#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
TMEM177	80775	broad.mit.edu	37	2	120439135	120439135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120439135G>A	ENST00000424086.1	+	2	1179	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	236						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCGCCGCACGGCCTCCCTCTC	0.617																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(706-708)Gcc>Acc		transmembrane protein 177							54.0	51.0	52.0					2																	120439135		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120439135G>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.706G>A	2.37:g.120439135G>A	ENSP00000402661:p.Ala236Thr					TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T	p.A236T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	1179	+	Colorectal(110;0.196)		236					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.706G>A	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414262	0.62511	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.51574	0.7;0.7;0.7	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75357	-0.3346	10	0.87932	D	0	-1.1583	15.7392	0.77876	0.0:0.0:1.0:0.0	.	236	Q53S58	TM177_HUMAN	T	236;236;236;203	ENSP00000385966:A236T;ENSP00000402661:A236T;ENSP00000272521:A236T	ENSP00000272521:A236T	A	+	1	0	TMEM177	120155605	1.000000	0.71417	0.482000	0.27366	0.050000	0.14768	9.037000	0.93765	2.402000	0.81655	0.549000	0.68633	GCC		0.617	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		38	335	0	0	0	1	0	38	335				
XPR1	9213	broad.mit.edu	37	1	180772672	180772672	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180772672A>C	ENST00000367590.4	+	4	570	c.372A>C	c.(370-372)caA>caC	p.Q124H	XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	124	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACGTGTCCAACATAGAAATA	0.438																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(370-372)caA>caC		xenotropic and polytropic retrovirus receptor 1							149.0	148.0	149.0					1																	180772672		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180772672A>C	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.372A>C	1.37:g.180772672A>C	ENSP00000356562:p.Gln124His					XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	p.Q124H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			4	570	+			124			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.372A>C	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813707	0.50527	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.45276	0.9	5.93	3.63	0.41609	SPX, N-terminal (2);	0.105520	0.64402	D	0.000004	T	0.24661	0.0598	N	0.17379	0.485	0.49213	D	0.999762	B;B	0.18310	0.027;0.009	B;B	0.19666	0.026;0.014	T	0.04400	-1.0954	10	0.33141	T	0.24	-10.9566	7.4345	0.27148	0.6443:0.0:0.3557:0.0	.	124;124	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	H	124	ENSP00000356562:Q124H	ENSP00000356561:Q124H	Q	+	3	2	XPR1	179039295	0.566000	0.26618	1.000000	0.80357	0.990000	0.78478	-0.162000	0.10012	0.510000	0.28216	0.482000	0.46254	CAA		0.438	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		178	548	0	0	0	1	0	178	548				
ADAM8	101	broad.mit.edu	37	10	135085191	135085191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135085191C>T	ENST00000445355.3	-	12	1175	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	ADAM8_ENST00000485491.2_Missense_Mutation_p.M336I|ADAM8_ENST00000415217.3_Missense_Mutation_p.M375I|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	375	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGTCACTGAACATCCTGGGGA	0.682																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1123-1125)atG>atA		ADAM metallopeptidase domain 8							15.0	18.0	17.0					10																	135085191		2126	4207	6333	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135085191C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1125G>A	10.37:g.135085191C>T	ENSP00000453302:p.Met375Ile					ADAM8_ENST00000485491.2_Missense_Mutation_p.M336I|ADAM8_ENST00000415217.3_Missense_Mutation_p.M375I	p.M375I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	12	1175	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	336					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.1125G>A	CCDS31319.2																																																																																				0.682	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		6	39	0	0	0	1	0	6	39				
EXTL3	2137	broad.mit.edu	37	8	28575113	28575113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575113C>T	ENST00000220562.4	+	3	2439	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	513					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCGGCAAGGCCGCTTTCTCTG	0.562																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1537-1539)Cgc>Tgc		exostosin-like glycosyltransferase 3							57.0	58.0	58.0					8																	28575113		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575113C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1537C>T	8.37:g.28575113C>T	ENSP00000220562:p.Arg513Cys					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C	p.R513C	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2439	+		Ovarian(32;0.069)	513					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1537C>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138105	0.77775	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.96300	-3.53;-3.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-23.0606	20.0522	0.97631	0.0:1.0:0.0:0.0	.	513	O43909	EXTL3_HUMAN	C	129;513	ENSP00000428691:R129C;ENSP00000220562:R513C	ENSP00000220562:R513C	R	+	1	0	EXTL3	28631032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.737000	0.93849	0.563000	0.77884	CGC		0.562	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		84	343	0	0	0	1	0	84	343				
EGFL6	25975	broad.mit.edu	37	X	13645136	13645136	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13645136G>T	ENST00000361306.1	+	11	1549	c.1292G>T	c.(1291-1293)gGc>gTc	p.G431V	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	431	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGCTATTGGCTTCTATATG	0.388																																						ENST00000361306.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(1291-1293)gGc>gTc		EGF-like-domain, multiple 6							76.0	84.0	81.0					X																	13645136		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13645136G>T	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1292G>T	X.37:g.13645136G>T	ENSP00000355126:p.Gly431Val					EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V|EGFL6_ENST00000473826.1_3'UTR	p.G431V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN			11	1549	+			431			MAM.		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.1292G>T	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636831	0.67130	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.32272	1.46;1.46	5.0	5.0	0.66597	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76900	-0.2788	10	0.87932	D	0	.	17.4988	0.87726	0.0:0.0:1.0:0.0	.	432;431	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	V	431;432	ENSP00000355126:G431V;ENSP00000369976:G432V	ENSP00000355126:G431V	G	+	2	0	EGFL6	13555057	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.750000	0.74888	2.059000	0.61396	0.600000	0.82982	GGC		0.388	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		107	451	1	0	3.01456e-30	1	3.53427e-30	107	451				
FLCN	201163	broad.mit.edu	37	17	17131402	17131402	+	Missense_Mutation	SNP	C	C	T	rs398124537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17131402C>T	ENST00000285071.4	-	4	504	c.50G>A	c.(49-51)cGc>cAc	p.R17H	FLCN_ENST00000389169.5_Missense_Mutation_p.R17H|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	17					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAAGAGAGTGCGGGGGCCGTG	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(49-51)cGc>cAc		folliculin							60.0	44.0	49.0					17																	17131402		2203	4300	6503	SO:0001583	missense	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17131402C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.50G>A	17.37:g.17131402C>T	ENSP00000285071:p.Arg17His					FLCN_ENST00000389169.5_Missense_Mutation_p.R17H|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H	p.R17H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			4	504	-			17					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.50G>A	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426711	0.62733	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.93547	-3.24;-3.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.977;0.996;0.899	D	0.95876	0.8895	10	0.66056	D	0.02	-12.8119	18.4682	0.90763	0.0:1.0:0.0:0.0	.	17;17;17	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	H	17	ENSP00000285071:R17H;ENSP00000373821:R17H	ENSP00000285071:R17H	R	-	2	0	FLCN	17072127	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.606000	0.88127	0.655000	0.94253	CGC		0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		46	193	0	0	0	1	0	46	193				
CNTN6	27255	broad.mit.edu	37	3	1424997	1424997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1424997G>T	ENST00000446702.2	+	19	3049	c.2422G>T	c.(2422-2424)Gga>Tga	p.G808*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*			Q9UQ52	CNTN6_HUMAN	contactin 6	808	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGCCCCAAGGGGAACTTCTCT	0.433																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2422-2424)Gga>Tga		contactin 6							192.0	200.0	197.0					3																	1424997		2203	4300	6503	SO:0001587	stop_gained	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424997G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2422G>T	3.37:g.1424997G>T	ENSP00000407822:p.Gly808*					CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*	p.G808*			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	3049	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	808			Fibronectin type-III 3.		Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	37	c.2422G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	42	9.272061	0.99120	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.58	3.8	0.43715	.	0.229512	0.30547	N	0.009391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.3055	0.54900	0.1271:0.0:0.8729:0.0	.	.	.	.	X	808;736;808	.	ENSP00000341882:G808X	G	+	1	0	CNTN6	1399997	0.996000	0.38824	0.339000	0.25562	0.227000	0.25037	2.570000	0.45981	0.751000	0.32900	-0.469000	0.05056	GGA		0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		202	956	1	0	9.68185e-62	1	1.21959e-61	202	956				
ZBED1	9189	broad.mit.edu	37	X	2408449	2408449	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2408449C>A	ENST00000381223.4	-	2	515	c.312G>T	c.(310-312)caG>caT	p.Q104H	ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	104					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCCCGGGCTGCTGGGACG	0.667																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(310-312)caG>caT		zinc finger, BED-type containing 1							79.0	77.0	78.0					X																	2408449		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408449C>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.312G>T	X.37:g.2408449C>A	ENSP00000370621:p.Gln104His					ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron	p.Q104H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	515	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	104					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.312G>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.158378	0.00321	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	1.71	0.24356	.	5.059470	0.01243	U	0.008673	T	0.27933	0.0688	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	8	0.27082	T	0.32	-6.024	3.0642	0.06209	0.0:0.4398:0.2263:0.3339	.	104	O96006	ZBED1_HUMAN	H	104	.	ENSP00000370616:Q104H	Q	-	3	2	ZBED1	2418449	0.372000	0.25064	0.003000	0.11579	0.112000	0.19704	0.935000	0.28924	0.150000	0.19136	0.425000	0.28330	CAG		0.667	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		44	396	1	0	8.20599e-20	1	9.16906e-20	44	396				
IL10RA	3587	broad.mit.edu	37	11	117860269	117860269	+	Missense_Mutation	SNP	C	C	T	rs368287711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117860269C>T	ENST00000227752.3	+	3	421	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W|IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	101			R -> W (in IBD28). {ECO:0000269|PubMed:23839161, ECO:0000269|PubMed:24785691}.		cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGCCAGAGTGCGGGCTGTGGA	0.577																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(301-303)Cgg>Tgg		interleukin 10 receptor, alpha							76.0	65.0	69.0					11																	117860269		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117860269C>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.301C>T	11.37:g.117860269C>T	ENSP00000227752:p.Arg101Trp					IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W|IL10RA_ENST00000545409.1_Intron	p.R101W	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	3	421	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	101					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.301C>T	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018503	0.75275	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.77489	-1.1;-1.1	4.95	3.98	0.46160	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.065623	0.64402	D	0.000007	D	0.86293	0.5898	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87381	0.2357	10	0.72032	D	0.01	-30.1496	12.4145	0.55486	0.1665:0.8335:0.0:0.0	.	81;101	F5GYV8;Q13651	.;I10R1_HUMAN	W	101;81;81	ENSP00000227752:R101W;ENSP00000441397:R81W	ENSP00000227752:R101W	R	+	1	2	IL10RA	117365479	0.998000	0.40836	0.997000	0.53966	0.013000	0.08279	0.814000	0.27239	2.461000	0.83175	0.563000	0.77884	CGG		0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			37	316	0	0	0	1	0	37	316				
ARHGAP32	9743	broad.mit.edu	37	11	128839523	128839523	+	Missense_Mutation	SNP	G	G	A	rs577826686		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839523G>A	ENST00000310343.9	-	22	5542	c.5543C>T	c.(5542-5544)aCg>aTg	p.T1848M	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1848	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCGGCTGCGTGCTACCATG	0.617																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5542-5544)aCg>aTg		Rho GTPase activating protein 32							60.0	55.0	57.0					11																	128839523		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839523G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5543C>T	11.37:g.128839523G>A	ENSP00000310561:p.Thr1848Met					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000524655.1_3'UTR	p.T1848M	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5542	-			1848			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5543C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116592	0.06838	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.08720	3.06;3.06;3.06	6.07	-0.14	0.13456	.	0.721795	0.13291	N	0.399017	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.26310	0.068	T	0.40757	-0.9546	10	0.49607	T	0.09	.	2.2666	0.04080	0.2839:0.4168:0.1589:0.1404	.	1848	A7KAX9	RHG32_HUMAN	M	1848;1499;1499	ENSP00000310561:T1848M;ENSP00000376425:T1499M;ENSP00000432862:T1499M	ENSP00000310561:T1848M	T	-	2	0	ARHGAP32	128344733	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.729000	0.26028	-0.262000	0.09392	0.655000	0.94253	ACG		0.617	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		62	274	0	0	0	1	0	62	274				
CD52	1043	broad.mit.edu	37	1	26646758	26646758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26646758G>A	ENST00000374213.2	+	2	212	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	UBXN11_ENST00000374222.1_5'Flank|UBXN11_ENST00000374217.2_5'Flank	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	51					positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				large_intestine(1)	1		all_cancers(24;5.02e-24)|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;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	TTTCTTCGTGGCCAATGCCAT	0.522																																						ENST00000374213.2																			0				large_intestine(1)	1						c.(151-153)Gcc>Acc		CD52 molecule	Alemtuzumab(DB00087)						193.0	170.0	178.0					1																	26646758		2203	4300	6503	SO:0001583	missense	1043				elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction		g.chr1:26646758G>A		CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"""CD molecules"""	1804	protein-coding gene	gene with protein product		114280	"""CD52 antigen (CAMPATH-1 antigen)"""	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.151G>A	1.37:g.26646758G>A	ENSP00000363330:p.Ala51Thr						p.A51T	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	2	212	+		all_cancers(24;5.02e-24)|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)	51					Q5T138|Q9BW46	Missense_Mutation	SNP	ENST00000374213.2	37	c.151G>A	CCDS30647.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224247	0.39300	.	.	ENSG00000169442	ENST00000374213	T	0.48836	0.8	4.33	-5.08	0.02929	.	1.803160	0.03567	N	0.227998	T	0.31606	0.0802	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.18871	0.023	T	0.27226	-1.0080	9	0.14656	T	0.56	.	14.6165	0.68552	0.2534:0.0:0.7466:0.0	.	51	P31358	CD52_HUMAN	T	51	ENSP00000363330:A51T	ENSP00000363330:A51T	A	+	1	0	CD52	26519345	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.612000	0.05616	-1.066000	0.03164	-0.302000	0.09304	GCC		0.522	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	NM_001803		9	341	0	0	0	1	0	9	341				
SLC6A17	388662	broad.mit.edu	37	1	110741029	110741029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110741029G>A	ENST00000331565.4	+	12	2632	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	716					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TATGGGAGCGGCTACCTGCTG	0.672																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2146-2148)gGc>gAc		solute carrier family 6 (neutral amino acid transporter), member 17							63.0	64.0	64.0					1																	110741029		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110741029G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2147G>A	1.37:g.110741029G>A	ENSP00000330199:p.Gly716Asp						p.G716D	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	12	2632	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	716					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.2147G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511293	0.85389	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75154	-0.91	4.51	4.51	0.55191	.	0.385030	0.26156	N	0.026015	T	0.78704	0.4325	L	0.52573	1.65	0.58432	D	0.999996	D	0.71674	0.998	D	0.65443	0.935	T	0.82145	-0.0602	10	0.87932	D	0	.	17.1979	0.86898	0.0:0.0:1.0:0.0	.	716	Q9H1V8	S6A17_HUMAN	D	716	ENSP00000330199:G716D	ENSP00000330199:G716D	G	+	2	0	SLC6A17	110542552	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.098000	0.94202	2.053000	0.61076	0.313000	0.20887	GGC		0.672	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		61	482	0	0	0	1	0	61	482				
STAG1	10274	broad.mit.edu	37	3	136087969	136087969	+	Silent	SNP	G	G	A	rs199613871		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136087969G>A	ENST00000383202.2	-	24	2782	c.2526C>T	c.(2524-2526)gaC>gaT	p.D842D	STAG1_ENST00000536929.1_Silent_p.D426D|STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000434713.2_Silent_p.D616D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	842					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTTCTCCTCGTCTTGGTCAA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16021	0.0		0.001	False		,,,				2504	0.0					ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2524-2526)gaC>gaT		stromal antigen 1		G		0,4406		0,0,2203	72.0	69.0	70.0		2526	0.4	1.0	3		70	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	STAG1	NM_005862.2		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		842/1259	136087969	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136087969G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2526C>T	3.37:g.136087969G>A						STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000536929.1_Silent_p.D426D|STAG1_ENST00000434713.2_Silent_p.D616D	p.D842D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			24	2782	-			842					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.2526C>T	CCDS3090.1																																																																																				0.413	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		20	213	0	0	0	1	0	20	213				
RORB	6096	broad.mit.edu	37	9	77245232	77245232	+	Silent	SNP	C	C	T	rs375934653		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77245232C>T	ENST00000396204.2	+	2	75	c.75C>T	c.(73-75)ggC>ggT	p.G25G	RORB_ENST00000376896.3_Silent_p.G14G			Q92753	RORB_HUMAN	RAR-related orphan receptor B	25					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AAATTTGTGGCGATAAGTCCT	0.428																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(40-42)ggC>ggT		RAR-related orphan receptor B							161.0	131.0	141.0					9																	77245232		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77245232C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.75C>T	9.37:g.77245232C>T						RORB_ENST00000396204.2_Silent_p.G25G	p.G14G	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			2	654	+			25					Q8WX73	Silent	SNP	ENST00000396204.2	37	c.42C>T																																																																																					0.428	RORB-201	KNOWN	basic	protein_coding	protein_coding				47	244	0	0	0	1	0	47	244				
ONECUT2	9480	broad.mit.edu	37	18	55103370	55103370	+	Missense_Mutation	SNP	G	G	T	rs375937685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55103370G>T	ENST00000491143.2	+	1	454	c.422G>T	c.(421-423)gGc>gTc	p.G141V	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	141					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCTCCGCCTGGCATGGGCATG	0.657																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(421-423)gGc>gTc		one cut homeobox 2		G	VAL/GLY	0,4406		0,0,2203	47.0	52.0	50.0		422	2.3	1.0	18		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	ONECUT2	NM_004852.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	141/505	55103370	1,13005	2203	4300	6503	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103370G>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.422G>T	18.37:g.55103370G>T	ENSP00000419185:p.Gly141Val						p.G141V	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	454	+		Colorectal(73;0.234)	141						Missense_Mutation	SNP	ENST00000491143.2	37	c.422G>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265483	0.59431	0.0	1.16E-4	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.34	2.34	0.29019	.	0.000000	0.48286	U	0.000194	T	0.75568	0.3867	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78107	-0.2333	9	0.72032	D	0.01	.	11.3876	0.49796	0.0:0.0:1.0:0.0	.	141	O95948	ONEC2_HUMAN	V	122;141	.	ENSP00000262095:G141V	G	+	2	0	ONECUT2	53254368	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	8.680000	0.91225	1.133000	0.42147	0.305000	0.20034	GGC		0.657	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			26	145	1	0	2.44723e-14	1	2.65813e-14	26	145				
NR4A1	3164	broad.mit.edu	37	12	52449883	52449883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52449883C>T	ENST00000243050.1	+	4	1260	c.946C>T	c.(946-948)Cga>Tga	p.R316*	NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*|NR4A1_ENST00000545748.1_Nonsense_Mutation_p.R370*|NR4A1_ENST00000550082.1_Nonsense_Mutation_p.R329*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAAGAGGCGGCGAAACCGCTG	0.632																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1108-1110)Cga>Tga		nuclear receptor subfamily 4, group A, member 1							85.0	80.0	82.0					12																	52449883		2203	4300	6503	SO:0001587	stop_gained	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52449883C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.946C>T	12.37:g.52449883C>T	ENSP00000243050:p.Arg316*					NR4A1_ENST00000550082.1_Nonsense_Mutation_p.R329*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*|NR4A1_ENST00000243050.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*	p.R370*			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	4	2103	+			316	R -> L (in Ref. 2; AAA36763).				B4DML7|Q15627|Q53Y00|Q6IBU8	Nonsense_Mutation	SNP	ENST00000243050.1	37	c.1108C>T	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	38	7.216842	0.98143	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	.	.	.	4.27	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4197	0.49974	0.3237:0.6763:0.0:0.0	.	.	.	.	X	329;370;329;316;316;316	.	ENSP00000243050:R316X	R	+	1	2	NR4A1	50736150	0.472000	0.25870	1.000000	0.80357	0.994000	0.84299	-0.028000	0.12350	1.340000	0.45581	0.561000	0.74099	CGA		0.632	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			21	524	0	0	0	1	0	21	524				
KBTBD12	166348	broad.mit.edu	37	3	127646814	127646814	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127646814G>A	ENST00000405109.1	+	3	1745	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Silent_p.L33L|KBTBD12_ENST00000405256.1_Silent_p.L426L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	426										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CACTGCAATTGGCATGTCATG	0.383																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1276-1278)ttG>ttA		kelch repeat and BTB (POZ) domain containing 12							70.0	77.0	75.0					3																	127646814		2195	4293	6488	SO:0001819	synonymous_variant	166348							g.chr3:127646814G>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1278G>A	3.37:g.127646814G>A						KBTBD12_ENST00000405256.1_Silent_p.L426L|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Silent_p.L33L	p.L426L			Q3ZCT8	KBTBC_HUMAN			3	1745	+			426					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.1278G>A	CCDS33848.2																																																																																				0.383	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		60	235	0	0	0	1	0	60	235				
JOSD2	126119	broad.mit.edu	37	19	51010878	51010878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51010878G>A	ENST00000598418.1	-	3	478	c.225C>T	c.(223-225)gcC>gcT	p.A75A	JOSD2_ENST00000391815.3_Silent_p.A75A|JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Silent_p.A75A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	75	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CCTGCAGAGCGGCCATGATCA	0.667																																						ENST00000598418.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(223-225)gcC>gcT		Josephin domain containing 2							82.0	89.0	87.0					19																	51010878		2203	4300	6503	SO:0001819	synonymous_variant	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51010878G>A	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.225C>T	19.37:g.51010878G>A						JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Silent_p.A75A|JOSD2_ENST00000391815.3_Silent_p.A75A	p.A75A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	3	478	-		all_neural(266;0.131)	75			Josephin.		M0QX25	Silent	SNP	ENST00000598418.1	37	c.225C>T	CCDS12797.1																																																																																				0.667	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		135	703	0	0	0	1	0	135	703				
RNF39	80352	broad.mit.edu	37	6	30041026	30041026	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30041026C>A	ENST00000244360.6	-	3	688		c.e3-1		RNF39_ENST00000376751.3_Splice_Site	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39							cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GACTTCAAATCTACACAGATG	0.458																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.e3-1		ring finger protein 39							113.0	111.0	112.0					6																	30041026		1511	2709	4220	SO:0001630	splice_region_variant	80352					cytoplasm	zinc ion binding	g.chr6:30041026C>A	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.591-1G>T	6.37:g.30041026C>A						RNF39_ENST00000376751.3_Splice_Site		NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			3	688	-								A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Splice_Site	SNP	ENST00000244360.6	37		CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	8.023	0.760024	0.15846	.	.	ENSG00000204618	ENST00000376751;ENST00000244360	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8043	0.52145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF39	30149005	1.000000	0.71417	0.995000	0.50966	0.116000	0.19942	3.515000	0.53429	2.242000	0.73789	0.466000	0.42574	.		0.458	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769	Intron	91	379	1	0	1.61229e-46	1	1.9812e-46	91	379				
TRPV2	51393	broad.mit.edu	37	17	16330045	16330045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330045C>T	ENST00000338560.7	+	7	1504	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	369	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCACCGACACCGAATGGTCGT	0.517																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1105-1107)Cga>Tga		transient receptor potential cation channel, subfamily V, member 2							78.0	67.0	70.0					17																	16330045		2203	4300	6503	SO:0001587	stop_gained	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16330045C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1105C>T	17.37:g.16330045C>T	ENSP00000342222:p.Arg369*					TRPV2_ENST00000577397.1_Intron	p.R369*	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	7	1504	+			369			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	ENST00000338560.7	37	c.1105C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	42	9.196707	0.99098	.	.	ENSG00000187688	ENST00000338560	.	.	.	5.29	3.17	0.36434	.	0.277108	0.40144	N	0.001171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-42.5873	11.3436	0.49548	0.5677:0.4323:0.0:0.0	.	.	.	.	X	369	.	ENSP00000342222:R369X	R	+	1	2	TRPV2	16270770	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.131000	0.31406	1.251000	0.43983	-0.225000	0.12378	CGA		0.517	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		10	302	0	0	0	1	0	10	302				
SRGAP2	23380	broad.mit.edu	37	1	206632020	206632020	+	Silent	SNP	C	C	T	rs533088717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206632020C>T	ENST00000414007.1	+	18	2139	c.2139C>T	c.(2137-2139)gaC>gaT	p.D713D	SRGAP2_ENST00000419187.2_Silent_p.D171D			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	853					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TTCGGAGTGACAGCCATGGGC	0.597																																						ENST00000419187.2																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(511-513)gaC>gaT		SLIT-ROBO Rho GTPase activating protein 2							27.0	29.0	28.0					1																	206632020		1980	4165	6145	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206632020C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2139C>T	1.37:g.206632020C>T						SRGAP2_ENST00000414007.1_Silent_p.D713D	p.171_171insD			O75044	FNBP2_HUMAN			19	2176	+	Breast(84;0.137)		0						Missense_Mutation	SNP	ENST00000414007.1	37	c.513C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.12|10.12	1.264395|1.264395	0.23136|0.23136	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000426388	.|.	.|.	.|.	6.06|6.06	0.66|0.66	0.17868|0.17868	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31451	.|0.0797	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35798	.|-0.9774	.|3	.|.	.|.	.|.	.|.	4.5869|4.5869	0.12287|0.12287	0.1155:0.5353:0.2235:0.1256|0.1155:0.5353:0.2235:0.1256	.|.	.|.	.|.	.|.	X|I	767|149	.|.	.|.	Q|T	+|+	1|2	0|0	SRGAP2|SRGAP2	204698643|204698643	0.988000|0.988000	0.35896|0.35896	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	0.577000|0.577000	0.23758|0.23758	0.130000|0.130000	0.18549|0.18549	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.597	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		17	73	0	0	0	1	0	17	73				
C5	727	broad.mit.edu	37	9	123753544	123753544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123753544G>A	ENST00000223642.1	-	23	2895	c.2866C>T	c.(2866-2868)Cga>Tga	p.R956*		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	956					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AACTCCTTTCGTCTGCTAATG	0.333																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(2866-2868)Cga>Tga		complement component 5	Eculizumab(DB01257)						121.0	122.0	122.0					9																	123753544		2203	4300	6503	SO:0001587	stop_gained	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123753544G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.2866C>T	9.37:g.123753544G>A	ENSP00000223642:p.Arg956*						p.R956*	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	23	2895	-			956					Q14CJ0|Q27I61	Nonsense_Mutation	SNP	ENST00000223642.1	37	c.2866C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	40	8.235985	0.98719	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	.	.	.	5.7	2.66	0.31614	.	3.841640	0.00748	N	0.001054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6768	0.56899	0.0:0.0:0.5713:0.4287	.	.	.	.	X	956;1027	.	ENSP00000223642:R956X	R	-	1	2	C5	122793365	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	1.609000	0.36858	0.705000	0.31890	0.655000	0.94253	CGA		0.333	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		20	485	0	0	0	1	0	20	485				
GLDN	342035	broad.mit.edu	37	15	51693790	51693790	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51693790G>T	ENST00000335449.6	+	9	1084	c.1028G>T	c.(1027-1029)gGc>gTc	p.G343V	GLDN_ENST00000396399.2_Splice_Site_p.G219V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	343	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCTCCTACAGGCATCATGGTT	0.507											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.e9-1		gliomedin							198.0	162.0	174.0					15																	51693790		2196	4293	6489	SO:0001630	splice_region_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51693790G>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1028-1G>T	15.37:g.51693790G>T			OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	979	GLDN_ENST00000396399.2_Splice_Site_p.G219_splice	p.G343_splice	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	9	1084	+			343			Olfactomedin-like.		Q6UXZ7|Q7Z359	Splice_Site	SNP	ENST00000335449.6	37	c.1027_splice	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803327	0.90623	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.92647	-3.08;-3.08	5.71	5.71	0.89125	Olfactomedin-like (3);	0.000000	0.44285	D	0.000476	D	0.96244	0.8775	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95788	0.8822	9	.	.	.	.	18.8497	0.92222	0.0:0.0:1.0:0.0	.	343	Q6ZMI3	GLDN_HUMAN	V	343;219;219	ENSP00000335196:G343V;ENSP00000379681:G219V	.	G	+	2	0	GLDN	49481082	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.384000	0.90160	2.692000	0.91855	0.655000	0.94253	GGC		0.507	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789	Missense_Mutation	42	438	1	0	1.30475e-32	1	1.54167e-32	42	438				
SEMA4G	57715	broad.mit.edu	37	10	102743421	102743421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743421C>A	ENST00000370250.4	+	14	2423	c.2050C>A	c.(2050-2052)Ctt>Att	p.L684I	MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.L689I|MRPL43_ENST00000299179.5_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	684					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CATTGCCGCGCTTGGTGGCCT	0.652																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2065-2067)Ctt>Att		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							60.0	56.0	57.0					10																	102743421		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743421C>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2050C>A	10.37:g.102743421C>A	ENSP00000359270:p.Leu684Ile					RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.L684I|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron	p.L689I			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2143	+		Colorectal(252;0.234)	684					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.2065C>A		.	.	.	.	.	.	.	.	.	.	c	16.98	3.272109	0.59649	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.24538	1.85;1.93	5.53	3.64	0.41730	.	1.042350	0.07500	N	0.907053	T	0.39036	0.1063	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.69654	0.965	T	0.06303	-1.0834	10	0.37606	T	0.19	.	11.3735	0.49713	0.0:0.8284:0.0:0.1716	.	689	Q9NTN9-2	.	I	684;689	ENSP00000359270:L684I;ENSP00000210633:L689I	ENSP00000210633:L689I	L	+	1	0	SEMA4G	102733411	0.601000	0.26907	0.942000	0.38095	0.932000	0.56968	1.208000	0.32345	2.613000	0.88420	0.550000	0.68814	CTT		0.652	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			18	114	1	0	1.56452e-12	1	1.68123e-12	18	114				
ASB15	142685	broad.mit.edu	37	7	123269160	123269160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269160C>A	ENST00000451558.1	+	12	1633	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	ASB15_ENST00000451215.1_Missense_Mutation_p.A371D|ASB15_ENST00000275699.3_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D|ASB15_ENST00000540573.1_Missense_Mutation_p.A371D			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	371					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTCCTTCTGGCTGCAGGTGCA	0.473																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1111-1113)gCt>gAt		ankyrin repeat and SOCS box containing 15							124.0	109.0	114.0					7																	123269160		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269160C>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1112C>A	7.37:g.123269160C>A	ENSP00000397655:p.Ala371Asp					ASB15_ENST00000451215.1_Missense_Mutation_p.A371D|ASB15_ENST00000275699.3_Missense_Mutation_p.A371D|ASB15_ENST00000540573.1_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D	p.A371D			Q8WXK1	ASB15_HUMAN			12	1633	+			371					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1112C>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788999	0.31685	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	6.06	4.12	0.48240	Ankyrin repeat-containing domain (4);	0.652169	0.14645	N	0.306969	T	0.40196	0.1107	N	0.02697	-0.525	0.25479	N	0.98776	B	0.26318	0.146	B	0.29176	0.099	T	0.38067	-0.9678	10	0.44086	T	0.13	-12.5825	13.2069	0.59803	0.5448:0.4552:0.0:0.0	.	371	Q8WXK1	ASB15_HUMAN	D	371;371;371;371;160;371	ENSP00000397655:A371D;ENSP00000390963:A371D;ENSP00000416433:A371D;ENSP00000438643:A371D;ENSP00000275699:A371D	ENSP00000275699:A371D	A	+	2	0	ASB15	123056396	0.829000	0.29322	1.000000	0.80357	0.971000	0.66376	0.324000	0.19610	1.496000	0.48567	0.655000	0.94253	GCT		0.473	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			14	366	1	0	9.31168e-06	1	9.55451e-06	14	366				
KIAA0100	9703	broad.mit.edu	37	17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	RP11-192H23.4_ENST00000577790.1_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2234						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCATTTGCGCCTGCCAAA	0.562																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6700-6702)cGc>cAc		KIAA0100							244.0	240.0	242.0					17																	26942089		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26942089C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6701G>A	17.37:g.26942089C>T	ENSP00000436773:p.Arg2234His					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H	p.R2234H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			39	6775	-	Lung NSC(42;0.00431)		2234					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6701G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623061	0.66901	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27720	1.65;1.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42241	-0.9463	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	2234	Q14667	K0100_HUMAN	H	2234;2204;2234;2091	ENSP00000436773:R2234H;ENSP00000446443:R2091H	ENSP00000005905:R2234H	R	-	2	0	KIAA0100	23966216	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.627000	0.67784	2.826000	0.97356	0.561000	0.74099	CGC		0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		281	1379	0	0	0	1	0	281	1379				
ZNF141	7700	broad.mit.edu	37	4	367647	367647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367647C>A	ENST00000240499.7	+	4	1570	c.1421C>A	c.(1420-1422)aCt>aAt	p.T474N	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	474			T -> I (in PAPA6). {ECO:0000269|PubMed:23160277}.		anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAAATTCATACTTGAGAGAAA	0.328																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1420-1422)aCt>aAt		zinc finger protein 141							48.0	54.0	52.0					4																	367647		2190	4287	6477	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367647C>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1421C>A	4.37:g.367647C>A	ENSP00000240499:p.Thr474Asn					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.T474N	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1570	+			474					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1421C>A	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004459	0.35320	.	.	ENSG00000131127	ENST00000240499	T	0.07444	3.19	1.24	-0.242	0.13039	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18425	0.0442	L	0.54863	1.705	0.23594	N	0.997339	D	0.76494	0.999	D	0.81914	0.995	T	0.11842	-1.0571	8	.	.	.	.	6.5311	0.22328	0.0:0.6973:0.3027:0.0	.	474	Q15928	ZN141_HUMAN	N	474	ENSP00000240499:T474N	.	T	+	2	0	ZNF141	357647	0.021000	0.18746	0.018000	0.16275	0.226000	0.24999	0.903000	0.28475	0.591000	0.29711	0.313000	0.20887	ACT		0.328	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		72	303	1	0	2.40655e-23	1	2.73437e-23	72	303				
TRAPPC11	60684	broad.mit.edu	37	4	184614276	184614276	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184614276G>T	ENST00000334690.6	+	20	2415	c.2213G>T	c.(2212-2214)aGc>aTc	p.S738I	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S738I|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S344I	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	738				Missing (in Ref. 3; BAB14556). {ECO:0000305}.	vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CACTGGGACAGCATTATAATT	0.438																																						ENST00000334690.6																			0											c.(2212-2214)aGc>aTc		trafficking protein particle complex 11							75.0	71.0	72.0					4																	184614276		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184614276G>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2213G>T	4.37:g.184614276G>T	ENSP00000335371:p.Ser738Ile					TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S344I|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S738I	p.S738I	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			20	2415	+			738	Missing (in Ref. 3; BAB14556).				A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.2213G>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479215	0.44044	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.1	4.26	0.50523	.	0.313099	0.38897	N	0.001521	T	0.40956	0.1138	N	0.24115	0.695	0.47547	D	0.999452	B;P;P;P	0.45634	0.427;0.782;0.863;0.662	B;P;B;B	0.44623	0.399;0.455;0.444;0.316	T	0.22871	-1.0204	9	0.36615	T	0.2	.	10.423	0.44361	0.074:0.1348:0.7912:0.0	.	469;344;738;738	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	I	738;738;738;344	.	ENSP00000335371:S738I	S	+	2	0	C4orf41	184851270	1.000000	0.71417	0.993000	0.49108	0.800000	0.45204	3.779000	0.55379	1.376000	0.46267	0.650000	0.86243	AGC		0.438	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		42	145	1	0	4.67007e-22	1	5.27622e-22	42	145				
TSC2	7249	broad.mit.edu	37	16	2096182	2096182	+	5'Flank	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2096182G>T	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Missense_Mutation_p.P109T|TSC2_ENST00000382538.6_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000353929.4_5'Flank|TSC2_ENST00000439673.2_5'Flank|TSC2_ENST00000401874.2_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000350773.4_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGTCCACAGGTGCATCCTTT	0.612			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219066.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"""E, O"""					0				lung(1)	1						c.(325-327)Cct>Act	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							141.0	120.0	127.0					16																	2096182		2198	4300	6498	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2096182G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096182G>T	Exception_encountered						p.P109T	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			2	343	-			109					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.325C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171863	0.38315	.	.	ENSG00000065057	ENST00000219066	D	0.92545	-3.06	4.83	4.83	0.62350	DNA glycosylase (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	H	0.95365	3.66	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	D	0.98474	1.0602	10	0.72032	D	0.01	-8.9083	16.4958	0.84242	0.0:0.0:1.0:0.0	.	109;109	E5KTI5;P78549	.;NTHL1_HUMAN	T	109	ENSP00000219066:P109T	ENSP00000219066:P109T	P	-	1	0	NTHL1	2036183	1.000000	0.71417	0.916000	0.36221	0.266000	0.26442	8.801000	0.91905	2.230000	0.72887	0.561000	0.74099	CCT		0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		10	694	1	0	0.000442599	1	0.000448314	10	694				
EIF4B	1975	broad.mit.edu	37	12	53421850	53421850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421850G>A	ENST00000262056.9	+	8	1183	c.857G>A	c.(856-858)cGc>cAc	p.R286H	EIF4B_ENST00000420463.3_Missense_Mutation_p.R286H|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	286	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTGGGTATCGCAGGGATGAT	0.498																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(856-858)cGc>cAc		eukaryotic translation initiation factor 4B							79.0	84.0	82.0					12																	53421850		1905	4129	6034	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421850G>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.857G>A	12.37:g.53421850G>A	ENSP00000262056:p.Arg286His					EIF4B_ENST00000420463.3_Missense_Mutation_p.R286H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H	p.R286H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			8	1183	+			286			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.857G>A	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942603	0.73672	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.54675	0.56;0.56;0.61;0.69	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.74647	2.275	0.54753	D	0.999982	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.98;0.98;0.98	T	0.75393	-0.3333	10	0.56958	D	0.05	.	16.088	0.81070	0.0:0.0:1.0:0.0	.	247;286;262;286	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	286;286;262;247;241;240	ENSP00000262056:R286H;ENSP00000388806:R286H;ENSP00000449746:R241H;ENSP00000450324:R240H	ENSP00000262056:R286H	R	+	2	0	EIF4B	51708117	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	9.089000	0.94137	2.292000	0.77174	0.655000	0.94253	CGC		0.498	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		19	446	0	0	0	1	0	19	446				
C3orf79	152118	broad.mit.edu	37	3	153220229	153220229	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153220229C>A	ENST00000446603.2	+	3	323	c.261C>A	c.(259-261)ggC>ggA	p.G87G	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	87										endometrium(1)|large_intestine(3)	4						TACAGAGAGGCTCCTTTGCAA	0.428																																						ENST00000446603.2																			0				endometrium(1)|large_intestine(3)	4						c.(259-261)ggC>ggA		chromosome 3 open reading frame 79							108.0	105.0	106.0					3																	153220229		1857	4100	5957	SO:0001819	synonymous_variant	152118							g.chr3:153220229C>A	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.261C>A	3.37:g.153220229C>A						RP11-23D24.2_ENST00000493214.2_RNA	p.G87G	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN			3	323	+			87						Silent	SNP	ENST00000446603.2	37	c.261C>A	CCDS46937.1																																																																																				0.428	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337		63	316	1	0	4.29146e-36	1	5.13238e-36	63	316				
ARRB2	409	broad.mit.edu	37	17	4621244	4621244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4621244C>T	ENST00000269260.2	+	8	780	c.547C>T	c.(547-549)Cct>Tct	p.P183S	ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	183					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CGGCCCCCAGCCTTCAGCCGA	0.627																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(547-549)Cct>Tct		arrestin, beta 2							43.0	42.0	42.0					17																	4621244		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4621244C>T		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.547C>T	17.37:g.4621244C>T	ENSP00000269260:p.Pro183Ser					ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000574954.1_5'UTR	p.P183S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			8	780	+			183					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.547C>T	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925126	0.92319	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.20463	2.11;2.07	4.77	4.77	0.60923	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.052944	0.85682	D	0.000000	T	0.45397	0.1340	M	0.76938	2.355	0.80722	D	1	D;D;D;D;D	0.76494	0.987;0.985;0.999;0.998;0.974	P;P;D;P;P	0.63381	0.696;0.75;0.914;0.846;0.641	T	0.48714	-0.9011	10	0.72032	D	0.01	-9.2716	15.3396	0.74284	0.0:1.0:0.0:0.0	.	204;168;183;168;183	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	S	183;183;168;184	ENSP00000269260:P183S;ENSP00000341895:P168S	ENSP00000269260:P183S	P	+	1	0	ARRB2	4567993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.479000	0.83701	0.655000	0.94253	CCT		0.627	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		23	155	0	0	0	1	0	23	155				
COL18A1	80781	broad.mit.edu	37	21	46908341	46908341	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46908341G>A	ENST00000359759.4	+	17	3172	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S|COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1051	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGACCTCCCGGCCTGCCGGG	0.597																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3151-3153)Ggc>Agc		collagen, type XVIII, alpha 1							90.0	101.0	97.0					21																	46908341		1997	4142	6139	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46908341G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3151G>A	21.37:g.46908341G>A	ENSP00000352798:p.Gly1051Ser					COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S|COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S	p.G1051S			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	17	3172	+			1051			Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3151G>A		.	.	.	.	.	.	.	.	.	.	G	16.68	3.190930	0.58017	.	.	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.99329	-5.75;-5.75;-5.75	3.39	2.48	0.30137	.	0.132732	0.49916	D	0.000132	D	0.99513	0.9826	H	0.98256	4.185	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.67725	0.953;0.921;0.796	D	0.97195	0.9860	10	0.87932	D	0	.	7.9781	0.30166	0.0:0.0:0.7558:0.2442	.	1051;816;636	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	S	636;816;1051;1051	ENSP00000383191:G636S;ENSP00000347665:G816S;ENSP00000352798:G1051S	ENSP00000347665:G816S	G	+	1	0	COL18A1	45732769	0.903000	0.30736	0.009000	0.14445	0.097000	0.18754	3.660000	0.54496	0.763000	0.33175	0.650000	0.86243	GGC		0.597	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			46	455	0	0	0	1	0	46	455				
DSG1	1828	broad.mit.edu	37	18	28934818	28934818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28934818C>T	ENST00000257192.4	+	15	2871	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	887					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCCTGACTTGCGAGATGGGTC	0.478																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2659-2661)Cga>Tga		desmoglein 1							165.0	156.0	159.0					18																	28934818		2203	4300	6503	SO:0001587	stop_gained	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934818C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2659C>T	18.37:g.28934818C>T	ENSP00000257192:p.Arg887*					DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	p.R887*	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2871	+			887					B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	37	c.2659C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	38	6.653377	0.97739	.	.	ENSG00000134760	ENST00000257192	.	.	.	6.02	4.87	0.63330	.	0.236364	0.38217	N	0.001767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5659	0.33538	0.5489:0.3835:0.0675:0.0	.	.	.	.	X	887	.	ENSP00000257192:R887X	R	+	1	2	DSG1	27188816	0.998000	0.40836	0.999000	0.59377	0.854000	0.48673	2.019000	0.41001	1.113000	0.41760	-0.262000	0.10625	CGA		0.478	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		123	553	0	0	0	1	0	123	553				
RNF220	55182	broad.mit.edu	37	1	45079892	45079892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45079892C>A	ENST00000355387.2	+	3	1131	c.681C>A	c.(679-681)tgC>tgA	p.C227*	RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000443020.2_5'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	227					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCCCATCTGCCAGGTCCTGC	0.592																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(679-681)tgC>tgA		ring finger protein 220							94.0	90.0	91.0					1																	45079892		2203	4300	6503	SO:0001587	stop_gained	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45079892C>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.681C>A	1.37:g.45079892C>A	ENSP00000347548:p.Cys227*					RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000443020.2_5'UTR	p.C227*			Q5VTB9	RN220_HUMAN			3	1131	+			227					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Nonsense_Mutation	SNP	ENST00000355387.2	37	c.681C>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	36	5.960329	0.97145	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.14	1.22	0.21188	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1671	0.20396	0.1204:0.6103:0.0:0.2693	.	.	.	.	X	227	.	ENSP00000347548:C227X	C	+	3	2	RNF220	44852479	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.174000	0.42482	0.072000	0.16694	-0.145000	0.13849	TGC		0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		54	493	1	0	5.22555e-25	1	5.98653e-25	54	493				
CCDC163P	126661	broad.mit.edu	37	1	45960780	45960780	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45960780C>A	ENST00000432082.1	-	5	753	c.389G>T	c.(388-390)aGa>aTa	p.R130I	CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_3'UTR					coiled-coil domain containing 163, pseudogene											cervix(1)|endometrium(1)	2						GCTTAAGACTCTGGGCATGGA	0.478																																						ENST00000432082.1																			0				cervix(1)|endometrium(1)	2						c.(388-390)aGa>aTa									121.0	114.0	116.0					1																	45960780		1878	4096	5974	SO:0001583	missense	0							g.chr1:45960780C>A	BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624			27003	pseudogene	pseudogene			"""chromosome 1 open reading frame 231"""	C1orf231		18672041	Standard	NR_033296		Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000432082.1:c.389G>T	1.37:g.45960780C>A	ENSP00000435596:p.Arg130Ile					CCDC163P_ENST00000490551.3_3'UTR|CCDC163P_ENST00000502793.2_5'UTR	p.R130I							5	753	-									Missense_Mutation	SNP	ENST00000432082.1	37	c.389G>T		.	.	.	.	.	.	.	.	.	.	C	12.63	1.994796	0.35226	.	.	ENSG00000236624	ENST00000432082	.	.	.	4.43	2.54	0.30619	.	.	.	.	.	T	0.29158	0.0725	.	.	.	0.09310	N	0.999999	B	0.26809	0.16	B	0.21917	0.037	T	0.25257	-1.0137	7	0.87932	D	0	.	5.5075	0.16862	0.1967:0.7027:0.0:0.1006	.	130	F2Z3K3	.	I	130	.	ENSP00000435596:R130I	R	-	2	0	CCDC163P	45733367	0.191000	0.23288	0.004000	0.12327	0.350000	0.29205	0.472000	0.22116	0.796000	0.33947	0.609000	0.83330	AGA		0.478	CCDC163P-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000349850.4	NM_001102601		32	294	1	0	1.04594e-18	1	1.16214e-18	32	294				
SUN2	25777	broad.mit.edu	37	22	39141701	39141701	+	Silent	SNP	C	C	T	rs374425217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141701C>T	ENST00000405510.1	-	9	1159	c.801G>A	c.(799-801)tcG>tcA	p.S267S	RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000405018.1_Silent_p.S288S|SUN2_ENST00000406622.1_Silent_p.S267S|SUN2_ENST00000411587.2_Silent_p.S256S|SUN2_ENST00000216064.4_Silent_p.S267S|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	267					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGAAATGTGGCGATGAGTCTC	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19314	0.0		0.001	False		,,,				2504	0.0					ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(799-801)tcG>tcA		Sad1 and UNC84 domain containing 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	75.0	69.0	71.0		864,801,801	-0.2	0.0	22		71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SUN2	NM_001199579.1,NM_001199580.1,NM_015374.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	288/739,267/718,267/718	39141701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39141701C>T	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.801G>A	22.37:g.39141701C>T						RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Silent_p.S256S|SUN2_ENST00000216064.4_Silent_p.S267S|SUN2_ENST00000406622.1_Silent_p.S267S|SUN2_ENST00000405018.1_Silent_p.S288S	p.S267S	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			9	1159	-			267					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	37	c.801G>A	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.492060	0.01009	2.27E-4	0.0	ENSG00000100242	ENST00000430185	.	.	.	4.76	-0.16	0.13375	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	-6.1881	7.6254	0.28210	0.0:0.2975:0.402:0.3005	.	.	.	.	H	124	.	.	R	-	2	0	SUN2	37471647	0.273000	0.24181	0.002000	0.10522	0.005000	0.04900	0.829000	0.27449	0.100000	0.17581	-1.602000	0.00811	CGC		0.582	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		8	250	0	0	0	1	0	8	250				
PEG3	5178	broad.mit.edu	37	19	57327375	57327375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57327375G>A	ENST00000326441.9	-	10	2798	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	812					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATGGTTGATAGCATCGAAGCT	0.468																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2434-2436)gCt>gTt		paternally expressed 3							138.0	132.0	134.0					19																	57327375		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327375G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2435C>T	19.37:g.57327375G>A	ENSP00000326581:p.Ala812Val					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V|PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|ZIM2_ENST00000599935.1_Intron	p.A812V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2798	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	812					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2435C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	7.455	0.643516	0.14451	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02525	4.26;4.26	4.11	-8.05	0.01106	.	2.028870	0.02362	N	0.077017	T	0.00815	0.0027	N	0.00146	-1.995	.	.	.	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.51996	-0.8634	9	0.33940	T	0.23	-1.3044	9.2396	0.37489	0.1962:0.2458:0.558:0.0	.	688;812;747	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	812	ENSP00000326581:A812V;ENSP00000403051:A812V	ENSP00000326581:A812V	A	-	2	0	ZIM2	62019187	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.000000	0.12993	-1.984000	0.00985	-0.482000	0.04802	GCT		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			159	650	0	0	0	1	0	159	650				
NFATC2	4773	broad.mit.edu	37	20	50048864	50048864	+	Missense_Mutation	SNP	C	C	T	rs373570203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50048864C>T	ENST00000396009.3	-	9	2681	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	NFATC2_ENST00000610033.1_Missense_Mutation_p.R602H|NFATC2_ENST00000371564.3_Missense_Mutation_p.R821H|NFATC2_ENST00000609507.1_Missense_Mutation_p.R602H|NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000609943.1_Missense_Mutation_p.R801H	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	821					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCCGCAGCGCAGCTGCTG	0.652																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2461-2463)cGc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	55.0	56.0	55.0		2402,2462,2462	5.5	1.0	20		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	801/902,821/922,821/926	50048864	1,13005	2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048864C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2462G>A	20.37:g.50048864C>T	ENSP00000379330:p.Arg821His					NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000396009.3_Missense_Mutation_p.R821H	p.R821H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2681	-	Hepatocellular(150;0.248)		821					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2462G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023731	0.75390	0.0	1.16E-4	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.16457	2.34;2.35;2.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.40543	1.245	0.40106	D	0.976437	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.78314	0.945;0.991;0.948;0.899	T	0.03077	-1.1075	10	0.11485	T	0.65	-26.03	19.3156	0.94211	0.0:1.0:0.0:0.0	.	801;801;821;821	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	821;821;801	ENSP00000360619:R821H;ENSP00000379330:R821H;ENSP00000396471:R801H	ENSP00000360619:R821H	R	-	2	0	NFATC2	49482271	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.589000	0.67523	2.567000	0.86603	0.655000	0.94253	CGC		0.652	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		57	490	0	0	0	1	0	57	490				
RBMX2	51634	broad.mit.edu	37	X	129546425	129546425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129546425G>A	ENST00000305536.6	+	6	636	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	191	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TCACCCAGACGCAAGACAGTA	0.488																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(571-573)cGc>cAc		RNA binding motif protein, X-linked 2							55.0	55.0	55.0					X																	129546425		1960	4131	6091	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129546425G>A	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.572G>A	X.37:g.129546425G>A	ENSP00000339090:p.Arg191His						p.R191H	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			6	636	+			191			Lys-rich.		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.572G>A	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	5.481	0.273812	0.10403	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.12984	2.63	4.31	1.46	0.22682	.	0.761838	0.13093	N	0.414413	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.33854	-0.9852	10	0.48119	T	0.1	.	2.6917	0.05122	0.2525:0.0:0.5178:0.2297	.	191	Q9Y388	RBMX2_HUMAN	H	191	ENSP00000339090:R191H	ENSP00000339090:R191H	R	+	2	0	RBMX2	129374106	0.006000	0.16342	0.278000	0.24718	0.031000	0.12232	0.308000	0.19314	0.358000	0.24211	0.600000	0.82982	CGC		0.488	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		79	362	0	0	0	1	0	79	362				
DCAF4L2	138009	broad.mit.edu	37	8	88885634	88885634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885634G>A	ENST00000319675.3	-	1	662	c.566C>T	c.(565-567)gCc>gTc	p.A189V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	189										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGGGACCAGGCACAGGACCA	0.582																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(565-567)gCc>gTc		DDB1 and CUL4 associated factor 4-like 2							155.0	139.0	144.0					8																	88885634		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885634G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.566C>T	8.37:g.88885634G>A	ENSP00000316496:p.Ala189Val						p.A189V	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	662	-			189						Missense_Mutation	SNP	ENST00000319675.3	37	c.566C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133113	0.77662	.	.	ENSG00000176566	ENST00000319675	T	0.67698	-0.28	1.39	1.39	0.22231	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.094456	0.64402	D	0.000001	T	0.63224	0.2493	M	0.70275	2.135	0.36145	D	0.847078	P	0.48230	0.907	P	0.45681	0.49	T	0.66921	-0.5801	10	0.45353	T	0.12	.	6.1055	0.20071	0.0:0.0:1.0:0.0	.	189	Q8NA75	DC4L2_HUMAN	V	189	ENSP00000316496:A189V	ENSP00000316496:A189V	A	-	2	0	DCAF4L2	88954750	1.000000	0.71417	0.771000	0.31576	0.402000	0.30811	5.154000	0.64894	0.750000	0.32877	0.467000	0.42956	GCC		0.582	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		12	670	0	0	0	1	0	12	670				
ALS2CL	259173	broad.mit.edu	37	3	46717749	46717749	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46717749G>T	ENST00000318962.4	-	19	2255	c.2172C>A	c.(2170-2172)ctC>ctA	p.L724L	ALS2CL_ENST00000383742.3_Silent_p.L71L|ALS2CL_ENST00000415953.1_Silent_p.L724L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	724					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCAGCCCAGAGTTCCTGGG	0.607																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(2170-2172)ctC>ctA		ALS2 C-terminal like							74.0	65.0	68.0					3																	46717749		2203	4300	6503	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46717749G>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2172C>A	3.37:g.46717749G>T						ALS2CL_ENST00000415953.1_Silent_p.L724L|ALS2CL_ENST00000383742.3_Silent_p.L71L	p.L724L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	19	2255	-			724					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.2172C>A	CCDS2743.1																																																																																				0.607	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		71	329	1	0	4.79706e-38	1	5.77216e-38	71	329				
NUP54	53371	broad.mit.edu	37	4	77036596	77036596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77036596C>T	ENST00000264883.3	-	12	1587	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	NUP54_ENST00000458189.2_Missense_Mutation_p.D303N|NUP54_ENST00000342467.6_Missense_Mutation_p.D267N|NUP54_ENST00000514987.1_Missense_Mutation_p.D435N	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	483					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTAGATCGTCTTTAATGATG	0.338																																						ENST00000264883.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(1447-1449)Gac>Aac		nucleoporin 54kDa							145.0	134.0	138.0					4																	77036596		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77036596C>T	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1447G>A	4.37:g.77036596C>T	ENSP00000264883:p.Asp483Asn					NUP54_ENST00000458189.2_Missense_Mutation_p.D303N|NUP54_ENST00000514987.1_Missense_Mutation_p.D435N|NUP54_ENST00000342467.6_Missense_Mutation_p.D267N	p.D483N	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			12	1587	-			483					B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.1447G>A	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346035	0.95807	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.64997	1.995	0.80722	D	1	D;P;D	0.54207	0.965;0.82;0.965	P;B;P	0.55713	0.782;0.446;0.629	T	0.69803	-0.5046	9	0.37606	T	0.19	-17.7676	20.5792	0.99380	0.0:1.0:0.0:0.0	.	435;267;483	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	N	483;267;435;303	.	ENSP00000264883:D483N	D	-	1	0	NUP54	77255620	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.704000	0.68347	2.873000	0.98535	0.561000	0.74099	GAC		0.338	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			31	206	0	0	0	1	0	31	206				
TRIM58	25893	broad.mit.edu	37	1	248031265	248031265	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248031265A>C	ENST00000366481.3	+	5	819	c.771A>C	c.(769-771)agA>agC	p.R257S	OR2W3_ENST00000537741.1_5'Flank	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	257						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTCCCAGAAGTAAGGCTG	0.527																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.e5-1		tripartite motif containing 58							95.0	89.0	91.0					1																	248031265		2203	4300	6503	SO:0001630	splice_region_variant	25893					intracellular	zinc ion binding	g.chr1:248031265A>C	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.771-1A>C	1.37:g.248031265A>C							p.R257_splice	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		5	819	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	257					Q6B0H9	Splice_Site	SNP	ENST00000366481.3	37	c.770_splice	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257475	0.39896	.	.	ENSG00000162722	ENST00000366481	T	0.04862	3.54	5.12	1.62	0.23740	.	0.246014	0.28683	N	0.014494	T	0.09555	0.0235	M	0.79805	2.47	0.33518	D	0.591953	P	0.40066	0.701	B	0.39840	0.311	T	0.09422	-1.0675	9	.	.	.	.	6.1537	0.20326	0.7052:0.0:0.2948:0.0	.	257	Q8NG06	TRI58_HUMAN	S	257	ENSP00000355437:R257S	.	R	+	3	2	TRIM58	246097888	1.000000	0.71417	0.885000	0.34714	0.016000	0.09150	1.983000	0.40648	0.482000	0.27582	-0.290000	0.09829	AGA		0.527	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	Missense_Mutation	11	114	0	0	0	1	0	11	114				
LRP5L	91355	broad.mit.edu	37	22	25747794	25747794	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25747794G>T	ENST00000402785.2	-	4	827	c.731C>A	c.(730-732)gCt>gAt	p.A244D	LRP5L_ENST00000444995.3_Intron|LRP5L_ENST00000402859.2_Missense_Mutation_p.A244D			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	244					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGATGGGGCAGCCAAACCGGG	0.582																																						ENST00000402859.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(730-732)gCt>gAt		low density lipoprotein receptor-related protein 5-like							115.0	106.0	109.0					22																	25747794		2200	4300	6500	SO:0001583	missense	91355							g.chr22:25747794G>T	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.731C>A	22.37:g.25747794G>T	ENSP00000384562:p.Ala244Asp					LRP5L_ENST00000444995.3_Intron|LRP5L_ENST00000402785.2_Missense_Mutation_p.A244D	p.A244D	NM_001135772.1	NP_001129244.1	A4QPB2	LRP5L_HUMAN			6	1254	-			244					B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	ENST00000402785.2	37	c.731C>A	CCDS33626.1	.	.	.	.	.	.	.	.	.	.	g	12.13	1.844202	0.32606	.	.	ENSG00000100068	ENST00000402859;ENST00000402785	D;D	0.91792	-2.91;-2.91	1.99	0.87	0.19102	.	.	.	.	.	D	0.90783	0.7106	L	0.31926	0.97	0.33184	D	0.54992	D	0.65815	0.995	P	0.60286	0.872	D	0.89190	0.3550	9	0.72032	D	0.01	.	7.0469	0.25050	0.16:0.0:0.84:0.0	.	244	A4QPB2	LRP5L_HUMAN	D	244	ENSP00000384291:A244D;ENSP00000384562:A244D	ENSP00000384562:A244D	A	-	2	0	LRP5L	24077794	1.000000	0.71417	0.998000	0.56505	0.169000	0.22640	2.415000	0.44635	0.362000	0.24319	0.194000	0.17425	GCT		0.582	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		35	415	1	0	3.66854e-30	1	4.2996e-30	35	415				
SOX8	30812	broad.mit.edu	37	16	1034862	1034862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034862G>A	ENST00000293894.3	+	3	932	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	273					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CAGCAGCGAGGTCATGGGCAC	0.697																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(817-819)Gtc>Atc		SRY (sex determining region Y)-box 8							39.0	37.0	37.0					16																	1034862		2199	4297	6496	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034862G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.817G>A	16.37:g.1034862G>A	ENSP00000293894:p.Val273Ile						p.V273I	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	932	+		Hepatocellular(780;0.00308)	273					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.817G>A	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054954	0.93793	.	.	ENSG00000005513	ENST00000293894	T	0.80123	-1.34	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	M	0.89163	3.01	0.58432	D	0.999999	D	0.61080	0.989	D	0.64410	0.925	D	0.91694	0.5368	10	0.52906	T	0.07	.	16.342	0.83084	0.0:0.0:1.0:0.0	.	273	P57073	SOX8_HUMAN	I	273	ENSP00000293894:V273I	ENSP00000293894:V273I	V	+	1	0	SOX8	974863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.309000	0.77851	0.650000	0.86243	GTC		0.697	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			49	199	0	0	0	1	0	49	199				
NEB	4703	broad.mit.edu	37	2	152381050	152381050	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152381050C>A	ENST00000172853.10	-	124	17397	c.17250G>T	c.(17248-17250)caG>caT	p.Q5750H	NEB_ENST00000603639.1_Missense_Mutation_p.Q7451H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000397345.3_Missense_Mutation_p.Q7451H|NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000427231.2_Missense_Mutation_p.Q7451H			P20929	NEBU_HUMAN	nebulin	5750					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTTGGCTGCCTGTGTGGCCT	0.512																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(22351-22353)caG>caT		nebulin							203.0	204.0	204.0					2																	152381050		2020	4203	6223	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152381050C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17250G>T	2.37:g.152381050C>A	ENSP00000172853:p.Gln5750His					NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000603639.1_Missense_Mutation_p.Q7451H|NEB_ENST00000172853.10_Missense_Mutation_p.Q5750H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000427231.2_Missense_Mutation_p.Q7451H	p.Q7451H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	152	22555	-			5750					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.22353G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.404807|2.404807	0.42613|0.42613	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.47869|.	0.83;1.43;1.43;0.83;0.83|.	5.64|5.64	2.72|2.72	0.32119|0.32119	.|.	0.106358|.	0.64402|.	D|.	0.000003|.	T|T	0.48021|0.48021	0.1477|0.1477	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31383|.	0.006;0.018;0.321|.	B;B;B|.	0.25506|.	0.053;0.043;0.061|.	T|T	0.42882|0.42882	-0.9425|-0.9425	10|5	0.46703|.	T|.	0.11|.	.|.	3.5627|3.5627	0.07888|0.07888	0.1205:0.5605:0.1175:0.2014|0.1205:0.5605:0.1175:0.2014	.|.	5750;7451;2181|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	H|M	5750;7451;7451;1799;2181;5750|74	ENSP00000386259:Q5750H;ENSP00000380505:Q7451H;ENSP00000416578:Q7451H;ENSP00000410961:Q2181H;ENSP00000172853:Q5750H|.	ENSP00000172853:Q5750H|.	Q|R	-|-	3|2	2|0	NEB|NEB	152089296|152089296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.995000|0.995000	0.29706|0.29706	1.376000|1.376000	0.46267|0.46267	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.512	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		33	1029	1	0	2.16457e-27	1	2.50636e-27	33	1029				
VIM	7431	broad.mit.edu	37	10	17276772	17276772	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17276772A>G	ENST00000224237.5	+	5	1108	c.963A>G	c.(961-963)agA>agG	p.R321R	VIM_ENST00000544301.1_Silent_p.R321R|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	321	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTACCGGAGACAGGTGCAGT	0.522																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(961-963)agA>agG		vimentin							85.0	77.0	80.0					10																	17276772		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17276772A>G	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.963A>G	10.37:g.17276772A>G						RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Silent_p.R321R	p.R321R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			6	1376	+			321			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.963A>G	CCDS7120.1																																																																																				0.522	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		51	281	0	0	0	1	0	51	281				
THOC5	8563	broad.mit.edu	37	22	29913321	29913321	+	Missense_Mutation	SNP	C	C	A	rs367583357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29913321C>A	ENST00000490103.1	-	16	1646	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	508					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAAGAGGTACTGGCAATCAC	0.478																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1522-1524)caG>caT		THO complex 5							128.0	102.0	111.0					22																	29913321		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29913321C>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1524G>T	22.37:g.29913321C>A	ENSP00000420306:p.Gln508His					THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H|THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H|CTA-256D12.11_ENST00000411969.1_RNA	p.Q508H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			16	1646	-			508					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1524G>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957691	0.73902	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.81	3.67	0.42095	.	0.152728	0.64402	N	0.000015	T	0.32971	0.0847	M	0.62723	1.935	0.51482	D	0.999928	D	0.56521	0.976	P	0.49999	0.628	T	0.04229	-1.0967	10	0.44086	T	0.13	-26.8255	9.7427	0.40429	0.0:0.661:0.269:0.07	.	508	Q13769	THOC5_HUMAN	H	508	ENSP00000420306:Q508H;ENSP00000380970:Q508H;ENSP00000380969:Q508H;ENSP00000380971:Q508H	ENSP00000380969:Q508H	Q	-	3	2	THOC5	28243321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.071000	0.41500	0.752000	0.32923	0.655000	0.94253	CAG		0.478	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		28	104	1	0	1.06801e-11	1	1.14091e-11	28	104				
CARS2	79587	broad.mit.edu	37	13	111340107	111340107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111340107C>T	ENST00000257347.4	-	5	595	c.532G>A	c.(532-534)Gga>Aga	p.G178R	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	178					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCAATGATTCCTTCAATGAAA	0.403																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(532-534)Gga>Aga		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						185.0	197.0	193.0					13																	111340107		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111340107C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.532G>A	13.37:g.111340107C>T	ENSP00000257347:p.Gly178Arg					CARS2_ENST00000535398.1_5'UTR	p.G178R	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		5	595	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		178					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.532G>A	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157371	0.09236	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.26957	1.7	4.71	1.82	0.25136	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.607895	0.16732	N	0.201803	T	0.07413	0.0187	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.36212	-0.9757	10	0.13108	T	0.6	-2.8229	4.1568	0.10265	0.0:0.3798:0.3475:0.2726	.	178	Q9HA77	SYCM_HUMAN	R	178;169	ENSP00000257347:G178R	ENSP00000257347:G178R	G	-	1	0	CARS2	110138108	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-0.014000	0.12656	0.445000	0.26639	0.557000	0.71058	GGA		0.403	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		258	1084	0	0	0	1	0	258	1084				
TRAK2	66008	broad.mit.edu	37	2	202254168	202254168	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202254168A>G	ENST00000332624.3	-	12	1680	c.1252T>C	c.(1252-1254)Tct>Cct	p.S418P		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	418	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATGAGATAGAGCGGCCCCGT	0.483																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1252-1254)Tct>Cct		trafficking protein, kinesin binding 2							109.0	106.0	107.0					2																	202254168		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202254168A>G	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1252T>C	2.37:g.202254168A>G	ENSP00000328875:p.Ser418Pro						p.S418P	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			12	1680	-			418	Missing (in Ref. 2).		Interaction with HGS (By similarity).		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1252T>C	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226869	0.39399	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.48201	0.82	5.9	2.16	0.27623	Trafficking kinesin-binding protein domain (1);	0.319626	0.30193	N	0.010189	T	0.44623	0.1302	M	0.69823	2.125	0.80722	D	1	B	0.14012	0.009	B	0.22386	0.039	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.0029	0.30308	0.6399:0.1238:0.0:0.2363	.	418	O60296	TRAK2_HUMAN	P	418;324	ENSP00000328875:S418P	ENSP00000328875:S418P	S	-	1	0	TRAK2	201962413	0.996000	0.38824	0.477000	0.27303	0.521000	0.34408	2.190000	0.42630	0.121000	0.18284	0.528000	0.53228	TCT		0.483	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		64	379	0	0	0	1	0	64	379				
SPEG	10290	broad.mit.edu	37	2	220348005	220348005	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220348005G>A	ENST00000312358.7	+	30	5952	c.5820G>A	c.(5818-5820)caG>caA	p.Q1940Q	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1940					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCACTGCAGCCCGAGTTCT	0.662																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5818-5820)caG>caA		SPEG complex locus							10.0	13.0	12.0					2																	220348005		1867	4079	5946	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220348005G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5820G>A	2.37:g.220348005G>A						AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.Q1940Q	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	5952	+		Renal(207;0.0183)	1940					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.5820G>A	CCDS42824.1																																																																																				0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		31	74	0	0	0	1	0	31	74				
NEURL4	84461	broad.mit.edu	37	17	7228773	7228773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228773C>T	ENST00000399464.2	-	8	1401	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	NEURL4_ENST00000315614.7_Silent_p.T462T|NEURL4_ENST00000570460.1_Silent_p.T440T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	462	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACTGGGGGCGTCAAGGGGG	0.582																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1384-1386)acG>acA		neuralized E3 ubiquitin protein ligase 4							72.0	75.0	74.0					17																	7228773		2033	4174	6207	SO:0001819	synonymous_variant	84461							g.chr17:7228773C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1386G>A	17.37:g.7228773C>T						NEURL4_ENST00000570460.1_Silent_p.T440T|NEURL4_ENST00000315614.7_Silent_p.T462T	p.T462T	NM_032442.2	NP_115818.2					8	1401	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.1386G>A	CCDS42251.1																																																																																				0.582	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		9	347	0	0	0	1	0	9	347				
STARD6	147323	broad.mit.edu	37	18	51851195	51851195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851195C>T	ENST00000581310.1	-	9	903	c.530G>A	c.(529-531)gGa>gAa	p.G177E	STARD6_ENST00000307844.3_Missense_Mutation_p.G177E|STARD6_ENST00000580990.2_Missense_Mutation_p.G53E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	177	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGACAATTTTCCTCTCATTTC	0.338																																						ENST00000581310.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8						c.(529-531)gGa>gAa		StAR-related lipid transfer (START) domain containing 6							135.0	132.0	133.0					18																	51851195		2203	4300	6503	SO:0001583	missense	147323				lipid transport		lipid binding	g.chr18:51851195C>T	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.530G>A	18.37:g.51851195C>T	ENSP00000462349:p.Gly177Glu					STARD6_ENST00000307844.3_Missense_Mutation_p.G177E|STARD6_ENST00000580990.2_Missense_Mutation_p.G53E	p.G177E			P59095	STAR6_HUMAN		Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)	9	903	-			177			START.			Missense_Mutation	SNP	ENST00000581310.1	37	c.530G>A	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153918	0.38021	.	.	ENSG00000174448	ENST00000307844	T	0.81415	-1.49	5.53	5.53	0.82687	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000003	D	0.90041	0.6890	M	0.83118	2.625	0.45747	D	0.998645	D	0.89917	1.0	D	0.97110	1.0	D	0.91181	0.4976	10	0.87932	D	0	.	14.9523	0.71083	0.0:1.0:0.0:0.0	.	177	P59095	STAR6_HUMAN	E	177	ENSP00000310814:G177E	ENSP00000310814:G177E	G	-	2	0	STARD6	50105193	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.665000	0.46791	2.586000	0.87340	0.411000	0.27672	GGA		0.338	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		56	259	0	0	0	1	0	56	259				
ZNF761	388561	broad.mit.edu	37	19	53959326	53959326	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53959326A>G	ENST00000454407.1	+	0	2018							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAAAGCTTACAAGTGTAAT	0.438																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							104.0	100.0	102.0					19																	53959326		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959326A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959326A>G										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2018	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.438	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		115	469	0	0	0	1	0	115	469				
USP20	10868	broad.mit.edu	37	9	132631614	132631614	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132631614G>T	ENST00000315480.4	+	13	1460	c.1302G>T	c.(1300-1302)cgG>cgT	p.R434R	USP20_ENST00000372429.3_Silent_p.R434R|USP20_ENST00000358355.1_Silent_p.R434R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	434	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGGCAGCCGGAGGCGGAAGG	0.657																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1300-1302)cgG>cgT		ubiquitin specific peptidase 20							76.0	87.0	83.0					9																	132631614		2103	4229	6332	SO:0001819	synonymous_variant	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132631614G>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1302G>T	9.37:g.132631614G>T						USP20_ENST00000372429.3_Silent_p.R434R|USP20_ENST00000358355.1_Silent_p.R434R	p.R434R			Q9Y2K6	UBP20_HUMAN			13	1460	+		Ovarian(14;0.00556)	434					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.1302G>T	CCDS43892.1																																																																																				0.657	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			26	885	1	0	7.92952e-12	1	8.47903e-12	26	885				
FHOD3	80206	broad.mit.edu	37	18	33935590	33935590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33935590G>A	ENST00000359247.4	+	2	254	c.254G>A	c.(253-255)gGc>gAc	p.G85D	FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D|FHOD3_ENST00000257209.4_Missense_Mutation_p.G85D|FHOD3_ENST00000590592.1_Missense_Mutation_p.G85D	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	85	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGTTGGAAGGCTTCCAGGAT	0.547																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(253-255)gGc>gAc		formin homology 2 domain containing 3							89.0	73.0	79.0					18																	33935590		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:33935590G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.254G>A	18.37:g.33935590G>A	ENSP00000352186:p.Gly85Asp					FHOD3_ENST00000590592.1_Missense_Mutation_p.G85D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D|FHOD3_ENST00000359247.4_Missense_Mutation_p.G85D	p.G85D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			2	376	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	85			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.254G>A		.	.	.	.	.	.	.	.	.	.	G	29.7	5.031482	0.93575	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.22134	1.97;1.97;1.97	6.06	6.06	0.98353	GTPase-binding/formin homology 3 (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.58810	1.83	0.52501	D	0.999959	D;D;P	0.89917	0.999;1.0;0.585	D;D;B	0.87578	0.987;0.998;0.109	T	0.12091	-1.0561	10	0.56958	D	0.05	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	85;85;85	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	D	85	ENSP00000257209:G85D;ENSP00000352186:G85D;ENSP00000411430:G85D	ENSP00000257209:G85D	G	+	2	0	FHOD3	32189588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.405000	0.97313	2.882000	0.98803	0.655000	0.94253	GGC		0.547	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		31	196	0	0	0	1	0	31	196				
REV3L	5980	broad.mit.edu	37	6	111695078	111695078	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111695078T>A	ENST00000358835.3	-	14	4934	c.4480A>T	c.(4480-4482)Agg>Tgg	p.R1494W	REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W|REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W|REV3L_ENST00000435970.1_Missense_Mutation_p.R1416W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1494					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GATAACGACCTCGGTTTTACT	0.378								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4246-4248)Agg>Tgg	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							131.0	126.0	128.0					6																	111695078		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695078T>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4480A>T	6.37:g.111695078T>A	ENSP00000351697:p.Arg1494Trp					REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W|REV3L_ENST00000358835.3_Missense_Mutation_p.R1494W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W	p.R1416W			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5062	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1494					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4246A>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096552	0.36952	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01887	4.67;4.67;4.67;4.58	6.04	3.7	0.42460	Ribonuclease H-like (1);	0.279477	0.30201	N	0.010167	T	0.01523	0.0049	L	0.40543	1.245	0.09310	N	1	P	0.51791	0.948	P	0.46362	0.514	T	0.41324	-0.9515	10	0.87932	D	0	-5.225	14.0764	0.64893	0.0:0.0:0.2772:0.7228	.	1494	O60673	DPOLZ_HUMAN	W	1494;1494;1494;1416	ENSP00000357792:R1494W;ENSP00000357795:R1494W;ENSP00000351697:R1494W;ENSP00000402003:R1416W	ENSP00000351697:R1494W	R	-	1	2	REV3L	111801771	0.014000	0.17966	0.730000	0.30809	0.690000	0.40134	1.863000	0.39459	1.065000	0.40693	0.460000	0.39030	AGG		0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		132	597	0	0	0	1	0	132	597				
KLHDC4	54758	broad.mit.edu	37	16	87744864	87744864	+	Missense_Mutation	SNP	G	G	A	rs141733244	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87744864G>A	ENST00000270583.5	-	9	1079	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	341										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAAACCAACGGTTCCTGGTG	0.587																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1021-1023)Cgt>Tgt		kelch domain containing 4		G	CYS/ARG,CYS/ARG,CYS/ARG	2,4394	2.1+/-5.4	0,2,2196	108.0	103.0	105.0		850,928,1021	3.6	1.0	16	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	180,180,180	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging	284/464,310/490,341/521	87744864	2,12994	2198	4300	6498	SO:0001583	missense	54758							g.chr16:87744864G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1021C>T	16.37:g.87744864G>A	ENSP00000270583:p.Arg341Cys					KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C	p.R341C	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	9	1079	-			341					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.1021C>T	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173339	0.57584	4.55E-4	0.0	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.18502	2.21;2.21;2.21	4.54	3.59	0.41128	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.93462	3.42	0.80722	D	1	P;P;D;D	0.89917	0.892;0.939;1.0;1.0	B;B;D;D	0.83275	0.376;0.357;0.978;0.996	T	0.59252	-0.7489	10	0.59425	D	0.04	-18.6654	11.4437	0.50110	0.0889:0.0:0.9111:0.0	.	160;284;310;341	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	C	341;160;310;284	ENSP00000270583:R341C;ENSP00000325717:R310C;ENSP00000262530:R284C	ENSP00000270583:R341C	R	-	1	0	KLHDC4	86302365	1.000000	0.71417	0.997000	0.53966	0.244000	0.25665	8.659000	0.91116	0.910000	0.36722	0.591000	0.81541	CGT		0.587	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		60	376	0	0	0	1	0	60	376				
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269043G>A	ENST00000405948.2	+	7	1832	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1411-1413)aGg>aAg		piggyBac transposable element derived 1							168.0	166.0	167.0					6																	28269043		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269043G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1412G>A	6.37:g.28269043G>A	ENSP00000385213:p.Arg471Lys					PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	1832	+			471					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1412G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	0.795	-0.757490	0.03019	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17370	2.28;2.28	4.66	2.85	0.33270	.	0.521782	0.16320	N	0.219617	T	0.02494	0.0076	L	0.33485	1.01	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.46498	-0.9187	10	0.02654	T	1	-8.2565	5.8593	0.18736	0.0984:0.0:0.7124:0.1891	.	471	Q96JS3	PGBD1_HUMAN	K	471	ENSP00000385213:R471K;ENSP00000259883:R471K	ENSP00000259883:R471K	R	+	2	0	PGBD1	28377022	0.006000	0.16342	0.013000	0.15412	0.981000	0.71138	0.070000	0.14573	0.673000	0.31224	0.655000	0.94253	AGG		0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			126	645	0	0	0	1	0	126	645				
GPRIN3	285513	broad.mit.edu	37	4	90170801	90170801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90170801G>A	ENST00000609438.1	-	2	979	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S154F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	154										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCATCAGGGAATCTTCAGG	0.512																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(460-462)tCc>tTc		GPRIN family member 3							161.0	155.0	157.0					4																	90170801		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170801G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.461C>T	4.37:g.90170801G>A	ENSP00000476603:p.Ser154Phe						p.S154F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	979	-		Hepatocellular(203;0.114)	154					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.461C>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115217	0.37339	.	.	ENSG00000185477	ENST00000333209	T	0.14144	2.53	4.98	3.27	0.37495	.	1.263240	0.06064	N	0.658931	T	0.12347	0.0300	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.34204	-0.9838	10	0.72032	D	0.01	0.6284	10.0464	0.42188	0.1562:0.0:0.8438:0.0	.	154	Q6ZVF9	GRIN3_HUMAN	F	154	ENSP00000328672:S154F	ENSP00000328672:S154F	S	-	2	0	GPRIN3	90389824	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.839000	0.27586	0.815000	0.34398	-0.145000	0.13849	TCC		0.512	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		119	515	0	0	0	1	0	119	515				
ABHD16A	7920	broad.mit.edu	37	6	31658380	31658380	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31658380C>A	ENST00000395952.3	-	10	1006		c.e10-1		ABHD16A_ENST00000440843.2_Splice_Site|ABHD16A_ENST00000375842.4_Splice_Site|ABHD16A_ENST00000471644.1_5'Flank|XXbac-BPG32J3.20_ENST00000461287.1_Splice_Site	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A							integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCAGATCACCTAGGAAGGAG	0.592																																						ENST00000461287.1																			0											c.e12-1									84.0	78.0	80.0					6																	31658380		1508	2707	4215	SO:0001630	splice_region_variant	0							g.chr6:31658380C>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.844-1G>T	6.37:g.31658380C>A						ABHD16A_ENST00000395952.3_Splice_Site|ABHD16A_ENST00000440843.2_Splice_Site|ABHD16A_ENST00000375842.4_Splice_Site								12	1248	-								A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Splice_Site	SNP	ENST00000395952.3	37		CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	9.244	1.038973	0.19669	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3423	0.60551	0.1591:0.8409:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABHD16A	31766359	1.000000	0.71417	0.970000	0.41538	0.004000	0.04260	6.745000	0.74860	1.261000	0.44149	-0.169000	0.13324	.		0.592	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4		Intron	65	306	1	0	3.07184e-27	1	3.5546e-27	65	306				
CRTC3	64784	broad.mit.edu	37	15	91083357	91083357	+	Silent	SNP	G	G	A	rs192214530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91083357G>A	ENST00000268184.6	+	2	223	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Silent_p.A73A|CRTC3_ENST00000420329.2_Silent_p.A73A			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	73	Required for interaction with HTLV-1 TAX.				energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAGCAGTGCGTCAGAGTTTC	0.423			T	MAML2	salivary gland mucoepidermoid								G|||	1	0.000199681	0.0	0.0	5008	,	,		17350	0.001		0.0	False		,,,				2504	0.0					ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(217-219)gcG>gcA		CREB regulated transcription coactivator 3							96.0	91.0	93.0					15																	91083357		2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91083357G>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.219G>A	15.37:g.91083357G>A						CRTC3_ENST00000560098.1_Silent_p.A73A|CRTC3_ENST00000268184.6_Silent_p.A73A|CRTC3_ENST00000558619.1_3'UTR	p.A73A	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		2	366	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		73			Required for interaction with HTLV-1 TAX.		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.219G>A	CCDS32331.1																																																																																				0.423	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		52	175	0	0	0	1	0	52	175				
OR52I2	143502	broad.mit.edu	37	11	4608988	4608988	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608988G>T	ENST00000312614.4	+	1	968	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCATCCCAGCCACCTTAAA	0.522																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(946-948)Gcc>Tcc		olfactory receptor, family 52, subfamily I, member 2							198.0	187.0	191.0					11																	4608988		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608988G>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.946G>T	11.37:g.4608988G>T	ENSP00000308764:p.Ala316Ser						p.A316S	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	968	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	316					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.946G>T	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245293	0.22796	.	.	ENSG00000226288	ENST00000312614	T	0.62788	-0.0	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.499351	0.16881	N	0.195686	T	0.41026	0.1141	N	0.12182	0.205	0.25894	N	0.983433	B	0.22003	0.063	B	0.17433	0.018	T	0.35943	-0.9768	10	0.87932	D	0	-4.6209	8.0732	0.30701	0.0:0.7377:0.1695:0.0927	.	316	Q8NH67	O52I2_HUMAN	S	316	ENSP00000308764:A316S	ENSP00000308764:A316S	A	+	1	0	OR52I2	4565564	0.000000	0.05858	0.973000	0.42090	0.344000	0.29017	-0.301000	0.08232	0.429000	0.26202	-0.936000	0.02699	GCC		0.522	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		64	693	1	0	5.80444e-35	1	6.91851e-35	64	693				
SHANK3	85358	broad.mit.edu	37	22	51142313	51142313	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51142313G>T	ENST00000414786.2	+	13	1823	c.1596G>T	c.(1594-1596)cgG>cgT	p.R532R	SHANK3_ENST00000445220.2_Silent_p.R547R|SHANK3_ENST00000262795.3_Silent_p.R562R			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	546					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGACGAAGCGGCTCTTTCGGC	0.642																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(1594-1596)cgG>cgT		SH3 and multiple ankyrin repeat domains 3							34.0	39.0	37.0					22																	51142313		2117	4202	6319	SO:0001819	synonymous_variant	85358							g.chr22:51142313G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1596G>T	22.37:g.51142313G>T						SHANK3_ENST00000445220.2_Silent_p.R547R|SHANK3_ENST00000262795.3_Silent_p.R562R	p.R532R			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	13	1823	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	562					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.1596G>T																																																																																					0.642	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		10	55	1	0	6.40141e-05	1	6.5221e-05	10	55				
TENM3	55714	broad.mit.edu	37	4	183675695	183675695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183675695C>A	ENST00000511685.1	+	22	4298	c.4175C>A	c.(4174-4176)cCt>cAt	p.P1392H	TENM3_ENST00000406950.2_Missense_Mutation_p.P1392H|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1392					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTGGAATATCCTGTGGGGAAG	0.493																																						ENST00000511685.1																			0											c.(4174-4176)cCt>cAt		teneurin transmembrane protein 3							58.0	57.0	57.0					4																	183675695		2012	4174	6186	SO:0001583	missense	55714							g.chr4:183675695C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4175C>A	4.37:g.183675695C>A	ENSP00000424226:p.Pro1392His					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1392H	p.P1392H							22	4298	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4175C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499776	0.44455	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86497	-2.13;-2.13	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.80093	0.4560	N	0.08118	0	0.40238	D	0.977923	B	0.26258	0.145	B	0.33196	0.159	T	0.75431	-0.3320	9	0.38643	T	0.18	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1392	Q9P273	TEN3_HUMAN	H	1392	ENSP00000424226:P1392H;ENSP00000385276:P1392H	ENSP00000385276:P1392H	P	+	2	0	ODZ3	183912689	0.401000	0.25303	0.201000	0.23476	0.894000	0.52154	3.799000	0.55529	2.941000	0.99782	0.655000	0.94253	CCT		0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			16	117	1	0	5.3912e-06	1	5.54037e-06	16	117				
DEAF1	10522	broad.mit.edu	37	11	688045	688045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:688045G>T	ENST00000382409.3	-	4	1014	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	177					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGGGGTTGGAGGAGACTGAGG	0.572																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(529-531)cCt>cAt		DEAF1 transcription factor							49.0	57.0	54.0					11																	688045		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:688045G>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.530C>A	11.37:g.688045G>T	ENSP00000371846:p.Pro177His					DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	p.P177H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	4	1014	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	177					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.530C>A	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742636	0.89573	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.68624	-0.34	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	L	0.27053	0.805	0.44780	D	0.997786	D	0.71674	0.998	P	0.60173	0.87	T	0.74176	-0.3750	10	0.87932	D	0	-12.841	15.6697	0.77264	0.0:0.0:1.0:0.0	.	177	O75398	DEAF1_HUMAN	H	177;177;163;100	ENSP00000371846:P177H	ENSP00000341902:P177H	P	-	2	0	DEAF1	678045	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	9.261000	0.95576	2.349000	0.79799	0.655000	0.94253	CCT		0.572	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		18	215	1	0	1.33834e-09	1	1.40959e-09	18	215				
NUP210L	91181	broad.mit.edu	37	1	153991470	153991470	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153991470C>A	ENST00000368559.3	-	33	4663	c.4592G>T	c.(4591-4593)aGg>aTg	p.R1531M	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M|NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1531					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCCGGACTCCTGGCCACTCC	0.428																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(4591-4593)aGg>aTg		nucleoporin 210kDa-like							90.0	87.0	88.0					1																	153991470		1884	4123	6007	SO:0001583	missense	91181					integral to membrane		g.chr1:153991470C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4592G>T	1.37:g.153991470C>A	ENSP00000357547:p.Arg1531Met					NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M|NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M	p.R1531M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		33	4663	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1531					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4592G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372609	0.82573	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.25579	3.4;1.79;3.13	5.61	5.61	0.85477	.	0.084000	0.48286	D	0.000199	T	0.30510	0.0767	M	0.69358	2.11	0.36448	D	0.865884	D;D	0.76494	0.999;0.999	P;P	0.61328	0.862;0.887	T	0.11372	-1.0590	10	0.33940	T	0.23	-6.8879	9.0841	0.36570	0.0:0.8717:0.0:0.1283	.	1531;1531	E7EP56;Q5VU65	.;P210L_HUMAN	M	1531;464;1531	ENSP00000357547:R1531M;ENSP00000357541:R464M;ENSP00000271854:R1531M	ENSP00000271854:R1531M	R	-	2	0	NUP210L	152258094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.903000	0.39858	2.631000	0.89168	0.655000	0.94253	AGG		0.428	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		71	360	1	0	3.41413e-29	1	3.98584e-29	71	360				
PTX4	390667	broad.mit.edu	37	16	1537406	1537406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537406G>A	ENST00000447419.2	-	2	732	c.707C>T	c.(706-708)cCt>cTt	p.P236L	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.P231L			Q96A99	PTX4_HUMAN	pentraxin 4, long	236						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGAGGCTGGAGGCTCCCGCCT	0.662																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(706-708)cCt>cTt		pentraxin 4, long							28.0	34.0	32.0					16																	1537406		2199	4297	6496	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537406G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.707C>T	16.37:g.1537406G>A	ENSP00000445277:p.Pro236Leu					PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.P231L	p.P236L			Q96A99	PTX4_HUMAN			2	732	-			236						Missense_Mutation	SNP	ENST00000447419.2	37	c.707C>T		.	.	.	.	.	.	.	.	.	.	G	14.09	2.431251	0.43122	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05199	3.62;3.48	5.15	-0.739	0.11120	.	3.081050	0.00877	N	0.002089	T	0.11495	0.0280	L	0.48642	1.525	0.09310	N	1	D	0.58970	0.984	P	0.55161	0.77	T	0.19224	-1.0312	10	0.25751	T	0.34	.	2.4394	0.04490	0.1607:0.2717:0.4279:0.1397	.	231	Q96A99-2	.	L	236;231	ENSP00000445277:P236L;ENSP00000293922:P231L	ENSP00000293922:P231L	P	-	2	0	PTX4	1477407	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.037000	0.12164	-0.241000	0.09681	-0.165000	0.13383	CCT		0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		66	286	0	0	0	1	0	66	286				
HMP19	51617	broad.mit.edu	37	5	173473797	173473797	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173473797C>T	ENST00000303177.3	+	2	301	c.39C>T	c.(37-39)acC>acT	p.T13T	NSG2_ENST00000521585.1_Silent_p.T13T	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		13					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGAAGGGAACCAAGCCGCCTT	0.527																																						ENST00000303177.3																			0											c.(37-39)acC>acT									212.0	190.0	198.0					5																	173473797		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:173473797C>T																												ENST00000303177.3:c.39C>T	5.37:g.173473797C>T						NSG2_ENST00000521585.1_Silent_p.T13T	p.T13T	NM_015980.4	NP_057064.1					2	301	+								B2R5Y0|D3DQN0|Q9UHX8	Silent	SNP	ENST00000303177.3	37	c.39C>T	CCDS4391.1																																																																																				0.527	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			57	742	0	0	0	1	0	57	742				
PARP14	54625	broad.mit.edu	37	3	122446723	122446723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122446723C>T	ENST00000474629.2	+	16	5272	c.5006C>T	c.(5005-5007)gCc>gTc	p.A1669V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1669	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACTATGGATGCCAAGAATGGC	0.453																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(5005-5007)gCc>gTc		poly (ADP-ribose) polymerase family, member 14							62.0	63.0	62.0					3																	122446723		1909	4128	6037	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122446723C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5006C>T	3.37:g.122446723C>T	ENSP00000418194:p.Ala1669Val						p.A1669V	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	16	5272	+			1669			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5006C>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160607	0.38119	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.10477	2.87	5.69	0.605	0.17553	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.769194	0.11796	N	0.528684	T	0.09423	0.0232	L	0.60845	1.875	0.09310	N	1	P	0.36183	0.542	B	0.24006	0.05	T	0.20672	-1.0268	10	0.30078	T	0.28	.	10.1445	0.42755	0.6142:0.3129:0.0:0.0729	.	1669	Q460N5	PAR14_HUMAN	V	1669;1588;665	ENSP00000418194:A1669V	ENSP00000381224:A665V	A	+	2	0	PARP14	123929413	0.000000	0.05858	0.997000	0.53966	0.990000	0.78478	-1.492000	0.02300	0.159000	0.19401	0.655000	0.94253	GCC		0.453	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		38	147	0	0	0	1	0	38	147				
MAMDC2	256691	broad.mit.edu	37	9	72741317	72741317	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72741317C>T	ENST00000377182.4	+	6	1503	c.886C>T	c.(886-888)Cct>Tct	p.P296S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	296	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTTCAGTGCTCCTTACCCCAT	0.572																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(886-888)Cct>Tct		MAM domain containing 2							79.0	55.0	63.0					9																	72741317		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72741317C>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.886C>T	9.37:g.72741317C>T	ENSP00000366387:p.Pro296Ser					MAMDC2-AS1_ENST00000591368.1_RNA	p.P296S	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			6	1503	+			296			MAM 2.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.886C>T	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497224	0.85069	.	.	ENSG00000165072	ENST00000377182	T	0.01918	4.56	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.047761	0.85682	D	0.000000	T	0.09730	0.0239	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	T	0.44513	-0.9323	10	0.08179	T	0.78	-10.1669	20.5792	0.99380	0.0:1.0:0.0:0.0	.	296	Q7Z304	MAMC2_HUMAN	S	296	ENSP00000366387:P296S	ENSP00000366387:P296S	P	+	1	0	MAMDC2	71931137	1.000000	0.71417	0.491000	0.27477	0.792000	0.44763	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	CCT		0.572	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		29	148	0	0	0	1	0	29	148				
ZNF474	133923	broad.mit.edu	37	5	121488445	121488445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121488445C>T	ENST00000296600.4	+	2	1143	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	254							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AAATGACCGGCTCCCTGTGGA	0.522																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(760-762)Ctc>Ttc		zinc finger protein 474							62.0	65.0	64.0					5																	121488445		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121488445C>T	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.760C>T	5.37:g.121488445C>T	ENSP00000296600:p.Leu254Phe					ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	p.L254F	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	1143	+		all_cancers(142;0.229)|Prostate(80;0.0387)	254					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.760C>T	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002121	0.35320	.	.	ENSG00000164185	ENST00000296600	T	0.54866	0.55	5.43	5.43	0.79202	.	0.000000	0.38959	U	0.001513	T	0.67683	0.2919	M	0.81497	2.545	0.34481	D	0.703864	D	0.89917	1.0	D	0.75484	0.986	T	0.71820	-0.4477	10	0.15952	T	0.53	-14.7049	8.4188	0.32687	0.0:0.8336:0.0:0.1664	.	254	Q6S9Z5	ZN474_HUMAN	F	254	ENSP00000296600:L254F	ENSP00000296600:L254F	L	+	1	0	ZNF474	121516344	0.950000	0.32346	0.781000	0.31783	0.066000	0.16364	1.862000	0.39448	2.544000	0.85801	0.655000	0.94253	CTC		0.522	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		59	298	0	0	0	1	0	59	298				
SEC24B	10427	broad.mit.edu	37	4	110452568	110452568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110452568C>T	ENST00000265175.5	+	20	3335	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	SEC24B_ENST00000504968.2_Missense_Mutation_p.R1124W|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1094					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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	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)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TACAAGCACACGGCTGGATGA	0.343																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3280-3282)Cgg>Tgg		SEC24 family member B							110.0	104.0	106.0					4																	110452568		1877	4124	6001	SO:0001583	missense	10427				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	protein binding|transporter activity|zinc ion binding	g.chr4:110452568C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3280C>T	4.37:g.110452568C>T	ENSP00000265175:p.Arg1094Trp					SEC24B_ENST00000504968.2_Missense_Mutation_p.R1124W|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W	p.R1094W	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	20	3335	+		Hepatocellular(203;0.217)	1094					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.3280C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323675	0.81580	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.90133	-2.62;-2.62;-2.62	5.48	4.63	0.57726	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.837;0.998;0.977;0.998;0.999	D	0.96419	0.9310	10	0.87932	D	0	-14.7145	14.6548	0.68825	0.0:0.9288:0.0:0.0712	.	1008;693;1124;1059;1094	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	W	1124;1059;1094	ENSP00000428564:R1124W;ENSP00000382051:R1059W;ENSP00000265175:R1094W	ENSP00000265175:R1094W	R	+	1	2	SEC24B	110672017	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.129000	0.50500	2.579000	0.87056	0.650000	0.86243	CGG		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			67	314	0	0	0	1	0	67	314				
RMDN3	55177	broad.mit.edu	37	15	41043684	41043684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41043684C>T	ENST00000260385.6	-	3	1531	c.464G>A	c.(463-465)aGc>aAc	p.S155N	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S155N			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	155					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GTAGACAGAGCTGGAGCCAGT	0.587																																						ENST00000260385.6																			0											c.(463-465)aGc>aAc		regulator of microtubule dynamics 3							84.0	85.0	85.0					15																	41043684		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41043684C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.464G>A	15.37:g.41043684C>T	ENSP00000260385:p.Ser155Asn					RMDN3_ENST00000338376.3_Missense_Mutation_p.S155N|RMDN3_ENST00000558560.1_5'UTR	p.S155N							3	1531	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.464G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794876	0.90453	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.47177	0.85;0.85	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	M	0.72894	2.215	0.46701	D	0.999169	D	0.67145	0.996	D	0.63877	0.919	T	0.69661	-0.5085	10	0.56958	D	0.05	-12.9295	18.4611	0.90738	0.0:1.0:0.0:0.0	.	155	Q96TC7	RMD3_HUMAN	N	155;155;92	ENSP00000260385:S155N;ENSP00000342493:S155N	ENSP00000260385:S155N	S	-	2	0	FAM82A2	38830976	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.871000	0.69628	2.457000	0.83068	0.555000	0.69702	AGC		0.587	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		119	484	0	0	0	1	0	119	484				
ATF7IP	55729	broad.mit.edu	37	12	14634068	14634068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14634068C>T	ENST00000540793.1	+	12	3384	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.R1085*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1077					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCTCCCTTGCGAGGAACTGT	0.488																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3253-3255)Cga>Tga		activating transcription factor 7 interacting protein							80.0	78.0	79.0					12																	14634068		2203	4300	6503	SO:0001587	stop_gained	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14634068C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3229C>T	12.37:g.14634068C>T	ENSP00000444589:p.Arg1077*					ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.R1077*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*	p.R1085*			Q6VMQ6	MCAF1_HUMAN			13	3573	+			1077					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	37	c.3253C>T	CCDS8663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.375134|9.375134	0.99151|0.99151	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000535738|ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.|.	.|.	.|.	5.43|5.43	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.52532	.|D	.|0.000065	T|.	0.36220|.	0.0959|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25950|.	-1.0117|.	3|.	.|0.02654	.|T	.|1	-10.9841|-10.9841	15.726|15.726	0.77761|0.77761	0.1941:0.8059:0.0:0.0|0.1941:0.8059:0.0:0.0	.|.	.|.	.|.	.|.	V|X	90|1077;1076;1076;1085;1077	.|.	.|ENSP00000261168:R1077X	A|R	+|+	2|1	0|2	ATF7IP|ATF7IP	14525335|14525335	0.725000|0.725000	0.28048|0.28048	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	1.798000|1.798000	0.38814|0.38814	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.488	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		69	364	0	0	0	1	0	69	364				
RPA2	6118	broad.mit.edu	37	1	28218701	28218701	+	Silent	SNP	G	G	A	rs367687334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28218701G>A	ENST00000373912.3	-	9	1085	c.786C>T	c.(784-786)gaC>gaT	p.D262D	RPA2_ENST00000373909.3_Silent_p.D270D|RPA2_ENST00000313433.7_Silent_p.D350D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	262	Asp/Glu-rich (acidic).|Interaction with RAD52, TIPIN, UNG and XPA.				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTAAAATGGTCATCATCCA	0.403								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(784-786)gaC>gaT	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							115.0	108.0	111.0					1																	28218701		2203	4300	6503	SO:0001819	synonymous_variant	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28218701G>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.786C>T	1.37:g.28218701G>A						RPA2_ENST00000313433.7_Silent_p.D350D|RPA2_ENST00000373909.3_Silent_p.D270D	p.D262D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	9	1085	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	262			Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).		Q52II0|Q5TEI9|Q5TEJ5	Silent	SNP	ENST00000373912.3	37	c.786C>T	CCDS314.1																																																																																				0.403	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		46	405	0	0	0	1	0	46	405				
DISC1	27185	broad.mit.edu	37	1	231829955	231829955	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231829955G>T	ENST00000602281.1	+	2	504	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	DISC1_ENST00000439617.2_Missense_Mutation_p.D151Y|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	151	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCAGCCATGGATAGTTCTGA	0.612																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(451-453)Gat>Tat		disrupted in schizophrenia 1							45.0	46.0	46.0					1																	231829955		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231829955G>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.451G>T	1.37:g.231829955G>T	ENSP00000473425:p.Asp151Tyr					TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y	p.D151Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			2	504	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	151			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.451G>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048278	0.55110	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.89	2.94	0.34122	.	0.558568	0.18836	N	0.129833	T	0.40297	0.1111	L	0.36672	1.1	0.21290	N	0.99974	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.844;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.974;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.974	P;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;P	0.78314	0.534;0.988;0.961;0.991;0.988;0.961;0.988;0.988;0.988;0.988;0.705;0.988;0.991;0.988;0.964;0.977;0.991;0.964;0.977;0.988;0.705	T	0.04255	-1.0965	10	0.44086	T	0.13	-23.4826	9.4905	0.38955	0.0:0.1529:0.6902:0.1569	.	151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	Y	151;151;151;151;151;151;151;151;151;151;151;151;2	ENSP00000403888:D151Y;ENSP00000320784:D151Y;ENSP00000355596:D151Y;ENSP00000443996:D151Y;ENSP00000440909:D151Y;ENSP00000355593:D151Y;ENSP00000440953:D151Y;ENSP00000295051:D151Y;ENSP00000441193:D151Y	ENSP00000295051:D151Y	D	+	1	0	DISC1	229896578	0.945000	0.32115	0.881000	0.34555	0.052000	0.14988	2.216000	0.42871	2.519000	0.84933	0.655000	0.94253	GAT		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		25	261	1	0	4.72057e-08	1	4.92026e-08	25	261				
ZAN	7455	broad.mit.edu	37	7	100352880	100352880	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100352880C>T	ENST00000348028.3	+	0	3321				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTACGAATCCTGTGCTTGTC	0.567																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							136.0	142.0	140.0					7																	100352880		1958	4141	6099			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352880C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352880C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3304	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		186	833	0	0	0	1	0	186	833				
WDR1	9948	broad.mit.edu	37	4	10099401	10099401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10099401C>T	ENST00000499869.2	-	5	685	c.492G>A	c.(490-492)acG>acA	p.T164T	WDR1_ENST00000382452.2_Silent_p.T164T|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	164					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCGCTTCCCGTGGCCAGCC	0.507																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(490-492)acG>acA		WD repeat domain 1							67.0	72.0	70.0					4																	10099401		1970	4158	6128	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10099401C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.492G>A	4.37:g.10099401C>T						WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Silent_p.T164T	p.T164T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	5	774	-			164					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.492G>A	CCDS54740.1																																																																																				0.507	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			49	201	0	0	0	1	0	49	201				
OR52N2	390077	broad.mit.edu	37	11	5842359	5842359	+	Missense_Mutation	SNP	G	G	A	rs150750582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5842359G>A	ENST00000317037.2	+	1	816	c.794G>A	c.(793-795)cGt>cAt	p.R265H	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R265H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCACTCATCGTTTTGTAGGA	0.438																																						ENST00000317037.2																			1	Substitution - Missense(1)	p.R265H(1)	pancreas(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(793-795)cGt>cAt		olfactory receptor, family 52, subfamily N, member 2		G	HIS/ARG	0,4402		0,0,2201	200.0	161.0	174.0		794	4.2	0.5	11	dbSNP_134	174	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR52N2	NM_001005174.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	265/322	5842359	1,12993	2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842359G>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.794G>A	11.37:g.5842359G>A	ENSP00000322801:p.Arg265His					TRIM5_ENST00000380027.1_Intron	p.R265H	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	816	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	265					Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.794G>A	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	G	7.467	0.645803	0.14451	0.0	1.16E-4	ENSG00000180988	ENST00000317037	T	0.00130	8.69	6.09	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.116572	0.39544	N	0.001333	T	0.00271	0.0008	M	0.85859	2.78	0.20196	N	0.999924	B	0.15719	0.014	B	0.23275	0.045	T	0.38499	-0.9658	10	0.66056	D	0.02	.	15.0853	0.72148	0.1298:0.0:0.8702:0.0	.	265	Q8NGI0	O52N2_HUMAN	H	265	ENSP00000322801:R265H	ENSP00000322801:R265H	R	+	2	0	OR52N2	5798935	0.026000	0.19158	0.498000	0.27564	0.003000	0.03518	1.478000	0.35442	0.473000	0.27368	-0.829000	0.03081	CGT		0.438	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		99	466	0	0	0	1	0	99	466				
TNFRSF19	55504	broad.mit.edu	37	13	24242173	24242173	+	Missense_Mutation	SNP	C	C	T	rs368392120		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24242173C>T	ENST00000382258.4	+	8	995	c.791C>T	c.(790-792)cCg>cTg	p.P264L	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P264L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	264					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCCCAACCCGGCGACTCTT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		16161	0.0		0.0	False		,,,				2504	0.001					ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(790-792)cCg>cTg		tumor necrosis factor receptor superfamily, member 19		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405		0,1,2202	50.0	45.0	47.0		791,791,395,791	-1.9	0.0	13		47	0,8600		0,0,4300	no	missense,missense,missense,missense	TNFRSF19	NM_148957.3,NM_018647.3,NM_001204459.1,NM_001204458.1	98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	264/418,264/424,132/286,264/418	24242173	1,13005	2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24242173C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.791C>T	13.37:g.24242173C>T	ENSP00000371693:p.Pro264Leu					TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L	p.P264L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	8	975	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	264					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.791C>T	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066955	0.36470	2.27E-4	0.0	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.76709	-1.04;1.54;-1.04;-1.04	5.71	-1.91	0.07641	.	1.309070	0.04834	N	0.439242	T	0.62429	0.2427	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24920	0.003;0.114;0.114	B;B;B	0.15052	0.0;0.012;0.012	T	0.52215	-0.8605	10	0.56958	D	0.05	-4.2253	6.0373	0.19714	0.5379:0.2781:0.184:0.0	.	132;264;264	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	L	264;132;264;264	ENSP00000248484:P264L;ENSP00000385408:P132L;ENSP00000371693:P264L;ENSP00000371698:P264L	ENSP00000248484:P264L	P	+	2	0	TNFRSF19	23140173	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	0.440000	0.21592	-0.097000	0.12307	-0.128000	0.14901	CCG		0.557	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		13	58	0	0	0	1	0	13	58				
PNN	5411	broad.mit.edu	37	14	39650344	39650344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650344G>A	ENST00000216832.4	+	9	1498	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	477	Gln-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CTcaacctcagcctcagtctc	0.502																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1429-1431)caG>caA		pinin, desmosome associated protein							42.0	44.0	44.0					14																	39650344		2203	4300	6503	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650344G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1431G>A	14.37:g.39650344G>A						PNN_ENST00000557680.1_Intron	p.Q477Q	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1498	+	Hepatocellular(127;0.213)		477			Gln-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.1431G>A	CCDS9671.1																																																																																				0.502	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		59	246	0	0	0	1	0	59	246				
TAAR8	83551	broad.mit.edu	37	6	132873992	132873992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132873992C>T	ENST00000275200.1	+	1	161	c.161C>T	c.(160-162)aCt>aTt	p.T54I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	54					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTAGTAATGACTTCTGTTCTT	0.448																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(160-162)aCt>aTt		trace amine associated receptor 8							192.0	195.0	194.0					6																	132873992		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132873992C>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.161C>T	6.37:g.132873992C>T	ENSP00000275200:p.Thr54Ile						p.T54I	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	161	+	Breast(56;0.112)		54					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.161C>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.521401	0.00967	.	.	ENSG00000146385	ENST00000275200	T	0.35048	1.33	4.72	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	0.762462	0.11154	N	0.593777	T	0.02494	0.0076	N	0.01003	-1.06	0.20307	N	0.999914	B	0.02656	0.0	B	0.11329	0.006	T	0.47032	-0.9148	10	0.02654	T	1	-2.5206	10.2876	0.43577	0.0:0.1991:0.0:0.8009	.	54	Q969N4	TAAR8_HUMAN	I	54	ENSP00000275200:T54I	ENSP00000275200:T54I	T	+	2	0	TAAR8	132915685	0.000000	0.05858	0.037000	0.18230	0.579000	0.36224	-0.075000	0.11431	-0.328000	0.08539	0.655000	0.94253	ACT		0.448	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		193	923	0	0	0	1	0	193	923				
DHX40	79665	broad.mit.edu	37	17	57651186	57651186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57651186C>T	ENST00000251241.4	+	5	779	c.632C>T	c.(631-633)gCa>gTa	p.A211V	DHX40_ENST00000451169.2_Missense_Mutation_p.A112V|DHX40_ENST00000425628.3_Missense_Mutation_p.A134V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	211	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTAATGTCAGCAACTATGGAA	0.358																																						ENST00000451169.2																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(334-336)gCa>gTa		DEAH (Asp-Glu-Ala-His) box polypeptide 40							55.0	56.0	56.0					17																	57651186		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57651186C>T	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.632C>T	17.37:g.57651186C>T	ENSP00000251241:p.Ala211Val					DHX40_ENST00000251241.4_Missense_Mutation_p.A211V|DHX40_ENST00000425628.3_Missense_Mutation_p.A134V	p.A112V			Q8IX18	DHX40_HUMAN			5	694	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		211			Helicase ATP-binding.		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.335C>T	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416047	0.96092	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.59772	0.24;0.24	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.956	D	0.90169	0.4234	10	0.87932	D	0	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	134;211	F5H625;Q8IX18	.;DHX40_HUMAN	V	211;134;211;112	ENSP00000251241:A211V;ENSP00000396039:A112V	ENSP00000251241:A211V	A	+	2	0	DHX40	55005968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.777000	0.95525	0.655000	0.94253	GCA		0.358	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		45	216	0	0	0	1	0	45	216				
BSN	8927	broad.mit.edu	37	3	49680444	49680444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680444G>A	ENST00000296452.4	+	3	1491	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	459					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)		AGACCATGCCGAAGGAAAGGG	0.587																																						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.(1375-1377)ccG>ccA		bassoon presynaptic cytomatrix protein							62.0	53.0	56.0					3																	49680444		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49680444G>A	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.1377G>A	3.37:g.49680444G>A							p.P459P	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)	3	1491	+			459					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.1377G>A	CCDS2800.1																																																																																				0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		27	177	0	0	0	1	0	27	177				
ATP6V0C	527	broad.mit.edu	37	16	2569231	2569231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2569231C>A	ENST00000330398.4	+	2	326	c.92C>A	c.(91-93)gCc>gAc	p.A31D	AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000565223.1_5'UTR|AMDHD2_ENST00000413459.3_5'Flank|ATP6V0C_ENST00000564973.1_5'UTR|ATP6C_ENST00000569317.1_Intron|RP11-20I23.1_ENST00000564543.1_Nonsense_Mutation_p.C326*|ATP6V0C_ENST00000568562.1_Nonsense_Mutation_p.C13*|AMDHD2_ENST00000293971.6_5'Flank	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	31					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				CTGGGCGCTGCCTATGGCACA	0.622																																						ENST00000564543.1																			0											c.(976-978)tgC>tgA									47.0	34.0	39.0					16																	2569231		2198	4300	6498	SO:0001583	missense	0							g.chr16:2569231C>A	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.92C>A	16.37:g.2569231C>A	ENSP00000329757:p.Ala31Asp					ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_5'UTR|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.A31D|ATP6V0C_ENST00000568562.1_Nonsense_Mutation_p.C13*|ATP6V0C_ENST00000564973.1_5'UTR	p.C326*							2	1095	+								Q6FH26	Nonsense_Mutation	SNP	ENST00000330398.4	37	c.978C>A	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571982	0.96553	.	.	ENSG00000185883	ENST00000330398	T	0.59772	0.24	4.85	3.89	0.44902	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	H	0.97983	4.12	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.88787	0.3275	10	0.87932	D	0	-8.9343	13.1691	0.59587	0.1611:0.8389:0.0:0.0	.	31	P27449	VATL_HUMAN	D	31	ENSP00000329757:A31D	ENSP00000329757:A31D	A	+	2	0	ATP6V0C	2509232	1.000000	0.71417	0.638000	0.29380	0.527000	0.34593	5.999000	0.70665	1.030000	0.39839	0.556000	0.70494	GCC		0.622	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		41	149	1	0	4.32679e-17	1	4.76816e-17	41	149				
MCM2	4171	broad.mit.edu	37	3	127339940	127339940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127339940C>T	ENST00000265056.7	+	15	2717	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	825					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.R825W(1)		ovary(3)|skin(2)|stomach(1)	6						CCTTTCATTCCGGCGTGACAA	0.542																																						ENST00000265056.7																			1	Substitution - Missense(1)	p.R825W(1)	skin(1)	ovary(3)|skin(2)|stomach(1)	6						c.(2473-2475)Cgg>Tgg		minichromosome maintenance complex component 2							137.0	133.0	134.0					3																	127339940		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127339940C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2473C>T	3.37:g.127339940C>T	ENSP00000265056:p.Arg825Trp					MCM2_ENST00000468414.1_3'UTR	p.R825W	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			15	2717	+			825					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2473C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935240	0.73442	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02525	4.26	5.38	4.5	0.54988	.	0.103066	0.64402	D	0.000007	T	0.12347	0.0300	M	0.76002	2.32	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.99;0.975	D;P;P	0.72625	0.978;0.586;0.582	T	0.00235	-1.1892	10	0.87932	D	0	-21.8525	9.0803	0.36547	0.2869:0.5936:0.1195:0.0	.	875;695;825	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	W	825;729;875	ENSP00000265056:R825W	ENSP00000265056:R825W	R	+	1	2	MCM2	128822630	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	1.833000	0.39161	1.240000	0.43803	0.591000	0.81541	CGG		0.542	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			170	768	0	0	0	1	0	170	768				
MYO3A	53904	broad.mit.edu	37	10	26432413	26432413	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26432413A>T	ENST00000265944.5	+	21	2465	c.2299A>T	c.(2299-2301)Att>Ttt	p.I767F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	767	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGCTAGAGTTATTGAATATGA	0.338																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2299-2301)Att>Ttt		myosin IIIA							128.0	128.0	128.0					10																	26432413		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26432413A>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2299A>T	10.37:g.26432413A>T	ENSP00000265944:p.Ile767Phe					MYO3A_ENST00000543632.1_Intron	p.I767F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			21	2465	+			767			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2299A>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929198	0.73327	.	.	ENSG00000095777	ENST00000265944	D	0.89552	-2.53	6.02	3.68	0.42216	Myosin head, motor domain (3);	0.043720	0.85682	D	0.000000	D	0.95124	0.8420	M	0.93241	3.395	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.94437	0.7655	10	0.87932	D	0	.	10.4349	0.44430	0.8684:0.0:0.1316:0.0	.	767	Q8NEV4	MYO3A_HUMAN	F	767	ENSP00000265944:I767F	ENSP00000265944:I767F	I	+	1	0	MYO3A	26472419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.755000	0.55197	0.512000	0.28257	0.528000	0.53228	ATT		0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		39	165	0	0	0	1	0	39	165				
TSC2	7249	broad.mit.edu	37	16	2134252	2134252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2134252G>T	ENST00000219476.3	+	34	4659	c.4029G>T	c.(4027-4029)gaG>gaT	p.E1343D	TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D|TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D|TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1343					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGCCAGGAGGAGAAGTCGC	0.647			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4027-4029)gaG>gaT		tuberous sclerosis 2							24.0	21.0	22.0					16																	2134252		2187	4292	6479	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2134252G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4029G>T	16.37:g.2134252G>T	ENSP00000219476:p.Glu1343Asp					TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D|TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D	p.E1343D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			34	4659	+		Hepatocellular(780;0.0202)	1343					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4029G>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	4.947	0.175842	0.09443	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.90261	-2.46;-2.56;-2.48;-2.64;-2.6;-2.57	4.86	-0.0207	0.13955	.	0.262292	0.36665	N	0.002468	T	0.75939	0.3918	N	0.12746	0.255	0.34610	D	0.717498	B;B;B;B;B;B;B	0.23735	0.004;0.008;0.008;0.09;0.008;0.008;0.003	B;B;B;B;B;B;B	0.22386	0.008;0.019;0.019;0.039;0.019;0.019;0.004	T	0.64529	-0.6386	10	0.15499	T	0.54	-29.8903	6.3064	0.21141	0.3882:0.0:0.4925:0.1193	.	1228;1240;1320;118;1299;1276;1343	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	D	1343;1277;1300;1240;1228;1320	ENSP00000219476:E1343D;ENSP00000384468:E1277D;ENSP00000248099:E1300D;ENSP00000399232:E1240D;ENSP00000371978:E1228D;ENSP00000344383:E1320D	ENSP00000219476:E1343D	E	+	3	2	TSC2	2074253	0.924000	0.31332	0.999000	0.59377	0.684000	0.39900	0.003000	0.13083	0.122000	0.18314	-0.221000	0.12465	GAG		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		25	63	1	0	1.85244e-09	1	1.95034e-09	25	63				
DTX1	1840	broad.mit.edu	37	12	113496015	113496015	+	Silent	SNP	C	C	T	rs377259444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496015C>T	ENST00000257600.3	+	1	521	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	6					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCAGGCCACGGTGGGCTGA	0.687																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(16-18)caC>caT		deltex homolog 1 (Drosophila)		C		0,4398		0,0,2199	36.0	30.0	32.0		18	-1.5	0.9	12		32	1,8595		0,1,4297	no	coding-synonymous	DTX1	NM_004416.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		6/621	113496015	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496015C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.18C>T	12.37:g.113496015C>T							p.H6H	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	521	+			6					O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.18C>T	CCDS9164.1																																																																																				0.687	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			34	113	0	0	0	1	0	34	113				
RTN3	10313	broad.mit.edu	37	11	63487781	63487781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487781C>T	ENST00000377819.5	+	3	1961	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	603					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCTGAAAAGCCTATTACTAC	0.403																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1807-1809)Cct>Tct		reticulon 3							105.0	111.0	109.0					11																	63487781		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487781C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1807C>T	11.37:g.63487781C>T	ENSP00000367050:p.Pro603Ser					RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S	p.P603S	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1961	+			603					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1807C>T	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389613	0.25118	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.22336	1.97;1.97;1.96	5.77	3.86	0.44501	.	2.195500	0.01661	N	0.025135	T	0.14184	0.0343	N	0.14661	0.345	0.19775	N	0.99995	B;B;B	0.32753	0.383;0.264;0.383	B;B;B	0.26094	0.066;0.03;0.066	T	0.17258	-1.0375	10	0.30078	T	0.28	-1.5901	8.5939	0.33703	0.0:0.7584:0.1569:0.0846	.	491;603;584	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	S	603;584;491	ENSP00000367050:P603S;ENSP00000344106:P584S;ENSP00000442733:P491S	ENSP00000344106:P584S	P	+	1	0	RTN3	63244357	0.000000	0.05858	0.295000	0.24960	0.138000	0.21146	0.426000	0.21363	1.549000	0.49425	0.655000	0.94253	CCT		0.403	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		88	428	0	0	0	1	0	88	428				
IQGAP2	10788	broad.mit.edu	37	5	75932970	75932970	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75932970A>C	ENST00000274364.6	+	16	2189	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T	IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	631					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGCTTGTATAAAGAATCATGG	0.373																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1891-1893)aAa>aCa		IQ motif containing GTPase activating protein 2							104.0	102.0	103.0					5																	75932970		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75932970A>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1892A>C	5.37:g.75932970A>C	ENSP00000274364:p.Lys631Thr					IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T	p.K631T	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	16	2189	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	631					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.1892A>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455648	0.26161	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.72	5.72	0.89469	.	0.271796	0.42053	D	0.000765	T	0.56978	0.2022	M	0.71581	2.175	0.24087	N	0.995924	P;B;P;B	0.37914	0.611;0.141;0.611;0.141	B;B;B;B	0.38842	0.283;0.108;0.283;0.065	T	0.54925	-0.8220	10	0.27082	T	0.32	-22.9968	12.3878	0.55343	1.0:0.0:0.0:0.0	.	190;581;184;631	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	T	631;190;604;581;184;184;184;184	ENSP00000274364:K631T;ENSP00000442313:K190T;ENSP00000423672:K604T;ENSP00000421097:K581T;ENSP00000422661:K184T;ENSP00000379535:K184T;ENSP00000426027:K184T	ENSP00000274364:K631T	K	+	2	0	IQGAP2	75968726	1.000000	0.71417	0.228000	0.23943	0.142000	0.21351	4.922000	0.63404	2.186000	0.69663	0.477000	0.44152	AAA		0.373	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		104	379	0	0	0	1	0	104	379				
BAI2	576	broad.mit.edu	37	1	32196611	32196611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32196611G>A	ENST00000373658.3	-	29	4511	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A	BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000398538.1_Silent_p.A1378A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000373655.2_Silent_p.A1390A|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1390					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTTCAGTGTGGGCCACTGTCT	0.677																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(4168-4170)gcC>gcT		brain-specific angiogenesis inhibitor 2							18.0	24.0	22.0					1																	32196611		2200	4300	6500	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196611G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4170C>T	1.37:g.32196611G>A						BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000373655.2_Silent_p.A1390A|BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000398538.1_Silent_p.A1378A	p.A1390A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4511	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1390					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.4170C>T	CCDS346.2																																																																																				0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		24	162	0	0	0	1	0	24	162				
WNT6	7475	broad.mit.edu	37	2	219738522	219738522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219738522G>A	ENST00000233948.3	+	4	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	351					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGTACAGTGCCACCGCT	0.697																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(1051-1053)caG>caA		wingless-type MMTV integration site family, member 6							13.0	10.0	11.0					2																	219738522		2130	4176	6306	SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219738522G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.1053G>A	2.37:g.219738522G>A							p.Q351Q	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1270	+		Renal(207;0.0474)	351					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.1053G>A	CCDS2425.1																																																																																				0.697	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		16	69	0	0	0	1	0	16	69				
KMT2D	8085	broad.mit.edu	37	12	49427246	49427246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49427246G>T	ENST00000301067.7	-	39	11241	c.11242C>A	c.(11242-11244)Cta>Ata	p.L3748I	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3748	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCTGTCCTAGAAGGtgctgc	0.592																																						ENST00000301067.7																			0											c.(11242-11244)Cta>Ata		lysine (K)-specific methyltransferase 2D							15.0	18.0	17.0					12																	49427246		2195	4294	6489	SO:0001583	missense	8085							g.chr12:49427246G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11242C>A	12.37:g.49427246G>T	ENSP00000301067:p.Leu3748Ile						p.L3748I	NM_003482.3	NP_003473.3					39	11241	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.11242C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	2.864	-0.235574	0.05944	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	5.11	1.11	0.20524	.	0.000000	0.26895	N	0.021956	T	0.51126	0.1656	N	0.08118	0	0.19775	N	0.999956	P	0.39551	0.678	B	0.33690	0.168	T	0.51012	-0.8759	10	0.87932	D	0	.	5.7073	0.17915	0.3226:0.0:0.5478:0.1296	.	3748	O14686	MLL2_HUMAN	I	3748	ENSP00000301067:L3748I	ENSP00000301067:L3748I	L	-	1	2	MLL2	47713513	0.989000	0.36119	0.992000	0.48379	0.380000	0.30137	1.554000	0.36266	0.263000	0.21812	0.462000	0.41574	CTA		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			16	80	1	0	6.31663e-08	1	6.57865e-08	16	80				
GPRASP2	114928	broad.mit.edu	37	X	101969867	101969867	+	Missense_Mutation	SNP	G	G	A	rs374391200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101969867G>A	ENST00000535209.1	+	4	901	c.70G>A	c.(70-72)Gct>Act	p.A24T	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A24T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	24						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGAGGTTATCGCTGGGCCTGA	0.522																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(70-72)Gct>Act		G protein-coupled receptor associated sorting protein 2		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3834		0,1,1631,571	114.0	108.0	110.0		70,70,70,70,70,70	-1.4	0.0	X		110	0,6728		0,0,2428,1872	no	missense,missense,missense,missense,missense,missense	GPRASP2,ARMCX5-GPRASP2	NM_001004051.3,NM_001184874.2,NM_001184875.2,NM_001184876.2,NM_001199818.1,NM_138437.5	58,58,58,58,58,58	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign	24/839,24/839,24/839,24/839,24/839,24/839	101969867	1,10562	2203	4300	6503	SO:0001583	missense	114928							g.chrX:101969867G>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.70G>A	X.37:g.101969867G>A	ENSP00000437394:p.Ala24Thr					GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A24T	p.A24T	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	989	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.70G>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	2.792	-0.251175	0.05867	2.61E-4	0.0	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07021	3.23;3.23;3.23	2.95	-1.43	0.08884	.	1.467860	0.04411	N	0.366081	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40869	-0.9540	10	0.21014	T	0.42	.	3.8041	0.08770	0.3948:0.1847:0.4205:0.0	.	24	Q96D09	GASP2_HUMAN	T	24	ENSP00000437872:A24T;ENSP00000437394:A24T;ENSP00000339057:A24T	ENSP00000339057:A24T	A	+	1	0	GPRASP2	101856523	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.639000	0.24690	-0.757000	0.04697	-0.478000	0.04885	GCT		0.522	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		156	483	0	0	0	1	0	156	483				
MADD	8567	broad.mit.edu	37	11	47296342	47296342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296342C>A	ENST00000311027.5	+	3	456	c.291C>A	c.(289-291)ttC>ttA	p.F97L	MADD_ENST00000406482.1_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|MADD_ENST00000395344.3_Missense_Mutation_p.F97L|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000342922.4_Missense_Mutation_p.F97L|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L|RP11-17G12.3_ENST00000545474.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGTTAACTTCTACCGCTCCT	0.562																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(289-291)ttC>ttA		MAP-kinase activating death domain							73.0	73.0	73.0					11																	47296342		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296342C>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.291C>A	11.37:g.47296342C>A	ENSP00000310933:p.Phe97Leu					MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000311027.5_Missense_Mutation_p.F97L|MADD_ENST00000395344.3_Missense_Mutation_p.F97L|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000406482.1_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L	p.F97L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	648	+			97			UDENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.291C>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219854	0.95139	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	6.17	0.99709	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.88450	2.955	0.80722	D	1	D;P;P;D;D;D;D;D;D;D	0.69078	0.966;0.898;0.925;0.987;0.987;0.987;0.993;0.996;0.993;0.997	P;P;P;P;P;P;D;D;D;D	0.81914	0.779;0.823;0.804;0.891;0.891;0.891;0.98;0.99;0.962;0.995	T	0.77115	-0.2707	9	.	.	.	-20.1197	20.8794	0.99867	0.0:1.0:0.0:0.0	.	97;97;97;97;97;97;97;97;97;97	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	97	ENSP00000343902:F97L;ENSP00000385585:F97L;ENSP00000384435:F97L;ENSP00000304505:F97L;ENSP00000310933:F97L;ENSP00000384204:F97L;ENSP00000378753:F97L;ENSP00000413116:F97L;ENSP00000378745:F97L;ENSP00000384287:F97L;ENSP00000402364:F97L	.	F	+	3	2	MADD	47252918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.666000	0.54540	2.941000	0.99782	0.655000	0.94253	TTC		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			116	415	1	0	7.59108e-50	1	9.39492e-50	116	415				
ADNP	23394	broad.mit.edu	37	20	49510697	49510697	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49510697T>C	ENST00000396029.3	-	5	1121	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C|ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C|ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	185					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATGTTCCCTGTAAATGTGCTT	0.448																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(553-555)tAc>tGc		activity-dependent neuroprotector homeobox							168.0	160.0	163.0					20																	49510697		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510697T>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.554A>G	20.37:g.49510697T>C	ENSP00000379346:p.Tyr185Cys					ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C|ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C|ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C	p.Y185C	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	1121	-			185					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.554A>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.267821	0.59540	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	L	0.60455	1.87	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.81885	-0.0727	10	0.49607	T	0.09	-3.5076	16.6438	0.85155	0.0:0.0:0.0:1.0	.	185	Q9H2P0	ADNP_HUMAN	C	185	ENSP00000360662:Y185C;ENSP00000342905:Y185C;ENSP00000379346:Y185C;ENSP00000379349:Y185C	ENSP00000342905:Y185C	Y	-	2	0	ADNP	48944104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.333000	0.79357	0.533000	0.62120	TAC		0.448	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		146	602	0	0	0	1	0	146	602				
DNAH5	1767	broad.mit.edu	37	5	13762877	13762877	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13762877G>T	ENST00000265104.4	-	60	10339	c.10235C>A	c.(10234-10236)gCt>gAt	p.A3412D	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3412	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAGCCATAGCTTTCGTCCA	0.458									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10234-10236)gCt>gAt		dynein, axonemal, heavy chain 5							84.0	82.0	83.0					5																	13762877		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13762877G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10235C>A	5.37:g.13762877G>T	ENSP00000265104:p.Ala3412Asp					DNAH5_ENST00000504001.3_5'UTR	p.A3412D	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			60	10339	-	Lung NSC(4;0.00476)		3412			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10235C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411584	0.83340	.	.	ENSG00000039139	ENST00000265104	T	0.74106	-0.81	5.32	5.32	0.75619	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94723	0.7902	10	0.72032	D	0.01	.	18.9925	0.92798	0.0:0.0:1.0:0.0	.	3412	Q8TE73	DYH5_HUMAN	D	3412	ENSP00000265104:A3412D	ENSP00000265104:A3412D	A	-	2	0	DNAH5	13815877	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	9.807000	0.99171	2.494000	0.84150	0.313000	0.20887	GCT		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		12	314	1	0	0.0167234	1	0.0167961	12	314				
SEMA4A	64218	broad.mit.edu	37	1	156130351	156130351	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156130351G>A	ENST00000368285.3	+	7	952		c.e7+1		SEMA4A_ENST00000368282.1_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCTGCATCGTAAGGACCTG	0.537																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.e7+1		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							107.0	79.0	88.0					1																	156130351		2203	4300	6503	SO:0001630	splice_region_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156130351G>A	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.685+1G>A	1.37:g.156130351G>A						SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site		NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			7	952	+	Hepatocellular(266;0.158)							B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Splice_Site	SNP	ENST00000368285.3	37		CCDS1132.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.519794	0.85495	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.099	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA4A	154396975	1.000000	0.71417	0.958000	0.39756	0.971000	0.66376	8.819000	0.91997	2.619000	0.88677	0.467000	0.42956	.		0.537	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	Intron	41	190	0	0	0	1	0	41	190				
SNHG14	104472715	broad.mit.edu	37	15	25321120	25321120	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25321120C>T	ENST00000549804.2	+	0	1109				SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-10_ENST00000363791.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GAAAGTTGAACAAAATGAGTG	0.433																																						ENST00000549804.2																			0																				112.0	101.0	104.0					15																	25321120		876	1991	2867			0							g.chr15:25321120C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25321120C>T						SNORD116-11_ENST00000383882.1_RNA								0	1109	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.433	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			39	286	0	0	0	1	0	39	286				
TUBB2B	347733	broad.mit.edu	37	6	3227752	3227752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3227752G>A	ENST00000259818.7	-	1	217	c.26C>T	c.(25-27)gCg>gTg	p.A9V	TUBB2B_ENST00000473006.1_Intron	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	9					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCACTGGCCCGCCTGGATGTG	0.726																																						ENST00000259818.7																			0				kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(25-27)gCg>gTg		tubulin, beta 2B class IIb							44.0	44.0	44.0					6																	3227752		2201	4299	6500	SO:0001583	missense	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3227752G>A	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.26C>T	6.37:g.3227752G>A	ENSP00000259818:p.Ala9Val					TUBB2B_ENST00000473006.1_Intron	p.A9V	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN			1	217	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	9					A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	c.26C>T	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806186	0.70682	.	.	ENSG00000137285	ENST00000259818	T	0.61158	0.13	4.34	4.34	0.51931	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000023	T	0.22704	0.0548	N	0.02973	-0.45	0.80722	D	1	B;B	0.23806	0.091;0.057	B;B	0.21151	0.033;0.018	T	0.25117	-1.0141	10	0.87932	D	0	.	17.4008	0.87459	0.0:0.0:1.0:0.0	.	9;9	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	V	9	ENSP00000259818:A9V	ENSP00000259818:A9V	A	-	2	0	TUBB2B	3172751	1.000000	0.71417	0.953000	0.39169	0.884000	0.51177	3.777000	0.55364	2.403000	0.81681	0.561000	0.74099	GCG		0.726	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		45	216	0	0	0	1	0	45	216				
THAP4	51078	broad.mit.edu	37	2	242572459	242572459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572459G>A	ENST00000407315.1	-	2	1544	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	371							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCTTCAGCTCGCCGTTCTTCT	0.617																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(1111-1113)ggC>ggT		THAP domain containing 4							44.0	45.0	45.0					2																	242572459		2203	4296	6499	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242572459G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1113C>T	2.37:g.242572459G>A							p.G371G	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1544	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	371					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.1113C>T	CCDS2551.1																																																																																				0.617	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		40	164	0	0	0	1	0	40	164				
MAGEC1	9947	broad.mit.edu	37	X	140996169	140996169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140996169C>T	ENST00000285879.4	+	4	3265	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	MAGEC1_ENST00000406005.2_Silent_p.G60G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	993	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGCAGGGCATGTCCCAGA	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2977-2979)ggC>ggT		melanoma antigen family C, 1							104.0	96.0	99.0					X																	140996169		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996169C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2979C>T	X.37:g.140996169C>T		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.G60G	p.G993G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3265	+	Acute lymphoblastic leukemia(192;6.56e-05)		993			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2979C>T	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		140	540	0	0	0	1	0	140	540				
XKR3	150165	broad.mit.edu	37	22	17280674	17280674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17280674C>T	ENST00000331428.5	-	3	678	c.576G>A	c.(574-576)tgG>tgA	p.W192*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TATTCAAAGGCCATTCTCGTA	0.348																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(574-576)tgG>tgA		XK, Kell blood group complex subunit-related family, member 3							154.0	146.0	148.0					22																	17280674		1857	4098	5955	SO:0001587	stop_gained	150165					integral to membrane|plasma membrane		g.chr22:17280674C>T	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.576G>A	22.37:g.17280674C>T	ENSP00000331704:p.Trp192*						p.W192*	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			3	678	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	192					B2RPN1|Q52PG8|Q8N7E1	Nonsense_Mutation	SNP	ENST00000331428.5	37	c.576G>A	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271058	0.40194	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.762	0.762	0.18454	.	1.328570	0.06032	U	0.653304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.9778	0.09481	0.4122:0.5877:0.0:0.0	.	.	.	.	X	192	.	ENSP00000331704:W192X	W	-	3	0	XKR3	15660674	0.155000	0.22806	0.040000	0.18447	0.013000	0.08279	-0.245000	0.08890	0.752000	0.32923	0.289000	0.19496	TGG		0.348	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		102	589	0	0	0	1	0	102	589				
DIP2C	22982	broad.mit.edu	37	10	395299	395299	+	Silent	SNP	G	G	A	rs568456386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395299G>A	ENST00000280886.6	-	25	3168	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1027						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCACGTGGTCGCCGTCCTGAA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17541	0.0		0.001	False		,,,				2504	0.0					ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3079-3081)ggC>ggT		DIP2 disco-interacting protein 2 homolog C (Drosophila)							95.0	69.0	78.0					10																	395299		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:395299G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3081C>T	10.37:g.395299G>A							p.G1027G	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	25	3168	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1027					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.3081C>T	CCDS7054.1																																																																																				0.647	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		15	229	0	0	0	1	0	15	229				
OLFML2A	169611	broad.mit.edu	37	9	127572492	127572492	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572492C>A	ENST00000373580.3	+	8	1760	c.1760C>A	c.(1759-1761)gCc>gAc	p.A587D	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	587	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATCCTGTATGCCGTGGACACG	0.657																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1759-1761)gCc>gAc		olfactomedin-like 2A							111.0	96.0	101.0					9																	127572492		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572492C>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1760C>A	9.37:g.127572492C>A	ENSP00000362682:p.Ala587Asp					OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	p.A587D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1760	+			587			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1760C>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	31	5.059241	0.93846	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.90563	1.27;-2.69	5.52	5.52	0.82312	Olfactomedin-like (3);	0.057190	0.64402	D	0.000001	D	0.96172	0.8752	M	0.91510	3.215	0.80722	D	1	D;D	0.56968	0.974;0.978	D;D	0.65233	0.915;0.933	D	0.96831	0.9611	10	0.87932	D	0	.	18.0092	0.89218	0.0:1.0:0.0:0.0	.	373;587	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	D	279;587;373	ENSP00000362682:A587D;ENSP00000288815:A373D	ENSP00000288815:A373D	A	+	2	0	OLFML2A	126612313	1.000000	0.71417	0.955000	0.39395	0.823000	0.46562	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GCC		0.657	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		70	334	1	0	6.00099e-30	1	7.02477e-30	70	334				
DACH2	117154	broad.mit.edu	37	X	85969592	85969592	+	Missense_Mutation	SNP	C	C	A	rs267606524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85969592C>A	ENST00000373125.4	+	6	973	c.973C>A	c.(973-975)Cca>Aca	p.P325T	DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|DACH2_ENST00000510272.1_Missense_Mutation_p.P106T|DACH2_ENST00000373131.1_Missense_Mutation_p.P312T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	325					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCCCCTACTTCCAGTCAGCTT	0.413																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(934-936)Cca>Aca		dachshund homolog 2 (Drosophila)							193.0	158.0	170.0					X																	85969592		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969592C>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.973C>A	X.37:g.85969592C>A	ENSP00000362217:p.Pro325Thr					DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|DACH2_ENST00000373125.4_Missense_Mutation_p.P325T|DACH2_ENST00000510272.1_Missense_Mutation_p.P106T	p.P312T	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			5	1097	+			325					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.934C>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212561	0.79240	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.85171	-1.94;-1.95	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	D	0.91314	0.7261	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.981;0.982;0.999;0.999	D	0.92218	0.5782	10	0.66056	D	0.02	.	17.5775	0.87955	0.0:1.0:0.0:0.0	.	191;325;312;325	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	T	325;312;325;158;106;158	ENSP00000362223:P312T;ENSP00000362217:P325T	ENSP00000345134:P325T	P	+	1	0	DACH2	85856248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.079000	0.62486	0.513000	0.50165	CCA		0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		166	551	1	0	2.95651e-86	1	3.79019e-86	166	551				
DCUN1D3	123879	broad.mit.edu	37	16	20871273	20871273	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20871273C>T	ENST00000324344.4	-	3	1135	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	284					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCTTCCCCTTCTCTTTTCCTT	0.567																																						ENST00000324344.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14						c.(850-852)Gaa>Aaa		DCN1, defective in cullin neddylation 1, domain containing 3							72.0	64.0	67.0					16																	20871273		2201	4300	6501	SO:0001583	missense	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871273C>T	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.850G>A	16.37:g.20871273C>T	ENSP00000319482:p.Glu284Lys					DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K|ERI2_ENST00000564349.1_Intron	p.E284K	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	1135	-			284					B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	c.850G>A	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153360	0.57259	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	.	0.134496	0.64402	D	0.000003	T	0.51736	0.1692	L	0.34521	1.04	0.53688	D	0.999974	B	0.02656	0.0	B	0.04013	0.001	T	0.51196	-0.8736	9	0.06494	T	0.89	-27.7325	20.6634	0.99662	0.0:1.0:0.0:0.0	.	284	Q8IWE4	DCNL3_HUMAN	K	284	.	ENSP00000319482:E284K	E	-	1	0	DCUN1D3	20778774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.324000	0.65863	2.894000	0.99253	0.655000	0.94253	GAA		0.567	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		23	189	0	0	0	1	0	23	189				
MTMR2	8898	broad.mit.edu	37	11	95582947	95582947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95582947C>T	ENST00000346299.5	-	9	1224	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	MTMR2_ENST00000393223.3_Missense_Mutation_p.R223Q|MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	295	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGCTTCGCTTTCCACT	0.413																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(667-669)cGa>cAa		myotubularin related protein 2							174.0	157.0	163.0					11																	95582947		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95582947C>T	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.884G>A	11.37:g.95582947C>T	ENSP00000345752:p.Arg295Gln					MTMR2_ENST00000346299.5_Missense_Mutation_p.R295Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q	p.R223Q	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			11	1330	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	295			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.668G>A	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121352	0.94385	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.17	4.26	0.50523	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	H	0.97023	3.925	0.80722	D	1	P;P	0.52577	0.954;0.954	B;P	0.47206	0.436;0.541	D	0.97125	0.9814	10	0.87932	D	0	.	13.854	0.63515	0.0:0.9256:0.0:0.0744	.	295;295	A8K5G2;Q13614	.;MTMR2_HUMAN	Q	295;223;223;223;223;278	ENSP00000345752:R295Q;ENSP00000376915:R223Q;ENSP00000386882:R223Q;ENSP00000343737:R223Q;ENSP00000396020:R223Q	ENSP00000345752:R295Q	R	-	2	0	MTMR2	95222595	0.998000	0.40836	0.892000	0.35008	0.982000	0.71751	7.755000	0.85180	1.169000	0.42739	0.591000	0.81541	CGA		0.413	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		20	614	0	0	0	1	0	20	614				
LRP1B	53353	broad.mit.edu	37	2	141533752	141533752	+	Missense_Mutation	SNP	T	T	G	rs375834878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141533752T>G	ENST00000389484.3	-	33	6386	c.5415A>C	c.(5413-5415)aaA>aaC	p.K1805N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1805					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCGTCTCTTTTGCTGCAGG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5413-5415)aaA>aaC		low density lipoprotein receptor-related protein 1B							126.0	122.0	123.0					2																	141533752		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533752T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5415A>C	2.37:g.141533752T>G	ENSP00000374135:p.Lys1805Asn	TSP Lung(27;0.18)					p.K1805N	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	33	6386	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1805					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5415A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532527	0.64972	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91843	-2.92	5.69	4.54	0.55810	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.94101	3.495	0.46096	D	0.998861	D	0.76494	0.999	D	0.80764	0.994	D	0.96344	0.9253	10	0.56958	D	0.05	.	11.3858	0.49785	0.0:0.0704:0.0:0.9296	.	1805	Q9NZR2	LRP1B_HUMAN	N	1805;1743	ENSP00000374135:K1805N	ENSP00000374135:K1805N	K	-	3	2	LRP1B	141250222	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.091000	0.41691	1.010000	0.39314	0.482000	0.46254	AAA		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		31	351	0	0	0	1	0	31	351				
PDIA3	2923	broad.mit.edu	37	15	44062493	44062493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44062493G>A	ENST00000300289.5	+	11	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	ELL3_ENST00000497465.1_5'Flank|PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	438	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGATGCCACAGCCAATGATGT	0.398																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(1312-1314)Gcc>Acc		protein disulfide isomerase family A, member 3							76.0	68.0	70.0					15																	44062493		2198	4298	6496	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44062493G>A		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1312G>A	15.37:g.44062493G>A	ENSP00000300289:p.Ala438Thr					PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T	p.A438T	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	11	1460	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	438			Thioredoxin 2.		Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.1312G>A	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477466	0.96291	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.23147	1.92;1.92	6.04	6.04	0.98038	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.089021	0.85682	D	0.000000	T	0.51278	0.1665	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	T	0.43940	-0.9360	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	418;438	G5EA52;P30101	.;PDIA3_HUMAN	T	438;413;212;418	ENSP00000300289:A438T;ENSP00000438260:A418T	ENSP00000300289:A438T	A	+	1	0	PDIA3	41849785	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GCC		0.398	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		50	227	0	0	0	1	0	50	227				
NPFF	8620	broad.mit.edu	37	12	53899866	53899866	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53899866G>A	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Silent_p.E324E|TARBP2_ENST00000266987.2_Silent_p.E345E|TARBP2_ENST00000394357.2_Silent_p.E324E|TARBP2_ENST00000552857.1_3'UTR	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CCACCAGGGAGGCAGCCCGTG	0.632																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(1033-1035)gaG>gaA		TAR (HIV-1) RNA binding protein 2							41.0	39.0	39.0					12																	53899866		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53899866G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53899866G>A						TARBP2_ENST00000456234.2_Silent_p.E324E|TARBP2_ENST00000552857.1_3'UTR|TARBP2_ENST00000394357.2_Silent_p.E324E	p.E345E	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			9	1518	+			345			DRBM 3.|Sufficient for interaction with DICER1.|Sufficient for interaction with PRKRA.		Q3SXL4	Silent	SNP	ENST00000267017.3	37	c.1035G>A	CCDS8862.1																																																																																				0.632	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		49	246	0	0	0	1	0	49	246				
NTM	50863	broad.mit.edu	37	11	132177654	132177654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132177654G>A	ENST00000374786.1	+	4	1077	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NTM_ENST00000427481.2_Missense_Mutation_p.E191K|NTM_ENST00000374784.1_Missense_Mutation_p.E200K|NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	200	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGGGACTACGAGTGCAGTGC	0.567																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(598-600)Gag>Aag		neurotrimin							96.0	84.0	88.0					11																	132177654		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177654G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.598G>A	11.37:g.132177654G>A	ENSP00000363918:p.Glu200Lys					NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000427481.2_Missense_Mutation_p.E191K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000374784.1_Missense_Mutation_p.E200K	p.E200K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1077	+			200			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.598G>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	37	6.109459	0.97291	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67345	1.68;1.68;-0.26;1.68;1.68;1.68;1.68	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042817	0.85682	D	0.000000	T	0.80793	0.4691	M	0.66378	2.025	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	0.91635	0.987;0.999;0.993;0.999;0.987;0.995	T	0.74200	-0.3742	10	0.22109	T	0.4	-30.012	20.3754	0.98918	0.0:0.0:1.0:0.0	.	200;191;200;200;200;200	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	200;200;191;191;200;200;200	ENSP00000363923:E200K;ENSP00000437668:E200K;ENSP00000448104:E191K;ENSP00000416320:E191K;ENSP00000363918:E200K;ENSP00000396722:E200K;ENSP00000363916:E200K	ENSP00000363916:E200K	E	+	1	0	NTM	131682864	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	9.420000	0.97426	2.894000	0.99253	0.591000	0.81541	GAG		0.567	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		52	218	0	0	0	1	0	52	218				
CCDC18	343099	broad.mit.edu	37	1	93701841	93701841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93701841G>A	ENST00000343253.7	+	19	2996	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000421014.2_Intron			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	832										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAACAAAGGGAAAGTTCAGC	0.328																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2494-2496)Gaa>Aaa		coiled-coil domain containing 18							90.0	83.0	85.0					1																	93701841		1833	4083	5916	SO:0001583	missense	343099							g.chr1:93701841G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2494G>A	1.37:g.93701841G>A	ENSP00000343377:p.Glu832Lys					CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000421014.2_Intron	p.E832K			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	19	2996	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	832					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2494G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469612	0.84533	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	T	0.69435	-0.4	4.57	4.57	0.56435	.	0.272209	0.34386	N	0.004008	T	0.58163	0.2103	N	0.22421	0.69	0.36801	D	0.885378	P;D	0.61697	0.939;0.99	P;P	0.57911	0.503;0.829	T	0.60146	-0.7320	10	0.36615	T	0.2	.	16.4239	0.83808	0.0:0.0:1.0:0.0	.	832;951	Q5T9S5;G3V388	CCD18_HUMAN;.	K	832;833;951;588;128;508	ENSP00000334084:E128K	ENSP00000334084:E128K	E	+	1	0	CCDC18	93474429	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.191000	0.72063	2.485000	0.83878	0.650000	0.86243	GAA		0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		29	231	0	0	0	1	0	29	231				
NOC3L	64318	broad.mit.edu	37	10	96117060	96117060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96117060G>A	ENST00000371361.3	-	4	479	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	127					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATGCGTTCATGCTTCCGTTTC	0.348																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(379-381)Cat>Tat		nucleolar complex associated 3 homolog (S. cerevisiae)							97.0	89.0	91.0					10																	96117060		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96117060G>A	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.379C>T	10.37:g.96117060G>A	ENSP00000360412:p.His127Tyr					NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y|NOC3L_ENST00000463649.1_5'UTR	p.H127Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			4	479	-		Colorectal(252;0.0897)	127					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.379C>T	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064960	0.01934	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.11821	2.74;2.74	5.16	0.841	0.18918	.	0.807371	0.12019	N	0.507107	T	0.06826	0.0174	N	0.08118	0	0.21627	N	0.999615	B	0.19935	0.04	B	0.34779	0.189	T	0.48937	-0.8990	10	0.07813	T	0.8	-9.2634	6.2289	0.20724	0.1392:0.0:0.5021:0.3587	.	127	Q8WTT2	NOC3L_HUMAN	Y	127	ENSP00000360412:H127Y;ENSP00000360401:H127Y	ENSP00000360401:H127Y	H	-	1	0	NOC3L	96107050	0.975000	0.34042	0.895000	0.35142	0.422000	0.31414	1.859000	0.39418	0.260000	0.21731	0.655000	0.94253	CAT		0.348	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		58	195	0	0	0	1	0	58	195				
NKX2-2	4821	broad.mit.edu	37	20	21492786	21492786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21492786C>T	ENST00000377142.4	-	2	953	c.597G>A	c.(595-597)tcG>tcA	p.S199S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	199					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCCGGCGCGGCGAGGGCAGGG	0.672																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(595-597)tcG>tcA		NK2 homeobox 2							32.0	36.0	35.0					20																	21492786		2202	4299	6501	SO:0001819	synonymous_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492786C>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.597G>A	20.37:g.21492786C>T						NKX2-2-AS1_ENST00000549659.1_RNA	p.S199S	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	953	-			199						Silent	SNP	ENST00000377142.4	37	c.597G>A	CCDS13145.1																																																																																				0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			30	250	0	0	0	1	0	30	250				
LSM14A	26065	broad.mit.edu	37	19	34710699	34710699	+	Silent	SNP	C	C	T	rs201997010		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710699C>T	ENST00000433627.5	+	8	1128	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	LSM14A_ENST00000540746.2_Silent_p.A310A|LSM14A_ENST00000544216.3_Silent_p.A351A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	351					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAAATGCCGATGAAGAAG	0.353																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(1051-1053)gcC>gcT		LSM14A, SCD6 homolog A (S. cerevisiae)							86.0	81.0	83.0					19																	34710699		2203	4300	6503	SO:0001819	synonymous_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710699C>T	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1053C>T	19.37:g.34710699C>T						LSM14A_ENST00000540746.2_Silent_p.A310A|LSM14A_ENST00000433627.5_Silent_p.A351A	p.A351A	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			8	1130	+	Esophageal squamous(110;0.162)		351					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	c.1053C>T	CCDS46040.1																																																																																				0.353	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		36	138	0	0	0	1	0	36	138				
SPIN1	10927	broad.mit.edu	37	9	91083296	91083296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91083296G>A	ENST00000375859.3	+	5	643	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	122					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCGACATCTCGAATCAGCGAT	0.413																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(364-366)cGa>cAa		spindlin 1							109.0	103.0	105.0					9																	91083296		2166	4279	6445	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91083296G>A	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.365G>A	9.37:g.91083296G>A	ENSP00000365019:p.Arg122Gln					SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q|SPIN1_ENST00000469017.2_3'UTR	p.R122Q	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			5	643	+			122					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.365G>A	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769194	0.15983	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.39787	1.06;1.06	5.12	2.26	0.28386	.	0.241703	0.34411	N	0.003998	T	0.16811	0.0404	N	0.12920	0.275	0.58432	D	0.999997	D	0.55800	0.973	B	0.38683	0.279	T	0.32455	-0.9906	10	0.02654	T	1	-4.6556	7.4168	0.27048	0.1432:0.0:0.72:0.1368	.	122	Q9Y657	SPIN1_HUMAN	Q	122	ENSP00000365019:R122Q;ENSP00000441864:R122Q	ENSP00000365019:R122Q	R	+	2	0	SPIN1	90273116	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	7.326000	0.79133	0.318000	0.23185	-0.136000	0.14681	CGA		0.413	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		36	178	0	0	0	1	0	36	178				
FAM179A	165186	broad.mit.edu	37	2	29259479	29259479	+	Missense_Mutation	SNP	G	G	A	rs535137926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29259479G>A	ENST00000379558.4	+	18	2842	c.2491G>A	c.(2491-2493)Gcc>Acc	p.A831T	FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	831										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGTCCTTCGCCAAGATGAT	0.498													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19733	0.0		0.0	False		,,,				2504	0.0					ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2491-2493)Gcc>Acc		family with sequence similarity 179, member A							125.0	105.0	111.0					2																	29259479		2203	4300	6503	SO:0001583	missense	165186						binding	g.chr2:29259479G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2491G>A	2.37:g.29259479G>A	ENSP00000368876:p.Ala831Thr					FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T	p.A831T	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			18	2842	+			831					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2491G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	g	6.373	0.436969	0.12104	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14144	2.53;2.53	6.04	1.22	0.21188	Armadillo-like helical (1);Armadillo-type fold (1);	0.266535	0.32802	N	0.005625	T	0.08044	0.0201	L	0.50333	1.59	0.09310	N	1	B;B;P	0.36249	0.179;0.034;0.545	B;B;B	0.22386	0.024;0.003;0.039	T	0.34403	-0.9830	10	0.13853	T	0.58	.	6.7617	0.23544	0.1701:0.0:0.6081:0.2218	.	776;831;129	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	T	831;776	ENSP00000368876:A831T;ENSP00000384699:A776T	ENSP00000368876:A831T	A	+	1	0	FAM179A	29112983	0.000000	0.05858	0.439000	0.26833	0.203000	0.24098	0.488000	0.22371	0.461000	0.27071	-0.217000	0.12591	GCC		0.498	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		89	231	0	0	0	1	0	89	231				
PRDM9	56979	broad.mit.edu	37	5	23522454	23522454	+	Nonsense_Mutation	SNP	C	C	T	rs181064967	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522454C>T	ENST00000296682.3	+	7	732	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTATAGCCTGCGAGAAAGAAA	0.458										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(550-552)Cga>Tga		PR domain containing 9							163.0	168.0	166.0					5																	23522454		1932	4156	6088	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522454C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.550C>T	5.37:g.23522454C>T	ENSP00000296682:p.Arg184*	HNSCC(3;0.000094)					p.R184*	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			7	732	+			184					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.550C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532190	0.64972	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.63	-6.01	0.02199	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7103	13.4028	0.60893	0.8164:0.1836:0.0:0.0	.	.	.	.	X	184	.	ENSP00000296682:R184X	R	+	1	2	PRDM9	23558211	0.469000	0.25846	0.005000	0.12908	0.006000	0.05464	-0.309000	0.08145	-0.881000	0.03992	-1.580000	0.00857	CGA		0.458	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		125	671	0	0	0	1	0	125	671				
STRN4	29888	broad.mit.edu	37	19	47228870	47228870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228870C>T	ENST00000263280.6	-	10	1333	c.1284G>A	c.(1282-1284)tgG>tgA	p.W428*	STRN4_ENST00000391910.3_Nonsense_Mutation_p.W435*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*|STRN4_ENST00000594357.2_5'UTR|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	428						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACTTGGGGTTCCACGTCTTCT	0.607																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1303-1305)tgG>tgA		striatin, calmodulin binding protein 4							109.0	108.0	109.0					19																	47228870		2203	4300	6503	SO:0001587	stop_gained	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228870C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1284G>A	19.37:g.47228870C>T	ENSP00000263280:p.Trp428*					STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Nonsense_Mutation_p.W428*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*	p.W435*			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1755	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	428					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Nonsense_Mutation	SNP	ENST00000263280.6	37	c.1305G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435333	0.96150	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0279	16.8978	0.86105	0.0:1.0:0.0:0.0	.	.	.	.	X	435;428;309	.	ENSP00000263280:W428X	W	-	3	0	STRN4	51920710	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.537000	0.82033	2.290000	0.77057	0.561000	0.74099	TGG		0.607	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			30	211	0	0	0	1	0	30	211				
TARS2	80222	broad.mit.edu	37	1	150470161	150470161	+	Silent	SNP	C	C	T	rs374221932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150470161C>T	ENST00000369064.3	+	10	1210	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	TARS2_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000606933.1_Silent_p.D310D|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	392					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCAGAGTGACGATTCTACCA	0.547																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1174-1176)gaC>gaT		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)	C		0,4406		0,0,2203	65.0	56.0	59.0		1176	1.2	0.0	1		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TARS2	NM_025150.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		392/719	150470161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150470161C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1176C>T	1.37:g.150470161C>T						TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000606933.1_Silent_p.D310D	p.D392D	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1210	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		392					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1176C>T	CCDS952.1																																																																																				0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		6	189	0	0	0	1	0	6	189				
CSMD3	114788	broad.mit.edu	37	8	113347602	113347602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113347602T>C	ENST00000297405.5	-	45	7365	c.7121A>G	c.(7120-7122)cAc>cGc	p.H2374R	CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2374	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAATCACTGTGGAATTTGAT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7120-7122)cAc>cGc		CUB and Sushi multiple domains 3							112.0	106.0	108.0					8																	113347602		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113347602T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7121A>G	8.37:g.113347602T>C	ENSP00000297405:p.His2374Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R	p.H2374R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			45	7365	-			2374			CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7121A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755265	0.69648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.68	4.68	0.58851	CUB (5);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	N	0.20357	0.565	0.54753	D	0.999988	D;D;P	0.69078	0.997;0.996;0.627	D;D;P	0.83275	0.996;0.996;0.646	T	0.58595	-0.7609	10	0.25751	T	0.34	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	2270;2374;2334	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2334;2374;1644;2270;2304	ENSP00000345799:H2334R;ENSP00000297405:H2374R;ENSP00000341558:H1644R;ENSP00000412263:H2270R;ENSP00000343124:H2304R	ENSP00000297405:H2374R	H	-	2	0	CSMD3	113416778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.094000	0.63399	0.477000	0.44152	CAC		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		43	173	0	0	0	1	0	43	173				
TCF4	6925	broad.mit.edu	37	18	53303063	53303063	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53303063A>C	ENST00000398339.1	-	1	122	c.66T>G	c.(64-66)atT>atG	p.I22M		NM_001243226.1	NP_001230155.1	P15884	ITF2_HUMAN	transcription factor 4	0	Essential for MYOD1 inhibition. {ECO:0000250}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AATTTGTCAAAATGATGAAGA	0.418																																						ENST00000398339.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(64-66)atT>atG		transcription factor 4							10.0	8.0	8.0					18																	53303063		866	1969	2835	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:53303063A>C	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000398339.1:c.66T>G	18.37:g.53303063A>C	ENSP00000381382:p.Ile22Met						p.I22M	NM_001243226.1	NP_001230155.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	1	122	-			0			Essential for MYOD1 inhibition (By similarity).		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000398339.1	37	c.66T>G	CCDS58631.1	.	.	.	.	.	.	.	.	.	.	A	8.094	0.775199	0.16051	.	.	ENSG00000196628	ENST00000398339	T	0.33438	1.41	2.13	-2.82	0.05787	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.31392	-0.9945	8	0.87932	D	0	.	0.3337	0.00323	0.3168:0.2048:0.2773:0.2011	.	22	E9PH57	.	M	22	ENSP00000381382:I22M	ENSP00000381382:I22M	I	-	3	3	TCF4	51454061	0.935000	0.31712	0.000000	0.03702	0.116000	0.19942	0.087000	0.14958	-0.617000	0.05664	-0.672000	0.03802	ATT		0.418	TCF4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256013.1	NM_003199		4	22	0	0	0	1	0	4	22				
FBXW5	54461	broad.mit.edu	37	9	139835759	139835759	+	Silent	SNP	C	C	T	rs138768587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139835759C>T	ENST00000325285.3	-	8	1480	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	467					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGTCGTTGGGCGTGTAGGCGC	0.672																																						ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1399-1401)acG>acA		F-box and WD repeat domain containing 5							43.0	36.0	38.0					9																	139835759		2202	4299	6501	SO:0001819	synonymous_variant	54461						catalytic activity|protein binding	g.chr9:139835759C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1401G>A	9.37:g.139835759C>T						FBXW5_ENST00000483559.1_5'UTR	p.T467T	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	8	1480	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	467					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	c.1401G>A	CCDS7014.1																																																																																				0.672	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		41	214	0	0	0	1	0	41	214				
SEMA6B	10501	broad.mit.edu	37	19	4558383	4558383	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4558383C>T	ENST00000586582.1	-	2	397	c.87G>A	c.(85-87)gaG>gaA	p.E29E	SEMA6B_ENST00000586965.1_Silent_p.E29E|SEMA6B_ENST00000301293.3_Silent_p.E29E	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	29					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGGCTCCTCAGGAAAGA	0.711											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(85-87)gaG>gaA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B																																				SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4558383C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.87G>A	19.37:g.4558383C>T			OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619	SEMA6B_ENST00000586965.1_Silent_p.E29E|SEMA6B_ENST00000301293.3_Silent_p.E29E	p.E29E	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	2	397	-		Hepatocellular(1079;0.137)	29					A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.87G>A	CCDS12131.1																																																																																				0.711	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		9	32	0	0	0	1	0	9	32				
TMTC3	160418	broad.mit.edu	37	12	88566449	88566449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88566449C>T	ENST00000266712.6	+	8	1346	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	376					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGTTGCCGAGCGAGTATTATA	0.353																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1126-1128)Cga>Tga		transmembrane and tetratricopeptide repeat containing 3							124.0	120.0	122.0					12																	88566449		2203	4300	6503	SO:0001587	stop_gained	160418					integral to membrane	binding	g.chr12:88566449C>T		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1126C>T	12.37:g.88566449C>T	ENSP00000266712:p.Arg376*						p.R376*	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1346	+			376					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	ENST00000266712.6	37	c.1126C>T	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	38	6.871926	0.97901	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.54	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9127	14.6929	0.69098	0.265:0.735:0.0:0.0	.	.	.	.	X	376	.	ENSP00000266712:R376X	R	+	1	2	TMTC3	87090580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.164000	0.31810	0.656000	0.30886	0.650000	0.86243	CGA		0.353	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		83	467	0	0	0	1	0	83	467				
NADK2	133686	broad.mit.edu	37	5	36225652	36225652	+	Silent	SNP	A	A	G	rs556194146		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36225652A>G	ENST00000381937.4	-	4	551	c.552T>C	c.(550-552)gaT>gaC	p.D184D	NADK2_ENST00000506945.1_Silent_p.D21D|NADK2_ENST00000514504.1_Silent_p.D184D|NADK2_ENST00000397338.1_Silent_p.D21D|NADK2_ENST00000282512.3_Silent_p.D21D	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	184					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										ACCGTTCTGGATCAGTGTTTA	0.363																																						ENST00000397338.1																			0											c.(61-63)gaT>gaC		NAD kinase 2, mitochondrial							160.0	143.0	149.0					5																	36225652		2203	4300	6503	SO:0001819	synonymous_variant	133686							g.chr5:36225652A>G	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.552T>C	5.37:g.36225652A>G						NADK2_ENST00000506945.1_Silent_p.D21D|NADK2_ENST00000381937.4_Silent_p.D184D|NADK2_ENST00000282512.3_Silent_p.D21D|NADK2_ENST00000514504.1_Silent_p.D184D	p.D21D							4	284	-								B5MC93|Q6UTX5|Q96NM0	Silent	SNP	ENST00000381937.4	37	c.63T>C	CCDS47197.1																																																																																				0.363	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		34	452	0	0	0	1	0	34	452				
DCP1B	196513	broad.mit.edu	37	12	2055426	2055426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2055426G>A	ENST00000280665.6	-	9	1879	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DCP1B_ENST00000397173.4_Silent_p.I498I	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	600					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGCTTCATAGATTATATTTA	0.393																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(1798-1800)atC>atT		decapping mRNA 1B							87.0	84.0	85.0					12																	2055426		2203	4300	6503	SO:0001819	synonymous_variant	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2055426G>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1800C>T	12.37:g.2055426G>A						DCP1B_ENST00000397173.4_Silent_p.I498I	p.I600I	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		9	1879	-			600					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	c.1800C>T	CCDS31727.1																																																																																				0.393	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		23	199	0	0	0	1	0	23	199				
EHMT2	10919	broad.mit.edu	37	6	31852732	31852732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852732C>T	ENST00000375537.4	-	19	2411	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H|EHMT2_ENST00000395728.3_Missense_Mutation_p.R859H|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	802					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGTAGCATGCGGATCACCTC	0.657																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2575-2577)cGc>cAc		euchromatic histone-lysine N-methyltransferase 2							75.0	62.0	67.0					6																	31852732		2203	4300	6503	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852732C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2405G>A	6.37:g.31852732C>T	ENSP00000364687:p.Arg802His					EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.R802H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H	p.R859H			Q96KQ7	EHMT2_HUMAN			18	2575	-			802					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2576G>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548211	0.86127	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.28	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.064020	0.64402	D	0.000011	T	0.49525	0.1562	L	0.55481	1.735	0.46981	D	0.999273	P;P;P;P	0.47350	0.894;0.87;0.894;0.743	B;B;B;B	0.41571	0.189;0.119;0.273;0.36	T	0.60969	-0.7157	10	0.66056	D	0.02	.	16.003	0.80308	0.0:1.0:0.0:0.0	.	825;768;802;616	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	859;825;768;802;616	ENSP00000379078:R859H;ENSP00000364678:R825H;ENSP00000364680:R768H;ENSP00000364687:R802H	ENSP00000364678:R825H	R	-	2	0	EHMT2	31960711	0.397000	0.25270	1.000000	0.80357	0.993000	0.82548	0.769000	0.26604	2.382000	0.81193	0.650000	0.86243	CGC		0.657	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		32	263	0	0	0	1	0	32	263				
KDM2B	84678	broad.mit.edu	37	12	121880187	121880187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880187C>T	ENST00000377071.4	-	19	3129	c.3057G>A	c.(3055-3057)ccG>ccA	p.P1019P	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P387P|KDM2B_ENST00000377069.4_Silent_p.P950P	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1019	Pro-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGACACGGGGCGGGCTGCGCA	0.741																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2848-2850)ccG>ccA		lysine (K)-specific demethylase 2B							5.0	6.0	6.0					12																	121880187		1642	3649	5291	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880187C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3057G>A	12.37:g.121880187C>T						KDM2B_ENST00000377071.4_Silent_p.P1019P|KDM2B_ENST00000542973.1_Silent_p.P387P|KDM2B_ENST00000536437.1_Intron	p.P950P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3256	-			1019					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2850G>A	CCDS41850.1																																																																																				0.741	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		11	81	0	0	0	1	0	11	81				
SLC2A8	29988	broad.mit.edu	37	9	130169397	130169397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130169397C>T	ENST00000373371.3	+	10	1392	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	SLC2A8_ENST00000373360.3_Missense_Mutation_p.P386L|SLC2A8_ENST00000373352.1_Missense_Mutation_p.L172F	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	435					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCAGGAGGTCCTCAGGCCCTA	0.567																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1303-1305)Ctc>Ttc		solute carrier family 2 (facilitated glucose transporter), member 8							144.0	128.0	133.0					9																	130169397		2203	4300	6503	SO:0001583	missense	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130169397C>T	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1303C>T	9.37:g.130169397C>T	ENSP00000362469:p.Leu435Phe					SLC2A8_ENST00000373360.3_Missense_Mutation_p.P386L|SLC2A8_ENST00000373352.1_Missense_Mutation_p.L172F	p.L435F	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			10	1392	+			435					Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1303C>T	CCDS6870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.22|12.22	1.872672|1.872672	0.33069|0.33069	.|.	.|.	ENSG00000136856|ENSG00000136856	ENST00000373371;ENST00000373352|ENST00000373360	T;T|T	0.76060|0.56941	-0.99;-0.99|0.43	5.24|5.24	5.24|5.24	0.73138|0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.142073|.	0.48286|.	D|.	0.000199|.	T|T	0.42381|0.42381	0.1200|0.1200	N|N	0.21282|0.21282	0.65|0.65	0.54753|0.54753	D|D	0.999988|0.999988	D|B	0.89917|0.24258	1.0|0.1	D|B	0.97110|0.21708	1.0|0.036	T|T	0.39542|0.39542	-0.9609|-0.9609	10|9	0.21540|0.87932	T|D	0.41|0	.|.	16.3503|16.3503	0.83202|0.83202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	435|386	Q9NY64|Q5VVV9	GTR8_HUMAN|.	F|L	435;172|386	ENSP00000362469:L435F;ENSP00000362450:L172F|ENSP00000362458:P386L	ENSP00000362450:L172F|ENSP00000362458:P386L	L|P	+|+	1|2	0|0	SLC2A8|SLC2A8	129209218|129209218	0.629000|0.629000	0.27146|0.27146	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	2.375000|2.375000	0.44283|0.44283	2.445000|2.445000	0.82738|0.82738	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.567	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		22	689	0	0	0	1	0	22	689				
GNAI1	2770	broad.mit.edu	37	7	79842159	79842159	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:79842159T>A	ENST00000351004.3	+	7	1221	c.848T>A	c.(847-849)cTc>cAc	p.L283H	GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	283					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAGAGCCCTCTCACTATATGC	0.333																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(847-849)cTc>cAc		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							65.0	73.0	70.0					7																	79842159		2203	4292	6495	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79842159T>A	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.848T>A	7.37:g.79842159T>A	ENSP00000343027:p.Leu283His					GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	p.L283H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			7	1221	+			283					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.848T>A	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750899	0.89753	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90620	-2.7;-2.7	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99160	1.0861	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	283	P63096	GNAI1_HUMAN	H	283;231	ENSP00000343027:L283H;ENSP00000410572:L231H	.	L	+	2	0	GNAI1	79680095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.994000	0.88315	2.367000	0.80283	0.529000	0.55759	CTC		0.333	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		68	254	0	0	0	1	0	68	254				
MYRIP	25924	broad.mit.edu	37	3	40231551	40231551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40231551C>T	ENST00000302541.6	+	10	1604	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	MYRIP_ENST00000425621.1_Missense_Mutation_p.P421L|MYRIP_ENST00000396217.3_Missense_Mutation_p.P332L|MYRIP_ENST00000444716.1_Missense_Mutation_p.P421L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.P234L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	421	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCAGGAACCCCCAGCCTCAG	0.632																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1261-1263)cCc>cTc		myosin VIIA and Rab interacting protein							75.0	76.0	76.0					3																	40231551		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231551C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1262C>T	3.37:g.40231551C>T	ENSP00000301972:p.Pro421Leu					MYRIP_ENST00000444716.1_Missense_Mutation_p.P421L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.P234L|MYRIP_ENST00000396217.3_Missense_Mutation_p.P332L|MYRIP_ENST00000425621.1_Missense_Mutation_p.P421L	p.P421L	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1604	+			421			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1262C>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982399	0.53827	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.5	4.63	0.57726	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.317042	0.34314	N	0.004078	T	0.18383	0.0441	N	0.14661	0.345	0.48185	D	0.999601	P;B;B	0.40000	0.698;0.003;0.003	B;B;B	0.43413	0.419;0.009;0.015	T	0.06180	-1.0841	9	.	.	.	.	11.9821	0.53125	0.0:0.9156:0.0:0.0844	.	332;421;421	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	L	421;421;421;332;234	ENSP00000398665:P421L;ENSP00000301972:P421L;ENSP00000389323:P421L;ENSP00000379519:P332L;ENSP00000438297:P234L	.	P	+	2	0	MYRIP	40206555	1.000000	0.71417	0.996000	0.52242	0.893000	0.52053	3.900000	0.56295	1.323000	0.45263	0.655000	0.94253	CCC		0.632	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		11	566	0	0	0	1	0	11	566				
MYH1	4619	broad.mit.edu	37	17	10397923	10397923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10397923C>T	ENST00000226207.5	-	38	5628	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380). {ECO:0000305}.	muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATGTTTGCGTAGACCCTT	0.393																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5533-5535)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							227.0	206.0	213.0					17																	10397923		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397923C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5534G>A	17.37:g.10397923C>T	ENSP00000226207:p.Arg1845His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1845H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			38	5628	-			1845	R -> H (in Ref. 4; CAA27380).				Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5534G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955331	0.73902	.	.	ENSG00000109061	ENST00000226207	D	0.83163	-1.69	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.44097	U	0.000487	D	0.88548	0.6466	M	0.87827	2.91	0.80722	D	1	D	0.56521	0.976	P	0.48304	0.573	D	0.90525	0.4491	10	0.56958	D	0.05	.	18.8437	0.92196	0.0:1.0:0.0:0.0	.	1845	P12882	MYH1_HUMAN	H	1845	ENSP00000226207:R1845H	ENSP00000226207:R1845H	R	-	2	0	MYH1	10338648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.044000	0.71012	2.523000	0.85059	0.561000	0.74099	CGC		0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		97	524	0	0	0	1	0	97	524				
NHLRC1	378884	broad.mit.edu	37	6	18122317	18122317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18122317A>C	ENST00000340650.3	-	1	534	c.521T>G	c.(520-522)aTt>aGt	p.I174S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	174					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGGTACCTAATGTCTTGGGC	0.552																																						ENST00000340650.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(520-522)aTt>aGt		NHL repeat containing 1							105.0	111.0	109.0					6																	18122317		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122317A>C	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.521T>G	6.37:g.18122317A>C	ENSP00000345464:p.Ile174Ser						p.I174S	NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	534	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	174					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.521T>G	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977934	0.34942	.	.	ENSG00000187566	ENST00000340650	D	0.89939	-2.59	4.99	3.8	0.43715	Six-bladed beta-propeller, TolB-like (1);	0.376634	0.25402	N	0.030924	T	0.76147	0.3947	L	0.43152	1.355	0.34863	D	0.742812	B	0.34015	0.435	B	0.32624	0.149	T	0.74290	-0.3713	10	0.72032	D	0.01	-2.1043	10.6441	0.45610	0.8561:0.0:0.0:0.1438	.	174	Q6VVB1	NHLC1_HUMAN	S	174	ENSP00000345464:I174S	ENSP00000345464:I174S	I	-	2	0	NHLRC1	18230296	0.997000	0.39634	0.862000	0.33874	0.540000	0.34992	8.407000	0.90218	0.704000	0.31869	0.533000	0.62120	ATT		0.552	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			75	317	0	0	0	1	0	75	317				
RUSC2	9853	broad.mit.edu	37	9	35548220	35548220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548220G>A	ENST00000455600.1	+	2	2271	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	568						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTGTTGGGGACTCCTCCCA	0.637																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1702-1704)Gac>Aac		RUN and SH3 domain containing 2							21.0	24.0	23.0					9																	35548220		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35548220G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1702G>A	9.37:g.35548220G>A	ENSP00000393922:p.Asp568Asn						p.D568N	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2271	+			568					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1702G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125658	0.77436	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.26957	1.7;1.7	5.86	5.86	0.93980	.	0.184440	0.47852	D	0.000209	T	0.42517	0.1206	L	0.29908	0.895	0.47862	D	0.99953	D	0.89917	1.0	D	0.83275	0.996	T	0.19745	-1.0296	10	0.59425	D	0.04	-21.526	19.1701	0.93574	0.0:0.0:1.0:0.0	.	568	Q8N2Y8	RUSC2_HUMAN	N	568	ENSP00000355177:D568N;ENSP00000393922:D568N	ENSP00000355177:D568N	D	+	1	0	RUSC2	35538220	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.601000	0.74136	2.777000	0.95525	0.655000	0.94253	GAC		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		24	137	0	0	0	1	0	24	137				
SON	6651	broad.mit.edu	37	21	34927550	34927550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34927550G>A	ENST00000356577.4	+	3	6488	c.6013G>A	c.(6013-6015)Gta>Ata	p.V2005I	SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.V2005I|SON_ENST00000300278.4_Missense_Mutation_p.V2005I	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2005	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AAGGTCTGTGGTAAGAAGACG	0.597																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6013-6015)Gta>Ata		SON DNA binding protein							78.0	75.0	76.0					21																	34927550		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927550G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6013G>A	21.37:g.34927550G>A	ENSP00000348984:p.Val2005Ile					SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000300278.4_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.V2005I	p.V2005I	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	6488	+			2005			2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6013G>A	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.344|9.344	1.063723|1.063723	0.20067|0.20067	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679;ENST00000421541|ENST00000436227	T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.291703|.	0.24525|.	N|.	0.037772|.	T|.	0.31231|.	0.0790|.	N|N	0.08118|0.08118	0|0	0.33302|0.33302	D|D	0.564994|0.564994	B;B;B;B;B|.	0.24823|.	0.063;0.038;0.037;0.112;0.112|.	B;B;B;B;B|.	0.23852|.	0.033;0.015;0.012;0.049;0.033|.	T|.	0.41484|.	-0.9506|.	10|.	0.56958|.	D|.	0.05|.	.|.	11.5444|11.5444	0.50685|0.50685	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	2005;2005;1686;2005;2005|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	I|X	2005;2005;2005;2005;66|999	ENSP00000348984:V2005I;ENSP00000290239:V2005I;ENSP00000300278:V2005I;ENSP00000371095:V2005I|.	ENSP00000290239:V2005I|.	V|W	+|+	1|3	0|0	SON|SON	33849420|33849420	0.998000|0.998000	0.40836|0.40836	0.986000|0.986000	0.45419|0.45419	0.745000|0.745000	0.42441|0.42441	3.285000|3.285000	0.51716|0.51716	2.628000|2.628000	0.89032|0.89032	0.650000|0.650000	0.86243|0.86243	GTA|TGG		0.597	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		91	303	0	0	0	1	0	91	303				
ARMC2	84071	broad.mit.edu	37	6	109220981	109220981	+	Missense_Mutation	SNP	G	G	A	rs373656754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109220981G>A	ENST00000392644.4	+	7	1001	c.833G>A	c.(832-834)cGt>cAt	p.R278H	ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	278										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CCGATTTTGCGTGAATTAGAA	0.353																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(832-834)cGt>cAt		armadillo repeat containing 2		G	HIS/ARG	0,4406		0,0,2203	52.0	54.0	53.0		833	-2.4	0.9	6		53	2,8598	2.2+/-6.3	0,2,4298	no	missense	ARMC2	NM_032131.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	278/868	109220981	2,13004	2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109220981G>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.833G>A	6.37:g.109220981G>A	ENSP00000376417:p.Arg278His					ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	p.R278H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	7	1001	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	278					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.833G>A	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710046	0.00712	0.0	2.33E-4	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.39406	1.08;1.08	5.65	-2.41	0.06562	Armadillo-like helical (1);	0.500152	0.23742	N	0.045015	T	0.02571	0.0078	N	0.00483	-1.445	0.21933	N	0.999467	B	0.02656	0.0	B	0.01281	0.0	T	0.43507	-0.9387	10	0.02654	T	1	.	12.4735	0.55799	0.5786:0.0:0.4214:0.0	.	278	Q8NEN0	ARMC2_HUMAN	H	113;278	ENSP00000357968:R113H;ENSP00000376417:R278H	ENSP00000357968:R113H	R	+	2	0	ARMC2	109327674	0.354000	0.24912	0.893000	0.35052	0.026000	0.11368	0.082000	0.14847	-0.289000	0.09038	-0.897000	0.02905	CGT		0.353	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		20	100	0	0	0	1	0	20	100				
CCDC74A	90557	broad.mit.edu	37	2	132290261	132290261	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290261C>A	ENST00000295171.6	+	5	921	c.783C>A	c.(781-783)atC>atA	p.I261I	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.I195I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	261										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCAATGATCCTGCCCCTTC	0.617																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(781-783)atC>atA		coiled-coil domain containing 74A							91.0	94.0	93.0					2																	132290261		2203	4300	6503	SO:0001819	synonymous_variant	90557							g.chr2:132290261C>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.783C>A	2.37:g.132290261C>A						CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.I195I	p.I261I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	921	+			261					Q6P4I5	Silent	SNP	ENST00000295171.6	37	c.783C>A	CCDS2167.1																																																																																				0.617	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		72	734	1	0	2.65773e-34	1	3.16036e-34	72	734				
ZFC3H1	196441	broad.mit.edu	37	12	72017193	72017193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72017193T>C	ENST00000378743.3	-	24	5049	c.4691A>G	c.(4690-4692)cAa>cGa	p.Q1564R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1564					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGAACAGCTTGCCATGGCAT	0.299																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4690-4692)cAa>cGa		zinc finger, C3H1-type containing							99.0	89.0	92.0					12																	72017193		1848	4094	5942	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72017193T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4691A>G	12.37:g.72017193T>C	ENSP00000368017:p.Gln1564Arg						p.Q1564R	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			24	5049	-			1564					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4691A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	6.614	0.481682	0.12581	.	.	ENSG00000133858	ENST00000378743	T	0.32515	1.45	4.98	3.84	0.44239	.	0.152990	0.45606	D	0.000360	T	0.15046	0.0363	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09164	-1.0687	10	0.13853	T	0.58	.	5.883	0.18866	0.1462:0.0788:0.0:0.775	.	1564	O60293	ZC3H1_HUMAN	R	1564	ENSP00000368017:Q1564R	ENSP00000368017:Q1564R	Q	-	2	0	ZFC3H1	70303460	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.069000	0.50026	0.747000	0.32809	0.460000	0.39030	CAA		0.299	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		50	227	0	0	0	1	0	50	227				
DSCAML1	57453	broad.mit.edu	37	11	117302397	117302397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117302397G>A	ENST00000321322.6	-	31	5408	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1743					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGAGTACCGGTTCCGGGTG	0.602																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5407-5409)Cgg>Tgg		Down syndrome cell adhesion molecule like 1							145.0	138.0	141.0					11																	117302397		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117302397G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5407C>T	11.37:g.117302397G>A	ENSP00000315465:p.Arg1803Trp					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	p.R1803W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	31	5408	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1743					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5407C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675749	0.67928	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66099	-0.15;-0.19	4.82	4.82	0.62117	.	.	.	.	.	T	0.65365	0.2684	N	0.24115	0.695	0.58432	D	0.99999	D	0.76494	0.999	D	0.71184	0.972	T	0.68659	-0.5350	9	0.87932	D	0	.	11.7516	0.51852	0.0:0.0:0.7044:0.2956	.	1743	Q8TD84	DSCL1_HUMAN	W	1533;1803;1510	ENSP00000434335:R1533W;ENSP00000315465:R1803W	ENSP00000315465:R1803W	R	-	1	2	DSCAML1	116807607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.224000	0.42945	2.499000	0.84300	0.561000	0.74099	CGG		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		46	569	0	0	0	1	0	46	569				
PSMF1	9491	broad.mit.edu	37	20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T	rs371970750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	204	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(610-612)Cgg>Tgg		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	225.0	233.0	230.0		610,610	5.9	1.0	20		230	0,8600		0,0,4300	no	missense,missense	PSMF1	NM_006814.3,NM_178578.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	204/272,204/272	1144966	1,13005	2203	4300	6503	SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1144966C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.610C>T	20.37:g.1144966C>T	ENSP00000338039:p.Arg204Trp					PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W	p.R204W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			6	786	+			204			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.610C>T	CCDS13010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477537|3.477537	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000125818|ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768|ENST00000435720	T;T;T;T;T|.	0.48836|.	1.45;0.8;1.45;1.45;0.85|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.135451|.	0.49916|.	D|.	0.000136|.	T|T	0.70116|0.70116	0.3187|0.3187	L|L	0.50333|0.50333	1.59|1.59	0.43347|0.43347	D|D	0.995403|0.995403	D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.998;0.998|.	P;P;P;P;P|.	0.60609|.	0.828;0.736;0.877;0.828;0.745|.	T|T	0.64939|0.64939	-0.6289|-0.6289	10|5	0.66056|.	D|.	0.02|.	-3.1599|-3.1599	18.1736|18.1736	0.89754|0.89754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;116;116;204;204|.	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530|.	.;.;.;.;PSMF1_HUMAN|.	W|L	204;116;98;204;204;142|45	ENSP00000327704:R204W;ENSP00000371323:R116W;ENSP00000246015:R204W;ENSP00000338039:R204W;ENSP00000401404:R142W|.	ENSP00000246015:R204W|.	R|S	+|+	1|2	2|0	PSMF1|PSMF1	1092966|1092966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.376000|0.376000	0.30014|0.30014	2.633000|2.633000	0.46519|0.46519	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.552	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		261	1186	0	0	0	1	0	261	1186				
H6PD	9563	broad.mit.edu	37	1	9324603	9324603	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324603G>T	ENST00000377403.2	+	5	2353	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I	H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	684	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGCCAACAGCAGCTTCGAC	0.667																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2050-2052)aGc>aTc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						56.0	57.0	57.0					1																	9324603		2203	4299	6502	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324603G>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2051G>T	1.37:g.9324603G>T	ENSP00000366620:p.Ser684Ile					H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	p.S684I	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2353	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	684			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2051G>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533434	0.45073	.	.	ENSG00000049239	ENST00000377403	T	0.45668	0.89	5.72	3.75	0.43078	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.290238	0.43579	D	0.000548	T	0.33585	0.0868	L	0.39692	1.235	0.53688	D	0.999978	B	0.28128	0.201	B	0.35182	0.197	T	0.29882	-0.9997	10	0.72032	D	0.01	-21.6768	4.5196	0.11952	0.0826:0.2441:0.541:0.1322	.	684	O95479	G6PE_HUMAN	I	684	ENSP00000366620:S684I	ENSP00000366620:S684I	S	+	2	0	H6PD	9247190	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.360000	0.59455	1.432000	0.47375	-0.258000	0.10820	AGC		0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		74	434	1	0	8.70598e-44	1	1.06393e-43	74	434				
TBRG4	9238	broad.mit.edu	37	7	45144233	45144233	+	Missense_Mutation	SNP	G	G	A	rs143689271		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45144233G>A	ENST00000258770.3	-	4	932	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	TBRG4_ENST00000395655.4_Intron|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000494076.1_Missense_Mutation_p.R271W	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	271					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGCACGGACCGCCGGCTCTGA	0.612																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(811-813)Cgg>Tgg		transforming growth factor beta regulator 4		G	TRP/ARG,,	1,4405	2.1+/-5.4	0,1,2202	64.0	57.0	59.0		811,,	3.8	1.0	7	dbSNP_134	59	0,8600		0,0,4300	no	missense,intron,intron	TBRG4	NM_004749.2,NM_030900.2,NM_199122.1	101,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,	271/632,,	45144233	1,13005	2203	4300	6503	SO:0001583	missense	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45144233G>A	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.811C>T	7.37:g.45144233G>A	ENSP00000258770:p.Arg271Trp					TBRG4_ENST00000494076.1_Missense_Mutation_p.R271W|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000395655.4_Intron	p.R271W	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			4	932	-			271					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	c.811C>T	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512987	0.64522	2.27E-4	0.0	ENSG00000136270	ENST00000258770;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T	0.69685	2.75;2.75;0.73;-0.42	5.69	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	M	0.72894	2.215	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80074	-0.1534	10	0.72032	D	0.01	.	12.217	0.54412	0.0:0.0:0.6897:0.3103	.	282;271	B4DU42;Q969Z0	.;TBRG4_HUMAN	W	271;271;236;217	ENSP00000258770:R271W;ENSP00000420597:R271W;ENSP00000418631:R236W;ENSP00000417743:R217W	ENSP00000258770:R271W	R	-	1	2	TBRG4	45110758	1.000000	0.71417	0.978000	0.43139	0.619000	0.37552	3.104000	0.50306	0.698000	0.31739	0.655000	0.94253	CGG		0.612	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		7	297	0	0	0	1	0	7	297				
RNF128	79589	broad.mit.edu	37	X	106016155	106016155	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016155T>G	ENST00000255499.2	+	2	747	c.497T>G	c.(496-498)aTt>aGt	p.I166S	RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	166	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCAGTAGACATTGTTGCAATC	0.328																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(496-498)aTt>aGt		ring finger protein 128, E3 ubiquitin protein ligase							111.0	93.0	99.0					X																	106016155		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016155T>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.497T>G	X.37:g.106016155T>G	ENSP00000255499:p.Ile166Ser					RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	p.I166S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	747	+			166			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.497T>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407574	0.62399	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.10960	2.82;2.82;2.82	5.65	5.65	0.86999	Protease-associated domain, PA (1);	0.284101	0.37219	N	0.002198	T	0.31857	0.0810	M	0.80422	2.495	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.977	T	0.08700	-1.0709	10	0.87932	D	0	.	8.3492	0.32292	0.0:0.0893:0.0:0.9107	.	166;140	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	113;140;166	ENSP00000412610:I113S;ENSP00000316127:I140S;ENSP00000255499:I166S	ENSP00000255499:I166S	I	+	2	0	RNF128	105902811	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.987000	0.40687	1.889000	0.54706	0.417000	0.27973	ATT		0.328	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		78	260	0	0	0	1	0	78	260				
PGR	5241	broad.mit.edu	37	11	100998653	100998653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998653G>A	ENST00000325455.5	-	1	2602	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.P383P	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	383	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCTTTAGAGCGGGCGGCTGGA	0.682																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1147-1149)ccC>ccT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						14.0	18.0	16.0					11																	100998653		2044	4071	6115	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998653G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1149C>T	11.37:g.100998653G>A						PGR_ENST00000263463.5_Silent_p.P383P|PGR_ENST00000534013.1_Intron	p.P383P	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2602	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	383			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.1149C>T	CCDS8310.1																																																																																				0.682	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			35	191	0	0	0	1	0	35	191				
TEX2	55852	broad.mit.edu	37	17	62265718	62265718	+	Missense_Mutation	SNP	C	C	T	rs532625988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62265718C>T	ENST00000583097.1	-	5	2406	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	TEX2_ENST00000584379.1_Missense_Mutation_p.R745H|TEX2_ENST00000258991.3_Missense_Mutation_p.R752H			Q8IWB9	TEX2_HUMAN	testis expressed 2	745					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCTGCTGCTGCGGCTGTGGGT	0.577																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2254-2256)cGc>cAc		testis expressed 2							82.0	68.0	73.0					17																	62265718		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62265718C>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2234G>A	17.37:g.62265718C>T	ENSP00000462665:p.Arg745His					TEX2_ENST00000584379.1_Missense_Mutation_p.R745H|TEX2_ENST00000583097.1_Missense_Mutation_p.R745H	p.R752H			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	5	2339	-			745					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.2255G>A		.	.	.	.	.	.	.	.	.	.	C	17.98	3.521129	0.64747	.	.	ENSG00000136478	ENST00000258991	T	0.48836	0.8	5.88	5.88	0.94601	.	0.100985	0.64402	D	0.000002	T	0.52158	0.1717	M	0.76574	2.34	0.80722	D	1	P;P	0.44578	0.838;0.75	B;B	0.37387	0.248;0.126	T	0.61103	-0.7130	10	0.72032	D	0.01	-13.9632	20.2405	0.98372	0.0:1.0:0.0:0.0	.	752;745	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	H	752	ENSP00000258991:R752H	ENSP00000258991:R752H	R	-	2	0	TEX2	59619450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.779000	0.68948	2.797000	0.96272	0.561000	0.74099	CGC		0.577	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		75	332	0	0	0	1	0	75	332				
PIF1	80119	broad.mit.edu	37	15	65111378	65111378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65111378C>T	ENST00000268043.4	-	9	1472	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	PIF1_ENST00000333425.6_Missense_Mutation_p.A460T|PIF1_ENST00000559239.1_Missense_Mutation_p.A460T					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						AGGGTACTGGCCAGCTCAGGG	0.542																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(1378-1380)Gcc>Acc		PIF1 5'-to-3' DNA helicase							45.0	41.0	43.0					15																	65111378		2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65111378C>T	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1378G>A	15.37:g.65111378C>T	ENSP00000268043:p.Ala460Thr					PIF1_ENST00000559239.1_Missense_Mutation_p.A460T|PIF1_ENST00000333425.6_Missense_Mutation_p.A460T	p.A460T			Q9H611	PIF1_HUMAN			9	1472	-			460			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1378G>A	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	0.918	-0.716799	0.03206	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.76968	-1.06;-1.06	5.11	3.16	0.36331	.	0.295485	0.36740	N	0.002427	T	0.50429	0.1615	N	0.03903	-0.33	0.26512	N	0.974573	B	0.17852	0.024	B	0.20384	0.029	T	0.35919	-0.9769	10	0.13470	T	0.59	-12.1785	7.4709	0.27349	0.1659:0.7433:0.0:0.0908	.	460	Q9H611	PIF1_HUMAN	T	460	ENSP00000268043:A460T;ENSP00000328174:A460T	ENSP00000268043:A460T	A	-	1	0	PIF1	62898431	1.000000	0.71417	0.342000	0.25602	0.133000	0.20885	4.742000	0.62103	0.606000	0.29965	0.655000	0.94253	GCC		0.542	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		8	151	0	0	0	1	0	8	151				
DSC3	1825	broad.mit.edu	37	18	28586953	28586953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28586953A>G	ENST00000360428.4	-	12	1888	c.1808T>C	c.(1807-1809)gTc>gCc	p.V603A	DSC3_ENST00000434452.1_Missense_Mutation_p.V603A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	603	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGCTCCATGGACAGGTTCATC	0.358																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1807-1809)gTc>gCc		desmocollin 3							107.0	105.0	106.0					18																	28586953		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28586953A>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1808T>C	18.37:g.28586953A>G	ENSP00000353608:p.Val603Ala					DSC3_ENST00000360428.4_Missense_Mutation_p.V603A	p.V603A	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		12	1962	-			603			Cadherin 5.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1808T>C	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	0.632	-0.816678	0.02776	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.60548	0.18;0.18	5.11	-0.191	0.13252	Cadherin (2);Cadherin-like (1);	1.001040	0.08063	N	0.998654	T	0.37839	0.1018	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.21655	-1.0239	10	0.11794	T	0.64	.	4.6816	0.12738	0.4613:0.0:0.3889:0.1498	.	603;603	Q14574;Q14574-2	DSC3_HUMAN;.	A	603	ENSP00000353608:V603A;ENSP00000392068:V603A	ENSP00000353608:V603A	V	-	2	0	DSC3	26840951	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	0.391000	0.20784	0.068000	0.16574	-0.490000	0.04691	GTC		0.358	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		58	247	0	0	0	1	0	58	247				
COCH	1690	broad.mit.edu	37	14	31355352	31355352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355352C>A	ENST00000396618.3	+	11	1367	c.1311C>A	c.(1309-1311)atC>atA	p.I437I	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Silent_p.I437I|COCH_ENST00000460581.2_Silent_p.I325I|COCH_ENST00000475087.1_Silent_p.I437I|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Silent_p.I288I	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	437	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGAAACATCCGCTATATGA	0.453																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(973-975)atC>atA		cochlin							152.0	127.0	135.0					14																	31355352		2203	4300	6503	SO:0001819	synonymous_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355352C>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1311C>A	14.37:g.31355352C>A						COCH_ENST00000475087.1_Silent_p.I437I|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.I437I|COCH_ENST00000396618.3_Silent_p.I437I|COCH_ENST00000382493.4_Silent_p.I288I	p.I325I			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1521	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		437			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	c.975C>A	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479494	0.44044	.	.	ENSG00000100473	ENST00000468826	.	.	.	5.89	1.97	0.26223	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40701	-0.9549	4	.	.	.	-16.2163	6.53	0.22322	0.2206:0.5955:0.0:0.1839	.	.	.	.	Y	321	.	.	S	+	2	0	COCH	30425103	0.911000	0.30947	0.998000	0.56505	0.980000	0.70556	0.214000	0.17541	0.080000	0.16959	0.557000	0.71058	TCC		0.453	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		15	431	1	0	6.72482e-11	1	7.15107e-11	15	431				
PRIMA1	145270	broad.mit.edu	37	14	94187802	94187802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94187802G>A	ENST00000393140.1	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_ENST00000393143.1_Silent_p.N150N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	150					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACACCACTGCGTTGTTCACGT	0.557																																						ENST00000393140.1																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(448-450)aaC>aaT		proline rich membrane anchor 1							131.0	92.0	105.0					14																	94187802		2203	4300	6503	SO:0001819	synonymous_variant	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94187802G>A		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.450C>T	14.37:g.94187802G>A						PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N150N	p.N150N	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	5	552	-		all_cancers(154;0.127)	150					Q86XR6	Silent	SNP	ENST00000393140.1	37	c.450C>T	CCDS9912.1																																																																																				0.557	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		48	171	0	0	0	1	0	48	171				
TECPR2	9895	broad.mit.edu	37	14	102901147	102901147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102901147C>T	ENST00000359520.7	+	9	2219	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	665					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACAGTGGCTGCCTGGGACCAG	0.597																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1993-1995)Cct>Tct		tectonin beta-propeller repeat containing 2							26.0	27.0	26.0					14																	102901147		2202	4300	6502	SO:0001583	missense	9895						protein binding	g.chr14:102901147C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1993C>T	14.37:g.102901147C>T	ENSP00000352510:p.Pro665Ser					TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	p.P665S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	2219	+			665					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.1993C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393809	0.42410	.	.	ENSG00000196663	ENST00000359520	T	0.13778	2.56	5.46	4.52	0.55395	.	0.643972	0.12979	N	0.423492	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	1	P;P	0.36048	0.534;0.534	B;B	0.34138	0.176;0.176	T	0.17379	-1.0371	9	.	.	.	.	10.1963	0.43056	0.1591:0.7047:0.1362:0.0	.	665;665	A5PKY3;O15040	.;TCPR2_HUMAN	S	665	ENSP00000352510:P665S	.	P	+	1	0	TECPR2	101970900	0.000000	0.05858	0.010000	0.14722	0.110000	0.19582	0.082000	0.14847	2.576000	0.86940	0.555000	0.69702	CCT		0.597	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		28	171	0	0	0	1	0	28	171				
BOD1L1	259282	broad.mit.edu	37	4	13602068	13602068	+	Silent	SNP	G	G	A	rs139854434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13602068G>A	ENST00000040738.5	-	10	6591	c.6456C>T	c.(6454-6456)ttC>ttT	p.F2152F		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2152						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F2152F(1)									TAGGCAATTCGAATTCTTCCC	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20524	0.0		0.0	False		,,,				2504	0.0					ENST00000040738.5																			1	Substitution - coding silent(1)	p.F2152F(1)	endometrium(1)								c.(6454-6456)ttC>ttT		biorientation of chromosomes in cell division 1-like 1							86.0	75.0	79.0					4																	13602068		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13602068G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6456C>T	4.37:g.13602068G>A							p.F2152F	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6591	-			2152					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.6456C>T	CCDS3411.2																																																																																				0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		44	271	0	0	0	1	0	44	271				
KRT38	8687	broad.mit.edu	37	17	39595014	39595014	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39595014G>A	ENST00000246646.3	-	4	828	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	277	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(829-831)Cgg>Tgg		keratin 38							142.0	136.0	138.0					17																	39595014		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39595014G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.829C>T	17.37:g.39595014G>A	ENSP00000246646:p.Arg277Trp						p.R277W	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			4	828	-		Breast(137;0.000496)	277			Coil 2.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.829C>T	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946566	0.34377	.	.	ENSG00000171360	ENST00000246646	D	0.93488	-3.23	4.27	-4.06	0.03986	Filament (1);	0.000000	0.44902	D	0.000401	D	0.92028	0.7474	M	0.92077	3.27	0.37369	D	0.911553	P	0.38767	0.646	B	0.35510	0.204	D	0.87499	0.2432	10	0.87932	D	0	.	8.7404	0.34554	0.1057:0.0:0.2405:0.6538	.	277	O76015	KRT38_HUMAN	W	277	ENSP00000246646:R277W	ENSP00000246646:R277W	R	-	1	2	KRT38	36848540	0.000000	0.05858	0.927000	0.36925	0.624000	0.37722	-1.242000	0.02908	-0.355000	0.08199	-0.410000	0.06199	CGG		0.582	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		119	504	0	0	0	1	0	119	504				
ZNF665	79788	broad.mit.edu	37	19	53667726	53667726	+	Nonsense_Mutation	SNP	G	G	A	rs202219454	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53667726G>A	ENST00000600412.1	-	2	1937	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGTTTTGCA	0.488													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19464	0.001		0.0	False		,,,				2504	0.0					ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1822-1824)Cga>Tga		zinc finger protein 665							40.0	41.0	41.0					19																	53667726		2160	4286	6446	SO:0001587	stop_gained	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53667726G>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1822C>T	19.37:g.53667726G>A	ENSP00000469154:p.Arg608*					ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*	p.R608*			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1937	-			608					A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	37	c.1822C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.902202	0.92035	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.23	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.22601	N	0.998943	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.6878	0.28550	0.1416:0.0:0.8584:0.0	.	.	.	.	X	673	.	ENSP00000379702:R673X	R	-	1	2	ZNF665	58359538	0.000000	0.05858	0.005000	0.12908	0.045000	0.14185	-0.524000	0.06222	0.262000	0.21774	0.543000	0.68304	CGA		0.488	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		18	132	0	0	0	1	0	18	132				
HTR3D	200909	broad.mit.edu	37	3	183755893	183755893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183755893C>A	ENST00000382489.3	+	6	745	c.745C>A	c.(745-747)Ctc>Atc	p.L249I	HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	249					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CATCGATGCCCTCAGTTTCTA	0.552																																						ENST00000382489.3																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(745-747)Ctc>Atc		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic							105.0	88.0	93.0					3																	183755893		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183755893C>A	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.745C>A	3.37:g.183755893C>A	ENSP00000371929:p.Leu249Ile					HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	p.L249I	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	745	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		249					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.745C>A	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629200	0.28978	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	3.29	2.35	0.29111	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.148834	0.45361	D	0.000362	D	0.88588	0.6477	L	0.52126	1.63	0.22401	N	0.999139	P;P;P;P	0.49307	0.726;0.922;0.673;0.922	P;P;B;P	0.55577	0.665;0.615;0.444;0.779	T	0.79322	-0.1851	10	0.41790	T	0.15	-12.8873	7.1909	0.25824	0.0:0.8478:0.0:0.1522	.	249;76;30;76	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	I	76;201;249;30	ENSP00000334315:L76I;ENSP00000405409:L201I;ENSP00000371929:L249I;ENSP00000389268:L30I	ENSP00000334315:L76I	L	+	1	0	HTR3D	185238587	0.998000	0.40836	0.960000	0.40013	0.008000	0.06430	0.707000	0.25704	0.652000	0.30806	0.561000	0.74099	CTC		0.552	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		16	289	1	0	6.72482e-11	1	7.15107e-11	16	289				
ARID1A	8289	broad.mit.edu	37	1	27105787	27105787	+	Missense_Mutation	SNP	A	A	T	rs551963483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27105787A>T	ENST00000324856.7	+	20	5769	c.5398A>T	c.(5398-5400)Aat>Tat	p.N1800Y	ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1800					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTTCAGAGAATAGTGAGGA	0.433			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5398-5400)Aat>Tat		AT rich interactive domain 1A (SWI-like)							69.0	61.0	64.0					1																	27105787		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105787A>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5398A>T	1.37:g.27105787A>T	ENSP00000320485:p.Asn1800Tyr					ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y	p.N1800Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5769	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1800					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5398A>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.46|14.46	2.542364|2.542364	0.45280|0.45280	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T|T;T;T;T	0.03607|0.10099	3.87|4.47;4.29;4.29;2.91	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.896432	.|0.10149	.|N	.|0.709919	T|T	0.10423|0.10423	0.0255|0.0255	L|L	0.34521|0.34521	1.04|1.04	0.38307|0.38307	D|D	0.943141|0.943141	.|B;B;B	.|0.31351	.|0.143;0.086;0.32	.|B;B;B	.|0.34931	.|0.048;0.045;0.192	T|T	0.19418|0.19418	-1.0306|-1.0306	7|10	0.87932|0.59425	D|D	0|0.04	-0.7307|-0.7307	6.2998|6.2998	0.21107|0.21107	0.7827:0.0:0.0757:0.1416|0.7827:0.0:0.0757:0.1416	.|.	.|1417;1800;1583	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	V|Y	696|1800;1583;1417;128	ENSP00000390317:E696V|ENSP00000320485:N1800Y;ENSP00000387636:N1583Y;ENSP00000363267:N1417Y;ENSP00000442437:N128Y	ENSP00000390317:E696V|ENSP00000320485:N1800Y	E|N	+|+	2|1	0|0	ARID1A|ARID1A	26978374|26978374	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	3.771000|3.771000	0.55318|0.55318	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	GAA|AAT		0.433	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		34	286	0	0	0	1	0	34	286				
C21orf91	54149	broad.mit.edu	37	21	19169392	19169392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19169392G>A	ENST00000400558.3	-	3	261	c.171C>T	c.(169-171)ggC>ggT	p.G57G	C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.G57G|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Silent_p.G57G	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGTCTTTATGGCCCCTTAATG	0.338																																						ENST00000284881.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(169-171)ggC>ggT		chromosome 21 open reading frame 91							74.0	70.0	71.0					21																	19169392		1823	4069	5892	SO:0001819	synonymous_variant	54149							g.chr21:19169392G>A	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.171C>T	21.37:g.19169392G>A						C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.G57G|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400558.3_Silent_p.G57G	p.G57G	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	3	261	-			57						Silent	SNP	ENST00000400558.3	37	c.171C>T	CCDS42909.1																																																																																				0.338	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		54	312	0	0	0	1	0	54	312				
USH2A	7399	broad.mit.edu	37	1	216019173	216019173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216019173G>A	ENST00000307340.3	-	45	9434	c.9048C>T	c.(9046-9048)tgC>tgT	p.C3016C	USH2A_ENST00000366943.2_Silent_p.C3016C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3016	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.C3016C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCCCCATCGCAAGTGGTTG	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - coding silent(1)	p.C3016C(1)	endometrium(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9046-9048)tgC>tgT		Usher syndrome 2A (autosomal recessive, mild)							77.0	72.0	74.0					1																	216019173		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216019173G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9048C>T	1.37:g.216019173G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.C3016C	p.C3016C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	45	9434	-			3016					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.9048C>T	CCDS31025.1																																																																																				0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		32	215	0	0	0	1	0	32	215				
TTN	7273	broad.mit.edu	37	2	179393838	179393838	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179393838G>T	ENST00000591111.1	-	310	101941	c.101717C>A	c.(101716-101718)tCt>tAt	p.S33906Y	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35547Y|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33906					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)			AATTTCTTCAGACCTTAGGGC	0.393																																						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.(106639-106641)tCt>tAt		titin							58.0	55.0	56.0					2																	179393838		1814	4069	5883	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393838G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101717C>A	2.37:g.179393838G>T	ENSP00000465570:p.Ser33906Tyr					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33906Y|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA	p.S35547Y	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)		360	106864	-			33906					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.106640C>A		.	.	.	.	.	.	.	.	.	.	G	14.95	2.689384	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;0.14;0.12;0.11	5.54	5.54	0.83059	Ribonuclease H-like (1);	.	.	.	.	T	0.70334	0.3212	N	0.19112	0.55	0.39804	D	0.972609	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	D;D;D;D	0.71656	0.974;0.974;0.974;0.974	T	0.75431	-0.3320	9	0.87932	D	0	.	14.9955	0.71428	0.0:0.0:1.0:0.0	.	26482;26607;26674;33906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	32979;26482;26674;26607;26479	ENSP00000343764:S32979Y;ENSP00000434586:S26482Y;ENSP00000340554:S26674Y;ENSP00000352154:S26607Y	ENSP00000340554:S26674Y	S	-	2	0	TTN	179102084	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.390000	0.66261	2.607000	0.88179	0.655000	0.94253	TCT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	129	1	0	1.62957e-23	1	1.85347e-23	43	129				
ITK	3702	broad.mit.edu	37	5	156635904	156635904	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156635904A>C	ENST00000422843.3	+	2	295	c.143A>C	c.(142-144)aAg>aCg	p.K48T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCACAGAAGAAGCGCACGCTG	0.433			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(142-144)aAg>aCg		IL2-inducible T-cell kinase							87.0	81.0	83.0					5																	156635904		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156635904A>C	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.143A>C	5.37:g.156635904A>C	ENSP00000398655:p.Lys48Thr					CTB-4E7.1_ENST00000519375.1_RNA	p.K48T	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	295	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	48			PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.143A>C	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627245	0.66901	.	.	ENSG00000113263	ENST00000422843	D	0.93488	-3.23	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.71206	2.165	0.51767	D	0.999931	D	0.69078	0.997	D	0.63793	0.918	D	0.95208	0.8323	10	0.72032	D	0.01	.	9.629	0.39768	0.844:0.0:0.0:0.156	.	48	Q08881	ITK_HUMAN	T	48	ENSP00000398655:K48T	ENSP00000398655:K48T	K	+	2	0	ITK	156568482	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.514000	0.67043	1.989000	0.58080	0.459000	0.35465	AAG		0.433	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			21	127	0	0	0	1	0	21	127				
ARHGAP18	93663	broad.mit.edu	37	6	129950516	129950516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129950516G>A	ENST00000368149.2	-	5	856	c.768C>T	c.(766-768)ggC>ggT	p.G256G		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGCATCATCGCCTTTGCTCT	0.413																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(766-768)ggC>ggT		Rho GTPase activating protein 18							122.0	119.0	120.0					6																	129950516		2203	4300	6503	SO:0001819	synonymous_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129950516G>A	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.768C>T	6.37:g.129950516G>A							p.G256G	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	5	856	-			256						Silent	SNP	ENST00000368149.2	37	c.768C>T	CCDS34535.1																																																																																				0.413	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		142	523	0	0	0	1	0	142	523				
NEGR1	257194	broad.mit.edu	37	1	72241933	72241933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:72241933C>T	ENST00000357731.5	-	3	696	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R|NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	153	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACGTTGGTTCCTTCATTGACG	0.388																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(457-459)Gga>Aga		neuronal growth regulator 1							115.0	104.0	107.0					1																	72241933		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72241933C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.457G>A	1.37:g.72241933C>T	ENSP00000350364:p.Gly153Arg					NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R|NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000467479.1_5'UTR	p.G153R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	3	696	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	153			Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.457G>A	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679154	0.68042	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.81330	-1.48;-1.48;-1.48	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.946	D	0.93664	0.6984	10	0.87932	D	0	-8.9553	18.9902	0.92788	0.0:1.0:0.0:0.0	.	151;153	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	R	153;25;151	ENSP00000350364:G153R;ENSP00000305938:G25R;ENSP00000413294:G151R	ENSP00000305938:G25R	G	-	1	0	NEGR1	72014521	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.137000	0.77295	2.780000	0.95670	0.655000	0.94253	GGA		0.388	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		16	103	0	0	0	1	0	16	103				
PRPS1L1	221823	broad.mit.edu	37	7	18067034	18067034	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18067034G>A	ENST00000506618.2	-	1	452	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	124					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCATGGTGATGATATGATCCG	0.468																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(370-372)atC>atT		phosphoribosyl pyrophosphate synthetase 1-like 1							146.0	144.0	145.0					7																	18067034		2203	4300	6503	SO:0001819	synonymous_variant	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067034G>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.372C>T	7.37:g.18067034G>A							p.I124I	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	452	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		124					Q6P5P6	Silent	SNP	ENST00000506618.2	37	c.372C>T	CCDS47552.1																																																																																				0.468	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		124	510	0	0	0	1	0	124	510				
NF1	4763	broad.mit.edu	37	17	29661957	29661957	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661957A>G	ENST00000358273.4	+	40	6297	c.5914A>G	c.(5914-5916)Act>Gct	p.T1972A	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.T1951A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1972					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAGAGTTACTGCTATTCT	0.378			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5914-5916)Act>Gct		neurofibromin 1							126.0	113.0	118.0					17																	29661957		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29661957A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5914A>G	17.37:g.29661957A>G	ENSP00000351015:p.Thr1972Ala	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.T1951A|NF1_ENST00000581113.2_3'UTR	p.T1972A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6297	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1972					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5914A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663107	0.29515	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.27256	1.68;1.68;1.68	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	N	0.01473	-0.845	0.80722	D	1	B;B	0.26147	0.143;0.0	B;B	0.20184	0.028;0.002	T	0.26677	-1.0096	10	0.17369	T	0.5	.	15.6824	0.77381	1.0:0.0:0.0:0.0	.	1951;1972	P21359-2;P21359	.;NF1_HUMAN	A	1972;1951;1617	ENSP00000351015:T1972A;ENSP00000348498:T1951A;ENSP00000389907:T1617A	ENSP00000348498:T1951A	T	+	1	0	NF1	26686083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.760000	0.91671	2.117000	0.64856	0.455000	0.32223	ACT		0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		65	263	0	0	0	1	0	65	263				
ZCCHC14	23174	broad.mit.edu	37	16	87448966	87448966	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87448966C>A	ENST00000268616.4	-	9	1197	c.980G>T	c.(979-981)aGc>aTc	p.S327I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	327							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCAGTAAGGCTCAAAAACTT	0.393																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(979-981)aGc>aTc		zinc finger, CCHC domain containing 14							93.0	93.0	93.0					16																	87448966		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87448966C>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.980G>T	16.37:g.87448966C>A	ENSP00000268616:p.Ser327Ile						p.S327I	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	9	1197	-			327					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.980G>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036877	0.75617	.	.	ENSG00000140948	ENST00000268616	T	0.50813	0.73	5.8	5.8	0.92144	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.133890	0.64402	D	0.000002	T	0.64114	0.2569	L	0.42245	1.32	0.39463	D	0.967599	D;D	0.76494	0.998;0.999	D;D	0.74674	0.934;0.984	T	0.65425	-0.6171	10	0.72032	D	0.01	-30.6939	20.0537	0.97638	0.0:1.0:0.0:0.0	.	327;327	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	I	327	ENSP00000268616:S327I	ENSP00000268616:S327I	S	-	2	0	ZCCHC14	86006467	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.334000	0.59291	2.758000	0.94735	0.561000	0.74099	AGC		0.393	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		71	336	1	0	3.31162e-33	1	3.92088e-33	71	336				
CRIP2	1397	broad.mit.edu	37	14	105945984	105945984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105945984G>T	ENST00000329146.4	+	8	1334	c.621G>T	c.(619-621)caG>caT	p.Q207H	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.Q281H	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	207					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGTCCAGCCCTAGGCTA	0.677																																						ENST00000329146.4																			0				lung(2)	2						c.(619-621)caG>caT		cysteine-rich protein 2							79.0	68.0	72.0					14																	105945984		2194	4290	6484	SO:0001583	missense	1397						zinc ion binding	g.chr14:105945984G>T		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.621G>T	14.37:g.105945984G>T	ENSP00000328521:p.Gln207His					CRIP2_ENST00000483017.3_Missense_Mutation_p.Q281H|CRIP2_ENST00000548989.1_3'UTR	p.Q207H	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)	8	1334	+		Melanoma(154;0.226)	207					A1A4U1|B7Z6C0|E9PD13	Missense_Mutation	SNP	ENST00000329146.4	37	c.621G>T	CCDS10003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.724626|2.724626	0.48833|0.48833	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000550577;ENST00000538259|ENST00000483017;ENST00000329146	.|T;T	.|0.73789	.|-0.78;-0.28	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|.	.|.	.|.	.|.	T|T	0.73528|0.73528	0.3598|0.3598	N|N	0.19112|0.19112	0.55|0.55	0.47621|0.47621	D|D	0.999477|0.999477	.|D;D;D	.|0.65815	.|0.989;0.995;0.989	.|P;P;P	.|0.62885	.|0.854;0.908;0.795	T|T	0.76165|0.76165	-0.3059|-0.3059	5|9	.|0.62326	.|D	.|0.03	-3.9129|-3.9129	11.5747|11.5747	0.50854|0.50854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;207;207	.|B7Z6C0;Q53FN1;P52943	.|.;.;CRIP2_HUMAN	S|H	103;191|281;207	.|ENSP00000426119:Q281H;ENSP00000328521:Q207H	.|ENSP00000328521:Q207H	A|Q	+|+	1|3	0|2	CRIP2|CRIP2	105017029|105017029	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.142000|0.142000	0.21351|0.21351	2.940000|2.940000	0.49003|0.49003	2.082000|2.082000	0.62665|0.62665	0.313000|0.313000	0.20887|0.20887	GCC|CAG		0.677	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	NM_001312		6	87	1	0	0.00307968	1	0.00310409	6	87				
PTPRO	5800	broad.mit.edu	37	12	15742452	15742452	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15742452T>G	ENST00000281171.4	+	25	3804	c.3474T>G	c.(3472-3474)gaT>gaG	p.D1158E	PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1158	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTCGGGATCATGAGTTTG	0.448																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3472-3474)gaT>gaG		protein tyrosine phosphatase, receptor type, O							196.0	176.0	183.0					12																	15742452		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742452T>G	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3474T>G	12.37:g.15742452T>G	ENSP00000281171:p.Asp1158Glu					PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E	p.D1158E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			25	3804	+		Hepatocellular(102;0.244)	1158			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3474T>G	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	8.168	0.791125	0.16258	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.1	-4.97	0.03029	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.51477	D	0.000096	T	0.59595	0.2205	N	0.13272	0.32	0.34027	D	0.653411	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.56269	-0.8007	10	0.02654	T	1	.	12.0958	0.53755	0.0:0.5968:0.1148:0.2884	.	319;1130;1158	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	E	1158;1130;347;319;347;319	ENSP00000281171:D1158E;ENSP00000343434:D1130E;ENSP00000404188:D347E;ENSP00000437571:D319E;ENSP00000393449:D347E;ENSP00000439234:D319E	ENSP00000281171:D1158E	D	+	3	2	PTPRO	15633719	0.544000	0.26441	0.730000	0.30809	0.741000	0.42261	-0.283000	0.08433	-1.202000	0.02655	-0.441000	0.05720	GAT		0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			132	467	0	0	0	1	0	132	467				
NLRC5	84166	broad.mit.edu	37	16	57091998	57091998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57091998C>T	ENST00000262510.6	+	28	3993	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	NLRC5_ENST00000436936.1_Silent_p.G1256G|NLRC5_ENST00000539144.1_Silent_p.G1227G|NLRC5_ENST00000308149.7_Silent_p.G1227G|RP11-322D14.2_ENST00000562970.1_RNA	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1256					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTGCTGGGCGACAGCGGAC	0.577																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3766-3768)ggC>ggT		NLR family, CARD domain containing 5							57.0	47.0	50.0					16																	57091998		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57091998C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3768C>T	16.37:g.57091998C>T						RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.G1227G|NLRC5_ENST00000262510.6_Silent_p.G1256G|NLRC5_ENST00000539144.1_Silent_p.G1227G	p.G1256G			Q86WI3	NLRC5_HUMAN			28	3993	+		all_neural(199;0.225)	1256					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3768C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908825	0.02434	.	.	ENSG00000140853	ENST00000538805;ENST00000399221	.	.	.	4.68	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9464	0.01366	0.1515:0.2682:0.1567:0.4237	.	.	.	.	X	1008;8	.	.	R	+	1	2	NLRC5	55649499	0.995000	0.38212	0.443000	0.26883	0.005000	0.04900	-0.097000	0.11042	-0.621000	0.05633	-1.490000	0.00973	CGA		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		17	62	0	0	0	1	0	17	62				
PLAA	9373	broad.mit.edu	37	9	26910348	26910348	+	Missense_Mutation	SNP	T	T	C	rs533908233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26910348T>C	ENST00000397292.3	-	12	2062	c.1645A>G	c.(1645-1647)Aca>Gca	p.T549A	PLAA_ENST00000520884.1_Missense_Mutation_p.T549A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	549	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATATTTGTGTAGGGTTTGCT	0.343																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1645-1647)Aca>Gca		phospholipase A2-activating protein							90.0	90.0	90.0					9																	26910348		2202	4299	6501	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26910348T>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1645A>G	9.37:g.26910348T>C	ENSP00000380460:p.Thr549Ala					PLAA_ENST00000520884.1_Missense_Mutation_p.T549A	p.T549A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	12	2062	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	549			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1645A>G	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.81|10.81	1.454264|1.454264	0.26161|0.26161	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.54866|.	0.55;0.72|.	5.51|5.51	4.38|4.38	0.52667|0.52667	PUL (2);|.	0.117369|.	0.64402|.	D|.	0.000007|.	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.20685|0.20685	0.6|0.6	0.40317|0.40317	D|D	0.978782|0.978782	B;B|.	0.09022|.	0.002;0.0|.	B;B|.	0.15052|.	0.012;0.003|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.10111|.	T|.	0.7|.	-12.9958|-12.9958	6.1636|6.1636	0.20378|0.20378	0.1435:0.0753:0.0:0.7813|0.1435:0.0753:0.0:0.7813	.|.	549;549|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	A|C	549|221;75	ENSP00000380460:T549A;ENSP00000429372:T549A|.	ENSP00000380460:T549A|.	T|Y	-|-	1|2	0|0	PLAA|PLAA	26900348|26900348	0.922000|0.922000	0.31269|0.31269	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.034000|1.034000	0.30204|0.30204	2.085000|2.085000	0.62840|0.62840	0.528000|0.528000	0.53228|0.53228	ACA|TAC		0.343	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		8	332	0	0	0	1	0	8	332				
RHOBTB2	23221	broad.mit.edu	37	8	22864647	22864647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864647C>A	ENST00000251822.6	+	5	1426	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	297	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGACCTGTTCCTCATGGACCT	0.627																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(889-891)Ctc>Atc		Rho-related BTB domain containing 2							82.0	83.0	83.0					8																	22864647		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864647C>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.889C>A	8.37:g.22864647C>A	ENSP00000251822:p.Leu297Ile					RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I	p.L297I	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1426	+		Prostate(55;0.0513)|Breast(100;0.214)	297			BTB 1.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.889C>A	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209694	0.39003	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09817	2.94;2.95;2.95	5.34	4.46	0.54185	BTB/POZ-like (2);BTB/POZ fold (2);	0.167226	0.52532	D	0.000062	T	0.12347	0.0300	L	0.48642	1.525	0.39048	D	0.960263	B;B;B	0.17852	0.024;0.024;0.024	B;B;B	0.23716	0.048;0.033;0.048	T	0.04294	-1.0962	10	0.49607	T	0.09	.	12.4783	0.55827	0.0:0.9185:0.0:0.0815	.	304;297;319	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	I	319;304;297	ENSP00000427926:L319I;ENSP00000429141:L304I;ENSP00000251822:L297I	ENSP00000251822:L297I	L	+	1	0	RHOBTB2	22920592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.235000	0.32671	1.224000	0.43551	0.655000	0.94253	CTC		0.627	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			130	558	1	0	9.0444e-51	1	1.12123e-50	130	558				
PNRC1	10957	broad.mit.edu	37	6	89790706	89790706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89790706C>T	ENST00000336032.3	+	1	210	c.93C>T	c.(91-93)gcC>gcT	p.A31A	RP11-63L7.5_ENST00000606729.1_RNA|PNRC1_ENST00000354922.3_5'Flank|PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		ACTTTGGGGCCCTCCCGATGG	0.677										Multiple Myeloma(7;0.094)																												ENST00000336032.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(91-93)gcC>gcT		proline-rich nuclear receptor coactivator 1							42.0	47.0	46.0					6																	89790706		2203	4300	6503	SO:0001819	synonymous_variant	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89790706C>T	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.93C>T	6.37:g.89790706C>T		Multiple Myeloma(7;0.094)				PNRC1_ENST00000369472.1_Intron	p.A31A	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	1	210	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	31					B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Silent	SNP	ENST00000336032.3	37	c.93C>T	CCDS5018.1																																																																																				0.677	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		66	290	0	0	0	1	0	66	290				
SPA17	53340	broad.mit.edu	37	11	124545184	124545184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124545184C>T	ENST00000532692.1	+	1	1445	c.24C>T	c.(22-24)acC>acT	p.T8T	SPA17_ENST00000227135.2_Silent_p.T8T|SIAE_ENST00000545756.1_5'Flank|SIAE_ENST00000263593.3_5'Flank|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	8					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCTCCAACACCCACTACCGAA	0.418																																						ENST00000532692.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5						c.(22-24)acC>acT		sperm autoantigenic protein 17							111.0	107.0	108.0					11																	124545184		2201	4299	6500	SO:0001819	synonymous_variant	53340				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	g.chr11:124545184C>T	AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.24C>T	11.37:g.124545184C>T						SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Silent_p.T8T	p.T8T			Q15506	SP17_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)	1	1445	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	8					B2R4F2|Q9BXF7	Silent	SNP	ENST00000532692.1	37	c.24C>T	CCDS8450.1																																																																																				0.418	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	NM_017425		71	449	0	0	0	1	0	71	449				
LPP	4026	broad.mit.edu	37	3	188584050	188584050	+	Silent	SNP	C	C	T	rs138205223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188584050C>T	ENST00000312675.4	+	9	1719	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	LPP_ENST00000543006.1_Silent_p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	491	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCGAGCCACCGGGAAGGCCT	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		20418	0.0		0.0	False		,,,				2504	0.0					ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1471-1473)acC>acT		LIM domain containing preferred translocation partner in lipoma		C	,,	2,4404	4.2+/-10.8	0,2,2201	172.0	146.0	155.0		1473,1032,1473	-6.2	0.9	3	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	491/613,344/466,491/613	188584050	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188584050C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1473C>T	3.37:g.188584050C>T						LPP_ENST00000543006.1_Silent_p.T491T	p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	9	1719	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	491			LIM zinc-binding 2.		A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.1473C>T	CCDS3291.1																																																																																				0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		53	348	0	0	0	1	0	53	348				
SKI	6497	broad.mit.edu	37	1	2160862	2160862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160862C>T	ENST00000378536.4	+	1	729	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	219					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCAGCGTCCGCGTGTACCACG	0.706																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(655-657)cgC>cgT		v-ski avian sarcoma viral oncogene homolog							12.0	14.0	13.0					1																	2160862		2175	4273	6448	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160862C>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.657C>T	1.37:g.2160862C>T							p.R219R	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	729	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		219					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.657C>T	CCDS39.1																																																																																				0.706	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		4	99	0	0	0	1	0	4	99				
IFI27	3429	broad.mit.edu	37	14	94582203	94582203	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94582203G>T	ENST00000555744.1	+	4	386	c.198G>T	c.(196-198)aaG>aaT	p.K66N	IFI27_ENST00000444961.1_Missense_Mutation_p.K69N|IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	66					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TAGCAGCCAAGATGATGTCCG	0.627																																					GBM(128;797 1667 20895 29868 47129)	ENST00000555744.1																			0				breast(1)|lung(3)	4						c.(196-198)aaG>aaT		interferon, alpha-inducible protein 27							38.0	30.0	33.0					14																	94582203		2203	4299	6502	SO:0001583	missense	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94582203G>T	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.198G>T	14.37:g.94582203G>T	ENSP00000451956:p.Lys66Asn					IFI27_ENST00000444961.1_Missense_Mutation_p.K69N|IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N	p.K66N			P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	4	386	+			66					Q53YA6|Q6IEC1|Q96BK3	Missense_Mutation	SNP	ENST00000555744.1	37	c.198G>T	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859737	0.17178	.	.	ENSG00000165949	ENST00000444961;ENST00000448882;ENST00000557098;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	3.52	1.67	0.24075	.	0.553031	0.19684	N	0.108458	T	0.53351	0.1791	M	0.83692	2.655	0.39283	D	0.964603	D	0.63880	0.993	D	0.63192	0.912	T	0.55186	-0.8180	10	0.66056	D	0.02	.	5.5879	0.17285	0.2502:0.0:0.7498:0.0	.	66	P40305	IFI27_HUMAN	N	69;69;21;66;66;56;66	ENSP00000413536:K69N;ENSP00000410901:K69N;ENSP00000450753:K21N;ENSP00000451875:K66N;ENSP00000298902:K66N;ENSP00000452560:K56N;ENSP00000451956:K66N	ENSP00000298902:K66N	K	+	3	2	IFI27	93651956	0.001000	0.12720	0.997000	0.53966	0.032000	0.12392	-0.770000	0.04705	0.475000	0.27415	0.563000	0.77884	AAG		0.627	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532		11	60	1	0	1.08611e-07	1	1.12939e-07	11	60				
TRHR	7201	broad.mit.edu	37	8	110100072	110100072	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110100072G>T	ENST00000518632.1	+	2	682	c.331G>T	c.(331-333)Gca>Tca	p.A111S	TRHR_ENST00000311762.2_Missense_Mutation_p.A111S			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	111					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGGAATTAATGCATCCTCTTG	0.453																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(331-333)Gca>Tca		thyrotropin-releasing hormone receptor							137.0	125.0	129.0					8																	110100072		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100072G>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.331G>T	8.37:g.110100072G>T	ENSP00000430711:p.Ala111Ser					TRHR_ENST00000311762.2_Missense_Mutation_p.A111S	p.A111S			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	682	+			111					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.331G>T	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576023	0.65878	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.75154	-0.91;-0.91	6.06	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.093441	0.64402	D	0.000001	T	0.80732	0.4679	M	0.74258	2.255	0.47476	D	0.999437	P	0.50443	0.935	P	0.57620	0.824	T	0.80489	-0.1360	10	0.87932	D	0	-15.3417	7.0669	0.25157	0.14:0.0:0.7194:0.1405	.	111	P34981	TRFR_HUMAN	S	111	ENSP00000430711:A111S;ENSP00000309818:A111S	ENSP00000309818:A111S	A	+	1	0	TRHR	110169248	1.000000	0.71417	0.802000	0.32245	0.998000	0.95712	9.860000	0.99555	0.883000	0.36040	0.655000	0.94253	GCA		0.453	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			36	394	1	0	4.34311e-12	1	4.6502e-12	36	394				
TJP3	27134	broad.mit.edu	37	19	3747908	3747908	+	Silent	SNP	C	C	T	rs565405323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3747908C>T	ENST00000541714.2	+	19	2901	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	TJP3_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000382008.3_Silent_p.G827G|TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000589378.1_Silent_p.G822G|TJP3_ENST00000587686.1_Silent_p.G832G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	813					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCGAGGGCGGCGCGTACA	0.692																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(2437-2439)ggC>ggT		tight junction protein 3							36.0	32.0	33.0					19																	3747908		2202	4299	6501	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3747908C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2439C>T	19.37:g.3747908C>T						TJP3_ENST00000382008.3_Silent_p.G827G|TJP3_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000587686.1_Silent_p.G832G|TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000589378.1_Silent_p.G822G	p.G813G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2901	+			827					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.2439C>T	CCDS32873.2																																																																																				0.692	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			39	200	0	0	0	1	0	39	200				
FBXO27	126433	broad.mit.edu	37	19	39516062	39516062	+	Missense_Mutation	SNP	G	G	A	rs369267515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39516062G>A	ENST00000292853.4	-	6	960	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C|FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	281						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGGACAGACGGACTCGCACG	0.587																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(841-843)Cgt>Tgt		F-box protein 27		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	103.0	109.0		841	-2.6	0.0	19		109	0,8600		0,0,4300	no	missense	FBXO27	NM_178820.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	281/284	39516062	1,13005	2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39516062G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.841C>T	19.37:g.39516062G>A	ENSP00000292853:p.Arg281Cys					FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C|FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C	p.R281C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	960	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		281					Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.841C>T	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482081	0.44147	2.27E-4	0.0	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.37235	1.21;1.21	3.41	-2.62	0.06152	.	1.761420	0.03259	N	0.183013	T	0.21881	0.0527	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20107	-1.0285	10	0.51188	T	0.08	-15.2278	3.283	0.06922	0.4933:0.0:0.3144:0.1923	.	281	Q8NI29	FBX27_HUMAN	C	281	ENSP00000292853:R281C;ENSP00000437662:R281C	ENSP00000292853:R281C	R	-	1	0	FBXO27	44207902	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.523000	0.06230	-0.420000	0.07427	-0.339000	0.08088	CGT		0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			69	434	0	0	0	1	0	69	434				
NELL2	4753	broad.mit.edu	37	12	44913995	44913995	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913995A>G	ENST00000429094.2	-	19	2697	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000437801.2_Silent_p.C781C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000551601.1_Silent_p.C683C|NELL2_ENST00000395487.2_Silent_p.C730C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	731	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAGGGGCCAACAATCAACTT	0.557																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2191-2193)tgT>tgC		NEL-like 2 (chicken)							53.0	44.0	47.0					12																	44913995		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913995A>G	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2193T>C	12.37:g.44913995A>G						NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000551601.1_Silent_p.C683C|NELL2_ENST00000395487.2_Silent_p.C730C|NELL2_ENST00000437801.2_Silent_p.C781C	p.C731C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2697	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	731			VWFC 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.2193T>C	CCDS8746.1																																																																																				0.557	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		12	97	0	0	0	1	0	12	97				
PLEKHA7	144100	broad.mit.edu	37	11	16863183	16863183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16863183G>T	ENST00000355661.3	-	9	793	c.783C>A	c.(781-783)taC>taA	p.Y261*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Y261*|RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	261	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGCACTGAAGTAGTAGGTCC	0.577																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(781-783)taC>taA		pleckstrin homology domain containing, family A member 7							120.0	98.0	106.0					11																	16863183		2200	4294	6494	SO:0001587	stop_gained	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16863183G>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.783C>A	11.37:g.16863183G>T	ENSP00000347883:p.Tyr261*					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Y261*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*	p.Y261*			Q6IQ23	PKHA7_HUMAN			9	793	-			261			PH.		B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	37	c.783C>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775681	0.96922	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	.	.	.	5.16	1.26	0.21427	.	0.050847	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.6783	10.5457	0.45058	0.2786:0.0:0.7214:0.0	.	.	.	.	X	261	.	ENSP00000347883:Y261X	Y	-	3	2	PLEKHA7	16819759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.571000	0.53841	0.440000	0.26502	0.650000	0.86243	TAC		0.577	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		85	318	1	0	9.35349e-44	1	1.14279e-43	85	318				
STAB1	23166	broad.mit.edu	37	3	52542317	52542317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52542317G>A	ENST00000321725.6	+	21	2253	c.2177G>A	c.(2176-2178)gGg>gAg	p.G726E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	726					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTTTTTTCGGGCCTGACTGC	0.582																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2176-2178)gGg>gAg		stabilin 1							119.0	115.0	116.0					3																	52542317		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52542317G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2177G>A	3.37:g.52542317G>A	ENSP00000312946:p.Gly726Glu						p.G726E	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	21	2253	+			726					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.2177G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027530	0.93518	.	.	ENSG00000010327	ENST00000321725	D	0.87029	-2.2	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	M	0.94142	3.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96418	0.9309	10	0.87932	D	0	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	726;726	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	726	ENSP00000312946:G726E	ENSP00000312946:G726E	G	+	2	0	STAB1	52517357	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.247000	0.89830	2.697000	0.92050	0.563000	0.77884	GGG		0.582	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		71	359	0	0	0	1	0	71	359				
RHOF	54509	broad.mit.edu	37	12	122219028	122219028	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122219028G>A	ENST00000267205.2	-	3	925	c.297C>T	c.(295-297)gaC>gaT	p.D99D	TMEM120B_ENST00000538055.1_3'UTR|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537171.1_Silent_p.D99D|RHOF_ENST00000537265.1_De_novo_Start_OutOfFrame	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	99					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GATTCATGACGTCATAGCAGA	0.642																																						ENST00000267205.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(295-297)gaC>gaT		ras homolog family member F (in filopodia)							134.0	123.0	127.0					12																	122219028		2203	4300	6503	SO:0001819	synonymous_variant	54509				actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity	g.chr12:122219028G>A	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.297C>T	12.37:g.122219028G>A						TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_3'UTR	p.D99D	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)	3	925	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		99					Q8WVB1|Q9NXH6	Silent	SNP	ENST00000267205.2	37	c.297C>T	CCDS9222.1																																																																																				0.642	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			55	329	0	0	0	1	0	55	329				
CLIP1	6249	broad.mit.edu	37	12	122825825	122825825	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122825825C>T	ENST00000540338.1	-	10	1967	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	CLIP1_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000358808.2_Silent_p.K631K|CLIP1_ENST00000537178.1_Silent_p.K596K|CLIP1_ENST00000361654.4_Silent_p.K596K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	642					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGAAAGATACCTTCAGTTCTT	0.438																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1891-1893)aaG>aaA		CAP-GLY domain containing linker protein 1							144.0	139.0	140.0					12																	122825825		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825825C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1926G>A	12.37:g.122825825C>T						CLIP1_ENST00000537178.1_Silent_p.K596K|CLIP1_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000540338.1_Silent_p.K642K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000361654.4_Silent_p.K596K	p.K631K	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2047	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		642					A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.1893G>A	CCDS58285.1																																																																																				0.438	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		24	695	0	0	0	1	0	24	695				
GREB1	9687	broad.mit.edu	37	2	11777873	11777873	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11777873C>T	ENST00000381486.2	+	31	5678	c.5378C>T	c.(5377-5379)gCc>gTc	p.A1793V	GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V|GREB1_ENST00000396123.1_Missense_Mutation_p.A791V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1793						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTCGTGCCGGCCCAGTACATC	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5377-5379)gCc>gTc		growth regulation by estrogen in breast cancer 1							54.0	61.0	58.0					2																	11777873		2110	4213	6323	SO:0001583	missense	9687					integral to membrane		g.chr2:11777873C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5378C>T	2.37:g.11777873C>T	ENSP00000370896:p.Ala1793Val					GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V|GREB1_ENST00000396123.1_Missense_Mutation_p.A791V	p.A1793V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	31	5678	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1793					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5378C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953873	0.18431	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.22134	3.29;3.29;1.97	4.75	3.87	0.44632	.	0.253826	0.39210	N	0.001434	T	0.14700	0.0355	N	0.25647	0.755	0.37633	D	0.921731	B	0.06786	0.001	B	0.12837	0.008	T	0.09552	-1.0669	10	0.27785	T	0.31	-18.3019	12.3092	0.54920	0.0:0.9176:0.0:0.0823	.	1793	Q4ZG55	GREB1_HUMAN	V	1793;1793;791	ENSP00000370896:A1793V;ENSP00000234142:A1793V;ENSP00000379429:A791V	ENSP00000234142:A1793V	A	+	2	0	GREB1	11695324	1.000000	0.71417	0.991000	0.47740	0.830000	0.47004	4.544000	0.60691	2.186000	0.69663	0.557000	0.71058	GCC		0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		58	345	0	0	0	1	0	58	345				
CCP110	9738	broad.mit.edu	37	16	19547923	19547923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19547923G>A	ENST00000381396.5	+	4	1179	c.932G>A	c.(931-933)aGc>aAc	p.S311N	CCP110_ENST00000396212.2_Missense_Mutation_p.S311N|CCP110_ENST00000396208.2_Missense_Mutation_p.S311N	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	311					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAGCAAGCAGCATGAGTATG	0.413																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(931-933)aGc>aAc		centriolar coiled coil protein 110kDa							69.0	66.0	67.0					16																	19547923		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547923G>A	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.932G>A	16.37:g.19547923G>A	ENSP00000370803:p.Ser311Asn					CCP110_ENST00000396208.2_Missense_Mutation_p.S311N|CCP110_ENST00000381396.5_Missense_Mutation_p.S311N	p.S311N	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	1368	+			311					B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.932G>A	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720579	0.30503	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.20200	2.09;2.09;2.09	6.07	4.12	0.48240	.	0.159898	0.56097	N	0.000024	T	0.16300	0.0392	L	0.40543	1.245	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.14578	0.011;0.011	T	0.17289	-1.0374	10	0.37606	T	0.19	-0.1971	7.8014	0.29176	0.1759:0.0:0.7005:0.1235	.	311;311	O43303;O43303-2	CP110_HUMAN;.	N	311	ENSP00000379515:S311N;ENSP00000370803:S311N;ENSP00000379511:S311N	ENSP00000370803:S311N	S	+	2	0	CCP110	19455424	0.936000	0.31750	0.764000	0.31436	0.942000	0.58702	1.432000	0.34936	0.899000	0.36444	0.655000	0.94253	AGC		0.413	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		20	384	0	0	0	1	0	20	384				
DCHS1	8642	broad.mit.edu	37	11	6643477	6643477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643477C>T	ENST00000299441.3	-	21	9841	c.9430G>A	c.(9430-9432)Gca>Aca	p.A3144T	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000534644.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3144					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGCACCTGCCACACATGGC	0.657																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(9430-9432)Gca>Aca		dachsous cadherin-related 1							14.0	15.0	15.0					11																	6643477		2189	4273	6462	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643477C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9430G>A	11.37:g.6643477C>T	ENSP00000299441:p.Ala3144Thr					RP11-732A19.5_ENST00000526456.1_RNA	p.A3144T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9841	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3144					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.9430G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817471	0.50633	.	.	ENSG00000166341	ENST00000299441	T	0.53206	0.63	4.71	4.71	0.59529	.	0.000000	0.40302	N	0.001140	T	0.34571	0.0902	N	0.17474	0.49	0.42164	D	0.991615	P	0.47409	0.895	P	0.44518	0.452	T	0.08868	-1.0701	10	0.12103	T	0.63	.	16.3911	0.83541	0.0:1.0:0.0:0.0	.	3144	Q96JQ0	PCD16_HUMAN	T	3144	ENSP00000299441:A3144T	ENSP00000299441:A3144T	A	-	1	0	DCHS1	6600053	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.588000	0.82629	2.422000	0.82143	0.313000	0.20887	GCA		0.657	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		11	51	0	0	0	1	0	11	51				
EYA2	2139	broad.mit.edu	37	20	45633697	45633697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45633697C>T	ENST00000327619.5	+	4	646	c.272C>T	c.(271-273)gCa>gTa	p.A91V	EYA2_ENST00000317304.6_Missense_Mutation_p.A91V|EYA2_ENST00000357410.3_Missense_Mutation_p.A91V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	91					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACCTCCAGCACAAGCCTAT	0.552																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(271-273)gCa>gTa		eyes absent homolog 2 (Drosophila)							81.0	73.0	76.0					20																	45633697		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45633697C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.272C>T	20.37:g.45633697C>T	ENSP00000333640:p.Ala91Val					EYA2_ENST00000357410.3_Missense_Mutation_p.A91V|EYA2_ENST00000317304.6_Missense_Mutation_p.A91V	p.A91V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			4	646	+		Myeloproliferative disorder(115;0.0241)	91					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.272C>T	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317035	0.81469	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91894	-2.93;-2.53;-2.85;-0.74	5.53	4.59	0.56863	.	0.130472	0.56097	D	0.000026	D	0.92234	0.7537	L	0.56769	1.78	0.46298	D	0.998979	D;P;P;P	0.54964	0.969;0.787;0.825;0.825	P;B;B;B	0.54210	0.745;0.23;0.313;0.294	D	0.91621	0.5311	10	0.62326	D	0.03	-18.7495	8.2618	0.31790	0.0:0.6532:0.2645:0.0823	.	91;91;91;91	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	V	91;91;91;91;44	ENSP00000333640:A91V;ENSP00000349986:A91V;ENSP00000321590:A91V;ENSP00000395427:A44V	ENSP00000321590:A91V	A	+	2	0	EYA2	45067104	1.000000	0.71417	0.924000	0.36721	0.960000	0.62799	3.109000	0.50345	1.344000	0.45657	0.561000	0.74099	GCA		0.552	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		46	267	0	0	0	1	0	46	267				
FOLR1	2348	broad.mit.edu	37	11	71906964	71906964	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71906964G>A	ENST00000393679.1	+	5	953	c.517G>A	c.(517-519)Gct>Act	p.A173T	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T|FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	173					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CGCAGTGGGAGCTGCCTGCCA	0.527																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(517-519)Gct>Act		folate receptor 1 (adult)							99.0	96.0	97.0					11																	71906964		2200	4293	6493	SO:0001583	missense	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71906964G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.517G>A	11.37:g.71906964G>A	ENSP00000377284:p.Ala173Thr					FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T|FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T|RP11-807H22.7_ENST00000378140.3_RNA	p.A173T			P15328	FOLR1_HUMAN			5	953	+			173					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	c.517G>A	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	9.244	1.039153	0.19669	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.11	2.19	0.27852	Folate receptor-like (1);	0.469100	0.24499	N	0.037984	T	0.67804	0.2932	L	0.41710	1.295	0.20074	N	0.999932	P	0.40578	0.722	P	0.45946	0.498	T	0.54443	-0.8293	10	0.20519	T	0.43	-6.2945	3.6157	0.08077	0.2076:0.0:0.5941:0.1983	.	173	P15328	FOLR1_HUMAN	T	173	ENSP00000308137:A173T;ENSP00000377286:A173T;ENSP00000377284:A173T;ENSP00000377281:A173T	ENSP00000308137:A173T	A	+	1	0	FOLR1	71584612	0.000000	0.05858	0.319000	0.25293	0.014000	0.08584	0.030000	0.13688	0.473000	0.27368	-0.311000	0.09066	GCT		0.527	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		88	467	0	0	0	1	0	88	467				
ZNF329	79673	broad.mit.edu	37	19	58640736	58640736	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58640736T>C	ENST00000598312.1	-	4	368	c.135A>G	c.(133-135)ggA>ggG	p.G45G	ZNF329_ENST00000358067.4_Silent_p.G45G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCCTCAAGTGTCCCTCCTGGT	0.473																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(133-135)ggA>ggG		zinc finger protein 329							161.0	149.0	153.0					19																	58640736		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640736T>C	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.135A>G	19.37:g.58640736T>C						ZNF329_ENST00000358067.4_Silent_p.G45G	p.G45G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	368	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	45					B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.135A>G	CCDS12972.1																																																																																				0.473	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		113	571	0	0	0	1	0	113	571				
STAT1	6772	broad.mit.edu	37	2	191850364	191850364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191850364G>T	ENST00000361099.3	-	15	1631	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D|STAT1_ENST00000392322.3_Missense_Mutation_p.A415D	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	415					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TCTGGTGCCAGCATTTTTCTG	0.413																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1243-1245)gCt>gAt		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						167.0	150.0	156.0					2																	191850364		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191850364G>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1244C>A	2.37:g.191850364G>T	ENSP00000354394:p.Ala415Asp					STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D|STAT1_ENST00000392322.3_Missense_Mutation_p.A415D	p.A415D	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		15	1631	-			415					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1244C>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904513	0.72868	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.11	5.11	0.69529	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.054833	0.64402	D	0.000001	D	0.89722	0.6797	M	0.69248	2.105	0.80722	D	1	P;P	0.44734	0.842;0.622	P;B	0.51615	0.675;0.222	D	0.90598	0.4542	10	0.87932	D	0	-18.3653	12.9372	0.58322	0.0792:0.0:0.9208:0.0	.	415;415	P42224-2;P42224	.;STAT1_HUMAN	D	415;415;415;417	ENSP00000354394:A415D;ENSP00000386244:A415D;ENSP00000376136:A415D;ENSP00000376137:A417D	ENSP00000354394:A415D	A	-	2	0	STAT1	191558609	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	6.286000	0.72665	2.535000	0.85469	0.655000	0.94253	GCT		0.413	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		74	218	1	0	1.78839e-46	1	2.19748e-46	74	218				
SLC45A4	57210	broad.mit.edu	37	8	142228727	142228727	+	Missense_Mutation	SNP	C	C	T	rs371771709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228727C>T	ENST00000024061.3	-	4	1166	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	SLC45A4_ENST00000519067.1_Missense_Mutation_p.A287T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTAGGAGGCGTCGTGGAAG	0.672																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(859-861)Gcc>Acc		solute carrier family 45, member 4		C	THR/ALA	0,4406		0,0,2203	45.0	48.0	47.0		859	1.3	1.0	8		47	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC45A4	NM_001080431.1	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	287/799	142228727	1,13003	2203	4299	6502	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228727C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.859G>A	8.37:g.142228727C>T	ENSP00000024061:p.Ala287Thr					SLC45A4_ENST00000024061.3_Missense_Mutation_p.A287T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T	p.A287T			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1162	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		338					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.859G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031900	0.35893	0.0	1.16E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15139	2.48;2.47;2.47;2.45	5.75	1.28	0.21552	.	0.799963	0.11527	N	0.555059	T	0.10852	0.0265	L	0.47716	1.5	0.27514	N	0.951602	B;B;B	0.29037	0.024;0.231;0.01	B;B;B	0.14023	0.003;0.01;0.004	T	0.29822	-0.9999	10	0.17369	T	0.5	-17.9139	3.3128	0.07022	0.2097:0.5307:0.0963:0.1634	.	338;287;287	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	287;338;280;287	ENSP00000429059:A287T;ENSP00000428137:A338T;ENSP00000400799:A280T;ENSP00000024061:A287T	ENSP00000024061:A287T	A	-	1	0	SLC45A4	142297909	0.012000	0.17670	0.955000	0.39395	0.818000	0.46254	-0.201000	0.09464	0.663000	0.31027	0.555000	0.69702	GCC		0.672	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		73	462	0	0	0	1	0	73	462				
STOX1	219736	broad.mit.edu	37	10	70645435	70645435	+	Missense_Mutation	SNP	T	T	C	rs375412611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70645435T>C	ENST00000298596.6	+	3	1966	c.1883T>C	c.(1882-1884)tTt>tCt	p.F628S	STOX1_ENST00000399169.4_Missense_Mutation_p.F628S|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	628						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CATTCCCACTTTGACAAATTA	0.443																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1882-1884)tTt>tCt		storkhead box 1							132.0	122.0	125.0					10																	70645435		1920	4147	6067	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645435T>C	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1883T>C	10.37:g.70645435T>C	ENSP00000298596:p.Phe628Ser					STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.F628S|STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399165.4_Intron	p.F628S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	1966	+			628					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1883T>C	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	T	7.538	0.660004	0.14645	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.72615	-0.67;-0.67;-0.35	6.07	1.24	0.21308	.	0.694453	0.14722	N	0.302274	T	0.57388	0.2050	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.40534	-0.9558	10	0.25106	T	0.35	.	4.5658	0.12186	0.0:0.2893:0.169:0.5417	.	628	Q6ZVD7	STOX1_HUMAN	S	628;628;518	ENSP00000382121:F628S;ENSP00000298596:F628S;ENSP00000394509:F518S	ENSP00000298596:F628S	F	+	2	0	STOX1	70315441	0.000000	0.05858	0.440000	0.26846	0.966000	0.64601	-0.170000	0.09897	0.524000	0.28502	0.528000	0.53228	TTT		0.443	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		28	603	0	0	0	1	0	28	603				
ELMOD3	84173	broad.mit.edu	37	2	85598230	85598230	+	Nonsense_Mutation	SNP	C	C	T	rs562825417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85598230C>T	ENST00000409890.2	+	9	1049	c.382C>T	c.(382-384)Cga>Tga	p.R128*	RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000315658.7_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	128					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GCCAACTATTCGAAGGACTGG	0.547																																						ENST00000315658.7																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.(382-384)Cga>Tga		ELMO/CED-12 domain containing 3							115.0	121.0	119.0					2																	85598230		2203	4300	6503	SO:0001587	stop_gained	84173				phagocytosis	cytoskeleton		g.chr2:85598230C>T	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.382C>T	2.37:g.85598230C>T	ENSP00000386304:p.Arg128*					ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409890.2_Nonsense_Mutation_p.R128*	p.R128*	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN			7	641	+			128					B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Nonsense_Mutation	SNP	ENST00000409890.2	37	c.382C>T	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	42	9.801465	0.99267	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	.	.	.	5.82	5.82	0.92795	.	0.188144	0.46442	D	0.000292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-7.6175	17.5939	0.88005	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000318264:R128X	R	+	1	2	ELMOD3	85451741	1.000000	0.71417	0.983000	0.44433	0.954000	0.61252	6.823000	0.75282	2.760000	0.94817	0.655000	0.94253	CGA		0.547	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		38	1019	0	0	0	1	0	38	1019				
NBEAL1	65065	broad.mit.edu	37	2	204032000	204032000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204032000C>A	ENST00000449802.1	+	37	6160	c.5827C>A	c.(5827-5829)Ctc>Atc	p.L1943I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1943										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGATTCATCTCCGGCGTTA	0.363																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5827-5829)Ctc>Atc		neurobeachin-like 1							129.0	118.0	121.0					2																	204032000		1813	4084	5897	SO:0001583	missense	65065						binding	g.chr2:204032000C>A	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5827C>A	2.37:g.204032000C>A	ENSP00000399903:p.Leu1943Ile						p.L1943I	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			37	6160	+			1943					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5827C>A	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734574	0.69189	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56275	0.47	5.29	-1.69	0.08186	PH-BEACH domain (1);	0.144540	0.46758	D	0.000266	T	0.67268	0.2875	M	0.81497	2.545	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.66200	-0.5983	10	0.26408	T	0.33	.	12.7381	0.57236	0.0:0.2437:0.0:0.7563	.	1943;1932	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	I	1943	ENSP00000399903:L1943I	ENSP00000344985:L1943I	L	+	1	0	NBEAL1	203740245	0.839000	0.29477	0.359000	0.25824	0.897000	0.52465	0.416000	0.21198	-0.285000	0.09089	0.563000	0.77884	CTC		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			94	480	1	0	9.24773e-40	1	1.11906e-39	94	480				
RYR1	6261	broad.mit.edu	37	19	39058490	39058490	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39058490C>A	ENST00000359596.3	+	93	13592	c.13592C>A	c.(13591-13593)cCt>cAt	p.P4531H	RYR1_ENST00000355481.4_Missense_Mutation_p.P4526H|RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4531	Pro-rich.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCACCCCCTCCAAAGAAG	0.587																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(13576-13578)cCt>cAt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						71.0	74.0	73.0					19																	39058490		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39058490C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13592C>A	19.37:g.39058490C>A	ENSP00000352608:p.Pro4531His					RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H|RYR1_ENST00000359596.3_Missense_Mutation_p.P4531H	p.P4526H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		92	13708	+	all_cancers(60;7.91e-06)		4531			Pro-rich.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.13577C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.190062	0.21954	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93076	-3.16;-3.16;-3.16	5.06	2.91	0.33838	Ryanodine Receptor TM 4-6 (1);	0.366933	0.23894	U	0.043517	D	0.89248	0.6661	L	0.60455	1.87	0.22412	N	0.999127	B;B	0.12630	0.004;0.006	B;B	0.09377	0.003;0.004	T	0.76446	-0.2956	10	0.23891	T	0.37	.	7.9499	0.30008	0.1595:0.7556:0.0:0.0849	.	4526;4531	P21817-2;P21817	.;RYR1_HUMAN	H	4531;4526;4526	ENSP00000352608:P4531H;ENSP00000347667:P4526H;ENSP00000354254:P4526H	ENSP00000347667:P4526H	P	+	2	0	RYR1	43750330	0.577000	0.26708	0.987000	0.45799	0.855000	0.48748	0.837000	0.27558	0.711000	0.32018	0.491000	0.48974	CCT		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			73	316	1	0	6.5469e-37	1	7.85029e-37	73	316				
LRRC16A	55604	broad.mit.edu	37	6	25495362	25495362	+	Missense_Mutation	SNP	C	C	T	rs370215465		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25495362C>T	ENST00000329474.6	+	16	1612	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	415					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTACCTCCATCTTTCAAGCAA	0.373																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1243-1245)tCt>tTt		leucine rich repeat containing 16A							131.0	124.0	126.0					6																	25495362		1838	4087	5925	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25495362C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1244C>T	6.37:g.25495362C>T	ENSP00000331983:p.Ser415Phe						p.S415F	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			16	1612	+			415					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1244C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913803	0.92178	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54279	0.58	5.4	5.4	0.78164	.	0.101931	0.64402	D	0.000001	T	0.67599	0.2910	M	0.74467	2.265	0.80722	D	1	D;D;D	0.71674	0.993;0.996;0.998	P;P;D	0.63703	0.877;0.851;0.917	T	0.70550	-0.4841	10	0.72032	D	0.01	.	19.5422	0.95278	0.0:1.0:0.0:0.0	.	415;415;415	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	F	415	ENSP00000331983:S415F	ENSP00000331983:S415F	S	+	2	0	LRRC16A	25603341	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	6.980000	0.76160	2.695000	0.91970	0.561000	0.74099	TCT		0.373	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		40	238	0	0	0	1	0	40	238				
RCC2	55920	broad.mit.edu	37	1	17748709	17748709	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17748709C>A	ENST00000375436.4	-	6	921	c.734G>T	c.(733-735)aGc>aTc	p.S245I	RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	245					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTGCGCGGGGCTGGGAACAGC	0.512																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(733-735)aGc>aTc		regulator of chromosome condensation 2							69.0	88.0	81.0					1																	17748709		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17748709C>A		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.734G>T	1.37:g.17748709C>A	ENSP00000364585:p.Ser245Ile					RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	p.S245I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	6	921	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	245					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.734G>T	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849906	0.71603	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.83914	-1.78;-1.78	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	L	0.51422	1.61	0.80722	D	1	D	0.56521	0.976	P	0.59357	0.856	D	0.85421	0.1143	10	0.35671	T	0.21	-32.6291	18.1041	0.89515	0.0:1.0:0.0:0.0	.	245	Q9P258	RCC2_HUMAN	I	245	ENSP00000364585:S245I;ENSP00000364582:S245I	ENSP00000364582:S245I	S	-	2	0	RCC2	17621296	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.253000	0.43205	2.711000	0.92665	0.561000	0.74099	AGC		0.512	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		59	526	1	0	6.26901e-30	1	7.33784e-30	59	526				
GFRA1	2674	broad.mit.edu	37	10	117884933	117884933	+	Missense_Mutation	SNP	C	C	T	rs376230694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117884933C>T	ENST00000355422.6	-	6	1119	c.569G>A	c.(568-570)cGc>cAc	p.R190H	GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R185H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	190					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGCACTTGCGGCGGTTGCA	0.607																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(553-555)cGc>cAc		GDNF family receptor alpha 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	62.0	66.0		554,569,554	5.8	1.0	10		66	0,8600		0,0,4300	no	missense,missense,missense	GFRA1	NM_001145453.1,NM_005264.4,NM_145793.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	185/461,190/466,185/461	117884933	1,13005	2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884933C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.569G>A	10.37:g.117884933C>T	ENSP00000347591:p.Arg190His					GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R190H	p.R185H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	921	-		Lung NSC(174;0.21)	190					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.554G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273572	0.95459	2.27E-4	0.0	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.63913	-0.07;-0.07	5.85	5.85	0.93711	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.965	T	0.71411	-0.4601	10	0.36615	T	0.2	-33.0593	20.1775	0.98187	0.0:1.0:0.0:0.0	.	190;185	P56159;P56159-2	GFRA1_HUMAN;.	H	190;185;185;69;185	ENSP00000358239:R185H;ENSP00000442179:R69H	ENSP00000347591:R185H	R	-	2	0	GFRA1	117874923	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.851000	0.62896	2.771000	0.95319	0.561000	0.74099	CGC		0.607	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		53	182	0	0	0	1	0	53	182				
GMPR	2766	broad.mit.edu	37	6	16254937	16254937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16254937C>T	ENST00000259727.4	+	4	550	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	146					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAAACTTGTCCGTGCCAAATT	0.448																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(436-438)Cgt>Tgt		guanosine monophosphate reductase							179.0	167.0	171.0					6																	16254937		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16254937C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.436C>T	6.37:g.16254937C>T	ENSP00000259727:p.Arg146Cys						p.R146C	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			4	550	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	146					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.436C>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664263	0.88251	.	.	ENSG00000137198	ENST00000259727	T	0.80824	-1.42	5.65	5.65	0.86999	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.047756	0.85682	D	0.000000	D	0.94238	0.8150	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96190	0.9137	10	0.87932	D	0	-2.5434	19.7405	0.96228	0.0:1.0:0.0:0.0	.	146	P36959	GMPR1_HUMAN	C	146	ENSP00000259727:R146C	ENSP00000259727:R146C	R	+	1	0	GMPR	16362916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.655000	0.90218	0.655000	0.94253	CGT		0.448	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			108	509	0	0	0	1	0	108	509				
IRS2	8660	broad.mit.edu	37	13	110436549	110436549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110436549C>T	ENST00000375856.3	-	1	2366	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	618					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGAGAGGACGCGGGGCAGGAC	0.692																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1852-1854)Gcg>Acg		insulin receptor substrate 2							15.0	18.0	17.0					13																	110436549		2183	4292	6475	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436549C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1852G>A	13.37:g.110436549C>T	ENSP00000365016:p.Ala618Thr						p.A618T	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2366	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	618					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.1852G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151651	0.06585	.	.	ENSG00000185950	ENST00000375856	T	0.20598	2.06	3.19	3.19	0.36642	.	0.347136	0.30177	U	0.010222	T	0.36908	0.0984	L	0.56769	1.78	0.31520	N	0.66251	D	0.89917	1.0	D	0.73708	0.981	T	0.25398	-1.0133	10	0.19147	T	0.46	-15.2542	12.6661	0.56844	0.0:1.0:0.0:0.0	.	618	Q9Y4H2	IRS2_HUMAN	T	618	ENSP00000365016:A618T	ENSP00000365016:A618T	A	-	1	0	IRS2	109234550	0.104000	0.21937	0.357000	0.25798	0.775000	0.43874	0.252000	0.18278	2.072000	0.62099	0.549000	0.68633	GCG		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		8	81	0	0	0	1	0	8	81				
SPSB4	92369	broad.mit.edu	37	3	140785480	140785480	+	Silent	SNP	C	C	T	rs557176968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785480C>T	ENST00000310546.2	+	2	1278	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	178	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						ACTCGCTGCTCGTGGTGCTGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.001					ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(532-534)ctC>ctT		splA/ryanodine receptor domain and SOCS box containing 4							37.0	34.0	35.0					3																	140785480		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785480C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.534C>T	3.37:g.140785480C>T							p.L178L	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1278	+			178			B30.2/SPRY.			Silent	SNP	ENST00000310546.2	37	c.534C>T	CCDS3115.1																																																																																				0.667	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		22	97	0	0	0	1	0	22	97				
PHIP	55023	broad.mit.edu	37	6	79724895	79724895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79724895C>T	ENST00000275034.4	-	15	1595	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	476					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAGGATCGAACGGGTGTGGTT	0.353																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1426-1428)ccG>ccA		pleckstrin homology domain interacting protein							102.0	93.0	96.0					6																	79724895		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79724895C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1428G>A	6.37:g.79724895C>T							p.P476P	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	15	1595	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	476					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.1428G>A	CCDS4987.1																																																																																				0.353	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			35	202	0	0	0	1	0	35	202				
SENP8	123228	broad.mit.edu	37	15	72432323	72432323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432323C>T	ENST00000542035.2	+	2	692	c.359C>T	c.(358-360)tCc>tTc	p.S120F	RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	120	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CATTATGATTCCCATAGCAGG	0.433																																						ENST00000544411.1																			0				breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						c.(358-360)tCc>tTc		SUMO/sentrin specific peptidase family member 8							58.0	62.0	61.0					15																	72432323		2199	4297	6496	SO:0001583	missense	123228				proteolysis		cysteine-type peptidase activity|protein binding	g.chr15:72432323C>T	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"""NEDD8-specific protease 1"", ""sentrin/SUMO-specific protease SENP8"", ""deneddylase 1"""	608659	"""protease, cysteine, 2 (NEDD8 specific)"", ""SUMO/sentrin specific protease family member 8"""	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.359C>T	15.37:g.72432323C>T	ENSP00000446057:p.Ser120Phe					SENP8_ENST00000542035.2_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F	p.S120F	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN			3	846	+			120			Protease.		Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	37	c.359C>T	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892924	0.91889	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92186	0.5755	10	0.87932	D	0	-17.7189	19.8681	0.96839	0.0:1.0:0.0:0.0	.	120	Q96LD8	SENP8_HUMAN	F	120	ENSP00000446057:S120F;ENSP00000441753:S120F;ENSP00000340505:S120F;ENSP00000439415:S120F	ENSP00000340505:S120F	S	+	2	0	SENP8	70219377	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.684000	0.84104	2.764000	0.94973	0.643000	0.83706	TCC		0.433	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		68	310	0	0	0	1	0	68	310				
ACACA	31	broad.mit.edu	37	17	35549147	35549147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35549147C>T	ENST00000394406.2	-	37	4379	c.4189G>A	c.(4189-4191)Gct>Act	p.A1397T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1434T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1397					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGTGATTAGCACATGGAATG	0.493																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4300-4302)Gct>Act		acetyl-CoA carboxylase alpha	Biotin(DB00121)						119.0	96.0	104.0					17																	35549147		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35549147C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4189G>A	17.37:g.35549147C>T	ENSP00000377928:p.Ala1397Thr					ACACA_ENST00000394406.2_Missense_Mutation_p.A1397T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T	p.A1434T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			37	4781	-		Breast(25;0.00157)|Ovarian(249;0.15)	1397					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4300G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338998	0.60963	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.68	5.68	0.88126	Acetyl-CoA carboxylase, central domain (1);	0.103647	0.64402	D	0.000004	T	0.56277	0.1974	M	0.77616	2.38	0.80722	D	1	P;P;B;B	0.40553	0.721;0.624;0.071;0.058	P;P;B;B	0.47864	0.559;0.46;0.039;0.037	T	0.50516	-0.8819	10	0.19590	T	0.45	-13.5938	19.4103	0.94670	0.0:1.0:0.0:0.0	.	145;1434;1397;1339	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	T	1434;1339;1397;1421;1319;145	ENSP00000344789:A1434T;ENSP00000353898:A1339T;ENSP00000377928:A1397T;ENSP00000335323:A1319T	ENSP00000335323:A1319T	A	-	1	0	ACACA	32623260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.669000	0.90835	0.650000	0.86243	GCT		0.493	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		43	286	0	0	0	1	0	43	286				
THSD1	55901	broad.mit.edu	37	13	52952422	52952422	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952422G>A	ENST00000258613.4	-	5	1861	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	THSD1_ENST00000544466.1_Silent_p.D182D|THSD1_ENST00000349258.4_Silent_p.D508D	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	561					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAATGGCAGTGTCTGTCAGGG	0.527																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1522-1524)gaC>gaT		thrombospondin, type I, domain containing 1							95.0	100.0	98.0					13																	52952422		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952422G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1683C>T	13.37:g.52952422G>A						THSD1_ENST00000544466.1_Silent_p.D182D|THSD1_ENST00000258613.4_Silent_p.D561D	p.D508D	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2068	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	561					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.1524C>T	CCDS9432.1																																																																																				0.527	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			75	810	0	0	0	1	0	75	810				
CRHBP	1393	broad.mit.edu	37	5	76251590	76251590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76251590G>A	ENST00000274368.4	+	4	868	c.446G>A	c.(445-447)aGc>aAc	p.S149N	CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	149					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AGCAGGAGGAGCATCAGATCT	0.493																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(445-447)aGc>aAc		corticotropin releasing hormone binding protein							122.0	107.0	112.0					5																	76251590		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76251590G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.446G>A	5.37:g.76251590G>A	ENSP00000274368:p.Ser149Asn					CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	p.S149N	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	4	868	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	149					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.446G>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	6.746	0.506401	0.12883	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.60299	0.2;0.2	3.76	1.87	0.25490	CUB (1);	0.191352	0.53938	D	0.000051	T	0.56978	0.2022	L	0.59436	1.845	0.29183	N	0.876387	P;B	0.40578	0.722;0.351	P;B	0.46172	0.506;0.09	T	0.55042	-0.8202	10	0.45353	T	0.12	-24.923	9.8428	0.41008	0.0:0.4215:0.4347:0.1438	.	149;149	D6RHH7;P24387	.;CRHBP_HUMAN	N	149	ENSP00000274368:S149N;ENSP00000426097:S149N	ENSP00000274368:S149N	S	+	2	0	CRHBP	76287346	0.302000	0.24454	0.965000	0.40720	0.627000	0.37826	0.364000	0.20325	0.516000	0.28340	0.655000	0.94253	AGC		0.493	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		14	318	0	0	0	1	0	14	318				
PHTF2	57157	broad.mit.edu	37	7	77569467	77569467	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77569467G>T	ENST00000248550.7	+	13	1664	c.1588G>T	c.(1588-1590)Gca>Tca	p.A530S	PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S|PHTF2_ENST00000416283.2_Missense_Mutation_p.A496S|PHTF2_ENST00000307305.8_Missense_Mutation_p.A492S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACAACTCACAGCACATTCTGC	0.373																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1486-1488)Gca>Tca		putative homeodomain transcription factor 2							118.0	109.0	112.0					7																	77569467		1871	4107	5978	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569467G>T	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1588G>T	7.37:g.77569467G>T	ENSP00000248550:p.Ala530Ser					PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000248550.7_Missense_Mutation_p.A530S|PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S|PHTF2_ENST00000307305.8_Missense_Mutation_p.A492S	p.A496S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1612	+			530					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.1486G>T		.	.	.	.	.	.	.	.	.	.	G	3.126	-0.179508	0.06380	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.67	-0.561	0.11785	.	0.372810	0.28082	N	0.016665	T	0.17023	0.0409	N	0.08118	0	0.24462	N	0.994431	B;B;B;B;B;B	0.12630	0.004;0.005;0.006;0.003;0.001;0.0	B;B;B;B;B;B	0.13407	0.002;0.007;0.009;0.003;0.002;0.001	T	0.32587	-0.9901	9	0.02654	T	1	-2.4148	11.3773	0.49735	0.5221:0.0:0.4779:0.0	.	291;492;496;530;492;492	Q8WVD6;Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	S	496;496;492;492;492;496;530	.	ENSP00000248550:A530S	A	+	1	0	PHTF2	77407403	0.888000	0.30383	0.969000	0.41365	0.995000	0.86356	0.168000	0.16622	-0.147000	0.11254	0.557000	0.71058	GCA		0.373	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		42	197	1	0	1.49673e-21	1	1.68722e-21	42	197				
ZIC4	84107	broad.mit.edu	37	3	147108846	147108846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108846C>T	ENST00000383075.3	-	4	1388	c.876G>A	c.(874-876)ccG>ccA	p.P292P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000491672.1_Silent_p.P86P|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000525172.2_Silent_p.P342P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	292						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCTGGGCGGCGGCGAGCGCC	0.677																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(874-876)ccG>ccA		Zic family member 4							31.0	40.0	37.0					3																	147108846		2181	4281	6462	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108846C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.876G>A	3.37:g.147108846C>T						ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000525172.2_Silent_p.P342P|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000491672.1_Silent_p.P86P	p.P292P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1388	-			292					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.876G>A	CCDS43160.1																																																																																				0.677	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			60	267	0	0	0	1	0	60	267				
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	G	A	rs199688614		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51382068G>A	ENST00000216392.7	-	11	1721	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_ENST00000532462.1_Silent_p.I463I|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.I429I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	463					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.I463I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TAGTCTTCACGATGTCTGAGT	0.473																																						ENST00000216392.7																			1	Substitution - coding silent(1)	p.I463I(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1387-1389)atC>atT		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						263.0	226.0	239.0					14																	51382068		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51382068G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1389C>T	14.37:g.51382068G>A						PYGL_ENST00000544180.2_Silent_p.I429I|PYGL_ENST00000532462.1_Silent_p.I463I	p.I463I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			11	1721	-	all_epithelial(31;0.00825)|Breast(41;0.148)		463					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1389C>T	CCDS32080.1																																																																																				0.473	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		127	558	0	0	0	1	0	127	558				
LGSN	51557	broad.mit.edu	37	6	63990245	63990245	+	Missense_Mutation	SNP	C	C	T	rs199883532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990245C>T	ENST00000370657.4	-	4	1244	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	404					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTTTCTATCCGGGTGCCTTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18915	0.0		0.0	False		,,,				2504	0.001					ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1210-1212)cGg>cAg		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)	C	,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	106.0	104.0		,1211	2.8	0.9	6		104	0,8600		0,0,4300	yes	utr-3,missense	LGSN	NM_001143940.1,NM_016571.2	,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,404/510	63990245	1,13005	2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990245C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1211G>A	6.37:g.63990245C>T	ENSP00000359691:p.Arg404Gln					LGSN_ENST00000370658.5_3'UTR	p.R404Q			Q5TDP6	LGSN_HUMAN			4	1244	-			404					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1211G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576455	0.13686	2.27E-4	0.0	ENSG00000146166	ENST00000370657	D	0.89617	-2.54	5.96	2.76	0.32466	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.249758	0.46145	N	0.000315	T	0.59211	0.2177	N	0.10837	0.055	0.80722	D	1	B	0.21688	0.059	B	0.15052	0.012	T	0.60182	-0.7313	10	0.56958	D	0.05	-9.1962	2.0179	0.03502	0.2492:0.3787:0.0:0.3721	.	404	Q5TDP6	LGSN_HUMAN	Q	404	ENSP00000359691:R404Q	ENSP00000359691:R404Q	R	-	2	0	LGSN	64048204	0.928000	0.31464	0.925000	0.36789	0.019000	0.09904	1.550000	0.36223	0.808000	0.34231	0.655000	0.94253	CGG		0.448	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		87	533	0	0	0	1	0	87	533				
RAB11FIP3	9727	broad.mit.edu	37	16	532617	532617	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:532617G>A	ENST00000262305.4	+	4	1384	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RAB11FIP3_ENST00000450428.1_Silent_p.V36V|RAB11FIP3_ENST00000457159.1_Silent_p.V332V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	332					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCACCCTGGTGCACCCTGAGC	0.657																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(994-996)gtG>gtA		RAB11 family interacting protein 3 (class II)							80.0	64.0	69.0					16																	532617		2202	4300	6502	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:532617G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.996G>A	16.37:g.532617G>A						RAB11FIP3_ENST00000457159.1_Silent_p.V332V|RAB11FIP3_ENST00000450428.1_Silent_p.V36V	p.V332V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			4	1384	+		Hepatocellular(16;0.0218)	332					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.996G>A	CCDS32351.1																																																																																				0.657	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		65	242	0	0	0	1	0	65	242				
CKAP2L	150468	broad.mit.edu	37	2	113514322	113514322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113514322G>A	ENST00000302450.6	-	4	704	c.626C>T	c.(625-627)cCa>cTa	p.P209L	CKAP2L_ENST00000541405.1_Missense_Mutation_p.P44L|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	209						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTCAGTCTTTGGCTTACTTCT	0.353																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(130-132)cCa>cTa		cytoskeleton associated protein 2-like							116.0	122.0	120.0					2																	113514322		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514322G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.626C>T	2.37:g.113514322G>A	ENSP00000305204:p.Pro209Leu					CKAP2L_ENST00000302450.6_Missense_Mutation_p.P209L	p.P44L			Q8IYA6	CKP2L_HUMAN			4	654	-			209					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.131C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891306	0.52014	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.17854	2.25;3.2	5.0	5.0	0.66597	.	0.526312	0.17617	N	0.167865	T	0.23133	0.0559	M	0.73598	2.24	0.47994	D	0.999565	P	0.44044	0.825	P	0.44897	0.463	T	0.07809	-1.0753	10	0.02654	T	1	-1.9767	14.5097	0.67776	0.0:0.0:1.0:0.0	.	209	Q8IYA6	CKP2L_HUMAN	L	44;209	ENSP00000438763:P44L;ENSP00000305204:P209L	ENSP00000305204:P209L	P	-	2	0	CKAP2L	113230793	0.044000	0.20184	0.812000	0.32479	0.175000	0.22909	2.232000	0.43018	2.705000	0.92388	0.585000	0.79938	CCA		0.353	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		37	217	0	0	0	1	0	37	217				
SLC26A6	65010	broad.mit.edu	37	3	48670820	48670820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670820G>T	ENST00000395550.2	-	3	233	c.186C>A	c.(184-186)tgC>tgA	p.C62*	SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000358747.6_Nonsense_Mutation_p.C41*|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	62					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGCACGGGAGCACCTAGGGA	0.617																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(121-123)tgC>tgA		solute carrier family 26 (anion exchanger), member 6							42.0	50.0	48.0					3																	48670820		1997	4141	6138	SO:0001587	stop_gained	65010							g.chr3:48670820G>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.186C>A	3.37:g.48670820G>T	ENSP00000378920:p.Cys62*					SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000395550.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*	p.C41*	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	2	373	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Nonsense_Mutation	SNP	ENST00000395550.2	37	c.123C>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312981	0.81358	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	.	.	.	4.89	0.825	0.18824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2132	0.37331	0.4019:0.0:0.5981:0.0	.	.	.	.	X	62;62;62;62;62;41;62;62;62	.	ENSP00000307089:C62X	C	-	3	2	SLC26A6	48645824	0.938000	0.31826	0.995000	0.50966	0.226000	0.24999	0.050000	0.14120	0.278000	0.22164	-0.258000	0.10820	TGC		0.617	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		57	215	1	0	2.85724e-49	1	3.53377e-49	57	215				
MYT1	4661	broad.mit.edu	37	20	62863731	62863731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62863731C>T	ENST00000328439.1	+	19	3254	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	MYT1_ENST00000536311.1_Missense_Mutation_p.H991Y	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTTCCTCACCCACCGGAGGTA	0.647																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2971-2973)Cac>Tac		myelin transcription factor 1							34.0	37.0	36.0					20																	62863731		2202	4295	6497	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62863731C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2890C>T	20.37:g.62863731C>T	ENSP00000327465:p.His964Tyr					MYT1_ENST00000328439.1_Missense_Mutation_p.H964Y	p.H991Y			Q01538	MYT1_HUMAN			19	3335	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		964					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2971C>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550199	0.65311	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.60171	0.26;0.21	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	D	0.85943	0.1459	10	0.87932	D	0	-21.1337	17.4785	0.87667	0.0:1.0:0.0:0.0	.	991;964	F5H7M8;Q01538	.;MYT1_HUMAN	Y	964;991	ENSP00000327465:H964Y;ENSP00000442412:H991Y	ENSP00000327465:H964Y	H	+	1	0	MYT1	62334175	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.615000	0.83006	2.132000	0.65825	0.467000	0.42956	CAC		0.647	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		57	243	0	0	0	1	0	57	243				
OR10T2	128360	broad.mit.edu	37	1	158368954	158368954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158368954C>T	ENST00000334438.1	-	1	302	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAAAGAACAGCTGGGTGGCAC	0.502																																						ENST00000334438.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(301-303)caG>caA		olfactory receptor, family 10, subfamily T, member 2							104.0	106.0	105.0					1																	158368954		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368954C>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.303G>A	1.37:g.158368954C>T							p.Q101Q	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	302	-	all_hematologic(112;0.0378)		101					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.303G>A	CCDS30895.1																																																																																				0.502	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		25	298	0	0	0	1	0	25	298				
SDK2	54549	broad.mit.edu	37	17	71398273	71398273	+	Missense_Mutation	SNP	G	G	A	rs576079011		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398273G>A	ENST00000392650.3	-	19	2492	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	831	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGGCTCCCAGGCGATCAGCTG	0.602																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(2491-2493)gCc>gTc		sidekick cell adhesion molecule 2							66.0	55.0	59.0					17																	71398273		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71398273G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2492C>T	17.37:g.71398273G>A	ENSP00000376421:p.Ala831Val					SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	p.A831V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			19	2492	-			831			Fibronectin type-III 3.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2492C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276295	0.59649	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.55413	0.52;0.52;1.51	4.94	4.94	0.65067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055352	0.64402	D	0.000001	T	0.39600	0.1084	N	0.20401	0.57	0.52501	D	0.99995	B;B	0.16396	0.017;0.016	B;B	0.29785	0.067;0.107	T	0.22103	-1.0226	10	0.30078	T	0.28	.	12.0414	0.53454	0.0798:0.0:0.9202:0.0	.	831;831	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	V	455;831;831;7;831	ENSP00000376421:A831V;ENSP00000373378:A831V;ENSP00000407098:A7V	ENSP00000324967:A831V	A	-	2	0	SDK2	68909868	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.414000	0.73318	2.470000	0.83445	0.499000	0.49734	GCC		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		11	218	0	0	0	1	0	11	218				
HFE2	148738	broad.mit.edu	37	1	145416857	145416857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145416857C>T	ENST00000336751.5	+	4	1440	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V	HFE2_ENST00000497365.1_Missense_Mutation_p.A175V|HFE2_ENST00000475797.1_Missense_Mutation_p.A175V|HFE2_ENST00000357836.5_Missense_Mutation_p.A288V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	401					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTCAGATGCTGGGGTTCCT	0.542																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(1201-1203)gCt>gTt		hemochromatosis type 2 (juvenile)							115.0	99.0	104.0					1																	145416857		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145416857C>T	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.1202C>T	1.37:g.145416857C>T	ENSP00000337014:p.Ala401Val					HFE2_ENST00000357836.5_Missense_Mutation_p.A288V|HFE2_ENST00000497365.1_Missense_Mutation_p.A175V|HFE2_ENST00000475797.1_Missense_Mutation_p.A175V	p.A401V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			4	1440	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		401					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.1202C>T	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806749	0.31961	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;T;T	0.93547	-2.84;-3.24;-1.33;-1.33	5.44	3.55	0.40652	Repulsive guidance molecule, C-terminal (1);	0.615570	0.16395	N	0.216261	T	0.81351	0.4804	L	0.43152	1.355	0.32942	D	0.51858	B	0.11235	0.004	B	0.19391	0.025	T	0.65894	-0.6057	10	0.14656	T	0.56	-4.8878	10.1462	0.42764	0.0:0.8363:0.0:0.1637	.	401	Q6ZVN8	RGMC_HUMAN	V	288;401;175;175	ENSP00000350495:A288V;ENSP00000337014:A401V;ENSP00000421820:A175V;ENSP00000425716:A175V	ENSP00000337014:A401V	A	+	2	0	HFE2	144128214	0.781000	0.28676	0.287000	0.24848	0.116000	0.19942	0.827000	0.27421	0.840000	0.34995	0.655000	0.94253	GCT		0.542	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		87	395	0	0	0	1	0	87	395				
C1orf116	79098	broad.mit.edu	37	1	207195513	207195513	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207195513G>A	ENST00000359470.5	-	4	1845	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	C1orf116_ENST00000461135.2_Silent_p.S286S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	532						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CCGTGCCCAGGGAGGCCGGGC	0.592																																						ENST00000359470.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1594-1596)tcC>tcT		chromosome 1 open reading frame 116							29.0	32.0	31.0					1																	207195513		2203	4300	6503	SO:0001819	synonymous_variant	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195513G>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1596C>T	1.37:g.207195513G>A						C1orf116_ENST00000461135.2_Silent_p.S286S	p.S532S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	1845	-	Prostate(682;0.19)		532					C9JV41|Q658X3	Silent	SNP	ENST00000359470.5	37	c.1596C>T	CCDS1475.1																																																																																				0.592	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		51	133	0	0	0	1	0	51	133				
RREB1	6239	broad.mit.edu	37	6	7247318	7247318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7247318C>T	ENST00000349384.6	+	11	4784	c.4470C>T	c.(4468-4470)gaC>gaT	p.D1490D	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379938.2_Silent_p.D1545D|RREB1_ENST00000379933.3_Silent_p.D1490D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1490					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGAAGAGCGACGATGACAAGA	0.637																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4633-4635)gaC>gaT		ras responsive element binding protein 1							79.0	75.0	76.0					6																	7247318		2203	4299	6502	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7247318C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4470C>T	6.37:g.7247318C>T						RREB1_ENST00000349384.6_Silent_p.D1490D|RREB1_ENST00000379933.3_Silent_p.D1490D|RREB1_ENST00000334984.6_Intron	p.D1545D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			12	5172	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1490					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.4635C>T	CCDS34336.1																																																																																				0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			50	185	0	0	0	1	0	50	185				
BCS1L	617	broad.mit.edu	37	2	219525923	219525923	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525923T>C	ENST00000431802.1	+	2	912	c.213T>C	c.(211-213)agT>agC	p.S71S	BCS1L_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000392109.1_Silent_p.S71S|BCS1L_ENST00000439945.1_Silent_p.S71S|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Silent_p.S71S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	71					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCACAGTACCCGTACTC	0.552																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(211-213)agT>agC		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							127.0	129.0	128.0					2																	219525923		2203	4300	6503	SO:0001819	synonymous_variant	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525923T>C	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.213T>C	2.37:g.219525923T>C						BCS1L_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000439945.1_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S|BCS1L_ENST00000392109.1_Silent_p.S71S|BCS1L_ENST00000412366.1_Silent_p.S71S|BCS1L_ENST00000392111.2_Silent_p.S71S	p.S71S			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	912	+		Renal(207;0.0474)	71					B3KTW9|Q7Z2V7	Silent	SNP	ENST00000431802.1	37	c.213T>C	CCDS2419.1																																																																																				0.552	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		48	712	0	0	0	1	0	48	712				
NFATC3	4775	broad.mit.edu	37	16	68156009	68156009	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156009T>C	ENST00000346183.3	+	2	247	c.223T>C	c.(223-225)Tca>Cca	p.S75P	NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|NFATC3_ENST00000349223.5_Missense_Mutation_p.S75P|RP11-67A1.2_ENST00000548144.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	75			S -> L (in dbSNP:rs2230092).		cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCTGTTTTGTCACCATCGTT	0.408																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(223-225)Tca>Cca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							217.0	194.0	202.0					16																	68156009		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156009T>C	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.223T>C	16.37:g.68156009T>C	ENSP00000300659:p.Ser75Pro					NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.S75P|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|RP11-67A1.2_ENST00000548144.1_RNA	p.S75P	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	447	+		Ovarian(137;0.0563)	75		S -> L (in dbSNP:rs2230092).			O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.223T>C	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127301	0.56721	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.12361	2.69;2.69;2.7	5.71	4.61	0.57282	.	0.646421	0.16210	N	0.224538	T	0.20210	0.0486	L	0.39898	1.24	0.36192	D	0.850152	P;P;P;P	0.51147	0.542;0.942;0.542;0.811	B;P;B;B	0.54401	0.288;0.751;0.288;0.288	T	0.10497	-1.0627	10	0.25106	T	0.35	0.3816	11.5118	0.50498	0.0:0.0709:0.0:0.9291	.	75;75;75;75	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	P	75	ENSP00000264008:S75P;ENSP00000300659:S75P;ENSP00000331324:S75P	ENSP00000331324:S75P	S	+	1	0	NFATC3	66713510	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.259000	0.78381	1.101000	0.41535	0.456000	0.33151	TCA		0.408	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		151	546	0	0	0	1	0	151	546				
TAS2R38	5726	broad.mit.edu	37	7	141672855	141672855	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672855G>T	ENST00000547270.1	-	1	718	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	212					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CATCCCAGAAGAAACCAGAAA	0.458																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(634-636)tCt>tAt		taste receptor, type 2, member 38							102.0	109.0	107.0					7																	141672855		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672855G>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.635C>A	7.37:g.141672855G>T	ENSP00000448219:p.Ser212Tyr						p.S212Y	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	718	-	Melanoma(164;0.0171)		212					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.635C>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039484	0.35989	.	.	ENSG00000257138	ENST00000547270	T	0.46063	0.88	5.0	4.12	0.48240	.	0.161646	0.41396	D	0.000884	T	0.63768	0.2539	M	0.83223	2.63	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57207	-0.7851	10	0.87932	D	0	.	9.2222	0.37384	0.0978:0.0:0.9022:0.0	.	212	P59533	T2R38_HUMAN	Y	212	ENSP00000448219:S212Y	ENSP00000331291:S212Y	S	-	2	0	TAS2R38	141319324	0.556000	0.26538	0.188000	0.23233	0.343000	0.28985	2.888000	0.48594	1.338000	0.45544	0.655000	0.94253	TCT		0.458	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		50	255	1	0	2.65591e-33	1	3.14676e-33	50	255				
PLIN5	440503	broad.mit.edu	37	19	4525690	4525690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4525690G>A	ENST00000381848.3	-	6	755	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	225	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTGGGCACGGTGTTTGCTCT	0.652																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(673-675)caC>caT		perilipin 5							54.0	66.0	62.0					19																	4525690		2132	4229	6361	SO:0001819	synonymous_variant	440503					lipid particle		g.chr19:4525690G>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.675C>T	19.37:g.4525690G>A							p.H225H	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			6	755	-			225					A2RRC1|Q6ZS68	Silent	SNP	ENST00000381848.3	37	c.675C>T	CCDS42473.1																																																																																				0.652	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		73	316	0	0	0	1	0	73	316				
ITGA7	3679	broad.mit.edu	37	12	56094883	56094883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56094883C>T	ENST00000555728.1	-	4	498	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R157Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q			Q13683	ITA7_HUMAN	integrin, alpha 7	157					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AATCATATCCCGCGTCTCCAG	0.602																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(469-471)cGg>cAg		integrin, alpha 7							133.0	115.0	121.0					12																	56094883		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094883C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.470G>A	12.37:g.56094883C>T	ENSP00000452387:p.Arg157Gln					ITGA7_ENST00000555728.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q	p.R157Q			Q13683	ITA7_HUMAN			4	689	-			157					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.470G>A		.	.	.	.	.	.	.	.	.	.	C	14.88	2.666291	0.47677	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.49720	0.95;0.95;0.95;0.77;0.95;0.95;0.95;0.95	4.47	3.57	0.40892	.	0.076639	0.49916	D	0.000122	T	0.61776	0.2374	M	0.64080	1.96	0.43885	D	0.996502	P;P;D;D	0.89917	0.758;0.906;0.999;1.0	P;B;D;P	0.71656	0.459;0.372;0.974;0.883	T	0.61013	-0.7148	10	0.39692	T	0.17	.	11.8786	0.52562	0.1759:0.8241:0.0:0.0	.	60;157;157;220	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	157;157;157;60;157;157;157;157;157	ENSP00000452120:R157Q;ENSP00000257879:R157Q;ENSP00000343009:R157Q;ENSP00000393844:R60Q;ENSP00000257880:R157Q;ENSP00000377777:R157Q;ENSP00000377776:R157Q;ENSP00000452387:R157Q	ENSP00000257879:R157Q	R	-	2	0	ITGA7	54381150	1.000000	0.71417	0.628000	0.29241	0.001000	0.01503	7.604000	0.82830	1.235000	0.43724	-0.324000	0.08512	CGG		0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		9	376	0	0	0	1	0	9	376				
C3orf33	285315	broad.mit.edu	37	3	155481469	155481469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155481469C>A	ENST00000340171.2	-	5	820	c.722G>T	c.(721-723)aGt>aTt	p.S241I	C3orf33_ENST00000534941.1_Missense_Mutation_p.S198I			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	241					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTAAAAAACTGTCCTTTTT	0.299																																						ENST00000534941.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(592-594)aGt>aTt		chromosome 3 open reading frame 33							70.0	63.0	65.0					3																	155481469		1780	4057	5837	SO:0001583	missense	285315						hydrolase activity, acting on ester bonds|nucleic acid binding	g.chr3:155481469C>A	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.722G>T	3.37:g.155481469C>A	ENSP00000342512:p.Ser241Ile					C3orf33_ENST00000340171.2_Missense_Mutation_p.S241I	p.S198I	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	862	-			198					A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37	c.593G>T		.	.	.	.	.	.	.	.	.	.	C	11.96	1.795647	0.31777	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46063	0.88;0.88	5.13	0.327	0.15913	.	0.942736	0.08977	N	0.866334	T	0.50446	0.1616	L	0.57536	1.79	0.09310	N	0.999999	D	0.53151	0.958	P	0.54312	0.748	T	0.43861	-0.9365	10	0.72032	D	0.01	-5.5109	8.8689	0.35303	0.0:0.5147:0.0:0.4853	.	241	Q6P1S2	CC033_HUMAN	I	198;241;241	ENSP00000445446:S198I;ENSP00000342512:S241I	ENSP00000342512:S241I	S	-	2	0	C3orf33	156964163	0.000000	0.05858	0.308000	0.25141	0.521000	0.34408	-1.494000	0.02296	-0.005000	0.14395	0.650000	0.86243	AGT		0.299	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		22	152	1	0	3.5997e-14	1	3.90403e-14	22	152				
RPLP0P2	113157	broad.mit.edu	37	11	61404371	61404371	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61404371G>A	ENST00000496593.1	+	0	975					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		AAACAGCCCAGCTCTGGAGAA	0.597																																						ENST00000496593.1																			0																																																			0							g.chr11:61404371G>A	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404371G>A								NR_002775.2						0	975	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.597	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		36	157	0	0	0	1	0	36	157				
GCM1	8521	broad.mit.edu	37	6	52995674	52995674	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995674C>A	ENST00000259803.7	-	5	708	c.497G>T	c.(496-498)aGa>aTa	p.R166I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	166					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CATGGCTCTTCTTGCCTCAGC	0.423																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(496-498)aGa>aTa		glial cells missing homolog 1 (Drosophila)							433.0	331.0	365.0					6																	52995674		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52995674C>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.497G>T	6.37:g.52995674C>A	ENSP00000259803:p.Arg166Ile						p.R166I	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			5	708	-	Lung NSC(77;0.0755)		166					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.497G>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236308	0.79800	.	.	ENSG00000137270	ENST00000259803	T	0.77229	-1.08	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86844	0.2019	10	0.87932	D	0	-5.1915	20.4238	0.99064	0.0:1.0:0.0:0.0	.	166	Q9NP62	GCM1_HUMAN	I	166	ENSP00000259803:R166I	ENSP00000259803:R166I	R	-	2	0	GCM1	53103633	1.000000	0.71417	0.997000	0.53966	0.172000	0.22775	6.685000	0.74543	2.834000	0.97654	0.650000	0.86243	AGA		0.423	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			97	449	1	0	1.14904e-54	1	1.4347e-54	97	449				
STARD4	134429	broad.mit.edu	37	5	110835588	110835588	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835588A>G	ENST00000296632.3	-	6	748	c.614T>C	c.(613-615)tTa>tCa	p.L205S	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	205	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TGCCTCTCATAAAGCTTTTCG	0.408																																						ENST00000296632.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12						c.(613-615)tTa>tCa		StAR-related lipid transfer (START) domain containing 4							138.0	129.0	132.0					5																	110835588		2202	4300	6502	SO:0001583	missense	134429				lipid transport		lipid binding	g.chr5:110835588A>G	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.614T>C	5.37:g.110835588A>G	ENSP00000296632:p.Leu205Ser					STARD4_ENST00000512160.1_3'UTR	p.L205S	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	748	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	205			START.		Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	c.614T>C	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912125	0.72983	.	.	ENSG00000164211	ENST00000296632	D	0.92099	-2.97	4.85	4.85	0.62838	Lipid-binding START (1);	0.000000	0.56097	D	0.000021	D	0.95066	0.8402	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95434	0.8519	10	0.87932	D	0	-11.0684	13.4591	0.61217	1.0:0.0:0.0:0.0	.	205	Q96DR4	STAR4_HUMAN	S	205	ENSP00000296632:L205S	ENSP00000296632:L205S	L	-	2	0	STARD4	110863487	0.862000	0.29867	0.005000	0.12908	0.258000	0.26162	3.302000	0.51849	2.173000	0.68751	0.528000	0.53228	TTA		0.408	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		70	300	0	0	0	1	0	70	300				
STARD4	134429	broad.mit.edu	37	5	110835647	110835647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	185	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTGTATCTACCGCAGACTGAG	0.413																																						ENST00000296632.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12						c.(553-555)gcG>gcA		StAR-related lipid transfer (START) domain containing 4							171.0	161.0	164.0					5																	110835647		2202	4300	6502	SO:0001819	synonymous_variant	134429				lipid transport		lipid binding	g.chr5:110835647C>T	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.555G>A	5.37:g.110835647C>T						STARD4_ENST00000512160.1_3'UTR	p.A185A	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	689	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	185			START.		Q86TN9	Silent	SNP	ENST00000296632.3	37	c.555G>A	CCDS4104.1																																																																																				0.413	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		104	414	0	0	0	1	0	104	414				
APOB	338	broad.mit.edu	37	2	21233848	21233848	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233848A>G	ENST00000233242.1	-	26	6019	c.5892T>C	c.(5890-5892)ctT>ctC	p.L1964L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1964					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGTGTTCAAGAGCTGCAC	0.458																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5890-5892)ctT>ctC		apolipoprotein B	Atorvastatin(DB01076)						157.0	145.0	149.0					2																	21233848		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233848A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5892T>C	2.37:g.21233848A>G							p.L1964L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6019	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1964					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5892T>C	CCDS1703.1																																																																																				0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			197	489	0	0	0	1	0	197	489				
NRCAM	4897	broad.mit.edu	37	7	107790514	107790514	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107790514G>A	ENST00000425651.2	-	30	3755	c.3756C>T	c.(3754-3756)gaC>gaT	p.D1252D	NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000379028.3_Silent_p.D1252D|NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000351718.4_Silent_p.D1131D|NRCAM_ENST00000522550.2_5'UTR	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1252					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTAGGCTGTCGTCACTATCTT	0.433																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(3754-3756)gaC>gaT		neuronal cell adhesion molecule							217.0	192.0	201.0					7																	107790514		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107790514G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3756C>T	7.37:g.107790514G>A						NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000425651.2_Silent_p.D1252D|NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000351718.4_Silent_p.D1131D|NRCAM_ENST00000522550.2_5'UTR	p.D1252D			Q92823	NRCAM_HUMAN			33	4226	-			1252					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.3756C>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	3.696	-0.062504	0.07273	.	.	ENSG00000091129	ENST00000445634	.	.	.	6.17	-2.17	0.07059	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54166	-0.8334	4	.	.	.	.	11.3392	0.49523	0.6338:0.0:0.3662:0.0	.	.	.	.	M	151	.	.	T	-	2	0	NRCAM	107577750	1.000000	0.71417	0.685000	0.30070	0.909000	0.53808	1.744000	0.38268	-0.533000	0.06323	-1.105000	0.02106	ACG		0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		175	724	0	0	0	1	0	175	724				
ZNF414	84330	broad.mit.edu	37	19	8578036	8578036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8578036G>A	ENST00000255616.8	-	2	294	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ZNF414_ENST00000393927.4_Nonsense_Mutation_p.Q65*	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	65			Q -> R (in dbSNP:rs8100431). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GAGCCCTGCTGCATCCCTCCA	0.706																																						ENST00000393927.4																			0				lung(2)	2						c.(193-195)Cag>Tag		zinc finger protein 414							8.0	8.0	8.0					19																	8578036		2155	4209	6364	SO:0001587	stop_gained	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8578036G>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.193C>T	19.37:g.8578036G>A	ENSP00000255616:p.Gln65*					ZNF414_ENST00000255616.8_Nonsense_Mutation_p.Q65*	p.Q65*	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN			2	306	-			65		Q -> R (in dbSNP:rs8100431).			A8MY94	Nonsense_Mutation	SNP	ENST00000255616.8	37	c.193C>T	CCDS12205.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424835	0.62733	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	.	.	.	4.13	3.09	0.35607	.	0.000000	0.33438	N	0.004910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.8746	7.6881	0.28552	0.117:0.0:0.883:0.0	.	.	.	.	X	65	.	ENSP00000255616:Q65X	Q	-	1	0	ZNF414	8484036	0.964000	0.33143	0.366000	0.25914	0.319000	0.28217	2.193000	0.42658	1.079000	0.41038	0.655000	0.94253	CAG		0.706	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		5	23	0	0	0	1	0	5	23				
THAP9	79725	broad.mit.edu	37	4	83822022	83822022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83822022C>A	ENST00000302236.5	+	1	118	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	THAP9-AS1_ENST00000503704.1_RNA|THAP9-AS1_ENST00000507660.1_RNA|SEC31A_ENST00000355196.2_5'Flank|THAP9-AS1_ENST00000504718.1_RNA|THAP9-AS1_ENST00000504520.2_RNA|THAP9-AS1_ENST00000508772.1_RNA|THAP9-AS1_ENST00000512932.1_RNA|THAP9-AS1_ENST00000509007.1_RNA|THAP9-AS1_ENST00000504792.2_RNA|THAP9-AS1_ENST00000504869.1_RNA|THAP9-AS1_ENST00000505028.1_RNA|THAP9-AS1_ENST00000513581.1_RNA|THAP9-AS1_ENST00000511271.1_RNA	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	23					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGAGCGCGGCCTCTCCTTCCA	0.711																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(67-69)Ctc>Atc		THAP domain containing 9							36.0	41.0	39.0					4																	83822022		2202	4299	6501	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83822022C>A	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.67C>A	4.37:g.83822022C>A	ENSP00000305533:p.Leu23Ile					THAP9-AS1_ENST00000504520.2_RNA	p.L23I	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			1	118	+		Hepatocellular(203;0.114)	23					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.67C>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172757	0.57584	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.96011	-3.88	4.53	3.62	0.41486	Zinc finger, C2CH-type (3);	0.416196	0.17817	N	0.160983	D	0.84142	0.5407	N	0.02403	-0.565	0.23876	N	0.996598	P	0.38711	0.643	B	0.38378	0.272	T	0.78091	-0.2339	10	0.10377	T	0.69	-0.0427	7.6213	0.28187	0.0:0.8739:0.0:0.1261	.	23	Q9H5L6	THAP9_HUMAN	I	23	ENSP00000305533:L23I	ENSP00000305533:L23I	L	+	1	0	THAP9	84041046	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.418000	0.21230	1.378000	0.46305	0.467000	0.42956	CTC		0.711	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		73	354	1	0	1.07363e-35	1	1.28291e-35	73	354				
PCDH9	5101	broad.mit.edu	37	13	67802202	67802202	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67802202C>A	ENST00000377865.2	-	1	505	c.371G>T	c.(370-372)aGg>aTg	p.R124M	PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M|PCDH9_ENST00000544246.1_Missense_Mutation_p.R124M			Q9HC56	PCDH9_HUMAN	protocadherin 9	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATCAGCCTGAAGAAATC	0.398																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(370-372)aGg>aTg		protocadherin 9							84.0	86.0	85.0					13																	67802202		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802202C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.371G>T	13.37:g.67802202C>A	ENSP00000367096:p.Arg124Met					PCDH9_ENST00000377865.2_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M|PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M	p.R124M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1062	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	124			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.371G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647499	0.47258	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55930	0.54;0.54;0.49;0.49;0.51	5.94	5.94	0.96194	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.85197	2.74	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.77557	0.94;0.976;0.99;0.976	T	0.79638	-0.1720	10	0.87932	D	0	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	124;124;124;124	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	124	ENSP00000442186:R124M;ENSP00000367096:R124M;ENSP00000401699:R124M;ENSP00000332060:R124M;ENSP00000367092:R124M	ENSP00000332060:R124M	R	-	2	0	PCDH9	66700203	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.816000	0.96949	0.561000	0.74099	AGG		0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		19	450	1	0	0.0383953	1	0.0384977	19	450				
PCDH15	65217	broad.mit.edu	37	10	55587172	55587172	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55587172C>T	ENST00000320301.6	-	32	4742	c.4348G>A	c.(4348-4350)Gaa>Aaa	p.E1450K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1457K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1450					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCCAAGTTCTTCATAGAGA	0.552										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4369-4371)Gaa>Aaa		protocadherin-related 15							58.0	63.0	61.0					10																	55587172		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587172C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4348G>A	10.37:g.55587172C>T	ENSP00000322604:p.Glu1450Lys	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1450K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K	p.E1457K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4763	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1450					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4369G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692534	0.96793	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.65549	0.38;0.4;0.23;0.08;0.27;-0.05;-0.09;-0.02;-0.1;-0.11;-0.16	5.64	5.64	0.86602	.	.	.	.	.	T	0.77698	0.4169	L	0.61218	1.895	0.58432	D	0.999999	P;P;P;P;P;P;P;D;D;D;D;D;P	0.71674	0.773;0.919;0.864;0.749;0.946;0.864;0.773;0.998;0.995;0.997;0.997;0.995;0.919	B;P;B;B;P;B;B;D;P;D;P;P;P	0.79784	0.354;0.507;0.407;0.284;0.776;0.407;0.354;0.993;0.872;0.91;0.872;0.9;0.507	T	0.78687	-0.2107	9	0.87932	D	0	.	17.8351	0.88693	0.0:1.0:0.0:0.0	.	1425;1450;1450;1455;1379;1410;1447;1450;1457;1457;1450;1452;1450	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1457;1452;1450;1450;1061;1457;1410;1450;1425;1450;1447;1455;1379	ENSP00000363076:E1457K;ENSP00000410304:E1452K;ENSP00000378826:E1450K;ENSP00000386693:E1061K;ENSP00000378832:E1457K;ENSP00000378820:E1410K;ENSP00000354950:E1450K;ENSP00000378821:E1425K;ENSP00000322604:E1450K;ENSP00000378818:E1447K;ENSP00000412628:E1379K	ENSP00000322604:E1450K	E	-	1	0	PCDH15	55257178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.840000	0.75369	2.807000	0.96579	0.591000	0.81541	GAA		0.552	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		111	558	0	0	0	1	0	111	558				
ZNF71	58491	broad.mit.edu	37	19	57133840	57133840	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133840G>A	ENST00000328070.6	+	3	1419	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGGGCGCTCGTCCCTCATCG	0.632																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1183-1185)tcG>tcA		zinc finger protein 71							89.0	72.0	78.0					19																	57133840		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133840G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1185G>A	19.37:g.57133840G>A							p.S395S	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1419	+			395					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1185G>A	CCDS12947.1																																																																																				0.632	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		70	325	0	0	0	1	0	70	325				
PADI4	23569	broad.mit.edu	37	1	17664602	17664602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	160					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(478-480)Gaa>Aaa		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						152.0	128.0	136.0					1																	17664602		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17664602G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.478G>A	1.37:g.17664602G>A	ENSP00000364597:p.Glu160Lys					AC004824.2_ENST00000602074.1_Intron	p.E160K	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	5	504	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	160					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.478G>A	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	7.390	0.630670	0.14322	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	5.15	-10.3	0.00346	Protein-arginine deiminase (PAD), central domain (2);	1.431090	0.04168	N	0.324253	T	0.02455	0.0075	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.26538	-1.0100	10	0.09338	T	0.73	0.0019	3.264	0.06859	0.3132:0.3875:0.204:0.0953	.	160;160	A8K392;Q9UM07	.;PADI4_HUMAN	K	160	ENSP00000364597:E160K	ENSP00000364597:E160K	E	+	1	0	PADI4	17537189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.930000	0.01557	-2.431000	0.00556	-2.173000	0.00322	GAA		0.527	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		70	338	0	0	0	1	0	70	338				
CAMKK1	84254	broad.mit.edu	37	17	3785616	3785616	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3785616G>A	ENST00000348335.2	-	7	834				CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A245V|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A245V	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTGGGGCTTGGCGATATTTGT	0.562																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(733-735)gCc>gTc		calcium/calmodulin-dependent protein kinase kinase 1, alpha							121.0	117.0	118.0					17																	3785616		2203	4300	6503	SO:0001627	intron_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3785616G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.685+205C>T	17.37:g.3785616G>A						CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000348335.2_Intron|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A245V	p.A245V			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	8	881	-			228			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.734C>T	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060710	0.36373	.	.	ENSG00000004660	ENST00000381771;ENST00000158166	T;T	0.73681	-0.77;-0.76	3.79	3.79	0.43588	.	.	.	.	.	T	0.60818	0.2298	N	0.21324	0.655	0.09310	N	1	B	0.18310	0.027	B	0.21546	0.035	T	0.46512	-0.9186	9	0.27082	T	0.32	-0.9455	11.4467	0.50127	0.0:0.0:1.0:0.0	.	245	F8W9H1	.	V	245	ENSP00000371190:A245V;ENSP00000158166:A245V	ENSP00000158166:A245V	A	-	2	0	CAMKK1	3732365	0.002000	0.14202	0.047000	0.18901	0.263000	0.26337	1.137000	0.31479	2.416000	0.81992	0.655000	0.94253	GCC		0.562	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		57	330	0	0	0	1	0	57	330				
RHOD	29984	broad.mit.edu	37	11	66834227	66834227	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66834227G>A	ENST00000308831.2	+	3	324	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80H	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	80					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						GACTATGACCGCCTGCGGCCC	0.592																																						ENST00000308831.2																			0				lung(3)	3						c.(238-240)cGc>cAc		ras homolog family member D							140.0	127.0	132.0					11																	66834227		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66834227G>A	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.239G>A	11.37:g.66834227G>A	ENSP00000308576:p.Arg80His					RHOD_ENST00000533360.1_Missense_Mutation_p.R80H|RHOD_ENST00000532559.1_Intron	p.R80H	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN			3	324	+			80						Missense_Mutation	SNP	ENST00000308831.2	37	c.239G>A	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755124	0.49362	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.77750	-1.12;-1.12	4.9	2.98	0.34508	Small GTP-binding protein domain (1);	0.000000	0.48767	D	0.000166	T	0.71978	0.3404	M	0.79614	2.46	0.80722	D	1	B	0.33748	0.423	B	0.24006	0.05	T	0.74182	-0.3748	10	0.87932	D	0	-19.3198	7.7208	0.28731	0.1975:0.0:0.8025:0.0	.	80	O00212	RHOD_HUMAN	H	80	ENSP00000308576:R80H;ENSP00000431167:R80H	ENSP00000308576:R80H	R	+	2	0	RHOD	66590803	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	6.808000	0.75206	1.301000	0.44836	-0.136000	0.14681	CGC		0.592	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		120	551	0	0	0	1	0	120	551				
HECW2	57520	broad.mit.edu	37	2	197183767	197183767	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197183767G>T	ENST00000260983.3	-	9	2029	c.1847C>A	c.(1846-1848)cCc>cAc	p.P616H	HECW2_ENST00000409111.1_Missense_Mutation_p.P260H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	616					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGATCACTGGGTTCTGTTTC	0.587																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1846-1848)cCc>cAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							61.0	52.0	55.0					2																	197183767		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183767G>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1847C>A	2.37:g.197183767G>T	ENSP00000260983:p.Pro616His					HECW2_ENST00000409111.1_Missense_Mutation_p.P260H	p.P616H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2029	-			616					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1847C>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516234	0.44763	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32515	1.45;1.46	5.4	5.4	0.78164	.	1.163250	0.06052	N	0.656663	T	0.27798	0.0684	N	0.14661	0.345	0.39650	D	0.970454	D	0.52996	0.957	P	0.45998	0.5	T	0.04767	-1.0928	10	0.38643	T	0.18	.	13.4478	0.61151	0.0:0.0:0.8336:0.1664	.	616	Q9P2P5	HECW2_HUMAN	H	260;616	ENSP00000386775:P260H;ENSP00000260983:P616H	ENSP00000260983:P616H	P	-	2	0	HECW2	196892012	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.361000	0.52306	2.813000	0.96785	0.561000	0.74099	CCC		0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		63	140	1	0	1.80625e-27	1	2.09175e-27	63	140				
FCHO1	23149	broad.mit.edu	37	19	17895033	17895033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17895033C>A	ENST00000596536.1	+	25	2498	c.2215C>A	c.(2215-2217)Ctg>Atg	p.L739M	FCHO1_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000594202.1_Missense_Mutation_p.L739M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	739	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGTGGTGCTGCTGCGATACCA	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(2215-2217)Ctg>Atg		FCH domain only 1							30.0	24.0	26.0					19																	17895033		2202	4300	6502	SO:0001583	missense	23149							g.chr19:17895033C>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2215C>A	19.37:g.17895033C>A	ENSP00000470731:p.Leu739Met		OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	721	FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000596536.1_Missense_Mutation_p.L739M|FCHO1_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M	p.L739M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			25	2494	+			739					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2215C>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396748	0.62177	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.54279	0.58;0.58;0.58	4.18	3.12	0.35913	Muniscin C-terminal mu homology domain (1);	0.091658	0.43579	D	0.000558	T	0.62841	0.2461	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.983	T	0.63120	-0.6708	10	0.72032	D	0.01	-14.6395	9.1398	0.36897	0.0:0.8846:0.0:0.1154	.	739;739	O14526;O14526-2	FCHO1_HUMAN;.	M	739	ENSP00000252771:L739M;ENSP00000373785:L739M;ENSP00000437978:L739M	ENSP00000252771:L739M	L	+	1	2	FCHO1	17756033	0.977000	0.34250	0.971000	0.41717	0.934000	0.57294	0.894000	0.28350	0.857000	0.35407	0.313000	0.20887	CTG		0.652	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		27	83	1	0	2.48779e-11	1	2.65321e-11	27	83				
POGK	57645	broad.mit.edu	37	1	166818370	166818370	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166818370A>G	ENST00000367875.1	+	5	914	c.554A>G	c.(553-555)gAc>gGc	p.D185G	POGK_ENST00000367876.4_Missense_Mutation_p.D185G|POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000536514.1_Missense_Mutation_p.D100G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	185					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCGGCTGATGACATAGCTGGG	0.572																																					GBM(76;192 1530 30153 48742)	ENST00000367875.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(553-555)gAc>gGc		pogo transposable element with KRAB domain							84.0	74.0	77.0					1																	166818370		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818370A>G	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.554A>G	1.37:g.166818370A>G	ENSP00000356849:p.Asp185Gly					POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000536514.1_Missense_Mutation_p.D100G|POGK_ENST00000367876.4_Missense_Mutation_p.D185G	p.D185G			Q9P215	POGK_HUMAN			5	914	+			185					Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.554A>G	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342365	0.61073	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.37752	1.25;1.18;4.21;4.56;4.56	5.39	5.39	0.77823	.	0.128839	0.35040	N	0.003481	T	0.26521	0.0648	N	0.24115	0.695	0.31956	N	0.609032	D;D;D	0.71674	0.998;0.996;0.989	P;P;P	0.60886	0.88;0.762;0.762	T	0.08310	-1.0728	9	0.26408	T	0.33	-35.2945	11.7317	0.51741	1.0:0.0:0.0:0.0	.	67;100;185	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	G	67;100;185;185;185	ENSP00000442763:D67G;ENSP00000441187:D100G;ENSP00000404402:D185G;ENSP00000356850:D185G;ENSP00000356849:D185G	ENSP00000356849:D185G	D	+	2	0	POGK	165084994	0.903000	0.30736	0.095000	0.20976	0.917000	0.54804	3.892000	0.56235	2.263000	0.75096	0.533000	0.62120	GAC		0.572	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		65	266	0	0	0	1	0	65	266				
STKLD1	169436	broad.mit.edu	37	9	136260729	136260729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136260729C>T	ENST00000371957.3	+	9	812	c.705C>T	c.(703-705)ggC>ggT	p.G235G	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCGTGCAGGGCACAGAAGCCA	0.567																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(703-705)ggC>ggT		chromosome 9 open reading frame 96							59.0	59.0	59.0					9																	136260729		2203	4300	6503	SO:0001819	synonymous_variant	169436						ATP binding|protein kinase activity	g.chr9:136260729C>T																												ENST00000371957.3:c.705C>T	9.37:g.136260729C>T						C9orf96_ENST00000371955.1_5'UTR	p.G235G	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	812	+			235			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	c.705C>T	CCDS35169.1																																																																																				0.567	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			35	200	0	0	0	1	0	35	200				
SYTL3	94120	broad.mit.edu	37	6	159084345	159084345	+	Silent	SNP	C	C	T	rs200370553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159084345C>T	ENST00000297239.9	+	3	239	c.45C>T	c.(43-45)cgC>cgT	p.R15R	SYTL3_ENST00000360448.3_Silent_p.R15R|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	15	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.R15R(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AGTTAGAACGCGAGGCCATTC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18842	0.0		0.0	False		,,,				2504	0.0					ENST00000297239.9																			1	Substitution - coding silent(1)	p.R15R(1)	endometrium(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(43-45)cgC>cgT		synaptotagmin-like 3							86.0	74.0	78.0					6																	159084345		2203	4300	6503	SO:0001819	synonymous_variant	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159084345C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.45C>T	6.37:g.159084345C>T						SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Silent_p.R15R	p.R15R			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	3	239	+		Breast(66;0.000776)|Ovarian(120;0.0303)	15			RabBD.		Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.45C>T	CCDS56458.1																																																																																				0.552	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			24	253	0	0	0	1	0	24	253				
MROH9	80133	broad.mit.edu	37	1	170959134	170959134	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:170959134C>T	ENST00000367758.3	+	11	1117	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	MROH9_ENST00000367759.4_Missense_Mutation_p.P340S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	340																	CTACCCAGTTCCAGCAGACGA	0.473																																						ENST00000367759.4																			0											c.(1018-1020)Cca>Tca		maestro heat-like repeat family member 9							84.0	80.0	82.0					1																	170959134		1928	4140	6068	SO:0001583	missense	80133							g.chr1:170959134C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1018C>T	1.37:g.170959134C>T	ENSP00000356732:p.Pro340Ser					MROH9_ENST00000367758.3_Missense_Mutation_p.P340S	p.P340S	NM_001163629.1	NP_001157101.1					11	1172	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1018C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841288	0.51057	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.39787	2.84;1.06	5.18	5.18	0.71444	Armadillo-like helical (1);	0.000000	0.64402	D	0.000016	T	0.55545	0.1927	M	0.69823	2.125	0.35261	D	0.779558	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63278	-0.6673	10	0.87932	D	0	-12.2862	14.1871	0.65612	0.0:1.0:0.0:0.0	.	340;340	F5GWX6;Q5TGP6	.;CA129_HUMAN	S	340	ENSP00000356733:P340S;ENSP00000356732:P340S	ENSP00000356732:P340S	P	+	1	0	C1orf129	169225758	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	3.545000	0.53648	2.402000	0.81655	0.467000	0.42956	CCA		0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		45	224	0	0	0	1	0	45	224				
TOX2	84969	broad.mit.edu	37	20	42694624	42694624	+	Silent	SNP	C	C	T	rs200781086	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42694624C>T	ENST00000358131.5	+	6	1387	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	TOX2_ENST00000341197.4_Silent_p.H411H|TOX2_ENST00000423191.2_Silent_p.H369H|TOX2_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	393	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCCCTCACGCCCAGGGCG	0.701													C|||	2	0.000399361	0.0	0.0	5008	,	,		10759	0.0		0.0	False		,,,				2504	0.002					ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1177-1179)caC>caT		TOX high mobility group box family member 2		C	,,,	1,4403	2.1+/-5.4	0,1,2201	27.0	30.0	29.0		1107,1233,1179,1107	-1.5	1.0	20		29	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOX2	NM_001098796.1,NM_001098797.1,NM_001098798.1,NM_032883.2	,,,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,,,	369/465,411/507,393/489,369/465	42694624	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694624C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1179C>T	20.37:g.42694624C>T						TOX2_ENST00000435864.2_Silent_p.H289H|TOX2_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000423191.1_Silent_p.H369H|TOX2_ENST00000341197.3_Silent_p.H411H	p.H393H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1387	+		Myeloproliferative disorder(115;0.00452)	393			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1179C>T	CCDS42875.1																																																																																				0.701	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			53	232	0	0	0	1	0	53	232				
VAC14	55697	broad.mit.edu	37	16	70778369	70778369	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70778369G>T	ENST00000261776.5	-	13	1745	c.1485C>A	c.(1483-1485)ctC>ctA	p.L495L	RP11-394B2.6_ENST00000567186.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	495					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGCACCTGGAGCTCTGAGT	0.642																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1483-1485)ctC>ctA		Vac14 homolog (S. cerevisiae)							39.0	42.0	41.0					16																	70778369		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70778369G>T	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1485C>A	16.37:g.70778369G>T							p.L495L	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			13	1745	-		Ovarian(137;0.0699)	495					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.1485C>A	CCDS10896.1																																																																																				0.642	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		66	295	1	0	1.356e-25	1	1.55723e-25	66	295				
RIC1	57589	broad.mit.edu	37	9	5774231	5774231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5774231C>A	ENST00000414202.2	+	26	4448	c.4257C>A	c.(4255-4257)gaC>gaA	p.D1419E	KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGACTTACGACTGTTCTGTGT	0.488																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(4255-4257)gaC>gaA		KIAA1432							75.0	63.0	67.0					9																	5774231		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5774231C>A																												ENST00000414202.2:c.4257C>A	9.37:g.5774231C>A	ENSP00000416696:p.Asp1419Glu					KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	p.D1419E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	26	4448	+		Acute lymphoblastic leukemia(23;0.154)	1419						Missense_Mutation	SNP	ENST00000414202.2	37	c.4257C>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.100027|3.100027	0.56183|0.56183	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.7|5.7	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50650|0.50650	0.1628|0.1628	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.58970|.	0.984;0.984|.	D;D|.	0.70016|.	0.967;0.967|.	T|T	0.45323|0.45323	-0.9269|-0.9269	9|5	0.72032|.	D|.	0.01|.	-18.8188|-18.8188	10.5742|10.5742	0.45217|0.45217	0.0:0.8536:0.0:0.1464|0.0:0.8536:0.0:0.1464	.|.	1303;1419|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	E|M	1419;1340;1303|1311	.|.	ENSP00000416696:D1419E|.	D|L	+|+	3|1	2|2	KIAA1432|KIAA1432	5764231|5764231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.787000|2.787000	0.47798|0.47798	1.413000|1.413000	0.46997|0.46997	0.462000|0.462000	0.41574|0.41574	GAC|CTG		0.488	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			54	203	1	0	1.59911e-31	1	1.88313e-31	54	203				
VPS13A	23230	broad.mit.edu	37	9	79930362	79930362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79930362C>T	ENST00000360280.3	+	38	4866	c.4606C>T	c.(4606-4608)Caa>Taa	p.Q1536*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1536*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1536					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						AACCAGTGTGCAAACATGGAC	0.373																																						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.(4606-4608)Caa>Taa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							92.0	89.0	90.0					9																	79930362		2203	4300	6503	SO:0001587	stop_gained	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79930362C>T	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.4606C>T	9.37:g.79930362C>T	ENSP00000353422:p.Gln1536*					VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1536*	p.Q1536*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			38	4866	+			1536					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	ENST00000360280.3	37	c.4606C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	45	11.782466	0.99602	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.66	5.66	0.87406	.	0.637723	0.15298	N	0.269795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.7566	0.96296	0.0:1.0:0.0:0.0	.	.	.	.	X	1536;1497;1536;1536	.	ENSP00000349985:Q1536X	Q	+	1	0	VPS13A	79120182	1.000000	0.71417	0.974000	0.42286	0.939000	0.58152	4.827000	0.62723	2.671000	0.90904	0.563000	0.77884	CAA		0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	298	0	0	0	1	0	7	298				
ABCA2	20	broad.mit.edu	37	9	139912431	139912431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139912431C>T	ENST00000371605.3	-	14	2234	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	ABCA2_ENST00000265662.5_Missense_Mutation_p.R697H|ABCA2_ENST00000341511.6_Missense_Mutation_p.R697H|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	696					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCACTCATCGCGTGTGTAGCA	0.642																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2089-2091)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 2							37.0	40.0	39.0					9																	139912431		1997	4174	6171	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912431C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2087G>A	9.37:g.139912431C>T	ENSP00000360666:p.Arg696His					ABCA2_ENST00000341511.6_Missense_Mutation_p.R697H|ABCA2_ENST00000371605.3_Missense_Mutation_p.R696H	p.R697H			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	15	2237	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	696					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2090G>A		.	.	.	.	.	.	.	.	.	.	c	20.8	4.049685	0.75846	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.94497	-3.44;-3.44;-3.44	3.35	3.35	0.38373	.	0.146870	0.42294	U	0.000739	D	0.94013	0.8082	N	0.17800	0.525	0.53005	D	0.999966	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.944	D	0.94289	0.7527	10	0.48119	T	0.1	.	15.2097	0.73209	0.0:1.0:0.0:0.0	.	696;727	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	H	697;696;727;697	ENSP00000265662:R697H;ENSP00000360666:R696H;ENSP00000344155:R697H	ENSP00000265662:R697H	R	-	2	0	ABCA2	139032252	0.488000	0.25996	0.778000	0.31720	0.505000	0.33919	4.466000	0.60148	1.880000	0.54463	0.306000	0.20318	CGC		0.642	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		37	168	0	0	0	1	0	37	168				
ZC3H12A	80149	broad.mit.edu	37	1	37947216	37947216	+	Missense_Mutation	SNP	C	C	T	rs141438153		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37947216C>T	ENST00000373087.6	+	4	714	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACATCCTGCGGGAACTGGA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20754	0.0		0.001	False		,,,				2504	0.0					ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(598-600)Cgg>Tgg		zinc finger CCCH-type containing 12A							160.0	148.0	152.0					1																	37947216		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37947216C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.598C>T	1.37:g.37947216C>T	ENSP00000362179:p.Arg200Trp						p.R200W	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			4	714	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	200						Missense_Mutation	SNP	ENST00000373087.6	37	c.598C>T	CCDS417.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.30	3.354347	0.61293	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44881	0.91	5.42	2.49	0.30216	Ribonuclease Zc3h12a-like (1);	0.177358	0.50627	N	0.000109	T	0.47948	0.1473	L	0.36672	1.1	0.36793	D	0.884925	D	0.89917	1.0	D	0.77557	0.99	T	0.51124	-0.8745	10	0.59425	D	0.04	-16.5197	6.2099	0.20623	0.112:0.6504:0.1088:0.1288	.	200	Q5D1E8	ZC12A_HUMAN	W	200	ENSP00000362179:R200W	ENSP00000362174:R200W	R	+	1	2	ZC3H12A	37719803	0.525000	0.26290	0.956000	0.39512	0.919000	0.55068	0.474000	0.22148	0.014000	0.14944	-1.134000	0.01955	CGG		0.602	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		36	334	0	0	0	1	0	36	334				
AC015849.16	0	broad.mit.edu	37	17	34234042	34234042	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34234042G>T	ENST00000587132.1	-	0	3985																											AGGACCTGGAGGCTCAGTTGT	0.572																																						ENST00000587132.1																			0																																																			0							g.chr17:34234042G>T																													17.37:g.34234042G>T														0	3985	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.572	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			30	159	1	0	3.1745e-13	1	3.424e-13	30	159				
SIGLEC5	8778	broad.mit.edu	37	19	52131089	52131089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52131089T>C	ENST00000534261.2	-	6	1394	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	332					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACACTCACAGTAAACTGAGAG	0.562																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(994-996)tAc>tGc		sialic acid binding Ig-like lectin 5							23.0	26.0	25.0					19																	52131089		2194	4297	6491	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52131089T>C	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.995A>G	19.37:g.52131089T>C	ENSP00000473238:p.Tyr332Cys					SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.Y332C	p.Y332C			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	5	1133	-		all_neural(266;0.0726)	332						Missense_Mutation	SNP	ENST00000534261.2	37	c.995A>G	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	T	6.664	0.491118	0.12702	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.15603	2.41;2.41	3.63	-6.49	0.01890	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.34502	-0.9826	9	0.39692	T	0.17	.	5.1519	0.15015	0.5989:0.1984:0.0:0.2026	.	332	O15389	SIGL5_HUMAN	C	332	ENSP00000222107:Y332C;ENSP00000415200:Y332C	ENSP00000222107:Y332C	Y	-	2	0	SIGLEC5	56822901	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-1.955000	0.01523	-1.795000	0.01255	-0.421000	0.06004	TAC		0.562	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		52	188	0	0	0	1	0	52	188				
ZNF273	10793	broad.mit.edu	37	7	64389265	64389265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389265G>A	ENST00000476120.1	+	4	1630	c.1559G>A	c.(1558-1560)gGc>gAc	p.G520D	ZNF273_ENST00000319636.5_Missense_Mutation_p.G455D|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GAAGAATGTGGCAAAGCTTTT	0.378																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1558-1560)gGc>gAc		zinc finger protein 273							58.0	63.0	61.0					7																	64389265		2203	4300	6503	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64389265G>A	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1559G>A	7.37:g.64389265G>A	ENSP00000418719:p.Gly520Asp					ZNF273_ENST00000319636.5_Missense_Mutation_p.G455D|ZNF273_ENST00000527278.1_3'UTR	p.G520D	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1630	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	520					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.1559G>A	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733462	0.69189	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.07444	3.19;3.19	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	M	0.64080	1.96	0.42039	D	0.99106	B	0.24483	0.104	B	0.35727	0.209	T	0.05750	-1.0866	9	0.59425	D	0.04	.	7.3527	0.26700	0.0:0.0:1.0:0.0	.	520	Q14593	ZN273_HUMAN	D	520;455	ENSP00000418719:G520D;ENSP00000324518:G455D	ENSP00000324518:G455D	G	+	2	0	ZNF273	64026700	0.994000	0.37717	0.818000	0.32626	0.818000	0.46254	1.598000	0.36740	0.202000	0.20498	0.205000	0.17691	GGC		0.378	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			34	371	0	0	0	1	0	34	371				
PKN3	29941	broad.mit.edu	37	9	131482694	131482694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131482694C>A	ENST00000291906.4	+	22	2872	c.2479C>A	c.(2479-2481)Ctc>Atc	p.L827I	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	827	AGC-kinase C-terminal.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCAAGCCCTGCTCGCCCGCAC	0.667																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2479-2481)Ctc>Atc		protein kinase N3							107.0	108.0	108.0					9																	131482694		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482694C>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2479C>A	9.37:g.131482694C>A	ENSP00000291906:p.Leu827Ile						p.L827I	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			22	2872	+			827			AGC-kinase C-terminal.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.2479C>A	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154543	0.57259	.	.	ENSG00000160447	ENST00000291906	T	0.25912	1.77	4.97	4.97	0.65823	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.43010	0.1228	L	0.60067	1.865	0.42656	D	0.993462	D	0.69078	0.997	D	0.72625	0.978	T	0.29427	-1.0012	9	0.49607	T	0.09	.	9.3747	0.38275	0.0:0.9017:0.0:0.0983	.	827	Q6P5Z2	PKN3_HUMAN	I	827	ENSP00000291906:L827I	ENSP00000291906:L827I	L	+	1	0	PKN3	130522515	0.997000	0.39634	0.994000	0.49952	0.591000	0.36615	1.211000	0.32382	2.297000	0.77311	0.462000	0.41574	CTC		0.667	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		146	832	1	0	2.67835e-44	1	3.27695e-44	146	832				
FILIP1	27145	broad.mit.edu	37	6	76023250	76023250	+	Silent	SNP	C	C	T	rs147346630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023250C>T	ENST00000237172.7	-	5	2628	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.G667G|FILIP1_ENST00000393004.2_Silent_p.G766G	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	766										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAACCTCCTGCCCCATGTTTT	0.413																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2296-2298)ggG>ggA		filamin A interacting protein 1							127.0	131.0	129.0					6																	76023250		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76023250C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2298G>A	6.37:g.76023250C>T						FILIP1_ENST00000237172.7_Silent_p.G766G|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.G667G	p.G766G			Q7Z7B0	FLIP1_HUMAN			5	2519	-			766					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.2298G>A	CCDS4984.1																																																																																				0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		94	552	0	0	0	1	0	94	552				
PLEKHH2	130271	broad.mit.edu	37	2	43922354	43922354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43922354A>G	ENST00000282406.4	+	6	603	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	165					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGCAGTCAAAACTACAAGG	0.308																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(493-495)Aaa>Gaa		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							49.0	48.0	48.0					2																	43922354		2198	4295	6493	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43922354A>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.493A>G	2.37:g.43922354A>G	ENSP00000282406:p.Lys165Glu						p.K165E	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			6	603	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	165					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.493A>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863972	0.71949	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.58	5.58	0.84498	.	0.109197	0.64402	D	0.000007	T	0.57242	0.2040	L	0.43152	1.355	0.40111	D	0.976488	P;P	0.47034	0.524;0.889	B;P	0.51170	0.095;0.661	T	0.59418	-0.7458	10	0.48119	T	0.1	-20.5962	15.7573	0.78043	1.0:0.0:0.0:0.0	.	165;165	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	E	165	ENSP00000282406:K165E	ENSP00000282406:K165E	K	+	1	0	PLEKHH2	43775858	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	5.168000	0.64978	2.120000	0.65058	0.477000	0.44152	AAA		0.308	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		19	47	0	0	0	1	0	19	47				
ACSL3	2181	broad.mit.edu	37	2	223773626	223773626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223773626G>A	ENST00000357430.3	+	4	667	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	46					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E46*(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTTTCTCCGAGTCAAGACA	0.299			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		2	Substitution - Nonsense(2)	p.E46*(2)	lung(2)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(136-138)Gag>Aag		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						78.0	84.0	82.0					2																	223773626		2202	4298	6500	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223773626G>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.136G>A	2.37:g.223773626G>A	ENSP00000350012:p.Glu46Lys					ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	p.E46K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	4	667	+		Renal(207;0.0183)	46					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.136G>A	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611047	0.46631	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.33216	1.42;1.42	5.22	5.22	0.72569	.	0.319425	0.34362	N	0.004030	T	0.17365	0.0417	N	0.05078	-0.115	0.41100	D	0.985667	B	0.24483	0.104	B	0.15870	0.014	T	0.09058	-1.0692	10	0.19590	T	0.45	-18.1443	18.9699	0.92711	0.0:0.0:1.0:0.0	.	46	O95573	ACSL3_HUMAN	K	46	ENSP00000350012:E46K;ENSP00000375918:E46K	ENSP00000350012:E46K	E	+	1	0	ACSL3	223481870	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.483000	0.60264	2.703000	0.92315	0.655000	0.94253	GAG		0.299	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		95	494	0	0	0	1	0	95	494				
DGKG	1608	broad.mit.edu	37	3	185986607	185986607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185986607C>T	ENST00000265022.3	-	12	1638	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V367M|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	367					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGGCACCACACGCAGTGCCGC	0.602																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1099-1101)Gtg>Atg		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						70.0	56.0	60.0					3																	185986607		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185986607C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1099G>A	3.37:g.185986607C>T	ENSP00000265022:p.Val367Met					DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V367M	p.V367M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	12	1638	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		367					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1099G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218901	0.79464	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84730	-1.89;-1.89;-1.89	5.16	4.28	0.50868	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.978	D	0.90842	0.4724	10	0.56958	D	0.05	.	15.1375	0.72579	0.0:0.8579:0.1421:0.0	.	367;367	P49619-2;P49619	.;DGKG_HUMAN	M	367;367;118	ENSP00000265022:V367M;ENSP00000339777:V367M;ENSP00000395526:V118M	ENSP00000265022:V367M	V	-	1	0	DGKG	187469301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.755000	0.68750	1.319000	0.45190	0.563000	0.77884	GTG		0.602	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			36	169	0	0	0	1	0	36	169				
BEST4	266675	broad.mit.edu	37	1	45253349	45253349	+	Missense_Mutation	SNP	G	G	A	rs16832247	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45253349G>A	ENST00000372207.3	-	1	28	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	10						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCGGGCCTCCGCCACTTTGAG	0.572																																						ENST00000372207.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(28-30)gCg>gTg		bestrophin 4							53.0	63.0	59.0					1																	45253349		2203	4300	6503	SO:0001583	missense	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45253349G>A	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.29C>T	1.37:g.45253349G>A	ENSP00000361281:p.Ala10Val						p.A10V	NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN			1	28	-	Acute lymphoblastic leukemia(166;0.155)		10					Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	c.29C>T	CCDS514.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980682	0.74474	.	.	ENSG00000142959	ENST00000372207	D	0.98732	-5.1	4.68	2.79	0.32731	.	0.187640	0.45126	N	0.000399	D	0.99158	0.9709	H	0.94925	3.6	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.98974	1.0802	10	0.87932	D	0	-3.1961	7.1703	0.25715	0.0913:0.0:0.7384:0.1704	rs16832247;rs16832247	10	Q8NFU0	BEST4_HUMAN	V	10	ENSP00000361281:A10V	ENSP00000361281:A10V	A	-	2	0	BEST4	45025936	1.000000	0.71417	0.448000	0.26945	0.612000	0.37316	7.800000	0.85949	0.570000	0.29347	0.655000	0.94253	GCG		0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		44	473	0	0	0	1	0	44	473				
EHHADH	1962	broad.mit.edu	37	3	184971732	184971732	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184971732G>A	ENST00000231887.3	-	1	150				EHHADH_ENST00000440662.1_Intron|hsa-mir-5588_ENST00000581890.1_RNA|EHHADH_ENST00000475987.1_Intron|EHHADH_ENST00000456310.1_De_novo_Start_OutOfFrame	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase						fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GACCGAGCCCGTTACCTGATC	0.647																																						ENST00000456310.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24								enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						38.0	40.0	39.0					3																	184971732		2203	4299	6502	SO:0001627	intron_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184971732G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.74+4C>T	3.37:g.184971732G>A						EHHADH_ENST00000231887.3_Intron|EHHADH_ENST00000440662.1_Intron|EHHADH_ENST00000475987.1_Intron				Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		0	104	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)							A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Translation_Start_Site	SNP	ENST00000231887.3	37		CCDS33901.1																																																																																				0.647	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			44	152	0	0	0	1	0	44	152				
LINC00207	388910	broad.mit.edu	37	22	44965315	44965315	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44965315C>T	ENST00000605505.1	+	0	84					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						aggcgtgtgacatgggagtaa	0.448																																						ENST00000605505.1																			0				lung(3)	3															155.0	153.0	154.0					22																	44965315		1992	4157	6149			0							g.chr22:44965315C>T	BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44965315C>T								NR_028409.1						0	84	+									RNA	SNP	ENST00000605505.1	37																																																																																						0.448	LINC00207-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468439.1	NR_028409		43	202	0	0	0	1	0	43	202				
UBQLNL	143630	broad.mit.edu	37	11	5537044	5537044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537044C>T	ENST00000380184.1	-	1	891	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	210										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CGGGAAACTTCTGGGTTCTGC	0.468																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(628-630)Gaa>Aaa		ubiquilin-like							128.0	131.0	130.0					11																	5537044		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537044C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.628G>A	11.37:g.5537044C>T	ENSP00000369531:p.Glu210Lys					HBG2_ENST00000380259.2_Intron	p.E210K	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	891	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	210					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.628G>A	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087164	0.36855	.	.	ENSG00000175518	ENST00000380184	T	0.59083	0.29	5.05	5.05	0.67936	.	0.000000	0.51477	D	0.000085	T	0.78142	0.4237	M	0.87682	2.9	0.48571	D	0.999671	D	0.89917	1.0	D	0.80764	0.994	T	0.81837	-0.0749	10	0.87932	D	0	.	13.8389	0.63426	0.0:1.0:0.0:0.0	.	210	Q8IYU4	UBQLN_HUMAN	K	210	ENSP00000369531:E210K	ENSP00000369531:E210K	E	-	1	0	UBQLNL	5493620	0.995000	0.38212	1.000000	0.80357	0.042000	0.13812	4.775000	0.62346	2.615000	0.88500	0.650000	0.86243	GAA		0.468	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		145	639	0	0	0	1	0	145	639				
USP13	8975	broad.mit.edu	37	3	179499528	179499528	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179499528A>G	ENST00000263966.3	+	20	2886	c.2415A>G	c.(2413-2415)acA>acG	p.T805T	USP13_ENST00000496897.1_Splice_Site_p.T740T	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	805	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTCACAGCATATGAGCTAT	0.378																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.e20-1		ubiquitin specific peptidase 13 (isopeptidase T-3)							126.0	109.0	115.0					3																	179499528		2203	4300	6503	SO:0001630	splice_region_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179499528A>G	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2414-1A>G	3.37:g.179499528A>G						USP13_ENST00000496897.1_Splice_Site_p.T740_splice	p.T805_splice	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		20	2886	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		805					A8K2S3|B4DYF3|D3DNS2|Q96B25	Splice_Site	SNP	ENST00000263966.3	37	c.2413_splice	CCDS3235.1																																																																																				0.378	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		Silent	57	252	0	0	0	1	0	57	252				
MUSK	4593	broad.mit.edu	37	9	113547872	113547872	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113547872A>G	ENST00000374448.4	+	13	1786	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	MUSK_ENST00000374438.1_Missense_Mutation_p.N67S|MUSK_ENST00000189978.5_Missense_Mutation_p.N551S|MUSK_ENST00000416899.2_Missense_Mutation_p.N543S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	551					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTCATCCCAACCCCATGTAC	0.498																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1627-1629)aAc>aGc		muscle, skeletal, receptor tyrosine kinase							238.0	228.0	231.0					9																	113547872		1979	4164	6143	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547872A>G	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1652A>G	9.37:g.113547872A>G	ENSP00000363571:p.Asn551Ser					MUSK_ENST00000374448.4_Missense_Mutation_p.N551S|MUSK_ENST00000374438.1_Missense_Mutation_p.N67S|MUSK_ENST00000189978.5_Missense_Mutation_p.N551S	p.N543S			O15146	MUSK_HUMAN			11	1754	+			551					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1628A>G	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659946	0.88154	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88431	-0.8;-2.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.94182	0.7433	10	0.66056	D	0.02	.	15.429	0.75077	1.0:0.0:0.0:0.0	.	551	O15146	MUSK_HUMAN	S	557;551;551;465;465;67;549;67	ENSP00000363571:N551S;ENSP00000363561:N67S	ENSP00000189978:N557S	N	+	2	0	MUSK	112587693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.890000	0.92477	2.241000	0.73720	0.533000	0.62120	AAC		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				120	755	0	0	0	1	0	120	755				
ZNF268	10795	broad.mit.edu	37	12	133778993	133778993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133778993C>T	ENST00000536435.2	+	6	1051	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.Q80*|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.Q241*	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	241					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TAAACATGAGCAAACTGTTAT	0.313																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(721-723)Caa>Taa		zinc finger protein 268							42.0	42.0	42.0					12																	133778993		1843	4085	5928	SO:0001587	stop_gained	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133778993C>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.721C>T	12.37:g.133778993C>T	ENSP00000444412:p.Gln241*					ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.Q80*|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.Q241*|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000539248.2_3'UTR	p.Q241*	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1051	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	241					Q8TDG8|Q96RH4|Q9BZJ9	Nonsense_Mutation	SNP	ENST00000536435.2	37	c.721C>T	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832828	0.50951	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	.	.	.	4.13	0.00634	0.14066	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5718	0.22543	0.4768:0.359:0.1641:0.0	.	.	.	.	X	241;241;80;80	.	.	Q	+	1	0	ZNF268	132289066	0.001000	0.12720	0.003000	0.11579	0.060000	0.15804	-0.163000	0.09997	0.099000	0.17552	0.637000	0.83480	CAA		0.313	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		5	90	0	0	0	1	0	5	90				
CHCHD7	79145	broad.mit.edu	37	8	57129954	57129954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57129954G>A	ENST00000355315.3	+	4	317	c.218G>A	c.(217-219)aGa>aAa	p.R73K	CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000523975.1_Missense_Mutation_p.R85K|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000523061.1_3'UTR|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K	NM_001011670.1|NM_001011671.1	NP_001011670.1|NP_001011671.1	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	73						mitochondrion (GO:0005739)			CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GCAGCAGAAAGAGATGAAATC	0.343			T	PLAG1	salivary adenoma																																	ENST00000523975.1				Dom	yes		8	8q11.2	79145	T	coiled-coil-helix-coiled-coil-helix domain containing 7			E	PLAG1		salivary adenoma	CHCHD7/PLAG1(12)	0				endometrium(1)	1						c.(253-255)aGa>aAa		coiled-coil-helix-coiled-coil-helix domain containing 7							109.0	116.0	114.0					8																	57129954		2203	4300	6503	SO:0001583	missense	79145							g.chr8:57129954G>A	AK095922	CCDS34895.1, CCDS34896.1, CCDS6166.2, CCDS55232.1, CCDS55233.1	8q11.23	2012-10-15			ENSG00000170791	ENSG00000170791		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	28314	protein-coding gene	gene with protein product	"""COX23 cytochrome c oxidase assembly homolog (S. cerevisiae)"""	611238				20922212, 22842048	Standard	XR_428340		Approved	MGC2217, COX23	uc003xsv.3	Q9BUK0	OTTHUMG00000074081	ENST00000355315.3:c.218G>A	8.37:g.57129954G>A	ENSP00000347469:p.Arg73Lys					CHCHD7_ENST00000523061.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000355315.3_Missense_Mutation_p.R73K|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K|CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000521831.1_3'UTR	p.R85K			Q9BUK0	CHCH7_HUMAN	Epithelial(17;0.00159)|all cancers(17;0.0112)		5	402	+		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	73					A8K223|E9PBH3|J3KNE9|Q7Z588	Missense_Mutation	SNP	ENST00000355315.3	37	c.254G>A	CCDS34896.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549267	0.96488	.	.	ENSG00000170791	ENST00000355315;ENST00000303759;ENST00000523975;ENST00000396723	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	.	.	.	0.53688	D	0.999979	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.48055	-0.9068	9	0.66056	D	0.02	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	73;85	Q9BUK0;Q9BUK0-2	CHCH7_HUMAN;.	K	73;98;85;82	ENSP00000347469:R73K;ENSP00000306425:R98K;ENSP00000428917:R85K;ENSP00000379949:R82K	ENSP00000306425:R98K	R	+	2	0	CHCHD7	57292508	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.393000	0.79851	2.857000	0.98124	0.650000	0.86243	AGA		0.343	CHCHD7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378218.1	NM_024300		56	252	0	0	0	1	0	56	252				
HGD	3081	broad.mit.edu	37	3	120360511	120360511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120360511C>T	ENST00000283871.5	-	11	1263	c.804G>A	c.(802-804)tgG>tgA	p.W268*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	268					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AATTCCCGTGCCAGGCCACAA	0.433																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(802-804)tgG>tgA		homogentisate 1,2-dioxygenase							150.0	133.0	139.0					3																	120360511		2203	4300	6503	SO:0001587	stop_gained	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120360511C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.804G>A	3.37:g.120360511C>T	ENSP00000283871:p.Trp268*						p.W268*	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	11	1263	-			268					A8K417|B2R8Z0	Nonsense_Mutation	SNP	ENST00000283871.5	37	c.804G>A	CCDS3000.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	5.999160|5.999160|5.999160	0.97189|0.97189|0.97189	.|.|.	.|.|.	ENSG00000113924|ENSG00000113924|ENSG00000113924	ENST00000475447|ENST00000494453|ENST00000283871	.|.|.	.|.|.	.|.|.	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|.|0.254500	.|.|0.42964	.|.|D	.|.|0.000639	T|T|.	0.46288|0.46288|.	0.1385|0.1385|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.34129|0.34129|.	-0.9841|-0.9841|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-16.2027|-16.2027|-16.2027	18.3691|18.3691|18.3691	0.90401|0.90401|0.90401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	T|D|X	78|75|268	.|.|.	.|.|ENSP00000283871:W268X	A|G|W	-|-|-	1|2|3	0|0|0	HGD|HGD|HGD	121843201|121843201|121843201	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	7.278000|7.278000|7.278000	0.78587|0.78587|0.78587	2.885000|2.885000|2.885000	0.99019|0.99019|0.99019	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGC|TGG		0.433	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			63	342	0	0	0	1	0	63	342				
ZMAT1	84460	broad.mit.edu	37	X	101152901	101152901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101152901G>T	ENST00000372782.3	-	5	492	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	ZMAT1_ENST00000458570.1_De_novo_Start_InFrame|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	149						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AATTGCTTCAGTTTTTTAGCA	0.413																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(445-447)Ctg>Atg		zinc finger, matrin-type 1							148.0	113.0	125.0					X																	101152901		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101152901G>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.445C>A	X.37:g.101152901G>T	ENSP00000361868:p.Leu149Met					ZMAT1_ENST00000458570.1_De_novo_Start_InFrame|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M	p.L149M	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			5	492	-			446					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.445C>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.080019	0.08533	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.50813	0.73;0.73	4.59	0.583	0.17417	Zinc finger, U1-type (1);	1.020460	0.07905	N	0.973291	T	0.52533	0.1740	L	0.49256	1.55	0.20403	N	0.999909	D	0.76494	0.999	D	0.65233	0.933	T	0.37663	-0.9696	10	0.41790	T	0.15	0.002	0.3831	0.00398	0.2056:0.2103:0.272:0.3121	.	149	Q5H9K5	ZMAT1_HUMAN	M	149	ENSP00000361868:L149M;ENSP00000437529:L149M	ENSP00000361868:L149M	L	-	1	2	ZMAT1	101039557	0.441000	0.25626	0.020000	0.16555	0.163000	0.22366	0.108000	0.15396	0.084000	0.17077	0.502000	0.49764	CTG		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			111	308	1	0	1.09907e-53	1	1.37041e-53	111	308				
ENG	2022	broad.mit.edu	37	9	130587516	130587516	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130587516C>T	ENST00000373203.4	-	6	1210	c.810G>A	c.(808-810)caG>caA	p.Q270Q	ENG_ENST00000480266.1_5'UTR|ENG_ENST00000344849.3_Silent_p.Q270Q|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	270	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TCACCCAGATCTGCATGTTGT	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(808-810)caG>caA		endoglin							79.0	59.0	65.0					9																	130587516		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130587516C>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.810G>A	9.37:g.130587516C>T						ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Silent_p.Q270Q	p.Q270Q			P17813	EGLN_HUMAN			6	1090	-			270					Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.810G>A	CCDS48029.1																																																																																				0.602	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			31	162	0	0	0	1	0	31	162				
PROKR1	10887	broad.mit.edu	37	2	68873141	68873141	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68873141T>C	ENST00000303786.3	+	2	608	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	63					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGCCAAGATTGTCATTGGG	0.507																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(187-189)aTt>aCt		prokineticin receptor 1							229.0	199.0	209.0					2																	68873141		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873141T>C	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.188T>C	2.37:g.68873141T>C	ENSP00000303775:p.Ile63Thr					PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T	p.I63T			Q8TCW9	PKR1_HUMAN			2	608	+			63					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.188T>C	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495363	0.64186	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38240	1.15;1.15	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.67397	2.05	0.58432	D	0.999993	P	0.38250	0.624	B	0.40864	0.342	T	0.27971	-1.0058	10	0.36615	T	0.2	.	13.3807	0.60766	0.0:0.0:0.0:1.0	.	63	Q8TCW9	PKR1_HUMAN	T	63	ENSP00000303775:I63T;ENSP00000377874:I63T	ENSP00000303775:I63T	I	+	2	0	PROKR1	68726645	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.539000	0.67199	2.330000	0.79161	0.528000	0.53228	ATT		0.507	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			222	606	0	0	0	1	0	222	606				
ZNF37A	7587	broad.mit.edu	37	10	38403694	38403694	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38403694G>A	ENST00000361085.5	+	5	372	c.27G>A	c.(25-27)tcG>tcA	p.S9S	ZNF37A_ENST00000351773.3_Silent_p.S9S|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GATCAGTGTCGTTTAGGGATG	0.453																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(25-27)tcG>tcA		zinc finger protein 37A							141.0	133.0	135.0					10																	38403694		2203	4300	6503	SO:0001819	synonymous_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38403694G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.27G>A	10.37:g.38403694G>A						ZNF37A_ENST00000361085.4_Silent_p.S9S|ZNF37A_ENST00000479469.1_3'UTR	p.S9S	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			6	857	+			9			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.27G>A	CCDS31183.1																																																																																				0.453	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		106	448	0	0	0	1	0	106	448				
TMEM98	26022	broad.mit.edu	37	17	31266550	31266550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31266550G>A	ENST00000579849.1	+	7	900	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	157						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACTCCTGGACGCACGGTGAGA	0.532																																						ENST00000579849.1																			0				kidney(2)|large_intestine(1)	3						c.(469-471)Gca>Aca		transmembrane protein 98							142.0	114.0	123.0					17																	31266550		2203	4300	6503	SO:0001583	missense	26022					endoplasmic reticulum|integral to membrane		g.chr17:31266550G>A	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.469G>A	17.37:g.31266550G>A	ENSP00000463245:p.Ala157Thr					TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T|TMEM98_ENST00000578289.1_Intron	p.A157T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		7	900	+		Ovarian(249;0.182)|Breast(31;0.244)	157					E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	37	c.469G>A	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301065	0.95601	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000439138	T;T	0.43688	0.94;0.94	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.55927	-0.8063	10	0.46703	T	0.11	-24.2618	17.7902	0.88550	0.0:0.0:1.0:0.0	.	157	Q9Y2Y6	TMM98_HUMAN	T	157	ENSP00000378138:A157T;ENSP00000406394:A157T	ENSP00000261713:A157T	A	+	1	0	TMEM98	28290663	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.097000	0.94193	2.813000	0.96785	0.655000	0.94253	GCA		0.532	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		46	212	0	0	0	1	0	46	212				
UBC	7316	broad.mit.edu	37	12	125397088	125397088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125397088G>A	ENST00000536769.1	-	1	2806	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.I410I|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.I334I			P0CG48	UBC_HUMAN	ubiquitin C	410	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTGTCTTGGATCTTTGCCT	0.517																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1228-1230)atC>atT		ubiquitin C							122.0	113.0	116.0					12																	125397088		2203	4282	6485	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397088G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1230C>T	12.37:g.125397088G>A						UBC_ENST00000546120.1_Silent_p.I334I|UBC_ENST00000339647.5_Silent_p.I410I|UBC_ENST00000538617.1_Intron	p.I410I			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2806	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		410			Ubiquitin-like 6.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1230C>T	CCDS9260.1																																																																																				0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		66	864	0	0	0	1	0	66	864				
PHLDB2	90102	broad.mit.edu	37	3	111603040	111603040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603040G>A	ENST00000431670.2	+	2	527	c.116G>A	c.(115-117)aGc>aAc	p.S39N	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	39						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGAGCCTCAGCCCAAAGAAA	0.433																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(115-117)aGc>aAc		pleckstrin homology-like domain, family B, member 2							140.0	142.0	141.0					3																	111603040		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603040G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.116G>A	3.37:g.111603040G>A	ENSP00000405405:p.Ser39Asn					PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N	p.S39N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	527	+			39					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.116G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	5.779	0.328165	0.10956	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.30182	1.54;1.54;1.56;1.56;1.54;1.56	5.87	4.06	0.47325	.	0.327773	0.38058	N	0.001831	T	0.14399	0.0348	N	0.11560	0.145	0.24589	N	0.99384	B;B;B;B;B	0.10296	0.0;0.003;0.001;0.0;0.0	B;B;B;B;B	0.11329	0.0;0.006;0.004;0.001;0.001	T	0.20773	-1.0265	10	0.16420	T	0.52	.	8.4181	0.32683	0.2311:0.0:0.7689:0.0	.	39;39;39;39;66	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	66;66;39;39;39;39;39;39;39	ENSP00000377500:S66N;ENSP00000405405:S39N;ENSP00000405292:S39N;ENSP00000418296:S39N;ENSP00000377502:S39N;ENSP00000418319:S39N	ENSP00000352764:S66N	S	+	2	0	PHLDB2	113085730	0.998000	0.40836	0.999000	0.59377	0.724000	0.41520	1.185000	0.32065	1.631000	0.50456	0.655000	0.94253	AGC		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		126	660	0	0	0	1	0	126	660				
ZNF250	58500	broad.mit.edu	37	8	146107485	146107485	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146107485G>T	ENST00000292579.7	-	6	1214	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.P361P|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGCACGTGTAGGGCTTCTCCC	0.582																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(1096-1098)ccC>ccA		zinc finger protein 250							121.0	92.0	102.0					8																	146107485		2203	4300	6503	SO:0001819	synonymous_variant	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107485G>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1098C>A	8.37:g.146107485G>T						ZNF250_ENST00000417550.2_Silent_p.P361P|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	p.P366P	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1214	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		366					D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	c.1098C>A	CCDS34972.1																																																																																				0.582	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		62	259	1	0	3.07184e-27	1	3.5546e-27	62	259				
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	G	A	rs141478890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.10_Silent_p.T165T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	165					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.T165T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CCTATATAACGATCTTCAACA	0.537																																						ENST00000550308.1																			1	Substitution - coding silent(1)	p.T165T(1)	skin(1)	NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(493-495)acG>acA		cytochrome P450, family 4, subfamily F, polypeptide 12							52.0	52.0	52.0					19																	15791299		2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15791299G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.495G>A	19.37:g.15791299G>A						CYP4F12_ENST00000324632.9_Silent_p.T165T	p.T165T	NM_023944.3	NP_076433.3					5	875	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.495G>A	CCDS42517.1																																																																																				0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			51	272	0	0	0	1	0	51	272				
MYO15A	51168	broad.mit.edu	37	17	18025661	18025661	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025661G>T	ENST00000205890.5	+	2	3885	c.3547G>T	c.(3547-3549)Gct>Tct	p.A1183S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1183					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCCTGGAGCTGCCTGCCT	0.637																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3547-3549)Gct>Tct		myosin XVA							36.0	44.0	41.0					17																	18025661		2034	4186	6220	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025661G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3547G>T	17.37:g.18025661G>T	ENSP00000205890:p.Ala1183Ser						p.A1183S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3885	+	all_neural(463;0.228)		1183			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3547G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.173760	0.38413	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	5.22	2.93	0.34026	.	.	.	.	.	T	0.79505	0.4457	L	0.38175	1.15	0.18873	N	0.999984	B	0.20261	0.043	B	0.16722	0.016	T	0.66488	-0.5911	9	0.36615	T	0.2	.	7.1014	0.25340	0.2546:0.0:0.7454:0.0	.	1183	Q9UKN7	MYO15_HUMAN	S	1183	ENSP00000205890:A1183S	ENSP00000205890:A1183S	A	+	1	0	MYO15A	17966386	0.002000	0.14202	0.006000	0.13384	0.214000	0.24535	0.483000	0.22292	0.949000	0.37715	0.561000	0.74099	GCT		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		57	310	1	0	4.45325e-31	1	5.23636e-31	57	310				
EEF2K	29904	broad.mit.edu	37	16	22268113	22268113	+	Silent	SNP	G	G	A	rs112106407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22268113G>A	ENST00000263026.5	+	7	1137	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	221	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AGGACAGACCGGGCAAGCCCC	0.597																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(661-663)ccG>ccA		eukaryotic elongation factor-2 kinase							128.0	90.0	103.0					16																	22268113		2197	4300	6497	SO:0001819	synonymous_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268113G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.663G>A	16.37:g.22268113G>A							p.P221P	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	7	1137	+			221			Alpha-type protein kinase.		Q8N588	Silent	SNP	ENST00000263026.5	37	c.663G>A	CCDS10604.1																																																																																				0.597	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		7	246	0	0	0	1	0	7	246				
ITSN1	6453	broad.mit.edu	37	21	35254750	35254750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35254750G>A	ENST00000381318.3	+	35	4833	c.4545G>A	c.(4543-4545)atG>atA	p.M1515I	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1515	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGTATAAAATGTATAAAACAG	0.433																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4543-4545)atG>atA		intersectin 1 (SH3 domain protein)							47.0	48.0	48.0					21																	35254750		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35254750G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4545G>A	21.37:g.35254750G>A	ENSP00000370719:p.Met1515Ile					ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I	p.M1515I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			35	4833	+			1515			PH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4545G>A	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.033321|4.033321	0.75504|0.75504	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442|ENST00000381284	T;T;T;T|.	0.61859|.	0.07;0.07;0.07;0.07|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73552|0.73552	0.3601|0.3601	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61080|.	0.989;0.943;0.943|.	D;D;D|.	0.75020|.	0.985;0.968;0.968|.	T|T	0.69343|0.69343	-0.5170|-0.5170	9|5	.|.	.|.	.|.	.|.	20.0545|20.0545	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1454;1510;1515|.	A8CTY3;A8CTX8;Q15811|.	.;.;ITSN1_HUMAN|.	I|I	1515;1515;1444;1510;1454|195	ENSP00000370719:M1515I;ENSP00000370685:M1515I;ENSP00000382301:M1510I;ENSP00000387377:M1454I|.	.|.	M|V	+|+	3|1	0|0	ITSN1|ITSN1	34176620|34176620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.433000|7.433000	0.80362|0.80362	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.433	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		41	159	0	0	0	1	0	41	159				
CEACAM6	4680	broad.mit.edu	37	19	42266125	42266125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42266125G>T	ENST00000199764.6	+	4	1170	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	318					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GATGATCACAGTCTCTGGTAA	0.468																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(952-954)Gtc>Ttc		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							102.0	93.0	96.0					19																	42266125		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42266125G>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.952G>T	19.37:g.42266125G>T	ENSP00000199764:p.Val318Phe					AC011513.4_ENST00000601409.1_RNA	p.V318F	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	4	1170	+			318					Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.952G>T	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249697	0.39797	.	.	ENSG00000086548	ENST00000199764	T	0.35789	1.29	2.15	-0.101	0.13618	Immunoglobulin-like fold (1);	.	.	.	.	T	0.66086	0.2754	H	0.97291	3.975	0.09310	N	1	D	0.69078	0.997	D	0.74023	0.982	T	0.53107	-0.8485	9	0.87932	D	0	.	3.8949	0.09135	0.425:0.0:0.575:0.0	.	318	P40199	CEAM6_HUMAN	F	318	ENSP00000199764:V318F	ENSP00000199764:V318F	V	+	1	0	CEACAM6	46957965	0.693000	0.27728	0.076000	0.20297	0.244000	0.25665	1.830000	0.39131	0.229000	0.21039	0.305000	0.20034	GTC		0.468	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			52	225	1	0	6.34439e-16	1	6.95021e-16	52	225				
TOP3A	7156	broad.mit.edu	37	17	18198077	18198077	+	Missense_Mutation	SNP	C	C	T	rs145416998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18198077C>T	ENST00000321105.5	-	10	1227	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	338					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCTCAACTTTCGAGAAGCCAG	0.433																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1012-1014)cGa>cAa		topoisomerase (DNA) III alpha		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	96.0	100.0		1013	5.2	1.0	17	dbSNP_134	100	0,8600		0,0,4300	no	missense	TOP3A	NM_004618.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	338/1002	18198077	1,13005	2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18198077C>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1013G>A	17.37:g.18198077C>T	ENSP00000321636:p.Arg338Gln					TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q|TOP3A_ENST00000540524.1_5'UTR	p.R338Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			10	1227	-			338					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1013G>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669499	0.67814	2.27E-4	0.0	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.24538	1.85;1.85	5.25	5.25	0.73442	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.66093	-0.6009	10	0.72032	D	0.01	-15.5167	19.1963	0.93690	0.0:1.0:0.0:0.0	.	243;338	B4DK80;Q13472	.;TOP3A_HUMAN	Q	338;243	ENSP00000321636:R338Q;ENSP00000442336:R243Q	ENSP00000321636:R338Q	R	-	2	0	TOP3A	18138802	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.692000	0.84203	2.610000	0.88304	0.591000	0.81541	CGA		0.433	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			60	213	0	0	0	1	0	60	213				
DENND4A	10260	broad.mit.edu	37	15	66044893	66044893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66044893C>T	ENST00000431932.2	-	4	593	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A129T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	129	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTAATATTTGCGGGGCGCCCA	0.358																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(385-387)Gca>Aca		DENN/MADD domain containing 4A							58.0	53.0	54.0					15																	66044893		1820	4069	5889	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66044893C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.385G>A	15.37:g.66044893C>T	ENSP00000396830:p.Ala129Thr					DENND4A_ENST00000431932.2_Missense_Mutation_p.A129T	p.A129T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			4	600	-			129			MABP.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.385G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635091	0.67130	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26810	1.71;1.71	5.1	4.19	0.49359	MABP domain (1);	0.054418	0.64402	N	0.000001	T	0.52484	0.1737	M	0.80183	2.485	0.80722	D	1	P;D;D	0.89917	0.945;1.0;1.0	P;D;D	0.87578	0.621;0.998;0.997	T	0.59616	-0.7421	10	0.87932	D	0	.	13.7123	0.62675	0.0:0.9252:0.0:0.0748	.	129;129;129	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	129	ENSP00000391167:A129T;ENSP00000396830:A129T	ENSP00000396830:A129T	A	-	1	0	DENND4A	63831947	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	7.747000	0.85070	1.268000	0.44264	0.563000	0.77884	GCA		0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		16	85	0	0	0	1	0	16	85				
TYRP1	7306	broad.mit.edu	37	9	12709023	12709023	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12709023C>A	ENST00000388918.5	+	8	1584	c.1455C>A	c.(1453-1455)ggC>ggA	p.G485G	TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Silent_p.G194G|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Silent_p.G195G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	485					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CAGTAGTTGGCGCTTTGTTAC	0.403									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(1453-1455)ggC>ggA		tyrosinase-related protein 1							189.0	175.0	180.0					9																	12709023		2203	4300	6503	SO:0001819	synonymous_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12709023C>A	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1455C>A	9.37:g.12709023C>A						TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Silent_p.G195G|TYRP1_ENST00000381137.2_Silent_p.G194G|RP11-3L8.3_ENST00000417638.1_RNA	p.G485G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	8	1584	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	485					P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	c.1455C>A	CCDS34990.1																																																																																				0.403	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		10	284	1	0	1.58986e-06	1	1.64048e-06	10	284				
MARK4	57787	broad.mit.edu	37	19	45805679	45805679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805679G>A	ENST00000262891.4	+	17	2301	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	MARK4_ENST00000300843.4_Missense_Mutation_p.D684N	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	657					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGCTGCTCCGATTCCCCTGG	0.652																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2050-2052)Gat>Aat		MAP/microtubule affinity-regulating kinase 4							157.0	166.0	163.0					19																	45805679		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805679G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1970G>A	19.37:g.45805679G>A	ENSP00000262891:p.Arg657Gln					MARK4_ENST00000262891.4_Missense_Mutation_p.R657Q	p.D684N	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2347	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.2050G>A	CCDS56097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.997807|3.997807	0.74818|0.74818	.|.	.|.	ENSG00000007047|ENSG00000007047	ENST00000300843|ENST00000262891	T|T	0.72051|0.53206	-0.62|0.63	5.4|5.4	4.35|4.35	0.52113|0.52113	.|Kinase-associated KA1 (2);	.|0.106561	.|0.40728	.|N	.|0.001033	T|T	0.51941|0.51941	0.1704|0.1704	M|M	0.72894|0.72894	2.215|2.215	0.26359|0.26359	N|N	0.977081|0.977081	D|D	0.56746|0.61080	0.977|0.989	P|P	0.46510|0.45377	0.519|0.478	T|T	0.55159|0.55159	-0.8184|-0.8184	9|10	0.87932|0.87932	D|D	0|0	.|.	14.0502|14.0502	0.64732|0.64732	0.0:0.1519:0.8481:0.0|0.0:0.1519:0.8481:0.0	.|.	684|657	Q96L34-2|Q96L34	.|MARK4_HUMAN	N|Q	684|657	ENSP00000300843:D684N|ENSP00000262891:R657Q	ENSP00000300843:D684N|ENSP00000262891:R657Q	D|R	+|+	1|2	0|0	MARK4|MARK4	50497519|50497519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.044000|7.044000	0.76578|0.76578	1.254000|1.254000	0.44035|0.44035	0.563000|0.563000	0.77884|0.77884	GAT|CGA		0.652	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		244	1112	0	0	0	1	0	244	1112				
PTCRA	171558	broad.mit.edu	37	6	42890844	42890844	+	Silent	SNP	C	C	T	rs373111406		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42890844C>T	ENST00000304672.1	+	2	219	c.138C>T	c.(136-138)gtC>gtT	p.V46V	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	46					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|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)			TGGTGGTGGTCTGCCTGGTCC	0.597																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(136-138)gtC>gtT		pre T-cell antigen receptor alpha		C		1,4405		0,1,2202	147.0	126.0	133.0		138	-1.8	1.0	6		133	0,8600		0,0,4300	no	coding-synonymous	PTCRA	NM_138296.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		46/282	42890844	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	171558					integral to membrane	receptor activity	g.chr6:42890844C>T	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.138C>T	6.37:g.42890844C>T						PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	p.V46V	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|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)		2	219	+	Colorectal(47;0.196)		46					Q5TFZ7	Silent	SNP	ENST00000304672.1	37	c.138C>T	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253776	0.22965	2.27E-4	0.0	ENSG00000171611	ENST00000418903	.	.	.	5.84	-1.76	0.08006	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	5	0.87932	D	0	-24.9793	0.5962	0.00736	0.2505:0.3307:0.1223:0.2965	.	.	.	.	F	57	.	ENSP00000407061:S57F	S	+	2	0	PTCRA	42998822	0.950000	0.32346	0.983000	0.44433	0.959000	0.62525	-0.313000	0.08103	-0.353000	0.08224	-0.145000	0.13849	TCT		0.597	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		99	419	0	0	0	1	0	99	419				
SDPR	8436	broad.mit.edu	37	2	192711440	192711440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711440G>T	ENST00000304141.4	-	1	541	c.212C>A	c.(211-213)gCt>gAt	p.A71D	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CTCCTGCACAGCGTCTAGCAT	0.567																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(211-213)gCt>gAt		serum deprivation response	Phosphatidylserine(DB00144)						115.0	93.0	101.0					2																	192711440		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711440G>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.212C>A	2.37:g.192711440G>T	ENSP00000305675:p.Ala71Asp					AC098617.1_ENST00000424116.2_RNA	p.A71D	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	541	-			71						Missense_Mutation	SNP	ENST00000304141.4	37	c.212C>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013014	0.35511	.	.	ENSG00000168497	ENST00000304141	T	0.59772	0.24	4.62	2.81	0.32909	.	0.896645	0.09759	N	0.759491	T	0.53158	0.1779	M	0.61703	1.905	0.09310	N	1	P	0.42203	0.773	B	0.36766	0.232	T	0.40646	-0.9552	10	0.49607	T	0.09	-2.8248	10.7159	0.46013	0.1554:0.0:0.8446:0.0	.	71	O95810	SDPR_HUMAN	D	71	ENSP00000305675:A71D	ENSP00000305675:A71D	A	-	2	0	SDPR	192419685	0.276000	0.24211	0.431000	0.26735	0.965000	0.64279	3.132000	0.50523	0.674000	0.31244	0.484000	0.47621	GCT		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		82	252	1	0	4.63251e-29	1	5.40574e-29	82	252				
CCIN	881	broad.mit.edu	37	9	36169888	36169888	+	Missense_Mutation	SNP	G	G	A	rs548240661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169888G>A	ENST00000335119.2	+	1	500	c.389G>A	c.(388-390)cGt>cAt	p.R130H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	130					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCCATCTGCCGTGCCAACTGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		22001	0.001		0.0	False		,,,				2504	0.0					ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(388-390)cGt>cAt		calicin							136.0	120.0	125.0					9																	36169888		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169888G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.389G>A	9.37:g.36169888G>A	ENSP00000334996:p.Arg130His						p.R130H	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	500	+			130					Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.389G>A	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393719	0.25205	.	.	ENSG00000185972	ENST00000335119	T	0.65178	-0.14	5.54	4.63	0.57726	.	0.253147	0.25987	N	0.027031	T	0.53142	0.1778	N	0.25647	0.755	0.31130	N	0.707876	D	0.61080	0.989	P	0.48488	0.579	T	0.60449	-0.7261	10	0.62326	D	0.03	.	9.6298	0.39772	0.0937:0.0:0.9063:0.0	.	130	Q13939	CALI_HUMAN	H	130	ENSP00000334996:R130H	ENSP00000334996:R130H	R	+	2	0	CCIN	36159888	0.073000	0.21202	0.988000	0.46212	0.978000	0.69477	1.988000	0.40697	2.770000	0.95276	0.563000	0.77884	CGT		0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		78	422	0	0	0	1	0	78	422				
GCKR	2646	broad.mit.edu	37	2	27729396	27729396	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27729396C>A	ENST00000264717.2	+	11	981	c.918C>A	c.(916-918)acC>acA	p.T306T	GCKR_ENST00000424318.2_Silent_p.T116T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	306					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ATCAGGTGACCTACAGCCAAA	0.532																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(916-918)acC>acA		glucokinase (hexokinase 4) regulator							100.0	97.0	98.0					2																	27729396		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27729396C>A	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.918C>A	2.37:g.27729396C>A						GCKR_ENST00000424318.2_Silent_p.T116T	p.T306T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			11	981	+	Acute lymphoblastic leukemia(172;0.155)		306					A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.918C>A	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	2.471	-0.321828	0.05386	.	.	ENSG00000084734	ENST00000411584	.	.	.	4.66	2.87	0.33458	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51880	-0.8649	4	.	.	.	-4.4669	8.7283	0.34483	0.0:0.8131:0.0:0.1869	.	.	.	.	H	7	.	.	P	+	2	0	GCKR	27582900	1.000000	0.71417	0.970000	0.41538	0.338000	0.28826	1.012000	0.29924	0.579000	0.29504	-0.251000	0.11542	CCT		0.532	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		59	280	1	0	1.3268e-25	1	1.5239e-25	59	280				
FNDC3A	22862	broad.mit.edu	37	13	49741418	49741418	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49741418C>A	ENST00000492622.2	+	9	1321	c.1016C>A	c.(1015-1017)cCa>cAa	p.P339Q	FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	339	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GATCTCAAGCCAGCCATGGAT	0.303																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(1015-1017)cCa>cAa		fibronectin type III domain containing 3A							66.0	67.0	67.0					13																	49741418		2203	4294	6497	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49741418C>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1016C>A	13.37:g.49741418C>A	ENSP00000417257:p.Pro339Gln					FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q	p.P339Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	9	1321	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	339			Fibronectin type-III 1.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.1016C>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394644	0.83011	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.68624	-0.34;-0.34;-0.34	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.83649	0.5300	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.85438	0.1153	10	0.49607	T	0.09	-19.1357	15.8768	0.79170	0.0:1.0:0.0:0.0	.	283;339;339	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	Q	339;275;339;283	ENSP00000417257:P339Q;ENSP00000441831:P339Q;ENSP00000381362:P283Q	ENSP00000338579:P275Q	P	+	2	0	FNDC3A	48639419	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.625000	0.74248	2.427000	0.82271	0.557000	0.71058	CCA		0.303	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		31	311	1	0	6.90743e-12	1	7.39364e-12	31	311				
APOH	350	broad.mit.edu	37	17	64222213	64222213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64222213C>T	ENST00000205948.6	-	3	308	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	91	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCTCCATTTTCTAAGATTCCA	0.343																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(271-273)Gaa>Aaa		apolipoprotein H (beta-2-glycoprotein I)							100.0	92.0	95.0					17																	64222213		2203	4300	6503	SO:0001583	missense	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64222213C>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.271G>A	17.37:g.64222213C>T	ENSP00000205948:p.Glu91Lys						p.E91K	NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		3	308	-			91			Sushi 2.		B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	c.271G>A	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307477	0.40795	.	.	ENSG00000091583	ENST00000205948	T	0.63255	-0.03	5.55	3.51	0.40186	Complement control module (2);Sushi/SCR/CCP (3);	0.557452	0.20002	N	0.101316	T	0.50309	0.1608	M	0.64997	1.995	0.31164	N	0.704006	B	0.32338	0.365	B	0.30105	0.111	T	0.49588	-0.8924	10	0.06625	T	0.88	.	7.9847	0.30205	0.0:0.7538:0.16:0.0863	.	91	P02749	APOH_HUMAN	K	91	ENSP00000205948:E91K	ENSP00000205948:E91K	E	-	1	0	APOH	61652675	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.609000	0.24238	0.675000	0.31264	0.563000	0.77884	GAA		0.343	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		42	206	0	0	0	1	0	42	206				
TNFRSF1B	7133	broad.mit.edu	37	1	12266843	12266843	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12266843C>T	ENST00000376259.3	+	10	1241	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	384					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	TCACCTGCATCGTGAACGTCT	0.617																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1150-1152)atC>atT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						118.0	100.0	106.0					1																	12266843		2203	4300	6503	SO:0001819	synonymous_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12266843C>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1152C>T	1.37:g.12266843C>T						TNFRSF1B_ENST00000492361.1_3'UTR	p.I384I	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	10	1241	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	384					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	c.1152C>T	CCDS145.1																																																																																				0.617	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		77	307	0	0	0	1	0	77	307				
C6orf47	57827	broad.mit.edu	37	6	31626860	31626860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31626860C>T	ENST00000375911.1	-	1	1689	c.865G>A	c.(865-867)Gac>Aac	p.D289N	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	289						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TTTCCCGGGTCTCCCCTCTGC	0.602																																						ENST00000375911.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(865-867)Gac>Aac		chromosome 6 open reading frame 47							87.0	94.0	92.0					6																	31626860		1509	2708	4217	SO:0001583	missense	57827							g.chr6:31626860C>T	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.865G>A	6.37:g.31626860C>T	ENSP00000365076:p.Asp289Asn					C6orf47-AS1_ENST00000422049.1_RNA	p.D289N	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN			1	1689	-			289					B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	c.865G>A	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377454	0.42105	.	.	ENSG00000204439	ENST00000375911	T	0.34275	1.37	5.57	4.7	0.59300	.	0.204062	0.28365	N	0.015617	T	0.13072	0.0317	L	0.36672	1.1	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.03287	-1.1052	10	0.31617	T	0.26	-4.1094	10.8769	0.46917	0.0:0.9103:0.0:0.0897	.	289	O95873	CF047_HUMAN	N	289	ENSP00000365076:D289N	ENSP00000365076:D289N	D	-	1	0	C6orf47	31734839	0.081000	0.21417	0.951000	0.38953	0.913000	0.54294	1.516000	0.35856	2.633000	0.89246	0.650000	0.86243	GAC		0.602	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		31	668	0	0	0	1	0	31	668				
GIT2	9815	broad.mit.edu	37	12	110385234	110385234	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110385234A>G	ENST00000355312.3	-	15	1467	c.1468T>C	c.(1468-1470)Tct>Cct	p.S490P	GIT2_ENST00000553118.1_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000360185.4_Missense_Mutation_p.S440P|GIT2_ENST00000343646.5_Missense_Mutation_p.S410P	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	490					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTGTACTCAGAACCAGTTTGC	0.493																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1318-1320)Tct>Cct		G protein-coupled receptor kinase interacting ArfGAP 2							151.0	138.0	142.0					12																	110385234		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110385234A>G	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1468T>C	12.37:g.110385234A>G	ENSP00000347464:p.Ser490Pro					GIT2_ENST00000343646.5_Missense_Mutation_p.S410P|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000355312.3_Missense_Mutation_p.S490P|GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000547815.1_3'UTR	p.S440P			Q14161	GIT2_HUMAN			14	1482	-			490					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1318T>C	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859134	0.32884	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.73469	-0.68;-0.67;-0.75;-0.75;-0.71;-0.68;-0.7	5.97	2.31	0.28768	.	0.321561	0.39407	N	0.001373	T	0.55081	0.1898	N	0.21097	0.63	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.0;0.0;0.0	T	0.34551	-0.9824	10	0.29301	T	0.29	.	6.4932	0.22127	0.7301:0.1324:0.1375:0.0	.	442;442;490;428;490	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	P	490;440;442;410;442;490;439;428	ENSP00000347464:S490P;ENSP00000353312:S440P;ENSP00000346585:S442P;ENSP00000340938:S410P;ENSP00000391813:S442P;ENSP00000354282:S490P;ENSP00000448832:S439P	ENSP00000340938:S410P	S	-	1	0	GIT2	108869617	0.989000	0.36119	0.995000	0.50966	0.980000	0.70556	0.569000	0.23638	0.156000	0.19299	-0.472000	0.04984	TCT		0.493	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		91	432	0	0	0	1	0	91	432				
SLC5A7	60482	broad.mit.edu	37	2	108626966	108626966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108626966C>T	ENST00000264047.2	+	9	1668	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	464					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCTACCCTGGCTATTACCCTG	0.418																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1390-1392)ggC>ggT		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						110.0	108.0	108.0					2																	108626966		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626966C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1392C>T	2.37:g.108626966C>T						SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	p.G464G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			9	1668	+			464					Q53TF2	Silent	SNP	ENST00000264047.2	37	c.1392C>T	CCDS2074.1																																																																																				0.418	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			73	421	0	0	0	1	0	73	421				
N4BP3	23138	broad.mit.edu	37	5	177547450	177547450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547450C>A	ENST00000274605.5	+	3	961	c.602C>A	c.(601-603)cCt>cAt	p.P201H		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	201						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCGCAGTCCTGGTACTGGC	0.677																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(601-603)cCt>cAt		NEDD4 binding protein 3							52.0	56.0	55.0					5																	177547450		2203	4299	6502	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177547450C>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.602C>A	5.37:g.177547450C>A	ENSP00000274605:p.Pro201His						p.P201H	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	961	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	201					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.602C>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018433	0.19355	.	.	ENSG00000145911	ENST00000274605	T	0.52526	0.66	4.12	4.12	0.48240	.	0.545059	0.20739	N	0.086573	T	0.34366	0.0895	N	0.19112	0.55	0.42593	D	0.993259	B	0.32693	0.38	B	0.37198	0.243	T	0.09509	-1.0671	10	0.15066	T	0.55	-11.2901	14.6728	0.68956	0.0:1.0:0.0:0.0	.	201	O15049	N4BP3_HUMAN	H	201	ENSP00000274605:P201H	ENSP00000274605:P201H	P	+	2	0	N4BP3	177480056	0.006000	0.16342	0.719000	0.30619	0.142000	0.21351	1.188000	0.32102	2.598000	0.87819	0.655000	0.94253	CCT		0.677	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		149	479	1	0	4.44197e-71	1	5.64539e-71	149	479				
NUMBL	9253	broad.mit.edu	37	19	41173926	41173926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173926G>A	ENST00000252891.4	-	10	1444	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	NUMBL_ENST00000540131.1_Missense_Mutation_p.A385V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A385V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	426					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgGGCCTTGGCCAC	0.662																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1276-1278)gCc>gTc		numb homolog (Drosophila)-like							10.0	9.0	9.0					19																	41173926		2177	4257	6434	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41173926G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1277C>T	19.37:g.41173926G>A	ENSP00000252891:p.Ala426Val					NUMBL_ENST00000540131.1_Missense_Mutation_p.A385V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A385V	p.A426V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1444	-			426					Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.1277C>T	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	g	15.02	2.709666	0.48517	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.32515	1.45;1.45	4.58	3.54	0.40534	.	0.132179	0.48767	N	0.000162	T	0.19644	0.0472	N	0.19112	0.55	0.35862	D	0.82753	P;P	0.47762	0.9;0.9	B;B	0.40741	0.339;0.339	T	0.18840	-1.0324	10	0.37606	T	0.19	-10.0826	11.6372	0.51211	0.0887:0.0:0.9113:0.0	.	426;426	A8K033;Q9Y6R0	.;NUMBL_HUMAN	V	426;385	ENSP00000252891:A426V;ENSP00000442759:A385V	ENSP00000252891:A426V	A	-	2	0	NUMBL	45865766	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.327000	0.72910	1.149000	0.42402	0.543000	0.68304	GCC		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		9	37	0	0	0	1	0	9	37				
OR4C11	219429	broad.mit.edu	37	11	55371093	55371093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371093T>C	ENST00000302231.4	-	1	781	c.757A>G	c.(757-759)Ata>Gta	p.I253V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TATATGAATATACATGGGCCA	0.443																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(757-759)Ata>Gta		olfactory receptor, family 4, subfamily C, member 11							67.0	57.0	60.0					11																	55371093		2179	4005	6184	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371093T>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.757A>G	11.37:g.55371093T>C	ENSP00000306651:p.Ile253Val						p.I253V	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	781	-			253					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.757A>G	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256781	0.22965	.	.	ENSG00000172188	ENST00000302231	T	0.38887	1.11	4.12	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.112156	0.39083	N	0.001478	T	0.39091	0.1065	L	0.49640	1.575	0.09310	N	0.999997	B	0.25312	0.123	B	0.34590	0.186	T	0.38824	-0.9643	10	0.54805	T	0.06	.	8.5156	0.33244	0.0:0.0955:0.0:0.9045	.	253	Q6IEV9	OR4CB_HUMAN	V	253	ENSP00000306651:I253V	ENSP00000306651:I253V	I	-	1	0	OR4C11	55127669	0.000000	0.05858	0.836000	0.33094	0.019000	0.09904	-0.592000	0.05747	0.755000	0.32990	0.391000	0.25812	ATA		0.443	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		87	348	0	0	0	1	0	87	348				
IGHV3-30	28439	broad.mit.edu	37	14	106791220	106791220	+	RNA	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106791220A>T	ENST00000390613.2	-	0	215									immunoglobulin heavy variable 3-30																		CTGAAGGTGAATCCAGAGGCT	0.562																																						ENST00000390613.2																			0																				97.0	155.0	137.0					14																	106791220		1900	4144	6044			0							g.chr14:106791220A>T	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791220A>T														0	215	-									RNA	SNP	ENST00000390613.2	37																																																																																						0.562	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		44	1492	0	0	0	1	0	44	1492				
SEC24C	9632	broad.mit.edu	37	10	75529125	75529125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75529125C>A	ENST00000339365.2	+	19	2607	c.2445C>A	c.(2443-2445)agC>agA	p.S815R	SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000496827.1_3'UTR|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R|SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	815					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)|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(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTTACACCAGCTGTGCAGGGC	0.537																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2443-2445)agC>agA		SEC24 family member C							33.0	30.0	31.0					10																	75529125		2203	4300	6503	SO:0001583	missense	9632				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	protein binding|zinc ion binding	g.chr10:75529125C>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2445C>A	10.37:g.75529125C>A	ENSP00000343405:p.Ser815Arg					SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R|SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R	p.S815R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			19	2607	+	Prostate(51;0.0112)		815					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2445C>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807703	0.70797	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.57	1.64	0.23874	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.80847	2.515	0.80722	D	1	P;D	0.62365	0.951;0.991	P;P	0.58928	0.529;0.848	T	0.47661	-0.9100	10	0.59425	D	0.04	-7.4455	10.4308	0.44407	0.0:0.6285:0.0:0.3715	.	696;815	E7EP00;P53992	.;SC24C_HUMAN	R	63;815;63;815;696	ENSP00000446174:S63R;ENSP00000321845:S815R;ENSP00000445023:S63R;ENSP00000343405:S815R;ENSP00000402913:S696R	ENSP00000343405:S815R	S	+	3	2	SEC24C	75199131	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.774000	0.26675	0.723000	0.32274	0.313000	0.20887	AGC		0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			30	124	1	0	2.61193e-14	1	2.83483e-14	30	124				
LPHN1	22859	broad.mit.edu	37	19	14273951	14273951	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14273951T>G	ENST00000340736.6	-	6	974	c.677A>C	c.(676-678)aAc>aCc	p.N226T	LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	226	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGCTCCTTGTTGTAGAAGAC	0.612																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(676-678)aAc>aCc		latrophilin 1							143.0	101.0	115.0					19																	14273951		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273951T>G	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.677A>C	19.37:g.14273951T>G	ENSP00000340688:p.Asn226Thr					LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|CTB-55O6.12_ENST00000588387.1_RNA	p.N226T	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	974	-			226			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.677A>C	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379385	0.82682	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.88586	-2.4;-2.4	4.95	4.95	0.65309	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.67700	2.07	0.54753	D	0.999988	P;D	0.55605	0.931;0.972	P;P	0.58266	0.747;0.836	D	0.92216	0.5780	10	0.56958	D	0.05	.	12.5834	0.56403	0.0:0.0:0.0:1.0	.	221;226	O94910-2;O94910	.;LPHN1_HUMAN	T	226;221	ENSP00000340688:N226T;ENSP00000355328:N221T	ENSP00000340688:N226T	N	-	2	0	LPHN1	14134951	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.969000	0.87988	1.846000	0.53633	0.533000	0.62120	AAC		0.612	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		77	310	0	0	0	1	0	77	310				
CPNE4	131034	broad.mit.edu	37	3	131261625	131261625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131261625G>T	ENST00000512055.1	-	19	3441	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M|CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M|CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M			Q96A23	CPNE4_HUMAN	copine IV	439	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGATCAGCAGGATGAAGTAT	0.552																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1315-1317)Ctg>Atg		copine IV							79.0	73.0	75.0					3																	131261625		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261625G>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1315C>A	3.37:g.131261625G>T	ENSP00000421705:p.Leu439Met					CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M|CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M	p.L439M			Q96A23	CPNE4_HUMAN			19	3441	-			439			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1315C>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537760	0.65085	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.19	5.19	0.71726	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.81807	-0.0763	10	0.87932	D	0	-12.4491	11.784	0.52032	0.1271:0.0:0.8729:0.0	.	457;439	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	439;439;457;439;457	ENSP00000421705:L439M;ENSP00000411904:L439M;ENSP00000424853:L457M;ENSP00000423811:L439M;ENSP00000421646:L457M	ENSP00000411904:L439M	L	-	1	2	CPNE4	132744315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.661000	0.61518	2.437000	0.82529	0.655000	0.94253	CTG		0.552	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		58	209	1	0	2.40265e-35	1	2.8676e-35	58	209				
COQ9	57017	broad.mit.edu	37	16	57490417	57490417	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57490417C>T	ENST00000262507.6	+	4	449	c.380C>T	c.(379-381)tCt>tTt	p.S127F	COQ9_ENST00000567072.1_Splice_Site_p.S127F|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	127					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTTTGTAGTCTCTGGGTCTC	0.512																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.e4-1		coenzyme Q9							119.0	107.0	111.0					16																	57490417		2198	4300	6498	SO:0001630	splice_region_variant	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57490417C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.379-1C>T	16.37:g.57490417C>T						COQ9_ENST00000567072.1_Splice_Site_p.S127_splice|COQ9_ENST00000567933.1_Intron	p.S127_splice	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			4	449	+			127					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Splice_Site	SNP	ENST00000262507.6	37	c.378_splice	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578520	0.65878	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.57	5.57	0.84162	.	0.148137	0.64402	D	0.000008	D	0.82898	0.5137	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.989;0.977	D;D;P;P	0.71656	0.974;0.943;0.885;0.723	D	0.84756	0.0759	9	0.72032	D	0.01	-9.4722	18.5507	0.91063	0.0:1.0:0.0:0.0	.	127;127;127;127	B4E0U3;B4DIV2;B4DEE3;O75208	.;.;.;COQ9_HUMAN	F	127	.	ENSP00000262507:S127F	S	+	2	0	COQ9	56047918	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	5.403000	0.66338	2.620000	0.88729	0.563000	0.77884	TCT		0.512	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312	Missense_Mutation	87	374	0	0	0	1	0	87	374				
ZNF799	90576	broad.mit.edu	37	19	12503438	12503438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12503438C>A	ENST00000430385.3	-	3	370	c.170G>T	c.(169-171)aGa>aTa	p.R57I	ZNF799_ENST00000419318.1_Missense_Mutation_p.R25I|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R57I|ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCTGGGATATCTATATTGATC	0.299																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(73-75)aGa>aTa		zinc finger protein 799							84.0	87.0	86.0					19																	12503438		2201	4295	6496	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12503438C>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.170G>T	19.37:g.12503438C>A	ENSP00000411084:p.Arg57Ile					ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R57I|ZNF799_ENST00000430385.3_Missense_Mutation_p.R57I	p.R25I			Q96GE5	ZN799_HUMAN			3	823	-			57			KRAB.			Missense_Mutation	SNP	ENST00000430385.3	37	c.74G>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	5.363	0.252252	0.10185	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08458	3.09;3.2	1.18	-0.0066	0.14012	Krueppel-associated box (2);	.	.	.	.	T	0.04318	0.0119	N	0.17278	0.47	0.09310	N	1	B	0.19331	0.035	B	0.15484	0.013	T	0.41787	-0.9489	9	0.39692	T	0.17	.	2.2344	0.04004	0.0:0.2258:0.3164:0.4577	.	57	Q96GE5	ZN799_HUMAN	I	25;57	ENSP00000415278:R25I;ENSP00000411084:R57I	ENSP00000415278:R25I	R	-	2	0	ZNF799	12364438	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	-0.212000	0.09319	-0.027000	0.13873	-0.634000	0.03986	AGA		0.299	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		8	287	1	0	3.09899e-07	1	3.21319e-07	8	287				
GBX2	2637	broad.mit.edu	37	2	237075079	237075079	+	Splice_Site	SNP	G	G	A	rs368955018		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237075079G>A	ENST00000306318.4	-	2	922	c.525C>T	c.(523-525)gtC>gtT	p.V175V	GBX2_ENST00000551105.1_Splice_Site_p.R188W|GBX2_ENST00000465889.1_5'UTR|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	175				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGACAGCCCCGACTGAAAGCA	0.567																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.e2-1		gastrulation brain homeobox 2							88.0	96.0	93.0					2																	237075079		2203	4300	6503	SO:0001630	splice_region_variant	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237075079G>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.524-1C>T	2.37:g.237075079G>A						GBX2_ENST00000551105.1_Splice_Site_p.R188_splice|GBX2_ENST00000465889.1_5'UTR	p.V175_splice	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	922	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	175	LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).				B2RPH7|O43833|Q53RX5|Q9Y5Y1	Splice_Site	SNP	ENST00000306318.4	37	c.523_splice	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965486	0.34659	.	.	ENSG00000168505	ENST00000551105	.	.	.	4.39	1.17	0.20885	.	.	.	.	.	T	0.34803	0.0910	.	.	.	0.21220	N	0.999758	D	0.63880	0.993	P	0.44561	0.453	T	0.22312	-1.0220	7	0.87932	D	0	.	10.9983	0.47589	0.0:0.3533:0.5302:0.1165	.	188	F8VY47	.	W	188	.	ENSP00000448747:R188W	R	-	1	2	GBX2	236739818	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	0.408000	0.21065	0.302000	0.22762	-0.467000	0.05162	CGG		0.567	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485	Silent	27	807	0	0	0	1	0	27	807				
DDX50	79009	broad.mit.edu	37	10	70673252	70673252	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673252T>C	ENST00000373585.3	+	6	970	c.863T>C	c.(862-864)gTg>gCg	p.V288A	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	288	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CGACATGTTGTGCTTGATGAA	0.378																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(862-864)gTg>gCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							165.0	155.0	159.0					10																	70673252		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673252T>C	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.863T>C	10.37:g.70673252T>C	ENSP00000362687:p.Val288Ala						p.V288A	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			6	970	+			288			Helicase ATP-binding.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.863T>C	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316314	0.81469	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.34072	1.38	5.33	5.33	0.75918	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.107917	0.64402	D	0.000006	T	0.66005	0.2746	M	0.90019	3.08	0.51233	D	0.999912	D;D	0.63880	0.993;0.987	D;D	0.71414	0.973;0.95	T	0.74109	-0.3771	10	0.87932	D	0	-7.0503	14.1577	0.65428	0.0:0.0:0.0:1.0	.	288;288	Q9BQ39;B4DED6	DDX50_HUMAN;.	A	288	ENSP00000362687:V288A	ENSP00000362687:V288A	V	+	2	0	DDX50	70343258	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.698000	0.84413	2.138000	0.66242	0.379000	0.24179	GTG		0.378	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		79	361	0	0	0	1	0	79	361				
GLRA2	2742	broad.mit.edu	37	X	14548183	14548183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14548183A>G	ENST00000218075.4	+	1	534	c.4A>G	c.(4-6)Aac>Gac	p.N2D	GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	2					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AACAGGAATGAACCGGCAGCT	0.378																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(4-6)Aac>Gac		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						119.0	104.0	109.0					X																	14548183		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14548183A>G		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.4A>G	X.37:g.14548183A>G	ENSP00000218075:p.Asn2Asp					GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D	p.N2D	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			1	534	+	Hepatocellular(33;0.128)		2					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.4A>G	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609106	0.28623	.	.	ENSG00000101958	ENST00000218075;ENST00000355020	T;T	0.79141	-1.24;-1.24	5.47	4.28	0.50868	.	0.080983	0.52532	D	0.000071	T	0.67116	0.2859	N	0.08118	0	0.80722	D	1	P;P	0.49696	0.88;0.927	P;P	0.56563	0.636;0.801	T	0.62053	-0.6935	10	0.07644	T	0.81	.	10.5663	0.45175	0.8539:0.0:0.0:0.1461	.	2;2	P23416;P23416-2	GLRA2_HUMAN;.	D	2	ENSP00000218075:N2D;ENSP00000347123:N2D	ENSP00000218075:N2D	N	+	1	0	GLRA2	14458104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.505000	0.60421	0.777000	0.33496	0.441000	0.28932	AAC		0.378	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			95	340	0	0	0	1	0	95	340				
GRID1	2894	broad.mit.edu	37	10	87482893	87482893	+	Missense_Mutation	SNP	C	C	T	rs148165863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87482893C>T	ENST00000327946.7	-	12	1949	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	622					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ACGGAAGATTCGCCACCTGCG	0.602										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1864-1866)Gaa>Aaa		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	101.0	74.0	83.0		1864	5.8	0.1	10	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRID1	NM_017551.2	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	622/1010	87482893	2,13004	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87482893C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1864G>A	10.37:g.87482893C>T	ENSP00000330148:p.Glu622Lys	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	p.E622K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			12	1949	-			622					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1864G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	37	6.036777	0.97226	2.27E-4	1.16E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54071	0.59;0.59	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.358222	0.33959	N	0.004383	T	0.57036	0.2026	M	0.83774	2.66	0.80722	D	1	P	0.39847	0.691	B	0.31390	0.129	T	0.66516	-0.5904	10	0.72032	D	0.01	.	19.0942	0.93242	0.0:1.0:0.0:0.0	.	622	Q9ULK0	GRID1_HUMAN	K	622;193	ENSP00000330148:E622K;ENSP00000444455:E193K	ENSP00000330148:E622K	E	-	1	0	GRID1	87472873	1.000000	0.71417	0.118000	0.21660	0.398000	0.30690	7.743000	0.85020	2.762000	0.94881	0.561000	0.74099	GAA		0.602	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		30	151	0	0	0	1	0	30	151				
VPS13D	55187	broad.mit.edu	37	1	12395787	12395787	+	Silent	SNP	G	G	A	rs374262916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12395787G>A	ENST00000358136.3	+	39	8584	c.8454G>A	c.(8452-8454)tcG>tcA	p.S2818S	VPS13D_ENST00000356315.4_Silent_p.S2818S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAAGGAATCGTGGATGGCAG	0.408																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8452-8454)tcG>tcA		vacuolar protein sorting 13 homolog D (S. cerevisiae)		G	,	0,4406		0,0,2203	136.0	133.0	134.0		8454,8454	-11.2	0.0	1		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13D	NM_015378.2,NM_018156.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2818/4389,2818/4364	12395787	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12395787G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8454G>A	1.37:g.12395787G>A						VPS13D_ENST00000356315.4_Silent_p.S2818S	p.S2818S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	39	8584	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2818						Silent	SNP	ENST00000358136.3	37	c.8454G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.532045	0.13127	0.0	1.16E-4	ENSG00000048707	ENST00000011700	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63005	-0.6733	4	.	.	.	.	9.2345	0.37457	0.5866:0.251:0.1053:0.057	.	.	.	.	H	1641	.	.	R	+	2	0	VPS13D	12318374	0.000000	0.05858	0.026000	0.17262	0.978000	0.69477	-1.834000	0.01693	-3.631000	0.00129	-0.710000	0.03640	CGT		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		45	401	0	0	0	1	0	45	401				
ZNF282	8427	broad.mit.edu	37	7	148921240	148921240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921240G>A	ENST00000262085.3	+	8	1622	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	506					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGGCTGCGGCGGAGCCTCCTC	0.781																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1516-1518)cGg>cAg		zinc finger protein 282							5.0	5.0	5.0					7																	148921240		2087	4123	6210	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921240G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1517G>A	7.37:g.148921240G>A	ENSP00000262085:p.Arg506Gln					ZNF282_ENST00000479907.1_Intron	p.R506Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1622	+	Melanoma(164;0.15)		506					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1517G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894851	0.52121	.	.	ENSG00000170265	ENST00000262085	T	0.06768	3.26	3.82	2.01	0.26516	.	0.185108	0.26439	N	0.024368	T	0.05777	0.0151	L	0.32530	0.975	0.40470	D	0.980339	B	0.14438	0.01	B	0.04013	0.001	T	0.37291	-0.9712	10	0.29301	T	0.29	-21.4411	5.9703	0.19349	0.2448:0.0:0.7552:0.0	.	506	Q9UDV7	ZN282_HUMAN	Q	506	ENSP00000262085:R506Q	ENSP00000262085:R506Q	R	+	2	0	ZNF282	148552173	0.000000	0.05858	0.059000	0.19551	0.327000	0.28475	0.042000	0.13949	0.303000	0.22785	0.561000	0.74099	CGG		0.781	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		22	41	0	0	0	1	0	22	41				
UBE4A	9354	broad.mit.edu	37	11	118247314	118247314	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118247314C>A	ENST00000431736.2	+	10	1569	c.1497C>A	c.(1495-1497)atC>atA	p.I499I	UBE4A_ENST00000545354.1_5'Flank|UBE4A_ENST00000252108.3_Silent_p.I492I					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTGTTTGATCCCAGCTGTGC	0.418																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1474-1476)atC>atA		ubiquitination factor E4A							117.0	119.0	118.0					11																	118247314		2200	4296	6496	SO:0001819	synonymous_variant	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118247314C>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1497C>A	11.37:g.118247314C>A						UBE4A_ENST00000431736.2_Silent_p.I499I	p.I492I	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	10	1607	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	492						Silent	SNP	ENST00000431736.2	37	c.1476C>A	CCDS8396.1																																																																																				0.418	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		103	445	1	0	7.34945e-47	1	9.03725e-47	103	445				
PDYN	5173	broad.mit.edu	37	20	1961244	1961244	+	Missense_Mutation	SNP	C	C	T	rs376124198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961244C>T	ENST00000217305.2	-	4	715	c.490G>A	c.(490-492)Gct>Act	p.A164T	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.A164T|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	164					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A164P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCTCAGCGAGATAGAGT	0.597																																						ENST00000217305.2																			1	Substitution - Missense(1)	p.A164P(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(490-492)Gct>Act		prodynorphin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	107.0	104.0	105.0		490,490,490,490,490	-8.3	0.0	20		105	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	164/255,164/255,164/255,164/255,164/255	1961244	1,13005	2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961244C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.490G>A	20.37:g.1961244C>T	ENSP00000217305:p.Ala164Thr					PDYN_ENST00000540134.1_Missense_Mutation_p.A164T|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T	p.A164T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	715	-			164					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.490G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	6.449	0.451015	0.12223	2.27E-4	0.0	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80214	-1.35;-1.35;-1.35	4.71	-8.27	0.01017	.	2.758650	0.00899	N	0.002322	T	0.60038	0.2238	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.54543	-0.8278	10	0.10636	T	0.68	0.0995	8.2662	0.31815	0.0:0.2269:0.3021:0.4711	.	164	P01213	PDYN_HUMAN	T	164	ENSP00000440185:A164T;ENSP00000442259:A164T;ENSP00000217305:A164T	ENSP00000217305:A164T	A	-	1	0	PDYN	1909244	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.574000	0.05868	-1.675000	0.01459	-1.579000	0.00862	GCT		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			82	462	0	0	0	1	0	82	462				
BLVRA	644	broad.mit.edu	37	7	43843295	43843295	+	Missense_Mutation	SNP	C	C	T	rs377670975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43843295C>T	ENST00000402924.1	+	8	644	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	161					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GGAAGAAGAGCGGTTTGGCTT	0.577																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(481-483)Cgg>Tgg		biliverdin reductase A	NADH(DB00157)	C	TRP/ARG	0,4406		0,0,2203	175.0	181.0	179.0		481	3.4	1.0	7		179	1,8599	1.2+/-3.3	0,1,4299	no	missense	BLVRA	NM_000712.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	161/297	43843295	1,13005	2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43843295C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.481C>T	7.37:g.43843295C>T	ENSP00000385757:p.Arg161Trp					BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	p.R161W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			8	644	+			161					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.481C>T	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405472	0.62288	0.0	1.16E-4	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.25749	1.78;1.78	4.32	3.43	0.39272	Biliverdin reductase, catalytic (2);	1.288820	0.05404	N	0.541181	T	0.38295	0.1035	L	0.34521	1.04	0.27900	N	0.93901	D	0.76494	0.999	D	0.64321	0.924	T	0.26052	-1.0114	10	0.32370	T	0.25	.	9.8946	0.41311	0.204:0.796:0.0:0.0	.	161	P53004	BIEA_HUMAN	W	161	ENSP00000265523:R161W;ENSP00000385757:R161W	ENSP00000265523:R161W	R	+	1	2	BLVRA	43809820	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	1.469000	0.35343	0.923000	0.37045	-0.310000	0.09108	CGG		0.577	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		234	1130	0	0	0	1	0	234	1130				
POLR1E	64425	broad.mit.edu	37	9	37498087	37498087	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37498087G>T	ENST00000377798.4	+	9	865		c.e9-1		POLR1E_ENST00000442009.2_Splice_Site|POLR1E_ENST00000377792.3_Splice_Site	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa						gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCTTGTTTTAGCCATTGCACC	0.517																																					Ovarian(116;843 1620 18506 32459 34463)	ENST00000377792.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.e8-1		polymerase (RNA) I polypeptide E, 53kDa							101.0	94.0	97.0					9																	37498087		2203	4300	6503	SO:0001630	splice_region_variant	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37498087G>T	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.753-1G>T	9.37:g.37498087G>T						POLR1E_ENST00000377798.4_Splice_Site|POLR1E_ENST00000442009.2_Splice_Site				Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	8	1226	+								O75395|Q5JTE3	Splice_Site	SNP	ENST00000377798.4	37		CCDS6611.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605924	0.28623	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0731	0.80948	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR1E	37488087	1.000000	0.71417	0.966000	0.40874	0.085000	0.17905	4.805000	0.62561	2.941000	0.99782	0.655000	0.94253	.		0.517	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490	Intron	6	312	1	0	0.248553	1	0.24873	6	312				
DNAJC16	23341	broad.mit.edu	37	1	15893740	15893740	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15893740C>A	ENST00000375847.3	+	14	2089	c.1925C>A	c.(1924-1926)gCt>gAt	p.A642D	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.A642D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	642					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGAAATTTGCTTTGGAGGTC	0.463																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(1924-1926)gCt>gAt		DnaJ (Hsp40) homolog, subfamily C, member 16							131.0	123.0	126.0					1																	15893740		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15893740C>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1925C>A	1.37:g.15893740C>A	ENSP00000365007:p.Ala642Asp					DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.A642D	p.A642D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	14	2089	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	642					Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.1925C>A	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853325	0.91355	.	.	ENSG00000116138	ENST00000375847;ENST00000375849	T;T	0.73258	-0.71;-0.73	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.70275	2.135	0.43214	D	0.995088	D	0.89917	1.0	D	0.85130	0.997	D	0.84076	0.0382	10	0.54805	T	0.06	-15.9176	18.3197	0.90234	0.0:1.0:0.0:0.0	.	642	Q9Y2G8	DJC16_HUMAN	D	642	ENSP00000365007:A642D;ENSP00000365009:A642D	ENSP00000365007:A642D	A	+	2	0	DNAJC16	15766327	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.996000	0.76263	2.671000	0.90904	0.650000	0.86243	GCT		0.463	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		12	370	1	0	7.03913e-09	1	7.37812e-09	12	370				
RAD21	5885	broad.mit.edu	37	8	117878848	117878848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117878848C>T	ENST00000297338.2	-	2	408	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	41					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATACTCTCCACGCTGCTCTCT	0.388																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(121-123)Gtg>Atg		RAD21 homolog (S. pombe)							82.0	74.0	76.0					8																	117878848		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117878848C>T	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.121G>A	8.37:g.117878848C>T	ENSP00000297338:p.Val41Met					RAD21_ENST00000523547.1_5'UTR	p.V41M	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			2	408	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		41					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.121G>A	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576225	0.86645	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.83	4.96	0.65561	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81111	-0.1081	10	0.72032	D	0.01	-6.9429	14.7782	0.69746	0.0:0.9308:0.0:0.0692	.	41	O60216	RAD21_HUMAN	M	41	ENSP00000297338:V41M;ENSP00000429342:V41M;ENSP00000427923:V41M;ENSP00000430524:V41M;ENSP00000428158:V41M	ENSP00000297338:V41M	V	-	1	0	RAD21	117948029	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	1.469000	0.48083	0.563000	0.77884	GTG		0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		40	277	0	0	0	1	0	40	277				
AKR1C1	1645	broad.mit.edu	37	10	5014837	5014837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5014837C>T	ENST00000380872.4	+	7	934	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	248					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GGCAAAAAAGCACAAGCGAAC	0.597																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.(742-744)Cac>Tac		aldo-keto reductase family 1, member C1							67.0	73.0	71.0					10																	5014837		2203	4299	6502	SO:0001583	missense	1645							g.chr10:5014837C>T	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.742C>T	10.37:g.5014837C>T	ENSP00000370254:p.His248Tyr					AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y|AKR1C1_ENST00000477661.1_3'UTR	p.H248Y	NM_001353.5	NP_001344.2					7	934	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	c.742C>T	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.885545	0.00532	.	.	ENSG00000187134	ENST00000434459;ENST00000380872	T;T	0.50277	0.75;0.75	1.97	-0.0292	0.13919	NADP-dependent oxidoreductase domain (3);	0.510657	0.19036	N	0.124408	T	0.15739	0.0379	N	0.01686	-0.76	0.34677	D	0.724286	B	0.15473	0.013	B	0.26693	0.072	T	0.24835	-1.0149	10	0.07482	T	0.82	.	4.8837	0.13692	0.0:0.4389:0.0:0.5611	.	248	Q04828	AK1C1_HUMAN	Y	248	ENSP00000412248:H248Y;ENSP00000370254:H248Y	ENSP00000370254:H248Y	H	+	1	0	AKR1C1	5004837	0.976000	0.34144	0.060000	0.19600	0.317000	0.28152	0.882000	0.28186	-0.016000	0.14127	0.305000	0.20034	CAC		0.597	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		93	367	0	0	0	1	0	93	367				
OR52E8	390079	broad.mit.edu	37	11	5878211	5878211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5878211T>C	ENST00000537935.1	-	1	753	c.722A>G	c.(721-723)aAa>aGa	p.K241R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGAGAGCTTTGAGTCGAGC	0.413																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(721-723)aAa>aGa		olfactory receptor, family 52, subfamily E, member 8							84.0	94.0	91.0					11																	5878211		2141	4296	6437	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878211T>C	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.722A>G	11.37:g.5878211T>C	ENSP00000444054:p.Lys241Arg					TRIM5_ENST00000380027.1_Intron	p.K241R	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	753	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	241					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.722A>G	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116343	0.56505	.	.	ENSG00000183269	ENST00000537935	T	0.00360	7.86	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.121577	0.39407	N	0.001364	T	0.00552	0.0018	M	0.77313	2.365	0.34493	D	0.705219	P	0.44877	0.845	P	0.50825	0.651	T	0.65179	-0.6231	10	0.62326	D	0.03	.	12.8816	0.58020	0.0:0.0:0.0:1.0	.	241	Q6IFG1	O52E8_HUMAN	R	241	ENSP00000444054:K241R	ENSP00000444054:K241R	K	-	2	0	OR52E8	5834787	1.000000	0.71417	0.973000	0.42090	0.802000	0.45316	7.539000	0.82063	1.985000	0.57927	0.448000	0.29417	AAA		0.413	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		58	286	0	0	0	1	0	58	286				
DOPEY1	23033	broad.mit.edu	37	6	83866927	83866927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83866927C>T	ENST00000349129.2	+	35	6891	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2211					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTCCGTTTGCCACAGGTGCC	0.393																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(6631-6633)Cca>Tca		dopey family member 1							150.0	137.0	141.0					6																	83866927		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83866927C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6631C>T	6.37:g.83866927C>T	ENSP00000195654:p.Pro2211Ser					DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR	p.P2211S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	35	6891	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2211					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.6631C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428600	0.43122	.	.	ENSG00000083097	ENST00000349129	T	0.39592	1.07	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.35487	1.065	0.80722	D	1	B;P;B	0.39665	0.107;0.682;0.086	B;B;B	0.33890	0.017;0.172;0.013	T	0.02797	-1.1109	10	0.25751	T	0.34	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2102;2202;2211	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	2211	ENSP00000195654:P2211S	ENSP00000195654:P2211S	P	+	1	0	DOPEY1	83923646	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	CCA		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		80	378	0	0	0	1	0	80	378				
C18orf21	83608	broad.mit.edu	37	18	33557545	33557545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33557545G>A	ENST00000592875.1	+	4	1119	c.473G>A	c.(472-474)aGc>aAc	p.S158N	C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	158										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAAGGCAAGAGCCCAGCATCG	0.413																																						ENST00000592875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						c.(472-474)aGc>aAc		chromosome 18 open reading frame 21							89.0	86.0	87.0					18																	33557545		2203	4300	6503	SO:0001583	missense	83608							g.chr18:33557545G>A	BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.473G>A	18.37:g.33557545G>A	ENSP00000465517:p.Ser158Asn					C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	p.S158N	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN			4	1119	+			158					Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	c.473G>A	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540082	0.45176	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.53423	0.62	5.65	3.86	0.44501	.	0.320112	0.40554	N	0.001075	T	0.65811	0.2727	M	0.78637	2.42	0.31608	N	0.651927	D	0.89917	1.0	D	0.85130	0.997	T	0.71094	-0.4692	10	0.72032	D	0.01	.	9.0176	0.36179	0.1709:0.0:0.8291:0.0	.	158	Q32NC0	CR021_HUMAN	N	158;70	ENSP00000269194:S70N	ENSP00000269194:S70N	S	+	2	0	C18orf21	31811543	0.996000	0.38824	0.993000	0.49108	0.273000	0.26683	1.985000	0.40668	0.853000	0.35312	0.650000	0.86243	AGC		0.413	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		63	270	0	0	0	1	0	63	270				
TNIK	23043	broad.mit.edu	37	3	170857333	170857333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170857333G>A	ENST00000436636.2	-	14	1689	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000369326.5_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	449	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTAACTGTCGCCTGATGTAT	0.468																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1345-1347)Cga>Tga		TRAF2 and NCK interacting kinase							162.0	150.0	154.0					3																	170857333		1929	4144	6073	SO:0001587	stop_gained	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170857333G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1345C>T	3.37:g.170857333G>A	ENSP00000399511:p.Arg449*					TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*	p.R449*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		14	1689	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		449			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	c.1345C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	42	9.242205	0.99111	.	.	ENSG00000154310	ENST00000436636;ENST00000538048;ENST00000284483;ENST00000460047;ENST00000488470	.	.	.	5.63	4.72	0.59763	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.972	0.80027	0.0:0.0:0.8648:0.1352	.	.	.	.	X	449	.	ENSP00000284483:R449X	R	-	1	2	TNIK	172340027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.035000	0.64158	2.648000	0.89879	0.591000	0.81541	CGA		0.468	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		127	502	0	0	0	1	0	127	502				
NBAS	51594	broad.mit.edu	37	2	15564475	15564475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15564475C>A	ENST00000281513.5	-	23	2566	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H	NBAS_ENST00000441750.1_Missense_Mutation_p.Q847H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	847					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q847H(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGCTCTGGTCTGATACCAGT	0.478																																						ENST00000281513.5																			2	Substitution - Missense(2)	p.Q847H(2)	central_nervous_system(2)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2539-2541)caG>caT		neuroblastoma amplified sequence							220.0	161.0	181.0					2																	15564475		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15564475C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2541G>T	2.37:g.15564475C>A	ENSP00000281513:p.Gln847His					NBAS_ENST00000441750.1_Missense_Mutation_p.Q847H	p.Q847H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			23	2566	-			847					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2541G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.481462|2.481462	0.44147|0.44147	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.27256|.	2.29;2.29;1.68|.	5.37|5.37	2.34|2.34	0.29019|0.29019	Secretory pathway Sec39 (1);|.	0.769193|.	0.13456|.	N|.	0.386524|.	T|T	0.31857|0.31857	0.0810|0.0810	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;B|.	0.41569|.	0.755;0.024|.	B;B|.	0.37346|.	0.247;0.057|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.87932|.	D|.	0|.	.|.	7.3536|7.3536	0.26706|0.26706	0.1232:0.6827:0.1198:0.0744|0.1232:0.6827:0.1198:0.0744	.|.	847;847|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	847;847;14|15	ENSP00000413201:Q847H;ENSP00000281513:Q847H;ENSP00000396501:Q14H|.	ENSP00000281513:Q847H|.	Q|R	-|-	3|2	2|0	NBAS|NBAS	15481926|15481926	0.963000|0.963000	0.33076|0.33076	0.042000|0.042000	0.18584|0.18584	0.982000|0.982000	0.71751|0.71751	1.543000|1.543000	0.36147|0.36147	1.216000|1.216000	0.43427|0.43427	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		11	382	1	0	3.86212e-05	1	3.93988e-05	11	382				
SYNRG	11276	broad.mit.edu	37	17	35913384	35913384	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35913384T>C	ENST00000339208.6	-	14	2581	c.2441A>G	c.(2440-2442)gAt>gGt	p.D814G	SYNRG_ENST00000394378.2_Missense_Mutation_p.D736G|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G|SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000588194.1_5'Flank|SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	814					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGAAGGGAGATCTAAGGACTT	0.463																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2440-2442)gAt>gGt		synergin, gamma							131.0	123.0	126.0					17																	35913384		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913384T>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2441A>G	17.37:g.35913384T>C	ENSP00000343610:p.Asp814Gly					SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G|SYNRG_ENST00000394378.2_Missense_Mutation_p.D736G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G	p.D814G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	2581	-			814					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2441A>G	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822171	0.71028	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.65732	0.4;-0.17;-0.11	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998;0.998	T	0.79019	-0.1974	10	0.72032	D	0.01	-16.6853	15.7569	0.78037	0.0:0.0:0.0:1.0	.	653;736;736;736;814;814	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	G	814;653;814;736;736	ENSP00000005279:D814G;ENSP00000424893:D736G;ENSP00000377903:D736G	ENSP00000343610:D653G	D	-	2	0	SYNRG	32987497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAT		0.463	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		93	306	0	0	0	1	0	93	306				
ALMS1	7840	broad.mit.edu	37	2	73762007	73762007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73762007C>T	ENST00000264448.6	+	12	9946	c.9835C>T	c.(9835-9837)Cca>Tca	p.P3279S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3237S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3279					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTATTATGTTCCACAATTAAG	0.348																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(9835-9837)Cca>Tca		Alstrom syndrome 1							163.0	153.0	157.0					2																	73762007		1825	4076	5901	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73762007C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9835C>T	2.37:g.73762007C>T	ENSP00000264448:p.Pro3279Ser					ALMS1_ENST00000409009.1_Missense_Mutation_p.P3237S	p.P3279S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			12	9946	+			3279					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9835C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576900	0.45902	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08282	3.11;3.11	4.76	3.88	0.44766	.	0.191887	0.25881	N	0.027690	T	0.11665	0.0284	L	0.36672	1.1	0.80722	D	1	P;P;D;P	0.56521	0.873;0.946;0.976;0.873	B;P;P;B	0.52424	0.412;0.509;0.698;0.412	T	0.03139	-1.1068	10	0.54805	T	0.06	.	8.7908	0.34850	0.0:0.8977:0.0:0.1023	.	3279;3279;3237;3279	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	S	3237;3279	ENSP00000386627:P3237S;ENSP00000264448:P3279S	ENSP00000264448:P3279S	P	+	1	0	ALMS1	73615515	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.662000	0.46766	1.229000	0.43630	0.491000	0.48974	CCA		0.348	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		25	726	0	0	0	1	0	25	726				
PPAP2B	8613	broad.mit.edu	37	1	56990067	56990067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56990067G>A	ENST00000371250.3	-	3	1008	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	153					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGACGCAGGCGCCCTATGGAC	0.517																																						ENST00000371250.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(457-459)Cgc>Tgc		phosphatidic acid phosphatase type 2B							132.0	134.0	134.0					1																	56990067		2203	4300	6503	SO:0001583	missense	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56990067G>A	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.457C>T	1.37:g.56990067G>A	ENSP00000360296:p.Arg153Cys						p.R153C	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN			3	1008	-			153					B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	c.457C>T	CCDS604.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221226	0.95139	.	.	ENSG00000162407	ENST00000371250	D	0.82711	-1.64	5.7	5.7	0.88788	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97779	1.0231	10	0.87932	D	0	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	153	O14495	LPP3_HUMAN	C	153	ENSP00000360296:R153C	ENSP00000360296:R153C	R	-	1	0	PPAP2B	56762655	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.776000	0.99001	2.679000	0.91253	0.655000	0.94253	CGC		0.517	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		69	554	0	0	0	1	0	69	554				
GPR39	2863	broad.mit.edu	37	2	133402688	133402688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402688A>G	ENST00000329321.3	+	2	1340	c.871A>G	c.(871-873)Aca>Gca	p.T291A	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	291					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATTGTTGTGACATTGGCCGT	0.493																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(871-873)Aca>Gca		G protein-coupled receptor 39							80.0	71.0	74.0					2																	133402688		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402688A>G	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.871A>G	2.37:g.133402688A>G	ENSP00000327417:p.Thr291Ala					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.T291A	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1340	+			291					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.871A>G	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	A	4.756	0.140647	0.09083	.	.	ENSG00000183840	ENST00000329321	T	0.71103	-0.54	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.247415	0.41396	D	0.000889	T	0.44993	0.1320	N	0.04245	-0.25	0.80722	D	1	P	0.40282	0.711	B	0.37346	0.247	T	0.55945	-0.8060	10	0.02654	T	1	.	15.4493	0.75259	1.0:0.0:0.0:0.0	.	291	O43194	GPR39_HUMAN	A	291	ENSP00000327417:T291A	ENSP00000327417:T291A	T	+	1	0	GPR39	133119158	1.000000	0.71417	0.986000	0.45419	0.650000	0.38633	5.705000	0.68355	2.237000	0.73441	0.529000	0.55759	ACA		0.493	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			11	319	0	0	0	1	0	11	319				
SRSF6	6431	broad.mit.edu	37	20	42089579	42089579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42089579C>T	ENST00000244020.3	+	6	1017	c.911C>T	c.(910-912)cCg>cTg	p.P304L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	304	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TCCAATTCGCCGCTACCTGTT	0.493																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(910-912)cCg>cTg		serine/arginine-rich splicing factor 6							83.0	81.0	82.0					20																	42089579		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42089579C>T	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.911C>T	20.37:g.42089579C>T	ENSP00000244020:p.Pro304Leu						p.P304L	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			6	1017	+			304			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.911C>T	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038628	0.35989	.	.	ENSG00000124193	ENST00000244020	T	0.10960	2.82	5.93	5.93	0.95920	.	0.150239	0.64402	D	0.000014	T	0.14570	0.0352	M	0.66939	2.045	0.50813	D	0.999896	P	0.47545	0.897	B	0.35971	0.215	T	0.02668	-1.1126	10	0.39692	T	0.17	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	304	Q13247	SRSF6_HUMAN	L	304	ENSP00000244020:P304L	ENSP00000244020:P304L	P	+	2	0	SRSF6	41522993	.	.	0.942000	0.38095	0.881000	0.50899	.	.	2.803000	0.96430	0.585000	0.79938	CCG		0.493	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		87	358	0	0	0	1	0	87	358				
EDIL3	10085	broad.mit.edu	37	5	83362285	83362285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83362285G>A	ENST00000296591.5	-	7	1210	c.792C>T	c.(790-792)ggC>ggT	p.G264G	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Silent_p.G254G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	264	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTCATTGGTGCCTTTCACTT	0.348																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(790-792)ggC>ggT		EGF-like repeats and discoidin I-like domains 3							90.0	98.0	96.0					5																	83362285		2203	4300	6503	SO:0001819	synonymous_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83362285G>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.792C>T	5.37:g.83362285G>A						EDIL3_ENST00000380138.3_Silent_p.G254G|EDIL3_ENST00000510271.1_5'UTR	p.G264G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	7	1210	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	264			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	c.792C>T	CCDS4062.1																																																																																				0.348	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		40	182	0	0	0	1	0	40	182				
PPIEL	728448	broad.mit.edu	37	1	40011522	40011522	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40011522G>T	ENST00000440190.1	-	0	337				RP11-69E11.4_ENST00000417869.1_RNA																							TTTAGCAGTGGGCTCTCCCTA	0.527																																						ENST00000440190.1																			0																																																			0							g.chr1:40011522G>T																													1.37:g.40011522G>T														0	337	-									RNA	SNP	ENST00000440190.1	37																																																																																						0.527	RP11-69E11.4-003	KNOWN	basic	antisense	antisense	OTTHUMT00000025214.1			10	80	1	0	0.0581538	1	0.0582741	10	80				
TRIM68	55128	broad.mit.edu	37	11	4626372	4626372	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626372G>A	ENST00000300747.5	-	2	652	c.363C>T	c.(361-363)agC>agT	p.S121S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	121					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGGACTGGCTGCAGGCCT	0.552																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(361-363)agC>agT		tripartite motif containing 68							117.0	100.0	106.0					11																	4626372		2201	4298	6499	SO:0001819	synonymous_variant	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626372G>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.363C>T	11.37:g.4626372G>A							p.S121S	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	652	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	121					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	c.363C>T	CCDS31356.1																																																																																				0.552	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		30	454	0	0	0	1	0	30	454				
CHGA	1113	broad.mit.edu	37	14	93399081	93399081	+	Missense_Mutation	SNP	G	G	A	rs9658669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93399081G>A	ENST00000216492.5	+	7	1455	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	CHGA_ENST00000334654.4_Missense_Mutation_p.R241Q	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGCTGCGACGAGGCTGGAGG	0.697																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(1174-1176)cGa>cAa		chromogranin A (parathyroid secretory protein 1)		G	GLN/ARG	1,4379		0,1,2189	12.0	14.0	13.0		1175	2.9	0.1	14	dbSNP_119	13	2,8550		0,2,4274	no	missense	CHGA	NM_001275.3	43	0,3,6463	AA,AG,GG		0.0234,0.0228,0.0232	benign	392/458	93399081	3,12929	2190	4276	6466	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93399081G>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1175G>A	14.37:g.93399081G>A	ENSP00000216492:p.Arg392Gln					CHGA_ENST00000334654.4_Missense_Mutation_p.R241Q	p.R392Q	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	7	1455	+		all_cancers(154;0.0843)	392					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.1175G>A	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930877	0.18131	2.28E-4	2.34E-4	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.02197	4.4;4.4	4.71	2.86	0.33363	.	0.400442	0.21601	N	0.071941	T	0.02119	0.0066	L	0.48642	1.525	0.09310	N	1	P;B	0.39352	0.669;0.419	B;B	0.29440	0.053;0.102	T	0.48681	-0.9014	10	0.32370	T	0.25	-1.3963	8.8796	0.35367	0.3464:0.0:0.6536:0.0	rs9658669	241;392	G5E968;P10645	.;CMGA_HUMAN	Q	392;241	ENSP00000216492:R392Q;ENSP00000334023:R241Q	ENSP00000216492:R392Q	R	+	2	0	CHGA	92468834	0.991000	0.36638	0.139000	0.22197	0.339000	0.28857	3.094000	0.50227	0.092000	0.17331	-1.164000	0.01763	CGA		0.697	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		22	73	0	0	0	1	0	22	73				
LRIF1	55791	broad.mit.edu	37	1	111490729	111490729	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111490729T>C	ENST00000369763.4	-	4	2552	c.2162A>G	c.(2161-2163)aAt>aGt	p.N721S	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Missense_Mutation_p.N185S|LRIF1_ENST00000494675.1_Missense_Mutation_p.N185S	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATAATTTTTATTGAAGAAATG	0.368																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(2161-2163)aAt>aGt		ligand dependent nuclear receptor interacting factor 1							124.0	127.0	126.0					1																	111490729		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490729T>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2162A>G	1.37:g.111490729T>C	ENSP00000358778:p.Asn721Ser					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Missense_Mutation_p.N185S|LRIF1_ENST00000485275.2_Missense_Mutation_p.N185S	p.N721S	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			4	2552	-			721					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.2162A>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336498	0.24253	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.29397	1.97;1.57;1.57	5.71	-2.67	0.06059	.	0.857247	0.10376	N	0.682157	T	0.06781	0.0173	L	0.38531	1.155	0.09310	N	0.999991	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.004	T	0.40961	-0.9535	10	0.21014	T	0.42	-1.4343	6.857	0.24046	0.0:0.5097:0.1641:0.3262	.	185;721	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	S	721;185;185	ENSP00000358778:N721S;ENSP00000435259:N185S;ENSP00000432290:N185S	ENSP00000358778:N721S	N	-	2	0	LRIF1	111292252	0.025000	0.19082	0.872000	0.34217	0.864000	0.49448	-0.193000	0.09573	-0.391000	0.07763	0.482000	0.46254	AAT		0.368	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		66	633	0	0	0	1	0	66	633				
SH3D19	152503	broad.mit.edu	37	4	152069321	152069321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152069321G>T	ENST00000409252.2	-	10	1702	c.995C>A	c.(994-996)aCc>aAc	p.T332N	SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N|SH3D19_ENST00000409598.4_Missense_Mutation_p.T332N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N|SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	332	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGTTGGAATGGTTTTTCCATT	0.438																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(994-996)aCc>aAc		SH3 domain containing 19							110.0	97.0	101.0					4																	152069321		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152069321G>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.995C>A	4.37:g.152069321G>T	ENSP00000386848:p.Thr332Asn					SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000409252.2_Missense_Mutation_p.T332N|SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N|SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N	p.T332N			Q5HYK7	SH319_HUMAN			11	2162	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	332			Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.995C>A	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	6.001	0.368597	0.11352	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.69435	-0.4;0.23;-0.4;-0.4;-0.4;0.23;-0.4	5.57	-0.268	0.12934	.	2.146210	0.02286	N	0.069810	T	0.40719	0.1128	N	0.08118	0	0.09310	N	1	B;B;B;P	0.37176	0.246;0.021;0.006;0.586	B;B;B;B	0.30029	0.06;0.004;0.003;0.11	T	0.27706	-1.0066	10	0.14252	T	0.57	3.4621	6.4763	0.22037	0.6693:0.1355:0.1952:0.0	.	332;332;296;110	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	332;332;332;296;296;332;332	ENSP00000387030:T332N;ENSP00000302913:T332N;ENSP00000416708:T332N;ENSP00000404542:T296N;ENSP00000415694:T296N;ENSP00000386848:T332N;ENSP00000423449:T332N	ENSP00000302913:T332N	T	-	2	0	SH3D19	152288771	0.489000	0.26004	0.009000	0.14445	0.060000	0.15804	1.280000	0.33202	-0.275000	0.09219	0.655000	0.94253	ACC		0.438	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		76	322	1	0	1.4051e-37	1	1.68838e-37	76	322				
NT5C3A	51251	broad.mit.edu	37	7	33057137	33057137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:33057137C>T	ENST00000242210.7	-	7	698	c.622G>A	c.(622-624)Gat>Aat	p.D208N	NT5C3A_ENST00000396152.2_Missense_Mutation_p.D169N|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D157N|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D157N|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D169N|NT5C3A_ENST00000610140.1_Missense_Mutation_p.D203N|NT5C3A_ENST00000409787.1_Missense_Mutation_p.D169N	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	208					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TCTAGTACATCGCCGATTCCA	0.373																																						ENST00000396152.2																			0											c.(505-507)Gat>Aat		5'-nucleotidase, cytosolic IIIA							126.0	121.0	122.0					7																	33057137		2203	4300	6503	SO:0001583	missense	51251							g.chr7:33057137C>T	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.622G>A	7.37:g.33057137C>T	ENSP00000242210:p.Asp208Asn					NT5C3A_ENST00000409787.1_Missense_Mutation_p.D169N|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D169N|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D157N|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D157N|NT5C3A_ENST00000242210.7_Missense_Mutation_p.D208N|AVL9_ENST00000404479.1_Intron	p.D169N	NM_016489.12	NP_057573.2					8	807	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.505G>A	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549660	0.45383	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.19	4.32	0.51571	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84783	0.0774	10	0.22109	T	0.4	.	13.8255	0.63348	0.0:0.9262:0.0:0.0738	.	208;169	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	N	157;169;208;169;157;169	ENSP00000371039:D157N;ENSP00000379456:D169N;ENSP00000242210:D208N;ENSP00000385261:D169N;ENSP00000387166:D157N;ENSP00000387205:D169N	ENSP00000242210:D208N	D	-	1	0	NT5C3	33023662	1.000000	0.71417	0.140000	0.22221	0.043000	0.13939	7.818000	0.86416	1.186000	0.42985	0.655000	0.94253	GAT		0.373	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		79	351	0	0	0	1	0	79	351				
BTBD11	121551	broad.mit.edu	37	12	107914310	107914310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107914310G>T	ENST00000280758.5	+	2	1710	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	394						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGACCCACAGCGGTCAAACA	0.542																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1180-1182)caG>caT		BTB (POZ) domain containing 11							121.0	112.0	115.0					12																	107914310		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107914310G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1182G>T	12.37:g.107914310G>T	ENSP00000280758:p.Gln394His					BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H	p.Q394H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			2	1710	+			394					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1182G>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519401	0.44866	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.48201	1.25;1.32;1.29;0.82	4.1	2.22	0.28083	Histone-fold (1);	0.259153	0.33040	N	0.005353	T	0.52141	0.1716	L	0.38175	1.15	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.991	D;D;P	0.78314	0.991;0.979;0.793	T	0.49263	-0.8958	10	0.49607	T	0.09	.	7.2142	0.25951	0.3458:0.0:0.6542:0.0	.	394;394;394	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	H	394;394;394;28	ENSP00000280758:Q394H;ENSP00000413889:Q394H;ENSP00000447319:Q394H;ENSP00000407416:Q28H	ENSP00000280758:Q394H	Q	+	3	2	BTBD11	106438440	1.000000	0.71417	0.964000	0.40570	0.979000	0.70002	1.748000	0.38308	1.013000	0.39391	0.655000	0.94253	CAG		0.542	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		105	438	1	0	4.73232e-52	1	5.88258e-52	105	438				
FBN1	2200	broad.mit.edu	37	15	48779598	48779598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779598C>T	ENST00000316623.5	-	28	3829	c.3374G>A	c.(3373-3375)cGa>cAa	p.R1125Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1125	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACACCACCTCGGCATAGGAG	0.522																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(3373-3375)cGa>cAa		fibrillin 1							151.0	145.0	147.0					15																	48779598		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48779598C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3374G>A	15.37:g.48779598C>T	ENSP00000325527:p.Arg1125Gln						p.R1125Q	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	28	3829	-		all_lung(180;0.00279)	1125			EGF-like 17; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3374G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695941	0.68386	.	.	ENSG00000166147	ENST00000316623	D	0.91894	-2.93	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	N	0.11870	0.19	0.80722	D	1	P	0.47604	0.898	B	0.43251	0.413	D	0.88137	0.2842	10	0.46703	T	0.11	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1125	P35555	FBN1_HUMAN	Q	1125	ENSP00000325527:R1125Q	ENSP00000325527:R1125Q	R	-	2	0	FBN1	46566890	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	2.822000	0.48073	2.639000	0.89480	0.655000	0.94253	CGA		0.522	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			119	509	0	0	0	1	0	119	509				
MAPK7	5598	broad.mit.edu	37	17	19283132	19283132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283132C>T	ENST00000308406.5	+	3	656	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Silent_p.F90F|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Silent_p.F90F|B9D1_ENST00000468679.3_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.F90F(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTAATGCTTTCGATGTGGTGA	0.527																																						ENST00000308406.5																			1	Substitution - coding silent(1)	p.F90F(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(268-270)ttC>ttT		mitogen-activated protein kinase 7							114.0	107.0	109.0					17																	19283132		2203	4300	6503	SO:0001819	synonymous_variant	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19283132C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.270C>T	17.37:g.19283132C>T						MAPK7_ENST00000395602.4_Silent_p.F90F|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Silent_p.F90F|MAPK7_ENST00000571657.1_Intron	p.F90F	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			3	656	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		90			Protein kinase.|Required for binding to MAP2K5 (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	c.270C>T	CCDS11206.1																																																																																				0.527	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		78	377	0	0	0	1	0	78	377				
ALOX5	240	broad.mit.edu	37	10	45939272	45939272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45939272G>A	ENST00000374391.2	+	12	1723	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.G557D	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	557	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GTCAACTTCGGCCAGGTAGGC	0.697																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1669-1671)gGc>gAc		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						24.0	23.0	23.0					10																	45939272		2201	4298	6499	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45939272G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1670G>A	10.37:g.45939272G>A	ENSP00000363512:p.Gly557Asp					ALOX5_ENST00000542434.1_Missense_Mutation_p.G557D	p.G557D	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			12	1723	+		Lung SC(717;0.0257)	557			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1670G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408430	0.96051	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90324	-2.65;-2.65	5.23	5.23	0.72850	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.97434	1.0017	10	0.87932	D	0	-35.575	16.3342	0.83052	0.0:0.0:1.0:0.0	.	557;525;557	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	D	557	ENSP00000437634:G557D;ENSP00000363512:G557D	ENSP00000363512:G557D	G	+	2	0	ALOX5	45259278	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	9.652000	0.98499	2.723000	0.93209	0.650000	0.86243	GGC		0.697	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			6	66	0	0	0	1	0	6	66				
C2orf49	79074	broad.mit.edu	37	2	105954037	105954037	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105954037C>T	ENST00000258457.2	+	0	222				C2orf49_ENST00000410049.1_5'UTR|RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000437250.2_Missense_Mutation_p.A36V			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49						embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GGTCTCCTGGCGACGACCATG	0.652																																						ENST00000437250.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(106-108)gCg>gTg		chromosome 2 open reading frame 49							22.0	25.0	24.0					2																	105954037		2202	4297	6499	SO:0001623	5_prime_UTR_variant	79074					tRNA-splicing ligase complex		g.chr2:105954037C>T	BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.-8C>T	2.37:g.105954037C>T						C2orf49_ENST00000410049.1_5'UTR|C2orf49_ENST00000258457.2_5'UTR	p.A36V			Q9BVC5	ASHWN_HUMAN			1	222	+			0					B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	c.107C>T	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281240	0.80692	.	.	ENSG00000135974	ENST00000437250	T	0.50001	0.76	5.54	2.49	0.30216	.	.	.	.	.	T	0.41143	0.1146	.	.	.	0.30115	N	0.806218	.	.	.	.	.	.	T	0.50866	-0.8777	6	0.87932	D	0	.	1.2719	0.02022	0.2667:0.3896:0.1778:0.1659	.	.	.	.	V	36	ENSP00000400208:A36V	ENSP00000400208:A36V	A	+	2	0	C2orf49	105320469	0.957000	0.32711	1.000000	0.80357	0.977000	0.68977	-0.159000	0.10056	0.853000	0.35312	-0.140000	0.14226	GCG		0.652	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093		41	172	0	0	0	1	0	41	172				
PLEC	5339	broad.mit.edu	37	8	145024774	145024774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024774C>T	ENST00000322810.4	-	1	270	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCAAGCTGCGGGGCCGCCG	0.692																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(100-102)cGc>cAc		plectin							11.0	15.0	14.0					8																	145024774		2075	4178	6253	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024774C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.101G>A	8.37:g.145024774C>T	ENSP00000323856:p.Arg34His					PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron	p.R34H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			1	270	-			34			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.101G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	12.60	1.986930	0.35036	.	.	ENSG00000178209	ENST00000322810	T	0.76578	-1.03	4.9	1.53	0.23141	Plectin/S10, N-terminal (1);	0.165072	0.26927	U	0.021791	T	0.57169	0.2035	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.50668	-0.8801	10	0.72032	D	0.01	.	2.9172	0.05756	0.0:0.4038:0.2297:0.3665	.	34	Q15149	PLEC_HUMAN	H	34	ENSP00000323856:R34H	ENSP00000323856:R34H	R	-	2	0	PLEC	145096762	0.998000	0.40836	0.972000	0.41901	0.380000	0.30137	1.319000	0.33655	0.455000	0.26910	0.563000	0.77884	CGC		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	72	0	0	0	1	0	13	72				
MSL3	10943	broad.mit.edu	37	X	11783890	11783890	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11783890G>A	ENST00000312196.4	+	9	1276				MSL3_ENST00000380693.3_Intron|MSL3_ENST00000337339.2_Missense_Mutation_p.V405M|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000398527.2_Intron	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V405M(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GAGAGCCAGCGTGTACTTTGT	0.572																																						ENST00000337339.2																			1	Substitution - Missense(1)	p.V405M(1)	breast(1)	breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1213-1215)Gtg>Atg		male-specific lethal 3 homolog (Drosophila)							129.0	89.0	102.0					X																	11783890		2203	4300	6503	SO:0001627	intron_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783890G>A	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1171+42G>A	X.37:g.11783890G>A						MSL3_ENST00000380693.3_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000398527.2_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000312196.4_Intron	p.V405M	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1240	+			0					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1213G>A	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	0.682	-0.797841	0.02862	.	.	ENSG00000005302	ENST00000337339	T	0.08282	3.11	2.6	-5.21	0.02815	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39623	-0.9605	8	.	.	.	.	1.4471	0.02367	0.4259:0.2655:0.1792:0.1294	.	405	A6NHW8	.	M	405	ENSP00000338078:V405M	.	V	+	1	0	MSL3	11693811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.091000	0.00609	-2.620000	0.00440	-1.327000	0.01280	GTG		0.572	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		114	435	0	0	0	1	0	114	435				
KIAA0922	23240	broad.mit.edu	37	4	154525552	154525552	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154525552G>T	ENST00000409663.3	+	25	3437	c.3385G>T	c.(3385-3387)Gac>Tac	p.D1129Y	KIAA0922_ENST00000409959.3_Missense_Mutation_p.D1130Y|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1129						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCACCAGCCAGACTTGCCAGA	0.428																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3385-3387)Gac>Tac		KIAA0922							63.0	63.0	63.0					4																	154525552		2201	4292	6493	SO:0001583	missense	23240					integral to membrane		g.chr4:154525552G>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3385G>T	4.37:g.154525552G>T	ENSP00000386574:p.Asp1129Tyr					KIAA0922_ENST00000409959.3_Missense_Mutation_p.D1130Y|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y	p.D1129Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			25	3437	+	all_hematologic(180;0.093)	Renal(120;0.118)	1129					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3385G>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463610	0.43736	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.21361	2.29;2.01;2.29;2.02	5.98	5.14	0.70334	.	0.492803	0.23396	N	0.048640	T	0.40372	0.1114	L	0.47716	1.5	0.40617	D	0.98172	D;D;D	0.89917	1.0;0.99;0.983	D;D;P	0.75484	0.986;0.913;0.822	T	0.30851	-0.9964	10	0.72032	D	0.01	-16.3091	14.9496	0.71060	0.0682:0.0:0.9318:0.0	.	1046;1130;1129	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1129;1046;1130;907	ENSP00000386574:D1129Y;ENSP00000409663:D1046Y;ENSP00000386787:D1130Y;ENSP00000240487:D907Y	ENSP00000240487:D907Y	D	+	1	0	KIAA0922	154745002	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.047000	0.64232	1.531000	0.49152	0.655000	0.94253	GAC		0.428	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		54	557	1	0	4.96213e-28	1	5.76155e-28	54	557				
CCNK	8812	broad.mit.edu	37	14	99959071	99959071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99959071C>T	ENST00000389879.5	+	2	180	c.57C>T	c.(55-57)caC>caT	p.H19H	CCNK_ENST00000555049.1_Silent_p.H19H|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	19					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCTGGACCACACAAAGCCAT	0.458																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(55-57)caC>caT		cyclin K							67.0	64.0	65.0					14																	99959071		1904	4122	6026	SO:0001819	synonymous_variant	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99959071C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.57C>T	14.37:g.99959071C>T						CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.H19H	p.H19H	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			2	180	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	19					Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	ENST00000389879.5	37	c.57C>T	CCDS45160.1																																																																																				0.458	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			19	111	0	0	0	1	0	19	111				
TRRAP	8295	broad.mit.edu	37	7	98522833	98522833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98522833G>A	ENST00000359863.4	+	22	3131	c.2922G>A	c.(2920-2922)atG>atA	p.M974I	TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I|TRRAP_ENST00000446306.3_Missense_Mutation_p.M973I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	974					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCCATGATGAGCCTGG	0.557																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2920-2922)atG>atA		transformation/transcription domain-associated protein							175.0	139.0	151.0					7																	98522833		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98522833G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2922G>A	7.37:g.98522833G>A	ENSP00000352925:p.Met974Ile					TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I|TRRAP_ENST00000446306.3_Missense_Mutation_p.M973I	p.M974I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3131	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		974					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2922G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807794	0.70797	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02763	4.17;4.17	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.50333	1.59	0.80722	D	1	B;B;B	0.31026	0.304;0.031;0.131	B;B;B	0.26517	0.07;0.026;0.044	T	0.52230	-0.8603	10	0.23891	T	0.37	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	974;688;974	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	974;974;972	ENSP00000352925:M974I;ENSP00000347733:M974I	ENSP00000347733:M974I	M	+	3	0	TRRAP	98360769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.728000	0.98792	2.941000	0.99782	0.655000	0.94253	ATG		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		102	429	0	0	0	1	0	102	429				
DCAF6	55827	broad.mit.edu	37	1	167944232	167944232	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167944232T>C	ENST00000312263.6	+	4	621	c.417T>C	c.(415-417)tgT>tgC	p.C139C	DCAF6_ENST00000432587.2_Silent_p.C108C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367840.3_Silent_p.C139C|DCAF6_ENST00000367843.3_Silent_p.C139C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	139					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATTTACGTGTCATTATGGAA	0.313																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(415-417)tgT>tgC		DDB1 and CUL4 associated factor 6							111.0	105.0	107.0					1																	167944232		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167944232T>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.417T>C	1.37:g.167944232T>C						DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.C139C|DCAF6_ENST00000312263.6_Silent_p.C139C|DCAF6_ENST00000432587.2_Silent_p.C108C	p.C139C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			4	511	+			139					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.417T>C	CCDS30933.1																																																																																				0.313	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		40	406	0	0	0	1	0	40	406				
PACS1	55690	broad.mit.edu	37	11	65988131	65988131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65988131C>T	ENST00000320580.4	+	9	1101	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	356					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ATGTGTCCCGCGAGCAGATCC	0.507																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1066-1068)cgC>cgT		phosphofurin acidic cluster sorting protein 1							94.0	88.0	90.0					11																	65988131		2201	4295	6496	SO:0001819	synonymous_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65988131C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1068C>T	11.37:g.65988131C>T							p.R356R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			9	1101	+			356					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	c.1068C>T	CCDS8129.1																																																																																				0.507	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		44	246	0	0	0	1	0	44	246				
PCDHGA2	56113	broad.mit.edu	37	5	140719048	140719048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719048C>T	ENST00000394576.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAGTACGCACTCAACC	0.537																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(508-510)taC>taT									94.0	91.0	92.0					5																	140719048		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140719048C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.510C>T	5.37:g.140719048C>T						PCDHGA1_ENST00000517417.1_Intron	p.Y170Y	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	510	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.510C>T	CCDS47289.1																																																																																				0.537	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		45	462	0	0	0	1	0	45	462				
LRP1	4035	broad.mit.edu	37	12	57577893	57577893	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577893C>A	ENST00000243077.3	+	37	6421	c.5955C>A	c.(5953-5955)ggC>ggA	p.G1985G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1985					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGACCAGGGCTTTGATGTCA	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5953-5955)ggC>ggA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						86.0	61.0	70.0					12																	57577893		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57577893C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5955C>A	12.37:g.57577893C>A							p.G1985G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	37	6421	+			1985					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5955C>A	CCDS8932.1																																																																																				0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		33	170	1	0	3.33393e-15	1	3.63836e-15	33	170				
BRPF3	27154	broad.mit.edu	37	6	36185729	36185729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185729G>A	ENST00000357641.6	+	9	3278	c.3025G>A	c.(3025-3027)Ggg>Agg	p.G1009R	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R|BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1009					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.G1009W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACCGAAAGCGGGTCTGACTC	0.512																																						ENST00000357641.6																			1	Substitution - Missense(1)	p.G1009W(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(3025-3027)Ggg>Agg		bromodomain and PHD finger containing, 3							180.0	146.0	157.0					6																	36185729		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36185729G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3025G>A	6.37:g.36185729G>A	ENSP00000350267:p.Gly1009Arg					BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R	p.G1009R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			9	3278	+			1009					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.3025G>A	CCDS34437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.660639|2.660639	0.47572|0.47572	.|.	.|.	ENSG00000096070|ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000543502;ENST00000534400|ENST00000394572	T;T;T;T|.	0.17691|.	2.47;2.26;2.26;2.3|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.311404|.	0.35970|.	N|.	0.002867|.	T|T	0.48554|0.48554	0.1506|0.1506	N|N	0.20401|0.20401	0.57|0.57	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.474;0.999|.	B;D|.	0.62955|.	0.124;0.909|.	T|T	0.48222|0.48222	-0.9054|-0.9054	10|6	0.12766|0.42905	T|T	0.61|0.14	.|.	20.1963|20.1963	0.98243|0.98243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	739;1009|.	Q17RB6;Q9ULD4|.	.;BRPF3_HUMAN|.	R|Q	1009;739;739;1009|422	ENSP00000350267:G1009R;ENSP00000345419:G739R;ENSP00000445352:G739R;ENSP00000436504:G1009R|.	ENSP00000345419:G739R|ENSP00000378073:R422Q	G|R	+|+	1|2	0|0	BRPF3|BRPF3	36293707|36293707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.998000|4.998000	0.63927|0.63927	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		59	251	0	0	0	1	0	59	251				
CDK8	1024	broad.mit.edu	37	13	26828901	26828901	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26828901A>C	ENST00000381527.3	+	1	626	c.123A>C	c.(121-123)aaA>aaC	p.K41N	CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAAGAGGAAAGATGGGTGAG	0.667																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(121-123)aaA>aaC		cyclin-dependent kinase 8							148.0	137.0	141.0					13																	26828901		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26828901A>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.123A>C	13.37:g.26828901A>C	ENSP00000370938:p.Lys41Asn					CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	p.K41N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	1	626	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	41			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.123A>C	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125293	0.77436	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66995	-0.24;-0.24	5.25	1.14	0.20703	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050124	0.85682	D	0.000000	T	0.72930	0.3522	L	0.53617	1.68	0.58432	D	0.999999	D;D	0.63046	0.991;0.992	P;D	0.66351	0.905;0.943	T	0.72117	-0.4387	10	0.87932	D	0	-8.8879	9.6921	0.40134	0.6975:0.0:0.3025:0.0	.	41;41	P49336-2;P49336	.;CDK8_HUMAN	N	41	ENSP00000370938:K41N;ENSP00000437696:K41N	ENSP00000370938:K41N	K	+	3	2	CDK8	25726901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	0.245000	0.21373	0.459000	0.35465	AAA		0.667	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			24	140	0	0	0	1	0	24	140				
HERC2P9	440248	broad.mit.edu	37	15	28903890	28903890	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28903890G>A	ENST00000528584.1	+	0	654					NR_036443.1				hect domain and RLD 2 pseudogene 9																		CAGCTGTTCAGGAGACTGGAA	0.453																																						ENST00000528584.1																			0																																																			0							g.chr15:28903890G>A	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28903890G>A								NR_036443.1						0	654	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.453	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		61	553	0	0	0	1	0	61	553				
PTGER4	5734	broad.mit.edu	37	5	40681899	40681899	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40681899C>A	ENST00000302472.3	+	2	1828	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	268					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GCGCCGAGATCCAGATGGTCA	0.687																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(802-804)atC>atA		prostaglandin E receptor 4 (subtype EP4)							26.0	29.0	28.0					5																	40681899		2122	4045	6167	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681899C>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.804C>A	5.37:g.40681899C>A							p.I268I	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1828	+			268					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.804C>A	CCDS3930.1																																																																																				0.687	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		56	239	1	0	4.1673e-28	1	4.84001e-28	56	239				
SOBP	55084	broad.mit.edu	37	6	107956512	107956512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956512C>T	ENST00000317357.5	+	6	3123	c.2464C>T	c.(2464-2466)Ccc>Tcc	p.P822S	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCGGATGCTGCCCAAGACCGG	0.647																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(2464-2466)Ccc>Tcc		sine oculis binding protein homolog (Drosophila)							61.0	75.0	71.0					6																	107956512		2128	4242	6370	SO:0001583	missense	55084						metal ion binding	g.chr6:107956512C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2464C>T	6.37:g.107956512C>T	ENSP00000318900:p.Pro822Ser					SOBP_ENST00000494935.1_3'UTR	p.P822S	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	3123	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	822						Missense_Mutation	SNP	ENST00000317357.5	37	c.2464C>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395447	0.62066	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.47869	0.83	4.54	4.54	0.55810	.	2.024820	0.03193	U	0.173606	T	0.22085	0.0532	N	0.11560	0.145	0.43787	D	0.996326	P	0.47034	0.889	P	0.47402	0.546	T	0.48364	-0.9042	10	0.02654	T	1	-2.1772	17.2698	0.87098	0.0:1.0:0.0:0.0	.	822	A7XYQ1	SOBP_HUMAN	S	822;217	ENSP00000318900:P822S	ENSP00000230065:P217S	P	+	1	0	SOBP	108063205	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.585000	0.53943	2.052000	0.61016	0.462000	0.41574	CCC		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		17	695	0	0	0	1	0	17	695				
KERA	11081	broad.mit.edu	37	12	91450049	91450049	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91450049T>G	ENST00000266719.3	-	2	257	c.10A>C	c.(10-12)Aca>Cca	p.T4P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	4					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAACAGATTGTGCCTGCCATT	0.358																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(10-12)Aca>Cca		keratocan							48.0	41.0	43.0					12																	91450049		2200	4296	6496	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91450049T>G	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.10A>C	12.37:g.91450049T>G	ENSP00000266719:p.Thr4Pro						p.T4P	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	257	-			4						Missense_Mutation	SNP	ENST00000266719.3	37	c.10A>C	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	0.130	-1.114561	0.01799	.	.	ENSG00000139330	ENST00000266719	T	0.55234	0.53	5.96	-0.939	0.10408	.	1.074070	0.06975	N	0.818779	T	0.27313	0.0670	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	10	0.25751	T	0.34	0.0551	7.3371	0.26615	0.0:0.0984:0.3703:0.5313	.	4	O60938	KERA_HUMAN	P	4	ENSP00000266719:T4P	ENSP00000266719:T4P	T	-	1	0	KERA	89974180	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.013000	0.13310	-0.076000	0.12775	0.528000	0.53228	ACA		0.358	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		50	207	0	0	0	1	0	50	207				
WDR43	23160	broad.mit.edu	37	2	29152515	29152515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29152515C>T	ENST00000407426.3	+	11	1432	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA|Y_RNA_ENST00000410292.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	459						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T502M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GACCTCCAGACGAATAGCTTT	0.353																																						ENST00000407426.3																			1	Substitution - Missense(1)	p.T502M(1)	breast(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1375-1377)aCg>aTg		WD repeat domain 43							111.0	109.0	110.0					2																	29152515		1834	4096	5930	SO:0001583	missense	23160					nucleolus		g.chr2:29152515C>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1376C>T	2.37:g.29152515C>T	ENSP00000384302:p.Thr459Met						p.T459M	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN			11	1432	+	Acute lymphoblastic leukemia(172;0.155)		459					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1376C>T	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525409	0.44969	.	.	ENSG00000163811	ENST00000407426	T	0.75704	-0.96	5.81	4.94	0.65067	.	0.146333	0.64402	N	0.000009	T	0.67353	0.2884	M	0.65975	2.015	0.50467	D	0.999879	P	0.37525	0.598	B	0.21917	0.037	T	0.71076	-0.4697	10	0.66056	D	0.02	-8.4749	12.1851	0.54234	0.0:0.8621:0.0:0.1378	.	459	Q15061	WDR43_HUMAN	M	459	ENSP00000384302:T459M	ENSP00000384302:T459M	T	+	2	0	WDR43	29006019	0.992000	0.36948	0.890000	0.34922	0.890000	0.51754	3.080000	0.50112	1.459000	0.47892	0.655000	0.94253	ACG		0.353	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		55	141	0	0	0	1	0	55	141				
G6PC2	57818	broad.mit.edu	37	2	169757900	169757900	+	Missense_Mutation	SNP	G	G	A	rs143670077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169757900G>A	ENST00000375363.3	+	1	151	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q|G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	20					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AAGGACTACCGAGCTTACTAC	0.358																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(58-60)cGa>cAa		glucose-6-phosphatase, catalytic, 2		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	136.0	136.0	136.0		59,59	2.9	0.9	2	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense	G6PC2	NM_001081686.1,NM_021176.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	20/155,20/356	169757900	1,13005	2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169757900G>A	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.59G>A	2.37:g.169757900G>A	ENSP00000364512:p.Arg20Gln					SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q|G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q	p.R20Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			1	151	+			20					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.59G>A	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	G	0.343	-0.949068	0.02304	2.27E-4	0.0	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.82344	-0.88;-0.88;-1.6	5.62	2.87	0.33458	.	.	.	.	.	T	0.64864	0.2637	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.46442	-0.9191	9	0.09338	T	0.73	-6.0633	7.1564	0.25639	0.1678:0.0:0.7092:0.123	.	20;20	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	Q	20	ENSP00000364512:R20Q;ENSP00000396939:R20Q;ENSP00000392183:R20Q	ENSP00000282075:R20Q	R	+	2	0	G6PC2	169466146	0.992000	0.36948	0.861000	0.33841	0.704000	0.40688	1.761000	0.38440	0.323000	0.23307	-0.782000	0.03352	CGA		0.358	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		129	446	0	0	0	1	0	129	446				
NMRK1	54981	broad.mit.edu	37	9	77692434	77692434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77692434C>T	ENST00000361092.4	-	3	328	c.92G>A	c.(91-93)aGt>aAt	p.S31N	NMRK1_ENST00000376811.1_Missense_Mutation_p.S35N|NMRK1_ENST00000376808.4_Missense_Mutation_p.S31N	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	31					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										AGATATGACACTGCAATTTGG	0.318																																						ENST00000376811.1																			0											c.(103-105)aGt>aAt		nicotinamide riboside kinase 1							131.0	121.0	124.0					9																	77692434		2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77692434C>T	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.92G>A	9.37:g.77692434C>T	ENSP00000354387:p.Ser31Asn					NMRK1_ENST00000376808.4_Missense_Mutation_p.S31N|NMRK1_ENST00000361092.4_Missense_Mutation_p.S31N	p.S35N			Q9NWW6	NRK1_HUMAN			4	566	-			31					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.104G>A	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284524	0.40394	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.46063	0.88;0.88;0.92	6.06	4.22	0.49857	.	0.265604	0.43110	D	0.000602	T	0.31949	0.0813	L	0.48642	1.525	0.28755	N	0.901238	P;P;B	0.36282	0.546;0.544;0.149	B;B;B	0.33690	0.168;0.113;0.048	T	0.14615	-1.0466	10	0.18710	T	0.47	-6.1292	10.2096	0.43132	0.0:0.6725:0.2572:0.0702	.	31;35;31	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	N	35;35;31;31	ENSP00000366007:S35N;ENSP00000354387:S31N;ENSP00000366004:S31N	ENSP00000354387:S31N	S	-	2	0	C9orf95	76882254	0.911000	0.30947	0.995000	0.50966	0.859000	0.49053	1.727000	0.38095	0.899000	0.36444	-0.136000	0.14681	AGT		0.318	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		60	268	0	0	0	1	0	60	268				
RFX7	64864	broad.mit.edu	37	15	56388340	56388340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56388340G>A	ENST00000559447.2	-	9	1566	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	RFX7_ENST00000423270.1_Missense_Mutation_p.A529V|RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000422057.1_Missense_Mutation_p.A432V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	432					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGTTCCCCCCGCACTGCTGCT	0.512																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1585-1587)gCg>gTg		regulatory factor X, 7							66.0	66.0	66.0					15																	56388340		2026	4180	6206	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388340G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1295C>T	15.37:g.56388340G>A	ENSP00000453281:p.Ala432Val					RFX7_ENST00000422057.1_Missense_Mutation_p.A432V|RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000559447.2_Missense_Mutation_p.A432V	p.A529V	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1585	-			432					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1586C>T		.	.	.	.	.	.	.	.	.	.	G	0.165	-1.077149	0.01903	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.52526	0.66;0.66;0.66	5.23	4.31	0.51392	.	0.777644	0.11207	N	0.588138	T	0.31040	0.0784	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.25187	-1.0139	10	0.52906	T	0.07	0.0044	13.119	0.59314	0.0782:0.0:0.9218:0.0	.	432;432	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	432;529;529	ENSP00000387504:A432V;ENSP00000313299:A529V;ENSP00000397644:A529V	ENSP00000313299:A529V	A	-	2	0	RFX7	54175632	0.000000	0.05858	0.338000	0.25549	0.666000	0.39218	0.620000	0.24403	1.181000	0.42912	0.655000	0.94253	GCG		0.512	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		30	105	0	0	0	1	0	30	105				
OBSCN	84033	broad.mit.edu	37	1	228456263	228456263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228456263G>T	ENST00000422127.1	+	17	4938	c.4894G>T	c.(4894-4896)Gca>Tca	p.A1632S	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1816S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1632	Ig-like 17.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGCCAGCACACAGGGA	0.627																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5446-5448)Gca>Tca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							38.0	39.0	39.0					1																	228456263		1990	4162	6152	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228456263G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4894G>T	1.37:g.228456263G>T	ENSP00000409493:p.Ala1632Ser					OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1632S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.A1816S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			19	5520	+		Prostate(94;0.0405)	803			Ig-like 18.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5446G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.074	0.381888	0.11524	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.60920	0.56;0.17;0.15	5.51	0.981	0.19756	Immunoglobulin-like (1);	0.182299	0.34156	N	0.004201	T	0.50309	0.1608	L	0.61218	1.895	0.19300	N	0.99998	B;P;B	0.42123	0.392;0.771;0.42	B;P;B	0.44422	0.262;0.449;0.205	T	0.43261	-0.9402	10	0.10636	T	0.68	.	7.8376	0.29378	0.2147:0.0:0.6674:0.118	.	1632;78;1632	Q5VST9;Q24JT4;Q5VST9-3	OBSCN_HUMAN;.;.	S	1632;1632;288	ENSP00000284548:A1632S;ENSP00000409493:A1632S;ENSP00000352613:A288S	ENSP00000284548:A1632S	A	+	1	0	OBSCN	226522886	0.009000	0.17119	0.000000	0.03702	0.043000	0.13939	1.211000	0.32382	0.305000	0.22832	0.491000	0.48974	GCA		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		61	176	1	0	1.11057e-38	1	1.33964e-38	61	176				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			18	89	0	0	0	1	0	18	89				
PTPRJ	5795	broad.mit.edu	37	11	48149438	48149438	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48149438G>A	ENST00000418331.2	+	7	1552	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	PTPRJ_ENST00000440289.2_Silent_p.K400K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	400	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATACCTACAAGATACATGTGG	0.517																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1198-1200)aaG>aaA		protein tyrosine phosphatase, receptor type, J							165.0	138.0	147.0					11																	48149438		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48149438G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1200G>A	11.37:g.48149438G>A						PTPRJ_ENST00000440289.2_Silent_p.K400K	p.K400K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			7	1552	+			400			Fibronectin type-III 4.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.1200G>A	CCDS7945.1																																																																																				0.517	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			23	560	0	0	0	1	0	23	560				
LRRC55	219527	broad.mit.edu	37	11	56950046	56950046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56950046G>A	ENST00000497933.1	+	1	826	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	197	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCTCTTGAGGGCCTACCGGG	0.652																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(679-681)Ggc>Agc		leucine rich repeat containing 55							72.0	72.0	72.0					11																	56950046		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950046G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.679G>A	11.37:g.56950046G>A	ENSP00000419542:p.Gly227Ser						p.G227S	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	826	+			197			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.679G>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998161	0.54147	.	.	ENSG00000183908	ENST00000497933	T	0.02369	4.32	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000009	T	0.03220	0.0094	N	0.10782	0.045	0.32159	N	0.583233	B	0.25441	0.126	B	0.40864	0.342	T	0.47275	-0.9130	10	0.14252	T	0.57	.	14.3899	0.66970	0.0:0.1479:0.8521:0.0	.	197	Q6ZSA7	LRC55_HUMAN	S	227	ENSP00000419542:G227S	ENSP00000419542:G227S	G	+	1	0	LRRC55	56706622	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	3.068000	0.50018	2.724000	0.93272	0.561000	0.74099	GGC		0.652	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		34	567	0	0	0	1	0	34	567				
SNHG14	104472715	broad.mit.edu	37	15	25475840	25475840	+	RNA	SNP	G	G	A	rs527258471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25475840G>A	ENST00000453082.2	+	0	1435				SNORD115-33_ENST00000363723.1_RNA|SNORD115-34_ENST00000362441.1_RNA|SNORD115-32_ENST00000364079.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTCGGCCTCGCTTTTCCTGG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16940	0.001		0.0	False		,,,				2504	0.0					ENST00000453082.2																			0																																																			0							g.chr15:25475840G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25475840G>A								NR_003343.1						0	1435	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.607	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			37	171	0	0	0	1	0	37	171				
HAUS6	54801	broad.mit.edu	37	9	19089409	19089409	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19089409C>A	ENST00000380502.3	-	5	1052		c.e5+1		HAUS6_ENST00000380496.1_Splice_Site|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTACTACTTACTGTGCATTTT	0.348																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e5+1		HAUS augmin-like complex, subunit 6							88.0	87.0	87.0					9																	19089409		2202	4300	6502	SO:0001630	splice_region_variant	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19089409C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.584+1G>T	9.37:g.19089409C>A						HAUS6_ENST00000380496.1_Splice_Site		NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			5	1052	-								B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Splice_Site	SNP	ENST00000380502.3	37		CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813639	0.50527	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1537	0.81640	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HAUS6	19079409	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.783000	0.62403	2.406000	0.81754	0.557000	0.71058	.		0.348	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	Intron	28	170	1	0	4.59853e-10	1	4.86106e-10	28	170				
KCNN4	3783	broad.mit.edu	37	19	44285001	44285001	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44285001G>A	ENST00000262888.3	-	1	408	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	5					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCAAGCACCAGATCCCCGCCC	0.687																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(13-15)Ctg>Ttg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						61.0	61.0	61.0					19																	44285001		2203	4300	6503	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44285001G>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.13C>T	19.37:g.44285001G>A							p.L5L	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			1	408	-		Prostate(69;0.0352)	5					Q53XR4	Silent	SNP	ENST00000262888.3	37	c.13C>T	CCDS12630.1																																																																																				0.687	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		12	523	0	0	0	1	0	12	523				
EPHA2	1969	broad.mit.edu	37	1	16475444	16475444	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16475444G>T	ENST00000358432.5	-	3	406	c.252C>A	c.(250-252)aaC>aaA	p.N84K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	84	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGTACACCCAGTTGGTGCGGA	0.542																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(250-252)aaC>aaA		EPH receptor A2	Dasatinib(DB01254)						114.0	96.0	102.0					1																	16475444		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475444G>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.252C>A	1.37:g.16475444G>T	ENSP00000351209:p.Asn84Lys					EPHA2_ENST00000461614.1_5'UTR	p.N84K	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	406	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	84					B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.252C>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787196	0.70337	.	.	ENSG00000142627	ENST00000358432	T	0.03524	3.9	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000008	T	0.10723	0.0262	L	0.51422	1.61	0.50632	D	0.999885	D;D	0.76494	0.999;0.984	D;P	0.69479	0.964;0.698	T	0.14783	-1.0460	10	0.26408	T	0.33	.	10.0664	0.42306	0.0918:0.0:0.9082:0.0	.	84;84	B5A968;P29317	.;EPHA2_HUMAN	K	84	ENSP00000351209:N84K	ENSP00000351209:N84K	N	-	3	2	EPHA2	16348031	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.382000	0.52463	2.503000	0.84419	0.561000	0.74099	AAC		0.542	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		37	325	1	0	2.09667e-21	1	2.36065e-21	37	325				
FHOD3	80206	broad.mit.edu	37	18	34205676	34205676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34205676G>A	ENST00000359247.4	+	10	1160	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N|FHOD3_ENST00000257209.4_Missense_Mutation_p.S387N|FHOD3_ENST00000590592.1_Missense_Mutation_p.S387N|FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	387	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCAGCTCCCAGCTTCAAGCCC	0.607																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1159-1161)aGc>aAc		formin homology 2 domain containing 3							120.0	123.0	122.0					18																	34205676		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34205676G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1160G>A	18.37:g.34205676G>A	ENSP00000352186:p.Ser387Asn					FHOD3_ENST00000590592.1_Missense_Mutation_p.S387N|FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N|FHOD3_ENST00000359247.4_Missense_Mutation_p.S387N|FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T	p.S387N	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			10	1282	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	387			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.1160G>A		.	.	.	.	.	.	.	.	.	.	G	8.011	0.757616	0.15846	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23754	1.89;1.89;1.89	5.18	1.13	0.20643	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.639052	0.17160	N	0.184714	T	0.07369	0.0186	N	0.01438	-0.865	0.21802	N	0.999535	B;B;B;B	0.14805	0.005;0.0;0.0;0.011	B;B;B;B	0.11329	0.003;0.001;0.001;0.006	T	0.38178	-0.9673	10	0.15066	T	0.55	.	6.0063	0.19549	0.1994:0.3673:0.4333:0.0	.	387;387;387;387	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	N	387	ENSP00000257209:S387N;ENSP00000352186:S387N;ENSP00000411430:S387N	ENSP00000257209:S387N	S	+	2	0	FHOD3	32459674	0.009000	0.17119	0.137000	0.22149	0.985000	0.73830	0.334000	0.19787	0.138000	0.18790	0.655000	0.94253	AGC		0.607	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		76	850	0	0	0	1	0	76	850				
PCDHB10	56126	broad.mit.edu	37	5	140573455	140573455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573455G>A	ENST00000239446.4	+	1	1514	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.587																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1330-1332)Gtc>Atc									70.0	68.0	68.0					5																	140573455		2203	4293	6496	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573455G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1330G>A	5.37:g.140573455G>A	ENSP00000239446:p.Val444Ile						p.V444I	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1514	+			444			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1330G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	5.683	0.310575	0.10733	.	.	ENSG00000120324	ENST00000239446	T	0.01258	5.09	3.22	0.279	0.15677	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00967	0.0032	N	0.20445	0.575	0.23468	N	0.997613	B	0.21905	0.062	B	0.18263	0.021	T	0.46470	-0.9189	9	0.06099	T	0.92	.	8.2294	0.31589	0.3138:0.0:0.6862:0.0	.	444	Q9UN67	PCDBA_HUMAN	I	444	ENSP00000239446:V444I	ENSP00000239446:V444I	V	+	1	0	PCDHB10	140553639	0.090000	0.21635	0.999000	0.59377	0.858000	0.48976	0.358000	0.20216	0.194000	0.20326	-0.274000	0.10170	GTC		0.587	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		140	498	0	0	0	1	0	140	498				
MDP1	145553	broad.mit.edu	37	14	24684946	24684946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24684946C>T	ENST00000288087.7	-	2	206	c.95G>A	c.(94-96)aGc>aAc	p.S32N	CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'UTR|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.S32N|NEDD8-MDP1_ENST00000534348.1_Intron	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	32						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						ACCTCACCTGCTCTTATGGAA	0.597											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288087.7																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(94-96)aGc>aAc		magnesium-dependent phosphatase 1							172.0	166.0	168.0					14																	24684946		2203	4300	6503	SO:0001583	missense	145553							g.chr14:24684946C>T	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.95G>A	14.37:g.24684946C>T	ENSP00000288087:p.Ser32Asn		OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	NEDD8-MDP1_ENST00000534348.1_Intron|MDP1_ENST00000396833.2_Missense_Mutation_p.S32N|NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR	p.S32N	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					2	206	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.95G>A	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364688	0.61513	.	.	ENSG00000213920	ENST00000288087;ENST00000396833	D;D	0.97303	-4.33;-4.33	4.92	4.03	0.46877	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.92021	0.7472	N	0.17872	0.535	0.22601	N	0.998946	B;B;B	0.14012	0.009;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.001	T	0.82544	-0.0404	9	0.17832	T	0.49	.	9.3942	0.38392	0.0:0.9028:0.0:0.0972	.	32;32;32	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	N	32	ENSP00000288087:S32N;ENSP00000380045:S32N	ENSP00000288087:S32N	S	-	2	0	MDP1	23754786	0.577000	0.26708	0.994000	0.49952	0.992000	0.81027	0.390000	0.20768	1.432000	0.47375	0.655000	0.94253	AGC		0.597	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		152	841	0	0	0	1	0	152	841				
CCL27	10850	broad.mit.edu	37	9	34662348	34662348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34662348G>T	ENST00000259631.4	-	2	194	c.136C>A	c.(136-138)Cta>Ata	p.L46I	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	46					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCCTCAGTAGCTTGTCTGAG	0.582																																						ENST00000259631.4																			0				kidney(1)|large_intestine(3)|ovary(1)	5						c.(136-138)Cta>Ata		chemokine (C-C motif) ligand 27							79.0	67.0	71.0					9																	34662348		2203	4300	6503	SO:0001583	missense	10850				cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity	g.chr9:34662348G>T	AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"""Chemokine ligands"", ""Endogenous ligands"""	10626	protein-coding gene	gene with protein product	"""CC chemokine ILC"", ""IL-11 Ralpha-locus chemokine"", ""cutaneous T-cell attracting chemokine"""	604833	"""small inducible cytokine subfamily A (Cys-Cys), member 27"""	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.136C>A	9.37:g.34662348G>T	ENSP00000259631:p.Leu46Ile					RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	p.L46I	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	2	194	-	all_epithelial(49;0.102)		46						Missense_Mutation	SNP	ENST00000259631.4	37	c.136C>A	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786428	0.70337	.	.	ENSG00000213927	ENST00000259631	T	0.05139	3.49	5.37	3.46	0.39613	Chemokine interleukin-8-like domain (2);	0.000000	0.43579	D	0.000546	T	0.08044	0.0201	L	0.57536	1.79	0.28183	N	0.928067	B	0.31769	0.339	B	0.33690	0.168	T	0.10941	-1.0608	10	0.66056	D	0.02	-4.2276	7.1555	0.25635	0.0913:0.0:0.7357:0.173	.	46	Q9Y4X3	CCL27_HUMAN	I	46	ENSP00000259631:L46I	ENSP00000259631:L46I	L	-	1	2	CCL27	34652348	0.997000	0.39634	0.989000	0.46669	0.914000	0.54420	1.300000	0.33436	1.355000	0.45865	0.557000	0.71058	CTA		0.582	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664		38	183	1	0	1.03484e-13	1	1.11885e-13	38	183				
OR1L6	392390	broad.mit.edu	37	9	125513037	125513037	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125513037A>G	ENST00000373684.1	+	1	1019	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	OR1L6_ENST00000304720.2_Missense_Mutation_p.K304R			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	340						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGTTTGAAGAAATTACAGGAC	0.403																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(1018-1020)aAa>aGa		olfactory receptor, family 1, subfamily L, member 6							58.0	56.0	57.0					9																	125513037		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125513037A>G		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.1019A>G	9.37:g.125513037A>G	ENSP00000362788:p.Lys340Arg					OR1L6_ENST00000304720.2_Missense_Mutation_p.K304R	p.K340R			Q8NGR2	OR1L6_HUMAN			1	1019	+			340					Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.1019A>G		.	.	.	.	.	.	.	.	.	.	A	6.901	0.535842	0.13188	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.37915	1.17;1.17	4.11	2.99	0.34606	.	0.102660	0.42964	D	0.000632	T	0.12603	0.0306	N	0.04669	-0.19	0.30572	N	0.763362	B	0.17465	0.022	B	0.14578	0.011	T	0.28138	-1.0053	10	0.02654	T	1	-6.8199	7.3695	0.26794	0.8911:0.0:0.1089:0.0	.	340	Q8NGR2	OR1L6_HUMAN	R	340;304	ENSP00000362788:K340R;ENSP00000304235:K304R	ENSP00000304235:K304R	K	+	2	0	OR1L6	124552858	0.010000	0.17322	0.712000	0.30502	0.330000	0.28571	0.694000	0.25512	1.848000	0.53677	0.533000	0.62120	AAA		0.403	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				7	249	0	0	0	1	0	7	249				
COL4A4	1286	broad.mit.edu	37	2	227966227	227966227	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227966227C>A	ENST00000396625.3	-	17	1229	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	341	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACCTTTGGGCCAATTAATCC	0.328																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1021-1023)gGc>gTc		collagen, type IV, alpha 4							47.0	41.0	43.0					2																	227966227		1790	4068	5858	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227966227C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1022G>T	2.37:g.227966227C>A	ENSP00000379866:p.Gly341Val					COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	p.G341V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	17	1229	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	341			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1022G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016752	0.54468	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.54	5.54	0.83059	.	.	.	.	.	D	0.99606	0.9857	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97902	1.0303	9	0.87932	D	0	.	15.3403	0.74290	0.0:1.0:0.0:0.0	.	341	P53420	CO4A4_HUMAN	V	341	ENSP00000379866:G341V;ENSP00000328553:G341V	ENSP00000328553:G341V	G	-	2	0	COL4A4	227674471	0.995000	0.38212	0.988000	0.46212	0.423000	0.31445	3.739000	0.55075	2.779000	0.95612	0.591000	0.81541	GGC		0.328	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		17	107	1	0	3.41278e-10	1	3.61262e-10	17	107				
PFAS	5198	broad.mit.edu	37	17	8169597	8169597	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8169597T>C	ENST00000314666.6	+	22	2880	c.2747T>C	c.(2746-2748)gTc>gCc	p.V916A	PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	916					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGAGGCCTCGTCACATGCCTG	0.592																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2746-2748)gTc>gCc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						111.0	91.0	98.0					17																	8169597		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8169597T>C	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2747T>C	17.37:g.8169597T>C	ENSP00000313490:p.Val916Ala					PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	p.V916A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			22	2880	+			916					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2747T>C	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420625	0.42918	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.14766	2.48;2.48	5.92	5.92	0.95590	AIR synthase-related protein, C-terminal (2);	0.358875	0.30820	N	0.008814	T	0.13500	0.0327	L	0.32530	0.975	0.46149	D	0.998891	B	0.18461	0.028	B	0.20577	0.03	T	0.02758	-1.1114	10	0.72032	D	0.01	-7.6971	14.3183	0.66468	0.0:0.0:0.0:1.0	.	916	O15067	PUR4_HUMAN	A	492;916;325	ENSP00000441706:V492A;ENSP00000313490:V916A	ENSP00000313490:V916A	V	+	2	0	PFAS	8110322	1.000000	0.71417	0.956000	0.39512	0.512000	0.34134	7.475000	0.81041	2.274000	0.75844	0.533000	0.62120	GTC		0.592	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			50	253	0	0	0	1	0	50	253				
INHBC	3626	broad.mit.edu	37	12	57843728	57843728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57843728C>T	ENST00000309668.2	+	2	1109	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	328					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTGTCTCTGCTCTATTATGA	0.562																																						ENST00000309668.2																			0				breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(982-984)Ctc>Ttc		inhibin, beta C							62.0	66.0	65.0					12																	57843728		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843728C>T		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.982C>T	12.37:g.57843728C>T	ENSP00000308716:p.Leu328Phe					INHBC_ENST00000550133.1_Intron	p.L328F	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN			2	1109	+			328					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.982C>T	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736685	0.69304	.	.	ENSG00000175189	ENST00000309668	D	0.87029	-2.2	4.27	4.27	0.50696	Transforming growth factor-beta, C-terminal (3);	0.066311	0.64402	D	0.000011	D	0.94663	0.8279	M	0.91920	3.255	0.50632	D	0.999884	D	0.89917	1.0	D	0.87578	0.998	D	0.95477	0.8557	9	.	.	.	-14.9598	16.6692	0.85261	0.0:1.0:0.0:0.0	.	328	P55103	INHBC_HUMAN	F	328	ENSP00000308716:L328F	.	L	+	1	0	INHBC	56129995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.082000	0.50128	2.678000	0.91216	0.655000	0.94253	CTC		0.562	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		80	359	0	0	0	1	0	80	359				
MCOLN1	57192	broad.mit.edu	37	19	7595344	7595344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595344G>A	ENST00000264079.6	+	12	1657	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	511					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGTGCTCAGCCTCTTCATC	0.627																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1531-1533)aGc>aAc		mucolipin 1							239.0	224.0	229.0					19																	7595344		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595344G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1532G>A	19.37:g.7595344G>A	ENSP00000264079:p.Ser511Asn						p.S511N	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1657	+			511					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1532G>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497304	0.85069	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.64260	-0.09	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.092272	0.85682	D	0.000000	T	0.71651	0.3365	L	0.58583	1.82	0.58432	D	0.999999	P;P	0.50710	0.711;0.938	P;D	0.65233	0.747;0.933	T	0.65772	-0.6087	10	0.07325	T	0.83	.	16.4162	0.83743	0.0:0.0:1.0:0.0	.	476;511	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	N	511;476	ENSP00000264079:S511N	ENSP00000264079:S511N	S	+	2	0	MCOLN1	7501344	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	5.746000	0.68681	2.478000	0.83669	0.563000	0.77884	AGC		0.627	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		287	1318	0	0	0	1	0	287	1318				
FAM228A	653140	broad.mit.edu	37	2	24413339	24413339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24413339G>A	ENST00000295150.3	+	6	546	c.460G>A	c.(460-462)Gac>Aac	p.D154N		NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	154								p.D154N(1)									AAAGACGGCCGACCTAAGTCA	0.458																																						ENST00000295150.3																			1	Substitution - Missense(1)	p.D154N(1)	large_intestine(1)								c.(460-462)Gac>Aac		family with sequence similarity 228, member A							49.0	50.0	50.0					2																	24413339		1880	4100	5980	SO:0001583	missense	653140							g.chr2:24413339G>A		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.460G>A	2.37:g.24413339G>A	ENSP00000295150:p.Asp154Asn						p.D154N	NM_001040710.1	NP_001035800.1					6	546	+									Missense_Mutation	SNP	ENST00000295150.3	37	c.460G>A	CCDS42659.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362046	0.41902	.	.	ENSG00000186453	ENST00000295150;ENST00000415196	T;T	0.47528	0.86;0.84	3.64	0.854	0.19007	.	0.356629	0.20561	N	0.089907	T	0.18759	0.0450	N	0.04959	-0.14	0.09310	N	1	B	0.27791	0.189	B	0.20184	0.028	T	0.17715	-1.0360	10	0.15952	T	0.53	3.0656	5.4725	0.16678	0.3768:0.0:0.6232:0.0	.	154	Q86W67	CB084_HUMAN	N	154;55	ENSP00000295150:D154N;ENSP00000416595:D55N	ENSP00000295150:D154N	D	+	1	0	C2orf84	24266843	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.410000	0.21098	0.166000	0.19597	-0.143000	0.13931	GAC		0.458	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		61	242	0	0	0	1	0	61	242				
SLIT2	9353	broad.mit.edu	37	4	20568888	20568888	+	Missense_Mutation	SNP	C	C	A	rs368566618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20568888C>A	ENST00000504154.1	+	27	2981	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	910					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTTCAGGTCCTGTGGATGTC	0.333																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2728-2730)cCt>cAt		slit homolog 2 (Drosophila)							181.0	183.0	182.0					4																	20568888		2203	4299	6502	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20568888C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2729C>A	4.37:g.20568888C>A	ENSP00000422591:p.Pro910His					SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H	p.P910H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			27	2981	+			910					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2729C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418949	0.83559	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	D;D;T;D;D	0.88975	-1.54;-1.56;-1.47;-1.53;-2.45	5.67	5.67	0.87782	.	0.101407	0.64402	D	0.000002	D	0.93562	0.7945	M	0.78637	2.42	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.63381	0.914;0.823	D	0.90823	0.4710	10	0.17369	T	0.5	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	902;910	O94813-3;O94813	.;SLIT2_HUMAN	H	902;910;914;906;906;122	ENSP00000427548:P902H;ENSP00000422591:P910H;ENSP00000273739:P914H;ENSP00000422261:P906H;ENSP00000421975:P122H	ENSP00000273739:P914H	P	+	2	0	SLIT2	20177986	1.000000	0.71417	0.985000	0.45067	0.745000	0.42441	6.071000	0.71229	2.659000	0.90383	0.655000	0.94253	CCT		0.333	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			151	659	1	0	1.87815e-66	1	2.37702e-66	151	659				
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(511-513)cGc>cAc		stomatin (EPB72)-like 2							141.0	142.0	141.0					9																	35101490		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35101490C>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.512G>A	9.37:g.35101490C>T	ENSP00000348886:p.Arg171His					STOML2_ENST00000452248.2_Intron	p.R171H	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	574	-			171					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.512G>A	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211436	0.79240	.	.	ENSG00000165283	ENST00000356493	D	0.94723	-3.5	5.26	4.34	0.51931	.	0.176889	0.46145	D	0.000309	D	0.94066	0.8098	L	0.47016	1.485	0.80722	D	1	D	0.58970	0.984	P	0.56788	0.806	D	0.93413	0.6770	10	0.62326	D	0.03	-0.8274	8.4582	0.32912	0.1551:0.7677:0.0:0.0772	.	171	Q9UJZ1	STML2_HUMAN	H	171	ENSP00000348886:R171H	ENSP00000348886:R171H	R	-	2	0	STOML2	35091490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.740000	0.55082	1.411000	0.46957	0.563000	0.77884	CGC		0.567	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		70	784	0	0	0	1	0	70	784				
PAPOLA	10914	broad.mit.edu	37	14	97029194	97029194	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97029194A>C	ENST00000216277.8	+	21	2326	c.2106A>C	c.(2104-2106)gaA>gaC	p.E702D	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E681D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	702	Required for interaction with NUDT21.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CTCAATCAGAAACTATTCAGA	0.378																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(2104-2106)gaA>gaC		poly(A) polymerase alpha							129.0	132.0	131.0					14																	97029194		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97029194A>C	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.2106A>C	14.37:g.97029194A>C	ENSP00000216277:p.Glu702Asp					PAPOLA_ENST00000392990.2_Missense_Mutation_p.E681D	p.E702D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	21	2326	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	702			Required for interaction with NUDT21.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.2106A>C	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279488	0.40294	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.93	2.27	0.28462	.	0.324591	0.29410	N	0.012234	T	0.23846	0.0577	N	0.14661	0.345	0.34784	D	0.73503	B;B;B	0.23316	0.004;0.002;0.083	B;B;B	0.17098	0.004;0.002;0.017	T	0.15752	-1.0426	9	0.18710	T	0.47	.	5.4407	0.16507	0.6994:0.1476:0.153:0.0	.	697;718;702	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	D	702;697;681;452	.	ENSP00000216277:E702D	E	+	3	2	PAPOLA	96098947	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.002000	0.29796	0.145000	0.18977	0.482000	0.46254	GAA		0.378	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			149	553	0	0	0	1	0	149	553				
DPEP1	1800	broad.mit.edu	37	16	89703612	89703612	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89703612C>T	ENST00000393092.3	+	7	883	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	DPEP1_ENST00000421184.1_Splice_Site_p.R198C|DPEP1_ENST00000261615.4_Splice_Site_p.R198C	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	198					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTCTTCCCAGCGTGTGGTGAA	0.652																																						ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.e7-1		dipeptidase 1 (renal)	Cilastatin(DB01597)						60.0	64.0	63.0					16																	89703612		2194	4292	6486	SO:0001630	splice_region_variant	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703612C>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.592-1C>T	16.37:g.89703612C>T						DPEP1_ENST00000421184.1_Splice_Site_p.R198_splice|DPEP1_ENST00000261615.4_Splice_Site_p.R198_splice	p.R198_splice	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	7	883	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	198					D3DX80|Q96AK2	Splice_Site	SNP	ENST00000393092.3	37	c.591_splice	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447057	0.84101	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24723	1.84;1.84;1.84	5.14	-4.67	0.03319	.	0.985709	0.08297	N	0.967567	T	0.40398	0.1115	M	0.74881	2.28	0.32834	D	0.504453	D	0.89917	1.0	D	0.68039	0.955	T	0.56884	-0.7905	9	.	.	.	-5.7528	4.4237	0.11493	0.3622:0.413:0.1444:0.0804	.	198	P16444	DPEP1_HUMAN	C	198	ENSP00000397313:R198C;ENSP00000376807:R198C;ENSP00000261615:R198C	.	R	+	1	0	DPEP1	88231113	0.000000	0.05858	0.002000	0.10522	0.894000	0.52154	-1.050000	0.03510	-0.492000	0.06687	0.436000	0.28706	CGT		0.652	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141	Missense_Mutation	15	411	0	0	0	1	0	15	411				
GAS8	2622	broad.mit.edu	37	16	90109727	90109727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90109727G>A	ENST00000268699.4	+	11	1533	c.1411G>A	c.(1411-1413)Gcg>Acg	p.A471T	GAS8_ENST00000536122.1_Missense_Mutation_p.A446T|URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	471					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCAGGGCCCCGCGGGACTGGT	0.637																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1411-1413)Gcg>Acg		growth arrest-specific 8							42.0	43.0	43.0					16																	90109727		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90109727G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1411G>A	16.37:g.90109727G>A	ENSP00000268699:p.Ala471Thr					GAS8_ENST00000536122.1_Missense_Mutation_p.A446T|URAHP_ENST00000517889.1_3'UTR|URAHP_ENST00000409873.1_Intron	p.A471T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	11	1533	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	471					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.1411G>A	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169634	0.57584	.	.	ENSG00000141013	ENST00000536122;ENST00000268699	T;T	0.51071	0.83;0.72	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.71296	2.17	0.80722	D	1	D	0.63880	0.993	P	0.45377	0.478	T	0.57923	-0.7727	9	.	.	.	-31.3668	18.2512	0.90004	0.0:0.0:1.0:0.0	.	471	O95995	GAS8_HUMAN	T	446;471	ENSP00000440977:A446T;ENSP00000268699:A471T	.	A	+	1	0	GAS8	88637228	1.000000	0.71417	0.815000	0.32552	0.046000	0.14306	8.551000	0.90678	2.688000	0.91661	0.557000	0.71058	GCG		0.637	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			101	268	0	0	0	1	0	101	268				
API5	8539	broad.mit.edu	37	11	43342961	43342961	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43342961A>C	ENST00000531273.1	+	4	465	c.326A>C	c.(325-327)gAt>gCt	p.D109A	API5_ENST00000455725.2_Splice_Site_p.D98A|API5_ENST00000420461.2_Splice_Site_p.D55A|API5_ENST00000378852.3_Splice_Site_p.D109A|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Splice_Site_p.D109A			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	109	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTTTATCCAGATGACTCTGCA	0.303																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.e4-1		apoptosis inhibitor 5							58.0	60.0	59.0					11																	43342961		2203	4295	6498	SO:0001630	splice_region_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43342961A>C	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.326-1A>C	11.37:g.43342961A>C						API5_ENST00000534600.1_Splice_Site_p.D109_splice|API5_ENST00000455725.2_Splice_Site_p.D98_splice|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Splice_Site_p.D109_splice|API5_ENST00000420461.2_Splice_Site_p.D55_splice	p.D109_splice	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			4	451	+			109					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Splice_Site	SNP	ENST00000531273.1	37	c.325_splice	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779208	0.90195	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.65975	2.015	0.80722	D	1	B;P;D;P	0.58620	0.117;0.896;0.983;0.873	B;P;P;B	0.60415	0.112;0.519;0.874;0.298	T	0.14699	-1.0463	9	.	.	.	.	15.989	0.80188	1.0:0.0:0.0:0.0	.	55;109;98;109	B4DGR0;Q9BZZ5;B4E283;Q9BZZ5-2	.;API5_HUMAN;.;.	A	98;109;55;109;109	ENSP00000399341:D98A;ENSP00000431391:D109A;ENSP00000402540:D55A;ENSP00000368129:D109A;ENSP00000434462:D109A	.	D	+	2	0	API5	43299537	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.489000	0.81451	2.261000	0.74972	0.529000	0.55759	GAT		0.303	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595	Missense_Mutation	42	206	0	0	0	1	0	42	206				
GABRQ	55879	broad.mit.edu	37	X	151818234	151818234	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151818234T>G	ENST00000370306.2	+	6	660	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	214					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCATATTATTCTGGGATGA	0.433																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(640-642)Ttc>Gtc		gamma-aminobutyric acid (GABA) A receptor, theta							158.0	129.0	139.0					X																	151818234		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151818234T>G	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.640T>G	X.37:g.151818234T>G	ENSP00000359329:p.Phe214Val						p.F214V	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			6	660	+	Acute lymphoblastic leukemia(192;6.56e-05)		214					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.640T>G	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096594	0.36952	.	.	ENSG00000147402	ENST00000370306	T	0.78246	-1.16	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.280140	0.25786	N	0.028304	T	0.56187	0.1968	N	0.03917	-0.325	0.30477	N	0.77273	P	0.43231	0.801	B	0.37780	0.258	T	0.62718	-0.6795	10	0.42905	T	0.14	.	12.9114	0.58182	0.0:0.0:0.0:1.0	.	214	Q9UN88	GBRT_HUMAN	V	214	ENSP00000359329:F214V	ENSP00000359329:F214V	F	+	1	0	GABRQ	151568890	1.000000	0.71417	0.861000	0.33841	0.128000	0.20619	4.927000	0.63440	1.957000	0.56846	0.486000	0.48141	TTC		0.433	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		93	376	0	0	0	1	0	93	376				
PDZRN3	23024	broad.mit.edu	37	3	73433199	73433199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433199G>A	ENST00000263666.4	-	10	2632	c.2518C>T	c.(2518-2520)Cgg>Tgg	p.R840W	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R557W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	840					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCTCTCCGCTCTTTGCTT	0.637																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2518-2520)Cgg>Tgg		PDZ domain containing ring finger 3							39.0	45.0	43.0					3																	73433199		2201	4300	6501	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433199G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2518C>T	3.37:g.73433199G>A	ENSP00000263666:p.Arg840Trp					PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R557W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W	p.R840W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2632	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	840					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2518C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	7.632	0.679032	0.14841	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.11495	2.77;3.48;3.38;3.38;3.49	5.16	-1.19	0.09585	.	3.246850	0.00914	N	0.002509	T	0.31857	0.0810	M	0.70595	2.14	0.20074	N	0.999931	D;D;D;D	0.89917	0.993;0.999;0.995;1.0	P;P;P;D	0.66084	0.84;0.708;0.462;0.941	T	0.38001	-0.9681	10	0.87932	D	0	.	10.5668	0.45177	0.0:0.0834:0.333:0.5836	.	562;557;557;840	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	W	840;562;497;497;557	ENSP00000263666:R840W;ENSP00000442026:R562W;ENSP00000418168:R497W;ENSP00000418484:R497W;ENSP00000418624:R557W	ENSP00000263666:R840W	R	-	1	2	PDZRN3	73515889	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.037000	0.13840	-0.126000	0.11682	-0.175000	0.13238	CGG		0.637	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		100	386	0	0	0	1	0	100	386				
CHD8	57680	broad.mit.edu	37	14	21868399	21868399	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21868399G>A	ENST00000557364.1	-	24	4901	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.I1267I|CHD8_ENST00000399982.2_Silent_p.I1546I			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1546					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGCCTTATGGATATCAAAAG	0.403																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4636-4638)atC>atT		chromodomain helicase DNA binding protein 8							136.0	125.0	128.0					14																	21868399		1847	4096	5943	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21868399G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4638C>T	14.37:g.21868399G>A						CHD8_ENST00000557364.1_Silent_p.I1546I|CHD8_ENST00000430710.3_Silent_p.I1267I|CHD8_ENST00000555962.1_5'UTR	p.I1546I	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	23	4702	-	all_cancers(95;0.00121)		1546					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.4638C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063266	0.08388	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.21	2.41	0.29592	.	.	.	.	.	T	0.51736	0.1692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	-9.7636	4.8474	0.13521	0.1622:0.0:0.5391:0.2987	.	.	.	.	S	780	.	.	P	-	1	0	CHD8	20938239	0.028000	0.19301	1.000000	0.80357	0.921000	0.55340	-0.831000	0.04405	0.353000	0.24079	-0.745000	0.03516	CCA		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		67	250	0	0	0	1	0	67	250				
TRPM2	7226	broad.mit.edu	37	21	45837893	45837893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45837893G>A	ENST00000397928.1	+	21	3675	c.3230G>A	c.(3229-3231)cGc>cAc	p.R1077H	TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1077					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCAcggccgccccgccgcg	0.617																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3229-3231)cGc>cAc		transient receptor potential cation channel, subfamily M, member 2							54.0	53.0	53.0					21																	45837893		2203	4299	6502	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837893G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3230G>A	21.37:g.45837893G>A	ENSP00000381023:p.Arg1077His					TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H	p.R1077H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			21	3675	+			1077					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3230G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595539	0.66219	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.54	4.54	0.55810	.	0.140827	0.48286	D	0.000181	T	0.62270	0.2414	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71547	-0.4560	10	0.87932	D	0	-34.5594	17.6937	0.88276	0.0:0.0:1.0:0.0	.	1077;863;1077	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	1077;1077;1057;1077	ENSP00000300482:R1077H;ENSP00000381023:R1077H;ENSP00000300481:R1057H;ENSP00000381026:R1077H	ENSP00000300481:R1057H	R	+	2	0	TRPM2	44662321	1.000000	0.71417	0.315000	0.25238	0.048000	0.14542	7.492000	0.81482	2.253000	0.74438	0.455000	0.32223	CGC		0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		96	362	0	0	0	1	0	96	362				
CHCHD4	131474	broad.mit.edu	37	3	14154654	14154654	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14154654T>C	ENST00000396914.3	-	3	343	c.162A>G	c.(160-162)ccA>ccG	p.P54P	CHCHD4_ENST00000295767.5_Silent_p.P67P	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	54					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCCAAGGCATGGGCAGTTCC	0.463																																						ENST00000295767.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(199-201)ccA>ccG		coiled-coil-helix-coiled-coil-helix domain containing 4							74.0	75.0	75.0					3																	14154654		2203	4300	6503	SO:0001819	synonymous_variant	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14154654T>C	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.162A>G	3.37:g.14154654T>C						CHCHD4_ENST00000396914.3_Silent_p.P54P	p.P67P	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN			4	525	-			54			CHCH.		A8K3Z9|Q96AI2|Q96MY6	Silent	SNP	ENST00000396914.3	37	c.201A>G	CCDS43054.1																																																																																				0.463	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		64	292	0	0	0	1	0	64	292				
CRB1	23418	broad.mit.edu	37	1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197390735G>A	ENST00000367400.3	+	6	1912	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	593	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A593T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAAATGCATCGCGAAAGCTCC	0.468																																						ENST00000367400.3																			1	Substitution - Missense(1)	p.A593T(1)	kidney(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1777-1779)Gcg>Acg		crumbs homolog 1 (Drosophila)							117.0	111.0	113.0					1																	197390735		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390735G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1777G>A	1.37:g.197390735G>A	ENSP00000356370:p.Ala593Thr					CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T|CRB1_ENST00000543483.1_Intron	p.A593T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1912	+			593			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1777G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650083	0.00785	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.84	-11.7	0.00046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.33000	0.0848	N	0.00419	-1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.0;0.002	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002	T	0.31420	-0.9944	9	0.08381	T	0.77	.	7.7285	0.28773	0.5034:0.0715:0.3537:0.0714	.	593;524;481;242;593	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	524;593;593;481;74;242	ENSP00000438786:A524T;ENSP00000438091:A593T;ENSP00000356370:A593T;ENSP00000356369:A481T;ENSP00000444556:A74T	ENSP00000356369:A481T	A	+	1	0	CRB1	195657358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-2.928000	0.00302	-2.912000	0.00091	GCG		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		60	682	0	0	0	1	0	60	682				
USH2A	7399	broad.mit.edu	37	1	216424250	216424250	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216424250A>C	ENST00000307340.3	-	12	2548	c.2162T>G	c.(2161-2163)gTt>gGt	p.V721G	USH2A_ENST00000366943.2_Missense_Mutation_p.V721G|USH2A_ENST00000366942.3_Missense_Mutation_p.V721G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	721	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTACCAATAACGTTTGCTTT	0.403										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2161-2163)gTt>gGt		Usher syndrome 2A (autosomal recessive, mild)							139.0	128.0	132.0					1																	216424250		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216424250A>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2162T>G	1.37:g.216424250A>C	ENSP00000305941:p.Val721Gly	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V721G|USH2A_ENST00000366942.3_Missense_Mutation_p.V721G	p.V721G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	12	2548	-			721			Laminin EGF-like 4.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2162T>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108035	0.56291	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.66815	-0.23;-0.23;-0.23	5.26	4.13	0.48395	EGF-like, laminin (4);	0.000000	0.39544	N	0.001331	D	0.87521	0.6198	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	D	0.89397	0.3693	10	0.72032	D	0.01	.	10.6956	0.45896	0.9247:0.0:0.0753:0.0	.	721;721	O75445-2;O75445	.;USH2A_HUMAN	G	721	ENSP00000305941:V721G;ENSP00000355910:V721G;ENSP00000355909:V721G	ENSP00000305941:V721G	V	-	2	0	USH2A	214490873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	0.850000	0.35239	0.533000	0.62120	GTT		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		35	160	0	0	0	1	0	35	160				
SPHKAP	80309	broad.mit.edu	37	2	228881731	228881731	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881731G>A	ENST00000392056.3	-	7	3885	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1280						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGATGAGGACGCGCTACTGAC	0.512																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3838-3840)gCg>gTg		SPHK1 interactor, AKAP domain containing							84.0	82.0	82.0					2																	228881731		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881731G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3839C>T	2.37:g.228881731G>A	ENSP00000375909:p.Ala1280Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	p.A1280V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3885	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1280					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3839C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.597112	0.00857	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42900	0.96;0.96	6.08	3.98	0.46160	.	0.362355	0.31381	N	0.007752	T	0.25232	0.0613	L	0.33137	0.985	0.09310	N	0.999992	B;B;B	0.17465	0.007;0.014;0.022	B;B;B	0.11329	0.002;0.001;0.006	T	0.12319	-1.0552	10	0.15499	T	0.54	.	4.4234	0.11492	0.4415:0.0:0.5585:0.0	.	311;1280;1280	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1280	ENSP00000375909:A1280V;ENSP00000339886:A1280V	ENSP00000339886:A1280V	A	-	2	0	SPHKAP	228589975	0.002000	0.14202	0.045000	0.18777	0.002000	0.02628	1.742000	0.38248	1.503000	0.48686	0.655000	0.94253	GCG		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		36	382	0	0	0	1	0	36	382				
VWA3A	146177	broad.mit.edu	37	16	22142594	22142594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22142594C>T	ENST00000389398.5	+	18	1817	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	574	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTACAAAGTGCCTGGCGGTAG	0.498																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1720-1722)gCc>gTc		von Willebrand factor A domain containing 3A							72.0	72.0	72.0					16																	22142594		1956	4143	6099	SO:0001583	missense	146177					extracellular region		g.chr16:22142594C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1721C>T	16.37:g.22142594C>T	ENSP00000374049:p.Ala574Val					VWA3A_ENST00000389397.4_5'UTR	p.A574V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	18	1817	+			574			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1721C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323604	0.81580	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.09073	3.02	5.17	5.17	0.71159	.	0.068546	0.64402	D	0.000017	T	0.28234	0.0697	M	0.73319	2.225	0.80722	D	1	D;D	0.60575	0.988;0.984	D;P	0.66084	0.941;0.785	T	0.01121	-1.1445	10	0.87932	D	0	.	17.295	0.87168	0.0:1.0:0.0:0.0	.	574;198	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	V	574;197	ENSP00000374049:A574V	ENSP00000299840:A197V	A	+	2	0	VWA3A	22050095	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.885000	0.63142	2.415000	0.81967	0.558000	0.71614	GCC		0.498	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			33	123	0	0	0	1	0	33	123				
KCNK4	50801	broad.mit.edu	37	11	64064699	64064699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64064699G>A	ENST00000539216.1	+	3	782	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	141					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GTCGGGGACCGGCTGGGCTCC	0.632																																						ENST00000539216.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(421-423)cGg>cAg		potassium channel, subfamily K, member 4							46.0	48.0	47.0					11																	64064699		2201	4297	6498	SO:0001583	missense	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64064699G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.422G>A	11.37:g.64064699G>A	ENSP00000444948:p.Arg141Gln					KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539651.1_3'UTR	p.R141Q			Q9NYG8	KCNK4_HUMAN			3	782	+			141					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.422G>A	CCDS8067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.770476|2.770476	0.49680|0.49680	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000538767|ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.36|5.36	4.25|4.25	0.50352|0.50352	.|Ion transport 2 (1);	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.13500|0.13500	0.0327|0.0327	N|N	0.05012|0.05012	-0.13|-0.13	0.38410|0.38410	D|D	0.945908|0.945908	B;B|B	0.14438|0.21905	0.01;0.01|0.062	B;B|B	0.10450|0.28784	0.005;0.005|0.094	T|T	0.16188|0.16188	-1.0411|-1.0411	8|10	0.87932|0.10111	D|T	0|0.7	.|.	8.2058|8.2058	0.31454|0.31454	0.1877:0.0:0.8123:0.0|0.1877:0.0:0.8123:0.0	.|.	114;75|141	B4DJC9;F5GYE0|Q9NYG8	.;.|KCNK4_HUMAN	S|Q	75|141;166;141;203;141	.|ENSP00000402797:R141Q;ENSP00000378033:R141Q;ENSP00000444948:R141Q	ENSP00000446454:G75S|ENSP00000378033:R141Q	G|R	+|+	1|2	0|0	KCNK4|KCNK4	63821275|63821275	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.977000|0.977000	0.68977|0.68977	5.891000|5.891000	0.69782|0.69782	2.521000|2.521000	0.84997|0.84997	0.555000|0.555000	0.69702|0.69702	GGC|CGG		0.632	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		18	348	0	0	0	1	0	18	348				
CWF19L2	143884	broad.mit.edu	37	11	107309826	107309826	+	Silent	SNP	C	C	T	rs201136952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107309826C>T	ENST00000282251.5	-	6	681	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CWF19L2_ENST00000433523.1_Silent_p.S218S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	218							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTTTAGTAATCGATGACACAC	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13512	0.0		0.0	False		,,,				2504	0.0					ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(652-654)tcG>tcA		CWF19-like 2, cell cycle control (S. pombe)							78.0	67.0	71.0					11																	107309826		2201	4298	6499	SO:0001819	synonymous_variant	143884						catalytic activity	g.chr11:107309826C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.654G>A	11.37:g.107309826C>T						CWF19L2_ENST00000433523.1_Silent_p.S218S	p.S218S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	6	681	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	218					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	c.654G>A	CCDS8336.2																																																																																				0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		17	89	0	0	0	1	0	17	89				
ELN	2006	broad.mit.edu	37	7	73462039	73462039	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73462039G>A	ENST00000252034.7	+	13	1077	c.678G>A	c.(676-678)ctG>ctA	p.L226L	ELN_ENST00000445912.1_Silent_p.L226L|ELN_ENST00000380562.4_Silent_p.L226L|ELN_ENST00000429192.1_Silent_p.L231L|ELN_ENST00000358929.4_Silent_p.L226L|ELN_ENST00000380576.5_Silent_p.L226L|ELN_ENST00000380584.4_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000357036.5_Silent_p.L231L|ELN_ENST00000414324.1_Silent_p.L221L|ELN_ENST00000380553.4_Intron|ELN_ENST00000458204.1_Silent_p.L216L|ELN_ENST00000380575.4_Silent_p.L216L|ELN_ENST00000320399.6_Silent_p.L226L	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	226					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGGGAAACTGCCCTATGGTG	0.607			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(676-678)ctG>ctA		elastin	Rofecoxib(DB00533)						178.0	156.0	163.0					7																	73462039		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73462039G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.678G>A	7.37:g.73462039G>A						ELN_ENST00000380562.4_Silent_p.L226L|ELN_ENST00000380575.4_Silent_p.L216L|ELN_ENST00000380576.5_Silent_p.L226L|ELN_ENST00000380584.4_Intron|ELN_ENST00000458204.1_Silent_p.L216L|ELN_ENST00000357036.5_Silent_p.L231L|ELN_ENST00000445912.1_Silent_p.L226L|ELN_ENST00000320399.6_Silent_p.L226L|ELN_ENST00000320492.7_Intron|ELN_ENST00000358929.4_Silent_p.L226L|ELN_ENST00000429192.1_Silent_p.L231L|ELN_ENST00000414324.1_Silent_p.L221L|ELN_ENST00000380553.4_Intron	p.L226L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			13	1077	+		Lung NSC(55;0.159)	226					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.678G>A	CCDS5562.2																																																																																				0.607	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		10	440	0	0	0	1	0	10	440				
TFPI	7035	broad.mit.edu	37	2	188332545	188332545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188332545C>T	ENST00000233156.3	-	7	1037	c.743G>A	c.(742-744)aGt>aAt	p.S248N	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	248	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CCCACATCCACTGTACTTAAA	0.408																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(742-744)aGt>aAt		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						158.0	152.0	154.0					2																	188332545		2203	4300	6503	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188332545C>T		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.743G>A	2.37:g.188332545C>T	ENSP00000233156:p.Ser248Asn					AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N|AC007319.1_ENST00000453517.1_RNA	p.S248N	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		7	1037	-			248			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.743G>A	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355321	0.61293	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055	T;T;T	0.58060	0.36;0.36;0.36	5.44	3.54	0.40534	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.204893	0.49916	D	0.000130	T	0.54367	0.1854	M	0.71581	2.175	0.29044	N	0.884898	P	0.52842	0.956	P	0.46049	0.502	T	0.54516	-0.8282	10	0.33141	T	0.24	.	12.2335	0.54500	0.0:0.6561:0.3439:0.0	.	248	P10646	TFPI1_HUMAN	N	248	ENSP00000376172:S248N;ENSP00000233156:S248N;ENSP00000397248:S248N	ENSP00000233156:S248N	S	-	2	0	TFPI	188040790	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.230000	0.42999	0.694000	0.31654	0.557000	0.71058	AGT		0.408	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		129	440	0	0	0	1	0	129	440				
FNDC1	84624	broad.mit.edu	37	6	159653575	159653575	+	Silent	SNP	G	G	A	rs373307678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159653575G>A	ENST00000297267.9	+	11	2231	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	FNDC1_ENST00000340366.6_Silent_p.P614P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	677	Ser-rich.				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)		GCCAGTCCCCGTCCAGCGTTC	0.706																																						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.(2029-2031)ccG>ccA		fibronectin type III domain containing 1		G		0,3878		0,0,1939	14.0	18.0	17.0		2031	-0.7	0.0	6		17	1,8175		0,1,4087	no	coding-synonymous	FNDC1	NM_032532.2		0,1,6026	AA,AG,GG		0.0122,0.0,0.0083		677/1895	159653575	1,12053	1939	4088	6027	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653575G>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.2031G>A	6.37:g.159653575G>A						FNDC1_ENST00000340366.6_Silent_p.P614P	p.P677P	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	2231	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	677			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.2031G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	5.566	0.289340	0.10513	0.0	1.22E-4	ENSG00000164694	ENST00000329629	.	.	.	4.79	-0.683	0.11335	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36625	-0.9740	4	.	.	.	-0.2902	4.3537	0.11167	0.0:0.3712:0.3191:0.3097	.	.	.	.	I	573	.	.	V	+	1	0	FNDC1	159573565	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.725000	0.04942	-0.380000	0.07894	-0.133000	0.14855	GTC		0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		45	184	0	0	0	1	0	45	184				
CAMSAP2	23271	broad.mit.edu	37	1	200817753	200817753	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817753T>G	ENST00000236925.4	+	12	1938	c.1889T>G	c.(1888-1890)aTt>aGt	p.I630S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I603S|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.I619S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	630					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TCAGAAGATATTCCTGAAACT	0.378																																						ENST00000358823.2																			0											c.(1855-1857)aTt>aGt		calmodulin regulated spectrin-associated protein family, member 2							119.0	116.0	117.0					1																	200817753		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817753T>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1889T>G	1.37:g.200817753T>G	ENSP00000236925:p.Ile630Ser					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.I630S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I603S	p.I619S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	2126	+			630					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.1856T>G		.	.	.	.	.	.	.	.	.	.	T	15.45	2.835861	0.50951	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.38722	1.12;1.12;1.12	5.72	5.72	0.89469	.	0.057116	0.64402	D	0.000002	T	0.51176	0.1659	L	0.53249	1.67	0.80722	D	1	P;P;D	0.58970	0.6;0.913;0.984	B;P;P	0.56788	0.187;0.528;0.806	T	0.44298	-0.9337	10	0.09084	T	0.74	-17.6841	16.0204	0.80478	0.0:0.0:0.0:1.0	.	603;630;619	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	619;603;630	ENSP00000351684:I619S;ENSP00000416800:I603S;ENSP00000236925:I630S	ENSP00000236925:I630S	I	+	2	0	CAMSAP1L1	199084376	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.499000	0.81566	2.174000	0.68829	0.533000	0.62120	ATT		0.378	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		139	483	0	0	0	1	0	139	483				
TEKT1	83659	broad.mit.edu	37	17	6733612	6733612	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6733612G>A	ENST00000338694.2	-	2	213	c.84C>T	c.(82-84)gaC>gaT	p.D28D	TEKT1_ENST00000535086.1_De_novo_Start_OutOfFrame	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	28						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTTGAGCGTCTGCTCTGT	0.468																																						ENST00000535086.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20								tektin 1							106.0	97.0	100.0					17																	6733612		2203	4300	6503	SO:0001819	synonymous_variant	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6733612G>A		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.84C>T	17.37:g.6733612G>A						TEKT1_ENST00000338694.2_Silent_p.D28D				Q969V4	TEKT1_HUMAN			0	158	-		Myeloproliferative disorder(207;0.0255)						D3DTM7	Translation_Start_Site	SNP	ENST00000338694.2	37		CCDS11083.1																																																																																				0.468	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		33	286	0	0	0	1	0	33	286				
HK2	3099	broad.mit.edu	37	2	75094762	75094762	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75094762G>T	ENST00000290573.2	+	3	826		c.e3-1		HK2_ENST00000409174.1_Splice_Site	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2						apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTCTCTGCAGAACACGGAGA	0.488																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.e3-1		hexokinase 2							221.0	237.0	231.0					2																	75094762		2203	4300	6503	SO:0001630	splice_region_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75094762G>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.227-1G>T	2.37:g.75094762G>T						HK2_ENST00000409174.1_Splice_Site		NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			3	826	+								D6W5J2|Q8WU87|Q9UN82	Splice_Site	SNP	ENST00000290573.2	37		CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554873	0.86231	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5892	0.84760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HK2	74948270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	.		0.488	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	Intron	315	1492	1	0	3.75818e-72	1	4.7802e-72	315	1492				
HUWE1	10075	broad.mit.edu	37	X	53674485	53674485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53674485G>A	ENST00000342160.3	-	5	634	c.177C>T	c.(175-177)gaC>gaT	p.D59D	HUWE1_ENST00000262854.6_Silent_p.D59D|HUWE1_ENST00000218328.8_Silent_p.D59D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	59					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATCGAAGCGGTCCAACAGGT	0.483																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(175-177)gaC>gaT		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							173.0	155.0	161.0					X																	53674485		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53674485G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.177C>T	X.37:g.53674485G>A						HUWE1_ENST00000262854.6_Silent_p.D59D|HUWE1_ENST00000218328.8_Silent_p.D59D	p.D59D			Q7Z6Z7	HUWE1_HUMAN			5	634	-			59					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.177C>T	CCDS35301.1																																																																																				0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		127	419	0	0	0	1	0	127	419				
LAMA1	284217	broad.mit.edu	37	18	7043403	7043403	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7043403T>C	ENST00000389658.3	-	8	1071	c.978A>G	c.(976-978)gcA>gcG	p.A326A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	326	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GACAATTACATGCTAGGAGAA	0.338																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.e8-1		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						97.0	86.0	90.0					18																	7043403		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7043403T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.977-1A>G	18.37:g.7043403T>C							p.A326_splice	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			8	1071	-		Colorectal(10;0.172)	326			Laminin EGF-like 1.			Splice_Site	SNP	ENST00000389658.3	37	c.976_splice	CCDS32787.1																																																																																				0.338	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Silent	14	385	0	0	0	1	0	14	385				
PTK7	5754	broad.mit.edu	37	6	43097480	43097480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43097480C>A	ENST00000230419.4	+	3	604	c.383C>A	c.(382-384)cCt>cAt	p.P128H	PTK7_ENST00000471863.1_Missense_Mutation_p.P128H|PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000481273.1_Missense_Mutation_p.P136H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	128	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGGCAGGTCCTGTGGTCCTG	0.612											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(382-384)cCt>cAt		protein tyrosine kinase 7							87.0	74.0	78.0					6																	43097480		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43097480C>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.383C>A	6.37:g.43097480C>A	ENSP00000230419:p.Pro128His		OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000471863.1_Missense_Mutation_p.P128H|PTK7_ENST00000481273.1_Missense_Mutation_p.P136H	p.P128H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	604	+			128			Ig-like C2-type 2.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.383C>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068967	0.76301	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.53	5.53	0.82687	Immunoglobulin-like (1);	0.279534	0.39146	N	0.001457	T	0.70815	0.3267	M	0.89968	3.075	0.30688	N	0.751661	B;D;P;D;D;D	0.89917	0.116;0.993;0.94;0.978;0.973;1.0	B;P;P;P;P;D	0.80764	0.063;0.854;0.717;0.854;0.852;0.994	T	0.73503	-0.3962	10	0.72032	D	0.01	.	14.0021	0.64439	0.0:0.7268:0.2732:0.0	.	136;128;128;128;128;128	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	128;128;128;128;128;136;136	ENSP00000230419:P128H;ENSP00000419037:P128H;ENSP00000325462:P128H;ENSP00000326029:P128H;ENSP00000325992:P128H;ENSP00000418754:P136H	ENSP00000230418:P128H	P	+	2	0	PTK7	43205458	0.011000	0.17503	0.996000	0.52242	0.989000	0.77384	1.593000	0.36686	2.596000	0.87737	0.462000	0.41574	CCT		0.612	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			42	273	1	0	1.03325e-14	1	1.12462e-14	42	273				
CHST8	64377	broad.mit.edu	37	19	34263210	34263210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263210C>T	ENST00000262622.4	+	4	1275	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	CHST8_ENST00000434302.1_Missense_Mutation_p.R173C|CHST8_ENST00000438847.3_Missense_Mutation_p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	173					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GAGCAGCAGCCGCCGGGCCGT	0.706																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(517-519)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							11.0	13.0	13.0					19																	34263210		2168	4219	6387	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263210C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.517C>T	19.37:g.34263210C>T	ENSP00000262622:p.Arg173Cys					CHST8_ENST00000434302.1_Missense_Mutation_p.R173C|CHST8_ENST00000438847.2_Missense_Mutation_p.R173C	p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1275	+	Esophageal squamous(110;0.162)		173					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.517C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547527	0.65311	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75477	-0.94;-0.94;-0.94	4.93	4.93	0.64822	.	0.420672	0.21221	N	0.078156	T	0.76955	0.4060	L	0.32530	0.975	0.49582	D	0.9998	D	0.76494	0.999	D	0.63703	0.917	T	0.75233	-0.3390	10	0.36615	T	0.2	-4.1341	12.8387	0.57788	0.1745:0.8255:0.0:0.0	.	173	Q9H2A9	CHST8_HUMAN	C	173	ENSP00000392604:R173C;ENSP00000393879:R173C;ENSP00000262622:R173C	ENSP00000262622:R173C	R	+	1	0	CHST8	38955050	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.078000	0.41567	2.262000	0.75019	0.478000	0.44815	CGC		0.706	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		44	169	0	0	0	1	0	44	169				
SLITRK5	26050	broad.mit.edu	37	13	88328479	88328479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88328479C>A	ENST00000325089.6	+	2	1055	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	279	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(835-837)tCc>tAc		SLIT and NTRK-like family, member 5							80.0	82.0	81.0					13																	88328479		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328479C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.836C>A	13.37:g.88328479C>A	ENSP00000366283:p.Ser279Tyr					SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	p.S279Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1055	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		279			LRRCT 1.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.836C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230717	0.58777	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57107	0.42;0.42	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.059456	0.64402	D	0.000002	T	0.68641	0.3023	M	0.64567	1.98	0.54753	D	0.999983	D;D	0.64830	0.994;0.988	P;D	0.64042	0.885;0.921	T	0.66412	-0.5930	9	.	.	.	-10.8497	17.464	0.87627	0.0:1.0:0.0:0.0	.	38;279	B4DSH5;O94991	.;SLIK5_HUMAN	Y	279;38	ENSP00000366283:S279Y;ENSP00000442244:S38Y	.	S	+	2	0	SLITRK5	87126480	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.765000	0.68834	2.724000	0.93272	0.491000	0.48974	TCC		0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			100	455	1	0	1.66795e-42	1	2.03135e-42	100	455				
SWT1	54823	broad.mit.edu	37	1	185171900	185171900	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185171900G>T	ENST00000367500.4	+	11	1803	c.1638G>T	c.(1636-1638)caG>caT	p.Q546H	SWT1_ENST00000367501.3_Missense_Mutation_p.Q546H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	546										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGTGTCATCAGCCTTGTATTC	0.308																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1636-1638)caG>caT		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							94.0	95.0	95.0					1																	185171900		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185171900G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1638G>T	1.37:g.185171900G>T	ENSP00000356470:p.Gln546His					SWT1_ENST00000367501.3_Missense_Mutation_p.Q546H	p.Q546H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			11	1803	+			546					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1638G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183600	0.57800	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19806	2.12;2.12	5.49	2.44	0.29823	.	0.567042	0.19708	N	0.107866	T	0.32102	0.0818	M	0.68317	2.08	0.31268	N	0.692134	D	0.64830	0.994	P	0.59012	0.85	T	0.25641	-1.0126	10	0.38643	T	0.18	.	4.8218	0.13394	0.2525:0.156:0.5915:0.0	.	546	Q5T5J6	SWT1_HUMAN	H	546	ENSP00000356471:Q546H;ENSP00000356470:Q546H	ENSP00000356470:Q546H	Q	+	3	2	SWT1	183438523	0.715000	0.27946	1.000000	0.80357	0.870000	0.49936	0.248000	0.18198	0.815000	0.34398	-0.123000	0.14984	CAG		0.308	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		15	357	1	0	6.94344e-10	1	7.33246e-10	15	357				
MECOM	2122	broad.mit.edu	37	3	168834009	168834009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168834009C>T	ENST00000464456.1	-	7	2287	c.1087G>A	c.(1087-1089)Gta>Ata	p.V363I	MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000433243.2_Missense_Mutation_p.V364I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000494292.1_Missense_Mutation_p.V551I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGTCCCCTACAGATGGGTGT	0.473																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1087-1089)Gta>Ata		MDS1 and EVI1 complex locus							418.0	351.0	373.0					3																	168834009		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834009C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1087G>A	3.37:g.168834009C>T	ENSP00000419770:p.Val363Ile					MECOM_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I|MECOM_ENST00000494292.1_Missense_Mutation_p.V551I|MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I|MECOM_ENST00000433243.2_Missense_Mutation_p.V364I	p.V363I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2287	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1087G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851529	0.17034	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05382	3.5;3.5;3.46;3.6;3.45;3.5;3.45;3.6	6.03	5.15	0.70609	.	0.000000	0.44688	D	0.000431	T	0.05960	0.0155	L	0.34521	1.04	0.29860	N	0.827733	B;B;B;B;B	0.13594	0.008;0.002;0.005;0.004;0.0	B;B;B;B;B	0.12156	0.007;0.007;0.003;0.005;0.001	T	0.10337	-1.0634	10	0.37606	T	0.19	-6.5751	9.695	0.40152	0.0:0.7931:0.0:0.2069	.	551;364;551;428;363	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	I	428;363;363;364;551;363;363;364	ENSP00000264674:V428I;ENSP00000376493:V363I;ENSP00000419770:V363I;ENSP00000420048:V364I;ENSP00000417899:V551I;ENSP00000419995:V363I;ENSP00000420466:V363I;ENSP00000394302:V364I	ENSP00000264674:V428I	V	-	1	0	MECOM	170316703	0.995000	0.38212	1.000000	0.80357	0.904000	0.53231	1.131000	0.31406	1.558000	0.49541	0.655000	0.94253	GTA		0.473	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		88	349	0	0	0	1	0	88	349				
ATP9A	10079	broad.mit.edu	37	20	50329607	50329607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50329607C>T	ENST00000338821.5	-	4	598	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M|ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	112					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGCCAGCACGAAGCCCTGC	0.627																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(334-336)Gtg>Atg		ATPase, class II, type 9A							77.0	52.0	61.0					20																	50329607		2203	4299	6502	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50329607C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.334G>A	20.37:g.50329607C>T	ENSP00000342481:p.Val112Met					ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M|ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M	p.V112M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			4	598	-			112					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.334G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761489	0.89932	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.83335	-1.71;-1.71;-1.71	4.8	4.8	0.61643	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060523	0.64402	D	0.000004	D	0.93501	0.7926	H	0.94734	3.575	0.36707	D	0.880458	D;D	0.69078	0.963;0.997	P;D	0.70016	0.758;0.967	D	0.97222	0.9878	10	0.87932	D	0	-25.178	17.8464	0.88731	0.0:1.0:0.0:0.0	.	112;112	O75110-2;O75110	.;ATP9A_HUMAN	M	97;112;112	ENSP00000309086:V97M;ENSP00000342481:V112M;ENSP00000385875:V112M	ENSP00000309086:V97M	V	-	1	0	ATP9A	49763014	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.082000	0.76851	2.216000	0.71823	0.557000	0.71058	GTG		0.627	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		10	57	0	0	0	1	0	10	57				
CACNA1E	777	broad.mit.edu	37	1	181702155	181702155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181702155C>A	ENST00000367573.2	+	20	2933	c.2933C>A	c.(2932-2934)gCc>gAc	p.A978D	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A959D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	978					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A978D(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGAGAGAGCCCAGGATTTA	0.542																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.A978D(1)	lung(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2875-2877)gCc>gAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							38.0	44.0	42.0					1																	181702155		2085	4217	6302	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702155C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2933C>A	1.37:g.181702155C>A	ENSP00000356545:p.Ala978Asp					CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A978D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D	p.A959D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	3041	+			978					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2876C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197918	0.09652	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96136	-3.85;-3.86;-3.86;-3.86;-3.92;-3.87;-3.86	4.03	1.06	0.20224	.	2.114420	0.03186	U	0.172771	D	0.88418	0.6431	N	0.08118	0	0.09310	N	1	B;B;B	0.21905	0.062;0.005;0.032	B;B;B	0.18871	0.023;0.015;0.023	T	0.79524	-0.1768	10	0.11485	T	0.65	.	9.042	0.36322	0.0:0.3528:0.5552:0.092	.	959;978;978	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	978;959;929;910;585;959;978	ENSP00000356542:A978D;ENSP00000434814:A959D;ENSP00000350183:A929D;ENSP00000351101:A910D;ENSP00000356539:A585D;ENSP00000353222:A959D;ENSP00000356545:A978D	ENSP00000350183:A929D	A	+	2	0	CACNA1E	179968778	0.000000	0.05858	0.009000	0.14445	0.594000	0.36715	-0.289000	0.08365	0.246000	0.21394	0.555000	0.69702	GCC		0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		29	174	1	0	1.77063e-15	1	1.9355e-15	29	174				
CRELD1	78987	broad.mit.edu	37	3	9982832	9982832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982832G>T	ENST00000383811.3	+	6	1274	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	225					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGGACCTGAGGAATCAAACT	0.602																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(673-675)gaG>gaT		cysteine-rich with EGF-like domains 1							115.0	110.0	112.0					3																	9982832		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982832G>T	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.675G>T	3.37:g.9982832G>T	ENSP00000373322:p.Glu225Asp					CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D	p.E225D	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			6	1274	+			225					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.675G>T	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109127	0.37242	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.96	3.11	0.35812	Growth factor, receptor (1);	0.192965	0.43919	D	0.000509	T	0.67353	0.2884	N	0.03608	-0.345	0.39846	D	0.97317	P;B	0.38922	0.651;0.42	B;B	0.35859	0.212;0.099	T	0.63220	-0.6686	9	.	.	.	-11.5993	8.3398	0.32237	0.0873:0.1569:0.7558:0.0	.	225;225	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	D	225	ENSP00000380355:E225D;ENSP00000373322:E225D;ENSP00000393643:E225D;ENSP00000321856:E225D	.	E	+	3	2	CRELD1	9957832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.240000	0.58701	0.637000	0.30526	0.561000	0.74099	GAG		0.602	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		63	321	1	0	1.05635e-38	1	1.2743e-38	63	321				
PSMD1	5707	broad.mit.edu	37	2	232011056	232011056	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232011056A>C	ENST00000308696.6	+	18	2263	c.2101A>C	c.(2101-2103)Atc>Ctc	p.I701L	PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L|PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	701					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAGACTGAAATCACTTGTCC	0.423																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(2101-2103)Atc>Ctc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						102.0	95.0	98.0					2																	232011056		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:232011056A>C	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2101A>C	2.37:g.232011056A>C	ENSP00000309474:p.Ile701Leu					PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L|PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L	p.I701L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	18	2263	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	701					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.2101A>C	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955218	0.53293	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.054170	0.85682	D	0.000000	T	0.18257	0.0438	N	0.08118	0	0.52501	D	0.999955	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.04053	-1.0981	10	0.48119	T	0.1	-12.4273	14.2797	0.66202	1.0:0.0:0.0:0.0	.	701;701	Q99460;Q99460-2	PSMD1_HUMAN;.	L	701	ENSP00000309474:I701L;ENSP00000362738:I701L;ENSP00000386932:I701L	ENSP00000309474:I701L	I	+	1	0	PSMD1	231719300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.706000	0.54830	2.073000	0.62155	0.454000	0.30748	ATC		0.423	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			133	427	0	0	0	1	0	133	427				
SERPINA12	145264	broad.mit.edu	37	14	94962746	94962746	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94962746T>C	ENST00000341228.2	-	4	1664	c.869A>G	c.(868-870)gAc>gGc	p.D290G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	290					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGAGAAAGTGTCCACCTGCAA	0.478																																						ENST00000341228.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(868-870)gAc>gGc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							172.0	164.0	167.0					14																	94962746		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94962746T>C	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.869A>G	14.37:g.94962746T>C	ENSP00000342109:p.Asp290Gly					SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	p.D290G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	4	1664	-			290						Missense_Mutation	SNP	ENST00000341228.2	37	c.869A>G	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.805753	0.31961	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84589	-1.87;-1.87	5.46	5.46	0.80206	Serpin domain (3);	0.373627	0.25804	N	0.028183	T	0.81922	0.4925	M	0.62088	1.915	0.24392	N	0.994748	B	0.30068	0.267	B	0.34722	0.188	T	0.73799	-0.3869	10	0.41790	T	0.15	.	5.974	0.19369	0.1464:0.0786:0.0:0.775	.	290	Q8IW75	SPA12_HUMAN	G	290	ENSP00000451738:D290G;ENSP00000342109:D290G	ENSP00000342109:D290G	D	-	2	0	SERPINA12	94032499	0.155000	0.22806	0.026000	0.17262	0.005000	0.04900	3.341000	0.52151	2.074000	0.62210	0.459000	0.35465	GAC		0.478	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		110	453	0	0	0	1	0	110	453				
RGS1	5996	broad.mit.edu	37	1	192545470	192545470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192545470A>G	ENST00000367459.3	+	2	259	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	65					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GGAATCTGGAATGAAATCTTC	0.338																																						ENST00000367459.3																			0				kidney(8)|large_intestine(1)|lung(13)	22						c.(193-195)Atg>Gtg		regulator of G-protein signaling 1							78.0	78.0	78.0					1																	192545470		2203	4297	6500	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192545470A>G	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.193A>G	1.37:g.192545470A>G	ENSP00000356429:p.Met65Val					RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	p.M65V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN			2	259	+		Breast(1374;0.188)	65					B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.193A>G	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773599	0.31411	.	.	ENSG00000090104	ENST00000367459	T	0.36699	1.24	5.91	4.72	0.59763	.	1.982040	0.02048	N	0.049806	T	0.28433	0.0703	N	0.14661	0.345	0.36212	D	0.851395	B;B	0.16802	0.019;0.0	B;B	0.12837	0.008;0.0	T	0.03566	-1.1024	10	0.27785	T	0.31	.	11.8361	0.52325	0.8539:0.1461:0.0:0.0	.	65;65	Q08116-2;Q08116	.;RGS1_HUMAN	V	65	ENSP00000356429:M65V	ENSP00000356429:M65V	M	+	1	0	RGS1	190812093	0.994000	0.37717	0.997000	0.53966	0.932000	0.56968	2.090000	0.41682	2.254000	0.74563	0.533000	0.62120	ATG		0.338	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		22	258	0	0	0	1	0	22	258				
GALNT1	2589	broad.mit.edu	37	18	33234660	33234660	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33234660G>T	ENST00000269195.5	+	1	137	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	12					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GGTGGTCCTAGCCACCTCCTT	0.348																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(34-36)Gcc>Tcc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							94.0	75.0	81.0					18																	33234660		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33234660G>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.34G>T	18.37:g.33234660G>T	ENSP00000269195:p.Ala12Ser					GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	p.A12S	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			1	137	+			12					Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.34G>T	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110703	0.56398	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.55760	0.5	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.65498	2.005	0.80722	D	1	P	0.38148	0.62	B	0.43575	0.424	T	0.60900	-0.7171	10	0.51188	T	0.08	.	17.6198	0.88077	0.0:0.0:1.0:0.0	.	12	Q10472	GALT1_HUMAN	S	12	ENSP00000269195:A12S	ENSP00000269195:A12S	A	+	1	0	GALNT1	31488658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.819000	0.62664	2.749000	0.94314	0.655000	0.94253	GCC		0.348	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		28	135	1	0	2.44723e-14	1	2.65813e-14	28	135				
CPAMD8	27151	broad.mit.edu	37	19	17013581	17013581	+	Silent	SNP	C	C	T	rs200862393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17013581C>T	ENST00000443236.1	-	35	4735	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1521						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCATGGGGGGCGGGCGTCCCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17468	0.0		0.001	False		,,,				2504	0.0					ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4702-4704)ccG>ccA		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C		2,3928		0,2,1963	44.0	52.0	49.0		4704	-4.5	0.0	19		49	9,8273		0,9,4132	no	coding-synonymous	CPAMD8	NM_015692.2		0,11,6095	TT,TC,CC		0.1087,0.0509,0.0901		1568/1933	17013581	11,12201	1965	4141	6106	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17013581C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4704G>A	19.37:g.17013581C>T							p.P1568P	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			35	4735	-			1521					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.4704G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	2.048	-0.418387	0.04766	5.09E-4	0.001087	ENSG00000160111	ENST00000443236	.	.	.	2.24	-4.49	0.03504	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	.	0.9537	0.01381	0.1533:0.3568:0.1509:0.339	.	.	.	.	H	1579	.	.	R	-	2	0	CPAMD8	16874581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.634000	0.00869	-1.209000	0.02631	-2.791000	0.00116	CGC		0.647	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		113	465	0	0	0	1	0	113	465				
HS3ST2	9956	broad.mit.edu	37	16	22926338	22926338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926338G>A	ENST00000261374.3	+	2	993	c.559G>A	c.(559-561)Gct>Act	p.A187T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	187					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CACTCAAGAGGCTCCTCGACG	0.562																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(559-561)Gct>Act		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							103.0	96.0	98.0					16																	22926338		2197	4300	6497	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926338G>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.559G>A	16.37:g.22926338G>A	ENSP00000261374:p.Ala187Thr						p.A187T	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	993	+			187					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.559G>A	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655980	0.47467	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.48836	0.8	5.25	4.3	0.51218	Sulfotransferase domain (1);	0.051785	0.85682	D	0.000000	T	0.45155	0.1328	L	0.43646	1.37	0.80722	D	1	P	0.42649	0.786	B	0.44044	0.439	T	0.42361	-0.9456	10	0.49607	T	0.09	.	13.1286	0.59369	0.0769:0.0:0.9231:0.0	.	187	Q9Y278	HS3S2_HUMAN	T	187;195	ENSP00000261374:A187T	ENSP00000261374:A187T	A	+	1	0	HS3ST2	22833839	1.000000	0.71417	0.999000	0.59377	0.153000	0.21895	5.575000	0.67430	1.225000	0.43566	0.561000	0.74099	GCT		0.562	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		147	507	0	0	0	1	0	147	507				
COL7A1	1294	broad.mit.edu	37	3	48631916	48631916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48631916G>A	ENST00000328333.8	-	2	258	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	51	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAATTGCTGCGGCCAATGGAT	0.602																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CM063914	COL7A1	M		c.(151-153)Cgc>Tgc		collagen, type VII, alpha 1							45.0	40.0	41.0					3																	48631916		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48631916G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.151C>T	3.37:g.48631916G>A	ENSP00000332371:p.Arg51Cys					COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	p.R51C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	258	-			51			Nonhelical region (NC1).|VWFA 1.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.151C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.657006	0.47467	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83673	-1.75;-1.75	4.88	4.88	0.63580	von Willebrand factor, type A (3);	0.000000	0.45606	D	0.000358	D	0.91955	0.7452	M	0.90977	3.165	0.52501	D	0.999955	D	0.89917	1.0	D	0.85130	0.997	D	0.92770	0.6231	10	0.62326	D	0.03	.	11.3221	0.49428	0.0:0.0:0.7699:0.2301	.	51	Q02388	CO7A1_HUMAN	C	51	ENSP00000332371:R51C;ENSP00000412569:R51C	ENSP00000332371:R51C	R	-	1	0	COL7A1	48606920	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.687000	0.46976	2.425000	0.82216	0.555000	0.69702	CGC		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		43	151	0	0	0	1	0	43	151				
CDCA4	55038	broad.mit.edu	37	14	105477705	105477705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105477705A>G	ENST00000336219.3	-	2	717	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	188						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		AGGTCGTAGTAGGGGCTGTCC	0.587																																						ENST00000336219.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(562-564)Tac>Cac		cell division cycle associated 4							69.0	64.0	66.0					14																	105477705		2203	4300	6503	SO:0001583	missense	55038					nucleus		g.chr14:105477705A>G	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.562T>C	14.37:g.105477705A>G	ENSP00000337226:p.Tyr188His					CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	p.Y188H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	717	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	188					Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	c.562T>C	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739827	0.49045	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.45276	0.9;0.9	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.70275	2.135	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.63743	-0.6568	10	0.45353	T	0.12	-0.0155	13.5504	0.61728	1.0:0.0:0.0:0.0	.	188	Q9BXL8	CDCA4_HUMAN	H	188	ENSP00000337226:Y188H;ENSP00000376369:Y188H	ENSP00000337226:Y188H	Y	-	1	0	CDCA4	104548750	1.000000	0.71417	0.994000	0.49952	0.088000	0.18126	5.796000	0.69080	1.856000	0.53863	0.529000	0.55759	TAC		0.587	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		59	267	0	0	0	1	0	59	267				
ITCH	83737	broad.mit.edu	37	20	33057852	33057852	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33057852G>A	ENST00000262650.6	+	16	1683		c.e16-1		ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000483727.1_Splice_Site|ITCH_ENST00000374864.4_Splice_Site			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase						apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTCTTCCTCAGAGACAATGGA	0.423																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.e15-1		itchy E3 ubiquitin protein ligase							223.0	211.0	215.0					20																	33057852		2203	4300	6503	SO:0001630	splice_region_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33057852G>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1548-1G>A	20.37:g.33057852G>A						ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000262650.6_Splice_Site|ITCH_ENST00000483727.1_Splice_Site		NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			15	1637	+								A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Splice_Site	SNP	ENST00000262650.6	37		CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080202	0.94050	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITCH	32521513	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.471000	0.97696	2.885000	0.99019	0.655000	0.94253	.		0.423	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2		Intron	123	620	0	0	0	1	0	123	620				
TTC8	123016	broad.mit.edu	37	14	89343705	89343705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89343705A>G	ENST00000345383.5	+	14	1553	c.1469A>G	c.(1468-1470)gAc>gGc	p.D490G	TTC8_ENST00000358622.5_Missense_Mutation_p.D302G|TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000338104.6_Missense_Mutation_p.D516G|TTC8_ENST00000346301.4_Missense_Mutation_p.D460G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000354441.6_Missense_Mutation_p.D235G	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	526					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GACCATGTGGACACACAACAT	0.398																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1546-1548)gAc>gGc		tetratricopeptide repeat domain 8							109.0	93.0	98.0					14																	89343705		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89343705A>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1469A>G	14.37:g.89343705A>G	ENSP00000339486:p.Asp490Gly					TTC8_ENST00000345383.5_Missense_Mutation_p.D490G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000358622.5_Missense_Mutation_p.D302G|TTC8_ENST00000346301.4_Missense_Mutation_p.D460G|TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000354441.6_Missense_Mutation_p.D235G	p.D516G			Q8TAM2	TTC8_HUMAN			15	1599	+			526					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1547A>G	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.22|17.22	3.334667|3.334667	0.60853|0.60853	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.78595|.	0.58;0.58;0.58;0.58;0.58;-1.19;-1.19|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.046399|.	0.85682|.	D|.	0.000000|.	T|T	0.73961|0.73961	0.3654|0.3654	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;B;P;B;B|.	0.59767|.	0.986;0.006;0.952;0.036;0.036|.	P;B;P;B;B|.	0.57846|.	0.828;0.02;0.612;0.044;0.073|.	T|T	0.74426|0.74426	-0.3669|-0.3669	10|5	0.46703|.	T|.	0.11|.	-23.1343|-23.1343	15.7397|15.7397	0.77882|0.77882	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	235;261;526;470;500|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	G|A	490;261;460;516;235;500;302|422	ENSP00000339486:D490G;ENSP00000445067:D261G;ENSP00000298324:D460G;ENSP00000337653:D516G;ENSP00000346427:D235G;ENSP00000370031:D500G;ENSP00000351439:D302G|.	ENSP00000337653:D516G|.	D|T	+|+	2|1	0|0	TTC8|TTC8	88413458|88413458	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.973000|0.973000	0.67179|0.67179	8.532000|8.532000	0.90613|0.90613	2.180000|2.180000	0.69256|0.69256	0.383000|0.383000	0.25322|0.25322	GAC|ACA		0.398	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		7	345	0	0	0	1	0	7	345				
KRT27	342574	broad.mit.edu	37	17	38933853	38933853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38933853C>A	ENST00000301656.3	-	6	1144	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CATACTCGAGCTTCTGGCCCT	0.557																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1102-1104)aaG>aaT		keratin 27							154.0	154.0	154.0					17																	38933853		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933853C>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1104G>T	17.37:g.38933853C>A	ENSP00000301656:p.Lys368Asn					KRT27_ENST00000540723.1_5'UTR	p.K368N	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			6	1144	-		Breast(137;0.000812)	368			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.1104G>T	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	1.307	-0.603277	0.03744	.	.	ENSG00000171446	ENST00000301656	D	0.88046	-2.33	5.56	-6.61	0.01818	Filament (1);	0.000000	0.64402	D	0.000002	T	0.62600	0.2441	N	0.03000	-0.44	0.09310	N	0.999994	B	0.22080	0.064	B	0.26614	0.071	T	0.58951	-0.7545	10	0.02654	T	1	.	13.8548	0.63519	0.0:0.615:0.136:0.2491	.	368	Q7Z3Y8	K1C27_HUMAN	N	368	ENSP00000301656:K368N	ENSP00000301656:K368N	K	-	3	2	KRT27	36187379	0.000000	0.05858	0.846000	0.33378	0.839000	0.47603	-2.826000	0.00746	-1.254000	0.02485	-0.145000	0.13849	AAG		0.557	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		101	1026	1	0	1.15773e-35	1	1.38295e-35	101	1026				
MC2R	4158	broad.mit.edu	37	18	13884791	13884791	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884791T>C	ENST00000327606.3	-	2	907	c.727A>G	c.(727-729)Aca>Gca	p.T243A		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	243					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGGCAGAATGTCATCAAGAGG	0.532																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(727-729)Aca>Gca		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						82.0	75.0	77.0					18																	13884791		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884791T>C		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.727A>G	18.37:g.13884791T>C	ENSP00000333821:p.Thr243Ala						p.T243A	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	907	-			243					A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.727A>G	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013816	0.54468	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.35789	1.29	5.18	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.206931	0.49916	D	0.000128	T	0.25938	0.0632	N	0.25144	0.715	0.26256	N	0.978658	P	0.39424	0.673	B	0.40702	0.338	T	0.10730	-1.0617	10	0.66056	D	0.02	.	8.1081	0.30898	0.0:0.1569:0.0:0.8431	.	243	Q01718	ACTHR_HUMAN	A	243	ENSP00000333821:T243A	ENSP00000333821:T243A	T	-	1	0	MC2R	13874791	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.002000	0.49496	0.806000	0.34183	0.533000	0.62120	ACA		0.532	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			51	277	0	0	0	1	0	51	277				
KIAA1217	56243	broad.mit.edu	37	10	24813290	24813290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24813290C>T	ENST00000376454.3	+	13	2525	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A515V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	832					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACGGACGCAGCCCAAGCCGCA	0.567																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1543-1545)gCc>gTc		KIAA1217							73.0	75.0	74.0					10																	24813290		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813290C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2495C>T	10.37:g.24813290C>T	ENSP00000365637:p.Ala832Val					KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A832V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V	p.A515V			Q5T5P2	SKT_HUMAN			8	1804	+			832					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1544C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598899	0.28445	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.61	5.61	0.85477	.	0.937129	0.09094	N	0.849465	T	0.44477	0.1295	L	0.29908	0.895	0.25320	N	0.989121	B;B;B;B;P;B;P;B	0.43477	0.383;0.098;0.383;0.011;0.707;0.383;0.808;0.328	B;B;B;B;B;B;B;B	0.40864	0.124;0.021;0.124;0.028;0.318;0.248;0.342;0.178	T	0.23583	-1.0184	10	0.18276	T	0.48	.	14.4641	0.67472	0.1471:0.8529:0.0:0.0	.	797;797;515;515;515;515;832;832	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	V	752;797;797;515;832;797;647;515;515;515;515;515	ENSP00000365645:A752V;ENSP00000365639:A797V;ENSP00000392625:A797V;ENSP00000365637:A832V;ENSP00000365635:A797V;ENSP00000404798:A647V;ENSP00000302343:A515V;ENSP00000379722:A515V;ENSP00000365634:A515V;ENSP00000379723:A515V	ENSP00000302343:A515V	A	+	2	0	KIAA1217	24853296	0.042000	0.20092	0.987000	0.45799	0.222000	0.24845	2.307000	0.43682	2.643000	0.89663	0.561000	0.74099	GCC		0.567	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		19	409	0	0	0	1	0	19	409				
LILRB5	10990	broad.mit.edu	37	19	54754901	54754901	+	Intron	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54754901T>C	ENST00000316219.5	-	13	1734				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Silent_p.A578A|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTCTTCTGCCTGTCTGT	0.587																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1732-1734)gcA>gcG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754901T>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-105A>G	19.37:g.54754901T>C						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	p.A578A			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1811	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		378					Q8N760	Silent	SNP	ENST00000316219.5	37	c.1734A>G	CCDS12885.1																																																																																				0.587	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			14	153	0	0	0	1	0	14	153				
SEL1L2	80343	broad.mit.edu	37	20	13868619	13868619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868619G>T	ENST00000284951.5	-	7	706	c.632C>A	c.(631-633)gCt>gAt	p.A211D	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	211						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTCCTCCAGCACTTCCAAA	0.343																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(631-633)gCt>gAt		sel-1 suppressor of lin-12-like 2 (C. elegans)							68.0	63.0	65.0					20																	13868619		1824	4082	5906	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13868619G>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.632C>A	20.37:g.13868619G>T	ENSP00000284951:p.Ala211Asp					SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D|SEL1L2_ENST00000486903.1_5'UTR	p.A211D			Q5TEA6	SE1L2_HUMAN			7	706	-			211					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.632C>A		.	.	.	.	.	.	.	.	.	.	G	19.56	3.851123	0.71719	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.44083	0.93;0.93	5.58	4.63	0.57726	Tetratricopeptide-like helical (1);	0.470461	0.19972	N	0.101948	T	0.41282	0.1152	N	0.17723	0.515	0.35851	D	0.826768	D;D	0.69078	0.982;0.997	P;D	0.67548	0.796;0.952	T	0.25328	-1.0135	10	0.12430	T	0.62	-6.6926	9.3908	0.38372	0.0946:0.0:0.9054:0.0	.	211;211	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	211	ENSP00000367312:A211D;ENSP00000284951:A211D	ENSP00000284951:A211D	A	-	2	0	SEL1L2	13816619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.615000	0.88500	0.650000	0.86243	GCT		0.343	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		37	186	1	0	2.1956e-27	1	2.54205e-27	37	186				
NPAP1	23742	broad.mit.edu	37	15	24924410	24924410	+	Missense_Mutation	SNP	A	A	C	rs376448906		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24924410A>C	ENST00000329468.2	+	1	3870	c.3396A>C	c.(3394-3396)aaA>aaC	p.K1132N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1132					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAGAGAAAATTCTACACTT	0.483																																						ENST00000329468.2																			0											c.(3394-3396)aaA>aaC		nuclear pore associated protein 1		A	ASN/LYS	0,4406		0,0,2203	126.0	111.0	116.0		3396	-4.1	0.0	15		116	1,8599		0,1,4299	no	missense	C15orf2	NM_018958.2	94	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging	1132/1157	24924410	1,13005	2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924410A>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3396A>C	15.37:g.24924410A>C	ENSP00000333735:p.Lys1132Asn						p.K1132N	NM_018958.2	NP_061831.2					1	3870	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3396A>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.27	1.588436	0.28357	0.0	1.16E-4	ENSG00000185823	ENST00000329468	T	0.08896	3.04	2.03	-4.07	0.03975	.	.	.	.	.	T	0.03651	0.0104	N	0.22421	0.69	0.09310	N	1	P	0.34977	0.478	B	0.25987	0.065	T	0.20107	-1.0285	9	0.48119	T	0.1	.	1.3109	0.02097	0.3645:0.2343:0.2778:0.1235	.	1132	Q9NZP6	CO002_HUMAN	N	1132	ENSP00000333735:K1132N	ENSP00000333735:K1132N	K	+	3	2	C15orf2	22475503	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-0.823000	0.04443	-2.202000	0.00745	-0.736000	0.03550	AAA		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		139	618	0	0	0	1	0	139	618				
FAM64A	54478	broad.mit.edu	37	17	6348719	6348719	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6348719T>C	ENST00000250056.8	+	2	372	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000572447.1_Missense_Mutation_p.S97P|FAM64A_ENST00000572595.2_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	97					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGGTGCCGTGTCCCAGGTAAT	0.547																																						ENST00000572447.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(289-291)Tcc>Ccc		family with sequence similarity 64, member A							52.0	58.0	56.0					17																	6348719		2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6348719T>C		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.289T>C	17.37:g.6348719T>C	ENSP00000250056:p.Ser97Pro					FAM64A_ENST00000250056.8_Missense_Mutation_p.S97P|FAM64A_ENST00000572595.2_Missense_Mutation_p.S97P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P	p.S97P	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	398	+			97					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.289T>C	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552859	0.45487	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56611	0.45	4.75	3.6	0.41247	.	0.080661	0.51477	D	0.000096	T	0.67468	0.2896	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75484	0.986;0.943	T	0.70107	-0.4963	10	0.87932	D	0	-22.6153	8.0664	0.30663	0.0:0.0:0.2059:0.7941	.	97;97	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	P	97	ENSP00000250056:S97P	ENSP00000250056:S97P	S	+	1	0	FAM64A	6289443	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	2.234000	0.43035	2.143000	0.66587	0.533000	0.62120	TCC		0.547	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		65	284	0	0	0	1	0	65	284				
ABI3BP	25890	broad.mit.edu	37	3	100645275	100645275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100645275G>A	ENST00000284322.5	-	2	260	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ABI3BP_ENST00000471714.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000532144.1_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	51					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AACTTCAAGAGGATGGAGTCA	0.448																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(151-153)Ctc>Ttc		ABI family, member 3 (NESH) binding protein							208.0	203.0	205.0					3																	100645275		1986	4155	6141	SO:0001583	missense	25890					extracellular space		g.chr3:100645275G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.151C>T	3.37:g.100645275G>A	ENSP00000284322:p.Leu51Phe					ABI3BP_ENST00000284322.5_Missense_Mutation_p.L51F|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F	p.L51F			Q7Z7G0	TARSH_HUMAN			2	260	-			51					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.151C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250444	0.22880	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.24538	2.05;1.85	5.55	-1.72	0.08107	.	0.439683	0.23856	N	0.043881	T	0.12178	0.0296	N	0.14661	0.345	0.51012	D	0.999903	B;B;B	0.11235	0.004;0.0;0.003	B;B;B	0.11329	0.006;0.002;0.004	T	0.11494	-1.0585	10	0.35671	T	0.21	-0.1114	8.3435	0.32258	0.5828:0.1163:0.3009:0.0	.	44;51;51	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	F	51	ENSP00000420524:L51F;ENSP00000284322:L51F	ENSP00000284322:L51F	L	-	1	0	ABI3BP	102127965	0.991000	0.36638	0.840000	0.33206	0.930000	0.56654	0.214000	0.17541	-0.757000	0.04697	-0.808000	0.03180	CTC		0.448	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			43	196	0	0	0	1	0	43	196				
SIL1	64374	broad.mit.edu	37	5	138356876	138356876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138356876C>T	ENST00000394817.2	-	7	890	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S|CTB-46B19.2_ENST00000510110.1_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	251	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCAGCGCCCAGCACAAAC	0.527									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(751-753)Ggc>Agc		SIL1 nucleotide exchange factor							112.0	91.0	98.0					5																	138356876		2203	4300	6503	SO:0001583	missense	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138356876C>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.751G>A	5.37:g.138356876C>T	ENSP00000378294:p.Gly251Ser					CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S	p.G251S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	890	-			251			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	c.751G>A	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089502	0.94149	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000505945	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.80183	2.485	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.72421	-0.4299	10	0.33141	T	0.24	-34.4582	19.0941	0.93242	0.0:1.0:0.0:0.0	.	57;258;251	A0RZB6;D6REA1;Q9H173	.;.;SIL1_HUMAN	S	251;251;166;258;57	ENSP00000378294:G251S;ENSP00000265195:G251S;ENSP00000426858:G258S;ENSP00000425136:G57S	ENSP00000265195:G251S	G	-	1	0	SIL1	138384775	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.265000	0.72534	2.669000	0.90835	0.563000	0.77884	GGC		0.527	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		49	250	0	0	0	1	0	49	250				
KCNH4	23415	broad.mit.edu	37	17	40321559	40321559	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40321559T>C	ENST00000264661.3	-	9	1858	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	509					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGCGCTGCTTGAGCGGCCG	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1525-1527)aAg>aGg		potassium voltage-gated channel, subfamily H (eag-related), member 4							77.0	70.0	72.0					17																	40321559		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321559T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1526A>G	17.37:g.40321559T>C	ENSP00000264661:p.Lys509Arg					KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	p.K509R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1858	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	509						Missense_Mutation	SNP	ENST00000264661.3	37	c.1526A>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795161	0.50208	.	.	ENSG00000089558	ENST00000264661	D	0.96522	-4.04	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.40728	N	0.001028	D	0.91205	0.7229	N	0.25286	0.73	0.54753	D	0.999988	B	0.19706	0.038	B	0.26614	0.071	D	0.86502	0.1804	10	0.07482	T	0.82	.	13.3792	0.60759	0.0:0.0:0.0:1.0	.	509	Q9UQ05	KCNH4_HUMAN	R	509	ENSP00000264661:K509R	ENSP00000264661:K509R	K	-	2	0	KCNH4	37575085	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	6.067000	0.71193	1.744000	0.51775	0.379000	0.24179	AAG		0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		62	320	0	0	0	1	0	62	320				
ITFG3	83986	broad.mit.edu	37	16	304439	304439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:304439C>T	ENST00000399932.3	+	3	478	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACTTAGAGGCCGAAATCCACC	0.493											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(25-27)gcC>gcT		integrin alpha FG-GAP repeat containing 3							157.0	161.0	160.0					16																	304439		1906	4121	6027	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:304439C>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.27C>T	16.37:g.304439C>T			OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	587	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A	p.A9A			Q9H0X4	ITFG3_HUMAN			3	478	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	9					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.27C>T	CCDS10402.1																																																																																				0.493	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		125	1222	0	0	0	1	0	125	1222				
SLC4A10	57282	broad.mit.edu	37	2	162813580	162813580	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162813580G>C	ENST00000446997.1	+	20	2716	c.2623G>C	c.(2623-2625)Gtg>Ctg	p.V875L	SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000375514.5_Missense_Mutation_p.V856L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	875					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GCCATGGTTTGTGGCTGCCAC	0.473																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2566-2568)Gtg>Ctg		solute carrier family 4, sodium bicarbonate transporter, member 10							31.0	36.0	35.0					2																	162813580		2186	4297	6483	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162813580G>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2623G>C	2.37:g.162813580G>C	ENSP00000393066:p.Val875Leu					SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L	p.V856L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			20	2853	+			875					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2566G>C	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168728	0.94768	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.39	5.39	0.77823	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93657	0.6978	10	0.87932	D	0	.	19.1645	0.93548	0.0:0.0:1.0:0.0	.	856;845;875	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	856;845;845;844;875;875;874	ENSP00000364664:V856L;ENSP00000395797:V845L;ENSP00000272716:V845L;ENSP00000393066:V875L;ENSP00000404486:V875L	ENSP00000272716:V845L	V	+	1	0	SLC4A10	162521826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.506000	0.84524	0.655000	0.94253	GTG		0.473	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		8	129	0	0	0	1	0	8	129				
HLA-DPA1	3113	broad.mit.edu	37	6	33037542	33037542	+	Missense_Mutation	SNP	C	C	A	rs72558171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33037542C>A	ENST00000419277.1	-	3	351	c.222G>T	c.(220-222)tgG>tgT	p.W74C	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	74	Alpha-1.		W -> C (in allele DPA1*01:10; dbSNP:rs72558171).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCTCCAGATGCCAGACGGTCT	0.468																																						ENST00000419277.1																			0				kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						c.(220-222)tgG>tgT		major histocompatibility complex, class II, DP alpha 1							76.0	93.0	87.0					6																	33037542		1511	2708	4219	SO:0001583	missense	3113				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:33037542C>A	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.222G>T	6.37:g.33037542C>A	ENSP00000393566:p.Trp74Cys					HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C	p.W74C	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN			3	351	-			74		W -> C (in allele DPA1*01:10; dbSNP:rs72558171).	Alpha-1.		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	c.222G>T	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314656	0.40996	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00932	5.53;5.53;5.53	3.0	3.0	0.34707	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.729808	0.12564	U	0.457926	T	0.05135	0.0137	H	0.95470	3.675	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	T	0.01587	-1.1318	10	0.87932	D	0	.	12.1984	0.54311	0.0:1.0:0.0:0.0	.	74	P20036	DPA1_HUMAN	C	74	ENSP00000393566:W74C;ENSP00000402872:W74C;ENSP00000390929:W74C	ENSP00000393566:W74C	W	-	3	0	HLA-DPA1	33145520	0.992000	0.36948	0.319000	0.25293	0.688000	0.40055	2.553000	0.45837	1.601000	0.50113	0.643000	0.83706	TGG		0.468	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		68	201	1	0	1.77791e-30	1	2.08608e-30	68	201				
SLC24A1	9187	broad.mit.edu	37	15	65918300	65918300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65918300C>A	ENST00000261892.6	+	2	2169	c.1882C>A	c.(1882-1884)Ctc>Atc	p.L628I	SLC24A1_ENST00000544319.2_Missense_Mutation_p.L628I|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000399033.4_Missense_Mutation_p.L628I|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L628I	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	628					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTAGAAGACCTCAGCAAGGT	0.522																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1882-1884)Ctc>Atc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							82.0	79.0	80.0					15																	65918300		2017	4184	6201	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918300C>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1882C>A	15.37:g.65918300C>A	ENSP00000261892:p.Leu628Ile					SLC24A1_ENST00000339868.6_Missense_Mutation_p.L628I|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L628I|SLC24A1_ENST00000399033.4_Missense_Mutation_p.L628I|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L628I	p.L628I	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2169	+			628					O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.1882C>A	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957923	0.53400	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.69306	0.01;-0.37;-0.21;0.11;-0.39;-0.21	5.53	1.53	0.23141	.	0.867616	0.10298	N	0.691508	T	0.65354	0.2683	M	0.73598	2.24	0.21386	N	0.999701	P;B;B;P;P	0.46912	0.583;0.447;0.447;0.886;0.885	B;B;B;B;B	0.44163	0.14;0.066;0.066;0.425;0.443	T	0.53337	-0.8453	10	0.38643	T	0.18	.	6.1408	0.20259	0.1316:0.6591:0.0:0.2094	.	628;628;628;628;628	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	I	628	ENSP00000439693:L628I;ENSP00000261892:L628I;ENSP00000341837:L628I;ENSP00000445163:L628I;ENSP00000381991:L628I;ENSP00000439190:L628I	ENSP00000261892:L628I	L	+	1	0	SLC24A1	63705354	0.989000	0.36119	0.744000	0.31058	0.611000	0.37282	0.712000	0.25779	0.137000	0.18759	0.655000	0.94253	CTC		0.522	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		74	346	1	0	4.01556e-35	1	4.78946e-35	74	346				
ITGB5	3693	broad.mit.edu	37	3	124536539	124536539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124536539G>A	ENST00000296181.4	-	8	1353	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	353	VWFA.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GTTGTTCCAGGTATCAGGGCT	0.383																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(1057-1059)Cct>Tct		integrin, beta 5							72.0	76.0	75.0					3																	124536539		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124536539G>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1057C>T	3.37:g.124536539G>A	ENSP00000296181:p.Pro353Ser					ITGB5_ENST00000488466.1_Intron	p.P353S	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	8	1353	-			353			VWFA.		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1057C>T	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967283	0.92855	.	.	ENSG00000082781	ENST00000296181	D	0.97598	-4.45	5.91	5.91	0.95273	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.057286	0.64402	D	0.000001	D	0.98353	0.9453	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98908	1.0779	10	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	353	P18084	ITB5_HUMAN	S	353	ENSP00000296181:P353S	ENSP00000296181:P353S	P	-	1	0	ITGB5	126019229	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.693000	0.98684	2.813000	0.96785	0.655000	0.94253	CCT		0.383	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		40	210	0	0	0	1	0	40	210				
CNGB1	1258	broad.mit.edu	37	16	57918346	57918346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57918346C>A	ENST00000251102.8	-	33	3538	c.3478G>T	c.(3478-3480)Gac>Tac	p.D1160Y	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1154Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1160					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCCTTGACGTCTTGCGAGCTC	0.672																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3460-3462)Gac>Tac		cyclic nucleotide gated channel beta 1							25.0	26.0	26.0					16																	57918346		2000	4180	6180	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918346C>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3478G>T	16.37:g.57918346C>A	ENSP00000251102:p.Asp1160Tyr					CNGB1_ENST00000251102.8_Missense_Mutation_p.D1160Y	p.D1154Y			Q14028	CNGB1_HUMAN			33	3520	-			1160					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3460G>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302802	0.23736	.	.	ENSG00000070729	ENST00000251102	D	0.96685	-4.09	3.93	2.98	0.34508	.	0.806464	0.11325	N	0.575614	D	0.95414	0.8511	L	0.44542	1.39	0.20703	N	0.999867	D;P	0.54207	0.965;0.94	P;P	0.54312	0.748;0.564	D	0.88986	0.3411	10	0.72032	D	0.01	.	7.4308	0.27126	0.0:0.8823:0.0:0.1177	.	532;1160	Q14028-2;Q14028	.;CNGB1_HUMAN	Y	1160	ENSP00000251102:D1160Y	ENSP00000251102:D1160Y	D	-	1	0	CNGB1	56475847	0.004000	0.15560	0.007000	0.13788	0.134000	0.20937	1.662000	0.37418	1.233000	0.43693	0.655000	0.94253	GAC		0.672	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		52	245	1	0	1.19403e-26	1	1.3775e-26	52	245				
ZBED4	9889	broad.mit.edu	37	22	50278993	50278993	+	Silent	SNP	G	G	A	rs138599627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50278993G>A	ENST00000216268.5	+	2	2160	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	561						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAAAGACCTCGAAGCTGTGGA	0.463																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1681-1683)tcG>tcA		zinc finger, BED-type containing 4		G		1,4405	2.1+/-5.4	0,1,2202	72.0	79.0	77.0		1683	-8.3	0.7	22	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ZBED4	NM_014838.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		561/1172	50278993	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278993G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1683G>A	22.37:g.50278993G>A							p.S561S	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2160	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	561					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.1683G>A	CCDS33677.1																																																																																				0.463	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		15	676	0	0	0	1	0	15	676				
KIAA1244	57221	broad.mit.edu	37	6	138656314	138656314	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656314G>A	ENST00000251691.4	+	33	6497	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACGCAGAAGCACAGATCCA	0.647																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(6331-6333)Gca>Aca		KIAA1244							12.0	13.0	13.0					6																	138656314		2201	4295	6496	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138656314G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6331G>A	6.37:g.138656314G>A	ENSP00000251691:p.Ala2111Thr						p.A2111T	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	6497	+	Breast(32;0.135)		2111						Missense_Mutation	SNP	ENST00000251691.4	37	c.6331G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377621	0.82682	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.21932	1.98	5.76	4.89	0.63831	.	0.280376	0.40469	N	0.001093	T	0.09069	0.0224	L	0.32530	0.975	0.50039	D	0.99984	B	0.18461	0.028	B	0.12837	0.008	T	0.04128	-1.0975	10	0.56958	D	0.05	-16.5692	14.6602	0.68865	0.0698:0.0:0.9302:0.0	.	2111	Q5TH69	BIG3_HUMAN	T	2111;152	ENSP00000251691:A2111T	ENSP00000251691:A2111T	A	+	1	0	KIAA1244	138698007	1.000000	0.71417	0.018000	0.16275	0.978000	0.69477	9.181000	0.94874	1.439000	0.47511	0.511000	0.50034	GCA		0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		7	50	0	0	0	1	0	7	50				
TRPV1	7442	broad.mit.edu	37	17	3486644	3486644	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3486644G>T	ENST00000571088.1	-	9	1677	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L	TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|TRPV1_ENST00000174621.6_Missense_Mutation_p.F486L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F428L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	488					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCGGAAAAAGAAGTAGACTC	0.433																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1456-1458)ttC>ttA		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						61.0	58.0	59.0					17																	3486644		1951	4142	6093	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3486644G>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1464C>A	17.37:g.3486644G>T	ENSP00000461007:p.Phe488Leu					TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F428L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|TRPV1_ENST00000571088.1_Missense_Mutation_p.F488L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L	p.F486L			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	8	1747	-			488					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.1458C>A	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411757	0.25465	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.17	-0.805	0.10879	.	0.046853	0.85682	D	0.000000	D	0.87529	0.6200	L	0.43923	1.385	0.54753	D	0.999989	B;B;B;B	0.19200	0.002;0.034;0.017;0.018	B;B;B;B	0.18561	0.02;0.022;0.019;0.015	T	0.75628	-0.3252	10	0.21540	T	0.41	-13.2472	10.7786	0.46365	0.4285:0.0:0.5715:0.0	.	488;486;428;499	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	L	488;488;486;499;428	ENSP00000382661:F488L;ENSP00000382659:F488L;ENSP00000174621:F486L;ENSP00000409627:F499L;ENSP00000311692:F428L	ENSP00000174621:F486L	F	-	3	2	TRPV1	3433393	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.302000	0.33459	-0.007000	0.14345	-0.302000	0.09304	TTC		0.433	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		15	55	1	0	1.67942e-08	1	1.75525e-08	15	55				
KLHL14	57565	broad.mit.edu	37	18	30321972	30321972	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30321972G>T	ENST00000359358.4	-	3	1426	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	330						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGAGGCAGCCCTCCAACC	0.418																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(988-990)Ctg>Atg		kelch-like family member 14							95.0	89.0	91.0					18																	30321972		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30321972G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.988C>A	18.37:g.30321972G>T	ENSP00000352314:p.Leu330Met					KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	p.L330M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			3	1426	-			330					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.988C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834539	0.32421	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76839	-0.29;-1.05	6.11	1.37	0.22104	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.68943	0.3056	N	0.03983	-0.305	0.37945	D	0.932459	D	0.65815	0.995	D	0.72982	0.979	T	0.68861	-0.5297	10	0.33940	T	0.23	.	9.2446	0.37518	0.7086:0.0:0.2914:0.0	.	330	Q9P2G3	KLH14_HUMAN	M	330	ENSP00000352314:L330M;ENSP00000350808:L330M	ENSP00000350808:L330M	L	-	1	2	KLHL14	28575970	0.004000	0.15560	0.760000	0.31359	0.997000	0.91878	0.097000	0.15168	0.569000	0.29329	0.655000	0.94253	CTG		0.418	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			29	166	1	0	4.3181e-19	1	4.80867e-19	29	166				
SRR	63826	broad.mit.edu	37	17	2224884	2224884	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2224884C>A	ENST00000344595.5	+	6	886	c.568C>A	c.(568-570)Ctt>Att	p.L190I	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	190					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	AGGAGGAATGCTTGCTGGAAT	0.388																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(568-570)Ctt>Att		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						106.0	101.0	103.0					17																	2224884		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2224884C>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.568C>A	17.37:g.2224884C>A	ENSP00000339435:p.Leu190Ile					SRR_ENST00000576848.1_Intron	p.L190I	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	6	886	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	190					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.568C>A	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	c	2.749	-0.260449	0.05791	.	.	ENSG00000167720	ENST00000344595	D	0.96396	-4.0	5.95	-4.59	0.03400	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.777035	0.12313	N	0.479999	D	0.83917	0.5358	N	0.03194	-0.395	0.20638	N	0.999872	B	0.02656	0.0	B	0.14578	0.011	T	0.78357	-0.2235	10	0.02654	T	1	1.469	7.3126	0.26483	0.401:0.2808:0.3182:0.0	.	190	Q9GZT4	SRR_HUMAN	I	190	ENSP00000339435:L190I	ENSP00000339435:L190I	L	+	1	0	SRR	2171634	0.167000	0.22975	0.866000	0.34008	0.944000	0.59088	-0.865000	0.04250	-0.596000	0.05821	-2.134000	0.00341	CTT		0.388	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		48	258	1	0	5.22555e-25	1	5.98653e-25	48	258				
N4BP2	55728	broad.mit.edu	37	4	40103869	40103869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40103869A>G	ENST00000261435.6	+	4	820	c.404A>G	c.(403-405)gAc>gGc	p.D135G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	135					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCATTTTTGGACATGCAGCTA	0.373																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(403-405)gAc>gGc		NEDD4 binding protein 2							94.0	91.0	92.0					4																	40103869		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40103869A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.404A>G	4.37:g.40103869A>G	ENSP00000261435:p.Asp135Gly						p.D135G	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			4	820	+			135					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.404A>G	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541654	0.65085	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80304	-1.36;-1.36	6.08	6.08	0.98989	.	0.549948	0.19174	N	0.120868	T	0.73450	0.3588	L	0.32530	0.975	0.29809	N	0.831763	B;B	0.27997	0.197;0.125	B;B	0.32533	0.147;0.07	T	0.72656	-0.4227	10	0.66056	D	0.02	-8.8579	10.3186	0.43751	0.9245:0.0:0.0755:0.0	.	135;135	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	135;55;55	ENSP00000261435:D135G;ENSP00000422057:D55G	ENSP00000261435:D135G	D	+	2	0	N4BP2	39780264	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	3.636000	0.54317	2.333000	0.79357	0.482000	0.46254	GAC		0.373	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		103	459	0	0	0	1	0	103	459				
DET1	55070	broad.mit.edu	37	15	89073957	89073957	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89073957C>T	ENST00000268148.8	-	2	1125	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000564406.1_Missense_Mutation_p.R338Q|DET1_ENST00000444300.1_Missense_Mutation_p.R338Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	327						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCGCAGCTGCCGCAGTTGGTC	0.493																																						ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1012-1014)cGg>cAg		de-etiolated homolog 1 (Arabidopsis)							43.0	46.0	45.0					15																	89073957		1932	4124	6056	SO:0001583	missense	55070					nucleus		g.chr15:89073957C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.980G>A	15.37:g.89073957C>T	ENSP00000268148:p.Arg327Gln					DET1_ENST00000268148.8_Missense_Mutation_p.R327Q|DET1_ENST00000444300.1_Missense_Mutation_p.R338Q	p.R338Q	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	1173	-	Lung NSC(78;0.105)|all_lung(78;0.182)		327					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1013G>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991526	0.35131	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.65	4.71	0.59529	.	0.048971	0.85682	N	0.000000	T	0.57007	0.2024	L	0.58101	1.795	0.58432	D	0.999997	B;B	0.19817	0.039;0.039	B;B	0.19946	0.016;0.027	T	0.53669	-0.8406	9	0.13470	T	0.59	-28.4679	15.0509	0.71867	0.1428:0.8572:0.0:0.0	.	327;338	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	338;327	.	ENSP00000268148:R327Q	R	-	2	0	DET1	86874961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.277000	0.58939	1.584000	0.49913	0.655000	0.94253	CGG		0.493	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		35	123	0	0	0	1	0	35	123				
BIVM	54841	broad.mit.edu	37	13	103468879	103468879	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103468879C>T	ENST00000257336.1	+	4	1259	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	BIVM_ENST00000419638.1_Missense_Mutation_p.R194W|BIVM_ENST00000448849.2_5'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.A165V	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	194						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATTAAACAGCGGAAAGTATT	0.323																																						ENST00000602836.1																			0											c.(493-495)gCg>gTg									123.0	122.0	123.0					13																	103468879		2203	4299	6502	SO:0001583	missense	0				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103468879C>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.580C>T	13.37:g.103468879C>T	ENSP00000257336:p.Arg194Trp					BIVM_ENST00000448849.2_5'UTR|BIVM_ENST00000257336.1_Missense_Mutation_p.R194W|BIVM_ENST00000419638.1_Missense_Mutation_p.R194W	p.A165V	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			2	494	+			0					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.494C>T	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624684	0.66901	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.88	2.11	0.27256	.	0.294049	0.34110	N	0.004242	T	0.75317	0.3833	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.991;0.992	T	0.75127	-0.3427	9	0.87932	D	0	.	11.9705	0.53062	0.4935:0.4042:0.1023:0.0	.	165;194	Q59FZ7;Q86UB2	.;BIVM_HUMAN	W	194;194;165	.	ENSP00000257336:R194W	R	+	1	2	ERCC5;BIVM	102266880	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	2.263000	0.43293	0.073000	0.16731	-0.284000	0.09977	CGG		0.323	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			14	450	0	0	0	1	0	14	450				
ZWINT	11130	broad.mit.edu	37	10	58118706	58118706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118706C>T	ENST00000373944.3	-	6	521	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZWINT_ENST00000318387.2_Silent_p.E41E|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000361148.6_Silent_p.E161E			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	161					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGATGCTTCTCCTGCCAGG	0.542																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(481-483)gaG>gaA		ZW10 interacting kinetochore protein							64.0	62.0	63.0					10																	58118706		2203	4300	6503	SO:0001819	synonymous_variant	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118706C>T	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.483G>A	10.37:g.58118706C>T						ZWINT_ENST00000318387.2_Silent_p.E41E|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000361148.6_Silent_p.E161E	p.E161E			O95229	ZWINT_HUMAN			6	521	-			161					A6NNV6|Q0D2I3|Q9BWD0	Silent	SNP	ENST00000373944.3	37	c.483G>A	CCDS7249.1																																																																																				0.542	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			67	337	0	0	0	1	0	67	337				
IMPACT	55364	broad.mit.edu	37	18	22029853	22029853	+	Missense_Mutation	SNP	G	G	A	rs542157006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22029853G>A	ENST00000284202.4	+	10	971	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	277					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGACCAGATCGCTTTAAACAT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001					ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(829-831)cGc>cAc		impact RWD domain protein							133.0	117.0	122.0					18																	22029853		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22029853G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.830G>A	18.37:g.22029853G>A	ENSP00000284202:p.Arg277His						p.R277H	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			10	971	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		277					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.830G>A	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574473	0.65878	.	.	ENSG00000154059	ENST00000284202	T	0.64260	-0.09	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.92507	3.315	0.80722	D	1	D	0.60160	0.987	P	0.49085	0.6	D	0.84239	0.0471	10	0.87932	D	0	.	19.1136	0.93328	0.0:0.0:1.0:0.0	.	277	Q9P2X3	IMPCT_HUMAN	H	277	ENSP00000284202:R277H	ENSP00000284202:R277H	R	+	2	0	IMPACT	20283851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.250000	0.95477	2.810000	0.96702	0.655000	0.94253	CGC		0.378	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		73	313	0	0	0	1	0	73	313				
ZNF492	57615	broad.mit.edu	37	19	22847667	22847667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847667G>A	ENST00000456783.2	+	4	1440	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GAAGAATGTGGCAAAGCTTTT	0.383																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1195-1197)gGc>gAc		zinc finger protein 492							48.0	51.0	50.0					19																	22847667		2147	4262	6409	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847667G>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1196G>A	19.37:g.22847667G>A	ENSP00000413660:p.Gly399Asp						p.G399D	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1440	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	399					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1196G>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	14.75	2.628231	0.46944	.	.	ENSG00000229676	ENST00000456783	T	0.01430	4.9	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	L	0.45051	1.395	0.38026	D	0.935016	D	0.89917	1.0	D	0.97110	1.0	T	0.50759	-0.8790	9	0.66056	D	0.02	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	399	Q9P255	ZN492_HUMAN	D	399	ENSP00000413660:G399D	ENSP00000413660:G399D	G	+	2	0	ZNF492	22639507	0.988000	0.35896	0.076000	0.20297	0.077000	0.17291	2.129000	0.42055	0.269000	0.21961	0.274000	0.19336	GGC		0.383	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		38	295	0	0	0	1	0	38	295				
NUP153	9972	broad.mit.edu	37	6	17626368	17626368	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17626368C>G	ENST00000262077.2	-	19	3571	c.3572G>C	c.(3571-3573)aGt>aCt	p.S1191T	NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1191					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCAAGAAACTAAAAACTGG	0.413																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3571-3573)aGt>aCt		nucleoporin 153kDa							43.0	45.0	45.0					6																	17626368		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17626368C>G	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3572G>C	6.37:g.17626368C>G	ENSP00000262077:p.Ser1191Thr					NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	p.S1191T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		19	3571	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1191					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.3572G>C	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021807	0.35701	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.14516	2.55;2.5	5.39	-1.33	0.09172	.	0.331489	0.25753	N	0.028540	T	0.07007	0.0178	M	0.72894	2.215	0.39995	D	0.975091	P;B;P	0.42078	0.607;0.397;0.77	B;B;B	0.39590	0.304;0.146;0.219	T	0.17623	-1.0363	10	0.38643	T	0.18	-2.401	10.9874	0.47530	0.0:0.558:0.0:0.442	.	1222;1171;1191	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	T	1191;1171;1222	ENSP00000262077:S1191T;ENSP00000444029:S1222T	ENSP00000262077:S1191T	S	-	2	0	NUP153	17734347	0.979000	0.34478	0.957000	0.39632	0.861000	0.49209	0.010000	0.13242	-0.197000	0.10350	-0.244000	0.11960	AGT		0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			41	172	0	0	0	1	0	41	172				
CCDC28A	25901	broad.mit.edu	37	6	139097399	139097399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139097399C>T	ENST00000332797.6	+	2	567	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	138										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AACTTCACAGCGACCAAAGTT	0.358																																						ENST00000332797.6																			0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(412-414)Cga>Tga		coiled-coil domain containing 28A							94.0	88.0	90.0					6																	139097399		2203	4300	6503	SO:0001587	stop_gained	25901							g.chr6:139097399C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.412C>T	6.37:g.139097399C>T	ENSP00000332716:p.Arg138*						p.R138*	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	567	+			138					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Nonsense_Mutation	SNP	ENST00000332797.6	37	c.412C>T	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	C	37	6.371234	0.97511	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	.	.	.	5.79	-0.143	0.13444	.	0.280729	0.39020	N	0.001490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6938	17.2014	0.86907	0.8113:0.1887:0.0:0.0	.	.	.	.	X	138;25	.	ENSP00000026464:R25X	R	+	1	2	CCDC28A	139139092	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	1.706000	0.37878	0.033000	0.15463	0.561000	0.74099	CGA		0.358	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		11	388	0	0	0	1	0	11	388				
TCTN1	79600	broad.mit.edu	37	12	111078889	111078889	+	Missense_Mutation	SNP	G	G	A	rs199967338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111078889G>A	ENST00000551590.1	+	9	1195	c.1039G>A	c.(1039-1041)Gtt>Att	p.V347I	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I|TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I			Q2MV58	TECT1_HUMAN	tectonic family member 1	347					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTCTCATTCGTTCTGGGGAC	0.388																																						ENST00000551590.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						c.(1039-1041)Gtt>Att		tectonic family member 1							163.0	156.0	158.0					12																	111078889		1957	4144	6101	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111078889G>A	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1039G>A	12.37:g.111078889G>A	ENSP00000448735:p.Val347Ile					HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I|TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I	p.V347I			Q2MV58	TECT1_HUMAN			9	1195	+			347					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.1039G>A	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989356	0.74589	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.87	3.98	0.46160	Domain of unknown function DUF1619 (1);	0.346611	0.30483	N	0.009533	T	0.72692	0.3492	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B	0.29862	0.259;0.097;0.097;0.226;0.118	B;B;B;B;B	0.29524	0.103;0.02;0.02;0.047;0.034	T	0.56300	-0.8002	10	0.26408	T	0.33	-17.4742	13.4685	0.61270	0.1086:0.3326:0.5588:0.0	.	347;333;347;287;291	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	I	287;347;333;169;169;347;291	ENSP00000448735:V347I;ENSP00000380775:V333I;ENSP00000366882:V169I;ENSP00000380779:V347I	ENSP00000366882:V169I	V	+	1	0	TCTN1	109563272	0.990000	0.36364	0.067000	0.19924	0.311000	0.27955	1.586000	0.36611	0.358000	0.24211	-0.120000	0.15030	GTT		0.388	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		124	589	0	0	0	1	0	124	589				
SPSB3	90864	broad.mit.edu	37	16	1827164	1827164	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827164C>T	ENST00000566339.1	-	7	1332	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SPSB3_ENST00000301717.4_Silent_p.A334A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	334					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGGCGGAGGTCGCTGCCTGGG	0.677																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(1000-1002)gcG>gcA		splA/ryanodine receptor domain and SOCS box containing 3							37.0	37.0	37.0					16																	1827164		2197	4291	6488	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1827164C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.1002G>A	16.37:g.1827164C>T						SPSB3_ENST00000301717.4_Silent_p.A334A	p.A334A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			7	1332	-			334					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.1002G>A	CCDS32365.1																																																																																				0.677	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		33	408	0	0	0	1	0	33	408				
HEATR2	54919	broad.mit.edu	37	7	796502	796502	+	Silent	SNP	G	G	A	rs200587511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:796502G>A	ENST00000297440.6	+	6	1361	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	HEATR2_ENST00000313147.5_Silent_p.T447T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	447						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGAAGAAGACGCCCTCTGCCT	0.622																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1339-1341)acG>acA		HEAT repeat containing 2							83.0	85.0	85.0					7																	796502		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:796502G>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1341G>A	7.37:g.796502G>A						HEATR2_ENST00000313147.5_Silent_p.T447T	p.T447T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	6	1361	+		Ovarian(82;0.0112)	447					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.1341G>A	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906673	0.02434	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.49	-11.0	0.00169	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.21325	N	0.99972	.	.	.	.	.	.	T	0.17745	-1.0359	4	.	.	.	-5.2294	8.587	0.33664	0.6847:0.0758:0.088:0.1516	.	.	.	.	T	249	.	.	A	+	1	0	HEATR2	763028	0.006000	0.16342	0.000000	0.03702	0.014000	0.08584	-0.928000	0.03980	-2.750000	0.00375	-0.749000	0.03505	GCC		0.622	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		81	393	0	0	0	1	0	81	393				
EIF2B3	8891	broad.mit.edu	37	1	45340395	45340395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45340395G>A	ENST00000360403.2	-	10	1283	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	386					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ATTGGTAATAGTCACTCTATC	0.453																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17						c.(1156-1158)aCt>aTt		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa							176.0	164.0	168.0					1																	45340395		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45340395G>A	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1157C>T	1.37:g.45340395G>A	ENSP00000353575:p.Thr386Ile					EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN			10	1283	-	Acute lymphoblastic leukemia(166;0.155)		386					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.1157C>T	CCDS517.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863932	0.51482	.	.	ENSG00000070785	ENST00000360403;ENST00000372183	T;D	0.93906	0.53;-3.31	5.52	3.46	0.39613	.	0.392077	0.30126	N	0.010343	D	0.89860	0.6837	L	0.42008	1.315	0.27819	N	0.941852	B;B;B	0.22541	0.001;0.071;0.001	B;B;B	0.27608	0.009;0.081;0.004	D	0.83820	0.0246	10	0.46703	T	0.11	-0.8284	11.9317	0.52849	0.0:0.0:0.4066:0.5933	.	386;386;386	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	I	386	ENSP00000353575:T386I;ENSP00000361257:T386I	ENSP00000353575:T386I	T	-	2	0	EIF2B3	45112982	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.955000	0.56715	1.312000	0.45043	0.655000	0.94253	ACT		0.453	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		17	472	0	0	0	1	0	17	472				
MTMR11	10903	broad.mit.edu	37	1	149906095	149906095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149906095G>A	ENST00000439741.2	-	7	922	c.672C>T	c.(670-672)gaC>gaT	p.D224D	MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000369140.3_Silent_p.D152D|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.D224D	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	224	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGTGGCTACGTCGAACCTCT	0.572																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(670-672)gaC>gaT		myotubularin related protein 11							101.0	97.0	99.0					1																	149906095		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149906095G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.672C>T	1.37:g.149906095G>A						MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000361405.6_Silent_p.D224D|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.D152D	p.D224D	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		7	922	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		224			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.672C>T	CCDS53360.1																																																																																				0.572	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		120	539	0	0	0	1	0	120	539				
TXN	7295	broad.mit.edu	37	9	113006460	113006460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113006460C>A	ENST00000374517.5	-	5	499	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Missense_Mutation_p.A79S	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	99	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		TTAATGGTGGCTTCAAGCTTT	0.289																																						ENST00000374517.5																			0				kidney(1)|skin(1)	2						c.(295-297)Gcc>Tcc		thioredoxin							36.0	34.0	35.0					9																	113006460		2202	4295	6497	SO:0001583	missense	7295				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:113006460C>A	X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.295G>T	9.37:g.113006460C>A	ENSP00000363641:p.Ala99Ser					TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Missense_Mutation_p.A79S	p.A99S	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)	5	499	-			99			Thioredoxin.		B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Missense_Mutation	SNP	ENST00000374517.5	37	c.295G>T	CCDS35103.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381254	0.24944	.	.	ENSG00000136810	ENST00000374517;ENST00000374515	T;T	0.22336	3.95;1.96	5.45	3.39	0.38822	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.216640	0.36519	N	0.002548	T	0.14830	0.0358	N	0.25825	0.765	0.29885	N	0.825726	B;B	0.17667	0.023;0.023	B;B	0.27796	0.083;0.051	T	0.16129	-1.0413	10	0.16420	T	0.52	-2.3374	11.7284	0.51722	0.3316:0.6684:0.0:0.0	.	79;99	B1ALW1;P10599	.;THIO_HUMAN	S	99;79	ENSP00000363641:A99S;ENSP00000363639:A79S	ENSP00000363639:A79S	A	-	1	0	TXN	112046281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.354000	0.44098	1.266000	0.44231	0.655000	0.94253	GCC		0.289	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1			35	102	1	0	4.32679e-17	1	4.76816e-17	35	102				
NCAN	1463	broad.mit.edu	37	19	19339148	19339148	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19339148A>G	ENST00000252575.6	+	8	2818	c.2719A>G	c.(2719-2721)Acc>Gcc	p.T907A	NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	907					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TCAGGTGGAGACCCAGGGAAC	0.622																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(2719-2721)Acc>Gcc		neurocan							86.0	88.0	87.0					19																	19339148		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339148A>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2719A>G	19.37:g.19339148A>G	ENSP00000252575:p.Thr907Ala					NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	p.T907A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2762	+			907					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2719A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	7.693	0.691540	0.15039	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84516	-1.71;-1.86	3.49	-0.261	0.12963	.	0.996046	0.08127	N	0.993839	T	0.66366	0.2782	N	0.12746	0.255	0.09310	N	1	B;B	0.17852	0.024;0.0	B;B	0.08055	0.003;0.001	T	0.51252	-0.8729	10	0.07175	T	0.84	.	5.8932	0.18925	0.5843:0.0:0.4157:0.0	.	921;907	Q4LE67;O14594	.;NCAN_HUMAN	A	921;907;358	ENSP00000252575:T907A;ENSP00000442202:T358A	ENSP00000252575:T907A	T	+	1	0	NCAN	19200148	0.003000	0.15002	0.335000	0.25508	0.385000	0.30292	0.082000	0.14847	-0.038000	0.13624	-0.415000	0.06103	ACC		0.622	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		20	621	0	0	0	1	0	20	621				
DNAH9	1770	broad.mit.edu	37	17	11711199	11711199	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11711199C>A	ENST00000262442.4	+	44	8639	c.8571C>A	c.(8569-8571)atC>atA	p.I2857I	DNAH9_ENST00000454412.2_Silent_p.I2857I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2857	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTACCAGATCCAGGACTTCA	0.557																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8569-8571)atC>atA		dynein, axonemal, heavy chain 9							57.0	51.0	53.0					17																	11711199		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11711199C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8571C>A	17.37:g.11711199C>A						DNAH9_ENST00000454412.2_Silent_p.I2857I	p.I2857I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	44	8639	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2857			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.8571C>A	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		52	186	1	0	3.68337e-26	1	4.24002e-26	52	186				
REST	5978	broad.mit.edu	37	4	57797303	57797303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57797303C>A	ENST00000309042.7	+	4	2593	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	760	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M753_P768delMEVVQKEPVKIELSPP(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGAAGGAACCTGTTAAGATA	0.557																																						ENST00000309042.7																			1	Deletion - In frame(1)	p.M753_P768delMEVVQKEPVKIELSPP(1)	central_nervous_system(1)	central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2278-2280)cCt>cAt		RE1-silencing transcription factor							255.0	270.0	264.0					4																	57797303		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797303C>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2279C>A	4.37:g.57797303C>A	ENSP00000311816:p.Pro760His						p.P760H	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2593	+	Glioma(25;0.08)|all_neural(26;0.181)		760			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2279C>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442522	0.25987	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08896	3.04	2.6	-0.484	0.12071	.	1.788680	0.03034	N	0.152446	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	D;D	0.61697	0.99;0.983	P;B	0.50192	0.634;0.431	T	0.11155	-1.0599	10	0.27785	T	0.31	0.3888	2.2674	0.04082	0.1999:0.4953:0.1803:0.1245	.	737;760	F8WAN5;Q13127	.;REST_HUMAN	H	760;737	ENSP00000311816:P760H	ENSP00000311816:P760H	P	+	2	0	REST	57492060	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.100000	0.15231	-0.167000	0.10871	-0.479000	0.04858	CCT		0.557	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		48	2084	1	0	2.94398e-08	1	3.0722e-08	48	2084				
MAGI3	260425	broad.mit.edu	37	1	114185035	114185035	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114185035A>C	ENST00000307546.9	+	10	1938	c.1863A>C	c.(1861-1863)gaA>gaC	p.E621D	MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D|MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000369615.1_Missense_Mutation_p.E621D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	646	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTAAGGAAATATACCATC	0.408																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1861-1863)gaA>gaC		membrane associated guanylate kinase, WW and PDZ domain containing 3							99.0	101.0	100.0					1																	114185035		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114185035A>C	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1863A>C	1.37:g.114185035A>C	ENSP00000304604:p.Glu621Asp					MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000307546.9_Missense_Mutation_p.E621D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D	p.E621D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1925	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	646			PDZ 3.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1863A>C	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827074	0.50739	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.47	0.0969	0.14492	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.84948	2.725	0.80722	D	1	B;D;B	0.76494	0.048;0.999;0.092	B;D;B	0.71184	0.088;0.972;0.207	T	0.63368	-0.6653	10	0.87932	D	0	-25.6132	9.6773	0.40047	0.5907:0.0:0.4093:0.0	.	621;621;646	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	D	646;621;621;621	ENSP00000358630:E646D;ENSP00000304604:E621D;ENSP00000358628:E621D;ENSP00000358624:E621D	ENSP00000304604:E621D	E	+	3	2	MAGI3	113986558	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.656000	0.46716	0.128000	0.18479	0.455000	0.32223	GAA		0.408	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		47	252	0	0	0	1	0	47	252				
WFDC1	58189	broad.mit.edu	37	16	84353108	84353108	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353108C>T	ENST00000219454.5	+	4	819	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	WFDC1_ENST00000568638.1_Silent_p.L165L	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	165					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GTGCCACATCCTGAGCCCAGG	0.667																																						ENST00000219454.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						c.(493-495)Ctg>Ttg		WAP four-disulfide core domain 1							84.0	65.0	72.0					16																	84353108		2200	4300	6500	SO:0001819	synonymous_variant	58189				negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	g.chr16:84353108C>T	AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.493C>T	16.37:g.84353108C>T						WFDC1_ENST00000568638.1_Silent_p.L165L	p.L165L			Q9HC57	WFDC1_HUMAN			4	819	+			165					D3DUL7|Q8NC27|Q9HAU1	Silent	SNP	ENST00000219454.5	37	c.493C>T	CCDS10946.1																																																																																				0.667	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			42	308	0	0	0	1	0	42	308				
FAM161A	84140	broad.mit.edu	37	2	62067278	62067278	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067278A>T	ENST00000405894.3	-	3	962	c.861T>A	c.(859-861)gtT>gtA	p.V287V	FAM161A_ENST00000404929.1_Silent_p.V287V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	287					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGATGCAGGAACTGGATTGG	0.403																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(859-861)gtT>gtA		family with sequence similarity 161, member A							161.0	150.0	153.0					2																	62067278		1843	4090	5933	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62067278A>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.861T>A	2.37:g.62067278A>T						FAM161A_ENST00000405894.3_Silent_p.V287V	p.V287V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	872	-			287					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.861T>A	CCDS42687.2																																																																																				0.403	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		154	780	0	0	0	1	0	154	780				
UNC5C	8633	broad.mit.edu	37	4	96163662	96163662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163662C>T	ENST00000453304.1	-	7	1374	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	UNC5C_ENST00000506749.1_Silent_p.A342A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	342	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGGGCTGGCGCCGTGCACT	0.557																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1024-1026)gcG>gcA		unc-5 homolog C (C. elegans)							49.0	40.0	43.0					4																	96163662		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163662C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1026G>A	4.37:g.96163662C>T						UNC5C_ENST00000506749.1_Silent_p.A342A	p.A342A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1374	-		Hepatocellular(203;0.114)	342			TSP type-1 2.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1026G>A	CCDS3643.1																																																																																				0.557	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		20	101	0	0	0	1	0	20	101				
BTD	686	broad.mit.edu	37	3	15677047	15677047	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15677047A>G	ENST00000303498.5	+	2	270	c.161A>G	c.(160-162)gAg>gGg	p.E54G	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000383778.4_Missense_Mutation_p.E34G|BTD_ENST00000437172.1_Missense_Mutation_p.E56G|BTD_ENST00000449107.1_Missense_Mutation_p.E56G	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	54					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GACCATCACGAGGCTGAATAT	0.567																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(100-102)gAg>gGg		biotinidase							134.0	124.0	127.0					3																	15677047		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15677047A>G	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.161A>G	3.37:g.15677047A>G	ENSP00000306477:p.Glu54Gly					BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Missense_Mutation_p.E56G|BTD_ENST00000303498.5_Missense_Mutation_p.E54G|BTD_ENST00000437172.1_Missense_Mutation_p.E56G	p.E34G			P43251	BTD_HUMAN			2	459	+			54					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.101A>G	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	A	4.238	0.043137	0.08196	.	.	ENSG00000169814	ENST00000427382;ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D;D	0.95980	-3.87;-2.55;-2.55;-2.56;-2.29;-2.53	3.24	-2.28	0.06826	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.973243	0.08477	N	0.940113	D	0.85221	0.5647	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.73272	-0.4035	10	0.49607	T	0.09	-6.354	0.1601	0.00102	0.3777:0.1765:0.2144:0.2313	.	56;56;54	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	G	34;56;54;56;34;34	ENSP00000397113:E34G;ENSP00000388212:E56G;ENSP00000306477:E54G;ENSP00000400995:E56G;ENSP00000394277:E34G;ENSP00000373288:E34G	ENSP00000306477:E54G	E	+	2	0	BTD	15652051	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.261000	0.18442	-0.453000	0.07076	0.454000	0.30748	GAG		0.567	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		127	537	0	0	0	1	0	127	537				
SHANK1	50944	broad.mit.edu	37	19	51169770	51169770	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51169770A>G	ENST00000293441.1	-	22	5465	c.5447T>C	c.(5446-5448)gTg>gCg	p.V1816A	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A|SHANK1_ENST00000391813.1_Missense_Mutation_p.V1203A|SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1816					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCTACAGCCACCGGACCCCC	0.726																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(5446-5448)gTg>gCg		SH3 and multiple ankyrin repeat domains 1							4.0	5.0	5.0					19																	51169770		2028	4027	6055	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169770A>G	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5447T>C	19.37:g.51169770A>G	ENSP00000293441:p.Val1816Ala					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A|SHANK1_ENST00000391813.1_Missense_Mutation_p.V1203A	p.V1816A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5465	-		all_neural(266;0.057)	1816					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5447T>C	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	A	2.736	-0.263213	0.05754	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.37235	1.33;1.73;1.31;1.21	2.59	0.147	0.14838	.	2.425490	0.03225	U	0.178136	T	0.25531	0.0621	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.09422	-1.0675	10	0.10377	T	0.69	.	3.9956	0.09556	0.4176:0.4464:0.136:0.0	.	1816;1203	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	A	1816;1203;1807;1824	ENSP00000293441:V1816A;ENSP00000375689:V1203A;ENSP00000351984:V1807A;ENSP00000375690:V1824A	ENSP00000293441:V1816A	V	-	2	0	SHANK1	55861582	0.163000	0.22920	0.055000	0.19348	0.589000	0.36550	0.444000	0.21661	-0.171000	0.10797	0.164000	0.16699	GTG		0.726	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		11	54	0	0	0	1	0	11	54				
ZC3H18	124245	broad.mit.edu	37	16	88677771	88677771	+	Silent	SNP	C	C	T	rs545485000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677771C>T	ENST00000301011.5	+	8	1502	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R	ZC3H18_ENST00000452588.2_Silent_p.R458R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	434						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agagggagcgcgagcgagagc	0.711																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1300-1302)cgC>cgT		zinc finger CCCH-type containing 18							21.0	20.0	20.0					16																	88677771		2011	3961	5972	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677771C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1302C>T	16.37:g.88677771C>T						ZC3H18_ENST00000452588.2_Silent_p.R458R	p.R434R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1502	+			434					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1302C>T	CCDS10967.1																																																																																				0.711	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		9	18	0	0	0	1	0	9	18				
ELP3	55140	broad.mit.edu	37	8	27987089	27987089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27987089C>T	ENST00000256398.8	+	8	1065	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*|ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	230					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CTGCATGAAGCGACATTTAAG	0.418																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(688-690)Cga>Tga		elongator acetyltransferase complex subunit 3							204.0	192.0	196.0					8																	27987089		2203	4300	6503	SO:0001587	stop_gained	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27987089C>T		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.688C>T	8.37:g.27987089C>T	ENSP00000256398:p.Arg230*					ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*|ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*	p.R230*	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	8	1065	+		Ovarian(32;0.0218)	230					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Nonsense_Mutation	SNP	ENST00000256398.8	37	c.688C>T	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072355	0.93950	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	.	.	.	4.53	2.53	0.30540	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.7133	11.0472	0.47865	0.3306:0.6694:0.0:0.0	.	.	.	.	X	216;230;101;158;111;138	.	ENSP00000256398:R230X	R	+	1	2	ELP3	28043008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.607000	0.36836	1.213000	0.43380	0.655000	0.94253	CGA		0.418	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		132	500	0	0	0	1	0	132	500				
CRTAC1	55118	broad.mit.edu	37	10	99667810	99667810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99667810G>A	ENST00000370597.3	-	6	1165	c.810C>T	c.(808-810)aaC>aaT	p.N270N	CRTAC1_ENST00000370591.2_Silent_p.N270N|CRTAC1_ENST00000298819.4_Silent_p.N270N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	270						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGCCCCGGTTGTGGAAAA	0.627																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(808-810)aaC>aaT		cartilage acidic protein 1							87.0	67.0	74.0					10																	99667810		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99667810G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.810C>T	10.37:g.99667810G>A						CRTAC1_ENST00000298819.4_Silent_p.N270N|CRTAC1_ENST00000370591.2_Silent_p.N270N	p.N270N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	6	1165	-		Colorectal(252;0.24)	270					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.810C>T	CCDS31266.1																																																																																				0.627	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		14	243	0	0	0	1	0	14	243				
SEMA5B	54437	broad.mit.edu	37	3	122642572	122642572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122642572G>A	ENST00000357599.3	-	10	1550	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_ENST00000195173.4_Silent_p.C388C|SEMA5B_ENST00000451055.2_Silent_p.C442C	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	388	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C388C(1)|p.C442C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTTGAAGGCGCAGACAGCAG	0.592																																						ENST00000195173.4																			2	Substitution - coding silent(2)	p.C388C(1)|p.C442C(1)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1162-1164)tgC>tgT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							106.0	102.0	104.0					3																	122642572		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122642572G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1164C>T	3.37:g.122642572G>A						SEMA5B_ENST00000357599.3_Silent_p.C388C|SEMA5B_ENST00000451055.2_Silent_p.C442C	p.C388C			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	10	1467	-			388			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.1164C>T	CCDS35491.1																																																																																				0.592	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		94	461	0	0	0	1	0	94	461				
BIRC6	57448	broad.mit.edu	37	2	32673919	32673919	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673919G>T	ENST00000421745.2	+	22	4675	c.4541G>T	c.(4540-4542)gGc>gTc	p.G1514V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1514					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGATGAGTGGCTCTTCTTGT	0.338																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(4540-4542)gGc>gTc		baculoviral IAP repeat containing 6							128.0	130.0	129.0					2																	32673919		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32673919G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4541G>T	2.37:g.32673919G>T	ENSP00000393596:p.Gly1514Val						p.G1514V	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			22	4675	+	Acute lymphoblastic leukemia(172;0.155)		1514					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4541G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359955	0.61403	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.61	5.61	0.85477	.	0.132026	0.50627	D	0.000106	T	0.78181	0.4243	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70510	-0.4852	10	0.02654	T	1	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	1514	Q9NR09	BIRC6_HUMAN	V	1514	ENSP00000393596:G1514V	ENSP00000393596:G1514V	G	+	2	0	BIRC6	32527423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	GGC		0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		18	332	1	0	1.2644e-06	1	1.30616e-06	18	332				
DNAH7	56171	broad.mit.edu	37	2	196746672	196746672	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746672A>G	ENST00000312428.6	-	36	5908	c.5808T>C	c.(5806-5808)gcT>gcC	p.A1936A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1936					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATTGGAGGAGCTTCTTTCA	0.333																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(5806-5808)gcT>gcC		dynein, axonemal, heavy chain 7							119.0	111.0	114.0					2																	196746672		1829	4077	5906	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196746672A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5808T>C	2.37:g.196746672A>G							p.A1936A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			36	5908	-			1936					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.5808T>C	CCDS42794.1																																																																																				0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		44	288	0	0	0	1	0	44	288				
TMC4	147798	broad.mit.edu	37	19	54669172	54669172	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54669172A>G	ENST00000376591.4	-	6	1075	c.944T>C	c.(943-945)aTc>aCc	p.I315T	TMC4_ENST00000476013.2_Intron|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.I309T	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	315					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTACAAGATGATGCGCTGGCG	0.627																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(943-945)aTc>aCc		transmembrane channel-like 4							45.0	34.0	38.0					19																	54669172		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54669172A>G	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.944T>C	19.37:g.54669172A>G	ENSP00000365776:p.Ile315Thr					TMC4_ENST00000301187.4_Missense_Mutation_p.I309T|TMC4_ENST00000476013.2_Intron	p.I315T	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			6	1075	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		315					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.944T>C	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	A	7.863	0.726483	0.15439	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.48836	0.8;0.8	4.8	-9.6	0.00553	.	1.465370	0.03977	N	0.292608	T	0.22166	0.0534	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.004;0.007	T	0.11743	-1.0575	10	0.32370	T	0.25	1.9022	3.5511	0.07847	0.1261:0.1019:0.1674:0.6046	.	315;309	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	T	309;315	ENSP00000301187:I309T;ENSP00000365776:I315T	ENSP00000301187:I309T	I	-	2	0	TMC4	59360984	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-3.812000	0.00360	-2.500000	0.00511	0.529000	0.55759	ATC		0.627	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			21	104	0	0	0	1	0	21	104				
LMO7	4008	broad.mit.edu	37	13	76429476	76429476	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76429476G>A	ENST00000321797.8	+	27	4764	c.4043G>A	c.(4042-4044)gGt>gAt	p.G1348D	LMO7_ENST00000357063.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000341547.4_Missense_Mutation_p.G1299D			Q8WWI1	LMO7_HUMAN	LIM domain 7	1633					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGTCCCTGGGTCTTTGTTAT	0.493																																						ENST00000341547.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3895-3897)gGt>gAt		LIM domain 7							146.0	121.0	129.0					13																	76429476		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76429476G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.4043G>A	13.37:g.76429476G>A	ENSP00000317802:p.Gly1348Asp					LMO7_ENST00000357063.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.G1348D	p.G1299D	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	28	5156	+		Breast(118;0.0992)	1633					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.3896G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.117643	0.94385	.	.	ENSG00000136153	ENST00000341547;ENST00000321797;ENST00000526202	D;D;D	0.87256	-2.23;-2.23;-2.23	5.99	5.99	0.97316	.	0.159223	0.56097	D	0.000033	D	0.92811	0.7714	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92382	0.5914	10	0.66056	D	0.02	-23.5131	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1225;1299	E9PMS6;Q8WWI1-3	.;.	D	1299;1348;1225	ENSP00000342112:G1299D;ENSP00000317802:G1348D;ENSP00000431129:G1225D	ENSP00000317802:G1348D	G	+	2	0	LMO7	75327477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GGT		0.493	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		31	144	0	0	0	1	0	31	144				
LMAN2	10960	broad.mit.edu	37	5	176778195	176778195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176778195C>T	ENST00000303127.7	-	2	498	c.294G>A	c.(292-294)gaG>gaA	p.E98E	LMAN2_ENST00000515209.1_Silent_p.E98E|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	98	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATAGAGCCCTCTTTGCTGC	0.607																																						ENST00000303127.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(292-294)gaG>gaA		lectin, mannose-binding 2							132.0	122.0	125.0					5																	176778195		2203	4300	6503	SO:0001819	synonymous_variant	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176778195C>T	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.294G>A	5.37:g.176778195C>T						LMAN2_ENST00000515209.1_Silent_p.E98E|LMAN2_ENST00000506310.1_5'UTR	p.E98E	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	498	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	98			L-type lectin-like.		Q53HH1	Silent	SNP	ENST00000303127.7	37	c.294G>A	CCDS4417.1																																																																																				0.607	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		77	742	0	0	0	1	0	77	742				
SGTA	6449	broad.mit.edu	37	19	2769007	2769007	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2769007C>T	ENST00000221566.2	-	2	221	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	20					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCCGTGCCGGAGCTGGT	0.627																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(58-60)cgG>cgA		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							75.0	81.0	79.0					19																	2769007		2203	4300	6503	SO:0001819	synonymous_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2769007C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.60G>A	19.37:g.2769007C>T							p.R20R	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	221	-		Hepatocellular(1079;0.137)	20					D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	c.60G>A	CCDS12094.1																																																																																				0.627	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		79	366	0	0	0	1	0	79	366				
OR8K5	219453	broad.mit.edu	37	11	55927041	55927041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927041G>T	ENST00000313447.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGACCCATAGAACACAACCA	0.413																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(751-753)ttC>ttA		olfactory receptor, family 8, subfamily K, member 5							98.0	89.0	92.0					11																	55927041		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927041G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.753C>A	11.37:g.55927041G>T	ENSP00000323853:p.Phe251Leu						p.F251L	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	752	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	251					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.753C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322342	0.60634	.	.	ENSG00000181752	ENST00000313447	T	0.00285	8.3	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00608	0.0020	M	0.83692	2.655	0.26738	N	0.970449	D	0.89917	1.0	D	0.87578	0.998	T	0.37103	-0.9720	10	0.56958	D	0.05	.	8.3924	0.32537	0.1134:0.0:0.8866:0.0	.	251	Q8NH50	OR8K5_HUMAN	L	251	ENSP00000323853:F251L	ENSP00000323853:F251L	F	-	3	2	OR8K5	55683617	0.000000	0.05858	0.990000	0.47175	0.977000	0.68977	-0.172000	0.09868	2.202000	0.70862	0.465000	0.42564	TTC		0.413	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		66	282	1	0	3.13743e-37	1	3.76563e-37	66	282				
RASSF8	11228	broad.mit.edu	37	12	26217586	26217586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26217586C>T	ENST00000405154.2	+	3	458	c.259C>T	c.(259-261)Cga>Tga	p.R87*	RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	87					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TCTCAGTGAGCGACCCACTTC	0.473																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.(259-261)Cga>Tga		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							107.0	106.0	106.0					12																	26217586		2203	4300	6503	SO:0001587	stop_gained	11228				signal transduction			g.chr12:26217586C>T	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.259C>T	12.37:g.26217586C>T	ENSP00000384491:p.Arg87*					RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*	p.R87*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN			3	458	+	Colorectal(261;0.0847)		87					A8K1Z0|O95647|Q5SCI2|Q76KB6	Nonsense_Mutation	SNP	ENST00000405154.2	37	c.259C>T	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687605	0.68157	.	.	ENSG00000123094	ENST00000381352;ENST00000535907;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000542315;ENST00000541218;ENST00000282884;ENST00000545413;ENST00000541934	.	.	.	5.19	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1902	12.9569	0.58432	0.4002:0.5998:0.0:0.0	.	.	.	.	X	87	.	ENSP00000282884:R87X	R	+	1	2	RASSF8	26108853	0.999000	0.42202	0.998000	0.56505	0.500000	0.33767	0.663000	0.25053	1.319000	0.45190	0.591000	0.81541	CGA		0.473	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		139	500	0	0	0	1	0	139	500				
TFB2M	64216	broad.mit.edu	37	1	246707824	246707824	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246707824G>A	ENST00000366514.4	-	7	1203	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	340					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTTACTCACCGTAAGTGGTCT	0.333																																						ENST00000366514.4																			0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.e7+1		transcription factor B2, mitochondrial							88.0	95.0	92.0					1																	246707824		2203	4300	6503	SO:0001630	splice_region_variant	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246707824G>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1019+1C>T	1.37:g.246707824G>A							p.R340_splice	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		7	1203	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		340					Q9H626	Splice_Site	SNP	ENST00000366514.4	37	c.1019_splice	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878893	0.33162	.	.	ENSG00000162851	ENST00000366514	T	0.32753	1.44	5.12	-1.46	0.08800	.	0.696260	0.12484	N	0.464829	T	0.37945	0.1022	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.26883	-1.0090	10	0.72032	D	0.01	0.5149	8.2217	0.31545	0.0852:0.0:0.2499:0.6649	.	340	Q9H5Q4	TFB2M_HUMAN	C	340	ENSP00000355471:R340C	ENSP00000355471:R340C	R	-	1	0	TFB2M	244774447	0.641000	0.27251	0.013000	0.15412	0.052000	0.14988	0.524000	0.22940	-0.013000	0.14199	0.655000	0.94253	CGT		0.333	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366	Missense_Mutation	53	347	0	0	0	1	0	53	347				
PRDM9	56979	broad.mit.edu	37	5	23526654	23526654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23526654G>T	ENST00000296682.3	+	11	1639	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	486					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAATGGGGAGCTGTAGAGTG	0.453										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1456-1458)aGc>aTc		PR domain containing 9							38.0	38.0	38.0					5																	23526654		2079	4224	6303	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526654G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1457G>T	5.37:g.23526654G>T	ENSP00000296682:p.Ser486Ile	HNSCC(3;0.000094)					p.S486I	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1639	+			486					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1457G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188363	0.21954	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09538	2.97	2.71	0.764	0.18465	.	0.346301	0.21154	N	0.079277	T	0.08088	0.0202	L	0.46157	1.445	0.09310	N	1	P	0.50617	0.937	B	0.40329	0.326	T	0.25641	-1.0126	10	0.49607	T	0.09	-1.791	3.9423	0.09333	0.1509:0.2486:0.6005:0.0	.	486	Q9NQV7	PRDM9_HUMAN	I	486;280	ENSP00000296682:S486I	ENSP00000253473:S280I	S	+	2	0	PRDM9	23562411	0.717000	0.27966	0.001000	0.08648	0.143000	0.21401	0.000000	0.12993	0.160000	0.19432	0.505000	0.49811	AGC		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		6	223	1	0	0.00116845	1	0.00118049	6	223				
ITPR2	3709	broad.mit.edu	37	12	26636792	26636792	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26636792G>T	ENST00000381340.3	-	42	6267	c.5851C>A	c.(5851-5853)Cta>Ata	p.L1951I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1951					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCACAGACTAGGTTGTAATTT	0.408																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5851-5853)Cta>Ata		inositol 1,4,5-trisphosphate receptor, type 2							152.0	143.0	146.0					12																	26636792		1849	4092	5941	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26636792G>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5851C>A	12.37:g.26636792G>T	ENSP00000370744:p.Leu1951Ile						p.L1951I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			42	6267	-	Colorectal(261;0.0847)		1951					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.5851C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625897	0.87560	.	.	ENSG00000123104	ENST00000381340	D	0.95622	-3.76	5.17	4.26	0.50523	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95478	0.8558	10	0.34782	T	0.22	.	14.1395	0.65311	0.0732:0.0:0.9268:0.0	.	1951	Q14571	ITPR2_HUMAN	I	1951	ENSP00000370744:L1951I	ENSP00000370744:L1951I	L	-	1	2	ITPR2	26528059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.670000	0.83925	2.671000	0.90904	0.586000	0.80456	CTA		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	684	1	0	1.49906e-05	1	1.53515e-05	12	684				
TNNI3	7137	broad.mit.edu	37	19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	182					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(544-546)gaG>gaT		troponin I type 3 (cardiac)							66.0	69.0	68.0					19																	55665401		2061	4216	6277	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55665401C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.546G>T	19.37:g.55665401C>A	ENSP00000341838:p.Glu182Asp					TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	p.E182D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	688	-			182						Missense_Mutation	SNP	ENST00000344887.5	37	c.546G>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374201	0.42105	.	.	ENSG00000129991	ENST00000344887	D	0.94862	-3.54	4.72	3.67	0.42095	.	0.379769	0.24211	N	0.040530	D	0.88880	0.6557	L	0.31752	0.955	0.45250	D	0.998251	B	0.02656	0.0	B	0.01281	0.0	D	0.84146	0.0420	10	0.52906	T	0.07	-10.4701	7.9263	0.29876	0.0:0.7478:0.1621:0.0902	.	182	P19429	TNNI3_HUMAN	D	182	ENSP00000341838:E182D	ENSP00000341838:E182D	E	-	3	2	TNNI3	60357213	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.445000	0.44899	1.103000	0.41568	0.585000	0.79938	GAG		0.622	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			108	464	1	0	1.43872e-54	1	1.79623e-54	108	464				
DBN1	1627	broad.mit.edu	37	5	176886221	176886221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176886221G>A	ENST00000309007.5	-	11	1223	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	DBN1_ENST00000292385.5_Missense_Mutation_p.T337M|DBN1_ENST00000393563.4_Missense_Mutation_p.T67M|DBN1_ENST00000512501.1_Missense_Mutation_p.T67M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	335					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTCCGCGTGGGGATGGG	0.687																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1009-1011)aCg>aTg		drebrin 1							68.0	70.0	69.0					5																	176886221		2203	4299	6502	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176886221G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1004C>T	5.37:g.176886221G>A	ENSP00000308532:p.Thr335Met					DBN1_ENST00000393563.4_Missense_Mutation_p.T67M|DBN1_ENST00000512501.1_Missense_Mutation_p.T67M|DBN1_ENST00000309007.5_Missense_Mutation_p.T335M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M	p.T337M	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1619	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	335					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.1010C>T	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921700	0.33908	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.33438	1.46;1.46;1.42;1.41;1.46	4.58	4.58	0.56647	.	1.166000	0.06058	N	0.657899	T	0.29882	0.0747	N	0.14661	0.345	0.35351	D	0.787329	D;D;P;D	0.61080	0.988;0.989;0.798;0.981	P;P;B;P	0.50896	0.653;0.628;0.271;0.46	T	0.09487	-1.0672	10	0.36615	T	0.2	-0.4059	11.2259	0.48884	0.0:0.1858:0.8142:0.0	.	285;381;335;337	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	M	335;337;381;67;67	ENSP00000308532:T335M;ENSP00000292385:T337M;ENSP00000377195:T381M;ENSP00000423208:T67M;ENSP00000377193:T67M	ENSP00000292385:T337M	T	-	2	0	DBN1	176818827	0.980000	0.34600	0.939000	0.37840	0.564000	0.35744	1.979000	0.40608	2.260000	0.74910	0.462000	0.41574	ACG		0.687	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		14	651	0	0	0	1	0	14	651				
AFMID	125061	broad.mit.edu	37	17	76187079	76187079	+	Missense_Mutation	SNP	G	G	A	rs369400202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76187079G>A	ENST00000586731.1	+	2	62	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000409257.5_Missense_Mutation_p.R31Q|AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q|AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGTCCCAGCCGATGGGTTGTC	0.567																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(91-93)cGa>cAa		arylformamidase		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	83.0	93.0		92,92	1.7	1.0	17		93	0,8600		0,0,4300	no	missense,missense	AFMID	NM_001010982.4,NM_001145526.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	31/304,31/309	76187079	1,13005	2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76187079G>A	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.41G>A	17.37:g.76187079G>A	ENSP00000466241:p.Arg14Gln					AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q|AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q|AFMID_ENST00000586731.1_Missense_Mutation_p.R14Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q	p.R31Q	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		2	146	+			31						Missense_Mutation	SNP	ENST00000586731.1	37	c.92G>A		.	.	.	.	.	.	.	.	.	.	G	4.510	0.094635	0.08681	2.27E-4	0.0	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.81	1.68	0.24146	.	0.599357	0.14078	N	0.342936	T	0.19685	0.0473	N	0.21194	0.64	0.20563	N	0.999889	B;P;B;B	0.34462	0.029;0.454;0.001;0.006	B;B;B;B	0.23852	0.033;0.049;0.002;0.007	T	0.11665	-1.0578	9	0.18276	T	0.48	-3.4178	11.125	0.48312	0.2104:0.0:0.7896:0.0	.	31;31;31;31	A5PLM3;B8ZZB1;Q63HM1;Q63HM1-2	.;.;AFMID_HUMAN;.	Q	31	.	ENSP00000328938:R31Q	R	+	2	0	AFMID	73698674	1.000000	0.71417	0.953000	0.39169	0.005000	0.04900	1.756000	0.38390	-0.116000	0.11893	-1.307000	0.01316	CGA		0.567	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1	XM_058889		7	165	0	0	0	1	0	7	165				
WWC2	80014	broad.mit.edu	37	4	184186218	184186218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184186218C>T	ENST00000403733.3	+	12	2196	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F|WWC2_ENST00000504005.1_Missense_Mutation_p.S348F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	666					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTGATGAGTCTGTGGCTGGA	0.502																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1996-1998)tCt>tTt		WW and C2 domain containing 2							98.0	94.0	96.0					4																	184186218		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184186218C>T	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1997C>T	4.37:g.184186218C>T	ENSP00000384222:p.Ser666Phe					WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F|WWC2_ENST00000504005.1_Missense_Mutation_p.S348F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F	p.S666F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	12	2196	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	666					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1997C>T	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665799	0.88251	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.66137	0.2759	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-15.9818	18.5932	0.91222	0.0:1.0:0.0:0.0	.	666;617	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	F	666;568;617;666;348	ENSP00000384222:S666F;ENSP00000368205:S568F;ENSP00000425054:S617F;ENSP00000398577:S666F;ENSP00000427569:S348F	ENSP00000368205:S568F	S	+	2	0	WWC2	184423212	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	7.011000	0.76359	2.610000	0.88304	0.563000	0.77884	TCT		0.502	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		13	180	0	0	0	1	0	13	180				
FLG	2312	broad.mit.edu	37	1	152279011	152279011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152279011T>C	ENST00000368799.1	-	3	8386	c.8351A>G	c.(8350-8352)gAc>gGc	p.D2784G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2784	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAATGGTGTCCTGACCGTC	0.602									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8350-8352)gAc>gGc		filaggrin							416.0	546.0	502.0					1																	152279011		2198	4300	6498	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279011T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8351A>G	1.37:g.152279011T>C	ENSP00000357789:p.Asp2784Gly					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D2784G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8386	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2784			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8351A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	9.496	1.101951	0.20632	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01629	4.72	2.68	-5.36	0.02689	.	.	.	.	.	T	0.00695	0.0023	M	0.77820	2.39	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.42378	-0.9455	9	0.44086	T	0.13	8.0E-4	1.9501	0.03364	0.1086:0.2667:0.189:0.4357	.	2784	P20930	FILA_HUMAN	G	2784;46	ENSP00000357789:D2784G	ENSP00000357786:D46G	D	-	2	0	FLG	150545635	0.243000	0.23878	0.000000	0.03702	0.067000	0.16453	-0.243000	0.08915	-1.533000	0.01745	0.254000	0.18369	GAC		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		547	4391	0	0	0	1	0	547	4391				
SMARCA4	6597	broad.mit.edu	37	19	11134266	11134266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11134266C>T	ENST00000429416.3	+	21	3213	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	978					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCTTGCTCCGACGACTCAA	0.572			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2932-2934)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							56.0	51.0	53.0					19																	11134266		2202	4300	6502	SO:0001587	stop_gained	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11134266C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2932C>T	19.37:g.11134266C>T	ENSP00000395654:p.Arg978*					SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*	p.R978*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			20	3216	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	978					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	ENST00000429416.3	37	c.2932C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	40	8.271704	0.98737	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.9	3.82	0.43975	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8503	12.3162	0.54958	0.2155:0.7845:0.0:0.0	.	.	.	.	X	978;978;1042;978;978;978;978;978	.	ENSP00000343896:R978X	R	+	1	2	SMARCA4	10995266	0.036000	0.19791	1.000000	0.80357	0.978000	0.69477	0.328000	0.19681	2.542000	0.85734	0.655000	0.94253	CGA		0.572	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		21	85	0	0	0	1	0	21	85				
FAM21C	253725	broad.mit.edu	37	10	46264949	46264949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46264949C>T	ENST00000336378.4	+	20	2034	c.1916C>T	c.(1915-1917)tCt>tTt	p.S639F	FAM21C_ENST00000537517.1_Missense_Mutation_p.S617F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S583F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S641F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	639					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GACAGCAGGTCTAAAGGAGAA	0.463																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1915-1917)tCt>tTt		family with sequence similarity 21, member C							7.0	7.0	7.0					10																	46264949		1433	3432	4865	SO:0001583	missense	253725							g.chr10:46264949C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1916C>T	10.37:g.46264949C>T	ENSP00000337541:p.Ser639Phe					FAM21C_ENST00000359860.4_Missense_Mutation_p.S583F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S617F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S641F	p.S639F	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			20	2034	+			641					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1916C>T		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252178	0.22880	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.29	2.27	0.28462	.	0.613015	0.16911	N	0.194482	T	0.60495	0.2273	M	0.72479	2.2	0.34743	D	0.730933	D;P;P;D	0.60575	0.988;0.933;0.933;0.988	P;P;P;P	0.56700	0.804;0.474;0.474;0.714	T	0.70103	-0.4964	9	0.56958	D	0.05	-3.7327	7.059	0.25115	0.2697:0.7303:0.0:0.0	.	617;641;639;584	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	F	639;641;617;641;641;583;553	.	ENSP00000337541:S639F	S	+	2	0	FAM21C	45584955	0.337000	0.24766	0.471000	0.27229	0.212000	0.24457	1.209000	0.32357	1.836000	0.53414	0.549000	0.68633	TCT		0.463	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				61	242	0	0	0	1	0	61	242				
HDAC4	9759	broad.mit.edu	37	2	240029793	240029793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240029793T>C	ENST00000345617.3	-	15	2841	c.2050A>G	c.(2050-2052)Agc>Ggc	p.S684G	HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G|HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	684	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GACCAGATGCTCTGGATCCTC	0.682																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2050-2052)Agc>Ggc		histone deacetylase 4							28.0	28.0	28.0					2																	240029793		2194	4299	6493	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240029793T>C	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2050A>G	2.37:g.240029793T>C	ENSP00000264606:p.Ser684Gly					HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G|HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G	p.S684G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	15	2841	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	684			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2050A>G	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518191	0.85495	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.70986	-0.53;-0.53;-0.53	4.01	4.01	0.46588	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.998;1.0;1.0;0.999	P;D;D;D;D;D	0.85130	0.741;0.997;0.988;0.997;0.988;0.987	D	0.87265	0.2282	10	0.87932	D	0	.	13.2665	0.60137	0.0:0.0:0.0:1.0	.	684;567;658;658;652;684	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	G	684;572;268;658;567	ENSP00000264606:S684G;ENSP00000440481:S268G;ENSP00000443057:S658G	ENSP00000264606:S684G	S	-	1	0	HDAC4	239694730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	1.598000	0.50083	0.460000	0.39030	AGC		0.682	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		54	160	0	0	0	1	0	54	160				
VENTX	27287	broad.mit.edu	37	10	135051472	135051472	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051472C>T	ENST00000325980.9	+	1	565	c.54C>T	c.(52-54)ggC>ggT	p.G18G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	18					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCAGCTTTGGCTCCGTGGACT	0.726																																						ENST00000325980.9																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(52-54)ggC>ggT		VENT homeobox							8.0	9.0	9.0					10																	135051472		2133	4233	6366	SO:0001819	synonymous_variant	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135051472C>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.54C>T	10.37:g.135051472C>T							p.G18G	NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	565	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	18					Q32MZ3	Silent	SNP	ENST00000325980.9	37	c.54C>T	CCDS7675.1																																																																																				0.726	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		19	69	0	0	0	1	0	19	69				
PTDSS1	9791	broad.mit.edu	37	8	97296348	97296348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97296348C>T	ENST00000517309.1	+	3	609	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(283-285)Cga>Tga		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						156.0	158.0	157.0					8																	97296348		2203	4300	6503	SO:0001587	stop_gained	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97296348C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.283C>T	8.37:g.97296348C>T	ENSP00000430548:p.Arg95*					PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	p.R95*	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			3	609	+	Breast(36;6.18e-05)		95					E5RFC5|Q9BUQ5	Nonsense_Mutation	SNP	ENST00000517309.1	37	c.283C>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	40	8.117612	0.98662	.	.	ENSG00000156471	ENST00000517309	.	.	.	5.16	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5217	12.3532	0.55161	0.3274:0.6726:0.0:0.0	.	.	.	.	X	95	.	ENSP00000430548:R95X	R	+	1	2	PTDSS1	97365524	0.944000	0.32072	0.870000	0.34147	0.980000	0.70556	2.050000	0.41297	0.465000	0.27167	0.603000	0.83216	CGA		0.353	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			89	393	0	0	0	1	0	89	393				
PAPSS1	9061	broad.mit.edu	37	4	108535481	108535481	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108535481T>G	ENST00000265174.4	-	12	2071	c.1799A>C	c.(1798-1800)aAa>aCa	p.K600T		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	600					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTCAGGTGGTTTCTGGCCTTC	0.423																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1798-1800)aAa>aCa		3'-phosphoadenosine 5'-phosphosulfate synthase 1							120.0	110.0	113.0					4																	108535481		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108535481T>G	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1799A>C	4.37:g.108535481T>G	ENSP00000265174:p.Lys600Thr						p.K600T	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	12	2071	-		Hepatocellular(203;0.217)	600					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1799A>C	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854642	0.51376	.	.	ENSG00000138801	ENST00000265174	T	0.30714	1.52	6.16	6.16	0.99307	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.041594	0.85682	D	0.000000	T	0.15696	0.0378	N	0.02368	-0.58	0.46609	D	0.999125	B	0.11235	0.004	B	0.20184	0.028	T	0.18023	-1.0350	10	0.22109	T	0.4	-24.0308	16.8061	0.85666	0.0:0.0:0.0:1.0	.	600	O43252	PAPS1_HUMAN	T	600	ENSP00000265174:K600T	ENSP00000265174:K600T	K	-	2	0	PAPSS1	108754930	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	5.642000	0.67888	2.367000	0.80283	0.528000	0.53228	AAA		0.423	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			91	364	0	0	0	1	0	91	364				
RAP2A	5911	broad.mit.edu	37	13	98086853	98086853	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98086853G>A	ENST00000245304.4	+	1	378	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	43					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACCGCAAGGAGATCGAGGTGG	0.627																																						ENST00000245304.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(127-129)gaG>gaA		RAP2A, member of RAS oncogene family							118.0	110.0	113.0					13																	98086853		2203	4300	6503	SO:0001819	synonymous_variant	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98086853G>A	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.129G>A	13.37:g.98086853G>A							p.E43E	NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		1	378	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		43					B2RCJ1|Q5JSC1|Q5JSC2	Silent	SNP	ENST00000245304.4	37	c.129G>A	CCDS9485.1																																																																																				0.627	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4			104	523	0	0	0	1	0	104	523				
EGR3	1960	broad.mit.edu	37	8	22548815	22548815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22548815C>T	ENST00000317216.2	-	2	692	c.335G>A	c.(334-336)gGg>gAg	p.G112E	EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	112					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGGGGGCACCCCCAAGATGCC	0.637																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(334-336)gGg>gAg		early growth response 3							37.0	40.0	39.0					8																	22548815		2201	4299	6500	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548815C>T	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.335G>A	8.37:g.22548815C>T	ENSP00000318057:p.Gly112Glu					RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|EGR3_ENST00000519492.1_3'UTR	p.G112E	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	692	-		Prostate(55;0.0421)|Breast(100;0.102)	112					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.335G>A	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697254	0.68386	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.27720	1.65;1.65	5.39	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57780	-0.7752	10	0.87932	D	0	-14.7611	12.5883	0.56430	0.1667:0.8333:0.0:0.0	.	74;112	E7EW38;Q06889	.;EGR3_HUMAN	E	112;74	ENSP00000318057:G112E;ENSP00000430310:G74E	ENSP00000318057:G112E	G	-	2	0	EGR3	22604760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.840000	0.62817	2.517000	0.84864	0.462000	0.41574	GGG		0.637	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		73	324	0	0	0	1	0	73	324				
SLC2A1	6513	broad.mit.edu	37	1	43394659	43394659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43394659C>T	ENST00000426263.3	-	8	1196	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	340					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCAGCGAGGCCTATGAGGTGC	0.612																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(1018-1020)Ggc>Agc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						114.0	109.0	111.0					1																	43394659		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43394659C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1018G>A	1.37:g.43394659C>T	ENSP00000416293:p.Gly340Ser					SLC2A1_ENST00000475162.1_Intron	p.G340S	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			8	1196	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	340					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.1018G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666946	0.96745	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	D	0.84800	-1.9	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.91337	0.5094	10	0.87932	D	0	.	16.9679	0.86291	0.0:1.0:0.0:0.0	.	340	P11166	GTR1_HUMAN	S	340;340;282	ENSP00000416293:G340S	ENSP00000361579:G340S	G	-	1	0	SLC2A1	43167246	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.440000	0.80464	2.601000	0.87937	0.650000	0.86243	GGC		0.612	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		125	563	0	0	0	1	0	125	563				
PARP15	165631	broad.mit.edu	37	3	122353966	122353966	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122353966T>G	ENST00000464300.2	+	11	1738	c.1672T>G	c.(1672-1674)Ttc>Gtc	p.F558V	PARP15_ENST00000310366.4_Missense_Mutation_p.F324V|PARP15_ENST00000483793.1_Missense_Mutation_p.F363V|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	558	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GAGACTCCTCTTCCATGGGAC	0.418																																						ENST00000483793.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1087-1089)Ttc>Gtc		poly (ADP-ribose) polymerase family, member 15							88.0	79.0	82.0					3																	122353966		2203	4300	6503	SO:0001583	missense	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122353966T>G	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1672T>G	3.37:g.122353966T>G	ENSP00000417214:p.Phe558Val					PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V|PARP15_ENST00000464300.2_Missense_Mutation_p.F558V|PARP15_ENST00000310366.4_Missense_Mutation_p.F324V	p.F363V			Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1127	+			536			Macro 2.		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	c.1087T>G	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128775	0.77549	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.83	3.83	0.44106	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.62660	0.2446	H	0.97103	3.94	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.989;0.999;0.998	T	0.74592	-0.3614	9	0.87932	D	0	.	11.5636	0.50792	0.0:0.0:0.0:1.0	.	255;324;305;363;536	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	V	558;363;305;324;255	ENSP00000417214:F558V;ENSP00000417785:F363V;ENSP00000308436:F324V;ENSP00000419488:F255V	ENSP00000308436:F324V	F	+	1	0	PARP15	123836656	1.000000	0.71417	0.924000	0.36721	0.989000	0.77384	7.617000	0.83032	1.609000	0.50190	0.533000	0.62120	TTC		0.418	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		59	230	0	0	0	1	0	59	230				
OGDH	4967	broad.mit.edu	37	7	44747498	44747498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747498C>T	ENST00000222673.5	+	23	3014	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	991					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CGGGACCCAGCGGCTGCTCCA	0.652																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2971-2973)gCg>gTg		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						47.0	45.0	45.0					7																	44747498		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747498C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2972C>T	7.37:g.44747498C>T	ENSP00000222673:p.Ala991Val					OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V|OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V	p.A991V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			23	3014	+			991					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2972C>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455110	0.96223	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.0	5.0	0.66597	.	0.055387	0.64402	D	0.000001	T	0.38665	0.1049	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.69078	0.99;0.99;0.997;0.997;0.997	P;P;P;P;P	0.55055	0.567;0.567;0.767;0.767;0.767	T	0.57100	-0.7869	10	0.87932	D	0	-18.9093	18.2463	0.89986	0.0:1.0:0.0:0.0	.	786;841;987;1002;991	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	V	841;987;1002;1006;991;942	ENSP00000398576:A841V;ENSP00000392878:A987V;ENSP00000388183:A1002V;ENSP00000414662:A1006V;ENSP00000222673:A991V;ENSP00000443821:A942V	ENSP00000222673:A991V	A	+	2	0	OGDH	44714023	1.000000	0.71417	0.234000	0.24042	0.894000	0.52154	7.439000	0.80444	2.474000	0.83562	0.313000	0.20887	GCG		0.652	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			76	325	0	0	0	1	0	76	325				
B4GALNT3	283358	broad.mit.edu	37	12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:657400C>T	ENST00000266383.5	+	9	803	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	264					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(790-792)Cga>Tga		beta-1,4-N-acetyl-galactosaminyl transferase 3							127.0	99.0	109.0					12																	657400		2203	4300	6503	SO:0001587	stop_gained	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:657400C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.790C>T	12.37:g.657400C>T	ENSP00000266383:p.Arg264*					B4GALNT3_ENST00000544638.1_3'UTR	p.R264*	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		9	803	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		264					Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	ENST00000266383.5	37	c.790C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396368	0.62177	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.24	3.34	0.38264	.	0.228496	0.38778	N	0.001568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8307	8.0176	0.30389	0.3527:0.5677:0.0:0.0796	.	.	.	.	X	264;166	.	ENSP00000266383:R264X	R	+	1	2	B4GALNT3	527661	1.000000	0.71417	0.992000	0.48379	0.385000	0.30292	1.776000	0.38594	0.530000	0.28619	0.561000	0.74099	CGA		0.582	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		44	238	0	0	0	1	0	44	238				
PHF21B	112885	broad.mit.edu	37	22	45309858	45309858	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45309858G>A	ENST00000313237.5	-	5	825	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	225							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGATGCCATggaggggtgaag	0.642																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(673-675)ctC>ctT		PHD finger protein 21B							57.0	57.0	57.0					22																	45309858		2202	4300	6502	SO:0001819	synonymous_variant	112885						zinc ion binding	g.chr22:45309858G>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.675C>T	22.37:g.45309858G>A						PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron	p.L225L	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	5	825	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	225					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	ENST00000313237.5	37	c.675C>T	CCDS14061.1																																																																																				0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		100	385	0	0	0	1	0	100	385				
ARMC4	55130	broad.mit.edu	37	10	28224123	28224123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28224123C>A	ENST00000305242.5	-	16	2403	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	771					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAAGTACTTCTTCAGGCTGA	0.433																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2311-2313)Gaa>Taa		armadillo repeat containing 4							141.0	136.0	138.0					10																	28224123		2203	4300	6503	SO:0001587	stop_gained	55130						binding	g.chr10:28224123C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2311G>T	10.37:g.28224123C>A	ENSP00000306410:p.Glu771*					ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*	p.E771*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			16	2403	-			771					A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	ENST00000305242.5	37	c.2311G>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	42	9.429866	0.99169	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	.	.	.	5.92	5.92	0.95590	.	0.087917	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-38.5196	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	463;771;296	.	ENSP00000306410:E771X	E	-	1	0	ARMC4	28264129	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.762000	0.85270	2.809000	0.96659	0.655000	0.94253	GAA		0.433	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		18	412	1	0	1.67942e-08	1	1.75525e-08	18	412				
NPHP4	261734	broad.mit.edu	37	1	5935119	5935119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5935119C>A	ENST00000378156.4	-	21	3124	c.2859G>T	c.(2857-2859)caG>caT	p.Q953H	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	953					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGATGACCTGTAGGTCCC	0.672																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2857-2859)caG>caT		nephronophthisis 4							50.0	59.0	56.0					1																	5935119		2190	4285	6475	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5935119C>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2859G>T	1.37:g.5935119C>A	ENSP00000367398:p.Gln953His					NPHP4_ENST00000478423.2_5'UTR	p.Q953H	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	21	3124	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	953					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.2859G>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.564220	0.45694	.	.	ENSG00000131697	ENST00000378156	D	0.87966	-2.32	4.88	3.95	0.45737	.	0.250550	0.33127	N	0.005249	D	0.83487	0.5265	L	0.43152	1.355	0.32498	N	0.539217	P	0.42337	0.776	B	0.42798	0.398	D	0.85336	0.1093	10	0.40728	T	0.16	.	12.6168	0.56582	0.0:0.9189:0.0:0.0811	.	953	O75161	NPHP4_HUMAN	H	953	ENSP00000367398:Q953H	ENSP00000367398:Q953H	Q	-	3	2	NPHP4	5857706	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.414000	0.44627	1.048000	0.40298	0.550000	0.68814	CAG		0.672	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			25	91	1	0	1.10923e-09	1	1.16946e-09	25	91				
PRCC	5546	broad.mit.edu	37	1	156764479	156764479	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156764479G>T	ENST00000271526.4	+	5	1474	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	PRCC_ENST00000353233.3_Missense_Mutation_p.R369M	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	401					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGGCAAGAGGAACCGAGGG	0.478			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1201-1203)aGg>aTg		papillary renal cell carcinoma (translocation-associated)							62.0	64.0	63.0					1																	156764479		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156764479G>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1202G>T	1.37:g.156764479G>T	ENSP00000271526:p.Arg401Met					PRCC_ENST00000353233.3_Missense_Mutation_p.R369M	p.R401M	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			5	1474	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		401					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.1202G>T	CCDS1157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.956318|3.956318	0.73902|0.73902	.|.	.|.	ENSG00000143294|ENSG00000143294	ENST00000454659|ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.059757	.|0.64402	.|D	.|0.000003	.|T	.|0.42966	.|0.1226	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.76494	.|0.999;0.991	.|P;P	.|0.59825	.|0.864;0.747	.|T	.|0.48614	.|-0.9020	.|10	.|0.66056	.|D	.|0.02	-14.926|-14.926	16.6585|16.6585	0.85235|0.85235	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|369;401	.|A6NG79;Q92733	.|.;PRCC_HUMAN	X|M	167|401;369;377;108	.|ENSP00000271526:R401M;ENSP00000339300:R369M;ENSP00000434762:R108M	.|ENSP00000271526:R401M	G|R	+|+	1|2	0|0	PRCC|PRCC	155031103|155031103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.765000|0.765000	0.43378|0.43378	6.798000|6.798000	0.75155|0.75155	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.478	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		8	203	1	0	1.06961e-07	1	1.11297e-07	8	203				
OSBPL2	9885	broad.mit.edu	37	20	60864297	60864297	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60864297A>G	ENST00000313733.3	+	12	1362	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	387					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTGAGCCTCAACGAGCTGGAG	0.582																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1159-1161)aAc>aGc		oxysterol binding protein-like 2							87.0	66.0	73.0					20																	60864297		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60864297A>G	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1160A>G	20.37:g.60864297A>G	ENSP00000316649:p.Asn387Ser					OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S	p.N387S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		12	1362	+	Breast(26;7.76e-09)		387					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.1160A>G	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444091	0.83993	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.52983	0.64;0.64	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84747	0.0754	10	0.87932	D	0	-8.5733	13.2847	0.60237	1.0:0.0:0.0:0.0	.	375;387	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	S	375;387	ENSP00000350755:N375S;ENSP00000316649:N387S	ENSP00000316649:N387S	N	+	2	0	OSBPL2	60297692	1.000000	0.71417	0.612000	0.29024	0.971000	0.66376	9.136000	0.94489	1.686000	0.51046	0.459000	0.35465	AAC		0.582	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		15	104	0	0	0	1	0	15	104				
OLFM2	93145	broad.mit.edu	37	19	9971444	9971444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9971444G>A	ENST00000264833.4	-	2	275	c.90C>T	c.(88-90)ggC>ggT	p.G30G	OLFM2_ENST00000590841.1_5'Flank	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	30					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACAGCTGCCAGCCCTCTTCTG	0.632																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(88-90)ggC>ggT		olfactomedin 2							26.0	25.0	25.0					19																	9971444		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9971444G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.90C>T	19.37:g.9971444G>A							p.G30G	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			2	275	-			30					Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.90C>T	CCDS12221.1																																																																																				0.632	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			11	49	0	0	0	1	0	11	49				
MYO5B	4645	broad.mit.edu	37	18	47500787	47500787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47500787G>A	ENST00000285039.7	-	10	1554	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	419	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTGTTGATGTGCTCCACAATC	0.582																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1255-1257)Cac>Tac		myosin VB							139.0	150.0	147.0					18																	47500787		2176	4264	6440	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47500787G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1255C>T	18.37:g.47500787G>A	ENSP00000285039:p.His419Tyr						p.H419Y	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	10	1554	-			419			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1255C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708535	0.89018	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.87256	-2.23	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	L	0.48218	1.51	0.80722	D	1	B;B	0.25667	0.131;0.001	P;B	0.46419	0.516;0.006	D	0.84433	0.0578	10	0.21014	T	0.42	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	418;419	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	Y	419;418	ENSP00000285039:H419Y	ENSP00000285039:H419Y	H	-	1	0	MYO5B	45754785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.751000	0.98889	2.735000	0.93741	0.655000	0.94253	CAC		0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			19	391	0	0	0	1	0	19	391				
C17orf85	55421	broad.mit.edu	37	17	3716516	3716516	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3716516T>G	ENST00000389005.4	-	13	1712	c.1685A>C	c.(1684-1686)aAa>aCa	p.K562T	C17orf85_ENST00000158149.3_Missense_Mutation_p.K282T	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	562							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTGATCCACTTTCTTCGTATT	0.502																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(844-846)aAa>aCa		chromosome 17 open reading frame 85							158.0	152.0	154.0					17																	3716516		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3716516T>G		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1685A>C	17.37:g.3716516T>G	ENSP00000373657:p.Lys562Thr					C17orf85_ENST00000389005.4_Missense_Mutation_p.K562T	p.K282T			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	14	1740	-			562					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.845A>C	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159664	0.38119	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.61	5.61	0.85477	.	0.189830	0.56097	D	0.000031	T	0.37433	0.1003	N	0.24115	0.695	0.43896	D	0.996521	B	0.33694	0.421	B	0.24848	0.056	T	0.33189	-0.9878	9	0.51188	T	0.08	-19.2377	14.0665	0.64834	0.0:0.0:0.0:1.0	.	562	Q53F19	CQ085_HUMAN	T	562;282	.	ENSP00000158149:K282T	K	-	2	0	C17orf85	3663265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.725000	0.54970	2.281000	0.76405	0.533000	0.62120	AAA		0.502	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		140	584	0	0	0	1	0	140	584				
MYT1	4661	broad.mit.edu	37	20	62839080	62839080	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839080G>T	ENST00000328439.1	+	7	895	c.531G>T	c.(529-531)gaG>gaT	p.E177D	MYT1_ENST00000536311.1_Missense_Mutation_p.E177D|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGCTGAAGAGACCCTGGTGG	0.612																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(529-531)gaG>gaT		myelin transcription factor 1							66.0	65.0	65.0					20																	62839080		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839080G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.531G>T	20.37:g.62839080G>T	ENSP00000327465:p.Glu177Asp					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E177D	p.E177D			Q01538	MYT1_HUMAN			7	895	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		177					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.531G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	9.517	1.107190	0.20714	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.47528	0.85;0.84	4.72	3.65	0.41850	.	0.186992	0.41396	D	0.000894	T	0.32406	0.0828	L	0.59436	1.845	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23583	-1.0184	10	0.02654	T	1	-17.0321	3.1077	0.06347	0.4368:0.0:0.5632:0.0	.	177	Q01538	MYT1_HUMAN	D	177	ENSP00000327465:E177D;ENSP00000442412:E177D	ENSP00000327465:E177D	E	+	3	2	MYT1	62309524	1.000000	0.71417	0.158000	0.22627	0.219000	0.24729	0.842000	0.27627	2.188000	0.69820	0.552000	0.68991	GAG		0.612	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		9	382	1	0	5.50884e-06	1	5.65664e-06	9	382				
PDGFC	56034	broad.mit.edu	37	4	157689048	157689048	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157689048G>A	ENST00000502773.1	-	5	1288	c.798C>T	c.(796-798)acC>acT	p.T266T	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Silent_p.T103T|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000542208.1_Silent_p.T111T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	266					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AAATGGTATCGGTTCTCTTTA	0.453																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(796-798)acC>acT		platelet derived growth factor C							184.0	168.0	173.0					4																	157689048		2203	4299	6502	SO:0001819	synonymous_variant	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689048G>A	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.798C>T	4.37:g.157689048G>A						PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000542208.1_Silent_p.T111T|PDGFC_ENST00000541126.1_Silent_p.T103T|PDGFC_ENST00000422544.2_Intron	p.T266T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1288	-	all_hematologic(180;0.24)	Renal(120;0.0458)	266					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	37	c.798C>T	CCDS3795.1																																																																																				0.453	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			19	579	0	0	0	1	0	19	579				
ZNF224	7767	broad.mit.edu	37	19	44612103	44612103	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44612103A>C	ENST00000336976.6	+	6	2044	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	597					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAGCCATACAAATGTGATGAG	0.463																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(1789-1791)aAa>aCa		zinc finger protein 224							86.0	88.0	87.0					19																	44612103		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44612103A>C	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1790A>C	19.37:g.44612103A>C	ENSP00000337368:p.Lys597Thr					AC084219.4_ENST00000592946.1_RNA	p.K597T	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	2044	+		Prostate(69;0.0435)	597					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.1790A>C	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	a	13.25	2.180398	0.38511	.	.	ENSG00000186019	ENST00000336976	T	0.18810	2.19	2.93	0.748	0.18376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.52266	1.64	0.09310	N	1	P	0.38729	0.644	B	0.30572	0.117	T	0.16689	-1.0394	9	0.41790	T	0.15	.	3.5138	0.07717	0.5603:0.1998:0.2399:0.0	.	597	Q9NZL3	ZN224_HUMAN	T	597	ENSP00000337368:K597T	ENSP00000337368:K597T	K	+	2	0	ZNF224	49303943	0.000000	0.05858	0.004000	0.12327	0.696000	0.40369	-2.518000	0.00953	-0.024000	0.13941	0.482000	0.46254	AAA		0.463	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		99	355	0	0	0	1	0	99	355				
ROR1	4919	broad.mit.edu	37	1	64475030	64475030	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64475030T>G	ENST00000371079.1	+	2	520	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ROR1_ENST00000371080.1_Missense_Mutation_p.S49A|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	49	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATGGAACATCTCAAGTGAACT	0.443																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(145-147)Tca>Gca		receptor tyrosine kinase-like orphan receptor 1							170.0	169.0	169.0					1																	64475030		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64475030T>G	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.145T>G	1.37:g.64475030T>G	ENSP00000360120:p.Ser49Ala					ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.S49A	p.S49A	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			2	520	+			49			Ig-like C2-type.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.145T>G	CCDS626.1	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284512	0.10513	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.74947	0.0;-0.89	5.86	5.86	0.93980	Immunoglobulin-like (1);	0.000000	0.30401	U	0.009703	T	0.50137	0.1598	N	0.04090	-0.28	0.80722	D	1	P;P	0.44690	0.841;0.841	P;P	0.51170	0.661;0.661	T	0.58515	-0.7623	10	0.13470	T	0.59	.	15.9094	0.79461	0.0:0.0:0.0:1.0	.	49;49	Q01973;Q66K77	ROR1_HUMAN;.	A	49;49;52	ENSP00000360121:S49A;ENSP00000360120:S49A	ENSP00000360120:S49A	S	+	1	0	ROR1	64247618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.106000	0.64597	2.241000	0.73720	0.533000	0.62120	TCA		0.443	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		185	713	0	0	0	1	0	185	713				
CMTM7	112616	broad.mit.edu	37	3	32483422	32483422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32483422G>A	ENST00000334983.5	+	2	486	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	84	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						CACCATTTGCGACTTGATAAT	0.547																																						ENST00000334983.5																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(250-252)Gac>Aac		CKLF-like MARVEL transmembrane domain containing 7							220.0	185.0	197.0					3																	32483422		2203	4300	6503	SO:0001583	missense	0				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32483422G>A	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"""chemokine-like factor super family 7"", ""chemokine-like factor superfamily 7"""	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.250G>A	3.37:g.32483422G>A	ENSP00000335605:p.Asp84Asn					CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	p.D84N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN			2	486	+			84			MARVEL.		Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	c.250G>A	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210546	0.09757	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.25085	1.82	5.5	3.58	0.41010	Marvel (1);MARVEL-like domain (1);	0.293959	0.35466	N	0.003183	T	0.12433	0.0302	N	0.17674	0.51	0.27806	N	0.942302	B;B	0.21821	0.061;0.011	B;B	0.14578	0.011;0.006	T	0.18681	-1.0329	10	0.23891	T	0.37	.	3.0843	0.06272	0.2612:0.0:0.5303:0.2085	.	84;84	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	N	84;84;40	ENSP00000335605:D84N	ENSP00000335605:D84N	D	+	1	0	CMTM7	32458426	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.887000	0.48586	0.571000	0.29365	-0.229000	0.12294	GAC		0.547	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			26	611	0	0	0	1	0	26	611				
MTFR1	9650	broad.mit.edu	37	8	66619263	66619263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66619263C>T	ENST00000262146.4	+	6	662	c.536C>T	c.(535-537)aCa>aTa	p.T179I	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	179	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATTCTACCACATTTGGTACC	0.438																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(535-537)aCa>aTa		mitochondrial fission regulator 1							89.0	91.0	90.0					8																	66619263		2200	4299	6499	SO:0001583	missense	9650					mitochondrion|plasma membrane		g.chr8:66619263C>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.536C>T	8.37:g.66619263C>T	ENSP00000262146:p.Thr179Ile					MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I	p.T179I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	662	+			179					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	c.536C>T	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.510237|1.510237	0.27036|0.27036	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.49432	.|0.78;0.78	5.49|5.49	2.42|2.42	0.29668|0.29668	.|.	.|0.976929	.|0.08443	.|N	.|0.945124	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.17465	.|0.022;0.004;0.002;0.005	.|B;B;B;B	.|0.20384	.|0.029;0.014;0.002;0.011	T|T	0.26087|0.26087	-1.0113|-1.0113	5|10	.|0.36615	.|T	.|0.2	0.3655|0.3655	7.3468|7.3468	0.26668|0.26668	0.0:0.5859:0.3241:0.09|0.0:0.5859:0.3241:0.09	.|.	.|179;163;146;179	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	Y|I	137|163;179;146	.|ENSP00000262146:T179I;ENSP00000391502:T146I	.|ENSP00000262146:T179I	H|T	+|+	1|2	0|0	MTFR1|MTFR1	66781817|66781817	0.000000|0.000000	0.05858|0.05858	0.079000|0.079000	0.20413|0.20413	0.650000|0.650000	0.38633|0.38633	0.112000|0.112000	0.15479|0.15479	1.280000|1.280000	0.44463|0.44463	0.650000|0.650000	0.86243|0.86243	CAT|ACA		0.438	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		29	323	0	0	0	1	0	29	323				
MAP3K12	7786	broad.mit.edu	37	12	53880946	53880946	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880946G>A	ENST00000267079.2	-	3	363				MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000547035.1_Missense_Mutation_p.A77V|MAP3K12_ENST00000547488.1_Missense_Mutation_p.A77V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GACACTGTTGGCAAAAGGCTC	0.652																																						ENST00000547035.1																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(229-231)gCc>gTc		mitogen-activated protein kinase kinase kinase 12							43.0	44.0	44.0					12																	53880946		2203	4300	6503	SO:0001627	intron_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880946G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.138-7C>T	12.37:g.53880946G>A						MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547488.1_Missense_Mutation_p.A77V	p.A77V			Q12852	M3K12_HUMAN			2	434	-			46					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.230C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965520	0.74131	.	.	ENSG00000139625	ENST00000547488;ENST00000547035	T;T	0.76448	-1.02;-1.02	5.14	5.14	0.70334	.	.	.	.	.	T	0.70360	0.3215	N	0.14661	0.345	0.32609	N	0.524887	D	0.53885	0.963	P	0.50109	0.631	T	0.69771	-0.5055	9	0.15066	T	0.55	.	17.7558	0.88449	0.0:0.0:1.0:0.0	.	77	G3V1Y2	.	V	77	ENSP00000449038:A77V;ENSP00000448689:A77V	ENSP00000448689:A77V	A	-	2	0	MAP3K12	52167213	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.283000	0.43470	2.584000	0.87258	0.462000	0.41574	GCC		0.652	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		69	294	0	0	0	1	0	69	294				
ARFGEF2	10564	broad.mit.edu	37	20	47628603	47628603	+	Silent	SNP	C	C	T	rs142138231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47628603C>T	ENST00000371917.4	+	28	3900	c.3900C>T	c.(3898-3900)taC>taT	p.Y1300Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1300					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTGGCAAATACGTCTCTGAGA	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3898-3900)taC>taT		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)		C		1,4405	2.1+/-5.4	0,1,2202	111.0	104.0	107.0		3900	-5.1	0.9	20	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	ARFGEF2	NM_006420.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1300/1786	47628603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47628603C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3900C>T	20.37:g.47628603C>T							p.Y1300Y	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		28	3900	+			1300					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.3900C>T	CCDS13411.1																																																																																				0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		31	431	0	0	0	1	0	31	431				
CDC42	998	broad.mit.edu	37	1	22417980	22417980	+	Silent	SNP	G	G	A	rs16826564	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22417980G>A	ENST00000344548.3	+	7	797	c.546G>A	c.(544-546)ccG>ccA	p.P182P	CDC42_ENST00000400259.1_Silent_p.P182P|CDC42_ENST00000421089.2_Silent_p.P224P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	182					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCCAGAACCGAAGAAGAGCC	0.458																																						ENST00000344548.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(544-546)ccG>ccA		cell division cycle 42							55.0	59.0	58.0					1																	22417980		2203	4300	6503	SO:0001819	synonymous_variant	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22417980G>A	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.546G>A	1.37:g.22417980G>A						CDC42_ENST00000421089.2_Silent_p.P224P|CDC42_ENST00000400259.1_Silent_p.P182P	p.P182P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	7	797	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	182					P21181|P25763|Q7L8R5|Q9UDI2	Silent	SNP	ENST00000344548.3	37	c.546G>A	CCDS221.1																																																																																				0.458	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		30	308	0	0	0	1	0	30	308				
PLA2G4E	123745	broad.mit.edu	37	15	42276014	42276014	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42276014G>A	ENST00000399518.3	-	20	3031	c.2545C>T	c.(2545-2547)Ctc>Ttc	p.L849F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	837	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGAGCCTGGAGGAGAGTGTCC	0.547																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(2545-2547)Ctc>Ttc		phospholipase A2, group IVE							59.0	59.0	59.0					15																	42276014		1915	4122	6037	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42276014G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.2545C>T	15.37:g.42276014G>A	ENSP00000382434:p.Leu849Phe					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F|CTD-2382E5.1_ENST00000499478.2_RNA	p.L849F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	20	3031	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	837			PLA2c.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.2545C>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823967	0.32237	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04603	3.59;3.59	5.56	2.41	0.29592	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.450271	0.21517	N	0.073294	T	0.06234	0.0161	M	0.80982	2.52	0.24240	N	0.995364	P;B	0.44816	0.844;0.279	B;B	0.34242	0.178;0.178	T	0.33214	-0.9877	10	0.59425	D	0.04	-2.2893	5.4388	0.16496	0.1566:0.0:0.5502:0.2932	.	820;837	C9JK77;Q3MJ16	.;PA24E_HUMAN	F	849;820	ENSP00000382434:L849F;ENSP00000413897:L820F	ENSP00000382434:L849F	L	-	1	0	PLA2G4E	40063306	1.000000	0.71417	0.994000	0.49952	0.389000	0.30415	1.983000	0.40648	0.658000	0.30925	0.655000	0.94253	CTC		0.547	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		16	50	0	0	0	1	0	16	50				
EXOC2	55770	broad.mit.edu	37	6	532557	532557	+	Silent	SNP	G	G	A	rs560648856		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:532557G>A	ENST00000230449.4	-	23	2427	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	EXOC2_ENST00000448181.3_Silent_p.I359I	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	764					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTCAACTCGATGTAATTTT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		17472	0.0		0.0	False		,,,				2504	0.001					ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2290-2292)atC>atT		exocyst complex component 2							123.0	118.0	119.0					6																	532557		2203	4300	6503	SO:0001819	synonymous_variant	55770				exocytosis|protein transport			g.chr6:532557G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2292C>T	6.37:g.532557G>A						EXOC2_ENST00000448181.3_Silent_p.I359I	p.I764I	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	23	2427	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	764					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	37	c.2292C>T	CCDS34327.1																																																																																				0.393	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		68	322	0	0	0	1	0	68	322				
RSG1	79363	broad.mit.edu	37	1	16558646	16558646	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16558646G>A	ENST00000375599.3	-	5	1093	c.674C>T	c.(673-675)gCc>gTc	p.A225V	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	225	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGCAACGTCGGCCAGCCCAGC	0.692																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(673-675)gCc>gTc		REM2 and RAB-like small GTPase 1							40.0	43.0	42.0					1																	16558646		2203	4300	6503	SO:0001583	missense	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16558646G>A	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.674C>T	1.37:g.16558646G>A	ENSP00000364749:p.Ala225Val						p.A225V	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			5	1093	-			225			Small GTPase-like.		Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	c.674C>T	CCDS171.1	.	.	.	.	.	.	.	.	.	.	G	8.915	0.959659	0.18507	.	.	ENSG00000132881	ENST00000375599	T	0.55930	0.49	5.47	4.55	0.56014	.	0.266187	0.36374	N	0.002626	T	0.31420	0.0796	N	0.14661	0.345	0.33422	D	0.579943	B	0.10296	0.003	B	0.08055	0.003	T	0.33548	-0.9864	10	0.23302	T	0.38	-17.9134	8.8177	0.35007	0.1705:0.0:0.8295:0.0	.	225	Q9BU20	RSG1_HUMAN	V	225	ENSP00000364749:A225V	ENSP00000364749:A225V	A	-	2	0	RSG1	16431233	0.628000	0.27138	0.955000	0.39395	0.459000	0.32528	1.203000	0.32284	2.553000	0.86117	0.655000	0.94253	GCC		0.692	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		32	321	0	0	0	1	0	32	321				
PIK3R4	30849	broad.mit.edu	37	3	130425901	130425901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130425901A>G	ENST00000356763.3	-	11	3169	c.2612T>C	c.(2611-2613)aTg>aCg	p.M871T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	871					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCCTGTGGCATGTTTGGTGG	0.438																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2611-2613)aTg>aCg		phosphoinositide-3-kinase, regulatory subunit 4							132.0	116.0	121.0					3																	130425901		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130425901A>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2612T>C	3.37:g.130425901A>G	ENSP00000349205:p.Met871Thr						p.M871T	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			11	3169	-			871					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2612T>C	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	A	5.512	0.279403	0.10458	.	.	ENSG00000196455	ENST00000356763	T	0.39056	1.1	5.22	4.07	0.47477	.	0.595751	0.18439	N	0.141191	T	0.21468	0.0517	N	0.08118	0	0.23076	N	0.998338	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.15066	T	0.55	-0.4871	10.7844	0.46397	0.9252:0.0:0.0748:0.0	.	871	Q99570	PI3R4_HUMAN	T	871	ENSP00000349205:M871T	ENSP00000349205:M871T	M	-	2	0	PIK3R4	131908591	0.959000	0.32827	0.072000	0.20136	0.684000	0.39900	4.342000	0.59341	0.837000	0.34925	0.377000	0.23210	ATG		0.438	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		6	205	0	0	0	1	0	6	205				
LAMA5	3911	broad.mit.edu	37	20	60927304	60927304	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60927304G>A	ENST00000252999.3	-	4	747	c.681C>T	c.(679-681)aaC>aaT	p.N227N	RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Silent_p.N227N|LAMA5_ENST00000370692.3_Silent_p.N227N|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000477848.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	227	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ccacctctccGTTCTCCAGGG	0.692																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(679-681)aaC>aaT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						47.0	43.0	44.0					20																	60927304		2202	4293	6495	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60927304G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.681C>T	20.37:g.60927304G>A						LAMA5_ENST00000370677.3_Silent_p.N227N|LAMA5_ENST00000370692.3_Silent_p.N227N	p.N227N	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		4	747	-	Breast(26;1.57e-08)		227			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.681C>T	CCDS33502.1																																																																																				0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		45	117	0	0	0	1	0	45	117				
ZNF724P	440519	broad.mit.edu	37	19	23405909	23405909	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23405909T>A	ENST00000418100.1	-	4	1255	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGAGTAAGAGTTGAGGACACG	0.388																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1138-1140)Act>Tct																																						SO:0001583	missense	0							g.chr19:23405909T>A			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1138A>T	19.37:g.23405909T>A	ENSP00000413411:p.Thr380Ser						p.T380S							4	1255	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.1138A>T		.	.	.	.	.	.	.	.	.	.	T	0	-2.742811	0.00087	.	.	ENSG00000196081	ENST00000418100	T	0.07216	3.21	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	.	.	.	0.09310	N	1	B	0.31435	0.323	B	0.17722	0.019	T	0.39440	-0.9614	8	0.02654	T	1	.	5.0468	0.14488	0.0:0.0:0.3038:0.6962	.	380	A8MTY0	ZN724_HUMAN	S	380	ENSP00000413411:T380S	ENSP00000413411:T380S	T	-	1	0	ZNF724P	23197749	0.000000	0.05858	0.053000	0.19242	0.045000	0.14185	-4.059000	0.00303	0.402000	0.25451	0.391000	0.25812	ACT		0.388	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			30	129	0	0	0	1	0	30	129				
ANKRD46	157567	broad.mit.edu	37	8	101541971	101541971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101541971G>A	ENST00000520552.1	-	3	252	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ANKRD46_ENST00000520311.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F|ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	31						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTCCAAAAGCCGCTTGGAA	0.458																																						ENST00000520311.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(91-93)Ctt>Ttt		ankyrin repeat domain 46							84.0	78.0	80.0					8																	101541971		2203	4300	6503	SO:0001583	missense	157567					integral to membrane		g.chr8:101541971G>A	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.91C>T	8.37:g.101541971G>A	ENSP00000429015:p.Leu31Phe					ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F|ANKRD46_ENST00000520552.1_Missense_Mutation_p.L31F	p.L31F	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	894	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		31					Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.91C>T	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222509	0.95139	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-0.29;-0.29	5.6	5.6	0.85130	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.75447	2.3	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.81914	0.934;0.995	D	0.90341	0.4359	10	0.72032	D	0.01	-18.5285	19.6107	0.95606	0.0:0.0:1.0:0.0	.	31;31	Q86W74-2;Q86W74	.;ANR46_HUMAN	F	31	ENSP00000429015:L31F;ENSP00000335287:L31F;ENSP00000430056:L31F;ENSP00000428388:L31F;ENSP00000430827:L31F;ENSP00000351881:L31F;ENSP00000430357:L31F;ENSP00000430800:L31F;ENSP00000429647:L31F	ENSP00000335287:L31F	L	-	1	0	ANKRD46	101611147	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.425000	0.80255	2.648000	0.89879	0.655000	0.94253	CTT		0.458	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		54	299	0	0	0	1	0	54	299				
GSE1	23199	broad.mit.edu	37	16	85689364	85689364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85689364G>T	ENST00000253458.7	+	6	1006	c.830G>T	c.(829-831)aGg>aTg	p.R277M	GSE1_ENST00000405402.2_Missense_Mutation_p.R173M|GSE1_ENST00000393243.1_Missense_Mutation_p.R204M	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	277																	TCTGCCCTGAGGTCCCCGTTC	0.647																																						ENST00000253458.7																			0											c.(829-831)aGg>aTg		Gse1 coiled-coil protein							92.0	80.0	84.0					16																	85689364		2195	4298	6493	SO:0001583	missense	23199							g.chr16:85689364G>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.830G>T	16.37:g.85689364G>T	ENSP00000253458:p.Arg277Met					GSE1_ENST00000405402.2_Missense_Mutation_p.R173M|GSE1_ENST00000393243.1_Missense_Mutation_p.R204M	p.R277M	NM_014615.2	NP_055430.1					6	1006	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.830G>T	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111791|4.111791	0.77210|0.77210	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692|ENST00000405402;ENST00000411612;ENST00000253458;ENST00000393243	.|T;T;T	.|0.41400	.|1.01;1.0;1.05	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64338|0.64338	0.2589|0.2589	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.69094|0.69094	-0.5236|-0.5236	5|10	.|0.87932	.|D	.|0	-26.9258|-26.9258	17.8254|17.8254	0.88664|0.88664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|204;277	.|Q14687-3;Q14687	.|.;GSE1_HUMAN	C|M	84|173;173;277;204	.|ENSP00000384839:R173M;ENSP00000253458:R277M;ENSP00000376934:R204M	.|ENSP00000253458:R277M	G|R	+|+	1|2	0|0	KIAA0182|KIAA0182	84246865|84246865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.450000|9.450000	0.97607|0.97607	2.211000|2.211000	0.71520|0.71520	0.555000|0.555000	0.69702|0.69702	GGT|AGG		0.647	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		50	340	1	0	1.67753e-36	1	2.00853e-36	50	340				
ZNF568	374900	broad.mit.edu	37	19	37427667	37427667	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37427667A>T	ENST00000333987.7	+	5	661	c.155A>T	c.(154-156)gAt>gTt	p.D52V	ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame|ZNF568_ENST00000415168.1_De_novo_Start_OutOfFrame|ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTTAAGGATGTGGCTGTT	0.393																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29								zinc finger protein 568							84.0	86.0	85.0					19																	37427667		2202	4300	6502	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37427667A>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.155A>T	19.37:g.37427667A>T	ENSP00000334685:p.Asp52Val					ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V|ZNF568_ENST00000333987.7_Missense_Mutation_p.D52V|ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame		NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		0	339	+	Esophageal squamous(110;0.183)							B4DS92|E7ER33|Q6N060|Q8NA64	Translation_Start_Site	SNP	ENST00000333987.7	37		CCDS42558.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554855	0.65425	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.12039	2.72;2.72;2.72	4.69	4.69	0.59074	Krueppel-associated box (4);	.	.	.	.	T	0.50205	0.1602	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64909	-0.6296	9	0.87932	D	0	.	10.4605	0.44577	1.0:0.0:0.0:0.0	.	52;52	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	V	52	ENSP00000407012:D52V;ENSP00000334685:D52V;ENSP00000389794:D52V	ENSP00000334685:D52V	D	+	2	0	ZNF568	42119507	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.384000	0.52478	1.959000	0.56917	0.533000	0.62120	GAT		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		50	259	0	0	0	1	0	50	259				
CDC20B	166979	broad.mit.edu	37	5	54442668	54442668	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54442668T>C	ENST00000381375.2	-	3	288	c.143A>G	c.(142-144)aAt>aGt	p.N48S	CDC20B_ENST00000296733.1_Missense_Mutation_p.N48S|CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S|CDC20B_ENST00000334206.5_Missense_Mutation_p.N48S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	48										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATACGTAGCATTAACTGAATC	0.428											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(142-144)aAt>aGt		cell division cycle 20B							70.0	66.0	67.0					5																	54442668		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54442668T>C	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.143A>G	5.37:g.54442668T>C	ENSP00000370781:p.Asn48Ser		OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	CDC20B_ENST00000381375.2_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S|CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000296733.1_Missense_Mutation_p.N48S	p.N48S			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		3	319	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	48					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.143A>G	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	T	4.960	0.178261	0.09443	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;2.31	4.79	0.18	0.15068	.	0.978663	0.08339	N	0.961176	T	0.14614	0.0353	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.34453	-0.9828	10	0.10902	T	0.67	-9.7405	5.6196	0.17450	0.0:0.2196:0.4748:0.3055	.	48;48;48;48	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	S	48;48;48;48;27	ENSP00000335664:N48S;ENSP00000296733:N48S;ENSP00000370781:N48S;ENSP00000315720:N48S;ENSP00000330566:N27S	ENSP00000296733:N48S	N	-	2	0	CDC20B	54478425	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.066000	0.14489	0.137000	0.18759	-0.280000	0.10049	AAT		0.428	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		43	189	0	0	0	1	0	43	189				
TMX2	51075	broad.mit.edu	37	11	57506148	57506148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57506148C>T	ENST00000278422.4	+	5	466	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	C11orf31_ENST00000388857.4_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.R114W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	152	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAACTAGAACGGGACAAGAG	0.473																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(454-456)Cgg>Tgg		thioredoxin-related transmembrane protein 2							157.0	145.0	149.0					11																	57506148		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506148C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.454C>T	11.37:g.57506148C>T	ENSP00000278422:p.Arg152Trp					TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.R114W	p.R152W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			5	466	+			152			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.454C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275613	0.40294	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.03441	3.93;3.93	5.95	5.03	0.67393	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.209158	0.39407	U	0.001366	T	0.11965	0.0291	M	0.67625	2.065	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	P;P	0.58928	0.788;0.848	T	0.00453	-1.1730	10	0.87932	D	0	-11.7709	9.7442	0.40437	0.1413:0.7884:0.0:0.0704	.	114;152	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	114;152	ENSP00000367562:R114W;ENSP00000278422:R152W	ENSP00000278422:R152W	R	+	1	2	TMX2	57262724	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.331000	0.33793	1.495000	0.48549	0.655000	0.94253	CGG		0.473	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		86	444	0	0	0	1	0	86	444				
ZZEF1	23140	broad.mit.edu	37	17	3916785	3916785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3916785G>A	ENST00000381638.2	-	52	8661	c.8537C>T	c.(8536-8538)gCc>gTc	p.A2846V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2846							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TAAGTGGATGGCTTTTAATCG	0.552																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8536-8538)gCc>gTc		zinc finger, ZZ-type with EF-hand domain 1							78.0	67.0	71.0					17																	3916785		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3916785G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8537C>T	17.37:g.3916785G>A	ENSP00000371051:p.Ala2846Val						p.A2846V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			52	8661	-			2846					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8537C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.832956	0.97003	.	.	ENSG00000074755	ENST00000381638	T	0.30182	1.54	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.42498	-0.9448	10	0.87932	D	0	-15.2664	20.3214	0.98679	0.0:0.0:1.0:0.0	.	2846	O43149	ZZEF1_HUMAN	V	2846	ENSP00000371051:A2846V	ENSP00000371051:A2846V	A	-	2	0	ZZEF1	3863534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.804000	0.96469	0.655000	0.94253	GCC		0.552	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		66	253	0	0	0	1	0	66	253				
ALMS1	7840	broad.mit.edu	37	2	73828501	73828501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73828501G>A	ENST00000264448.6	+	19	12160	c.12049G>A	c.(12049-12051)Gca>Aca	p.A4017T	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4017					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGGCTACCTGGCAGGCCCAGG	0.572																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12049-12051)Gca>Aca		Alstrom syndrome 1							38.0	45.0	43.0					2																	73828501		2201	4300	6501	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828501G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12049G>A	2.37:g.73828501G>A	ENSP00000264448:p.Ala4017Thr					ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T|ALMS1_ENST00000464408.2_3'UTR	p.A4017T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			19	12160	+			4017					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12049G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374355	0.61735	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06449	3.3;3.3	5.17	2.11	0.27256	.	0.704599	0.12773	N	0.440361	T	0.13500	0.0327	L	0.43152	1.355	0.09310	N	0.999998	P;D	0.60575	0.746;0.988	B;P	0.60236	0.33;0.871	T	0.12656	-1.0539	10	0.51188	T	0.08	.	9.7807	0.40647	0.0:0.2824:0.5721:0.1455	.	3975;4017	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	T	3975;4017	ENSP00000386627:A3975T;ENSP00000264448:A4017T	ENSP00000264448:A4017T	A	+	1	0	ALMS1	73682009	0.009000	0.17119	0.001000	0.08648	0.094000	0.18550	1.680000	0.37607	0.689000	0.31550	0.561000	0.74099	GCA		0.572	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		121	348	0	0	0	1	0	121	348				
C9orf24	84688	broad.mit.edu	37	9	34379117	34379117	+	3'UTR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34379117G>T	ENST00000297623.2	-	0	1050				C9orf24_ENST00000379127.1_Missense_Mutation_p.P151H|C9orf24_ENST00000481295.1_5'UTR|KIAA1161_ENST00000297625.7_5'Flank|C9orf24_ENST00000379133.3_3'UTR|C9orf24_ENST00000379126.3_Missense_Mutation_p.P98H|C9orf24_ENST00000379124.1_Missense_Mutation_p.P151H	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24						cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CACAAACTCAGGATGGATAAC	0.488											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379124.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(451-453)cCt>cAt		chromosome 9 open reading frame 24							147.0	125.0	132.0					9																	34379117		2203	4300	6503	SO:0001624	3_prime_UTR_variant	84688							g.chr9:34379117G>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.*63C>A	9.37:g.34379117G>T			OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	847	C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379133.3_3'UTR|C9orf24_ENST00000297623.2_3'UTR|C9orf24_ENST00000379127.1_Missense_Mutation_p.P151H|C9orf24_ENST00000379126.3_Missense_Mutation_p.P98H	p.P151H			Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	547	-			57					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	ENST00000297623.2	37	c.452C>A	CCDS6554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334188	0.81801	.	.	ENSG00000164972	ENST00000379126;ENST00000379127;ENST00000379112;ENST00000379124	T;T	0.57907	0.37;0.37	5.01	5.01	0.66863	.	.	.	.	.	T	0.72779	0.3503	.	.	.	0.36652	D	0.877443	D	0.89917	1.0	D	0.91635	0.999	T	0.80082	-0.1531	8	0.87932	D	0	.	15.187	0.73009	0.0:0.0:1.0:0.0	.	98	Q8NCR6-3	.	H	98;151;81;151	ENSP00000368422:P151H;ENSP00000368419:P151H	ENSP00000368407:P81H	P	-	2	0	C9orf24	34369117	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.752000	0.85141	2.605000	0.88082	0.655000	0.94253	CCT		0.488	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		49	218	1	0	2.01807e-28	1	2.34828e-28	49	218				
CRLF1	9244	broad.mit.edu	37	19	18710420	18710420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710420C>T	ENST00000392386.3	-	2	545	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	118	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCGTCACGGGCGTGGCACACG	0.657																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(352-354)Gcc>Acc		cytokine receptor-like factor 1							34.0	34.0	34.0					19																	18710420		2202	4300	6502	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710420C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.352G>A	19.37:g.18710420C>T	ENSP00000376188:p.Ala118Thr						p.A118T	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			2	545	-			118			Ig-like C2-type.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.352G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459657	0.43736	.	.	ENSG00000006016	ENST00000392386	D	0.85629	-2.01	5.23	4.2	0.49525	Immunoglobulin-like fold (1);	0.227351	0.45126	D	0.000381	T	0.67135	0.2861	N	0.14661	0.345	0.29291	N	0.869344	P	0.35226	0.491	B	0.25405	0.06	T	0.62263	-0.6891	10	0.23302	T	0.38	-32.249	9.2979	0.37827	0.0:0.8439:0.0:0.1561	.	118	O75462	CRLF1_HUMAN	T	118	ENSP00000376188:A118T	ENSP00000376188:A118T	A	-	1	0	CRLF1	18571420	0.865000	0.29922	0.862000	0.33874	0.611000	0.37282	1.167000	0.31847	2.449000	0.82847	0.511000	0.50034	GCC		0.657	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			55	211	0	0	0	1	0	55	211				
FNTA	2339	broad.mit.edu	37	8	42932451	42932451	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42932451C>T	ENST00000302279.3	+	6	920	c.726C>T	c.(724-726)ttC>ttT	p.F242F	FNTA_ENST00000529687.1_Silent_p.F91F|FNTA_ENST00000342116.4_Silent_p.F175F|RP11-598P20.5_ENST00000534420.1_Silent_p.F199F	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	242					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAAGATACTTCGTTATTTCTA	0.393																																						ENST00000534420.1																			0											c.(595-597)ttC>ttT									122.0	112.0	115.0					8																	42932451		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr8:42932451C>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.726C>T	8.37:g.42932451C>T						FNTA_ENST00000342116.4_Silent_p.F175F|FNTA_ENST00000529687.1_Silent_p.F91F|FNTA_ENST00000302279.3_Silent_p.F242F	p.199_199insF							6	597	+								A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.597C>T	CCDS6140.1																																																																																				0.393	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		75	319	0	0	0	1	0	75	319				
ADAMTS16	170690	broad.mit.edu	37	5	5239367	5239367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5239367C>T	ENST00000274181.7	+	15	2396	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	753	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTCTCTACACCAAGCACCAC	0.512																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2257-2259)aCc>aTc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							172.0	171.0	171.0					5																	5239367		2063	4214	6277	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239367C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2258C>T	5.37:g.5239367C>T	ENSP00000274181:p.Thr753Ile						p.T753I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			15	2396	+			753			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2258C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612653	0.28712	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.54279	0.58	5.85	4.01	0.46588	ADAM-TS Spacer 1 (1);	0.278678	0.32624	N	0.005843	T	0.56630	0.1998	M	0.73962	2.25	0.19300	N	0.99998	B;B	0.32653	0.379;0.257	B;B	0.35813	0.197;0.211	T	0.53308	-0.8457	10	0.52906	T	0.07	.	15.354	0.74412	0.0:0.7418:0.2582:0.0	.	753;753	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	I	753	ENSP00000274181:T753I	ENSP00000274181:T753I	T	+	2	0	ADAMTS16	5292367	0.959000	0.32827	0.001000	0.08648	0.356000	0.29392	1.085000	0.30840	0.754000	0.32968	0.655000	0.94253	ACC		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		145	474	0	0	0	1	0	145	474				
ARID4B	51742	broad.mit.edu	37	1	235345456	235345456	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235345456A>G	ENST00000264183.3	-	20	3275	c.2778T>C	c.(2776-2778)gaT>gaC	p.D926D	ARID4B_ENST00000349213.3_Silent_p.D840D|ARID4B_ENST00000366603.2_Silent_p.D926D|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	926					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTGACCAGACATCTTTTCGAT	0.423																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2776-2778)gaT>gaC		AT rich interactive domain 4B (RBP1-like)							72.0	77.0	75.0					1																	235345456		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345456A>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2778T>C	1.37:g.235345456A>G						ARID4B_ENST00000349213.3_Silent_p.D840D|ARID4B_ENST00000366603.2_Silent_p.D926D	p.D926D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3275	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	926					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.2778T>C	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	5.644	0.303425	0.10678	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.63	-0.905	0.10527	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-20.0254	10.6774	0.45794	0.5946:0.0:0.4054:0.0	.	.	.	.	T	326	.	.	M	-	2	0	ARID4B	233412079	0.933000	0.31639	0.997000	0.53966	0.997000	0.91878	0.138000	0.16016	-0.170000	0.10816	0.477000	0.44152	ATG		0.423	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		210	567	0	0	0	1	0	210	567				
MYO18A	399687	broad.mit.edu	37	17	27493855	27493855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27493855C>A	ENST00000527372.1	-	2	284	c.104G>T	c.(103-105)aGc>aTc	p.S35I	MYO18A_ENST00000533112.1_Missense_Mutation_p.S35I|MYO18A_ENST00000531253.1_Missense_Mutation_p.S35I|MYO18A_ENST00000354329.4_Missense_Mutation_p.S35I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	35	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCTCCAGGCTCCGAAGCTC	0.537																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(103-105)aGc>aTc		myosin XVIIIA							37.0	46.0	43.0					17																	27493855		2191	4292	6483	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493855C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.104G>T	17.37:g.27493855C>A	ENSP00000437073:p.Ser35Ile					MYO18A_ENST00000533112.1_Missense_Mutation_p.S35I|MYO18A_ENST00000354329.4_Missense_Mutation_p.S35I|MYO18A_ENST00000531253.1_Missense_Mutation_p.S35I	p.S35I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	284	-			35					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.104G>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325852	0.60743	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.89343	-2.39;-2.5;-2.39;-2.39	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.29908	0.895	0.47374	D	0.9994	P;D;D	0.56746	0.944;0.977;0.961	P;P;P	0.54100	0.66;0.742;0.556	D	0.90440	0.4431	10	0.72032	D	0.01	.	17.9578	0.89075	0.0:1.0:0.0:0.0	.	35;35;35	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	I	35	ENSP00000346291:S35I;ENSP00000435932:S35I;ENSP00000434228:S35I;ENSP00000437073:S35I	ENSP00000346291:S35I	S	-	2	0	MYO18A	24517981	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.488000	0.66869	2.578000	0.87016	0.467000	0.42956	AGC		0.537	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		11	42	1	0	3.07112e-06	1	3.16074e-06	11	42				
IFIH1	64135	broad.mit.edu	37	2	163174679	163174679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163174679G>A	ENST00000263642.2	-	1	534	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*|GCA_ENST00000429691.2_5'Flank	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	47	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACTGTCCTCTGAATCTGCTCC	0.562																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(139-141)Cag>Tag		interferon induced with helicase C domain 1							75.0	69.0	71.0					2																	163174679		2203	4300	6503	SO:0001587	stop_gained	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163174679G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.139C>T	2.37:g.163174679G>A	ENSP00000263642:p.Gln47*					IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*	p.Q47*	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			1	534	-			47			CARD 1.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Nonsense_Mutation	SNP	ENST00000263642.2	37	c.139C>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	38	7.112797	0.98070	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	.	.	.	5.73	2.7	0.31948	.	1.140500	0.06335	N	0.706983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.5357	9.8127	0.40833	0.0:0.2537:0.4844:0.2619	.	.	.	.	X	47	.	ENSP00000263642:Q47X	Q	-	1	0	IFIH1	162882925	0.023000	0.18921	0.099000	0.21106	0.515000	0.34225	1.142000	0.31540	0.713000	0.32060	0.655000	0.94253	CAG		0.562	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		81	237	0	0	0	1	0	81	237				
CLEC2L	154790	broad.mit.edu	37	7	139226862	139226862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139226862G>A	ENST00000422142.2	+	4	600	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	176	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CGTTTGATCCGGACACGTGAG	0.552																																						ENST00000422142.2																			0				NS(1)|endometrium(1)|kidney(2)|lung(1)	5						c.(526-528)ccG>ccA		C-type lectin domain family 2, member L							54.0	62.0	59.0					7																	139226862		1974	4163	6137	SO:0001819	synonymous_variant	154790					integral to membrane	sugar binding	g.chr7:139226862G>A	AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"""C-type lectin domain containing"""	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.528G>A	7.37:g.139226862G>A							p.P176P	NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN			4	600	+	Melanoma(164;0.233)		176			C-type lectin.			Silent	SNP	ENST00000422142.2	37	c.528G>A	CCDS47724.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.684991	0.14973	.	.	ENSG00000236279	ENST00000521281	.	.	.	4.44	-8.89	0.00785	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.32012	N	0.601904	.	.	.	.	.	.	T	0.11131	-1.0600	4	.	.	.	-10.2005	2.878	0.05638	0.5044:0.0892:0.2281:0.1784	.	.	.	.	Q	100	.	.	R	+	2	0	CLEC2L	138877402	0.007000	0.16637	0.247000	0.24249	0.869000	0.49853	-2.660000	0.00851	-2.867000	0.00324	-1.166000	0.01754	CGG		0.552	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1	NM_001080511		9	74	0	0	0	1	0	9	74				
ZNF804A	91752	broad.mit.edu	37	2	185803264	185803264	+	Silent	SNP	A	A	G	rs201456176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185803264A>G	ENST00000302277.6	+	4	3735	c.3141A>G	c.(3139-3141)gtA>gtG	p.V1047V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1047							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAAAAATGTACCATGTGAGG	0.458																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(3139-3141)gtA>gtG		zinc finger protein 804A							79.0	74.0	76.0					2																	185803264		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803264A>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3141A>G	2.37:g.185803264A>G							p.V1047V	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3735	+			1047					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3141A>G	CCDS2291.1																																																																																				0.458	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		145	436	0	0	0	1	0	145	436				
GRIA1	2890	broad.mit.edu	37	5	153056565	153056565	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153056565G>A	ENST00000285900.5	+	7	1216	c.873G>A	c.(871-873)gcG>gcA	p.A291A	GRIA1_ENST00000518783.1_Silent_p.A301A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000448073.4_Silent_p.A301A|GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000340592.5_Silent_p.A291A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	291					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)	ACACCTCTGCGCTCACCTACG	0.527																																						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.(871-873)gcG>gcA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						85.0	83.0	83.0					5																	153056565		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153056565G>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.873G>A	5.37:g.153056565G>A						GRIA1_ENST00000518783.1_Silent_p.A301A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000340592.5_Silent_p.A291A|GRIA1_ENST00000448073.4_Silent_p.A301A	p.A291A	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)		7	1216	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	291					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.873G>A	CCDS4322.1																																																																																				0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			69	236	0	0	0	1	0	69	236				
SLC51A	200931	broad.mit.edu	37	3	195959986	195959986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195959986A>G	ENST00000296327.5	+	9	1148	c.939A>G	c.(937-939)acA>acG	p.T313T	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	313					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CTGTGCTGACACGAATGTACT	0.468																																						ENST00000296327.5																			0											c.(937-939)acA>acG		solute carrier family 51, alpha subunit							189.0	164.0	172.0					3																	195959986		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195959986A>G		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.939A>G	3.37:g.195959986A>G						PCYT1A_ENST00000419333.1_Intron	p.T313T	NM_152672.5	NP_689885.4					9	1148	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.939A>G	CCDS3314.1																																																																																				0.468	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		118	572	0	0	0	1	0	118	572				
MSTN	2660	broad.mit.edu	37	2	190924940	190924940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190924940C>A	ENST00000260950.4	-	2	727	c.595G>T	c.(595-597)Ggc>Tgc	p.G199C	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	199					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATACCAGTGCCTGGGTTCATG	0.408																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(595-597)Ggc>Tgc		myostatin							210.0	195.0	200.0					2																	190924940		2203	4300	6503	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190924940C>A	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.595G>T	2.37:g.190924940C>A	ENSP00000260950:p.Gly199Cys					C2orf88_ENST00000478197.1_Intron	p.G199C	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	727	-			199					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.595G>T	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846205	0.71603	.	.	ENSG00000138379	ENST00000260950	T	0.71817	-0.6	5.76	4.83	0.62350	Transforming growth factor-beta, N-terminal (1);	1.956010	0.03705	U	0.249212	D	0.86121	0.5857	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.73959	-0.3818	10	0.87932	D	0	-9.579	16.2783	0.82656	0.0:0.8676:0.1324:0.0	.	199	O14793	GDF8_HUMAN	C	199	ENSP00000260950:G199C	ENSP00000260950:G199C	G	-	1	0	MSTN	190633185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.668000	0.46816	2.718000	0.92993	0.650000	0.86243	GGC		0.408	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		143	653	1	0	1.94422e-76	1	2.48084e-76	143	653				
TRIOBP	11078	broad.mit.edu	37	22	38165063	38165063	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38165063C>T	ENST00000406386.3	+	20	6859	c.6604C>T	c.(6604-6606)Ctg>Ttg	p.L2202L	TRIOBP_ENST00000403663.2_Silent_p.L489L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2202					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAAGCGAGAGCTGCAGGTGCT	0.622																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6604-6606)Ctg>Ttg		TRIO and F-actin binding protein							49.0	55.0	53.0					22																	38165063		2186	4298	6484	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165063C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6604C>T	22.37:g.38165063C>T						TRIOBP_ENST00000403663.2_Silent_p.L489L|RP1-37E16.12_ENST00000455236.1_RNA	p.L2202L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			20	6859	+	Melanoma(58;0.0574)		2202					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.6604C>T	CCDS43015.1																																																																																				0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			53	288	0	0	0	1	0	53	288				
RFTN2	130132	broad.mit.edu	37	2	198460774	198460774	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460774T>C	ENST00000295049.4	-	8	1710	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	392					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ACGATCTGCTTTGTAGCCAAA	0.328																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(1174-1176)Aag>Gag		raftlin family member 2							93.0	85.0	88.0					2																	198460774		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198460774T>C	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1174A>G	2.37:g.198460774T>C	ENSP00000295049:p.Lys392Glu						p.K392E	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			8	1710	-			392					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.1174A>G	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085166	0.36758	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.43688	0.94;0.94	5.34	4.16	0.48862	.	0.277824	0.40222	N	0.001152	T	0.61375	0.2342	M	0.74647	2.275	0.44995	D	0.99801	D	0.89917	1.0	D	0.85130	0.997	T	0.64007	-0.6508	10	0.87932	D	0	-24.6818	9.6555	0.39923	0.1552:0.0:0.0:0.8448	.	392	Q52LD8	RFTN2_HUMAN	E	392;74	ENSP00000295049:K392E;ENSP00000387459:K74E	ENSP00000295049:K392E	K	-	1	0	RFTN2	198169019	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	4.844000	0.62846	1.126000	0.42016	-0.344000	0.07964	AAG		0.328	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		38	217	0	0	0	1	0	38	217				
ATP9B	374868	broad.mit.edu	37	18	77090061	77090061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77090061C>T	ENST00000426216.2	+	17	2002	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V|ATP9B_ENST00000543761.1_5'Flank	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	662					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGACGTGGCCATGTCTCCT	0.468																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(1984-1986)gCc>gTc		ATPase, class II, type 9B							159.0	136.0	144.0					18																	77090061		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77090061C>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1985C>T	18.37:g.77090061C>T	ENSP00000398076:p.Ala662Val					ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V	p.A662V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	17	2002	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	662					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.1985C>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262139	0.01445	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.68765	-0.35;-0.35	5.45	3.61	0.41365	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.106419	0.64402	N	0.000006	T	0.27866	0.0686	N	0.00500	-1.43	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38243	-0.9670	10	0.02654	T	1	.	11.2144	0.48817	0.0:0.8474:0.0:0.1526	.	662;662	O43861;O43861-2	ATP9B_HUMAN;.	V	662	ENSP00000398076:A662V;ENSP00000304500:A662V	ENSP00000304500:A662V	A	+	2	0	ATP9B	75191049	0.006000	0.16342	0.387000	0.26183	0.021000	0.10359	0.127000	0.15790	0.621000	0.30232	0.655000	0.94253	GCC		0.468	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		46	269	0	0	0	1	0	46	269				
FSIP2	401024	broad.mit.edu	37	2	186672574	186672574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186672574G>T	ENST00000424728.1	+	17	18541	c.18541G>T	c.(18541-18543)Gaa>Taa	p.E6181*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E6270*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6181										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATAATAGAAGAAATTGCTGT	0.303																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18808-18810)Gaa>Taa		fibrous sheath interacting protein 2							47.0	42.0	44.0					2																	186672574		1797	4061	5858	SO:0001587	stop_gained	401024							g.chr2:186672574G>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18541G>T	2.37:g.186672574G>T	ENSP00000401306:p.Glu6181*					FSIP2_ENST00000424728.1_Nonsense_Mutation_p.E6181*	p.E6270*	NM_173651.2	NP_775922.2					17	18808	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	ENST00000424728.1	37	c.18808G>T		.	.	.	.	.	.	.	.	.	.	G	57	29.478575	0.99975	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	4.96	3.11	0.35812	.	0.364751	0.23740	N	0.045026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.3689	0.16129	0.1048:0.0:0.6956:0.1996	.	.	.	.	X	6270;6181	.	ENSP00000344403:E6270X	E	+	1	0	FSIP2	186380819	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.229000	0.51278	0.645000	0.30675	0.484000	0.47621	GAA		0.303	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		65	169	1	0	4.13886e-29	1	4.83036e-29	65	169				
PDZRN3	23024	broad.mit.edu	37	3	73433639	73433639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433639C>T	ENST00000263666.4	-	10	2192	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R410H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	693					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGATGCTGCGCAGCTCTTC	0.632																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2077-2079)cGc>cAc		PDZ domain containing ring finger 3							37.0	32.0	34.0					3																	73433639		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433639C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2078G>A	3.37:g.73433639C>T	ENSP00000263666:p.Arg693His					PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R410H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H	p.R693H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2192	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	693					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2078G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189810	0.57909	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.18657	2.2;2.94;2.86;2.86;2.96;2.83	5.01	5.01	0.66863	.	0.053685	0.85682	D	0.000000	T	0.25606	0.0623	L	0.52206	1.635	0.80722	D	1	P;B;B;B	0.45283	0.855;0.163;0.373;0.163	P;B;B;B	0.46144	0.505;0.021;0.066;0.021	T	0.01159	-1.1433	10	0.49607	T	0.09	.	11.4627	0.50219	0.0:0.9168:0.0:0.0832	.	415;410;410;693	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	693;415;350;350;410;391	ENSP00000263666:R693H;ENSP00000442026:R415H;ENSP00000418168:R350H;ENSP00000418484:R350H;ENSP00000418624:R410H;ENSP00000419250:R391H	ENSP00000263666:R693H	R	-	2	0	PDZRN3	73516329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.866000	0.69590	2.324000	0.78689	0.655000	0.94253	CGC		0.632	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		52	229	0	0	0	1	0	52	229				
DCDC1	341019	broad.mit.edu	37	11	31115709	31115709	+	Missense_Mutation	SNP	T	T	C	rs538793008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31115709T>C	ENST00000597505.1	-	14	2005	c.2006A>G	c.(2005-2007)cAt>cGt	p.H669R	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	84					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AACAGAGGCATGAAGGACAAT	0.433																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(2005-2007)cAt>cGt		doublecortin domain containing 1							107.0	111.0	110.0					11																	31115709		2065	4227	6292	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31115709T>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2006A>G	11.37:g.31115709T>C	ENSP00000472625:p.His669Arg					DCDC1_ENST00000437348.1_5'UTR	p.H669R			P59894	DCDC1_HUMAN			14	2005	-	Lung SC(675;0.225)		84					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.2006A>G																																																																																					0.433	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		66	282	0	0	0	1	0	66	282				
ISYNA1	51477	broad.mit.edu	37	19	18547207	18547207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18547207G>A	ENST00000338128.8	-	6	909	c.692C>T	c.(691-693)aCg>aTg	p.T231M	ISYNA1_ENST00000457269.4_Missense_Mutation_p.T177M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000545187.1_Missense_Mutation_p.T81M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	231					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GAAGCGCTCCGTGTTCGCCGT	0.627																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(241-243)aCg>aTg		inositol-3-phosphate synthase 1							103.0	93.0	96.0					19																	18547207		2203	4300	6503	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18547207G>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.692C>T	19.37:g.18547207G>A	ENSP00000337746:p.Thr231Met					ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M|ISYNA1_ENST00000338128.7_Missense_Mutation_p.T231M|ISYNA1_ENST00000457269.3_Missense_Mutation_p.T177M	p.T81M			Q9NPH2	INO1_HUMAN			3	528	-			231					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.242C>T	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980764	0.18812	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	3.88	2.83	0.33086	NAD(P)-binding domain (1);	0.060310	0.64402	N	0.000005	D	0.86826	0.6026	H	0.98388	4.22	0.48975	D	0.999736	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.87914	0.2699	9	0.87932	D	0	-22.5749	9.041	0.36319	0.1123:0.0:0.8877:0.0	.	29;177;231;81	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	M	231;177;81;29	.	ENSP00000315147:T29M	T	-	2	0	ISYNA1	18408207	1.000000	0.71417	0.573000	0.28510	0.227000	0.25037	5.807000	0.69157	0.970000	0.38263	0.457000	0.33378	ACG		0.627	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		97	418	0	0	0	1	0	97	418				
NUTM1	256646	broad.mit.edu	37	15	34640500	34640500	+	Missense_Mutation	SNP	C	C	T	rs199644358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34640500C>T	ENST00000333756.4	+	2	502	c.347C>T	c.(346-348)tCg>tTg	p.S116L	NUTM1_ENST00000537011.1_Missense_Mutation_p.S144L|NUTM1_ENST00000438749.3_Missense_Mutation_p.S134L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	116	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCCTCAATTCGACTGCCCCG	0.542																																						ENST00000537011.1																			0											c.(430-432)tCg>tTg		NUT midline carcinoma, family member 1							57.0	54.0	55.0					15																	34640500		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34640500C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.347C>T	15.37:g.34640500C>T	ENSP00000329448:p.Ser116Leu					NUTM1_ENST00000333756.4_Missense_Mutation_p.S116L|NUTM1_ENST00000438749.3_Missense_Mutation_p.S134L	p.S144L							3	813	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.431C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648370	0.29336	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.21932	1.98;1.98;1.98	5.69	4.78	0.61160	Nuclear Testis  protein, N-terminal (1);	0.233256	0.31221	N	0.008030	T	0.10551	0.0258	N	0.08118	0	0.22081	N	0.999373	B;B;B	0.31227	0.223;0.314;0.223	B;B;B	0.22753	0.041;0.024;0.028	T	0.18085	-1.0348	10	0.35671	T	0.21	.	12.7825	0.57485	0.0:0.1677:0.8323:0.0	.	134;144;116	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	L	144;134;116;116	ENSP00000444896:S144L;ENSP00000407031:S134L;ENSP00000329448:S116L	ENSP00000329448:S116L	S	+	2	0	C15orf55	32427792	1.000000	0.71417	0.392000	0.26245	0.480000	0.33159	3.191000	0.50981	1.414000	0.47017	-0.147000	0.13772	TCG		0.542	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		54	275	0	0	0	1	0	54	275				
TYW5	129450	broad.mit.edu	37	2	200820134	200820134	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200820134C>T	ENST00000354611.4	-	1	325	c.60G>A	c.(58-60)atG>atA	p.M20I	C2orf47_ENST00000392290.1_5'Flank|TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_3'UTR|C2orf47_ENST00000295079.2_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	20					wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						AGAGGTGCTGCATGAACTGCT	0.622																																						ENST00000354611.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						c.(58-60)atG>atA		tRNA-yW synthesizing protein 5							29.0	33.0	32.0					2																	200820134		1942	4144	6086	SO:0001583	missense	129450				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding	g.chr2:200820134C>T	AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 60"""	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.60G>A	2.37:g.200820134C>T	ENSP00000346627:p.Met20Ile					TYW5_ENST00000452512.2_5'UTR|C2orf47_ENST00000295079.2_Intron|C2orf69_ENST00000491721.1_3'UTR	p.M20I	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN			1	325	-			20					B2RNE3|Q8N1R2	Missense_Mutation	SNP	ENST00000354611.4	37	c.60G>A	CCDS42795.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146499	0.21288	.	.	ENSG00000162971	ENST00000354611	T	0.22134	1.97	5.65	1.73	0.24493	.	0.243441	0.27531	N	0.018948	T	0.04998	0.0134	N	0.00729	-1.24	0.50313	D	0.999866	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.0	T	0.28618	-1.0038	10	0.19590	T;T	0.45;0.45	0.0457	5.8009	0.18414	0.0:0.5295:0.2576:0.2129	.	20;20	A8KAJ9;A2RUC4	.;TYW5_HUMAN	I	20	ENSP00000346627:M20I	ENSP00000346627:M20I;ENSP00000346627:M20I	M	-	3	0	TYW5	200528379	0.000000	0.05858	0.017000	0.16124	0.076000	0.17211	-0.496000	0.06436	0.146000	0.19002	0.655000	0.94253	ATG		0.622	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256144.3	NM_001039693		8	111	0	0	0	1	0	8	111				
CYP4F12	66002	broad.mit.edu	37	19	15791241	15791241	+	Missense_Mutation	SNP	G	G	A	rs201727887	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791241G>A	ENST00000550308.1	+	5	817	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R146H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	146					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.R146H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AAGTGGAGCCGCCACCGTCGG	0.552													.|||	8	0.00159744	0.003	0.0	5008	,	,		18381	0.004		0.0	False		,,,				2504	0.0					ENST00000550308.1																			1	Substitution - Missense(1)	p.R146H(1)	large_intestine(1)	NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(436-438)cGc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 12		G	HIS/ARG	7,4397		0,7,2195	26.0	30.0	29.0		437	-3.0	0.0	19		29	2,8592		0,2,4295	no	missense	CYP4F12	NM_023944.3	29	0,9,6490	AA,AG,GG		0.0233,0.1589,0.0692	benign	146/525	15791241	9,12989	2202	4297	6499	SO:0001583	missense	66002							g.chr19:15791241G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.437G>A	19.37:g.15791241G>A	ENSP00000448998:p.Arg146His					CYP4F12_ENST00000324632.9_Missense_Mutation_p.R146H	p.R146H	NM_023944.3	NP_076433.3					5	817	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.437G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	3.972	-0.008247	0.07727	0.001589	2.33E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69306	-0.39;-0.39	2.92	-2.95	0.05564	.	0.171432	0.39475	N	0.001360	T	0.54983	0.1892	L	0.53249	1.67	0.22693	N	0.998841	B;B	0.28439	0.212;0.031	B;B	0.32465	0.146;0.04	T	0.50575	-0.8812	10	0.44086	T	0.13	.	7.658	0.28386	0.5238:0.0:0.4762:0.0	.	146;146	B4E270;Q9HCS2	.;CP4FC_HUMAN	H	146	ENSP00000448998:R146H;ENSP00000321821:R146H	ENSP00000321821:R146H	R	+	2	0	CYP4F12	15652241	0.000000	0.05858	0.020000	0.16555	0.049000	0.14656	-0.517000	0.06275	-0.303000	0.08856	-0.458000	0.05436	CGC		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			11	272	0	0	0	1	0	11	272				
KIAA1217	56243	broad.mit.edu	37	10	24832433	24832433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24832433C>T	ENST00000376454.3	+	19	4264	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.Q1095*|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1412					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAGACATACAGACGGTTAA	0.473																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3283-3285)Cag>Tag		KIAA1217							82.0	79.0	80.0					10																	24832433		2203	4300	6503	SO:0001587	stop_gained	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832433C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4234C>T	10.37:g.24832433C>T	ENSP00000365637:p.Gln1412*					KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Q1412*|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron	p.Q1095*			Q5T5P2	SKT_HUMAN			14	3543	+			1412					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	ENST00000376454.3	37	c.3283C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	40	8.491585	0.98834	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.7465	0.96253	0.0:1.0:0.0:0.0	.	.	.	.	X	1095;1412;1095;1095	.	ENSP00000365634:Q1095X	Q	+	1	0	KIAA1217	24872439	1.000000	0.71417	0.959000	0.39883	0.148000	0.21650	7.480000	0.81109	2.680000	0.91292	0.561000	0.74099	CAG		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		54	258	0	0	0	1	0	54	258				
NTNG2	84628	broad.mit.edu	37	9	135105980	135105980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135105980G>A	ENST00000393229.3	+	5	1828	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000360670.3_Intron|NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	351					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTTCCTTTGGCAGTAAGTAC	0.632																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1051-1053)gGc>gAc		netrin G2							36.0	36.0	36.0					9																	135105980		2202	4298	6500	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135105980G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1052G>A	9.37:g.135105980G>A	ENSP00000376921:p.Gly351Asp					NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D|NTNG2_ENST00000360670.3_Intron	p.G351D	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	5	1828	+			351					Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.1052G>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635952	0.67130	.	.	ENSG00000196358	ENST00000393229;ENST00000372179	T;T	0.69806	0.84;-0.43	5.07	5.07	0.68467	.	.	.	.	.	T	0.63581	0.2523	M	0.66939	2.045	0.34114	D	0.663338	B	0.31125	0.309	B	0.26770	0.073	T	0.72154	-0.4376	9	0.37606	T	0.19	.	13.9321	0.64003	0.0:0.0:1.0:0.0	.	351	Q96CW9	NTNG2_HUMAN	D	351	ENSP00000376921:G351D;ENSP00000361252:G351D	ENSP00000361252:G351D	G	+	2	0	NTNG2	134095801	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.180000	0.58296	2.353000	0.79882	0.556000	0.70494	GGC		0.632	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		10	57	0	0	0	1	0	10	57				
ALPK2	115701	broad.mit.edu	37	18	56246527	56246527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56246527G>A	ENST00000361673.3	-	4	1694	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	494						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCATCTCTGTCTCTCTTAC	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1480-1482)aCa>aTa		alpha-kinase 2							153.0	154.0	154.0					18																	56246527		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246527G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1481C>T	18.37:g.56246527G>A	ENSP00000354991:p.Thr494Ile		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.T494I	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1694	-			494					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1481C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943255	0.18281	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	3.35	-4.88	0.03113	.	2.060150	0.02265	N	0.067870	T	0.29423	0.0733	L	0.39898	1.24	0.09310	N	1	B	0.31256	0.316	B	0.26202	0.067	T	0.15607	-1.0431	10	0.56958	D	0.05	-0.0428	3.7053	0.08398	0.1041:0.1574:0.5208:0.2177	.	494	Q86TB3	ALPK2_HUMAN	I	494	ENSP00000354991:T494I	ENSP00000354991:T494I	T	-	2	0	ALPK2	54397507	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.096000	0.11059	-1.184000	0.02720	-0.181000	0.13052	ACA		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		135	532	0	0	0	1	0	135	532				
ADAMTS17	170691	broad.mit.edu	37	15	100739611	100739611	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100739611C>A	ENST00000268070.4	-	8	1198	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	365	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTGCACACACCTCCTAAGTAA	0.522																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(1093-1095)Ggt>Tgt		ADAM metallopeptidase with thrombospondin type 1 motif, 17							279.0	226.0	244.0					15																	100739611		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100739611C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1093G>T	15.37:g.100739611C>A	ENSP00000268070:p.Gly365Cys					ADAMTS17_ENST00000559976.1_5'UTR	p.G365C	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	8	1198	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		365			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.1093G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638920	0.87760	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.89343	-2.5	5.55	5.55	0.83447	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	19.5283	0.95215	0.0:1.0:0.0:0.0	.	122;365	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	C	365;122	ENSP00000268070:G365C	ENSP00000268070:G365C	G	-	1	0	ADAMTS17	98557134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.918000	0.75788	2.596000	0.87737	0.655000	0.94253	GGT		0.522	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		122	536	1	0	3.50788e-48	1	4.32678e-48	122	536				
ERCC3	2071	broad.mit.edu	37	2	128050320	128050320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128050320C>T	ENST00000285398.2	-	3	431	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	ERCC3_ENST00000493187.2_Missense_Mutation_p.V49M	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	113					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACTCATGCACATGGGTTGGT	0.507			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(145-147)Gtg>Atg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							117.0	103.0	108.0					2																	128050320		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128050320C>T	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.337G>A	2.37:g.128050320C>T	ENSP00000285398:p.Val113Met					ERCC3_ENST00000285398.2_Missense_Mutation_p.V113M	p.V49M			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	608	-	Colorectal(110;0.1)		113					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.145G>A	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085569	0.36758	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.74002	-0.8;-0.8	4.77	4.77	0.60923	.	0.307501	0.31847	N	0.006968	T	0.56016	0.1957	N	0.21194	0.64	0.33026	D	0.529526	B	0.18461	0.028	B	0.22386	0.039	T	0.57159	-0.7859	10	0.24483	T	0.36	-26.3485	5.6572	0.17648	0.0:0.7656:0.0:0.2344	.	113	P19447	ERCC3_HUMAN	M	113;49	ENSP00000285398:V113M;ENSP00000444796:V49M	ENSP00000285398:V113M	V	-	1	0	ERCC3	127766790	0.416000	0.25424	1.000000	0.80357	0.997000	0.91878	1.073000	0.30691	2.475000	0.83589	0.650000	0.86243	GTG		0.507	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		91	293	0	0	0	1	0	91	293				
RPE	6120	broad.mit.edu	37	2	210882204	210882204	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210882204G>T	ENST00000359429.6	+	5	582	c.485G>T	c.(484-486)tGg>tTg	p.W162L	RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000540255.1_Intron|RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000452025.1_Missense_Mutation_p.W162L	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	162					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TAGGTTCACTGGTTGAGGACC	0.453																																						ENST00000359429.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9						c.(484-486)tGg>tTg		ribulose-5-phosphate-3-epimerase							122.0	115.0	118.0					2																	210882204		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210882204G>T		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.485G>T	2.37:g.210882204G>T	ENSP00000352401:p.Trp162Leu					RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000540255.1_Intron|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000452025.1_Missense_Mutation_p.W162L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L	p.W162L	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	5	582	+			162					A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.485G>T	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007901	0.35415	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.34	5.34	0.76211	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	N	0.24115	0.695	0.80722	D	1	D;B;B;B	0.60160	0.987;0.002;0.001;0.001	P;B;B;B	0.61275	0.886;0.01;0.006;0.003	T	0.51434	-0.8706	9	0.11182	T	0.66	.	19.0147	0.92889	0.0:0.0:1.0:0.0	.	132;154;162;162	B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	L	162;112;94;112;112;112;94;94;94;162;94;94;162;154	.	ENSP00000346501:W154L	W	+	2	0	RPE	210590449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.438000	0.97539	2.654000	0.90174	0.655000	0.94253	TGG		0.453	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		70	286	1	0	3.89499e-28	1	4.52561e-28	70	286				
RARS2	57038	broad.mit.edu	37	6	88240658	88240658	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240658A>C	ENST00000369536.5	-	9	660	c.615T>G	c.(613-615)gtT>gtG	p.V205V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	205					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTTGTACATAAACCTAAAAGT	0.358																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(613-615)gtT>gtG		arginyl-tRNA synthetase 2, mitochondrial							110.0	108.0	109.0					6																	88240658		2203	4300	6503	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240658A>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.615T>G	6.37:g.88240658A>C							p.V205V	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	660	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	205					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.615T>G	CCDS5011.1																																																																																				0.358	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		49	205	0	0	0	1	0	49	205				
RIMS2	9699	broad.mit.edu	37	8	104922756	104922756	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104922756A>C	ENST00000262231.10	+	3	1504	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	642					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATAGTGATAAGGTACTGAGA	0.438										HNSCC(12;0.0054)																												ENST00000262231.10																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.e3+1		regulating synaptic membrane exocytosis 2							40.0	38.0	38.0					8																	104922756		876	1991	2867	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922756A>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000262231.10:c.1257+1A>C	8.37:g.104922756A>C		HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron	p.K419_splice			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	1504	+			642					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	SNP	ENST00000262231.10	37	c.1257_splice		.	.	.	.	.	.	.	.	.	.	A	11.14	1.549817	0.27652	.	.	ENSG00000176406	ENST00000402998;ENST00000262231	T	0.17691	2.26	4.78	4.78	0.61160	.	.	.	.	.	T	0.14700	0.0355	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.13407	0.009	T	0.05007	-1.0912	8	0.28530	T	0.3	.	14.6056	0.68475	1.0:0.0:0.0:0.0	.	419	Q9UQ26-1	.	T	642;419	ENSP00000262231:K419T	ENSP00000262231:K419T	K	+	2	0	RIMS2	104991932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.223000	0.95203	1.910000	0.55303	0.528000	0.53228	AAG		0.438	RIMS2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000367214.5	NM_001100117	Missense_Mutation	14	137	0	0	0	1	0	14	137				
CLUH	23277	broad.mit.edu	37	17	2600078	2600078	+	Missense_Mutation	SNP	C	C	T	rs553038940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2600078C>T	ENST00000570628.2	-	11	2111	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	CLUH_ENST00000435359.1_Missense_Mutation_p.S669N|CLUH_ENST00000538975.1_Missense_Mutation_p.S669N			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	669					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GCTGGCGCTGCTACCCTCCTC	0.657																																						ENST00000570628.1																			0											c.(2005-2007)aGc>aAc		clustered mitochondria (cluA/CLU1) homolog							47.0	52.0	50.0					17																	2600078		2077	4209	6286	SO:0001583	missense	23277							g.chr17:2600078C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2006G>A	17.37:g.2600078C>T	ENSP00000458986:p.Ser669Asn					CLUH_ENST00000538975.1_Missense_Mutation_p.S669N|CLUH_ENST00000435359.1_Missense_Mutation_p.S669N|CLUH_ENST00000575014.1_Missense_Mutation_p.S601N	p.S669N							11	2111	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.2006G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	6.116	0.389678	0.11581	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80566	-1.39;-1.39	4.93	4.93	0.64822	.	0.703229	0.15947	N	0.236886	T	0.66307	0.2776	N	0.25647	0.755	0.20703	N	0.999864	B;B	0.14012	0.002;0.009	B;B	0.08055	0.003;0.003	T	0.49093	-0.8975	10	0.29301	T	0.29	.	6.5436	0.22394	0.1837:0.7193:0.0:0.097	.	669;669	O75153;C9J6D7	K0664_HUMAN;.	N	669	ENSP00000388872:S669N;ENSP00000439628:S669N	ENSP00000320468:S669N	S	-	2	0	KIAA0664	2546828	0.138000	0.22547	0.133000	0.22050	0.058000	0.15608	3.160000	0.50739	2.673000	0.90976	0.591000	0.81541	AGC		0.657	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		55	219	0	0	0	1	0	55	219				
ANK1	286	broad.mit.edu	37	8	41571725	41571725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41571725G>A	ENST00000347528.4	-	16	1832	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ANK1_ENST00000396942.1_Silent_p.D583D|ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D|ANK1_ENST00000379758.2_Silent_p.D583D|ANK1_ENST00000289734.7_Silent_p.D583D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	583	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTTGACGATGTCCAGGTTGT	0.662																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1747-1749)gaC>gaT		ankyrin 1, erythrocytic							27.0	30.0	29.0					8																	41571725		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41571725G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1749C>T	8.37:g.41571725G>A						ANK1_ENST00000289734.7_Silent_p.D583D|ANK1_ENST00000347528.4_Silent_p.D583D|ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000379758.2_Silent_p.D583D	p.D583D			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		16	1832	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	583			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1749C>T	CCDS6119.1																																																																																				0.662	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		18	97	0	0	0	1	0	18	97				
NLGN1	22871	broad.mit.edu	37	3	173997160	173997160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173997160C>A	ENST00000457714.1	+	6	1798	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M|NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	474					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAAGACATTACTGGCTTTGTT	0.448																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1369-1371)Ctg>Atg		neuroligin 1							101.0	97.0	99.0					3																	173997160		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997160C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1369C>A	3.37:g.173997160C>A	ENSP00000392500:p.Leu457Met					NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M|NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M	p.L457M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1798	+	Ovarian(172;0.0025)		474					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1369C>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568022	0.28003	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.89	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.58977	0.2160	L	0.28458	0.855	0.52501	D	0.99995	P;P	0.36712	0.566;0.516	B;B	0.44163	0.403;0.443	T	0.53012	-0.8498	10	0.44086	T	0.13	.	9.8156	0.40851	0.0:0.2601:0.0:0.7399	.	497;457	D2X2H5;Q8N2Q7-2	.;.	M	457;457;457;497	ENSP00000392500:L457M;ENSP00000354541:L457M;ENSP00000441108:L457M;ENSP00000385750:L497M	ENSP00000354541:L457M	L	+	1	2	NLGN1	175479854	0.479000	0.25925	0.985000	0.45067	0.984000	0.73092	0.071000	0.14594	0.164000	0.19529	-0.360000	0.07572	CTG		0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		90	397	1	0	1.80454e-33	1	2.13885e-33	90	397				
RPL4	6124	broad.mit.edu	37	15	66791951	66791951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66791951C>T	ENST00000307961.6	-	10	1170	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000566658.1_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.A266T|SNAPC5_ENST00000395589.2_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|SNAPC5_ENST00000307979.7_5'Flank|MIR4512_ENST00000583257.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	360					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAGTGCCGCTGCTGCA	0.478																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1078-1080)Gca>Aca		ribosomal protein L4							32.0	36.0	35.0					15																	66791951		2197	4288	6485	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66791951C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1078G>A	15.37:g.66791951C>T	ENSP00000311430:p.Ala360Thr					RPL4_ENST00000568588.1_Missense_Mutation_p.A266T	p.A360T	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			10	1170	-			360					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.1078G>A	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154500	0.06544	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	2.03	2.03	0.26663	.	0.606515	0.15758	N	0.246053	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	9	0.18276	T	0.48	0.0827	4.5628	0.12168	0.0:0.6969:0.0:0.3031	.	360	P36578	RL4_HUMAN	T	360	.	ENSP00000311430:A360T	A	-	1	0	RPL4	64579005	0.024000	0.19004	0.023000	0.16930	0.045000	0.14185	1.306000	0.33505	1.048000	0.40298	0.313000	0.20887	GCA		0.478	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		19	284	0	0	0	1	0	19	284				
CNOT4	4850	broad.mit.edu	37	7	135095279	135095279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135095279C>T	ENST00000315544.5	-	7	1086	c.807G>A	c.(805-807)ctG>ctA	p.L269L	CNOT4_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000428680.2_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000414802.1_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	269					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CATACCTCTGCAGTGGTGTCA	0.318																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(805-807)ctG>ctA		CCR4-NOT transcription complex, subunit 4							128.0	127.0	128.0					7																	135095279		1867	4094	5961	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135095279C>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.807G>A	7.37:g.135095279C>T						CNOT4_ENST00000414802.1_Silent_p.L269L|CNOT4_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000315544.5_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L	p.L269L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			7	1086	-			269					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.807G>A	CCDS55166.1																																																																																				0.318	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		55	343	0	0	0	1	0	55	343				
RFPL1	5988	broad.mit.edu	37	22	29835141	29835141	+	Missense_Mutation	SNP	C	C	T	rs142648482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29835141C>T	ENST00000354373.2	+	1	570	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	121	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCCAAGGATGCGGAAGTTCCA	0.517													-|||	3	0.000599042	0.0015	0.0	5008	,	,		19438	0.001		0.0	False		,,,				2504	0.0					ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(361-363)Cgg>Tgg		ret finger protein-like 1		C	TRP/ARG	16,4390		0,16,2187	122.0	116.0	118.0		361	-2.0	0.0	22	dbSNP_134	118	0,8600		0,0,4300	yes	missense	RFPL1	NM_021026.2	101	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	probably-damaging	121/318	29835141	16,12990	2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29835141C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.361C>T	22.37:g.29835141C>T	ENSP00000346342:p.Arg121Trp					RFPL1S_ENST00000461286.2_RNA	p.R121W	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	570	+			121			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.361C>T	CCDS13857.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	-	12.19	1.864452	0.32977	0.003631	0.0	ENSG00000128250	ENST00000354373	T	0.29397	1.57	1.66	-1.98	0.07480	Concanavalin A-like lectin/glucanase (1);RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.21881	0.0527	L	0.41824	1.3	0.09310	N	1	P	0.38863	0.65	B	0.40565	0.333	T	0.17471	-1.0368	9	0.66056	D	0.02	.	2.496	0.04621	0.2789:0.5142:0.0:0.2068	.	121	O75677	RFPL1_HUMAN	W	121	ENSP00000346342:R121W	ENSP00000346342:R121W	R	+	1	2	RFPL1	28165141	0.000000	0.05858	0.001000	0.08648	0.503000	0.33858	-1.324000	0.02690	-0.584000	0.05913	0.418000	0.28097	CGG		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		13	640	0	0	0	1	0	13	640				
MPDZ	8777	broad.mit.edu	37	9	13125244	13125244	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13125244G>T	ENST00000319217.7	-	35	5025	c.4778C>A	c.(4777-4779)tCt>tAt	p.S1593Y	MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000541093.1_De_novo_Start_OutOfFrame|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1593					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGGGAGCCAGACTGTGGGAC	0.537																																						ENST00000541093.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61								multiple PDZ domain protein							115.0	113.0	114.0					9																	13125244		1902	4118	6020	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13125244G>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4778C>A	9.37:g.13125244G>T	ENSP00000320006:p.Ser1593Tyr					MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000319217.7_Missense_Mutation_p.S1593Y				O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	0	484	-								A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Translation_Start_Site	SNP	ENST00000319217.7	37			.	.	.	.	.	.	.	.	.	.	G	16.97	3.268140	0.59540	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.17213	2.7;2.67;2.67;2.29;2.6;2.63;2.68;2.72;2.7;2.71	4.93	4.93	0.64822	.	0.369947	0.19770	N	0.106464	T	0.28300	0.0699	L	0.38175	1.15	0.80722	D	1	P;B;B;P;D;P;B	0.61697	0.828;0.008;0.356;0.892;0.99;0.892;0.228	P;B;B;P;P;P;B	0.56700	0.521;0.023;0.187;0.714;0.804;0.714;0.181	T	0.00964	-1.1498	10	0.42905	T	0.14	.	18.3346	0.90283	0.0:0.0:1.0:0.0	.	1560;452;298;1560;1473;1593;1593	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	Y	1593;1593;1593;162;529;452;1560;1560;1593;1473;1607	ENSP00000320006:S1593Y;ENSP00000439807:S1593Y;ENSP00000370410:S1593Y;ENSP00000415964:S162Y;ENSP00000444230:S529Y;ENSP00000444717:S452Y;ENSP00000444151:S1560Y;ENSP00000415208:S1560Y;ENSP00000370403:S1593Y;ENSP00000446358:S1607Y	ENSP00000320006:S1593Y	S	-	2	0	MPDZ	13115244	0.391000	0.25221	0.007000	0.13788	0.398000	0.30690	4.342000	0.59341	2.564000	0.86499	0.650000	0.86243	TCT		0.537	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		74	366	1	0	8.06533e-24	1	9.18926e-24	74	366				
TUBD1	51174	broad.mit.edu	37	17	57963577	57963577	+	Missense_Mutation	SNP	C	C	T	rs368636067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57963577C>T	ENST00000592426.1	-	2	187	c.187G>A	c.(187-189)Gct>Act	p.A63T	TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000325752.3_Missense_Mutation_p.A63T|TUBD1_ENST00000591611.1_5'UTR			Q9UJT1	TBD_HUMAN	tubulin, delta 1	63					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	ACAAGAACAGCCCGGGCAATT	0.413																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(187-189)Gct>Act		tubulin, delta 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,,	0,4406		0,0,2203	71.0	68.0	69.0		187,187,187,187,,	6.1	1.0	17		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,utr-5,intron	TUBD1	NM_001193609.1,NM_001193610.1,NM_001193611.1,NM_016261.3,NM_001193612.1,NM_001193613.1	58,58,58,58,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	63/399,63/397,63/352,63/454,,	57963577	1,13005	2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57963577C>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.187G>A	17.37:g.57963577C>T	ENSP00000468518:p.Ala63Thr					TUBD1_ENST00000592426.1_Missense_Mutation_p.A63T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T|TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T	p.A63T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		3	464	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		63					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.187G>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970893	0.92919	0.0	1.16E-4	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.047647	0.85682	D	0.000000	D	0.86818	0.6024	M	0.84585	2.705	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.984;0.987;0.99	D;P;P;D	0.73380	0.98;0.85;0.901;0.94	D	0.87265	0.2282	10	0.87932	D	0	-20.964	20.6634	0.99662	0.0:1.0:0.0:0.0	.	63;63;63;63	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	T	63	ENSP00000320797:A63T;ENSP00000342399:A63T;ENSP00000377785:A63T;ENSP00000365262:A63T	ENSP00000320797:A63T	A	-	1	0	TUBD1	55318359	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.416000	0.59815	2.894000	0.99253	0.655000	0.94253	GCT		0.413	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		25	253	0	0	0	1	0	25	253				
TMEM8A	58986	broad.mit.edu	37	16	426714	426714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:426714G>A	ENST00000431232.2	-	5	894	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	245					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGGGTGACCGGGCCCACGGT	0.692																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(733-735)cCg>cTg		transmembrane protein 8A							22.0	25.0	24.0					16																	426714		2197	4294	6491	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:426714G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.734C>T	16.37:g.426714G>A	ENSP00000401338:p.Pro245Leu					TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L	p.P245L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			5	894	-			245					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.734C>T	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	9.023	0.985263	0.18889	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.31769	1.92;1.48	4.1	-1.8	0.07907	.	1.025100	0.07779	N	0.953031	T	0.21468	0.0517	L	0.38175	1.15	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.28522	-1.0041	10	0.40728	T	0.16	-16.4183	6.0529	0.19794	0.3762:0.1241:0.4997:0.0	.	245	Q9HCN3	TMM8A_HUMAN	L	245;52	ENSP00000401338:P245L;ENSP00000250930:P52L	ENSP00000250930:P52L	P	-	2	0	TMEM8A	366715	0.767000	0.28508	0.016000	0.15963	0.693000	0.40251	0.980000	0.29513	-0.539000	0.06273	0.305000	0.20034	CCG		0.692	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		23	161	0	0	0	1	0	23	161				
HRNR	388697	broad.mit.edu	37	1	152192138	152192138	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192138G>T	ENST00000368801.2	-	3	2042	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	656					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGGCCAGATCCAGAGCC	0.587																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1966-1968)tCt>tAt		hornerin							163.0	173.0	169.0					1																	152192138		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192138G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1967C>A	1.37:g.152192138G>T	ENSP00000357791:p.Ser656Tyr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S656Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2042	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		656					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1967C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.898	0.535292	0.13188	.	.	ENSG00000197915	ENST00000368801	T	0.05447	3.44	4.05	3.1	0.35709	.	.	.	.	.	T	0.06005	0.0156	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.28964	-1.0027	9	0.56958	D	0.05	.	9.3797	0.38306	0.0:0.219:0.781:0.0	.	656	Q86YZ3	HORN_HUMAN	Y	656	ENSP00000357791:S656Y	ENSP00000357791:S656Y	S	-	2	0	HRNR	150458762	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.274000	0.18680	0.864000	0.35578	0.644000	0.83932	TCT		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		195	1283	1	0	6.4993e-71	1	8.25884e-71	195	1283				
GPC5	2262	broad.mit.edu	37	13	93518645	93518645	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:93518645A>T	ENST00000377067.3	+	8	2044	c.1672A>T	c.(1672-1674)Aca>Tca	p.T558S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	558					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGAATCTATGACATTCACTCT	0.428																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1672-1674)Aca>Tca		glypican 5							383.0	285.0	318.0					13																	93518645		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518645A>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1672A>T	13.37:g.93518645A>T	ENSP00000366267:p.Thr558Ser						p.T558S	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			8	2044	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	558					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1672A>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	8.139	0.784820	0.16189	.	.	ENSG00000179399	ENST00000377067	T	0.51325	0.71	5.81	-5.13	0.02884	.	0.874487	0.09523	N	0.790567	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.20638	-1.0269	10	0.24483	T	0.36	-0.0387	7.112	0.25396	0.4492:0.0:0.436:0.1147	.	558	P78333	GPC5_HUMAN	S	558	ENSP00000366267:T558S	ENSP00000366267:T558S	T	+	1	0	GPC5	92316646	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.050000	0.14120	-1.190000	0.02698	-0.417000	0.06048	ACA		0.428	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		66	420	0	0	0	1	0	66	420				
OR5M11	219487	broad.mit.edu	37	11	56310287	56310287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310287G>A	ENST00000528616.2	-	1	470	c.447C>T	c.(445-447)gtC>gtT	p.V149V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGCCATAGACATAGGGAA	0.527																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(445-447)gtC>gtT		olfactory receptor, family 5, subfamily M, member 11							43.0	46.0	45.0					11																	56310287		2114	4256	6370	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310287G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.447C>T	11.37:g.56310287G>A							p.V149V	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	470	-			149					B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.447C>T	CCDS53629.1																																																																																				0.527	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		24	113	0	0	0	1	0	24	113				
TBC1D14	57533	broad.mit.edu	37	4	6925330	6925330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6925330G>A	ENST00000409757.4	+	2	338	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	72					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCCTACCCTGGAGATCGGGAA	0.657																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(214-216)Gag>Aag		TBC1 domain family, member 14							42.0	47.0	45.0					4																	6925330		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925330G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.214G>A	4.37:g.6925330G>A	ENSP00000386921:p.Glu72Lys					TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	p.E72K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	338	+			72					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.214G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	35	5.456469	0.96223	.	.	ENSG00000132405	ENST00000444368;ENST00000448507;ENST00000409757	T;T;T	0.61627	0.09;2.89;2.89	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.69529	-0.5121	10	0.59425	D	0.04	-28.4738	17.0989	0.86644	0.0:0.0:1.0:0.0	.	72	Q9P2M4	TBC14_HUMAN	K	72	ENSP00000414951:E72K;ENSP00000404041:E72K;ENSP00000386921:E72K	ENSP00000386921:E72K	E	+	1	0	TBC1D14	6976231	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.256000	0.89848	2.519000	0.84933	0.655000	0.94253	GAG		0.657	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		82	336	0	0	0	1	0	82	336				
E2F7	144455	broad.mit.edu	37	12	77438548	77438548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77438548G>A	ENST00000322886.7	-	6	1092	c.857C>T	c.(856-858)tCt>tTt	p.S286F	E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	286					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AATTCTCAGAGACTTGTCTTT	0.393																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(856-858)tCt>tTt		E2F transcription factor 7							133.0	119.0	124.0					12																	77438548		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77438548G>A	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.857C>T	12.37:g.77438548G>A	ENSP00000323246:p.Ser286Phe					E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	p.S286F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			6	1092	-			286					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.857C>T	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.077982|5.077982	0.94000|0.94000	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000551058|ENST00000322886;ENST00000416496;ENST00000550669	.|T;T;T	.|0.41400	.|1.2;1.0;1.01	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77054|0.77054	0.4074|0.4074	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.82579|0.82579	-0.0387|-0.0387	5|10	.|0.87932	.|D	.|0	-18.3452|-18.3452	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|286	.|Q96AV8	.|E2F7_HUMAN	F|F	164|286	.|ENSP00000323246:S286F;ENSP00000393639:S286F;ENSP00000448245:S286F	.|ENSP00000323246:S286F	L|S	-|-	1|2	0|0	E2F7|E2F7	75962679|75962679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.393	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		80	365	0	0	0	1	0	80	365				
PIP5K1C	23396	broad.mit.edu	37	19	3644083	3644083	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3644083A>G	ENST00000335312.3	-	12	1599		c.e12+1		PIP5K1C_ENST00000589578.1_Splice_Site|PIP5K1C_ENST00000539785.1_Splice_Site|PIP5K1C_ENST00000537021.1_Splice_Site	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma						actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTGCCCCTCACCTTCGTCCT	0.711																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.e12+1		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							33.0	39.0	37.0					19																	3644083		2193	4285	6478	SO:0001630	splice_region_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3644083A>G	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1510+1T>C	19.37:g.3644083A>G						PIP5K1C_ENST00000589578.1_Splice_Site|PIP5K1C_ENST00000537021.1_Splice_Site|PIP5K1C_ENST00000539785.1_Splice_Site		NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1599	-		Hepatocellular(1079;0.137)						B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Splice_Site	SNP	ENST00000335312.3	37		CCDS32872.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395140	0.25205	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	.	.	.	4.66	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8133	0.46559	0.8408:0.1592:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP5K1C	3595083	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	6.952000	0.75989	0.644000	0.30656	-0.513000	0.04457	.		0.711	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398	Intron	73	369	0	0	0	1	0	73	369				
FOXF1	2294	broad.mit.edu	37	16	86545078	86545078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86545078C>T	ENST00000262426.4	+	1	946	c.903C>T	c.(901-903)tcC>tcT	p.S301S	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	301					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						ACCCCCTGTCCGGCAGCCTCT	0.706																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(901-903)tcC>tcT		forkhead box F1							5.0	6.0	6.0					16																	86545078		2037	4050	6087	SO:0001819	synonymous_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86545078C>T	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.903C>T	16.37:g.86545078C>T							p.S301S	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	946	+			301					B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	37	c.903C>T	CCDS10957.2																																																																																				0.706	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		21	60	0	0	0	1	0	21	60				
NSUN7	79730	broad.mit.edu	37	4	40776916	40776916	+	Silent	SNP	A	A	G	rs145033684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776916A>G	ENST00000381782.2	+	6	1269	c.774A>G	c.(772-774)aaA>aaG	p.K258K	NSUN7_ENST00000316607.5_Silent_p.K258K|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	258							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTCATCTTAAAAATGATCTTA	0.284																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(772-774)aaA>aaG		NOP2/Sun domain family, member 7							38.0	42.0	41.0					4																	40776916		2189	4268	6457	SO:0001819	synonymous_variant	79730							g.chr4:40776916A>G	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.774A>G	4.37:g.40776916A>G						NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Silent_p.K258K	p.K258K	NM_024677.4	NP_078953.3					6	1269	+								C9JI19|Q8N9K8|Q9H815	Silent	SNP	ENST00000381782.2	37	c.774A>G	CCDS3461.2																																																																																				0.284	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		35	144	0	0	0	1	0	35	144				
MYO15A	51168	broad.mit.edu	37	17	18075471	18075471	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18075471G>A	ENST00000205890.5	+	64	10555	c.10217G>A	c.(10216-10218)gGc>gAc	p.G3406D	MYO15A_ENST00000451725.2_Splice_Site_p.A200T|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000418233.3_Splice_Site_p.G670D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3406	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCTGCCCAGGCCTCCTCAGC	0.597																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.e64-1		myosin XVA							91.0	99.0	96.0					17																	18075471		2114	4229	6343	SO:0001630	splice_region_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18075471G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10217-1G>A	17.37:g.18075471G>A						MYO15A_ENST00000451725.2_Splice_Site_p.A200_splice|MYO15A_ENST00000418233.3_Splice_Site_p.G670_splice	p.G3406_splice	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			64	10555	+	all_neural(463;0.228)		3406			FERM.|Tail.		B4DFC7	Splice_Site	SNP	ENST00000205890.5	37	c.10216_splice	CCDS42271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.863609|2.863609	0.51482|0.51482	.|.	.|.	ENSG00000091536|ENSG00000091536	ENST00000451725|ENST00000205890;ENST00000418233;ENST00000445289	D|T	0.98105|0.77098	-4.72|-1.07	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.|.	.|.	.|.	.|.	D|D	0.85305|0.85305	0.5666|0.5666	L|L	0.48174|0.48174	1.505|1.505	0.50171|0.50171	D|D	0.999855|0.999855	B|D;D;P;D	0.32245|0.89917	0.361|1.0;1.0;0.952;1.0	B|D;D;P;D	0.32864|0.97110	0.154|0.995;0.995;0.876;1.0	T|T	0.82983|0.82983	-0.0186|-0.0186	8|8	.|.	.|.	.|.	.|.	19.6732|19.6732	0.95918|0.95918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200|395;101;670;3406	B4DQJ3|B4DLV9;B4DMU9;B4DFC7;Q9UKN7	.|.;.;.;MYO15_HUMAN	T|D	200|3406;395;101	ENSP00000409098:A200T|ENSP00000205890:G3406D	.|.	A|G	+|+	1|2	0|0	MYO15A|MYO15A	18016196|18016196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.153000|0.153000	0.21895|0.21895	9.647000|9.647000	0.98478|0.98478	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	Missense_Mutation	73	310	0	0	0	1	0	73	310				
ZHX2	22882	broad.mit.edu	37	8	123965081	123965081	+	Missense_Mutation	SNP	G	G	A	rs546766772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965081G>A	ENST00000314393.4	+	3	2166	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	444	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGTGACCGCAAGAAGACA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17580	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1330-1332)cGc>cAc		zinc fingers and homeoboxes 2							96.0	113.0	107.0					8																	123965081		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965081G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1331G>A	8.37:g.123965081G>A	ENSP00000314709:p.Arg444His						p.R444H	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2166	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		444			Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1331G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456528	0.63401	.	.	ENSG00000178764	ENST00000314393	D	0.91792	-2.91	5.85	5.85	0.93711	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.227219	0.45606	D	0.000350	D	0.93858	0.8035	L	0.40543	1.245	0.52099	D	0.999942	D	0.89917	1.0	D	0.73380	0.98	D	0.90635	0.4570	10	0.16896	T	0.51	-19.237	20.1559	0.98114	0.0:0.0:1.0:0.0	.	444	Q9Y6X8	ZHX2_HUMAN	H	444	ENSP00000314709:R444H	ENSP00000314709:R444H	R	+	2	0	ZHX2	124034262	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.241000	0.78201	2.779000	0.95612	0.491000	0.48974	CGC		0.617	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		41	189	0	0	0	1	0	41	189				
BUB1B	701	broad.mit.edu	37	15	40494850	40494850	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40494850C>A	ENST00000287598.6	+	14	1884	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	BUB1B_ENST00000412359.3_Silent_p.T577T	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	563					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCTCAAAACCTCAGAAAGCA	0.403			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(1687-1689)acC>acA		BUB1 mitotic checkpoint serine/threonine kinase B							137.0	136.0	136.0					15																	40494850		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40494850C>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1689C>A	15.37:g.40494850C>A						BUB1B_ENST00000412359.3_Silent_p.T577T	p.T563T	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	14	1884	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	563					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.1689C>A	CCDS10053.1																																																																																				0.403	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			111	525	1	0	1.45844e-59	1	1.83211e-59	111	525				
UTRN	7402	broad.mit.edu	37	6	144768443	144768443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144768443C>T	ENST00000367545.3	+	14	1711	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	571	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R571*(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCAGTGTTCGACGTCTGGC	0.383																																						ENST00000367545.3																			2	Substitution - Nonsense(2)	p.R571*(2)	large_intestine(1)|breast(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1711-1713)Cga>Tga		utrophin							118.0	104.0	109.0					6																	144768443		2203	4300	6503	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144768443C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1711C>T	6.37:g.144768443C>T	ENSP00000356515:p.Arg571*						p.R571*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	14	1711	+		Ovarian(120;0.218)	571			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.1711C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	38	7.240768	0.98157	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.85	4.98	0.66077	.	0.000000	0.44902	D	0.000415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7217	0.40306	0.1401:0.7897:0.0:0.0702	.	.	.	.	X	571	.	ENSP00000356499:R571X	R	+	1	2	UTRN	144810136	1.000000	0.71417	0.110000	0.21437	0.686000	0.39977	4.662000	0.61525	1.470000	0.48102	0.561000	0.74099	CGA		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			15	116	0	0	0	1	0	15	116				
NKX6-2	84504	broad.mit.edu	37	10	134598469	134598469	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134598469T>G	ENST00000368592.5	-	3	888	c.785A>C	c.(784-786)aAc>aCc	p.N262T	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	262					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CAGCGCCAAGTTCGAGGGTTT	0.677																																						ENST00000368592.5																			0				endometrium(1)|lung(2)	3						c.(784-786)aAc>aCc		NK6 homeobox 2							64.0	52.0	56.0					10																	134598469		2195	4297	6492	SO:0001583	missense	84504					nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:134598469T>G	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"""Homeoboxes / ANTP class : NKL subclass"""	19321	protein-coding gene	gene with protein product		605955	"""NK6 transcription factor related, locus 2 (Drosophila)"""			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.785A>C	10.37:g.134598469T>G	ENSP00000357581:p.Asn262Thr						p.N262T	NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)	3	888	-		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)	262					Q5JSF3	Missense_Mutation	SNP	ENST00000368592.5	37	c.785A>C	CCDS7670.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895624	0.33442	.	.	ENSG00000148826	ENST00000368592	T	0.54071	0.59	3.07	1.92	0.25849	.	0.054125	0.64402	D	0.000001	T	0.42539	0.1207	L	0.60455	1.87	0.53688	D	0.999972	B	0.15473	0.013	B	0.14023	0.01	T	0.24440	-1.0160	10	0.34782	T	0.22	-28.5154	5.673	0.17733	0.0:0.0976:0.1703:0.7321	.	262	Q9C056	NKX62_HUMAN	T	262	ENSP00000357581:N262T	ENSP00000357581:N262T	N	-	2	0	NKX6-2	134448459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.931000	0.28871	0.571000	0.29365	0.379000	0.24179	AAC		0.677	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2			43	213	0	0	0	1	0	43	213				
IGF2R	3482	broad.mit.edu	37	6	160455500	160455500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160455500A>C	ENST00000356956.1	+	10	1409	c.1261A>C	c.(1261-1263)Agc>Cgc	p.S421R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	421					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGATGAATGCAGCTCAGGGTT	0.443																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1261-1263)Agc>Cgc		insulin-like growth factor 2 receptor							142.0	129.0	133.0					6																	160455500		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160455500A>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1261A>C	6.37:g.160455500A>C	ENSP00000349437:p.Ser421Arg						p.S421R	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	10	1409	+		Breast(66;0.000777)|Ovarian(120;0.0305)	421					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1261A>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168410	0.57584	.	.	ENSG00000197081	ENST00000356956	T	0.04119	3.7	5.5	5.5	0.81552	Mannose-6-phosphate receptor, binding (1);	0.135082	0.64402	D	0.000003	T	0.09862	0.0242	M	0.86028	2.79	0.58432	D	0.999998	P	0.52316	0.952	P	0.51582	0.674	T	0.05451	-1.0884	10	0.35671	T	0.21	-12.1161	15.6029	0.76639	1.0:0.0:0.0:0.0	.	421	P11717	MPRI_HUMAN	R	421	ENSP00000349437:S421R	ENSP00000349437:S421R	S	+	1	0	IGF2R	160375490	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	6.739000	0.74827	2.090000	0.63153	0.533000	0.62120	AGC		0.443	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		35	478	0	0	0	1	0	35	478				
FRMD1	79981	broad.mit.edu	37	6	168465674	168465674	+	Silent	SNP	G	G	A	rs376956774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168465674G>A	ENST00000283309.6	-	5	589	c.525C>T	c.(523-525)tgC>tgT	p.C175C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.C107C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	175	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCCGGTGAGCGCACTGTGACC	0.667																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(523-525)tgC>tgT		FERM domain containing 1		G	,	0,4406		0,0,2203	64.0	55.0	58.0		321,525	-0.3	0.0	6		58	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FRMD1	NM_001122841.1,NM_024919.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	107/482,175/550	168465674	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79981					cytoskeleton	binding	g.chr6:168465674G>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.525C>T	6.37:g.168465674G>A						FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.C107C|FRMD1_ENST00000537786.1_5'UTR	p.C175C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	5	589	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	175			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	c.525C>T	CCDS5306.1																																																																																				0.667	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		29	124	0	0	0	1	0	29	124				
FGFR3	2261	broad.mit.edu	37	4	1805556	1805556	+	Silent	SNP	G	G	A	rs201947443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805556G>A	ENST00000260795.2	+	7	1170	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Silent_p.V356V			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	356					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCTGGTGGTGCTGCCAGGTA	0.617		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				g|||	1	0.000199681	0.0	0.0	5008	,	,		15815	0.001		0.0	False		,,,				2504	0.0					ENST00000440486.2		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1066-1068)gtG>gtA		fibroblast growth factor receptor 3	Palifermin(DB00039)						96.0	96.0	96.0					4																	1805556		2203	4300	6503	SO:0001819	synonymous_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1805556G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1068G>A	4.37:g.1805556G>A						FGFR3_ENST00000260795.2_Silent_p.V356V|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron	p.V356V	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		8	1324	+		Breast(71;0.212)|all_epithelial(65;0.241)	356					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.1068G>A	CCDS3353.1																																																																																				0.617	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		70	360	0	0	0	1	0	70	360				
CXCR1	3577	broad.mit.edu	37	2	219029293	219029293	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029293C>T	ENST00000295683.2	-	2	762	c.642G>A	c.(640-642)ccG>ccA	p.P214P		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	214					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	TGACAAACAGCGGCACGATGA	0.527																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(640-642)ccG>ccA		chemokine (C-X-C motif) receptor 1							129.0	115.0	120.0					2																	219029293		2203	4300	6503	SO:0001819	synonymous_variant	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029293C>T	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.642G>A	2.37:g.219029293C>T							p.P214P	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	762	-			214					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	ENST00000295683.2	37	c.642G>A	CCDS2409.1																																																																																				0.527	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		111	446	0	0	0	1	0	111	446				
ASIC4	55515	broad.mit.edu	37	2	220397076	220397076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220397076G>T	ENST00000347842.3	+	4	1290	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ASIC4_ENST00000358078.4_Nonsense_Mutation_p.E426*|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	426					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CTGCCGCGCAGAGAGTGAGCT	0.642																																						ENST00000358078.4																			0											c.(1276-1278)Gag>Tag		acid-sensing (proton-gated) ion channel family member 4							49.0	49.0	49.0					2																	220397076		2203	4300	6503	SO:0001587	stop_gained	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220397076G>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1276G>T	2.37:g.220397076G>T	ENSP00000326627:p.Glu426*					ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Nonsense_Mutation_p.E426*	p.E426*			Q96FT7	ACCN4_HUMAN			4	1290	+			426					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Nonsense_Mutation	SNP	ENST00000347842.3	37	c.1276G>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353788	0.41700	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	.	.	.	4.1	4.1	0.47936	.	0.309838	0.32473	N	0.006041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-10.3794	12.0364	0.53427	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000326627:E426X	E	+	1	0	ACCN4	220105320	0.998000	0.40836	0.908000	0.35775	0.063000	0.16089	3.093000	0.50217	2.305000	0.77605	0.561000	0.74099	GAG		0.642	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		64	283	1	0	6.66387e-47	1	8.19462e-47	64	283				
MYO10	4651	broad.mit.edu	37	5	16701471	16701471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16701471G>A	ENST00000513610.1	-	25	3487	c.3033C>T	c.(3031-3033)agC>agT	p.S1011S	MYO10_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Silent_p.S368S|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000505695.1_Silent_p.S350S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1011					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCCGTGCTCGCTGGGGTTGG	0.612																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3031-3033)agC>agT		myosin X							41.0	47.0	45.0					5																	16701471		2168	4257	6425	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701471G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3033C>T	5.37:g.16701471G>A						MYO10_ENST00000505695.1_Silent_p.S350S|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000274203.9_Silent_p.S368S	p.S1011S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			25	3487	-			1011					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3033C>T	CCDS54834.1																																																																																				0.612	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		25	181	0	0	0	1	0	25	181				
CHAF1A	10036	broad.mit.edu	37	19	4409479	4409479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4409479C>T	ENST00000301280.5	+	3	784	c.683C>T	c.(682-684)gCt>gTt	p.A228V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	228	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTGAAGCTGGGGGCATC	0.592								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(682-684)gCt>gTt	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							93.0	101.0	98.0					19																	4409479		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4409479C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.683C>T	19.37:g.4409479C>T	ENSP00000301280:p.Ala228Val						p.A228V	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	3	784	+		Hepatocellular(1079;0.137)	228			Binds to CBX1 chromo shadow domain.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.683C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355976	0.41700	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.57273	0.41	5.78	4.55	0.56014	.	.	.	.	.	T	0.41789	0.1174	L	0.34521	1.04	0.09310	N	1	P	0.36753	0.568	B	0.36608	0.229	T	0.38001	-0.9681	9	0.87932	D	0	-33.0748	8.718	0.34423	0.0:0.8566:0.0:0.1434	.	228	Q13111	CAF1A_HUMAN	V	228	ENSP00000301280:A228V	ENSP00000301280:A228V	A	+	2	0	CHAF1A	4360479	0.785000	0.28726	0.149000	0.22428	0.362000	0.29581	2.147000	0.42226	2.721000	0.93114	0.561000	0.74099	GCT		0.592	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		51	265	0	0	0	1	0	51	265				
IQCH	64799	broad.mit.edu	37	15	67665742	67665742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67665742G>T	ENST00000335894.4	+	10	1409	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	448										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGGACCTCCAGGAGGACTATT	0.428																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1342-1344)aGg>aTg		IQ motif containing H							151.0	131.0	138.0					15																	67665742		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67665742G>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1343G>T	15.37:g.67665742G>T	ENSP00000336861:p.Arg448Met					IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M	p.R448M	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	10	1409	+			448					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1343G>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977290	0.53720	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.50277	0.76;0.8;0.75;0.79	5.95	5.04	0.67666	.	0.091195	0.85682	D	0.000000	T	0.69333	0.3099	M	0.78637	2.42	0.29267	N	0.870963	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.961;0.977;0.982;0.997	T	0.69914	-0.5016	10	0.62326	D	0.03	0.0092	15.0812	0.72117	0.0677:0.0:0.9323:0.0	.	196;200;448;275	Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;IQCH_HUMAN;.	M	275;196;448;200	ENSP00000351617:R275M;ENSP00000444118:R196M;ENSP00000336861:R448M;ENSP00000353419:R200M	ENSP00000336861:R448M	R	+	2	0	IQCH	65452796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.251000	0.58778	1.520000	0.48965	0.655000	0.94253	AGG		0.428	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		73	317	1	0	5.00163e-47	1	6.15206e-47	73	317				
SKOR1	390598	broad.mit.edu	37	15	68118532	68118532	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68118532C>A	ENST00000380035.2	+	2	424	c.366C>A	c.(364-366)gcC>gcA	p.A122A	SKOR1_ENST00000554054.1_Silent_p.A94A|SKOR1_ENST00000389002.1_Silent_p.A113A|SKOR1_ENST00000341418.5_Silent_p.A308A|SKOR1_ENST00000554240.1_Silent_p.A83A			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	122					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCCGCGTGGCCCTGGGCATCA	0.637																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(364-366)gcC>gcA		SKI family transcriptional corepressor 1							77.0	75.0	76.0					15																	68118532		2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118532C>A		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.366C>A	15.37:g.68118532C>A						SKOR1_ENST00000554054.1_Silent_p.A94A|SKOR1_ENST00000389002.1_Silent_p.A113A|SKOR1_ENST00000554240.1_Silent_p.A83A|SKOR1_ENST00000341418.5_Silent_p.A308A	p.A122A			P84550	SKOR1_HUMAN			2	424	+			122					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.366C>A																																																																																					0.637	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		74	375	1	0	3.52157e-22	1	3.98061e-22	74	375				
SLC5A11	115584	broad.mit.edu	37	16	24922842	24922842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24922842C>T	ENST00000347898.3	+	16	2638	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000449109.2_Silent_p.G516G|SLC5A11_ENST00000568579.1_Silent_p.G602G|SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000424767.2_Silent_p.G637G	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTATCTGGGGCTATTTTGCTT	0.438																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(2014-2016)ggC>ggT		solute carrier family 5 (sodium/inositol cotransporter), member 11							122.0	123.0	123.0					16																	24922842		2197	4300	6497	SO:0001819	synonymous_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24922842C>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.2016C>T	16.37:g.24922842C>T						SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000568579.1_Silent_p.G602G|SLC5A11_ENST00000424767.2_Silent_p.G637G|SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000449109.2_Silent_p.G516G	p.G672G	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	16	2638	+			672						Silent	SNP	ENST00000347898.3	37	c.2016C>T	CCDS10625.1																																																																																				0.438	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		118	542	0	0	0	1	0	118	542				
AIPL1	23746	broad.mit.edu	37	17	6337274	6337274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6337274C>T	ENST00000381129.3	-	2	321	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M|AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M|AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	81	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACCTCGTGCACCCGCATGGAG	0.592																																						ENST00000381129.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.(241-243)Gtg>Atg		aryl hydrocarbon receptor interacting protein-like 1							126.0	90.0	102.0					17																	6337274		2203	4300	6503	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6337274C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.241G>A	17.37:g.6337274C>T	ENSP00000370521:p.Val81Met					AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M|AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M	p.V81M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	321	-			81			PPIase FKBP-type.		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.241G>A	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735304	0.30774	.	.	ENSG00000129221	ENST00000381129;ENST00000250087;ENST00000444243	D;D	0.87887	-2.31;-2.31	5.05	-10.1	0.00402	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.341267	0.28821	N	0.014031	D	0.82697	0.5093	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.50369	0.934;0.823;0.627;0.933;0.91	P;P;B;P;P	0.53593	0.73;0.458;0.255;0.668;0.583	T	0.74910	-0.3503	10	0.46703	T	0.11	-8.5843	5.4559	0.16590	0.0902:0.1015:0.5139:0.2944	.	81;59;81;81;81	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9	.;.;.;.;AIPL1_HUMAN	M	81	ENSP00000370521:V81M;ENSP00000250087:V81M	ENSP00000250087:V81M	V	-	1	0	AIPL1	6277998	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.414000	0.07114	-1.781000	0.01277	-0.219000	0.12488	GTG		0.592	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		21	134	0	0	0	1	0	21	134				
RNF17	56163	broad.mit.edu	37	13	25425606	25425606	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25425606A>C	ENST00000255324.5	+	24	3269	c.3217A>C	c.(3217-3219)Aca>Cca	p.T1073P	RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P|RNF17_ENST00000339524.3_Missense_Mutation_p.T125P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1073					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACAACACAACATGGCCATT	0.343																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3217-3219)Aca>Cca		ring finger protein 17							101.0	98.0	99.0					13																	25425606		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25425606A>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3217A>C	13.37:g.25425606A>C	ENSP00000255324:p.Thr1073Pro					RNF17_ENST00000339524.3_Missense_Mutation_p.T125P|RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P	p.T1073P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	24	3269	+		Lung SC(185;0.0225)|Breast(139;0.077)	1073					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3217A>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236299	0.39498	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.22134	3.54;3.54;2.78;1.97	4.51	4.51	0.55191	.	0.617926	0.14370	N	0.323835	T	0.24084	0.0583	L	0.54323	1.7	0.41967	D	0.990735	P;P;P;P	0.47191	0.627;0.694;0.891;0.883	B;B;P;B	0.48227	0.188;0.296;0.571;0.368	T	0.03148	-1.1067	10	0.27785	T	0.31	-1.914	5.5124	0.16888	0.6527:0.177:0.0:0.1703	.	1069;125;1073;1073	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	P	1073;1073;932;397;125	ENSP00000255324:T1073P;ENSP00000371346:T1073P;ENSP00000388892:T397P;ENSP00000344776:T125P	ENSP00000255324:T1073P	T	+	1	0	RNF17	24323606	0.036000	0.19791	0.746000	0.31095	0.752000	0.42762	0.614000	0.24314	2.002000	0.58637	0.482000	0.46254	ACA		0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		47	208	0	0	0	1	0	47	208				
MAGEB6	158809	broad.mit.edu	37	X	26212149	26212149	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212149G>T	ENST00000379034.1	+	2	335	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	62	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCATTCCTCAGGAGTCTCAGG	0.522																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(184-186)caG>caT		melanoma antigen family B, 6							112.0	98.0	103.0					X																	26212149		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212149G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.186G>T	X.37:g.26212149G>T	ENSP00000368320:p.Gln62His						p.Q62H	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	335	+			62			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.186G>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503317	0.26949	.	.	ENSG00000176746	ENST00000379034	T	0.08458	3.09	1.59	0.603	0.17541	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.08358	0.0208	L	0.58354	1.805	0.09310	N	1	B	0.28605	0.217	B	0.22753	0.041	T	0.27536	-1.0071	9	0.59425	D	0.04	.	5.1954	0.15233	0.0:0.3673:0.6327:0.0	.	62	Q8N7X4	MAGB6_HUMAN	H	62	ENSP00000368320:Q62H	ENSP00000368320:Q62H	Q	+	3	2	MAGEB6	26122070	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.243000	0.08915	0.121000	0.18284	0.429000	0.28392	CAG		0.522	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		80	265	1	0	2.22156e-40	1	2.69346e-40	80	265				
DFNA5	1687	broad.mit.edu	37	7	24749866	24749866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24749866C>T	ENST00000342947.3	-	6	1264	c.839G>A	c.(838-840)gGa>gAa	p.G280E	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000545231.1_Missense_Mutation_p.G116E	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	280					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACTTAATGGTCCATCCTGGGA	0.512																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(346-348)gGa>gAa		deafness, autosomal dominant 5							142.0	132.0	135.0					7																	24749866		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24749866C>T	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.839G>A	7.37:g.24749866C>T	ENSP00000339587:p.Gly280Glu					DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000342947.3_Missense_Mutation_p.G280E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E	p.G116E			O60443	DFNA5_HUMAN			8	1497	-			280					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.347G>A	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.35|10.35	1.326027|1.326027	0.24080|0.24080	.|.	.|.	ENSG00000105928|ENSG00000105928	ENST00000415480;ENST00000446822|ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	.|T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04	5.21|5.21	0.259|0.259	0.15583|0.15583	.|.	.|0.852240	.|0.10510	.|N	.|0.666302	T|T	0.11922|0.11922	0.0290|0.0290	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.24768	.|0.111	.|B	.|0.24701	.|0.055	T|T	0.39251|0.39251	-0.9623|-0.9623	5|10	.|0.02654	.|T	.|1	-1.1998|-1.1998	4.7256|4.7256	0.12939|0.12939	0.0:0.3958:0.2779:0.3263|0.0:0.3958:0.2779:0.3263	.|.	.|280	.|O60443	.|DFNA5_HUMAN	N|E	69;105|280;116;116;116;280	.|ENSP00000339587:G280E;ENSP00000401332:G116E;ENSP00000442661:G116E;ENSP00000387119:G116E;ENSP00000386670:G280E	.|ENSP00000339587:G280E	D|G	-|-	1|2	0|0	DFNA5|DFNA5	24716391|24716391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-0.163000|-0.163000	0.09997|0.09997	-0.270000|-0.270000	0.09285|0.09285	-0.302000|-0.302000	0.09304|0.09304	GAC|GGA		0.512	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		72	436	0	0	0	1	0	72	436				
DSCAM	1826	broad.mit.edu	37	21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	213	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAAGTCTGGCGCTGTTGCTC	0.428																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(637-639)Gcc>Acc		Down syndrome cell adhesion molecule							86.0	87.0	87.0					21																	41741044		1926	4138	6064	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741044C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.637G>A	21.37:g.41741044C>T	ENSP00000383303:p.Ala213Thr						p.A213T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			4	1114	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	213			Ig-like C2-type 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.637G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626471	0.96671	.	.	ENSG00000171587	ENST00000400454	T	0.12255	2.7	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.74546	2.27	0.53688	D	0.999971	D	0.89917	1.0	D	0.69654	0.965	T	0.02417	-1.1162	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	213	O60469	DSCAM_HUMAN	T	213	ENSP00000383303:A213T	ENSP00000383303:A213T	A	-	1	0	DSCAM	40662914	1.000000	0.71417	0.769000	0.31535	0.950000	0.60333	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GCC		0.428	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		50	231	0	0	0	1	0	50	231				
SDC4	6385	broad.mit.edu	37	20	43959025	43959025	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959025C>A	ENST00000372733.3	-	4	465	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CCTCCGTTCTCTCAAAGATGT	0.547			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(424-426)gaG>gaT		syndecan 4							143.0	116.0	125.0					20																	43959025		2203	4300	6503	SO:0001583	missense	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43959025C>A	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.426G>T	20.37:g.43959025C>A	ENSP00000361818:p.Glu142Asp					SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	p.E142D	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			4	465	-		Myeloproliferative disorder(115;0.0122)	142					O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	c.426G>T	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439599	0.63067	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.33865	1.39	5.93	2.97	0.34412	.	0.104334	0.64402	D	0.000003	T	0.45558	0.1348	L	0.53249	1.67	0.39346	D	0.965676	D	0.63046	0.992	P	0.60682	0.878	T	0.31024	-0.9958	10	0.33940	T	0.23	-35.7483	8.0908	0.30799	0.0:0.6743:0.0:0.3257	.	142	P31431	SDC4_HUMAN	D	142;70	ENSP00000361818:E142D	ENSP00000361818:E142D	E	-	3	2	SDC4	43392439	0.942000	0.31987	1.000000	0.80357	0.843000	0.47879	0.009000	0.13219	0.407000	0.25591	-0.126000	0.14955	GAG		0.547	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		74	282	1	0	2.09793e-52	1	2.60941e-52	74	282				
NBPF14	25832	broad.mit.edu	37	1	148017572	148017572	+	Silent	SNP	C	C	T	rs587698470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148017572C>T	ENST00000369219.1	-	6	727	c.711G>A	c.(709-711)tcG>tcA	p.S237S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	237	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGACTTGTACGAGGCCAACA	0.478													-|||	2	0.000399361	0.0015	0.0	5008	,	,		46685	0.0		0.0	False		,,,				2504	0.0					ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(709-711)tcG>tcA		neuroblastoma breakpoint family, member 14							41.0	43.0	42.0					1																	148017572		1500	2697	4197	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148017572C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.711G>A	1.37:g.148017572C>T							p.S237S			Q5TI25	NBPFE_HUMAN			6	727	-	all_hematologic(923;0.032)		237			NBPF 2.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.711G>A		.	.	.	.	.	.	.	.	.	.	c	0.702	-0.790535	0.02884	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35724	-0.9777	2	.	.	.	.	.	.	.	.	.	.	.	H	243;248;248;248;248;248;248;248	.	.	R	-	2	0	NBPF14	146484196	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-0.606000	0.05654	-0.924000	0.03780	-0.976000	0.02587	CGT		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		112	1903	0	0	0	1	0	112	1903				
LAMA4	3910	broad.mit.edu	37	6	112476778	112476778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112476778G>A	ENST00000230538.7	-	15	2345	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	650	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATAAATTCGGTCAGTGGTG	0.373																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1948-1950)Cga>Tga		laminin, alpha 4							133.0	128.0	130.0					6																	112476778		2203	4300	6503	SO:0001587	stop_gained	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112476778G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1948C>T	6.37:g.112476778G>A	ENSP00000230538:p.Arg650*					LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000425503.1_RNA	p.R650*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	15	2345	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	650			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	ENST00000230538.7	37	c.1948C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	42	9.576240	0.99210	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.42	2.35	0.29111	.	0.213448	0.44902	D	0.000405	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6393	0.56700	0.0:0.0:0.5638:0.4362	.	.	.	.	X	650;643;643;643	.	ENSP00000230538:R650X	R	-	1	2	LAMA4	112583471	1.000000	0.71417	0.949000	0.38748	0.858000	0.48976	1.637000	0.37155	0.799000	0.34018	0.563000	0.77884	CGA		0.373	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		93	378	0	0	0	1	0	93	378				
APP	351	broad.mit.edu	37	21	27354787	27354787	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27354787G>T	ENST00000346798.3	-	9	1127	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000357903.3_Missense_Mutation_p.P346H|APP_ENST00000358918.3_Missense_Mutation_p.P365H|APP_ENST00000359726.3_Missense_Mutation_p.P309H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000354192.3_Missense_Mutation_p.P234H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000448388.2_Missense_Mutation_p.P255H	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	365					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGCTGTTGTAGGAACTATAAA	0.418																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1093-1095)cCt>cAt		amyloid beta (A4) precursor protein							55.0	53.0	54.0					21																	27354787		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27354787G>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1094C>A	21.37:g.27354787G>T	ENSP00000284981:p.Pro365His					APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000354192.3_Missense_Mutation_p.P234H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000346798.3_Missense_Mutation_p.P365H|APP_ENST00000448388.2_Missense_Mutation_p.P255H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000357903.3_Missense_Mutation_p.P346H|APP_ENST00000359726.3_Missense_Mutation_p.P309H	p.P365H	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			9	1293	-		Breast(209;0.00295)	365					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1094C>A	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135759	0.77662	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;T;T;D;D;D;T;D;D	0.96913	-2.24;0.94;0.94;-2.24;-2.07;-4.17;0.94;-2.24;-2.22	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.988;1.0;0.963;0.985;1.0	P;D;P;D;P;P;D	0.97110	0.797;1.0;0.866;0.997;0.694;0.694;0.999	D	0.96487	0.9361	10	0.18276	T	0.48	-8.6512	14.2738	0.66167	0.0719:0.0:0.9281:0.0	.	255;309;341;234;290;346;365	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	H	365;234;290;346;365;309;255;341;309	ENSP00000284981:P365H;ENSP00000346129:P234H;ENSP00000345463:P290H;ENSP00000350578:P346H;ENSP00000351796:P365H;ENSP00000352760:P309H;ENSP00000388538:P255H;ENSP00000387483:P341H;ENSP00000398879:P309H	ENSP00000284981:P365H	P	-	2	0	APP	26276658	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.263000	0.95617	1.540000	0.49301	0.655000	0.94253	CCT		0.418	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		46	212	1	0	8.48111e-28	1	9.83746e-28	46	212				
NFKBIE	4794	broad.mit.edu	37	6	44229575	44229575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44229575T>C	ENST00000275015.5	-	3	895	c.896A>G	c.(895-897)cAt>cGt	p.H299R		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	299					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACAGCCAGATGGAGTGCTGT	0.612																																						ENST00000275015.5																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(895-897)cAt>cGt		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon							20.0	21.0	21.0					6																	44229575		2201	4296	6497	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229575T>C	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.896A>G	6.37:g.44229575T>C	ENSP00000275015:p.His299Arg						p.H299R	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	895	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		299					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.896A>G	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	T	8.758	0.922890	0.18056	.	.	ENSG00000146232	ENST00000275015	T	0.71341	-0.56	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.059370	0.64402	D	0.000003	D	0.85323	0.5670	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89287	0.3616	10	0.87932	D	0	-0.4291	14.894	0.70630	0.0:0.0:0.0:1.0	.	299	O00221	IKBE_HUMAN	R	299	ENSP00000275015:H299R	ENSP00000275015:H299R	H	-	2	0	NFKBIE	44337553	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.040000	0.89188	2.000000	0.58554	0.533000	0.62120	CAT		0.612	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			7	137	0	0	0	1	0	7	137				
OPLAH	26873	broad.mit.edu	37	8	145112597	145112597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145112597C>T	ENST00000426825.1	-	10	1257	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	392					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATTAGCATCCGTCACTGTCA	0.647																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1174-1176)acG>acA		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						18.0	22.0	20.0					8																	145112597		2007	4142	6149	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145112597C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1176G>A	8.37:g.145112597C>T						OPLAH_ENST00000534424.1_5'UTR	p.T392T	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		10	1257	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		392					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.1176G>A																																																																																					0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		18	160	0	0	0	1	0	18	160				
CCHCR1	54535	broad.mit.edu	37	6	31118509	31118509	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31118509G>T	ENST00000376266.5	-	6	949	c.827C>A	c.(826-828)aCc>aAc	p.T276N	CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N|CCHCR1_ENST00000396268.3_Missense_Mutation_p.T365N|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N|CCHCR1_ENST00000480060.1_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	276					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACCTGCATGGTTTCCAGAAG	0.542																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1093-1095)aCc>aAc		coiled-coil alpha-helical rod protein 1							260.0	236.0	244.0					6																	31118509		1511	2709	4220	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31118509G>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.827C>A	6.37:g.31118509G>T	ENSP00000365442:p.Thr276Asn					CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.T276N	p.T365N	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			6	1282	-			276					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1094C>A	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.761136	0.31137	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	4.61	3.73	0.42828	.	0.292352	0.30244	N	0.010072	T	0.07098	0.0180	M	0.72118	2.19	0.21290	N	0.999733	D;D;D;D;D	0.67145	0.991;0.966;0.992;0.991;0.996	P;P;P;P;P	0.62740	0.898;0.773;0.906;0.898;0.892	T	0.20075	-1.0286	10	0.30854	T	0.27	-5.6321	10.5851	0.45278	0.0:0.0:0.8099:0.1901	.	276;276;276;329;365	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	N	365;276;276;276;329	ENSP00000379566:T365N;ENSP00000365442:T276N;ENSP00000379561:T276N;ENSP00000401039:T329N	ENSP00000365442:T276N	T	-	2	0	CCHCR1	31226488	0.060000	0.20803	0.615000	0.29064	0.089000	0.18198	1.653000	0.37323	0.950000	0.37743	-2.180000	0.00316	ACC		0.542	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		250	942	1	0	1.11229e-73	1	1.41635e-73	250	942				
TYK2	7297	broad.mit.edu	37	19	10472585	10472585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10472585C>T	ENST00000525621.1	-	13	2301	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	TYK2_ENST00000524462.1_Missense_Mutation_p.R422H|TYK2_ENST00000529370.1_Missense_Mutation_p.R607H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	607	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CACTCGCAGGCGGCCCTCATA	0.632																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1819-1821)cGc>cAc		tyrosine kinase 2							76.0	67.0	70.0					19																	10472585		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10472585C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1820G>A	19.37:g.10472585C>T	ENSP00000431885:p.Arg607His					TYK2_ENST00000524462.1_Missense_Mutation_p.R422H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H|TYK2_ENST00000529370.1_Missense_Mutation_p.R607H	p.R607H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		13	2301	-			607			Protein kinase 1.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.1820G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	7.847	0.723072	0.15439	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.93	1.56	0.23342	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.821987	0.10076	N	0.719098	T	0.17023	0.0409	L	0.43701	1.375	0.09310	N	1	B;B	0.27498	0.18;0.018	B;B	0.20767	0.031;0.015	T	0.32455	-0.9906	10	0.16896	T	0.51	-11.9141	4.2795	0.10825	0.4233:0.397:0.1797:0.0	.	607;607	E9PPF2;P29597	.;TYK2_HUMAN	H	422;607;607;354;607	ENSP00000433203:R422H;ENSP00000431885:R607H;ENSP00000264818:R607H;ENSP00000432728:R607H	ENSP00000264818:R607H	R	-	2	0	TYK2	10333585	0.000000	0.05858	0.010000	0.14722	0.044000	0.14063	0.676000	0.25247	0.218000	0.20820	-0.397000	0.06425	CGC		0.632	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			111	477	0	0	0	1	0	111	477				
CDC42BPA	8476	broad.mit.edu	37	1	227333377	227333377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227333377C>T	ENST00000366769.3	-	8	2247	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AATGAGCCTTCGAATAAGATC	0.368																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(955-957)cGa>cAa		CDC42 binding protein kinase alpha (DMPK-like)							90.0	89.0	89.0					1																	227333377		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227333377C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.956G>A	1.37:g.227333377C>T	ENSP00000355731:p.Arg319Gln					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q	p.R319Q	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			8	2247	-		all_cancers(173;0.156)|Prostate(94;0.0792)	319			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.956G>A	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773959	0.49786	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.17922	0.545	0.80722	D	1	D;D;P;B	0.76494	0.998;0.999;0.803;0.376	D;P;B;B	0.71870	0.975;0.809;0.147;0.065	T	0.61584	-0.7033	10	0.20046	T	0.44	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	319;319;319;319	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	Q	319	ENSP00000355731:R319Q;ENSP00000355729:R319Q;ENSP00000335341:R319Q;ENSP00000355728:R319Q;ENSP00000355726:R319Q;ENSP00000443275:R319Q;ENSP00000355727:R319Q	ENSP00000335341:R319Q	R	-	2	0	CDC42BPA	225400000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.086000	0.57664	2.805000	0.96524	0.655000	0.94253	CGA		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		11	367	0	0	0	1	0	11	367				
TPX2	22974	broad.mit.edu	37	20	30388825	30388825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30388825G>A	ENST00000300403.6	+	18	2714	c.2186G>A	c.(2185-2187)aGt>aAt	p.S729N	TPX2_ENST00000340513.4_Missense_Mutation_p.S765N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	729					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATAAAGTCAAGTGACCAGCCT	0.502																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(2293-2295)aGt>aAt		TPX2, microtubule-associated							182.0	155.0	164.0					20																	30388825		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30388825G>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.2186G>A	20.37:g.30388825G>A	ENSP00000300403:p.Ser729Asn					TPX2_ENST00000300403.6_Missense_Mutation_p.S729N	p.S765N			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		19	2822	+			729					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.2294G>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020733	0.93462	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.53423	0.62	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.986;0.994	T	0.73773	-0.3877	10	0.72032	D	0.01	-4.5283	18.891	0.92403	0.0:0.0:1.0:0.0	.	765;729	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	729;765	ENSP00000341145:S765N	ENSP00000300403:S729N	S	+	2	0	TPX2	29852486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.797000	0.85911	2.941000	0.99782	0.655000	0.94253	AGT		0.502	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			133	654	0	0	0	1	0	133	654				
FMN2	56776	broad.mit.edu	37	1	240256573	240256573	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256573A>C	ENST00000319653.9	+	1	1394	c.1164A>C	c.(1162-1164)ggA>ggC	p.G388G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	388					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCGCAAGGACCTGACGCCC	0.726																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1162-1164)ggA>ggC		formin 2							16.0	21.0	19.0					1																	240256573		2191	4284	6475	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256573A>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1164A>C	1.37:g.240256573A>C							p.G388G	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1394	+	Ovarian(103;0.127)	all_cancers(173;0.013)	388					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.1164A>C	CCDS31069.2																																																																																				0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		32	144	0	0	0	1	0	32	144				
C1QL3	389941	broad.mit.edu	37	10	16556570	16556570	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556570T>C	ENST00000298943.3	-	2	1664	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	242	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTGTATTTGTTGTTGTTTCC	0.388																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(724-726)aAc>aGc		complement component 1, q subcomponent-like 3							151.0	142.0	145.0					10																	16556570		2203	4300	6503	SO:0001583	missense	389941					collagen		g.chr10:16556570T>C		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.725A>G	10.37:g.16556570T>C	ENSP00000298943:p.Asn242Ser						p.N242S	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			2	1664	-			242			C1q.		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.725A>G	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753605	0.69648	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.74737	-0.87	5.68	5.68	0.88126	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	L	0.50333	1.59	0.58432	D	0.999995	P	0.45569	0.861	P	0.49953	0.627	T	0.76307	-0.3007	10	0.38643	T	0.18	.	15.9265	0.79621	0.0:0.0:0.0:1.0	.	242	Q5VWW1	C1QL3_HUMAN	S	242;219	ENSP00000298943:N242S	ENSP00000298943:N242S	N	-	2	0	C1QL3	16596576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.159000	0.67721	0.533000	0.62120	AAC		0.388	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		25	498	0	0	0	1	0	25	498				
IL20RA	53832	broad.mit.edu	37	6	137329757	137329757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137329757G>A	ENST00000316649.5	-	5	938	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	IL20RA_ENST00000367748.1_Nonsense_Mutation_p.Q124*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	235	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGGCACACTGCTTCTCAGAA	0.517																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(370-372)Cag>Tag		interleukin 20 receptor, alpha							94.0	94.0	94.0					6																	137329757		2203	4300	6503	SO:0001587	stop_gained	53832					integral to membrane	receptor activity	g.chr6:137329757G>A	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.703C>T	6.37:g.137329757G>A	ENSP00000314976:p.Gln235*					IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Nonsense_Mutation_p.Q235*	p.Q124*			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	4	956	-	Colorectal(23;0.24)		235			Fibronectin type-III 1.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Nonsense_Mutation	SNP	ENST00000316649.5	37	c.370C>T	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	41	8.882033	0.98988	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	.	.	.	5.82	5.82	0.92795	.	0.536313	0.20891	N	0.083840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.5671	16.8159	0.85733	0.0:0.0:1.0:0.0	.	.	.	.	X	235;124;186	.	ENSP00000314976:Q235X	Q	-	1	0	IL20RA	137371450	0.987000	0.35691	1.000000	0.80357	0.993000	0.82548	1.230000	0.32612	2.751000	0.94390	0.650000	0.86243	CAG		0.517	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		130	521	0	0	0	1	0	130	521				
ICAM1	3383	broad.mit.edu	37	19	10385700	10385700	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10385700G>A	ENST00000264832.3	+	2	652	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	109					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TCCTCACCGTGTACTGTGAGT	0.552																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(325-327)gtG>gtA		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						87.0	89.0	88.0					19																	10385700		2202	4298	6500	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10385700G>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.327G>A	19.37:g.10385700G>A						CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	p.V109V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	652	+			109					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.327G>A	CCDS12231.1																																																																																				0.552	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			21	580	0	0	0	1	0	21	580				
PCDH11X	27328	broad.mit.edu	37	X	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(226-228)Cga>Tga		protocadherin 11 X-linked							196.0	163.0	174.0					X																	91090729		2203	4300	6503	SO:0001587	stop_gained	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090729C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.226C>T	X.37:g.91090729C>T	ENSP00000362186:p.Arg76*					PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.R76*	p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1071	+			76			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	c.226C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.06	2.01	0.26516	.	0.078447	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6815	0.51461	0.3941:0.6059:0.0:0.0	.	.	.	.	X	76	.	ENSP00000298274:R76X	R	+	1	2	PCDH11X	90977385	0.654000	0.27367	0.960000	0.40013	0.236000	0.25371	0.527000	0.22987	0.784000	0.33661	0.506000	0.49869	CGA		0.443	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		166	468	0	0	0	1	0	166	468				
GTF2H1	2965	broad.mit.edu	37	11	18359773	18359773	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18359773T>G	ENST00000265963.4	+	4	625	c.465T>G	c.(463-465)tcT>tcG	p.S155S	GTF2H1_ENST00000453096.2_Silent_p.S155S|GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000534641.1_Silent_p.S39S	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	155					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CAGATAGTTCTTCCACATCCA	0.378								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(463-465)tcT>tcG	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							197.0	179.0	185.0					11																	18359773		2199	4293	6492	SO:0001819	synonymous_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18359773T>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.465T>G	11.37:g.18359773T>G						GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000534641.1_Silent_p.S39S|GTF2H1_ENST00000453096.2_Silent_p.S155S	p.S155S	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			4	625	+			155					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	37	c.465T>G	CCDS7838.1																																																																																				0.378	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		87	411	0	0	0	1	0	87	411				
ADRBK1	156	broad.mit.edu	37	11	67050268	67050268	+	Silent	SNP	C	C	T	rs150236476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67050268C>T	ENST00000308595.5	+	14	1496	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGAGATCGACCGCATGA	0.607																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1204-1206)atC>atT		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)	C		1,4399	2.1+/-5.4	0,1,2199	52.0	46.0	48.0		1206	-2.3	1.0	11	dbSNP_134	48	0,8590		0,0,4295	no	coding-synonymous	ADRBK1	NM_001619.3		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		402/690	67050268	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67050268C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1206C>T	11.37:g.67050268C>T						ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	p.I402I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		14	1496	+			402			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1206C>T	CCDS8156.1																																																																																				0.607	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		24	113	0	0	0	1	0	24	113				
PIP5K1B	8395	broad.mit.edu	37	9	71555659	71555659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555659C>T	ENST00000265382.3	+	14	1760	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	485					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTTCCTTATACGTCAATGAGC	0.473																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1453-1455)taC>taT		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							305.0	237.0	260.0					9																	71555659		2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71555659C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1455C>T	9.37:g.71555659C>T						PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	p.Y485Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	14	1760	+			485					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.1455C>T	CCDS6624.1																																																																																				0.473	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		153	593	0	0	0	1	0	153	593				
H6PD	9563	broad.mit.edu	37	1	9324735	9324735	+	Missense_Mutation	SNP	G	G	A	rs370332134		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324735G>A	ENST00000377403.2	+	5	2485	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	728	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CCACACCGCCGCATGAGCCTT	0.657																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2182-2184)cGc>cAc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						34.0	32.0	33.0					1																	9324735		2203	4298	6501	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324735G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2183G>A	1.37:g.9324735G>A	ENSP00000366620:p.Arg728His					H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	p.R728H	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2485	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	728			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2183G>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883390	0.91740	.	.	ENSG00000049239	ENST00000377403	T	0.71579	-0.58	5.72	5.72	0.89469	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.047987	0.85682	D	0.000000	D	0.91284	0.7252	H	0.98951	4.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94410	0.7631	10	0.87932	D	0	-37.7311	18.8652	0.92289	0.0:0.0:1.0:0.0	.	728	O95479	G6PE_HUMAN	H	728	ENSP00000366620:R728H	ENSP00000366620:R728H	R	+	2	0	H6PD	9247322	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.340000	0.97038	2.709000	0.92574	0.561000	0.74099	CGC		0.657	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		23	165	0	0	0	1	0	23	165				
TMEM41B	440026	broad.mit.edu	37	11	9335893	9335893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9335893C>T	ENST00000528080.1	-	1	434	c.96G>A	c.(94-96)gcG>gcA	p.A32A	TMEM41B_ENST00000527813.1_Silent_p.A32A|TMEM41B_ENST00000533723.1_Silent_p.A32A	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	32					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TGCTGCCAGGCGCCGCGAGAC	0.711																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(94-96)gcG>gcA		transmembrane protein 41B							11.0	11.0	11.0					11																	9335893		2189	4265	6454	SO:0001819	synonymous_variant	440026					integral to membrane		g.chr11:9335893C>T	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.96G>A	11.37:g.9335893C>T						TMEM41B_ENST00000527813.1_Silent_p.A32A|TMEM41B_ENST00000533723.1_Silent_p.A32A	p.A32A	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	1	434	-			32					D3DQU9|E9PP29|Q15055|Q4G0P0	Silent	SNP	ENST00000528080.1	37	c.96G>A	CCDS31424.1																																																																																				0.711	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			6	62	0	0	0	1	0	6	62				
CREG1	8804	broad.mit.edu	37	1	167517320	167517320	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167517320C>T	ENST00000370509.4	-	2	418	c.393G>A	c.(391-393)caG>caA	p.Q131Q	CREG1_ENST00000466652.1_5'Flank	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	131					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|transcription factor complex (GO:0005667)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)|transcription corepressor activity (GO:0003714)										AGAAGTTGGTCTGTGCCAAAG	0.398																																						ENST00000370509.4																			0											c.(391-393)caG>caA		cellular repressor of E1A-stimulated genes 1							156.0	142.0	146.0					1																	167517320		2203	4300	6503	SO:0001819	synonymous_variant	8804				cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity	g.chr1:167517320C>T	AF084523	CCDS1262.1	1q24	2008-02-05	2004-09-22	2004-09-22	ENSG00000143162	ENSG00000143162			2351	protein-coding gene	gene with protein product			"""cellular repressor of E1A-stimulated genes"""	CREG		9710587	Standard	NM_003851		Approved		uc001gel.3	O75629	OTTHUMG00000034682	ENST00000370509.4:c.393G>A	1.37:g.167517320C>T							p.Q131Q	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN			2	418	-			131					B2RDD4|Q8N9A3	Silent	SNP	ENST00000370509.4	37	c.393G>A	CCDS1262.1																																																																																				0.398	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083911.1	NM_003851		8	451	0	0	0	1	0	8	451				
MVD	4597	broad.mit.edu	37	16	88723885	88723885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88723885G>A	ENST00000301012.3	-	4	391	c.362C>T	c.(361-363)gCt>gTt	p.A121V	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	121					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGGCCCGCAGCCGTGGGGAA	0.687																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(361-363)gCt>gTt		mevalonate (diphospho) decarboxylase							31.0	26.0	27.0					16																	88723885		2197	4298	6495	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88723885G>A	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.362C>T	16.37:g.88723885G>A	ENSP00000301012:p.Ala121Val					MVD_ENST00000568709.1_5'UTR	p.A121V	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	4	391	-			121					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.362C>T	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450964	0.84209	.	.	ENSG00000167508	ENST00000301012	D	0.86297	-2.1	5.18	5.18	0.71444	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.104735	0.64402	D	0.000003	D	0.95370	0.8497	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.96491	0.9364	10	0.87932	D	0	-19.8806	18.6462	0.91410	0.0:0.0:1.0:0.0	.	121	P53602	MVD1_HUMAN	V	121	ENSP00000301012:A121V	ENSP00000301012:A121V	A	-	2	0	MVD	87251386	1.000000	0.71417	0.954000	0.39281	0.274000	0.26718	6.912000	0.75753	2.574000	0.86865	0.561000	0.74099	GCT		0.687	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		6	146	0	0	0	1	0	6	146				
PER2	8864	broad.mit.edu	37	2	239161903	239161903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161903G>A	ENST00000254657.3	-	19	3040	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	921	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAGGCCTGGGGCAGGTTTGGG	0.627																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2761-2763)Ccc>Tcc		period circadian clock 2							41.0	47.0	45.0					2																	239161903		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161903G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2761C>T	2.37:g.239161903G>A	ENSP00000254657:p.Pro921Ser					PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	p.P921S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3040	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	921			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2761C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	5.974	0.363685	0.11296	.	.	ENSG00000132326	ENST00000254657	T	0.12569	2.67	3.89	3.89	0.44902	.	0.717806	0.10729	U	0.640805	T	0.11153	0.0272	L	0.38838	1.175	0.31370	N	0.680264	B;B	0.34290	0.447;0.192	B;B	0.28638	0.092;0.033	T	0.05194	-1.0900	10	0.14656	T	0.56	-28.9827	14.1684	0.65493	0.0:0.0:1.0:0.0	.	921;921	B4DH14;O15055	.;PER2_HUMAN	S	921	ENSP00000254657:P921S	ENSP00000254657:P921S	P	-	1	0	PER2	238826642	0.997000	0.39634	0.939000	0.37840	0.168000	0.22595	2.642000	0.46596	2.102000	0.63906	0.549000	0.68633	CCC		0.627	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		74	384	0	0	0	1	0	74	384				
MTFR1L	56181	broad.mit.edu	37	1	26150190	26150190	+	Missense_Mutation	SNP	G	G	T	rs200941313		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26150190G>T	ENST00000374301.3	+	3	388	c.80G>T	c.(79-81)aGa>aTa	p.R27I	MTFR1L_ENST00000374303.2_Missense_Mutation_p.R27I|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000374300.3_Missense_Mutation_p.R27I|MTFR1L_ENST00000526894.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.R27I|RP1-317E23.6_ENST00000527604.1_3'UTR|AL020996.1_ENST00000536896.1_5'Flank|MTFR1L_ENST00000474295.1_Missense_Mutation_p.R27I	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	27																	GTAGTAAGAAGAATTGGGACC	0.532																																						ENST00000466284.1																			0											c.(79-81)aGa>aTa		mitochondrial fission regulator 1-like							62.0	64.0	63.0					1																	26150190		2029	4193	6222	SO:0001583	missense	56181							g.chr1:26150190G>T		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.80G>T	1.37:g.26150190G>T	ENSP00000363419:p.Arg27Ile					MTFR1L_ENST00000474295.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000374300.3_Missense_Mutation_p.R27I|RP1-317E23.6_ENST00000527604.1_3'UTR|MTFR1L_ENST00000374301.3_Missense_Mutation_p.R27I|MTFR1L_ENST00000526894.1_Missense_Mutation_p.R27I|MTFR1L_ENST00000374303.2_Missense_Mutation_p.R27I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.R27I|MTFR1L_ENST00000469815.1_3'UTR	p.R27I							2	1662	+								A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.80G>T	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245906	0.59103	.	.	ENSG00000117640	ENST00000424294;ENST00000374303;ENST00000529116;ENST00000474295;ENST00000526894;ENST00000374307;ENST00000525713;ENST00000374301;ENST00000526158;ENST00000374300;ENST00000466284	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	N	0.25890	0.77	0.80722	D	1	P;B;B;B	0.48640	0.913;0.017;0.264;0.021	P;B;B;B	0.52109	0.69;0.02;0.082;0.023	T	0.04454	-1.0950	10	0.14252	T	0.57	-2.9228	15.1749	0.72903	0.0:0.0:0.8589:0.1411	.	60;27;27;27	B4DRE5;Q9H019-3;Q9H019-2;Q9H019	.;.;.;FA54B_HUMAN	I	27	ENSP00000390841:R27I;ENSP00000363421:R27I;ENSP00000434038:R27I;ENSP00000435461:R27I;ENSP00000432227:R27I;ENSP00000363426:R27I;ENSP00000434120:R27I;ENSP00000363419:R27I;ENSP00000431278:R27I;ENSP00000363418:R27I;ENSP00000434751:R27I	ENSP00000363418:R27I	R	+	2	0	FAM54B	26022777	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.974000	0.70465	2.677000	0.91161	0.561000	0.74099	AGA		0.532	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		13	187	1	0	0.0202918	1	0.0203784	13	187				
ATP2A2	488	broad.mit.edu	37	12	110784169	110784169	+	Missense_Mutation	SNP	C	C	T	rs151157805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784169C>T	ENST00000539276.2	+	20	3132	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Missense_Mutation_p.S981L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1008					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCTCGTTCTCGGCATGCACC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19766	0.0		0.001	False		,,,				2504	0.0					ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2941-2943)tCg>tTg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2		C	,LEU/SER	0,4406		0,0,2203	91.0	73.0	79.0		,3023	4.3	0.9	12	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	ATP2A2	NM_001681.3,NM_170665.3	,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,1008/1043	110784169	1,13005	2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110784169C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.3023C>T	12.37:g.110784169C>T	ENSP00000440045:p.Ser1008Leu					ATP2A2_ENST00000539276.2_Missense_Mutation_p.S1008L|ATP2A2_ENST00000308664.6_Intron	p.S981L			P16615	AT2A2_HUMAN			19	3505	+			1008					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2942C>T	CCDS9144.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070835	0.36566	0.0	1.16E-4	ENSG00000174437	ENST00000395494;ENST00000539276	D;D	0.94723	-3.5;-3.47	6.17	4.32	0.51571	.	0.230717	0.46442	D	0.000287	D	0.86121	0.5857	N	0.08118	0	0.36457	D	0.866463	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.80885	-0.1182	9	.	.	.	.	13.1912	0.59711	0.1222:0.7457:0.1321:0.0	.	981;1008	P16615-4;P16615	.;AT2A2_HUMAN	L	981;1008	ENSP00000378872:S981L;ENSP00000440045:S1008L	.	S	+	2	0	ATP2A2	109268552	1.000000	0.71417	0.865000	0.33974	0.995000	0.86356	3.238000	0.51352	0.894000	0.36317	0.655000	0.94253	TCG		0.527	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		76	184	0	0	0	1	0	76	184				
MYLK2	85366	broad.mit.edu	37	20	30418629	30418629	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418629A>C	ENST00000375994.2	+	8	1505	c.1232A>C	c.(1231-1233)aAc>aCc	p.N411T	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.N411T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGCCAGAGAACATCCTGTGT	0.622																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1231-1233)aAc>aCc		myosin light chain kinase 2							162.0	161.0	161.0					20																	30418629		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30418629A>C	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1232A>C	20.37:g.30418629A>C	ENSP00000365162:p.Asn411Thr					MYLK2_ENST00000375985.4_Missense_Mutation_p.N411T|MYLK2_ENST00000468730.1_3'UTR	p.N411T			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		8	1505	+			411			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1232A>C	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934217	0.73442	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	D;D	0.91996	-2.95;-2.95	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.96197	0.8760	M	0.89785	3.06	0.53688	D	0.999973	D	0.65815	0.995	D	0.72075	0.976	D	0.96636	0.9470	9	0.87932	D	0	.	12.0947	0.53748	1.0:0.0:0.0:0.0	.	411	Q9H1R3	MYLK2_HUMAN	T	411	ENSP00000365162:N411T;ENSP00000365152:N411T	ENSP00000365152:N411T	N	+	2	0	MYLK2	29882290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.182000	0.77689	1.678000	0.50952	0.459000	0.35465	AAC		0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		202	1127	0	0	0	1	0	202	1127				
DNAJC5	80331	broad.mit.edu	37	20	62560750	62560750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560750G>A	ENST00000360864.4	+	3	346	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	65	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAACGCGCACGCCATCCTCAC	0.547																																						ENST00000360864.4																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5						c.(193-195)Gcc>Acc		DnaJ (Hsp40) homolog, subfamily C, member 5							158.0	120.0	133.0					20																	62560750		2203	4300	6503	SO:0001583	missense	80331				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr20:62560750G>A		CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.193G>A	20.37:g.62560750G>A	ENSP00000354111:p.Ala65Thr					DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	p.A65T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN			3	346	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		65			J.		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	37	c.193G>A	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196237	0.58126	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.30182	1.54;1.54	5.4	4.45	0.53987	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.102238	0.64402	N	0.000002	T	0.19087	0.0458	N	0.16016	0.355	0.53688	D	0.999977	B;B	0.18310	0.024;0.027	B;B	0.16289	0.013;0.015	T	0.03910	-1.0993	10	0.23891	T	0.37	.	14.429	0.67236	0.0717:0.0:0.9283:0.0	.	65;65	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	65	ENSP00000358927:A65T;ENSP00000354111:A65T	ENSP00000354111:A65T	A	+	1	0	DNAJC5	62031194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.517000	0.53443	1.419000	0.47118	0.650000	0.86243	GCC		0.547	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		87	309	0	0	0	1	0	87	309				
TCHH	7062	broad.mit.edu	37	1	152084576	152084576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152084576G>A	ENST00000368804.1	-	2	1116	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	373	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctcgcgcctctcctcc	0.721																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1117-1119)Cgc>Tgc		trichohyalin							6.0	9.0	8.0					1																	152084576		1424	3236	4660	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084576G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1117C>T	1.37:g.152084576G>A	ENSP00000357794:p.Arg373Cys						p.R373C	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1116	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		373			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1117C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	8.557	0.876854	0.17395	.	.	ENSG00000159450	ENST00000368804	T	0.06371	3.31	3.47	1.51	0.23008	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	P	0.35155	0.487	B	0.18561	0.022	T	0.47971	-0.9075	9	0.44086	T	0.13	.	6.206	0.20604	0.114:0.1904:0.6956:0.0	.	373	Q07283	TRHY_HUMAN	C	373	ENSP00000357794:R373C	ENSP00000357794:R373C	R	-	1	0	TCHH	150351200	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.132000	0.15891	0.193000	0.20303	-0.285000	0.09966	CGC		0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		45	276	0	0	0	1	0	45	276				
RBM45	129831	broad.mit.edu	37	2	178977542	178977542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178977542G>A	ENST00000286070.5	+	1	361	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	90	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CATGGCCAGTGCCTCGGCCCC	0.657																																						ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(268-270)tGc>tAc		RNA binding motif protein 45							45.0	45.0	45.0					2																	178977542		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977542G>A	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.269G>A	2.37:g.178977542G>A	ENSP00000286070:p.Cys90Tyr						p.C90Y	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	361	+			90			RRM 1.		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.269G>A	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187412	0.57909	.	.	ENSG00000155636	ENST00000286070	D	0.85556	-2.0	4.73	2.9	0.33743	.	0.230414	0.43919	N	0.000503	T	0.74122	0.3675	N	0.03983	-0.305	0.44595	D	0.997569	D	0.54207	0.965	P	0.51135	0.66	T	0.77517	-0.2558	10	0.66056	D	0.02	-5.4128	9.7539	0.40492	0.169:0.0:0.831:0.0	.	90	Q8IUH3-3	.	Y	90	ENSP00000286070:C90Y	ENSP00000286070:C90Y	C	+	2	0	RBM45	178685788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.216000	0.58540	1.122000	0.41944	0.563000	0.77884	TGC		0.657	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		22	331	0	0	0	1	0	22	331				
TMEM180	79847	broad.mit.edu	37	10	104230514	104230514	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104230514C>T	ENST00000238936.4	+	5	581	c.344C>T	c.(343-345)gCg>gTg	p.A115V	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	115						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGTTCCTGGCGTTCTGGGTG	0.692																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(343-345)gCg>gTg		transmembrane protein 180							69.0	73.0	72.0					10																	104230514		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104230514C>T	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.344C>T	10.37:g.104230514C>T	ENSP00000238936:p.Ala115Val					TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	p.A115V	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	581	+		Colorectal(252;0.122)	115					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.344C>T	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537501	0.45176	.	.	ENSG00000138111	ENST00000238936	D	0.83163	-1.69	5.29	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);	0.048256	0.85682	N	0.000000	T	0.78368	0.4272	L	0.55481	1.735	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.71876	-0.4460	10	0.19590	T	0.45	.	13.7692	0.63015	0.0:0.9256:0.0:0.0744	.	115	Q14CX5	TM180_HUMAN	V	115	ENSP00000238936:A115V	ENSP00000238936:A115V	A	+	2	0	TMEM180	104220504	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	4.901000	0.63259	1.220000	0.43490	0.511000	0.50034	GCG		0.692	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		181	694	0	0	0	1	0	181	694				
SCRIB	23513	broad.mit.edu	37	8	144890804	144890804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890804G>A	ENST00000320476.3	-	15	2096	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	SCRIB_ENST00000356994.2_Missense_Mutation_p.A697V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	697	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAAACCACGGCCCCCTCCTT	0.637																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2089-2091)gCc>gTc		scribbled planar cell polarity protein							153.0	131.0	139.0					8																	144890804		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890804G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2090C>T	8.37:g.144890804G>A	ENSP00000322938:p.Ala697Val					SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V|SCRIB_ENST00000320476.3_Missense_Mutation_p.A697V	p.A697V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	2096	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		697			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2090C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.303627	0.40795	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.37058	1.45;1.42;1.22;1.91	4.2	2.34	0.29019	.	.	.	.	.	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	0.999991	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.23691	-1.0181	9	0.26408	T	0.33	.	6.0112	0.19578	0.1011:0.0:0.7118:0.1871	.	697;697	Q14160;Q14160-3	SCRIB_HUMAN;.	V	697;697;616;66;15	ENSP00000349486:A697V;ENSP00000322938:A697V;ENSP00000366756:A616V;ENSP00000433546:A15V	ENSP00000322938:A697V	A	-	2	0	SCRIB	144962792	0.139000	0.22563	0.001000	0.08648	0.412000	0.31113	2.734000	0.47368	0.342000	0.23796	0.401000	0.26515	GCC		0.637	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		44	199	0	0	0	1	0	44	199				
ZNF578	147660	broad.mit.edu	37	19	53014089	53014089	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53014089T>G	ENST00000421239.2	+	6	699	c.455T>G	c.(454-456)aTt>aGt	p.I152S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AACAAGCCTATTAAAGATCAG	0.408																																						ENST00000421239.2																			0											c.(454-456)aTt>aGt		zinc finger protein 578							153.0	153.0	153.0					19																	53014089		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014089T>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.455T>G	19.37:g.53014089T>G	ENSP00000459216:p.Ile152Ser						p.I152S	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	699	+			62					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.455T>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	12.89	2.074217	0.36566	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	T	0.30823	0.0777	L	0.41415	1.275	0.09310	N	1	P	0.52061	0.95	P	0.46718	0.525	T	0.11060	-1.0603	7	.	.	.	.	6.038	0.19718	0.0:0.0:0.0:1.0	.	152	G3V4F6	.	S	152	.	.	I	+	2	0	ZNF578	57705901	0.000000	0.05858	0.019000	0.16419	0.195000	0.23768	0.305000	0.19254	0.574000	0.29417	0.113000	0.15668	ATT		0.408	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		154	725	0	0	0	1	0	154	725				
ZNF354A	6940	broad.mit.edu	37	5	178152398	178152398	+	Missense_Mutation	SNP	C	C	T	rs199561646		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178152398C>T	ENST00000335815.2	-	4	432	c.235G>A	c.(235-237)Ggt>Agt	p.G79S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACGCCAGAACCGTCTTTCTCC	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		18657	0.001		0.0	False		,,,				2504	0.0					ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(235-237)Ggt>Agt		zinc finger protein 354A							151.0	144.0	147.0					5																	178152398		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178152398C>T	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.235G>A	5.37:g.178152398C>T	ENSP00000337122:p.Gly79Ser						p.G79S	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	4	432	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	79			KRAB.		Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.235G>A	CCDS4438.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.542	0.100574	0.08731	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.06449	3.3;6.03	3.25	0.274	0.15654	Krueppel-associated box (1);	.	.	.	.	T	0.04497	0.0123	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48468	-0.9033	9	0.10902	T	0.67	-1.4818	7.6338	0.28255	0.0:0.3221:0.0:0.6779	.	79	O60765	Z354A_HUMAN	S	79	ENSP00000337122:G79S;ENSP00000429675:G79S	ENSP00000337122:G79S	G	-	1	0	ZNF354A	178085004	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.242000	0.02908	-0.220000	0.09988	-1.347000	0.01240	GGT		0.527	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		141	682	0	0	0	1	0	141	682				
FAM208A	23272	broad.mit.edu	37	3	56667861	56667861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56667861C>A	ENST00000493960.2	-	18	2968	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	FAM208A_ENST00000355628.5_Missense_Mutation_p.K925N|FAM208A_ENST00000431842.2_Missense_Mutation_p.K549N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	986							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CAGTGGTGCCCTTTAGTGTGT	0.537																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(1645-1647)aaG>aaT		family with sequence similarity 208, member A							46.0	42.0	43.0					3																	56667861		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56667861C>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2958G>T	3.37:g.56667861C>A	ENSP00000417509:p.Lys986Asn					FAM208A_ENST00000493960.2_Missense_Mutation_p.K986N|FAM208A_ENST00000355628.5_Missense_Mutation_p.K925N	p.K549N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			11	2571	-			986					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.1647G>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708249	0.48412	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.16073	2.38;2.37;2.76	5.62	2.78	0.32641	.	0.000000	0.64402	D	0.000001	T	0.30230	0.0758	L	0.48642	1.525	0.32880	D	0.510381	P;P;D;D	0.89917	0.909;0.865;1.0;0.995	P;P;D;P	0.74023	0.455;0.519;0.982;0.829	T	0.32188	-0.9916	10	0.38643	T	0.18	-16.7564	10.9266	0.47195	0.0:0.7829:0.0:0.2171	.	986;925;549;986	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	N	549;986;925	ENSP00000399410:K549N;ENSP00000417509:K986N;ENSP00000347845:K925N	ENSP00000347845:K925N	K	-	3	2	C3orf63	56642901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.510000	0.35790	0.813000	0.34350	0.650000	0.86243	AAG		0.537	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		35	142	1	0	1.45844e-13	1	1.57644e-13	35	142				
SEP15	9403	broad.mit.edu	37	1	87329266	87329266	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87329266A>C	ENST00000331835.5	-	5	642	c.380T>G	c.(379-381)gTa>gGa	p.V127G	SEP15_ENST00000401030.3_Missense_Mutation_p.Y141D|SEP15_ENST00000370554.1_Missense_Mutation_p.C110W|SEP15_ENST00000469566.1_5'UTR	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		127					'de novo' posttranslational protein folding (GO:0051084)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		AAGCTTTAATACAGGGTCTGA	0.403																																						ENST00000331835.5																			0											c.(379-381)gTa>gGa									101.0	91.0	94.0					1																	87329266		1882	4104	5986	SO:0001583	missense	0							g.chr1:87329266A>C																												ENST00000331835.5:c.380T>G	1.37:g.87329266A>C	ENSP00000328729:p.Val127Gly					RP4-604K5.1_ENST00000469566.1_5'UTR|RP4-604K5.1_ENST00000401030.3_Missense_Mutation_p.Y141D|RP4-604K5.1_ENST00000370554.1_Missense_Mutation_p.C110W	p.V127G	NM_004261.3	NP_004252.2					5	642	-								Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	Missense_Mutation	SNP	ENST00000331835.5	37	c.380T>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.27|18.27|18.27	3.585955|3.585955|3.585955	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000183291|ENSG00000183291|ENSG00000183291	ENST00000370554|ENST00000331835|ENST00000401030	.|.|.	.|.|.	.|.|.	5.68|5.68|5.68	5.68|5.68|5.68	0.88126|0.88126|0.88126	.|Thioredoxin-like fold (1);|.	.|0.272182|.	.|0.30809|.	.|N|.	.|0.008825|.	T|T|T	0.54431|0.54431|0.54431	0.1858|0.1858|0.1858	.|.|.	.|.|.	.|.|.	0.30850|0.30850|0.30850	N|N|N	0.734679|0.734679|0.734679	D|P|.	0.53885|0.49783|.	0.963|0.928|.	B|P|.	0.43950|0.51918|.	0.437|0.684|.	T|T|T	0.59306|0.59306|0.59306	-0.7479|-0.7479|-0.7479	7|8|5	0.87932|0.52906|0.87932	D|T|D	0|0.07|0	-23.4263|-23.4263|-23.4263	16.2107|16.2107|16.2107	0.82151|0.82151|0.82151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	110|127|.	O60613-2|O60613|.	.|SEP15_HUMAN|.	W|G|D	110|127|141	.|.|.	ENSP00000359585:C110W|ENSP00000328729:V127G|ENSP00000383810:Y141D	C|V|Y	-|-|-	3|2|1	2|0|0	RP4-604K5.1|RP4-604K5.1|RP4-604K5.1	87101854|87101854|87101854	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.933000|0.933000|0.933000	0.37362|0.37362|0.37362	0.506000|0.506000|0.506000	0.33950|0.33950|0.33950	9.287000|9.287000|9.287000	0.95975|0.95975|0.95975	2.293000|2.293000|2.293000	0.77203|0.77203|0.77203	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	TGT|GTA|TAT		0.403	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1			16	142	0	0	0	1	0	16	142				
MYO3A	53904	broad.mit.edu	37	10	26462912	26462912	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26462912A>G	ENST00000265944.5	+	30	3885	c.3719A>G	c.(3718-3720)tAc>tGc	p.Y1240C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1240					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCCAGAGTTACTATCAGAGG	0.463																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3718-3720)tAc>tGc		myosin IIIA							104.0	106.0	105.0					10																	26462912		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462912A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3719A>G	10.37:g.26462912A>G	ENSP00000265944:p.Tyr1240Cys					MYO3A_ENST00000543632.1_Intron	p.Y1240C	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3885	+			1240					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3719A>G	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	6.388	0.439646	0.12104	.	.	ENSG00000095777	ENST00000265944	T	0.77098	-1.07	4.89	-0.76	0.11041	.	1.242500	0.05268	N	0.516955	T	0.65133	0.2662	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52373	-0.8584	10	0.62326	D	0.03	.	6.3292	0.21260	0.4619:0.0:0.0679:0.4702	.	1240	Q8NEV4	MYO3A_HUMAN	C	1240	ENSP00000265944:Y1240C	ENSP00000265944:Y1240C	Y	+	2	0	MYO3A	26502918	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.522000	0.22909	-0.321000	0.08627	-0.336000	0.08194	TAC		0.463	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		77	320	0	0	0	1	0	77	320				
CECR6	27439	broad.mit.edu	37	22	17601069	17601069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17601069C>T	ENST00000331437.3	-	1	1074	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	317	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ATAAGCCAGGCCAGGTAGGCG	0.731																																						ENST00000331437.3																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(949-951)Gcc>Acc		cat eye syndrome chromosome region, candidate 6							59.0	49.0	52.0					22																	17601069		2203	4295	6498	SO:0001583	missense	27439							g.chr22:17601069C>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.949G>A	22.37:g.17601069C>T	ENSP00000329318:p.Ala317Thr					CECR6_ENST00000399875.1_Intron	p.A317T	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1074	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	317			Ala-rich.		A8MYY1	Missense_Mutation	SNP	ENST00000331437.3	37	c.949G>A	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	c	17.33	3.363564	0.61513	.	.	ENSG00000183307	ENST00000331437	.	.	.	3.51	3.51	0.40186	.	0.000000	0.64402	U	0.000013	T	0.64670	0.2619	L	0.32530	0.975	0.49299	D	0.999779	D	0.76494	0.999	D	0.74023	0.982	T	0.68307	-0.5443	9	0.59425	D	0.04	.	13.9866	0.64339	0.0:1.0:0.0:0.0	.	317	Q9BXQ6	CECR6_HUMAN	T	317	.	ENSP00000329318:A317T	A	-	1	0	CECR6	15981069	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.099000	0.64554	1.690000	0.51089	0.450000	0.29827	GCC		0.731	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		84	314	0	0	0	1	0	84	314				
C22orf46	79640	broad.mit.edu	37	22	42095601	42095601	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42095601C>T	ENST00000402966.1	+	0	4975				MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000401548.3_Missense_Mutation_p.A20V|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_001142964.1	NP_001136436.1	C9J442	CV046_HUMAN	chromosome 22 open reading frame 46							extracellular region (GO:0005576)		p.A20V(1)									GAGGAAGAGGCGGCGCTTCTA	0.721																																						ENST00000401548.3																			1	Substitution - Missense(1)	p.A20V(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(58-60)gCg>gTg		meiosis inhibitor 1							17.0	25.0	22.0					22																	42095601		1956	4123	6079	SO:0001628	intergenic_variant	150365						binding	g.chr22:42095601C>T	BC007210	CCDS46717.1	22q13.2	2011-01-25			ENSG00000184208	ENSG00000184208			26294	protein-coding gene	gene with protein product						12477932	Standard	NM_001142964		Approved	FLJ23584, CTA-216E10.6	uc003bax.1	C9J442	OTTHUMG00000151188		22.37:g.42095601C>T						MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	p.A20V	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			1	99	+			20						Missense_Mutation	SNP	ENST00000402966.1	37	c.59C>T	CCDS46717.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005677	0.35415	.	.	ENSG00000167077	ENST00000401548	T	0.19532	2.14	4.56	4.56	0.56223	.	0.316936	0.26738	N	0.022749	T	0.18425	0.0442	L	0.54323	1.7	0.80722	D	1	P;P	0.43287	0.802;0.802	B;B	0.35182	0.197;0.197	T	0.02567	-1.1140	10	0.66056	D	0.02	.	9.9904	0.41868	0.2018:0.7982:0.0:0.0	.	20;20	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	V	20	ENSP00000384115:A20V	ENSP00000384115:A20V	A	+	2	0	MEI1	40425547	0.923000	0.31300	1.000000	0.80357	0.053000	0.15095	2.154000	0.42291	2.366000	0.80165	0.467000	0.42956	GCG		0.721	C22orf46-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321678.2	NM_024588		12	186	0	0	0	1	0	12	186				
SLC8A2	6543	broad.mit.edu	37	19	47969093	47969093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47969093G>A	ENST00000236877.6	-	2	963	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	190					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGATCTTGCGGCTCTCGCCG	0.572																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(568-570)Cgc>Tgc		solute carrier family 8 (sodium/calcium exchanger), member 2							66.0	47.0	53.0					19																	47969093		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969093G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.568C>T	19.37:g.47969093G>A	ENSP00000236877:p.Arg190Cys					SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	p.R190C	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	963	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	190					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.568C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280534	0.80692	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.66460	-0.21	4.04	4.04	0.47022	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89913	0.4053	10	0.87932	D	0	.	15.1426	0.72623	0.0:0.0:1.0:0.0	.	18;190	E9PGS7;Q9UPR5	.;NAC2_HUMAN	C	18;190	ENSP00000236877:R190C	ENSP00000236877:R190C	R	-	1	0	SLC8A2	52660905	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.695000	0.47043	2.098000	0.63641	0.462000	0.41574	CGC		0.572	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			32	167	0	0	0	1	0	32	167				
TAS2R16	50833	broad.mit.edu	37	7	122635033	122635033	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635033A>G	ENST00000249284.2	-	1	721	c.656T>C	c.(655-657)aTg>aCg	p.M219T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	219					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCGCGCTTTCATGCTTGGATT	0.443																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(655-657)aTg>aCg		taste receptor, type 2, member 16							156.0	129.0	138.0					7																	122635033		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635033A>G	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.656T>C	7.37:g.122635033A>G	ENSP00000249284:p.Met219Thr						p.M219T	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	721	-			219					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.656T>C	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.652907	0.00785	.	.	ENSG00000128519	ENST00000249284	T	0.00628	6.11	4.46	-1.31	0.09230	.	0.944392	0.08725	N	0.902914	T	0.00384	0.0012	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.18871	0.023	T	0.44877	-0.9299	10	0.02654	T	1	.	0.9905	0.01455	0.4151:0.1669:0.095:0.323	.	219	Q9NYV7	T2R16_HUMAN	T	219	ENSP00000249284:M219T	ENSP00000249284:M219T	M	-	2	0	TAS2R16	122422269	0.000000	0.05858	0.035000	0.18076	0.126000	0.20510	-0.296000	0.08287	-0.286000	0.09076	-0.316000	0.08728	ATG		0.443	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		10	475	0	0	0	1	0	10	475				
TTN	7273	broad.mit.edu	37	2	179474270	179474270	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474270C>A	ENST00000591111.1	-	223	47068	c.46844G>T	c.(46843-46845)aGc>aTc	p.S15615I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S17256I|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15615	Ig-like 98.				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)			CACTTCTAGGCTTGTTCTCAG	0.323																																						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.(51766-51768)aGc>aTc		titin							113.0	107.0	109.0					2																	179474270		1856	4099	5955	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474270C>A	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.46844G>T	2.37:g.179474270C>A	ENSP00000465570:p.Ser15615Ile					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S15615I	p.S17256I	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)		273	51991	-			15615			Fibronectin type-III 25.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.51767G>T		.	.	.	.	.	.	.	.	.	.	C	12.34	1.908248	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.85	4.93	0.64822	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52468	0.1736	L	0.61036	1.89	0.41827	D	0.99005	P;P;P;P	0.38677	0.642;0.642;0.642;0.642	P;P;P;P	0.48425	0.577;0.577;0.577;0.577	T	0.56147	-0.8027	9	0.87932	D	0	.	13.7731	0.63038	0.0:0.8119:0.1204:0.0677	.	8191;8316;8383;15615	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14688;8191;8383;8316;8191	ENSP00000343764:S14688I;ENSP00000434586:S8191I;ENSP00000340554:S8383I;ENSP00000352154:S8316I	ENSP00000340554:S8383I	S	-	2	0	TTN	179182515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.870000	0.56070	2.753000	0.94483	0.655000	0.94253	AGC		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		78	399	1	0	1.68136e-41	1	2.04314e-41	78	399				
FAM149A	25854	broad.mit.edu	37	4	187088339	187088339	+	Missense_Mutation	SNP	C	C	T	rs201664528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187088339C>T	ENST00000356371.5	+	13	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L|FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	724										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TTCCAGCAGTCGGATACGCCT	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20639	0.0		0.0	False		,,,				2504	0.0					ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(2170-2172)tCg>tTg		family with sequence similarity 149, member A							108.0	109.0	109.0					4																	187088339		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187088339C>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2171C>T	4.37:g.187088339C>T	ENSP00000348732:p.Ser724Leu					FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L|FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L|FAM149A_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L	p.S724L			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	13	2171	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	724					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.2171C>T		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	8.648|8.648	0.897607|0.897607	0.17686|0.17686	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|T;T;T;T;T;T	.|0.14391	.|2.56;2.51;2.56;2.56;2.56;2.56	5.62|5.62	-0.166|-0.166	0.13351|0.13351	.|.	.|0.864286	.|0.10118	.|N	.|0.713851	T|T	0.12603|0.12603	0.0306|0.0306	L|L	0.41824|0.41824	1.3|1.3	0.20403|0.20403	N|N	0.999901|0.999901	.|B;B	.|0.17667	.|0.023;0.017	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.42905	.|T	.|0.14	-0.0171|-0.0171	12.6812|12.6812	0.56922|0.56922	0.0:0.6903:0.0:0.3097|0.0:0.6903:0.0:0.3097	.|.	.|723;724	.|A5PLN7-3;A5PLN7	.|.;F149A_HUMAN	W|L	111|433;724;433;433;433;433	.|ENSP00000426835:S433L;ENSP00000348732:S724L;ENSP00000227065:S433L;ENSP00000427155:S433L;ENSP00000424380:S433L;ENSP00000374005:S433L	.|ENSP00000227065:S433L	R|S	+|+	1|2	2|0	FAM149A|FAM149A	187325333|187325333	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.223000|-0.223000	0.09177|0.09177	-0.404000|-0.404000	0.07610|0.07610	-2.368000|-2.368000	0.00236|0.00236	CGG|TCG		0.378	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		135	452	0	0	0	1	0	135	452				
ZNFX1	57169	broad.mit.edu	37	20	47865209	47865209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47865209C>T	ENST00000396105.1	-	14	4598	c.4352G>A	c.(4351-4353)aGc>aAc	p.S1451N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1451							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCGAAGCAGCTGTGGCAGGA	0.567																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4351-4353)aGc>aAc		zinc finger, NFX1-type containing 1							45.0	44.0	44.0					20																	47865209		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865209C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4352G>A	20.37:g.47865209C>T	ENSP00000379412:p.Ser1451Asn					ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N|ZNFX1_ENST00000371754.4_Intron	p.S1451N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4598	-			1451					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4352G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053567	0.19907	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56776	0.44;0.44	6.07	3.83	0.44106	.	0.355484	0.33235	N	0.005129	T	0.39358	0.1075	L	0.43757	1.38	0.23886	N	0.99656	B	0.02656	0.0	B	0.06405	0.002	T	0.15549	-1.0433	10	0.25106	T	0.35	-19.6266	7.0874	0.25266	0.0:0.6048:0.2292:0.166	.	1451	Q9P2E3	ZNFX1_HUMAN	N	1451	ENSP00000360817:S1451N;ENSP00000379412:S1451N	ENSP00000360817:S1451N	S	-	2	0	ZNFX1	47298616	0.006000	0.16342	1.000000	0.80357	0.907000	0.53573	0.683000	0.25349	1.578000	0.49821	0.655000	0.94253	AGC		0.567	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		48	202	0	0	0	1	0	48	202				
NCOR2	9612	broad.mit.edu	37	12	124885186	124885186	+	Silent	SNP	G	G	A	rs542671777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885186G>A	ENST00000405201.1	-	15	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000356219.3_Silent_p.N558N|NCOR2_ENST00000404121.2_Silent_p.N128N|NCOR2_ENST00000397355.1_Silent_p.N558N|NCOR2_ENST00000404621.1_Silent_p.N557N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	558					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTTCTCGTCGTTGTCCTCCC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17384	0.0		0.0	False		,,,				2504	0.0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1672-1674)aaC>aaT		nuclear receptor corepressor 2							146.0	129.0	135.0					12																	124885186		1951	4148	6099	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124885186G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1674C>T	12.37:g.124885186G>A						NCOR2_ENST00000397355.1_Silent_p.N558N|NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000405201.1_Silent_p.N558N|NCOR2_ENST00000404621.1_Silent_p.N557N|NCOR2_ENST00000404121.2_Silent_p.N128N	p.N558N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	16	1829	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		558					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.1674C>T	CCDS41858.2																																																																																				0.587	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		128	670	0	0	0	1	0	128	670				
CNNM4	26504	broad.mit.edu	37	2	97427930	97427930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427930G>A	ENST00000377075.2	+	1	1292	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	398	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.S398S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACACCATGTCGGAGATAATGG	0.502																																						ENST00000377075.2																			1	Substitution - coding silent(1)	p.S398S(1)	lung(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1192-1194)tcG>tcA		cyclin M4							114.0	103.0	107.0					2																	97427930		2203	4300	6503	SO:0001819	synonymous_variant	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427930G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1194G>A	2.37:g.97427930G>A							p.S398S	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1292	+			398			CBS 1.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	ENST00000377075.2	37	c.1194G>A	CCDS2024.2																																																																																				0.502	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		86	396	0	0	0	1	0	86	396				
PDCD11	22984	broad.mit.edu	37	10	105164918	105164918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105164918C>A	ENST00000369797.3	+	5	636	c.542C>A	c.(541-543)gCt>gAt	p.A181D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	181					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGCTGAGTGCTGAGGCCCTG	0.562																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(541-543)gCt>gAt		programmed cell death 11							166.0	143.0	151.0					10																	105164918		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105164918C>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.542C>A	10.37:g.105164918C>A	ENSP00000358812:p.Ala181Asp						p.A181D	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	5	636	+		Colorectal(252;0.0747)|Breast(234;0.128)	181					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.542C>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001566	0.74818	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17854	2.25	4.87	4.87	0.63330	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.239585	0.43579	D	0.000550	T	0.15176	0.0366	L	0.39898	1.24	0.52501	D	0.999958	B	0.34264	0.446	B	0.29524	0.103	T	0.06356	-1.0831	10	0.23302	T	0.38	-7.0362	17.6017	0.88027	0.0:1.0:0.0:0.0	.	181	Q14690	RRP5_HUMAN	D	181	ENSP00000358812:A181D	ENSP00000358812:A181D	A	+	2	0	PDCD11	105154908	0.934000	0.31675	0.999000	0.59377	0.986000	0.74619	7.337000	0.79256	2.272000	0.75746	0.462000	0.41574	GCT		0.562	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			64	376	1	0	1.02487e-32	1	1.21166e-32	64	376				
APOA2	336	broad.mit.edu	37	1	161192148	161192148	+	3'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161192148G>A	ENST00000367990.3	-	0	407				AL590714.1_ENST00000594609.1_Missense_Mutation_p.G28E|APOA2_ENST00000468465.1_3'UTR|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000470459.2_3'UTR|APOA2_ENST00000463812.1_3'UTR|APOA2_ENST00000464492.1_3'UTR	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II						acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGGCCAGTGGGTGTTCTAGA	0.512																																						ENST00000594609.1																			0											c.(82-84)gGg>gAg									98.0	93.0	95.0					1																	161192148		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0							g.chr1:161192148G>A		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.*47C>T	1.37:g.161192148G>A						APOA2_ENST00000367990.3_3'UTR|APOA2_ENST00000481413.1_5'UTR	p.G28E							2	83	+								B2R524	Missense_Mutation	SNP	ENST00000367990.3	37	c.83G>A	CCDS1226.1																																																																																				0.512	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		58	575	0	0	0	1	0	58	575				
AGPAT4	56895	broad.mit.edu	37	6	161653106	161653106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161653106C>T	ENST00000320285.4	-	2	352	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	47					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GTTGATCTTCCGGAAGAGCTG	0.448																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(139-141)cGg>cAg		1-acylglycerol-3-phosphate O-acyltransferase 4							117.0	104.0	108.0					6																	161653106		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161653106C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.140G>A	6.37:g.161653106C>T	ENSP00000314036:p.Arg47Gln					AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q	p.R47Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	2	352	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	47					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.140G>A	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025019	0.75390	.	.	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.7	5.7	0.88788	.	0.054761	0.64402	D	0.000002	T	0.64148	0.2572	M	0.80028	2.48	0.80722	D	1	D;P;D;P	0.89917	1.0;0.852;1.0;0.47	D;B;D;B	0.91635	0.999;0.054;0.997;0.063	T	0.66976	-0.5787	10	0.66056	D	0.02	-41.1725	19.8351	0.96655	0.0:1.0:0.0:0.0	.	47;47;47;47	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	Q	47	ENSP00000355878:R47Q;ENSP00000314036:R47Q;ENSP00000407007:R47Q;ENSP00000355875:R47Q;ENSP00000355872:R47Q	ENSP00000314036:R47Q	R	-	2	0	AGPAT4	161573096	1.000000	0.71417	0.845000	0.33349	0.420000	0.31355	7.512000	0.81728	2.693000	0.91896	0.650000	0.86243	CGG		0.448	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		45	207	0	0	0	1	0	45	207				
C10orf32-ASMT	100528007	broad.mit.edu	37	10	104620108	104620108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104620108G>A	ENST00000299353.6	+	2	176	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	C10orf32_ENST00000369883.3_Missense_Mutation_p.R54Q|C10orf32_ENST00000339834.5_Missense_Mutation_p.R54Q					C10orf32-ASMT readthrough (NMD candidate)																		CAGGCAGCTCGAAACATGGTA	0.383																																						ENST00000299353.6																			0											c.(160-162)cGa>cAa									130.0	131.0	131.0					10																	104620108		2203	4300	6503	SO:0001583	missense	0							g.chr10:104620108G>A			10q24.32	2013-09-25			ENSG00000270316	ENSG00000270316			49183	other	readthrough							Standard	NR_037644		Approved				OTTHUMG00000184175	ENST00000299353.6:c.161G>A	10.37:g.104620108G>A	ENSP00000299353:p.Arg54Gln					C10orf32_ENST00000369883.3_Missense_Mutation_p.R54Q|C10orf32_ENST00000339834.5_Missense_Mutation_p.R54Q	p.R54Q							2	176	+									Missense_Mutation	SNP	ENST00000299353.6	37	c.161G>A	CCDS7542.2	.	.	.	.	.	.	.	.	.	.	G	34	5.411624	0.96072	.	.	ENSG00000166275	ENST00000339834;ENST00000369883	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	U	0.000009	T	0.78207	0.4247	M	0.66939	2.045	0.51012	D	0.999904	D	0.71674	0.998	D	0.72982	0.979	T	0.77608	-0.2524	9	0.54805	T	0.06	-18.9638	18.1474	0.89662	0.0:0.0:1.0:0.0	.	53	Q96B45	CJ032_HUMAN	Q	54	.	ENSP00000299353:R54Q	R	+	2	0	C10orf32	104610098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.820000	0.75267	2.816000	0.96949	0.561000	0.74099	CGA		0.383	C10orf32-ASMT-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000468206.2			36	168	0	0	0	1	0	36	168				
FBLN2	2199	broad.mit.edu	37	3	13660486	13660486	+	Silent	SNP	G	G	A	rs545435806	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13660486G>A	ENST00000295760.7	+	7	2091	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000404922.3_Silent_p.P674P|FBLN2_ENST00000535798.1_Silent_p.P700P	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	674					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACACCATCCCGCTGCCACTGC	0.622													G|||	25	0.00499201	0.0	0.0	5008	,	,		17157	0.0		0.0	False		,,,				2504	0.0256					ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2020-2022)ccG>ccA		fibulin 2							25.0	30.0	28.0					3																	13660486		1957	4157	6114	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13660486G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2022G>A	3.37:g.13660486G>A						FBLN2_ENST00000535798.1_Silent_p.P700P|FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000295760.7_Silent_p.P674P	p.P674P	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		7	2141	+			674					B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.2022G>A	CCDS46762.1																																																																																				0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		15	75	0	0	0	1	0	15	75				
KIAA2018	205717	broad.mit.edu	37	3	113375352	113375352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113375352G>T	ENST00000478658.1	-	5	5194	c.5177C>A	c.(5176-5178)gCc>gAc	p.A1726D	KIAA2018_ENST00000316407.4_Missense_Mutation_p.A1726D|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1726						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATATCTGAGGCCACAGTATG	0.408																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5176-5178)gCc>gAc		KIAA2018							119.0	114.0	115.0					3																	113375352		1877	4118	5995	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375352G>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5177C>A	3.37:g.113375352G>T	ENSP00000420721:p.Ala1726Asp					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.A1726D	p.A1726D	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	5587	-			1726					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.5177C>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	9.415	1.081650	0.20309	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.6	4.73	0.59995	.	0.444083	0.24134	N	0.041223	T	0.09598	0.0236	N	0.19112	0.55	0.19300	N	0.999979	B	0.27559	0.181	B	0.24155	0.051	T	0.21518	-1.0243	10	0.36615	T	0.2	-0.136	5.2305	0.15420	0.0798:0.1796:0.6145:0.1261	.	1726	Q68DE3	K2018_HUMAN	D	1726	ENSP00000320794:A1726D;ENSP00000420721:A1726D	ENSP00000320794:A1726D	A	-	2	0	KIAA2018	114858042	0.919000	0.31177	0.917000	0.36280	0.950000	0.60333	3.053000	0.49901	1.368000	0.46115	0.655000	0.94253	GCC		0.408	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		119	523	1	0	2.5327e-61	1	3.18828e-61	119	523				
KDM1A	23028	broad.mit.edu	37	1	23409708	23409708	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23409708A>C	ENST00000356634.3	+	19	2559	c.2410A>C	c.(2410-2412)Atc>Ctc	p.I804L	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L|KDM1A_ENST00000400181.4_Missense_Mutation_p.I828L	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	804	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAACATACGATCCGTAACTA	0.483																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(2482-2484)Atc>Ctc		lysine (K)-specific demethylase 1A							92.0	82.0	85.0					1																	23409708		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23409708A>C	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2410A>C	1.37:g.23409708A>C	ENSP00000349049:p.Ile804Leu					KDM1A_ENST00000356634.3_Missense_Mutation_p.I804L|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L	p.I828L	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			21	2586	+			804			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.2482A>C	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731644	0.89390	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.65975	2.015	0.80722	D	1	P;P	0.48016	0.802;0.904	P;P	0.58721	0.643;0.844	D	0.94022	0.7293	10	0.42905	T	0.14	-13.296	15.0953	0.72229	1.0:0.0:0.0:0.0	.	828;804	O60341-2;O60341	.;KDM1A_HUMAN	L	804;828;828	ENSP00000349049:I804L;ENSP00000383042:I828L;ENSP00000439072:I828L	ENSP00000349049:I804L	I	+	1	0	KDM1A	23282295	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.252000	0.95491	2.156000	0.67533	0.533000	0.62120	ATC		0.483	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		84	330	0	0	0	1	0	84	330				
SAMD14	201191	broad.mit.edu	37	17	48193388	48193388	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48193388C>T	ENST00000330175.4	-	5	883	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	189										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GAACTTTCGGCGAGTCTTCTT	0.627																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(565-567)cGc>cAc		sterile alpha motif domain containing 14							48.0	45.0	46.0					17																	48193388		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48193388C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.566G>A	17.37:g.48193388C>T	ENSP00000329144:p.Arg189His					SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H|SAMD14_ENST00000503734.1_5'UTR	p.R189H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			5	883	-			189					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.566G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323128	0.60634	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.17	5.17	0.71159	.	0.100684	0.35407	N	0.003229	T	0.71937	0.3399	L	0.54323	1.7	0.35594	D	0.807347	D;D	0.89917	0.999;1.0	D;D	0.83275	0.912;0.996	T	0.79773	-0.1662	9	0.87932	D	0	-17.7595	15.5892	0.76512	0.0:1.0:0.0:0.0	.	189;189	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	189;201;189	.	ENSP00000285206:R201H	R	-	2	0	SAMD14	45548387	1.000000	0.71417	0.995000	0.50966	0.258000	0.26162	2.982000	0.49337	2.417000	0.82017	0.313000	0.20887	CGC		0.627	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		43	196	0	0	0	1	0	43	196				
ITIH2	3698	broad.mit.edu	37	10	7776892	7776892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7776892G>A	ENST00000358415.4	+	15	1961	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T	ITIH2_ENST00000379587.4_Missense_Mutation_p.A588T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	599					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGAAGCCTGGCTCCTACAGC	0.552																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1795-1797)Gct>Act		inter-alpha-trypsin inhibitor heavy chain 2							100.0	101.0	101.0					10																	7776892		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7776892G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1795G>A	10.37:g.7776892G>A	ENSP00000351190:p.Ala599Thr					ITIH2_ENST00000379587.4_Missense_Mutation_p.A588T	p.A599T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			15	1961	+			599					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1795G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123567	0.77436	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.35421	1.31;1.31	5.56	5.56	0.83823	.	0.994257	0.08171	N	0.987029	T	0.65739	0.2720	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58781	-0.7576	10	0.59425	D	0.04	-20.7694	19.541	0.95273	0.0:0.0:1.0:0.0	.	599	P19823	ITIH2_HUMAN	T	599;588	ENSP00000351190:A599T;ENSP00000368906:A588T	ENSP00000351190:A599T	A	+	1	0	ITIH2	7816898	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	9.411000	0.97342	2.609000	0.88269	0.543000	0.68304	GCT		0.552	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		33	671	0	0	0	1	0	33	671				
USH2A	7399	broad.mit.edu	37	1	216011418	216011418	+	Missense_Mutation	SNP	C	C	T	rs147267500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216011418C>T	ENST00000307340.3	-	47	9672	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	USH2A_ENST00000366943.2_Missense_Mutation_p.V3096M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3096	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGCTTTTCACGCAGGCATAT	0.373										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9286-9288)Gtg>Atg		Usher syndrome 2A (autosomal recessive, mild)		C	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	226.0	205.0	212.0		9286	5.0	1.0	1	dbSNP_134	212	0,8600		0,0,4300	yes	missense	USH2A	NM_206933.2	21	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	3096/5203	216011418	4,13002	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216011418C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9286G>A	1.37:g.216011418C>T	ENSP00000305941:p.Val3096Met	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V3096M	p.V3096M			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	47	9672	-			3096			Fibronectin type-III 17.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9286G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005754	0.54254	9.08E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.01	5.01	0.66863	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.368167	0.19296	N	0.117756	T	0.67590	0.2909	M	0.70595	2.14	0.41726	D	0.989538	D	0.71674	0.998	P	0.56088	0.791	T	0.71069	-0.4699	10	0.52906	T	0.07	.	17.9566	0.89070	0.0:1.0:0.0:0.0	.	3096	O75445	USH2A_HUMAN	M	3096	ENSP00000305941:V3096M;ENSP00000355910:V3096M	ENSP00000305941:V3096M	V	-	1	0	USH2A	214078041	0.900000	0.30661	0.995000	0.50966	0.284000	0.27059	1.227000	0.32576	2.331000	0.79229	0.655000	0.94253	GTG		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		84	526	0	0	0	1	0	84	526				
CYSLTR2	57105	broad.mit.edu	37	13	49281308	49281308	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281308T>C	ENST00000282018.3	+	1	358	c.355T>C	c.(355-357)Tat>Cat	p.Y119H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	119					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTCCTTGTATGTCAACAT	0.468																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(355-357)Tat>Cat		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						182.0	176.0	178.0					13																	49281308		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281308T>C	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.355T>C	13.37:g.49281308T>C	ENSP00000282018:p.Tyr119His						p.Y119H	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	358	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	119					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.355T>C	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877179	0.72294	.	.	ENSG00000152207	ENST00000282018	T	0.73363	-0.74	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	D	0.85801	0.5781	M	0.75085	2.285	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.86089	0.1549	10	0.49607	T	0.09	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	119	Q9NS75	CLTR2_HUMAN	H	119	ENSP00000282018:Y119H	ENSP00000282018:Y119H	Y	+	1	0	CYSLTR2	48179309	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.262000	0.72514	2.333000	0.79357	0.533000	0.62120	TAT		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			71	480	0	0	0	1	0	71	480				
PLCL1	5334	broad.mit.edu	37	2	198968628	198968628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198968628G>A	ENST00000428675.1	+	5	3471	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1025					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAAGCAACTGAGAGCTTTGC	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3073-3075)Gag>Aag		phospholipase C-like 1	Quinacrine(DB01103)						81.0	82.0	82.0					2																	198968628		2202	4300	6502	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198968628G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3073G>A	2.37:g.198968628G>A	ENSP00000402861:p.Glu1025Lys					PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	p.E1025K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			5	3471	+			1025					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.3073G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031692	0.93575	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.25912	1.77;1.87	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.53158	0.1779	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.987	T	0.52902	-0.8513	9	.	.	.	.	17.572	0.87937	0.0:0.0:1.0:0.0	.	1025;951	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	1025;927	ENSP00000402861:E1025K;ENSP00000414138:E927K	.	E	+	1	0	PLCL1	198676873	1.000000	0.71417	0.967000	0.41034	0.949000	0.60115	8.595000	0.90840	2.679000	0.91253	0.650000	0.86243	GAG		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		58	197	0	0	0	1	0	58	197				
FBXW5	54461	broad.mit.edu	37	9	139836053	139836053	+	Missense_Mutation	SNP	C	C	T	rs200545656		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836053C>T	ENST00000325285.3	-	7	1259	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	394					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGTCCAGCGCGTCGAAGAAG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		17290	0.0		0.001	False		,,,				2504	0.0					ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1180-1182)Gcg>Acg		F-box and WD repeat domain containing 5							84.0	68.0	73.0					9																	139836053		2197	4296	6493	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139836053C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1180G>A	9.37:g.139836053C>T	ENSP00000313034:p.Ala394Thr					FBXW5_ENST00000483559.1_5'UTR	p.A394T	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	7	1259	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	394					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.1180G>A	CCDS7014.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.45	1.352848	0.24512	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.64438	-0.1;1.64	4.09	0.713	0.18173	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.246961	0.42548	D	0.000693	T	0.40743	0.1129	L	0.29908	0.895	0.39497	D	0.968138	P;P	0.37122	0.583;0.455	B;B	0.27887	0.084;0.035	T	0.28839	-1.0031	10	0.18276	T	0.48	-13.1478	12.3652	0.55224	0.5479:0.4521:0.0:0.0	.	259;394	Q59ET5;Q969U6	.;FBXW5_HUMAN	T	394;229	ENSP00000313034:A394T;ENSP00000409102:A229T	ENSP00000313034:A394T	A	-	1	0	FBXW5	138955874	0.693000	0.27728	0.054000	0.19295	0.435000	0.31806	1.513000	0.35823	0.416000	0.25844	0.561000	0.74099	GCG		0.662	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		17	69	0	0	0	1	0	17	69				
CLSTN3	9746	broad.mit.edu	37	12	7288002	7288002	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7288002A>T	ENST00000266546.6	+	4	913	c.463A>T	c.(463-465)Aca>Tca	p.T155S	CLSTN3_ENST00000537408.1_Missense_Mutation_p.T167S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	155	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCGGCTGTGACAGAGGGGAA	0.567																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(499-501)Aca>Tca		calsyntenin 3							213.0	133.0	160.0					12																	7288002		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288002A>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.463A>T	12.37:g.7288002A>T	ENSP00000266546:p.Thr155Ser					CLSTN3_ENST00000266546.6_Missense_Mutation_p.T155S	p.T167S			Q9BQT9	CSTN3_HUMAN			3	1037	+			155			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.499A>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724125	0.48728	.	.	ENSG00000139182	ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T	0.59083	0.29;0.29;0.91;1.27;1.27;0.29	5.01	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.050981	0.85682	D	0.000000	T	0.46678	0.1405	L	0.36672	1.1	0.40695	D	0.982434	B;P	0.38250	0.033;0.624	B;B	0.39465	0.015;0.3	T	0.36915	-0.9728	9	.	.	.	-19.1582	10.4463	0.44497	0.9235:0.0:0.0765:0.0	.	167;155	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	S	155;118;118;118;138;167	ENSP00000266546:T155S;ENSP00000442612:T118S;ENSP00000443468:T118S;ENSP00000443490:T118S;ENSP00000442801:T138S;ENSP00000440679:T167S	.	T	+	1	0	CLSTN3	7179269	1.000000	0.71417	0.916000	0.36221	0.607000	0.37147	3.918000	0.56432	0.947000	0.37659	0.374000	0.22700	ACA		0.567	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		50	330	0	0	0	1	0	50	330				
SIGLEC1	6614	broad.mit.edu	37	20	3673586	3673586	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673586C>A	ENST00000344754.4	-	14	3700	c.3701G>T	c.(3700-3702)aGg>aTg	p.R1234M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1234M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1234	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCCTCATCCCTGGGCTGTGG	0.697																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3700-3702)aGg>aTg		sialic acid binding Ig-like lectin 1, sialoadhesin							28.0	31.0	30.0					20																	3673586		2202	4298	6500	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673586C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3701G>T	20.37:g.3673586C>A	ENSP00000341141:p.Arg1234Met					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1234M	p.R1234M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3700	-			1234			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3701G>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.05|12.05	1.821744|1.821744	0.32237|0.32237	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.12569	.|2.67;2.67	4.98|4.98	2.9|2.9	0.33743|0.33743	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.462417	.|0.18472	.|N	.|0.140194	T|T	0.10723|0.10723	0.0262|0.0262	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P;P	.|0.45396	.|0.581;0.857	.|B;B	.|0.43123	.|0.262;0.409	T|T	0.13629|0.13629	-1.0502|-1.0502	5|10	.|0.62326	.|D	.|0.03	.|.	5.1697|5.1697	0.15103|0.15103	0.219:0.6755:0.0:0.1054|0.219:0.6755:0.0:0.1054	.|.	.|1234;1234	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|M	47|1234	.|ENSP00000341141:R1234M;ENSP00000202578:R1234M	.|ENSP00000202578:R1234M	Q|R	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621586|3621586	0.000000|0.000000	0.05858|0.05858	0.485000|0.485000	0.27403|0.27403	0.827000|0.827000	0.46813|0.46813	-0.447000|-0.447000	0.06828|0.06828	1.322000|1.322000	0.45245|0.45245	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.697	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		69	248	1	0	1.52378e-38	1	1.83746e-38	69	248				
MAP7D3	79649	broad.mit.edu	37	X	135326862	135326862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135326862G>A	ENST00000316077.9	-	4	566	c.346C>T	c.(346-348)Cga>Tga	p.R116*	MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.R98*|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.R116*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	116					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTCTCTTTTCGCTCCTTCAGC	0.383																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(346-348)Cga>Tga		MAP7 domain containing 3							266.0	236.0	245.0					X																	135326862		1884	4094	5978	SO:0001587	stop_gained	79649					cytoplasm|spindle		g.chrX:135326862G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.346C>T	X.37:g.135326862G>A	ENSP00000318086:p.Arg116*					MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.R98*|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.R116*	p.R116*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			4	566	-	Acute lymphoblastic leukemia(192;0.000127)		116					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Nonsense_Mutation	SNP	ENST00000316077.9	37	c.346C>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	36	5.878637	0.97055	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-18.449	17.7615	0.88466	0.0:0.0:1.0:0.0	.	.	.	.	X	116;116;98;116	.	ENSP00000318086:R116X	R	-	1	2	MAP7D3	135154528	1.000000	0.71417	0.028000	0.17463	0.004000	0.04260	5.336000	0.65935	2.312000	0.78011	0.506000	0.49869	CGA		0.383	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			27	578	0	0	0	1	0	27	578				
SPTBN2	6712	broad.mit.edu	37	11	66481107	66481107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66481107G>A	ENST00000533211.1	-	8	1098	c.767C>T	c.(766-768)cCc>cTc	p.P256L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	256	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCACCTTCGGGATCCAGCAG	0.512																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(766-768)cCc>cTc		spectrin, beta, non-erythrocytic 2							147.0	144.0	145.0					11																	66481107		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66481107G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.767C>T	11.37:g.66481107G>A	ENSP00000432568:p.Pro256Leu					SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L	p.P256L			O15020	SPTN2_HUMAN			8	1098	-			256			Actin-binding.|CH 2.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.767C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040059	0.75732	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.64618	-0.11;-0.11;-0.11	4.86	4.86	0.63082	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86122	0.1569	10	0.87932	D	0	.	16.9451	0.86228	0.0:0.0:1.0:0.0	.	256	O15020	SPTN2_HUMAN	L	256	ENSP00000432568:P256L;ENSP00000311489:P256L;ENSP00000433593:P256L	ENSP00000311489:P256L	P	-	2	0	SPTBN2	66237683	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	9.595000	0.98260	2.521000	0.84997	0.557000	0.71058	CCC		0.512	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		157	621	0	0	0	1	0	157	621				
SCO1	6341	broad.mit.edu	37	17	10595270	10595270	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10595270T>C	ENST00000255390.5	-	4	634	c.574A>G	c.(574-576)Act>Gct	p.T192A	SCO1_ENST00000582053.1_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.T161A	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	192					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCTGGCAGAGTTGTAATGCTA	0.393																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						c.(574-576)Act>Gct		SCO1 cytochrome c oxidase assembly protein							113.0	108.0	110.0					17																	10595270		2203	4300	6503	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10595270T>C	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.574A>G	17.37:g.10595270T>C	ENSP00000255390:p.Thr192Ala					SCO1_ENST00000577427.1_Missense_Mutation_p.T161A	p.T192A	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN			4	634	-			192					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.574A>G	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	T	4.276	0.050417	0.08243	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.83914	-1.78	5.5	-1.17	0.09648	Thioredoxin-like fold (2);	0.482809	0.24419	N	0.038699	T	0.66396	0.2785	N	0.11255	0.115	0.32910	D	0.514421	B;B	0.22800	0.075;0.004	B;B	0.32393	0.145;0.031	T	0.56685	-0.7938	10	0.08179	T	0.78	-10.4468	15.0142	0.71570	0.7322:0.0:0.0:0.2677	.	161;192	A8MY34;O75880	.;SCO1_HUMAN	A	192;161	ENSP00000255390:T192A	ENSP00000255390:T192A	T	-	1	0	SCO1	10535995	0.977000	0.34250	0.463000	0.27130	0.777000	0.43975	1.403000	0.34612	-0.456000	0.07043	-0.438000	0.05819	ACT		0.393	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		51	250	0	0	0	1	0	51	250				
CTNNA2	1496	broad.mit.edu	37	2	80874927	80874927	+	Missense_Mutation	SNP	G	G	A	rs529691509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80874927G>A	ENST00000402739.4	+	18	2797	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	931					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G932A(1)|p.R883P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGTTCGACGAGGTTCTCAG	0.438																																						ENST00000466387.1																			2	Substitution - Missense(2)	p.G932A(1)|p.R883P(1)	skin(2)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2647-2649)cGa>cAa		catenin (cadherin-associated protein), alpha 2							130.0	129.0	129.0					2																	80874927		1848	4090	5938	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874927G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2792G>A	2.37:g.80874927G>A	ENSP00000384638:p.Arg931Gln					CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R931Q	p.R883Q			P26232	CTNA2_HUMAN			22	3372	+			931					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2648G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.439588	0.96168	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.51574	0.86;0.86;0.82;0.7;0.86;0.74;2.09	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.65637	0.2710	L	0.54323	1.7	0.58432	D	0.999994	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.68353	0.794;0.957;0.956;0.956	T	0.59799	-0.7386	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	515;931;838;883	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	883;883;917;931;883;838;562	ENSP00000418191:R883Q;ENSP00000419295:R883Q;ENSP00000355398:R917Q;ENSP00000384638:R931Q;ENSP00000444675:R883Q;ENSP00000441705:R838Q;ENSP00000341500:R562Q	.	R	+	2	0	CTNNA2	80728438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CGA		0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		143	782	0	0	0	1	0	143	782				
STEAP3	55240	broad.mit.edu	37	2	119988594	119988594	+	5'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119988594G>A	ENST00000354888.5	+	0	480				STEAP3_ENST00000393107.2_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000393110.2_Silent_p.S2S|STEAP3_ENST00000393108.2_Intron	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGGATGTCGCACCAGCCTG	0.627																																						ENST00000393110.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(4-6)tcG>tcA		STEAP family member 3, metalloreductase							69.0	84.0	79.0					2																	119988594		2140	4233	6373	SO:0001623	5_prime_UTR_variant	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:119988594G>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.-25G>A	2.37:g.119988594G>A						STEAP3_ENST00000393108.2_Intron|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000393107.2_Intron|STEAP3_ENST00000354888.5_5'UTR|STEAP3_ENST00000393106.2_Intron	p.S2S			Q658P3	STEA3_HUMAN			2	457	+			0					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Silent	SNP	ENST00000354888.5	37	c.6G>A	CCDS2125.1																																																																																				0.627	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		11	210	0	0	0	1	0	11	210				
KCNH7	90134	broad.mit.edu	37	2	163256740	163256740	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163256740G>T	ENST00000332142.5	-	10	2465	c.2366C>A	c.(2365-2367)tCc>tAc	p.S789Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	789					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATTTCAATGGAGCCTCTGGA	0.438																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2365-2367)tCc>tAc		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						111.0	112.0	112.0					2																	163256740		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256740G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2366C>A	2.37:g.163256740G>T	ENSP00000331727:p.Ser789Tyr						p.S789Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			10	2465	-			789					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2366C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635925	0.87760	.	.	ENSG00000184611	ENST00000332142	D	0.92965	-3.14	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.87617	2.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.96840	0.9617	10	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	789	Q9NS40	KCNH7_HUMAN	Y	789	ENSP00000331727:S789Y	ENSP00000331727:S789Y	S	-	2	0	KCNH7	162964986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.855000	0.99526	2.752000	0.94435	0.655000	0.94253	TCC		0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		88	485	1	0	7.28744e-38	1	8.7633e-38	88	485				
HEPACAM	220296	broad.mit.edu	37	11	124793679	124793679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124793679C>T	ENST00000298251.4	-	3	1060	c.655G>A	c.(655-657)Gtg>Atg	p.V219M		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGGTTCTCCACCATGCAGCTG	0.577																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(655-657)Gtg>Atg		hepatic and glial cell adhesion molecule							85.0	73.0	77.0					11																	124793679		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793679C>T	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.655G>A	11.37:g.124793679C>T	ENSP00000298251:p.Val219Met						p.V219M	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	1060	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	219			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.655G>A	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178303	0.94846	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.14266	2.52	5.56	5.56	0.83823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053931	0.64402	D	0.000001	T	0.47021	0.1423	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.977	T	0.54443	-0.8293	10	0.72032	D	0.01	-9.3497	19.5031	0.95104	0.0:1.0:0.0:0.0	.	219;219	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	M	219	ENSP00000298251:V219M	ENSP00000298251:V219M	V	-	1	0	HEPACAM	124298889	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.814000	0.86154	2.605000	0.88082	0.655000	0.94253	GTG		0.577	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		8	287	0	0	0	1	0	8	287				
ERICH6	131831	broad.mit.edu	37	3	150403768	150403768	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150403768A>G	ENST00000295910.6	-	5	703	c.651T>C	c.(649-651)atT>atC	p.I217I	FAM194A_ENST00000491361.1_Silent_p.I71I	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCATATAAAATATTTAGTT	0.328																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(649-651)atT>atC		family with sequence similarity 194, member A							106.0	116.0	113.0					3																	150403768		2200	4300	6500	SO:0001819	synonymous_variant	131831							g.chr3:150403768A>G																												ENST00000295910.6:c.651T>C	3.37:g.150403768A>G						FAM194A_ENST00000491361.1_Silent_p.I71I	p.I217I	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			5	703	-			217						Silent	SNP	ENST00000295910.6	37	c.651T>C	CCDS3151.2																																																																																				0.328	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			92	389	0	0	0	1	0	92	389				
FKBP5	2289	broad.mit.edu	37	6	35587999	35587999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35587999C>T	ENST00000539068.1	-	4	505	c.303G>A	c.(301-303)gaG>gaA	p.E101E	FKBP5_ENST00000542713.1_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000536438.1_Silent_p.E101E	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	101	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGGCATATCTCTCCTTTCT	0.433																																						ENST00000542713.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(301-303)gaG>gaA		FK506 binding protein 5							165.0	136.0	146.0					6																	35587999		2203	4300	6503	SO:0001819	synonymous_variant	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35587999C>T	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.303G>A	6.37:g.35587999C>T						FKBP5_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000536438.1_Silent_p.E101E|FKBP5_ENST00000539068.1_Silent_p.E101E	p.E101E	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN			4	460	-			101			PPIase FKBP-type 1.		F5H7R1|Q59EB8|Q5TGM6	Silent	SNP	ENST00000539068.1	37	c.303G>A	CCDS4808.1																																																																																				0.433	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			83	297	0	0	0	1	0	83	297				
SIX1	6495	broad.mit.edu	37	14	61113260	61113260	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61113260T>C	ENST00000247182.6	-	2	868	c.596A>G	c.(595-597)aAg>aGg	p.K199R	SIX1_ENST00000554986.1_Missense_Mutation_p.K26R	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	199					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTGGTTCTGCTTGTTGGAGGA	0.428																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(595-597)aAg>aGg		SIX homeobox 1							88.0	77.0	81.0					14																	61113260		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61113260T>C	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.596A>G	14.37:g.61113260T>C	ENSP00000247182:p.Lys199Arg					SIX1_ENST00000554986.1_Missense_Mutation_p.K26R	p.K199R	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	2	868	-			199					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.596A>G	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.010109	0.93346	.	.	ENSG00000126778	ENST00000247182;ENST00000555955;ENST00000553535	D;D;D	0.86956	-2.19;-2.18;-2.18	5.19	5.19	0.71726	.	0.045211	0.85682	D	0.000000	T	0.78641	0.4315	N	0.24115	0.695	0.58432	D	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.72915	-0.4147	10	0.16896	T	0.51	-23.9489	15.22	0.73303	0.0:0.0:0.0:1.0	.	199	Q15475	SIX1_HUMAN	R	199;15;15	ENSP00000247182:K199R;ENSP00000450952:K15R;ENSP00000450739:K15R	ENSP00000247182:K199R	K	-	2	0	SIX1	60183013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.815000	0.69215	2.177000	0.69029	0.533000	0.62120	AAG		0.428	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			13	338	0	0	0	1	0	13	338				
SLIT2	9353	broad.mit.edu	37	4	20597397	20597397	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20597397A>G	ENST00000504154.1	+	31	3512	c.3260A>G	c.(3259-3261)aAc>aGc	p.N1087S	SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1087	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.N1087T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGTGTAAAAACGGAGCCCAC	0.468																																						ENST00000504154.1																			1	Substitution - Missense(1)	p.N1087T(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3259-3261)aAc>aGc		slit homolog 2 (Drosophila)							187.0	173.0	178.0					4																	20597397		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597397A>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3260A>G	4.37:g.20597397A>G	ENSP00000422591:p.Asn1087Ser					SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S	p.N1087S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			31	3512	+			1087			EGF-like 5; calcium-binding (Potential).		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3260A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532906	0.64972	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.039534	0.85682	D	0.000000	D	0.96315	0.8798	M	0.85197	2.74	0.80722	D	1	P;P	0.40534	0.582;0.72	B;P	0.47941	0.17;0.562	D	0.96586	0.9434	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1079;1087	O94813-3;O94813	.;SLIT2_HUMAN	S	1079;1087;1100;1083;1083	ENSP00000427548:N1079S;ENSP00000422591:N1087S;ENSP00000273739:N1100S;ENSP00000422261:N1083S	ENSP00000273739:N1100S	N	+	2	0	SLIT2	20206495	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	7.048000	0.76606	2.371000	0.80710	0.533000	0.62120	AAC		0.468	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			10	663	0	0	0	1	0	10	663				
WNT5A	7474	broad.mit.edu	37	3	55504170	55504170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55504170C>T	ENST00000474267.1	-	6	1614	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	WNT5A_ENST00000497027.1_Missense_Mutation_p.V350I|WNT5A_ENST00000264634.4_Missense_Mutation_p.V365I|WNT5A_ENST00000493406.1_5'Flank			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	365					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V458L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGCACTTGACGTAGCAGCAC	0.592																																						ENST00000474267.1																			1	Substitution - Missense(1)	p.V458L(1)	urinary_tract(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1093-1095)Gtc>Atc		wingless-type MMTV integration site family, member 5A							88.0	90.0	89.0					3																	55504170		2203	4300	6503	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504170C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1093G>A	3.37:g.55504170C>T	ENSP00000417310:p.Val365Ile					WNT5A_ENST00000264634.4_Missense_Mutation_p.V365I|WNT5A_ENST00000497027.1_Missense_Mutation_p.V350I	p.V365I			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1614	-			365					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.1093G>A	CCDS46850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.294609|5.294609	0.95546|0.95546	.|.	.|.	ENSG00000114251|ENSG00000114251	ENST00000442038|ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	.|D;D;D	.|0.82255	.|-1.59;-1.59;-1.59	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93012|0.93012	0.7776|0.7776	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.93481|0.93481	0.6827|0.6827	6|10	0.87932|0.87932	D|D	0|0	.|.	20.0953|20.0953	0.97838|0.97838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|365	.|P41221	.|WNT5A_HUMAN	H|I	97|365;365;276;350	.|ENSP00000417310:V365I;ENSP00000264634:V365I;ENSP00000420104:V350I	ENSP00000395272:R97H|ENSP00000264634:V365I	R|V	-|-	2|1	0|0	WNT5A|WNT5A	55479210|55479210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.813000|7.813000	0.86123|0.86123	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.592	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		17	434	0	0	0	1	0	17	434				
CLN5	1203	broad.mit.edu	37	13	77570262	77570262	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77570262G>T	ENST00000377453.3	+	3	2004	c.712G>T	c.(712-714)Gga>Tga	p.G238*	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	189					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AACTATATCAGGTAAGTTGTG	0.338																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.e3+1		ceroid-lipofuscinosis, neuronal 5							88.0	87.0	88.0					13																	77570262		2203	4300	6503	SO:0001630	splice_region_variant	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570262G>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.712+1G>T	13.37:g.77570262G>T						CLN5_ENST00000485938.1_3'UTR	p.G238_splice	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	2004	+		Acute lymphoblastic leukemia(28;0.205)	189					B3KQK7	Splice_Site	SNP	ENST00000377453.3	37	c.712_splice	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	G	47	13.781606	0.99763	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6383	19.3321	0.94295	0.0:0.0:1.0:0.0	.	.	.	.	X	238;189;104	.	ENSP00000366673:G238X	G	+	1	0	CLN5	76468263	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.476000	0.97823	2.581000	0.87130	0.655000	0.94253	GGA		0.338	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493	Nonsense_Mutation	22	524	1	0	2.21704e-12	1	2.37967e-12	22	524				
SOGA3	387104	broad.mit.edu	37	6	127796553	127796553	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127796553C>T	ENST00000525778.1	-	6	3363	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	SOGA3_ENST00000481848.2_Missense_Mutation_p.R873H|SOGA3_ENST00000556132.1_Missense_Mutation_p.R873H|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.R873H|SOGA3_ENST00000368268.2_Missense_Mutation_p.R873H			Q5TF21	SOGA3_HUMAN	SOGA family member 3	873					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGCGTTGATGCGGTAGAGCAG	0.662																																						ENST00000556132.1																			0											c.(2617-2619)cGc>cAc		SOGA family member 3							61.0	70.0	67.0					6																	127796553		2167	4255	6422	SO:0001583	missense	387104					integral to membrane		g.chr6:127796553C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2618G>A	6.37:g.127796553C>T	ENSP00000434570:p.Arg873His					SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.R873H|SOGA3_ENST00000525778.1_Missense_Mutation_p.R873H|SOGA3_ENST00000368268.2_Missense_Mutation_p.R873H|SOGA3_ENST00000481848.2_Missense_Mutation_p.R873H	p.R873H	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3482	-			873						Missense_Mutation	SNP	ENST00000525778.1	37	c.2618G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490278	0.84962	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	L	0.51422	1.61	0.58432	D	0.999999	D	0.69078	0.997	P	0.58210	0.835	T	0.10870	-1.0611	10	0.56958	D	0.05	-13.2736	19.9031	0.96996	0.0:1.0:0.0:0.0	.	873	Q5TF21	CF174_HUMAN	H	873	ENSP00000451768:R873H;ENSP00000357251:R873H;ENSP00000434570:R873H;ENSP00000435559:R873H	ENSP00000435559:R873H	R	-	2	0	C6orf174	127838246	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.044000	0.71012	2.710000	0.92621	0.561000	0.74099	CGC		0.662	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		92	484	0	0	0	1	0	92	484				
ZNF142	7701	broad.mit.edu	37	2	219506771	219506771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219506771C>T	ENST00000449707.1	-	8	4889	c.4468G>A	c.(4468-4470)Gct>Act	p.A1490T	ZNF142_ENST00000411696.2_Missense_Mutation_p.A1490T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGATCAGCACAGGCATAG	0.532																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4468-4470)Gct>Act		zinc finger protein 142							95.0	98.0	97.0					2																	219506771		2158	4273	6431	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219506771C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4468G>A	2.37:g.219506771C>T	ENSP00000408643:p.Ala1490Thr					ZNF142_ENST00000449707.1_Missense_Mutation_p.A1490T	p.A1490T			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	5247	-		Renal(207;0.0474)	1490					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4468G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048747	0.75846	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14516	2.5;2.5	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.148988	0.64402	D	0.000010	T	0.18759	0.0450	N	0.04669	-0.19	0.47009	D	0.999286	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.41520	-0.9504	10	0.22109	T	0.4	-17.3075	19.8797	0.96891	0.0:1.0:0.0:0.0	.	1490;1327	P52746;A8MWU9	ZN142_HUMAN;.	T	1490	ENSP00000408643:A1490T;ENSP00000398798:A1490T	ENSP00000398798:A1490T	A	-	1	0	ZNF142	219215015	0.981000	0.34729	1.000000	0.80357	0.924000	0.55760	2.299000	0.43611	2.933000	0.99390	0.645000	0.84053	GCT		0.532	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		101	310	0	0	0	1	0	101	310				
TCERG1L	256536	broad.mit.edu	37	10	133058578	133058578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133058578C>T	ENST00000368642.4	-	4	885	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	267										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CAGGAAGTGGCGCGGCTGCAC	0.701																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(799-801)cGc>cAc		transcription elongation regulator 1-like							23.0	27.0	25.0					10																	133058578		2202	4300	6502	SO:0001583	missense	256536							g.chr10:133058578C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.800G>A	10.37:g.133058578C>T	ENSP00000357631:p.Arg267His						p.R267H	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	4	885	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	267					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.800G>A	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090020	0.55968	.	.	ENSG00000176769	ENST00000368642	T	0.22743	1.94	5.2	4.29	0.51040	.	0.157333	0.45126	D	0.000395	T	0.07548	0.0190	N	0.08118	0	0.23677	N	0.997137	P	0.43314	0.803	B	0.29353	0.101	T	0.25257	-1.0137	10	0.15066	T	0.55	-1.6377	10.7194	0.46032	0.0:0.9105:0.0:0.0895	.	267	Q5VWI1	TCRGL_HUMAN	H	267	ENSP00000357631:R267H	ENSP00000357631:R267H	R	-	2	0	TCERG1L	132948568	0.946000	0.32159	0.850000	0.33497	0.813000	0.45954	0.607000	0.24209	1.168000	0.42723	0.655000	0.94253	CGC		0.701	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		23	107	0	0	0	1	0	23	107				
TMC3	342125	broad.mit.edu	37	15	81625165	81625165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81625165G>A	ENST00000359440.5	-	22	3033	c.2898C>T	c.(2896-2898)ctC>ctT	p.L966L	TMC3_ENST00000558726.1_Silent_p.L967L|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	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						GAGCCCGACGGAGGTCTATCA	0.577																																						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.(2899-2901)ctC>ctT		transmembrane channel-like 3							16.0	17.0	16.0					15																	81625165		1851	4074	5925	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81625165G>A	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.2898C>T	15.37:g.81625165G>A						TMC3_ENST00000359440.5_Silent_p.L966L|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	p.L967L			Q7Z5M5	TMC3_HUMAN			22	3036	-			966						Silent	SNP	ENST00000359440.5	37	c.2901C>T	CCDS45324.1																																																																																				0.577	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		22	97	0	0	0	1	0	22	97				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		9	323	0	0	0	1	0	9	323				
RND1	27289	broad.mit.edu	37	12	49255902	49255902	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49255902C>A	ENST00000309739.5	-	3	339		c.e3-1			NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1						actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TAGGGAGATCCTGGTGTAGGC	0.522																																						ENST00000309739.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						c.e3-1		Rho family GTPase 1							136.0	116.0	122.0					12																	49255902		2203	4300	6503	SO:0001630	splice_region_variant	27289				actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding	g.chr12:49255902C>A	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.209-1G>T	12.37:g.49255902C>A								NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN			3	339	-								A8K9P7	Splice_Site	SNP	ENST00000309739.5	37		CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058756	0.93846	.	.	ENSG00000172602	ENST00000309739	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8627	0.88786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RND1	47542169	1.000000	0.71417	0.984000	0.44739	0.798000	0.45092	7.419000	0.80179	2.837000	0.97791	0.655000	0.94253	.		0.522	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470	Intron	32	130	1	0	2.80507e-11	1	2.99019e-11	32	130				
GPR62	118442	broad.mit.edu	37	3	51990245	51990245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990245G>A	ENST00000322241.4	+	1	916	c.577G>A	c.(577-579)Ggc>Agc	p.G193S		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGGCGCCTACGGCGGCATCTT	0.746																																						ENST00000322241.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(577-579)Ggc>Agc		G protein-coupled receptor 62							5.0	6.0	6.0					3																	51990245		1273	2760	4033	SO:0001583	missense	118442					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:51990245G>A	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.577G>A	3.37:g.51990245G>A	ENSP00000319250:p.Gly193Ser						p.G193S	NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	916	+			193					F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	c.577G>A	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272912	0.23221	.	.	ENSG00000180929	ENST00000322241	T	0.71817	-0.6	4.21	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.779683	0.10556	N	0.660823	T	0.50922	0.1644	N	0.17631	0.505	0.27682	N	0.946402	B	0.25206	0.12	B	0.21546	0.035	T	0.33727	-0.9857	10	0.20519	T	0.43	-14.668	7.3158	0.26499	0.2858:0.0:0.7142:0.0	.	193	Q9BZJ7	GPR62_HUMAN	S	193	ENSP00000319250:G193S	ENSP00000319250:G193S	G	+	1	0	GPR62	51965285	0.282000	0.24268	0.952000	0.39060	0.802000	0.45316	0.144000	0.16135	-0.033000	0.13736	0.305000	0.20034	GGC		0.746	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			16	64	0	0	0	1	0	16	64				
EXTL3	2137	broad.mit.edu	37	8	28574117	28574117	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574117A>G	ENST00000220562.4	+	3	1443	c.541A>G	c.(541-543)Aac>Gac	p.N181D	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	181					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCGGCTACACAACTGCTTTGA	0.597																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(541-543)Aac>Gac		exostosin-like glycosyltransferase 3							82.0	84.0	83.0					8																	28574117		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574117A>G	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.541A>G	8.37:g.28574117A>G	ENSP00000220562:p.Asn181Asp					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.N181D	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1443	+		Ovarian(32;0.069)	181					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.541A>G	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484444	0.26598	.	.	ENSG00000012232	ENST00000220562	D	0.95238	-3.65	5.02	3.87	0.44632	.	0.157871	0.56097	D	0.000027	D	0.89663	0.6780	L	0.39898	1.24	0.38076	D	0.936535	B	0.14012	0.009	B	0.12156	0.007	D	0.85933	0.1453	9	.	.	.	-21.2576	10.1276	0.42658	0.9215:0.0:0.0785:0.0	.	181	O43909	EXTL3_HUMAN	D	181	ENSP00000220562:N181D	.	N	+	1	0	EXTL3	28630036	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.526000	0.53509	1.903000	0.55091	0.397000	0.26171	AAC		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		51	433	0	0	0	1	0	51	433				
PHLDB2	90102	broad.mit.edu	37	3	111604339	111604339	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111604339G>T	ENST00000431670.2	+	2	1746				PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000478922.1_Missense_Mutation_p.R472M|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000393925.3_Intron	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATGGACTCCAGGATATGTGGG	0.438																																						ENST00000478922.1																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1414-1416)aGg>aTg		pleckstrin homology-like domain, family B, member 2																																				SO:0001627	intron_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111604339G>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1335+80G>T	3.37:g.111604339G>T						PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000393925.3_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000412622.1_Intron	p.R472M			Q86SQ0	PHLB2_HUMAN			2	1558	+			0					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1415G>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993214	0.19043	.	.	ENSG00000144824	ENST00000478922	.	.	.	5.51	3.34	0.38264	.	.	.	.	.	T	0.40886	0.1135	.	.	.	0.21579	N	0.999639	D	0.54964	0.969	P	0.53593	0.73	T	0.16305	-1.0407	6	.	.	.	.	5.9314	0.19140	0.2577:0.0:0.7423:0.0	.	472	E9PDY7	.	M	472	.	.	R	+	2	0	PHLDB2	113087029	0.014000	0.17966	0.165000	0.22776	0.082000	0.17680	0.526000	0.22971	1.464000	0.47987	0.655000	0.94253	AGG		0.438	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		32	121	1	0	1.55811e-20	1	1.74671e-20	32	121				
CDK5RAP1	51654	broad.mit.edu	37	20	31973465	31973465	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31973465A>G	ENST00000357886.4	-	7	1020	c.867T>C	c.(865-867)ctT>ctC	p.L289L	CDK5RAP1_ENST00000473997.1_Silent_p.L199L|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000346416.2_Silent_p.L289L|CDK5RAP1_ENST00000339269.5_Silent_p.L289L			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	289					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCTGCTCAGAAAGCTTCTTCA	0.498																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(865-867)ctT>ctC		CDK5 regulatory subunit associated protein 1							109.0	103.0	105.0					20																	31973465		2203	4300	6503	SO:0001819	synonymous_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31973465A>G	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.867T>C	20.37:g.31973465A>G						CDK5RAP1_ENST00000346416.2_Silent_p.L289L|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.L289L|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000452723.3_Silent_p.L199L	p.L289L			Q96SZ6	CK5P1_HUMAN			7	1020	-			289					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37	c.867T>C																																																																																					0.498	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		42	390	0	0	0	1	0	42	390				
ARIH1	25820	broad.mit.edu	37	15	72853880	72853880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72853880G>T	ENST00000379887.4	+	6	1108	c.794G>T	c.(793-795)aGc>aTc	p.S265I		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	265					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						ATAACAAATAGCTTTGTAGAG	0.259																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(793-795)aGc>aTc		ariadne RBR E3 ubiquitin protein ligase 1							38.0	41.0	40.0					15																	72853880		2195	4290	6485	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72853880G>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.794G>T	15.37:g.72853880G>T	ENSP00000369217:p.Ser265Ile						p.S265I	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			6	1108	+			265					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.794G>T	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937987	0.92526	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.81247	-1.47	5.52	5.52	0.82312	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.92459	0.5976	10	0.87932	D	0	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	265	Q9Y4X5	ARI1_HUMAN	I	265;235	ENSP00000369217:S265I	ENSP00000299305:S235I	S	+	2	0	ARIH1	70640934	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.419000	0.97397	2.765000	0.95021	0.650000	0.86243	AGC		0.259	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		24	125	1	0	1.55469e-16	1	1.70887e-16	24	125				
DIP2C	22982	broad.mit.edu	37	10	410353	410353	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410353G>A	ENST00000280886.6	-	20	2525	c.2438C>T	c.(2437-2439)gCg>gTg	p.A813V	DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	813						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TACGGCCAGCGCAGTGGCCAC	0.577																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2437-2439)gCg>gTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							65.0	66.0	66.0					10																	410353		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:410353G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2438C>T	10.37:g.410353G>A	ENSP00000280886:p.Ala813Val					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V	p.A813V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	20	2525	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	813					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.2438C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117828	0.37339	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.39056	2.98;1.1	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.39245	1.2	0.80722	D	1	D;B	0.67145	0.996;0.089	D;B	0.66196	0.942;0.037	T	0.36359	-0.9751	10	0.02654	T	1	-30.4331	19.1516	0.93491	0.0:0.0:1.0:0.0	.	134;813	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	V	813;134	ENSP00000280886:A813V;ENSP00000443826:A134V	ENSP00000280886:A813V	A	-	2	0	DIP2C	400353	1.000000	0.71417	0.671000	0.29857	0.184000	0.23303	9.869000	0.99810	2.523000	0.85059	0.455000	0.32223	GCG		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		78	371	0	0	0	1	0	78	371				
ST6GALNAC2	10610	broad.mit.edu	37	17	74574856	74574856	+	Silent	SNP	C	C	T	rs372232557		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74574856C>T	ENST00000225276.5	-	2	487	c.168G>A	c.(166-168)tcG>tcA	p.S56S	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	56					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCCAAGAATTCGATGCCTTGG	0.498																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(166-168)tcG>tcA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2		C		0,4406		0,0,2203	168.0	141.0	150.0		168	-3.3	0.0	17		150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST6GALNAC2	NM_006456.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		56/375	74574856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74574856C>T	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.168G>A	17.37:g.74574856C>T						ST6GALNAC2_ENST00000586520.1_5'UTR	p.S56S	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			2	487	-			56					Q12971	Silent	SNP	ENST00000225276.5	37	c.168G>A	CCDS11747.1																																																																																				0.498	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		50	250	0	0	0	1	0	50	250				
OR5A2	219981	broad.mit.edu	37	11	59189727	59189727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59189727C>T	ENST00000302040.4	-	1	722	c.700G>A	c.(700-702)Ggt>Agt	p.G234S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTTGTCCTACCTGTAGCTGAG	0.478																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(700-702)Ggt>Agt		olfactory receptor, family 5, subfamily A, member 2							108.0	98.0	101.0					11																	59189727		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189727C>T	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.700G>A	11.37:g.59189727C>T	ENSP00000303834:p.Gly234Ser						p.G234S	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	722	-			234					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.700G>A	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433395	0.96150	.	.	ENSG00000172324	ENST00000302040	T	0.00293	8.26	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35772	U	0.002992	T	0.00784	0.0026	M	0.80332	2.49	0.34768	D	0.733422	D	0.89917	1.0	D	0.97110	1.0	T	0.66555	-0.5894	10	0.72032	D	0.01	.	17.3816	0.87406	0.0:1.0:0.0:0.0	.	234	Q8NGI9	OR5A2_HUMAN	S	234	ENSP00000303834:G234S	ENSP00000303834:G234S	G	-	1	0	OR5A2	58946303	0.536000	0.26378	0.576000	0.28549	0.753000	0.42808	2.016000	0.40971	2.787000	0.95880	0.650000	0.86243	GGT		0.478	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		39	185	0	0	0	1	0	39	185				
RFX6	222546	broad.mit.edu	37	6	117203536	117203536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203536C>T	ENST00000332958.2	+	4	527	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	171					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTAGACAATTCGCCAGAAGTT	0.403																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(511-513)Cgc>Tgc		regulatory factor X, 6							97.0	87.0	90.0					6																	117203536		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117203536C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.511C>T	6.37:g.117203536C>T	ENSP00000332208:p.Arg171Cys						p.R171C	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			4	527	+			171					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.511C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050990	0.93740	.	.	ENSG00000185002	ENST00000332958	D	0.86694	-2.16	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94452	0.7668	10	0.87932	D	0	-16.0365	19.7727	0.96373	0.0:1.0:0.0:0.0	.	171	Q8HWS3	RFX6_HUMAN	C	171	ENSP00000332208:R171C	ENSP00000332208:R171C	R	+	1	0	RFX6	117310229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.760000	0.68793	2.689000	0.91719	0.650000	0.86243	CGC		0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		38	187	0	0	0	1	0	38	187				
EPHX1	2052	broad.mit.edu	37	1	226027621	226027621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226027621C>A	ENST00000366837.4	+	6	1010	c.814C>A	c.(814-816)Ctt>Att	p.L272I	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	272					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CGGGAGGTTTCTTGGCCTCAC	0.547																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(814-816)Ctt>Att		epoxide hydrolase 1, microsomal (xenobiotic)							191.0	171.0	178.0					1																	226027621		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027621C>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.814C>A	1.37:g.226027621C>A	ENSP00000355802:p.Leu272Ile					EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I	p.L272I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			6	1010	+	Breast(184;0.197)		272					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.814C>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435926	0.25813	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.62232	0.04;0.04	5.57	-6.85	0.01681	Alpha/beta hydrolase fold-1 (1);	0.643450	0.16488	N	0.212251	T	0.43919	0.1269	L	0.46741	1.465	0.09310	N	0.99999	B	0.23540	0.087	B	0.27076	0.076	T	0.43734	-0.9373	10	0.12103	T	0.63	-5.3139	9.0791	0.36540	0.0:0.4664:0.1095:0.424	.	272	P07099	HYEP_HUMAN	I	272	ENSP00000272167:L272I;ENSP00000355802:L272I	ENSP00000272167:L272I	L	+	1	0	EPHX1	224094244	0.481000	0.25941	0.000000	0.03702	0.002000	0.02628	0.763000	0.26517	-1.000000	0.03438	-0.423000	0.05987	CTT		0.547	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		69	665	1	0	7.65386e-43	1	9.33002e-43	69	665				
CASP1	834	broad.mit.edu	37	11	104900402	104900402	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104900402G>T	ENST00000533400.1	-	6	887	c.852C>A	c.(850-852)gcC>gcA	p.A284A	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000393136.4_Silent_p.A263A|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000528974.1_Silent_p.A245A	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	284					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CACCACGGCAGGCCTGGATGA	0.418																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(850-852)gcC>gcA		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						89.0	75.0	80.0					11																	104900402		2202	4299	6501	SO:0001819	synonymous_variant	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104900402G>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.852C>A	11.37:g.104900402G>T						CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000528974.1_Silent_p.A245A|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000393136.4_Silent_p.A263A	p.A284A	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	887	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	284					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Silent	SNP	ENST00000533400.1	37	c.852C>A	CCDS8330.1																																																																																				0.418	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		22	225	1	0	1.22574e-08	1	1.28258e-08	22	225				
ANKRD52	283373	broad.mit.edu	37	12	56641840	56641840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56641840G>A	ENST00000267116.7	-	18	2066	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	649										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTGCGCTTGCGCTCCTTGATG	0.642																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1945-1947)Cgc>Tgc		ankyrin repeat domain 52							28.0	33.0	31.0					12																	56641840		2063	4196	6259	SO:0001583	missense	283373						protein binding	g.chr12:56641840G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1945C>T	12.37:g.56641840G>A	ENSP00000267116:p.Arg649Cys						p.R649C	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			18	2066	-			649					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1945C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147421	0.57151	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.16196	2.36	4.42	4.42	0.53409	Ankyrin repeat-containing domain (2);	0.175676	0.47455	D	0.000236	T	0.11793	0.0287	N	0.17474	0.49	0.51012	D	0.999909	D	0.54397	0.966	B	0.42882	0.401	T	0.03148	-1.1067	10	0.52906	T	0.07	.	12.0765	0.53647	0.0:0.0:0.8272:0.1728	.	649	Q8NB46	ANR52_HUMAN	C	649	ENSP00000267116:R649C	ENSP00000267116:R649C	R	-	1	0	ANKRD52	54928107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.148000	0.42235	2.474000	0.83562	0.467000	0.42956	CGC		0.642	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		35	140	0	0	0	1	0	35	140				
AEBP1	165	broad.mit.edu	37	7	44153526	44153526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153526C>T	ENST00000223357.3	+	21	3448	c.3143C>T	c.(3142-3144)aCt>aTt	p.T1048I	AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1048	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGCCCCCACACTGTGCCTCCC	0.701																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3142-3144)aCt>aTt		AE binding protein 1							45.0	45.0	45.0					7																	44153526		2202	4298	6500	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153526C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3143C>T	7.37:g.44153526C>T	ENSP00000223357:p.Thr1048Ile					AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	p.T1048I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3448	+			1048			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3143C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393069	0.25118	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95690	-3.78;-3.13	4.0	0.568	0.17333	.	1.510280	0.03661	N	0.242499	D	0.92047	0.7480	N	0.24115	0.695	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.34931	0.192;0.094	D	0.84349	0.0531	10	0.87932	D	0	4.82	8.4594	0.32919	0.2768:0.581:0.1422:0.0	.	623;1048	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	I	1048;623	ENSP00000223357:T1048I;ENSP00000398878:T623I	ENSP00000223357:T1048I	T	+	2	0	AEBP1	44120051	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.877000	0.28106	0.113000	0.18004	0.557000	0.71058	ACT		0.701	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		31	242	0	0	0	1	0	31	242				
SMAD7	4092	broad.mit.edu	37	18	46448237	46448237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448237G>A	ENST00000262158.2	-	4	1072	c.786C>T	c.(784-786)tgC>tgT	p.C262C	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.C261C|SMAD7_ENST00000591805.1_Silent_p.C47C	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	262	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.C262C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATGCCACCACGCACCAGTGTG	0.537																																						ENST00000262158.2																			1	Substitution - coding silent(1)	p.C262C(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(784-786)tgC>tgT		SMAD family member 7							50.0	55.0	54.0					18																	46448237		2199	4298	6497	SO:0001819	synonymous_variant	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46448237G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.786C>T	18.37:g.46448237G>A						SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Silent_p.C47C|SMAD7_ENST00000589634.1_Silent_p.C261C	p.C262C	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1072	-	Colorectal(1;0.0518)		262			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	37	c.786C>T	CCDS11936.1																																																																																				0.537	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		43	240	0	0	0	1	0	43	240				
RIMBP2	23504	broad.mit.edu	37	12	130921635	130921635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130921635C>A	ENST00000261655.4	-	10	1970	c.1807G>T	c.(1807-1809)Gca>Tca	p.A603S	RIMBP2_ENST00000535703.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A511S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	603	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCAGAACTTGCTAATGGCTTT	0.647																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1807-1809)Gca>Tca		RIMS binding protein 2							63.0	50.0	55.0					12																	130921635		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921635C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1807G>T	12.37:g.130921635C>A	ENSP00000261655:p.Ala603Ser					RIMBP2_ENST00000535703.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A511S	p.A603S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1970	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	603			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1807G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564943	0.13498	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.29655	1.56;1.56;1.56	4.63	2.6	0.31112	.	0.734998	0.13089	N	0.414720	T	0.29716	0.0742	M	0.76838	2.35	0.31546	N	0.659379	P;B;B	0.41393	0.748;0.383;0.008	B;B;B	0.38842	0.283;0.178;0.005	T	0.29822	-0.9999	10	0.22109	T	0.4	-4.4196	4.581	0.12259	0.1513:0.6093:0.1467:0.0928	.	511;511;603	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	S	603;511;511;511	ENSP00000261655:A603S;ENSP00000440347:A511S;ENSP00000439159:A511S	ENSP00000261655:A603S	A	-	1	0	RIMBP2	129487588	0.997000	0.39634	0.435000	0.26784	0.059000	0.15707	0.524000	0.22940	0.298000	0.22638	0.561000	0.74099	GCA		0.647	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		5	116	1	0	0.184627	1	0.18487	5	116				
VPRBP	9730	broad.mit.edu	37	3	51457286	51457286	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457286C>T	ENST00000335891.5	-	7	1800	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1046					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTTATTGGCGCTTGCCGCC	0.507																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1789-1791)gcG>gcA		Vpr (HIV-1) binding protein							147.0	142.0	144.0					3																	51457286		1932	4137	6069	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457286C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1791G>A	3.37:g.51457286C>T							p.A597A			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1800	-			1046					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.1791G>A																																																																																					0.507	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		118	421	0	0	0	1	0	118	421				
EP400	57634	broad.mit.edu	37	12	132528242	132528242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132528242C>T	ENST00000333577.4	+	35	6636	c.6527C>T	c.(6526-6528)tCt>tTt	p.S2176F	EP400_ENST00000332482.4_Missense_Mutation_p.S2103F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F|EP400_ENST00000389562.2_Missense_Mutation_p.S2139F|EP400_ENST00000330386.6_Missense_Mutation_p.S2059F			Q96L91	EP400_HUMAN	E1A binding protein p400	2176					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCCATACTTCTATTGAGCAA	0.289																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(6526-6528)tCt>tTt		E1A binding protein p400							46.0	46.0	46.0					12																	132528242		2202	4296	6498	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132528242C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6527C>T	12.37:g.132528242C>T	ENSP00000333602:p.Ser2176Phe					EP400_ENST00000389562.2_Missense_Mutation_p.S2139F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F|EP400_ENST00000330386.6_Missense_Mutation_p.S2059F|EP400_ENST00000332482.4_Missense_Mutation_p.S2103F	p.S2176F			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	35	6636	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2176					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.6527C>T		.	.	.	.	.	.	.	.	.	.	C	4.909	0.168950	0.09339	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90732	-2.72;-2.71;-2.72;-2.72;-2.72	5.74	5.74	0.90152	.	0.421443	0.28803	N	0.014087	D	0.92424	0.7595	M	0.73962	2.25	0.09310	N	1	P;P;P	0.50617	0.937;0.937;0.937	P;P;P	0.49999	0.628;0.628;0.628	D	0.87876	0.2674	10	0.54805	T	0.06	.	14.739	0.69440	0.1446:0.8554:0.0:0.0	.	2140;2059;2139	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	F	2176;2140;2139;2103;2059;2140	ENSP00000333602:S2176F;ENSP00000374212:S2140F;ENSP00000374213:S2139F;ENSP00000331737:S2103F;ENSP00000330620:S2059F	ENSP00000330620:S2059F	S	+	2	0	EP400	131094195	0.969000	0.33509	0.024000	0.17045	0.219000	0.24729	4.482000	0.60257	2.712000	0.92718	0.563000	0.77884	TCT		0.289	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		23	162	0	0	0	1	0	23	162				
SH3PXD2A	9644	broad.mit.edu	37	10	105363480	105363480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105363480C>T	ENST00000369774.4	-	15	1771	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	499	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGTATGATGCGGGGGCCCAG	0.622																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1495-1497)Gca>Aca		SH3 and PX domains 2A							55.0	52.0	53.0					10																	105363480		2203	4295	6498	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363480C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1495G>A	10.37:g.105363480C>T	ENSP00000358789:p.Ala499Thr					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T|SH3PXD2A_ENST00000427662.2_Intron	p.A499T			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	1771	-		Colorectal(252;0.0815)|Breast(234;0.131)	499			SH3 3.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1495G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.493212|3.493212	0.64186|0.64186	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Src homology-3 domain (4);|.	0.205803|.	0.51477|.	D|.	0.000089|.	T|T	0.71995|0.71995	0.3406|0.3406	M|M	0.67397|0.67397	2.05|2.05	0.39466|0.39466	D|D	0.967659|0.967659	P;D;D;D|.	0.65815|.	0.941;0.995;0.995;0.994|.	P;D;D;P|.	0.65573|.	0.577;0.936;0.913;0.861|.	T|T	0.72374|0.72374	-0.4313|-0.4313	10|5	0.34782|.	T|.	0.22|.	-19.4094|-19.4094	14.3946|14.3946	0.67003|0.67003	0.1477:0.8523:0.0:0.0|0.1477:0.8523:0.0:0.0	.|.	499;348;344;471|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	499;471;306;414;366;334|425	ENSP00000358789:A499T;ENSP00000348215:A471T;ENSP00000443663:A366T;ENSP00000441514:A334T|.	ENSP00000318135:A306T|.	A|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105353470|105353470	0.994000|0.994000	0.37717|0.37717	0.175000|0.175000	0.22980|0.22980	0.919000|0.919000	0.55068|0.55068	3.182000|3.182000	0.50910|0.50910	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		33	300	0	0	0	1	0	33	300				
BCS1L	617	broad.mit.edu	37	2	219526526	219526526	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219526526T>C	ENST00000431802.1	+	4	1204	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	169					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGTGATGTACACAGCTGT	0.527																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(505-507)Tac>Cac		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							96.0	86.0	89.0					2																	219526526		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219526526T>C	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.505T>C	2.37:g.219526526T>C	ENSP00000413908:p.Tyr169His					BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H	p.Y169H			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1204	+		Renal(207;0.0474)	169					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.505T>C	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189675	0.57909	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.33	2.96	0.34315	BCS1, N-terminal (1);	0.115428	0.64402	N	0.000009	D	0.97986	0.9337	M	0.86651	2.83	0.80722	D	1	B	0.26635	0.155	B	0.39935	0.314	D	0.96434	0.9321	10	0.51188	T	0.08	-19.5542	9.5157	0.39104	0.0:0.1425:0.0:0.8575	.	169	Q9Y276	BCS1_HUMAN	H	169;169;49;169;169;169;169;169;169;169	ENSP00000398957:Y169H;ENSP00000395440:Y169H;ENSP00000412729:Y49H;ENSP00000352219:Y169H;ENSP00000375957:Y169H;ENSP00000375958:Y169H;ENSP00000375959:Y169H;ENSP00000406494:Y169H;ENSP00000404999:Y169H;ENSP00000413908:Y169H	ENSP00000352219:Y169H	Y	+	1	0	BCS1L	219234770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.931000	0.63469	0.478000	0.27488	0.528000	0.53228	TAC		0.527	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		38	170	0	0	0	1	0	38	170				
MN1	4330	broad.mit.edu	37	22	28193973	28193973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193973C>T	ENST00000302326.4	-	1	3513	c.2559G>A	c.(2557-2559)ccG>ccA	p.P853P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCCCTCTGGCGGGTTCTTCT	0.652			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2557-2559)ccG>ccA		meningioma (disrupted in balanced translocation) 1							72.0	79.0	77.0					22																	28193973		1886	4093	5979	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193973C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2559G>A	22.37:g.28193973C>T							p.P853P	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3513	-			853					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2559G>A	CCDS42998.1																																																																																				0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		163	664	0	0	0	1	0	163	664				
MEF2D	4209	broad.mit.edu	37	1	156437841	156437841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156437841C>T	ENST00000348159.4	-	11	1978	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T|MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T|MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000464356.2_Missense_Mutation_p.A492T|MEF2D_ENST00000353795.3_Missense_Mutation_p.A454T	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	500					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTCTGGGGCTGGGCGCAGC	0.647																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(1498-1500)Gcc>Acc		myocyte enhancer factor 2D							55.0	55.0	55.0					1																	156437841		2203	4300	6503	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156437841C>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1498G>A	1.37:g.156437841C>T	ENSP00000271555:p.Ala500Thr					MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T|MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000353795.3_Missense_Mutation_p.A454T|MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T	p.A500T	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			11	1978	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		500					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.1498G>A	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395044	0.42512	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.48;0.1;0.1	4.01	4.01	0.46588	.	0.241597	0.35555	N	0.003133	T	0.17365	0.0417	N	0.14661	0.345	0.33201	D	0.552116	B;P;B	0.39282	0.011;0.666;0.041	B;B;B	0.33339	0.005;0.162;0.011	T	0.11275	-1.0594	10	0.46703	T	0.11	-18.3887	4.937	0.13946	0.2118:0.6797:0.0:0.1085	.	505;500;493	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	T	500;499;493;454;493;492	ENSP00000271555:A500T;ENSP00000343159:A499T;ENSP00000357223:A493T;ENSP00000344705:A454T;ENSP00000353803:A493T;ENSP00000388505:A492T	ENSP00000343159:A499T	A	-	1	0	MEF2D	154704465	0.985000	0.35326	1.000000	0.80357	0.956000	0.61745	2.693000	0.47027	2.084000	0.62774	0.313000	0.20887	GCC		0.647	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		16	509	0	0	0	1	0	16	509				
PTPRN	5798	broad.mit.edu	37	2	220162753	220162753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162753G>A	ENST00000295718.2	-	13	1981	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	PTPRN_ENST00000409251.3_Silent_p.L552L|PTPRN_ENST00000423636.2_Silent_p.L491L|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	581					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGGCCACCAGAGTGAGCAGC	0.642																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1741-1743)Ctg>Ttg		protein tyrosine phosphatase, receptor type, N							64.0	62.0	62.0					2																	220162753		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162753G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1741C>T	2.37:g.220162753G>A						PTPRN_ENST00000423636.2_Silent_p.L491L|PTPRN_ENST00000409251.3_Silent_p.L552L	p.L581L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	13	1981	-		Renal(207;0.0474)	581					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.1741C>T	CCDS2440.1																																																																																				0.642	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			93	327	0	0	0	1	0	93	327				
TP73-AS1	57212	broad.mit.edu	37	1	3662564	3662564	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3662564G>A	ENST00000452079.1	-	0	1322				TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000608600.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											CAGACAAGTCGCTGGTGGTGG	0.597																																						ENST00000452079.1																			0																				105.0	119.0	114.0					1																	3662564		2179	4278	6457			0							g.chr1:3662564G>A			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662564G>A						TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA		NR_033711.1						0	1322	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.597	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		56	521	0	0	0	1	0	56	521				
CHD9	80205	broad.mit.edu	37	16	53288395	53288395	+	Missense_Mutation	SNP	G	G	A	rs375430251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53288395G>A	ENST00000398510.3	+	17	3994	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	CHD9_ENST00000566029.1_Missense_Mutation_p.V1303I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I|CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1303	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGCAGTTAAAGTCTACAGACT	0.388																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(3907-3909)Gtc>Atc		chromodomain helicase DNA binding protein 9		G	ILE/VAL	1,3715		0,1,1857	179.0	172.0	174.0		3907	5.5	1.0	16		174	0,8206		0,0,4103	no	missense	CHD9	NM_025134.4	29	0,1,5960	AA,AG,GG		0.0,0.0269,0.0084	possibly-damaging	1303/2882	53288395	1,11921	1858	4103	5961	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53288395G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3907G>A	16.37:g.53288395G>A	ENSP00000381522:p.Val1303Ile					CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I|CHD9_ENST00000398510.3_Missense_Mutation_p.V1303I	p.V1303I			Q3L8U1	CHD9_HUMAN			18	4116	+		all_cancers(37;0.0212)	1303			Helicase C-terminal.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3907G>A		.	.	.	.	.	.	.	.	.	.	G	18.21	3.573962	0.65765	2.69E-4	0.0	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.76968	-1.06;-1.06	5.48	5.48	0.80851	Helicase, C-terminal (1);	0.000000	0.51477	D	0.000092	D	0.82788	0.5113	L	0.41124	1.26	0.80722	D	1	B;P;D;D	0.61697	0.068;0.678;0.984;0.99	B;B;D;D	0.73380	0.05;0.421;0.956;0.98	T	0.76961	-0.2765	10	0.13470	T	0.59	-8.3751	19.3515	0.94389	0.0:0.0:1.0:0.0	.	829;1303;1303;1303	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1303;1303;829	ENSP00000396345:V1303I;ENSP00000381522:V1303I	ENSP00000219084:V829I	V	+	1	0	CHD9	51845896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.728000	0.74769	2.580000	0.87095	0.650000	0.86243	GTC		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		128	632	0	0	0	1	0	128	632				
KALRN	8997	broad.mit.edu	37	3	124117671	124117671	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124117671C>A	ENST00000240874.3	+	13	2450	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M	KALRN_ENST00000460856.1_Missense_Mutation_p.L765M|KALRN_ENST00000360013.3_Missense_Mutation_p.L765M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	765					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGATCAAGCTGGACATCTT	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(2293-2295)Ctg>Atg		kalirin, RhoGEF kinase							100.0	81.0	88.0					3																	124117671		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124117671C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2293C>A	3.37:g.124117671C>A	ENSP00000240874:p.Leu765Met					KALRN_ENST00000460856.1_Missense_Mutation_p.L765M|KALRN_ENST00000240874.3_Missense_Mutation_p.L765M	p.L765M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			13	2420	+			765					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.2293C>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.038179|5.038179	0.93630|0.93630	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	D;D;D|.	0.89681|.	-2.55;-2.55;-2.55|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.73877|0.73877	0.3643|0.3643	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.989;0.994;1.0|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|5	0.48119|.	T|.	0.1|.	.|.	19.1727|19.1727	0.93585|0.93585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	765;111;765;765|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	M|R	765|742	ENSP00000418611:L765M;ENSP00000240874:L765M;ENSP00000353109:L765M|.	ENSP00000240874:L765M|.	L|S	+|+	1|3	2|2	KALRN|KALRN	125600361|125600361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.651000|7.651000	0.83577|0.83577	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CTG|AGC		0.597	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		76	325	1	0	1.34568e-36	1	1.61182e-36	76	325				
LRFN5	145581	broad.mit.edu	37	14	42356113	42356113	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356113C>T	ENST00000298119.4	+	3	1474	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_ENST00000554171.1_Silent_p.F95F|LRFN5_ENST00000554120.1_Silent_p.F95F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	95						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATGCTTTCGCTGACCTAC	0.348										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(283-285)ttC>ttT		leucine rich repeat and fibronectin type III domain containing 5							56.0	57.0	57.0					14																	42356113		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356113C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.285C>T	14.37:g.42356113C>T		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.F95F|LRFN5_ENST00000298119.4_Silent_p.F95F	p.F95F			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2717	+			95					B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.285C>T	CCDS9678.1																																																																																				0.348	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		39	247	0	0	0	1	0	39	247				
PPP2R5E	5529	broad.mit.edu	37	14	64006314	64006314	+	Silent	SNP	C	C	T	rs548702302		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64006314C>T	ENST00000337537.3	-	2	692	c.90G>A	c.(88-90)tcG>tcA	p.S30S	PPP2R5E_ENST00000555899.1_Silent_p.S30S|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	30					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGGAACTTTGCGACCTCTTCT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18272	0.0		0.001	False		,,,				2504	0.0					ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(88-90)tcG>tcA		protein phosphatase 2, regulatory subunit B', epsilon isoform							177.0	149.0	158.0					14																	64006314		2203	4300	6503	SO:0001819	synonymous_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:64006314C>T	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.90G>A	14.37:g.64006314C>T						PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Silent_p.S30S	p.S30S	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	2	692	-			30					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Silent	SNP	ENST00000337537.3	37	c.90G>A	CCDS9758.1																																																																																				0.468	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		13	417	0	0	0	1	0	13	417				
NCAPG2	54892	broad.mit.edu	37	7	158457323	158457323	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158457323C>A	ENST00000409423.1	-	15	1771	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	NCAPG2_ENST00000409339.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	533					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACCAGACCTCCTCCGGCTGAT	0.572																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1597-1599)gaG>gaT		non-SMC condensin II complex, subunit G2							91.0	96.0	94.0					7																	158457323		2139	4259	6398	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158457323C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1599G>T	7.37:g.158457323C>A	ENSP00000386569:p.Glu533Asp					NCAPG2_ENST00000409423.1_Missense_Mutation_p.E533D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D	p.E533D			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	14	1712	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	533					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1599G>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.218489|4.218489	0.79464|0.79464	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.35236|.	1.32;1.41;1.41;1.49;1.41;1.41|.	5.71|5.71	3.88|3.88	0.44766|0.44766	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60196|0.60196	0.2250|0.2250	L|L	0.50333|0.50333	1.59|1.59	0.46458|0.46458	D|D	0.999054|0.999054	D;D;D;D|.	0.89917|.	1.0;0.996;0.999;1.0|.	D;P;D;D|.	0.87578|.	0.998;0.875;0.991;0.996|.	T|T	0.57985|0.57985	-0.7716|-0.7716	10|5	0.36615|.	T|.	0.2|.	-33.4837|-33.4837	11.8166|11.8166	0.52214|0.52214	0.0:0.8046:0.0:0.1954|0.0:0.8046:0.0:0.1954	.|.	533;34;325;533|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	D|M	34;533;533;325;533;34;533|335	ENSP00000442337:E34D;ENSP00000348657:E533D;ENSP00000386569:E533D;ENSP00000275830:E325D;ENSP00000387007:E533D;ENSP00000388326:E533D|.	ENSP00000275830:E325D|.	E|R	-|-	3|2	2|0	NCAPG2|NCAPG2	158150084|158150084	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	1.617000|1.617000	0.36943|0.36943	1.548000|1.548000	0.49413|0.49413	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.572	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		87	457	1	0	2.93434e-44	1	3.58945e-44	87	457				
JAK1	3716	broad.mit.edu	37	1	65332855	65332855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65332855G>A	ENST00000342505.4	-	7	932	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGTCTGATGGACTTATTCA	0.363			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(682-684)tcC>tcT		Janus kinase 1							88.0	81.0	83.0					1																	65332855		1874	4112	5986	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65332855G>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.684C>T	1.37:g.65332855G>A							p.S228S	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	7	932	-			228			FERM.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.684C>T	CCDS41346.1																																																																																				0.363	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		69	295	0	0	0	1	0	69	295				
SLC12A6	9990	broad.mit.edu	37	15	34529730	34529730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34529730G>A	ENST00000354181.3	-	22	3316	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	942					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTGAAGATCCGTATGCTGCAC	0.428																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2824-2826)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						283.0	217.0	240.0					15																	34529730		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34529730G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2824C>T	15.37:g.34529730G>A	ENSP00000346112:p.Arg942Trp					SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W	p.R942W			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	22	3316	-		all_lung(180;2.78e-08)	942					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2824C>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321633	0.81580	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.991;0.998	D	0.99204	1.0874	10	0.87932	D	0	.	17.5108	0.87759	0.0:0.0:1.0:0.0	.	927;942;891;754	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	W	891;927;933;883;883;754	ENSP00000290209:R891W;ENSP00000380819:R927W;ENSP00000380814:R883W;ENSP00000387725:R883W;ENSP00000390199:R754W	ENSP00000290209:R891W	R	-	1	2	SLC12A6	32317022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.040000	0.49799	2.662000	0.90505	0.563000	0.77884	CGG		0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		76	325	0	0	0	1	0	76	325				
KIF1A	547	broad.mit.edu	37	2	241709069	241709069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241709069G>A	ENST00000320389.7	-	15	1527	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R466W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	457					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTTCTGTCCGCCGCAGCTTC	0.627																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1396-1398)Cgg>Tgg		kinesin family member 1A							83.0	81.0	81.0					2																	241709069		2115	4250	6365	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241709069G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1369C>T	2.37:g.241709069G>A	ENSP00000322791:p.Arg457Trp					KIF1A_ENST00000320389.7_Missense_Mutation_p.R457W	p.R466W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	16	1642	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	457					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1396C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851725	0.71719	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.63;-0.71;-0.78	4.39	-0.253	0.12996	.	0.200297	0.36066	U	0.002811	D	0.83225	0.5208	M	0.76170	2.325	0.53688	D	0.999971	D;D;D	0.89917	0.998;1.0;0.987	D;D;P	0.75484	0.963;0.986;0.76	D	0.84476	0.0602	10	0.87932	D	0	.	13.2152	0.59856	0.0:0.0:0.3248:0.6752	.	466;466;457	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	457;466;466;466	ENSP00000322791:R457W;ENSP00000438388:R466W;ENSP00000384231:R466W	ENSP00000322791:R457W	R	-	1	2	KIF1A	241357742	0.394000	0.25246	0.995000	0.50966	0.977000	0.68977	0.811000	0.27198	0.295000	0.22570	0.585000	0.79938	CGG		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		28	137	0	0	0	1	0	28	137				
MMP21	118856	broad.mit.edu	37	10	127459093	127459093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127459093C>T	ENST00000368808.3	-	5	1046	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	349			E -> G (in dbSNP:rs28381302). {ECO:0000269|Ref.3}.		hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TCACCATCACCTCTCCATATT	0.418																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1045-1047)gaG>gaA		matrix metallopeptidase 21							187.0	168.0	175.0					10																	127459093		2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127459093C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1047G>A	10.37:g.127459093C>T							p.E349E	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			5	1046	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	349		E -> G (in dbSNP:rs28381302).	Hemopexin-like 1.		Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.1047G>A	CCDS7647.1																																																																																				0.418	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			90	412	0	0	0	1	0	90	412				
PPFIA1	8500	broad.mit.edu	37	11	70208223	70208223	+	Missense_Mutation	SNP	C	C	T	rs201951162	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70208223C>T	ENST00000253925.7	+	20	2820	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	869					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.R869W(1)|p.R869R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGAGGAAGCCCGGAGACAAGG	0.478													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19691	0.0		0.001	False		,,,				2504	0.0					ENST00000253925.7																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R869W(1)|p.R869R(1)	lung(1)|prostate(1)	breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2605-2607)Cgg>Tgg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							124.0	119.0	121.0					11																	70208223		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70208223C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2605C>T	11.37:g.70208223C>T	ENSP00000253925:p.Arg869Trp					PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W|AP000487.6_ENST00000528607.1_RNA	p.R869W	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		20	2820	+			869					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.2605C>T	CCDS31627.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.5	4.154992	0.78114	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.20332	2.08;2.08	5.42	4.5	0.54988	.	0.073250	0.53938	D	0.000041	T	0.41766	0.1173	M	0.61703	1.905	0.50813	D	0.999897	D;D	0.89917	0.999;1.0	P;D	0.66351	0.878;0.943	T	0.34925	-0.9809	10	0.66056	D	0.02	.	14.1851	0.65601	0.2859:0.7141:0.0:0.0	.	869;869	Q13136;Q13136-2	LIPA1_HUMAN;.	W	869;869;366	ENSP00000253925:R869W;ENSP00000374198:R869W	ENSP00000253925:R869W	R	+	1	2	PPFIA1	69885871	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.834000	0.39171	1.281000	0.44480	0.555000	0.69702	CGG		0.478	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		61	344	0	0	0	1	0	61	344				
CDKL2	8999	broad.mit.edu	37	4	76523300	76523300	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76523300A>G	ENST00000429927.2	-	8	1684	c.981T>C	c.(979-981)gaT>gaC	p.D327D	CDKL2_ENST00000307465.4_Silent_p.D327D	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	327					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)			CTAAGGAATCATCTTTTTCTT	0.274																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(979-981)gaT>gaC		cyclin-dependent kinase-like 2 (CDC2-related kinase)							38.0	38.0	38.0					4																	76523300		2197	4274	6471	SO:0001819	synonymous_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76523300A>G	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.981T>C	4.37:g.76523300A>G						CDKL2_ENST00000307465.4_Silent_p.D327D	p.D327D	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1684	-			327					B2R695	Silent	SNP	ENST00000429927.2	37	c.981T>C	CCDS3570.1																																																																																				0.274	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		37	191	0	0	0	1	0	37	191				
CTPS2	56474	broad.mit.edu	37	X	16635291	16635291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16635291C>T	ENST00000443824.1	-	16	2271	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K|CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	510	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCAATGATTTCCATCCTGTCT	0.378																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1528-1530)Gaa>Aaa		CTP synthase 2							200.0	181.0	187.0					X																	16635291		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16635291C>T	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1528G>A	X.37:g.16635291C>T	ENSP00000401264:p.Glu510Lys					CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K|CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K	p.E510K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			16	2271	-	Hepatocellular(33;0.0997)		510			Glutamine amidotransferase type-1.		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.1528G>A	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068700	0.93950	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	D;D;D	0.90676	-2.71;-2.71;-2.71	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.95917	3.74	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98106	1.0417	10	0.87932	D	0	-28.8314	18.7625	0.91858	0.0:1.0:0.0:0.0	.	510	Q9NRF8	PYRG2_HUMAN	K	510	ENSP00000401264:E510K;ENSP00000369590:E510K;ENSP00000352222:E510K	ENSP00000352222:E510K	E	-	1	0	CTPS2	16545212	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.089000	0.76909	2.482000	0.83794	0.600000	0.82982	GAA		0.378	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		156	498	0	0	0	1	0	156	498				
THADA	63892	broad.mit.edu	37	2	43768414	43768414	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43768414G>T	ENST00000405006.4	-	21	3499	c.3148C>A	c.(3148-3150)Ctg>Atg	p.L1050M	THADA_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1050										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAACATACCAGCACCATCTGC	0.403																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(3148-3150)Ctg>Atg		thyroid adenoma associated							245.0	244.0	244.0					2																	43768414		2017	4188	6205	SO:0001583	missense	63892						binding	g.chr2:43768414G>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3148C>A	2.37:g.43768414G>T	ENSP00000385995:p.Leu1050Met					THADA_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M	p.L1050M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			21	3499	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1050					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3148C>A	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.763218|3.763218	0.69763|0.69763	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.72277	.|0.3440	M|M	0.62154|0.62154	1.92|1.92	0.51012|0.51012	D|D	0.999901|0.999901	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	.|T	.|0.73544	.|-0.3949	.|10	.|0.87932	.|D	.|0	.|.	19.7706|19.7706	0.96363|0.96363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|760;1051;760;1050	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	X|M	363|760;1050;1051;760;1050	.|ENSP00000331105:L760M;ENSP00000386088:L1050M;ENSP00000416048:L760M;ENSP00000385995:L1050M	.|ENSP00000331105:L760M	C|L	-|-	3|1	2|2	THADA|THADA	43621918|43621918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.992000|3.992000	0.56980|0.56980	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGC|CTG		0.403	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		148	971	1	0	2.36156e-58	1	2.96174e-58	148	971				
ZNF133	7692	broad.mit.edu	37	20	18297040	18297040	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297040G>A	ENST00000316358.4	+	4	1642	c.1545G>A	c.(1543-1545)acG>acA	p.T515T	ZNF133_ENST00000377671.3_Silent_p.T514T|ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000396026.3_Silent_p.T518T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Silent_p.T452T|ZNF133_ENST00000535822.1_Silent_p.T420T|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	515					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCAGAGGACGCACTCAGGGG	0.622																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1540-1542)acG>acA		zinc finger protein 133							70.0	71.0	71.0					20																	18297040		2203	4300	6503	SO:0001819	synonymous_variant	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297040G>A	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1545G>A	20.37:g.18297040G>A						ZNF133_ENST00000402618.2_Silent_p.T452T|ZNF133_ENST00000396026.3_Silent_p.T518T|ZNF133_ENST00000316358.4_Silent_p.T515T|ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000535822.1_Silent_p.T420T	p.T514T	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	2101	+			515					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	37	c.1542G>A																																																																																					0.622	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		49	358	0	0	0	1	0	49	358				
SMARCA4	6597	broad.mit.edu	37	19	11107017	11107017	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11107017C>A	ENST00000429416.3	+	11	2003	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000358026.2_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	574					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACAAGGCTGCCCAGGTCGCCa	0.592			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Unknown(3)	p.?(3)	lung(2)|prostate(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1720-1722)gcC>gcA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							80.0	75.0	77.0					19																	11107017		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11107017C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1722C>A	19.37:g.11107017C>A						SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A|SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000429416.3_Silent_p.A574A|SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A	p.A574A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			10	2006	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	574					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.1722C>A	CCDS12253.1																																																																																				0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		117	490	1	0	9.16818e-52	1	1.13871e-51	117	490				
KCTD9	54793	broad.mit.edu	37	8	25293013	25293013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25293013C>A	ENST00000221200.4	-	9	899	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	227					protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGATCAGCACCACTGAAGTTC	0.348																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(679-681)Ggt>Tgt		potassium channel tetramerization domain containing 9							72.0	69.0	70.0					8																	25293013		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25293013C>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.679G>T	8.37:g.25293013C>A	ENSP00000221200:p.Gly227Cys						p.G227C	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	9	899	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	227					Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.679G>T	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885195	0.91814	.	.	ENSG00000104756	ENST00000221200	T	0.51817	0.69	5.54	5.54	0.83059	.	0.000000	0.85682	U	0.000000	T	0.77075	0.4077	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81739	-0.0795	10	0.87932	D	0	.	19.8472	0.96713	0.0:1.0:0.0:0.0	.	227	Q7L273	KCTD9_HUMAN	C	227	ENSP00000221200:G227C	ENSP00000221200:G227C	G	-	1	0	KCTD9	25348930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GGT		0.348	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		15	226	1	0	9.16793e-09	1	9.60025e-09	15	226				
DYNC1H1	1778	broad.mit.edu	37	14	102498609	102498609	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102498609C>A	ENST00000360184.4	+	52	10048	c.9884C>A	c.(9883-9885)gCt>gAt	p.A3295D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3295	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCACTCAGCTGTGAAGTCG	0.567																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e52-1		dynein, cytoplasmic 1, heavy chain 1							210.0	198.0	202.0					14																	102498609		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102498609C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9884-1C>A	14.37:g.102498609C>A							p.A3295_splice	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			52	10048	+			3295			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	c.9883_splice	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	37	6.315928	0.97467	.	.	ENSG00000197102	ENST00000360184	T	0.80653	-1.4	5.3	5.3	0.74995	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91811	0.7409	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92794	0.6251	9	.	.	.	.	19.3256	0.94261	0.0:1.0:0.0:0.0	.	3295	Q14204	DYHC1_HUMAN	D	3295	ENSP00000348965:A3295D	.	A	+	2	0	DYNC1H1	101568362	1.000000	0.71417	0.860000	0.33809	0.886000	0.51366	7.729000	0.84864	2.642000	0.89623	0.467000	0.42956	GCT		0.567	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Missense_Mutation	24	1439	1	0	9.31168e-06	1	9.55451e-06	24	1439				
ZYX	7791	broad.mit.edu	37	7	143079460	143079460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079460G>T	ENST00000322764.5	+	3	673	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	110					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGCGCCTCTGGAGGAGGAGAT	0.701																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(328-330)Gag>Tag		zyxin							18.0	20.0	20.0					7																	143079460		2203	4300	6503	SO:0001587	stop_gained	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079460G>T	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.328G>T	7.37:g.143079460G>T	ENSP00000324422:p.Glu110*					ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*	p.E110*	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			3	673	+	Melanoma(164;0.205)		110					A4D2G6|Q6I9S4	Nonsense_Mutation	SNP	ENST00000322764.5	37	c.328G>T	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	39	7.639934	0.98406	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000354434;ENST00000449423	.	.	.	3.41	2.47	0.30058	.	1.454090	0.04456	N	0.373560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	9.4854	0.38926	0.0:0.0:0.7876:0.2124	.	.	.	.	X	110;79;110;109;54	.	ENSP00000324422:E110X	E	+	1	0	ZYX	142789582	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	5.334000	0.65923	0.558000	0.29135	0.561000	0.74099	GAG		0.701	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		10	118	1	0	9.70103e-10	1	1.02402e-09	10	118				
VCX3B	425054	broad.mit.edu	37	X	8434386	8434386	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8434386A>G	ENST00000381032.1	+	3	1010	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	235	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAACCACTGAGTCAGGAGAG	0.567																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(703-705)Agt>Ggt		variable charge, X-linked 3B							85.0	219.0	173.0					X																	8434386		2160	4193	6353	SO:0001583	missense	0					nucleolus		g.chrX:8434386A>G		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.703A>G	X.37:g.8434386A>G	ENSP00000370420:p.Ser235Gly					VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G	p.S235G	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			3	1010	+			81					C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	c.703A>G	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	7.916	0.737629	0.15574	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.18502	2.21;2.21;2.21	0.601	-0.859	0.10685	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.35251	-0.9796	9	0.34782	T	0.22	.	3.9426	0.09334	0.7175:0.0:0.2825:0.0	.	205	Q9H321	VCX3B_HUMAN	G	235;205;203	ENSP00000370420:S235G;ENSP00000414780:S205G;ENSP00000370417:S203G	ENSP00000370417:S203G	S	+	1	0	VCX3B	8394386	0.005000	0.15991	0.006000	0.13384	0.028000	0.11728	0.093000	0.15086	-0.284000	0.09102	0.354000	0.21935	AGT		0.567	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			266	960	0	0	0	1	0	266	960				
KIAA1549L	25758	broad.mit.edu	37	11	33572673	33572673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33572673G>A	ENST00000321505.4	+	4	2878	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E906K|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E906K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	900						integral component of membrane (GO:0016021)											TGTGGTGATCGAAATGCTGGG	0.463																																						ENST00000321505.4																			0											c.(2698-2700)Gaa>Aaa		KIAA1549-like							210.0	211.0	210.0					11																	33572673		2165	4265	6430	SO:0001583	missense	25758							g.chr11:33572673G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2698G>A	11.37:g.33572673G>A	ENSP00000315295:p.Glu900Lys					KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E906K|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E906K	p.E900K							4	2878	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.2698G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222933	0.58668	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	6.17	6.17	0.99709	.	0.421117	0.29273	N	0.012636	T	0.59335	0.2186	L	0.27053	0.805	0.39925	D	0.974203	D;D	0.61080	0.957;0.989	B;P	0.52758	0.225;0.708	T	0.61043	-0.7142	9	0.54805	T	0.06	-4.4623	18.6524	0.91435	0.0:0.0:1.0:0.0	.	906;906	E9PAT2;Q6ZVL6-2	.;.	K	900;906;906;739	.	ENSP00000265654:E906K	E	+	1	0	C11orf41	33529249	1.000000	0.71417	0.110000	0.21437	0.185000	0.23345	7.224000	0.78042	2.941000	0.99782	0.655000	0.94253	GAA		0.463	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		240	431	0	0	0	1	0	240	431				
PRSS12	8492	broad.mit.edu	37	4	119253000	119253000	+	Missense_Mutation	SNP	C	C	T	rs199814947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119253000C>T	ENST00000296498.3	-	4	1124	c.842G>A	c.(841-843)cGc>cAc	p.R281H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	281	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCAGCAAGGCGAATGATGGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		17751	0.001		0.0	False		,,,				2504	0.0					ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(841-843)cGc>cAc		protease, serine, 12 (neurotrypsin, motopsin)							75.0	69.0	71.0					4																	119253000		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119253000C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.842G>A	4.37:g.119253000C>T	ENSP00000296498:p.Arg281His						p.R281H	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			4	1124	-			281			SRCR 2.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.842G>A	CCDS3709.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.21	3.574041	0.65765	.	.	ENSG00000164099	ENST00000296498	T	0.53857	0.6	6.04	5.19	0.71726	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	H	0.98883	4.36	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90794	0.4689	10	0.87932	D	0	.	15.8315	0.78757	0.0:0.8652:0.1348:0.0	.	281	P56730	NETR_HUMAN	H	281	ENSP00000296498:R281H	ENSP00000296498:R281H	R	-	2	0	PRSS12	119472448	1.000000	0.71417	0.734000	0.30879	0.017000	0.09413	7.118000	0.77137	1.557000	0.49525	0.561000	0.74099	CGC		0.458	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			51	260	0	0	0	1	0	51	260				
FAM47B	170062	broad.mit.edu	37	X	34961295	34961295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961295C>T	ENST00000329357.5	+	1	383	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	116										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCACGGAAGGCGTTCGTAGAG	0.542																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(346-348)gCg>gTg		family with sequence similarity 47, member B							91.0	83.0	86.0					X																	34961295		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961295C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.347C>T	X.37:g.34961295C>T	ENSP00000328307:p.Ala116Val						p.A116V	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	383	+			116					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.347C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822692	0.16678	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	0.843	0.18935	.	.	.	.	.	T	0.14917	0.0360	L	0.38953	1.18	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.21177	-1.0253	9	0.45353	T	0.12	.	7.2872	0.26346	0.0:0.9999:0.0:1.0E-4	.	116	Q8NA70	FA47B_HUMAN	V	116	ENSP00000328307:A116V	ENSP00000328307:A116V	A	+	2	0	FAM47B	34871216	0.002000	0.14202	0.016000	0.15963	0.006000	0.05464	0.074000	0.14662	0.695000	0.31675	0.292000	0.19580	GCG		0.542	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		106	371	0	0	0	1	0	106	371				
BUD13	84811	broad.mit.edu	37	11	116627904	116627904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116627904C>A	ENST00000260210.4	-	9	1747	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	BUD13_ENST00000375445.3_Missense_Mutation_p.R441I	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	575					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GATATTAAATCTGTTGGGAGG	0.443																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1723-1725)aGa>aTa		BUD13 homolog (S. cerevisiae)							81.0	77.0	78.0					11																	116627904		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116627904C>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1724G>T	11.37:g.116627904C>A	ENSP00000260210:p.Arg575Ile					BUD13_ENST00000375445.3_Missense_Mutation_p.R441I	p.R575I	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	9	1747	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	575					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1724G>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454206	0.96223	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.68181	0.07;-0.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90556	0.4512	10	0.87932	D	0	-17.0014	20.5801	0.99389	0.0:1.0:0.0:0.0	.	441;575	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	I	441;575	ENSP00000364594:R441I;ENSP00000260210:R575I	ENSP00000260210:R575I	R	-	2	0	BUD13	116133114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.287000	0.78681	2.873000	0.98535	0.643000	0.83706	AGA		0.443	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		29	141	1	0	4.02929e-09	1	4.23443e-09	29	141				
PFKFB1	5207	broad.mit.edu	37	X	54978518	54978518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54978518G>A	ENST00000375006.3	-	8	736	c.666C>T	c.(664-666)gaC>gaT	p.D222D	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.D157D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	222	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTGCCCACGTCGAAGATCT	0.567																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(664-666)gaC>gaT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							137.0	90.0	106.0					X																	54978518		2203	4300	6503	SO:0001819	synonymous_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54978518G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.666C>T	X.37:g.54978518G>A						PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.D157D	p.D222D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			8	736	-			222			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	c.666C>T	CCDS14364.1																																																																																				0.567	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			39	106	0	0	0	1	0	39	106				
NEFH	4744	broad.mit.edu	37	22	29886650	29886650	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29886650T>A	ENST00000310624.6	+	4	3054	c.3021T>A	c.(3019-3021)ccT>ccA	p.P1007P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	1013	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						ACAGCAAGCCTCCAGAGAAGG	0.517																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(3019-3021)ccT>ccA		neurofilament, heavy polypeptide							32.0	34.0	33.0					22																	29886650		2202	4300	6502	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29886650T>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.3021T>A	22.37:g.29886650T>A							p.P1007P	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	3054	+			1013			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.3021T>A	CCDS13858.1																																																																																				0.517	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		51	175	0	0	0	1	0	51	175				
MYO16	23026	broad.mit.edu	37	13	109817315	109817315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109817315C>T	ENST00000357550.2	+	32	5206	c.5165C>T	c.(5164-5166)aCt>aTt	p.T1722I	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.T1722I	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTTCCGAGACTCAAGACAGA	0.323																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(5164-5166)aCt>aTt		myosin XVI							59.0	56.0	57.0					13																	109817315		2203	4299	6502	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109817315C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5165C>T	13.37:g.109817315C>T	ENSP00000350160:p.Thr1722Ile					MYO16_ENST00000357550.2_Missense_Mutation_p.T1722I|MYO16-AS1_ENST00000439299.1_RNA	p.T1722I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		33	5291	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1722						Missense_Mutation	SNP	ENST00000357550.2	37	c.5165C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745984	0.49151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.80566	-1.39;-1.39	5.49	4.64	0.57946	.	0.000000	0.41823	U	0.000818	T	0.74921	0.3780	L	0.60455	1.87	0.80722	D	1	B	0.28713	0.22	B	0.28139	0.086	T	0.70831	-0.4765	9	.	.	.	.	10.7029	0.45937	0.0:0.9123:0.0:0.0877	.	1722	Q9Y6X6	MYO16_HUMAN	I	1722	ENSP00000349145:T1722I;ENSP00000350160:T1722I	.	T	+	2	0	MYO16	108615316	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	1.983000	0.40648	2.579000	0.87056	0.557000	0.71058	ACT		0.323	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		23	115	0	0	0	1	0	23	115				
AEBP2	121536	broad.mit.edu	37	12	19671045	19671045	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19671045G>A	ENST00000398864.3	+	8	1532	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	AEBP2_ENST00000266508.9_Silent_p.K502K|AEBP2_ENST00000360995.4_Silent_p.K286K|AEBP2_ENST00000541908.1_Silent_p.K273K	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	502	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGAGGTTGAAGAGGTAAAAAA	0.348																																						ENST00000266508.9																			0				ovary(1)	1						c.(1504-1506)aaG>aaA		AE binding protein 2							32.0	28.0	29.0					12																	19671045		1802	4078	5880	SO:0001819	synonymous_variant	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19671045G>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1506G>A	12.37:g.19671045G>A						AEBP2_ENST00000360995.4_Silent_p.K286K|AEBP2_ENST00000398864.3_Silent_p.K502K|AEBP2_ENST00000541908.1_Silent_p.K273K	p.K502K	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			8	1507	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		502			Interaction with SUZ12.		Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	37	c.1506G>A	CCDS44841.1																																																																																				0.348	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		7	50	0	0	0	1	0	7	50				
CDC42BPG	55561	broad.mit.edu	37	11	64606559	64606559	+	Silent	SNP	C	C	T	rs56393929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64606559C>T	ENST00000342711.5	-	7	821	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CATAGAAGGGCGTCTCCCCAA	0.612																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(820-822)acG>acA		CDC42 binding protein kinase gamma (DMPK-like)							105.0	97.0	100.0					11																	64606559		2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606559C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.822G>A	11.37:g.64606559C>T							p.T274T	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			7	821	-			274			Protein kinase.			Silent	SNP	ENST00000342711.5	37	c.822G>A	CCDS31601.1																																																																																				0.612	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		82	375	0	0	0	1	0	82	375				
GCKR	2646	broad.mit.edu	37	2	27730853	27730853	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27730853C>G	ENST00000264717.2	+	15	1313	c.1250C>G	c.(1249-1251)aCg>aGg	p.T417R	GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	417	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACAACCTCACGGAGGTGCAG	0.587																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(1249-1251)aCg>aGg		glucokinase (hexokinase 4) regulator							68.0	61.0	63.0					2																	27730853		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27730853C>G	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1250C>G	2.37:g.27730853C>G	ENSP00000264717:p.Thr417Arg					GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	p.T417R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			15	1313	+	Acute lymphoblastic leukemia(172;0.155)		417			SIS 2.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1250C>G	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.050|0.050	-1.253246|-1.253246	0.01457|0.01457	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000411584|ENST00000264717;ENST00000424318	.|D;D	.|0.83163	.|-1.69;-1.69	4.22|4.22	-5.34|-5.34	0.02705|0.02705	.|Sugar isomerase (SIS) (1);	.|1.403430	.|0.04249	.|N	.|0.338374	T|T	0.67477|0.67477	0.2897|0.2897	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.15141	.|0.01;0.012;0.01	.|B;B;B	.|0.15870	.|0.006;0.014;0.01	T|T	0.51450|0.51450	-0.8704|-0.8704	5|10	.|0.25106	.|T	.|0.35	0.8822|0.8822	4.6676|4.6676	0.12673|0.12673	0.2519:0.2608:0.0:0.4873|0.2519:0.2608:0.0:0.4873	.|.	.|227;415;417	.|F5H1P6;A8K731;Q14397	.|.;.;GCKR_HUMAN	G|R	118|417;227	.|ENSP00000264717:T417R;ENSP00000409109:T227R	.|ENSP00000264717:T417R	R|T	+|+	1|2	2|0	GCKR|GCKR	27584357|27584357	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-1.289000|-1.289000	0.02780|0.02780	-1.548000|-1.548000	0.01712|0.01712	-1.648000|-1.648000	0.00760|0.00760	CGG|ACG		0.587	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		28	163	0	0	0	1	0	28	163				
SETD2	29072	broad.mit.edu	37	3	47164368	47164368	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164368A>C	ENST00000409792.3	-	3	1800	c.1758T>G	c.(1756-1758)caT>caG	p.H586Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	586					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACTAAAAGAATGAGACTGTT	0.323			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(1756-1758)caT>caG		SET domain containing 2							46.0	52.0	50.0					3																	47164368		2195	4293	6488	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164368A>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1758T>G	3.37:g.47164368A>C	ENSP00000386759:p.His586Gln						p.H586Q	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1800	-		Acute lymphoblastic leukemia(5;0.0169)	586					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.1758T>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925895	0.34002	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88201	-2.35;1.5	5.43	5.43	0.79202	.	0.105088	0.42548	D	0.000693	T	0.81422	0.4819	N	0.19112	0.55	0.36693	D	0.879687	P;P	0.42827	0.791;0.791	B;B	0.37650	0.255;0.255	D	0.86994	0.2112	10	0.87932	D	0	.	14.2096	0.65755	1.0:0.0:0.0:0.0	.	586;586	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	586;586;586;542	ENSP00000386759:H586Q;ENSP00000416401:H542Q	ENSP00000386759:H586Q	H	-	3	2	SETD2	47139372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.058000	0.49939	2.277000	0.76020	0.528000	0.53228	CAT		0.323	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		64	274	0	0	0	1	0	64	274				
KIF20B	9585	broad.mit.edu	37	10	91469201	91469201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91469201A>C	ENST00000371728.3	+	4	399	c.334A>C	c.(334-336)Aaa>Caa	p.K112Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q|KIF20B_ENST00000416354.1_Missense_Mutation_p.K112Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	112	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATGGCACAGAAATTCAGTTT	0.373																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(334-336)Aaa>Caa		kinesin family member 20B							86.0	85.0	86.0					10																	91469201		2203	4300	6503	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91469201A>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.334A>C	10.37:g.91469201A>C	ENSP00000360793:p.Lys112Gln					KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.K112Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q	p.K112Q			Q96Q89	KI20B_HUMAN			4	406	+			112			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.334A>C		.	.	.	.	.	.	.	.	.	.	A	21.0	4.077178	0.76415	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.26	5.26	0.73747	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000097	T	0.73125	0.3547	N	0.20766	0.605	0.35744	D	0.818899	P;B	0.42941	0.794;0.03	P;B	0.54372	0.75;0.049	T	0.78295	-0.2259	10	0.35671	T	0.21	-16.5905	15.4672	0.75409	1.0:0.0:0.0:0.0	.	112;112	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	112	ENSP00000260753:K112Q;ENSP00000411545:K112Q;ENSP00000377830:K112Q;ENSP00000360793:K112Q;ENSP00000390946:K112Q	ENSP00000260753:K112Q	K	+	1	0	KIF20B	91459181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.718000	0.68455	2.104000	0.64026	0.533000	0.62120	AAA		0.373	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		117	502	0	0	0	1	0	117	502				
HSD3B7	80270	broad.mit.edu	37	16	30999413	30999413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999413G>A	ENST00000297679.5	+	7	1112	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	340					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.R340L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGCTCAGCGCCATTTCGGC	0.647																																						ENST00000297679.5																			1	Substitution - Missense(1)	p.R340L(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1018-1020)cGc>cAc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							41.0	36.0	38.0					16																	30999413		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999413G>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.1019G>A	16.37:g.30999413G>A	ENSP00000297679:p.Arg340His					HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	p.R340H	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			7	1112	+			340					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.1019G>A	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504362	0.85176	.	.	ENSG00000099377	ENST00000297679	T	0.65549	-0.16	5.17	4.2	0.49525	.	0.105382	0.64402	D	0.000019	T	0.69869	0.3159	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.71636	-0.4533	10	0.62326	D	0.03	-24.6471	9.4788	0.38889	0.1662:0.0:0.8338:0.0	.	340	Q9H2F3	3BHS7_HUMAN	H	340	ENSP00000297679:R340H	ENSP00000297679:R340H	R	+	2	0	HSD3B7	30906914	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	3.539000	0.53604	2.398000	0.81561	0.655000	0.94253	CGC		0.647	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			34	192	0	0	0	1	0	34	192				
TRPV2	51393	broad.mit.edu	37	17	16330160	16330160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330160C>T	ENST00000338560.7	+	7	1619	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	407					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTTCACCGCTGTTGCCTAC	0.532																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1219-1221)gCt>gTt		transient receptor potential cation channel, subfamily V, member 2							111.0	85.0	94.0					17																	16330160		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16330160C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1220C>T	17.37:g.16330160C>T	ENSP00000342222:p.Ala407Val					TRPV2_ENST00000577397.1_Intron	p.A407V	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	7	1619	+			407					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1220C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283833	0.23392	.	.	ENSG00000187688	ENST00000338560	D	0.88431	-2.38	5.78	4.58	0.56647	.	0.461480	0.25964	N	0.027178	T	0.76485	0.3994	N	0.12831	0.26	0.09310	N	0.999993	B	0.06786	0.001	B	0.10450	0.005	T	0.60667	-0.7218	10	0.20046	T	0.44	-28.5902	8.3753	0.32440	0.0:0.7901:0.0:0.2099	.	407	Q9Y5S1	TRPV2_HUMAN	V	407	ENSP00000342222:A407V	ENSP00000342222:A407V	A	+	2	0	TRPV2	16270885	0.000000	0.05858	0.001000	0.08648	0.582000	0.36321	0.516000	0.22817	1.105000	0.41606	0.557000	0.71058	GCT		0.532	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		60	268	0	0	0	1	0	60	268				
FAT4	79633	broad.mit.edu	37	4	126371527	126371527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371527C>T	ENST00000394329.3	+	9	9369	c.9356C>T	c.(9355-9357)gCg>gTg	p.A3119V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1417V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3119	Cadherin 30. {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						AGAGATGCAGCGATGAATGGC	0.413																																						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.(9355-9357)gCg>gTg		FAT atypical cadherin 4							73.0	69.0	70.0					4																	126371527		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371527C>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.9356C>T	4.37:g.126371527C>T	ENSP00000377862:p.Ala3119Val					FAT4_ENST00000335110.5_Missense_Mutation_p.A1417V	p.A3119V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9369	+			3119			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9356C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303988	0.40795	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.53423	0.62;0.62	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	U	0.004240	T	0.60715	0.2290	L	0.56199	1.76	0.47065	D	0.999304	P;D;D	0.69078	0.948;0.992;0.997	B;P;P	0.55345	0.301;0.689;0.774	T	0.63065	-0.6720	10	0.87932	D	0	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1417;3119;3119	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3119;1417	ENSP00000377862:A3119V;ENSP00000335169:A1417V	ENSP00000335169:A1417V	A	+	2	0	FAT4	126590977	0.997000	0.39634	0.173000	0.22940	0.068000	0.16541	4.202000	0.58446	2.652000	0.90054	0.655000	0.94253	GCG		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		29	309	0	0	0	1	0	29	309				
EIF4G1	1981	broad.mit.edu	37	3	184039075	184039075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039075C>T	ENST00000346169.2	+	10	974	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R235W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	235					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCAGATGACCGGTCACAGGG	0.557																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(703-705)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 1							83.0	81.0	82.0					3																	184039075		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039075C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.703C>T	3.37:g.184039075C>T	ENSP00000316879:p.Arg235Trp					EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R235W	p.R235W	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1117	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		235					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.703C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997630	0.54147	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	3.86;3.85;3.78;0.71;2.75;2.75;3.86;2.9;3.67;3.86;3.79;3.86;3.86;3.86;3.85;2.29;3.67;0.66;3.65;0.54;1.28;3.63	5.54	3.73	0.42828	.	0.504049	0.20782	N	0.085777	T	0.55273	0.1910	N	0.24115	0.695	0.41002	D	0.984934	B;D;D;B	0.76494	0.007;0.999;0.999;0.14	B;D;D;B	0.71870	0.002;0.975;0.952;0.015	T	0.59327	-0.7475	10	0.66056	D	0.02	-16.9319	9.9227	0.41474	0.0:0.838:0.0:0.162	.	242;235;235;242	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	W	235;195;148;39;235;242;242;176;71;242;148;235;235;242;195;71;71;39;39;39;39;39	ENSP00000316879:R235W;ENSP00000391935:R195W;ENSP00000376320:R148W;ENSP00000407244:R39W;ENSP00000391412:R235W;ENSP00000413159:R242W;ENSP00000371767:R242W;ENSP00000403269:R176W;ENSP00000317600:R71W;ENSP00000338020:R242W;ENSP00000407682:R148W;ENSP00000343450:R235W;ENSP00000323737:R235W;ENSP00000416255:R242W;ENSP00000395974:R195W;ENSP00000398145:R71W;ENSP00000399858:R71W;ENSP00000411707:R39W;ENSP00000411826:R39W;ENSP00000409545:R39W;ENSP00000399969:R39W;ENSP00000404754:R39W	ENSP00000323737:R235W	R	+	1	2	EIF4G1	185521769	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.261000	0.32980	1.585000	0.49928	0.655000	0.94253	CGG		0.557	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		18	487	0	0	0	1	0	18	487				
C8orf76	84933	broad.mit.edu	37	8	124243660	124243660	+	Missense_Mutation	SNP	C	C	T	rs138956285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124243660C>T	ENST00000276704.4	-	4	746	c.695G>A	c.(694-696)aGc>aAc	p.S232N	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.S200N|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	232										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTATTACTGCTATTCGCTTC	0.383																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(694-696)aGc>aAc		chromosome 8 open reading frame 76		C	ASN/SER,ASN/SER	0,4406		0,0,2203	95.0	94.0	94.0		599,695	4.6	0.0	8	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C8orf76,ZHX1-C8ORF76	NM_001204180.1,NM_032847.2	46,46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	200/293,232/381	124243660	1,13005	2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124243660C>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.695G>A	8.37:g.124243660C>T	ENSP00000276704:p.Ser232Asn					C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.S200N	p.S232N	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	746	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		232					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.695G>A	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006942	0.35415	0.0	1.16E-4	ENSG00000189376	ENST00000276704;ENST00000357082	.	.	.	5.48	4.59	0.56863	.	0.506912	0.22723	N	0.056434	T	0.37376	0.1001	L	0.59436	1.845	0.09310	N	1	B;B	0.21520	0.021;0.057	B;B	0.18871	0.023;0.023	T	0.32955	-0.9887	9	0.07175	T	0.84	1.0844	8.1557	0.31167	0.1584:0.7615:0.0:0.0801	.	200;232	Q96EF9;Q96K31	.;CH076_HUMAN	N	232;200	.	ENSP00000276704:S232N	S	-	2	0	C8orf76	124312841	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	0.535000	0.23114	1.298000	0.44778	0.655000	0.94253	AGC		0.383	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		85	384	0	0	0	1	0	85	384				
CECR2	27443	broad.mit.edu	37	22	18021876	18021876	+	Missense_Mutation	SNP	C	C	A	rs200166225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18021876C>A	ENST00000400585.2	+	16	1993	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	CECR2_ENST00000400573.5_Missense_Mutation_p.P660T|CECR2_ENST00000262608.8_Missense_Mutation_p.P661T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	702	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTCCGAGGACCCAGGCTAGG	0.537													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18982	0.0		0.0	False		,,,				2504	0.0					ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1981-1983)Ccc>Acc		cat eye syndrome chromosome region, candidate 2		C	THR/PRO	20,3952		0,20,1966	34.0	34.0	34.0		1978	4.2	0.9	22		34	1,8319		0,1,4159	yes	missense	CECR2	NM_031413.3	38	0,21,6125	AA,AC,CC		0.012,0.5035,0.1708	benign	660/1443	18021876	21,12271	1986	4160	6146	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18021876C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1555C>A	22.37:g.18021876C>A	ENSP00000383428:p.Pro519Thr					CECR2_ENST00000400585.2_Missense_Mutation_p.P519T|CECR2_ENST00000400573.4_Missense_Mutation_p.P660T	p.P661T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	1981	+		all_epithelial(15;0.139)	702					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1981C>A		.	.	.	.	.	.	.	.	.	.	C	10.40	1.338446	0.24253	0.005035	1.2E-4	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.25085	1.94;1.94;1.82	5.21	4.19	0.49359	.	0.247728	0.28706	N	0.014409	T	0.19765	0.0475	L	0.56769	1.78	0.33570	D	0.598544	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.26189	-1.0110	10	0.45353	T	0.12	-11.8315	13.0016	0.58679	0.0:0.9212:0.0:0.0788	.	702;519;660	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	519;660;661	ENSP00000383428:P519T;ENSP00000383417:P660T;ENSP00000262608:P661T	ENSP00000262608:P661T	P	+	1	0	CECR2	16401876	0.981000	0.34729	0.915000	0.36163	0.467000	0.32768	1.946000	0.40283	1.408000	0.46895	0.655000	0.94253	CCC		0.537	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	76	1	0	7.03913e-09	1	7.37812e-09	12	76				
SF1	7536	broad.mit.edu	37	11	64536602	64536602	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64536602C>T	ENST00000377390.3	-	8	1117		c.e8-1		SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000377394.3_Splice_Site|SF1_ENST00000227503.9_Splice_Site	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCTTAAGATCCTATTAAAGGA	0.458																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.e8-1		splicing factor 1							107.0	112.0	110.0					11																	64536602		2201	4297	6498	SO:0001630	splice_region_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536602C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.780-1G>A	11.37:g.64536602C>T						SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000227503.9_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000377394.3_Splice_Site		NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			8	1117	-								B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Splice_Site	SNP	ENST00000377390.3	37		CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810024	0.70797	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5751	0.87946	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF1	64293178	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	7.260000	0.78391	2.752000	0.94435	0.557000	0.71058	.		0.458	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	Intron	94	374	0	0	0	1	0	94	374				
ADAR	103	broad.mit.edu	37	1	154569664	154569664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154569664C>T	ENST00000368474.4	-	5	2213	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ADAR_ENST00000368471.3_Missense_Mutation_p.A377T|ADAR_ENST00000292205.5_Missense_Mutation_p.A715T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	672	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCTCTGCGGCCATCTGCTTT	0.532																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2014-2016)Gcc>Acc		adenosine deaminase, RNA-specific							72.0	68.0	70.0					1																	154569664		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154569664C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2014G>A	1.37:g.154569664C>T	ENSP00000357459:p.Ala672Thr					ADAR_ENST00000368471.3_Missense_Mutation_p.A377T|ADAR_ENST00000292205.5_Missense_Mutation_p.A715T	p.A672T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	5	2213	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		672			DRBM 2.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2014G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	36	5.771357	0.96922	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97553	1.0093	10	0.66056	D	0.02	-17.8525	19.4276	0.94749	0.0:1.0:0.0:0.0	.	672;672;672	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	T	715;672;377;667	ENSP00000292205:A715T;ENSP00000357459:A672T;ENSP00000357456:A377T;ENSP00000431794:A667T	ENSP00000292205:A715T	A	-	1	0	ADAR	152836288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.813000	0.96785	0.655000	0.94253	GCC		0.532	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		65	336	0	0	0	1	0	65	336				
SHROOM1	134549	broad.mit.edu	37	5	132160909	132160909	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160909T>C	ENST00000378679.3	-	4	1728	c.924A>G	c.(922-924)tcA>tcG	p.S308S	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.S308S|SHROOM1_ENST00000378676.1_Silent_p.S308S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	308					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGACTTCGCCTGAAGCGCTCC	0.617																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(922-924)tcA>tcG		shroom family member 1							39.0	44.0	42.0					5																	132160909		2203	4300	6503	SO:0001819	synonymous_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160909T>C	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.924A>G	5.37:g.132160909T>C						SHROOM1_ENST00000319854.3_Silent_p.S308S|SHROOM1_ENST00000378676.1_Silent_p.S308S	p.S308S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	1728	-			308					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	c.924A>G	CCDS54902.1																																																																																				0.617	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		36	151	0	0	0	1	0	36	151				
CEP76	79959	broad.mit.edu	37	18	12686292	12686292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12686292C>T	ENST00000262127.2	-	8	1316	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PSMG2_ENST00000589405.1_3'UTR|CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	364					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCAGAGTGCACCACTGCTC	0.408																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1090-1092)tGc>tAc		centrosomal protein 76kDa							93.0	86.0	88.0					18																	12686292		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12686292C>T	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1091G>A	18.37:g.12686292C>T	ENSP00000262127:p.Cys364Tyr					CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y|RP11-973H7.2_ENST00000585331.1_RNA	p.C364Y	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			8	1316	-			364					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1091G>A	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329103	0.41197	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80304	-1.36;-1.34	5.74	5.74	0.90152	.	0.086622	0.85682	D	0.000000	T	0.79941	0.4533	M	0.61703	1.905	0.58432	D	0.999999	P;P;P	0.47302	0.893;0.63;0.456	P;B;B	0.45310	0.476;0.142;0.188	T	0.76672	-0.2873	10	0.02654	T	1	-9.2993	19.9135	0.97033	0.0:1.0:0.0:0.0	.	289;364;186	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	Y	364;289	ENSP00000262127:C364Y;ENSP00000403074:C289Y	ENSP00000262127:C364Y	C	-	2	0	CEP76	12676292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.711000	0.92665	0.591000	0.81541	TGC		0.408	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		59	300	0	0	0	1	0	59	300				
GPR26	2849	broad.mit.edu	37	10	125447554	125447554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125447554C>T	ENST00000284674.1	+	3	945	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	298					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R298*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCTTACTGCGACACCAGTA	0.597																																						ENST00000284674.1																			1	Substitution - Nonsense(1)	p.R298*(1)	breast(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(892-894)Cga>Tga		G protein-coupled receptor 26							84.0	74.0	78.0					10																	125447554		2203	4300	6503	SO:0001587	stop_gained	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125447554C>T		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.892C>T	10.37:g.125447554C>T	ENSP00000284674:p.Arg298*						p.R298*	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			3	945	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	298					Q2M2E2	Nonsense_Mutation	SNP	ENST00000284674.1	37	c.892C>T	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743927	0.96873	.	.	ENSG00000154478	ENST00000284674	.	.	.	5.59	-0.214	0.13161	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-4.1452	7.6698	0.28453	0.3459:0.5221:0.0:0.132	.	.	.	.	X	298	.	ENSP00000284674:R298X	R	+	1	2	GPR26	125437544	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	2.309000	0.43699	0.259000	0.21709	-0.237000	0.12165	CGA		0.597	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			65	379	0	0	0	1	0	65	379				
CERK	64781	broad.mit.edu	37	22	47116880	47116880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47116880C>T	ENST00000216264.8	-	2	287	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	59	Required for binding to sulfatide and phosphoinositides.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCAACGGCGATGATCTCA	0.443																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(175-177)Gcc>Acc		ceramide kinase							198.0	179.0	185.0					22																	47116880		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47116880C>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.175G>A	22.37:g.47116880C>T	ENSP00000216264:p.Ala59Thr					CERK_ENST00000541677.1_5'UTR	p.A59T	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	287	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	59			Required for binding to sulfatide and phosphoinositides.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.175G>A	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049190	0.19827	.	.	ENSG00000100422	ENST00000216264	T	0.17854	2.25	4.97	-6.69	0.01772	Pleckstrin homology domain (1);	0.773503	0.12547	N	0.459389	T	0.08537	0.0212	N	0.19112	0.55	0.30647	N	0.75581	B	0.18310	0.027	B	0.11329	0.006	T	0.32508	-0.9904	10	0.19590	T	0.45	-12.3365	12.5308	0.56113	0.1105:0.7122:0.0:0.1772	.	59	Q8TCT0	CERK1_HUMAN	T	59	ENSP00000216264:A59T	ENSP00000216264:A59T	A	-	1	0	CERK	45495544	0.456000	0.25744	0.004000	0.12327	0.304000	0.27724	-0.668000	0.05268	-1.512000	0.01791	-0.259000	0.10710	GCC		0.443	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		114	554	0	0	0	1	0	114	554				
RABL2B	11158	broad.mit.edu	37	22	51208393	51208393	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51208393T>C	ENST00000395598.3	-	6	560	c.349A>G	c.(349-351)Aca>Gca	p.T117A	RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395595.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A|RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	117					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGCTCTGTATACCAGGTG	0.498																																					GBM(148;358 1894 4987 13698 40400)	ENST00000395595.3																			0				lung(1)	1						c.(349-351)Aca>Gca		RAB, member of RAS oncogene family-like 2B							55.0	54.0	55.0					22																	51208393		2202	4296	6498	SO:0001583	missense	11158				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr22:51208393T>C		CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.349A>G	22.37:g.51208393T>C	ENSP00000378962:p.Thr117Ala					RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000395598.3_Missense_Mutation_p.T117A|RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A	p.T117A	NM_001130921.1	NP_001124393.1	Q9UNT1	RBL2B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)	7	816	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	117					Q5TZT8|Q96C33	Missense_Mutation	SNP	ENST00000395598.3	37	c.349A>G	CCDS14102.1	.	.	.	.	.	.	.	.	.	.	T	0.071	-1.202051	0.01581	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395595	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.9	-5.15	0.02866	Small GTP-binding protein domain (1);	0.643224	0.16329	N	0.219208	T	0.50000	0.1590	N	0.12611	0.24	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.001;0.006;0.003	T	0.29243	-1.0018	10	0.48119	T	0.1	-0.5868	2.8444	0.05539	0.1304:0.1695:0.1294:0.5707	.	117;117;117	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	A	117	ENSP00000401906:T117A;ENSP00000346940:T117A;ENSP00000378958:T117A;ENSP00000378962:T117A;ENSP00000378960:T117A	ENSP00000346940:T117A	T	-	1	0	RABL2B	49555259	0.825000	0.29262	0.007000	0.13788	0.033000	0.12548	0.870000	0.28010	-0.604000	0.05760	-0.467000	0.05162	ACA		0.498	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316606.1	NM_001003789		30	315	0	0	0	1	0	30	315				
CHMP7	91782	broad.mit.edu	37	8	23117774	23117774	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117774A>G	ENST00000397677.1	+	10	1886	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	413					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.P412fs*4(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCGTGCCTAACCCTAGGATC	0.488																																						ENST00000397677.1																			1	Deletion - Frameshift(1)	p.P412fs*4(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1237-1239)aAc>aGc		charged multivesicular body protein 7							132.0	121.0	125.0					8																	23117774		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23117774A>G	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1238A>G	8.37:g.23117774A>G	ENSP00000380794:p.Asn413Ser					CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S|CHMP7_ENST00000520102.1_3'UTR	p.N413S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	10	1886	+		Prostate(55;0.0513)	413					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.1238A>G	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	A	4.748	0.139071	0.09083	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57107	0.42;0.42	5.44	-4.02	0.04034	.	1.434510	0.03399	N	0.203130	T	0.28101	0.0693	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.10064	-1.0646	10	0.10636	T	0.68	0.9774	3.5144	0.07719	0.3287:0.0:0.2761:0.3953	.	413	Q8WUX9	CHMP7_HUMAN	S	413	ENSP00000380794:N413S;ENSP00000324491:N413S	ENSP00000324491:N413S	N	+	2	0	CHMP7	23173719	0.019000	0.18553	0.839000	0.33178	0.990000	0.78478	0.070000	0.14573	-0.576000	0.05974	0.529000	0.55759	AAC		0.488	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		122	510	0	0	0	1	0	122	510				
FZD10	11211	broad.mit.edu	37	12	130647687	130647687	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130647687A>G	ENST00000229030.4	+	1	684	c.200A>G	c.(199-201)cAg>cGg	p.Q67R	FZD10_ENST00000539839.1_Silent_p.P34P|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	67	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCAGCCATCCAGTTGCACGAG	0.627																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(199-201)cAg>cGg		frizzled family receptor 10							45.0	43.0	43.0					12																	130647687		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647687A>G	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.200A>G	12.37:g.130647687A>G	ENSP00000229030:p.Gln67Arg					FZD10_ENST00000539839.1_Silent_p.P34P	p.Q67R			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	684	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		67			FZ.			Missense_Mutation	SNP	ENST00000229030.4	37	c.200A>G	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220771	0.39201	.	.	ENSG00000111432	ENST00000229030	T	0.75938	-0.98	4.4	4.4	0.53042	Frizzled domain (5);	0.068546	0.64402	U	0.000019	T	0.64023	0.2561	L	0.31526	0.94	0.52099	D	0.999948	B	0.11235	0.004	B	0.16289	0.015	T	0.62134	-0.6918	10	0.52906	T	0.07	.	13.6359	0.62223	1.0:0.0:0.0:0.0	.	67	Q9ULW2	FZD10_HUMAN	R	67	ENSP00000229030:Q67R	ENSP00000229030:Q67R	Q	+	2	0	FZD10	129213640	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	6.993000	0.76245	1.613000	0.50231	0.459000	0.35465	CAG		0.627	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				83	284	0	0	0	1	0	83	284				
HSPA5	3309	broad.mit.edu	37	9	128000926	128000926	+	Missense_Mutation	SNP	C	C	T	rs200526775		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128000926C>T	ENST00000324460.6	-	6	1380	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	393					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TACGCTACAGCTTCATCTGGG	0.473										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1177-1179)Gct>Act		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						113.0	95.0	101.0					9																	128000926		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128000926C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1177G>A	9.37:g.128000926C>T	ENSP00000324173:p.Ala393Thr	Prostate(1;0.17)					p.A393T	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			6	1380	-			393					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1177G>A	CCDS6863.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	32	5.158521	0.94686	.	.	ENSG00000044574	ENST00000324460	T	0.01313	5.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35450	-0.9788	10	0.87932	D	0	-2.8727	16.4549	0.84009	0.0:1.0:0.0:0.0	.	393	P11021	GRP78_HUMAN	T	393	ENSP00000324173:A393T	ENSP00000324173:A393T	A	-	1	0	HSPA5	127040747	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.097000	0.63578	0.563000	0.77884	GCT		0.473	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			64	370	0	0	0	1	0	64	370				
SNAP47	116841	broad.mit.edu	37	1	227954674	227954674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227954674G>A	ENST00000366759.4	+	4	1552	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S|SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	380					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGGCTGATGGGCCGTACCCT	0.607																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1138-1140)Ggc>Agc		synaptosomal-associated protein, 47kDa							69.0	60.0	63.0					1																	227954674		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227954674G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1138G>A	1.37:g.227954674G>A	ENSP00000355721:p.Gly380Ser					SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S|SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S	p.G380S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			4	1552	+			380					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.1138G>A	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.151|4.151	0.026409|0.026409	0.08054|0.08054	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000418653;ENST00000426344|ENST00000366760;ENST00000366759;ENST00000315781	.|T;T;T	.|0.43294	.|0.95;2.27;2.25	4.52|4.52	3.57|3.57	0.40892|0.40892	.|.	0.400770|0.400770	0.25040|0.25040	N|N	0.033613|0.033613	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;P	.|0.36535	.|0.301;0.408;0.301;0.557	.|B;B;B;B	.|0.31191	.|0.117;0.077;0.117;0.125	T|T	0.13575|0.13575	-1.0504|-1.0504	6|10	.|0.29301	.|T	.|0.29	-16.4939|-16.4939	9.3542|9.3542	0.38157|0.38157	0.0:0.0:0.7865:0.2135|0.0:0.0:0.7865:0.2135	.|.	.|380;192;380;138	.|Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4	.|SNP47_HUMAN;.;.;.	E|S	192;371|138;380;380	.|ENSP00000355722:G138S;ENSP00000355721:G380S;ENSP00000314157:G380S	.|ENSP00000314157:G380S	G|G	+|+	2|1	0|0	SNAP47|SNAP47	226021297|226021297	0.995000|0.995000	0.38212|0.38212	0.222000|0.222000	0.23844|0.23844	0.263000|0.263000	0.26337|0.26337	3.928000|3.928000	0.56506|0.56506	1.057000|1.057000	0.40506|0.40506	0.555000|0.555000	0.69702|0.69702	GGG|GGC		0.607	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		63	187	0	0	0	1	0	63	187				
ZC3H10	84872	broad.mit.edu	37	12	56515509	56515509	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56515509C>A	ENST00000257940.2	+	3	1439	c.1163C>A	c.(1162-1164)gCt>gAt	p.A388D	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	388	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCCTGTGGCTGTATCTGTG	0.592																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(1162-1164)gCt>gAt		zinc finger CCCH-type containing 10							124.0	97.0	106.0					12																	56515509		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56515509C>A	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1163C>A	12.37:g.56515509C>A	ENSP00000257940:p.Ala388Asp					RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	p.A388D	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1439	+			388			Pro-rich.			Missense_Mutation	SNP	ENST00000257940.2	37	c.1163C>A	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986954	0.53934	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.63	4.75	0.60458	.	0.131035	0.49305	D	0.000153	T	0.38665	0.1049	N	0.19112	0.55	0.80722	D	1	P	0.44627	0.839	B	0.37346	0.247	T	0.44952	-0.9294	9	0.72032	D	0.01	-10.0065	16.0428	0.80695	0.0:0.8651:0.1349:0.0	.	388	Q96K80	ZC3HA_HUMAN	D	388	.	ENSP00000257940:A388D	A	+	2	0	ZC3H10	54801776	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.510000	0.67018	1.540000	0.49301	-0.127000	0.14921	GCT		0.592	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		32	192	1	0	9.65021e-13	1	1.03847e-12	32	192				
PLEKHH2	130271	broad.mit.edu	37	2	43965632	43965632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43965632G>A	ENST00000282406.4	+	20	3206	c.3096G>A	c.(3094-3096)caG>caA	p.Q1032Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1032	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGAAGACAGCCACAGAATC	0.363																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3094-3096)caG>caA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							80.0	84.0	83.0					2																	43965632		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43965632G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3096G>A	2.37:g.43965632G>A							p.Q1032Q	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			20	3206	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1032			MyTH4.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.3096G>A	CCDS1812.1																																																																																				0.363	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		131	333	0	0	0	1	0	131	333				
KDELR3	11015	broad.mit.edu	37	22	38877488	38877488	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38877488G>T	ENST00000216014.4	+	4	776				KDELR3_ENST00000409006.3_Missense_Mutation_p.S208I|KDELR3_ENST00000471268.1_Intron	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGGGATGACAGCAATGCTGAC	0.433																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000409006.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(622-624)aGc>aTc		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3							118.0	108.0	111.0					22																	38877488		2203	4300	6503	SO:0001627	intron_variant	0				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	g.chr22:38877488G>T	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.604+19G>T	22.37:g.38877488G>T						KDELR3_ENST00000216014.4_Intron|KDELR3_ENST00000471268.1_Intron	p.S208I	NM_016657.1	NP_057839.1	O43731	ERD23_HUMAN			4	779	+	Melanoma(58;0.0286)		0					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.623G>T	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	7.639	0.680392	0.14907	.	.	ENSG00000100196	ENST00000409006	T	0.46819	0.86	2.55	1.45	0.22620	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.19516	-1.0303	7	.	.	.	.	6.145	0.20280	0.3912:0.0:0.6087:0.0	.	208	O43731-2	.	I	208	ENSP00000386918:S208I	.	S	+	2	0	KDELR3	37207434	0.368000	0.25031	0.006000	0.13384	0.031000	0.12232	1.862000	0.39448	0.578000	0.29487	0.585000	0.79938	AGC		0.433	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			78	338	1	0	3.3814e-41	1	4.10641e-41	78	338				
GALNT13	114805	broad.mit.edu	37	2	154996996	154996996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:154996996C>T	ENST00000392825.3	+	4	856	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	GALNT13_ENST00000409237.1_Silent_p.L97L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	97					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAATAGAAGTCTGCCAGATGT	0.333																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(289-291)Ctg>Ttg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							93.0	94.0	93.0					2																	154996996		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:154996996C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.289C>T	2.37:g.154996996C>T						GALNT13_ENST00000409237.1_Silent_p.L97L	p.L97L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			4	856	+			97					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.289C>T	CCDS2199.1																																																																																				0.333	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		45	274	0	0	0	1	0	45	274				
OR2D2	120776	broad.mit.edu	37	11	6913214	6913214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913214C>T	ENST00000299459.2	-	1	616	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGAGCAATGCTGTTACTGCC	0.498																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(517-519)aGc>aAc		olfactory receptor, family 2, subfamily D, member 2							106.0	86.0	93.0					11																	6913214		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913214C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.518G>A	11.37:g.6913214C>T	ENSP00000299459:p.Ser173Asn						p.S173N	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	616	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	173					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.518G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	0.987	-0.695286	0.03303	.	.	ENSG00000166368	ENST00000299459	T	0.00107	8.72	5.12	-8.63	0.00878	GPCR, rhodopsin-like superfamily (1);	0.510233	0.18384	N	0.142866	T	0.00073	0.0002	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.47407	-0.9120	10	0.25751	T	0.34	-1.6953	0.3389	0.00330	0.2455:0.2205:0.1771:0.3569	.	173	Q9H210	OR2D2_HUMAN	N	173	ENSP00000299459:S173N	ENSP00000299459:S173N	S	-	2	0	OR2D2	6869790	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-2.039000	0.01418	-2.057000	0.00897	-1.792000	0.00626	AGC		0.498	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		51	217	0	0	0	1	0	51	217				
TSC22D1	8848	broad.mit.edu	37	13	45149075	45149075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45149075C>T	ENST00000458659.2	-	1	1626	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	379					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGGAACACTGCTAACAGCAGC	0.483																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1135-1137)aGc>aAc		TSC22 domain family, member 1							107.0	93.0	98.0					13																	45149075		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149075C>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1136G>A	13.37:g.45149075C>T	ENSP00000397435:p.Ser379Asn					TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N	p.S379N	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1626	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	379					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1136G>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.558873	0.00009	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.29917	1.55	4.61	-1.12	0.09808	.	0.285367	0.30269	N	0.010014	T	0.08313	0.0207	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	10	0.06099	T	0.92	.	7.3014	0.26422	0.0:0.153:0.1233:0.7237	.	379;379	B3KRL7;Q15714	.;T22D1_HUMAN	N	379	ENSP00000397435:S379N	ENSP00000397435:S379N	S	-	2	0	TSC22D1	44047075	0.975000	0.34042	0.309000	0.25155	0.021000	0.10359	0.637000	0.24659	-0.014000	0.14175	-1.421000	0.01109	AGC		0.483	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		64	264	0	0	0	1	0	64	264				
ZIC4	84107	broad.mit.edu	37	3	147108909	147108909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108909G>A	ENST00000383075.3	-	4	1325	c.813C>T	c.(811-813)tgC>tgT	p.C271C	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000491672.1_Silent_p.C65C|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000525172.2_Silent_p.C321C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCACTTGTCGCAGCCCCGCA	0.642																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(811-813)tgC>tgT		Zic family member 4							41.0	47.0	45.0					3																	147108909		2203	4300	6503	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108909G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.813C>T	3.37:g.147108909G>A						ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000525172.2_Silent_p.C321C|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000491672.1_Silent_p.C65C	p.C271C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1325	-			271					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.813C>T	CCDS43160.1																																																																																				0.642	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			52	208	0	0	0	1	0	52	208				
TAF15	8148	broad.mit.edu	37	17	34171925	34171925	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171925A>G	ENST00000588240.1	+	15	1737	c.1622A>G	c.(1621-1623)tAc>tGc	p.Y541C	TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C|TAF15_ENST00000592237.1_Missense_Mutation_p.T346A	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGCAGTGGCTACGGTGGAGAC	0.622			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1621-1623)tAc>tGc		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							72.0	84.0	80.0					17																	34171925		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171925A>G	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1622A>G	17.37:g.34171925A>G	ENSP00000466950:p.Tyr541Cys					TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C|TAF15_ENST00000592237.1_Missense_Mutation_p.T346A	p.Y541C	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1737	+		Ovarian(249;0.17)	541			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1622A>G	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466511	0.26335	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.84	-0.218	0.13142	.	.	.	.	.	T	0.28532	0.0706	L	0.29908	0.895	0.09310	N	0.999999	P;P	0.44816	0.758;0.844	B;P	0.46479	0.319;0.518	T	0.17198	-1.0377	8	0.87932	D	0	0.1347	4.7692	0.13148	0.2856:0.0:0.526:0.1884	.	541;538	Q92804;Q92804-2	RBP56_HUMAN;.	C	541;344	.	ENSP00000309558:Y541C	Y	+	2	0	TAF15	31196038	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	0.653000	0.24902	0.048000	0.15891	0.482000	0.46254	TAC		0.622	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		99	428	0	0	0	1	0	99	428				
CCDC167	154467	broad.mit.edu	37	6	37452903	37452903	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37452903T>C	ENST00000373408.3	-	2	168	c.110A>G	c.(109-111)cAc>cGc	p.H37R		NM_138493.2	NP_612502.1	Q9P0B6	CC167_HUMAN	coiled-coil domain containing 167	37						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						CTCCCGGCTGTGGAGTCTGGA	0.637																																						ENST00000373408.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(109-111)cAc>cGc		coiled-coil domain containing 167							47.0	46.0	47.0					6																	37452903		2203	4300	6503	SO:0001583	missense	154467					integral to membrane		g.chr6:37452903T>C		CCDS34441.1	6p21.2	2011-07-04	2011-07-04	2011-07-04	ENSG00000198937	ENSG00000198937			21239	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 129"""	C6orf129			Standard	NM_138493		Approved	dJ153P14.2	uc003ont.3	Q9P0B6	OTTHUMG00000014625	ENST00000373408.3:c.110A>G	6.37:g.37452903T>C	ENSP00000362507:p.His37Arg						p.H37R	NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN			2	168	-			37					Q5T7F7|Q9BTQ9	Missense_Mutation	SNP	ENST00000373408.3	37	c.110A>G	CCDS34441.1	.	.	.	.	.	.	.	.	.	.	T	0.444	-0.897061	0.02472	.	.	ENSG00000198937	ENST00000373408;ENST00000373405;ENST00000411755	.	.	.	5.77	0.429	0.16506	.	0.869682	0.10140	N	0.711001	T	0.03827	0.0108	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44907	-0.9297	8	0.02654	T	1	3.3212	7.9473	0.29993	0.0:0.5615:0.0:0.4385	.	37	Q9P0B6	CC167_HUMAN	R	37	.	ENSP00000362504:H37R	H	-	2	0	CCDC167	37560881	0.000000	0.05858	0.000000	0.03702	0.632000	0.37999	-0.033000	0.12246	0.089000	0.17243	0.459000	0.35465	CAC		0.637	CCDC167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040417.1	NM_138493		43	284	0	0	0	1	0	43	284				
RHOA	387	broad.mit.edu	37	3	49394894	49394894	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49394894C>T	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Missense_Mutation_p.S180N|GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419349.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGCGGCGGCTGTACCTGCG	0.627																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(538-540)aGc>aAc		glutathione peroxidase 1	Glutathione(DB00143)						22.0	24.0	23.0					3																	49394894		1859	4053	5912	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49394894C>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49394894C>T						GPX1_ENST00000419349.1_3'UTR	p.S180N	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	860	-			180					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.539G>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972515	0.74246	.	.	ENSG00000233276	ENST00000419783	T	0.03982	3.74	5.4	5.4	0.78164	Thioredoxin-like fold (2);	0.046319	0.85682	D	0.000000	T	0.11750	0.0286	M	0.75085	2.285	0.80722	D	1	P	0.43352	0.804	B	0.43950	0.437	T	0.05801	-1.0863	10	0.30078	T	0.28	.	17.761	0.88464	0.0:1.0:0.0:0.0	.	180	P07203	GPX1_HUMAN	N	180	ENSP00000407375:S180N	ENSP00000407375:S180N	S	-	2	0	GPX1	49369898	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.792000	0.85828	2.532000	0.85374	0.561000	0.74099	AGC		0.627	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		7	278	0	0	0	1	0	7	278				
ASAP1	50807	broad.mit.edu	37	8	131146542	131146542	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131146542G>A	ENST00000518721.1	-	15	1444	c.1217C>T	c.(1216-1218)gCa>gTa	p.A406V	ASAP1_ENST00000357668.1_Splice_Site_p.A406V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	406	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTACTTACGCTACATAATC	0.328																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.e14+1		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							164.0	147.0	153.0					8																	131146542		2203	4300	6503	SO:0001630	splice_region_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131146542G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1217+1C>T	8.37:g.131146542G>A						ASAP1_ENST00000518721.1_Splice_Site_p.A406_splice	p.A406_splice			Q9ULH1	ASAP1_HUMAN			14	1244	-			406			PH.		B2RNV3	Splice_Site	SNP	ENST00000518721.1	37	c.1217_splice	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180911	0.21787	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.76578	-1.03;-1.03	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.105801	0.64402	D	0.000005	T	0.69504	0.3118	L	0.43646	1.37	0.80722	D	1	B;B;P	0.37061	0.428;0.428;0.58	B;B;B	0.26770	0.051;0.051;0.073	T	0.67894	-0.5552	9	.	.	.	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	406;406;409	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	V	409;406;406	ENSP00000350297:A406V;ENSP00000429900:A406V	.	A	-	2	0	ASAP1	131215724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.709000	0.74665	2.811000	0.96726	0.655000	0.94253	GCA		0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	Missense_Mutation	46	173	0	0	0	1	0	46	173				
DQX1	165545	broad.mit.edu	37	2	74749838	74749838	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74749838T>C	ENST00000404568.3	-	8	1583	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G	DQX1_ENST00000393951.2_Missense_Mutation_p.D455G|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	455						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAGGTCCCCATCATCATCCAG	0.527																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1363-1365)gAt>gGt		DEAQ box RNA-dependent ATPase 1							199.0	194.0	196.0					2																	74749838		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74749838T>C	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1364A>G	2.37:g.74749838T>C	ENSP00000384621:p.Asp455Gly					DQX1_ENST00000393951.2_Missense_Mutation_p.D455G	p.D455G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			8	1583	-			455					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1364A>G	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530676	0.64860	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.32023	1.47;1.47	4.57	4.57	0.56435	Helicase-associated domain (2);	0.000000	0.64402	D	0.000001	T	0.42245	0.1194	M	0.77712	2.385	0.45704	D	0.998615	P	0.40360	0.714	P	0.45195	0.473	T	0.47661	-0.9100	10	0.72032	D	0.01	-13.8644	11.9275	0.52827	0.0:0.0:0.0:1.0	.	455	Q8TE96	DQX1_HUMAN	G	455	ENSP00000377523:D455G;ENSP00000384621:D455G	ENSP00000377523:D455G	D	-	2	0	DQX1	74603346	0.999000	0.42202	0.294000	0.24946	0.973000	0.67179	6.075000	0.71261	1.925000	0.55765	0.454000	0.30748	GAT		0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		64	1425	0	0	0	1	0	64	1425				
LTB4R2	56413	broad.mit.edu	37	14	24780826	24780826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24780826G>A	ENST00000528054.1	+	1	2666	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000555817.1_5'Flank|CIDEB_ENST00000258807.5_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|CIDEB_ENST00000336557.5_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	350					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGGCGGCCGCTCTAGGGAA	0.677																																						ENST00000528054.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(1048-1050)cGc>cAc		leukotriene B4 receptor 2							33.0	43.0	40.0					14																	24780826		2194	4289	6483	SO:0001583	missense	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780826G>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1049G>A	14.37:g.24780826G>A	ENSP00000432146:p.Arg350His					LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H	p.R350H			Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2666	+			350					Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37	c.1049G>A		.	.	.	.	.	.	.	.	.	.	G	18.98	3.738029	0.69304	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.36	4.81	3.91	0.45181	.	0.431407	0.21050	U	0.081007	T	0.48554	0.1506	N	0.24115	0.695	0.80722	D	1	B	0.24258	0.1	B	0.14023	0.01	T	0.43130	-0.9410	10	0.48119	T	0.1	.	7.7868	0.29097	0.1924:0.0:0.8076:0.0	.	350	Q9NPC1	LT4R2_HUMAN	H	350;319;319;319	ENSP00000432146:R350H;ENSP00000433290:R319H;ENSP00000445772:R319H;ENSP00000434760:R319H	ENSP00000337731:R350H	R	+	2	0	LTB4R2	23850666	0.074000	0.21230	0.995000	0.50966	0.972000	0.66771	0.866000	0.27954	1.015000	0.39444	0.591000	0.81541	CGC		0.677	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			129	390	0	0	0	1	0	129	390				
TRAK1	22906	broad.mit.edu	37	3	42234671	42234671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42234671G>A	ENST00000327628.5	+	8	1274	c.874G>A	c.(874-876)Gtt>Att	p.V292I	TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I|TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I|TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	292	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGCAAATAGTTGATTTGCA	0.478																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(874-876)Gtt>Att		trafficking protein, kinesin binding 1							110.0	105.0	106.0					3																	42234671		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42234671G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.874G>A	3.37:g.42234671G>A	ENSP00000328998:p.Val292Ile					TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I	p.V292I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			8	1274	+			292			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.874G>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372768	0.82573	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.47078	0.1426	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.998;0.998;0.996;0.972;1.0	D;D;D;D;P;D	0.83275	0.994;0.996;0.996;0.99;0.899;0.984	T	0.26985	-1.0087	10	0.59425	D	0.04	.	19.2263	0.93819	0.0:0.0:1.0:0.0	.	218;234;292;234;218;292	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	I	292;292;218;234;234;35	ENSP00000328998:V292I;ENSP00000410717:V218I;ENSP00000379478:V234I;ENSP00000340702:V234I;ENSP00000413729:V35I	ENSP00000328998:V292I	V	+	1	0	TRAK1	42209675	1.000000	0.71417	0.116000	0.21606	0.491000	0.33493	9.799000	0.99117	2.779000	0.95612	0.637000	0.83480	GTT		0.478	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		82	305	0	0	0	1	0	82	305				
CD55	1604	broad.mit.edu	37	1	207497997	207497997	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207497997A>G	ENST00000367064.3	+	3	638	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000314754.8_Missense_Mutation_p.Y127C|CD55_ENST00000367067.4_Intron|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000391921.4_Intron	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	127	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GTTGTGGAATATGAGTGCCGT	0.413																																						ENST00000367064.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(379-381)tAt>tGt		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						110.0	107.0	108.0					1																	207497997		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207497997A>G	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.380A>G	1.37:g.207497997A>G	ENSP00000356031:p.Tyr127Cys					CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000314754.8_Missense_Mutation_p.Y127C|CD55_ENST00000367067.4_Intron|CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000391921.4_Intron	p.Y127C	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN			3	638	+			127			Sushi 2.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.380A>G	CCDS31006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.158731|2.158731	0.38119|0.38119	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	.|T;T;T;T;T;T	.|0.71934	.|-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	6.16|6.16	5.02|5.02	0.67125|0.67125	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.151856	.|0.45867	.|D	.|0.000328	D|D	0.87822|0.87822	0.6274|0.6274	H|H	0.95187|0.95187	3.635|3.635	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;1.0;0.999;1.0	D|D	0.89768|0.89768	0.3952|0.3952	5|10	.|0.87932	.|D	.|0	.|.	11.262|11.262	0.49089|0.49089	0.8634:0.0:0.0:0.1366|0.8634:0.0:0.0:0.1366	.|.	.|127;127;127;127	.|Q14UF4;P08174-2;P08174;B1AP13	.|.;.;DAF_HUMAN;.	V|C	137|127	.|ENSP00000356031:Y127C;ENSP00000356030:Y127C;ENSP00000316333:Y127C;ENSP00000356032:Y127C;ENSP00000375787:Y127C;ENSP00000356029:Y127C	.|ENSP00000316333:Y127C	M|Y	+|+	1|2	0|0	CD55|CD55	205564620|205564620	0.982000|0.982000	0.34865|0.34865	0.678000|0.678000	0.29963|0.29963	0.017000|0.017000	0.09413|0.09413	2.438000|2.438000	0.44837|0.44837	1.114000|1.114000	0.41781|0.41781	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.413	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		93	355	0	0	0	1	0	93	355				
ATP6V1B2	526	broad.mit.edu	37	8	20072363	20072363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20072363G>A	ENST00000276390.2	+	10	1002	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	321					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CCTGGTCGACGAGGTTTTCCA	0.463																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(961-963)cGa>cAa		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							136.0	120.0	125.0					8																	20072363		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20072363G>A	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.962G>A	8.37:g.20072363G>A	ENSP00000276390:p.Arg321Gln						p.R321Q	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	10	1002	+			321					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.962G>A	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	G	37	6.027307	0.97216	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.77620	-1.11	5.3	5.3	0.74995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.89658	3.05	0.80722	D	1	D	0.59767	0.986	B	0.43194	0.411	D	0.88191	0.2877	10	0.87932	D	0	-14.2941	17.8874	0.88861	0.0:0.0:1.0:0.0	.	321	P21281	VATB2_HUMAN	Q	321;195	ENSP00000276390:R321Q	ENSP00000276390:R321Q	R	+	2	0	ATP6V1B2	20116643	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	CGA		0.463	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		58	229	0	0	0	1	0	58	229				
CDC73	79577	broad.mit.edu	37	1	193117091	193117091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193117091C>T	ENST00000367435.3	+	8	1008	c.824C>T	c.(823-825)cCt>cTt	p.P275L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	275	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AATGCAGCACCTGTGGTAAGA	0.383																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(823-825)cCt>cTt		cell division cycle 73							52.0	45.0	48.0					1																	193117091		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193117091C>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.824C>T	1.37:g.193117091C>T	ENSP00000356405:p.Pro275Leu						p.P275L	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			8	1008	+			275					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.824C>T	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333084	0.60853	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.63744	-0.06	5.66	5.66	0.87406	.	0.058977	0.64402	D	0.000001	T	0.66799	0.2826	M	0.79123	2.44	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63506	-0.6622	10	0.46703	T	0.11	-15.6887	19.3509	0.94384	0.0:1.0:0.0:0.0	.	275	Q6P1J9	CDC73_HUMAN	L	275	ENSP00000356405:P275L	ENSP00000356405:P275L	P	+	2	0	CDC73	191383714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.170000	0.58229	2.656000	0.90262	0.655000	0.94253	CCT		0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		37	112	0	0	0	1	0	37	112				
LGR6	59352	broad.mit.edu	37	1	202279366	202279366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202279366G>T	ENST00000367278.3	+	16	1537	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	LGR6_ENST00000439764.2_Missense_Mutation_p.G344V|LGR6_ENST00000255432.7_Missense_Mutation_p.G431V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	483					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGTCCCTATGGGATGTGTGCC	0.572																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1447-1449)gGg>gTg		leucine-rich repeat containing G protein-coupled receptor 6							159.0	142.0	148.0					1																	202279366		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202279366G>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1448G>T	1.37:g.202279366G>T	ENSP00000356247:p.Gly483Val					LGR6_ENST00000255432.7_Missense_Mutation_p.G431V|LGR6_ENST00000439764.2_Missense_Mutation_p.G344V	p.G483V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			16	1537	+			483					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.1448G>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862951	0.32884	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.60548	0.18;0.6;1.87	5.71	5.71	0.89125	.	0.167430	0.52532	D	0.000063	T	0.66733	0.2819	L	0.46614	1.455	0.58432	D	0.99999	D;B;P	0.58268	0.982;0.046;0.857	P;B;P	0.61800	0.894;0.037;0.517	T	0.62234	-0.6897	10	0.32370	T	0.25	.	15.3359	0.74255	0.0:0.1392:0.8608:0.0	.	344;431;483	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	V	483;431;344	ENSP00000356247:G483V;ENSP00000255432:G431V;ENSP00000387869:G344V	ENSP00000255432:G431V	G	+	2	0	LGR6	200545989	1.000000	0.71417	0.320000	0.25306	0.802000	0.45316	6.026000	0.70873	2.679000	0.91253	0.655000	0.94253	GGG		0.572	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		10	678	1	0	0.000673444	1	0.000681208	10	678				
KCNJ14	3770	broad.mit.edu	37	19	48965230	48965230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965230C>T	ENST00000391884.1	+	1	725	c.249C>T	c.(247-249)gaC>gaT	p.D83D	KCNJ14_ENST00000342291.2_Silent_p.D83D			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	83					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CATGCGTGGACGTGCGCTGGC	0.642																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(247-249)gaC>gaT		potassium inwardly-rectifying channel, subfamily J, member 14							75.0	42.0	53.0					19																	48965230		2203	4300	6503	SO:0001819	synonymous_variant	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965230C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.249C>T	19.37:g.48965230C>T						KCNJ14_ENST00000342291.2_Silent_p.D83D	p.D83D			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	725	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	83						Silent	SNP	ENST00000391884.1	37	c.249C>T	CCDS12721.1																																																																																				0.642	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		29	117	0	0	0	1	0	29	117				
RARS2	57038	broad.mit.edu	37	6	88229394	88229394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88229394C>A	ENST00000369536.5	-	14	1189	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	382					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTCTTCATTCCCTGTACTACT	0.403																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1144-1146)Gga>Tga		arginyl-tRNA synthetase 2, mitochondrial							104.0	98.0	100.0					6																	88229394		2203	4300	6503	SO:0001587	stop_gained	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88229394C>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1144G>T	6.37:g.88229394C>A	ENSP00000358549:p.Gly382*						p.G382*	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	14	1189	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	382					B2RDT7|Q96FU5|Q9H8K8	Nonsense_Mutation	SNP	ENST00000369536.5	37	c.1144G>T	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	38	7.079834	0.98048	.	.	ENSG00000146282	ENST00000369536	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000358549:G382X	G	-	1	0	RARS2	88286113	1.000000	0.71417	0.982000	0.44146	0.961000	0.63080	7.158000	0.77470	2.833000	0.97629	0.585000	0.79938	GGA		0.403	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		53	264	1	0	4.1673e-28	1	4.84001e-28	53	264				
TIAM2	26230	broad.mit.edu	37	6	155572061	155572061	+	Silent	SNP	G	G	A	rs145496334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155572061G>A	ENST00000461783.3	+	24	5239	c.3966G>A	c.(3964-3966)tcG>tcA	p.S1322S	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000529824.2_Silent_p.S1351S|TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000318981.5_Silent_p.S1322S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000360366.4_Silent_p.S1346S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1322					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGAACTTTCGATGGGAGAGC	0.418																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3964-3966)tcG>tcA		T-cell lymphoma invasion and metastasis 2		G	,	1,4405	2.1+/-5.4	0,1,2202	164.0	156.0	158.0		741,3966	-10.6	0.7	6	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TIAM2	NM_001010927.2,NM_012454.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	247/627,1322/1702	155572061	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155572061G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3966G>A	6.37:g.155572061G>A						TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000529824.2_Silent_p.S1351S|TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000360366.4_Silent_p.S1346S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000318981.5_Silent_p.S1322S	p.S1322S			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	24	5239	+		Ovarian(120;0.196)	1322					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.3966G>A	CCDS34558.1																																																																																				0.418	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		113	496	0	0	0	1	0	113	496				
PLEKHA7	144100	broad.mit.edu	37	11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16823313G>A	ENST00000355661.3	-	16	2219	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	737					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCTGGTCTCGGTACTGCTCC	0.557																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2209-2211)Cga>Tga		pleckstrin homology domain containing, family A member 7							114.0	104.0	107.0					11																	16823313		2200	4294	6494	SO:0001587	stop_gained	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16823313G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2209C>T	11.37:g.16823313G>A	ENSP00000347883:p.Arg737*					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*	p.R737*			Q6IQ23	PKHA7_HUMAN			16	2219	-			737					B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	37	c.2209C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682262	0.98431	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581	.	.	.	5.88	3.84	0.44239	.	0.164390	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-10.7591	13.1816	0.59657	0.0:0.0:0.5978:0.4022	.	.	.	.	X	737;737;737;68	.	ENSP00000347883:R737X	R	-	1	2	PLEKHA7	16779889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.648000	0.46647	0.753000	0.32945	0.555000	0.69702	CGA		0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		64	267	0	0	0	1	0	64	267				
VWC2	375567	broad.mit.edu	37	7	49842318	49842318	+	Silent	SNP	C	C	T	rs201624892		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	236	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(706-708)tgC>tgT		von Willebrand factor C domain containing 2		C		0,4406		0,0,2203	235.0	190.0	205.0		708	-2.6	0.9	7		205	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	VWC2	NM_198570.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		236/326	49842318	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842318C>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.708C>T	7.37:g.49842318C>T							p.C236C	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			3	1264	+			236			VWFC 2.		Q6UXE2	Silent	SNP	ENST00000340652.4	37	c.708C>T	CCDS5508.1																																																																																				0.507	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		99	466	0	0	0	1	0	99	466				
RCC1	1104	broad.mit.edu	37	1	28857092	28857092	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28857092G>A	ENST00000373833.6	+	5	358				RCC1_ENST00000373831.3_Missense_Mutation_p.C44Y|RCC1_ENST00000398958.2_Intron|RCC1_ENST00000373832.1_Intron			P18754	RCC1_HUMAN	regulator of chromosome condensation 1						chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGTGCCTGCGGGCCGAGC	0.706																																						ENST00000373831.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(130-132)tGc>tAc		regulator of chromosome condensation 1							11.0	15.0	14.0					1																	28857092		2039	4155	6194	SO:0001627	intron_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28857092G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.73+641G>A	1.37:g.28857092G>A						RCC1_ENST00000373832.1_Intron|RCC1_ENST00000373833.6_Intron|RCC1_ENST00000398958.2_Intron	p.C44Y	NM_001048194.2|NM_001048195.2	NP_001041659.1|NP_001041660.1	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	3	192	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	24					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.131G>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.343900	0.00222	.	.	ENSG00000180198	ENST00000373831	T	0.51817	0.69	3.96	-0.458	0.12182	.	0.459220	0.18704	N	0.133499	T	0.27900	0.0687	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10200	-1.0640	9	0.40728	T	0.16	-2.1516	3.6345	0.08143	0.3744:0.1895:0.4361:0.0	.	44	P18754-2	.	Y	44	ENSP00000362937:C44Y	ENSP00000362937:C44Y	C	+	2	0	RCC1	28729679	0.020000	0.18652	0.011000	0.14972	0.042000	0.13812	-0.033000	0.12246	-0.057000	0.13199	0.609000	0.83330	TGC		0.706	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		15	151	0	0	0	1	0	15	151				
DHX36	170506	broad.mit.edu	37	3	153995419	153995419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153995419G>A	ENST00000496811.1	-	23	2736	c.2656C>T	c.(2656-2658)Ctt>Ttt	p.L886F	DHX36_ENST00000329463.5_Missense_Mutation_p.L872F|DHX36_ENST00000544526.1_Missense_Mutation_p.L872F|DHX36_ENST00000308361.6_Missense_Mutation_p.L857F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	886					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGATAGATAAGCCAGTTGTAG	0.333																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2656-2658)Ctt>Ttt		DEAH (Asp-Glu-Ala-His) box polypeptide 36							90.0	89.0	89.0					3																	153995419		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:153995419G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2656C>T	3.37:g.153995419G>A	ENSP00000417078:p.Leu886Phe					DHX36_ENST00000544526.1_Missense_Mutation_p.L872F|DHX36_ENST00000308361.6_Missense_Mutation_p.L857F|DHX36_ENST00000329463.5_Missense_Mutation_p.L872F	p.L886F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		23	2736	-			886					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2656C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830917	0.91036	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.05199	3.67;3.6;3.49;3.48	5.91	5.03	0.67393	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.72624	2.21	0.58432	D	0.999997	D;D;D	0.56746	0.972;0.972;0.977	P;P;P	0.61722	0.785;0.828;0.893	T	0.00036	-1.2257	10	0.48119	T	0.1	.	15.4806	0.75524	0.0674:0.0:0.9326:0.0	.	872;857;886	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	886;857;872;872	ENSP00000417078:L886F;ENSP00000309296:L857F;ENSP00000444247:L872F;ENSP00000330113:L872F	ENSP00000309296:L857F	L	-	1	0	DHX36	155478113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.271000	0.95698	2.794000	0.96219	0.655000	0.94253	CTT		0.333	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		24	130	0	0	0	1	0	24	130				
ANKRD55	79722	broad.mit.edu	37	5	55407022	55407022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55407022C>T	ENST00000341048.4	-	10	1704	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K|ANKRD55_ENST00000505970.2_5'Flank|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	518										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACTGAGCAATCTGTCCAGCAG	0.468																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(1552-1554)aGa>aAa		ankyrin repeat domain 55							145.0	147.0	146.0					5																	55407022		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407022C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1553G>A	5.37:g.55407022C>T	ENSP00000342295:p.Arg518Lys					ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K|ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K	p.R518K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			10	1704	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	517					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.1553G>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	0.152	-1.090391	0.01873	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.36878	1.46;1.23;1.58	5.63	4.77	0.60923	.	0.201254	0.44285	D	0.000473	T	0.21347	0.0514	N	0.14661	0.345	0.27934	N	0.937774	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.11567	-1.0582	10	0.15952	T	0.53	.	13.1596	0.59537	0.0:0.926:0.0:0.074	.	518;517	B3KVT8;Q3KP44	.;ANR55_HUMAN	K	518;518;475;230	ENSP00000342295:R518K;ENSP00000424230:R475K;ENSP00000429421:R230K	ENSP00000342295:R518K	R	-	2	0	ANKRD55	55442779	0.982000	0.34865	0.896000	0.35187	0.049000	0.14656	2.391000	0.44424	1.527000	0.49086	-0.136000	0.14681	AGA		0.468	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		33	928	0	0	0	1	0	33	928				
ZMYM1	79830	broad.mit.edu	37	1	35580389	35580389	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35580389T>C	ENST00000373330.1	+	11	3132	c.2958T>C	c.(2956-2958)ttT>ttC	p.F986F	ZMYM1_ENST00000359858.4_Silent_p.F986F|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	986						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCGGAGTTTGATTATTGCA	0.244																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2956-2958)ttT>ttC		zinc finger, MYM-type 1							22.0	21.0	22.0					1																	35580389		1790	4044	5834	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580389T>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2958T>C	1.37:g.35580389T>C						ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.F986F	p.F986F			Q5SVZ6	ZMYM1_HUMAN			11	3132	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	986					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.2958T>C	CCDS41302.1																																																																																				0.244	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		11	112	0	0	0	1	0	11	112				
FADS3	3995	broad.mit.edu	37	11	61646013	61646013	+	Missense_Mutation	SNP	C	C	T	rs542548263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61646013C>T	ENST00000278829.2	-	5	870	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	FADS3_ENST00000527697.1_Missense_Mutation_p.V116I|FADS3_ENST00000525588.1_Missense_Mutation_p.V212I|FADS3_ENST00000540820.1_Missense_Mutation_p.V240I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	240					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAGGAAGACGGGCGCCACC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17653	0.0		0.0	False		,,,				2504	0.0					ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(718-720)Gtc>Atc		fatty acid desaturase 3							109.0	104.0	106.0					11																	61646013		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61646013C>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.718G>A	11.37:g.61646013C>T	ENSP00000278829:p.Val240Ile					FADS3_ENST00000527697.1_Missense_Mutation_p.V116I|FADS3_ENST00000525588.1_Missense_Mutation_p.V212I|FADS3_ENST00000278829.2_Missense_Mutation_p.V240I	p.V240I			Q9Y5Q0	FADS3_HUMAN			5	790	-			240					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.718G>A	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	6.370	0.436452	0.12104	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.51	2.62	0.31277	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.28928	0.0718	N	0.16307	0.4	0.32096	N	0.59122	B;B	0.12013	0.0;0.005	B;B	0.15870	0.005;0.014	T	0.26677	-1.0096	9	0.27785	T	0.31	-8.0686	8.2672	0.31821	0.1553:0.7602:0.0:0.0845	.	116;240	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	116;240;240;212;116;116	ENSP00000431533:V116I;ENSP00000278829:V240I;ENSP00000439308:V240I;ENSP00000432206:V212I;ENSP00000436890:V116I;ENSP00000434551:V116I	ENSP00000278829:V240I	V	-	1	0	FADS3	61402589	0.000000	0.05858	0.828000	0.32881	0.090000	0.18270	-2.451000	0.01006	0.453000	0.26858	-0.268000	0.10319	GTC		0.647	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			18	422	0	0	0	1	0	18	422				
EHMT2	10919	broad.mit.edu	37	6	31852264	31852264	+	Silent	SNP	G	G	A	rs147102570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852264G>A	ENST00000375537.4	-	21	2682	c.2676C>T	c.(2674-2676)ccC>ccT	p.P892P	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Silent_p.P915P|EHMT2_ENST00000375530.4_Silent_p.P858P|EHMT2_ENST00000395728.3_Silent_p.P949P|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	892					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGGAGCGCTCGGGAGTCAGGT	0.597																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2845-2847)ccC>ccT		euchromatic histone-lysine N-methyltransferase 2		G	,	1,3021		0,1,1510	152.0	146.0	148.0		2676,2574	-10.3	0.0	6	dbSNP_134	148	0,5418		0,0,2709	no	coding-synonymous,coding-synonymous	EHMT2	NM_006709.3,NM_025256.5	,	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	,	892/1211,858/1177	31852264	1,8439	1511	2709	4220	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852264G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2676C>T	6.37:g.31852264G>A						EHMT2_ENST00000375528.4_Silent_p.P915P|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.P892P|EHMT2_ENST00000375530.4_Silent_p.P858P	p.P949P			Q96KQ7	EHMT2_HUMAN			20	2846	-			892					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.2847C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	0.890	-0.725741	0.03158	3.31E-4	0.0	ENSG00000204371	ENST00000436026	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	.	.	.	.	.	.	0.35661	D	0.812562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19	0.10416	0.1643:0.257:0.4425:0.1362	.	.	.	.	X	223	.	.	R	-	1	2	EHMT2	31960243	0.000000	0.05858	0.024000	0.17045	0.110000	0.19582	-7.061000	0.00045	-4.452000	0.00048	-1.219000	0.01604	CGA		0.597	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		18	836	0	0	0	1	0	18	836				
KIAA1549	57670	broad.mit.edu	37	7	138603632	138603632	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603632C>T	ENST00000422774.1	-	2	788	c.740G>A	c.(739-741)gGc>gAc	p.G247D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G247D			Q9HCM3	K1549_HUMAN	KIAA1549	247						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAAATTCCTGCCAGGAGTTGG	0.512			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(739-741)gGc>gAc		KIAA1549							100.0	102.0	101.0					7																	138603632		2035	4178	6213	SO:0001583	missense	57670					integral to membrane		g.chr7:138603632C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.740G>A	7.37:g.138603632C>T	ENSP00000416040:p.Gly247Asp					KIAA1549_ENST00000422774.1_Missense_Mutation_p.G247D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D	p.G247D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	788	-			247					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.740G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415553	0.62511	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27402	1.67;1.67;1.67	4.89	3.0	0.34707	.	0.691511	0.13271	N	0.400557	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	1	B;B	0.32160	0.244;0.358	B;B	0.30572	0.055;0.117	T	0.12889	-1.0530	10	0.33940	T	0.23	.	12.5247	0.56079	0.0:0.6777:0.3223:0.0	.	247;247	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	247;197;247	ENSP00000406661:G247D;ENSP00000242365:G197D;ENSP00000416040:G247D	ENSP00000242365:G197D	G	-	2	0	KIAA1549	138254172	0.000000	0.05858	0.001000	0.08648	0.936000	0.57629	0.710000	0.25748	0.602000	0.29896	-0.305000	0.09177	GGC		0.512	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			78	333	0	0	0	1	0	78	333				
DNM1P46	196968	broad.mit.edu	37	15	100333050	100333050	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100333050G>T	ENST00000341853.1	-	0	1141				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										ACAGCGTGGAGCACCCAGGCT	0.562																																						ENST00000341853.1																			0																				76.0	67.0	70.0					15																	100333050		876	1990	2866			0							g.chr15:100333050G>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100333050G>T								NR_003260.1						0	1141	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.562	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		71	370	1	0	3.89499e-28	1	4.52561e-28	71	370				
REN	5972	broad.mit.edu	37	1	204128681	204128681	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128681C>T	ENST00000272190.8	-	5	563	c.535G>A	c.(535-537)Gag>Aag	p.E179K	REN_ENST00000367195.2_Missense_Mutation_p.E179K	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	179					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GCGGGCATCTCCGTGACCTCT	0.572																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(535-537)Gag>Aag		renin	Aliskiren(DB01258)|Remikiren(DB00212)						129.0	111.0	117.0					1																	204128681		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204128681C>T	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.535G>A	1.37:g.204128681C>T	ENSP00000272190:p.Glu179Lys					REN_ENST00000272190.8_Missense_Mutation_p.E179K	p.E179K			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	578	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		179					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.535G>A	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	2.060	-0.415519	0.04766	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.55930	0.49;0.49	5.09	3.18	0.36537	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.213206	0.47455	D	0.000227	T	0.28732	0.0712	N	0.20574	0.59	0.09310	N	1	B	0.20164	0.042	B	0.16289	0.015	T	0.21793	-1.0235	10	0.02654	T	1	.	8.9307	0.35668	0.0:0.7785:0.0:0.2215	.	179	P00797	RENI_HUMAN	K	179;98;179	ENSP00000356163:E179K;ENSP00000272190:E179K	ENSP00000272190:E179K	E	-	1	0	REN	202395304	0.215000	0.23574	0.962000	0.40283	0.393000	0.30537	1.124000	0.31320	2.380000	0.81148	0.305000	0.20034	GAG		0.572	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		6	300	0	0	0	1	0	6	300				
ANKRD30B	374860	broad.mit.edu	37	18	14848795	14848795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14848795C>T	ENST00000358984.4	+	34	3085	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	969										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAACTGTGAACAAATTACAGC	0.343																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(2905-2907)Caa>Taa		ankyrin repeat domain 30B							62.0	45.0	50.0					18																	14848795		692	1588	2280	SO:0001587	stop_gained	374860							g.chr18:14848795C>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2905C>T	18.37:g.14848795C>T	ENSP00000351875:p.Gln969*						p.Q969*	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			34	3085	+			1054					B4DGP1|F8WAG3|Q4G175	Nonsense_Mutation	SNP	ENST00000358984.4	37	c.2905C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387873	0.82902	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	.	.	.	1.48	-0.472	0.12115	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5363	0.17013	0.0:0.6482:0.0:0.3518	.	.	.	.	X	969;363;389	.	ENSP00000277669:Q389X	Q	+	1	0	ANKRD30B	14838795	0.014000	0.17966	0.001000	0.08648	0.018000	0.09664	0.339000	0.19875	-0.165000	0.10908	0.173000	0.16961	CAA		0.343	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	45	0	0	0	1	0	5	45				
MED10	84246	broad.mit.edu	37	5	6378502	6378502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6378502C>T	ENST00000255764.3	-	1	205	c.95G>A	c.(94-96)aGc>aAc	p.S32N		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	32					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GGCCTGGCTGCTGGGCTGGAA	0.647																																						ENST00000255764.3																			0				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(94-96)aGc>aAc		mediator complex subunit 10							65.0	57.0	59.0					5																	6378502		2203	4300	6503	SO:0001583	missense	84246				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr5:6378502C>T		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.95G>A	5.37:g.6378502C>T	ENSP00000255764:p.Ser32Asn						p.S32N	NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN			1	205	-			32					C6G491	Missense_Mutation	SNP	ENST00000255764.3	37	c.95G>A	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299068	0.95574	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.11	5.11	0.69529	.	0.035738	0.85682	D	0.000000	T	0.42291	0.1196	L	0.31207	0.915	0.80722	D	1	P	0.47841	0.901	B	0.41374	0.355	T	0.24835	-1.0149	9	0.19147	T	0.46	-17.8345	17.5168	0.87776	0.0:1.0:0.0:0.0	.	32	Q9BTT4	MED10_HUMAN	N	32	.	ENSP00000255764:S32N	S	-	2	0	MED10	6431502	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.867000	0.75511	2.389000	0.81357	0.484000	0.47621	AGC		0.647	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		32	112	0	0	0	1	0	32	112				
CUL1	8454	broad.mit.edu	37	7	148454093	148454093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148454093G>A	ENST00000325222.4	+	4	613	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CUL1_ENST00000602748.1_Missense_Mutation_p.D112N|CUL1_ENST00000409469.1_Missense_Mutation_p.D112N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGATTTGATGGATGAGAGTGT	0.328																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(334-336)Gat>Aat		cullin 1							129.0	132.0	131.0					7																	148454093		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148454093G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.334G>A	7.37:g.148454093G>A	ENSP00000326804:p.Asp112Asn					CUL1_ENST00000409469.1_Missense_Mutation_p.D112N|CUL1_ENST00000602748.1_Missense_Mutation_p.D112N	p.D112N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		4	613	+	Melanoma(164;0.15)		112					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.334G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139977	0.77775	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583	T;T	0.32515	1.45;1.45	4.74	4.74	0.60224	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39514	1.22	0.80722	D	1	P	0.35844	0.524	B	0.42112	0.376	T	0.08994	-1.0695	10	0.36615	T	0.2	-36.0131	18.0881	0.89464	0.0:0.0:1.0:0.0	.	112	Q13616	CUL1_HUMAN	N	112;112;70	ENSP00000387160:D112N;ENSP00000326804:D112N	ENSP00000326804:D112N	D	+	1	0	CUL1	148085026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.514000	0.98013	2.360000	0.80028	0.650000	0.86243	GAT		0.328	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		87	338	0	0	0	1	0	87	338				
TNKS	8658	broad.mit.edu	37	8	9627692	9627692	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9627692C>T	ENST00000310430.6	+	26	3843	c.3817C>T	c.(3817-3819)Cca>Tca	p.P1273S	TNKS_ENST00000518281.1_Missense_Mutation_p.P1036S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1273	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCACGCGCCTCCAGGGCACCA	0.453																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3817-3819)Cca>Tca		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							72.0	66.0	68.0					8																	9627692		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9627692C>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3817C>T	8.37:g.9627692C>T	ENSP00000311579:p.Pro1273Ser					TNKS_ENST00000518281.1_Missense_Mutation_p.P1036S	p.P1273S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	26	3843	+			1273			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3817C>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072626	0.76415	.	.	ENSG00000173273	ENST00000310430;ENST00000518281;ENST00000517770	T;T;T	0.13657	2.57;2.57;2.59	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.29181	-1.0020	10	0.87932	D	0	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	1273	O95271	TNKS1_HUMAN	S	1273;1036;18	ENSP00000311579:P1273S;ENSP00000429890:P1036S;ENSP00000428185:P18S	ENSP00000311579:P1273S	P	+	1	0	TNKS	9665102	1.000000	0.71417	0.948000	0.38648	0.326000	0.28443	7.768000	0.85345	2.595000	0.87683	0.655000	0.94253	CCA		0.453	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		55	242	0	0	0	1	0	55	242				
NBN	4683	broad.mit.edu	37	8	90965920	90965920	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90965920C>A	ENST00000265433.3	-	11	1552		c.e11-1		NBN_ENST00000409330.1_Splice_Site	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin						blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCCCTTTCCCTTAGATTTAA	0.338								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.e11-1	Homologous recombination	nibrin							23.0	20.0	21.0					8																	90965920		2203	4292	6495	SO:0001630	splice_region_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965920C>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1398-1G>T	8.37:g.90965920C>A						NBN_ENST00000409330.1_Splice_Site		NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1552	-								B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Splice_Site	SNP	ENST00000265433.3	37		CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611120	0.66558	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NBN	91035096	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	4.024000	0.57218	2.469000	0.83416	0.650000	0.86243	.		0.338	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	Intron	5	91	1	0	0.014758	1	0.0148251	5	91				
C19orf44	84167	broad.mit.edu	37	19	16623887	16623887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16623887G>A	ENST00000221671.3	+	6	1858	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	568										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACACCCATCGCCAATCATGT	0.572																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(1702-1704)Gcc>Acc		chromosome 19 open reading frame 44							45.0	43.0	44.0					19																	16623887		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16623887G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1702G>A	19.37:g.16623887G>A	ENSP00000221671:p.Ala568Thr					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Intron	p.A568T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			6	1858	+			568					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1702G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.110111	0.77210	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.21	4.16	0.48862	.	0.063724	0.64402	D	0.000011	T	0.78585	0.4306	M	0.80746	2.51	0.40483	D	0.980463	D	0.89917	1.0	D	0.72625	0.978	T	0.82404	-0.0474	9	0.87932	D	0	-19.066	13.2796	0.60207	0.0:0.1588:0.8412:0.0	.	568	Q9H6X5	CS044_HUMAN	T	568	.	ENSP00000221671:A568T	A	+	1	0	C19orf44	16484887	1.000000	0.71417	0.954000	0.39281	0.568000	0.35870	5.985000	0.70556	1.207000	0.43291	0.645000	0.84053	GCC		0.572	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		56	239	0	0	0	1	0	56	239				
MYO18B	84700	broad.mit.edu	37	22	26165028	26165028	+	Missense_Mutation	SNP	C	C	A	rs201697628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26165028C>A	ENST00000407587.2	+	4	1314	c.1145C>A	c.(1144-1146)aCt>aAt	p.T382N	MYO18B_ENST00000335473.7_Missense_Mutation_p.T382N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	382						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGAGCACGACTGGGAAGGCA	0.587																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1144-1146)aCt>aAt		myosin XVIIIB							37.0	41.0	40.0					22																	26165028		2091	4217	6308	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26165028C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1145C>A	22.37:g.26165028C>A	ENSP00000386096:p.Thr382Asn					MYO18B_ENST00000407587.2_Missense_Mutation_p.T382N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N	p.T382N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1395	+			382					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1145C>A		.	.	.	.	.	.	.	.	.	.	C	10.53	1.375684	0.24857	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86562	-2.12;-2.12;-2.14	3.72	2.68	0.31781	.	3.390750	0.01089	N	0.005146	T	0.79058	0.4382	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29037	0.148;0.231;0.231	B;B;B	0.25405	0.027;0.06;0.06	T	0.67428	-0.5673	10	0.45353	T	0.12	.	5.4493	0.16554	0.1972:0.6899:0.0:0.1129	.	382;382;382	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	382	ENSP00000441229:T382N;ENSP00000334563:T382N;ENSP00000386096:T382N	ENSP00000334563:T382N	T	+	2	0	MYO18B	24495028	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	0.839000	0.34971	0.491000	0.48974	ACT		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		19	87	1	0	6.94344e-10	1	7.33246e-10	19	87				
SP1	6667	broad.mit.edu	37	12	53776411	53776411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53776411C>A	ENST00000327443.4	+	3	778	c.680C>A	c.(679-681)gCt>gAt	p.A227D	SP1_ENST00000426431.2_Missense_Mutation_p.A220D	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	227	Transactivation domain A (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCATTGCTGCTATGCCAAAC	0.502																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(658-660)gCt>gAt		Sp1 transcription factor							118.0	104.0	109.0					12																	53776411		2203	4300	6503	SO:0001583	missense	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776411C>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.680C>A	12.37:g.53776411C>A	ENSP00000329357:p.Ala227Asp					SP1_ENST00000327443.4_Missense_Mutation_p.A227D	p.A220D	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	719	+			227			Transactivation domain A (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.659C>A	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313154	0.60414	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08193	3.15;3.12	4.39	4.39	0.52855	.	0.000000	0.56097	D	0.000027	T	0.11452	0.0279	L	0.29908	0.895	0.58432	D	0.999999	P	0.52842	0.956	P	0.50270	0.636	T	0.18335	-1.0340	10	0.29301	T	0.29	.	16.2766	0.82646	0.0:1.0:0.0:0.0	.	227	P08047	SP1_HUMAN	D	227;220	ENSP00000329357:A227D;ENSP00000404263:A220D	ENSP00000329357:A227D	A	+	2	0	SP1	52062678	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.211000	0.42825	2.456000	0.83038	0.467000	0.42956	GCT		0.502	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			67	370	1	0	1.41595e-48	1	1.74838e-48	67	370				
C9orf50	375759	broad.mit.edu	37	9	132375512	132375512	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375512C>A	ENST00000372478.4	-	6	1263	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	354										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AAAGGTAGCCCTGTGTCTTCT	0.632																																						ENST00000372478.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1060-1062)caG>caT		chromosome 9 open reading frame 50							44.0	42.0	43.0					9																	132375512		2202	4297	6499	SO:0001583	missense	375759							g.chr9:132375512C>A	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1062G>T	9.37:g.132375512C>A	ENSP00000361556:p.Gln354His					NTMT1_ENST00000372486.1_Intron	p.Q354H	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN			6	1263	-		Ovarian(14;0.00556)	354					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.1062G>T	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751328	0.31046	.	.	ENSG00000179058	ENST00000372478	T	0.28454	1.61	3.3	0.289	0.15723	.	0.541517	0.13928	N	0.353066	T	0.31136	0.0787	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.61533	0.89	T	0.10683	-1.0619	10	0.59425	D	0.04	-6.1819	3.8989	0.09152	0.4242:0.4545:0.0:0.1213	.	354	Q5SZB4	CI050_HUMAN	H	354	ENSP00000361556:Q354H	ENSP00000361556:Q354H	Q	-	3	2	C9orf50	131415333	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.028000	0.13644	0.065000	0.16485	0.442000	0.29010	CAG		0.632	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		47	262	1	0	2.17126e-26	1	2.5019e-26	47	262				
TTC21A	199223	broad.mit.edu	37	3	39178504	39178504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39178504C>T	ENST00000431162.2	+	24	3365	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Silent_p.N1078N|TTC21A_ENST00000440121.1_Silent_p.N1029N			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1077										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATCCAGACAACGAGGTTGTGG	0.567																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3232-3234)aaC>aaT		tetratricopeptide repeat domain 21A							76.0	81.0	80.0					3																	39178504		2082	4199	6281	SO:0001819	synonymous_variant	199223						binding	g.chr3:39178504C>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3231C>T	3.37:g.39178504C>T						TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Silent_p.N1029N|TTC21A_ENST00000431162.2_Silent_p.N1077N	p.N1078N	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	24	3411	+			1077					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	c.3234C>T	CCDS46800.1																																																																																				0.567	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		29	247	0	0	0	1	0	29	247				
PCDH10	57575	broad.mit.edu	37	4	134071416	134071416	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071416C>A	ENST00000264360.5	+	1	947	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCTGAAGATCTGGGTCTGGA	0.532																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(121-123)Ctg>Atg		protocadherin 10							126.0	121.0	122.0					4																	134071416		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071416C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.121C>A	4.37:g.134071416C>A	ENSP00000264360:p.Leu41Met						p.L41M	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	947	+			41			Cadherin 1.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.121C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640984	0.47153	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.59364	0.27	4.77	3.06	0.35304	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.35436	N	0.003220	T	0.77579	0.4151	M	0.91140	3.18	0.52099	D	0.999947	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.78234	-0.2283	10	0.87932	D	0	.	8.4123	0.32651	0.0:0.7561:0.0:0.2439	.	41;41	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	41	ENSP00000264360:L41M	ENSP00000264360:L41M	L	+	1	2	PCDH10	134290866	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.212000	0.51145	0.617000	0.30160	-0.263000	0.10527	CTG		0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		16	585	1	0	1.99824e-07	1	2.07512e-07	16	585				
HAPLN1	1404	broad.mit.edu	37	5	82937350	82937350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82937350G>A	ENST00000274341.4	-	5	1880	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	344	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ACACCATACAGCTTATGCTTT	0.478																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(1030-1032)Ctg>Ttg		hyaluronan and proteoglycan link protein 1							143.0	153.0	149.0					5																	82937350		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937350G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.1030C>T	5.37:g.82937350G>A							p.L344L	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1880	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	344			Link 2.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.1030C>T	CCDS4061.1																																																																																				0.478	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		148	748	0	0	0	1	0	148	748				
CETN1	1068	broad.mit.edu	37	18	580753	580753	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:580753C>T	ENST00000327228.3	+	1	387	c.345C>T	c.(343-345)gaC>gaT	p.D115D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TCTTTGATGACGATGAGACCG	0.527																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(343-345)gaC>gaT		centrin, EF-hand protein, 1							79.0	84.0	82.0					18																	580753		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580753C>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.345C>T	18.37:g.580753C>T							p.D115D	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	387	+			115			EF-hand 3.		B2R536	Silent	SNP	ENST00000327228.3	37	c.345C>T	CCDS11820.1																																																																																				0.527	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		53	344	0	0	0	1	0	53	344				
BEST1	7439	broad.mit.edu	37	11	61727416	61727416	+	Missense_Mutation	SNP	C	C	T	rs148326372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61727416C>T	ENST00000378043.4	+	9	1644	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	BEST1_ENST00000534553.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L|BEST1_ENST00000449131.2_Missense_Mutation_p.P274L|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|BEST1_ENST00000301774.9_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	334					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGGATGGAGCCGGACATGTAC	0.587																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(820-822)cCg>cTg		bestrophin 1		C	LEU/PRO,LEU/PRO	0,4404		0,0,2202	69.0	59.0	62.0		821,1001	0.8	0.8	11	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BEST1	NM_001139443.1,NM_004183.3	98,98	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	274/605,334/586	61727416	1,13001	2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61727416C>T	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1001C>T	11.37:g.61727416C>T	ENSP00000367282:p.Pro334Leu					FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L|BEST1_ENST00000378043.4_Missense_Mutation_p.P334L|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000435278.2_Intron	p.P274L	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			8	907	+			334					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.821C>T	CCDS31580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.926903|2.926903	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167995|ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000449131|ENST00000526988	D;D;D|D	0.96802|0.99158	-4.13;-3.81;-4.08|-5.5	5.02|5.02	0.81|0.81	0.18732|0.18732	.|.	0.563498|.	0.18960|.	N|.	0.126429|.	D|D	0.95717|0.95717	0.8607|0.8607	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|D;D	0.31227|0.69078	0.314;0.13;0.314|0.997;0.997	B;B;B|P;P	0.21360|0.49637	0.024;0.011;0.034|0.617;0.617	D|D	0.92229|0.92229	0.5791|0.5791	10|9	0.87932|0.66056	D|D	0|0.02	-11.183|-11.183	5.1413|5.1413	0.14961|0.14961	0.4175:0.1753:0.4072:0.0|0.4175:0.1753:0.4072:0.0	.|.	247;334;274|296;342	O76090-4;O76090;O76090-3|B7Z1N8;B7Z336	.;BEST1_HUMAN;.|.;.	L|W	334;247;274|296	ENSP00000367282:P334L;ENSP00000367281:P247L;ENSP00000399709:P274L|ENSP00000433195:R296W	ENSP00000367281:P247L|ENSP00000432681:R402W	P|R	+|+	2|1	0|2	BEST1|BEST1	61483992|61483992	1.000000|1.000000	0.71417|0.71417	0.755000|0.755000	0.31263|0.31263	0.223000|0.223000	0.24884|0.24884	2.021000|2.021000	0.41020|0.41020	0.204000|0.204000	0.20548|0.20548	-0.300000|-0.300000	0.09419|0.09419	CCG|CGG		0.587	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		15	115	0	0	0	1	0	15	115				
PLEKHH2	130271	broad.mit.edu	37	2	43953531	43953531	+	Missense_Mutation	SNP	G	G	A	rs146823531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43953531G>A	ENST00000282406.4	+	17	2772	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	888	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTATACTATCGTTATCCATCC	0.398																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2662-2664)Gtt>Att		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2		G	ILE/VAL	0,4406		0,0,2203	115.0	109.0	111.0		2662	4.7	0.0	2	dbSNP_134	111	2,8598	1.2+/-3.3	0,2,4298	no	missense	PLEKHH2	NM_172069.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	888/1494	43953531	2,13004	2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43953531G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2662G>A	2.37:g.43953531G>A	ENSP00000282406:p.Val888Ile						p.V888I	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			17	2772	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	888			PH 2.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2662G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764779	0.31228	0.0	2.33E-4	ENSG00000152527	ENST00000282406	T	0.22539	1.95	5.57	4.68	0.58851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.253763	0.38959	N	0.001506	T	0.22551	0.0544	L	0.53617	1.68	0.21802	N	0.99954	B;B	0.19935	0.04;0.017	B;B	0.20184	0.028;0.004	T	0.11817	-1.0572	10	0.38643	T	0.18	-6.5994	13.539	0.61662	0.0757:0.0:0.9243:0.0	.	888;325	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	I	888	ENSP00000282406:V888I	ENSP00000282406:V888I	V	+	1	0	PLEKHH2	43807035	0.998000	0.40836	0.020000	0.16555	0.472000	0.32918	4.963000	0.63694	1.307000	0.44944	0.650000	0.86243	GTT		0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		68	290	0	0	0	1	0	68	290				
VPS53	55275	broad.mit.edu	37	17	531366	531366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:531366G>T	ENST00000571805.1	-	9	929	c.793C>A	c.(793-795)Ctg>Atg	p.L265M	VPS53_ENST00000437048.2_Missense_Mutation_p.L265M|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	265					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TACTCTGACAGATGCTGTTTA	0.358																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(793-795)Ctg>Atg		vacuolar protein sorting 53 homolog (S. cerevisiae)							153.0	143.0	147.0					17																	531366		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:531366G>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.793C>A	17.37:g.531366G>T	ENSP00000459312:p.Leu265Met					VPS53_ENST00000401468.3_Intron|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000571805.1_Missense_Mutation_p.L265M|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M	p.L265M	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	9	939	-			265					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.793C>A		.	.	.	.	.	.	.	.	.	.	G	21.7	4.190685	0.78789	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074	T;T;T	0.59906	0.23;0.23;0.23	6.04	5.08	0.68730	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.996;0.998;0.996	T	0.80016	-0.1559	10	0.87932	D	0	-14.7172	14.7343	0.69404	0.0688:0.0:0.9312:0.0	.	265;67;265;236	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	M	265;67;236	ENSP00000401435:L265M;ENSP00000394386:L67M;ENSP00000291074:L236M	ENSP00000291074:L236M	L	-	1	2	VPS53	478116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.478000	0.66806	1.584000	0.49913	-0.217000	0.12591	CTG		0.358	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		39	130	1	0	2.40579e-17	1	2.65515e-17	39	130				
IGF2R	3482	broad.mit.edu	37	6	160480049	160480049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160480049C>T	ENST00000356956.1	+	22	3158	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1004					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCCAGCAAGGCCAGTCGGAAT	0.537																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3010-3012)Cca>Tca		insulin-like growth factor 2 receptor							126.0	118.0	120.0					6																	160480049		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160480049C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3010C>T	6.37:g.160480049C>T	ENSP00000349437:p.Pro1004Ser						p.P1004S	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	22	3158	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1004					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3010C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829125	0.16749	.	.	ENSG00000197081	ENST00000356956	T	0.02067	4.47	4.9	3.12	0.35913	Mannose-6-phosphate receptor, binding (1);	0.819431	0.11240	N	0.584753	T	0.01222	0.0040	L	0.60455	1.87	0.09310	N	1	B	0.21905	0.062	B	0.27608	0.081	T	0.45731	-0.9241	10	0.24483	T	0.36	-7.5375	12.2115	0.54381	0.1206:0.6412:0.2382:0.0	.	1004	P11717	MPRI_HUMAN	S	1004	ENSP00000349437:P1004S	ENSP00000349437:P1004S	P	+	1	0	IGF2R	160400039	0.425000	0.25498	0.093000	0.20910	0.005000	0.04900	0.873000	0.28052	0.268000	0.21939	-0.795000	0.03280	CCA		0.537	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		81	412	0	0	0	1	0	81	412				
ZNF480	147657	broad.mit.edu	37	19	52825413	52825413	+	Nonsense_Mutation	SNP	C	C	T	rs201847817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825413C>T	ENST00000595962.1	+	5	976	c.910C>T	c.(910-912)Cga>Tga	p.R304*	ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTACCTTGCACGACATCAAAG	0.348																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(910-912)Cga>Tga		zinc finger protein 480							62.0	67.0	65.0					19																	52825413		2203	4300	6503	SO:0001587	stop_gained	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825413C>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.910C>T	19.37:g.52825413C>T	ENSP00000471754:p.Arg304*					ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*	p.R304*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	976	+			304					Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	37	c.910C>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749100	0.30955	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.34	-4.69	0.03299	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	6.7913	0.23701	0.2683:0.5136:0.218:0.0	.	.	.	.	X	304;261;227	.	ENSP00000334164:R261X	R	+	1	2	ZNF480	57517225	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.847000	0.00351	-1.043000	0.03258	-0.499000	0.04595	CGA		0.348	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		15	317	0	0	0	1	0	15	317				
FAM159A	348378	broad.mit.edu	37	1	53122577	53122577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53122577C>T	ENST00000517870.1	+	3	588	c.438C>T	c.(436-438)agC>agT	p.S146S	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	146						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGCTGGAGAGCAATGAGGGGC	0.577																																						ENST00000517870.1																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(436-438)agC>agT		family with sequence similarity 159, member A							96.0	103.0	101.0					1																	53122577		2030	4205	6235	SO:0001819	synonymous_variant	348378					integral to membrane		g.chr1:53122577C>T		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.438C>T	1.37:g.53122577C>T						FAM159A_ENST00000401050.3_Intron	p.S146S	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN			3	588	+			146					Q6ZRG4	Silent	SNP	ENST00000517870.1	37	c.438C>T	CCDS41336.1																																																																																				0.577	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		140	486	0	0	0	1	0	140	486				
ECHDC2	55268	broad.mit.edu	37	1	53370467	53370467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53370467G>A	ENST00000371522.4	-	7	646	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ECHDC2_ENST00000536120.1_Silent_p.L139L|ECHDC2_ENST00000358358.5_Silent_p.L154L	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	185					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCCTTCGCCAGGGCCACCCCC	0.637																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(415-417)Ctg>Ttg		enoyl CoA hydratase domain containing 2							40.0	37.0	38.0					1																	53370467		2203	4300	6503	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53370467G>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.553C>T	1.37:g.53370467G>A						ECHDC2_ENST00000371522.4_Silent_p.L185L|ECHDC2_ENST00000358358.5_Silent_p.L154L	p.L139L			Q86YB7	ECHD2_HUMAN			10	1232	-			185					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.415C>T	CCDS55600.1																																																																																				0.637	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		25	212	0	0	0	1	0	25	212				
ARHGAP19	84986	broad.mit.edu	37	10	98989630	98989630	+	Splice_Site	SNP	C	C	T	rs368334954		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98989630C>T	ENST00000358531.4	-	10	1314	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ARHGAP19_ENST00000355366.5_Splice_Site_p.R420Q|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.R400Q|ARHGAP19_ENST00000371027.1_Splice_Site_p.R420Q|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.R429Q|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.R429Q	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	429					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAGGACCTTCCGCTGATTTAA	0.383																																						ENST00000453547.2																			0											c.e10-1				C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	94.0	95.0	95.0		1199,1286	4.6	1.0	10		95	1,8599		0,1,4299	no	missense-near-splice,missense-near-splice	ARHGAP19	NM_001204300.1,NM_032900.5	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	400/466,429/495	98989630	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr10:98989630C>T	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1285-1G>A	10.37:g.98989630C>T						ARHGAP19_ENST00000355366.5_Splice_Site_p.R420_splice|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.R400_splice|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000371027.1_Splice_Site_p.R420_splice|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.R429_splice|ARHGAP19_ENST00000358531.4_Splice_Site_p.R429_splice	p.R429_splice							10	1285	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Splice_Site	SNP	ENST00000358531.4	37	c.1284_splice	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592825	0.86953	0.0	1.16E-4	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.16897	2.65;2.69;2.72;2.69;2.72;2.31	5.46	4.55	0.56014	.	0.000000	0.64402	U	0.000001	T	0.30696	0.0773	M	0.64997	1.995	0.43857	D	0.996459	D;D;D	0.76494	0.994;0.995;0.999	P;P;P	0.57152	0.653;0.56;0.814	T	0.03514	-1.1029	10	0.72032	D	0.01	-1.2313	9.9455	0.41607	0.0:0.9063:0.0:0.0937	.	400;429;420	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	Q	429;429;420;429;420;248;400	ENSP00000414774:R429Q;ENSP00000324468:R429Q;ENSP00000347526:R420Q;ENSP00000351333:R429Q;ENSP00000360066:R420Q;ENSP00000351058:R400Q	ENSP00000324468:R429Q	R	-	2	0	ARHGAP19	98979620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.373000	0.44266	1.288000	0.44600	0.655000	0.94253	CGG		0.383	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	Missense_Mutation	82	393	0	0	0	1	0	82	393				
ALPP	250	broad.mit.edu	37	2	233244978	233244978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244978G>A	ENST00000392027.2	+	6	1009	c.740G>A	c.(739-741)gGg>gAg	p.G247E	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	247					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.G247V(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGCCAAGGTGGGACCAGGCTG	0.627																																						ENST00000392027.2																			1	Substitution - Missense(1)	p.G247V(1)	lung(1)	NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(739-741)gGg>gAg		alkaline phosphatase, placental							106.0	102.0	103.0					2																	233244978		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244978G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.740G>A	2.37:g.233244978G>A	ENSP00000375881:p.Gly247Glu					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.G247E	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	1009	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	247					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.740G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	17.53	3.412497	0.62511	.	.	ENSG00000163283	ENST00000392027	D	0.98926	-5.24	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.116221	0.64402	D	0.000010	D	0.99158	0.9709	M	0.91140	3.18	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.99091	1.0840	10	0.87932	D	0	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	247	P05187	PPB1_HUMAN	E	247	ENSP00000375881:G247E	ENSP00000375881:G247E	G	+	2	0	ALPP	232953222	1.000000	0.71417	0.002000	0.10522	0.011000	0.07611	6.965000	0.76067	1.289000	0.44618	0.298000	0.19748	GGG		0.627	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		89	789	0	0	0	1	0	89	789				
KLF17	128209	broad.mit.edu	37	1	44595120	44595120	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595120G>T	ENST00000372299.3	+	2	235	c.177G>T	c.(175-177)caG>caT	p.Q59H	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	59					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGCATTCAGCACTTTCCTC	0.547																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(175-177)caG>caT		Kruppel-like factor 17							93.0	80.0	85.0					1																	44595120		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595120G>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.177G>T	1.37:g.44595120G>T	ENSP00000361373:p.Gln59His					KLF17_ENST00000476802.1_3'UTR	p.Q59H	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN			2	235	+	Acute lymphoblastic leukemia(166;0.155)		59					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.177G>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865481	0.51588	.	.	ENSG00000171872	ENST00000372299	T	0.10573	2.86	4.58	-5.08	0.02929	.	0.272363	0.26638	N	0.023272	T	0.05640	0.0148	L	0.34521	1.04	0.09310	N	1	B	0.34290	0.447	B	0.30179	0.112	T	0.13764	-1.0497	10	0.56958	D	0.05	.	6.6062	0.22726	0.2676:0.2857:0.4468:0.0	.	59	Q5JT82	KLF17_HUMAN	H	59	ENSP00000361373:Q59H	ENSP00000361373:Q59H	Q	+	3	2	KLF17	44367707	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.393000	0.07305	-1.037000	0.03283	-0.781000	0.03364	CAG		0.547	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		41	356	1	0	1.96642e-18	1	2.182e-18	41	356				
DDN	23109	broad.mit.edu	37	12	49392084	49392084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49392084G>A	ENST00000421952.2	-	2	596	c.575C>T	c.(574-576)cCc>cTc	p.P192L	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	192	Interaction with MAGI2.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACCTCCCCAGGGCCCCGCCCA	0.781																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(574-576)cCc>cTc		dendrin							5.0	7.0	6.0					12																	49392084		1593	3394	4987	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392084G>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.575C>T	12.37:g.49392084G>A	ENSP00000390590:p.Pro192Leu						p.P192L	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	596	-			192			Interaction with MAGI2.			Missense_Mutation	SNP	ENST00000421952.2	37	c.575C>T	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063238	0.08388	.	.	ENSG00000181418	ENST00000421952	T	0.40476	1.03	3.56	2.66	0.31614	.	0.356051	0.20815	N	0.085168	T	0.34106	0.0886	L	0.27053	0.805	0.45161	D	0.998172	P	0.51351	0.944	P	0.47470	0.548	T	0.15954	-1.0419	10	0.72032	D	0.01	-5.7798	9.1059	0.36698	0.0:0.2233:0.7767:0.0	.	192	O94850	DEND_HUMAN	L	192	ENSP00000390590:P192L	ENSP00000390590:P192L	P	-	2	0	DDN	47678351	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.460000	0.35244	1.077000	0.40990	0.561000	0.74099	CCC		0.781	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			27	81	0	0	0	1	0	27	81				
COG2	22796	broad.mit.edu	37	1	230805251	230805251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805251C>T	ENST00000366669.4	+	7	859	c.744C>T	c.(742-744)ggC>ggT	p.G248G	COG2_ENST00000534989.1_Silent_p.G189G|COG2_ENST00000535166.1_Silent_p.G132G|COG2_ENST00000366668.3_Silent_p.G248G	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	248					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTTAGTTGGCCAAGTACTAG	0.483																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(565-567)ggC>ggT		component of oligomeric golgi complex 2							86.0	71.0	76.0					1																	230805251		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805251C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.744C>T	1.37:g.230805251C>T						COG2_ENST00000366669.4_Silent_p.G248G|COG2_ENST00000366668.3_Silent_p.G248G|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Silent_p.G132G	p.G189G			Q14746	COG2_HUMAN			7	902	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	248					Q86U99	Silent	SNP	ENST00000366669.4	37	c.567C>T	CCDS1584.1																																																																																				0.483	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		11	241	0	0	0	1	0	11	241				
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349364G>T	ENST00000264731.3	+	1	149	c.60G>T	c.(58-60)caG>caT	p.Q20H	TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000320472.5_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000392460.3_Missense_Mutation_p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(58-60)caG>caT		tumor protein p63							168.0	154.0	159.0					3																	189349364		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349364G>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.60G>T	3.37:g.189349364G>T	ENSP00000264731:p.Gln20His	HNSCC(45;0.13)				TP63_ENST00000392460.3_Missense_Mutation_p.Q20H|TP63_ENST00000320472.5_Missense_Mutation_p.Q20H|TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H	p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	149	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		20			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.60G>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531329	0.27387	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99680	-6.0;-6.27;-6.23;-6.24;-6.0;-6.38	5.72	5.72	0.89469	.	0.411940	0.24076	N	0.041763	D	0.97763	0.9266	N	0.08118	0	0.80722	D	1	P;P;B;P	0.41848	0.763;0.523;0.34;0.523	B;B;B;B	0.41088	0.24;0.24;0.121;0.347	D	0.98181	1.0457	9	.	.	.	-6.671	12.2156	0.54404	0.0772:0.0:0.9228:0.0	.	20;20;20;20	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	H	20	ENSP00000264731:Q20H;ENSP00000407144:Q20H;ENSP00000317510:Q20H;ENSP00000376253:Q20H;ENSP00000394337:Q20H;ENSP00000371495:Q20H	.	Q	+	3	2	TP63	190832058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.350000	0.52224	2.695000	0.91970	0.655000	0.94253	CAG		0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		110	611	1	0	1.93806e-58	1	2.4311e-58	110	611				
NCOA2	10499	broad.mit.edu	37	8	71068359	71068359	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71068359A>G	ENST00000452400.2	-	11	2422	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	747					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCTAGCAAATAGCGAAGTA	0.438			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2239-2241)taT>taC		nuclear receptor coactivator 2							134.0	133.0	133.0					8																	71068359		1857	4098	5955	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068359A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2241T>C	8.37:g.71068359A>G						NCOA2_ENST00000524223.1_5'UTR	p.Y747Y	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	2422	-	Breast(64;0.201)		747					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.2241T>C	CCDS47872.1																																																																																				0.438	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			99	442	0	0	0	1	0	99	442				
C5orf38	153571	broad.mit.edu	37	5	2752520	2752520	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2752520G>A	ENST00000334000.3	+	1	259	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	C5orf38_ENST00000515640.1_Missense_Mutation_p.A48T|C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|IRX2_ENST00000302057.5_5'Flank|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T|C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|IRX2_ENST00000502957.1_Intron	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	48						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGTCCACTCCGCCCAGCATGG	0.711																																						ENST00000515640.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(142-144)Gcc>Acc		chromosome 5 open reading frame 38							14.0	16.0	15.0					5																	2752520		2202	4295	6497	SO:0001583	missense	153571					extracellular region		g.chr5:2752520G>A	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.142G>A	5.37:g.2752520G>A	ENSP00000334267:p.Ala48Thr					IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T|C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|C5orf38_ENST00000334000.3_Missense_Mutation_p.A48T	p.A48T			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	1	161	+			48						Missense_Mutation	SNP	ENST00000334000.3	37	c.142G>A	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	0.163	-1.078884	0.01903	.	.	ENSG00000186493	ENST00000457752;ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.24	-2.6	0.06190	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	P	0.42871	0.792	B	0.38225	0.268	T	0.15578	-1.0432	8	0.87932	D	0	.	6.613	0.22761	0.0:0.1469:0.3988:0.4543	.	48	Q86SI9	CEI_HUMAN	T	48	.	ENSP00000334267:A48T	A	+	1	0	C5orf38	2805520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-1.262000	0.02459	-2.048000	0.00412	GCC		0.711	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		20	63	0	0	0	1	0	20	63				
ASB10	136371	broad.mit.edu	37	7	150873210	150873210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150873210C>T	ENST00000420175.2	-	5	1417	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	ASB10_ENST00000377867.3_Missense_Mutation_p.V450M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|ASB10_ENST00000422024.1_Missense_Mutation_p.V510M			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	465					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V427L(1)|p.V465L(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGTAGAGCACGCCCTCAAAA	0.672																																						ENST00000422024.1																			2	Substitution - Missense(2)	p.V427L(1)|p.V465L(1)	lung(2)	NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1528-1530)Gtg>Atg		ankyrin repeat and SOCS box containing 10							24.0	26.0	25.0					7																	150873210		2199	4295	6494	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150873210C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1393G>A	7.37:g.150873210C>T	ENSP00000391137:p.Val465Met					ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|ASB10_ENST00000420175.2_Missense_Mutation_p.V465M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|ASB10_ENST00000377867.3_Missense_Mutation_p.V450M	p.V510M	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1653	-			465					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1528G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158322	0.57368	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.69306	-0.39;-0.32;-0.37;-0.39;-0.35	4.73	1.29	0.21616	.	0.402814	0.25944	N	0.027292	T	0.67154	0.2863	L	0.61218	1.895	0.22317	N	0.999205	D;D;D	0.65815	0.995;0.968;0.987	P;B;B	0.52627	0.704;0.401;0.416	T	0.59359	-0.7469	10	0.72032	D	0.01	-4.0365	6.6198	0.22796	0.0:0.6147:0.1575:0.2278	.	450;465;472	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	M	427;450;510;472;465	ENSP00000275838:V427M;ENSP00000367098:V450M;ENSP00000401369:V510M;ENSP00000398247:V472M;ENSP00000391137:V465M	ENSP00000275838:V427M	V	-	1	0	ASB10	150504143	0.009000	0.17119	0.919000	0.36401	0.984000	0.73092	-0.206000	0.09398	0.392000	0.25172	0.655000	0.94253	GTG		0.672	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		42	190	0	0	0	1	0	42	190				
TLR9	54106	broad.mit.edu	37	3	52256221	52256221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256221C>T	ENST00000360658.2	-	2	2744	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	TLR9_ENST00000494383.1_Silent_p.P857P|TLR9_ENST00000597542.1_Missense_Mutation_p.R728Q	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	704					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	ATCCAGCCTCCGGAGCCGGGT	0.627																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2182-2184)cGg>cAg		toll-like receptor 9	Chloroquine(DB00608)						39.0	46.0	44.0					3																	52256221		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256221C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2111G>A	3.37:g.52256221C>T	ENSP00000353874:p.Arg704Gln					TLR9_ENST00000494383.1_Silent_p.P857P|TLR9_ENST00000360658.2_Missense_Mutation_p.R704Q	p.R728Q			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3140	-			704					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2183G>A	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138269	0.01742	.	.	ENSG00000239732	ENST00000360658	T	0.58506	0.33	5.03	-4.47	0.03525	.	0.711076	0.11608	N	0.547128	T	0.28896	0.0717	N	0.17674	0.51	0.09310	N	1	B;B	0.20550	0.007;0.046	B;B	0.12837	0.002;0.008	T	0.37079	-0.9721	10	0.02654	T	1	.	6.3756	0.21505	0.1466:0.5007:0.0:0.3527	.	801;704	B4E0A1;Q9NR96	.;TLR9_HUMAN	Q	704	ENSP00000353874:R704Q	ENSP00000353874:R704Q	R	-	2	0	TLR9	52231261	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.632000	0.00870	-0.844000	0.04184	0.462000	0.41574	CGG		0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			36	398	0	0	0	1	0	36	398				
TJP1	7082	broad.mit.edu	37	15	30012008	30012008	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30012008T>C	ENST00000346128.6	-	20	3450	c.2976A>G	c.(2974-2976)tcA>tcG	p.S992S	TJP1_ENST00000356107.6_Silent_p.S992S|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000545208.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	992					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGACGACAATGATGGTTCTT	0.463																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2974-2976)tcA>tcG		tight junction protein 1							193.0	190.0	191.0					15																	30012008		2036	4182	6218	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30012008T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2976A>G	15.37:g.30012008T>C						TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000356107.6_Silent_p.S992S	p.S992S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	20	3450	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	992					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.2976A>G	CCDS42007.1																																																																																				0.463	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		114	539	0	0	0	1	0	114	539				
SYNE1	23345	broad.mit.edu	37	6	152577893	152577893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152577893C>A	ENST00000367255.5	-	102	19581	c.18980G>T	c.(18979-18981)aGc>aTc	p.S6327I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6327					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTGGCCTGCTATAAAGCTG	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18979-18981)aGc>aTc		spectrin repeat containing, nuclear envelope 1							136.0	120.0	125.0					6																	152577893		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152577893C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18980G>T	6.37:g.152577893C>A	ENSP00000356224:p.Ser6327Ile	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I	p.S6327I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	102	19581	-		Ovarian(120;0.0955)	6327					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18980G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280586	0.59758	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56776	0.53;0.52;0.44;0.53;0.65;2.55	5.29	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.57007	0.2024	M	0.67953	2.075	0.53005	D	0.999966	D;D;D	0.61080	0.981;0.981;0.989	P;P;P	0.58391	0.693;0.693;0.838	T	0.64373	-0.6423	10	0.72032	D	0.01	.	14.0829	0.64937	0.0:0.9269:0.0:0.0731	.	6327;6327;6256	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6327;6256;6327;6256;5939;851	ENSP00000356224:S6327I;ENSP00000396024:S6256I;ENSP00000265368:S6327I;ENSP00000390975:S6256I;ENSP00000341887:S5939I;ENSP00000349276:S851I	ENSP00000265368:S6327I	S	-	2	0	SYNE1	152619586	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	1.296000	0.33389	1.354000	0.45846	0.650000	0.86243	AGC		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	419	1	0	1.76533e-06	1	1.82138e-06	32	419				
PTPRJ	5795	broad.mit.edu	37	11	48161167	48161167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48161167A>G	ENST00000418331.2	+	11	2634	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	761	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGAACAATGCGACCCAC	0.537																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2281-2283)aAt>aGt		protein tyrosine phosphatase, receptor type, J							91.0	85.0	87.0					11																	48161167		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48161167A>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2282A>G	11.37:g.48161167A>G	ENSP00000400010:p.Asn761Ser						p.N761S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			11	2634	+			761			Fibronectin type-III 8.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.2282A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	9.835	1.189538	0.21954	.	.	ENSG00000149177	ENST00000418331	T	0.52057	0.68	5.29	1.58	0.23477	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39627	0.1085	M	0.65975	2.015	0.09310	N	0.999999	B	0.25850	0.136	B	0.19391	0.025	T	0.30238	-0.9985	9	0.14252	T	0.57	.	7.4039	0.26979	0.7336:0.0:0.2664:0.0	.	761	Q12913	PTPRJ_HUMAN	S	761	ENSP00000400010:N761S	ENSP00000400010:N761S	N	+	2	0	PTPRJ	48117743	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.839000	0.27586	0.321000	0.23259	-0.256000	0.11100	AAT		0.537	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			45	219	0	0	0	1	0	45	219				
OR2B11	127623	broad.mit.edu	37	1	247614372	247614372	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247614372G>T	ENST00000318749.6	-	1	936	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTCTCCTCAGAGCCCCCTTC	0.458																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(913-915)Ctg>Atg		olfactory receptor, family 2, subfamily B, member 11							197.0	211.0	206.0					1																	247614372		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614372G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.913C>A	1.37:g.247614372G>T	ENSP00000325682:p.Leu305Met						p.L305M	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	936	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	305					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.913C>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	5.783	0.328900	0.10956	.	.	ENSG00000177535	ENST00000318749	T	0.46451	0.87	5.09	4.18	0.49190	.	0.000000	0.42053	D	0.000778	T	0.43897	0.1268	L	0.54863	1.705	0.09310	N	1	D	0.58620	0.983	P	0.50791	0.65	T	0.31364	-0.9946	10	0.40728	T	0.16	.	7.9045	0.29755	0.1816:0.0:0.8184:0.0	.	305	Q5JQS5	OR2BB_HUMAN	M	305	ENSP00000325682:L305M	ENSP00000325682:L305M	L	-	1	2	OR2B11	245680995	0.000000	0.05858	0.054000	0.19295	0.015000	0.08874	-0.423000	0.07034	1.523000	0.49018	0.643000	0.83706	CTG		0.458	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		412	1245	1	0	9.5377e-104	1	1.22715e-103	412	1245				
B4GALT5	9334	broad.mit.edu	37	20	48260145	48260145	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48260145T>C	ENST00000371711.4	-	4	594	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	136					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTCATGAATGTAATCCATTCC	0.463																																						ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(406-408)tAc>tGc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							203.0	182.0	189.0					20																	48260145		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48260145T>C	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.407A>G	20.37:g.48260145T>C	ENSP00000360776:p.Tyr136Cys						p.Y136C	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		4	594	-			136					E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.407A>G	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525094	0.64747	.	.	ENSG00000158470	ENST00000371711	T	0.21734	1.99	5.46	-3.22	0.05125	.	0.514621	0.24020	N	0.042290	T	0.14657	0.0354	N	0.14661	0.345	0.23150	N	0.998216	P	0.44521	0.837	P	0.52627	0.704	T	0.18808	-1.0325	10	0.40728	T	0.16	0.0085	5.8684	0.18789	0.1051:0.0634:0.4693:0.3622	.	136	O43286	B4GT5_HUMAN	C	136	ENSP00000360776:Y136C	ENSP00000360776:Y136C	Y	-	2	0	B4GALT5	47693552	0.927000	0.31430	0.005000	0.12908	0.929000	0.56500	1.853000	0.39358	-0.974000	0.03550	0.459000	0.35465	TAC		0.463	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		94	346	0	0	0	1	0	94	346				
TTC17	55761	broad.mit.edu	37	11	43423045	43423045	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000299240.6_Silent_p.C423C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	423					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1267-1269)tgC>tgT		tetratricopeptide repeat domain 17							132.0	116.0	122.0					11																	43423045		2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43423045C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1269C>T	11.37:g.43423045C>T						TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.C423C	p.C423C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			10	1283	+			423					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.1269C>T	CCDS31466.1																																																																																				0.408	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		5	132	0	0	0	1	0	5	132				
HLCS	3141	broad.mit.edu	37	21	38132072	38132072	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38132072A>G	ENST00000399120.1	-	10	2981	c.1751T>C	c.(1750-1752)cTg>cCg	p.L584P	HLCS_ENST00000336648.4_Missense_Mutation_p.L584P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	584	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGAGTTAACCAGAACTCCGCC	0.348																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1750-1752)cTg>cCg		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						101.0	105.0	104.0					21																	38132072		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38132072A>G		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1751T>C	21.37:g.38132072A>G	ENSP00000382071:p.Leu584Pro					HLCS_ENST00000336648.3_Missense_Mutation_p.L584P	p.L584P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			10	2981	-		Myeloproliferative disorder(46;0.0422)	584					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1751T>C	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548100	0.86022	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.99282	-5.68;-5.68	5.31	5.31	0.75309	Biotin/lipoate A/B protein ligase (1);	0.000000	0.64402	D	0.000007	D	0.99697	0.9885	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97127	0.9815	10	0.87932	D	0	.	15.2626	0.73637	1.0:0.0:0.0:0.0	.	584	P50747	BPL1_HUMAN	P	584	ENSP00000382071:L584P;ENSP00000338387:L584P	ENSP00000338387:L584P	L	-	2	0	HLCS	37053942	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.550000	0.90675	2.002000	0.58637	0.482000	0.46254	CTG		0.348	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			49	462	0	0	0	1	0	49	462				
TLR3	7098	broad.mit.edu	37	4	187000170	187000170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187000170G>A	ENST00000296795.3	+	3	722	c.618G>A	c.(616-618)tcG>tcA	p.S206S	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	206					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGTTGTCATCGAATCAAATTA	0.323																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(616-618)tcG>tcA		toll-like receptor 3							24.0	27.0	26.0					4																	187000170		2194	4292	6486	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187000170G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.618G>A	4.37:g.187000170G>A							p.S206S	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	3	722	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	206					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.618G>A	CCDS3846.1																																																																																				0.323	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			24	106	0	0	0	1	0	24	106				
ESD	2098	broad.mit.edu	37	13	47345570	47345570	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47345570G>T	ENST00000378720.3	-	10	1012	c.830C>A	c.(829-831)gCt>gAt	p.A277D	ESD_ENST00000378697.1_Missense_Mutation_p.A248D	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	277					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAGGTATTTAGCATGATGTCT	0.308																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(829-831)gCt>gAt		esterase D	Glutathione(DB00143)						160.0	161.0	161.0					13																	47345570		2203	4293	6496	SO:0001583	missense	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47345570G>T	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.830C>A	13.37:g.47345570G>T	ENSP00000367992:p.Ala277Asp					ESD_ENST00000378697.1_Missense_Mutation_p.A248D	p.A277D	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	10	1012	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	277					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	ENST00000378720.3	37	c.830C>A	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691844	0.88735	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.32272	1.46;1.46	6.17	6.17	0.99709	.	0.053187	0.85682	D	0.000000	T	0.67069	0.2854	H	0.94698	3.57	0.80722	D	1	P	0.52842	0.956	D	0.72075	0.976	T	0.74714	-0.3572	10	0.87932	D	0	-14.6698	15.3567	0.74431	0.0:0.1387:0.8613:0.0	.	277	P10768	ESTD_HUMAN	D	277;248	ENSP00000367992:A277D;ENSP00000367969:A248D	ENSP00000367969:A248D	A	-	2	0	ESD	46243571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCT		0.308	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			52	390	1	0	1.56989e-16	1	1.72551e-16	52	390				
PIK3CG	5294	broad.mit.edu	37	7	106513018	106513018	+	Missense_Mutation	SNP	G	G	A	rs187473519		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513018G>A	ENST00000359195.3	+	3	2342	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	678	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAGCGCCCTTGCCAGATTTCT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21792	0.0		0.0	False		,,,				2504	0.0					ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2032-2034)Gcc>Acc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							198.0	189.0	192.0					7																	106513018		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513018G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2032G>A	7.37:g.106513018G>A	ENSP00000352121:p.Ala678Thr					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T	p.A678T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			3	2342	+			678					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2032G>A	CCDS5739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.301109	0.95601	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.65178	-0.14;-0.14;-0.14	5.62	5.62	0.85841	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.260360	0.44097	D	0.000491	T	0.67325	0.2881	L	0.55834	1.745	0.53005	D	0.999962	P	0.40875	0.731	P	0.50570	0.644	T	0.61103	-0.7130	10	0.25106	T	0.35	-13.3468	14.8206	0.70070	0.0:0.0:0.856:0.144	.	678	P48736	PK3CG_HUMAN	T	678	ENSP00000392258:A678T;ENSP00000419260:A678T;ENSP00000352121:A678T	ENSP00000352121:A678T	A	+	1	0	PIK3CG	106300254	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.420000	0.80191	2.809000	0.96659	0.655000	0.94253	GCC		0.393	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			123	516	0	0	0	1	0	123	516				
CENPF	1063	broad.mit.edu	37	1	214813956	214813956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214813956G>A	ENST00000366955.3	+	12	2443	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTTGCATGCCGAATATGAGAG	0.428																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(2275-2277)Gaa>Aaa		centromere protein F, 350/400kDa							53.0	54.0	54.0					1																	214813956		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214813956G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2275G>A	1.37:g.214813956G>A	ENSP00000355922:p.Glu759Lys						p.E759K	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	2443	+			759					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.2275G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119815	0.37436	.	.	ENSG00000117724	ENST00000366955	T	0.05447	3.44	5.59	3.6	0.41247	.	0.000000	0.38897	N	0.001534	T	0.16981	0.0408	.	.	.	0.26475	N	0.975212	D	0.76494	0.999	P	0.61592	0.891	T	0.01635	-1.1307	9	0.48119	T	0.1	.	11.1868	0.48662	0.0766:0.2134:0.71:0.0	.	759	P49454	CENPF_HUMAN	K	759	ENSP00000355922:E759K	ENSP00000355922:E759K	E	+	1	0	CENPF	212880579	0.726000	0.28059	0.045000	0.18777	0.323000	0.28346	1.106000	0.31098	1.372000	0.46190	-0.192000	0.12808	GAA		0.428	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		17	248	0	0	0	1	0	17	248				
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T	rs369678964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128505667C>T	ENST00000368215.3	-	7	1071	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368227.3_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1072-1074)Gaa>Aaa		protein tyrosine phosphatase, receptor type, K		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	170.0	155.0	160.0		1072,1072	5.5	1.0	6		160	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	358/1447,358/1441	128505667	1,13005	2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128505667C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1072G>A	6.37:g.128505667C>T	ENSP00000357198:p.Glu358Lys					PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.E358K	p.E358K			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	7	1438	-			358			Fibronectin type-III 1.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1072G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.063200	0.93898	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D;P;P	0.69078	0.985;0.997;0.996;0.997;0.949;0.937	P;D;P;P;P;B	0.63957	0.642;0.92;0.869;0.875;0.489;0.356	D	0.87058	0.2151	10	0.56958	D	0.05	.	19.3758	0.94508	0.0:1.0:0.0:0.0	.	358;358;358;215;358;358	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	K	358;358;358;358;358;358;358;215	ENSP00000357209:E358K;ENSP00000357210:E358K;ENSP00000432973:E358K;ENSP00000357196:E358K;ENSP00000357193:E358K;ENSP00000357198:E358K;ENSP00000357190:E358K	ENSP00000357190:E358K	E	-	1	0	PTPRK	128547360	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	5.999000	0.70665	2.577000	0.86979	0.655000	0.94253	GAA		0.458	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			124	589	0	0	0	1	0	124	589				
DNAH12	201625	broad.mit.edu	37	3	57493472	57493472	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57493472T>G	ENST00000351747.2	-	8	975	c.795A>C	c.(793-795)ccA>ccC	p.P265P	DNAH12_ENST00000311202.6_Silent_p.P265P|DNAH12_ENST00000389536.4_Silent_p.P265P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	265	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTATAACCTTTGGATACCATG	0.343																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(793-795)ccA>ccC		dynein, axonemal, heavy chain 12							163.0	154.0	157.0					3																	57493472		2203	4299	6502	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57493472T>G	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.795A>C	3.37:g.57493472T>G						DNAH12_ENST00000389536.4_Silent_p.P265P|DNAH12_ENST00000311202.6_Silent_p.P265P	p.P265P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			8	975	-			265			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.795A>C																																																																																					0.343	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		86	332	0	0	0	1	0	86	332				
LRRC14	9684	broad.mit.edu	37	8	145746029	145746029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145746029G>A	ENST00000292524.1	+	3	883	c.737G>A	c.(736-738)cGc>cAc	p.R246H	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	246										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACGTGGCCCGCTTCCAGCAC	0.642																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(736-738)cGc>cAc		leucine rich repeat containing 14							48.0	50.0	49.0					8																	145746029		2203	4299	6502	SO:0001583	missense	9684							g.chr8:145746029G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.737G>A	8.37:g.145746029G>A	ENSP00000292524:p.Arg246His					LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H	p.R246H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	883	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		246					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.737G>A	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251063	0.39797	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.54071	0.59;0.59;0.59	4.08	3.1	0.35709	.	0.816864	0.11252	N	0.583542	T	0.36468	0.0968	L	0.36672	1.1	0.26091	N	0.980956	P	0.42078	0.77	B	0.36885	0.235	T	0.19516	-1.0303	10	0.39692	T	0.17	.	4.7619	0.13111	0.2552:0.0:0.7448:0.0	.	246	Q15048	LRC14_HUMAN	H	246	ENSP00000436452:R246H;ENSP00000434768:R246H;ENSP00000292524:R246H	ENSP00000292524:R246H	R	+	2	0	LRRC14	145716837	0.050000	0.20438	0.545000	0.28153	0.802000	0.45316	2.394000	0.44450	2.097000	0.63578	0.462000	0.41574	CGC		0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		71	351	0	0	0	1	0	71	351				
CCND3	896	broad.mit.edu	37	6	41908275	41908275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41908275T>G	ENST00000372991.4	-	2	445	c.247A>C	c.(247-249)Aac>Cac	p.N83H	CCND3_ENST00000372988.4_Missense_Mutation_p.N2H|CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000511642.1_Missense_Mutation_p.N2H|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000415497.2_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	83	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCAGGTAGTTCATGGCCAGG	0.637			T	IGH@	MM																																	ENST00000511642.1				Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0				endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20						c.(4-6)Aac>Cac		cyclin D3							100.0	92.0	95.0					6																	41908275		2203	4300	6503	SO:0001583	missense	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41908275T>G		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.247A>C	6.37:g.41908275T>G	ENSP00000362082:p.Asn83His					CCND3_ENST00000372988.4_Missense_Mutation_p.N2H|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000372991.4_Missense_Mutation_p.N83H|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000415497.2_Intron	p.N2H			P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	755	-	Colorectal(47;0.121)		83					B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	c.4A>C	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	22.6|22.6	4.308671|4.308671	0.81247|0.81247	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064;ENST00000502771;ENST00000514588|ENST00000512426	T;T;T;T;T;T;T;T|.	0.13307|.	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Cyclin, N-terminal (2);Cyclin-like (3);|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|.	0.72526|.	0.3471|.	M|M	0.86573|0.86573	2.825|2.825	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.98;0.999;1.0|.	T|.	0.77338|.	-0.2625|.	10|.	0.87932|.	D|.	0|.	.|.	13.4041|13.4041	0.60900|0.60900	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2;83;33|.	B4E0N5;P30281;Q5T8J1|.	.;CCND3_HUMAN;.|.	H|C	83;2;33;2;2;2;2;33|17	ENSP00000362082:N83H;ENSP00000426212:N2H;ENSP00000362078:N33H;ENSP00000362079:N2H;ENSP00000425986:N2H;ENSP00000425830:N2H;ENSP00000425334:N2H;ENSP00000420991:N33H|.	ENSP00000362078:N33H|.	N|X	-|-	1|3	0|0	CCND3|CCND3	42016253|42016253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.010000|6.010000	0.70753|0.70753	1.839000|1.839000	0.53478|0.53478	0.459000|0.459000	0.35465|0.35465	AAC|TGA		0.637	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		87	410	0	0	0	1	0	87	410				
TMEM161B	153396	broad.mit.edu	37	5	87498877	87498877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:87498877G>A	ENST00000296595.6	-	9	940	c.816C>T	c.(814-816)atC>atT	p.I272I	TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000506536.1_Silent_p.I90I|TMEM161B_ENST00000509387.1_Silent_p.I145I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	272						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CCAAGAAGTTGATATGAAGTA	0.363																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(814-816)atC>atT		transmembrane protein 161B							122.0	113.0	116.0					5																	87498877		2203	4300	6503	SO:0001819	synonymous_variant	153396					integral to membrane		g.chr5:87498877G>A	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.816C>T	5.37:g.87498877G>A						TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000509387.1_Silent_p.I145I|TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000506536.1_Silent_p.I90I	p.I272I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	9	940	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	272					Q5CZH7|Q6UWQ6	Silent	SNP	ENST00000296595.6	37	c.816C>T	CCDS4065.1																																																																																				0.363	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		61	309	0	0	0	1	0	61	309				
EPYC	1833	broad.mit.edu	37	12	91371927	91371927	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91371927A>G	ENST00000261172.3	-	3	370	c.278T>C	c.(277-279)aTt>aCt	p.I93T		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	93					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGAGCCATCAATCAGCCTGGG	0.537											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261172.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(277-279)aTt>aCt		epiphycan							128.0	126.0	126.0					12																	91371927		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91371927A>G	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.278T>C	12.37:g.91371927A>G	ENSP00000261172:p.Ile93Thr		OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282		p.I93T	NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN			3	370	-			93					A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.278T>C	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720306	0.30503	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.66099	0.5;-0.19	5.48	4.34	0.51931	.	0.359483	0.34338	N	0.004043	T	0.56529	0.1991	L	0.53249	1.67	0.42210	D	0.9918	B	0.09022	0.002	B	0.12837	0.008	T	0.54377	-0.8303	10	0.48119	T	0.1	.	11.5031	0.50450	0.9294:0.0:0.0706:0.0	.	93	Q99645	EPYC_HUMAN	T	93	ENSP00000261172:I93T;ENSP00000448272:I93T	ENSP00000261172:I93T	I	-	2	0	EPYC	89896058	1.000000	0.71417	0.780000	0.31762	0.460000	0.32559	5.945000	0.70226	1.027000	0.39758	0.454000	0.30748	ATT		0.537	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		80	401	0	0	0	1	0	80	401				
ZNF320	162967	broad.mit.edu	37	19	53385152	53385152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53385152C>T	ENST00000595635.1	-	8	728	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTTGCTTGTCTCTGCAATGT	0.383																																						ENST00000595635.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(226-228)aGa>aAa		zinc finger protein 320							161.0	158.0	159.0					19																	53385152		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53385152C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.227G>A	19.37:g.53385152C>T	ENSP00000473091:p.Arg76Lys					ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	p.R76K	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	8	728	-			76			KRAB.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.227G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	8.622	0.891653	0.17613	.	.	ENSG00000182986	ENST00000391781	T	0.06528	3.29	1.18	1.18	0.20946	Krueppel-associated box (1);	.	.	.	.	T	0.04815	0.0130	L	0.50333	1.59	0.09310	N	1	P	0.40476	0.718	B	0.28385	0.089	T	0.37596	-0.9699	9	0.34782	T	0.22	.	5.7807	0.18304	0.0:1.0:0.0:0.0	.	76	A2RRD8	ZN320_HUMAN	K	76	ENSP00000375660:R76K	ENSP00000375660:R76K	R	-	2	0	ZNF320	58076964	0.000000	0.05858	0.009000	0.14445	0.041000	0.13682	-0.289000	0.08365	0.955000	0.37878	0.184000	0.17185	AGA		0.383	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		194	753	0	0	0	1	0	194	753				
PCDH10	57575	broad.mit.edu	37	4	134071249	134071249	+	De_novo_Start_InFrame	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071249T>G	ENST00000264360.5	+	0	780				RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGGAGGTGATTGGGTGGCTG	0.448																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136								protocadherin 10							61.0	63.0	63.0					4																	134071249		2203	4300	6503			57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071249T>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7			4.37:g.134071249T>G								NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	0	780	+								Q4W5F6|Q96SF0	Translation_Start_Site	SNP	ENST00000264360.5	37		CCDS34063.1																																																																																				0.448	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		79	327	0	0	0	1	0	79	327				
GLG1	2734	broad.mit.edu	37	16	74524940	74524940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74524940G>A	ENST00000422840.2	-	8	1407	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	470					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCTCCCCTCGAACTACTTTC	0.493																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1408-1410)Cga>Tga		golgi glycoprotein 1							129.0	118.0	122.0					16																	74524940		2198	4300	6498	SO:0001587	stop_gained	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74524940G>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1408C>T	16.37:g.74524940G>A	ENSP00000405984:p.Arg470*					GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*	p.R470*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			8	1407	-			470					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Nonsense_Mutation	SNP	ENST00000422840.2	37	c.1408C>T	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	38	6.850222	0.97885	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.977	16.2296	0.82322	0.0:0.0:0.8664:0.1336	.	.	.	.	X	470;459;470	.	ENSP00000205061:R470X	R	-	1	2	GLG1	73082441	1.000000	0.71417	0.941000	0.38009	0.939000	0.58152	6.367000	0.73099	1.384000	0.46424	0.655000	0.94253	CGA		0.493	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		105	449	0	0	0	1	0	105	449				
CELSR3	1951	broad.mit.edu	37	3	48677614	48677614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48677614G>T	ENST00000164024.4	-	34	9684	c.9404C>A	c.(9403-9405)gCt>gAt	p.A3135D	CELSR3_ENST00000544264.1_Missense_Mutation_p.A3140D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3135					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGCGGCCAGCCATGGCGCC	0.687																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9418-9420)gCt>gAt		cadherin, EGF LAG seven-pass G-type receptor 3							35.0	36.0	36.0					3																	48677614		2201	4286	6487	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677614G>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9404C>A	3.37:g.48677614G>T	ENSP00000164024:p.Ala3135Asp					CELSR3_ENST00000164024.4_Missense_Mutation_p.A3135D	p.A3140D			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9699	-			3135					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9419C>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862507	0.32884	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.52	4.81	3.91	0.45181	.	.	.	.	.	T	0.54319	0.1851	N	0.14661	0.345	0.21697	N	0.999586	B;B;B	0.26258	0.145;0.09;0.112	B;B;B	0.27380	0.079;0.036;0.036	T	0.49790	-0.8902	9	0.54805	T	0.06	.	9.9508	0.41638	0.0:0.1512:0.692:0.1568	.	3140;3135;3233	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	D	3135;3140	ENSP00000164024:A3135D;ENSP00000445694:A3140D	ENSP00000164024:A3135D	A	-	2	0	CELSR3	48652618	1.000000	0.71417	0.383000	0.26132	0.720000	0.41350	4.780000	0.62382	0.970000	0.38263	0.555000	0.69702	GCT		0.687	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		84	307	1	0	9.4237e-28	1	1.09288e-27	84	307				
MCM3	4172	broad.mit.edu	37	6	52132686	52132686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52132686C>A	ENST00000229854.7	-	14	2125	c.2049G>T	c.(2047-2049)gaG>gaT	p.E683D	MCM3_ENST00000419835.2_Missense_Mutation_p.E637D|MCM3_ENST00000596288.1_Missense_Mutation_p.E728D			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	683					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					gctcctggtcctcttggcttt	0.468																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(2182-2184)gaG>gaT		minichromosome maintenance complex component 3							325.0	243.0	271.0					6																	52132686		2201	4300	6501	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52132686C>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2049G>T	6.37:g.52132686C>A	ENSP00000229854:p.Glu683Asp					MCM3_ENST00000419835.2_Missense_Mutation_p.E637D|MCM3_ENST00000229854.7_Missense_Mutation_p.E683D	p.E728D	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			14	2211	-	Lung NSC(77;0.0931)		683					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.2184G>T		.	.	.	.	.	.	.	.	.	.	C	11.49	1.654578	0.29425	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.61742	0.08;0.08;0.08	4.59	2.79	0.32731	.	1.165220	0.06123	N	0.669208	T	0.15565	0.0375	N	0.11427	0.14	0.31581	N	0.655164	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08889	-1.0700	10	0.13470	T	0.59	-11.1109	7.6055	0.28100	0.0:0.8059:0.0:0.1941	.	637;683	B4DUQ9;P25205	.;MCM3_HUMAN	D	683;180;637;178	ENSP00000229854:E683D;ENSP00000388647:E637D;ENSP00000407651:E178D	ENSP00000229854:E683D	E	-	3	2	MCM3	52240645	0.996000	0.38824	0.997000	0.53966	0.778000	0.44026	0.508000	0.22692	0.846000	0.35142	0.655000	0.94253	GAG		0.468	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			7	75	1	0	2.7689e-08	1	2.89045e-08	7	75				
C9orf173	441476	broad.mit.edu	37	9	140146307	140146307	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140146307G>T	ENST00000412566.1	+	2	237	c.228G>T	c.(226-228)caG>caT	p.Q76H	C9orf173_ENST00000388931.3_Missense_Mutation_p.Q76H			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	76										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GCACCCCCCAGGAGTCCCTGC	0.647																																						ENST00000388931.3																			0				kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						c.(226-228)caG>caT		chromosome 9 open reading frame 173							28.0	38.0	35.0					9																	140146307		1944	4125	6069	SO:0001583	missense	441476							g.chr9:140146307G>T		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.228G>T	9.37:g.140146307G>T	ENSP00000391218:p.Gln76His					C9orf173_ENST00000412566.1_Missense_Mutation_p.Q76H	p.Q76H	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN			2	254	+			76					A2RU24|B7ZM72|B7ZM76|Q8NEA3	Missense_Mutation	SNP	ENST00000412566.1	37	c.228G>T	CCDS48065.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170606	0.38315	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.47528	0.84;0.86	3.79	-0.842	0.10748	.	1.853770	0.03291	N	0.187588	T	0.33585	0.0868	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.11235	0.001;0.004;0.004;0.004	B;B;B;B	0.08055	0.001;0.003;0.003;0.002	T	0.17961	-1.0352	10	0.51188	T	0.08	1.329	2.382	0.04357	0.1111:0.3402:0.3604:0.1883	.	76;76;76;76	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	H	76	ENSP00000373583:Q76H;ENSP00000391218:Q76H	ENSP00000373583:Q76H	Q	+	3	2	C9orf173	139266128	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.163000	0.16520	-0.275000	0.09219	0.561000	0.74099	CAG		0.647	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		4	60	1	0	0.150653	1	0.150899	4	60				
HSPD1	3329	broad.mit.edu	37	2	198363459	198363459	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363459G>T	ENST00000388968.3	-	2	381	c.114C>A	c.(112-114)gcC>gcA	p.A38A	HSPD1_ENST00000345042.2_Silent_p.A38A|HSPE1_ENST00000409468.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.A38A|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	38					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.A38A(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GAAGCATTAAGGCTCGGGCAT	0.458																																						ENST00000388968.3																			1	Substitution - coding silent(1)	p.A38A(1)	skin(1)	NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(112-114)gcC>gcA		heat shock 60kDa protein 1 (chaperonin)							80.0	84.0	83.0					2																	198363459		2203	4300	6503	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198363459G>T	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.114C>A	2.37:g.198363459G>T						HSPD1_ENST00000544407.1_Silent_p.A38A|HSPD1_ENST00000345042.2_Silent_p.A38A	p.A38A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		2	381	-			38					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.114C>A	CCDS33357.1																																																																																				0.458	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		20	501	1	0	2.48779e-11	1	2.65321e-11	20	501				
UGT8	7368	broad.mit.edu	37	4	115597280	115597280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115597280T>G	ENST00000310836.6	+	6	1984	c.1462T>G	c.(1462-1464)Tta>Gta	p.L488V	UGT8_ENST00000394511.3_Missense_Mutation_p.L488V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	488					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGCTGCCTTGTTATACTTTCT	0.398																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1462-1464)Tta>Gta		UDP glycosyltransferase 8							148.0	127.0	134.0					4																	115597280		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115597280T>G	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1462T>G	4.37:g.115597280T>G	ENSP00000311648:p.Leu488Val					UGT8_ENST00000394511.3_Missense_Mutation_p.L488V	p.L488V	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	6	1984	+		Ovarian(17;0.156)	488					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.1462T>G	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	T	0.114	-1.134200	0.01742	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.57436	0.4;0.4	5.44	0.227	0.15359	.	0.746296	0.13787	N	0.362787	T	0.14442	0.0349	N	0.00707	-1.245	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34030	-0.9845	10	0.02654	T	1	.	5.7321	0.18047	0.0:0.325:0.2515:0.4235	.	488	Q16880	CGT_HUMAN	V	488	ENSP00000311648:L488V;ENSP00000378019:L488V	ENSP00000311648:L488V	L	+	1	2	UGT8	115816729	0.145000	0.22656	0.972000	0.41901	0.994000	0.84299	-0.117000	0.10708	0.053000	0.16036	0.459000	0.35465	TTA		0.398	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		7	369	0	0	0	1	0	7	369				
DDX6	1656	broad.mit.edu	37	11	118625471	118625471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118625471G>A	ENST00000526070.2	-	13	1762	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	DDX6_ENST00000534980.1_Silent_p.L468L|DDX6_ENST00000264018.4_Silent_p.L468L	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	468	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GCCACATACAGGCTCTTATCA	0.428			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(1402-1404)Ctg>Ttg		DEAD (Asp-Glu-Ala-Asp) box helicase 6							162.0	155.0	157.0					11																	118625471		1865	4099	5964	SO:0001819	synonymous_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118625471G>A	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1402C>T	11.37:g.118625471G>A						DDX6_ENST00000534980.1_Silent_p.L468L|DDX6_ENST00000526070.2_Silent_p.L468L	p.L468L	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	13	1707	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	468			Helicase C-terminal.		Q5D048	Silent	SNP	ENST00000526070.2	37	c.1402C>T	CCDS44751.1																																																																																				0.428	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		115	584	0	0	0	1	0	115	584				
PITRM1	10531	broad.mit.edu	37	10	3189841	3189841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3189841G>A	ENST00000224949.4	-	19	2192	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	PITRM1_ENST00000451104.2_Silent_p.L622L|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Silent_p.L721L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.L278L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	720					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GATGCGTACAGGTGCCCAGAG	0.592																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2161-2163)Ctg>Ttg		pitrilysin metallopeptidase 1							89.0	98.0	95.0					10																	3189841		1970	4164	6134	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189841G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2158C>T	10.37:g.3189841G>A						PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Silent_p.L622L|PITRM1_ENST00000380994.1_Silent_p.L278L|PITRM1_ENST00000224949.4_Silent_p.L720L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	p.L721L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			19	2199	-			622					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.2161C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	0.707	-0.788759	0.02884	.	.	ENSG00000107959	ENST00000451454	.	.	.	5.69	-0.0268	0.13929	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.28860	N	0.895545	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	.	0.1444	0.00087	0.2899:0.2552:0.2051:0.2499	.	.	.	.	L	53	.	.	P	-	2	0	PITRM1	3179841	0.855000	0.29742	0.305000	0.25099	0.020000	0.10135	-0.105000	0.10907	0.337000	0.23665	0.561000	0.74099	CCT		0.592	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			60	652	0	0	0	1	0	60	652				
STIL	6491	broad.mit.edu	37	1	47753293	47753293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47753293G>A	ENST00000360380.3	-	11	1426	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	STIL_ENST00000337817.5_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L|STIL_ENST00000371877.3_Silent_p.L355L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	355					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCAGCGCTCAGTTCACAACGG	0.343																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1063-1065)Ctg>Ttg		SCL/TAL1 interrupting locus							66.0	64.0	65.0					1																	47753293		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47753293G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1063C>T	1.37:g.47753293G>A						STIL_ENST00000337817.5_Silent_p.L355L|STIL_ENST00000371877.3_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L	p.L355L			Q15468	STIL_HUMAN			11	1426	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	355					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.1063C>T	CCDS548.1																																																																																				0.343	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		22	115	0	0	0	1	0	22	115				
DSCC1	79075	broad.mit.edu	37	8	120855907	120855907	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855907A>G	ENST00000313655.4	-	5	872	c.658T>C	c.(658-660)Tct>Cct	p.S220P		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	220					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACCAAAAGACCATGATTCA	0.358																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(658-660)Tct>Cct		DNA replication and sister chromatid cohesion 1							154.0	165.0	161.0					8																	120855907		2203	4300	6503	SO:0001583	missense	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120855907A>G		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.658T>C	8.37:g.120855907A>G	ENSP00000322180:p.Ser220Pro						p.S220P	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	872	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		220					Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	c.658T>C	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	A	6.220	0.408665	0.11812	.	.	ENSG00000136982	ENST00000313655	T	0.47177	0.85	5.29	1.58	0.23477	.	0.149499	0.64402	D	0.000007	T	0.28499	0.0705	L	0.29908	0.895	0.49687	D	0.999818	B	0.17465	0.022	B	0.20955	0.032	T	0.04440	-1.0951	10	0.21540	T	0.41	-8.5604	4.4856	0.11788	0.5833:0.1665:0.2502:0.0	.	220	Q9BVC3	DCC1_HUMAN	P	220	ENSP00000322180:S220P	ENSP00000322180:S220P	S	-	1	0	DSCC1	120925088	0.999000	0.42202	0.993000	0.49108	0.387000	0.30353	0.837000	0.27558	0.405000	0.25532	-0.321000	0.08615	TCT		0.358	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		152	766	0	0	0	1	0	152	766				
ZNF239	8187	broad.mit.edu	37	10	44053455	44053455	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053455G>A	ENST00000306006.6	-	2	725	c.73C>T	c.(73-75)Cta>Tta	p.L25L	ZNF239_ENST00000426961.1_Silent_p.L25L|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Silent_p.L25L|ZNF239_ENST00000535642.1_Silent_p.L25L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAAATATCTAGTTCAGGCTCC	0.458																																						ENST00000306006.6																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(73-75)Cta>Tta		zinc finger protein 239							74.0	69.0	71.0					10																	44053455		1927	4103	6030	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053455G>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.73C>T	10.37:g.44053455G>A						ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Silent_p.L25L|ZNF239_ENST00000374446.2_Silent_p.L25L|ZNF239_ENST00000535642.1_Silent_p.L25L	p.L25L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN			2	725	-			25					Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	37	c.73C>T	CCDS41502.1																																																																																				0.458	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			7	240	0	0	0	1	0	7	240				
ARID2	196528	broad.mit.edu	37	12	46230589	46230589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46230589G>A	ENST00000334344.6	+	8	1010	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ARID2_ENST00000422737.1_Missense_Mutation_p.D131N|ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	280					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGGCATTAACGATATTGAAGG	0.393			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(838-840)Gat>Aat		AT rich interactive domain 2 (ARID, RFX-like)							146.0	146.0	146.0					12																	46230589		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46230589G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.838G>A	12.37:g.46230589G>A	ENSP00000335044:p.Asp280Asn					ARID2_ENST00000422737.1_Missense_Mutation_p.D131N|ARID2_ENST00000479608.1_3'UTR	p.D280N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	8	1010	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	280					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.838G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180385	0.94846	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.52754	0.65;0.65	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67047	-0.5769	10	0.72032	D	0.01	-13.3765	20.2009	0.98259	0.0:0.0:1.0:0.0	.	280	Q68CP9	ARID2_HUMAN	N	280;131	ENSP00000335044:D280N;ENSP00000415650:D131N	ENSP00000335044:D280N	D	+	1	0	ARID2	44516856	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.822000	0.99363	2.767000	0.95098	0.591000	0.81541	GAT		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		13	503	0	0	0	1	0	13	503				
DRGX	644168	broad.mit.edu	37	10	50599296	50599296	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50599296A>T	ENST00000374139.2	-	2	56	c.46T>A	c.(46-48)Ttt>Att	p.F16I	DRGX_ENST00000434016.1_Missense_Mutation_p.F21I			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	16					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TGATTGCCAAAGGTTGCAGTG	0.567																																						ENST00000374139.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						c.(46-48)Ttt>Att		dorsal root ganglia homeobox							36.0	37.0	37.0					10																	50599296		1907	4111	6018	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50599296A>T		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.46T>A	10.37:g.50599296A>T	ENSP00000363254:p.Phe16Ile					DRGX_ENST00000434016.1_Missense_Mutation_p.F21I	p.F16I			C9JW76	C9JW76_HUMAN			2	56	-			21						Missense_Mutation	SNP	ENST00000374139.2	37	c.46T>A		.	.	.	.	.	.	.	.	.	.	A	25.9	4.687933	0.88639	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95518	-3.73;-2.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.95023	0.8162	10	0.34782	T	0.22	.	16.17	0.81801	1.0:0.0:0.0:0.0	.	21	C9JW76	.	I	16;21	ENSP00000363254:F16I;ENSP00000401653:F21I	ENSP00000363254:F16I	F	-	1	0	DRGX	50269302	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	8.575000	0.90766	2.224000	0.72417	0.459000	0.35465	TTT		0.567	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		17	84	0	0	0	1	0	17	84				
ACSL3	2181	broad.mit.edu	37	2	223783810	223783810	+	Missense_Mutation	SNP	G	G	A	rs376738660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223783810G>A	ENST00000357430.3	+	7	1226	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	232					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R232Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCACGCCTGCGGCACATCATC	0.483			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		2	Substitution - Missense(2)	p.R232Q(2)	endometrium(2)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(694-696)cGg>cAg		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	115.0	98.0	104.0		695,695	4.8	1.0	2		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACSL3	NM_004457.3,NM_203372.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	232/721,232/721	223783810	1,13005	2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223783810G>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.695G>A	2.37:g.223783810G>A	ENSP00000350012:p.Arg232Gln					AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q	p.R232Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	7	1226	+		Renal(207;0.0183)	232					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.695G>A	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196268	0.58126	0.0	1.16E-4	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.41400	2.81;2.81;1.0	5.65	4.77	0.60923	AMP-dependent synthetase/ligase (1);	0.118921	0.64402	D	0.000015	T	0.25457	0.0619	N	0.08118	0	0.48511	D	0.999661	B	0.23316	0.083	B	0.19148	0.024	T	0.04781	-1.0927	10	0.46703	T	0.11	-10.7174	14.5474	0.68041	0.0702:0.0:0.9298:0.0	.	232	O95573	ACSL3_HUMAN	Q	232;232;80	ENSP00000350012:R232Q;ENSP00000375918:R232Q;ENSP00000441643:R80Q	ENSP00000350012:R232Q	R	+	2	0	ACSL3	223492054	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.937000	0.70162	1.402000	0.46780	-0.136000	0.14681	CGG		0.483	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		67	218	0	0	0	1	0	67	218				
ZNF492	57615	broad.mit.edu	37	19	22847814	22847814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847814C>A	ENST00000456783.2	+	4	1587	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGAGAGAAGCCCTACAAATAT	0.388																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1342-1344)cCc>cAc		zinc finger protein 492							36.0	52.0	47.0					19																	22847814		2045	4233	6278	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847814C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1343C>A	19.37:g.22847814C>A	ENSP00000413660:p.Pro448His						p.P448H	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1587	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	448					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1343C>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.417579	0.25552	.	.	ENSG00000229676	ENST00000456783	T	0.29397	1.57	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61578	0.2358	H	0.95365	3.66	0.09310	N	1	D	0.89917	1.0	D	0.70716	0.97	T	0.50600	-0.8809	9	0.87932	D	0	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	448	Q9P255	ZN492_HUMAN	H	448	ENSP00000413660:P448H	ENSP00000413660:P448H	P	+	2	0	ZNF492	22639654	0.050000	0.20438	0.059000	0.19551	0.059000	0.15707	1.365000	0.34182	0.269000	0.21961	0.274000	0.19336	CCC		0.388	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		29	345	1	0	6.38683e-12	1	6.83756e-12	29	345				
COLEC12	81035	broad.mit.edu	37	18	480749	480749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:480749C>T	ENST00000400256.3	-	2	223	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	6					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTCCTCTGCGAAGTCGTCT	0.552																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(16-18)Gca>Aca		collectin sub-family member 12							181.0	121.0	141.0					18																	480749		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:480749C>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.16G>A	18.37:g.480749C>T	ENSP00000383115:p.Ala6Thr						p.A6T	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			2	223	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	6					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.16G>A	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984474	0.53934	.	.	ENSG00000158270	ENST00000400256	D	0.89196	-2.48	5.77	4.89	0.63831	.	0.336780	0.30547	N	0.009382	D	0.89550	0.6747	L	0.27053	0.805	0.40126	D	0.976664	D	0.76494	0.999	D	0.68621	0.959	D	0.89636	0.3859	10	0.44086	T	0.13	-8.4186	12.7129	0.57100	0.0:0.8346:0.1654:0.0	.	6	Q5KU26	COL12_HUMAN	T	6	ENSP00000383115:A6T	ENSP00000383115:A6T	A	-	1	0	COLEC12	470749	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	2.657000	0.46724	1.409000	0.46915	0.650000	0.86243	GCA		0.552	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			67	264	0	0	0	1	0	67	264				
MICALL1	85377	broad.mit.edu	37	22	38323737	38323737	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38323737G>A	ENST00000215957.6	+	9	1911	c.1785G>A	c.(1783-1785)aaG>aaA	p.K595K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	595	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGCCAGCCAAGCCCTGCAGTG	0.642																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1783-1785)aaG>aaA		MICAL-like 1							68.0	76.0	73.0					22																	38323737		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323737G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1785G>A	22.37:g.38323737G>A						MICALL1_ENST00000402631.1_3'UTR	p.K595K	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			9	1911	+	Melanoma(58;0.045)		595			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.1785G>A	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032402	0.07543	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75079	0.3801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73723	-0.3893	4	.	.	.	.	19.1255	0.93382	0.0:0.0:1.0:0.0	.	.	.	.	T	173	.	.	A	+	1	0	MICALL1	36653683	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	3.334000	0.52097	2.513000	0.84729	0.555000	0.69702	GCC		0.642	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		163	709	0	0	0	1	0	163	709				
NR3C1	2908	broad.mit.edu	37	5	142675037	142675037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142675037G>T	ENST00000343796.2	-	7	3004	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I|NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	671	Interaction with CLOCK.|Interaction with CRY1.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GAAGAGAGAAGCAGTAAGGTT	0.363																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2011-2013)Ctt>Att		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						132.0	115.0	121.0					5																	142675037		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142675037G>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2011C>A	5.37:g.142675037G>T	ENSP00000343205:p.Leu671Ile					NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I	p.L671I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		7	3004	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	671			Steroid-binding.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.2011C>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091873	0.94149	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;T;D;D;D;D;D;D	0.97303	-4.33;-4.33;-0.01;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.86097	2.795	0.80722	D	1	D;P;D	0.76494	0.998;0.835;0.999	D;P;D	0.97110	1.0;0.891;0.998	D	0.99513	1.0956	10	0.87932	D	0	.	19.6697	0.95907	0.0:0.0:1.0:0.0	.	671;671;672	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	I	671;671;671;645;672;672;672;274;671	ENSP00000377977:L671I;ENSP00000343205:L671I;ENSP00000387672:L671I;ENSP00000405282:L645I;ENSP00000422518:L672I;ENSP00000377979:L672I;ENSP00000231509:L672I;ENSP00000404218:L274I;ENSP00000427672:L671I	ENSP00000231509:L672I	L	-	1	0	NR3C1	142655230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.649000	0.89929	0.585000	0.79938	CTT		0.363	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			53	213	1	0	3.76628e-20	1	4.21522e-20	53	213				
TTN	7273	broad.mit.edu	37	2	179463744	179463744	+	Missense_Mutation	SNP	C	C	T	rs572453785		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179463744C>T	ENST00000591111.1	-	241	51994	c.51770G>A	c.(51769-51771)cGt>cAt	p.R17257H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18898H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17257	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CATGGAGTTACGAGTCACGCT	0.418													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19231	0.0		0.0	False		,,,				2504	0.0					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.(56692-56694)cGt>cAt		titin							58.0	56.0	57.0					2																	179463744		1883	4105	5988	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463744C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51770G>A	2.37:g.179463744C>T	ENSP00000465570:p.Arg17257His					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R17257H	p.R18898H	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)		291	56917	-			17257			Ig-like 107.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.56693G>A		.	.	.	.	.	.	.	.	.	.	C	12.34	1.908815	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41650	0.1168	L	0.27053	0.805	0.27011	N	0.964683	B;B;B;B	0.18863	0.031;0.031;0.031;0.031	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.32693	-0.9897	9	0.87932	D	0	.	10.7507	0.46207	0.0:0.8595:0.0:0.1405	.	9833;9958;10025;17257	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16330;9833;10025;9958;9831	ENSP00000343764:R16330H;ENSP00000434586:R9833H;ENSP00000340554:R10025H;ENSP00000352154:R9958H	ENSP00000340554:R10025H	R	-	2	0	TTN	179171989	0.955000	0.32602	1.000000	0.80357	0.996000	0.88848	1.826000	0.39092	2.843000	0.97960	0.650000	0.86243	CGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	251	0	0	0	1	0	28	251				
HACE1	57531	broad.mit.edu	37	6	105198346	105198346	+	Splice_Site	SNP	G	G	A	rs374813736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198346G>A	ENST00000262903.4	-	20	2489	c.2213C>T	c.(2212-2214)gCg>gTg	p.A738V	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Splice_Site_p.A523V	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	738	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GACGTACTCCGCCTGTTGAAA	0.338																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.e20-1		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1		G	VAL/ALA	0,4406		0,0,2203	82.0	75.0	78.0		2213	4.1	1.0	6		78	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	HACE1	NM_020771.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	738/910	105198346	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198346G>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2212-1C>T	6.37:g.105198346G>A						HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Splice_Site_p.A523_splice	p.A738_splice	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2489	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	738			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Splice_Site	SNP	ENST00000262903.4	37	c.2211_splice	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001598	0.35320	0.0	1.16E-4	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.58358	0.34;0.34	5.0	4.11	0.48088	HECT (4);	0.104471	0.64402	D	0.000004	T	0.27205	0.0667	N	0.21545	0.675	0.28259	N	0.924912	P;B;D;D	0.56035	0.67;0.318;0.974;0.968	P;B;P;B	0.46917	0.531;0.083;0.469;0.339	T	0.09684	-1.0663	10	0.27082	T	0.32	.	14.9715	0.71238	0.0:0.0:0.8559:0.1441	.	523;227;738;391	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	V	738;523	ENSP00000262903:A738V;ENSP00000358121:A523V	ENSP00000262903:A738V	A	-	2	0	HACE1	105305039	1.000000	0.71417	0.983000	0.44433	0.822000	0.46500	6.021000	0.70832	1.196000	0.43129	0.563000	0.77884	GCG		0.338	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	Missense_Mutation	36	144	0	0	0	1	0	36	144				
LPO	4025	broad.mit.edu	37	17	56342265	56342265	+	Missense_Mutation	SNP	G	G	T	rs552696726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56342265G>T	ENST00000262290.4	+	10	1765	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	LPO_ENST00000582328.1_Missense_Mutation_p.Q400H|LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000421678.2_Missense_Mutation_p.Q400H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	483					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGAATTATCAGCCATGGGGGC	0.522																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1447-1449)caG>caT		lactoperoxidase							98.0	79.0	86.0					17																	56342265		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56342265G>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1449G>T	17.37:g.56342265G>T	ENSP00000262290:p.Gln483His					LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000582328.1_Missense_Mutation_p.Q400H|LPO_ENST00000421678.2_Missense_Mutation_p.Q400H	p.Q483H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			10	1765	+			483					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1449G>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020350	0.54576	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73363	-0.74;-0.74;-0.74	6.17	3.16	0.36331	.	0.304519	0.34750	N	0.003712	T	0.76385	0.3980	M	0.72479	2.2	0.36809	D	0.885762	B;P	0.42735	0.452;0.788	B;P	0.46659	0.36;0.523	T	0.79848	-0.1630	10	0.72032	D	0.01	-13.7066	10.9003	0.47047	0.2004:0.0:0.7996:0.0	.	400;483	E7EMJ3;P22079	.;PERL_HUMAN	H	483;400;424;228	ENSP00000262290:Q483H;ENSP00000400245:Q400H;ENSP00000445344:Q424H	ENSP00000262290:Q483H	Q	+	3	2	LPO	53697264	0.467000	0.25831	0.997000	0.53966	0.980000	0.70556	0.126000	0.15769	0.500000	0.27991	0.655000	0.94253	CAG		0.522	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			66	218	1	0	8.3131e-28	1	9.64569e-28	66	218				
KMT2D	8085	broad.mit.edu	37	12	49420094	49420094	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420094G>T	ENST00000301067.7	-	48	15654	c.15655C>A	c.(15655-15657)Ctc>Atc	p.L5219I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5219	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGGTGCGGAGGCTCCAATAG	0.582																																						ENST00000301067.7																			0											c.(15655-15657)Ctc>Atc		lysine (K)-specific methyltransferase 2D							54.0	58.0	57.0					12																	49420094		2065	4199	6264	SO:0001583	missense	8085							g.chr12:49420094G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15655C>A	12.37:g.49420094G>T	ENSP00000301067:p.Leu5219Ile						p.L5219I	NM_003482.3	NP_003473.3					48	15654	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15655C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566172	0.27915	.	.	ENSG00000167548	ENST00000301067	T	0.76839	-1.05	5.12	3.2	0.36748	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.33180	N	0.005184	T	0.62146	0.2404	N	0.11560	0.145	0.25193	N	0.99012	P	0.49559	0.925	P	0.48270	0.572	T	0.56703	-0.7935	10	0.87932	D	0	.	5.1841	0.15174	0.1356:0.0:0.5375:0.327	.	5219	O14686	MLL2_HUMAN	I	5219	ENSP00000301067:L5219I	ENSP00000301067:L5219I	L	-	1	0	MLL2	47706361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.914000	0.39966	1.254000	0.44035	0.655000	0.94253	CTC		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			51	278	1	0	2.29192e-23	1	2.60423e-23	51	278				
PDZD2	23037	broad.mit.edu	37	5	32088716	32088716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32088716C>T	ENST00000438447.1	+	20	5550	c.5162C>T	c.(5161-5163)cCg>cTg	p.P1721L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1721					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTCACAGTCCGCCCATCATT	0.498																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5161-5163)cCg>cTg		PDZ domain containing 2							117.0	97.0	104.0					5																	32088716		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088716C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5162C>T	5.37:g.32088716C>T	ENSP00000402033:p.Pro1721Leu					PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L	p.P1721L			O15018	PDZD2_HUMAN			20	5550	+			1721					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5162C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340517	0.24339	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07021	3.23;3.23	5.37	2.65	0.31530	.	0.898851	0.09563	N	0.785301	T	0.08447	0.0210	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37731	-0.9693	10	0.35671	T	0.21	.	7.4691	0.27338	0.0:0.7293:0.0:0.2707	.	1721	O15018	PDZD2_HUMAN	L	1721;1522;1721	ENSP00000402033:P1721L;ENSP00000282493:P1721L	ENSP00000282493:P1721L	P	+	2	0	PDZD2	32124473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.433000	0.21477	0.264000	0.21851	0.561000	0.74099	CCG		0.498	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			90	334	0	0	0	1	0	90	334				
PADI2	11240	broad.mit.edu	37	1	17410236	17410236	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17410236G>A	ENST00000375486.4	-	9	1098	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	345					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCAGCGATCGCCTCGGTTTA	0.532																																						ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(1033-1035)ggC>ggT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						117.0	112.0	114.0					1																	17410236		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17410236G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1035C>T	1.37:g.17410236G>A						PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	9	1098	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	345					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1035C>T	CCDS177.1																																																																																				0.532	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			50	351	0	0	0	1	0	50	351				
FCGBP	8857	broad.mit.edu	37	19	40433172	40433172	+	Missense_Mutation	SNP	G	G	A	rs368039528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433172G>A	ENST00000221347.6	-	2	1104	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	366	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCGCTGATAGCCTTCGTCTG	0.617																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1096-1098)gCt>gTt		Fc fragment of IgG binding protein		G	VAL/ALA	1,4405		0,1,2202	111.0	82.0	92.0		1097	0.9	0.0	19		92	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	366/5406	40433172	1,13005	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433172G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1097C>T	19.37:g.40433172G>A	ENSP00000221347:p.Ala366Val						p.A366V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1104	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		366			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.1097C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962481	0.53400	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.19250	2.16	4.36	0.89	0.19218	.	0.618007	0.13024	N	0.419844	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.42386	0.386	T	0.17806	-1.0357	10	0.56958	D	0.05	.	7.6149	0.28152	0.0814:0.0:0.6274:0.2912	.	366	Q9Y6R7	FCGBP_HUMAN	V	366	ENSP00000221347:A366V	ENSP00000221347:A366V	A	-	2	0	FCGBP	45125012	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	0.378000	0.20569	0.305000	0.22832	0.655000	0.94253	GCT		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	250	0	0	0	1	0	17	250				
CHD8	57680	broad.mit.edu	37	14	21894391	21894391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21894391G>A	ENST00000557364.1	-	5	1875	c.1612C>T	c.(1612-1614)Cct>Tct	p.P538S	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S|CHD8_ENST00000399982.2_Missense_Mutation_p.P538S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	538					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCACTACAGGAGTGATGGTG	0.353																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1612-1614)Cct>Tct		chromodomain helicase DNA binding protein 8							85.0	72.0	76.0					14																	21894391		1856	4105	5961	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21894391G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1612C>T	14.37:g.21894391G>A	ENSP00000451601:p.Pro538Ser					CHD8_ENST00000557364.1_Missense_Mutation_p.P538S|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S|CHD8_ENST00000555962.1_Intron	p.P538S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	4	1676	-	all_cancers(95;0.00121)		538					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1612C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874985	0.51695	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88818	-2.4;-2.43;-2.43	5.58	5.58	0.84498	.	0.060955	0.64402	D	0.000002	D	0.86322	0.5905	N	0.19112	0.55	0.50632	D	0.999885	P	0.50443	0.935	P	0.52881	0.712	T	0.82647	-0.0354	10	0.10636	T	0.68	-11.8128	18.349	0.90331	0.0:0.0:1.0:0.0	.	259	Q9HCK8-2	.	S	259;538;258;538	ENSP00000406288:P259S;ENSP00000382863:P538S;ENSP00000451601:P538S	ENSP00000262707:P258S	P	-	1	0	CHD8	20964231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.625000	0.88918	0.591000	0.81541	CCT		0.353	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	72	0	0	0	1	0	8	72				
CCT2	10576	broad.mit.edu	37	12	69991508	69991508	+	Missense_Mutation	SNP	C	C	T	rs201201152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991508C>T	ENST00000299300.6	+	12	1381	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	CCT2_ENST00000543146.2_Missense_Mutation_p.A351V|CCT2_ENST00000544368.2_Missense_Mutation_p.A398V	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	398					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGTGTTCTTGCGCAAACTGTA	0.333																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(1051-1053)gCg>gTg		chaperonin containing TCP1, subunit 2 (beta)		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	88.0	89.0		1052,1193	5.9	1.0	12		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CCT2	NM_001198842.1,NM_006431.2	64,64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	351/489,398/536	69991508	3,13003	2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69991508C>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1193C>T	12.37:g.69991508C>T	ENSP00000299300:p.Ala398Val					CCT2_ENST00000299300.6_Missense_Mutation_p.A398V|CCT2_ENST00000544368.2_Missense_Mutation_p.A398V	p.A351V	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		12	1534	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		398					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.1052C>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957341	0.53400	2.27E-4	2.33E-4	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.79141	-1.24;-1.24;-1.24	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	L	0.38175	1.15	0.80722	D	1	B;B	0.34103	0.437;0.26	B;B	0.16722	0.015;0.016	T	0.65071	-0.6257	9	.	.	.	-33.0295	20.2985	0.98592	0.0:1.0:0.0:0.0	.	398;398	F5GWF6;P78371	.;TCPB_HUMAN	V	398;398;351	ENSP00000299300:A398V;ENSP00000441847:A398V;ENSP00000445471:A351V	.	A	+	2	0	CCT2	68277775	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	7.435000	0.80391	2.793000	0.96121	0.655000	0.94253	GCG		0.333	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		10	362	0	0	0	1	0	10	362				
GRIN3B	116444	broad.mit.edu	37	19	1005113	1005113	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005113G>A	ENST00000234389.3	+	3	1632	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	538					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACTCCGCCCGCTCACAGGTG	0.687																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1612-1614)cGc>cAc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						41.0	37.0	38.0					19																	1005113		2203	4299	6502	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005113G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1613G>A	19.37:g.1005113G>A	ENSP00000234389:p.Arg538His					GRIN3B_ENST00000588335.1_3'UTR	p.R538H	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1632	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	538					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1613G>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263363	0.80358	.	.	ENSG00000116032	ENST00000234389	T	0.70749	-0.51	4.53	4.53	0.55603	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	H	0.96111	3.77	0.47621	D	0.999475	D	0.89917	1.0	D	0.97110	1.0	D	0.92716	0.6187	10	0.87932	D	0	.	15.8728	0.79136	0.0:0.0:1.0:0.0	.	538	O60391	NMD3B_HUMAN	H	538	ENSP00000234389:R538H	ENSP00000234389:R538H	R	+	2	0	GRIN3B	956113	1.000000	0.71417	0.932000	0.37286	0.960000	0.62799	9.675000	0.98638	2.100000	0.63781	0.485000	0.47835	CGC		0.687	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			6	310	0	0	0	1	0	6	310				
PKN1	5585	broad.mit.edu	37	19	14578761	14578761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14578761C>T	ENST00000242783.6	+	15	2123	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GACATTGTGGCCCGAGACGAG	0.587																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1957-1959)gCc>gTc		protein kinase N1							43.0	46.0	45.0					19																	14578761		1932	4127	6059	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14578761C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1958C>T	19.37:g.14578761C>T	ENSP00000242783:p.Ala653Val					PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	p.A653V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			15	2123	+			653			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1958C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361481	0.82353	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65732	-0.17;-0.17	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000007	T	0.61211	0.2329	N	0.11023	0.085	0.40078	D	0.976102	D;D	0.59767	0.982;0.986	P;D	0.64144	0.873;0.922	T	0.69818	-0.5042	10	0.72032	D	0.01	-7.1948	15.3299	0.74200	0.0:1.0:0.0:0.0	.	659;653	Q16512-2;Q16512	.;PKN1_HUMAN	V	653;659	ENSP00000242783:A653V;ENSP00000343325:A659V	ENSP00000242783:A653V	A	+	2	0	PKN1	14439761	0.994000	0.37717	1.000000	0.80357	0.964000	0.63967	3.566000	0.53805	2.555000	0.86185	0.561000	0.74099	GCC		0.587	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		66	195	0	0	0	1	0	66	195				
CCT3	7203	broad.mit.edu	37	1	156288797	156288797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156288797G>A	ENST00000295688.3	-	8	901	c.621C>T	c.(619-621)ggC>ggT	p.G207G	CCT3_ENST00000472765.2_Silent_p.G162G|CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000368261.3_Silent_p.G162G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	207					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCAATGATGCCTCCAGGTA	0.443																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(619-621)ggC>ggT		chaperonin containing TCP1, subunit 3 (gamma)							75.0	72.0	73.0					1																	156288797		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156288797G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.621C>T	1.37:g.156288797G>A						CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000368261.3_Silent_p.G162G|CCT3_ENST00000472765.2_Silent_p.G162G	p.G207G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			8	901	-	Hepatocellular(266;0.158)		207					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.621C>T	CCDS1140.2																																																																																				0.443	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		28	259	0	0	0	1	0	28	259				
MFSD6	54842	broad.mit.edu	37	2	191301736	191301736	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191301736G>A	ENST00000392328.1	+	3	1305	c.981G>A	c.(979-981)caG>caA	p.Q327Q	MFSD6_ENST00000281416.7_Silent_p.Q327Q	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	327					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ATGGGTTGCAGCGCATGTGGG	0.532																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(979-981)caG>caA		major facilitator superfamily domain containing 6							108.0	108.0	108.0					2																	191301736		2203	4300	6503	SO:0001819	synonymous_variant	54842				transmembrane transport	integral to membrane		g.chr2:191301736G>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.981G>A	2.37:g.191301736G>A						MFSD6_ENST00000281416.7_Silent_p.Q327Q	p.Q327Q	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1305	+			327					D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	37	c.981G>A	CCDS2306.1																																																																																				0.532	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			209	573	0	0	0	1	0	209	573				
MUC15	143662	broad.mit.edu	37	11	26582721	26582721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26582721G>T	ENST00000455601.2	-	4	1014	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.S326Y|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	299					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGTAGCTAGAATTCCCAAA	0.383																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(976-978)tCt>tAt		mucin 15, cell surface associated							154.0	139.0	144.0					11																	26582721		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26582721G>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.896C>A	11.37:g.26582721G>T	ENSP00000397339:p.Ser299Tyr					MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.S299Y|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron	p.S326Y			Q8N387	MUC15_HUMAN			4	1110	-			299					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.977C>A	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867333	0.72065	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.28255	1.64;1.62;1.63;1.62;1.63	5.43	5.43	0.79202	.	0.000000	0.49305	D	0.000143	T	0.43055	0.1230	L	0.32530	0.975	0.32851	D	0.506659	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74023	0.982;0.948;0.971	T	0.53486	-0.8432	10	0.72032	D	0.01	-17.9456	12.5049	0.55975	0.0811:0.0:0.9189:0.0	.	276;299;326	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	Y	299;326;276;326;276	ENSP00000397339:S299Y;ENSP00000416753:S326Y;ENSP00000281268:S276Y;ENSP00000431983:S326Y;ENSP00000431945:S276Y	ENSP00000281268:S276Y	S	-	2	0	MUC15	26539297	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.813000	0.55636	2.708000	0.92522	0.591000	0.81541	TCT		0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		52	186	1	0	1.30916e-28	1	1.52443e-28	52	186				
ABHD16A	7920	broad.mit.edu	37	6	31659391	31659391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31659391G>A	ENST00000395952.3	-	9	970	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ABHD16A_ENST00000440843.2_Missense_Mutation_p.R237W|ABHD16A_ENST00000375842.4_Missense_Mutation_p.R51W|ABHD16A_ENST00000471644.1_5'Flank|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	270						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GTCCCCCGCCGGTCCACAAAC	0.597																																						ENST00000375842.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(151-153)Cgg>Tgg		abhydrolase domain containing 16A							62.0	57.0	59.0					6																	31659391		1510	2709	4219	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31659391G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.808C>T	6.37:g.31659391G>A	ENSP00000379282:p.Arg270Trp					ABHD16A_ENST00000395952.3_Missense_Mutation_p.R270W|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.R237W	p.R51W			O95870	ABHGA_HUMAN			9	1137	-			270					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.151C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546342	0.96488	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78937	-0.2007	9	0.62326	D	0.03	-28.2409	17.3305	0.87262	0.0:0.0:1.0:0.0	.	237;270	B7Z4R6;O95870	.;ABHGA_HUMAN	W	270;51;237	.	ENSP00000365002:R51W	R	-	1	2	ABHD16A	31767370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.502000	0.73695	2.763000	0.94921	0.650000	0.86243	CGG		0.597	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			39	168	0	0	0	1	0	39	168				
VAC14	55697	broad.mit.edu	37	16	70818699	70818699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70818699G>A	ENST00000261776.5	-	4	726	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	156					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CGGTCTAGGAGCTCAGATCCG	0.498																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(466-468)Ctc>Ttc		Vac14 homolog (S. cerevisiae)							118.0	126.0	123.0					16																	70818699		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70818699G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.466C>T	16.37:g.70818699G>A	ENSP00000261776:p.Leu156Phe						p.L156F	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			4	726	-		Ovarian(137;0.0699)	156					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.466C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540889	0.85917	.	.	ENSG00000103043	ENST00000261776	D	0.97665	-4.48	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97880	1.0291	10	0.59425	D	0.04	-28.1775	12.4816	0.55847	0.0762:0.0:0.9237:0.0	.	156	Q08AM6	VAC14_HUMAN	F	156	ENSP00000261776:L156F	ENSP00000261776:L156F	L	-	1	0	VAC14	69376200	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.850000	0.69473	2.531000	0.85337	0.563000	0.77884	CTC		0.498	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		142	656	0	0	0	1	0	142	656				
TOMM70A	9868	broad.mit.edu	37	3	100103350	100103350	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100103350T>A	ENST00000284320.5	-	4	1156	c.708A>T	c.(706-708)ggA>ggT	p.G236G		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	236					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTTCTCTTTTCCAAGGAGTT	0.358																																						ENST00000284320.5																			0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(706-708)ggA>ggT		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							125.0	125.0	125.0					3																	100103350		2202	4300	6502	SO:0001819	synonymous_variant	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100103350T>A	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.708A>T	3.37:g.100103350T>A							p.G236G	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN			4	1156	-			236					D3DN48	Silent	SNP	ENST00000284320.5	37	c.708A>T	CCDS33807.1																																																																																				0.358	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			68	333	0	0	0	1	0	68	333				
ICE1	23379	broad.mit.edu	37	5	5489440	5489440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5489440C>T	ENST00000296564.7	+	19	7020	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2266					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGAGCTTGGCTGACCTGGGA	0.498																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(6796-6798)ggC>ggT		KIAA0947							35.0	37.0	36.0					5																	5489440		2059	4207	6266	SO:0001819	synonymous_variant	23379							g.chr5:5489440C>T																												ENST00000296564.7:c.6798C>T	5.37:g.5489440C>T							p.G2266G	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			19	7020	+			2266					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.6798C>T	CCDS47187.1																																																																																				0.498	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			14	75	0	0	0	1	0	14	75				
ZUFSP	221302	broad.mit.edu	37	6	116988313	116988313	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116988313G>T	ENST00000368576.3	-	2	286	c.43C>A	c.(43-45)Cca>Aca	p.P15T	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	15							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTCATGTCTGGTTCTGAGGTT	0.328																																						ENST00000368576.3																			0				NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(43-45)Cca>Aca		zinc finger with UFM1-specific peptidase domain							78.0	79.0	78.0					6																	116988313		2197	4297	6494	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116988313G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.43C>A	6.37:g.116988313G>T	ENSP00000357565:p.Pro15Thr					ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T|ZUFSP_ENST00000471919.1_Intron	p.P15T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	2	286	-			15					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.43C>A	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474248	0.26423	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.41758	0.99;1.69	5.94	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.556492	0.20197	N	0.097170	T	0.12220	0.0297	L	0.46157	1.445	0.26349	N	0.977233	B	0.27013	0.166	B	0.28916	0.096	T	0.21965	-1.0230	10	0.30854	T	0.27	-7.5367	1.1741	0.01832	0.2616:0.1504:0.4327:0.1552	.	15	Q96AP4	ZUFSP_HUMAN	T	15	ENSP00000357565:P15T;ENSP00000357562:P15T	ENSP00000357562:P15T	P	-	1	0	ZUFSP	117095006	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.902000	0.28459	0.350000	0.24002	-0.367000	0.07326	CCA		0.328	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		79	378	1	0	2.05912e-35	1	2.45818e-35	79	378				
PAG1	55824	broad.mit.edu	37	8	81889134	81889134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81889134G>T	ENST00000220597.4	-	9	1654	c.944C>A	c.(943-945)gCt>gAt	p.A315D	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	315					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGAGTACATAGCTGAGATCTA	0.473																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(943-945)gCt>gAt		phosphoprotein associated with glycosphingolipid microdomains 1							86.0	91.0	90.0					8																	81889134		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81889134G>T	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.944C>A	8.37:g.81889134G>T	ENSP00000220597:p.Ala315Asp						p.A315D	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		9	1654	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		315					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.944C>A	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827193	0.90955	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.53	5.53	0.82687	.	0.119572	0.56097	D	0.000027	T	0.77329	0.4114	M	0.67953	2.075	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.71813	-0.4479	9	0.20519	T	0.43	-15.1381	19.0444	0.93013	0.0:0.0:1.0:0.0	.	315	Q9NWQ8	PAG1_HUMAN	D	315	.	ENSP00000220597:A315D	A	-	2	0	PAG1	82051689	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.973000	0.76116	2.604000	0.88044	0.655000	0.94253	GCT		0.473	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		86	363	1	0	1.26458e-31	1	1.48988e-31	86	363				
SEZ6L	23544	broad.mit.edu	37	22	26761510	26761510	+	Silent	SNP	C	C	T	rs149968977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26761510C>T	ENST00000248933.6	+	13	2867	c.2772C>T	c.(2770-2772)aaC>aaT	p.N924N	SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000529632.2_Silent_p.N924N|SEZ6L_ENST00000402979.1_Silent_p.N697N|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000404234.3_Silent_p.N924N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	924	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCACTGGAACGGGCCCCTGC	0.577																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2770-2772)aaC>aaT		seizure related 6 homolog (mouse)-like		C	,,,,,	0,4406		0,0,2203	68.0	63.0	65.0		2772,2772,2772,2580,,2772	-2.9	1.0	22	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	924/1024,924/1014,924/1012,860/950,,924/1025	26761510	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26761510C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2772C>T	22.37:g.26761510C>T						SEZ6L_ENST00000248933.6_Silent_p.N924N|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Silent_p.N924N|SEZ6L_ENST00000402979.1_Silent_p.N697N	p.N924N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			13	2968	+			924			Sushi 5.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.2772C>T	CCDS13833.1																																																																																				0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			41	230	0	0	0	1	0	41	230				
HERC2P3	283755	broad.mit.edu	37	15	20645841	20645841	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20645841G>A	ENST00000428453.1	-	0	2924							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGAGCGATGCTCTGCACAA	0.602																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															56.0	38.0	44.0					15																	20645841		2198	4272	6470			0							g.chr15:20645841G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20645841G>A														0	2924	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.602	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		30	193	0	0	0	1	0	30	193				
FAM208B	54906	broad.mit.edu	37	10	5788959	5788959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788959G>A	ENST00000328090.5	+	15	4200	c.3575G>A	c.(3574-3576)gGc>gAc	p.G1192D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1192																	AGTCTCCTCGGCCTATCTTCA	0.463																																						ENST00000328090.5																			0											c.(3574-3576)gGc>gAc		family with sequence similarity 208, member B							86.0	89.0	88.0					10																	5788959		2005	4177	6182	SO:0001583	missense	54906							g.chr10:5788959G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3575G>A	10.37:g.5788959G>A	ENSP00000328426:p.Gly1192Asp						p.G1192D	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	4200	+			1192					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.3575G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	7.394	0.631396	0.14322	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04502	3.61	5.67	4.75	0.60458	.	0.080279	0.53938	D	0.000052	T	0.04770	0.0129	L	0.34521	1.04	0.09310	N	1	B	0.23058	0.079	B	0.14023	0.01	T	0.35051	-0.9804	10	0.29301	T	0.29	.	12.5872	0.56424	0.0:0.1669:0.8331:0.0	.	1192	Q5VWN6	F208B_HUMAN	D	1192;387	ENSP00000328426:G1192D	ENSP00000328426:G1192D	G	+	2	0	C10orf18	5828965	0.008000	0.16893	0.014000	0.15608	0.001000	0.01503	1.665000	0.37449	1.364000	0.46038	0.591000	0.81541	GGC		0.463	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		90	357	0	0	0	1	0	90	357				
MED1	5469	broad.mit.edu	37	17	37564749	37564749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37564749C>T	ENST00000300651.6	-	17	3948	c.3725G>A	c.(3724-3726)gGc>gAc	p.G1242D	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGACTTCATGCCAGAGCTTGA	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3724-3726)gGc>gAc		mediator complex subunit 1							89.0	88.0	88.0					17																	37564749		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564749C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3725G>A	17.37:g.37564749C>T	ENSP00000300651:p.Gly1242Asp	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.G1242D	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3948	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1242			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3725G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.054042	0.36277	.	.	ENSG00000125686	ENST00000300651	T	0.53423	0.62	5.35	4.38	0.52667	.	.	.	.	.	T	0.24353	0.0590	N	0.08118	0	0.38521	D	0.948728	B	0.27853	0.191	B	0.23275	0.045	T	0.12915	-1.0529	9	0.19147	T	0.46	-1.542	9.8581	0.41098	0.0:0.7876:0.1396:0.0728	.	1242	Q15648	MED1_HUMAN	D	1242	ENSP00000300651:G1242D	ENSP00000300651:G1242D	G	-	2	0	MED1	34818275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	1.620000	0.50308	0.655000	0.94253	GGC		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		73	296	0	0	0	1	0	73	296				
WWP2	11060	broad.mit.edu	37	16	69922018	69922018	+	Silent	SNP	C	C	A	rs145327694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69922018C>A	ENST00000359154.2	+	8	881	c.780C>A	c.(778-780)ccC>ccA	p.P260P	WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000356003.2_Silent_p.P260P|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	260					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCTGCACCCTTGAGTGTGA	0.557																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(778-780)ccC>ccA		WW domain containing E3 ubiquitin protein ligase 2							147.0	124.0	132.0					16																	69922018		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69922018C>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.780C>A	16.37:g.69922018C>A						WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000356003.2_Silent_p.P260P	p.P260P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			8	881	+			260					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.780C>A	CCDS10885.1																																																																																				0.557	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		105	486	1	0	3.88716e-44	1	4.75385e-44	105	486				
ATN1	1822	broad.mit.edu	37	12	7045981	7045981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045981C>T	ENST00000356654.4	+	5	1788	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	ATN1_ENST00000396684.2_Silent_p.H517H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	517	Involved in binding BAIAP2.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CATTTCCCCACCCACTGGAGG	0.657																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1549-1551)caC>caT		atrophin 1							66.0	68.0	67.0					12																	7045981		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045981C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1551C>T	12.37:g.7045981C>T						ATN1_ENST00000396684.2_Silent_p.H517H	p.H517H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1788	+			517			Involved in binding BAIAP2.		Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1551C>T	CCDS31734.1																																																																																				0.657	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		118	631	0	0	0	1	0	118	631				
AKAP13	11214	broad.mit.edu	37	15	86122939	86122939	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86122939A>G	ENST00000394518.2	+	7	1735	c.1640A>G	c.(1639-1641)aAa>aGa	p.K547R	AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	547					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGGTAACAAACCTGCTGAG	0.488																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(1639-1641)aAa>aGa		A kinase (PRKA) anchor protein 13							88.0	94.0	92.0					15																	86122939		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122939A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1640A>G	15.37:g.86122939A>G	ENSP00000378026:p.Lys547Arg					AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R|RP11-815J21.2_ENST00000561409.1_RNA	p.K547R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	1735	+			547					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.1640A>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567026	0.65651	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10382	2.88;2.88	5.87	-8.0	0.01126	.	.	.	.	.	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.10450	0.002;0.005	T	0.41945	-0.9480	9	0.21540	T	0.41	.	5.7191	0.17976	0.2046:0.5528:0.1386:0.1039	.	547;547	Q12802;Q12802-2	AKP13_HUMAN;.	R	547;547;546;546	ENSP00000354718:K547R;ENSP00000378026:K547R	ENSP00000354718:K547R	K	+	2	0	AKAP13	83923943	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-2.079000	0.01369	-1.133000	0.02903	0.533000	0.62120	AAA		0.488	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		112	503	0	0	0	1	0	112	503				
KRT39	390792	broad.mit.edu	37	17	39122912	39122912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39122912C>T	ENST00000355612.2	-	1	232	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	66	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGGCTTGCGACAAAAGCGAGG	0.527																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(196-198)tGt>tAt		keratin 39							194.0	195.0	195.0					17																	39122912		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39122912C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.197G>A	17.37:g.39122912C>T	ENSP00000347823:p.Cys66Tyr					AC004231.2_ENST00000418393.1_RNA	p.C66Y	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			1	232	-		Breast(137;0.00043)|Ovarian(249;0.15)	66			Head.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.197G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	8.048	0.765290	0.15914	.	.	ENSG00000196859	ENST00000355612	D	0.83755	-1.76	5.75	-2.35	0.06684	.	0.469201	0.18379	N	0.143013	T	0.56761	0.2007	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.44251	-0.9340	10	0.41790	T	0.15	.	1.8678	0.03202	0.1305:0.3436:0.1291:0.3967	.	66	Q6A163	K1C39_HUMAN	Y	66	ENSP00000347823:C66Y	ENSP00000347823:C66Y	C	-	2	0	KRT39	36376438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.579000	0.23788	-0.196000	0.10366	-0.142000	0.14014	TGT		0.527	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		76	944	0	0	0	1	0	76	944				
PPP1R18	170954	broad.mit.edu	37	6	30647026	30647026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30647026C>A	ENST00000274853.3	-	2	3628	c.1752G>T	c.(1750-1752)gaG>gaT	p.E584D	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E584D	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	584						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CTTCCTCATCCTCTTCGTCGT	0.682																																						ENST00000274853.3																			0											c.(1750-1752)gaG>gaT		protein phosphatase 1, regulatory subunit 18							42.0	46.0	45.0					6																	30647026		1204	2508	3712	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30647026C>A	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1752G>T	6.37:g.30647026C>A	ENSP00000274853:p.Glu584Asp					PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E584D	p.E584D	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			2	3628	-			584					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.1752G>T	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111440	0.37242	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.30448	1.53;1.53	5.08	2.32	0.28847	.	0.081829	0.46145	D	0.000306	T	0.07413	0.0187	L	0.27053	0.805	0.35065	D	0.761944	B	0.18610	0.029	B	0.17722	0.019	T	0.12451	-1.0547	10	0.39692	T	0.17	-10.213	5.4841	0.16739	0.0:0.6149:0.145:0.2401	.	584	Q6NYC8	PPR18_HUMAN	D	584	ENSP00000274853:E584D;ENSP00000382150:E584D	ENSP00000274853:E584D	E	-	3	2	KIAA1949	30755005	0.006000	0.16342	0.656000	0.29637	0.907000	0.53573	-1.980000	0.01492	0.193000	0.20303	0.650000	0.86243	GAG		0.682	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		33	268	1	0	4.74835e-14	1	5.14536e-14	33	268				
MUC5B	727897	broad.mit.edu	37	11	1263600	1263600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1263600C>A	ENST00000529681.1	+	31	5548	c.5490C>A	c.(5488-5490)tgC>tgA	p.C1830*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1833*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1830	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCATAGAGTGCCGGGCGGAGA	0.597																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5497-5499)tgC>tgA		mucin 5B, oligomeric mucus/gel-forming							53.0	65.0	61.0					11																	1263600		2071	4203	6274	SO:0001587	stop_gained	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263600C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5490C>A	11.37:g.1263600C>A	ENSP00000436812:p.Cys1830*					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.C1830*	p.C1833*			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5557	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1830			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	ENST00000529681.1	37	c.5499C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	42	9.487211	0.99184	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.64	-0.141	0.13452	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4732	0.44648	0.0:0.6651:0.0:0.3349	.	.	.	.	X	1830;1833;1831;1900	.	ENSP00000343037:C1831X	C	+	3	2	MUC5B	1220176	0.000000	0.05858	0.670000	0.29842	0.106000	0.19336	-0.806000	0.04525	0.072000	0.16694	-0.674000	0.03794	TGC		0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		58	250	1	0	2.69953e-25	1	3.09604e-25	58	250				
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	SLIT1_ENST00000371070.4_Silent_p.I236I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	236	LRRCT 1.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(706-708)atC>atT		slit homolog 1 (Drosophila)							23.0	24.0	24.0					10																	98823297		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98823297G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.708C>T	10.37:g.98823297G>A						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I|SLIT1_ENST00000371070.4_Silent_p.I236I	p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	8	953	-		Colorectal(252;0.162)	236			LRRCT 1.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.708C>T	CCDS7453.1																																																																																				0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		31	119	0	0	0	1	0	31	119				
CHD5	26038	broad.mit.edu	37	1	6169927	6169927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6169927C>T	ENST00000262450.3	-	38	5605	c.5506G>A	c.(5506-5508)Gcc>Acc	p.A1836T	CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A1836T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCTCGGCGAGGCACTCC	0.662																																						ENST00000262450.3																			1	Substitution - Missense(1)	p.A1836T(1)	lung(1)	breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5506-5508)Gcc>Acc		chromodomain helicase DNA binding protein 5							78.0	78.0	78.0					1																	6169927		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6169927C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5506G>A	1.37:g.6169927C>T	ENSP00000262450:p.Ala1836Thr					CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	p.A1836T	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	38	5605	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1836					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5506G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	37	6.365145	0.97507	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.92965	-3.14;1.86	4.65	4.65	0.58169	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000001	D	0.96131	0.8739	M	0.81239	2.535	0.80722	D	1	P;D	0.76494	0.683;0.999	B;D	0.83275	0.407;0.996	D	0.96838	0.9616	10	0.87932	D	0	-19.1569	17.8789	0.88834	0.0:1.0:0.0:0.0	.	1836;693	Q8TDI0;Q5TG85	CHD5_HUMAN;.	T	1836;693;693	ENSP00000262450:A1836T;ENSP00000367260:A693T	ENSP00000262450:A1836T	A	-	1	0	CHD5	6092514	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.680000	0.84062	2.276000	0.75962	0.511000	0.50034	GCC		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		48	465	0	0	0	1	0	48	465				
ZNF184	7738	broad.mit.edu	37	6	27419126	27419126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419126G>A	ENST00000211936.6	-	6	2496	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGAGCAGAGCGATATCTGAAG	0.383																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(2212-2214)Cgc>Tgc		zinc finger protein 184							155.0	153.0	154.0					6																	27419126		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419126G>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2212C>T	6.37:g.27419126G>A	ENSP00000211936:p.Arg738Cys					ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	2496	-			738					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.2212C>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840953	0.32513	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.53640	0.61;0.61	5.18	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393509	0.19849	N	0.104669	T	0.24198	0.0586	L	0.60904	1.88	0.09310	N	1	B	0.25719	0.132	B	0.14578	0.011	T	0.02698	-1.1122	10	0.35671	T	0.21	.	10.0024	0.41938	0.0:0.0:0.7844:0.2156	.	738	Q99676	ZN184_HUMAN	C	738;738;654	ENSP00000211936:R738C;ENSP00000366636:R738C	ENSP00000211936:R738C	R	-	1	0	ZNF184	27527105	0.000000	0.05858	0.398000	0.26321	0.956000	0.61745	0.775000	0.26689	2.696000	0.92011	0.591000	0.81541	CGC		0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		119	586	0	0	0	1	0	119	586				
PCDHB7	56129	broad.mit.edu	37	5	140554408	140554408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554408C>T	ENST00000231137.3	+	1	2166	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCCC	0.706																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1990-1992)gaC>gaT									40.0	64.0	56.0					5																	140554408		2178	4273	6451	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554408C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1992C>T	5.37:g.140554408C>T							p.D664D	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2166	+			664			Cadherin 6.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1992C>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		98	1062	0	0	0	1	0	98	1062				
LSP1	4046	broad.mit.edu	37	11	1904667	1904667	+	Silent	SNP	C	C	T	rs577198149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1904667C>T	ENST00000311604.3	+	4	550	c.375C>T	c.(373-375)taC>taT	p.Y125Y	LSP1_ENST00000406638.2_Silent_p.Y63Y|LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000485341.1_3'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	125					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20638	0.001		0.0	False		,,,				2504	0.0					ENST00000406638.2																			2	Substitution - coding silent(2)	p.Y63Y(1)|p.Y125Y(1)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(187-189)taC>taT		lymphocyte-specific protein 1							79.0	80.0	80.0					11																	1904667		2202	4299	6501	SO:0001819	synonymous_variant	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1904667C>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.375C>T	11.37:g.1904667C>T						LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000485341.1_3'UTR	p.Y63Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	4	1491	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	125					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Silent	SNP	ENST00000311604.3	37	c.189C>T	CCDS31334.1																																																																																				0.587	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		61	324	0	0	0	1	0	61	324				
MIR380	494329	broad.mit.edu	37	14	101491378	101491378	+	RNA	SNP	G	G	A	rs537994987	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101491378G>A	ENST00000362112.2	-	0	63				MIR411_ENST00000362239.2_RNA|MIR758_ENST00000390227.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR299_ENST00000385016.2_RNA|MIR379_ENST00000362218.3_RNA|MIR1197_ENST00000408818.1_RNA|MIR329-1_ENST00000385028.1_RNA	NR_029872.1				microRNA 380																		TAGAACATGCGCTATCTCTGT	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		22674	0.0		0.0	False		,,,				2504	0.002					ENST00000362112.2																			0																				98.0	89.0	92.0					14																	101491378		1568	3581	5149			0							g.chr14:101491378G>A			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101491378G>A								NR_029872.1						0	63	-									RNA	SNP	ENST00000362112.2	37																																																																																						0.493	MIR380-201	KNOWN	basic	miRNA	miRNA		NR_029872		23	89	0	0	0	1	0	23	89				
CUX2	23316	broad.mit.edu	37	12	111758478	111758478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758478G>A	ENST00000261726.6	+	17	2819	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	889					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGAGCAGTACGAGCTGTACAT	0.682																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2665-2667)Gag>Aag		cut-like homeobox 2							15.0	15.0	15.0					12																	111758478		2196	4291	6487	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758478G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2665G>A	12.37:g.111758478G>A	ENSP00000261726:p.Glu889Lys						p.E889K	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2819	+			889					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2665G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406078	0.83230	.	.	ENSG00000111249	ENST00000261726	T	0.57907	0.37	4.45	4.45	0.53987	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.112719	0.64402	D	0.000013	T	0.64360	0.2591	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.69000	-0.5261	10	0.72032	D	0.01	-8.6409	17.126	0.86714	0.0:0.0:1.0:0.0	.	889	O14529	CUX2_HUMAN	K	889	ENSP00000261726:E889K	ENSP00000261726:E889K	E	+	1	0	CUX2	110242861	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	9.347000	0.97059	2.044000	0.60594	0.289000	0.19496	GAG		0.682	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		35	97	0	0	0	1	0	35	97				
FBXO18	84893	broad.mit.edu	37	10	5948357	5948357	+	Missense_Mutation	SNP	G	G	A	rs145958035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5948357G>A	ENST00000362091.4	+	3	630	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	FBXO18_ENST00000379999.5_Missense_Mutation_p.R223Q|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	172	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTACGTCTCGGCTCTCTGCG	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22567	0.0		0.0	False		,,,				2504	0.0					ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(667-669)cGg>cAg		F-box protein, helicase, 18		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	61.0	52.0	55.0		668,515	-5.5	0.0	10	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	223/1095,172/1044	5948357	2,13004	2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948357G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.515G>A	10.37:g.5948357G>A	ENSP00000355415:p.Arg172Gln					FBXO18_ENST00000362091.4_Missense_Mutation_p.R172Q|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	p.R223Q	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			4	772	+			172					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.668G>A	CCDS7072.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.039	-1.292831	0.01375	4.54E-4	0.0	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.52	-5.47	0.02600	.	1.774100	0.02188	N	0.061094	T	0.12433	0.0302	N	0.01576	-0.805	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32613	-0.9900	9	0.08179	T	0.78	1.2348	9.6318	0.39785	0.669:0.0:0.2333:0.0977	.	223;172;98	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Q	172;223	.	ENSP00000355415:R172Q	R	+	2	0	FBXO18	5988363	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.453000	0.06778	-1.020000	0.03354	-0.136000	0.14681	CGG		0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		22	187	0	0	0	1	0	22	187				
UACA	55075	broad.mit.edu	37	15	70969475	70969475	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70969475A>C	ENST00000322954.6	-	12	1189	c.1004T>G	c.(1003-1005)gTt>gGt	p.V335G	UACA_ENST00000560441.1_Missense_Mutation_p.V322G|UACA_ENST00000539319.1_Missense_Mutation_p.V226G|UACA_ENST00000379983.2_Missense_Mutation_p.V322G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	335					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGCAACCATAACTTCCTAAAT	0.274																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(1003-1005)gTt>gGt		uveal autoantigen with coiled-coil domains and ankyrin repeats							56.0	62.0	60.0					15																	70969475		2199	4295	6494	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70969475A>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1004T>G	15.37:g.70969475A>C	ENSP00000314556:p.Val335Gly					UACA_ENST00000539319.1_Missense_Mutation_p.V226G|UACA_ENST00000560441.1_Missense_Mutation_p.V322G|UACA_ENST00000379983.2_Missense_Mutation_p.V322G	p.V335G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			12	1189	-			335					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.1004T>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477796	0.63849	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34667	1.35;1.37;1.8	5.4	4.21	0.49690	.	0.591373	0.15170	N	0.276723	T	0.44222	0.1283	L	0.51422	1.61	0.44677	D	0.997667	D;D;D	0.57899	0.967;0.968;0.981	P;P;P	0.57324	0.604;0.587;0.818	T	0.10917	-1.0609	10	0.23302	T	0.38	-18.2105	9.5199	0.39129	0.7722:0.0:0.0:0.2278	.	226;335;322	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	G	335;322;226	ENSP00000314556:V335G;ENSP00000369319:V322G;ENSP00000438667:V226G	ENSP00000314556:V335G	V	-	2	0	UACA	68756529	0.988000	0.35896	0.972000	0.41901	0.984000	0.73092	2.588000	0.46137	2.175000	0.68902	0.477000	0.44152	GTT		0.274	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			50	211	0	0	0	1	0	50	211				
ACSM2B	348158	broad.mit.edu	37	16	20570669	20570669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20570669G>A	ENST00000329697.6	-	3	446	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	93					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATGTTGGCTGCCTGCTGGCT	0.602																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(277-279)gCa>gTa		acyl-CoA synthetase medium-chain family member 2B							25.0	21.0	22.0					16																	20570669		2201	4284	6485	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570669G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.278C>T	16.37:g.20570669G>A	ENSP00000327453:p.Ala93Val					ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93V	p.A93V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	446	-			93					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.278C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022450	0.08006	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.37411	1.2;1.2	3.51	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.16342	0.0393	N	0.17082	0.46	0.22639	N	0.998907	B;B	0.34290	0.447;0.447	B;B	0.26202	0.067;0.067	T	0.13150	-1.0520	10	0.02654	T	1	-0.3522	9.68	0.40065	0.1073:0.0:0.8927:0.0	.	93;93	A8K051;Q68CK6	.;ACS2B_HUMAN	V	93	ENSP00000327453:A93V;ENSP00000390378:A93V	ENSP00000327453:A93V	A	-	2	0	ACSM2B	20478170	0.000000	0.05858	0.040000	0.18447	0.013000	0.08279	0.468000	0.22051	0.685000	0.31468	-0.192000	0.12808	GCA		0.602	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		25	91	0	0	0	1	0	25	91				
SAP130	79595	broad.mit.edu	37	2	128747261	128747261	+	Missense_Mutation	SNP	G	G	A	rs111795237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747261G>A	ENST00000259235.3	-	13	1864	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	SAP130_ENST00000357702.5_Missense_Mutation_p.P579S|SAP130_ENST00000259234.6_Missense_Mutation_p.P553S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	579					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTATCCCTGGGGTCCCAATG	0.572																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1735-1737)Cca>Tca		Sin3A-associated protein, 130kDa							112.0	108.0	110.0					2																	128747261		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747261G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1735C>T	2.37:g.128747261G>A	ENSP00000259235:p.Pro579Ser					SAP130_ENST00000259234.6_Missense_Mutation_p.P553S|SAP130_ENST00000259235.3_Missense_Mutation_p.P579S	p.P579S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1866	-	Colorectal(110;0.1)		579					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1735C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526128	0.44969	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	4.67	0.58626	.	0.188036	0.52532	N	0.000062	T	0.30070	0.0753	N	0.08118	0	0.35563	D	0.804872	B;B;B;B;B	0.21309	0.023;0.0;0.001;0.054;0.004	B;B;B;B;B	0.20577	0.01;0.0;0.002;0.03;0.022	T	0.27020	-1.0086	9	0.08599	T	0.76	-3.5579	13.5288	0.61611	0.0762:0.0:0.9238:0.0	.	579;552;579;109;217	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	S	579;579;553	.	ENSP00000259234:P553S	P	-	1	0	SAP130	128463731	1.000000	0.71417	0.311000	0.25182	0.867000	0.49689	7.421000	0.80204	1.306000	0.44926	0.655000	0.94253	CCA		0.572	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		62	403	0	0	0	1	0	62	403				
PLIN5	440503	broad.mit.edu	37	19	4523771	4523771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4523771C>A	ENST00000381848.3	-	8	1241	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	387	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGGCAGGGGCTCGGGTCGCT	0.741																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1159-1161)gaG>gaT		perilipin 5							19.0	24.0	22.0					19																	4523771		2072	4154	6226	SO:0001583	missense	440503					lipid particle		g.chr19:4523771C>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1161G>T	19.37:g.4523771C>A	ENSP00000371272:p.Glu387Asp						p.E387D	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			8	1241	-			387					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.1161G>T	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	C	4.341	0.062678	0.08388	.	.	ENSG00000214456	ENST00000381848	T	0.13089	2.62	4.62	-2.16	0.07080	.	2.270970	0.03127	U	0.164645	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.28902	-1.0029	10	0.18710	T	0.47	-8.503	1.0071	0.01489	0.1753:0.3071:0.3045:0.213	.	387	Q00G26	PLIN5_HUMAN	D	387	ENSP00000371272:E387D	ENSP00000371272:E387D	E	-	3	2	PLIN5	4474771	0.005000	0.15991	0.085000	0.20634	0.005000	0.04900	-0.067000	0.11579	0.030000	0.15379	-0.350000	0.07774	GAG		0.741	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		84	336	1	0	8.87156e-34	1	1.0529e-33	84	336				
ZNF577	84765	broad.mit.edu	37	19	52375983	52375983	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52375983T>A	ENST00000301399.5	-	7	1625	c.1260A>T	c.(1258-1260)tcA>tcT	p.S420S	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Silent_p.S361S|ZNF577_ENST00000451628.2_Silent_p.S361S	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCGGGGTTCCTGAGGAAGGCA	0.433																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1081-1083)tcA>tcT		zinc finger protein 577							61.0	61.0	61.0					19																	52375983		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52375983T>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1260A>T	19.37:g.52375983T>A						ZNF577_ENST00000451628.2_Silent_p.S361S|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Silent_p.S420S	p.S361S			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2416	-		all_neural(266;0.0602)	420					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.1083A>T	CCDS12842.2																																																																																				0.433	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		61	327	0	0	0	1	0	61	327				
VSIG2	23584	broad.mit.edu	37	11	124618371	124618371	+	Missense_Mutation	SNP	G	G	T	rs140273632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124618371G>T	ENST00000326621.5	-	6	866	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	RP11-677M14.2_ENST00000531241.1_RNA|VSIG2_ENST00000403470.1_Missense_Mutation_p.L256M	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	256						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCAACTGACAGCAACAGCACG	0.582																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(766-768)Ctg>Atg		V-set and immunoglobulin domain containing 2							98.0	88.0	91.0					11																	124618371		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618371G>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.766C>A	11.37:g.124618371G>T	ENSP00000318684:p.Leu256Met					VSIG2_ENST00000326621.5_Missense_Mutation_p.L256M	p.L256M			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	6	821	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	256					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.766C>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579365	0.65878	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.77489	-1.1;-1.08	5.65	3.6	0.41247	.	0.270881	0.27366	N	0.019694	D	0.86049	0.5840	M	0.82823	2.61	0.32550	N	0.532482	D	0.76494	0.999	D	0.85130	0.997	D	0.87226	0.2257	10	0.72032	D	0.01	.	6.5355	0.22350	0.2235:0.0:0.7765:0.0	.	256	Q96IQ7	VSIG2_HUMAN	M	256	ENSP00000318684:L256M;ENSP00000385013:L256M	ENSP00000318684:L256M	L	-	1	2	VSIG2	124123581	0.997000	0.39634	0.953000	0.39169	0.928000	0.56348	1.559000	0.36320	1.560000	0.49568	0.655000	0.94253	CTG		0.582	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		70	313	1	0	8.83742e-36	1	1.05621e-35	70	313				
CEP170B	283638	broad.mit.edu	37	14	105354058	105354058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105354058C>T	ENST00000414716.3	+	12	3710	c.3482C>T	c.(3481-3483)gCc>gTc	p.A1161V	CEP170B_ENST00000418279.1_Missense_Mutation_p.A1091V|CEP170B_ENST00000453495.1_Missense_Mutation_p.A1162V|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1091V	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1161						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCTGAGCAGGCCAAGAAGCTG	0.716																																						ENST00000453495.1																			0											c.(3484-3486)gCc>gTc		centrosomal protein 170B							6.0	10.0	9.0					14																	105354058		1949	4094	6043	SO:0001583	missense	283638							g.chr14:105354058C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3482C>T	14.37:g.105354058C>T	ENSP00000404151:p.Ala1161Val					CEP170B_ENST00000418279.1_Missense_Mutation_p.A1091V|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1091V|CEP170B_ENST00000414716.3_Missense_Mutation_p.A1161V	p.A1162V							12	3713	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3485C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	c	12.26	1.884865	0.33255	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.44881	0.91;0.92;0.91;0.92	4.03	1.96	0.26148	.	0.966170	0.08452	U	0.943742	T	0.52996	0.1769	L	0.54323	1.7	0.24738	N	0.993052	P;D;P	0.63880	0.514;0.993;0.639	B;P;B	0.57101	0.119;0.813;0.134	T	0.42849	-0.9427	10	0.62326	D	0.03	-24.1166	10.3639	0.44012	0.0:0.7644:0.1481:0.0875	.	1161;1161;1091	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	V	1091;1161;1162;1091	ENSP00000451249:A1091V;ENSP00000404151:A1161V;ENSP00000407238:A1162V;ENSP00000415006:A1091V	ENSP00000404151:A1161V	A	+	2	0	KIAA0284	104425103	0.847000	0.29606	1.000000	0.80357	0.107000	0.19398	2.343000	0.44001	0.687000	0.31509	-0.371000	0.07208	GCC		0.716	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		13	47	0	0	0	1	0	13	47				
IFI30	10437	broad.mit.edu	37	19	18285994	18285994	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18285994A>T	ENST00000407280.3	+	2	452	c.277A>T	c.(277-279)Atc>Ttc	p.I93F	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	93					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GGTCATGGAGATCCTCAATGT	0.607																																						ENST00000407280.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						c.(277-279)Atc>Ttc		interferon, gamma-inducible protein 30							45.0	45.0	45.0					19																	18285994		2083	4218	6301	SO:0001583	missense	10437				antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors	g.chr19:18285994A>T	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.277A>T	19.37:g.18285994A>T	ENSP00000384886:p.Ile93Phe					PIK3R2_ENST00000593731.1_3'UTR	p.I93F	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN			2	345	+			93					Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	c.277A>T	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136738	0.56936	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.95	3.92	0.45320	.	.	.	.	.	T	0.65933	0.2739	L	0.47078	1.49	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.64871	-0.6305	8	0.44086	T	0.13	-1.1563	10.1999	0.43077	0.9147:0.0:0.0853:0.0	.	93	P13284	GILT_HUMAN	F	93	.	ENSP00000384886:I93F	I	+	1	0	IFI30	18146994	0.998000	0.40836	0.980000	0.43619	0.077000	0.17291	3.633000	0.54295	1.996000	0.58369	0.402000	0.26972	ATC		0.607	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		10	45	0	0	0	1	0	10	45				
MSH3	4437	broad.mit.edu	37	5	80150042	80150042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80150042G>T	ENST00000265081.6	+	21	2987	c.2907G>T	c.(2905-2907)caG>caT	p.Q969H		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	969					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAACATCACAGTCCTTGGTTA	0.403								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2905-2907)caG>caT	Mismatch excision repair (MMR)	mutS homolog 3							137.0	125.0	129.0					5																	80150042		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80150042G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2907G>T	5.37:g.80150042G>T	ENSP00000265081:p.Gln969His						p.Q969H	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	21	2987	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	969					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.2907G>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795617	0.31777	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85171	-1.95	5.25	3.12	0.35913	DNA mismatch repair protein MutS, C-terminal (2);	0.163440	0.53938	D	0.000043	T	0.64000	0.2559	N	0.04994	-0.135	0.33381	D	0.574795	B	0.16166	0.016	B	0.19946	0.027	T	0.58607	-0.7607	9	.	.	.	-2.5097	4.2003	0.10462	0.1322:0.1499:0.5656:0.1523	.	969	P20585	MSH3_HUMAN	H	969;960	ENSP00000265081:Q969H	.	Q	+	3	2	MSH3	80185798	0.868000	0.29978	0.963000	0.40424	0.938000	0.57974	0.101000	0.15251	1.169000	0.42739	0.655000	0.94253	CAG		0.403	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		94	363	1	0	2.18907e-53	1	2.72816e-53	94	363				
MALSU1	115416	broad.mit.edu	37	7	23349053	23349053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23349053A>G	ENST00000466681.1	+	4	749	c.596A>G	c.(595-597)tAt>tGt	p.Y199C		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	199					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											CTACGTTCTTATGATGACCAG	0.403																																						ENST00000466681.1																			0											c.(595-597)tAt>tGt		mitochondrial assembly of ribosomal large subunit 1							140.0	131.0	134.0					7																	23349053		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23349053A>G	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.596A>G	7.37:g.23349053A>G	ENSP00000419370:p.Tyr199Cys						p.Y199C	NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN			4	749	+			199					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.596A>G	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785426	0.49997	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.61	3.15	0.36227	.	0.098520	0.44285	D	0.000463	T	0.37320	0.0999	L	0.38838	1.175	0.38041	D	0.935454	B	0.30021	0.265	B	0.24394	0.053	T	0.33650	-0.9860	9	0.49607	T	0.09	-19.7612	7.5319	0.27687	0.8005:0.0:0.0702:0.1293	.	199	Q96EH3	CG030_HUMAN	C	199	.	ENSP00000419370:Y199C	Y	+	2	0	C7orf30	23315578	0.953000	0.32496	0.973000	0.42090	0.977000	0.68977	2.656000	0.46716	0.916000	0.36871	0.482000	0.46254	TAT		0.403	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		87	390	0	0	0	1	0	87	390				
SNX25	83891	broad.mit.edu	37	4	186278860	186278860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186278860G>A	ENST00000504273.1	+	16	2422	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	SNX25_ENST00000264694.8_Missense_Mutation_p.V710I|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	710					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AATTGCCCTCGTTCAGGTCAC	0.373																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(2128-2130)Gtt>Att		sorting nexin 25							165.0	157.0	160.0					4																	186278860		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186278860G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2128G>A	4.37:g.186278860G>A	ENSP00000426255:p.Val710Ile					SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.V710I	p.V710I			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	16	2422	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	710					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.2128G>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546948	0.96488	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.33438	1.41;1.41	5.9	5.9	0.94986	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.83275	0.943;0.909;0.996	T	0.45542	-0.9254	10	0.35671	T	0.21	-22.4775	20.2822	0.98520	0.0:0.0:1.0:0.0	.	426;243;710	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	I	710;710;243	ENSP00000426255:V710I;ENSP00000264694:V710I	ENSP00000264693:V243I	V	+	1	0	SNX25	186515854	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GTT		0.373	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		44	341	0	0	0	1	0	44	341				
FAM200A	221786	broad.mit.edu	37	7	99146025	99146025	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99146025A>G	ENST00000449309.1	-	2	385	c.6T>C	c.(4-6)acT>acC	p.T2T		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	2						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TTGATTCAGGAGTCATTATTC	0.468																																						ENST00000449309.1																			0				endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						c.(4-6)acT>acC		family with sequence similarity 200, member A							61.0	63.0	62.0					7																	99146025		2188	4297	6485	SO:0001819	synonymous_variant	221786					integral to membrane	nucleic acid binding	g.chr7:99146025A>G		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.6T>C	7.37:g.99146025A>G							p.T2T	NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN			2	385	-			2					A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Silent	SNP	ENST00000449309.1	37	c.6T>C	CCDS5668.1																																																																																				0.468	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		56	206	0	0	0	1	0	56	206				
RAB40C	57799	broad.mit.edu	37	16	676048	676048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:676048C>T	ENST00000248139.3	+	5	695	c.492C>T	c.(490-492)atC>atT	p.I164I	RAB40C_ENST00000535977.1_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I|RAB40C_ENST00000538492.1_Silent_p.I164I	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	164					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAACGTCATCGAGTCCTTCA	0.642																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(490-492)atC>atT		RAB40C, member RAS oncogene family							111.0	95.0	101.0					16																	676048		2201	4300	6501	SO:0001819	synonymous_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:676048C>T	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.492C>T	16.37:g.676048C>T						RAB40C_ENST00000248139.3_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I|RAB40C_ENST00000538492.1_Silent_p.I164I	p.I164I	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			6	714	+		Hepatocellular(780;0.0218)	164					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Silent	SNP	ENST00000248139.3	37	c.492C>T	CCDS10413.1																																																																																				0.642	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		101	430	0	0	0	1	0	101	430				
KIAA1958	158405	broad.mit.edu	37	9	115421560	115421560	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421560G>A	ENST00000337530.6	+	4	1658	c.1362G>A	c.(1360-1362)ttG>ttA	p.L454L	KIAA1958_ENST00000536272.1_Silent_p.L482L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	454										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGTGAAGTTGAACGAGCTGC	0.552																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1360-1362)ttG>ttA		KIAA1958							87.0	74.0	78.0					9																	115421560		2203	4300	6503	SO:0001819	synonymous_variant	158405							g.chr9:115421560G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1362G>A	9.37:g.115421560G>A						KIAA1958_ENST00000536272.1_Silent_p.L482L	p.L454L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1658	+			454					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	c.1362G>A	CCDS35108.1																																																																																				0.552	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		72	365	0	0	0	1	0	72	365				
TMEM128	85013	broad.mit.edu	37	4	4242094	4242094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4242094C>T	ENST00000382753.4	-	3	361	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T|TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000254742.2_Missense_Mutation_p.A94T			Q5BJH2	TM128_HUMAN	transmembrane protein 128	118						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GGTATCAAGGCTGGATACTTG	0.368																																						ENST00000254742.2																			0				endometrium(1)|kidney(1)	2						c.(280-282)Gcc>Acc		transmembrane protein 128							134.0	108.0	117.0					4																	4242094		2203	4300	6503	SO:0001583	missense	85013					integral to membrane		g.chr4:4242094C>T	BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.352G>A	4.37:g.4242094C>T	ENSP00000372201:p.Ala118Thr					TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T|TMEM128_ENST00000382753.4_Missense_Mutation_p.A118T	p.A94T	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	3	866	-			118					B4DHS7|D3DVS3|Q5H9U6|Q96I94	Missense_Mutation	SNP	ENST00000382753.4	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	C	7.626	0.677821	0.14841	.	.	ENSG00000132406	ENST00000254742;ENST00000382753;ENST00000538516;ENST00000540397	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.48	-10.3	0.00346	.	0.847211	0.10602	N	0.655600	T	0.55816	0.1944	N	0.05351	-0.065	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.11329	0.006;0.006;0.004;0.004	T	0.45234	-0.9275	10	0.22706	T	0.39	-0.0782	13.3231	0.60444	0.1752:0.7316:0.0:0.0933	.	118;118;118;94	B7Z3K1;Q5BJH2;D3DVS1;Q5BJH2-2	.;TM128_HUMAN;.;.	T	94;118;118;118	ENSP00000254742:A94T;ENSP00000372201:A118T;ENSP00000442300:A118T;ENSP00000439174:A118T	ENSP00000254742:A94T	A	-	1	0	TMEM128	4292995	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.607000	0.05648	-2.754000	0.00373	-0.156000	0.13503	GCC		0.368	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	NM_032927		27	142	0	0	0	1	0	27	142				
RNF113B	140432	broad.mit.edu	37	13	98829110	98829110	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98829110G>A	ENST00000267291.6	-	1	409	c.381C>T	c.(379-381)atC>atT	p.I127I	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	127							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCACTTGAGGATGGTCGGCG	0.652																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(379-381)atC>atT		ring finger protein 113B							83.0	78.0	80.0					13																	98829110		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98829110G>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.381C>T	13.37:g.98829110G>A						FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	p.I127I	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	409	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		127					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.381C>T	CCDS9486.1																																																																																				0.652	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		50	276	0	0	0	1	0	50	276				
MASP2	10747	broad.mit.edu	37	1	11106656	11106656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11106656G>A	ENST00000400897.3	-	3	384	c.369C>T	c.(367-369)aaC>aaT	p.N123N	MASP2_ENST00000400898.3_Silent_p.N123N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	123	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACGGCTTCTCGTTGGAGTAGT	0.627																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(367-369)aaC>aaT		mannan-binding lectin serine peptidase 2							53.0	46.0	48.0					1																	11106656		2203	4300	6503	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11106656G>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.369C>T	1.37:g.11106656G>A						MASP2_ENST00000400898.3_Silent_p.N123N	p.N123N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	3	384	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	123			CUB 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.369C>T	CCDS123.1																																																																																				0.627	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		22	149	0	0	0	1	0	22	149				
CEP350	9857	broad.mit.edu	37	1	179983348	179983348	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179983348A>G	ENST00000367607.3	+	10	2178	c.1760A>G	c.(1759-1761)aAa>aGa	p.K587R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	587					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTATTTCCAAAAGGCGCCAC	0.443																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(1759-1761)aAa>aGa		centrosomal protein 350kDa							52.0	47.0	49.0					1																	179983348		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179983348A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1760A>G	1.37:g.179983348A>G	ENSP00000356579:p.Lys587Arg						p.K587R	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			10	2178	+			587					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.1760A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761437	0.89932	.	.	ENSG00000135837	ENST00000367607	D	0.90197	-2.63	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000082	D	0.94850	0.8336	M	0.73598	2.24	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94602	0.7797	9	.	.	.	.	15.7476	0.77958	1.0:0.0:0.0:0.0	.	587;587	E7EU22;Q5VT06	.;CE350_HUMAN	R	587	ENSP00000356579:K587R	.	K	+	2	0	CEP350	178249971	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.810000	0.75216	2.251000	0.74343	0.528000	0.53228	AAA		0.443	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		18	51	0	0	0	1	0	18	51				
FAM101A	144347	broad.mit.edu	37	12	124798970	124798970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798970C>T	ENST00000389727.3	+	3	550	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y|FAM101A_ENST00000324038.3_Missense_Mutation_p.H103Y			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	184										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GACCACCCTGCACTGCAGCCT	0.706																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(550-552)Cac>Tac		family with sequence similarity 101, member A							41.0	41.0	41.0					12																	124798970		2203	4298	6501	SO:0001583	missense	144347							g.chr12:124798970C>T		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.550C>T	12.37:g.124798970C>T	ENSP00000374377:p.His184Tyr					FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000324038.3_Missense_Mutation_p.H103Y|FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y	p.H184Y			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	550	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		184					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.550C>T		.	.	.	.	.	.	.	.	.	.	C	14.99	2.700828	0.48307	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	3.81	0.43845	.	0.461107	0.23924	N	0.043209	T	0.32194	0.0821	L	0.36672	1.1	0.30418	N	0.778351	P	0.40731	0.728	B	0.40825	0.341	T	0.34153	-0.9840	9	0.62326	D	0.03	-17.4896	6.5299	0.22322	0.309:0.5978:0.0:0.0931	.	184	Q6ZTI6	F101A_HUMAN	Y	103;184;103;103	.	ENSP00000315626:H103Y	H	+	1	0	FAM101A	123364923	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.132000	0.64758	0.966000	0.38159	0.561000	0.74099	CAC		0.706	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		85	316	0	0	0	1	0	85	316				
CHD1	1105	broad.mit.edu	37	5	98209328	98209328	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98209328T>C	ENST00000284049.3	-	25	3689	c.3540A>G	c.(3538-3540)ttA>ttG	p.L1180L	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1180					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AACTATCCTTTAATGCTTTAA	0.353																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3538-3540)ttA>ttG		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						147.0	135.0	139.0					5																	98209328		2203	4300	6503	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98209328T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3540A>G	5.37:g.98209328T>C							p.L1180L	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	25	3689	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1180					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.3540A>G	CCDS34204.1																																																																																				0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		54	207	0	0	0	1	0	54	207				
IL1RL2	8808	broad.mit.edu	37	2	102818144	102818144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102818144C>T	ENST00000264257.2	+	5	744	c.618C>T	c.(616-618)taC>taT	p.Y206Y	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.Y89Y|IL1RL2_ENST00000539491.1_Silent_p.Y206Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	206	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGAAGCAGTACGAGGTTTTAA	0.478																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(616-618)taC>taT		interleukin 1 receptor-like 2							133.0	108.0	117.0					2																	102818144		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102818144C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.618C>T	2.37:g.102818144C>T						IL1RL2_ENST00000441515.2_Silent_p.Y89Y|IL1RL2_ENST00000539491.1_Silent_p.Y206Y|IL1RL2_ENST00000481806.1_3'UTR	p.Y206Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			5	744	+			206			Ig-like C2-type 2.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.618C>T	CCDS2056.1																																																																																				0.478	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		34	186	0	0	0	1	0	34	186				
SMC4	10051	broad.mit.edu	37	3	160149468	160149468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160149468C>A	ENST00000357388.3	+	21	3603	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H|SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1051					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGATAATCCTATTGAAGAG	0.343																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3151-3153)cCt>cAt		structural maintenance of chromosomes 4							45.0	51.0	49.0					3																	160149468		2202	4300	6502	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160149468C>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3152C>A	3.37:g.160149468C>A	ENSP00000349961:p.Pro1051His					SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H	p.P1051H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		21	3603	+			1051					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3152C>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013696	0.54468	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77620	-0.84;-1.11;-0.83;-1.11;-0.84	6.06	5.18	0.71444	RecF/RecN/SMC (1);	0.091308	0.85682	N	0.000000	T	0.74496	0.3724	L	0.58510	1.815	0.53688	D	0.99997	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.18871	0.004;0.012;0.016;0.023	T	0.69316	-0.5177	10	0.28530	T	0.3	-6.5535	15.0777	0.72090	0.2585:0.7415:0.0:0.0	.	993;1026;1026;1051	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	1051;993;1026;993;1051;645	ENSP00000349961:P1051H;ENSP00000353225:P993H;ENSP00000417964:P1026H;ENSP00000420734:P993H;ENSP00000341382:P1051H	ENSP00000341382:P1051H	P	+	2	0	SMC4	161632162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.637000	0.54324	1.554000	0.49487	0.655000	0.94253	CCT		0.343	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			43	215	1	0	1.32136e-16	1	1.45297e-16	43	215				
NOSIP	51070	broad.mit.edu	37	19	50060441	50060441	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060441C>A	ENST00000596358.1	-	5	382	c.324G>T	c.(322-324)caG>caT	p.Q108H	NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H|NOSIP_ENST00000391853.3_Missense_Mutation_p.Q108H	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	108					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCACATGGTCCTGCGAGGCCG	0.677																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(322-324)caG>caT		nitric oxide synthase interacting protein							24.0	26.0	25.0					19																	50060441		2203	4299	6502	SO:0001583	missense	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50060441C>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.324G>T	19.37:g.50060441C>A	ENSP00000470034:p.Gln108His					NOSIP_ENST00000596358.1_Missense_Mutation_p.Q108H|NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H	p.Q108H	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	6	475	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	108					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.324G>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602309	0.46423	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.77098	-1.07;-1.07	5.15	2.95	0.34219	.	0.386687	0.27214	N	0.020382	T	0.67429	0.2892	L	0.42744	1.35	0.46701	D	0.999163	B	0.17852	0.024	B	0.16722	0.016	T	0.61182	-0.7114	10	0.52906	T	0.07	-32.2216	7.2859	0.26340	0.1672:0.7453:0.0:0.0875	.	108	Q9Y314	NOSIP_HUMAN	H	108	ENSP00000343497:Q108H;ENSP00000375726:Q108H	ENSP00000343497:Q108H	Q	-	3	2	NOSIP	54752253	0.990000	0.36364	0.964000	0.40570	0.526000	0.34562	0.233000	0.17911	0.527000	0.28560	0.462000	0.41574	CAG		0.677	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			21	67	1	0	2.21704e-12	1	2.37967e-12	21	67				
TICRR	90381	broad.mit.edu	37	15	90167585	90167585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90167585C>T	ENST00000268138.7	+	20	4149	c.4044C>T	c.(4042-4044)agC>agT	p.S1348S	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.S1347S			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1348	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGTCACCCAGCGTAGCTGCAT	0.507																																						ENST00000268138.7																			0											c.(4042-4044)agC>agT		TOPBP1-interacting checkpoint and replication regulator							107.0	111.0	110.0					15																	90167585		2200	4299	6499	SO:0001819	synonymous_variant	90381							g.chr15:90167585C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4044C>T	15.37:g.90167585C>T						KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.S1347S	p.S1348S							20	4149	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.4044C>T	CCDS10352.2																																																																																				0.507	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		166	681	0	0	0	1	0	166	681				
EDC4	23644	broad.mit.edu	37	16	67914671	67914671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67914671C>T	ENST00000358933.5	+	18	2548	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	770					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GACAGTATGGCTTCAGCCGCC	0.667																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2308-2310)gCt>gTt		enhancer of mRNA decapping 4							98.0	95.0	96.0					16																	67914671		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914671C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2309C>T	16.37:g.67914671C>T	ENSP00000351811:p.Ala770Val						p.A770V	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2548	+		Ovarian(137;0.0563)	770					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2309C>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238363	0.95240	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.100889	0.64402	D	0.000002	T	0.49423	0.1556	L	0.29908	0.895	0.48395	D	0.999648	D	0.56968	0.978	P	0.50825	0.651	T	0.36744	-0.9735	9	0.25751	T	0.34	-15.198	14.5219	0.67856	0.0:0.8534:0.1466:0.0	.	770	Q6P2E9	EDC4_HUMAN	V	770	.	ENSP00000351811:A770V	A	+	2	0	EDC4	66472172	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.921000	0.70028	2.560000	0.86352	0.591000	0.81541	GCT		0.667	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		191	749	0	0	0	1	0	191	749				
PRAM1	84106	broad.mit.edu	37	19	8564513	8564513	+	Missense_Mutation	SNP	G	G	A	rs199916444	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8564513G>A	ENST00000423345.4	-	2	699	c.179C>T	c.(178-180)cCg>cTg	p.P60L	PRAM1_ENST00000255612.3_Missense_Mutation_p.P60L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	60	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCAGCGGGGCCTTCTT	0.622													-|||	2	0.000399361	0.0	0.0014	5008	,	,		12183	0.0		0.0	False		,,,				2504	0.001					ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(178-180)cCg>cTg		PML-RARA regulated adaptor molecule 1		G	LEU/PRO	5,3901		0,5,1948	59.0	70.0	66.0		179	-0.8	0.0	19		66	0,8268		0,0,4134	yes	missense	PRAM1	NM_032152.4	98	0,5,6082	AA,AG,GG		0.0,0.128,0.0411	benign	60/671	8564513	5,12169	1953	4134	6087	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8564513G>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.179C>T	19.37:g.8564513G>A	ENSP00000408342:p.Pro60Leu					PRAM1_ENST00000255612.3_Missense_Mutation_p.P60L	p.P60L			Q96QH2	PRAM_HUMAN			2	699	-			60			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.179C>T	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215607	0.22373	0.00128	0.0	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14391	2.51;2.51	4.17	-0.841	0.10752	.	.	.	.	.	T	0.10594	0.0259	L	0.59436	1.845	0.09310	N	1	B;B	0.26041	0.14;0.064	B;B	0.17098	0.017;0.017	T	0.34527	-0.9825	9	0.25106	T	0.35	.	2.9996	0.06009	0.218:0.0:0.4054:0.3766	.	60;60	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	L	60	ENSP00000255612:P60L;ENSP00000408342:P60L	ENSP00000255612:P60L	P	-	2	0	PRAM1	8470513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.412000	0.07132	-0.014000	0.14175	-0.218000	0.12543	CCG		0.622	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		133	626	0	0	0	1	0	133	626				
C16orf59	80178	broad.mit.edu	37	16	2510970	2510970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510970C>T	ENST00000361837.4	+	4	415	c.350C>T	c.(349-351)aCg>aTg	p.T117M	C16orf59_ENST00000569496.1_Missense_Mutation_p.T117M|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	117										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TCTTCTGGCACGACAGCCTCC	0.617																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(349-351)aCg>aTg		chromosome 16 open reading frame 59							60.0	69.0	66.0					16																	2510970		2081	4207	6288	SO:0001583	missense	80178							g.chr16:2510970C>T	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.350C>T	16.37:g.2510970C>T	ENSP00000355022:p.Thr117Met					C16orf59_ENST00000361837.4_Missense_Mutation_p.T117M|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M	p.T117M			Q7L2K0	CP059_HUMAN			4	409	+		Ovarian(90;0.17)	117					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.350C>T	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550521	0.45383	.	.	ENSG00000162062	ENST00000361837	T	0.47528	0.84	3.97	-0.205	0.13196	.	0.621363	0.11903	U	0.518417	T	0.32496	0.0831	L	0.54323	1.7	0.09310	N	0.999999	P	0.37398	0.593	B	0.27715	0.082	T	0.25012	-1.0144	10	0.72032	D	0.01	-0.6322	3.1424	0.06460	0.1875:0.5022:0.0:0.3103	.	117	Q7L2K0	CP059_HUMAN	M	117	ENSP00000355022:T117M	ENSP00000355022:T117M	T	+	2	0	C16orf59	2450971	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.089000	0.15002	0.004000	0.14682	-0.793000	0.03317	ACG		0.617	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		81	297	0	0	0	1	0	81	297				
SGSM2	9905	broad.mit.edu	37	17	2282335	2282335	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282335C>T	ENST00000426855.2	+	22	2945	c.2770C>T	c.(2770-2772)Ctg>Ttg	p.L924L	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.L969L|SGSM2_ENST00000574563.1_Silent_p.L924L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	924	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGCAGAACTGCTGTATGAGGA	0.607																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2905-2907)Ctg>Ttg		small G protein signaling modulator 2							131.0	92.0	105.0					17																	2282335		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2282335C>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2770C>T	17.37:g.2282335C>T						SGSM2_ENST00000574563.1_Silent_p.L924L|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Silent_p.L924L	p.L969L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	23	3082	+			924					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.2905C>T	CCDS45570.1																																																																																				0.607	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		18	115	0	0	0	1	0	18	115				
SOS1	6654	broad.mit.edu	37	2	39285830	39285830	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39285830A>T	ENST00000426016.1	-	4	415	c.329T>A	c.(328-330)aTt>aAt	p.I110N	SOS1_ENST00000395038.2_Missense_Mutation_p.I110N|SOS1_ENST00000428721.2_Missense_Mutation_p.I53N|SOS1_ENST00000402219.2_Missense_Mutation_p.I110N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	110					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAAAGGATGAATTTTTTCTAC	0.343									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(328-330)aTt>aAt		son of sevenless homolog 1 (Drosophila)							96.0	102.0	100.0					2																	39285830		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39285830A>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.329T>A	2.37:g.39285830A>T	ENSP00000387784:p.Ile110Asn					SOS1_ENST00000395038.2_Missense_Mutation_p.I110N|SOS1_ENST00000402219.2_Missense_Mutation_p.I110N|SOS1_ENST00000428721.2_Missense_Mutation_p.I53N	p.I110N			Q07889	SOS1_HUMAN			4	415	-		all_hematologic(82;0.21)	110					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.329T>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612252	0.87258	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.9	5.9	0.94986	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	110	Q07889	SOS1_HUMAN	N	110;110;110;110;53;53	ENSP00000387784:I110N;ENSP00000384675:I110N;ENSP00000378479:I110N;ENSP00000399992:I53N;ENSP00000393899:I53N	ENSP00000263879:I110N	I	-	2	0	SOS1	39139334	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.210000	0.95106	2.251000	0.74343	0.528000	0.53228	ATT		0.343	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		104	530	0	0	0	1	0	104	530				
GPR17	2840	broad.mit.edu	37	2	128408687	128408687	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128408687C>T	ENST00000272644.3	+	3	536	c.462C>T	c.(460-462)agC>agT	p.S154S	LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000544369.1_Silent_p.S154S|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	154					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCATCAGCGCCGACCGTT	0.607																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(460-462)agC>agT		G protein-coupled receptor 17							125.0	104.0	111.0					2																	128408687		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408687C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.462C>T	2.37:g.128408687C>T						GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Silent_p.S154S|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron	p.S154S	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1073	+	Colorectal(110;0.1)	Ovarian(717;0.15)	154					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.462C>T	CCDS2148.1																																																																																				0.607	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			62	682	0	0	0	1	0	62	682				
VIMP	55829	broad.mit.edu	37	15	101813029	101813029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101813029C>A	ENST00000398226.3	-	6	549	c.517G>T	c.(517-519)Gct>Tct	p.A173S	VIMP_ENST00000537379.1_Missense_Mutation_p.A173S|VIMP_ENST00000531964.1_Missense_Mutation_p.A150S|VIMP_ENST00000526049.1_Missense_Mutation_p.A173S			Q9BQE4	SELS_HUMAN	VCP-interacting membrane protein	173					cell redox homeostasis (GO:0045454)|cellular response to insulin stimulus (GO:0032869)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oxidative stress (GO:0034599)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of tumor necrosis factor production (GO:0032720)|regulation of gluconeogenesis (GO:0006111)|regulation of nitric oxide metabolic process (GO:0080164)|response to glucose (GO:0009749)|response to redox state (GO:0051775)|retrograde protein transport, ER to cytosol (GO:0030970)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|selenium binding (GO:0008430)										CAGGAGCAAGCTCCGCCTCCT	0.468																																						ENST00000398226.3																			0											c.(517-519)Gct>Tct		VCP-interacting membrane protein							33.0	35.0	34.0					15																	101813029		1944	4135	6079	SO:0001583	missense	55829							g.chr15:101813029C>A	AF328864	CCDS53979.1	15q26.3	2012-10-02			ENSG00000131871	ENSG00000131871			30396	protein-coding gene	gene with protein product	"""selenoprotein S"""	607918				16227999, 16186510	Standard	NM_018445		Approved	SELS, MGC2553, SBBI8, AD-015, SEPS1	uc021sxu.1	Q9BQE4	OTTHUMG00000166441	ENST00000398226.3:c.517G>T	15.37:g.101813029C>A	ENSP00000381282:p.Ala173Ser					VIMP_ENST00000537379.1_Missense_Mutation_p.A173S|VIMP_ENST00000531964.1_Missense_Mutation_p.A150S|VIMP_ENST00000526049.1_Missense_Mutation_p.A173S	p.A173S							6	549	-								Q3B771|Q9P0I6	Missense_Mutation	SNP	ENST00000398226.3	37	c.517G>T	CCDS53979.1	.	.	.	.	.	.	.	.	.	.	C	1.305	-0.603680	0.03717	.	.	ENSG00000131871	ENST00000398226;ENST00000537379;ENST00000531964;ENST00000526049;ENST00000528346	.	.	.	5.71	-5.46	0.02608	.	0.477530	0.24912	N	0.034609	T	0.09069	0.0224	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.27706	-1.0066	9	0.02654	T	1	-1.1801	5.2364	0.15448	0.2061:0.3139:0.0:0.48	.	173;173	Q6GYA4;Q9BQE4	.;SELS_HUMAN	S	173;173;150;173;213	.	ENSP00000381282:A173S	A	-	1	0	AC023024.1	99630552	0.001000	0.12720	0.001000	0.08648	0.603000	0.37013	-1.496000	0.02291	-1.379000	0.02118	-0.946000	0.02672	GCT		0.468	VIMP-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389784.2	NM_018445		10	57	1	0	1.08611e-07	1	1.12939e-07	10	57				
NCOA3	8202	broad.mit.edu	37	20	46277853	46277853	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46277853G>A	ENST00000371998.3	+	19	3842	c.3651G>A	c.(3649-3651)caG>caA	p.Q1217Q	NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000341724.6_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1217	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						tgagctcccaggtgaggatga	0.507																																						ENST00000371998.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.e19+1		nuclear receptor coactivator 3							63.0	55.0	57.0					20																	46277853		2203	4300	6503	SO:0001630	splice_region_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46277853G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3651+1G>A	20.37:g.46277853G>A						NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000341724.6_Intron	p.Q1217_splice			Q9Y6Q9	NCOA3_HUMAN			19	3842	+			1217			Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	37	c.3651_splice	CCDS13407.1																																																																																				0.507	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	Silent	32	176	0	0	0	1	0	32	176				
SREBF1	6720	broad.mit.edu	37	17	17723477	17723477	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17723477T>G	ENST00000261646.5	-	2	634	c.450A>C	c.(448-450)ccA>ccC	p.P150P	SREBF1_ENST00000338854.5_Silent_p.P150P|SREBF1_ENST00000435530.2_Silent_p.P150P|SREBF1_ENST00000355815.4_Silent_p.P180P|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000395757.1_5'Flank	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	150	Pro/Ser-rich.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGCTGGGGCTGGGAAGCTCT	0.667																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(538-540)ccA>ccC		sterol regulatory element binding transcription factor 1							19.0	23.0	21.0					17																	17723477		2200	4292	6492	SO:0001819	synonymous_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17723477T>G	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.450A>C	17.37:g.17723477T>G						SREBF1_ENST00000261646.5_Silent_p.P150P|SREBF1_ENST00000435530.2_Silent_p.P150P|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000338854.5_Silent_p.P150P	p.P180P	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			3	709	-			150					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	c.540A>C	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	T	8.920	0.960746	0.18583	.	.	ENSG00000072310	ENST00000395751	.	.	.	4.58	-9.16	0.00694	.	.	.	.	.	T	0.16171	0.0389	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.12785	-1.0534	4	.	.	.	-0.7168	2.8146	0.05452	0.248:0.381:0.25:0.121	.	.	.	.	R	158	.	.	S	-	1	0	SREBF1	17664202	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-1.339000	0.02652	-2.550000	0.00480	0.454000	0.30748	AGC		0.667	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		5	206	0	0	0	1	0	5	206				
KCNIP4	80333	broad.mit.edu	37	4	20852254	20852254	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20852254C>A	ENST00000382152.2	-	3	367	c.200G>T	c.(199-201)aGg>aTg	p.R67M	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R42M|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R5M|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	67	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGGCCGATGCCTGACGGTGGC	0.483																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(124-126)aGg>aTg		Kv channel interacting protein 4							69.0	68.0	68.0					4																	20852254		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20852254C>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.200G>T	4.37:g.20852254C>A	ENSP00000371587:p.Arg67Met					KCNIP4_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R5M|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382152.2_Missense_Mutation_p.R67M	p.R42M	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			2	461	-		Breast(46;0.134)	67			KIS (By similarity).		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.125G>T	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181768	0.94885	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.73152	-0.72;1.96;-0.72;1.96;-0.69;-0.69	5.42	5.42	0.78866	.	0.205201	0.51477	D	0.000081	T	0.81034	0.4739	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.62365	0.981;0.991;0.991;0.991	P;P;P;P	0.50590	0.591;0.645;0.551;0.645	D	0.84538	0.0637	10	0.72032	D	0.01	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	42;46;50;67	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	M	42;33;46;5;67;5;5	ENSP00000371583:R42M;ENSP00000399080:R33M;ENSP00000371585:R46M;ENSP00000371587:R67M;ENSP00000423257:R5M;ENSP00000351892:R5M	ENSP00000351892:R5M	R	-	2	0	KCNIP4	20461352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.521000	0.84997	0.655000	0.94253	AGG		0.483	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		12	278	1	0	1.08611e-07	1	1.12939e-07	12	278				
FCRL4	83417	broad.mit.edu	37	1	157551412	157551412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157551412G>A	ENST00000271532.1	-	7	1293	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	386					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CGGCGACAAGGCCATCTCTGT	0.582																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1156-1158)ggC>ggT		Fc receptor-like 4							42.0	42.0	42.0					1																	157551412		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551412G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1158C>T	1.37:g.157551412G>A						FCRL4_ENST00000448509.2_5'UTR	p.G386G	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			7	1293	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	386					Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.1158C>T	CCDS1166.1																																																																																				0.582	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		60	146	0	0	0	1	0	60	146				
FAM222B	55731	broad.mit.edu	37	17	27085570	27085570	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27085570C>T	ENST00000341217.5	-	3	1622	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q	FAM222B_ENST00000581407.1_Silent_p.Q469Q|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.Q469Q	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	469																	TGGCAAGGTCCTGAGACCCCG	0.657																																						ENST00000341217.5																			0											c.(1405-1407)caG>caA		family with sequence similarity 222, member B							39.0	40.0	40.0					17																	27085570		1987	4151	6138	SO:0001819	synonymous_variant	55731							g.chr17:27085570C>T	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.1407G>A	17.37:g.27085570C>T						FAM222B_ENST00000581407.1_Silent_p.Q469Q|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.Q469Q	p.Q469Q	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN			3	1622	-			469					Q9H6F3|Q9NVJ4|Q9NXN6	Silent	SNP	ENST00000341217.5	37	c.1407G>A	CCDS45637.1																																																																																				0.657	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		7	292	0	0	0	1	0	7	292				
SNX31	169166	broad.mit.edu	37	8	101608911	101608911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101608911C>T	ENST00000311812.2	-	10	1084	c.934G>A	c.(934-936)Gtt>Att	p.V312I	SNX31_ENST00000428383.2_Missense_Mutation_p.V213I|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	312					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATCTGGAAAACGATGTCCTGG	0.502																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(934-936)Gtt>Att		sorting nexin 31							114.0	111.0	112.0					8																	101608911		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101608911C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.934G>A	8.37:g.101608911C>T	ENSP00000312368:p.Val312Ile					SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.V213I	p.V312I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		10	1084	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		312					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.934G>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737498	0.03111	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22945	2.27;1.93	4.25	-2.68	0.06041	.	1.281140	0.05355	N	0.532635	T	0.08537	0.0212	N	0.00823	-1.155	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.32903	-0.9889	10	0.31617	T	0.26	0.8174	9.798	0.40746	0.0:0.4637:0.0:0.5363	.	213;312	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	312;213	ENSP00000312368:V312I;ENSP00000405024:V213I	ENSP00000312368:V312I	V	-	1	0	SNX31	101678087	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	0.098000	0.15189	-0.575000	0.05982	-1.155000	0.01812	GTT		0.502	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		51	435	0	0	0	1	0	51	435				
OMA1	115209	broad.mit.edu	37	1	59004545	59004545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:59004545C>T	ENST00000371226.3	-	2	535	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	141					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AGCTTGAAACCGTGGAGAAGT	0.393																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(421-423)cGg>cAg		OMA1 zinc metallopeptidase							130.0	135.0	133.0					1																	59004545		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59004545C>T	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.422G>A	1.37:g.59004545C>T	ENSP00000360270:p.Arg141Gln					OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|DAB1_ENST00000485760.1_Intron	p.R141Q	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			2	535	-	all_cancers(7;6.54e-05)		141					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.422G>A	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310058	0.60414	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.33654	2.47;2.48;1.85;1.83;1.83;1.4	5.35	-0.103	0.13609	.	0.705120	0.13458	N	0.386390	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B;B	0.33739	0.185;0.422	B;B	0.25506	0.021;0.061	T	0.15407	-1.0438	9	.	.	.	-0.1038	7.6729	0.28470	0.0:0.3024:0.4728:0.2248	.	141;141	Q96E52;Q96E52-2	OMA1_HUMAN;.	Q	141	ENSP00000351417:R141Q;ENSP00000360270:R141Q;ENSP00000395053:R141Q;ENSP00000409589:R141Q;ENSP00000416495:R141Q;ENSP00000392978:R141Q	.	R	-	2	0	OMA1	58777133	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.072000	0.11486	0.164000	0.19529	0.655000	0.94253	CGG		0.393	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		65	583	0	0	0	1	0	65	583				
DNM1	1759	broad.mit.edu	37	9	130984801	130984801	+	Missense_Mutation	SNP	G	G	A	rs148695604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130984801G>A	ENST00000372923.3	+	8	1146	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	DNM1_ENST00000341179.7_Missense_Mutation_p.D352N|DNM1_ENST00000486160.1_Missense_Mutation_p.D352N|DNM1_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	352					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGATCAGATCGACACCTACGA	0.602																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1054-1056)Gac>Aac		dynamin 1		G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	92.0	89.0	90.0		1054,1054	6.0	1.0	9	dbSNP_134	90	0,8600		0,0,4300	no	missense,missense	DNM1	NM_001005336.1,NM_004408.2	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	352/852,352/865	130984801	1,13005	2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130984801G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1054G>A	9.37:g.130984801G>A	ENSP00000362014:p.Asp352Asn					DNM1_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000372923.3_Missense_Mutation_p.D352N|DNM1_ENST00000486160.1_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N	p.D352N	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			8	1146	+			352					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1054G>A	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028944	0.93518	2.27E-4	0.0	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	6.03	6.03	0.97812	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	N	0.19112	0.55	0.80722	D	1	D;P;D	0.67145	0.996;0.954;0.996	P;B;P	0.57009	0.767;0.441;0.811	T	0.65784	-0.6084	10	0.21540	T	0.41	-6.6582	20.5596	0.99324	0.0:0.0:1.0:0.0	.	352;352;352	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	N	352;352;352;347;352;352	ENSP00000419225:D352N;ENSP00000345680:D352N;ENSP00000362014:D352N;ENSP00000377219:D352N;ENSP00000420045:D352N	ENSP00000345680:D352N	D	+	1	0	DNM1	130024622	1.000000	0.71417	0.973000	0.42090	0.876000	0.50452	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	GAC		0.602	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		70	403	0	0	0	1	0	70	403				
DUSP15	128853	broad.mit.edu	37	20	30452778	30452778	+	Missense_Mutation	SNP	C	C	T	rs148170076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30452778C>T	ENST00000278979.3	-	4	233	c.157G>A	c.(157-159)Gct>Act	p.A53T	DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	53					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGTATCAGCGACCGGGATG	0.582																																						ENST00000278979.3																			0				large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7						c.(157-159)Gct>Act		dual specificity phosphatase 15		C	,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	150.0	133.0	138.0		,166,	3.6	1.0	20	dbSNP_134	138	0,8600		0,0,4300	no	utr-5,missense,utr-5	DUSP15	NM_001012644.1,NM_080611.3,NM_177991.1	,58,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign,	,56/236,	30452778	1,13005	2203	4300	6503	SO:0001583	missense	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30452778C>T		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.157G>A	20.37:g.30452778C>T	ENSP00000278979:p.Ala53Thr					DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398083.1_5'UTR	p.A53T			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	233	-			53					A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	37	c.157G>A		.	.	.	.	.	.	.	.	.	.	C	16.41	3.114975	0.56505	2.27E-4	0.0	ENSG00000149599	ENST00000278979;ENST00000339738;ENST00000375966	D;D;D	0.85556	-2.0;-2.0;-2.0	5.63	3.59	0.41128	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.314349	0.34362	N	0.004033	T	0.77308	0.4111	L	0.42487	1.325	0.80722	D	1	B;P	0.44044	0.152;0.825	B;B	0.41332	0.038;0.354	T	0.72283	-0.4339	10	0.25751	T	0.34	.	7.4858	0.27432	0.1531:0.5807:0.2663:0.0	.	56;53	Q9H1R2-3;Q9H1R2	.;DUS15_HUMAN	T	53;56;53	ENSP00000278979:A53T;ENSP00000341658:A56T;ENSP00000365133:A53T	ENSP00000278979:A53T	A	-	1	0	DUSP15	29916439	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.626000	0.37039	1.304000	0.44892	0.561000	0.74099	GCT		0.582	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		7	363	0	0	0	1	0	7	363				
PGLYRP2	114770	broad.mit.edu	37	19	15580712	15580712	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15580712A>G	ENST00000340880.4	-	4	1852	c.1372T>C	c.(1372-1374)Tac>Cac	p.Y458H	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.Y458H	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	458					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGTCCCTCGTACACGTAGCCG	0.706																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1372-1374)Tac>Cac		peptidoglycan recognition protein 2							12.0	15.0	14.0					19																	15580712		2179	4257	6436	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15580712A>G	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1372T>C	19.37:g.15580712A>G	ENSP00000345968:p.Tyr458His					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.Y458H	p.Y458H			Q96PD5	PGRP2_HUMAN			4	1501	-			458					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1372T>C	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691722	0.88735	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.16457	2.34;2.34	5.12	5.12	0.69794	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.90145	3.09	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.58763	-0.7579	10	0.87932	D	0	-23.3948	12.8485	0.57844	1.0:0.0:0.0:0.0	.	458;458	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	H	458	ENSP00000345968:Y458H;ENSP00000292609:Y458H	ENSP00000292609:Y458H	Y	-	1	0	PGLYRP2	15441712	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.939000	0.87685	1.935000	0.56089	0.379000	0.24179	TAC		0.706	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		22	82	0	0	0	1	0	22	82				
CHRNA4	1137	broad.mit.edu	37	20	61981955	61981955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981955C>T	ENST00000370263.4	-	5	1029	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	270					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCGCCACACTCGGAGGGCAGG	0.597																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(808-810)Gag>Aag		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						244.0	183.0	204.0					20																	61981955		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981955C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.808G>A	20.37:g.61981955C>T	ENSP00000359285:p.Glu270Lys					CHRNA4_ENST00000463705.1_5'UTR	p.E270K	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1029	-	all_cancers(38;1.71e-10)		270					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.808G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290988	0.80914	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.72615	-0.67	5.06	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.379961	0.31542	N	0.007480	T	0.70456	0.3226	L	0.55834	1.745	0.53688	D	0.999979	D;P	0.53462	0.96;0.807	P;B	0.46110	0.504;0.208	T	0.74864	-0.3519	10	0.87932	D	0	.	15.1965	0.73096	0.0:0.8582:0.1418:0.0	.	199;270	Q4VAQ5;P43681	.;ACHA4_HUMAN	K	176;270;199	ENSP00000359285:E270K	ENSP00000359280:E176K	E	-	1	0	CHRNA4	61452399	0.999000	0.42202	0.111000	0.21465	0.881000	0.50899	3.987000	0.56944	1.050000	0.40346	0.655000	0.94253	GAG		0.597	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			58	284	0	0	0	1	0	58	284				
FAM135A	57579	broad.mit.edu	37	6	71235308	71235308	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71235308A>C	ENST00000418814.2	+	15	3135	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H|FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	841										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GACATCCATAAACTCTCTACC	0.323																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(2521-2523)Aac>Cac		family with sequence similarity 135, member A							52.0	51.0	51.0					6																	71235308		2202	4295	6497	SO:0001583	missense	57579							g.chr6:71235308A>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2521A>C	6.37:g.71235308A>C	ENSP00000410768:p.Asn841His					FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H	p.N841H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	3135	+			841					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.2521A>C	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234751	0.58886	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.999	T	0.59663	-0.7412	10	0.51188	T	0.08	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	841;841;645;628	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	H	841;628;628;645;841	ENSP00000410768:N841H;ENSP00000359510:N628H;ENSP00000409201:N628H;ENSP00000354913:N645H;ENSP00000423307:N841H	ENSP00000354913:N645H	N	+	1	0	FAM135A	71292029	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.843000	0.92142	2.289000	0.77006	0.482000	0.46254	AAC		0.323	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		44	173	0	0	0	1	0	44	173				
AKAP7	9465	broad.mit.edu	37	6	131602681	131602681	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131602681G>A	ENST00000431975.2	+	8	960	c.862G>A	c.(862-864)Gga>Aga	p.G288R	AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R|AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R|AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	288						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGAACGGAGGGGAGCC	0.507																																						ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(862-864)Gga>Aga		A kinase (PRKA) anchor protein 7							58.0	59.0	58.0					6																	131602681		2203	4300	6503	SO:0001583	missense	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131602681G>A	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.862G>A	6.37:g.131602681G>A	ENSP00000405252:p.Gly288Arg					AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R|AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R	p.G288R	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	8	960	+	Breast(56;0.152)		44					B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.862G>A	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859363	0.32884	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.31769	1.48;1.48	5.8	3.01	0.34805	Protein kinase A anchor protein, RI-RII subunit-binding domain (1);	0.743893	0.13078	N	0.415487	T	0.05044	0.0135	N	0.12182	0.205	0.29526	N	0.853124	B;P;B	0.37276	0.358;0.589;0.141	B;B;B	0.30105	0.111;0.111;0.028	T	0.26292	-1.0107	10	0.30078	T	0.28	-5.9237	7.7353	0.28810	0.1489:0.1412:0.7099:0.0	.	21;44;288	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	R	288;266;24;21;44	ENSP00000405252:G288R;ENSP00000357105:G266R	ENSP00000263050:G24R	G	+	1	0	AKAP7	131644374	0.996000	0.38824	0.915000	0.36163	0.992000	0.81027	2.395000	0.44459	0.772000	0.33382	0.655000	0.94253	GGA		0.507	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		32	191	0	0	0	1	0	32	191				
CUL4B	8450	broad.mit.edu	37	X	119674407	119674407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119674407C>A	ENST00000404115.3	-	13	1909	c.1508G>T	c.(1507-1509)aGc>aTc	p.S503I	CUL4B_ENST00000371322.5_Missense_Mutation_p.S485I|CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	503					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACAATAGTGCTGCCAAATGC	0.294																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1453-1455)aGc>aTc		cullin 4B							52.0	48.0	49.0					X																	119674407		2201	4294	6495	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119674407C>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1508G>T	X.37:g.119674407C>A	ENSP00000384109:p.Ser503Ile					CUL4B_ENST00000404115.3_Missense_Mutation_p.S503I|CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I	p.S485I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			11	1515	-			503	G -> D (in Ref. 4; CAD97843).				B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1454G>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	7.939	0.742296	0.15642	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73575	-0.76;-0.76;-0.76	5.42	4.55	0.56014	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	L	0.33710	1.025	0.80722	D	1	B;P;P	0.35684	0.004;0.515;0.459	B;B;B	0.37015	0.015;0.239;0.154	T	0.60642	-0.7223	9	.	.	.	-10.2043	14.4351	0.67274	0.0:0.8559:0.1441:0.0	.	307;503;485	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	I	485;490;503	ENSP00000360373:S485I;ENSP00000338919:S490I;ENSP00000384109:S503I	.	S	-	2	0	CUL4B	119558435	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	5.954000	0.70298	1.055000	0.40461	-0.346000	0.07831	AGC		0.294	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		37	133	1	0	2.51541e-25	1	2.88513e-25	37	133				
PLA2G4D	283748	broad.mit.edu	37	15	42364020	42364020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42364020C>T	ENST00000290472.3	-	15	1619	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	509	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ATCAGCCGTCCCATGAAGAAC	0.612																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1525-1527)Gga>Aga		phospholipase A2, group IVD (cytosolic)							49.0	52.0	51.0					15																	42364020		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364020C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1525G>A	15.37:g.42364020C>T	ENSP00000290472:p.Gly509Arg						p.G509R	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	15	1619	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	509			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1525G>A	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349577	0.61183	.	.	ENSG00000159337	ENST00000290472	T	0.51325	0.71	4.79	3.86	0.44501	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.076843	0.49916	N	0.000126	T	0.75715	0.3887	M	0.93462	3.42	0.52099	D	0.999943	D	0.89917	1.0	D	0.97110	1.0	T	0.82890	-0.0233	10	0.87932	D	0	-29.4707	14.5948	0.68397	0.0:0.8528:0.1472:0.0	.	509	Q86XP0	PA24D_HUMAN	R	509	ENSP00000290472:G509R	ENSP00000290472:G509R	G	-	1	0	PLA2G4D	40151312	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	5.846000	0.69444	0.997000	0.38969	-0.305000	0.09177	GGA		0.612	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		69	369	0	0	0	1	0	69	369				
MCTP2	55784	broad.mit.edu	37	15	95013650	95013650	+	Missense_Mutation	SNP	C	C	T	rs202093309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:95013650C>T	ENST00000357742.4	+	20	2449	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	817					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATTCCACTGCGGTACATCAT	0.408																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(2449-2451)Cgg>Tgg		multiple C2 domains, transmembrane 2		C	TRP/ARG,TRP/ARG	0,4394		0,0,2197	173.0	162.0	166.0		2284,2449	5.3	1.0	15		166	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	MCTP2	NM_001159643.1,NM_018349.3	101,101	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	762/824,817/879	95013650	1,12989	2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95013650C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2449C>T	15.37:g.95013650C>T	ENSP00000350377:p.Arg817Trp					MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	p.R817W	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		20	2449	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		817					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.2449C>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052804	0.75960	0.0	1.16E-4	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.78003	-1.14;-0.56	5.32	5.32	0.75619	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90842	0.4724	10	0.87932	D	0	.	12.5357	0.56140	0.2773:0.7227:0.0:0.0	.	762;817	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	W	762;817	ENSP00000395109:R762W;ENSP00000350377:R817W	ENSP00000350377:R817W	R	+	1	2	MCTP2	92814654	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.820000	0.55693	2.645000	0.89757	0.650000	0.86243	CGG		0.408	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		87	494	0	0	0	1	0	87	494				
ARFGEF1	10565	broad.mit.edu	37	8	68200271	68200271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68200271C>T	ENST00000262215.3	-	7	1335	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	316			G -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGGTTTTCTCCGTCATATAAC	0.294																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(946-948)Gga>Aga		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							194.0	186.0	189.0					8																	68200271		2202	4300	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68200271C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.946G>A	8.37:g.68200271C>T	ENSP00000262215:p.Gly316Arg						p.G316R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		7	1335	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	316		G -> E (in a colorectal cancer sample; somatic mutation).			Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.946G>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244567	0.59103	.	.	ENSG00000066777	ENST00000262215	T	0.18960	2.18	5.39	5.39	0.77823	Armadillo-type fold (1);	0.132011	0.52532	D	0.000071	T	0.19685	0.0473	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06006	-1.0851	10	0.17832	T	0.49	.	19.5127	0.95148	0.0:1.0:0.0:0.0	.	316	Q9Y6D6	BIG1_HUMAN	R	316	ENSP00000262215:G316R	ENSP00000262215:G316R	G	-	1	0	ARFGEF1	68362825	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.952000	0.56691	2.688000	0.91661	0.460000	0.39030	GGA		0.294	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		68	393	0	0	0	1	0	68	393				
KCNK9	51305	broad.mit.edu	37	8	140714984	140714984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714984G>T	ENST00000520439.1	-	1	315	c.252C>A	c.(250-252)ttC>ttA	p.F84L	KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	84					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TCGCAAAGTAGAAGGAGCCGG	0.677																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(250-252)ttC>ttA		potassium channel, subfamily K, member 9							38.0	39.0	38.0					8																	140714984		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140714984G>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.252C>A	8.37:g.140714984G>T	ENSP00000430676:p.Phe84Leu					KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	p.F84L			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		1	315	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	84					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.252C>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909430	0.72868	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.26067	1.76;1.76;1.76	3.87	2.99	0.34606	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.28344	0.845	0.58432	D	0.999993	P	0.44195	0.828	P	0.50934	0.654	T	0.01884	-1.1254	10	0.42905	T	0.14	.	7.3744	0.26821	0.2046:0.0:0.7954:0.0	.	84	Q9NPC2	KCNK9_HUMAN	L	84	ENSP00000429847:F84L;ENSP00000302166:F84L;ENSP00000430676:F84L	ENSP00000302166:F84L	F	-	3	2	KCNK9	140784166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.417000	0.59822	0.716000	0.32124	0.555000	0.69702	TTC		0.677	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		19	118	1	0	5.03518e-11	1	5.3609e-11	19	118				
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51791720C>T	ENST00000251076.5	-	18	3988	c.3701G>A	c.(3700-3702)aGa>aAa	p.R1234K	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3700-3702)aGa>aAa		Dmx-like 2							185.0	159.0	168.0					15																	51791720		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791720C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3701G>A	15.37:g.51791720C>T	ENSP00000251076:p.Arg1234Lys					DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|DMXL2_ENST00000449909.3_Intron	p.R1234K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3988	-			1234					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3701G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509808	0.85282	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.30714	1.53;1.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.80764	0.994;0.965	T	0.55685	-0.8102	10	0.56958	D	0.05	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	1234;1234	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1234	ENSP00000251076:R1234K;ENSP00000441858:R1234K	ENSP00000251076:R1234K	R	-	2	0	DMXL2	49579012	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.461000	0.80834	2.645000	0.89757	0.591000	0.81541	AGA		0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		100	502	0	0	0	1	0	100	502				
IFT88	8100	broad.mit.edu	37	13	21212570	21212570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21212570G>A	ENST00000319980.6	+	19	1840	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	IFT88_ENST00000382778.4_Missense_Mutation_p.A505T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T|IFT88_ENST00000351808.5_Missense_Mutation_p.A496T	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	505					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TACAGTTTTTGCAAATGGTGA	0.368																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1513-1515)Gca>Aca		intraflagellar transport 88 homolog (Chlamydomonas)							98.0	104.0	102.0					13																	21212570		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21212570G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1513G>A	13.37:g.21212570G>A	ENSP00000323580:p.Ala505Thr					IFT88_ENST00000351808.5_Missense_Mutation_p.A496T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T|IFT88_ENST00000319980.6_Missense_Mutation_p.A505T	p.A505T			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	18	2631	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	505					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1513G>A	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725880	0.48833	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.115379	0.64402	D	0.000016	T	0.36138	0.0956	N	0.11756	0.17	0.39382	D	0.966273	P;B;P	0.43231	0.547;0.02;0.801	B;B;B	0.38156	0.117;0.043;0.266	T	0.29243	-1.0018	10	0.13470	T	0.59	-19.7492	13.1671	0.59577	0.0728:0.0:0.9272:0.0	.	477;303;505	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	T	505;368;496;505;477	ENSP00000372228:A505T;ENSP00000261632:A496T;ENSP00000323580:A505T;ENSP00000437719:A477T	ENSP00000323580:A505T	A	+	1	0	IFT88	20110570	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.208000	0.72165	2.710000	0.92621	0.561000	0.74099	GCA		0.368	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		93	438	0	0	0	1	0	93	438				
CLEC11A	6320	broad.mit.edu	37	19	51226907	51226907	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51226907A>T	ENST00000250340.4	+	1	322	c.125A>T	c.(124-126)gAg>gTg	p.E42V	CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	42					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		gaggagcgggagagggaggCC	0.637																																						ENST00000250340.4																			0				kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(124-126)gAg>gTg		C-type lectin domain family 11, member A							57.0	57.0	57.0					19																	51226907		2203	4300	6503	SO:0001583	missense	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51226907A>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.125A>T	19.37:g.51226907A>T	ENSP00000250340:p.Glu42Val					CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	p.E42V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	322	+		all_neural(266;0.057)	42					B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	37	c.125A>T	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838773	0.51057	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.46819	0.86	3.09	3.09	0.35607	.	0.279407	0.22182	N	0.063482	T	0.34308	0.0893	L	0.27053	0.805	0.32344	N	0.55937	P	0.45348	0.856	B	0.42995	0.404	T	0.50013	-0.8877	10	0.87932	D	0	-10.7094	7.8693	0.29556	1.0:0.0:0.0:0.0	.	42	Q9Y240	CLC11_HUMAN	V	42	ENSP00000250340:E42V	ENSP00000250340:E42V	E	+	2	0	CLEC11A	55918719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.855000	0.48333	1.430000	0.47334	0.379000	0.24179	GAG		0.637	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		45	141	0	0	0	1	0	45	141				
BTN2A3P	54718	broad.mit.edu	37	6	26431102	26431102	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26431102G>T	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											TCGACAGTCAGCTTTGTGTCC	0.517																																						ENST00000466808.2																			0																				138.0	137.0	137.0					6																	26431102		2203	4300	6503			0							g.chr6:26431102G>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431102G>T														0	1447	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.517	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		20	536	1	0	3.62473e-10	1	3.83521e-10	20	536				
UVRAG	7405	broad.mit.edu	37	11	75851896	75851896	+	Silent	SNP	A	A	G	rs143874379	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75851896A>G	ENST00000356136.3	+	15	1780	c.1539A>G	c.(1537-1539)agA>agG	p.R513R	UVRAG_ENST00000533454.1_Silent_p.R141R|UVRAG_ENST00000539288.1_Silent_p.R141R|UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000531818.1_Silent_p.R141R|UVRAG_ENST00000538870.1_Silent_p.R69R	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	513					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAATGAGAGACTTCAGTACA	0.527																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1537-1539)agA>agG		UV radiation resistance associated							95.0	91.0	92.0					11																	75851896		2200	4292	6492	SO:0001819	synonymous_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75851896A>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1539A>G	11.37:g.75851896A>G						UVRAG_ENST00000538870.1_Silent_p.R69R|UVRAG_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000539288.1_Silent_p.R141R|UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000531818.1_Silent_p.R141R|UVRAG_ENST00000533454.1_Silent_p.R141R	p.R513R	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			15	1780	+			513					B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	c.1539A>G	CCDS8241.1																																																																																				0.527	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		33	389	0	0	0	1	0	33	389				
FOXF1	2294	broad.mit.edu	37	16	86544232	86544232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86544232C>T	ENST00000262426.4	+	1	100	c.57C>T	c.(55-57)ggC>ggT	p.G19G	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	19					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						gcggcggcggcgggggaggcg	0.776																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(55-57)ggC>ggT		forkhead box F1							2.0	3.0	2.0					16																	86544232		1341	2962	4303	SO:0001819	synonymous_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544232C>T	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.57C>T	16.37:g.86544232C>T							p.G19G	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	100	+			19					B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	37	c.57C>T	CCDS10957.2																																																																																				0.776	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		12	23	0	0	0	1	0	12	23				
GRB10	2887	broad.mit.edu	37	7	50694671	50694671	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50694671A>C	ENST00000401949.1	-	8	978	c.509T>G	c.(508-510)gTt>gGt	p.V170G	GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000403097.1_Missense_Mutation_p.V164G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	170	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAAGACTTTAACATCCTGCAA	0.383									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(490-492)gTt>gGt		growth factor receptor-bound protein 10							216.0	211.0	212.0					7																	50694671		1936	4138	6074	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50694671A>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.509T>G	7.37:g.50694671A>C	ENSP00000385770:p.Val170Gly					GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000401949.1_Missense_Mutation_p.V170G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G	p.V164G			Q13322	GRB10_HUMAN			7	1271	-	Glioma(55;0.08)|all_neural(89;0.245)		170					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.491T>G	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471788	0.84533	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.18	5.18	0.71444	Ras-association (3);	0.059542	0.64402	D	0.000002	T	0.46132	0.1377	M	0.73598	2.24	0.80722	D	1	D;D;D	0.62365	0.991;0.987;0.985	D;P;D	0.68039	0.94;0.875;0.955	T	0.49844	-0.8896	10	0.87932	D	0	-16.112	15.0634	0.71973	1.0:0.0:0.0:0.0	.	164;170;170	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	G	170;164;112;112;112;164;112;170;112;170;112	ENSP00000381793:V170G;ENSP00000406716:V164G;ENSP00000338543:V112G;ENSP00000381790:V112G;ENSP00000385189:V112G;ENSP00000385544:V164G;ENSP00000385366:V112G;ENSP00000349818:V170G;ENSP00000385046:V112G;ENSP00000385770:V170G;ENSP00000385748:V112G	ENSP00000338543:V112G	V	-	2	0	GRB10	50662165	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.339000	0.96797	1.961000	0.56991	0.533000	0.62120	GTT		0.383	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			187	815	0	0	0	1	0	187	815				
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650402C>A	ENST00000455915.2	-	10	2639	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	RANGAP1_ENST00000356244.3_Missense_Mutation_p.E390D|RANGAP1_ENST00000405486.1_Missense_Mutation_p.E390D|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E335D			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2																			1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1168-1170)gaG>gaT		Ran GTPase activating protein 1							233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650402C>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>T	22.37:g.41650402C>A	ENSP00000401470:p.Glu390Asp					RANGAP1_ENST00000405486.1_Missense_Mutation_p.E390D|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E390D|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E335D	p.E390D			P46060	RAGP1_HUMAN			10	2639	-			390			Asp/Glu-rich (highly acidic).		Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1170G>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147037	0.21288	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	4.39	-6.97	0.01616	Armadillo-like helical (1);	0.774989	0.12248	N	0.485859	D	0.87321	0.6148	L	0.56769	1.78	0.43480	D	0.995701	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.002	T	0.63042	-0.6725	10	0.22706	T	0.39	-3.7269	7.3865	0.26884	0.0:0.4191:0.1138:0.4671	.	335;390	F8W7I9;P46060	.;RAGP1_HUMAN	D	390;390;390;390;335	ENSP00000385866:E390D;ENSP00000348577:E390D;ENSP00000401470:E390D;ENSP00000385354:E335D	ENSP00000348577:E390D	E	-	3	2	RANGAP1	39980348	0.000000	0.05858	0.489000	0.27452	0.024000	0.10985	-5.147000	0.00147	-1.197000	0.02673	-1.327000	0.01280	GAG		0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		43	250	1	0	8.16277e-20	1	9.1228e-20	43	250				
HTT	3064	broad.mit.edu	37	4	3144596	3144596	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3144596A>G	ENST00000355072.5	+	23	3194	c.3049A>G	c.(3049-3051)Acc>Gcc	p.T1017A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1017					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AATCACATCAACCACCAGAGC	0.383																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(3049-3051)Acc>Gcc		huntingtin							174.0	163.0	166.0					4																	3144596		1930	4140	6070	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3144596A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3049A>G	4.37:g.3144596A>G	ENSP00000347184:p.Thr1017Ala						p.T1017A	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	23	3194	+		all_epithelial(65;0.18)	1017					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.3049A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042956	0.55003	.	.	ENSG00000197386	ENST00000355072	T	0.05382	3.45	5.24	5.24	0.73138	Armadillo-type fold (1);	0.051878	0.85682	D	0.000000	T	0.09158	0.0226	M	0.62723	1.935	0.50813	D	0.999893	P	0.39940	0.696	B	0.37601	0.254	T	0.02581	-1.1138	10	0.72032	D	0.01	.	10.9659	0.47412	0.8601:0.0:0.0:0.1399	.	1017	P42858	HD_HUMAN	A	1017	ENSP00000347184:T1017A	ENSP00000347184:T1017A	T	+	1	0	HTT	3114394	1.000000	0.71417	0.829000	0.32907	0.989000	0.77384	5.669000	0.68081	1.977000	0.57605	0.528000	0.53228	ACC		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		100	489	0	0	0	1	0	100	489				
ENPEP	2028	broad.mit.edu	37	4	111436590	111436590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111436590G>A	ENST00000265162.5	+	8	1843	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	501					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTTTCAAAAAGGATGTCAGGT	0.294																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1501-1503)Gga>Aga		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						85.0	90.0	89.0					4																	111436590		2202	4296	6498	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111436590G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1501G>A	4.37:g.111436590G>A	ENSP00000265162:p.Gly501Arg					RP11-380D23.1_ENST00000503998.1_RNA	p.G501R	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	8	1843	+		Hepatocellular(203;0.217)	501					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1501G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876316	0.91664	.	.	ENSG00000138792	ENST00000265162	T	0.06218	3.33	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69202	-0.5207	10	0.87932	D	0	.	19.5811	0.95468	0.0:0.0:1.0:0.0	.	501	Q07075	AMPE_HUMAN	R	501	ENSP00000265162:G501R	ENSP00000265162:G501R	G	+	1	0	ENPEP	111656039	1.000000	0.71417	0.966000	0.40874	0.898000	0.52572	9.452000	0.97615	2.643000	0.89663	0.650000	0.86243	GGA		0.294	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			27	176	0	0	0	1	0	27	176				
PIK3C2B	5287	broad.mit.edu	37	1	204416604	204416604	+	Missense_Mutation	SNP	G	G	A	rs201178287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204416604G>A	ENST00000367187.3	-	16	3005	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	817	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTAAGCTTGCGCTGGTCTTCT	0.552													G|||	3	0.000599042	0.0	0.0014	5008	,	,		15902	0.0		0.002	False		,,,				2504	0.0					ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2449-2451)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		2449	4.2	0.8	1		77	0,8600		0,0,4300	yes	missense	PIK3C2B	NM_002646.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	817/1635	204416604	1,13005	2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204416604G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2449C>T	1.37:g.204416604G>A	ENSP00000356155:p.Arg817Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	p.R817C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		16	3005	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		817					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.2449C>T	CCDS1446.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	17.37	3.373570	0.61624	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.64260	-0.09;-0.08	5.08	4.16	0.48862	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.380247	0.25827	N	0.028051	T	0.60130	0.2245	L	0.54323	1.7	0.35802	D	0.823181	P;P	0.52463	0.953;0.62	P;B	0.47162	0.54;0.326	T	0.70029	-0.4984	10	0.59425	D	0.04	.	8.7611	0.34676	0.0:0.159:0.5768:0.2641	.	817;817	F5GWN5;O00750	.;P3C2B_HUMAN	C	817	ENSP00000356155:R817C;ENSP00000400561:R817C	ENSP00000356155:R817C	R	-	1	0	PIK3C2B	202683227	0.992000	0.36948	0.838000	0.33150	0.807000	0.45602	1.313000	0.33585	1.263000	0.44181	0.462000	0.41574	CGC		0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		35	334	0	0	0	1	0	35	334				
LOC645752	645752	broad.mit.edu	37	15	78211580	78211580	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78211580G>A	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCACCTCCTGCCTCAGGTGT	0.542																																						ENST00000565869.1																			0																																																			0							g.chr15:78211580G>A																													15.37:g.78211580G>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.542	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			106	473	0	0	0	1	0	106	473				
B4GALNT1	2583	broad.mit.edu	37	12	58021501	58021501	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58021501G>A	ENST00000341156.4	-	10	1868	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	B4GALNT1_ENST00000418555.2_Silent_p.G373G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	428					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACCACGCAGCCTGGGAAGC	0.687																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1282-1284)ggC>ggT		beta-1,4-N-acetyl-galactosaminyl transferase 1							17.0	22.0	20.0					12																	58021501		2193	4293	6486	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58021501G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1284C>T	12.37:g.58021501G>A						B4GALNT1_ENST00000418555.2_Silent_p.G373G	p.G428G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1868	-	Melanoma(17;0.122)		428					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.1284C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418635	0.25552	.	.	ENSG00000135454	ENST00000547741	.	.	.	4.5	1.5	0.22942	.	.	.	.	.	T	0.52484	0.1737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41770	-0.9490	4	.	.	.	-12.4085	6.1097	0.20094	0.2443:0.1513:0.6043:0.0	.	.	.	.	V	111	.	.	A	-	2	0	B4GALNT1	56307768	1.000000	0.71417	0.942000	0.38095	0.965000	0.64279	3.843000	0.55865	0.502000	0.28037	0.462000	0.41574	GCT		0.687	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		8	121	0	0	0	1	0	8	121				
GOLGB1	2804	broad.mit.edu	37	3	121417334	121417334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121417334G>A	ENST00000340645.5	-	13	2146	c.2021C>T	c.(2020-2022)gCt>gTt	p.A674V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A679V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	674					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCTGGTACAGCAGAAAGGGA	0.363																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(2035-2037)gCt>gTt		golgin B1							78.0	80.0	79.0					3																	121417334		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417334G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2021C>T	3.37:g.121417334G>A	ENSP00000341848:p.Ala674Val					GOLGB1_ENST00000340645.5_Missense_Mutation_p.A674V	p.A679V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2146	-			674					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2036C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	6.489	0.458457	0.12342	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23552	2.49;2.49;1.9	4.36	-0.732	0.11147	.	0.415295	0.22857	N	0.054782	T	0.14485	0.0350	L	0.38838	1.175	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.003;0.0;0.001;0.0	B;B;B;B;B	0.13407	0.002;0.009;0.002;0.007;0.002	T	0.13872	-1.0493	10	0.31617	T	0.26	.	3.3697	0.07216	0.2961:0.0:0.3445:0.3594	.	599;638;679;679;674	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	674;679;638;486	ENSP00000341848:A674V;ENSP00000377275:A679V;ENSP00000418231:A638V	ENSP00000341848:A674V	A	-	2	0	GOLGB1	122900024	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	0.123000	0.15708	-0.039000	0.13602	0.655000	0.94253	GCT		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		33	367	0	0	0	1	0	33	367				
EXTL1	2134	broad.mit.edu	37	1	26349755	26349755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349755G>A	ENST00000374280.3	+	1	1485	c.618G>A	c.(616-618)ccG>ccA	p.P206P	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCCACCCGTTGCGAGGTG	0.687																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(616-618)ccG>ccA		exostosin-like glycosyltransferase 1							16.0	17.0	17.0					1																	26349755		2201	4295	6496	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349755G>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.618G>A	1.37:g.26349755G>A						EXTL1_ENST00000484339.1_3'UTR	p.P206P	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1485	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	206					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.618G>A	CCDS271.1																																																																																				0.687	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		31	108	0	0	0	1	0	31	108				
TRAP1	10131	broad.mit.edu	37	16	3724437	3724437	+	Missense_Mutation	SNP	C	C	T	rs151069865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3724437C>T	ENST00000246957.5	-	9	1035	c.947G>A	c.(946-948)cGc>cAc	p.R316H	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H|TRAP1_ENST00000575671.1_Missense_Mutation_p.R107H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	316					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCGACGTAGCGGTAGAACTC	0.607																																						ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(319-321)cGc>cAc		TNF receptor-associated protein 1		C	HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	190.0	110.0	137.0		947	5.8	1.0	16	dbSNP_134	137	0,8600		0,0,4300	no	missense	TRAP1	NM_016292.2	29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	316/705	3724437	2,12992	2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3724437C>T	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.947G>A	16.37:g.3724437C>T	ENSP00000246957:p.Arg316His					TRAP1_ENST00000246957.5_Missense_Mutation_p.R316H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H	p.R107H			Q12931	TRAP1_HUMAN			4	1049	-		Ovarian(90;0.0261)	316					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.320G>A	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000810	0.74818	4.55E-4	0.0	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09630	2.96;2.96	5.82	5.82	0.92795	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.65677	2.01	0.80722	D	1	P;P	0.51449	0.933;0.945	P;P	0.57324	0.586;0.818	T	0.00198	-1.1929	10	0.72032	D	0.01	-28.6882	19.0936	0.93240	0.0:1.0:0.0:0.0	.	263;316	F5H897;Q12931	.;TRAP1_HUMAN	H	316;263	ENSP00000246957:R316H;ENSP00000442070:R263H	ENSP00000246957:R316H	R	-	2	0	TRAP1	3664438	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.424000	0.80242	2.757000	0.94681	0.655000	0.94253	CGC		0.607	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		31	205	0	0	0	1	0	31	205				
DDR1	780	broad.mit.edu	37	6	30860156	30860156	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860156C>A	ENST00000324771.8	+	10	1484	c.936C>A	c.(934-936)gcC>gcA	p.A312A	DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000454612.2_Silent_p.A312A|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000418800.2_Silent_p.A312A|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000513240.1_Silent_p.A312A|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	312	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGCCATGGCCTGGGAGGGGG	0.687																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(934-936)gcC>gcA		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						35.0	36.0	36.0					6																	30860156		2202	4299	6501	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30860156C>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.936C>A	6.37:g.30860156C>A						DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A|DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000513240.1_Silent_p.A312A|DDR1_ENST00000454612.2_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000418800.2_Silent_p.A312A	p.A312A			Q08345	DDR1_HUMAN			10	1484	+			312					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.936C>A	CCDS34385.1																																																																																				0.687	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		65	287	1	0	6.8682e-38	1	8.26113e-38	65	287				
PDE4DIP	9659	broad.mit.edu	37	1	144879119	144879119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144879119C>A	ENST00000369354.3	-	27	4520	c.4331G>T	c.(4330-4332)aGa>aTa	p.R1444I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1580I|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1444					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGGATACTCTCTGGATGAG	0.562			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4738-4740)aGa>aTa		phosphodiesterase 4D interacting protein							104.0	114.0	111.0					1																	144879119		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879119C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4331G>T	1.37:g.144879119C>A	ENSP00000358360:p.Arg1444Ile					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1444I	p.R1580I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4777	-			1444			NBPF.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4739G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225105	0.95173	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.03212	4.01;4.06;4.02;4.05;4.07	5.82	5.82	0.92795	.	.	.	.	.	T	0.12050	0.0293	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.00295	-1.1839	9	0.87932	D	0	.	17.5829	0.87973	0.0:1.0:0.0:0.0	.	1400;1444	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	1400;1444;1444;1580;1580	ENSP00000327209:R1400I;ENSP00000358360:R1444I;ENSP00000358363:R1444I;ENSP00000435654:R1580I;ENSP00000358366:R1580I	ENSP00000327209:R1400I	R	-	2	0	PDE4DIP	143590476	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.774000	0.75012	2.765000	0.95021	0.591000	0.81541	AGA		0.562	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		31	701	1	0	7.26314e-15	1	7.90818e-15	31	701				
RAC2	5880	broad.mit.edu	37	22	37637646	37637646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37637646C>T	ENST00000249071.6	-	2	209	c.88G>A	c.(88-90)Gga>Aga	p.G30R	RAC2_ENST00000401529.3_Missense_Mutation_p.G30R|RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000405484.1_Missense_Mutation_p.G23R	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	30					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	ATGTACTCTCCGGGAAAGGCG	0.617																																						ENST00000249071.6																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(88-90)Gga>Aga		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							189.0	171.0	177.0					22																	37637646		2203	4300	6503	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37637646C>T	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.88G>A	22.37:g.37637646C>T	ENSP00000249071:p.Gly30Arg					RAC2_ENST00000405484.1_Missense_Mutation_p.G23R|RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000401529.3_Missense_Mutation_p.G30R	p.G30R	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			2	209	-			30					Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.88G>A	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915662	0.52546	.	.	ENSG00000128340	ENST00000249071;ENST00000405484;ENST00000441619;ENST00000401529	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.62	3.54	0.40534	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	L	0.57130	1.785	0.80722	D	1	P	0.35944	0.529	B	0.35971	0.215	T	0.70539	-0.4844	10	0.87932	D	0	.	11.6402	0.51228	0.0:0.8554:0.0:0.1446	.	30	P15153	RAC2_HUMAN	R	30;23;30;30	ENSP00000249071:G30R;ENSP00000385590:G23R;ENSP00000403778:G30R;ENSP00000385666:G30R	ENSP00000249071:G30R	G	-	1	0	RAC2	35967592	1.000000	0.71417	0.577000	0.28562	0.080000	0.17528	7.548000	0.82154	0.744000	0.32741	-0.136000	0.14681	GGA		0.617	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			100	421	0	0	0	1	0	100	421				
TRIM69	140691	broad.mit.edu	37	15	45050992	45050992	+	Missense_Mutation	SNP	G	G	T	rs372211170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45050992G>T	ENST00000559390.1	+	5	1681	c.753G>T	c.(751-753)aaG>aaT	p.K251N	TRIM69_ENST00000338264.4_Missense_Mutation_p.K92N|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558329.1_Missense_Mutation_p.K47N|TRIM69_ENST00000329464.4_Missense_Mutation_p.K251N|TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000558173.1_Missense_Mutation_p.K47N			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	251					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCTTAGCCAAGGATATGTTGG	0.453																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(139-141)aaG>aaT		tripartite motif containing 69		G	ASN/LYS,ASN/LYS	1,4395	2.1+/-5.4	0,1,2197	80.0	69.0	73.0		276,753	2.8	1.0	15		73	0,8596		0,0,4298	no	missense,missense	TRIM69	NM_080745.3,NM_182985.3	94,94	0,1,6495	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	92/342,251/501	45050992	1,12991	2198	4298	6496	SO:0001583	missense	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45050992G>T	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.753G>T	15.37:g.45050992G>T	ENSP00000453177:p.Lys251Asn					TRIM69_ENST00000338264.4_Missense_Mutation_p.K92N|TRIM69_ENST00000329464.4_Missense_Mutation_p.K251N|TRIM69_ENST00000558329.1_Missense_Mutation_p.K47N|TRIM69_ENST00000559390.1_Missense_Mutation_p.K251N|TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000561043.1_Intron	p.K47N			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	2	4886	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	251			Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.141G>T	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004820	0.54254	2.27E-4	0.0	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.57107	1.07;0.42	5.97	2.82	0.32997	.	0.201253	0.35040	N	0.003492	T	0.57651	0.2068	L	0.36672	1.1	0.32131	N	0.586813	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77004	0.984;0.989;0.959	T	0.61367	-0.7077	10	0.39692	T	0.17	.	8.6543	0.34053	0.194:0.0:0.806:0.0	.	47;92;251	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	N	251;92	ENSP00000332284:K251N;ENSP00000342922:K92N	ENSP00000332284:K251N	K	+	3	2	TRIM69	42838284	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	2.160000	0.42348	0.296000	0.22592	0.591000	0.81541	AAG		0.453	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			6	163	1	0	0.217242	1	0.217458	6	163				
PCDH10	57575	broad.mit.edu	37	4	134072528	134072528	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134072528T>G	ENST00000264360.5	+	1	2059	c.1233T>G	c.(1231-1233)aaT>aaG	p.N411K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTTAAGAATTACTACACCA	0.607																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1231-1233)aaT>aaG		protocadherin 10							152.0	161.0	158.0					4																	134072528		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072528T>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1233T>G	4.37:g.134072528T>G	ENSP00000264360:p.Asn411Lys						p.N411K	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2059	+			411			Cadherin 4.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1233T>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806162	0.50421	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01705	4.68	4.68	0.389	0.16269	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000174	T	0.07593	0.0191	M	0.78223	2.4	0.52501	D	0.999956	D;D	0.76494	0.999;0.975	D;P	0.87578	0.998;0.838	T	0.03619	-1.1019	10	0.51188	T	0.08	.	8.2866	0.31932	0.0:0.6128:0.0:0.3872	.	411;411	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	411	ENSP00000264360:N411K	ENSP00000264360:N411K	N	+	3	2	PCDH10	134291978	0.995000	0.38212	1.000000	0.80357	0.968000	0.65278	0.404000	0.20999	0.110000	0.17919	0.459000	0.35465	AAT		0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		247	1174	0	0	0	1	0	247	1174				
BRCA2	675	broad.mit.edu	37	13	32953972	32953972	+	Silent	SNP	T	T	C	rs80359736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32953972T>C	ENST00000380152.3	+	23	9272	c.9039T>C	c.(9037-9039)acT>acC	p.T3013T	BRCA2_ENST00000544455.1_Silent_p.T3013T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3013			T -> I (in BC; unknown pathological significance; dbSNP:rs28897755). {ECO:0000269|PubMed:15026808, ECO:0000269|PubMed:15635067}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCTTGCAACTTCAAAATCTA	0.328			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9037-9039)acT>acC	Homologous recombination	breast cancer 2, early onset							57.0	57.0	57.0					13																	32953972		2203	4294	6497	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32953972T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9039T>C	13.37:g.32953972T>C		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.T3013T	p.T3013T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	23	9266	+		Lung SC(185;0.0262)	3013		T -> I (in BC; unknown pathological significance).			O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.9039T>C	CCDS9344.1																																																																																				0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		40	203	0	0	0	1	0	40	203				
PGD	5226	broad.mit.edu	37	1	10473299	10473299	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10473299A>G	ENST00000270776.8	+	8	873	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	PGD_ENST00000541529.1_Missense_Mutation_p.T257A|PGD_ENST00000538557.1_Missense_Mutation_p.T266A	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	279					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CGTACCCGTCACCCTCATTGG	0.537																																						ENST00000538557.1																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14						c.(796-798)Acc>Gcc		phosphogluconate dehydrogenase							85.0	67.0	73.0					1																	10473299		2203	4300	6503	SO:0001583	missense	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10473299A>G	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.835A>G	1.37:g.10473299A>G	ENSP00000270776:p.Thr279Ala					PGD_ENST00000270776.8_Missense_Mutation_p.T279A|PGD_ENST00000541529.1_Missense_Mutation_p.T257A	p.T266A			P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	8	1040	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	279					A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	c.796A>G	CCDS113.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724706	0.89298	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.45668	0.89;0.89;0.89	5.06	5.06	0.68205	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.79424	-0.1809	10	0.87932	D	0	-26.9004	15.1463	0.72653	1.0:0.0:0.0:0.0	.	257;279;279	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	A	257;225;279;266	ENSP00000442285:T257A;ENSP00000270776:T279A;ENSP00000437822:T266A	ENSP00000270776:T279A	T	+	1	0	PGD	10395886	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.224000	0.95209	2.043000	0.60533	0.519000	0.50382	ACC		0.537	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		29	216	0	0	0	1	0	29	216				
MPPE1	65258	broad.mit.edu	37	18	11887014	11887014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:11887014C>T	ENST00000588072.1	-	7	1801	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V194I|MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000344987.7_Missense_Mutation_p.V194I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	194					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						ACGCTGTTGACCATCACAAAG	0.527																																						ENST00000588072.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(580-582)Gtc>Atc		metallophosphoesterase 1							48.0	47.0	47.0					18																	11887014		2203	4300	6503	SO:0001583	missense	65258				ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity	g.chr18:11887014C>T	BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.580G>A	18.37:g.11887014C>T	ENSP00000465894:p.Val194Ile					MPPE1_ENST00000344987.7_Missense_Mutation_p.V194I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V194I|MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I|MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I	p.V194I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN			7	1801	-			194					B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	ENST00000588072.1	37	c.580G>A	CCDS11853.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080787	0.36758	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;T;T	0.67523	2.3;2.3;2.3;-0.27;2.3	5.2	4.33	0.51752	Calcineurin-like phosphoesterase superfamily domain (1);	0.189358	0.45361	N	0.000364	T	0.67702	0.2921	L	0.42581	1.335	0.47862	D	0.999535	D;P;D;P;D;B	0.63880	0.993;0.521;0.99;0.708;0.987;0.391	P;B;P;B;P;B	0.60345	0.873;0.111;0.872;0.269;0.873;0.264	T	0.62872	-0.6762	10	0.17832	T	0.49	-8.2786	8.7735	0.34747	0.1489:0.7752:0.0:0.0759	.	194;194;97;194;194;194	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	I	194;194;97;194;194	ENSP00000327257:V194I;ENSP00000311200:V194I;ENSP00000312935:V97I;ENSP00000339423:V194I;ENSP00000382860:V194I	ENSP00000311200:V194I	V	-	1	0	MPPE1	11877014	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	2.348000	0.44045	1.189000	0.43028	-0.140000	0.14226	GTC		0.527	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075		5	197	0	0	0	1	0	5	197				
MYO9B	4650	broad.mit.edu	37	19	17212778	17212778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17212778C>A	ENST00000594824.1	+	2	398	c.251C>A	c.(250-252)cCt>cAt	p.P84H	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000595618.1_Missense_Mutation_p.P84H|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H			Q13459	MYO9B_HUMAN	myosin IXB	84	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AACGACTCGCCTGTGCACCGG	0.637																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(250-252)cCt>cAt		myosin IXB							41.0	47.0	45.0					19																	17212778		2056	4185	6241	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212778C>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.251C>A	19.37:g.17212778C>A	ENSP00000471367:p.Pro84His					MYO9B_ENST00000594824.1_Missense_Mutation_p.P84H|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H	p.P84H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	403	+			84			Myosin head-like.|Ras-associating.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.251C>A		.	.	.	.	.	.	.	.	.	.	C	19.40	3.820121	0.71028	.	.	ENSG00000099331	ENST00000397274	T	0.60672	0.17	4.93	4.93	0.64822	Ras-association (3);	0.000000	0.47852	D	0.000208	T	0.76198	0.3954	M	0.75615	2.305	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79249	-0.1881	10	0.62326	D	0.03	.	17.1436	0.86760	0.0:1.0:0.0:0.0	.	84;84;90	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	84	ENSP00000380444:P84H	ENSP00000380444:P84H	P	+	2	0	MYO9B	17073778	1.000000	0.71417	0.082000	0.20525	0.720000	0.41350	7.517000	0.81783	2.264000	0.75181	0.655000	0.94253	CCT		0.637	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			7	144	1	0	0.000157383	1	0.000159814	7	144				
NETO1	81832	broad.mit.edu	37	18	70417299	70417299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417299C>A	ENST00000327305.6	-	9	2196	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	513					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATACTGACCGCTGGACGGCTT	0.433																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1537-1539)caG>caT		neuropilin (NRP) and tolloid (TLL)-like 1							79.0	70.0	73.0					18																	70417299		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417299C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1539G>T	18.37:g.70417299C>A	ENSP00000313088:p.Gln513His					NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H	p.Q513H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	2196	-		Esophageal squamous(42;0.129)	513					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1539G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436457	0.83885	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.24723	1.84;1.85	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000023	T	0.45236	0.1332	L	0.41236	1.265	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.78314	0.991;0.979	T	0.11966	-1.0566	10	0.44086	T	0.13	-8.9025	19.973	0.97292	0.0:1.0:0.0:0.0	.	512;513	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	513;512	ENSP00000313088:Q513H;ENSP00000299430:Q512H	ENSP00000299430:Q512H	Q	-	3	2	NETO1	68568279	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.452000	0.80683	2.725000	0.93324	0.460000	0.39030	CAG		0.433	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		54	225	1	0	9.53978e-28	1	1.10624e-27	54	225				
ASB4	51666	broad.mit.edu	37	7	95157465	95157465	+	Silent	SNP	C	C	T	rs146416403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157465C>T	ENST00000325885.5	+	3	899	c.828C>T	c.(826-828)gcC>gcT	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		21063	0.0		0.001	False		,,,				2504	0.0					ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(826-828)gcC>gcT		ankyrin repeat and SOCS box containing 4							79.0	60.0	66.0					7																	95157465		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95157465C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.828C>T	7.37:g.95157465C>T			OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Silent_p.A276A	p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	899	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		276					A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.828C>T	CCDS5641.1																																																																																				0.577	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		60	231	0	0	0	1	0	60	231				
CLK2	1196	broad.mit.edu	37	1	155236524	155236524	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155236524G>A	ENST00000368361.4	-	7	1149	c.834C>T	c.(832-834)gtC>gtT	p.V278V	CLK2_ENST00000361168.5_Silent_p.V277V|CLK2_ENST00000355560.4_Silent_p.V276V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.V278V			P49760	CLK2_HUMAN	CDC-like kinase 2	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTCACACTTGACAGCCTGGC	0.572								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(832-834)gtC>gtT	Other conserved DNA damage response genes	CDC-like kinase 2							86.0	78.0	81.0					1																	155236524		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155236524G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.834C>T	1.37:g.155236524G>A						CLK2_ENST00000536801.1_Silent_p.V278V|CLK2_ENST00000355560.4_Silent_p.V276V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.V277V	p.V278V			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1149	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		278			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.834C>T																																																																																					0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		53	147	0	0	0	1	0	53	147				
ASB4	51666	broad.mit.edu	37	7	95157228	95157228	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157228C>T	ENST00000325885.5	+	3	662	c.591C>T	c.(589-591)caC>caT	p.H197H	ASB4_ENST00000428113.1_Silent_p.H197H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	197					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ACGTGGAACACGGGGCCATAG	0.607											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(589-591)caC>caT		ankyrin repeat and SOCS box containing 4							79.0	66.0	70.0					7																	95157228		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95157228C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.591C>T	7.37:g.95157228C>T			OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Silent_p.H197H	p.H197H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	662	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		197					A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.591C>T	CCDS5641.1																																																																																				0.607	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		7	279	0	0	0	1	0	7	279				
ZC3HAV1L	92092	broad.mit.edu	37	7	138711299	138711299	+	Silent	SNP	G	G	A	rs368597211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138711299G>A	ENST00000275766.1	-	5	905	c.894C>T	c.(892-894)tgC>tgT	p.C298C		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	298										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTACTTCTCGCAAGACACTG	0.378																																						ENST00000275766.1																			0				NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(892-894)tgC>tgT		zinc finger CCCH-type, antiviral 1-like							89.0	88.0	89.0					7																	138711299		2203	4300	6503	SO:0001819	synonymous_variant	92092							g.chr7:138711299G>A	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.894C>T	7.37:g.138711299G>A							p.C298C	NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN			5	905	-			298					Q8WUD9	Silent	SNP	ENST00000275766.1	37	c.894C>T	CCDS5850.1																																																																																				0.378	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		36	223	0	0	0	1	0	36	223				
KCNQ3	3786	broad.mit.edu	37	8	133187774	133187774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133187774G>A	ENST00000388996.4	-	5	1279	c.859C>T	c.(859-861)Cca>Tca	p.P287S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	287					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCACCTCTGGGACGTCTTTC	0.502																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(859-861)Cca>Tca		potassium voltage-gated channel, KQT-like subfamily, member 3							135.0	127.0	130.0					8																	133187774		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133187774G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.859C>T	8.37:g.133187774G>A	ENSP00000373648:p.Pro287Ser					KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S	p.P287S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	1279	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		287					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.859C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174095	0.57692	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97430	-4.38;-4.38;-4.38	5.39	5.39	0.77823	Ion transport (1);	0.061356	0.64402	D	0.000003	D	0.96703	0.8924	L	0.39514	1.22	0.40614	D	0.981702	P;B	0.48089	0.905;0.44	P;B	0.52823	0.71;0.138	D	0.97520	1.0072	10	0.66056	D	0.02	-15.9165	18.5028	0.90888	0.0:0.0:1.0:0.0	.	287;287	E7ET42;O43525	.;KCNQ3_HUMAN	S	287;167;287;276;166	ENSP00000373648:P287S;ENSP00000429799:P167S;ENSP00000428790:P287S	ENSP00000373648:P287S	P	-	1	0	KCNQ3	133256956	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	4.478000	0.60230	2.674000	0.91012	0.655000	0.94253	CCA		0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		54	318	0	0	0	1	0	54	318				
C2orf16	84226	broad.mit.edu	37	2	27801528	27801528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801528G>A	ENST00000408964.2	+	1	2140	c.2089G>A	c.(2089-2091)Gtt>Att	p.V697I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	697						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCCTCCTAAAGTTATGGAAAC	0.408																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(2089-2091)Gtt>Att		chromosome 2 open reading frame 16							75.0	71.0	72.0					2																	27801528		1863	4106	5969	SO:0001583	missense	84226							g.chr2:27801528G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2089G>A	2.37:g.27801528G>A	ENSP00000386190:p.Val697Ile						p.V697I	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	2140	+	Acute lymphoblastic leukemia(172;0.155)		697					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2089G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	3.289	-0.145322	0.06627	.	.	ENSG00000221843	ENST00000408964	T	0.07567	3.18	4.27	1.33	0.21861	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.23419	0.046	T	0.46624	-0.9178	9	0.19590	T	0.45	.	2.6937	0.05128	0.1072:0.1794:0.5284:0.185	.	697	Q68DN1	CB016_HUMAN	I	697	ENSP00000386190:V697I	ENSP00000386190:V697I	V	+	1	0	C2orf16	27655032	0.556000	0.26538	0.135000	0.22099	0.102000	0.19082	0.941000	0.29005	0.277000	0.22141	-0.264000	0.10439	GTT		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		70	474	0	0	0	1	0	70	474				
DPP3	10072	broad.mit.edu	37	11	66254796	66254796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254796G>A	ENST00000360510.2	+	5	621	c.556G>A	c.(556-558)Gac>Aac	p.D186N	DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000532677.1_Missense_Mutation_p.D205N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000531863.1_Missense_Mutation_p.D206N			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	186					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATTGGCCCAGGACTTTCTGGA	0.537																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(613-615)Gac>Aac		dipeptidyl-peptidase 3							134.0	120.0	125.0					11																	66254796		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66254796G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.556G>A	11.37:g.66254796G>A	ENSP00000353701:p.Asp186Asn					DPP3_ENST00000531863.1_Missense_Mutation_p.D206N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000360510.2_Missense_Mutation_p.D186N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N	p.D205N	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			5	1014	+			186					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.613G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482673	0.44147	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.89	3.72	0.42706	.	0.310982	0.39407	N	0.001362	T	0.17662	0.0424	L	0.54965	1.715	0.32206	N	0.577221	B;B	0.15719	0.014;0.005	B;B	0.22152	0.022;0.038	T	0.06356	-1.0831	10	0.32370	T	0.25	.	5.0196	0.14354	0.2599:0.0:0.7401:0.0	.	205;186	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	206;205;186;186;186;84;156;156;84;84;186	ENSP00000432782:D206N;ENSP00000435284:D205N;ENSP00000353701:D186N;ENSP00000389943:D186N;ENSP00000440502:D186N;ENSP00000437101:D84N;ENSP00000431606:D156N;ENSP00000436941:D156N;ENSP00000434518:D84N;ENSP00000432618:D186N	ENSP00000353701:D186N	D	+	1	0	DPP3	66011372	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.591000	0.46163	2.415000	0.81967	0.655000	0.94253	GAC		0.537	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			57	254	0	0	0	1	0	57	254				
DOCK4	9732	broad.mit.edu	37	7	111381614	111381614	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111381614C>A	ENST00000437633.1	-	45	5130	c.4874G>T	c.(4873-4875)aGg>aTg	p.R1625M	DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M|DOCK4_ENST00000428084.1_Missense_Mutation_p.R1634M	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1625					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGGAATTACCCTGGTACCATC	0.463																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4900-4902)aGg>aTg		dedicator of cytokinesis 4							72.0	69.0	70.0					7																	111381614		1887	4123	6010	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111381614C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4874G>T	7.37:g.111381614C>A	ENSP00000404179:p.Arg1625Met					DOCK4_ENST00000437633.1_Missense_Mutation_p.R1625M|DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M	p.R1634M			Q8N1I0	DOCK4_HUMAN			46	5173	-		Acute lymphoblastic leukemia(1;0.0441)	1625					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.4901G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869810|3.869810	0.72065|0.72065	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.08370	.|3.9;3.1;3.89	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	.|0.143180	.|0.64402	.|D	.|0.000010	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.47716|0.47716	1.5|1.5	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D;D;D;D	.|0.76494	.|0.995;0.997;0.999;0.999;0.997	.|D;D;D;D;D	.|0.71414	.|0.922;0.973;0.96;0.96;0.973	T|T	0.00677|0.00677	-1.1614|-1.1614	5|10	.|0.72032	.|D	.|0.01	.|.	14.0431|14.0431	0.64689|0.64689	0.0:0.9275:0.0:0.0724|0.0:0.9275:0.0:0.0724	.|.	.|532;508;1670;1625;1634	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	W|M	1086;1658|1613;1634;508;1625;1622	.|ENSP00000410746:R1634M;ENSP00000440944:R508M;ENSP00000404179:R1625M	.|ENSP00000345432:R1622M	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111168850|111168850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.359000|5.359000	0.66074|0.66074	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	95	1	0	6.5536e-12	1	7.0158e-12	7	95				
NYNRIN	57523	broad.mit.edu	37	14	24884117	24884117	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884117C>T	ENST00000382554.3	+	9	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1054					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTGGACATCGACCTCCTGC	0.652																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3160-3162)atC>atT		NYN domain and retroviral integrase containing							77.0	92.0	87.0					14																	24884117		2068	4200	6268	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884117C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3162C>T	14.37:g.24884117C>T							p.I1054I	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3480	+			1054					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3162C>T	CCDS45090.1																																																																																				0.652	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			75	375	0	0	0	1	0	75	375				
NCOA5	57727	broad.mit.edu	37	20	44692047	44692047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44692047G>A	ENST00000290231.6	-	7	1266	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCCGCTCTCGCAGGTAGTTG	0.577																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1102-1104)Cga>Tga		nuclear receptor coactivator 5							74.0	66.0	68.0					20																	44692047		2203	4300	6503	SO:0001587	stop_gained	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44692047G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1102C>T	20.37:g.44692047G>A	ENSP00000290231:p.Arg368*						p.R368*	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			7	1266	-		Myeloproliferative disorder(115;0.0122)	368					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	37	c.1102C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534672	0.96460	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.41	5.41	0.78517	.	0.102256	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.982	13.8224	0.63331	0.0:0.0:0.8372:0.1628	.	.	.	.	X	368	.	ENSP00000290231:R368X	R	-	1	2	NCOA5	44125454	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.055000	0.41345	2.816000	0.96949	0.561000	0.74099	CGA		0.577	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		10	254	0	0	0	1	0	10	254				
PYGO2	90780	broad.mit.edu	37	1	154932183	154932183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932183G>T	ENST00000368457.2	-	3	464	c.293C>A	c.(292-294)cCt>cAt	p.P98H	RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	98	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGGGCACAGGACTGCCAAG	0.642																																					NSCLC(87;357 1460 1955 21029 23522)	ENST00000368457.2																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10						c.(292-294)cCt>cAt		pygopus family PHD finger 2							20.0	22.0	21.0					1																	154932183		2203	4300	6503	SO:0001583	missense	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154932183G>T	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.293C>A	1.37:g.154932183G>T	ENSP00000357442:p.Pro98His					PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H	p.P98H	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	464	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		98			Pro-rich.		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	ENST00000368457.2	37	c.293C>A	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028263	0.54790	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.57107	0.42;0.47	4.85	3.93	0.45458	.	0.839882	0.10411	N	0.677871	T	0.44850	0.1313	N	0.19112	0.55	0.44555	D	0.997518	D	0.89917	1.0	D	0.65987	0.94	T	0.39961	-0.9588	10	0.36615	T	0.2	-0.378	13.4807	0.61334	0.0:0.0:0.8419:0.1581	.	98	Q9BRQ0	PYGO2_HUMAN	H	98;61	ENSP00000357442:P98H;ENSP00000357441:P61H	ENSP00000357441:P61H	P	-	2	0	PYGO2	153198807	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	6.143000	0.71756	1.256000	0.44068	0.455000	0.32223	CCT		0.642	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		36	151	1	0	6.53348e-20	1	7.30415e-20	36	151				
PCDHGC5	56097	broad.mit.edu	37	5	140870737	140870737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870737G>A	ENST00000252087.1	+	1	1930	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAGCAGGTGGTGGTCCT	0.597																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1930-1932)Gtg>Atg									86.0	79.0	81.0					5																	140870737		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870737G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1930G>A	5.37:g.140870737G>A	ENSP00000252087:p.Val644Met					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.V644M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1930	+			644			Cadherin 6.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1930G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477826	0.44044	.	.	ENSG00000240764	ENST00000252087	T	0.21543	2.0	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000173	T	0.30978	0.0782	L	0.49350	1.555	0.30895	N	0.729866	D;P	0.56521	0.976;0.939	P;P	0.56563	0.779;0.801	T	0.30357	-0.9981	10	0.87932	D	0	.	8.2092	0.31473	0.083:0.2734:0.6435:0.0	.	644;644	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	644	ENSP00000252087:V644M	ENSP00000252087:V644M	V	+	1	0	PCDHGC5	140850921	0.453000	0.25721	1.000000	0.80357	0.994000	0.84299	1.513000	0.35823	2.753000	0.94483	0.655000	0.94253	GTG		0.597	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		63	252	0	0	0	1	0	63	252				
OSBPL11	114885	broad.mit.edu	37	3	125266388	125266388	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125266388G>T	ENST00000296220.5	-	10	1992	c.1703C>A	c.(1702-1704)cCc>cAc	p.P568H		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	568					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATATGCACAGGGTAGAGAAAA	0.418																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1702-1704)cCc>cAc		oxysterol binding protein-like 11							124.0	112.0	116.0					3																	125266388		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125266388G>T	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1703C>A	3.37:g.125266388G>T	ENSP00000296220:p.Pro568His						p.P568H	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			10	1992	-			568					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1703C>A	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563636	0.86335	.	.	ENSG00000144909	ENST00000296220	T	0.45668	0.89	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82238	-0.0556	10	0.87932	D	0	-14.7118	18.1718	0.89747	0.0:0.0:1.0:0.0	.	568	Q9BXB4	OSB11_HUMAN	H	568	ENSP00000296220:P568H	ENSP00000296220:P568H	P	-	2	0	OSBPL11	126749078	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.318000	0.96334	2.524000	0.85096	0.467000	0.42956	CCC		0.418	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		67	321	1	0	5.00936e-31	1	5.8875e-31	67	321				
FAM35A	54537	broad.mit.edu	37	10	88946903	88946903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88946903C>T	ENST00000298784.1	+	8	2368	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	FAM35A_ENST00000298786.4_Silent_p.L821L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	752										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGAATCAAAGCTGATAGAGAA	0.383																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2461-2463)Ctg>Ttg		family with sequence similarity 35, member A							155.0	130.0	138.0					10																	88946903		2203	4300	6503	SO:0001819	synonymous_variant	54537							g.chr10:88946903C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2254C>T	10.37:g.88946903C>T						FAM35A_ENST00000298784.1_Silent_p.L752L	p.L821L			Q86V20	FA35A_HUMAN			9	2575	+			752					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2461C>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	C	8.189	0.795558	0.16327	.	.	ENSG00000122376	ENST00000342900	.	.	.	3.13	-0.513	0.11962	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.36929	D	0.891807	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	-4.7816	4.7335	0.12977	0.4:0.4123:0.0:0.1877	.	.	.	.	V	475	.	.	A	+	2	0	FAM35A	88936883	0.229000	0.23729	0.362000	0.25862	0.629000	0.37895	-0.559000	0.05971	0.136000	0.18733	0.194000	0.17425	GCT		0.383	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		46	258	0	0	0	1	0	46	258				
TTN	7273	broad.mit.edu	37	2	179396193	179396193	+	Missense_Mutation	SNP	C	C	A	rs376175862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396193C>A	ENST00000591111.1	-	308	100450	c.100226G>T	c.(100225-100227)aGa>aTa	p.R33409I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35050I|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33409					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)			GAAAACAGATCTGGGGACCTC	0.473																																						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.(105148-105150)aGa>aTa		titin							125.0	123.0	124.0					2																	179396193		1924	4139	6063	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396193C>A	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.100226G>T	2.37:g.179396193C>A	ENSP00000465570:p.Arg33409Ile					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33409I|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA	p.R35050I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	105373	-			33409					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.105149G>T		.	.	.	.	.	.	.	.	.	.	C	13.08	2.129850	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;0.2;0.17;0.22	5.45	2.63	0.31362	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.44095	0.1277	N	0.19112	0.55	0.36256	D	0.854247	B;B;B;B	0.18166	0.026;0.026;0.026;0.026	B;B;B;B	0.22386	0.015;0.015;0.029;0.039	T	0.41124	-0.9526	9	0.87932	D	0	.	5.9207	0.19080	0.0:0.6427:0.1392:0.2181	.	25985;26110;26177;33409	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	32482;25985;26177;26110;25982	ENSP00000343764:R32482I;ENSP00000434586:R25985I;ENSP00000340554:R26177I;ENSP00000352154:R26110I	ENSP00000340554:R26177I	R	-	2	0	TTN	179104439	0.568000	0.26635	0.800000	0.32199	0.836000	0.47400	0.994000	0.29693	0.253000	0.21552	0.650000	0.86243	AGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		105	323	1	0	6.17869e-53	1	7.6938e-53	105	323				
FBXO46	23403	broad.mit.edu	37	19	46216211	46216211	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46216211C>T	ENST00000317683.3	-	2	676	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	181										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCTGCCCGCTGTTCCACCA	0.711																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(541-543)caG>caA		F-box protein 46							9.0	12.0	11.0					19																	46216211		2003	4132	6135	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46216211C>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.543G>A	19.37:g.46216211C>T							p.Q181Q	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	676	-		Ovarian(192;0.179)|all_neural(266;0.224)	181						Silent	SNP	ENST00000317683.3	37	c.543G>A	CCDS46116.1																																																																																				0.711	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		15	59	0	0	0	1	0	15	59				
ZNF749	388567	broad.mit.edu	37	19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T	rs562343206		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	243			Q -> R (in dbSNP:rs12986235).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TATTAAATATCAGCAAAATCA	0.413																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(727-729)Cag>Tag		zinc finger protein 749							56.0	56.0	56.0					19																	57955243		2203	4300	6503	SO:0001587	stop_gained	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955243C>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.727C>T	19.37:g.57955243C>T	ENSP00000333980:p.Gln243*					AC004076.9_ENST00000596831.1_Intron	p.Q243*	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	977	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	243		Q -> R (in dbSNP:rs12986235).				Nonsense_Mutation	SNP	ENST00000334181.4	37	c.727C>T	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005683	0.74932	.	.	ENSG00000186230	ENST00000334181	.	.	.	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.1978	0.20559	0.2992:0.7008:0.0:0.0	.	.	.	.	X	243	.	ENSP00000333980:Q243X	Q	+	1	0	ZNF749	62647055	0.000000	0.05858	0.012000	0.15200	0.330000	0.28571	-0.190000	0.09615	1.243000	0.43853	0.305000	0.20034	CAG		0.413	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		52	222	0	0	0	1	0	52	222				
TUT1	64852	broad.mit.edu	37	11	62343093	62343093	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62343093C>T	ENST00000476907.1	-	9	2789	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	TUT1_ENST00000308436.7_Missense_Mutation_p.V738M|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	700					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGTCCTGCACCATCTCTCCA	0.617																																						ENST00000476907.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2098-2100)Gtg>Atg		terminal uridylyl transferase 1, U6 snRNA-specific							299.0	282.0	288.0					11																	62343093		2202	4299	6501	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62343093C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2098G>A	11.37:g.62343093C>T	ENSP00000419607:p.Val700Met					MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.V738M	p.V700M			Q9H6E5	STPAP_HUMAN			9	2789	-			700					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.2098G>A		.	.	.	.	.	.	.	.	.	.	C	0.390	-0.923826	0.02377	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.36699	1.24;1.26	5.51	-0.811	0.10857	.	1.531760	0.03707	N	0.249627	T	0.20780	0.0500	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.004;0.006	T	0.11299	-1.0593	10	0.20519	T	0.43	1.9335	2.4238	0.04455	0.2349:0.4335:0.1942:0.1374	.	700;738	Q9H6E5;F5H0R1	STPAP_HUMAN;.	M	738;700	ENSP00000308000:V738M;ENSP00000419607:V700M	ENSP00000308000:V738M	V	-	1	0	TUT1	62099669	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-0.646000	0.05403	-0.026000	0.13895	-0.152000	0.13540	GTG		0.617	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		38	2193	0	0	0	1	0	38	2193				
DZIP1L	199221	broad.mit.edu	37	3	137787193	137787193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787193G>A	ENST00000327532.2	-	13	1994	c.1632C>T	c.(1630-1632)agC>agT	p.S544S	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	544					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TGACCAGTGTGCTCTGCTGGC	0.562											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1630-1632)agC>agT		DAZ interacting zinc finger protein 1-like							57.0	63.0	61.0					3																	137787193		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137787193G>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1632C>T	3.37:g.137787193G>A			OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1636	DZIP1L_ENST00000488595.1_5'UTR	p.S544S	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			13	1994	-			544					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1632C>T	CCDS3096.1																																																																																				0.562	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		62	269	0	0	0	1	0	62	269				
BRD4	23476	broad.mit.edu	37	19	15349989	15349989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15349989G>A	ENST00000263377.2	-	18	3884	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1221	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGAAGCTGTCGCTGGATGACT	0.617			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3661-3663)agC>agT		bromodomain containing 4							36.0	37.0	36.0					19																	15349989		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15349989G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3663C>T	19.37:g.15349989G>A							p.S1221S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		18	3884	-			1221					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.3663C>T	CCDS12328.1																																																																																				0.617	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		13	163	0	0	0	1	0	13	163				
H2AFY	9555	broad.mit.edu	37	5	134686592	134686592	+	Intron	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134686592T>C	ENST00000511689.1	-	6	1282				H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000312469.4_Silent_p.V200V|CTC-349C3.1_ENST00000554670.1_3'UTR|H2AFY_ENST00000512507.1_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y						chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCAGCCTGTACAACTTGCA	0.502																																						ENST00000312469.4																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(598-600)gtA>gtG		H2A histone family, member Y							133.0	90.0	105.0					5																	134686592		2203	4300	6503	SO:0001627	intron_variant	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134686592T>C	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.688+2043A>G	5.37:g.134686592T>C						H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000511689.1_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000512507.1_Intron|CTC-203F4.1_ENST00000555438.1_Intron|CTC-203F4.1_ENST00000554670.1_Silent_p.C4C	p.V200V	NM_138609.2	NP_613075.1	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	782	-			200			Macro.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	c.600A>G	CCDS4185.1																																																																																				0.502	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		5	111	0	0	0	1	0	5	111				
BAHD1	22893	broad.mit.edu	37	15	40751121	40751121	+	Missense_Mutation	SNP	G	G	A	rs373140549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751121G>A	ENST00000416165.1	+	2	529	c.458G>A	c.(457-459)cGc>cAc	p.R153H	BAHD1_ENST00000561234.1_Missense_Mutation_p.R153H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	153					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GATCCCCACCGCAGCCGTGAC	0.662																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(457-459)cGc>cAc		bromo adjacent homology domain containing 1		G	HIS/ARG	0,4378		0,0,2189	24.0	31.0	29.0		458	4.4	1.0	15		29	1,8559		0,1,4279	no	missense	BAHD1	NM_014952.3	29	0,1,6468	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	153/781	40751121	1,12937	2189	4280	6469	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751121G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.458G>A	15.37:g.40751121G>A	ENSP00000396976:p.Arg153His					BAHD1_ENST00000416165.1_Missense_Mutation_p.R153H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H	p.R153H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	717	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	153					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.458G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	5.580	0.291807	0.10567	0.0	1.17E-4	ENSG00000140320	ENST00000416165	T	0.18174	2.23	4.44	4.44	0.53790	.	0.229658	0.36778	N	0.002407	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	P;P;P	0.52577	0.954;0.923;0.954	P;B;P	0.45449	0.481;0.288;0.481	T	0.16158	-1.0412	10	0.36615	T	0.2	-20.8915	8.1268	0.31003	0.0:0.246:0.5944:0.1596	.	153;153;153	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	153	ENSP00000396976:R153H	ENSP00000396976:R153H	R	+	2	0	BAHD1	38538413	0.326000	0.24669	0.996000	0.52242	0.132000	0.20833	3.085000	0.50151	2.746000	0.94184	0.650000	0.86243	CGC		0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		33	309	0	0	0	1	0	33	309				
TSPAN10	83882	broad.mit.edu	37	17	79612028	79612028	+	RNA	SNP	G	G	T	rs372786016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79612028G>T	ENST00000572675.1	+	0	47				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAAACTGCAGGCCAGAAGCCC	0.642																																						ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							29.0	33.0	32.0					17																	79612028		2003	4172	6175			83882					integral to membrane		g.chr17:79612028G>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612028G>T						TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	137	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37			.	.	.	.	.	.	.	.	.	.	G	14.24	2.476551	0.44044	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.07444	3.19	4.3	1.18	0.20946	.	0.989793	0.08168	U	0.987521	T	0.07954	0.0199	N	0.24115	0.695	0.09310	N	1	P;P	0.44877	0.845;0.845	B;B	0.44278	0.445;0.347	T	0.37934	-0.9684	10	0.87932	D	0	-0.276	7.1517	0.25614	0.295:0.0:0.705:0.0	.	16;16	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	V	16	ENSP00000331620:G16V	ENSP00000331620:G16V	G	+	2	0	TSPAN10	77222433	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.530000	0.23036	0.118000	0.18165	0.462000	0.41574	GGC		0.642	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		42	213	1	0	6.5261e-18	1	7.22248e-18	42	213				
UBR5	51366	broad.mit.edu	37	8	103274267	103274267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103274267G>T	ENST00000520539.1	-	55	8324	c.7718C>A	c.(7717-7719)cCt>cAt	p.P2573H	UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H|UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2573	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATACATTACAGGATCAAAAAA	0.353																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(7717-7719)cCt>cAt		ubiquitin protein ligase E3 component n-recognin 5							96.0	92.0	93.0					8																	103274267		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103274267G>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7718C>A	8.37:g.103274267G>T	ENSP00000429084:p.Pro2573His					UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H|UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H	p.P2573H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		55	8324	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2573			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.7718C>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301251	0.81136	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.4	5.4	0.78164	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.87269	2.87	0.52501	D	0.999951	D;D	0.65815	0.995;0.995	D;D	0.79784	0.993;0.993	T	0.81309	-0.0991	10	0.59425	D	0.04	.	14.1163	0.65156	0.0:0.0:0.8496:0.1504	.	2566;2573	E7EMW7;O95071	.;UBR5_HUMAN	H	2573;2572;301;2566	ENSP00000429084:P2573H;ENSP00000220959:P2572H;ENSP00000428693:P301H;ENSP00000427819:P2566H	ENSP00000220959:P2572H	P	-	2	0	UBR5	103343443	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.496000	0.81526	2.553000	0.86117	0.580000	0.79431	CCT		0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		64	271	1	0	7.75977e-34	1	9.21251e-34	64	271				
MLLT1	4298	broad.mit.edu	37	19	6213356	6213356	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213356G>A	ENST00000252674.7	-	11	1706	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	515					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGCTGCAGCACGTTGCGC	0.721			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1543-1545)Ctg>Ttg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							53.0	63.0	60.0					19																	6213356		2202	4297	6499	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213356G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1543C>T	19.37:g.6213356G>A						MLLT1_ENST00000585588.1_5'UTR	p.L515L	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			11	1706	-			515					Q14768	Silent	SNP	ENST00000252674.7	37	c.1543C>T	CCDS12160.1																																																																																				0.721	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		165	752	0	0	0	1	0	165	752				
ATP1A2	477	broad.mit.edu	37	1	160109761	160109761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160109761G>A	ENST00000361216.3	+	22	3110	c.3021G>A	c.(3019-3021)cgG>cgA	p.R1007R	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R996R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007			R -> W (in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy). {ECO:0000269|PubMed:23838748}.		adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCCTGCGGCGGTATCCTG	0.587																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(3019-3021)cgG>cgA		ATPase, Na+/K+ transporting, alpha 2 polypeptide							119.0	107.0	111.0					1																	160109761		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109761G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3021G>A	1.37:g.160109761G>A						ATP1A2_ENST00000392233.3_Silent_p.R996R	p.R1007R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		22	3110	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		1007					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.3021G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119542	0.20877	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.37	2.46	0.29980	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	4.6645	0.12659	0.1969:0.1822:0.6209:0.0	.	.	.	.	D	701	.	.	G	+	2	0	ATP1A2	158376385	0.028000	0.19301	0.998000	0.56505	0.942000	0.58702	-0.701000	0.05075	0.564000	0.29238	0.655000	0.94253	GGC		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		135	397	0	0	0	1	0	135	397				
HOXD12	3238	broad.mit.edu	37	2	176965333	176965333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176965333G>A	ENST00000406506.2	+	2	730	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q			P35452	HXD12_HUMAN	homeobox D12	220					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GTTGGAGAACGAATTCCTCGT	0.567																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(658-660)Gaa>Aaa		homeobox D12							35.0	37.0	36.0					2																	176965333		1963	4166	6129	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176965333G>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.658G>A	2.37:g.176965333G>A	ENSP00000385586:p.Glu220Lys					HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q	p.E220K			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	730	+			220					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.658G>A	CCDS46456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.512092|3.512092	0.64522|0.64522	.|.	.|.	ENSG00000170178|ENSG00000170178	ENST00000406506|ENST00000404162	D|.	0.96365|.	-3.99|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83413|0.83413	0.5249|0.5249	M|M	0.82132|0.82132	2.575|2.575	0.39921|0.39921	D|D	0.974155|0.974155	D|D	0.89917|0.89917	1.0|1.0	D|D	0.91635|0.83275	0.999|0.996	D|D	0.86338|0.86338	0.1703|0.1703	10|8	0.87932|0.87932	D|D	0|0	.|.	18.9681|18.9681	0.92704|0.92704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|229	P35452|B5MCD3	HXD12_HUMAN|.	K|Q	220|229	ENSP00000385586:E220K|.	ENSP00000385586:E220K|ENSP00000385132:R229Q	E|R	+|+	1|2	0|0	HOXD12|HOXD12	176673579|176673579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.567	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		21	99	0	0	0	1	0	21	99				
PTPLB	201562	broad.mit.edu	37	3	123219521	123219521	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123219521G>T	ENST00000383657.5	-	6	680	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	175					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ATTGGGTACAGCACAATGAAA	0.418																																						ENST00000383657.5																			0				kidney(2)	2						c.(523-525)Ctg>Atg		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b							84.0	82.0	83.0					3																	123219521		1893	4114	6007	SO:0001583	missense	201562				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding	g.chr3:123219521G>T	AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.523C>A	3.37:g.123219521G>T	ENSP00000373153:p.Leu175Met						p.L175M	NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN		GBM - Glioblastoma multiforme(114;0.1)	6	680	-			175						Missense_Mutation	SNP	ENST00000383657.5	37	c.523C>A	CCDS46895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291939|3.291939	0.59976|0.59976	.|.	.|.	ENSG00000206527|ENSG00000206527	ENST00000493515|ENST00000383657;ENST00000469317	.|T;T	.|0.53423	.|0.62;0.62	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68760|0.68760	0.3036|0.3036	M|M	0.85041|0.85041	2.73|2.73	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.71674	.|0.998	.|D	.|0.73380	.|0.98	T|T	0.71603|0.71603	-0.4543|-0.4543	5|10	.|0.66056	.|D	.|0.02	-7.5737|-7.5737	10.5981|10.5981	0.45349|0.45349	0.2203:0.0:0.7797:0.0|0.2203:0.0:0.7797:0.0	.|.	.|175	.|Q6Y1H2	.|HACD2_HUMAN	D|M	7|175;64	.|ENSP00000373153:L175M;ENSP00000419237:L64M	.|ENSP00000373153:L175M	A|L	-|-	2|1	0|2	PTPLB|PTPLB	124702211|124702211	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	4.086000|4.086000	0.57664|0.57664	0.847000|0.847000	0.35167|0.35167	-0.140000|-0.140000	0.14226|0.14226	GCT|CTG		0.418	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3	NM_198402		25	154	1	0	8.24728e-16	1	9.03206e-16	25	154				
MYH7	4625	broad.mit.edu	37	14	23895227	23895227	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895227C>T	ENST00000355349.3	-	19	2270	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	703	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R703H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGCAGATGCGGATGCCCTC	0.602																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.R703H(1)	ovary(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2107-2109)cGc>cAc		myosin, heavy chain 7, cardiac muscle, beta							58.0	54.0	56.0					14																	23895227		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23895227C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2108G>A	14.37:g.23895227C>T	ENSP00000347507:p.Arg703His						p.R703H	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	19	2270	-	all_cancers(95;2.54e-05)		703			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2108G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695949	0.96802	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90732	-2.72	5.03	5.03	0.67393	Myosin head, motor domain (2);	.	.	.	.	D	0.97198	0.9084	H	0.98612	4.28	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	D	0.98737	1.0715	9	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	703	P12883	MYH7_HUMAN	H	703	ENSP00000347507:R703H	ENSP00000347507:R703H	R	-	2	0	MYH7	22965067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.612000	0.88384	0.655000	0.94253	CGC		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		27	187	0	0	0	1	0	27	187				
FAM83H	286077	broad.mit.edu	37	8	144812445	144812445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812445G>A	ENST00000388913.3	-	2	433	c.308C>T	c.(307-309)gCc>gTc	p.A103V	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	103					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCAGGCACGGCCTGGTCTGA	0.627																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(307-309)gCc>gTc		family with sequence similarity 83, member H							46.0	53.0	51.0					8																	144812445		2059	4190	6249	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144812445G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.308C>T	8.37:g.144812445G>A	ENSP00000373565:p.Ala103Val						p.A103V	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	433	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		103					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.308C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	21.2	4.115005	0.77210	.	.	ENSG00000180921	ENST00000388913	T	0.11930	2.73	5.08	4.18	0.49190	.	0.059964	0.64402	D	0.000004	T	0.28499	0.0705	L	0.51422	1.61	0.37744	D	0.925714	D	0.63880	0.993	D	0.63381	0.914	T	0.09122	-1.0689	10	0.52906	T	0.07	.	14.1178	0.65167	0.0:0.0:0.8485:0.1515	.	103	Q6ZRV2	FA83H_HUMAN	V	103	ENSP00000373565:A103V	ENSP00000373565:A103V	A	-	2	0	FAM83H	144884433	1.000000	0.71417	0.943000	0.38184	0.946000	0.59487	3.843000	0.55865	1.242000	0.43836	0.561000	0.74099	GCC		0.627	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		35	313	0	0	0	1	0	35	313				
MED29	55588	broad.mit.edu	37	19	39879412	39879412	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39879412C>T	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.A234T|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.A244T|PAF1_ENST00000221266.7_Missense_Mutation_p.A211T			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTAATCATGGCCTGAGACATC	0.552																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(730-732)Gcc>Acc		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							102.0	77.0	86.0					19																	39879412		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879412C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879412C>T	Exception_encountered					PAF1_ENST00000221266.7_Missense_Mutation_p.A211T|PAF1_ENST00000595564.1_Missense_Mutation_p.A234T	p.A244T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		9	1060	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		244					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.730G>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.258444	0.80246	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.11	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	M	0.82323	2.585	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.986	T	0.82022	-0.0663	9	0.59425	D	0.04	-20.7666	13.516	0.61541	0.0:0.842:0.158:0.0	.	211;244	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	T	244;211;191	.	ENSP00000221265:A244T	A	-	1	0	PAF1	44571252	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.182000	0.77689	1.234000	0.43709	0.563000	0.77884	GCC		0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		55	271	0	0	0	1	0	55	271				
MBTPS1	8720	broad.mit.edu	37	16	84132743	84132743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132743C>T	ENST00000343411.3	-	3	831	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTAGCAGCCCCGCTTTCTGTT	0.423																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(334-336)gcG>gcA		membrane-bound transcription factor peptidase, site 1							198.0	183.0	188.0					16																	84132743		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132743C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.336G>A	16.37:g.84132743C>T							p.A112A	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			3	831	-			112					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.336G>A	CCDS10941.1																																																																																				0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		119	570	0	0	0	1	0	119	570				
OSCAR	126014	broad.mit.edu	37	19	54600355	54600355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54600355G>A	ENST00000284648.6	-	4	364	c.167C>T	c.(166-168)cCc>cTc	p.P56L	OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L|OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L|OSCAR_ENST00000391760.1_Intron			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	56	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AGCGGGTTGGGGTGCCCGGCA	0.587																																						ENST00000284648.6																			0				large_intestine(1)|skin(1)	2						c.(166-168)cCc>cTc		osteoclast associated, immunoglobulin-like receptor							73.0	76.0	75.0					19																	54600355		2203	4300	6503	SO:0001583	missense	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600355G>A	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.167C>T	19.37:g.54600355G>A	ENSP00000365808:p.Pro56Leu					OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L	p.P56L			Q8IYS5	OSCAR_HUMAN			4	364	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		56			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37	c.167C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.887743	0.52014	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56	4.05	2.99	0.34606	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.372474	0.19477	U	0.113310	T	0.29288	0.0729	M	0.73372	2.23	0.20489	N	0.999894	D;P;D;D;D;D	0.71674	0.998;0.889;0.982;0.99;0.993;0.976	D;P;P;P;P;P	0.66716	0.946;0.805;0.864;0.859;0.817;0.795	T	0.02075	-1.1218	10	0.52906	T	0.07	.	7.0457	0.25044	0.1264:0.0:0.8736:0.0	.	56;45;45;60;56;60	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	L	45;60;60;56;45;56	ENSP00000375641:P45L;ENSP00000348927:P60L;ENSP00000352671:P60L;ENSP00000351145:P56L;ENSP00000304523:P45L;ENSP00000365808:P56L	ENSP00000365808:P56L	P	-	2	0	OSCAR	59292167	0.440000	0.25618	0.560000	0.28344	0.566000	0.35808	2.588000	0.46137	2.001000	0.58596	0.585000	0.79938	CCC		0.587	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		98	541	0	0	0	1	0	98	541				
GAS6	2621	broad.mit.edu	37	13	114526473	114526473	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114526473C>T	ENST00000327773.6	-	13	1674	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6_ENST00000357389.3_Missense_Mutation_p.V553M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	553	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATGTGAGCCACGACTTCTACT	0.607																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1657-1659)Gtg>Atg		growth arrest-specific 6							102.0	87.0	92.0					13																	114526473		2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114526473C>T		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1528G>A	13.37:g.114526473C>T	ENSP00000331831:p.Val510Met					GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M|GAS6_ENST00000327773.6_Missense_Mutation_p.V510M	p.V553M			Q14393	GAS6_HUMAN			13	1809	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	553			Laminin G-like 2.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1657G>A	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750267	0.15778	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.87	-3.2	0.05156	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.58538	0.2129	L	0.33485	1.01	0.09310	N	1	P;B;B	0.35575	0.51;0.118;0.143	B;B;B	0.17722	0.019;0.012;0.006	T	0.42832	-0.9428	9	0.54805	T	0.06	-5.1945	8.0893	0.30790	0.0:0.1474:0.1382:0.7144	.	553;237;510	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	553;456;237;211;510	ENSP00000349962:V553M;ENSP00000348003:V456M;ENSP00000416498:V237M;ENSP00000400117:V211M;ENSP00000331831:V510M	ENSP00000331831:V510M	V	-	1	0	GAS6	113587470	0.050000	0.20438	0.001000	0.08648	0.008000	0.06430	0.133000	0.15912	-0.685000	0.05177	-0.140000	0.14226	GTG		0.607	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		57	370	0	0	0	1	0	57	370				
CCT8L2	150160	broad.mit.edu	37	22	17073413	17073413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17073413C>A	ENST00000359963.3	-	1	287	c.28G>T	c.(28-30)Gag>Tag	p.E10*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	10					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGGGCAGCTCCAGGGCTGAA	0.642																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(28-30)Gag>Tag		chaperonin containing TCP1, subunit 8 (theta)-like 2							30.0	35.0	33.0					22																	17073413		2203	4299	6502	SO:0001587	stop_gained	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073413C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.28G>T	22.37:g.17073413C>A	ENSP00000353048:p.Glu10*						p.E10*	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	287	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	10					A4QPH3|Q9UJS3	Nonsense_Mutation	SNP	ENST00000359963.3	37	c.28G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	35	5.512440	0.96402	.	.	ENSG00000198445	ENST00000359963	.	.	.	2.0	-0.773	0.10995	.	1.706560	0.04122	U	0.316429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.0478	7.4887	0.27449	0.0:0.4678:0.5322:0.0	.	.	.	.	X	10	.	ENSP00000353048:E10X	E	-	1	0	CCT8L2	15453413	0.000000	0.05858	0.009000	0.14445	0.625000	0.37756	0.513000	0.22770	-0.264000	0.09365	0.393000	0.25936	GAG		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			55	235	1	0	1.11015e-26	1	1.28132e-26	55	235				
CARD14	79092	broad.mit.edu	37	17	78165181	78165181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78165181C>T	ENST00000573882.1	+	10	1685	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	CARD14_ENST00000392434.2_Silent_p.D146D|CARD14_ENST00000570421.1_Silent_p.D383D|CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	383					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGAGAAGGACTCCCTCCGCA	0.652																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1147-1149)gaC>gaT		caspase recruitment domain family, member 14							74.0	67.0	69.0					17																	78165181		2203	4300	6503	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78165181C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1149C>T	17.37:g.78165181C>T						CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.D383D|CARD14_ENST00000392434.2_Silent_p.D146D	p.D383D			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		10	1685	+	all_neural(118;0.0952)		383					B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.1149C>T	CCDS11768.1																																																																																				0.652	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			93	395	0	0	0	1	0	93	395				
TRMT10B	158234	broad.mit.edu	37	9	37777645	37777645	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37777645G>T	ENST00000297994.3	+	9	957	c.892G>T	c.(892-894)Gca>Tca	p.A298S	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Missense_Mutation_p.A238S|TRMT10B_ENST00000377753.2_Missense_Mutation_p.A211S|EXOSC3_ENST00000490516.1_5'Flank|TRMT10B_ENST00000377754.2_Missense_Mutation_p.A203S	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	298	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)										CTGGCCTGAAGCATTGAAGAA	0.458																																						ENST00000297994.3																			0											c.(892-894)Gca>Tca		tRNA methyltransferase 10 homolog B (S. cerevisiae)							137.0	125.0	129.0					9																	37777645		1911	4118	6029	SO:0001583	missense	158234							g.chr9:37777645G>T	BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 3"""	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.892G>T	9.37:g.37777645G>T	ENSP00000297994:p.Ala298Ser					RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Missense_Mutation_p.A211S|TRMT10B_ENST00000537911.1_Missense_Mutation_p.A238S|TRMT10B_ENST00000377754.2_Missense_Mutation_p.A203S	p.A298S	NM_144964.2	NP_659401.2					9	957	+								B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Missense_Mutation	SNP	ENST00000297994.3	37	c.892G>T	CCDS43804.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922755	0.92319	.	.	ENSG00000165275	ENST00000377753;ENST00000537911;ENST00000377754;ENST00000297994	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.54	5.54	0.83059	.	0.048316	0.85682	D	0.000000	T	0.45498	0.1345	M	0.67569	2.06	0.80722	D	1	P;D;P;B;B	0.54397	0.568;0.966;0.537;0.024;0.154	B;P;B;B;B	0.57468	0.166;0.821;0.385;0.086;0.362	T	0.28459	-1.0043	10	0.48119	T	0.1	-15.8789	16.9836	0.86335	0.0:0.0:1.0:0.0	.	178;211;238;203;298	B7Z9F7;B7Z216;B7Z3D3;Q6PF06-2;Q6PF06	.;.;.;.;RG9D3_HUMAN	S	211;238;203;298	ENSP00000366982:A211S;ENSP00000444997:A238S;ENSP00000366983:A203S;ENSP00000297994:A298S	ENSP00000297994:A298S	A	+	1	0	RG9MTD3	37767645	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.745000	0.68672	2.621000	0.88768	0.655000	0.94253	GCA		0.458	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052482.1	NM_144964		22	330	1	0	1.10513e-12	1	1.18868e-12	22	330				
LRPPRC	10128	broad.mit.edu	37	2	44121724	44121724	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44121724A>G	ENST00000260665.7	-	36	4002	c.3945T>C	c.(3943-3945)aaT>aaC	p.N1315N	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1315	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTCCTTTTCATTTAATTCAG	0.269																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3943-3945)aaT>aaC		leucine-rich pentatricopeptide repeat containing							70.0	75.0	73.0					2																	44121724		2202	4282	6484	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44121724A>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3945T>C	2.37:g.44121724A>G							p.N1315N	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			36	4002	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1315			RNA-binding.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.3945T>C	CCDS33189.1																																																																																				0.269	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		44	294	0	0	0	1	0	44	294				
NSDHL	50814	broad.mit.edu	37	X	152037363	152037363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152037363C>A	ENST00000370274.3	+	8	1019	c.825C>A	c.(823-825)ttC>ttA	p.F275L	NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	275					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCCCTTTCTGGACATTCC	0.537																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(823-825)ttC>ttA		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						204.0	186.0	192.0					X																	152037363		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037363C>A	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.825C>A	X.37:g.152037363C>A	ENSP00000359297:p.Phe275Leu					NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	p.F275L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		275					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.825C>A	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612523	0.66672	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84516	-1.86;-1.86	4.4	2.61	0.31194	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	L	0.55103	1.725	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.85511	0.1197	10	0.44086	T	0.13	-3.6346	7.5523	0.27804	0.0:0.778:0.0:0.222	.	275	Q15738	NSDHL_HUMAN	L	275	ENSP00000359297:F275L;ENSP00000391854:F275L	ENSP00000359297:F275L	F	+	3	2	NSDHL	151788019	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.659000	0.46741	0.957000	0.37930	-0.245000	0.11935	TTC		0.537	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		339	1048	1	0	8.23087e-121	1	1.05982e-120	339	1048				
HDAC9	9734	broad.mit.edu	37	7	18630049	18630049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18630049G>A	ENST00000432645.2	+	3	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K	HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K|HDAC9_ENST00000406451.4_Missense_Mutation_p.E116K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	116					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACAGGAAGTAGAGAGGCATCG	0.483																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(346-348)Gag>Aag		histone deacetylase 9	Valproic Acid(DB00313)						70.0	74.0	73.0					7																	18630049		2063	4219	6282	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18630049G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.346G>A	7.37:g.18630049G>A	ENSP00000410337:p.Glu116Lys					HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K|HDAC9_ENST00000432645.2_Missense_Mutation_p.E116K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K	p.E116K	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			4	496	+	all_lung(11;0.187)		116					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.346G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	36	5.814642	0.96982	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62941	0.54;0.44;0.54;0.62;0.11;0.6;0.49;-0.01;0.11;0.08;0.44;0.6;0.63	5.75	5.75	0.90469	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000007	T	0.79287	0.4420	M	0.68317	2.08	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.623;0.997;0.997;0.996;0.996;0.999;0.999;0.996;0.998;0.997	D;D;D;P;D;D;D;D;D;D;D;D;D	0.85130	0.994;0.996;0.99;0.739;0.994;0.992;0.99;0.99;0.997;0.995;0.99;0.994;0.994	T	0.78912	-0.2017	10	0.56958	D	0.05	-16.8947	19.9433	0.97172	0.0:0.0:1.0:0.0	.	85;88;116;147;158;119;119;119;116;88;116;116;138	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	K	158;161;119;119;116;116;116;147;119;116;119;85;88;85;116	ENSP00000401669:E158K;ENSP00000412497:E119K;ENSP00000392564:E119K;ENSP00000384382:E116K;ENSP00000384657:E116K;ENSP00000395655:E116K;ENSP00000384017:E147K;ENSP00000383912:E119K;ENSP00000410337:E116K;ENSP00000408617:E119K;ENSP00000404763:E85K;ENSP00000388568:E88K;ENSP00000430036:E85K	ENSP00000262069:E161K	E	+	1	0	HDAC9	18596574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.066000	0.93949	2.716000	0.92895	0.655000	0.94253	GAG		0.483	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			18	48	0	0	0	1	0	18	48				
UACA	55075	broad.mit.edu	37	15	70970491	70970491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970491C>A	ENST00000322954.6	-	11	1131	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*|UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	316					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCTTTGTTCTTGCTGAATT	0.308																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(946-948)Gaa>Taa		uveal autoantigen with coiled-coil domains and ankyrin repeats							118.0	114.0	116.0					15																	70970491		2197	4292	6489	SO:0001587	stop_gained	55075					cytoskeleton|extracellular region		g.chr15:70970491C>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.946G>T	15.37:g.70970491C>A	ENSP00000314556:p.Glu316*					UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*|UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*	p.E316*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			11	1131	-			316					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	37	c.946G>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	40	8.384269	0.98786	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-31.0907	17.5243	0.87795	0.0:1.0:0.0:0.0	.	.	.	.	X	316;303;303;207	.	ENSP00000314556:E316X	E	-	1	0	UACA	68757545	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.560000	0.73950	2.658000	0.90341	0.585000	0.79938	GAA		0.308	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			15	200	1	0	1.49906e-05	1	1.53515e-05	15	200				
RALGPS2	55103	broad.mit.edu	37	1	178858792	178858792	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178858792C>A	ENST00000367635.3	+	14	1546	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	403					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGCGATGGTTCTGAACTAAGT	0.303																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1207-1209)tCt>tAt		Ral GEF with PH domain and SH3 binding motif 2							128.0	139.0	135.0					1																	178858792		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178858792C>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1208C>A	1.37:g.178858792C>A	ENSP00000356607:p.Ser403Tyr					RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S368Y|RALGPS2_ENST00000477383.1_3'UTR	p.S403Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			14	1546	+			403					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1208C>A	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.428166|4.428166	0.83667|0.83667	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.28454	.|1.73;1.79;1.61	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55924|0.55924	0.1951|0.1951	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|P;D	.|0.72982	.|0.898;0.979	T|T	0.56866|0.56866	-0.7908|-0.7908	5|10	.|0.62326	.|D	.|0.03	.|.	18.8902|18.8902	0.92397|0.92397	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|403;403	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	M|Y	20|403;403;368;52	.|ENSP00000356607:S403Y;ENSP00000356606:S403Y;ENSP00000313613:S368Y	.|ENSP00000313613:S368Y	L|S	+|+	1|2	2|0	RALGPS2|RALGPS2	177125415|177125415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.479000|7.479000	0.81095|0.81095	2.558000|2.558000	0.86282|0.86282	0.460000|0.460000	0.39030|0.39030	CTG|TCT		0.303	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		147	456	1	0	6.34984e-79	1	8.11231e-79	147	456				
PALM2	114299	broad.mit.edu	37	9	112705591	112705591	+	Silent	SNP	G	G	A	rs369583696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112705591G>A	ENST00000374531.2	+	7	1100	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	PALM2_ENST00000448454.2_Silent_p.P376P|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Silent_p.P374P	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	342					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCGGGAGGCCGGTCTCAGACA	0.547																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1126-1128)ccG>ccA		paralemmin 2		G	,,,	0,4406		0,0,2203	120.0	118.0	118.0		1026,,1122,	-11.7	0.0	9		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous,intron	PALM2,PALM2-AKAP2	NM_001037293.2,NM_007203.4,NM_053016.5,NM_147150.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	342/380,,374/412,	112705591	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114299							g.chr9:112705591G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.1026G>A	9.37:g.112705591G>A						AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000374531.2_Silent_p.P342P|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000314527.4_Silent_p.P374P	p.P376P							8	1128	+								A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.1128G>A	CCDS35099.1																																																																																				0.547	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		92	462	0	0	0	1	0	92	462				
MICALL1	85377	broad.mit.edu	37	22	38308468	38308468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308468G>T	ENST00000215957.6	+	3	432	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	102	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ATGTGTCCCAGTATTACAACC	0.602																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(304-306)caG>caT		MICAL-like 1							107.0	95.0	99.0					22																	38308468		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38308468G>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.306G>T	22.37:g.38308468G>T	ENSP00000215957:p.Gln102His						p.Q102H	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			3	432	+	Melanoma(58;0.045)		102			CH.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.306G>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513329	0.85389	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	D;D	0.95377	-2.12;-3.69	4.81	3.78	0.43462	Calponin homology domain (5);	0.563079	0.15342	N	0.267424	D	0.97701	0.9246	M	0.89414	3.03	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.97047	0.9761	10	0.37606	T	0.19	.	13.8851	0.63704	0.0744:0.0:0.9256:0.0	.	102	Q8N3F8	MILK1_HUMAN	H	18;102	ENSP00000404543:Q18H;ENSP00000215957:Q102H	ENSP00000215957:Q102H	Q	+	3	2	MICALL1	36638414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.548000	0.67255	1.395000	0.46643	0.632000	0.83419	CAG		0.602	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		52	380	1	0	2.29192e-23	1	2.60423e-23	52	380				
GNL2	29889	broad.mit.edu	37	1	38040330	38040330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38040330T>C	ENST00000373062.3	-	11	1336	c.1238A>G	c.(1237-1239)gAt>gGt	p.D413G		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	413					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTCCCAAGAATCAATCTTGTA	0.408																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1237-1239)gAt>gGt		guanine nucleotide binding protein-like 2 (nucleolar)							97.0	91.0	93.0					1																	38040330		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38040330T>C	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1238A>G	1.37:g.38040330T>C	ENSP00000362153:p.Asp413Gly						p.D413G	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			11	1336	-		Myeloproliferative disorder(586;0.0393)	413					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1238A>G	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230874	0.58777	.	.	ENSG00000134697	ENST00000373062	T	0.59502	0.26	5.87	5.87	0.94306	GTP-binding protein, orthogonal bundle domain (1);	0.285499	0.44902	D	0.000415	T	0.57799	0.2078	L	0.60455	1.87	0.42968	D	0.994427	B	0.30973	0.302	B	0.32928	0.155	T	0.58940	-0.7547	10	0.51188	T	0.08	-15.827	16.5764	0.84681	0.0:0.0:0.0:1.0	.	413	Q13823	NOG2_HUMAN	G	413	ENSP00000362153:D413G	ENSP00000362153:D413G	D	-	2	0	GNL2	37812917	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	5.340000	0.65958	2.371000	0.80710	0.533000	0.62120	GAT		0.408	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		8	252	0	0	0	1	0	8	252				
GPR148	344561	broad.mit.edu	37	2	131486811	131486811	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486811C>A	ENST00000309926.4	+	1	169	c.87C>A	c.(85-87)ccC>ccA	p.P29P		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	29				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTGCATGCCCCAAGCAGCCA	0.632																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(85-87)ccC>ccA		G protein-coupled receptor 148							89.0	85.0	86.0					2																	131486811		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486811C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.87C>A	2.37:g.131486811C>A							p.P29P	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	169	+	Colorectal(110;0.1)		29	CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).				Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.87C>A	CCDS2163.1																																																																																				0.632	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		62	513	1	0	1.22119e-34	1	1.45331e-34	62	513				
LYPD4	147719	broad.mit.edu	37	19	42342983	42342983	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342983G>A	ENST00000330743.3	-	3	1394	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LYPD4_ENST00000601246.1_Intron|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	61						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCGTCTCCTCGCAGCCCTCTT	0.493																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(181-183)tgC>tgT		LY6/PLAUR domain containing 4							162.0	149.0	154.0					19																	42342983		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42342983G>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.183C>T	19.37:g.42342983G>A						LYPD4_ENST00000343055.4_Intron|LYPD4_ENST00000601246.1_Intron	p.C61C	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			3	1394	-			61					Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.183C>T	CCDS12587.1																																																																																				0.493	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		131	497	0	0	0	1	0	131	497				
KCNK3	3777	broad.mit.edu	37	2	26950898	26950898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950898C>T	ENST00000302909.3	+	2	772	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	216					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCCCTGCAGACGCAGCCGCAG	0.607																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(646-648)aCg>aTg		potassium channel, subfamily K, member 3							80.0	63.0	69.0					2																	26950898		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950898C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.647C>T	2.37:g.26950898C>T	ENSP00000306275:p.Thr216Met						p.T216M	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	772	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		216					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.647C>T	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	c	17.25	3.341845	0.61073	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.25250	1.81	4.72	4.72	0.59763	Ion transport 2 (1);	0.255913	0.36893	N	0.002358	T	0.36441	0.0967	L	0.38175	1.15	0.46044	D	0.99883	P	0.50272	0.933	P	0.56788	0.806	T	0.11991	-1.0565	10	0.62326	D	0.03	.	15.5289	0.75936	0.0:1.0:0.0:0.0	.	216	O14649	KCNK3_HUMAN	M	93;216	ENSP00000306275:T216M	ENSP00000306275:T216M	T	+	2	0	KCNK3	26804402	0.971000	0.33674	1.000000	0.80357	0.994000	0.84299	1.475000	0.35409	2.303000	0.77524	0.556000	0.70494	ACG		0.607	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		42	218	0	0	0	1	0	42	218				
MUC16	94025	broad.mit.edu	37	19	9002161	9002161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9002161G>A	ENST00000397910.4	-	52	40546	c.40343C>T	c.(40342-40344)aCc>aTc	p.T13448I	MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13450					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCTGGTGGTCGTCATAGA	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40342-40344)aCc>aTc		mucin 16, cell surface associated							96.0	85.0	89.0					19																	9002161		1971	4145	6116	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9002161G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40343C>T	19.37:g.9002161G>A	ENSP00000381008:p.Thr13448Ile					MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	p.T13448I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			52	40546	-			13450					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40343C>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.235|3.235	-0.156656|-0.156656	0.06544|0.06544	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.33654	.|1.4;1.4	1.38|1.38	-2.76|-2.76	0.05896|0.05896	.|.	.|.	.|.	.|.	.|.	T|T	0.42585|0.42585	0.1209|0.1209	L|L	0.48642|0.48642	1.525|1.525	.|.	.|.	.|.	.|B;D	.|0.61697	.|0.001;0.99	.|B;D	.|0.74348	.|0.0;0.983	T|T	0.44787|0.44787	-0.9305|-0.9305	4|8	.|0.40728	.|T	.|0.16	.|.	3.7638|3.7638	0.08615|0.08615	0.3283:0.3967:0.275:0.0|0.3283:0.3967:0.275:0.0	.|.	.|21093;13448	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	288|13448;89	.|ENSP00000381008:T13448I;ENSP00000370338:T89I	.|ENSP00000370338:T89I	P|T	-|-	1|2	0|0	MUC16|MUC16	8863161|8863161	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.122000|0.122000	0.20287|0.20287	-2.921000|-2.921000	0.00693|0.00693	-1.763000|-1.763000	0.01307|0.01307	0.274000|0.274000	0.19336|0.19336	CCA|ACC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	96	0	0	0	1	0	12	96				
UFM1	51569	broad.mit.edu	37	13	38924356	38924356	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924356C>T	ENST00000239878.4	+	2	98				UFM1_ENST00000379649.1_Silent_p.C35C|UFM1_ENST00000379641.1_Silent_p.C35C	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1						protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CCGGAGCCTGCGAGGAGAGGT	0.567																																						ENST00000379641.1																			0				lung(2)|ovary(1)	3						c.(103-105)tgC>tgT		ubiquitin-fold modifier 1							20.0	19.0	19.0					13																	38924356		876	1991	2867	SO:0001627	intron_variant	51569				protein ufmylation	cytoplasm|nucleus	protein binding	g.chr13:38924356C>T	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"""chromosome 13 open reading frame 20"""	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.59+164C>T	13.37:g.38924356C>T						UFM1_ENST00000239878.4_Intron|UFM1_ENST00000379649.1_Silent_p.C35C	p.C35C			P61960	UFM1_HUMAN		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)	1	105	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)	0					Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Silent	SNP	ENST00000239878.4	37	c.105C>T	CCDS9366.1																																																																																				0.567	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	NM_016617		9	73	0	0	0	1	0	9	73				
RAB28	9364	broad.mit.edu	37	4	13371502	13371502	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13371502A>G	ENST00000330852.5	-	7	788				RAB28_ENST00000338176.4_Intron|RAB28_ENST00000288723.4_Nonstop_Mutation_p.*221Q	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TACCTGCACTACTGTACTGAA	0.398																																						ENST00000288723.4																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(661-663)Tag>Cag		RAB28, member RAS oncogene family							153.0	135.0	141.0					4																	13371502		2203	4300	6503	SO:0001627	intron_variant	0				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13371502A>G	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.574-1228T>C	4.37:g.13371502A>G						RAB28_ENST00000338176.4_Intron|RAB28_ENST00000330852.5_Intron	p.*221Q	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN			7	875	-			0					G8JLC5|Q8IYR8|Q8NI05	Nonstop_Mutation	SNP	ENST00000330852.5	37	c.661T>C	CCDS33961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.835416|2.835416	0.50951|0.50951	.|.	.|.	ENSG00000157869|ENSG00000157869	ENST00000511649|ENST00000288723	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|.	.|.	.|.	.|.	T|.	0.71863|.	0.3390|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71002|.	-0.4718|.	4|.	.|.	.|.	.|.	.|.	15.6647|15.6647	0.77221|0.77221	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	A|Q	143|221	.|.	.|.	V|X	-|-	2|1	0|0	RAB28|RAB28	12980600|12980600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	7.162000|7.162000	0.77515|0.77515	2.185000|2.185000	0.69588|0.69588	0.482000|0.482000	0.46254|0.46254	GTA|TAG		0.398	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		75	297	0	0	0	1	0	75	297				
PPARD	5467	broad.mit.edu	37	6	35393666	35393666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35393666G>A	ENST00000311565.4	+	9	1485	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PPARD_ENST00000540939.1_Missense_Mutation_p.R276H|PPARD_ENST00000448077.2_Missense_Mutation_p.R340H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000418635.2_Missense_Mutation_p.R281H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	379	Ligand-binding.				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)	p.R379H(1)		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)	ACCATCCTGCGTGCCCTCGAA	0.627																																						ENST00000311565.4																			1	Substitution - Missense(1)	p.R379H(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1135-1137)cGt>cAt		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						112.0	98.0	103.0					6																	35393666		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.chr6:35393666G>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.1136G>A	6.37:g.35393666G>A	ENSP00000310928:p.Arg379His					PPARD_ENST00000448077.2_Missense_Mutation_p.R340H|PPARD_ENST00000418635.2_Missense_Mutation_p.R281H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000540939.1_Missense_Mutation_p.R276H	p.R379H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			9	1485	+			379			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.1136G>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922548	0.33908	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.05	2.1	0.27182	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.453737	0.25708	N	0.028835	T	0.81997	0.4941	N	0.04335	-0.225	0.38358	D	0.944533	D;P;P	0.53151	0.958;0.882;0.95	P;B;B	0.44359	0.447;0.443;0.443	T	0.80141	-0.1506	10	0.17832	T	0.49	.	8.4014	0.32588	0.349:0.0:0.651:0.0	.	281;340;379	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	H	340;379;281;379;276	ENSP00000414372:R340H;ENSP00000353916:R379H;ENSP00000413314:R281H;ENSP00000310928:R379H;ENSP00000443759:R276H	ENSP00000310928:R379H	R	+	2	0	PPARD	35501644	0.997000	0.39634	0.995000	0.50966	0.982000	0.71751	1.886000	0.39688	0.434000	0.26340	0.561000	0.74099	CGT		0.627	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		71	262	0	0	0	1	0	71	262				
MUC16	94025	broad.mit.edu	37	19	9072986	9072986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9072986A>G	ENST00000397910.4	-	3	14663	c.14460T>C	c.(14458-14460)gaT>gaC	p.D4820D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4822	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTCTATATCTGTGGTGG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14458-14460)gaT>gaC		mucin 16, cell surface associated							152.0	142.0	145.0					19																	9072986		2075	4219	6294	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072986A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14460T>C	19.37:g.9072986A>G							p.D4820D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14663	-			4822			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.14460T>C	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		47	237	0	0	0	1	0	47	237				
FAM181B	220382	broad.mit.edu	37	11	82444633	82444633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444633C>T	ENST00000329203.3	-	1	273	c.139G>A	c.(139-141)Gcg>Acg	p.A47T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	47										large_intestine(1)|lung(2)|prostate(1)	4						AGCGCACCCGCCGGAGCCCCG	0.692																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(139-141)Gcg>Acg		family with sequence similarity 181, member B							13.0	15.0	14.0					11																	82444633		2178	4270	6448	SO:0001583	missense	220382							g.chr11:82444633C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.139G>A	11.37:g.82444633C>T	ENSP00000365295:p.Ala47Thr						p.A47T	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	273	-			47					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.139G>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803751	0.50315	.	.	ENSG00000182103	ENST00000329203	T	0.32272	1.46	3.51	3.51	0.40186	.	0.860133	0.09314	U	0.819132	T	0.24005	0.0581	N	0.22421	0.69	0.28960	N	0.889904	P	0.42518	0.782	B	0.40256	0.324	T	0.07597	-1.0764	9	.	.	.	.	13.3973	0.60861	0.0:1.0:0.0:0.0	.	47	A6NEQ2	F181B_HUMAN	T	47	ENSP00000365295:A47T	.	A	-	1	0	FAM181B	82122281	0.876000	0.30132	0.984000	0.44739	0.022000	0.10575	1.156000	0.31712	1.800000	0.52685	0.455000	0.32223	GCG		0.692	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		19	84	0	0	0	1	0	19	84				
ZFHX3	463	broad.mit.edu	37	16	72830247	72830247	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72830247C>A	ENST00000268489.5	-	9	7006	c.6334G>T	c.(6334-6336)Gct>Tct	p.A2112S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2112					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTAGCTGAGCCGGCAAGGTC	0.642																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6334-6336)Gct>Tct		zinc finger homeobox 3							48.0	45.0	46.0					16																	72830247		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830247C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6334G>T	16.37:g.72830247C>A	ENSP00000268489:p.Ala2112Ser					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	p.A2112S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7006	-		Ovarian(137;0.13)	2112					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6334G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	6.497	0.459948	0.12342	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73469	-0.75;-0.74	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000135	T	0.59783	0.2219	N	0.12182	0.205	0.43756	D	0.996261	B	0.14438	0.01	B	0.13407	0.009	T	0.54214	-0.8327	10	0.20046	T	0.44	.	19.1839	0.93635	0.0:1.0:0.0:0.0	.	2112	Q15911	ZFHX3_HUMAN	S	2112;1198	ENSP00000268489:A2112S;ENSP00000438926:A1198S	ENSP00000268489:A2112S	A	-	1	0	ZFHX3	71387748	0.993000	0.37304	0.314000	0.25224	0.145000	0.21501	3.019000	0.49635	2.523000	0.85059	0.655000	0.94253	GCT		0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		81	323	1	0	4.8811e-34	1	5.79764e-34	81	323				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390538	52390538	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52390538C>T	ENST00000443374.2	+	0	1727				RP11-50E11.3_ENST00000609579.1_RNA																							TGCTGAAACACTCCTGATCGT	0.448																																						ENST00000443374.1																			0																																																			0							g.chr10:52390538C>T																													10.37:g.52390538C>T														0	1231	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.448	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			23	177	0	0	0	1	0	23	177				
CRYZL1	9946	broad.mit.edu	37	21	34997011	34997011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34997011G>A	ENST00000381554.3	-	3	207	c.122C>T	c.(121-123)gCt>gTt	p.A41V	CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V|CRYZL1_ENST00000361534.2_Missense_Mutation_p.A65V|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	41					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						CTGGCTCAGAGCACAAGCTTT	0.308																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(193-195)gCt>gTt		crystallin, zeta (quinone reductase)-like 1							102.0	102.0	102.0					21																	34997011		2202	4300	6502	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34997011G>A	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.122C>T	21.37:g.34997011G>A	ENSP00000370966:p.Ala41Val					AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V|CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|CRYZL1_ENST00000381554.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V	p.A65V			O95825	QORL1_HUMAN			4	333	-			41					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.194C>T	CCDS13633.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982314	0.74474	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000431177;ENST00000413017	T;T;T;T;T;T;T	0.50548	3.45;0.74;3.45;0.74;3.45;3.45;3.45	5.05	5.05	0.67936	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.176366	0.48286	D	0.000196	T	0.72153	0.3425	M	0.90082	3.085	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.66084	0.941;0.941;0.941	T	0.78478	-0.2188	10	0.72032	D	0.01	-21.5229	14.2943	0.66302	0.0:0.0:1.0:0.0	.	41;41;65	O95825;A6NND8;A6NHJ8	QORL1_HUMAN;.;.	V	41;41;41;41;65;41;41;41	ENSP00000370966:A41V;ENSP00000290244:A41V;ENSP00000370951:A41V;ENSP00000399730:A41V;ENSP00000355075:A65V;ENSP00000405510:A41V;ENSP00000389209:A41V	ENSP00000290244:A41V	A	-	2	0	CRYZL1	33918881	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.861000	0.56002	2.503000	0.84419	0.591000	0.81541	GCT		0.308	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		47	242	0	0	0	1	0	47	242				
SORCS3	22986	broad.mit.edu	37	10	106974214	106974214	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106974214T>C	ENST00000369701.3	+	18	2617	c.2390T>C	c.(2389-2391)gTg>gCg	p.V797A	SORCS3_ENST00000369699.4_Missense_Mutation_p.V83A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	797					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CGGCGGATTGTGTCCAACAAC	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2389-2391)gTg>gCg		sortilin-related VPS10 domain containing receptor 3							123.0	103.0	109.0					10																	106974214		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974214T>C	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2390T>C	10.37:g.106974214T>C	ENSP00000358715:p.Val797Ala					SORCS3_ENST00000369699.4_Missense_Mutation_p.V83A	p.V797A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2617	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	797					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2390T>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	t	27.2	4.810777	0.90707	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.68624	-0.34;-0.34	5.89	5.89	0.94794	VPS10 (1);PKD domain (1);	0.226239	0.38492	N	0.001679	T	0.71417	0.3337	L	0.40543	1.245	0.58432	D	0.999999	D	0.56035	0.974	P	0.57101	0.813	T	0.69778	-0.5053	9	.	.	.	.	16.3122	0.82883	0.0:0.0:0.0:1.0	.	797	Q9UPU3	SORC3_HUMAN	A	797;83	ENSP00000358715:V797A;ENSP00000358713:V83A	.	V	+	2	0	SORCS3	106964204	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	4.741000	0.62095	2.251000	0.74343	0.456000	0.33151	GTG		0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		11	427	0	0	0	1	0	11	427				
DNM2	1785	broad.mit.edu	37	19	10940946	10940946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10940946G>A	ENST00000355667.6	+	20	2515	c.2435G>A	c.(2434-2436)cGg>cAg	p.R812Q	DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q|DNM2_ENST00000314646.5_Missense_Mutation_p.R812Q|DNM2_ENST00000359692.6_Missense_Mutation_p.R808Q	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	812	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATCCCATCCCGGCCTGGACCC	0.697			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2434-2436)cGg>cAg		dynamin 2							69.0	72.0	71.0					19																	10940946		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10940946G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2435G>A	19.37:g.10940946G>A	ENSP00000347890:p.Arg812Gln					DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q|DNM2_ENST00000355667.6_Missense_Mutation_p.R812Q|DNM2_ENST00000359692.6_Missense_Mutation_p.R808Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q	p.R812Q			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		20	2599	+			812			Pro-rich.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.2435G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.008865	0.75046	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T	0.61040	0.14;0.14;0.14	5.12	5.12	0.69794	.	0.068830	0.64402	D	0.000020	T	0.76183	0.3952	M	0.75615	2.305	0.47994	D	0.99956	D;P;D;D;D;D;D	0.76494	0.998;0.864;0.995;0.994;0.999;0.998;0.994	D;B;P;P;D;D;P	0.77557	0.99;0.114;0.647;0.885;0.975;0.945;0.885	T	0.79067	-0.1955	10	0.66056	D	0.02	-16.2448	17.3501	0.87321	0.0:0.0:1.0:0.0	.	406;812;541;808;808;812;812	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	Q	808;808;812;812;812	ENSP00000386192:R808Q;ENSP00000373905:R812Q;ENSP00000313164:R812Q	ENSP00000313164:R812Q	R	+	2	0	DNM2	10801946	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	8.584000	0.90798	2.403000	0.81681	0.550000	0.68814	CGG		0.697	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		202	862	0	0	0	1	0	202	862				
PPP1R13L	10848	broad.mit.edu	37	19	45885941	45885941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	764	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCAGAGAGCGTACACTGCCC	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2290-2292)taC>taT		protein phosphatase 1, regulatory subunit 13 like							62.0	51.0	55.0					19																	45885941		2203	4300	6503	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885941G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2292C>T	19.37:g.45885941G>A						PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2370	-		all_neural(266;0.224)|Ovarian(192;0.231)	764			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2292C>T	CCDS33050.1																																																																																				0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		58	235	0	0	0	1	0	58	235				
PSMC4	5704	broad.mit.edu	37	19	40486024	40486024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486024G>A	ENST00000157812.2	+	8	1087	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAATCAGATGGATGGATTTGA	0.552																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(889-891)Gat>Aat		proteasome (prosome, macropain) 26S subunit, ATPase, 4							163.0	158.0	159.0					19																	40486024		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40486024G>A	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.889G>A	19.37:g.40486024G>A	ENSP00000157812:p.Asp297Asn					PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	p.D297N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			8	1087	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		297					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.889G>A	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.319831	0.81469	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95918	-3.85;-3.85	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98674	1.0689	10	0.87932	D	0	-21.9217	18.1147	0.89549	0.0:0.0:1.0:0.0	.	266;297	P43686-2;P43686	.;PRS6B_HUMAN	N	297;266	ENSP00000157812:D297N;ENSP00000413869:D266N	ENSP00000157812:D297N	D	+	1	0	PSMC4	45177864	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.736000	0.84948	2.882000	0.98803	0.655000	0.94253	GAT		0.552	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		12	316	0	0	0	1	0	12	316				
ZNF665	79788	broad.mit.edu	37	19	53678811	53678811	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53678811A>G	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.F10S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CACATCCTTGAATGTCAACTG	0.413																																						ENST00000396424.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(28-30)tTc>tCc		zinc finger protein 665							112.0	113.0	113.0					19																	53678811		2203	4300	6503	SO:0001627	intron_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53678811A>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9211T>C	19.37:g.53678811A>G						ZNF665_ENST00000600412.1_Intron	p.F10S	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	118	-			0					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.29T>C		.	.	.	.	.	.	.	.	.	.	A	11.00	1.508950	0.27036	.	.	ENSG00000197497	ENST00000396424	T	0.08984	3.03	2.67	2.67	0.31697	.	.	.	.	.	T	0.07773	0.0195	.	.	.	0.09310	N	1	P	0.45827	0.867	B	0.39027	0.288	T	0.24977	-1.0145	8	0.72032	D	0.01	.	8.8024	0.34916	1.0:0.0:0.0:0.0	.	10	Q9H7R5-2	.	S	10	ENSP00000379702:F10S	ENSP00000379702:F10S	F	-	2	0	ZNF665	58370623	0.961000	0.32948	0.081000	0.20488	0.394000	0.30568	3.356000	0.52269	1.214000	0.43395	0.533000	0.62120	TTC		0.413	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		62	542	0	0	0	1	0	62	542				
SCAP	22937	broad.mit.edu	37	3	47460857	47460857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460857G>A	ENST00000265565.5	-	13	2313	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P379L|SCAP_ENST00000545718.1_Missense_Mutation_p.P242L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	634					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAAGAGCGTCGGCCAGTGGCG	0.582																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1900-1902)cCg>cTg		SREBF chaperone							57.0	55.0	55.0					3																	47460857		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460857G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1901C>T	3.37:g.47460857G>A	ENSP00000265565:p.Pro634Leu					SCAP_ENST00000545718.1_Missense_Mutation_p.P242L|SCAP_ENST00000441517.2_Missense_Mutation_p.P379L	p.P634L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	13	2313	-			634					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.1901C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	33	5.284507	0.95517	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.84800	-1.9;-1.86;0.25	4.48	4.48	0.54585	.	0.057304	0.64402	D	0.000001	D	0.91372	0.7278	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	D	0.92528	0.6031	10	0.87932	D	0	-23.6223	16.9316	0.86191	0.0:0.0:1.0:0.0	.	379;634	F8W921;Q12770	.;SCAP_HUMAN	L	261;634;379;242	ENSP00000265565:P634L;ENSP00000416847:P379L;ENSP00000438956:P242L	ENSP00000265565:P634L	P	-	2	0	SCAP	47435861	1.000000	0.71417	0.934000	0.37439	0.986000	0.74619	9.336000	0.96533	2.316000	0.78162	0.462000	0.41574	CCG		0.582	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		12	325	0	0	0	1	0	12	325				
CENPJ	55835	broad.mit.edu	37	13	25463468	25463468	+	Missense_Mutation	SNP	T	T	A	rs556953003		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25463468T>A	ENST00000381884.4	-	11	3472	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	CENPJ_ENST00000545981.1_Intron	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1096					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CATTGGAAGATAATTTTTCTT	0.274																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3286-3288)tAt>tTt		centromere protein J							93.0	106.0	101.0					13																	25463468		2202	4296	6498	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25463468T>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3287A>T	13.37:g.25463468T>A	ENSP00000371308:p.Tyr1096Phe					CENPJ_ENST00000545981.1_Intron	p.Y1096F	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	11	3472	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1096					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3287A>T	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.995|8.995	0.978707|0.978707	0.18812|0.18812	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000418179|ENST00000381884;ENST00000445729	.|T	.|0.34275	.|1.37	4.82|4.82	1.03|1.03	0.20045|0.20045	.|.	.|0.589219	.|0.16585	.|N	.|0.208016	T|T	0.25901|0.25901	0.0631|0.0631	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.31931	.|0.302;0.347	.|B;B	.|0.32864	.|0.154;0.047	T|T	0.20974|0.20974	-1.0259|-1.0259	5|10	.|0.10111	.|T	.|0.7	.|.	3.9018|3.9018	0.09164|0.09164	0.0:0.1924:0.1845:0.623|0.0:0.1924:0.1845:0.623	.|.	.|177;1096	.|Q5T6R6;Q9HC77	.|.;CENPJ_HUMAN	F|F	177|1096	.|ENSP00000371308:Y1096F	.|ENSP00000371308:Y1096F	L|Y	-|-	3|2	2|0	CENPJ|CENPJ	24361468|24361468	0.359000|0.359000	0.24955|0.24955	0.082000|0.082000	0.20525|0.20525	0.293000|0.293000	0.27360|0.27360	0.300000|0.300000	0.19156|0.19156	0.097000|0.097000	0.17492|0.17492	0.450000|0.450000	0.29827|0.29827	TTA|TAT		0.274	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		80	463	0	0	0	1	0	80	463				
GHR	2690	broad.mit.edu	37	5	42699999	42699999	+	Silent	SNP	C	C	T	rs561281010|rs45477803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42699999C>T	ENST00000230882.4	+	6	703	c.513C>T	c.(511-513)atC>atT	p.I171I	GHR_ENST00000357703.3_Silent_p.I149I|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> T (in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions). {ECO:0000269|PubMed:9851797}.		2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGCAGATATCCAAGTGAGAT	0.418																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(511-513)atC>atT		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						137.0	118.0	124.0					5																	42699999		2203	4300	6503	SO:0001819	synonymous_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42699999C>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.513C>T	5.37:g.42699999C>T						GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Silent_p.I149I	p.I171I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			6	703	+		Myeloproliferative disorder(839;0.00878)	171		I -> T (in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions).	Fibronectin type-III.		Q9HCX2	Silent	SNP	ENST00000230882.4	37	c.513C>T	CCDS3940.1																																																																																				0.418	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		52	259	0	0	0	1	0	52	259				
XPO7	23039	broad.mit.edu	37	8	21840243	21840243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21840243C>T	ENST00000252512.9	+	11	1297	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	XPO7_ENST00000433566.4_Silent_p.P400P|XPO7_ENST00000434536.1_Silent_p.P408P	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	399				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCACAGAGCCCCACATGCTGG	0.502																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1222-1224)ccC>ccT		exportin 7							136.0	136.0	136.0					8																	21840243		2029	4195	6224	SO:0001819	synonymous_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21840243C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1197C>T	8.37:g.21840243C>T						XPO7_ENST00000252512.9_Silent_p.P399P|XPO7_ENST00000433566.4_Silent_p.P400P	p.P408P			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	11	1326	+			399	Missing (in Ref. 3; BAA34465).				O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	c.1224C>T	CCDS47818.1																																																																																				0.502	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		77	361	0	0	0	1	0	77	361				
CCDC151	115948	broad.mit.edu	37	19	11534691	11534691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534691C>T	ENST00000356392.4	-	8	1058	c.971G>A	c.(970-972)cGc>cAc	p.R324H	CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H|CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H|CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	324										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGGTGCTCGCGGTGGGTCTG	0.662																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(970-972)cGc>cAc		coiled-coil domain containing 151							103.0	114.0	110.0					19																	11534691		2144	4253	6397	SO:0001583	missense	115948							g.chr19:11534691C>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.971G>A	19.37:g.11534691C>T	ENSP00000348757:p.Arg324His					CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H|CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H|CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H	p.R324H	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			8	1058	-			324					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.971G>A	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.657951	0.67586	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83755	-1.76;-1.76	3.63	3.63	0.41609	.	0.605905	0.15707	N	0.248624	D	0.88548	0.6466	M	0.70595	2.14	0.36641	D	0.876856	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65773	0.938;0.938;0.938	D	0.89946	0.4076	10	0.54805	T	0.06	-9.2471	10.9377	0.47255	0.0:1.0:0.0:0.0	.	324;324;304	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	H	270;324;303	ENSP00000442987:R270H;ENSP00000348757:R324H	ENSP00000348757:R324H	R	-	2	0	CCDC151	11395691	0.981000	0.34729	0.608000	0.28969	0.013000	0.08279	1.889000	0.39718	2.014000	0.59158	0.491000	0.48974	CGC		0.662	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		186	849	0	0	0	1	0	186	849				
GTF2E1	2960	broad.mit.edu	37	3	120499984	120499984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120499984G>T	ENST00000283875.5	+	5	1080	c.987G>T	c.(985-987)gaG>gaT	p.E329D		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	329					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TCATTCACGAGAAAAAGACTT	0.567																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(985-987)gaG>gaT		general transcription factor IIE, polypeptide 1, alpha 56kDa							74.0	76.0	76.0					3																	120499984		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120499984G>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.987G>T	3.37:g.120499984G>T	ENSP00000283875:p.Glu329Asp						p.E329D	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	5	1080	+			329					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.987G>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779073	0.70107	.	.	ENSG00000153767	ENST00000283875	T	0.55413	0.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74671	-0.3587	10	0.56958	D	0.05	0.0028	11.6981	0.51554	0.0797:0.0:0.9203:0.0	.	329	P29083	T2EA_HUMAN	D	329	ENSP00000283875:E329D	ENSP00000283875:E329D	E	+	3	2	GTF2E1	121982674	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.137000	0.71710	2.814000	0.96858	0.650000	0.86243	GAG		0.567	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		53	254	1	0	1.07234e-20	1	1.20343e-20	53	254				
YTHDC1	91746	broad.mit.edu	37	4	69197819	69197819	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69197819A>G	ENST00000344157.4	-	7	1458		c.e7+1		YTHDC1_ENST00000579690.1_Splice_Site|YTHDC1_ENST00000355665.3_Splice_Site	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1						mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGATGCTAATACCTTCGCTTT	0.313																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.e7+1		YTH domain containing 1							105.0	98.0	100.0					4																	69197819		2203	4300	6503	SO:0001630	splice_region_variant	91746							g.chr4:69197819A>G	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1122+1T>C	4.37:g.69197819A>G						YTHDC1_ENST00000355665.3_Splice_Site|YTHDC1_ENST00000579690.1_Splice_Site		NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			7	1458	-								Q4W5Q3|Q7Z622|Q8TF35	Splice_Site	SNP	ENST00000344157.4	37		CCDS33992.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167816	0.57476	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3141	0.74059	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YTHDC1	68880414	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.588000	0.74076	2.155000	0.67459	0.528000	0.53228	.		0.313	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	Intron	46	178	0	0	0	1	0	46	178				
LPAR4	2846	broad.mit.edu	37	X	78010530	78010530	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010530T>C	ENST00000435339.3	+	2	550	c.164T>C	c.(163-165)aTa>aCa	p.I55T		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	55					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGGGTCTGATAACCAACAGT	0.383																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(163-165)aTa>aCa		lysophosphatidic acid receptor 4							368.0	294.0	319.0					X																	78010530		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010530T>C	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.164T>C	X.37:g.78010530T>C	ENSP00000408205:p.Ile55Thr					LPAR4_ENST00000373301.2_Missense_Mutation_p.I55T	p.I55T	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	569	+			55					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.164T>C	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315324	0.23908	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.38722	1.12;1.12	4.32	4.32	0.51571	.	0.128566	0.51477	D	0.000089	T	0.29783	0.0744	L	0.34521	1.04	0.44006	D	0.996714	P	0.38048	0.616	B	0.33454	0.164	T	0.11470	-1.0586	10	0.45353	T	0.12	.	11.575	0.50856	0.0:0.0:0.0:1.0	.	55	Q99677	LPAR4_HUMAN	T	55	ENSP00000408205:I55T;ENSP00000362398:I55T	ENSP00000362398:I55T	I	+	2	0	LPAR4	77897186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.592000	0.61027	1.609000	0.50190	0.345000	0.21793	ATA		0.383	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		27	1077	0	0	0	1	0	27	1077				
RP11-24M17.5	0	broad.mit.edu	37	15	76073005	76073005	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76073005A>C	ENST00000395215.3	+	0	394																											GAAATACACAAAGCACAGATG	0.478																																						ENST00000395215.3																			0																																																			0							g.chr15:76073005A>C																													15.37:g.76073005A>C														0	394	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.794	-0.043140	0.07452	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.35970	0.0950	.	.	.	.	.	.	P	0.39940	0.696	B	0.43838	0.433	T	0.43893	-0.9363	6	0.62326	D	0.03	.	3.7916	0.08722	1.0:0.0:0.0:0.0	.	118	B4DZE6	.	T	118	.	ENSP00000378641:K118T	K	+	2	0	AC019294.2	73860060	0.008000	0.16893	0.103000	0.21229	0.080000	0.17528	0.013000	0.13310	0.588000	0.29660	0.136000	0.15936	AAA		0.478	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			48	272	0	0	0	1	0	48	272				
FIGN	55137	broad.mit.edu	37	2	164466940	164466940	+	Missense_Mutation	SNP	G	G	A	rs372466697		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164466940G>A	ENST00000333129.3	-	3	1716	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	468					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGGTCGATGAGGTGCGTGTCA	0.532																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1402-1404)Ctc>Ttc		fidgetin							138.0	133.0	135.0					2																	164466940		2115	4227	6342	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466940G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1402C>T	2.37:g.164466940G>A	ENSP00000333836:p.Leu468Phe					FIGN_ENST00000409634.1_Intron	p.L468F	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1716	-			468					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1402C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832114	0.32421	.	.	ENSG00000182263	ENST00000333129	D	0.93859	-3.3	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.70787	2.145	0.80722	D	1	B	0.25667	0.131	B	0.36808	0.233	D	0.92063	0.5658	10	0.72032	D	0.01	-5.8839	20.2723	0.98479	0.0:0.0:1.0:0.0	.	468	Q5HY92	FIGN_HUMAN	F	468	ENSP00000333836:L468F	ENSP00000333836:L468F	L	-	1	0	FIGN	164175186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.789000	0.69029	2.793000	0.96121	0.563000	0.77884	CTC		0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		62	303	0	0	0	1	0	62	303				
SERPINB11	89778	broad.mit.edu	37	18	61377552	61377552	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61377552T>C	ENST00000382749.5	+	0	370				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTAAGCATGGTCCTCCTTGGT	0.448																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)							118.0	109.0	112.0					18																	61377552		1900	4130	6030			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61377552T>C			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61377552T>C						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	187	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37			.	.	.	.	.	.	.	.	.	.	T	16.69	3.193059	0.58017	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.83335	-1.71;-1.71	5.14	5.14	0.70334	Serpin domain (3);	1.020130	0.07854	N	0.965175	T	0.82121	0.4968	L	0.39085	1.19	0.80722	D	1	D;P	0.57257	0.979;0.517	P;B	0.47402	0.546;0.253	T	0.77078	-0.2721	10	0.72032	D	0.01	.	13.1919	0.59715	0.0:0.0:0.0:1.0	.	42;42	F5GY69;Q96P15	.;SPB11_HUMAN	A	42	ENSP00000441497:V42A;ENSP00000440795:V42A	ENSP00000421854:V42A	V	+	2	0	SERPINB11	59528532	0.920000	0.31207	0.977000	0.42913	0.928000	0.56348	5.259000	0.65485	2.051000	0.60960	0.533000	0.62120	GTC		0.448	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		47	207	0	0	0	1	0	47	207				
HSP90B1	7184	broad.mit.edu	37	12	104340598	104340598	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104340598C>A	ENST00000299767.5	+	16	2323	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	714					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTGGATCTTGCTGTGGTTTTG	0.353																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(2140-2142)gCt>gAt		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						74.0	72.0	72.0					12																	104340598		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104340598C>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2141C>A	12.37:g.104340598C>A	ENSP00000299767:p.Ala714Asp						p.A714D	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			16	2323	+			714					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.2141C>A	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.508297|5.508297	0.96386|0.96386	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.50813|.	0.73|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.100176|.	0.64402|.	D|.	0.000002|.	D|D	0.91580|0.91580	0.7340|0.7340	H|H	0.98996|0.98996	4.395|4.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94221|0.94221	0.7467|0.7467	10|5	0.87932|.	D|.	0|.	.|.	20.3736|20.3736	0.98901|0.98901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	714|.	P14625|.	ENPL_HUMAN|.	D|M	714;464|65	ENSP00000299767:A714D|.	ENSP00000299767:A714D|.	A|L	+|+	2|1	0|2	HSP90B1|HSP90B1	102864728|102864728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GCT|CTG		0.353	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		68	258	1	0	3.57465e-26	1	4.11543e-26	68	258				
SH2D3A	10045	broad.mit.edu	37	19	6754363	6754363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754363C>T	ENST00000245908.6	-	7	1440	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	391					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCCCTCAGTGCGGCTGCGCGC	0.751																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(1171-1173)Gca>Aca		SH2 domain containing 3A							4.0	6.0	5.0					19																	6754363		1867	3774	5641	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754363C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1171G>A	19.37:g.6754363C>T	ENSP00000245908:p.Ala391Thr					SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T	p.A391T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			7	1440	-			391					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.1171G>A	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	1.228	-0.624921	0.03636	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28666	1.62;1.6	4.9	1.3	0.21679	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.450276	0.18831	N	0.129962	T	0.06735	0.0172	N	0.01352	-0.895	0.25151	N	0.990424	B;B	0.27450	0.179;0.013	B;B	0.15484	0.013;0.011	T	0.27434	-1.0074	10	0.09338	T	0.73	-1.1375	2.6013	0.04867	0.2148:0.3824:0.0:0.4028	.	269;391	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	391;269	ENSP00000245908:A391T;ENSP00000393303:A269T	ENSP00000245908:A391T	A	-	1	0	SH2D3A	6705363	0.001000	0.12720	0.991000	0.47740	0.226000	0.24999	0.199000	0.17237	0.486000	0.27676	0.462000	0.41574	GCA		0.751	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	40	0	0	0	1	0	7	40				
CECR2	27443	broad.mit.edu	37	22	18022006	18022006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022006C>T	ENST00000400585.2	+	16	2123	c.1685C>T	c.(1684-1686)gCt>gTt	p.A562V	CECR2_ENST00000400573.5_Missense_Mutation_p.A703V|CECR2_ENST00000262608.8_Missense_Mutation_p.A704V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	745					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCATGTATGCTCCAGCTCAG	0.582																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2110-2112)gCt>gTt		cat eye syndrome chromosome region, candidate 2							24.0	26.0	25.0					22																	18022006		1954	4148	6102	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022006C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1685C>T	22.37:g.18022006C>T	ENSP00000383428:p.Ala562Val					CECR2_ENST00000400585.2_Missense_Mutation_p.A562V|CECR2_ENST00000400573.4_Missense_Mutation_p.A703V	p.A704V	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2111	+		all_epithelial(15;0.139)	745					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2111C>T		.	.	.	.	.	.	.	.	.	.	C	10.07	1.249044	0.22880	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.87;1.75	5.43	4.39	0.52855	.	0.517672	0.17787	N	0.162033	T	0.21267	0.0512	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23937	0.094;0.094;0.094	B;B;B	0.23852	0.049;0.031;0.031	T	0.23368	-1.0190	10	0.72032	D	0.01	-0.7584	16.1858	0.81950	0.0:0.8667:0.1333:0.0	.	745;562;703	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	562;703;704	ENSP00000383428:A562V;ENSP00000383417:A703V;ENSP00000262608:A704V	ENSP00000262608:A704V	A	+	2	0	CECR2	16402006	0.194000	0.23325	0.026000	0.17262	0.040000	0.13550	3.616000	0.54174	1.487000	0.48415	0.655000	0.94253	GCT		0.582	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		22	98	0	0	0	1	0	22	98				
CELSR1	9620	broad.mit.edu	37	22	46930291	46930291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46930291C>T	ENST00000262738.3	-	1	2776	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	926	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTACAGCAGACGCCCATTGGG	0.632																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(2776-2778)cGt>cAt		cadherin, EGF LAG seven-pass G-type receptor 1							36.0	33.0	34.0					22																	46930291		2200	4297	6497	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930291C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2777G>A	22.37:g.46930291C>T	ENSP00000262738:p.Arg926His					CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H	p.R926H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2776	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	926			Cadherin 7.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2777G>A	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.212976|3.212976	0.58452|0.58452	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.54479|.	0.57;0.57|.	4.42|4.42	4.42|4.42	0.53409|0.53409	Cadherin (4);Cadherin-like (1);|.	0.000000|.	0.64402|.	U|.	0.000012|.	T|T	0.68054|0.68054	0.2959|0.2959	L|L	0.48986|0.48986	1.54|1.54	0.40734|0.40734	D|D	0.982777|0.982777	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.67526|0.67526	-0.5648|-0.5648	10|5	0.72032|.	D|.	0.01|.	.|.	16.8638|16.8638	0.86024|0.86024	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	926|.	Q9NYQ6|.	CELR1_HUMAN|.	H|I	926|301	ENSP00000262738:R926H;ENSP00000379293:R926H|.	ENSP00000262738:R926H|.	R|V	-|-	2|1	0|0	CELSR1|CELSR1	45308955|45308955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.538000|0.538000	0.34931|0.34931	7.376000|7.376000	0.79658|0.79658	2.297000|2.297000	0.77311|0.77311	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		39	218	0	0	0	1	0	39	218				
ACADSB	36	broad.mit.edu	37	10	124800885	124800885	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800885A>G	ENST00000358776.4	+	5	685	c.671A>G	c.(670-672)gAc>gGc	p.D224G	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	224					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCAAATGTAGACCCTACCATT	0.398																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(670-672)gAc>gGc		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						123.0	119.0	120.0					10																	124800885		2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124800885A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.671A>G	10.37:g.124800885A>G	ENSP00000357873:p.Asp224Gly					ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G|ACADSB_ENST00000496730.2_3'UTR	p.D224G	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	5	685	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	224					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.671A>G	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	35	5.564262	0.96527	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99051	-5.37;-5.37	6.01	6.01	0.97437	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.203474	0.51477	D	0.000095	D	0.98349	0.9452	L	0.49256	1.55	0.47547	D	0.999456	P	0.35363	0.497	P	0.44673	0.457	D	0.99346	1.0913	10	0.66056	D	0.02	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	224	P45954	ACDSB_HUMAN	G	122;224	ENSP00000357862:D122G;ENSP00000357873:D224G	ENSP00000357873:D224G	D	+	2	0	ACADSB	124790875	1.000000	0.71417	0.451000	0.26982	0.662000	0.39071	8.954000	0.93051	2.307000	0.77673	0.528000	0.53228	GAC		0.398	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		40	587	0	0	0	1	0	40	587				
GNAT1	2779	broad.mit.edu	37	3	50230697	50230697	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50230697G>T	ENST00000433068.1	+	3	205		c.e3-1		GNAT1_ENST00000232461.3_Splice_Site	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTCGGCCTCAGGATTATCCAC	0.612											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e3-1		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							98.0	92.0	94.0					3																	50230697		2203	4300	6503	SO:0001630	splice_region_variant	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50230697G>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.150-1G>T	3.37:g.50230697G>T			OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	GNAT1_ENST00000433068.1_Splice_Site		NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	263	+								Q4VBN2	Splice_Site	SNP	ENST00000433068.1	37		CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043107	0.75732	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNAT1	50205701	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	9.668000	0.98619	2.573000	0.86826	0.655000	0.94253	.		0.612	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172	Intron	70	352	1	0	1.34568e-36	1	1.61182e-36	70	352				
OBSCN	84033	broad.mit.edu	37	1	228559429	228559429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559429C>T	ENST00000422127.1	+	94	20994	c.20950C>T	c.(20950-20952)Cga>Tga	p.R6984*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R7941*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6984	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCACAGCGACTGCCTTC	0.697																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23821-23823)Cga>Tga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							15.0	19.0	18.0					1																	228559429		1923	4075	5998	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559429C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20950C>T	1.37:g.228559429C>T	ENSP00000409493:p.Arg6984*					OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R6984*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*	p.R7941*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23895	+		Prostate(94;0.0405)	6984					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.23821C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.473702|83.473702	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|.	.|.	.|.	4.69|4.69	-8.05|-8.05	0.01106|0.01106	.|.	.|.	.|.	.|.	.|.	T|.	0.15652|.	0.0377|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32375|.	-0.9909|.	4|.	.|0.13470	.|T	.|0.59	.|.	7.8603|7.8603	0.29506|0.29506	0.0:0.3:0.4273:0.2728|0.0:0.3:0.4273:0.2728	.|.	.|.	.|.	.|.	V|X	1600|6984;4618	.|.	.|ENSP00000355668:R4618X	A|R	+|+	2|1	0|2	OBSCN|OBSCN	226626052|226626052	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.111000|0.111000	0.15458|0.15458	-1.059000|-1.059000	0.03193|0.03193	-1.102000|-1.102000	0.02115|0.02115	GCG|CGA		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		40	205	0	0	0	1	0	40	205				
TTC30A	92104	broad.mit.edu	37	2	178483364	178483364	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483364G>T	ENST00000355689.5	-	1	330	c.66C>A	c.(64-66)atC>atA	p.I22I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	22					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGGCATCGCGGATGAGCCGGT	0.672																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(64-66)atC>atA		tetratricopeptide repeat domain 30A							11.0	13.0	13.0					2																	178483364		2134	4240	6374	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178483364G>T	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.66C>A	2.37:g.178483364G>T							p.I22I	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	330	-			22					A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.66C>A	CCDS2276.1																																																																																				0.672	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		11	73	1	0	4.84862e-15	1	5.28562e-15	11	73				
ABCC5	10057	broad.mit.edu	37	3	183689433	183689433	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183689433T>A	ENST00000334444.6	-	11	1919	c.1679A>T	c.(1678-1680)gAa>gTa	p.E560V	ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	560					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTCTTCCTCTTCGGGACTGGG	0.607																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1678-1680)gAa>gTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							98.0	107.0	104.0					3																	183689433		2137	4244	6381	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183689433T>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1679A>T	3.37:g.183689433T>A	ENSP00000333926:p.Glu560Val					ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	p.E560V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		11	1919	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		560					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1679A>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.179968	0.38511	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.92048	-2.74;-2.96	4.94	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);	0.150530	0.44688	D	0.000437	D	0.90099	0.6907	L	0.61036	1.89	0.41621	D	0.988962	B;B	0.18461	0.001;0.028	B;B	0.13407	0.003;0.009	D	0.87123	0.2192	10	0.30078	T	0.28	-10.1008	15.2971	0.73916	0.0:0.0:0.0:1.0	.	560;560	Q86UX3;O15440	.;MRP5_HUMAN	V	560;496;560	ENSP00000333926:E560V;ENSP00000265586:E560V	ENSP00000265586:E560V	E	-	2	0	ABCC5	185172127	0.999000	0.42202	0.805000	0.32314	0.416000	0.31233	3.744000	0.55112	2.155000	0.67459	0.533000	0.62120	GAA		0.607	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		78	364	0	0	0	1	0	78	364				
ZBTB4	57659	broad.mit.edu	37	17	7366455	7366455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366455G>A	ENST00000311403.4	-	4	2185	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	616	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGATGCGGCGCTTGACGATG	0.647																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1846-1848)Cgc>Tgc		zinc finger and BTB domain containing 4							45.0	31.0	36.0					17																	7366455		2201	4300	6501	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366455G>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1846C>T	17.37:g.7366455G>A	ENSP00000307858:p.Arg616Cys					ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	p.R616C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2185	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	616			Glu-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1846C>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338633	0.60963	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.51817	0.69;0.69	4.87	3.86	0.44501	.	0.000000	0.64402	D	0.000001	T	0.64907	0.2641	M	0.69358	2.11	0.48511	D	0.999669	D	0.89917	1.0	D	0.85130	0.997	T	0.66779	-0.5837	10	0.54805	T	0.06	-14.8235	13.619	0.62126	0.0:0.0:0.8449:0.1551	.	616	Q9P1Z0	ZBTB4_HUMAN	C	616	ENSP00000307858:R616C;ENSP00000369973:R616C	ENSP00000307858:R616C	R	-	1	0	ZBTB4	7307179	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.648000	0.37271	2.533000	0.85409	0.462000	0.41574	CGC		0.647	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		16	80	0	0	0	1	0	16	80				
CCNA2	890	broad.mit.edu	37	4	122743722	122743722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743722G>A	ENST00000274026.5	-	2	596	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	98					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						AATGGTGAACGCAGGCTGTTT	0.418																																						ENST00000274026.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(292-294)gCg>gTg		cyclin A2							116.0	113.0	114.0					4																	122743722		2203	4300	6503	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122743722G>A		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.293C>T	4.37:g.122743722G>A	ENSP00000274026:p.Ala98Val						p.A98V	NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN			2	596	-			98					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.293C>T	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819230	0.71028	.	.	ENSG00000145386	ENST00000274026	T	0.16743	2.32	5.74	5.74	0.90152	.	0.254375	0.15847	U	0.241726	T	0.18425	0.0442	L	0.49350	1.555	0.37440	D	0.914368	B	0.31752	0.338	B	0.19666	0.026	T	0.09707	-1.0662	10	0.27785	T	0.31	.	18.7072	0.91643	0.0:0.0:1.0:0.0	.	98	P20248	CCNA2_HUMAN	V	98	ENSP00000274026:A98V	ENSP00000274026:A98V	A	-	2	0	CCNA2	122963172	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	4.921000	0.63397	2.715000	0.92844	0.655000	0.94253	GCG		0.418	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		103	430	0	0	0	1	0	103	430				
GNAI2	2771	broad.mit.edu	37	3	50290492	50290492	+	Missense_Mutation	SNP	G	G	A	rs368004918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50290492G>A	ENST00000313601.6	+	4	724	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	114					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A114T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GTCCTGCACCGCCGAGGAGCA	0.637																																						ENST00000313601.6																			2	Substitution - Missense(2)	p.A114T(2)	ovary(1)|prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(340-342)Gcc>Acc		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2		G	THR/ALA,THR/ALA	0,4406		0,0,2203	121.0	110.0	113.0		229,340	5.3	0.8	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAI2	NM_001166425.1,NM_002070.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	77/319,114/356	50290492	1,13005	2203	4300	6503	SO:0001583	missense	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50290492G>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.340G>A	3.37:g.50290492G>A	ENSP00000312999:p.Ala114Thr					GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T	p.A114T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	4	724	+			114					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	c.340G>A	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180559	0.78677	0.0	1.16E-4	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.34	5.34	0.76211	G protein alpha subunit, helical insertion (2);	0.049801	0.85682	D	0.000000	T	0.81758	0.4890	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.74884	-0.3512	10	0.29301	T	0.29	.	17.3557	0.87335	0.0:0.0:1.0:0.0	.	77;114;98;98	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	T	98;114;33;114;62;77;98	ENSP00000406871:A98T;ENSP00000312999:A114T;ENSP00000444360:A33T;ENSP00000395736:A62T;ENSP00000406369:A77T;ENSP00000266027:A98T	ENSP00000266027:A98T	A	+	1	0	GNAI2	50265496	1.000000	0.71417	0.768000	0.31515	0.949000	0.60115	6.693000	0.74582	2.884000	0.98904	0.655000	0.94253	GCC		0.637	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		134	759	0	0	0	1	0	134	759				
NCOA2	10499	broad.mit.edu	37	8	71069403	71069403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71069403G>T	ENST00000452400.2	-	11	1378	c.1197C>A	c.(1195-1197)agC>agA	p.S399R	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	399					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTGTTAGAGCTAATTGGAT	0.463			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1195-1197)agC>agA		nuclear receptor coactivator 2							62.0	61.0	61.0					8																	71069403		1946	4151	6097	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069403G>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1197C>A	8.37:g.71069403G>T	ENSP00000399968:p.Ser399Arg						p.S399R	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1378	-	Breast(64;0.201)		399					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1197C>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916455	0.17907	.	.	ENSG00000140396	ENST00000452400	T	0.01584	4.75	5.8	4.93	0.64822	.	0.133374	0.64402	D	0.000001	T	0.01800	0.0057	L	0.36672	1.1	0.80722	D	1	B	0.31910	0.346	B	0.27887	0.084	T	0.62062	-0.6933	10	0.38643	T	0.18	.	8.3779	0.32453	0.1384:0.1278:0.7338:0.0	.	399	Q15596	NCOA2_HUMAN	R	399	ENSP00000399968:S399R	ENSP00000399968:S399R	S	-	3	2	NCOA2	71231957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.486000	0.45259	1.451000	0.47736	0.563000	0.77884	AGC		0.463	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			36	146	1	0	2.42023e-17	1	2.67004e-17	36	146				
NEU4	129807	broad.mit.edu	37	2	242755732	242755732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242755732G>T	ENST00000391969.2	+	3	762	c.51G>T	c.(49-51)agG>agT	p.R17S	NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000407683.1_Missense_Mutation_p.R17S|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|NEU4_ENST00000405370.1_Missense_Mutation_p.R17S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	17					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGCGGGAGAGGACGGGCCTGA	0.692																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(49-51)agG>agT		sialidase 4							35.0	37.0	36.0					2																	242755732		2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755732G>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.51G>T	2.37:g.242755732G>T	ENSP00000375830:p.Arg17Ser					NEU4_ENST00000407683.1_Missense_Mutation_p.R17S|NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|NEU4_ENST00000405370.1_Missense_Mutation_p.R17S	p.R17S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	762	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	17					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.51G>T	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.375|0.375	-0.932103|-0.932103	0.02359|0.02359	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000472793|ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	.|T;D;T;T;T;T;T;D;D;T;T	.|0.83992	.|3.12;-1.79;3.12;3.12;3.12;3.12;3.12;-1.79;-1.79;3.12;3.12	3.76|3.76	-0.00139|-0.00139	0.14034|0.14034	.|Neuraminidase (2);	.|0.632273	.|0.15467	.|U	.|0.260836	T|T	0.60958|0.60958	0.2309|0.2309	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25169	.|0.073;0.119;0.069	.|B;B;B	.|0.20955	.|0.011;0.026;0.032	T|T	0.44862|0.44862	-0.9300|-0.9300	6|10	0.66056|0.13108	D|T	0.02|0.6	-18.7405|-18.7405	4.3633|4.3633	0.11213|0.11213	0.4027:0.398:0.1992:0.0|0.4027:0.398:0.1992:0.0	.|.	.|29;29;17	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	Y|S	41|17;17;17;17;29;17;30;17;29;17;58	.|ENSP00000385402:R17S;ENSP00000397167:R17S;ENSP00000384804:R17S;ENSP00000397860:R17S;ENSP00000385149:R29S;ENSP00000375830:R17S;ENSP00000320318:R30S;ENSP00000398571:R17S;ENSP00000406678:R29S;ENSP00000388707:R17S;ENSP00000396197:R58S	ENSP00000441629:D41Y|ENSP00000320318:R30S	D|R	+|+	1|3	0|2	NEU4|NEU4	242404405|242404405	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.152000|0.152000	0.21847|0.21847	-0.128000|-0.128000	0.10531|0.10531	0.100000|0.100000	0.17581|0.17581	0.443000|0.443000	0.29094|0.29094	GAC|AGG		0.692	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		62	241	1	0	1.55545e-33	1	1.84439e-33	62	241				
AGAP11	119385	broad.mit.edu	37	10	88752010	88752010	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88752010G>T	ENST00000444431.1	+	0	0				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GTAGGTTAGAGTTACTTGTTA	0.373																																						ENST00000433214.2																			0																																																			0							g.chr10:88752010G>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88752010G>T														0	371	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.373	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		28	146	1	0	9.39395e-14	1	1.01619e-13	28	146				
GPR65	8477	broad.mit.edu	37	14	88477387	88477387	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88477387A>C	ENST00000267549.3	+	2	754	c.196A>C	c.(196-198)Act>Cct	p.T66P	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	66					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTATGCATTAACTCTCCCTTT	0.378																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(196-198)Act>Cct		G protein-coupled receptor 65							157.0	154.0	155.0					14																	88477387		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477387A>C	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.196A>C	14.37:g.88477387A>C	ENSP00000267549:p.Thr66Pro					RP11-300J18.2_ENST00000554433.1_RNA	p.T66P	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	754	+			66					O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.196A>C	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165130	0.57476	.	.	ENSG00000140030	ENST00000267549	T	0.73789	-0.78	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.251553	0.29314	N	0.012518	D	0.87466	0.6184	M	0.87900	2.915	0.39757	D	0.971971	D	0.69078	0.997	D	0.67548	0.952	D	0.89914	0.4054	10	0.62326	D	0.03	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	66	Q8IYL9	PSYR_HUMAN	P	66	ENSP00000267549:T66P	ENSP00000267549:T66P	T	+	1	0	GPR65	87547140	0.975000	0.34042	0.897000	0.35233	0.482000	0.33219	5.096000	0.64535	2.221000	0.72209	0.528000	0.53228	ACT		0.378	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			13	702	0	0	0	1	0	13	702				
ACSBG1	23205	broad.mit.edu	37	15	78475047	78475047	+	Splice_Site	SNP	C	C	T	rs138877360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78475047C>T	ENST00000258873.4	-	6	949	c.744G>A	c.(742-744)acG>acA	p.T248T	ACSBG1_ENST00000541759.1_Splice_Site_p.T6T|ACSBG1_ENST00000560817.1_Splice_Site_p.T6T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	248					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCCCATACCGTGTACACAT	0.532																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.e6+1		acyl-CoA synthetase bubblegum family member 1							128.0	121.0	123.0					15																	78475047		2196	4293	6489	SO:0001630	splice_region_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78475047C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.744+1G>A	15.37:g.78475047C>T						ACSBG1_ENST00000560817.1_Splice_Site_p.T6_splice|ACSBG1_ENST00000541759.1_Splice_Site_p.T6_splice	p.T248_splice	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			6	949	-			248					B2RB61|O75126|Q76N27|Q9HC26	Splice_Site	SNP	ENST00000258873.4	37	c.744_splice	CCDS10298.1																																																																																				0.532	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	Silent	129	665	0	0	0	1	0	129	665				
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1225-1227)Gca>Aca		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						109.0	103.0	105.0					8																	126030321		1828	4076	5904	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126030321G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	8.37:g.126030321G>A	ENSP00000265896:p.Ala409Thr					SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	p.A409T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		8	2123	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		409					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.1225G>A	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA		0.353	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		23	209	0	0	0	1	0	23	209				
MAGI1	9223	broad.mit.edu	37	3	65342481	65342481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65342481G>A	ENST00000402939.2	-	23	3960	c.3961C>T	c.(3961-3963)Cgg>Tgg	p.R1321W	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1350					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTGGGGACCGCCTCTTGGGG	0.711																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3961-3963)Cgg>Tgg		membrane associated guanylate kinase, WW and PDZ domain containing 1							36.0	40.0	39.0					3																	65342481		2203	4298	6501	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342481G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3961C>T	3.37:g.65342481G>A	ENSP00000385450:p.Arg1321Trp					MAGI1_ENST00000330909.8_3'UTR	p.R1321W	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3960	-		Lung NSC(201;0.0016)	1350					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3961C>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495189	0.26774	.	.	ENSG00000151276	ENST00000402939	T	0.14022	2.54	5.31	0.16	0.14972	.	0.351946	0.28784	N	0.014145	T	0.09512	0.0234	L	0.27053	0.805	0.20764	N	0.99985	D	0.60160	0.987	B	0.43123	0.409	T	0.21655	-1.0239	10	0.72032	D	0.01	-8.2417	9.3632	0.38208	0.0:0.069:0.461:0.47	.	1321	Q96QZ7-2	.	W	1321	ENSP00000385450:R1321W	ENSP00000385450:R1321W	R	-	1	2	MAGI1	65317521	0.002000	0.14202	0.004000	0.12327	0.013000	0.08279	0.548000	0.23314	-0.203000	0.10251	-0.181000	0.13052	CGG		0.711	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		14	523	0	0	0	1	0	14	523				
SPECC1	92521	broad.mit.edu	37	17	20135100	20135100	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20135100T>C	ENST00000261503.5	+	6	2152	c.2101T>C	c.(2101-2103)Tca>Cca	p.S701P	SPECC1_ENST00000395530.2_Missense_Mutation_p.S620P|SPECC1_ENST00000395529.3_Missense_Mutation_p.S701P|SPECC1_ENST00000395525.3_Missense_Mutation_p.S620P|SPECC1_ENST00000395522.2_Missense_Mutation_p.S620P|SPECC1_ENST00000536879.1_Missense_Mutation_p.S41P|SPECC1_ENST00000395527.4_Missense_Mutation_p.S701P|SPECC1_ENST00000584527.1_Missense_Mutation_p.S119P|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_3'UTR	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	701					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGAACAGAAGTCAGACCTGGA	0.488																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1858-1860)Tca>Cca		sperm antigen with calponin homology and coiled-coil domains 1							109.0	110.0	109.0					17																	20135100		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20135100T>C	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2101T>C	17.37:g.20135100T>C	ENSP00000261503:p.Ser701Pro					SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395527.4_Missense_Mutation_p.S701P|SPECC1_ENST00000395522.2_Missense_Mutation_p.S620P|SPECC1_ENST00000395525.3_Missense_Mutation_p.S620P|SPECC1_ENST00000536879.1_Missense_Mutation_p.S41P|SPECC1_ENST00000395529.3_Missense_Mutation_p.S701P|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.S701P|SPECC1_ENST00000584527.1_Missense_Mutation_p.S119P	p.S620P	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	4	2066	+			701					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1858T>C	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095805	0.36952	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;D;D;D;D	0.83591	-0.09;-1.74;-1.71;-1.71;-1.71	4.15	3.07	0.35406	.	0.928503	0.09088	N	0.850366	T	0.76737	0.4029	L	0.36672	1.1	0.26753	N	0.970157	B;P;P;P;B	0.40250	0.323;0.709;0.709;0.709;0.323	B;B;B;B;B	0.43754	0.162;0.353;0.353;0.43;0.162	T	0.66799	-0.5832	10	0.39692	T	0.17	-5.9859	4.8122	0.13349	0.0:0.2174:0.0:0.7825	.	701;620;620;701;701	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	P	701;701;701;41;620;620;620	ENSP00000261503:S701P;ENSP00000378900:S701P;ENSP00000438294:S41P;ENSP00000378893:S620P;ENSP00000378896:S620P	ENSP00000261503:S701P	S	+	1	0	SPECC1	20075692	0.899000	0.30636	1.000000	0.80357	0.985000	0.73830	1.331000	0.33793	1.863000	0.54032	0.460000	0.39030	TCA		0.488	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		41	455	0	0	0	1	0	41	455				
PPAPDC1B	84513	broad.mit.edu	37	8	38123804	38123804	+	Silent	SNP	C	C	T	rs561458814	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38123804C>T	ENST00000424479.2	-	6	509	c.489G>A	c.(487-489)gcG>gcA	p.A163A	PPAPDC1B_ENST00000422581.2_Silent_p.A163A|PPAPDC1B_ENST00000531823.1_Silent_p.A31A|PPAPDC1B_ENST00000529359.1_Silent_p.A122A|PPAPDC1B_ENST00000530588.1_5'Flank	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	163					phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			GGTAGAAGGACGCAAAGGCCA	0.473													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19388	0.0		0.0	False		,,,				2504	0.001					ENST00000529359.1																			0				kidney(1)|lung(1)	2						c.(364-366)gcG>gcA		phosphatidic acid phosphatase type 2 domain containing 1B																																				SO:0001819	synonymous_variant	84513				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity	g.chr8:38123804C>T	AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.489G>A	8.37:g.38123804C>T						PPAPDC1B_ENST00000531823.1_Silent_p.A31A|PPAPDC1B_ENST00000422581.2_Silent_p.A163A|PPAPDC1B_ENST00000424479.2_Silent_p.A163A	p.A122A			Q8NEB5	PPC1B_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)		5	564	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	163					C9JKF5|Q3KQX6|Q9BY45	Silent	SNP	ENST00000424479.2	37	c.366G>A	CCDS47841.1																																																																																				0.473	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2	NM_032483		11	83	0	0	0	1	0	11	83				
NBEAL2	23218	broad.mit.edu	37	3	47041693	47041693	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47041693C>T	ENST00000450053.3	+	27	4283	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G	NBEAL2_ENST00000292309.5_Silent_p.G1184G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1368					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TAGGATCAGGCAACACTGCTG	0.637																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4102-4104)ggC>ggT		neurobeachin-like 2							98.0	104.0	102.0					3																	47041693		2104	4219	6323	SO:0001819	synonymous_variant	23218						binding	g.chr3:47041693C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4104C>T	3.37:g.47041693C>T						NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.G1184G	p.G1368G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4283	+		Acute lymphoblastic leukemia(5;0.0534)	1368					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4104C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	2.402	-0.337409	0.05278	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.48	1.16	0.20824	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.22401	N	0.999135	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	.	3.3069	0.07003	0.1209:0.4588:0.262:0.1583	.	.	.	.	V	656	.	.	A	+	2	0	NBEAL2	47016697	0.000000	0.05858	0.058000	0.19502	0.490000	0.33462	-0.017000	0.12590	0.251000	0.21505	0.561000	0.74099	GCA		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		102	480	0	0	0	1	0	102	480				
TIMM50	92609	broad.mit.edu	37	19	39972597	39972597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39972597C>A	ENST00000607714.1	+	2	205	c.183C>A	c.(181-183)agC>agA	p.S61R	TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000314349.4_Missense_Mutation_p.S164R|TIMM50_ENST00000599794.1_Intron			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	61					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTCCCAGCTATGCCAAAA	0.622																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(490-492)agC>agA		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							109.0	118.0	115.0					19																	39972597		2203	4300	6503	SO:0001583	missense	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39972597C>A	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.183C>A	19.37:g.39972597C>A	ENSP00000475531:p.Ser61Arg					TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Missense_Mutation_p.S61R	p.S164R	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	625	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		61			FCP1 homology.		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.492C>A		.	.	.	.	.	.	.	.	.	.	C	19.77	3.888964	0.72524	.	.	ENSG00000105197	ENST00000314349	.	.	.	4.65	2.53	0.30540	.	0.110348	0.64402	D	0.000009	T	0.55449	0.1921	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	D	0.66497	0.944	T	0.49418	-0.8942	8	.	.	.	-24.6103	8.1279	0.31010	0.0:0.735:0.0:0.265	.	164	Q3ZCQ8-2	.	R	164	.	.	S	+	3	2	TIMM50	44664437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.156000	0.31712	0.578000	0.29487	0.561000	0.74099	AGC		0.622	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		173	682	1	0	1.08347e-72	1	1.37854e-72	173	682				
EPSTI1	94240	broad.mit.edu	37	13	43538235	43538235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43538235T>G	ENST00000398762.3	-	4	371	c.372A>C	c.(370-372)caA>caC	p.Q124H	EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000313640.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000476830.2_5'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	124										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCAGCTGGAGTTGTTGTTTCT	0.363																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(370-372)caA>caC		epithelial stromal interaction 1 (breast)							147.0	135.0	139.0					13																	43538235		2203	4299	6502	SO:0001583	missense	94240							g.chr13:43538235T>G	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.372A>C	13.37:g.43538235T>G	ENSP00000381746:p.Gln124His					EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000398762.3_Missense_Mutation_p.Q124H	p.Q124H	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	4	436	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	124					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.372A>C	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030573	0.54790	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.22539	1.95	5.02	-4.44	0.03557	.	0.071421	0.56097	D	0.000026	T	0.38957	0.1060	M	0.71581	2.175	0.23162	N	0.998199	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.31752	-0.9932	10	0.87932	D	0	-14.6084	13.4021	0.60889	0.0:0.6759:0.0:0.3241	.	124;124	Q96J88-2;Q96J88-3	.;.	H	124	ENSP00000318982:Q124H	ENSP00000318643:Q124H	Q	-	3	2	EPSTI1	42436235	0.508000	0.26154	0.866000	0.34008	0.957000	0.61999	-0.301000	0.08232	-0.962000	0.03604	-0.250000	0.11733	CAA		0.363	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		29	151	0	0	0	1	0	29	151				
TFIP11	24144	broad.mit.edu	37	22	26902834	26902834	+	Silent	SNP	C	C	T	rs375849058		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26902834C>T	ENST00000407690.1	-	5	553	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TFIP11_ENST00000407431.1_Silent_p.A90A|TFIP11_ENST00000405938.1_Silent_p.A90A|TFIP11_ENST00000407148.1_Silent_p.A90A|TFIP11_ENST00000496523.1_5'Flank	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	90					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGCCTCCTCCGCTGCCCCTT	0.517																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(268-270)gcG>gcA		tuftelin interacting protein 11		C	,	1,4405	2.1+/-5.4	0,1,2202	88.0	81.0	84.0		270,270	-7.6	0.7	22		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TFIP11	NM_001008697.1,NM_012143.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	90/838,90/838	26902834	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26902834C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.270G>A	22.37:g.26902834C>T						TFIP11_ENST00000407148.1_Silent_p.A90A|TFIP11_ENST00000405938.1_Silent_p.A90A|TFIP11_ENST00000407431.1_Silent_p.A90A	p.A90A	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			5	553	-			90					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.270G>A	CCDS13838.1																																																																																				0.517	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		42	414	0	0	0	1	0	42	414				
CNOT1	23019	broad.mit.edu	37	16	58621318	58621318	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58621318C>T	ENST00000317147.5	-	5	642		c.e5-1		CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTTTAAACTCTGAAACAAAC	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.e5-1		CCR4-NOT transcription complex, subunit 1							76.0	80.0	79.0					16																	58621318		2198	4300	6498	SO:0001630	splice_region_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621318C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.310-1G>A	16.37:g.58621318C>T						CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site		NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	5	642	-								Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Splice_Site	SNP	ENST00000317147.5	37		CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372153	0.82573	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6356	0.95731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNOT1	57178819	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.650000	0.89964	0.655000	0.94253	.		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	Intron	61	281	0	0	0	1	0	61	281				
PRKAB2	5565	broad.mit.edu	37	1	146643671	146643671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146643671G>A	ENST00000254101.3	-	2	191	c.53C>T	c.(52-54)gCt>gTt	p.A18V	RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|RP11-337C18.8_ENST00000606757.1_RNA|PRKAB2_ENST00000425272.2_5'UTR	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	18					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GGAGCGTGCAGCCTTGGCGCC	0.701																																						ENST00000254101.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(52-54)gCt>gTt		protein kinase, AMP-activated, beta 2 non-catalytic subunit	Adenosine monophosphate(DB00131)						30.0	25.0	27.0					1																	146643671		2185	4282	6467	SO:0001583	missense	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146643671G>A	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.53C>T	1.37:g.146643671G>A	ENSP00000254101:p.Ala18Val					PRKAB2_ENST00000425272.2_5'UTR	p.A18V	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN			2	191	-	all_hematologic(923;0.0487)		18					A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	37	c.53C>T	CCDS925.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458603	0.63401	.	.	ENSG00000131791	ENST00000254101	.	.	.	4.23	4.23	0.50019	.	0.544208	0.19899	N	0.103548	T	0.27098	0.0664	N	0.19112	0.55	0.80722	D	1	B	0.14012	0.009	B	0.18263	0.021	T	0.08046	-1.0741	9	0.28530	T	0.3	.	14.1452	0.65347	0.0:0.0:1.0:0.0	.	18	O43741	AAKB2_HUMAN	V	18	.	ENSP00000254101:A18V	A	-	2	0	PRKAB2	145110295	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.694000	0.68272	2.179000	0.69175	0.591000	0.81541	GCT		0.701	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399		14	46	0	0	0	1	0	14	46				
APOA5	116519	broad.mit.edu	37	11	116661734	116661734	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661734G>T	ENST00000227665.4	-	3	245	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	APOA5_ENST00000542499.1_Missense_Mutation_p.L71M|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	71					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AGCTTTTCCAGGAACTTGTTC	0.587																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(211-213)Ctg>Atg		apolipoprotein A-V							22.0	25.0	24.0					11																	116661734		2187	4267	6454	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661734G>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.211C>A	11.37:g.116661734G>T	ENSP00000227665:p.Leu71Met					APOA5_ENST00000227665.4_Missense_Mutation_p.L71M	p.L71M	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	283	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	71					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.211C>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728506	0.30593	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;D	0.86097	-0.87;-0.87;-2.07	4.92	2.9	0.33743	Apolipoprotein/apolipophorin (1);	0.000000	0.44097	D	0.000495	D	0.90160	0.6925	M	0.80028	2.48	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.80334	-0.1426	10	0.42905	T	0.14	-15.7997	7.2775	0.26292	0.3041:0.0:0.6959:0.0	.	68;71	B0YIW1;Q6Q788	.;APOA5_HUMAN	M	71	ENSP00000227665:L71M;ENSP00000445002:L71M;ENSP00000399701:L71M	ENSP00000227665:L71M	L	-	1	2	APOA5	116166944	0.015000	0.18098	0.844000	0.33320	0.255000	0.26057	0.698000	0.25571	1.288000	0.44600	0.650000	0.86243	CTG		0.587	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			11	273	1	0	1.58986e-06	1	1.64048e-06	11	273				
PHKG1	5260	broad.mit.edu	37	7	56155447	56155447	+	Nonsense_Mutation	SNP	G	G	A	rs552608919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155447G>A	ENST00000297373.2	-	3	300	c.106C>T	c.(106-108)Cga>Tga	p.R36*	PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000452681.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	36	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGATGCATCGCCTGACCACA	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15519	0.0		0.0	False		,,,				2504	0.001				Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(106-108)Cga>Tga		phosphorylase kinase, gamma 1 (muscle)							57.0	47.0	50.0					7																	56155447		2203	4300	6503	SO:0001587	stop_gained	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56155447G>A	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.106C>T	7.37:g.56155447G>A	ENSP00000297373:p.Arg36*					PHKG1_ENST00000297373.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000489604.1_5'UTR	p.R36*	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	255	-	Breast(14;0.214)		36			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Nonsense_Mutation	SNP	ENST00000297373.2	37	c.106C>T	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	G	38	6.852304	0.97885	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	.	.	.	5.42	4.53	0.55603	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.7593	15.1354	0.72562	0.0:0.0:0.858:0.142	.	.	.	.	X	36	.	ENSP00000297373:R36X	R	-	1	2	PHKG1	56122941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.268000	0.51585	1.404000	0.46819	0.563000	0.77884	CGA		0.657	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		55	216	0	0	0	1	0	55	216				
HSPBAP1	79663	broad.mit.edu	37	3	122474183	122474183	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122474183A>C	ENST00000306103.2	-	5	808	c.665T>G	c.(664-666)gTt>gGt	p.V222G	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	222	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AGGATTGACAACATTGATTTT	0.393																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(664-666)gTt>gGt		HSPB (heat shock 27kDa) associated protein 1							92.0	84.0	87.0					3																	122474183		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122474183A>C	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.665T>G	3.37:g.122474183A>C	ENSP00000302562:p.Val222Gly					HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR	p.V222G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	5	808	-			222			JmjC.		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.665T>G	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576601	0.86645	.	.	ENSG00000169087	ENST00000306103	T	0.25749	1.78	5.24	5.24	0.73138	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.056069	0.64402	D	0.000001	T	0.51907	0.1702	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.56251	-0.8010	10	0.59425	D	0.04	.	14.3887	0.66963	1.0:0.0:0.0:0.0	.	222	Q96EW2	HBAP1_HUMAN	G	222	ENSP00000302562:V222G	ENSP00000302562:V222G	V	-	2	0	HSPBAP1	123956873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.569000	0.90744	1.994000	0.58287	0.473000	0.43528	GTT		0.393	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		25	258	0	0	0	1	0	25	258				
HEXDC	284004	broad.mit.edu	37	17	80391663	80391663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80391663C>T	ENST00000327949.9	+	4	423	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S|HEXDC_ENST00000337014.6_Missense_Mutation_p.P138S			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	138					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGCTACACCCAGGCGCCCA	0.627																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(412-414)Cca>Tca		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							31.0	35.0	33.0					17																	80391663		1942	4134	6076	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80391663C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.412C>T	17.37:g.80391663C>T	ENSP00000332634:p.Pro138Ser					HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S|HEXDC_ENST00000327949.9_Missense_Mutation_p.P138S	p.P138S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		5	886	+	Breast(20;0.00106)|all_neural(118;0.0804)		138					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.412C>T		.	.	.	.	.	.	.	.	.	.	C	5.128	0.209217	0.09757	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.91577	-2.87;-2.87	5.3	-1.34	0.09143	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.737833	0.12882	N	0.431343	D	0.87462	0.6183	M	0.66297	2.02	0.24115	N	0.995827	B;B	0.32283	0.362;0.34	B;B	0.33846	0.16;0.171	T	0.77983	-0.2382	10	0.45353	T	0.12	-3.3651	9.2246	0.37398	0.363:0.397:0.24:0.0	.	138;138	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	S	138	ENSP00000337854:P138S;ENSP00000332634:P138S	ENSP00000332634:P138S	P	+	1	0	HEXDC	77984952	0.000000	0.05858	0.058000	0.19502	0.145000	0.21501	-0.086000	0.11233	-0.097000	0.12307	0.563000	0.77884	CCA		0.627	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		48	266	0	0	0	1	0	48	266				
SSBP4	170463	broad.mit.edu	37	19	18541673	18541673	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18541673C>A	ENST00000270061.7	+	5	596	c.302C>A	c.(301-303)cCc>cAc	p.P101H	SSBP4_ENST00000348495.6_Missense_Mutation_p.P101H|SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	101						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						GCCCCCAGCCCCGTTATGGGG	0.662																																						ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(301-303)cCc>cAc		single stranded DNA binding protein 4							29.0	30.0	30.0					19																	18541673		2203	4300	6503	SO:0001583	missense	170463					nucleus	single-stranded DNA binding	g.chr19:18541673C>A		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.302C>A	19.37:g.18541673C>A	ENSP00000270061:p.Pro101His					SSBP4_ENST00000348495.5_Missense_Mutation_p.P101H	p.P101H	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			5	522	+			101					Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	c.302C>A	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299588	0.40694	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	2.8	2.8	0.32819	.	0.000000	0.64402	U	0.000002	T	0.74951	0.3784	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76022	-0.3111	9	0.54805	T	0.06	-2.5338	9.7153	0.40270	0.0:1.0:0.0:0.0	.	101;101	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	H	101	.	ENSP00000270061:P101H	P	+	2	0	SSBP4	18402673	0.998000	0.40836	0.656000	0.29637	0.081000	0.17604	4.604000	0.61112	1.523000	0.49018	0.561000	0.74099	CCC		0.662	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		32	160	1	0	3.03874e-20	1	3.40186e-20	32	160				
UTF1	8433	broad.mit.edu	37	10	135044157	135044157	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135044157A>G	ENST00000304477.2	+	1	380	c.365A>G	c.(364-366)aAa>aGa	p.K122R		NM_003577.2	NP_003568.2			undifferentiated embryonic cell transcription factor 1											upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		AAGTTCCTTAAAGACAAGTTT	0.721																																						ENST00000304477.2																			0				upper_aerodigestive_tract(1)	1						c.(364-366)aAa>aGa		undifferentiated embryonic cell transcription factor 1							3.0	4.0	4.0					10																	135044157		1626	3512	5138	SO:0001583	missense	8433				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity	g.chr10:135044157A>G	AB011076	CCDS31318.1	10q26	2008-07-04			ENSG00000171794	ENSG00000171794			12634	protein-coding gene	gene with protein product		604130				9748258, 18281244	Standard	NM_003577		Approved		uc001lmc.3	Q5T230	OTTHUMG00000019302	ENST00000304477.2:c.365A>G	10.37:g.135044157A>G	ENSP00000305906:p.Lys122Arg						p.K122R	NM_003577.2	NP_003568.2	Q5T230	UTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	380	+		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	122			Pro-rich.			Missense_Mutation	SNP	ENST00000304477.2	37	c.365A>G	CCDS31318.1	.	.	.	.	.	.	.	.	.	.	a	9.488	1.100029	0.20552	.	.	ENSG00000171794	ENST00000304477	T	0.50277	0.75	2.85	1.49	0.22878	.	.	.	.	.	T	0.38480	0.1042	N	0.08118	0	0.23050	N	0.998379	D	0.56521	0.976	D	0.63957	0.92	T	0.25082	-1.0142	9	0.16896	T	0.51	-9.6385	6.8123	0.23811	0.764:0.236:0.0:0.0	.	122	Q5T230	UTF1_HUMAN	R	122	ENSP00000305906:K122R	ENSP00000305906:K122R	K	+	2	0	UTF1	134894147	0.018000	0.18449	0.983000	0.44433	0.221000	0.24807	0.813000	0.27225	1.251000	0.43983	0.255000	0.18592	AAA		0.721	UTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051105.1			8	28	0	0	0	1	0	8	28				
GPRC5B	51704	broad.mit.edu	37	16	19883350	19883350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883350G>A	ENST00000300571.2	-	2	1009	c.818C>T	c.(817-819)gCc>gTc	p.A273V	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	273					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGTGATGGCCAAGGTGGG	0.622																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(817-819)gCc>gTc		G protein-coupled receptor, family C, group 5, member B							70.0	76.0	74.0					16																	19883350		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883350G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.818C>T	16.37:g.19883350G>A	ENSP00000300571:p.Ala273Val					GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V	p.A273V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1009	-			273					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.818C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551288	0.86127	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.88431	-2.38;-2.38;-2.38	5.18	5.18	0.71444	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.977	D	0.94209	0.7457	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	299;273	B7Z831;Q9NZH0	.;GPC5B_HUMAN	V	273;273;122;299	ENSP00000300571:A273V;ENSP00000442858:A273V;ENSP00000441775:A299V	.	A	-	2	0	GPRC5B	19790851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.640000	0.83355	2.688000	0.91661	0.655000	0.94253	GCC		0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			57	214	0	0	0	1	0	57	214				
PIWIL3	440822	broad.mit.edu	37	22	25144975	25144975	+	Nonsense_Mutation	SNP	G	G	A	rs201028643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25144975G>A	ENST00000332271.5	-	12	1764	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R341*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	450					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTAACTCTCGTACTTTTTTA	0.353																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1348-1350)Cga>Tga		piwi-like RNA-mediated gene silencing 3		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	58.0	58.0	58.0		1348	1.2	0.0	22		58	0,8600		0,0,4300	yes	stop-gained	PIWIL3	NM_001008496.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		450/883	25144975	2,13004	2203	4300	6503	SO:0001587	stop_gained	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25144975G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1348C>T	22.37:g.25144975G>A	ENSP00000330031:p.Arg450*					PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000532537.2_5'UTR	p.R450*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			12	1764	-			450						Nonsense_Mutation	SNP	ENST00000332271.5	37	c.1348C>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	38	6.678384	0.97755	4.54E-4	0.0	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	.	.	.	2.29	1.22	0.21188	.	0.304714	0.31020	U	0.008412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-1.0893	8.1043	0.30877	0.0:0.0:0.7572:0.2427	.	.	.	.	X	450;341;341	.	ENSP00000330031:R450X	R	-	1	2	PIWIL3	23474975	0.483000	0.25956	0.001000	0.08648	0.003000	0.03518	3.170000	0.50816	0.505000	0.28104	0.313000	0.20887	CGA		0.353	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		9	328	0	0	0	1	0	9	328				
ZNF100	163227	broad.mit.edu	37	19	21909803	21909803	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21909803A>C	ENST00000358296.6	-	5	1509	c.1311T>G	c.(1309-1311)gcT>gcG	p.A437A	ZNF100_ENST00000305570.6_Silent_p.A373A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACTCATTAAAAGCTTTGCCAC	0.423																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1309-1311)gcT>gcG		zinc finger protein 100							69.0	76.0	73.0					19																	21909803		2200	4296	6496	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909803A>C	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1311T>G	19.37:g.21909803A>C						ZNF100_ENST00000305570.6_Silent_p.A373A	p.A437A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	1509	-			437					Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.1311T>G	CCDS42538.1																																																																																				0.423	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		85	360	0	0	0	1	0	85	360				
KMT2D	8085	broad.mit.edu	37	12	49435265	49435265	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49435265C>A	ENST00000301067.7	-	31	6287	c.6288G>T	c.(6286-6288)aaG>aaT	p.K2096N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2096					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCGGTCAGTCTTACGGGCTA	0.657																																						ENST00000301067.7																			0											c.(6286-6288)aaG>aaT		lysine (K)-specific methyltransferase 2D							57.0	63.0	61.0					12																	49435265		2055	4190	6245	SO:0001583	missense	8085							g.chr12:49435265C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6288G>T	12.37:g.49435265C>A	ENSP00000301067:p.Lys2096Asn						p.K2096N	NM_003482.3	NP_003473.3					31	6287	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6288G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	7.579	0.668346	0.14776	.	.	ENSG00000167548	ENST00000301067	T	0.80480	-1.38	4.14	4.14	0.48551	.	0.000000	0.34484	N	0.003932	T	0.65123	0.2661	N	0.14661	0.345	0.28783	N	0.899755	P	0.48230	0.907	B	0.41036	0.346	T	0.66548	-0.5896	10	0.87932	D	0	.	9.9782	0.41797	0.0:0.9031:0.0:0.0969	.	2096	O14686	MLL2_HUMAN	N	2096	ENSP00000301067:K2096N	ENSP00000301067:K2096N	K	-	3	2	MLL2	47721532	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.913000	0.28611	2.599000	0.87857	0.561000	0.74099	AAG		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			46	305	1	0	2.13384e-23	1	2.42615e-23	46	305				
EOGT	285203	broad.mit.edu	37	3	69027535	69027535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69027535G>A	ENST00000383701.3	-	17	2128	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	EOGT_ENST00000540764.1_Silent_p.G361G|EOGT_ENST00000540955.1_Silent_p.G186G|EOGT_ENST00000295571.5_Silent_p.G378G	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	462					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TGTAGTGAACGCCTCTCAGCC	0.418																																						ENST00000383701.3																			0											c.(1384-1386)ggC>ggT		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							146.0	131.0	136.0					3																	69027535		2203	4300	6503	SO:0001819	synonymous_variant	285203							g.chr3:69027535G>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1386C>T	3.37:g.69027535G>A						EOGT_ENST00000540955.1_Silent_p.G186G|EOGT_ENST00000295571.5_Silent_p.G378G|EOGT_ENST00000540764.1_Silent_p.G361G	p.G462G	NM_001278689.1	NP_001265618.1					17	2128	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37	c.1386C>T																																																																																					0.418	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		113	311	0	0	0	1	0	113	311				
IPO4	79711	broad.mit.edu	37	14	24646947	24646947	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646947G>A	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.A282T|REC8_ENST00000559919.1_Missense_Mutation_p.A282T	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCGTCTGCCAGCCCCACCCAG	0.637																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(844-846)Gcc>Acc		REC8 meiotic recombination protein							31.0	39.0	36.0					14																	24646947		2010	4178	6188	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24646947G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24646947G>A						REC8_ENST00000559919.1_Missense_Mutation_p.A282T	p.A282T			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	12	1443	+			283			Glu-rich.|Pro-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.844G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	9.906	1.208192	0.22205	.	.	ENSG00000100918	ENST00000311457	T	0.24151	1.87	5.21	-1.75	0.08031	.	1.027860	0.07705	N	0.941037	T	0.17959	0.0431	L	0.33485	1.01	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.35649	-0.9780	10	0.11794	T	0.64	-0.8279	12.2069	0.54356	0.0772:0.625:0.2978:0.0	.	283	O95072	REC8_HUMAN	T	282	ENSP00000308699:A282T	ENSP00000308699:A282T	A	+	1	0	REC8	23716787	0.000000	0.05858	0.019000	0.16419	0.953000	0.61014	-0.938000	0.03938	-0.160000	0.11002	0.561000	0.74099	GCC		0.637	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		9	204	0	0	0	1	0	9	204				
MYH13	8735	broad.mit.edu	37	17	10265484	10265484	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10265484C>T	ENST00000418404.3	-	4	619	c.456G>A	c.(454-456)ccG>ccA	p.P152P	MYH13_ENST00000252172.4_Silent_p.P152P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	152	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGATGTGGGGCGGGGCCTCCT	0.502																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(454-456)ccG>ccA		myosin, heavy chain 13, skeletal muscle							99.0	110.0	106.0					17																	10265484		2203	4297	6500	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265484C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.456G>A	17.37:g.10265484C>T						MYH13_ENST00000570743.1_Silent_p.P152P|MYH13_ENST00000252172.4_Silent_p.P152P	p.P152P			Q9UKX3	MYH13_HUMAN			4	619	-			152			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.456G>A	CCDS45613.1																																																																																				0.502	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		57	826	0	0	0	1	0	57	826				
SLC9A5	6553	broad.mit.edu	37	16	67289057	67289057	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67289057C>T	ENST00000299798.11	+	3	689	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	208					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(622-624)ggC>ggT		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							116.0	117.0	117.0					16																	67289057		2181	4284	6465	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289057C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.624C>T	16.37:g.67289057C>T						SLC9A5_ENST00000561472.2_3'UTR	p.G208G	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	3	689	+		Ovarian(137;0.0563)	208					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.624C>T	CCDS42178.1																																																																																				0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			96	422	0	0	0	1	0	96	422				
CHML	1122	broad.mit.edu	37	1	241798700	241798700	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798700A>C	ENST00000366553.1	-	1	532	c.369T>G	c.(367-369)ccT>ccG	p.P123P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	123					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCCCCAAAGAAGGATTTTTCT	0.423																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(367-369)ccT>ccG		choroideremia-like (Rab escort protein 2)							145.0	150.0	148.0					1																	241798700		2203	4298	6501	SO:0001819	synonymous_variant	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798700A>C	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.369T>G	1.37:g.241798700A>C						OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.P123P	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	532	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	123					B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	ENST00000366553.1	37	c.369T>G	CCDS31073.1																																																																																				0.423	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		34	1366	0	0	0	1	0	34	1366				
CHST15	51363	broad.mit.edu	37	10	125804220	125804220	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804220C>T	ENST00000346248.5	-	3	1404	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_ENST00000435907.1_Silent_p.P254P|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Silent_p.P254P	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	254					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGTAGAAGTGCGGCAGGCAGC	0.657																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(760-762)ccG>ccA		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							43.0	44.0	44.0					10																	125804220		2203	4300	6503	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804220C>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.762G>A	10.37:g.125804220C>T						CHST15_ENST00000435907.1_Silent_p.P254P|CHST15_ENST00000421115.1_Silent_p.P254P	p.P254P	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			3	1404	-			254					O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.762G>A	CCDS7638.1																																																																																				0.657	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		47	174	0	0	0	1	0	47	174				
NLRP2	55655	broad.mit.edu	37	19	55501543	55501543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55501543C>T	ENST00000543010.1	+	9	2663	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000391721.4_Silent_p.C816C|NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000538819.1_Silent_p.C816C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	840					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCCCAAGTGCTTTCTGCAGA	0.512																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2518-2520)tgC>tgT		NLR family, pyrin domain containing 2							106.0	90.0	95.0					19																	55501543		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501543C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2520C>T	19.37:g.55501543C>T						NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000391721.4_Silent_p.C816C|NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000538819.1_Silent_p.C816C	p.C840C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	9	2663	+			840					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2520C>T	CCDS12913.1																																																																																				0.512	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		81	321	0	0	0	1	0	81	321				
LCP1	3936	broad.mit.edu	37	13	46733793	46733793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46733793G>A	ENST00000398576.2	-	5	393	c.5C>T	c.(4-6)gCc>gTc	p.A2V	LCP1_ENST00000323076.2_Missense_Mutation_p.A2V|LCP1_ENST00000460190.1_5'UTR			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	2					actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATCCTCTGGCCATTTTTTA	0.388			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(4-6)gCc>gTc		lymphocyte cytosolic protein 1 (L-plastin)							138.0	121.0	127.0					13																	46733793		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46733793G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.5C>T	13.37:g.46733793G>A	ENSP00000381581:p.Ala2Val					LCP1_ENST00000323076.2_Missense_Mutation_p.A2V|LCP1_ENST00000460190.1_5'UTR	p.A2V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	5	393	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	2					B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.5C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012336	0.75046	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.74421	-0.84;-0.84;0.29;-0.03	5.13	5.13	0.70059	.	0.109676	0.64402	D	0.000011	T	0.66694	0.2815	L	0.35723	1.085	0.80722	D	1	B	0.32573	0.376	B	0.30646	0.118	T	0.70114	-0.4961	10	0.72032	D	0.01	-15.4324	16.1014	0.81175	0.0:0.0:1.0:0.0	.	2	P13796	PLSL_HUMAN	V	2	ENSP00000315757:A2V;ENSP00000381581:A2V;ENSP00000408052:A2V;ENSP00000402157:A2V	ENSP00000315757:A2V	A	-	2	0	LCP1	45631794	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.708000	0.61859	2.532000	0.85374	0.655000	0.94253	GCC		0.388	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		47	229	0	0	0	1	0	47	229				
EYA1	2138	broad.mit.edu	37	8	72128969	72128969	+	Missense_Mutation	SNP	G	G	A	rs376931849		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72128969G>A	ENST00000340726.3	-	14	1957	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	EYA1_ENST00000388740.3_Missense_Mutation_p.R407W|EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388743.2_Missense_Mutation_p.R439W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	440			R -> Q (in BOR1). {ECO:0000269|PubMed:10464653, ECO:0000269|PubMed:21280147}.		anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCTTTTACCCGTCTGTAGCGG	0.463																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1318-1320)Cgg>Tgg		eyes absent homolog 1 (Drosophila)		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	196.0	171.0	179.0		1318,1318,1213,1219	4.5	1.0	8		179	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	101,101,101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	440/593,440/593,405/558,407/560	72128969	2,13004	2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72128969G>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1318C>T	8.37:g.72128969G>A	ENSP00000342626:p.Arg440Trp					EYA1_ENST00000388743.2_Missense_Mutation_p.R439W|EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388740.3_Missense_Mutation_p.R407W	p.R440W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		14	1957	-	Breast(64;0.046)		440		R -> Q (in BOR1).			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1318C>T	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916777	0.73098	0.0	2.33E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.44	4.53	0.55603	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.967;0.988;0.991;0.967;0.992	D	0.91073	0.4894	10	0.87932	D	0	-12.6378	13.5438	0.61690	0.0:0.0:0.7247:0.2753	.	434;367;407;440;405	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	W	440;440;408;407;434;406;439;405	ENSP00000373394:R440W;ENSP00000342626:R440W;ENSP00000373392:R407W;ENSP00000303221:R434W;ENSP00000373393:R406W;ENSP00000373395:R439W;ENSP00000410176:R405W	ENSP00000303221:R434W	R	-	1	2	EYA1	72291523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.373000	0.59537	2.832000	0.97577	0.655000	0.94253	CGG		0.463	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		102	393	0	0	0	1	0	102	393				
C20orf195	79025	broad.mit.edu	37	20	62187575	62187575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187575C>T	ENST00000370098.3	+	2	651	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	187						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGTCAAGCACCGCCTGGTGTC	0.647																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(559-561)Cgc>Tgc		chromosome 20 open reading frame 195							72.0	72.0	72.0					20																	62187575		2203	4300	6503	SO:0001583	missense	79025							g.chr20:62187575C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.559C>T	20.37:g.62187575C>T	ENSP00000359116:p.Arg187Cys					C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	p.R187C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	651	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		187						Missense_Mutation	SNP	ENST00000370098.3	37	c.559C>T	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539105	0.45176	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000046	T	0.65678	0.2714	L	0.29908	0.895	0.46586	D	0.999115	D	0.89917	1.0	D	0.71414	0.973	T	0.68842	-0.5302	9	0.87932	D	0	-28.6082	15.6531	0.77112	0.1377:0.8623:0.0:0.0	.	187	Q9BVV2	CT195_HUMAN	C	187	.	ENSP00000359115:R187C	R	+	1	0	C20orf195	61658019	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.253000	0.43205	2.573000	0.86826	0.655000	0.94253	CGC		0.647	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		139	576	0	0	0	1	0	139	576				
CACNA1E	777	broad.mit.edu	37	1	181693628	181693628	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693628G>A	ENST00000367573.2	+	17	2097	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L	CACNA1E_ENST00000367570.1_Silent_p.L699L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000526775.1_Silent_p.L699L|CACNA1E_ENST00000358338.5_Silent_p.L650L|CACNA1E_ENST00000357570.5_Silent_p.L650L|CACNA1E_ENST00000367567.4_Silent_p.L306L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	699					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCTTGGCTATCGCTG	0.463																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2095-2097)ttG>ttA		calcium channel, voltage-dependent, R type, alpha 1E subunit							141.0	131.0	134.0					1																	181693628		1981	4170	6151	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181693628G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2097G>A	1.37:g.181693628G>A						CACNA1E_ENST00000367567.4_Silent_p.L306L|CACNA1E_ENST00000358338.5_Silent_p.L650L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000367570.1_Silent_p.L699L|CACNA1E_ENST00000367573.2_Silent_p.L699L|CACNA1E_ENST00000357570.5_Silent_p.L650L	p.L699L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			17	2262	+			699					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.2097G>A	CCDS55664.1																																																																																				0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		17	79	0	0	0	1	0	17	79				
FBF1	85302	broad.mit.edu	37	17	73915865	73915865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73915865C>T	ENST00000586717.1	-	19	2253	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	FBF1_ENST00000319129.5_Silent_p.S659S|FBF1_ENST00000389570.4_Silent_p.S660S			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	660					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTGGCACTGCGACAGATACC	0.627																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(1978-1980)tcG>tcA		Fas (TNFRSF6) binding factor 1							72.0	74.0	73.0					17																	73915865		2036	4187	6223	SO:0001819	synonymous_variant	85302							g.chr17:73915865C>T	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1980G>A	17.37:g.73915865C>T						FBF1_ENST00000319129.5_Silent_p.S659S|FBF1_ENST00000389570.4_Silent_p.S660S	p.S660S			A6NLR5	A6NLR5_HUMAN			19	2253	-			659					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	37	c.1980G>A																																																																																					0.627	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		44	238	0	0	0	1	0	44	238				
KCNQ5	56479	broad.mit.edu	37	6	73904434	73904434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73904434C>T	ENST00000370398.1	+	14	2205	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A718V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	699					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAGTTCAGTGCCCAGACTTTC	0.512																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2152-2154)gCc>gTc		potassium voltage-gated channel, KQT-like subfamily, member 5							135.0	134.0	134.0					6																	73904434		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904434C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2096C>T	6.37:g.73904434C>T	ENSP00000359425:p.Ala699Val					KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V|KCNQ5_ENST00000370398.1_Missense_Mutation_p.A699V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V	p.A718V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	15	2551	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	699					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2153C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954657	0.34471	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99369	-5.57;-5.57;-5.57;-5.57;-5.58;-5.61;-5.78	5.32	5.32	0.75619	.	0.212896	0.39341	N	0.001382	D	0.96516	0.8863	L	0.40543	1.245	0.25032	N	0.991266	B;B;B;B;B	0.24368	0.102;0.004;0.046;0.076;0.046	B;B;B;B;B	0.27380	0.079;0.026;0.045;0.047;0.045	D	0.93106	0.6512	10	0.38643	T	0.18	-5.5489	14.5834	0.68308	0.0:0.8541:0.1459:0.0	.	589;709;718;690;699	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	718;718;699;699;709;700;690;589	ENSP00000345055:A718V;ENSP00000347326:A699V;ENSP00000359425:A699V;ENSP00000385501:A709V;ENSP00000347853:A700V;ENSP00000384453:A690V;ENSP00000409861:A589V	ENSP00000345055:A718V	A	+	2	0	KCNQ5	73961155	0.997000	0.39634	0.859000	0.33776	0.975000	0.68041	3.482000	0.53186	2.486000	0.83907	0.561000	0.74099	GCC		0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		115	566	0	0	0	1	0	115	566				
NOP9	161424	broad.mit.edu	37	14	24772330	24772330	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24772330C>T	ENST00000267425.3	+	6	1287	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	NOP9_ENST00000396802.3_Silent_p.A398A	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	398							poly(A) RNA binding (GO:0044822)										CTGTATTGGCCCAGGGCCACC	0.572																																						ENST00000267425.3																			0											c.(1192-1194)gcC>gcT		NOP9 nucleolar protein							83.0	78.0	79.0					14																	24772330		2203	4300	6503	SO:0001819	synonymous_variant	161424							g.chr14:24772330C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1194C>T	14.37:g.24772330C>T						NOP9_ENST00000396802.3_Silent_p.A398A	p.A398A	NM_174913.1	NP_777573.1					6	1287	+								A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.1194C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	9.639	1.138542	0.21123	.	.	ENSG00000196943	ENST00000557362	.	.	.	5.16	-5.85	0.02311	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39057	-0.9632	4	.	.	.	-10.4345	1.1116	0.01705	0.2178:0.2927:0.107:0.3825	.	.	.	.	L	24	.	.	P	+	2	0	C14orf21	23842170	0.016000	0.18221	0.909000	0.35828	0.779000	0.44077	-2.151000	0.01289	-0.965000	0.03591	-0.244000	0.11960	CCC		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			58	337	0	0	0	1	0	58	337				
CLCA1	1179	broad.mit.edu	37	1	86948009	86948009	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86948009C>A	ENST00000234701.3	+	6	1030	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	227					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGAGTTTGTTCTCCAATCCCG	0.413																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(679-681)Ctc>Atc		chloride channel accessory 1							136.0	129.0	132.0					1																	86948009		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86948009C>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.679C>A	1.37:g.86948009C>A	ENSP00000234701:p.Leu227Ile					CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I	p.L227I			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	6	1030	+		Lung NSC(277;0.239)	227					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.679C>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728078	0.48833	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.11604	2.76;2.76	5.49	5.49	0.81192	Chloride channel calcium-activated (1);	0.129596	0.52532	D	0.000080	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	0.999993	B	0.09022	0.002	B	0.10450	0.005	T	0.21827	-1.0234	10	0.54805	T	0.06	-5.6807	18.5051	0.90894	0.0:1.0:0.0:0.0	.	227	A8K7I4	CLCA1_HUMAN	I	227	ENSP00000234701:L227I;ENSP00000378200:L227I	ENSP00000234701:L227I	L	+	1	0	CLCA1	86720597	0.483000	0.25956	0.022000	0.16811	0.002000	0.02628	4.384000	0.59607	2.746000	0.94184	0.655000	0.94253	CTC		0.413	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		40	251	1	0	4.67007e-22	1	5.27622e-22	40	251				
NARS2	79731	broad.mit.edu	37	11	78277273	78277273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78277273G>A	ENST00000281038.5	-	4	793	c.418C>T	c.(418-420)Cga>Tga	p.R140*	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	140					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GGATATTGTCGCAGATACTCC	0.373																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(418-420)Cga>Tga		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						91.0	89.0	90.0					11																	78277273		2200	4291	6491	SO:0001587	stop_gained	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78277273G>A	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.418C>T	11.37:g.78277273G>A	ENSP00000281038:p.Arg140*					NARS2_ENST00000528850.1_5'UTR	p.R140*	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			4	793	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		140					G3V178	Nonsense_Mutation	SNP	ENST00000281038.5	37	c.418C>T	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198350	0.79015	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.13	2.6	0.31112	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3496	11.5876	0.50927	0.0:0.0:0.3858:0.6142	.	.	.	.	X	140	.	ENSP00000281038:R140X	R	-	1	2	NARS2	77954921	1.000000	0.71417	0.998000	0.56505	0.209000	0.24338	1.833000	0.39161	0.898000	0.36418	-0.264000	0.10439	CGA		0.373	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		76	310	0	0	0	1	0	76	310				
SYCP2	10388	broad.mit.edu	37	20	58476773	58476773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58476773C>T	ENST00000357552.3	-	16	1351	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	376					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTAGTGATGCGTCAAAATAC	0.274																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1126-1128)Gca>Aca		synaptonemal complex protein 2							72.0	70.0	71.0					20																	58476773		2199	4288	6487	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58476773C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1126G>A	20.37:g.58476773C>T	ENSP00000350162:p.Ala376Thr					SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T	p.A376T			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		16	1351	-	all_lung(29;0.00344)		376					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1126G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966788	0.34659	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18810	2.45;2.45;2.19	5.59	1.07	0.20283	.	1.172000	0.06052	N	0.656683	T	0.14743	0.0356	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27498	0.054;0.18	B;B	0.20384	0.013;0.029	T	0.31641	-0.9936	10	0.10636	T	0.68	-0.9909	2.8299	0.05496	0.1196:0.5126:0.129:0.2388	.	376;376	A2A341;Q9BX26	.;SYCP2_HUMAN	T	376	ENSP00000360040:A376T;ENSP00000350162:A376T;ENSP00000402456:A376T	ENSP00000350162:A376T	A	-	1	0	SYCP2	57910168	0.660000	0.27420	0.619000	0.29118	0.977000	0.68977	-0.016000	0.12613	0.309000	0.22966	0.650000	0.86243	GCA		0.274	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		25	132	0	0	0	1	0	25	132				
VPS13A	23230	broad.mit.edu	37	9	79934591	79934591	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79934591T>C	ENST00000360280.3	+	42	5675		c.e42+2		VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						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						GGTATCAAGGtatatctatat	0.289																																						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.e42+2		vacuolar protein sorting 13 homolog A (S. cerevisiae)							75.0	74.0	75.0					9																	79934591		2202	4299	6501	SO:0001630	splice_region_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79934591T>C	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.5415+2T>C	9.37:g.79934591T>C						VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site		NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			42	5675	+								Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Splice_Site	SNP	ENST00000360280.3	37		CCDS6655.1																																																																																				0.289	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Intron	21	89	0	0	0	1	0	21	89				
CEACAM4	1089	broad.mit.edu	37	19	42132106	42132106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42132106C>T	ENST00000221954.2	-	2	403	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	98	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TACTGTCTCTCGACCACTGTA	0.493																																						ENST00000221954.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(292-294)cGa>cAa		carcinoembryonic antigen-related cell adhesion molecule 4							182.0	168.0	173.0					19																	42132106		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132106C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.293G>A	19.37:g.42132106C>T	ENSP00000221954:p.Arg98Gln					CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	p.R98Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	403	-			98			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.293G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647691	0.47258	.	.	ENSG00000105352	ENST00000221954	T	0.72282	-0.64	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84506	0.5487	M	0.90870	3.155	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.968	T	0.70339	-0.4899	9	0.72032	D	0.01	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	98;98	E7EMX3;O75871	.;CEAM4_HUMAN	Q	98	ENSP00000221954:R98Q	ENSP00000221954:R98Q	R	-	2	0	CEACAM4	46823946	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	0.162000	0.16501	1.281000	0.44480	0.205000	0.17691	CGA		0.493	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		166	749	0	0	0	1	0	166	749				
CDKN2AIP	55602	broad.mit.edu	37	4	184367459	184367459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184367459C>T	ENST00000504169.1	+	3	829	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	208	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGGAGATCGATCTGTTTC	0.507																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(622-624)Cga>Tga		CDKN2A interacting protein							96.0	92.0	93.0					4																	184367459		2203	4300	6503	SO:0001587	stop_gained	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367459C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.622C>T	4.37:g.184367459C>T	ENSP00000427108:p.Arg208*					CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	p.R208*	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	829	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	208			Ser-rich.		Q8TBM5|Q9NYH0	Nonsense_Mutation	SNP	ENST00000504169.1	37	c.622C>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586677	0.28268	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.44	-6.48	0.01896	.	0.793526	0.10870	N	0.625049	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	2.12	3.8523	0.08960	0.5624:0.1348:0.1711:0.1318	.	.	.	.	X	208	.	ENSP00000427108:R208X	R	+	1	2	CDKN2AIP	184604453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-0.857000	0.04115	-1.014000	0.02459	CGA		0.507	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		19	323	0	0	0	1	0	19	323				
SPTBN2	6712	broad.mit.edu	37	11	66461759	66461759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66461759C>T	ENST00000533211.1	-	22	4685	c.4354G>A	c.(4354-4356)Gag>Aag	p.E1452K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1452					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCTGGTCCTCCTGGGCCAGT	0.642											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4354-4356)Gag>Aag		spectrin, beta, non-erythrocytic 2							66.0	55.0	59.0					11																	66461759		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66461759C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4354G>A	11.37:g.66461759C>T	ENSP00000432568:p.Glu1452Lys		OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K	p.E1452K			O15020	SPTN2_HUMAN			22	4685	-			1452					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4354G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659003	0.96734	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69778	-0.5053	10	0.23302	T	0.38	.	16.4261	0.83815	0.0:1.0:0.0:0.0	.	1452	O15020	SPTN2_HUMAN	K	1452	ENSP00000432568:E1452K;ENSP00000311489:E1452K;ENSP00000433593:E1452K	ENSP00000311489:E1452K	E	-	1	0	SPTBN2	66218335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.892000	0.69790	2.397000	0.81536	0.563000	0.77884	GAG		0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		13	320	0	0	0	1	0	13	320				
MMACHC	25974	broad.mit.edu	37	1	45965085	45965085	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45965085C>T	ENST00000401061.4	+	0	0				CCDC163P_ENST00000488405.2_Missense_Mutation_p.E37K|CCDC163P_ENST00000502793.2_5'Flank|CCDC163P_ENST00000432082.1_Missense_Mutation_p.E37K|CCDC163P_ENST00000490551.3_Missense_Mutation_p.E37K	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria						cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAATGAGCTCTGTGGAGACC	0.512																																						ENST00000490551.3																			0				cervix(1)|endometrium(1)	2						c.(109-111)Gag>Aag									79.0	79.0	79.0					1																	45965085		1945	4155	6100	SO:0001631	upstream_gene_variant	0							g.chr1:45965085C>T		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742		1.37:g.45965085C>T	Exception_encountered					CCDC163P_ENST00000432082.1_Missense_Mutation_p.E37K|CCDC163P_ENST00000488405.2_Missense_Mutation_p.E37K	p.E37K							2	473	-								Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.109G>A	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	c	17.34	3.364267	0.61513	.	.	ENSG00000236624	ENST00000490551;ENST00000432082;ENST00000488405	.	.	.	0.56	-1.12	0.09808	.	.	.	.	.	T	0.20901	0.0503	.	.	.	0.09310	N	1	B;B	0.31968	0.0;0.349	B;B	0.23018	0.0;0.043	T	0.12889	-1.0530	6	0.62326	D	0.03	.	.	.	.	.	37;37	E9PLD6;F2Z3K3	.;.	K	37	.	ENSP00000431736:E37K	E	-	1	0	CCDC163P	45737672	0.000000	0.05858	0.028000	0.17463	0.806000	0.45545	-0.652000	0.05366	-0.353000	0.08224	0.064000	0.15345	GAG		0.512	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		8	80	0	0	0	1	0	8	80				
C20orf96	140680	broad.mit.edu	37	20	264666	264666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:264666C>A	ENST00000360321.2	-	4	382	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*|C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	82										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTATGTAGTTCTCTTGGATTC	0.537																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(244-246)Gaa>Taa		chromosome 20 open reading frame 96							207.0	170.0	182.0					20																	264666		2203	4300	6503	SO:0001587	stop_gained	140680							g.chr20:264666C>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.244G>T	20.37:g.264666C>A	ENSP00000353470:p.Glu82*					C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*|C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*	p.E82*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		4	382	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	82					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Nonsense_Mutation	SNP	ENST00000360321.2	37	c.244G>T	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217647	0.58560	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	.	.	.	3.54	3.54	0.40534	.	0.677352	0.12134	N	0.496481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-1.2996	10.8705	0.46881	0.0:1.0:0.0:0.0	.	.	.	.	X	47;82;24	.	ENSP00000353470:E82X	E	-	1	0	C20orf96	212666	0.001000	0.12720	0.010000	0.14722	0.098000	0.18820	0.856000	0.27818	2.282000	0.76494	0.561000	0.74099	GAA		0.537	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		13	322	1	0	1.52009e-12	1	1.63397e-12	13	322				
BAZ2B	29994	broad.mit.edu	37	2	160304770	160304770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160304770C>T	ENST00000392783.2	-	5	980	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R162Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R160Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	162	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGGACCATTTCGATTACTTTT	0.353																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(484-486)cGa>cAa		bromodomain adjacent to zinc finger domain, 2B							115.0	107.0	109.0					2																	160304770		1850	4092	5942	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160304770C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.485G>A	2.37:g.160304770C>T	ENSP00000376534:p.Arg162Gln					BAZ2B_ENST00000392782.1_Missense_Mutation_p.R160Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R162Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q	p.R162Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			5	980	-			162			Ser-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.485G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735337	0.69189	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.68	5.68	0.88126	.	0.000000	0.27289	U	0.020046	T	0.29423	0.0733	L	0.48362	1.52	0.37592	D	0.920207	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.998;0.997	D;D;D;D;D;D	0.83275	0.975;0.996;0.975;0.986;0.986;0.968	T	0.01045	-1.1470	10	0.44086	T	0.13	-6.2343	19.7803	0.96413	0.0:1.0:0.0:0.0	.	160;99;162;160;160;162	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Q	160;162;162;160;99	ENSP00000376533:R160Q;ENSP00000376534:R162Q;ENSP00000348087:R162Q;ENSP00000339670:R160Q	ENSP00000339670:R160Q	R	-	2	0	BAZ2B	160013016	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.437000	0.52863	2.686000	0.91538	0.555000	0.69702	CGA		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			13	345	0	0	0	1	0	13	345				
MAGEB6	158809	broad.mit.edu	37	X	26212833	26212833	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212833G>A	ENST00000379034.1	+	2	1019	c.870G>A	c.(868-870)tcG>tcA	p.S290S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	290	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCTGATGTCGCTCCTGGTTG	0.547																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(868-870)tcG>tcA		melanoma antigen family B, 6							160.0	150.0	153.0					X																	26212833		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212833G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.870G>A	X.37:g.26212833G>A							p.S290S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1019	+			290			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.870G>A	CCDS14217.1																																																																																				0.547	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		194	628	0	0	0	1	0	194	628				
IL1RAPL2	26280	broad.mit.edu	37	X	104440202	104440202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104440202C>T	ENST00000372582.1	+	3	884	c.128C>T	c.(127-129)gCt>gTt	p.A43V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	43	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACATACATGGCTTTGGCAGGT	0.458																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(127-129)gCt>gTt		interleukin 1 receptor accessory protein-like 2							179.0	142.0	155.0					X																	104440202		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104440202C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.128C>T	X.37:g.104440202C>T	ENSP00000361663:p.Ala43Val					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	p.A43V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			3	884	+			43			Ig-like C2-type 1.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.128C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.242091	0.10077	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.73789	-0.78;-0.78	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000030	T	0.37156	0.0993	N	0.00332	-1.63	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.53781	-0.8390	10	0.02654	T	1	.	13.2374	0.59976	0.0:0.8453:0.1547:0.0	.	43	Q9NP60	IRPL2_HUMAN	V	43	ENSP00000361663:A43V;ENSP00000344976:A43V	ENSP00000344976:A43V	A	+	2	0	IL1RAPL2	104326858	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.439000	0.59968	2.350000	0.79820	0.600000	0.82982	GCT		0.458	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		47	372	0	0	0	1	0	47	372				
ASIC5	51802	broad.mit.edu	37	4	156759990	156759990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156759990G>T	ENST00000537611.2	-	7	1087	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	347					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CACAGCTGAAGTACTTTTGTA	0.269																																						ENST00000537611.2																			0											c.(1039-1041)taC>taA		acid-sensing (proton-gated) ion channel family member 5							73.0	73.0	73.0					4																	156759990		2203	4296	6499	SO:0001587	stop_gained	51802					integral to membrane|plasma membrane		g.chr4:156759990G>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1041C>A	4.37:g.156759990G>T	ENSP00000442477:p.Tyr347*						p.Y347*	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			7	1087	-			347						Nonsense_Mutation	SNP	ENST00000537611.2	37	c.1041C>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493945	0.44352	.	.	ENSG00000256394	ENST00000537611	.	.	.	3.89	2.85	0.33270	.	0.763256	0.11072	U	0.602743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3212	0.15881	0.8159:0.0:0.1841:0.0	.	.	.	.	X	347	.	ENSP00000264432:Y347X	Y	-	3	2	ACCN5	156979440	0.997000	0.39634	0.996000	0.52242	0.011000	0.07611	1.395000	0.34520	0.753000	0.32945	0.305000	0.20034	TAC		0.269	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			13	68	1	0	2.23348e-06	1	2.30073e-06	13	68				
TRPC6	7225	broad.mit.edu	37	11	101374763	101374763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101374763C>T	ENST00000344327.3	-	2	1361	c.937G>A	c.(937-939)Gag>Aag	p.E313K	TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.E313K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	313					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTTGAACTCTTTCTCAATA	0.473																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(937-939)Gag>Aag		transient receptor potential cation channel, subfamily C, member 6							136.0	127.0	130.0					11																	101374763		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101374763C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.937G>A	11.37:g.101374763C>T	ENSP00000340913:p.Glu313Lys					TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E313K	p.E313K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	1361	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	313					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.937G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036539	0.93630	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.7	5.7	0.88788	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.90595	3.13	0.80722	D	1	D;D;D	0.55385	0.964;0.961;0.971	P;D;P	0.63381	0.742;0.914;0.832	D	0.95753	0.8793	10	0.87932	D	0	-0.7207	19.8405	0.96681	0.0:1.0:0.0:0.0	.	313;313;313	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	K	313	ENSP00000340913:E313K;ENSP00000435574:E313K;ENSP00000343672:E313K;ENSP00000353687:E313K	ENSP00000340913:E313K	E	-	1	0	TRPC6	100879973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	GAG		0.473	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		116	546	0	0	0	1	0	116	546				
PHLPP1	23239	broad.mit.edu	37	18	60642662	60642662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60642662G>A	ENST00000262719.5	+	16	4022	c.3788G>A	c.(3787-3789)gGt>gAt	p.G1263D	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G751D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1263	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AAGCTTGGTGGTGCCGCTGTC	0.517																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2251-2253)gGt>gAt		PH domain and leucine rich repeat protein phosphatase 1							141.0	137.0	138.0					18																	60642662		2041	4183	6224	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60642662G>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3788G>A	18.37:g.60642662G>A	ENSP00000262719:p.Gly1263Asp					PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1263D	p.G751D	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			16	4033	+			1263					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.2252G>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352950	0.82132	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.09630	2.96;2.96	5.28	5.28	0.74379	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.29716	0.0742	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00270	-1.1860	9	0.30854	T	0.27	-13.5906	19.1036	0.93283	0.0:0.0:1.0:0.0	.	1263	O60346	PHLP1_HUMAN	D	751;1263	ENSP00000383170:G751D;ENSP00000262719:G1263D	ENSP00000262719:G1263D	G	+	2	0	PHLPP1	58793642	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.244000	0.65400	2.751000	0.94390	0.555000	0.69702	GGT		0.517	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		72	420	0	0	0	1	0	72	420				
DST	667	broad.mit.edu	37	6	56468647	56468647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56468647G>T	ENST00000361203.3	-	36	10153	c.10146C>A	c.(10144-10146)agC>agA	p.S3382R	DST_ENST00000446842.2_Missense_Mutation_p.S3056R|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S3382R|DST_ENST00000370769.4_Missense_Mutation_p.S3382R|DST_ENST00000370754.5_Missense_Mutation_p.S3560R			Q03001	DYST_HUMAN	dystonin	3382					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTCGGTTGAGCTATCTCCAG	0.383																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(10678-10680)agC>agA		dystonin							61.0	58.0	59.0					6																	56468647		1865	4103	5968	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56468647G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10146C>A	6.37:g.56468647G>T	ENSP00000354508:p.Ser3382Arg					DST_ENST00000370769.4_Missense_Mutation_p.S3382R|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S3382R|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S3382R|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S3056R	p.S3560R			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	10679	-	Lung NSC(77;0.103)		3382					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.10680C>A		.	.	.	.	.	.	.	.	.	.	G	10.86	1.469648	0.26423	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81739	-0.05;-0.05;0.9;-1.53;-0.08;-0.59	5.63	1.12	0.20585	.	0.727216	0.12485	N	0.464726	T	0.38321	0.1036	.	.	.	0.34183	D	0.671197	B	0.12630	0.006	B	0.10450	0.005	T	0.02574	-1.1139	8	0.10636	T	0.68	.	5.8097	0.18460	0.3137:0.1434:0.5429:0.0	.	3056	Q03001-9	.	R	3560;3382;3056;3382;3382;3056	ENSP00000359790:S3560R;ENSP00000359805:S3382R;ENSP00000393645:S3056R;ENSP00000307959:S3382R;ENSP00000354508:S3382R;ENSP00000404924:S3056R	ENSP00000307959:S3382R	S	-	3	2	DST	56576606	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.001000	0.12947	0.278000	0.22164	0.655000	0.94253	AGC		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		16	95	1	0	1.15088e-07	1	1.19614e-07	16	95				
PIK3CD	5293	broad.mit.edu	37	1	9780047	9780047	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780047C>T	ENST00000377346.4	+	10	1506	c.1311C>T	c.(1309-1311)cgC>cgT	p.R437R	PIK3CD_ENST00000536656.1_Silent_p.R402R|PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000543390.1_Silent_p.R104R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	437	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCGGGGAACGCTGCCTCTACA	0.622																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1204-1206)cgC>cgT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							138.0	125.0	130.0					1																	9780047		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9780047C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1311C>T	1.37:g.9780047C>T						PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000543390.1_Silent_p.R104R|PIK3CD_ENST00000377346.4_Silent_p.R437R	p.R402R			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	10	1414	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	437					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1206C>T	CCDS104.1																																																																																				0.622	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		156	706	0	0	0	1	0	156	706				
SH2D4B	387694	broad.mit.edu	37	10	82331321	82331321	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:82331321A>C	ENST00000470604.2	+	3	479	c.479A>C	c.(478-480)cAc>cCc	p.H160P	SH2D4B_ENST00000339284.2_Missense_Mutation_p.H161P|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H112P			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	160	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAACGCATCCACGAGGAATTC	0.592																																						ENST00000339284.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13						c.(481-483)cAc>cCc		SH2 domain containing 4B							66.0	63.0	64.0					10																	82331321		2203	4300	6503	SO:0001583	missense	387694							g.chr10:82331321A>C		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.479A>C	10.37:g.82331321A>C	ENSP00000417953:p.His160Pro					SH2D4B_ENST00000470604.2_Missense_Mutation_p.H160P|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H112P	p.H161P	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		3	912	+			160			Glu-rich.		Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37	c.482A>C		.	.	.	.	.	.	.	.	.	.	A	4.671	0.124666	0.08931	.	.	ENSG00000178217	ENST00000339284;ENST00000372147;ENST00000470604;ENST00000313455	T;T;T	0.11495	2.77;2.77;2.77	5.64	2.0	0.26442	.	0.550749	0.17151	N	0.185041	T	0.05868	0.0153	N	0.11427	0.14	0.09310	N	0.999999	B;D	0.53151	0.209;0.958	B;P	0.44990	0.081;0.466	T	0.33163	-0.9879	10	0.29301	T	0.29	-14.738	5.6807	0.17774	0.702:0.1438:0.1542:0.0	.	112;161	Q5SQS7-3;Q5SQS7-2	.;.	P	161;160;160;112	ENSP00000345295:H161P;ENSP00000417953:H160P;ENSP00000314242:H112P	ENSP00000314242:H112P	H	+	2	0	SH2D4B	82321301	0.984000	0.35163	0.127000	0.21898	0.417000	0.31264	3.202000	0.51067	0.094000	0.17404	0.459000	0.35465	CAC		0.592	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		7	285	0	0	0	1	0	7	285				
ATE1	11101	broad.mit.edu	37	10	123661906	123661906	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123661906C>A	ENST00000224652.6	-	6	898	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ATE1_ENST00000369043.3_Splice_Site_p.E271D|ATE1_ENST00000540606.1_Splice_Site_p.E264D|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369040.3_Splice_Site_p.E175D|ATE1_ENST00000543447.1_Splice_Site_p.E156D	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	271					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCCAAAGTACCTCTAACTTGT	0.323																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e6+1		arginyltransferase 1							76.0	79.0	78.0					10																	123661906		2203	4300	6503	SO:0001630	splice_region_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123661906C>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.813+1G>T	10.37:g.123661906C>A						ATE1_ENST00000369040.3_Splice_Site_p.E175_splice|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Splice_Site_p.E264_splice|ATE1_ENST00000224652.6_Splice_Site_p.E271_splice|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Splice_Site_p.E156_splice	p.E271_splice	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			6	899	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	271					O95261|Q5SQQ3|Q8WW04	Splice_Site	SNP	ENST00000224652.6	37	c.813_splice	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.140442|5.140442	0.94560|0.94560	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.89917|.	0.89;0.944;0.98;1.0|.	P;P;P;D|.	0.76071|.	0.607;0.766;0.806;0.987|.	T|T	0.78099|0.78099	-0.2336|-0.2336	8|5	.|.	.|.	.|.	-21.7068|-21.7068	18.9376|18.9376	0.92592|0.92592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;175;271;271|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|C	271;271;175;264;156|268	.|.	.|.	E|G	-|-	3|1	2|0	ATE1|ATE1	123651896|123651896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.205000|7.205000	0.77881|0.77881	2.706000|2.706000	0.92434|0.92434	0.557000|0.557000	0.71058|0.71058	GAG|GGT		0.323	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	Missense_Mutation	60	284	1	0	1.00798e-23	1	1.14783e-23	60	284				
ZNF213	7760	broad.mit.edu	37	16	3187397	3187397	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3187397G>T	ENST00000396878.3	+	2	591	c.116G>T	c.(115-117)aGg>aTg	p.R39M	RP11-473M20.14_ENST00000575089.1_RNA|RP11-473M20.14_ENST00000576590.1_RNA|ZNF213_ENST00000416391.2_5'Flank|RP11-473M20.14_ENST00000571449.1_RNA|ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M|ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M|RP11-473M20.14_ENST00000571963.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	39					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GAGGATGGCAGGGATTCCGAA	0.622																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(115-117)aGg>aTg		zinc finger protein 213							39.0	41.0	40.0					16																	3187397		2197	4298	6495	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3187397G>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.116G>T	16.37:g.3187397G>T	ENSP00000380087:p.Arg39Met					ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M|ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M	p.R39M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			2	591	+			39					A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.116G>T	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	5.818	0.335251	0.11013	.	.	ENSG00000085644	ENST00000396878	T	0.05717	3.4	5.12	1.98	0.26296	Retrovirus capsid, C-terminal (1);	0.760921	0.11583	N	0.549599	T	0.10380	0.0254	L	0.43152	1.355	0.09310	N	1	P	0.52577	0.954	P	0.52109	0.69	T	0.21930	-1.0231	10	0.66056	D	0.02	.	6.7552	0.23510	0.189:0.184:0.627:0.0	.	39	O14771	ZN213_HUMAN	M	39	ENSP00000380087:R39M	ENSP00000380087:R39M	R	+	2	0	ZNF213	3127398	0.000000	0.05858	0.350000	0.25708	0.663000	0.39108	0.087000	0.14958	0.581000	0.29539	-0.140000	0.14226	AGG		0.622	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		60	296	1	0	1.07751e-37	1	1.29517e-37	60	296				
ROBO3	64221	broad.mit.edu	37	11	124742317	124742317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742317G>A	ENST00000397801.1	+	8	1391	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	400	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCGACGGGGCGCTTCTCAGTG	0.612																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1198-1200)cGc>cAc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							73.0	75.0	74.0					11																	124742317		2050	4198	6248	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742317G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1199G>A	11.37:g.124742317G>A	ENSP00000380903:p.Arg400His					ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	p.R400H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	8	1391	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	400			Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1199G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643303	0.87859	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.79653	-1.29;-1.29	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000777	D	0.89252	0.6662	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88843	0.3314	10	0.54805	T	0.06	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	400	Q96MS0	ROBO3_HUMAN	H	400;378	ENSP00000380903:R400H;ENSP00000441797:R378H	ENSP00000380903:R400H	R	+	2	0	ROBO3	124247527	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	5.583000	0.67484	2.695000	0.91970	0.655000	0.94253	CGC		0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		75	255	0	0	0	1	0	75	255				
SCN7A	6332	broad.mit.edu	37	2	167288898	167288898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167288898C>T	ENST00000409855.1	-	15	2648	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	841					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATCAGATTCTCCTGAAGCAAT	0.398																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2521-2523)gGa>gAa		sodium channel, voltage-gated, type VII, alpha subunit							119.0	117.0	118.0					2																	167288898		1903	4102	6005	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167288898C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2522G>A	2.37:g.167288898C>T	ENSP00000386796:p.Gly841Glu						p.G841E	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			15	2648	-			841						Missense_Mutation	SNP	ENST00000409855.1	37	c.2522G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897290	0.33535	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.84146	-1.81;-1.81	5.05	3.13	0.36017	Sodium ion transport-associated (1);	0.249150	0.28624	N	0.014686	T	0.78916	0.4359	L	0.49350	1.555	0.37374	D	0.911766	B	0.24258	0.1	B	0.26202	0.067	T	0.75841	-0.3175	10	0.35671	T	0.21	.	7.6994	0.28613	0.0:0.7388:0.1651:0.0961	.	841	Q01118	SCN7A_HUMAN	E	841	ENSP00000386796:G841E;ENSP00000413699:G841E	ENSP00000259060:G841E	G	-	2	0	SCN7A	166997144	0.071000	0.21146	1.000000	0.80357	0.946000	0.59487	0.996000	0.29719	1.328000	0.45358	0.561000	0.74099	GGA		0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			114	452	0	0	0	1	0	114	452				
AVIL	10677	broad.mit.edu	37	12	58203397	58203397	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58203397C>A	ENST00000257861.3	-	8	1352	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	AVIL_ENST00000537081.1_Missense_Mutation_p.A301S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	308	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTAGACATGGCTGCCTGTTTT	0.473																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(901-903)Gcc>Tcc		advillin							165.0	145.0	152.0					12																	58203397		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58203397C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.922G>T	12.37:g.58203397C>A	ENSP00000257861:p.Ala308Ser					AVIL_ENST00000257861.3_Missense_Mutation_p.A308S	p.A301S			O75366	AVIL_HUMAN			8	900	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		308			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.901G>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045982	0.93685	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.59638	0.25;0.25	4.75	4.75	0.60458	Gelsolin domain (1);	0.104999	0.64402	D	0.000005	T	0.71745	0.3376	M	0.74467	2.265	0.80722	D	1	P;P	0.50819	0.939;0.903	P;P	0.55999	0.721;0.789	T	0.75941	-0.3140	10	0.72032	D	0.01	-13.5395	17.0043	0.86388	0.0:1.0:0.0:0.0	.	301;308	O75366-2;O75366	.;AVIL_HUMAN	S	301;308	ENSP00000443207:A301S;ENSP00000257861:A308S	ENSP00000257861:A308S	A	-	1	0	AVIL	56489664	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.512000	0.81728	2.619000	0.88677	0.655000	0.94253	GCC		0.473	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		79	307	1	0	4.41824e-40	1	5.35239e-40	79	307				
SMPX	23676	broad.mit.edu	37	X	21755811	21755811	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21755811A>G	ENST00000379494.3	-	4	370	c.137T>C	c.(136-138)gTt>gCt	p.V46A	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	46					striated muscle contraction (GO:0006941)	costamere (GO:0043034)|M band (GO:0031430)|muscle tendon junction (GO:0005927)|nucleus (GO:0005634)				breast(1)|endometrium(1)	2						GGTGGGAGGAACACCCTGAAG	0.408																																						ENST00000379494.3																			0				breast(1)|endometrium(1)	2						c.(136-138)gTt>gCt		small muscle protein, X-linked							83.0	74.0	77.0					X																	21755811		2203	4300	6503	SO:0001583	missense	23676				striated muscle contraction			g.chrX:21755811A>G		CCDS14200.1	Xp22.2-p22.1	2014-01-28			ENSG00000091482	ENSG00000091482			11122	protein-coding gene	gene with protein product		300226	"""deafness, X-linked 6, sensorineural"""	DFN6		21893181	Standard	NM_014332		Approved	DFNX4	uc004daa.3	Q9UHP9	OTTHUMG00000021235	ENST00000379494.3:c.137T>C	X.37:g.21755811A>G	ENSP00000368808:p.Val46Ala					SMPX_ENST00000494525.1_5'UTR	p.V46A	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN			4	370	-			46					B1AWX2	Missense_Mutation	SNP	ENST00000379494.3	37	c.137T>C	CCDS14200.1	.	.	.	.	.	.	.	.	.	.	A	5.414	0.261572	0.10239	.	.	ENSG00000091482	ENST00000379494	.	.	.	6.11	0.0316	0.14171	.	0.883982	0.10193	N	0.704369	T	0.21509	0.0518	.	.	.	0.25343	N	0.988934	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	8	0.09338	T	0.73	-3.5021	10.4529	0.44533	0.5545:0.0:0.4455:0.0	.	46	Q9UHP9	SMPX_HUMAN	A	46	.	ENSP00000368808:V46A	V	-	2	0	SMPX	21665732	0.000000	0.05858	0.992000	0.48379	0.887000	0.51463	-1.951000	0.01529	0.005000	0.14708	-0.287000	0.09952	GTT		0.408	SMPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056023.1	NM_014332		23	252	0	0	0	1	0	23	252				
PDGFRB	5159	broad.mit.edu	37	5	149500528	149500528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149500528C>A	ENST00000261799.4	-	18	2978	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGCTTGCCTTCACAGATG	0.582			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2509-2511)Ggc>Tgc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						158.0	134.0	142.0					5																	149500528		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149500528C>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2509G>T	5.37:g.149500528C>A	ENSP00000261799:p.Gly837Cys						p.G837C	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	2978	-		all_hematologic(541;0.224)	837			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2509G>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348081	0.95807	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.89617	-2.54	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.274240	0.25025	N	0.033728	D	0.93963	0.8067	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94467	0.7681	10	0.87932	D	0	.	18.746	0.91792	0.0:1.0:0.0:0.0	.	837;837	A8KAM8;P09619	.;PGFRB_HUMAN	C	837;507	ENSP00000261799:G837C	ENSP00000261799:G837C	G	-	1	0	PDGFRB	149480721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.086000	0.71352	2.504000	0.84457	0.655000	0.94253	GGC		0.582	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		74	299	1	0	1.32218e-49	1	1.6358e-49	74	299				
NLRP10	338322	broad.mit.edu	37	11	7981244	7981244	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981244A>G	ENST00000328600.2	-	2	2076	c.1915T>C	c.(1915-1917)Tct>Cct	p.S639P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	639					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTCCAGTAGAAGCTTCCTTT	0.393																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1915-1917)Tct>Cct		NLR family, pyrin domain containing 10							110.0	101.0	104.0					11																	7981244		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981244A>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1915T>C	11.37:g.7981244A>G	ENSP00000327763:p.Ser639Pro						p.S639P	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	2076	-			639					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1915T>C	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	7.079	0.569889	0.13560	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	3.06	-0.651	0.11454	.	0.639490	0.12224	N	0.488049	T	0.64125	0.2570	L	0.29908	0.895	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.50215	-0.8854	10	0.41790	T	0.15	.	3.156	0.06504	0.5467:0.2216:0.2317:0.0	.	639	Q86W26	NAL10_HUMAN	P	639	ENSP00000327763:S639P	ENSP00000327763:S639P	S	-	1	0	NLRP10	7937820	0.006000	0.16342	0.000000	0.03702	0.048000	0.14542	0.503000	0.22610	-0.136000	0.11475	0.460000	0.39030	TCT		0.393	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		10	296	0	0	0	1	0	10	296				
HSFY1P1	27437	broad.mit.edu	37	22	17309850	17309850	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17309850G>A	ENST00000425038.1	+	0	1006					NR_003607.1				heat shock transcription factor, Y-linked 1 pseudogene 1																		AAATGGCCACGTTGTGAATTT	0.373																																						ENST00000425038.1																			0																																																			0							g.chr22:17309850G>A	AY026053		22q11.2	2010-08-04	2010-08-04	2010-08-04	ENSG00000229027	ENSG00000229027			1846	pseudogene	pseudogene			"""cat eye syndrome chromosome region, candidate 8"", ""cat eye syndrome chromosome region, candidate 8 (non-protein coding)"""	CECR8		11381032	Standard	NR_003607		Approved	HSFYP1, HSFYL1	uc010gqr.1		OTTHUMG00000143727		22.37:g.17309850G>A								NR_003607.1						0	1006	+									RNA	SNP	ENST00000425038.1	37																																																																																						0.373	HSFY1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000289790.2	NR_003607		19	62	0	0	0	1	0	19	62				
CDH5	1003	broad.mit.edu	37	16	66431887	66431887	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66431887A>G	ENST00000341529.3	+	9	1511	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCCTGCAGGAACCCCCACAGG	0.542																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1363-1365)Acc>Gcc		cadherin 5, type 2 (vascular endothelium)							101.0	100.0	100.0					16																	66431887		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66431887A>G	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1363A>G	16.37:g.66431887A>G	ENSP00000344115:p.Thr455Ala					CDH5_ENST00000539168.1_5'UTR	p.T455A	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1511	+		Ovarian(137;0.0955)	455			Cadherin 4.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1363A>G	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	5.119	0.207528	0.09704	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.49720	0.77	4.4	0.705	0.18127	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20170	0.0485	N	0.08118	0	0.22389	N	0.999149	B	0.11235	0.004	B	0.17979	0.02	T	0.21314	-1.0249	9	0.15066	T	0.55	.	0.9773	0.01428	0.3435:0.2616:0.0919:0.303	.	455	P33151	CADH5_HUMAN	A	455;196	ENSP00000344115:T455A	ENSP00000344115:T455A	T	+	1	0	CDH5	64989388	0.001000	0.12720	0.013000	0.15412	0.396000	0.30629	1.223000	0.32527	-0.077000	0.12752	0.459000	0.35465	ACC		0.542	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		79	436	0	0	0	1	0	79	436				
DST	667	broad.mit.edu	37	6	56494123	56494123	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56494123T>G	ENST00000361203.3	-	28	3774	c.3767A>C	c.(3766-3768)gAt>gCt	p.D1256A	DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A|DST_ENST00000370769.4_Missense_Mutation_p.D1256A|DST_ENST00000370754.5_Missense_Mutation_p.D1434A|DST_ENST00000518935.1_Missense_Mutation_p.D930A			Q03001	DYST_HUMAN	dystonin	1256					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAGTCAAAATCAAGGTCCCG	0.373																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4300-4302)gAt>gCt		dystonin							268.0	226.0	240.0					6																	56494123		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56494123T>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3767A>C	6.37:g.56494123T>G	ENSP00000354508:p.Asp1256Ala					DST_ENST00000370769.4_Missense_Mutation_p.D1256A|DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000361203.3_Missense_Mutation_p.D1256A|DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000518935.1_Missense_Mutation_p.D930A	p.D1434A			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	4300	-	Lung NSC(77;0.103)		1256					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4301A>C		.	.	.	.	.	.	.	.	.	.	T	27.8	4.868477	0.91587	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000029	T	0.53562	0.1804	M	0.74258	2.255	0.30255	N	0.793703	D;D;D;D;D;D;D;D	0.89917	0.997;0.996;0.997;0.999;0.999;1.0;0.997;0.999	P;P;P;D;D;D;P;D	0.80764	0.895;0.837;0.895;0.971;0.978;0.994;0.895;0.966	T	0.60419	-0.7267	9	0.72032	D	0.01	.	16.1678	0.81782	0.0:0.0:0.0:1.0	.	1256;1256;1434;930;930;930;1256;930	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	A	930;1434;1256;1256;930;1256;1256;1256;930;1296;930;930	ENSP00000244364:D930A;ENSP00000359790:D1434A;ENSP00000359805:D1256A;ENSP00000400883:D1256A;ENSP00000393645:D930A;ENSP00000307959:D1256A;ENSP00000359824:D1256A;ENSP00000354508:D1256A;ENSP00000404924:D930A;ENSP00000431030:D1296A;ENSP00000359801:D930A;ENSP00000431003:D930A	ENSP00000244364:D930A	D	-	2	0	DST	56602082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	GAT		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		90	448	0	0	0	1	0	90	448				
CALHM2	51063	broad.mit.edu	37	10	105206962	105206962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105206962C>T	ENST00000260743.5	-	4	1442	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	307					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTTGCCTGCCAGACCCTGG	0.617																																						ENST00000260743.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(919-921)Gca>Aca		calcium homeostasis modulator 2							53.0	49.0	50.0					10																	105206962		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105206962C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.919G>A	10.37:g.105206962C>T	ENSP00000260743:p.Ala307Thr					CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T	p.A307T	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN			4	1442	-			307					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.919G>A	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723844	0.48728	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17054	2.3;2.3	5.52	-1.14	0.09741	.	1.268130	0.05081	N	0.483424	T	0.09291	0.0229	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36625	-0.9740	10	0.14656	T	0.56	0.0966	7.019	0.24904	0.0:0.3498:0.1218:0.5285	.	307	Q9HA72	CAHM2_HUMAN	T	307	ENSP00000358803:A307T;ENSP00000260743:A307T	ENSP00000260743:A307T	A	-	1	0	CALHM2	105196952	0.000000	0.05858	0.018000	0.16275	0.710000	0.40934	-0.403000	0.07214	-0.220000	0.09988	0.561000	0.74099	GCA		0.617	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		78	281	0	0	0	1	0	78	281				
KIZ-AS1	101929591	broad.mit.edu	37	20	21142621	21142621	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142621A>G	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AGCATGAGAGATTTCAGTACA	0.473																																						ENST00000591761.1																			0																				78.0	75.0	76.0					20																	21142621		1926	4123	6049			0							g.chr20:21142621A>G																													20.37:g.21142621A>G						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.473	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			50	224	0	0	0	1	0	50	224				
NOV	4856	broad.mit.edu	37	8	120435115	120435115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120435115G>A	ENST00000259526.3	+	5	1044	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GTCACTCAAAGCCATCCACCT	0.488																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(817-819)Gcc>Acc		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						76.0	77.0	77.0					8																	120435115		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120435115G>A	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.817G>A	8.37:g.120435115G>A	ENSP00000259526:p.Ala273Thr					RP11-775B15.2_ENST00000519786.1_RNA	p.A273T	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		5	1044	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		273			CTCK.			Missense_Mutation	SNP	ENST00000259526.3	37	c.817G>A	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322686	0.60634	.	.	ENSG00000136999	ENST00000259526	D	0.89343	-2.5	5.91	4.06	0.47325	Cystine knot (1);Cystine knot, C-terminal (2);	0.159685	0.56097	D	0.000033	D	0.91297	0.7256	M	0.78637	2.42	0.38106	D	0.937413	P	0.46859	0.885	P	0.51324	0.666	D	0.91883	0.5517	10	0.87932	D	0	-21.4507	10.9553	0.47354	0.0:0.1261:0.6124:0.2615	.	273	P48745	NOV_HUMAN	T	273	ENSP00000259526:A273T	ENSP00000259526:A273T	A	+	1	0	NOV	120504296	0.815000	0.29118	0.982000	0.44146	0.382000	0.30200	0.780000	0.26760	0.770000	0.33336	0.650000	0.86243	GCC		0.488	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		92	486	0	0	0	1	0	92	486				
DPYSL4	10570	broad.mit.edu	37	10	134010555	134010555	+	Missense_Mutation	SNP	C	C	A	rs202122121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134010555C>A	ENST00000338492.4	+	6	735	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	DPYSL4_ENST00000368627.1_Missense_Mutation_p.L114M|DPYSL4_ENST00000368629.1_Missense_Mutation_p.L114M	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	191					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CATCCGGGACCTGGGGGCCTT	0.682																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(571-573)Ctg>Atg		dihydropyrimidinase-like 4							31.0	30.0	30.0					10																	134010555		2192	4295	6487	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134010555C>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.571C>A	10.37:g.134010555C>A	ENSP00000339850:p.Leu191Met					DPYSL4_ENST00000368629.1_Missense_Mutation_p.L114M|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L114M	p.L191M	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	6	735	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	191					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.571C>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932821	0.73442	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90676	-2.71;-2.56;-2.56	4.5	4.5	0.54988	Amidohydrolase 1 (1);	0.000000	0.64402	D	0.000001	D	0.95799	0.8633	M	0.87381	2.88	0.44123	D	0.996904	D	0.89917	1.0	D	0.97110	1.0	D	0.96535	0.9396	10	0.72032	D	0.01	-9.8789	17.0322	0.86464	0.0:1.0:0.0:0.0	.	191	O14531	DPYL4_HUMAN	M	191;114;114	ENSP00000339850:L191M;ENSP00000357618:L114M;ENSP00000357616:L114M	ENSP00000339850:L191M	L	+	1	2	DPYSL4	133860545	0.404000	0.25328	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	2.352000	0.79861	0.585000	0.79938	CTG		0.682	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			19	74	1	0	6.49762e-13	1	6.99513e-13	19	74				
DENND5A	23258	broad.mit.edu	37	11	9164309	9164309	+	Silent	SNP	C	C	T	rs145302750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9164309C>T	ENST00000328194.3	-	21	3791	c.3471G>A	c.(3469-3471)tcG>tcA	p.S1157S	DENND5A_ENST00000527700.1_Silent_p.S500S|DENND5A_ENST00000530044.1_Silent_p.S1157S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1157	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAGCCGGGGCGATTTAAATC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20045	0.0		0.0	False		,,,				2504	0.0					ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3469-3471)tcG>tcA		DENN/MADD domain containing 5A		C		0,4402		0,0,2201	113.0	125.0	121.0		3471	-11.5	0.7	11	dbSNP_134	121	4,8588	3.7+/-12.6	0,4,4292	no	coding-synonymous	DENND5A	NM_015213.3		0,4,6493	TT,TC,CC		0.0466,0.0,0.0308		1157/1288	9164309	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9164309C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3471G>A	11.37:g.9164309C>T						DENND5A_ENST00000530044.1_Silent_p.S1157S|DENND5A_ENST00000527700.1_Silent_p.S500S	p.S1157S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			21	3791	-			1157			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.3471G>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102341	0.20632	0.0	4.66E-4	ENSG00000184014	ENST00000528725;ENST00000533737	.	.	.	5.8	-11.5	0.00074	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46345	-0.9198	4	.	.	.	.	4.4113	0.11434	0.1371:0.3831:0.2786:0.2013	.	.	.	.	H	56;45	.	.	R	-	2	0	DENND5A	9120885	0.000000	0.05858	0.748000	0.31131	0.996000	0.88848	-2.145000	0.01295	-1.597000	0.01609	-0.238000	0.12139	CGC		0.512	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		162	740	0	0	0	1	0	162	740				
TMEM64	169200	broad.mit.edu	37	8	91657411	91657411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657411T>C	ENST00000458549.2	-	1	900	c.723A>G	c.(721-723)ggA>ggG	p.G241G	TMEM64_ENST00000418210.2_Silent_p.G241G|TMEM64_ENST00000519519.1_Intron|RP11-68L18.1_ENST00000519233.1_RNA|RP11-68L18.1_ENST00000501194.2_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	241					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCAGGCCGCTTCCTCCCTCCA	0.617											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000458549.2																			0				endometrium(1)|large_intestine(1)	2						c.(721-723)ggA>ggG		transmembrane protein 64							63.0	63.0	63.0					8																	91657411		2203	4300	6503	SO:0001819	synonymous_variant	169200					integral to membrane		g.chr8:91657411T>C	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.723A>G	8.37:g.91657411T>C			OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Silent_p.G241G	p.G241G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		1	900	-			241					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Silent	SNP	ENST00000458549.2	37	c.723A>G	CCDS34920.2																																																																																				0.617	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		62	267	0	0	0	1	0	62	267				
CDH5	1003	broad.mit.edu	37	16	66420804	66420804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66420804C>T	ENST00000341529.3	+	3	451	c.303C>T	c.(301-303)gaC>gaT	p.D101D	CDH5_ENST00000563425.2_Silent_p.D101D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGACAGGAGACGTGTTCGCCA	0.512																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(301-303)gaC>gaT		cadherin 5, type 2 (vascular endothelium)							99.0	85.0	90.0					16																	66420804		2202	4300	6502	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66420804C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.303C>T	16.37:g.66420804C>T						CDH5_ENST00000563425.2_Silent_p.D101D	p.D101D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	3	451	+		Ovarian(137;0.0955)	101			Cadherin 1.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.303C>T	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.366899	0.05069	.	.	ENSG00000179776	ENST00000539262	.	.	.	5.79	-6.06	0.02165	.	.	.	.	.	T	0.70245	0.3202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77161	-0.2689	5	0.87932	D	0	.	15.9692	0.79998	0.0:0.2583:0.0:0.7417	.	.	.	.	M	23	.	ENSP00000437691:T23M	T	+	2	0	CDH5	64978305	0.094000	0.21725	0.583000	0.28640	0.378000	0.30076	-0.609000	0.05635	-1.009000	0.03400	-0.137000	0.14449	ACG		0.512	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		28	157	0	0	0	1	0	28	157				
ZNF527	84503	broad.mit.edu	37	19	37880058	37880058	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37880058T>G	ENST00000436120.2	+	5	1214	c.1107T>G	c.(1105-1107)cgT>cgG	p.R369R	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTTAGCCGTTATGCCTTCC	0.438																																						ENST00000436120.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(1105-1107)cgT>cgG		zinc finger protein 527							64.0	69.0	67.0					19																	37880058		2199	4300	6499	SO:0001819	synonymous_variant	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880058T>G	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1107T>G	19.37:g.37880058T>G						ZNF527_ENST00000587349.1_Intron	p.R369R	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1214	+			369					B4DVL5	Silent	SNP	ENST00000436120.2	37	c.1107T>G	CCDS42559.1																																																																																				0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		54	260	0	0	0	1	0	54	260				
TMEM211	255349	broad.mit.edu	37	22	25331516	25331516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25331516G>A	ENST00000423535.1	-	3	386	c.387C>T	c.(385-387)gcC>gcT	p.A129A	TMEM211_ENST00000407886.1_Silent_p.A58A|TMEM211_ENST00000382744.1_Silent_p.A58A			Q6ICI0	TM211_HUMAN	transmembrane protein 211	129						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGAATGGGGAGGCAAGGCCGA	0.522																																						ENST00000407886.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(172-174)gcC>gcT		transmembrane protein 211							88.0	77.0	81.0					22																	25331516		2203	4300	6503	SO:0001819	synonymous_variant	255349					integral to membrane		g.chr22:25331516G>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.387C>T	22.37:g.25331516G>A						TMEM211_ENST00000423535.1_Silent_p.A129A|TMEM211_ENST00000382744.1_Silent_p.A58A	p.A58A			Q6ICI0	TM211_HUMAN			4	426	-			129						Silent	SNP	ENST00000423535.1	37	c.174C>T																																																																																					0.522	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		7	339	0	0	0	1	0	7	339				
CHAF1B	8208	broad.mit.edu	37	21	37763902	37763902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37763902G>A	ENST00000314103.5	+	4	464	c.313G>A	c.(313-315)Gct>Act	p.A105T	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	105					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGAGCAGATCGCTTTTCAGGA	0.517																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(313-315)Gct>Act		chromatin assembly factor 1, subunit B (p60)							116.0	100.0	105.0					21																	37763902		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37763902G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.313G>A	21.37:g.37763902G>A	ENSP00000315700:p.Ala105Thr					CHAF1B_ENST00000480486.1_3'UTR	p.A105T	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			4	464	+			105					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.313G>A	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932325	0.18131	.	.	ENSG00000159259	ENST00000314103	T	0.56275	0.47	5.18	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.481323	0.24363	N	0.039173	T	0.33585	0.0868	N	0.17764	0.52	0.22500	N	0.999043	B	0.10296	0.003	B	0.06405	0.002	T	0.14811	-1.0459	10	0.17832	T	0.49	-5.9072	9.6314	0.39782	0.0758:0.1408:0.7834:0.0	.	105	Q13112	CAF1B_HUMAN	T	105	ENSP00000315700:A105T	ENSP00000315700:A105T	A	+	1	0	CHAF1B	36685772	0.014000	0.17966	0.135000	0.22099	0.581000	0.36288	1.069000	0.30641	1.311000	0.45024	-0.126000	0.14955	GCT		0.517	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		22	162	0	0	0	1	0	22	162				
MUC5B	727897	broad.mit.edu	37	11	1266175	1266175	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1266175T>C	ENST00000529681.1	+	31	8123	c.8065T>C	c.(8065-8067)Tca>Cca	p.S2689P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S2692P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2689	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACTcccccatcactgaccac	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8074-8076)Tca>Cca		mucin 5B, oligomeric mucus/gel-forming							24.0	31.0	29.0					11																	1266175		1758	3906	5664	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266175T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8065T>C	11.37:g.1266175T>C	ENSP00000436812:p.Ser2689Pro					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S2689P	p.S2692P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8132	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2689	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8074T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.899145	0.00517	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.21031	2.03;2.22	2.0	-3.99	0.04069	.	.	.	.	.	T	0.10594	0.0259	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24764	-1.0151	9	0.87932	D	0	.	2.3821	0.04357	0.1005:0.338:0.2342:0.3273	.	2692	E9PBJ0	.	P	2689;2692;2661	ENSP00000436812:S2689P;ENSP00000415793:S2692P	ENSP00000343037:S2661P	S	+	1	0	MUC5B	1222751	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.299000	0.00257	-4.729000	0.00034	-3.193000	0.00055	TCA		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	38	0	0	0	1	0	5	38				
ITPR1	3708	broad.mit.edu	37	3	4852977	4852977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4852977C>T	ENST00000443694.2	+	53	7256	c.7256C>T	c.(7255-7257)aCt>aTt	p.T2419I	ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000354582.6_Missense_Mutation_p.T2419I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I|ITPR1_ENST00000302640.8_Missense_Mutation_p.T2419I|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2434					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGAGAAGAGACTTTGCTTAAT	0.388																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7255-7257)aCt>aTt		inositol 1,4,5-trisphosphate receptor, type 1							98.0	91.0	93.0					3																	4852977		1901	4135	6036	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4852977C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7256C>T	3.37:g.4852977C>T	ENSP00000401671:p.Thr2419Ile					ITPR1_ENST00000302640.8_Missense_Mutation_p.T2419I|ITPR1_ENST00000443694.2_Missense_Mutation_p.T2419I|ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I	p.T2419I			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	55	7606	+			2434					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7256C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003787	0.93287	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.38	5.38	0.77491	Ion transport (1);	0.099034	0.64402	D	0.000001	D	0.99165	0.9711	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99601	1.0978	10	0.51188	T	0.08	.	19.12	0.93358	0.0:1.0:0.0:0.0	.	397;2434;2386	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	I	2434;2419;2419;2386;880;2386;2371;397;2419	ENSP00000306253:T2419I;ENSP00000346595:T2419I;ENSP00000405934:T2386I;ENSP00000349597:T2386I;ENSP00000397885:T2371I;ENSP00000440564:T397I;ENSP00000401671:T2419I	ENSP00000306253:T2419I	T	+	2	0	ITPR1	4827977	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.724000	0.84798	2.509000	0.84616	0.563000	0.77884	ACT		0.388	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		30	136	0	0	0	1	0	30	136				
OBSCN	84033	broad.mit.edu	37	1	228494991	228494991	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228494991G>T	ENST00000422127.1	+	46	12269	c.12225G>T	c.(12223-12225)caG>caT	p.Q4075H	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q5032H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1709H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4075	Ig-like 42.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGGCTTCAGAGTCTGGAGC	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15094-15096)caG>caT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							57.0	67.0	64.0					1																	228494991		2083	4207	6290	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494991G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12225G>T	1.37:g.228494991G>T	ENSP00000409493:p.Gln4075His					OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q4075H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1709H	p.Q5032H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			57	15170	+		Prostate(94;0.0405)	4075					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15096G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560875	0.27827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.81	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.157695	0.41194	D	0.000931	T	0.60379	0.2264	L	0.61036	1.89	0.31867	N	0.620166	B;B	0.18461	0.028;0.002	B;B	0.18263	0.021;0.005	T	0.62393	-0.6864	10	0.37606	T	0.19	.	10.4175	0.44331	0.1334:0.0:0.7494:0.1172	.	4075;4075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	4075;4075;1709;1194	ENSP00000284548:Q4075H;ENSP00000409493:Q4075H;ENSP00000355668:Q1709H;ENSP00000355670:Q1194H	ENSP00000284548:Q4075H	Q	+	3	2	OBSCN	226561614	1.000000	0.71417	0.816000	0.32577	0.006000	0.05464	2.919000	0.48836	0.786000	0.33708	0.462000	0.41574	CAG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		10	422	1	0	4.68919e-08	1	4.88816e-08	10	422				
FARP1	10160	broad.mit.edu	37	13	99099020	99099020	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99099020T>C	ENST00000319562.6	+	26	3270	c.3005T>C	c.(3004-3006)tTc>tCc	p.F1002S	FARP1_ENST00000376586.2_Missense_Mutation_p.F1033S|FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1002	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCTGCACTTCAAGTCCCAC	0.577																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(3097-3099)tTc>tCc		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							204.0	150.0	168.0					13																	99099020		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99099020T>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.3005T>C	13.37:g.99099020T>C	ENSP00000322926:p.Phe1002Ser					FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S|FARP1_ENST00000319562.6_Missense_Mutation_p.F1002S	p.F1033S			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		27	3434	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1002					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.3098T>C	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	T	33	5.264139	0.95399	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.11495	2.77;2.77	5.45	5.45	0.79879	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047789	0.85682	D	0.000000	T	0.28333	0.0700	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.00998	-1.1486	10	0.87932	D	0	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	1002;1033	Q9Y4F1;C9JME2	FARP1_HUMAN;.	S	1033;1002	ENSP00000365771:F1033S;ENSP00000322926:F1002S	ENSP00000322926:F1002S	F	+	2	0	FARP1	97897021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.064000	0.61679	0.454000	0.30748	TTC		0.577	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		77	368	0	0	0	1	0	77	368				
SNX6	58533	broad.mit.edu	37	14	35078930	35078930	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35078930C>A	ENST00000362031.4	-	3	139	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396534.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	25	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTTTGAAGATCTACATTTATT	0.313																																						ENST00000362031.4																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(109-111)Gat>Tat		sorting nexin 6							85.0	79.0	81.0					14																	35078930		1847	4101	5948	SO:0001583	missense	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35078930C>A	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.109G>T	14.37:g.35078930C>A	ENSP00000355217:p.Asp37Tyr					SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	p.D37Y	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	3	139	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		25			PX.		C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	37	c.109G>T	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756702	0.49362	.	.	ENSG00000129515	ENST00000362031;ENST00000557265;ENST00000555648	T;T	0.61742	2.03;0.08	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78386	-0.2224	10	0.87932	D	0	-17.3526	18.0431	0.89324	0.0:1.0:0.0:0.0	.	25	Q9UNH7	SNX6_HUMAN	Y	37;37;55	ENSP00000355217:D37Y;ENSP00000452577:D37Y	ENSP00000355217:D37Y	D	-	1	0	SNX6	34148681	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.609000	0.82925	2.432000	0.82394	0.655000	0.94253	GAT		0.313	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			8	313	1	0	1.06961e-07	1	1.11297e-07	8	313				
CHAD	1101	broad.mit.edu	37	17	48545740	48545740	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48545740C>T	ENST00000508540.1	-	1	587	c.435G>A	c.(433-435)ccG>ccA	p.P145P	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Silent_p.P145P|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	145					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTTGACCAGCGGGGAGAGCA	0.627																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(433-435)ccG>ccA		chondroadherin							42.0	41.0	42.0					17																	48545740		2203	4300	6503	SO:0001819	synonymous_variant	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545740C>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.435G>A	17.37:g.48545740C>T						ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Silent_p.P145P|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron	p.P145P	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	587	-	Breast(11;1.93e-18)		145					A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	c.435G>A	CCDS11568.1																																																																																				0.627	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		59	314	0	0	0	1	0	59	314				
ZFC3H1	196441	broad.mit.edu	37	12	72026135	72026135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72026135C>T	ENST00000378743.3	-	15	3335	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	993					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGTTCCTTTGCTTTA	0.378																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2977-2979)Gaa>Aaa		zinc finger, C3H1-type containing							159.0	155.0	156.0					12																	72026135		1831	4078	5909	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72026135C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2977G>A	12.37:g.72026135C>T	ENSP00000368017:p.Glu993Lys						p.E993K	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			15	3335	-			993					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2977G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484524	0.63962	.	.	ENSG00000133858	ENST00000378743	T	0.33438	1.41	5.87	5.87	0.94306	.	0.062950	0.64402	D	0.000007	T	0.27900	0.0687	N	0.24115	0.695	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.02339	-1.1174	10	0.49607	T	0.09	.	20.1793	0.98193	0.0:1.0:0.0:0.0	.	993	O60293	ZC3H1_HUMAN	K	993	ENSP00000368017:E993K	ENSP00000368017:E993K	E	-	1	0	ZFC3H1	70312402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.705000	0.54823	2.779000	0.95612	0.585000	0.79938	GAA		0.378	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		186	910	0	0	0	1	0	186	910				
GNPTAB	79158	broad.mit.edu	37	12	102158045	102158045	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102158045A>G	ENST00000299314.7	-	13	2912	c.2650T>C	c.(2650-2652)Tac>Cac	p.Y884H	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	884					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTATCTGTGTAATGCTGCAGC	0.393																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2650-2652)Tac>Cac		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							290.0	281.0	284.0					12																	102158045		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158045A>G	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2650T>C	12.37:g.102158045A>G	ENSP00000299314:p.Tyr884His						p.Y884H	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2912	-			884					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2650T>C	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806642	0.50421	.	.	ENSG00000111670	ENST00000299314	D	0.96554	-4.05	5.62	0.515	0.17013	.	0.377659	0.31082	N	0.008299	D	0.92763	0.7699	L	0.59436	1.845	0.09310	N	0.999995	B	0.11235	0.004	B	0.12156	0.007	D	0.84408	0.0564	10	0.42905	T	0.14	-2.6504	5.9361	0.19167	0.6673:0.1281:0.2045:0.0	.	884	Q3T906	GNPTA_HUMAN	H	884	ENSP00000299314:Y884H	ENSP00000299314:Y884H	Y	-	1	0	GNPTAB	100682176	0.839000	0.29477	0.000000	0.03702	0.685000	0.39939	3.055000	0.49916	-0.135000	0.11495	0.533000	0.62120	TAC		0.393	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			226	926	0	0	0	1	0	226	926				
ITGAM	3684	broad.mit.edu	37	16	31289327	31289327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31289327G>A	ENST00000287497.8	+	12	1328	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ITGAM_ENST00000544665.3_Missense_Mutation_p.S418N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	418					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGGTGCAAAGCCTGGTTCTG	0.587																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1252-1254)aGc>aAc		integrin, alpha M (complement component 3 receptor 3 subunit)							44.0	45.0	45.0					16																	31289327		2042	4183	6225	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31289327G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1253G>A	16.37:g.31289327G>A	ENSP00000287497:p.Ser418Asn					ITGAM_ENST00000287497.8_Missense_Mutation_p.S418N	p.S418N	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			12	1324	+			418					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1253G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	7.835	0.720633	0.15372	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.21932	1.98;1.98	4.75	-2.93	0.05598	.	.	.	.	.	T	0.14013	0.0339	L	0.43554	1.36	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.004	T	0.38672	-0.9650	9	0.16896	T	0.51	.	6.729	0.23373	0.4375:0.1202:0.4423:0.0	.	418;418	Q4VAK1;P11215	.;ITAM_HUMAN	N	418	ENSP00000441691:S418N;ENSP00000287497:S418N	ENSP00000287497:S418N	S	+	2	0	ITGAM	31196828	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.896000	0.04114	-0.948000	0.03668	-2.236000	0.00289	AGC		0.587	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		10	44	0	0	0	1	0	10	44				
IFT172	26160	broad.mit.edu	37	2	27684682	27684682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27684682C>T	ENST00000260570.3	-	21	2240	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	713					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGGTACATGCCCATGGCCTCC	0.517																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2137-2139)Ggc>Agc		intraflagellar transport 172 homolog (Chlamydomonas)							100.0	86.0	90.0					2																	27684682		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27684682C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2137G>A	2.37:g.27684682C>T	ENSP00000260570:p.Gly713Ser						p.G713S	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			21	2240	-	Acute lymphoblastic leukemia(172;0.155)		713					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2137G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185459	0.38609	.	.	ENSG00000138002	ENST00000260570	T	0.20738	2.05	5.46	1.68	0.24146	Tetratricopeptide-like helical (1);	0.542765	0.22378	N	0.060846	T	0.09949	0.0244	N	0.12746	0.255	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.24584	-1.0156	10	0.19147	T	0.46	-3.4826	8.2106	0.31481	0.0:0.6061:0.0:0.3939	.	713	Q9UG01	IF172_HUMAN	S	713	ENSP00000260570:G713S	ENSP00000260570:G713S	G	-	1	0	IFT172	27538186	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.139000	0.31504	0.032000	0.15435	0.591000	0.81541	GGC		0.517	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		58	193	0	0	0	1	0	58	193				
MYPN	84665	broad.mit.edu	37	10	69926239	69926239	+	Missense_Mutation	SNP	C	C	T	rs367570424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69926239C>T	ENST00000358913.5	+	10	2277	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MYPN_ENST00000540630.1_Missense_Mutation_p.R597C|MYPN_ENST00000354393.2_Missense_Mutation_p.R322C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	597					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GATTGGGCTTCGTGTGCACTT	0.572																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(1789-1791)Cgt>Tgt		myopalladin		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	73.0	63.0	66.0		1789	5.3	1.0	10		66	0,8600		0,0,4300	no	missense	MYPN	NM_032578.2	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	597/1321	69926239	2,13004	2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69926239C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1789C>T	10.37:g.69926239C>T	ENSP00000351790:p.Arg597Cys					MYPN_ENST00000354393.2_Missense_Mutation_p.R322C|MYPN_ENST00000540630.1_Missense_Mutation_p.R597C	p.R597C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			10	2277	+			597					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1789C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386227	0.82902	4.54E-4	0.0	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59364	0.27;0.29;0.27	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66196	0.897;0.942;0.877	T	0.70528	-0.4847	9	.	.	.	.	13.8632	0.63573	0.1526:0.8474:0.0:0.0	.	597;322;597	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	322;322;597;597	ENSP00000346369:R322C;ENSP00000351790:R597C;ENSP00000441668:R597C	.	R	+	1	0	MYPN	69596245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.080000	0.57620	2.455000	0.83008	0.655000	0.94253	CGT		0.572	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		60	208	0	0	0	1	0	60	208				
HSD17B3	3293	broad.mit.edu	37	9	98997811	98997811	+	Silent	SNP	G	G	A	rs552614077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98997811G>A	ENST00000375263.3	-	11	911	c.864C>T	c.(862-864)agC>agT	p.S288S	HSD17B3_ENST00000464104.1_5'UTR|AL160269.1_ENST00000577254.1_RNA|HSD17B3_ENST00000375262.2_Silent_p.S238S	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	288					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				GGAAGGCACCGCTGTAGAAGG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17973	0.0		0.0	False		,,,				2504	0.0					ENST00000375263.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(862-864)agC>agT		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)						93.0	74.0	80.0					9																	98997811		2203	4300	6503	SO:0001819	synonymous_variant	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:98997811G>A		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.864C>T	9.37:g.98997811G>A						HSD17B3_ENST00000375262.2_Silent_p.S238S|HSD17B3_ENST00000464104.1_5'UTR	p.S288S	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			11	911	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	288					Q5U0Q6	Silent	SNP	ENST00000375263.3	37	c.864C>T	CCDS6716.1																																																																																				0.537	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		20	125	0	0	0	1	0	20	125				
CPNE5	57699	broad.mit.edu	37	6	36714294	36714294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36714294G>A	ENST00000244751.2	-	16	1703	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	360	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGCCAGCGCGTAGGCGTT	0.612																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1078-1080)gCg>gTg		copine V							101.0	93.0	95.0					6																	36714294		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36714294G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1079C>T	6.37:g.36714294G>A	ENSP00000244751:p.Ala360Val					CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V|CPNE5_ENST00000459703.1_5'UTR	p.A360V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			16	1703	-			360			VWFA.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1079C>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437808	0.62955	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.22539	1.95;1.95	4.77	4.77	0.60923	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	L	0.46614	1.455	0.80722	D	1	P	0.36412	0.552	B	0.38880	0.284	T	0.02797	-1.1109	10	0.49607	T	0.09	.	15.2842	0.73814	0.0:0.0:1.0:0.0	.	360	Q9HCH3	CPNE5_HUMAN	V	360;68	ENSP00000244751:A360V;ENSP00000376885:A68V	ENSP00000244751:A360V	A	-	2	0	CPNE5	36822272	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	3.686000	0.54685	2.193000	0.70182	0.491000	0.48974	GCG		0.612	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		53	298	0	0	0	1	0	53	298				
PNO1	56902	broad.mit.edu	37	2	68385624	68385624	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68385624T>C	ENST00000263657.2	+	2	411	c.320T>C	c.(319-321)aTa>aCa	p.I107T	WDR92_ENST00000492039.2_5'Flank|WDR92_ENST00000409164.1_5'Flank|RP11-474G23.1_ENST00000406334.3_Intron|WDR92_ENST00000295121.6_5'Flank|WDR92_ENST00000406245.2_5'Flank	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	107						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GGACTTCAGATACGCTTTAAC	0.383																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(319-321)aTa>aCa		partner of NOB1 homolog (S. cerevisiae)							101.0	101.0	101.0					2																	68385624		2203	4300	6503	SO:0001583	missense	56902					nucleolus	RNA binding	g.chr2:68385624T>C	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.320T>C	2.37:g.68385624T>C	ENSP00000263657:p.Ile107Thr						p.I107T	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN			2	411	+			107					A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	ENST00000263657.2	37	c.320T>C	CCDS1885.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718664	0.89205	.	.	ENSG00000115946	ENST00000263657	T	0.46819	0.86	6.02	6.02	0.97574	.	0.045125	0.85682	D	0.000000	T	0.66896	0.2836	M	0.78344	2.41	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.71351	-0.4619	10	0.87932	D	0	-13.3743	16.542	0.84395	0.0:0.0:0.0:1.0	.	107	Q9NRX1	PNO1_HUMAN	T	107	ENSP00000263657:I107T	ENSP00000263657:I107T	I	+	2	0	PNO1	68239128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.882000	0.87258	2.304000	0.77564	0.528000	0.53228	ATA		0.383	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		11	401	0	0	0	1	0	11	401				
PDZRN3	23024	broad.mit.edu	37	3	73433317	73433317	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433317G>T	ENST00000263666.4	-	10	2514	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	800					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCCCGTAGGCTTCCGTGG	0.652																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2398-2400)gcC>gcA		PDZ domain containing ring finger 3							47.0	51.0	49.0					3																	73433317		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433317G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2400C>A	3.37:g.73433317G>T						PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000466780.1_Silent_p.A457A	p.A800A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2514	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	800					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2400C>A	CCDS33789.1																																																																																				0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		7	391	1	0	0.000274275	1	0.000278163	7	391				
CRYM-AS1	400508	broad.mit.edu	37	16	21328268	21328268	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21328268C>T	ENST00000444326.1	+	0	384							A6NIL9	CRAS1_HUMAN	CRYM antisense RNA 1							integral component of membrane (GO:0016021)											TCTGTTATTACTATAAATAAG	0.423																																						ENST00000444326.1																			0																				203.0	187.0	192.0					16																	21328268		1864	4116	5980			0							g.chr16:21328268C>T			16p12.2	2012-10-12	2012-08-15	2011-08-11	ENSG00000189149	ENSG00000189149		"""Long non-coding RNAs"""	34405	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 169"", ""CRYM antisense RNA 1 (non-protein coding)"""	NCRNA00169			Standard	NR_026675		Approved	FLJ41766	uc010bwr.1	A6NIL9	OTTHUMG00000156701		16.37:g.21328268C>T														0	384	+								B3KVZ2	RNA	SNP	ENST00000444326.1	37																																																																																						0.423	CRYM-AS1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000345335.1	NR_026675		88	1114	0	0	0	1	0	88	1114				
CCDC15	80071	broad.mit.edu	37	11	124857477	124857477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124857477G>A	ENST00000344762.5	+	8	1614	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	CCDC15_ENST00000529051.1_Missense_Mutation_p.R452K	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	452						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TTCCTACCCAGAGACCAGCAT	0.408																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1354-1356)aGa>aAa		coiled-coil domain containing 15							104.0	100.0	101.0					11																	124857477		1853	4094	5947	SO:0001583	missense	80071					centrosome		g.chr11:124857477G>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1355G>A	11.37:g.124857477G>A	ENSP00000341684:p.Arg452Lys					CCDC15_ENST00000344762.5_Missense_Mutation_p.R452K	p.R452K			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1614	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	452					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1355G>A	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	0.655	-0.807992	0.02819	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29917	1.59;1.55	3.4	-5.98	0.02220	.	1.037760	0.07723	N	0.943966	T	0.10852	0.0265	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.35325	-0.9793	10	0.02654	T	1	-0.0822	1.9469	0.03358	0.1979:0.288:0.3713:0.1428	.	452	Q0P6D6	CCD15_HUMAN	K	452	ENSP00000435403:R452K;ENSP00000341684:R452K	ENSP00000341684:R452K	R	+	2	0	CCDC15	124362687	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-1.489000	0.02306	-1.056000	0.03205	0.563000	0.77884	AGA		0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		73	440	0	0	0	1	0	73	440				
SUCNR1	56670	broad.mit.edu	37	3	151598717	151598717	+	Missense_Mutation	SNP	G	G	A	rs148906217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151598717G>A	ENST00000362032.5	+	3	491	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TATCCTTTCCGAGAACACCTT	0.368													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		21838	0.0		0.0	False		,,,				2504	0.0					ENST00000362032.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(385-387)cGa>cAa		succinate receptor 1	Succinic acid(DB00139)	G	GLN/ARG	42,4364	45.3+/-79.5	0,42,2161	119.0	117.0	118.0		386	5.2	1.0	3	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SUCNR1	NM_033050.4	43	0,44,6459	AA,AG,GG		0.0233,0.9532,0.3383	probably-damaging	129/335	151598717	44,12962	2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598717G>A	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.386G>A	3.37:g.151598717G>A	ENSP00000355156:p.Arg129Gln					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.R129Q	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	491	+			129					A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.386G>A	CCDS3162.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.1	4.494259	0.85069	0.009532	2.33E-4	ENSG00000198829	ENST00000362032	T	0.40756	1.02	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.077402	0.51477	U	0.000095	T	0.49643	0.1569	L	0.56769	1.78	0.36495	D	0.868676	D	0.69078	0.997	P	0.58577	0.841	T	0.60296	-0.7291	10	0.42905	T	0.14	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	129	Q9BXA5	SUCR1_HUMAN	Q	129	ENSP00000355156:R129Q	ENSP00000355156:R129Q	R	+	2	0	SUCNR1	153081407	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	4.085000	0.57657	2.586000	0.87340	0.655000	0.94253	CGA		0.368	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		111	411	0	0	0	1	0	111	411				
CTNNA2	1496	broad.mit.edu	37	2	80646714	80646714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80646714C>T	ENST00000402739.4	+	8	1283	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	CTNNA2_ENST00000541047.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000466387.1_Silent_p.N426N|CTNNA2_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000496558.1_Silent_p.N426N	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	426					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.N426K(3)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCATGCCAACAAACTGGTAG	0.433																																						ENST00000466387.1																			3	Substitution - Missense(3)	p.N426K(3)	upper_aerodigestive_tract(1)|lung(1)|prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1276-1278)aaC>aaT		catenin (cadherin-associated protein), alpha 2							90.0	91.0	91.0					2																	80646714		2033	4235	6268	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646714C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1278C>T	2.37:g.80646714C>T						CTNNA2_ENST00000541047.1_Silent_p.N426N|CTNNA2_ENST00000496558.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000402739.4_Silent_p.N426N	p.N426N			P26232	CTNA2_HUMAN			13	2002	+			426					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1278C>T																																																																																					0.433	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		20	307	0	0	0	1	0	20	307				
TRPS1	7227	broad.mit.edu	37	8	116616583	116616583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116616583C>T	ENST00000220888.5	-	3	1733	c.1574G>A	c.(1573-1575)tGt>tAt	p.C525Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000395715.3_Missense_Mutation_p.C538Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	525					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAACTGACAATTATAGCT	0.463									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1612-1614)tGt>tAt		trichorhinophalangeal syndrome I							149.0	146.0	147.0					8																	116616583		1902	4125	6027	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616583C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1574G>A	8.37:g.116616583C>T	ENSP00000220888:p.Cys525Tyr					TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.C525Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y	p.C538Y	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2190	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		525					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1613G>A		.	.	.	.	.	.	.	.	.	.	C	18.65	3.668845	0.67814	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.994;0.997	T	0.63056	-0.6722	10	0.87932	D	0	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	529;525;538	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Y	538;525;529;525	ENSP00000379065:C538Y;ENSP00000220888:C525Y;ENSP00000428680:C529Y;ENSP00000429174:C525Y	ENSP00000220888:C525Y	C	-	2	0	TRPS1	116685758	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.419000	0.80179	2.793000	0.96121	0.591000	0.81541	TGT		0.463	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		132	619	0	0	0	1	0	132	619				
TBC1D3P5	440419	broad.mit.edu	37	17	25752540	25752540	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25752540A>C	ENST00000586223.1	+	0	1375					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		AGGGGCTCCAAGACCATCAGG	0.552																																						ENST00000586223.1																			0																																																			0							g.chr17:25752540A>C			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25752540A>C								NR_033892.1						0	1375	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.552	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		98	499	0	0	0	1	0	98	499				
CIT	11113	broad.mit.edu	37	12	120135797	120135797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120135797C>T	ENST00000261833.7	-	44	5612	c.5560G>A	c.(5560-5562)Gca>Aca	p.A1854T	CIT_ENST00000392521.2_Missense_Mutation_p.A1896T|RP1-127H14.3_ENST00000535109.1_5'Flank|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1854	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGAGCGTGCCTGGATCTCA	0.532																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5686-5688)Gca>Aca		citron (rho-interacting, serine/threonine kinase 21)							231.0	209.0	217.0					12																	120135797		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120135797C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5560G>A	12.37:g.120135797C>T	ENSP00000261833:p.Ala1854Thr					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A1854T	p.A1896T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	45	5741	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1854					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.5686G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636663	0.67130	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.03689	3.84;3.84	5.34	5.34	0.76211	Citron-like (3);	0.133331	0.49305	D	0.000142	T	0.05227	0.0139	L	0.29908	0.895	0.50813	D	0.999892	P;B;B	0.35793	0.521;0.149;0.013	B;B;B	0.38378	0.272;0.098;0.031	T	0.55276	-0.8166	10	0.29301	T	0.29	.	19.4207	0.94720	0.0:1.0:0.0:0.0	.	1896;1854;1372	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1896;1854	ENSP00000376306:A1896T;ENSP00000261833:A1854T	ENSP00000261833:A1854T	A	-	1	0	CIT	118620180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.649000	0.54417	2.653000	0.90120	0.655000	0.94253	GCA		0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		83	953	0	0	0	1	0	83	953				
TRMT10A	93587	broad.mit.edu	37	4	100470276	100470276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100470276G>A	ENST00000273962.3	-	8	1301	c.989C>T	c.(988-990)aCt>aTt	p.T330I	TRMT10A_ENST00000394877.3_Missense_Mutation_p.T330I|TRMT10A_ENST00000394876.2_Missense_Mutation_p.T330I	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	330					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TGTAGATTCAGTGTGATTTTC	0.383																																						ENST00000273962.3																			0											c.(988-990)aCt>aTt		tRNA methyltransferase 10 homolog A (S. cerevisiae)							222.0	197.0	206.0					4																	100470276		2203	4300	6503	SO:0001583	missense	93587							g.chr4:100470276G>A	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.989C>T	4.37:g.100470276G>A	ENSP00000273962:p.Thr330Ile					TRMT10A_ENST00000394876.2_Missense_Mutation_p.T330I|TRMT10A_ENST00000394877.3_Missense_Mutation_p.T330I	p.T330I	NM_152292.4	NP_689505.1					8	1301	-								B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.989C>T	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579851	0.28180	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.18016	2.24;2.24;2.24	5.4	3.65	0.41850	.	2.068660	0.01640	N	0.023991	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18561	0.022	T	0.22977	-1.0201	10	0.56958	D	0.05	-0.0014	6.8365	0.23939	0.1592:0.1461:0.6947:0.0	.	330	Q8TBZ6	RG9D2_HUMAN	I	330	ENSP00000378343:T330I;ENSP00000273962:T330I;ENSP00000378342:T330I	ENSP00000273962:T330I	T	-	2	0	RG9MTD2	100689299	0.001000	0.12720	0.002000	0.10522	0.057000	0.15508	0.738000	0.26158	0.747000	0.32809	0.655000	0.94253	ACT		0.383	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		100	439	0	0	0	1	0	100	439				
PDCD11	22984	broad.mit.edu	37	10	105198541	105198541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105198541T>C	ENST00000369797.3	+	27	4095	c.4001T>C	c.(4000-4002)aTc>aCc	p.I1334T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1334	S1 motif 12. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTAGGGTCCATCCAGCCACAC	0.552																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4000-4002)aTc>aCc		programmed cell death 11							111.0	114.0	113.0					10																	105198541		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105198541T>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4001T>C	10.37:g.105198541T>C	ENSP00000358812:p.Ile1334Thr						p.I1334T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	27	4095	+		Colorectal(252;0.0747)|Breast(234;0.128)	1334			S1 motif 12.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4001T>C	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025769	0.35701	.	.	ENSG00000148843	ENST00000369797	T	0.21031	2.03	5.62	5.62	0.85841	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.295434	0.37053	N	0.002264	T	0.23094	0.0558	L	0.53729	1.69	0.09310	N	1	B	0.32717	0.381	B	0.30029	0.11	T	0.14090	-1.0485	10	0.44086	T	0.13	-3.134	15.8248	0.78690	0.0:0.0:0.0:1.0	.	1334	Q14690	RRP5_HUMAN	T	1334	ENSP00000358812:I1334T	ENSP00000358812:I1334T	I	+	2	0	PDCD11	105188531	0.846000	0.29590	0.017000	0.16124	0.003000	0.03518	6.593000	0.74100	2.140000	0.66376	0.459000	0.35465	ATC		0.552	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			35	372	0	0	0	1	0	35	372				
MYO3B	140469	broad.mit.edu	37	2	171248064	171248064	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171248064T>C	ENST00000408978.4	+	15	1755	c.1612T>C	c.(1612-1614)Tat>Cat	p.Y538H	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000334231.6_Missense_Mutation_p.Y547H	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	538	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTACTATATTTATGCTGGTCT	0.343																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1639-1641)Tat>Cat		myosin IIIB							32.0	32.0	32.0					2																	171248064		1781	4054	5835	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171248064T>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1612T>C	2.37:g.171248064T>C	ENSP00000386213:p.Tyr538His					MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.Y538H	p.Y547H			Q8WXR4	MYO3B_HUMAN			15	1639	+			538			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1639T>C	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562697	0.86335	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.88979	2.995	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.997;0.981;0.998	D	0.95283	0.8388	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	538;538;538	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	H	538;538;537;547;547	ENSP00000386497:Y538H;ENSP00000386213:Y538H;ENSP00000446237:Y547H;ENSP00000335100:Y547H	ENSP00000314213:Y537H	Y	+	1	0	MYO3B	170956310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.499000	0.81566	2.371000	0.80710	0.533000	0.62120	TAT		0.343	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			7	248	0	0	0	1	0	7	248				
LMNTD1	160492	broad.mit.edu	37	12	25702320	25702320	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25702320T>G	ENST00000282881.6	-	2	336	c.187A>C	c.(187-189)Act>Cct	p.T63P	IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		63					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AATTGTCCAGTTGTTGATATA	0.388																																						ENST00000282881.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(187-189)Act>Cct		intermediate filament tail domain containing 1							71.0	63.0	66.0					12																	25702320		2203	4300	6503	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25702320T>G																												ENST00000282881.6:c.187A>C	12.37:g.25702320T>G	ENSP00000282881:p.Thr63Pro					IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P	p.T63P	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN			2	336	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		63					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.187A>C	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	8.138	0.784586	0.16189	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632;ENST00000538178;ENST00000540106;ENST00000542224	T;T;T	0.14640	2.7;2.71;2.49	3.7	-3.36	0.04913	.	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34161	0.439;0.439;0.312	B;B;B	0.32762	0.152;0.152;0.072	T	0.32587	-0.9901	9	0.40728	T	0.16	-4.1793	4.3876	0.11325	0.17:0.4187:0.0:0.4113	.	84;84;63	Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;ILFT1_HUMAN	P	63;84;84;38;38;38	ENSP00000282881:T63P;ENSP00000407353:T84P;ENSP00000393150:T84P	ENSP00000282881:T63P	T	-	1	0	IFLTD1	25593587	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.468000	0.02350	-0.697000	0.05092	0.528000	0.53228	ACT		0.388	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			31	150	0	0	0	1	0	31	150				
TENM3	55714	broad.mit.edu	37	4	183675541	183675541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183675541C>T	ENST00000511685.1	+	22	4144	c.4021C>T	c.(4021-4023)Cgt>Tgt	p.R1341C	TENM3_ENST00000406950.2_Missense_Mutation_p.R1341C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1341					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TATTAAGGTACGTCTGGAATG	0.373																																						ENST00000511685.1																			0											c.(4021-4023)Cgt>Tgt		teneurin transmembrane protein 3							27.0	24.0	25.0					4																	183675541		1858	4104	5962	SO:0001583	missense	55714							g.chr4:183675541C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4021C>T	4.37:g.183675541C>T	ENSP00000424226:p.Arg1341Cys					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1341C	p.R1341C							22	4144	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4021C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	.	18.91	3.723418	0.68959	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87491	-2.26;-2.26	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.89928	0.6857	M	0.83012	2.62	0.80722	D	1	D	0.69078	0.997	B	0.44315	0.446	D	0.91588	0.5284	9	0.87932	D	0	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	1341	Q9P273	TEN3_HUMAN	C	1341	ENSP00000424226:R1341C;ENSP00000385276:R1341C	ENSP00000385276:R1341C	R	+	1	0	ODZ3	183912535	1.000000	0.71417	0.961000	0.40146	0.828000	0.46876	6.002000	0.70693	2.906000	0.99361	0.655000	0.94253	CGT		0.373	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	37	0	0	0	1	0	5	37				
ANK3	288	broad.mit.edu	37	10	61834648	61834648	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61834648G>A	ENST00000280772.2	-	37	6182	c.5991C>T	c.(5989-5991)atC>atT	p.I1997I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1997					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCTTCCCGGATTTCTTCCG	0.448																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5989-5991)atC>atT		ankyrin 3, node of Ranvier (ankyrin G)							70.0	73.0	72.0					10																	61834648		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834648G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5991C>T	10.37:g.61834648G>A						ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.I1997I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	6182	-			1997					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5991C>T	CCDS7258.1																																																																																				0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		14	388	0	0	0	1	0	14	388				
RACGAP1	29127	broad.mit.edu	37	12	50386039	50386039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50386039G>A	ENST00000548961.1	-	1	102	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C					Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTGGGTTGACGCTTGATGTCC	0.468																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(1567-1569)Cgt>Tgt		Rac GTPase activating protein 1							156.0	141.0	146.0					12																	50386039		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50386039G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000548961.1:c.97C>T	12.37:g.50386039G>A	ENSP00000446889:p.Arg33Cys					RACGAP1_ENST00000548961.1_Missense_Mutation_p.R33C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C	p.R523C			Q9H0H5	RGAP1_HUMAN			15	1868	-			523			Rho-GAP.			Missense_Mutation	SNP	ENST00000548961.1	37	c.1567C>T		.	.	.	.	.	.	.	.	.	.	G	15.67	2.903173	0.52333	.	.	ENSG00000161800	ENST00000548961;ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	6.06	5.17	0.71159	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.048722	0.85682	D	0.000000	T	0.25269	0.0614	M	0.74647	2.275	0.80722	D	1	P	0.36171	0.541	B	0.22386	0.039	T	0.06499	-1.0823	10	0.42905	T	0.14	-1.5039	11.026	0.47744	0.0664:0.0:0.8044:0.1292	.	523	Q9H0H5	RGAP1_HUMAN	C	33;523;523;523;523;523;523;259	ENSP00000446889:R33C;ENSP00000404190:R523C;ENSP00000309871:R523C;ENSP00000413241:R523C;ENSP00000404808:R523C;ENSP00000449374:R523C;ENSP00000449370:R523C;ENSP00000449565:R259C	ENSP00000309871:R523C	R	-	1	0	RACGAP1	48672306	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.669000	0.68081	1.572000	0.49736	0.650000	0.86243	CGT		0.468	RACGAP1-017	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000406031.2	NM_013277		126	568	0	0	0	1	0	126	568				
TNNC1	7134	broad.mit.edu	37	3	52485481	52485481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485481G>A	ENST00000232975.3	-	5	434	c.380C>T	c.(379-381)aCc>aTc	p.T127I		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	127	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	CTCCGTGATGGTCTCGCCTGT	0.587																																						ENST00000232975.3																			0				endometrium(1)|lung(3)|ovary(1)|skin(1)	6						c.(379-381)aCc>aTc		troponin C type 1 (slow)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						166.0	129.0	142.0					3																	52485481		2203	4300	6503	SO:0001583	missense	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485481G>A		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.380C>T	3.37:g.52485481G>A	ENSP00000232975:p.Thr127Ile						p.T127I	NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	5	434	-			127			EF-hand 3.		O14800|P02590|P04463	Missense_Mutation	SNP	ENST00000232975.3	37	c.380C>T	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189317	0.57909	.	.	ENSG00000114854	ENST00000232975;ENST00000496590	D;D	0.95171	-3.63;-3.63	5.58	3.76	0.43208	EF-hand-like domain (1);	0.192979	0.56097	N	0.000035	D	0.88735	0.6517	N	0.19112	0.55	0.50813	D	0.999896	B	0.10296	0.003	B	0.13407	0.009	T	0.83351	-0.0003	10	0.87932	D	0	.	10.7971	0.46466	0.0682:0.0:0.8012:0.1306	.	127	P63316	TNNC1_HUMAN	I	127;83	ENSP00000232975:T127I;ENSP00000420596:T83I	ENSP00000232975:T127I	T	-	2	0	TNNC1	52460521	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.917000	0.48821	0.697000	0.31718	0.561000	0.74099	ACC		0.587	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			61	253	0	0	0	1	0	61	253				
DLL1	28514	broad.mit.edu	37	6	170592486	170592486	+	Silent	SNP	G	G	A	rs201096307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592486G>A	ENST00000366756.3	-	9	2214	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	627					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CATTCTTGTCGGCGCTGTGGT	0.607																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1879-1881)gcC>gcT		delta-like 1 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	229.0	191.0	204.0		1881	-7.9	0.0	6		204	0,8600		0,0,4300	no	coding-synonymous	DLL1	NM_005618.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		627/724	170592486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592486G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1881C>T	6.37:g.170592486G>A							p.A627A	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2214	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	627					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1881C>T	CCDS5313.1																																																																																				0.607	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			118	575	0	0	0	1	0	118	575				
ITGAE	3682	broad.mit.edu	37	17	3655126	3655126	+	Missense_Mutation	SNP	C	C	T	rs149540181	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3655126C>T	ENST00000263087.4	-	15	1809	c.1711G>A	c.(1711-1713)Ggg>Agg	p.G571R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	571					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTGGTGAACCCGGGGTGCCCA	0.567													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17693	0.0		0.001	False		,,,				2504	0.001				NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1711-1713)Ggg>Agg		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)		C	ARG/GLY	3,4403	6.2+/-15.9	0,3,2200	60.0	64.0	63.0		1711	-0.2	0.0	17	dbSNP_134	63	31,8569	21.0+/-64.5	0,31,4269	yes	missense	ITGAE	NM_002208.4	125	0,34,6469	TT,TC,CC		0.3605,0.0681,0.2614	benign	571/1180	3655126	34,12972	2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3655126C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1711G>A	17.37:g.3655126C>T	ENSP00000263087:p.Gly571Arg						p.G571R	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	15	1809	-			571					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.1711G>A	CCDS32531.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	10.95	1.494602	0.26774	6.81E-4	0.003605	ENSG00000083457	ENST00000263087	T	0.36699	1.24	3.89	-0.147	0.13428	.	.	.	.	.	T	0.27349	0.0671	L	0.52823	1.66	0.09310	N	1	B	0.26041	0.14	B	0.16289	0.015	T	0.27839	-1.0062	9	0.56958	D	0.05	.	3.6205	0.08093	0.0:0.4438:0.279:0.2773	.	571	P38570	ITAE_HUMAN	R	571	ENSP00000263087:G571R	ENSP00000263087:G571R	G	-	1	0	ITGAE	3601875	0.000000	0.05858	0.002000	0.10522	0.113000	0.19764	-0.880000	0.04183	0.239000	0.21243	0.555000	0.69702	GGG		0.567	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		68	362	0	0	0	1	0	68	362				
PDE2A	5138	broad.mit.edu	37	11	72299898	72299898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72299898G>A	ENST00000334456.5	-	13	1245	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S|PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	334	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTGATGACAGGGACACAGAGC	0.592																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1000-1002)Cct>Tct		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						72.0	63.0	66.0					11																	72299898		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72299898G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1000C>T	11.37:g.72299898G>A	ENSP00000334910:p.Pro334Ser					PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S	p.P334S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		13	1245	-			334			GAF 1.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1000C>T	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.959321|4.959321	0.92726|0.92726	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000538299|ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.|D;D;D;D;D;D	.|0.95447	.|-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.25|5.25	5.25|5.25	0.73442|0.73442	.|GAF (2);	0.692859|0.692859	0.13673|0.13673	N|N	0.370724|0.370724	D|D	0.97247|0.97247	0.9100|0.9100	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.989;0.998;0.999;1.0;0.999	D|D	0.97102|0.97102	0.9798|0.9798	6|10	.|0.87932	.|D	.|0	.|.	17.4063|17.4063	0.87474|0.87474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|219;334;325;327;334	.|E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.|.;PDE2A_HUMAN;.;.;.	L|S	95|334;325;403;327;219;325;158	.|ENSP00000334910:P334S;ENSP00000411657:P325S;ENSP00000442256:P327S;ENSP00000410310:P219S;ENSP00000446399:P325S;ENSP00000439077:P158S	.|ENSP00000334910:P334S	P|P	-|-	2|1	0|0	PDE2A|PDE2A	71977546|71977546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.496000|9.496000	0.97967|0.97967	2.461000|2.461000	0.83175|0.83175	0.491000|0.491000	0.48974|0.48974	CCC|CCT		0.592	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		77	295	0	0	0	1	0	77	295				
RICTOR	253260	broad.mit.edu	37	5	38950004	38950004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950004C>T	ENST00000357387.3	-	31	3976	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAGTTACAATCTGCTAGACTT	0.418																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3946-3948)Gat>Aat		RPTOR independent companion of MTOR, complex 2							120.0	115.0	116.0					5																	38950004		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950004C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3946G>A	5.37:g.38950004C>T	ENSP00000349959:p.Asp1316Asn					RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	p.D1316N	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			31	3976	-	all_lung(31;0.000396)		1316						Missense_Mutation	SNP	ENST00000357387.3	37	c.3946G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616596	0.87359	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.54866	0.65;0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.71527	-0.4566	10	0.87932	D	0	-20.5176	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1316;1316	Q6R327;Q6R327-3	RICTR_HUMAN;.	N	1316	ENSP00000349959:D1316N;ENSP00000296782:D1316N	ENSP00000296782:D1316N	D	-	1	0	RICTOR	38985761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.868000	0.98415	0.557000	0.71058	GAT		0.418	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		58	324	0	0	0	1	0	58	324				
KIF21A	55605	broad.mit.edu	37	12	39711958	39711958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39711958G>A	ENST00000361418.5	-	29	3840	c.3825C>T	c.(3823-3825)tcC>tcT	p.S1275S	KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000361961.3_Silent_p.S1262S|KIF21A_ENST00000395670.3_Silent_p.S1275S|KIF21A_ENST00000541463.2_Silent_p.S1239S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1275					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGCTTGGTGGGGAAGAAGGAG	0.398																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3823-3825)tcC>tcT		kinesin family member 21A							75.0	81.0	79.0					12																	39711958		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39711958G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3825C>T	12.37:g.39711958G>A						KIF21A_ENST00000541463.2_Silent_p.S1239S|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000361418.5_Silent_p.S1275S|KIF21A_ENST00000361961.3_Silent_p.S1262S	p.S1275S			Q7Z4S6	KI21A_HUMAN			28	4244	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1275					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.3825C>T	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		43	298	0	0	0	1	0	43	298				
TRPM6	140803	broad.mit.edu	37	9	77431663	77431663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77431663C>A	ENST00000360774.1	-	11	1467	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D|TRPM6_ENST00000451710.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	410					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATTTAATTGCTCTGACGCTG	0.368																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1228-1230)gaG>gaT		transient receptor potential cation channel, subfamily M, member 6							114.0	112.0	113.0					9																	77431663		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77431663C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1230G>T	9.37:g.77431663C>A	ENSP00000354006:p.Glu410Asp					TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D|TRPM6_ENST00000360774.1_Missense_Mutation_p.E410D	p.E410D			Q9BX84	TRPM6_HUMAN			11	1467	-			410					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1230G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278271	0.05679	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.68	-1.39	0.08997	.	0.205802	0.52532	D	0.000073	T	0.24890	0.0604	N	0.02213	-0.635	0.35799	D	0.822992	B;B;B;B	0.12013	0.001;0.003;0.005;0.001	B;B;B;B	0.15484	0.002;0.002;0.013;0.008	T	0.30621	-0.9972	10	0.02654	T	1	.	0.3834	0.00398	0.1901:0.2448:0.2043:0.3608	.	410;410;410;405	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	D	410;410;410;410;405;405;410;73;73	ENSP00000354006:E410D;ENSP00000407341:E410D;ENSP00000366068:E410D;ENSP00000366067:E410D;ENSP00000396672:E405D;ENSP00000354962:E405D;ENSP00000366060:E410D	ENSP00000309693:E73D	E	-	3	2	TRPM6	76621483	0.992000	0.36948	1.000000	0.80357	0.813000	0.45954	0.289000	0.18957	0.127000	0.18452	-0.378000	0.06908	GAG		0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		68	338	1	0	9.07738e-34	1	1.07712e-33	68	338				
GCFC2	6936	broad.mit.edu	37	2	75917768	75917768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75917768G>A	ENST00000321027.3	-	8	1355	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Nonsense_Mutation_p.R370*|MRPL19_ENST00000358788.6_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	408					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										AGGTACCTTCGAGATTCAATC	0.313																																						ENST00000321027.3																			0											c.(1222-1224)Cga>Tga		GC-rich sequence DNA-binding factor 2							78.0	85.0	82.0					2																	75917768		2203	4294	6497	SO:0001587	stop_gained	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75917768G>A	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1222C>T	2.37:g.75917768G>A	ENSP00000318690:p.Arg408*					GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Nonsense_Mutation_p.R370*|MRPL19_ENST00000358788.6_3'UTR	p.R408*	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN			8	1355	-			408					A4UHQ8|O95032|Q53TY0|Q6P2F2	Nonsense_Mutation	SNP	ENST00000321027.3	37	c.1222C>T	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	G	37	6.324182	0.97476	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	.	.	.	4.62	4.62	0.57501	.	0.501568	0.19266	N	0.118559	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9164	0.47139	0.0:0.0:0.812:0.188	.	.	.	.	X	408;370	.	ENSP00000318690:R408X	R	-	1	2	C2orf3	75771276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.102000	0.50291	2.497000	0.84241	0.555000	0.69702	CGA		0.313	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		15	358	0	0	0	1	0	15	358				
SERPINB9	5272	broad.mit.edu	37	6	2896327	2896327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2896327G>A	ENST00000380698.4	-	3	355	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	89					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGCCTGTTGGCCGTTCTCAG	0.443																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(265-267)gCc>gTc		serpin peptidase inhibitor, clade B (ovalbumin), member 9							100.0	98.0	99.0					6																	2896327		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2896327G>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.266C>T	6.37:g.2896327G>A	ENSP00000370074:p.Ala89Val						p.A89V	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			3	355	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	89					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.266C>T	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204303	0.79127	.	.	ENSG00000170542	ENST00000380698	D	0.87029	-2.2	4.21	4.21	0.49690	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	M	0.81614	2.55	0.80722	D	1	D	0.63046	0.992	P	0.52454	0.699	D	0.90084	0.4172	10	0.54805	T	0.06	.	15.6929	0.77469	0.0:0.0:1.0:0.0	.	89	P50453	SPB9_HUMAN	V	89	ENSP00000370074:A89V	ENSP00000370074:A89V	A	-	2	0	SERPINB9	2841326	1.000000	0.71417	0.996000	0.52242	0.364000	0.29643	8.832000	0.92079	2.342000	0.79632	0.655000	0.94253	GCC		0.443	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			66	300	0	0	0	1	0	66	300				
BMP15	9210	broad.mit.edu	37	X	50659581	50659581	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50659581A>G	ENST00000252677.3	+	2	1153	c.1153A>G	c.(1153-1155)Att>Gtt	p.I385V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	385					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TGAGGGTATGATTGCTGAGTC	0.443																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(1153-1155)Att>Gtt		bone morphogenetic protein 15							108.0	99.0	102.0					X																	50659581		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659581A>G	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1153A>G	X.37:g.50659581A>G	ENSP00000252677:p.Ile385Val						p.I385V	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	1153	+	Ovarian(276;0.236)		385					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.1153A>G	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	a	7.189	0.591080	0.13812	.	.	ENSG00000130385	ENST00000252677	D	0.83419	-1.72	5.58	4.43	0.53597	Transforming growth factor-beta, C-terminal (3);	0.231421	0.45361	D	0.000375	T	0.62696	0.2449	N	0.12663	0.25	0.47441	D	0.999426	B	0.31769	0.339	B	0.32624	0.149	T	0.61787	-0.6991	10	0.02654	T	1	.	8.0656	0.30659	0.9042:0.0:0.0958:0.0	.	385	O95972	BMP15_HUMAN	V	385	ENSP00000252677:I385V	ENSP00000252677:I385V	I	+	1	0	BMP15	50676321	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	1.689000	0.37700	1.876000	0.54355	0.481000	0.45027	ATT		0.443	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		18	545	0	0	0	1	0	18	545				
LAMA3	3909	broad.mit.edu	37	18	21529773	21529773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21529773G>A	ENST00000313654.9	+	71	9637	c.9396G>A	c.(9394-9396)caG>caA	p.Q3132Q	LAMA3_ENST00000399516.3_Silent_p.Q3076Q|LAMA3_ENST00000587184.1_Silent_p.Q1467Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Silent_p.Q1523Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3132	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGAACTTTCAGCTGGATTCAA	0.473																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(9394-9396)caG>caA		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						81.0	82.0	81.0					18																	21529773		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21529773G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9396G>A	18.37:g.21529773G>A						LAMA3_ENST00000399516.3_Silent_p.Q3076Q|LAMA3_ENST00000269217.6_Silent_p.Q1523Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q1467Q	p.Q3132Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			71	9637	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		3132			Laminin G-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.9396G>A	CCDS42419.1																																																																																				0.473	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		51	264	0	0	0	1	0	51	264				
ITGAE	3682	broad.mit.edu	37	17	3646868	3646868	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3646868C>T	ENST00000263087.4	-	19	2461	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	788					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGGTAGCTGACTTTGAC	0.577																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2362-2364)aGc>aAc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							204.0	174.0	184.0					17																	3646868		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3646868C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2363G>A	17.37:g.3646868C>T	ENSP00000263087:p.Ser788Asn						p.S788N	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	19	2461	-			788					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2363G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307908	0.01342	.	.	ENSG00000083457	ENST00000263087	T	0.40225	1.04	4.9	0.389	0.16269	Integrin alpha-2 (1);	.	.	.	.	T	0.30572	0.0769	M	0.66939	2.045	0.24812	N	0.992634	B	0.28419	0.211	B	0.28465	0.09	T	0.36648	-0.9739	9	0.02654	T	1	.	3.6759	0.08291	0.1588:0.4428:0.3085:0.0899	.	788	P38570	ITAE_HUMAN	N	788	ENSP00000263087:S788N	ENSP00000263087:S788N	S	-	2	0	ITGAE	3593617	0.953000	0.32496	0.998000	0.56505	0.100000	0.18952	-0.208000	0.09371	-0.052000	0.13311	-0.178000	0.13098	AGC		0.577	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		153	751	0	0	0	1	0	153	751				
SP2	6668	broad.mit.edu	37	17	45994216	45994216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45994216C>A	ENST00000376741.4	+	3	916	c.779C>A	c.(778-780)gCt>gAt	p.A260D	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	260					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCCCCTGTGGCTGTGGCTGAG	0.592																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(778-780)gCt>gAt		Sp2 transcription factor							103.0	109.0	107.0					17																	45994216		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994216C>A		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.779C>A	17.37:g.45994216C>A	ENSP00000365931:p.Ala260Asp					AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	p.A260D	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	916	+			260					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.779C>A	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613810	0.87359	.	.	ENSG00000167182	ENST00000376741	T	0.10477	2.87	5.31	5.31	0.75309	.	0.123853	0.56097	D	0.000039	T	0.16085	0.0387	L	0.34521	1.04	0.54753	D	0.999987	D	0.60575	0.988	P	0.51657	0.676	T	0.01440	-1.1354	10	0.30078	T	0.28	.	17.9058	0.88918	0.0:1.0:0.0:0.0	.	260	Q02086	SP2_HUMAN	D	260	ENSP00000365931:A260D	ENSP00000365931:A260D	A	+	2	0	SP2	43349215	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.424000	0.59868	2.768000	0.95171	0.467000	0.42956	GCT		0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		151	728	1	0	2.64144e-59	1	3.31638e-59	151	728				
KCNH3	23416	broad.mit.edu	37	12	49943286	49943286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49943286C>T	ENST00000257981.6	+	9	1791	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	511					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTACGCCCGCCGCTTTCTGTA	0.652																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1531-1533)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 3							79.0	70.0	73.0					12																	49943286		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49943286C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1531C>T	12.37:g.49943286C>T	ENSP00000257981:p.Arg511Cys						p.R511C	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			9	1791	+			511					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1531C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897636	0.91962	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.49305	D	0.000155	D	0.98302	0.9437	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.98771	1.0728	10	0.66056	D	0.02	.	15.9387	0.79736	0.0:1.0:0.0:0.0	.	511	Q9ULD8	KCNH3_HUMAN	C	511	ENSP00000257981:R511C	ENSP00000257981:R511C	R	+	1	0	KCNH3	48229553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.879000	0.56138	2.719000	0.93026	0.655000	0.94253	CGC		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		128	307	0	0	0	1	0	128	307				
NRK	203447	broad.mit.edu	37	X	105187998	105187998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105187998G>A	ENST00000243300.9	+	24	4327	c.4024G>A	c.(4024-4026)Gca>Aca	p.A1342T	NRK_ENST00000428173.2_Missense_Mutation_p.A1343T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1342	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTATGCATGGGCACCAAAGTC	0.318										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(4027-4029)Gca>Aca		Nik related kinase							120.0	98.0	105.0					X																	105187998		1847	4087	5934	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105187998G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4024G>A	X.37:g.105187998G>A	ENSP00000434830:p.Ala1342Thr	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.A1342T	p.A1343T			Q7Z2Y5	NRK_HUMAN			24	4330	+			1342			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4027G>A		.	.	.	.	.	.	.	.	.	.	G	16.37	3.104157	0.56291	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04970	3.52;3.52	5.44	4.57	0.56435	Citron-like (2);	0.139426	0.33477	N	0.004877	T	0.11879	0.0289	M	0.71871	2.18	0.80722	D	1	B	0.31769	0.339	B	0.36030	0.216	T	0.01298	-1.1392	10	0.87932	D	0	.	12.2853	0.54789	0.0835:0.0:0.9165:0.0	.	1342	Q7Z2Y5	NRK_HUMAN	T	1342;1343	ENSP00000434830:A1342T;ENSP00000438378:A1343T	ENSP00000434830:A1342T	A	+	1	0	NRK	105074654	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.112000	0.64634	1.060000	0.40578	0.594000	0.82650	GCA		0.318	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		14	26	0	0	0	1	0	14	26				
LRMP	4033	broad.mit.edu	37	12	25232657	25232657	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232657G>T	ENST00000354454.3	+	8	1033	c.204G>T	c.(202-204)gaG>gaT	p.E68D	LRMP_ENST00000547044.1_Missense_Mutation_p.E68D|LRMP_ENST00000548766.1_Missense_Mutation_p.E68D	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	124					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTAAGAAAGAGGAGGATACAA	0.403																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(202-204)gaG>gaT		lymphoid-restricted membrane protein							108.0	105.0	106.0					12																	25232657		2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25232657G>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.204G>T	12.37:g.25232657G>T	ENSP00000346442:p.Glu68Asp					LRMP_ENST00000547044.1_Missense_Mutation_p.E68D|LRMP_ENST00000548766.1_Missense_Mutation_p.E68D	p.E68D	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			8	1033	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		124					A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.204G>T	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625834	0.46840	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000536173;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	4.61	-0.682	0.11339	.	0.705422	0.12924	N	0.427953	T	0.14527	0.0351	M	0.63428	1.95	0.09310	N	1	P	0.38711	0.643	B	0.37833	0.259	T	0.15809	-1.0424	10	0.30078	T	0.28	-2.9977	4.2181	0.10544	0.3862:0.1666:0.4471:0.0	.	124	Q12912	LRMP_HUMAN	D	68;68;68;15;68;68;68	ENSP00000448534:E68D;ENSP00000452116:E68D;ENSP00000346442:E68D;ENSP00000444056:E15D;ENSP00000446496:E68D;ENSP00000450634:E68D;ENSP00000450246:E68D	ENSP00000346442:E68D	E	+	3	2	LRMP	25123924	0.069000	0.21087	0.030000	0.17652	0.010000	0.07245	0.231000	0.17872	0.035000	0.15519	-0.827000	0.03088	GAG		0.403	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		48	270	1	0	2.43468e-25	1	2.79292e-25	48	270				
HINFP	25988	broad.mit.edu	37	11	119004915	119004915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119004915G>A	ENST00000350777.2	+	10	1324	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	421	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTCGCTGAACGAGAGCAGCCT	0.587											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1261-1263)Gag>Aag		histone H4 transcription factor							64.0	65.0	65.0					11																	119004915		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119004915G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1261G>A	11.37:g.119004915G>A	ENSP00000318085:p.Glu421Lys		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_ENST00000527410.1_3'UTR	p.E421K	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			10	1324	+			421			Interaction with NPAT.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1261G>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491058	0.64074	.	.	ENSG00000172273	ENST00000350777	T	0.08896	3.04	5.31	5.31	0.75309	.	0.085034	0.47455	D	0.000228	T	0.06142	0.0159	L	0.29908	0.895	0.80722	D	1	D	0.52996	0.957	B	0.38194	0.267	T	0.34675	-0.9819	10	0.06494	T	0.89	-27.8494	17.3417	0.87298	0.0:0.0:1.0:0.0	.	421	Q9BQA5	HINFP_HUMAN	K	421	ENSP00000318085:E421K	ENSP00000318085:E421K	E	+	1	0	HINFP	118510125	1.000000	0.71417	0.982000	0.44146	0.911000	0.54048	5.614000	0.67695	2.779000	0.95612	0.655000	0.94253	GAG		0.587	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		57	221	0	0	0	1	0	57	221				
LTBP2	4053	broad.mit.edu	37	14	74975656	74975656	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74975656C>T	ENST00000261978.4	-	23	3790		c.e23-1		LTBP2_ENST00000556690.1_Splice_Site	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCATCCACATCTGCAGGGCCA	0.617																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.e23-1		latent transforming growth factor beta binding protein 2							57.0	61.0	60.0					14																	74975656		2203	4300	6503	SO:0001630	splice_region_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975656C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3404-1G>A	14.37:g.74975656C>T						LTBP2_ENST00000556690.1_Splice_Site		NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	23	3790	-								Q99907|Q9NS51	Splice_Site	SNP	ENST00000261978.4	37		CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912648	0.72983	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556206	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9123	0.92490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTBP2	74045409	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.276000	0.78559	2.771000	0.95319	0.561000	0.74099	.		0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	Intron	96	334	0	0	0	1	0	96	334				
APC2	10297	broad.mit.edu	37	19	1466897	1466897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466897C>T	ENST00000535453.1	+	14	5310	c.3597C>T	c.(3595-3597)ccC>ccT	p.P1199P	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.P925P|APC2_ENST00000233607.2_Silent_p.P1199P			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGCTGCCCGACAGCCCCG	0.711																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(3595-3597)ccC>ccT		adenomatosis polyposis coli 2							8.0	8.0	8.0					19																	1466897		2134	4239	6373	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1466897C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3597C>T	19.37:g.1466897C>T						C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.P1199P|APC2_ENST00000238483.4_Silent_p.P925P	p.P1199P			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	5310	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1199			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.3597C>T	CCDS12068.1																																																																																				0.711	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		11	48	0	0	0	1	0	11	48				
PITPNM2	57605	broad.mit.edu	37	12	123481101	123481101	+	Silent	SNP	G	G	A	rs374549059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481101G>A	ENST00000542749.1	-	11	1749	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	PITPNM2_ENST00000320201.4_Silent_p.V562V|PITPNM2_ENST00000392428.1_Silent_p.V283V|PITPNM2_ENST00000280562.5_Silent_p.V562V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	562					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGATGCCCCCGACGCAGTCCC	0.642																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1684-1686)gtC>gtT		phosphatidylinositol transfer protein, membrane-associated 2							34.0	34.0	34.0					12																	123481101		2202	4299	6501	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481101G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1686C>T	12.37:g.123481101G>A						PITPNM2_ENST00000542749.1_Silent_p.V562V|PITPNM2_ENST00000392428.1_Silent_p.V283V|PITPNM2_ENST00000320201.4_Silent_p.V562V	p.V562V			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	12	1891	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		562					Q9P271	Silent	SNP	ENST00000542749.1	37	c.1686C>T	CCDS9242.1																																																																																				0.642	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		16	333	0	0	0	1	0	16	333				
CRAMP1L	57585	broad.mit.edu	37	16	1705257	1705257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1705257A>G	ENST00000397412.3	+	9	1174	c.1075A>G	c.(1075-1077)Atc>Gtc	p.I359V	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.I359V|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_5'Flank			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	359						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTCCAGCCTCATCGAATTCTT	0.532																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(1075-1077)Atc>Gtc		Crm, cramped-like (Drosophila)							113.0	115.0	115.0					16																	1705257		2042	4176	6218	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1705257A>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1075A>G	16.37:g.1705257A>G	ENSP00000380559:p.Ile359Val					LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.I359V|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V	p.I359V			Q96RY5	CRML_HUMAN			9	1174	+			359					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.1075A>G	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354142	0.82243	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	L	0.60455	1.87	0.80722	D	1	P	0.38597	0.639	B	0.33890	0.172	T	0.59573	-0.7429	9	0.72032	D	0.01	-27.0427	13.1975	0.59746	0.8676:0.1324:0.0:0.0	.	359	Q96RY5	CRML_HUMAN	V	359;359;356	.	ENSP00000293925:I359V	I	+	1	0	CRAMP1L	1645258	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.344000	0.79328	2.228000	0.72767	0.533000	0.62120	ATC		0.532	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			9	325	0	0	0	1	0	9	325				
FN1	2335	broad.mit.edu	37	2	216240026	216240026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216240026C>T	ENST00000359671.1	-	37	6060	c.5795G>A	c.(5794-5796)gGc>gAc	p.G1932D	FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D|FN1_ENST00000354785.4_Missense_Mutation_p.G2023D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D|FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D			P02751	FINC_HUMAN	fibronectin 1	1932	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GATGATGTAGCCGGTAATCCT	0.552																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6067-6069)gGc>gAc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						65.0	68.0	67.0					2																	216240026		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216240026C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5795G>A	2.37:g.216240026C>T	ENSP00000352696:p.Gly1932Asp					FN1_ENST00000359671.1_Missense_Mutation_p.G1932D|FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D	p.G2023D			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	38	6437	-		Renal(323;0.127)	1932	V -> A (in Ref. 4; CAD97965/CAD97964).		Connecting strand 3 (CS-3) (V region).		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6068G>A		.	.	.	.	.	.	.	.	.	.	C	26.7	4.765785	0.90020	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.80265	0.4591	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82780	-0.0288	10	0.87932	D	0	.	19.7012	0.96054	0.0:1.0:0.0:0.0	.	1723;1932;1933;2023;1842;1842;1932;1932;1933;1842;1842;2023;1932	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	1842;2023;1932;1842;2023;1933;1932;1932;1932;1932;1932;1842;1933;1842;649;51	ENSP00000394423:G1842D;ENSP00000323534:G2023D;ENSP00000338200:G1932D;ENSP00000350534:G1842D;ENSP00000346839:G2023D;ENSP00000352696:G1932D;ENSP00000265312:G1932D;ENSP00000273049:G1932D;ENSP00000349509:G1932D;ENSP00000410422:G1932D;ENSP00000415018:G1842D;ENSP00000399538:G1933D;ENSP00000348285:G1842D;ENSP00000416139:G649D;ENSP00000392565:G51D	ENSP00000265313:G1933D	G	-	2	0	FN1	215948271	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	6.040000	0.70980	2.637000	0.89404	0.563000	0.77884	GGC		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		20	382	0	0	0	1	0	20	382				
OR5AK2	390181	broad.mit.edu	37	11	56756950	56756950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756950T>G	ENST00000326855.2	+	1	604	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTTGCTCTTTCATGCTCCAA	0.398																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(562-564)Tca>Gca		olfactory receptor, family 5, subfamily AK, member 2							343.0	305.0	318.0					11																	56756950		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756950T>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.562T>G	11.37:g.56756950T>G	ENSP00000322784:p.Ser188Ala						p.S188A	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	604	+			188					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.562T>G	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	T	4.418	0.077324	0.08485	.	.	ENSG00000181273	ENST00000326855	T	0.00235	8.48	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	N	0.003332	T	0.00178	0.0005	L	0.28344	0.845	0.18873	N	0.999986	B	0.27316	0.175	B	0.35727	0.209	T	0.39663	-0.9603	10	0.40728	T	0.16	-11.9562	11.9306	0.52845	0.0:0.0:0.0:1.0	.	188	Q8NH90	O5AK2_HUMAN	A	188	ENSP00000322784:S188A	ENSP00000322784:S188A	S	+	1	0	OR5AK2	56513526	0.007000	0.16637	0.415000	0.26534	0.039000	0.13416	0.623000	0.24447	1.739000	0.51704	0.163000	0.16589	TCA		0.398	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		251	1058	0	0	0	1	0	251	1058				
KIF16B	55614	broad.mit.edu	37	20	16355009	16355009	+	Silent	SNP	G	G	A	rs567987197		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16355009G>A	ENST00000354981.2	-	20	3400	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000378003.2_Silent_p.V307V|KIF16B_ENST00000408042.1_Silent_p.V1081V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1081					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAACACCATCGACCTCATAAA	0.443																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3241-3243)gtC>gtT		kinesin family member 16B							129.0	110.0	116.0					20																	16355009		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16355009G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3243C>T	20.37:g.16355009G>A						KIF16B_ENST00000408042.1_Silent_p.V1081V|KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000378003.2_Silent_p.V307V	p.V1081V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			20	3400	-			1081					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3243C>T	CCDS13122.1																																																																																				0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		70	311	0	0	0	1	0	70	311				
RYR3	6263	broad.mit.edu	37	15	34040438	34040438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34040438C>T	ENST00000389232.4	+	54	8183	c.8113C>T	c.(8113-8115)Cga>Tga	p.R2705*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGAAGCTTCGAAGTGTGTC	0.572																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8113-8115)Cga>Tga		ryanodine receptor 3							65.0	70.0	68.0					15																	34040438		1954	4150	6104	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040438C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8113C>T	15.37:g.34040438C>T	ENSP00000373884:p.Arg2705*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	p.R2705*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	54	8183	+		all_lung(180;7.18e-09)	2705			4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.8113C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	50	16.492308	0.99864	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	.	.	.	X	2705	.	ENSP00000354735:R2705X	R	+	1	2	RYR3	31827730	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	4.110000	0.57831	2.679000	0.91253	0.655000	0.94253	CGA		0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			29	170	0	0	0	1	0	29	170				
CEP95	90799	broad.mit.edu	37	17	62518874	62518874	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62518874T>C	ENST00000556440.2	+	8	1280	c.770T>C	c.(769-771)aTc>aCc	p.I257T	CEP95_ENST00000553412.1_Missense_Mutation_p.I93T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	257						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GGGGAGCCTATCCGAGCAGCT	0.468																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(769-771)aTc>aCc		centrosomal protein 95kDa							90.0	90.0	90.0					17																	62518874		1894	4115	6009	SO:0001583	missense	90799					centrosome|spindle pole	protein binding	g.chr17:62518874T>C	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.770T>C	17.37:g.62518874T>C	ENSP00000450461:p.Ile257Thr					CEP95_ENST00000553412.1_Missense_Mutation_p.I93T	p.I257T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			8	1280	+			257					B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.770T>C	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.740897	0.69304	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.50001	0.76;0.76	5.73	5.73	0.89815	.	0.151535	0.50627	D	0.000119	T	0.65801	0.2726	M	0.68952	2.095	0.38261	D	0.941871	D	0.76494	0.999	D	0.67382	0.951	T	0.72343	-0.4322	10	0.87932	D	0	-8.3178	14.5846	0.68315	0.0:0.0:0.0:1.0	.	257	Q96GE4	CEP95_HUMAN	T	192;257;93	ENSP00000450461:I257T;ENSP00000450906:I93T	ENSP00000438458:I192T	I	+	2	0	CEP95	59949336	0.998000	0.40836	0.819000	0.32651	0.488000	0.33401	5.430000	0.66501	2.191000	0.70037	0.482000	0.46254	ATC		0.468	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		56	253	0	0	0	1	0	56	253				
ALX1	8092	broad.mit.edu	37	12	85695100	85695100	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85695100C>A	ENST00000316824.3	+	4	983	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	276					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)	p.P276P(1)		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)		GCCACGTGCCCCTCAACAATT	0.478																																						ENST00000316824.3																			1	Substitution - coding silent(1)	p.P276P(1)	lung(1)	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.(826-828)ccC>ccA		ALX homeobox 1							113.0	109.0	110.0					12																	85695100		2203	4299	6502	SO:0001819	synonymous_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.chr12:85695100C>A	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.828C>A	12.37:g.85695100C>A							p.P276P	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	983	+			276					Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.828C>A	CCDS9028.1																																																																																				0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		40	500	1	0	1.76056e-25	1	2.02043e-25	40	500				
NYAP2	57624	broad.mit.edu	37	2	226516173	226516173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226516173C>T	ENST00000272907.6	+	6	2267	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	618					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCAAATTAGGCCGGTCTGCGT	0.488																																						ENST00000272907.6																			0											c.(1852-1854)ggC>ggT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							176.0	175.0	175.0					2																	226516173		2108	4239	6347	SO:0001819	synonymous_variant	57624							g.chr2:226516173C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1854C>T	2.37:g.226516173C>T							p.G618G	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			6	2267	+			618					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1854C>T	CCDS46529.1																																																																																				0.488	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		155	761	0	0	0	1	0	155	761				
GRIPAP1	56850	broad.mit.edu	37	X	48840196	48840196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48840196C>T	ENST00000376441.1	-	15	1297	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	GRIPAP1_ENST00000376444.3_Silent_p.E376E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Silent_p.E390E|GRIPAP1_ENST00000376423.4_Silent_p.E368E	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	421						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCTTCCGAGCCTCCTGTAATT	0.517																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(1102-1104)gaG>gaA		GRIP1 associated protein 1							240.0	174.0	196.0					X																	48840196		2203	4300	6503	SO:0001819	synonymous_variant	56850					early endosome		g.chrX:48840196C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1263G>A	X.37:g.48840196C>T						GRIPAP1_ENST00000376441.1_Silent_p.E421E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Silent_p.E390E|GRIPAP1_ENST00000376444.3_Silent_p.E376E	p.E368E	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			14	1136	-			421					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	ENST00000376441.1	37	c.1104G>A	CCDS35248.1																																																																																				0.517	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		97	394	0	0	0	1	0	97	394				
ARHGEF37	389337	broad.mit.edu	37	5	149006812	149006812	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006812C>A	ENST00000333677.6	+	11	1801	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCAACAGCGGCCGCTGGCTGG	0.607																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1636-1638)ggC>ggA		Rho guanine nucleotide exchange factor (GEF) 37							63.0	75.0	71.0					5																	149006812		2048	4171	6219	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149006812C>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1638C>A	5.37:g.149006812C>A							p.G546G	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			11	1801	+			546			SH3 1.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.1638C>A	CCDS43385.1																																																																																				0.607	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		15	574	1	0	1.05317e-09	1	1.11087e-09	15	574				
CHRM5	1133	broad.mit.edu	37	15	34355722	34355722	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355722G>T	ENST00000383263.5	+	3	1474	c.804G>T	c.(802-804)caG>caT	p.Q268H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	268					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AAAGGAACCAGGCCTCCTGGT	0.612																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(802-804)caG>caT		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						52.0	52.0	52.0					15																	34355722		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355722G>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.804G>T	15.37:g.34355722G>T	ENSP00000372750:p.Gln268His					CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	p.Q268H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1474	+		all_lung(180;1.76e-08)	268					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.804G>T	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195375	0.09599	.	.	ENSG00000184984	ENST00000383263	T	0.61980	0.06	5.42	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.538533	0.19932	N	0.102821	T	0.55893	0.1949	M	0.65498	2.005	0.42048	D	0.991109	B	0.10296	0.003	B	0.12156	0.007	T	0.51092	-0.8749	10	0.54805	T	0.06	-2.3311	7.9424	0.29965	0.1768:0.1361:0.6871:0.0	.	268	P08912	ACM5_HUMAN	H	268	ENSP00000372750:Q268H	ENSP00000372750:Q268H	Q	+	3	2	CHRM5	32143014	1.000000	0.71417	0.663000	0.29738	0.146000	0.21551	0.908000	0.28545	0.051000	0.15978	0.650000	0.86243	CAG		0.612	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			81	370	1	0	1.25089e-41	1	1.52034e-41	81	370				
ANKRD22	118932	broad.mit.edu	37	10	90583062	90583062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90583062C>T	ENST00000371930.4	-	5	683	c.473G>A	c.(472-474)cGt>cAt	p.R158H	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	158										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		GGGGTCTGCACGGGCTTCCAA	0.463																																						ENST00000371930.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(472-474)cGt>cAt		ankyrin repeat domain 22							110.0	111.0	111.0					10																	90583062		2203	4300	6503	SO:0001583	missense	118932							g.chr10:90583062C>T	BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.473G>A	10.37:g.90583062C>T	ENSP00000360998:p.Arg158His					ANKRD22_ENST00000476963.1_5'UTR	p.R158H	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)	5	683	-		Colorectal(252;0.0163)	158					B2R9Y7|Q8WU06	Missense_Mutation	SNP	ENST00000371930.4	37	c.473G>A	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	9.470	1.095487	0.20471	.	.	ENSG00000152766	ENST00000371930	T	0.53206	0.63	5.57	-3.61	0.04556	Ankyrin repeat-containing domain (4);	0.758317	0.13380	N	0.392249	T	0.28665	0.0710	N	0.17594	0.5	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.10776	-1.0615	10	0.49607	T	0.09	-0.0029	12.4555	0.55702	0.0:0.4531:0.0:0.5469	.	158	Q5VYY1	ANR22_HUMAN	H	158	ENSP00000360998:R158H	ENSP00000360998:R158H	R	-	2	0	ANKRD22	90573042	0.226000	0.23696	0.327000	0.25402	0.421000	0.31385	-0.047000	0.11963	-0.922000	0.03789	-1.044000	0.02363	CGT		0.463	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590		21	418	0	0	0	1	0	21	418				
APOF	319	broad.mit.edu	37	12	56755257	56755257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56755257G>A	ENST00000398189.3	-	2	810	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	APOF_ENST00000541105.1_Missense_Mutation_p.L227F|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	245					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCAGGTTTAAGTGCAGCACTG	0.527																																						ENST00000398189.3																			0				breast(1)|lung(3)|prostate(1)|stomach(1)	6						c.(733-735)Ctt>Ttt		apolipoprotein F							95.0	94.0	95.0					12																	56755257		1965	4162	6127	SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755257G>A	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.733C>T	12.37:g.56755257G>A	ENSP00000381250:p.Leu245Phe					APOF_ENST00000541105.1_Missense_Mutation_p.L227F	p.L245F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN			2	810	-			245					Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	c.733C>T	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302675	0.81136	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.51325	0.71;0.71	5.34	5.34	0.76211	.	0.000000	0.34088	N	0.004277	T	0.66703	0.2816	M	0.62723	1.935	0.42344	D	0.992346	D	0.89917	1.0	D	0.87578	0.998	T	0.68938	-0.5277	10	0.72032	D	0.01	-8.6796	16.355	0.83232	0.0:0.0:1.0:0.0	.	245	Q13790	APOF_HUMAN	F	245;227	ENSP00000381250:L245F;ENSP00000440997:L227F	ENSP00000381250:L245F	L	-	1	0	APOF	55041524	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	3.441000	0.52893	2.677000	0.91161	0.655000	0.94253	CTT		0.527	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			13	327	0	0	0	1	0	13	327				
SSTR5	6755	broad.mit.edu	37	16	1129926	1129926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129926C>T	ENST00000293897.4	+	1	1146	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	353					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCGCACCGCGCCGCAGCCAAC	0.711																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(1057-1059)gCc>gTc		somatostatin receptor 5	Octreotide(DB00104)						13.0	13.0	13.0					16																	1129926		2161	4257	6418	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129926C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1058C>T	16.37:g.1129926C>T	ENSP00000293897:p.Ala353Val					SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V|SSTR5_ENST00000562758.1_Intron	p.A353V	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	1146	+		Hepatocellular(780;0.00369)	353					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.1058C>T	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746364	0.30955	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	2.77	0.32553	.	1.361990	0.04495	U	0.380244	T	0.60314	0.2259	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40905	-0.9538	10	0.23891	T	0.37	.	9.249	0.37543	0.0:0.5594:0.3532:0.0874	.	353	P35346	SSR5_HUMAN	V	353	ENSP00000380680:A353V;ENSP00000293897:A353V	ENSP00000293897:A353V	A	+	2	0	SSTR5	1069927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.008000	0.13197	0.420000	0.25954	0.561000	0.74099	GCC		0.711	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			9	98	0	0	0	1	0	9	98				
ZNF845	91664	broad.mit.edu	37	19	53854630	53854630	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854630G>T	ENST00000595091.1	+	5	921	c.702G>T	c.(700-702)caG>caT	p.Q234H	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q234H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAAACATCAGATAATCCATT	0.373																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(700-702)caG>caT		zinc finger protein 845							90.0	74.0	79.0					19																	53854630		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854630G>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.702G>T	19.37:g.53854630G>T	ENSP00000470005:p.Gln234His					ZNF845_ENST00000595091.1_Missense_Mutation_p.Q234H	p.Q234H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	819	+			234						Missense_Mutation	SNP	ENST00000595091.1	37	c.702G>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	6.730	0.503524	0.12822	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.18502	2.21	2.05	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	L	0.57130	1.785	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.40308	-0.9570	9	0.54805	T	0.06	.	0.3104	0.00287	0.3771:0.1976:0.2259:0.1993	.	234	Q96IR2	ZN845_HUMAN	H	234	ENSP00000388311:Q234H	ENSP00000412086:Q234H	Q	+	3	2	ZNF845	58546442	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	0.337000	0.19841	-0.199000	0.10317	0.205000	0.17691	CAG		0.373	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		74	309	1	0	1.26778e-28	1	1.47706e-28	74	309				
TLN1	7094	broad.mit.edu	37	9	35699410	35699410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35699410A>C	ENST00000314888.9	-	51	7170	c.6817T>G	c.(6817-6819)Tca>Gca	p.S2273A	TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2273					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACGCTTTGAATGTCCTGTC	0.567																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6817-6819)Tca>Gca		talin 1							157.0	126.0	137.0					9																	35699410		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35699410A>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6817T>G	9.37:g.35699410A>C	ENSP00000316029:p.Ser2273Ala					TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	p.S2273A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		51	7170	-	all_epithelial(49;0.167)		2273					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6817T>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.590915	0.86851	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73789	-0.78;-0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	M	0.86953	2.85	0.58432	D	0.999999	P	0.47762	0.9	P	0.54759	0.76	D	0.87951	0.2723	10	0.72032	D	0.01	-6.979	16.1379	0.81502	1.0:0.0:0.0:0.0	.	2273	Q9Y490	TLN1_HUMAN	A	2273;2161	ENSP00000316029:S2273A;ENSP00000442981:S2161A	ENSP00000316029:S2273A	S	-	1	0	TLN1	35689410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.324000	0.96373	2.221000	0.72209	0.529000	0.55759	TCA		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		10	208	0	0	0	1	0	10	208				
TAOK1	57551	broad.mit.edu	37	17	27816730	27816730	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27816730A>G	ENST00000261716.3	+	9	1223	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGTGCCTTATATCACATAGCC	0.348																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(703-705)tAt>tGt		TAO kinase 1							114.0	115.0	115.0					17																	27816730		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27816730A>G	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.704A>G	17.37:g.27816730A>G	ENSP00000261716:p.Tyr235Cys					TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	p.Y235C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		9	1223	+			235			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.704A>G	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483511	0.84854	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.85629	-2.01;-2.01	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.79784	0.993;0.931;0.992	D	0.91184	0.4978	10	0.87932	D	0	.	15.7746	0.78204	1.0:0.0:0.0:0.0	.	235;61;235	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	C	235	ENSP00000261716:Y235C;ENSP00000438819:Y235C	ENSP00000261716:Y235C	Y	+	2	0	TAOK1	24840856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.118000	0.64928	0.383000	0.25322	TAT		0.348	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		82	434	0	0	0	1	0	82	434				
MAN2A1	4124	broad.mit.edu	37	5	109190997	109190997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109190997G>A	ENST00000261483.4	+	20	4185	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1045					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGCCTTGTGACATTCATCT	0.353																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3133-3135)Gac>Aac		mannosidase, alpha, class 2A, member 1							138.0	116.0	124.0					5																	109190997		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109190997G>A		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3133G>A	5.37:g.109190997G>A	ENSP00000261483:p.Asp1045Asn					MAN2A1_ENST00000505313.1_3'UTR	p.D1045N	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	20	4185	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1045					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3133G>A	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283360	0.95489	.	.	ENSG00000112893	ENST00000261483	D	0.82803	-1.65	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.88570	2.965	0.80722	D	1	P	0.50066	0.931	P	0.62649	0.905	D	0.92695	0.6170	10	0.72032	D	0.01	-19.9166	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1045	Q16706	MA2A1_HUMAN	N	1045	ENSP00000261483:D1045N	ENSP00000261483:D1045N	D	+	1	0	MAN2A1	109218896	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.029000	0.88807	2.861000	0.98227	0.655000	0.94253	GAC		0.353	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			34	192	0	0	0	1	0	34	192				
GRIN2A	2903	broad.mit.edu	37	16	9857412	9857412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857412C>T	ENST00000396573.2	-	14	4298	c.3989G>A	c.(3988-3990)aGt>aAt	p.S1330N	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1330					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAGGGGACACTAAACAGGCT	0.547																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3988-3990)aGt>aAt		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						79.0	84.0	82.0					16																	9857412		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857412C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3989G>A	16.37:g.9857412C>T	ENSP00000379818:p.Ser1330Asn					GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N|GRIN2A_ENST00000562109.1_Intron	p.S1330N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4298	-			1330					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3989G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.754	0.323454	0.10900	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.10763	2.84;2.84;2.84	5.47	5.47	0.80525	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.264128	0.48767	D	0.000168	T	0.07098	0.0180	N	0.13043	0.29	0.51233	D	0.999914	B	0.02656	0.0	B	0.10450	0.005	T	0.38650	-0.9651	9	.	.	.	.	13.692	0.62550	0.1541:0.8459:0.0:0.0	.	1330	Q12879	NMDE1_HUMAN	N	1330	ENSP00000379818:S1330N;ENSP00000332549:S1330N;ENSP00000379820:S1330N	.	S	-	2	0	GRIN2A	9764913	0.865000	0.29922	0.070000	0.20053	0.918000	0.54935	1.631000	0.37092	2.741000	0.93983	0.650000	0.86243	AGT		0.547	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			115	445	0	0	0	1	0	115	445				
PKP1	5317	broad.mit.edu	37	1	201252867	201252867	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201252867G>A	ENST00000352845.3	+	1	37	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	PKP1_ENST00000263946.3_Missense_Mutation_p.E13K|PKP1_ENST00000367324.3_Missense_Mutation_p.E13K			Q13835	PKP1_HUMAN	plakophilin 1	13					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTGGCGTACGAATGCTTCCA	0.652																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(37-39)Gaa>Aaa		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							86.0	67.0	74.0					1																	201252867		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201252867G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.37G>A	1.37:g.201252867G>A	ENSP00000295597:p.Glu13Lys					PKP1_ENST00000367324.3_Missense_Mutation_p.E13K|PKP1_ENST00000352845.3_Missense_Mutation_p.E13K	p.E13K	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			1	288	+			13					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.37G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109651	0.94292	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.61742	0.08;0.08;0.08	5.01	5.01	0.66863	.	3.864160	0.01113	N	0.005600	T	0.71787	0.3381	L	0.27053	0.805	0.42555	D	0.993128	D;D	0.89917	0.999;1.0	D;D	0.75484	0.982;0.986	T	0.56768	-0.7924	10	0.66056	D	0.02	-10.1207	16.4971	0.84248	0.0:0.0:1.0:0.0	.	13;13	Q13835-2;Q13835	.;PKP1_HUMAN	K	13	ENSP00000356293:E13K;ENSP00000263946:E13K;ENSP00000295597:E13K	ENSP00000263946:E13K	E	+	1	0	PKP1	199519490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.057000	0.71119	2.324000	0.78689	0.655000	0.94253	GAA		0.652	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		52	149	0	0	0	1	0	52	149				
GFM1	85476	broad.mit.edu	37	3	158399842	158399842	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158399842G>T	ENST00000486715.1	+	14	2017	c.1660G>T	c.(1660-1662)Ggt>Tgt	p.G554C	GFM1_ENST00000264263.5_Missense_Mutation_p.G573C|GFM1_ENST00000478576.1_Missense_Mutation_p.G554C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAAAGTAATAGGTGTCCTGGA	0.383																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(1660-1662)Ggt>Tgt		G elongation factor, mitochondrial 1							54.0	54.0	54.0					3																	158399842		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158399842G>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1660G>T	3.37:g.158399842G>T	ENSP00000419038:p.Gly554Cys					GFM1_ENST00000264263.5_Missense_Mutation_p.G573C|GFM1_ENST00000478576.1_Missense_Mutation_p.G554C	p.G554C	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		14	2017	+			554						Missense_Mutation	SNP	ENST00000486715.1	37	c.1660G>T	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437298	0.83885	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.30182	1.54;1.54;1.54	6.03	5.15	0.70609	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69684	-0.5079	10	0.72032	D	0.01	-22.9342	15.4147	0.74956	0.0664:0.0:0.9336:0.0	.	573;554;554	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	554;554;573	ENSP00000419038:G554C;ENSP00000418755:G554C;ENSP00000264263:G573C	ENSP00000264263:G573C	G	+	1	0	GFM1	159882536	1.000000	0.71417	0.945000	0.38365	0.981000	0.71138	9.461000	0.97646	1.561000	0.49584	0.655000	0.94253	GGT		0.383	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		8	200	1	0	7.48243e-07	1	7.73841e-07	8	200				
HTR3E	285242	broad.mit.edu	37	3	183822576	183822576	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183822576A>G	ENST00000415389.2	+	5	857	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	HTR3E_ENST00000436361.2_Splice_Site_p.M131V|HTR3E_ENST00000335304.2_Splice_Site_p.M146V|HTR3E_ENST00000440596.2_Splice_Site_p.M157V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Splice_Site_p.M116V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	131					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTCCTCCAGCATGGATGTGGA	0.438																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.e5-1		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic							103.0	96.0	98.0					3																	183822576		2203	4300	6503	SO:0001630	splice_region_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183822576A>G	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.390-1A>G	3.37:g.183822576A>G						HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Splice_Site_p.M146_splice|HTR3E_ENST00000425359.2_Splice_Site_p.M116_splice|HTR3E_ENST00000436361.2_Splice_Site_p.M131_splice|HTR3E_ENST00000440596.2_Splice_Site_p.M157_splice	p.M131_splice	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	857	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		131					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Splice_Site	SNP	ENST00000415389.2	37	c.389_splice	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.378657	0.01204	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.01	3.29	2.12	0.27331	Neurotransmitter-gated ion-channel ligand-binding (3);	0.329657	0.24405	U	0.038803	T	0.58366	0.2117	L	0.28192	0.835	0.23506	N	0.997531	B;B;B;B;B	0.17038	0.003;0.003;0.02;0.02;0.002	B;B;B;B;B	0.16289	0.008;0.01;0.015;0.015;0.006	T	0.34900	-0.9810	10	0.11485	T	0.65	.	6.6043	0.22716	0.8775:0.0:0.1225:0.0	.	157;131;131;146;116	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	131;116;146;60;131;157	ENSP00000401444:M131V;ENSP00000401900:M116V;ENSP00000335511:M146V;ENSP00000391254:M60V;ENSP00000395833:M131V;ENSP00000406050:M157V	ENSP00000335511:M146V	M	+	1	0	HTR3E	185305270	0.379000	0.25123	0.070000	0.20053	0.227000	0.25037	0.614000	0.24314	0.479000	0.27511	-0.326000	0.08463	ATG		0.438	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	Missense_Mutation	17	384	0	0	0	1	0	17	384				
TAOK2	9344	broad.mit.edu	37	16	29989137	29989137	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29989137T>C	ENST00000308893.4	+	2	1087	c.44T>C	c.(43-45)gTg>gCg	p.V15A	TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A|TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	15					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACCCAGATGTGGCTGAGCTC	0.612																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(43-45)gTg>gCg		TAO kinase 2							42.0	46.0	45.0					16																	29989137		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29989137T>C	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.44T>C	16.37:g.29989137T>C	ENSP00000310094:p.Val15Ala					TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A|TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A	p.V15A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			2	1087	+			15					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.44T>C	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900361	0.72754	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71698	-0.59;-0.49;-0.55	5.35	5.35	0.76521	.	0.064535	0.64402	D	0.000011	T	0.66799	0.2826	L	0.34521	1.04	0.80722	D	1	P;B;B;P	0.37038	0.579;0.169;0.105;0.579	B;B;B;P	0.44811	0.361;0.241;0.121;0.461	T	0.64343	-0.6430	9	.	.	.	.	14.6093	0.68504	0.0:0.0:0.0:1.0	.	199;15;15;15	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	A	15	ENSP00000310094:V15A;ENSP00000440336:V15A;ENSP00000279394:V15A	.	V	+	2	0	TAOK2	29896638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	2.155000	0.67459	0.533000	0.62120	GTG		0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		73	304	0	0	0	1	0	73	304				
EPB41L5	57669	broad.mit.edu	37	2	120903862	120903862	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120903862A>G	ENST00000263713.5	+	20	2004	c.1790A>G	c.(1789-1791)aAc>aGc	p.N597S	EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	597					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GCTGCCACAAACAGGTACAGT	0.318																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1789-1791)aAc>aGc		erythrocyte membrane protein band 4.1 like 5							53.0	54.0	54.0					2																	120903862		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120903862A>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1790A>G	2.37:g.120903862A>G	ENSP00000263713:p.Asn597Ser					EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	p.N597S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			20	2004	+			597					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1790A>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	7.201	0.593401	0.13875	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	T;T;T	0.80738	-1.4;-1.41;-1.4	4.9	2.35	0.29111	.	0.412471	0.25132	N	0.032889	T	0.68403	0.2997	L	0.46157	1.445	0.26220	N	0.979165	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.51252	-0.8729	10	0.20519	T	0.43	.	4.7015	0.12828	0.7389:0.0:0.0943:0.1668	.	597;597;597	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	S	597	ENSP00000263713:N597S;ENSP00000393856:N597S;ENSP00000390439:N597S	ENSP00000263713:N597S	N	+	2	0	EPB41L5	120620332	0.825000	0.29262	0.974000	0.42286	0.797000	0.45037	0.573000	0.23699	0.359000	0.24239	0.397000	0.26171	AAC		0.318	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		8	140	0	0	0	1	0	8	140				
PTPRT	11122	broad.mit.edu	37	20	40827933	40827933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827933G>A	ENST00000373187.1	-	16	2437	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V	PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A832V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	813					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTGCGGCTGGCGCTGAGCTT	0.572																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2503-2505)gCc>gTc		protein tyrosine phosphatase, receptor type, T							233.0	241.0	238.0					20																	40827933		2052	4202	6254	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827933G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2438C>T	20.37:g.40827933G>A	ENSP00000362283:p.Ala813Val					PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A813V	p.A835V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2739	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	813					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2504C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886738	0.51908	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35048	1.36;1.36;1.35;1.35;1.35;1.33;1.33	6.03	4.09	0.47781	.	0.964896	0.08646	N	0.914735	T	0.29524	0.0736	N	0.22421	0.69	0.22199	N	0.999295	B;B	0.21821	0.061;0.021	B;B	0.22152	0.038;0.017	T	0.30208	-0.9986	10	0.52906	T	0.07	.	12.3664	0.55230	0.1346:0.0:0.8654:0.0	.	835;813	O14522-1;O14522	.;PTPRT_HUMAN	V	813;813;816;822;835;803;803	ENSP00000362286:A813V;ENSP00000362283:A813V;ENSP00000362289:A816V;ENSP00000348408:A822V;ENSP00000362294:A835V;ENSP00000362280:A803V;ENSP00000362297:A803V	ENSP00000348408:A822V	A	-	2	0	PTPRT	40261347	1.000000	0.71417	0.625000	0.29200	0.909000	0.53808	5.046000	0.64226	0.884000	0.36064	0.655000	0.94253	GCC		0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			180	1517	0	0	0	1	0	180	1517				
LAMA5	3911	broad.mit.edu	37	20	60895841	60895841	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60895841G>T	ENST00000252999.3	-	49	6668	c.6602C>A	c.(6601-6603)gCc>gAc	p.A2201D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2201	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACGGGCCCAGGCCATGGAGCT	0.667																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6601-6603)gCc>gAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						48.0	42.0	44.0					20																	60895841		2181	4279	6460	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895841G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6602C>A	20.37:g.60895841G>T	ENSP00000252999:p.Ala2201Asp						p.A2201D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		49	6668	-	Breast(26;1.57e-08)		2201			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6602C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	20.4	3.990041	0.74589	.	.	ENSG00000130702	ENST00000252999	T	0.12255	2.7	4.53	3.57	0.40892	Laminin I (1);	0.109081	0.64402	D	0.000008	T	0.30603	0.0770	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.03175	-1.1064	10	0.72032	D	0.01	.	13.0309	0.58840	0.0797:0.0:0.9203:0.0	.	2201	O15230	LAMA5_HUMAN	D	2201	ENSP00000252999:A2201D	ENSP00000252999:A2201D	A	-	2	0	LAMA5	60329236	1.000000	0.71417	0.988000	0.46212	0.390000	0.30446	6.143000	0.71756	1.119000	0.41883	0.537000	0.68136	GCC		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		50	227	1	0	6.08268e-21	1	6.83416e-21	50	227				
TTF1	7270	broad.mit.edu	37	9	135277105	135277105	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277105C>T	ENST00000334270.2	-	2	1143	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	368					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTCCACAGTCCCAACCTCAC	0.483																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1102-1104)ggG>ggA		transcription termination factor, RNA polymerase I							181.0	156.0	164.0					9																	135277105		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277105C>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1104G>A	9.37:g.135277105C>T							p.G368G	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1143	-		Myeloproliferative disorder(178;0.204)	368					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1104G>A	CCDS6948.1																																																																																				0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		144	653	0	0	0	1	0	144	653				
CEP170P1	645455	broad.mit.edu	37	4	119472291	119472291	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119472291C>T	ENST00000412784.2	+	0	588					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										AATTAAGAGCCGAAAGTGAAG	0.274																																						ENST00000412784.2																			0																																																			0							g.chr4:119472291C>T	BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119472291C>T								NR_003135.2						0	588	+									RNA	SNP	ENST00000412784.2	37																																																																																						0.274	CEP170P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000364033.2	NR_003135.2		10	69	0	0	0	1	0	10	69				
PCDH18	54510	broad.mit.edu	37	4	138442595	138442595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138442595G>A	ENST00000344876.4	-	4	3382	c.2996C>T	c.(2995-2997)aCc>aTc	p.T999I	PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I|PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	999	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGATGTGCTGGTATCCCCAGT	0.517																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2995-2997)aCc>aTc		protocadherin 18							88.0	76.0	80.0					4																	138442595		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442595G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2996C>T	4.37:g.138442595G>A	ENSP00000355082:p.Thr999Ile					PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I|PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I	p.T999I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3382	-	all_hematologic(180;0.24)		999			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2996C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	4.669	0.124348	0.08931	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.53640	0.7;0.7;0.61;1.54;1.53	4.97	2.2	0.27929	.	0.818812	0.10144	N	0.710525	T	0.34745	0.0908	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.16396	0.017;0.001;0.001;0.001	B;B;B;B	0.15484	0.013;0.003;0.005;0.004	T	0.26643	-1.0097	10	0.38643	T	0.18	.	5.217	0.15348	0.0705:0.1278:0.5378:0.2639	.	179;778;998;999	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	I	999;998;778;210;179	ENSP00000355082:T999I;ENSP00000390688:T998I;ENSP00000425903:T778I;ENSP00000424269:T210I;ENSP00000425647:T179I	ENSP00000355082:T999I	T	-	2	0	PCDH18	138662045	0.001000	0.12720	0.019000	0.16419	0.673000	0.39480	0.586000	0.23894	0.118000	0.18165	0.655000	0.94253	ACC		0.517	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		70	299	0	0	0	1	0	70	299				
DCDC1	341019	broad.mit.edu	37	11	30942422	30942422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30942422G>A	ENST00000597505.1	-	23	3193	c.3194C>T	c.(3193-3195)cCt>cTt	p.P1065L	DCDC1_ENST00000339794.5_Missense_Mutation_p.P144L|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATTGCTACAGGTTTATGCAC	0.383																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(3193-3195)cCt>cTt		doublecortin domain containing 1							138.0	113.0	121.0					11																	30942422		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30942422G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3194C>T	11.37:g.30942422G>A	ENSP00000472625:p.Pro1065Leu					DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.P144L	p.P1065L			P59894	DCDC1_HUMAN			23	3193	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.3194C>T		.	.	.	.	.	.	.	.	.	.	G	13.95	2.390640	0.42410	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.52	4.61	0.57282	.	0.110346	0.40818	N	0.001020	T	0.56366	0.1980	M	0.72479	2.2	0.36860	D	0.888351	B	0.33748	0.423	B	0.34138	0.176	T	0.63998	-0.6510	9	0.46703	T	0.11	-10.0954	11.4354	0.50064	0.0844:0.0:0.9156:0.0	.	144	Q6ZRR9	DCDC5_HUMAN	L	144	.	ENSP00000341700:P144L	P	-	2	0	DCDC5	30898998	0.740000	0.28207	0.743000	0.31040	0.024000	0.10985	0.966000	0.29331	1.343000	0.45638	0.655000	0.94253	CCT		0.383	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		6	91	0	0	0	1	0	6	91				
HERC2	8924	broad.mit.edu	37	15	28514426	28514426	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28514426C>T	ENST00000261609.7	-	11	1522	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTGTGTACACGCGGCCATTG	0.557																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1414-1416)Gtg>Atg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							88.0	67.0	74.0					15																	28514426		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28514426C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1414G>A	15.37:g.28514426C>T	ENSP00000261609:p.Val472Met						p.V472M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	11	1522	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	472						Missense_Mutation	SNP	ENST00000261609.7	37	c.1414G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272161	0.40194	.	.	ENSG00000128731	ENST00000261609	D	0.85171	-1.95	5.74	5.74	0.90152	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.065567	0.64402	D	0.000013	T	0.80874	0.4707	L	0.59912	1.85	0.51482	D	0.999924	P	0.47910	0.902	B	0.33521	0.165	D	0.84544	0.0640	10	0.87932	D	0	.	15.4685	0.75422	0.0:0.862:0.138:0.0	.	472	O95714	HERC2_HUMAN	M	472	ENSP00000261609:V472M	ENSP00000261609:V472M	V	-	1	0	HERC2	26188021	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.492000	0.66893	2.718000	0.92993	0.650000	0.86243	GTG		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		17	122	0	0	0	1	0	17	122				
GSS	2937	broad.mit.edu	37	20	33523406	33523406	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33523406G>T	ENST00000216951.2	-	9	905	c.807C>A	c.(805-807)ggC>ggA	p.G269G	GSS_ENST00000451957.2_Silent_p.G158G|GSS_ENST00000541098.1_Silent_p.G141G	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	269	Substrate binding.				aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCATGTAGCCATCCCGGA	0.483																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(805-807)ggC>ggA		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						109.0	89.0	95.0					20																	33523406		2203	4300	6503	SO:0001819	synonymous_variant	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33523406G>T		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.807C>A	20.37:g.33523406G>T						GSS_ENST00000541098.1_Silent_p.G141G|GSS_ENST00000451957.2_Silent_p.G158G	p.G269G	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		9	905	-			269			Substrate binding.		B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	c.807C>A	CCDS13245.1																																																																																				0.483	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			54	194	1	0	1.10885e-35	1	1.32494e-35	54	194				
TM7SF3	51768	broad.mit.edu	37	12	27152544	27152544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27152544C>A	ENST00000343028.4	-	3	537	c.312G>T	c.(310-312)gaG>gaT	p.E104D	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	104						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGTACTCTGCTCTGGTCTAA	0.473																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(310-312)gaG>gaT		transmembrane 7 superfamily member 3							155.0	137.0	143.0					12																	27152544		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27152544C>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.312G>T	12.37:g.27152544C>A	ENSP00000342322:p.Glu104Asp					TM7SF3_ENST00000542667.1_5'UTR	p.E104D	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			3	537	-	Colorectal(261;0.0847)		104					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.312G>T	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211589	0.58452	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.31510	1.49	4.41	3.45	0.39498	.	0.339974	0.32868	N	0.005544	T	0.22742	0.0549	L	0.53249	1.67	0.26920	N	0.966702	B	0.18863	0.031	B	0.10450	0.005	T	0.07121	-1.0789	10	0.18710	T	0.47	-13.2613	5.3827	0.16199	0.0:0.6159:0.1763:0.2078	.	104	Q9NS93	TM7S3_HUMAN	D	104;83;109	ENSP00000342322:E104D	ENSP00000342322:E104D	E	-	3	2	TM7SF3	27043811	0.985000	0.35326	1.000000	0.80357	0.981000	0.71138	0.065000	0.14466	2.459000	0.83118	0.655000	0.94253	GAG		0.473	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		65	270	1	0	7.37877e-41	1	8.9561e-41	65	270				
HOOK2	29911	broad.mit.edu	37	19	12874525	12874525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12874525C>A	ENST00000397668.3	-	21	1968	c.1895G>T	c.(1894-1896)aGg>aTg	p.R632M	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.R630M	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	632	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GAGCTGTGTCCTCAGGGAATG	0.597																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1888-1890)aGg>aTg		hook microtubule-tethering protein 2							74.0	83.0	80.0					19																	12874525		2194	4299	6493	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12874525C>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1895G>T	19.37:g.12874525C>A	ENSP00000380785:p.Arg632Met					HOOK2_ENST00000397668.3_Missense_Mutation_p.R632M	p.R630M	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			20	2059	-			632			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1889G>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599770	0.46318	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19250	2.16;2.16	5.72	3.61	0.41365	.	0.109028	0.64402	D	0.000010	T	0.27419	0.0673	M	0.65975	2.015	0.28849	N	0.896173	P;P	0.42203	0.731;0.773	B;P	0.44518	0.323;0.452	T	0.16988	-1.0384	10	0.87932	D	0	-23.7645	10.0714	0.42335	0.0:0.8369:0.0:0.1631	.	630;632	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	632;630	ENSP00000380785:R632M;ENSP00000264827:R630M	ENSP00000264827:R630M	R	-	2	0	HOOK2	12735525	1.000000	0.71417	0.963000	0.40424	0.124000	0.20399	1.053000	0.30442	1.424000	0.47217	0.650000	0.86243	AGG		0.597	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		93	388	1	0	2.62214e-60	1	3.29741e-60	93	388				
ZNF135	7694	broad.mit.edu	37	19	58578888	58578888	+	Nonsense_Mutation	SNP	C	C	T	rs144688815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58578888C>T	ENST00000313434.5	+	5	1137	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.R304*|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	346					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGCATCTGCGAATCCACAC	0.572																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(910-912)Cga>Tga		zinc finger protein 135		C	,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	44.0	46.0		,1072,1072,1108	-0.7	0.7	19	dbSNP_134	46	0,8600		0,0,4300	no	utr-3,stop-gained,stop-gained,stop-gained	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,358/391,358/671,370/683	58578888	1,13005	2203	4300	6503	SO:0001587	stop_gained	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578888C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1036C>T	19.37:g.58578888C>T	ENSP00000321406:p.Arg346*					ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.R346*	p.R304*			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1464	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	358					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Nonsense_Mutation	SNP	ENST00000313434.5	37	c.910C>T		.	.	.	.	.	.	.	.	.	.	C	12.54	1.968279	0.34754	2.27E-4	0.0	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.	.	.	3.19	-0.696	0.11287	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2145	0.01911	0.4005:0.3059:0.1603:0.1332	.	.	.	.	X	358;370;358;346;346;358;304	.	ENSP00000321406:R346X	R	+	1	2	ZNF135	63270700	0.000000	0.05858	0.659000	0.29680	0.005000	0.04900	-0.827000	0.04424	0.167000	0.19631	-0.302000	0.09304	CGA		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		45	212	0	0	0	1	0	45	212				
AIMP1	9255	broad.mit.edu	37	4	107249377	107249377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107249377C>T	ENST00000442366.1	+	4	420	c.368C>T	c.(367-369)gCg>gTg	p.A123V	AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V|AIMP1_ENST00000394701.4_Missense_Mutation_p.A147V	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	123	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GAAAAGAAAGCGAAAGAGAAA	0.328																																						ENST00000394701.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(439-441)gCg>gTg		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							50.0	48.0	48.0					4																	107249377		2202	4300	6502	SO:0001583	missense	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107249377C>T	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.368C>T	4.37:g.107249377C>T	ENSP00000405248:p.Ala123Val					AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V|AIMP1_ENST00000442366.1_Missense_Mutation_p.A123V	p.A147V	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN			4	481	+			123			Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	ENST00000442366.1	37	c.440C>T	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749678	0.30955	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	T;T;T;T	0.24723	1.99;1.84;1.84;1.84	5.07	-1.73	0.08081	.	1.072360	0.07135	N	0.846376	T	0.08891	0.0220	N	0.03281	-0.365	0.23056	N	0.998362	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.29397	-1.0013	10	0.35671	T	0.21	-16.5534	0.4856	0.00555	0.3365:0.2794:0.1302:0.2539	.	123;123	B4DNK3;Q12904	.;AIMP1_HUMAN	V	123;123;123;123;147	ENSP00000423681:A123V;ENSP00000405248:A123V;ENSP00000350699:A123V;ENSP00000378191:A147V	ENSP00000350699:A123V	A	+	2	0	AIMP1	107468826	0.879000	0.30193	0.880000	0.34516	0.577000	0.36160	0.166000	0.16583	0.001000	0.14605	0.655000	0.94253	GCG		0.328	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		10	135	0	0	0	1	0	10	135				
DDX59	83479	broad.mit.edu	37	1	200635738	200635738	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635738G>T	ENST00000331314.6	-	2	344	c.131C>A	c.(130-132)gCt>gAt	p.A44D	DDX59_ENST00000367348.3_Missense_Mutation_p.A44D|DDX59_ENST00000447706.2_Missense_Mutation_p.A44D|RP11-92G12.3_ENST00000568695.1_lincRNA	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	44						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGTAGCTACAGCATCAACGGG	0.483																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(130-132)gCt>gAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							172.0	156.0	162.0					1																	200635738		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635738G>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.131C>A	1.37:g.200635738G>T	ENSP00000330460:p.Ala44Asp					DDX59_ENST00000367348.3_Missense_Mutation_p.A44D|DDX59_ENST00000331314.6_Missense_Mutation_p.A44D	p.A44D			Q5T1V6	DDX59_HUMAN			2	282	-			44					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.131C>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086218	0.07097	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.45668	1.49;1.49;1.86;0.89	4.95	3.05	0.35203	.	0.565466	0.16340	N	0.218736	T	0.27629	0.0679	L	0.43152	1.355	0.09310	N	1	P;B	0.35077	0.483;0.22	B;B	0.27887	0.084;0.058	T	0.10989	-1.0606	10	0.21540	T	0.41	-0.1895	6.7808	0.23643	0.0857:0.0:0.5331:0.3812	.	44;44	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	D	44	ENSP00000394367:A44D;ENSP00000356317:A44D;ENSP00000330460:A44D;ENSP00000391312:A44D	ENSP00000330460:A44D	A	-	2	0	DDX59	198902361	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	0.328000	0.19681	0.494000	0.27859	0.555000	0.69702	GCT		0.483	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		107	501	1	0	4.58063e-37	1	5.49597e-37	107	501				
GRIK5	2901	broad.mit.edu	37	19	42546761	42546761	+	Silent	SNP	G	G	A	rs377765278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42546761G>A	ENST00000262895.3	-	11	1415	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	GRIK5_ENST00000593562.1_Silent_p.Y472Y|GRIK5_ENST00000301218.4_Silent_p.Y472Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	472					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CGGGCGCCCCGTACAGCCCAT	0.677																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1414-1416)taC>taT		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)	G		2,4404	2.1+/-5.4	0,2,2201	43.0	47.0	46.0		1416	-9.7	0.5	19		46	0,8598		0,0,4299	no	coding-synonymous	GRIK5	NM_002088.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		472/981	42546761	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42546761G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1416C>T	19.37:g.42546761G>A						GRIK5_ENST00000593562.1_Silent_p.Y472Y|GRIK5_ENST00000301218.4_Silent_p.Y472Y	p.Y472Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			11	1415	-		Prostate(69;0.059)	472					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.1416C>T	CCDS12595.1																																																																																				0.677	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			86	425	0	0	0	1	0	86	425				
OR4S2	219431	broad.mit.edu	37	11	55418546	55418546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55418546C>T	ENST00000312422.2	+	1	167	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTAAGTCACCCATGTATTTC	0.393																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(166-168)cCc>cTc		olfactory receptor, family 4, subfamily S, member 2							244.0	193.0	211.0					11																	55418546		2181	4046	6227	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418546C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.167C>T	11.37:g.55418546C>T	ENSP00000310337:p.Pro56Leu						p.P56L	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	167	+		all_epithelial(135;0.0748)	56					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.167C>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410657	0.62399	.	.	ENSG00000174982	ENST00000312422	T	0.02032	4.49	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.20047	0.0482	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04961	-1.0915	10	0.87932	D	0	.	17.6575	0.88182	0.0:1.0:0.0:0.0	.	56	Q8NH73	OR4S2_HUMAN	L	56	ENSP00000310337:P56L	ENSP00000310337:P56L	P	+	2	0	OR4S2	55175122	1.000000	0.71417	0.897000	0.35233	0.125000	0.20455	6.636000	0.74299	2.512000	0.84698	0.549000	0.68633	CCC		0.393	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		117	740	0	0	0	1	0	117	740				
AJAP1	55966	broad.mit.edu	37	1	4772744	4772744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772744C>A	ENST00000378191.4	+	2	1195	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	272					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCAAGGATTCTGGGGGAGGC	0.602																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(814-816)Ctg>Atg		adherens junctions associated protein 1							66.0	73.0	71.0					1																	4772744		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772744C>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.814C>A	1.37:g.4772744C>A	ENSP00000367433:p.Leu272Met					AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	p.L272M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1195	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	272					Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.814C>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614309	0.46631	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45668	0.89;0.89	5.14	4.23	0.50019	.	0.583699	0.15838	N	0.242159	T	0.44787	0.1310	L	0.27053	0.805	0.27055	N	0.963683	D	0.64830	0.994	P	0.60682	0.878	T	0.23013	-1.0200	10	0.41790	T	0.15	-3.634	9.2565	0.37586	0.0:0.8999:0.0:0.1001	.	272	Q9UKB5	AJAP1_HUMAN	M	272	ENSP00000367432:L272M;ENSP00000367433:L272M	ENSP00000367432:L272M	L	+	1	2	AJAP1	4672604	0.705000	0.27846	0.994000	0.49952	0.948000	0.59901	1.026000	0.30103	1.149000	0.42402	0.467000	0.42956	CTG		0.602	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		50	517	1	0	9.52127e-25	1	1.09014e-24	50	517				
IGF2BP1	10642	broad.mit.edu	37	17	47115672	47115672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115672C>T	ENST00000290341.3	+	6	878	c.544C>T	c.(544-546)Cct>Tct	p.P182S	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	182					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGGCTCACCTGTGGCAGC	0.652																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(544-546)Cct>Tct		insulin-like growth factor 2 mRNA binding protein 1							23.0	28.0	27.0					17																	47115672		2203	4298	6501	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115672C>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.544C>T	17.37:g.47115672C>T	ENSP00000290341:p.Pro182Ser					IGF2BP1_ENST00000431824.2_Intron	p.P182S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			6	878	+			182					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.544C>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295090	0.60086	.	.	ENSG00000159217	ENST00000290341	T	0.20463	2.07	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.42744	1.35	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.08953	-1.0697	10	0.10377	T	0.69	-6.9982	19.0998	0.93269	0.0:1.0:0.0:0.0	.	182	Q9NZI8	IF2B1_HUMAN	S	182	ENSP00000290341:P182S	ENSP00000290341:P182S	P	+	1	0	IGF2BP1	44470671	1.000000	0.71417	0.693000	0.30195	0.993000	0.82548	6.029000	0.70895	2.585000	0.87301	0.655000	0.94253	CCT		0.652	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		58	233	0	0	0	1	0	58	233				
ZNF417	147687	broad.mit.edu	37	19	58423469	58423469	+	Missense_Mutation	SNP	C	C	T	rs142600905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58423469C>T	ENST00000312026.5	-	2	286	c.122G>A	c.(121-123)cGt>cAt	p.R41H	CTD-2583A14.9_ENST00000602124.1_De_novo_Start_OutOfFrame|ZNF417_ENST00000595559.1_Missense_Mutation_p.R40H|ZNF417_ENST00000536263.1_De_novo_Start_OutOfFrame	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CATCACATCACGGTACAAGCA	0.498																																						ENST00000536263.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18								zinc finger protein 417							69.0	66.0	67.0					19																	58423469		2202	4280	6482	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58423469C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.122G>A	19.37:g.58423469C>T	ENSP00000311319:p.Arg41His					ZNF417_ENST00000312026.5_Missense_Mutation_p.R41H|CTD-2583A14.9_ENST00000602124.1_De_novo_Start_OutOfFrame|ZNF417_ENST00000595559.1_Missense_Mutation_p.R40H				Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	0	478	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)						B4DEU1	Translation_Start_Site	SNP	ENST00000312026.5	37		CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.253167	0.00268	.	.	ENSG00000173480	ENST00000312026	T	0.02737	4.18	1.9	-3.8	0.04307	Krueppel-associated box (4);	.	.	.	.	T	0.02342	0.0072	L	0.47078	1.49	0.09310	N	0.999999	B;B	0.18968	0.011;0.032	B;B	0.09377	0.001;0.004	T	0.48043	-0.9069	9	0.14656	T	0.56	.	4.6262	0.12479	0.1892:0.5379:0.0:0.2729	.	41;41	F5H0M9;Q8TAU3	.;ZN417_HUMAN	H	41	ENSP00000311319:R41H	ENSP00000311319:R41H	R	-	2	0	ZNF417	63115281	0.000000	0.05858	0.000000	0.03702	0.587000	0.36485	-2.412000	0.01039	-1.352000	0.02194	0.305000	0.20034	CGT		0.498	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		95	374	0	0	0	1	0	95	374				
TBC1D29	26083	broad.mit.edu	37	17	28890251	28890251	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28890251T>C	ENST00000580161.1	+	6	2758	c.261T>C	c.(259-261)atT>atC	p.I87I	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000584297.1_Missense_Mutation_p.F71S|TBC1D29_ENST00000579181.1_Silent_p.I87I			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	87							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CCAGACCCATTTGTGAGAGCC	0.622																																						ENST00000584297.1																			0				breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(211-213)tTt>tCt		TBC1 domain family, member 29							24.0	24.0	24.0					17																	28890251		2203	4300	6503	SO:0001819	synonymous_variant	26083					intracellular	Rab GTPase activator activity	g.chr17:28890251T>C	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.261T>C	17.37:g.28890251T>C						TBC1D29_ENST00000580161.1_Silent_p.I87I|TBC1D29_ENST00000579181.1_Silent_p.I87I	p.F71S			Q9UFV1	TBC29_HUMAN			4	361	+		Myeloproliferative disorder(56;0.0255)	0						Missense_Mutation	SNP	ENST00000580161.1	37	c.212T>C	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	5.244	0.230510	0.09969	.	.	ENSG00000197689	ENST00000378698	.	.	.	.	.	.	.	.	.	.	.	T	0.52996	0.1769	.	.	.	0.39079	D	0.96086	.	.	.	.	.	.	T	0.45469	-0.9259	3	0.25751	T	0.34	.	.	.	.	.	.	.	.	S	71	.	ENSP00000367970:F71S	F	+	2	0	TBC1D29	25914377	0.044000	0.20184	0.047000	0.18901	0.047000	0.14425	-0.099000	0.11007	0.093000	0.17368	0.092000	0.15492	TTT		0.622	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		29	98	0	0	0	1	0	29	98				
PPFIBP2	8495	broad.mit.edu	37	11	7654163	7654163	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7654163C>T	ENST00000299492.4	+	12	1522	c.1134C>T	c.(1132-1134)acC>acT	p.T378T	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Silent_p.T266T|PPFIBP2_ENST00000533792.1_Silent_p.T220T|PPFIBP2_ENST00000530181.1_Silent_p.T235T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	378					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CACTGGAAACCAGGTAAGAGG	0.562																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1132-1134)acC>acT		PTPRF interacting protein, binding protein 2 (liprin beta 2)							89.0	75.0	80.0					11																	7654163		2201	4296	6497	SO:0001819	synonymous_variant	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7654163C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1134C>T	11.37:g.7654163C>T						PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Silent_p.T220T|PPFIBP2_ENST00000530181.1_Silent_p.T235T|PPFIBP2_ENST00000528883.1_Silent_p.T266T	p.T378T	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	12	1522	+			378					B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	c.1134C>T	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937398	0.34189	.	.	ENSG00000166387	ENST00000534409	.	.	.	5.35	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2833	6.8839	0.24189	0.3726:0.466:0.1614:0.0	.	.	.	.	X	58	.	.	Q	+	1	0	PPFIBP2	7610739	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.126000	0.31344	1.231000	0.43661	0.561000	0.74099	CAG		0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		23	124	0	0	0	1	0	23	124				
OTX2	5015	broad.mit.edu	37	14	57272168	57272168	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57272168A>G	ENST00000555006.1	-	2	415	c.7T>C	c.(7-9)Tct>Cct	p.S3P	OTX2_ENST00000554788.1_Missense_Mutation_p.S3P|OTX2_ENST00000339475.5_Missense_Mutation_p.S3P|OTX2_ENST00000554559.1_Missense_Mutation_p.S3P|OTX2_ENST00000408990.3_Missense_Mutation_p.S3P			P32243	OTX2_HUMAN	orthodenticle homeobox 2	3					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAGATAAGACATCATGCTA	0.562																																						ENST00000339475.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(7-9)Tct>Cct		orthodenticle homeobox 2							120.0	102.0	108.0					14																	57272168		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57272168A>G	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.7T>C	14.37:g.57272168A>G	ENSP00000452336:p.Ser3Pro					OTX2_ENST00000554559.1_Missense_Mutation_p.S3P|OTX2_ENST00000554788.1_Missense_Mutation_p.S3P|OTX2_ENST00000408990.3_Missense_Mutation_p.S3P|OTX2_ENST00000555006.1_Missense_Mutation_p.S3P	p.S3P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			3	283	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		3					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.7T>C	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028134	0.75390	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000554559;ENST00000555804	D;D;D;D;D	0.92545	-2.94;-2.88;-2.88;-3.06;-3.02	4.35	4.35	0.52113	.	0.000000	0.42294	D	0.000724	D	0.94308	0.8171	M	0.71296	2.17	0.41365	D	0.987455	D;D	0.60160	0.987;0.986	P;P	0.60949	0.828;0.881	D	0.94798	0.7968	10	0.87932	D	0	.	11.81	0.52177	1.0:0.0:0.0:0.0	.	3;3	F1T0D1;P32243	.;OTX2_HUMAN	P	3	ENSP00000343819:S3P;ENSP00000386185:S3P;ENSP00000452336:S3P;ENSP00000451357:S3P;ENSP00000451272:S3P	ENSP00000343819:S3P	S	-	1	0	OTX2	56341921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.559000	0.90708	1.947000	0.56498	0.528000	0.53228	TCT		0.562	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		24	114	0	0	0	1	0	24	114				
USP40	55230	broad.mit.edu	37	2	234407224	234407224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234407224G>T	ENST00000427112.2	-	22	2717	c.2682C>A	c.(2680-2682)tgC>tgA	p.C894*	USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*|USP40_ENST00000251722.6_Nonsense_Mutation_p.C894*|USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	894					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTCATAGCACCAATCCA	0.353																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(2680-2682)tgC>tgA		ubiquitin specific peptidase 40							76.0	70.0	72.0					2																	234407224		1866	4093	5959	SO:0001587	stop_gained	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234407224G>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2682C>A	2.37:g.234407224G>T	ENSP00000387898:p.Cys894*					USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*|USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*|USP40_ENST00000427112.2_Nonsense_Mutation_p.C894*	p.C894*			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	23	2799	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	894					Q6NX38|Q70EL0	Nonsense_Mutation	SNP	ENST00000427112.2	37	c.2682C>A	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.785296|7.785296	0.98489|0.98489	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|.	.|.	.|.	5.14|5.14	1.29|1.29	0.21616|0.21616	.|.	.|0.120079	.|0.85682	.|D	.|0.000000	T|.	0.17152|.	0.0412|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38308|.	-0.9667|.	3|.	.|0.02654	.|T	.|1	.|.	8.245|8.245	0.31682|0.31682	0.3141:0.0:0.6859:0.0|0.3141:0.0:0.6859:0.0	.|.	.|.	.|.	.|.	D|X	70|906;894;894;70	.|.	.|ENSP00000251722:C894X	A|C	-|-	2|3	0|2	USP40|USP40	234071963|234071963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.069000|1.069000	0.30641|0.30641	0.273000|0.273000	0.22049|0.22049	0.555000|0.555000	0.69702|0.69702	GCT|TGC		0.353	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		35	111	1	0	6.5261e-18	1	7.22248e-18	35	111				
SCN2B	6327	broad.mit.edu	37	11	118038968	118038968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118038968G>A	ENST00000278947.5	-	3	521	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	94	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTGAAACCGCTCCAGCTTC	0.542																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(280-282)Cgg>Tgg		sodium channel, voltage-gated, type II, beta subunit							89.0	75.0	80.0					11																	118038968		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118038968G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.280C>T	11.37:g.118038968G>A	ENSP00000278947:p.Arg94Trp						p.R94W	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	3	521	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	94			Ig-like C2-type.		O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.280C>T	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290144	0.80914	.	.	ENSG00000149575	ENST00000278947	T	0.68181	-0.31	4.9	1.91	0.25777	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.174836	0.51477	D	0.000083	T	0.77412	0.4126	M	0.80616	2.505	0.58432	D	0.999999	D	0.71674	0.998	P	0.57502	0.822	T	0.79600	-0.1736	10	0.62326	D	0.03	-27.973	13.5706	0.61845	0.0:0.0:0.5934:0.4066	.	94	O60939	SCN2B_HUMAN	W	94	ENSP00000278947:R94W	ENSP00000278947:R94W	R	-	1	2	SCN2B	117544178	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.036000	0.64164	0.237000	0.21200	-0.169000	0.13324	CGG		0.542	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		24	280	0	0	0	1	0	24	280				
DLC1	10395	broad.mit.edu	37	8	12957822	12957822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957822T>C	ENST00000276297.4	-	9	2433	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	DLC1_ENST00000520226.1_Missense_Mutation_p.K164R|DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000512044.2_Missense_Mutation_p.K272R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	675					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTTGAGCTTCAGGCTCTC	0.547																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2023-2025)aAg>aGg		deleted in liver cancer 1							120.0	110.0	114.0					8																	12957822		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957822T>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2024A>G	8.37:g.12957822T>C	ENSP00000276297:p.Lys675Arg					DLC1_ENST00000512044.2_Missense_Mutation_p.K272R|DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000520226.1_Missense_Mutation_p.K164R	p.K675R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2433	-			675					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2024A>G	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	5.192	0.221034	0.09863	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.04156	3.89;3.69;3.69;3.74	4.84	4.84	0.62591	.	0.053786	0.64402	D	0.000001	T	0.02533	0.0077	N	0.04355	-0.22	0.80722	D	1	B;B;B	0.23540	0.087;0.004;0.025	B;B;B	0.20184	0.014;0.006;0.028	T	0.44190	-0.9344	10	0.07030	T	0.85	.	14.914	0.70781	0.0:0.0:0.0:1.0	.	675;272;238	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	675;238;272;164	ENSP00000276297:K675R;ENSP00000351797:K238R;ENSP00000422595:K272R;ENSP00000428028:K164R	ENSP00000276297:K675R	K	-	2	0	DLC1	13002193	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.344000	0.44010	2.168000	0.68352	0.533000	0.62120	AAG		0.547	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		146	614	0	0	0	1	0	146	614				
FAM20A	54757	broad.mit.edu	37	17	66538300	66538300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66538300T>C	ENST00000592554.1	-	7	1657	c.935A>G	c.(934-936)aAc>aGc	p.N312S	PRKAR1A_ENST00000588188.2_Intron|AC079210.1_ENST00000600820.1_5'Flank|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	312					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAAGCACACGTTGCTCGCTGG	0.577																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(934-936)aAc>aGc		family with sequence similarity 20, member A							89.0	72.0	78.0					17																	66538300		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66538300T>C	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.935A>G	17.37:g.66538300T>C	ENSP00000468308:p.Asn312Ser					FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.N312S	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			7	1657	-	Breast(10;1.64e-13)		312					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.935A>G	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727269	0.89390	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86128	0.1573	9	0.66056	D	0.02	-46.305	16.5885	0.84745	0.0:0.0:0.0:1.0	.	312	Q96MK3	FA20A_HUMAN	S	312	.	ENSP00000226094:N312S	N	-	2	0	FAM20A	64049895	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	AAC		0.577	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		31	158	0	0	0	1	0	31	158				
SNCAIP	9627	broad.mit.edu	37	5	121785597	121785597	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121785597G>A	ENST00000261368.8	+	9	1912	c.1650G>A	c.(1648-1650)caG>caA	p.Q550Q	SNCAIP_ENST00000379536.2_Silent_p.Q490Q|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|SNCAIP_ENST00000261367.7_Silent_p.Q597Q|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.Q152Q|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	550					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TAGAAGCCCAGAAATCAGAGG	0.428																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1789-1791)caG>caA		synuclein, alpha interacting protein							158.0	157.0	157.0					5																	121785597		2203	4300	6503	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121785597G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1650G>A	5.37:g.121785597G>A						CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.Q152Q|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.Q550Q|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.Q490Q|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	p.Q597Q			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	11	3219	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	550					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.1791G>A	CCDS4131.1																																																																																				0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			130	519	0	0	0	1	0	130	519				
APOB	338	broad.mit.edu	37	2	21233266	21233266	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233266A>G	ENST00000233242.1	-	26	6601	c.6474T>C	c.(6472-6474)atT>atC	p.I2158I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2158	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTAATGCAATTTGTATAT	0.299																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6472-6474)atT>atC		apolipoprotein B	Atorvastatin(DB01076)						56.0	55.0	56.0					2																	21233266		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233266A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6474T>C	2.37:g.21233266A>G							p.I2158I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6601	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2158			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.6474T>C	CCDS1703.1																																																																																				0.299	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			32	78	0	0	0	1	0	32	78				
KATNAL1	84056	broad.mit.edu	37	13	30815139	30815139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30815139C>T	ENST00000380615.3	-	5	744	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTTCAAGGGCTTCCACCAGA	0.383																																						ENST00000380615.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19						c.(577-579)Gcc>Acc		katanin p60 subunit A-like 1							182.0	162.0	169.0					13																	30815139		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30815139C>T	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.577G>A	13.37:g.30815139C>T	ENSP00000369989:p.Ala193Thr					KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	p.A193T	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	5	744	-		Lung SC(185;0.0257)	193						Missense_Mutation	SNP	ENST00000380615.3	37	c.577G>A	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403286	0.11754	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94280	-3.39;-3.39	5.56	4.71	0.59529	.	0.244503	0.40385	N	0.001120	D	0.88171	0.6365	L	0.28740	0.885	0.50171	D	0.999854	B	0.16396	0.017	B	0.15484	0.013	T	0.83204	-0.0077	10	0.19590	T	0.45	-18.8873	14.5621	0.68148	0.0:0.9297:0.0:0.0703	.	193	Q9BW62	KATL1_HUMAN	T	193	ENSP00000369989:A193T;ENSP00000369991:A193T	ENSP00000369989:A193T	A	-	1	0	KATNAL1	29713139	0.851000	0.29673	0.665000	0.29768	0.996000	0.88848	1.757000	0.38400	1.356000	0.45884	0.650000	0.86243	GCC		0.383	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		65	398	0	0	0	1	0	65	398				
IFNAR2	3455	broad.mit.edu	37	21	34619141	34619141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34619141A>C	ENST00000342136.4	+	5	666	c.340A>C	c.(340-342)Agc>Cgc	p.S114R	IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R|AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000404220.3_Missense_Mutation_p.S114R			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	114					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	AGAAGGATTCAGCGGGAACAC	0.468																																						ENST00000404220.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(340-342)Agc>Cgc		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						179.0	135.0	149.0					21																	34619141		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34619141A>C		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.340A>C	21.37:g.34619141A>C	ENSP00000343957:p.Ser114Arg					IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000342136.4_Missense_Mutation_p.S114R|AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R	p.S114R			P48551	INAR2_HUMAN			5	669	+			114					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.340A>C	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759776	0.31137	.	.	ENSG00000159110	ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073;ENST00000447980	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.02	-6.61	0.01818	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.463445	0.19627	U	0.109766	T	0.44307	0.1287	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.43327	-0.9398	10	0.02654	T	1	.	17.0179	0.86424	0.1906:0.8094:0.0:0.0	.	114;114;114	P48551-3;P48551;P48551-2	.;INAR2_HUMAN;.	R	114;114;114;114;114;42;42;138	ENSP00000371699:S114R;ENSP00000384309:S114R;ENSP00000371676:S114R;ENSP00000343957:S114R;ENSP00000343289:S114R;ENSP00000413160:S42R;ENSP00000403569:S42R;ENSP00000402311:S138R	ENSP00000343289:S114R	S	+	1	0	IFNAR2	33541011	0.001000	0.12720	0.000000	0.03702	0.459000	0.32528	-0.095000	0.11077	-1.170000	0.02769	0.533000	0.62120	AGC		0.468	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			34	144	0	0	0	1	0	34	144				
TPCN1	53373	broad.mit.edu	37	12	113729700	113729700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113729700G>A	ENST00000335509.6	+	25	2364	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T	TPCN1_ENST00000541517.1_Missense_Mutation_p.A756T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T|TPCN1_ENST00000550785.1_Missense_Mutation_p.A756T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	684					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GATCATTGTCGCCTTTATCCT	0.597																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(2266-2268)Gcc>Acc		two pore segment channel 1							134.0	110.0	118.0					12																	113729700		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113729700G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2050G>A	12.37:g.113729700G>A	ENSP00000335300:p.Ala684Thr					TPCN1_ENST00000335509.6_Missense_Mutation_p.A684T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T|TPCN1_ENST00000541517.1_Missense_Mutation_p.A756T	p.A756T	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			26	2435	+			684					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.2266G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	36	5.599683	0.96614	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	D	0.98389	1.0562	10	0.87932	D	0	-36.4881	19.0502	0.93039	0.0:0.0:1.0:0.0	.	756;684	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	T	684;756;756;616	ENSP00000335300:A684T;ENSP00000448083:A756T;ENSP00000438125:A756T;ENSP00000376350:A616T	ENSP00000335300:A684T	A	+	1	0	TPCN1	112214083	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	9.199000	0.95003	2.560000	0.86352	0.561000	0.74099	GCC		0.597	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		9	475	0	0	0	1	0	9	475				
GAST	2520	broad.mit.edu	37	17	39872089	39872089	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39872089G>T	ENST00000329402.3	+	3	338	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	91					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGGATGGATGGACTTCGGCCG	0.572																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(271-273)Gac>Tac		gastrin							72.0	73.0	73.0					17																	39872089		2203	4300	6503	SO:0001583	missense	2520					extracellular region	hormone activity	g.chr17:39872089G>T		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.271G>T	17.37:g.39872089G>T	ENSP00000331358:p.Asp91Tyr					JUP_ENST00000540235.1_Intron	p.D91Y	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		3	338	+		Breast(137;0.000307)	91					P78463|P78464	Missense_Mutation	SNP	ENST00000329402.3	37	c.271G>T	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580594	0.46006	.	.	ENSG00000184502	ENST00000329402	T	0.69040	-0.37	4.74	4.74	0.60224	Gastrin/cholecystokinin peptide hormone (2);Gastrin/cholecystokinin, conserved site (1);	0.000000	0.53938	D	0.000056	T	0.80924	0.4717	M	0.79475	2.455	0.40748	D	0.982895	D	0.89917	1.0	D	0.97110	1.0	D	0.83801	0.0236	10	0.87932	D	0	-27.5677	13.1178	0.59309	0.0:0.0:1.0:0.0	.	91	P01350	GAST_HUMAN	Y	91	ENSP00000331358:D91Y	ENSP00000331358:D91Y	D	+	1	0	GAST	37125615	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	4.178000	0.58284	2.455000	0.83008	0.655000	0.94253	GAC		0.572	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			94	401	1	0	9.15355e-43	1	1.11544e-42	94	401				
WDR6	11180	broad.mit.edu	37	3	49049361	49049361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49049361G>T	ENST00000608424.1	+	2	433	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S|WDR6_ENST00000395474.3_Missense_Mutation_p.A162S			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	132					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TATAGCCTTGGCCCTGGGCCA	0.582																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(484-486)Gcc>Tcc		WD repeat domain 6							70.0	68.0	69.0					3																	49049361		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049361G>T	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.394G>T	3.37:g.49049361G>T	ENSP00000477389:p.Ala132Ser					WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S	p.A162S	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	764	+			132					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.484G>T		.	.	.	.	.	.	.	.	.	.	G	14.72	2.621042	0.46736	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.77098	-0.06;-0.06;-1.07	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.055894	0.64402	D	0.000001	T	0.74543	0.3730	L	0.28115	0.83	0.37951	D	0.932645	D;P	0.53312	0.959;0.826	P;B	0.50109	0.631;0.341	T	0.75007	-0.3469	10	0.28530	T	0.3	-21.9638	18.0143	0.89233	0.0:0.0:1.0:0.0	.	132;81	Q9NNW5;E9PDU5	WDR6_HUMAN;.	S	162;164;132;81	ENSP00000378857:A162S;ENSP00000387692:A164S;ENSP00000413432:A81S	ENSP00000346247:A132S	A	+	1	0	WDR6	49024365	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	6.145000	0.71769	2.548000	0.85928	0.561000	0.74099	GCC		0.582	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			61	275	1	0	7.50695e-29	1	8.75429e-29	61	275				
STH	246744	broad.mit.edu	37	17	44076881	44076881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44076881G>A	ENST00000537309.1	+	1	266	c.236G>A	c.(235-237)aGc>aAc	p.S79N	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000574436.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	79						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGTTCTTACAGCTCTGAAGAG	0.557																																						ENST00000537309.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(235-237)aGc>aAc		saitohin							77.0	77.0	77.0					17																	44076881		1926	4151	6077	SO:0001583	missense	246744					cytoplasm|nucleus		g.chr17:44076881G>A	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.236G>A	17.37:g.44076881G>A	ENSP00000443168:p.Ser79Asn					MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Intron	p.S79N	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN			1	266	+			79					A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	c.236G>A	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	G	8.547	0.874519	0.17395	.	.	ENSG00000256762	ENST00000537309	T	0.54675	0.56	2.89	0.75	0.18387	.	.	.	.	.	T	0.29190	0.0726	N	0.08118	0	0.09310	N	1	P	0.40332	0.713	B	0.40410	0.328	T	0.16158	-1.0412	9	0.87932	D	0	.	2.9961	0.05998	0.158:0.0:0.5773:0.2646	.	79	Q8IWL8	STH_HUMAN	N	79	ENSP00000443168:S79N	ENSP00000443168:S79N	S	+	2	0	STH	41432718	0.007000	0.16637	0.001000	0.08648	0.029000	0.11900	0.605000	0.24179	0.240000	0.21263	0.561000	0.74099	AGC		0.557	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			36	117	0	0	0	1	0	36	117				
SUN2	25777	broad.mit.edu	37	22	39135889	39135889	+	Silent	SNP	G	G	A	rs199929528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39135889G>A	ENST00000405510.1	-	14	1774	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Silent_p.R493R|SUN2_ENST00000406622.1_Silent_p.R472R|SUN2_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000216064.4_Silent_p.R472R|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	472					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGAGCCCCACGCGGCCCCCTC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18725	0.0		0.0	False		,,,				2504	0.0					ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(1414-1416)cgC>cgT		Sad1 and UNC84 domain containing 2							74.0	84.0	81.0					22																	39135889		2203	4300	6503	SO:0001819	synonymous_variant	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39135889G>A	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1416C>T	22.37:g.39135889G>A						RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000216064.4_Silent_p.R472R|SUN2_ENST00000406622.1_Silent_p.R472R|SUN2_ENST00000405018.1_Silent_p.R493R	p.R472R	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			14	1774	-			472					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	37	c.1416C>T	CCDS13978.1																																																																																				0.622	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		148	738	0	0	0	1	0	148	738				
FH	2271	broad.mit.edu	37	1	241676958	241676958	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241676958T>C	ENST00000366560.3	-	3	361	c.323A>G	c.(322-324)cAg>cGg	p.Q108R	FH_ENST00000493477.1_5'Flank	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	108					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCATAATCCTGGTTTACTTC	0.373			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(322-324)cAg>cGg		fumarate hydratase							146.0	144.0	145.0					1																	241676958		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241676958T>C	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.323A>G	1.37:g.241676958T>C	ENSP00000355518:p.Gln108Arg						p.Q108R	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	3	361	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	108					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.323A>G	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022955	0.54683	.	.	ENSG00000091483	ENST00000366560	D	0.99304	-5.72	5.85	5.85	0.93711	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.171783	0.52532	D	0.000071	D	0.95887	0.8661	N	0.05078	-0.115	0.51767	D	0.999934	B	0.02656	0.0	B	0.08055	0.003	D	0.94601	0.7796	10	0.16420	T	0.52	-25.9253	14.1942	0.65659	0.0:0.0:0.0:1.0	.	108	P07954	FUMH_HUMAN	R	108	ENSP00000355518:Q108R	ENSP00000355518:Q108R	Q	-	2	0	FH	239743581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.234000	0.73211	0.533000	0.62120	CAG		0.373	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		158	452	0	0	0	1	0	158	452				
ICE1	23379	broad.mit.edu	37	5	5464772	5464772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5464772C>T	ENST00000296564.7	+	13	5547	c.5325C>T	c.(5323-5325)ctC>ctT	p.L1775L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1775					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATATTCAACTCACACGAGGTC	0.483																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(5323-5325)ctC>ctT		KIAA0947							35.0	35.0	35.0					5																	5464772		1909	4116	6025	SO:0001819	synonymous_variant	23379							g.chr5:5464772C>T																												ENST00000296564.7:c.5325C>T	5.37:g.5464772C>T							p.L1775L	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	5547	+			1775					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.5325C>T	CCDS47187.1																																																																																				0.483	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			15	108	0	0	0	1	0	15	108				
PARP4	143	broad.mit.edu	37	13	25008755	25008755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25008755G>A	ENST00000381989.3	-	31	4629	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1508					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GACTTCCTTCGAGACTGCCTA	0.443																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4522-4524)ctC>ctT		poly (ADP-ribose) polymerase family, member 4							71.0	73.0	72.0					13																	25008755		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25008755G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4524C>T	13.37:g.25008755G>A							p.L1508L	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	4629	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1508					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.4524C>T	CCDS9307.1																																																																																				0.443	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		50	280	0	0	0	1	0	50	280				
KCNAB2	8514	broad.mit.edu	37	1	6155597	6155597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6155597C>T	ENST00000164247.1	+	13	1281	c.717C>T	c.(715-717)ggC>ggT	p.G239G	KCNAB2_ENST00000602612.1_Silent_p.G239G|KCNAB2_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Silent_p.G225G|KCNAB2_ENST00000458166.2_Silent_p.G172G	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	239					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAGTGGGCGCCATGACCT	0.632																																						ENST00000164247.1																			0				large_intestine(1)|lung(4)|skin(3)	8						c.(715-717)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, beta member 2							90.0	89.0	89.0					1																	6155597		2203	4299	6502	SO:0001819	synonymous_variant	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6155597C>T	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.717C>T	1.37:g.6155597C>T						KCNAB2_ENST00000352527.1_Silent_p.G225G|KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000458166.2_Silent_p.G172G|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000602612.1_Silent_p.G239G	p.G239G	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	13	1281	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	239					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Silent	SNP	ENST00000164247.1	37	c.717C>T	CCDS55.1																																																																																				0.632	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		32	327	0	0	0	1	0	32	327				
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43342620	43342620	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43342620G>A	ENST00000585780.1	+	0	1615				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA					MAP3K14 antisense RNA 1																		ACTGTATTTGGACTTTCACAC	0.577																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							68.0	69.0	69.0					17																	43342620		1989	4168	6157			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43342620G>A	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43342620G>A						MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA				Q99558	M3K14_HUMAN			0	2694	-									RNA	SNP	ENST00000585780.1	37																																																																																						0.577	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		64	353	0	0	0	1	0	64	353				
KAT7	11143	broad.mit.edu	37	17	47875874	47875874	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47875874C>T	ENST00000259021.4	+	4	814	c.534C>T	c.(532-534)agC>agT	p.S178S	KAT7_ENST00000503935.2_Silent_p.S22S|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000435742.2_Silent_p.S22S|KAT7_ENST00000424009.2_Silent_p.S178S|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000510819.1_Intron	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	178					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCCATGAAAGCTACAACTTCA	0.507																																						ENST00000503935.2																			0											c.(64-66)agC>agT		K(lysine) acetyltransferase 7							127.0	114.0	119.0					17																	47875874		2203	4300	6503	SO:0001819	synonymous_variant	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47875874C>T	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.534C>T	17.37:g.47875874C>T						KAT7_ENST00000510819.1_Intron|KAT7_ENST00000424009.2_Silent_p.S178S|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000435742.2_Silent_p.S22S|KAT7_ENST00000259021.4_Silent_p.S178S|KAT7_ENST00000509773.1_Intron	p.S22S			O95251	MYST2_HUMAN			4	1102	+			178			Ser-rich.		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP	ENST00000259021.4	37	c.66C>T	CCDS11554.1																																																																																				0.507	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		89	435	0	0	0	1	0	89	435				
FLG	2312	broad.mit.edu	37	1	152281939	152281939	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281939T>C	ENST00000368799.1	-	3	5458	c.5423A>G	c.(5422-5424)gAg>gGg	p.E1808G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1808	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACCCTCTTGGGACGC	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5422-5424)gAg>gGg		filaggrin							330.0	340.0	337.0					1																	152281939		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281939T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5423A>G	1.37:g.152281939T>C	ENSP00000357789:p.Glu1808Gly					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E1808G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5458	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1808			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5423A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	6.540	0.467921	0.12402	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01745	4.66	2.15	-0.104	0.13605	.	.	.	.	.	T	0.02380	0.0073	M	0.75447	2.3	0.09310	N	1	D	0.57899	0.981	D	0.67900	0.954	T	0.41215	-0.9521	9	0.38643	T	0.18	-1.1804	4.4071	0.11414	0.0:0.5757:0.0:0.4243	.	1808	P20930	FILA_HUMAN	G	1808;43	ENSP00000357789:E1808G	ENSP00000271820:E43G	E	-	2	0	FLG	150548563	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.205000	0.09411	-0.012000	0.14223	0.378000	0.23410	GAG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		462	2290	0	0	0	1	0	462	2290				
BAZ2B	29994	broad.mit.edu	37	2	160287620	160287620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160287620C>A	ENST00000392783.2	-	10	2443	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	650	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCATCATCATCTTCTTCTTCT	0.323																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1948-1950)Gat>Tat		bromodomain adjacent to zinc finger domain, 2B							162.0	146.0	151.0					2																	160287620		1880	4110	5990	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287620C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1948G>T	2.37:g.160287620C>A	ENSP00000376534:p.Asp650Tyr					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y|BAZ2B_ENST00000343439.5_Intron	p.D650Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			10	2443	-			650			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1948G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356178	0.41700	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.08984	3.03;3.03;3.03	5.37	5.37	0.77165	.	0.197372	0.24031	U	0.042184	T	0.12092	0.0294	L	0.29908	0.895	0.80722	D	1	P;P;P	0.50528	0.936;0.936;0.894	P;P;B	0.48141	0.568;0.568;0.365	T	0.01504	-1.1338	10	0.72032	D	0.01	-13.5492	17.2848	0.87138	0.0:1.0:0.0:0.0	.	454;648;650	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	Y	648;650;650	ENSP00000376533:D648Y;ENSP00000376534:D650Y;ENSP00000348087:D650Y	ENSP00000348087:D650Y	D	-	1	0	BAZ2B	159995866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	2.514000	0.84764	0.643000	0.83706	GAT		0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			83	239	1	0	1.91593e-42	1	2.3328e-42	83	239				
PCK1	5105	broad.mit.edu	37	20	56139438	56139438	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139438G>T	ENST00000319441.4	+	7	1339	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	392					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGGAGTGGAGCTCAGAGGAT	0.582																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1174-1176)aGc>aTc		phosphoenolpyruvate carboxykinase 1 (soluble)							82.0	73.0	76.0					20																	56139438		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139438G>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1175G>T	20.37:g.56139438G>T	ENSP00000319814:p.Ser392Ile					PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	p.S392I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1339	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		392					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1175G>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891225	0.17613	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.04551	3.6;3.6;3.6	5.2	-3.57	0.04612	.	0.544994	0.22389	N	0.060701	T	0.04363	0.0120	L	0.42632	1.34	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.35624	-0.9781	10	0.59425	D	0.04	-6.392	10.5693	0.45192	0.257:0.5833:0.1597:0.0	.	75;392	B4DT64;P35558	.;PCKGC_HUMAN	I	74;392;75;260	ENSP00000319814:S392I;ENSP00000445767:S75I;ENSP00000444342:S260I	ENSP00000319814:S392I	S	+	2	0	PCK1	55572844	0.001000	0.12720	0.001000	0.08648	0.212000	0.24457	-0.015000	0.12634	-0.255000	0.09486	0.655000	0.94253	AGC		0.582	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			57	252	1	0	9.86064e-34	1	1.16979e-33	57	252				
MRPL10	124995	broad.mit.edu	37	17	45904115	45904115	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45904115G>A	ENST00000351111.2	-	4	425	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MRPL10_ENST00000414011.1_Silent_p.Y150Y|MRPL10_ENST00000290208.7_Silent_p.Y150Y	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	140					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGATTTTGGTACTTGGAAT	0.537																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(448-450)taC>taT		mitochondrial ribosomal protein L10							64.0	58.0	60.0					17																	45904115		2203	4300	6503	SO:0001819	synonymous_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904115G>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.420C>T	17.37:g.45904115G>A						MRPL10_ENST00000414011.1_Silent_p.Y150Y|MRPL10_ENST00000351111.2_Silent_p.Y140Y	p.Y150Y			Q7Z7H8	RM10_HUMAN			4	902	-			140					A6NGJ4|Q96B80|Q96Q55	Silent	SNP	ENST00000351111.2	37	c.450C>T	CCDS11516.1																																																																																				0.537	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		66	307	0	0	0	1	0	66	307				
OR2T4	127074	broad.mit.edu	37	1	248525877	248525877	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248525877C>A	ENST00000366475.1	+	1	995	c.995C>A	c.(994-996)gCt>gAt	p.A332D		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATGGGGGCTCTGAAGAAA	0.408																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(994-996)gCt>gAt		olfactory receptor, family 2, subfamily T, member 4							108.0	114.0	112.0					1																	248525877		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525877C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.995C>A	1.37:g.248525877C>A	ENSP00000355431:p.Ala332Asp						p.A332D	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	995	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		332					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.995C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087079	0.36855	.	.	ENSG00000196944	ENST00000366475	T	0.46063	0.88	3.0	2.06	0.26882	.	0.000000	0.46758	D	0.000273	T	0.62612	0.2442	M	0.89534	3.04	0.09310	N	1	D	0.57899	0.981	P	0.61592	0.891	T	0.55768	-0.8089	10	0.87932	D	0	.	7.8187	0.29276	0.1828:0.6396:0.1776:0.0	.	332	Q8NH00	OR2T4_HUMAN	D	332	ENSP00000355431:A332D	ENSP00000355431:A332D	A	+	2	0	OR2T4	246592500	0.002000	0.14202	0.502000	0.27614	0.981000	0.71138	1.341000	0.33907	0.436000	0.26393	0.585000	0.79938	GCT		0.408	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		130	705	1	0	9.19936e-45	1	1.12636e-44	130	705				
NME1	4830	broad.mit.edu	37	17	49239138	49239138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49239138G>A	ENST00000393196.3	+	5	522	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron|NME1_ENST00000511355.1_3'UTR|NME1-NME2_ENST00000393198.3_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000336097.3_Missense_Mutation_p.G156S	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	131					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	GAAGGAGATCGGCTTGTGGTT	0.468																																					GBM(176;1298 2890 6639 30062)	ENST00000336097.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(466-468)Ggc>Agc		NME/NM23 nucleoside diphosphate kinase 1							127.0	115.0	119.0					17																	49239138		2203	4300	6503	SO:0001583	missense	4830							g.chr17:49239138G>A	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.391G>A	17.37:g.49239138G>A	ENSP00000376892:p.Gly131Ser					NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron|NME1_ENST00000511355.1_3'UTR|NME1_ENST00000393196.3_Missense_Mutation_p.G131S|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME2_ENST00000393193.2_Intron	p.G156S	NM_198175.1	NP_937818.1			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		6	702	+								Q6FGK3|Q86XQ2|Q9UDJ6	Missense_Mutation	SNP	ENST00000393196.3	37	c.466G>A	CCDS11579.1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642871	0.14451	.	.	ENSG00000239672	ENST00000393196;ENST00000336097;ENST00000013034	T;T;T	0.75938	-0.98;-0.98;-0.98	5.81	1.19	0.21007	.	.	.	.	.	T	0.47173	0.1431	N	0.03209	-0.39	0.21105	N	0.999788	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.29822	-0.9999	9	0.27785	T	0.31	-2.5617	6.3414	0.21324	0.3619:0.1399:0.4982:0.0	.	131;156	P15531;P15531-2	NDKA_HUMAN;.	S	131;156;156	ENSP00000376892:G131S;ENSP00000337060:G156S;ENSP00000013034:G156S	ENSP00000013034:G156S	G	+	1	0	NME1	46594137	0.966000	0.33281	0.477000	0.27303	0.325000	0.28411	0.859000	0.27858	0.017000	0.15025	-0.980000	0.02579	GGC		0.468	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		68	331	0	0	0	1	0	68	331				
FURIN	5045	broad.mit.edu	37	15	91424593	91424593	+	Missense_Mutation	SNP	G	G	A	rs145582614		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424593G>A	ENST00000268171.3	+	16	2149	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	624					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAAGTCCTCGATACGCACTA	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18211	0.0		0.0	False		,,,				2504	0.0					ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1870-1872)Gat>Aat		furin (paired basic amino acid cleaving enzyme)		G	ASN/ASP	7,4387	12.9+/-30.5	0,7,2190	72.0	66.0	68.0		1870	1.1	0.0	15	dbSNP_134	68	0,8596		0,0,4298	yes	missense	FURIN	NM_002569.2	23	0,7,6488	AA,AG,GG		0.0,0.1593,0.0539	benign	624/795	91424593	7,12983	2197	4298	6495	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424593G>A	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1870G>A	15.37:g.91424593G>A	ENSP00000268171:p.Asp624Asn						p.D624N	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2149	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		624			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1870G>A	CCDS10364.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.019	-1.466039	0.01053	0.001593	0.0	ENSG00000140564	ENST00000268171	D	0.87103	-2.21	5.02	1.07	0.20283	Growth factor, receptor (1);	0.663946	0.15833	N	0.242409	T	0.58090	0.2098	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53669	-0.8406	10	0.10111	T	0.7	-2.6261	8.3769	0.32449	0.7967:0.0:0.2033:0.0	.	624	P09958	FURIN_HUMAN	N	624	ENSP00000268171:D624N	ENSP00000268171:D624N	D	+	1	0	FURIN	89225597	0.212000	0.23540	0.001000	0.08648	0.046000	0.14306	2.576000	0.46033	0.017000	0.15025	0.555000	0.69702	GAT		0.662	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		120	463	0	0	0	1	0	120	463				
TBR1	10716	broad.mit.edu	37	2	162273383	162273383	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273383C>T	ENST00000389554.3	+	1	779	c.462C>T	c.(460-462)aaC>aaT	p.N154N	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	154					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N154N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCATCACCAACGGAGCCTACA	0.672																																						ENST00000389554.3																			1	Substitution - coding silent(1)	p.N154N(1)	ovary(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(460-462)aaC>aaT		T-box, brain, 1							66.0	69.0	68.0					2																	162273383		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273383C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.462C>T	2.37:g.162273383C>T							p.N154N	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			1	779	+			154					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.462C>T	CCDS33310.1																																																																																				0.672	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		44	958	0	0	0	1	0	44	958				
DLGAP1	9229	broad.mit.edu	37	18	3581920	3581920	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581920T>C	ENST00000315677.3	-	8	2513	c.1918A>G	c.(1918-1920)Aag>Gag	p.K640E	DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	640					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGTCCTTCTTCCTGTCCTCC	0.488																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(1918-1920)Aag>Gag		discs, large (Drosophila) homolog-associated protein 1							133.0	113.0	120.0					18																	3581920		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3581920T>C	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1918A>G	18.37:g.3581920T>C	ENSP00000316377:p.Lys640Glu					DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E	p.K640E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			8	2513	-		Colorectal(8;0.0257)	640					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.1918A>G	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307918	0.40895	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.41	5.41	0.78517	.	0.058235	0.64402	D	0.000002	T	0.16514	0.0397	L	0.31926	0.97	0.49483	D	0.999799	P;B;B;P;B;P;B;B	0.43231	0.801;0.166;0.005;0.684;0.242;0.763;0.242;0.203	B;B;B;B;B;B;B;B	0.40825	0.341;0.138;0.026;0.341;0.232;0.23;0.232;0.098	T	0.01626	-1.1309	10	0.46703	T	0.11	-29.3278	15.4516	0.75277	0.0:0.0:0.0:1.0	.	640;324;336;346;348;338;640;338	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	E	640;338;356;330;346;324;348;338;640	ENSP00000316377:K640E;ENSP00000383011:K338E;ENSP00000383014:K356E;ENSP00000383013:K330E;ENSP00000383019:K346E;ENSP00000437817:K324E;ENSP00000446312:K348E;ENSP00000383010:K338E;ENSP00000445973:K640E	ENSP00000316377:K640E	K	-	1	0	DLGAP1	3571920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.900000	0.69853	2.038000	0.60285	0.460000	0.39030	AAG		0.488	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			12	557	0	0	0	1	0	12	557				
AXIN1	8312	broad.mit.edu	37	16	347979	347979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:347979G>A	ENST00000262320.3	-	6	1898	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	AXIN1_ENST00000354866.3_Silent_p.A509A|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	509	Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCCCGAGGCGGCACCCCCCA	0.706																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1525-1527)gcC>gcT		axin 1							44.0	35.0	38.0					16																	347979		2198	4297	6495	SO:0001819	synonymous_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347979G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1527C>T	16.37:g.347979G>A						AXIN1_ENST00000354866.3_Silent_p.A509A|AXIN1_ENST00000481769.1_5'UTR	p.A509A	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			6	1898	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	509			Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.1527C>T	CCDS10405.1																																																																																				0.706	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			24	97	0	0	0	1	0	24	97				
MED17	9440	broad.mit.edu	37	11	93526947	93526947	+	Missense_Mutation	SNP	G	G	A	rs140935979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93526947G>A	ENST00000251871.3	+	4	978	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	231					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGATCTCGATCTGGATAA	0.303																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(691-693)Gat>Aat		mediator complex subunit 17		G	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	71.0	73.0	73.0		691	5.5	1.0	11	dbSNP_134	73	0,8592		0,0,4296	no	missense	MED17	NM_004268.4	23	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	231/652	93526947	1,12993	2201	4296	6497	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93526947G>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.691G>A	11.37:g.93526947G>A	ENSP00000251871:p.Asp231Asn						p.D231N	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			4	978	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	231					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.691G>A	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652685	0.88056	2.27E-4	0.0	ENSG00000042429	ENST00000251871;ENST00000427225;ENST00000528786	T;T	0.54675	0.56;0.56	5.47	5.47	0.80525	.	0.044267	0.85682	D	0.000000	T	0.70046	0.3179	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65092	-0.6252	10	0.28530	T	0.3	-24.2179	19.3299	0.94281	0.0:0.0:1.0:0.0	.	231	Q9NVC6	MED17_HUMAN	N	231;201;123	ENSP00000251871:D231N;ENSP00000433626:D123N	ENSP00000251871:D231N	D	+	1	0	MED17	93166595	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.814000	0.86154	2.591000	0.87537	0.655000	0.94253	GAT		0.303	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		40	173	0	0	0	1	0	40	173				
TTN	7273	broad.mit.edu	37	2	179485295	179485295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485295G>A	ENST00000591111.1	-	198	41254	c.41030C>T	c.(41029-41031)tCt>tTt	p.S13677F	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S15318F|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13677	Ig-like 93.				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)			GAATGTGACAGATTTCTTCTC	0.358																																						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.(45952-45954)tCt>tTt		titin							92.0	86.0	88.0					2																	179485295		1881	4106	5987	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485295G>A	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.41030C>T	2.37:g.179485295G>A	ENSP00000465570:p.Ser13677Phe					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S13677F	p.S15318F	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)		248	46177	-			13677			Ig-like 97.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.45953C>T		.	.	.	.	.	.	.	.	.	.	G	13.45	2.240404	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55386	0.1917	M	0.65677	2.01	0.44221	D	0.997059	B;B;B;B	0.31274	0.171;0.317;0.317;0.171	B;B;B;B	0.36418	0.09;0.13;0.224;0.207	T	0.56709	-0.7934	9	0.87932	D	0	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	6253;6378;6445;13677	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	12750;6253;6445;6378;6253	ENSP00000343764:S12750F;ENSP00000434586:S6253F;ENSP00000340554:S6445F;ENSP00000352154:S6378F	ENSP00000340554:S6445F	S	-	2	0	TTN	179193540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.632000	0.67819	2.793000	0.96121	0.563000	0.77884	TCT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		87	223	0	0	0	1	0	87	223				
CYP2U1	113612	broad.mit.edu	37	4	108866490	108866490	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108866490G>T	ENST00000332884.6	+	2	1130	c.855G>T	c.(853-855)aaG>aaT	p.K285N	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.K76N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	285					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GACCATTTAAGGAATTAAGAC	0.393																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(853-855)aaG>aaT		cytochrome P450, family 2, subfamily U, polypeptide 1							70.0	72.0	71.0					4																	108866490		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866490G>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.855G>T	4.37:g.108866490G>T	ENSP00000333212:p.Lys285Asn					CYP2U1_ENST00000508453.1_Missense_Mutation_p.K76N|RP11-286E11.1_ENST00000513071.1_RNA	p.K285N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1130	+		Hepatocellular(203;0.217)	285					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.855G>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240036	0.58995	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.71103	-0.54;-0.54	5.78	3.04	0.35103	.	0.288881	0.42821	D	0.000641	T	0.57286	0.2043	L	0.41906	1.305	0.52099	D	0.999946	B	0.25719	0.132	B	0.29353	0.101	T	0.39542	-0.9609	10	0.11794	T	0.64	.	9.2284	0.37421	0.3069:0.0:0.6931:0.0	.	285	Q7Z449	CP2U1_HUMAN	N	285;242;76	ENSP00000333212:K285N;ENSP00000423667:K76N	ENSP00000333212:K285N	K	+	3	2	CYP2U1	109085939	1.000000	0.71417	0.437000	0.26809	0.997000	0.91878	1.111000	0.31159	0.319000	0.23209	0.563000	0.77884	AAG		0.393	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		13	359	1	0	5.50884e-06	1	5.65664e-06	13	359				
C11orf58	10944	broad.mit.edu	37	11	16766172	16766172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16766172G>A	ENST00000228136.4	+	2	466	c.88G>A	c.(88-90)Gca>Aca	p.A30T	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_3'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	30										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TTGGGAGGCAGCAGACTTGGG	0.348																																						ENST00000228136.4																			0				NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						c.(88-90)Gca>Aca		chromosome 11 open reading frame 58							91.0	86.0	88.0					11																	16766172		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16766172G>A	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.88G>A	11.37:g.16766172G>A	ENSP00000228136:p.Ala30Thr					C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_3'UTR	p.A30T			O00193	SMAP_HUMAN			2	466	+			30					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.88G>A	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912490	0.92178	.	.	ENSG00000110696	ENST00000228136;ENST00000528634;ENST00000525684	.	.	.	5.41	5.41	0.78517	.	0.052795	0.85682	D	0.000000	T	0.79137	0.4395	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.80910	-0.1171	9	0.72032	D	0.01	.	17.3274	0.87252	0.0:0.0:1.0:0.0	.	30	O00193	SMAP_HUMAN	T	30	.	ENSP00000228136:A30T	A	+	1	0	C11orf58	16722748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.685000	0.91497	0.585000	0.79938	GCA		0.348	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		70	250	0	0	0	1	0	70	250				
TRIT1	54802	broad.mit.edu	37	1	40309819	40309819	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40309819C>A	ENST00000316891.5	-	10	1202	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000441669.2_Silent_p.L314L|TRIT1_ENST00000537223.1_Silent_p.L92L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	396					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAGGTCACACAGGTGATAAC	0.468																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(1186-1188)ctG>ctT		tRNA isopentenyltransferase 1							158.0	141.0	147.0					1																	40309819		2203	4300	6503	SO:0001819	synonymous_variant	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40309819C>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1188G>T	1.37:g.40309819C>A						TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000537223.1_Silent_p.L92L|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000441669.2_Silent_p.L314L	p.L396L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		10	1202	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	396					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	ENST00000316891.5	37	c.1188G>T	CCDS30681.1																																																																																				0.468	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		35	309	1	0	6.29468e-14	1	6.81746e-14	35	309				
DUSP22	56940	broad.mit.edu	37	6	345913	345913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:345913G>A	ENST00000344450.5	+	5	691	c.248G>A	c.(247-249)aGc>aAc	p.S83N	DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000604971.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	83	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CGCGGTGAGAGCTGCCTTGTA	0.433																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26								dual specificity phosphatase 22							159.0	131.0	141.0					6																	345913		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:345913G>A	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.248G>A	6.37:g.345913G>A	ENSP00000345281:p.Ser83Asn					DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000344450.5_Missense_Mutation_p.S83N				Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	0	1052	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)						B4DK56|Q59GW2|Q5VWR2|Q96AR1	Translation_Start_Site	SNP	ENST00000344450.5	37		CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	6.942	0.543537	0.13250	.	.	ENSG00000112679	ENST00000344450	T	0.60171	0.21	5.41	5.41	0.78517	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.219153	0.40469	N	0.001099	T	0.11836	0.0288	N	0.00605	-1.335	0.49213	D	0.999763	B;B;B	0.25850	0.0;0.025;0.136	B;B;B	0.23716	0.002;0.048;0.048	T	0.41805	-0.9488	10	0.05959	T	0.93	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	83;40;83	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	N	83	ENSP00000345281:S83N	ENSP00000345281:S83N	S	+	2	0	DUSP22	290913	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	6.583000	0.74053	2.523000	0.85059	0.655000	0.94253	AGC		0.433	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		51	362	0	0	0	1	0	51	362				
ITGA7	3679	broad.mit.edu	37	12	56091492	56091492	+	Missense_Mutation	SNP	C	C	T	rs61733964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56091492C>T	ENST00000555728.1	-	10	1556	c.1528G>A	c.(1528-1530)Gca>Aca	p.A510T	ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000257880.7_Missense_Mutation_p.A510T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A466T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T			Q13683	ITA7_HUMAN	integrin, alpha 7	510					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGAGCACTGCGGTGTCAGCC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18035	0.0		0.0	False		,,,				2504	0.0					ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1528-1530)Gca>Aca		integrin, alpha 7		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	71.0	70.0	70.0		1408,1117,1396	4.3	0.0	12	dbSNP_129	70	0,8600		0,0,4300	no	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	470/1142,373/1045,466/1138	56091492	2,13004	2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091492C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1528G>A	12.37:g.56091492C>T	ENSP00000452387:p.Ala510Thr					ITGA7_ENST00000555728.1_Missense_Mutation_p.A510T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A466T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T	p.A510T			Q13683	ITA7_HUMAN			10	1747	-			510					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1528G>A		.	.	.	.	.	.	.	.	.	.	C	16.06	3.016975	0.54576	4.54E-4	0.0	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.28	4.28	0.50868	.	0.283792	0.28877	N	0.013856	T	0.62732	0.2452	L	0.39566	1.225	0.19300	N	0.999976	P;P;B;B	0.36354	0.464;0.549;0.452;0.359	B;B;B;B	0.35073	0.095;0.195;0.146;0.054	T	0.63323	-0.6663	10	0.72032	D	0.01	.	14.6156	0.68547	0.0:1.0:0.0:0.0	.	373;510;470;529	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	470;466;466;373;510;470;466;510;510	ENSP00000452120:A470T;ENSP00000257879:A466T;ENSP00000343009:A466T;ENSP00000393844:A373T;ENSP00000257880:A510T;ENSP00000377777:A470T;ENSP00000377776:A466T;ENSP00000452387:A510T	ENSP00000257879:A466T	A	-	1	0	ITGA7	54377759	0.638000	0.27225	0.014000	0.15608	0.061000	0.15899	3.031000	0.49728	2.130000	0.65690	0.561000	0.74099	GCA		0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		14	418	0	0	0	1	0	14	418				
ARMCX2	9823	broad.mit.edu	37	X	100911186	100911186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911186G>A	ENST00000328766.5	-	5	1842	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	ARMCX2_ENST00000330154.2_Silent_p.G463G|ARMCX2_ENST00000356824.4_Silent_p.G463G|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	463						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCTGAAGCCGGCCCTGATTTT	0.378																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1387-1389)ggC>ggT		armadillo repeat containing, X-linked 2							127.0	124.0	125.0					X																	100911186		2203	4300	6503	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100911186G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1389C>T	X.37:g.100911186G>A						ARMCX2_ENST00000330154.2_Silent_p.G463G|ARMCX2_ENST00000356824.4_Silent_p.G463G	p.G463G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1842	-			463					O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.1389C>T	CCDS14490.1																																																																																				0.378	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		152	497	0	0	0	1	0	152	497				
SAMM50	25813	broad.mit.edu	37	22	44368124	44368124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368124G>A	ENST00000350028.4	+	5	488	c.331G>A	c.(331-333)Gca>Aca	p.A111T	SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	111					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)		p.A111S(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGTGATGACGCACTTCCAAA	0.363																																						ENST00000350028.4																			1	Substitution - Missense(1)	p.A111S(1)	lung(1)	endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(331-333)Gca>Aca		SAMM50 sorting and assembly machinery component							127.0	117.0	120.0					22																	44368124		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44368124G>A	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.331G>A	22.37:g.44368124G>A	ENSP00000345445:p.Ala111Thr					SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	p.A111T	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			5	488	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	111					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.331G>A	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178579	0.94846	.	.	ENSG00000100347	ENST00000350028	T	0.48836	0.8	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.71170	-0.4671	10	0.41790	T	0.15	-25.4133	17.1579	0.86796	0.0:0.0:1.0:0.0	.	111	Q9Y512	SAM50_HUMAN	T	111	ENSP00000345445:A111T	ENSP00000345445:A111T	A	+	1	0	SAMM50	42699457	1.000000	0.71417	0.773000	0.31616	0.992000	0.81027	9.500000	0.97977	2.364000	0.80123	0.655000	0.94253	GCA		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		7	316	0	0	0	1	0	7	316				
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000226798.4																			1	Substitution - Nonsense(1)	p.E176*(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(526-528)Gaa>Taa		FSHD region gene 1							48.0	44.0	45.0					4																	190878646		2179	4274	6453	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878646G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.526G>T	4.37:g.190878646G>T	ENSP00000226798:p.Glu176*					FRG1_ENST00000514482.1_3'UTR	p.E176*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	748	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	176					A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.526G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	34	5.401103	0.96030	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	4.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.1825	10.4286	0.44393	0.0989:0.0:0.9011:0.0	.	.	.	.	X	176;48;113	.	ENSP00000226798:E176X	E	+	1	0	FRG1	191115640	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.376000	0.73141	0.937000	0.37394	0.454000	0.30748	GAA		0.373	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		9	281	1	0	1.15088e-07	1	1.19614e-07	9	281				
OR5W2	390148	broad.mit.edu	37	11	55681230	55681230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55681230A>C	ENST00000344514.1	-	1	828	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGGTGTAAAACAATGAGGTC	0.393																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(829-831)Ttt>Gtt		olfactory receptor, family 5, subfamily W, member 2							60.0	67.0	65.0					11																	55681230		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681230A>C	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.829T>G	11.37:g.55681230A>C	ENSP00000342448:p.Phe277Val						p.F277V	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	828	-			277						Missense_Mutation	SNP	ENST00000344514.1	37	c.829T>G	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.896046	0.33442	.	.	ENSG00000187612	ENST00000344514	T	0.00158	8.65	5.01	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000882	T	0.00384	0.0012	M	0.74881	2.28	0.20926	N	0.999825	D	0.67145	0.996	D	0.74023	0.982	T	0.41502	-0.9505	10	0.87932	D	0	.	6.6093	0.22743	0.8109:0.0:0.1891:0.0	.	277	Q8NH69	OR5W2_HUMAN	V	277	ENSP00000342448:F277V	ENSP00000342448:F277V	F	-	1	0	OR5W2	55437806	0.008000	0.16893	0.241000	0.24154	0.243000	0.25628	1.659000	0.37387	0.748000	0.32831	0.448000	0.29417	TTT		0.393	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		34	191	0	0	0	1	0	34	191				
LRP1B	53353	broad.mit.edu	37	2	141660727	141660727	+	Silent	SNP	A	A	G	rs370546332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141660727A>G	ENST00000389484.3	-	23	4499	c.3528T>C	c.(3526-3528)tgT>tgC	p.C1176C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1176	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTCAGCGAACACTCATCTA	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3526-3528)tgT>tgC		low density lipoprotein receptor-related protein 1B		A		0,4406		0,0,2203	73.0	63.0	67.0		3528	1.8	1.0	2		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		1176/4600	141660727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141660727A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3528T>C	2.37:g.141660727A>G		TSP Lung(27;0.18)					p.C1176C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	23	4499	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1176					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3528T>C	CCDS2182.1																																																																																				0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	257	0	0	0	1	0	7	257				
DDR2	4921	broad.mit.edu	37	1	162737131	162737131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162737131G>A	ENST00000367922.3	+	12	1713	c.1275G>A	c.(1273-1275)tgG>tgA	p.W425*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	425					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GGCAGTTCTGGCAGAAAATGC	0.473																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(1273-1275)tgG>tgA		discoidin domain receptor tyrosine kinase 2							97.0	88.0	91.0					1																	162737131		2203	4300	6503	SO:0001587	stop_gained	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162737131G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1275G>A	1.37:g.162737131G>A	ENSP00000356899:p.Trp425*					DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	p.W425*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		12	1713	+	all_hematologic(112;0.115)		425					Q7Z730	Nonsense_Mutation	SNP	ENST00000367922.3	37	c.1275G>A	CCDS1241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.272855|6.272855	0.97431|0.97431	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000433757|ENST00000367922;ENST00000367921;ENST00000458105	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.56963|.	0.2021|.	.|.	.|.	.|.	.|0.80722	.|D	.|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50915|.	-0.8771|.	3|.	.|0.18276	.|T	.|0.48	.|.	18.6038|18.6038	0.91259|0.91259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	18|425;425;35	.|.	.|ENSP00000356898:W425X	A|W	+|+	1|3	0|0	DDR2|DDR2	161003755|161003755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.295000|9.295000	0.96095|0.96095	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.473	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		61	325	0	0	0	1	0	61	325				
KIF13B	23303	broad.mit.edu	37	8	28976427	28976427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28976427C>A	ENST00000524189.1	-	30	3656	c.3618G>T	c.(3616-3618)gaG>gaT	p.E1206D	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1206					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAAAGAACTCCTCTTCTTCTT	0.458																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3616-3618)gaG>gaT		kinesin family member 13B							171.0	172.0	172.0					8																	28976427		1941	4155	6096	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28976427C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3618G>T	8.37:g.28976427C>A	ENSP00000427900:p.Glu1206Asp					CTD-2647L4.1_ENST00000523661.1_RNA	p.E1206D	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	30	3656	-		Ovarian(32;0.000536)	1206					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3618G>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	2.070	-0.413266	0.04799	.	.	ENSG00000197892	ENST00000524189	T	0.75704	-0.96	4.89	-6.99	0.01605	.	0.258306	0.44097	N	0.000483	T	0.35128	0.0921	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28713	-1.0035	10	0.09843	T	0.71	.	2.2038	0.03931	0.3404:0.2516:0.3025:0.1054	.	1206	F8VPJ2	.	D	1206	ENSP00000427900:E1206D	ENSP00000427900:E1206D	E	-	3	2	KIF13B	29032346	0.001000	0.12720	0.900000	0.35374	0.902000	0.53008	-1.583000	0.02115	-1.236000	0.02542	-0.471000	0.05019	GAG		0.458	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			74	470	1	0	8.70598e-44	1	1.06393e-43	74	470				
TTC8	123016	broad.mit.edu	37	14	89307480	89307480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89307480A>C	ENST00000345383.5	+	4	483	c.399A>C	c.(397-399)agA>agC	p.R133S	Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000338104.6_Missense_Mutation_p.R133S|TTC8_ENST00000346301.4_Missense_Mutation_p.R133S|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000354441.6_Intron	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	143					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAACACCCAGAACCGCCTACA	0.532																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(397-399)agA>agC		tetratricopeptide repeat domain 8							50.0	57.0	54.0					14																	89307480		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89307480A>C	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.399A>C	14.37:g.89307480A>C	ENSP00000339486:p.Arg133Ser					TTC8_ENST00000345383.5_Missense_Mutation_p.R133S|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000346301.4_Missense_Mutation_p.R133S|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000354441.6_Intron	p.R133S			Q8TAM2	TTC8_HUMAN			4	451	+			143					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.399A>C	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.90|19.90|19.90	3.912562|3.912562|3.912562	0.72983|0.72983|0.72983	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000343648|ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651	.|.|T;T;T;T	.|.|0.80909	.|.|-1.3;-1.38;-1.43;-1.29	5.6|5.6|5.6	-0.831|-0.831|-0.831	0.10789|0.10789|0.10789	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.88366|0.88366|0.88366	0.6417|0.6417|0.6417	M|M|M	0.87547|0.87547|0.87547	2.89|2.89|2.89	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D	.|.|0.89917	.|.|0.993;1.0;0.999;1.0;0.998	.|.|D;D;D;D;D	.|.|0.87578	.|.|0.977;0.998;0.976;0.998;0.976	D|D|D	0.86104|0.86104|0.86104	0.1558|0.1558|0.1558	5|6|10	.|0.66056|0.62326	.|D|D	.|0.02|0.03	-19.6436|-19.6436|-19.6436	9.9788|9.9788|9.9788	0.41800|0.41800|0.41800	0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0	.|.|.	.|.|143;133;143;133;143	.|.|Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4	.|.|TTC8_HUMAN;.;.;.;.	A|H|S	123|185|133;133;133;143;133	.|.|ENSP00000339486:R133S;ENSP00000298324:R133S;ENSP00000337653:R133S;ENSP00000370031:R143S	.|ENSP00000343586:N185H|ENSP00000337653:R133S	E|N|R	+|+|+	2|1|3	0|0|2	TTC8|TTC8|TTC8	88377233|88377233|88377233	0.925000|0.925000|0.925000	0.31364|0.31364|0.31364	0.943000|0.943000|0.943000	0.38184|0.38184|0.38184	0.827000|0.827000|0.827000	0.46813|0.46813|0.46813	0.162000|0.162000|0.162000	0.16501|0.16501|0.16501	-0.385000|-0.385000|-0.385000	0.07833|0.07833|0.07833	-0.371000|-0.371000|-0.371000	0.07208|0.07208|0.07208	GAA|AAC|AGA		0.532	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		29	317	0	0	0	1	0	29	317				
ERBB4	2066	broad.mit.edu	37	2	212285328	212285328	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285328A>G	ENST00000342788.4	-	25	3283	c.2973T>C	c.(2971-2973)gaT>gaC	p.D991D	ERBB4_ENST00000402597.1_Silent_p.D981D|ERBB4_ENST00000436443.1_Silent_p.D991D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	991					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCTTCATACGATCATCACCCT	0.363										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2971-2973)gaT>gaC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							78.0	76.0	76.0					2																	212285328		2203	4299	6502	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212285328A>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2973T>C	2.37:g.212285328A>G		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Silent_p.D991D|ERBB4_ENST00000402597.1_Silent_p.D981D	p.D991D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	25	3283	-		Renal(323;0.06)|Lung NSC(271;0.197)	991					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.2973T>C	CCDS2394.1																																																																																				0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		72	193	0	0	0	1	0	72	193				
CSF1R	1436	broad.mit.edu	37	5	149439327	149439327	+	Missense_Mutation	SNP	C	C	T	rs141866247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149439327C>T	ENST00000286301.3	-	15	2359	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGTCCTGGCCGGGGCTCAGG	0.582																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(2068-2070)Ggc>Agc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)	C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	63.0	67.0	66.0		2068	3.9	0.2	5	dbSNP_134	66	0,8600		0,0,4300	no	missense	CSF1R	NM_005211.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	690/973	149439327	2,13004	2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149439327C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2068G>A	5.37:g.149439327C>T	ENSP00000286301:p.Gly690Ser						p.G690S	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		15	2359	-			690			Protein kinase.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2068G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999846	0.35320	4.54E-4	0.0	ENSG00000182578	ENST00000286301	T	0.77098	-1.07	4.79	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.588531	0.15014	N	0.285361	T	0.61274	0.2334	L	0.33339	1.005	0.21782	N	0.999544	D	0.54601	0.967	B	0.37888	0.26	T	0.53865	-0.8378	10	0.35671	T	0.21	.	6.1275	0.20187	0.1519:0.6892:0.0:0.1589	.	690	P07333	CSF1R_HUMAN	S	690	ENSP00000286301:G690S	ENSP00000286301:G690S	G	-	1	0	CSF1R	149419520	0.000000	0.05858	0.158000	0.22627	0.047000	0.14425	0.720000	0.25896	1.336000	0.45506	0.561000	0.74099	GGC		0.582	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		86	411	0	0	0	1	0	86	411				
CSRP2BP	57325	broad.mit.edu	37	20	18162409	18162409	+	Missense_Mutation	SNP	G	G	A	rs535177493		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18162409G>A	ENST00000435364.3	+	7	2068	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R575H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	576					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTTTGTATCGCTTGGTAGGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19873	0.001		0.0	False		,,,				2504	0.0					ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(1726-1728)cGc>cAc		CSRP2 binding protein							143.0	136.0	138.0					20																	18162409		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18162409G>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1727G>A	20.37:g.18162409G>A	ENSP00000392318:p.Arg576His					CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.R575H|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.R576H	p.R576H			Q9H8E8	CSR2B_HUMAN			8	2377	+			576					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.1727G>A	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322696	0.95708	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.16897	2.31;2.31;2.31;2.32	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.42189	-0.9466	10	0.87932	D	0	-22.1899	19.3627	0.94446	0.0:0.0:1.0:0.0	.	448;576	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	576;575;576;448	ENSP00000278816:R576H;ENSP00000366909:R575H;ENSP00000392318:R576H;ENSP00000425909:R448H	ENSP00000278816:R576H	R	+	2	0	CSRP2BP	18110409	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.743000	0.91592	2.583000	0.87209	0.563000	0.77884	CGC		0.428	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		98	470	0	0	0	1	0	98	470				
LRRC37BP1	147172	broad.mit.edu	37	17	28964372	28964372	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28964372T>G	ENST00000417404.1	+	0	4630									leucine rich repeat containing 37B pseudogene 1																		TTTAAAATTGTTATTAAATAT	0.299																																						ENST00000417404.1																			0																																																			0							g.chr17:28964372T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28964372T>G						SMURF2P1_ENST00000578265.1_RNA								0	4630	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.299	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		18	97	0	0	0	1	0	18	97				
OSBPL6	114880	broad.mit.edu	37	2	179253867	179253867	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179253867T>C	ENST00000190611.4	+	21	2664	c.2288T>C	c.(2287-2289)cTc>cCc	p.L763P	OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	763					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTTGCAAACTCACATTTGTC	0.338																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2287-2289)cTc>cCc		oxysterol binding protein-like 6							96.0	82.0	87.0					2																	179253867		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179253867T>C	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2288T>C	2.37:g.179253867T>C	ENSP00000190611:p.Leu763Pro					OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P	p.L763P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2664	+			763					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2288T>C	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577262	0.86645	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.65	5.65	0.86999	.	0.059218	0.64402	D	0.000001	T	0.72867	0.3514	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.76494	0.966;0.992;0.966;0.999;0.992	P;D;P;D;D	0.69479	0.894;0.921;0.894;0.964;0.915	T	0.81095	-0.1088	10	0.87932	D	0	-11.915	16.1778	0.81874	0.0:0.0:0.0:1.0	.	732;767;727;788;763	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	P	788;727;732;763;727;767	ENSP00000376293:L788P;ENSP00000352713:L727P;ENSP00000387248:L732P;ENSP00000190611:L763P;ENSP00000386885:L727P;ENSP00000318723:L767P	ENSP00000190611:L763P	L	+	2	0	OSBPL6	178962113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	CTC		0.338	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		65	146	0	0	0	1	0	65	146				
ZNF831	128611	broad.mit.edu	37	20	57767889	57767889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767889G>A	ENST00000371030.2	+	1	1815	c.1815G>A	c.(1813-1815)agG>agA	p.R605R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	605							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGGCGGCAGGAAGTGCGGCC	0.607																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1813-1815)agG>agA		zinc finger protein 831							42.0	49.0	47.0					20																	57767889		2063	4196	6259	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767889G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1815G>A	20.37:g.57767889G>A							p.R605R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1815	+	all_lung(29;0.0085)		605					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1815G>A	CCDS42894.1																																																																																				0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		15	452	0	0	0	1	0	15	452				
MLIP	90523	broad.mit.edu	37	6	53989480	53989480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53989480C>T	ENST00000274897.5	+	3	542	c.429C>T	c.(427-429)agC>agT	p.S143S	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Silent_p.S91S|MLIP_ENST00000514921.1_Silent_p.S143S|MLIP_ENST00000502396.1_Silent_p.S154S|MLIP_ENST00000370876.2_Silent_p.S81S|MLIP_ENST00000358276.5_Silent_p.S137S|MLIP_ENST00000509997.1_Silent_p.S91S	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	143						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCTGCAAGCAGAAAAGTTG	0.517																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(427-429)agC>agT		muscular LMNA-interacting protein							89.0	89.0	89.0					6																	53989480		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53989480C>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.429C>T	6.37:g.53989480C>T						MLIP_ENST00000274897.5_Silent_p.S143S|MLIP_ENST00000509997.1_Silent_p.S91S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Silent_p.S154S|MLIP_ENST00000370877.2_Silent_p.S91S|MLIP_ENST00000370876.2_Silent_p.S81S|MLIP_ENST00000358276.5_Silent_p.S137S	p.S143S			Q5VWP3	MLIP_HUMAN			3	542	+			143					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.429C>T	CCDS4954.1																																																																																				0.517	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		89	471	0	0	0	1	0	89	471				
GSK3B	2932	broad.mit.edu	37	3	119812208	119812208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119812208C>T	ENST00000264235.8	-	1	1056	c.74G>A	c.(73-75)aGc>aAc	p.S25N	GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N|RP11-18H7.1_ENST00000469070.1_lincRNA	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	25					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AACTTTCATGCTGCCAAAAGC	0.468																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(73-75)aGc>aAc		glycogen synthase kinase 3 beta	Lithium(DB01356)						106.0	112.0	110.0					3																	119812208		2203	4300	6503	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119812208C>T	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.74G>A	3.37:g.119812208C>T	ENSP00000264235:p.Ser25Asn					GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N	p.S25N	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	1	1056	-			25					D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.74G>A	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006165	0.19199	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.59906	0.23;0.28	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	N	0.19112	0.55	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25082	-1.0142	10	0.20046	T	0.44	-7.0844	15.0088	0.71533	0.0:1.0:0.0:0.0	.	25;25	P49841;P49841-2	GSK3B_HUMAN;.	N	25	ENSP00000264235:S25N;ENSP00000324806:S25N	ENSP00000264235:S25N	S	-	2	0	GSK3B	121294898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.014000	0.76380	2.118000	0.64928	0.551000	0.68910	AGC		0.468	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			76	425	0	0	0	1	0	76	425				
EPHX4	253152	broad.mit.edu	37	1	92518101	92518101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92518101G>T	ENST00000370383.4	+	6	841	c.743G>T	c.(742-744)gGc>gTc	p.G248V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	248						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CACAGCACTGGCATTGGAAGA	0.338																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(742-744)gGc>gTc		epoxide hydrolase 4							72.0	67.0	69.0					1																	92518101		2203	4300	6503	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92518101G>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.743G>T	1.37:g.92518101G>T	ENSP00000359410:p.Gly248Val						p.G248V	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			6	841	+			248					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.743G>T	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295042	0.81025	.	.	ENSG00000172031	ENST00000370383	T	0.03772	3.81	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.93283	3.4	0.80722	D	1	P	0.51933	0.949	P	0.58331	0.837	T	0.14117	-1.0484	10	0.59425	D	0.04	.	18.4188	0.90582	0.0:0.0:1.0:0.0	.	248	Q8IUS5	EPHX4_HUMAN	V	248	ENSP00000359410:G248V	ENSP00000359410:G248V	G	+	2	0	EPHX4	92290689	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.378000	0.97191	2.343000	0.79666	0.467000	0.42956	GGC		0.338	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		9	124	1	0	7.48243e-07	1	7.73841e-07	9	124				
HRC	3270	broad.mit.edu	37	19	49658323	49658323	+	Missense_Mutation	SNP	G	G	A	rs557094516		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49658323G>A	ENST00000252825.4	-	1	358	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.R58C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	58					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGTGGTGGCGAAGCTCTGCT	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19069	0.0		0.0	False		,,,				2504	0.0				Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(172-174)Cgc>Tgc		histidine rich calcium binding protein							193.0	164.0	174.0					19																	49658323		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658323G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.172C>T	19.37:g.49658323G>A	ENSP00000252825:p.Arg58Cys					HRC_ENST00000595625.1_Missense_Mutation_p.R58C	p.R58C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	358	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	58					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.172C>T	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.619296	0.28801	.	.	ENSG00000130528	ENST00000252825	T	0.07114	3.22	3.26	-0.0384	0.13880	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.04013	0.001	T	0.38824	-0.9643	9	0.72032	D	0.01	-1.5384	4.9026	0.13782	0.0:0.604:0.1801:0.2159	.	58	P23327	SRCH_HUMAN	C	58	ENSP00000252825:R58C	ENSP00000252825:R58C	R	-	1	0	HRC	54350135	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.539000	0.23175	0.070000	0.16634	-0.220000	0.12472	CGC		0.577	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		107	507	0	0	0	1	0	107	507				
CPSF2	53981	broad.mit.edu	37	14	92608558	92608558	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92608558G>A	ENST00000298875.4	+	8	997	c.712G>A	c.(712-714)Gac>Aac	p.D238N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	238					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATAGCAGTGGACACAGCAGG	0.398																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(712-714)Gac>Aac		cleavage and polyadenylation specific factor 2, 100kDa							216.0	192.0	201.0					14																	92608558		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92608558G>A	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.712G>A	14.37:g.92608558G>A	ENSP00000298875:p.Asp238Asn						p.D238N	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	8	997	+		all_cancers(154;0.0766)	238					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.712G>A	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566748	0.96540	.	.	ENSG00000165934	ENST00000298875	T	0.52295	0.67	5.5	5.5	0.81552	.	0.045879	0.85682	D	0.000000	T	0.77212	0.4097	M	0.93763	3.455	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.81466	-0.0920	10	0.46703	T	0.11	.	19.4	0.94625	0.0:0.0:1.0:0.0	.	238	Q9P2I0	CPSF2_HUMAN	N	238	ENSP00000298875:D238N	ENSP00000298875:D238N	D	+	1	0	CPSF2	91678311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.746000	0.98859	2.575000	0.86900	0.563000	0.77884	GAC		0.398	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			140	622	0	0	0	1	0	140	622				
ITPR1	3708	broad.mit.edu	37	3	4856239	4856239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4856239C>T	ENST00000443694.2	+	55	7649	c.7649C>T	c.(7648-7650)tCc>tTc	p.S2550F	AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2550F|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2550F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2565					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGGAAGCCGTCCAAAGAGGTA	0.567																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7648-7650)tCc>tTc		inositol 1,4,5-trisphosphate receptor, type 1							49.0	51.0	50.0					3																	4856239		1974	4134	6108	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4856239C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7649C>T	3.37:g.4856239C>T	ENSP00000401671:p.Ser2550Phe					AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2550F|ITPR1_ENST00000443694.2_Missense_Mutation_p.S2550F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F	p.S2550F			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	57	7999	+			2565					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7649C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921796	0.92319	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97831	-2.97;-2.98;-2.97;-2.97;-2.97;-4.56;-2.97	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.996;1.0;0.968	D	0.99858	1.1079	10	0.87932	D	0	.	18.157	0.89694	0.0:1.0:0.0:0.0	.	528;2565;2517	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	F	2565;2550;2550;2517;1011;2517;2502;528;2550	ENSP00000306253:S2550F;ENSP00000346595:S2550F;ENSP00000405934:S2517F;ENSP00000349597:S2517F;ENSP00000397885:S2502F;ENSP00000440564:S528F;ENSP00000401671:S2550F	ENSP00000306253:S2550F	S	+	2	0	ITPR1	4831239	1.000000	0.71417	0.986000	0.45419	0.937000	0.57800	7.414000	0.80117	2.269000	0.75478	0.650000	0.86243	TCC		0.567	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		6	229	0	0	0	1	0	6	229				
LRSAM1	90678	broad.mit.edu	37	9	130251727	130251727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251727C>T	ENST00000323301.4	+	18	1956	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	451					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTGCAGAGCGCGATGCAGAAG	0.607																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(1351-1353)gCg>gTg		leucine rich repeat and sterile alpha motif containing 1							53.0	44.0	47.0					9																	130251727		2203	4299	6502	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130251727C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1352C>T	9.37:g.130251727C>T	ENSP00000322937:p.Ala451Val					LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V	p.A451V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			18	1956	+			451					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.1352C>T	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114392	0.06881	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.75704	1.46;-0.96;1.46;1.46	5.62	2.17	0.27698	.	0.420350	0.26761	N	0.022630	T	0.53690	0.1812	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.38607	-0.9653	10	0.30854	T	0.27	-0.1491	7.8298	0.29336	0.3344:0.5757:0.0:0.0899	.	451;451	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	V	451	ENSP00000300417:A451V;ENSP00000362421:A451V;ENSP00000322937:A451V;ENSP00000362419:A451V	ENSP00000300417:A451V	A	+	2	0	LRSAM1	129291548	0.921000	0.31238	0.033000	0.17914	0.218000	0.24690	2.470000	0.45119	0.641000	0.30601	0.555000	0.69702	GCG		0.607	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		10	55	0	0	0	1	0	10	55				
DHX30	22907	broad.mit.edu	37	3	47891485	47891485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891485C>T	ENST00000445061.1	+	22	3867	c.3460C>T	c.(3460-3462)Cgc>Tgc	p.R1154C	DHX30_ENST00000446256.2_Missense_Mutation_p.R1115C|DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C|DHX30_ENST00000348968.4_Missense_Mutation_p.R1126C|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1154						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCGGAGCCTGCGCAGCGAGCT	0.692											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3343-3345)Cgc>Tgc		DEAH (Asp-Glu-Ala-His) box helicase 30							19.0	22.0	21.0					3																	47891485		2198	4298	6496	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891485C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3460C>T	3.37:g.47891485C>T	ENSP00000405620:p.Arg1154Cys		OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000445061.1_Missense_Mutation_p.R1154C|DHX30_ENST00000348968.4_Missense_Mutation_p.R1126C|DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C	p.R1115C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	23	3915	+			1154					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3343C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701653	0.30142	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	5.0	5.0	0.66597	.	0.304423	0.35772	N	0.003000	T	0.02342	0.0072	N	0.12182	0.205	0.45056	D	0.998076	B;B	0.17667	0.006;0.023	B;B	0.15484	0.001;0.013	T	0.51896	-0.8647	10	0.41790	T	0.15	.	6.0639	0.19852	0.1895:0.7111:0.0:0.0994	.	1154;1115	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	C	1115;1154;1126;1182	ENSP00000392601:R1115C;ENSP00000405620:R1154C;ENSP00000343442:R1126C;ENSP00000394682:R1182C	ENSP00000343442:R1126C	R	+	1	0	DHX30	47866489	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.043000	0.41231	2.303000	0.77524	0.462000	0.41574	CGC		0.692	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		26	129	0	0	0	1	0	26	129				
CYP2C18	1562	broad.mit.edu	37	10	96447959	96447959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96447959G>T	ENST00000285979.6	+	3	608	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	137					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTTTGGGATGGGGAAGAGGAG	0.478																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(409-411)Ggg>Tgg		cytochrome P450, family 2, subfamily C, polypeptide 18							124.0	116.0	119.0					10																	96447959		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96447959G>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.409G>T	10.37:g.96447959G>T	ENSP00000285979:p.Gly137Trp					CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W|CYP2C19_ENST00000464755.1_3'UTR	p.G137W	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	3	608	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.409G>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	18.84	3.708896	0.68615	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.71461	-0.57;-0.57	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	D	0.89118	0.6624	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92789	0.6247	10	0.87932	D	0	.	14.9723	0.71243	0.0:0.0:1.0:0.0	.	137;137	Q4VAT5;P33260	.;CP2CI_HUMAN	W	137	ENSP00000341293:G137W;ENSP00000285979:G137W	ENSP00000285979:G137W	G	+	1	0	CYP2C18	96437949	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	8.658000	0.91110	2.105000	0.64084	0.306000	0.20318	GGG		0.478	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		88	383	1	0	4.3955e-51	1	5.45232e-51	88	383				
TSC2	7249	broad.mit.edu	37	16	2094713	2094713	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2094713G>A	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Missense_Mutation_p.A156V|NTHL1_ENST00000562951.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGCCCCGCGCCCGCAGTCG	0.642			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219066.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"""E, O"""					0				lung(1)	1						c.(466-468)gCg>gTg	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							45.0	35.0	39.0					16																	2094713		2197	4297	6494	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2094713G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2094713G>A	Exception_encountered						p.A156V	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			3	485	-			156					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.467C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120132	0.37436	.	.	ENSG00000065057	ENST00000219066	D	0.86865	-2.18	5.44	3.27	0.37495	HhH-GPD domain (2);DNA glycosylase (2);	0.492803	0.20963	N	0.082536	D	0.85448	0.5699	M	0.88181	2.935	0.09310	N	1	B;B	0.29936	0.262;0.262	B;B	0.25405	0.06;0.06	T	0.76214	-0.3041	10	0.34782	T	0.22	-13.851	4.9055	0.13797	0.0828:0.1067:0.5665:0.244	.	156;156	E5KTI5;P78549	.;NTHL1_HUMAN	V	156	ENSP00000219066:A156V	ENSP00000219066:A156V	A	-	2	0	NTHL1	2034714	0.957000	0.32711	0.901000	0.35422	0.932000	0.56968	2.873000	0.48475	1.300000	0.44818	0.561000	0.74099	GCG		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		44	172	0	0	0	1	0	44	172				
ATP6V0A4	50617	broad.mit.edu	37	7	138394541	138394541	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138394541C>A	ENST00000310018.2	-	21	2540		c.e21-1		ATP6V0A4_ENST00000353492.4_Splice_Site|ATP6V0A4_ENST00000393054.1_Splice_Site	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCAGACAGTTCTGCAAGGTAC	0.368																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.e21-1		ATPase, H+ transporting, lysosomal V0 subunit a4							67.0	68.0	68.0					7																	138394541		2203	4300	6503	SO:0001630	splice_region_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394541C>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2258-1G>T	7.37:g.138394541C>A						ATP6V0A4_ENST00000393054.1_Splice_Site|ATP6V0A4_ENST00000353492.4_Splice_Site		NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2540	-								A4D1R4|A8KA80|Q32M47	Splice_Site	SNP	ENST00000310018.2	37		CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841343	0.91197	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8636	0.96797	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP6V0A4	138045081	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	.		0.368	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	Intron	53	457	1	0	4.1673e-28	1	4.84001e-28	53	457				
CROCCP2	84809	broad.mit.edu	37	1	16956535	16956535	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16956535G>A	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ACGGCGCCACGCAGGTGTTCC	0.602																																						ENST00000412962.1																			0																																																			0							g.chr1:16956535G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956535G>A														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		15	274	0	0	0	1	0	15	274				
MMP12	4321	broad.mit.edu	37	11	102733744	102733744	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102733744G>A	ENST00000532855.1	-	0	1595							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ATATCTCTAAGTAGTGGTACA	0.264																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102733744G>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102733744G>A										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1595	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.264	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		13	68	0	0	0	1	0	13	68				
ZFYVE16	9765	broad.mit.edu	37	5	79744105	79744105	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79744105T>C	ENST00000338008.5	+	7	3165	c.2985T>C	c.(2983-2985)atT>atC	p.I995I	ZFYVE16_ENST00000510158.1_Silent_p.I995I|ZFYVE16_ENST00000505560.1_Silent_p.I995I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	995					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGCTAGTATTTCAGATTATA	0.368																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2983-2985)atT>atC		zinc finger, FYVE domain containing 16							89.0	85.0	86.0					5																	79744105		2203	4300	6503	SO:0001819	synonymous_variant	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79744105T>C	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2985T>C	5.37:g.79744105T>C						ZFYVE16_ENST00000505560.1_Silent_p.I995I|ZFYVE16_ENST00000510158.1_Silent_p.I995I	p.I995I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	7	3165	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	995					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Silent	SNP	ENST00000338008.5	37	c.2985T>C	CCDS4050.1																																																																																				0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		45	214	0	0	0	1	0	45	214				
AKAP12	9590	broad.mit.edu	37	6	151672017	151672017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672017G>A	ENST00000253332.1	+	3	2680	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T	AKAP12_ENST00000402676.2_Missense_Mutation_p.A831T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	831					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.A831S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTTGAAGACGCAGGGCCAAC	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			1	Substitution - Missense(1)	p.A831S(1)	lung(1)	breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2491-2493)Gca>Aca		A kinase (PRKA) anchor protein 12							86.0	97.0	93.0					6																	151672017		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672017G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2491G>A	6.37:g.151672017G>A	ENSP00000253332:p.Ala831Thr					AKAP12_ENST00000253332.1_Missense_Mutation_p.A831T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T	p.A831T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2731	+		Ovarian(120;0.125)	831					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2491G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.176	0.792683	0.16327	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.9	-9.81	0.00487	.	1.928830	0.02486	N	0.089032	T	0.00936	0.0031	N	0.15975	0.35	0.09310	N	1	B;B;B	0.23891	0.093;0.093;0.056	B;B;B	0.10450	0.005;0.005;0.002	T	0.28902	-1.0029	10	0.12103	T	0.63	.	8.9057	0.35521	0.1667:0.0773:0.5969:0.1591	.	726;733;831	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	831;831;733;726	ENSP00000384537:A831T;ENSP00000253332:A831T;ENSP00000346702:A733T;ENSP00000352794:A726T	ENSP00000253332:A831T	A	+	1	0	AKAP12	151713710	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.241000	0.08940	-2.735000	0.00382	-0.895000	0.02911	GCA		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			151	755	0	0	0	1	0	151	755				
GTDC1	79712	broad.mit.edu	37	2	144764985	144764985	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:144764985A>G	ENST00000392869.2	-	6	791	c.639T>C	c.(637-639)gaT>gaC	p.D213D	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000463875.2_Silent_p.D84D|GTDC1_ENST00000409214.1_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000542155.1_Silent_p.D213D	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	213					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCTTCAATAAATCCTCTGAAT	0.423																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(637-639)gaT>gaC		glycosyltransferase-like domain containing 1							81.0	81.0	81.0					2																	144764985		2203	4300	6503	SO:0001819	synonymous_variant	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144764985A>G	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.639T>C	2.37:g.144764985A>G						GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000542155.1_Silent_p.D213D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000392869.1_Silent_p.D213D|GTDC1_ENST00000463875.2_Silent_p.D84D	p.D213D	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	917	-			213					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	37	c.639T>C	CCDS33300.1																																																																																				0.423	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		35	373	0	0	0	1	0	35	373				
ST5	6764	broad.mit.edu	37	11	8717975	8717975	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8717975C>A	ENST00000534127.1	-	21	3676	c.3291G>T	c.(3289-3291)aaG>aaT	p.K1097N	ST5_ENST00000526099.1_Splice_Site_p.K610N|ST5_ENST00000357665.1_Splice_Site_p.K1097N|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Splice_Site_p.K1097N|ST5_ENST00000530991.1_Splice_Site_p.K569N|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000534278.1_Splice_Site_p.K288N|ST5_ENST00000530438.1_Splice_Site_p.K677N|ST5_ENST00000526757.1_Splice_Site_p.K677N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1097					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAGACTTACCCTTTGCCCGAC	0.488																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.e21+1		suppression of tumorigenicity 5							204.0	219.0	214.0					11																	8717975		2201	4296	6497	SO:0001630	splice_region_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8717975C>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3292+1G>T	11.37:g.8717975C>A						ST5_ENST00000526757.1_Splice_Site_p.K677_splice|ST5_ENST00000530438.1_Splice_Site_p.K677_splice|ST5_ENST00000313726.6_Splice_Site_p.K1097_splice|ST5_ENST00000534278.1_Splice_Site_p.K288_splice|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Splice_Site_p.K569_splice|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000357665.1_Splice_Site_p.K1097_splice|ST5_ENST00000526099.1_Splice_Site_p.K610_splice	p.K1097_splice	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	21	3676	-			1097					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Splice_Site	SNP	ENST00000534127.1	37	c.3292_splice	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042502	0.55003	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.14640	3.0;3.3;3.3;3.01;3.3;3.0;2.49;3.0	5.87	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.52573	1.65	0.58432	D	0.999999	D;B;P	0.69078	0.997;0.389;0.63	D;B;B	0.64687	0.928;0.274;0.358	T	0.01059	-1.1465	10	0.87932	D	0	-16.4162	7.2537	0.26164	0.0:0.6408:0.0:0.3592	.	610;677;1097	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	N	677;1097;1097;569;1097;610;288;677	ENSP00000435097:K677N;ENSP00000433528:K1097N;ENSP00000319678:K1097N;ENSP00000432887:K569N;ENSP00000350294:K1097N;ENSP00000436808:K610N;ENSP00000433349:K288N;ENSP00000436802:K677N	ENSP00000319678:K1097N	K	-	3	2	ST5	8674551	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.892000	0.39748	0.841000	0.35020	-0.140000	0.14226	AAG		0.488	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	Missense_Mutation	280	1310	1	0	1.29601e-68	1	1.64372e-68	280	1310				
TTC39C	125488	broad.mit.edu	37	18	21660833	21660833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21660833G>T	ENST00000317571.3	+	5	981	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	249										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTCCTGGAGACCGCCTACA	0.478																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(745-747)Gac>Tac		tetratricopeptide repeat domain 39C							70.0	70.0	70.0					18																	21660833		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21660833G>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.745G>T	18.37:g.21660833G>T	ENSP00000323645:p.Asp249Tyr					TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y|RP11-403A21.3_ENST00000578443.1_RNA	p.D249Y	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			5	981	+			249					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.745G>T	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.703674	0.88924	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73994	-0.3807	10	0.87932	D	0	-21.0511	20.023	0.97509	0.0:0.0:1.0:0.0	.	249	Q8N584	TT39C_HUMAN	Y	188;249	ENSP00000306598:D188Y;ENSP00000323645:D249Y	ENSP00000306598:D188Y	D	+	1	0	TTC39C	19914831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.733000	0.93635	0.552000	0.68991	GAC		0.478	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		8	260	1	0	0.0477658	1	0.0478703	8	260				
ITGAV	3685	broad.mit.edu	37	2	187503034	187503034	+	Missense_Mutation	SNP	G	G	T	rs199603191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503034G>T	ENST00000261023.3	+	9	1107	c.833G>T	c.(832-834)aGg>aTg	p.R278M	ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M|ITGAV_ENST00000374907.3_Missense_Mutation_p.R242M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	278					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	AGAGCAGCAAGGACTTTGGGA	0.333																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(832-834)aGg>aTg		integrin, alpha V							92.0	93.0	93.0					2																	187503034		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187503034G>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.833G>T	2.37:g.187503034G>T	ENSP00000261023:p.Arg278Met					ITGAV_ENST00000374907.3_Missense_Mutation_p.R242M|ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M	p.R278M	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	9	1107	+			278					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.833G>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707136	0.68615	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.68025	-0.3;-0.3;-0.3	5.43	5.43	0.79202	.	0.146549	0.64402	D	0.000008	T	0.65112	0.2660	N	0.17594	0.5	0.44036	D	0.996766	D;B;D	0.62365	0.991;0.082;0.991	P;B;P	0.62491	0.903;0.037;0.903	T	0.63382	-0.6650	10	0.30854	T	0.27	.	12.5628	0.56293	0.076:0.0:0.924:0.0	.	232;242;278	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	M	278;278;242;232	ENSP00000261023:R278M;ENSP00000364042:R242M;ENSP00000404291:R232M	ENSP00000261023:R278M	R	+	2	0	ITGAV	187211279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.040000	0.57333	2.548000	0.85928	0.643000	0.83706	AGG		0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		8	258	1	0	0.000157383	1	0.000159814	8	258				
POU3F2	5454	broad.mit.edu	37	6	99283976	99283976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99283976G>T	ENST00000328345.5	+	1	1397	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	409					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GACAGAAAGAGAAAAGGATGA	0.627																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(1225-1227)gaG>gaT		POU class 3 homeobox 2							53.0	64.0	60.0					6																	99283976		2203	4300	6503	SO:0001583	missense	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283976G>T	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1227G>T	6.37:g.99283976G>T	ENSP00000329170:p.Glu409Asp						p.E409D	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1397	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	409					Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	c.1227G>T	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727850	0.69074	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.96522	-4.04	4.51	4.51	0.55191	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	U	0.000003	D	0.96191	0.8758	L	0.58925	1.835	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	D	0.96662	0.9490	10	0.87932	D	0	.	16.1405	0.81519	0.0:0.0:1.0:0.0	.	409	P20265	PO3F2_HUMAN	D	409;342	ENSP00000329170:E409D	ENSP00000329170:E409D	E	+	3	2	POU3F2	99390697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.519000	0.67074	2.330000	0.79161	0.555000	0.69702	GAG		0.627	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			76	412	1	0	8.16569e-41	1	9.9098e-41	76	412				
PTPN4	5775	broad.mit.edu	37	2	120692377	120692377	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692377C>T	ENST00000263708.2	+	15	1969	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	PTPN4_ENST00000544261.1_Splice_Site_p.R33*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	400					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTATTTAGTCGAAATTCTAC	0.368																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.e15-1		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						84.0	78.0	80.0					2																	120692377		2203	4300	6503	SO:0001630	splice_region_variant	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120692377C>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1197-1C>T	2.37:g.120692377C>T						PTPN4_ENST00000544261.1_Splice_Site_p.R33_splice	p.R400_splice	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			15	1969	+			400					B2RBV8|Q9UDA7	Splice_Site	SNP	ENST00000263708.2	37	c.1196_splice	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167818	0.94768	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	.	.	.	5.77	5.77	0.91146	.	0.187463	0.45126	D	0.000395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	400;33;26	.	ENSP00000263708:R400X	R	+	1	2	PTPN4	120408847	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.444000	0.66587	2.890000	0.99128	0.650000	0.86243	CGA		0.368	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2		Nonsense_Mutation	17	184	0	0	0	1	0	17	184				
GPM6A	2823	broad.mit.edu	37	4	176573004	176573004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:176573004G>T	ENST00000280187.7	-	5	567	c.522C>A	c.(520-522)tgC>tgA	p.C174*	GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	174					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAAGGTCCAAGCAGAGATTTG	0.448																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(520-522)tgC>tgA		glycoprotein M6A							145.0	136.0	139.0					4																	176573004		2203	4300	6503	SO:0001587	stop_gained	2823					cell surface|integral to membrane		g.chr4:176573004G>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.522C>A	4.37:g.176573004G>T	ENSP00000280187:p.Cys174*					GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*	p.C174*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	5	567	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	174					B7Z642|E9PHI5|Q92602	Nonsense_Mutation	SNP	ENST00000280187.7	37	c.522C>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.723191	0.96847	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.9161	14.235	0.65919	0.0712:0.0:0.9288:0.0	.	.	.	.	X	174;174;163;167;166;111;111	.	ENSP00000280187:C174X	C	-	3	2	GPM6A	176809998	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	6.327000	0.72910	2.822000	0.97130	0.650000	0.86243	TGC		0.448	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			60	352	1	0	1.72039e-30	1	2.01868e-30	60	352				
SOCS5	9655	broad.mit.edu	37	2	46986474	46986474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46986474C>T	ENST00000306503.5	+	2	977	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	269					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGAGAAGGCGGCTTAGTAT	0.408																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(805-807)Cgg>Tgg		suppressor of cytokine signaling 5							51.0	51.0	51.0					2																	46986474		2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986474C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.805C>T	2.37:g.46986474C>T	ENSP00000305133:p.Arg269Trp					SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	p.R269W	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	977	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	269					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.805C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264813	0.40095	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.38401	1.14;1.14	5.43	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.66939	2.045	0.50467	D	0.999877	D	0.89917	1.0	D	0.81914	0.995	T	0.52351	-0.8587	10	0.72032	D	0.01	-11.791	7.3985	0.26950	0.4338:0.4875:0.0:0.0787	.	269	O75159	SOCS5_HUMAN	W	269	ENSP00000305133:R269W;ENSP00000378330:R269W	ENSP00000305133:R269W	R	+	1	2	SOCS5	46839978	0.995000	0.38212	0.795000	0.32087	0.936000	0.57629	3.253000	0.51469	0.824000	0.34613	0.655000	0.94253	CGG		0.408	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			15	341	0	0	0	1	0	15	341				
FAT1	2195	broad.mit.edu	37	4	187540407	187540407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540407C>A	ENST00000441802.2	-	10	7542	c.7333G>T	c.(7333-7335)Ggg>Tgg	p.G2445W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2445	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAATCCCTGTTGCACTG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7333-7335)Ggg>Tgg		FAT atypical cadherin 1							148.0	154.0	152.0					4																	187540407		2059	4199	6258	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540407C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7333G>T	4.37:g.187540407C>A	ENSP00000406229:p.Gly2445Trp	HNSCC(5;0.00058)					p.G2445W	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7542	-			2445			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7333G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.683930	0.47991	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04654	3.58	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	2445	Q14517	FAT1_HUMAN	W	2445;2447	ENSP00000406229:G2445W	ENSP00000260147:G2447W	G	-	1	0	FAT1	187777401	1.000000	0.71417	0.640000	0.29408	0.113000	0.19764	7.609000	0.82925	2.890000	0.99128	0.650000	0.86243	GGG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		61	601	1	0	3.40343e-31	1	4.00304e-31	61	601				
RASGRP1	10125	broad.mit.edu	37	15	38803860	38803860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38803860C>T	ENST00000310803.5	-	8	1088	c.911G>A	c.(910-912)aGc>aAc	p.S304N	RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	304	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CGAGATTGAGCTGTGACACAG	0.488																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(910-912)aGc>aAc		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							125.0	125.0	125.0					15																	38803860		1996	4175	6171	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38803860C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.911G>A	15.37:g.38803860C>T	ENSP00000310244:p.Ser304Asn					RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N	p.S304N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	8	1088	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	304			Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.911G>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046704	0.93740	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.999;0.998	T	0.64753	-0.6333	10	0.87932	D	0	-24.3189	19.0978	0.93260	0.0:1.0:0.0:0.0	.	304;304;304;304	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	N	304;304;304;304;256;304;304	ENSP00000310244:S304N;ENSP00000388540:S304N;ENSP00000444762:S256N;ENSP00000413105:S304N	ENSP00000310244:S304N	S	-	2	0	RASGRP1	36591152	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.735000	0.93741	0.655000	0.94253	AGC		0.488	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		75	282	0	0	0	1	0	75	282				
TESK2	10420	broad.mit.edu	37	1	45811107	45811107	+	Missense_Mutation	SNP	C	C	T	rs373750301		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45811107C>T	ENST00000372086.3	-	11	1521	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000538496.1_Missense_Mutation_p.R291H|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	374					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGGGGGCTTACGGGAAAAGAT	0.557																																						ENST00000372086.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1120-1122)cGt>cAt		testis-specific kinase 2		C	HIS/ARG	8,3988		0,8,1990	54.0	55.0	55.0		1121	-4.9	0.1	1		55	0,8294		0,0,4147	yes	missense	TESK2	NM_007170.2	29	0,8,6137	TT,TC,CC		0.0,0.2002,0.0651	benign	374/572	45811107	8,12282	1998	4147	6145	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45811107C>T	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1121G>A	1.37:g.45811107C>T	ENSP00000361158:p.Arg374His					TESK2_ENST00000538496.1_Missense_Mutation_p.R291H|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H	p.R374H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN			11	1521	-	Acute lymphoblastic leukemia(166;0.155)		374					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.1121G>A	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	C	5.013	0.188162	0.09547	0.002002	0.0	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.76316	-0.91;-0.75;-0.91;-1.01	5.96	-4.89	0.03103	.	0.861689	0.10499	N	0.667433	T	0.64549	0.2608	L	0.33485	1.01	0.09310	N	0.999995	B;B	0.16603	0.018;0.005	B;B	0.11329	0.006;0.002	T	0.46707	-0.9172	10	0.30854	T	0.27	1.9518	14.1925	0.65646	0.0:0.443:0.0:0.557	.	345;374	Q96S53-3;Q96S53	.;TESK2_HUMAN	H	345;374;358;345;291	ENSP00000361156:R345H;ENSP00000361158:R374H;ENSP00000343940:R345H;ENSP00000441746:R291H	ENSP00000343940:R345H	R	-	2	0	TESK2	45583694	0.999000	0.42202	0.070000	0.20053	0.149000	0.21700	0.757000	0.26433	-0.828000	0.04273	-0.136000	0.14681	CGT		0.557	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		26	273	0	0	0	1	0	26	273				
CCDC101	112869	broad.mit.edu	37	16	28596992	28596992	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28596992C>T	ENST00000317058.3	+	4	362	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	59					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CCGGACAAAGCTGCGTGGCCT	0.597																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(175-177)Ctg>Ttg		coiled-coil domain containing 101							121.0	87.0	98.0					16																	28596992		2197	4300	6497	SO:0001819	synonymous_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28596992C>T	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.175C>T	16.37:g.28596992C>T							p.L59L	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			4	362	+			59					Q96MF5	Silent	SNP	ENST00000317058.3	37	c.175C>T	CCDS10635.1																																																																																				0.597	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		74	309	0	0	0	1	0	74	309				
TRIM2	23321	broad.mit.edu	37	4	154216921	154216921	+	Missense_Mutation	SNP	A	A	G	rs111861590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216921A>G	ENST00000437508.2	+	6	1363	c.1162A>G	c.(1162-1164)Acc>Gcc	p.T388A	TRIM2_ENST00000338700.5_Missense_Mutation_p.T415A|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	388					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAAGAACGGCACCTATGAGTT	0.567																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1243-1245)Acc>Gcc		tripartite motif containing 2							124.0	120.0	122.0					4																	154216921		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216921A>G	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1162A>G	4.37:g.154216921A>G	ENSP00000415812:p.Thr388Ala					TRIM2_ENST00000437508.2_Missense_Mutation_p.T388A|TRIM2_ENST00000494872.1_3'UTR	p.T415A	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1308	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	388					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1243A>G	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426009	0.83667	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.87887	-2.31;-2.31	5.59	5.59	0.84812	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.043072	0.85682	D	0.000000	D	0.94860	0.8339	M	0.92077	3.27	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.74348	0.983;0.983	D	0.95673	0.8725	10	0.59425	D	0.04	-13.6538	15.7668	0.78131	1.0:0.0:0.0:0.0	.	415;388	D3DP09;Q9C040	.;TRIM2_HUMAN	A	388;415	ENSP00000415812:T388A;ENSP00000339659:T415A	ENSP00000339659:T415A	T	+	1	0	TRIM2	154436371	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.867000	0.92314	2.134000	0.65973	0.459000	0.35465	ACC		0.567	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			52	300	0	0	0	1	0	52	300				
RCN3	57333	broad.mit.edu	37	19	50045888	50045888	+	Missense_Mutation	SNP	G	G	A	rs543008006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50045888G>A	ENST00000270645.3	+	6	1205	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	253	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CGGGACTTCCGGGATCTGAAC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14454	0.001		0.0	False		,,,				2504	0.0					ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(757-759)cGg>cAg		reticulocalbin 3, EF-hand calcium binding domain							36.0	37.0	37.0					19																	50045888		2200	4300	6500	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50045888G>A	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.758G>A	19.37:g.50045888G>A	ENSP00000270645:p.Arg253Gln						p.R253Q	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	6	1205	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	253			EF-hand 5.		Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.758G>A	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588961	0.96590	.	.	ENSG00000142552	ENST00000270645	T	0.54479	0.57	5.16	5.16	0.70880	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76876	-0.2797	10	0.30078	T	0.28	-30.9967	17.4697	0.87642	0.0:0.0:1.0:0.0	.	253	Q96D15	RCN3_HUMAN	Q	253	ENSP00000270645:R253Q	ENSP00000270645:R253Q	R	+	2	0	RCN3	54737700	1.000000	0.71417	0.977000	0.42913	0.794000	0.44872	9.121000	0.94375	2.421000	0.82119	0.650000	0.86243	CGG		0.682	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		5	60	0	0	0	1	0	5	60				
TIMELESS	8914	broad.mit.edu	37	12	56811983	56811983	+	Missense_Mutation	SNP	C	C	T	rs145585280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56811983C>T	ENST00000553532.1	-	27	3539	c.3389G>A	c.(3388-3390)cGa>cAa	p.R1130Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R1129Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGCTTGTGCTCGGTGCTCTTT	0.552																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(3385-3387)cGa>cAa		timeless circadian clock		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	162.0	171.0	168.0		3389	-5.1	0.0	12	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMELESS	NM_003920.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	1130/1209	56811983	2,13004	2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811983C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3389G>A	12.37:g.56811983C>T	ENSP00000450607:p.Arg1130Gln					TIMELESS_ENST00000553532.1_Missense_Mutation_p.R1130Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q	p.R1129Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			27	3540	-			1130						Missense_Mutation	SNP	ENST00000553532.1	37	c.3386G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238406	0.39598	2.27E-4	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11277	2.79;2.79;2.79	5.37	-5.08	0.02929	Timeless C-terminal (1);	0.863170	0.10042	N	0.723288	T	0.03651	0.0104	N	0.04043	-0.29	0.09310	N	1	B	0.19331	0.035	B	0.10450	0.005	T	0.47699	-0.9097	10	0.13108	T	0.6	-0.0036	8.9244	0.35632	0.0:0.3483:0.1039:0.5478	.	1130	Q9UNS1	TIM_HUMAN	Q	1129;1130;627	ENSP00000229201:R1129Q;ENSP00000450607:R1130Q;ENSP00000450848:R627Q	ENSP00000229201:R1130Q	R	-	2	0	TIMELESS	55098250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.142000	0.16096	-0.647000	0.05444	-0.126000	0.14955	CGA		0.552	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		208	1008	0	0	0	1	0	208	1008				
MSL2	55167	broad.mit.edu	37	3	135870542	135870542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135870542G>A	ENST00000309993.2	-	2	1913	c.1181C>T	c.(1180-1182)aCa>aTa	p.T394I	MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	394					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GATTTTAGGTGTTGTGCCTCC	0.428																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1180-1182)aCa>aTa		male-specific lethal 2 homolog (Drosophila)							152.0	151.0	151.0					3																	135870542		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870542G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1181C>T	3.37:g.135870542G>A	ENSP00000311827:p.Thr394Ile					MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	p.T394I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	1913	-			394					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1181C>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	5.834	0.338085	0.11013	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.84	4.06	0.47325	.	0.408916	0.26796	N	0.022447	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.14531	-1.0469	9	0.19590	T	0.45	-1.9985	11.9761	0.53091	0.14:0.0:0.86:0.0	.	394	Q9HCI7	MSL2_HUMAN	I	394;320	.	ENSP00000311827:T394I	T	-	2	0	MSL2	137353232	0.998000	0.40836	0.016000	0.15963	0.876000	0.50452	5.843000	0.69424	0.818000	0.34468	0.551000	0.68910	ACA		0.428	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		91	389	0	0	0	1	0	91	389				
DPP3	10072	broad.mit.edu	37	11	66249865	66249865	+	Missense_Mutation	SNP	G	G	A	rs202184719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66249865G>A	ENST00000360510.2	+	2	259	c.194G>A	c.(193-195)cGc>cAc	p.R65H	CTD-3074O7.5_ENST00000533502.1_RNA|DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000532677.1_Missense_Mutation_p.R84H|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000531863.1_Missense_Mutation_p.R85H			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	65					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGCTCAGCCGCCTCTTCCGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18121	0.0		0.0	False		,,,				2504	0.001					ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(250-252)cGc>cAc		dipeptidyl-peptidase 3							45.0	46.0	45.0					11																	66249865		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66249865G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.194G>A	11.37:g.66249865G>A	ENSP00000353701:p.Arg65His					DPP3_ENST00000531863.1_Missense_Mutation_p.R85H|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000360510.2_Missense_Mutation_p.R65H|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H	p.R84H	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			2	652	+			65					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.251G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518934	0.85495	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000526515;ENST00000530165;ENST00000347422;ENST00000531314;ENST00000531354	T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.71	4.81	0.61882	.	0.155567	0.52532	N	0.000063	T	0.66147	0.2760	M	0.75615	2.305	0.42527	D	0.993026	D;D	0.89917	1.0;0.981	D;P	0.67900	0.954;0.548	T	0.70883	-0.4751	10	0.72032	D	0.01	.	12.79	0.57528	0.0792:0.0:0.9208:0.0	.	84;65	G3V1D3;Q9NY33	.;DPP3_HUMAN	H	85;84;65;65;65;65;65;65;65;65	ENSP00000432782:R85H;ENSP00000435284:R84H;ENSP00000353701:R65H;ENSP00000389943:R65H;ENSP00000440502:R65H;ENSP00000431606:R65H;ENSP00000436941:R65H;ENSP00000436820:R65H;ENSP00000432618:R65H	ENSP00000309957:R65H	R	+	2	0	DPP3	66006441	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.129000	0.42055	1.426000	0.47256	-0.222000	0.12452	CGC		0.642	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			12	406	0	0	0	1	0	12	406				
SAFB	6294	broad.mit.edu	37	19	5641869	5641869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5641869C>A	ENST00000292123.5	+	4	565	c.458C>A	c.(457-459)gCt>gAt	p.A153D	SAFB_ENST00000588852.1_Missense_Mutation_p.A153D|SAFB_ENST00000592224.1_Missense_Mutation_p.A153D|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000586934.1_3'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	153					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GACGATGATGCTGATAACCTC	0.488																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(457-459)gCt>gAt		scaffold attachment factor B							131.0	127.0	129.0					19																	5641869		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5641869C>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.458C>A	19.37:g.5641869C>A	ENSP00000292123:p.Ala153Asp					SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.A153D|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000588852.1_Missense_Mutation_p.A153D	p.A153D	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	4	565	+			153					A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.458C>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457123	0.12283	.	.	ENSG00000160633	ENST00000292123	T	0.11712	2.75	5.47	4.42	0.53409	.	0.242758	0.29501	N	0.011962	T	0.12987	0.0315	M	0.62723	1.935	0.48571	D	0.999677	B;B;B;B;B	0.27823	0.023;0.19;0.052;0.052;0.052	B;B;B;B;B	0.27608	0.013;0.081;0.021;0.028;0.021	T	0.04737	-1.0930	10	0.17369	T	0.5	-5.9997	13.5464	0.61707	0.1611:0.8389:0.0:0.0	.	153;153;153;153;153	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	D	153	ENSP00000292123:A153D	ENSP00000292123:A153D	A	+	2	0	SAFB	5592869	0.025000	0.19082	0.015000	0.15790	0.350000	0.29205	2.814000	0.48010	1.239000	0.43787	0.557000	0.71058	GCT		0.488	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			91	402	1	0	9.07295e-45	1	1.11094e-44	91	402				
RNF215	200312	broad.mit.edu	37	22	30782666	30782666	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30782666T>C	ENST00000382363.3	-	2	442	c.368A>G	c.(367-369)cAg>cGg	p.Q123R		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	123						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CTGGTGGAACTGGGCCGCCTG	0.637																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(367-369)cAg>cGg		ring finger protein 215							63.0	63.0	63.0					22																	30782666		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30782666T>C		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.368A>G	22.37:g.30782666T>C	ENSP00000371800:p.Gln123Arg						p.Q123R	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			2	442	-			123					A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.368A>G	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951642	0.53186	.	.	ENSG00000099999	ENST00000382363;ENST00000431544	T	0.18338	2.22	4.14	1.8	0.24995	.	0.000000	0.31821	N	0.007003	T	0.09024	0.0223	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.20438	-1.0275	10	0.37606	T	0.19	-0.0969	8.0584	0.30619	0.0:0.0:0.4105:0.5895	.	123	Q9Y6U7	RN215_HUMAN	R	123;28	ENSP00000371800:Q123R	ENSP00000371800:Q123R	Q	-	2	0	RNF215	29112666	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	0.145000	0.16157	0.199000	0.20427	0.529000	0.55759	CAG		0.637	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		73	311	0	0	0	1	0	73	311				
DHX57	90957	broad.mit.edu	37	2	39053104	39053104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39053104G>A	ENST00000295373.6	-	16	3025	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	967	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GATGCAACACGGCCTGCTCGG	0.428																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2899-2901)Cgt>Tgt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							102.0	97.0	99.0					2																	39053104		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053104G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2899C>T	2.37:g.39053104G>A	ENSP00000295373:p.Arg967Cys						p.R967C	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			16	3025	-		all_hematologic(82;0.248)	967			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2899C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185001|5.185001	0.94885|0.94885	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	.|D	.|0.94793	.|-3.52	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Helicase, C-terminal (3);	.|0.000000	.|0.56097	.|D	.|0.000036	D|D	0.98551|0.98551	0.9516|0.9516	H|H	0.98155|0.98155	4.16|4.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99379|0.99379	1.0922|1.0922	5|10	.|0.87932	.|D	.|0	.|.	19.7628|19.7628	0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967;359	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	L|C	290|967	.|ENSP00000295373:R967C	.|ENSP00000295373:R967C	P|R	-|-	2|1	0|0	DHX57|DHX57	38906608|38906608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.338000|9.338000	0.96553|0.96553	2.672000|2.672000	0.90937|0.90937	0.555000|0.555000	0.69702|0.69702	CCG|CGT		0.428	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		115	315	0	0	0	1	0	115	315				
NCAPD3	23310	broad.mit.edu	37	11	134079098	134079098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134079098G>A	ENST00000534548.2	-	6	799	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	245					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGAAACAAAGACCTAGAAAA	0.358																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(733-735)gtC>gtT		non-SMC condensin II complex, subunit D3							116.0	130.0	125.0					11																	134079098		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134079098G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.735C>T	11.37:g.134079098G>A							p.V245V	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	6	799	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	245					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.735C>T	CCDS31723.1																																																																																				0.358	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		145	652	0	0	0	1	0	145	652				
CREB3L2	64764	broad.mit.edu	37	7	137612945	137612945	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137612945C>T	ENST00000330387.6	-	2	621	c.270G>A	c.(268-270)cgG>cgA	p.R90R	CREB3L2_ENST00000458726.1_Silent_p.R27R|CREB3L2_ENST00000456390.1_Silent_p.R90R|CREB3L2_ENST00000452463.1_Silent_p.R90R	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	90					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGACTGGGCCCGAGGCTCCT	0.587			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(268-270)cgG>cgA		cAMP responsive element binding protein 3-like 2							52.0	41.0	45.0					7																	137612945		2202	4300	6502	SO:0001819	synonymous_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137612945C>T	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.270G>A	7.37:g.137612945C>T						CREB3L2_ENST00000452463.1_Silent_p.R90R|CREB3L2_ENST00000456390.1_Silent_p.R90R|CREB3L2_ENST00000458726.1_Silent_p.R27R	p.R90R	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			2	621	-			90					Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	37	c.270G>A	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938089	0.34189	.	.	ENSG00000182158	ENST00000420629	T	0.57595	0.39	5.42	1.3	0.21679	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	6	0.87932	D	0	-8.1521	6.3579	0.21412	0.0:0.3595:0.3711:0.2694	.	.	.	.	E	24	ENSP00000402889:G24E	ENSP00000402889:G24E	G	-	2	0	CREB3L2	137263485	0.645000	0.27286	0.996000	0.52242	0.990000	0.78478	-0.387000	0.07361	0.251000	0.21505	0.655000	0.94253	GGG		0.587	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		16	66	0	0	0	1	0	16	66				
MUC6	4588	broad.mit.edu	37	11	1028689	1028689	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028689C>A	ENST00000421673.2	-	13	1598	c.1548G>T	c.(1546-1548)caG>caT	p.Q516H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	516	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACATAGGCCTGGAAGATGG	0.627																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1546-1548)caG>caT		mucin 6, oligomeric mucus/gel-forming							36.0	41.0	40.0					11																	1028689		2089	4202	6291	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028689C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1548G>T	11.37:g.1028689C>A	ENSP00000406861:p.Gln516His						p.Q516H	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1598	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	516			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1548G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371993	0.24857	.	.	ENSG00000184956	ENST00000421673	T	0.60548	0.18	4.34	2.37	0.29283	von Willebrand factor, type D domain (3);	0.000000	0.29987	U	0.010684	T	0.67192	0.2867	L	0.55743	1.74	0.30497	N	0.770732	D	0.89917	1.0	D	0.79784	0.993	T	0.65961	-0.6041	10	0.87932	D	0	.	9.1739	0.37100	0.0:0.8102:0.0:0.1898	.	516	Q6W4X9	MUC6_HUMAN	H	516	ENSP00000406861:Q516H	ENSP00000406861:Q516H	Q	-	3	2	MUC6	1018689	0.040000	0.19996	0.834000	0.33040	0.213000	0.24496	0.097000	0.15168	0.940000	0.37473	0.313000	0.20887	CAG		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		14	97	1	0	0.0167234	1	0.0167961	14	97				
ZBTB20	26137	broad.mit.edu	37	3	114069836	114069836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069836G>A	ENST00000474710.1	-	4	1267	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20_ENST00000393785.2_Silent_p.A290A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.A290A|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.A290A|ZBTB20_ENST00000462705.1_Silent_p.A290A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.A290A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	363						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGCCCTCGGCCTGGTCTG	0.602																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(868-870)gcC>gcT		zinc finger and BTB domain containing 20							96.0	66.0	76.0					3																	114069836		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069836G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1089C>T	3.37:g.114069836G>A						ZBTB20_ENST00000357258.3_Silent_p.A290A|ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20_ENST00000474710.1_Silent_p.A363A|ZBTB20_ENST00000393785.2_Silent_p.A290A|ZBTB20_ENST00000481632.1_Silent_p.A290A|ZBTB20_ENST00000464560.1_Silent_p.A290A	p.A290A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1691	-			363					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.870C>T	CCDS54626.1																																																																																				0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		82	278	0	0	0	1	0	82	278				
LAMTOR3	8649	broad.mit.edu	37	4	100805266	100805266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100805266C>T	ENST00000499666.2	-	6	446	c.254G>A	c.(253-255)cGt>cAt	p.R85H	LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.R78H	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	85					cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Ragulator complex (GO:0071986)				endometrium(1)|large_intestine(1)|lung(1)	3						CAAAGGTAAACGATTAAATTG	0.289																																						ENST00000499666.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(253-255)cGt>cAt		late endosomal/lysosomal adaptor, MAPK and MTOR activator 3							56.0	61.0	59.0					4																	100805266		2203	4299	6502	SO:0001583	missense	8649				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding	g.chr4:100805266C>T	AF201947	CCDS3652.1, CCDS58920.1	4q24-q26	2012-02-28	2011-02-15	2011-02-15	ENSG00000109270	ENSG00000109270			15606	protein-coding gene	gene with protein product	"""MEK partner 1"""	603296	"""mitogen-activated protein kinase kinase 1 interacting protein 1"", ""MAPK scaffold protein 1"""	MAP2K1IP1, MAPKSP1		9733512, 15016825	Standard	NM_021970		Approved	MP1, MAPBP, Ragulator3	uc003hvg.2	Q9UHA4	OTTHUMG00000131050	ENST00000499666.2:c.254G>A	4.37:g.100805266C>T	ENSP00000424183:p.Arg85His					LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.R78H	p.R85H	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN			6	446	-			85					B2R4A1|J3KMX4|Q9H364	Missense_Mutation	SNP	ENST00000499666.2	37	c.254G>A	CCDS3652.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340133	0.60963	.	.	ENSG00000109270	ENST00000499666;ENST00000226522	.	.	.	4.85	4.85	0.62838	.	0.054326	0.85682	D	0.000000	T	0.43299	0.1241	L	0.27053	0.805	0.80722	D	1	B;B	0.17465	0.011;0.022	B;B	0.09377	0.003;0.004	T	0.30966	-0.9960	9	0.40728	T	0.16	.	11.9349	0.52868	0.0:0.9203:0.0:0.0797	.	85;85	Q53FH6;Q9UHA4	.;LTOR3_HUMAN	H	85;78	.	ENSP00000226522:R78H	R	-	2	0	LAMTOR3	101024289	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.206000	0.65192	2.676000	0.91093	0.591000	0.81541	CGT		0.289	LAMTOR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253698.2	NM_021970		52	176	0	0	0	1	0	52	176				
ACACA	31	broad.mit.edu	37	17	35486405	35486405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35486405G>A	ENST00000394406.2	-	47	5909	c.5719C>T	c.(5719-5721)Cac>Tac	p.H1907Y	ACACA_ENST00000353139.5_Missense_Mutation_p.H1944Y|ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y|ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1907	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTGAACTGTGCACGCTCTAA	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(5830-5832)Cac>Tac		acetyl-CoA carboxylase alpha	Biotin(DB00121)						103.0	93.0	97.0					17																	35486405		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35486405G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5719C>T	17.37:g.35486405G>A	ENSP00000377928:p.His1907Tyr					ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000394406.2_Missense_Mutation_p.H1907Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y|ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y	p.H1944Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			47	6311	-		Breast(25;0.00157)|Ovarian(249;0.15)	1907			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.5830C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345306	0.24426	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43	5.24	0.302	0.15786	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.757705	0.13474	N	0.385185	D	0.89181	0.6642	N	0.04959	-0.14	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.81709	-0.0809	10	0.51188	T	0.08	1.3312	4.0255	0.09685	0.5187:0.0:0.3028:0.1785	.	606;1944;1907;1849	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	Y	1944;1849;1907;1931;1829;606;33	ENSP00000344789:H1944Y;ENSP00000353898:H1849Y;ENSP00000377928:H1907Y;ENSP00000335323:H1829Y;ENSP00000354565:H33Y	ENSP00000335323:H1829Y	H	-	1	0	ACACA	32560518	0.155000	0.22806	0.295000	0.24960	0.978000	0.69477	0.739000	0.26173	0.118000	0.18165	0.591000	0.81541	CAC		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		24	177	0	0	0	1	0	24	177				
PVRL1	5818	broad.mit.edu	37	11	119535972	119535972	+	Missense_Mutation	SNP	G	G	A	rs201959047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535972G>A	ENST00000264025.3	-	6	1569	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	347					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCGGCGCGCCGCCCATGTTCG	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14227	0.0		0.0	False		,,,				2504	0.0					ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1039-1041)Cgg>Tgg		poliovirus receptor-related 1 (herpesvirus entry mediator C)							21.0	25.0	24.0					11																	119535972		2199	4288	6487	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535972G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1039C>T	11.37:g.119535972G>A	ENSP00000264025:p.Arg347Trp					PVRL1_ENST00000341398.2_Intron	p.R347W	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1569	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	347					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1039C>T	CCDS8426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	14.99	2.700809	0.48307	.	.	ENSG00000110400	ENST00000264025	T	0.76186	-1.0	4.32	3.32	0.38043	.	0.288701	0.29822	N	0.011103	T	0.57330	0.2046	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60177	-0.7314	10	0.66056	D	0.02	.	2.4483	0.04511	0.1109:0.1906:0.5019:0.1966	.	347	Q15223	PVRL1_HUMAN	W	347	ENSP00000264025:R347W	ENSP00000264025:R347W	R	-	1	2	PVRL1	119041182	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.455000	0.44988	2.108000	0.64289	0.479000	0.44913	CGG		0.672	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			46	199	0	0	0	1	0	46	199				
ZNF346	23567	broad.mit.edu	37	5	176477887	176477887	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477887T>C	ENST00000358149.3	+	5	696	c.653T>C	c.(652-654)cTa>cCa	p.L218P	ZNF346_ENST00000503425.1_Missense_Mutation_p.L186P|ZNF346_ENST00000512315.1_Intron|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P|ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000503039.1_Missense_Mutation_p.L243P	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	218					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTCAAACTAATGGCACGC	0.552																																						ENST00000503039.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14						c.(727-729)cTa>cCa		zinc finger protein 346							100.0	90.0	93.0					5																	176477887		2203	4300	6503	SO:0001583	missense	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176477887T>C	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.653T>C	5.37:g.176477887T>C	ENSP00000350869:p.Leu218Pro					ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000358149.3_Missense_Mutation_p.L218P|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Missense_Mutation_p.L186P	p.L243P			Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	732	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	218					B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	c.728T>C	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282534	0.80692	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.99;0.994;0.982	T	0.60357	-0.7279	10	0.27082	T	0.32	.	15.0933	0.72215	0.0:0.0:0.0:1.0	.	120;186;243;218	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	P	218;120;186;243;234;243	ENSP00000350869:L218P;ENSP00000423515:L120P;ENSP00000421212:L186P;ENSP00000261948:L243P;ENSP00000425725:L234P;ENSP00000424495:L243P	ENSP00000261948:L243P	L	+	2	0	ZNF346	176410493	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.107000	0.77047	1.948000	0.56530	0.533000	0.62120	CTA		0.552	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		10	398	0	0	0	1	0	10	398				
DPP3	10072	broad.mit.edu	37	11	66255388	66255388	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66255388C>A	ENST00000360510.2	+	6	642	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000532677.1_Missense_Mutation_p.L212I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000531863.1_Missense_Mutation_p.L213I			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	193					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTAGAACCTCAGTGCCTA	0.562																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(634-636)Ctc>Atc		dipeptidyl-peptidase 3							79.0	76.0	77.0					11																	66255388		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66255388C>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.577C>A	11.37:g.66255388C>A	ENSP00000353701:p.Leu193Ile					DPP3_ENST00000531863.1_Missense_Mutation_p.L213I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000360510.2_Missense_Mutation_p.L193I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I	p.L212I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			6	1035	+			193					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.634C>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492621	0.12702	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	4.0	2.09	0.27110	.	0.123537	0.56097	D	0.000032	T	0.08447	0.0210	N	0.05554	-0.025	0.34439	D	0.699378	B;B	0.02656	0.0;0.0	B;B	0.12156	0.005;0.007	T	0.26985	-1.0087	10	0.13108	T	0.6	.	7.1169	0.25421	0.1692:0.7354:0.0:0.0954	.	212;193	G3V1D3;Q9NY33	.;DPP3_HUMAN	I	213;212;193;193;193;91;163;163;91;91;193	ENSP00000432782:L213I;ENSP00000435284:L212I;ENSP00000353701:L193I;ENSP00000389943:L193I;ENSP00000440502:L193I;ENSP00000437101:L91I;ENSP00000431606:L163I;ENSP00000436941:L163I;ENSP00000434518:L91I;ENSP00000432618:L193I	ENSP00000353701:L193I	L	+	1	0	DPP3	66011964	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.600000	0.36762	0.625000	0.30304	0.563000	0.77884	CTC		0.562	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			42	168	1	0	1.7489e-18	1	1.94175e-18	42	168				
CNOT4	4850	broad.mit.edu	37	7	135079029	135079029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135079029A>G	ENST00000315544.5	-	10	1547	c.1268T>C	c.(1267-1269)cTg>cCg	p.L423P	CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000428680.2_Missense_Mutation_p.L420P|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	423					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTGAACGGACAGTTCCTTCTC	0.488																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1258-1260)cTg>cCg		CCR4-NOT transcription complex, subunit 4							134.0	135.0	135.0					7																	135079029		1979	4154	6133	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135079029A>G	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1268T>C	7.37:g.135079029A>G	ENSP00000326731:p.Leu423Pro					CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P|CNOT4_ENST00000315544.5_Missense_Mutation_p.L423P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P	p.L420P	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			10	1538	-			423					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1259T>C	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.105960	0.77096	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.998;0.995;0.997;0.997;0.997	D;D;D;D;D;D	0.78314	0.942;0.974;0.979;0.991;0.991;0.991	T	0.58487	-0.7628	10	0.31617	T	0.26	-6.5092	15.5295	0.75942	1.0:0.0:0.0:0.0	.	420;423;423;420;423;420	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	P	423;420;423;423;420;420;423	ENSP00000445508:L423P;ENSP00000388491:L420P;ENSP00000406777:L423P;ENSP00000354673:L420P;ENSP00000399108:L420P;ENSP00000326731:L423P	ENSP00000262563:L423P	L	-	2	0	CNOT4	134729569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	CTG		0.488	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		81	393	0	0	0	1	0	81	393				
PSD4	23550	broad.mit.edu	37	2	113940351	113940351	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940351C>A	ENST00000245796.6	+	2	513	c.318C>A	c.(316-318)ccC>ccA	p.P106P	PSD4_ENST00000441564.3_Silent_p.P106P|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	106					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCTCCTCCCTGGGGCTCCG	0.637																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(316-318)ccC>ccA		pleckstrin and Sec7 domain containing 4							44.0	47.0	46.0					2																	113940351		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940351C>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.318C>A	2.37:g.113940351C>A						PSD4_ENST00000441564.2_Silent_p.P106P|PSD4_ENST00000465917.1_3'UTR	p.P106P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	513	+			106					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.318C>A	CCDS33276.1																																																																																				0.637	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		98	213	1	0	5.01286e-43	1	6.11331e-43	98	213				
INCENP	3619	broad.mit.edu	37	11	61908436	61908436	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61908436C>A	ENST00000394818.3	+	10	1715	c.1513C>A	c.(1513-1515)Ctc>Atc	p.L505I	INCENP_ENST00000278849.4_Missense_Mutation_p.L505I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	505					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACCAGATGCTCATGACCCC	0.632																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1513-1515)Ctc>Atc		inner centromere protein antigens 135/155kDa							79.0	78.0	78.0					11																	61908436		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61908436C>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1513C>A	11.37:g.61908436C>A	ENSP00000378295:p.Leu505Ile					INCENP_ENST00000278849.4_Missense_Mutation_p.L505I	p.L505I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			10	1715	+			505					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.1513C>A	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140644	0.77775	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.48836	0.8;0.8	5.46	5.46	0.80206	.	0.000000	0.47093	D	0.000253	T	0.68393	0.2996	M	0.71581	2.175	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.991	T	0.69312	-0.5178	10	0.52906	T	0.07	.	16.8154	0.85733	0.0:1.0:0.0:0.0	.	505;505;505	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	I	505	ENSP00000378295:L505I;ENSP00000278849:L505I	ENSP00000278849:L505I	L	+	1	0	INCENP	61665012	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.641000	0.74324	2.573000	0.86826	0.655000	0.94253	CTC		0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		10	354	1	0	2.17888e-05	1	2.22852e-05	10	354				
ZNF165	7718	broad.mit.edu	37	6	28053579	28053579	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28053579C>A	ENST00000377325.1	+	2	877	c.321C>A	c.(319-321)gcC>gcA	p.A107A		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	107	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTGCAGGCCTGGGTACATG	0.527																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(319-321)gcC>gcA		zinc finger protein 165							62.0	62.0	62.0					6																	28053579		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053579C>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.321C>A	6.37:g.28053579C>A							p.A107A	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			2	877	+			107			SCAN box.			Silent	SNP	ENST00000377325.1	37	c.321C>A	CCDS4643.1																																																																																				0.527	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		55	223	1	0	1.51943e-15	1	1.66198e-15	55	223				
TG	7038	broad.mit.edu	37	8	133980078	133980078	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133980078T>C	ENST00000220616.4	+	31	5766	c.5726T>C	c.(5725-5727)aTa>aCa	p.I1909T	TG_ENST00000377869.1_Missense_Mutation_p.I1852T|TG_ENST00000519543.1_Missense_Mutation_p.I63T|TG_ENST00000542445.1_Missense_Mutation_p.I279T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1909					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCGCAGAGATAACAGAGAGT	0.502																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5725-5727)aTa>aCa		thyroglobulin							84.0	67.0	73.0					8																	133980078		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133980078T>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5726T>C	8.37:g.133980078T>C	ENSP00000220616:p.Ile1909Thr					TG_ENST00000519543.1_Missense_Mutation_p.I63T|TG_ENST00000542445.1_Missense_Mutation_p.I279T|TG_ENST00000377869.1_Missense_Mutation_p.I1852T	p.I1909T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	31	5766	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1909					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5726T>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.346|8.346	0.829904|0.829904	0.16749|0.16749	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000518058	T;T;T;T|.	0.70749|.	-0.29;-0.3;-0.5;-0.51|.	5.77|5.77	4.55|4.55	0.56014|0.56014	.|.	0.806159|.	0.11516|.	N|.	0.556198|.	T|.	0.56001|.	0.1956|.	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;P;P|.	0.37276|.	0.363;0.589;0.514|.	B;B;B|.	0.33392|.	0.039;0.163;0.122|.	T|.	0.50250|.	-0.8850|.	10|.	0.87932|.	D|.	0|.	.|.	10.3|10.3	0.43646|0.43646	0.0:0.0:0.1644:0.8356|0.0:0.0:0.1644:0.8356	.|.	63;279;1909|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|Q	1852;715;1909;279;63|41	ENSP00000367100:I1852T;ENSP00000220616:I1909T;ENSP00000441693:I279T;ENSP00000430430:I63T|.	ENSP00000220616:I1909T|.	I|X	+|+	2|1	0|0	TG|TG	134049260|134049260	0.417000|0.417000	0.25432|0.25432	0.027000|0.027000	0.17364|0.17364	0.052000|0.052000	0.14988|0.14988	5.197000|5.197000	0.65141|0.65141	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATA|TAA		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		33	133	0	0	0	1	0	33	133				
DDX39A	10212	broad.mit.edu	37	19	14521030	14521030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14521030C>T	ENST00000242776.4	-	6	831	c.730G>A	c.(730-732)Gat>Aat	p.D244N	DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Missense_Mutation_p.D244N|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	244	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTACTCACATCCTGCATGAAC	0.637																																						ENST00000242776.4																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(730-732)Gat>Aat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A							145.0	98.0	114.0					19																	14521030		2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14521030C>T	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.730G>A	19.37:g.14521030C>T	ENSP00000242776:p.Asp244Asn					DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Missense_Mutation_p.D244N	p.D244N	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN			6	831	-			244			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.730G>A	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	c	13.91	2.376840	0.42105	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.41758	3.53;0.99;0.99	4.96	4.96	0.65561	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.04148	-0.265	0.80722	D	1	B;B	0.24186	0.099;0.002	B;B	0.29785	0.107;0.004	T	0.10683	-1.0619	10	0.13853	T	0.58	-31.4115	15.6956	0.77494	0.0:1.0:0.0:0.0	.	244;244	B1Q2N1;O00148	.;DX39A_HUMAN	N	287;244;244;244	ENSP00000242776:D244N;ENSP00000322749:D244N;ENSP00000392929:D244N	ENSP00000242776:D244N	D	-	1	0	DDX39A	14382030	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.812000	0.75226	2.300000	0.77407	0.556000	0.70494	GAT		0.637	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		77	327	0	0	0	1	0	77	327				
ATXN7	6314	broad.mit.edu	37	3	63973863	63973863	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63973863G>A	ENST00000295900.6	+	9	1774	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	ATXN7_ENST00000538065.1_Silent_p.P408P|ATXN7_ENST00000484332.1_Silent_p.P263P|ATXN7_ENST00000398590.3_Silent_p.P408P|ATXN7_ENST00000487717.1_Silent_p.P408P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	408	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGCAACCACCGCAGCCTCTCA	0.517																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1222-1224)ccG>ccA		ataxin 7							120.0	136.0	131.0					3																	63973863		1957	4150	6107	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63973863G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1224G>A	3.37:g.63973863G>A						ATXN7_ENST00000295900.6_Silent_p.P408P|ATXN7_ENST00000538065.1_Silent_p.P408P|ATXN7_ENST00000484332.1_Silent_p.P263P|ATXN7_ENST00000487717.1_Silent_p.P408P	p.P408P	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	9	1777	+		Prostate(884;0.0181)	408			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.1224G>A	CCDS43102.1																																																																																				0.517	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		23	1383	0	0	0	1	0	23	1383				
RBM39	9584	broad.mit.edu	37	20	34319920	34319920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34319920C>T	ENST00000253363.6	-	4	262	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q|RBM39_ENST00000361162.6_Missense_Mutation_p.R80Q			Q14498	RBM39_HUMAN	RNA binding motif protein 39	80	Arg/Ser-rich (RS domain).				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)			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)					GCGGCTCCGTCGCCTCTCTTT	0.433																																						ENST00000361162.6																			0				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.(238-240)cGa>cAa		RNA binding motif protein 39							184.0	174.0	177.0					20																	34319920		2203	4300	6503	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.chr20:34319920C>T	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.239G>A	20.37:g.34319920C>T	ENSP00000253363:p.Arg80Gln					RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R80Q	p.R80Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			4	623	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		80			Arg/Ser-rich (RS domain).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.239G>A	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.556659|4.556659	0.86231|0.86231	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000426951|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T	.|0.42900	.|3.45;3.45;1.0;3.48;3.48;0.96	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.099966	.|0.64402	.|D	.|0.000004	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.46327	.|0.804;0.804;0.876;0.804;0.804	.|B;B;B;B;B	.|0.39738	.|0.163;0.163;0.308;0.163;0.114	T|T	0.47560|0.47560	-0.9108|-0.9108	5|10	.|0.17832	.|T	.|0.49	.|.	20.2836|20.2836	0.98532|0.98532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;80;80;80;56	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	N|Q	68|80	.|ENSP00000253363:R80Q;ENSP00000354437:R80Q;ENSP00000436747:R80Q;ENSP00000363150:R80Q;ENSP00000406801:R80Q;ENSP00000393493:R80Q	.|ENSP00000253363:R80Q	D|R	-|-	1|2	0|0	RBM39|RBM39	33783334|33783334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	4.396000|4.396000	0.59684|0.59684	2.789000|2.789000	0.95967|0.95967	0.651000|0.651000	0.88453|0.88453	GAC|CGA		0.433	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		207	863	0	0	0	1	0	207	863				
ITPRIP	85450	broad.mit.edu	37	10	106075312	106075312	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075312G>T	ENST00000337478.1	-	2	669	c.498C>A	c.(496-498)ggC>ggA	p.G166G	ITPRIP_ENST00000358187.2_Silent_p.G166G|ITPRIP_ENST00000278071.2_Silent_p.G166G|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	166						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CATCCACGAAGCCTTCCAGGA	0.622																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(496-498)ggC>ggA		inositol 1,4,5-trisphosphate receptor interacting protein							52.0	56.0	55.0					10																	106075312		2202	4300	6502	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106075312G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.498C>A	10.37:g.106075312G>T						ITPRIP_ENST00000337478.1_Silent_p.G166G|ITPRIP_ENST00000358187.2_Silent_p.G166G	p.G166G	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	950	-			166					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.498C>A	CCDS7557.1																																																																																				0.622	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		75	387	1	0	8.27458e-37	1	9.91862e-37	75	387				
EPAS1	2034	broad.mit.edu	37	2	46608739	46608739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46608739G>A	ENST00000263734.3	+	13	2560	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	684					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCAGGTCTGCAAAGGGTTT	0.582																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2050-2052)Gca>Aca		endothelial PAS domain protein 1							48.0	49.0	49.0					2																	46608739		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46608739G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2050G>A	2.37:g.46608739G>A	ENSP00000263734:p.Ala684Thr						p.A684T	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		13	2560	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	684					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.2050G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396695	0.25205	.	.	ENSG00000116016	ENST00000263734	T	0.47869	0.83	5.19	4.31	0.51392	.	1.793810	0.02489	N	0.089240	T	0.27832	0.0685	N	0.08118	0	0.09310	N	0.999996	B	0.26258	0.145	B	0.21546	0.035	T	0.28933	-1.0028	10	0.22706	T	0.39	.	3.7445	0.08542	0.09:0.1778:0.5723:0.1599	.	684	Q99814	EPAS1_HUMAN	T	684	ENSP00000263734:A684T	ENSP00000263734:A684T	A	+	1	0	EPAS1	46462243	0.988000	0.35896	1.000000	0.80357	0.889000	0.51656	0.675000	0.25232	2.416000	0.81992	0.563000	0.77884	GCA		0.582	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		83	246	0	0	0	1	0	83	246				
FAM83G	644815	broad.mit.edu	37	17	18881119	18881119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881119G>A	ENST00000388995.6	-	5	2083	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.F620F|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	620					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCTCACCTCGAAGTACTCCT	0.667																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1858-1860)ttC>ttT		family with sequence similarity 83, member G							31.0	37.0	36.0					17																	18881119		2017	4177	6194	SO:0001819	synonymous_variant	644815							g.chr17:18881119G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1860C>T	17.37:g.18881119G>A						FAM83G_ENST00000345041.4_Silent_p.F620F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.F620F			A6ND36	FA83G_HUMAN			5	2083	-			620					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.1860C>T	CCDS42276.1																																																																																				0.667	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			57	267	0	0	0	1	0	57	267				
ZNF646	9726	broad.mit.edu	37	16	31087864	31087864	+	Silent	SNP	C	C	T	rs544717319		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31087864C>T	ENST00000394979.2	+	1	642	c.219C>T	c.(217-219)ggC>ggT	p.G73G	ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Silent_p.G73G			O15015	ZN646_HUMAN	zinc finger protein 646	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACGAGACTGGCCTTTTCCCCT	0.627																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(217-219)ggC>ggT		zinc finger protein 646							101.0	61.0	75.0					16																	31087864		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087864C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.219C>T	16.37:g.31087864C>T						ZNF646_ENST00000300850.5_Silent_p.G73G	p.G73G			O15015	ZN646_HUMAN			1	642	+			73					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.219C>T																																																																																					0.627	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		71	276	0	0	0	1	0	71	276				
TRIM51	84767	broad.mit.edu	37	11	55658916	55658916	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55658916C>T	ENST00000449290.2	+	7	1259	c.1167C>T	c.(1165-1167)tgC>tgT	p.C389C	TRIM51_ENST00000244891.3_Silent_p.C246C	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ACACTCACTGCAGTCTCTTTA	0.448																																						ENST00000449290.2																			0											c.(1165-1167)tgC>tgT		tripartite motif-containing 51							31.0	31.0	31.0					11																	55658916		2123	4088	6211	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55658916C>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1167C>T	11.37:g.55658916C>T						TRIM51_ENST00000244891.3_Silent_p.C246C	p.C389C	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1259	+			389			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1167C>T																																																																																					0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		63	307	0	0	0	1	0	63	307				
GSTA4	2941	broad.mit.edu	37	6	52847504	52847504	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52847504C>T	ENST00000370959.1	-	6	532		c.e6-1		GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000541324.1_Splice_Site			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408																																						ENST00000541324.1																			0				endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7						c.e4-1		glutathione S-transferase alpha 4	Glutathione(DB00143)						96.0	87.0	90.0					6																	52847504		2203	4300	6503	SO:0001630	splice_region_variant	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52847504C>T	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.415-1G>A	6.37:g.52847504C>T						GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000370959.1_Splice_Site				O15217	GSTA4_HUMAN			4	401	-	Lung NSC(77;0.103)							B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Splice_Site	SNP	ENST00000370959.1	37		CCDS4948.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878857	0.33162	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSTA4	52955463	1.000000	0.71417	0.989000	0.46669	0.113000	0.19764	5.009000	0.63998	2.906000	0.99361	0.655000	0.94253	.		0.408	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512	Intron	29	344	0	0	0	1	0	29	344				
FASTKD3	79072	broad.mit.edu	37	5	7867281	7867281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867281G>T	ENST00000264669.5	-	2	1052	c.916C>A	c.(916-918)Ctt>Att	p.L306I	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	306					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTGATCAAGAACCACCAGG	0.388																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(916-918)Ctt>Att		FAST kinase domains 3							86.0	97.0	93.0					5																	7867281		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867281G>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.916C>A	5.37:g.7867281G>T	ENSP00000264669:p.Leu306Ile					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.L306I	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	1052	-			306					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.916C>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548702	0.65311	.	.	ENSG00000124279	ENST00000264669	T	0.16897	2.31	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.35895	-0.9770	10	0.42905	T	0.14	-24.8401	18.1841	0.89788	0.0:0.0:1.0:0.0	.	306	Q14CZ7	FAKD3_HUMAN	I	306	ENSP00000264669:L306I	ENSP00000264669:L306I	L	-	1	0	FASTKD3	7920281	1.000000	0.71417	0.169000	0.22859	0.634000	0.38068	7.015000	0.76387	2.506000	0.84524	0.655000	0.94253	CTT		0.388	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		103	455	1	0	1.14904e-54	1	1.4347e-54	103	455				
GSN	2934	broad.mit.edu	37	9	124091191	124091191	+	Silent	SNP	C	C	T	rs145066574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124091191C>T	ENST00000373818.4	+	14	2007	c.1938C>T	c.(1936-1938)ggC>ggT	p.G646G	GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000412819.1_Silent_p.G595G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000373823.3_Silent_p.G595G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000545652.1_Silent_p.G603G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	646	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGCCCTGGGCGGGAAGGCTG	0.622																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(1783-1785)ggC>ggT		gelsolin		C	,,,,,,,	0,4406		0,0,2203	63.0	58.0	60.0		1938,1785,1785,1785,1785,1818,1818,1785	-0.3	1.0	9	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,	646/783,595/732,595/732,595/732,595/732,606/743,606/743,595/732	124091191	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124091191C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1938C>T	9.37:g.124091191C>T						GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000373818.4_Silent_p.G646G|GSN_ENST00000412819.1_Silent_p.G595G|GSN_ENST00000545652.1_Silent_p.G603G	p.G595G			P06396	GELS_HUMAN			22	2690	+			646			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	c.1785C>T	CCDS6828.1																																																																																				0.622	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		14	232	0	0	0	1	0	14	232				
IL1B	3553	broad.mit.edu	37	2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113588108G>A	ENST00000263341.2	-	7	850	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	214					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AAGACAAATCGCTTTTCCATC	0.423																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(640-642)Cga>Tga		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						191.0	185.0	187.0					2																	113588108		2203	4300	6503	SO:0001587	stop_gained	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113588108G>A	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.640C>T	2.37:g.113588108G>A	ENSP00000263341:p.Arg214*					IL1B_ENST00000491056.1_5'UTR	p.R214*	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			7	850	-			214					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Nonsense_Mutation	SNP	ENST00000263341.2	37	c.640C>T	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234989	0.97399	.	.	ENSG00000125538	ENST00000263341	.	.	.	5.39	4.5	0.54988	.	0.059451	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9562	11.2899	0.49244	0.0:0.0:0.8182:0.1818	.	.	.	.	X	214	.	ENSP00000263341:R214X	R	-	1	2	IL1B	113304579	0.863000	0.29885	0.944000	0.38274	0.999000	0.98932	0.985000	0.29578	1.492000	0.48499	0.650000	0.86243	CGA		0.423	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		87	614	0	0	0	1	0	87	614				
SLC35A4	113829	broad.mit.edu	37	5	139947326	139947326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947326T>C	ENST00000514199.1	+	2	2258	c.572T>C	c.(571-573)cTc>cCc	p.L191P	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	191	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGCTGCTCCTCATTCTG	0.612																																						ENST00000514199.1																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(571-573)cTc>cCc		solute carrier family 35, member A4							99.0	94.0	95.0					5																	139947326		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947326T>C	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.572T>C	5.37:g.139947326T>C	ENSP00000424566:p.Leu191Pro					APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P	p.L191P			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2258	+			191			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.572T>C	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493211	0.26774	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.48201	0.82;0.82	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000004	T	0.66426	0.2788	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68135	-0.5489	9	.	.	.	-9.4098	13.9451	0.64080	0.0:0.0:0.0:1.0	.	191	Q96G79	S35A4_HUMAN	P	191	ENSP00000327133:L191P;ENSP00000424566:L191P	.	L	+	2	0	SLC35A4	139927510	1.000000	0.71417	0.962000	0.40283	0.427000	0.31564	7.487000	0.81328	1.961000	0.56991	0.379000	0.24179	CTC		0.612	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		129	514	0	0	0	1	0	129	514				
BEND7	222389	broad.mit.edu	37	10	13542030	13542030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13542030G>T	ENST00000396900.2	-	3	195	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	BEND7_ENST00000378605.3_Missense_Mutation_p.L14M|BEND7_ENST00000341083.3_Missense_Mutation_p.L14M|BEND7_ENST00000396898.2_Missense_Mutation_p.L66M			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	66						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGTCGTTCAGCAATCTTCTC	0.433																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(40-42)Ctg>Atg		BEN domain containing 7							139.0	141.0	140.0					10																	13542030		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13542030G>T	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.196C>A	10.37:g.13542030G>T	ENSP00000380108:p.Leu66Met					BEND7_ENST00000378605.3_Missense_Mutation_p.L14M|BEND7_ENST00000396900.2_Missense_Mutation_p.L66M|BEND7_ENST00000396898.2_Missense_Mutation_p.L66M	p.L14M	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			3	336	-			66					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.40C>A		.	.	.	.	.	.	.	.	.	.	G	18.34	3.602344	0.66445	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.65916	-0.18;-0.15;-0.09;-0.08	5.63	0.597	0.17504	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.63843	1.955	0.37854	D	0.929479	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.73972	-0.3814	10	0.87932	D	0	-11.9329	10.2521	0.43375	0.3253:0.0:0.6747:0.0	.	66;14	E5RFC0;Q8N7W2-3	.;.	M	66;14;66;14	ENSP00000380108:L66M;ENSP00000345773:L14M;ENSP00000380107:L66M;ENSP00000367868:L14M	ENSP00000345773:L14M	L	-	1	2	BEND7	13582036	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.854000	0.48325	0.084000	0.17077	0.650000	0.86243	CTG		0.433	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		167	758	1	0	2.0813e-75	1	2.65401e-75	167	758				
RAD9A	5883	broad.mit.edu	37	11	67163803	67163803	+	Silent	SNP	C	C	T	rs141857815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67163803C>T	ENST00000307980.2	+	9	897	c.804C>T	c.(802-804)acC>acT	p.T268T	PPP1CA_ENST00000532446.1_5'Flank|RNU6-1238P_ENST00000517215.1_RNA|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	268	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTCAGACACCGACTCGCACT	0.642								Other conserved DNA damage response genes																														ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(802-804)acC>acT	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)				1,4399	2.1+/-5.4	0,1,2199	123.0	117.0	119.0		804	-9.3	0.0	11	dbSNP_134	119	0,8590		0,0,4295	no	coding-synonymous	RAD9A	NM_004584.2		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		268/392	67163803	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67163803C>T	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.804C>T	11.37:g.67163803C>T						RAD9A_ENST00000535644.1_3'UTR	p.T268T	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		9	897	+			268			Sufficient for interaction with ABL1.		B2RCZ8|Q6FI29|Q96C41	Silent	SNP	ENST00000307980.2	37	c.804C>T	CCDS8159.1																																																																																				0.642	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		142	661	0	0	0	1	0	142	661				
APOB	338	broad.mit.edu	37	2	21226159	21226159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21226159G>A	ENST00000233242.1	-	29	12262	c.12135C>T	c.(12133-12135)gtC>gtT	p.V4045V	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4045					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGATTCCCGGACCCTCAACT	0.403																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12133-12135)gtC>gtT		apolipoprotein B	Atorvastatin(DB01076)						207.0	233.0	224.0					2																	21226159		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226159G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12135C>T	2.37:g.21226159G>A							p.V4045V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	12262	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4045					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12135C>T	CCDS1703.1																																																																																				0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			273	1540	0	0	0	1	0	273	1540				
MAP3K12	7786	broad.mit.edu	37	12	53879181	53879181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53879181C>A	ENST00000267079.2	-	6	1026	c.801G>T	c.(799-801)aaG>aaT	p.K267N	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAAAGGACATCTTGGTGCTCT	0.502																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(799-801)aaG>aaT		mitogen-activated protein kinase kinase kinase 12							217.0	207.0	211.0					12																	53879181		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53879181C>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.801G>T	12.37:g.53879181C>A	ENSP00000267079:p.Lys267Asn					MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300N	p.K267N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			6	1026	-			267			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.801G>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595786	0.66332	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.83673	-1.75;-1.75;-1.75	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000284	T	0.81777	0.4894	L	0.28458	0.855	0.80722	D	1	B;B	0.32968	0.34;0.392	B;B	0.44224	0.316;0.444	T	0.82422	-0.0465	10	0.59425	D	0.04	.	17.24	0.87010	0.0:1.0:0.0:0.0	.	300;267	G3V1Y2;Q12852	.;M3K12_HUMAN	N	267;300;300	ENSP00000267079:K267N;ENSP00000449038:K300N;ENSP00000448689:K300N	ENSP00000267079:K267N	K	-	3	2	MAP3K12	52165448	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.669000	0.25142	2.688000	0.91661	0.561000	0.74099	AAG		0.502	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		38	1169	1	0	1.26612e-14	1	1.37737e-14	38	1169				
DGKB	1607	broad.mit.edu	37	7	14880885	14880885	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14880885T>G	ENST00000403951.2	-	2	423	c.4A>C	c.(4-6)Aca>Cca	p.T2P	DGKB_ENST00000399322.3_Missense_Mutation_p.T2P|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P|DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	2					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TCCTGGTTTGTCATGGTGGTG	0.408																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4-6)Aca>Cca		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						84.0	83.0	83.0					7																	14880885		1883	4103	5986	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14880885T>G	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.4A>C	7.37:g.14880885T>G	ENSP00000385780:p.Thr2Pro					DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000399322.3_Missense_Mutation_p.T2P	p.T2P			Q9Y6T7	DGKB_HUMAN			2	423	-			2					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.4A>C	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210761	0.58343	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T	0.79940	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.32	5.43	5.43	0.79202	.	0.123212	0.53938	D	0.000053	T	0.72463	0.3463	N	0.22421	0.69	0.36102	D	0.844197	P;B;P;P	0.51537	0.91;0.118;0.946;0.91	B;B;B;B	0.43680	0.245;0.095;0.427;0.245	T	0.81521	-0.0895	10	0.72032	D	0.01	.	14.5048	0.67746	0.0:0.0:0.0:1.0	.	2;2;2;2	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	P	2	ENSP00000385780:T2P;ENSP00000382260:T2P;ENSP00000258767:T2P;ENSP00000384909:T2P;ENSP00000385031:T2P;ENSP00000388451:T2P;ENSP00000386066:T2P	ENSP00000258767:T2P	T	-	1	0	DGKB	14847410	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.211000	0.65219	2.078000	0.62432	0.381000	0.24937	ACA		0.408	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		21	100	0	0	0	1	0	21	100				
VCX3B	425054	broad.mit.edu	37	X	8433520	8433520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8433520C>A	ENST00000381032.1	+	2	336	c.29C>A	c.(28-30)cCt>cAt	p.P10H	VCX3B_ENST00000453306.1_Missense_Mutation_p.P10H|VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000444481.1_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_Missense_Mutation_p.P10H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	10						nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GCCTCGGGACCTCCGGCCAAG	0.607																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(28-30)cCt>cAt		variable charge, X-linked 3B							74.0	46.0	56.0					X																	8433520		1381	2319	3700	SO:0001583	missense	0					nucleolus		g.chrX:8433520C>A		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.29C>A	X.37:g.8433520C>A	ENSP00000370420:p.Pro10His					VCX3B_ENST00000453306.1_Missense_Mutation_p.P10H|VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_Missense_Mutation_p.P10H|VCX3B_ENST00000444481.1_Missense_Mutation_p.P10H	p.P10H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			2	336	+			10					C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	c.29C>A	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	C	4.447	0.082777	0.08533	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	0.421	-0.563	0.11778	.	.	.	.	.	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	D;D	0.53462	0.96;0.96	B;B	0.41299	0.353;0.353	T	0.14392	-1.0474	8	0.72032	D	0.01	.	.	.	.	.	10;10	Q9H321;E7ERZ8	VCX3B_HUMAN;.	H	10	ENSP00000370420:P10H;ENSP00000411785:P10H;ENSP00000414780:P10H;ENSP00000410372:P10H;ENSP00000370417:P10H	ENSP00000370417:P10H	P	+	2	0	VCX3B	8393520	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.021000	0.30040	-0.438000	0.07232	-0.435000	0.05868	CCT		0.607	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			22	974	1	0	1.78486e-19	1	1.99151e-19	22	974				
SH3TC1	54436	broad.mit.edu	37	4	8229864	8229864	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229864G>T	ENST00000245105.3	+	12	2510	c.2443G>T	c.(2443-2445)Gcc>Tcc	p.A815S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A739S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	815										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCAGTGGAAGCCAGTGCTAT	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2215-2217)Gcc>Tcc		SH3 domain and tetratricopeptide repeats 1							46.0	42.0	43.0					4																	8229864		2202	4297	6499	SO:0001583	missense	54436						binding	g.chr4:8229864G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2443G>T	4.37:g.8229864G>T	ENSP00000245105:p.Ala815Ser					SH3TC1_ENST00000245105.3_Missense_Mutation_p.A815S	p.A739S			Q8TE82	S3TC1_HUMAN			12	2589	+			815					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2215G>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273038	0.01421	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.72835	-0.69;-0.69	4.32	1.39	0.22231	Tetratricopeptide-like helical (1);	0.563940	0.18719	N	0.133078	T	0.48804	0.1520	L	0.35414	1.06	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15549	-1.0433	10	0.19147	T	0.46	-6.7967	0.7923	0.01059	0.1778:0.2438:0.2871:0.2913	.	815	Q8TE82	S3TC1_HUMAN	S	553;815;739;644	ENSP00000245105:A815S;ENSP00000441045:A739S	ENSP00000245105:A815S	A	+	1	0	SH3TC1	8280764	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.279000	0.08479	0.278000	0.22164	-0.475000	0.04921	GCC		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		39	154	1	0	1.30998e-17	1	1.44773e-17	39	154				
UPK1A	11045	broad.mit.edu	37	19	36166803	36166803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36166803C>T	ENST00000222275.2	+	5	530	c.530C>T	c.(529-531)gCg>gTg	p.A177V	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.A177V	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	177					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTCCGGGCGGCCACTCCG	0.642																																						ENST00000222275.2																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(529-531)gCg>gTg		uroplakin 1A							66.0	60.0	62.0					19																	36166803		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36166803C>T	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.530C>T	19.37:g.36166803C>T	ENSP00000222275:p.Ala177Val					UPK1A_ENST00000379013.2_Missense_Mutation_p.A177V	p.A177V	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	530	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		177					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.530C>T	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	C	6.033	0.374512	0.11409	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.79247	-1.25;-1.25	4.98	-0.367	0.12541	Tetraspanin, EC2 domain (1);	0.584934	0.15940	N	0.237240	T	0.53029	0.1771	N	0.08118	0	0.09310	N	1	P;P	0.38280	0.625;0.618	B;B	0.28465	0.088;0.09	T	0.36383	-0.9750	10	0.23302	T	0.38	-6.5041	15.524	0.75887	0.4122:0.5877:0.0:0.0	.	177;177	O00322-2;O00322	.;UPK1A_HUMAN	V	177	ENSP00000222275:A177V;ENSP00000368298:A177V	ENSP00000222275:A177V	A	+	2	0	UPK1A	40858643	0.000000	0.05858	0.077000	0.20336	0.294000	0.27393	-0.378000	0.07446	-0.101000	0.12219	-1.624000	0.00789	GCG		0.642	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			25	247	0	0	0	1	0	25	247				
WIPF2	147179	broad.mit.edu	37	17	38412732	38412732	+	Silent	SNP	G	G	A	rs573803169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38412732G>A	ENST00000323571.4	+	2	261	c.21G>A	c.(19-21)ccG>ccA	p.P7P	WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000585043.1_Silent_p.P7P|WIPF2_ENST00000394103.3_Silent_p.P7P|WIPF2_ENST00000583130.1_Silent_p.P7P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	7	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTCCTCCCCCGCCACCCCCAC	0.488										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(19-21)ccG>ccA		WAS/WASL interacting protein family, member 2							108.0	98.0	101.0					17																	38412732		2203	4300	6503	SO:0001819	synonymous_variant	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38412732G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.21G>A	17.37:g.38412732G>A		HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000585043.1_Silent_p.P7P|WIPF2_ENST00000394103.3_Silent_p.P7P|WIPF2_ENST00000583130.1_Silent_p.P7P	p.P7P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			2	261	+			7			Poly-Pro.		A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	c.21G>A	CCDS11364.1																																																																																				0.488	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		67	339	0	0	0	1	0	67	339				
DOCK4	9732	broad.mit.edu	37	7	111422941	111422941	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111422941A>G	ENST00000437633.1	-	34	3793	c.3537T>C	c.(3535-3537)atT>atC	p.I1179I	DOCK4_ENST00000494651.2_Silent_p.I62I|DOCK4_ENST00000428084.1_Silent_p.I1188I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1179					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGTGCAGCCAATCTTTTTGC	0.383																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(3562-3564)atT>atC		dedicator of cytokinesis 4							182.0	176.0	178.0					7																	111422941		1844	4085	5929	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111422941A>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3537T>C	7.37:g.111422941A>G						DOCK4_ENST00000437633.1_Silent_p.I1179I|DOCK4_ENST00000494651.2_Silent_p.I62I	p.I1188I			Q8N1I0	DOCK4_HUMAN			35	3836	-		Acute lymphoblastic leukemia(1;0.0441)	1179			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.3564T>C	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315908	0.23908	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.42	2.95	0.34219	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51710	-0.8671	4	.	.	.	.	9.209	0.37306	0.8401:0.0:0.1599:0.0	.	.	.	.	S	640;1212	.	.	L	-	2	0	DOCK4	111210177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.018000	0.40991	0.401000	0.25424	0.455000	0.32223	TTG		0.383	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		79	461	0	0	0	1	0	79	461				
SLC5A8	160728	broad.mit.edu	37	12	101584320	101584320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101584320C>T	ENST00000536262.2	-	6	1317	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATGCTGGTCCATGTGAAGG	0.393																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(757-759)tgG>tgA		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							143.0	138.0	139.0					12																	101584320		2203	4300	6503	SO:0001587	stop_gained	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101584320C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.759G>A	12.37:g.101584320C>T	ENSP00000445340:p.Trp253*						p.W253*	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			6	1317	-			253						Nonsense_Mutation	SNP	ENST00000536262.2	37	c.759G>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	41	8.821964	0.98966	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3842	0.74684	0.0:0.932:0.0:0.068	.	.	.	.	X	253	.	ENSP00000445340:W253X	W	-	3	0	SLC5A8	100108451	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.754000	0.68743	2.774000	0.95407	0.585000	0.79938	TGG		0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		109	432	0	0	0	1	0	109	432				
VEPH1	79674	broad.mit.edu	37	3	157099043	157099043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157099043G>A	ENST00000362010.2	-	7	1336	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Silent_p.G343G|VEPH1_ENST00000392833.2_Silent_p.G343G|VEPH1_ENST00000543418.1_Silent_p.G343G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	343						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTCTGAGGGCCCAAGATTG	0.507																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1027-1029)ggC>ggT		ventricular zone expressed PH domain-containing 1							185.0	177.0	179.0					3																	157099043		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157099043G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1029C>T	3.37:g.157099043G>A						VEPH1_ENST00000543418.1_Silent_p.G343G|VEPH1_ENST00000392832.2_Silent_p.G343G|VEPH1_ENST00000392833.2_Silent_p.G343G|RP11-550I24.2_ENST00000487238.1_RNA	p.G343G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		7	1336	-			343					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.1029C>T	CCDS3179.1																																																																																				0.507	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		121	501	0	0	0	1	0	121	501				
TTN	7273	broad.mit.edu	37	2	179472319	179472319	+	Missense_Mutation	SNP	C	C	T	rs72646808	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179472319C>T	ENST00000591111.1	-	227	48397	c.48173G>A	c.(48172-48174)cGc>cAc	p.R16058H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759H|TTN_ENST00000460472.2_Missense_Mutation_p.R8634H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8826H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R17699H|TTN_ENST00000342992.6_Missense_Mutation_p.R15131H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16058	Ig-like 99.		R -> H. {ECO:0000269|PubMed:17344846}.		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)	p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1)		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)			AGGTACAGGGCGACCAGTCAC	0.448													C|||	6	0.00119808	0.0008	0.0014	5008	,	,		16817	0.0		0.003	False		,,,				2504	0.001					ENST00000589042.1																			5	Substitution - Missense(5)	p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1)	lung(5)	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.(53095-53097)cGc>cAc		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3750		0,2,1874	281.0	266.0	271.0		25901,45392,26276,26477	6.0	1.0	2	dbSNP_130	271	25,8189		0,25,4082	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,27,5956	TT,TC,CC		0.3044,0.0533,0.2256	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8634/26927,15131/33424,8759/27052,8826/27119	179472319	27,11939	1876	4107	5983	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472319C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48173G>A	2.37:g.179472319C>T	ENSP00000465570:p.Arg16058His					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15131H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8634H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8826H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16058H	p.R17699H	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)		277	53320	-			16058			Fibronectin type-III 28.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.53096G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	12.60	1.987804	0.35036	5.33E-4	0.003044	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77054	0.4074	L	0.35723	1.085	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.971;0.971;0.971;0.984	T	0.77621	-0.2519	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8634;8759;8826;16058	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15131;8634;8826;8759;8634	ENSP00000343764:R15131H;ENSP00000434586:R8634H;ENSP00000340554:R8826H;ENSP00000352154:R8759H	ENSP00000340554:R8826H	R	-	2	0	TTN	179180564	1.000000	0.71417	0.970000	0.41538	0.837000	0.47467	4.428000	0.59894	2.840000	0.97914	0.655000	0.94253	CGC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		398	1200	0	0	0	1	0	398	1200				
EPS8L1	54869	broad.mit.edu	37	19	55591075	55591075	+	Nonsense_Mutation	SNP	C	C	A	rs551816363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55591075C>A	ENST00000201647.6	+	5	191	c.135C>A	c.(133-135)tgC>tgA	p.C45*	EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*|EPS8L1_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_5'Flank	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	45					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACGTTCTGCCTGGGTGAGG	0.587																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(133-135)tgC>tgA		EPS8-like 1							97.0	76.0	83.0					19																	55591075		2203	4300	6503	SO:0001587	stop_gained	54869					cytoplasm		g.chr19:55591075C>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.135C>A	19.37:g.55591075C>A	ENSP00000201647:p.Cys45*					EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*	p.C45*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	5	191	+			45					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Nonsense_Mutation	SNP	ENST00000201647.6	37	c.135C>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749039	0.96882	.	.	ENSG00000131037	ENST00000310075;ENST00000201647	.	.	.	3.85	2.8	0.32819	.	0.439105	0.21813	N	0.068738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-22.1609	5.0513	0.14511	0.2046:0.6818:0.0:0.1136	.	.	.	.	X	27;45	.	ENSP00000201647:C45X	C	+	3	2	EPS8L1	60282887	0.159000	0.22864	0.999000	0.59377	0.838000	0.47535	0.283000	0.18846	0.732000	0.32470	0.313000	0.20887	TGC		0.587	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		33	172	1	0	1.62565e-12	1	1.74646e-12	33	172				
KIT	3815	broad.mit.edu	37	4	55575592	55575592	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55575592A>G	ENST00000288135.5	+	7	1215	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	373	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTGTAGATACGTAAGTGAA	0.413		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1117-1119)tAc>tGc		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						82.0	75.0	77.0					4																	55575592		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55575592A>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1118A>G	4.37:g.55575592A>G	ENSP00000288135:p.Tyr373Cys						p.Y373C	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	7	1215	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		373			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1118A>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.435646	0.43224	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.55234	0.53;0.53	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	T	0.78298	0.4261	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.83359	0.0001	10	0.87932	D	0	.	15.1434	0.72630	1.0:0.0:0.0:0.0	.	373;373	P10721-2;P10721	.;KIT_HUMAN	C	373	ENSP00000288135:Y373C;ENSP00000390987:Y373C	ENSP00000288135:Y373C	Y	+	2	0	KIT	55270349	1.000000	0.71417	0.924000	0.36721	0.018000	0.09664	5.736000	0.68597	2.313000	0.78055	0.455000	0.32223	TAC		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			6	253	0	0	0	1	0	6	253				
VAV1	7409	broad.mit.edu	37	19	6828892	6828892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828892C>T	ENST00000602142.1	+	13	1328	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	VAV1_ENST00000596764.1_Missense_Mutation_p.R384W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W|VAV1_ENST00000304076.2_Missense_Mutation_p.R416W|VAV1_ENST00000599806.1_Missense_Mutation_p.R361W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	416	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTCGGTGGAACGGCGCTCCAA	0.612																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1246-1248)Cgg>Tgg		vav 1 guanine nucleotide exchange factor							57.0	46.0	50.0					19																	6828892		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828892C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1246C>T	19.37:g.6828892C>T	ENSP00000472929:p.Arg416Trp					VAV1_ENST00000602142.1_Missense_Mutation_p.R416W|VAV1_ENST00000596764.1_Missense_Mutation_p.R384W|VAV1_ENST00000599806.1_Missense_Mutation_p.R361W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W	p.R416W	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			13	1340	+			416			PH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1246C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651623	0.67472	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.88586	-2.4;-2.4	5.25	-4.27	0.03744	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.188612	0.43110	D	0.000606	D	0.89178	0.6641	L	0.36672	1.1	0.37942	D	0.932369	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.68765	0.831;0.922;0.941;0.96	D	0.87035	0.2137	10	0.38643	T	0.18	.	16.8943	0.86096	0.8235:0.1765:0.0:0.0	.	319;416;361;416	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	416;319	ENSP00000302269:R416W;ENSP00000443242:R319W	ENSP00000302269:R416W	R	+	1	2	VAV1	6779892	0.969000	0.33509	0.411000	0.26484	0.687000	0.40016	0.569000	0.23638	-0.333000	0.08476	-0.238000	0.12139	CGG		0.612	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			38	217	0	0	0	1	0	38	217				
CASKIN2	57513	broad.mit.edu	37	17	73497582	73497582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73497582G>A	ENST00000321617.3	-	19	4071	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm (GO:0005737)		p.L1159_A1162del(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCTTCTCTGCGGCTCTCAG	0.657																																						ENST00000321617.3																			1	Deletion - In frame(1)	p.L1159_A1162del(1)	pancreas(1)	endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3484-3486)gCa>gTa		CASK interacting protein 2							69.0	79.0	75.0					17																	73497582		2194	4263	6457	SO:0001583	missense	57513					cytoplasm		g.chr17:73497582G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3485C>T	17.37:g.73497582G>A	ENSP00000325355:p.Ala1162Val					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	p.A1162V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	4071	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1162					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3485C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645679	0.47258	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.52983	0.64;0.79	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000293	T	0.28267	0.0698	N	0.13043	0.29	0.80722	D	1	B	0.27765	0.188	B	0.29267	0.1	T	0.10894	-1.0610	10	0.06365	T	0.9	.	12.9176	0.58214	0.0741:0.0:0.9259:0.0	.	1162	Q8WXE0	CSKI2_HUMAN	V	1162;1080	ENSP00000325355:A1162V;ENSP00000406963:A1080V	ENSP00000325355:A1162V	A	-	2	0	CASKIN2	71009177	1.000000	0.71417	0.825000	0.32803	0.914000	0.54420	5.221000	0.65272	2.641000	0.89580	0.591000	0.81541	GCA		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		175	733	0	0	0	1	0	175	733				
ZNF107	51427	broad.mit.edu	37	7	64168445	64168445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64168445C>A	ENST00000395391.1	+	4	3138	c.1763C>A	c.(1762-1764)gCt>gAt	p.A588D	ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D|ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATGGAAAAGCTTTTAACCTA	0.338																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1762-1764)gCt>gAt		zinc finger protein 107							45.0	52.0	49.0					7																	64168445		2201	4296	6497	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168445C>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1763C>A	7.37:g.64168445C>A	ENSP00000378789:p.Ala588Asp					ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D|ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D	p.A588D			Q9UII5	ZN107_HUMAN			4	3138	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	588						Missense_Mutation	SNP	ENST00000395391.1	37	c.1763C>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575081	0.45902	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.17213	2.29;2.29;2.29	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.46741	1.465	0.21822	N	0.999529	D	0.69078	0.997	D	0.75020	0.985	T	0.07462	-1.0771	8	.	.	.	.	5.2825	0.15682	0.0:0.6307:0.3693:0.0	.	588	Q9UII5	ZN107_HUMAN	D	588	ENSP00000343443:A588D;ENSP00000400037:A588D;ENSP00000378789:A588D	.	A	+	2	0	ZNF107	63805880	0.000000	0.05858	0.216000	0.23742	0.459000	0.32528	0.444000	0.21661	0.635000	0.30488	0.313000	0.20887	GCT		0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		56	286	1	0	1.0442e-30	1	1.22599e-30	56	286				
SSUH2	51066	broad.mit.edu	37	3	8672596	8672596	+	Silent	SNP	C	C	T	rs367672915	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8672596C>T	ENST00000317371.4	-	13	1579	c.354G>A	c.(352-354)ccG>ccA	p.P118P	SSUH2_ENST00000341795.3_Silent_p.P118P|SSUH2_ENST00000544814.1_Silent_p.P140P|SSUH2_ENST00000415132.1_Silent_p.P118P			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	118						cytoplasm (GO:0005737)											CGCCTCTTTGCGGCCCATCCA	0.532													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18439	0.0		0.001	False		,,,				2504	0.0					ENST00000317371.4																			0											c.(352-354)ccG>ccA		ssu-2 homolog (C. elegans)		C		2,4404	4.2+/-10.8	0,2,2201	72.0	69.0	70.0		354	-7.3	0.1	3		70	0,8600		0,0,4300	no	coding-synonymous	C3orf32	NM_015931.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		118/354	8672596	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51066							g.chr3:8672596C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.354G>A	3.37:g.8672596C>T						SSUH2_ENST00000341795.3_Silent_p.P118P|SSUH2_ENST00000544814.1_Silent_p.P140P|SSUH2_ENST00000415132.1_Silent_p.P118P	p.P118P							13	1579	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Silent	SNP	ENST00000317371.4	37	c.354G>A	CCDS2568.1																																																																																				0.532	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		39	234	0	0	0	1	0	39	234				
IL21	59067	broad.mit.edu	37	4	123542063	123542063	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123542063T>C	ENST00000264497.3	-	1	161	c.104A>G	c.(103-105)cAc>cGc	p.H35R	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	28					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAATCATGTGGCGATCTTG	0.398																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(103-105)cAc>cGc		interleukin 21							137.0	131.0	133.0					4																	123542063		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542063T>C	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.104A>G	4.37:g.123542063T>C	ENSP00000264497:p.His35Arg					IL21-AS1_ENST00000417927.1_RNA	p.H35R	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	161	-			28					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.104A>G	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292013	0.23564	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.63	-1.7	0.08159	.	1.503550	0.03896	N	0.279500	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13072	-1.0523	9	0.23302	T	0.38	0.9318	1.9273	0.03319	0.3357:0.2071:0.0705:0.3867	.	28;28	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	R	35	.	ENSP00000264497:H35R	H	-	2	0	IL21	123761513	0.008000	0.16893	0.794000	0.32065	0.895000	0.52256	0.074000	0.14662	0.048000	0.15891	-0.339000	0.08088	CAC		0.398	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		10	360	0	0	0	1	0	10	360				
IGLV3-22	28795	broad.mit.edu	37	22	23047024	23047024	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23047024A>G	ENST00000390307.2	+	0	126									immunoglobulin lambda variable 3-22 (gene/pseudogene)																		GTTGCCTCCTATGAGCTGACA	0.547																																						ENST00000390307.2																			0																				63.0	66.0	65.0					22																	23047024		1953	4146	6099			0							g.chr22:23047024A>G	Z73666		22q11.2	2012-02-08	2008-09-12		ENSG00000211661	ENSG00000211661		"""Immunoglobulins / IGL locus"""	5906	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-22"""				Standard	NG_000002		Approved				OTTHUMG00000151229		22.37:g.23047024A>G														0	126	+									RNA	SNP	ENST00000390307.2	37																																																																																						0.547	IGLV3-22-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321833.2	NG_000002		61	301	0	0	0	1	0	61	301				
GGT5	2687	broad.mit.edu	37	22	24622171	24622171	+	Missense_Mutation	SNP	G	G	A	rs374513263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622171G>A	ENST00000327365.4	-	8	1518	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	GGT5_ENST00000263112.7_Missense_Mutation_p.R336W|GGT5_ENST00000398292.3_Missense_Mutation_p.R368W|GGT5_ENST00000418439.2_Missense_Mutation_p.R291W	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	368					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGTCCCCCCGGCCATCGATC	0.697																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1102-1104)Cgg>Tgg		gamma-glutamyltransferase 5		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4404		0,0,2202	28.0	32.0	31.0		1102,1006,1102	1.0	0.4	22		31	1,8597		0,1,4298	no	missense,missense,missense	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	101,101,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	368/588,336/555,368/587	24622171	1,13001	2202	4299	6501	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622171G>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1102C>T	22.37:g.24622171G>A	ENSP00000330080:p.Arg368Trp					GGT5_ENST00000263112.7_Missense_Mutation_p.R336W|GGT5_ENST00000398292.3_Missense_Mutation_p.R368W|GGT5_ENST00000418439.2_Missense_Mutation_p.R291W	p.R368W	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1518	-			368					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1102C>T	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243894	0.22796	0.0	1.16E-4	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	4.51	1.02	0.19986	.	0.320649	0.34362	N	0.004035	T	0.10766	0.0263	L	0.60455	1.87	0.20307	N	0.999911	D;P;P;P;P	0.59357	0.985;0.588;0.64;0.825;0.64	P;B;B;B;B	0.49477	0.612;0.14;0.219;0.148;0.219	T	0.13072	-1.0523	10	0.66056	D	0.02	-26.0215	3.4169	0.07378	0.1824:0.0:0.4362:0.3814	.	291;336;368;368;368	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	W	368;336;283;368;291	ENSP00000330080:R368W;ENSP00000263112:R336W;ENSP00000381340:R368W;ENSP00000392146:R291W	ENSP00000263112:R336W	R	-	1	2	GGT5	22952171	0.006000	0.16342	0.450000	0.26969	0.390000	0.30446	0.915000	0.28638	0.421000	0.25980	-0.515000	0.04445	CGG		0.697	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		37	210	0	0	0	1	0	37	210				
TSKS	60385	broad.mit.edu	37	19	50249836	50249836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50249836G>A	ENST00000246801.3	-	6	965	c.883C>T	c.(883-885)Cca>Tca	p.P295S	TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	295					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCGTGTGGCCGCGAGGGT	0.721																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(883-885)Cca>Tca		testis-specific serine kinase substrate							21.0	24.0	23.0					19																	50249836		2197	4291	6488	SO:0001583	missense	60385						protein binding	g.chr19:50249836G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.883C>T	19.37:g.50249836G>A	ENSP00000246801:p.Pro295Ser					TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	p.P295S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	6	965	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	295					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.883C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	9.932	1.215193	0.22373	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.33865	1.39;1.39	4.87	1.49	0.22878	.	1.157390	0.06486	N	0.733790	T	0.20780	0.0500	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.25916	-1.0118	10	0.05833	T	0.94	-6.5428	4.5318	0.12008	0.1991:0.1842:0.6167:0.0	.	295	Q9UJT2	TSKS_HUMAN	S	295;95	ENSP00000246801:P295S;ENSP00000351691:P95S	ENSP00000246801:P295S	P	-	1	0	TSKS	54941648	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.592000	0.23984	0.228000	0.21019	-0.136000	0.14681	CCA		0.721	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		66	282	0	0	0	1	0	66	282				
ITLN1	55600	broad.mit.edu	37	1	160851893	160851893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160851893C>T	ENST00000326245.3	-	4	374	c.259G>A	c.(259-261)Gag>Aag	p.E87K	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	87	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTCATTCTCGTGCACGCTG	0.597																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(259-261)Gag>Aag		intelectin 1 (galactofuranose binding)							103.0	89.0	94.0					1																	160851893		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851893C>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.259G>A	1.37:g.160851893C>T	ENSP00000323587:p.Glu87Lys						p.E87K	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	374	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		87			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.259G>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212354	0.79240	.	.	ENSG00000179914	ENST00000326245	T	0.24538	1.85	4.17	4.17	0.49024	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000007	T	0.47857	0.1468	M	0.86502	2.82	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	T	0.58165	-0.7684	10	0.87932	D	0	-19.0439	14.0049	0.64456	0.0:1.0:0.0:0.0	.	87	Q8WWA0	ITLN1_HUMAN	K	87	ENSP00000323587:E87K	ENSP00000323587:E87K	E	-	1	0	ITLN1	159118517	0.997000	0.39634	0.461000	0.27105	0.603000	0.37013	3.878000	0.56130	2.129000	0.65627	0.655000	0.94253	GAG		0.597	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		109	314	0	0	0	1	0	109	314				
ZNF675	171392	broad.mit.edu	37	19	23836530	23836530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23836530C>T	ENST00000359788.4	-	4	1373	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	402					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAAGCTTTGCCACATTCTTT	0.393																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1204-1206)gGc>gAc		zinc finger protein 675							62.0	63.0	63.0					19																	23836530		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836530C>T		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1205G>A	19.37:g.23836530C>T	ENSP00000352836:p.Gly402Asp					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.G402D	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1373	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	402					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.1205G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	12.56	1.975174	0.34848	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.21324	0.655	0.30822	N	0.737711	P	0.51791	0.948	P	0.52159	0.691	T	0.22347	-1.0219	9	0.87932	D	0	.	8.3949	0.32550	0.0:1.0:0.0:0.0	.	402	Q8TD23	ZN675_HUMAN	D	402	ENSP00000352836:G402D	ENSP00000352836:G402D	G	-	2	0	ZNF675	23628370	0.046000	0.20272	0.076000	0.20297	0.071000	0.16799	0.091000	0.15046	0.482000	0.27582	0.484000	0.47621	GGC		0.393	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		14	338	0	0	0	1	0	14	338				
AGAP6	414189	broad.mit.edu	37	10	51768812	51768812	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51768812C>T	ENST00000374056.4	+	7	1256	c.858C>T	c.(856-858)tcC>tcT	p.S286S	AGAP6_ENST00000412531.3_Silent_p.S309S			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	286	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S309S(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCCTGTGTTCCAATGGCATGC	0.423																																						ENST00000374056.4																			1	Substitution - coding silent(1)	p.S309S(1)	lung(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(856-858)tcC>tcT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001819	synonymous_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768812C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.858C>T	10.37:g.51768812C>T						AGAP6_ENST00000412531.3_Silent_p.S309S	p.S286S			C9IYN2	C9IYN2_HUMAN			7	1256	+			309						Silent	SNP	ENST00000374056.4	37	c.858C>T																																																																																					0.423	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		76	1737	0	0	0	1	0	76	1737				
DRAXIN	374946	broad.mit.edu	37	1	11775243	11775243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11775243C>T	ENST00000294485.5	+	6	1050	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		ACAAATGCTTCGATGACTGCA	0.582																																						ENST00000294485.5																			0											c.(913-915)ttC>ttT		dorsal inhibitory axon guidance protein							180.0	135.0	150.0					1																	11775243		2203	4300	6503	SO:0001819	synonymous_variant	374946							g.chr1:11775243C>T	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.915C>T	1.37:g.11775243C>T							p.F305F	NM_198545.3	NP_940947.3					6	1050	+									Silent	SNP	ENST00000294485.5	37	c.915C>T	CCDS135.1																																																																																				0.582	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		74	247	0	0	0	1	0	74	247				
TAPBP	6892	broad.mit.edu	37	6	33272389	33272389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33272389C>T	ENST00000489157.1	-	4	846	c.634G>A	c.(634-636)Gca>Aca	p.A212T	TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000434618.2_Missense_Mutation_p.A299T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	299					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCAAGGGTTGCTGGCATCAGG	0.592																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(895-897)Gca>Aca		TAP binding protein (tapasin)							30.0	34.0	33.0					6																	33272389		1947	4100	6047	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272389C>T	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.634G>A	6.37:g.33272389C>T	ENSP00000419659:p.Ala212Thr					TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T|TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000489157.1_Missense_Mutation_p.A212T	p.A299T	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			5	1240	-			299			Ig-like C1-type.		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	c.895G>A	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776151	0.31411	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.19	2.15	0.27550	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.444281	0.24513	N	0.037872	T	0.05731	0.0150	L	0.53249	1.67	0.31031	N	0.717382	P;P;P;P;B	0.45212	0.476;0.853;0.799;0.476;0.345	B;B;B;B;B	0.34138	0.045;0.176;0.162;0.031;0.02	T	0.19224	-1.0312	10	0.40728	T	0.16	-2.9447	10.6851	0.45837	0.5381:0.4618:0.0:0.0	.	299;212;317;299;299	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	T	299;317;212;299;299;299	ENSP00000395701:A299T;ENSP00000417949:A317T;ENSP00000419659:A212T;ENSP00000404833:A299T;ENSP00000387803:A299T	ENSP00000404833:A299T	A	-	1	0	TAPBP	33380367	0.290000	0.24343	0.875000	0.34327	0.272000	0.26649	0.443000	0.21644	0.737000	0.32582	-0.335000	0.08231	GCA		0.592	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			11	278	0	0	0	1	0	11	278				
SCN4A	6329	broad.mit.edu	37	17	62021184	62021184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021184C>T	ENST00000435607.1	-	22	4015	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T	SCN4A_ENST00000578147.1_Silent_p.T1313T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC). {ECO:0000269|PubMed:1310898, ECO:0000269|PubMed:18166706}.		membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGTTCCTCCGTCATAAAGA	0.552																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3937-3939)acG>acA		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						85.0	87.0	86.0					17																	62021184		2153	4289	6442	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62021184C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3939G>A	17.37:g.62021184C>T						SCN4A_ENST00000435607.1_Silent_p.T1313T	p.T1313T			P35499	SCN4A_HUMAN			22	4015	-			1313		T -> M (in PMC).			Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3939G>A	CCDS45761.1																																																																																				0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		28	117	0	0	0	1	0	28	117				
AKAP9	10142	broad.mit.edu	37	7	91631371	91631371	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631371T>A	ENST00000359028.2	+	9	2401	c.2176T>A	c.(2176-2178)Tca>Aca	p.S726T	AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T|AKAP9_ENST00000356239.3_Missense_Mutation_p.S714T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	726	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTCAAAGTCAGAAGAAAT	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2176-2178)Tca>Aca		A kinase (PRKA) anchor protein 9							20.0	22.0	21.0					7																	91631371		2007	4204	6211	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631371T>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2176T>A	7.37:g.91631371T>A	ENSP00000351922:p.Ser726Thr					AKAP9_ENST00000356239.3_Missense_Mutation_p.S714T|AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T	p.S726T			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2401	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		726			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.2176T>A		.	.	.	.	.	.	.	.	.	.	T	12.01	1.809990	0.31961	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.50813	0.73;0.73;0.73	5.62	4.39	0.52855	.	0.000000	0.35151	N	0.003401	T	0.51261	0.1664	L	0.27053	0.805	0.39583	D	0.969461	P;P;D;P	0.69078	0.63;0.862;0.997;0.952	B;P;D;P	0.66196	0.365;0.646;0.942;0.699	T	0.49799	-0.8901	10	0.33940	T	0.23	.	12.6987	0.57018	0.0:0.0:0.1373:0.8627	.	726;714;714;726	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	714;726;726;726;726	ENSP00000348573:S714T;ENSP00000351922:S726T;ENSP00000350813:S726T	ENSP00000348573:S714T	S	+	1	0	AKAP9	91469307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.939000	0.40213	2.276000	0.75962	0.529000	0.55759	TCA		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		31	133	0	0	0	1	0	31	133				
CPS1	1373	broad.mit.edu	37	2	211502491	211502491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211502491C>A	ENST00000233072.5	+	22	2949	c.2753C>A	c.(2752-2754)tCa>tAa	p.S918*	CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	918			S -> P (in CPS1D). {ECO:0000269|PubMed:15617192}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAGCAGATTTCAAAATGCCTT	0.438																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2752-2754)tCa>tAa		carbamoyl-phosphate synthase 1, mitochondrial							83.0	91.0	89.0					2																	211502491		2203	4300	6503	SO:0001587	stop_gained	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211502491C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2753C>A	2.37:g.211502491C>A	ENSP00000233072:p.Ser918*					CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*|CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*	p.S918*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	22	2949	+			918		S -> P (in CPS1D).			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Nonsense_Mutation	SNP	ENST00000233072.5	37	c.2753C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	40	8.056447	0.98632	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.47	5.47	0.80525	.	0.110943	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.9867	14.2331	0.65906	0.0:0.7351:0.2649:0.0	.	.	.	.	X	924;926;918;467	.	ENSP00000233072:S918X	S	+	2	0	CPS1	211210736	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.994000	0.70623	2.708000	0.92522	0.650000	0.86243	TCA		0.438	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			83	337	1	0	5.71386e-39	1	6.9007e-39	83	337				
PRUNE2	158471	broad.mit.edu	37	9	79320829	79320829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320829G>T	ENST00000376718.3	-	8	6484	c.6361C>A	c.(6361-6363)Ctc>Atc	p.L2121I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1762I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2121					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGCACTGAGGTGCTTCTCA	0.488																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5284-5286)Ctc>Atc		prune homolog 2 (Drosophila)							171.0	157.0	161.0					9																	79320829		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320829G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6361C>A	9.37:g.79320829G>T	ENSP00000365908:p.Leu2121Ile					PRUNE2_ENST00000376718.3_Missense_Mutation_p.L2121I	p.L1762I			Q8WUY3	PRUN2_HUMAN			8	6484	-			2121					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5284C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.809|4.809	0.150360|0.150360	0.09185|0.09185	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.43688|.	0.94;0.94|.	5.46|5.46	-10.9|-10.9	0.00192|0.00192	.|.	1.523120|.	0.03547|.	N|.	0.224783|.	T|T	0.07098|0.07098	0.0180|0.0180	N|N	0.02315|0.02315	-0.6|-0.6	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.14755|0.14755	-1.0461|-1.0461	10|5	0.13853|.	T|.	0.58|.	4.6718|4.6718	1.9485|1.9485	0.03361|0.03361	0.1782:0.2471:0.3455:0.2292|0.1782:0.2471:0.3455:0.2292	.|.	2121|.	Q8WUY3|.	PRUN2_HUMAN|.	I|H	2121;1762;2120|1442	ENSP00000365908:L2121I;ENSP00000397425:L1762I|.	ENSP00000365908:L2121I|.	L|P	-|-	1|2	0|0	PRUNE2|PRUNE2	78510649|78510649	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-0.679000|-0.679000	0.05203|0.05203	-1.730000|-1.730000	0.01362|0.01362	-1.047000|-1.047000	0.02352|0.02352	CTC|CCT		0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		104	589	1	0	4.85316e-53	1	6.04383e-53	104	589				
ITGAV	3685	broad.mit.edu	37	2	187531458	187531458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187531458C>T	ENST00000261023.3	+	22	2468	c.2194C>T	c.(2194-2196)Cac>Tac	p.H732Y	ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	732					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TTTCAGTGTGCACCAGCAGTC	0.318																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2194-2196)Cac>Tac		integrin, alpha V							101.0	97.0	99.0					2																	187531458		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187531458C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2194C>T	2.37:g.187531458C>T	ENSP00000261023:p.His732Tyr					ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y|ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|AC017101.10_ENST00000453665.1_RNA	p.H732Y	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	22	2468	+			732					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2194C>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463354	0.84425	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.44881	0.91;0.91;0.91	5.67	5.67	0.87782	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.62723	1.935	0.80722	D	1	P;P;P	0.47910	0.902;0.659;0.902	P;P;P	0.54270	0.747;0.5;0.747	T	0.56589	-0.7954	10	0.51188	T	0.08	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	686;696;732	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	Y	732;696;686	ENSP00000261023:H732Y;ENSP00000364042:H696Y;ENSP00000404291:H686Y	ENSP00000261023:H732Y	H	+	1	0	ITGAV	187239703	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.907000	0.56348	2.664000	0.90586	0.557000	0.71058	CAC		0.318	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		55	330	0	0	0	1	0	55	330				
DDX10	1662	broad.mit.edu	37	11	108709201	108709201	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108709201A>G	ENST00000322536.3	+	14	2123	c.1994A>G	c.(1993-1995)aAg>aGg	p.K665R	DDX10_ENST00000526794.1_Missense_Mutation_p.K665R	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	665					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCCAGCATCAAGAAAAAAATG	0.323			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1993-1995)aAg>aGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							64.0	70.0	68.0					11																	108709201		2201	4297	6498	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108709201A>G	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1994A>G	11.37:g.108709201A>G	ENSP00000314348:p.Lys665Arg					DDX10_ENST00000322536.3_Missense_Mutation_p.K665R	p.K665R			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	14	2026	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	665					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.1994A>G	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538758	0.65085	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.46819	0.86;0.87	5.72	5.72	0.89469	.	0.243433	0.35615	N	0.003099	T	0.56558	0.1993	M	0.64404	1.975	0.45318	D	0.998318	D;P	0.56521	0.976;0.877	P;B	0.52598	0.703;0.197	T	0.58584	-0.7611	10	0.48119	T	0.1	-11.3921	13.3722	0.60719	1.0:0.0:0.0:0.0	.	665;665	Q13206;E9PIF2	DDX10_HUMAN;.	R	665;571;665	ENSP00000314348:K665R;ENSP00000432032:K665R	ENSP00000314348:K665R	K	+	2	0	DDX10	108214411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.130000	0.57964	2.176000	0.68965	0.528000	0.53228	AAG		0.323	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		63	258	0	0	0	1	0	63	258				
WDR11	55717	broad.mit.edu	37	10	122626665	122626665	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122626665C>A	ENST00000263461.6	+	9	1524	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAGACCTTTCCTTAGATAACA	0.363																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1276-1278)tcC>tcA		WD repeat domain 11							122.0	115.0	117.0					10																	122626665		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122626665C>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1278C>A	10.37:g.122626665C>A							p.S426S	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			9	1524	+			426					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.1278C>A	CCDS7619.1																																																																																				0.363	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			62	262	1	0	1.34159e-35	1	1.60235e-35	62	262				
EP400NL	347918	broad.mit.edu	37	12	132589527	132589527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132589527C>T	ENST00000376625.4	+	1	988	c.962C>T	c.(961-963)tCc>tTc	p.S321F	EP400NL_ENST00000389560.2_Missense_Mutation_p.S252F|EP400NL_ENST00000392352.1_Missense_Mutation_p.S189F|EP400NL_ENST00000361109.5_Missense_Mutation_p.S168F|EP400NL_ENST00000443539.2_Missense_Mutation_p.S189F			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	321										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CCAGGCCTTTCCAGCCTCCCA	0.662																																						ENST00000376625.4																			0				endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						c.(961-963)tCc>tTc		EP400 N-terminal like							7.0	10.0	9.0					12																	132589527		679	1565	2244	SO:0001583	missense	347918							g.chr12:132589527C>T	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.962C>T	12.37:g.132589527C>T	ENSP00000365812:p.Ser321Phe					EP400NL_ENST00000392352.1_Missense_Mutation_p.S189F|EP400NL_ENST00000389560.2_Missense_Mutation_p.S252F|EP400NL_ENST00000443539.2_Missense_Mutation_p.S189F|EP400NL_ENST00000361109.5_Missense_Mutation_p.S168F	p.S321F							1	988	+								A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	ENST00000376625.4	37	c.962C>T		.	.	.	.	.	.	.	.	.	.	C	17.96	3.516227	0.64634	.	.	ENSG00000185684	ENST00000389560;ENST00000443539;ENST00000392352;ENST00000407361;ENST00000361109;ENST00000376625	.	.	.	2.98	2.98	0.34508	.	0.000000	0.32703	U	0.005754	T	0.74846	0.3770	.	.	.	0.32459	N	0.544353	D;D;D;D	0.76494	0.999;0.997;0.999;0.997	D;D;D;D	0.83275	0.996;0.968;0.996;0.968	T	0.82604	-0.0375	8	0.87932	D	0	.	14.2175	0.65802	0.0:1.0:0.0:0.0	.	168;321;189;321	C9JIE5;Q6ZTU2-6;Q6ZTU2-5;Q6ZTU2	.;.;.;E400N_HUMAN	F	252;189;189;189;168;321	.	ENSP00000328997:S253F	S	+	2	0	EP400NL	131155480	0.990000	0.36364	0.978000	0.43139	0.784000	0.44337	4.478000	0.60230	1.356000	0.45884	0.305000	0.20034	TCC		0.662	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613		11	41	0	0	0	1	0	11	41				
NT5DC2	64943	broad.mit.edu	37	3	52558576	52558576	+	Silent	SNP	C	C	T	rs374723543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52558576C>T	ENST00000307076.4	-	14	1873	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000422318.2_Silent_p.P528P|NT5DC2_ENST00000459839.1_Silent_p.P503P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	491				P -> S (in Ref. 2; BAB14064). {ECO:0000305}.			hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGTGCTGCAGCGGCGTACGGC	0.627																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(1471-1473)ccG>ccA		5'-nucleotidase domain containing 2							73.0	71.0	72.0					3																	52558576		2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52558576C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1473G>A	3.37:g.52558576C>T						NT5DC2_ENST00000422318.2_Silent_p.P528P|NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000459839.1_Silent_p.P503P	p.P491P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	14	1873	-			491	P -> S (in Ref. 2; BAB14064).				C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.1473G>A	CCDS2858.1																																																																																				0.627	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		82	391	0	0	0	1	0	82	391				
TRH	7200	broad.mit.edu	37	3	129695746	129695746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129695746G>A	ENST00000302649.3	+	3	943	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TRH_ENST00000507066.1_Missense_Mutation_p.R135Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	139					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CATCCTGGCCGGCGCTCCCCC	0.632																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(415-417)cGg>cAg		thyrotropin-releasing hormone							59.0	55.0	57.0					3																	129695746		2203	4300	6503	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695746G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.416G>A	3.37:g.129695746G>A	ENSP00000303452:p.Arg139Gln					TRH_ENST00000507066.1_Missense_Mutation_p.R135Q	p.R139Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	943	+			139					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.416G>A	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924578	0.52653	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.51071	0.72;0.72	4.55	2.71	0.32032	.	0.175624	0.48767	D	0.000173	T	0.62816	0.2459	M	0.82323	2.585	0.37560	D	0.919025	D	0.89917	1.0	P	0.62560	0.904	T	0.65721	-0.6099	10	0.59425	D	0.04	-13.5612	6.7371	0.23415	0.1006:0.1783:0.7211:0.0	.	139	P20396	TRH_HUMAN	Q	139;135	ENSP00000303452:R139Q;ENSP00000426522:R135Q	ENSP00000303452:R139Q	R	+	2	0	TRH	131178436	0.974000	0.33945	1.000000	0.80357	0.284000	0.27059	1.012000	0.29924	0.440000	0.26502	0.591000	0.81541	CGG		0.632	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		83	392	0	0	0	1	0	83	392				
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274433G>A	ENST00000295453.3	+	11	1502	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	484					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CATGGCCTTCGCCGCCTGCCT	0.751																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1450-1452)Gcc>Acc		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						13.0	16.0	15.0					2																	233274433		2183	4267	6450	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274433G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1450G>A	2.37:g.233274433G>A	ENSP00000295453:p.Ala484Thr						p.A484T	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1502	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	484					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1450G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873294	0.51695	.	.	ENSG00000163286	ENST00000295453	D	0.97455	-4.39	2.54	1.59	0.23543	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	H	0.95745	3.715	0.47949	D	0.999555	D	0.89917	1.0	D	0.91635	0.999	D	0.98316	1.0526	10	0.87932	D	0	.	10.0883	0.42432	0.0:0.2075:0.7925:0.0	.	484	P10696	PPBN_HUMAN	T	484	ENSP00000295453:A484T	ENSP00000295453:A484T	A	+	1	0	ALPPL2	232982677	1.000000	0.71417	0.802000	0.32245	0.032000	0.12392	7.116000	0.77119	0.345000	0.23873	0.205000	0.17691	GCC		0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		46	118	0	0	0	1	0	46	118				
CYTH3	9265	broad.mit.edu	37	7	6205375	6205375	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6205375T>G	ENST00000350796.3	-	10	1026	c.890A>C	c.(889-891)gAa>gCa	p.E297A	CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGTTGTGTATTCAAAGTAATA	0.612																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(889-891)gAa>gCa		cytohesin 3							77.0	74.0	75.0					7																	6205375		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6205375T>G	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.890A>C	7.37:g.6205375T>G	ENSP00000297044:p.Glu297Ala					CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A	p.E297A	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			10	1026	-			298			PH.		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.890A>C	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	31	5.068314	0.93950	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.77098	-1.07;-1.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	M	0.75085	2.285	0.80722	D	1	P;B	0.43477	0.808;0.323	P;B	0.53689	0.732;0.183	D	0.86719	0.1941	10	0.72032	D	0.01	.	15.1464	0.72657	0.0:0.0:0.0:1.0	.	212;297	B7Z2V9;O43739-2	.;.	A	297;212	ENSP00000297044:E297A;ENSP00000379967:E212A	ENSP00000297044:E297A	E	-	2	0	CYTH3	6171900	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.945000	0.87732	2.057000	0.61298	0.459000	0.35465	GAA		0.612	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		55	266	0	0	0	1	0	55	266				
CTSS	1520	broad.mit.edu	37	1	150724344	150724344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150724344G>A	ENST00000368985.3	-	5	800	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CTSS_ENST00000448301.2_Silent_p.C130C|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	180					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACCATTGCAGCCTTTGT	0.488																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(538-540)tgC>tgT		cathepsin S							225.0	200.0	208.0					1																	150724344		2203	4300	6503	SO:0001819	synonymous_variant	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150724344G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.540C>T	1.37:g.150724344G>A						CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.C130C	p.C180C	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	800	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		180					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	37	c.540C>T	CCDS968.1																																																																																				0.488	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		106	577	0	0	0	1	0	106	577				
CDH17	1015	broad.mit.edu	37	8	95189834	95189834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95189834C>A	ENST00000027335.3	-	4	390	c.266G>T	c.(265-267)aGa>aTa	p.R89I	CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTGAGTAGATCTTGTTTCCCT	0.463																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(265-267)aGa>aTa		cadherin 17, LI cadherin (liver-intestine)							227.0	216.0	220.0					8																	95189834		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95189834C>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.266G>T	8.37:g.95189834C>A	ENSP00000027335:p.Arg89Ile					CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	p.R89I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	390	-	Breast(36;4.65e-06)		89			Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.266G>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102864	0.20632	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60299	0.2;4.58;0.2;0.69	6.04	2.23	0.28157	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000011	T	0.52338	0.1728	L	0.39326	1.205	0.27924	N	0.93813	P;D	0.57257	0.836;0.979	B;P	0.51806	0.308;0.68	T	0.48364	-0.9042	10	0.66056	D	0.02	-11.6902	5.5827	0.17258	0.0:0.5728:0.1352:0.292	.	89;89	E7EN24;Q12864	.;CAD17_HUMAN	I	89	ENSP00000027335:R89I;ENSP00000392811:R89I;ENSP00000401468:R89I;ENSP00000428189:R89I	ENSP00000027335:R89I	R	-	2	0	CDH17	95259010	0.969000	0.33509	0.531000	0.27976	0.134000	0.20937	0.796000	0.26986	0.444000	0.26612	-0.251000	0.11542	AGA		0.463	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		90	488	1	0	9.86815e-39	1	1.19053e-38	90	488				
SUV420H2	84787	broad.mit.edu	37	19	55853326	55853326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55853326G>T	ENST00000255613.3	+	2	270	c.22G>T	c.(22-24)Gca>Tca	p.A8S	AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	8					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAGTGACAGCACGAGAACT	0.652																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(22-24)Gca>Tca		suppressor of variegation 4-20 homolog 2 (Drosophila)							107.0	92.0	97.0					19																	55853326		2203	4300	6503	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853326G>T	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.22G>T	19.37:g.55853326G>T	ENSP00000255613:p.Ala8Ser					AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	p.A8S	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	2	270	+	Breast(117;0.191)		8					Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.22G>T	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841318	0.71488	.	.	ENSG00000133247	ENST00000255613;ENST00000402499	.	.	.	3.35	2.29	0.28610	.	0.100342	0.38436	N	0.001683	T	0.63355	0.2504	L	0.39147	1.195	0.44694	D	0.997688	D	0.67145	0.996	D	0.65874	0.939	T	0.64715	-0.6342	9	0.59425	D	0.04	0.7173	11.485	0.50348	0.0:0.0:0.8176:0.1823	.	8	Q86Y97	SV422_HUMAN	S	8	.	ENSP00000255613:A8S	A	+	1	0	SUV420H2	60545138	1.000000	0.71417	0.964000	0.40570	0.765000	0.43378	7.043000	0.76572	0.945000	0.37605	-0.311000	0.09066	GCA		0.652	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		110	497	1	0	5.13333e-58	1	6.43346e-58	110	497				
ENTPD2	954	broad.mit.edu	37	9	139944442	139944442	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139944442C>A	ENST00000355097.2	-	7	1077		c.e7-1		ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Splice_Site|RP11-229P13.15_ENST00000439076.1_RNA	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2						G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGAGAAGGCCTGTAGGGGGC	0.632											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.e7-1		ectonucleoside triphosphate diphosphohydrolase 2							47.0	53.0	51.0					9																	139944442		2203	4300	6503	SO:0001630	splice_region_variant	954					integral to membrane	ATP binding	g.chr9:139944442C>A	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1030-1G>T	9.37:g.139944442C>A			OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Splice_Site		NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	7	1077	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)						O15464|Q5SPY6|Q5SPY7	Splice_Site	SNP	ENST00000355097.2	37		CCDS7026.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658255	0.67586	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9858	0.80151	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENTPD2	139064263	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	5.269000	0.65542	2.208000	0.71279	0.561000	0.74099	.		0.632	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468	Intron	60	386	1	0	2.6711e-34	1	3.17551e-34	60	386				
VPS26A	9559	broad.mit.edu	37	10	70892692	70892692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70892692C>T	ENST00000373382.1	+	3	695	c.42C>T	c.(40-42)atC>atT	p.I14I	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000395098.1_Silent_p.I14I			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	14					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TTTGTGAGATCGATATTGTTC	0.333																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(40-42)atC>atT		vacuolar protein sorting 26 homolog A (S. pombe)							85.0	89.0	88.0					10																	70892692		2203	4300	6503	SO:0001819	synonymous_variant	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70892692C>T	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.42C>T	10.37:g.70892692C>T						VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Silent_p.I14I|VPS26A_ENST00000546041.1_5'UTR	p.I14I			O75436	VP26A_HUMAN			3	695	+			14					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	c.42C>T	CCDS7286.1																																																																																				0.333	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		78	344	0	0	0	1	0	78	344				
GPX2	2877	broad.mit.edu	37	14	65409265	65409265	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65409265G>A	ENST00000389614.5	-	1	266	c.180C>T	c.(178-180)cgC>cgT	p.R60R	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	60					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GGACCACCAGGCGCCTGGGAA	0.587																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(178-180)cgC>cgT		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						81.0	86.0	85.0					14																	65409265		1953	4119	6072	SO:0001819	synonymous_variant	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65409265G>A		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.180C>T	14.37:g.65409265G>A						CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.R60R	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	1	266	-			60					Q6PJ52|Q8WWI7|Q9NRP9	Silent	SNP	ENST00000389614.5	37	c.180C>T	CCDS41964.1																																																																																				0.587	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			68	426	0	0	0	1	0	68	426				
TTBK1	84630	broad.mit.edu	37	6	43251286	43251286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43251286A>C	ENST00000259750.4	+	14	2891	c.2808A>C	c.(2806-2808)aaA>aaC	p.K936N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	936					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTGCGGAGAAAACCCACCTCA	0.637																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2806-2808)aaA>aaC		tau tubulin kinase 1							78.0	71.0	73.0					6																	43251286		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251286A>C	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2808A>C	6.37:g.43251286A>C	ENSP00000259750:p.Lys936Asn						p.K936N	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	2891	+			936					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.2808A>C	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074841	0.55646	.	.	ENSG00000146216	ENST00000259750	T	0.57273	0.41	5.14	2.48	0.30137	.	0.073927	0.53938	D	0.000057	T	0.40196	0.1107	L	0.50333	1.59	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	T	0.35450	-0.9788	10	0.66056	D	0.02	.	7.7415	0.28843	0.6333:0.0:0.3667:0.0	.	936	Q5TCY1	TTBK1_HUMAN	N	936	ENSP00000259750:K936N	ENSP00000259750:K936N	K	+	3	2	TTBK1	43359264	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.055000	0.30467	0.190000	0.20209	0.379000	0.24179	AAA		0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			14	465	0	0	0	1	0	14	465				
GALNTL6	442117	broad.mit.edu	37	4	173873248	173873248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:173873248C>T	ENST00000506823.1	+	10	1867	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	404					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTACCAGCGGCGGCCGGAGTA	0.512																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1210-1212)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							43.0	51.0	48.0					4																	173873248		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173873248C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1210C>T	4.37:g.173873248C>T	ENSP00000423313:p.Arg404Trp					GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	p.R404W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			10	1867	+			404					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1210C>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.387781	0.82902	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68903	-0.36;-0.36	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	T	0.80944	0.4721	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.83486	0.0067	10	0.87932	D	0	.	13.997	0.64409	0.1514:0.8486:0.0:0.0	.	404	Q49A17	GLTL6_HUMAN	W	404;387	ENSP00000423313:R404W;ENSP00000423827:R387W	ENSP00000423313:R404W	R	+	1	2	GALNTL6	174109823	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.742000	0.62103	2.582000	0.87167	0.297000	0.19635	CGG		0.512	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		60	305	0	0	0	1	0	60	305				
MRVI1	10335	broad.mit.edu	37	11	10603427	10603427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10603427C>T	ENST00000436272.1	-	18	2344	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1_ENST00000547195.1_Missense_Mutation_p.A692T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	756	Glu-rich.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTGCTGTAGGCTTCTTCCTCC	0.562																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(2074-2076)Gcc>Acc		murine retrovirus integration site 1 homolog							78.0	83.0	81.0					11																	10603427		2052	4187	6239	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10603427C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2266G>A	11.37:g.10603427C>T	ENSP00000412229:p.Ala756Thr					MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|MRVI1_ENST00000436272.1_Missense_Mutation_p.A756T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1-AS1_ENST00000529829.1_RNA	p.A692T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	18	2574	-			756					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.2074G>A		.	.	.	.	.	.	.	.	.	.	C	29.5	5.011331	0.93346	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.38887	2.23;2.25;1.66;1.66;1.11;1.11;2.05;1.77;2.23;1.66	5.46	5.46	0.80206	.	0.062155	0.64402	D	0.000006	T	0.64271	0.2583	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.926;0.999;0.999;0.998	T	0.63902	-0.6532	10	0.56958	D	0.05	-11.5738	19.2738	0.94021	0.0:1.0:0.0:0.0	.	577;756;775;774	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	T	774;757;756;692;692;468;468;783;577;775;692	ENSP00000414598:A774T;ENSP00000412229:A756T;ENSP00000448278:A692T;ENSP00000446764:A692T;ENSP00000441971:A468T;ENSP00000401205:A468T;ENSP00000412130:A783T;ENSP00000437784:A577T;ENSP00000432436:A775T;ENSP00000432067:A692T	ENSP00000307885:A757T	A	-	1	0	MRVI1	10560003	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.505000	0.66981	2.720000	0.93068	0.655000	0.94253	GCC		0.562	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		75	275	0	0	0	1	0	75	275				
P2RY14	9934	broad.mit.edu	37	3	150931407	150931407	+	Missense_Mutation	SNP	C	C	T	rs575550811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931407C>T	ENST00000309170.3	-	3	1010	c.698G>A	c.(697-699)cGc>cAc	p.R233H	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	233					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATATGTTGCGGCTAGATTT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		20086	0.0		0.0	False		,,,				2504	0.001					ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(697-699)cGc>cAc		purinergic receptor P2Y, G-protein coupled, 14							85.0	88.0	87.0					3																	150931407		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931407C>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.698G>A	3.37:g.150931407C>T	ENSP00000308361:p.Arg233His					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H	p.R233H	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1010	-			233					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.698G>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263257	0.39995	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.40225	1.04;1.04	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69557	0.3124	M	0.85197	2.74	0.40271	D	0.978282	D	0.89917	1.0	D	0.79108	0.992	T	0.67317	-0.5701	10	0.30854	T	0.27	-24.5079	20.2789	0.98501	0.0:1.0:0.0:0.0	.	233	Q15391	P2Y14_HUMAN	H	233	ENSP00000308361:R233H;ENSP00000408733:R233H	ENSP00000308361:R233H	R	-	2	0	P2RY14	152414097	0.958000	0.32768	1.000000	0.80357	0.496000	0.33645	3.959000	0.56744	2.788000	0.95919	0.650000	0.86243	CGC		0.388	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		108	437	0	0	0	1	0	108	437				
CENPF	1063	broad.mit.edu	37	1	214818475	214818475	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214818475G>T	ENST00000366955.3	+	13	5730	c.5562G>T	c.(5560-5562)caG>caT	p.Q1854H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1950					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGATCACCAGGAGTTACTCC	0.343																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5560-5562)caG>caT		centromere protein F, 350/400kDa							37.0	40.0	39.0					1																	214818475		2202	4299	6501	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818475G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5562G>T	1.37:g.214818475G>T	ENSP00000355922:p.Gln1854His						p.Q1854H	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	5730	+			1950					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.5562G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	3.108	-0.183245	0.06340	.	.	ENSG00000117724	ENST00000366955	T	0.03635	3.86	4.91	0.0819	0.14426	.	1.540600	0.04574	N	0.393769	T	0.05593	0.0147	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.43556	-0.9384	10	0.51188	T	0.08	.	5.1055	0.14781	0.1513:0.1171:0.6118:0.1198	.	1950	P49454	CENPF_HUMAN	H	1854	ENSP00000355922:Q1854H	ENSP00000355922:Q1854H	Q	+	3	2	CENPF	212885098	0.994000	0.37717	0.008000	0.14137	0.207000	0.24258	0.915000	0.28638	0.101000	0.17610	0.609000	0.83330	CAG		0.343	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		56	235	1	0	2.64514e-33	1	3.13428e-33	56	235				
RARG	5916	broad.mit.edu	37	12	53607427	53607427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607427C>T	ENST00000425354.2	-	8	1358	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Missense_Mutation_p.G280R|RARG_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000543726.1_Missense_Mutation_p.G269R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	291	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGGTCAGCCCGTCGGAGAAG	0.617											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(871-873)Ggg>Agg		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						104.0	91.0	96.0					12																	53607427		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607427C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.871G>A	12.37:g.53607427C>T	ENSP00000388510:p.Gly291Arg		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.G269R|RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000338561.5_Missense_Mutation_p.G280R	p.G291R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			8	1358	-			291			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.871G>A	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391539	0.83011	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.997;0.999	D	0.99744	1.1016	10	0.87932	D	0	.	17.3466	0.87311	0.0:1.0:0.0:0.0	.	328;269;291;280	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	R	291;291;53;219;280;269;328	ENSP00000388510:G291R;ENSP00000377947:G291R;ENSP00000332695:G219R;ENSP00000343698:G280R;ENSP00000444335:G269R	ENSP00000332695:G219R	G	-	1	0	RARG	51893694	1.000000	0.71417	0.948000	0.38648	0.683000	0.39861	7.773000	0.85462	2.466000	0.83321	0.313000	0.20887	GGG		0.617	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		66	298	0	0	0	1	0	66	298				
ENPP6	133121	broad.mit.edu	37	4	185074810	185074810	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185074810G>T	ENST00000296741.2	-	2	459	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	106					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CTTTGTTGACGCCAATGTCAA	0.502																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(316-318)ggC>ggA		ectonucleotide pyrophosphatase/phosphodiesterase 6							154.0	131.0	139.0					4																	185074810		2203	4300	6503	SO:0001819	synonymous_variant	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185074810G>T	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.318C>A	4.37:g.185074810G>T							p.G106G	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	2	459	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	106					Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	37	c.318C>A	CCDS3834.1																																																																																				0.502	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		13	242	1	0	4.3838e-07	1	4.54049e-07	13	242				
WDR34	89891	broad.mit.edu	37	9	131397074	131397074	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397074C>T	ENST00000372715.2	-	7	1168	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	370						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGTGAGGGCTGCCTCTCCA	0.652																																						ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(1108-1110)Gcc>Acc		WD repeat domain 34							23.0	28.0	27.0					9																	131397074		2202	4299	6501	SO:0001583	missense	89891					cytoplasm		g.chr9:131397074C>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1108G>A	9.37:g.131397074C>T	ENSP00000361800:p.Ala370Thr					WDR34_ENST00000483181.1_5'UTR	p.A370T	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			7	1168	-			370					Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1108G>A	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059582	0.36373	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051625	0.85682	D	0.000000	T	0.37376	0.1001	M	0.74258	2.255	0.58432	D	0.999999	B	0.28998	0.23	B	0.24394	0.053	T	0.27365	-1.0076	10	0.49607	T	0.09	-3.501	17.8239	0.88658	0.0:1.0:0.0:0.0	.	370	Q96EX3	WDR34_HUMAN	T	370	ENSP00000361800:A370T	ENSP00000361800:A370T	A	-	1	0	WDR34	130436895	1.000000	0.71417	0.417000	0.26559	0.179000	0.23085	5.565000	0.67365	2.448000	0.82819	0.561000	0.74099	GCC		0.652	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		7	108	0	0	0	1	0	7	108				
AKAP11	11215	broad.mit.edu	37	13	42876137	42876137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42876137G>A	ENST00000025301.2	+	8	3430	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1085					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTTGCATGTGGAAGATAAAC	0.428																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(3253-3255)gtG>gtA		A kinase (PRKA) anchor protein 11							135.0	129.0	131.0					13																	42876137		2203	4300	6503	SO:0001819	synonymous_variant	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876137G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3255G>A	13.37:g.42876137G>A							p.V1085V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3430	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1085					O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	c.3255G>A	CCDS9383.1																																																																																				0.428	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		87	346	0	0	0	1	0	87	346				
MYCBP2	23077	broad.mit.edu	37	13	77825349	77825349	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77825349C>A	ENST00000544440.2	-	15	2221	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G773V					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)		TGTACAGTCTCCACAGACAGT	0.493																																						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.(2317-2319)gGa>gTa		MYC binding protein 2, E3 ubiquitin protein ligase							111.0	93.0	99.0					13																	77825349		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77825349C>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.2204G>T	13.37:g.77825349C>A	ENSP00000444596:p.Gly735Val					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G735V	p.G773V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	15	2584	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	735			Cys-rich.			Missense_Mutation	SNP	ENST00000544440.2	37	c.2318G>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.379780	0.82682	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31247	1.51;1.5;1.51	5.53	5.53	0.82687	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55398	-0.8147	10	0.59425	D	0.04	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	735	O75592	MYCB2_HUMAN	V	735;773;735	ENSP00000349892:G735V;ENSP00000384288:G773V;ENSP00000444596:G735V	ENSP00000349892:G735V	G	-	2	0	MYCBP2	76723350	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.585000	0.87301	0.563000	0.77884	GGA		0.493	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		13	299	1	0	0.00136819	1	0.0013818	13	299				
ZDBF2	57683	broad.mit.edu	37	2	207175371	207175371	+	Missense_Mutation	SNP	G	G	A	rs572938202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207175371G>A	ENST00000374423.3	+	5	6505	c.6119G>A	c.(6118-6120)cGg>cAg	p.R2040Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2040							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGATATTCGGTTTATATGC	0.353																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6118-6120)cGg>cAg		zinc finger, DBF-type containing 2							25.0	24.0	24.0					2																	207175371		1824	4075	5899	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175371G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6119G>A	2.37:g.207175371G>A	ENSP00000363545:p.Arg2040Gln						p.R2040Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	6505	+			2040					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6119G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	4.347	0.063834	0.08388	.	.	ENSG00000204186	ENST00000374423	T	0.41065	1.01	5.79	-10.1	0.00402	.	.	.	.	.	T	0.12646	0.0307	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14392	-1.0474	9	0.11485	T	0.65	.	5.8344	0.18599	0.2615:0.1874:0.4593:0.0918	.	2040	Q9HCK1	ZDBF2_HUMAN	Q	2040	ENSP00000363545:R2040Q	ENSP00000363545:R2040Q	R	+	2	0	ZDBF2	206883616	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.302000	0.02746	-2.191000	0.00756	-1.155000	0.01812	CGG		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		12	76	0	0	0	1	0	12	76				
SMG1	23049	broad.mit.edu	37	16	18849783	18849783	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18849783T>G	ENST00000446231.2	-	44	7502	c.7090A>C	c.(7090-7092)Agc>Cgc	p.S2364R	SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2364	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACTCTAAGGCTTTTACCTTGA	0.343																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(7090-7092)Agc>Cgc		SMG1 phosphatidylinositol 3-kinase-related kinase							170.0	151.0	157.0					16																	18849783		1827	4089	5916	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18849783T>G	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7090A>C	16.37:g.18849783T>G	ENSP00000402515:p.Ser2364Arg					SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R	p.S2364R			Q96Q15	SMG1_HUMAN			44	7502	-			2364			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.7090A>C	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078884	0.76528	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.74632	-0.86;-0.86	5.87	5.87	0.94306	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	N	0.02842	-0.48	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71248	-0.4649	10	0.17369	T	0.5	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	2364	Q96Q15	SMG1_HUMAN	R	2364	ENSP00000402515:S2364R;ENSP00000374118:S2364R	ENSP00000374118:S2364R	S	-	1	0	SMG1	18757284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.970000	0.88000	2.371000	0.80710	0.533000	0.62120	AGC		0.343	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		73	275	0	0	0	1	0	73	275				
MYO9A	4649	broad.mit.edu	37	15	72146819	72146819	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146819A>T	ENST00000356056.5	-	35	6717	c.6245T>A	c.(6244-6246)cTc>cAc	p.L2082H	MYO9A_ENST00000564571.1_Missense_Mutation_p.L2082H|MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2082	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAGTTTATGAGCTTTTCCAC	0.408																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6244-6246)cTc>cAc		myosin IXA							150.0	136.0	141.0					15																	72146819		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72146819A>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6245T>A	15.37:g.72146819A>T	ENSP00000348349:p.Leu2082His					MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H|MYO9A_ENST00000564571.1_Missense_Mutation_p.L2082H|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H	p.L2082H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			35	6717	-			2082			Rho-GAP.|Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6245T>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.993873	0.93167	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.21543	2.0;2.0;2.0	5.99	5.99	0.97316	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.53997	0.1831	M	0.91818	3.245	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.65212	-0.6223	9	0.87932	D	0	.	16.4719	0.84113	1.0:0.0:0.0:0.0	.	2082	B2RTY4	MYO9A_HUMAN	H	2082;2153;2063	ENSP00000348349:L2082H;ENSP00000399162:L2153H;ENSP00000398250:L2063H	ENSP00000348349:L2082H	L	-	2	0	MYO9A	69933873	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.307000	0.96226	2.292000	0.77174	0.482000	0.46254	CTC		0.408	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		115	496	0	0	0	1	0	115	496				
DPP3	10072	broad.mit.edu	37	11	66259196	66259196	+	Silent	SNP	C	C	T	rs201030149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66259196C>T	ENST00000360510.2	+	9	1022	c.957C>T	c.(955-957)cgC>cgT	p.R319R	DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000532677.1_Silent_p.R338R|DPP3_ENST00000541961.1_Silent_p.R319R|DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000531863.1_Silent_p.R339R			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	319					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGAGCTACCGCGACCCCTTTG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		14330	0.001		0.0	False		,,,				2504	0.0					ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1012-1014)cgC>cgT		dipeptidyl-peptidase 3							167.0	170.0	169.0					11																	66259196		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259196C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.957C>T	11.37:g.66259196C>T						DPP3_ENST00000531863.1_Silent_p.R339R|DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000360510.2_Silent_p.R319R|DPP3_ENST00000541961.1_Silent_p.R319R	p.R338R	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			9	1415	+			319					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1014C>T	CCDS8141.1																																																																																				0.612	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			247	1041	0	0	0	1	0	247	1041				
MOB4	25843	broad.mit.edu	37	2	198405148	198405148	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198405148A>C	ENST00000323303.4	+	5	596	c.341A>C	c.(340-342)aAa>aCa	p.K114T	MOB4_ENST00000448447.2_Missense_Mutation_p.K93T|MOB4_ENST00000409360.1_Missense_Mutation_p.K82T|MOB4_ENST00000233892.4_Missense_Mutation_p.K82T|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000409916.1_Missense_Mutation_p.K15T|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.K150T	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	114					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										GCAGCTCATAAAACTCCAAAA	0.303																																						ENST00000323303.4																			0											c.(340-342)aAa>aCa		MOB family member 4, phocein							31.0	32.0	32.0					2																	198405148		2201	4290	6491	SO:0001583	missense	25843							g.chr2:198405148A>C	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.341A>C	2.37:g.198405148A>C	ENSP00000315702:p.Lys114Thr					MOB4_ENST00000604458.1_Missense_Mutation_p.K150T|MOB4_ENST00000233892.4_Missense_Mutation_p.K82T|MOB4_ENST00000409360.1_Missense_Mutation_p.K82T|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000448447.2_Missense_Mutation_p.K93T|MOB4_ENST00000409916.1_Missense_Mutation_p.K15T	p.K114T	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2					5	596	+								B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.341A>C	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303749	0.81136	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.86432	0.1761	9	0.87932	D	0	.	15.8317	0.78757	1.0:0.0:0.0:0.0	.	93;114	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	T	82;15;114;93;82	.	ENSP00000233892:K82T	K	+	2	0	PHOCN	198113393	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.248000	0.95456	2.136000	0.66102	0.533000	0.62120	AAA		0.303	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		63	260	0	0	0	1	0	63	260				
HIP1	3092	broad.mit.edu	37	7	75221405	75221405	+	Missense_Mutation	SNP	C	C	A	rs369879797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75221405C>A	ENST00000336926.6	-	4	379	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HIP1_ENST00000434438.2_Missense_Mutation_p.R118I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	118	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAATTCATTTCTGTATCTCAG	0.502			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(352-354)aGa>aTa		huntingtin interacting protein 1							164.0	144.0	151.0					7																	75221405		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75221405C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.353G>T	7.37:g.75221405C>A	ENSP00000336747:p.Arg118Ile					HIP1_ENST00000434438.2_Missense_Mutation_p.R118I	p.R118I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			4	379	-			118			ENTH.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.353G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576197	0.86645	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.32988	1.43;1.43;1.43	6.01	4.89	0.63831	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.040310	0.85682	D	0.000000	T	0.25044	0.0608	L	0.39898	1.24	0.54753	D	0.999987	B	0.16166	0.016	B	0.25759	0.063	T	0.05435	-1.0885	10	0.25751	T	0.34	-20.8002	9.3504	0.38133	0.0:0.0869:0.0:0.9131	.	118	O00291	HIP1_HUMAN	I	118;118;89	ENSP00000336747:R118I;ENSP00000410300:R118I;ENSP00000414280:R89I	ENSP00000336747:R118I	R	-	2	0	HIP1	75059341	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	4.605000	0.61119	1.140000	0.42260	0.650000	0.86243	AGA		0.502	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		90	419	1	0	2.1089e-46	1	2.5903e-46	90	419				
PTPDC1	138639	broad.mit.edu	37	9	96860569	96860569	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860569A>G	ENST00000375360.3	+	7	1899	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Q572R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	520					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCTGCTCACCAGCAAGTGTCT	0.552																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1558-1560)cAg>cGg		protein tyrosine phosphatase domain containing 1							86.0	91.0	89.0					9																	96860569		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860569A>G	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1559A>G	9.37:g.96860569A>G	ENSP00000364509:p.Gln520Arg					PTPDC1_ENST00000288976.3_Missense_Mutation_p.Q572R	p.Q520R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1899	+			520					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.1559A>G	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	5.806	0.333069	0.11013	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.46451	0.87;0.87	6.06	3.62	0.41486	.	0.653390	0.16932	N	0.193629	T	0.27866	0.0686	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.30966	-0.9960	10	0.10111	T	0.7	-4.0139	2.7677	0.05325	0.6194:0.155:0.0776:0.148	.	574;572;574;520	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	R	520;572	ENSP00000364509:Q520R;ENSP00000288976:Q572R	ENSP00000288976:Q572R	Q	+	2	0	PTPDC1	95900390	0.550000	0.26489	0.079000	0.20413	0.606000	0.37113	2.715000	0.47210	0.474000	0.27392	0.533000	0.62120	CAG		0.552	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		14	486	0	0	0	1	0	14	486				
FAM78B	149297	broad.mit.edu	37	1	166039799	166039799	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039799G>A	ENST00000338353.3	-	3	1054	c.465C>T	c.(463-465)agC>agT	p.S155S	FAM78B_ENST00000354422.3_Silent_p.S155S			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GTGGCACATTGCTGTCACTCA	0.522																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(463-465)agC>agT		family with sequence similarity 78, member B							226.0	197.0	206.0					1																	166039799		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039799G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.465C>T	1.37:g.166039799G>A						FAM78B_ENST00000354422.3_Silent_p.S155S	p.S155S			Q5VT40	FA78B_HUMAN			3	1054	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		155					B7Z693	Silent	SNP	ENST00000338353.3	37	c.465C>T	CCDS30931.1																																																																																				0.522	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		179	754	0	0	0	1	0	179	754				
GALNT5	11227	broad.mit.edu	37	2	158115418	158115418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115418G>A	ENST00000259056.4	+	1	1309	c.824G>A	c.(823-825)aGt>aAt	p.S275N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	275				NTS -> AEG (in Ref. 5). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCAATACGAGTCTTCCTTTT	0.423																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(823-825)aGt>aAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							75.0	74.0	74.0					2																	158115418		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115418G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.824G>A	2.37:g.158115418G>A	ENSP00000259056:p.Ser275Asn						p.S275N	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			1	1309	+			275	NTS -> AEG (in Ref. 2).				A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.824G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.666637	0.00765	.	.	ENSG00000136542	ENST00000259056	T	0.55413	0.52	5.66	-3.12	0.05282	.	9.801460	0.00166	N	0.000000	T	0.27027	0.0662	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	10	0.10111	T	0.7	.	6.1131	0.20112	0.529:0.2649:0.2061:0.0	.	275	Q7Z7M9	GALT5_HUMAN	N	275	ENSP00000259056:S275N	ENSP00000259056:S275N	S	+	2	0	GALNT5	157823664	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.862000	0.04263	-0.403000	0.07622	0.655000	0.94253	AGT		0.423	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		38	470	0	0	0	1	0	38	470				
KCNC4	3749	broad.mit.edu	37	1	110766034	110766034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766034C>T	ENST00000369787.3	+	2	1154	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V|KCNC4_ENST00000413138.3_Missense_Mutation_p.A376V	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	376					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCCTGAGGGCCAGCACCAAT	0.617																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1126-1128)gCc>gTc		potassium voltage-gated channel, Shaw-related subfamily, member 4							57.0	48.0	51.0					1																	110766034		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110766034C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1127C>T	1.37:g.110766034C>T	ENSP00000358802:p.Ala376Val					KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V|KCNC4_ENST00000413138.3_Missense_Mutation_p.A376V|KCNC4_ENST00000412512.2_Intron	p.A376V	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	1154	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	376					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1127C>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866427	0.91511	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98732	-5.1;-5.1;-5.1	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.98718	1.0707	10	0.72032	D	0.01	.	18.4936	0.90856	0.0:1.0:0.0:0.0	.	376;376;376	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	V	376	ENSP00000358802:A376V;ENSP00000388029:A376V;ENSP00000393655:A376V	ENSP00000358802:A376V	A	+	2	0	KCNC4	110567557	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.776000	0.85560	2.445000	0.82738	0.462000	0.41574	GCC		0.617	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		33	283	0	0	0	1	0	33	283				
TUBA4A	7277	broad.mit.edu	37	2	220115518	220115518	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220115518C>T	ENST00000248437.4	-	4	1076	c.903G>A	c.(901-903)caG>caA	p.Q301Q	TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q286Q	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	301					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ACTTTACCATCTGGTTGGCAG	0.582																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(856-858)caG>caA		tubulin, alpha 4a							113.0	104.0	107.0					2																	220115518		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115518C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.903G>A	2.37:g.220115518C>T						TUBA4A_ENST00000248437.4_Silent_p.Q301Q|TUBA4A_ENST00000498660.1_5'UTR	p.Q286Q	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1413	-		Renal(207;0.0474)	301					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.858G>A	CCDS2438.1																																																																																				0.582	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		209	542	0	0	0	1	0	209	542				
HIPK2	28996	broad.mit.edu	37	7	139299093	139299093	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139299093C>A	ENST00000406875.3	-	8	2023	c.1929G>T	c.(1927-1929)caG>caT	p.Q643H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	643	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGCACAAATCTGGGCTGTTC	0.587																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1927-1929)caG>caT		homeodomain interacting protein kinase 2							45.0	52.0	50.0					7																	139299093		1961	4144	6105	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139299093C>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1929G>T	7.37:g.139299093C>A	ENSP00000385571:p.Gln643His					HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H	p.Q643H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			8	2023	-	Melanoma(164;0.205)		643			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.1929G>T		.	.	.	.	.	.	.	.	.	.	C	17.32	3.360598	0.61403	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.55760	0.5;0.57;0.61	5.48	3.65	0.41850	.	.	.	.	.	T	0.63319	0.2501	.	.	.	0.45150	D	0.998168	P;D	0.64830	0.855;0.994	P;P	0.62740	0.459;0.906	T	0.59118	-0.7514	8	0.26408	T	0.33	.	11.2298	0.48905	0.0:0.8506:0.0:0.1494	.	643;616	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	643;616;643	ENSP00000385571:Q643H;ENSP00000413724:Q616H;ENSP00000343108:Q643H	ENSP00000343108:Q643H	Q	-	3	2	HIPK2	138949633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.014000	0.57145	0.770000	0.33336	0.563000	0.77884	CAG		0.587	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		17	89	1	0	2.23348e-06	1	2.30073e-06	17	89				
MYT1	4661	broad.mit.edu	37	20	62848447	62848447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62848447G>A	ENST00000328439.1	+	11	2023	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	MYT1_ENST00000536311.1_Silent_p.E553E|MYT1_ENST00000360149.4_Silent_p.E255E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCAGCTCGAGGTCCCTCCAT	0.632																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1657-1659)gaG>gaA		myelin transcription factor 1							83.0	76.0	79.0					20																	62848447		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62848447G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1659G>A	20.37:g.62848447G>A						MYT1_ENST00000360149.4_Silent_p.E255E|MYT1_ENST00000328439.1_Silent_p.E553E	p.E553E			Q01538	MYT1_HUMAN			11	2023	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		553					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1659G>A	CCDS13558.1																																																																																				0.632	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		94	475	0	0	0	1	0	94	475				
ZNF32	7580	broad.mit.edu	37	10	44139576	44139576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139576G>A	ENST00000395797.1	-	3	932	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCACACTGGCCGCACAGAT	0.537																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(742-744)ggC>ggT		zinc finger protein 32							60.0	62.0	61.0					10																	44139576		2203	4300	6503	SO:0001819	synonymous_variant	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139576G>A	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.744C>T	10.37:g.44139576G>A						ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	p.G248G	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	932	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	248					Q92951	Silent	SNP	ENST00000395797.1	37	c.744C>T	CCDS7206.1																																																																																				0.537	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		7	228	0	0	0	1	0	7	228				
TSPYL1	7259	broad.mit.edu	37	6	116600781	116600781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116600781G>A	ENST00000368608.3	-	1	285	c.213C>T	c.(211-213)ccC>ccT	p.P71P	DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	71					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CGGCATCCTGGGGTACGCCCC	0.701																																						ENST00000368608.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11						c.(211-213)ccC>ccT		TSPY-like 1							25.0	29.0	28.0					6																	116600781		2132	4182	6314	SO:0001819	synonymous_variant	7259				nucleosome assembly	nucleolus		g.chr6:116600781G>A	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.213C>T	6.37:g.116600781G>A						DSE_ENST00000540275.1_Intron	p.P71P	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	285	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	71					O75885|Q5TFE6	Silent	SNP	ENST00000368608.3	37	c.213C>T	CCDS34518.1																																																																																				0.701	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			26	348	0	0	0	1	0	26	348				
SMAP2	64744	broad.mit.edu	37	1	40874336	40874336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40874336G>A	ENST00000539317.1	+	3	202	c.9G>A	c.(7-9)gaG>gaA	p.E3E		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	83					regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GCATGCAAGAGATGGGAAATG	0.428																																						ENST00000539317.1																			0				central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(7-9)gaG>gaA		small ArfGAP2							172.0	143.0	153.0					1																	40874336		2203	4300	6503	SO:0001819	synonymous_variant	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40874336G>A	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.9G>A	1.37:g.40874336G>A							p.E3E	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		3	202	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	83					B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	37	c.9G>A	CCDS55593.1																																																																																				0.428	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		18	330	0	0	0	1	0	18	330				
RYR3	6263	broad.mit.edu	37	15	33954523	33954523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954523C>T	ENST00000389232.4	+	35	4862	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1598	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACAAGTACCTCCCCGGCCT	0.582																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4792-4794)Ctc>Ttc		ryanodine receptor 3							86.0	82.0	83.0					15																	33954523		2018	4189	6207	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954523C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4792C>T	15.37:g.33954523C>T	ENSP00000373884:p.Leu1598Phe					RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	p.L1598F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	4862	+		all_lung(180;7.18e-09)	1598			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4792C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567655	0.65651	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.76060	-0.99;-0.99	4.89	3.96	0.45880	.	0.000000	0.64402	D	0.000005	D	0.84633	0.5515	M	0.83012	2.62	0.49213	D	0.999769	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	D	0.85319	0.1083	10	0.87932	D	0	.	8.4807	0.33040	0.0:0.7771:0.0:0.2229	.	1598;1598	Q15413-2;Q15413	.;RYR3_HUMAN	F	1598	ENSP00000373884:L1598F;ENSP00000399610:L1598F	ENSP00000354735:L1598F	L	+	1	0	RYR3	31741815	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.494000	0.35616	1.270000	0.44297	0.650000	0.86243	CTC		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			15	78	0	0	0	1	0	15	78				
MN1	4330	broad.mit.edu	37	22	28196327	28196327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196327C>T	ENST00000302326.4	-	1	1159	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	69					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTGGAAGCCGTAGGGCTCC	0.701			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(205-207)Ggc>Agc		meningioma (disrupted in balanced translocation) 1							29.0	34.0	33.0					22																	28196327		1952	4121	6073	SO:0001583	missense	4330						binding	g.chr22:28196327C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.205G>A	22.37:g.28196327C>T	ENSP00000304956:p.Gly69Ser						p.G69S	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1159	-			69					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.205G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697807	0.88830	.	.	ENSG00000169184	ENST00000302326	T	0.72725	-0.68	4.87	4.87	0.63330	.	0.060842	0.64402	D	0.000004	T	0.75191	0.3816	L	0.29908	0.895	0.53688	D	0.99997	D	0.76494	0.999	D	0.63033	0.91	T	0.78947	-0.2003	10	0.87932	D	0	-15.6058	16.9428	0.86222	0.0:1.0:0.0:0.0	.	69	Q10571	MN1_HUMAN	S	69	ENSP00000304956:G69S	ENSP00000304956:G69S	G	-	1	0	MN1	26526327	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.882000	0.63121	2.400000	0.81607	0.561000	0.74099	GGC		0.701	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		68	287	0	0	0	1	0	68	287				
DHX9	1660	broad.mit.edu	37	1	182844012	182844012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182844012C>T	ENST00000367549.3	+	16	1848	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	580					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGACTGCATTCAGATGACCCA	0.383																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1738-1740)Cag>Tag		DEAH (Asp-Glu-Ala-His) box helicase 9							128.0	132.0	131.0					1																	182844012		1876	4109	5985	SO:0001587	stop_gained	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182844012C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1738C>T	1.37:g.182844012C>T	ENSP00000356520:p.Gln580*						p.Q580*	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			16	1848	+			580					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	37	c.1738C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.829393	0.98513	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.2865	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	580	.	ENSP00000356520:Q580X	Q	+	1	0	DHX9	181110635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.048000	0.76606	2.716000	0.92895	0.650000	0.86243	CAG		0.383	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		138	421	0	0	0	1	0	138	421				
CNP	1267	broad.mit.edu	37	17	40120260	40120260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40120260G>A	ENST00000393892.3	+	2	322	c.178G>A	c.(178-180)Gga>Aga	p.G60R	CNP_ENST00000591072.1_Intron|CNP_ENST00000472031.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.G40R|CNP_ENST00000592446.1_3'UTR|TTC25_ENST00000591658.1_RNA	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	60					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CGGCCTGCCAGGAAGCGGCAA	0.602																																						ENST00000393892.2																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(178-180)Gga>Aga		2',3'-cyclic nucleotide 3' phosphodiesterase							40.0	43.0	42.0					17																	40120260		2136	4229	6365	SO:0001583	missense	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40120260G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.178G>A	17.37:g.40120260G>A	ENSP00000377470:p.Gly60Arg					CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.G40R|CNP_ENST00000592446.1_3'UTR|CNP_ENST00000472031.1_Intron	p.G60R	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	2	322	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	60						Missense_Mutation	SNP	ENST00000393892.3	37	c.178G>A	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	33	5.246472	0.95305	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888;ENST00000441615	T;T;T	0.68479	-0.33;-0.33;-0.33	4.86	4.86	0.63082	Zeta toxin domain (1);	0.171566	0.50627	D	0.000109	D	0.83571	0.5283	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86021	0.1507	10	0.87932	D	0	-26.7928	18.5312	0.90993	0.0:0.0:1.0:0.0	.	60;60;40	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	R	60;60;40;40	ENSP00000377470:G60R;ENSP00000377466:G40R;ENSP00000413104:G40R	ENSP00000309643:G60R	G	+	1	0	CNP	37373786	1.000000	0.71417	0.930000	0.37139	0.989000	0.77384	8.357000	0.90088	2.683000	0.91414	0.555000	0.69702	GGA		0.602	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			26	181	0	0	0	1	0	26	181				
INPP5D	3635	broad.mit.edu	37	2	234085994	234085994	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234085994T>C	ENST00000359570.5	+	20	2035		c.e20+2		INPP5D_ENST00000450745.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site|INPP5D_ENST00000538935.1_Splice_Site			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCTTATGGTGAGTTCAAAC	0.488																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.e20+2		inositol polyphosphate-5-phosphatase, 145kDa							135.0	134.0	134.0					2																	234085994		2028	4194	6222	SO:0001630	splice_region_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234085994T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2035+2T>C	2.37:g.234085994T>C						INPP5D_ENST00000450745.1_Splice_Site|INPP5D_ENST00000538935.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site				Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	20	2035	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)						O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Splice_Site	SNP	ENST00000359570.5	37			.	.	.	.	.	.	.	.	.	.	T	15.64	2.894186	0.52121	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9446	0.71020	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5D	233750733	1.000000	0.71417	0.996000	0.52242	0.414000	0.31173	7.652000	0.83633	1.930000	0.55929	0.374000	0.22700	.		0.488	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	Intron	111	330	0	0	0	1	0	111	330				
AQP12B	653437	broad.mit.edu	37	2	241622183	241622183	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241622183G>T	ENST00000407834.3	-	1	134	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	24						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.A24A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGCCTTGGAGGCCCGCCTGG	0.672																																						ENST00000407834.3																			1	Substitution - coding silent(1)	p.A24A(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13						c.(70-72)gcC>gcA		aquaporin 12B							37.0	44.0	41.0					2																	241622183		2188	4288	6476	SO:0001819	synonymous_variant	653437					integral to membrane	transporter activity	g.chr2:241622183G>T	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.72C>A	2.37:g.241622183G>T							p.A24A	NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	134	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	24					A4QPB9	Silent	SNP	ENST00000407834.3	37	c.72C>A	CCDS46560.1																																																																																				0.672	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			16	379	1	0	1.3612e-06	1	1.40558e-06	16	379				
JAK3	3718	broad.mit.edu	37	19	17937570	17937570	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937570G>A	ENST00000527670.1	-	23	3386	c.3357C>T	c.(3355-3357)caC>caT	p.H1119H	JAK3_ENST00000458235.1_Silent_p.H1119H			P52333	JAK3_HUMAN	Janus kinase 3	1119					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGGACAGGGAGTGGTGTTTGC	0.617		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(3355-3357)caC>caT		Janus kinase 3							179.0	149.0	159.0					19																	17937570		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17937570G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3357C>T	19.37:g.17937570G>A						JAK3_ENST00000527670.1_Silent_p.H1119H	p.H1119H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			24	3456	-			1119					Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.3357C>T	CCDS12366.1																																																																																				0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		140	550	0	0	0	1	0	140	550				
TMEM150A	129303	broad.mit.edu	37	2	85827121	85827121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85827121G>A	ENST00000409668.1	-	5	756	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	TMEM150A_ENST00000334462.5_Missense_Mutation_p.R97C|TMEM150A_ENST00000306353.3_Missense_Mutation_p.R44C			Q86TG1	T150A_HUMAN	transmembrane protein 150A	97					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						TGCCCGTAGCGCAGGAGGCAG	0.652																																						ENST00000409668.1																			0				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						c.(289-291)Cgc>Tgc		transmembrane protein 150A							72.0	63.0	66.0					2																	85827121		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85827121G>A	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.289C>T	2.37:g.85827121G>A	ENSP00000387292:p.Arg97Cys					TMEM150A_ENST00000306353.3_Missense_Mutation_p.R44C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.R97C	p.R97C			Q86TG1	T150A_HUMAN			5	756	-			97					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.289C>T	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195609	0.78902	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668;ENST00000425160	T;T;T	0.51817	0.69;0.69;0.69	5.79	5.79	0.91817	.	0.048755	0.85682	D	0.000000	T	0.72930	0.3522	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.68943	0.629;0.961	T	0.78545	-0.2163	10	0.87932	D	0	-40.4071	12.4743	0.55803	0.0:0.0:0.8329:0.1671	.	44;97	Q86TG1-2;Q86TG1	.;T150A_HUMAN	C	44;97;97;44	ENSP00000302715:R44C;ENSP00000334708:R97C;ENSP00000387292:R97C	ENSP00000302715:R44C	R	-	1	0	TMEM150A	85680632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.736000	0.93811	0.561000	0.74099	CGC		0.652	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		9	327	0	0	0	1	0	9	327				
SOX30	11063	broad.mit.edu	37	5	157065339	157065339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157065339C>T	ENST00000265007.6	-	4	2120	c.1779G>A	c.(1777-1779)caG>caA	p.Q593Q	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Silent_p.Q288Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	593	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAGGGGGCTGGTAGACAT	0.557																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1777-1779)caG>caA		SRY (sex determining region Y)-box 30							71.0	70.0	70.0					5																	157065339		2203	4300	6503	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157065339C>T	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1779G>A	5.37:g.157065339C>T						SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Silent_p.Q288Q	p.Q593Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	2120	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	593			Pro-rich.		O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.1779G>A	CCDS4339.1																																																																																				0.557	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		36	219	0	0	0	1	0	36	219				
PIK3CD	5293	broad.mit.edu	37	1	9780912	9780912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780912C>T	ENST00000377346.4	+	13	1829	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	PIK3CD_ENST00000536656.1_Missense_Mutation_p.A569V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TTCCCGGAGGCGCTAGCCCGG	0.667																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1705-1707)gCg>gTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							42.0	45.0	44.0					1																	9780912		2202	4298	6500	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9780912C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1634C>T	1.37:g.9780912C>T	ENSP00000366563:p.Ala545Val					PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V|PIK3CD_ENST00000377346.4_Missense_Mutation_p.A545V	p.A569V			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	13	1914	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	545					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.1706C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515702	0.27123	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.43	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.237329	0.42172	D	0.000748	T	0.68063	0.2960	M	0.71206	2.165	0.32002	N	0.603162	B;P;P	0.43885	0.069;0.82;0.683	B;B;B	0.43082	0.045;0.336;0.407	T	0.75572	-0.3271	10	0.41790	T	0.15	-16.7881	14.1326	0.65266	0.0:0.927:0.0:0.073	.	544;569;545	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	569;545;569;569;212	ENSP00000446444:A569V;ENSP00000366563:A545V;ENSP00000354410:A569V;ENSP00000443811:A212V	ENSP00000353766:A569V	A	+	2	0	PIK3CD	9703499	1.000000	0.71417	0.929000	0.37066	0.008000	0.06430	3.927000	0.56499	1.299000	0.44798	0.505000	0.49811	GCG		0.667	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		11	80	0	0	0	1	0	11	80				
SEC14L5	9717	broad.mit.edu	37	16	5041991	5041991	+	Silent	SNP	T	T	C	rs373345210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5041991T>C	ENST00000251170.7	+	6	807	c.627T>C	c.(625-627)cgT>cgC	p.R209R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	209						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACGGGCCCCGTAGCACCCTGG	0.697																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(625-627)cgT>cgC		SEC14-like 5 (S. cerevisiae)							11.0	12.0	12.0					16																	5041991		1904	4094	5998	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5041991T>C	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.627T>C	16.37:g.5041991T>C							p.R209R	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			6	807	+			209						Silent	SNP	ENST00000251170.7	37	c.627T>C	CCDS45403.1																																																																																				0.697	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			15	44	0	0	0	1	0	15	44				
SBNO1	55206	broad.mit.edu	37	12	123814975	123814975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123814975C>T	ENST00000602398.1	-	9	1252	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SBNO1_ENST00000420886.2_Silent_p.S375S|SBNO1_ENST00000602750.1_Silent_p.S374S|SBNO1_ENST00000267176.4_Silent_p.S374S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	375					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTTATTTAACGAATGAACCA	0.294																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(1123-1125)tcG>tcA		strawberry notch homolog 1 (Drosophila)							72.0	72.0	72.0					12																	123814975		2198	4300	6498	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123814975C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1125G>A	12.37:g.123814975C>T						SBNO1_ENST00000602398.1_Silent_p.S375S|SBNO1_ENST00000602750.1_Silent_p.S374S|SBNO1_ENST00000267176.4_Silent_p.S374S	p.S375S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	8	1124	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		375					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.1125G>A	CCDS53844.1																																																																																				0.294	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		11	101	0	0	0	1	0	11	101				
SPEN	23013	broad.mit.edu	37	1	16258456	16258456	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16258456C>A	ENST00000375759.3	+	11	5925	c.5721C>A	c.(5719-5721)gtC>gtA	p.V1907V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1907					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAAGGAGCGTCTATGCAACCA	0.512																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(5719-5721)gtC>gtA		spen family transcriptional repressor							75.0	78.0	77.0					1																	16258456		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258456C>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5721C>A	1.37:g.16258456C>A							p.V1907V	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5925	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1907					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.5721C>A	CCDS164.1																																																																																				0.512	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		42	401	1	0	1.96642e-18	1	2.182e-18	42	401				
XPO6	23214	broad.mit.edu	37	16	28167624	28167624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28167624C>T	ENST00000304658.5	-	7	1368	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.A276T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	290					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTAACTGACGCCATCTTTCTG	0.567																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(868-870)Gcg>Acg		exportin 6							67.0	72.0	71.0					16																	28167624		2004	4164	6168	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28167624C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.868G>A	16.37:g.28167624C>T	ENSP00000302790:p.Ala290Thr					XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.A276T	p.A290T	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			7	1368	-			290					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.868G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471401	0.43942	.	.	ENSG00000169180	ENST00000304658	T	0.47177	0.85	5.87	5.87	0.94306	Armadillo-type fold (1);	0.149306	0.64402	D	0.000008	T	0.29716	0.0742	N	0.08118	0	0.46981	D	0.999273	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12243	-1.0555	10	0.15066	T	0.55	-10.5702	18.0718	0.89410	0.0:1.0:0.0:0.0	.	290;290	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	290	ENSP00000302790:A290T	ENSP00000302790:A290T	A	-	1	0	XPO6	28075125	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.049000	0.41288	2.941000	0.99782	0.655000	0.94253	GCG		0.567	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		98	355	0	0	0	1	0	98	355				
SMARCD1	6602	broad.mit.edu	37	12	50483666	50483666	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50483666G>T	ENST00000394963.4	+	7	1169		c.e7-1		SMARCD1_ENST00000381513.4_Splice_Site|SMARCD1_ENST00000548573.1_Splice_Site	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTCTCTGTAGTGGCACAGGA	0.537																																						ENST00000394963.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.e7-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1							114.0	105.0	108.0					12																	50483666		2203	4300	6503	SO:0001630	splice_region_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50483666G>T	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.772-1G>T	12.37:g.50483666G>T						SMARCD1_ENST00000381513.4_Splice_Site|SMARCD1_ENST00000548573.1_Splice_Site		NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN			7	1169	+									Splice_Site	SNP	ENST00000394963.4	37		CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530681	0.85706	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCD1	48769933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	.		0.537	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076	Intron	60	214	1	0	1.31171e-36	1	1.57158e-36	60	214				
CD101	9398	broad.mit.edu	37	1	117568492	117568492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117568492G>A	ENST00000256652.4	+	8	2848	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Silent_p.E930E|RP11-27K13.3_ENST00000421254.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	930					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATCCGATGAGTCACAGCGGA	0.532																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2788-2790)gaG>gaA		CD101 molecule							73.0	67.0	69.0					1																	117568492		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117568492G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2790G>A	1.37:g.117568492G>A						RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Silent_p.E930E	p.E930E	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			8	2848	+			930					Q15856	Silent	SNP	ENST00000256652.4	37	c.2790G>A	CCDS891.1																																																																																				0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		41	228	0	0	0	1	0	41	228				
IBA57	200205	broad.mit.edu	37	1	228363174	228363174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228363174C>T	ENST00000366711.3	+	3	1033	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	IBA57_ENST00000546123.1_Missense_Mutation_p.A151V|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	344					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GTGGCCTTAGCCGCATCTGTG	0.647																																						ENST00000366711.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(1030-1032)gCc>gTc		IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)							73.0	79.0	77.0					1																	228363174		2203	4299	6502	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228363174C>T	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.1031C>T	1.37:g.228363174C>T	ENSP00000355672:p.Ala344Val					IBA57_ENST00000546123.1_Missense_Mutation_p.A151V|IBA57_ENST00000484749.1_3'UTR	p.A344V	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN			3	1033	+			344						Missense_Mutation	SNP	ENST00000366711.3	37	c.1031C>T	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	C	5.257	0.232819	0.09969	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.44482	0.92;0.92	5.29	3.23	0.37069	.	0.565058	0.20093	N	0.099412	T	0.17619	0.0423	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.07481	-1.0770	10	0.29301	T	0.29	-15.7912	3.0063	0.06030	0.2658:0.4689:0.15:0.1153	.	344	Q5T440	CAF17_HUMAN	V	344;151	ENSP00000355672:A344V;ENSP00000437347:A151V	ENSP00000355672:A344V	A	+	2	0	IBA57	226429797	0.000000	0.05858	0.021000	0.16686	0.115000	0.19883	0.293000	0.19029	1.412000	0.46977	0.650000	0.86243	GCC		0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		106	618	0	0	0	1	0	106	618				
SMARCA2	6595	broad.mit.edu	37	9	2119478	2119478	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2119478C>T	ENST00000382203.1	+	26	3914	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	SMARCA2_ENST00000382194.1_Silent_p.D1235D|SMARCA2_ENST00000349721.2_Silent_p.D1235D|SMARCA2_ENST00000357248.2_Silent_p.D1235D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1235					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGTACCGGACGATGAGACTC	0.408																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3703-3705)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							108.0	100.0	103.0					9																	2119478		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2119478C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3705C>T	9.37:g.2119478C>T						SMARCA2_ENST00000349721.2_Silent_p.D1235D|SMARCA2_ENST00000357248.2_Silent_p.D1235D|SMARCA2_ENST00000382194.1_Silent_p.D1235D	p.D1235D			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	26	3914	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1235					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.3705C>T	CCDS34977.1																																																																																				0.408	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		37	228	0	0	0	1	0	37	228				
TAL2	6887	broad.mit.edu	37	9	108424910	108424910	+	Missense_Mutation	SNP	C	C	T	rs201241830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108424910C>T	ENST00000334077.3	+	1	173	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	45	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										TGAAACGCTTCGCCTGGCAAT	0.537			T	TRB@	T-ALL								.|||	1	0.000199681	0.0	0.0	5008	,	,		19605	0.001		0.0	False		,,,				2504	0.0					ENST00000334077.3				Dom	yes		9	9q31	6887	T	T-cell acute lymphocytic leukemia 2			L	TRB@		T-ALL		0											c.(133-135)Cgc>Tgc		T-cell acute lymphocytic leukemia 2							103.0	95.0	98.0					9																	108424910		2203	4300	6503	SO:0001583	missense	6887				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:108424910C>T		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.133C>T	9.37:g.108424910C>T	ENSP00000334547:p.Arg45Cys						p.R45C	NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN			1	173	+			45			Helix-loop-helix motif.		A0AVI7	Missense_Mutation	SNP	ENST00000334077.3	37	c.133C>T	CCDS6767.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.6	4.435289	0.83885	.	.	ENSG00000186051	ENST00000334077	D	0.98280	-4.84	5.52	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98463	1.0597	10	0.87932	D	0	-13.6534	12.6354	0.56681	0.2812:0.7188:0.0:0.0	.	45	Q16559	TAL2_HUMAN	C	45	ENSP00000334547:R45C	ENSP00000334547:R45C	R	+	1	0	TAL2	107464731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.757000	0.94681	0.655000	0.94253	CGC		0.537	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		56	232	0	0	0	1	0	56	232				
LRIG1	26018	broad.mit.edu	37	3	66436706	66436706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66436706C>T	ENST00000273261.3	-	13	2012	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Silent_p.Q520Q	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	496	Ig-like C2-type 1.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGTGATGATCTGTGGCTTCA	0.537																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1558-1560)caG>caA		leucine-rich repeats and immunoglobulin-like domains 1							179.0	178.0	178.0					3																	66436706		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66436706C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1488G>A	3.37:g.66436706C>T						LRIG1_ENST00000273261.3_Silent_p.Q496Q|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.Q520Q			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2163	-		Lung NSC(201;0.0101)	496			Ig-like C2-type 1.|Poly-Ser.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1560G>A	CCDS33783.1																																																																																				0.537	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		173	777	0	0	0	1	0	173	777				
PASD1	139135	broad.mit.edu	37	X	150832667	150832667	+	Missense_Mutation	SNP	C	C	A	rs147926578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150832667C>A	ENST00000370357.4	+	11	1163	c.918C>A	c.(916-918)ttC>ttA	p.F306L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	306						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGAGTTCTCGGTGGATC	0.582																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(916-918)ttC>ttA		PAS domain containing 1							107.0	90.0	96.0					X																	150832667		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150832667C>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.918C>A	X.37:g.150832667C>A	ENSP00000359382:p.Phe306Leu						p.F306L	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			11	1163	+	Acute lymphoblastic leukemia(192;6.56e-05)		306					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.918C>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297625	0.23650	.	.	ENSG00000166049	ENST00000370357	T	0.66815	-0.23	2.65	-5.3	0.02738	.	.	.	.	.	T	0.36331	0.0963	N	0.19112	0.55	0.09310	N	1	P	0.36837	0.571	B	0.29663	0.105	T	0.19647	-1.0299	9	0.27785	T	0.31	.	1.4193	0.02309	0.1607:0.3324:0.3202:0.1867	.	306	Q8IV76	PASD1_HUMAN	L	306	ENSP00000359382:F306L	ENSP00000359382:F306L	F	+	3	2	PASD1	150583323	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-3.997000	0.00317	-2.092000	0.00857	0.529000	0.55759	TTC		0.582	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		89	307	1	0	5.52034e-35	1	6.58082e-35	89	307				
RYR3	6263	broad.mit.edu	37	15	33988633	33988633	+	Silent	SNP	C	C	A	rs200936684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33988633C>A	ENST00000389232.4	+	39	6145	c.6075C>A	c.(6073-6075)cgC>cgA	p.R2025R	RYR3_ENST00000415757.3_Silent_p.R2025R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2025	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCAAATCCGCTCCCTCCTCA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18856	0.0		0.0	False		,,,				2504	0.0					ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6073-6075)cgC>cgA		ryanodine receptor 3							84.0	90.0	88.0					15																	33988633		2118	4241	6359	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33988633C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6075C>A	15.37:g.33988633C>A						RYR3_ENST00000415757.3_Silent_p.R2025R	p.R2025R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	39	6145	+		all_lung(180;7.18e-09)	2025			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6075C>A	CCDS45210.1																																																																																				0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			49	236	1	0	1.23103e-26	1	1.41986e-26	49	236				
HTT	3064	broad.mit.edu	37	4	3240630	3240630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3240630C>T	ENST00000355072.5	+	66	9285	c.9140C>T	c.(9139-9141)gCc>gTc	p.A3047V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3047					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACGCAGAGGGCCCCGGTCGCC	0.642																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(9139-9141)gCc>gTc		huntingtin							27.0	31.0	29.0					4																	3240630		2122	4213	6335	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3240630C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9140C>T	4.37:g.3240630C>T	ENSP00000347184:p.Ala3047Val						p.A3047V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	66	9285	+		all_epithelial(65;0.18)	3047					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.9140C>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340021	0.60963	.	.	ENSG00000197386	ENST00000355072	T	0.68025	-0.3	5.13	2.22	0.28083	.	0.286284	0.38548	N	0.001646	T	0.46639	0.1403	N	0.08118	0	0.19575	N	0.999967	B	0.18013	0.025	B	0.21151	0.033	T	0.38714	-0.9648	10	0.40728	T	0.16	.	15.0088	0.71533	0.0:0.594:0.406:0.0	.	3047	P42858	HD_HUMAN	V	3047	ENSP00000347184:A3047V	ENSP00000347184:A3047V	A	+	2	0	HTT	3210428	0.999000	0.42202	0.018000	0.16275	0.696000	0.40369	4.057000	0.57455	0.523000	0.28482	0.557000	0.71058	GCC		0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		31	95	0	0	0	1	0	31	95				
SYMPK	8189	broad.mit.edu	37	19	46319807	46319807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46319807G>A	ENST00000245934.7	-	25	3531	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1096					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCCAAGATGGTCATGATGGA	0.657																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(3286-3288)aCc>aTc		symplekin							38.0	41.0	40.0					19																	46319807		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46319807G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3287C>T	19.37:g.46319807G>A	ENSP00000245934:p.Thr1096Ile					SYMPK_ENST00000598155.1_5'UTR	p.T1096I	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	25	3531	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1096					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.3287C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655826	0.47467	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.4	4.4	0.53042	.	0.469052	0.22944	N	0.053758	T	0.40979	0.1139	N	0.14661	0.345	0.39075	D	0.960784	B	0.02656	0.0	B	0.10450	0.005	T	0.42865	-0.9426	9	0.66056	D	0.02	.	12.387	0.55338	0.0:0.0:1.0:0.0	.	1096	Q92797	SYMPK_HUMAN	I	1096	.	ENSP00000245934:T1096I	T	-	2	0	SYMPK	51011647	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.164000	0.58190	2.287000	0.76781	0.555000	0.69702	ACC		0.657	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		40	204	0	0	0	1	0	40	204				
PCDHGB7	56099	broad.mit.edu	37	5	140798805	140798805	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140798805A>G	ENST00000398594.2	+	1	1379	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCTGGTCCACGTGCCAGAA	0.572																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1378-1380)cAc>cGc									74.0	87.0	83.0					5																	140798805		2128	4245	6373	SO:0001583	missense	0							g.chr5:140798805A>G	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1379A>G	5.37:g.140798805A>G	ENSP00000381594:p.His460Arg					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.H460R	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1379	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1379A>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	14.31	2.497983	0.44455	.	.	ENSG00000254122	ENST00000398594	T	0.49139	0.79	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	1.371310	0.06276	U	0.696544	T	0.49525	0.1562	N	0.11284	0.12	0.23126	N	0.998253	P;P	0.49783	0.928;0.907	P;P	0.55260	0.772;0.586	T	0.57248	-0.7844	10	0.66056	D	0.02	.	15.0833	0.72130	1.0:0.0:0.0:0.0	.	460;460	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	460	ENSP00000381594:H460R	ENSP00000381594:H460R	H	+	2	0	PCDHGB7	140778989	0.000000	0.05858	0.083000	0.20561	0.702000	0.40608	1.074000	0.30703	2.036000	0.60181	0.402000	0.26972	CAC		0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		73	373	0	0	0	1	0	73	373				
UTP14A	10813	broad.mit.edu	37	X	129060260	129060260	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129060260A>G	ENST00000394422.3	+	14	2016	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S|UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	663					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAGATAAGAATTTGCCAAAT	0.448											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(1987-1989)aAt>aGt		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							80.0	77.0	78.0					X																	129060260		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129060260A>G	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1988A>G	X.37:g.129060260A>G	ENSP00000377944:p.Asn663Ser		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S	p.N663S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			14	2016	+			663					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1988A>G	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031633	0.35797	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	6.08	1.95	0.26073	.	0.752025	0.14031	N	0.346157	T	0.32164	0.0820	M	0.85630	2.765	0.25957	N	0.982674	B;P;B	0.52170	0.151;0.951;0.052	B;P;B	0.54544	0.059;0.755;0.063	T	0.11518	-1.0584	10	0.36615	T	0.2	-7.9233	5.202	0.15269	0.6379:0.0:0.229:0.1331	.	609;611;663	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	S	611;663;609;495	ENSP00000388669:N611S;ENSP00000377944:N663S;ENSP00000360090:N609S;ENSP00000360081:N495S	ENSP00000360081:N495S	N	+	2	0	UTP14A	128887941	0.904000	0.30761	0.994000	0.49952	0.989000	0.77384	1.502000	0.35704	0.346000	0.23899	0.486000	0.48141	AAT		0.448	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		97	264	0	0	0	1	0	97	264				
ZNF732	654254	broad.mit.edu	37	4	266376	266376	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:266376C>T	ENST00000419098.1	-	4	280	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						AATCTTCTATCCCCTGCACTG	0.328																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(268-270)ggG>ggA		zinc finger protein 732							47.0	37.0	40.0					4																	266376		692	1591	2283	SO:0001819	synonymous_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:266376C>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.270G>A	4.37:g.266376C>T							p.G90G	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	280	-			90						Silent	SNP	ENST00000419098.1	37	c.270G>A	CCDS46990.1																																																																																				0.328	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		9	99	0	0	0	1	0	9	99				
FAM65A	79567	broad.mit.edu	37	16	67578667	67578667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578667C>T	ENST00000379312.3	+	16	2936	c.2815C>T	c.(2815-2817)Cga>Tga	p.R939*	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.R954*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	939						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCGGGAAGCCCGAGTACTGGA	0.652																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2860-2862)Cga>Tga		family with sequence similarity 65, member A							47.0	56.0	53.0					16																	67578667		2198	4300	6498	SO:0001587	stop_gained	79567					cytoplasm	binding	g.chr16:67578667C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2815C>T	16.37:g.67578667C>T	ENSP00000368614:p.Arg939*					FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*|FAM65A_ENST00000379312.3_Nonsense_Mutation_p.R939*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*	p.R954*			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	17	3080	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	939					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	ENST00000379312.3	37	c.2860C>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.616036|7.616036	0.98390|0.98390	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|.	.|.	.|.	5.65|5.65	3.66|3.66	0.41972|0.41972	.|.	.|0.283027	.|0.34245	.|N	.|0.004121	T|.	0.35393|.	0.0930|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33369|.	-0.9871|.	3|.	.|0.02654	.|T	.|1	-1.3622|-1.3622	14.7684|14.7684	0.69657|0.69657	0.2766:0.7234:0.0:0.0|0.2766:0.7234:0.0:0.0	.|.	.|.	.|.	.|.	L|X	928|939;935;955;949	.|.	.|ENSP00000042381:R935X	P|R	+|+	2|1	0|2	FAM65A|FAM65A	66136168|66136168	0.995000|0.995000	0.38212|0.38212	0.652000|0.652000	0.29579|0.29579	0.910000|0.910000	0.53928|0.53928	4.112000|4.112000	0.57845|0.57845	0.700000|0.700000	0.31782|0.31782	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		126	513	0	0	0	1	0	126	513				
ERBB2IP	55914	broad.mit.edu	37	5	65371060	65371060	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65371060T>C	ENST00000284037.5	+	23	4352		c.e23+2		ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000511297.1_Splice_Site	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein						basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAACAAGAGGTAAGAATAATC	0.348																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.e23+2		erbb2 interacting protein							68.0	69.0	69.0					5																	65371060		2203	4300	6503	SO:0001630	splice_region_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65371060T>C		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3963+2T>C	5.37:g.65371060T>C						ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site		NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4352	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)						A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Splice_Site	SNP	ENST00000284037.5	37		CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405358	0.62288	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030	.	.	.	5.57	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0104	0.53284	0.1291:0.0:0.0:0.8709	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2IP	65406816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.113000	0.64589	0.528000	0.53228	.		0.348	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	Intron	91	371	0	0	0	1	0	91	371				
ZNF662	389114	broad.mit.edu	37	3	42956202	42956202	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956202A>C	ENST00000541208.1	+	5	1006	c.637A>C	c.(637-639)Act>Cct	p.T213P	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P|ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACACCAGAAAACTCATAATGG	0.378																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(637-639)Act>Cct		zinc finger protein 662							92.0	95.0	94.0					3																	42956202		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956202A>C	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.637A>C	3.37:g.42956202A>C	ENSP00000446208:p.Thr213Pro					ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P|ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.T213P			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1006	+			213					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.637A>C	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	9.854	1.194592	0.22037	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.20598	2.06;2.06;2.06	3.29	0.801	0.18679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24699	0.0599	M	0.62723	1.935	0.23550	N	0.997432	B;B	0.31859	0.332;0.343	B;B	0.39217	0.148;0.294	T	0.31806	-0.9930	9	0.87932	D	0	.	6.2962	0.21087	0.7706:0.0:0.2294:0.0	.	239;213	F8W7S8;Q6ZS27	.;ZN662_HUMAN	P	213;239;213	ENSP00000405047:T213P;ENSP00000329264:T239P;ENSP00000446208:T213P	ENSP00000329264:T239P	T	+	1	0	ZNF662	42931206	0.000000	0.05858	0.314000	0.25224	0.475000	0.33008	0.550000	0.23345	0.062000	0.16340	0.454000	0.30748	ACT		0.378	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		108	437	0	0	0	1	0	108	437				
LRRK1	79705	broad.mit.edu	37	15	101605829	101605829	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101605829C>A	ENST00000388948.3	+	32	5546	c.5187C>A	c.(5185-5187)ccC>ccA	p.P1729P	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1726P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCTGGAGCCCTACATGGCCC	0.622																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5176-5178)ccC>ccA		leucine-rich repeat kinase 1							67.0	79.0	75.0					15																	101605829		2081	4212	6293	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101605829C>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5187C>A	15.37:g.101605829C>A						LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1729P	p.P1726P			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		33	5578	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1729						Silent	SNP	ENST00000388948.3	37	c.5178C>A	CCDS42086.1																																																																																				0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		16	386	1	0	0.000422831	1	0.000428653	16	386				
APOL5	80831	broad.mit.edu	37	22	36124810	36124810	+	Silent	SNP	G	G	A	rs142361344	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36124810G>A	ENST00000249044.2	+	4	1167	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	389					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TGGAGCACCAGCCTAGGCTGG	0.602																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(1165-1167)caG>caA		apolipoprotein L, 5							70.0	67.0	68.0					22																	36124810		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36124810G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1167G>A	22.37:g.36124810G>A							p.Q389Q	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			4	1167	+			389					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.1167G>A	CCDS13920.1																																																																																				0.602	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		67	380	0	0	0	1	0	67	380				
LRRC27	80313	broad.mit.edu	37	10	134188633	134188633	+	Nonsense_Mutation	SNP	C	C	T	rs199929957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188633C>T	ENST00000368614.3	+	11	1585	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.R432*|LRRC27_ENST00000392638.2_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	494										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAGATCGTCGACGGGCGGC	0.468																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1294-1296)Cga>Tga		leucine rich repeat containing 27							69.0	70.0	70.0					10																	134188633		2203	4300	6503	SO:0001587	stop_gained	80313							g.chr10:134188633C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1480C>T	10.37:g.134188633C>T	ENSP00000357603:p.Arg494*					LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.R494*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*	p.R432*			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	10	1294	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	494					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	37	c.1294C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324770	0.60634	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	.	.	.	3.44	-2.22	0.06952	.	3.434310	0.00988	N	0.003486	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.6575	4.1289	0.10139	0.0:0.3457:0.3364:0.3179	.	.	.	.	X	494;494;432;432	.	ENSP00000357599:R432X	R	+	1	2	LRRC27	134038623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.239000	0.08965	-0.487000	0.06735	0.591000	0.81541	CGA		0.468	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		66	273	0	0	0	1	0	66	273				
GRK6	2870	broad.mit.edu	37	5	176859018	176859018	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176859018C>T	ENST00000355472.5	+	3	339	c.171C>T	c.(169-171)tgC>tgT	p.C57C	GRK6_ENST00000355958.5_Silent_p.C57C|GRK6_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	57	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCCTGTGCGAGCGGCAGC	0.657																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(169-171)tgC>tgT		G protein-coupled receptor kinase 6							71.0	75.0	74.0					5																	176859018		2203	4299	6502	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176859018C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.171C>T	5.37:g.176859018C>T						GRK6_ENST00000355958.5_Silent_p.C57C|GRK6_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C	p.C57C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	339	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	57			N-terminal.|RGS.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.171C>T	CCDS34303.1																																																																																				0.657	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		198	627	0	0	0	1	0	198	627				
SMYD4	114826	broad.mit.edu	37	17	1686706	1686706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1686706G>A	ENST00000305513.7	-	9	2252	c.2085C>T	c.(2083-2085)caC>caT	p.H695H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	695							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCACCACGGCGTGCTCTGCCC	0.622																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(2083-2085)caC>caT		SET and MYND domain containing 4							36.0	34.0	35.0					17																	1686706		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1686706G>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2085C>T	17.37:g.1686706G>A							p.H695H	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			9	2252	-			695					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.2085C>T	CCDS11013.1																																																																																				0.622	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		36	149	0	0	0	1	0	36	149				
ZNF768	79724	broad.mit.edu	37	16	30536921	30536921	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536921G>A	ENST00000380412.5	-	2	715	c.540C>T	c.(538-540)ccC>ccT	p.P180P	ZNF768_ENST00000562803.1_Silent_p.P149P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	180					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P180P(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTTTTCCTCGGGGTTCAGAA	0.522																																						ENST00000380412.5																			2	Substitution - coding silent(2)	p.P180P(2)	lung(1)|kidney(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(538-540)ccC>ccT		zinc finger protein 768							110.0	117.0	114.0					16																	30536921		2197	4300	6497	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536921G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.540C>T	16.37:g.30536921G>A						ZNF768_ENST00000562803.1_Silent_p.P149P	p.P180P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	715	-			180					Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.540C>T	CCDS10681.2																																																																																				0.522	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		16	937	0	0	0	1	0	16	937				
C11orf94	143678	broad.mit.edu	37	11	45931662	45931662	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45931662G>A	ENST00000449465.1	-	0	0				PEX16_ENST00000241041.3_Missense_Mutation_p.A340V	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TGGGAGGAACGCTGGTGGCGA	0.642																																						ENST00000241041.3																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(1018-1020)gCg>gTg		peroxisomal biogenesis factor 16							95.0	98.0	97.0					11																	45931662		2203	4299	6502	SO:0001631	upstream_gene_variant	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45931662G>A		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004		11.37:g.45931662G>A	Exception_encountered						p.A340V	NM_004813.2|NM_057174.2	NP_004804.1|NP_476515.1	Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	11	1036	-			0						Missense_Mutation	SNP	ENST00000449465.1	37	c.1019C>T	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791980	0.31685	.	.	ENSG00000121680	ENST00000241041	T	0.24723	1.84	3.84	-1.58	0.08479	.	16.089000	0.00628	N	0.000469	T	0.17238	0.0414	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26121	-1.0112	9	0.87932	D	0	16.0769	1.5518	0.02576	0.1309:0.1354:0.3266:0.4071	.	340	Q9Y5Y5-2	.	V	340	ENSP00000241041:A340V	ENSP00000241041:A340V	A	-	2	0	PEX16	45888238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.805000	0.01737	-0.406000	0.07588	-0.425000	0.05940	GCG		0.642	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		73	328	0	0	0	1	0	73	328				
TCF20	6942	broad.mit.edu	37	22	42607439	42607439	+	Silent	SNP	G	G	A	rs369173064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42607439G>A	ENST00000359486.3	-	1	4009	c.3873C>T	c.(3871-3873)ggC>ggT	p.G1291G	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.G1291G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTATCAGCGCCTTCTTTTG	0.428																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(3871-3873)ggC>ggT		transcription factor 20 (AR1)		G	,	1,4405	2.1+/-5.4	0,1,2202	212.0	191.0	198.0		3873,3873	-4.6	0.0	22		198	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TCF20	NM_005650.1,NM_181492.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1291/1961,1291/1939	42607439	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607439G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3873C>T	22.37:g.42607439G>A						TCF20_ENST00000335626.4_Silent_p.G1291G	p.G1291G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	4009	-			1291					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.3873C>T	CCDS14033.1																																																																																				0.428	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		148	598	0	0	0	1	0	148	598				
HERC2	8924	broad.mit.edu	37	15	28510973	28510973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510973C>T	ENST00000261609.7	-	13	1854	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGGCCCAGCCGGCCGTAGT	0.627																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1744-1746)cgG>cgA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							51.0	48.0	49.0					15																	28510973		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28510973C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1746G>A	15.37:g.28510973C>T							p.R582R	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	13	1854	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	582						Silent	SNP	ENST00000261609.7	37	c.1746G>A	CCDS10021.1																																																																																				0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		56	272	0	0	0	1	0	56	272				
CYP2A13	1553	broad.mit.edu	37	19	41594992	41594992	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41594992C>A	ENST00000330436.3	+	2	339	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	113					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TCTTCAAAGGCTATGGTGAGG	0.632																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(337-339)ggC>ggA		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						44.0	42.0	43.0					19																	41594992		2203	4298	6501	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594992C>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.339C>A	19.37:g.41594992C>A							p.G113G	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			2	339	+			113					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.339C>A	CCDS12571.1																																																																																				0.632	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		56	269	1	0	4.17463e-26	1	4.80398e-26	56	269				
IRX5	10265	broad.mit.edu	37	16	54967479	54967479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54967479G>A	ENST00000394636.4	+	3	1483	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	IRX5_ENST00000560154.1_Silent_p.P162P|IRX5_ENST00000558597.1_Silent_p.P316P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Silent_p.P381P			P78411	IRX5_HUMAN	iroquois homeobox 5	382					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCCCGGCGCCGTCACGCTCGC	0.716																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(1144-1146)ccG>ccA		iroquois homeobox 5							10.0	12.0	11.0					16																	54967479		2165	4241	6406	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967479G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1146G>A	16.37:g.54967479G>A						IRX5_ENST00000560154.1_Silent_p.P162P|IRX5_ENST00000320990.5_Silent_p.P381P|IRX5_ENST00000558597.1_Silent_p.P316P	p.P382P			P78411	IRX5_HUMAN			3	1483	+			382					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.1146G>A	CCDS10751.1																																																																																				0.716	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			26	108	0	0	0	1	0	26	108				
MUC5B	727897	broad.mit.edu	37	11	1251032	1251032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251032C>T	ENST00000529681.1	+	10	1273	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	MUC5B_ENST00000447027.1_Silent_p.S408S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	405					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTGCAGCTCCTGGTACT	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1222-1224)agC>agT		mucin 5B, oligomeric mucus/gel-forming							19.0	22.0	21.0					11																	1251032		2091	4194	6285	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1251032C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1215C>T	11.37:g.1251032C>T						MUC5B_ENST00000529681.1_Silent_p.S405S	p.S408S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	10	1282	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	405					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.1224C>T	CCDS44515.2																																																																																				0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	55	0	0	0	1	0	10	55				
CUX1	1523	broad.mit.edu	37	7	101848408	101848408	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101848408A>G	ENST00000292535.7	+	20	3126	c.3088A>G	c.(3088-3090)Aca>Gca	p.T1030A	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000360264.3_Missense_Mutation_p.T1041A|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.T974A|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1030					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACTCCGTGACATCGCTCCA	0.512																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3121-3123)Aca>Gca		cut-like homeobox 1							127.0	115.0	119.0					7																	101848408		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101848408A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3088A>G	7.37:g.101848408A>G	ENSP00000292535:p.Thr1030Ala					CUX1_ENST00000550008.2_Missense_Mutation_p.T974A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.T1030A	p.T1041A	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			20	3141	+			1030					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3121A>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	7.988	0.752581	0.15778	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.61158	0.15;0.14;0.15;0.14;0.15;0.13	5.71	0.191	0.15130	.	0.545468	0.18875	N	0.128726	T	0.33614	0.0869	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.07868	-1.0750	10	0.12103	T	0.63	-1.6649	5.8183	0.18514	0.5672:0.2374:0.1954:0.0	.	1030;1041	P39880;P39880-3	CUX1_HUMAN;.	A	1041;1030;1008;974;928;872	ENSP00000353401:T1041A;ENSP00000292535:T1030A;ENSP00000446630:T1008A;ENSP00000447373:T974A;ENSP00000450125:T928A;ENSP00000451558:T872A	ENSP00000292535:T1030A	T	+	1	0	CUX1	101635128	1.000000	0.71417	0.973000	0.42090	0.051000	0.14879	1.517000	0.35867	-0.187000	0.10516	0.482000	0.46254	ACA		0.512	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		10	324	0	0	0	1	0	10	324				
TAF6L	10629	broad.mit.edu	37	11	62549675	62549675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549675C>T	ENST00000294168.3	+	8	898	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	233					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GTGCTTGGGGCCCTATGTCCG	0.597																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(697-699)Ccc>Tcc		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							95.0	91.0	92.0					11																	62549675		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62549675C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.697C>T	11.37:g.62549675C>T	ENSP00000294168:p.Pro233Ser					TMEM223_ENST00000527073.1_Intron	p.P233S	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			8	898	+			233					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.697C>T	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087988	0.36855	.	.	ENSG00000162227	ENST00000294168	T	0.68331	-0.32	5.4	5.4	0.78164	.	0.140716	0.49916	D	0.000139	T	0.49795	0.1578	N	0.24115	0.695	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.43147	-0.9409	10	0.30078	T	0.28	-26.0172	9.9712	0.41754	0.0:0.9109:0.0:0.0891	.	233	Q9Y6J9	TAF6L_HUMAN	S	233	ENSP00000294168:P233S	ENSP00000294168:P233S	P	+	1	0	TAF6L	62306251	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.654000	0.54453	2.813000	0.96785	0.561000	0.74099	CCC		0.597	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		101	462	0	0	0	1	0	101	462				
CCDC151	115948	broad.mit.edu	37	19	11534583	11534583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534583C>T	ENST00000356392.4	-	8	1166	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D|CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D|CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	360										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTTGACCTTGCCAAAGATCAC	0.672																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(1078-1080)gGc>gAc		coiled-coil domain containing 151							78.0	84.0	82.0					19																	11534583		2181	4270	6451	SO:0001583	missense	115948							g.chr19:11534583C>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1079G>A	19.37:g.11534583C>T	ENSP00000348757:p.Gly360Asp					CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D|CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D|CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D	p.G360D	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			8	1166	-			360					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.1079G>A	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	6.622	0.483272	0.12581	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.85258	-1.96;-1.96	4.24	1.98	0.26296	.	0.451517	0.22002	N	0.065987	T	0.68851	0.3046	N	0.22421	0.69	0.30711	N	0.749307	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.55964	-0.8057	10	0.14252	T	0.57	-22.3144	5.0199	0.14356	0.0:0.639:0.0:0.361	.	360;360;340	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	D	306;360;339	ENSP00000442987:G306D;ENSP00000348757:G360D	ENSP00000348757:G360D	G	-	2	0	CCDC151	11395583	0.890000	0.30428	0.934000	0.37439	0.953000	0.61014	0.280000	0.18790	0.995000	0.38917	-0.424000	0.05967	GGC		0.672	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		24	555	0	0	0	1	0	24	555				
ZFP64	55734	broad.mit.edu	37	20	50769195	50769195	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50769195G>A	ENST00000216923.4	-	6	1885	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.V458V	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGGCAGCCTGGACGATGGTGT	0.647																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1534-1536)gtC>gtT		ZFP64 zinc finger protein							22.0	25.0	24.0					20																	50769195		2202	4300	6502	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769195G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1536C>T	20.37:g.50769195G>A						ZFP64_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.V458V|ZFP64_ENST00000361387.2_Intron	p.V512V	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1885	-			512					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.1536C>T	CCDS13440.1																																																																																				0.647	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		35	190	0	0	0	1	0	35	190				
ANKRD17	26057	broad.mit.edu	37	4	73944497	73944497	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73944497G>T	ENST00000358602.4	-	31	7386	c.7270C>A	c.(7270-7272)Cca>Aca	p.P2424T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2424					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATAGGGACTGGAACTTTCCTG	0.498																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(7270-7272)Cca>Aca		ankyrin repeat domain 17							125.0	103.0	110.0					4																	73944497		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73944497G>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7270C>A	4.37:g.73944497G>T	ENSP00000351416:p.Pro2424Thr					ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T	p.P2424T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		31	7386	-	Breast(15;0.000295)		2424					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.7270C>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070760	0.76301	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	D;D;D	0.89552	-2.28;-2.29;-2.53	5.9	5.9	0.94986	.	0.090952	0.47455	D	0.000234	D	0.90858	0.7128	L	0.57536	1.79	0.51233	D	0.999918	P;P;P;P	0.44429	0.835;0.835;0.745;0.745	B;P;B;B	0.47645	0.429;0.553;0.247;0.247	D	0.91150	0.4952	10	0.87932	D	0	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	2423;2173;2424;2311	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	2424;1831;2173;2311	ENSP00000351416:P2424T;ENSP00000332265:P2173T;ENSP00000427151:P2311T	ENSP00000332265:P2173T	P	-	1	0	ANKRD17	74163361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.798000	0.96311	0.650000	0.86243	CCA		0.498	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		33	307	1	0	3.11337e-16	1	3.41587e-16	33	307				
SCRIB	23513	broad.mit.edu	37	8	144885613	144885613	+	Silent	SNP	G	G	A	rs536818456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144885613G>A	ENST00000320476.3	-	24	3549	c.3543C>T	c.(3541-3543)ggC>ggT	p.G1181G	SCRIB_ENST00000356994.2_Silent_p.G1181G|SCRIB_ENST00000377533.3_Silent_p.G1100G	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1181	Interaction with ARHGEF7.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAGGGTGTCGCCCACACTGC	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		11261	0.0		0.0	False		,,,				2504	0.001				Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(3541-3543)ggC>ggT		scribbled planar cell polarity protein							20.0	20.0	20.0					8																	144885613		2191	4291	6482	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144885613G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3543C>T	8.37:g.144885613G>A						SCRIB_ENST00000377533.3_Silent_p.G1100G|SCRIB_ENST00000320476.3_Silent_p.G1181G	p.G1181G	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		24	3549	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1181			Interaction with ARHGEF7.|PDZ 4.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.3543C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372995	0.05034	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.82	-3.59	0.04583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2487	0.01978	0.3264:0.2015:0.3352:0.137	.	.	.	.	X	177	.	.	R	-	1	2	SCRIB	144957601	0.000000	0.05858	0.972000	0.41901	0.088000	0.18126	-3.061000	0.00623	-0.478000	0.06823	-0.518000	0.04402	CGA		0.701	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		17	77	0	0	0	1	0	17	77				
JPH3	57338	broad.mit.edu	37	16	87678515	87678515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678515G>A	ENST00000284262.2	+	2	1276	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	345					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ATCCTCGTCGGCGGCAAGCGC	0.677																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1033-1035)gGc>gAc		junctophilin 3							47.0	56.0	53.0					16																	87678515		2197	4300	6497	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678515G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1034G>A	16.37:g.87678515G>A	ENSP00000284262:p.Gly345Asp						p.G345D	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1276	+			345					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.1034G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018483	0.54576	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.70045	-0.45	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	N	0.08118	0	0.26726	N	0.970681	B	0.02656	0.0	B	0.04013	0.001	T	0.19451	-1.0305	10	0.21014	T	0.42	.	16.3368	0.83067	0.0:0.0:1.0:0.0	.	345	Q8WXH2	JPH3_HUMAN	D	208;345	ENSP00000284262:G345D	ENSP00000284262:G345D	G	+	2	0	JPH3	86236016	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	6.520000	0.73773	2.098000	0.63641	0.561000	0.74099	GGC		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			84	302	0	0	0	1	0	84	302				
MROH8	140699	broad.mit.edu	37	20	35738747	35738747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35738747G>A	ENST00000441008.2	-	24	2784	c.2785C>T	c.(2785-2787)Caa>Taa	p.Q929*	MROH8_ENST00000466091.1_5'Flank|MROH8_ENST00000400441.3_Silent_p.C942C|MROH8_ENST00000217333.8_Silent_p.C771C			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	TTTTCCCCTTGCACTTTTTTT	0.403																																						ENST00000441008.2																			0											c.(2785-2787)Caa>Taa		maestro heat-like repeat family member 8							270.0	247.0	254.0					20																	35738747		1862	4108	5970	SO:0001587	stop_gained	140699							g.chr20:35738747G>A	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000441008.2:c.2785C>T	20.37:g.35738747G>A	ENSP00000392144:p.Gln929*					MROH8_ENST00000217333.8_Silent_p.C771C|MROH8_ENST00000400441.3_Silent_p.C942C	p.Q929*							24	2784	-								Q5JYQ6	Nonsense_Mutation	SNP	ENST00000441008.2	37	c.2785C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.899390|6.899390	0.97920|0.97920	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000417458;ENST00000441008	.|.	.|.	.|.	5.6|5.6	2.52|2.52	0.30459|0.30459	.|.	.|.	.|.	.|.	.|.	T|.	0.52419|.	0.1733|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43925|.	-0.9361|.	4|.	.|.	.|.	.|.	-2.5753|-2.5753	5.3703|5.3703	0.16136|0.16136	0.1774:0.1679:0.6548:0.0|0.1774:0.1679:0.6548:0.0	.|.	.|.	.|.	.|.	V|X	969|570;929	.|.	.|.	A|Q	-|-	2|1	0|0	C20orf132|C20orf132	35172161|35172161	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	0.780000|0.780000	0.26760|0.26760	0.816000|0.816000	0.34421|0.34421	0.609000|0.609000	0.83330|0.83330	GCA|CAA		0.403	MROH8-203	KNOWN	basic	protein_coding	protein_coding		NM_152503		102	485	0	0	0	1	0	102	485				
COL5A2	1290	broad.mit.edu	37	2	189914108	189914108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189914108C>T	ENST00000374866.3	-	44	3386	c.3112G>A	c.(3112-3114)Ggc>Agc	p.G1038S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1038					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTGGAGCCTGGGGGCCCC	0.453																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3112-3114)Ggc>Agc		collagen, type V, alpha 2							56.0	54.0	55.0					2																	189914108		2202	4300	6502	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189914108C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3112G>A	2.37:g.189914108C>T	ENSP00000364000:p.Gly1038Ser						p.G1038S	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		44	3386	-			1038					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3112G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505796	0.85282	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99607	-6.27	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000040	D	0.99829	0.9923	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97011	0.9736	9	.	.	.	.	19.8749	0.96865	0.0:1.0:0.0:0.0	.	678;1038	Q5PR22;P05997	.;CO5A2_HUMAN	S	1038;678	ENSP00000364000:G1038S	.	G	-	1	0	COL5A2	189622353	1.000000	0.71417	0.738000	0.30950	0.718000	0.41266	7.376000	0.79658	2.932000	0.99384	0.644000	0.83932	GGC		0.453	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		26	96	0	0	0	1	0	26	96				
IGHA1	3493	broad.mit.edu	37	14	106174790	106174790	+	RNA	SNP	G	G	A	rs371788258		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106174790G>A	ENST00000390547.2	-	0	212							P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										TGGCCGGCAGGGTCAGCTGGC	0.637																																						ENST00000390547.2																			0															G		1,4267		0,1,2133	59.0	74.0	69.0			-1.6	0.1	14		69	0,8500		0,0,4250	no	intergenic				0,1,6383	AA,AG,GG		0.0,0.0234,0.0078			106174790	1,12767	2134	4250	6384			0							g.chr14:106174790G>A	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106174790G>A														0	212	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.637	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		47	222	0	0	0	1	0	47	222				
DOCK8	81704	broad.mit.edu	37	9	421012	421012	+	Missense_Mutation	SNP	C	C	T	rs142093178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:421012C>T	ENST00000453981.1	+	32	4199	c.4087C>T	c.(4087-4089)Cgg>Tgg	p.R1363W	DOCK8_ENST00000469391.1_Missense_Mutation_p.R1263W|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1295W|DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1363					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGTCAAGGCCCGGCTGGAAGA	0.582																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3883-3885)Cgg>Tgg		dedicator of cytokinesis 8		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	86.0	86.0	86.0		3787,3883,4087	-3.0	0.9	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1263/2000,1295/2032,1363/2100	421012	1,13005	2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:421012C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4087C>T	9.37:g.421012C>T	ENSP00000408464:p.Arg1363Trp					DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1363W|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1263W|DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W	p.R1295W	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	32	4199	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1363					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3883C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055129	0.55325	0.0	1.16E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	5.76	-2.97	0.05530	.	0.210418	0.47852	D	0.000205	T	0.05090	0.0136	M	0.74881	2.28	0.34970	D	0.753095	B;B;B	0.16396	0.007;0.017;0.017	B;B;B	0.15870	0.008;0.014;0.008	T	0.40664	-0.9551	10	0.87932	D	0	.	22.6959	0.99975	0.2404:0.7596:0.0:0.0	.	1263;830;1363	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	W	1363;1331;1295;1263;830	ENSP00000408464:R1363W;ENSP00000394888:R1295W;ENSP00000419438:R1263W;ENSP00000371766:R830W	ENSP00000287364:R1331W	R	+	1	2	DOCK8	411012	0.989000	0.36119	0.926000	0.36857	0.860000	0.49131	0.889000	0.28282	-0.423000	0.07394	-0.262000	0.10625	CGG		0.582	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		63	429	0	0	0	1	0	63	429				
GPR173	54328	broad.mit.edu	37	X	53106692	53106692	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53106692C>A	ENST00000332582.4	+	2	1380	c.889C>A	c.(889-891)Ctc>Atc	p.L297I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	297					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCTCTTTCTGCTCCTCTGGTC	0.592																																						ENST00000332582.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(889-891)Ctc>Atc		G protein-coupled receptor 173							120.0	73.0	89.0					X																	53106692		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106692C>A	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.889C>A	X.37:g.53106692C>A	ENSP00000331600:p.Leu297Ile						p.L297I	NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN			2	1380	+			297					B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.889C>A	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713333	0.30413	.	.	ENSG00000184194	ENST00000332582	T	0.37411	1.2	5.03	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.155901	0.41823	D	0.000820	T	0.29588	0.0738	L	0.46157	1.445	0.38960	D	0.958531	B	0.10296	0.003	B	0.18871	0.023	T	0.11743	-1.0575	10	0.23891	T	0.37	-11.5774	10.308	0.43691	0.0:0.6608:0.3392:0.0	.	297	Q9NS66	GP173_HUMAN	I	297	ENSP00000331600:L297I	ENSP00000331600:L297I	L	+	1	0	GPR173	53123417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.113000	0.41902	2.094000	0.63399	0.529000	0.55759	CTC		0.592	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		42	148	1	0	4.32679e-17	1	4.76816e-17	42	148				
RHPN2	85415	broad.mit.edu	37	19	33486990	33486990	+	Silent	SNP	G	G	A	rs142685730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGTGCTGGGCGTACGTGAGCC	0.622													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17949	0.0		0.0	False		,,,				2504	0.0					ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1360-1362)taC>taT		rhophilin, Rho GTPase binding protein 2		G		1,4405	2.1+/-5.4	0,1,2202	83.0	66.0	72.0		1362	0.3	0.2	19	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	RHPN2	NM_033103.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		454/687	33486990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33486990G>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1362C>T	19.37:g.33486990G>A						RHPN2_ENST00000400226.4_Silent_p.Y303Y	p.Y454Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			11	1397	-	Esophageal squamous(110;0.137)		454			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.1362C>T	CCDS12427.1																																																																																				0.622	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		68	355	0	0	0	1	0	68	355				
PRPH2	5961	broad.mit.edu	37	6	42666183	42666183	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42666183C>T	ENST00000230381.5	-	3	1130	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	297					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCAGATTCCTCGGGGTTGG	0.592																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(889-891)gaG>gaA		peripherin 2 (retinal degeneration, slow)							73.0	72.0	72.0					6																	42666183		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42666183C>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.891G>A	6.37:g.42666183C>T							p.E297E	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		3	1130	-	Colorectal(47;0.196)		297					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.891G>A	CCDS4871.1																																																																																				0.592	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		68	278	0	0	0	1	0	68	278				
HNRNPU	3192	broad.mit.edu	37	1	245027598	245027598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245027598C>T	ENST00000283179.9	-	1	175	c.12G>A	c.(10-12)tcG>tcA	p.S4S	RP11-11N7.4_ENST00000610145.1_lincRNA|HNRNPU_ENST00000444376.2_Silent_p.S4S			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	4	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATTAACAGGCGAGGAACTCA	0.602																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(10-12)tcG>tcA		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							24.0	28.0	26.0					1																	245027598		2200	4294	6494	SO:0001819	synonymous_variant	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245027598C>T	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.12G>A	1.37:g.245027598C>T						HNRNPU_ENST00000283179.9_Silent_p.S4S	p.S4S	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		1	246	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		4			Asp/Glu-rich (acidic).		O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	c.12G>A	CCDS41479.1																																																																																				0.602	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		41	163	0	0	0	1	0	41	163				
GPR19	2842	broad.mit.edu	37	12	12815366	12815366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12815366C>A	ENST00000540510.1	-	2	209	c.17G>T	c.(16-18)aGa>aTa	p.R6I	GPR19_ENST00000332427.2_Missense_Mutation_p.R6I			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTTATCCATTCTGTGAGCAAA	0.428																																						ENST00000540510.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(16-18)aGa>aTa		G protein-coupled receptor 19							93.0	91.0	92.0					12																	12815366		2203	4300	6503	SO:0001583	missense	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12815366C>A		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.17G>T	12.37:g.12815366C>A	ENSP00000441832:p.Arg6Ile					GPR19_ENST00000332427.2_Missense_Mutation_p.R6I	p.R6I			Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	209	-		Prostate(47;0.0802)	6					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	c.17G>T	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041348	0.19669	.	.	ENSG00000183150	ENST00000540510;ENST00000332427;ENST00000540796	T;T	0.68624	-0.34;-0.34	5.43	2.44	0.29823	.	0.304358	0.28853	N	0.013925	T	0.45458	0.1343	N	0.14661	0.345	0.41650	D	0.989128	B	0.23735	0.09	B	0.15484	0.013	T	0.40850	-0.9541	10	0.54805	T	0.06	-12.887	9.0393	0.36307	0.0:0.6096:0.2469:0.1435	.	6	Q15760	GPR19_HUMAN	I	6	ENSP00000441832:R6I;ENSP00000333744:R6I	ENSP00000333744:R6I	R	-	2	0	GPR19	12706633	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.121000	0.31283	0.828000	0.34709	-0.150000	0.13652	AGA		0.428	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		89	461	1	0	8.34767e-46	1	1.02437e-45	89	461				
LRP1	4035	broad.mit.edu	37	12	57577289	57577289	+	Silent	SNP	C	C	T	rs560161034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577289C>T	ENST00000243077.3	+	35	6256	c.5790C>T	c.(5788-5790)caC>caT	p.H1930H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1930					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGACTTCCACGCTGGTGAGC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19292	0.001		0.0	False		,,,				2504	0.0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5788-5790)caC>caT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						46.0	42.0	43.0					12																	57577289		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57577289C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5790C>T	12.37:g.57577289C>T							p.H1930H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	35	6256	+			1930					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5790C>T	CCDS8932.1																																																																																				0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		29	132	0	0	0	1	0	29	132				
SLC12A2	6558	broad.mit.edu	37	5	127484510	127484510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127484510A>G	ENST00000262461.2	+	12	2135	c.1946A>G	c.(1945-1947)aAt>aGt	p.N649S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.N649S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	649					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GGGAAAAATAATGAACCTCTT	0.318																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1945-1947)aAt>aGt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						183.0	185.0	184.0					5																	127484510		2203	4299	6502	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127484510A>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1946A>G	5.37:g.127484510A>G	ENSP00000262461:p.Asn649Ser					SLC12A2_ENST00000343225.4_Missense_Mutation_p.N649S	p.N649S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	12	2135	+		all_cancers(142;0.0972)|Prostate(80;0.151)	649					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1946A>G	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357851	0.61403	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98762	-5.12;-5.12	4.8	4.8	0.61643	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.71206	2.165	0.80722	D	1	B;B	0.29378	0.204;0.243	B;B	0.31686	0.082;0.134	D	0.97767	1.0224	10	0.48119	T	0.1	.	14.7822	0.69774	1.0:0.0:0.0:0.0	.	649;649	P55011-3;P55011	.;S12A2_HUMAN	S	649	ENSP00000262461:N649S;ENSP00000340878:N649S	ENSP00000262461:N649S	N	+	2	0	SLC12A2	127512409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.142000	0.66516	0.477000	0.44152	AAT		0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		16	712	0	0	0	1	0	16	712				
COL6A2	1292	broad.mit.edu	37	21	47532275	47532275	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47532275C>T	ENST00000300527.4	+	3	602	c.498C>T	c.(496-498)acC>acT	p.T166T	COL6A2_ENST00000357838.4_Silent_p.T166T|COL6A2_ENST00000310645.5_Silent_p.T166T|COL6A2_ENST00000409416.1_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	166	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCCACGTCACCGGCAGCCCCT	0.701																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(496-498)acC>acT		collagen, type VI, alpha 2							12.0	14.0	13.0					21																	47532275		2141	4192	6333	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532275C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.498C>T	21.37:g.47532275C>T						COL6A2_ENST00000310645.5_Silent_p.T166T|COL6A2_ENST00000357838.4_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T|COL6A2_ENST00000409416.1_Silent_p.T166T	p.T166T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	602	+	Breast(49;0.245)		166			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.498C>T	CCDS13728.1																																																																																				0.701	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			33	124	0	0	0	1	0	33	124				
EML1	2009	broad.mit.edu	37	14	100405613	100405613	+	Silent	SNP	C	C	T	rs542054890	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100405613C>T	ENST00000262233.6	+	21	2410	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	EML1_ENST00000334192.4_Silent_p.G776G|EML1_ENST00000327921.9_Silent_p.G745G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	757	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGTCAACAGGCGACGACTTTG	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.002					ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2269-2271)ggC>ggT		echinoderm microtubule associated protein like 1							128.0	116.0	120.0					14																	100405613		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405613C>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2271C>T	14.37:g.100405613C>T						EML1_ENST00000327921.9_Silent_p.G745G|EML1_ENST00000334192.4_Silent_p.G776G	p.G757G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			21	2410	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	757					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.2271C>T	CCDS32155.1																																																																																				0.522	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		62	251	0	0	0	1	0	62	251				
MAST1	22983	broad.mit.edu	37	19	12963203	12963203	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12963203C>T	ENST00000251472.4	+	10	1110	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MAST1_ENST00000591495.1_Silent_p.L353L	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGACGATCTCTCTGAGGTAA	0.592																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1069-1071)ctC>ctT		microtubule associated serine/threonine kinase 1							91.0	72.0	78.0					19																	12963203		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12963203C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1071C>T	19.37:g.12963203C>T						MAST1_ENST00000591495.1_Silent_p.L353L	p.L357L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			10	1110	+			357						Silent	SNP	ENST00000251472.4	37	c.1071C>T	CCDS32921.1																																																																																				0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		53	271	0	0	0	1	0	53	271				
COL5A1	1289	broad.mit.edu	37	9	137630649	137630649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630649G>T	ENST00000371817.3	+	11	1903	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	497	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCCTGGAGAAAGGGTAAG	0.572																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1489-1491)Gaa>Taa		collagen, type V, alpha 1							75.0	76.0	76.0					9																	137630649		2203	4300	6503	SO:0001587	stop_gained	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137630649G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1489G>T	9.37:g.137630649G>T	ENSP00000360882:p.Glu497*						p.E497*	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	11	1903	+		Myeloproliferative disorder(178;0.0341)	497			Interrupted collagenous region.		Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	37	c.1489G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	43	10.520879	0.99420	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000360882:E497X	E	+	1	0	COL5A1	136770470	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.337000	0.72958	2.166000	0.68216	0.491000	0.48974	GAA		0.572	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		65	382	1	0	1.1794e-34	1	1.40398e-34	65	382				
DSC2	1824	broad.mit.edu	37	18	28669454	28669454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28669454C>A	ENST00000280904.6	-	5	1021	c.578G>T	c.(577-579)gGa>gTa	p.G193V	DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	193	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATACAAGTTTCCAGTGTCTCT	0.403																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(577-579)gGa>gTa		desmocollin 2							113.0	110.0	111.0					18																	28669454		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28669454C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.578G>T	18.37:g.28669454C>A	ENSP00000280904:p.Gly193Val					DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	p.G193V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		5	1021	-			193			Cadherin 1.			Missense_Mutation	SNP	ENST00000280904.6	37	c.578G>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688337	0.88639	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.73152	-0.72;-0.72	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.31697	N	0.007218	D	0.90310	0.6969	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92440	0.5961	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	193;193	Q02487;Q02487-2	DSC2_HUMAN;.	V	193;193;206	ENSP00000251081:G193V;ENSP00000280904:G193V	ENSP00000251081:G193V	G	-	2	0	DSC2	26923452	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.504000	0.53347	2.937000	0.99478	0.650000	0.86243	GGA		0.403	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		66	263	1	0	1.08241e-25	1	1.24348e-25	66	263				
DFNB31	25861	broad.mit.edu	37	9	117185786	117185786	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117185786C>A	ENST00000362057.3	-	7	1602	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D|DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	478					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCCTCTCACCTCAGAGAGGA	0.627																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1432-1434)gaG>gaT		deafness, autosomal recessive 31							57.0	56.0	56.0					9																	117185786		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117185786C>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1434G>T	9.37:g.117185786C>A	ENSP00000354623:p.Glu478Asp					DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D|DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D	p.E478D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			7	1602	-			478					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1434G>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702839	0.48307	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.13089	3.48;3.44;2.62	5.3	2.45	0.29901	.	0.206212	0.42548	N	0.000694	T	0.11922	0.0290	L	0.46947	1.48	0.52501	D	0.999955	B;B;B	0.29590	0.063;0.25;0.174	B;B;B	0.31390	0.129;0.129;0.126	T	0.09164	-1.0687	10	0.49607	T	0.09	-27.4925	6.1806	0.20470	0.1321:0.6567:0.0:0.2112	.	478;478;127	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	D	95;127;478	ENSP00000265134:E95D;ENSP00000363172:E127D;ENSP00000354623:E478D	ENSP00000265134:E95D	E	-	3	2	DFNB31	116225607	0.999000	0.42202	0.993000	0.49108	0.984000	0.73092	0.725000	0.25970	0.240000	0.21263	0.555000	0.69702	GAG		0.627	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		43	369	1	0	1.7489e-18	1	1.94175e-18	43	369				
TIMP4	7079	broad.mit.edu	37	3	12203526	12203526	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12203526C>A	ENST00000287814.4	-	0	0				SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4						central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AAGTGGAAAACCACTACGACT	0.527																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							60.0	62.0	61.0					3																	12203526		2120	4260	6380	SO:0001631	upstream_gene_variant	6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12203526C>A	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763		3.37:g.12203526C>A	Exception_encountered									Q86VA8	Q86VA8_HUMAN			0	1024	+								B2R7K6	RNA	SNP	ENST00000287814.4	37		CCDS2608.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405554	0.25378	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.95	1.93	0.25924	ATP-grasp fold, subdomain 1 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.91612	3.225	0.25300	N	0.989286	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66384	-0.5937	9	0.87932	D	0	-18.0842	10.4452	0.44490	0.0:0.7481:0.0:0.2519	.	284;284	Q92777;Q92777-2	SYN2_HUMAN;.	K	216	.	ENSP00000442512:N216K	N	+	3	2	SYN2	12178526	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.523000	0.22925	0.669000	0.31146	0.655000	0.94253	AAC		0.527	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		31	148	1	0	5.45727e-16	1	5.98072e-16	31	148				
ATP13A4	84239	broad.mit.edu	37	3	193166103	193166103	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166103C>A	ENST00000342695.4	-	18	2366	c.2044G>T	c.(2044-2046)Gac>Tac	p.D682Y	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D663Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	682						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AATATCAGGTCTGATTCTACC	0.413																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2044-2046)Gac>Tac		ATPase type 13A4							106.0	100.0	102.0					3																	193166103		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166103C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2044G>T	3.37:g.193166103C>A	ENSP00000339182:p.Asp682Tyr					ATP13A4_ENST00000392443.3_Missense_Mutation_p.D663Y	p.D682Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2366	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		682					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2044G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271310	0.40194	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.73469	-0.75;-0.75	4.84	2.94	0.34122	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.159265	0.42420	D	0.000704	D	0.88284	0.6395	H	0.95982	3.75	0.80722	D	1	D;D;D	0.65815	0.995;0.993;0.98	D;P;D	0.67900	0.954;0.905;0.943	D	0.87830	0.2644	10	0.59425	D	0.04	-6.681	9.3042	0.37865	0.0:0.8118:0.0:0.1882	.	663;682;682	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	Y	663;682	ENSP00000376238:D663Y;ENSP00000339182:D682Y	ENSP00000339182:D682Y	D	-	1	0	ATP13A4	194648797	0.966000	0.33281	0.982000	0.44146	0.536000	0.34869	1.632000	0.37102	0.492000	0.27815	-0.355000	0.07637	GAC		0.413	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		26	370	1	0	5.77227e-19	1	6.42407e-19	26	370				
CAD	790	broad.mit.edu	37	2	27447894	27447894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27447894G>A	ENST00000403525.1	+	11	1547	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	CAD_ENST00000264705.4_Missense_Mutation_p.R468H			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R468H(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTAATGAACGCCCCGATGGT	0.552																																						ENST00000264705.4																			1	Substitution - Missense(1)	p.R468H(1)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1402-1404)cGc>cAc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						82.0	75.0	77.0					2																	27447894		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447894G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1403G>A	2.37:g.27447894G>A	ENSP00000384510:p.Arg468His					CAD_ENST00000403525.1_Missense_Mutation_p.R468H	p.R468H	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			11	1565	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		468			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1403G>A		.	.	.	.	.	.	.	.	.	.	G	27.0	4.791593	0.90367	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95447	-3.71;-3.71	5.13	5.13	0.70059	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.98423	1.0578	10	0.72032	D	0.01	-1.0777	17.111	0.86674	0.0:0.0:1.0:0.0	.	468;468	F8VPD4;P27708	.;PYR1_HUMAN	H	468	ENSP00000264705:R468H;ENSP00000384510:R468H	ENSP00000264705:R468H	R	+	2	0	CAD	27301398	1.000000	0.71417	0.951000	0.38953	0.816000	0.46133	9.229000	0.95273	2.383000	0.81215	0.462000	0.41574	CGC		0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			45	242	0	0	0	1	0	45	242				
OR11H6	122748	broad.mit.edu	37	14	20692788	20692788	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20692788T>C	ENST00000315519.2	+	1	998	c.920T>C	c.(919-921)aTc>aCc	p.I307T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I307N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AATCCCCTTATCTATAGTCTT	0.408																																						ENST00000315519.2																			1	Substitution - Missense(1)	p.I307N(1)	liver(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(919-921)aTc>aCc		olfactory receptor, family 11, subfamily H, member 6							98.0	101.0	100.0					14																	20692788		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692788T>C		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.920T>C	14.37:g.20692788T>C	ENSP00000319071:p.Ile307Thr						p.I307T	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	998	+	all_cancers(95;0.00108)		307					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.920T>C	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.164991	0.38217	.	.	ENSG00000176219	ENST00000315519	T	0.57273	0.41	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.73410	0.3583	H	0.96916	3.905	0.38505	D	0.948328	P	0.45672	0.864	P	0.48770	0.589	D	0.83968	0.0325	10	0.87932	D	0	.	12.6958	0.57003	0.0:0.0:0.0:1.0	.	307	Q8NGC7	O11H6_HUMAN	T	307	ENSP00000319071:I307T	ENSP00000319071:I307T	I	+	2	0	OR11H6	19762628	1.000000	0.71417	0.995000	0.50966	0.156000	0.22039	7.402000	0.79972	2.094000	0.63399	0.386000	0.25728	ATC		0.408	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			128	471	0	0	0	1	0	128	471				
EXT1	2131	broad.mit.edu	37	8	119122680	119122680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122680G>A	ENST00000378204.2	-	1	1412	c.606C>T	c.(604-606)gaC>gaT	p.D202D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	202					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTCGGTGTAGTCAGGCCAAG	0.458			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(604-606)gaC>gaT		exostosin glycosyltransferase 1							63.0	74.0	70.0					8																	119122680		2202	4300	6502	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122680G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.606C>T	8.37:g.119122680G>A							p.D202D	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1412	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		202					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.606C>T	CCDS6324.1																																																																																				0.458	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		121	556	0	0	0	1	0	121	556				
FASN	2194	broad.mit.edu	37	17	80042511	80042511	+	Missense_Mutation	SNP	G	G	A	rs567629999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80042511G>A	ENST00000306749.2	-	27	4864	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1549					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCGCAGCGAGGAGCAGACCCA	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(4645-4647)tCc>tTc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						35.0	34.0	34.0					17																	80042511		2185	4292	6477	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80042511G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4646C>T	17.37:g.80042511G>A	ENSP00000304592:p.Ser1549Phe						p.S1549F	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		27	4864	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1549					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.4646C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249919	0.80024	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29142	1.58	4.35	4.35	0.52113	Polyketide synthase, enoylreductase (1);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61431	-0.7064	10	0.87932	D	0	-28.1803	16.8449	0.85978	0.0:0.0:1.0:0.0	.	1549	P49327	FAS_HUMAN	F	1549;514	ENSP00000304592:S1549F	ENSP00000304592:S1549F	S	-	2	0	FASN	77635800	1.000000	0.71417	0.913000	0.36048	0.779000	0.44077	9.112000	0.94314	1.964000	0.57103	0.313000	0.20887	TCC		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		8	53	0	0	0	1	0	8	53				
MCM3AP	8888	broad.mit.edu	37	21	47685237	47685237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47685237C>T	ENST00000397708.1	-	13	3486	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1078					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.E1078K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTCCCTACCTCGTCAGAGTAC	0.607																																						ENST00000397708.1																			1	Substitution - Missense(1)	p.E1078K(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(3232-3234)Gag>Aag		minichromosome maintenance complex component 3 associated protein							48.0	43.0	44.0					21																	47685237		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47685237C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.3232G>A	21.37:g.47685237C>T	ENSP00000380820:p.Glu1078Lys					MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K	p.E1078K			O60318	MCM3A_HUMAN			13	3486	-	Breast(49;0.112)		1078					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.3232G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588107	0.03799	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03745	3.82;3.82	5.29	-3.19	0.05171	.	1.031090	0.07574	N	0.919099	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48139	-0.9061	10	0.07030	T	0.85	-0.0616	4.9528	0.14023	0.2381:0.2867:0.0:0.4752	.	1078	O60318	MCM3A_HUMAN	K	1078	ENSP00000380820:E1078K;ENSP00000291688:E1078K	ENSP00000291688:E1078K	E	-	1	0	MCM3AP	46509665	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.207000	0.09384	-0.454000	0.07066	0.655000	0.94253	GAG		0.607	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		46	162	0	0	0	1	0	46	162				
ODF2	4957	broad.mit.edu	37	9	131222946	131222946	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131222946G>A	ENST00000434106.3	+	4	486				ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000604420.1_Intron|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000535026.1_Splice_Site|ODF2_ENST00000393527.3_Splice_Site|ODF2_ENST00000372814.3_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCAGCCAGGTAGGAGCATG	0.557																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.e5+1		outer dense fiber of sperm tails 2							87.0	68.0	74.0					9																	131222946		2203	4300	6503	SO:0001627	intron_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131222946G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.124-275G>A	9.37:g.131222946G>A						ODF2_ENST00000546203.1_Intron|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000535026.1_Splice_Site|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000434106.2_Intron|ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000372791.3_Intron		NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			5	693	+								B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Splice_Site	SNP	ENST00000434106.3	37		CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750841	0.69533	.	.	ENSG00000136811	ENST00000351030;ENST00000303890;ENST00000448249;ENST00000535026;ENST00000421776;ENST00000444119	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.39	0.90479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF2	130262767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.290000	0.72712	2.759000	0.94783	0.561000	0.74099	.		0.557	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			47	157	0	0	0	1	0	47	157				
NLRP7	199713	broad.mit.edu	37	19	55451411	55451411	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451411T>C	ENST00000590030.1	-	3	816	c.776A>G	c.(775-777)aAa>aGa	p.K259R	NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R|NLRP7_ENST00000446217.1_Missense_Mutation_p.K287R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R|NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R|NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R|NLRP7_ENST00000588756.1_Missense_Mutation_p.K259R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	259	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTGGGACTTTCAGCTCATC	0.552																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(859-861)aAa>aGa		NLR family, pyrin domain containing 7							87.0	89.0	88.0					19																	55451411		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451411T>C	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.776A>G	19.37:g.55451411T>C	ENSP00000465520:p.Lys259Arg					NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R|NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R|NLRP7_ENST00000590030.1_Missense_Mutation_p.K259R|NLRP7_ENST00000588756.1_Missense_Mutation_p.K259R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R|NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R	p.K287R			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1262	-			259			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.860A>G	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.611732	0.00835	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	1.76	-2.71	0.05986	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.44095	0.1277	N	0.01250	-0.93	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14023	0.007;0.01;0.01;0.004	T	0.35992	-0.9766	9	0.15066	T	0.55	.	7.2761	0.26286	0.0:0.3325:0.0:0.6675	.	287;259;259;259	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	259;259;259;287	ENSP00000329568:K259R;ENSP00000409137:K259R;ENSP00000339491:K259R;ENSP00000414273:K287R	ENSP00000329568:K259R	K	-	2	0	NLRP7	60143223	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.213000	0.17521	-0.742000	0.04790	-0.609000	0.04063	AAA		0.552	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		115	512	0	0	0	1	0	115	512				
RALGAPA2	57186	broad.mit.edu	37	20	20517328	20517328	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20517328T>G	ENST00000202677.7	-	25	3393	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1129					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTAATGGCCTCATTTACTTC	0.428																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(3385-3387)gAg>gCg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							72.0	75.0	74.0					20																	20517328		1910	4129	6039	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20517328T>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3386A>C	20.37:g.20517328T>G	ENSP00000202677:p.Glu1129Ala						p.E1129A	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			25	3528	-			1129					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3386A>C	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716597	0.15306	.	.	ENSG00000188559	ENST00000202677	D	0.94862	-3.54	5.63	3.17	0.36434	.	0.167881	0.52532	D	0.000075	D	0.86690	0.5993	N	0.25485	0.75	0.36334	D	0.85907	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80204	-0.1479	10	0.08837	T	0.75	.	8.4392	0.32805	0.0:0.0699:0.1307:0.7994	.	967;1129	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	A	1129	ENSP00000202677:E1129A	ENSP00000202677:E1129A	E	-	2	0	RALGAPA2	20465328	0.989000	0.36119	0.128000	0.21923	0.055000	0.15305	2.923000	0.48868	2.150000	0.67090	0.455000	0.32223	GAG		0.428	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		32	121	0	0	0	1	0	32	121				
ADCY5	111	broad.mit.edu	37	3	123008674	123008674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123008674G>A	ENST00000462833.1	-	19	4667	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A810V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1152	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCAAAGTCGGCCAGTGCCTT	0.552																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3454-3456)gCc>gTc		adenylate cyclase 5							164.0	143.0	151.0					3																	123008674		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123008674G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3455C>T	3.37:g.123008674G>A	ENSP00000419361:p.Ala1152Val					ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A810V	p.A1152V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	19	4667	-			1152			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3455C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500461	0.96355	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.25579	1.79;1.79;1.79	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	L	0.39566	1.225	0.80722	D	1	P;D	0.89917	0.752;1.0	P;D	0.79108	0.531;0.992	T	0.04537	-1.0944	10	0.07644	T	0.81	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	1152;810	O95622;B3KWA8	ADCY5_HUMAN;.	V	1152;810;802	ENSP00000419361:A1152V;ENSP00000418537:A810V;ENSP00000308685:A802V	ENSP00000308685:A802V	A	-	2	0	ADCY5	124491364	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	9.650000	0.98490	2.662000	0.90505	0.555000	0.69702	GCC		0.552	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		102	429	0	0	0	1	0	102	429				
CDC42EP1	11135	broad.mit.edu	37	22	37962510	37962510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37962510G>A	ENST00000249014.4	+	2	574	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	52	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CATGCATGTGGGCCGTGGCGG	0.647																																						ENST00000249014.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(154-156)Ggc>Agc		CDC42 effector protein (Rho GTPase binding) 1							38.0	40.0	39.0					22																	37962510		2203	4300	6503	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962510G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.154G>A	22.37:g.37962510G>A	ENSP00000249014:p.Gly52Ser						p.G52S	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			2	574	+	Melanoma(58;0.0574)		52			CRIB.		A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.154G>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690146	0.88735	.	.	ENSG00000128283	ENST00000249014;ENST00000430687;ENST00000415670	D;D;D	0.94092	-3.35;-3.35;-3.35	4.99	4.99	0.66335	PAK-box/P21-Rho-binding (3);	0.070772	0.56097	D	0.000027	D	0.96552	0.8875	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96980	0.9714	10	0.72032	D	0.01	-31.7756	18.6422	0.91399	0.0:0.0:1.0:0.0	.	52	Q00587	BORG5_HUMAN	S	52	ENSP00000249014:G52S;ENSP00000411682:G52S;ENSP00000405006:G52S	ENSP00000249014:G52S	G	+	1	0	CDC42EP1	36292456	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.828000	0.86729	2.465000	0.83290	0.563000	0.77884	GGC		0.647	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		8	206	0	0	0	1	0	8	206				
PFKFB2	5208	broad.mit.edu	37	1	207238421	207238421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207238421G>T	ENST00000367080.3	+	8	672	c.548G>T	c.(547-549)aGa>aTa	p.R183I	PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I|PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	183	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAAAGGAACAGAGAGAACGTG	0.463																																						ENST00000367080.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(547-549)aGa>aTa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2							120.0	107.0	111.0					1																	207238421		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207238421G>T		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.548G>T	1.37:g.207238421G>T	ENSP00000356047:p.Arg183Ile					PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I|PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I	p.R183I	NM_006212.2	NP_006203.2	O60825	F262_HUMAN			8	672	+	Prostate(682;0.19)		183			6-phosphofructo-2-kinase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.548G>T	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267827	0.80469	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.86	5.86	0.93980	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.79475	2.455	0.80722	D	1	B;P;B	0.39576	0.002;0.679;0.005	B;B;B	0.40256	0.005;0.324;0.005	T	0.71899	-0.4453	9	0.56958	D	0.05	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	85;183;183	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	I	85;183;183;150	.	ENSP00000356046:R183I	R	+	2	0	PFKFB2	205305044	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.160000	0.58164	2.777000	0.95525	0.591000	0.81541	AGA		0.463	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			56	255	1	0	1.54886e-18	1	1.72018e-18	56	255				
EPHB3	2049	broad.mit.edu	37	3	184297593	184297593	+	Silent	SNP	C	C	T	rs568698784	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184297593C>T	ENST00000330394.2	+	11	2495	c.2043C>T	c.(2041-2043)agC>agT	p.S681S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACTTCCTAAGCGAGGCCTCCA	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16194	0.0		0.0	False		,,,				2504	0.001					ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2041-2043)agC>agT		EPH receptor B3							72.0	66.0	68.0					3																	184297593		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297593C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2043C>T	3.37:g.184297593C>T						EIF2B5_ENST00000444495.1_Intron	p.S681S	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		11	2495	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		681			Protein kinase.		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.2043C>T	CCDS3268.1																																																																																				0.582	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		82	342	0	0	0	1	0	82	342				
CLGN	1047	broad.mit.edu	37	4	141317309	141317309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141317309G>A	ENST00000325617.5	-	9	1375	c.935C>T	c.(934-936)gCt>gTt	p.A312V	CLGN_ENST00000537281.1_Missense_Mutation_p.A312V|CLGN_ENST00000414773.1_Missense_Mutation_p.A312V	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	312					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAGCCAGCCAGCAGGTTTAAC	0.348																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(934-936)gCt>gTt		calmegin							194.0	187.0	189.0					4																	141317309		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317309G>A	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.935C>T	4.37:g.141317309G>A	ENSP00000326699:p.Ala312Val					CLGN_ENST00000537281.1_Missense_Mutation_p.A312V|CLGN_ENST00000414773.1_Missense_Mutation_p.A312V	p.A312V	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			9	1375	-	all_hematologic(180;0.162)		312					B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.935C>T	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.106850	0.56291	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.50277	0.75;0.75;0.75	5.83	3.32	0.38043	Calreticulin/calnexin, P (2);	0.379589	0.31461	N	0.007609	T	0.30103	0.0754	N	0.17345	0.48	0.28319	N	0.922337	B	0.02656	0.0	B	0.10450	0.005	T	0.23119	-1.0197	10	0.56958	D	0.05	-6.4273	9.1602	0.37019	0.1194:0.0:0.1338:0.7468	.	312	O14967	CLGN_HUMAN	V	312;312;312;229	ENSP00000326699:A312V;ENSP00000392782:A312V;ENSP00000439381:A312V	ENSP00000326699:A312V	A	-	2	0	CLGN	141536759	0.998000	0.40836	0.997000	0.53966	0.939000	0.58152	4.223000	0.58587	1.045000	0.40225	-0.422000	0.05995	GCT		0.348	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		195	754	0	0	0	1	0	195	754				
SETD4	54093	broad.mit.edu	37	21	37416128	37416128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37416128C>A	ENST00000399215.1	-	6	2225	c.853G>T	c.(853-855)Gga>Tga	p.G285*	SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*			Q9NVD3	SETD4_HUMAN	SET domain containing 4	285							methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GAAACAAATCCGTATTCCAGG	0.378																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(853-855)Gga>Tga		SET domain containing 4							117.0	98.0	104.0					21																	37416128		2203	4300	6503	SO:0001587	stop_gained	54093							g.chr21:37416128C>A	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.853G>T	21.37:g.37416128C>A	ENSP00000382163:p.Gly285*					SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*	p.G285*			Q9NVD3	SETD4_HUMAN			6	2225	-			285					B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Nonsense_Mutation	SNP	ENST00000399215.1	37	c.853G>T	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	48	13.959075	0.99772	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.3083	19.7767	0.96398	0.0:1.0:0.0:0.0	.	.	.	.	X	285;261;285;261;285;261;285	.	ENSP00000329189:G285X	G	-	1	0	SETD4	36337998	1.000000	0.71417	0.821000	0.32701	0.067000	0.16453	6.948000	0.75965	2.751000	0.94390	0.555000	0.69702	GGA		0.378	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		17	211	1	0	1.5739e-10	1	1.67034e-10	17	211				
NOTCH3	4854	broad.mit.edu	37	19	15295262	15295262	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15295262C>A	ENST00000263388.2	-	16	2486		c.e16-1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATCGTGGGCCTGGGGGTAGG	0.622																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93	GRCh37	CS063353	NOTCH3	S		c.e16-1		notch 3							49.0	45.0	46.0					19																	15295262		2203	4300	6503	SO:0001630	splice_region_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15295262C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2411-1G>T	19.37:g.15295262C>A								NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		16	2486	-								Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	37		CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578469	0.28180	.	.	ENSG00000074181	ENST00000263388	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0482	0.47872	0.0:0.9138:0.0:0.0862	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15156262	1.000000	0.71417	0.749000	0.31150	0.125000	0.20455	6.577000	0.74027	2.420000	0.82092	0.655000	0.94253	.		0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Intron	35	205	1	0	1.21669e-08	1	1.27369e-08	35	205				
C19orf40	91442	broad.mit.edu	37	19	33464384	33464384	+	Silent	SNP	G	G	A	rs146261594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33464384G>A	ENST00000588258.1	+	3	269	c.159G>A	c.(157-159)tcG>tcA	p.S53S	C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590179.1_Intron|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590281.1_Silent_p.S53S|CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	53					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TTTATCTGTCGAACAGATGCT	0.403								Direct reversal of damage																														ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(157-159)tcG>tcA	Direct reversal of damage	chromosome 19 open reading frame 40		G		0,4406		0,0,2203	164.0	154.0	157.0		159	-9.8	0.0	19	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C19orf40	NM_152266.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		53/216	33464384	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464384G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.159G>A	19.37:g.33464384G>A						C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590281.1_Silent_p.S53S	p.S53S	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN			3	269	+	Esophageal squamous(110;0.137)		53					B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.159G>A	CCDS12426.1																																																																																				0.403	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		22	825	0	0	0	1	0	22	825				
SLC5A2	6524	broad.mit.edu	37	16	31499495	31499495	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31499495G>T	ENST00000330498.3	+	8	1040		c.e8+1		AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2						carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CTGTACCCAGGTAACATCCCT	0.627																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.e8+1		solute carrier family 5 (sodium/glucose cotransporter), member 2							113.0	110.0	111.0					16																	31499495		2197	4300	6497	SO:0001630	splice_region_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499495G>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1021+1G>T	16.37:g.31499495G>T						AC026471.6_ENST00000565137.1_RNA		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			8	1040	+								A2RRD2	Splice_Site	SNP	ENST00000330498.3	37		CCDS10714.1	.	.	.	.	.	.	.	.	.	.	g	11.58	1.681357	0.29872	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9502	0.64111	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A2	31406996	1.000000	0.71417	0.940000	0.37924	0.083000	0.17756	9.409000	0.97331	2.136000	0.66102	0.457000	0.33378	.		0.627	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2		Intron	160	756	1	0	1.21316e-79	1	1.55083e-79	160	756				
TLDC1	57707	broad.mit.edu	37	16	84513633	84513633	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84513633C>A	ENST00000343629.6	-	8	1440		c.e8-1		TLDC1_ENST00000535580.1_Splice_Site	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1							lysosomal membrane (GO:0005765)											TGCCCTTGGCCTTGAGAAGAG	0.597																																						ENST00000343629.6																			0											c.e8-1		TBC/LysM-associated domain containing 1							50.0	41.0	44.0					16																	84513633		2200	4300	6500	SO:0001630	splice_region_variant	57707							g.chr16:84513633C>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1258-1G>T	16.37:g.84513633C>A						TLDC1_ENST00000535580.1_Splice_Site		NM_020947.3	NP_065998.3					8	1440	-								Q8IZ64|Q9HCG3|Q9NTE8	Splice_Site	SNP	ENST00000343629.6	37		CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853256	0.71719	.	.	ENSG00000140950	ENST00000343629;ENST00000545792;ENST00000535580	.	.	.	4.75	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9405	0.64052	0.1534:0.8466:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1609	83071134	0.998000	0.40836	0.484000	0.27391	0.649000	0.38597	4.493000	0.60341	1.260000	0.44134	0.655000	0.94253	.		0.597	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947	Intron	36	115	1	0	1.04594e-18	1	1.16214e-18	36	115				
ABCB5	340273	broad.mit.edu	37	7	20683249	20683249	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20683249T>C	ENST00000404938.2	+	7	1324	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	224	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CGGCAGCATGTTCTAGGGTAA	0.443																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(670-672)tgT>tgC		ATP-binding cassette, sub-family B (MDR/TAP), member 5							82.0	70.0	74.0					7																	20683249		1568	3582	5150	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20683249T>C	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.672T>C	7.37:g.20683249T>C							p.C224C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			7	1324	+			410		K -> R (in dbSNP:rs13222448).			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.672T>C	CCDS55090.1																																																																																				0.443	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		19	183	0	0	0	1	0	19	183				
OR6M1	390261	broad.mit.edu	37	11	123676536	123676536	+	Missense_Mutation	SNP	G	G	T	rs141670886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676536G>T	ENST00000309154.2	-	1	559	c.522C>A	c.(520-522)ttC>ttA	p.F174L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTCACAGAAGAAATGATTAA	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		22215	0.001		0.0	False		,,,				2504	0.0					ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(520-522)ttC>ttA		olfactory receptor, family 6, subfamily M, member 1							66.0	65.0	65.0					11																	123676536		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676536G>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.522C>A	11.37:g.123676536G>T	ENSP00000311038:p.Phe174Leu						p.F174L	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	559	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	174					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.522C>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.334129	0.41297	.	.	ENSG00000196099	ENST00000309154	T	0.00346	8.01	3.58	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	U	0.004472	T	0.00637	0.0021	M	0.83118	2.625	0.20563	N	0.999886	D	0.89917	1.0	D	0.80764	0.994	T	0.15780	-1.0425	10	0.87932	D	0	.	10.1732	0.42922	0.4371:0.0:0.5629:0.0	.	174	Q8NGM8	OR6M1_HUMAN	L	174	ENSP00000311038:F174L	ENSP00000311038:F174L	F	-	3	2	OR6M1	123181746	0.000000	0.05858	0.285000	0.24819	0.682000	0.39822	-0.574000	0.05868	-0.616000	0.05671	-1.149000	0.01842	TTC		0.463	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		64	253	1	0	1.98135e-44	1	2.42465e-44	64	253				
GPA33	10223	broad.mit.edu	37	1	167023611	167023611	+	Missense_Mutation	SNP	C	C	A	rs146470813	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167023611C>A	ENST00000367868.3	-	7	1263	c.920G>T	c.(919-921)aGg>aTg	p.R307M	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	307						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCCAGTGCTCCTCTGCTCTTC	0.612																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(919-921)aGg>aTg		glycoprotein A33 (transmembrane)							195.0	135.0	155.0					1																	167023611		2203	4300	6503	SO:0001583	missense	10223					integral to plasma membrane	receptor activity	g.chr1:167023611C>A	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.920G>T	1.37:g.167023611C>A	ENSP00000356842:p.Arg307Met					GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	p.R307M	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			7	1263	-			307					Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.920G>T	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505824	0.44558	.	.	ENSG00000143167	ENST00000367868	T	0.77877	-1.13	3.49	2.44	0.29823	.	0.451921	0.20846	N	0.084608	T	0.63558	0.2521	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.54944	-0.8217	10	0.48119	T	0.1	.	7.9319	0.29907	0.0:0.7445:0.2555:0.0	.	307	Q99795	GPA33_HUMAN	M	307	ENSP00000356842:R307M	ENSP00000356842:R307M	R	-	2	0	GPA33	165290235	0.000000	0.05858	0.013000	0.15412	0.070000	0.16714	-0.038000	0.12144	1.889000	0.54706	0.591000	0.81541	AGG		0.612	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		169	448	1	0	1.41736e-90	1	1.81971e-90	169	448				
MYOF	26509	broad.mit.edu	37	10	95082866	95082866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95082866C>T	ENST00000359263.4	-	48	5424	c.5425G>A	c.(5425-5427)Gga>Aga	p.G1809R	MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R|MYOF_ENST00000485212.1_5'Flank|MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R|MYOF_ENST00000371501.4_Missense_Mutation_p.G1809R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1809					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCCTCTCCTGTGATGCTT	0.443																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5425-5427)Gga>Aga		myoferlin							300.0	282.0	288.0					10																	95082866		1969	4162	6131	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95082866C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5425G>A	10.37:g.95082866C>T	ENSP00000352208:p.Gly1809Arg					MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R|MYOF_ENST00000359263.4_Missense_Mutation_p.G1809R	p.G1809R			Q9NZM1	MYOF_HUMAN			48	5547	-			1809					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.5425G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346743	0.95807	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-1.89	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047975	0.85682	N	0.000000	D	0.94466	0.8219	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94138	0.7394	10	0.51188	T	0.08	-18.5395	19.2909	0.94098	0.0:1.0:0.0:0.0	.	1796;1809	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1796;1809;1809;1799	ENSP00000351094:G1796R;ENSP00000352208:G1809R;ENSP00000360556:G1809R;ENSP00000360557:G1799R	ENSP00000351094:G1796R	G	-	1	0	MYOF	95072856	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.651000	0.83577	2.797000	0.96272	0.563000	0.77884	GGA		0.443	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		126	765	0	0	0	1	0	126	765				
SBNO2	22904	broad.mit.edu	37	19	1119096	1119096	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1119096G>T	ENST00000361757.3	-	14	1678	c.1441C>A	c.(1441-1443)Ctc>Atc	p.L481I	SBNO2_ENST00000587024.1_Missense_Mutation_p.L481I|SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	481					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGCTGAGCTGGCGTGCG	0.672																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1441-1443)Ctc>Atc		strawberry notch homolog 2 (Drosophila)							34.0	43.0	40.0					19																	1119096		2196	4291	6487	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1119096G>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1441C>A	19.37:g.1119096G>T	ENSP00000354733:p.Leu481Ile					SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I|SBNO2_ENST00000587024.1_Missense_Mutation_p.L481I	p.L481I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1678	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	481					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.1441C>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903094	0.92035	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.88842	2.985	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.982	D	0.87589	0.2489	9	0.72032	D	0.01	-29.7548	15.375	0.74598	0.0:0.0:1.0:0.0	.	481;481;424	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	I	481;424;505	.	ENSP00000250872:L505I	L	-	1	0	SBNO2	1070096	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.421000	0.97455	2.160000	0.67779	0.462000	0.41574	CTC		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		23	63	1	0	2.21704e-12	1	2.37967e-12	23	63				
ITPR2	3709	broad.mit.edu	37	12	26809444	26809444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26809444G>A	ENST00000381340.3	-	19	2646	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGATACTGGCGATCCAAGCAC	0.448																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2230-2232)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor, type 2							68.0	70.0	69.0					12																	26809444		1998	4176	6174	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26809444G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2230C>T	12.37:g.26809444G>A	ENSP00000370744:p.Arg744Cys						p.R744C	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			19	2646	-	Colorectal(261;0.0847)		744					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2230C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452183	0.84209	.	.	ENSG00000123104	ENST00000381340	D	0.95690	-3.78	4.62	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97990	1.0354	10	0.87932	D	0	.	14.7522	0.69533	0.0:0.0:0.8553:0.1447	.	744	Q14571	ITPR2_HUMAN	C	744	ENSP00000370744:R744C	ENSP00000370744:R744C	R	-	1	0	ITPR2	26700711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.546000	0.85860	0.655000	0.94253	CGC		0.448	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		23	249	0	0	0	1	0	23	249				
USP14	9097	broad.mit.edu	37	18	163369	163369	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:163369A>G	ENST00000261601.7	+	2	169	c.78A>G	c.(76-78)ccA>ccG	p.P26P	USP14_ENST00000383589.2_Silent_p.P26P|USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	26	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGAACCTCCAATGGTATTCA	0.373																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(76-78)ccA>ccG		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							68.0	68.0	68.0					18																	163369		2203	4300	6503	SO:0001819	synonymous_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:163369A>G	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.78A>G	18.37:g.163369A>G						USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000383589.2_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P	p.P26P	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			2	169	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	26			Ubiquitin-like.		J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.78A>G	CCDS32780.1																																																																																				0.373	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		49	181	0	0	0	1	0	49	181				
INSR	3643	broad.mit.edu	37	19	7117408	7117408	+	Missense_Mutation	SNP	G	G	A	rs371841833		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7117408G>A	ENST00000302850.5	-	22	3950	c.3808C>T	c.(3808-3810)Cgc>Tgc	p.R1270C	INSR_ENST00000341500.5_Missense_Mutation_p.R1258C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CAGCACATGCGCATGAGGTCA	0.607																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(3772-3774)Cgc>Tgc		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	82.0	71.0	75.0		3808,3772	4.1	1.0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	INSR	NM_000208.2,NM_001079817.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1270/1383,1258/1371	7117408	1,13005	2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7117408G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3808C>T	19.37:g.7117408G>A	ENSP00000303830:p.Arg1270Cys					INSR_ENST00000302850.5_Missense_Mutation_p.R1270C	p.R1258C	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			21	3811	-			1270			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3772C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249741	0.59212	0.0	1.16E-4	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83163	-1.69;-1.69	5.14	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.618783	0.13790	N	0.362574	T	0.77631	0.4159	L	0.50993	1.605	0.54753	D	0.999989	B;P	0.34522	0.401;0.455	B;B	0.27170	0.075;0.077	T	0.77289	-0.2643	10	0.66056	D	0.02	.	12.7767	0.57453	0.0:0.0:0.835:0.165	.	1258;1270	P06213-2;P06213	.;INSR_HUMAN	C	1270;1258	ENSP00000303830:R1270C;ENSP00000342838:R1258C	ENSP00000303830:R1270C	R	-	1	0	INSR	7068408	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	5.099000	0.64554	1.361000	0.45981	0.563000	0.77884	CGC		0.607	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			70	251	0	0	0	1	0	70	251				
ZNF619	285267	broad.mit.edu	37	3	40528333	40528333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528333C>T	ENST00000314686.5	+	6	689	c.284C>T	c.(283-285)gCa>gTa	p.A95V	ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000447116.2_Missense_Mutation_p.A151V			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAAAAACTGCACAGCTAAAC	0.418																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(451-453)gCa>gTa		zinc finger protein 619							57.0	62.0	61.0					3																	40528333		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40528333C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.284C>T	3.37:g.40528333C>T	ENSP00000322529:p.Ala95Val					ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000314686.5_Missense_Mutation_p.A95V|ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V	p.A151V	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	759	+			151					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.452C>T		.	.	.	.	.	.	.	.	.	.	C	10.29	1.309264	0.23821	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.14516	3.31;3.43;3.61;3.38;2.5;3.43;3.61	2.87	1.86	0.25419	.	.	.	.	.	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.007;0.012;0.012	B;B;B;B;B;B	0.12156	0.004;0.004;0.004;0.004;0.007;0.007	T	0.25606	-1.0127	9	0.45353	T	0.12	.	3.0755	0.06245	0.2657:0.5829:0.0:0.1513	.	67;111;151;53;102;95	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	V	95;151;111;67;102;151;111	ENSP00000322529:A95V;ENSP00000411132:A151V;ENSP00000398024:A111V;ENSP00000397232:A67V;ENSP00000428004:A102V;ENSP00000430705:A151V;ENSP00000388710:A111V	ENSP00000322529:A95V	A	+	2	0	ZNF619	40503337	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-1.304000	0.02741	1.622000	0.50330	0.563000	0.77884	GCA		0.418	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		48	293	0	0	0	1	0	48	293				
CLEC14A	161198	broad.mit.edu	37	14	38724527	38724527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724527C>T	ENST00000342213.2	-	1	1047	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	234						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTTGTCCCAGCGAGCGCCGAT	0.627																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(700-702)cGc>cAc		C-type lectin domain family 14, member A							109.0	118.0	115.0					14																	38724527		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724527C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.701G>A	14.37:g.38724527C>T	ENSP00000353013:p.Arg234His						p.R234H	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1047	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		234					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.701G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984154	0.02180	.	.	ENSG00000176435	ENST00000342213	T	0.74632	-0.86	4.02	-3.59	0.04583	.	.	.	.	.	T	0.46795	0.1411	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35968	-0.9767	9	0.09338	T	0.73	-5.413	7.5425	0.27746	0.0:0.2669:0.1305:0.6025	.	234	Q86T13	CLC14_HUMAN	H	234	ENSP00000353013:R234H	ENSP00000353013:R234H	R	-	2	0	CLEC14A	37794278	0.072000	0.21174	0.026000	0.17262	0.011000	0.07611	-0.732000	0.04904	-0.835000	0.04234	-0.216000	0.12614	CGC		0.627	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		304	1115	0	0	0	1	0	304	1115				
CRNN	49860	broad.mit.edu	37	1	152383288	152383288	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152383288G>A	ENST00000271835.3	-	3	332	c.270C>T	c.(268-270)agC>agT	p.S90S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	90					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTCGCTCAGTGTCT	0.562																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(268-270)agC>agT		cornulin							96.0	107.0	103.0					1																	152383288		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383288G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.270C>T	1.37:g.152383288G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.S90S	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	332	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		90					B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.270C>T	CCDS1010.1																																																																																				0.562	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		169	1182	0	0	0	1	0	169	1182				
DGKE	8526	broad.mit.edu	37	17	54939214	54939214	+	Silent	SNP	C	C	T	rs202084326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54939214C>T	ENST00000284061.3	+	10	1527	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	449					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTCTGAACATCGGATACTGGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		17460	0.0		0.001	False		,,,				2504	0.0					ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1345-1347)atC>atT		diacylglycerol kinase, epsilon 64kDa							170.0	171.0	171.0					17																	54939214		2203	4300	6503	SO:0001819	synonymous_variant	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54939214C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1347C>T	17.37:g.54939214C>T							p.I449I	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			10	1527	+	Breast(9;3.59e-07)		449					Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	37	c.1347C>T	CCDS11590.1																																																																																				0.458	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		167	702	0	0	0	1	0	167	702				
RETNLB	84666	broad.mit.edu	37	3	108474713	108474713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474713C>T	ENST00000295755.6	-	3	446	c.248G>A	c.(247-249)gGt>gAt	p.G83D	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	83					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						ATCCCACGAACCACAGCCATA	0.577																																						ENST00000295755.6																			0				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(247-249)gGt>gAt		resistin like beta							86.0	80.0	82.0					3																	108474713		2203	4300	6503	SO:0001583	missense	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108474713C>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.248G>A	3.37:g.108474713C>T	ENSP00000295755:p.Gly83Asp					RETNLB_ENST00000482939.1_Intron	p.G83D	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN			3	446	-			83					Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	c.248G>A	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177731	0.57692	.	.	ENSG00000163515	ENST00000295755	T	0.69561	-0.41	4.14	4.14	0.48551	.	0.000000	0.47455	D	0.000233	T	0.80470	0.4629	M	0.76170	2.325	0.41702	D	0.989409	D	0.89917	1.0	D	0.97110	1.0	D	0.83644	0.0152	10	0.87932	D	0	-12.9978	13.9194	0.63921	0.0:1.0:0.0:0.0	.	83	Q9BQ08	RETNB_HUMAN	D	83	ENSP00000295755:G83D	ENSP00000295755:G83D	G	-	2	0	RETNLB	109957403	1.000000	0.71417	0.952000	0.39060	0.381000	0.30169	3.772000	0.55325	2.128000	0.65567	0.655000	0.94253	GGT		0.577	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			10	397	0	0	0	1	0	10	397				
SNX15	29907	broad.mit.edu	37	11	64803116	64803116	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64803116C>T	ENST00000377244.3	+	6	775	c.645C>T	c.(643-645)ttC>ttT	p.F215F	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Silent_p.F215F	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	215					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTGCCCTCTTCGACCCCTTCT	0.647																																					Esophageal Squamous(56;269 1304 3324 8253)	ENST00000377244.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(643-645)ttC>ttT		sorting nexin 15							69.0	70.0	69.0					11																	64803116		2201	4297	6498	SO:0001819	synonymous_variant	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64803116C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.645C>T	11.37:g.64803116C>T						SNX15_ENST00000301886.3_3'UTR	p.F215F	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN			6	775	+			215					E5KQS6|Q9NRS5	Silent	SNP	ENST00000377244.3	37	c.645C>T	CCDS8089.1																																																																																				0.647	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			119	482	0	0	0	1	0	119	482				
GAP43	2596	broad.mit.edu	37	3	115395064	115395064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395064G>A	ENST00000305124.6	+	2	601	c.235G>A	c.(235-237)Gag>Aag	p.E79K	GAP43_ENST00000393780.3_Missense_Mutation_p.E115K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	79					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E79Q(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CGATGGGGTGGAGAAGAAGGG	0.537																																						ENST00000393780.3																			1	Substitution - Missense(1)	p.E79Q(1)	upper_aerodigestive_tract(1)	endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(343-345)Gag>Aag		growth associated protein 43							81.0	78.0	79.0					3																	115395064		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395064G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.235G>A	3.37:g.115395064G>A	ENSP00000305010:p.Glu79Lys					GAP43_ENST00000305124.6_Missense_Mutation_p.E79K	p.E115K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	811	+			79					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.343G>A	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602679	0.46423	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60672	0.17;0.17	4.62	4.62	0.57501	Neuromodulin (GAP-43), C-terminal (1);	0.205951	0.42548	D	0.000698	T	0.54481	0.1861	M	0.63843	1.955	0.39176	D	0.962681	B;B	0.31153	0.31;0.065	B;B	0.32465	0.146;0.033	T	0.60667	-0.7218	10	0.52906	T	0.07	-7.7158	11.4995	0.50428	0.0825:0.0:0.9175:0.0	.	115;79	A8K0Y4;P17677	.;NEUM_HUMAN	K	79;115	ENSP00000305010:E79K;ENSP00000377372:E115K	ENSP00000305010:E79K	E	+	1	0	GAP43	116877754	0.987000	0.35691	0.830000	0.32933	0.857000	0.48899	3.281000	0.51685	2.547000	0.85894	0.655000	0.94253	GAG		0.537	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		60	296	0	0	0	1	0	60	296				
AHCY	191	broad.mit.edu	37	20	32883326	32883326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32883326G>T	ENST00000217426.2	-	2	171	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000538132.1_Missense_Mutation_p.L4M	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	32					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATACGCATCAGGCCCGGCATC	0.652																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(10-12)Ctg>Atg		adenosylhomocysteinase							37.0	33.0	34.0					20																	32883326		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32883326G>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.94C>A	20.37:g.32883326G>T	ENSP00000217426:p.Leu32Met					AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Missense_Mutation_p.L32M	p.L4M	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			2	396	-			32					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.10C>A	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	g	16.51	3.142990	0.57044	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.83673	-1.75;-1.75	4.96	0.755	0.18415	.	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88632	0.3170	10	0.87932	D	0	.	9.1209	0.36786	0.3722:0.0:0.6278:0.0	.	4;32	B3KUN3;P23526	.;SAHH_HUMAN	M	32;4	ENSP00000217426:L32M;ENSP00000442820:L4M	ENSP00000217426:L32M	L	-	1	2	AHCY	32346987	1.000000	0.71417	0.991000	0.47740	0.440000	0.31957	3.479000	0.53165	-0.018000	0.14079	-0.355000	0.07637	CTG		0.652	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		39	165	1	0	5.43694e-19	1	6.05247e-19	39	165				
WDR34	89891	broad.mit.edu	37	9	131396214	131396214	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131396214C>A	ENST00000372715.2	-	9	1480	c.1420G>T	c.(1420-1422)Gtt>Ttt	p.V474F	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	474						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TTGATCAAAACTGTGGGTTTC	0.517																																						ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(1420-1422)Gtt>Ttt		WD repeat domain 34							48.0	49.0	49.0					9																	131396214		2195	4283	6478	SO:0001583	missense	89891					cytoplasm		g.chr9:131396214C>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1420G>T	9.37:g.131396214C>A	ENSP00000361800:p.Val474Phe						p.V474F	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			9	1480	-			474					Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1420G>T	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725911	0.48833	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.42	2.62	0.31277	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.240373	0.42053	D	0.000761	T	0.39860	0.1094	M	0.72479	2.2	0.09310	N	1	B	0.34313	0.448	P	0.46389	0.515	T	0.36672	-0.9738	10	0.62326	D	0.03	-6.2037	5.8772	0.18836	0.0:0.638:0.1376:0.2244	.	474	Q96EX3	WDR34_HUMAN	F	474	ENSP00000361800:V474F	ENSP00000361800:V474F	V	-	1	0	WDR34	130436035	0.926000	0.31397	0.002000	0.10522	0.810000	0.45777	2.322000	0.43814	0.284000	0.22305	-0.291000	0.09656	GTT		0.517	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		10	385	1	0	0.0692343	1	0.0693721	10	385				
SPSB3	90864	broad.mit.edu	37	16	1827983	1827983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827983C>T	ENST00000566339.1	-	5	889	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	187	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCATCCCTGCCCAGCAGGCTG	0.697																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(559-561)Ggc>Agc		splA/ryanodine receptor domain and SOCS box containing 3							57.0	57.0	57.0					16																	1827983		2197	4300	6497	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1827983C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.559G>A	16.37:g.1827983C>T	ENSP00000457206:p.Gly187Ser					SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	p.G187S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			5	889	-			187			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.559G>A	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937168	0.92458	.	.	ENSG00000162032	ENST00000301717	D	0.86562	-2.14	4.29	4.29	0.51040	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	H	0.94771	3.58	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.95015	0.8155	10	0.87932	D	0	-31.5361	10.1509	0.42794	0.0:0.8992:0.0:0.1008	.	187	Q6PJ21	SPSB3_HUMAN	S	187	ENSP00000301717:G187S	ENSP00000301717:G187S	G	-	1	0	SPSB3	1767984	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	5.487000	0.66863	1.918000	0.55548	0.561000	0.74099	GGC		0.697	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		46	260	0	0	0	1	0	46	260				
TGM1	7051	broad.mit.edu	37	14	24724683	24724683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24724683C>T	ENST00000206765.6	-	11	1655	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	511					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGAAGCTGCCATCATCCTG	0.552																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(1531-1533)gGc>gAc		transglutaminase 1	L-Glutamine(DB00130)						100.0	82.0	88.0					14																	24724683		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24724683C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1532G>A	14.37:g.24724683C>T	ENSP00000206765:p.Gly511Asp					TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	p.G511D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	11	1655	-			511					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.1532G>A	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870567	0.91587	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.81996	-1.56;-1.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.66439	2.03	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90846	0.4727	10	0.72032	D	0.01	-31.6259	16.9613	0.86273	0.0:1.0:0.0:0.0	.	511	P22735	TGM1_HUMAN	D	511;69	ENSP00000206765:G511D;ENSP00000439446:G69D	ENSP00000206765:G511D	G	-	2	0	TGM1	23794523	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	2.779000	0.47734	2.602000	0.87976	0.655000	0.94253	GGC		0.552	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		24	279	0	0	0	1	0	24	279				
TRRAP	8295	broad.mit.edu	37	7	98497112	98497112	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98497112T>C	ENST00000359863.4	+	9	910	c.701T>C	c.(700-702)tTa>tCa	p.L234S	TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S|TRRAP_ENST00000446306.3_Missense_Mutation_p.L234S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	234					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGTTGTTTTAATGTATCAG	0.413																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(700-702)tTa>tCa		transformation/transcription domain-associated protein							166.0	160.0	162.0					7																	98497112		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98497112T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.701T>C	7.37:g.98497112T>C	ENSP00000352925:p.Leu234Ser					TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S|TRRAP_ENST00000446306.3_Missense_Mutation_p.L234S	p.L234S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	910	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		234					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.701T>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654112	0.67472	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03181	4.03;4.02	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.56097	D	0.000026	T	0.12689	0.0308	L	0.46567	1.45	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.08371	-1.0725	10	0.32370	T	0.25	.	15.5558	0.76192	0.0:0.0:0.0:1.0	.	234;234	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	S	234	ENSP00000352925:L234S;ENSP00000347733:L234S	ENSP00000347733:L234S	L	+	2	0	TRRAP	98335048	1.000000	0.71417	0.875000	0.34327	0.971000	0.66376	7.915000	0.87484	2.136000	0.66102	0.379000	0.24179	TTA		0.413	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		97	438	0	0	0	1	0	97	438				
ARHGAP17	55114	broad.mit.edu	37	16	24946886	24946886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24946886C>T	ENST00000289968.6	-	18	1868	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	600	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGATTTTGGCCAGATGCTAT	0.567																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1798-1800)gGc>gAc		Rho GTPase activating protein 17							85.0	79.0	81.0					16																	24946886		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24946886C>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1799G>A	16.37:g.24946886C>T	ENSP00000289968:p.Gly600Asp					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D	p.G600D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	18	1868	-			600			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1799G>A	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524083	0.44866	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.22945	1.93;1.96	5.3	4.32	0.51571	.	0.158822	0.29579	N	0.011758	T	0.41026	0.1141	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.998;0.966;0.999;1.0	P;P;D;D	0.70016	0.876;0.598;0.967;0.957	T	0.19095	-1.0316	10	0.16420	T	0.52	.	10.8375	0.46696	0.1965:0.8035:0.0:0.0	.	522;600;133;433	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	600;522;600	ENSP00000289968:G600D;ENSP00000303130:G522D	ENSP00000289968:G600D	G	-	2	0	ARHGAP17	24854387	0.786000	0.28738	0.719000	0.30619	0.112000	0.19704	1.485000	0.35519	1.172000	0.42781	0.655000	0.94253	GGC		0.567	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		17	137	0	0	0	1	0	17	137				
EMC1	23065	broad.mit.edu	37	1	19545802	19545802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19545802G>A	ENST00000477853.1	-	23	3019	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Nonsense_Mutation_p.R971*|EMC1_ENST00000375199.3_Nonsense_Mutation_p.R992*|EMC1_ENST00000480380.1_5'UTR	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	993						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTTCTTTATCGCCAGGCCCGA	0.507																																						ENST00000477853.1																			0											c.(2977-2979)Cga>Tga		ER membrane protein complex subunit 1							71.0	67.0	68.0					1																	19545802		2203	4300	6503	SO:0001587	stop_gained	23065							g.chr1:19545802G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2977C>T	1.37:g.19545802G>A	ENSP00000420608:p.Arg993*					EMC1_ENST00000375208.3_Nonsense_Mutation_p.R971*|EMC1_ENST00000375199.3_Nonsense_Mutation_p.R992*|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'UTR	p.R993*	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					23	3019	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Nonsense_Mutation	SNP	ENST00000477853.1	37	c.2977C>T	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.370882|7.370882	0.98241|0.98241	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|.	.|.	.|.	6.06|6.06	4.12|4.12	0.48240|0.48240	.|.	.|0.049774	.|0.85682	.|D	.|0.000000	T|.	0.49372|.	0.1553|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27905|.	-1.0060|.	4|.	.|0.11794	.|T	.|0.64	.|.	12.0734|12.0734	0.53630|0.53630	0.0:0.1312:0.7322:0.1365|0.0:0.1312:0.7322:0.1365	.|.	.|.	.|.	.|.	V|X	617|993;992;971	.|.	.|ENSP00000364345:R992X	A|R	-|-	2|1	0|2	KIAA0090|KIAA0090	19418389|19418389	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.973000|0.973000	0.67179|0.67179	5.288000|5.288000	0.65651|0.65651	0.823000|0.823000	0.34589|0.34589	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.507	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		54	188	0	0	0	1	0	54	188				
CDH26	60437	broad.mit.edu	37	20	58569416	58569416	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569416C>T	ENST00000244047.5	+	11	1849	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.A513V|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	513					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGTGAGTCTGCTGTGCATGAG	0.552																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1537-1539)gCt>gTt		cadherin 26							86.0	76.0	79.0					20																	58569416		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569416C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1538C>T	20.37:g.58569416C>T	ENSP00000244047:p.Ala513Val					CDH26_ENST00000244047.5_Missense_Mutation_p.A513V|CDH26_ENST00000497614.1_3'UTR	p.A513V	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1838	+	all_lung(29;0.00963)		513					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1538C>T		.	.	.	.	.	.	.	.	.	.	C	14.08	2.429050	0.43122	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61392	0.11;0.11	4.58	1.06	0.20224	Cadherin-like (2);	0.881551	0.09841	N	0.748865	T	0.50086	0.1595	M	0.66939	2.045	0.09310	N	1	B;B	0.29612	0.251;0.22	B;B	0.29524	0.07;0.103	T	0.44787	-0.9305	10	0.40728	T	0.16	.	3.5879	0.07978	0.2297:0.5454:0.1225:0.1023	.	513;513	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	V	513	ENSP00000244047:A513V;ENSP00000339390:A513V	ENSP00000244047:A513V	A	+	2	0	CDH26	58002811	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.409000	0.21082	0.341000	0.23771	0.655000	0.94253	GCT		0.552	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		50	246	0	0	0	1	0	50	246				
EGFLAM	133584	broad.mit.edu	37	5	38409193	38409193	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38409193T>G	ENST00000354891.3	+	10	1682	c.1336T>G	c.(1336-1338)Tcc>Gcc	p.S446A	EGFLAM_ENST00000322350.5_Missense_Mutation_p.S446A|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	446	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATCCGACGCTCCCTGCAGTT	0.433																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1336-1338)Tcc>Gcc		EGF-like, fibronectin type III and laminin G domains							69.0	60.0	63.0					5																	38409193		2203	4299	6502	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38409193T>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1336T>G	5.37:g.38409193T>G	ENSP00000346964:p.Ser446Ala					EGFLAM_ENST00000354891.3_Missense_Mutation_p.S446A|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A|EGFLAM_ENST00000397202.2_Intron	p.S446A	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			10	1682	+	all_lung(31;0.000385)		446			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1336T>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410940	0.25465	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.75367	-0.93;-0.93;-0.93	5.82	0.287	0.15714	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.296656	0.35495	N	0.003162	T	0.54303	0.1850	L	0.28115	0.83	0.09310	N	0.999999	B;B;B	0.21147	0.052;0.04;0.035	B;B;B	0.24006	0.029;0.05;0.026	T	0.33954	-0.9848	10	0.17369	T	0.5	-23.2083	6.6251	0.22824	0.3549:0.0:0.3772:0.2679	.	212;446;446	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	A	446;446;212;212	ENSP00000346964:S446A;ENSP00000313084:S446A;ENSP00000337607:S212A	ENSP00000313084:S446A	S	+	1	0	EGFLAM	38444950	0.028000	0.19301	0.001000	0.08648	0.960000	0.62799	1.548000	0.36201	-0.188000	0.10499	0.533000	0.62120	TCC		0.433	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		8	25	0	0	0	1	0	8	25				
STX3	6809	broad.mit.edu	37	11	59560891	59560891	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560891G>A	ENST00000337979.4	+	8	1126	c.579G>A	c.(577-579)gaG>gaA	p.E193E	STX3_ENST00000535361.1_Silent_p.E193E|STX3_ENST00000529177.1_Silent_p.E193E|STX3_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000300150.7_Silent_p.E162E	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	193	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CCCTCAGTGAGATTGAGGGAC	0.517																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(577-579)gaG>gaA		syntaxin 3							115.0	92.0	100.0					11																	59560891		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59560891G>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.579G>A	11.37:g.59560891G>A						STX3_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000337979.4_Silent_p.E193E|STX3_ENST00000529177.1_Silent_p.E193E|STX3_ENST00000300150.7_Silent_p.E162E	p.E193E			Q13277	STX3_HUMAN			8	1126	+			193			t-SNARE coiled-coil homology.		B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.579G>A	CCDS7975.1																																																																																				0.517	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		25	241	0	0	0	1	0	25	241				
GK2	2712	broad.mit.edu	37	4	80328744	80328744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328744C>A	ENST00000358842.3	-	1	628	c.611G>T	c.(610-612)aGg>aTg	p.R204M		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATTGTCCTACTTGCATT	0.388																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(610-612)aGg>aTg		glycerol kinase 2							91.0	90.0	90.0					4																	80328744		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328744C>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.611G>T	4.37:g.80328744C>A	ENSP00000351706:p.Arg204Met						p.R204M	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	628	-			204					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.611G>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416965	0.42918	.	.	ENSG00000196475	ENST00000358842	T	0.50548	0.74	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86724	0.1944	10	0.87932	D	0	-2.7747	14.2359	0.65927	0.0:1.0:0.0:0.0	.	204	Q14410	GLPK2_HUMAN	M	204	ENSP00000351706:R204M	ENSP00000351706:R204M	R	-	2	0	GK2	80547768	1.000000	0.71417	0.188000	0.23233	0.215000	0.24574	7.259000	0.78381	2.496000	0.84212	0.585000	0.79938	AGG		0.388	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		75	433	1	0	4.09166e-32	1	4.82809e-32	75	433				
KIF1A	547	broad.mit.edu	37	2	241666339	241666339	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241666339C>A	ENST00000320389.7	-	37	3881	c.3723G>T	c.(3721-3723)gaG>gaT	p.E1241D	KIF1A_ENST00000498729.2_Missense_Mutation_p.E1342D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1241					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCACGCAGCCTCAAATTGGT	0.527																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(4024-4026)gaG>gaT		kinesin family member 1A							52.0	54.0	53.0					2																	241666339		2044	4219	6263	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241666339C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3723G>T	2.37:g.241666339C>A	ENSP00000322791:p.Glu1241Asp					KIF1A_ENST00000320389.7_Missense_Mutation_p.E1241D	p.E1342D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	39	4272	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1241					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.4026G>T	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425037|3.425037	0.62733|0.62733	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000431776	T;T;T|.	0.75589|.	-0.81;-0.89;-0.95|.	4.62|4.62	-0.146|-0.146	0.13432|0.13432	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.78456|0.78456	2.415|2.415	0.45227|0.45227	D|D	0.998237|0.998237	B;B;P|.	0.43431|.	0.149;0.05;0.807|.	B;B;B|.	0.41946|.	0.109;0.041;0.371|.	T|T	0.67593|0.67593	-0.5631|-0.5631	10|5	0.46703|.	T|.	0.11|.	.|.	9.9148|9.9148	0.41427|0.41427	0.0:0.5485:0.0:0.4515|0.0:0.5485:0.0:0.4515	.|.	1342;1350;1241|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	D|M	1241;1342;1350;1350|174	ENSP00000322791:E1241D;ENSP00000438388:E1342D;ENSP00000384231:E1350D|.	ENSP00000322791:E1241D|.	E|R	-|-	3|2	2|0	KIF1A|KIF1A	241315012|241315012	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.756000|0.756000	0.42949|0.42949	1.795000|1.795000	0.38784|0.38784	0.056000|0.056000	0.16144|0.16144	-0.237000|-0.237000	0.12165|0.12165	GAG|AGG		0.527	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		22	69	1	0	2.89027e-11	1	3.08062e-11	22	69				
GDF5	8200	broad.mit.edu	37	20	34025405	34025405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34025405C>T	ENST00000374372.1	-	3	807	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GDF5_ENST00000374369.3_Missense_Mutation_p.G102S			P43026	GDF5_HUMAN	growth differentiation factor 5	102					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCAGGGCCGCCCGGTCTGGGG	0.647																																						ENST00000374372.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26						c.(304-306)Ggc>Agc		growth differentiation factor 5							42.0	46.0	44.0					20																	34025405		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34025405C>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.304G>A	20.37:g.34025405C>T	ENSP00000363492:p.Gly102Ser					GDF5_ENST00000374369.3_Missense_Mutation_p.G102S	p.G102S			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		3	807	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		102					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.304G>A	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280357	0.23392	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.28454	1.61;1.61	4.39	4.39	0.52855	.	1.770760	0.03377	N	0.199874	T	0.30039	0.0752	N	0.24115	0.695	0.22858	N	0.998645	B;B	0.21520	0.057;0.057	B;B	0.12837	0.008;0.008	T	0.37619	-0.9698	10	0.49607	T	0.09	.	17.1029	0.86654	0.0:1.0:0.0:0.0	.	102;102	F1T0J1;P43026	.;GDF5_HUMAN	S	102	ENSP00000363489:G102S;ENSP00000363492:G102S	ENSP00000363489:G102S	G	-	1	0	GDF5	33488819	0.830000	0.29337	0.996000	0.52242	0.169000	0.22640	1.837000	0.39201	2.256000	0.74724	0.313000	0.20887	GGC		0.647	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			71	265	0	0	0	1	0	71	265				
DPM1	8813	broad.mit.edu	37	20	49575496	49575496	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49575496G>A	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Silent_p.Q39Q|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGGAACCGCAGCCAGAACGGC	0.607																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(115-117)caG>caA		molybdenum cofactor synthesis 3							41.0	47.0	45.0					20																	49575496		2179	4249	6428	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575496G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575496G>A	Exception_encountered						p.Q39Q	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	134	+			39					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.117G>A	CCDS13434.1																																																																																				0.607	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		40	496	0	0	0	1	0	40	496				
MAP10	54627	broad.mit.edu	37	1	232943054	232943054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232943054G>T	ENST00000418460.1	+	1	2412	c.2285G>T	c.(2284-2286)aGt>aTt	p.S762I		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	620	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										GAAGTTGTGAGTCCTGCAAAT	0.338																																						ENST00000418460.1																			0											c.(2284-2286)aGt>aTt		microtubule-associated protein 10							82.0	84.0	83.0					1																	232943054		1829	4073	5902	SO:0001583	missense	54627							g.chr1:232943054G>T	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2285G>T	1.37:g.232943054G>T	ENSP00000403208:p.Ser762Ile						p.S762I	NM_019090.2	NP_061963.2					1	2412	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.2285G>T	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345858	0.24426	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.78	2.88	0.33553	.	0.311639	0.22688	U	0.056857	T	0.36608	0.0973	L	0.56769	1.78	0.09310	N	1	P	0.40875	0.731	B	0.38264	0.269	T	0.26360	-1.0105	9	0.56958	D	0.05	-2.8055	8.6023	0.33751	0.2529:0.0:0.7471:0.0	.	620	Q9P2G4	K1383_HUMAN	I	762	.	ENSP00000403208:S762I	S	+	2	0	KIAA1383	231009677	0.000000	0.05858	0.162000	0.22713	0.298000	0.27526	0.120000	0.15647	0.906000	0.36621	-0.216000	0.12614	AGT		0.338	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		71	397	1	0	1.37693e-34	1	1.6385e-34	71	397				
ZKSCAN2	342357	broad.mit.edu	37	16	25255541	25255541	+	Missense_Mutation	SNP	G	G	A	rs544572365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25255541G>A	ENST00000328086.7	-	6	2349	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	516					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAACCGAGTCTCACGG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17400	0.0		0.0	False		,,,				2504	0.001					ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1546-1548)Cgg>Tgg		zinc finger with KRAB and SCAN domains 2							58.0	58.0	58.0					16																	25255541		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255541G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1546C>T	16.37:g.25255541G>A	ENSP00000331626:p.Arg516Trp						p.R516W	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2349	-			516					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1546C>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021567	0.75275	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.48836	0.8	5.48	4.53	0.55603	SANT domain, DNA binding (1);	0.122880	0.38272	N	0.001742	T	0.42944	0.1225	L	0.53249	1.67	0.36416	D	0.864056	B;B	0.22346	0.04;0.068	B;B	0.19946	0.027;0.027	T	0.52290	-0.8595	10	0.66056	D	0.02	-6.1889	10.6188	0.45467	0.0887:0.0:0.9113:0.0	.	312;516	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	516	ENSP00000331626:R516W	ENSP00000331626:R516W	R	-	1	2	ZKSCAN2	25163042	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.457000	0.53007	1.456000	0.47831	0.655000	0.94253	CGG		0.483	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		100	393	0	0	0	1	0	100	393				
SLC10A5	347051	broad.mit.edu	37	8	82606840	82606840	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606840A>G	ENST00000518568.1	-	1	1569	c.368T>C	c.(367-369)gTc>gCc	p.V123A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	123						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGCACTTTGACTTTCACATT	0.358																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(367-369)gTc>gCc		solute carrier family 10, member 5							147.0	137.0	140.0					8																	82606840		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606840A>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.368T>C	8.37:g.82606840A>G	ENSP00000428612:p.Val123Ala						p.V123A	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1569	-			123					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.368T>C	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546548	0.45383	.	.	ENSG00000253598	ENST00000518568	T	0.09538	2.97	6.17	5.01	0.66863	.	0.674660	0.12872	N	0.432189	T	0.07279	0.0184	L	0.27053	0.805	0.25180	N	0.990217	P	0.42871	0.792	B	0.35182	0.197	T	0.24012	-1.0172	10	0.28530	T	0.3	-6.5206	9.4185	0.38536	0.9187:0.0:0.0813:0.0	.	123	Q5PT55	NTCP5_HUMAN	A	123	ENSP00000428612:V123A	ENSP00000428612:V123A	V	-	2	0	SLC10A5	82769395	0.970000	0.33590	0.996000	0.52242	0.901000	0.52897	3.086000	0.50159	2.371000	0.80710	0.533000	0.62120	GTC		0.358	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		68	345	0	0	0	1	0	68	345				
BRPF1	7862	broad.mit.edu	37	3	9786068	9786068	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9786068T>G	ENST00000457855.1	+	8	2789	c.2778T>G	c.(2776-2778)agT>agG	p.S926R	BRPF1_ENST00000424362.1_Missense_Mutation_p.S925R|BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R|BRPF1_ENST00000383829.2_Missense_Mutation_p.S932R|BRPF1_ENST00000433861.2_Intron			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	926	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACGGAGGCAGTCCTGTGGGGC	0.657																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(2794-2796)agT>agG		bromodomain and PHD finger containing, 1							16.0	21.0	19.0					3																	9786068		2200	4294	6494	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9786068T>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2778T>G	3.37:g.9786068T>G	ENSP00000410210:p.Ser926Arg					BRPF1_ENST00000424362.1_Missense_Mutation_p.S925R|BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000457855.1_Missense_Mutation_p.S926R|BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R	p.S932R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			9	3200	+	Medulloblastoma(99;0.227)		926			Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.2796T>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314121	0.60414	.	.	ENSG00000156983	ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T	0.18174	2.23;3.62;2.23;2.23	5.85	2.14	0.27477	.	0.085141	0.85682	D	0.000000	T	0.22244	0.0536	L	0.59436	1.845	0.58432	D	0.999994	D;D;P	0.57899	0.981;0.981;0.818	P;P;B	0.54026	0.74;0.74;0.331	T	0.08166	-1.0735	10	0.19590	T	0.45	.	6.4094	0.21682	0.0:0.5401:0.0:0.4599	.	925;932;926	P55201-3;P55201-2;P55201	.;.;BRPF1_HUMAN	R	925;932;926;926	ENSP00000398863:S925R;ENSP00000373340:S932R;ENSP00000306297:S926R;ENSP00000410210:S926R	ENSP00000306297:S926R	S	+	3	2	BRPF1	9761068	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.545000	0.23268	0.460000	0.27045	0.459000	0.35465	AGT		0.657	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		38	146	0	0	0	1	0	38	146				
IGFBP5	3488	broad.mit.edu	37	2	217559274	217559274	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217559274G>T	ENST00000233813.4	-	1	974	c.225C>A	c.(223-225)gcC>gcA	p.A75A	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	75	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCCCTGGGCGCAGCGCT	0.726																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(223-225)gcC>gcA		insulin-like growth factor binding protein 5							4.0	5.0	5.0					2																	217559274		1873	3748	5621	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217559274G>T		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.225C>A	2.37:g.217559274G>T						AC007563.5_ENST00000447289.1_RNA	p.A75A	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	974	-		Renal(323;0.0822)	75			IGFBP N-terminal.		Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.225C>A	CCDS2405.1																																																																																				0.726	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		10	37	1	0	2.74318e-10	1	2.90674e-10	10	37				
DCBLD2	131566	broad.mit.edu	37	3	98518306	98518306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518306G>A	ENST00000326840.6	-	16	2600	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	DCBLD2_ENST00000326857.9_Silent_p.D760D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	746					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.D746D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ACACCAATTCGTCTGGGGCAG	0.502																																						ENST00000326840.6																			1	Substitution - coding silent(1)	p.D746D(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(2236-2238)gaC>gaT		discoidin, CUB and LCCL domain containing 2							203.0	203.0	203.0					3																	98518306		1957	4150	6107	SO:0001819	synonymous_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518306G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2238C>T	3.37:g.98518306G>A						DCBLD2_ENST00000326857.9_Silent_p.D760D	p.D746D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			16	2600	-			746					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	37	c.2238C>T	CCDS46878.1																																																																																				0.502	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		191	880	0	0	0	1	0	191	880				
SSPN	8082	broad.mit.edu	37	12	26348816	26348816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26348816G>A	ENST00000242729.2	+	1	388	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	SSPN_ENST00000422622.2_Intron|SSPN_ENST00000540266.1_Intron|SSPN_ENST00000535504.1_Missense_Mutation_p.G71S	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	71					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)					GACCGTGGTGGGCTTCCTCAT	0.642																																						ENST00000242729.2																			0				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(211-213)Ggc>Agc		sarcospan							43.0	23.0	30.0					12																	26348816		2147	4256	6403	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26348816G>A	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.211G>A	12.37:g.26348816G>A	ENSP00000242729:p.Gly71Ser					SSPN_ENST00000422622.2_Intron|SSPN_ENST00000535504.1_Missense_Mutation_p.G71S|SSPN_ENST00000540266.1_Intron	p.G71S	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN			1	388	+	Colorectal(261;0.0847)		71					B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.211G>A	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138322	0.77775	.	.	ENSG00000123096	ENST00000242729;ENST00000441067;ENST00000535504	T;T	0.04454	3.62;3.62	4.16	4.16	0.48862	.	0.060238	0.64402	D	0.000002	T	0.05044	0.0135	N	0.15975	0.35	0.43761	D	0.996276	P;P;P	0.51537	0.946;0.889;0.896	P;P;P	0.50314	0.637;0.526;0.548	T	0.52931	-0.8509	10	0.35671	T	0.21	-16.8356	9.7617	0.40537	0.0945:0.0:0.9055:0.0	.	71;71;71	F5H0K2;A1YBP2;Q14714	.;.;SSPN_HUMAN	S	71;45;71	ENSP00000242729:G71S;ENSP00000438801:G71S	ENSP00000242729:G71S	G	+	1	0	SSPN	26240083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	2.321000	0.78463	0.655000	0.94253	GGC		0.642	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		7	51	0	0	0	1	0	7	51				
CFI	3426	broad.mit.edu	37	4	110667516	110667516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110667516C>T	ENST00000394634.2	-	11	1498	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	CFI_ENST00000512148.1_Missense_Mutation_p.A424T|CFI_ENST00000394635.3_Missense_Mutation_p.A439T	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	431	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCAATCAAAGCGATGTCATTT	0.408																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27						c.(1291-1293)Gct>Act		complement factor I							164.0	146.0	152.0					4																	110667516		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110667516C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1291G>A	4.37:g.110667516C>T	ENSP00000378130:p.Ala431Thr					CFI_ENST00000512148.1_Missense_Mutation_p.A424T|CFI_ENST00000394635.3_Missense_Mutation_p.A439T	p.A431T	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	11	1498	-		Hepatocellular(203;0.217)	431			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1291G>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836600	0.71373	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.97976	-4.64;-4.64;-4.64	5.73	5.73	0.89815	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.114120	0.64402	D	0.000015	D	0.99121	0.9697	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.973;0.916;0.993	D	0.99383	1.0923	10	0.87932	D	0	-17.3083	18.1393	0.89634	0.0:1.0:0.0:0.0	.	439;424;431	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	T	439;431;424	ENSP00000378131:A439T;ENSP00000378130:A431T;ENSP00000427438:A424T	ENSP00000378130:A431T	A	-	1	0	CFI	110886965	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.689000	0.74562	2.716000	0.92895	0.558000	0.71614	GCT		0.408	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		10	439	0	0	0	1	0	10	439				
TEP1	7011	broad.mit.edu	37	14	20843925	20843925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20843925C>T	ENST00000262715.5	-	43	6392	c.6352G>A	c.(6352-6354)Gat>Aat	p.D2118N	TEP1_ENST00000556935.1_Missense_Mutation_p.D2010N|TEP1_ENST00000545983.1_Missense_Mutation_p.D456N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2118					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTAGGTTATCTTTGGTCCAG	0.582																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6352-6354)Gat>Aat		telomerase-associated protein 1							56.0	56.0	56.0					14																	20843925		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20843925C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6352G>A	14.37:g.20843925C>T	ENSP00000262715:p.Asp2118Asn					TEP1_ENST00000545983.1_Missense_Mutation_p.D456N|TEP1_ENST00000556935.1_Missense_Mutation_p.D2010N	p.D2118N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	43	6392	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2118					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6352G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492157	0.84962	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.81078	2.18;2.18;-1.45	5.62	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.219026	0.46145	N	0.000317	T	0.80788	0.4690	L	0.33339	1.005	0.38011	D	0.934544	D;B;D;B	0.60575	0.988;0.291;0.985;0.339	P;B;P;B	0.58266	0.836;0.177;0.802;0.168	T	0.81852	-0.0742	10	0.39692	T	0.17	-13.3143	11.8809	0.52576	0.0:0.9179:0.0:0.0821	.	456;2010;1461;2118	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	N	2118;2118;2010;456	ENSP00000262715:D2118N;ENSP00000452574:D2010N;ENSP00000438849:D456N	ENSP00000262715:D2118N	D	-	1	0	TEP1	19913765	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	1.942000	0.40243	1.380000	0.46344	0.563000	0.77884	GAT		0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		33	161	0	0	0	1	0	33	161				
PRDM1	639	broad.mit.edu	37	6	106553699	106553699	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106553699A>G	ENST00000369096.4	+	5	1898	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S	PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S|PRDM1_ENST00000369091.2_Missense_Mutation_p.N519S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	555	Interaction with PIAS1.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AACAAAAGAAACATGACCGGC	0.547			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1663-1665)aAc>aGc		PR domain containing 1, with ZNF domain							57.0	58.0	57.0					6																	106553699		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553699A>G		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1664A>G	6.37:g.106553699A>G	ENSP00000358092:p.Asn555Ser					PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S|PRDM1_ENST00000369091.2_Missense_Mutation_p.N519S	p.N555S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1898	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	555					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1664A>G	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674326	0.47781	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.06687	3.29;3.27;3.29	5.74	5.74	0.90152	.	0.125824	0.85682	D	0.000000	T	0.04363	0.0120	L	0.48362	1.52	0.51012	D	0.999903	B;B	0.28128	0.112;0.201	B;B	0.27715	0.053;0.082	T	0.35724	-0.9777	10	0.22706	T	0.39	-47.0413	16.0421	0.80691	1.0:0.0:0.0:0.0	.	421;555	Q86WM7;O75626	.;PRDM1_HUMAN	S	519;555;518;421	ENSP00000358087:N519S;ENSP00000358092:N555S;ENSP00000358085:N421S	ENSP00000358085:N421S	N	+	2	0	PRDM1	106660392	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	4.211000	0.58507	2.192000	0.70111	0.533000	0.62120	AAC		0.547	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			60	299	0	0	0	1	0	60	299				
TIPARP	25976	broad.mit.edu	37	3	156422599	156422599	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156422599C>A	ENST00000461166.1	+	6	2241	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	TIPARP_ENST00000486483.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V|TIPARP_ENST00000542783.1_Silent_p.V551V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	551	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCCTCGAGTCTGTGGAAAGC	0.418																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1651-1653)gtC>gtA		TCDD-inducible poly(ADP-ribose) polymerase							165.0	166.0	166.0					3																	156422599		2203	4300	6503	SO:0001819	synonymous_variant	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156422599C>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1653C>A	3.37:g.156422599C>A						TIPARP_ENST00000486483.1_Silent_p.V551V|TIPARP_ENST00000542783.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V	p.V551V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		6	2241	+			551			PARP catalytic.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	c.1653C>A	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376662	0.11466	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.77	4.85	0.62838	.	.	.	.	.	T	0.72252	0.3437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70615	-0.4823	4	.	.	.	.	16.9661	0.86286	0.0:0.7817:0.2183:0.0	.	.	.	.	M	254	.	.	L	+	1	2	TIPARP	157905293	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.415000	0.21181	2.726000	0.93360	0.650000	0.86243	CTG		0.418	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		167	870	1	0	1.42649e-92	1	1.83228e-92	167	870				
SYNGR3	9143	broad.mit.edu	37	16	2042976	2042976	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042976T>C	ENST00000248121.2	+	4	751	c.593T>C	c.(592-594)gTg>gCg	p.V198A	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	198					positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						GGCTATCCGGTGGGCAGCGGC	0.692																																						ENST00000248121.2																			0				endometrium(1)|lung(2)	3						c.(592-594)gTg>gCg		synaptogyrin 3							23.0	22.0	22.0					16																	2042976		2193	4294	6487	SO:0001583	missense	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042976T>C	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.593T>C	16.37:g.2042976T>C	ENSP00000248121:p.Val198Ala					SYNGR3_ENST00000562045.1_3'UTR	p.V198A	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN			4	751	+			198					B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	c.593T>C	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	t	2.597	-0.293785	0.05568	.	.	ENSG00000127561	ENST00000248121	T	0.12984	2.63	3.63	2.48	0.30137	.	0.367084	0.27442	N	0.019357	T	0.05502	0.0145	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.16896	T	0.51	.	3.3863	0.07273	0.0:0.3591:0.0:0.6409	.	198	O43761	SNG3_HUMAN	A	198	ENSP00000248121:V198A	ENSP00000248121:V198A	V	+	2	0	SYNGR3	1982977	0.982000	0.34865	0.994000	0.49952	0.865000	0.49528	2.578000	0.46051	1.512000	0.48834	0.379000	0.24179	GTG		0.692	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			28	133	0	0	0	1	0	28	133				
HECW1	23072	broad.mit.edu	37	7	43590119	43590119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43590119C>T	ENST00000395891.2	+	27	4929	c.4324C>T	c.(4324-4326)Cgc>Tgc	p.R1442C	HECW1_ENST00000453890.1_Missense_Mutation_p.R1408C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1442	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACATCGAGCGCATGGTGAA	0.587																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(4324-4326)Cgc>Tgc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1																																				SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43590119C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4324C>T	7.37:g.43590119C>T	ENSP00000379228:p.Arg1442Cys					HECW1_ENST00000453890.1_Missense_Mutation_p.R1408C	p.R1442C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			27	4929	+			1442			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.4324C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086304	0.76642	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.59224	0.28;0.28	5.62	1.73	0.24493	HECT (4);	0.048274	0.85682	D	0.000000	T	0.71178	0.3309	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.969	T	0.74025	-0.3797	10	0.87932	D	0	.	13.675	0.62449	0.5785:0.4215:0.0:0.0	.	1408;1442	B4DH42;Q76N89	.;HECW1_HUMAN	C	1442;1408;1442	ENSP00000379228:R1442C;ENSP00000407774:R1408C	ENSP00000265522:R1442C	R	+	1	0	HECW1	43556644	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.693000	0.37742	0.383000	0.24910	-0.274000	0.10170	CGC		0.587	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		16	100	0	0	0	1	0	16	100				
DNAH3	55567	broad.mit.edu	37	16	20975154	20975154	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975154T>C	ENST00000261383.3	-	53	10051	c.10052A>G	c.(10051-10053)gAc>gGc	p.D3351G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3351					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTGAAATGGTCAATGATGTA	0.473																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10051-10053)gAc>gGc		dynein, axonemal, heavy chain 3							174.0	133.0	147.0					16																	20975154		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975154T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10052A>G	16.37:g.20975154T>C	ENSP00000261383:p.Asp3351Gly					DNAH3_ENST00000415178.1_3'UTR	p.D3351G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10051	-			3351					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10052A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	7.842	0.722045	0.15372	.	.	ENSG00000158486	ENST00000261383	T	0.61980	0.06	5.78	5.78	0.91487	.	0.343223	0.30401	N	0.009716	T	0.66396	0.2785	M	0.87328	2.875	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.67741	-0.5592	10	0.72032	D	0.01	.	10.4542	0.44539	0.0:0.0724:0.0:0.9276	.	3351	Q8TD57	DYH3_HUMAN	G	3351	ENSP00000261383:D3351G	ENSP00000261383:D3351G	D	-	2	0	DNAH3	20882655	0.878000	0.30173	0.693000	0.30195	0.054000	0.15201	2.893000	0.48633	2.207000	0.71202	0.460000	0.39030	GAC		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		114	482	0	0	0	1	0	114	482				
DDX4	54514	broad.mit.edu	37	5	55094363	55094363	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55094363A>C	ENST00000505374.1	+	18	1671	c.1579A>C	c.(1579-1581)Aaa>Caa	p.K527Q	DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q|DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q|DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	527					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAGTTCTCAAAAAGAGAAAA	0.333																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1579-1581)Aaa>Caa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							123.0	122.0	123.0					5																	55094363		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55094363A>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1579A>C	5.37:g.55094363A>C	ENSP00000424838:p.Lys527Gln					DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q|DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q	p.K527Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			18	1671	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	527					A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1579A>C	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575244	0.86542	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	D;D;D;T;D;D	0.96459	-4.02;-4.02;-4.02;2.4;-4.02;-4.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	H	0.99336	4.52	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99066	1.0832	10	0.87932	D	0	-17.7786	15.951	0.79840	1.0:0.0:0.0:0.0	.	507;378;493;527	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	Q	493;507;527;507;493;378	ENSP00000334167:K493Q;ENSP00000425359:K507Q;ENSP00000424838:K527Q;ENSP00000427167:K507Q;ENSP00000347087:K493Q;ENSP00000423123:K378Q	ENSP00000334167:K493Q	K	+	1	0	DDX4	55130120	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	8.871000	0.92346	2.172000	0.68678	0.533000	0.62120	AAA		0.333	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		99	415	0	0	0	1	0	99	415				
GRM6	2916	broad.mit.edu	37	5	178413684	178413684	+	Missense_Mutation	SNP	G	G	T	rs143491269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413684G>T	ENST00000517717.1	-	9	1609	c.1571C>A	c.(1570-1572)cCg>cAg	p.P524Q	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P524Q			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	524					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCGCTCCCCCGGCCCGCAGGG	0.677																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1570-1572)cCg>cAg		glutamate receptor, metabotropic 6							32.0	31.0	31.0					5																	178413684		2201	4297	6498	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413684G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1571C>A	5.37:g.178413684G>T	ENSP00000430767:p.Pro524Gln					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P524Q	p.P524Q	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1749	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	524						Missense_Mutation	SNP	ENST00000517717.1	37	c.1571C>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811775	0.70797	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90504	-2.68;-2.68	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.95847	0.8648	M	0.90309	3.105	0.47245	D	0.999363	D;P	0.89917	1.0;0.463	D;B	0.80764	0.994;0.339	D	0.96038	0.9022	9	0.49607	T	0.09	.	15.3541	0.74415	0.0:0.0:1.0:0.0	.	680;524	E7EX65;O15303	.;GRM6_HUMAN	Q	680;524;524	ENSP00000231188:P524Q;ENSP00000430767:P524Q	ENSP00000231188:P524Q	P	-	2	0	GRM6	178346290	1.000000	0.71417	0.865000	0.33974	0.791000	0.44710	7.825000	0.86693	2.281000	0.76405	0.462000	0.41574	CCG		0.677	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			84	252	1	0	2.84431e-33	1	3.36965e-33	84	252				
VWA3B	200403	broad.mit.edu	37	2	98750327	98750327	+	Missense_Mutation	SNP	C	C	A	rs527274933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750327C>A	ENST00000477737.1	+	7	1117	c.913C>A	c.(913-915)Cct>Act	p.P305T	VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	305								p.P305S(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAGAATTTCCTGCATTCTC	0.458																																						ENST00000477737.1																			1	Substitution - Missense(1)	p.P305S(1)	NS(1)	NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(913-915)Cct>Act		von Willebrand factor A domain containing 3B							290.0	274.0	279.0					2																	98750327		2042	4196	6238	SO:0001583	missense	200403							g.chr2:98750327C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.913C>A	2.37:g.98750327C>A	ENSP00000417955:p.Pro305Thr					VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	p.P305T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			7	1117	+			305					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.913C>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629337	0.28978	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.22336	1.96;3.4;2.49	5.66	2.84	0.33178	.	0.306720	0.28219	N	0.016155	T	0.18718	0.0449	L	0.59436	1.845	0.09310	N	1	B;B;B	0.23442	0.04;0.085;0.066	B;B;B	0.19946	0.012;0.02;0.027	T	0.17592	-1.0364	10	0.24483	T	0.36	.	8.7159	0.34411	0.0:0.7487:0.0:0.2513	.	155;305;305	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	T	305;305;155	ENSP00000401959:P305T;ENSP00000417955:P305T;ENSP00000389463:P155T	ENSP00000411168:P305T	P	+	1	0	VWA3B	98116759	0.001000	0.12720	0.112000	0.21494	0.007000	0.05969	0.480000	0.22244	0.730000	0.32425	-0.140000	0.14226	CCT		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		183	934	1	0	2.27795e-59	1	2.8603e-59	183	934				
DPY19L2	283417	broad.mit.edu	37	12	64038261	64038261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64038261G>A	ENST00000324472.4	-	6	908	c.725C>T	c.(724-726)gCt>gTt	p.A242V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	242					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAAAGCAAGCAGGATCTCC	0.343																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(724-726)gCt>gTt		dpy-19-like 2 (C. elegans)							21.0	22.0	22.0					12																	64038261		2194	4272	6466	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64038261G>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.725C>T	12.37:g.64038261G>A	ENSP00000315988:p.Ala242Val					RP11-415I12.3_ENST00000509615.2_RNA	p.A242V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	6	908	-			242					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.725C>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750837	0.31046	.	.	ENSG00000177990	ENST00000324472	T	0.53206	0.63	2.36	2.36	0.29203	.	0.000000	0.85682	U	0.000000	T	0.40067	0.1102	L	0.47078	1.49	0.80722	D	1	P	0.37370	0.592	B	0.41174	0.349	T	0.16719	-1.0393	9	.	.	.	.	8.2359	0.31625	0.0:0.0:1.0:0.0	.	242	Q6NUT2	D19L2_HUMAN	V	242	ENSP00000315988:A242V	.	A	-	2	0	DPY19L2	62324528	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.025000	0.70864	1.318000	0.45170	0.194000	0.17425	GCT		0.343	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		27	146	0	0	0	1	0	27	146				
CAMTA1	23261	broad.mit.edu	37	1	7724600	7724600	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724600C>T	ENST00000303635.7	+	9	2200	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGTGGAGACGCGGATCGAGTC	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1993-1995)Cgg>Tgg		calmodulin binding transcription activator 1							108.0	102.0	104.0					1																	7724600		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724600C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1993C>T	1.37:g.7724600C>T	ENSP00000306522:p.Arg665Trp					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	p.R665W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2200	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	665					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1993C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.137842	0.37728	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21191	2.02;2.02	5.36	4.44	0.53790	.	0.634518	0.15611	N	0.253369	T	0.32376	0.0827	L	0.44542	1.39	0.35016	D	0.757345	D	0.69078	0.997	P	0.56434	0.798	T	0.44019	-0.9355	10	0.72032	D	0.01	-21.6128	12.6059	0.56523	0.4566:0.5434:0.0:0.0	.	665	Q9Y6Y1	CMTA1_HUMAN	W	665	ENSP00000306522:R665W;ENSP00000402561:R665W	ENSP00000306522:R665W	R	+	1	2	CAMTA1	7647187	0.004000	0.15560	0.799000	0.32177	0.742000	0.42306	0.064000	0.14437	1.253000	0.44018	0.498000	0.49722	CGG		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		72	810	0	0	0	1	0	72	810				
ALDH1L2	160428	broad.mit.edu	37	12	105462502	105462502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105462502C>T	ENST00000258494.9	-	4	729	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.A197T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	197	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTAACCATGGCCTTGATTCCT	0.338																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(589-591)Gcc>Acc		aldehyde dehydrogenase 1 family, member L2							79.0	76.0	77.0					12																	105462502		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105462502C>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.589G>A	12.37:g.105462502C>T	ENSP00000258494:p.Ala197Thr					ALDH1L2_ENST00000424857.2_Missense_Mutation_p.A197T	p.A197T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			4	729	-			197			GART.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.589G>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553253	0.96501	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.77358	-1.09;-1.09	6.06	6.06	0.98353	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89594	0.6760	M	0.86420	2.815	0.80722	D	1	D	0.56746	0.977	P	0.62560	0.904	D	0.90078	0.4168	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	197	Q3SY69	AL1L2_HUMAN	T	197	ENSP00000258494:A197T;ENSP00000389608:A197T	ENSP00000258494:A197T	A	-	1	0	ALDH1L2	103986632	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GCC		0.338	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		10	373	0	0	0	1	0	10	373				
ZNF512B	57473	broad.mit.edu	37	20	62592748	62592748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62592748C>T	ENST00000450537.1	-	16	2401	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	781					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TACTTCCCTGCCAGGTGGGCC	0.592																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(2341-2343)Gca>Aca		zinc finger protein 512B							89.0	79.0	83.0					20																	62592748		2202	4300	6502	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62592748C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2341G>A	20.37:g.62592748C>T	ENSP00000393795:p.Ala781Thr					ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T	p.A781T			Q96KM6	Z512B_HUMAN			16	2401	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		781					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2341G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460950	0.26248	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24151	1.87;1.87;1.87	5.23	5.23	0.72850	.	0.252101	0.34314	N	0.004076	T	0.18759	0.0450	N	0.17082	0.46	0.23559	N	0.997415	B	0.33777	0.425	B	0.32465	0.146	T	0.12016	-1.0564	10	0.28530	T	0.3	-10.0442	18.7906	0.91973	0.0:1.0:0.0:0.0	.	781	Q96KM6	Z512B_HUMAN	T	781	ENSP00000358904:A781T;ENSP00000393795:A781T;ENSP00000217130:A781T	ENSP00000217130:A781T	A	-	1	0	ZNF512B	62063192	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.092000	0.50207	2.448000	0.82819	0.591000	0.81541	GCA		0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		25	292	0	0	0	1	0	25	292				
DHRS13	147015	broad.mit.edu	37	17	27228610	27228610	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228610A>C	ENST00000378895.4	-	3	397	c.271T>G	c.(271-273)Ttc>Gtc	p.F91V	RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Missense_Mutation_p.F41V|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000426464.2_Intron	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	91						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AAGGCCATGAAGATGACCTCA	0.587																																						ENST00000394901.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(121-123)Ttc>Gtc		dehydrogenase/reductase (SDR family) member 13							95.0	86.0	89.0					17																	27228610		2203	4300	6503	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228610A>C	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.271T>G	17.37:g.27228610A>C	ENSP00000368173:p.Phe91Val					DHRS13_ENST00000378895.4_Missense_Mutation_p.F91V|DHRS13_ENST00000426464.2_Intron	p.F41V			Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		2	513	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		91					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.121T>G	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185176	0.57909	.	.	ENSG00000167536	ENST00000378895;ENST00000394901	D;D	0.86164	-2.08;-2.08	5.6	5.6	0.85130	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	N	0.03917	-0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78785	-0.2068	10	0.05351	T	0.99	.	14.9612	0.71158	1.0:0.0:0.0:0.0	.	91	Q6UX07	DHR13_HUMAN	V	91;41	ENSP00000368173:F91V;ENSP00000378361:F41V	ENSP00000368173:F91V	F	-	1	0	DHRS13	24252736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.676000	0.91199	2.134000	0.65973	0.454000	0.30748	TTC		0.587	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		65	276	0	0	0	1	0	65	276				
VWF	7450	broad.mit.edu	37	12	6128448	6128448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6128448C>T	ENST00000261405.5	-	28	4390	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1379	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGTGATGCGGGAGGCTTC	0.577																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4135-4137)cGc>cAc		von Willebrand factor	Antihemophilic Factor(DB00025)						46.0	49.0	48.0					12																	6128448		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128448C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4136G>A	12.37:g.6128448C>T	ENSP00000261405:p.Arg1379His						p.R1379H	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	4390	-			1379			VWFA 1; binding site for platelet glycoprotein Ib.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4136G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575938	0.45902	.	.	ENSG00000110799	ENST00000261405	D	0.83419	-1.72	4.98	3.13	0.36017	von Willebrand factor, type A (3);	0.328267	0.22298	N	0.061915	D	0.82852	0.5127	M	0.86420	2.815	0.28777	N	0.90008	B	0.32350	0.366	B	0.34536	0.185	T	0.77752	-0.2470	10	0.52906	T	0.07	.	6.7007	0.23223	0.0:0.6382:0.0:0.3618	.	1379	P04275	VWF_HUMAN	H	1379	ENSP00000261405:R1379H	ENSP00000261405:R1379H	R	-	2	0	VWF	5998709	0.991000	0.36638	0.371000	0.25978	0.644000	0.38419	2.269000	0.43346	0.683000	0.31428	-0.300000	0.09419	CGC		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		63	440	0	0	0	1	0	63	440				
ATOH7	220202	broad.mit.edu	37	10	69991175	69991175	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69991175C>A	ENST00000373673.3	-	1	696	c.260G>T	c.(259-261)aGc>aTc	p.S87I	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	87	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CATGATGTAGCTCAGGGCCAT	0.637																																						ENST00000373673.3																			0											c.(259-261)aGc>aTc		atonal homolog 7 (Drosophila)							57.0	55.0	55.0					10																	69991175		2203	4300	6503	SO:0001583	missense	220202				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr10:69991175C>A	AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"""Basic helix-loop-helix proteins"""	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.260G>T	10.37:g.69991175C>A	ENSP00000362777:p.Ser87Ile						p.S87I	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN			1	696	-			87			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000373673.3	37	c.260G>T	CCDS7276.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824458	0.90955	.	.	ENSG00000179774	ENST00000373673	D	0.97976	-4.64	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	L	0.38733	1.17	0.80722	D	1	P	0.39535	0.677	P	0.46479	0.518	D	0.95889	0.8905	9	.	.	.	-5.8489	17.9986	0.89192	0.0:1.0:0.0:0.0	.	87	Q8N100	ATOH7_HUMAN	I	87	ENSP00000362777:S87I	.	S	-	2	0	ATOH7	69661181	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.902000	0.63266	2.240000	0.73641	0.561000	0.74099	AGC		0.637	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048312.1			18	137	1	0	3.41278e-10	1	3.61262e-10	18	137				
ANK2	287	broad.mit.edu	37	4	114161720	114161720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161720C>T	ENST00000357077.4	+	8	826	c.773C>T	c.(772-774)gCt>gTt	p.A258V	ANK2_ENST00000506722.1_Missense_Mutation_p.A237V|ANK2_ENST00000264366.6_Missense_Mutation_p.A258V|ANK2_ENST00000394537.3_Missense_Mutation_p.A258V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	258					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGGGGAGCTGCTGTGGACTTC	0.398																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(772-774)gCt>gTt		ankyrin 2, neuronal							120.0	112.0	114.0					4																	114161720		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114161720C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.773C>T	4.37:g.114161720C>T	ENSP00000349588:p.Ala258Val					ANK2_ENST00000506722.1_Missense_Mutation_p.A237V|ANK2_ENST00000394537.3_Missense_Mutation_p.A258V|ANK2_ENST00000264366.6_Missense_Mutation_p.A258V	p.A258V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	8	826	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	258					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.773C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910861	0.52439	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.53423	1.95;0.62;2.36;0.62;0.62;2.36;2.36	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000118	T	0.57198	0.2037	L	0.38733	1.17	0.80722	D	1	P;B;P;B;D	0.71674	0.678;0.122;0.627;0.058;0.998	B;B;B;B;D	0.80764	0.361;0.233;0.247;0.169;0.994	T	0.51348	-0.8717	10	0.34782	T	0.22	.	13.6813	0.62487	0.0:0.9249:0.0:0.0751	.	258;258;258;237;237	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	V	237;237;237;273;258;258;258;237	ENSP00000423799:A237V;ENSP00000421011:A237V;ENSP00000421067:A237V;ENSP00000424722:A273V;ENSP00000378044:A258V;ENSP00000349588:A258V;ENSP00000264366:A258V	ENSP00000264366:A258V	A	+	2	0	ANK2	114381169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.044000	0.71012	2.740000	0.93945	0.650000	0.86243	GCT		0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		28	313	0	0	0	1	0	28	313				
LARS	51520	broad.mit.edu	37	5	145509704	145509704	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145509704G>A	ENST00000394434.2	-	25	2671	c.2505C>T	c.(2503-2505)taC>taT	p.Y835Y	LARS_ENST00000274562.9_Silent_p.Y808Y|LARS_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000545646.1_Silent_p.Y789Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	835					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCAATTCACGGTACTTATCTT	0.378																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(2503-2505)taC>taT		leucyl-tRNA synthetase	L-Leucine(DB00149)						97.0	89.0	91.0					5																	145509704		2203	4300	6503	SO:0001819	synonymous_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145509704G>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2505C>T	5.37:g.145509704G>A						LARS_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000545646.1_Silent_p.Y789Y|LARS_ENST00000274562.9_Silent_p.Y808Y	p.Y835Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	2671	-			835					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	c.2505C>T	CCDS34265.1																																																																																				0.378	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		61	353	0	0	0	1	0	61	353				
TNR	7143	broad.mit.edu	37	1	175332862	175332862	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175332862A>C	ENST00000367674.2	-	13	3397	c.2689T>G	c.(2689-2691)Tca>Gca	p.S897A	TNR_ENST00000263525.2_Missense_Mutation_p.S897A			Q92752	TENR_HUMAN	tenascin R	897	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCGATATGATACTCGGTAG	0.438																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(2689-2691)Tca>Gca		tenascin R							171.0	154.0	160.0					1																	175332862		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175332862A>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2689T>G	1.37:g.175332862A>C	ENSP00000356646:p.Ser897Ala					TNR_ENST00000263525.2_Missense_Mutation_p.S897A	p.S897A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			13	3397	-	Renal(580;0.146)		897			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2689T>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581674	0.46006	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56941	0.43;0.43	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.65677	2.01	0.52099	D	0.999948	B	0.06786	0.001	B	0.13407	0.009	T	0.41698	-0.9494	10	0.16420	T	0.52	.	10.905	0.47076	0.8432:0.1568:0.0:0.0	.	897	Q92752	TENR_HUMAN	A	897;897;807	ENSP00000356646:S897A;ENSP00000263525:S897A	ENSP00000263525:S897A	S	-	1	0	TNR	173599485	1.000000	0.71417	0.916000	0.36221	0.957000	0.61999	6.220000	0.72237	2.209000	0.71365	0.533000	0.62120	TCA		0.438	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		65	326	0	0	0	1	0	65	326				
DNAJC3	5611	broad.mit.edu	37	13	96443261	96443261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96443261A>G	ENST00000602402.1	+	12	1609	c.1492A>G	c.(1492-1494)Aga>Gga	p.R498G	DNAJC3_ENST00000376795.6_Missense_Mutation_p.R447G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	498					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CGGACCATTTAGATTTAAATT	0.418																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1492-1494)Aga>Gga		DnaJ (Hsp40) homolog, subfamily C, member 3							92.0	96.0	95.0					13																	96443261		2203	4300	6503	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96443261A>G	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1492A>G	13.37:g.96443261A>G	ENSP00000473631:p.Arg498Gly					DNAJC3_ENST00000376795.6_Missense_Mutation_p.R447G	p.R498G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		12	1609	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		498					Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.1492A>G	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077156	0.36662	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.63	-0.607	0.11615	.	0.190440	0.56097	D	0.000030	T	0.28764	0.0713	N	0.08118	0	0.27402	N	0.95481	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.21655	-1.0239	9	0.54805	T	0.06	-20.008	17.5413	0.87849	0.5106:0.4894:0.0:0.0	.	498;498	A8KA82;Q13217	.;DNJC3_HUMAN	G	498	.	ENSP00000365991:R498G	R	+	1	2	DNAJC3	95241262	0.905000	0.30787	0.938000	0.37757	0.856000	0.48823	0.912000	0.28597	-0.154000	0.11118	-1.256000	0.01477	AGA		0.418	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			44	471	0	0	0	1	0	44	471				
ZNF679	168417	broad.mit.edu	37	7	63727090	63727090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63727090C>A	ENST00000421025.1	+	5	1348	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D	ZNF679_ENST00000255746.4_Missense_Mutation_p.A360D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTGGGAAAGCCTTTGCCTTC	0.393																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(1078-1080)gCc>gAc		zinc finger protein 679							63.0	61.0	62.0					7																	63727090		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63727090C>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1079C>A	7.37:g.63727090C>A	ENSP00000416809:p.Ala360Asp					ZNF679_ENST00000255746.4_Missense_Mutation_p.A360D	p.A360D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1348	+			360						Missense_Mutation	SNP	ENST00000421025.1	37	c.1079C>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453002	0.26161	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.14266	2.52;2.52	0.859	0.859	0.19036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21590	0.0520	L	0.55990	1.75	0.25459	N	0.987939	D	0.54601	0.967	P	0.57057	0.812	T	0.10359	-1.0633	9	0.87932	D	0	.	4.6426	0.12556	0.0:0.5897:0.4102:0.0	.	360	Q8IYX0	ZN679_HUMAN	D	360	ENSP00000416809:A360D;ENSP00000255746:A360D	ENSP00000255746:A360D	A	+	2	0	ZNF679	63364525	0.000000	0.05858	0.642000	0.29436	0.643000	0.38383	-0.380000	0.07427	0.202000	0.20498	0.205000	0.17691	GCC		0.393	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		23	129	1	0	6.44725e-10	1	6.81304e-10	23	129				
TNFRSF13C	115650	broad.mit.edu	37	22	42321490	42321490	+	Missense_Mutation	SNP	G	G	T	rs151243201	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42321490G>T	ENST00000291232.3	-	3	480	c.436C>A	c.(436-438)Cct>Act	p.P146T	MIR378I_ENST00000582688.1_RNA|CTA-250D10.23_ENST00000566575.1_lincRNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	146					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				lung(2)|urinary_tract(1)	3						CCAGGAGGAGGCCAGGCAGGA	0.637																																						ENST00000291232.3																			0				lung(2)|urinary_tract(1)	3						c.(436-438)Cct>Act		tumor necrosis factor receptor superfamily, member 13C							64.0	65.0	65.0					22																	42321490		2203	4300	6503	SO:0001583	missense	115650					integral to membrane	receptor activity	g.chr22:42321490G>T	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.436C>A	22.37:g.42321490G>T	ENSP00000291232:p.Pro146Thr						p.P146T	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN			3	480	-			146						Missense_Mutation	SNP	ENST00000291232.3	37	c.436C>A	CCDS14024.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766959	0.69878	.	.	ENSG00000159958	ENST00000291232	T	0.36520	1.25	4.93	3.77	0.43336	.	0.259797	0.26944	N	0.021715	T	0.25606	0.0623	L	0.29908	0.895	0.34237	D	0.677158	P;P	0.40875	0.731;0.731	B;B	0.38428	0.273;0.273	T	0.40459	-0.9562	10	0.51188	T	0.08	0.6656	9.7503	0.40473	0.1094:0.0:0.8906:0.0	.	146;146	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	T	146	ENSP00000291232:P146T	ENSP00000291232:P146T	P	-	1	0	TNFRSF13C	40651436	0.922000	0.31269	0.822000	0.32727	0.704000	0.40688	1.135000	0.31454	1.214000	0.43395	0.655000	0.94253	CCT		0.637	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1			26	338	1	0	4.22769e-11	1	4.50498e-11	26	338				
HNRNPK	3190	broad.mit.edu	37	9	86585163	86585163	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86585163C>G	ENST00000376264.2	-	16	1533	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|HNRNPK_ENST00000376263.3_Missense_Mutation_p.E425D|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	425	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTTCTAAAGGCTCATCAATTT	0.408																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(1273-1275)gaG>gaC		heterogeneous nuclear ribonucleoprotein K							94.0	89.0	91.0					9																	86585163		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86585163C>G		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1275G>C	9.37:g.86585163C>G	ENSP00000365440:p.Glu425Asp					HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E425D	p.E425D	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			16	1498	-			425			KH 3.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.1275G>C	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783871	0.49891	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.33	-2.79	0.05841	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.12853	0.265	0.50632	D	0.999883	D;B;D;D;D;D;D;D	0.76494	0.998;0.166;0.999;0.999;0.999;0.997;0.998;0.999	D;P;D;D;D;D;D;D	0.85130	0.994;0.519;0.996;0.996;0.995;0.99;0.996;0.997	T	0.02251	-1.1188	10	0.38643	T	0.18	-5.7936	13.4098	0.60935	0.0:0.4477:0.0:0.5523	.	401;390;425;420;425;401;425;425	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	D	425;425;425;425;425;390;425;420	ENSP00000365458:E425D;ENSP00000365440:E425D;ENSP00000365439:E425D;ENSP00000317788:E425D;ENSP00000353552:E425D	ENSP00000317788:E425D	E	-	3	2	HNRNPK	85774983	0.469000	0.25846	0.981000	0.43875	0.996000	0.88848	-0.281000	0.08456	-0.480000	0.06803	0.591000	0.81541	GAG		0.408	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			50	273	0	0	0	1	0	50	273				
CKAP4	10970	broad.mit.edu	37	12	106633726	106633726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106633726C>A	ENST00000378026.4	-	2	1021	c.885G>T	c.(883-885)gaG>gaT	p.E295D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	295						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGTCTGTATCTCCTTCACAG	0.522																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(883-885)gaG>gaT		cytoskeleton-associated protein 4							148.0	149.0	148.0					12																	106633726		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633726C>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.885G>T	12.37:g.106633726C>A	ENSP00000367265:p.Glu295Asp					CKAP4_ENST00000552828.1_5'UTR	p.E295D	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1021	-			295					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.885G>T	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	9.626	1.135179	0.21123	.	.	ENSG00000136026	ENST00000378026	T	0.81415	-1.49	5.54	0.0734	0.14390	.	0.267058	0.41823	D	0.000806	D	0.82756	0.5106	M	0.75264	2.295	0.23138	N	0.998234	D	0.55385	0.971	P	0.55749	0.783	T	0.73920	-0.3830	10	0.35671	T	0.21	-5.3382	8.4601	0.32923	0.0:0.6124:0.1457:0.2418	.	295	Q07065	CKAP4_HUMAN	D	295	ENSP00000367265:E295D	ENSP00000367265:E295D	E	-	3	2	CKAP4	105157856	0.003000	0.15002	0.052000	0.19188	0.711000	0.40976	-0.444000	0.06854	-0.221000	0.09973	-0.253000	0.11424	GAG		0.522	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			145	676	1	0	1.02229e-66	1	1.29409e-66	145	676				
TNC	3371	broad.mit.edu	37	9	117846513	117846513	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846513A>C	ENST00000350763.4	-	4	2517	c.2106T>G	c.(2104-2106)atT>atG	p.I702M	TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M|TNC_ENST00000537320.1_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	702	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGCTGACAGGAATGCTCTTCT	0.577																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2104-2106)atT>atG		tenascin C							90.0	84.0	86.0					9																	117846513		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846513A>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2106T>G	9.37:g.117846513A>C	ENSP00000265131:p.Ile702Met					TNC_ENST00000537320.1_Missense_Mutation_p.I702M|TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M|TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M	p.I702M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			4	2517	-			702			Fibronectin type-III 1.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2106T>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399001	0.62177	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.53857	3.62;0.6;3.62;0.6;0.6;0.6;0.6;0.6;0.6	5.93	0.837	0.18896	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148317	0.64402	D	0.000010	T	0.64692	0.2621	M	0.63428	1.95	0.47308	D	0.999389	D;D	0.71674	0.998;0.996	D;D	0.76575	0.988;0.988	T	0.63492	-0.6625	10	0.62326	D	0.03	.	10.121	0.42621	0.6001:0.0:0.3999:0.0	.	702;702	E9PC84;P24821	.;TENA_HUMAN	M	702	ENSP00000344400:I702M;ENSP00000438152:I702M;ENSP00000344555:I702M;ENSP00000345861:I702M;ENSP00000265131:I702M;ENSP00000339553:I702M;ENSP00000411406:I702M;ENSP00000443478:I702M;ENSP00000442242:I702M	ENSP00000344400:I702M	I	-	3	3	TNC	116886334	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	0.856000	0.27818	0.146000	0.19002	0.533000	0.62120	ATT		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		59	311	0	0	0	1	0	59	311				
ICOSLG	23308	broad.mit.edu	37	21	45657062	45657062	+	Missense_Mutation	SNP	C	C	T	rs368372298		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45657062C>T	ENST00000407780.3	-	3	221	c.94G>A	c.(94-96)Gac>Aac	p.D32N	ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	32	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AGCTCCACGTCGCTGCCTACC	0.498																																						ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(94-96)Gac>Aac		inducible T-cell co-stimulator ligand							76.0	83.0	81.0					21																	45657062		2085	4227	6312	SO:0001583	missense	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45657062C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.94G>A	21.37:g.45657062C>T	ENSP00000384432:p.Asp32Asn					ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N	p.D32N			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	221	-			32			Ig-like V-type.		A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	c.94G>A	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717906	0.15372	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.62232	0.04;0.04;0.04	4.68	-4.85	0.03142	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.445410	0.04345	N	0.354666	T	0.41971	0.1182	N	0.21373	0.66	0.09310	N	1	B;B	0.34147	0.438;0.438	B;B	0.26310	0.068;0.068	T	0.24584	-1.0156	10	0.12430	T	0.62	.	12.777	0.57455	0.0:0.2087:0.0:0.7913	.	32;32	A0N0L8;O75144	.;ICOSL_HUMAN	N	32	ENSP00000339477:D32N;ENSP00000384432:D32N;ENSP00000383230:D32N	ENSP00000339477:D32N	D	-	1	0	ICOSLG	44481490	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.503000	0.06383	-1.045000	0.03250	-0.150000	0.13652	GAC		0.498	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		41	338	0	0	0	1	0	41	338				
SPTBN4	57731	broad.mit.edu	37	19	41019444	41019444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41019444C>T	ENST00000352632.3	+	14	2834	c.2748C>T	c.(2746-2748)gtC>gtT	p.V916V	SPTBN4_ENST00000598249.1_Silent_p.V916V|SPTBN4_ENST00000338932.3_Silent_p.V916V|SPTBN4_ENST00000344104.3_Silent_p.V916V|SPTBN4_ENST00000595535.1_Silent_p.V916V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	916					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGACGACGTCGAGGTGGTGC	0.602																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(2746-2748)gtC>gtT		spectrin, beta, non-erythrocytic 4							24.0	14.0	18.0					19																	41019444		2198	4296	6494	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41019444C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2748C>T	19.37:g.41019444C>T						SPTBN4_ENST00000598249.1_Silent_p.V916V|SPTBN4_ENST00000595535.1_Silent_p.V916V|SPTBN4_ENST00000338932.3_Silent_p.V916V|SPTBN4_ENST00000344104.3_Silent_p.V916V	p.V916V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		14	2834	+			916					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.2748C>T	CCDS12559.1																																																																																				0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			7	72	0	0	0	1	0	7	72				
IGKV6D-41	28869	broad.mit.edu	37	2	90109027	90109027	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:90109027C>A	ENST00000390271.2	+	0	318									immunoglobulin kappa variable 6D-41 (non-functional)																		CATCAGTAGCCTGGAAGCTGA	0.498																																						ENST00000390271.2																			0																				85.0	88.0	87.0					2																	90109027		1923	4142	6065			0							g.chr2:90109027C>A	X12688		2p11.2	2012-02-10	2008-09-10		ENSG00000211626	ENSG00000211626		"""Immunoglobulins / IGK locus"""	5838	other	immunoglobulin gene			"""immunoglobulin kappa variable 6D-41"""				Standard	NG_000833		Approved				OTTHUMG00000151621		2.37:g.90109027C>A														0	318	+									RNA	SNP	ENST00000390271.2	37																																																																																						0.498	IGKV6D-41-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323293.1	NG_000833		15	414	1	0	6.31663e-08	1	6.57865e-08	15	414				
DCHS1	8642	broad.mit.edu	37	11	6652301	6652301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6652301G>T	ENST00000299441.3	-	9	4324	c.3913C>A	c.(3913-3915)Ctc>Atc	p.L1305I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1305	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAGCTGGAGGCTGGCACTT	0.617																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3913-3915)Ctc>Atc		dachsous cadherin-related 1							35.0	28.0	31.0					11																	6652301		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6652301G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3913C>A	11.37:g.6652301G>T	ENSP00000299441:p.Leu1305Ile					RP11-732A19.6_ENST00000526633.1_RNA	p.L1305I	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	9	4324	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1305			Cadherin 12.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3913C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792351	0.16258	.	.	ENSG00000166341	ENST00000299441	T	0.53423	0.62	4.73	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.000000	0.35407	N	0.003226	T	0.30039	0.0752	N	0.17631	0.505	0.25427	N	0.988219	B	0.12013	0.005	B	0.16289	0.015	T	0.13953	-1.0490	10	0.18710	T	0.47	.	11.1874	0.48664	0.0:0.0:0.8158:0.1842	.	1305	Q96JQ0	PCD16_HUMAN	I	1305	ENSP00000299441:L1305I	ENSP00000299441:L1305I	L	-	1	0	DCHS1	6608877	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	1.122000	0.31295	1.185000	0.42971	0.467000	0.42956	CTC		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	135	1	0	2.62699e-14	1	2.8508e-14	13	135				
ABCA12	26154	broad.mit.edu	37	2	215838750	215838750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215838750C>A	ENST00000272895.7	-	36	5704	c.5485G>T	c.(5485-5487)Gac>Tac	p.D1829Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1829					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAGACTGTCTTTGTTTAAA	0.373																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(5485-5487)Gac>Tac		ATP-binding cassette, sub-family A (ABC1), member 12							225.0	200.0	208.0					2																	215838750		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215838750C>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5485G>T	2.37:g.215838750C>A	ENSP00000272895:p.Asp1829Tyr					ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	p.D1829Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	36	5704	-		Renal(323;0.127)	1829					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.5485G>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113260	0.20795	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89123	-2.47;-2.46	5.51	-1.58	0.08479	.	1.268040	0.05120	N	0.490566	D	0.86188	0.5873	N	0.24115	0.695	0.09310	N	1	P;P	0.45240	0.854;0.744	P;P	0.49999	0.628;0.495	T	0.76833	-0.2813	10	0.66056	D	0.02	.	9.9501	0.41634	0.0:0.5154:0.0:0.4846	.	1829;1511	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1829;1511	ENSP00000272895:D1829Y;ENSP00000374312:D1511Y	ENSP00000272895:D1829Y	D	-	1	0	ABCA12	215546995	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.124000	0.15728	-0.409000	0.07553	0.557000	0.71058	GAC		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		50	245	1	0	6.08268e-21	1	6.83416e-21	50	245				
PKP2	5318	broad.mit.edu	37	12	33003785	33003785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33003785C>A	ENST00000070846.6	-	5	1317	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F	PKP2_ENST00000340811.4_Missense_Mutation_p.L431F	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	431					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGCCACCTCCAATTTGTTGT	0.448																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1291-1293)ttG>ttT		plakophilin 2							129.0	127.0	127.0					12																	33003785		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33003785C>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1293G>T	12.37:g.33003785C>A	ENSP00000070846:p.Leu431Phe					PKP2_ENST00000070846.6_Missense_Mutation_p.L431F	p.L431F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			5	1401	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		431					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1293G>T	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809063	0.70797	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.69685	-0.42;0.75	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.204716	0.42682	D	0.000676	T	0.78916	0.4359	M	0.70595	2.14	0.58432	D	0.999999	D;D;D	0.71674	0.997;0.998;0.995	D;D;P	0.68483	0.929;0.958;0.894	T	0.80867	-0.1190	10	0.62326	D	0.03	-6.8743	13.0312	0.58842	0.1612:0.8388:0.0:0.0	.	431;431;431	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	F	431	ENSP00000342800:L431F;ENSP00000070846:L431F	ENSP00000070846:L431F	L	-	3	2	PKP2	32895052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.556000	0.45862	2.319000	0.78375	0.462000	0.41574	TTG		0.448	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		96	364	1	0	1.16068e-44	1	1.42057e-44	96	364				
ADAM21	8747	broad.mit.edu	37	14	70924986	70924986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70924986G>A	ENST00000603540.1	+	2	1028	c.770G>A	c.(769-771)gGa>gAa	p.G257E	ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	257	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTTTGATTGGAATTGAAATT	0.363																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(769-771)gGa>gAa		ADAM metallopeptidase domain 21							57.0	63.0	61.0					14																	70924986		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924986G>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.770G>A	14.37:g.70924986G>A	ENSP00000474385:p.Gly257Glu					ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E|RP11-486O13.4_ENST00000556646.1_lincRNA	p.G257E	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1028	+			257			Peptidase M12B.		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.770G>A	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992807	0.18966	.	.	ENSG00000139985	ENST00000267499	T	0.11385	2.78	3.86	0.557	0.17260	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.44902	D	0.000420	T	0.34279	0.0892	M	0.91406	3.205	0.09310	N	0.999999	D	0.71674	0.998	D	0.79784	0.993	T	0.07501	-1.0769	10	0.87932	D	0	.	8.2495	0.31708	0.0:0.1501:0.5415:0.3084	.	257	Q9UKJ8	ADA21_HUMAN	E	257	ENSP00000267499:G257E	ENSP00000267499:G257E	G	+	2	0	ADAM21	69994739	0.419000	0.25449	0.985000	0.45067	0.259000	0.26198	0.817000	0.27281	0.365000	0.24400	-0.321000	0.08615	GGA		0.363	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			18	409	0	0	0	1	0	18	409				
ANKRD13D	338692	broad.mit.edu	37	11	67068443	67068443	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67068443C>A	ENST00000447274.2	+	11	1987				ANKRD13D_ENST00000308440.6_Intron|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000514166.1_Intron|SSH3_ENST00000308127.4_5'Flank|ANKRD13D_ENST00000511455.2_Intron|ANKRD13D_ENST00000515828.1_Silent_p.S2S			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D							endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACCCATGTCCTGTGGTCGGC	0.627																																						ENST00000515828.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(4-6)tcC>tcA		ankyrin repeat domain 13 family, member D							73.0	58.0	63.0					11																	67068443		2200	4295	6495	SO:0001627	intron_variant	338692							g.chr11:67068443C>A	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.813-18C>A	11.37:g.67068443C>A						ANKRD13D_ENST00000511455.2_Intron|ANKRD13D_ENST00000308440.6_Intron|ANKRD13D_ENST00000447274.2_Intron|ANKRD13D_ENST00000514166.1_Intron	p.S2S			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		1	197	+			0					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	ENST00000447274.2	37	c.6C>A																																																																																					0.627	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		32	127	1	0	6.00712e-18	1	6.65163e-18	32	127				
RTN1	6252	broad.mit.edu	37	14	60074020	60074020	+	Silent	SNP	G	G	A	rs113101447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60074020G>A	ENST00000267484.5	-	4	2291	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	RTN1_ENST00000395090.1_Silent_p.D69D|RTN1_ENST00000342503.4_Silent_p.D84D|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	652	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTGGCCTTCGTCGGTTTTCT	0.562													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18774	0.0		0.0	False		,,,				2504	0.0					ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1954-1956)gaC>gaT		reticulon 1		G	,,	15,4391	22.3+/-47.3	0,15,2188	71.0	62.0	65.0		1956,252,696	-0.4	1.0	14	dbSNP_132	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RTN1	NM_021136.2,NM_206852.2,NM_206857.1	,,	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	,,	652/777,84/209,232/357	60074020	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60074020G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1956C>T	14.37:g.60074020G>A						RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Silent_p.D84D|RTN1_ENST00000395090.1_Silent_p.D69D	p.D652D	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	4	2291	-			652			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	c.1956C>T	CCDS9740.1																																																																																				0.562	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			28	121	0	0	0	1	0	28	121				
PUM2	23369	broad.mit.edu	37	2	20511261	20511261	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20511261T>G	ENST00000361078.2	-	4	534	c.512A>C	c.(511-513)gAt>gCt	p.D171A	PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A|PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000420234.1_Intron			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	171	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTAAAATCTTTGCAATC	0.323																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(511-513)gAt>gCt		pumilio RNA-binding family member 2							93.0	92.0	93.0					2																	20511261		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20511261T>G	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.512A>C	2.37:g.20511261T>G	ENSP00000354370:p.Asp171Ala					PUM2_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A	p.D171A			Q8TB72	PUM2_HUMAN			4	534	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		171			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.512A>C		.	.	.	.	.	.	.	.	.	.	T	25.8	4.672316	0.88348	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.21361	2.3;2.57;2.52;2.01;2.3;2.27	5.84	5.84	0.93424	.	0.041485	0.85682	D	0.000000	T	0.41534	0.1163	L	0.58101	1.795	0.80722	D	1	P;B;D	0.65815	0.944;0.295;0.995	P;B;P	0.62014	0.698;0.091;0.897	T	0.19712	-1.0297	10	0.62326	D	0.03	-6.8791	16.2055	0.82126	0.0:0.0:0.0:1.0	.	115;171;171	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	A	171;171;171;62;171;115;171	ENSP00000338173:D171A;ENSP00000354370:D171A;ENSP00000326746:D171A;ENSP00000409905:D62A;ENSP00000385992:D171A;ENSP00000440093:D115A	ENSP00000326746:D171A	D	-	2	0	PUM2	20374742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.220000	0.72140	0.533000	0.62120	GAT		0.323	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		28	208	0	0	0	1	0	28	208				
SLC2A3	6515	broad.mit.edu	37	12	8083913	8083913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083913C>T	ENST00000075120.7	-	4	678	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	146					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAGTAGGCGAGATCTCTC	0.517																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(436-438)tcG>tcA		solute carrier family 2 (facilitated glucose transporter), member 3							90.0	84.0	86.0					12																	8083913		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083913C>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.438G>A	12.37:g.8083913C>T							p.S146S	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	4	678	-			146					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.438G>A	CCDS8586.1																																																																																				0.517	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		57	304	0	0	0	1	0	57	304				
CAPN3	825	broad.mit.edu	37	15	42702663	42702663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42702663A>G	ENST00000397163.3	+	20	2372	c.2153A>G	c.(2152-2154)cAc>cGc	p.H718R	CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R|CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	718	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGGAGTTCCACCACCTCTGG	0.537																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(2152-2154)cAc>cGc		calpain 3, (p94)							98.0	103.0	102.0					15																	42702663		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42702663A>G	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2153A>G	15.37:g.42702663A>G	ENSP00000380349:p.His718Arg					CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R|RP11-164J13.1_ENST00000495723.1_RNA	p.H718R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	20	2372	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	718			Domain IV.|EF-hand 2.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.2153A>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843131	0.32606	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.72	4.72	0.59763	EF-hand-like domain (1);	0.225090	0.35646	U	0.003074	T	0.48607	0.1509	N	0.01686	-0.76	0.32931	D	0.517108	B;B;B;B;B;B;B	0.11235	0.002;0.004;0.001;0.002;0.003;0.002;0.0	B;B;B;B;B;B;B	0.11329	0.004;0.006;0.006;0.002;0.003;0.001;0.006	T	0.53387	-0.8446	10	0.11485	T	0.65	.	9.2716	0.37675	0.9082:0.0:0.0918:0.0	.	583;631;53;626;712;718;625	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	R	625;206;718;712;626;712;206;53;53	ENSP00000348667:H625R;ENSP00000380349:H718R;ENSP00000350181:H712R;ENSP00000183936:H626R;ENSP00000326281:H712R;ENSP00000380384:H206R;ENSP00000336840:H53R;ENSP00000380387:H53R	ENSP00000326281:H712R	H	+	2	0	CAPN3	40489955	0.930000	0.31532	0.998000	0.56505	0.653000	0.38743	1.396000	0.34531	1.992000	0.58205	0.460000	0.39030	CAC		0.537	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			103	355	0	0	0	1	0	103	355				
CHD9	80205	broad.mit.edu	37	16	53190488	53190488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53190488G>A	ENST00000398510.3	+	1	574	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	CHD9_ENST00000566029.1_Missense_Mutation_p.A163T|CHD9_ENST00000564845.1_Missense_Mutation_p.A163T|CHD9_ENST00000447540.1_Missense_Mutation_p.A163T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	163					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCATGACTTTGCCTTATTTCA	0.398																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(487-489)Gcc>Acc		chromodomain helicase DNA binding protein 9							86.0	84.0	84.0					16																	53190488		1931	4140	6071	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190488G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.487G>A	16.37:g.53190488G>A	ENSP00000381522:p.Ala163Thr					CHD9_ENST00000447540.1_Missense_Mutation_p.A163T|CHD9_ENST00000564845.1_Missense_Mutation_p.A163T|CHD9_ENST00000398510.3_Missense_Mutation_p.A163T	p.A163T			Q3L8U1	CHD9_HUMAN			2	696	+		all_cancers(37;0.0212)	163					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	10.23	1.294011	0.23564	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86230	-2.01;-2.09	5.86	3.92	0.45320	.	0.194774	0.35805	N	0.002969	T	0.79347	0.4430	L	0.31294	0.92	0.32306	N	0.564381	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.004;0.002;0.006;0.004	T	0.76971	-0.2761	10	0.49607	T	0.09	-0.801	10.0684	0.42317	0.2052:0.0:0.7948:0.0	.	163;163;163;163	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	T	163	ENSP00000396345:A163T;ENSP00000381522:A163T	ENSP00000381522:A163T	A	+	1	0	CHD9	51747989	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.221000	0.51215	0.829000	0.34733	-0.145000	0.13849	GCC		0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		22	448	0	0	0	1	0	22	448				
NAP1L3	4675	broad.mit.edu	37	X	92928133	92928133	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:92928133G>T	ENST00000373079.3	-	1	434	c.171C>A	c.(169-171)ggC>ggA	p.G57G	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.G50G|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	57	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						tgctgccgctgccgctgctgc	0.617																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(169-171)ggC>ggA		nucleosome assembly protein 1-like 3							9.0	10.0	10.0					X																	92928133		2073	3962	6035	SO:0001819	synonymous_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928133G>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.171C>A	X.37:g.92928133G>T						NAP1L3_ENST00000475430.1_5'UTR	p.G57G	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	434	-			57			Ser-rich.		B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	c.171C>A	CCDS14465.1																																																																																				0.617	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		6	158	1	0	0.00116845	1	0.00118049	6	158				
ZNF433	163059	broad.mit.edu	37	19	12125671	12125671	+	Missense_Mutation	SNP	C	C	A	rs190101419		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125671C>A	ENST00000344980.6	-	4	2181	c.2011G>T	c.(2011-2013)Gac>Tac	p.D671Y	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.D636Y	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						tatgggGTGTCTATGCAGTGA	0.478																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1906-1908)Gac>Tac		zinc finger protein 433							40.0	42.0	42.0					19																	12125671		2103	4228	6331	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125671C>A	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.2011G>T	19.37:g.12125671C>A	ENSP00000339767:p.Asp671Tyr					CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.D671Y|CTD-2006C1.2_ENST00000495324.1_RNA	p.D636Y			Q8N7K0	ZN433_HUMAN			5	2197	-			671					Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.1906G>T	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743643	0.15642	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.07021	3.23;3.35	0.839	-0.352	0.12598	Zinc finger, C2H2 (1);	.	.	.	.	T	0.07413	0.0187	L	0.50847	1.595	0.09310	N	1	B	0.28713	0.22	B	0.23018	0.043	T	0.31503	-0.9941	9	0.87932	D	0	.	4.5031	0.11874	0.0:0.7341:0.0:0.2659	.	671	Q8N7K0	ZN433_HUMAN	Y	636;671	ENSP00000393416:D636Y;ENSP00000339767:D671Y	ENSP00000339767:D671Y	D	-	1	0	ZNF433	11986671	0.121000	0.22262	0.000000	0.03702	0.172000	0.22775	0.868000	0.27982	-0.104000	0.12154	0.313000	0.20887	GAC		0.478	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		13	44	1	0	0.00010058	1	0.000102273	13	44				
CRYBB2	1415	broad.mit.edu	37	22	25627693	25627693	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25627693G>A	ENST00000398215.2	+	6	743	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	191	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGCCGTATCCGCGACATGCAG	0.652																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(571-573)cGc>cAc		crystallin, beta B2							108.0	86.0	93.0					22																	25627693		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627693G>A		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.572G>A	22.37:g.25627693G>A	ENSP00000381273:p.Arg191His						p.R191H	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			6	743	+			191			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.572G>A	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863202	0.32884	.	.	ENSG00000244752	ENST00000398215	T	0.76316	-1.01	3.98	3.98	0.46160	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.057317	0.64402	D	0.000002	T	0.76842	0.4044	M	0.83692	2.655	0.58432	D	0.999999	P	0.43750	0.816	B	0.36030	0.216	T	0.79888	-0.1613	10	0.36615	T	0.2	.	15.0574	0.71925	0.0:0.0:1.0:0.0	.	191	P43320	CRBB2_HUMAN	H	191	ENSP00000381273:R191H	ENSP00000381273:R191H	R	+	2	0	CRYBB2	23957693	1.000000	0.71417	0.955000	0.39395	0.003000	0.03518	5.905000	0.69893	1.763000	0.52060	0.462000	0.41574	CGC		0.652	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		100	542	0	0	0	1	0	100	542				
WTAP	9589	broad.mit.edu	37	6	160164713	160164713	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160164713C>A	ENST00000358372.4	+	5	1919	c.162C>A	c.(160-162)ggC>ggA	p.G54G	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.G54G	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	54					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATGTAACTGGCCTAAGAGAGT	0.368																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(160-162)ggC>ggA		Wilms tumor 1 associated protein							54.0	54.0	54.0					6																	160164713		2203	4300	6503	SO:0001819	synonymous_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160164713C>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.162C>A	6.37:g.160164713C>A						SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.G54G	p.G54G	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	5	1919	+		Breast(66;0.000776)|Ovarian(120;0.0303)	54					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	c.162C>A	CCDS5266.1																																																																																				0.368	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		6	260	1	0	0.217242	1	0.217458	6	260				
ARPC2	10109	broad.mit.edu	37	2	219103454	219103454	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219103454A>C	ENST00000295685.10	+	5	597	c.336A>C	c.(334-336)caA>caC	p.Q112H	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	112					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTGTGCATCAAGCTGGCATGT	0.403																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(334-336)caA>caC		actin related protein 2/3 complex, subunit 2, 34kDa							145.0	145.0	145.0					2																	219103454		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219103454A>C	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.336A>C	2.37:g.219103454A>C	ENSP00000295685:p.Gln112His					ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H	p.Q112H	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	5	597	+		Renal(207;0.0474)	112					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.336A>C	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437524	0.43224	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.45137	1.4	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35201	-0.9798	9	0.52906	T	0.07	.	8.7287	0.34485	0.3803:0.0:0.6197:0.0	.	112	O15144	ARPC2_HUMAN	H	112	.	ENSP00000295685:Q112H	Q	+	3	2	ARPC2	218811699	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.991000	0.49409	0.325000	0.23359	-0.376000	0.06991	CAA		0.403	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		238	688	0	0	0	1	0	238	688				
MALAT1	378938	broad.mit.edu	37	11	65269859	65269859	+	lincRNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65269859T>C	ENST00000534336.1	+	0	4627					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GCTTTTGTATTATCAAGTAAG	0.308																																						ENST00000534336.1																			0																				22.0	23.0	23.0					11																	65269859		874	1988	2862			0							g.chr11:65269859T>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269859T>C								NR_002819.2						0	4627	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.308	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		6	77	0	0	0	1	0	6	77				
HINFP	25988	broad.mit.edu	37	11	119003275	119003275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003275G>A	ENST00000350777.2	+	6	809	c.746G>A	c.(745-747)cGc>cAc	p.R249H	HINFP_ENST00000527410.1_Missense_Mutation_p.R249H	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	249					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCACATGCGCAACCATGGT	0.582																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(745-747)cGc>cAc		histone H4 transcription factor							104.0	98.0	100.0					11																	119003275		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003275G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.746G>A	11.37:g.119003275G>A	ENSP00000318085:p.Arg249His					HINFP_ENST00000527410.1_Missense_Mutation_p.R249H	p.R249H	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			6	809	+			249					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.746G>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015527	0.93404	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.02085	4.46;4.46	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.00038	-1.2244	10	0.87932	D	0	-29.5397	18.6818	0.91548	0.0:0.0:1.0:0.0	.	249	Q9BQA5	HINFP_HUMAN	H	249	ENSP00000318085:R249H;ENSP00000436815:R249H	ENSP00000318085:R249H	R	+	2	0	HINFP	118508485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.971000	0.93419	2.665000	0.90641	0.655000	0.94253	CGC		0.582	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		100	469	0	0	0	1	0	100	469				
HOXA3	3200	broad.mit.edu	37	7	27147987	27147987	+	Silent	SNP	C	C	T	rs199930483	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147987C>T	ENST00000396352.4	-	3	1078	c.879G>A	c.(877-879)tcG>tcA	p.S293S	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Silent_p.S293S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	293					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGGCGGGGGCGACTGGGGCT	0.706																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(877-879)tcG>tcA		homeobox A3							29.0	35.0	33.0					7																	27147987		2202	4298	6500	SO:0001819	synonymous_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147987C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.879G>A	7.37:g.27147987C>T						HOXA3_ENST00000317201.2_Silent_p.S293S|HOXA-AS2_ENST00000518088.1_RNA	p.S293S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1078	-			293					A4D181	Silent	SNP	ENST00000396352.4	37	c.879G>A	CCDS5404.1																																																																																				0.706	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			69	280	0	0	0	1	0	69	280				
NCDN	23154	broad.mit.edu	37	1	36028103	36028103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36028103G>A	ENST00000373243.2	+	4	1637	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	NCDN_ENST00000356090.4_Silent_p.L418L|NCDN_ENST00000373253.3_Silent_p.L401L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	418					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCAGCTGCTGCCCTTCCTCG	0.632																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1252-1254)ctG>ctA		neurochondrin							138.0	114.0	122.0					1																	36028103		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028103G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1254G>A	1.37:g.36028103G>A						NCDN_ENST00000356090.4_Silent_p.L418L|NCDN_ENST00000373253.3_Silent_p.L401L	p.L418L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			4	1637	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	418					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1254G>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284619	0.23392	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.8	3.89	0.44902	.	.	.	.	.	T	0.60327	0.2260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57705	-0.7765	4	.	.	.	.	10.1781	0.42950	0.0909:0.0:0.9091:0.0	.	.	.	.	Y	12	.	.	C	+	2	0	NCDN	35800690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.389000	0.44407	1.257000	0.44085	0.561000	0.74099	TGC		0.632	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		29	217	0	0	0	1	0	29	217				
TMSB10	9168	broad.mit.edu	37	2	85133188	85133188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85133188C>T	ENST00000233143.4	+	2	156	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	16					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)	1						TTCGATAAGGCCAAGCTGAAG	0.582																																						ENST00000233143.4																			0				endometrium(1)	1						c.(46-48)gCc>gTc		thymosin beta 10							67.0	69.0	68.0					2																	85133188		2203	4300	6503	SO:0001583	missense	9168				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chr2:85133188C>T		CCDS1970.1	2p11.2	2008-02-25	2008-02-25		ENSG00000034510	ENSG00000034510			11879	protein-coding gene	gene with protein product		188399				3365256, 10487837	Standard	NM_021103		Approved	TB10	uc002sow.1	P63313	OTTHUMG00000130027	ENST00000233143.4:c.47C>T	2.37:g.85133188C>T	ENSP00000233143:p.Ala16Val						p.A16V	NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN			2	156	+			16					P13472|Q596K9	Missense_Mutation	SNP	ENST00000233143.4	37	c.47C>T	CCDS1970.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516068	0.64634	.	.	ENSG00000034510	ENST00000233143	T	0.47177	0.85	5.3	5.3	0.74995	.	0.158802	0.40908	D	0.000995	T	0.43590	0.1254	.	.	.	0.40631	D	0.981859	P	0.38300	0.626	B	0.37650	0.255	T	0.42999	-0.9418	9	0.42905	T	0.14	.	16.4497	0.83976	0.0:1.0:0.0:0.0	.	16	P63313	TYB10_HUMAN	V	16	ENSP00000233143:A16V	ENSP00000233143:A16V	A	+	2	0	TMSB10	84986699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.760000	0.55235	2.486000	0.83907	0.561000	0.74099	GCC		0.582	TMSB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252302.2	NM_021103		27	213	0	0	0	1	0	27	213				
VSTM2A	222008	broad.mit.edu	37	7	54612463	54612463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54612463C>T	ENST00000407838.3	+	2	634	c.228C>T	c.(226-228)gcC>gcT	p.A76A	VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402613.3_Silent_p.A76A|VSTM2A_ENST00000302287.3_Silent_p.A76A	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	76	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATCCCGGGGCCGAGGGGGCCG	0.736																																						ENST00000302287.3																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(226-228)gcC>gcT		V-set and transmembrane domain containing 2A							13.0	16.0	15.0					7																	54612463		2194	4294	6488	SO:0001819	synonymous_variant	222008					extracellular region		g.chr7:54612463C>T	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.228C>T	7.37:g.54612463C>T						VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000407838.3_Silent_p.A76A|VSTM2A_ENST00000402613.3_Silent_p.A76A	p.A76A			Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		2	634	+			76			Ig-like V-type.		A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	37	c.228C>T	CCDS5512.2																																																																																				0.736	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		50	90	0	0	0	1	0	50	90				
GPKOW	27238	broad.mit.edu	37	X	48972297	48972297	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48972297C>T	ENST00000156109.5	-	8	1166	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	363						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AAACCGCACACGCAGGTCCCT	0.582																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(1087-1089)cGt>cAt		G patch domain and KOW motifs							69.0	57.0	61.0					X																	48972297		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48972297C>T	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.1088G>A	X.37:g.48972297C>T	ENSP00000156109:p.Arg363His						p.R363H	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			8	1166	-			363					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.1088G>A	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946815	0.53186	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.49	3.7	0.42460	.	0.176102	0.47093	N	0.000246	T	0.73024	0.3534	M	0.87900	2.915	0.37697	D	0.924083	D	0.89917	1.0	D	0.71656	0.974	T	0.73241	-0.4045	9	0.23302	T	0.38	-2.0599	7.6099	0.28124	0.163:0.7496:0.0:0.0874	.	363	Q92917	GPKOW_HUMAN	H	363	.	ENSP00000156109:R363H	R	-	2	0	GPKOW	48859241	0.980000	0.34600	0.132000	0.22025	0.518000	0.34316	2.514000	0.45503	0.593000	0.29745	-0.217000	0.12591	CGT		0.582	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		41	118	0	0	0	1	0	41	118				
FAT3	120114	broad.mit.edu	37	11	92534276	92534276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534276G>A	ENST00000298047.6	+	9	8114	c.8097G>A	c.(8095-8097)ttG>ttA	p.L2699L	FAT3_ENST00000525166.1_Silent_p.L2549L|FAT3_ENST00000409404.2_Silent_p.L2699L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2699	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCACGTCTTGCCCCCTGAAA	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8095-8097)ttG>ttA		FAT atypical cadherin 3							70.0	66.0	67.0					11																	92534276		1960	4149	6109	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534276G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8097G>A	11.37:g.92534276G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.L2699L|FAT3_ENST00000525166.1_Silent_p.L2549L	p.L2699L			Q8TDW7	FAT3_HUMAN			9	8114	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2699			Cadherin 24.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8097G>A																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		28	165	0	0	0	1	0	28	165				
ATXN2L	11273	broad.mit.edu	37	16	28837664	28837664	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28837664T>G	ENST00000336783.4	+	5	736	c.569T>G	c.(568-570)gTc>gGc	p.V190G	ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	190					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAAGTGATGTCATGCTTGTT	0.507																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(568-570)gTc>gGc		ataxin 2-like							247.0	202.0	217.0					16																	28837664		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28837664T>G		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.569T>G	16.37:g.28837664T>G	ENSP00000338718:p.Val190Gly					ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G	p.V190G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			5	736	+			190					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.569T>G	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	28.8	4.948541	0.92593	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52057	0.7;0.68;0.69;0.7;0.69	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	T	0.64260	0.2582	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D;D	0.74023	0.969;0.929;0.982;0.982;0.969;0.969;0.982;0.969	T	0.66945	-0.5795	10	0.87932	D	0	-16.5268	15.0745	0.72066	0.0:0.0:0.0:1.0	.	190;190;190;190;190;190;190;190	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	G	190	ENSP00000341459:V190G;ENSP00000378917:V190G;ENSP00000338718:V190G;ENSP00000372133:V190G;ENSP00000315650:V190G	ENSP00000315650:V190G	V	+	2	0	ATXN2L	28745165	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.597000	0.82733	2.201000	0.70794	0.459000	0.35465	GTC		0.507	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		85	431	0	0	0	1	0	85	431				
ZNF804B	219578	broad.mit.edu	37	7	88963589	88963589	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:88963589A>G	ENST00000333190.4	+	4	1902	c.1293A>G	c.(1291-1293)gcA>gcG	p.A431A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	431							metal ion binding (GO:0046872)	p.A431A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAAGAAGCATGTACCCATA	0.388										HNSCC(36;0.09)																												ENST00000333190.4																			1	Substitution - coding silent(1)	p.A431A(1)	lung(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1291-1293)gcA>gcG		zinc finger protein 804B							64.0	65.0	65.0					7																	88963589		2201	4299	6500	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963589A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1293A>G	7.37:g.88963589A>G		HNSCC(36;0.09)					p.A431A	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1902	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		431					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1293A>G	CCDS5613.1																																																																																				0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		69	288	0	0	0	1	0	69	288				
TACR1	6869	broad.mit.edu	37	2	75425831	75425831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425831G>A	ENST00000305249.5	-	1	995	c.230C>T	c.(229-231)gCg>gTg	p.A77V	TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	77					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGGCCTCCGCGAAGGCCAG	0.502																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(229-231)gCg>gTg		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						166.0	140.0	149.0					2																	75425831		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425831G>A	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.230C>T	2.37:g.75425831G>A	ENSP00000303522:p.Ala77Val					TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	p.A77V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	995	-			77					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.230C>T	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172573	0.94807	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.79454	-1.27;-1.27	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91616	0.5307	10	0.87932	D	0	.	16.9498	0.86242	0.0:0.0:1.0:0.0	.	77	P25103	NK1R_HUMAN	V	77	ENSP00000303522:A77V;ENSP00000386448:A77V	ENSP00000303522:A77V	A	-	2	0	TACR1	75279339	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	9.595000	0.98260	2.854000	0.98071	0.655000	0.94253	GCG		0.502	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		52	290	0	0	0	1	0	52	290				
LBP	3929	broad.mit.edu	37	20	36982727	36982727	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36982727A>C	ENST00000217407.2	+	4	573	c.412A>C	c.(412-414)Att>Ctt	p.I138L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	138					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGGCATCAGCATTTCGGTCAA	0.562																																						ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(412-414)Att>Ctt		lipopolysaccharide binding protein							107.0	91.0	97.0					20																	36982727		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36982727A>C		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.412A>C	20.37:g.36982727A>C	ENSP00000217407:p.Ile138Leu						p.I138L	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			4	573	+		Myeloproliferative disorder(115;0.00878)	138					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.412A>C	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.330310	0.60743	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07444	3.19	4.77	3.67	0.42095	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.077383	0.53938	D	0.000056	T	0.22282	0.0537	M	0.71581	2.175	0.36181	D	0.849435	D	0.62365	0.991	D	0.67382	0.951	T	0.09292	-1.0681	10	0.72032	D	0.01	-12.4181	7.303	0.26432	0.901:0.0:0.099:0.0	.	138	P18428	LBP_HUMAN	L	138	ENSP00000217407:I138L	ENSP00000217407:I138L	I	+	1	0	LBP	36416141	0.989000	0.36119	0.997000	0.53966	0.602000	0.36980	2.884000	0.48562	0.962000	0.38057	0.459000	0.35465	ATT		0.562	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		10	514	0	0	0	1	0	10	514				
EIF2AK4	440275	broad.mit.edu	37	15	40303495	40303495	+	Missense_Mutation	SNP	C	C	T	rs372621513	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40303495C>T	ENST00000263791.5	+	27	3750	c.3707C>T	c.(3706-3708)aCg>aTg	p.T1236M	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1236	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GAGAAGCTGACGAGGAGAGAA	0.373													C|||	6	0.00119808	0.0	0.0	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0061					ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(3706-3708)aCg>aTg		eukaryotic translation initiation factor 2 alpha kinase 4		C	MET/THR	0,3748		0,0,1874	109.0	110.0	110.0		3707	6.0	1.0	15		110	1,8219		0,1,4109	no	missense	EIF2AK4	NM_001013703.2	81	0,1,5983	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1236/1650	40303495	1,11967	1874	4110	5984	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40303495C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3707C>T	15.37:g.40303495C>T	ENSP00000263791:p.Thr1236Met					EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	p.T1236M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	27	3750	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1236			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.3707C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669489	0.88348	0.0	1.22E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.43294	0.95;0.95	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54536	-0.8279	10	0.42905	T	0.14	-15.7224	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1208;1236	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	M	1236;1208	ENSP00000263791:T1236M;ENSP00000372174:T1208M	ENSP00000263791:T1236M	T	+	2	0	EIF2AK4	38090787	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	6.554000	0.73923	2.835000	0.97688	0.650000	0.86243	ACG		0.373	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			30	99	0	0	0	1	0	30	99				
GCM2	9247	broad.mit.edu	37	6	10874435	10874435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874435C>T	ENST00000379491.4	-	5	1461	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	438					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAGAGGCTGCCCTGGTGACTG	0.557																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(1312-1314)agG>agA		glial cells missing homolog 2 (Drosophila)							44.0	44.0	44.0					6																	10874435		2203	4300	6503	SO:0001819	synonymous_variant	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874435C>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1314G>A	6.37:g.10874435C>T						SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.R438R	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			5	1461	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	438					D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	c.1314G>A	CCDS4517.1																																																																																				0.557	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			52	190	0	0	0	1	0	52	190				
MAML2	84441	broad.mit.edu	37	11	95712362	95712362	+	Missense_Mutation	SNP	G	G	A	rs372556150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95712362G>A	ENST00000524717.1	-	5	4505	c.3221C>T	c.(3220-3222)aCg>aTg	p.T1074M		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1074					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTTGATGCCCGTCCTCGACTG	0.507			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3220-3222)aCg>aTg		mastermind-like 2 (Drosophila)		G	MET/THR	0,3922		0,0,1961	134.0	132.0	133.0		3221	5.4	1.0	11		133	1,8305		0,1,4152	no	missense	MAML2	NM_032427.1	81	0,1,6113	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	1074/1157	95712362	1,12227	1961	4153	6114	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712362G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3221C>T	11.37:g.95712362G>A	ENSP00000434552:p.Thr1074Met						p.T1074M	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	4505	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	1074					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.3221C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623922	0.46840	0.0	1.2E-4	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.46819	0.86;0.86	5.4	5.4	0.78164	.	0.110599	0.40818	N	0.001007	T	0.50086	0.1595	N	0.22421	0.69	0.31327	N	0.685315	D	0.76494	0.999	P	0.57846	0.828	T	0.57551	-0.7792	10	0.66056	D	0.02	-17.2867	14.6894	0.69072	0.0:0.0:1.0:0.0	.	1074	Q8IZL2	MAML2_HUMAN	M	1074	ENSP00000434552:T1074M;ENSP00000412394:T1074M	ENSP00000412394:T1074M	T	-	2	0	MAML2	95352010	1.000000	0.71417	0.969000	0.41365	0.343000	0.28985	4.423000	0.59861	2.527000	0.85204	0.561000	0.74099	ACG		0.507	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			8	289	0	0	0	1	0	8	289				
RYR3	6263	broad.mit.edu	37	15	33825537	33825537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33825537G>A	ENST00000389232.4	+	5	450	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	127	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTACATCAAGATCCCAGACA	0.463																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(379-381)aGa>aAa		ryanodine receptor 3							106.0	101.0	103.0					15																	33825537		1976	4163	6139	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33825537G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.380G>A	15.37:g.33825537G>A	ENSP00000373884:p.Arg127Lys					RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	p.R127K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	5	450	+		all_lung(180;7.18e-09)	127			MIR 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.380G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588542	0.86851	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98264	-4.83;-4.83	4.73	4.73	0.59995	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.72118	2.19	0.48185	D	0.999609	D;P	0.53312	0.959;0.951	D;P	0.65684	0.937;0.76	D	0.98945	1.0792	10	0.07990	T	0.79	.	17.5237	0.87793	0.0:0.0:1.0:0.0	.	127;127	Q15413-2;Q15413	.;RYR3_HUMAN	K	127	ENSP00000373884:R127K;ENSP00000399610:R127K	ENSP00000354735:R127K	R	+	2	0	RYR3	31612829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.442000	0.82660	0.655000	0.94253	AGA		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	54	0	0	0	1	0	6	54				
FREM2	341640	broad.mit.edu	37	13	39263085	39263085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263085G>A	ENST00000280481.7	+	1	1820	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	535					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTGCTTCGCATGGTGGAT	0.587																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1603-1605)cGc>cAc		FRAS1 related extracellular matrix protein 2							48.0	38.0	42.0					13																	39263085		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263085G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1604G>A	13.37:g.39263085G>A	ENSP00000280481:p.Arg535His						p.R535H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1820	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	535					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1604G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120862	0.56613	.	.	ENSG00000150893	ENST00000280481	T	0.76316	-1.01	5.4	4.54	0.55810	.	0.055337	0.64402	D	0.000001	D	0.86138	0.5861	M	0.85630	2.765	0.80722	D	1	D	0.64830	0.994	P	0.54856	0.762	D	0.88654	0.3184	10	0.72032	D	0.01	.	15.4664	0.75403	0.0:0.0:0.8601:0.1399	.	535	Q5SZK8	FREM2_HUMAN	H	535	ENSP00000280481:R535H	ENSP00000280481:R535H	R	+	2	0	FREM2	38161085	1.000000	0.71417	0.975000	0.42487	0.718000	0.41266	3.443000	0.52907	1.267000	0.44247	0.561000	0.74099	CGC		0.587	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		18	110	0	0	0	1	0	18	110				
SLC36A4	120103	broad.mit.edu	37	11	92917667	92917667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92917667G>A	ENST00000326402.4	-	3	329	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	67					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTAAGAAGGTGCATAAGAGTT	0.313																																						ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(199-201)Cac>Tac		solute carrier family 36 (proton/amino acid symporter), member 4							143.0	149.0	147.0					11																	92917667		2201	4298	6499	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92917667G>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.199C>T	11.37:g.92917667G>A	ENSP00000317382:p.His67Tyr					SLC36A4_ENST00000529184.1_5'UTR	p.H67Y	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN			3	329	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	67					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.199C>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390349	0.82902	.	.	ENSG00000180773	ENST00000326402	T	0.02472	4.28	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02588	-1.1137	10	0.87932	D	0	-18.8948	20.2544	0.98414	0.0:0.0:1.0:0.0	.	67	Q6YBV0	S36A4_HUMAN	Y	67	ENSP00000317382:H67Y	ENSP00000317382:H67Y	H	-	1	0	SLC36A4	92557315	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.710000	0.84655	2.885000	0.99019	0.655000	0.94253	CAC		0.313	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			142	533	0	0	0	1	0	142	533				
FANCG	2189	broad.mit.edu	37	9	35075020	35075020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35075020C>T	ENST00000378643.3	-	12	2031	c.1540G>A	c.(1540-1542)Gca>Aca	p.A514T	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	514					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGGCGGCTGCCCGAAGCTGC	0.567			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Mis, N, F, S"""	"""Fanconi anemia, complementation group G"""			L		"""AML, leukemia"""			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(1540-1542)Gca>Aca	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							92.0	86.0	88.0					9																	35075020		2203	4300	6503	SO:0001583	missense	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35075020C>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1540G>A	9.37:g.35075020C>T	ENSP00000367910:p.Ala514Thr					FANCG_ENST00000476212.1_Intron	p.A514T	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		12	2031	-			514						Missense_Mutation	SNP	ENST00000378643.3	37	c.1540G>A	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257020	0.39896	.	.	ENSG00000221829	ENST00000378643	T	0.55760	0.5	5.7	1.54	0.23209	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.32941	0.0846	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18713	-1.0328	9	0.29301	T	0.29	0.5318	4.7872	0.13230	0.4716:0.354:0.0:0.1744	.	514	O15287	FANCG_HUMAN	T	514	ENSP00000367910:A514T	ENSP00000367910:A514T	A	-	1	0	FANCG	35065020	0.001000	0.12720	0.203000	0.23512	0.973000	0.67179	0.366000	0.20365	0.004000	0.14682	-0.181000	0.13052	GCA		0.567	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		47	314	0	0	0	1	0	47	314				
LOC349160	349160	broad.mit.edu	37	7	136848873	136848873	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136848873G>A	ENST00000439694.1	-	0	164				hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000599888.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA																							TCTACCTGAGGCTGTTGGTCA	0.502																																						ENST00000439694.1																			0																																																			0							g.chr7:136848873G>A																													7.37:g.136848873G>A						AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA								0	164	-									RNA	SNP	ENST00000439694.1	37																																																																																						0.502	hsa-mir-490.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000341008.1			35	156	0	0	0	1	0	35	156				
ERBB2	2064	broad.mit.edu	37	17	37868294	37868294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37868294G>A	ENST00000269571.5	+	8	1174	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	ERBB2_ENST00000406381.2_Missense_Mutation_p.A309T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	339					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAAGCCCTGTGCCCGAGGTAC	0.637		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(925-927)Gcc>Acc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						108.0	84.0	92.0					17																	37868294		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868294G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1015G>A	17.37:g.37868294G>A	ENSP00000269571:p.Ala339Thr	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A339T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T	p.A309T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	10	1435	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	339					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.925G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859575	0.51376	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	D;D;T;D;D;D	0.84070	-1.8;-1.8;0.98;-1.8;-1.8;-1.8	5.3	4.3	0.51218	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.76550	0.4003	L	0.29908	0.895	0.42433	D	0.992688	B;B;B;B;B	0.33528	0.019;0.057;0.057;0.024;0.416	B;B;B;B;B	0.38712	0.005;0.015;0.014;0.02;0.28	T	0.78089	-0.2340	9	0.72032	D	0.01	.	11.4994	0.50428	0.0:0.2466:0.7534:0.0	.	63;309;324;339;339	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	T	309;324;63;339;309;309	ENSP00000385185:A309T;ENSP00000446466:A324T;ENSP00000404047:A63T;ENSP00000269571:A339T;ENSP00000443562:A309T;ENSP00000446382:A309T	ENSP00000269571:A339T	A	+	1	0	ERBB2	35121820	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.770000	0.55310	2.766000	0.95052	0.491000	0.48974	GCC		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			54	539	0	0	0	1	0	54	539				
NXT1	29107	broad.mit.edu	37	20	23335079	23335079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23335079G>A	ENST00000254998.2	+	2	788	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RP3-322G13.7_ENST00000442884.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|AL096677.1_ENST00000596205.1_5'Flank	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	134	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTGCTTCCGCTTCCAGGAC	0.542																																						ENST00000254998.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(400-402)cGc>cAc		NTF2-like export factor 1							41.0	39.0	40.0					20																	23335079		2203	4300	6503	SO:0001583	missense	29107					cytoplasm|nuclear pore		g.chr20:23335079G>A	AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.401G>A	20.37:g.23335079G>A	ENSP00000254998:p.Arg134His						p.R134H	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN			2	788	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		134			NTF2.			Missense_Mutation	SNP	ENST00000254998.2	37	c.401G>A	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105331	0.77096	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.22	2.17	0.27698	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.116909	0.56097	D	0.000030	T	0.81004	0.4733	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79876	-0.1618	9	0.87932	D	0	.	6.9031	0.24293	0.1619:0.1449:0.6931:0.0	.	134	Q9UKK6	NXT1_HUMAN	H	134	.	ENSP00000254998:R134H	R	+	2	0	NXT1	23283079	1.000000	0.71417	0.940000	0.37924	0.968000	0.65278	9.069000	0.93967	0.438000	0.26450	0.655000	0.94253	CGC		0.542	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	NM_013248		44	179	0	0	0	1	0	44	179				
ARMC2	84071	broad.mit.edu	37	6	109225603	109225603	+	Missense_Mutation	SNP	C	C	A	rs145604834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109225603C>A	ENST00000392644.4	+	8	1186	c.1018C>A	c.(1018-1020)Cta>Ata	p.L340I	ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	340										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAAATAATTCTAGCAGTAAG	0.313																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(1018-1020)Cta>Ata		armadillo repeat containing 2							115.0	113.0	113.0					6																	109225603		2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109225603C>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1018C>A	6.37:g.109225603C>A	ENSP00000376417:p.Leu340Ile					ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	p.L340I	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	8	1186	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	340					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.1018C>A	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691509	0.88735	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.59224	0.28;0.32	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.83012	2.62	0.54753	D	0.999985	D	0.76494	0.999	D	0.80764	0.994	T	0.78224	-0.2287	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	340	Q8NEN0	ARMC2_HUMAN	I	175;340	ENSP00000357968:L175I;ENSP00000376417:L340I	ENSP00000357968:L175I	L	+	1	2	ARMC2	109332296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.014000	0.57145	2.798000	0.96311	0.655000	0.94253	CTA		0.313	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		26	260	1	0	7.16444e-05	1	7.29775e-05	26	260				
NPHS1	4868	broad.mit.edu	37	19	36339963	36339963	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339963T>G	ENST00000378910.5	-	8	926	c.927A>C	c.(925-927)gaA>gaC	p.E309D	NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	309	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCATGGTCTTCTGGCCTCA	0.657																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(925-927)gaA>gaC		nephrosis 1, congenital, Finnish type (nephrin)							65.0	58.0	60.0					19																	36339963		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36339963T>G		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.927A>C	19.37:g.36339963T>G	ENSP00000368190:p.Glu309Asp					NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D	p.E309D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	926	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		309			Ig-like C2-type 3.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.927A>C	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787798	0.49997	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78003	-1.14;-1.14	5.32	3.09	0.35607	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117636	0.56097	D	0.000033	T	0.80539	0.4642	L	0.57536	1.79	0.35805	D	0.823421	D	0.71674	0.998	D	0.63033	0.91	T	0.80004	-0.1564	10	0.42905	T	0.14	-17.3468	5.0005	0.14262	0.0:0.4743:0.0:0.5257	.	309	O60500	NPHN_HUMAN	D	309	ENSP00000368190:E309D;ENSP00000343634:E309D	ENSP00000343634:E309D	E	-	3	2	NPHS1	41031803	0.987000	0.35691	1.000000	0.80357	0.443000	0.32047	0.012000	0.13287	0.368000	0.24481	0.378000	0.23410	GAA		0.657	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			72	406	0	0	0	1	0	72	406				
PLEKHA8	84725	broad.mit.edu	37	7	30100541	30100541	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30100541C>A	ENST00000449726.1	+	10	1431	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	361	Glycolipid transfer protein homology domain.			MDLVGNI -> DGSCWKY (in Ref. 5; AAG48267). {ECO:0000305}.	ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAAGATGGATCTTGTTGGAAA	0.323																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1081-1083)Ctt>Att		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							117.0	113.0	114.0					7																	30100541		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30100541C>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1081C>A	7.37:g.30100541C>A	ENSP00000397947:p.Leu361Ile					PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I	p.L361I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			10	1431	+			361	MDLVGNI -> DGSCWKY (in Ref. 4; AAG48267).				B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1081C>A	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165487	0.21538	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	4.91	4.91	0.64330	Glycolipid transfer protein domain (3);	0.056844	0.64402	D	0.000001	T	0.33059	0.0850	N	0.11818	0.18	0.27784	N	0.943051	B;P;D;P	0.67145	0.211;0.885;0.996;0.846	B;P;D;B	0.75484	0.066;0.589;0.986;0.41	T	0.18116	-1.0347	9	0.09084	T	0.74	-24.9016	7.9807	0.30181	0.0:0.8245:0.0:0.1755	.	361;361;361;361	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	I	361;361;361;361;387	.	ENSP00000258679:L361I	L	+	1	0	PLEKHA8	30067066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.348000	0.59379	2.410000	0.81850	0.467000	0.42956	CTT		0.323	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		83	375	1	0	5.25376e-55	1	6.56284e-55	83	375				
SH3TC1	54436	broad.mit.edu	37	4	8221133	8221133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8221133G>A	ENST00000245105.3	+	9	1055	c.988G>A	c.(988-990)Gac>Aac	p.D330N	SH3TC1_ENST00000539824.1_Missense_Mutation_p.D254N	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	330	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGAGGTGGCGACCTCATCGA	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(760-762)Gac>Aac		SH3 domain and tetratricopeptide repeats 1							51.0	56.0	54.0					4																	8221133		2202	4300	6502	SO:0001583	missense	54436						binding	g.chr4:8221133G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.988G>A	4.37:g.8221133G>A	ENSP00000245105:p.Asp330Asn					SH3TC1_ENST00000245105.3_Missense_Mutation_p.D330N	p.D254N			Q8TE82	S3TC1_HUMAN			9	1134	+			330					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.760G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710603	0.68730	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.27104	1.69;1.69;1.69	4.21	4.21	0.49690	Src homology-3 domain (3);	0.140683	0.45606	D	0.000346	T	0.48295	0.1492	M	0.67397	2.05	0.29588	N	0.848666	D	0.89917	1.0	D	0.87578	0.998	T	0.49744	-0.8907	10	0.87932	D	0	-26.9103	13.7276	0.62767	0.0:0.0:1.0:0.0	.	330	Q8TE82	S3TC1_HUMAN	N	68;330;254;159;139	ENSP00000245105:D330N;ENSP00000441045:D254N;ENSP00000426035:D139N	ENSP00000245105:D330N	D	+	1	0	SH3TC1	8272033	1.000000	0.71417	0.039000	0.18376	0.452000	0.32318	6.722000	0.74735	1.893000	0.54813	0.491000	0.48974	GAC		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		102	404	0	0	0	1	0	102	404				
KIAA0319	9856	broad.mit.edu	37	6	24572854	24572854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24572854C>A	ENST00000378214.3	-	11	2331	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000535378.1_Missense_Mutation_p.D594Y	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	603	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTGAAGAATCTGTCACCTTC	0.413																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(1780-1782)Gat>Tat		KIAA0319							141.0	118.0	126.0					6																	24572854		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24572854C>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1807G>T	6.37:g.24572854C>A	ENSP00000367459:p.Asp603Tyr					KIAA0319_ENST00000378214.3_Missense_Mutation_p.D603Y|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y	p.D594Y	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			12	2422	-			603			PKD 3.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1780G>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838829	0.71373	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.31	4.31	0.51392	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (3);	0.075859	0.52532	D	0.000064	T	0.59128	0.2171	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.78226	-0.2286	10	0.87932	D	0	-16.8604	16.9707	0.86298	0.0:1.0:0.0:0.0	.	603;594;603	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Y	603;594;558;603;603	ENSP00000439700:D603Y;ENSP00000442403:D594Y;ENSP00000401086:D558Y;ENSP00000367459:D603Y;ENSP00000437656:D603Y	ENSP00000367459:D603Y	D	-	1	0	KIAA0319	24680833	1.000000	0.71417	0.996000	0.52242	0.603000	0.37013	6.823000	0.75282	2.207000	0.71202	0.655000	0.94253	GAT		0.413	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		54	205	1	0	2.14255e-21	1	2.4122e-21	54	205				
DAXX	1616	broad.mit.edu	37	6	33287473	33287473	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33287473T>C	ENST00000374542.5	-	6	1828	c.1624A>G	c.(1624-1626)Agc>Ggc	p.S542G	DAXX_ENST00000266000.6_Missense_Mutation_p.S542G|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Missense_Mutation_p.S467G|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	542	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATCTATGCTGGAGGGGGCC	0.522			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1624-1626)Agc>Ggc		death-domain associated protein							102.0	93.0	96.0					6																	33287473		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287473T>C	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1624A>G	6.37:g.33287473T>C	ENSP00000363668:p.Ser542Gly					DAXX_ENST00000414083.2_Missense_Mutation_p.S467G|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.S542G	p.S542G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			6	1828	-			542			Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1624A>G	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387050	0.42308	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.36	0.3	0.15776	.	0.827161	0.11195	N	0.589489	T	0.14787	0.0357	L	0.57536	1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.24621	-1.0155	9	0.36615	T	0.2	-4.1006	2.8037	0.05421	0.1873:0.2111:0.0:0.6016	.	554;542	B4E1C1;Q9UER7	.;DAXX_HUMAN	G	542;542;467	.	ENSP00000266000:S542G	S	-	1	0	DAXX	33395451	0.014000	0.17966	0.001000	0.08648	0.811000	0.45836	0.142000	0.16096	0.308000	0.22923	0.448000	0.29417	AGC		0.522	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			83	399	0	0	0	1	0	83	399				
GRM7	2917	broad.mit.edu	37	3	7620917	7620917	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620917T>C	ENST00000357716.4	+	8	2598	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Missense_Mutation_p.I775T|GRM7_ENST00000402647.2_Missense_Mutation_p.I775T|GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	775					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						GTGTATGCCATCAAGACTCGG	0.433																																						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.(2323-2325)aTc>aCc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						105.0	99.0	101.0					3																	7620917		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.chr3:7620917T>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.2324T>C	3.37:g.7620917T>C	ENSP00000350348:p.Ile775Thr					GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T|GRM7_ENST00000357716.4_Missense_Mutation_p.I775T|GRM7_ENST00000402647.2_Missense_Mutation_p.I775T|GRM7_ENST00000458641.2_3'UTR	p.I775T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2598	+			775					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2324T>C	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847396	0.71603	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.65975	2.015	0.58432	D	0.999999	P;D;D;D;P	0.69078	0.621;0.989;0.997;0.968;0.947	P;D;D;D;P	0.80764	0.593;0.985;0.994;0.969;0.747	D	0.94088	0.7350	10	0.87932	D	0	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	775;775;530;775;775	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	775	ENSP00000350348:I775T;ENSP00000417536:I775T;ENSP00000373987:I775T;ENSP00000385664:I775T;ENSP00000384585:I775T	ENSP00000350348:I775T	I	+	2	0	GRM7	7595917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATC		0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		78	287	0	0	0	1	0	78	287				
MEOX1	4222	broad.mit.edu	37	17	41738457	41738457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41738457G>A	ENST00000318579.4	-	1	865	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S|MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	149					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCGCCTGGATGATTTCTT	0.577																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(445-447)tCc>tTc		mesenchyme homeobox 1							197.0	197.0	197.0					17																	41738457		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738457G>A		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.446C>T	17.37:g.41738457G>A	ENSP00000321684:p.Ser149Phe					MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S	p.S149F	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	865	-		Breast(137;0.00908)	149					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.446C>T	CCDS11466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748940|2.748940	0.49257|0.49257	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000549132|ENST00000318579;ENST00000329168;ENST00000393661	.|D;T;D	.|0.91996	.|-2.95;0.42;-2.91	4.99|4.99	2.95|2.95	0.34219|0.34219	.|.	.|0.711794	.|0.14610	.|N	.|0.309064	D|D	0.91071|0.91071	0.7190|0.7190	L|L	0.42245|0.42245	1.32|1.32	0.39430|0.39430	D|D	0.967062|0.967062	.|P;P	.|0.46220	.|0.874;0.523	.|P;B	.|0.51355	.|0.667;0.429	D|D	0.89161|0.89161	0.3530|0.3530	6|10	0.87932|0.72032	D|D	0|0.01	-11.643|-11.643	9.0032|9.0032	0.36094|0.36094	0.0785:0.147:0.7746:0.0|0.0785:0.147:0.7746:0.0	.|.	.|149;149	.|Q15069;P50221	.|.;MEOX1_HUMAN	S|F	120|149;149;34	.|ENSP00000321684:S149F;ENSP00000328678:S149F;ENSP00000377271:S34F	ENSP00000449049:P120S|ENSP00000321684:S149F	P|S	-|-	1|2	0|0	MEOX1|MEOX1	39093983|39093983	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	2.401000|2.401000	0.44513|0.44513	0.666000|0.666000	0.31087|0.31087	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.577	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			223	1074	0	0	0	1	0	223	1074				
EXD3	54932	broad.mit.edu	37	9	140267392	140267392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140267392C>T	ENST00000340951.4	-	5	622	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.V143I	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGCGGTGGACGTGTGCCAGC	0.667																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(427-429)Gtc>Atc		exonuclease 3'-5' domain containing 3							31.0	38.0	36.0					9																	140267392		2085	4209	6294	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267392C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.427G>A	9.37:g.140267392C>T	ENSP00000340474:p.Val143Ile					EXD3_ENST00000479452.1_Missense_Mutation_p.V143I|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	p.V143I	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	622	-			143					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.427G>A	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183685	0.01620	.	.	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.52526	0.66;1.15	4.3	-1.78	0.07957	.	0.535908	0.19500	N	0.112760	T	0.28863	0.0716	L	0.43152	1.355	0.18873	N	0.999988	B;B	0.31968	0.195;0.349	B;B	0.17722	0.008;0.019	T	0.17471	-1.0368	10	0.19590	T	0.45	.	8.4683	0.32969	0.0:0.5041:0.0:0.4959	.	143;143	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	I	143	ENSP00000340474:V143I;ENSP00000431859:V143I	ENSP00000340474:V143I	V	-	1	0	EXD3	139387213	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.175000	0.09825	-0.873000	0.04032	0.313000	0.20887	GTC		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		18	280	0	0	0	1	0	18	280				
TOPBP1	11073	broad.mit.edu	37	3	133337217	133337217	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133337217A>G	ENST00000260810.5	-	21	3563	c.3432T>C	c.(3430-3432)atT>atC	p.I1144I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1144					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGTCATCCCAAATGATCTGTT	0.458								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(3430-3432)atT>atC	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							158.0	152.0	154.0					3																	133337217		1950	4160	6110	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133337217A>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3432T>C	3.37:g.133337217A>G							p.I1144I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			21	3563	-			1144					B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.3432T>C	CCDS46919.1																																																																																				0.458	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		126	465	0	0	0	1	0	126	465				
OR7D2	162998	broad.mit.edu	37	19	9296785	9296785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9296785C>A	ENST00000344248.2	+	1	507	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	110					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L110V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTCCTATTCTGGACACGCT	0.517																																						ENST00000344248.2																			1	Substitution - Missense(1)	p.L110V(1)	ovary(1)	breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(328-330)Ctg>Atg		olfactory receptor, family 7, subfamily D, member 2							182.0	167.0	172.0					19																	9296785		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296785C>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.328C>A	19.37:g.9296785C>A	ENSP00000345563:p.Leu110Met						p.L110M	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	507	+			110					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.328C>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.390430	0.01185	.	.	ENSG00000188000	ENST00000344248	T	0.00892	5.57	2.21	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31268	U	0.007960	T	0.00580	0.0019	N	0.17872	0.535	0.09310	N	1	B	0.23937	0.094	B	0.23852	0.049	T	0.47560	-0.9108	10	0.31617	T	0.26	.	1.8614	0.03189	0.4995:0.2153:0.1648:0.1204	.	110	Q96RA2	OR7D2_HUMAN	M	110	ENSP00000345563:L110M	ENSP00000345563:L110M	L	+	1	2	OR7D2	9157785	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.338000	0.07842	-0.321000	0.08627	0.511000	0.50034	CTG		0.517	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			144	670	1	0	1.18489e-69	1	1.50393e-69	144	670				
ADH4	127	broad.mit.edu	37	4	100057801	100057801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100057801G>A	ENST00000265512.7	-	5	472	c.398C>T	c.(397-399)aCc>aTc	p.T133I	ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|ADH4_ENST00000505590.1_Missense_Mutation_p.T152I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Missense_Mutation_p.T152I	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	133					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		AAACCTGCTGGTTTTGTCTTC	0.338																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(454-456)aCc>aTc		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						103.0	100.0	101.0					4																	100057801		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100057801G>A	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.398C>T	4.37:g.100057801G>A	ENSP00000265512:p.Thr133Ile					ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.T133I|ADH4_ENST00000505590.1_Missense_Mutation_p.T152I	p.T152I			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	6	620	-			133					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.455C>T	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544064	0.65198	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	4.55	3.7	0.42460	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.388495	0.22795	N	0.055556	T	0.31734	0.0806	H	0.95365	3.66	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51601	-0.8685	10	0.87932	D	0	-8.474	14.6936	0.69103	0.0:0.1458:0.8542:0.0	.	152;133	P08319-2;P08319	.;ADH4_HUMAN	I	152;133;152;152;152	ENSP00000424630:T152I;ENSP00000265512:T133I;ENSP00000397939:T152I;ENSP00000425416:T152I;ENSP00000423571:T152I	ENSP00000265512:T133I	T	-	2	0	ADH4	100276824	0.999000	0.42202	0.989000	0.46669	0.900000	0.52787	2.643000	0.46604	1.135000	0.42183	0.650000	0.86243	ACC		0.338	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		63	245	0	0	0	1	0	63	245				
ARHGAP35	2909	broad.mit.edu	37	19	47424913	47424913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424913G>A	ENST00000404338.3	+	1	2981	c.2981G>A	c.(2980-2982)aGc>aAc	p.S994N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	994					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCATCTTACAGCCTGTTTCGA	0.493																																						ENST00000404338.3																			0											c.(2980-2982)aGc>aAc		Rho GTPase activating protein 35							62.0	61.0	61.0					19																	47424913		1940	4151	6091	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424913G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2981G>A	19.37:g.47424913G>A	ENSP00000385720:p.Ser994Asn						p.S994N	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2981	+			994					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2981G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559972	0.27827	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08720	3.06	5.76	1.08	0.20341	.	0.813714	0.12204	N	0.489984	T	0.08537	0.0212	L	0.42245	1.32	0.09310	N	0.999994	P	0.36392	0.551	B	0.39531	0.302	T	0.29119	-1.0022	10	0.46703	T	0.11	-4.8785	6.1961	0.20550	0.0699:0.3604:0.4428:0.1268	.	994	Q9NRY4-2	.	N	994	ENSP00000385720:S994N	ENSP00000324820:S994N	S	+	2	0	ARHGAP35	52116753	0.172000	0.23043	0.450000	0.26969	0.803000	0.45373	0.815000	0.27253	0.059000	0.16252	0.655000	0.94253	AGC		0.493	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		25	250	0	0	0	1	0	25	250				
SPEF2	79925	broad.mit.edu	37	5	35740347	35740347	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740347C>T	ENST00000356031.3	+	23	3462	c.3308C>T	c.(3307-3309)gCt>gTt	p.A1103V	SPEF2_ENST00000440995.2_Missense_Mutation_p.A1098V|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1103					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAACAAAGGCTGAACTACAT	0.448																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3292-3294)gCt>gTt		sperm flagellar 2							148.0	134.0	139.0					5																	35740347		1961	4157	6118	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740347C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3308C>T	5.37:g.35740347C>T	ENSP00000348314:p.Ala1103Val					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.A1103V	p.A1098V			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		23	3293	+	all_lung(31;7.56e-05)		1103					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3293C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442304	0.83993	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08193	3.12;3.12	5.83	4.94	0.65067	.	0.328508	0.31082	N	0.008292	T	0.19685	0.0473	M	0.68593	2.085	0.80722	D	1	D;P	0.63046	0.992;0.792	P;B	0.54270	0.747;0.326	T	0.00551	-1.1675	10	0.66056	D	0.02	.	12.3549	0.55169	0.1337:0.7376:0.1287:0.0	.	1098;1103	Q9C093-2;Q9C093	.;SPEF2_HUMAN	V	1103;1098	ENSP00000348314:A1103V;ENSP00000412125:A1098V	ENSP00000348314:A1103V	A	+	2	0	SPEF2	35776104	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.036000	0.49767	1.419000	0.47118	0.655000	0.94253	GCT		0.448	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		86	508	0	0	0	1	0	86	508				
RYR1	6261	broad.mit.edu	37	19	39063833	39063833	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39063833T>G	ENST00000359596.3	+	96	14015	c.14015T>G	c.(14014-14016)tTt>tGt	p.F4672C	RYR1_ENST00000355481.4_Missense_Mutation_p.F4667C|RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4672					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGGTAATCTTTAAGCGGGAG	0.592																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(13999-14001)tTt>tGt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						82.0	78.0	79.0					19																	39063833		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39063833T>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14015T>G	19.37:g.39063833T>G	ENSP00000352608:p.Phe4672Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C|RYR1_ENST00000359596.3_Missense_Mutation_p.F4672C	p.F4667C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		95	14131	+	all_cancers(60;7.91e-06)		4672					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14000T>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098369	0.37048	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99121	-5.45;-5.44;-5.44	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	D	0.99233	0.9733	M	0.84948	2.725	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	13.4287	0.61042	0.0:0.0:0.0:1.0	.	4667;4672	P21817-2;P21817	.;RYR1_HUMAN	C	4672;4667;4667	ENSP00000352608:F4672C;ENSP00000347667:F4667C;ENSP00000354254:F4667C	ENSP00000347667:F4667C	F	+	2	0	RYR1	43755673	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.711000	0.84669	1.858000	0.53909	0.260000	0.18958	TTT		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			78	293	0	0	0	1	0	78	293				
SLC9A2	6549	broad.mit.edu	37	2	103300642	103300642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103300642G>A	ENST00000233969.2	+	5	1414	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	424					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCATTCCCCTGACCTTTAAGG	0.463																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1270-1272)ctG>ctA		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							190.0	168.0	175.0					2																	103300642		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103300642G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1272G>A	2.37:g.103300642G>A							p.L424L	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			5	1414	+			424					B2RMS2	Silent	SNP	ENST00000233969.2	37	c.1272G>A	CCDS2062.1																																																																																				0.463	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			51	514	0	0	0	1	0	51	514				
ACHE	43	broad.mit.edu	37	7	100488797	100488797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100488797G>A	ENST00000412389.1	-	3	1871	c.1716C>T	c.(1714-1716)agC>agT	p.S572S	ACHE_ENST00000419336.2_Silent_p.S484S|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Silent_p.S572S|ACHE_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000241069.5_Silent_p.S572S|ACHE_ENST00000302913.4_Silent_p.S572S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	572					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TACCGGTGGCGCTGAGCAATT	0.701																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(1714-1716)agC>agT		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						6.0	7.0	7.0					7																	100488797		2084	4116	6200	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100488797G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1716C>T	7.37:g.100488797G>A						ACHE_ENST00000411582.1_Silent_p.S572S|ACHE_ENST00000412389.1_Silent_p.S572S|ACHE_ENST00000419336.2_Silent_p.S484S|ACHE_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000241069.5_Silent_p.S572S	p.S572S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			4	1854	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		572					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.1716C>T	CCDS5709.1																																																																																				0.701	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		19	88	0	0	0	1	0	19	88				
ABCE1	6059	broad.mit.edu	37	4	146032209	146032209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146032209G>A	ENST00000296577.4	+	8	1218	c.703G>A	c.(703-705)Gct>Act	p.A235T	OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	235	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATACAGAAAGCTGATATGTA	0.358																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(703-705)Gct>Act		ATP-binding cassette, sub-family E (OABP), member 1							135.0	120.0	125.0					4																	146032209		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146032209G>A	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.703G>A	4.37:g.146032209G>A	ENSP00000296577:p.Ala235Thr					ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	p.A235T	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			8	1218	+	all_hematologic(180;0.151)		235			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.703G>A	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826680	0.90955	.	.	ENSG00000164163	ENST00000296577	D	0.85339	-1.97	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	L	0.57130	1.785	0.80722	D	1	B	0.31790	0.34	B	0.38683	0.279	D	0.85299	0.1072	10	0.54805	T	0.06	-38.6729	19.6512	0.95812	0.0:0.0:1.0:0.0	.	235	P61221	ABCE1_HUMAN	T	235	ENSP00000296577:A235T	ENSP00000296577:A235T	A	+	1	0	ABCE1	146251659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.712000	0.92718	0.591000	0.81541	GCT		0.358	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		49	220	0	0	0	1	0	49	220				
KIAA1467	57613	broad.mit.edu	37	12	13232935	13232935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13232935C>T	ENST00000197268.8	+	12	1975	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	619						integral component of membrane (GO:0016021)		p.P619S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTTGAAGCTCCCTACGAGGT	0.478																																						ENST00000197268.8																			1	Substitution - Missense(1)	p.P619S(1)	skin(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(1855-1857)Ccc>Tcc		KIAA1467							30.0	34.0	33.0					12																	13232935		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13232935C>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1855C>T	12.37:g.13232935C>T	ENSP00000197268:p.Pro619Ser						p.P619S	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	12	1975	+		Prostate(47;0.184)	619					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.1855C>T	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845378	0.32606	.	.	ENSG00000084444	ENST00000197268	.	.	.	5.43	3.45	0.39498	.	0.515087	0.20509	N	0.090937	T	0.35998	0.0951	L	0.29908	0.895	0.36344	D	0.859672	B	0.33940	0.433	B	0.33890	0.172	T	0.45600	-0.9250	9	0.52906	T	0.07	-14.8978	5.5861	0.17275	0.1414:0.644:0.1372:0.0775	.	619	A2RU67	K1467_HUMAN	S	619	.	ENSP00000197268:P619S	P	+	1	0	KIAA1467	13124202	1.000000	0.71417	0.995000	0.50966	0.431000	0.31685	1.421000	0.34815	2.540000	0.85666	0.650000	0.86243	CCC		0.478	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		12	111	0	0	0	1	0	12	111				
DAO	1610	broad.mit.edu	37	12	109278930	109278930	+	Missense_Mutation	SNP	G	G	A	rs546485721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109278930G>A	ENST00000228476.3	+	2	352	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	DAO_ENST00000551281.1_Missense_Mutation_p.G50S	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	50					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CGTGGCTGCCGGCCTCTGGCA	0.617																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(148-150)Ggc>Agc		D-amino-acid oxidase							70.0	72.0	71.0					12																	109278930		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109278930G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.148G>A	12.37:g.109278930G>A	ENSP00000228476:p.Gly50Ser					DAO_ENST00000551281.1_Missense_Mutation_p.G50S	p.G50S	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			2	352	+			50					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.148G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959338	0.74016	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	D;D;D	0.86956	-2.19;-2.19;-2.19	5.58	5.58	0.84498	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.046434	0.85682	D	0.000000	D	0.94621	0.8266	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94898	0.8054	10	0.59425	D	0.04	-7.3957	18.1463	0.89656	0.0:0.0:1.0:0.0	.	50;50	P14920;Q7Z312	OXDA_HUMAN;.	S	50	ENSP00000446853:G50S;ENSP00000228476:G50S;ENSP00000447104:G50S	ENSP00000228476:G50S	G	+	1	0	DAO	107803059	1.000000	0.71417	0.959000	0.39883	0.028000	0.11728	9.777000	0.99008	2.628000	0.89032	0.591000	0.81541	GGC		0.617	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			90	569	0	0	0	1	0	90	569				
FAM101A	144347	broad.mit.edu	37	12	124796398	124796398	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124796398A>G	ENST00000389727.3	+	2	242	c.242A>G	c.(241-243)gAg>gGg	p.E81G	FAM101A_ENST00000546355.1_5'UTR|FAM101A_ENST00000338359.4_5'UTR|FAM101A_ENST00000324038.3_5'UTR			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	81										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCGGCGTCGGAGATGAGGCCC	0.652																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(241-243)gAg>gGg		family with sequence similarity 101, member A							30.0	27.0	28.0					12																	124796398		2203	4300	6503	SO:0001583	missense	144347							g.chr12:124796398A>G		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.242A>G	12.37:g.124796398A>G	ENSP00000374377:p.Glu81Gly					FAM101A_ENST00000546355.1_5'UTR|RP11-522N14.1_ENST00000540762.1_RNA|FAM101A_ENST00000324038.3_5'UTR|FAM101A_ENST00000338359.4_5'UTR	p.E81G			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	2	242	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		81					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.242A>G		.	.	.	.	.	.	.	.	.	.	A	7.962	0.747238	0.15710	.	.	ENSG00000178882	ENST00000389727	.	.	.	4.83	0.958	0.19619	.	0.167008	0.52532	U	0.000078	T	0.42131	0.1189	.	.	.	0.37423	D	0.913707	.	.	.	.	.	.	T	0.24048	-1.0171	6	0.22706	T	0.39	18.1017	5.1919	0.15214	0.5487:0.3547:0.0966:0.0	.	.	.	.	G	81	.	ENSP00000374377:E81G	E	+	2	0	FAM101A	123362351	1.000000	0.71417	0.228000	0.23943	0.019000	0.09904	4.229000	0.58625	-0.082000	0.12640	0.459000	0.35465	GAG		0.652	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		16	100	0	0	0	1	0	16	100				
ARHGAP17	55114	broad.mit.edu	37	16	24958811	24958811	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24958811T>C	ENST00000289968.6	-	14	1302	c.1233A>G	c.(1231-1233)agA>agG	p.R411R	ARHGAP17_ENST00000303665.5_Silent_p.R411R|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	411	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCCTTCATTTCTGGCCCATA	0.403																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1231-1233)agA>agG		Rho GTPase activating protein 17							99.0	86.0	91.0					16																	24958811		2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24958811T>C	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1233A>G	16.37:g.24958811T>C						ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R411R	p.R411R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	14	1302	-			411			Rho-GAP.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.1233A>G	CCDS32409.1																																																																																				0.403	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		18	262	0	0	0	1	0	18	262				
CCDC132	55610	broad.mit.edu	37	7	92983071	92983071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92983071A>C	ENST00000305866.5	+	26	2711	c.2583A>C	c.(2581-2583)gaA>gaC	p.E861D	CCDC132_ENST00000544910.1_Missense_Mutation_p.E831D|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	861						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTATTGTAGAAGGGTAAGTTT	0.323																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2491-2493)gaA>gaC		coiled-coil domain containing 132							121.0	115.0	117.0					7																	92983071		1824	4076	5900	SO:0001583	missense	55610							g.chr7:92983071A>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2583A>C	7.37:g.92983071A>C	ENSP00000307666:p.Glu861Asp					CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|CCDC132_ENST00000305866.5_Missense_Mutation_p.E861D|CCDC132_ENST00000541136.1_3'UTR	p.E831D	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		27	2713	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		861					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2493A>C	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844788	0.71603	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.52	4.23	0.50019	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.38649	1.16	0.80722	D	1	D;D;D	0.63046	0.992;0.99;0.979	D;D;D	0.77004	0.989;0.98;0.982	T	0.58624	-0.7604	9	0.30078	T	0.28	-11.2153	10.4322	0.44413	0.8921:0.0:0.1079:0.0	.	581;831;861	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	D	861;831;581	.	ENSP00000307666:E861D	E	+	3	2	CCDC132	92821007	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.723000	0.47277	2.237000	0.73441	0.528000	0.53228	GAA		0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		100	415	0	0	0	1	0	100	415				
HFE2	148738	broad.mit.edu	37	1	145415658	145415658	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145415658T>C	ENST00000336751.5	+	3	715	c.477T>C	c.(475-477)ggT>ggC	p.G159G	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Silent_p.G46G	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	159					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCATGGTCGTCCCCCGG	0.687																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(475-477)ggT>ggC		hemochromatosis type 2 (juvenile)							45.0	43.0	44.0					1																	145415658		2203	4300	6503	SO:0001819	synonymous_variant	148738				axon guidance	anchored to membrane		g.chr1:145415658T>C	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.477T>C	1.37:g.145415658T>C						HFE2_ENST00000357836.5_Silent_p.G46G|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.G159G	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	715	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		159					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Silent	SNP	ENST00000336751.5	37	c.477T>C	CCDS910.1																																																																																				0.687	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		83	252	0	0	0	1	0	83	252				
SLC2A10	81031	broad.mit.edu	37	20	45353838	45353838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45353838C>T	ENST00000359271.2	+	2	413	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	55					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGCAGCCTGCTCCTGGGGGC	0.592																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(163-165)Ctc>Ttc		solute carrier family 2 (facilitated glucose transporter), member 10							72.0	68.0	69.0					20																	45353838		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45353838C>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.163C>T	20.37:g.45353838C>T	ENSP00000352216:p.Leu55Phe						p.L55F	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	413	+		Myeloproliferative disorder(115;0.0122)	55					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.163C>T	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618810	0.46736	.	.	ENSG00000197496	ENST00000359271	T	0.74737	-0.87	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000003	D	0.85831	0.5788	M	0.85197	2.74	0.47905	D	0.999547	D	0.89917	1.0	D	0.91635	0.999	D	0.87111	0.2185	10	0.59425	D	0.04	.	10.9873	0.47528	0.0:0.9123:0.0:0.0877	.	55	O95528	GTR10_HUMAN	F	55	ENSP00000352216:L55F	ENSP00000352216:L55F	L	+	1	0	SLC2A10	44787245	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	2.494000	0.45329	2.160000	0.67779	0.407000	0.27541	CTC		0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			52	236	0	0	0	1	0	52	236				
PCDHA1	56147	broad.mit.edu	37	5	140167711	140167711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140167711G>T	ENST00000504120.2	+	1	1836	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAACTGCAGCCGGCAGCAG	0.677																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1834-1836)caG>caT									75.0	78.0	77.0					5																	140167711		2203	4299	6502	SO:0001583	missense	0							g.chr5:140167711G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1836G>T	5.37:g.140167711G>T	ENSP00000420840:p.Gln612His					PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H|PCDHA1_ENST00000394633.3_Intron	p.Q612H	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1836	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1836G>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	0.136	-1.107277	0.01813	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52526	0.66;0.66	3.5	1.63	0.23807	Cadherin (4);Cadherin-like (1);	1.601980	0.05045	U	0.476965	T	0.34454	0.0898	L	0.33668	1.02	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.20577	0.03;0.013	T	0.25641	-1.0126	10	0.40728	T	0.16	.	0.9002	0.01272	0.3148:0.1704:0.3632:0.1517	.	612;612	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	H	612	ENSP00000420840:Q612H;ENSP00000367373:Q612H	ENSP00000367373:Q612H	Q	+	3	2	PCDHA1	140147895	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	1.399000	0.34566	0.113000	0.18004	-0.439000	0.05793	CAG		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		138	562	1	0	2.49262e-74	1	3.17562e-74	138	562				
APOB	338	broad.mit.edu	37	2	21236120	21236120	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21236120G>A	ENST00000233242.1	-	25	4255	c.4128C>T	c.(4126-4128)ggC>ggT	p.G1376G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1376					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGTGTTGCCACCACTGT	0.517																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4126-4128)ggC>ggT		apolipoprotein B	Atorvastatin(DB01076)						198.0	180.0	186.0					2																	21236120		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236120G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4128C>T	2.37:g.21236120G>A							p.G1376G	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	4255	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1376					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.4128C>T	CCDS1703.1																																																																																				0.517	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			238	723	0	0	0	1	0	238	723				
DNHD1	144132	broad.mit.edu	37	11	6592149	6592149	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6592149G>A	ENST00000527990.2	+	40	13407	c.13407G>A	c.(13405-13407)ccG>ccA	p.P4469P	DNHD1_ENST00000254579.6_Silent_p.P4469P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4469					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGACGCCCCGTGGTCAGTGC	0.627																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13405-13407)ccG>ccA		dynein heavy chain domain 1							46.0	52.0	50.0					11																	6592149		2078	4205	6283	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592149G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13407G>A	11.37:g.6592149G>A						DNHD1_ENST00000527990.2_Silent_p.P4469P	p.P4469P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13971	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4469					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.13407G>A	CCDS44532.1																																																																																				0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		67	273	0	0	0	1	0	67	273				
KIAA1109	84162	broad.mit.edu	37	4	123130479	123130479	+	Missense_Mutation	SNP	G	G	A	rs72925924	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123130479G>A	ENST00000264501.4	+	18	2291	c.1918G>A	c.(1918-1920)Gtt>Att	p.V640I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I|KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I			Q2LD37	K1109_HUMAN	KIAA1109	640					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGCGCAACGTTACTCAGGA	0.463													G|||	12	0.00239617	0.0091	0.0	5008	,	,		15694	0.0		0.0	False		,,,				2504	0.0					ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(1918-1920)Gtt>Att		KIAA1109		G	ILE/VAL	16,3870		0,16,1927	72.0	67.0	68.0		1918	-1.4	0.6	4	dbSNP_130	68	0,8284		0,0,4142	yes	missense	KIAA1109	NM_015312.3	29	0,16,6069	AA,AG,GG		0.0,0.4117,0.1315	benign	640/5006	123130479	16,12154	1943	4142	6085	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123130479G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1918G>A	4.37:g.123130479G>A	ENSP00000264501:p.Val640Ile					KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I|KIAA1109_ENST00000495260.1_Intron	p.V640I			Q2LD37	K1109_HUMAN			18	2291	+			640					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.1918G>A	CCDS43267.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	1.753|1.753	-0.488817|-0.488817	0.04352|0.04352	0.004117|0.004117	0.0|0.0	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.21543	.|2.58;2.58;2.0	4.55|4.55	-1.37|-1.37	0.09056|0.09056	.|.	.|0.432718	.|0.14967	.|N	.|0.288041	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.03324|0.03324	-0.35|-0.35	0.27008|0.27008	N|N	0.964746|0.964746	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.40175|0.40175	-0.9577|-0.9577	5|10	.|0.02654	.|T	.|1	.|.	6.2867|6.2867	0.21037|0.21037	0.44:0.1455:0.4145:0.0|0.44:0.1455:0.4145:0.0	.|.	.|640;640	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	H|I	472|640	.|ENSP00000264501:V640I;ENSP00000373390:V640I;ENSP00000389925:V640I	.|ENSP00000264501:V640I	R|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123349929|123349929	0.997000|0.997000	0.39634|0.39634	0.623000|0.623000	0.29173|0.29173	0.986000|0.986000	0.74619|0.74619	1.381000|1.381000	0.34362|0.34362	-0.330000|-0.330000	0.08514|0.08514	-0.459000|-0.459000	0.05422|0.05422	CGT|GTT		0.463	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		39	167	0	0	0	1	0	39	167				
TANC1	85461	broad.mit.edu	37	2	160074011	160074011	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160074011T>G	ENST00000263635.6	+	20	3485	c.3248T>G	c.(3247-3249)cTg>cGg	p.L1083R	TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1083					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTTAGCCCTGACTGCCGCC	0.562																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3247-3249)cTg>cGg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							106.0	114.0	111.0					2																	160074011		2033	4211	6244	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160074011T>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3248T>G	2.37:g.160074011T>G	ENSP00000263635:p.Leu1083Arg					TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	p.L1083R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			20	3485	+			1083					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3248T>G	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657482	0.88154	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;D	0.91295	-2.82;-1.58	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99004	1.0812	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	1075;977;1083	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	977;1083	ENSP00000396339:L977R;ENSP00000263635:L1083R	ENSP00000263635:L1083R	L	+	2	0	TANC1	159782257	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.841000	0.86834	2.269000	0.75478	0.533000	0.62120	CTG		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			191	750	0	0	0	1	0	191	750				
RBKS	64080	broad.mit.edu	37	2	28050516	28050516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28050516G>A	ENST00000302188.3	-	7	1465	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	238					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACATCCTTCAGCCCCTAAGGT	0.498																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(712-714)gCt>gTt		ribokinase							117.0	110.0	112.0					2																	28050516		2203	4300	6503	SO:0001583	missense	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28050516G>A	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.713C>T	2.37:g.28050516G>A	ENSP00000306817:p.Ala238Val					RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	p.A238V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			7	1465	-	Acute lymphoblastic leukemia(172;0.155)		238					A9UK04|B4DV96	Missense_Mutation	SNP	ENST00000302188.3	37	c.713C>T	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669094	0.47677	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.77750	-1.12;-1.12	5.73	4.84	0.62591	Carbohydrate/purine kinase (1);	0.385463	0.32015	N	0.006714	T	0.77961	0.4209	M	0.74647	2.275	0.36951	D	0.892843	P;P	0.50272	0.873;0.933	B;B	0.43754	0.189;0.43	T	0.82997	-0.0179	10	0.54805	T	0.06	-4.4051	11.6494	0.51279	0.0:0.1345:0.7256:0.1399	.	238;238	B4DV96;Q9H477	.;RBSK_HUMAN	V	238	ENSP00000306817:A238V;ENSP00000413232:A238V	ENSP00000306817:A238V	A	-	2	0	RBKS	27904020	0.952000	0.32445	0.115000	0.21578	0.683000	0.39861	3.493000	0.53266	1.392000	0.46585	0.491000	0.48974	GCT		0.498	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		108	309	0	0	0	1	0	108	309				
PLEKHM3	389072	broad.mit.edu	37	2	208811193	208811193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208811193C>T	ENST00000427836.2	-	4	2079	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	PLEKHM3_ENST00000457206.1_Silent_p.V530V|PLEKHM3_ENST00000389247.4_Silent_p.V530V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	530					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTAGTTGCACACCTTGGCTT	0.453																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1588-1590)gtG>gtA		pleckstrin homology domain containing, family M, member 3							152.0	152.0	152.0					2																	208811193		1969	4168	6137	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208811193C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1590G>A	2.37:g.208811193C>T						PLEKHM3_ENST00000427836.2_Silent_p.V530V|PLEKHM3_ENST00000389247.4_Silent_p.V530V	p.V530V			Q6ZWE6	PKHM3_HUMAN			4	2017	-			530					B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.1590G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269919	0.23221	.	.	ENSG00000178385	ENST00000447645	D	0.83992	-1.79	6.04	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90716	0.4631	7	0.66056	D	0.02	.	16.2164	0.82224	0.0:0.7491:0.2509:0.0	.	.	.	.	M	282	ENSP00000395354:V282M	ENSP00000395354:V282M	V	-	1	0	PLEKHM3	208519438	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.857000	0.27831	1.528000	0.49103	0.563000	0.77884	GTG		0.453	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		156	500	0	0	0	1	0	156	500				
WBP2NL	164684	broad.mit.edu	37	22	42416055	42416055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42416055G>T	ENST00000328823.9	+	4	392	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	121			D -> G (in dbSNP:rs133335). {ECO:0000269|PubMed:15489334}.		egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGAAATGGAGATGCCATTGA	0.428																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(361-363)Gat>Tat		WBP2 N-terminal like							140.0	142.0	142.0					22																	42416055		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42416055G>T	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.361G>T	22.37:g.42416055G>T	ENSP00000332983:p.Asp121Tyr					WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	p.D121Y	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			4	392	+			121		D -> G (in dbSNP:rs133335).			A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.361G>T	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009860	0.54361	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.30448	1.53;1.53	5.23	5.23	0.72850	WW-domain-binding protein (1);	0.000000	0.46442	D	0.000295	T	0.20170	0.0485	N	0.08118	0	0.27072	N	0.963301	B	0.16603	0.018	B	0.13407	0.009	T	0.24621	-1.0155	10	0.87932	D	0	-5.2897	17.7276	0.88369	0.0:0.0:1.0:0.0	.	121	Q6ICG8	WBP2L_HUMAN	Y	121;47	ENSP00000332983:D121Y;ENSP00000442447:D47Y	ENSP00000332983:D121Y	D	+	1	0	WBP2NL	40746001	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	7.021000	0.76425	2.719000	0.93026	0.655000	0.94253	GAT		0.428	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		130	584	1	0	2.83116e-54	1	3.53397e-54	130	584				
EPOR	2057	broad.mit.edu	37	19	11492759	11492759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492759G>A	ENST00000222139.6	-	3	378	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	EPOR_ENST00000592375.2_Missense_Mutation_p.R92C	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	92					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TGGTGCAGGCGACACAGCTTC	0.672																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(274-276)Cgc>Tgc		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						32.0	34.0	33.0					19																	11492759		2203	4299	6502	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492759G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.274C>T	19.37:g.11492759G>A	ENSP00000222139:p.Arg92Cys					EPOR_ENST00000222139.6_Missense_Mutation_p.R92C	p.R92C			P19235	EPOR_HUMAN			3	378	-			92					B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.274C>T	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603898	0.66445	.	.	ENSG00000187266	ENST00000222139	D	0.83755	-1.76	3.65	-3.63	0.04529	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.627053	0.15001	N	0.286114	T	0.75796	0.3898	L	0.47716	1.5	0.18873	N	0.999987	D	0.55172	0.97	P	0.46885	0.53	T	0.69518	-0.5124	10	0.54805	T	0.06	-15.8409	7.3652	0.26768	0.0:0.1431:0.2483:0.6086	.	92	P19235	EPOR_HUMAN	C	92	ENSP00000222139:R92C	ENSP00000222139:R92C	R	-	1	0	EPOR	11353759	0.009000	0.17119	0.181000	0.23098	0.421000	0.31385	0.161000	0.16481	-0.322000	0.08615	0.305000	0.20034	CGC		0.672	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			54	172	0	0	0	1	0	54	172				
LIPA	3988	broad.mit.edu	37	10	91007366	91007366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91007366G>T	ENST00000336233.5	-	2	362	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	LIPA_ENST00000456827.1_Missense_Mutation_p.L14I|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	14					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGGGTCCAGAGAACCAAACAG	0.378																																						ENST00000336233.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(40-42)Ctc>Atc		lipase A, lysosomal acid, cholesterol esterase							109.0	107.0	108.0					10																	91007366		2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:91007366G>T	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.40C>A	10.37:g.91007366G>T	ENSP00000337354:p.Leu14Ile					LIPA_ENST00000456827.1_Missense_Mutation_p.L14I|LIPA_ENST00000371837.1_Intron	p.L14I			P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	2	362	-		Colorectal(252;0.0162)	14					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.40C>A	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	G	8.222	0.802607	0.16397	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.77098	-0.46;-0.46;-0.34;-1.07	4.93	3.04	0.35103	.	.	.	.	.	T	0.56093	0.1962	N	0.08118	0	0.20703	N	0.999861	B	0.11235	0.004	B	0.15484	0.013	T	0.41124	-0.9526	9	0.21540	T	0.41	-4.6998	8.0945	0.30820	0.0:0.1734:0.6466:0.18	.	14	P38571	LICH_HUMAN	I	14	ENSP00000337354:L14I;ENSP00000413019:L14I;ENSP00000388415:L14I;ENSP00000282673:L14I	ENSP00000282673:L14I	L	-	1	0	LIPA	90997346	0.932000	0.31603	0.980000	0.43619	0.314000	0.28054	1.957000	0.40392	0.777000	0.33496	0.555000	0.69702	CTC		0.378	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		34	182	1	0	2.51541e-25	1	2.88513e-25	34	182				
CNTNAP5	129684	broad.mit.edu	37	2	125521605	125521605	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125521605T>G	ENST00000431078.1	+	16	2775	c.2411T>G	c.(2410-2412)tTt>tGt	p.F804C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	804	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACCTCCACTTTCCTACCTTC	0.413																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2410-2412)tTt>tGt		contactin associated protein-like 5							133.0	125.0	128.0					2																	125521605		1843	4093	5936	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521605T>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2411T>G	2.37:g.125521605T>G	ENSP00000399013:p.Phe804Cys						p.F804C	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2775	+			804			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2411T>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.356243	0.82243	.	.	ENSG00000155052	ENST00000431078	T	0.45276	0.9	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.52532	D	0.000074	T	0.69314	0.3097	M	0.93328	3.405	0.80722	D	1	D	0.69078	0.997	P	0.57371	0.819	T	0.78902	-0.2021	10	0.87932	D	0	.	15.5036	0.75719	0.0:0.0:0.0:1.0	.	804	Q8WYK1	CNTP5_HUMAN	C	804	ENSP00000399013:F804C	ENSP00000399013:F804C	F	+	2	0	CNTNAP5	125238075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.927000	0.87577	2.263000	0.75096	0.533000	0.62120	TTT		0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			136	309	0	0	0	1	0	136	309				
FAT4	79633	broad.mit.edu	37	4	126241875	126241875	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126241875A>G	ENST00000394329.3	+	1	4322	c.4309A>G	c.(4309-4311)Aca>Gca	p.T1437A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1437	Cadherin 14. {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						TCCCATCGGTACATCTGTCAT	0.418																																						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.(4309-4311)Aca>Gca		FAT atypical cadherin 4							152.0	140.0	144.0					4																	126241875		1904	4126	6030	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241875A>G	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.4309A>G	4.37:g.126241875A>G	ENSP00000377862:p.Thr1437Ala						p.T1437A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4322	+			1437			Cadherin 14.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4309A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504709	0.26949	.	.	ENSG00000196159	ENST00000394329	T	0.57107	0.42	4.87	3.65	0.41850	Cadherin (3);Cadherin-like (1);	0.297436	0.18242	U	0.147212	T	0.45955	0.1368	M	0.63428	1.95	0.58432	D	0.999995	B	0.06786	0.001	B	0.12156	0.007	T	0.28235	-1.0050	10	0.10902	T	0.67	.	10.863	0.46837	0.8588:0.0:0.0:0.1412	.	1437	Q6V0I7	FAT4_HUMAN	A	1437	ENSP00000377862:T1437A	ENSP00000377862:T1437A	T	+	1	0	FAT4	126461325	0.998000	0.40836	0.034000	0.17996	0.930000	0.56654	5.721000	0.68477	0.850000	0.35239	0.533000	0.62120	ACA		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		60	695	0	0	0	1	0	60	695				
ABHD6	57406	broad.mit.edu	37	3	58260429	58260429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58260429G>T	ENST00000478253.1	+	7	1069	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	190					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ACGGCTCAAAGAACTGCAGGG	0.493																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(568-570)Gaa>Taa		abhydrolase domain containing 6							94.0	93.0	93.0					3																	58260429		2203	4300	6503	SO:0001587	stop_gained	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58260429G>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.568G>T	3.37:g.58260429G>T	ENSP00000420315:p.Glu190*					ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*	p.E190*			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	7	1069	+			190					B2R7Y9|Q6ZMF7	Nonsense_Mutation	SNP	ENST00000478253.1	37	c.568G>T	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	39	7.357571	0.98235	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756	.	.	.	5.88	4.99	0.66335	.	0.228966	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.5841	15.9067	0.79436	0.0:0.0:0.8635:0.1365	.	.	.	.	X	190	.	ENSP00000295962:E190X	E	+	1	0	ABHD6	58235469	1.000000	0.71417	0.978000	0.43139	0.928000	0.56348	8.955000	0.93058	1.444000	0.47605	0.655000	0.94253	GAA		0.493	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		74	376	1	0	3.37205e-40	1	4.08638e-40	74	376				
KALRN	8997	broad.mit.edu	37	3	124281736	124281736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124281736C>T	ENST00000393496.1	+	2	259	c.95C>T	c.(94-96)gCg>gTg	p.A32V	KALRN_ENST00000360013.3_Missense_Mutation_p.A1659V			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1659					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCAGTGCGGGCCACAGC	0.637																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4975-4977)gCg>gTg		kalirin, RhoGEF kinase							27.0	30.0	29.0					3																	124281736		2035	4210	6245	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124281736C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.95C>T	3.37:g.124281736C>T	ENSP00000377134:p.Ala32Val					KALRN_ENST00000393496.1_Missense_Mutation_p.A32V	p.A1659V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			34	5103	+			1659			SH3 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000393496.1	37	c.4976C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.399885|3.399885	0.62177|0.62177	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496|ENST00000354186	T;T|.	0.73047|.	-0.71;0.29|.	4.84|4.84	3.95|3.95	0.45737|0.45737	Src homology-3 domain (3);|.	0.316165|.	0.28317|.	N|.	0.015790|.	T|T	0.70395|0.70395	0.3219|0.3219	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.969|.	D;B|.	0.66716|.	0.946;0.413|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.87932|.	D|.	0|.	.|.	15.1527|15.1527	0.72713|0.72713	0.0:0.8582:0.1418:0.0|0.0:0.8582:0.1418:0.0	.|.	32;1659|.	O60229-5;O60229|.	.;KALRN_HUMAN|.	V|W	1659;32|1628	ENSP00000353109:A1659V;ENSP00000377134:A32V|.	ENSP00000353109:A1659V|.	A|R	+|+	2|1	0|2	KALRN|KALRN	125764426|125764426	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.212000|0.212000	0.24457|0.24457	7.606000|7.606000	0.82863|0.82863	1.236000|1.236000	0.43740|0.43740	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.637	KALRN-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000258840.2	NM_003947		33	131	0	0	0	1	0	33	131				
MYT1L	23040	broad.mit.edu	37	2	1926559	1926559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926559C>A	ENST00000399161.2	-	10	1729	c.982G>T	c.(982-984)Gag>Tag	p.E328*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	328					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCAAACACTCCAGACTGCTC	0.512																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(982-984)Gag>Tag		myelin transcription factor 1-like							88.0	94.0	92.0					2																	1926559		2148	4253	6401	SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926559C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.982G>T	2.37:g.1926559C>A	ENSP00000382114:p.Glu328*					MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1729	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	328					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	37	c.982G>T		.	.	.	.	.	.	.	.	.	.	C	44	10.777064	0.99466	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.75	4.88	0.63580	.	0.056711	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-42.0681	14.6267	0.68626	0.0:0.9303:0.0:0.0697	.	.	.	.	X	328;276;328	.	ENSP00000295067:E276X	E	-	1	0	MYT1L	1905566	1.000000	0.71417	0.984000	0.44739	0.651000	0.38670	7.685000	0.84117	1.442000	0.47568	0.655000	0.94253	GAG		0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		115	323	1	0	9.16818e-52	1	1.13871e-51	115	323				
SYT11	23208	broad.mit.edu	37	1	155851195	155851195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851195C>T	ENST00000368324.4	+	4	1445	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	SYT11_ENST00000539162.1_Silent_p.L91L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	398					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GAGGCTGATCCTGGGGGCACA	0.587																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1192-1194)Ctg>Ttg		synaptotagmin XI							136.0	142.0	140.0					1																	155851195		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851195C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1192C>T	1.37:g.155851195C>T						SYT11_ENST00000539162.1_Silent_p.L91L	p.L398L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1445	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		398					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.1192C>T	CCDS1122.1																																																																																				0.587	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		46	1037	0	0	0	1	0	46	1037				
CTCF	10664	broad.mit.edu	37	16	67645871	67645871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67645871C>T	ENST00000264010.4	+	4	1243	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	267					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGACATTCCAGTGTGAGCT	0.388																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(799-801)Cag>Tag		CCCTC-binding factor (zinc finger protein)							131.0	113.0	119.0					16																	67645871		2198	4300	6498	SO:0001587	stop_gained	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645871C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.799C>T	16.37:g.67645871C>T	ENSP00000264010:p.Gln267*					CTCF_ENST00000401394.1_Intron	p.Q267*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	4	1243	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	267					B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	c.799C>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	38	6.867881	0.97897	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	18.8894	0.92392	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000264010:Q267X	Q	+	1	0	CTCF	66203372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	CAG		0.388	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		36	411	0	0	0	1	0	36	411				
EVI5	7813	broad.mit.edu	37	1	93089889	93089889	+	Silent	SNP	G	G	A	rs201748980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93089889G>A	ENST00000370331.1	-	14	1632	c.1623C>T	c.(1621-1623)cgC>cgT	p.R541R	EVI5_ENST00000540033.1_Silent_p.R541R|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.R552R	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	541	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GAGCTAAGTGGCGCTAAAGCA	0.368																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(1621-1623)cgC>cgT		ecotropic viral integration site 5							86.0	75.0	79.0					1																	93089889		2203	4300	6503	SO:0001819	synonymous_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93089889G>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1623C>T	1.37:g.93089889G>A						EVI5_ENST00000543509.1_Silent_p.R552R|EVI5_ENST00000540033.1_Silent_p.R541R|EVI5_ENST00000491940.1_5'UTR	p.R541R	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	14	1632	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	541			Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	c.1623C>T	CCDS30774.1																																																																																				0.368	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		7	224	0	0	0	1	0	7	224				
BMPR2	659	broad.mit.edu	37	2	203417590	203417590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203417590C>T	ENST00000374580.4	+	11	2104	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	BMPR2_ENST00000374574.2_Missense_Mutation_p.S522F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	522					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATCCAATGTCTACTGCTATG	0.418																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(1564-1566)tCt>tTt		bone morphogenetic protein receptor, type II (serine/threonine kinase)							108.0	98.0	102.0					2																	203417590		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203417590C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1565C>T	2.37:g.203417590C>T	ENSP00000363708:p.Ser522Phe					BMPR2_ENST00000374574.2_Missense_Mutation_p.S522F	p.S522F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			11	2104	+			522					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1565C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922814	0.73213	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.89746	-2.56;-2.47	5.48	4.6	0.57074	.	0.345366	0.34802	N	0.003680	D	0.88355	0.6414	L	0.27053	0.805	0.43007	D	0.994533	P;D	0.60160	0.917;0.987	P;P	0.56216	0.603;0.794	D	0.89690	0.3897	10	0.66056	D	0.02	.	14.4135	0.67132	0.0:0.9286:0.0:0.0714	.	522;522	Q13161;Q13873	.;BMPR2_HUMAN	F	522	ENSP00000363708:S522F;ENSP00000363702:S522F	ENSP00000363702:S522F	S	+	2	0	BMPR2	203125835	1.000000	0.71417	0.764000	0.31436	0.897000	0.52465	5.706000	0.68362	1.308000	0.44962	0.491000	0.48974	TCT		0.418	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		9	402	0	0	0	1	0	9	402				
ZNF195	7748	broad.mit.edu	37	11	3381120	3381120	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381120T>G	ENST00000399602.4	-	6	1244	c.1118A>C	c.(1117-1119)cAg>cCg	p.Q373P	ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Missense_Mutation_p.Q301P|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	373				Missing (in Ref. 2; BAD18466). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGAATCATCTGTTGATTAGA	0.423																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(901-903)cAg>cCg		zinc finger protein 195							126.0	117.0	120.0					11																	3381120		1895	4114	6009	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381120T>G		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1118A>C	11.37:g.3381120T>G	ENSP00000382511:p.Gln373Pro					ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P|ZNF195_ENST00000399602.4_Missense_Mutation_p.Q373P|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P	p.Q301P	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1006	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	373					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.902A>C	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	t	10.45	1.354863	0.24512	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	0.501	0.501	0.16925	.	.	.	.	.	T	0.36524	0.0970	M	0.82823	2.61	0.23070	N	0.998342	P;P;D;P;P;P	0.53462	0.597;0.797;0.96;0.871;0.824;0.871	P;B;D;B;P;B	0.64237	0.679;0.088;0.923;0.18;0.84;0.18	T	0.10268	-1.0637	9	0.87932	D	0	.	5.265	0.15593	0.0:1.0E-4:0.0:0.9999	.	354;232;350;305;373;301	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	P	301;373;305;305;350;354	ENSP00000346613:Q301P;ENSP00000382511:Q373P;ENSP00000344483:Q305P;ENSP00000387998:Q305P;ENSP00000005082:Q350P;ENSP00000435828:Q354P	ENSP00000005082:Q350P	Q	-	2	0	ZNF195	3337696	0.000000	0.05858	0.005000	0.12908	0.054000	0.15201	0.053000	0.14184	0.431000	0.26258	0.254000	0.18369	CAG		0.423	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			148	642	0	0	0	1	0	148	642				
FLT1	2321	broad.mit.edu	37	13	28964088	28964088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28964088C>T	ENST00000282397.4	-	13	2065	c.1814G>A	c.(1813-1815)aGc>aAc	p.S605N	FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	605	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGCTTGCTAATACTGTA	0.418																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1813-1815)aGc>aAc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						302.0	254.0	270.0					13																	28964088		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28964088C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1814G>A	13.37:g.28964088C>T	ENSP00000282397:p.Ser605Asn					FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	p.S605N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	13	2065	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	605			Ig-like C2-type 6.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1814G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257874	0.39896	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.75938	-0.98;-0.42	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.545972	0.21229	N	0.078019	T	0.69682	0.3138	L	0.46157	1.445	0.80722	D	1	B;B;P	0.37594	0.077;0.029;0.601	B;B;B	0.36719	0.046;0.046;0.231	T	0.65582	-0.6133	10	0.22706	T	0.39	.	18.1336	0.89610	0.0:1.0:0.0:0.0	.	605;605;605	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	N	605	ENSP00000282397:S605N;ENSP00000437631:S605N	ENSP00000282397:S605N	S	-	2	0	FLT1	27862088	0.982000	0.34865	0.953000	0.39169	0.981000	0.71138	1.841000	0.39240	2.880000	0.98712	0.650000	0.86243	AGC		0.418	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			28	677	0	0	0	1	0	28	677				
CD7	924	broad.mit.edu	37	17	80274664	80274664	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80274664C>A	ENST00000312648.3	-	2	382	c.276G>T	c.(274-276)ggG>ggT	p.G92G	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000584284.1_Silent_p.G92G|CD7_ENST00000583376.1_5'UTR	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	92	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGTCCTGGGACCCTGAGAAGT	0.622																																					Pancreas(45;804 1068 19702 28207 28798)	ENST00000584284.1																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.(274-276)ggG>ggT		CD7 molecule							127.0	115.0	119.0					17																	80274664		2203	4300	6503	SO:0001819	synonymous_variant	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274664C>A	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.276G>T	17.37:g.80274664C>A						CD7_ENST00000583376.1_5'UTR|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Silent_p.G92G	p.G92G			P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		2	357	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		92			Ig-like.			Silent	SNP	ENST00000312648.3	37	c.276G>T	CCDS11807.1																																																																																				0.622	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		148	687	1	0	1.91924e-68	1	2.4338e-68	148	687				
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T	rs369334993		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(955-957)cGt>cAt		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	142.0	124.0	130.0		779,779,929,911,803,956	5.1	1.0	15		130	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	29,29,29,29,29,29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/1092,260/1092,310/1142,304/1136,268/1100,319/1151	34546711	1,12997	2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34546711C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.956G>A	15.37:g.34546711C>T	ENSP00000346112:p.Arg319His					SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H	p.R319H			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	9	1448	-		all_lung(180;2.78e-08)	319					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.956G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421433	0.96111	2.27E-4	0.0	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.86366	-2.1;-2.11;-2.11;-2.11;-1.59	5.1	5.1	0.69264	Amino acid permease domain (1);	0.063721	0.64402	N	0.000006	D	0.95601	0.8570	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;0.999;1.0	D	0.96738	0.9544	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	304;319;268;131	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	268;304;310;260;260;131	ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H	ENSP00000290209:R268H	R	-	2	0	SLC12A6	32334003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	CGT		0.453	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		49	200	0	0	0	1	0	49	200				
BICD1	636	broad.mit.edu	37	12	32490443	32490443	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32490443T>C	ENST00000281474.5	+	7	2366	c.2263T>C	c.(2263-2265)Tat>Cat	p.Y755H	BICD1_ENST00000548411.1_Missense_Mutation_p.Y755H	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	755	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATGTGATGAATATGTCACCCA	0.403																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(2263-2265)Tat>Cat		bicaudal D homolog 1 (Drosophila)							91.0	86.0	88.0					12																	32490443		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32490443T>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2263T>C	12.37:g.32490443T>C	ENSP00000281474:p.Tyr755His					BICD1_ENST00000281474.5_Missense_Mutation_p.Y755H	p.Y755H	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		7	2444	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		755			Interacts with RAB6A.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.2263T>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631919	0.67015	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.78123	0.4234	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.79431	-0.1806	10	0.31617	T	0.26	.	14.2758	0.66179	0.0:0.0:0.0:1.0	.	755;755	F8W113;Q96G01	.;BICD1_HUMAN	H	755	ENSP00000446793:Y755H;ENSP00000281474:Y755H	ENSP00000281474:Y755H	Y	+	1	0	BICD1	32381710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.600000	0.82769	1.968000	0.57251	0.482000	0.46254	TAT		0.403	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		85	345	0	0	0	1	0	85	345				
RNF19B	127544	broad.mit.edu	37	1	33412058	33412058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33412058G>T	ENST00000373456.7	-	4	1093	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D	RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D|RNF19B_ENST00000356990.5_Missense_Mutation_p.A364D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	365					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCAATGCCAGCAATGAGAGA	0.473																																						ENST00000356990.5																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1090-1092)gCt>gAt		ring finger protein 19B							95.0	77.0	83.0					1																	33412058		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33412058G>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1094C>A	1.37:g.33412058G>T	ENSP00000362555:p.Ala365Asp					RNF19B_ENST00000373456.7_Missense_Mutation_p.A365D|RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D	p.A364D	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			4	1090	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	365					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1091C>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517053	0.85495	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.39056	1.1;1.18;1.11	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.81942	2.565	0.80722	D	1	D;B;D	0.89917	1.0;0.125;1.0	D;B;D	0.91635	0.999;0.028;0.999	T	0.73560	-0.3944	10	0.87932	D	0	.	16.1114	0.81266	0.0:0.0:0.8652:0.1348	.	364;365;364	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	D	365;364;364;263	ENSP00000362555:A365D;ENSP00000349482:A364D;ENSP00000235150:A364D	ENSP00000235150:A364D	A	-	2	0	RNF19B	33184645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.781000	0.99029	1.456000	0.47831	0.563000	0.77884	GCT		0.473	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		33	125	1	0	9.04072e-19	1	1.00536e-18	33	125				
PRDM8	56978	broad.mit.edu	37	4	81123374	81123374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81123374G>T	ENST00000504452.1	+	8	1597	c.758G>T	c.(757-759)aGc>aTc	p.S253I	PRDM8_ENST00000339711.4_Missense_Mutation_p.S253I|PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	253	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCGGCGGCAGCAGCGCGAAG	0.672											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(757-759)aGc>aTc		PR domain containing 8							19.0	26.0	24.0					4																	81123374		1583	3656	5239	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123374G>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.758G>T	4.37:g.81123374G>T	ENSP00000423985:p.Ser253Ile		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I|PRDM8_ENST00000504452.1_Missense_Mutation_p.S253I	p.S253I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1989	+			253			Gly-rich.|Ser-rich.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.758G>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464675	0.12402	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65178	-0.14;0.43;-0.14;-0.14	4.52	0.658	0.17855	.	0.584987	0.17590	U	0.168790	T	0.37679	0.1012	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.14023	0.01	T	0.19516	-1.0303	10	0.56958	D	0.05	.	4.8306	0.13437	0.1974:0.3288:0.4738:0.0	.	253	Q9NQV8	PRDM8_HUMAN	I	253	ENSP00000423985:S253I;ENSP00000425149:S253I;ENSP00000339764:S253I;ENSP00000406998:S253I	ENSP00000339764:S253I	S	+	2	0	PRDM8	81342398	0.124000	0.22315	0.000000	0.03702	0.187000	0.23431	0.082000	0.14847	-0.089000	0.12484	0.313000	0.20887	AGC		0.672	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			49	300	1	0	9.86064e-34	1	1.16979e-33	49	300				
NCOR2	9612	broad.mit.edu	37	12	124826572	124826572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124826572G>A	ENST00000405201.1	-	34	4985	c.4985C>T	c.(4984-4986)cCg>cTg	p.P1662L	NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000356219.3_Missense_Mutation_p.P1669L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACAGGTGCGGGTAGGTGGG	0.652																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5005-5007)cCg>cTg		nuclear receptor corepressor 2							39.0	47.0	44.0					12																	124826572		2065	4190	6255	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124826572G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4985C>T	12.37:g.124826572G>A	ENSP00000384018:p.Pro1662Leu					NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1662L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L	p.P1669L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	35	5161	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1670					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.5006C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868059	0.72065	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.23	4.23	0.50019	.	0.065092	0.64402	D	0.000006	T	0.66416	0.2787	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.71823	-0.4476	10	0.87932	D	0	-22.6781	16.6063	0.84830	0.0:0.0:1.0:0.0	.	1652;1653;1662	C9J0Q5;C9J239;C9JFD3	.;.;.	L	1662;1652;1669;1653;1661;1223;1652	ENSP00000384018:P1662L;ENSP00000384202:P1652L;ENSP00000348551:P1669L;ENSP00000380513:P1653L;ENSP00000385618:P1223L;ENSP00000400281:P1652L	ENSP00000348551:P1669L	P	-	2	0	NCOR2	123392525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.737000	0.84957	1.895000	0.54865	0.491000	0.48974	CCG		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		37	276	0	0	0	1	0	37	276				
TBRG4	9238	broad.mit.edu	37	7	45145255	45145255	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45145255A>G	ENST00000258770.3	-	3	641	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R|TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	174					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CGCATGCGCCAGCGGACCTCC	0.632																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(520-522)Tgg>Cgg		transforming growth factor beta regulator 4							74.0	71.0	72.0					7																	45145255		2203	4300	6503	SO:0001583	missense	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45145255A>G	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.520T>C	7.37:g.45145255A>G	ENSP00000258770:p.Trp174Arg					TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R|TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R	p.W174R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			3	641	-			174					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	c.520T>C	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796521	0.70567	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.76328	2.33	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.996;0.999;0.934	T	0.59010	-0.7534	10	0.10636	T	0.68	.	13.4467	0.61144	1.0:0.0:0.0:0.0	.	185;174;174	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	R	174;174;174;174;139;120	ENSP00000258770:W174R;ENSP00000354992:W174R;ENSP00000379016:W174R;ENSP00000420597:W174R;ENSP00000418631:W139R;ENSP00000417743:W120R	ENSP00000258770:W174R	W	-	1	0	TBRG4	45111780	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.126000	0.89592	2.195000	0.70347	0.533000	0.62120	TGG		0.632	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		85	358	0	0	0	1	0	85	358				
SERPINE2	5270	broad.mit.edu	37	2	224866571	224866571	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224866571G>T	ENST00000258405.4	-	2	289	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H|SERPINE2_ENST00000409840.3_Missense_Mutation_p.P16H|SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	16					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGATGGAAGGCAGCGTCAC	0.483																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(46-48)cCt>cAt		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							103.0	114.0	110.0					2																	224866571		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866571G>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.47C>A	2.37:g.224866571G>T	ENSP00000258405:p.Pro16His					SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H|SERPINE2_ENST00000258405.4_Missense_Mutation_p.P16H|SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H	p.P16H			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	707	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	16					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.47C>A	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982535	0.18889	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;T;D	0.84730	-1.88;-0.89;-1.88;-1.89;-1.48;-1.61	5.17	4.28	0.50868	Serpin domain (1);	0.803013	0.11963	N	0.512566	T	0.68997	0.3062	N	0.08118	0	0.09310	N	1	P;P	0.35923	0.528;0.528	B;B	0.33521	0.165;0.165	T	0.55515	-0.8129	10	0.15066	T	0.55	.	10.7667	0.46297	0.0706:0.0:0.7983:0.1311	.	28;16	B4DIF2;P07093	.;GDN_HUMAN	H	16;16;16;28;16;16;16	ENSP00000386412:P16H;ENSP00000258405:P16H;ENSP00000386969:P16H;ENSP00000415786:P28H;ENSP00000408452:P16H;ENSP00000399655:P16H	ENSP00000258405:P16H	P	-	2	0	SERPINE2	224574815	0.995000	0.38212	0.228000	0.23943	0.098000	0.18820	3.601000	0.54059	1.269000	0.44280	0.655000	0.94253	CCT		0.483	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		80	473	1	0	4.05715e-38	1	4.88277e-38	80	473				
COL5A3	50509	broad.mit.edu	37	19	10091784	10091784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10091784C>T	ENST00000264828.3	-	33	2570	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	829	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGCTCTCCTTCCAGGCCTGGC	0.522																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2485-2487)Gaa>Aaa		collagen, type V, alpha 3							106.0	91.0	96.0					19																	10091784		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10091784C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2485G>A	19.37:g.10091784C>T	ENSP00000264828:p.Glu829Lys						p.E829K	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		33	2570	-			829			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2485G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841790	0.51057	.	.	ENSG00000080573	ENST00000264828	D	0.94376	-3.41	4.81	4.81	0.61882	.	0.234079	0.35262	N	0.003334	T	0.76758	0.4032	N	0.00656	-1.285	0.30216	N	0.797247	B	0.29481	0.245	B	0.31946	0.138	T	0.72184	-0.4367	10	0.06494	T	0.89	.	11.3128	0.49375	0.0:0.8155:0.1845:0.0	.	829	P25940	CO5A3_HUMAN	K	829	ENSP00000264828:E829K	ENSP00000264828:E829K	E	-	1	0	COL5A3	9952784	0.751000	0.28327	0.958000	0.39756	0.716000	0.41182	1.691000	0.37721	2.220000	0.72140	0.313000	0.20887	GAA		0.522	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		80	315	0	0	0	1	0	80	315				
TLN1	7094	broad.mit.edu	37	9	35707247	35707247	+	Missense_Mutation	SNP	G	G	A	rs267602229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35707247G>A	ENST00000314888.9	-	37	5130	c.4777C>T	c.(4777-4779)Cgg>Tgg	p.R1593W	TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1593	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCAGCCCGACCCTGGGGA	0.607																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4777-4779)Cgg>Tgg		talin 1							39.0	45.0	43.0					9																	35707247		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707247G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4777C>T	9.37:g.35707247G>A	ENSP00000316029:p.Arg1593Trp					TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W|TLN1_ENST00000464379.1_Intron	p.R1593W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		37	5130	-	all_epithelial(49;0.167)		1593			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4777C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227786	0.58668	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70986	-0.51;-0.53	5.69	3.84	0.44239	.	0.248692	0.42053	N	0.000764	T	0.72867	0.3514	M	0.73217	2.22	0.46298	D	0.998973	D	0.67145	0.996	P	0.51487	0.671	T	0.72584	-0.4249	10	0.62326	D	0.03	-10.573	6.5407	0.22378	0.0692:0.1302:0.6655:0.1351	.	1593	Q9Y490	TLN1_HUMAN	W	1593	ENSP00000316029:R1593W;ENSP00000442981:R1593W	ENSP00000316029:R1593W	R	-	1	2	TLN1	35697247	0.265000	0.24102	0.998000	0.56505	0.738000	0.42128	2.769000	0.47654	0.744000	0.32741	0.561000	0.74099	CGG		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		52	363	0	0	0	1	0	52	363				
ASPM	259266	broad.mit.edu	37	1	197099113	197099113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197099113C>T	ENST00000367409.4	-	8	2817	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	ASPM_ENST00000367408.1_Missense_Mutation_p.R104H|ASPM_ENST00000294732.7_Missense_Mutation_p.R854H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	854					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R854H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCAAAGTAGGCGATTCAGAAT	0.408																																						ENST00000367409.4																			1	Substitution - Missense(1)	p.R854H(1)	large_intestine(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2560-2562)cGc>cAc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							155.0	141.0	146.0					1																	197099113		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197099113C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2561G>A	1.37:g.197099113C>T	ENSP00000356379:p.Arg854His					ASPM_ENST00000367408.1_Missense_Mutation_p.R104H|ASPM_ENST00000294732.7_Missense_Mutation_p.R854H	p.R854H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			8	2817	-			854					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2561G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478088	0.96291	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60920	0.15;0.15;0.15	5.47	5.47	0.80525	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76315	-0.3004	10	0.46703	T	0.11	.	19.2852	0.94067	0.0:1.0:0.0:0.0	.	854;854	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	854;854;104	ENSP00000356379:R854H;ENSP00000294732:R854H;ENSP00000356378:R104H	ENSP00000294732:R854H	R	-	2	0	ASPM	195365736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.708000	0.92522	0.650000	0.86243	CGC		0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	478	0	0	0	1	0	9	478				
ZNF808	388558	broad.mit.edu	37	19	53058088	53058088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53058088G>A	ENST00000359798.4	+	5	2099	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCTGGCACGACATACAAGA	0.408																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1918-1920)cGa>cAa		zinc finger protein 808							66.0	70.0	69.0					19																	53058088		2201	4299	6500	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058088G>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1919G>A	19.37:g.53058088G>A	ENSP00000352846:p.Arg640Gln						p.R640Q	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2099	+			640					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1919G>A	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.680	-0.798472	0.02841	.	.	ENSG00000198482	ENST00000359798	T	0.07216	3.21	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.25201	0.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45702	-0.9243	9	0.12430	T	0.62	.	3.3187	0.07043	0.2243:0.0:0.2726:0.503	.	640	Q8N4W9	ZN808_HUMAN	Q	640	ENSP00000352846:R640Q	ENSP00000352846:R640Q	R	+	2	0	ZNF808	57749900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.414000	0.00021	-1.761000	0.01310	-0.752000	0.03492	CGA		0.408	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		81	310	0	0	0	1	0	81	310				
ZNF648	127665	broad.mit.edu	37	1	182026331	182026331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026331C>T	ENST00000339948.3	-	2	1022	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCGCCGCCGCGCGTCTCCGC	0.751																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(814-816)cGc>cAc		zinc finger protein 648							8.0	9.0	8.0					1																	182026331		2135	4137	6272	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026331C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.815G>A	1.37:g.182026331C>T	ENSP00000344129:p.Arg272His						p.R272H	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	1022	-			272					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.815G>A	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152330	0.06585	.	.	ENSG00000179930	ENST00000339948	T	0.07688	3.17	2.55	-2.26	0.06867	.	.	.	.	.	T	0.01124	0.0037	N	0.00166	-1.94	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41980	-0.9478	9	0.02654	T	1	.	1.1703	0.01824	0.1593:0.2618:0.3501:0.2288	.	272	Q5T619	ZN648_HUMAN	H	272	ENSP00000344129:R272H	ENSP00000344129:R272H	R	-	2	0	ZNF648	180292954	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	0.012000	0.13287	-0.531000	0.06340	0.655000	0.94253	CGC		0.751	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		18	63	0	0	0	1	0	18	63				
EXOSC3	51010	broad.mit.edu	37	9	37782101	37782101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37782101C>T	ENST00000327304.5	-	3	520	c.508G>A	c.(508-510)Gct>Act	p.A170T	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_Intron|EXOSC3_ENST00000396521.3_Intron	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	170					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCTTTATTAGCAACCACAAAC	0.423																																						ENST00000327304.5																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(508-510)Gct>Act		exosome component 3							81.0	76.0	78.0					9																	37782101		2203	4300	6503	SO:0001583	missense	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37782101C>T	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"""exosome component Rrp40"", ""CGI-102 protein"""	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.508G>A	9.37:g.37782101C>T	ENSP00000323046:p.Ala170Thr					EXOSC3_ENST00000396521.3_Intron|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_Intron	p.A170T	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	3	520	-			170					A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	ENST00000327304.5	37	c.508G>A	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	C	35	5.536122	0.96460	.	.	ENSG00000107371	ENST00000327304	T	0.17854	2.25	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02758	-1.1114	10	0.33940	T	0.23	-1.419	17.2324	0.86988	0.0:1.0:0.0:0.0	.	170	Q9NQT5	EXOS3_HUMAN	T	170	ENSP00000323046:A170T	ENSP00000323046:A170T	A	-	1	0	EXOSC3	37772101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.801000	0.85960	2.733000	0.93635	0.655000	0.94253	GCT		0.423	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		38	315	0	0	0	1	0	38	315				
ROS1	6098	broad.mit.edu	37	6	117746757	117746757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117746757C>T	ENST00000368508.3	-	1	261	c.63G>A	c.(61-63)tgG>tgA	p.W21*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	21					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACAGAAATCCATAGGCAGC	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(61-63)tgG>tgA		c-ros oncogene 1 , receptor tyrosine kinase							126.0	124.0	125.0					6																	117746757		2203	4300	6503	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117746757C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.63G>A	6.37:g.117746757C>T	ENSP00000357494:p.Trp21*					ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*|GOPC_ENST00000467125.1_Intron	p.W21*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	1	261	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	21					Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.63G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	38	7.047808	0.98025	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.11	4.24	0.50183	.	0.289012	0.25848	N	0.027918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5281	0.39175	0.0:0.9049:0.0:0.0951	.	.	.	.	X	21	.	ENSP00000357493:W21X	W	-	3	0	ROS1	117853450	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.880000	0.56145	1.529000	0.49120	0.655000	0.94253	TGG		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			95	506	0	0	0	1	0	95	506				
MAMLD1	10046	broad.mit.edu	37	X	149638350	149638350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149638350G>A	ENST00000370401.2	+	4	815	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	169					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V96L(1)|p.V144L(1)|p.V169L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAACAGCGTGCCGGCTGT	0.478																																						ENST00000370401.2																			3	Substitution - Missense(3)	p.V96L(1)|p.V144L(1)|p.V169L(1)	lung(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(505-507)Gtg>Atg		mastermind-like domain containing 1							64.0	62.0	63.0					X																	149638350		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638350G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.505G>A	X.37:g.149638350G>A	ENSP00000359428:p.Val169Met					MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M|MAMLD1_ENST00000468306.1_3'UTR	p.V169M			Q13495	MAMD1_HUMAN			4	815	+	Acute lymphoblastic leukemia(192;6.56e-05)		169					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.505G>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.280684	0.00254	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.65178	0.21;-0.14;0.21;0.23	5.36	-10.7	0.00240	.	1.563870	0.03344	N	0.195271	T	0.33235	0.0856	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26258	0.116;0.032;0.002;0.145	B;B;B;B	0.18871	0.023;0.014;0.004;0.014	T	0.30149	-0.9988	10	0.35671	T	0.21	0.5407	6.6423	0.22917	0.6297:0.1798:0.0807:0.1098	.	131;144;144;169	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	M	131;169;144;169;144	ENSP00000359428:V169M;ENSP00000414517:V144M;ENSP00000262858:V169M;ENSP00000397438:V144M	ENSP00000262858:V169M	V	+	1	0	MAMLD1	149389008	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.262000	0.01175	-3.170000	0.00225	-1.158000	0.01797	GTG		0.478	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		121	362	0	0	0	1	0	121	362				
DNAI2	64446	broad.mit.edu	37	17	72308348	72308348	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72308348C>T	ENST00000311014.6	+	12	1768	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	DNAI2_ENST00000582036.1_Silent_p.A555A|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Silent_p.A567A|DNAI2_ENST00000579490.1_Silent_p.A624A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	567					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCAGACGCCATAAAGCTGA	0.607									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1870-1872)gcC>gcT		dynein, axonemal, intermediate chain 2							42.0	32.0	35.0					17																	72308348		2203	4299	6502	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308348C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1701C>T	17.37:g.72308348C>T						DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000582036.1_Silent_p.A555A|DNAI2_ENST00000446837.2_Silent_p.A567A|DNAI2_ENST00000311014.6_Silent_p.A567A	p.A624A			Q9GZS0	DNAI2_HUMAN			11	2007	+			567					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1872C>T	CCDS11697.1																																																																																				0.607	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		12	98	0	0	0	1	0	12	98				
MERTK	10461	broad.mit.edu	37	2	112766019	112766019	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112766019G>T	ENST00000295408.4	+	14	2184	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y|MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCATGAAAGACTTCAGCCA	0.478																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(1927-1929)Gac>Tac		c-mer proto-oncogene tyrosine kinase							114.0	102.0	106.0					2																	112766019		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112766019G>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1927G>T	2.37:g.112766019G>T	ENSP00000295408:p.Asp643Tyr					MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y|MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y	p.D643Y			Q12866	MERTK_HUMAN			14	2184	+			643			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1927G>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628837	0.87560	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	D;D;D	0.82984	-1.67;-1.67;-1.67	5.96	5.96	0.96718	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33553	U	0.004800	D	0.88503	0.6454	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88800	0.3284	10	0.87932	D	0	-41.4143	19.1828	0.93630	0.0:0.0:1.0:0.0	.	643	Q12866	MERTK_HUMAN	Y	643;643;285;467	ENSP00000295408:D643Y;ENSP00000389152:D643Y;ENSP00000387277:D467Y	ENSP00000295408:D643Y	D	+	1	0	MERTK	112482490	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.582000	0.90791	2.829000	0.97493	0.579000	0.79373	GAC		0.478	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			68	243	1	0	1.64915e-30	1	1.93527e-30	68	243				
DUOX2	50506	broad.mit.edu	37	15	45394056	45394056	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45394056C>T	ENST00000603300.1	-	21	2988	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R929Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	929	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCATGGTCCCGCAGCATGAA	0.587																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(2785-2787)cGg>cAg		dual oxidase 2							140.0	115.0	124.0					15																	45394056		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45394056C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2786G>A	15.37:g.45394056C>T	ENSP00000475084:p.Arg929Gln					DUOX2_ENST00000603300.1_Missense_Mutation_p.R929Q	p.R929Q			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	21	3171	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	929			EF-hand 3.		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2786G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506816	0.64410	.	.	ENSG00000140279	ENST00000389039	.	.	.	6.08	6.08	0.98989	EF-hand-like domain (1);	0.312746	0.33534	N	0.004807	T	0.29389	0.0732	N	0.22421	0.69	0.49051	D	0.999741	P;P	0.47604	0.812;0.898	B;B	0.35073	0.105;0.195	T	0.06954	-1.0798	9	0.23302	T	0.38	-29.9214	12.8954	0.58095	0.0:0.9266:0.0:0.0734	.	929;491	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	Q	929	.	ENSP00000373691:R929Q	R	-	2	0	DUOX2	43181348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.477000	0.45180	2.894000	0.99253	0.655000	0.94253	CGG		0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		9	327	0	0	0	1	0	9	327				
MMP7	4316	broad.mit.edu	37	11	102394121	102394121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102394121G>T	ENST00000260227.4	-	5	677	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	209					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GCAGCATACAGGAAGTTAATC	0.343																																						ENST00000260227.4																			0				large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(625-627)Ctg>Atg		matrix metallopeptidase 7 (matrilysin, uterine)							94.0	87.0	89.0					11																	102394121		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102394121G>T	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.625C>A	11.37:g.102394121G>T	ENSP00000260227:p.Leu209Met						p.L209M	NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	5	677	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	209					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.625C>A	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877973	0.51801	.	.	ENSG00000137673	ENST00000260227	T	0.22539	1.95	5.23	1.88	0.25563	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.722580	0.11909	N	0.517868	T	0.42944	0.1225	M	0.79475	2.455	0.09310	N	0.999992	D	0.89917	1.0	D	0.77004	0.989	T	0.12682	-1.0538	10	0.87932	D	0	-2.0711	6.7537	0.23501	0.4982:0.0:0.5018:0.0	.	209	P09237	MMP7_HUMAN	M	209	ENSP00000260227:L209M	ENSP00000260227:L209M	L	-	1	2	MMP7	101899331	.	.	0.384000	0.26145	0.945000	0.59286	.	.	0.609000	0.30018	0.557000	0.71058	CTG		0.343	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			68	261	1	0	3.28884e-47	1	4.04649e-47	68	261				
LYPD1	116372	broad.mit.edu	37	2	133403818	133403818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133403818C>A	ENST00000397463.2	-	3	498	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S|GPR39_ENST00000329321.3_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	76	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						ATGAGACAGGCCGCTGATGAT	0.552																																						ENST00000397463.2																			0				lung(2)	2						c.(226-228)Gcc>Tcc		LY6/PLAUR domain containing 1							52.0	60.0	57.0					2																	133403818		2129	4237	6366	SO:0001583	missense	116372					anchored to membrane|plasma membrane		g.chr2:133403818C>A	AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.226G>T	2.37:g.133403818C>A	ENSP00000380605:p.Ala76Ser					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S|GPR39_ENST00000329321.3_3'UTR	p.A76S	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN			3	498	-			76			UPAR/Ly6.		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	ENST00000397463.2	37	c.226G>T	CCDS42759.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372246	0.95923	.	.	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.86956	-2.19;-2.19	5.7	5.7	0.88788	Ly-6 antigen / uPA receptor -like (1);	0.128766	0.52532	D	0.000077	D	0.89588	0.6758	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91025	0.4860	10	0.87932	D	0	-8.1411	19.8936	0.96942	0.0:1.0:0.0:0.0	.	76;92	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	S	99;76;24	ENSP00000380605:A76S;ENSP00000340563:A24S	ENSP00000340563:A24S	A	-	1	0	LYPD1	133120288	1.000000	0.71417	0.964000	0.40570	0.874000	0.50279	7.601000	0.82783	2.716000	0.92895	0.650000	0.86243	GCC		0.552	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		20	191	1	0	1.64113e-05	1	1.68037e-05	20	191				
PTK6	5753	broad.mit.edu	37	20	62164956	62164956	+	Silent	SNP	G	G	A	rs61736391	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62164956G>A	ENST00000217185.2	-	4	645	c.618C>T	c.(616-618)ttC>ttT	p.F206F	PTK6_ENST00000542869.1_Silent_p.F105F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	AGAGCCCCTCGAAGACCTCCC	0.647																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(616-618)ttC>ttT		protein tyrosine kinase 6							82.0	87.0	85.0					20																	62164956		2203	4300	6503	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62164956G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.618C>T	20.37:g.62164956G>A						PTK6_ENST00000542869.1_Silent_p.F105F	p.F206F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		4	645	-	all_cancers(38;2.51e-11)		206			Protein kinase.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.618C>T	CCDS13524.1																																																																																				0.647	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			93	529	0	0	0	1	0	93	529				
LANCL2	55915	broad.mit.edu	37	7	55459508	55459508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55459508G>A	ENST00000254770.2	+	2	805	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	76					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TTCATAAGACGGATCCAGACC	0.388																																						ENST00000254770.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(226-228)cGg>cAg		LanC lantibiotic synthetase component C-like 2 (bacterial)							73.0	73.0	73.0					7																	55459508		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55459508G>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.227G>A	7.37:g.55459508G>A	ENSP00000254770:p.Arg76Gln						p.R76Q	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		2	805	+	Breast(14;0.0379)		76					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.227G>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300651	0.40694	.	.	ENSG00000132434	ENST00000254770	T	0.42513	0.97	5.79	3.9	0.45041	Six-hairpin glycosidase-like (1);	0.240562	0.38436	N	0.001685	T	0.39784	0.1091	M	0.68593	2.085	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.31752	-0.9932	10	0.40728	T	0.16	.	10.5505	0.45085	0.1686:0.0:0.8314:0.0	.	76	Q9NS86	LANC2_HUMAN	Q	76	ENSP00000254770:R76Q	ENSP00000254770:R76Q	R	+	2	0	LANCL2	55427002	0.150000	0.22732	0.046000	0.18839	0.722000	0.41435	1.608000	0.36847	1.359000	0.45940	0.655000	0.94253	CGG		0.388	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		5	198	0	0	0	1	0	5	198				
ITGAD	3681	broad.mit.edu	37	16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCCCCCCGCTACCAGCAT	0.642																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1273-1275)cGc>cAc		integrin, alpha D							39.0	39.0	39.0					16																	31422117		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422117G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1274G>A	16.37:g.31422117G>A	ENSP00000373854:p.Arg425His						p.R425H	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			12	1323	+			425					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1274G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.759141	0.49468	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.41065	1.01	4.4	2.15	0.27550	.	.	.	.	.	T	0.72606	0.3481	H	0.96691	3.865	0.22656	N	0.998881	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62397	-0.6863	9	0.87932	D	0	.	8.4812	0.33043	0.2178:0.0:0.7822:0.0	.	441;425	Q59H14;Q13349	.;ITAD_HUMAN	H	441;425	ENSP00000373854:R425H	ENSP00000373854:R425H	R	+	2	0	ITGAD	31329618	0.835000	0.29415	0.993000	0.49108	0.220000	0.24768	3.197000	0.51028	0.187000	0.20147	0.197000	0.17608	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		70	292	0	0	0	1	0	70	292				
ARHGEF40	55701	broad.mit.edu	37	14	21547044	21547044	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21547044C>A	ENST00000298694.4	+	11	2375	c.2248C>A	c.(2248-2250)Ctg>Atg	p.L750M	ARHGEF40_ENST00000298693.3_Splice_Site_p.L750M			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	750						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTTCCCAAGGCTGGAGGGCCA	0.552																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.e11-1		Rho guanine nucleotide exchange factor (GEF) 40							71.0	66.0	68.0					14																	21547044		2203	4300	6503	SO:0001630	splice_region_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21547044C>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2247-1C>A	14.37:g.21547044C>A						ARHGEF40_ENST00000298693.3_Splice_Site_p.L750_splice	p.L750_splice			Q8TER5	ARH40_HUMAN			11	2375	+			750					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Splice_Site	SNP	ENST00000298694.4	37	c.2246_splice	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767847	0.31320	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02498	4.33;4.27	5.16	2.16	0.27623	.	0.000000	0.40385	N	0.001107	T	0.08492	0.0211	L	0.54323	1.7	0.27837	N	0.941243	D;D	0.69078	0.997;0.995	D;D	0.77004	0.989;0.979	T	0.03773	-1.1005	10	0.59425	D	0.04	.	6.0427	0.19742	0.0:0.6838:0.0:0.3162	.	750;750	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	M	750	ENSP00000298694:L750M;ENSP00000298693:L750M	ENSP00000298693:L750M	L	+	1	2	ARHGEF40	20616884	0.990000	0.36364	0.994000	0.49952	0.095000	0.18619	0.077000	0.14738	0.769000	0.33313	0.462000	0.41574	CTG		0.552	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		Missense_Mutation	32	222	1	0	4.11147e-13	1	4.43253e-13	32	222				
PKHD1L1	93035	broad.mit.edu	37	8	110478873	110478873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478873C>A	ENST00000378402.5	+	50	8584	c.8480C>A	c.(8479-8481)gCt>gAt	p.A2827D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2827					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTCAGGAAGCTGAGTGGAGC	0.448										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8479-8481)gCt>gAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							98.0	91.0	93.0					8																	110478873		1954	4168	6122	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110478873C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8480C>A	8.37:g.110478873C>A	ENSP00000367655:p.Ala2827Asp	HNSCC(38;0.096)					p.A2827D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		50	8584	+			2827					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8480C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338684	0.24253	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.16	4.26	0.50523	.	0.606576	0.16114	N	0.228944	T	0.80330	0.4603	L	0.48642	1.525	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.62539	-0.6833	10	0.11485	T	0.65	.	8.8625	0.35267	0.3014:0.553:0.1456:0.0	.	2827	Q86WI1	PKHL1_HUMAN	D	2827	ENSP00000367655:A2827D	ENSP00000367655:A2827D	A	+	2	0	PKHD1L1	110548049	0.002000	0.14202	0.098000	0.21074	0.605000	0.37080	1.615000	0.36922	1.597000	0.50072	0.650000	0.86243	GCT		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		10	68	1	0	1.76689e-08	1	1.84553e-08	10	68				
ERVW-1	30816	broad.mit.edu	37	7	92098212	92098212	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92098212G>T	ENST00000493463.2	-	1	2407	c.1484C>A	c.(1483-1485)aCt>aAt	p.T495N	ERVW-1_ENST00000603053.1_Missense_Mutation_p.T495N|ERVW-1_ENST00000604270.1_5'UTR|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	495					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						gtagatcttagtcttggactg	0.488																																						ENST00000493463.2																			0				endometrium(1)|large_intestine(1)|lung(15)	17						c.(1483-1485)aCt>aAt									61.0	64.0	63.0					7																	92098212		2203	4300	6503	SO:0001583	missense	0				syncytium formation	integral to membrane|plasma membrane|virion		g.chr7:92098212G>T	AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1484C>A	7.37:g.92098212G>T	ENSP00000419945:p.Thr495Asn					ERVW-1_ENST00000603053.1_Missense_Mutation_p.T495N|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_5'UTR	p.T495N	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN			1	2407	-			495					B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	ENST00000493463.2	37	c.1484C>A	CCDS5626.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315955	0.23908	.	.	ENSG00000242950	ENST00000493463	T	0.16457	2.34	0.0465	0.0465	0.14256	.	155.218000	0.04835	U	0.439484	T	0.13114	0.0318	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.37865	-0.9687	7	0.72032	D	0.01	.	.	.	.	.	.	.	.	N	495	ENSP00000419945:T495N	ENSP00000419945:T495N	T	-	2	0	ERVW-1	91936148	0.059000	0.20769	0.424000	0.26647	0.427000	0.31564	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	ACT		0.488	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254009.2	NM_014590		99	391	1	0	1.49228e-48	1	1.84254e-48	99	391				
TRAPPC2L	51693	broad.mit.edu	37	16	88925046	88925046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88925046G>A	ENST00000301021.3	+	2	118	c.53G>A	c.(52-54)cGc>cAc	p.R18H	GALNS_ENST00000268695.5_5'Flank|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000564365.1_5'UTR|GALNS_ENST00000565364.1_5'Flank|TRAPPC2L_ENST00000567895.1_Intron|GALNS_ENST00000569433.1_5'Flank|GALNS_ENST00000542788.1_5'Flank|GALNS_ENST00000568311.1_5'Flank|TRAPPC2L_ENST00000561840.1_Intron			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	18					ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCTACATTCGCAGCACCCCT	0.557											OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000565504.1																			0				lung(4)|pancreas(1)|skin(1)	6						c.(52-54)cGc>cAc		trafficking protein particle complex 2-like							166.0	147.0	154.0					16																	88925046		2198	4300	6498	SO:0001583	missense	51693				ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm		g.chr16:88925046G>A	BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515			30887	protein-coding gene	gene with protein product		610970				11042152	Standard	NM_016209		Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000301021.3:c.53G>A	16.37:g.88925046G>A	ENSP00000301021:p.Arg18His		OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1263	TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000561840.1_Intron|TRAPPC2L_ENST00000301021.3_Missense_Mutation_p.R18H	p.R18H			Q9UL33	TPC2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	77	+			18					B2R4M9|Q6ZTA7|Q9NZZ4	Missense_Mutation	SNP	ENST00000301021.3	37	c.53G>A	CCDS10971.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214329	0.39102	.	.	ENSG00000167515	ENST00000301021	D	0.83250	-1.7	5.23	5.23	0.72850	Longin-like (1);	0.055567	0.64402	N	0.000001	T	0.77785	0.4182	L	0.50333	1.59	0.80722	D	1	B;B	0.32573	0.084;0.376	B;B	0.30572	0.016;0.117	T	0.75833	-0.3178	10	0.35671	T	0.21	-13.922	13.1498	0.59482	0.0783:0.0:0.9217:0.0	.	18;18	Q9UL33-2;Q9UL33	.;TPC2L_HUMAN	H	18	ENSP00000301021:R18H	ENSP00000301021:R18H	R	+	2	0	TRAPPC2L	87452547	1.000000	0.71417	0.998000	0.56505	0.102000	0.19082	4.661000	0.61518	2.602000	0.87976	0.655000	0.94253	CGC		0.557	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269542.1	NM_016209		269	743	0	0	0	1	0	269	743				
SKA3	221150	broad.mit.edu	37	13	21729846	21729846	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21729846G>A	ENST00000314759.5	-	8	1348	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	408					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTTTGTTGCTGACATCTC	0.363																																						ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1222-1224)agC>agT		spindle and kinetochore associated complex subunit 3							175.0	170.0	172.0					13																	21729846		2203	4300	6503	SO:0001819	synonymous_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729846G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1224C>T	13.37:g.21729846G>A						SKA3_ENST00000400018.3_Intron	p.S408S	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			8	1348	-			408					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Silent	SNP	ENST00000314759.5	37	c.1224C>T	CCDS31946.1																																																																																				0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		66	527	0	0	0	1	0	66	527				
MPDZ	8777	broad.mit.edu	37	9	13247772	13247772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13247772C>T	ENST00000319217.7	-	3	292	c.45G>A	c.(43-45)gaG>gaA	p.E15E	MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000536827.1_Silent_p.E15E|MPDZ_ENST00000447879.1_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000546205.1_Silent_p.E15E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	15	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTGCAAGCGCTCTGCTGCAT	0.488																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(43-45)gaG>gaA		multiple PDZ domain protein							250.0	238.0	242.0					9																	13247772		1918	4134	6052	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13247772C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.45G>A	9.37:g.13247772C>T						MPDZ_ENST00000546205.1_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E|MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000447879.1_Silent_p.E15E|MPDZ_ENST00000536827.1_Silent_p.E15E	p.E15E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	3	292	-			15			L27.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.45G>A																																																																																					0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		19	1176	0	0	0	1	0	19	1176				
MYL9	10398	broad.mit.edu	37	20	35177499	35177499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35177499C>T	ENST00000279022.2	+	4	470	c.366C>T	c.(364-366)caC>caT	p.H122H	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Silent_p.H68H|RP5-977B1.11_ENST00000561134.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	122	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGAGGACCACCTCCGGGAGC	0.592																																						ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(364-366)caC>caT		myosin, light chain 9, regulatory							76.0	69.0	71.0					20																	35177499		2203	4300	6503	SO:0001819	synonymous_variant	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177499C>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.366C>T	20.37:g.35177499C>T						RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H68H|RP5-977B1.7_ENST00000439595.1_RNA	p.H122H	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			4	470	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	122			EF-hand 2.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	c.366C>T	CCDS13276.1																																																																																				0.592	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		40	205	0	0	0	1	0	40	205				
BCL11B	64919	broad.mit.edu	37	14	99640634	99640634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99640634C>T	ENST00000357195.3	-	4	2548	c.2539G>A	c.(2539-2541)Ggg>Agg	p.G847R	BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R|BCL11B_ENST00000345514.2_Missense_Mutation_p.G776R	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	847					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGATCTGCCCGTGCGTCTTC	0.627			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(2326-2328)Ggg>Agg		B-cell CLL/lymphoma 11B (zinc finger protein)							91.0	72.0	78.0					14																	99640634		2203	4300	6503	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640634C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2539G>A	14.37:g.99640634C>T	ENSP00000349723:p.Gly847Arg					BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R|BCL11B_ENST00000357195.3_Missense_Mutation_p.G847R	p.G776R	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2592	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	847					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2326G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325480	0.81580	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07327	3.2;3.2;3.2	4.7	4.7	0.59300	.	0.295993	0.27567	N	0.018789	T	0.16471	0.0396	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.21655	-1.0239	10	0.87932	D	0	-14.1891	17.9731	0.89119	0.0:1.0:0.0:0.0	.	776;847	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	R	847;776;653	ENSP00000349723:G847R;ENSP00000280435:G776R;ENSP00000387419:G653R	ENSP00000280435:G776R	G	-	1	0	BCL11B	98710387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.331000	0.79229	0.462000	0.41574	GGG		0.627	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		10	224	0	0	0	1	0	10	224				
MAGIX	79917	broad.mit.edu	37	X	49022434	49022434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49022434G>T	ENST00000412696.2	+	6	701	c.701G>T	c.(700-702)aGc>aTc	p.S234I	MAGIX_ENST00000376338.3_Missense_Mutation_p.S175I|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I|MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	234																	CCAGATCGCAGCCCAGATCCT	0.607																																						ENST00000376338.3																			0											c.(523-525)aGc>aTc		MAGI family member, X-linked							45.0	51.0	49.0					X																	49022434		2138	4216	6354	SO:0001583	missense	79917							g.chrX:49022434G>T	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.701G>T	X.37:g.49022434G>T	ENSP00000387928:p.Ser234Ile					MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I|MAGIX_ENST00000412696.2_Missense_Mutation_p.S234I|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I	p.S175I			Q9H6Y5	MAGIX_HUMAN			4	603	+			234			PDZ.		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.524G>T	CCDS48106.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	10.73|10.73|10.73	1.433669|1.433669|1.433669	0.25813|0.25813|0.25813	.|.|.	.|.|.	ENSG00000017621|ENSG00000017621|ENSG00000017621	ENST00000415364|ENST00000458388|ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342	.|.|T;T;T;T;T;T	.|.|0.34275	.|.|1.77;2.11;1.76;1.63;1.47;1.37	3.86|3.86|3.86	1.96|1.96|1.96	0.26148|0.26148|0.26148	.|.|.	.|.|0.787278	.|.|0.10759	.|.|N	.|.|0.637462	T|T|T	0.18800|0.18800|0.18800	0.0451|0.0451|0.0451	N|N|N	0.12746|0.12746|0.12746	0.255|0.255|0.255	0.26823|0.26823|0.26823	N|N|N	0.968756|0.968756|0.968756	.|.|B;B;B;B;B	.|.|0.33022	.|.|0.394;0.132;0.208;0.208;0.15	.|.|B;B;B;B;B	.|.|0.30782	.|.|0.12;0.021;0.038;0.047;0.027	T|T|T	0.21280|0.21280|0.21280	-1.0250|-1.0250|-1.0250	5|5|10	.|.|0.21014	.|.|T	.|.|0.42	-0.3008|-0.3008|-0.3008	8.5271|8.5271|8.5271	0.33311|0.33311|0.33311	0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134	.|.|.	.|.|158;234;170;175;101	.|.|F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123	.|.|.;MAGIX_HUMAN;.;.;.	S|H|I	198|158|170;158;234;175;175;101	.|.|ENSP00000365517:S170I;ENSP00000403515:S158I;ENSP00000387928:S234I;ENSP00000365516:S175I;ENSP00000411713:S175I;ENSP00000400147:S101I	.|.|ENSP00000365516:S175I	A|Q|S	+|+|+	1|3|2	0|2|0	MAGIX|MAGIX|MAGIX	48909378|48909378|48909378	0.431000|0.431000|0.431000	0.25546|0.25546|0.25546	0.645000|0.645000|0.645000	0.29479|0.29479|0.29479	0.039000|0.039000|0.039000	0.13416|0.13416|0.13416	1.343000|1.343000|1.343000	0.33930|0.33930|0.33930	0.206000|0.206000|0.206000	0.20587|0.20587|0.20587	0.538000|0.538000|0.538000	0.68166|0.68166|0.68166	GCC|CAG|AGC		0.607	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		60	233	1	0	6.05568e-20	1	6.7715e-20	60	233				
WWTR1	25937	broad.mit.edu	37	3	149374688	149374688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149374688C>T	ENST00000465804.1	-	3	662	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	WWTR1-AS1_ENST00000466836.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1-AS1_ENST00000479752.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T|WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	136	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGCCAGTGGCCGTGAAGGTC	0.647			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(406-408)Gcc>Acc		WW domain containing transcription regulator 1							31.0	28.0	29.0					3																	149374688		2149	4178	6327	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149374688C>T	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.406G>A	3.37:g.149374688C>T	ENSP00000419465:p.Ala136Thr					WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T|WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T	p.A136T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	662	-			136			WW.		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.406G>A	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640804	0.47153	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.09	4.22	0.49857	WW/Rsp5/WWP (6);	0.229124	0.44483	N	0.000444	T	0.74007	0.3660	L	0.35793	1.09	0.29446	N	0.858803	B	0.06786	0.001	B	0.08055	0.003	T	0.69213	-0.5204	10	0.66056	D	0.02	-13.2993	8.6679	0.34132	0.0:0.634:0.2783:0.0877	.	136	Q9GZV5	WWTR1_HUMAN	T	136	ENSP00000419465:A136T;ENSP00000353847:A136T;ENSP00000419234:A136T;ENSP00000418580:A136T	ENSP00000353847:A136T	A	-	1	0	WWTR1	150857378	0.056000	0.20664	1.000000	0.80357	0.944000	0.59088	0.302000	0.19192	1.135000	0.42183	0.462000	0.41574	GCC		0.647	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		17	189	0	0	0	1	0	17	189				
RSPO3	84870	broad.mit.edu	37	6	127476492	127476492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127476492G>T	ENST00000356698.4	+	4	1132	c.543G>T	c.(541-543)caG>caT	p.Q181H	RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	181	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AAATAATACAGCATCCTTCAG	0.463																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(541-543)caG>caT		R-spondin 3							140.0	129.0	132.0					6																	127476492		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127476492G>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.543G>T	6.37:g.127476492G>T	ENSP00000349131:p.Gln181His					RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	p.Q181H	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	4	1132	+			181			TSP type-1.		B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.543G>T	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016045	0.54468	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.81659	-1.52;-1.52	5.7	2.14	0.27477	.	0.051847	0.85682	D	0.000000	T	0.77458	0.4133	L	0.45470	1.425	0.44330	D	0.997217	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.74396	-0.3679	10	0.30854	T	0.27	-26.4136	9.0582	0.36419	0.4722:0.0:0.5278:0.0	.	181;181	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	H	181	ENSP00000349131:Q181H;ENSP00000357300:Q181H	ENSP00000349131:Q181H	Q	+	3	2	RSPO3	127518185	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.619000	0.24388	0.589000	0.29677	0.557000	0.71058	CAG		0.463	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		75	352	1	0	1.26778e-28	1	1.47706e-28	75	352				
SDC4	6385	broad.mit.edu	37	20	43959167	43959167	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959167G>T	ENST00000372733.3	-	4	323	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	95					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TTGGCTCCCAGACCCTGCCCT	0.532			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(283-285)tCt>tAt		syndecan 4							83.0	71.0	75.0					20																	43959167		2203	4300	6503	SO:0001583	missense	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43959167G>T	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.284C>A	20.37:g.43959167G>T	ENSP00000361818:p.Ser95Tyr					SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	p.S95Y	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			4	323	-		Myeloproliferative disorder(115;0.0122)	95					O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	c.284C>A	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094382	0.36952	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.31769	1.48	5.68	4.73	0.59995	.	0.571570	0.15256	N	0.272065	T	0.24431	0.0592	N	0.14661	0.345	0.09310	N	1	P	0.47545	0.897	P	0.48571	0.582	T	0.06127	-1.0844	10	0.62326	D	0.03	-1.355	7.81	0.29226	0.0825:0.0:0.7478:0.1697	.	95	P31431	SDC4_HUMAN	Y	95;23	ENSP00000361818:S95Y	ENSP00000361818:S95Y	S	-	2	0	SDC4	43392581	0.259000	0.24043	0.943000	0.38184	0.300000	0.27592	2.058000	0.41374	1.403000	0.46800	0.561000	0.74099	TCT		0.532	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		38	182	1	0	1.04594e-18	1	1.16214e-18	38	182				
LINGO4	339398	broad.mit.edu	37	1	151773422	151773422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773422G>A	ENST00000368820.3	-	2	2696	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	587						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGTGACCCGGTTACCCCCA	0.542																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1759-1761)Cgg>Tgg		leucine rich repeat and Ig domain containing 4							56.0	60.0	59.0					1																	151773422		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151773422G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1759C>T	1.37:g.151773422G>A	ENSP00000357810:p.Arg587Trp						p.R587W	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2696	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		587						Missense_Mutation	SNP	ENST00000368820.3	37	c.1759C>T	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186448	0.57909	.	.	ENSG00000213171	ENST00000368820	T	0.60797	0.16	5.32	3.37	0.38596	.	0.000000	0.43260	D	0.000596	T	0.56863	0.2014	L	0.46157	1.445	0.40508	D	0.980719	D	0.89917	1.0	D	0.69654	0.965	T	0.62534	-0.6834	10	0.87932	D	0	.	11.2733	0.49153	0.0:0.0:0.5399:0.4601	.	587	Q6UY18	LIGO4_HUMAN	W	587	ENSP00000357810:R587W	ENSP00000357810:R587W	R	-	1	2	LINGO4	150040046	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	1.391000	0.34475	0.744000	0.32741	0.655000	0.94253	CGG		0.542	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		135	377	0	0	0	1	0	135	377				
KCND2	3751	broad.mit.edu	37	7	119915287	119915287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915287G>A	ENST00000331113.4	+	1	1566	c.601G>A	c.(601-603)Gcg>Acg	p.A201T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	201					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTCTGTCATCGCGAATGTGGT	0.562																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(601-603)Gcg>Acg		potassium voltage-gated channel, Shal-related subfamily, member 2							103.0	97.0	99.0					7																	119915287		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915287G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.601G>A	7.37:g.119915287G>A	ENSP00000333496:p.Ala201Thr						p.A201T	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1566	+	all_neural(327;0.117)		201					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.601G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178077	0.38511	.	.	ENSG00000184408	ENST00000331113	D	0.97378	-4.36	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	N	0.21282	0.65	0.58432	D	0.999998	B	0.27732	0.187	B	0.20384	0.029	D	0.90746	0.4653	9	.	.	.	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	201	Q9NZV8	KCND2_HUMAN	T	201	ENSP00000333496:A201T	.	A	+	1	0	KCND2	119702523	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	3.701000	0.54793	2.641000	0.89580	0.563000	0.77884	GCG		0.562	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		59	266	0	0	0	1	0	59	266				
PCNXL4	64430	broad.mit.edu	37	14	60585139	60585139	+	Silent	SNP	A	A	G	rs139085229|rs367609970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60585139A>G	ENST00000406854.1	+	7	2225	c.1671A>G	c.(1669-1671)caA>caG	p.Q557Q	PCNXL4_ENST00000317623.4_Silent_p.Q323Q|PCNXL4_ENST00000535349.1_5'Flank|PCNXL4_ENST00000404681.2_Silent_p.Q557Q|PCNXL4_ENST00000406949.1_Silent_p.Q323Q			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	557						integral component of membrane (GO:0016021)											AGAAAAAACAACGTCGAAAAA	0.383																																						ENST00000406854.1																			0											c.(1669-1671)caA>caG		pecanex-like 4 (Drosophila)							103.0	102.0	102.0					14																	60585139		2168	4288	6456	SO:0001819	synonymous_variant	64430							g.chr14:60585139A>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1671A>G	14.37:g.60585139A>G						PCNXL4_ENST00000404681.2_Silent_p.Q557Q|PCNXL4_ENST00000317623.4_Silent_p.Q323Q|PCNXL4_ENST00000406949.1_Silent_p.Q323Q	p.Q557Q							7	2225	+								A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.1671A>G																																																																																					0.383	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		21	79	0	0	0	1	0	21	79				
ATP1A1	476	broad.mit.edu	37	1	116930090	116930090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116930090G>T	ENST00000295598.5	+	4	616	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E91*|ATP1A1_ENST00000537345.1_Nonsense_Mutation_p.E122*	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	122					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGCTGCTACAGAAGAGGAACC	0.423																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(364-366)Gaa>Taa		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						91.0	87.0	88.0					1																	116930090		2203	4300	6503	SO:0001587	stop_gained	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116930090G>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.364G>T	1.37:g.116930090G>T	ENSP00000295598:p.Glu122*					ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E91*|ATP1A1_ENST00000295598.5_Nonsense_Mutation_p.E122*	p.E122*	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	4	727	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	122					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Nonsense_Mutation	SNP	ENST00000295598.5	37	c.364G>T	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	41	8.618993	0.98888	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.2055	0.93728	0.0:0.0:1.0:0.0	.	.	.	.	X	91;122;122;91;121;91	.	ENSP00000295598:E122X	E	+	1	0	ATP1A1	116731613	1.000000	0.71417	0.964000	0.40570	0.907000	0.53573	9.657000	0.98554	2.773000	0.95371	0.655000	0.94253	GAA		0.423	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		13	393	1	0	9.31168e-06	1	9.55451e-06	13	393				
C7orf25	79020	broad.mit.edu	37	7	42950303	42950303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42950303C>T	ENST00000350427.4	-	2	472	c.197G>A	c.(196-198)aGc>aAc	p.S66N	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N|C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N|C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	66								p.S66N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TAGGTTAGTGCTCTGTAAATG	0.403																																						ENST00000350427.4																			1	Substitution - Missense(1)	p.S66N(1)	endometrium(1)	endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(196-198)aGc>aAc		chromosome 7 open reading frame 25							179.0	171.0	174.0					7																	42950303		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42950303C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.197G>A	7.37:g.42950303C>T	ENSP00000343364:p.Ser66Asn					C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N|C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N	p.S66N			Q9BPX7	CG025_HUMAN			2	472	-			66					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.197G>A	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605821	0.66445	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683;ENST00000421724;ENST00000432637	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.82823	2.61	0.80722	D	1	B;B;D	0.89917	0.085;0.085;1.0	B;B;D	0.79784	0.072;0.072;0.993	T	0.78685	-0.2108	10	0.87932	D	0	-19.246	14.2576	0.66062	0.0:0.9285:0.0:0.0715	.	66;124;66	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	N	66;66;124;66;66;80;66	ENSP00000343364:S66N;ENSP00000413029:S66N;ENSP00000416290:S124N;ENSP00000396597:S66N;ENSP00000413106:S66N;ENSP00000416542:S66N	ENSP00000343364:S66N	S	-	2	0	C7orf25	42916828	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.456000	0.80751	1.348000	0.45733	0.555000	0.69702	AGC		0.403	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		152	603	0	0	0	1	0	152	603				
SNX29	92017	broad.mit.edu	37	16	12450028	12450028	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:12450028G>T	ENST00000566228.1	+	16	1860	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	SNX29_ENST00000306030.3_Missense_Mutation_p.E212D|SNX29_ENST00000323433.4_Missense_Mutation_p.E212D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	597						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGTGGCAGAGATGCATGGCG	0.587																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1789-1791)gaG>gaT		sorting nexin 29							39.0	43.0	42.0					16																	12450028		2077	4216	6293	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12450028G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1791G>T	16.37:g.12450028G>T	ENSP00000456480:p.Glu597Asp					SNX29_ENST00000323433.4_Missense_Mutation_p.E212D|SNX29_ENST00000306030.3_Missense_Mutation_p.E212D	p.E597D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			16	1860	+			212					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.1791G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275544	0.59649	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.36	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.38175	1.15	0.26902	N	0.967094	.	.	.	.	.	.	T	0.11717	-1.0576	7	0.30854	T	0.27	-28.2457	4.8659	0.13607	0.2513:0.0:0.7487:0.0	.	.	.	.	D	212	.	ENSP00000306940:E212D	E	+	3	2	SNX29	12357529	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.968000	0.63728	2.496000	0.84212	0.563000	0.77884	GAG		0.587	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			22	80	1	0	7.87624e-14	1	8.52853e-14	22	80				
GPR124	25960	broad.mit.edu	37	8	37687516	37687516	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37687516G>T	ENST00000412232.2	+	6	715	c.702G>T	c.(700-702)gaG>gaT	p.E234D	GPR124_ENST00000315215.7_Missense_Mutation_p.E234D	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	234	LRRCT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCTCCAGGAGGCCCAGCTCT	0.667																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(700-702)gaG>gaT		G protein-coupled receptor 124							21.0	18.0	19.0					8																	37687516		2199	4293	6492	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37687516G>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.702G>T	8.37:g.37687516G>T	ENSP00000406367:p.Glu234Asp					GPR124_ENST00000412232.2_Missense_Mutation_p.E234D	p.E234D			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	1065	+			234			LRRCT.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.702G>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254261	0.22965	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.59083	0.29;0.37	5.21	0.839	0.18907	Cysteine-rich flanking region, C-terminal (1);	0.058404	0.64402	D	0.000003	T	0.40956	0.1138	L	0.42632	1.34	0.29098	N	0.881634	B;B	0.26512	0.151;0.012	B;B	0.28553	0.091;0.012	T	0.17930	-1.0353	9	.	.	.	-29.2225	3.1779	0.06575	0.2881:0.0944:0.4902:0.1273	.	234;234	Q96PE1-2;Q96PE1	.;GP124_HUMAN	D	227;234;234	ENSP00000323508:E234D;ENSP00000406367:E234D	.	E	+	3	2	GPR124	37806674	0.046000	0.20272	0.969000	0.41365	0.417000	0.31264	0.393000	0.20817	0.205000	0.20568	-0.448000	0.05591	GAG		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			14	50	1	0	9.05144e-12	1	9.67624e-12	14	50				
FREM1	158326	broad.mit.edu	37	9	14842621	14842621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14842621C>A	ENST00000380880.3	-	9	2214	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q477H|FREM1_ENST00000380881.4_Missense_Mutation_p.Q478H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	477					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAACTCCAGCCTGGAGGTCAG	0.542																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1432-1434)caG>caT		FRAS1 related extracellular matrix 1							84.0	88.0	86.0					9																	14842621		2087	4208	6295	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842621C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1431G>T	9.37:g.14842621C>A	ENSP00000370262:p.Gln477His					FREM1_ENST00000380880.3_Missense_Mutation_p.Q477H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q477H	p.Q478H			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2249	-			477					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1434G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476743	0.63849	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26810	1.71;1.71;1.71	5.63	1.72	0.24424	.	0.104852	0.64402	D	0.000003	T	0.24236	0.0587	N	0.21373	0.66	0.44619	D	0.997598	D	0.54397	0.966	P	0.52554	0.702	T	0.01111	-1.1448	10	0.45353	T	0.12	-11.4335	10.6614	0.45704	0.0:0.745:0.0:0.2549	.	477	Q5H8C1	FREM1_HUMAN	H	478;477;477	ENSP00000370263:Q478H;ENSP00000412940:Q477H;ENSP00000370262:Q477H	ENSP00000370257:Q480H	Q	-	3	2	FREM1	14832621	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	1.425000	0.34859	0.125000	0.18397	-0.136000	0.14681	CAG		0.542	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		13	351	1	0	0.000151284	1	0.000153739	13	351				
IARS	3376	broad.mit.edu	37	9	95019019	95019019	+	Missense_Mutation	SNP	G	G	A	rs144846345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95019019G>A	ENST00000375643.3	-	20	2346	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.R694W|IARS_ENST00000447699.2_Missense_Mutation_p.R584W	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	694					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGGATCCACCGGTCTGTAATG	0.448																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2080-2082)Cgg>Tgg		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						138.0	130.0	132.0					9																	95019019		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95019019G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2080C>T	9.37:g.95019019G>A	ENSP00000364794:p.Arg694Trp					IARS_ENST00000447699.2_Missense_Mutation_p.R584W|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.R694W	p.R694W	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			20	2346	-			694					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2080C>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109921	0.77210	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.19532	2.14;2.14;2.14	5.7	2.68	0.31781	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.213106	0.47093	D	0.000245	T	0.51160	0.1658	H	0.94423	3.535	0.80722	D	1	D;D	0.57257	0.979;0.977	D;P	0.64595	0.927;0.832	T	0.58470	-0.7631	10	0.87932	D	0	-8.1626	8.8918	0.35439	0.0739:0.0:0.5729:0.3532	.	694;539	P41252;Q6P0M4	SYIC_HUMAN;.	W	694;694;584;694	ENSP00000364794:R694W;ENSP00000406448:R694W;ENSP00000415020:R584W	ENSP00000364794:R694W	R	-	1	2	IARS	94058840	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	2.387000	0.44389	0.741000	0.32674	-0.314000	0.08810	CGG		0.448	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		48	258	0	0	0	1	0	48	258				
PRAMEF11	440560	broad.mit.edu	37	1	12884845	12884845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884845G>A	ENST00000535591.1	-	4	1461	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	422					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1264-1266)ggC>ggT		PRAME family member 11							57.0	45.0	49.0					1																	12884845		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884845G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1266C>T	1.37:g.12884845G>A							p.G422G	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1461	-			422						Silent	SNP	ENST00000535591.1	37	c.1266C>T	CCDS53268.1																																																																																				0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		166	702	0	0	0	1	0	166	702				
CTSD	1509	broad.mit.edu	37	11	1778668	1778668	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1778668C>T	ENST00000236671.2	-	5	722	c.590G>A	c.(589-591)gGc>gAc	p.G197D	AC068580.6_ENST00000449248.1_RNA|RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A68T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	197					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCCCAGGATGCCATCGAACTT	0.602																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(589-591)gGc>gAc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						217.0	141.0	167.0					11																	1778668		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1778668C>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.590G>A	11.37:g.1778668C>T	ENSP00000236671:p.Gly197Asp					RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A68T	p.G197D	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	5	722	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	197					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.590G>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.0|29.0	4.969388|4.969388	0.92855|0.92855	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000438213;ENST00000367196	.|D;D;D	.|0.88201	.|-2.35;-2.06;-2.29	4.11|4.11	4.11|4.11	0.48088|0.48088	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.108221	.|0.64402	.|D	.|0.000006	D|D	0.97445|0.97445	0.9164|0.9164	H|H	0.99916|0.99916	4.945|4.945	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99636|0.99636	1.0987|1.0987	5|10	.|0.87932	.|D	.|0	.|.	16.5345|16.5345	0.84369|0.84369	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|197	.|P07339	.|CATD_HUMAN	T|D	68|197;182;162	.|ENSP00000236671:G197D;ENSP00000415036:G182D;ENSP00000356164:G162D	.|ENSP00000236671:G197D	A|G	-|-	1|2	0|0	RP11-295K3.1|CTSD	1735244|1735244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.758000|6.758000	0.74929|0.74929	2.129000|2.129000	0.65627|0.65627	0.472000|0.472000	0.43445|0.43445	GCA|GGC		0.602	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		32	143	0	0	0	1	0	32	143				
TP53INP2	58476	broad.mit.edu	37	20	33296666	33296666	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33296666G>A	ENST00000374810.3	+	3	512	c.123G>A	c.(121-123)ccG>ccA	p.P41P	TP53INP2_ENST00000374809.2_Splice_Site_p.P41P|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	41					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						TTGACCTGCCGGGTGAGGCCT	0.667																																						ENST00000374810.3																			0				endometrium(1)|urinary_tract(1)	2						c.e3+1		tumor protein p53 inducible nuclear protein 2							40.0	40.0	40.0					20																	33296666		2202	4300	6502	SO:0001630	splice_region_variant	58476					nucleus		g.chr20:33296666G>A	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.124+1G>A	20.37:g.33296666G>A						TP53INP2_ENST00000374809.2_Splice_Site_p.P41_splice|NCOA6_ENST00000593786.1_Intron	p.P41_splice	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN			3	512	+			41					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Splice_Site	SNP	ENST00000374810.3	37	c.124_splice	CCDS13240.1																																																																																				0.667	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	NM_021202	Silent	39	154	0	0	0	1	0	39	154				
MXD4	10608	broad.mit.edu	37	4	2252274	2252274	+	Silent	SNP	C	C	T	rs374721019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2252274C>T	ENST00000337190.2	-	6	940	c.627G>A	c.(625-627)tcG>tcA	p.S209S	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	209					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACGGGCCTACGAGAGGGCGG	0.716																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(625-627)tcG>tcA		MAX dimerization protein 4		C		0,4292		0,0,2146	8.0	9.0	9.0		627	3.1	1.0	4		9	2,8298		0,2,4148	no	coding-synonymous	MXD4	NM_006454.2		0,2,6294	TT,TC,CC		0.0241,0.0,0.0159		209/210	2252274	2,12590	2146	4150	6296	SO:0001819	synonymous_variant	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2252274C>T		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.627G>A	4.37:g.2252274C>T							p.S209S	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN			6	940	-			209					A2A335|Q5TZX4	Silent	SNP	ENST00000337190.2	37	c.627G>A	CCDS3361.1																																																																																				0.716	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		8	63	0	0	0	1	0	8	63				
MRPS2	51116	broad.mit.edu	37	9	138395608	138395608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395608G>A	ENST00000371785.1	+	5	729	c.520G>A	c.(520-522)Ggc>Agc	p.G174S	MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|C9orf116_ENST00000371791.1_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	174					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTTCAGGGGCGGCATGCTGAC	0.582																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(520-522)Ggc>Agc		mitochondrial ribosomal protein S2							58.0	54.0	56.0					9																	138395608		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395608G>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.520G>A	9.37:g.138395608G>A	ENSP00000360850:p.Gly174Ser					MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|RP11-426A6.5_ENST00000415062.1_RNA	p.G174S			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	729	+			174					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.520G>A	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579148	0.86645	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.78816	-1.21;-1.21;-1.21	4.56	3.66	0.41972	Ribosomal protein S2, flavodoxin-like domain (1);	0.051133	0.85682	D	0.000000	D	0.91703	0.7377	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.93279	0.6658	10	0.87932	D	0	-49.8301	11.7384	0.51778	0.0857:0.0:0.9143:0.0	.	188;174	Q5T8A0;Q9Y399	.;RT02_HUMAN	S	174;174;188	ENSP00000360850:G174S;ENSP00000241600:G174S;ENSP00000400082:G188S	ENSP00000241600:G174S	G	+	1	0	MRPS2	137535429	1.000000	0.71417	0.957000	0.39632	0.740000	0.42216	8.540000	0.90641	1.140000	0.42260	0.585000	0.79938	GGC		0.582	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			48	233	0	0	0	1	0	48	233				
C19orf35	374872	broad.mit.edu	37	19	2276371	2276371	+	Missense_Mutation	SNP	C	C	T	rs557687551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2276371C>T	ENST00000342063.3	-	4	823	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	244										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCGCCCCGGGCAGTGTG	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		14555	0.0		0.0	False		,,,				2504	0.001					ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(730-732)Ggg>Agg		chromosome 19 open reading frame 35							8.0	9.0	9.0					19																	2276371		2045	4060	6105	SO:0001583	missense	374872							g.chr19:2276371C>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.730G>A	19.37:g.2276371C>T	ENSP00000345102:p.Gly244Arg						p.G244R	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	823	-			244						Missense_Mutation	SNP	ENST00000342063.3	37	c.730G>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533116	0.13188	.	.	ENSG00000188305	ENST00000342063	T	0.13901	2.55	2.96	2.96	0.34315	.	.	.	.	.	T	0.06600	0.0169	N	0.14661	0.345	0.09310	N	1	P	0.36599	0.56	B	0.25140	0.058	T	0.28459	-1.0043	9	0.22706	T	0.39	.	10.6612	0.45704	0.0:1.0:0.0:0.0	.	244	Q6ZS72	CS035_HUMAN	R	244	ENSP00000345102:G244R	ENSP00000345102:G244R	G	-	1	0	C19orf35	2227371	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-0.572000	0.05881	1.500000	0.48636	0.561000	0.74099	GGG		0.716	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		18	81	0	0	0	1	0	18	81				
NLRP12	91662	broad.mit.edu	37	19	54308655	54308655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54308655C>T	ENST00000324134.6	-	5	2461	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	765					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCTATGAGAGCTGCAGAGAGG	0.547																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2293-2295)Gct>Act		NLR family, pyrin domain containing 12							109.0	107.0	108.0					19																	54308655		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54308655C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2293G>A	19.37:g.54308655C>T	ENSP00000319377:p.Ala765Thr					NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T	p.A765T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	5	2461	-	Ovarian(34;0.19)		765					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2293G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900593	0.52227	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	3.32	3.32	0.38043	.	.	.	.	.	T	0.64227	0.2579	L	0.48986	1.54	0.19575	N	0.999967	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.939;0.997;0.998;0.999	T	0.50516	-0.8819	9	0.44086	T	0.13	.	10.3841	0.44129	0.0:1.0:0.0:0.0	.	766;48;765;765;765	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	T	765;765;765;765;48;765;766;766;766	ENSP00000319377:A765T;ENSP00000438030:A765T;ENSP00000340473:A765T;ENSP00000346231:A765T;ENSP00000375655:A765T;ENSP00000375653:A766T;ENSP00000375652:A766T	ENSP00000319377:A765T	A	-	1	0	NLRP12	59000467	0.018000	0.18449	0.017000	0.16124	0.245000	0.25701	2.587000	0.46128	1.893000	0.54813	0.289000	0.19496	GCT		0.547	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		134	625	0	0	0	1	0	134	625				
FSHB	2488	broad.mit.edu	37	11	30255204	30255204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30255204G>A	ENST00000417547.1	+	3	286	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	FSHB_ENST00000533718.1_Missense_Mutation_p.G83S|FSHB_ENST00000254122.3_Missense_Mutation_p.G83S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	83					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.G83S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						GAGAGTGCCCGGCTGTGCTCA	0.507																																						ENST00000417547.1																			1	Substitution - Missense(1)	p.G83S(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						c.(247-249)Ggc>Agc		follicle stimulating hormone, beta polypeptide	Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)						111.0	93.0	100.0					11																	30255204		2202	4299	6501	SO:0001583	missense	2488				cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	g.chr11:30255204G>A		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.247G>A	11.37:g.30255204G>A	ENSP00000416606:p.Gly83Ser					FSHB_ENST00000533718.1_Missense_Mutation_p.G83S|FSHB_ENST00000254122.3_Missense_Mutation_p.G83S	p.G83S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN			3	286	+			83					A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	c.247G>A	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424409	0.96111	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.84070	-1.8;-1.8;-1.8	6.17	6.17	0.99709	Cystine knot (1);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92508	0.6014	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	83	P01225	FSHB_HUMAN	S	83	ENSP00000254122:G83S;ENSP00000416606:G83S;ENSP00000433424:G83S	ENSP00000254122:G83S	G	+	1	0	FSHB	30211780	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	6.947000	0.75959	2.941000	0.99782	0.655000	0.94253	GGC		0.507	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		55	224	0	0	0	1	0	55	224				
MATN2	4147	broad.mit.edu	37	8	99039839	99039839	+	Missense_Mutation	SNP	A	A	G	rs564459016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99039839A>G	ENST00000520016.1	+	13	2262	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000521689.1_Missense_Mutation_p.N713S|MATN2_ENST00000254898.5_Missense_Mutation_p.N713S			O00339	MATN2_HUMAN	matrilin 2	713	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGAAACTTCAACTCAGCCAAA	0.478													A|||	1	0.000199681	0.0	0.0	5008	,	,		18754	0.0		0.0	False		,,,				2504	0.001					ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(2137-2139)aAc>aGc		matrilin 2							63.0	63.0	63.0					8																	99039839		1862	4108	5970	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99039839A>G	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2138A>G	8.37:g.99039839A>G	ENSP00000430487:p.Asn713Ser					MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000521689.1_Missense_Mutation_p.N713S|MATN2_ENST00000520016.1_Missense_Mutation_p.N713S|MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|RPL30_ENST00000518164.1_Intron	p.N713S	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		14	2369	+	Breast(36;1.43e-06)		713			VWFA 2.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.2138A>G	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	A	4.471	0.087380	0.08583	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.24	1.14	0.20703	von Willebrand factor, type A (3);	0.432631	0.23966	N	0.042813	T	0.56262	0.1973	N	0.05230	-0.09	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50110	-0.8866	10	0.02654	T	1	-9.1721	6.1465	0.20289	0.279:0.12:0.6009:0.0	.	713;713;713	E9PF03;O00339-2;O00339	.;.;MATN2_HUMAN	S	713;713;672;672;429;713	ENSP00000429977:N713S;ENSP00000254898:N713S;ENSP00000430221:N672S;ENSP00000429010:N429S;ENSP00000430487:N713S	ENSP00000254898:N713S	N	+	2	0	MATN2	99109015	0.934000	0.31675	0.995000	0.50966	0.992000	0.81027	0.216000	0.17585	0.233000	0.21120	0.454000	0.30748	AAC		0.478	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			44	177	0	0	0	1	0	44	177				
ARHGAP11B	89839	broad.mit.edu	37	15	30927350	30927350	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30927350A>C	ENST00000428041.2	+	5	764	c.619A>C	c.(619-621)Agt>Cgt	p.S207R		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	207	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTTCAGACAAGTGAAGGACA	0.378																																						ENST00000428041.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8						c.(619-621)Agt>Cgt		Rho GTPase activating protein 11B							120.0	106.0	110.0					15																	30927350		2202	4300	6502	SO:0001583	missense	89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30927350A>C	BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.619A>C	15.37:g.30927350A>C	ENSP00000392760:p.Ser207Arg						p.S207R	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	5	764	+		all_lung(180;2.71e-09)|Breast(32;0.00116)	207			Rho-GAP.			Missense_Mutation	SNP	ENST00000428041.2	37	c.619A>C	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	6.063	0.379903	0.11466	.	.	ENSG00000187951	ENST00000428041	T	0.18338	2.22	1.64	-1.04	0.10068	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.553031	0.12299	U	0.481287	T	0.08537	0.0212	N	0.17379	0.485	0.21697	N	0.999585	B	0.33612	0.419	B	0.38156	0.266	T	0.37103	-0.9720	10	0.14252	T	0.57	.	3.3373	0.07106	0.5486:0.2285:0.0:0.2229	.	207	Q3KRB8	RHGBB_HUMAN	R	207	ENSP00000392760:S207R	ENSP00000392760:S207R	S	+	1	0	ARHGAP11B	28714642	1.000000	0.71417	0.985000	0.45067	0.187000	0.23431	3.975000	0.56859	-0.290000	0.09025	0.136000	0.15936	AGT		0.378	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841		8	390	0	0	0	1	0	8	390				
ULK4	54986	broad.mit.edu	37	3	41746752	41746752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746752C>T	ENST00000301831.4	-	26	3142	c.2680G>A	c.(2680-2682)Gcc>Acc	p.A894T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	894					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCACCTATGGCTCCATCTATG	0.284																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2680-2682)Gcc>Acc		unc-51 like kinase 4							93.0	87.0	89.0					3																	41746752		1811	4078	5889	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41746752C>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2680G>A	3.37:g.41746752C>T	ENSP00000301831:p.Ala894Thr						p.A894T	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	26	3142	-			894					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2680G>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575882	0.86645	.	.	ENSG00000168038	ENST00000301831	T	0.64618	-0.11	5.01	5.01	0.66863	Armadillo-type fold (1);	0.180486	0.33938	U	0.004411	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.72110	-0.4389	10	0.42905	T	0.14	.	18.6636	0.91479	0.0:1.0:0.0:0.0	.	894	Q96C45	ULK4_HUMAN	T	894	ENSP00000301831:A894T	ENSP00000301831:A894T	A	-	1	0	ULK4	41721756	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.226000	0.65299	2.480000	0.83734	0.591000	0.81541	GCC		0.284	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		28	276	0	0	0	1	0	28	276				
PKD1	5310	broad.mit.edu	37	16	2161784	2161784	+	Silent	SNP	G	G	A	rs530066894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161784G>A	ENST00000262304.4	-	15	3592	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PKD1_ENST00000423118.1_Silent_p.S1128S|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1128	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.|PKD 6. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGCCACGGAGGGCAGGG	0.672													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15930	0.0		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3382-3384)tcC>tcT		polycystic kidney disease 1 (autosomal dominant)							18.0	20.0	19.0					16																	2161784		2185	4285	6470	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161784G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3384C>T	16.37:g.2161784G>A						PKD1_ENST00000423118.1_Silent_p.S1128S	p.S1128S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	3592	-			1128			PKD 5.|PKD 6.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.3384C>T	CCDS32369.1																																																																																				0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			27	88	0	0	0	1	0	27	88				
ZNF814	730051	broad.mit.edu	37	19	58388344	58388344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58388344C>T	ENST00000435989.2	-	2	337	c.103G>A	c.(103-105)Gct>Act	p.A35T	CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597342.1_Missense_Mutation_p.A64T|ZNF814_ENST00000596604.1_Missense_Mutation_p.A35T|ZNF814_ENST00000597832.1_Missense_Mutation_p.A35T|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Missense_Mutation_p.A35T|ZNF814_ENST00000597807.1_Missense_Mutation_p.A35T	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CATCTCTGAGCCTCACTAAGG	0.488																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(103-105)Gct>Act		zinc finger protein 814							205.0	161.0	175.0					19																	58388344		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58388344C>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.103G>A	19.37:g.58388344C>T	ENSP00000410545:p.Ala35Thr					CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597832.1_Missense_Mutation_p.A35T|ZNF814_ENST00000596604.1_Missense_Mutation_p.A35T|ZNF814_ENST00000600634.1_Missense_Mutation_p.A35T|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Missense_Mutation_p.A64T|ZNF814_ENST00000597807.1_Missense_Mutation_p.A35T	p.A35T	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			2	337	-			35			KRAB.		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.103G>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	19.67	3.870316	0.72065	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.02236	4.38	3.35	-2.51	0.06365	Krueppel-associated box (4);	.	.	.	.	T	0.02494	0.0076	L	0.50333	1.59	0.09310	N	1	B	0.24618	0.107	B	0.30316	0.114	T	0.45425	-0.9262	9	0.49607	T	0.09	.	2.8801	0.05645	0.3693:0.3914:0.0:0.2392	.	35	B7Z6K7	ZN814_HUMAN	T	35	ENSP00000410545:A35T	ENSP00000365378:A35T	A	-	1	0	ZNF814	63080156	0.000000	0.05858	0.072000	0.20136	0.828000	0.46876	-0.968000	0.03817	-0.134000	0.11516	0.306000	0.20318	GCT		0.488	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		99	432	0	0	0	1	0	99	432				
CEP250	11190	broad.mit.edu	37	20	34081331	34081331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34081331G>A	ENST00000397527.1	+	23	3685	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.D933N|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	989	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGCACAGAGATGACCTTGC	0.577																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2965-2967)Gat>Aat		centrosomal protein 250kDa							58.0	62.0	60.0					20																	34081331		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34081331G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2965G>A	20.37:g.34081331G>A	ENSP00000380661:p.Asp989Asn					CEP250_ENST00000342580.4_Missense_Mutation_p.D933N	p.D989N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		23	3685	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		989			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2965G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139066	0.21205	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10668	2.91;2.85	3.76	2.77	0.32553	.	1.390910	0.05106	N	0.488063	T	0.12944	0.0314	L	0.57536	1.79	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.36720	-0.9736	10	0.17832	T	0.49	.	8.6375	0.33957	0.1154:0.0:0.8846:0.0	.	989	Q9BV73	CP250_HUMAN	N	989;933	ENSP00000380661:D989N;ENSP00000341541:D933N	ENSP00000341541:D933N	D	+	1	0	CEP250	33544745	0.388000	0.25197	0.058000	0.19502	0.391000	0.30476	2.396000	0.44468	1.942000	0.56320	0.174000	0.16983	GAT		0.577	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		130	445	0	0	0	1	0	130	445				
MYO9A	4649	broad.mit.edu	37	15	72192062	72192062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72192062G>A	ENST00000356056.5	-	24	3908	c.3436C>T	c.(3436-3438)Caa>Taa	p.Q1146*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1146	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATGTTGATTGCAAAAGGATA	0.368																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3436-3438)Caa>Taa		myosin IXA							80.0	77.0	78.0					15																	72192062		2199	4297	6496	SO:0001587	stop_gained	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72192062G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3436C>T	15.37:g.72192062G>A	ENSP00000348349:p.Gln1146*					MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*	p.Q1146*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			24	3908	-			1146			IQ 5.|Neck or regulatory domain.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.3436C>T	CCDS10239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.782160|12.782160	0.99696|0.99696	.|.	.|.	ENSG00000066933|ENSG00000066933	ENST00000261864|ENST00000356056;ENST00000424560;ENST00000444904	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	T|.	0.81814|.	0.4902|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82153|.	-0.0598|.	4|.	0.10636|0.56958	T|D	0.68|0.05	.|.	20.0401|20.0401	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	1126|1146;1146;1127	.|.	ENSP00000261864:A1126V|ENSP00000348349:Q1146X	A|Q	-|-	2|1	0|0	MYO9A|MYO9A	69979116|69979116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	8.263000|8.263000	0.89864|0.89864	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		70	301	0	0	0	1	0	70	301				
DYNC1H1	1778	broad.mit.edu	37	14	102467348	102467348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102467348C>T	ENST00000360184.4	+	19	4296	c.4132C>T	c.(4132-4134)Cga>Tga	p.R1378*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1378	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCCGGTTGCGACAGTATGC	0.473																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(4132-4134)Cga>Tga		dynein, cytoplasmic 1, heavy chain 1							139.0	144.0	142.0					14																	102467348		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102467348C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4132C>T	14.37:g.102467348C>T	ENSP00000348965:p.Arg1378*						p.R1378*	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			19	4296	+			1378			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.4132C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	44	10.575953	0.99430	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	ENSP00000348965:R1378X	R	+	1	2	DYNC1H1	101537101	1.000000	0.71417	0.970000	0.41538	0.379000	0.30106	6.135000	0.71696	2.767000	0.95098	0.563000	0.77884	CGA		0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		149	650	0	0	0	1	0	149	650				
ITPR1	3708	broad.mit.edu	37	3	4747971	4747971	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4747971C>T	ENST00000443694.2	+	34	4733	c.4733C>T	c.(4732-4734)gCc>gTc	p.A1578V	ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1593V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1578V|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1593				AIAIPVDLDSQVNNLFLKSHSIVQK -> HCHSRGPGQPSQ QPLSQVPQHCAE (in Ref. 6; AAD14386). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCCCGCAATGCCGCACGCAGG	0.527																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(4777-4779)gCc>gTc		inositol 1,4,5-trisphosphate receptor, type 1							49.0	52.0	51.0					3																	4747971		2032	4183	6215	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4747971C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4733C>T	3.37:g.4747971C>T	ENSP00000401671:p.Ala1578Val					ITPR1_ENST00000302640.8_Missense_Mutation_p.A1578V|ITPR1_ENST00000443694.2_Missense_Mutation_p.A1578V|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V	p.A1593V			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	37	5128	+			1593					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.4778C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868283	0.51588	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.26	5.26	0.73747	.	0.108661	0.64402	D	0.000005	T	0.57475	0.2056	L	0.40543	1.245	0.80722	D	1	B;B	0.25390	0.005;0.125	B;B	0.32624	0.003;0.149	T	0.51826	-0.8656	10	0.14252	T	0.57	.	19.2432	0.93891	0.0:1.0:0.0:0.0	.	1593;1584	Q14643;G5E9P1	ITPR1_HUMAN;.	V	1593;1578;1593;1584;39;1584;1569;1578	ENSP00000306253:A1578V;ENSP00000346595:A1593V;ENSP00000405934:A1584V;ENSP00000349597:A1584V;ENSP00000397885:A1569V;ENSP00000401671:A1578V	ENSP00000306253:A1578V	A	+	2	0	ITPR1	4722971	1.000000	0.71417	0.864000	0.33941	0.356000	0.29392	5.835000	0.69368	2.609000	0.88269	0.655000	0.94253	GCC		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		32	187	0	0	0	1	0	32	187				
HLCS	3141	broad.mit.edu	37	21	38139572	38139572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38139572G>A	ENST00000399120.1	-	8	2696	c.1466C>T	c.(1465-1467)aCa>aTa	p.T489I	HLCS_ENST00000336648.4_Missense_Mutation_p.T489I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	489	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCCTGCGGTGTCTGAAACAT	0.542																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1465-1467)aCa>aTa		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						105.0	89.0	95.0					21																	38139572		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38139572G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1466C>T	21.37:g.38139572G>A	ENSP00000382071:p.Thr489Ile					HLCS_ENST00000336648.3_Missense_Mutation_p.T489I	p.T489I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			8	2696	-		Myeloproliferative disorder(46;0.0422)	489					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1466C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263207	0.23051	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94280	-3.39;-3.39	6.11	-0.369	0.12534	Biotin/lipoate A/B protein ligase (1);	0.671223	0.16243	N	0.223068	T	0.82070	0.4957	N	0.16130	0.375	0.20403	N	0.999901	B	0.02656	0.0	B	0.01281	0.0	T	0.67229	-0.5723	10	0.16420	T	0.52	.	5.6186	0.17446	0.552:0.0:0.3278:0.1203	.	489	P50747	BPL1_HUMAN	I	489	ENSP00000382071:T489I;ENSP00000338387:T489I	ENSP00000338387:T489I	T	-	2	0	HLCS	37061442	0.976000	0.34144	0.988000	0.46212	0.810000	0.45777	1.139000	0.31504	-0.028000	0.13850	-0.290000	0.09829	ACA		0.542	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			51	347	0	0	0	1	0	51	347				
RTTN	25914	broad.mit.edu	37	18	67855345	67855345	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67855345A>G	ENST00000255674.6	-	10	1590	c.1304T>C	c.(1303-1305)aTg>aCg	p.M435T	RTTN_ENST00000437017.1_Splice_Site_p.M435T|RTTN_ENST00000454359.1_Splice_Site_p.M435T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	435					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATTCTTACCATATCTATACC	0.333																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.e10+1		rotatin							98.0	88.0	91.0					18																	67855345		1816	4077	5893	SO:0001630	splice_region_variant	25914						binding	g.chr18:67855345A>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1305+1T>C	18.37:g.67855345A>G						RTTN_ENST00000454359.1_Splice_Site_p.M435_splice|RTTN_ENST00000437017.1_Splice_Site_p.M435_splice	p.M435_splice	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			10	1590	-		Esophageal squamous(42;0.129)	435					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Splice_Site	SNP	ENST00000255674.6	37	c.1305_splice	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927553	0.34002	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64085	0.67;-0.08;-0.08	5.53	5.53	0.82687	Armadillo-type fold (1);	0.125811	0.56097	D	0.000035	T	0.55305	0.1912	L	0.44542	1.39	0.33720	D	0.616864	B;B	0.31817	0.152;0.341	B;B	0.27076	0.023;0.076	T	0.69109	-0.5232	10	0.72032	D	0.01	.	15.6644	0.77217	1.0:0.0:0.0:0.0	.	435;435	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	T	435	ENSP00000255674:M435T;ENSP00000402352:M435T;ENSP00000399520:M435T	ENSP00000255674:M435T	M	-	2	0	RTTN	66006325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.815000	0.86186	2.101000	0.63845	0.533000	0.62120	ATG		0.333	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	Missense_Mutation	35	135	0	0	0	1	0	35	135				
DNAH3	55567	broad.mit.edu	37	16	20976326	20976326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20976326G>T	ENST00000261383.3	-	53	8879	c.8880C>A	c.(8878-8880)tgC>tgA	p.C2960*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2960	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTTGGGAGCAGATTTCAA	0.517																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8878-8880)tgC>tgA		dynein, axonemal, heavy chain 3							153.0	146.0	148.0					16																	20976326		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976326G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8880C>A	16.37:g.20976326G>T	ENSP00000261383:p.Cys2960*					DNAH3_ENST00000415178.1_3'UTR	p.C2960*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8879	-			2960			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.8880C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	46	12.098613	0.99636	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.93	-0.998	0.10212	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9877	0.47530	0.4789:0.0:0.5211:0.0	.	.	.	.	X	2960	.	ENSP00000261383:C2960X	C	-	3	2	DNAH3	20883827	0.989000	0.36119	0.892000	0.35008	0.016000	0.09150	0.209000	0.17435	-0.384000	0.07845	-0.136000	0.14681	TGC		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		169	692	1	0	7.28047e-80	1	9.30738e-80	169	692				
ST5	6764	broad.mit.edu	37	11	8747727	8747727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8747727C>T	ENST00000534127.1	-	7	1755	c.1370G>A	c.(1369-1371)aGt>aAt	p.S457N	ST5_ENST00000357665.1_Missense_Mutation_p.S457N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000530438.1_Missense_Mutation_p.S37N|ST5_ENST00000526757.1_Missense_Mutation_p.S37N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	457					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGACTGGAGACTGGATGCATC	0.458																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1369-1371)aGt>aAt		suppression of tumorigenicity 5							136.0	125.0	129.0					11																	8747727		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8747727C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1370G>A	11.37:g.8747727C>T	ENSP00000433528:p.Ser457Asn					ST5_ENST00000526757.1_Missense_Mutation_p.S37N|ST5_ENST00000530438.1_Missense_Mutation_p.S37N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000357665.1_Missense_Mutation_p.S457N	p.S457N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	7	1755	-			457					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1370G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640994	0.87859	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000357665;ENST00000530438;ENST00000447053;ENST00000528196;ENST00000527510;ENST00000530580;ENST00000531093;ENST00000533225;ENST00000526126	T;T;T;T;T	0.08634	3.07;3.41;3.41;3.41;3.07	5.92	5.92	0.95590	.	0.169793	0.64402	D	0.000004	T	0.19765	0.0475	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.915	P;B	0.54889	0.763;0.397	T	0.00019	-1.2358	10	0.45353	T	0.12	-10.4636	20.3207	0.98668	0.0:1.0:0.0:0.0	.	37;457	P78524-2;P78524	.;ST5_HUMAN	N	37;457;457;457;37;67;37;37;37;37;37;37	ENSP00000435097:S37N;ENSP00000433528:S457N;ENSP00000319678:S457N;ENSP00000350294:S457N;ENSP00000436802:S37N	ENSP00000319678:S457N	S	-	2	0	ST5	8704303	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.813000	0.96785	0.561000	0.74099	AGT		0.458	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		76	300	0	0	0	1	0	76	300				
C12orf40	283461	broad.mit.edu	37	12	40044117	40044117	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40044117A>C	ENST00000324616.5	+	7	801	c.647A>C	c.(646-648)aAa>aCa	p.K216T	C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	216										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CCATCACATAAAACTACACGA	0.318																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(646-648)aAa>aCa		chromosome 12 open reading frame 40							75.0	69.0	71.0					12																	40044117		1811	4070	5881	SO:0001583	missense	283461							g.chr12:40044117A>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.647A>C	12.37:g.40044117A>C	ENSP00000317671:p.Lys216Thr					C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T	p.K216T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			7	801	+			216					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.647A>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	7.345	0.621738	0.14193	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45276	0.9;0.91	3.53	2.34	0.29019	.	1.135250	0.06734	N	0.777242	T	0.29061	0.0722	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.27331	-1.0077	10	0.62326	D	0.03	.	7.0939	0.25299	0.7708:0.2292:0.0:0.0	.	216	Q86WS4	CL040_HUMAN	T	216;139;216	ENSP00000383897:K216T;ENSP00000317671:K216T	ENSP00000317671:K216T	K	+	2	0	C12orf40	38330384	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.391000	0.20784	0.688000	0.31529	0.528000	0.53228	AAA		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		17	72	0	0	0	1	0	17	72				
TMCO1	54499	broad.mit.edu	37	1	165712439	165712439	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165712439A>C	ENST00000392129.6	-	6	583	c.433T>G	c.(433-435)Ttc>Gtc	p.F145V	TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V|TMCO1_ENST00000367881.5_Missense_Mutation_p.F196V|TMCO1_ENST00000580248.1_Missense_Mutation_p.F61V	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	145						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATATACAGGAAAATGAAGGAA	0.398																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(586-588)Ttc>Gtc		transmembrane and coiled-coil domains 1							94.0	92.0	93.0					1																	165712439		2203	4300	6503	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712439A>C	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.433T>G	1.37:g.165712439A>C	ENSP00000375975:p.Phe145Val					TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V|TMCO1_ENST00000580248.1_Missense_Mutation_p.F61V|TMCO1_ENST00000392129.6_Missense_Mutation_p.F145V	p.F196V			Q9UM00	TMCO1_HUMAN			6	861	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		145					B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.586T>G		.	.	.	.	.	.	.	.	.	.	A	27.0	4.792056	0.90453	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.17	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.93594	3.435	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82989	-0.0183	8	0.51188	T	0.08	.	10.3335	0.43837	0.9235:0.0:0.0765:0.0	.	133;145	B7Z591;Q9UM00	.;TMCO1_HUMAN	V	145;126	.	ENSP00000356856:F145V	F	-	1	0	TMCO1	163979063	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.827000	0.92041	1.160000	0.42584	0.533000	0.62120	TTC		0.398	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		62	287	0	0	0	1	0	62	287				
NEK8	284086	broad.mit.edu	37	17	27067558	27067558	+	Nonsense_Mutation	SNP	C	C	T	rs565763400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27067558C>T	ENST00000268766.6	+	11	1529	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	AC010761.6_ENST00000584779.1_RNA|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	499					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGAAGCTCAGCGAGTTGTATG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.0				NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1495-1497)Cga>Tga		NIMA-related kinase 8							119.0	109.0	112.0					17																	27067558		2203	4300	6503	SO:0001587	stop_gained	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27067558C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1495C>T	17.37:g.27067558C>T	ENSP00000268766:p.Arg499*					AC010761.6_ENST00000584779.1_RNA	p.R499*	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			11	1529	+	Lung NSC(42;0.0158)		499					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Nonsense_Mutation	SNP	ENST00000268766.6	37	c.1495C>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219461	0.95139	.	.	ENSG00000160602	ENST00000268766	.	.	.	5.56	-1.1	0.09872	.	0.051240	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.429	0.44395	0.6412:0.2843:0.0:0.0745	.	.	.	.	X	499	.	ENSP00000268766:R499X	R	+	1	2	NEK8	24091685	0.961000	0.32948	0.929000	0.37066	0.977000	0.68977	0.124000	0.15728	-0.021000	0.14009	0.555000	0.69702	CGA		0.572	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			42	543	0	0	0	1	0	42	543				
EFCAB5	374786	broad.mit.edu	37	17	28435016	28435016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28435016C>T	ENST00000394835.3	+	23	4678	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1496							calcium ion binding (GO:0005509)	p.P1496A(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAAAAATGCCAGGGGAAGG	0.353																																						ENST00000394835.3																			1	Substitution - Missense(1)	p.P1496A(1)	lung(1)	breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(4486-4488)Cca>Tca		EF-hand calcium binding domain 5							152.0	141.0	145.0					17																	28435016		1862	4103	5965	SO:0001583	missense	374786						calcium ion binding	g.chr17:28435016C>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4486C>T	17.37:g.28435016C>T	ENSP00000378312:p.Pro1496Ser					EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S|RP11-1148O4.2_ENST00000582938.1_RNA	p.P1496S	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			23	4678	+			1496					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4486C>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565278	0.65651	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.17213	3.03;3.02;2.29;3.03	4.69	2.08	0.27032	.	0.142981	0.31648	N	0.007295	T	0.14399	0.0348	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24368	0.102;0.046;0.1	B;B;B	0.30105	0.066;0.038;0.111	T	0.15636	-1.0430	10	0.38643	T	0.18	-8.3039	4.662	0.12646	0.0:0.6342:0.2002:0.1656	.	968;1372;1496	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	S	1496;1372;968;1178	ENSP00000378312:P1496S;ENSP00000322003:P1372S;ENSP00000378309:P968S;ENSP00000417009:P1178S	ENSP00000322003:P1372S	P	+	1	0	EFCAB5	25459142	0.976000	0.34144	0.273000	0.24645	0.719000	0.41307	0.606000	0.24194	0.859000	0.35456	0.655000	0.94253	CCA		0.353	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		80	392	0	0	0	1	0	80	392				
DIRAS1	148252	broad.mit.edu	37	19	2717568	2717568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717568G>A	ENST00000323469.4	-	2	420	c.237C>T	c.(235-237)ggC>ggT	p.G79G	DIRAS1_ENST00000585334.1_Silent_p.G79G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	79					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G79G(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGGCGTGGCCCTTGGAGA	0.622																																						ENST00000323469.4																			1	Substitution - coding silent(1)	p.G79G(1)	ovary(1)	kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(235-237)ggC>ggT		DIRAS family, GTP-binding RAS-like 1							70.0	58.0	62.0					19																	2717568		2201	4299	6500	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717568G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.237C>T	19.37:g.2717568G>A						DIRAS1_ENST00000585334.1_Silent_p.G79G	p.G79G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	420	-			79						Silent	SNP	ENST00000323469.4	37	c.237C>T	CCDS12092.1																																																																																				0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			50	189	0	0	0	1	0	50	189				
HTRA3	94031	broad.mit.edu	37	4	8288479	8288479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8288479C>T	ENST00000307358.2	+	3	881	c.677C>T	c.(676-678)tCg>tTg	p.S226L	HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	226	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GACAAGAAGTCGGACATTGCC	0.622																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(676-678)tCg>tTg		HtrA serine peptidase 3							73.0	61.0	65.0					4																	8288479		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8288479C>T	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.677C>T	4.37:g.8288479C>T	ENSP00000303766:p.Ser226Leu					HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	p.S226L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			3	881	+			226			Serine protease.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.677C>T	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612385	0.28712	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.86030	-2.06;-2.06	4.08	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.64402	D	0.000002	T	0.77758	0.4178	L	0.39692	1.235	0.80722	D	1	B;B	0.19583	0.002;0.037	B;B	0.17098	0.006;0.017	T	0.69435	-0.5146	10	0.27785	T	0.31	-14.0686	11.5947	0.50966	0.0:0.9107:0.0:0.0893	.	226;226	P83110;P83110-2	HTRA3_HUMAN;.	L	226	ENSP00000303766:S226L;ENSP00000371952:S226L	ENSP00000303766:S226L	S	+	2	0	HTRA3	8339379	0.999000	0.42202	0.764000	0.31436	0.731000	0.41821	4.413000	0.59795	0.707000	0.31934	0.462000	0.41574	TCG		0.622	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		12	268	0	0	0	1	0	12	268				
USH2A	7399	broad.mit.edu	37	1	216256823	216256823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216256823T>G	ENST00000307340.3	-	26	5659	c.5273A>C	c.(5272-5274)aAc>aCc	p.N1758T	USH2A_ENST00000366943.2_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N1758T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - Missense(1)	p.N1758T(1)	lung(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5272-5274)aAc>aCc		Usher syndrome 2A (autosomal recessive, mild)							95.0	99.0	97.0					1																	216256823		2202	4299	6501	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216256823T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5273A>C	1.37:g.216256823T>G	ENSP00000305941:p.Asn1758Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	p.N1758T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5659	-			1758			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5273A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331504	0.60853	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79940	-1.32;-1.32	4.38	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000186	D	0.86732	0.6003	M	0.73598	2.24	0.35285	D	0.781655	D	0.76494	0.999	D	0.69307	0.963	D	0.88206	0.2887	10	0.44086	T	0.13	.	9.8214	0.40885	0.0:0.0824:0.0:0.9176	.	1758	O75445	USH2A_HUMAN	T	1758	ENSP00000305941:N1758T;ENSP00000355910:N1758T	ENSP00000305941:N1758T	N	-	2	0	USH2A	214323446	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	2.642000	0.46596	0.656000	0.30886	0.533000	0.62120	AAC		0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		123	344	0	0	0	1	0	123	344				
PKNOX2	63876	broad.mit.edu	37	11	125255507	125255507	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125255507C>A	ENST00000298282.9	+	6	559	c.288C>A	c.(286-288)ggC>ggA	p.G96G	PKNOX2_ENST00000542175.1_Silent_p.G32G|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	96					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCACCCAGGGCTCTGAGTGCA	0.552																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(286-288)ggC>ggA		PBX/knotted 1 homeobox 2							122.0	124.0	124.0					11																	125255507		2080	4228	6308	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125255507C>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.288C>A	11.37:g.125255507C>A						PKNOX2_ENST00000542175.1_Silent_p.G32G|PKNOX2_ENST00000530517.1_3'UTR	p.G96G	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	6	559	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	96					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.288C>A	CCDS41730.1																																																																																				0.552	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			19	456	1	0	0.00152264	1	0.00153772	19	456				
MAP4K1	11184	broad.mit.edu	37	19	39087996	39087996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087996C>T	ENST00000591517.1	-	24	1835	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	MAP4K1_ENST00000423454.2_3'UTR|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	603	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTGGTGTCCTGGATCTTG	0.592																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1807-1809)Gac>Aac		mitogen-activated protein kinase kinase kinase kinase 1							149.0	162.0	157.0					19																	39087996		2094	4224	6318	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39087996C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1807G>A	19.37:g.39087996C>T	ENSP00000465039:p.Asp603Asn					MAP4K1_ENST00000423454.2_3'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	p.D603N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	1835	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		603			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1807G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600510	0.96614	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.05447	3.44	5.25	4.21	0.49690	Citron-like (3);	0.235175	0.41097	D	0.000948	T	0.20455	0.0492	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.975;0.986	T	0.00420	-1.1750	10	0.54805	T	0.06	.	12.5387	0.56156	0.1672:0.8328:0.0:0.0	.	603;603	Q92918-2;Q92918	.;M4K1_HUMAN	N	603	ENSP00000380066:D603N	ENSP00000221409:D603N	D	-	1	0	MAP4K1	43779836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.358000	0.66064	1.439000	0.47511	0.555000	0.69702	GAC		0.592	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		256	1217	0	0	0	1	0	256	1217				
OCRL	4952	broad.mit.edu	37	X	128691392	128691392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128691392C>T	ENST00000371113.4	+	5	494	c.329C>T	c.(328-330)gCt>gTt	p.A110V	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	110	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCCTCTCAGCTGTCCTTGCT	0.463																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(328-330)gCt>gTt		oculocerebrorenal syndrome of Lowe							87.0	78.0	81.0					X																	128691392		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128691392C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.329C>T	X.37:g.128691392C>T	ENSP00000360154:p.Ala110Val					OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	p.A110V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			5	494	+			110					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.329C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949666	0.53186	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94138	-3.36;-3.36	5.32	4.14	0.48551	.	0.616585	0.17225	N	0.182195	D	0.85089	0.5617	N	0.08118	0	0.25635	N	0.986265	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.76310	-0.3006	10	0.87932	D	0	.	10.5884	0.45296	0.8376:0.1624:0.0:0.0	.	110;110	Q01968-2;Q01968	.;OCRL_HUMAN	V	110	ENSP00000360154:A110V;ENSP00000349635:A110V	ENSP00000349635:A110V	A	+	2	0	OCRL	128519073	0.998000	0.40836	0.998000	0.56505	0.976000	0.68499	4.413000	0.59795	0.667000	0.31107	-0.328000	0.08392	GCT		0.463	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		35	124	0	0	0	1	0	35	124				
C7orf31	136895	broad.mit.edu	37	7	25175698	25175698	+	Missense_Mutation	SNP	G	G	A	rs143176585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25175698G>A	ENST00000409280.1	-	10	1974	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	556										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTATGGAAACGCTTTTGTGCA	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		18400	0.0		0.002	False		,,,				2504	0.0					ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1666-1668)Cgt>Tgt		chromosome 7 open reading frame 31		G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	119.0	118.0	119.0		1666	3.5	0.7	7	dbSNP_134	119	31,8569	20.4+/-63.3	0,31,4269	yes	missense	C7orf31	NM_138811.3	180	0,37,6466	AA,AG,GG		0.3605,0.1362,0.2845	probably-damaging	556/591	25175698	37,12969	2203	4300	6503	SO:0001583	missense	136895							g.chr7:25175698G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1666C>T	7.37:g.25175698G>A	ENSP00000386604:p.Arg556Cys					C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C	p.R556C			Q8N865	CG031_HUMAN			10	1974	-			556					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1666C>T	CCDS5394.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	12.45	1.941501	0.34283	0.001362	0.003605	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.07800	3.16;3.16	5.41	3.55	0.40652	.	0.200309	0.42682	N	0.000680	T	0.07818	0.0196	M	0.66939	2.045	0.22629	N	0.998914	P	0.34684	0.463	B	0.19666	0.026	T	0.33828	-0.9853	10	0.54805	T	0.06	-4.2669	4.6912	0.12781	0.0734:0.1319:0.5231:0.2716	.	556	Q8N865	CG031_HUMAN	C	556	ENSP00000386604:R556C;ENSP00000283905:R556C	ENSP00000283905:R556C	R	-	1	0	C7orf31	25142223	0.037000	0.19845	0.726000	0.30738	0.489000	0.33432	0.635000	0.24629	0.724000	0.32296	-0.258000	0.10820	CGT		0.413	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		111	470	0	0	0	1	0	111	470				
MYOM2	9172	broad.mit.edu	37	8	2092671	2092671	+	Silent	SNP	C	C	T	rs201809676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2092671C>T	ENST00000262113.4	+	37	4305	c.4164C>T	c.(4162-4164)agC>agT	p.S1388S	MYOM2_ENST00000523438.1_Silent_p.S813S|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1388	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCAGCTCAGCGAGCACTTCT	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20247	0.0		0.0	False		,,,				2504	0.0					ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(4162-4164)agC>agT		myomesin 2							115.0	100.0	105.0					8																	2092671		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092671C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4164C>T	8.37:g.2092671C>T						MYOM2_ENST00000523438.1_Silent_p.S813S|MYOM2_ENST00000520298.1_3'UTR	p.S1388S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4305	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1388			Ig-like C2-type 5.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.4164C>T	CCDS5957.1																																																																																				0.537	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		18	463	0	0	0	1	0	18	463				
HSPA2	3306	broad.mit.edu	37	14	65007778	65007778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65007778G>A	ENST00000394709.1	+	2	287	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	HSPA2_ENST00000247207.6_Missense_Mutation_p.A71T|HSPA2_ENST00000554883.1_Intron|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	71					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCTTCGACGCCAAGAGGCT	0.612																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(211-213)Gcc>Acc		heat shock 70kDa protein 2							99.0	79.0	86.0					14																	65007778		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65007778G>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.211G>A	14.37:g.65007778G>A	ENSP00000378199:p.Ala71Thr					HSPA2_ENST00000394709.1_Missense_Mutation_p.A71T|HSPA2_ENST00000554883.1_Intron	p.A71T	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	593	+			71					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.211G>A	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995842	0.74703	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01015	5.44;5.44	5.38	5.38	0.77491	.	0.000000	0.53938	U	0.000049	T	0.03739	0.0106	M	0.75085	2.285	0.58432	D	0.999999	P	0.43607	0.812	P	0.49192	0.602	T	0.33701	-0.9858	10	0.87932	D	0	0.4442	19.1451	0.93461	0.0:0.0:1.0:0.0	.	71	P54652	HSP72_HUMAN	T	71	ENSP00000378199:A71T;ENSP00000247207:A71T	ENSP00000247207:A71T	A	+	1	0	HSPA2	64077531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.828000	0.99408	2.517000	0.84864	0.563000	0.77884	GCC		0.612	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			50	217	0	0	0	1	0	50	217				
PCDHA2	56146	broad.mit.edu	37	5	140175911	140175911	+	Silent	SNP	G	G	A	rs540494529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175911G>A	ENST00000526136.1	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.A454A|PCDHA2_ENST00000378132.1_Silent_p.A454A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCGGCGTTCGCACAGC	0.647																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1360-1362)gcG>gcA									78.0	79.0	78.0					5																	140175911		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140175911G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1362G>A	5.37:g.140175911G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.A454A|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.A454A	p.A454A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1362	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1362G>A	CCDS54914.1																																																																																				0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		126	555	0	0	0	1	0	126	555				
TAB2	23118	broad.mit.edu	37	6	149699842	149699842	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149699842C>A	ENST00000367456.1	+	4	1368	c.791C>A	c.(790-792)cCt>cAt	p.P264H	TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000538427.1_Missense_Mutation_p.P264H|TAB2_ENST00000536230.1_Missense_Mutation_p.P232H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	264					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCATCTAATCCTCTGTCACAT	0.488																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(790-792)cCt>cAt		TGF-beta activated kinase 1/MAP3K7 binding protein 2							179.0	163.0	168.0					6																	149699842		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699842C>A	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.791C>A	6.37:g.149699842C>A	ENSP00000356426:p.Pro264His					TAB2_ENST00000536230.1_Missense_Mutation_p.P232H|TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000538427.1_Missense_Mutation_p.P264H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H	p.P264H			Q9NYJ8	TAB2_HUMAN			4	1368	+			264					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.791C>A	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037412	0.08148	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.78481	-1.18;-1.09;-1.14;-1.14;-1.14	6.16	6.16	0.99307	.	0.301553	0.37393	N	0.002105	T	0.55862	0.1947	L	0.29908	0.895	0.45076	D	0.998098	P;P	0.45283	0.855;0.855	B;B	0.37091	0.241;0.241	T	0.59573	-0.7429	10	0.13470	T	0.59	-7.5015	20.8598	0.99761	0.0:1.0:0.0:0.0	.	232;264	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	232;264;264;264;264	ENSP00000443206:P232H;ENSP00000376106:P264H;ENSP00000445752:P264H;ENSP00000356426:P264H;ENSP00000286332:P264H	ENSP00000286332:P264H	P	+	2	0	TAB2	149741535	0.999000	0.42202	0.416000	0.26546	0.002000	0.02628	5.594000	0.67557	2.937000	0.99478	0.650000	0.86243	CCT		0.488	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			134	643	1	0	2.98534e-63	1	3.76712e-63	134	643				
CCDC85A	114800	broad.mit.edu	37	2	56420013	56420013	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420013G>T	ENST00000407595.2	+	2	1180	c.678G>T	c.(676-678)aaG>aaT	p.K226N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	226	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACCACAAGCACCACGCGA	0.687																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(676-678)aaG>aaT		coiled-coil domain containing 85A							25.0	35.0	32.0					2																	56420013		2177	4274	6451	SO:0001583	missense	114800							g.chr2:56420013G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.678G>T	2.37:g.56420013G>T	ENSP00000384040:p.Lys226Asn					RP11-482H16.1_ENST00000607540.1_RNA	p.K226N	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1180	+			226			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.678G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663758	0.47572	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	1.86	0.25419	.	0.250691	0.45867	D	0.000333	T	0.34571	0.0902	L	0.29908	0.895	0.80722	D	1	P	0.36027	0.533	B	0.34590	0.186	T	0.04976	-1.0914	9	0.22706	T	0.39	0.196	8.7085	0.34369	0.4288:0.0:0.5712:0.0	.	226	Q96PX6	CC85A_HUMAN	N	226	.	ENSP00000384040:K226N	K	+	3	2	CCDC85A	56273517	0.997000	0.39634	0.993000	0.49108	0.898000	0.52572	0.477000	0.22196	0.554000	0.29061	0.655000	0.94253	AAG		0.687	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			70	248	1	0	1.26778e-28	1	1.47706e-28	70	248				
AKAP9	10142	broad.mit.edu	37	7	91632019	91632019	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91632019A>T	ENST00000359028.2	+	9	3049	c.2824A>T	c.(2824-2826)Atg>Ttg	p.M942L	AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L|AKAP9_ENST00000356239.3_Missense_Mutation_p.M930L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	942	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACATTGGAAATGGGTGAGGT	0.363			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2824-2826)Atg>Ttg		A kinase (PRKA) anchor protein 9							46.0	47.0	46.0					7																	91632019		2202	4299	6501	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91632019A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2824A>T	7.37:g.91632019A>T	ENSP00000351922:p.Met942Leu					AKAP9_ENST00000356239.3_Missense_Mutation_p.M930L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L	p.M942L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	3049	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		942			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.2824A>T		.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02737	4.18;4.18;4.18	5.28	-3.65	0.04502	.	1.558810	0.04096	N	0.312104	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47911	-0.9080	10	0.27082	T	0.32	.	6.3967	0.21616	0.2917:0.3727:0.3355:0.0	.	942;930;930;942	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	L	930;942;942;942;942	ENSP00000348573:M930L;ENSP00000351922:M942L;ENSP00000350813:M942L	ENSP00000348573:M930L	M	+	1	0	AKAP9	91469955	0.003000	0.15002	0.016000	0.15963	0.096000	0.18686	0.153000	0.16323	-0.530000	0.06349	-0.264000	0.10439	ATG		0.363	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		52	232	0	0	0	1	0	52	232				
NDUFA10	4705	broad.mit.edu	37	2	240929543	240929543	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240929543T>A	ENST00000252711.2	-	9	1047	c.947A>T	c.(946-948)gAa>gTa	p.E316V	NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E346V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	316					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATGGTGACTTCCGGGAGAAA	0.443																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(946-948)gAa>gTa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						124.0	114.0	117.0					2																	240929543		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240929543T>A	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.947A>T	2.37:g.240929543T>A	ENSP00000252711:p.Glu316Val					NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E346V	p.E316V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	9	1047	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	316					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.947A>T	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247391	0.39697	.	.	ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000448880;ENST00000307300	D;D;D;D	0.87729	-1.91;-2.06;-2.1;-2.29	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.93527	0.6866	10	0.87932	D	0	-27.0026	11.0376	0.47811	0.0:0.0:0.0:1.0	.	346;316	Q8WXC9;O95299	.;NDUAA_HUMAN	V	81;316;316;316;220;79;346	ENSP00000252711:E316V;ENSP00000385697:E316V;ENSP00000411527:E220V;ENSP00000302321:E346V	ENSP00000252711:E316V	E	-	2	0	NDUFA10	240578216	0.478000	0.25917	0.721000	0.30653	0.018000	0.09664	3.088000	0.50175	1.937000	0.56155	0.460000	0.39030	GAA		0.443	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		118	323	0	0	0	1	0	118	323				
IFNK	56832	broad.mit.edu	37	9	27524894	27524894	+	Missense_Mutation	SNP	G	G	A	rs575580082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27524894G>A	ENST00000276943.2	+	1	583	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	187					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAGATTGTCCGAGTGGAAATC	0.398																																						ENST00000276943.2																			0				large_intestine(1)	1						c.(559-561)cGa>cAa		interferon, kappa							41.0	43.0	42.0					9																	27524894		2203	4300	6503	SO:0001583	missense	56832				cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:27524894G>A	AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"""Interferons"""	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.560G>A	9.37:g.27524894G>A	ENSP00000276943:p.Arg187Gln					MOB3B_ENST00000262244.5_Intron	p.R187Q	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)	1	583	+		all_neural(11;7.9e-11)	187					Q5T166	Missense_Mutation	SNP	ENST00000276943.2	37	c.560G>A	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706313	0.30232	.	.	ENSG00000147896	ENST00000276943	T	0.05447	3.44	6.16	-12.0	0.00017	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.872417	0.09714	N	0.765332	T	0.04227	0.0117	M	0.74546	2.27	0.09310	N	1	P	0.46277	0.875	B	0.33960	0.173	T	0.00204	-1.1923	10	0.72032	D	0.01	-13.632	1.707	0.02884	0.258:0.1477:0.1175:0.4768	.	187	Q9P0W0	IFNK_HUMAN	Q	187	ENSP00000276943:R187Q	ENSP00000276943:R187Q	R	+	2	0	IFNK	27514894	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-1.383000	0.02544	-2.553000	0.00478	-0.355000	0.07637	CGA		0.398	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	NM_020124		27	170	0	0	0	1	0	27	170				
CCR4	1233	broad.mit.edu	37	3	32995192	32995192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995192C>T	ENST00000330953.5	+	2	446	c.278C>T	c.(277-279)cCt>cTt	p.P93L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	93					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTTTCCCTCCCTTTTTGGGGC	0.498																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(277-279)cCt>cTt		chemokine (C-C motif) receptor 4							231.0	220.0	224.0					3																	32995192		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995192C>T	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.278C>T	3.37:g.32995192C>T	ENSP00000332659:p.Pro93Leu						p.P93L	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	446	+			93					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.278C>T	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934249	0.92458	.	.	ENSG00000183813	ENST00000330953	T	0.72051	-0.62	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000027	D	0.89382	0.6699	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91205	0.4994	10	0.72032	D	0.01	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	93	P51679	CCR4_HUMAN	L	93	ENSP00000332659:P93L	ENSP00000332659:P93L	P	+	2	0	CCR4	32970196	1.000000	0.71417	0.954000	0.39281	0.965000	0.64279	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CCT		0.498	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			149	629	0	0	0	1	0	149	629				
HOXB1	3211	broad.mit.edu	37	17	46607055	46607055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607055G>A	ENST00000239174.6	-	2	852	c.760C>T	c.(760-762)Cga>Tga	p.R254*	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCATTCGTCGGTTCTGGAAC	0.602																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(760-762)Cga>Tga		homeobox B1							158.0	163.0	161.0					17																	46607055		2203	4300	6503	SO:0001587	stop_gained	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607055G>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.760C>T	17.37:g.46607055G>A	ENSP00000355140:p.Arg254*					HOXB1_ENST00000577092.1_3'UTR	p.R254*	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			2	852	-			254					Q4VB03	Nonsense_Mutation	SNP	ENST00000239174.6	37	c.760C>T	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654219	0.96724	.	.	ENSG00000120094	ENST00000239174	.	.	.	5.3	5.3	0.74995	.	0.000000	0.45867	D	0.000335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7556	0.69560	0.0:0.0:0.8551:0.1449	.	.	.	.	X	254	.	ENSP00000355140:R254X	R	-	1	2	HOXB1	43962054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.498000	0.35660	2.769000	0.95229	0.655000	0.94253	CGA		0.602	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			210	929	0	0	0	1	0	210	929				
C16orf62	57020	broad.mit.edu	37	16	19702706	19702706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19702706C>T	ENST00000251143.5	+	29	2571	c.2559C>T	c.(2557-2559)gaC>gaT	p.D853D	C16orf62_ENST00000542263.1_Silent_p.D849D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000417362.2_Silent_p.D760D|C16orf62_ENST00000438132.3_Silent_p.D942D|C16orf62_ENST00000448695.1_Silent_p.D703D			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	853						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACGGGGGAGACTCCAAGTTCC	0.577																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2824-2826)gaC>gaT		chromosome 16 open reading frame 62							124.0	99.0	108.0					16																	19702706		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19702706C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2559C>T	16.37:g.19702706C>T						C16orf62_ENST00000448695.1_Silent_p.D703D|C16orf62_ENST00000251143.5_Silent_p.D853D|C16orf62_ENST00000542263.1_Silent_p.D849D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000417362.2_Silent_p.D760D	p.D942D	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			29	2874	+			853					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.2826C>T																																																																																					0.577	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		50	149	0	0	0	1	0	50	149				
HNRNPM	4670	broad.mit.edu	37	19	8550903	8550903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550903C>T	ENST00000325495.4	+	14	1632	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R492C	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGCATGGAGCGCATGGTGCC	0.687																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1474-1476)Cgc>Tgc		heterogeneous nuclear ribonucleoprotein M							48.0	51.0	50.0					19																	8550903		2203	4297	6500	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550903C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1591C>T	19.37:g.8550903C>T	ENSP00000325376:p.Arg531Cys					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531C	p.R492C	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1706	+			531			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1474C>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846507	0.51164	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.27720	1.78;1.65	5.62	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.38953	1.18	0.80722	D	1	B;B;B;B	0.20671	0.014;0.006;0.004;0.047	B;B;B;B	0.09377	0.002;0.001;0.001;0.004	T	0.05209	-1.0899	10	0.87932	D	0	.	14.4855	0.67614	0.1483:0.8517:0.0:0.0	.	371;531;492;416	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	C	531;492;416;88	ENSP00000325376:R531C;ENSP00000325732:R492C	ENSP00000325376:R531C	R	+	1	0	HNRNPM	8456903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.450000	0.66626	1.333000	0.45449	0.591000	0.81541	CGC		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			100	473	0	0	0	1	0	100	473				
COLEC11	78989	broad.mit.edu	37	2	3691463	3691463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3691463G>A	ENST00000349077.4	+	7	674	c.571G>A	c.(571-573)Gca>Aca	p.A191T	COLEC11_ENST00000382062.2_Missense_Mutation_p.A167T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A141T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A141T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A188T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A117T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Missense_Mutation_p.A165T|COLEC11_ENST00000418971.2_Missense_Mutation_p.A205T	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	191	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.A205T(1)|p.A188T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCTGATGGCCGCATACCTGGC	0.672																																						ENST00000403096.3																			2	Substitution - Missense(2)	p.A205T(1)|p.A188T(1)	kidney(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(493-495)Gca>Aca		collectin sub-family member 11							36.0	40.0	39.0					2																	3691463		2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691463G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.571G>A	2.37:g.3691463G>A	ENSP00000339168:p.Ala191Thr					COLEC11_ENST00000402922.1_Missense_Mutation_p.A141T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A141T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A167T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.A205T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A188T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A117T|COLEC11_ENST00000349077.4_Missense_Mutation_p.A191T	p.A165T	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	984	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		191			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.493G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623376	0.14193	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.2	-0.861	0.10676	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.695666	0.15318	N	0.268725	T	0.07413	0.0187	N	0.11313	0.125	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.22211	0.009;0.002;0.008;0.002;0.002;0.001;0.002;0.006;0.066	B;B;B;B;B;B;B;B;B	0.16289	0.003;0.002;0.002;0.002;0.002;0.002;0.003;0.015;0.007	T	0.26360	-1.0105	10	0.42905	T	0.14	-5.3795	6.5381	0.22365	0.1754:0.0:0.3207:0.5039	.	117;141;141;165;143;167;167;191;188	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	T	167;188;191;205;165;141;117;141	ENSP00000371494:A167T;ENSP00000236693:A188T;ENSP00000339168:A191T;ENSP00000411770:A205T;ENSP00000385130:A165T;ENSP00000384882:A141T;ENSP00000385827:A117T;ENSP00000385653:A141T	ENSP00000236693:A188T	A	+	1	0	COLEC11	3669338	0.628000	0.27138	0.350000	0.25708	0.027000	0.11550	2.152000	0.42272	-0.402000	0.07633	-0.444000	0.05651	GCA		0.672	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		77	260	0	0	0	1	0	77	260				
TSTA3	7264	broad.mit.edu	37	8	144695733	144695733	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144695733C>T	ENST00000425753.2	-	9	874	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TSTA3_ENST00000529064.1_Silent_p.E257E	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	257					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCACCACCGCCTCGGCTGCCT	0.667																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(769-771)gaG>gaA		tissue specific transplantation antigen P35B	NADH(DB00157)						24.0	24.0	24.0					8																	144695733		2201	4298	6499	SO:0001819	synonymous_variant	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144695733C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.771G>A	8.37:g.144695733C>T						TSTA3_ENST00000529064.1_Silent_p.E257E	p.E257E	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		9	874	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		257					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	ENST00000425753.2	37	c.771G>A	CCDS6408.1																																																																																				0.667	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		20	117	0	0	0	1	0	20	117				
IGF2BP2	10644	broad.mit.edu	37	3	185407235	185407235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185407235C>T	ENST00000382199.2	-	6	680	c.585G>A	c.(583-585)ccG>ccA	p.P195P	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000421047.2_Silent_p.P138P|IGF2BP2_ENST00000457616.2_Silent_p.P201P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	195	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATCCGCAGCGGGAAATCAA	0.622																																						ENST00000382199.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(583-585)ccG>ccA		insulin-like growth factor 2 mRNA binding protein 2							90.0	93.0	92.0					3																	185407235		2203	4300	6503	SO:0001819	synonymous_variant	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185407235C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.585G>A	3.37:g.185407235C>T						IGF2BP2_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000421047.2_Silent_p.P138P|IGF2BP2_ENST00000457616.2_Silent_p.P201P	p.P195P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		6	680	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		195			KH 1.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	c.585G>A	CCDS3273.2																																																																																				0.622	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		118	622	0	0	0	1	0	118	622				
GAPVD1	26130	broad.mit.edu	37	9	128125011	128125011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128125011G>A	ENST00000495955.1	+	28	4713	c.4423G>A	c.(4423-4425)Gat>Aat	p.D1475N	GAPVD1_ENST00000470056.1_Missense_Mutation_p.D1430N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1475	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAAAACCATCGATGACCGAAA	0.463																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(4288-4290)Gat>Aat		GTPase activating protein and VPS9 domains 1							101.0	88.0	92.0					9																	128125011		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128125011G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4423G>A	9.37:g.128125011G>A	ENSP00000419063:p.Asp1475Asn					GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N	p.D1430N			Q14C86	GAPD1_HUMAN			25	4448	+			1475			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.4288G>A		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148857	0.78001	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.32	5.32	0.75619	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.48218	1.51	0.80722	D	1	P;P;D;D;D;D	0.57571	0.887;0.943;0.98;0.98;0.98;0.965	P;P;P;P;P;P	0.50082	0.614;0.63;0.61;0.61;0.61;0.61	T	0.08249	-1.0731	10	0.42905	T	0.14	.	18.3413	0.90307	0.0:0.0:1.0:0.0	.	1475;490;1430;1436;1457;1484	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	N	1430;1484;1475;1449;1409;1475;1457;1436;168	ENSP00000419767:D1430N;ENSP00000377665:D1484N;ENSP00000377664:D1475N;ENSP00000265956:D1449N;ENSP00000377645:D1409N;ENSP00000419063:D1475N;ENSP00000297933:D1457N;ENSP00000309582:D1436N	ENSP00000265956:D1449N	D	+	1	0	GAPVD1	127164832	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.325000	0.96381	2.628000	0.89032	0.655000	0.94253	GAT		0.463	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			53	226	0	0	0	1	0	53	226				
DOK5	55816	broad.mit.edu	37	20	53260055	53260055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53260055G>A	ENST00000262593.5	+	7	1144	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	265					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.R265H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCCCTGCCTCGCAGCGCCTAC	0.627																																						ENST00000262593.5																			1	Substitution - Missense(1)	p.R265H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(793-795)cGc>cAc		docking protein 5							56.0	51.0	53.0					20																	53260055		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53260055G>A	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.794G>A	20.37:g.53260055G>A	ENSP00000262593:p.Arg265His					DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	p.R265H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		7	1144	+			265					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.794G>A	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975817	0.92982	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.93426	-2.23;-3.22	5.29	5.29	0.74685	.	0.057208	0.64402	D	0.000001	D	0.94863	0.8340	L	0.36672	1.1	0.58432	D	0.999991	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.964	D	0.95295	0.8398	10	0.59425	D	0.04	-7.3495	17.9128	0.88939	0.0:0.0:1.0:0.0	.	157;265	Q9P104-2;Q9P104	.;DOK5_HUMAN	H	265;157	ENSP00000262593:R265H;ENSP00000379270:R157H	ENSP00000262593:R265H	R	+	2	0	DOK5	52693462	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.468000	0.73551	2.464000	0.83262	0.563000	0.77884	CGC		0.627	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			61	248	0	0	0	1	0	61	248				
HEATR1	55127	broad.mit.edu	37	1	236755883	236755883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236755883G>T	ENST00000366582.3	-	10	1358	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	415					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACTTTATTAGAATCCATTTC	0.289																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1243-1245)tCt>tAt		HEAT repeat containing 1							61.0	53.0	56.0					1																	236755883		2197	4289	6486	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236755883G>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1244C>A	1.37:g.236755883G>T	ENSP00000355541:p.Ser415Tyr					HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		10	1358	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	415					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1244C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512596	0.27123	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.68624	3.36;-0.34	5.25	5.25	0.73442	Armadillo-type fold (1);	0.651120	0.15867	N	0.240715	T	0.65186	0.2667	L	0.50333	1.59	0.80722	D	1	P	0.45474	0.859	B	0.40101	0.319	T	0.70547	-0.4842	10	0.62326	D	0.03	.	18.8399	0.92180	0.0:0.0:1.0:0.0	.	415	Q9H583	HEAT1_HUMAN	Y	415	ENSP00000355541:S415Y;ENSP00000355540:S415Y	ENSP00000355540:S415Y	S	-	2	0	HEATR1	234822506	0.641000	0.27251	0.057000	0.19452	0.292000	0.27327	4.352000	0.59404	2.458000	0.83093	0.650000	0.86243	TCT		0.289	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		11	46	1	0	2.80697e-09	1	2.95087e-09	11	46				
TLN1	7094	broad.mit.edu	37	9	35715097	35715097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715097C>T	ENST00000314888.9	-	21	3066	c.2713G>A	c.(2713-2715)Gcg>Acg	p.A905T	TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	905					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCTGCGCAGCTGCATTG	0.622																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2713-2715)Gcg>Acg		talin 1							74.0	79.0	77.0					9																	35715097		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35715097C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2713G>A	9.37:g.35715097C>T	ENSP00000316029:p.Ala905Thr					TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	p.A905T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		21	3066	-	all_epithelial(49;0.167)		905					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2713G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557532	0.65425	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.72282	-0.58;-0.64	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.37697	1.125	0.80722	D	1	B	0.31009	0.303	B	0.32393	0.145	T	0.61431	-0.7064	10	0.34782	T	0.22	-13.5951	19.7629	0.96329	0.0:1.0:0.0:0.0	.	905	Q9Y490	TLN1_HUMAN	T	905	ENSP00000316029:A905T;ENSP00000442981:A905T	ENSP00000316029:A905T	A	-	1	0	TLN1	35705097	1.000000	0.71417	0.876000	0.34364	0.431000	0.31685	7.783000	0.85696	2.666000	0.90696	0.561000	0.74099	GCG		0.622	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		111	524	0	0	0	1	0	111	524				
CCL14	6358	broad.mit.edu	37	17	34313705	34313705	+	5'UTR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34313705G>T	ENST00000394509.4	-	0	89				CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000536149.1_5'UTR|CCL14_ENST00000480944.2_5'UTR|CTB-186H2.3_ENST00000591669.1_Nonsense_Mutation_p.G51*|CTB-186H2.3_ENST00000593057.1_3'UTR|CCL14_ENST00000586216.1_5'UTR|CCL14_ENST00000435911.2_5'Flank			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14						cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCTGTTGTGGGAGGAGAGCT	0.512																																						ENST00000591669.1																			0											c.(151-153)Gga>Tga									150.0	109.0	123.0					17																	34313705		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0							g.chr17:34313705G>T	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.-20C>A	17.37:g.34313705G>T						CCL14_ENST00000394509.4_5'UTR|CTB-186H2.3_ENST00000593057.1_3'UTR|CCL14_ENST00000480944.2_5'UTR|CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000586216.1_5'UTR	p.G51*							2	277	+								E1P649|E1P650|Q13954	Nonsense_Mutation	SNP	ENST00000394509.4	37	c.151G>T	CCDS32624.1																																																																																				0.512	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962		35	144	1	0	2.47316e-13	1	2.66891e-13	35	144				
SDR16C5	195814	broad.mit.edu	37	8	57228591	57228591	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57228591A>C	ENST00000303749.3	-	2	953	c.316T>G	c.(316-318)Tat>Gat	p.Y106D	SDR16C5_ENST00000522671.1_Missense_Mutation_p.Y106D|SDR16C5_ENST00000396721.2_Missense_Mutation_p.Y106D	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	106					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GCTACTCTATACACTCCTTCC	0.453																																						ENST00000396721.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(316-318)Tat>Gat		short chain dehydrogenase/reductase family 16C, member 5							107.0	113.0	111.0					8																	57228591		2203	4300	6503	SO:0001583	missense	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57228591A>C		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.316T>G	8.37:g.57228591A>C	ENSP00000307607:p.Tyr106Asp					SDR16C5_ENST00000522671.1_Missense_Mutation_p.Y106D|SDR16C5_ENST00000303749.3_Missense_Mutation_p.Y106D	p.Y106D			Q8N3Y7	RDHE2_HUMAN			2	446	-			106					B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	c.316T>G	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174254	0.57692	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.86627	-2.15;-2.15;-2.15	5.14	5.14	0.70334	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	N	0.04116	-0.275	0.80722	D	1	P;D;D	0.89917	0.86;1.0;1.0	P;D;D	0.97110	0.535;0.995;1.0	D	0.89344	0.3656	10	0.62326	D	0.03	.	14.9552	0.71107	1.0:0.0:0.0:0.0	.	106;106;106	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	D	106	ENSP00000379947:Y106D;ENSP00000307607:Y106D;ENSP00000431010:Y106D	ENSP00000307607:Y106D	Y	-	1	0	SDR16C5	57391145	1.000000	0.71417	0.042000	0.18584	0.429000	0.31625	8.928000	0.92853	1.950000	0.56595	0.460000	0.39030	TAT		0.453	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		121	498	0	0	0	1	0	121	498				
ASPH	444	broad.mit.edu	37	8	62465611	62465611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62465611C>T	ENST00000379454.4	-	20	1792	c.1605G>A	c.(1603-1605)atG>atA	p.M535I	ASPH_ENST00000541428.1_Missense_Mutation_p.M506I	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	535					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAACCCTCTGCATGGCATCCC	0.413																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1516-1518)atG>atA		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						217.0	236.0	230.0					8																	62465611		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62465611C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1605G>A	8.37:g.62465611C>T	ENSP00000368767:p.Met535Ile					ASPH_ENST00000379454.4_Missense_Mutation_p.M535I	p.M506I	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			20	1678	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	535					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1518G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345436	0.61073	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.29917	1.56;1.55	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.122777	0.56097	D	0.000023	T	0.21550	0.0519	N	0.14661	0.345	0.80722	D	1	B;B	0.29988	0.264;0.172	B;B	0.29785	0.107;0.05	T	0.05835	-1.0861	10	0.54805	T	0.06	-21.9674	15.0308	0.71705	0.0:0.9303:0.0:0.0697	.	506;535	F5H667;Q12797	.;ASPH_HUMAN	I	506;535	ENSP00000437864:M506I;ENSP00000368767:M535I	ENSP00000368767:M535I	M	-	3	0	ASPH	62628165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.560000	0.53763	2.700000	0.92200	0.655000	0.94253	ATG		0.413	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		241	1116	0	0	0	1	0	241	1116				
KCNJ11	3767	broad.mit.edu	37	11	17408593	17408593	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408593A>C	ENST00000339994.4	-	1	1613	c.1046T>G	c.(1045-1047)cTt>cGt	p.L349R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	349					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GTCCTCATCAAGCTGGCGGGC	0.627											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(1045-1047)cTt>cGt		potassium inwardly-rectifying channel, subfamily J, member 11							122.0	112.0	115.0					11																	17408593		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408593A>C	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1046T>G	11.37:g.17408593A>C	ENSP00000345708:p.Leu349Arg		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R	p.L349R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1613	-			262					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.1046T>G	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990903	0.74703	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.92545	-3.06;-3.06	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.95557	0.8556	M	0.75150	2.29	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.96066	0.9042	10	0.87932	D	0	.	15.4806	0.75524	1.0:0.0:0.0:0.0	.	349	B2RC52	.	R	349;262	ENSP00000345708:L349R;ENSP00000434755:L262R	ENSP00000345708:L349R	L	-	2	0	KCNJ11	17365169	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.339000	0.96797	2.060000	0.61445	0.459000	0.35465	CTT		0.627	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		39	494	0	0	0	1	0	39	494				
PNPLA8	50640	broad.mit.edu	37	7	108155556	108155556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108155556G>A	ENST00000422087.1	-	4	786	c.380C>T	c.(379-381)gCt>gTt	p.A127V	PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V|PNPLA8_ENST00000426128.2_Missense_Mutation_p.A127V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	127					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTTAAATTGAGCTAAACGTGA	0.318																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(379-381)gCt>gTt		patatin-like phospholipase domain containing 8							58.0	61.0	60.0					7																	108155556		2203	4299	6502	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155556G>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.380C>T	7.37:g.108155556G>A	ENSP00000410804:p.Ala127Val					PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000422087.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V	p.A127V	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			2	505	-			127					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.380C>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450732	0.26074	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98120	-3.51;-4.73;-3.51;-4.73;-4.71;-4.73;-4.7	5.78	3.05	0.35203	.	0.352176	0.32190	N	0.006453	D	0.93602	0.7957	N	0.25890	0.77	0.25824	N	0.984256	B	0.12013	0.005	B	0.11329	0.006	D	0.85914	0.1442	10	0.36615	T	0.2	.	9.7728	0.40601	0.2568:0.0:0.7432:0.0	.	127	Q9NP80	PLPL8_HUMAN	V	127;127;127;127;27;127;27;127	ENSP00000394988:A127V;ENSP00000257694:A127V;ENSP00000373380:A127V;ENSP00000410804:A127V;ENSP00000387789:A27V;ENSP00000406779:A127V;ENSP00000402274:A27V	ENSP00000257694:A127V	A	-	2	0	PNPLA8	107942792	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.621000	0.46418	0.386000	0.24997	-1.019000	0.02448	GCT		0.318	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		22	262	0	0	0	1	0	22	262				
TNS1	7145	broad.mit.edu	37	2	218713723	218713723	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218713723G>A	ENST00000171887.4	-	17	1594	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	TNS1_ENST00000430930.1_Missense_Mutation_p.A381V|TNS1_ENST00000419504.1_Missense_Mutation_p.A381V|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	381					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)		GGCATTAACAGCCCCGGTGCT	0.602																																						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.(1141-1143)gCt>gTt		tensin 1							162.0	155.0	158.0					2																	218713723		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713723G>A	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.1142C>T	2.37:g.218713723G>A	ENSP00000171887:p.Ala381Val					TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.A381V|TNS1_ENST00000430930.1_Missense_Mutation_p.A381V	p.A381V	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)	17	1594	-		Renal(207;0.0483)|Lung NSC(271;0.213)	381					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1142C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342895	0.24339	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554	D;D;D;D;D	0.95949	-2.97;-2.96;-2.97;-3.44;-3.86	5.17	2.34	0.29019	.	0.976044	0.08411	N	0.949829	D	0.93109	0.7806	L	0.54323	1.7	0.21652	N	0.999606	B;B;B;B;B	0.17667	0.002;0.006;0.023;0.003;0.003	B;B;B;B;B	0.18263	0.003;0.011;0.021;0.002;0.002	D	0.85020	0.0911	10	0.62326	D	0.03	.	8.059	0.30623	0.144:0.1316:0.7243:0.0	.	381;435;381;381;381	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	381;381;381;506;449	ENSP00000171887:A381V;ENSP00000408724:A381V;ENSP00000406016:A381V;ENSP00000405460:A506V;ENSP00000400383:A449V	ENSP00000171887:A381V	A	-	2	0	TNS1	218421968	0.942000	0.31987	0.110000	0.21437	0.824000	0.46624	3.924000	0.56476	0.318000	0.23185	0.655000	0.94253	GCT		0.602	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		198	982	0	0	0	1	0	198	982				
MRPL47	57129	broad.mit.edu	37	3	179316509	179316509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179316509G>A	ENST00000476781.1	-	4	385	c.356C>T	c.(355-357)gCc>gTc	p.A119V	MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V|MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	119					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTGCCGCTTGGCCTCCTGCTC	0.428																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(355-357)gCc>gTc		mitochondrial ribosomal protein L47							144.0	134.0	138.0					3																	179316509		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179316509G>A	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.356C>T	3.37:g.179316509G>A	ENSP00000417602:p.Ala119Val					MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V|MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V	p.A119V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		4	385	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		119					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.356C>T	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257331	0.95368	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.46451	1.39;1.41;0.87	6.17	6.17	0.99709	.	0.178216	0.48286	D	0.000191	T	0.63873	0.2548	M	0.66439	2.03	0.44562	D	0.997529	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	T	0.52185	-0.8609	10	0.20046	T	0.44	-12.1073	20.4745	0.99168	0.0:0.0:1.0:0.0	.	99;119	Q9HD33-2;Q9HD33	.;RM47_HUMAN	V	119;99;9	ENSP00000417602:A119V;ENSP00000259038:A99V;ENSP00000376427:A9V	ENSP00000259038:A99V	A	-	2	0	MRPL47	180799203	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.610000	0.82949	2.941000	0.99782	0.655000	0.94253	GCC		0.428	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		86	349	0	0	0	1	0	86	349				
DENND4A	10260	broad.mit.edu	37	15	65982789	65982789	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65982789C>A	ENST00000431932.2	-	22	4219	c.4011G>T	c.(4009-4011)tgG>tgT	p.W1337C	DENND4A_ENST00000443035.3_Missense_Mutation_p.W1380C|DENND4A_ENST00000567323.1_5'UTR	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1337					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATCTTGAATACCATTTGCTTG	0.373																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(4138-4140)tgG>tgT		DENN/MADD domain containing 4A							125.0	115.0	118.0					15																	65982789		2008	4166	6174	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65982789C>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4011G>T	15.37:g.65982789C>A	ENSP00000396830:p.Trp1337Cys					DENND4A_ENST00000431932.2_Missense_Mutation_p.W1337C|DENND4A_ENST00000567323.1_5'UTR	p.W1380C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			23	4355	-			1337					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4140G>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147367	0.57151	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.07444	3.24;3.19	5.46	5.46	0.80206	.	0.311255	0.33199	N	0.005172	T	0.26122	0.0637	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68192	0.921;0.956	T	0.00184	-1.1944	10	0.62326	D	0.03	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	1380;1337	E7EPL3;Q7Z401	.;MYCPP_HUMAN	C	1380;1337	ENSP00000391167:W1380C;ENSP00000396830:W1337C	ENSP00000396830:W1337C	W	-	3	0	DENND4A	63769843	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.684000	0.46951	2.576000	0.86940	0.650000	0.86243	TGG		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		25	155	1	0	1.66031e-10	1	1.76115e-10	25	155				
PHLPP1	23239	broad.mit.edu	37	18	60563230	60563230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60563230A>C	ENST00000262719.5	+	6	2664	c.2430A>C	c.(2428-2430)aaA>aaC	p.K810N	PHLPP1_ENST00000400316.4_Missense_Mutation_p.K298N			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	810					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CTCACATTAAACATGTGGATC	0.398																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(892-894)aaA>aaC		PH domain and leucine rich repeat protein phosphatase 1							63.0	58.0	60.0					18																	60563230		1852	4094	5946	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60563230A>C	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2430A>C	18.37:g.60563230A>C	ENSP00000262719:p.Lys810Asn					PHLPP1_ENST00000262719.5_Missense_Mutation_p.K810N	p.K298N	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			6	2675	+			810					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.894A>C	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931076	0.73327	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26810	1.71;1.71	5.07	1.4	0.22301	.	.	.	.	.	T	0.33962	0.0881	L	0.50993	1.605	0.46011	D	0.998815	D	0.65815	0.995	P	0.56700	0.804	T	0.07790	-1.0754	9	0.62326	D	0.03	-17.1732	9.0123	0.36148	0.5768:0.0:0.4232:0.0	.	810	O60346	PHLP1_HUMAN	N	298;810	ENSP00000383170:K298N;ENSP00000262719:K810N	ENSP00000262719:K810N	K	+	3	2	PHLPP1	58714210	0.578000	0.26717	1.000000	0.80357	0.996000	0.88848	-0.019000	0.12546	0.420000	0.25954	0.533000	0.62120	AAA		0.398	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		25	118	0	0	0	1	0	25	118				
NOS1	4842	broad.mit.edu	37	12	117703293	117703293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117703293T>C	ENST00000338101.4	-	11	1968	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G	NOS1_ENST00000317775.6_Missense_Mutation_p.D655G|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGAGTGATGGTCAACAATGGT	0.597																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1963-1965)gAc>gGc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						50.0	49.0	50.0					12																	117703293		2063	4244	6307	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117703293T>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1964A>G	12.37:g.117703293T>C	ENSP00000337459:p.Asp655Gly					NOS1_ENST00000338101.4_Missense_Mutation_p.D655G|NOS1_ENST00000344089.3_3'UTR	p.D655G	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	12	2649	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		655						Missense_Mutation	SNP	ENST00000338101.4	37	c.1964A>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834508	0.91036	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.57595	0.39;0.39	5.37	5.37	0.77165	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84567	0.0653	10	0.87932	D	0	-44.1366	15.5335	0.75983	0.0:0.0:0.0:1.0	.	655	P29475	NOS1_HUMAN	G	550;655;655;655	ENSP00000320758:D655G;ENSP00000337459:D655G	ENSP00000320758:D655G	D	-	2	0	NOS1	116187676	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.778000	0.85637	2.254000	0.74563	0.533000	0.62120	GAC		0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	41	0	0	0	1	0	8	41				
GPAM	57678	broad.mit.edu	37	10	113937793	113937793	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113937793A>G	ENST00000348367.4	-	5	445	c.248T>C	c.(247-249)aTc>aCc	p.I83T	GPAM_ENST00000423155.1_Missense_Mutation_p.I83T|GPAM_ENST00000369425.1_Missense_Mutation_p.I83T|GPAM_ENST00000480130.1_5'Flank			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	83					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CAAAGACGGGATACTGGGGTT	0.308																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(247-249)aTc>aCc		glycerol-3-phosphate acyltransferase, mitochondrial							45.0	50.0	48.0					10																	113937793		2203	4297	6500	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113937793A>G	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.248T>C	10.37:g.113937793A>G	ENSP00000265276:p.Ile83Thr					GPAM_ENST00000423155.1_Missense_Mutation_p.I83T|GPAM_ENST00000369425.1_Missense_Mutation_p.I83T	p.I83T			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	5	445	-			83					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.248T>C	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010639	0.75046	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.40756	1.02;1.02;1.02	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.55213	1.73	0.58432	D	0.999998	D;D	0.71674	0.981;0.998	D;D	0.76071	0.966;0.987	T	0.50659	-0.8802	10	0.09843	T	0.71	-21.1449	15.1293	0.72511	1.0:0.0:0.0:0.0	.	83;83	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	T	83	ENSP00000265276:I83T;ENSP00000409242:I83T;ENSP00000358433:I83T	ENSP00000265276:I83T	I	-	2	0	GPAM	113927783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.603000	0.90871	2.044000	0.60594	0.528000	0.53228	ATC		0.308	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		40	189	0	0	0	1	0	40	189				
TNRC18	84629	broad.mit.edu	37	7	5401540	5401540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5401540C>T	ENST00000430969.1	-	13	4868	c.4520G>A	c.(4519-4521)cGc>cAc	p.R1507H	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1507H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1507							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGAGTCCCGGCGGCGCTGCAG	0.726																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4519-4521)cGc>cAc		trinucleotide repeat containing 18							7.0	9.0	8.0					7																	5401540		1958	4122	6080	SO:0001583	missense	84629						DNA binding	g.chr7:5401540C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4520G>A	7.37:g.5401540C>T	ENSP00000395538:p.Arg1507His					TNRC18_ENST00000430969.1_Missense_Mutation_p.R1507H	p.R1507H			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	13	4868	-		Ovarian(82;0.142)	1507					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.4520G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736967	0.89482	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.28069	2.05;2.04;1.63	5.41	5.41	0.78517	.	0.181348	0.27782	N	0.017880	T	0.59280	0.2182	M	0.77820	2.39	0.50632	D	0.999887	D	0.89917	1.0	D	0.74023	0.982	T	0.63075	-0.6718	10	0.72032	D	0.01	.	19.1717	0.93580	0.0:1.0:0.0:0.0	.	1507	O15417	TNC18_HUMAN	H	1507;1507;562;40	ENSP00000382452:R1507H;ENSP00000395538:R1507H;ENSP00000395990:R40H	ENSP00000382452:R1507H	R	-	2	0	TNRC18	5368066	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	2.896000	0.48656	2.541000	0.85698	0.561000	0.74099	CGC		0.726	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	38	0	0	0	1	0	6	38				
LRRC6	23639	broad.mit.edu	37	8	133627315	133627315	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133627315T>G	ENST00000519595.1	-	8	1041	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	LRRC6_ENST00000518642.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	315	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGATCTGCTTTTCGTTATCT	0.313																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(943-945)Aag>Cag		leucine rich repeat containing 6							82.0	84.0	83.0					8																	133627315		2202	4294	6496	SO:0001583	missense	23639					cytoplasm		g.chr8:133627315T>G	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.943A>C	8.37:g.133627315T>G	ENSP00000429791:p.Lys315Gln					LRRC6_ENST00000518642.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q	p.K315Q			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		8	1041	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		315			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.943A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.334786|1.334786	0.24253|0.24253	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414|ENST00000519085	T;T;T|.	0.50813|.	0.73;0.95;0.73|.	4.93|4.93	2.54|2.54	0.30619|0.30619	CS-like domain (1);|.	0.318240|0.318240	0.35436|0.35436	N|N	0.003212|0.003212	T|T	0.41096|0.41096	0.1144|0.1144	L|L	0.58669|0.58669	1.825|1.825	0.21499|0.21499	N|N	0.999661|0.999661	P|.	0.42735|.	0.788|.	B|.	0.24006|.	0.05|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|6	0.41790|.	T|.	0.15|.	-18.0453|-18.0453	5.7871|5.7871	0.18338|0.18338	0.0:0.2776:0.0:0.7224|0.0:0.2776:0.0:0.7224	.|.	315|.	Q86X45|.	LRRC6_HUMAN|.	Q|T	315|36	ENSP00000429791:K315Q;ENSP00000428610:K315Q;ENSP00000250173:K315Q|.	ENSP00000250173:K315Q|.	K|K	-|-	1|2	0|0	LRRC6|LRRC6	133696497|133696497	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.664000|0.664000	0.39144|0.39144	1.613000|1.613000	0.36900|0.36900	0.831000|0.831000	0.34780|0.34780	0.460000|0.460000	0.39030|0.39030	AAG|AAA		0.313	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		54	223	0	0	0	1	0	54	223				
SLC18A2	6571	broad.mit.edu	37	10	119003809	119003809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003809G>A	ENST00000298472.5	+	3	592	c.449G>A	c.(448-450)gGa>gAa	p.G150E	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	150					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTTTCATAGGACTACTGACC	0.448																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(448-450)gGa>gAa		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						52.0	50.0	50.0					10																	119003809		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003809G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.449G>A	10.37:g.119003809G>A	ENSP00000298472:p.Gly150Glu					SLC18A2_ENST00000497497.1_3'UTR	p.G150E	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	592	+		Colorectal(252;0.19)	150					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.449G>A	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815283	0.90790	.	.	ENSG00000165646	ENST00000298472	T	0.73469	-0.75	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91690	0.5365	10	0.87932	D	0	-11.3411	18.0482	0.89340	0.0:0.0:1.0:0.0	.	150	Q05940	VMAT2_HUMAN	E	150	ENSP00000298472:G150E	ENSP00000298472:G150E	G	+	2	0	SLC18A2	118993799	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	GGA		0.448	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		22	104	0	0	0	1	0	22	104				
ZIC4	84107	broad.mit.edu	37	3	147114110	147114110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114110C>T	ENST00000383075.3	-	3	729	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.A73T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A123T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	73						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCGGCCGCGCGTACATGTCT	0.716																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(217-219)Gcg>Acg		Zic family member 4							10.0	13.0	12.0					3																	147114110		1881	4072	5953	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114110C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.217G>A	3.37:g.147114110C>T	ENSP00000372553:p.Ala73Thr					ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A123T|ZIC4_ENST00000473123.1_Missense_Mutation_p.A73T|ZIC4_ENST00000491672.1_Intron	p.A73T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	729	-			73					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.217G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475912	0.63737	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.01	4.13	0.48395	.	0.364730	0.20039	N	0.100557	T	0.26521	0.0648	L	0.27053	0.805	0.80722	D	1	D;B	0.56746	0.977;0.219	P;B	0.44673	0.457;0.013	T	0.01266	-1.1401	10	0.35671	T	0.21	.	9.2434	0.37511	0.0:0.8383:0.0:0.1617	.	123;73	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	73;111;123;73;73;73;73	ENSP00000372553:A73T;ENSP00000397695:A111T;ENSP00000435509:A123T;ENSP00000417855:A73T;ENSP00000420775:A73T;ENSP00000420627:A73T	ENSP00000372553:A73T	A	-	1	0	ZIC4	148596800	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.565000	0.36386	2.321000	0.78463	0.561000	0.74099	GCG		0.716	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			28	104	0	0	0	1	0	28	104				
NRG1	3084	broad.mit.edu	37	8	32600219	32600219	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32600219G>A	ENST00000405005.3	+	7	700				NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Missense_Mutation_p.R220H|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Missense_Mutation_p.R165H|NRG1_ENST00000341377.5_Missense_Mutation_p.A243T|NRG1_ENST00000523079.1_Missense_Mutation_p.R220H|NRG1_ENST00000287845.5_Missense_Mutation_p.R186H|NRG1_ENST00000539990.1_Missense_Mutation_p.R66H|NRG1_ENST00000520407.1_Missense_Mutation_p.R401H|NRG1_ENST00000287842.3_Missense_Mutation_p.R220H|NRG1_ENST00000520502.2_Missense_Mutation_p.R275H			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACTGGTGATCGCTGCCAAAAC	0.428																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(727-729)Gct>Act		neuregulin 1							225.0	192.0	203.0					8																	32600219		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32600219G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.700+626G>A	8.37:g.32600219G>A						NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Missense_Mutation_p.R220H|NRG1_ENST00000539990.1_Missense_Mutation_p.R66H|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Missense_Mutation_p.R165H|NRG1_ENST00000287845.5_Missense_Mutation_p.R186H|NRG1_ENST00000523079.1_Missense_Mutation_p.R220H|NRG1_ENST00000520502.2_Missense_Mutation_p.R275H|NRG1_ENST00000287842.3_Missense_Mutation_p.R220H|NRG1_ENST00000520407.1_Missense_Mutation_p.R401H|NRG1_ENST00000405005.2_Intron	p.A243T			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	8	1244	+		Breast(100;0.203)	632					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.727G>A	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900372|4.900372	0.92035|0.92035	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000341377;ENST00000523041|ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000356819;ENST00000287845;ENST00000287842;ENST00000520502;ENST00000518084;ENST00000519240;ENST00000539990	T|D;D;D;D;D;D;D;D;T;T;T;D	0.77489|0.91996	-1.1|-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;1.46;0.94;1.46;-2.95	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|.	.|.	.|.	.|.	D|D	0.97090|0.97090	0.9049|0.9049	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	B|D;D;D;D;D;D;D;D;D;D;D	0.31054|0.89917	0.306|1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0;0.999;1.0	B|D;D;D;D;D;P;D;D;D;D;D	0.28385|0.85130	0.089|0.997;0.985;0.982;0.96;0.985;0.823;0.996;0.982;0.982;0.943;0.989	D|D	0.97037|0.97037	0.9754|0.9754	9|9	0.87932|0.87932	D|D	0|0	.|.	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243|66;220;186;220;219;185;275;220;220;220;401	Q02297-4|B7Z1E3;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;Q02297-10;Q02297-7;Q02297-6;Q02297-8;Q02297-9	.|.;.;.;.;.;.;.;.;.;.;.	T|H	243;192|182;165;401;288;220;220;186;220;275;66;66;66	ENSP00000340497:A243T|ENSP00000430053:R182H;ENSP00000429582:R165H;ENSP00000434640:R401H;ENSP00000429067:R288H;ENSP00000430120:R220H;ENSP00000349275:R220H;ENSP00000287845:R186H;ENSP00000287842:R220H;ENSP00000433289:R275H;ENSP00000428546:R66H;ENSP00000428411:R66H;ENSP00000439276:R66H	ENSP00000340497:A243T|ENSP00000287842:R220H	A|R	+|+	1|2	0|0	NRG1|NRG1	32719761|32719761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.837000|9.837000	0.99465|0.99465	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.428	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			178	626	0	0	0	1	0	178	626				
RREB1	6239	broad.mit.edu	37	6	7211110	7211110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7211110C>T	ENST00000349384.6	+	7	813	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	167					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAACGTAGGCGATTGTCCTC	0.507																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(499-501)Cga>Tga		ras responsive element binding protein 1							138.0	130.0	133.0					6																	7211110		2203	4300	6503	SO:0001587	stop_gained	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7211110C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.499C>T	6.37:g.7211110C>T	ENSP00000305560:p.Arg167*					RREB1_ENST00000349384.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*	p.R167*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			7	1036	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	167					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.499C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427465	0.83667	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.29	4.41	0.53225	.	0.000000	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.4759	12.2018	0.54331	0.3093:0.6907:0.0:0.0	.	.	.	.	X	167	.	ENSP00000335574:R167X	R	+	1	2	RREB1	7156109	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.004000	0.40854	1.228000	0.43614	0.585000	0.79938	CGA		0.507	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			107	508	0	0	0	1	0	107	508				
C3	718	broad.mit.edu	37	19	6712565	6712565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6712565G>A	ENST00000245907.6	-	10	1165	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	358					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGGTGTCTTGGTGAAGTGGAT	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1072-1074)aCc>aTc		complement component 3							257.0	229.0	239.0					19																	6712565		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6712565G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1073C>T	19.37:g.6712565G>A	ENSP00000245907:p.Thr358Ile						p.T358I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	10	1165	-			358					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1073C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824585	0.71143	.	.	ENSG00000125730	ENST00000245907	T	0.31769	1.48	5.13	5.13	0.70059	.	0.153860	0.56097	D	0.000025	T	0.55401	0.1918	M	0.84082	2.675	0.31171	N	0.703253	D	0.89917	1.0	D	0.77557	0.99	T	0.60301	-0.7290	10	0.24483	T	0.36	.	13.1534	0.59503	0.0:0.1611:0.8389:0.0	.	358	P01024	CO3_HUMAN	I	358	ENSP00000245907:T358I	ENSP00000245907:T358I	T	-	2	0	C3	6663565	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.349000	0.44054	2.392000	0.81423	0.561000	0.74099	ACC		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		69	857	0	0	0	1	0	69	857				
CHMP4A	29082	broad.mit.edu	37	14	24679614	24679614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679614C>A	ENST00000609024.1	-	5	598	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*|CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|CHMP4A_ENST00000530996.1_Nonsense_Mutation_p.E79*|TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.E184*|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	184	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GGTTCTTCTTCCTTGTCGCCC	0.517																																						ENST00000530611.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(550-552)Gaa>Taa		transmembrane 9 superfamily member 1							199.0	208.0	205.0					14																	24679614		2203	4300	6503	SO:0001587	stop_gained	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24679614C>A	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.550G>T	14.37:g.24679614C>A	ENSP00000476412:p.Glu184*					CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*	p.E184*			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	5	583	-			0					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Nonsense_Mutation	SNP	ENST00000609024.1	37	c.550G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245092|3.245092	0.59103|0.59103	.|.	.|.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505|ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011|ENST00000548308	.|.	.|.	.|.	5.46|5.46	3.62|3.62	0.41486|0.41486	.|.	0.313069|.	0.22848|.	N|.	0.054881|.	.|T	.|0.50360	.|0.1611	.|.	.|.	.|.	0.58432|0.58432	A|A	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59658	.|-0.7413	.|3	0.09590|.	T|.	0.72|.	-7.7942|-7.7942	8.6606|8.6606	0.34091|0.34091	0.0:0.8202:0.0:0.1798|0.0:0.8202:0.0:0.1798	.|.	.|.	.|.	.|.	X|V	184;184;227;194|166	.|.	ENSP00000324205:E227X|.	E|G	-|-	1|2	0|0	TM9SF1;AL096870.1;RP11-468E2.1|AL096870.1	23749454|23749454	0.017000|0.017000	0.18338|0.18338	0.983000|0.983000	0.44433|0.44433	0.596000|0.596000	0.36781|0.36781	1.319000|1.319000	0.33655|0.33655	1.298000|1.298000	0.44778|0.44778	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.517	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		30	932	1	0	1.17739e-12	1	1.26592e-12	30	932				
EHMT1	79813	broad.mit.edu	37	9	140672344	140672344	+	Missense_Mutation	SNP	C	C	T	rs137852719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140672344C>T	ENST00000460843.1	+	13	2056	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	677					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCTGCCGGGCCACCACTCTC	0.602																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2029-2031)Cca>Tca		euchromatic histone-lysine N-methyltransferase 1							101.0	118.0	112.0					9																	140672344		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140672344C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2029C>T	9.37:g.140672344C>T	ENSP00000417980:p.Pro677Ser					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S	p.P677S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	13	2056	+	all_cancers(76;0.164)		677					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.2029C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312869	0.23908	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.68181	1.79;1.04;-0.31	4.66	-0.427	0.12310	.	0.780783	0.11933	N	0.515534	T	0.37210	0.0995	N	0.11427	0.14	0.09310	N	1	B;B;B	0.24132	0.002;0.098;0.004	B;B;B	0.23716	0.003;0.048;0.009	T	0.19844	-1.0293	10	0.13470	T	0.59	.	2.8511	0.05558	0.3537:0.4192:0.1222:0.1049	.	677;646;677	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	S	646;646;677;677	ENSP00000334476:P646S;ENSP00000417328:P677S;ENSP00000417980:P677S	ENSP00000334476:P646S	P	+	1	0	EHMT1	139792165	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.289000	0.08365	0.106000	0.17784	0.561000	0.74099	CCA		0.602	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		192	968	0	0	0	1	0	192	968				
LBH	81606	broad.mit.edu	37	2	30480460	30480460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30480460G>T	ENST00000395323.3	+	3	499	c.291G>T	c.(289-291)gaG>gaT	p.E97D	LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.E103D|LBH_ENST00000407930.2_Missense_Mutation_p.E80D|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	97					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ACTGCGAAGAGACAGCGAAAG	0.547																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(289-291)gaG>gaT		limb bud and heart development							47.0	49.0	48.0					2																	30480460		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30480460G>T	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.291G>T	2.37:g.30480460G>T	ENSP00000378733:p.Glu97Asp					LBH_ENST00000407930.2_Missense_Mutation_p.E80D|LBH_ENST00000401506.1_Missense_Mutation_p.E103D|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000467242.1_3'UTR	p.E97D	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			3	499	+	Acute lymphoblastic leukemia(172;0.155)		97					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.291G>T	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233031	0.39498	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.78	-1.56	0.08532	.	0.611981	0.18007	N	0.154682	T	0.20740	0.0499	N	0.19112	0.55	0.28153	N	0.929308	B	0.02656	0.0	B	0.04013	0.001	T	0.06935	-1.0799	9	0.42905	T	0.14	-9.1529	3.5822	0.07958	0.2088:0.4269:0.2568:0.1075	.	97	Q53QV2	LBH_HUMAN	D	97;103;80	.	ENSP00000378733:E97D	E	+	3	2	LBH	30333964	0.726000	0.28059	0.909000	0.35828	0.947000	0.59692	-0.144000	0.10280	-0.194000	0.10399	0.549000	0.68633	GAG		0.547	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		36	217	1	0	2.09667e-21	1	2.36065e-21	36	217				
SNAP91	9892	broad.mit.edu	37	6	84269857	84269857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84269857G>T	ENST00000439399.2	-	28	2913	c.2597C>A	c.(2596-2598)cCc>cAc	p.P866H	SNAP91_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000428679.2_Missense_Mutation_p.P866H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000521485.1_Missense_Mutation_p.P861H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	866	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCCAAAGGGGGGCCTCATCAT	0.517																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2596-2598)cCc>cAc		synaptosomal-associated protein, 91kDa							69.0	70.0	70.0					6																	84269857		1957	4149	6106	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84269857G>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2597C>A	6.37:g.84269857G>T	ENSP00000400459:p.Pro866His					SNAP91_ENST00000521485.1_Missense_Mutation_p.P861H|SNAP91_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000439399.2_Missense_Mutation_p.P866H|SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H	p.P866H			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	28	3190	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	866			Pro-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2597C>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632886	0.87660	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.39406	1.37;1.36;1.36;1.37;1.36;1.67;1.36;1.36;1.67;1.08	5.75	5.75	0.90469	.	0.098291	0.64402	D	0.000001	T	0.63331	0.2502	M	0.79123	2.44	0.39244	D	0.963901	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.996;0.996;0.996	T	0.66775	-0.5838	10	0.87932	D	0	-11.0891	19.9525	0.97208	0.0:0.0:1.0:0.0	.	742;559;836;866;864	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	H	861;866;866;861;866;559;836;866;559;207	ENSP00000429776:P861H;ENSP00000358708:P866H;ENSP00000400459:P866H;ENSP00000195649:P861H;ENSP00000412492:P866H;ENSP00000413277:P559H;ENSP00000428511:P836H;ENSP00000428215:P866H;ENSP00000428026:P559H;ENSP00000430255:P207H	ENSP00000195649:P861H	P	-	2	0	SNAP91	84326576	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.900000	0.87376	2.719000	0.93026	0.655000	0.94253	CCC		0.517	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			9	355	1	0	2.17888e-05	1	2.22852e-05	9	355				
ZRANB2	9406	broad.mit.edu	37	1	71536592	71536592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71536592G>A	ENST00000370920.3	-	7	902	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	201	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GAGCGACTTCGTCTATTAGAT	0.408																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(601-603)Cga>Tga		zinc finger, RAN-binding domain containing 2							224.0	212.0	216.0					1																	71536592		2203	4300	6503	SO:0001587	stop_gained	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71536592G>A	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.601C>T	1.37:g.71536592G>A	ENSP00000359958:p.Arg201*					ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	p.R201*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			7	902	-			201			Arg/Ser-rich.|Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Nonsense_Mutation	SNP	ENST00000370920.3	37	c.601C>T	CCDS659.1	.	.	.	.	.	.	.	.	.	.	G	38	7.206621	0.98136	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	.	.	.	5.76	3.75	0.43078	.	0.189634	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.2861	0.66247	0.0:0.0:0.6251:0.3749	.	.	.	.	X	201	.	ENSP00000254821:R201X	R	-	1	2	ZRANB2	71309180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.443000	0.52907	1.531000	0.49152	0.650000	0.86243	CGA		0.408	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		50	427	0	0	0	1	0	50	427				
DPYS	1807	broad.mit.edu	37	8	105459595	105459595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105459595G>A	ENST00000351513.2	-	3	692	c.560C>T	c.(559-561)gCa>gTa	p.A187V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	187					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGGCAATTGCTCCAATTTC	0.448																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(559-561)gCa>gTa		dihydropyrimidinase							120.0	111.0	114.0					8																	105459595		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105459595G>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.560C>T	8.37:g.105459595G>A	ENSP00000276651:p.Ala187Val						p.A187V	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	692	-			187						Missense_Mutation	SNP	ENST00000351513.2	37	c.560C>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583454	0.96578	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.90844	-2.74;-2.65	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.050856	0.85682	D	0.000000	D	0.95140	0.8425	M	0.76727	2.345	0.58432	D	0.999998	D	0.67145	0.996	D	0.64877	0.93	D	0.94741	0.7919	10	0.72032	D	0.01	-23.932	20.547	0.99278	0.0:0.0:1.0:0.0	.	187	Q14117	DPYS_HUMAN	V	187;134	ENSP00000276651:A187V;ENSP00000430246:A134V	ENSP00000276651:A187V	A	-	2	0	DPYS	105528771	1.000000	0.71417	0.933000	0.37362	0.954000	0.61252	9.476000	0.97823	2.850000	0.98022	0.650000	0.86243	GCA		0.448	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		62	261	0	0	0	1	0	62	261				
KL	9365	broad.mit.edu	37	13	33591381	33591381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33591381C>T	ENST00000380099.3	+	1	811	c.803C>T	c.(802-804)gCg>gTg	p.A268V	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	268	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTGGTGGCGCACAACCTC	0.716																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(802-804)gCg>gTg		klotho							6.0	6.0	6.0					13																	33591381		2021	4022	6043	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591381C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.803C>T	13.37:g.33591381C>T	ENSP00000369442:p.Ala268Val					KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	p.A268V	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	811	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	268			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.803C>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976631	0.74360	.	.	ENSG00000133116	ENST00000380099	T	0.32023	1.47	4.55	4.55	0.56014	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.059433	0.64402	D	0.000004	T	0.49898	0.1584	L	0.59912	1.85	0.46564	D	0.999102	D	0.89917	1.0	D	0.72982	0.979	T	0.51419	-0.8708	10	0.72032	D	0.01	-19.0702	13.2771	0.60194	0.0:0.8408:0.1592:0.0	.	268	Q9UEF7	KLOT_HUMAN	V	268	ENSP00000369442:A268V	ENSP00000369442:A268V	A	+	2	0	KL	32489381	0.937000	0.31787	1.000000	0.80357	0.998000	0.95712	1.725000	0.38074	2.357000	0.79964	0.563000	0.77884	GCG		0.716	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			11	55	0	0	0	1	0	11	55				
SLC5A9	200010	broad.mit.edu	37	1	48705156	48705156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48705156G>A	ENST00000438567.2	+	12	1676	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SLC5A9_ENST00000236495.5_Missense_Mutation_p.A567T|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	542					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGGGCTCACTGCCATCGTCAT	0.567																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(1699-1701)Gcc>Acc		solute carrier family 5 (sodium/sugar cotransporter), member 9							267.0	230.0	242.0					1																	48705156		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48705156G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1624G>A	1.37:g.48705156G>A	ENSP00000401730:p.Ala542Thr					SLC5A9_ENST00000438567.2_Missense_Mutation_p.A542T|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T	p.A567T	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			13	1749	+			542					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.1699G>A	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886502	0.33348	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	T;T;T	0.79554	-1.28;-1.28;-1.28	5.3	3.4	0.38934	.	0.589185	0.19332	N	0.116873	T	0.65386	0.2686	N	0.20685	0.6	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.50508	-0.8820	10	0.22109	T	0.4	.	10.7877	0.46415	0.2142:0.0:0.7858:0.0	.	563;542;567	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	T	563;542;567	ENSP00000431900:A563T;ENSP00000401730:A542T;ENSP00000236495:A567T	ENSP00000236495:A567T	A	+	1	0	SLC5A9	48477743	0.001000	0.12720	0.762000	0.31397	0.942000	0.58702	0.943000	0.29030	1.458000	0.47871	0.650000	0.86243	GCC		0.567	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		81	671	0	0	0	1	0	81	671				
LBR	3930	broad.mit.edu	37	1	225591097	225591097	+	Missense_Mutation	SNP	G	G	A	rs199675363		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:225591097G>A	ENST00000338179.2	-	14	1881	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_ENST00000272163.4_Missense_Mutation_p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	586					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TACTCGTCACGAGCTTCTCGG	0.403																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1756-1758)Cgt>Tgt		lamin B receptor							98.0	96.0	97.0					1																	225591097		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225591097G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1756C>T	1.37:g.225591097G>A	ENSP00000339883:p.Arg586Cys					LBR_ENST00000272163.4_Missense_Mutation_p.R586C	p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	14	1881	-	Breast(184;0.165)		586					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1756C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760754	0.89932	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.99259	-5.64;-5.64	6.16	6.16	0.99307	Sterol reductase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97704	1.0186	10	0.87932	D	0	-21.4596	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	586	Q14739	LBR_HUMAN	C	586	ENSP00000272163:R586C;ENSP00000339883:R586C	ENSP00000272163:R586C	R	-	1	0	LBR	223657720	1.000000	0.71417	0.263000	0.24496	0.792000	0.44763	7.718000	0.84743	2.937000	0.99478	0.650000	0.86243	CGT		0.403	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		96	284	0	0	0	1	0	96	284				
GABBR2	9568	broad.mit.edu	37	9	101340265	101340265	+	Silent	SNP	G	G	A	rs56067237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101340265G>A	ENST00000259455.2	-	2	870	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	137					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGGATGTGACGGATGGACAGA	0.512																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(409-411)tcC>tcT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)			0,4406		0,0,2203	210.0	195.0	200.0		411	-9.2	0.6	9	dbSNP_129	200	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GABBR2	NM_005458.7		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		137/942	101340265	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101340265G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.411C>T	9.37:g.101340265G>A							p.S137S	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			2	870	-		Acute lymphoblastic leukemia(62;0.0527)	137					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.411C>T	CCDS6736.1																																																																																				0.512	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			53	245	0	0	0	1	0	53	245				
E2F5	1875	broad.mit.edu	37	8	86121474	86121474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121474C>A	ENST00000416274.2	+	6	747	c.713C>A	c.(712-714)cCc>cAc	p.P238H	E2F5_ENST00000521429.1_Missense_Mutation_p.P65H|E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.P238H|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	238					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCATCTAAGCCCGTGGTTTTT	0.453																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(712-714)cCc>cAc		E2F transcription factor 5, p130-binding							140.0	139.0	139.0					8																	86121474		1967	4146	6113	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86121474C>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.713C>A	8.37:g.86121474C>A	ENSP00000398124:p.Pro238His					E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.P65H|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H|E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000416274.2_Missense_Mutation_p.P238H	p.P238H			Q15329	E2F5_HUMAN			6	909	+			238					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.713C>A	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460149	0.84317	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	6.13	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.99	D	0.95449	0.8532	10	0.59425	D	0.04	-17.471	17.581	0.87968	0.0:0.8765:0.1234:0.0	.	65;238;238	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	H	238;239;238;77;65;74	ENSP00000414312:P238H;ENSP00000256117:P239H;ENSP00000398124:P238H;ENSP00000429120:P77H;ENSP00000428606:P65H;ENSP00000429669:P74H	ENSP00000256117:P239H	P	+	2	0	E2F5	86308726	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.483000	0.81158	1.601000	0.50113	0.650000	0.86243	CCC		0.453	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		39	246	1	0	5.43694e-19	1	6.05247e-19	39	246				
MED1	5469	broad.mit.edu	37	17	37584042	37584042	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37584042A>G	ENST00000394287.3	-	10	856	c.651T>C	c.(649-651)ggT>ggC	p.G217G	MED1_ENST00000300651.6_Splice_Site_p.G217G			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATTAAATGACCTATAAAAA	0.303										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.e10-1		mediator complex subunit 1							73.0	74.0	74.0					17																	37584042		2203	4300	6503	SO:0001630	splice_region_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37584042A>G	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.650-1T>C	17.37:g.37584042A>G		HNSCC(31;0.082)				MED1_ENST00000394287.3_Splice_Site_p.G217_splice	p.G217_splice	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	10	874	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	217			Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Splice_Site	SNP	ENST00000394287.3	37	c.649_splice																																																																																					0.303	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774	Silent	19	93	0	0	0	1	0	19	93				
POLR2E	5434	broad.mit.edu	37	19	1093977	1093977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1093977G>A	ENST00000215587.7	-	2	441	c.158C>T	c.(157-159)cCg>cTg	p.P53L	POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L|POLR2E_ENST00000585838.1_5'Flank			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	53					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCGCCGCGGCCGCCCCTC	0.642																																						ENST00000215587.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11						c.(157-159)cCg>cTg		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							42.0	36.0	38.0					19																	1093977		2202	4300	6502	SO:0001583	missense	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1093977G>A		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.158C>T	19.37:g.1093977G>A	ENSP00000215587:p.Pro53Leu					POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L	p.P53L			P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	441	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	53					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.158C>T	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466162	0.84425	.	.	ENSG00000099817	ENST00000215587	T	0.43688	0.94	3.64	3.64	0.41730	RNA polymerase, Rpb5, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.78285	2.405	0.80722	D	1	D	0.63880	0.993	P	0.58210	0.835	T	0.62148	-0.6915	10	0.36615	T	0.2	-7.8213	14.4829	0.67594	0.0:0.0:1.0:0.0	.	53	P19388	RPAB1_HUMAN	L	53	ENSP00000215587:P53L	ENSP00000215587:P53L	P	-	2	0	POLR2E	1044977	1.000000	0.71417	0.934000	0.37439	0.915000	0.54546	6.883000	0.75595	1.884000	0.54569	0.511000	0.50034	CCG		0.642	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		37	182	0	0	0	1	0	37	182				
PREX1	57580	broad.mit.edu	37	20	47269916	47269916	+	Missense_Mutation	SNP	G	G	A	rs371398821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47269916G>A	ENST00000371941.3	-	20	2351	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	PREX1_ENST00000396220.1_Missense_Mutation_p.R777W	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	777					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTTCGCGCCGACTCCGGAAT	0.582																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2329-2331)Cgg>Tgg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	86.0	85.0		2329	3.0	0.2	20		85	0,8600		0,0,4300	no	missense	PREX1	NM_020820.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	777/1660	47269916	1,13005	2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47269916G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2329C>T	20.37:g.47269916G>A	ENSP00000361009:p.Arg777Trp					PREX1_ENST00000371941.3_Missense_Mutation_p.R777W	p.R777W			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		20	2351	-			777					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2329C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709441	0.48517	2.27E-4	0.0	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38560	1.13;1.13	5.12	2.95	0.34219	PDZ/DHR/GLGF (1);	1.252740	0.06178	U	0.678964	T	0.49609	0.1567	L	0.42245	1.32	0.22142	N	0.999336	P;D	0.63046	0.918;0.992	B;P	0.52710	0.368;0.707	T	0.46735	-0.9170	10	0.87932	D	0	.	11.6856	0.51483	0.0:0.0:0.6956:0.3044	.	777;74	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	777	ENSP00000361009:R777W;ENSP00000379522:R777W	ENSP00000361009:R777W	R	-	1	2	PREX1	46703323	0.578000	0.26717	0.188000	0.23233	0.355000	0.29361	1.778000	0.38614	2.386000	0.81285	0.462000	0.41574	CGG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		129	617	0	0	0	1	0	129	617				
COL6A2	1292	broad.mit.edu	37	21	47538546	47538546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47538546G>T	ENST00000300527.4	+	13	1239	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	379	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGCCGCCCAGGACGCAGAGG	0.682																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1135-1137)Gga>Tga		collagen, type VI, alpha 2							26.0	30.0	28.0					21																	47538546		2199	4295	6494	SO:0001587	stop_gained	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47538546G>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1135G>T	21.37:g.47538546G>T	ENSP00000300527:p.Gly379*					COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*|COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*	p.G379*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	13	1239	+	Breast(49;0.245)		379			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Nonsense_Mutation	SNP	ENST00000300527.4	37	c.1135G>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	39	7.405156	0.98262	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.3025	16.6052	0.84826	0.0:0.0:1.0:0.0	.	.	.	.	X	379	.	ENSP00000300527:G379X	G	+	1	0	COL6A2	46362974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.715000	0.84713	2.151000	0.67156	0.591000	0.81541	GGA		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			29	117	1	0	3.11337e-16	1	3.41587e-16	29	117				
C11orf88	399949	broad.mit.edu	37	11	111385713	111385713	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111385713G>T	ENST00000375618.4	+	1	204	c.204G>T	c.(202-204)cgG>cgT	p.R68R	MIR34B_ENST00000385076.1_RNA|BTG4_ENST00000356018.2_5'Flank|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000529167.1_Silent_p.R68R|C11orf88_ENST00000332814.6_Silent_p.R68R|BTG4_ENST00000525791.1_5'Flank	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529167.1																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.(202-204)cgG>cgT		chromosome 11 open reading frame 88							36.0	42.0	40.0					11																	111385713		2152	4277	6429	SO:0001819	synonymous_variant	399949							g.chr11:111385713G>T	BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.204G>T	11.37:g.111385713G>T			OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1434	RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Silent_p.R68R|C11orf88_ENST00000332814.6_Silent_p.R68R	p.R68R			Q6PI97	CK088_HUMAN			1	204	+			68					E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	37	c.204G>T	CCDS41713.1																																																																																				0.602	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388		46	210	1	0	2.17126e-26	1	2.5019e-26	46	210				
TBRG4	9238	broad.mit.edu	37	7	45148815	45148815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45148815G>A	ENST00000258770.3	-	2	143	c.22C>T	c.(22-24)Cga>Tga	p.R8*	TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*|TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	8					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CACGTGCATCGCTTTACCAGG	0.557																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(22-24)Cga>Tga		transforming growth factor beta regulator 4							48.0	45.0	46.0					7																	45148815		2203	4300	6503	SO:0001587	stop_gained	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45148815G>A	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.22C>T	7.37:g.45148815G>A	ENSP00000258770:p.Arg8*					TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*	p.R8*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			2	143	-			8					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Nonsense_Mutation	SNP	ENST00000258770.3	37	c.22C>T	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618423	0.96649	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000475893;ENST00000482285;ENST00000495078	.	.	.	4.91	4.01	0.46588	.	0.884037	0.09884	N	0.743253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9389	0.64043	0.0:0.1533:0.8467:0.0	.	.	.	.	X	8	.	ENSP00000258770:R8X	R	-	1	2	TBRG4	45115340	0.033000	0.19621	0.926000	0.36857	0.857000	0.48899	1.641000	0.37197	1.241000	0.43820	0.655000	0.94253	CGA		0.557	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		31	314	0	0	0	1	0	31	314				
PICALM	8301	broad.mit.edu	37	11	85685823	85685823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85685823C>T	ENST00000393346.3	-	19	2020	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000526033.1_Silent_p.T617T|PICALM_ENST00000528398.1_Silent_p.T523T|PICALM_ENST00000356360.5_Silent_p.T604T			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	624					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AGGTTGGTTGCGTCATTACAG	0.403			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1849-1851)acG>acA		phosphatidylinositol binding clathrin assembly protein							245.0	204.0	218.0					11																	85685823		2203	4299	6502	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85685823C>T	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1872G>A	11.37:g.85685823C>T						PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000528398.1_Silent_p.T523T|PICALM_ENST00000356360.5_Silent_p.T604T|PICALM_ENST00000393346.3_Silent_p.T624T	p.T617T	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			19	2167	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	624					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.1851G>A	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.172|5.172	0.217324|0.217324	0.09810|0.09810	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961|ENST00000530692	.|.	.|.	.|.	5.87|5.87	2.28|2.28	0.28536|0.28536	.|.	.|.	.|.	.|.	.|.	T|T	0.55065|0.55065	0.1897|0.1897	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44065|0.44065	-0.9352|-0.9352	4|4	.|.	.|.	.|.	-10.1482|-10.1482	7.1284|7.1284	0.25486|0.25486	0.0:0.1316:0.2245:0.6439|0.0:0.1316:0.2245:0.6439	.|.	.|.	.|.	.|.	T|H	280;106;236|161	.|.	.|.	A|R	-|-	1|2	0|0	PICALM|PICALM	85363471|85363471	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.547000|0.547000	0.35210|0.35210	0.264000|0.264000	0.18497|0.18497	0.197000|0.197000	0.20387|0.20387	-2.283000|-2.283000	0.00269|0.00269	GCA|CGC		0.403	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		17	459	0	0	0	1	0	17	459				
ZNF607	84775	broad.mit.edu	37	19	38190380	38190380	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38190380A>G	ENST00000355202.4	-	5	1247	c.652T>C	c.(652-654)Ttt>Ctt	p.F218L	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCATAATGAAATCTATGATGT	0.423																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(652-654)Ttt>Ctt		zinc finger protein 607							106.0	105.0	105.0					19																	38190380		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190380A>G	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.652T>C	19.37:g.38190380A>G	ENSP00000347338:p.Phe218Leu					ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L|CTD-2528L19.4_ENST00000586606.2_Intron	p.F218L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1247	-			218					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.652T>C	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355955	0.41700	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.17370	2.28;2.28	1.91	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.04355	-0.22	0.09310	N	0.999999	B;B	0.16603	0.002;0.018	B;B	0.10450	0.005;0.002	T	0.33240	-0.9876	9	0.54805	T	0.06	.	3.1323	0.06428	0.2608:0.0:0.1952:0.544	.	218;217	Q96SK3;F5H141	ZN607_HUMAN;.	L	218;217	ENSP00000347338:F218L;ENSP00000438015:F217L	ENSP00000347338:F218L	F	-	1	0	ZNF607	42882220	0.000000	0.05858	0.244000	0.24202	0.343000	0.28985	0.283000	0.18846	-0.034000	0.13713	0.459000	0.35465	TTT		0.423	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		101	414	0	0	0	1	0	101	414				
PTPRG	5793	broad.mit.edu	37	3	61989075	61989075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:61989075C>T	ENST00000474889.1	+	4	800	c.423C>T	c.(421-423)ggC>ggT	p.G141G	PTPRG_ENST00000295874.10_Silent_p.G141G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	141	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCTACCTGGCAGATTCAAAG	0.478																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(421-423)ggC>ggT		protein tyrosine phosphatase, receptor type, G							107.0	104.0	105.0					3																	61989075		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61989075C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.423C>T	3.37:g.61989075C>T						PTPRG_ENST00000295874.10_Silent_p.G141G	p.G141G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	4	800	+			141			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.423C>T	CCDS2895.1																																																																																				0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		89	343	0	0	0	1	0	89	343				
TAAR5	9038	broad.mit.edu	37	6	132910426	132910426	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132910426A>C	ENST00000258034.2	-	1	451	c.400T>G	c.(400-402)Tgt>Ggt	p.C134G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	134					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGATGGCACAGTGGCGGTCA	0.577																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(400-402)Tgt>Ggt		trace amine associated receptor 5							99.0	106.0	104.0					6																	132910426		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910426A>C	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.400T>G	6.37:g.132910426A>C	ENSP00000258034:p.Cys134Gly						p.C134G	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	451	-	Breast(56;0.112)		134					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.400T>G	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	A	6.745	0.506179	0.12883	.	.	ENSG00000135569	ENST00000258034	T	0.37411	1.2	5.58	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.076401	0.56097	D	0.000036	T	0.25606	0.0623	L	0.58583	1.82	0.20307	N	0.999915	P	0.38978	0.652	P	0.47915	0.561	T	0.10109	-1.0644	10	0.41790	T	0.15	-3.3848	10.982	0.47499	0.6456:0.0:0.0:0.3544	.	134	O14804	TAAR5_HUMAN	G	134	ENSP00000258034:C134G	ENSP00000258034:C134G	C	-	1	0	TAAR5	132952119	0.000000	0.05858	0.988000	0.46212	0.987000	0.75469	0.001000	0.13038	0.506000	0.28125	0.533000	0.62120	TGT		0.577	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		12	400	0	0	0	1	0	12	400				
GRAP2	9402	broad.mit.edu	37	22	40367084	40367084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367084G>A	ENST00000344138.4	+	8	1252	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRAP2_ENST00000544756.1_Missense_Mutation_p.R258Q|GRAP2_ENST00000407075.3_Missense_Mutation_p.R330Q|GRAP2_ENST00000399090.2_Missense_Mutation_p.R217Q|GRAP2_ENST00000540310.1_Missense_Mutation_p.R264Q|GRAP2_ENST00000543252.1_Missense_Mutation_p.R278Q	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	330	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCATGACCCGATAAACTCTT	0.537																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(988-990)cGa>cAa		GRB2-related adaptor protein 2							62.0	56.0	58.0					22																	40367084		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40367084G>A	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.989G>A	22.37:g.40367084G>A	ENSP00000339186:p.Arg330Gln					GRAP2_ENST00000543252.1_Missense_Mutation_p.R278Q|GRAP2_ENST00000399090.2_Missense_Mutation_p.R217Q|GRAP2_ENST00000540310.1_Missense_Mutation_p.R264Q|GRAP2_ENST00000544756.1_Missense_Mutation_p.R258Q|GRAP2_ENST00000407075.3_Missense_Mutation_p.R330Q	p.R330Q	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			8	1252	+			330			SH3 2.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.989G>A	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090692	0.94149	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;D;T;T;T;T	0.81996	-0.44;-1.56;1.25;0.79;0.24;-0.44	5.43	5.43	0.79202	Src homology-3 domain (2);	0.081776	0.47455	D	0.000230	D	0.88047	0.6332	L	0.46819	1.47	0.38011	D	0.934545	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;0.998	D;P;D;P;P	0.85130	0.994;0.865;0.997;0.886;0.865	D	0.89486	0.3753	10	0.54805	T	0.06	.	15.0078	0.71527	0.0:0.0:0.8487:0.1513	.	217;330;264;304;330	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	Q	330;278;304;264;258;217;330	ENSP00000339186:R330Q;ENSP00000446350:R278Q;ENSP00000444734:R264Q;ENSP00000442195:R258Q;ENSP00000382040:R217Q;ENSP00000385607:R330Q	ENSP00000339186:R330Q	R	+	2	0	GRAP2	38697030	0.953000	0.32496	0.071000	0.20095	0.360000	0.29518	3.679000	0.54634	2.532000	0.85374	0.563000	0.77884	CGA		0.537	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		9	345	0	0	0	1	0	9	345				
AKAP10	11216	broad.mit.edu	37	17	19866323	19866323	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19866323A>G	ENST00000225737.6	-	3	306	c.149T>C	c.(148-150)gTa>gCa	p.V50A	AKAP10_ENST00000395536.3_Missense_Mutation_p.V50A|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	50					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGGGAATGTACGGATATTGA	0.358																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(148-150)gTa>gCa		A kinase (PRKA) anchor protein 10							98.0	94.0	96.0					17																	19866323		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19866323A>G	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.149T>C	17.37:g.19866323A>G	ENSP00000225737:p.Val50Ala					AKAP10_ENST00000395536.3_Missense_Mutation_p.V50A|AKAP10_ENST00000572155.1_5'UTR	p.V50A	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			3	306	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		50					B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.149T>C	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471731	0.26423	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.35421	1.31	5.87	3.66	0.41972	.	0.219160	0.47852	N	0.000203	T	0.30727	0.0774	L	0.51422	1.61	0.23568	N	0.997396	B;B;B	0.34015	0.001;0.435;0.084	B;B;B	0.32762	0.002;0.152;0.03	T	0.14282	-1.0478	10	0.46703	T	0.11	-2.4956	9.4773	0.38880	0.857:0.0:0.143:0.0	.	50;50;50	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	A	50	ENSP00000225737:V50A	ENSP00000225737:V50A	V	-	2	0	AKAP10	19806915	1.000000	0.71417	0.918000	0.36340	0.886000	0.51366	3.067000	0.50010	0.483000	0.27608	-0.361000	0.07541	GTA		0.358	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		75	446	0	0	0	1	0	75	446				
APP	351	broad.mit.edu	37	21	27394204	27394204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27394204C>T	ENST00000346798.3	-	6	850	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000357903.3_Missense_Mutation_p.A273T|APP_ENST00000358918.3_Missense_Mutation_p.A273T|APP_ENST00000359726.3_Missense_Mutation_p.A273T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000474136.1_5'UTR|APP_ENST00000354192.3_Missense_Mutation_p.A217T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000448388.2_Missense_Mutation_p.A238T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	273					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				gtggtggtggcaatgctggtg	0.537																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(817-819)Gcc>Acc		amyloid beta (A4) precursor protein							230.0	156.0	181.0					21																	27394204		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394204C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.817G>A	21.37:g.27394204C>T	ENSP00000284981:p.Ala273Thr					APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000354192.3_Missense_Mutation_p.A217T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000346798.3_Missense_Mutation_p.A273T|APP_ENST00000448388.2_Missense_Mutation_p.A238T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000357903.3_Missense_Mutation_p.A273T|APP_ENST00000359726.3_Missense_Mutation_p.A273T	p.A273T	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1016	-		Breast(209;0.00295)	273					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.817G>A	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.740328|2.740328	0.49045|0.49045	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850;ENST00000415997	T;D;D;T;T;D;D;T;T|.	0.96300|.	1.89;-3.95;-3.95;1.89;1.89;-3.97;-3.95;1.89;1.89|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.304797|.	0.34411|.	N|.	0.003993|.	T|T	0.39118|0.39118	0.1066|0.1066	N|N	0.14661|0.14661	0.345|0.345	0.35957|0.35957	D|D	0.834349|0.834349	D;P;P;P;P;P;P;P|.	0.67145|.	0.996;0.805;0.805;0.805;0.877;0.877;0.877;0.805|.	D;P;P;P;P;P;P;P|.	0.73708|.	0.981;0.483;0.483;0.483;0.682;0.682;0.682;0.483|.	T|T	0.43212|0.43212	-0.9405|-0.9405	10|5	0.30854|.	T|.	0.27|.	-13.2249|-13.2249	11.092|11.092	0.48121|0.48121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;238;217;268;217;273;273;273|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	T|Y	273;217;273;273;273;273;238;268;217|194;63	ENSP00000284981:A273T;ENSP00000346129:A217T;ENSP00000345463:A273T;ENSP00000350578:A273T;ENSP00000351796:A273T;ENSP00000352760:A273T;ENSP00000388538:A238T;ENSP00000387483:A268T;ENSP00000398879:A217T|.	ENSP00000284981:A273T|.	A|C	-|-	1|2	0|0	APP|APP	26316075|26316075	0.979000|0.979000	0.34478|0.34478	0.994000|0.994000	0.49952|0.49952	0.975000|0.975000	0.68041|0.68041	3.226000|3.226000	0.51254|0.51254	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.537	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		23	133	0	0	0	1	0	23	133				
TARBP1	6894	broad.mit.edu	37	1	234586199	234586199	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234586199C>T	ENST00000040877.1	-	10	1835	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	612					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTTAACATACTCTTGAACAA	0.328																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(1834-1836)gaG>gaA		TAR (HIV-1) RNA binding protein 1							79.0	75.0	77.0					1																	234586199		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234586199C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1836G>A	1.37:g.234586199C>T							p.E612E	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		10	1835	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	612					Q9H581	Silent	SNP	ENST00000040877.1	37	c.1836G>A	CCDS1601.1																																																																																				0.328	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		29	210	0	0	0	1	0	29	210				
CHD6	84181	broad.mit.edu	37	20	40081484	40081484	+	Silent	SNP	G	G	A	rs375979334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40081484G>A	ENST00000373233.3	-	21	3396	c.3219C>T	c.(3217-3219)agC>agT	p.S1073S	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1073					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTCTGAGTCGCTGTCTAACT	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19578	0.0		0.0	False		,,,				2504	0.0					ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3217-3219)agC>agT		chromodomain helicase DNA binding protein 6		G		0,4406		0,0,2203	149.0	119.0	129.0		3219	-1.5	1.0	20		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHD6	NM_032221.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1073/2716	40081484	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40081484G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3219C>T	20.37:g.40081484G>A						CHD6_ENST00000309279.7_Intron	p.S1073S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			21	3396	-		Myeloproliferative disorder(115;0.00425)	1073					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.3219C>T	CCDS13317.1																																																																																				0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			10	426	0	0	0	1	0	10	426				
INPP5B	3633	broad.mit.edu	37	1	38341380	38341380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38341380G>A	ENST00000373026.1	-	16	1926	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V	INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Silent_p.V398V|INPP5B_ENST00000373024.3_Silent_p.V562V|INPP5B_ENST00000373023.2_Silent_p.V642V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	642	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTCATTTACGACCCTCACCT	0.483																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(1924-1926)gtC>gtT		inositol polyphosphate-5-phosphatase, 75kDa							84.0	85.0	84.0					1																	38341380		1936	4131	6067	SO:0001819	synonymous_variant	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38341380G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1926C>T	1.37:g.38341380G>A						INPP5B_ENST00000373024.3_Silent_p.V562V|INPP5B_ENST00000373026.1_Silent_p.V642V|INPP5B_ENST00000373027.1_Silent_p.V398V|INPP5B_ENST00000458109.2_3'UTR	p.V642V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			17	2019	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	642					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	37	c.1926C>T																																																																																					0.483	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		6	151	0	0	0	1	0	6	151				
IL12B	3593	broad.mit.edu	37	5	158753736	158753736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158753736G>A	ENST00000231228.2	-	2	510	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	19					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACGAGGGGAGATGCCAGA	0.507																																						ENST00000231228.2																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(55-57)Ccc>Tcc		interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)							90.0	94.0	93.0					5																	158753736		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158753736G>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.55C>T	5.37:g.158753736G>A	ENSP00000231228:p.Pro19Ser						p.P19S	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	510	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	19						Missense_Mutation	SNP	ENST00000231228.2	37	c.55C>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153871	0.57259	.	.	ENSG00000113302	ENST00000231228	T	0.19806	2.12	5.64	5.64	0.86602	Immunoglobulin-like (1);	0.304673	0.35903	N	0.002906	T	0.20820	0.0501	L	0.54323	1.7	0.36907	D	0.890685	B	0.22983	0.078	B	0.22880	0.042	T	0.09271	-1.0682	10	0.08837	T	0.75	-2.4995	15.5804	0.76432	0.0:0.0:1.0:0.0	.	19	P29460	IL12B_HUMAN	S	19	ENSP00000231228:P19S	ENSP00000231228:P19S	P	-	1	0	IL12B	158686314	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.293000	0.51779	2.832000	0.97577	0.655000	0.94253	CCC		0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		46	271	0	0	0	1	0	46	271				
ARRDC1	92714	broad.mit.edu	37	9	140508784	140508784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508784G>A	ENST00000371421.4	+	6	716	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	218						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CTGGATCCACGACGTACGGAC	0.682																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(652-654)Gac>Aac		arrestin domain containing 1							65.0	74.0	71.0					9																	140508784		2202	4299	6501	SO:0001583	missense	92714							g.chr9:140508784G>A	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.652G>A	9.37:g.140508784G>A	ENSP00000360475:p.Asp218Asn					ARRDC1_ENST00000491911.1_3'UTR	p.D218N	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	6	716	+	all_cancers(76;0.106)		218						Missense_Mutation	SNP	ENST00000371421.4	37	c.652G>A	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	19.91	3.915370	0.73098	.	.	ENSG00000197070	ENST00000371421;ENST00000419386	T;T	0.17691	3.29;2.26	5.15	4.25	0.50352	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.75447	2.3	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.28808	-1.0032	10	0.56958	D	0.05	-8.9991	12.5194	0.56050	0.0808:0.0:0.9192:0.0	.	107;218;182	Q59FD7;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	N	218;182	ENSP00000360475:D218N;ENSP00000406833:D182N	ENSP00000360475:D218N	D	+	1	0	ARRDC1	139628605	1.000000	0.71417	0.599000	0.28851	0.570000	0.35934	9.262000	0.95591	1.170000	0.42753	0.555000	0.69702	GAC		0.682	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		150	607	0	0	0	1	0	150	607				
ARHGEF7	8874	broad.mit.edu	37	13	111896285	111896285	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111896285T>C	ENST00000375741.2	+	8	1139	c.889T>C	c.(889-891)Tac>Cac	p.Y297H	ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	297	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTTTCAACGTACCTACGGCC	0.323																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(889-891)Tac>Cac		Rho guanine nucleotide exchange factor (GEF) 7							51.0	51.0	51.0					13																	111896285		2203	4298	6501	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111896285T>C	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.889T>C	13.37:g.111896285T>C	ENSP00000364893:p.Tyr297His					ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H	p.Y297H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		8	1139	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		297			DH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.889T>C	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076914	0.76415	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	4.82	4.82	0.62117	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0	T	0.74216	-0.3737	10	0.87932	D	0	.	14.0484	0.64719	0.0:0.0:0.0:1.0	.	41;194;41;247;297;276	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	H	276;297;247;204;274;119;119;119;119;194;119;41	ENSP00000325994:Y276H;ENSP00000364893:Y297H;ENSP00000364891:Y247H;ENSP00000359657:Y204H;ENSP00000418067:Y119H;ENSP00000218789:Y119H;ENSP00000364888:Y119H;ENSP00000397068:Y119H;ENSP00000364889:Y194H;ENSP00000364875:Y119H;ENSP00000417596:Y41H	ENSP00000218789:Y119H	Y	+	1	0	ARHGEF7	110694286	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	6.585000	0.74062	1.787000	0.52448	0.383000	0.25322	TAC		0.323	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		36	149	0	0	0	1	0	36	149				
AKAP8L	26993	broad.mit.edu	37	19	15511996	15511996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15511996G>A	ENST00000397410.5	-	5	911	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.R200W	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	261						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTCCAGGTCCGCCTCATCTGC	0.652																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(781-783)Cgg>Tgg		A kinase (PRKA) anchor protein 8-like							124.0	138.0	133.0					19																	15511996		1984	4144	6128	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15511996G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.781C>T	19.37:g.15511996G>A	ENSP00000380557:p.Arg261Trp					AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Missense_Mutation_p.R200W	p.R261W	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	845	-			261					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.781C>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357158	0.61293	.	.	ENSG00000011243	ENST00000397410	T	0.49139	0.79	4.74	1.06	0.20224	.	0.205156	0.38959	N	0.001507	T	0.49440	0.1557	L	0.34521	1.04	0.35636	D	0.81061	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.70935	0.898;0.953;0.971;0.898	T	0.54234	-0.8324	10	0.40728	T	0.16	-15.2885	7.3019	0.26426	0.0:0.1389:0.301:0.56	.	200;31;261;261	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	W	261	ENSP00000380557:R261W	ENSP00000380557:R261W	R	-	1	2	AKAP8L	15372996	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.672000	0.37523	0.390000	0.25115	0.491000	0.48974	CGG		0.652	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		270	1040	0	0	0	1	0	270	1040				
CHD6	84181	broad.mit.edu	37	20	40118638	40118638	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40118638T>C	ENST00000373233.3	-	12	1637	c.1460A>G	c.(1459-1461)gAg>gGg	p.E487G	CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	487	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAGGCCCATCTCATCAGCCAA	0.398																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1459-1461)gAg>gGg		chromodomain helicase DNA binding protein 6							118.0	131.0	127.0					20																	40118638		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118638T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1460A>G	20.37:g.40118638T>C	ENSP00000362330:p.Glu487Gly					CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	p.E487G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			12	1637	-		Myeloproliferative disorder(115;0.00425)	487			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1460A>G	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.689115|4.689115	0.88735|0.88735	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.95788|.	-3.81;-3.81|.	5.27|5.27	5.27|5.27	0.74061|0.74061	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.56097|.	D|.	0.000027|.	D|D	0.88897|0.88897	0.6562|0.6562	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.93199|0.93199	0.6590|0.6590	10|5	0.87932|.	D|.	0|.	-25.288|-25.288	15.4838|15.4838	0.75548|0.75548	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	487|.	Q8TD26|.	CHD6_HUMAN|.	G|G	487|190	ENSP00000362330:E487G;ENSP00000308684:E487G|.	ENSP00000308684:E487G|.	E|R	-|-	2|1	0|2	CHD6|CHD6	39552052|39552052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.967000|7.967000	0.87967|0.87967	2.108000|2.108000	0.64289|0.64289	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			28	730	0	0	0	1	0	28	730				
DHX30	22907	broad.mit.edu	37	3	47868868	47868868	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47868868G>T	ENST00000445061.1	+	5	563	c.156G>T	c.(154-156)caG>caT	p.Q52H	DHX30_ENST00000446256.2_Missense_Mutation_p.Q13H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q24H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	52						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTCCCACAGCCCAAAAATC	0.398																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(37-39)caG>caT		DEAH (Asp-Glu-Ala-His) box helicase 30							80.0	79.0	79.0					3																	47868868		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47868868G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.156G>T	3.37:g.47868868G>T	ENSP00000405620:p.Gln52His					DHX30_ENST00000445061.1_Missense_Mutation_p.Q52H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q24H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H	p.Q13H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	6	611	+			52					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.39G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144990	0.37825	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03212	4.03;4.02;4.03;4.01	5.42	3.64	0.41730	.	0.210963	0.40818	N	0.001014	T	0.04003	0.0112	L	0.36672	1.1	0.40277	D	0.978354	B;P;P	0.40032	0.42;0.555;0.699	B;B;B	0.39935	0.119;0.237;0.314	T	0.54642	-0.8263	10	0.37606	T	0.19	.	9.2676	0.37650	0.1633:0.0:0.8367:0.0	.	52;13;80	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	H	13;52;24;80	ENSP00000392601:Q13H;ENSP00000405620:Q52H;ENSP00000343442:Q24H;ENSP00000394682:Q80H	ENSP00000343442:Q24H	Q	+	3	2	DHX30	47843872	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	0.677000	0.31305	-0.136000	0.14681	CAG		0.398	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		31	337	1	0	2.46105e-21	1	2.77029e-21	31	337				
GOLGB1	2804	broad.mit.edu	37	3	121414270	121414270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414270C>T	ENST00000340645.5	-	13	5210	c.5085G>A	c.(5083-5085)gaG>gaA	p.E1695E	GOLGB1_ENST00000393667.3_Silent_p.E1700E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1695					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCCGGTCATTCTCTTCTTCCA	0.438																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5098-5100)gaG>gaA		golgin B1							234.0	236.0	235.0					3																	121414270		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414270C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5085G>A	3.37:g.121414270C>T						GOLGB1_ENST00000340645.5_Silent_p.E1695E	p.E1700E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5210	-			1695					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.5100G>A	CCDS3004.1																																																																																				0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		187	936	0	0	0	1	0	187	936				
ANO8	57719	broad.mit.edu	37	19	17442206	17442206	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17442206C>T	ENST00000159087.4	-	6	759	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	201					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ATCCCACGTGCTGCCAGCTCC	0.602																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(601-603)Gca>Aca		anoctamin 8							59.0	58.0	58.0					19																	17442206		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17442206C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.601G>A	19.37:g.17442206C>T	ENSP00000159087:p.Ala201Thr						p.A201T	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			6	759	-			201					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.601G>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057035	0.76074	.	.	ENSG00000074855	ENST00000159087	T	0.62105	0.05	5.3	5.3	0.74995	.	0.054739	0.64402	D	0.000001	T	0.57946	0.2088	L	0.51422	1.61	0.48236	D	0.999615	B	0.29341	0.242	B	0.31547	0.132	T	0.54036	-0.8353	10	0.22706	T	0.39	.	16.5003	0.84255	0.0:1.0:0.0:0.0	.	201	Q9HCE9	ANO8_HUMAN	T	201	ENSP00000159087:A201T	ENSP00000159087:A201T	A	-	1	0	ANO8	17303206	1.000000	0.71417	0.976000	0.42696	0.216000	0.24613	5.630000	0.67805	2.496000	0.84212	0.306000	0.20318	GCA		0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		17	367	0	0	0	1	0	17	367				
DCST2	127579	broad.mit.edu	37	1	154999185	154999185	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154999185A>G	ENST00000368424.3	-	9	1407	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	450						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGACACCAACACAGGACCTGG	0.502																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1348-1350)gTg>gCg		DC-STAMP domain containing 2							73.0	71.0	71.0					1																	154999185		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154999185A>G	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1349T>C	1.37:g.154999185A>G	ENSP00000357409:p.Val450Ala					DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	p.V450A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		9	1407	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		450					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1349T>C	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	11.04	1.521824	0.27211	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.27720	1.65;1.65	4.82	4.82	0.62117	Dendritic cell-specific transmembrane protein-like (1);	0.089835	0.42821	D	0.000654	T	0.13114	0.0318	L	0.36672	1.1	0.31072	N	0.712902	D	0.57571	0.98	P	0.49752	0.621	T	0.02156	-1.1204	10	0.06236	T	0.91	-27.98	11.9283	0.52833	1.0:0.0:0.0:0.0	.	450	Q5T1A1	DCST2_HUMAN	A	450	ENSP00000357409:V450A;ENSP00000295536:V450A	ENSP00000295536:V450A	V	-	2	0	DCST2	153265809	0.708000	0.27876	0.385000	0.26158	0.919000	0.55068	3.395000	0.52558	1.803000	0.52742	0.402000	0.26972	GTG		0.502	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		41	263	0	0	0	1	0	41	263				
RGL1	23179	broad.mit.edu	37	1	183874037	183874037	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183874037T>G	ENST00000360851.3	+	13	1582	c.1404T>G	c.(1402-1404)taT>taG	p.Y468*	RGL1_ENST00000304685.4_Nonsense_Mutation_p.Y503*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	468	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCAACAGCTATTGCATGACCC	0.448																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(1507-1509)taT>taG		ral guanine nucleotide dissociation stimulator-like 1							129.0	128.0	128.0					1																	183874037		2203	4300	6503	SO:0001587	stop_gained	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183874037T>G	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1404T>G	1.37:g.183874037T>G	ENSP00000354097:p.Tyr468*					RGL1_ENST00000367531.1_Nonsense_Mutation_p.Y503*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000360851.3_Nonsense_Mutation_p.Y468*	p.Y503*	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			14	1970	+			468					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Nonsense_Mutation	SNP	ENST00000360851.3	37	c.1509T>G		.	.	.	.	.	.	.	.	.	.	T	39	7.588588	0.98374	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	.	.	.	5.52	-5.05	0.02955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1163	0.59301	0.0:0.4481:0.0:0.5519	.	.	.	.	X	503;503;466;273;468;439	.	ENSP00000303192:Y503X	Y	+	3	2	RGL1	182140660	0.937000	0.31787	0.475000	0.27278	0.568000	0.35870	0.027000	0.13621	-1.370000	0.02144	-1.140000	0.01884	TAT		0.448	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		170	473	0	0	0	1	0	170	473				
TDG	6996	broad.mit.edu	37	12	104380828	104380828	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104380828A>G	ENST00000392872.3	+	10	1427	c.1193A>G	c.(1192-1194)cAc>cGc	p.H398R	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.H194R|TDG_ENST00000266775.9_Missense_Mutation_p.H394R|TDG_ENST00000544861.1_Missense_Mutation_p.H255R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	398					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTTAGTAATCACTGTGGAACA	0.433								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1192-1194)cAc>cGc	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							145.0	112.0	123.0					12																	104380828		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104380828A>G	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1193A>G	12.37:g.104380828A>G	ENSP00000376611:p.His398Arg					TDG_ENST00000544861.1_Missense_Mutation_p.H255R|TDG_ENST00000266775.9_Missense_Mutation_p.H394R|TDG_ENST00000542036.1_Missense_Mutation_p.H194R	p.H398R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	10	1427	+			398					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.1193A>G	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	A	5.636	0.301987	0.10678	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.21543	2.33;2.33;2.34;2.0	5.86	0.0592	0.14331	.	0.355996	0.22159	N	0.063819	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.22765	-1.0207	10	0.48119	T	0.1	-7.8928	10.9276	0.47199	0.5614:0.3717:0.0669:0.0	.	194;398;398	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	R	398;394;255;194	ENSP00000376611:H398R;ENSP00000266775:H394R;ENSP00000445899:H255R;ENSP00000439054:H194R	ENSP00000266775:H394R	H	+	2	0	TDG	102904958	0.024000	0.19004	0.001000	0.08648	0.166000	0.22503	0.710000	0.25748	0.099000	0.17552	-0.353000	0.07706	CAC		0.433	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			80	426	0	0	0	1	0	80	426				
MYO1C	4641	broad.mit.edu	37	17	1381754	1381754	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381754C>T	ENST00000575158.1	-	11	1316	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	MYO1C_ENST00000359786.5_Silent_p.T415T|MYO1C_ENST00000545534.2_Silent_p.T391T|MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	383	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCGAGAACCGTGGTGCTCC	0.637																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1243-1245)acG>acA		myosin IC							62.0	71.0	68.0					17																	1381754		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381754C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1140G>A	17.37:g.1381754C>T						MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000545534.2_Silent_p.T391T|MYO1C_ENST00000575158.1_Silent_p.T380T	p.T415T	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1569	-			415			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1245G>A	CCDS11003.1																																																																																				0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			79	450	0	0	0	1	0	79	450				
KCNG2	26251	broad.mit.edu	37	18	77659752	77659752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659752G>A	ENST00000316249.3	+	2	1337	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	446					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGCTCGCAGGGCCCCGACAGC	0.761																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1336-1338)gGc>gAc		potassium voltage-gated channel, subfamily G, member 2							7.0	9.0	8.0					18																	77659752		2113	4081	6194	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659752G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1337G>A	18.37:g.77659752G>A	ENSP00000315654:p.Gly446Asp					KCNG2_ENST00000590307.1_3'UTR	p.G446D	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1337	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	446						Missense_Mutation	SNP	ENST00000316249.3	37	c.1337G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	g	5.131	0.209690	0.09757	.	.	ENSG00000178342	ENST00000316249	D	0.97209	-4.29	3.12	-0.94	0.10405	.	681.941000	0.00166	N	0.000002	D	0.90373	0.6987	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83394	0.0019	10	0.35671	T	0.21	.	1.1096	0.01701	0.4624:0.1736:0.2081:0.156	.	446	Q9UJ96	KCNG2_HUMAN	D	446	ENSP00000315654:G446D	ENSP00000315654:G446D	G	+	2	0	KCNG2	75760740	0.756000	0.28383	0.000000	0.03702	0.078000	0.17371	0.318000	0.19504	-0.038000	0.13624	0.187000	0.17357	GGC		0.761	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		28	105	0	0	0	1	0	28	105				
CNTNAP3	79937	broad.mit.edu	37	9	39133078	39133078	+	Missense_Mutation	SNP	C	C	T	rs373851232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133078C>T	ENST00000297668.6	-	13	2004	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	644	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGGGCACCTCGGAGGGTCAC	0.731																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1930-1932)cGa>cAa		contactin associated protein-like 3		C	GLN/ARG	1,2993		0,1,1496	4.0	5.0	5.0		1931	-1.2	0.0	9		5	0,5724		0,0,2862	no	missense	CNTNAP3	NM_033655.3	43	0,1,4358	TT,TC,CC		0.0,0.0334,0.0115	benign	644/1289	39133078	1,8717	1497	2862	4359	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39133078C>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1931G>A	9.37:g.39133078C>T	ENSP00000297668:p.Arg644Gln					CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q	p.R644Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	13	2004	-			644			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1931G>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729312	0.15507	3.34E-4	0.0	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	2.37	-1.18	0.09617	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.04452	0.0122	L	0.28274	0.84	0.09310	N	1	P;B;B;B;B	0.43352	0.804;0.055;0.108;0.259;0.011	B;B;B;B;B	0.25140	0.058;0.011;0.007;0.049;0.003	T	0.40308	-0.9570	9	0.29301	T	0.29	.	5.4154	0.16370	0.0:0.3863:0.0:0.6137	.	550;644;644;643;644	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	Q	644;643;556;550;643	ENSP00000297668:R644Q;ENSP00000366884:R643Q;ENSP00000350863:R556Q;ENSP00000320728:R550Q;ENSP00000366887:R643Q	ENSP00000297668:R644Q	R	-	2	0	CNTNAP3	39123078	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.094000	0.11094	-0.270000	0.09285	0.454000	0.30748	CGA		0.731	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		5	39	0	0	0	1	0	5	39				
ABCB10	23456	broad.mit.edu	37	1	229661725	229661725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229661725C>A	ENST00000344517.4	-	10	1906	c.1864G>T	c.(1864-1866)Ggg>Tgg	p.G622W		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	622	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.			FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438). {ECO:0000305}.	transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GTGTTGAACCCTTGGGGGAAA	0.478																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1864-1866)Ggg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 10							128.0	138.0	135.0					1																	229661725		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229661725C>A	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1864G>T	1.37:g.229661725C>A	ENSP00000355637:p.Gly622Trp						p.G622W	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			10	1906	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	622	FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438).		ABC transporter.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1864G>T	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484617	0.84854	.	.	ENSG00000135776	ENST00000344517	D	0.85955	-2.05	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97938	1.0324	10	0.87932	D	0	-18.8303	18.7182	0.91684	0.0:1.0:0.0:0.0	.	622	Q9NRK6	ABCBA_HUMAN	W	622	ENSP00000355637:G622W	ENSP00000355637:G622W	G	-	1	0	ABCB10	227728348	1.000000	0.71417	0.348000	0.25681	0.799000	0.45148	7.814000	0.86154	2.475000	0.83589	0.591000	0.81541	GGG		0.478	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		110	988	1	0	7.30236e-35	1	8.69941e-35	110	988				
PDILT	204474	broad.mit.edu	37	16	20384360	20384360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20384360C>A	ENST00000302451.4	-	6	1014	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	256					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATCACAAAATCTGTAAGGTGC	0.443																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(766-768)Gat>Tat		protein disulfide isomerase-like, testis expressed							216.0	205.0	208.0					16																	20384360		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20384360C>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.766G>T	16.37:g.20384360C>A	ENSP00000305465:p.Asp256Tyr						p.D256Y	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			6	1014	-			256					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.766G>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728574	0.48833	.	.	ENSG00000169340	ENST00000302451	T	0.30182	1.54	4.91	3.93	0.45458	Thioredoxin-like fold (3);	0.196686	0.52532	D	0.000075	T	0.46870	0.1415	L	0.59436	1.845	0.09310	N	0.999991	D	0.76494	0.999	D	0.65323	0.934	T	0.32214	-0.9915	10	0.72032	D	0.01	.	10.8628	0.46835	0.0:0.8095:0.1905:0.0	.	256	Q8N807	PDILT_HUMAN	Y	256	ENSP00000305465:D256Y	ENSP00000305465:D256Y	D	-	1	0	PDILT	20291861	0.040000	0.19996	0.186000	0.23195	0.862000	0.49288	1.154000	0.31688	1.223000	0.43536	0.563000	0.77884	GAT		0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		134	582	1	0	2.34035e-62	1	2.94954e-62	134	582				
KALRN	8997	broad.mit.edu	37	3	124380766	124380766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124380766G>A	ENST00000291478.5	+	12	1405	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000360013.3_Silent_p.Q2111Q|KALRN_ENST00000393496.1_Silent_p.Q452Q|KALRN_ENST00000459915.1_Silent_p.Q203Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2110					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACGTCTGCAGGGCTTTGAGG	0.507																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6331-6333)caG>caA		kalirin, RhoGEF kinase							177.0	153.0	161.0					3																	124380766		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124380766G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1242G>A	3.37:g.124380766G>A						KALRN_ENST00000291478.4_Silent_p.Q414Q|KALRN_ENST00000459915.1_Silent_p.Q203Q|KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000393496.1_Silent_p.Q452Q	p.Q2111Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			45	6460	+			2110					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.6333G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	5.100	0.204068	0.09704	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.29	2.42	0.29668	.	.	.	.	.	T	0.61502	0.2352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55042	-0.8202	4	.	.	.	.	11.6186	0.51104	0.3065:0.0:0.6935:0.0	.	.	.	.	K	2080	.	.	R	+	2	0	KALRN	125863456	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	2.303000	0.43646	0.072000	0.16694	-1.945000	0.00491	AGG		0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		94	467	0	0	0	1	0	94	467				
SEMA4C	54910	broad.mit.edu	37	2	97527040	97527040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97527040G>T	ENST00000305476.5	-	15	1957	c.1825C>A	c.(1825-1827)Ctc>Atc	p.L609I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	609	Ig-like C2-type.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGGGCCTGGAGCCGGGCATCG	0.692																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1825-1827)Ctc>Atc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							17.0	22.0	21.0					2																	97527040		2199	4290	6489	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527040G>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1825C>A	2.37:g.97527040G>T	ENSP00000306844:p.Leu609Ile						p.L609I	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			15	1957	-			609			Ig-like C2-type.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1825C>A	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498736	0.44455	.	.	ENSG00000168758	ENST00000305476	T	0.04758	3.56	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.150600	0.45606	D	0.000351	T	0.15998	0.0385	L	0.51422	1.61	0.58432	D	0.999996	B;P;D	0.69078	0.382;0.638;0.997	B;B;D	0.72625	0.133;0.212;0.978	T	0.01118	-1.1446	10	0.37606	T	0.19	.	16.5234	0.84322	0.0:0.0:1.0:0.0	.	609;319;150	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	I	609	ENSP00000306844:L609I	ENSP00000306844:L609I	L	-	1	0	SEMA4C	96890767	0.998000	0.40836	0.961000	0.40146	0.964000	0.63967	3.308000	0.51896	2.417000	0.82017	0.561000	0.74099	CTC		0.692	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		17	304	1	0	1.15088e-07	1	1.19614e-07	17	304				
FTMT	94033	broad.mit.edu	37	5	121187676	121187676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187676G>A	ENST00000321339.1	+	1	27	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	6					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGCTTCAGGCTCCTCTCCA	0.697																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(16-18)agG>agA		ferritin mitochondrial							29.0	33.0	32.0					5																	121187676		2201	4296	6497	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187676G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.18G>A	5.37:g.121187676G>A							p.R6R	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	27	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	6						Silent	SNP	ENST00000321339.1	37	c.18G>A	CCDS4128.1																																																																																				0.697	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		85	376	0	0	0	1	0	85	376				
SLC2A8	29988	broad.mit.edu	37	9	130167730	130167730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130167730G>A	ENST00000373371.3	+	9	1271	c.1182G>A	c.(1180-1182)tgG>tgA	p.W394*	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Nonsense_Mutation_p.W131*	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	394					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CCATCCCCTGGCTCCTCATGT	0.627																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1180-1182)tgG>tgA		solute carrier family 2 (facilitated glucose transporter), member 8							78.0	69.0	72.0					9																	130167730		2203	4299	6502	SO:0001587	stop_gained	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130167730G>A	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1182G>A	9.37:g.130167730G>A	ENSP00000362469:p.Trp394*					SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Nonsense_Mutation_p.W131*	p.W394*	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			9	1271	+			394					Q8WUZ9|Q9NSC4	Nonsense_Mutation	SNP	ENST00000373371.3	37	c.1182G>A	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151307	0.94645	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	.	.	.	5.35	5.35	0.76521	.	0.056509	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1845	0.89789	0.0:0.0:1.0:0.0	.	.	.	.	X	394;231;131;233;259;259;233	.	ENSP00000362448:W259X	W	+	3	0	SLC2A8	129207551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.349000	0.97066	2.674000	0.91012	0.655000	0.94253	TGG		0.627	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		7	303	0	0	0	1	0	7	303				
APOE	348	broad.mit.edu	37	19	45412285	45412285	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412285C>T	ENST00000252486.4	+	4	843	c.732C>T	c.(730-732)cgC>cgT	p.R244R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	244	8 X 22 AA approximate tandem repeats.				aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCGGACCCGCGACCGCCTGG	0.746																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(730-732)cgC>cgT		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						5.0	6.0	6.0					19																	45412285		2024	4029	6053	SO:0001819	synonymous_variant	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45412285C>T	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.732C>T	19.37:g.45412285C>T							p.R244R	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	843	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	244			8 X 22 AA approximate tandem repeats.		B2RC15|C0JYY5|Q9P2S4	Silent	SNP	ENST00000252486.4	37	c.732C>T	CCDS12647.1																																																																																				0.746	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		7	35	0	0	0	1	0	7	35				
MYO9A	4649	broad.mit.edu	37	15	72286859	72286859	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72286859C>T	ENST00000356056.5	-	10	2010	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	513	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGATTAATTCGAAAAACTAT	0.338																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1537-1539)cGa>cAa		myosin IXA							111.0	112.0	112.0					15																	72286859		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72286859C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1538G>A	15.37:g.72286859C>T	ENSP00000348349:p.Arg513Gln					RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q	p.R513Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			10	2010	-			513			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1538G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974210	0.92919	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88431	-2.38;-2.38;-2.38	5.14	5.14	0.70334	Myosin head, motor domain (2);	.	.	.	.	D	0.90721	0.7088	L	0.33792	1.035	0.80722	D	1	D;P;D;P	0.71674	0.998;0.867;0.961;0.886	D;B;P;P	0.70716	0.97;0.23;0.688;0.564	D	0.88017	0.2766	9	0.19147	T	0.46	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	494;513;494;513	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	Q	513;513;494;494;513	ENSP00000348349:R513Q;ENSP00000399162:R513Q;ENSP00000398250:R494Q	ENSP00000261864:R494Q	R	-	2	0	MYO9A	70073913	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.275000	0.78548	2.385000	0.81259	0.557000	0.71058	CGA		0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		105	446	0	0	0	1	0	105	446				
SSTR5	6755	broad.mit.edu	37	16	1129417	1129417	+	Silent	SNP	C	C	T	rs375313304	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129417C>T	ENST00000293897.4	+	1	637	c.549C>T	c.(547-549)ggC>ggT	p.G183G	SSTR5_ENST00000562758.1_Silent_p.G183G|SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	183					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGCAGGAGGGCGGTACCTGCA	0.716													C|||	2	0.000399361	0.0015	0.0	5008	,	,		13414	0.0		0.0	False		,,,				2504	0.0					ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(547-549)ggC>ggT		somatostatin receptor 5	Octreotide(DB00104)	C	,	4,4340		0,4,2168	19.0	23.0	22.0		549,549	1.3	1.0	16		22	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,4,6447	TT,TC,CC		0.0,0.0921,0.031	,	183/365,183/365	1129417	4,12898	2172	4279	6451	SO:0001819	synonymous_variant	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129417C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.549C>T	16.37:g.1129417C>T						SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5_ENST00000562758.1_Silent_p.G183G	p.G183G	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	637	+		Hepatocellular(780;0.00369)	183					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.549C>T	CCDS10429.1																																																																																				0.716	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			30	108	0	0	0	1	0	30	108				
LRWD1	222229	broad.mit.edu	37	7	102113476	102113476	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102113476G>A	ENST00000292616.5	+	15	2076	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	642					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACATCGTAGCCATCTGGGG	0.592																																						ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(1924-1926)Gcc>Acc		leucine-rich repeats and WD repeat domain containing 1							107.0	94.0	98.0					7																	102113476		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102113476G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1924G>A	7.37:g.102113476G>A	ENSP00000292616:p.Ala642Thr						p.A642T	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			15	2076	+			642					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.1924G>A	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819219	0.32145	.	.	ENSG00000161036	ENST00000292616	T	0.61274	0.12	5.94	5.04	0.67666	.	0.351640	0.33854	N	0.004491	T	0.48370	0.1496	L	0.50333	1.59	0.32081	N	0.593122	B	0.28605	0.217	B	0.24541	0.054	T	0.53486	-0.8432	10	0.13108	T	0.6	-18.8346	13.5495	0.61723	0.0:0.0:0.8392:0.1608	.	642	Q9UFC0	LRWD1_HUMAN	T	642	ENSP00000292616:A642T	ENSP00000292616:A642T	A	+	1	0	LRWD1	101900481	0.999000	0.42202	0.856000	0.33681	0.631000	0.37964	3.150000	0.50662	1.464000	0.47987	0.561000	0.74099	GCC		0.592	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		62	310	0	0	0	1	0	62	310				
NR1H3	10062	broad.mit.edu	37	11	47281365	47281365	+	Missense_Mutation	SNP	C	C	T	rs139438525		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47281365C>T	ENST00000467728.1	+	2	1305	c.67C>T	c.(67-69)Cca>Tca	p.P23S	NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	23					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCTGTGGAAGCCAGGCGCACA	0.652											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(67-69)Cca>Tca		nuclear receptor subfamily 1, group H, member 3							35.0	36.0	36.0					11																	47281365		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47281365C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.67C>T	11.37:g.47281365C>T	ENSP00000420656:p.Pro23Ser		OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S	p.P23S			Q13133	NR1H3_HUMAN			2	1305	+			23					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.67C>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321402	0.23994	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.66	0.0326	0.14176	.	0.500830	0.18336	N	0.144325	T	0.16685	0.0401	N	0.08118	0	0.27865	N	0.940246	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.08330	-1.0727	10	0.34782	T	0.22	.	2.013	0.03492	0.1397:0.3331:0.344:0.1831	.	29;23;23	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	S	23	ENSP00000403798:P23S;ENSP00000385801:P23S;ENSP00000391005:P23S;ENSP00000413095:P23S;ENSP00000415591:P23S;ENSP00000387946:P23S;ENSP00000396132:P23S;ENSP00000403696:P23S;ENSP00000420656:P23S;ENSP00000384745:P23S	ENSP00000384745:P23S	P	+	1	0	NR1H3	47237941	0.049000	0.20398	0.280000	0.24747	0.467000	0.32768	-0.834000	0.04391	0.027000	0.15297	0.462000	0.41574	CCA		0.652	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			43	244	0	0	0	1	0	43	244				
OR10G9	219870	broad.mit.edu	37	11	123894465	123894465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123894465G>A	ENST00000375024.1	+	1	746	c.746G>A	c.(745-747)tGc>tAc	p.C249Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGGTCCTTTGCTTTTTTGTT	0.532																																						ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(745-747)tGc>tAc		olfactory receptor, family 10, subfamily G, member 9							166.0	147.0	154.0					11																	123894465		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894465G>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.746G>A	11.37:g.123894465G>A	ENSP00000364164:p.Cys249Tyr						p.C249Y	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	746	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	249						Missense_Mutation	SNP	ENST00000375024.1	37	c.746G>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212605	0.39102	.	.	ENSG00000236981	ENST00000375024	T	0.00076	8.76	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00241	0.0007	N	0.22421	0.69	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60627	-0.7226	10	0.87932	D	0	.	9.6678	0.39994	0.0:0.3635:0.6365:0.0	.	249	Q8NGN4	O10G9_HUMAN	Y	249	ENSP00000364164:C249Y	ENSP00000364164:C249Y	C	+	2	0	OR10G9	123399675	0.000000	0.05858	0.970000	0.41538	0.819000	0.46315	0.517000	0.22832	1.884000	0.54569	0.586000	0.80456	TGC		0.532	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		122	492	0	0	0	1	0	122	492				
IPO8	10526	broad.mit.edu	37	12	30806011	30806011	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30806011A>G	ENST00000256079.4	-	18	2302	c.1964T>C	c.(1963-1965)aTt>aCt	p.I655T	IPO8_ENST00000544829.1_Missense_Mutation_p.I450T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	655					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGGAAAGAATTTCTTCATA	0.378																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1963-1965)aTt>aCt		importin 8							49.0	56.0	53.0					12																	30806011		2200	4298	6498	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30806011A>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1964T>C	12.37:g.30806011A>G	ENSP00000256079:p.Ile655Thr					IPO8_ENST00000544829.1_Missense_Mutation_p.I450T	p.I655T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			18	2302	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		655					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1964T>C	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792267	0.31685	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.56941	0.43;0.43	4.78	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.093988	0.64402	N	0.000001	T	0.60064	0.2240	L	0.55103	1.725	0.58432	D	0.999995	B;D;P	0.57257	0.425;0.979;0.895	B;P;P	0.57846	0.3;0.828;0.468	T	0.59506	-0.7442	10	0.52906	T	0.07	-11.0547	10.1644	0.42871	0.9203:0.0:0.0797:0.0	.	450;131;655	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	T	655;131;450	ENSP00000256079:I655T;ENSP00000444520:I450T	ENSP00000256079:I655T	I	-	2	0	IPO8	30697278	1.000000	0.71417	0.987000	0.45799	0.801000	0.45260	8.988000	0.93501	0.790000	0.33803	0.533000	0.62120	ATT		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		59	252	0	0	0	1	0	59	252				
LPAR1	1902	broad.mit.edu	37	9	113704229	113704229	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704229C>T	ENST00000374431.3	-	4	648	c.265G>A	c.(265-267)Gct>Act	p.A89T	LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T|LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T|LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	89					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCCAGATTAGCCATTAGGTAA	0.453																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(265-267)Gct>Act		lysophosphatidic acid receptor 1							99.0	107.0	104.0					9																	113704229		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704229C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.265G>A	9.37:g.113704229C>T	ENSP00000363553:p.Ala89Thr					LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T|LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T	p.A89T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	648	-			89					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.265G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953693	0.92660	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.049120	0.85682	D	0.000000	T	0.79058	0.4382	L	0.39514	1.22	0.80722	D	1	D;D;D	0.67145	0.974;0.996;0.974	D;D;D	0.68621	0.91;0.959;0.91	T	0.81017	-0.1123	10	0.87932	D	0	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	90;90;89	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	T	89;90;89;89;71;90;89	ENSP00000363553:A89T;ENSP00000445697:A90T;ENSP00000363552:A89T;ENSP00000351755:A89T;ENSP00000440201:A90T;ENSP00000401810:A89T	ENSP00000351755:A89T	A	-	1	0	LPAR1	112744050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.783000	0.85696	2.533000	0.85409	0.655000	0.94253	GCT		0.453	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		110	555	0	0	0	1	0	110	555				
PLCD4	84812	broad.mit.edu	37	2	219498467	219498467	+	Missense_Mutation	SNP	G	G	A	rs371174811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219498467G>A	ENST00000450993.2	+	11	1928	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H|PLCD4_ENST00000432688.1_Missense_Mutation_p.R562H|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	530	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGGCCAAGCGCCTCATCAAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		21295	0.0		0.0	False		,,,				2504	0.001					ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1588-1590)cGc>cAc		phospholipase C, delta 4		G	HIS/ARG	0,3796		0,0,1898	55.0	51.0	52.0		1589	1.2	1.0	2		52	2,8240		0,2,4119	no	missense	PLCD4	NM_032726.3	29	0,2,6017	AA,AG,GG		0.0243,0.0,0.0166	possibly-damaging	530/763	219498467	2,12036	1898	4121	6019	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219498467G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1589G>A	2.37:g.219498467G>A	ENSP00000388631:p.Arg530His					PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H|PLCD4_ENST00000432688.1_Missense_Mutation_p.R562H	p.R530H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1928	+		Renal(207;0.0915)	530			PI-PLC Y-box.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.1589G>A	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730324	0.30684	0.0	2.43E-4	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.54279	0.58;0.58;0.58	5.53	1.16	0.20824	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.519476	0.23340	N	0.049252	T	0.46600	0.1401	M	0.62723	1.935	0.25396	N	0.988486	B	0.12013	0.005	B	0.04013	0.001	T	0.46679	-0.9174	10	0.87932	D	0	.	9.4467	0.38701	0.6826:0.0:0.3174:0.0	.	530	Q9BRC7	PLCD4_HUMAN	H	530;530;530;562	ENSP00000388631:R530H;ENSP00000396942:R530H;ENSP00000396185:R562H	ENSP00000251959:R530H	R	+	2	0	PLCD4	219206711	1.000000	0.71417	0.960000	0.40013	0.395000	0.30598	2.229000	0.42990	0.011000	0.14865	0.655000	0.94253	CGC		0.498	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			57	127	0	0	0	1	0	57	127				
BRWD1	54014	broad.mit.edu	37	21	40604155	40604155	+	Missense_Mutation	SNP	T	T	G	rs145677980	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40604155T>G	ENST00000333229.2	-	25	3275	c.2948A>C	c.(2947-2949)aAt>aCt	p.N983T	BRWD1_ENST00000342449.3_Missense_Mutation_p.N983T|BRWD1_ENST00000380800.3_Missense_Mutation_p.N983T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	983					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCATAAATATTATTTCTTCT	0.303																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2947-2949)aAt>aCt		bromodomain and WD repeat domain containing 1							69.0	69.0	69.0					21																	40604155		2202	4297	6499	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40604155T>G	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2948A>C	21.37:g.40604155T>G	ENSP00000330753:p.Asn983Thr					BRWD1_ENST00000380800.3_Missense_Mutation_p.N983T|BRWD1_ENST00000333229.2_Missense_Mutation_p.N983T	p.N983T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			25	3026	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	983					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2948A>C	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181532	0.78677	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56275	0.47;0.5;0.58	5.55	5.55	0.83447	.	0.127274	0.53938	D	0.000057	T	0.56934	0.2019	L	0.50333	1.59	0.80722	D	1	B;D	0.57899	0.337;0.981	B;P	0.49637	0.173;0.617	T	0.58912	-0.7552	10	0.48119	T	0.1	-4.9369	15.6973	0.77509	0.0:0.0:0.0:1.0	.	983;983	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	T	983	ENSP00000330753:N983T;ENSP00000344333:N983T;ENSP00000370178:N983T	ENSP00000330753:N983T	N	-	2	0	BRWD1	39526025	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	4.680000	0.61656	2.110000	0.64415	0.482000	0.46254	AAT		0.303	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		36	139	0	0	0	1	0	36	139				
RGMB	285704	broad.mit.edu	37	5	98129023	98129023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98129023C>T	ENST00000513185.1	+	3	1316	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	RGMB_ENST00000308234.7_Missense_Mutation_p.R335C			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	294					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTTGCCATCCGTATGCCTGA	0.612																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(1003-1005)Cgt>Tgt		repulsive guidance molecule family member b							44.0	46.0	45.0					5																	98129023		2152	4241	6393	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98129023C>T	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.880C>T	5.37:g.98129023C>T	ENSP00000423256:p.Arg294Cys					RGMB_ENST00000513185.1_Missense_Mutation_p.R294C	p.R335C	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1405	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	294					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.1003C>T		.	.	.	.	.	.	.	.	.	.	C	18.24	3.580895	0.65992	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.88818	-2.43;-2.43	5.78	5.78	0.91487	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95388	0.8479	10	0.87932	D	0	-20.8999	19.9851	0.97342	0.0:1.0:0.0:0.0	.	294	Q6NW40	RGMB_HUMAN	C	335;294	ENSP00000308219:R335C;ENSP00000423256:R294C	ENSP00000308219:R335C	R	+	1	0	RGMB	98156923	1.000000	0.71417	0.987000	0.45799	0.080000	0.17528	4.911000	0.63328	2.727000	0.93392	0.655000	0.94253	CGT		0.612	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		28	104	0	0	0	1	0	28	104				
PHF20L1	51105	broad.mit.edu	37	8	133816275	133816275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133816275T>G	ENST00000395386.2	+	7	1018	c.719T>G	c.(718-720)tTt>tGt	p.F240C	PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	240							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGTGAAACATTTGGTACAAAA	0.353																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(718-720)tTt>tGt		PHD finger protein 20-like 1							84.0	70.0	75.0					8																	133816275		2203	4299	6502	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133816275T>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.719T>G	8.37:g.133816275T>G	ENSP00000378784:p.Phe240Cys					PHF20L1_ENST00000395383.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000395374.1_Missense_Mutation_p.F79C|PHF20L1_ENST00000395382.3_Missense_Mutation_p.F110C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C|PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000315808.10_Missense_Mutation_p.F240C|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C|PHF20L1_ENST00000220847.7_5'UTR	p.F240C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		7	1018	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		240					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.719T>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721680	0.68959	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.53423	0.77;0.8;0.76;1.39;0.76;0.82;0.62;1.4	5.44	5.44	0.79542	.	0.355484	0.32836	N	0.005589	T	0.55257	0.1909	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.986	D;D;D;D;P	0.80764	0.976;0.919;0.994;0.965;0.794	T	0.54906	-0.8223	10	0.38643	T	0.18	-2.061	14.6865	0.69052	0.0:0.0:0.0:1.0	.	214;79;240;240;214	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	C	244;240;214;240;240;214;244;110;214;79	ENSP00000378781:F244C;ENSP00000378777:F240C;ENSP00000355301:F214C;ENSP00000378784:F240C;ENSP00000324519:F240C;ENSP00000338269:F214C;ENSP00000378775:F244C;ENSP00000378788:F214C	ENSP00000324519:F240C	F	+	2	0	PHF20L1	133885457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.182000	0.58310	2.073000	0.62155	0.477000	0.44152	TTT		0.353	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		41	177	0	0	0	1	0	41	177				
CHMP1A	5119	broad.mit.edu	37	16	89712424	89712424	+	3'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89712424G>A	ENST00000397901.3	-	0	897				CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000253475.5_Silent_p.G207G|CHMP1A_ENST00000535997.2_3'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A						cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GAGGACAGGAGCCTTCCAGCA	0.677																																						ENST00000253475.5																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(619-621)ggC>ggT		charged multivesicular body protein 1A							43.0	54.0	50.0					16																	89712424		2083	4199	6282	SO:0001624	3_prime_UTR_variant	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89712424G>A	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.*50C>T	16.37:g.89712424G>A						CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	p.G207G	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	6	753	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	0					A2RU09|Q14468|Q15779|Q96G31	Silent	SNP	ENST00000397901.3	37	c.621C>T	CCDS45552.1																																																																																				0.677	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		52	141	0	0	0	1	0	52	141				
SYNPR	132204	broad.mit.edu	37	3	63600932	63600932	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63600932T>C	ENST00000295894.5	+	5	942	c.573T>C	c.(571-573)gcT>gcC	p.A191A	SYNPR_ENST00000478300.1_Silent_p.A211A|SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000460711.1_Silent_p.A202A|SYNPR_ENST00000479198.1_3'UTR	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	191	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTCTCTGGGCTGGAAACATAT	0.398																																					NSCLC(29;1052 1116 20025 32519)	ENST00000478300.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(631-633)gcT>gcC		synaptoporin							44.0	40.0	41.0					3																	63600932		1825	4085	5910	SO:0001819	synonymous_variant	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63600932T>C	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.573T>C	3.37:g.63600932T>C						SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000460711.1_Silent_p.A202A|SYNPR_ENST00000295894.5_Silent_p.A191A	p.A211A	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	6	1044	+			191			5 X approximate repeats.		B2R675|G5E9W4	Silent	SNP	ENST00000295894.5	37	c.633T>C	CCDS46860.1																																																																																				0.398	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			25	99	0	0	0	1	0	25	99				
LRP1	4035	broad.mit.edu	37	12	57578941	57578941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57578941G>A	ENST00000243077.3	+	40	6882	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2139					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGGCATCGGCGTCCAGCTT	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6415-6417)gGc>gAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						68.0	70.0	69.0					12																	57578941		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57578941G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6416G>A	12.37:g.57578941G>A	ENSP00000243077:p.Gly2139Asp						p.G2139D	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	40	6882	+			2139					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6416G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062711	0.76187	.	.	ENSG00000123384	ENST00000243077	D	0.91295	-2.82	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.90321	0.6972	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85181	0.1004	10	0.02654	T	1	.	17.7439	0.88414	0.0:0.0:1.0:0.0	.	2139	Q07954	LRP1_HUMAN	D	2139	ENSP00000243077:G2139D	ENSP00000243077:G2139D	G	+	2	0	LRP1	55865208	1.000000	0.71417	0.222000	0.23844	0.120000	0.20174	9.869000	0.99810	2.489000	0.83994	0.491000	0.48974	GGC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		82	411	0	0	0	1	0	82	411				
CLK3	1198	broad.mit.edu	37	15	74911554	74911554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911554G>A	ENST00000395066.3	+	2	922	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	154					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACTGTAAGCGATACCGCTCC	0.602																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(460-462)cGa>cAa		CDC-like kinase 3							184.0	174.0	177.0					15																	74911554		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74911554G>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.461G>A	15.37:g.74911554G>A	ENSP00000378505:p.Arg154Gln					CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q	p.R154Q	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			2	922	+			154					D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.461G>A	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924401	0.73213	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.55234	0.53;0.77	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000016	T	0.60248	0.2254	L	0.27053	0.805	0.42845	D	0.994061	D;D;D	0.89917	0.997;1.0;0.99	D;D;P	0.78314	0.968;0.991;0.776	T	0.64123	-0.6481	10	0.56958	D	0.05	.	15.4596	0.75342	0.0:0.0:1.0:0.0	.	154;154;6	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	Q	6;6;154;6;6	ENSP00000344112:R6Q;ENSP00000323106:R6Q	ENSP00000344112:R6Q	R	+	2	0	CLK3	72698607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.093000	0.64517	2.405000	0.81733	0.655000	0.94253	CGA		0.602	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			45	883	0	0	0	1	0	45	883				
UXS1	80146	broad.mit.edu	37	2	106781241	106781241	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106781241C>A	ENST00000409501.3	-	3	180		c.e3-1		UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Intron|UXS1_ENST00000283148.7_Missense_Mutation_p.R46M			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1						protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTGGATAGACCTGTTGAGTAG	0.328																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(136-138)aGg>aTg		UDP-glucuronate decarboxylase 1							76.0	74.0	75.0					2																	106781241		1836	4072	5908	SO:0001630	splice_region_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106781241C>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.123-1G>T	2.37:g.106781241C>A						UXS1_ENST00000540130.1_Intron|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000409501.3_Splice_Site	p.R46M	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			3	234	-			41					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.137G>T	CCDS46378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.74|19.74	3.883523|3.883523	0.72410|0.72410	.|.	.|.	ENSG00000115652|ENSG00000115652	ENST00000409501|ENST00000283148	.|D	.|0.96396	.|-4.0	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.94941	.|0.8364	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.36315	.|0.547	.|B	.|0.37346	.|0.247	.|D	.|0.94890	.|0.8047	.|9	.|0.62326	.|D	.|0.03	.|-12.3826	16.61|16.61	0.84880|0.84880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|46	.|Q8NBZ7-2	.|.	.|M	-1|46	.|ENSP00000283148:R46M	.|ENSP00000283148:R46M	.|R	-|-	.|2	.|0	UXS1|UXS1	106147673|106147673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.292000|5.292000	0.65673|0.65673	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	.|AGG		0.328	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	Intron	8	31	1	0	0.000442599	1	0.000448314	8	31				
SPTBN4	57731	broad.mit.edu	37	19	41009865	41009865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41009865C>T	ENST00000352632.3	+	12	1577	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000338932.3_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A|SPTBN4_ENST00000595535.1_Silent_p.A497A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	497					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATTGGCAGCCGAAGGCTACT	0.662																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1489-1491)gcC>gcT		spectrin, beta, non-erythrocytic 4							36.0	38.0	37.0					19																	41009865		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009865C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1491C>T	19.37:g.41009865C>T						SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000595535.1_Silent_p.A497A|SPTBN4_ENST00000338932.3_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A	p.A497A			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1577	+			497					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.1491C>T	CCDS12559.1																																																																																				0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			16	284	0	0	0	1	0	16	284				
LRMP	4033	broad.mit.edu	37	12	25232195	25232195	+	Silent	SNP	C	C	T	rs114104872	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373													C|||	3	0.000599042	0.0	0.0	5008	,	,		19765	0.003		0.0	False		,,,				2504	0.0					ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(40-42)cgC>cgT		lymphoid-restricted membrane protein		C	,,	1,4405	2.1+/-5.4	0,1,2202	288.0	260.0	270.0		42,42,42	0.8	0.0	12	dbSNP_132	270	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LRMP	NM_001204126.1,NM_001204127.1,NM_006152.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	14/500,14/500,14/500	25232195	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25232195C>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.42C>T	12.37:g.25232195C>T						LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			6	871	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		70					A0AVM2|B4E077|Q8N301	Silent	SNP	ENST00000354454.3	37	c.42C>T	CCDS8701.1																																																																																				0.373	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		115	612	0	0	0	1	0	115	612				
PGM3	5238	broad.mit.edu	37	6	83885690	83885690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83885690C>T	ENST00000283977.4	-	8	1002	c.876G>A	c.(874-876)ggG>ggA	p.G292G	PGM3_ENST00000512866.1_Silent_p.G373G|PGM3_ENST00000506587.1_Silent_p.G401G|PGM3_ENST00000513973.1_Silent_p.G373G					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CAGTGCCATGCCCATTTGCTT	0.368																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1117-1119)ggG>ggA		phosphoglucomutase 3							129.0	117.0	121.0					6																	83885690		2203	4300	6503	SO:0001819	synonymous_variant	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83885690C>T	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.876G>A	6.37:g.83885690C>T						PGM3_ENST00000283977.4_Silent_p.G292G|PGM3_ENST00000512866.1_Silent_p.G373G|PGM3_ENST00000506587.1_Silent_p.G401G	p.G373G	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	9	1235	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	373						Silent	SNP	ENST00000283977.4	37	c.1119G>A																																																																																					0.368	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		48	211	0	0	0	1	0	48	211				
DCBLD2	131566	broad.mit.edu	37	3	98568340	98568340	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98568340C>A	ENST00000326840.6	-	3	898	c.536G>T	c.(535-537)gGa>gTa	p.G179V	DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V|DCBLD2_ENST00000469648.1_5'UTR	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	179	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCAAAAATCCGCGTCCAGA	0.353																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(535-537)gGa>gTa		discoidin, CUB and LCCL domain containing 2							126.0	120.0	122.0					3																	98568340		1866	4097	5963	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98568340C>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.536G>T	3.37:g.98568340C>A	ENSP00000321573:p.Gly179Val					DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V|DCBLD2_ENST00000469648.1_5'UTR	p.G179V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			3	898	-			179			CUB.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.536G>T	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386978	0.82902	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857;ENST00000449482	T;T;T	0.35789	1.29;1.29;1.29	5.62	5.62	0.85841	CUB (5);	0.102412	0.64402	D	0.000002	T	0.78104	0.4231	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87734	0.2581	10	0.87932	D	0	-19.3988	17.1542	0.86785	0.0:1.0:0.0:0.0	.	179;179	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	V	179;133;179;73	ENSP00000321573:G179V;ENSP00000321646:G179V;ENSP00000396803:G73V	ENSP00000321573:G179V	G	-	2	0	DCBLD2	100051030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.231000	0.65327	2.648000	0.89879	0.655000	0.94253	GGA		0.353	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		56	260	1	0	7.71302e-15	1	8.39765e-15	56	260				
GNAO1	2775	broad.mit.edu	37	16	56385326	56385326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56385326G>A	ENST00000262493.6	+	7	1600	c.754G>A	c.(754-756)Gac>Aac	p.D252N	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	252					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.D252N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATGCTCTTCGACTCCATCTG	0.507																																						ENST00000262493.6																			1	Substitution - Missense(1)	p.D252N(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(754-756)Gac>Aac		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							154.0	128.0	137.0					16																	56385326		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56385326G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.754G>A	16.37:g.56385326G>A	ENSP00000262493:p.Asp252Asn						p.D252N	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN			7	1600	+		all_neural(199;0.159)	252					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.754G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850265	0.91277	.	.	ENSG00000087258	ENST00000262493	D	0.88586	-2.4	5.91	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.76328	2.33	0.80722	D	1	D	0.56746	0.977	P	0.52454	0.699	D	0.90947	0.4802	10	0.33940	T	0.23	.	17.2009	0.86906	0.0:0.126:0.874:0.0	.	252	P09471	GNAO_HUMAN	N	252	ENSP00000262493:D252N	ENSP00000262493:D252N	D	+	1	0	GNAO1	54942827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	1.493000	0.48517	0.462000	0.41574	GAC		0.507	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		30	199	0	0	0	1	0	30	199				
ZNF787	126208	broad.mit.edu	37	19	56600023	56600023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600023C>T	ENST00000270459.3	-	3	636	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTGAGGCCGCTGTGCGAGCG	0.716																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(517-519)aGc>aAc		zinc finger protein 787							8.0	9.0	9.0					19																	56600023		2167	4267	6434	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600023C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.518G>A	19.37:g.56600023C>T	ENSP00000270459:p.Ser173Asn						p.S173N	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	636	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	173					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.518G>A	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037559	0.93630	.	.	ENSG00000142409	ENST00000270459	T	0.19394	2.15	3.75	2.66	0.31614	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16811	0.0404	L	0.39245	1.2	0.80722	D	1	P	0.49447	0.924	B	0.40134	0.32	T	0.03240	-1.1057	9	0.72032	D	0.01	-27.8195	9.9398	0.41574	0.0:0.5935:0.4065:0.0	.	173	Q6DD87	ZN787_HUMAN	N	173	ENSP00000270459:S173N	ENSP00000270459:S173N	S	-	2	0	ZNF787	61291835	0.001000	0.12720	0.999000	0.59377	0.958000	0.62258	-0.311000	0.08124	0.865000	0.35603	0.556000	0.70494	AGC		0.716	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		9	53	0	0	0	1	0	9	53				
REEP1	65055	broad.mit.edu	37	2	86459903	86459903	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86459903C>A	ENST00000165698.5	-	6	583	c.440G>T	c.(439-441)aGa>aTa	p.R147I	REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000538924.1_Missense_Mutation_p.R154I|REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	147					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCGCAGTCTCTCCGATAA	0.667																																						ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(439-441)aGa>aTa		receptor accessory protein 1							42.0	36.0	38.0					2																	86459903		2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459903C>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.440G>T	2.37:g.86459903C>A	ENSP00000165698:p.Arg147Ile					REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I|REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000538924.1_Missense_Mutation_p.R154I|REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y	p.R147I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			6	583	-			147					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.440G>T	CCDS1989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765722|4.765722	0.90020|0.90020	.|.	.|.	ENSG00000068615|ENSG00000068615	ENST00000541910;ENST00000437769|ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231;ENST00000428491	D;D|D;D;D;D;D;D	0.93604|0.88664	-3.25;-3.22|-2.39;-2.41;-1.56;-1.56;-2.38;-1.67	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.045059	.|0.85682	.|D	.|0.000000	D|D	0.91895|0.91895	0.7434|0.7434	M|M	0.61703|0.61703	1.905|1.905	0.54753|0.54753	D|D	0.999988|0.999988	D|P;D;P	0.61080|0.52996	0.989|0.928;0.957;0.928	P|P;P;P	0.55667|0.56960	0.781|0.65;0.81;0.753	D|D	0.89980|0.89980	0.4100|0.4100	9|10	0.87932|0.32370	D|T	0|0.25	.|.	17.0395|17.0395	0.86484|0.86484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69|120;126;147	B7Z4D7|B7Z5R9;F5H7Z9;Q9H902	.|.;.;REEP1_HUMAN	Y|I	69|147;154;120;126;154;120	ENSP00000442681:D69Y;ENSP00000401140:D69Y|ENSP00000165698:R147I;ENSP00000438346:R154I;ENSP00000437567:R120I;ENSP00000443831:R126I;ENSP00000392197:R154I;ENSP00000400607:R120I	ENSP00000401140:D69Y|ENSP00000165698:R147I	D|R	-|-	1|2	0|0	REEP1|REEP1	86313414|86313414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.875000|3.875000	0.56108|0.56108	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.667	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		60	160	1	0	2.22609e-26	1	2.56449e-26	60	160				
OR4D6	219983	broad.mit.edu	37	11	59225177	59225177	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59225177T>A	ENST00000300127.2	+	1	767	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGGTGACTCTTCACTTCG	0.552																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(742-744)acT>acA		olfactory receptor, family 4, subfamily D, member 6							119.0	108.0	112.0					11																	59225177		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225177T>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.744T>A	11.37:g.59225177T>A							p.T248T	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	767	+			248					B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.744T>A	CCDS31562.1																																																																																				0.552	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		16	442	0	0	0	1	0	16	442				
VKORC1	79001	broad.mit.edu	37	16	31104728	31104728	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104728A>G	ENST00000394975.2	-	2	415	c.188T>C	c.(187-189)tTc>tCc	p.F63S	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S|VKORC1_ENST00000319788.7_Missense_Mutation_p.F63S|VKORC1_ENST00000498155.1_Silent_p.F95F|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000394971.3_Silent_p.F94F|VKORC1_ENST00000300851.6_Silent_p.F83F	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	63					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CACCAGCCCGAAACCCCTGCC	0.557																																						ENST00000319788.7																			0				lung(3)|urinary_tract(1)	4						c.(187-189)tTc>tCc		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						101.0	77.0	85.0					16																	31104728		2197	4300	6497	SO:0001583	missense	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31104728A>G		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.188T>C	16.37:g.31104728A>G	ENSP00000378426:p.Phe63Ser					VKORC1_ENST00000394975.2_Missense_Mutation_p.F63S|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S|VKORC1_ENST00000498155.1_Silent_p.F95F|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Silent_p.F83F|VKORC1_ENST00000394971.3_Silent_p.F94F	p.F63S			Q9BQB6	VKOR1_HUMAN			2	398	-			63					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.188T>C	CCDS10703.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743712	0.89663	.	.	ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000319788;ENST00000394975;ENST00000529564	D;D;D	0.98717	-5.09;-5.09;-5.09	6.08	6.08	0.98989	Vitamin K epoxide reductase (2);	0.000000	0.64402	D	0.000002	D	0.99162	0.9710	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99556	1.0967	10	0.87932	D	0	-42.7049	15.6264	0.76863	1.0:0.0:0.0:0.0	.	63;63	Q9BQB6-2;Q9BQB6	.;VKOR1_HUMAN	S	63	ENSP00000326135:F63S;ENSP00000378426:F63S;ENSP00000431371:F63S	ENSP00000431371:F63S	F	-	2	0	RP11-196G11.1;VKORC1	31012229	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	7.469000	0.80959	2.333000	0.79357	0.533000	0.62120	TTC		0.557	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		53	247	0	0	0	1	0	53	247				
FANCM	57697	broad.mit.edu	37	14	45658561	45658561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45658561A>C	ENST00000267430.5	+	20	5421	c.5336A>C	c.(5335-5337)cAg>cCg	p.Q1779P	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1753P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1779	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCAGTTCCACAGAAGGTATGG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5335-5337)cAg>cCg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							71.0	74.0	73.0					14																	45658561		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658561A>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5336A>C	14.37:g.45658561A>C	ENSP00000267430:p.Gln1779Pro					FANCM_ENST00000542564.2_Missense_Mutation_p.Q1753P	p.Q1779P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			20	5421	+			1779			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5336A>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714759	0.15306	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18960	2.78;2.77;2.18	5.28	-0.183	0.13284	.	2.779230	0.01115	N	0.005661	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17018	-1.0383	10	0.30078	T	0.28	.	3.3885	0.07281	0.2996:0.1744:0.0:0.526	.	1753;1779	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	P	1779;1753;1295	ENSP00000267430:Q1779P;ENSP00000442493:Q1753P;ENSP00000452033:Q1295P	ENSP00000267430:Q1779P	Q	+	2	0	FANCM	44728311	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.677000	0.05215	0.088000	0.17205	-1.328000	0.01277	CAG		0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		16	401	0	0	0	1	0	16	401				
CD2	914	broad.mit.edu	37	1	117297274	117297274	+	Missense_Mutation	SNP	C	C	T	rs369310866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297274C>T	ENST00000369478.3	+	2	191	c.83C>T	c.(82-84)aCg>aTg	p.T28M	CD2_ENST00000369477.1_Missense_Mutation_p.T28M	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	28	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAAGAGATTACGAATGCCTTG	0.413																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(82-84)aCg>aTg		CD2 molecule	Alefacept(DB00092)	C	MET/THR	0,4406		0,0,2203	107.0	107.0	107.0		83	-5.3	0.0	1		107	2,8598	2.2+/-6.3	0,2,4298	no	missense	CD2	NM_001767.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	28/352	117297274	2,13004	2203	4300	6503	SO:0001583	missense	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297274C>T	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.83C>T	1.37:g.117297274C>T	ENSP00000358490:p.Thr28Met					CD2_ENST00000369477.1_Missense_Mutation_p.T28M	p.T28M	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	2	191	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	28			Ig-like V-type.		Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	c.83C>T	CCDS889.1	.	.	.	.	.	.	.	.	.	.	C	3.750	-0.051838	0.07362	0.0	2.33E-4	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.82803	-1.65	2.63	-5.27	0.02763	.	6.445950	0.00357	N	0.000022	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B;B	0.25441	0.0;0.126;0.0	B;B;B	0.19148	0.0;0.024;0.0	T	0.35773	-0.9775	10	0.46703	T	0.11	2.157	1.0468	0.01571	0.2041:0.1478:0.3584:0.2897	.	28;28;28	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	M	28	ENSP00000358490:T28M	ENSP00000358489:T28M	T	+	2	0	CD2	117098797	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.474000	0.00228	-2.418000	0.00566	-0.941000	0.02677	ACG		0.413	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		57	463	0	0	0	1	0	57	463				
ZNF646	9726	broad.mit.edu	37	16	31088351	31088351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31088351G>A	ENST00000394979.2	+	1	1129	c.706G>A	c.(706-708)Gag>Aag	p.E236K	ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K			O15015	ZN646_HUMAN	zinc finger protein 646	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCTGAGGAGGAGCGGCGGTA	0.597																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(706-708)Gag>Aag		zinc finger protein 646							53.0	53.0	53.0					16																	31088351		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088351G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.706G>A	16.37:g.31088351G>A	ENSP00000378429:p.Glu236Lys					ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K	p.E236K			O15015	ZN646_HUMAN			1	1129	+			236					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.706G>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.065241	0.76187	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979;ENST00000439353	T;T;T	0.34859	2.92;1.34;1.34	5.6	5.6	0.85130	.	.	.	.	.	T	0.51890	0.1701	L	0.34521	1.04	0.37802	D	0.927732	D	0.76494	0.999	D	0.85130	0.997	T	0.57306	-0.7834	9	0.87932	D	0	-19.1463	18.3906	0.90481	0.0:0.0:1.0:0.0	.	236	O15015-2	.	K	236;236;236;1	ENSP00000391271:E236K;ENSP00000300850:E236K;ENSP00000378429:E236K	ENSP00000300850:E236K	E	+	1	0	ZNF646	30995852	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.892000	0.56235	2.640000	0.89533	0.655000	0.94253	GAG		0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		65	215	0	0	0	1	0	65	215				
EPHA8	2046	broad.mit.edu	37	1	22924291	22924291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22924291G>A	ENST00000166244.3	+	11	2125	c.2053G>A	c.(2053-2055)Gcg>Acg	p.A685T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGAGCGAGGCGTCCATCAT	0.662																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2053-2055)Gcg>Acg		EPH receptor A8							88.0	90.0	89.0					1																	22924291		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924291G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2053G>A	1.37:g.22924291G>A	ENSP00000166244:p.Ala685Thr						p.A685T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2125	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	685			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2053G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916304	0.92249	.	.	ENSG00000070886	ENST00000166244	T	0.63913	-0.07	4.56	4.56	0.56223	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84792	0.0779	10	0.87932	D	0	.	16.0699	0.80919	0.0:0.0:1.0:0.0	.	685	P29322	EPHA8_HUMAN	T	685	ENSP00000166244:A685T	ENSP00000166244:A685T	A	+	1	0	EPHA8	22796878	1.000000	0.71417	0.989000	0.46669	0.675000	0.39556	9.657000	0.98554	2.365000	0.80145	0.462000	0.41574	GCG		0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		116	455	0	0	0	1	0	116	455				
SELP	6403	broad.mit.edu	37	1	169578832	169578832	+	Missense_Mutation	SNP	G	G	A	rs199507095		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169578832G>A	ENST00000263686.6	-	8	1280	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	415	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCAGCACAGCGGAAGCTACAG	0.517																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1243-1245)Cgc>Tgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						133.0	111.0	119.0					1																	169578832		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578832G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1243C>T	1.37:g.169578832G>A	ENSP00000263686:p.Arg415Cys					SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron	p.R415C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			8	1280	-	all_hematologic(923;0.208)		415			Sushi 4.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1243C>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276591|2.276591	0.40294|0.40294	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.74|5.74	3.86|3.86	0.44501|0.44501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.827990	.|0.02349	.|N	.|0.075696	T|T	0.71230|0.71230	0.3315|0.3315	M|M	0.83774|0.83774	2.66|2.66	0.44500|0.44500	D|D	0.997442|0.997442	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|D;P;P	.|0.63192	.|0.912;0.901;0.799	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.44086	.|T	.|0.13	-0.2348|-0.2348	8.3896|8.3896	0.32520|0.32520	0.0784:0.0:0.7683:0.1533|0.0784:0.0:0.7683:0.1533	.|.	.|415;415;415	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	L|C	352|415;414;353;415;415;353;353;353;353;353;338	.|ENSP00000263686:R415C;ENSP00000356767:R353C;ENSP00000356768:R353C;ENSP00000356766:R353C;ENSP00000356762:R353C;ENSP00000356760:R353C	.|ENSP00000263686:R415C	P|R	-|-	2|1	0|0	SELP|SELP	167845456|167845456	0.000000|0.000000	0.05858|0.05858	0.543000|0.543000	0.28128|0.28128	0.023000|0.023000	0.10783|0.10783	-0.246000|-0.246000	0.08878|0.08878	0.764000|0.764000	0.33197|0.33197	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.517	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		46	245	0	0	0	1	0	46	245				
ZBTB11	27107	broad.mit.edu	37	3	101373562	101373562	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101373562G>T	ENST00000312938.4	-	8	2875	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACAATGATAGCCTCGAACCT	0.353																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2293-2295)ggC>ggA		zinc finger and BTB domain containing 11							122.0	123.0	122.0					3																	101373562		2203	4300	6503	SO:0001819	synonymous_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101373562G>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2295C>A	3.37:g.101373562G>T							p.G765G	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			8	2875	-			765					Q2NKP9	Silent	SNP	ENST00000312938.4	37	c.2295C>A	CCDS2943.1																																																																																				0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		82	422	1	0	1.06222e-33	1	1.26008e-33	82	422				
WDR49	151790	broad.mit.edu	37	3	167246892	167246892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167246892C>T	ENST00000308378.3	-	10	1603	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	433										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTAAGGTATCGATTCATCTT	0.343																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1297-1299)cGa>cAa		WD repeat domain 49							96.0	92.0	93.0					3																	167246892		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167246892C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1298G>A	3.37:g.167246892C>T	ENSP00000311343:p.Arg433Gln					WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000479765.1_Intron	p.R433Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			10	1603	-			433					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1298G>A	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.267|0.267	-0.995346|-0.995346	0.02145|0.02145	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600;ENST00000493061|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.41400	.|1.55;1.29;1.0	5.52|5.52	-3.01|-3.01	0.05463|0.05463	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|1.026120	.|0.07712	.|N	.|0.942286	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.16201|0.16201	0.385|0.385	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B	.|0.18166	.|0.026;0.005	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.35748|0.35748	-0.9776|-0.9776	5|10	.|0.02654	.|T	.|1	.|.	13.1587|13.1587	0.59533|0.59533	0.0:0.2771:0.0:0.7229|0.0:0.2771:0.0:0.7229	.|.	.|497;433	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	N|Q	509;71|433;258;497	.|ENSP00000311343:R433Q;ENSP00000420508:R258Q;ENSP00000410863:R497Q	.|ENSP00000311343:R433Q	D|R	-|-	1|2	0|0	WDR49|WDR49	168729586|168729586	0.671000|0.671000	0.27521|0.27521	0.106000|0.106000	0.21319|0.21319	0.317000|0.317000	0.28152|0.28152	-0.169000|-0.169000	0.09911|0.09911	-0.473000|-0.473000	0.06871|0.06871	-0.253000|-0.253000	0.11424|0.11424	GAT|CGA		0.343	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		54	224	0	0	0	1	0	54	224				
IGSF9B	22997	broad.mit.edu	37	11	133790610	133790610	+	Missense_Mutation	SNP	C	C	T	rs371141922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790610C>T	ENST00000321016.8	-	18	3240	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E1004K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1004	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGGGCCCCTCGGTGGGCAGG	0.677																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3010-3012)Gag>Aag		immunoglobulin superfamily, member 9B			LYS/GLU	0,4100		0,0,2050	35.0	40.0	38.0		3010	4.9	0.9	11		38	1,8361		0,1,4180	no	missense	IGSF9B	NM_014987.1	56	0,1,6230	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	1004/1350	133790610	1,12461	2050	4181	6231	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790610C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3010G>A	11.37:g.133790610C>T	ENSP00000317980:p.Glu1004Lys					IGSF9B_ENST00000533871.2_Missense_Mutation_p.E1004K	p.E1004K			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3240	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1004			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3010G>A		.	.	.	.	.	.	.	.	.	.	c	25.2	4.611619	0.87258	0.0	1.2E-4	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.74526	-0.55;-0.85	4.93	4.93	0.64822	.	0.000000	0.45126	D	0.000395	T	0.65396	0.2687	L	0.27053	0.805	0.42717	D	0.993663	D	0.56968	0.978	B	0.41894	0.369	T	0.72360	-0.4317	10	0.59425	D	0.04	.	17.7942	0.88565	0.0:1.0:0.0:0.0	.	1004	Q9UPX0	TUTLB_HUMAN	K	1004;846	ENSP00000317980:E1004K;ENSP00000436552:E846K	ENSP00000317980:E1004K	E	-	1	0	IGSF9B	133295820	1.000000	0.71417	0.930000	0.37139	0.951000	0.60555	7.350000	0.79385	2.286000	0.76751	0.550000	0.68814	GAG		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		59	267	0	0	0	1	0	59	267				
PRPS1L1	221823	broad.mit.edu	37	7	18066654	18066654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18066654C>A	ENST00000506618.2	-	1	832	c.752G>T	c.(751-753)gGa>gTa	p.G251V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	251					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGAAAAGATTCCATGAGTCAA	0.458																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(751-753)gGa>gTa		phosphoribosyl pyrophosphate synthetase 1-like 1							103.0	103.0	103.0					7																	18066654		2200	4300	6500	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066654C>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.752G>T	7.37:g.18066654C>A	ENSP00000424595:p.Gly251Val						p.G251V	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	832	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		251					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.752G>T	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757981	0.49468	.	.	ENSG00000229937	ENST00000506618	D	0.82893	-1.66	4.44	4.44	0.53790	.	.	.	.	.	D	0.94696	0.8289	H	0.98754	4.32	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.96343	0.9252	8	0.66056	D	0.02	.	14.9557	0.71110	0.0:1.0:0.0:0.0	.	251	P21108	PRPS3_HUMAN	V	251	ENSP00000424595:G251V	ENSP00000424595:G251V	G	-	2	0	PRPS1L1	18033179	1.000000	0.71417	0.845000	0.33349	0.246000	0.25737	7.115000	0.77110	2.482000	0.83794	0.650000	0.86243	GGA		0.458	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		82	405	1	0	2.47556e-37	1	2.97223e-37	82	405				
PRDM16	63976	broad.mit.edu	37	1	3301745	3301745	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3301745C>T	ENST00000270722.5	+	4	517	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000378398.3_Silent_p.F156F|PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000442529.2_Silent_p.F156F|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	156	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTGAGAAGTTCTGCGTGGATG	0.597			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(466-468)ttC>ttT		PR domain containing 16							88.0	99.0	95.0					1																	3301745		2156	4282	6438	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3301745C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.468C>T	1.37:g.3301745C>T						PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000442529.2_Silent_p.F156F|PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000270722.5_Silent_p.F156F	p.F156F			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	4	550	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	156			SET.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.468C>T	CCDS41236.2																																																																																				0.597	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		105	456	0	0	0	1	0	105	456				
LRRTM3	347731	broad.mit.edu	37	10	68686880	68686880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686880G>A	ENST00000361320.4	+	2	784	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	69					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTGTCCCTTCGCTATAACAGC	0.398																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(205-207)cGc>cAc		leucine rich repeat transmembrane neuronal 3							109.0	114.0	113.0					10																	68686880		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686880G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.206G>A	10.37:g.68686880G>A	ENSP00000355187:p.Arg69His					CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	p.R69H	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	784	+			69					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.206G>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621851	0.66787	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.58797	0.31	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	T	0.65270	0.2675	N	0.21240	0.645	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.978;1.0	T	0.64859	-0.6308	10	0.39692	T	0.17	.	18.2412	0.89968	0.0:0.0:1.0:0.0	.	69;69	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	69	ENSP00000355187:R69H	ENSP00000355187:R69H	R	+	2	0	LRRTM3	68356886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.613000	0.88420	0.655000	0.94253	CGC		0.398	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		94	367	0	0	0	1	0	94	367				
GRM5	2915	broad.mit.edu	37	11	88386453	88386453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88386453G>A	ENST00000305447.4	-	3	1179	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	GRM5_ENST00000305432.5_Missense_Mutation_p.L344F|GRM5_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000455756.2_Missense_Mutation_p.L344F|GRM5_ENST00000418177.2_Missense_Mutation_p.L344F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	344					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCTGGCCGGAGCTTCAGATAA	0.458																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1030-1032)Ctc>Ttc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						94.0	95.0	95.0					11																	88386453		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386453G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1030C>T	11.37:g.88386453G>A	ENSP00000306138:p.Leu344Phe					GRM5_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000305432.5_Missense_Mutation_p.L344F|GRM5_ENST00000305447.4_Missense_Mutation_p.L344F|GRM5_ENST00000455756.2_Missense_Mutation_p.L344F	p.L344F			P41594	GRM5_HUMAN			4	1397	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	344					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1030C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078044	0.94000	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93388	0.6749	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	344;344	P41594-2;P41594	.;GRM5_HUMAN	F	344	ENSP00000402912:L344F;ENSP00000405690:L344F;ENSP00000305905:L344F;ENSP00000306138:L344F;ENSP00000376975:L344F	.	L	-	1	0	GRM5	88026101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	CTC		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		65	304	0	0	0	1	0	65	304				
SETD4	54093	broad.mit.edu	37	21	37420647	37420647	+	Silent	SNP	C	C	T	rs200791231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37420647C>T	ENST00000399215.1	-	4	1627	c.255G>A	c.(253-255)acG>acA	p.T85T	SETD4_ENST00000399207.1_Silent_p.T85T|SETD4_ENST00000399205.1_Silent_p.T61T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T			Q9NVD3	SETD4_HUMAN	SET domain containing 4	85	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCACTGTGTCCGTGGTGAGCA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		16075	0.0		0.0	False		,,,				2504	0.001					ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(253-255)acG>acA		SET domain containing 4							373.0	309.0	331.0					21																	37420647		2203	4300	6503	SO:0001819	synonymous_variant	54093							g.chr21:37420647C>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.255G>A	21.37:g.37420647C>T						SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399207.1_Silent_p.T85T|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000399205.1_Silent_p.T61T	p.T85T			Q9NVD3	SETD4_HUMAN			4	1627	-			85			SET.		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	37	c.255G>A	CCDS13640.1																																																																																				0.478	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		124	1088	0	0	0	1	0	124	1088				
CDC42BPA	8476	broad.mit.edu	37	1	227210999	227210999	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227210999G>T	ENST00000366769.3	-	31	5766	c.4475C>A	c.(4474-4476)aCc>aAc	p.T1492N	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATCTAATGGTCTCCAACCC	0.274																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(4474-4476)aCc>aAc		CDC42 binding protein kinase alpha (DMPK-like)							46.0	47.0	46.0					1																	227210999		2192	4289	6481	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227210999G>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4475C>A	1.37:g.227210999G>T	ENSP00000355731:p.Thr1492Asn					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N	p.T1492N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			31	5766	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1505			CNH.			Missense_Mutation	SNP	ENST00000366769.3	37	c.4475C>A	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.864684|3.864684	0.71949|0.71949	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.66460	.|-0.17;-0.17;-0.18;-0.18;-0.21;-0.18;-0.16	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77046|0.77046	0.4073|0.4073	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;P;P;D	.|0.89917	.|1.0;0.981;0.984;0.683;0.999;0.868;0.793;1.0	.|D;P;P;B;D;B;B;D	.|0.85130	.|0.997;0.74;0.67;0.402;0.986;0.284;0.284;0.997	T|T	0.71094|0.71094	-0.4692|-0.4692	5|10	.|0.21540	.|T	.|0.41	.|.	19.3466|19.3466	0.94365|0.94365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1472;1464;807;389;1411;1492;1527;694	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	E|N	694;820;389;716|1492;1411;1492;1527;1464;807;1472;1505	.|ENSP00000355731:T1492N;ENSP00000355729:T1411N;ENSP00000335341:T1492N;ENSP00000355728:T1527N;ENSP00000355726:T1464N;ENSP00000443275:T1472N;ENSP00000355727:T1505N	.|ENSP00000335341:T1492N	D|T	-|-	3|2	2|0	CDC42BPA|CDC42BPA	225277622|225277622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.845000|8.845000	0.92153|0.92153	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAC|ACC		0.274	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		14	112	1	0	2.31682e-05	1	2.36778e-05	14	112				
KIAA1551	55196	broad.mit.edu	37	12	32133908	32133908	+	Missense_Mutation	SNP	C	C	T	rs150927474	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32133908C>T	ENST00000312561.4	+	4	433	c.19C>T	c.(19-21)Cca>Tca	p.P7S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	7																	GAATGAAAAACCAAAGAGTGC	0.368																																						ENST00000312561.4																			0											c.(19-21)Cca>Tca		KIAA1551							84.0	74.0	78.0					12																	32133908		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32133908C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.19C>T	12.37:g.32133908C>T	ENSP00000310338:p.Pro7Ser					KIAA1551_ENST00000535596.1_Intron	p.P7S	NM_018169.3	NP_060639.3					4	433	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.19C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214232	0.58452	.	.	ENSG00000174718	ENST00000540924;ENST00000312561;ENST00000381054	T;T;T	0.22134	2.87;1.97;1.97	5.19	4.3	0.51218	.	0.381540	0.22476	N	0.059557	T	0.19046	0.0457	L	0.29908	0.895	0.09310	N	1	P	0.40731	0.728	B	0.42245	0.381	T	0.06625	-1.0816	10	0.66056	D	0.02	.	11.9815	0.53123	0.0:0.9179:0.0:0.0821	.	7	Q9HCM1	CL035_HUMAN	S	7	ENSP00000445152:P7S;ENSP00000310338:P7S;ENSP00000370442:P7S	ENSP00000310338:P7S	P	+	1	0	C12orf35	32025175	0.897000	0.30589	0.008000	0.14137	0.014000	0.08584	1.686000	0.37669	1.172000	0.42781	0.655000	0.94253	CCA		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		55	294	0	0	0	1	0	55	294				
EMR1	2015	broad.mit.edu	37	19	6926546	6926546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6926546G>A	ENST00000312053.4	+	16	2193	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	EMR1_ENST00000381407.5_Missense_Mutation_p.G578E|EMR1_ENST00000450315.3_Missense_Mutation_p.G542E|EMR1_ENST00000250572.8_Missense_Mutation_p.G654E|EMR1_ENST00000381404.4_Missense_Mutation_p.G667E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	719					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTTGGTTATGGGCTGCCGATG	0.512																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(2155-2157)gGg>gAg		egf-like module containing, mucin-like, hormone receptor-like 1							196.0	161.0	173.0					19																	6926546		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6926546G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2156G>A	19.37:g.6926546G>A	ENSP00000311545:p.Gly719Glu					EMR1_ENST00000381404.4_Missense_Mutation_p.G667E|EMR1_ENST00000450315.3_Missense_Mutation_p.G542E|EMR1_ENST00000381407.5_Missense_Mutation_p.G578E|EMR1_ENST00000250572.8_Missense_Mutation_p.G654E	p.G719E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			16	2193	+	all_hematologic(4;0.166)		719					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.2156G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	g	14.20	2.463643	0.43736	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	4.18	4.18	0.49190	GPCR, family 2-like (1);	.	.	.	.	D	0.85775	0.5775	H	0.97564	4.03	0.32988	D	0.524519	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.992;0.999;1.0;1.0;0.999	D	0.91904	0.5534	9	0.66056	D	0.02	.	13.9966	0.64407	0.0:0.0:1.0:0.0	.	542;578;654;667;719	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	E	654;719;667;654;578;542	ENSP00000311545:G719E;ENSP00000370811:G667E;ENSP00000250572:G654E;ENSP00000370814:G578E;ENSP00000405974:G542E	ENSP00000250572:G654E	G	+	2	0	EMR1	6877546	1.000000	0.71417	0.042000	0.18584	0.145000	0.21501	5.639000	0.67868	1.866000	0.54105	0.585000	0.79938	GGG		0.512	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			9	521	0	0	0	1	0	9	521				
ACVRL1	94	broad.mit.edu	37	12	52309191	52309191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52309191G>A	ENST00000388922.4	+	7	1238	c.955G>A	c.(955-957)Ggt>Agt	p.G319S	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G145S|ACVRL1_ENST00000550683.1_Missense_Mutation_p.G333S	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGATCTTCGGTACACAGGG	0.617																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(997-999)Ggt>Agt		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						49.0	45.0	47.0					12																	52309191		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309191G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.955G>A	12.37:g.52309191G>A	ENSP00000373574:p.Gly319Ser					ACVRL1_ENST00000388922.4_Missense_Mutation_p.G319S|ACVRL1_ENST00000419526.2_Missense_Mutation_p.G145S	p.G333S	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	6	1098	+			319		S -> I (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).	Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.997G>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436485	0.83885	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93247	-3.19;-3.19;-3.19	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000327	D	0.96648	0.8906	M	0.84511	2.7	0.58432	D	0.999993	D;D	0.64830	0.984;0.994	D;D	0.63113	0.911;0.911	D	0.96101	0.9069	10	0.46703	T	0.11	.	18.6856	0.91562	0.0:0.0:1.0:0.0	.	145;319	E7EN07;P37023	.;ACVL1_HUMAN	S	319;319;333;145;145	ENSP00000373574:G319S;ENSP00000447884:G333S;ENSP00000392492:G145S	ENSP00000267008:G319S	G	+	1	0	ACVRL1	50595458	0.999000	0.42202	0.969000	0.41365	0.921000	0.55340	3.458000	0.53014	2.826000	0.97356	0.563000	0.77884	GGT		0.617	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			53	207	0	0	0	1	0	53	207				
AGAP11	119385	broad.mit.edu	37	10	88769136	88769136	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88769136G>A	ENST00000444431.1	+	0	3736				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CTTGGCACCCGCCTTTCCCGT	0.522																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							170.0	190.0	183.0					10																	88769136		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769136G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769136G>A						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3736	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.522	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		271	1181	0	0	0	1	0	271	1181				
AHNAK	79026	broad.mit.edu	37	11	62291895	62291895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291895G>T	ENST00000378024.4	-	5	10268	c.9994C>A	c.(9994-9996)Cca>Aca	p.P3332T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3332					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGGCCCTTTATA	0.418																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9994-9996)Cca>Aca		AHNAK nucleoprotein							52.0	49.0	50.0					11																	62291895		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291895G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9994C>A	11.37:g.62291895G>T	ENSP00000367263:p.Pro3332Thr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P3332T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10268	-		Melanoma(852;0.155)	3332					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9994C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734589	0.30774	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.37	4.37	0.52481	.	.	.	.	.	T	0.37265	0.0997	H	0.96720	3.87	0.30628	N	0.757809	D	0.89917	1.0	D	0.85130	0.997	T	0.56038	-0.8045	9	0.66056	D	0.02	.	12.4383	0.55612	0.0:0.1695:0.8305:0.0	.	3332	Q09666	AHNK_HUMAN	T	3332	ENSP00000367263:P3332T	ENSP00000367263:P3332T	P	-	1	0	AHNAK	62048471	1.000000	0.71417	0.983000	0.44433	0.383000	0.30230	7.257000	0.78362	1.975000	0.57531	0.305000	0.20034	CCA		0.418	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		54	196	1	0	1.07234e-20	1	1.20343e-20	54	196				
SLC12A3	6559	broad.mit.edu	37	16	56926867	56926867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56926867G>T	ENST00000563236.1	+	21	2447	c.2422G>T	c.(2422-2424)Gac>Tac	p.D808Y	SLC12A3_ENST00000438926.2_Missense_Mutation_p.D817Y|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	808					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTGCAGTGGACCCCAAGGC	0.642																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2449-2451)Gac>Tac		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						73.0	53.0	60.0					16																	56926867		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56926867G>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2422G>T	16.37:g.56926867G>T	ENSP00000456149:p.Asp808Tyr					SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D808Y	p.D817Y	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			21	2478	+			808					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2449G>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383581	0.25031	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.09	1.48	0.22813	.	0.794787	0.11471	N	0.560748	T	0.66187	0.2764	M	0.77313	2.365	0.36043	D	0.840258	P;P;P	0.41673	0.759;0.712;0.512	P;B;B	0.49953	0.627;0.429;0.391	T	0.70590	-0.4830	9	0.62326	D	0.03	.	8.3943	0.32548	0.1684:0.133:0.6986:0.0	.	816;808;817	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Y	816;817	.	ENSP00000262502:D817Y	D	+	1	0	SLC12A3	55484368	1.000000	0.71417	0.972000	0.41901	0.205000	0.24178	3.972000	0.56838	0.529000	0.28599	0.561000	0.74099	GAC		0.642	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			31	145	1	0	1.30897e-18	1	1.45408e-18	31	145				
UGGT1	56886	broad.mit.edu	37	2	128927887	128927887	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128927887G>T	ENST00000259253.6	+	27	2994	c.2947G>T	c.(2947-2949)Ggg>Tgg	p.G983W	UGGT1_ENST00000375990.3_Missense_Mutation_p.G959W	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	983					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCGAAGGAAGGGGAGACATA	0.443																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2875-2877)Ggg>Tgg		UDP-glucose glycoprotein glucosyltransferase 1							151.0	120.0	131.0					2																	128927887		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128927887G>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2947G>T	2.37:g.128927887G>T	ENSP00000259253:p.Gly983Trp					UGGT1_ENST00000259253.6_Missense_Mutation_p.G983W	p.G959W			Q9NYU2	UGGG1_HUMAN			27	3278	+			983					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2875G>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232550	0.79688	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.30448	1.53;1.53	6.17	4.04	0.47022	.	0.204121	0.52532	N	0.000075	T	0.45975	0.1369	L	0.55481	1.735	0.50467	D	0.999876	D;D	0.56035	0.971;0.974	P;D	0.63877	0.649;0.919	T	0.34925	-0.9809	9	.	.	.	.	12.3439	0.55109	0.0698:0.0:0.8083:0.122	.	959;983	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	W	959;983	ENSP00000365158:G959W;ENSP00000259253:G983W	.	G	+	1	0	UGGT1	128644357	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	5.106000	0.64597	1.584000	0.49913	0.655000	0.94253	GGG		0.443	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		35	219	1	0	1.08052e-11	1	1.15422e-11	35	219				
FLT1	2321	broad.mit.edu	37	13	28901672	28901672	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28901672A>C	ENST00000282397.4	-	20	2974	c.2723T>G	c.(2722-2724)aTt>aGt	p.I908S	FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	908	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTATTCAACAATCACCATCAG	0.458																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2722-2724)aTt>aGt		fms-related tyrosine kinase 1	Sunitinib(DB01268)						80.0	75.0	77.0					13																	28901672		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28901672A>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2723T>G	13.37:g.28901672A>C	ENSP00000282397:p.Ile908Ser					FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	p.I908S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	20	2974	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	908			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2723T>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515385	0.85389	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.86432	-2.12;-2.12	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95345	0.8441	10	0.87932	D	0	.	16.1412	0.81522	1.0:0.0:0.0:0.0	.	908	P17948	VGFR1_HUMAN	S	908;126	ENSP00000282397:I908S;ENSP00000443311:I126S	ENSP00000282397:I908S	I	-	2	0	FLT1	27799672	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.339000	0.96797	2.216000	0.71823	0.402000	0.26972	ATT		0.458	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			32	161	0	0	0	1	0	32	161				
CTNNA1	1495	broad.mit.edu	37	5	138163244	138163244	+	Missense_Mutation	SNP	G	G	A	rs369518072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138163244G>A	ENST00000302763.7	+	7	989	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R300H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	300					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCGAGGAGCGCTTTAGGCCT	0.507																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(898-900)cGc>cAc		catenin (cadherin-associated protein), alpha 1, 102kDa		G	HIS/ARG	0,4406		0,0,2203	72.0	67.0	69.0		899	5.9	1.0	5		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTNNA1	NM_001903.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	300/907	138163244	1,13005	2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138163244G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.899G>A	5.37:g.138163244G>A	ENSP00000304669:p.Arg300His					CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R300H	p.R300H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	989	+			300					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.899G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600276	0.87055	0.0	1.16E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.42900	0.96;0.96;0.96	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.58428	1.81	0.80722	D	1	B;P	0.36010	0.211;0.532	B;B	0.34824	0.052;0.19	T	0.35895	-0.9770	10	0.45353	T	0.12	-9.6509	19.8512	0.96741	0.0:0.0:1.0:0.0	.	300;300	G3XAM7;P35221	.;CTNA1_HUMAN	H	197;300;300;285;300	ENSP00000347190:R197H;ENSP00000304669:R300H;ENSP00000427821:R300H	ENSP00000304669:R300H	R	+	2	0	CTNNA1	138191143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGC		0.507	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		69	235	0	0	0	1	0	69	235				
FRMD1	79981	broad.mit.edu	37	6	168479680	168479680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168479680G>T	ENST00000283309.6	-	1	159	c.95C>A	c.(94-96)cCt>cAt	p.P32H		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	32						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGGCCTCTCAGGACTGGGTTC	0.657																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(94-96)cCt>cAt		FERM domain containing 1							67.0	65.0	66.0					6																	168479680		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168479680G>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.95C>A	6.37:g.168479680G>T	ENSP00000283309:p.Pro32His						p.P32H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	1	159	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	32					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.95C>A	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163027	0.38217	.	.	ENSG00000153303	ENST00000283309;ENST00000511714	D	0.82619	-1.63	2.18	0.198	0.15168	.	.	.	.	.	T	0.62925	0.2468	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.62813	0.907	T	0.56183	-0.8021	9	0.44086	T	0.13	.	4.3029	0.10933	0.5868:0.0:0.4132:0.0	.	32	Q8N878	FRMD1_HUMAN	H	32;74	ENSP00000283309:P32H	ENSP00000283309:P32H	P	-	2	0	FRMD1	168222529	0.013000	0.17824	0.012000	0.15200	0.117000	0.20001	1.721000	0.38032	0.205000	0.20568	0.313000	0.20887	CCT		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		18	436	1	0	9.16793e-09	1	9.60025e-09	18	436				
FCN1	2219	broad.mit.edu	37	9	137801699	137801699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137801699G>A	ENST00000371806.3	-	9	1017	c.926C>T	c.(925-927)gCg>gTg	p.A309V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	309	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GTACCCCTTCGCCGCACTCCA	0.577																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(925-927)gCg>gTg		ficolin (collagen/fibrinogen domain containing) 1							108.0	99.0	102.0					9																	137801699		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801699G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.926C>T	9.37:g.137801699G>A	ENSP00000360871:p.Ala309Val						p.A309V	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	1017	-		Myeloproliferative disorder(178;0.0333)	309			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.926C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	g	6.162	0.398001	0.11696	.	.	ENSG00000085265	ENST00000371806	T	0.76186	-1.0	3.2	1.31	0.21738	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	.	.	.	.	T	0.53029	0.1771	N	0.04880	-0.145	0.09310	N	1	B	0.28055	0.199	B	0.20577	0.03	T	0.40776	-0.9545	9	0.49607	T	0.09	.	13.1125	0.59281	0.0:0.8293:0.1707:0.0	.	309	O00602	FCN1_HUMAN	V	309	ENSP00000360871:A309V	ENSP00000360871:A309V	A	-	2	0	FCN1	136941520	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.833000	0.39161	0.187000	0.20147	-0.814000	0.03130	GCG		0.577	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		101	378	0	0	0	1	0	101	378				
LRRC4C	57689	broad.mit.edu	37	11	40136372	40136372	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136372T>G	ENST00000278198.2	-	2	3434	c.1471A>C	c.(1471-1473)Acc>Ccc	p.T491P	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	491					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGAGAGGTGGTCACATTG	0.512																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1471-1473)Acc>Ccc		leucine rich repeat containing 4C							143.0	116.0	125.0					11																	40136372		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136372T>G	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1471A>C	11.37:g.40136372T>G	ENSP00000278198:p.Thr491Pro					LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P	p.T491P			Q9HCJ2	LRC4C_HUMAN			2	3434	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	491					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1471A>C	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576934	0.28092	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.84	5.84	0.93424	.	0.048768	0.85682	D	0.000000	T	0.37571	0.1008	L	0.41710	1.295	0.58432	D	0.999996	B	0.18968	0.032	B	0.21151	0.033	T	0.10730	-1.0617	10	0.39692	T	0.17	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	491	Q9HCJ2	LRC4C_HUMAN	P	491	ENSP00000278198:T491P;ENSP00000436976:T491P;ENSP00000437132:T491P;ENSP00000434761:T491P	ENSP00000278198:T491P	T	-	1	0	LRRC4C	40092948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.139000	0.71728	2.228000	0.72767	0.533000	0.62120	ACC		0.512	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		37	216	0	0	0	1	0	37	216				
MYH11	4629	broad.mit.edu	37	16	15841795	15841795	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15841795T>G	ENST00000300036.5	-	18	2295	c.2186A>C	c.(2185-2187)gAg>gCg	p.E729A	MYH11_ENST00000396324.3_Missense_Mutation_p.E736A|MYH11_ENST00000452625.2_Missense_Mutation_p.E736A|MYH11_ENST00000576790.2_Missense_Mutation_p.E729A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	729	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCAGGATCTCGTAGCTTGA	0.607			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2185-2187)gAg>gCg		myosin, heavy chain 11, smooth muscle							82.0	75.0	77.0					16																	15841795		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841795T>G	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2186A>C	16.37:g.15841795T>G	ENSP00000300036:p.Glu729Ala					MYH11_ENST00000300036.5_Missense_Mutation_p.E729A|MYH11_ENST00000452625.2_Missense_Mutation_p.E736A|MYH11_ENST00000396324.3_Missense_Mutation_p.E736A|MYH11_ENST00000576790.1_Missense_Mutation_p.E729A	p.E729A	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			18	2292	-			729			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2186A>C	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634848	0.87760	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	L	0.45698	1.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91576	0.5275	10	0.72032	D	0.01	.	13.5925	0.61967	0.0:0.0:0.0:1.0	.	736;729;736;729;736	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	A	729;729;736;736;736	ENSP00000300036:E729A;ENSP00000345136:E729A;ENSP00000379616:E736A;ENSP00000407821:E736A	ENSP00000300036:E729A	E	-	2	0	MYH11	15749296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.024000	0.88770	1.806000	0.52798	0.459000	0.35465	GAG		0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		66	328	0	0	0	1	0	66	328				
PLXDC2	84898	broad.mit.edu	37	10	20290821	20290821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20290821C>T	ENST00000377252.4	+	2	1071	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	77					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCGGTAGACACGAACCGAGCA	0.537																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(229-231)aCg>aTg		plexin domain containing 2							92.0	75.0	81.0					10																	20290821		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20290821C>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.230C>T	10.37:g.20290821C>T	ENSP00000366460:p.Thr77Met					PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	p.T77M	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			2	1071	+			77					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.230C>T	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249061	0.59103	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.31769	1.79;1.48	5.9	5.9	0.94986	.	0.193759	0.56097	D	0.000039	T	0.42607	0.1210	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.984	P;P	0.53490	0.727;0.538	T	0.20174	-1.0283	10	0.87932	D	0	.	18.4573	0.90725	0.0:1.0:0.0:0.0	.	77;77	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	M	77;77;63	ENSP00000366460:T77M;ENSP00000366450:T77M	ENSP00000366450:T77M	T	+	2	0	PLXDC2	20330827	0.992000	0.36948	0.751000	0.31187	0.018000	0.09664	3.495000	0.53280	2.808000	0.96608	0.650000	0.86243	ACG		0.537	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		39	159	0	0	0	1	0	39	159				
TCHH	7062	broad.mit.edu	37	1	152082432	152082432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152082432C>T	ENST00000368804.1	-	2	3260	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1087	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cttcctcctgctgcagctcct	0.617																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3259-3261)caG>caA		trichohyalin							96.0	99.0	98.0					1																	152082432		1983	4154	6137	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082432C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3261G>A	1.37:g.152082432C>T							p.Q1087Q	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3260	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1087			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3261G>A	CCDS41396.1																																																																																				0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		179	1134	0	0	0	1	0	179	1134				
ESR1	2099	broad.mit.edu	37	6	152415580	152415580	+	Missense_Mutation	SNP	G	G	T	rs570661763	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152415580G>T	ENST00000206249.3	+	7	1792	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000440973.1_Missense_Mutation_p.R477L|ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	477	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CATATCCACCGAGTCCTGGAC	0.557																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1429-1431)cGa>cTa		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						113.0	103.0	107.0					6																	152415580		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152415580G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1430G>T	6.37:g.152415580G>T	ENSP00000206249:p.Arg477Leu					ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000206249.3_Missense_Mutation_p.R477L|ESR1_ENST00000544394.1_Intron	p.R477L	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	9	1800	+		Ovarian(120;0.0448)	477			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1430G>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975929	0.18736	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.43	5.43	0.79202	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.415582	0.26903	N	0.021920	D	0.84343	0.5451	N	0.11673	0.155	0.80722	D	1	B;B;P;P;B;B;B	0.46656	0.005;0.003;0.681;0.882;0.003;0.001;0.001	B;B;B;B;B;B;B	0.39465	0.011;0.004;0.105;0.3;0.009;0.002;0.004	D	0.87067	0.2157	10	0.08599	T	0.76	.	14.1322	0.65263	0.0:0.0:0.8499:0.1501	.	42;172;216;404;476;477;477	B5LY05;C8CJL6;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	L	477;477;365;477;477;216;405	ENSP00000405330:R477L;ENSP00000342630:R477L;ENSP00000415934:R365L;ENSP00000387500:R477L;ENSP00000206249:R477L;ENSP00000384064:R216L	ENSP00000206249:R477L	R	+	2	0	ESR1	152457273	0.915000	0.31059	0.948000	0.38648	0.986000	0.74619	2.868000	0.48436	2.555000	0.86185	0.555000	0.69702	CGA		0.557	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			103	475	1	0	1.72158e-54	1	2.14916e-54	103	475				
SLC7A2	6542	broad.mit.edu	37	8	17422552	17422552	+	Missense_Mutation	SNP	T	T	G	rs181290750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17422552T>G	ENST00000494857.1	+	13	2092	c.1874T>G	c.(1873-1875)gTt>gGt	p.V625G	SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G|SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G|SLC7A2_ENST00000470360.1_Missense_Mutation_p.V664G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	625					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGACAACGTTCATGCAGCA	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		21406	0.001		0.0	False		,,,				2504	0.0					ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1990-1992)gTt>gGt		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						112.0	95.0	101.0					8																	17422552		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17422552T>G	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1874T>G	8.37:g.17422552T>G	ENSP00000419140:p.Val625Gly					SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G|SLC7A2_ENST00000494857.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G	p.V664G			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	14	2108	+			625					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1991T>G	CCDS34852.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	0.597	-0.830718	0.02734	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88354	-2.19;-2.19;-2.37;-2.22;-2.37	5.11	-0.393	0.12438	.	1.923250	0.01901	N	0.039188	T	0.79125	0.4393	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.0;0.017;0.004	B;B;B	0.19666	0.001;0.026;0.005	T	0.65278	-0.6207	10	0.23302	T	0.38	.	5.3749	0.16160	0.0:0.1784:0.4299:0.3916	.	665;664;625	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	G	625;625;664;665;664	ENSP00000419140:V625G;ENSP00000430464:V625G;ENSP00000419873:V664G;ENSP00000004531:V665G;ENSP00000381164:V664G	ENSP00000004531:V665G	V	+	2	0	SLC7A2	17466826	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.558000	0.05978	0.123000	0.18342	-0.263000	0.10527	GTT		0.408	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		35	172	0	0	0	1	0	35	172				
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	rs144505396		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49407930G>A	ENST00000299191.3	+	1	197	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	27						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20790	0.0		0.0	False		,,,				2504	0.0					ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(79-81)cGc>cAc		chromosome 16 open reading frame 78		G	HIS/ARG	5,4393	9.9+/-24.2	0,5,2194	141.0	124.0	130.0		80	1.6	0.3	16	dbSNP_134	130	0,8600		0,0,4300	yes	missense	C16orf78	NM_144602.2	29	0,5,6494	AA,AG,GG		0.0,0.1137,0.0385	possibly-damaging	27/266	49407930	5,12993	2199	4300	6499	SO:0001583	missense	123970							g.chr16:49407930G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.80G>A	16.37:g.49407930G>A	ENSP00000299191:p.Arg27His						p.R27H	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			1	197	+			27						Missense_Mutation	SNP	ENST00000299191.3	37	c.80G>A	CCDS10738.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.93	1.489016	0.26686	0.001137	0.0	ENSG00000166152	ENST00000299191	T	0.60672	0.17	3.59	1.62	0.23740	.	0.000000	0.39083	N	0.001480	T	0.53658	0.1810	L	0.32530	0.975	0.18873	N	0.999984	D	0.76494	0.999	P	0.56343	0.796	T	0.43589	-0.9382	10	0.72032	D	0.01	-28.566	6.1855	0.20495	0.2354:0.0:0.7646:0.0	.	27	Q8WTQ4	CP078_HUMAN	H	27	ENSP00000299191:R27H	ENSP00000299191:R27H	R	+	2	0	C16orf78	47965431	0.252000	0.23972	0.275000	0.24674	0.014000	0.08584	0.619000	0.24388	0.511000	0.28236	-0.254000	0.11334	CGC		0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		80	469	0	0	0	1	0	80	469				
CSPG4	1464	broad.mit.edu	37	15	75980750	75980750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980750G>A	ENST00000308508.5	-	3	2748	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	886	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGGTATAGAGTGGGGAGAAA	0.602																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2656-2658)Ctc>Ttc		chondroitin sulfate proteoglycan 4							60.0	59.0	59.0					15																	75980750		2197	4294	6491	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980750G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2656C>T	15.37:g.75980750G>A	ENSP00000312506:p.Leu886Phe						p.L886F	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2748	-			886			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2656C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	3.860	-0.030019	0.07543	.	.	ENSG00000173546	ENST00000308508	T	0.20069	2.1	5.02	3.12	0.35913	.	0.228408	0.29225	N	0.012762	T	0.23014	0.0556	L	0.56769	1.78	0.22851	N	0.998654	P	0.42409	0.779	B	0.42462	0.388	T	0.07443	-1.0772	10	0.56958	D	0.05	.	9.0331	0.36271	0.0835:0.4142:0.5023:0.0	.	886	Q6UVK1	CSPG4_HUMAN	F	886	ENSP00000312506:L886F	ENSP00000312506:L886F	L	-	1	0	CSPG4	73767805	0.109000	0.22037	0.492000	0.27490	0.155000	0.21991	0.496000	0.22499	0.499000	0.27970	-0.145000	0.13849	CTC		0.602	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		51	245	0	0	0	1	0	51	245				
OPRL1	4987	broad.mit.edu	37	20	62729775	62729775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729775C>T	ENST00000349451.3	+	6	1148	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	OPRL1_ENST00000336866.2_Missense_Mutation_p.R246C|OPRL1_ENST00000355631.4_Missense_Mutation_p.R246C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	246					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCGTGGAGTCCGCCTGCTCTC	0.632																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(736-738)Cgc>Tgc		opiate receptor-like 1							158.0	137.0	144.0					20																	62729775		2202	4300	6502	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729775C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.736C>T	20.37:g.62729775C>T	ENSP00000336764:p.Arg246Cys					OPRL1_ENST00000355631.4_Missense_Mutation_p.R246C|OPRL1_ENST00000336866.2_Missense_Mutation_p.R246C	p.R246C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1148	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		246					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.736C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337157	0.60963	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.40225	1.04;1.04;1.04	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79931	-0.1595	10	0.59425	D	0.04	.	17.5018	0.87734	0.0:1.0:0.0:0.0	.	241;246	P41146-2;P41146	.;OPRX_HUMAN	C	246	ENSP00000336843:R246C;ENSP00000347848:R246C;ENSP00000336764:R246C	ENSP00000336843:R246C	R	+	1	0	OPRL1	62200219	1.000000	0.71417	0.701000	0.30321	0.048000	0.14542	5.782000	0.68973	2.127000	0.65507	0.500000	0.49745	CGC		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		121	549	0	0	0	1	0	121	549				
ABCG5	64240	broad.mit.edu	37	2	44051455	44051455	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44051455T>A	ENST00000260645.1	-	8	1160	c.1021A>T	c.(1021-1023)Aat>Tat	p.N341Y	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Missense_Mutation_p.N170Y	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	341					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTTTCAATATTCTTCAAAGTT	0.388																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(508-510)Aat>Tat		ATP-binding cassette, sub-family G (WHITE), member 5							122.0	130.0	127.0					2																	44051455		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051455T>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1021A>T	2.37:g.44051455T>A	ENSP00000260645:p.Asn341Tyr					ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000260645.1_Missense_Mutation_p.N341Y	p.N170Y			Q9H222	ABCG5_HUMAN			5	1404	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	341			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.508A>T	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646928	0.47258	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;T	0.90563	-2.69;-1.3	5.61	3.28	0.37604	.	3.690330	0.00597	N	0.000373	D	0.85492	0.5709	N	0.19112	0.55	0.80722	D	1	D;P	0.57899	0.981;0.845	B;B	0.42062	0.374;0.36	T	0.73107	-0.4087	10	0.62326	D	0.03	.	8.2634	0.31799	0.0:0.2363:0.0:0.7637	.	170;341	E7EX35;Q9H222	.;ABCG5_HUMAN	Y	341;170	ENSP00000260645:N341Y;ENSP00000384513:N170Y	ENSP00000260645:N341Y	N	-	1	0	ABCG5	43904959	0.060000	0.20803	0.738000	0.30950	0.601000	0.36947	0.565000	0.23578	0.520000	0.28426	0.533000	0.62120	AAT		0.388	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		153	697	0	0	0	1	0	153	697				
SLC2A14	144195	broad.mit.edu	37	12	7982451	7982451	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7982451A>G	ENST00000543909.1	-	10	1252	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	165					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCTCCAATGTACATGGGCACA	0.512																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(493-495)Tac>Cac		solute carrier family 2 (facilitated glucose transporter), member 14							82.0	75.0	78.0					12																	7982451		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982451A>G	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.493T>C	12.37:g.7982451A>G	ENSP00000440480:p.Tyr165His					SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000542505.1_Intron	p.Y165H			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1252	-			165					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.493T>C	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	a	19.36	3.812660	0.70912	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782	T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.98005	4.125	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.92989	0.6413	10	0.87932	D	0	.	9.8101	0.40817	1.0:0.0:0.0:0.0	.	180;56;142;165	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	142;165;142;165;56;56;180;142;142	ENSP00000340450:Y142H;ENSP00000440480:Y165H;ENSP00000407287:Y142H;ENSP00000379834:Y165H;ENSP00000440492:Y56H;ENSP00000443903:Y56H;ENSP00000445929:Y180H;ENSP00000440043:Y142H;ENSP00000438312:Y142H	ENSP00000340450:Y142H	Y	-	1	0	SLC2A14	7873718	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.180000	0.89694	1.174000	0.42811	0.377000	0.23210	TAC		0.512	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		51	231	0	0	0	1	0	51	231				
KIF6	221458	broad.mit.edu	37	6	39353422	39353422	+	Missense_Mutation	SNP	G	G	A	rs139112928	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39353422G>A	ENST00000287152.7	-	16	1931	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W|KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000229913.5_Missense_Mutation_p.R64W	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	613					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R613W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTATATGCCGCTGGGTGATT	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		17500	0.0		0.001	False		,,,				2504	0.001					ENST00000287152.7																			2	Substitution - Missense(2)	p.R613W(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1837-1839)Cgg>Tgg		kinesin family member 6		G	TRP/ARG	0,4406		0,0,2203	121.0	114.0	116.0		1837	0.4	1.0	6	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KIF6	NM_145027.4	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	613/815	39353422	3,13003	2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39353422G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1837C>T	6.37:g.39353422G>A	ENSP00000287152:p.Arg613Trp					KIF6_ENST00000229913.5_Missense_Mutation_p.R64W|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W|KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W	p.R613W	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			16	1931	-			613					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1837C>T	CCDS4844.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.09	3.760680	0.69763	0.0	3.49E-4	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.73	0.423	0.16463	.	.	.	.	.	T	0.40839	0.1133	L	0.61218	1.895	0.37614	D	0.921045	D;D;B	0.89917	1.0;0.999;0.059	D;P;B	0.72075	0.976;0.827;0.01	T	0.40887	-0.9539	9	0.87932	D	0	.	4.4564	0.11645	0.0749:0.1226:0.3222:0.4803	.	557;613;613	F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	W	613;64;613;452;64;557;64;64	ENSP00000287152:R613W;ENSP00000377889:R64W;ENSP00000362312:R613W;ENSP00000362309:R452W;ENSP00000229913:R64W;ENSP00000441435:R557W;ENSP00000439064:R64W	ENSP00000229913:R64W	R	-	1	2	KIF6	39461400	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	1.070000	0.30653	0.125000	0.18397	-0.147000	0.13772	CGG		0.468	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		50	257	0	0	0	1	0	50	257				
KCNH4	23415	broad.mit.edu	37	17	40318398	40318398	+	Missense_Mutation	SNP	C	C	T	rs146559611	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318398C>T	ENST00000264661.3	-	10	2089	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R586H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	586					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCATCCCCACGGCGCAACAG	0.642																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1756-1758)cGt>cAt		potassium voltage-gated channel, subfamily H (eag-related), member 4		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	61.0	55.0	57.0		1757	4.2	1.0	17	dbSNP_134	57	12,8588	9.1+/-34.3	0,12,4288	yes	missense	KCNH4	NM_012285.2	29	0,14,6489	TT,TC,CC		0.1395,0.0454,0.1076	benign	586/1018	40318398	14,12992	2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318398C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1757G>A	17.37:g.40318398C>T	ENSP00000264661:p.Arg586His					KCNH4_ENST00000607371.1_Missense_Mutation_p.R586H	p.R586H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2089	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	586						Missense_Mutation	SNP	ENST00000264661.3	37	c.1757G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920124	0.52653	4.54E-4	0.001395	ENSG00000089558	ENST00000264661	D	0.96716	-4.1	4.17	4.17	0.49024	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.205303	0.22343	N	0.061320	D	0.90563	0.7042	N	0.26162	0.8	0.40380	D	0.979432	B	0.15141	0.012	B	0.13407	0.009	D	0.85445	0.1157	10	0.33141	T	0.24	.	4.9682	0.14102	0.0:0.7283:0.0:0.2717	.	586	Q9UQ05	KCNH4_HUMAN	H	586	ENSP00000264661:R586H	ENSP00000264661:R586H	R	-	2	0	KCNH4	37571924	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.991000	0.70602	2.176000	0.68965	0.467000	0.42956	CGT		0.642	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	168	0	0	0	1	0	5	168				
MDN1	23195	broad.mit.edu	37	6	90406082	90406082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406082A>G	ENST00000369393.3	-	60	9495	c.9380T>C	c.(9379-9381)tTc>tCc	p.F3127S	MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3127					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGAATACCTGAATTCTGCTAC	0.498																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(9379-9381)tTc>tCc		MDN1, midasin homolog (yeast)							71.0	63.0	66.0					6																	90406082		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90406082A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9380T>C	6.37:g.90406082A>G	ENSP00000358400:p.Phe3127Ser					MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S	p.F3127S			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	60	9495	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3127					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.9380T>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224206	0.58668	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03152	4.03;4.03	5.45	5.45	0.79879	.	0.118077	0.56097	D	0.000024	T	0.02230	0.0069	L	0.34521	1.04	0.52099	D	0.999941	D	0.54397	0.966	P	0.47299	0.543	T	0.63157	-0.6700	10	0.33141	T	0.24	.	11.2912	0.49252	0.8635:0.0:0.0:0.1365	.	3127	Q9NU22	MDN1_HUMAN	S	3127	ENSP00000358400:F3127S;ENSP00000413970:F3127S	ENSP00000358400:F3127S	F	-	2	0	MDN1	90462803	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.748000	0.74877	2.067000	0.61834	0.533000	0.62120	TTC		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			46	166	0	0	0	1	0	46	166				
SLC38A7	55238	broad.mit.edu	37	16	58713944	58713944	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58713944G>A	ENST00000570101.1	-	2	970	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.P29P|SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000564010.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	29					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCCACACAGGGACTCTGCA	0.627																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(85-87)ccC>ccT		solute carrier family 38, member 7							33.0	31.0	32.0					16																	58713944		2198	4300	6498	SO:0001819	synonymous_variant	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58713944G>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.87C>T	16.37:g.58713944G>A						SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000219320.4_Silent_p.P29P|SLC38A7_ENST00000566953.1_Intron	p.P29P			Q9NVC3	S38A7_HUMAN			2	970	-			29					Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	37	c.87C>T	CCDS10800.1																																																																																				0.627	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		26	131	0	0	0	1	0	26	131				
CPA5	93979	broad.mit.edu	37	7	130002306	130002306	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130002306G>T	ENST00000485477.1	+	7	1691	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	188						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCGGCACCCAGCCATCTGGAT	0.552																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(562-564)Gcc>Tcc		carboxypeptidase A5							56.0	51.0	53.0					7																	130002306		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130002306G>T	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.562G>T	7.37:g.130002306G>T	ENSP00000420237:p.Ala188Ser					CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S|CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_Missense_Mutation_p.A188S	p.A188S			Q8WXQ8	CBPA5_HUMAN			7	1691	+	Melanoma(18;0.0435)		188					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.562G>T	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441848	0.96187	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.87	5.87	0.94306	Peptidase M14, carboxypeptidase A (4);	0.088968	0.49305	D	0.000146	T	0.33059	0.0850	M	0.67953	2.075	0.44966	D	0.997988	D;D	0.64830	0.987;0.994	D;D	0.71656	0.969;0.974	T	0.00189	-1.1939	9	.	.	.	.	19.1932	0.93675	0.0:0.0:1.0:0.0	.	188;188	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	S	188	ENSP00000347549:A188S;ENSP00000418183:A188S;ENSP00000419025:A188S;ENSP00000420237:A188S;ENSP00000393045:A188S;ENSP00000417314:A188S;ENSP00000376907:A188S	.	A	+	1	0	CPA5	129789542	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.346000	0.97056	2.777000	0.95525	0.591000	0.81541	GCC		0.552	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		10	270	1	0	0.000673444	1	0.000681208	10	270				
PTENP1	11191	broad.mit.edu	37	9	33676518	33676518	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33676518G>A	ENST00000532280.1	-	0	979					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TCCTGTATACGCCTTCAAGTC	0.338																																						ENST00000532280.1																			0																																																			0							g.chr9:33676518G>A	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676518G>A								NR_023917.1						0	979	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.338	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		57	339	0	0	0	1	0	57	339				
GIT1	28964	broad.mit.edu	37	17	27910532	27910532	+	Missense_Mutation	SNP	C	C	T	rs200603121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27910532C>T	ENST00000225394.3	-	2	403	c.155G>A	c.(154-156)cGc>cAc	p.R52H	GIT1_ENST00000581348.1_Missense_Mutation_p.R52H|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.R52H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	52	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCGCTGTGGCGAAGGTGCTT	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21121	0.0		0.0	False		,,,				2504	0.0				Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(154-156)cGc>cAc		G protein-coupled receptor kinase interacting ArfGAP 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	91.0	63.0	72.0		155,155	4.8	1.0	17		72	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	GIT1	NM_001085454.1,NM_014030.3	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	52/771,52/762	27910532	1,13003	2203	4299	6502	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27910532C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.155G>A	17.37:g.27910532C>T	ENSP00000225394:p.Arg52His					RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.R52H|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H|GIT1_ENST00000394869.3_Missense_Mutation_p.R52H	p.R52H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	2	403	-			52			Arf-GAP.		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.155G>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886017	0.72410	0.0	1.16E-4	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.68479	-0.33;-0.33	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	N	0.16201	0.385	0.80722	D	1	P;B;P;B	0.34662	0.462;0.407;0.462;0.068	B;B;B;B	0.29785	0.107;0.062;0.103;0.041	T	0.48317	-0.9046	10	0.25751	T	0.34	.	17.2819	0.87131	0.0:1.0:0.0:0.0	.	56;52;52;52	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	52	ENSP00000225394:R52H;ENSP00000378338:R52H	ENSP00000225394:R52H	R	-	2	0	GIT1	24934658	0.978000	0.34361	1.000000	0.80357	0.992000	0.81027	2.532000	0.45659	2.688000	0.91661	0.655000	0.94253	CGC		0.642	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		32	138	0	0	0	1	0	32	138				
ZNF184	7738	broad.mit.edu	37	6	27419782	27419782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419782T>C	ENST00000211936.6	-	6	1840	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTGATGCTGATTAAGGTT	0.383																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1555-1557)cAg>cGg		zinc finger protein 184							74.0	74.0	74.0					6																	27419782		2203	4299	6502	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419782T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1556A>G	6.37:g.27419782T>C	ENSP00000211936:p.Gln519Arg					ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	p.Q519R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1840	-			519					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1556A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	7.067	0.567513	0.13560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.07688	3.17;3.17	5.18	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000265	T	0.01254	0.0041	N	0.11560	0.145	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.48445	-0.9035	10	0.15952	T	0.53	.	8.1288	0.31014	0.2953:0.0:0.0:0.7047	.	519	Q99676	ZN184_HUMAN	R	519	ENSP00000211936:Q519R;ENSP00000366636:Q519R	ENSP00000211936:Q519R	Q	-	2	0	ZNF184	27527761	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.950000	0.01530	2.176000	0.68965	0.482000	0.46254	CAG		0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		52	274	0	0	0	1	0	52	274				
MAGEC1	9947	broad.mit.edu	37	X	140994053	140994053	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994053C>A	ENST00000285879.4	+	4	1149	c.863C>A	c.(862-864)cCt>cAt	p.P288H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	288										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTTCCCCTGAGAGAACT	0.488										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(862-864)cCt>cAt		melanoma antigen family C, 1							104.0	96.0	99.0					X																	140994053		2201	4274	6475	SO:0001583	missense	9947						protein binding	g.chrX:140994053C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.863C>A	X.37:g.140994053C>A	ENSP00000285879:p.Pro288His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P288H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1149	+	Acute lymphoblastic leukemia(192;6.56e-05)		288					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.863C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.342	0.248409	0.10130	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.14893	3.24;2.47	.	.	.	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	D	0.54964	0.969	P	0.47162	0.54	T	0.28427	-1.0044	8	0.39692	T	0.17	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	288	O60732	MAGC1_HUMAN	H	288;90;89	ENSP00000285879:P288H;ENSP00000359542:P90H	ENSP00000285879:P288H	P	+	2	0	MAGEC1	140821719	0.000000	0.05858	0.024000	0.17045	0.024000	0.10985	-0.143000	0.10296	0.148000	0.19059	0.150000	0.16122	CCT		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		275	682	1	0	4.13265e-109	1	5.31965e-109	275	682				
ILF2	3608	broad.mit.edu	37	1	153642341	153642341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153642341C>T	ENST00000361891.4	-	3	204	c.79G>A	c.(79-81)Gta>Ata	p.V27I	ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	27	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATGTGGTACAAAGGGCCTG	0.388																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.(79-81)Gta>Ata		interleukin enhancer binding factor 2							139.0	125.0	129.0					1																	153642341		2203	4300	6503	SO:0001583	missense	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153642341C>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.79G>A	1.37:g.153642341C>T	ENSP00000355011:p.Val27Ile					ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	204	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		27					A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	37	c.79G>A	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945391	0.53079	.	.	ENSG00000143621	ENST00000361891;ENST00000368681	T	0.45276	0.9	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.25332	0.735	0.80722	D	1	B;B	0.33748	0.423;0.298	B;B	0.35859	0.212;0.105	T	0.04915	-1.0918	10	0.24483	T	0.36	-3.085	11.8081	0.52167	0.0:1.0:0.0:0.0	.	27;27	F4ZW62;Q12905	.;ILF2_HUMAN	I	27	ENSP00000355011:V27I	ENSP00000355011:V27I	V	-	1	0	ILF2	151908965	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.031000	0.70911	2.163000	0.67991	0.561000	0.74099	GTA		0.388	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		61	335	0	0	0	1	0	61	335				
SYNCRIP	10492	broad.mit.edu	37	6	86346734	86346734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86346734G>A	ENST00000369622.3	-	6	1117	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.A206V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	206	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AGTGACAAACGCATAACCTCT	0.393																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(616-618)gCg>gTg		synaptotagmin binding, cytoplasmic RNA interacting protein							85.0	82.0	83.0					6																	86346734		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86346734G>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.617C>T	6.37:g.86346734G>A	ENSP00000358635:p.Ala206Val					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.A206V	p.A206V	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	6	823	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	206			RRM 1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.617C>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621423	0.96660	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.61742	0.41;0.08	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.953;0.969;0.998;0.994;0.998;0.999	D	0.87738	0.2583	10	0.87932	D	0	.	19.5693	0.95406	0.0:0.0:1.0:0.0	.	206;206;108;54;206;206;206	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	V	206	ENSP00000347380:A206V;ENSP00000358635:A206V	ENSP00000347380:A206V	A	-	2	0	SYNCRIP	86403453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.724000	0.93272	0.650000	0.86243	GCG		0.393	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		20	420	0	0	0	1	0	20	420				
KIF14	9928	broad.mit.edu	37	1	200544719	200544719	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200544719C>A	ENST00000367350.4	-	22	4004	c.3566G>T	c.(3565-3567)aGg>aTg	p.R1189M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1189	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGTCTTTACCTCCTTCTAGA	0.368																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.e22+1		kinesin family member 14							88.0	82.0	84.0					1																	200544719		2203	4300	6503	SO:0001630	splice_region_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200544719C>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3566+1G>T	1.37:g.200544719C>A							p.R1189_splice	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			22	4004	-			1189			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	37	c.3566_splice	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874539	0.72180	.	.	ENSG00000118193	ENST00000367350	T	0.18502	2.21	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.71581	2.175	0.52099	D	0.999943	D	0.89917	1.0	D	0.71184	0.972	T	0.08106	-1.0738	9	.	.	.	.	11.4977	0.50419	0.0:0.9164:0.0:0.0836	.	1189	Q15058	KIF14_HUMAN	M	1189	ENSP00000356319:R1189M	.	R	-	2	0	KIF14	198811342	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.194000	0.51005	2.267000	0.75376	0.563000	0.77884	AGG		0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	Missense_Mutation	51	237	1	0	1.21353e-23	1	1.38083e-23	51	237				
SLC4A1AP	22950	broad.mit.edu	37	2	27886811	27886811	+	Silent	SNP	C	C	A	rs139689483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27886811C>A	ENST00000326019.6	+	1	474	c.192C>A	c.(190-192)acC>acA	p.T64T	SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000406540.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	64						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGTCAGAGACCCTGGCGTCGC	0.592																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(190-192)acC>acA		solute carrier family 4 (anion exchanger), member 1, adaptor protein							90.0	85.0	87.0					2																	27886811		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27886811C>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.192C>A	2.37:g.27886811C>A							p.T64T	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			1	474	+	Acute lymphoblastic leukemia(172;0.155)		64					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.192C>A	CCDS33166.1																																																																																				0.592	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		100	589	1	0	3.18938e-35	1	3.80496e-35	100	589				
NACC1	112939	broad.mit.edu	37	19	13246954	13246954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246954C>T	ENST00000292431.4	+	2	1059	c.933C>T	c.(931-933)aaC>aaT	p.N311N		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	311					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCATGATGAACGTCGGCCAGA	0.617																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(931-933)aaC>aaT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							138.0	119.0	125.0					19																	13246954		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246954C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.933C>T	19.37:g.13246954C>T							p.N311N	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	1059	+			311						Silent	SNP	ENST00000292431.4	37	c.933C>T	CCDS12294.1																																																																																				0.617	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		38	192	0	0	0	1	0	38	192				
PANX2	56666	broad.mit.edu	37	22	50615556	50615556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50615556G>A	ENST00000395842.2	+	2	415	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	139					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GTACGTGCCCGCGCTGGGCTG	0.687																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(415-417)Gcg>Acg		pannexin 2							36.0	28.0	31.0					22																	50615556		2195	4298	6493	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615556G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.415G>A	22.37:g.50615556G>A	ENSP00000379183:p.Ala139Thr					PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	p.A139T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	415	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	139					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.415G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465657	0.84425	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.29655	1.56;1.56	4.54	3.5	0.40072	.	0.064589	0.64402	D	0.000008	T	0.22859	0.0552	L	0.36672	1.1	0.58432	D	0.999997	P;P	0.42757	0.597;0.789	B;B	0.37015	0.089;0.239	T	0.08086	-1.0739	10	0.54805	T	0.06	-13.0858	12.2486	0.54585	0.0843:0.0:0.9157:0.0	.	139;139	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	139	ENSP00000159647:A139T;ENSP00000379183:A139T	ENSP00000159647:A139T	A	+	1	0	PANX2	48957683	1.000000	0.71417	0.880000	0.34516	0.988000	0.76386	7.571000	0.82399	2.251000	0.74343	0.555000	0.69702	GCG		0.687	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		12	97	0	0	0	1	0	12	97				
PRKAG2	51422	broad.mit.edu	37	7	151372653	151372653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151372653G>A	ENST00000287878.4	-	4	1041	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000433631.2_Silent_p.S55S|PRKAG2_ENST00000392801.2_Silent_p.S135S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	179					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CGTGCTTATAGGATTCCAGGG	0.587																																						ENST00000287878.4																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(535-537)tcC>tcT		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							146.0	123.0	131.0					7																	151372653		2203	4300	6503	SO:0001819	synonymous_variant	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151372653G>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.537C>T	7.37:g.151372653G>A						PRKAG2_ENST00000433631.2_Silent_p.S55S|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000392801.2_Silent_p.S135S	p.S179S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	4	1041	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	179					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	c.537C>T	CCDS5928.1																																																																																				0.587	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		10	534	0	0	0	1	0	10	534				
DPP6	1804	broad.mit.edu	37	7	154379458	154379458	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154379458C>T	ENST00000377770.3	+	6	768				DPP6_ENST00000406326.1_Silent_p.G242G|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			gtcaccagggctgttttcttc	0.468																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(724-726)ggC>ggT		dipeptidyl-peptidase 6							11.0	10.0	10.0					7																	154379458		870	1983	2853	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379458C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-50073C>T	7.37:g.154379458C>T						DPP6_ENST00000377770.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron	p.G242G			P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1129	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Silent	SNP	ENST00000377770.3	37	c.726C>T																																																																																					0.468	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		6	52	0	0	0	1	0	6	52				
SCG3	29106	broad.mit.edu	37	15	51975574	51975574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51975574C>T	ENST00000220478.3	+	4	743	c.340C>T	c.(340-342)Cga>Tga	p.R114*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	114					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCAAGAATCGAAAACTGAT	0.318																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(340-342)Cga>Tga		secretogranin III							119.0	126.0	124.0					15																	51975574		2195	4293	6488	SO:0001587	stop_gained	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975574C>T	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.340C>T	15.37:g.51975574C>T	ENSP00000220478:p.Arg114*					SCG3_ENST00000542355.2_5'UTR	p.R114*	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	743	+			114					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Nonsense_Mutation	SNP	ENST00000220478.3	37	c.340C>T	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	40	8.080766	0.98643	.	.	ENSG00000104112	ENST00000220478	.	.	.	6.07	4.16	0.48862	.	0.059838	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.973	10.9175	0.47146	0.1314:0.8019:0.0:0.0667	.	.	.	.	X	114	.	ENSP00000220478:R114X	R	+	1	2	SCG3	49762866	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.223000	0.51231	1.534000	0.49203	0.655000	0.94253	CGA		0.318	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		83	481	0	0	0	1	0	83	481				
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059536C>A	ENST00000360358.3	+	1	648	c.648C>A	c.(646-648)ctC>ctA	p.L216L	OR2W3_ENST00000537741.1_Silent_p.L216L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(646-648)ctC>ctA		olfactory receptor, family 2, subfamily W, member 3							203.0	183.0	190.0					1																	248059536		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059536C>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.648C>A	1.37:g.248059536C>A						OR2W3_ENST00000360358.3_Silent_p.L216L	p.L216L			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	905	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		216					Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.648C>A	CCDS31099.1																																																																																				0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		223	747	1	0	8.35629e-93	1	1.07345e-92	223	747				
RNF39	80352	broad.mit.edu	37	6	30038975	30038975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30038975C>T	ENST00000244360.6	-	4	1273	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	RNF39_ENST00000376751.3_Silent_p.A326A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GGGGGCCAGGCGCCTGGAAGG	0.687																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(1174-1176)gcG>gcA		ring finger protein 39							15.0	11.0	13.0					6																	30038975		1496	2697	4193	SO:0001819	synonymous_variant	80352					cytoplasm	zinc ion binding	g.chr6:30038975C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.1176G>A	6.37:g.30038975C>T						RNF39_ENST00000376751.3_Silent_p.A326A	p.A392A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			4	1273	-			392			B30.2/SPRY.		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	37	c.1176G>A	CCDS4673.1																																																																																				0.687	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		22	66	0	0	0	1	0	22	66				
AKAP4	8852	broad.mit.edu	37	X	49957477	49957477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957477G>A	ENST00000376056.2	-	5	2010	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376064.3_Silent_p.I620I					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCATTAGAACGATGTTTGACA	0.458																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1858-1860)atC>atT		A kinase (PRKA) anchor protein 4							164.0	137.0	146.0					X																	49957477		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957477G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1860C>T	X.37:g.49957477G>A						AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376064.3_Silent_p.I620I|AKAP4_ENST00000481402.1_5'UTR	p.I620I			Q5JQC9	AKAP4_HUMAN			5	2010	-	Ovarian(276;0.236)		629						Silent	SNP	ENST00000376056.2	37	c.1860C>T	CCDS14330.1																																																																																				0.458	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		162	616	0	0	0	1	0	162	616				
XDH	7498	broad.mit.edu	37	2	31571782	31571782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31571782C>T	ENST00000379416.3	-	27	3082	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1012					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGAAAAGGAACTGTAAAGCTT	0.388																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3034-3036)Gtt>Att		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						102.0	102.0	102.0					2																	31571782		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31571782C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3034G>A	2.37:g.31571782C>T	ENSP00000368727:p.Val1012Ile						p.V1012I	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			27	3082	-	Acute lymphoblastic leukemia(172;0.155)		1012					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3034G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	8.416	0.845221	0.16963	.	.	ENSG00000158125	ENST00000379416	T	0.43294	0.95	5.85	-11.0	0.00169	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.594745	0.19170	N	0.120946	T	0.25865	0.0630	L	0.47016	1.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11494	-1.0585	10	0.16896	T	0.51	.	14.4795	0.67570	0.0:0.2955:0.5407:0.1638	.	1012	P47989	XDH_HUMAN	I	1012	ENSP00000368727:V1012I	ENSP00000368727:V1012I	V	-	1	0	XDH	31425286	0.000000	0.05858	0.000000	0.03702	0.847000	0.48162	-4.438000	0.00234	-2.268000	0.00685	-3.099000	0.00064	GTT		0.388	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		53	161	0	0	0	1	0	53	161				
NR2C1	7181	broad.mit.edu	37	12	95453692	95453692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95453692G>A	ENST00000333003.5	-	4	684	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000393101.3_Silent_p.D118D|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	118	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGATGCTTTGTCTCCACATA	0.313																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(352-354)gaC>gaT		nuclear receptor subfamily 2, group C, member 1							62.0	62.0	62.0					12																	95453692		2203	4298	6501	SO:0001819	synonymous_variant	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95453692G>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.354C>T	12.37:g.95453692G>A						NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000393101.3_Silent_p.D118D|NR2C1_ENST00000545833.1_5'UTR	p.D118D	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			4	684	-			118			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	c.354C>T	CCDS9051.1																																																																																				0.313	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		26	162	0	0	0	1	0	26	162				
NUP214	8021	broad.mit.edu	37	9	134021520	134021520	+	Missense_Mutation	SNP	A	A	G	rs142397246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134021520A>G	ENST00000359428.5	+	13	1918	c.1774A>G	c.(1774-1776)Act>Gct	p.T592A	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Intron|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	592	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTCAGGTTTACTGCTGCAGC	0.483			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1774-1776)Act>Gct		nucleoporin 214kDa							185.0	188.0	187.0					9																	134021520		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134021520A>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1774A>G	9.37:g.134021520A>G	ENSP00000352400:p.Thr592Ala					RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Intron	p.T592A			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	13	1918	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	592			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1774A>G	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.13|11.13	1.547827|1.547827	0.27652|0.27652	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000451030;ENST00000540899;ENST00000438605|ENST00000530863	T;T|.	0.31769|.	1.49;1.48|.	5.29|5.29	-1.79|-1.79	0.07932|0.07932	.|.	.|.	.|.	.|.	.|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.11329|.	0.006;0.002|.	T|T	0.28332|0.28332	-1.0047|-1.0047	9|5	0.30078|.	T|.	0.28|.	.|.	1.5927|1.5927	0.02657|0.02657	0.4304:0.2805:0.166:0.1232|0.4304:0.2805:0.166:0.1232	.|.	185;592|.	Q5JUP9;P35658|.	.;NU214_HUMAN|.	A|C	592;592;185;21|167	ENSP00000352400:T592A;ENSP00000405014:T592A|.	ENSP00000352400:T592A|.	T|Y	+|+	1|2	0|0	NUP214|NUP214	133011341|133011341	0.013000|0.013000	0.17824|0.17824	0.009000|0.009000	0.14445|0.14445	0.129000|0.129000	0.20672|0.20672	0.585000|0.585000	0.23879|0.23879	0.007000|0.007000	0.14760|0.14760	0.402000|0.402000	0.26972|0.26972	ACT|TAC		0.483	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		140	1290	0	0	0	1	0	140	1290				
CLEC4G	339390	broad.mit.edu	37	19	7796186	7796186	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7796186C>T	ENST00000328853.5	-	3	254	c.186G>A	c.(184-186)gcG>gcA	p.A62A	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	62						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CGTCAAGCAGCGCCGCGCGCT	0.726																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000328853.5																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						c.(184-186)gcG>gcA		C-type lectin domain family 4, member G							6.0	7.0	7.0					19																	7796186		2148	4211	6359	SO:0001819	synonymous_variant	339390					integral to membrane	protein binding|sugar binding	g.chr19:7796186C>T	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.186G>A	19.37:g.7796186C>T						CLEC4G_ENST00000598081.1_5'UTR	p.A62A	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN			3	254	-			62						Silent	SNP	ENST00000328853.5	37	c.186G>A	CCDS12185.1																																																																																				0.726	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		7	47	0	0	0	1	0	7	47				
RFX6	222546	broad.mit.edu	37	6	117248279	117248279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117248279G>T	ENST00000332958.2	+	17	1991	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	659					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTAACCAAGGACCAATGGC	0.527																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1975-1977)Gga>Tga		regulatory factor X, 6							135.0	129.0	131.0					6																	117248279		2203	4300	6503	SO:0001587	stop_gained	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248279G>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1975G>T	6.37:g.117248279G>T	ENSP00000332208:p.Gly659*						p.G659*	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			17	1991	+			659					Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	c.1975G>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	38	6.762283	0.97821	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.68	5.68	0.88126	.	0.342302	0.32444	N	0.006086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-14.095	19.7821	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000332208:G659X	G	+	1	0	RFX6	117354972	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.142000	0.77339	2.682000	0.91365	0.655000	0.94253	GGA		0.527	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		112	569	1	0	4.50738e-69	1	5.71813e-69	112	569				
DLG2	1740	broad.mit.edu	37	11	84245751	84245751	+	Silent	SNP	G	G	A	rs149841754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84245751G>A	ENST00000532653.1	-	2	368	c.66C>T	c.(64-66)gaC>gaT	p.D22D	DLG2_ENST00000398309.2_Silent_p.D22D|DLG2_ENST00000543673.1_Silent_p.D127D|DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000376104.2_Silent_p.D127D			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATGTGGAGCGTCCTCATCTT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20971	0.0		0.0	False		,,,				2504	0.001					ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(64-66)gaC>gaT		discs, large homolog 2 (Drosophila)		G	,	0,3754		0,0,1877	179.0	167.0	171.0		381,66	-4.0	0.9	11	dbSNP_134	171	2,8226		0,2,4112	no	coding-synonymous,coding-synonymous	DLG2	NM_001142699.1,NM_001364.3	,	0,2,5989	AA,AG,GG		0.0243,0.0,0.0167	,	127/976,22/871	84245751	2,11980	1877	4114	5991	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84245751G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.66C>T	11.37:g.84245751G>A						DLG2_ENST00000543673.1_Silent_p.D127D|DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000532653.1_Silent_p.D22D|DLG2_ENST00000376104.2_Silent_p.D127D	p.D22D	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			2	536	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	22					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.66C>T																																																																																					0.383	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		141	600	0	0	0	1	0	141	600				
HNRNPH3	3189	broad.mit.edu	37	10	70101600	70101600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70101600G>A	ENST00000265866.7	+	9	1121	c.956G>A	c.(955-957)gGt>gAt	p.G319D	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	319	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GATGGTTTGGGTGGTTATGGT	0.363																																						ENST00000265866.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						c.(955-957)gGt>gAt		heterogeneous nuclear ribonucleoprotein H3 (2H9)							184.0	157.0	166.0					10																	70101600		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70101600G>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.956G>A	10.37:g.70101600G>A	ENSP00000265866:p.Gly319Asp					HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D	p.G319D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN			9	1121	+			319			Gly-rich.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.956G>A	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741177	0.49151	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.15487	2.78;2.42;2.58	5.66	5.66	0.87406	.	0.096984	0.64402	D	0.000001	T	0.39332	0.1074	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.02208	-1.1195	10	0.46703	T	0.11	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	211;304;319	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	D	319;211;304	ENSP00000265866:G319D;ENSP00000409869:G211D;ENSP00000346726:G304D	ENSP00000265866:G319D	G	+	2	0	HNRNPH3	69771606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.188000	0.89710	2.653000	0.90120	0.563000	0.77884	GGT		0.363	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			74	360	0	0	0	1	0	74	360				
C6	729	broad.mit.edu	37	5	41203349	41203349	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41203349G>T	ENST00000263413.3	-	0	248				C6_ENST00000337836.5_De_novo_Start_OutOfFrame	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGAGCCTCCAGGCCCTAAAAT	0.423																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96								complement component 6							85.0	81.0	82.0					5																	41203349		2203	4300	6503			729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41203349G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.-17C>A	5.37:g.41203349G>T						C6_ENST00000337836.5_De_novo_Start_OutOfFrame		NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			0	248	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)							Translation_Start_Site	SNP	ENST00000263413.3	37		CCDS3936.1																																																																																				0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			34	327	1	0	3.76114e-14	1	4.07806e-14	34	327				
DSG4	147409	broad.mit.edu	37	18	28992915	28992915	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28992915A>G	ENST00000308128.4	+	16	2615	c.2480A>G	c.(2479-2481)gAc>gGc	p.D827G	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D846G	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	827					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTGTGGATGACTTAGATGAA	0.453																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2536-2538)gAc>gGc		desmoglein 4							134.0	124.0	127.0					18																	28992915		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992915A>G	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2480A>G	18.37:g.28992915A>G	ENSP00000311859:p.Asp827Gly					RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D827G	p.D846G	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2566	+			827					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2537A>G	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080926	0.76528	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.79141	-1.24;-1.24	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	0.000000	0.36482	N	0.002569	D	0.89842	0.6832	M	0.89214	3.015	0.45718	D	0.998622	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.91774	0.5430	10	0.87932	D	0	.	15.8549	0.78968	1.0:0.0:0.0:0.0	.	846;827	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	G	827;846	ENSP00000311859:D827G;ENSP00000352785:D846G	ENSP00000311859:D827G	D	+	2	0	DSG4	27246913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.420000	0.66441	2.141000	0.66446	0.528000	0.53228	GAC		0.453	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		98	469	0	0	0	1	0	98	469				
EVX1	2128	broad.mit.edu	37	7	27283025	27283025	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27283025A>G	ENST00000496902.4	+	1	862	c.376A>G	c.(376-378)Agc>Ggc	p.S126G	EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000535619.1_Intron|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000222761.3_Intron			P49640	EVX1_HUMAN	even-skipped homeobox 1	126					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AATCGAGGTGAGCTGCACCCC	0.682																																						ENST00000496902.4																			0				kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(376-378)Agc>Ggc		even-skipped homeobox 1							19.0	20.0	20.0					7																	27283025		2193	4282	6475	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27283025A>G		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.376A>G	7.37:g.27283025A>G	ENSP00000419266:p.Ser126Gly					EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1_ENST00000222761.3_Intron	p.S126G			P49640	EVX1_HUMAN			1	862	+			126					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.376A>G	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	A	7.048	0.563897	0.13498	.	.	ENSG00000106038	ENST00000496902	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.71581	2.175	0.80722	D	1	B	0.16166	0.016	B	0.18561	0.022	T	0.83129	-0.0114	10	0.06099	T	0.92	-24.7788	15.3786	0.74633	1.0:0.0:0.0:0.0	.	126	P49640	EVX1_HUMAN	G	126	ENSP00000419266:S126G	ENSP00000419266:S126G	S	+	1	0	EVX1	27249550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.797000	0.91882	2.038000	0.60285	0.459000	0.35465	AGC		0.682	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			13	174	0	0	0	1	0	13	174				
EPOR	2057	broad.mit.edu	37	19	11492692	11492692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492692G>A	ENST00000222139.6	-	3	445	c.341C>T	c.(340-342)aCg>aTg	p.T114M	EPOR_ENST00000592375.2_Missense_Mutation_p.T114M	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	114					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GAAGCTCGACGTGTCGGCTGT	0.622																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(340-342)aCg>aTg		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						60.0	53.0	55.0					19																	11492692		2203	4300	6503	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492692G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.341C>T	19.37:g.11492692G>A	ENSP00000222139:p.Thr114Met					EPOR_ENST00000222139.6_Missense_Mutation_p.T114M	p.T114M			P19235	EPOR_HUMAN			3	445	-			114					B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.341C>T	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090546	0.76756	.	.	ENSG00000187266	ENST00000222139	D	0.84516	-1.86	4.18	4.18	0.49190	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.410322	0.20505	N	0.091004	D	0.86636	0.5980	L	0.57536	1.79	0.28431	N	0.917265	D	0.63046	0.992	P	0.52710	0.707	T	0.81512	-0.0899	10	0.49607	T	0.09	.	12.3535	0.55161	0.0:0.0:1.0:0.0	.	114	P19235	EPOR_HUMAN	M	114	ENSP00000222139:T114M	ENSP00000222139:T114M	T	-	2	0	EPOR	11353692	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.100000	0.64560	2.074000	0.62210	0.305000	0.20034	ACG		0.622	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			77	250	0	0	0	1	0	77	250				
IRF1	3659	broad.mit.edu	37	5	131821409	131821409	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131821409C>T	ENST00000245414.4	-	8	926		c.e8-1		IRF1_ENST00000405885.2_Splice_Site|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCTGTTGTAGCTGTGGATGGG	0.537																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.e8-1		interferon regulatory factor 1							254.0	185.0	208.0					5																	131821409		2203	4300	6503	SO:0001630	splice_region_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131821409C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.668-1G>A	5.37:g.131821409C>T						IRF1_ENST00000405885.2_Splice_Site		NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	8	926	-		all_cancers(142;0.026)|Breast(839;0.198)						Q96GG7	Splice_Site	SNP	ENST00000245414.4	37		CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609289	0.66558	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3525	0.43945	0.0:0.907:0.0:0.093	.	.	.	.	.	-1	.	.	.	-	.	.	IRF1	131849308	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.691000	0.37721	2.826000	0.97356	0.655000	0.94253	.		0.537	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198	Intron	52	310	0	0	0	1	0	52	310				
ZNF443	10224	broad.mit.edu	37	19	12543223	12543223	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12543223T>G	ENST00000301547.5	-	3	356	c.159A>C	c.(157-159)gaA>gaC	p.E53D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATATTGATCTTCAATGTTCT	0.294																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(157-159)gaA>gaC		zinc finger protein 443							68.0	76.0	73.0					19																	12543223		2201	4292	6493	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12543223T>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.159A>C	19.37:g.12543223T>G	ENSP00000301547:p.Glu53Asp					CTD-3105H18.16_ENST00000595562.1_Intron	p.E53D	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			3	356	-			53			KRAB.			Missense_Mutation	SNP	ENST00000301547.5	37	c.159A>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336043	0.24253	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.00873	5.59	1.28	0.133	0.14766	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	L	0.39326	1.205	0.20638	N	0.999871	B	0.14012	0.009	B	0.13407	0.009	T	0.45101	-0.9284	9	0.31617	T	0.26	.	5.4506	0.16563	0.0:0.0:0.2877:0.7123	.	53	Q9Y2A4	ZN443_HUMAN	D	53	ENSP00000301547:E53D	ENSP00000301547:E53D	E	-	3	2	ZNF443	12404223	0.006000	0.16342	0.085000	0.20634	0.318000	0.28184	0.267000	0.18552	0.007000	0.14760	-0.827000	0.03088	GAA		0.294	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		18	154	0	0	0	1	0	18	154				
ZC3H4	23211	broad.mit.edu	37	19	47588377	47588377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47588377C>T	ENST00000253048.5	-	8	1080	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	348	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCTCCTCGGCTGCCACCTCG	0.597																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1042-1044)aGc>aAc		zinc finger CCCH-type containing 4							191.0	203.0	199.0					19																	47588377		2107	4204	6311	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47588377C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1043G>A	19.37:g.47588377C>T	ENSP00000253048:p.Ser348Asn					ZC3H4_ENST00000594019.1_Intron	p.S348N	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	8	1080	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	348			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1043G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721601	0.68959	.	.	ENSG00000130749	ENST00000253048	T	0.17691	2.26	5.97	5.97	0.96955	.	0.504809	0.23924	N	0.043218	T	0.12305	0.0299	N	0.22421	0.69	0.25133	N	0.990553	P	0.34462	0.454	B	0.26614	0.071	T	0.19386	-1.0307	10	0.28530	T	0.3	.	17.3508	0.87323	0.0:1.0:0.0:0.0	.	348	Q9UPT8	ZC3H4_HUMAN	N	348	ENSP00000253048:S348N	ENSP00000253048:S348N	S	-	2	0	ZC3H4	52280217	0.999000	0.42202	0.994000	0.49952	0.995000	0.86356	4.293000	0.59037	2.838000	0.97847	0.561000	0.74099	AGC		0.597	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			171	799	0	0	0	1	0	171	799				
POLR3E	55718	broad.mit.edu	37	16	22328345	22328345	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22328345G>T	ENST00000299853.5	+	11	925	c.758G>T	c.(757-759)aGc>aTc	p.S253I	POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I|POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	253					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ATGCCACCCAGCCAGGAGGAG	0.622																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(757-759)aGc>aTc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							98.0	97.0	97.0					16																	22328345		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22328345G>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.758G>T	16.37:g.22328345G>T	ENSP00000299853:p.Ser253Ile					POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I|POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I	p.S253I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	11	925	+			253					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.758G>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017760	0.35606	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.46063	0.88;0.88;0.88	5.22	2.89	0.33648	.	0.259797	0.45126	D	0.000383	T	0.26268	0.0641	N	0.11427	0.14	0.34833	D	0.739931	B;B;B;B;B;B	0.33883	0.43;0.43;0.229;0.191;0.143;0.376	B;B;B;B;B;B	0.37833	0.259;0.122;0.243;0.109;0.175;0.168	T	0.44726	-0.9309	10	0.87932	D	0	-11.3541	10.3174	0.43745	0.2381:0.0:0.7619:0.0	.	197;217;253;253;253;253	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	I	253;253;217	ENSP00000299853:S253I;ENSP00000352140:S253I;ENSP00000399254:S217I	ENSP00000299853:S253I	S	+	2	0	POLR3E	22235846	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	2.155000	0.42301	1.186000	0.42985	0.561000	0.74099	AGC		0.622	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		129	498	1	0	2.62243e-83	1	3.35764e-83	129	498				
PLEKHA4	57664	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(673-675)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							45.0	39.0	41.0					19																	49362745		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362745G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.673C>T	19.37:g.49362745G>A	ENSP00000263265:p.Arg225Trp					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1228	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	225			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.673C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	PLEKHA4	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG		0.637	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			40	172	0	0	0	1	0	40	172				
CTNNAL1	8727	broad.mit.edu	37	9	111761490	111761490	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111761490T>G	ENST00000325551.4	-	2	274	c.188A>C	c.(187-189)aAa>aCa	p.K63T	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.K63T	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	63					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTGCAGAGTTTTATCAGACTT	0.333																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(187-189)aAa>aCa		catenin (cadherin-associated protein), alpha-like 1							146.0	153.0	151.0					9																	111761490		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761490T>G	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.188A>C	9.37:g.111761490T>G	ENSP00000320434:p.Lys63Thr					CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.K63T	p.K63T			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	267	-			63					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.188A>C	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848949	0.71603	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.93	5.93	0.95920	.	0.106328	0.64402	D	0.000006	T	0.61324	0.2338	M	0.72894	2.215	0.49798	D	0.999823	D;P;D	0.69078	0.997;0.941;0.997	D;P;D	0.65874	0.939;0.818;0.939	T	0.60757	-0.7200	10	0.38643	T	0.18	-23.9731	14.336	0.66589	0.0:0.0:0.0:1.0	.	63;63;63	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	T	63	ENSP00000363723:K63T;ENSP00000320434:K63T;ENSP00000323351:K63T;ENSP00000363721:K63T	ENSP00000320434:K63T	K	-	2	0	CTNNAL1	110801311	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.818000	0.62657	2.258000	0.74832	0.533000	0.62120	AAA		0.333	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		124	655	0	0	0	1	0	124	655				
GALNT10	55568	broad.mit.edu	37	5	153709140	153709140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153709140G>A	ENST00000297107.6	+	4	547	c.410G>A	c.(409-411)aGc>aAc	p.S137N	GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	137					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGCTGCAACAGCAAGCGCTAC	0.572																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(409-411)aGc>aAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							149.0	114.0	126.0					5																	153709140		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153709140G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.410G>A	5.37:g.153709140G>A	ENSP00000297107:p.Ser137Asn					GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N|GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N|SAP30L-AS1_ENST00000519727.1_RNA	p.S137N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		4	547	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	137					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.410G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131167	0.21041	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59224	0.28;0.28;0.28	5.28	0.487	0.16842	.	0.370552	0.30840	N	0.008778	T	0.32010	0.0815	N	0.11892	0.195	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.06338	-1.0832	10	0.14656	T	0.56	.	9.373	0.38266	0.5571:0.0:0.4429:0.0	.	137;137;137	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	N	137	ENSP00000415210:S137N;ENSP00000297107:S137N;ENSP00000366889:S137N	ENSP00000297107:S137N	S	+	2	0	GALNT10	153689333	0.987000	0.35691	0.989000	0.46669	0.997000	0.91878	1.249000	0.32839	0.003000	0.14656	0.655000	0.94253	AGC		0.572	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		79	308	0	0	0	1	0	79	308				
RET	5979	broad.mit.edu	37	10	43613844	43613844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43613844C>T	ENST00000355710.3	+	13	2540	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R770*(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAGTGAGCTGCGAGACCTGCT	0.562		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	1	Substitution - Nonsense(1)	p.R770*(1)	large_intestine(1)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2308-2310)Cga>Tga		ret proto-oncogene	Sunitinib(DB01268)						52.0	49.0	50.0					10																	43613844		2203	4300	6503	SO:0001587	stop_gained	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43613844C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2308C>T	10.37:g.43613844C>T	ENSP00000347942:p.Arg770*					RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			13	2540	+		Ovarian(717;0.0423)	770			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Nonsense_Mutation	SNP	ENST00000355710.3	37	c.2308C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	41	8.586971	0.98875	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	.	.	.	5.58	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7699	0.78162	0.3268:0.6732:0.0:0.0	.	.	.	.	X	770	.	ENSP00000344798:R770X	R	+	1	2	RET	42933850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.493000	0.35605	1.324000	0.45282	0.655000	0.94253	CGA		0.562	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		25	144	0	0	0	1	0	25	144				
ICA1	3382	broad.mit.edu	37	7	8153658	8153658	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8153658G>T	ENST00000402384.3	-	14	1613	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	ICA1_ENST00000396675.3_Silent_p.A449A|ICA1_ENST00000265577.7_Silent_p.A448A|ICA1_ENST00000406470.2_Silent_p.A449A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000401396.1_Silent_p.A437A|ICA1_ENST00000422063.2_Silent_p.A478A			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	449					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAGGTCTGAGGCAGCCTTAG	0.532																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(1345-1347)gcC>gcA		islet cell autoantigen 1, 69kDa							116.0	107.0	110.0					7																	8153658		2203	4300	6503	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8153658G>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1347C>A	7.37:g.8153658G>T						ICA1_ENST00000265577.7_Silent_p.A448A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000406470.2_Silent_p.A449A|ICA1_ENST00000401396.1_Silent_p.A437A|ICA1_ENST00000396675.3_Silent_p.A449A|ICA1_ENST00000422063.2_Silent_p.A478A	p.A449A			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	14	1613	-		Ovarian(82;0.0612)	449					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.1347C>A	CCDS34602.1																																																																																				0.532	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		88	332	1	0	1.55023e-36	1	1.85648e-36	88	332				
ZMYM2	7750	broad.mit.edu	37	13	20625673	20625673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20625673G>A	ENST00000382874.2	+	14	2583	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H|ZMYM2_ENST00000382869.3_Missense_Mutation_p.R798H	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGCTTACTGCGTTTCTACTGT	0.398																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(2392-2394)cGt>cAt		zinc finger, MYM-type 2							117.0	118.0	118.0					13																	20625673		1919	4132	6051	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20625673G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2393G>A	13.37:g.20625673G>A	ENSP00000372327:p.Arg798His					ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382874.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382870.2_Missense_Mutation_p.R178H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H	p.R798H	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	13	2644	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	798					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.2393G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558110	0.65538	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T	0.46063	2.21;0.88	5.63	5.63	0.86233	TRASH (1);Zinc finger, MYM-type (1);	0.147068	0.64402	D	0.000014	T	0.59770	0.2218	L	0.47716	1.5	0.54753	D	0.999984	D	0.89917	1.0	D	0.70935	0.971	T	0.57207	-0.7851	10	0.49607	T	0.09	-6.5552	19.6626	0.95878	0.0:0.0:1.0:0.0	.	798	Q9UBW7	ZMYM2_HUMAN	H	798;798;796;796;280;176	ENSP00000372322:R798H;ENSP00000372336:R280H	ENSP00000372322:R798H	R	+	2	0	ZMYM2	19523673	1.000000	0.71417	0.952000	0.39060	0.862000	0.49288	5.016000	0.64041	2.643000	0.89663	0.655000	0.94253	CGT		0.398	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		53	170	0	0	0	1	0	53	170				
SPEM1	374768	broad.mit.edu	37	17	7323996	7323996	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323996T>C	ENST00000323675.3	+	2	220	c.195T>C	c.(193-195)atT>atC	p.I65I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	65					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ATGATACCATTTGTGAGAAAG	0.567																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(193-195)atT>atC		spermatid maturation 1							101.0	103.0	103.0					17																	7323996		1943	4133	6076	SO:0001819	synonymous_variant	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7323996T>C	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.195T>C	17.37:g.7323996T>C						RP11-104H15.7_ENST00000575310.1_RNA	p.I65I	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			2	220	+		Prostate(122;0.173)	65						Silent	SNP	ENST00000323675.3	37	c.195T>C	CCDS42254.1																																																																																				0.567	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		84	324	0	0	0	1	0	84	324				
IFT140	9742	broad.mit.edu	37	16	1573949	1573949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1573949G>A	ENST00000426508.2	-	25	3513	c.3150C>T	c.(3148-3150)ggC>ggT	p.G1050G	IFT140_ENST00000361339.5_Silent_p.G244G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1050					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTCGTCCAGGCCGTTCTCCT	0.662																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3148-3150)ggC>ggT		intraflagellar transport 140 homolog (Chlamydomonas)							54.0	48.0	50.0					16																	1573949		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1573949G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3150C>T	16.37:g.1573949G>A						IFT140_ENST00000361339.5_Silent_p.G244G	p.G1050G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			25	3513	-		Hepatocellular(780;0.219)	1050					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.3150C>T	CCDS10439.1																																																																																				0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		46	160	0	0	0	1	0	46	160				
ZNF71	58491	broad.mit.edu	37	19	57133136	57133136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133136G>A	ENST00000328070.6	+	3	715	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTTTGAGTGTGACACCTGTGG	0.597																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(481-483)Gac>Aac		zinc finger protein 71							53.0	54.0	54.0					19																	57133136		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133136G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.481G>A	19.37:g.57133136G>A	ENSP00000328245:p.Asp161Asn						p.D161N	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	715	+			161					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.481G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.005750	0.00426	.	.	ENSG00000197951	ENST00000328070	T	0.07327	3.2	3.7	-5.9	0.02275	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46911	-0.9157	9	0.02654	T	1	.	7.5589	0.27839	0.6047:0.2386:0.1567:0.0	.	161	Q9NQZ8	ZNF71_HUMAN	N	161	ENSP00000328245:D161N	ENSP00000328245:D161N	D	+	1	0	ZNF71	61824948	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-3.715000	0.00385	-1.111000	0.02988	-0.254000	0.11334	GAC		0.597	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		76	269	0	0	0	1	0	76	269				
PRSS1	5644	broad.mit.edu	37	7	142460283	142460283	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460283C>T	ENST00000311737.7	+	4	462	c.456C>T	c.(454-456)gcC>gcT	p.A152A	PRSS1_ENST00000486171.1_Splice_Site_p.A166A	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	152	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCCTCACAGCCGACTACCCAG	0.512																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.e5-1		protease, serine, 1 (trypsin 1)							250.0	251.0	251.0					7																	142460283		2203	4300	6503	SO:0001630	splice_region_variant	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460283C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.455-1C>T	7.37:g.142460283C>T						PRSS1_ENST00000311737.7_Splice_Site_p.A152_splice	p.A166_splice			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		5	515	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	152			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Splice_Site	SNP	ENST00000311737.7	37	c.496_splice	CCDS5872.1																																																																																				0.512	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		Silent	56	1483	0	0	0	1	0	56	1483				
TTN	7273	broad.mit.edu	37	2	179616447	179616447	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179616447A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Silent_p.H3560H			Q8WZ42	TITIN_HUMAN	titin						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)			TGGAAGAGTGATGGTGTAAAT	0.413																																						ENST00000360870.5																			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.(10678-10680)caT>caC		titin							76.0	78.0	77.0					2																	179616447		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616447A>G	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.10360+1403T>C	2.37:g.179616447A>G						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.H3560H	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10902	-			3558			Ig-like 21.		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.10680T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		98	446	0	0	0	1	0	98	446				
GABBR2	9568	broad.mit.edu	37	9	101304292	101304292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101304292C>T	ENST00000259455.2	-	3	952	c.493G>A	c.(493-495)Gat>Aat	p.D165N	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	165					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTTTCTTATCGGCTAGAACA	0.468																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(493-495)Gat>Aat		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						69.0	63.0	65.0					9																	101304292		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101304292C>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.493G>A	9.37:g.101304292C>T	ENSP00000259455:p.Asp165Asn					GABBR2_ENST00000477471.1_5'UTR	p.D165N	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			3	952	-		Acute lymphoblastic leukemia(62;0.0527)	165					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.493G>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004770	0.35320	.	.	ENSG00000136928	ENST00000259455	T	0.28069	1.63	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.052758	0.64402	D	0.000001	T	0.38585	0.1046	N	0.20304	0.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.08785	-1.0705	10	0.12766	T	0.61	.	16.6427	0.85130	0.0:1.0:0.0:0.0	.	165	O75899	GABR2_HUMAN	N	165	ENSP00000259455:D165N	ENSP00000259455:D165N	D	-	1	0	GABBR2	100344113	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.703000	0.84585	2.538000	0.85594	0.655000	0.94253	GAT		0.468	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			57	188	0	0	0	1	0	57	188				
SLC16A12	387700	broad.mit.edu	37	10	91195956	91195956	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91195956A>C	ENST00000341233.4	-	7	1449	c.1059T>G	c.(1057-1059)ttT>ttG	p.F353L	SLC16A12_ENST00000371790.4_Missense_Mutation_p.F383L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CAAAGTAGCCAAAGGTACAAG	0.502																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(1057-1059)ttT>ttG		solute carrier family 16, member 12							126.0	99.0	108.0					10																	91195956		2203	4300	6503	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91195956A>C		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1059T>G	10.37:g.91195956A>C	ENSP00000343022:p.Phe353Leu					SLC16A12_ENST00000371790.4_Missense_Mutation_p.F383L	p.F353L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			7	1449	-			353					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.1059T>G		.	.	.	.	.	.	.	.	.	.	A	22.2	4.252196	0.80135	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.11495	2.77;2.77	5.91	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057555	0.64402	D	0.000001	T	0.12987	0.0315	L	0.55017	1.72	0.48395	D	0.999646	P	0.44090	0.826	B	0.42462	0.388	T	0.06110	-1.0845	10	0.28530	T	0.3	.	11.1741	0.48588	0.9288:0.0:0.0712:0.0	.	353	Q6ZSM3	MOT12_HUMAN	L	353;383	ENSP00000343022:F353L;ENSP00000360855:F383L	ENSP00000343022:F353L	F	-	3	2	SLC16A12	91185936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.235000	0.51328	1.062000	0.40625	0.533000	0.62120	TTT		0.502	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		50	188	0	0	0	1	0	50	188				
MSL1	339287	broad.mit.edu	37	17	38282635	38282635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38282635G>A	ENST00000398532.4	+	2	1283	c.968G>A	c.(967-969)gGg>gAg	p.G323E	MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000577454.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	323					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TTCTCATGTGGGCGGAGTGGA	0.478																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(967-969)gGg>gAg		male-specific lethal 1 homolog (Drosophila)							64.0	65.0	65.0					17																	38282635		1939	4137	6076	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38282635G>A		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.968G>A	17.37:g.38282635G>A	ENSP00000381543:p.Gly323Glu					MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E|MSL1_ENST00000577454.1_Missense_Mutation_p.G323E	p.G323E			Q68DK7	MSL1_HUMAN			2	1283	+			323					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.968G>A		.	.	.	.	.	.	.	.	.	.	G	16.07	3.018305	0.54576	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.89	5.89	0.94794	.	0.136028	0.64402	D	0.000002	T	0.57961	0.2089	N	0.08118	0	0.50313	D	0.999862	D	0.71674	0.998	D	0.64321	0.924	T	0.60786	-0.7194	9	0.32370	T	0.25	-13.4448	19.8722	0.96854	0.0:0.0:1.0:0.0	.	323	Q68DK7	MSL1_HUMAN	E	60;323	.	ENSP00000341409:G60E	G	+	2	0	MSL1	35536161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.496000	0.73670	2.793000	0.96121	0.655000	0.94253	GGG		0.478	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		23	137	0	0	0	1	0	23	137				
OPA3	80207	broad.mit.edu	37	19	46087992	46087992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46087992G>T	ENST00000263275.4	-	1	85	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Missense_Mutation_p.L11M	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	11					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		AAGTATAGCAGCTTCGCCATA	0.622																																						ENST00000263275.4																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(31-33)Ctg>Atg		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							59.0	57.0	58.0					19																	46087992		2203	4300	6503	SO:0001583	missense	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46087992G>T	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.31C>A	19.37:g.46087992G>T	ENSP00000263275:p.Leu11Met					OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Missense_Mutation_p.L11M	p.L11M	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	1	85	-		Ovarian(192;0.051)|all_neural(266;0.112)	11					Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	c.31C>A	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323742	0.95708	.	.	ENSG00000125741	ENST00000323060;ENST00000263275	D;D	0.89875	-2.58;-2.58	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	D	0.96084	0.8724	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96565	0.9418	10	0.87932	D	0	0.0627	17.8364	0.88699	0.0:0.0:1.0:0.0	.	11;11	Q9H6K4;Q9H6K4-2	OPA3_HUMAN;.	M	11	ENSP00000319817:L11M;ENSP00000263275:L11M	ENSP00000263275:L11M	L	-	1	2	OPA3	50779832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.704000	0.68347	2.884000	0.98904	0.655000	0.94253	CTG		0.622	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			80	324	1	0	2.80266e-47	1	3.44898e-47	80	324				
C1orf127	148345	broad.mit.edu	37	1	11008344	11008344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11008344C>T	ENST00000377008.4	-	11	1793	c.1347G>A	c.(1345-1347)acG>acA	p.T449T	C1orf127_ENST00000377004.4_Silent_p.T616T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	449										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTCCAGAGCACGTTTCCTGGG	0.652																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(1846-1848)acG>acA		chromosome 1 open reading frame 127							59.0	68.0	65.0					1																	11008344		2203	4300	6503	SO:0001819	synonymous_variant	148345							g.chr1:11008344C>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1347G>A	1.37:g.11008344C>T						C1orf127_ENST00000377008.4_Silent_p.T449T	p.T616T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	12	1847	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	467					A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37	c.1848G>A		.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103869	0.06967	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.9	-6.74	0.01743	.	.	.	.	.	T	0.27798	0.0684	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-1.6694	8.9166	0.35585	0.0:0.5712:0.1442:0.2846	.	.	.	.	H	451;568	.	.	R	-	2	0	C1orf127	10930931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.274000	0.02820	-1.442000	0.01955	-1.855000	0.00564	CGT		0.652	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		48	554	0	0	0	1	0	48	554				
SMEK1	55671	broad.mit.edu	37	14	91937229	91937229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91937229G>A	ENST00000554943.1	-	10	1727	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	SMEK1_ENST00000554684.1_Missense_Mutation_p.R525W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W|SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	538					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGCACTCTCCGGAGGATATCC	0.358																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1573-1575)Cgg>Tgg		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							117.0	119.0	119.0					14																	91937229		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91937229G>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1612C>T	14.37:g.91937229G>A	ENSP00000450883:p.Arg538Trp					SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W|SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W|SMEK1_ENST00000554943.1_Missense_Mutation_p.R538W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W	p.R525W			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	10	2069	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	538					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1573C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.582799	0.86748	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.988;0.982;0.994	T	0.77408	-0.2599	10	0.72032	D	0.01	-7.1543	19.3334	0.94303	0.0:0.0:1.0:0.0	.	299;538;525	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	W	525;525;299;538;299;525	ENSP00000450864:R525W;ENSP00000337125:R525W;ENSP00000392704:R299W;ENSP00000450883:R538W;ENSP00000450891:R299W;ENSP00000452596:R525W	ENSP00000337125:R525W	R	-	1	2	SMEK1	91006982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.290000	0.65661	2.567000	0.86603	0.557000	0.71058	CGG		0.358	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		70	325	0	0	0	1	0	70	325				
STXBP5L	9515	broad.mit.edu	37	3	121137938	121137938	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121137938A>C	ENST00000273666.6	+	28	3826	c.3555A>C	c.(3553-3555)caA>caC	p.Q1185H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1185					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATGGTACCAATTCTGACTTC	0.368																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3553-3555)caA>caC		syntaxin binding protein 5-like							135.0	128.0	130.0					3																	121137938		1827	4087	5914	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121137938A>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3555A>C	3.37:g.121137938A>C	ENSP00000273666:p.Gln1185His					STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	p.Q1185H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	28	3826	+			1185					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.3555A>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443462	0.63067	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.30714	1.52;1.53;1.57	5.84	2.25	0.28309	.	0.054083	0.85682	D	0.000000	T	0.51975	0.1706	M	0.82323	2.585	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.50915	-0.8771	10	0.87932	D	0	-9.0245	6.5322	0.22334	0.4146:0.0:0.5854:0.0	.	1161;1185	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	1185;1161;1128	ENSP00000273666:Q1185H;ENSP00000420019:Q1161H;ENSP00000420167:Q1128H	ENSP00000273666:Q1185H	Q	+	3	2	STXBP5L	122620628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.832000	0.48152	0.498000	0.27948	0.459000	0.35465	CAA		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			76	319	0	0	0	1	0	76	319				
SNRNP70	6625	broad.mit.edu	37	19	49611533	49611533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49611533C>T	ENST00000598441.1	+	10	1371	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R374W			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	383	Arg/Asp/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						acggggggagcggggcagtga	0.721																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(1120-1122)Cgg>Tgg		small nuclear ribonucleoprotein 70kDa (U1)							8.0	13.0	11.0					19																	49611533		2169	4257	6426	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49611533C>T		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.1147C>T	19.37:g.49611533C>T	ENSP00000472998:p.Arg383Trp					SNRNP70_ENST00000598441.1_Missense_Mutation_p.R383W	p.R374W	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			10	1316	+			383			Arg/Asp/Glu-rich (mixed charge).		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.1120C>T	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408900	0.42715	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	.	.	.	3.54	2.47	0.30058	.	0.000000	0.64402	U	0.000002	T	0.53270	0.1786	N	0.24115	0.695	0.51482	D	0.99992	D;D	0.89917	0.999;1.0	D;P	0.64321	0.924;0.846	T	0.55970	-0.8056	9	0.72032	D	0.01	-5.0902	10.7043	0.45946	0.0:0.8034:0.1966:0.0	.	383;374	P08621;P08621-2	RU17_HUMAN;.	W	383;287	.	ENSP00000221448:R383W	R	+	1	2	SNRNP70	54303345	0.944000	0.32072	1.000000	0.80357	0.735000	0.41995	1.292000	0.33342	0.809000	0.34255	-0.499000	0.04595	CGG		0.721	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		5	53	0	0	0	1	0	5	53				
TRAFD1	10906	broad.mit.edu	37	12	112579955	112579955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112579955G>T	ENST00000257604.5	+	6	1323	c.706G>T	c.(706-708)Gag>Tag	p.E236*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	236					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGGTGGTGAAGAGAGTGCAAA	0.488																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(706-708)Gag>Tag		TRAF-type zinc finger domain containing 1							99.0	103.0	101.0					12																	112579955		2203	4300	6503	SO:0001587	stop_gained	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112579955G>T	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.706G>T	12.37:g.112579955G>T	ENSP00000257604:p.Glu236*					TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	p.E236*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			6	1323	+			236					A8K5L6|B4DI89	Nonsense_Mutation	SNP	ENST00000257604.5	37	c.706G>T	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927562	0.73327	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896;ENST00000548277	.	.	.	5.4	4.5	0.54988	.	0.524979	0.20233	N	0.096455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.2931	7.5553	0.27820	0.0927:0.2192:0.6881:0.0	.	.	.	.	X	236;236;236;30	.	ENSP00000257604:E236X	E	+	1	0	TRAFD1	111064338	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	2.653000	0.46691	1.261000	0.44149	0.467000	0.42956	GAG		0.488	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		84	278	1	0	7.63117e-38	1	9.17446e-38	84	278				
ALG3	10195	broad.mit.edu	37	3	183962463	183962463	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183962463A>G	ENST00000397676.3	-	5	682	c.652T>C	c.(652-654)Tta>Cta	p.L218L	ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Silent_p.L162L|ALG3_ENST00000445626.2_Silent_p.L170L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Silent_p.L178L	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	218					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAACAGTAACCCAGGGGCG	0.587																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(532-534)Tta>Cta		ALG3, alpha-1,3- mannosyltransferase							55.0	58.0	57.0					3																	183962463		2060	4196	6256	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183962463A>G	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.652T>C	3.37:g.183962463A>G						EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Silent_p.L218L|ALG3_ENST00000418734.2_Silent_p.L162L|ALG3_ENST00000445626.2_Silent_p.L170L	p.L178L			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	986	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		218					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.532T>C	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870045	0.17322	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.26	0.239	0.15484	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.46638	-0.9177	4	.	.	.	-4.4585	8.2378	0.31636	0.5004:0.0:0.4996:0.0	.	.	.	.	A	121	.	.	V	-	2	0	ALG3	185445157	0.970000	0.33590	0.011000	0.14972	0.995000	0.86356	2.013000	0.40942	0.045000	0.15804	0.379000	0.24179	GTT		0.587	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		17	67	0	0	0	1	0	17	67				
MYH4	4622	broad.mit.edu	37	17	10360803	10360803	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10360803G>A	ENST00000255381.2	-	16	1941	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	611	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGGTACAGCCCCACCACA	0.512																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1831-1833)Ctg>Ttg		myosin, heavy chain 4, skeletal muscle							86.0	84.0	85.0					17																	10360803		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360803G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1831C>T	17.37:g.10360803G>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.L611L	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			16	1941	-			611			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1831C>T	CCDS11154.1																																																																																				0.512	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		99	369	0	0	0	1	0	99	369				
ROBO3	64221	broad.mit.edu	37	11	124738946	124738946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124738946G>A	ENST00000397801.1	+	2	601	c.409G>A	c.(409-411)Gac>Aac	p.D137N	ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	137	Ig-like C2-type 1.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGCGCGGCCGGACGAAGGTGT	0.687																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(409-411)Gac>Aac		roundabout, axon guidance receptor, homolog 3 (Drosophila)							11.0	14.0	13.0					11																	124738946		1920	4110	6030	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124738946G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.409G>A	11.37:g.124738946G>A	ENSP00000380903:p.Asp137Asn					ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	p.D137N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	2	601	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	137			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000397801.1	37	c.409G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	36	5.791849	0.96945	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.80994	-1.44;-1.44	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000579	D	0.91791	0.7403	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93877	0.7167	10	0.87932	D	0	.	17.2808	0.87128	0.0:0.0:1.0:0.0	.	137	Q96MS0	ROBO3_HUMAN	N	137;115	ENSP00000380903:D137N;ENSP00000441797:D115N	ENSP00000380903:D137N	D	+	1	0	ROBO3	124244156	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.801000	0.99128	2.171000	0.68590	0.462000	0.41574	GAC		0.687	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		11	63	0	0	0	1	0	11	63				
TJP3	27134	broad.mit.edu	37	19	3735569	3735569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3735569G>A	ENST00000541714.2	+	9	1454	c.992G>A	c.(991-993)aGt>aAt	p.S331N	TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000382008.3_Missense_Mutation_p.S345N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N|TJP3_ENST00000589378.1_Missense_Mutation_p.S340N|TJP3_ENST00000587686.1_Missense_Mutation_p.S350N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	331					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGGAGAGTCCCCGGCTT	0.552																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(991-993)aGt>aAt		tight junction protein 3							92.0	102.0	98.0					19																	3735569		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3735569G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.992G>A	19.37:g.3735569G>A	ENSP00000439278:p.Ser331Asn					TJP3_ENST00000382008.3_Missense_Mutation_p.S345N|TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000587686.1_Missense_Mutation_p.S350N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N|TJP3_ENST00000589378.1_Missense_Mutation_p.S340N	p.S331N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1454	+			345					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.992G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794754	0.02862	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09255	3.0;3.15;3.04;3.13	3.35	1.06	0.20224	.	1.018930	0.07818	N	0.959273	T	0.08891	0.0220	L	0.29908	0.895	0.24971	N	0.991662	B;B;B;B	0.12630	0.003;0.006;0.003;0.003	B;B;B;B	0.16289	0.005;0.015;0.004;0.005	T	0.39482	-0.9612	10	0.30854	T	0.27	.	9.3428	0.38089	0.0:0.4549:0.5451:0.0	.	350;364;345;331	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	N	331;295;345;364	ENSP00000439278:S331N;ENSP00000439991:S295N;ENSP00000371438:S345N;ENSP00000262968:S364N	ENSP00000262968:S364N	S	+	2	0	TJP3	3686569	0.854000	0.29725	0.539000	0.28077	0.153000	0.21895	1.145000	0.31577	0.377000	0.24735	0.511000	0.50034	AGT		0.552	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			22	784	0	0	0	1	0	22	784				
PRDM7	11105	broad.mit.edu	37	16	90160955	90160955	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90160955G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TACGTGCCTCGCGCTGTGCTC	0.701																																						ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90160955G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160955G>A	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	894	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.701	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			39	453	0	0	0	1	0	39	453				
FCGBP	8857	broad.mit.edu	37	19	40411738	40411738	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40411738T>C	ENST00000221347.6	-	7	3897	c.3890A>G	c.(3889-3891)aAc>aGc	p.N1297S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1297	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGCCACGTTCTCCTGCAG	0.637																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3889-3891)aAc>aGc		Fc fragment of IgG binding protein							56.0	56.0	56.0					19																	40411738		2202	4276	6478	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411738T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3890A>G	19.37:g.40411738T>C	ENSP00000221347:p.Asn1297Ser						p.N1297S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3897	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1297			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3890A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235974	0.58886	.	.	ENSG00000090920	ENST00000221347	T	0.59638	0.25	4.54	4.54	0.55810	von Willebrand factor, type D domain (3);	0.060710	0.64402	D	0.000007	T	0.73783	0.3631	M	0.84156	2.68	0.37472	D	0.915654	D	0.89917	1.0	D	0.87578	0.998	T	0.75207	-0.3399	10	0.12766	T	0.61	.	12.9805	0.58562	0.0:0.0:0.0:1.0	.	1297	Q9Y6R7	FCGBP_HUMAN	S	1297	ENSP00000221347:N1297S	ENSP00000221347:N1297S	N	-	2	0	FCGBP	45103578	1.000000	0.71417	0.879000	0.34478	0.915000	0.54546	7.407000	0.80029	1.917000	0.55516	0.358000	0.22013	AAC		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		84	449	0	0	0	1	0	84	449				
LGALS3BP	3959	broad.mit.edu	37	17	76967886	76967886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76967886G>A	ENST00000262776.3	-	6	1838	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	510					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GATCTGAGCCGCCAGACTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1528-1530)ggC>ggT		lectin, galactoside-binding, soluble, 3 binding protein							52.0	47.0	49.0					17																	76967886		2203	4300	6503	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967886G>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1530C>T	17.37:g.76967886G>A			OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.G510G	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1838	-			510					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.1530C>T	CCDS11759.1																																																																																				0.612	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		43	175	0	0	0	1	0	43	175				
ZNF814	730051	broad.mit.edu	37	19	58384364	58384364	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58384364C>T	ENST00000435989.2	-	3	2628	c.2394G>A	c.(2392-2394)aaG>aaA	p.K798K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	798					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTCATAAGGCTTTTCTCCAG	0.403																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(2392-2394)aaG>aaA		zinc finger protein 814							81.0	70.0	74.0					19																	58384364		692	1591	2283	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384364C>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2394G>A	19.37:g.58384364C>T						ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	p.K798K	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	2628	-			798					A6NF35	Silent	SNP	ENST00000435989.2	37	c.2394G>A	CCDS46212.1																																																																																				0.403	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		7	248	0	0	0	1	0	7	248				
ZMIZ2	83637	broad.mit.edu	37	7	44807123	44807123	+	Silent	SNP	G	G	A	rs558877764	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44807123G>A	ENST00000309315.4	+	19	2787	c.2664G>A	c.(2662-2664)ccG>ccA	p.P888P	ZMIZ2_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000433667.1_Silent_p.P856P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	888	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTGCTCCCGGAACTGACCA	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.002				NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2662-2664)ccG>ccA		zinc finger, MIZ-type containing 2							126.0	140.0	136.0					7																	44807123		2054	4196	6250	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44807123G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2664G>A	7.37:g.44807123G>A						ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000433667.1_Silent_p.P856P|ZMIZ2_ENST00000463931.1_3'UTR	p.P888P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			19	2787	+			888			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2664G>A	CCDS43576.1																																																																																				0.542	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		37	221	0	0	0	1	0	37	221				
ATP11A	23250	broad.mit.edu	37	13	113439559	113439559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113439559C>T	ENST00000487903.1	+	2	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_ENST00000375630.2_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	50					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACAACAGGATCGTCTCGTCCA	0.552																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(148-150)atC>atT		ATPase, class VI, type 11A							160.0	148.0	152.0					13																	113439559		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113439559C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.150C>T	13.37:g.113439559C>T						ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I|ATP11A_ENST00000375630.2_Silent_p.I50I	p.I50I			P98196	AT11A_HUMAN			2	238	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	50					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.150C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404897	0.11754	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-4.63	0.03359	.	.	.	.	.	T	0.48169	0.1485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	4	.	.	.	.	6.8484	0.24000	0.4604:0.3299:0.0:0.2097	.	.	.	.	L	25	.	.	S	+	2	0	ATP11A	112487560	0.684000	0.27642	0.737000	0.30932	0.497000	0.33675	-0.285000	0.08410	-0.864000	0.04078	-0.857000	0.03018	TCG		0.552	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		50	366	0	0	0	1	0	50	366				
MYBL2	4605	broad.mit.edu	37	20	42340139	42340139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42340139G>A	ENST00000217026.4	+	11	1744	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	MYBL2_ENST00000396863.4_Silent_p.P515P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	539					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAGACCCCGCACCTGGAGG	0.627																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1615-1617)ccG>ccA		v-myb avian myeloblastosis viral oncogene homolog-like 2							54.0	45.0	48.0					20																	42340139		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42340139G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1617G>A	20.37:g.42340139G>A						MYBL2_ENST00000396863.4_Silent_p.P515P	p.P539P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1744	+		Myeloproliferative disorder(115;0.00452)	539					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.1617G>A	CCDS13322.1																																																																																				0.627	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		15	88	0	0	0	1	0	15	88				
PPP2R3B	28227	broad.mit.edu	37	X	301612	301612	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:301612G>A	ENST00000390665.3	-	10	1257	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	413	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAAGTACTCGAGCTCGAACA	0.652													g|||	10	0.00199681	0.0076	0.0	5008	,	,		14355	0.0		0.0	False		,,,				2504	0.0					ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(1237-1239)ctC>ctT		protein phosphatase 2, regulatory subunit B'', beta				32,4358		0,32,2163	142.0	104.0	117.0		1239	-0.8	1.0	X	dbSNP_134	117	0,8576		0,0,4288	no	coding-synonymous	PPP2R3B	NM_013239.4		0,32,6451	AA,AG,GG		0.0,0.7289,0.2468		413/576	301612	32,12934	2195	4288	6483	SO:0001819	synonymous_variant	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:301612G>A	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1239C>T	X.37:g.301612G>A							p.L413L	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			10	1257	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	413			EF-hand.		Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	c.1239C>T	CCDS14104.1																																																																																				0.652	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		9	277	0	0	0	1	0	9	277				
MUC5B	727897	broad.mit.edu	37	11	1270821	1270821	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1270821G>A	ENST00000529681.1	+	31	12769	c.12711G>A	c.(12709-12711)acG>acA	p.T4237T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T4240T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4237	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCTCTACGGCCATGCCCT	0.607																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(12718-12720)acG>acA		mucin 5B, oligomeric mucus/gel-forming							52.0	58.0	56.0					11																	1270821		1869	4061	5930	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270821G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12711G>A	11.37:g.1270821G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T4237T	p.T4240T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	12778	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4237			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.12720G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	2.339	-0.351471	0.05173	.	.	ENSG00000117983	ENST00000535652	.	.	.	2.04	-0.63	0.11530	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	5	0.11182	T	0.66	.	5.9617	0.19303	0.1572:0.2557:0.587:0.0	.	.	.	.	Q	17	.	ENSP00000439776:R17Q	R	+	2	0	MUC5B	1227397	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.433000	0.02428	0.114000	0.18032	0.393000	0.25936	CGG		0.607	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		137	632	0	0	0	1	0	137	632				
TRPM5	29850	broad.mit.edu	37	11	2432869	2432869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2432869C>T	ENST00000155858.6	-	17	2611	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TRPM5_ENST00000452833.1_Missense_Mutation_p.R870H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCACCATGCGCTCTACCAC	0.662																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2608-2610)cGc>cAc		transient receptor potential cation channel, subfamily M, member 5							60.0	63.0	62.0					11																	2432869		2202	4299	6501	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432869C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2603G>A	11.37:g.2432869C>T	ENSP00000155858:p.Arg868His					TRPM5_ENST00000155858.6_Missense_Mutation_p.R868H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H	p.R870H			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	17	2617	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	868						Missense_Mutation	SNP	ENST00000155858.6	37	c.2609G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662312	0.67700	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	3.88	3.88	0.44766	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	L	0.58669	1.825	0.46203	D	0.998928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.99	T	0.80111	-0.1519	10	0.87932	D	0	-17.9194	9.5894	0.39537	0.0:0.8985:0.0:0.1015	.	868;870;868	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	862;868;870;868;868;868	ENSP00000434383:R862H;ENSP00000155858:R868H;ENSP00000387965:R870H;ENSP00000434121:R868H;ENSP00000436809:R868H	ENSP00000155858:R868H	R	-	2	0	TRPM5	2389445	0.974000	0.33945	0.946000	0.38457	0.592000	0.36648	3.638000	0.54332	2.120000	0.65058	0.491000	0.48974	CGC		0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		74	374	0	0	0	1	0	74	374				
DMXL2	23312	broad.mit.edu	37	15	51772901	51772901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51772901C>T	ENST00000251076.5	-	24	6689	c.6402G>A	c.(6400-6402)ttG>ttA	p.L2134L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L1498L|DMXL2_ENST00000543779.2_Silent_p.L2134L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2134						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTTGGCCTGCAATCTTCTTC	0.448																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(6400-6402)ttG>ttA		Dmx-like 2							137.0	129.0	131.0					15																	51772901		2196	4293	6489	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772901C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6402G>A	15.37:g.51772901C>T						RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.L2134L|DMXL2_ENST00000449909.3_Silent_p.L1498L	p.L2134L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6689	-			2134					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.6402G>A	CCDS10141.1																																																																																				0.448	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		128	578	0	0	0	1	0	128	578				
PSD4	23550	broad.mit.edu	37	2	113940800	113940800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940800G>A	ENST00000245796.6	+	2	962	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	PSD4_ENST00000441564.3_Missense_Mutation_p.C256Y	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGTCCTTGCTCAGAGAAC	0.597																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(766-768)tGc>tAc		pleckstrin and Sec7 domain containing 4							93.0	93.0	93.0					2																	113940800		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940800G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.767G>A	2.37:g.113940800G>A	ENSP00000245796:p.Cys256Tyr					PSD4_ENST00000441564.2_Missense_Mutation_p.C256Y	p.C256Y	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	962	+			256					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.767G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623347	0.28889	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09911	2.96;2.93	5.83	-3.81	0.04294	.	0.734366	0.13127	N	0.411733	T	0.05547	0.0146	L	0.29908	0.895	0.23361	N	0.997835	B;B	0.17667	0.023;0.013	B;B	0.20384	0.029;0.013	T	0.39187	-0.9626	9	.	.	.	.	2.9831	0.05960	0.2146:0.3227:0.3571:0.1056	.	256;256	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	Y	256	ENSP00000245796:C256Y;ENSP00000413997:C256Y	.	C	+	2	0	PSD4	113657271	0.000000	0.05858	0.470000	0.27216	0.678000	0.39670	-1.117000	0.03283	-0.380000	0.07894	-0.964000	0.02622	TGC		0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		91	402	0	0	0	1	0	91	402				
TTI1	9675	broad.mit.edu	37	20	36640284	36640284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36640284G>T	ENST00000373448.2	-	3	2173	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	TTI1_ENST00000373447.3_Missense_Mutation_p.F645L|TTI1_ENST00000449821.1_Missense_Mutation_p.F645L|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	645					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGAGCAAACAGAAGTCTTTTC	0.458																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1933-1935)ttC>ttA		TELO2 interacting protein 1							106.0	104.0	104.0					20																	36640284		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640284G>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1935C>A	20.37:g.36640284G>T	ENSP00000362547:p.Phe645Leu					TTI1_ENST00000373447.3_Missense_Mutation_p.F645L|TTI1_ENST00000449821.1_Missense_Mutation_p.F645L|TTI1_ENST00000487362.1_5'UTR	p.F645L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2173	-			645					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1935C>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173788	0.57692	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.63580	-0.05;-0.05;-0.05	5.23	-7.02	0.01589	Armadillo-type fold (1);	0.093144	0.85682	D	0.000000	T	0.75649	0.3878	M	0.77103	2.36	0.50313	D	0.999869	D	0.89917	1.0	D	0.87578	0.998	T	0.80390	-0.1402	10	0.66056	D	0.02	-9.5875	19.6634	0.95882	0.2446:0.0:0.7554:0.0	.	645	O43156	TTI1_HUMAN	L	645	ENSP00000362547:F645L;ENSP00000362546:F645L;ENSP00000407270:F645L	ENSP00000362546:F645L	F	-	3	2	TTI1	36073698	0.959000	0.32827	0.597000	0.28824	0.951000	0.60555	-0.060000	0.11712	-1.372000	0.02137	-0.302000	0.09304	TTC		0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		100	430	1	0	9.62396e-42	1	1.17021e-41	100	430				
NCKAP1	10787	broad.mit.edu	37	2	183850942	183850942	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183850942T>C	ENST00000361354.4	-	10	1333	c.961A>G	c.(961-963)Att>Gtt	p.I321V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I327V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	321					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGTCATTAATACGTTTATTA	0.313																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(979-981)Att>Gtt		NCK-associated protein 1							61.0	62.0	62.0					2																	183850942		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183850942T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.961A>G	2.37:g.183850942T>C	ENSP00000355348:p.Ile321Val					NCKAP1_ENST00000361354.3_Missense_Mutation_p.I321V	p.I327V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		11	1737	-			321					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.979A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	9.687	1.150960	0.21371	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.51	5.51	0.81932	.	0.045134	0.85682	D	0.000000	T	0.17323	0.0416	N	0.13327	0.33	0.58432	D	0.999997	B;B	0.18166	0.026;0.012	B;B	0.17979	0.02;0.012	T	0.06023	-1.0850	10	0.05721	T	0.95	-12.7699	14.7984	0.69894	0.0:0.0:0.0:1.0	.	321;327	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	321;327	ENSP00000355348:I321V;ENSP00000354251:I327V	ENSP00000354251:I327V	I	-	1	0	NCKAP1	183559187	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.654000	0.61469	2.106000	0.64143	0.402000	0.26972	ATT		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		32	156	0	0	0	1	0	32	156				
COX15	1355	broad.mit.edu	37	10	101487261	101487261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101487261G>A	ENST00000016171.5	-	3	382	c.332C>T	c.(331-333)cCt>cTt	p.P111L	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.P111L			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	111					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTGGCTTGTAGGTGGCTTCAT	0.403																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(331-333)cCt>cTt		cytochrome c oxidase assembly homolog 15 (yeast)							189.0	188.0	188.0					10																	101487261		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101487261G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.332C>T	10.37:g.101487261G>A	ENSP00000016171:p.Pro111Leu					COX15_ENST00000016171.5_Missense_Mutation_p.P111L|CUTC_ENST00000493385.1_Intron	p.P111L	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	3	382	-		Colorectal(252;0.234)	111					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.332C>T	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316166	0.81469	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.87809	-2.3;-2.3	4.49	3.58	0.41010	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96657	0.9486	10	0.87932	D	0	-7.3348	13.0498	0.58948	0.0787:0.0:0.9213:0.0	.	111;111	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	L	111	ENSP00000359514:P111L;ENSP00000016171:P111L	ENSP00000016171:P111L	P	-	2	0	COX15	101477251	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.217000	0.77982	1.259000	0.44117	0.563000	0.77884	CCT		0.403	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		20	473	0	0	0	1	0	20	473				
PHF2	5253	broad.mit.edu	37	9	96425295	96425295	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96425295A>G	ENST00000359246.4	+	13	2172	c.1805A>G	c.(1804-1806)aAg>aGg	p.K602R	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	602	Lys-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCAGAGGCCAAGTGGAAGTAC	0.502																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1804-1806)aAg>aGg		PHD finger protein 2							130.0	109.0	116.0					9																	96425295		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96425295A>G	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1805A>G	9.37:g.96425295A>G	ENSP00000352185:p.Lys602Arg					PHF2_ENST00000375376.4_Intron	p.K602R	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	13	2172	+		Myeloproliferative disorder(762;0.0255)	602			Lys-rich.		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1805A>G	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	a	13.00	2.107668	0.37242	.	.	ENSG00000197724	ENST00000359246	T	0.20200	2.09	3.99	3.99	0.46301	.	0.050265	0.85682	D	0.000000	T	0.15478	0.0373	L	0.42245	1.32	0.80722	D	1	B;P	0.38922	0.023;0.651	B;B	0.30401	0.015;0.115	T	0.07121	-1.0789	10	0.23302	T	0.38	-18.2991	13.0498	0.58948	1.0:0.0:0.0:0.0	.	20;602	Q8N359;O75151	.;PHF2_HUMAN	R	602	ENSP00000352185:K602R	ENSP00000352185:K602R	K	+	2	0	PHF2	95465116	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.247000	0.89830	1.670000	0.50864	0.248000	0.18094	AAG		0.502	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		7	247	0	0	0	1	0	7	247				
SULT2A1	6822	broad.mit.edu	37	19	48382317	48382317	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48382317T>C	ENST00000222002.3	-	4	682	c.543A>G	c.(541-543)ttA>ttG	p.L181L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CATAACTCAGTAACAGGAAGT	0.463																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(541-543)ttA>ttG		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							201.0	197.0	198.0					19																	48382317		2203	4300	6503	SO:0001819	synonymous_variant	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48382317T>C	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.543A>G	19.37:g.48382317T>C							p.L181L	NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	4	682	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	181						Silent	SNP	ENST00000222002.3	37	c.543A>G	CCDS12707.1																																																																																				0.463	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		148	669	0	0	0	1	0	148	669				
RMDN3	55177	broad.mit.edu	37	15	41029390	41029390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41029390G>A	ENST00000260385.6	-	11	2358	c.1291C>T	c.(1291-1293)Cta>Tta	p.L431L	RMDN3_ENST00000558560.1_5'Flank|RMDN3_ENST00000338376.3_Silent_p.L431L			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	431					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TTTTTCCCTAGTTCTCTGTAG	0.448																																						ENST00000260385.6																			0											c.(1291-1293)Cta>Tta		regulator of microtubule dynamics 3							197.0	196.0	197.0					15																	41029390		2203	4300	6503	SO:0001819	synonymous_variant	55177							g.chr15:41029390G>A	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1291C>T	15.37:g.41029390G>A						RMDN3_ENST00000338376.3_Silent_p.L431L	p.L431L							11	2358	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Silent	SNP	ENST00000260385.6	37	c.1291C>T	CCDS10063.1																																																																																				0.448	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		217	981	0	0	0	1	0	217	981				
AADACL2	344752	broad.mit.edu	37	3	151463297	151463297	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151463297C>T	ENST00000356517.3	+	4	541	c.432C>T	c.(430-432)gaC>gaT	p.D144D		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	144						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTTTAAAGCTATAGGCTGG	0.343																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.e4-1		arylacetamide deacetylase-like 2							137.0	152.0	147.0					3																	151463297		2203	4299	6502	SO:0001630	splice_region_variant	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151463297C>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.432-1C>T	3.37:g.151463297C>T							p.D144_splice	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	541	+			144					Q5HYJ4	Splice_Site	SNP	ENST00000356517.3	37	c.431_splice	CCDS3161.2																																																																																				0.343	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365	Silent	23	1205	0	0	0	1	0	23	1205				
SPATA31A6	389730	broad.mit.edu	37	9	43627680	43627680	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:43627680G>A	ENST00000332857.6	-	4	1035	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	336					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTTGACCTTGGCTGTTTCTGT	0.443																																						ENST00000332857.6																			0											c.(1006-1008)gCc>gTc		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627680		24	140	164	SO:0001583	missense	389730							g.chr9:43627680G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1007C>T	9.37:g.43627680G>A	ENSP00000329825:p.Ala336Val						p.A336V	NM_001145196.1	NP_001138668.1					4	1035	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1007C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.892611	0.00522	.	.	ENSG00000185775	ENST00000332857	T	0.03330	3.97	1.79	-0.573	0.11742	.	1.722080	0.03443	N	0.209565	T	0.02649	0.0080	N	0.17594	0.5	0.09310	N	1	B	0.17852	0.024	B	0.17722	0.019	T	0.44636	-0.9315	10	0.17369	T	0.5	0.0186	4.0945	0.09985	0.5815:0.0:0.4185:0.0	.	336	Q5VVP1	F75A6_HUMAN	V	336	ENSP00000329825:A336V	ENSP00000329825:A336V	A	-	2	0	FAM75A6	43567676	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.534000	0.06150	-0.139000	0.11414	0.298000	0.19748	GCC		0.443	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		40	561	0	0	0	1	0	40	561				
LZTR1	8216	broad.mit.edu	37	22	21345925	21345925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21345925G>A	ENST00000215739.8	+	9	1159	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	267					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R267H(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGTGGACACGCATCCCAACT	0.652																																						ENST00000215739.8																			2	Substitution - Missense(2)	p.R267H(2)	upper_aerodigestive_tract(1)|large_intestine(1)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(799-801)cGc>cAc		leucine-zipper-like transcription regulator 1							35.0	26.0	29.0					22																	21345925		2202	4292	6494	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21345925G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.800G>A	22.37:g.21345925G>A	ENSP00000215739:p.Arg267His					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H	p.R267H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	1159	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	267					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.800G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136480	0.94517	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67698	-0.28;-0.28	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.053822	0.85682	D	0.000000	T	0.81230	0.4779	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.74023	0.957;0.982;0.947;0.904	D	0.83501	0.0075	10	0.72032	D	0.01	-35.8024	16.1666	0.81759	0.0:0.0:1.0:0.0	.	248;226;267;226	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	226;267;248	ENSP00000215739:R267H;ENSP00000374006:R248H	ENSP00000215739:R267H	R	+	2	0	LZTR1	19675925	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.621000	0.83083	2.409000	0.81822	0.407000	0.27541	CGC		0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		8	61	0	0	0	1	0	8	61				
BTAF1	9044	broad.mit.edu	37	10	93695422	93695422	+	Missense_Mutation	SNP	G	G	A	rs200229615		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93695422G>A	ENST00000265990.6	+	2	331	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	8					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R8H(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGGCTAGATCGCCTTTTTATT	0.378																																						ENST00000265990.6																			1	Substitution - Missense(1)	p.R8H(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(22-24)cGc>cAc		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							160.0	138.0	146.0					10																	93695422		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93695422G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.23G>A	10.37:g.93695422G>A	ENSP00000265990:p.Arg8His						p.R8H	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			2	331	+		Colorectal(252;0.0846)	8					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.23G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241089	0.95272	.	.	ENSG00000095564	ENST00000265990	T	0.66280	-0.2	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87125	0.2193	10	0.87932	D	0	0.8706	18.9257	0.92544	0.0:0.0:1.0:0.0	.	8	O14981	BTAF1_HUMAN	H	8	ENSP00000265990:R8H	ENSP00000265990:R8H	R	+	2	0	BTAF1	93685402	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.757000	0.98924	2.537000	0.85549	0.655000	0.94253	CGC		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		62	201	0	0	0	1	0	62	201				
CD4	920	broad.mit.edu	37	12	6928490	6928490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6928490A>G	ENST00000011653.4	+	10	1630	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	GPR162_ENST00000311268.3_5'Flank|GPR162_ENST00000428545.2_5'Flank|GPR162_ENST00000382315.3_5'Flank	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	458					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ATGTAGCCCCATTTGAGGCAC	0.597																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(1372-1374)Att>Gtt		CD4 molecule							173.0	150.0	158.0					12																	6928490		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6928490A>G	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1372A>G	12.37:g.6928490A>G	ENSP00000011653:p.Ile458Val						p.I458V	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			10	1630	+		Myeloproliferative disorder(1001;0.0122)	458					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.1372A>G	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.832811	0.50951	.	.	ENSG00000010610	ENST00000011653	T	0.22743	1.94	3.95	-3.52	0.04682	.	1.485190	0.04117	N	0.315664	T	0.18841	0.0452	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.22800	0.075;0.075	B;B	0.19666	0.011;0.026	T	0.41627	-0.9498	10	0.62326	D	0.03	-16.945	8.6422	0.33983	0.2449:0.6549:0.1002:0.0	.	279;458	B0AZV7;P01730	.;CD4_HUMAN	V	458	ENSP00000011653:I458V	ENSP00000011653:I458V	I	+	1	0	CD4	6798751	0.009000	0.17119	0.000000	0.03702	0.400000	0.30750	0.360000	0.20250	-0.621000	0.05633	0.454000	0.30748	ATT		0.597	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		112	632	0	0	0	1	0	112	632				
AVIL	10677	broad.mit.edu	37	12	58200264	58200264	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58200264A>G	ENST00000257861.3	-	13	1980	c.1550T>C	c.(1549-1551)aTt>aCt	p.I517T	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000537081.1_Missense_Mutation_p.I510T|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	517	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATTTCCATGAATTTGGAAGAG	0.488																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1528-1530)aTt>aCt		advillin							145.0	134.0	138.0					12																	58200264		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58200264A>G	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1550T>C	12.37:g.58200264A>G	ENSP00000257861:p.Ile517Thr					AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000257861.3_Missense_Mutation_p.I517T|TSFM_ENST00000548851.1_Intron	p.I510T			O75366	AVIL_HUMAN			13	1528	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		517			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1529T>C	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559012	0.65538	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.20881	2.04;2.04	5.16	5.16	0.70880	.	0.173912	0.51477	D	0.000093	T	0.28466	0.0704	M	0.62088	1.915	0.54753	D	0.99998	P;P	0.45672	0.523;0.864	B;B	0.43950	0.356;0.437	T	0.06661	-1.0814	10	0.87932	D	0	-18.9385	14.0909	0.64990	1.0:0.0:0.0:0.0	.	510;517	O75366-2;O75366	.;AVIL_HUMAN	T	510;517	ENSP00000443207:I510T;ENSP00000257861:I517T	ENSP00000257861:I517T	I	-	2	0	AVIL	56486531	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.062000	0.93920	2.165000	0.68154	0.459000	0.35465	ATT		0.488	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		30	311	0	0	0	1	0	30	311				
ROCK1	6093	broad.mit.edu	37	18	18622107	18622107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18622107C>T	ENST00000399799.2	-	8	1850	c.910G>A	c.(910-912)Gac>Aac	p.D304N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTGATATGTCATTATCATCA	0.313																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(910-912)Gac>Aac		Rho-associated, coiled-coil containing protein kinase 1							80.0	81.0	81.0					18																	18622107		2202	4294	6496	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18622107C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.910G>A	18.37:g.18622107C>T	ENSP00000382697:p.Asp304Asn						p.D304N	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			8	1850	-	Melanoma(1;0.165)		304			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.910G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819112	0.90873	.	.	ENSG00000067900	ENST00000399799	T	0.65178	-0.14	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048434	0.85682	D	0.000000	T	0.44222	0.1283	N	0.03891	-0.335	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.42899	-0.9424	10	0.87932	D	0	.	19.2789	0.94044	0.0:1.0:0.0:0.0	.	304	Q13464	ROCK1_HUMAN	N	304	ENSP00000382697:D304N	ENSP00000382697:D304N	D	-	1	0	ROCK1	16876105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.774000	0.95407	0.655000	0.94253	GAC		0.313	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		15	406	0	0	0	1	0	15	406				
BCL11B	64919	broad.mit.edu	37	14	99697702	99697702	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697702C>T	ENST00000357195.3	-	3	629	c.620G>A	c.(619-621)gGa>gAa	p.G207E	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	207					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACTGGCATCCAAAGGGAGC	0.721			T	TLX3	T-ALL																																	ENST00000357195.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(619-621)gGa>gAa		B-cell CLL/lymphoma 11B (zinc finger protein)							27.0	26.0	26.0					14																	99697702		2203	4296	6499	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99697702C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.620G>A	14.37:g.99697702C>T	ENSP00000349723:p.Gly207Glu					BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	p.G207E	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	629	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	207					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.620G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570624	0.65765	.	.	ENSG00000127152	ENST00000357195	T	0.44881	0.91	5.28	5.28	0.74379	.	0.875761	0.09533	N	0.789240	T	0.56615	0.1997	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50955	-0.8766	10	0.49607	T	0.09	-1.9845	17.1189	0.86696	0.0:1.0:0.0:0.0	.	207	Q9C0K0	BC11B_HUMAN	E	207	ENSP00000349723:G207E	ENSP00000349723:G207E	G	-	2	0	BCL11B	98767455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.606000	0.61126	2.474000	0.83562	0.555000	0.69702	GGA		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		36	140	0	0	0	1	0	36	140				
ZNF85	7639	broad.mit.edu	37	19	21132125	21132125	+	Nonsense_Mutation	SNP	C	C	T	rs535681613		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132125C>T	ENST00000328178.8	+	4	918	c.805C>T	c.(805-807)Cga>Tga	p.R269*	ZNF85_ENST00000345030.6_Nonsense_Mutation_p.R236*|ZNF85_ENST00000601023.1_Nonsense_Mutation_p.R210*	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	269					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AACTTTTAACCGATTCTCAAC	0.353													.|||	1	0.000199681	0.0	0.0	5008	,	,		18911	0.0		0.0	False		,,,				2504	0.001					ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(628-630)Cga>Tga		zinc finger protein 85							26.0	29.0	28.0					19																	21132125		2192	4289	6481	SO:0001587	stop_gained	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132125C>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.805C>T	19.37:g.21132125C>T	ENSP00000329793:p.Arg269*					ZNF85_ENST00000345030.6_Nonsense_Mutation_p.R236*|ZNF85_ENST00000328178.8_Nonsense_Mutation_p.R269*	p.R210*			Q03923	ZNF85_HUMAN			2	1274	+			269					B9ZVP4|Q6NVI0	Nonsense_Mutation	SNP	ENST00000328178.8	37	c.628C>T	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350174	0.41599	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	.	.	.	1.35	-2.7	0.06004	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	4.8448	0.13509	0.0:0.4312:0.3705:0.1983	.	.	.	.	X	269;236;144	.	ENSP00000329793:R269X	R	+	1	2	ZNF85	20923965	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.672000	0.00057	-1.323000	0.02275	-0.672000	0.03802	CGA		0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		40	175	0	0	0	1	0	40	175				
TMPRSS3	64699	broad.mit.edu	37	21	43815520	43815520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43815520C>T	ENST00000291532.3	-	2	962	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	3					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGATCATTTTCCCCCATGGTG	0.493																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(7-9)Gaa>Aaa		transmembrane protease, serine 3							103.0	88.0	93.0					21																	43815520		2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43815520C>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.7G>A	21.37:g.43815520C>T	ENSP00000291532:p.Glu3Lys					TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K	p.E3K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			2	962	-			3					D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.7G>A	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403758	0.62288	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.89270	-2.42;-2.43;-2.42;-2.32;-2.49	5.39	4.49	0.54785	.	0.196987	0.34603	N	0.003830	D	0.88607	0.6482	N	0.24115	0.695	0.33055	D	0.533259	D;D;D	0.67145	0.996;0.996;0.993	P;D;D	0.76071	0.895;0.987;0.971	D	0.88057	0.2791	9	.	.	.	.	10.577	0.45233	0.0:0.9064:0.0:0.0936	.	3;3;3	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	K	3;3;3;87;3	ENSP00000291532:E3K;ENSP00000411013:E3K;ENSP00000381442:E3K;ENSP00000369762:E87K;ENSP00000381434:E3K	.	E	-	1	0	TMPRSS3	42688589	0.990000	0.36364	0.993000	0.49108	0.852000	0.48524	2.010000	0.40913	2.691000	0.91804	0.655000	0.94253	GAA		0.493	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			13	158	0	0	0	1	0	13	158				
TRIM41	90933	broad.mit.edu	37	5	180661696	180661696	+	Missense_Mutation	SNP	C	C	T	rs555265813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180661696C>T	ENST00000315073.5	+	6	2524	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	605	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCTTCTCGGCTGCCTTC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13107	0.0		0.0	False		,,,				2504	0.0					ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1813-1815)tCg>tTg		tripartite motif containing 41							97.0	105.0	102.0					5																	180661696		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180661696C>T	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1814C>T	5.37:g.180661696C>T	ENSP00000320869:p.Ser605Leu					TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	p.S605L	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	2524	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	605			B30.2/SPRY.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.1814C>T	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206989	0.22205	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.70282	-0.47	4.86	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.328211	0.22250	N	0.062574	T	0.76814	0.4040	L	0.55990	1.75	0.20074	N	0.999938	D	0.69078	0.997	P	0.60682	0.878	T	0.68164	-0.5481	10	0.72032	D	0.01	.	10.9864	0.47525	0.0:0.8113:0.1887:0.0	.	605	Q8WV44	TRI41_HUMAN	L	605;290	ENSP00000320869:S605L	ENSP00000320869:S605L	S	+	2	0	TRIM41	180594302	0.201000	0.23410	0.441000	0.26858	0.001000	0.01503	0.018000	0.13422	1.250000	0.43966	-0.519000	0.04390	TCG		0.602	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		128	682	0	0	0	1	0	128	682				
ATP8B1	5205	broad.mit.edu	37	18	55365052	55365052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55365052C>T	ENST00000283684.4	-	6	601	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R201H|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	201					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTTTTTCAGACGAATGACGTC	0.398																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(601-603)cGt>cAt		ATPase, aminophospholipid transporter, class I, type 8B, member 1							65.0	69.0	68.0					18																	55365052		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55365052C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.602G>A	18.37:g.55365052C>T	ENSP00000283684:p.Arg201His					ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R201H	p.R201H	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			7	721	-		Colorectal(73;0.229)	201					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.602G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267877	0.95399	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.90504	-2.68;-2.68	6.04	6.04	0.98038	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94613	0.7806	10	0.66056	D	0.02	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	201	O43520	AT8B1_HUMAN	H	201	ENSP00000283684:R201H;ENSP00000445359:R201H	ENSP00000283684:R201H	R	-	2	0	ATP8B1	53516050	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.979000	0.63806	2.873000	0.98535	0.563000	0.77884	CGT		0.398	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		43	158	0	0	0	1	0	43	158				
NFE2	4778	broad.mit.edu	37	12	54686881	54686881	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54686881T>C	ENST00000540264.2	-	2	908	c.399A>G	c.(397-399)gcA>gcG	p.A133A	NFE2_ENST00000312156.4_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.A133A|NFE2_ENST00000435572.2_Silent_p.A133A			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	133	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TAGGTGGCCCTGCTGGCAGCC	0.582																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(397-399)gcA>gcG		nuclear factor, erythroid 2							102.0	107.0	105.0					12																	54686881		2203	4300	6503	SO:0001819	synonymous_variant	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686881T>C	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.399A>G	12.37:g.54686881T>C						NFE2_ENST00000312156.4_Silent_p.A133A|NFE2_ENST00000553070.1_Silent_p.A133A|NFE2_ENST00000435572.2_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA	p.A133A			Q16621	NFE2_HUMAN			2	908	-			133			Transactivation domain.		Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	c.399A>G	CCDS8876.1																																																																																				0.582	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		126	609	0	0	0	1	0	126	609				
FAIM3	9214	broad.mit.edu	37	1	207087198	207087198	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087198C>A	ENST00000367091.3	-	2	422	c.279G>T	c.(277-279)caG>caT	p.Q93H	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	93	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTTCTGTCAGCTGTGTTACCT	0.527																																						ENST00000367091.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15						c.(277-279)caG>caT		Fas apoptotic inhibitory molecule 3							126.0	119.0	121.0					1																	207087198		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087198C>A	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.279G>T	1.37:g.207087198C>A	ENSP00000356058:p.Gln93His					FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H	p.Q93H	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN			2	422	-	Breast(84;0.201)		93			Ig-like.		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.279G>T	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	7.021	0.558618	0.13436	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.28	-0.098	0.13630	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.381571	0.22609	N	0.057854	T	0.16171	0.0389	L	0.39326	1.205	0.09310	N	1	P	0.46142	0.873	P	0.45474	0.482	T	0.09997	-1.0649	10	0.51188	T	0.08	-5.8428	3.8053	0.08774	0.284:0.4736:0.0:0.2424	.	93	O60667	FAIM3_HUMAN	H	93;93;93;93;124	ENSP00000356058:Q93H;ENSP00000403356:Q93H;ENSP00000432936:Q93H;ENSP00000437331:Q93H;ENSP00000436316:Q124H	ENSP00000356058:Q93H	Q	-	3	2	FAIM3	205153821	0.008000	0.16893	0.002000	0.10522	0.076000	0.17211	-0.202000	0.09451	-0.009000	0.14296	-1.858000	0.00562	CAG		0.527	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		21	557	1	0	2.4624e-09	1	2.59004e-09	21	557				
GRIN2C	2905	broad.mit.edu	37	17	72843044	72843044	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843044C>A	ENST00000293190.5	-	10	2163	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	673					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGTACTGATCTTGAGGCCGC	0.617																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2017-2019)Gat>Tat		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						92.0	83.0	86.0					17																	72843044		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843044C>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2017G>T	17.37:g.72843044C>A	ENSP00000293190:p.Asp673Tyr					GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	p.D673Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			10	2163	-	all_lung(278;0.172)|Lung NSC(278;0.207)		673					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2017G>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307337	0.40795	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.40476	1.03	4.63	4.63	0.57726	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.228759	0.42420	D	0.000702	T	0.46367	0.1389	N	0.22421	0.69	0.58432	D	0.999996	P;D	0.56035	0.896;0.974	B;P	0.57101	0.382;0.813	T	0.51560	-0.8690	10	0.87932	D	0	.	16.7658	0.85523	0.0:1.0:0.0:0.0	.	707;673	Q8IW23;Q14957	.;NMDE3_HUMAN	Y	673;707	ENSP00000293190:D673Y	ENSP00000293190:D673Y	D	-	1	0	GRIN2C	70354639	1.000000	0.71417	0.096000	0.21009	0.899000	0.52679	7.577000	0.82486	2.548000	0.85928	0.561000	0.74099	GAT		0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			30	397	1	0	4.02929e-09	1	4.23443e-09	30	397				
DAAM2	23500	broad.mit.edu	37	6	39851741	39851741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39851741C>T	ENST00000398904.2	+	15	2031	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	DAAM2_ENST00000538976.1_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607215.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	617	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.		R -> H (in dbSNP:rs34699846).		actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATTTTAGGAGCGTGTCCCTGG	0.493																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1849-1851)Cgt>Tgt		dishevelled associated activator of morphogenesis 2							87.0	85.0	86.0					6																	39851741		1960	4155	6115	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39851741C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1849C>T	6.37:g.39851741C>T	ENSP00000381876:p.Arg617Cys					DAAM2_ENST00000398904.2_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C	p.R617C	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			15	2031	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		617		R -> H (in dbSNP:rs34699846).	FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1849C>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699144	0.68501	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17691	2.26;2.26;2.26	5.93	4.06	0.47325	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.372678	0.29752	N	0.011281	T	0.18593	0.0446	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67725	0.94;0.953	T	0.01725	-1.1287	10	0.87932	D	0	.	7.0974	0.25317	0.2507:0.6654:0.0:0.084	.	617;617	G5EA45;Q86T65	.;DAAM2_HUMAN	C	617	ENSP00000274867:R617C;ENSP00000381876:R617C;ENSP00000437808:R617C	ENSP00000274867:R617C	R	+	1	0	DAAM2	39959719	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.359000	0.34113	1.513000	0.48852	0.561000	0.74099	CGT		0.493	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			15	75	0	0	0	1	0	15	75				
KPNA6	23633	broad.mit.edu	37	1	32620216	32620216	+	Missense_Mutation	SNP	A	A	G	rs141995585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32620216A>G	ENST00000373625.3	+	2	125	c.32A>G	c.(31-33)aAt>aGt	p.N11S	KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	11	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGGAAAGACAATTATCGAATG	0.448																																						ENST00000373625.3																			0				large_intestine(2)	2						c.(31-33)aAt>aGt		karyopherin alpha 6 (importin alpha 7)		A	SER/ASN	0,4406		0,0,2203	77.0	74.0	75.0		32	4.4	1.0	1	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPNA6	NM_012316.4	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	11/537	32620216	1,13005	2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32620216A>G	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.32A>G	1.37:g.32620216A>G	ENSP00000362728:p.Asn11Ser					KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000469790.1_3'UTR	p.N11S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN			2	125	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	11			IBB.		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.32A>G	CCDS352.1	.	.	.	.	.	.	.	.	.	.	a	17.36	3.370807	0.61624	0.0	1.16E-4	ENSG00000025800	ENST00000373625;ENST00000537234;ENST00000545542	T;T;T	0.47869	0.83;0.83;0.83	5.5	4.37	0.52481	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.45137	1.4	0.80722	D	1	B;B	0.32693	0.38;0.001	B;B	0.31946	0.138;0.009	T	0.18147	-1.0346	10	0.37606	T	0.19	-12.3149	11.4813	0.50326	0.9293:0.0:0.0707:0.0	.	16;11	F5GYL8;O60684	.;IMA7_HUMAN	S	11;8;16	ENSP00000362728:N11S;ENSP00000444930:N8S;ENSP00000440609:N16S	ENSP00000362728:N11S	N	+	2	0	KPNA6	32392803	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.119000	0.71590	1.030000	0.39839	0.533000	0.62120	AAT		0.448	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		21	266	0	0	0	1	0	21	266				
ITGB5	3693	broad.mit.edu	37	3	124578178	124578178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124578178C>A	ENST00000296181.4	-	3	568	c.272G>T	c.(271-273)aGc>aTc	p.S91I		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	91					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GAGGGGCAGGCTCCTCAGGAC	0.597																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(271-273)aGc>aTc		integrin, beta 5							69.0	69.0	69.0					3																	124578178		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124578178C>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.272G>T	3.37:g.124578178C>A	ENSP00000296181:p.Ser91Ile						p.S91I	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	3	568	-			91					B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.272G>T	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881265	0.51801	.	.	ENSG00000082781	ENST00000296181	D	0.92752	-3.1	5.26	2.26	0.28386	Integrin beta subunit, N-terminal (2);	0.194739	0.56097	D	0.000035	D	0.90584	0.7048	L	0.55990	1.75	0.36569	D	0.872868	P	0.48016	0.904	P	0.51266	0.664	D	0.89985	0.4103	10	0.87932	D	0	.	5.305	0.15799	0.0:0.4619:0.0:0.5381	.	91	P18084	ITB5_HUMAN	I	91	ENSP00000296181:S91I	ENSP00000296181:S91I	S	-	2	0	ITGB5	126060868	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	0.793000	0.26944	0.776000	0.33473	0.655000	0.94253	AGC		0.597	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		82	330	1	0	2.28164e-27	1	2.64155e-27	82	330				
KLHL20	27252	broad.mit.edu	37	1	173744849	173744849	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744849T>C	ENST00000209884.4	+	10	1642	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	KLHL20_ENST00000546011.1_Silent_p.C313C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	502					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCTAGGCTGTGCAGTATATC	0.488																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1504-1506)tgT>tgC		kelch-like family member 20							110.0	103.0	106.0					1																	173744849		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173744849T>C	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1506T>C	1.37:g.173744849T>C						KLHL20_ENST00000546011.1_Silent_p.C313C	p.C502C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			10	1642	+			502					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.1506T>C	CCDS1310.1																																																																																				0.488	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		67	368	0	0	0	1	0	67	368				
EPHX3	79852	broad.mit.edu	37	19	15342604	15342604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342604G>A	ENST00000221730.3	-	2	532	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_ENST00000602233.1_Silent_p.H104H|EPHX3_ENST00000435261.1_Silent_p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	104						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGGGAAGCCGTGCAGAAACA	0.667																																						ENST00000221730.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(310-312)caC>caT		epoxide hydrolase 3							66.0	69.0	68.0					19																	15342604		2203	4300	6503	SO:0001819	synonymous_variant	79852					extracellular region	hydrolase activity	g.chr19:15342604G>A	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.312C>T	19.37:g.15342604G>A						EPHX3_ENST00000602233.1_Silent_p.H104H|EPHX3_ENST00000435261.1_Silent_p.H104H	p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN			2	532	-			104					A3KMR3	Silent	SNP	ENST00000221730.3	37	c.312C>T	CCDS12327.1																																																																																				0.667	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		71	324	0	0	0	1	0	71	324				
SIGLEC8	27181	broad.mit.edu	37	19	51957546	51957546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51957546G>A	ENST00000321424.3	-	6	1238	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	391					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTTGCCGATTTCTTCCT	0.597																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1171-1173)tCg>tTg		sialic acid binding Ig-like lectin 8							102.0	95.0	98.0					19																	51957546		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51957546G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1172C>T	19.37:g.51957546G>A	ENSP00000321077:p.Ser391Leu					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L	p.S391L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	6	1238	-		all_neural(266;0.0199)	391					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1172C>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970335	0.34754	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.62941	1.35;-0.01;1.1	1.91	0.861	0.19048	.	.	.	.	.	T	0.58892	0.2154	L	0.53249	1.67	0.09310	N	1	P;D;D	0.67145	0.552;0.996;0.974	B;P;B	0.50617	0.067;0.646;0.184	T	0.48433	-0.9036	9	0.40728	T	0.16	.	4.1592	0.10275	0.2124:0.0:0.7876:0.0	.	282;298;391	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	282;391;298	ENSP00000389142:S282L;ENSP00000321077:S391L;ENSP00000339448:S298L	ENSP00000321077:S391L	S	-	2	0	SIGLEC8	56649358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.075000	0.14686	0.366000	0.24427	0.502000	0.49764	TCG		0.597	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		99	495	0	0	0	1	0	99	495				
TTF1	7270	broad.mit.edu	37	9	135277186	135277186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277186G>T	ENST00000334270.2	-	2	1062	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	341					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAAATTCCTGGTGATTGGACT	0.507																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1021-1023)caC>caA		transcription termination factor, RNA polymerase I							110.0	110.0	110.0					9																	135277186		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277186G>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1023C>A	9.37:g.135277186G>T	ENSP00000333920:p.His341Gln						p.H341Q	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1062	-		Myeloproliferative disorder(178;0.204)	341					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1023C>A	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219808	0.09863	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.09163	3.01	3.1	2.06	0.26882	.	1.752520	0.02938	N	0.140098	T	0.09024	0.0223	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.31752	-0.9932	10	0.15066	T	0.55	.	6.7339	0.23399	0.0:0.0:0.7202:0.2798	.	341	Q15361	TTF1_HUMAN	Q	341	ENSP00000333920:H341Q	ENSP00000245588:H341Q	H	-	3	2	TTF1	134267007	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.228000	0.17814	1.415000	0.47037	0.313000	0.20887	CAC		0.507	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		129	735	1	0	1.90269e-63	1	2.40132e-63	129	735				
PKD1	5310	broad.mit.edu	37	16	2161761	2161761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161761C>T	ENST00000262304.4	-	15	3615	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1136	PKD 6. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACCAGGACGCCGTCACTCAC	0.682																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3406-3408)gGc>gAc		polycystic kidney disease 1 (autosomal dominant)							15.0	17.0	16.0					16																	2161761		2172	4287	6459	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161761C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3407G>A	16.37:g.2161761C>T	ENSP00000262304:p.Gly1136Asp					PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D	p.G1136D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	3615	-			1136			PKD 6.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.3407G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	8.145	0.786085	0.16189	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.67345	-0.26;-0.26	5.66	-5.54	0.02544	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	1.816110	0.02356	N	0.076399	T	0.39682	0.1087	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15052	0.004;0.012	T	0.35773	-0.9775	10	0.12103	T	0.63	.	8.7888	0.34837	0.0:0.1369:0.4152:0.4479	.	1136;1136	P98161-3;P98161	.;PKD1_HUMAN	D	1136;1136;851	ENSP00000262304:G1136D;ENSP00000399501:G1136D	ENSP00000262304:G1136D	G	-	2	0	PKD1	2101762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.391000	0.02525	-1.110000	0.02992	-0.147000	0.13772	GGC		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			19	75	0	0	0	1	0	19	75				
ZDHHC1	29800	broad.mit.edu	37	16	67429051	67429051	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67429051A>C	ENST00000348579.2	-	10	1425	c.1084T>G	c.(1084-1086)Tgg>Ggg	p.W362G	TPPP3_ENST00000393957.2_5'Flank|ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000562206.1_5'Flank|TPPP3_ENST00000290942.5_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	362					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TTTCTATCCCACTCCACCTGG	0.637																																						ENST00000348579.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(1084-1086)Tgg>Ggg		zinc finger, DHHC-type containing 1							20.0	22.0	21.0					16																	67429051		2198	4300	6498	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67429051A>C	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1084T>G	16.37:g.67429051A>C	ENSP00000340299:p.Trp362Gly					ZDHHC1_ENST00000566075.1_Intron	p.W362G	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	10	1425	-		Ovarian(137;0.223)	362					O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.1084T>G	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	A	8.028	0.761202	0.15914	.	.	ENSG00000159714	ENST00000348579	T	0.36340	1.26	3.72	0.533	0.17121	.	16.041100	0.00166	N	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09640	-1.0665	10	0.20519	T	0.43	.	3.3198	0.07047	0.2081:0.5612:0.0:0.2307	.	362	Q8WTX9	ZDHC1_HUMAN	G	362	ENSP00000340299:W362G	ENSP00000340299:W362G	W	-	1	0	ZDHHC1	65986552	0.000000	0.05858	0.048000	0.18961	0.081000	0.17604	-0.240000	0.08952	0.050000	0.15949	-0.302000	0.09304	TGG		0.637	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		22	123	0	0	0	1	0	22	123				
INA	9118	broad.mit.edu	37	10	105037253	105037253	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105037253G>T	ENST00000369849.4	+	1	334	c.285G>T	c.(283-285)aaG>aaT	p.K95N		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	95	Coil 1A.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACGAGAAGGAGCAGCTGC	0.687																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(283-285)aaG>aaT		internexin neuronal intermediate filament protein, alpha							31.0	31.0	31.0					10																	105037253		2146	4177	6323	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037253G>T	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.285G>T	10.37:g.105037253G>T	ENSP00000358865:p.Lys95Asn						p.K95N	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	334	+			95			Coil 1A.|Rod.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.285G>T	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949929	0.73787	.	.	ENSG00000148798	ENST00000369849	D	0.93547	-3.24	4.03	2.15	0.27550	Filament (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.98883	4.36	0.45704	D	0.998619	D	0.89917	1.0	D	0.79108	0.992	D	0.96865	0.9635	10	0.87932	D	0	.	9.5962	0.39576	0.1916:0.0:0.8084:0.0	.	95	Q16352	AINX_HUMAN	N	95	ENSP00000358865:K95N	ENSP00000358865:K95N	K	+	3	2	INA	105027243	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.345000	0.65987	1.032000	0.39892	0.462000	0.41574	AAG		0.687	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		26	181	1	0	4.87955e-14	1	5.28594e-14	26	181				
SHROOM3	57619	broad.mit.edu	37	4	77675938	77675938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675938C>T	ENST00000296043.6	+	7	5255	c.4302C>T	c.(4300-4302)gcC>gcT	p.A1434A	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1434					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAAGTGGGCCCACGCAGCCA	0.562																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4300-4302)gcC>gcT		shroom family member 3							50.0	45.0	47.0					4																	77675938		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675938C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4302C>T	4.37:g.77675938C>T							p.A1434A	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5255	+			1434					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.4302C>T	CCDS3579.2																																																																																				0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		41	172	0	0	0	1	0	41	172				
KCNT2	343450	broad.mit.edu	37	1	196254830	196254830	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196254830C>A	ENST00000294725.9	-	23	3569	c.2654G>T	c.(2653-2655)gGg>gTg	p.G885V	KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V|KCNT2_ENST00000367433.5_Missense_Mutation_p.G861V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.G811V|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	885					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAACACCCTCCCAGCAGCAAA	0.368																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2581-2583)gGg>gTg		potassium channel, subfamily T, member 2							86.0	83.0	84.0					1																	196254830		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254830C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2654G>T	1.37:g.196254830C>A	ENSP00000294725:p.Gly885Val					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.G885V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V	p.G861V			Q6UVM3	KCNT2_HUMAN			22	2683	-			885					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2582G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588233	0.86851	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78707	-1.2;-1.2;-1.2	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	D	0.90164	0.6926	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.999;0.999	D;D;D;D;D	0.74023	0.935;0.982;0.971;0.982;0.935	D	0.91274	0.5046	10	0.87932	D	0	-17.9902	18.8872	0.92383	0.0:1.0:0.0:0.0	.	885;843;861;811;885	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	V	861;811;885	ENSP00000356403:G861V;ENSP00000356401:G811V;ENSP00000294725:G885V	ENSP00000294725:G885V	G	-	2	0	KCNT2	194521453	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.201000	0.77847	2.835000	0.97688	0.591000	0.81541	GGG		0.368	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		9	240	1	0	0.000274275	1	0.000278163	9	240				
USP54	159195	broad.mit.edu	37	10	75277367	75277367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75277367C>T	ENST00000339859.4	-	19	2917	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	USP54_ENST00000428547.1_Silent_p.E789E|USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000408019.1_Silent_p.E939E|USP54_ENST00000394811.2_Silent_p.E27E|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	939					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGGCAGATGACTCTGGAGATA	0.517																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(2815-2817)gaG>gaA		ubiquitin specific peptidase 54							79.0	72.0	75.0					10																	75277367		2203	4300	6503	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75277367C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2817G>A	10.37:g.75277367C>T						USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000408019.1_Silent_p.E939E|USP54_ENST00000428547.1_Silent_p.E789E|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000394811.2_Silent_p.E27E|RP11-137L10.6_ENST00000595069.1_RNA	p.E939E			Q70EL1	UBP54_HUMAN			19	2917	-	Prostate(51;0.0112)		939					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.2817G>A	CCDS7329.2																																																																																				0.517	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		47	175	0	0	0	1	0	47	175				
EPHB3	2049	broad.mit.edu	37	3	184290513	184290513	+	Silent	SNP	C	C	T	rs541541992	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290513C>T	ENST00000330394.2	+	3	857	c.405C>T	c.(403-405)taC>taT	p.Y135Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	135	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCTTCTACTACGAGGCTGACA	0.587													c|||	3	0.000599042	0.0023	0.0	5008	,	,		20658	0.0		0.0	False		,,,				2504	0.0					ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(403-405)taC>taT		EPH receptor B3							66.0	64.0	64.0					3																	184290513		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184290513C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.405C>T	3.37:g.184290513C>T						EIF2B5_ENST00000444495.1_Intron	p.Y135Y	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		3	857	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		135					Q7Z740	Silent	SNP	ENST00000330394.2	37	c.405C>T	CCDS3268.1																																																																																				0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		8	313	0	0	0	1	0	8	313				
HEATR5B	54497	broad.mit.edu	37	2	37208886	37208886	+	Missense_Mutation	SNP	T	T	C	rs571134703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37208886T>C	ENST00000233099.5	-	36	6058	c.5963A>G	c.(5962-5964)gAt>gGt	p.D1988G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1988						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGAATTTTCATCCAGCAGGTA	0.358																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5962-5964)gAt>gGt		HEAT repeat containing 5B							66.0	73.0	70.0					2																	37208886		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37208886T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5963A>G	2.37:g.37208886T>C	ENSP00000233099:p.Asp1988Gly					HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	p.D1988G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			36	6058	-		all_hematologic(82;0.21)	1988					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.5963A>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136813	0.77662	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.51817	0.76;0.69	5.61	5.61	0.85477	Armadillo-type fold (1);	0.049812	0.85682	D	0.000000	T	0.63117	0.2484	M	0.75615	2.305	0.34128	D	0.664921	P;P	0.41624	0.53;0.757	P;P	0.51866	0.571;0.682	T	0.75193	-0.3404	10	0.54805	T	0.06	-21.388	16.1025	0.81194	0.0:0.0:0.0:1.0	.	1988;1988	Q9P2D3;B9EK47	HTR5B_HUMAN;.	G	1988;1899	ENSP00000233099:D1988G;ENSP00000346531:D1899G	ENSP00000233099:D1988G	D	-	2	0	HEATR5B	37062390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.254000	0.74563	0.533000	0.62120	GAT		0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		126	358	0	0	0	1	0	126	358				
MUT	4594	broad.mit.edu	37	6	49427082	49427082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49427082A>G	ENST00000274813.3	-	2	225	c.98T>C	c.(97-99)cTa>cCa	p.L33P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	33					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCTGGTGTAGAAGTCGTTG	0.483																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(97-99)cTa>cCa		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						119.0	116.0	117.0					6																	49427082		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49427082A>G		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.98T>C	6.37:g.49427082A>G	ENSP00000274813:p.Leu33Pro						p.L33P	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			2	225	-	Lung NSC(77;0.0376)		33					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.98T>C	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534520	0.45073	.	.	ENSG00000146085	ENST00000274813	D	0.98264	-4.83	5.38	5.38	0.77491	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);	0.279818	0.29846	N	0.011045	D	0.96358	0.8812	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.98338	1.0537	10	0.54805	T	0.06	-5.9567	14.8593	0.70366	1.0:0.0:0.0:0.0	.	33	P22033	MUTA_HUMAN	P	33	ENSP00000274813:L33P	ENSP00000274813:L33P	L	-	2	0	MUT	49535041	1.000000	0.71417	0.944000	0.38274	0.706000	0.40770	6.361000	0.73070	2.165000	0.68154	0.533000	0.62120	CTA		0.483	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			64	336	0	0	0	1	0	64	336				
TTN	7273	broad.mit.edu	37	2	179419371	179419371	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419371T>C	ENST00000591111.1	-	282	84004	c.83780A>G	c.(83779-83781)cAc>cGc	p.H27927R	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H29568R|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27927	Fibronectin type-III 103. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CACAATGTAGTGAGTGATTTT	0.468																																						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.(88702-88704)cAc>cGc		titin							107.0	109.0	109.0					2																	179419371		2033	4183	6216	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419371T>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.83780A>G	2.37:g.179419371T>C	ENSP00000465570:p.His27927Arg					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H27927R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.H29568R	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)		332	88927	-			27927			Ig-like 135.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.88703A>G		.	.	.	.	.	.	.	.	.	.	T	18.85	3.710933	0.68730	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64832	0.2634	L	0.37897	1.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.67848	-0.5564	9	0.87932	D	0	.	16.1819	0.81915	0.0:0.0:0.0:1.0	.	20503;20628;20695;27927	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	27000;20503;20695;20628;20500	ENSP00000343764:H27000R;ENSP00000434586:H20503R;ENSP00000340554:H20695R;ENSP00000352154:H20628R	ENSP00000340554:H20695R	H	-	2	0	TTN	179127617	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	CAC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		181	399	0	0	0	1	0	181	399				
VPS26B	112936	broad.mit.edu	37	11	134109963	134109963	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134109963C>A	ENST00000281187.5	+	3	937	c.459C>A	c.(457-459)agC>agA	p.S153R	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	153					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACACACTCAGCACATACCCAG	0.453																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(457-459)agC>agA		vacuolar protein sorting 26 homolog B (S. pombe)							190.0	159.0	170.0					11																	134109963		2201	4297	6498	SO:0001583	missense	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134109963C>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.459C>A	11.37:g.134109963C>A	ENSP00000281187:p.Ser153Arg					VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R	p.S153R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	3	937	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	153					Q96A55	Missense_Mutation	SNP	ENST00000281187.5	37	c.459C>A	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494802	0.44352	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	T	0.06528	3.29	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.60012	1.86	0.80722	D	1	P	0.51449	0.945	P	0.57548	0.823	T	0.03597	-1.1021	10	0.17832	T	0.49	-4.0493	19.3065	0.94164	0.0:1.0:0.0:0.0	.	153	Q4G0F5	VP26B_HUMAN	R	153;152	ENSP00000281187:S153R	ENSP00000281187:S153R	S	+	3	2	VPS26B	133615173	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.031000	0.57267	2.570000	0.86706	0.650000	0.86243	AGC		0.453	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		67	321	1	0	5.10652e-33	1	6.04401e-33	67	321				
INPP5F	22876	broad.mit.edu	37	10	121551380	121551380	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551380G>T	ENST00000361976.2	+	5	610		c.e5-1		INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTTCTTATAGGTTAAGGAAA	0.343																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e5-1		inositol polyphosphate-5-phosphatase F							75.0	79.0	78.0					10																	121551380		2203	4300	6503	SO:0001630	splice_region_variant	22876						phosphoric ester hydrolase activity	g.chr10:121551380G>T	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.445-1G>T	10.37:g.121551380G>T						INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	610	+		Lung NSC(174;0.109)|all_lung(145;0.142)						A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000361976.2	37		CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855862	0.51376	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	.	.	.	5.67	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0496	0.71858	0.0686:0.0:0.9314:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5F	121541370	1.000000	0.71417	0.978000	0.43139	0.631000	0.37964	7.420000	0.80191	1.532000	0.49169	0.650000	0.86243	.		0.343	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	Intron	10	364	1	0	2.17888e-05	1	2.22852e-05	10	364				
DHX9	1660	broad.mit.edu	37	1	182846018	182846018	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182846018T>G	ENST00000367549.3	+	19	2288	c.2178T>G	c.(2176-2178)gtT>gtG	p.V726V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	726	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGATGTTGTTTATGTCATTG	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(2176-2178)gtT>gtG		DEAH (Asp-Glu-Ala-His) box helicase 9							70.0	63.0	65.0					1																	182846018		1839	4097	5936	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182846018T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2178T>G	1.37:g.182846018T>G							p.V726V	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			19	2288	+			726			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.2178T>G	CCDS41444.1																																																																																				0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		49	190	0	0	0	1	0	49	190				
IDUA	3425	broad.mit.edu	37	4	995495	995495	+	Silent	SNP	G	G	A	rs377312287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:995495G>A	ENST00000247933.4	+	6	706	c.618G>A	c.(616-618)tcG>tcA	p.S206S	IDUA_ENST00000514224.1_Silent_p.S74S|IDUA_ENST00000453894.1_Silent_p.S159S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	206					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGCCTGCTCGGAGGGTCTGC	0.716																																						ENST00000453894.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(475-477)tcG>tcA		iduronidase, alpha-L-	Laronidase(DB00090)	G		0,4382		0,0,2191	12.0	14.0	13.0		618	-10.0	0.7	4		13	1,8559		0,1,4279	no	coding-synonymous	IDUA	NM_000203.3		0,1,6470	AA,AG,GG		0.0117,0.0,0.0077		206/654	995495	1,12941	2191	4280	6471	SO:0001819	synonymous_variant	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995495G>A	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.618G>A	4.37:g.995495G>A						IDUA_ENST00000514224.1_Silent_p.S74S|IDUA_ENST00000247933.4_Silent_p.S206S	p.S159S			P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	565	+			206					B3KWK6	Silent	SNP	ENST00000247933.4	37	c.477G>A	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	6.077	0.382540	0.11524	0.0	1.17E-4	ENSG00000127415	ENST00000504568	.	.	.	5.05	-9.97	0.00440	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-18.6917	2.4043	0.04409	0.1133:0.2242:0.3235:0.3391	.	.	.	.	Q	193	.	.	R	+	2	0	IDUA	985495	0.000000	0.05858	0.727000	0.30756	0.515000	0.34225	-3.415000	0.00479	-1.651000	0.01504	-2.577000	0.00169	CGG		0.716	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		28	86	0	0	0	1	0	28	86				
TNFRSF1B	7133	broad.mit.edu	37	1	12252968	12252968	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12252968C>T	ENST00000376259.3	+	6	689	c.600C>T	c.(598-600)tgC>tgT	p.C200C	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	200					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ATGCAGTCTGCACGTCCACGT	0.627																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(598-600)tgC>tgT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						152.0	112.0	125.0					1																	12252968		2203	4300	6503	SO:0001819	synonymous_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12252968C>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.600C>T	1.37:g.12252968C>T						TNFRSF1B_ENST00000492361.1_3'UTR	p.C200C	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	6	689	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	200					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	c.600C>T	CCDS145.1																																																																																				0.627	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		12	170	0	0	0	1	0	12	170				
GSE1	23199	broad.mit.edu	37	16	85696964	85696964	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85696964G>A	ENST00000253458.7	+	11	2564	c.2388G>A	c.(2386-2388)ttG>ttA	p.L796L	GSE1_ENST00000405402.2_Silent_p.L692L|GSE1_ENST00000393243.1_Silent_p.L723L	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	796																	TAGAGTTTTTGCAACTTTTTG	0.562																																						ENST00000253458.7																			0											c.(2386-2388)ttG>ttA		Gse1 coiled-coil protein							104.0	123.0	116.0					16																	85696964		2198	4300	6498	SO:0001819	synonymous_variant	23199							g.chr16:85696964G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2388G>A	16.37:g.85696964G>A						GSE1_ENST00000405402.2_Silent_p.L692L|GSE1_ENST00000393243.1_Silent_p.L723L	p.L796L	NM_014615.2	NP_055430.1					11	2564	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.2388G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953023	0.18431	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.21	4.25	0.50352	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52177	-0.8610	4	.	.	.	-12.8675	5.6565	0.17644	0.1538:0.0:0.6779:0.1683	.	.	.	.	Y	603	.	.	C	+	2	0	KIAA0182	84254465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.943000	0.49026	2.438000	0.82558	0.561000	0.74099	TGC		0.562	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		184	958	0	0	0	1	0	184	958				
CROCC	9696	broad.mit.edu	37	1	17281832	17281832	+	Missense_Mutation	SNP	G	G	A	rs145972878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281832G>A	ENST00000375541.5	+	24	3560	c.3491G>A	c.(3490-3492)cGt>cAt	p.R1164H		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCAGCTGCGTCTGCTGGAG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		15796	0.0		0.001	False		,,,				2504	0.0					ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3490-3492)cGt>cAt		ciliary rootlet coiled-coil, rootletin		G	HIS/ARG	0,4370		0,0,2185	22.0	26.0	24.0		3491	2.4	1.0	1	dbSNP_134	24	8,8572		0,8,4282	yes	missense	CROCC	NM_014675.3	29	0,8,6467	AA,AG,GG		0.0932,0.0,0.0618	benign	1164/2018	17281832	8,12942	2185	4290	6475	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17281832G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3491G>A	1.37:g.17281832G>A	ENSP00000364691:p.Arg1164His						p.R1164H	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	24	3560	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1164						Missense_Mutation	SNP	ENST00000375541.5	37	c.3491G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	9.156	1.017534	0.19355	0.0	9.32E-4	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.54479	0.57	4.31	2.39	0.29439	.	.	.	.	.	T	0.42810	0.1219	L	0.45137	1.4	0.28356	N	0.920651	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.40794	-0.9544	9	0.54805	T	0.06	.	8.2951	0.31980	0.2008:0.0:0.7992:0.0	.	467;1164	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	H	1164;1045	ENSP00000364691:R1164H	ENSP00000364691:R1164H	R	+	2	0	CROCC	17154419	0.008000	0.16893	0.998000	0.56505	0.024000	0.10985	0.109000	0.15417	1.113000	0.41760	0.561000	0.74099	CGT		0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		17	226	0	0	0	1	0	17	226				
NLRP14	338323	broad.mit.edu	37	11	7060067	7060067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7060067C>A	ENST00000299481.4	+	2	596	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	84	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAAGATGAACCTGAAGGATCT	0.502																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(250-252)Ctg>Atg		NLR family, pyrin domain containing 14							62.0	65.0	64.0					11																	7060067		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060067C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.250C>A	11.37:g.7060067C>A	ENSP00000299481:p.Leu84Met						p.L84M	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	596	+			84			DAPIN.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.250C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261442	0.23051	.	.	ENSG00000158077	ENST00000299481	T	0.51817	0.69	4.08	2.21	0.28008	Pyrin (2);DEATH-like (2);	0.000000	0.36665	N	0.002478	T	0.61813	0.2377	M	0.77313	2.365	0.22552	N	0.998991	D	0.89917	1.0	D	0.81914	0.995	T	0.49204	-0.8964	10	0.35671	T	0.21	.	6.4316	0.21801	0.0:0.7794:0.0:0.2206	.	84	Q86W24	NAL14_HUMAN	M	84	ENSP00000299481:L84M	ENSP00000299481:L84M	L	+	1	2	NLRP14	7016643	0.998000	0.40836	0.999000	0.59377	0.355000	0.29361	0.801000	0.27055	0.686000	0.31488	-0.140000	0.14226	CTG		0.502	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		6	193	1	0	5.18039e-06	1	5.32547e-06	6	193				
BAD	572	broad.mit.edu	37	11	64051656	64051656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64051656C>T	ENST00000394532.3	-	1	455	c.185G>A	c.(184-186)gGa>gAa	p.G62E	GPR137_ENST00000438980.2_5'Flank|GPR137_ENST00000539851.1_5'Flank|GPR137_ENST00000313074.3_5'Flank|BAD_ENST00000394531.3_Missense_Mutation_p.G62E|BAD_ENST00000309032.3_Missense_Mutation_p.G62E|BAD_ENST00000544785.1_Missense_Mutation_p.G62E|GPR137_ENST00000411458.1_5'Flank|GPR137_ENST00000377702.4_5'Flank	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	62					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GTACTTACCTCCATGATGGCT	0.652																																						ENST00000394532.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(184-186)gGa>gAa		BCL2-associated agonist of cell death							66.0	52.0	57.0					11																	64051656		2196	4283	6479	SO:0001583	missense	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64051656C>T	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.185G>A	11.37:g.64051656C>T	ENSP00000378040:p.Gly62Glu					BAD_ENST00000394531.3_Missense_Mutation_p.G62E|BAD_ENST00000309032.3_Missense_Mutation_p.G62E|BAD_ENST00000544785.1_Missense_Mutation_p.G62E	p.G62E	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN			1	455	-			62					O14803|Q6FH21	Missense_Mutation	SNP	ENST00000394532.3	37	c.185G>A	CCDS8065.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898415	0.52227	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	3.84	2.92	0.33932	.	0.452778	0.19726	N	0.107474	T	0.60573	0.2279	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.967	D;P	0.69654	0.965;0.769	T	0.61297	-0.7091	10	0.66056	D	0.02	-22.4463	7.4518	0.27242	0.0:0.8821:0.0:0.1179	.	62;62	A8MXU7;Q92934	.;BAD_HUMAN	E	62	ENSP00000378040:G62E;ENSP00000309103:G62E;ENSP00000440575:G62E;ENSP00000378039:G62E	ENSP00000309103:G62E	G	-	2	0	BAD	63808232	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	0.870000	0.28010	1.187000	0.43000	0.561000	0.74099	GGA		0.652	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		64	267	0	0	0	1	0	64	267				
SLC25A1	6576	broad.mit.edu	37	22	19163678	19163678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19163678C>T	ENST00000215882.5	-	9	1057	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	SLC25A1_ENST00000461267.1_5'Flank|SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	301					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		AGCAGCTTCACCACTTCATCA	0.602																																						ENST00000215882.5																			0				cervix(1)|lung(1)	2						c.(901-903)Gtg>Atg		solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1							99.0	96.0	97.0					22																	19163678		2203	4300	6503	SO:0001583	missense	6576				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding	g.chr22:19163678C>T	U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"""Solute carriers"""	10979	protein-coding gene	gene with protein product		190315	"""solute carrier family 20 (mitochondrial citrate transporter), member 3"""	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.901G>A	22.37:g.19163678C>T	ENSP00000215882:p.Val301Met					SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M	p.V301M	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN		Lung(27;0.124)	9	1057	-	Colorectal(54;0.0993)	all_lung(157;9.94e-09)	301					A8K8E8|Q9BSK6	Missense_Mutation	SNP	ENST00000215882.5	37	c.901G>A	CCDS13758.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640612	0.29157	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.79141	-1.24;-1.24	5.12	5.12	0.69794	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	N	0.03294	-0.36	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.25987	0.065;0.065	T	0.57802	-0.7748	10	0.02654	T	1	-17.2283	18.7549	0.91828	0.0:1.0:0.0:0.0	.	308;301	D9HTE9;P53007	.;TXTP_HUMAN	M	301;198	ENSP00000215882:V301M;ENSP00000401480:V198M	ENSP00000215882:V301M	V	-	1	0	SLC25A1	17543678	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.596000	0.82721	2.661000	0.90470	0.561000	0.74099	GTG		0.602	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316441.1	NM_005984		93	506	0	0	0	1	0	93	506				
C4orf33	132321	broad.mit.edu	37	4	130032917	130032917	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130032917C>A	ENST00000281146.5	+	6	1292	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	191										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAATCAGACCTGTGGCTAAT	0.328																																						ENST00000281146.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(571-573)Ctg>Atg		chromosome 4 open reading frame 33							93.0	91.0	91.0					4																	130032917		2203	4300	6503	SO:0001583	missense	132321							g.chr4:130032917C>A	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.571C>A	4.37:g.130032917C>A	ENSP00000281146:p.Leu191Met					C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	p.L191M	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN			6	1292	+			191					D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	37	c.571C>A	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448617	0.63178	.	.	ENSG00000151470	ENST00000281146;ENST00000425929	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58429	-0.7638	10	0.66056	D	0.02	-42.9836	18.7332	0.91744	0.0:1.0:0.0:0.0	.	191	Q8N1A6	CD033_HUMAN	M	191	ENSP00000281146:L191M;ENSP00000401090:L191M	ENSP00000281146:L191M	L	+	1	2	C4orf33	130252367	1.000000	0.71417	0.999000	0.59377	0.155000	0.21991	2.553000	0.45837	2.722000	0.93159	0.650000	0.86243	CTG		0.328	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487		45	225	1	0	9.45407e-15	1	1.02924e-14	45	225				
MAPKBP1	23005	broad.mit.edu	37	15	42107871	42107871	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42107871A>G	ENST00000456763.2	+	13	1581	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D456G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	462										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCCTGCTGGACACAGAGCTG	0.557																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1366-1368)gAc>gGc		mitogen-activated protein kinase binding protein 1							61.0	51.0	55.0					15																	42107871		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107871A>G	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1385A>G	15.37:g.42107871A>G	ENSP00000393099:p.Asp462Gly					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D462G	p.D456G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1653	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	462					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1367A>G	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	19.42	3.824024	0.71143	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.48522	0.81;0.94;1.09;0.87;1.03	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	N	0.24115	0.695	0.80722	D	1	D;D;B;B	0.89917	1.0;1.0;0.007;0.005	D;D;B;B	0.91635	0.998;0.999;0.008;0.008	T	0.59878	-0.7371	10	0.54805	T	0.06	-23.4698	15.9544	0.79871	1.0:0.0:0.0:0.0	.	295;456;462;456	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	G	456;339;295;462;456	ENSP00000397570:D456G;ENSP00000221214:D339G;ENSP00000260357:D295G;ENSP00000393099:D462G;ENSP00000426154:D456G	ENSP00000221214:D339G	D	+	2	0	MAPKBP1	39895163	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.238000	0.65366	2.176000	0.68965	0.374000	0.22700	GAC		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		18	95	0	0	0	1	0	18	95				
PRKD3	23683	broad.mit.edu	37	2	37509721	37509721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509721G>A	ENST00000379066.1	-	7	1714	c.952C>T	c.(952-954)Cca>Tca	p.P318S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S			O94806	KPCD3_HUMAN	protein kinase D3	318					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CAGTCTCTTGGTACTTTTGAT	0.318																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(952-954)Cca>Tca		protein kinase D3							117.0	117.0	117.0					2																	37509721		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37509721G>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.952C>T	2.37:g.37509721G>A	ENSP00000368356:p.Pro318Ser					PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S	p.P318S			O94806	KPCD3_HUMAN			7	1714	-		all_hematologic(82;0.21)	318					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.952C>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320904	0.95682	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.92911	-3.13;-3.13	5.62	5.62	0.85841	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.988;0.994	D	0.95794	0.8827	10	0.87932	D	0	-14.6863	20.024	0.97514	0.0:0.0:1.0:0.0	.	318;318	O94806-2;O94806	.;KPCD3_HUMAN	S	318	ENSP00000368356:P318S;ENSP00000234179:P318S	ENSP00000234179:P318S	P	-	1	0	PRKD3	37363225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.809000	0.96659	0.655000	0.94253	CCA		0.318	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		104	325	0	0	0	1	0	104	325				
ZNF609	23060	broad.mit.edu	37	15	64962610	64962610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64962610C>T	ENST00000326648.3	+	3	1167	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	347						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGACTGCACACGACATGATTG	0.403																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1039-1041)Cga>Tga		zinc finger protein 609							259.0	213.0	229.0					15																	64962610		2203	4299	6502	SO:0001587	stop_gained	23060					nucleus	zinc ion binding	g.chr15:64962610C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1039C>T	15.37:g.64962610C>T	ENSP00000316527:p.Arg347*					ZNF609_ENST00000559364.1_3'UTR	p.R347*	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			3	1167	+			347					Q0D2I2	Nonsense_Mutation	SNP	ENST00000326648.3	37	c.1039C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.093044	0.97276	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.34	3.32	0.38043	.	0.059257	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8235	13.6805	0.62481	0.2903:0.7097:0.0:0.0	.	.	.	.	X	347	.	ENSP00000316527:R347X	R	+	1	2	ZNF609	62749663	0.984000	0.35163	0.950000	0.38849	0.991000	0.79684	1.511000	0.35801	0.516000	0.28340	0.655000	0.94253	CGA		0.403	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		66	321	0	0	0	1	0	66	321				
DDB1	1642	broad.mit.edu	37	11	61068386	61068386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068386G>A	ENST00000301764.7	-	26	3631	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	DDB1_ENST00000538470.1_Silent_p.T125T|DDB1_ENST00000450997.2_Silent_p.T389T|DDB1_ENST00000451943.2_Silent_p.T65T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1078	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTCCGCTCGGTGTGAAAGG	0.512								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3232-3234)acC>acT	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							158.0	138.0	144.0					11																	61068386		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61068386G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3234C>T	11.37:g.61068386G>A						DDB1_ENST00000538470.1_Silent_p.T125T|DDB1_ENST00000451943.2_Silent_p.T65T|DDB1_ENST00000450997.2_Silent_p.T389T	p.T1078T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			26	3631	-			1078			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.3234C>T	CCDS31576.1																																																																																				0.512	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		14	323	0	0	0	1	0	14	323				
PKHD1	5314	broad.mit.edu	37	6	51491841	51491841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51491841G>A	ENST00000371117.3	-	66	12014	c.11739C>T	c.(11737-11739)cgC>cgT	p.R3913R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3913			R -> H (in dbSNP:rs2661487).		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGATTCTCGGCGTTTGGATG	0.438																																						ENST00000371117.3																			1	Substitution - coding silent(1)	p.R3913R(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11737-11739)cgC>cgT		polycystic kidney and hepatic disease 1 (autosomal recessive)							286.0	273.0	277.0					6																	51491841		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51491841G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11739C>T	6.37:g.51491841G>A							p.R3913R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			66	12014	-	Lung NSC(77;0.0605)		3913		R -> H (in dbSNP:rs2661487).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11739C>T	CCDS4935.1																																																																																				0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		128	620	0	0	0	1	0	128	620				
NOTCH1	4851	broad.mit.edu	37	9	139391890	139391890	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391890C>T	ENST00000277541.6	-	34	6376	c.6301G>A	c.(6301-6303)Gca>Aca	p.A2101T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2101					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)		CGCTCCTGTGCGATGTCGCGC	0.682			"""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.(6301-6303)Gca>Aca		notch 1							38.0	40.0	39.0					9																	139391890		2190	4275	6465	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.chr9:139391890C>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.6301G>A	9.37:g.139391890C>T	ENSP00000277541:p.Ala2101Thr	HNSCC(8;0.001)					p.A2101T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6376	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2101					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6301G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323403	0.81580	.	.	ENSG00000148400	ENST00000277541	T	0.74002	-0.8	5.42	5.42	0.78866	Ankyrin repeat-containing domain (3);	0.114264	0.64402	D	0.000015	D	0.87533	0.6201	M	0.90814	3.15	0.80722	D	1	D	0.63046	0.992	P	0.59221	0.854	D	0.89877	0.4027	10	0.87932	D	0	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	2101	P46531	NOTC1_HUMAN	T	2101	ENSP00000277541:A2101T	ENSP00000277541:A2101T	A	-	1	0	NOTCH1	138511711	1.000000	0.71417	0.585000	0.28666	0.317000	0.28152	5.899000	0.69846	2.703000	0.92315	0.561000	0.74099	GCA		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		66	276	0	0	0	1	0	66	276				
GREB1	9687	broad.mit.edu	37	2	11738934	11738934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11738934C>T	ENST00000381486.2	+	15	2581	c.2281C>T	c.(2281-2283)Ccg>Tcg	p.P761S	GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	761						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTCCAGAACCCGCATACACT	0.433																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2281-2283)Ccg>Tcg		growth regulation by estrogen in breast cancer 1							185.0	180.0	182.0					2																	11738934		1928	4130	6058	SO:0001583	missense	9687					integral to membrane		g.chr2:11738934C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2281C>T	2.37:g.11738934C>T	ENSP00000370896:p.Pro761Ser					GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	p.P761S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	15	2581	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		761					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.2281C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126189	0.20959	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.48522	3.14;3.14;0.81	5.04	5.04	0.67666	.	0.208574	0.42821	D	0.000660	T	0.65883	0.2734	L	0.60845	1.875	0.58432	D	0.999997	P;D	0.89917	0.884;1.0	B;D	0.87578	0.292;0.998	T	0.63804	-0.6554	10	0.36615	T	0.2	-49.1598	18.3867	0.90469	0.0:1.0:0.0:0.0	.	395;761	C9JIG0;Q4ZG55	.;GREB1_HUMAN	S	761;761;395	ENSP00000370896:P761S;ENSP00000234142:P761S;ENSP00000403886:P395S	ENSP00000234142:P761S	P	+	1	0	GREB1	11656385	1.000000	0.71417	0.543000	0.28128	0.044000	0.14063	4.476000	0.60216	2.344000	0.79699	0.563000	0.77884	CCG		0.433	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		179	499	0	0	0	1	0	179	499				
LINGO2	158038	broad.mit.edu	37	9	27950337	27950337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27950337G>A	ENST00000379992.2	-	6	782	c.333C>T	c.(331-333)cgC>cgT	p.R111R	LINGO2_ENST00000308675.3_Silent_p.R111R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	111						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCCTTTTAGGCGGAGGGAAC	0.438																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(331-333)cgC>cgT		leucine rich repeat and Ig domain containing 2							143.0	142.0	143.0					9																	27950337		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27950337G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.333C>T	9.37:g.27950337G>A						LINGO2_ENST00000308675.3_Silent_p.R111R	p.R111R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	782	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	111					A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.333C>T	CCDS6524.1																																																																																				0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		23	615	0	0	0	1	0	23	615				
CACNA1S	779	broad.mit.edu	37	1	201035357	201035357	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035357C>A	ENST00000362061.3	-	21	2971	c.2745G>T	c.(2743-2745)aaG>aaT	p.K915N	CACNA1S_ENST00000367338.3_Splice_Site_p.K915N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	915					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTCTCACCTTCAACCCCT	0.652																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.e21+1		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						66.0	68.0	67.0					1																	201035357		2203	4300	6503	SO:0001630	splice_region_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201035357C>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2745+1G>T	1.37:g.201035357C>A						CACNA1S_ENST00000367338.3_Splice_Site_p.K915_splice	p.K915_splice	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			21	2971	-			915					A4IF51|B1ALM2|Q12896|Q13934	Splice_Site	SNP	ENST00000362061.3	37	c.2745_splice	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985117	0.74474	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98732	-5.1;-5.1	3.91	3.91	0.45181	Ion transport (1);	0.102561	0.64402	D	0.000004	D	0.99339	0.9768	H	0.97564	4.03	0.54753	D	0.999986	P	0.44877	0.845	P	0.56216	0.794	D	0.98563	1.0642	9	.	.	.	.	16.249	0.82472	0.0:1.0:0.0:0.0	.	915	Q13698	CAC1S_HUMAN	N	915	ENSP00000355192:K915N;ENSP00000356307:K915N	.	K	-	3	2	CACNA1S	199301980	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.979000	0.70508	1.884000	0.54569	0.455000	0.32223	AAG		0.652	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	Missense_Mutation	77	395	1	0	1.71382e-40	1	2.07847e-40	77	395				
SOX6	55553	broad.mit.edu	37	11	16007925	16007925	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16007925A>G	ENST00000352083.6	-	15	2085	c.2008T>C	c.(2008-2010)Tat>Cat	p.Y670H	SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H|SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	670					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTCATAATAAGGTTGCTTC	0.438																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(2008-2010)Tat>Cat		SRY (sex determining region Y)-box 6							151.0	149.0	150.0					11																	16007925		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007925A>G	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2008T>C	11.37:g.16007925A>G	ENSP00000339876:p.Tyr670His					SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H|SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H	p.Y670H			P35712	SOX6_HUMAN			15	2085	-			670					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.2008T>C		.	.	.	.	.	.	.	.	.	.	A	21.8	4.203537	0.79127	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	5.38	5.38	0.77491	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.116551	0.64402	D	0.000011	D	0.99573	0.9846	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.975;0.996;0.994	D	0.97910	1.0308	10	0.87932	D	0	.	15.3873	0.74711	1.0:0.0:0.0:0.0	.	650;670;646	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	650;670;650;643;646;670	ENSP00000324948:Y650H;ENSP00000339876:Y670H;ENSP00000379644:Y650H;ENSP00000432134:Y643H;ENSP00000434455:Y646H;ENSP00000433233:Y670H	ENSP00000324948:Y650H	Y	-	1	0	SOX6	15964501	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.339000	0.96797	2.047000	0.60756	0.533000	0.62120	TAT		0.438	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		102	453	0	0	0	1	0	102	453				
CDKL3	51265	broad.mit.edu	37	5	133644398	133644398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133644398G>A	ENST00000265334.4	-	8	1020	c.902C>T	c.(901-903)gCt>gTt	p.A301V	CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000521118.1_Missense_Mutation_p.A301V|CDKL3_ENST00000609383.1_Missense_Mutation_p.A6V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V|CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000609654.1_Missense_Mutation_p.A112V	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	301					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTAATTTAGCTTTCAGTTC	0.308																																						ENST00000521118.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(901-903)gCt>gTt		cyclin-dependent kinase-like 3							39.0	37.0	37.0					5																	133644398		1824	4076	5900	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133644398G>A	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.902C>T	5.37:g.133644398G>A	ENSP00000265334:p.Ala301Val					CDKL3_ENST00000518409.1_5'UTR|CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000265334.4_Missense_Mutation_p.A301V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V	p.A301V			Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1016	-			301					D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.902C>T	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002233	0.54254	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.74315	0.24;0.19;-0.78;-0.61;-0.83;-0.79;-0.79	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000006	T	0.78329	0.4266	L	0.32530	0.975	0.29057	N	0.884161	D;D;D;D;P	0.89917	0.986;1.0;0.999;0.978;0.877	P;D;D;P;B	0.72338	0.797;0.977;0.974;0.651;0.395	T	0.72795	-0.4185	10	0.38643	T	0.18	-23.5142	12.9356	0.58311	0.0:0.1628:0.8372:0.0	.	112;6;6;112;301	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	V	6;6;301;112;301;301;301	ENSP00000441545:A6V;ENSP00000399807:A6V;ENSP00000265334:A301V;ENSP00000428500:A112V;ENSP00000428689:A301V;ENSP00000430496:A301V;ENSP00000395559:A301V	ENSP00000265334:A301V	A	-	2	0	CDKL3	133672297	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.454000	0.52986	2.676000	0.91093	0.555000	0.69702	GCT		0.308	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		11	97	0	0	0	1	0	11	97				
TRIM47	91107	broad.mit.edu	37	17	73871062	73871062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73871062G>A	ENST00000254816.2	-	6	1445	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	TRIM47_ENST00000587339.1_Silent_p.G235G|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	473	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCACCCTCGCCCAGCACCT	0.597																																						ENST00000254816.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1417-1419)ggC>ggT		tripartite motif containing 47							63.0	60.0	61.0					17																	73871062		2203	4300	6503	SO:0001819	synonymous_variant	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73871062G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1419C>T	17.37:g.73871062G>A						TRIM47_ENST00000587339.1_Silent_p.G235G	p.G473G	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1445	-			473			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	ENST00000254816.2	37	c.1419C>T	CCDS32737.1																																																																																				0.597	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			54	253	0	0	0	1	0	54	253				
KIAA0922	23240	broad.mit.edu	37	4	154553974	154553974	+	Missense_Mutation	SNP	G	G	A	rs548174005		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154553974G>A	ENST00000409663.3	+	32	4361	c.4309G>A	c.(4309-4311)Gcc>Acc	p.A1437T	KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1438T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1437						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGGAGTCGGCCCCGGTTCA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19311	0.0		0.0	False		,,,				2504	0.0					ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4309-4311)Gcc>Acc		KIAA0922							131.0	103.0	113.0					4																	154553974		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154553974G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4309G>A	4.37:g.154553974G>A	ENSP00000386574:p.Ala1437Thr					KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1438T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T	p.A1437T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			32	4361	+	all_hematologic(180;0.093)	Renal(120;0.118)	1437					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4309G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716702	0.15306	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18174	2.5;2.23;2.5;2.23	5.09	1.23	0.21249	.	0.662406	0.15768	N	0.245617	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	P;B;B	0.35011	0.48;0.035;0.021	B;B;B	0.27715	0.082;0.009;0.004	T	0.32455	-0.9906	10	0.02654	T	1	-0.261	11.6361	0.51204	0.0919:0.4304:0.4776:0.0	.	1354;1438;1437	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	T	1437;1354;1438;1215	ENSP00000386574:A1437T;ENSP00000409663:A1354T;ENSP00000386787:A1438T;ENSP00000240487:A1215T	ENSP00000240487:A1215T	A	+	1	0	KIAA0922	154773424	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.780000	0.26760	-0.099000	0.12263	0.563000	0.77884	GCC		0.512	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		71	292	0	0	0	1	0	71	292				
SIRPA	140885	broad.mit.edu	37	20	1896098	1896098	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1896098C>A	ENST00000358771.4	+	2	585	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S|SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	145					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCTGTCTGTGCGCGGTGAGTA	0.542																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(433-435)Cgc>Agc		signal-regulatory protein alpha							103.0	91.0	95.0					20																	1896098		2203	4298	6501	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1896098C>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.433C>A	20.37:g.1896098C>A	ENSP00000351621:p.Arg145Ser					SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S|SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S	p.R145S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	2	585	+			145					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.433C>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393833	0.11638	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02085	4.46;4.46;4.46	5.11	-3.87	0.04218	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.012980	0.07889	N	0.970802	T	0.01189	0.0039	N	0.01705	-0.755	0.09310	N	1	B;B;B	0.23316	0.005;0.083;0.005	B;B;B	0.13407	0.005;0.009;0.005	T	0.48186	-0.9057	10	0.16420	T	0.52	.	17.2156	0.86943	0.2185:0.7815:0.0:0.0	.	125;145;145	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	S	145	ENSP00000382941:R145S;ENSP00000348307:R145S;ENSP00000351621:R145S	ENSP00000348307:R145S	R	+	1	0	SIRPA	1844098	0.027000	0.19231	0.010000	0.14722	0.037000	0.13140	-0.010000	0.12743	-0.921000	0.03794	-0.410000	0.06199	CGC		0.542	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		29	406	1	0	2.32173e-10	1	2.46079e-10	29	406				
TTPAL	79183	broad.mit.edu	37	20	43117903	43117903	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43117903G>A	ENST00000372904.3	+	6	893		c.e6-1		TTPAL_ENST00000372906.2_Splice_Site|TTPAL_ENST00000262605.4_Splice_Site	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like							intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTCCCTTTTAGTTCTTCCTCC	0.463																																						ENST00000372904.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						c.e6-1		tocopherol (alpha) transfer protein-like							48.0	45.0	46.0					20																	43117903		2203	4300	6503	SO:0001630	splice_region_variant	79183					intracellular	transporter activity	g.chr20:43117903G>A	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.751-1G>A	20.37:g.43117903G>A						TTPAL_ENST00000262605.4_Splice_Site|TTPAL_ENST00000372906.2_Splice_Site		NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN			6	893	+								E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Splice_Site	SNP	ENST00000372904.3	37		CCDS13332.2	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713898	0.68730	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000372906;ENST00000456317	.	.	.	6.04	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0869	0.72162	0.0673:0.0:0.9327:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTPAL	42551317	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.599000	0.98280	1.571000	0.49722	0.563000	0.77884	.		0.463	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331	Intron	42	214	0	0	0	1	0	42	214				
PLEC	5339	broad.mit.edu	37	8	144996821	144996821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144996821C>A	ENST00000322810.4	-	31	7856	c.7687G>T	c.(7687-7689)Gag>Tag	p.E2563*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2563	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCACCTTCTCCTGGGTGGCG	0.672																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7687-7689)Gag>Tag		plectin							39.0	43.0	42.0					8																	144996821		2185	4279	6464	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996821C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7687G>T	8.37:g.144996821C>A	ENSP00000323856:p.Glu2563*					PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*	p.E2563*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7856	-			2563			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.7687G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	50	16.408845	0.99862	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.29	4.29	0.51040	.	0.167572	0.35970	U	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	16.518	0.84306	0.0:1.0:0.0:0.0	.	.	.	.	X	2426;2430;2426;2394;2563;2404;2412;2453;2449	.	ENSP00000323856:E2563X	E	-	1	0	PLEC	145068809	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	2.154000	0.42291	2.228000	0.72767	0.549000	0.68633	GAG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		26	123	1	0	1.77063e-15	1	1.9355e-15	26	123				
ZNF462	58499	broad.mit.edu	37	9	109746472	109746472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109746472C>T	ENST00000277225.5	+	10	7127	c.6838C>T	c.(6838-6840)Cgt>Tgt	p.R2280C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2280					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R2280C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACAGAAGAGCGTGTTGTCCC	0.418																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.R2280C(1)	large_intestine(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6838-6840)Cgt>Tgt		zinc finger protein 462							84.0	81.0	82.0					9																	109746472		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109746472C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6838C>T	9.37:g.109746472C>T	ENSP00000277225:p.Arg2280Cys					ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C	p.R2280C			Q96JM2	ZN462_HUMAN			10	7127	+			2280					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6838C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712064	0.68730	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.17054	3.29;3.78;3.87;3.85;2.3	5.67	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50127	-0.8864	10	0.87932	D	0	.	14.8015	0.69919	0.5116:0.4884:0.0:0.0	.	2340;2280	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	2280;2340;1223;1186;237	ENSP00000277225:R2280C;ENSP00000414570:R2340C;ENSP00000363818:R1223C;ENSP00000397306:R1186C;ENSP00000439771:R237C	ENSP00000277225:R2280C	R	+	1	0	ZNF462	108786293	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	1.379000	0.34340	1.293000	0.44690	0.655000	0.94253	CGT		0.418	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		47	278	0	0	0	1	0	47	278				
CDCP2	200008	broad.mit.edu	37	1	54606931	54606931	+	Silent	SNP	G	G	A	rs201306595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54606931G>A	ENST00000371330.1	-	3	1450	c.603C>T	c.(601-603)gaC>gaT	p.D201D	RP11-446E24.4_ENST00000525949.1_5'UTR|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	201	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CAGCCACGTAGTCATAGGTGC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		19868	0.0		0.001	False		,,,				2504	0.0					ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(601-603)gaC>gaT		CUB domain containing protein 2							72.0	66.0	68.0					1																	54606931		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54606931G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.603C>T	1.37:g.54606931G>A						RP11-446E24.4_ENST00000525949.1_5'UTR	p.D201D	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			3	1450	-			201			CUB 2.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.603C>T	CCDS588.2																																																																																				0.662	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		49	209	0	0	0	1	0	49	209				
RYR2	6262	broad.mit.edu	37	1	237777341	237777341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237777341C>T	ENST00000366574.2	+	37	5230	c.4913C>T	c.(4912-4914)tCt>tTt	p.S1638F	RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F|RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1638	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTACAGATCTGTTGACATC	0.418																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4912-4914)tCt>tTt		ryanodine receptor 2 (cardiac)							48.0	45.0	46.0					1																	237777341		1866	4110	5976	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777341C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4913C>T	1.37:g.237777341C>T	ENSP00000355533:p.Ser1638Phe					RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F|RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F	p.S1638F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5230	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1638			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4913C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953784	0.53293	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96913	-4.17;-4.14;-4.17	5.56	5.56	0.83823	.	0.092047	0.44285	D	0.000463	D	0.92606	0.7651	L	0.32530	0.975	0.80722	D	1	P	0.37864	0.61	B	0.31812	0.136	D	0.93184	0.6577	10	0.87932	D	0	.	15.0638	0.71977	0.0:0.8586:0.1414:0.0	.	1638	Q92736	RYR2_HUMAN	F	1638;1636;1622	ENSP00000355533:S1638F;ENSP00000353174:S1636F;ENSP00000443798:S1622F	ENSP00000353174:S1636F	S	+	2	0	RYR2	235843964	0.980000	0.34600	0.993000	0.49108	0.973000	0.67179	2.512000	0.45485	2.613000	0.88420	0.655000	0.94253	TCT		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		28	164	0	0	0	1	0	28	164				
PRRC2A	7916	broad.mit.edu	37	6	31595695	31595695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31595695C>T	ENST00000376033.2	+	12	1678	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R482C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	482	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCAAGAAGAGCGCCGGGCAGC	0.632																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1444-1446)Cgc>Tgc		proline-rich coiled-coil 2A							78.0	88.0	84.0					6																	31595695		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595695C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1444C>T	6.37:g.31595695C>T	ENSP00000365201:p.Arg482Cys					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R482C	p.R482C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			12	1678	+			482			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1444C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465879	0.26335	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.16073	2.37;2.37	4.38	4.38	0.52667	.	0.000000	0.49305	D	0.000154	T	0.28699	0.0711	M	0.67397	2.05	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.01643	-1.1305	10	0.87932	D	0	-8.4093	11.4533	0.50167	0.1804:0.8196:0.0:0.0	.	482	P48634	PRC2A_HUMAN	C	482;471;482;482	ENSP00000365175:R482C;ENSP00000365201:R482C	ENSP00000365175:R482C	R	+	1	0	PRRC2A	31703674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.351000	0.34022	2.453000	0.82957	0.561000	0.74099	CGC		0.632	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		164	645	0	0	0	1	0	164	645				
SEC61A2	55176	broad.mit.edu	37	10	12197864	12197864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12197864G>A	ENST00000298428.9	+	7	639	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T|SEC61A2_ENST00000379033.3_Missense_Mutation_p.A162T|SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	184					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCTCTTTATTGCCACCAACAT	0.498																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(484-486)Gcc>Acc		Sec61 alpha 2 subunit (S. cerevisiae)							279.0	245.0	257.0					10																	12197864		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12197864G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.550G>A	10.37:g.12197864G>A	ENSP00000298428:p.Ala184Thr					SEC61A2_ENST00000298428.9_Missense_Mutation_p.A184T|SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T	p.A162T	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			6	631	+		Renal(717;0.228)	184					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.484G>A	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.493699|5.493699	0.96339|0.96339	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020|ENST00000419021	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.85737|0.85737	0.5766|0.5766	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D;P;D|.	0.64830|.	0.994;0.936;0.981|.	D;D;D|.	0.67382|.	0.909;0.921;0.951|.	D|D	0.87420|0.87420	0.2381|0.2381	9|5	0.41790|.	T|.	0.15|.	-12.905|-12.905	19.2577|19.2577	0.93952|0.93952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;184;184|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	T|Y	162;184;184;184|65	.|.	ENSP00000298428:A184T|.	A|C	+|+	1|2	0|0	SEC61A2|SEC61A2	12237870|12237870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.835000|9.835000	0.99442|0.99442	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.498	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		208	910	0	0	0	1	0	208	910				
PTPRS	5802	broad.mit.edu	37	19	5212104	5212104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5212104C>T	ENST00000587303.1	-	31	5026	c.4927G>A	c.(4927-4929)Gag>Aag	p.E1643K	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1644K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1643	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGCAGGGCCTCGTGGATGAAG	0.607																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(4930-4932)Gag>Aag		protein tyrosine phosphatase, receptor type, S							83.0	78.0	79.0					19																	5212104		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5212104C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4927G>A	19.37:g.5212104C>T	ENSP00000467537:p.Glu1643Lys					PTPRS_ENST00000587303.1_Missense_Mutation_p.E1643K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K	p.E1644K			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	32	5163	-			1643			Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.4930G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517167	0.64634	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	2.47	2.47	0.30058	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.177742	0.35772	U	0.002986	T	0.28067	0.0692	N	0.12746	0.255	0.40297	D	0.978561	P;B;P;D;P;P	0.53312	0.703;0.154;0.832;0.959;0.894;0.878	P;B;P;P;P;P	0.53861	0.495;0.1;0.495;0.615;0.736;0.501	T	0.31392	-0.9945	10	0.72032	D	0.01	.	13.3072	0.60359	0.0:1.0:0.0:0.0	.	1225;1196;1200;1605;1643;1238	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	1238;1644;1643;1643;1634;1623;1605;1225;1200;1196	ENSP00000361489:E1644K;ENSP00000349932:E1643K;ENSP00000262963:E1623K;ENSP00000269907:E1605K;ENSP00000327313:E1196K	ENSP00000262963:E1623K	E	-	1	0	PTPRS	5163104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.800000	0.69108	1.399000	0.46721	0.478000	0.44815	GAG		0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			73	291	0	0	0	1	0	73	291				
MFSD4	148808	broad.mit.edu	37	1	205553121	205553121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205553121G>T	ENST00000367147.4	+	4	822	c.729G>T	c.(727-729)aaG>aaT	p.K243N	MFSD4_ENST00000539267.1_Missense_Mutation_p.K243N|MFSD4_ENST00000536357.1_Missense_Mutation_p.K156N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	243					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGCTGTCCAAGGAGCGGCTGC	0.637																																						ENST00000367147.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(727-729)aaG>aaT		major facilitator superfamily domain containing 4							62.0	60.0	61.0					1																	205553121		2203	4300	6503	SO:0001583	missense	148808				transmembrane transport	integral to membrane		g.chr1:205553121G>T	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.729G>T	1.37:g.205553121G>T	ENSP00000356115:p.Lys243Asn					MFSD4_ENST00000539267.1_Missense_Mutation_p.K243N|MFSD4_ENST00000536357.1_Missense_Mutation_p.K156N	p.K243N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		4	822	+	Breast(84;0.07)		243					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	c.729G>T	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659883	0.47572	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80653	1.68;1.69;-1.4	5.57	4.6	0.57074	Major facilitator superfamily domain, general substrate transporter (1);	0.046302	0.85682	D	0.000000	D	0.85133	0.5627	L	0.58101	1.795	0.46774	D	0.999195	D;B;D	0.89917	1.0;0.07;0.97	D;B;P	0.87578	0.998;0.023;0.725	T	0.82382	-0.0485	10	0.29301	T	0.29	-11.9022	8.5804	0.33626	0.1292:0.0:0.8708:0.0	.	188;156;243	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	N	243;243;156	ENSP00000356115:K243N;ENSP00000445329:K243N;ENSP00000440183:K156N	ENSP00000356115:K243N	K	+	3	2	MFSD4	203819744	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.507000	0.45442	1.199000	0.43173	0.561000	0.74099	AAG		0.637	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		8	442	1	0	0.27861	1	0.278732	8	442				
ZIM2	23619	broad.mit.edu	37	19	57286700	57286700	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286700T>C	ENST00000391708.3	-	12	1482	c.940A>G	c.(940-942)Ata>Gta	p.I314V	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	314					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTCGTACATATTCCAGGAGCA	0.443																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(940-942)Ata>Gta		zinc finger, imprinted 2							134.0	125.0	128.0					19																	57286700		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286700T>C	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.940A>G	19.37:g.57286700T>C	ENSP00000375589:p.Ile314Val					AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V	p.I314V	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1482	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.940A>G	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	T	2.426	-0.331942	0.05314	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04049	3.72;3.72	3.69	-1.2	0.09554	.	.	.	.	.	T	0.02649	0.0080	N	0.12182	0.205	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.39210	-0.9625	8	0.72032	D	0.01	.	4.196	0.10443	0.0:0.4099:0.2051:0.385	.	314	Q9NZV7	ZIM2_HUMAN	V	314	ENSP00000375589:I314V;ENSP00000221722:I314V	ENSP00000221722:I314V	I	-	1	0	ZIM2	61978512	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.818000	0.04467	-0.301000	0.08882	0.533000	0.62120	ATA		0.443	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			16	385	0	0	0	1	0	16	385				
TUBB1	81027	broad.mit.edu	37	20	57598802	57598802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598802C>T	ENST00000217133.1	+	4	589	c.320C>T	c.(319-321)aCg>aTg	p.T107M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	107					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCACTACACGGAGGGAGCC	0.577																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(319-321)aCg>aTg		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						80.0	88.0	85.0					20																	57598802		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598802C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.320C>T	20.37:g.57598802C>T	ENSP00000217133:p.Thr107Met						p.T107M	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	589	+	all_lung(29;0.00711)		107						Missense_Mutation	SNP	ENST00000217133.1	37	c.320C>T	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529552	0.64860	.	.	ENSG00000101162	ENST00000217133	T	0.70282	-0.47	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94935	0.8086	10	0.87932	D	0	.	18.1144	0.89546	0.0:1.0:0.0:0.0	.	107	Q9H4B7	TBB1_HUMAN	M	107	ENSP00000217133:T107M	ENSP00000217133:T107M	T	+	2	0	TUBB1	57032197	1.000000	0.71417	0.961000	0.40146	0.364000	0.29643	7.784000	0.85713	2.537000	0.85549	0.655000	0.94253	ACG		0.577	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		136	485	0	0	0	1	0	136	485				
SEC24C	9632	broad.mit.edu	37	10	75520113	75520113	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520113G>A	ENST00000339365.2	+	6	981	c.819G>A	c.(817-819)ccG>ccA	p.P273P	SEC24C_ENST00000546025.1_Silent_p.P131P|SEC24C_ENST00000345254.4_Silent_p.P273P|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.P131P|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	273					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)|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(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCACTCCCCGCAGCAGCCAG	0.557																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(817-819)ccG>ccA		SEC24 family member C							56.0	61.0	59.0					10																	75520113		2203	4300	6503	SO:0001819	synonymous_variant	9632				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	protein binding|zinc ion binding	g.chr10:75520113G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.819G>A	10.37:g.75520113G>A						SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Silent_p.P131P|SEC24C_ENST00000411652.2_Silent_p.P131P|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.P273P	p.P273P	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			6	981	+	Prostate(51;0.0112)		273					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.819G>A	CCDS7332.1																																																																																				0.557	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			83	425	0	0	0	1	0	83	425				
WASF2	10163	broad.mit.edu	37	1	27741358	27741358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27741358C>T	ENST00000430629.2	-	6	852	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	213					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTGGACTCCACAAATTCTTGC	0.443																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(637-639)Gtg>Atg		WAS protein family, member 2							272.0	246.0	255.0					1																	27741358		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27741358C>T	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.637G>A	1.37:g.27741358C>T	ENSP00000396211:p.Val213Met					WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	6	852	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	213					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.637G>A	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407806	0.42715	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.43688	0.94;0.94	5.3	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.79784	0.993;0.437	T	0.44922	-0.9296	10	0.40728	T	0.16	-7.0889	12.7663	0.57393	0.0:0.9206:0.0:0.0793	.	213;213	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	M	213	ENSP00000396211:V213M;ENSP00000439883:V213M	ENSP00000396211:V213M	V	-	1	0	WASF2	27613945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.608000	0.67654	1.484000	0.48361	0.491000	0.48974	GTG		0.443	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		33	586	0	0	0	1	0	33	586				
PPFIA2	8499	broad.mit.edu	37	12	81661781	81661781	+	Silent	SNP	G	G	A	rs376867920		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81661781G>A	ENST00000549396.1	-	29	3556	c.3396C>T	c.(3394-3396)agC>agT	p.S1132S	PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000552948.1_Silent_p.S1111S|PPFIA2_ENST00000550584.2_Silent_p.S1132S|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000541017.1_Silent_p.S318S|PPFIA2_ENST00000407050.4_Silent_p.S1031S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000333447.7_Silent_p.S1120S	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	1132	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						CATGCACACCGCTCTCAAGTA	0.428																																						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.(3394-3396)agC>agT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2		G	,,,,,,,,	0,3794		0,0,1897	93.0	88.0	89.0		3396,3351,3333,3378,3093,3081,2004,954,3396	-2.7	1.0	12		89	1,8303		0,1,4151	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_001220479.1,NM_001220480.1,NM_003625.3	,,,,,,,,	0,1,6048	AA,AG,GG		0.012,0.0,0.0083	,,,,,,,,	1132/1248,1117/1233,1111/1237,1126/1252,1031/1157,1027/1153,668/784,318/444,1132/1258	81661781	1,12097	1897	4152	6049	SO:0001819	synonymous_variant	8499							g.chr12:81661781G>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.3396C>T	12.37:g.81661781G>A						PPFIA2_ENST00000333447.7_Silent_p.S1120S|PPFIA2_ENST00000541017.1_Silent_p.S318S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Silent_p.S1132S|PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000407050.4_Silent_p.S1031S|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000552948.1_Silent_p.S1111S	p.S1132S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			28	3691	-			1031					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.3396C>T	CCDS55857.1																																																																																				0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			10	53	0	0	0	1	0	10	53				
ERVW-1	30816	broad.mit.edu	37	7	92098256	92098256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92098256G>A	ENST00000493463.2	-	1	2363	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	ERVW-1_ENST00000603053.1_Silent_p.I480I|ERVW-1_ENST00000604270.1_5'UTR|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	480	Essential for the fusiogenic function.				anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						ttacagcttcgattctggaag	0.468																																						ENST00000493463.2																			0				endometrium(1)|large_intestine(1)|lung(15)	17						c.(1438-1440)atC>atT									29.0	31.0	31.0					7																	92098256		2180	4252	6432	SO:0001819	synonymous_variant	0				syncytium formation	integral to membrane|plasma membrane|virion		g.chr7:92098256G>A	AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1440C>T	7.37:g.92098256G>A						ERVW-1_ENST00000603053.1_Silent_p.I480I|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_5'UTR	p.I480I	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN			1	2363	-			480			Essential for the fusiogenic function.		B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Silent	SNP	ENST00000493463.2	37	c.1440C>T	CCDS5626.1																																																																																				0.468	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254009.2	NM_014590		58	210	0	0	0	1	0	58	210				
FMR1NB	158521	broad.mit.edu	37	X	147063094	147063094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147063094C>T	ENST00000370467.3	+	1	246	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	58						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGATGGCGGGAATCTCT	0.557																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(172-174)Cgg>Tgg		fragile X mental retardation 1 neighbor							105.0	96.0	99.0					X																	147063094		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147063094C>T		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.172C>T	X.37:g.147063094C>T	ENSP00000359498:p.Arg58Trp						p.R58W	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			1	246	+	Acute lymphoblastic leukemia(192;6.56e-05)		58					D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.172C>T	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901792	0.33535	.	.	ENSG00000176988	ENST00000370467	T	0.46819	0.86	1.91	0.998	0.19857	.	.	.	.	.	T	0.39989	0.1099	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.18209	-1.0344	9	0.45353	T	0.12	-0.0892	5.054	0.14524	0.35:0.65:0.0:0.0	.	58	Q8N0W7	FMR1N_HUMAN	W	58	ENSP00000359498:R58W	ENSP00000359498:R58W	R	+	1	2	FMR1NB	146870786	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.401000	0.07232	0.268000	0.21939	0.552000	0.68991	CGG		0.557	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		91	324	0	0	0	1	0	91	324				
MUC16	94025	broad.mit.edu	37	19	9084855	9084855	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9084855G>T	ENST00000397910.4	-	1	7163	c.6960C>A	c.(6958-6960)acC>acA	p.T2320T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2320	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCAGCAGAGGTGATTGTCC	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6958-6960)acC>acA		mucin 16, cell surface associated							90.0	92.0	92.0					19																	9084855		2000	4152	6152	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084855G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6960C>A	19.37:g.9084855G>T							p.T2320T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	7163	-			2320			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.6960C>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	121	1	0	3.28513e-13	1	3.54196e-13	27	121				
PARP1	142	broad.mit.edu	37	1	226553752	226553752	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226553752A>G	ENST00000366794.5	-	18	2551	c.2408T>C	c.(2407-2409)gTg>gCg	p.V803A	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	803	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTGTCAACCACCTGGATAAA	0.453								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.e18-1	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							100.0	81.0	87.0					1																	226553752		2203	4300	6503	SO:0001630	splice_region_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226553752A>G	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2407-1T>C	1.37:g.226553752A>G						PARP1_ENST00000490921.1_5'UTR	p.V803_splice	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	18	2551	-	Breast(184;0.133)		803			PARP catalytic.		B1ANJ4|Q8IUZ9	Splice_Site	SNP	ENST00000366794.5	37	c.2406_splice	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319665	0.60524	.	.	ENSG00000143799	ENST00000366794	T	0.13089	2.62	5.68	5.68	0.88126	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.43923	1.385	0.80722	D	1	P	0.39022	0.655	B	0.38327	0.271	T	0.04870	-1.0921	10	0.27082	T	0.32	.	15.9357	0.79704	1.0:0.0:0.0:0.0	.	803	P09874	PARP1_HUMAN	A	803	ENSP00000355759:V803A	ENSP00000355759:V803A	V	-	2	0	PARP1	224620375	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	8.253000	0.89842	2.177000	0.69029	0.528000	0.53228	GTG		0.453	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	Missense_Mutation	48	166	0	0	0	1	0	48	166				
LGR5	8549	broad.mit.edu	37	12	71978503	71978503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71978503C>T	ENST00000266674.5	+	18	3024	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.P881S|LGR5_ENST00000536515.1_Missense_Mutation_p.P833S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGCATTTGTCCCATGTCTCTA	0.428																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2713-2715)Cca>Tca		leucine-rich repeat containing G protein-coupled receptor 5							101.0	97.0	99.0					12																	71978503		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978503C>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2713C>T	12.37:g.71978503C>T	ENSP00000266674:p.Pro905Ser					LGR5_ENST00000536515.1_Missense_Mutation_p.P833S|LGR5_ENST00000540815.2_Missense_Mutation_p.P881S	p.P905S			O75473	LGR5_HUMAN			18	3024	+			905					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2713C>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317289	0.40996	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.49	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.45216	0.1331	L	0.43923	1.385	0.45822	D	0.998691	B;B	0.33528	0.416;0.292	B;B	0.35278	0.199;0.098	T	0.28267	-1.0049	10	0.10636	T	0.68	.	15.5055	0.75735	0.0:0.9323:0.0:0.0677	.	881;905	O75473-2;O75473	.;LGR5_HUMAN	S	905;833;881	ENSP00000266674:P905S;ENSP00000443033:P833S;ENSP00000441035:P881S	ENSP00000266674:P905S	P	+	1	0	LGR5	70264770	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.815000	0.62634	2.833000	0.97629	0.585000	0.79938	CCA		0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		93	495	0	0	0	1	0	93	495				
GFI1B	8328	broad.mit.edu	37	9	135863798	135863798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135863798C>A	ENST00000339463.3	+	8	1272	c.453C>A	c.(451-453)gaC>gaA	p.D151E	GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	151	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCGCCTTGGACTTCAGCCTCC	0.657																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(451-453)gaC>gaA		growth factor independent 1B transcription repressor							65.0	50.0	55.0					9																	135863798		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863798C>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.453C>A	9.37:g.135863798C>A	ENSP00000344782:p.Asp151Glu					GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E|GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E	p.D151E			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	8	1272	+			151			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.453C>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914611	0.72983	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09163	3.15;3.01;3.01;3.15;3.15;3.01	4.97	4.97	0.65823	.	0.055638	0.64402	D	0.000001	T	0.18923	0.0454	L	0.45698	1.435	0.48341	D	0.999639	D;P	0.54772	0.968;0.907	P;P	0.58970	0.849;0.663	T	0.00500	-1.1703	10	0.52906	T	0.07	-38.8123	7.2867	0.26344	0.0:0.8095:0.0:0.1905	.	151;151	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	E	151	ENSP00000361197:D151E;ENSP00000344782:D151E;ENSP00000409546:D151E;ENSP00000446134:D151E;ENSP00000361196:D151E;ENSP00000361195:D151E	ENSP00000344782:D151E	D	+	3	2	GFI1B	134853619	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	2.819000	0.48049	2.276000	0.75962	0.563000	0.77884	GAC		0.657	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		39	197	1	0	9.73076e-26	1	1.11809e-25	39	197				
HERC5	51191	broad.mit.edu	37	4	89426989	89426989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89426989C>T	ENST00000264350.3	+	23	3188	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	HERC5_ENST00000508159.1_Missense_Mutation_p.A650V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	1012	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTTGAAGAAGCGCTTCAAGAA	0.413																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(3034-3036)gCg>gTg		HECT and RLD domain containing E3 ubiquitin protein ligase 5							56.0	56.0	56.0					4																	89426989		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89426989C>T	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.3035C>T	4.37:g.89426989C>T	ENSP00000264350:p.Ala1012Val					HERC5_ENST00000508159.1_Missense_Mutation_p.A650V	p.A1012V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	23	3188	+		Hepatocellular(203;0.114)	1012			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.3035C>T	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651724	0.67472	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.42513	0.97;0.97	4.33	4.33	0.51752	HECT (4);	0.181776	0.26808	N	0.022399	T	0.54727	0.1876	L	0.58302	1.8	0.24828	N	0.992545	D	0.61080	0.989	D	0.65323	0.934	T	0.45833	-0.9234	10	0.56958	D	0.05	.	9.5764	0.39461	0.2091:0.7909:0.0:0.0	.	1012	Q9UII4	HERC5_HUMAN	V	1012;650	ENSP00000264350:A1012V;ENSP00000424129:A650V	ENSP00000264350:A1012V	A	+	2	0	HERC5	89646012	0.978000	0.34361	0.955000	0.39395	0.921000	0.55340	2.480000	0.45206	2.240000	0.73641	0.591000	0.81541	GCG		0.413	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		5	126	0	0	0	1	0	5	126				
ATN1	1822	broad.mit.edu	37	12	7047972	7047972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7047972G>A	ENST00000356654.4	+	7	3083	c.2846G>A	c.(2845-2847)gGc>gAc	p.G949D	ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	949					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCAAGCCTGGCTTTGAGGTG	0.647																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2845-2847)gGc>gAc		atrophin 1							50.0	58.0	55.0					12																	7047972		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047972G>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2846G>A	12.37:g.7047972G>A	ENSP00000349076:p.Gly949Asp					ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	p.G949D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			7	3083	+			949					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2846G>A	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838724	0.91117	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.52295	0.67;0.67;0.67	4.91	4.91	0.64330	.	0.000000	0.34603	U	0.003829	T	0.67590	0.2909	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69499	-0.5129	10	0.66056	D	0.02	.	18.7426	0.91779	0.0:0.0:1.0:0.0	.	949	P54259	ATN1_HUMAN	D	949;949;949;534	ENSP00000349076:G949D;ENSP00000379915:G949D;ENSP00000441744:G949D	ENSP00000229279:G534D	G	+	2	0	ATN1	6918233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.235000	0.95353	2.731000	0.93534	0.650000	0.86243	GGC		0.647	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		74	436	0	0	0	1	0	74	436				
ADCK3	56997	broad.mit.edu	37	1	227174321	227174321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227174321G>A	ENST00000366779.1	+	20	4598	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	ADCK3_ENST00000433743.2_Silent_p.L283L|ADCK3_ENST00000458507.2_Silent_p.L330L|ADCK3_ENST00000366777.3_Silent_p.L609L|ADCK3_ENST00000366778.1_Silent_p.L557L|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	609					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCTACTCCCTGCACAGGAAGA	0.582																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(1825-1827)ctG>ctA		aarF domain containing kinase 3							103.0	100.0	101.0					1																	227174321		2203	4300	6503	SO:0001819	synonymous_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227174321G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1827G>A	1.37:g.227174321G>A						ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Silent_p.L557L|ADCK3_ENST00000458507.2_Silent_p.L330L|ADCK3_ENST00000366777.3_Silent_p.L609L|ADCK3_ENST00000366776.1_Silent_p.L534L|ADCK3_ENST00000366775.1_Silent_p.L454L|ADCK3_ENST00000433743.2_Silent_p.L283L	p.L609L			Q8NI60	ADCK3_HUMAN			20	4598	+			609					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	c.1827G>A	CCDS1557.1																																																																																				0.582	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		70	488	0	0	0	1	0	70	488				
DAGLB	221955	broad.mit.edu	37	7	6452623	6452623	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6452623G>A	ENST00000297056.6	-	12	1639	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	DAGLB_ENST00000425398.2_Silent_p.L361L|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000436575.1_Silent_p.L449L|DAGLB_ENST00000428902.2_Missense_Mutation_p.R350C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	490					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCCCAGGACGAGTGACACGA	0.557																																						ENST00000428902.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1048-1050)Cgt>Tgt		diacylglycerol lipase, beta							62.0	59.0	60.0					7																	6452623		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6452623G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1470C>T	7.37:g.6452623G>A						DAGLB_ENST00000436575.1_Silent_p.L449L|DAGLB_ENST00000297056.6_Silent_p.L490L|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000425398.2_Silent_p.L361L	p.R350C			Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	11	1346	-		Ovarian(82;0.232)	0					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1048C>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	4.795	0.147856	0.09134	.	.	ENSG00000164535	ENST00000428902	.	.	.	5.52	-10.3	0.00346	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.54569	-0.8274	5	0.45353	T	0.12	-12.9094	1.8816	0.03229	0.3096:0.1713:0.3495:0.1696	.	.	.	.	C	350	.	ENSP00000416046:R350C	R	-	1	0	DAGLB	6419148	0.010000	0.17322	0.002000	0.10522	0.011000	0.07611	-0.855000	0.04295	-1.904000	0.01092	-2.120000	0.00349	CGT		0.557	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		21	115	0	0	0	1	0	21	115				
ROR2	4920	broad.mit.edu	37	9	94486503	94486503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486503G>A	ENST00000375708.3	-	9	2471	c.2273C>T	c.(2272-2274)tCg>tTg	p.S758L	ROR2_ENST00000375715.1_Missense_Mutation_p.S618L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	758	Ser/Thr-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCTGCGCCGAGCTGTTGTA	0.652																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2272-2274)tCg>tTg		receptor tyrosine kinase-like orphan receptor 2							51.0	54.0	53.0					9																	94486503		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486503G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2273C>T	9.37:g.94486503G>A	ENSP00000364860:p.Ser758Leu					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.S618L	p.S758L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2471	-			758			Ser/Thr-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2273C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291602	0.59976	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.78364	-1.15;-1.17	4.65	4.65	0.58169	.	0.000000	0.36338	N	0.002656	T	0.70789	0.3264	L	0.35854	1.095	0.80722	D	1	D;D	0.58970	0.978;0.984	B;B	0.41440	0.357;0.248	T	0.75388	-0.3335	10	0.49607	T	0.09	.	17.7513	0.88435	0.0:0.0:1.0:0.0	.	758;618	Q01974;B1APY4	ROR2_HUMAN;.	L	618;758	ENSP00000364867:S618L;ENSP00000364860:S758L	ENSP00000364860:S758L	S	-	2	0	ROR2	93526324	1.000000	0.71417	0.983000	0.44433	0.653000	0.38743	9.548000	0.98103	2.415000	0.81967	0.561000	0.74099	TCG		0.652	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			66	373	0	0	0	1	0	66	373				
ABL1	25	broad.mit.edu	37	9	133759474	133759474	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133759474G>C	ENST00000318560.5	+	11	2178	c.1797G>C	c.(1795-1797)ttG>ttC	p.L599F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	599					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGACCAACTTGTTCAGCGCCT	0.597			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1795-1797)ttG>ttC		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						87.0	98.0	94.0					9																	133759474		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759474G>C	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1797G>C	9.37:g.133759474G>C	ENSP00000323315:p.Leu599Phe						p.L599F	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2178	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	599					A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1797G>C	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965761	0.02249	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.16457	2.34;2.34	5.47	1.45	0.22620	.	0.069857	0.64402	D	0.000015	T	0.07503	0.0189	N	0.17082	0.46	0.37654	D	0.922527	B;B	0.14012	0.009;0.004	B;B	0.12837	0.008;0.008	T	0.27331	-1.0077	10	0.24483	T	0.36	.	2.1658	0.03836	0.228:0.2177:0.4413:0.1131	.	599;636	P00519;Q59FK4	ABL1_HUMAN;.	F	414;618;599	ENSP00000361423:L618F;ENSP00000323315:L599F	ENSP00000323315:L599F	L	+	3	2	ABL1	132749295	0.999000	0.42202	0.992000	0.48379	0.899000	0.52679	0.652000	0.24888	0.289000	0.22422	-0.258000	0.10820	TTG		0.597	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		67	760	0	0	0	1	0	67	760				
TRPM2	7226	broad.mit.edu	37	21	45789167	45789167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45789167A>G	ENST00000397928.1	+	5	1157	c.712A>G	c.(712-714)Acc>Gcc	p.T238A	TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A|TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A|TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	238					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGAGCTCATCACCATCGGAGT	0.667																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(712-714)Acc>Gcc		transient receptor potential cation channel, subfamily M, member 2							55.0	47.0	50.0					21																	45789167		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45789167A>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.712A>G	21.37:g.45789167A>G	ENSP00000381023:p.Thr238Ala					TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A|TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A	p.T238A	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			5	1157	+			238					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.712A>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	A	4.867	0.161075	0.09287	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	3.51	3.51	0.40186	.	0.146541	0.46758	U	0.000277	T	0.01320	0.0043	N	0.05608	-0.01	0.45806	D	0.998687	P;P	0.40360	0.714;0.512	B;B	0.31946	0.138;0.113	T	0.53760	-0.8393	10	0.02654	T	1	-38.6306	12.4804	0.55839	1.0:0.0:0.0:0.0	.	238;238	E9PGK7;O94759	.;TRPM2_HUMAN	A	238	ENSP00000300482:T238A;ENSP00000381023:T238A;ENSP00000300481:T238A;ENSP00000381026:T238A	ENSP00000300481:T238A	T	+	1	0	TRPM2	44613595	1.000000	0.71417	0.975000	0.42487	0.894000	0.52154	2.993000	0.49425	1.588000	0.49971	0.383000	0.25322	ACC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		28	199	0	0	0	1	0	28	199				
C2orf40	84417	broad.mit.edu	37	2	106690369	106690369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106690369C>T	ENST00000238044.3	+	3	264	c.155C>T	c.(154-156)gCc>gTc	p.A52V	C2orf40_ENST00000409944.1_Missense_Mutation_p.A16V|C2orf40_ENST00000489174.1_3'UTR	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52			A -> T (in dbSNP:rs10187689).		cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						ACTAAAGTGGCCGTTGATGAG	0.522																																						ENST00000409944.1																			0				lung(7)|urinary_tract(1)	8						c.(46-48)gCc>gTc		chromosome 2 open reading frame 40							128.0	142.0	137.0					2																	106690369		2203	4300	6503	SO:0001583	missense	84417					extracellular region|transport vesicle		g.chr2:106690369C>T	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.155C>T	2.37:g.106690369C>T	ENSP00000238044:p.Ala52Val					C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Missense_Mutation_p.A52V	p.A16V			Q9H1Z8	AUGN_HUMAN			4	278	+			52					D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	37	c.47C>T	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591305	0.46214	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.54479	0.57;0.57;0.57	5.62	5.62	0.85841	.	0.116585	0.64402	D	0.000016	T	0.62036	0.2395	L	0.51422	1.61	0.40866	D	0.983874	P	0.49559	0.925	P	0.52159	0.691	T	0.63042	-0.6725	10	0.52906	T	0.07	-18.6853	19.6614	0.95875	0.0:1.0:0.0:0.0	.	52	Q9H1Z8	AUGN_HUMAN	V	16;52;54	ENSP00000386421:A16V;ENSP00000238044:A52V;ENSP00000388664:A54V	ENSP00000238044:A52V	A	+	2	0	C2orf40	106056801	0.991000	0.36638	0.932000	0.37286	0.105000	0.19272	3.048000	0.49862	2.633000	0.89246	0.655000	0.94253	GCC		0.522	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		142	839	0	0	0	1	0	142	839				
MACROD2	140733	broad.mit.edu	37	20	14474150	14474150	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14474150A>T	ENST00000310348.4	+	4	297	c.297A>T	c.(295-297)ggA>ggT	p.G99G	MACROD2_ENST00000217246.4_Silent_p.G99G			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	99	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTGGAGGAGGAGGTGGTAAGT	0.279																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(295-297)ggA>ggT		MACRO domain containing 2							123.0	115.0	117.0					20																	14474150		1811	4066	5877	SO:0001819	synonymous_variant	140733							g.chr20:14474150A>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.297A>T	20.37:g.14474150A>T						MACROD2_ENST00000310348.4_Silent_p.G99G	p.G99G	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			4	692	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	99			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	c.297A>T	CCDS13120.2																																																																																				0.279	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		29	322	0	0	0	1	0	29	322				
HOXA1	3198	broad.mit.edu	37	7	27135377	27135377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27135377C>T	ENST00000343060.4	-	1	216	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.R52H|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	52					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTAGGAAGCGGTCGTCGCC	0.662											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(154-156)cGc>cAc		homeobox A1							38.0	43.0	41.0					7																	27135377		2203	4299	6502	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135377C>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.155G>A	7.37:g.27135377C>T	ENSP00000343246:p.Arg52His		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_Missense_Mutation_p.R52H|HOTAIRM1_ENST00000495032.1_RNA	p.R52H	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	216	-			52					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.155G>A	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272594	0.40194	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.37915	1.17;1.17	5.15	3.34	0.38264	.	0.338386	0.31268	N	0.007949	T	0.51075	0.1653	L	0.56340	1.77	0.58432	D	0.999993	B;D	0.89917	0.001;1.0	B;D	0.87578	0.001;0.998	T	0.41448	-0.9508	10	0.42905	T	0.14	.	10.3151	0.43732	0.0:0.8353:0.0:0.1647	.	52;52	P49639;E7ERT8	HXA1_HUMAN;.	H	52	ENSP00000343246:R52H;ENSP00000347851:R52H	ENSP00000343246:R52H	R	-	2	0	HOXA1	27101902	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	2.198000	0.42705	0.562000	0.29204	0.297000	0.19635	CGC		0.662	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			79	435	0	0	0	1	0	79	435				
MYO15A	51168	broad.mit.edu	37	17	18054484	18054484	+	Missense_Mutation	SNP	G	G	A	rs201619309	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054484G>A	ENST00000205890.5	+	39	7872	c.7534G>A	c.(7534-7536)Gtg>Atg	p.V2512M	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2512	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCCAAACCCGTGCTCCTGCG	0.647													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16594	0.0		0.0	False		,,,				2504	0.0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7534-7536)Gtg>Atg		myosin XVA		G	MET/VAL	0,4012		0,0,2006	99.0	111.0	107.0		7534	5.2	1.0	17		107	2,8326		0,2,4162	yes	missense	MYO15A	NM_016239.3	21	0,2,6168	AA,AG,GG		0.024,0.0,0.0162	probably-damaging	2512/3531	18054484	2,12338	2006	4164	6170	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18054484G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7534G>A	17.37:g.18054484G>A	ENSP00000205890:p.Val2512Met						p.V2512M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			39	7872	+	all_neural(463;0.228)		2512			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7534G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685918	0.29962	0.0	2.4E-4	ENSG00000091536	ENST00000205890	D	0.88277	-2.36	5.25	5.25	0.73442	.	.	.	.	.	D	0.90645	0.7066	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.90169	0.4234	9	0.54805	T	0.06	.	10.1994	0.43073	0.0917:0.0:0.9083:0.0	.	2512	Q9UKN7	MYO15_HUMAN	M	2512	ENSP00000205890:V2512M	ENSP00000205890:V2512M	V	+	1	0	MYO15A	17995209	1.000000	0.71417	0.958000	0.39756	0.201000	0.24016	4.002000	0.57053	2.608000	0.88229	0.655000	0.94253	GTG		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		50	1059	0	0	0	1	0	50	1059				
SNAP91	9892	broad.mit.edu	37	6	84311055	84311055	+	Missense_Mutation	SNP	G	G	A	rs186370272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84311055G>A	ENST00000439399.2	-	16	1575	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000428679.2_Missense_Mutation_p.A420V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	420	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGAAGCTGAGGCAGTTGCAAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		17567	0.0		0.001	False		,,,				2504	0.0					ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1258-1260)gCc>gTc		synaptosomal-associated protein, 91kDa							103.0	103.0	103.0					6																	84311055		1959	4148	6107	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84311055G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1259C>T	6.37:g.84311055G>A	ENSP00000400459:p.Ala420Val					SNAP91_ENST00000521485.1_Missense_Mutation_p.A420V|SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000439399.2_Missense_Mutation_p.A420V|SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron	p.A420V			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	16	1852	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	420			Ala-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1259C>T	CCDS47455.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.37	2.516264	0.44763	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	T;T;T;T;T;T;T	0.16324	2.38;2.38;2.38;2.38;2.35;2.37;2.38	5.46	5.46	0.80206	.	0.531595	0.22220	N	0.062961	T	0.06462	0.0166	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34103	0.437;0.437;0.025	B;B;B	0.24541	0.037;0.054;0.021	T	0.21965	-1.0230	10	0.18276	T	0.48	-4.3839	17.8828	0.88845	0.0:0.0:1.0:0.0	.	418;420;418	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	V	420;420;420;420;420;418;420;146	ENSP00000429776:A420V;ENSP00000358708:A420V;ENSP00000400459:A420V;ENSP00000195649:A420V;ENSP00000412492:A420V;ENSP00000428511:A418V;ENSP00000428215:A420V	ENSP00000195649:A420V	A	-	2	0	SNAP91	84367774	1.000000	0.71417	0.998000	0.56505	0.317000	0.28152	8.735000	0.91549	2.570000	0.86706	0.563000	0.77884	GCC		0.463	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			30	120	0	0	0	1	0	30	120				
LYNX1	66004	broad.mit.edu	37	8	143857418	143857418	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143857418G>T	ENST00000335822.5	-	0	585				LYNX1_ENST00000522906.1_Intron|LYNX1_ENST00000345173.6_De_novo_Start_OutOfFrame|LYNX1_ENST00000398906.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000523332.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000395192.2_De_novo_Start_OutOfFrame	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1							anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGTCAACAGCAGCTAGCCC	0.657																																						ENST00000398906.1																			0				endometrium(1)|lung(2)|skin(1)	4								Ly6/neurotoxin 1							63.0	44.0	51.0					8																	143857418		2203	4300	6503			66004					extracellular region		g.chr8:143857418G>T	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.-43C>A	8.37:g.143857418G>T						LYNX1_ENST00000523332.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000395192.2_De_novo_Start_OutOfFrame|LYNX1_ENST00000345173.6_De_novo_Start_OutOfFrame|LYNX1_ENST00000335822.5_De_novo_Start_OutOfFrame|LYNX1_ENST00000522906.1_Intron		NM_177477.2	NP_803430.1	Q86SR0	SLUR2_HUMAN			0	342	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)							D3DWI7|G3XAC2|Q86SR0	Translation_Start_Site	SNP	ENST00000335822.5	37		CCDS34951.1																																																																																				0.657	LYNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379786.3	NM_177476		17	107	1	0	3.41278e-10	1	3.61262e-10	17	107				
KMT2A	4297	broad.mit.edu	37	11	118373499	118373499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118373499G>A	ENST00000389506.5	+	27	6883	c.6883G>A	c.(6883-6885)Gac>Aac	p.D2295N	KMT2A_ENST00000534358.1_Missense_Mutation_p.D2298N|KMT2A_ENST00000354520.4_Missense_Mutation_p.D2257N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2295					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGTGCTTCAGACTTGGTGTC	0.448																																						ENST00000534358.1																			0											c.(6892-6894)Gac>Aac		lysine (K)-specific methyltransferase 2A							66.0	64.0	65.0					11																	118373499		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118373499G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6883G>A	11.37:g.118373499G>A	ENSP00000374157:p.Asp2295Asn					KMT2A_ENST00000354520.4_Missense_Mutation_p.D2257N|KMT2A_ENST00000389506.5_Missense_Mutation_p.D2295N	p.D2298N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	6915	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.6892G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487517	0.44249	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82711	-1.64;-1.64;-1.62	5.85	5.85	0.93711	.	0.271361	0.39083	N	0.001467	T	0.75874	0.3909	N	0.19112	0.55	0.46279	D	0.998968	P;P	0.49090	0.919;0.919	B;B	0.40901	0.343;0.343	T	0.79574	-0.1747	10	0.62326	D	0.03	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	2298;2295	E9PQG7;Q03164	.;MLL1_HUMAN	N	2298;2295;2257;1205	ENSP00000436786:D2298N;ENSP00000374157:D2295N;ENSP00000346516:D2257N	ENSP00000346516:D2257N	D	+	1	0	MLL	117878709	1.000000	0.71417	0.994000	0.49952	0.424000	0.31475	5.068000	0.64364	2.767000	0.95098	0.655000	0.94253	GAC		0.448	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		70	312	0	0	0	1	0	70	312				
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T	rs535254738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(1021-1023)Gtc>Atc		ring finger and WD repeat domain 3							222.0	193.0	203.0					16																	74678318		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74678318C>T	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1021G>A	16.37:g.74678318C>T	ENSP00000354361:p.Val341Ile					RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			6	1118	-			341					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.1021G>A	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398256	0.62177	.	.	ENSG00000168411	ENST00000361070	T	0.18338	2.22	5.93	5.93	0.95920	.	0.214399	0.39759	N	0.001263	T	0.24431	0.0592	M	0.64260	1.97	0.50039	D	0.999847	P	0.51791	0.948	B	0.41813	0.367	T	0.01111	-1.1448	10	0.39692	T	0.17	-17.5372	20.328	0.98708	0.0:1.0:0.0:0.0	.	341	Q6PCD5	RFWD3_HUMAN	I	341	ENSP00000354361:V341I	ENSP00000354361:V341I	V	-	1	0	RFWD3	73235819	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	2.167000	0.42415	2.802000	0.96397	0.561000	0.74099	GTC		0.458	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		182	578	0	0	0	1	0	182	578				
SNHG14	104472715	broad.mit.edu	37	15	25453297	25453297	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25453297T>G	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTCAATAGGATTACGCTGAGG	0.527																																						ENST00000424208.1																			0																				346.0	358.0	354.0					15																	25453297		876	1991	2867			0							g.chr15:25453297T>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25453297T>G						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA		NR_003305.1						0	2384	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.527	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			26	1796	0	0	0	1	0	26	1796				
NTN4	59277	broad.mit.edu	37	12	96131853	96131853	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96131853G>T	ENST00000343702.4	-	3	1103	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	NTN4_ENST00000344911.4_Missense_Mutation_p.L182M|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.L219M|NTN4_ENST00000538383.1_Missense_Mutation_p.L182M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	219	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTGATCTTCAGCTGCTCCTGA	0.448																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(655-657)Ctg>Atg		netrin 4							175.0	154.0	161.0					12																	96131853		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96131853G>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.655C>A	12.37:g.96131853G>T	ENSP00000340998:p.Leu219Met					NTN4_ENST00000538383.1_Missense_Mutation_p.L182M|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.L219M|NTN4_ENST00000344911.4_Missense_Mutation_p.L182M	p.L219M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			3	1103	-			219			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.655C>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409995	0.62399	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.51	1.62	0.23740	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000004	D	0.85588	0.5731	M	0.79123	2.44	0.46725	D	0.999179	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.961	D	0.83708	0.0186	10	0.46703	T	0.11	.	10.7464	0.46183	0.3041:0.0:0.6959:0.0	.	219;219	Q9HB63-2;Q9HB63	.;NET4_HUMAN	M	219;182;182;219	ENSP00000340998:L219M;ENSP00000339436:L182M;ENSP00000444432:L182M;ENSP00000447292:L219M	ENSP00000340998:L219M	L	-	1	2	NTN4	94655984	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.401000	0.44513	0.298000	0.22638	-0.228000	0.12330	CTG		0.448	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		26	593	1	0	1.1804e-14	1	1.28451e-14	26	593				
NBEAL2	23218	broad.mit.edu	37	3	47047546	47047546	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47047546C>A	ENST00000450053.3	+	43	7091	c.6912C>A	c.(6910-6912)acC>acA	p.T2304T	NBEAL2_ENST00000292309.5_Silent_p.T2120T|NBEAL2_ENST00000383740.2_Silent_p.T583T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2304	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATTACTGCACCTATGAGGGTG	0.612																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(6910-6912)acC>acA		neurobeachin-like 2							56.0	67.0	63.0					3																	47047546		2112	4230	6342	SO:0001819	synonymous_variant	23218						binding	g.chr3:47047546C>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6912C>A	3.37:g.47047546C>A						NBEAL2_ENST00000383740.2_Silent_p.T583T|NBEAL2_ENST00000292309.5_Silent_p.T2120T	p.T2304T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	43	7091	+		Acute lymphoblastic leukemia(5;0.0534)	2304			BEACH.		O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.6912C>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.020|8.020	0.759396|0.759396	0.15846|0.15846	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.78|4.78	1.31|1.31	0.21738|0.21738	.|.	.|.	.|.	.|.	.|.	T|T	0.45256|0.45256	0.1333|0.1333	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22277|0.22277	-1.0221|-1.0221	4|4	.|.	.|.	.|.	.|.	3.3935|3.3935	0.07298|0.07298	0.3228:0.4439:0.0:0.2333|0.3228:0.4439:0.0:0.2333	.|.	.|.	.|.	.|.	I|H	673|1592	.|.	.|.	L|P	+|+	1|2	2|0	NBEAL2|NBEAL2	47022550|47022550	0.003000|0.003000	0.15002|0.15002	0.997000|0.997000	0.53966|0.53966	0.971000|0.971000	0.66376|0.66376	-1.339000|-1.339000	0.02652|0.02652	0.049000|0.049000	0.15920|0.15920	0.561000|0.561000	0.74099|0.74099	CTA|CCT		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		79	333	1	0	4.00405e-42	1	4.87196e-42	79	333				
ITSN2	50618	broad.mit.edu	37	2	24533163	24533163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24533163C>A	ENST00000355123.4	-	7	1086	c.643G>T	c.(643-645)Gga>Tga	p.G215*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	215					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACTAGATCCTAAATCAATC	0.343																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(643-645)Gga>Tga		intersectin 2							233.0	249.0	244.0					2																	24533163		2203	4300	6503	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533163C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.643G>T	2.37:g.24533163C>A	ENSP00000347244:p.Gly215*					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*	p.G215*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			7	1086	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		215					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.643G>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	35	5.438748	0.96168	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	4.97	4.09	0.47781	.	0.000000	0.32372	U	0.006187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.4601	0.61223	0.1566:0.8434:0.0:0.0	.	.	.	.	X	215;215;215;214;215;215	.	ENSP00000347244:G215X	G	-	1	0	ITSN2	24386667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.378000	0.66190	1.207000	0.43291	0.591000	0.81541	GGA		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		221	1289	1	0	4.94232e-47	1	6.07969e-47	221	1289				
NELL1	4745	broad.mit.edu	37	11	21581775	21581775	+	Silent	SNP	C	C	T	rs111554917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:21581775C>T	ENST00000357134.5	+	17	1979	c.1827C>T	c.(1825-1827)aaC>aaT	p.N609N	NELL1_ENST00000325319.5_Silent_p.N552N|NELL1_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000298925.5_Silent_p.N637N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	609	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTGTTGGAACGATTCTGCCT	0.507																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1909-1911)aaC>aaT		NEL-like 1 (chicken)		C	,	0,4406		0,0,2203	156.0	139.0	145.0		1827,1686	-0.5	1.0	11	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NELL1	NM_006157.3,NM_201551.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	609/811,562/764	21581775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21581775C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1827C>T	11.37:g.21581775C>T						NELL1_ENST00000529218.1_Intron|NELL1_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000325319.5_Silent_p.N552N|NELL1_ENST00000357134.5_Silent_p.N609N	p.N637N			Q92832	NELL1_HUMAN			18	2064	+			609			VWFC 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1911C>T	CCDS7855.1																																																																																				0.507	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		105	509	0	0	0	1	0	105	509				
CTSO	1519	broad.mit.edu	37	4	156849530	156849530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156849530C>T	ENST00000433477.3	-	7	958	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	304					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAACCATCTACTCCCCAAGAA	0.343																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(889-891)Gta>Ata		cathepsin O							108.0	101.0	103.0					4																	156849530		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156849530C>T	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.889G>A	4.37:g.156849530C>T	ENSP00000414904:p.Val297Ile						p.V297I	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	7	958	-	all_hematologic(180;0.24)	Renal(120;0.0458)	297					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.889G>A	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	3.991	-0.004456	0.07773	.	.	ENSG00000256043	ENST00000433477	T	0.28895	1.59	5.32	1.38	0.22167	Peptidase C1A, papain C-terminal (2);	0.587842	0.18013	N	0.154497	T	0.12475	0.0303	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.22556	-1.0213	10	0.33940	T	0.23	.	5.6985	0.17869	0.0:0.4893:0.1324:0.3784	.	297	P43234	CATO_HUMAN	I	297	ENSP00000414904:V297I	ENSP00000281527:V297I	V	-	1	0	CTSO	157068980	0.017000	0.18338	0.379000	0.26080	0.938000	0.57974	0.020000	0.13466	-0.053000	0.13289	-0.142000	0.14014	GTA		0.343	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		62	299	0	0	0	1	0	62	299				
NALCN	259232	broad.mit.edu	37	13	101735213	101735213	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101735213T>C	ENST00000251127.6	-	33	3793	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1238					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGGTACGGTCACCGGGTCC	0.522																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3712-3714)Acc>Gcc		sodium leak channel, non-selective							126.0	113.0	117.0					13																	101735213		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735213T>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3712A>G	13.37:g.101735213T>C	ENSP00000251127:p.Thr1238Ala						p.T1238A	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			33	3793	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1238					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3712A>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625989	0.46840	.	.	ENSG00000102452	ENST00000251127	D	0.97430	-4.38	5.64	5.64	0.86602	.	0.048760	0.85682	D	0.000000	D	0.95818	0.8639	L	0.57536	1.79	0.80722	D	1	B	0.22003	0.063	B	0.27715	0.082	D	0.93815	0.7113	10	0.41790	T	0.15	.	15.8512	0.78934	0.0:0.0:0.0:1.0	.	1238	Q8IZF0	NALCN_HUMAN	A	1238	ENSP00000251127:T1238A	ENSP00000251127:T1238A	T	-	1	0	NALCN	100533214	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.613000	0.82986	2.137000	0.66172	0.528000	0.53228	ACC		0.522	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		16	296	0	0	0	1	0	16	296				
DGAT1	8694	broad.mit.edu	37	8	145542724	145542724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145542724C>T	ENST00000332324.4	-	3	569	c.296G>A	c.(295-297)aGc>aAc	p.S99N	DGAT1_ENST00000531896.1_Missense_Mutation_p.S99N|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	99					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGGGCATTGCTCAAGATCTG	0.632																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(295-297)aGc>aAc		diacylglycerol O-acyltransferase 1							53.0	40.0	45.0					8																	145542724		2163	4255	6418	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145542724C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.296G>A	8.37:g.145542724C>T	ENSP00000332258:p.Ser99Asn					DGAT1_ENST00000531896.1_Missense_Mutation_p.S99N	p.S99N	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	569	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		99					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.296G>A	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.521504	0.85600	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T;T	0.30981	1.51;1.51	5.32	4.38	0.52667	.	0.097011	0.64402	D	0.000002	T	0.55000	0.1893	M	0.81497	2.545	0.42564	D	0.993158	D;D	0.89917	1.0;0.998	D;D	0.76071	0.987;0.931	T	0.58025	-0.7709	10	0.49607	T	0.09	-18.8333	12.4498	0.55671	0.1683:0.8317:0.0:0.0	.	99;99	E9PS80;O75907	.;DGAT1_HUMAN	N	99	ENSP00000332258:S99N;ENSP00000432795:S99N	ENSP00000332258:S99N	S	-	2	0	DGAT1	145513532	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.314000	0.51943	2.504000	0.84457	0.556000	0.70494	AGC		0.632	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		3	18	0	0	0	1	0	3	18				
MMP25	64386	broad.mit.edu	37	16	3100403	3100403	+	Missense_Mutation	SNP	G	G	A	rs538501940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3100403G>A	ENST00000336577.4	+	4	754	c.517G>A	c.(517-519)Gac>Aac	p.D173N	RP11-473M20.7_ENST00000573130.1_RNA|MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	184					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CATCCTCATCGACTTTGCCCG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18028	0.001		0.0	False		,,,				2504	0.0				NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(517-519)Gac>Aac		matrix metallopeptidase 25							52.0	48.0	49.0					16																	3100403		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100403G>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.517G>A	16.37:g.3100403G>A	ENSP00000337816:p.Asp173Asn					MMP25_ENST00000570755.1_3'UTR	p.D173N	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			4	754	+			173					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.517G>A	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891265	0.17613	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.20463	2.07	4.96	2.83	0.33086	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.123299	0.36034	N	0.002821	T	0.21186	0.0510	L	0.54323	1.7	0.22127	N	0.999349	P;P	0.44690	0.806;0.841	B;P	0.44897	0.232;0.463	T	0.07790	-1.0754	10	0.27785	T	0.31	.	7.8239	0.29303	0.0949:0.2212:0.6838:0.0	.	97;173	O43923;Q9NPA2	.;MMP25_HUMAN	N	173;100	ENSP00000337816:D173N	ENSP00000324953:D100N	D	+	1	0	MMP25	3040404	0.000000	0.05858	0.990000	0.47175	0.115000	0.19883	0.369000	0.20416	0.380000	0.24823	0.655000	0.94253	GAC		0.642	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		14	330	0	0	0	1	0	14	330				
ADAM22	53616	broad.mit.edu	37	7	87780610	87780610	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87780610A>G	ENST00000265727.7	+	20	1735	c.1656A>G	c.(1654-1656)agA>agG	p.R552R	ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000398204.4_Silent_p.R552R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	552	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGAGATAGACAATGCAAAT	0.403																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(1654-1656)agA>agG		ADAM metallopeptidase domain 22							127.0	120.0	122.0					7																	87780610		1896	4104	6000	SO:0001819	synonymous_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87780610A>G	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1656A>G	7.37:g.87780610A>G						ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000265727.7_Silent_p.R552R	p.R552R	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	1979	+	Esophageal squamous(14;0.00202)		552			Cys-rich.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	c.1656A>G	CCDS47637.1																																																																																				0.403	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		62	282	0	0	0	1	0	62	282				
MAPT	4137	broad.mit.edu	37	17	44051802	44051802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44051802C>T	ENST00000571987.1	+	3	272	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000344290.5_Missense_Mutation_p.A91V|MAPT_ENST00000574436.1_Missense_Mutation_p.A91V			P10636	TAU_HUMAN	microtubule-associated protein tau	91					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CAGGCTGCCGCGCAGCCCCAC	0.637																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(271-273)gCg>gTg		microtubule-associated protein tau							27.0	24.0	25.0					17																	44051802		2201	4299	6500	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44051802C>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.272C>T	17.37:g.44051802C>T	ENSP00000458742:p.Ala91Val					MAPT_ENST00000574436.1_Missense_Mutation_p.A91V|MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000571987.1_Missense_Mutation_p.A91V|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V	p.A91V	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			4	594	+		Melanoma(429;0.216)	91					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.272C>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574214	0.86542	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000535772;ENST00000415613	T;T;T;T;T	0.28255	2.56;2.56;1.62;1.69;2.56	5.39	5.39	0.77823	.	0.000000	0.39407	N	0.001378	T	0.47563	0.1452	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.944;0.955	T	0.19031	-1.0318	10	0.27082	T	0.32	-15.5257	14.651	0.68797	0.0:1.0:0.0:0.0	.	91;91;91	P10636-9;P10636-8;P10636	.;.;TAU_HUMAN	V	91	ENSP00000340820:A91V;ENSP00000262410:A91V;ENSP00000303214:A91V;ENSP00000443028:A91V;ENSP00000410838:A91V	ENSP00000262410:A91V	A	+	2	0	MAPT	41407638	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	3.944000	0.56629	2.556000	0.86216	0.561000	0.74099	GCG		0.637	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		13	75	0	0	0	1	0	13	75				
ZNF208	7757	broad.mit.edu	37	19	22156630	22156630	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22156630A>G	ENST00000397126.4	-	4	1354	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCTTTGCCACATTCTTCAC	0.383																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1204-1206)tgT>tgC		zinc finger protein 208							43.0	48.0	47.0					19																	22156630		1991	4208	6199	SO:0001819	synonymous_variant	7757							g.chr19:22156630A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1206T>C	19.37:g.22156630A>G						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.C402C	NM_007153.3	NP_009084.2					4	1354	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1206T>C	CCDS54240.1																																																																																				0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		39	280	0	0	0	1	0	39	280				
CHD6	84181	broad.mit.edu	37	20	40052176	40052176	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40052176G>T	ENST00000373233.3	-	30	4688	c.4511C>A	c.(4510-4512)gCc>gAc	p.A1504D		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1504					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCGGCACATGGCCACAAAACT	0.418																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(4510-4512)gCc>gAc		chromodomain helicase DNA binding protein 6							232.0	255.0	247.0					20																	40052176		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40052176G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4511C>A	20.37:g.40052176G>T	ENSP00000362330:p.Ala1504Asp						p.A1504D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			30	4688	-		Myeloproliferative disorder(115;0.00425)	1504					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4511C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380218	0.82682	.	.	ENSG00000124177	ENST00000373233	D	0.89617	-2.54	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.194968	0.36482	N	0.002566	D	0.92773	0.7702	M	0.82323	2.585	0.80722	D	1	P	0.39883	0.693	P	0.45794	0.493	D	0.92712	0.6184	10	0.87932	D	0	-8.0985	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1504	Q8TD26	CHD6_HUMAN	D	1504	ENSP00000362330:A1504D	ENSP00000362330:A1504D	A	-	2	0	CHD6	39485590	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.654000	0.83653	2.884000	0.98904	0.655000	0.94253	GCC		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			313	1332	1	0	5.90345e-71	1	7.50243e-71	313	1332				
RNF144A	9781	broad.mit.edu	37	2	7170280	7170280	+	Silent	SNP	C	C	T	rs573785745		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7170280C>T	ENST00000320892.6	+	8	1123	c.681C>T	c.(679-681)taC>taT	p.Y227Y	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	227					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGATACACTACGATAAGGGAC	0.542																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(679-681)taC>taT		ring finger protein 144A							143.0	116.0	125.0					2																	7170280		2203	4300	6503	SO:0001819	synonymous_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7170280C>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.681C>T	2.37:g.7170280C>T						RNF144A_ENST00000467276.1_3'UTR	p.Y227Y	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	8	1123	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	227					D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	c.681C>T	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	c	7.981	0.751179	0.15778	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.09	-7.49	0.01355	.	.	.	.	.	T	0.62600	0.2441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67998	-0.5525	4	.	.	.	.	15.9038	0.79403	0.0:0.5952:0.0:0.4048	.	.	.	.	M	223	.	.	T	+	2	0	RNF144A	7087731	0.009000	0.17119	0.845000	0.33349	0.840000	0.47671	-1.079000	0.03410	-1.083000	0.03097	-0.619000	0.04042	ACG		0.542	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		30	484	0	0	0	1	0	30	484				
COL4A6	1288	broad.mit.edu	37	X	107418934	107418934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107418934G>A	ENST00000372216.4	-	29	2883	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L|COL4A6_ENST00000334504.7_Missense_Mutation_p.S927L|COL4A6_ENST00000394872.2_Missense_Mutation_p.S928L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	928	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTTCCAGTTGATCCTGGAAT	0.468									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2782-2784)tCa>tTa		collagen, type IV, alpha 6							114.0	97.0	103.0					X																	107418934		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107418934G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2783C>T	X.37:g.107418934G>A	ENSP00000361290:p.Ser928Leu					COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L|COL4A6_ENST00000334504.7_Missense_Mutation_p.S927L|COL4A6_ENST00000372216.4_Missense_Mutation_p.S928L	p.S928L			Q14031	CO4A6_HUMAN			29	3014	-			928			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.2783C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	7.815	0.716629	0.15306	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.21	2.29	0.28610	.	0.484707	0.15540	N	0.257006	T	0.79161	0.4399	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.27351	0.069;0.176;0.085;0.069	B;B;B;B	0.31547	0.029;0.132;0.102;0.062	T	0.66156	-0.5994	10	0.11182	T	0.66	.	5.6142	0.17422	0.2836:0.1396:0.5768:0.0	.	927;927;928;927	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	L	928;927;928;927;927;927	ENSP00000361290:S928L;ENSP00000334733:S927L;ENSP00000378340:S928L;ENSP00000443707:S927L;ENSP00000445236:S927L	ENSP00000334733:S927L	S	-	2	0	COL4A6	107305590	0.028000	0.19301	0.002000	0.10522	0.005000	0.04900	1.662000	0.37418	0.195000	0.20347	0.513000	0.50165	TCA		0.468	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			59	213	0	0	0	1	0	59	213				
TERF2IP	54386	broad.mit.edu	37	16	75690139	75690139	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75690139T>C	ENST00000300086.4	+	3	927	c.830T>C	c.(829-831)aTa>aCa	p.I277T		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	277	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GAAATACATATAACTATGTGT	0.413																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(829-831)aTa>aCa		telomeric repeat binding factor 2, interacting protein							91.0	94.0	93.0					16																	75690139		2198	4300	6498	SO:0001583	missense	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690139T>C	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.830T>C	16.37:g.75690139T>C	ENSP00000300086:p.Ile277Thr						p.I277T	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	927	+			277			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	37	c.830T>C	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519194	0.44866	.	.	ENSG00000166848	ENST00000300086	T	0.50548	0.74	5.02	5.02	0.67125	.	0.456793	0.24128	N	0.041294	T	0.27832	0.0685	N	0.19112	0.55	0.26115	N	0.980632	B	0.13594	0.008	B	0.09377	0.004	T	0.12993	-1.0526	10	0.14656	T	0.56	-9.2054	7.6006	0.28073	0.0:0.0938:0.0:0.9062	.	277	Q9NYB0	TE2IP_HUMAN	T	277	ENSP00000300086:I277T	ENSP00000300086:I277T	I	+	2	0	TERF2IP	74247640	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.165000	0.42396	2.228000	0.72767	0.482000	0.46254	ATA		0.413	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		85	420	0	0	0	1	0	85	420				
CARM1	10498	broad.mit.edu	37	19	11019791	11019791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11019791C>A	ENST00000327064.4	+	4	656	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	156	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTATGGCTACCTGTCCCAGCA	0.597																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(466-468)Ctg>Atg		coactivator-associated arginine methyltransferase 1							106.0	75.0	86.0					19																	11019791		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11019791C>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.466C>A	19.37:g.11019791C>A	ENSP00000325690:p.Leu156Met					CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	p.L156M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			4	656	+			156					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.466C>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435501	0.83885	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.23950	1.88;1.88	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.50667	0.1629	M	0.80183	2.485	0.80722	D	1	D	0.56968	0.978	D	0.67725	0.953	T	0.52786	-0.8529	10	0.59425	D	0.04	-2.8926	12.3792	0.55297	0.0:0.9184:0.0:0.0816	.	156	Q86X55	CARM1_HUMAN	M	156	ENSP00000325690:L156M;ENSP00000340934:L156M	ENSP00000325690:L156M	L	+	1	2	CARM1	10880791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.558000	0.60789	2.593000	0.87608	0.655000	0.94253	CTG		0.597	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		52	249	1	0	4.25531e-23	1	4.83061e-23	52	249				
GSX2	170825	broad.mit.edu	37	4	54966712	54966712	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54966712G>A	ENST00000326902.2	+	1	515	c.201G>A	c.(199-201)tcG>tcA	p.S67S	GSX2_ENST00000503800.1_Silent_p.S67S|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	67					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCGTCACTTCGCACCTGCACT	0.751																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(199-201)tcG>tcA		GS homeobox 2							14.0	15.0	15.0					4																	54966712		2201	4295	6496	SO:0001819	synonymous_variant	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54966712G>A		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.201G>A	4.37:g.54966712G>A						FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Silent_p.S67S	p.S67S	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		1	515	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		67						Silent	SNP	ENST00000326902.2	37	c.201G>A	CCDS3494.1																																																																																				0.751	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		18	71	0	0	0	1	0	18	71				
SCN5A	6331	broad.mit.edu	37	3	38639378	38639378	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38639378G>A	ENST00000333535.4	-	14	2253	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	SCN5A_ENST00000413689.1_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L|SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	702					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GACATCCACAGCGGGCAGCAC	0.557																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2104-2106)Ctg>Ttg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						131.0	135.0	134.0					3																	38639378		2147	4255	6402	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639378G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2104C>T	3.37:g.38639378G>A						SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000333535.4_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L	p.L702L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2297	-	Medulloblastoma(35;0.163)		702					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.2104C>T	CCDS46796.1																																																																																				0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		12	469	0	0	0	1	0	12	469				
PPP1R12C	54776	broad.mit.edu	37	19	55623837	55623837	+	Missense_Mutation	SNP	C	C	T	rs143271686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55623837C>T	ENST00000263433.3	-	3	584	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GAGCCCACCTCGGCGGGCGAT	0.697													C|||	2	0.000399361	0.0	0.0	5008	,	,		13116	0.001		0.001	False		,,,				2504	0.0					ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(568-570)cGa>cAa		protein phosphatase 1, regulatory subunit 12C		C	GLN/ARG	1,4401		0,1,2200	18.0	24.0	22.0		569	4.7	1.0	19	dbSNP_134	22	13,8583		0,13,4285	no	missense	PPP1R12C	NM_017607.2	43	0,14,6485	TT,TC,CC		0.1512,0.0227,0.1077	benign	190/783	55623837	14,12984	2201	4298	6499	SO:0001583	missense	54776					cytoplasm		g.chr19:55623837C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.569G>A	19.37:g.55623837C>T	ENSP00000263433:p.Arg190Gln					PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q	p.R190Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	3	584	-			190						Missense_Mutation	SNP	ENST00000263433.3	37	c.569G>A	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102327	0.08731	2.27E-4	0.001512	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.52057	0.68;0.68;0.68	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.161907	0.42821	D	0.000641	T	0.20659	0.0497	N	0.04768	-0.165	0.38669	D	0.952273	P;P;P	0.48834	0.916;0.785;0.821	B;B;B	0.41088	0.347;0.197;0.298	T	0.33085	-0.9882	10	0.02654	T	1	.	9.0177	0.36179	0.0:0.9012:0.0:0.0988	.	116;190;190	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	Q	190;190;116	ENSP00000263433:R190Q;ENSP00000365573:R190Q;ENSP00000387833:R116Q	ENSP00000263433:R190Q	R	-	2	0	PPP1R12C	60315649	1.000000	0.71417	0.997000	0.53966	0.481000	0.33189	2.806000	0.47947	2.633000	0.89246	0.561000	0.74099	CGA		0.697	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		33	118	0	0	0	1	0	33	118				
ACTL7B	10880	broad.mit.edu	37	9	111617062	111617062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111617062G>A	ENST00000374667.3	-	1	2177	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	383						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.G383G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATGGAACCGCCGGTCCACA	0.657																																						ENST00000374667.3																			1	Substitution - coding silent(1)	p.G383G(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1147-1149)ggC>ggT		actin-like 7B							36.0	44.0	42.0					9																	111617062		2201	4297	6498	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617062G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1149C>T	9.37:g.111617062G>A							p.G383G	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2177	-			383					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.1149C>T	CCDS6771.1																																																																																				0.657	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		55	434	0	0	0	1	0	55	434				
C1QTNF1	114897	broad.mit.edu	37	17	77040048	77040048	+	5'UTR	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77040048A>G	ENST00000339142.2	+	0	553				C1QTNF1_ENST00000579760.1_5'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.K10E|C1QTNF1_ENST00000583904.1_5'UTR|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000581774.1_5'UTR|C1QTNF1_ENST00000392445.2_5'UTR|C1QTNF1_ENST00000580454.1_5'UTR|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000580474.1_5'UTR	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1						negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCCCGGCAGGAAGATGGGCTC	0.597																																						ENST00000354124.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(28-30)Aag>Gag		C1q and tumor necrosis factor related protein 1							73.0	77.0	76.0					17																	77040048		2203	4300	6503	SO:0001623	5_prime_UTR_variant	114897					collagen		g.chr17:77040048A>G	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.-3A>G	17.37:g.77040048A>G						C1QTNF1_ENST00000583904.1_5'UTR|C1QTNF1_ENST00000580474.1_5'UTR|C1QTNF1_ENST00000581774.1_5'UTR|C1QTNF1_ENST00000580454.1_5'UTR|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000339142.2_5'UTR|C1QTNF1_ENST00000392445.2_5'UTR|C1QTNF1_ENST00000579760.1_5'UTR|C1QTNF1_ENST00000578229.1_5'UTR	p.K10E			Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		2	285	+			0					Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.28A>G	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234876	0.58886	.	.	ENSG00000173918	ENST00000354124;ENST00000392445	T	0.76316	-1.01	3.85	3.85	0.44370	.	1.405150	0.05245	U	0.512823	T	0.69824	0.3154	.	.	.	0.19300	N	0.99997	P;B	0.39480	0.675;0.231	B;B	0.34824	0.19;0.026	T	0.62067	-0.6932	9	0.87932	D	0	.	9.2002	0.37254	1.0:0.0:0.0:0.0	.	10;10	A8K7L9;Q6ZMH6	.;.	E	10	ENSP00000343230:K10E	ENSP00000343230:K10E	K	+	1	0	C1QTNF1	74551643	0.997000	0.39634	0.844000	0.33320	0.010000	0.07245	1.976000	0.40579	1.733000	0.51620	0.459000	0.35465	AAG		0.597	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		81	329	0	0	0	1	0	81	329				
CHD7	55636	broad.mit.edu	37	8	61768711	61768711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61768711G>T	ENST00000423902.2	+	33	7593	c.7114G>T	c.(7114-7116)Gcc>Tcc	p.A2372S	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2372					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGTCGGCCAAGCCAGCATTAG	0.512																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(7114-7116)Gcc>Tcc		chromodomain helicase DNA binding protein 7							35.0	36.0	36.0					8																	61768711		1974	4174	6148	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61768711G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7114G>T	8.37:g.61768711G>T	ENSP00000392028:p.Ala2372Ser					CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	p.A2372S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		33	7593	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2372					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7114G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318603	0.23994	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.45668	0.89	5.94	4.13	0.48395	.	0.071226	0.56097	D	0.000031	T	0.26412	0.0645	N	0.20685	0.6	0.34300	D	0.68418	B	0.16603	0.018	B	0.16722	0.016	T	0.25882	-1.0119	10	0.15066	T	0.55	-5.4239	11.7828	0.52023	0.0662:0.1237:0.8102:0.0	.	2372	Q9P2D1	CHD7_HUMAN	S	2372	ENSP00000392028:A2372S	ENSP00000307304:A2372S	A	+	1	0	CHD7	61931265	1.000000	0.71417	0.301000	0.25044	0.853000	0.48598	4.289000	0.59013	0.825000	0.34637	0.563000	0.77884	GCC		0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		16	48	1	0	9.16793e-09	1	9.60025e-09	16	48				
XKR8	55113	broad.mit.edu	37	1	28293620	28293620	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28293620A>G	ENST00000373884.5	+	3	1705	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	366					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCAGAGGGGTATCAGCTGCCT	0.587																																						ENST00000373884.5																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(1096-1098)tAt>tGt		XK, Kell blood group complex subunit-related family, member 8							51.0	52.0	51.0					1																	28293620		2203	4300	6503	SO:0001583	missense	55113					integral to membrane		g.chr1:28293620A>G	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.1097A>G	1.37:g.28293620A>G	ENSP00000362991:p.Tyr366Cys						p.Y366C	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	3	1705	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	366						Missense_Mutation	SNP	ENST00000373884.5	37	c.1097A>G	CCDS315.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144827	0.21288	.	.	ENSG00000158156	ENST00000373884	.	.	.	4.86	-4.13	0.03904	.	22.119600	0.00864	U	0.001946	T	0.28433	0.0703	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25537	-1.0129	9	0.44086	T	0.13	.	7.3174	0.26507	0.6509:0.1791:0.17:0.0	.	366	Q9H6D3	XKR8_HUMAN	C	366	.	ENSP00000362991:Y366C	Y	+	2	0	XKR8	28166207	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.918000	0.01574	-0.592000	0.05851	-0.462000	0.05337	TAT		0.587	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		39	360	0	0	0	1	0	39	360				
IFT57	55081	broad.mit.edu	37	3	107885720	107885720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107885720G>A	ENST00000264538.3	-	8	1209	c.962C>T	c.(961-963)gCt>gTt	p.A321V	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	321					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CTGGGCTTGAGCTGCACGATA	0.368																																						ENST00000264538.3																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(961-963)gCt>gTt		intraflagellar transport 57 homolog (Chlamydomonas)							129.0	122.0	125.0					3																	107885720		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107885720G>A	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.962C>T	3.37:g.107885720G>A	ENSP00000264538:p.Ala321Val					IFT57_ENST00000468021.1_5'UTR	p.A321V	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		8	1209	-			321					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.962C>T	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185475	0.09495	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.48	4.59	0.56863	.	0.152367	0.64402	D	0.000019	T	0.42108	0.1188	N	0.25426	0.745	0.50171	D	0.999854	B	0.15930	0.015	B	0.18561	0.022	T	0.24835	-1.0149	9	0.30854	T	0.27	.	10.3105	0.43706	0.1468:0.0:0.8532:0.0	.	321	Q9NWB7	IFT57_HUMAN	V	321	.	ENSP00000264538:A321V	A	-	2	0	IFT57	109368410	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	4.848000	0.62874	2.735000	0.93741	0.650000	0.86243	GCT		0.368	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		45	183	0	0	0	1	0	45	183				
KCNQ2	3785	broad.mit.edu	37	20	62046315	62046315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62046315C>T	ENST00000359125.2	-	13	1640	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	KCNQ2_ENST00000344462.4_Missense_Mutation_p.R459H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	489					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGCCCGGCTGCGGTCCCCGAA	0.692																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1381-1383)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						57.0	66.0	63.0					20																	62046315		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62046315C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1466G>A	20.37:g.62046315C>T	ENSP00000352035:p.Arg489His					KCNQ2_ENST00000359125.2_Missense_Mutation_p.R489H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000430658.1_Missense_Mutation_p.R459H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H|KCNQ2_ENST00000370226.1_Missense_Mutation_p.R459H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000370222.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R449H	p.R461H			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		11	1558	-	all_cancers(38;1.24e-11)		489					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1382G>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888755	0.72524	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	5.26	5.26	0.73747	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.140241	0.47852	D	0.000206	D	0.98988	0.9655	L	0.47190	1.495	0.50313	D	0.999868	B;B;B;B	0.33379	0.41;0.41;0.41;0.273	B;B;B;B	0.26202	0.018;0.027;0.04;0.067	D	0.99875	1.1103	10	0.87932	D	0	-15.9725	18.8445	0.92200	0.0:1.0:0.0:0.0	.	461;471;459;489	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	H	471;489;459;461;489;459;461;449;461;461	ENSP00000349789:R471H;ENSP00000352035:R489H;ENSP00000359246:R459H;ENSP00000346601:R461H;ENSP00000352718:R489H;ENSP00000399612:R459H;ENSP00000353668:R461H;ENSP00000339611:R449H;ENSP00000359244:R461H;ENSP00000359242:R461H	ENSP00000339611:R449H	R	-	2	0	KCNQ2	61516759	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.714000	0.54889	2.462000	0.83206	0.478000	0.44815	CGC		0.692	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		118	501	0	0	0	1	0	118	501				
WWTR1	25937	broad.mit.edu	37	3	149245659	149245659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149245659G>A	ENST00000465804.1	-	6	1125	c.869C>T	c.(868-870)tCc>tTc	p.S290F	RNU6-1098P_ENST00000516772.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F|WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	290					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATTAGTGATGGATCTCATGTC	0.453			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(868-870)tCc>tTc		WW domain containing transcription regulator 1							182.0	190.0	187.0					3																	149245659		2203	4300	6503	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149245659G>A	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.869C>T	3.37:g.149245659G>A	ENSP00000419465:p.Ser290Phe					WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F|WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F	p.S290F	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		6	1125	-			290					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.869C>T	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074916	0.55646	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.50001	0.76;0.76;0.76	5.09	5.09	0.68999	.	0.529823	0.21552	N	0.072719	T	0.37265	0.0997	N	0.17082	0.46	0.34495	D	0.705368	B	0.06786	0.001	B	0.04013	0.001	T	0.46843	-0.9162	10	0.87932	D	0	-13.2046	18.9259	0.92544	0.0:0.0:1.0:0.0	.	290	Q9GZV5	WWTR1_HUMAN	F	290;290;290;148	ENSP00000419465:S290F;ENSP00000353847:S290F;ENSP00000419234:S290F	ENSP00000353847:S290F	S	-	2	0	WWTR1	150728349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.211000	0.77933	2.530000	0.85305	0.644000	0.83932	TCC		0.453	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		34	1045	0	0	0	1	0	34	1045				
OBSCN	84033	broad.mit.edu	37	1	228471427	228471427	+	Silent	SNP	C	C	T	rs570299277		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228471427C>T	ENST00000422127.1	+	33	9005	c.8961C>T	c.(8959-8961)tgC>tgT	p.C2987C	OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000570156.2_Silent_p.C3416C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000366707.4_Silent_p.C106C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2987	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		18280	0.001		0.0	False		,,,				2504	0.0					ENST00000570156.2																			2	Substitution - coding silent(2)	p.C3270C(1)|p.C3041C(1)	large_intestine(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10246-10248)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							47.0	54.0	51.0					1																	228471427		2071	4203	6274	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228471427C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8961C>T	1.37:g.228471427C>T						OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000422127.1_Silent_p.C2987C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000366707.4_Silent_p.C106C	p.C3416C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			38	10322	+		Prostate(94;0.0405)	2451			Ig-like 34.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10248C>T	CCDS58065.1																																																																																				0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		81	302	0	0	0	1	0	81	302				
GP2	2813	broad.mit.edu	37	16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20331047A>G	ENST00000381362.4	-	7	987	c.911T>C	c.(910-912)gTc>gCc	p.V304A	GP2_ENST00000302555.5_Missense_Mutation_p.V301A|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.V154A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	304	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAATCATTGACCAAGGAGAG	0.423																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(901-903)gTc>gCc		glycoprotein 2 (zymogen granule membrane)							449.0	418.0	429.0					16																	20331047		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331047A>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.911T>C	16.37:g.20331047A>G	ENSP00000370767:p.Val304Ala					GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.V154A|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000381362.4_Missense_Mutation_p.V304A	p.V301A			P55259	GP2_HUMAN			6	1051	-			304			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.902T>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	1.176	-0.639563	0.03557	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.23	-0.144	0.13440	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.53948	0.1828	N	0.03194	-0.395	0.24878	N	0.992248	B;B;B;B	0.16166	0.001;0.016;0.001;0.001	B;B;B;B	0.23716	0.005;0.048;0.003;0.004	T	0.44620	-0.9316	9	0.02654	T	1	-6.6727	9.2908	0.37786	0.529:0.0:0.471:0.0	.	154;282;301;304	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	301;304;157;154;282	ENSP00000304044:V301A;ENSP00000370767:V304A;ENSP00000370765:V157A;ENSP00000343861:V154A	ENSP00000304044:V301A	V	-	2	0	GP2	20238548	0.017000	0.18338	0.922000	0.36590	0.670000	0.39368	-0.346000	0.07760	0.049000	0.15920	0.533000	0.62120	GTC		0.423	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		186	901	0	0	0	1	0	186	901				
SEPT2	4735	broad.mit.edu	37	2	242282453	242282453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242282453C>A	ENST00000391973.2	+	8	1169	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	214	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATCACTTACCTGATGCAGAA	0.348																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(640-642)cCt>cAt		septin 2							109.0	117.0	115.0					2																	242282453		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242282453C>A	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.641C>A	2.37:g.242282453C>A	ENSP00000375834:p.Pro214His					SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H|SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H	p.P214H	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	8	1169	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	214					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.641C>A	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261942	0.95368	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.79554	0.51;0.51;0.51;0.51;0.51;-1.28;0.51;-1.28	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.975;0.985	D	0.95128	0.8252	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	249;174;214	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	H	214;174;214;214;224;174;214;249;69	ENSP00000375834:P214H;ENSP00000397195:P174H;ENSP00000353157:P214H;ENSP00000375832:P214H;ENSP00000385109:P224H;ENSP00000384525:P174H;ENSP00000385172:P214H;ENSP00000408296:P69H	ENSP00000353157:P214H	P	+	2	0	SEPT2	241931126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.782000	0.95742	0.655000	0.94253	CCT		0.348	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		86	475	1	0	2.1089e-46	1	2.5903e-46	86	475				
ANO3	63982	broad.mit.edu	37	11	26620437	26620437	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620437T>G	ENST00000256737.3	+	16	2415	c.1563T>G	c.(1561-1563)taT>taG	p.Y521*	ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	521					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAGCCAAGTATTACAAGATGG	0.393																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1561-1563)taT>taG		anoctamin 3							73.0	66.0	68.0					11																	26620437		2203	4299	6502	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26620437T>G	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1563T>G	11.37:g.26620437T>G	ENSP00000256737:p.Tyr521*					ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*	p.Y521*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			16	2415	+			521					B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.1563T>G	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	39	7.774718	0.98483	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.98	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8325	0.35093	0.0:0.272:0.0:0.728	.	.	.	.	X	505;505;521;423;375	.	ENSP00000256737:Y521X	Y	+	3	2	ANO3	26577013	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.019000	0.30014	0.152000	0.19188	0.533000	0.62120	TAT		0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		22	136	0	0	0	1	0	22	136				
CASP8AP2	9994	broad.mit.edu	37	6	90576760	90576760	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90576760G>T	ENST00000551025.1	+	0	5188									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCAATCCGAAGAGCGCTCCTT	0.378																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							41.0	42.0	42.0					6																	90576760		1853	4090	5943			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90576760G>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576760G>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	5188	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		42	188	1	0	3.61848e-18	1	4.01023e-18	42	188				
MOK	5891	broad.mit.edu	37	14	102695660	102695660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102695660C>T	ENST00000361847.2	-	12	1457	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	MOK_ENST00000522874.1_Missense_Mutation_p.R408H|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000517966.1_3'UTR|MOK_ENST00000193029.6_Intron|MOK_ENST00000524214.1_Missense_Mutation_p.R379H|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000561150.1_Intron|MOK_ENST00000519058.1_3'UTR|MOK_ENST00000524370.1_3'UTR|MOK_ENST00000522534.1_3'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	409					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R409H(1)									GGTGGGCAGGCGACACTGCTG	0.582																																						ENST00000361847.2																			1	Substitution - Missense(1)	p.R409H(1)	large_intestine(1)								c.(1225-1227)cGc>cAc		MOK protein kinase							63.0	62.0	62.0					14																	102695660		2203	4300	6503	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102695660C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.1226G>A	14.37:g.102695660C>T	ENSP00000355304:p.Arg409His					MOK_ENST00000524370.1_3'UTR|MOK_ENST00000522534.1_3'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000519058.1_3'UTR|MOK_ENST00000517966.1_3'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.R379H|MOK_ENST00000561150.1_Intron|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000193029.6_Intron|MOK_ENST00000522874.1_Missense_Mutation_p.R408H	p.R409H	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			12	1457	-			409					B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.1226G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133950	0.09032	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.75589	-0.43;-0.49;-0.95	5.46	-0.693	0.11298	.	0.271371	0.34386	N	0.004016	T	0.50531	0.1621	N	0.17594	0.5	0.48087	D	0.999585	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.21143	-1.0254	10	0.13108	T	0.6	.	9.062	0.36440	0.0:0.4087:0.0:0.5913	.	379;409	E7ERR8;Q9UQ07	.;MOK_HUMAN	H	408;409;379	ENSP00000429469:R408H;ENSP00000355304:R409H;ENSP00000428942:R379H	ENSP00000355304:R409H	R	-	2	0	RAGE	101765413	0.620000	0.27068	0.480000	0.27341	0.124000	0.20399	0.202000	0.17295	0.021000	0.15133	0.561000	0.74099	CGC		0.582	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			53	229	0	0	0	1	0	53	229				
USP32	84669	broad.mit.edu	37	17	58260584	58260584	+	Silent	SNP	G	G	A	rs144453913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58260584G>A	ENST00000300896.4	-	31	4259	c.4065C>T	c.(4063-4065)gaC>gaT	p.D1355D	USP32_ENST00000592339.1_Silent_p.D1025D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1355	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGGAGCACGTCCTCTTCCC	0.577																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4063-4065)gaC>gaT		ubiquitin specific peptidase 32		G		0,4406		0,0,2203	75.0	68.0	71.0		4065	-2.1	0.1	17	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	USP32	NM_032582.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1355/1605	58260584	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58260584G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4065C>T	17.37:g.58260584G>A						USP32_ENST00000592339.1_Silent_p.D1025D	p.D1355D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		31	4259	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1355					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.4065C>T	CCDS32697.1																																																																																				0.577	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		75	330	0	0	0	1	0	75	330				
CEACAM20	125931	broad.mit.edu	37	19	45024580	45024580	+	RNA	SNP	C	C	T	rs372834997		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45024580C>T	ENST00000454753.1	-	0	1236							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCATAGGGCCCCGTGTCATTC	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		19376	0.0		0.0	False		,,,				2504	0.001					ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20			ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,3894		0,0,1947	56.0	55.0	55.0		958,958,958,958	4.5	0.3	19		55	2,8286		0,2,4142	no	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	125,125,125,125	0,2,6089	TT,TC,CC		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging,probably-damaging	320/597,320/492,320/504,320/585	45024580	2,12180	1947	4144	6091			125931					integral to membrane		g.chr19:45024580C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45024580C>T										Q6UY09	CEA20_HUMAN			0	1236	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.632	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		53	138	0	0	0	1	0	53	138				
TRPM1	4308	broad.mit.edu	37	15	31318431	31318431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318431G>A	ENST00000256552.6	-	27	3687	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Silent_p.F1197F|TRPM1_ENST00000397795.2_Silent_p.F1158F	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTGCTCCTCGAACTCATGCA	0.557																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3589-3591)ttC>ttT		transient receptor potential cation channel, subfamily M, member 1							54.0	57.0	56.0					15																	31318431		2102	4233	6335	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31318431G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3540C>T	15.37:g.31318431G>A						TRPM1_ENST00000256552.6_Silent_p.F1180F|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.F1158F|RP11-348B17.1_ENST00000558755.1_RNA	p.F1197F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	3904	-		all_lung(180;1.92e-11)	1158						Silent	SNP	ENST00000256552.6	37	c.3591C>T	CCDS58346.1																																																																																				0.557	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		39	145	0	0	0	1	0	39	145				
DGAT2L6	347516	broad.mit.edu	37	X	69420280	69420280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69420280C>T	ENST00000333026.3	+	4	543	c.443C>T	c.(442-444)cCa>cTa	p.P148L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	148					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTTTGGATCCCAATTGTGCGA	0.408																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(442-444)cCa>cTa		diacylglycerol O-acyltransferase 2-like 6							112.0	90.0	98.0					X																	69420280		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69420280C>T	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.443C>T	X.37:g.69420280C>T	ENSP00000328036:p.Pro148Leu						p.P148L	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			4	543	+			148					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.443C>T	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902020	0.72754	.	.	ENSG00000184210	ENST00000333026	D	0.96745	-4.11	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	D	0.98444	0.9482	H	0.95079	3.62	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	D	0.99425	1.0934	10	0.72032	D	0.01	-4.8718	14.8682	0.70434	0.0:1.0:0.0:0.0	.	148	Q6ZPD8	DG2L6_HUMAN	L	148	ENSP00000328036:P148L	ENSP00000328036:P148L	P	+	2	0	DGAT2L6	69337005	1.000000	0.71417	0.985000	0.45067	0.375000	0.29983	6.854000	0.75440	2.390000	0.81377	0.600000	0.82982	CCA		0.408	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		43	178	0	0	0	1	0	43	178				
COX4I2	84701	broad.mit.edu	37	20	30227779	30227779	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30227779C>A	ENST00000376075.3	+	3	201	c.126C>A	c.(124-126)gcC>gcA	p.A42A	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	42					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ACTGCTATGCCCAGCGCTACT	0.597																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(124-126)gcC>gcA		cytochrome c oxidase subunit IV isoform 2 (lung)							78.0	67.0	71.0					20																	30227779		2203	4300	6503	SO:0001819	synonymous_variant	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30227779C>A	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.126C>A	20.37:g.30227779C>A						COX4I2_ENST00000490030.1_3'UTR	p.A42A	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		3	201	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		42					Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	c.126C>A	CCDS13187.1																																																																																				0.597	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		38	241	1	0	4.10981e-09	1	4.31816e-09	38	241				
TMEM150C	441027	broad.mit.edu	37	4	83411247	83411247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83411247G>T	ENST00000515780.2	-	7	712	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	TMEM150C_ENST00000449862.2_Missense_Mutation_p.L170M|TMEM150C_ENST00000508701.1_3'UTR			B9EJG8	T150C_HUMAN	transmembrane protein 150C	170						integral component of membrane (GO:0016021)				ovary(1)	1						GATGCCGACAGAATAACCCGT	0.453																																						ENST00000449862.2																			0				ovary(1)	1						c.(508-510)Ctg>Atg		transmembrane protein 150C							193.0	196.0	195.0					4																	83411247		1916	4138	6054	SO:0001583	missense	441027					integral to membrane		g.chr4:83411247G>T	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.508C>A	4.37:g.83411247G>T	ENSP00000420919:p.Leu170Met					TMEM150C_ENST00000515780.1_Missense_Mutation_p.L170M|TMEM150C_ENST00000508701.1_3'UTR	p.L170M	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN			7	826	-			170					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	c.508C>A	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095722	0.36952	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.53857	0.6;0.6	5.62	4.77	0.60923	.	.	.	.	.	T	0.69459	0.3113	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71144	-0.4678	9	0.56958	D	0.05	-5.2962	8.4395	0.32808	0.292:0.0:0.708:0.0	.	170	B9EJG8	T150C_HUMAN	M	170	ENSP00000403438:L170M;ENSP00000420919:L170M	ENSP00000403438:L170M	L	-	1	2	TMEM150C	83630271	1.000000	0.71417	0.841000	0.33234	0.108000	0.19459	2.295000	0.43576	1.337000	0.45525	0.462000	0.41574	CTG		0.453	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		82	348	1	0	1.68136e-41	1	2.04314e-41	82	348				
TFG	10342	broad.mit.edu	37	3	100447675	100447675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100447675G>T	ENST00000240851.4	+	4	728	c.388G>T	c.(388-390)Gga>Tga	p.G130*	TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*|TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	130					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGGAGAACCAGGACCTTCCAC	0.373			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(388-390)Gga>Tga		TRK-fused gene							94.0	99.0	98.0					3																	100447675		2203	4300	6503	SO:0001587	stop_gained	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100447675G>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.388G>T	3.37:g.100447675G>T	ENSP00000240851:p.Gly130*					TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*|TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*	p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			4	728	+			130					D3DN49|G5E9V1|Q15656|Q969I2	Nonsense_Mutation	SNP	ENST00000240851.4	37	c.388G>T	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505062	0.85282	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	.	.	.	5.14	5.14	0.70334	.	0.047579	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.7445	18.9749	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	130	.	ENSP00000240851:G130X	G	+	1	0	TFG	101930365	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.133000	0.94460	2.527000	0.85204	0.655000	0.94253	GGA		0.373	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		83	384	1	0	1.07466e-44	1	1.31567e-44	83	384				
LRP12	29967	broad.mit.edu	37	8	105509583	105509583	+	Nonsense_Mutation	SNP	C	C	T	rs5893689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105509583C>T	ENST00000276654.5	-	5	1305	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	399	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGGCAATGCCAATACCCAT	0.468																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1195-1197)tgG>tgA		low density lipoprotein receptor-related protein 12							115.0	105.0	108.0					8																	105509583		2203	4300	6503	SO:0001587	stop_gained	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509583C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1197G>A	8.37:g.105509583C>T	ENSP00000276654:p.Trp399*					LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*	p.W399*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1305	-			399			LDL-receptor class A 3.		A8K137|B4DRQ2	Nonsense_Mutation	SNP	ENST00000276654.5	37	c.1197G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	38	6.897695	0.97920	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7409	19.7495	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	X	380;399	.	ENSP00000276654:W399X	W	-	3	0	LRP12	105578759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.456000	0.80751	2.685000	0.91497	0.455000	0.32223	TGG		0.468	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		79	311	0	0	0	1	0	79	311				
DIAPH1	1729	broad.mit.edu	37	5	140903715	140903715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140903715C>T	ENST00000398557.4	-	27	3796	c.3656G>A	c.(3655-3657)cGt>cAt	p.R1219H	DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R1216H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R1220H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACCTTGACGGGGCCCTCT	0.532																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3658-3660)cGt>cAt		diaphanous-related formin 1							90.0	95.0	93.0					5																	140903715		2039	4189	6228	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140903715C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3656G>A	5.37:g.140903715C>T	ENSP00000381565:p.Arg1219His					DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R1219H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R1216H	p.R1220H			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		27	3799	-			1219			DAD.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.3659G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639715	0.87760	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.83335	-1.69;-1.68;-1.57;-1.71;-1.7;-1.71;-1.7;-1.69	5.6	5.6	0.85130	Diaphanous autoregulatory (1);	0.060394	0.64402	D	0.000002	D	0.89515	0.6737	L	0.54323	1.7	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	D	0.89446	0.3727	10	0.56958	D	0.05	.	18.3841	0.90461	0.0:1.0:0.0:0.0	.	1209;1210;1219	A0RZB8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	1216;1162;1195;1210;1211;1219;1220;1207	ENSP00000373706:R1216H;ENSP00000429282:R1162H;ENSP00000381570:R1195H;ENSP00000373709:R1210H;ENSP00000381572:R1211H;ENSP00000381565:R1219H;ENSP00000253811:R1220H;ENSP00000428268:R1207H	ENSP00000253811:R1220H	R	-	2	0	DIAPH1	140883899	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.183000	0.77697	2.647000	0.89833	0.650000	0.86243	CGT		0.532	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		77	322	0	0	0	1	0	77	322				
FXR2	9513	broad.mit.edu	37	17	7497589	7497589	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7497589T>C	ENST00000250113.7	-	10	1321	c.987A>G	c.(985-987)gaA>gaG	p.E329E	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	329						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATTATCACCTTCCACTCGAA	0.478																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(985-987)gaA>gaG		fragile X mental retardation, autosomal homolog 2							121.0	113.0	115.0					17																	7497589		1904	4114	6018	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7497589T>C	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.987A>G	17.37:g.7497589T>C							p.E329E	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	10	1321	-			329					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.987A>G	CCDS45604.1																																																																																				0.478	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			43	162	0	0	0	1	0	43	162				
MTM1	4534	broad.mit.edu	37	X	149809786	149809786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149809786C>A	ENST00000370396.2	+	8	627	c.573C>A	c.(571-573)tgC>tgA	p.C191*	MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	191	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTAATAAGTGCTATGAGCTCT	0.433																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(571-573)tgC>tgA		myotubularin 1							171.0	155.0	160.0					X																	149809786		2203	4300	6503	SO:0001587	stop_gained	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149809786C>A	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.573C>A	X.37:g.149809786C>A	ENSP00000359423:p.Cys191*					MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*	p.C191*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			8	627	+	Acute lymphoblastic leukemia(192;6.56e-05)		191			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Nonsense_Mutation	SNP	ENST00000370396.2	37	c.573C>A	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788925	0.96945	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	.	.	.	5.44	3.67	0.42095	.	0.258803	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.5168	0.07727	0.1805:0.5115:0.0:0.3081	.	.	.	.	X	191;96;76;154	.	ENSP00000359423:C191X	C	+	3	2	MTM1	149560444	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.628000	0.24522	0.585000	0.29608	0.529000	0.55759	TGC		0.433	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		103	340	1	0	5.60141e-34	1	6.65258e-34	103	340				
CDK5RAP2	55755	broad.mit.edu	37	9	123253655	123253655	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123253655T>G	ENST00000349780.4	-	13	1591	c.1412A>C	c.(1411-1413)aAa>aCa	p.K471T	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	471					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTGTGCAATTTTTTATTGCT	0.323																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1411-1413)aAa>aCa		CDK5 regulatory subunit associated protein 2							203.0	180.0	187.0					9																	123253655		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123253655T>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1412A>C	9.37:g.123253655T>G	ENSP00000343818:p.Lys471Thr					CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T	p.K471T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			13	1591	-			471					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1412A>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270117	0.23221	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.59	0.56863	.	0.397699	0.24240	N	0.040267	T	0.53706	0.1813	M	0.64997	1.995	0.09310	N	0.999992	D;D;P;D	0.56746	0.977;0.977;0.837;0.961	P;P;B;P	0.53593	0.73;0.656;0.373;0.541	T	0.45963	-0.9225	10	0.22109	T	0.4	.	10.8935	0.47008	0.1401:0.0:0.0:0.8599	.	272;471;471;471	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	T	471;471;471;471;473	ENSP00000354065:K471T;ENSP00000352258:K471T;ENSP00000343818:K471T;ENSP00000353317:K471T	ENSP00000341695:K473T	K	-	2	0	CDK5RAP2	122293476	0.842000	0.29525	0.005000	0.12908	0.050000	0.14768	3.341000	0.52151	0.965000	0.38133	0.528000	0.53228	AAA		0.323	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		53	192	0	0	0	1	0	53	192				
ATP4A	495	broad.mit.edu	37	19	36046143	36046143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36046143C>T	ENST00000262623.3	-	15	2279	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	751					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TTGGCAGCATCTGAGCCAGCG	0.602																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2251-2253)Gat>Aat		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						96.0	80.0	86.0					19																	36046143		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046143C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2251G>A	19.37:g.36046143C>T	ENSP00000262623:p.Asp751Asn						p.D751N	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		15	2279	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		751					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2251G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418517	0.83559	.	.	ENSG00000105675	ENST00000262623	D	0.98550	-4.99	4.66	4.66	0.58398	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99357	0.9774	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98344	1.0540	10	0.87932	D	0	.	15.0789	0.72099	0.0:1.0:0.0:0.0	.	751	P20648	ATP4A_HUMAN	N	751	ENSP00000262623:D751N	ENSP00000262623:D751N	D	-	1	0	ATP4A	40737983	1.000000	0.71417	0.888000	0.34837	0.752000	0.42762	7.651000	0.83577	2.425000	0.82216	0.462000	0.41574	GAT		0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		78	255	0	0	0	1	0	78	255				
PCDH15	65217	broad.mit.edu	37	10	55719536	55719536	+	Silent	SNP	G	G	T	rs535499066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55719536G>T	ENST00000320301.6	-	23	3472	c.3078C>A	c.(3076-3078)gtC>gtA	p.V1026V	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000414778.1_Silent_p.V1031V|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000373965.2_Silent_p.V1033V|PCDH15_ENST00000395433.1_Silent_p.V1004V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1026	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V1031V(1)|p.V1026V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGATGTAAGACAAGAATCT	0.398										HNSCC(58;0.16)																												ENST00000373965.2																			2	Substitution - coding silent(2)	p.V1031V(1)|p.V1026V(1)	large_intestine(2)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3097-3099)gtC>gtA		protocadherin-related 15							88.0	79.0	82.0					10																	55719536		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55719536G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3078C>A	10.37:g.55719536G>T		HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000414778.1_Silent_p.V1031V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000320301.6_Silent_p.V1026V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.V1004V	p.V1033V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			24	3493	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1026			Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3099C>A	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		50	179	1	0	2.81731e-22	1	3.18527e-22	50	179				
NLRC5	84166	broad.mit.edu	37	16	57068112	57068112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57068112C>T	ENST00000262510.6	+	13	2801	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V	NLRC5_ENST00000436936.1_Missense_Mutation_p.A859V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	859					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCCACGATGCGGAGGCCCTC	0.622																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(2575-2577)gCg>gTg		NLR family, CARD domain containing 5							55.0	45.0	49.0					16																	57068112		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57068112C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2576C>T	16.37:g.57068112C>T	ENSP00000262510:p.Ala859Val					NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A859V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V	p.A859V			Q86WI3	NLRC5_HUMAN			13	2801	+		all_neural(199;0.225)	859					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2576C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918783	0.33908	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.82	0.146	0.14833	.	1.318100	0.05844	N	0.619853	T	0.25044	0.0608	N	0.05124	-0.11	0.09310	N	1	P;P;B;B	0.37061	0.58;0.542;0.375;0.051	B;B;B;B	0.33890	0.144;0.172;0.089;0.014	T	0.07673	-1.0760	10	0.06365	T	0.9	.	7.0124	0.24869	0.0:0.4574:0.0:0.5426	.	859;859;859;859	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	V	859;859;859;333;859;366;158	ENSP00000262510:A859V;ENSP00000308886:A859V;ENSP00000389739:A859V;ENSP00000441727:A859V;ENSP00000441597:A366V;ENSP00000440153:A158V	ENSP00000262510:A859V	A	+	2	0	NLRC5	55625613	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.010000	0.03656	-0.157000	0.11059	-1.244000	0.01528	GCG		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		18	128	0	0	0	1	0	18	128				
PSME4	23198	broad.mit.edu	37	2	54117259	54117259	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54117259A>G	ENST00000404125.1	-	37	4333	c.4278T>C	c.(4276-4278)gcT>gcC	p.A1426A	PSME4_ENST00000476586.1_5'Flank|PSME4_ENST00000421748.2_Silent_p.A570A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1426					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTATACAAGCTCCCCAGT	0.398																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(4276-4278)gcT>gcC		proteasome (prosome, macropain) activator subunit 4							142.0	145.0	144.0					2																	54117259		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54117259A>G	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4278T>C	2.37:g.54117259A>G						PSME4_ENST00000421748.2_Silent_p.A570A	p.A1426A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		37	4333	-			1426					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.4278T>C	CCDS33197.2																																																																																				0.398	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		150	474	0	0	0	1	0	150	474				
HDAC6	10013	broad.mit.edu	37	X	48674663	48674663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48674663C>T	ENST00000334136.5	+	18	1787	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	HDAC6_ENST00000376619.2_Missense_Mutation_p.L537F|HDAC6_ENST00000444343.2_Missense_Mutation_p.L551F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	537	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGCTGAGCTGCTCACCTGTCA	0.662																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1609-1611)Ctc>Ttc		histone deacetylase 6	Vorinostat(DB02546)						21.0	20.0	20.0					X																	48674663		2203	4296	6499	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48674663C>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1609C>T	X.37:g.48674663C>T	ENSP00000334061:p.Leu537Phe					HDAC6_ENST00000444343.2_Missense_Mutation_p.L551F|HDAC6_ENST00000376619.2_Missense_Mutation_p.L537F	p.L537F			Q9UBN7	HDAC6_HUMAN			18	1787	+			537			Histone deacetylase 2.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1609C>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	4.748	0.139103	0.09083	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72167	-0.63;-0.63;-0.63	5.85	4.08	0.47627	Histone deacetylase domain (2);	0.398067	0.26159	N	0.025993	T	0.69682	0.3138	M	0.86502	2.82	0.42683	D	0.993555	B;B;B	0.15473	0.005;0.013;0.005	B;B;B	0.23852	0.023;0.049;0.023	T	0.60089	-0.7331	10	0.09843	T	0.71	-15.8329	8.3677	0.32397	0.154:0.7629:0.0:0.0831	.	527;185;537	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	F	551;537;537;537	ENSP00000398566:L551F;ENSP00000334061:L537F;ENSP00000365804:L537F	ENSP00000334061:L537F	L	+	1	0	HDAC6	48559607	0.951000	0.32395	0.992000	0.48379	0.622000	0.37654	1.277000	0.33167	0.592000	0.29728	-1.026000	0.02426	CTC		0.662	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		42	137	0	0	0	1	0	42	137				
ELP4	26610	broad.mit.edu	37	11	31805078	31805078	+	3'UTR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31805078C>A	ENST00000350638.5	+	0	1316				Z83307.3_ENST00000606377.1_lincRNA|ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000379163.5_Missense_Mutation_p.P475T	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCTAGGGATTCCTCCTTAGTC	0.478																																						ENST00000379163.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(1423-1425)Cct>Act		elongator acetyltransferase complex subunit 4							48.0	54.0	52.0					11																	31805078		1926	4136	6062	SO:0001624	3_prime_UTR_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31805078C>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.*6C>A	11.37:g.31805078C>A						ELP4_ENST00000350638.5_3'UTR|ELP4_ENST00000395934.2_3'UTR	p.P475T			Q96EB1	ELP4_HUMAN			11	1438	+	Lung SC(675;0.225)		0					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.1423C>A	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768663	0.31320	.	.	ENSG00000109911	ENST00000379163	T	0.47869	0.83	5.51	1.13	0.20643	.	.	.	.	.	T	0.31295	0.0792	.	.	.	0.80722	D	1	B	0.28713	0.22	B	0.19148	0.024	T	0.24870	-1.0148	8	0.87932	D	0	.	3.7912	0.08721	0.0:0.264:0.3841:0.3519	.	475	B4E3W0	.	T	475	ENSP00000368461:P475T	ENSP00000368461:P475T	P	+	1	0	ELP4	31761654	0.995000	0.38212	0.462000	0.27118	0.794000	0.44872	1.032000	0.30178	0.716000	0.32124	0.557000	0.71058	CCT		0.478	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		72	309	1	0	4.37588e-27	1	5.05892e-27	72	309				
PRPF8	10594	broad.mit.edu	37	17	1585273	1585273	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1585273C>T	ENST00000572621.1	-	4	759	c.494G>A	c.(493-495)cGt>cAt	p.R165H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	165					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGGGGAAAACGCATCCTCTT	0.502																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(493-495)cGt>cAt		pre-mRNA processing factor 8							89.0	88.0	88.0					17																	1585273		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585273C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.494G>A	17.37:g.1585273C>T	ENSP00000460348:p.Arg165His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H	p.R165H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	4	759	-			165					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.494G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	32	5.154767	0.94686	.	.	ENSG00000174231	ENST00000304992	T	0.55588	0.51	5.47	5.47	0.80525	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.82096	-0.0626	10	0.72032	D	0.01	.	19.3655	0.94460	0.0:1.0:0.0:0.0	.	165	Q6P2Q9	PRP8_HUMAN	H	165	ENSP00000304350:R165H	ENSP00000304350:R165H	R	-	2	0	PRPF8	1532023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.789000	0.85783	2.580000	0.87095	0.550000	0.68814	CGT		0.502	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			75	294	0	0	0	1	0	75	294				
CASC5	57082	broad.mit.edu	37	15	40949277	40949277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40949277G>T	ENST00000346991.5	+	24	6990	c.6600G>T	c.(6598-6600)aaG>aaT	p.K2200N	CASC5_ENST00000399668.2_Missense_Mutation_p.K2174N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2200	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		tagttcataagcttattttcc	0.368																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(6598-6600)aaG>aaT		cancer susceptibility candidate 5							31.0	29.0	29.0					15																	40949277		1819	4087	5906	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40949277G>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6600G>T	15.37:g.40949277G>T	ENSP00000335463:p.Lys2200Asn					CASC5_ENST00000399668.2_Missense_Mutation_p.K2174N	p.K2200N			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	24	6990	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2200			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6600G>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655224	0.67472	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.06068	3.35;3.35	5.73	0.0106	0.14083	.	0.476666	0.18695	U	0.133755	T	0.04318	0.0119	L	0.34521	1.04	0.28308	N	0.922827	B;B	0.14438	0.01;0.01	B;B	0.16722	0.016;0.016	T	0.42498	-0.9448	10	0.16896	T	0.51	.	6.8251	0.23878	0.327:0.1318:0.5412:0.0	.	2174;2200	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	N	2200;2174	ENSP00000335463:K2200N;ENSP00000382576:K2174N	ENSP00000335463:K2200N	K	+	3	2	CASC5	38736569	0.994000	0.37717	0.999000	0.59377	0.973000	0.67179	-0.017000	0.12590	0.089000	0.17243	-0.150000	0.13652	AAG		0.368	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		16	89	1	0	6.72482e-11	1	7.15107e-11	16	89				
OR52I1	390037	broad.mit.edu	37	11	4615645	4615645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615645G>A	ENST00000530443.2	+	1	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	OR52I1_ENST00000450052.2_Missense_Mutation_p.R150H	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTTGACCGCTATGTAGCC	0.502																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(448-450)cGc>cAc		olfactory receptor, family 52, subfamily I, member 1							49.0	44.0	46.0					11																	4615645		2200	4278	6478	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615645G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.377G>A	11.37:g.4615645G>A	ENSP00000436453:p.Arg126His					OR52I1_ENST00000530443.2_Missense_Mutation_p.R126H	p.R150H			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	449	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	126					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.449G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498814	0.64298	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	D;D	0.97161	-4.27;-4.27	4.96	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000351	D	0.98501	0.9500	M	0.92459	3.31	0.35022	D	0.757953	D	0.89917	1.0	D	0.68765	0.96	D	0.99944	1.1445	9	0.62326	D	0.03	-0.2042	11.6875	0.51494	0.0865:0.0:0.9135:0.0	.	126	Q8NGK6	O52I1_HUMAN	H	150;126	ENSP00000409094:R150H;ENSP00000436453:R126H	ENSP00000409094:R150H	R	+	2	0	OR52I1	4572221	0.442000	0.25633	1.000000	0.80357	0.682000	0.39822	3.290000	0.51755	1.470000	0.48102	-0.226000	0.12346	CGC		0.502	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		35	185	0	0	0	1	0	35	185				
GBA3	57733	broad.mit.edu	37	4	22749357	22749357	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22749357C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACCAGGAAGCTGCTAAAAGA	0.428																																						ENST00000511446.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							133.0	131.0	131.0					4																	22749357		1902	4118	6020			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749357C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749357C>A						GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	728	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.428	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			118	523	1	0	1.47488e-52	1	1.83463e-52	118	523				
CLK2	1196	broad.mit.edu	37	1	155234050	155234050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155234050G>A	ENST00000368361.4	-	11	1503	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	CLK2_ENST00000361168.5_Silent_p.I395I|CLK2_ENST00000355560.4_Silent_p.I394I|CLK2_ENST00000497188.1_5'UTR|SCAMP3_ENST00000302631.3_5'Flank|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000536801.1_Silent_p.I396I			P49760	CLK2_HUMAN	CDC-like kinase 2	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGACCCAAGATCCTTTCCA	0.468								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1186-1188)atC>atT	Other conserved DNA damage response genes	CDC-like kinase 2							114.0	106.0	109.0					1																	155234050		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234050G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1188C>T	1.37:g.155234050G>A						CLK2_ENST00000536801.1_Silent_p.I396I|CLK2_ENST00000355560.4_Silent_p.I394I|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.I395I	p.I396I			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		11	1503	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		396			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.1188C>T																																																																																					0.468	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		60	316	0	0	0	1	0	60	316				
PTPN14	5784	broad.mit.edu	37	1	214557310	214557310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557310C>T	ENST00000366956.5	-	13	2082	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	630					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCTTGGTGGCCGTGAGGGGC	0.622																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1888-1890)Gcc>Acc		protein tyrosine phosphatase, non-receptor type 14							47.0	41.0	43.0					1																	214557310		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557310C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1888G>A	1.37:g.214557310C>T	ENSP00000355923:p.Ala630Thr					PTPN14_ENST00000543945.1_3'UTR	p.A630T	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2082	-			630					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1888G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480577	0.44044	.	.	ENSG00000152104	ENST00000366956	T	0.68765	-0.35	5.66	4.74	0.60224	.	0.177439	0.49916	D	0.000139	T	0.57695	0.2071	L	0.46157	1.445	0.80722	D	1	B	0.21821	0.061	B	0.24848	0.056	T	0.53201	-0.8472	10	0.30078	T	0.28	.	9.5481	0.39293	0.1429:0.7858:0.0:0.0712	.	630	Q15678	PTN14_HUMAN	T	630	ENSP00000355923:A630T	ENSP00000355923:A630T	A	-	1	0	PTPN14	212623933	0.998000	0.40836	0.987000	0.45799	0.619000	0.37552	3.035000	0.49759	1.367000	0.46095	0.557000	0.71058	GCC		0.622	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	327	0	0	0	1	0	9	327				
PKDREJ	10343	broad.mit.edu	37	22	46657717	46657717	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46657717A>G	ENST00000253255.5	-	1	1502	c.1503T>C	c.(1501-1503)ggT>ggC	p.G501G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	501	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAGCATCTCACCACCTGAAG	0.373																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1501-1503)ggT>ggC		polycystin (PKD) family receptor for egg jelly							153.0	173.0	166.0					22																	46657717		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657717A>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1503T>C	22.37:g.46657717A>G							p.G501G	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1502	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	501			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1503T>C	CCDS14073.1																																																																																				0.373	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		237	980	0	0	0	1	0	237	980				
SSTR4	6754	broad.mit.edu	37	20	23016448	23016448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016448C>T	ENST00000255008.3	+	1	392	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	110					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCGCCCTGCGCCACTGGCC	0.642																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(328-330)Cgc>Tgc		somatostatin receptor 4							85.0	85.0	85.0					20																	23016448		2201	4297	6498	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016448C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.328C>T	20.37:g.23016448C>T	ENSP00000255008:p.Arg110Cys					RP4-753D10.3_ENST00000440921.1_RNA	p.R110C	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	392	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		110					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.328C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357829	0.61403	.	.	ENSG00000132671	ENST00000255008	T	0.20463	2.07	3.73	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.181706	0.36854	U	0.002378	T	0.39064	0.1064	M	0.76328	2.33	0.39071	D	0.96071	D	0.61697	0.99	P	0.61658	0.892	T	0.31530	-0.9940	10	0.51188	T	0.08	.	9.8498	0.41051	0.0:0.8954:0.0:0.1045	.	110	P31391	SSR4_HUMAN	C	110	ENSP00000255008:R110C	ENSP00000255008:R110C	R	+	1	0	SSTR4	22964448	0.663000	0.27448	0.988000	0.46212	0.966000	0.64601	1.491000	0.35583	0.765000	0.33221	0.561000	0.74099	CGC		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			90	765	0	0	0	1	0	90	765				
TTLL3	26140	broad.mit.edu	37	3	9874919	9874919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9874919C>T	ENST00000547186.1	+	11	1902	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000430793.1_Silent_p.G350G|TTLL3_ENST00000455274.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	562					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCCAGCGAGGCTCTGGGGAAG	0.642																																						ENST00000547186.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1684-1686)ggC>ggT		tubulin tyrosine ligase-like family, member 3							27.0	29.0	28.0					3																	9874919		1912	4111	6023	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9874919C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1686C>T	3.37:g.9874919C>T						TTLL3_ENST00000430793.1_Silent_p.G350G|TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000397241.1_Intron|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000455274.1_Intron	p.G562G	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			11	1902	+	Medulloblastoma(99;0.227)		562					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.1686C>T																																																																																					0.642	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		48	168	0	0	0	1	0	48	168				
KCND1	3750	broad.mit.edu	37	X	48823034	48823034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48823034G>A	ENST00000218176.3	-	4	2715	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	473					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CTGTTCAAAGGCAGAACGGTT	0.547																																						ENST00000218176.3																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1417-1419)gCc>gTc		potassium voltage-gated channel, Shal-related subfamily, member 1							125.0	92.0	103.0					X																	48823034		2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48823034G>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1418C>T	X.37:g.48823034G>A	ENSP00000218176:p.Ala473Val					KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	p.A473V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN			4	2715	-			473					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1418C>T	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017964	0.35606	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.82433	-1.61;-1.61	5.66	5.66	0.87406	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	L	0.51422	1.61	0.58432	D	0.999999	B	0.32467	0.372	B	0.32090	0.14	T	0.76069	-0.3094	10	0.22109	T	0.4	.	17.4122	0.87489	0.0:0.0:1.0:0.0	.	473	Q9NSA2	KCND1_HUMAN	V	96;473	ENSP00000365660:A96V;ENSP00000218176:A473V	ENSP00000218176:A473V	A	-	2	0	KCND1	48707978	0.998000	0.40836	0.986000	0.45419	0.413000	0.31143	8.771000	0.91751	2.381000	0.81170	0.523000	0.50628	GCC		0.547	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		7	92	0	0	0	1	0	7	92				
PAM	5066	broad.mit.edu	37	5	102295657	102295657	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102295657C>A	ENST00000438793.3	+	12	1454	c.984C>A	c.(982-984)acC>acA	p.T328T	PAM_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000455264.2_Silent_p.T328T|PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	328	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CTTTCATGACCTGTACCCAGA	0.408																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(982-984)acC>acA		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						152.0	137.0	142.0					5																	102295657		2203	4300	6503	SO:0001819	synonymous_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102295657C>A	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.984C>A	5.37:g.102295657C>A						PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000455264.2_Silent_p.T328T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000379787.4_5'UTR	p.T328T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	12	1454	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	328			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	37	c.984C>A	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143010	0.21205	.	.	ENSG00000145730	ENST00000379799	.	.	.	5.58	2.75	0.32379	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33394	-0.9870	4	.	.	.	.	3.1965	0.06635	0.1252:0.5677:0.1214:0.1858	.	.	.	.	M	101	.	.	L	+	1	2	PAM	102323556	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	0.210000	0.17455	0.733000	0.32492	0.460000	0.39030	CTG		0.408	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		88	368	1	0	3.98749e-38	1	4.80009e-38	88	368				
GK	2710	broad.mit.edu	37	X	30686168	30686168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30686168C>T	ENST00000378941.3	+	3	192	c.192C>T	c.(190-192)gtC>gtT	p.V64V	GK_ENST00000378943.3_Silent_p.V64V|GK_ENST00000378945.3_Silent_p.V64V|GK_ENST00000378946.3_Silent_p.V64V|GK_ENST00000427190.1_5'UTR			P32189	GLPK_HUMAN	glycerol kinase	64					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						TACATTCTGTCTATGAGTGTA	0.313																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(190-192)gtC>gtT		glycerol kinase							68.0	59.0	62.0					X																	30686168		2202	4293	6495	SO:0001819	synonymous_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30686168C>T	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.192C>T	X.37:g.30686168C>T						GK_ENST00000378946.3_Silent_p.V64V|GK_ENST00000427190.1_5'UTR|GK_ENST00000378941.3_Silent_p.V64V|GK_ENST00000378945.3_Silent_p.V64V	p.V64V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			3	371	+			64					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Silent	SNP	ENST00000378941.3	37	c.192C>T																																																																																					0.313	GK-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000056171.1	NM_000167		40	158	0	0	0	1	0	40	158				
ARID1A	8289	broad.mit.edu	37	1	27101019	27101019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27101019C>T	ENST00000324856.7	+	18	4672	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1434					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGCAATGCCTATCCTGCC	0.617			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4300-4302)gCc>gTc		AT rich interactive domain 1A (SWI-like)							67.0	68.0	68.0					1																	27101019		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101019C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4301C>T	1.37:g.27101019C>T	ENSP00000320485:p.Ala1434Val					ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V	p.A1434V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4672	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1434					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4301C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372725	0.61624	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.02863	4.29;4.13	5.54	5.54	0.83059	.	0.194762	0.38605	N	0.001636	T	0.02455	0.0075	N	0.14661	0.345	0.80722	D	1	P;P;B	0.48764	0.822;0.915;0.278	B;B;B	0.35039	0.194;0.164;0.057	T	0.61352	-0.7080	10	0.56958	D	0.05	-4.606	19.6787	0.95950	0.0:1.0:0.0:0.0	.	1051;1434;1087	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	V	1434;1051	ENSP00000320485:A1434V;ENSP00000363267:A1051V	ENSP00000320485:A1434V	A	+	2	0	ARID1A	26973606	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	5.460000	0.66691	2.890000	0.99128	0.650000	0.86243	GCC		0.617	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		108	382	0	0	0	1	0	108	382				
ZNF443	10224	broad.mit.edu	37	19	12541219	12541219	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541219T>C	ENST00000301547.5	-	4	1964	c.1767A>G	c.(1765-1767)gaA>gaG	p.E589E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	589					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATTGTGGACATTCATAGGATT	0.413																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1765-1767)gaA>gaG		zinc finger protein 443							124.0	123.0	123.0					19																	12541219		2203	4300	6503	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541219T>C	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1767A>G	19.37:g.12541219T>C						CTD-3105H18.16_ENST00000595562.1_Intron	p.E589E	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1964	-			589						Silent	SNP	ENST00000301547.5	37	c.1767A>G	CCDS32918.1																																																																																				0.413	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		101	420	0	0	0	1	0	101	420				
FAM91A1	157769	broad.mit.edu	37	8	124792281	124792281	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124792281A>C	ENST00000334705.7	+	7	852	c.606A>C	c.(604-606)caA>caC	p.Q202H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	202										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGGCCCTCAACTCTCTGGAT	0.318																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(604-606)caA>caC		family with sequence similarity 91, member A1							117.0	109.0	112.0					8																	124792281		1864	4106	5970	SO:0001583	missense	157769							g.chr8:124792281A>C	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.606A>C	8.37:g.124792281A>C	ENSP00000335082:p.Gln202His					FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	p.Q202H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		7	852	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		202					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.606A>C	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265700	0.80358	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.47869	0.83;1.41	5.51	-7.82	0.01205	.	0.000000	0.85682	U	0.000000	T	0.62122	0.2402	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.64830	0.994;0.994	D;D	0.78314	0.991;0.991	T	0.74250	-0.3726	10	0.59425	D	0.04	.	17.649	0.88157	0.6315:0.0:0.3685:0.0	.	202;202	E7ER68;Q658Y4	.;F91A1_HUMAN	H	202	ENSP00000429491:Q202H;ENSP00000335082:Q202H	ENSP00000335082:Q202H	Q	+	3	2	FAM91A1	124861462	0.993000	0.37304	0.698000	0.30274	0.994000	0.84299	0.228000	0.17814	-1.609000	0.01585	-0.396000	0.06452	CAA		0.318	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		61	232	0	0	0	1	0	61	232				
PCDHGA9	56107	broad.mit.edu	37	5	140783390	140783390	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783390C>A	ENST00000573521.1	+	1	871	c.871C>A	c.(871-873)Cta>Ata	p.L291I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATCTCTGCTATTCCAGCT	0.383																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(871-873)Cta>Ata									86.0	90.0	89.0					5																	140783390		1829	4091	5920	SO:0001583	missense	0							g.chr5:140783390C>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.871C>A	5.37:g.140783390C>A	ENSP00000460274:p.Leu291Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L291I	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	871	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.871C>A	CCDS58981.1																																																																																				0.383	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		97	480	1	0	9.45097e-43	1	1.15162e-42	97	480				
MUC16	94025	broad.mit.edu	37	19	9066782	9066782	+	Silent	SNP	C	C	T	rs547807971	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9066782C>T	ENST00000397910.4	-	3	20867	c.20664G>A	c.(20662-20664)gcG>gcA	p.A6888A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6890	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACATTAGTCGCTGCTGTGC	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		22607	0.0		0.0	False		,,,				2504	0.002					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20662-20664)gcG>gcA		mucin 16, cell surface associated							240.0	228.0	232.0					19																	9066782		2122	4247	6369	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066782C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20664G>A	19.37:g.9066782C>T							p.A6888A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	20867	-			6890			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.20664G>A	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		159	781	0	0	0	1	0	159	781				
SRGAP1	57522	broad.mit.edu	37	12	64521459	64521459	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64521459A>G	ENST00000355086.3	+	20	3019	c.2495A>G	c.(2494-2496)gAc>gGc	p.D832G	SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D809G	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	832					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCATCCAAGGACATGAACTCC	0.557																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(2494-2496)gAc>gGc		SLIT-ROBO Rho GTPase activating protein 1							84.0	69.0	74.0					12																	64521459		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64521459A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2495A>G	12.37:g.64521459A>G	ENSP00000347198:p.Asp832Gly					SRGAP1_ENST00000357825.3_Missense_Mutation_p.D809G|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G	p.D832G	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	20	3019	+			832					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.2495A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307441	0.40795	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.19105	3.19;2.75;2.17	5.46	5.46	0.80206	Src homology-3 domain (1);	0.000000	0.36815	U	0.002397	T	0.14356	0.0347	N	0.17474	0.49	0.58432	D	0.999999	B;B	0.10296	0.0;0.003	B;B	0.12837	0.002;0.008	T	0.10451	-1.0629	9	.	.	.	.	15.825	0.78698	1.0:0.0:0.0:0.0	.	832;769	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	G	832;809;769	ENSP00000347198:D832G;ENSP00000350480:D809G;ENSP00000437948:D769G	.	D	+	2	0	SRGAP1	62807726	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.167000	0.77562	2.198000	0.70561	0.528000	0.53228	GAC		0.557	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	216	0	0	0	1	0	6	216				
SH2D3C	10044	broad.mit.edu	37	9	130511771	130511771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130511771C>T	ENST00000314830.8	-	5	971	c.858G>A	c.(856-858)gaG>gaA	p.E286E	SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373276.3_Silent_p.E218E|SH2D3C_ENST00000373274.3_Silent_p.E126E	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	286	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCTCCTGCTCAAACAGGT	0.592																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(856-858)gaG>gaA		SH2 domain containing 3C							104.0	88.0	93.0					9																	130511771		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511771C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.858G>A	9.37:g.130511771C>T						SH2D3C_ENST00000373276.3_Silent_p.E218E|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.E126E	p.E286E	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	971	-			286			SH2.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.858G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045880	0.19748	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.67	4.58	0.56647	.	.	.	.	.	T	0.69628	0.3132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67624	-0.5623	4	.	.	.	-0.3882	14.6077	0.68493	0.0:0.9177:0.0:0.0823	.	.	.	.	N	123	.	.	S	-	2	0	SH2D3C	129551592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	2.686000	0.91538	0.561000	0.74099	AGC		0.592	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		37	154	0	0	0	1	0	37	154				
MID1	4281	broad.mit.edu	37	X	10417463	10417463	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10417463A>C	ENST00000317552.4	-	10	2349	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000479925.1_5'Flank|MID1_ENST00000380785.1_Missense_Mutation_p.I650S|MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S|MID1_ENST00000380782.2_3'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	650	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCAGTGATAATCGTCAGACA	0.532																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1948-1950)aTt>aGt		midline 1 (Opitz/BBB syndrome)							86.0	70.0	76.0					X																	10417463		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417463A>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1949T>G	X.37:g.10417463A>C	ENSP00000312678:p.Ile650Ser					MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S|MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380785.1_Missense_Mutation_p.I650S	p.I650S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			10	2349	-			650			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1949T>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857486	0.91433	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	M	0.80332	2.49	0.58432	D	0.999999	D;D;D	0.57899	0.981;0.981;0.961	P;P;D	0.64410	0.891;0.868;0.925	D	0.84339	0.0526	10	0.87932	D	0	.	14.7167	0.69275	1.0:0.0:0.0:0.0	.	650;650;600	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	S	650;650;650;650;650;650;600	ENSP00000414521:I650S;ENSP00000312678:I650S;ENSP00000370162:I650S;ENSP00000370156:I650S;ENSP00000370164:I650S;ENSP00000370157:I650S	ENSP00000312678:I650S	I	-	2	0	MID1	10377463	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	8.772000	0.91757	1.857000	0.53885	0.345000	0.21793	ATT		0.532	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			71	222	0	0	0	1	0	71	222				
UGT3A1	133688	broad.mit.edu	37	5	35965947	35965947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965947C>A	ENST00000274278.3	-	4	741	c.384G>T	c.(382-384)aaG>aaT	p.K128N	UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N|UGT3A1_ENST00000507113.1_Missense_Mutation_p.K94N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	128						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATTATATCCTTTCTGCTTA	0.308																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(382-384)aaG>aaT		UDP glycosyltransferase 3 family, polypeptide A1							43.0	43.0	43.0					5																	35965947		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965947C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.384G>T	5.37:g.35965947C>A	ENSP00000274278:p.Lys128Asn					UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.K94N	p.K128N	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	741	-	all_lung(31;0.000197)		128					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.384G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762943	0.31228	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	3.0	0.921	0.19403	.	1.432420	0.04533	N	0.386617	T	0.55721	0.1938	L	0.52759	1.655	0.09310	N	1	B;B;B;B	0.17038	0.007;0.02;0.004;0.011	B;B;B;B	0.23716	0.015;0.048;0.007;0.033	T	0.44050	-0.9353	10	0.59425	D	0.04	.	3.3871	0.07276	0.4313:0.3496:0.0:0.2191	.	94;128;74;128	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	N	128;128;94;74	ENSP00000274278:K128N;ENSP00000427079:K128N;ENSP00000426100:K94N;ENSP00000328033:K74N	ENSP00000274278:K128N	K	-	3	2	UGT3A1	36001704	0.000000	0.05858	0.005000	0.12908	0.737000	0.42083	-0.697000	0.05098	0.029000	0.15352	0.313000	0.20887	AAG		0.308	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		41	231	1	0	4.17593e-13	1	4.50145e-13	41	231				
ACTG2	72	broad.mit.edu	37	2	74146577	74146577	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74146577C>T	ENST00000409624.1	+	10	1649	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ACTG2_ENST00000409731.3_Missense_Mutation_p.R293W|ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	336					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TCCCCCAGAGCGGAAGTACTC	0.507																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(1006-1008)Cgg>Tgg		actin, gamma 2, smooth muscle, enteric							81.0	85.0	84.0					2																	74146577		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74146577C>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1006C>T	2.37:g.74146577C>T	ENSP00000386857:p.Arg336Trp					ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W|ACTG2_ENST00000409731.3_Missense_Mutation_p.R293W	p.R336W			P63267	ACTH_HUMAN			10	1649	+			336					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.1006C>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924572	0.52653	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.96365	-3.99;-3.99;-3.99	4.95	4.05	0.47172	.	0.400763	0.20589	N	0.089385	D	0.99227	0.9731	H	0.99991	5.33	0.45452	D	0.998427	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.97857	1.0278	10	0.87932	D	0	.	13.8071	0.63238	0.1546:0.8453:0.0:0.0	.	293;336	E9PG30;P63267	.;ACTH_HUMAN	W	293;336;336	ENSP00000386929:R293W;ENSP00000295137:R336W;ENSP00000386857:R336W	ENSP00000295137:R336W	R	+	1	2	ACTG2	74000085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.107000	0.50329	1.395000	0.46643	0.591000	0.81541	CGG		0.507	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		68	397	0	0	0	1	0	68	397				
CCDC108	255101	broad.mit.edu	37	2	219894360	219894360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219894360A>G	ENST00000341552.5	-	11	1498	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000441968.1_Missense_Mutation_p.V472A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	472						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGAAGTTGACACAGTAGTG	0.572											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1414-1416)gTc>gCc		coiled-coil domain containing 108							98.0	92.0	94.0					2																	219894360		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219894360A>G	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1415T>C	2.37:g.219894360A>G	ENSP00000340776:p.Val472Ala		OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2262	CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A|CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000441968.1_Missense_Mutation_p.V472A	p.V472A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1498	-		Renal(207;0.0915)	472					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.1415T>C	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412452	0.42817	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.09817	3.23;3.23;3.23;2.94;2.95	5.18	5.18	0.71444	.	0.348102	0.20722	N	0.086883	T	0.26376	0.0644	M	0.74881	2.28	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.53035	0.716;0.716	T	0.01757	-1.1280	10	0.66056	D	0.02	-18.9174	15.1942	0.73071	1.0:0.0:0.0:0.0	.	461;472	E9PG25;Q6ZU64	.;CC108_HUMAN	A	472;472;472;461;407;406	ENSP00000340776:V472A;ENSP00000413377:V472A;ENSP00000409117:V472A;ENSP00000386945:V461A;ENSP00000386258:V407A	ENSP00000340776:V472A	V	-	2	0	CCDC108	219602604	0.884000	0.30299	0.296000	0.24974	0.007000	0.05969	6.267000	0.72546	2.172000	0.68678	0.533000	0.62120	GTC		0.572	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		13	510	0	0	0	1	0	13	510				
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(895-897)Gta>Ata		CD163 molecule-like 1							319.0	245.0	270.0					12																	7559320		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559320C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.895G>A	12.37:g.7559320C>T	ENSP00000315945:p.Val299Ile					CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I|CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I	p.V299I			Q9NR16	C163B_HUMAN			5	952	-			299			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.895G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446472	0.43429	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.39229	1.09;1.09;1.09	1.75	-1.23	0.09465	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.28001	0.0690	L	0.45581	1.43	0.09310	N	0.99999	P;P	0.40578	0.722;0.722	B;B	0.34038	0.174;0.174	T	0.10497	-1.0627	9	0.39692	T	0.17	.	5.8213	0.18528	0.0:0.5279:0.0:0.4721	.	309;299	E7EVK4;Q9NR16	.;C163B_HUMAN	I	299;309;299	ENSP00000315945:V299I;ENSP00000393474:V309I;ENSP00000379871:V299I	ENSP00000315945:V299I	V	-	1	0	CD163L1	7450587	0.001000	0.12720	0.000000	0.03702	0.356000	0.29392	0.350000	0.20079	-0.408000	0.07565	0.305000	0.20034	GTA		0.522	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		70	403	0	0	0	1	0	70	403				
MDM1	56890	broad.mit.edu	37	12	68707511	68707511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68707511C>T	ENST00000303145.7	-	10	1608	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	MDM1_ENST00000411698.2_Missense_Mutation_p.E473K|MDM1_ENST00000540418.1_Missense_Mutation_p.E228K	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	508					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CCTCCTTTTTCTGAGGATACA	0.403																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(1522-1524)Gaa>Aaa		Mdm1 nuclear protein homolog (mouse)							70.0	76.0	74.0					12																	68707511		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68707511C>T	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1522G>A	12.37:g.68707511C>T	ENSP00000302537:p.Glu508Lys					MDM1_ENST00000411698.2_Missense_Mutation_p.E473K|MDM1_ENST00000540418.1_Missense_Mutation_p.E228K	p.E508K	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	10	1608	-			508					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.1522G>A	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131855	0.37630	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.24723	1.84;1.84;1.84	4.98	4.09	0.47781	.	0.558347	0.17014	N	0.190395	T	0.20941	0.0504	L	0.34521	1.04	0.80722	D	1	B;B	0.27679	0.152;0.185	B;B	0.29785	0.107;0.093	T	0.03555	-1.1025	9	.	.	.	-6.0315	12.8595	0.57906	0.0:0.9204:0.0:0.0796	.	473;508	E7EPQ3;Q8TC05	.;MDM1_HUMAN	K	228;508;473	ENSP00000443815:E228K;ENSP00000302537:E508K;ENSP00000391006:E473K	.	E	-	1	0	MDM1	66993778	0.019000	0.18553	0.931000	0.37212	0.638000	0.38207	0.861000	0.27885	1.238000	0.43771	0.484000	0.47621	GAA		0.403	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		66	249	0	0	0	1	0	66	249				
PYGB	5834	broad.mit.edu	37	20	25255323	25255323	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25255323G>A	ENST00000216962.4	+	5	734	c.624G>A	c.(622-624)gaG>gaA	p.E208E		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	208					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GACGCGTGGAGCACACCCCCG	0.637																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(622-624)gaG>gaA		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						95.0	105.0	102.0					20																	25255323		2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25255323G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.624G>A	20.37:g.25255323G>A							p.E208E	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			5	734	+			208					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.624G>A	CCDS13171.1																																																																																				0.637	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		27	917	0	0	0	1	0	27	917				
CD58	965	broad.mit.edu	37	1	117078761	117078761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117078761G>A	ENST00000369489.5	-	3	520	c.454C>T	c.(454-456)Cga>Tga	p.R152*	CD58_ENST00000457047.2_Nonsense_Mutation_p.R152*|CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	152					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATAAGTCCTCGATGGCTGTTG	0.373																																						ENST00000457047.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(454-456)Cga>Tga		CD58 molecule							106.0	99.0	102.0					1																	117078761		2203	4300	6503	SO:0001587	stop_gained	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078761G>A	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.454C>T	1.37:g.117078761G>A	ENSP00000358501:p.Arg152*					CD58_ENST00000369489.5_Nonsense_Mutation_p.R152*|CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*	p.R152*	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	507	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	152			Ig-like C2-type.		A8K7G5|Q5U053|Q6IB65|Q96KI9	Nonsense_Mutation	SNP	ENST00000369489.5	37	c.454C>T	CCDS888.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235409	0.39498	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	.	.	.	3.36	-6.71	0.01760	.	13.333200	0.00829	N	0.001654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	14.9149	7.5945	0.28039	0.0:0.3752:0.2014:0.4234	.	.	.	.	X	152	.	ENSP00000358499:R152X	R	-	1	2	CD58	116880284	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.392000	0.00241	-1.425000	0.01997	-0.182000	0.12963	CGA		0.373	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		44	170	0	0	0	1	0	44	170				
DENND3	22898	broad.mit.edu	37	8	142146825	142146825	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146825A>C	ENST00000262585.2	+	2	358	c.80A>C	c.(79-81)gAg>gCg	p.E27A	DENND3_ENST00000519811.1_Missense_Mutation_p.E107A|DENND3_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000518347.1_Missense_Mutation_p.E107A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	27	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCGCCAGAGCCTGAGGAT	0.667																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(319-321)gAg>gCg		DENN/MADD domain containing 3							15.0	20.0	18.0					8																	142146825		2200	4297	6497	SO:0001583	missense	22898							g.chr8:142146825A>C	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.80A>C	8.37:g.142146825A>C	ENSP00000262585:p.Glu27Ala					DENND3_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000262585.2_Missense_Mutation_p.E27A|DENND3_ENST00000518347.1_Missense_Mutation_p.E107A	p.E107A			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		2	390	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		27			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.320A>C	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.687|9.687	1.150839|1.150839	0.21371|0.21371	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058|ENST00000518668	T;T;T;T;T;T|.	0.40476|.	1.03;2.96;2.52;1.03;1.03;1.03|.	5.36|5.36	4.19|4.19	0.49359|0.49359	uDENN (1);|.	0.608859|.	0.17752|.	N|.	0.163199|.	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;P;B|.	0.38280|.	0.002;0.003;0.625;0.258|.	B;B;B;B|.	0.34931|.	0.002;0.006;0.192;0.098|.	T|T	0.19712|0.19712	-1.0297|-1.0297	10|5	0.21014|.	T|.	0.42|.	-0.9371|-0.9371	7.0187|7.0187	0.24902|0.24902	0.7747:0.1484:0.0768:0.0|0.7747:0.1484:0.0768:0.0	.|.	107;27;107;107|.	E9PF32;A2RUS2;E5RHH2;E5RIR7|.	.;DEND3_HUMAN;.;.|.	A|S	40;107;27;27;107;107;107|83	ENSP00000430695:E107A;ENSP00000262585:E27A;ENSP00000410594:E27A;ENSP00000428714:E107A;ENSP00000429780:E107A;ENSP00000430786:E107A|.	ENSP00000262585:E27A|.	E|R	+|+	2|3	0|2	DENND3|DENND3	142216007|142216007	0.764000|0.764000	0.28473|0.28473	0.013000|0.013000	0.15412|0.15412	0.003000|0.003000	0.03518|0.03518	1.801000|1.801000	0.38843|0.38843	0.857000|0.857000	0.35407|0.35407	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.667	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		20	77	0	0	0	1	0	20	77				
NAALADL2	254827	broad.mit.edu	37	3	174814871	174814871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:174814871G>A	ENST00000454872.1	+	2	463	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	112						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATTATACACGATCTGCACCA	0.378																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(334-336)cGa>cAa		N-acetylated alpha-linked acidic dipeptidase-like 2							82.0	82.0	82.0					3																	174814871		1868	4104	5972	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814871G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.335G>A	3.37:g.174814871G>A	ENSP00000404705:p.Arg112Gln					NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	p.R112Q	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	463	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	112					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.335G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357573	0.61293	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.49720	0.77;1.26	5.72	5.72	0.89469	.	0.127766	0.34156	N	0.004212	T	0.55242	0.1908	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.92	T	0.51148	-0.8742	10	0.59425	D	0.04	-24.494	13.4601	0.61223	0.0716:0.0:0.9284:0.0	.	95;112	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	Q	95;112	ENSP00000409858:R95Q;ENSP00000404705:R112Q	ENSP00000409858:R95Q	R	+	2	0	NAALADL2	176297565	0.996000	0.38824	0.971000	0.41717	0.897000	0.52465	5.814000	0.69208	2.850000	0.98022	0.650000	0.86243	CGA		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		92	343	0	0	0	1	0	92	343				
TRIM65	201292	broad.mit.edu	37	17	73888881	73888881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73888881G>A	ENST00000269383.3	-	2	530	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	155						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGCCTTCGGCCTGGGTGG	0.657																																						ENST00000269383.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(463-465)gcC>gcT		tripartite motif containing 65							47.0	42.0	43.0					17																	73888881		2203	4300	6503	SO:0001819	synonymous_variant	201292					intracellular	zinc ion binding	g.chr17:73888881G>A	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.465C>T	17.37:g.73888881G>A							p.A155A	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	530	-			155					Q4G0F0|Q6DKJ6|Q9BRP6	Silent	SNP	ENST00000269383.3	37	c.465C>T	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.465|0.465	-0.887240|-0.887240	0.02511|0.02511	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000543309|ENST00000540128	.|.	.|.	.|.	4.74|4.74	-9.49|-9.49	0.00587|0.00587	.|.	.|.	.|.	.|.	.|.	T|.	0.17534|.	0.0421|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14559|.	-1.0468|.	4|.	.|.	.|.	.|.	.|.	4.94|4.94	0.13960|0.13960	0.5911:0.1913:0.1173:0.1003|0.5911:0.1913:0.1173:0.1003	.|.	.|.	.|.	.|.	L|X	29|147	.|.	.|.	P|R	-|-	2|1	0|2	TRIM65|TRIM65	71400476|71400476	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.938000|-2.938000	0.00684|0.00684	-2.416000|-2.416000	0.00567|0.00567	0.556000|0.556000	0.70494|0.70494	CCG|CGA		0.657	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		32	143	0	0	0	1	0	32	143				
EFCAB6	64800	broad.mit.edu	37	22	44074024	44074024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44074024G>A	ENST00000262726.7	-	13	1524	c.1271C>T	c.(1270-1272)aCa>aTa	p.T424I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I|EFCAB6_ENST00000358439.4_3'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	424	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCTTCTCTTGTTATCGGTCC	0.343																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1270-1272)aCa>aTa		EF-hand calcium binding domain 6							84.0	83.0	83.0					22																	44074024		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44074024G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1271C>T	22.37:g.44074024G>A	ENSP00000262726:p.Thr424Ile					EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I|EFCAB6_ENST00000358439.4_3'UTR	p.T424I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			13	1524	-		Ovarian(80;0.0247)|all_neural(38;0.025)	424			EF-hand 4.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1271C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552644	0.45487	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.86030	-2.06;-2.06	4.96	1.56	0.23342	EF-hand-like domain (1);	0.232653	0.32901	N	0.005510	D	0.89815	0.6824	M	0.87547	2.89	0.09310	N	1	P	0.49090	0.919	P	0.57371	0.819	T	0.81697	-0.0815	10	0.54805	T	0.06	-8.9726	7.7694	0.28999	0.0:0.1602:0.5085:0.3313	.	424	Q5THR3	EFCB6_HUMAN	I	272;424	ENSP00000379533:T272I;ENSP00000262726:T424I	ENSP00000262726:T424I	T	-	2	0	EFCAB6	42405357	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.779000	0.26746	0.320000	0.23234	0.650000	0.86243	ACA		0.343	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		55	215	0	0	0	1	0	55	215				
ZNF835	90485	broad.mit.edu	37	19	57175850	57175850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175850C>T	ENST00000537055.2	-	2	948	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCGCTGGTGCTCTATCAGGG	0.687																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(715-717)gaG>gaA		zinc finger protein 835							37.0	36.0	37.0					19																	57175850		2203	4300	6503	SO:0001819	synonymous_variant	90485							g.chr19:57175850C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.717G>A	19.37:g.57175850C>T							p.E239E	NM_001005850.2	NP_001005850.2					2	948	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.717G>A	CCDS56105.1																																																																																				0.687	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		38	162	0	0	0	1	0	38	162				
KCNK10	54207	broad.mit.edu	37	14	88654372	88654372	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88654372G>A	ENST00000340700.5	-	6	1386	c.935C>T	c.(934-936)gCa>gTa	p.A312V	KCNK10_ENST00000312350.5_Missense_Mutation_p.A317V|KCNK10_ENST00000319231.5_Missense_Mutation_p.A317V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	312					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGGACAGCTGCAAAGTAGGC	0.473																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(934-936)gCa>gTa		potassium channel, subfamily K, member 10							155.0	152.0	153.0					14																	88654372		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88654372G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.935C>T	14.37:g.88654372G>A	ENSP00000343104:p.Ala312Val					KCNK10_ENST00000319231.5_Missense_Mutation_p.A317V|KCNK10_ENST00000312350.5_Missense_Mutation_p.A317V	p.A312V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			6	1386	-			312					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.935C>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411462	0.96072	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.32023	1.47;1.47;1.47	5.82	5.82	0.92795	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.97110	1.0;1.0;0.954	T	0.50882	-0.8775	10	0.45353	T	0.12	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	312;317;317	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	V	312;317;317	ENSP00000343104:A312V;ENSP00000310568:A317V;ENSP00000312811:A317V	ENSP00000310568:A317V	A	-	2	0	KCNK10	87724125	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.837000	0.99465	2.756000	0.94617	0.561000	0.74099	GCA		0.473	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		11	565	0	0	0	1	0	11	565				
EEF1G	1937	broad.mit.edu	37	11	62334931	62334931	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62334931G>T	ENST00000329251.4	-	6	722	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.P248T	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	198	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGAACTGGGGCTGGTTAATG	0.537																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(742-744)Ccc>Acc		eukaryotic translation elongation factor 1 gamma							43.0	40.0	41.0					11																	62334931		1904	4117	6021	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62334931G>T	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.592C>A	11.37:g.62334931G>T	ENSP00000331901:p.Pro198Thr					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.P198T	p.P248T			P26641	EF1G_HUMAN			6	832	-			198					B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.742C>A	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719014	0.89205	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.34667	1.35;1.35	4.8	4.8	0.61643	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.93898	3.47	0.80722	D	1	D;P	0.60575	0.988;0.868	D;P	0.65573	0.936;0.817	T	0.77629	-0.2516	10	0.66056	D	0.02	.	15.7129	0.77644	0.0:0.0:1.0:0.0	.	248;198	B4DTG2;P26641	.;EF1G_HUMAN	T	198;248	ENSP00000331901:P198T;ENSP00000367258:P248T	ENSP00000331901:P198T	P	-	1	0	EEF1G	62091507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.392000	0.97252	2.380000	0.81148	0.561000	0.74099	CCC		0.537	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		20	71	1	0	2.39187e-15	1	2.61288e-15	20	71				
ZBTB44	29068	broad.mit.edu	37	11	130106855	130106855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130106855G>A	ENST00000357899.4	-	5	1673	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZBTB44_ENST00000530205.1_Intron|ZBTB44_ENST00000525842.1_Intron|ZBTB44_ENST00000397753.1_Silent_p.F467F			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TATATTCCCCGAAGGAAGTGA	0.483																																						ENST00000397753.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1399-1401)ttC>ttT		zinc finger and BTB domain containing 44							54.0	54.0	54.0					11																	130106855		1981	4164	6145	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130106855G>A	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1401C>T	11.37:g.130106855G>A						ZBTB44_ENST00000357899.4_Silent_p.F467F|ZBTB44_ENST00000530205.1_Intron|ZBTB44_ENST00000525842.1_Intron	p.F467F			Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	5	1694	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	467					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.1401C>T		.	.	.	.	.	.	.	.	.	.	G	9.352	1.065764	0.20067	.	.	ENSG00000196323	ENST00000527478	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.75606	0.3872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73313	-0.4022	4	.	.	.	.	19.6651	0.95890	0.0:0.0:1.0:0.0	.	.	.	.	W	446	.	.	R	-	1	2	ZBTB44	129612065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.722000	0.93159	0.650000	0.86243	CGG		0.483	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		33	107	0	0	0	1	0	33	107				
OR2M5	127059	broad.mit.edu	37	1	248308961	248308961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308961C>A	ENST00000366476.1	+	1	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TACTGTGGGTCTCGGGAAATA	0.438																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(511-513)tCt>tAt		olfactory receptor, family 2, subfamily M, member 5							282.0	266.0	271.0					1																	248308961		2203	4298	6501	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308961C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.512C>A	1.37:g.248308961C>A	ENSP00000355432:p.Ser171Tyr						p.S171Y	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	512	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		171						Missense_Mutation	SNP	ENST00000366476.1	37	c.512C>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	19.29	3.799247	0.70567	.	.	ENSG00000162727	ENST00000366476	T	0.38722	1.12	3.28	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.879412	0.09254	U	0.827497	T	0.69160	0.3080	M	0.92691	3.335	0.09310	N	1	D	0.53312	0.959	P	0.62649	0.905	T	0.55134	-0.8188	10	0.87932	D	0	.	10.0254	0.42068	0.0:0.8936:0.0:0.1064	.	171	A3KFT3	OR2M5_HUMAN	Y	171	ENSP00000355432:S171Y	ENSP00000355432:S171Y	S	+	2	0	OR2M5	246375584	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	1.011000	0.29911	0.476000	0.27440	0.492000	0.49549	TCT		0.438	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		241	1529	1	0	7.79638e-53	1	9.70434e-53	241	1529				
MFSD2B	388931	broad.mit.edu	37	2	24239805	24239805	+	Silent	SNP	G	G	A	rs554518996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239805G>A	ENST00000406420.3	+	4	454	c.438G>A	c.(436-438)acG>acA	p.T146T	MFSD2B_ENST00000338315.4_Silent_p.T146T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	146					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCTGGTACACGACTTTCTACT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.001		0.0	False		,,,				2504	0.0					ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(436-438)acG>acA		major facilitator superfamily domain containing 2B							66.0	71.0	70.0					2																	24239805		2024	4170	6194	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24239805G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.438G>A	2.37:g.24239805G>A						MFSD2B_ENST00000406420.3_Silent_p.T146T	p.T146T			A6NFX1	MFS2B_HUMAN			4	438	+			146					B5MC32	Silent	SNP	ENST00000406420.3	37	c.438G>A	CCDS46228.1																																																																																				0.647	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		55	311	0	0	0	1	0	55	311				
VIL1	7429	broad.mit.edu	37	2	219295496	219295496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219295496C>T	ENST00000248444.5	+	10	1085	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*|VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	333	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAGGTGCAGAATGATGG	0.577																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(997-999)Cag>Tag		villin 1							84.0	76.0	79.0					2																	219295496		2203	4300	6503	SO:0001587	stop_gained	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219295496C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.997C>T	2.37:g.219295496C>T	ENSP00000248444:p.Gln333*					VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*	p.Q333*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1085	+		Renal(207;0.0474)	333			Core.		B2R9A7|Q53S11|Q96AC8	Nonsense_Mutation	SNP	ENST00000248444.5	37	c.997C>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401785	0.62288	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000440053	.	.	.	4.13	4.13	0.48395	.	0.173549	0.36303	N	0.002661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.7601	11.3415	0.49535	0.0:0.6425:0.3575:0.0	.	.	.	.	X	333;22;333	.	ENSP00000248444:Q333X	Q	+	1	0	VIL1	219003740	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.972000	0.49256	2.154000	0.67381	0.462000	0.41574	CAG		0.577	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		20	336	0	0	0	1	0	20	336				
MRE11A	4361	broad.mit.edu	37	11	94192582	94192582	+	Missense_Mutation	SNP	C	C	T	rs564511708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94192582C>T	ENST00000323929.3	-	13	1714	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N|MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	498					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACCTCCTCATCGATTTTGTCT	0.358								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				C|||	1	0.000199681	0.0008	0.0	5008	,	,		17938	0.0		0.0	False		,,,				2504	0.0					ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1492-1494)Gat>Aat	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							155.0	148.0	150.0					11																	94192582		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94192582C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1492G>A	11.37:g.94192582C>T	ENSP00000325863:p.Asp498Asn					MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N|MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N	p.D498N	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			13	1714	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	498					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1492G>A	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273580	0.59649	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.75821	-0.97;-0.97;-0.95;-0.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.61703	1.905	0.80722	D	1	B;B;B	0.21753	0.06;0.058;0.06	B;B;B	0.19148	0.016;0.024;0.022	T	0.67608	-0.5627	10	0.30854	T	0.27	-27.8191	20.0493	0.97618	0.0:1.0:0.0:0.0	.	501;498;498	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	N	498;501;498;498	ENSP00000325863:D498N;ENSP00000385614:D501N;ENSP00000326094:D498N;ENSP00000376933:D498N	ENSP00000325863:D498N	D	-	1	0	MRE11A	93832230	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	7.695000	0.84257	2.745000	0.94114	0.491000	0.48974	GAT		0.358	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		60	309	0	0	0	1	0	60	309				
PDXDC1	23042	broad.mit.edu	37	16	15116568	15116568	+	Missense_Mutation	SNP	G	G	A	rs568115955		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15116568G>A	ENST00000396410.4	+	13	1194	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGAGTCAACGGTTGCAGGAA	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		30426	0.0		0.0	False		,,,				2504	0.0					ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)cGg>cAg		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						150.0	133.0	139.0					16																	15116568		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15116568G>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1097G>A	16.37:g.15116568G>A	ENSP00000379691:p.Arg366Gln					PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q	p.R366Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			13	1194	+			366					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.1097G>A	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411756	0.25465	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	4.96	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175291	0.49916	D	0.000131	T	0.29061	0.0722	L	0.32530	0.975	0.31088	N	0.711142	B;B;B;B;B;B	0.20052	0.004;0.004;0.014;0.004;0.004;0.041	B;B;B;B;B;B	0.11329	0.002;0.003;0.003;0.003;0.002;0.006	T	0.21621	-1.0240	10	0.26408	T	0.33	-20.2729	9.0978	0.36649	0.167:0.0:0.833:0.0	.	338;275;366;338;366;343	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	Q	351;275;366;366;338;72;343	ENSP00000322807:R351Q;ENSP00000400310:R275Q;ENSP00000437835:R366Q;ENSP00000379691:R366Q;ENSP00000391147:R338Q;ENSP00000406703:R343Q	ENSP00000322807:R351Q	R	+	2	0	PDXDC1	15024069	0.987000	0.35691	0.119000	0.21687	0.970000	0.65996	3.786000	0.55431	1.094000	0.41399	-0.350000	0.07774	CGG		0.373	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		23	273	0	0	0	1	0	23	273				
ANAPC2	29882	broad.mit.edu	37	9	140069809	140069809	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069809G>T	ENST00000323927.2	-	12	2140	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	TMEM210_ENST00000413619.2_5'Flank|ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	712					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGACAGAGAAGGTGCCGGGGG	0.662																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(2134-2136)acC>acA		anaphase promoting complex subunit 2							31.0	30.0	30.0					9																	140069809		2195	4296	6491	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140069809G>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2136C>A	9.37:g.140069809G>T						ANAPC2_ENST00000487917.1_5'UTR	p.T712T	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	12	2140	-	all_cancers(76;0.0926)		712					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.2136C>A	CCDS7033.1																																																																																				0.662	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		27	136	1	0	1.12875e-08	1	1.18168e-08	27	136				
CAPRIN2	65981	broad.mit.edu	37	12	30873798	30873798	+	Missense_Mutation	SNP	C	C	T	rs371879635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30873798C>T	ENST00000298892.5	-	12	2845	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.D699N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000395805.2_Intron	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGCCTGATCGGTAGTAACC	0.368																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2095-2097)Gat>Aat		caprin family member 2		C	ASN/ASP,ASN/ASP,ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	98.0	102.0	100.0		2095,2095,2095,	4.5	0.7	12		100	0,8600		0,0,4300	no	missense,missense,missense,intron	CAPRIN2	NM_001002259.1,NM_023925.3,NM_032156.3,NM_001206856.1	23,23,23,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,	699/1128,699/1078,699/961,	30873798	1,13005	2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30873798C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2095G>A	12.37:g.30873798C>T	ENSP00000298892:p.Asp699Asn					CAPRIN2_ENST00000298892.5_Missense_Mutation_p.D699N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000395805.2_Intron	p.D699N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			12	2845	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		699						Missense_Mutation	SNP	ENST00000298892.5	37	c.2095G>A	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231118	0.79688	2.27E-4	0.0	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.21734	1.99;2.0;1.99;1.99;1.99;1.99	5.35	4.46	0.54185	.	0.353866	0.30969	N	0.008504	T	0.31451	0.0797	L	0.47716	1.5	0.33215	D	0.553909	D;P;P;D	0.76494	0.999;0.926;0.947;0.984	P;B;B;P	0.56788	0.806;0.324;0.294;0.634	T	0.45425	-0.9262	10	0.51188	T	0.08	-6.765	11.2924	0.49258	0.0:0.9158:0.0:0.0842	.	699;699;699;699	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	N	445;699;699;366;699;618	ENSP00000415407:D445N;ENSP00000298892:D699N;ENSP00000251071:D699N;ENSP00000309785:D366N;ENSP00000391479:D699N;ENSP00000438010:D618N	ENSP00000251071:D699N	D	-	1	0	CAPRIN2	30765065	0.992000	0.36948	0.727000	0.30756	0.985000	0.73830	3.019000	0.49635	1.247000	0.43917	0.591000	0.81541	GAT		0.368	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		63	345	0	0	0	1	0	63	345				
C18orf25	147339	broad.mit.edu	37	18	43842923	43842923	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43842923A>T	ENST00000282059.6	+	5	1428	c.1054A>T	c.(1054-1056)Agt>Tgt	p.S352C	C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	352										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTGATTCAGAGTGTTTCTTC	0.483																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(1054-1056)Agt>Tgt		chromosome 18 open reading frame 25							175.0	155.0	162.0					18																	43842923		2026	4195	6221	SO:0001583	missense	147339							g.chr18:43842923A>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.1054A>T	18.37:g.43842923A>T	ENSP00000282059:p.Ser352Cys					C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	p.S352C	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			5	1428	+			352					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.1054A>T	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986319	0.74589	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	T	0.78630	-0.2129	9	0.87932	D	0	-7.6025	14.9214	0.70841	1.0:0.0:0.0:0.0	.	291;352	Q96B23-2;Q96B23	.;CR025_HUMAN	C	352;291	.	ENSP00000282059:S352C	S	+	1	0	C18orf25	42096921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.584000	0.82572	1.920000	0.55613	0.460000	0.39030	AGT		0.483	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		65	349	0	0	0	1	0	65	349				
SCLY	51540	broad.mit.edu	37	2	238990750	238990750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990750C>A	ENST00000555827.1	+	6	741	c.677C>A	c.(676-678)cCt>cAt	p.P226H	SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000254663.6_Missense_Mutation_p.P234H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H|SCLY_ENST00000373332.3_Missense_Mutation_p.P144H			Q96I15	SCLY_HUMAN	selenocysteine lyase	226					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GCTGGGCTACCTCCCATCCTC	0.587																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(700-702)cCt>cAt		selenocysteine lyase							109.0	98.0	102.0					2																	238990750		2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238990750C>A	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.677C>A	2.37:g.238990750C>A	ENSP00000450613:p.Pro226His					SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H|SCLY_ENST00000373332.3_Missense_Mutation_p.P144H|SCLY_ENST00000555827.1_Missense_Mutation_p.P226H	p.P234H	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	6	843	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	226					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.701C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.355000|2.355000	0.41700|0.41700	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000431487|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;T;T;T;T	.|0.32988	.|1.85;1.85;1.43;1.44;1.87;1.85;1.48	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58595|0.58595	0.2133|0.2133	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.99	.|D;D;D	.|0.76575	.|0.983;0.988;0.94	T|T	0.61964|0.61964	-0.6954|-0.6954	5|10	.|0.62326	.|D	.|0.03	-14.5538|-14.5538	17.9223|17.9223	0.88970|0.88970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|132;226;226	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	I|H	72|234;226;144;140;226;132;56	.|ENSP00000254663:P234H;ENSP00000450613:P226H;ENSP00000362429:P144H;ENSP00000414165:P140H;ENSP00000387162:P226H;ENSP00000416865:P132H;ENSP00000414053:P56H	.|ENSP00000254663:P226H	L|P	+|+	1|2	0|0	SCLY|SCLY	238655489|238655489	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.017000|0.017000	0.09413|0.09413	5.615000|5.615000	0.67702|0.67702	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.587	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		88	422	1	0	6.71967e-41	1	8.15689e-41	88	422				
ZC3H18	124245	broad.mit.edu	37	16	88643861	88643861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643861C>T	ENST00000301011.5	+	2	530	c.330C>T	c.(328-330)agC>agT	p.S110S	ZC3H18_ENST00000452588.2_Silent_p.S110S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	110						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACCGGACAAGCGACCTTAGGG	0.632																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(328-330)agC>agT		zinc finger CCCH-type containing 18							47.0	47.0	47.0					16																	88643861		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643861C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.330C>T	16.37:g.88643861C>T						ZC3H18_ENST00000452588.2_Silent_p.S110S	p.S110S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	530	+			110					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.330C>T	CCDS10967.1																																																																																				0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		7	158	0	0	0	1	0	7	158				
NR2C2	7182	broad.mit.edu	37	3	15070094	15070094	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15070094C>A	ENST00000425241.1	+	8	1162	c.800C>A	c.(799-801)gCt>gAt	p.A267D	NR2C2_ENST00000393102.3_Splice_Site_p.A267D|NR2C2_ENST00000406272.2_Splice_Site_p.A267D|NR2C2_ENST00000323373.6_Splice_Site_p.A286D|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	267					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|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)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTAATAGGCTGAAACAAGC	0.423																																						ENST00000425241.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.e8-1		nuclear receptor subfamily 2, group C, member 2							65.0	60.0	62.0					3																	15070094		2203	4300	6503	SO:0001630	splice_region_variant	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15070094C>A	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.799-1C>A	3.37:g.15070094C>A						NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000323373.6_Splice_Site_p.A286_splice|NR2C2_ENST00000406272.2_Splice_Site_p.A267_splice|NR2C2_ENST00000393102.3_Splice_Site_p.A267_splice	p.A267_splice			P49116	NR2C2_HUMAN			8	1162	+			267					A8K3H5|B6ZGT8|P55092	Splice_Site	SNP	ENST00000425241.1	37	c.798_splice		.	.	.	.	.	.	.	.	.	.	C	15.27	2.783963	0.49891	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.095622	0.85682	D	0.000000	D	0.89663	0.6780	L	0.27053	0.805	0.37836	D	0.928884	B;P	0.40476	0.004;0.718	B;B	0.39299	0.005;0.296	D	0.89087	0.3480	10	0.28530	T	0.3	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	267;286	P49116;F2YGU2	NR2C2_HUMAN;.	D	267;286;267;267	ENSP00000388387:A267D;ENSP00000320447:A286D;ENSP00000376814:A267D;ENSP00000384463:A267D	ENSP00000320447:A286D	A	+	2	0	NR2C2	15045098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.273000	0.43381	2.746000	0.94184	0.591000	0.81541	GCT		0.423	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	Missense_Mutation	8	108	1	0	7.48243e-07	1	7.73841e-07	8	108				
PNISR	25957	broad.mit.edu	37	6	99853919	99853919	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99853919T>G	ENST00000369239.5	-	8	1194	c.990A>C	c.(988-990)aaA>aaC	p.K330N	PNISR_ENST00000438806.1_Missense_Mutation_p.K330N	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	330						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTGATACTCTTTCTCCTCTT	0.383																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(988-990)aaA>aaC		PNN-interacting serine/arginine-rich protein							203.0	181.0	188.0					6																	99853919		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99853919T>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.990A>C	6.37:g.99853919T>G	ENSP00000358242:p.Lys330Asn					PNISR_ENST00000438806.1_Missense_Mutation_p.K330N	p.K330N	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			8	1194	-			330					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.990A>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475283	0.63737	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.50548	0.74;0.74	5.68	0.679	0.17975	.	0.091899	0.64402	D	0.000001	T	0.23926	0.0579	L	0.50333	1.59	0.52099	D	0.999942	P	0.48503	0.911	B	0.42087	0.375	T	0.03268	-1.1054	10	0.44086	T	0.13	.	8.7921	0.34857	0.0:0.5522:0.0:0.4478	.	330	Q8TF01	PNISR_HUMAN	N	330	ENSP00000358242:K330N;ENSP00000387997:K330N	ENSP00000358242:K330N	K	-	3	2	PNISR	99960640	0.986000	0.35501	1.000000	0.80357	0.866000	0.49608	0.083000	0.14871	0.167000	0.19631	-0.290000	0.09829	AAA		0.383	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		45	267	0	0	0	1	0	45	267				
WFS1	7466	broad.mit.edu	37	4	6303932	6303932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303932C>A	ENST00000226760.1	+	8	2580	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M	WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	804					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACATCGTGCTGCGGGCCAG	0.652																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2410-2412)Ctg>Atg		Wolfram syndrome 1 (wolframin)							39.0	42.0	41.0					4																	6303932		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303932C>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2410C>A	4.37:g.6303932C>A	ENSP00000226760:p.Leu804Met					WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2580	+			804					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2410C>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663252	0.67700	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.95342	-3.68;-3.68	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.95655	0.8587	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.96219	0.9159	10	0.72032	D	0.01	-23.9621	18.573	0.91144	0.0:1.0:0.0:0.0	.	804	O76024	WFS1_HUMAN	M	804;804;182	ENSP00000423337:L804M;ENSP00000226760:L804M	ENSP00000226760:L804M	L	+	1	2	WFS1	6354833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.248000	0.43160	2.636000	0.89361	0.561000	0.74099	CTG		0.652	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			54	245	1	0	9.45407e-15	1	1.02924e-14	54	245				
STK25	10494	broad.mit.edu	37	2	242438508	242438508	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242438508C>T	ENST00000316586.4	-	7	1016	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Missense_Mutation_p.V146I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGGAACAGGACGCGCATGGGG	0.612																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(667-669)Gtc>Atc		serine/threonine kinase 25							70.0	78.0	76.0					2																	242438508		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242438508C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.667G>A	2.37:g.242438508C>T	ENSP00000325748:p.Val223Ile					STK25_ENST00000478403.1_5'UTR|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I|STK25_ENST00000405585.1_Missense_Mutation_p.V146I	p.V223I	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	7	1016	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	223			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.667G>A	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987877	0.74589	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	N	0.10629	0.01	0.80722	D	1	D;D;D;D	0.71674	0.998;0.979;0.979;0.998	D;D;D;D	0.69824	0.966;0.934;0.935;0.935	T	0.73487	-0.3967	10	0.87932	D	0	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	149;146;223;129	B4DVS7;A8K6Z3;O00506;B4E185	.;.;STK25_HUMAN;.	I	223;223;223;146;129;146;129;129;129;127;129;129	ENSP00000325748:V223I;ENSP00000384162:V223I;ENSP00000385687:V223I;ENSP00000384444:V146I;ENSP00000385541:V146I;ENSP00000444886:V129I;ENSP00000446008:V129I;ENSP00000399212:V129I;ENSP00000417020:V127I;ENSP00000403607:V129I;ENSP00000395104:V129I	ENSP00000325748:V223I	V	-	1	0	STK25	242087181	1.000000	0.71417	0.624000	0.29186	0.046000	0.14306	7.583000	0.82559	2.637000	0.89404	0.655000	0.94253	GTC		0.612	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		82	270	0	0	0	1	0	82	270				
DSCAM	1826	broad.mit.edu	37	21	41457658	41457658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41457658G>A	ENST00000400454.1	-	23	4480	c.4003C>T	c.(4003-4005)Cgg>Tgg	p.R1335W		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGCTCCTCCGCCCATCAATC	0.458																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4003-4005)Cgg>Tgg		Down syndrome cell adhesion molecule							87.0	80.0	82.0					21																	41457658		1884	4124	6008	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41457658G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4003C>T	21.37:g.41457658G>A	ENSP00000383303:p.Arg1335Trp						p.R1335W	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			23	4480	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1335			Ig-like C2-type 10.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4003C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159064	0.94686	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.80286	-0.1446	10	0.62326	D	0.03	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1335	O60469	DSCAM_HUMAN	W	1335;1087	ENSP00000383303:R1335W;ENSP00000385342:R1087W	ENSP00000383303:R1335W	R	-	1	2	DSCAM	40379528	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.550000	0.60733	2.581000	0.87130	0.655000	0.94253	CGG		0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		36	293	0	0	0	1	0	36	293				
DAXX	1616	broad.mit.edu	37	6	33288802	33288802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288802G>A	ENST00000374542.5	-	3	954	c.750C>T	c.(748-750)ggC>ggT	p.G250G	DAXX_ENST00000266000.6_Silent_p.G250G|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.G175G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	250	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTATGACACGGCCGGTCAGTG	0.587			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(748-750)ggC>ggT		death-domain associated protein							72.0	66.0	68.0					6																	33288802		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288802G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.750C>T	6.37:g.33288802G>A						DAXX_ENST00000414083.2_Silent_p.G175G|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Silent_p.G250G	p.G250G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	954	-			250					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.750C>T	CCDS4776.1																																																																																				0.587	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			71	341	0	0	0	1	0	71	341				
KCNG3	170850	broad.mit.edu	37	2	42720251	42720251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720251C>T	ENST00000306078.1	-	1	986	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	131					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						ACGCCCGGCTCGTCGGCCGAG	0.736																																						ENST00000306078.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.(391-393)Gag>Aag		potassium voltage-gated channel, subfamily G, member 3							5.0	6.0	6.0					2																	42720251		1757	3694	5451	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42720251C>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.391G>A	2.37:g.42720251C>T	ENSP00000304127:p.Glu131Lys					KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K	p.E131K	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN			1	986	-			131					Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.391G>A	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929283	0.52759	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.97553	-4.32;-4.43	3.95	3.95	0.45737	.	0.481267	0.20652	N	0.088195	D	0.92368	0.7578	L	0.42245	1.32	0.53688	D	0.999971	P;P	0.40398	0.716;0.628	B;B	0.25759	0.041;0.063	D	0.91555	0.5260	10	0.42905	T	0.14	.	9.9485	0.41626	0.0:0.9055:0.0:0.0945	.	131;131	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	K	131	ENSP00000304127:E131K;ENSP00000378424:E131K	ENSP00000304127:E131K	E	-	1	0	KCNG3	42573755	0.999000	0.42202	0.830000	0.32933	0.594000	0.36715	4.229000	0.58625	2.024000	0.59613	0.462000	0.41574	GAG		0.736	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		16	77	0	0	0	1	0	16	77				
DIXDC1	85458	broad.mit.edu	37	11	111866170	111866170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866170G>A	ENST00000440460.2	+	17	1865	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	524					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CGCAGCCTGCGCAACAGCTTC	0.572																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(1567-1569)cGc>cAc		DIX domain containing 1							68.0	71.0	70.0					11																	111866170		2131	4234	6365	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111866170G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1568G>A	11.37:g.111866170G>A	ENSP00000394352:p.Arg523His					DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H|DIXDC1_ENST00000389821.4_3'UTR	p.R523H	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	17	1865	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	524					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.706164	0.96812	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.25749	1.78;1.78	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.54702	-0.8254	9	0.52906	T	0.07	-37.8064	19.8479	0.96722	0.0:0.0:1.0:0.0	.	189;312;524	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	H	523;312	ENSP00000394352:R523H;ENSP00000314068:R312H	ENSP00000314068:R312H	R	+	2	0	DIXDC1	111371380	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.205000	0.95048	2.681000	0.91329	0.655000	0.94253	CGC		0.572	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		53	271	0	0	0	1	0	53	271				
KIF13B	23303	broad.mit.edu	37	8	29033584	29033584	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29033584C>T	ENST00000524189.1	-	10	984		c.e10+1		KIF13B_ENST00000521515.1_Splice_Site	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B						metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACAAACTTACTTTGAGCAGC	0.413																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.e10+1		kinesin family member 13B							71.0	64.0	66.0					8																	29033584		1876	4100	5976	SO:0001630	splice_region_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29033584C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.945+1G>A	8.37:g.29033584C>T						KIF13B_ENST00000521515.1_Splice_Site		NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	10	984	-		Ovarian(32;0.000536)						B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Splice_Site	SNP	ENST00000524189.1	37		CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858644	0.91433	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF13B	29089503	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.588000	0.82629	2.763000	0.94921	0.563000	0.77884	.		0.413	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		Intron	6	90	0	0	0	1	0	6	90				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	4	86	0	0	0	1	0	4	86				
AVIL	10677	broad.mit.edu	37	12	58197168	58197168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58197168C>A	ENST00000257861.3	-	15	2254	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	AVIL_ENST00000537081.1_Missense_Mutation_p.Q601H|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	608	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATTTCCTGCTGAAGTCTGC	0.438											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1801-1803)caG>caT		advillin							161.0	149.0	153.0					12																	58197168		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58197168C>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1824G>T	12.37:g.58197168C>A	ENSP00000257861:p.Gln608His		OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000257861.3_Missense_Mutation_p.Q608H|TSFM_ENST00000548851.1_Intron	p.Q601H			O75366	AVIL_HUMAN			15	1802	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		608			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1803G>T	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941317	0.34283	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.42900	0.96;0.96	5.13	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.88031	2.925	0.47737	D	0.999508	D;D	0.67145	0.989;0.996	D;D	0.65233	0.914;0.933	T	0.66333	-0.5950	10	0.66056	D	0.02	-12.0731	7.8909	0.29677	0.0:0.6981:0.1633:0.1386	.	601;608	O75366-2;O75366	.;AVIL_HUMAN	H	601;608	ENSP00000443207:Q601H;ENSP00000257861:Q608H	ENSP00000257861:Q608H	Q	-	3	2	AVIL	56483435	1.000000	0.71417	0.992000	0.48379	0.001000	0.01503	3.164000	0.50770	1.123000	0.41961	-0.305000	0.09177	CAG		0.438	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		26	793	1	0	3.65163e-15	1	3.98403e-15	26	793				
FRY	10129	broad.mit.edu	37	13	32745307	32745307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745307C>T	ENST00000380250.3	+	18	2547	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	684						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCCTTGATTCGTCCCTGAAG	0.438																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2050-2052)tCg>tTg		furry homolog (Drosophila)							104.0	99.0	101.0					13																	32745307		1982	4190	6172	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32745307C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2051C>T	13.37:g.32745307C>T	ENSP00000369600:p.Ser684Leu						p.S684L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	18	2547	+		Lung SC(185;0.0271)	684					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.2051C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040804	0.75732	.	.	ENSG00000073910	ENST00000380250	T	0.65549	-0.16	6.07	5.18	0.71444	.	0.254141	0.38381	N	0.001719	T	0.61578	0.2358	L	0.59436	1.845	0.80722	D	1	B	0.32507	0.373	B	0.35859	0.212	T	0.58482	-0.7629	10	0.31617	T	0.26	.	16.8863	0.86077	0.0:0.8721:0.1279:0.0	.	684	Q5TBA9	FRY_HUMAN	L	684	ENSP00000369600:S684L	ENSP00000369600:S684L	S	+	2	0	FRY	31643307	0.871000	0.30034	0.523000	0.27875	0.957000	0.61999	4.474000	0.60203	2.890000	0.99128	0.650000	0.86243	TCG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		52	329	0	0	0	1	0	52	329				
OR8B8	26493	broad.mit.edu	37	11	124310687	124310687	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124310687T>G	ENST00000328064.2	-	1	367	c.295A>C	c.(295-297)Act>Cct	p.T99P		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	99					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGAGCTGAGTCATACACCCT	0.438																																						ENST00000328064.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(295-297)Act>Cct		olfactory receptor, family 8, subfamily B, member 8							94.0	92.0	92.0					11																	124310687		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310687T>G	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.295A>C	11.37:g.124310687T>G	ENSP00000330280:p.Thr99Pro						p.T99P	NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	367	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	99					A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.295A>C	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106168	0.56291	.	.	ENSG00000197125	ENST00000328064	T	0.08896	3.04	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.138563	0.33346	N	0.005003	T	0.28665	0.0710	M	0.94142	3.5	0.31201	N	0.699808	D	0.56746	0.977	P	0.57620	0.824	T	0.43734	-0.9373	10	0.87932	D	0	.	6.2589	0.20889	0.0:0.1584:0.0:0.8416	.	99	Q15620	OR8B8_HUMAN	P	99	ENSP00000330280:T99P	ENSP00000330280:T99P	T	-	1	0	OR8B8	123815897	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-1.976000	0.01497	1.831000	0.53308	0.455000	0.32223	ACT		0.438	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		29	333	0	0	0	1	0	29	333				
TSC2	7249	broad.mit.edu	37	16	2120560	2120560	+	Missense_Mutation	SNP	C	C	T	rs397515296|rs137854119		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2120560C>T	ENST00000219476.3	+	17	2450	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000568454.1_Missense_Mutation_p.A618V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000353929.4_Missense_Mutation_p.A607V|TSC2_ENST00000439673.2_Missense_Mutation_p.A570V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	607			A -> T. {ECO:0000269|PubMed:15024740}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAATCGCGAGCAGCATC	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56	GRCh37	CM090848	TSC2	M		c.(1819-1821)gCg>gTg		tuberous sclerosis 2		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4396		0,0,2198	68.0	51.0	57.0		1820,1820,1820	5.5	1.0	16		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	64,64,64	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	607/1808,607/1741,607/1785	2120560	1,12995	2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2120560C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1820C>T	16.37:g.2120560C>T	ENSP00000219476:p.Ala607Val					TSC2_ENST00000439673.2_Missense_Mutation_p.A570V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000353929.4_Missense_Mutation_p.A607V|TSC2_ENST00000568454.1_Missense_Mutation_p.A618V	p.A607V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			17	2450	+		Hepatocellular(780;0.0202)	607		A -> T.			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1820C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770716	0.69992	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.51	5.51	0.81932	Tuberin-type domain (1);Armadillo-type fold (1);	0.052861	0.85682	D	0.000000	D	0.89022	0.6597	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.988;0.936;0.981;0.98;0.999;0.995	D	0.86560	0.1840	10	0.27785	T	0.31	-33.4261	19.4153	0.94694	0.0:1.0:0.0:0.0	.	558;570;607;607;607;607	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	V	607;607;607;570;558;607	ENSP00000219476:A607V;ENSP00000384468:A607V;ENSP00000248099:A607V;ENSP00000399232:A570V;ENSP00000371978:A558V;ENSP00000344383:A607V	ENSP00000219476:A607V	A	+	2	0	TSC2	2060561	1.000000	0.71417	0.998000	0.56505	0.610000	0.37248	5.946000	0.70234	2.595000	0.87683	0.561000	0.74099	GCG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		70	286	0	0	0	1	0	70	286				
CLEC16A	23274	broad.mit.edu	37	16	11066877	11066877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11066877C>T	ENST00000409790.1	+	7	917	c.687C>T	c.(685-687)agC>agT	p.S229S	CLEC16A_ENST00000409552.3_Silent_p.S227S	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATTGGGAGCCATGTGATCG	0.488																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(685-687)agC>agT		C-type lectin domain family 16, member A							79.0	77.0	77.0					16																	11066877		1967	4164	6131	SO:0001819	synonymous_variant	23274							g.chr16:11066877C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.687C>T	16.37:g.11066877C>T						CLEC16A_ENST00000409552.3_Silent_p.S227S	p.S229S	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			7	917	+			229						Silent	SNP	ENST00000409790.1	37	c.687C>T	CCDS45409.1																																																																																				0.488	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		17	59	0	0	0	1	0	17	59				
OR6X1	390260	broad.mit.edu	37	11	123624503	123624503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624503G>A	ENST00000327930.2	-	1	750	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTCAGGTGCGAGGCACAG	0.458																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(724-726)Cac>Tac		olfactory receptor, family 6, subfamily X, member 1							103.0	83.0	90.0					11																	123624503		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624503G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.724C>T	11.37:g.123624503G>A	ENSP00000333724:p.His242Tyr						p.H242Y	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	750	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	242					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.724C>T	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858060	0.71834	.	.	ENSG00000221931	ENST00000327930	T	0.00314	8.14	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.97158	3.95	0.46954	D	0.999262	D	0.89917	1.0	D	0.91635	0.999	T	0.41342	-0.9514	9	0.87932	D	0	-14.9416	14.1152	0.65149	0.0:0.0:1.0:0.0	.	242	Q8NH79	OR6X1_HUMAN	Y	242	ENSP00000333724:H242Y	ENSP00000333724:H242Y	H	-	1	0	OR6X1	123129713	1.000000	0.71417	0.994000	0.49952	0.753000	0.42808	8.908000	0.92640	2.191000	0.70037	0.650000	0.86243	CAC		0.458	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		70	350	0	0	0	1	0	70	350				
CFAP97	57587	broad.mit.edu	37	4	186085198	186085198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186085198G>T	ENST00000458385.2	-	4	1575	c.1456C>A	c.(1456-1458)Caa>Aaa	p.Q486K		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		486										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTATATTGGCCAAGAGTG	0.343																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(1456-1458)Caa>Aaa		KIAA1430							154.0	144.0	147.0					4																	186085198		1860	4094	5954	SO:0001583	missense	57587							g.chr4:186085198G>T																												ENST00000458385.2:c.1456C>A	4.37:g.186085198G>T	ENSP00000409964:p.Gln486Lys						p.Q486K	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	4	1575	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	486					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.1456C>A	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001628	0.35320	.	.	ENSG00000164323	ENST00000458385	T	0.30981	1.51	5.33	5.33	0.75918	.	.	.	.	.	T	0.21509	0.0518	N	0.19112	0.55	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.02661	-1.1127	9	0.07990	T	0.79	-1.5405	17.1773	0.86844	0.0:0.0:1.0:0.0	.	486	Q9P2B7	K1430_HUMAN	K	486	ENSP00000409964:Q486K	ENSP00000409964:Q486K	Q	-	1	0	KIAA1430	186322192	1.000000	0.71417	0.895000	0.35142	0.300000	0.27592	5.747000	0.68689	2.637000	0.89404	0.655000	0.94253	CAA		0.343	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			37	302	1	0	1.34996e-11	1	1.44199e-11	37	302				
BGLAP	632	broad.mit.edu	37	1	156209359	156209359	+	5'Flank	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156209359G>T	ENST00000368272.4	+	0	0				PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000368273.4_Missense_Mutation_p.R197S|PMF1_ENST00000368279.3_Missense_Mutation_p.G175V|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000368277.3_Missense_Mutation_p.R195S|PMF1-BGLAP_ENST00000368276.4_Intron	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein						bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	GAGAACAGAGGGAGCTGGTTG	0.567																																						ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(583-585)agG>agT		polyamine-modulated factor 1							134.0	131.0	132.0					1																	156209359		2203	4300	6503	SO:0001631	upstream_gene_variant	11243							g.chr1:156209359G>T	X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"""osteocalcin"""	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819		1.37:g.156209359G>T	Exception_encountered					PMF1_ENST00000368279.3_Missense_Mutation_p.G175V|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000368273.4_Missense_Mutation_p.R197S	p.R195S	NM_007221.3	NP_009152.2					5	594	+	Hepatocellular(266;0.158)							Q5TCK6	Missense_Mutation	SNP	ENST00000368272.4	37	c.585G>T	CCDS1134.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.53|16.53	3.148839|3.148839	0.57151|0.57151	.|.	.|.	ENSG00000160783|ENSG00000160783	ENST00000368279|ENST00000368273;ENST00000368277	T|T;T	0.57907|0.33654	0.37|1.4;1.5	5.07|5.07	2.14|2.14	0.27477|0.27477	.|.	.|.	.|.	.|.	.|.	T|T	0.12475|0.12475	0.0303|0.0303	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|B	0.29301|0.23377	0.241|0.084	B|B	0.38985|0.20767	0.287|0.031	T|T	0.06807|0.06807	-1.0806|-1.0806	9|9	0.87932|0.72032	D|D	0|0.01	.|.	9.4035|9.4035	0.38447|0.38447	0.256:0.0:0.744:0.0|0.256:0.0:0.744:0.0	.|.	175|195	Q5TCK1|Q6P1K2	.|PMF1_HUMAN	V|S	175|197;195	ENSP00000357262:G175V|ENSP00000357256:R197S;ENSP00000357260:R195S	ENSP00000357262:G175V|ENSP00000357256:R197S	G|R	+|+	2|3	0|2	PMF1|PMF1	154475983|154475983	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.658000|0.658000	0.24979|0.24979	0.408000|0.408000	0.25621|0.25621	-0.810000|-0.810000	0.03169|0.03169	GGG|AGG		0.567	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040867.2	NM_199173		123	468	1	0	3.75716e-53	1	4.6801e-53	123	468				
TCN2	6948	broad.mit.edu	37	22	31011607	31011607	+	Missense_Mutation	SNP	T	T	A	rs113331651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011607T>A	ENST00000215838.3	+	6	1267	c.773T>A	c.(772-774)aTg>aAg	p.M258K	TCN2_ENST00000405742.3_Missense_Mutation_p.M254K|TCN2_ENST00000407817.3_Missense_Mutation_p.M231K			P20062	TCO2_HUMAN	transcobalamin II	258					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTCCCCCATGCGTGGGGCA	0.577																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(772-774)aTg>aAg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						64.0	58.0	60.0					22																	31011607		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011607T>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.773T>A	22.37:g.31011607T>A	ENSP00000215838:p.Met258Lys					TCN2_ENST00000407817.3_Missense_Mutation_p.M231K|TCN2_ENST00000405742.3_Missense_Mutation_p.M254K	p.M258K			P20062	TCO2_HUMAN			6	1267	+			258					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.773T>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	T	0.195	-1.050182	0.01981	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.32023	1.47;1.47;1.47	5.31	-7.28	0.01456	.	1.154450	0.05920	N	0.633364	T	0.14830	0.0358	L	0.31294	0.92	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.0	T	0.34775	-0.9815	10	0.06099	T	0.92	0.7059	5.9433	0.19205	0.1018:0.4803:0.1114:0.3065	.	231;254;258	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	258;254;231	ENSP00000215838:M258K;ENSP00000385914:M254K;ENSP00000384914:M231K	ENSP00000215838:M258K	M	+	2	0	TCN2	29341607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.590000	0.01623	-0.441000	0.05720	ATG		0.577	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		39	203	0	0	0	1	0	39	203				
KIF1B	23095	broad.mit.edu	37	1	10363814	10363814	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10363814C>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Silent_p.V857V|KIF1B_ENST00000377083.1_Silent_p.V857V|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAAAAAGTCTTGCCACTGA	0.393																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2569-2571)gtC>gtT		kinesin family member 1B							43.0	47.0	46.0					1																	10363814		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10363814C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6510C>T	1.37:g.10363814C>T						KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.V857V	p.V857V	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	2724	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.2571C>T																																																																																					0.393	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			53	219	0	0	0	1	0	53	219				
SLC30A3	7781	broad.mit.edu	37	2	27479733	27479733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27479733C>A	ENST00000233535.4	-	6	1158	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	269					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAAGGTGCTGATGGGGTC	0.562																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(805-807)aGc>aTc		solute carrier family 30 (zinc transporter), member 3							103.0	111.0	108.0					2																	27479733		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479733C>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.806G>T	2.37:g.27479733C>A	ENSP00000233535:p.Ser269Ile					SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	p.S269I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			6	1158	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		269					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.806G>T	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135643	0.77662	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351	T;T;T	0.61392	0.11;0.11;0.11	5.34	5.34	0.76211	.	0.087859	0.85682	D	0.000000	T	0.37544	0.1007	N	0.01454	-0.855	0.49389	D	0.999782	B;B	0.26577	0.126;0.153	B;B	0.34346	0.113;0.18	T	0.49204	-0.8964	10	0.87932	D	0	-16.6047	16.9157	0.86150	0.0:1.0:0.0:0.0	.	264;269	F5H3B7;Q99726	.;ZNT3_HUMAN	I	269;264;206;220	ENSP00000233535:S269I;ENSP00000415226:S264I;ENSP00000414320:S220I	ENSP00000233535:S269I	S	-	2	0	SLC30A3	27333237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.605000	0.82844	2.663000	0.90544	0.555000	0.69702	AGC		0.562	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			67	153	1	0	2.02627e-32	1	2.39265e-32	67	153				
CDC37	11140	broad.mit.edu	37	19	10506754	10506754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10506754G>A	ENST00000222005.2	-	2	281	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	76					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCCTTGCCGCCCTCGGCCA	0.652																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(226-228)ggC>ggT		cell division cycle 37							94.0	92.0	92.0					19																	10506754		2203	4300	6503	SO:0001819	synonymous_variant	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506754G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.228C>T	19.37:g.10506754G>A							p.G76G	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	281	-			76					Q53YA2	Silent	SNP	ENST00000222005.2	37	c.228C>T	CCDS12237.1																																																																																				0.652	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		198	802	0	0	0	1	0	198	802				
TIAL1	7073	broad.mit.edu	37	10	121342012	121342012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121342012C>T	ENST00000436547.2	-	3	231	c.187G>A	c.(187-189)Gct>Act	p.A63T	TIAL1_ENST00000369093.2_Missense_Mutation_p.A80T|TIAL1_ENST00000369092.4_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	63	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GCTAATGCAGCAGCTGCATCT	0.378																																						ENST00000369093.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13						c.(238-240)Gct>Act		TIA1 cytotoxic granule-associated RNA binding protein-like 1							117.0	126.0	123.0					10																	121342012		2203	4300	6503	SO:0001583	missense	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121342012C>T	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.187G>A	10.37:g.121342012C>T	ENSP00000394902:p.Ala63Thr					TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000436547.2_Missense_Mutation_p.A63T	p.A80T	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	3	267	-		Lung NSC(174;0.094)|all_lung(145;0.123)	63			RRM 1.		A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	c.238G>A	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405115	0.62288	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049698	0.85682	D	0.000000	T	0.25680	0.0625	N	0.25825	0.765	0.80722	D	1	B;P	0.49559	0.009;0.925	B;P	0.59012	0.025;0.85	T	0.01476	-1.1345	10	0.09338	T	0.73	-16.3566	20.3018	0.98617	0.0:1.0:0.0:0.0	.	80;63	A8K4L9;Q01085	.;TIAR_HUMAN	T	80;63;24;24	ENSP00000358089:A80T;ENSP00000394902:A63T;ENSP00000403573:A24T;ENSP00000358082:A24T	ENSP00000358082:A24T	A	-	1	0	TIAL1	121332002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.799000	0.96334	0.650000	0.86243	GCT		0.378	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		119	515	0	0	0	1	0	119	515				
UNC5A	90249	broad.mit.edu	37	5	176304689	176304689	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176304689C>T	ENST00000329542.4	+	10	1894	c.1620C>T	c.(1618-1620)tgC>tgT	p.C540C	UNC5A_ENST00000261961.3_Silent_p.C500C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	540	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGTCGTGCGAGGGCAGCT	0.672																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1618-1620)tgC>tgT		unc-5 homolog A (C. elegans)							24.0	23.0	23.0					5																	176304689		2203	4297	6500	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304689C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1620C>T	5.37:g.176304689C>T						UNC5A_ENST00000261961.3_Silent_p.C500C	p.C540C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1894	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	540			ZU5.		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1620C>T	CCDS34299.1																																																																																				0.672	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		45	126	0	0	0	1	0	45	126				
TRMT61A	115708	broad.mit.edu	37	14	103996563	103996563	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103996563G>A	ENST00000389749.4	+	2	355	c.248G>A	c.(247-249)cGc>cAc	p.R83H	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	83						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CTGCCGCACCGCACGCAGATC	0.642																																						ENST00000389749.4																			0				skin(1)	1						c.(247-249)cGc>cAc		tRNA methyltransferase 61 homolog A (S. cerevisiae)							82.0	91.0	88.0					14																	103996563		2185	4284	6469	SO:0001583	missense	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:103996563G>A	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.248G>A	14.37:g.103996563G>A	ENSP00000374399:p.Arg83His						p.R83H	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN			2	355	+			83					A6NN78|Q8N7Q9	Missense_Mutation	SNP	ENST00000389749.4	37	c.248G>A	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406675	0.96051	.	.	ENSG00000166166	ENST00000389749;ENST00000299201	T	0.61742	0.08	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87926	0.2707	10	0.52906	T	0.07	-11.4544	16.8232	0.85924	0.0:0.0:1.0:0.0	.	83	Q96FX7	TRM61_HUMAN	H	83	ENSP00000374399:R83H	ENSP00000299201:R83H	R	+	2	0	TRMT61A	103066316	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.448000	0.97600	2.186000	0.69663	0.462000	0.41574	CGC		0.642	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		134	651	0	0	0	1	0	134	651				
CALML3	810	broad.mit.edu	37	10	5566985	5566985	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5566985G>A	ENST00000315238.1	+	0	62				RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000543008.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3							extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						CAGCAGCCGGGCTGCGGCACT	0.682																																					Colon(173;2070 2647 27580 52203)	ENST00000315238.1																			0				endometrium(3)|lung(2)	5								calmodulin-like 3																																						810						calcium ion binding	g.chr10:5566985G>A	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597		10.37:g.5566985G>A						CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA		NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN			0	62	+								B2R9V6|Q5SQI4	Translation_Start_Site	SNP	ENST00000315238.1	37		CCDS7069.1																																																																																				0.682	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		19	59	0	0	0	1	0	19	59				
ECM2	1842	broad.mit.edu	37	9	95277420	95277420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95277420C>A	ENST00000344604.5	-	4	696	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECM2_ENST00000444490.2_Splice_Site|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	183					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTCTTTGTTCTGAAGAATCA	0.403																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(547-549)Gaa>Taa		extracellular matrix protein 2, female organ and adipocyte specific							61.0	62.0	61.0					9																	95277420		2203	4300	6503	SO:0001587	stop_gained	1842				cell-matrix adhesion		integrin binding	g.chr9:95277420C>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.547G>T	9.37:g.95277420C>A	ENSP00000344758:p.Glu183*					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Splice_Site	p.E183*	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	696	-			183					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Nonsense_Mutation	SNP	ENST00000344604.5	37	c.547G>T	CCDS6698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801349|3.801349	0.70567|0.70567	.|.	.|.	ENSG00000106823|ENSG00000106823	ENST00000444490|ENST00000344604	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.501876	.|0.22979	.|N	.|0.053335	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.46703	.|T	.|0.11	.|.	13.8795|13.8795	0.63674|0.63674	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	.|.	.|.	.|.	.|X	-1|183	.|.	.|ENSP00000344758:E183X	.|E	-|-	.|1	.|0	ECM2|ECM2	94317241|94317241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.029000|4.029000	0.57253|0.57253	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	.|GAA		0.403	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		75	243	1	0	3.4779e-39	1	4.20191e-39	75	243				
PFAS	5198	broad.mit.edu	37	17	8166542	8166542	+	Missense_Mutation	SNP	A	A	G	rs35976967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8166542A>G	ENST00000314666.6	+	13	1659	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N85S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	509					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCCAAGGGAAACCCCATCTGC	0.577																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1525-1527)aAc>aGc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						120.0	123.0	122.0					17																	8166542		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8166542A>G	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1526A>G	17.37:g.8166542A>G	ENSP00000313490:p.Asn509Ser					PFAS_ENST00000545834.1_Missense_Mutation_p.N85S|PFAS_ENST00000585319.1_3'UTR	p.N509S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			13	1659	+			509					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1526A>G	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603648	0.46423	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.32023	1.47;1.47	5.91	5.91	0.95273	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.65105	-0.6249	10	0.87932	D	0	-24.994	14.3033	0.66368	1.0:0.0:0.0:0.0	.	85;509	F5GWT9;O15067	.;PUR4_HUMAN	S	85;509	ENSP00000441706:N85S;ENSP00000313490:N509S	ENSP00000313490:N509S	N	+	2	0	PFAS	8107267	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	8.163000	0.89659	2.266000	0.75297	0.533000	0.62120	AAC		0.577	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			73	686	0	0	0	1	0	73	686				
DACH2	117154	broad.mit.edu	37	X	85950138	85950138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85950138C>T	ENST00000373125.4	+	5	887	c.887C>T	c.(886-888)gCt>gTt	p.A296V	DACH2_ENST00000508860.1_Missense_Mutation_p.A129V|DACH2_ENST00000510272.1_Missense_Mutation_p.A77V|DACH2_ENST00000373131.1_Missense_Mutation_p.A283V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	296					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATTGGGGGTGCTCCAACCCTC	0.498																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(847-849)gCt>gTt		dachshund homolog 2 (Drosophila)							63.0	47.0	53.0					X																	85950138		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85950138C>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.887C>T	X.37:g.85950138C>T	ENSP00000362217:p.Ala296Val					DACH2_ENST00000508860.1_Missense_Mutation_p.A129V|DACH2_ENST00000373125.4_Missense_Mutation_p.A296V|DACH2_ENST00000510272.1_Missense_Mutation_p.A77V	p.A283V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			4	1011	+			296					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.848C>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	c	9.268	1.045024	0.19748	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83250	-1.7;-1.7	4.99	4.12	0.48240	.	0.399373	0.23832	N	0.044125	T	0.68220	0.2977	N	0.19112	0.55	0.25362	N	0.98878	B;P;P	0.43094	0.323;0.799;0.514	B;B;B	0.36567	0.079;0.228;0.077	T	0.57254	-0.7843	10	0.17832	T	0.49	.	12.8008	0.57584	0.0:0.918:0.0:0.082	.	162;283;296	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	296;283;296;129;77;129	ENSP00000362223:A283V;ENSP00000362217:A296V	ENSP00000345134:A296V	A	+	2	0	DACH2	85836794	0.999000	0.42202	0.021000	0.16686	0.004000	0.04260	3.625000	0.54238	0.885000	0.36088	0.509000	0.49947	GCT		0.498	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		19	97	0	0	0	1	0	19	97				
ZFP3	124961	broad.mit.edu	37	17	4996027	4996027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4996027G>A	ENST00000318833.3	+	2	1564	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCACCTTATTGTCCACCAGAG	0.433																																						ENST00000318833.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(1228-1230)Gtc>Atc		ZFP3 zinc finger protein							70.0	67.0	68.0					17																	4996027		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996027G>A	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1228G>A	17.37:g.4996027G>A	ENSP00000320347:p.Val410Ile						p.V410I	NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN			2	1564	+			410					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1228G>A	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293593	0.23564	.	.	ENSG00000180787	ENST00000318833	T	0.17854	2.25	3.96	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33217	N	0.005159	T	0.15825	0.0381	N	0.05608	-0.01	0.09310	N	1	P	0.49862	0.929	D	0.63703	0.917	T	0.05599	-1.0875	10	0.33940	T	0.23	-9.5861	6.2776	0.20989	0.2192:0.0:0.7808:0.0	.	410	Q96NJ6	ZFP3_HUMAN	I	410	ENSP00000320347:V410I	ENSP00000320347:V410I	V	+	1	0	ZFP3	4936751	0.000000	0.05858	0.731000	0.30826	0.979000	0.70002	0.231000	0.17872	1.265000	0.44215	0.655000	0.94253	GTC		0.433	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		23	354	0	0	0	1	0	23	354				
MAGEA8	4107	broad.mit.edu	37	X	149013843	149013843	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149013843G>A	ENST00000542674.1	+	3	1318	c.797G>A	c.(796-798)gGc>gAc	p.G266D	MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000535454.1_Missense_Mutation_p.G266D	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	266	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCGCCCGGCAGTGATCCT	0.572																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(796-798)gGc>gAc		melanoma antigen family A, 8							112.0	106.0	108.0					X																	149013843		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013843G>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.797G>A	X.37:g.149013843G>A	ENSP00000443776:p.Gly266Asp					MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000542674.1_Missense_Mutation_p.G266D	p.G266D	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1346	+	Acute lymphoblastic leukemia(192;6.56e-05)		266			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.797G>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	5.488	0.274967	0.10403	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04551	3.6;3.6;3.6	1.0	-0.00804	0.14006	.	1.973700	0.02584	N	0.099221	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B	0.19935	0.04	B	0.28709	0.093	T	0.41787	-0.9489	10	0.27082	T	0.32	.	3.2982	0.06974	0.3338:0.0:0.6662:0.0	rs45577435	266	P43361	MAGA8_HUMAN	D	266	ENSP00000438293:G266D;ENSP00000443776:G266D;ENSP00000286482:G266D	ENSP00000286482:G266D	G	+	2	0	MAGEA8	148774501	0.000000	0.05858	0.116000	0.21606	0.417000	0.31264	-0.366000	0.07563	-0.074000	0.12820	0.190000	0.17370	GGC		0.572	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		192	656	0	0	0	1	0	192	656				
RGS17	26575	broad.mit.edu	37	6	153347642	153347642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153347642C>T	ENST00000367225.2	-	2	180	c.156G>A	c.(154-156)gcG>gcA	p.A52A	RGS17_ENST00000206262.1_Silent_p.A52A			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	52					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A52A(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TGGGTCTTCCCGCATTTTCCC	0.388																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	ENST00000367225.2																			1	Substitution - coding silent(1)	p.A52A(1)	lung(1)	cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(154-156)gcG>gcA		regulator of G-protein signaling 17							326.0	240.0	269.0					6																	153347642		2203	4300	6503	SO:0001819	synonymous_variant	26575				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153347642C>T	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.156G>A	6.37:g.153347642C>T						RGS17_ENST00000206262.1_Silent_p.A52A	p.A52A			Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	2	180	-		Ovarian(120;0.126)	52					Q5TF49|Q8TD61|Q9UJS8	Silent	SNP	ENST00000367225.2	37	c.156G>A	CCDS5244.1																																																																																				0.388	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			97	504	0	0	0	1	0	97	504				
MTCL1	23255	broad.mit.edu	37	18	8819017	8819017	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8819017C>T	ENST00000306329.11	+	11	3873	c.3873C>T	c.(3871-3873)gaC>gaT	p.D1291D	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Silent_p.D931D|SOGA2_ENST00000517570.1_Silent_p.D931D|SOGA2_ENST00000359865.3_Silent_p.D972D|SOGA2_ENST00000306285.7_Intron																							ATCAAAAAGACGGCAACGTTC	0.507																																						ENST00000359865.3																			0											c.(2914-2916)gaC>gaT		SOGA family member 2							67.0	75.0	73.0					18																	8819017		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8819017C>T																												ENST00000306329.11:c.3873C>T	18.37:g.8819017C>T						SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Silent_p.D931D|SOGA2_ENST00000517570.1_Silent_p.D931D|SOGA2_ENST00000306329.11_Silent_p.D1291D	p.D972D	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			13	3058	+			1282						Silent	SNP	ENST00000306329.11	37	c.2916C>T																																																																																					0.507	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			145	533	0	0	0	1	0	145	533				
FBXO21	23014	broad.mit.edu	37	12	117595739	117595739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117595739G>A	ENST00000330622.5	-	10	1476	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	FBXO21_ENST00000427718.2_Missense_Mutation_p.R486C			O94952	FBX21_HUMAN	F-box protein 21	493					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TCATCGGAGCGCAGCTTCACC	0.587																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1456-1458)Cgc>Tgc		F-box protein 21							211.0	175.0	187.0					12																	117595739		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595739G>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1477C>T	12.37:g.117595739G>A	ENSP00000328187:p.Arg493Cys					FBXO21_ENST00000330622.5_Missense_Mutation_p.R493C	p.R486C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1530	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		493					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1456C>T	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.977439|4.977439	0.92982|0.92982	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000550180|ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	.|T;T	.|0.58652	.|0.45;0.32	5.02|5.02	5.02|5.02	0.67125|0.67125	.|F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65260|0.65260	0.2674|0.2674	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|P;P;P;D	.|0.66196	.|0.908;0.886;0.719;0.942	T|T	0.69705|0.69705	-0.5073|-0.5073	5|10	.|0.87932	.|D	.|0	-13.0067|-13.0067	18.5372|18.5372	0.91014|0.91014	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|342;236;493;486	.|Q8IUQ5;B3KQC8;O94952;O94952-1	.|.;.;FBX21_HUMAN;.	V|C	369|486;402;342;493;145	.|ENSP00000414468:R486C;ENSP00000328187:R493C	.|ENSP00000257563:R402C	A|R	-|-	2|1	0|0	FBXO21|FBXO21	116080122|116080122	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	7.406000|7.406000	0.80017|0.80017	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.587	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		248	905	0	0	0	1	0	248	905				
SYNE2	23224	broad.mit.edu	37	14	64532244	64532244	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532244G>T	ENST00000344113.4	+	51	10519	c.10307G>T	c.(10306-10308)gGc>gTc	p.G3436V	SYNE2_ENST00000554584.1_Missense_Mutation_p.G3469V|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.G3436V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3436					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATGATGGCATATGTTTG	0.443																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10306-10308)gGc>gTc		spectrin repeat containing, nuclear envelope 2							168.0	160.0	162.0					14																	64532244		1948	4151	6099	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532244G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10307G>T	14.37:g.64532244G>T	ENSP00000341781:p.Gly3436Val					SYNE2_ENST00000344113.4_Missense_Mutation_p.G3436V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G3469V	p.G3436V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10537	+			3436					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10307G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302938	0.23736	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.47528	1.41;0.84;1.41;4.19	5.2	0.842	0.18927	.	0.684405	0.14471	N	0.317589	T	0.24851	0.0603	N	0.19112	0.55	0.09310	N	0.999998	B;P	0.36183	0.407;0.542	B;B	0.34385	0.088;0.181	T	0.10730	-1.0617	10	0.41790	T	0.15	.	1.6822	0.02834	0.2422:0.184:0.4448:0.1291	.	3436;3436	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	3436;3436;3469;3469;70	ENSP00000350719:G3436V;ENSP00000341781:G3436V;ENSP00000452570:G3469V;ENSP00000450831:G70V	ENSP00000261678:G3469V	G	+	2	0	SYNE2	63601997	0.007000	0.16637	0.000000	0.03702	0.264000	0.26372	1.415000	0.34748	0.171000	0.19730	0.650000	0.86243	GGC		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		20	309	1	0	1.2644e-06	1	1.30616e-06	20	309				
ADAM18	8749	broad.mit.edu	37	8	39534975	39534975	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39534975T>G	ENST00000265707.5	+	15	1596	c.1551T>G	c.(1549-1551)tgT>tgG	p.C517W	ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	517	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTTGCCTGTTTTAAAGAAG	0.328																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1549-1551)tgT>tgG		ADAM metallopeptidase domain 18							84.0	83.0	83.0					8																	39534975		2203	4299	6502	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39534975T>G	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1551T>G	8.37:g.39534975T>G	ENSP00000265707:p.Cys517Trp					ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W|ADAM18_ENST00000541111.1_5'UTR	p.C517W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		15	1596	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	517			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1551T>G	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805065	0.50315	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.63744	-0.06;-0.06	4.3	0.516	0.17019	ADAM, cysteine-rich (2);	0.000000	0.51477	D	0.000091	T	0.81997	0.4941	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79645	-0.1717	10	0.87932	D	0	.	6.6061	0.22726	0.0:0.265:0.0:0.735	.	493;517	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	W	517;493;449	ENSP00000265707:C517W;ENSP00000369195:C493W	ENSP00000265707:C517W	C	+	3	2	ADAM18	39654132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.157000	0.16402	0.085000	0.17107	0.460000	0.39030	TGT		0.328	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		40	183	0	0	0	1	0	40	183				
LRP6	4040	broad.mit.edu	37	12	12274332	12274332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12274332G>A	ENST00000261349.4	-	23	4646	c.4570C>T	c.(4570-4572)Cac>Tac	p.H1524Y	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1524					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTGCAAAGTGCCGGTAGCTA	0.458																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4570-4572)Cac>Tac		low density lipoprotein receptor-related protein 6							97.0	100.0	99.0					12																	12274332		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274332G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4570C>T	12.37:g.12274332G>A	ENSP00000261349:p.His1524Tyr					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y	p.H1524Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			23	4646	-		Prostate(47;0.0865)	1524					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4570C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343291	0.41498	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92965	-3.08;-3.14	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000004	D	0.90208	0.6939	L	0.43152	1.355	0.58432	D	0.999998	P;B	0.46912	0.886;0.012	B;B	0.41510	0.359;0.008	D	0.90167	0.4232	10	0.49607	T	0.09	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1479;1524	F5H7J9;O75581	.;LRP6_HUMAN	Y	1524;1479	ENSP00000261349:H1524Y;ENSP00000442472:H1479Y	ENSP00000261349:H1524Y	H	-	1	0	LRP6	12165599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.044000	0.71012	2.780000	0.95670	0.643000	0.83706	CAC		0.458	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			85	538	0	0	0	1	0	85	538				
RYR1	6261	broad.mit.edu	37	19	39028579	39028579	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39028579C>A	ENST00000359596.3	+	84	11668	c.11668C>A	c.(11668-11670)Ctc>Atc	p.L3890I	RYR1_ENST00000355481.4_Missense_Mutation_p.L3885I|RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I|AC067969.2_ENST00000595853.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3890					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTACAATTGCTCTGTGAGGG	0.562																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(11653-11655)Ctc>Atc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						138.0	112.0	121.0					19																	39028579		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39028579C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11668C>A	19.37:g.39028579C>A	ENSP00000352608:p.Leu3890Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I|RYR1_ENST00000359596.3_Missense_Mutation_p.L3890I	p.L3885I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		83	11784	+	all_cancers(60;7.91e-06)		3890					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11653C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258412	0.39896	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70516	-0.49;-0.49;-0.49	4.85	3.8	0.43715	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000016	D	0.83004	0.5160	M	0.80616	2.505	0.46874	D	0.999236	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67103	0.915;0.915;0.949	D	0.85657	0.1286	10	0.62326	D	0.03	.	14.3277	0.66530	0.0:0.8499:0.1501:0.0	.	3885;3885;3890	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	I	3890;3885;3885	ENSP00000352608:L3890I;ENSP00000347667:L3885I;ENSP00000354254:L3885I	ENSP00000347667:L3885I	L	+	1	0	RYR1	43720419	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	5.564000	0.67359	1.386000	0.46466	0.546000	0.68486	CTC		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			78	451	1	0	9.25274e-37	1	1.1089e-36	78	451				
ZNF516	9658	broad.mit.edu	37	18	74091237	74091237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091237C>T	ENST00000443185.2	-	4	3150	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGCTATTGGCCGAGGGCTGC	0.677																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2833-2835)Gcc>Acc		zinc finger protein 516							20.0	25.0	23.0					18																	74091237		1775	3912	5687	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091237C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2833G>A	18.37:g.74091237C>T	ENSP00000394757:p.Ala945Thr					ZNF516_ENST00000524431.2_5'UTR	p.A945T	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3150	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	945						Missense_Mutation	SNP	ENST00000443185.2	37	c.2833G>A		.	.	.	.	.	.	.	.	.	.	C	0.077	-1.191499	0.01607	.	.	ENSG00000101493	ENST00000443185	T	0.09911	2.93	4.13	2.34	0.29019	.	1.899140	0.02400	N	0.080617	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.35375	-0.9791	9	0.11485	T	0.65	.	3.2019	0.06652	0.1866:0.502:0.0:0.3114	.	945	Q92618	ZN516_HUMAN	T	945	ENSP00000394757:A945T	ENSP00000394757:A945T	A	-	1	0	ZNF516	72220225	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.125000	0.15749	0.520000	0.28426	0.491000	0.48974	GCC		0.677	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		58	300	0	0	0	1	0	58	300				
IL32	9235	broad.mit.edu	37	16	3117423	3117423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3117423C>T	ENST00000534507.1	+	3	272	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	IL32_ENST00000325568.5_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000528163.2_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.L21F|IL32_ENST00000529550.1_Intron|IL32_ENST00000444393.3_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000533097.2_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.L21F|IL32_ENST00000529699.1_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000530538.2_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000396887.3_Intron|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552936.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.L21F|IL32_ENST00000440815.3_Intron			P24001	IL32_HUMAN	interleukin 32	21					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						AATGGTAATGCTCCTCCCTAC	0.567																																						ENST00000534507.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(61-63)Ctc>Ttc		interleukin 32							139.0	124.0	129.0					16																	3117423		2197	4300	6497	SO:0001583	missense	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3117423C>T	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.61C>T	16.37:g.3117423C>T	ENSP00000431775:p.Leu21Phe					IL32_ENST00000528163.2_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000444393.3_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000533097.2_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000396887.3_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.L21F|IL32_ENST00000548246.1_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000552936.1_Intron|IL32_ENST00000529550.1_Intron|IL32_ENST00000530538.2_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.L21F|IL32_ENST00000325568.5_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.L21F|IL32_ENST00000551122.1_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000525643.2_Intron	p.L21F			P24001	IL32_HUMAN			3	272	+			21					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37	c.61C>T		.	.	.	.	.	.	.	.	.	.	C	13.22	2.170705	0.38315	.	.	ENSG00000008517	ENST00000534507;ENST00000548807;ENST00000396890;ENST00000525377;ENST00000548476;ENST00000551513	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	2.13	-1.14	0.09741	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	1	B;B;B	0.29612	0.034;0.034;0.251	B;B;B	0.31245	0.061;0.061;0.126	T	0.20207	-1.0282	7	.	.	.	.	2.7767	0.05349	0.0:0.4225:0.2516:0.3259	.	21;21;21	F8VSD2;E9PIV2;P24001	.;.;IL32_HUMAN	F	21	ENSP00000431775:L21F;ENSP00000448354:L21F;ENSP00000380099:L21F;ENSP00000433866:L21F;ENSP00000449483:L21F;ENSP00000449147:L21F	.	L	+	1	0	IL32	3057424	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.898000	0.04105	-0.226000	0.09899	0.551000	0.68910	CTC		0.567	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		126	512	0	0	0	1	0	126	512				
TNFRSF10B	8795	broad.mit.edu	37	8	22884752	22884752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22884752C>T	ENST00000276431.4	-	7	1114	c.830G>A	c.(829-831)aGt>aAt	p.S277N	TNFRSF10B_ENST00000519910.1_5'Flank|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	277					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTGCAAGATACTCACGATCTC	0.547																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(829-831)aGt>aAt		tumor necrosis factor receptor superfamily, member 10b							97.0	89.0	92.0					8																	22884752		2203	4300	6503	SO:0001583	missense	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22884752C>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.830G>A	8.37:g.22884752C>T	ENSP00000276431:p.Ser277Asn					TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N	p.S277N	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	7	1114	-		Prostate(55;0.0421)|Breast(100;0.067)	277					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	c.830G>A	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	6.689	0.495734	0.12762	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;T	0.86769	-1.91;-2.17;2.71	2.5	-3.9	0.04181	.	7739.210000	0.00166	U	0.000000	T	0.77658	0.4163	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.33549	0.386;0.417;0.126;0.2;0.236	B;B;B;B;B	0.30782	0.075;0.052;0.038;0.12;0.031	T	0.62774	-0.6783	10	0.35671	T	0.21	.	0.879	0.01230	0.1718:0.2412:0.3395:0.2476	.	97;277;277;248;42	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	N	277;248;97	ENSP00000276431:S277N;ENSP00000317859:S248N;ENSP00000443386:S97N	ENSP00000276431:S277N	S	-	2	0	TNFRSF10B	22940697	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.548000	0.02184	-1.047000	0.03242	-0.282000	0.10007	AGT		0.547	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		54	208	0	0	0	1	0	54	208				
ABCA13	154664	broad.mit.edu	37	7	48314629	48314629	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48314629A>G	ENST00000435803.1	+	17	5390	c.5366A>G	c.(5365-5367)gAa>gGa	p.E1789G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1789					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCACCAAGGAAGACTTCGCA	0.388																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5365-5367)gAa>gGa		ATP-binding cassette, sub-family A (ABC1), member 13							49.0	47.0	48.0					7																	48314629		1874	4118	5992	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314629A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5366A>G	7.37:g.48314629A>G	ENSP00000411096:p.Glu1789Gly						p.E1789G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5390	+			1789					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5366A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606263	0.46527	.	.	ENSG00000179869	ENST00000435803	T	0.19938	2.11	5.92	4.74	0.60224	.	0.131057	0.34314	N	0.004079	T	0.31734	0.0806	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.02365	-1.1170	9	.	.	.	.	11.2484	0.49010	0.8471:0.1529:0.0:0.0	.	1789	Q86UQ4	ABCAD_HUMAN	G	1789	ENSP00000411096:E1789G	.	E	+	2	0	ABCA13	48285175	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	3.938000	0.56583	1.029000	0.39812	0.455000	0.32223	GAA		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		37	146	0	0	0	1	0	37	146				
MROH7	374977	broad.mit.edu	37	1	55144999	55144999	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55144999C>A	ENST00000421030.2	+	12	2398	c.2113C>A	c.(2113-2115)Ctg>Atg	p.L705M	MROH7_ENST00000395690.2_Missense_Mutation_p.L705M|MROH7_ENST00000545244.1_Missense_Mutation_p.L273M|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.L705M|MROH7_ENST00000454855.2_Missense_Mutation_p.L223M|MROH7_ENST00000339553.5_Missense_Mutation_p.L705M|MROH7_ENST00000409996.1_Missense_Mutation_p.L273M	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	705						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCTGGAAGGGCTGAAAGGCAG	0.592																																						ENST00000414150.2																			0											c.(2113-2115)Ctg>Atg		maestro heat-like repeat family member 7							66.0	73.0	71.0					1																	55144999		1956	4151	6107	SO:0001583	missense	374977							g.chr1:55144999C>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2113C>A	1.37:g.55144999C>A	ENSP00000396622:p.Leu705Met					MROH7_ENST00000454855.2_Missense_Mutation_p.L223M|MROH7_ENST00000409996.1_Missense_Mutation_p.L273M|MROH7_ENST00000339553.5_Missense_Mutation_p.L705M|MROH7_ENST00000421030.2_Missense_Mutation_p.L705M|MROH7_ENST00000545244.1_Missense_Mutation_p.L273M|MROH7_ENST00000395690.2_Missense_Mutation_p.L705M	p.L705M							12	2391	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2113C>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	9.400	1.077749	0.20227	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	4.88	1.85	0.25348	.	0.178026	0.26377	N	0.024738	T	0.50888	0.1642	L	0.60455	1.87	0.20821	N	0.999847	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.987;0.995;0.983	T	0.41680	-0.9495	10	0.56958	D	0.05	-9.1048	9.4812	0.38902	0.0:0.7224:0.0:0.2776	.	705;705;273	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	M	705;273;734;705;273;223;705	ENSP00000396622:L705M;ENSP00000442333:L273M;ENSP00000343211:L705M;ENSP00000387048:L273M;ENSP00000401130:L223M;ENSP00000379044:L705M	ENSP00000343211:L705M	L	+	1	2	HEATR8	54917587	0.998000	0.40836	0.332000	0.25469	0.137000	0.21094	0.514000	0.22786	-0.128000	0.11641	-1.151000	0.01829	CTG		0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		29	560	1	0	2.65835e-16	1	2.91905e-16	29	560				
CUX1	1523	broad.mit.edu	37	7	101916707	101916707	+	Silent	SNP	C	C	T	rs200271633	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101916707C>T	ENST00000437600.4	+	15	1672	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.I426I|CUX1_ENST00000425244.2_Silent_p.I396I|CUX1_ENST00000393824.3_Silent_p.I403I|CUX1_ENST00000292538.4_Silent_p.I442I	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGAGCTGATCGCCCGCCTGG	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19500	0.0		0.0	False		,,,				2504	0.0					ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1318-1320)atC>atT		cut-like homeobox 1							58.0	47.0	51.0					7																	101916707		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101916707C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1320C>T	7.37:g.101916707C>T						CUX1_ENST00000292538.4_Silent_p.I442I|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.I426I|CUX1_ENST00000393824.3_Silent_p.I403I|CUX1_ENST00000425244.2_Silent_p.I396I	p.I440I	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			15	1672	+			299					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	37	c.1320C>T	CCDS47672.1																																																																																				0.637	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		16	91	0	0	0	1	0	16	91				
EPAS1	2034	broad.mit.edu	37	2	46609140	46609140	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46609140A>G	ENST00000263734.3	+	14	2709	c.2199A>G	c.(2197-2199)tcA>tcG	p.S733S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	733					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGCACCTCACATTTGATGT	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2197-2199)tcA>tcG		endothelial PAS domain protein 1							44.0	48.0	47.0					2																	46609140		2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46609140A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2199A>G	2.37:g.46609140A>G							p.S733S	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		14	2709	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	733					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.2199A>G	CCDS1825.1																																																																																				0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		58	178	0	0	0	1	0	58	178				
LURAP1L	286343	broad.mit.edu	37	9	12821638	12821638	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12821638A>G	ENST00000319264.3	+	2	1261	c.566A>G	c.(565-567)gAt>gGt	p.D189G		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	192																	TTGGCGGATGATGTCCCAGGC	0.532																																						ENST00000319264.3																			0											c.(565-567)gAt>gGt		leucine rich adaptor protein 1-like							190.0	163.0	172.0					9																	12821638		2203	4300	6503	SO:0001583	missense	286343							g.chr9:12821638A>G	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.566A>G	9.37:g.12821638A>G	ENSP00000321026:p.Asp189Gly						p.D189G	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			2	1261	+			192					Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	c.566A>G	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955867	0.73902	.	.	ENSG00000153714	ENST00000319264	T	0.52057	0.68	5.49	5.49	0.81192	.	0.529823	0.19248	N	0.119013	T	0.58581	0.2132	L	0.42245	1.32	0.45621	D	0.998556	D	0.89917	1.0	D	0.71870	0.975	T	0.59380	-0.7465	10	0.59425	D	0.04	.	10.7702	0.46319	0.8584:0.0:0.0:0.1416	.	192	Q8IV03	CI150_HUMAN	G	189	ENSP00000321026:D189G	ENSP00000321026:D189G	D	+	2	0	C9orf150	12811638	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.982000	0.76173	2.084000	0.62774	0.460000	0.39030	GAT		0.532	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		152	547	0	0	0	1	0	152	547				
PRX	57716	broad.mit.edu	37	19	40902860	40902860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902860C>A	ENST00000324001.7	-	7	1669	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	467	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTCCACCTCTGGGAGTCGA	0.597																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1399-1401)Gag>Tag		periaxin							78.0	89.0	85.0					19																	40902860		2203	4300	6503	SO:0001587	stop_gained	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902860C>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1399G>T	19.37:g.40902860C>A	ENSP00000326018:p.Glu467*					PRX_ENST00000291825.7_3'UTR	p.E467*	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1669	-			467			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Nonsense_Mutation	SNP	ENST00000324001.7	37	c.1399G>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699520	0.88830	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	.	.	.	4.14	3.08	0.35506	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.25965	N	0.982578	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-23.9548	7.2074	0.25915	0.0:0.7304:0.1748:0.0948	.	.	.	.	X	467	.	ENSP00000326018:E467X	E	-	1	0	PRX	45594700	0.001000	0.12720	0.098000	0.21074	0.334000	0.28698	0.561000	0.23515	1.089000	0.41292	0.462000	0.41574	GAG		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		193	771	1	0	6.90432e-84	1	8.84267e-84	193	771				
ARHGAP15	55843	broad.mit.edu	37	2	143959710	143959710	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143959710G>T	ENST00000295095.6	+	3	340	c.173G>T	c.(172-174)aGa>aTa	p.R58I	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.R58I	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	58					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGATATCCAGACACAGAAGG	0.303																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(172-174)aGa>aTa		Rho GTPase activating protein 15							109.0	109.0	109.0					2																	143959710		2203	4299	6502	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143959710G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.173G>T	2.37:g.143959710G>T	ENSP00000295095:p.Arg58Ile					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.R58I	p.R58I			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	4	350	+			58					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.173G>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612348	0.87258	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08282	3.11	5.61	5.61	0.85477	.	0.068772	0.64402	D	0.000014	T	0.19087	0.0458	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.71184	0.972;0.495	T	0.02064	-1.1220	10	0.27082	T	0.32	.	17.8083	0.88608	0.0:0.0:1.0:0.0	.	58;58	B4E0R3;Q53QZ3	.;RHG15_HUMAN	I	58	ENSP00000295095:R58I	ENSP00000295095:R58I	R	+	2	0	ARHGAP15	143676180	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.321000	0.72881	2.646000	0.89796	0.585000	0.79938	AGA		0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		57	237	1	0	2.75338e-15	1	3.00596e-15	57	237				
KRT16	3868	broad.mit.edu	37	17	39768755	39768755	+	Silent	SNP	G	G	A	rs200450332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39768755G>A	ENST00000301653.4	-	1	250	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	62	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCCCCAGCCCGCAGGCTCCCC	0.692																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(184-186)tgC>tgT		keratin 16							28.0	35.0	32.0					17																	39768755		2179	4266	6445	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768755G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.186C>T	17.37:g.39768755G>A							p.C62C	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	250	-		Breast(137;0.000307)	62			Head.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.186C>T	CCDS11401.1																																																																																				0.692	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		14	90	0	0	0	1	0	14	90				
RPAP1	26015	broad.mit.edu	37	15	41814317	41814317	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814317T>C	ENST00000304330.4	-	20	2990	c.2874A>G	c.(2872-2874)gcA>gcG	p.A958A	RPAP1_ENST00000561603.1_Silent_p.A958A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	958	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGAGCGAGTGCCAGGTACT	0.582																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(2872-2874)gcA>gcG		RNA polymerase II associated protein 1							81.0	82.0	82.0					15																	41814317		2203	4300	6503	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41814317T>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2874A>G	15.37:g.41814317T>C						RPAP1_ENST00000561603.1_Silent_p.A958A	p.A958A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	20	2990	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	958			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.2874A>G	CCDS10079.1																																																																																				0.582	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		98	453	0	0	0	1	0	98	453				
HERC1	8925	broad.mit.edu	37	15	64025296	64025296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64025296C>T	ENST00000443617.2	-	14	2782	c.2695G>A	c.(2695-2697)Gta>Ata	p.V899I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	899					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGAGGCTACGTGGGTATGA	0.423																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(2695-2697)Gta>Ata		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							155.0	151.0	152.0					15																	64025296		1967	4156	6123	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64025296C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2695G>A	15.37:g.64025296C>T	ENSP00000390158:p.Val899Ile						p.V899I	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			14	2782	-			899					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2695G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458896	0.63401	.	.	ENSG00000103657	ENST00000443617	T	0.24538	1.85	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000006	T	0.36880	0.0983	N	0.20685	0.6	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.07908	-1.0748	10	0.29301	T	0.29	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	899	Q15751	HERC1_HUMAN	I	899	ENSP00000390158:V899I	ENSP00000390158:V899I	V	-	1	0	HERC1	61812349	1.000000	0.71417	0.916000	0.36221	0.951000	0.60555	7.709000	0.84645	2.658000	0.90341	0.655000	0.94253	GTA		0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		93	425	0	0	0	1	0	93	425				
TBC1D2B	23102	broad.mit.edu	37	15	78290595	78290595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78290595G>A	ENST00000300584.3	-	13	2798	c.2799C>T	c.(2797-2799)acC>acT	p.T933T	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_3'UTR|RP11-114H24.6_ENST00000562716.1_RNA	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	933							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTCCAGCTCGGTCAGCTCCA	0.612																																						ENST00000300584.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2797-2799)acC>acT		TBC1 domain family, member 2B							35.0	29.0	31.0					15																	78290595		2196	4289	6485	SO:0001819	synonymous_variant	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290595G>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2799C>T	15.37:g.78290595G>A						TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_3'UTR	p.T933T	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN			13	2798	-			933					A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.2799C>T	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	g	0.387	-0.925472	0.02377	.	.	ENSG00000167202	ENST00000418039	.	.	.	4.48	-8.97	0.00758	.	.	.	.	.	T	0.33294	0.0858	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39210	-0.9625	4	.	.	.	.	1.3117	0.02099	0.1662:0.183:0.2526:0.3982	.	.	.	.	L	815	.	.	P	-	2	0	TBC1D2B	76077650	0.000000	0.05858	0.761000	0.31378	0.066000	0.16364	-5.413000	0.00124	-1.951000	0.01029	-1.544000	0.00907	CCG		0.612	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		4	51	0	0	0	1	0	4	51				
STXBP5L	9515	broad.mit.edu	37	3	121126092	121126092	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126092A>G	ENST00000273666.6	+	24	2933	c.2662A>G	c.(2662-2664)Aca>Gca	p.T888A	STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	888					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTTATAGGTACATTCCTCTC	0.363																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2662-2664)Aca>Gca		syntaxin binding protein 5-like							53.0	51.0	52.0					3																	121126092		1843	4096	5939	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126092A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2662A>G	3.37:g.121126092A>G	ENSP00000273666:p.Thr888Ala					STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A	p.T888A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	2933	+			888					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2662A>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790740	0.31685	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.13	3.98	0.46160	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.164164	0.56097	D	0.000040	T	0.19886	0.0478	L	0.51853	1.615	0.40957	D	0.98459	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	T	0.07673	-1.0760	10	0.20046	T	0.44	-12.4704	6.2561	0.20874	0.7843:0.0:0.0748:0.1409	.	864;888	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	A	888;864;864;862;888;831	ENSP00000273666:T888A;ENSP00000420019:T864A;ENSP00000419627:T864A;ENSP00000420287:T862A;ENSP00000420666:T888A;ENSP00000420167:T831A	ENSP00000273666:T888A	T	+	1	0	STXBP5L	122608782	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.672000	0.54583	0.997000	0.38969	0.449000	0.29647	ACA		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			34	221	0	0	0	1	0	34	221				
ZNF567	163081	broad.mit.edu	37	19	37211114	37211114	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211114C>T	ENST00000536254.2	+	6	1710	c.1488C>T	c.(1486-1488)caC>caT	p.H496H	ZNF567_ENST00000585696.1_Silent_p.H465H|ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF567_ENST00000392163.2_Silent_p.H465H|ZNF567_ENST00000360729.4_Silent_p.H465H|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGATCATCACCGAACTCACA	0.403																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1393-1395)caC>caT		zinc finger protein 567							77.0	75.0	75.0					19																	37211114		2203	4300	6503	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211114C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1488C>T	19.37:g.37211114C>T						ZNF567_ENST00000360729.4_Silent_p.H465H|ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF567_ENST00000536254.2_Silent_p.H496H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.H465H	p.H465H			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2625	+	Esophageal squamous(110;0.198)		496					B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.1395C>T																																																																																					0.403	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		49	260	0	0	0	1	0	49	260				
TJP1	7082	broad.mit.edu	37	15	30010931	30010931	+	Missense_Mutation	SNP	A	A	G	rs141258029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30010931A>G	ENST00000346128.6	-	21	3889	c.3415T>C	c.(3415-3417)Tct>Cct	p.S1139P	TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P|TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1139					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTGTCGTAAGACAGAGGGGCT	0.537													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20578	0.0		0.0	False		,,,				2504	0.0				Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(3415-3417)Tct>Cct		tight junction protein 1							144.0	146.0	145.0					15																	30010931		2092	4212	6304	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30010931A>G		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3415T>C	15.37:g.30010931A>G	ENSP00000281537:p.Ser1139Pro					TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P|TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P	p.S1139P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	21	3889	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1139					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.3415T>C	CCDS42007.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	13.50	2.254561	0.39896	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.08008	3.14;3.25	5.93	-2.63	0.06133	.	0.565561	0.20714	N	0.087029	T	0.06600	0.0169	L	0.56769	1.78	0.25561	N	0.986993	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.39692	T	0.17	.	2.7068	0.05164	0.2688:0.3544:0.2722:0.1047	.	1132;1059;1139;1063	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	P	1139;1063;1139;1059;1059	ENSP00000281537:S1139P;ENSP00000382890:S1063P	ENSP00000281537:S1139P	S	-	1	0	TJP1	27798223	0.966000	0.33281	0.010000	0.14722	0.859000	0.49053	0.557000	0.23454	-0.367000	0.08052	0.460000	0.39030	TCT		0.537	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		129	645	0	0	0	1	0	129	645				
EYA4	2070	broad.mit.edu	37	6	133836487	133836487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133836487C>T	ENST00000367895.5	+	17	1994	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A	EYA4_ENST00000431403.2_Silent_p.A510A|EYA4_ENST00000525849.1_Silent_p.A487A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Silent_p.A462A|EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000355167.3_Silent_p.A510A|EYA4_ENST00000355286.6_Silent_p.A487A|EYA4_ENST00000531901.1_Silent_p.A516A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	510					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAGGGATGCCTGGCTACAGT	0.428																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1528-1530)gcC>gcT		eyes absent homolog 4 (Drosophila)							162.0	155.0	157.0					6																	133836487		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133836487C>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1530C>T	6.37:g.133836487C>T						EYA4_ENST00000355286.6_Silent_p.A487A|EYA4_ENST00000525849.1_Silent_p.A487A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000355167.3_Silent_p.A510A|EYA4_ENST00000431403.2_Silent_p.A510A|EYA4_ENST00000531901.1_Silent_p.A516A|EYA4_ENST00000430974.2_Silent_p.A462A	p.A510A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	17	1994	+	Colorectal(23;0.221)		510					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.1530C>T	CCDS5165.1																																																																																				0.428	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		94	417	0	0	0	1	0	94	417				
SCN11A	11280	broad.mit.edu	37	3	38888777	38888777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38888777A>G	ENST00000302328.3	-	26	4982	c.4784T>C	c.(4783-4785)gTt>gCt	p.V1595A	SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1595					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTTGACAACAATGAGAAA	0.393																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4783-4785)gTt>gCt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						130.0	128.0	128.0					3																	38888777		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888777A>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4784T>C	3.37:g.38888777A>G	ENSP00000307599:p.Val1595Ala					SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A	p.V1595A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4982	-			1595					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4784T>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572899	0.86542	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98717	-5.09;-5.09;-5.09	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	M	0.93507	3.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.98781	1.0732	10	0.87932	D	0	.	15.2886	0.73849	1.0:0.0:0.0:0.0	.	1595	Q9UI33	SCNBA_HUMAN	A	1595;1595;1557	ENSP00000307599:V1595A;ENSP00000400945:V1595A;ENSP00000416757:V1557A	ENSP00000307599:V1595A	V	-	2	0	SCN11A	38863781	1.000000	0.71417	0.772000	0.31596	0.988000	0.76386	9.317000	0.96327	2.006000	0.58801	0.362000	0.22060	GTT		0.393	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		101	388	0	0	0	1	0	101	388				
SLC30A3	7781	broad.mit.edu	37	2	27480182	27480182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27480182C>T	ENST00000233535.4	-	5	969	c.617G>A	c.(616-618)aGc>aAc	p.S206N	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	206					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCGTGGCTGTGGGGGGG	0.662																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(616-618)aGc>aAc		solute carrier family 30 (zinc transporter), member 3							17.0	19.0	18.0					2																	27480182		2202	4299	6501	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480182C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.617G>A	2.37:g.27480182C>T	ENSP00000233535:p.Ser206Asn					SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	p.S206N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			5	969	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		206					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.617G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018026	0.75275	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351;ENST00000426924	T;T;T;T	0.80033	-0.38;-0.37;-1.31;-1.33	5.23	5.23	0.72850	.	0.258927	0.43919	D	0.000511	D	0.83064	0.5173	M	0.63428	1.95	0.48395	D	0.999647	P;P	0.45634	0.863;0.774	P;P	0.49953	0.614;0.627	T	0.79848	-0.1630	10	0.21540	T	0.41	-15.5946	16.6802	0.85290	0.0:1.0:0.0:0.0	.	201;206	F5H3B7;Q99726	.;ZNT3_HUMAN	N	206;201;143;157;193	ENSP00000233535:S206N;ENSP00000415226:S201N;ENSP00000414320:S157N;ENSP00000393545:S193N	ENSP00000233535:S206N	S	-	2	0	SLC30A3	27333686	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.237000	0.51344	2.605000	0.88082	0.555000	0.69702	AGC		0.662	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			20	142	0	0	0	1	0	20	142				
ROBO2	6092	broad.mit.edu	37	3	77671486	77671486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77671486C>T	ENST00000461745.1	+	23	4563	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	ROBO2_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1221					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGATGATGCCGACGACGAAG	0.498																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3661-3663)gcC>gcT		roundabout, axon guidance receptor, homolog 2 (Drosophila)							122.0	122.0	122.0					3																	77671486		1923	4148	6071	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77671486C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3663C>T	3.37:g.77671486C>T						ROBO2_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	p.A1221A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	23	4563	+			1221					O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.3663C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.305500	0.01353	.	.	ENSG00000185008	ENST00000475334	.	.	.	5.56	0.436	0.16549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1656	0.03836	0.1058:0.2915:0.1526:0.4501	.	.	.	.	X	53	.	.	R	+	1	2	ROBO2	77754176	0.971000	0.33674	0.854000	0.33618	0.003000	0.03518	-1.082000	0.03400	-0.148000	0.11234	-1.874000	0.00550	CGA		0.498	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		61	286	0	0	0	1	0	61	286				
CRAMP1L	57585	broad.mit.edu	37	16	1691164	1691164	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1691164A>C	ENST00000397412.3	+	6	902	c.803A>C	c.(802-804)aAg>aCg	p.K268T	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T|LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	268						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AATGCAACAAAGCTGAATGAA	0.363																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(802-804)aAg>aCg		Crm, cramped-like (Drosophila)							134.0	134.0	134.0					16																	1691164		1866	4114	5980	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1691164A>C	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.803A>C	16.37:g.1691164A>C	ENSP00000380559:p.Lys268Thr					LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T	p.K268T			Q96RY5	CRML_HUMAN			6	902	+			268					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.803A>C	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167663	0.57476	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.46	5.46	0.80206	.	0.058546	0.64402	D	0.000003	T	0.76421	0.3985	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.79485	-0.1784	9	0.87932	D	0	-21.7209	15.5282	0.75928	1.0:0.0:0.0:0.0	.	268	Q96RY5	CRML_HUMAN	T	268;268;265	.	ENSP00000293925:K268T	K	+	2	0	CRAMP1L	1631165	1.000000	0.71417	0.967000	0.41034	0.582000	0.36321	8.836000	0.92105	2.076000	0.62316	0.459000	0.35465	AAG		0.363	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			9	289	0	0	0	1	0	9	289				
NLRC3	197358	broad.mit.edu	37	16	3613437	3613437	+	RNA	SNP	G	G	A	rs370250460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3613437G>A	ENST00000301749.7	-	0	1906				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCATGGCCCGCTGGGCTGCG	0.657																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							10.0	12.0	11.0					16																	3613437		2053	4180	6233			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613437G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613437G>A						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1906	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	G	14.23	2.472651	0.43942	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.09	-1.14	0.09741	.	0.068615	0.64402	D	0.000017	D	0.89350	0.6690	.	.	.	0.23981	N	0.996276	D	0.76494	0.999	P	0.61477	0.889	D	0.84616	0.0681	9	0.87932	D	0	.	14.2232	0.65841	0.0:0.0:0.4064:0.5936	.	548	C9JLH9	.	W	501;501;501;548;483	ENSP00000301749:R501W;ENSP00000352039:R501W;ENSP00000414415:R548W;ENSP00000323897:R483W	ENSP00000301749:R501W	R	-	1	2	NLRC3	3553438	0.994000	0.37717	0.991000	0.47740	0.990000	0.78478	0.261000	0.18442	0.169000	0.19679	-0.152000	0.13540	CGG		0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		16	39	0	0	0	1	0	16	39				
PHKB	5257	broad.mit.edu	37	16	47727313	47727313	+	Silent	SNP	C	C	T	rs201377441		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47727313C>T	ENST00000323584.5	+	28	2814	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	PHKB_ENST00000299167.8_Silent_p.I930I|PHKB_ENST00000455779.1_Silent_p.I923I|PHKB_ENST00000566044.1_Silent_p.I923I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	930	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCGTCAGATCGATGGGTCTT	0.483																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2767-2769)atC>atT		phosphorylase kinase, beta							87.0	81.0	83.0					16																	47727313		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47727313C>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2790C>T	16.37:g.47727313C>T						PHKB_ENST00000299167.8_Silent_p.I930I|PHKB_ENST00000566044.1_Silent_p.I923I|PHKB_ENST00000323584.5_Silent_p.I930I	p.I923I			Q93100	KPBB_HUMAN			29	2954	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	930			Calmodulin-binding (Potential).		Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.2769C>T	CCDS10729.1																																																																																				0.483	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			35	163	0	0	0	1	0	35	163				
NDUFA13	51079	broad.mit.edu	37	19	19626064	19626064	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19626064G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.P58L|NDUFA13_ENST00000512771.3_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.P58L|NDUFA13_ENST00000503283.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CAGCTCTCGCGGCAGGAACTT	0.602																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(172-174)cCg>cTg		testis-specific serine kinase 6							59.0	53.0	55.0					19																	19626064		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19626064G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626064G>A	Exception_encountered					TSSK6_ENST00000585580.3_Missense_Mutation_p.P58L	p.P58L			Q9BXA6	TSSK6_HUMAN			1	774	-			58			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.173C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725415	0.89298	.	.	ENSG00000178093	ENST00000360913	T	0.20069	2.1	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41396	U	0.000886	T	0.20129	0.0484	N	0.10782	0.045	0.80722	D	1	P	0.51057	0.941	P	0.54060	0.741	T	0.05920	-1.0856	10	0.36615	T	0.2	.	13.7493	0.62897	0.0:0.0:1.0:0.0	.	58	Q9BXA6	TSSK6_HUMAN	L	58	ENSP00000354168:P58L	ENSP00000354168:P58L	P	-	2	0	TSSK6	19487064	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	4.371000	0.59523	2.324000	0.78689	0.306000	0.20318	CCG		0.602	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		67	267	0	0	0	1	0	67	267				
ZNF385D	79750	broad.mit.edu	37	3	21462878	21462878	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462878G>A	ENST00000281523.2	-	8	1534	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	339						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						agctgctAGAGGATTTGGTAG	0.458																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1015-1017)cCt>cTt		zinc finger protein 385D							39.0	42.0	41.0					3																	21462878		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462878G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1016C>T	3.37:g.21462878G>A	ENSP00000281523:p.Pro339Leu						p.P339L	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1534	-			339						Missense_Mutation	SNP	ENST00000281523.2	37	c.1016C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232462	0.39498	.	.	ENSG00000151789	ENST00000281523	T	0.36340	1.26	6.08	6.08	0.98989	.	0.206063	0.46442	D	0.000292	T	0.37812	0.1017	L	0.45352	1.415	0.49130	D	0.999759	B	0.21225	0.053	B	0.16722	0.016	T	0.11275	-1.0594	10	0.87932	D	0	-23.679	20.6593	0.99626	0.0:0.0:1.0:0.0	.	339	Q9H6B1	Z385D_HUMAN	L	339	ENSP00000281523:P339L	ENSP00000281523:P339L	P	-	2	0	ZNF385D	21437882	0.998000	0.40836	0.243000	0.24186	0.238000	0.25445	2.679000	0.46909	2.887000	0.99086	0.650000	0.86243	CCT		0.458	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		17	150	0	0	0	1	0	17	150				
CD109	135228	broad.mit.edu	37	6	74497138	74497138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74497138C>T	ENST00000287097.5	+	21	2631	c.2519C>T	c.(2518-2520)aCt>aTt	p.T840I	CD109_ENST00000437994.2_Missense_Mutation_p.T840I|CD109_ENST00000422508.2_Missense_Mutation_p.T763I			Q6YHK3	CD109_HUMAN	CD109 molecule	840					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTCACCCACTGCTTCTGAT	0.423																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2518-2520)aCt>aTt		CD109 molecule							106.0	103.0	104.0					6																	74497138		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74497138C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2519C>T	6.37:g.74497138C>T	ENSP00000287097:p.Thr840Ile					CD109_ENST00000422508.2_Missense_Mutation_p.T763I|CD109_ENST00000287097.5_Missense_Mutation_p.T840I	p.T840I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			21	2950	+			840					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.2519C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	4.359	0.066072	0.08388	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.21734	1.99;2.2;1.99	5.45	-2.97	0.05530	.	1.575850	0.04485	U	0.378552	T	0.03520	0.0101	L	0.28014	0.82	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.19391	0.004;0.025;0.002	T	0.38001	-0.9681	10	0.21014	T	0.42	.	2.6389	0.04965	0.0932:0.2575:0.2987:0.3506	.	763;840;840	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	840;763;840	ENSP00000388062:T840I;ENSP00000404475:T763I;ENSP00000287097:T840I	ENSP00000287097:T840I	T	+	2	0	CD109	74553859	0.001000	0.12720	0.089000	0.20774	0.724000	0.41520	-0.157000	0.10085	-0.433000	0.07286	0.650000	0.86243	ACT		0.423	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		63	353	0	0	0	1	0	63	353				
GEMIN4	50628	broad.mit.edu	37	17	650235	650235	+	Missense_Mutation	SNP	C	C	T	rs373067107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650235C>T	ENST00000319004.5	-	2	1166	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	GEMIN4_ENST00000576778.1_Missense_Mutation_p.D339N|GEMIN4_ENST00000437269.1_3'UTR	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	350					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTCAGACTGTCGCACAGCCGG	0.637																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1015-1017)Gac>Aac		gem (nuclear organelle) associated protein 4		C	ASN/ASP	2,4246		0,2,2122	64.0	69.0	67.0		1048	5.0	1.0	17		67	0,8454		0,0,4227	no	missense	GEMIN4	NM_015721.2	23	0,2,6349	TT,TC,CC		0.0,0.0471,0.0157	probably-damaging	350/1059	650235	2,12700	2124	4227	6351	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650235C>T	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1048G>A	17.37:g.650235C>T	ENSP00000321706:p.Asp350Asn					GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Missense_Mutation_p.D350N	p.D339N			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2356	-		Myeloproliferative disorder(207;0.204)	350					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.1015G>A	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.769060	0.31320	4.71E-4	0.0	ENSG00000179409	ENST00000319004	T	0.17854	2.25	5.95	4.99	0.66335	.	0.163861	0.53938	D	0.000060	T	0.19127	0.0459	M	0.64997	1.995	0.80722	D	1	B	0.20261	0.043	B	0.19391	0.025	T	0.02758	-1.1114	10	0.45353	T	0.12	-22.2074	9.6685	0.39998	0.0:0.7851:0.1413:0.0736	.	350	P57678	GEMI4_HUMAN	N	350	ENSP00000321706:D350N	ENSP00000321706:D350N	D	-	1	0	GEMIN4	596985	0.973000	0.33851	1.000000	0.80357	0.353000	0.29299	2.408000	0.44574	1.527000	0.49086	0.563000	0.77884	GAC		0.637	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		96	425	0	0	0	1	0	96	425				
ESF1	51575	broad.mit.edu	37	20	13714488	13714488	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13714488A>C	ENST00000202816.1	-	10	1937	c.1830T>G	c.(1828-1830)ggT>ggG	p.G610G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	610	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTCTTTAAGACCTGAGGAAA	0.289																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.e10-1		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							135.0	139.0	137.0					20																	13714488		2203	4299	6502	SO:0001630	splice_region_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13714488A>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1829-1T>G	20.37:g.13714488A>C							p.G610_splice	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			10	1937	-			610			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Splice_Site	SNP	ENST00000202816.1	37	c.1828_splice	CCDS13117.1																																																																																				0.289	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	Silent	101	471	0	0	0	1	0	101	471				
HIAT1	64645	broad.mit.edu	37	1	100546193	100546193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100546193G>A	ENST00000370152.3	+	11	1380	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	SASS6_ENST00000462159.1_5'Flank|RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	415					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACAAACACAAGCCCTCAGCAC	0.408																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(1243-1245)aGc>aAc		hippocampus abundant transcript 1							172.0	169.0	170.0					1																	100546193		2203	4300	6503	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100546193G>A	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1244G>A	1.37:g.100546193G>A	ENSP00000359171:p.Ser415Asn					RP4-714D9.2_ENST00000432294.1_RNA	p.S415N	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	11	1380	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	415					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.1244G>A	CCDS763.1	.	.	.	.	.	.	.	.	.	.	G	8.672	0.902999	0.17760	.	.	ENSG00000156875	ENST00000370152	T	0.80909	-1.43	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.796683	0.11231	N	0.585655	T	0.34279	0.0892	N	0.01576	-0.805	0.21220	N	0.999753	B	0.02656	0.0	B	0.04013	0.001	T	0.13388	-1.0511	10	0.11794	T	0.64	-9.2588	11.0974	0.48152	0.0:0.1286:0.7219:0.1495	.	415	Q96MC6	HIAT1_HUMAN	N	415	ENSP00000359171:S415N	ENSP00000359171:S415N	S	+	2	0	HIAT1	100318781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.722000	0.38042	2.534000	0.85438	0.555000	0.69702	AGC		0.408	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		24	678	0	0	0	1	0	24	678				
ARHGEF11	9826	broad.mit.edu	37	1	156928923	156928923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156928923G>A	ENST00000361409.2	-	15	1916	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R432W	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	392	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGCTGTTCCGCAGGCGCGAG	0.577																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(1294-1296)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 11							71.0	61.0	65.0					1																	156928923		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156928923G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1174C>T	1.37:g.156928923G>A	ENSP00000354644:p.Arg392Trp					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R392W	p.R432W	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			16	2333	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		392			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1294C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456397	0.43634	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.82803	-1.65;-1.65	4.69	3.78	0.43462	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.50627	D	0.000108	T	0.80649	0.4663	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.984	T	0.80393	-0.1401	10	0.38643	T	0.18	-19.5508	11.0799	0.48053	0.0875:0.0:0.9125:0.0	.	392;432	O15085;O15085-2	ARHGB_HUMAN;.	W	432;392	ENSP00000357177:R432W;ENSP00000354644:R392W	ENSP00000354644:R392W	R	-	1	2	ARHGEF11	155195547	1.000000	0.71417	0.810000	0.32431	0.027000	0.11550	7.354000	0.79424	1.204000	0.43247	0.491000	0.48974	CGG		0.577	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		38	135	0	0	0	1	0	38	135				
TRAF4	9618	broad.mit.edu	37	17	27075073	27075073	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27075073C>T	ENST00000262395.5	+	4	468	c.339C>T	c.(337-339)tgC>tgT	p.C113C	TRAF4_ENST00000262396.6_Silent_p.C113C|TRAF4_ENST00000444415.3_Silent_p.C113C|AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	113					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCATTCCCTGCCCTAATCGCT	0.587																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(337-339)tgC>tgT		TNF receptor-associated factor 4							89.0	90.0	90.0					17																	27075073		2203	4300	6503	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27075073C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.339C>T	17.37:g.27075073C>T						TRAF4_ENST00000262396.6_Silent_p.C113C|TRAF4_ENST00000444415.3_Silent_p.C113C	p.C113C	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		4	468	+	Lung NSC(42;0.01)		113					O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.339C>T	CCDS11243.1																																																																																				0.587	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		75	299	0	0	0	1	0	75	299				
PRUNE2	158471	broad.mit.edu	37	9	79325119	79325119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79325119G>T	ENST00000376718.3	-	8	2194	c.2071C>A	c.(2071-2073)Cca>Aca	p.P691T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P332T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	691					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGGAGCTTGGCTTATGCTCT	0.453																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(994-996)Cca>Aca		prune homolog 2 (Drosophila)							45.0	42.0	43.0					9																	79325119		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325119G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2071C>A	9.37:g.79325119G>T	ENSP00000365908:p.Pro691Thr					PRUNE2_ENST00000376718.3_Missense_Mutation_p.P691T	p.P332T			Q8WUY3	PRUN2_HUMAN			8	2194	-			691					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.994C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.007|0.007	-2.011002|-2.011002	0.00422|0.00422	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.21361	.|2.01;2.01	5.86|5.86	1.57|1.57	0.23409|0.23409	.|.	.|0.269957	.|0.26867	.|N	.|0.022094	T|T	0.10981|0.10981	0.0268|0.0268	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.18967|0.18967	-1.0320|-1.0320	5|10	.|0.29301	.|T	.|0.29	-4.4713|-4.4713	1.4712|1.4712	0.02416|0.02416	0.1602:0.3388:0.2185:0.2825|0.1602:0.3388:0.2185:0.2825	.|.	.|691	.|Q8WUY3	.|PRUN2_HUMAN	D|T	12|691;332;690	.|ENSP00000365908:P691T;ENSP00000397425:P332T	.|ENSP00000365908:P691T	A|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78514939|78514939	0.715000|0.715000	0.27946|0.27946	0.757000|0.757000	0.31301|0.31301	0.159000|0.159000	0.22180|0.22180	-0.008000|-0.008000	0.12788|0.12788	0.313000|0.313000	0.23062|0.23062	-1.251000|-1.251000	0.01509|0.01509	GCC|CCA		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		28	112	1	0	7.41945e-09	1	7.77385e-09	28	112				
PPOX	5498	broad.mit.edu	37	1	161140296	161140296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161140296G>A	ENST00000367999.4	+	10	1351	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	PPOX_ENST00000352210.5_Missense_Mutation_p.G362D|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	362					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCCCCTGGCCTCAGAGTG	0.542																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	GRCh37	CI992582	PPOX	I		c.(1084-1086)gGc>gAc		protoporphyrinogen oxidase							83.0	84.0	84.0					1																	161140296		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140296G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1085G>A	1.37:g.161140296G>A	ENSP00000356978:p.Gly362Asp					PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.G362D	p.G362D	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		10	1351	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		362					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.1085G>A	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.140231|2.140231	0.37825|0.37825	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.|D;D;D	.|0.94280	.|-3.13;-3.13;-3.39	5.42|5.42	4.51|4.51	0.55191|0.55191	.|Amine oxidase (1);	.|0.289920	.|0.38272	.|N	.|0.001745	D|D	0.91586|0.91586	0.7342|0.7342	L|L	0.41710|0.41710	1.295|1.295	0.34783|0.34783	D|D	0.734969|0.734969	.|B;B;P;B	.|0.42409	.|0.023;0.147;0.779;0.348	.|B;P;P;P	.|0.58970	.|0.046;0.546;0.849;0.694	D|D	0.91807|0.91807	0.5456|0.5456	5|10	.|0.51188	.|T	.|0.08	5.9863|5.9863	10.12|10.12	0.42614|0.42614	0.09:0.0:0.91:0.0|0.09:0.0:0.91:0.0	.|.	.|107;33;200;362	.|B4DQQ7;Q96SE3;B3KT30;P50336	.|.;.;.;PPOX_HUMAN	T|D	115;85|362;362;329;107	.|ENSP00000343943:G362D;ENSP00000356978:G362D;ENSP00000396841:G107D	.|ENSP00000343943:G362D	A|G	+|+	1|2	0|0	PPOX|PPOX	159406920|159406920	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.799000|0.799000	0.45148|0.45148	2.632000|2.632000	0.46511|0.46511	1.524000|1.524000	0.49035|0.49035	-0.157000|-0.157000	0.13467|0.13467	GCC|GGC		0.542	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		99	299	0	0	0	1	0	99	299				
API5	8539	broad.mit.edu	37	11	43357578	43357578	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43357578G>T	ENST00000531273.1	+	13	1631				API5_ENST00000455725.2_Intron|API5_ENST00000529334.1_Intron|API5_ENST00000420461.2_Intron|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000378852.3_Intron|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.R509I			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGAATATGAGAGATTAGGCA	0.363																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000534600.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1525-1527)aGa>aTa		apoptosis inhibitor 5							70.0	70.0	70.0					11																	43357578		2203	4300	6503	SO:0001627	intron_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43357578G>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1492+34G>T	11.37:g.43357578G>T						API5_ENST00000378852.3_Intron|API5_ENST00000455725.2_Intron|API5_ENST00000529334.1_Intron|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Intron|API5_ENST00000420461.2_Intron	p.R509I			Q9BZZ5	API5_HUMAN			13	1558	+			509					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.1526G>T	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998040	0.35226	.	.	ENSG00000166181	ENST00000534600	T	0.23147	1.92	5.6	2.75	0.32379	.	.	.	.	.	T	0.15609	0.0376	.	.	.	0.09310	N	1	B	0.25955	0.138	B	0.25884	0.064	T	0.29971	-0.9994	7	.	.	.	.	7.5235	0.27641	0.3369:0.0:0.6631:0.0	.	509	G3V1C3	.	I	509	ENSP00000434462:R509I	.	R	+	2	0	API5	43314154	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.029000	0.13666	0.332000	0.23536	-0.145000	0.13849	AGA		0.363	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		119	423	1	0	1.81606e-51	1	2.2538e-51	119	423				
RFX6	222546	broad.mit.edu	37	6	117199106	117199106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117199106C>T	ENST00000332958.2	+	2	387	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	124					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACACAGCTCACGCTGCAGTGG	0.468																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(370-372)aCg>aTg		regulatory factor X, 6							64.0	57.0	59.0					6																	117199106		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117199106C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.371C>T	6.37:g.117199106C>T	ENSP00000332208:p.Thr124Met						p.T124M	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			2	387	+			124					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.371C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704563	0.88924	.	.	ENSG00000185002	ENST00000332958	D	0.83419	-1.72	5.36	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.56097	D	0.000029	D	0.88145	0.6358	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88648	0.3180	10	0.87932	D	0	-17.2098	14.6252	0.68616	0.0:0.9287:0.0:0.0713	.	124	Q8HWS3	RFX6_HUMAN	M	124	ENSP00000332208:T124M	ENSP00000332208:T124M	T	+	2	0	RFX6	117305799	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	5.142000	0.64820	2.789000	0.95967	0.591000	0.81541	ACG		0.468	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		34	165	0	0	0	1	0	34	165				
CATSPER1	117144	broad.mit.edu	37	11	65790401	65790401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65790401C>T	ENST00000312106.5	-	2	1485	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	450					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATGAAAGTTTCAAAGGCCAAG	0.537											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1348-1350)Gaa>Aaa		cation channel, sperm associated 1							110.0	107.0	108.0					11																	65790401		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65790401C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1348G>A	11.37:g.65790401C>T	ENSP00000309052:p.Glu450Lys		OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.E450K	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			2	1485	-			450					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1348G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423332	0.83559	.	.	ENSG00000175294	ENST00000312106	D	0.97642	-4.47	5.62	4.71	0.59529	.	0.000000	0.33272	N	0.005097	D	0.95834	0.8644	L	0.47190	1.495	0.28563	N	0.911045	P	0.37573	0.6	P	0.45343	0.477	D	0.92427	0.5950	10	0.44086	T	0.13	-18.6629	11.9808	0.53119	0.1731:0.8269:0.0:0.0	.	450	Q8NEC5	CTSR1_HUMAN	K	450	ENSP00000309052:E450K	ENSP00000309052:E450K	E	-	1	0	CATSPER1	65546977	1.000000	0.71417	0.138000	0.22173	0.034000	0.12701	3.104000	0.50306	1.372000	0.46190	0.563000	0.77884	GAA		0.537	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		32	436	0	0	0	1	0	32	436				
NEB	4703	broad.mit.edu	37	2	152419185	152419185	+	Silent	SNP	C	C	T	rs368876425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152419185C>T	ENST00000172853.10	-	92	13875	c.13728G>A	c.(13726-13728)acG>acA	p.T4576T	NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000397345.3_Silent_p.T6277T|NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000427231.2_Silent_p.T6277T			P20929	NEBU_HUMAN	nebulin	4576					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAGAAGAGACGTCCACTGGT	0.483																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18829-18831)acG>acA		nebulin		C	,,	1,4051		0,1,2025	127.0	120.0	122.0		18831,18831,13728	-11.5	0.0	2		122	0,8330		0,0,4165	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,6190	TT,TC,CC		0.0,0.0247,0.0081	,,	6277/8526,6277/8526,4576/6670	152419185	1,12381	2026	4165	6191	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152419185C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13728G>A	2.37:g.152419185C>T						NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000172853.10_Silent_p.T4576T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000427231.2_Silent_p.T6277T	p.T6277T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	120	19033	-			6286					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18831G>A																																																																																					0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		13	71	0	0	0	1	0	13	71				
SLC25A29	123096	broad.mit.edu	37	14	100759254	100759254	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100759254A>G	ENST00000359232.3	-	4	578	c.278T>C	c.(277-279)cTc>cCc	p.L93P	SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000392908.3_Silent_p.P78P|SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000554912.1_Missense_Mutation_p.L27P	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	93						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GAACTGGTTGAGGGGCGAGTC	0.706																																						ENST00000554912.1																			0				NS(1)|endometrium(1)|ovary(1)	3						c.(79-81)cTc>cCc		solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	L-Carnitine(DB00583)						9.0	12.0	11.0					14																	100759254		2127	4178	6305	SO:0001583	missense	123096					integral to membrane|mitochondrial inner membrane	binding	g.chr14:100759254A>G	AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"""Solute carriers"""	20116	protein-coding gene	gene with protein product		615064	"""chromosome 14 open reading frame 69"", ""solute carrier family 25, member 29"""	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.278T>C	14.37:g.100759254A>G	ENSP00000352167:p.Leu93Pro					SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000392908.3_Silent_p.P78P|SLC25A29_ENST00000359232.3_Missense_Mutation_p.L93P	p.L27P			Q8N8R3	MCATL_HUMAN			2	3367	-		Melanoma(154;0.152)	93					A3KMR5|Q541V0	Missense_Mutation	SNP	ENST00000359232.3	37	c.80T>C	CCDS32156.1	.	.	.	.	.	.	.	.	.	.	A	9.282	1.048416	0.19827	.	.	ENSG00000197119	ENST00000359232;ENST00000554912;ENST00000539621;ENST00000556505;ENST00000555927;ENST00000554291	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.99	4.99	0.66335	Mitochondrial carrier domain (2);	0.498441	0.20697	N	0.087352	T	0.79592	0.4472	L	0.39326	1.205	0.80722	D	1	P	0.38788	0.647	P	0.46419	0.516	T	0.77707	-0.2487	10	0.33940	T	0.23	-8.3233	14.6953	0.69118	1.0:0.0:0.0:0.0	.	93	Q8N8R3	MCATL_HUMAN	P	93;27;27;27;27;27	ENSP00000352167:L93P;ENSP00000450913:L27P;ENSP00000442985:L27P;ENSP00000452446:L27P;ENSP00000452078:L27P;ENSP00000452324:L27P	ENSP00000352167:L93P	L	-	2	0	SLC25A29	99829007	0.989000	0.36119	0.675000	0.29917	0.023000	0.10783	2.824000	0.48088	1.883000	0.54544	0.460000	0.39030	CTC		0.706	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3			15	73	0	0	0	1	0	15	73				
PBX1	5087	broad.mit.edu	37	1	164789358	164789358	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164789358C>T	ENST00000420696.2	+	7	1235	c.1047C>T	c.(1045-1047)agC>agT	p.S349S	PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000540246.1_Silent_p.S244S|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000559240.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	349					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGTTCATGAGCGTGCAGTCAC	0.483			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1045-1047)agC>agT		pre-B-cell leukemia homeobox 1							93.0	92.0	92.0					1																	164789358		2203	4300	6503	SO:0001819	synonymous_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164789358C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1047C>T	1.37:g.164789358C>T						PBX1_ENST00000540246.1_Silent_p.S244S|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000401534.1_Intron	p.S349S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			7	1235	+			349					B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	37	c.1047C>T	CCDS1246.1																																																																																				0.483	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		59	387	0	0	0	1	0	59	387				
SPNS2	124976	broad.mit.edu	37	17	4436361	4436361	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436361G>A	ENST00000329078.3	+	7	1235	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	342					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TACCTGCACCGCGCCCAAGTT	0.701																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(1024-1026)cGc>cAc		spinster homolog 2 (Drosophila)							28.0	29.0	29.0					17																	4436361		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4436361G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1025G>A	17.37:g.4436361G>A	ENSP00000333292:p.Arg342His						p.R342H	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			7	1235	+			342					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.1025G>A	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662842	0.47572	.	.	ENSG00000183018	ENST00000329078	T	0.59083	0.29	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.46741	1.465	0.53005	D	0.999968	P	0.34662	0.462	B	0.33254	0.16	T	0.46512	-0.9186	10	0.18276	T	0.48	.	16.29	0.82742	0.0:0.0:1.0:0.0	.	342	Q8IVW8	SPNS2_HUMAN	H	342	ENSP00000333292:R342H	ENSP00000333292:R342H	R	+	2	0	SPNS2	4383110	1.000000	0.71417	0.986000	0.45419	0.164000	0.22412	7.614000	0.82996	2.189000	0.69895	0.313000	0.20887	CGC		0.701	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			29	149	0	0	0	1	0	29	149				
ATIC	471	broad.mit.edu	37	2	216191624	216191624	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216191624T>C	ENST00000236959.9	+	7	937	c.611T>C	c.(610-612)aTg>aCg	p.M204T	ATIC_ENST00000435675.1_Missense_Mutation_p.M203T|ATIC_ENST00000540518.1_Missense_Mutation_p.M145T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	204					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GTATCTCAGATGCCCTTGAGA	0.473			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(607-609)aTg>aCg		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						172.0	156.0	161.0					2																	216191624		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216191624T>C		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.611T>C	2.37:g.216191624T>C	ENSP00000236959:p.Met204Thr					ATIC_ENST00000236959.9_Missense_Mutation_p.M204T|ATIC_ENST00000540518.1_Missense_Mutation_p.M145T	p.M203T			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	6	999	+		Renal(323;0.229)	204					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.608T>C	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779289	0.49891	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.86	5.86	0.93980	Cytidine deaminase-like (1);	0.250429	0.47852	D	0.000213	T	0.73024	0.3534	L	0.37466	1.105	0.48395	D	0.999647	B;B	0.20671	0.027;0.047	B;B	0.37550	0.142;0.253	T	0.70371	-0.4890	10	0.51188	T	0.08	-9.2562	15.9283	0.79639	0.0:0.0:0.0:1.0	.	203;204	E9PBU3;P31939	.;PUR9_HUMAN	T	204;145;203;145	ENSP00000236959:M204T;ENSP00000440523:M145T;ENSP00000415935:M203T;ENSP00000402393:M145T	ENSP00000236959:M204T	M	+	2	0	ATIC	215899869	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	7.903000	0.87398	2.240000	0.73641	0.533000	0.62120	ATG		0.473	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		13	797	0	0	0	1	0	13	797				
SEMA6A	57556	broad.mit.edu	37	5	115813812	115813812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115813812C>T	ENST00000343348.6	-	14	2253	c.1466G>A	c.(1465-1467)gGc>gAc	p.G489D	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	489	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGCTGCATGCCCATGATCCT	0.458																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1465-1467)gGc>gAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							99.0	97.0	97.0					5																	115813812		2040	4200	6240	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115813812C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1466G>A	5.37:g.115813812C>T	ENSP00000345512:p.Gly489Asp					SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	p.G489D	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	14	2253	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	489			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.1466G>A	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.380670|4.380670	0.82792|0.82792	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000282394;ENST00000510263	.|T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09	5.98|5.98	5.98|5.98	0.97165|0.97165	.|WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	.|0.048510	.|0.85682	.|D	.|0.000000	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.66939|0.66939	2.045|2.045	0.35680|0.35680	D|D	0.814023|0.814023	.|D;P;P;B	.|0.53312	.|0.959;0.698;0.949;0.378	.|P;B;P;B	.|0.58454	.|0.839;0.305;0.79;0.138	T|T	0.50491|0.50491	-0.8822|-0.8822	5|10	.|0.87932	.|D	.|0	.|.	16.595|16.595	0.84794|0.84794	0.0:0.8699:0.1301:0.0|0.0:0.8699:0.1301:0.0	.|.	.|489;33;489;21	.|Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3	.|SEM6A_HUMAN;.;.;.	T|D	59|489;489;21;489	.|ENSP00000345512:G489D;ENSP00000257414:G489D;ENSP00000282394:G21D;ENSP00000424388:G489D	.|ENSP00000257414:G489D	A|G	-|-	1|2	0|0	SEMA6A|SEMA6A	115841711|115841711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.891000|4.891000	0.63185|0.63185	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.458	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		63	245	0	0	0	1	0	63	245				
PODXL	5420	broad.mit.edu	37	7	131196124	131196124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131196124C>T	ENST00000378555.3	-	2	416	c.169G>A	c.(169-171)Gct>Act	p.A57T	PODXL_ENST00000541194.1_Missense_Mutation_p.A59T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T|PODXL_ENST00000322985.9_Missense_Mutation_p.A57T			O00592	PODXL_HUMAN	podocalyxin-like	57	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTATCTGTAGCCATGATGGTG	0.512																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(175-177)Gct>Act		podocalyxin-like							192.0	190.0	191.0					7																	131196124		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131196124C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.169G>A	7.37:g.131196124C>T	ENSP00000367817:p.Ala57Thr					PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T|PODXL_ENST00000378555.3_Missense_Mutation_p.A57T|PODXL_ENST00000322985.9_Missense_Mutation_p.A57T	p.A59T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	432	-	Melanoma(18;0.162)		57			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.175G>A	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687178	0.14973	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	2.34	-4.67	0.03319	.	.	.	.	.	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.002	T	0.13791	-1.0496	9	0.27785	T	0.31	0.3962	4.1262	0.10128	0.0:0.265:0.3281:0.4069	.	57;57	O00592-2;O00592	.;PODXL_HUMAN	T	59;57;47;57;57	ENSP00000440518:A59T;ENSP00000442655:A57T;ENSP00000367817:A57T;ENSP00000319782:A57T	ENSP00000319782:A57T	A	-	1	0	PODXL	130846664	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.318000	0.00514	-1.236000	0.02542	-0.451000	0.05528	GCT		0.512	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		64	368	0	0	0	1	0	64	368				
FUT2	2524	broad.mit.edu	37	19	49206490	49206490	+	Missense_Mutation	SNP	G	G	A	rs112722916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49206490G>A	ENST00000425340.2	+	2	394	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	93					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGGGCGGCCCGCCTTCATCCC	0.652																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(277-279)Gcc>Acc		fucosyltransferase 2 (secretor status included)							28.0	28.0	28.0					19																	49206490		2202	4299	6501	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206490G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.277G>A	19.37:g.49206490G>A	ENSP00000387498:p.Ala93Thr					FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	394	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	93					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.277G>A	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956907	0.53293	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96856	-4.15;-4.15;-4.15	4.19	4.19	0.49359	.	.	.	.	.	D	0.97961	0.9329	M	0.84326	2.69	0.35320	D	0.784649	D	0.89917	1.0	D	0.97110	1.0	D	0.99970	1.1963	9	0.66056	D	0.02	.	14.4048	0.67075	0.0:0.0:1.0:0.0	.	93	Q10981	FUT2_HUMAN	T	93	ENSP00000430227:A93T;ENSP00000387498:A93T;ENSP00000375748:A93T	ENSP00000375748:A93T	A	+	1	0	FUT2	53898302	1.000000	0.71417	0.894000	0.35097	0.049000	0.14656	4.284000	0.58983	2.037000	0.60232	0.549000	0.68633	GCC		0.652	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		39	201	0	0	0	1	0	39	201				
ERICH3	127254	broad.mit.edu	37	1	75036989	75036989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75036989C>A	ENST00000326665.5	-	14	4623	c.4405G>T	c.(4405-4407)Gga>Tga	p.G1469*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1469	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCAGCTGCTCCTGTCTCCTGC	0.582																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4405-4407)Gga>Tga		chromosome 1 open reading frame 173							122.0	107.0	112.0					1																	75036989		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75036989C>A																												ENST00000326665.5:c.4405G>T	1.37:g.75036989C>A	ENSP00000322609:p.Gly1469*					C1orf173_ENST00000433746.2_5'UTR	p.G1469*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4623	-			1469			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.4405G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	43	9.919568	0.99295	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.40158	D	0.977036	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.6351	10.9771	0.47472	0.0:0.9068:0.0:0.0932	.	.	.	.	X	1469	.	ENSP00000322609:G1469X	G	-	1	0	C1orf173	74809577	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	0.475000	0.22164	0.995000	0.38917	-0.254000	0.11334	GGA		0.582	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			149	644	1	0	1.50172e-47	1	1.84921e-47	149	644				
PALB2	79728	broad.mit.edu	37	16	23641691	23641691	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23641691T>G	ENST00000261584.4	-	5	1936	c.1784A>C	c.(1783-1785)gAt>gCt	p.D595A		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	595					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCATTCCATCCCTATGAAA	0.393			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1783-1785)gAt>gCt	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							66.0	58.0	61.0					16																	23641691		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23641691T>G		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1784A>C	16.37:g.23641691T>G	ENSP00000261584:p.Asp595Ala						p.D595A	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	1936	-			595					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1784A>C	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	9.184	1.024334	0.19433	.	.	ENSG00000083093	ENST00000261584	T	0.15139	2.45	5.89	3.65	0.41850	.	1.087770	0.06976	N	0.818945	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	B	0.23249	0.082	B	0.28011	0.085	T	0.38156	-0.9674	10	0.59425	D	0.04	-0.2254	7.4692	0.27338	0.0:0.2393:0.0:0.7607	.	595	Q86YC2	PALB2_HUMAN	A	595	ENSP00000261584:D595A	ENSP00000261584:D595A	D	-	2	0	PALB2	23549192	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.219000	0.32479	0.475000	0.27415	-0.250000	0.11733	GAT		0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		21	263	0	0	0	1	0	21	263				
ZNF256	10172	broad.mit.edu	37	19	58452630	58452630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58452630C>A	ENST00000282308.3	-	3	1742	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	516					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCCTTTCTCCAGTGTGA	0.463																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1546-1548)Gaa>Taa		zinc finger protein 256							82.0	77.0	79.0					19																	58452630		2203	4300	6503	SO:0001587	stop_gained	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452630C>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1546G>T	19.37:g.58452630C>A	ENSP00000282308:p.Glu516*					ZNF256_ENST00000598928.1_3'UTR	p.E516*	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1742	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	516					B2RA92|Q53Y85|Q9BV71	Nonsense_Mutation	SNP	ENST00000282308.3	37	c.1546G>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	39	7.808358	0.98501	.	.	ENSG00000152454	ENST00000282308	.	.	.	2.66	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4272	0.32735	0.0:0.8724:0.0:0.1276	.	.	.	.	X	516	.	ENSP00000282308:E516X	E	-	1	0	ZNF256	63144442	0.000000	0.05858	0.006000	0.13384	0.969000	0.65631	0.933000	0.28897	0.434000	0.26340	0.467000	0.42956	GAA		0.463	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			57	348	1	0	5.99346e-17	1	6.60109e-17	57	348				
KRT76	51350	broad.mit.edu	37	12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T	rs575967584		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15710	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(166-168)cGc>cAc		keratin 76							79.0	101.0	94.0					12																	53170909		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170909C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.167G>A	12.37:g.53170909C>T	ENSP00000330101:p.Arg56His						p.R56H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	220	-			56			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.167G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.910085	0.33721	.	.	ENSG00000185069	ENST00000332411	D	0.85702	-2.02	4.47	-4.05	0.03998	.	0.938675	0.08869	N	0.881819	T	0.78509	0.4294	L	0.53729	1.69	0.19300	N	0.999972	B	0.13594	0.008	B	0.06405	0.002	T	0.64179	-0.6468	10	0.56958	D	0.05	.	7.6108	0.28129	0.1102:0.3299:0.0:0.5599	.	56	Q01546	K22O_HUMAN	H	56	ENSP00000330101:R56H	ENSP00000330101:R56H	R	-	2	0	KRT76	51457176	0.000000	0.05858	0.033000	0.17914	0.907000	0.53573	-0.101000	0.10973	-0.905000	0.03871	0.555000	0.69702	CGC		0.672	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		15	837	0	0	0	1	0	15	837				
MUC3A	4584	broad.mit.edu	37	7	100551363	100551363	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100551363G>T	ENST00000319509.7	+	1	114	c.114G>T	c.(112-114)ccG>ccT	p.P38P				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1703					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGACATCCCGACCACAAGCC	0.507																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(112-114)ccG>ccT		mucin 3A, cell surface associated							153.0	147.0	149.0					7																	100551363		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100551363G>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.114G>T	7.37:g.100551363G>T							p.P38P							1	114	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.114G>T																																																																																					0.507	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		97	434	1	0	1.2711e-46	1	1.5624e-46	97	434				
SOCS6	9306	broad.mit.edu	37	18	67992860	67992860	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67992860A>C	ENST00000397942.3	+	2	1272	c.956A>C	c.(955-957)aAt>aCt	p.N319T	SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	319					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAATGCAGAATAATCAAATC	0.502																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(955-957)aAt>aCt		suppressor of cytokine signaling 6							77.0	73.0	75.0					18																	67992860		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992860A>C	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.956A>C	18.37:g.67992860A>C	ENSP00000381034:p.Asn319Thr					SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	p.N319T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1272	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	319					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.956A>C	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	8.832	0.940237	0.18281	.	.	ENSG00000170677	ENST00000397942	T	0.26223	1.75	5.08	1.63	0.23807	.	0.292022	0.31177	N	0.008102	T	0.10937	0.0267	N	0.11560	0.145	0.34538	D	0.709975	B	0.02656	0.0	B	0.04013	0.001	T	0.18681	-1.0329	10	0.25106	T	0.35	-6.9417	5.9643	0.19316	0.6703:0.169:0.1607:0.0	.	319	O14544	SOCS6_HUMAN	T	319	ENSP00000381034:N319T	ENSP00000381034:N319T	N	+	2	0	SOCS6	66143840	0.982000	0.34865	0.169000	0.22859	0.978000	0.69477	1.537000	0.36083	0.057000	0.16193	0.459000	0.35465	AAT		0.502	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			72	315	0	0	0	1	0	72	315				
HAGH	3029	broad.mit.edu	37	16	1866938	1866938	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1866938C>T	ENST00000397356.3	-	7	1109	c.703G>A	c.(703-705)Gag>Aag	p.E235K	HAGH_ENST00000455446.2_Nonsense_Mutation_p.W198*|HAGH_ENST00000566709.1_Missense_Mutation_p.E187K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	235					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTGCCGGGCTCCACGTGGCGT	0.627																																					Pancreas(55;1048 1176 25227 40124 41333)	ENST00000455446.2																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(592-594)tgG>tgA		hydroxyacylglutathione hydrolase	Glutathione(DB00143)						101.0	84.0	90.0					16																	1866938		2199	4300	6499	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1866938C>T	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.703G>A	16.37:g.1866938C>T	ENSP00000380514:p.Glu235Lys					HAGH_ENST00000566709.1_Missense_Mutation_p.E187K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K|HAGH_ENST00000397356.3_Missense_Mutation_p.E235K	p.W198*			Q16775	GLO2_HUMAN			6	640	-		Hepatocellular(780;0.00335)	0					A8K290|B4DP33|B4DRA7|E7EN93	Nonsense_Mutation	SNP	ENST00000397356.3	37	c.594G>A	CCDS10447.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.675775|5.675775	0.96764|0.96764	.|.	.|.	ENSG00000063854|ENSG00000063854	ENST00000397356;ENST00000397353|ENST00000455446	D;D|.	0.96041|.	-3.89;-3.89|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87305|.	0.6144|.	H|H	0.95611|0.95611	3.695|3.695	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.989|.	D|.	0.91263|.	0.5038|.	10|.	0.87932|0.72032	D|D	0|0.01	-1.0464|-1.0464	17.2325|17.2325	0.86988|0.86988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs35956038|rs35956038	187;235|.	Q16775-2;Q16775|.	.;GLO2_HUMAN|.	K|X	235;187|198	ENSP00000380514:E235K;ENSP00000380511:E187K|.	ENSP00000380511:E187K|ENSP00000406552:W198X	E|W	-|-	1|3	0|0	HAGH|HAGH	1806939|1806939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.767000|0.767000	0.43475|0.43475	7.442000|7.442000	0.80503|0.80503	2.313000|2.313000	0.78055|0.78055	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.627	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		35	179	0	0	0	1	0	35	179				
CCKAR	886	broad.mit.edu	37	4	26483316	26483316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483316C>A	ENST00000295589.3	-	5	1425	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	411					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GACAGAGAGGCTCCTGTGGTC	0.667																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1231-1233)Gcc>Tcc		cholecystokinin A receptor	Ceruletide(DB00403)						98.0	98.0	98.0					4																	26483316		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483316C>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1231G>T	4.37:g.26483316C>A	ENSP00000295589:p.Ala411Ser						p.A411S	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1425	-		Breast(46;0.0503)	411					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.1231G>T	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156622	0.57259	.	.	ENSG00000163394	ENST00000295589	T	0.52754	0.65	5.26	5.26	0.73747	.	0.267689	0.37136	N	0.002234	T	0.59376	0.2189	M	0.74258	2.255	0.37303	D	0.908806	D	0.55605	0.972	P	0.53102	0.718	T	0.60934	-0.7164	10	0.09084	T	0.74	.	18.8577	0.92259	0.0:1.0:0.0:0.0	.	411	P32238	CCKAR_HUMAN	S	411	ENSP00000295589:A411S	ENSP00000295589:A411S	A	-	1	0	CCKAR	26092414	1.000000	0.71417	0.802000	0.32245	0.053000	0.15095	6.257000	0.72480	2.452000	0.82932	0.563000	0.77884	GCC		0.667	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			89	748	1	0	3.60193e-44	1	4.40587e-44	89	748				
ABCA1	19	broad.mit.edu	37	9	107591298	107591298	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107591298G>A	ENST00000374736.3	-	15	2408	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	672					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCATGATCCGCATGGTCTCT	0.527																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2014-2016)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						148.0	114.0	125.0					9																	107591298		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107591298G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2014C>T	9.37:g.107591298G>A	ENSP00000363868:p.Arg672Trp					ABCA1_ENST00000494467.1_5'UTR	p.R672W	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	15	2408	-			672					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2014C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211998	0.79240	.	.	ENSG00000165029	ENST00000374736	D	0.84660	-1.88	6.02	4.03	0.46877	.	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94063	0.7328	10	0.87932	D	0	.	12.6248	0.56623	0.0:0.0:0.4481:0.5519	.	672	O95477	ABCA1_HUMAN	W	672	ENSP00000363868:R672W	ENSP00000363868:R672W	R	-	1	2	ABCA1	106631119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.208000	0.51114	1.549000	0.49425	0.655000	0.94253	CGG		0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		53	228	0	0	0	1	0	53	228				
COL24A1	255631	broad.mit.edu	37	1	86590924	86590924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590924C>A	ENST00000370571.2	-	3	1461	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	365					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGCTAAATTTCTCTTTGGTAT	0.398																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1093-1095)gaG>gaT		collagen, type XXIV, alpha 1							160.0	140.0	146.0					1																	86590924		1925	4124	6049	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590924C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1095G>T	1.37:g.86590924C>A	ENSP00000359603:p.Glu365Asp					COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	p.E365D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1461	-			365					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1095G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	0.738	-0.777566	0.02929	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.45	1.25	0.21368	.	0.372941	0.19618	N	0.109968	T	0.68339	0.2990	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.58912	-0.7552	10	0.13108	T	0.6	.	2.3708	0.04330	0.2633:0.4555:0.1282:0.153	.	365;365	F8WDM8;Q17RW2	.;COOA1_HUMAN	D	365	ENSP00000359603:E365D;ENSP00000392531:E365D	ENSP00000359603:E365D	E	-	3	2	COL24A1	86363512	0.001000	0.12720	0.152000	0.22495	0.217000	0.24651	0.072000	0.14617	-0.020000	0.14032	0.563000	0.77884	GAG		0.398	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		31	330	1	0	2.61193e-14	1	2.83483e-14	31	330				
PCSK5	5125	broad.mit.edu	37	9	78973444	78973444	+	Missense_Mutation	SNP	G	G	A	rs141281372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78973444G>A	ENST00000545128.1	+	37	5727	c.5189G>A	c.(5188-5190)cGa>cAa	p.R1730Q		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1730					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCATCCTTCGAACAAGCAAG	0.458													G|||	7	0.00139776	0.0045	0.0	5008	,	,		17970	0.0		0.001	False		,,,				2504	0.0					ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(5188-5190)cGa>cAa		proprotein convertase subtilisin/kexin type 5		G	GLN/ARG	10,1742		0,10,866	98.0	87.0	90.0		5189	-1.0	0.0	9	dbSNP_134	90	0,3982		0,0,1991	yes	missense	PCSK5	NM_001190482.1	43	0,10,2857	AA,AG,GG		0.0,0.5708,0.1744	benign	1730/1861	78973444	10,5724	876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78973444G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5189G>A	9.37:g.78973444G>A	ENSP00000446280:p.Arg1730Gln						p.R1730Q	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			37	5727	+			0					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.5189G>A	CCDS55320.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	G	8.128	0.782376	0.16189	0.005708	0.0	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.47177	0.85;1.7	5.88	-1.04	0.10068	.	1.053850	0.07439	N	0.896912	T	0.18882	0.0453	N	0.16307	0.4	0.09310	N	1	.	.	.	.	.	.	T	0.17561	-1.0365	8	0.11794	T	0.64	2.0E-4	5.9035	0.18980	0.3566:0.2857:0.3577:0.0	.	.	.	.	Q	1730;1460;1430	ENSP00000446280:R1730Q;ENSP00000411654:R1430Q	ENSP00000365945:R1460Q	R	+	2	0	PCSK5	78163264	0.000000	0.05858	0.005000	0.12908	0.100000	0.18952	0.025000	0.13577	-0.510000	0.06523	-0.266000	0.10368	CGA		0.458	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				48	188	0	0	0	1	0	48	188				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			12	504	0	0	0	1	0	12	504				
TLL2	7093	broad.mit.edu	37	10	98182405	98182405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98182405C>T	ENST00000357947.3	-	6	943	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	240	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCGTGAGCCACAATGCCAAAC	0.547																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(718-720)Gtg>Atg		tolloid-like 2							185.0	142.0	157.0					10																	98182405		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98182405C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.718G>A	10.37:g.98182405C>T	ENSP00000350630:p.Val240Met					TLL2_ENST00000469598.1_5'UTR	p.V240M	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	6	943	-		Colorectal(252;0.0846)	240			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.718G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286272	0.95517	.	.	ENSG00000095587	ENST00000357947	T	0.68331	-0.32	5.64	5.64	0.86602	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.41097	D	0.000949	D	0.85159	0.5633	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86596	0.1863	10	0.54805	T	0.06	.	18.6895	0.91578	0.0:1.0:0.0:0.0	.	240	Q9Y6L7	TLL2_HUMAN	M	240	ENSP00000350630:V240M	ENSP00000350630:V240M	V	-	1	0	TLL2	98172395	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.768000	0.85345	2.657000	0.90304	0.655000	0.94253	GTG		0.547	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			15	380	0	0	0	1	0	15	380				
SYNE1	23345	broad.mit.edu	37	6	152462355	152462355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152462355G>A	ENST00000367255.5	-	139	25830	c.25229C>T	c.(25228-25230)aCc>aTc	p.T8410I	SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8410					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGGTTTCGGTACTATGCAG	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25228-25230)aCc>aTc		spectrin repeat containing, nuclear envelope 1							184.0	157.0	166.0					6																	152462355		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152462355G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25229C>T	6.37:g.152462355G>A	ENSP00000356224:p.Thr8410Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I	p.T8410I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	139	25830	-		Ovarian(120;0.0955)	8410					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25229C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035821	0.54896	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.54071	0.68;4.82;1.7;0.7;0.59;0.69;0.77;2.74;1.85;4.83	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000029	T	0.68026	0.2956	M	0.74881	2.28	0.40134	D	0.97675	D;D;D;D;B	0.71674	0.996;0.996;0.998;0.996;0.399	D;D;D;D;B	0.71414	0.94;0.94;0.973;0.94;0.265	T	0.64232	-0.6456	10	0.37606	T	0.19	.	20.1277	0.97990	0.0:0.0:1.0:0.0	.	8410;8410;8362;8362;612	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	8410;565;1056;8362;8410;8362;8022;2934;595;590;1355;588	ENSP00000356224:T8410I;ENSP00000441052:T565I;ENSP00000356226:T1056I;ENSP00000396024:T8362I;ENSP00000265368:T8410I;ENSP00000390975:T8362I;ENSP00000341887:T8022I;ENSP00000349276:T2934I;ENSP00000356220:T1355I;ENSP00000346701:T588I	ENSP00000265368:T8410I	T	-	2	0	SYNE1	152504048	1.000000	0.71417	0.039000	0.18376	0.534000	0.34807	6.160000	0.71862	2.755000	0.94549	0.563000	0.77884	ACC		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		96	491	0	0	0	1	0	96	491				
KDM4A	9682	broad.mit.edu	37	1	44163674	44163674	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163674A>C	ENST00000372396.3	+	19	2965	c.2831A>C	c.(2830-2832)gAg>gCg	p.E944A	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	944	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTTTATCCTGAGGACATAGTG	0.498																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2830-2832)gAg>gCg		lysine (K)-specific demethylase 4A							101.0	98.0	99.0					1																	44163674		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44163674A>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2831A>C	1.37:g.44163674A>C	ENSP00000361473:p.Glu944Ala						p.E944A	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			19	2965	+			944			Tudor 1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2831A>C	CCDS491.1	.	.	.	.	.	.	.	.	.	.	A	33	5.263999	0.95399	.	.	ENSG00000066135	ENST00000372396	T	0.20598	2.06	6.08	6.08	0.98989	Tudor domain (1);	0.043479	0.85682	D	0.000000	T	0.32224	0.0822	M	0.80982	2.52	0.80722	D	1	P	0.52316	0.952	B	0.41860	0.368	T	0.31081	-0.9956	10	0.66056	D	0.02	-26.9569	16.6438	0.85155	1.0:0.0:0.0:0.0	.	944	O75164	KDM4A_HUMAN	A	944	ENSP00000361473:E944A	ENSP00000361473:E944A	E	+	2	0	KDM4A	43936261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GAG		0.498	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		66	235	0	0	0	1	0	66	235				
GTF3C1	2975	broad.mit.edu	37	16	27481690	27481690	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27481690G>T	ENST00000356183.4	-	31	4568	c.4553C>A	c.(4552-4554)aCc>aAc	p.T1518N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1518					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGTGCAGATGGTGCTTGGAAA	0.498																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4552-4554)aCc>aAc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							115.0	124.0	121.0					16																	27481690		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481690G>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4553C>A	16.37:g.27481690G>T	ENSP00000348510:p.Thr1518Asn					GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	p.T1518N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			31	4568	-			1518					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4553C>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658758	0.67586	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22945	1.93	5.57	5.57	0.84162	.	0.120412	0.64402	D	0.000017	T	0.38108	0.1028	M	0.65975	2.015	0.31874	N	0.619404	P;D	0.53312	0.732;0.959	B;P	0.48030	0.202;0.564	T	0.42965	-0.9420	10	0.33940	T	0.23	-12.9464	19.1631	0.93543	0.0:0.0:1.0:0.0	.	1518;1518	Q12789;Q12789-3	TF3C1_HUMAN;.	N	1518;1514	ENSP00000348510:T1518N	ENSP00000348510:T1518N	T	-	2	0	GTF3C1	27389191	1.000000	0.71417	0.822000	0.32727	0.979000	0.70002	6.373000	0.73128	2.618000	0.88619	0.591000	0.81541	ACC		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		26	919	1	0	5.61819e-17	1	6.18885e-17	26	919				
PALM	5064	broad.mit.edu	37	19	746669	746669	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746669C>A	ENST00000338448.5	+	9	1065	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.P296H	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	340					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCCAAGGAGCCTGCACCACCC	0.667																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(886-888)cCt>cAt		paralemmin							26.0	23.0	24.0					19																	746669		2201	4300	6501	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746669C>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.1019C>A	19.37:g.746669C>A	ENSP00000341911:p.Pro340His					PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.P340H	p.P296H	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1081	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	340					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.887C>A	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306653	0.40795	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.17054	2.3;2.3	4.72	4.72	0.59763	.	0.620673	0.15422	U	0.263170	T	0.22742	0.0549	M	0.72118	2.19	0.30887	N	0.730813	B;B	0.22746	0.074;0.053	B;B	0.22152	0.022;0.038	T	0.08513	-1.0718	10	0.54805	T	0.06	-9.4528	12.4245	0.55538	0.1799:0.8201:0.0:0.0	.	296;340	O75781-2;O75781	.;PALM_HUMAN	H	340;296;205	ENSP00000341911:P340H;ENSP00000264560:P296H	ENSP00000264560:P296H	P	+	2	0	PALM	697669	0.000000	0.05858	0.761000	0.31378	0.168000	0.22595	1.022000	0.30052	2.154000	0.67381	0.462000	0.41574	CCT		0.667	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		28	106	1	0	3.73148e-12	1	3.99992e-12	28	106				
CSE1L	1434	broad.mit.edu	37	20	47691952	47691952	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47691952T>G	ENST00000262982.2	+	12	1353	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K|CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	410					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTTATGTTAATTCCATGCTGC	0.428																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1228-1230)aaT>aaG		CSE1 chromosome segregation 1-like (yeast)							136.0	129.0	131.0					20																	47691952		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47691952T>G	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1230T>G	20.37:g.47691952T>G	ENSP00000262982:p.Asn410Lys					CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K|CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K	p.N410K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		12	1353	+			410					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1230T>G	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	T	9.525	1.109234	0.20714	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.65916	-0.18;-0.18;-0.18	5.68	3.35	0.38373	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.083086	0.85682	D	0.000000	T	0.42562	0.1208	L	0.31476	0.935	0.58432	D	0.99999	B;B;B;B;B	0.18968	0.002;0.002;0.016;0.032;0.006	B;B;B;B;B	0.16722	0.007;0.012;0.016;0.016;0.012	T	0.15321	-1.0441	10	0.07325	T	0.83	-24.4379	8.1045	0.30877	0.0:0.3166:0.0:0.6834	.	99;193;354;354;410	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	K	410;193;354	ENSP00000262982:N410K;ENSP00000446477:N193K;ENSP00000379495:N354K	ENSP00000262982:N410K	N	+	3	2	CSE1L	47125359	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.550000	0.45811	0.403000	0.25479	-0.366000	0.07423	AAT		0.428	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		105	400	0	0	0	1	0	105	400				
IGSF5	150084	broad.mit.edu	37	21	41137582	41137582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41137582G>A	ENST00000380588.4	+	3	324	c.221G>A	c.(220-222)aGt>aAt	p.S74N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	74	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGGGCTCTCAGTGACATGGTG	0.587																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(220-222)aGt>aAt		immunoglobulin superfamily, member 5							95.0	72.0	80.0					21																	41137582		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41137582G>A		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.221G>A	21.37:g.41137582G>A	ENSP00000369962:p.Ser74Asn					IGSF5_ENST00000479378.1_3'UTR	p.S74N	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			3	324	+		Prostate(19;5.35e-06)	74			Ig-like V-type 1.			Missense_Mutation	SNP	ENST00000380588.4	37	c.221G>A	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.499102	0.00157	.	.	ENSG00000183067	ENST00000380588	T	0.23348	1.91	3.71	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.810362	0.11545	N	0.553365	T	0.04588	0.0125	N	0.00142	-2.005	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	10	0.02654	T	1	-2.3909	7.3042	0.26438	0.8149:0.0:0.1851:0.0	.	74	Q9NSI5	IGSF5_HUMAN	N	74	ENSP00000369962:S74N	ENSP00000369962:S74N	S	+	2	0	IGSF5	40059452	0.005000	0.15991	0.071000	0.20095	0.006000	0.05464	1.999000	0.40806	0.131000	0.18576	-0.381000	0.06696	AGT		0.587	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			10	229	0	0	0	1	0	10	229				
TATDN2	9797	broad.mit.edu	37	3	10291033	10291033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10291033G>T	ENST00000287652.4	+	2	1200	c.149G>T	c.(148-150)aGc>aTc	p.S50I	RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	50					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGAGGGCCCAGCAGCCCCAAG	0.667																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(148-150)aGc>aTc		TatD DNase domain containing 2							51.0	62.0	58.0					3																	10291033		2202	4299	6501	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10291033G>T	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.149G>T	3.37:g.10291033G>T	ENSP00000287652:p.Ser50Ile					TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I	p.S50I	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			2	1200	+			50					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.149G>T	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596076	0.28445	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.25250	1.81;1.81	4.16	4.16	0.48862	.	.	.	.	.	T	0.28863	0.0716	L	0.57536	1.79	0.28926	N	0.891843	B	0.32693	0.38	B	0.34180	0.177	T	0.24048	-1.0171	9	0.87932	D	0	-5.437	12.1708	0.54157	0.0:0.0:1.0:0.0	.	50	Q93075	TATD2_HUMAN	I	50	ENSP00000287652:S50I;ENSP00000408736:S50I	ENSP00000287652:S50I	S	+	2	0	TATDN2	10266033	0.805000	0.28982	0.883000	0.34634	0.029000	0.11900	1.465000	0.35299	2.304000	0.77564	0.563000	0.77884	AGC		0.667	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		138	609	1	0	5.20384e-49	1	6.43188e-49	138	609				
PTPRU	10076	broad.mit.edu	37	1	29587277	29587277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29587277G>A	ENST00000345512.3	+	7	1135	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A336T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A336T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	336	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGAGGTGCACGCCGTCAGCCT	0.647																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1006-1008)Gcc>Acc		protein tyrosine phosphatase, receptor type, U							63.0	60.0	61.0					1																	29587277		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587277G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1006G>A	1.37:g.29587277G>A	ENSP00000334941:p.Ala336Thr					PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A336T|PTPRU_ENST00000345512.3_Missense_Mutation_p.A336T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T	p.A336T	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1135	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	336			Fibronectin type-III 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1006G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958342	0.73902	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.22	4.25	0.50352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152411	0.42682	D	0.000668	T	0.58921	0.2156	L	0.56769	1.78	0.49051	D	0.999743	D;D;D;D;D	0.63046	0.99;0.99;0.99;0.992;0.992	P;P;P;P;P	0.52343	0.57;0.57;0.57;0.696;0.696	T	0.59878	-0.7371	9	.	.	.	.	14.3429	0.66641	0.0:0.1488:0.8512:0.0	.	336;336;336;336;336	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	336	ENSP00000334941:A336T;ENSP00000362884:A336T;ENSP00000349333:A336T;ENSP00000314987:A336T;ENSP00000392332:A336T;ENSP00000432906:A336T	.	A	+	1	0	PTPRU	29459864	1.000000	0.71417	0.990000	0.47175	0.380000	0.30137	7.926000	0.87569	2.418000	0.82041	0.462000	0.41574	GCC		0.647	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			26	353	0	0	0	1	0	26	353				
KIF13A	63971	broad.mit.edu	37	6	17777518	17777518	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17777518T>A	ENST00000259711.6	-	34	4265	c.4160A>T	c.(4159-4161)aAt>aTt	p.N1387I	KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000378814.5_Missense_Mutation_p.N1374I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1387					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTATGAACATTTGGTGTACT	0.478																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4120-4122)aAt>aTt		kinesin family member 13A							70.0	75.0	73.0					6																	17777518		1963	4157	6120	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17777518T>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4160A>T	6.37:g.17777518T>A	ENSP00000259711:p.Asn1387Ile					KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000259711.6_Missense_Mutation_p.N1387I	p.N1374I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		33	4120	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1387					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4121A>T	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.859464|5.859464	0.97036|0.97036	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T;T	.|0.74315	.|-0.79;1.52;-0.83;-0.79;-0.79;-0.79	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84492|0.84492	0.5484|0.5484	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;1.0;0.998;1.0	.|D;D;D;D	.|0.91635	.|0.934;0.999;0.969;0.998	D|D	0.87022|0.87022	0.2129|0.2129	5|10	.|0.87932	.|D	.|0	.|.	16.0773|16.0773	0.80976|0.80976	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1374;1387;1387;1374	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	L|I	781|1374;391;1387;1387;1374;1387	.|ENSP00000368091:N1374I;ENSP00000425616:N391I;ENSP00000259711:N1387I;ENSP00000368103:N1387I;ENSP00000368120:N1374I;ENSP00000368093:N1387I	.|ENSP00000259711:N1387I	M|N	-|-	1|2	0|0	KIF13A|KIF13A	17885497|17885497	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.992000|0.992000	0.81027|0.81027	7.655000|7.655000	0.83696|0.83696	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	ATG|AAT		0.478	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			6	64	0	0	0	1	0	6	64				
GPRIN3	285513	broad.mit.edu	37	4	90169956	90169956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169956C>T	ENST00000609438.1	-	2	1824	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.E436K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	436										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTCCCATCTTCTTTACACGTA	0.468																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1306-1308)Gaa>Aaa		GPRIN family member 3							94.0	95.0	95.0					4																	90169956		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169956C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1306G>A	4.37:g.90169956C>T	ENSP00000476603:p.Glu436Lys						p.E436K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1824	-		Hepatocellular(203;0.114)	436					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1306G>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613589	0.28712	.	.	ENSG00000185477	ENST00000333209	T	0.10860	2.83	4.82	2.05	0.26809	.	0.481105	0.15476	N	0.260322	T	0.07818	0.0196	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.19946	0.027	T	0.41770	-0.9490	10	0.17369	T	0.5	-8.3944	8.4706	0.32982	0.0:0.6282:0.2928:0.0789	.	436	Q6ZVF9	GRIN3_HUMAN	K	436	ENSP00000328672:E436K	ENSP00000328672:E436K	E	-	1	0	GPRIN3	90388979	0.000000	0.05858	0.003000	0.11579	0.212000	0.24457	0.180000	0.16860	0.211000	0.20683	0.563000	0.77884	GAA		0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		90	441	0	0	0	1	0	90	441				
OSBP2	23762	broad.mit.edu	37	22	31091406	31091406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31091406C>T	ENST00000332585.6	+	1	614	c.510C>T	c.(508-510)ggC>ggT	p.G170G	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000407373.1_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	170					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CGGGGACTGGCACGACCTCCA	0.612																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(508-510)ggC>ggT		oxysterol binding protein 2							46.0	50.0	48.0					22																	31091406		2037	4182	6219	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31091406C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.510C>T	22.37:g.31091406C>T						OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000403222.3_Intron	p.G170G	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			1	614	+			170					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.510C>T	CCDS43002.1																																																																																				0.612	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		66	302	0	0	0	1	0	66	302				
TCFL5	10732	broad.mit.edu	37	20	61488887	61488887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61488887G>A	ENST00000335351.3	-	4	1190	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	TCFL5_ENST00000217162.5_Silent_p.G318G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	366					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G366G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGGCACCTTCGCCCACATTCT	0.582																																						ENST00000335351.3																			1	Substitution - coding silent(1)	p.G366G(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(1096-1098)ggC>ggT		transcription factor-like 5 (basic helix-loop-helix)							114.0	106.0	108.0					20																	61488887		2203	4300	6503	SO:0001819	synonymous_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488887G>A	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1098C>T	20.37:g.61488887G>A						TCFL5_ENST00000217162.5_Silent_p.G318G	p.G366G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			4	1190	-	Breast(26;5.68e-08)		366					O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	c.1098C>T	CCDS13506.1																																																																																				0.582	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		113	493	0	0	0	1	0	113	493				
KLHL22	84861	broad.mit.edu	37	22	20819860	20819860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20819860G>A	ENST00000328879.4	-	4	553	c.397C>T	c.(397-399)Cca>Tca	p.P133S	KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	133					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATAATTTCTGGGATCTGCAGA	0.522																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-399)Cca>Tca		kelch-like family member 22							46.0	49.0	48.0					22																	20819860		2203	4298	6501	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819860G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.397C>T	22.37:g.20819860G>A	ENSP00000331682:p.Pro133Ser					KLHL22_ENST00000440659.2_5'UTR	p.P133S	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	553	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	133					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.397C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	5.913	0.352446	0.11182	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.43	5.43	0.79202	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.228496	0.47093	D	0.000260	T	0.43700	0.1259	N	0.13352	0.335	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.37150	-0.9718	10	0.06494	T	0.89	.	10.2156	0.43166	0.0903:0.0:0.9097:0.0	.	133	Q53GT1	KLH22_HUMAN	S	133;56;165;133;167	ENSP00000331682:P133S;ENSP00000400095:P56S;ENSP00000403999:P165S;ENSP00000398616:P133S;ENSP00000397882:P167S	ENSP00000331682:P133S	P	-	1	0	KLHL22	19149860	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.144000	0.58057	2.555000	0.86185	0.655000	0.94253	CCA		0.522	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		58	252	0	0	0	1	0	58	252				
PRR22	163154	broad.mit.edu	37	19	5784052	5784052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5784052G>A	ENST00000419421.2	-	3	310	c.206C>T	c.(205-207)gCc>gTc	p.A69V	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	69										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCCGCATGGGGCCATCTGGAA	0.667																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(205-207)gCc>gTc		proline rich 22							24.0	32.0	30.0					19																	5784052		2175	4276	6451	SO:0001583	missense	163154							g.chr19:5784052G>A	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.206C>T	19.37:g.5784052G>A	ENSP00000407653:p.Ala69Val					CTB-54O9.9_ENST00000586012.1_3'UTR	p.A69V	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	310	-			67					E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	c.206C>T	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113600	0.77210	.	.	ENSG00000212123	ENST00000419421	T	0.25912	1.77	4.58	4.58	0.56647	.	.	.	.	.	T	0.36608	0.0973	L	0.32530	0.975	0.33362	D	0.57249	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.46317	-0.9200	9	0.66056	D	0.02	-12.7944	8.4815	0.33045	0.1051:0.0:0.8949:0.0	.	69;67	E9PB31;Q8IZ63	.;PRR22_HUMAN	V	69	ENSP00000407653:A69V	ENSP00000407653:A69V	A	-	2	0	PRR22	5735052	1.000000	0.71417	0.949000	0.38748	0.910000	0.53928	4.060000	0.57477	2.373000	0.80994	0.491000	0.48974	GCC		0.667	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		49	394	0	0	0	1	0	49	394				
PHLDB3	653583	broad.mit.edu	37	19	43998922	43998922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43998922C>A	ENST00000292140.5	-	9	1441	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	361							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCCACGGCATCCTGGAGCACC	0.612																																						ENST00000292140.5																			0				breast(1)|central_nervous_system(1)|lung(5)	7						c.(1081-1083)Gat>Tat		pleckstrin homology-like domain, family B, member 3							38.0	47.0	44.0					19																	43998922		2096	4232	6328	SO:0001583	missense	653583							g.chr19:43998922C>A		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1081G>T	19.37:g.43998922C>A	ENSP00000292140:p.Asp361Tyr						p.D361Y	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN			9	1441	-		Prostate(69;0.0153)	361					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.1081G>T	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646014	0.47258	.	.	ENSG00000176531	ENST00000292140	T	0.52526	0.66	4.6	4.6	0.57074	.	.	.	.	.	T	0.56232	0.1971	L	0.29908	0.895	0.33992	D	0.649202	D;D	0.89917	0.986;1.0	P;D	0.83275	0.579;0.996	T	0.66705	-0.5856	9	0.56958	D	0.05	.	13.3415	0.60547	0.0:1.0:0.0:0.0	.	65;361	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	Y	361	ENSP00000292140:D361Y	ENSP00000292140:D361Y	D	-	1	0	PHLDB3	48690762	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.744000	0.55112	2.266000	0.75297	0.460000	0.39030	GAT		0.612	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			5	97	1	0	1	1	1	5	97				
MLH3	27030	broad.mit.edu	37	14	75515131	75515131	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75515131C>A	ENST00000556740.1	-	1	1263	c.1228G>T	c.(1228-1230)Gct>Tct	p.A410S	MLH3_ENST00000355774.2_Missense_Mutation_p.A410S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.A410S|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.A410S			Q9UHC1	MLH3_HUMAN	mutL homolog 3	410					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTTTTCACAGCTTTTGACTGC	0.348								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1228-1230)Gct>Tct	Mismatch excision repair (MMR)	mutL homolog 3							52.0	51.0	51.0					14																	75515131		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515131C>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1228G>T	14.37:g.75515131C>A	ENSP00000452316:p.Ala410Ser					MLH3_ENST00000556257.1_Missense_Mutation_p.A410S|MLH3_ENST00000238662.7_Missense_Mutation_p.A410S|MLH3_ENST00000556740.1_Missense_Mutation_p.A410S|MLH3_ENST00000380968.2_5'UTR	p.A410S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1443	-			410					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1228G>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.983191	0.02180	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80738	-1.35;-1.36;-1.41;-1.35	5.74	3.6	0.41247	.	0.363846	0.28803	N	0.014088	T	0.70133	0.3189	L	0.55103	1.725	0.80722	D	1	P;B	0.36990	0.577;0.0	B;B	0.30855	0.121;0.001	T	0.63959	-0.6519	10	0.11485	T	0.65	-9.4372	11.1063	0.48205	0.3113:0.6206:0.0:0.0681	.	410;410	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	410	ENSP00000348020:A410S;ENSP00000238662:A410S;ENSP00000451540:A410S;ENSP00000452316:A410S	ENSP00000238662:A410S	A	-	1	0	MLH3	74584884	0.991000	0.36638	1.000000	0.80357	0.959000	0.62525	0.137000	0.15995	0.787000	0.33731	-0.824000	0.03097	GCT		0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		9	280	1	0	0.010729	1	0.0107869	9	280				
LONRF2	164832	broad.mit.edu	37	2	100903511	100903511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100903511C>A	ENST00000393437.3	-	11	2574	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	645	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GTTCTTCATACTCTGGACCCT	0.488																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1933-1935)gaG>gaT		LON peptidase N-terminal domain and ring finger 2							90.0	67.0	75.0					2																	100903511		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903511C>A	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1935G>T	2.37:g.100903511C>A	ENSP00000377086:p.Glu645Asp					LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	p.E645D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			11	2574	-			645			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1935G>T	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232343	0.09969	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86562	-1.99;-2.14	4.95	1.78	0.24846	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.356504	0.31031	N	0.008395	T	0.77916	0.4202	L	0.35288	1.05	0.34150	D	0.667401	B	0.22541	0.071	B	0.29785	0.107	T	0.69030	-0.5253	10	0.14656	T	0.56	-6.4393	8.2426	0.31669	0.0:0.5979:0.1406:0.2615	.	645	Q1L5Z9	LONF2_HUMAN	D	645;402	ENSP00000377086:E645D;ENSP00000386823:E402D	ENSP00000377086:E645D	E	-	3	2	LONRF2	100269943	0.230000	0.23740	0.173000	0.22940	0.351000	0.29236	-0.455000	0.06762	0.390000	0.25115	0.655000	0.94253	GAG		0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		49	167	1	0	4.21674e-32	1	4.97474e-32	49	167				
PKD1L2	114780	broad.mit.edu	37	16	81164153	81164153	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81164153G>A	ENST00000534142.1	-	0	342				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			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						AAAGCCCCTGGTGAAGCTGTG	0.592																																						ENST00000525539.1																			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							44.0	50.0	48.0					16																	81164153		2000	4171	6171			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81164153G>A	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.81164153G>A						PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	5953	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.592	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			12	65	0	0	0	1	0	12	65				
TINAGL1	64129	broad.mit.edu	37	1	32050933	32050933	+	Missense_Mutation	SNP	G	G	A	rs146987687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32050933G>A	ENST00000271064.7	+	8	1115	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	347					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCGCCTCGGCTCCAACGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0					ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1039-1041)Ggc>Agc		tubulointerstitial nephritis antigen-like 1		G	SER/GLY,SER/GLY,SER/GLY	4,4402	8.1+/-20.4	0,4,2199	83.0	92.0	89.0		946,724,1039	4.3	0.8	1	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	TINAGL1	NM_001204414.1,NM_001204415.1,NM_022164.2	56,56,56	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	316/437,242/363,347/468	32050933	4,13002	2203	4300	6503	SO:0001583	missense	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050933G>A	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1039G>A	1.37:g.32050933G>A	ENSP00000271064:p.Gly347Ser					TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S|TINAGL1_ENST00000481165.1_3'UTR	p.G347S	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	8	1115	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	347					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	c.1039G>A	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	0.036	-1.304398	0.01353	9.08E-4	0.0	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.86097	-2.07;-2.07	5.31	4.29	0.51040	Peptidase C1A, papain C-terminal (2);	0.229383	0.45361	D	0.000367	T	0.55289	0.1911	N	0.00413	-1.525	0.80722	D	1	B;B	0.20671	0.037;0.047	B;B	0.15052	0.009;0.012	T	0.64347	-0.6429	10	0.02654	T	1	.	15.0297	0.71696	0.0:0.0:0.8029:0.1971	.	316;347	B4DPK6;Q9GZM7	.;TINAL_HUMAN	S	316;347;335	ENSP00000395137:G316S;ENSP00000271064:G347S	ENSP00000271064:G347S	G	+	1	0	TINAGL1	31823520	0.999000	0.42202	0.790000	0.31976	0.009000	0.06853	3.019000	0.49635	2.655000	0.90218	0.655000	0.94253	GGC		0.602	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		140	472	0	0	0	1	0	140	472				
SAP18	10284	broad.mit.edu	37	13	21720978	21720978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21720978G>A	ENST00000607003.1	+	3	249	c.217G>A	c.(217-219)Gta>Ata	p.V73I	SAP18_ENST00000382533.4_Missense_Mutation_p.V92I			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	73					mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		GACAAGCTTAGTAAAAGAAGT	0.343																																						ENST00000382533.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(274-276)Gta>Ata		Sin3A-associated protein, 18kDa							102.0	98.0	99.0					13																	21720978		2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21720978G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.217G>A	13.37:g.21720978G>A	ENSP00000475925:p.Val73Ile					SAP18_ENST00000607003.1_Missense_Mutation_p.V73I	p.V92I	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	3	313	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	73					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.274G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719292|2.719292	0.48728|0.48728	.|.	.|.	ENSG00000150459|ENSG00000150459	ENST00000450573|ENST00000382533	.|.	.|.	.|.	5.72|5.72	4.88|4.88	0.63580|0.63580	.|.	.|0.051574	.|0.85682	.|D	.|0.000000	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.32211	.|0.142	T|T	0.49380|0.49380	-0.8946|-0.8946	5|9	.|0.25751	.|T	.|0.34	-27.8251|-27.8251	14.9155|14.9155	0.70792|0.70792	0.0689:0.0:0.9311:0.0|0.0689:0.0:0.9311:0.0	.|.	.|73	.|O00422	.|SAP18_HUMAN	N|I	86|92	.|.	.|ENSP00000371973:V92I	S|V	+|+	2|1	0|0	SAP18|SAP18	20618978|20618978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.614000|9.614000	0.98353|0.98353	1.424000|1.424000	0.47217|0.47217	0.555000|0.555000	0.69702|0.69702	AGT|GTA		0.343	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		58	284	0	0	0	1	0	58	284				
ESPNL	339768	broad.mit.edu	37	2	239040166	239040166	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239040166G>T	ENST00000343063.3	+	9	3074	c.2811G>T	c.(2809-2811)acG>acT	p.T937T	ESPNL_ENST00000409169.1_Silent_p.T893T|ESPNL_ENST00000409506.1_Silent_p.T569T|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	937										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGGGATACGGAGCCTGGCC	0.726																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(2809-2811)acG>acT		espin-like							12.0	15.0	14.0					2																	239040166		2185	4276	6461	SO:0001819	synonymous_variant	339768							g.chr2:239040166G>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2811G>T	2.37:g.239040166G>T						ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.T893T|ESPNL_ENST00000409506.1_Silent_p.T569T	p.T937T	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	3074	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	937					Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	c.2811G>T	CCDS2525.1																																																																																				0.726	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		33	145	1	0	5.91797e-21	1	6.65236e-21	33	145				
CNTNAP4	85445	broad.mit.edu	37	16	76389355	76389355	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76389355T>G	ENST00000476707.1	+	2	485	c.346T>G	c.(346-348)Ttc>Gtc	p.F116V	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F112V|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.F112V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	113	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTCCTGATGTTCAGTGATAG	0.483																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(334-336)Ttc>Gtc		contactin associated protein-like 4							100.0	91.0	94.0					16																	76389355		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76389355T>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.346T>G	16.37:g.76389355T>G	ENSP00000417628:p.Phe116Val					CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.F116V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F112V	p.F112V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			4	719	+			113			F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.334T>G		.	.	.	.	.	.	.	.	.	.	T	22.0	4.235826	0.79800	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.8	4.8	0.61643	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.42420	D	0.000711	D	0.98485	0.9495	.	.	.	0.45883	D	0.998738	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.995;0.992;0.99;1.0	D	0.99285	1.0897	9	0.87932	D	0	.	12.6038	0.56511	0.0:0.0:0.0:1.0	.	88;116;88;113	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	V	112;112;88;116	ENSP00000306893:F112V;ENSP00000439733:F112V;ENSP00000418741:F88V;ENSP00000417628:F116V	ENSP00000306893:F112V	F	+	1	0	CNTNAP4	74946856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.145000	0.66743	0.482000	0.46254	TTC		0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		32	447	0	0	0	1	0	32	447				
TMPRSS11D	9407	broad.mit.edu	37	4	68688070	68688070	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68688070T>C	ENST00000283916.6	-	10	1340	c.1242A>G	c.(1240-1242)caA>caG	p.Q414Q	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	414	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCCAGTTTGTTGCCTAATCC	0.463																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1240-1242)caA>caG		transmembrane protease, serine 11D							186.0	171.0	176.0					4																	68688070		2203	4300	6503	SO:0001819	synonymous_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68688070T>C	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1242A>G	4.37:g.68688070T>C						TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q|RP11-453E17.1_ENST00000500538.2_RNA	p.Q414Q	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			10	1340	-			414			Peptidase S1.		Q08AF6	Silent	SNP	ENST00000283916.6	37	c.1242A>G	CCDS3518.1																																																																																				0.463	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		146	664	0	0	0	1	0	146	664				
KCNK3	3777	broad.mit.edu	37	2	26951339	26951339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951339G>A	ENST00000302909.3	+	2	1213	c.1088G>A	c.(1087-1089)tGc>tAc	p.C363Y		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	363					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CGCTGCCTGTGCAGCGGGGCG	0.716																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1087-1089)tGc>tAc		potassium channel, subfamily K, member 3							11.0	10.0	10.0					2																	26951339		2179	4255	6434	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26951339G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.1088G>A	2.37:g.26951339G>A	ENSP00000306275:p.Cys363Tyr						p.C363Y	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	1213	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		363					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.1088G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202469	0.58234	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22134	1.97	3.35	3.35	0.38373	.	1.338500	0.04478	N	0.377265	T	0.34571	0.0902	L	0.55481	1.735	0.51482	D	0.999926	D	0.69078	0.997	P	0.60682	0.878	T	0.54289	-0.8316	10	0.02654	T	1	.	10.5589	0.45133	0.0:0.0:1.0:0.0	.	363	O14649	KCNK3_HUMAN	Y	240;363	ENSP00000306275:C363Y	ENSP00000306275:C363Y	C	+	2	0	KCNK3	26804843	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.760000	0.62235	2.198000	0.70561	0.555000	0.69702	TGC		0.716	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		14	40	0	0	0	1	0	14	40				
CARS	833	broad.mit.edu	37	11	3059334	3059334	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3059334A>G	ENST00000397111.5	-	6	743	c.498T>C	c.(496-498)ctT>ctC	p.L166L	CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397114.3_Silent_p.L156L|CARS_ENST00000278224.9_Silent_p.L166L|CARS_ENST00000401769.3_Silent_p.L179L|CARS_ENST00000380525.4_Silent_p.L249L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	166					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CAGCTTTCTCAAGTGGCTCTG	0.517			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(466-468)ctT>ctC		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						160.0	140.0	147.0					11																	3059334		2202	4298	6500	SO:0001819	synonymous_variant	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3059334A>G	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.498T>C	11.37:g.3059334A>G			OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CARS_ENST00000401769.3_Silent_p.L179L|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Silent_p.L166L|CARS_ENST00000278224.9_Silent_p.L166L|CARS_ENST00000380525.4_Silent_p.L249L	p.L156L			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	7	844	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	166					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	37	c.468T>C	CCDS7742.1																																																																																				0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		14	692	0	0	0	1	0	14	692				
STK11IP	114790	broad.mit.edu	37	2	220473895	220473895	+	Missense_Mutation	SNP	G	G	A	rs368637601		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473895G>A	ENST00000456909.1	+	16	1976	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	640					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTTGCGTCGCTATTTGGTG	0.647																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1885-1887)cGc>cAc		serine/threonine kinase 11 interacting protein		G	HIS/ARG	0,4126		0,0,2063	34.0	35.0	34.0		1919	5.0	1.0	2		34	1,8379		0,1,4189	no	missense	STK11IP	NM_052902.2	29	0,1,6252	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	640/1100	220473895	1,12505	2063	4190	6253	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473895G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1886G>A	2.37:g.220473895G>A	ENSP00000389383:p.Arg629His					STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H	p.R629H			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1976	+		Renal(207;0.0183)	640					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1886G>A		.	.	.	.	.	.	.	.	.	.	G	23.6	4.439158	0.83885	0.0	1.19E-4	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05996	3.36;3.36	5.0	5.0	0.66597	.	0.486615	0.20714	N	0.087027	T	0.19046	0.0457	L	0.60455	1.87	0.34520	D	0.708063	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.62014	0.897;0.897;0.855	T	0.04178	-1.0971	10	0.46703	T	0.11	-12.346	15.3457	0.74334	0.0:0.0:1.0:0.0	.	608;640;640	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	H	629;608;640	ENSP00000389383:R629H;ENSP00000295641:R640H	ENSP00000295641:R640H	R	+	2	0	STK11IP	220182139	0.994000	0.37717	0.991000	0.47740	0.982000	0.71751	2.394000	0.44450	2.595000	0.87683	0.655000	0.94253	CGC		0.647	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		17	51	0	0	0	1	0	17	51				
PDE4DIP	9659	broad.mit.edu	37	1	144863415	144863415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144863415C>T	ENST00000369354.3	-	37	6177	c.5988G>A	c.(5986-5988)caG>caA	p.Q1996Q	PDE4DIP_ENST00000369359.4_Silent_p.Q2132Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1996					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACACTGTTGCTGCAGGAGAA	0.532			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6394-6396)caG>caA		phosphodiesterase 4D interacting protein							185.0	176.0	179.0					1																	144863415		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863415C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5988G>A	1.37:g.144863415C>T						PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000369354.3_Silent_p.Q1996Q|RP4-791M13.4_ENST00000532137.1_RNA	p.Q2132Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	40	6434	-			1996					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6396G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088585	0.20390	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.83	2.92	0.33932	.	.	.	.	.	T	0.44138	0.1279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35051	-0.9804	4	.	.	.	.	8.6048	0.33767	0.0:0.8033:0.0:0.1967	.	.	.	.	N	153	.	.	S	-	2	0	PDE4DIP	143574772	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.648000	0.37271	0.542000	0.28846	0.484000	0.47621	AGC		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		76	795	0	0	0	1	0	76	795				
MAGEC1	9947	broad.mit.edu	37	X	140994195	140994195	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994195G>T	ENST00000285879.4	+	4	1291	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	335										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTCCCCAGTCTCTTCTCC	0.458										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1003-1005)caG>caT		melanoma antigen family C, 1							119.0	121.0	120.0					X																	140994195		2202	4296	6498	SO:0001583	missense	9947						protein binding	g.chrX:140994195G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1005G>T	X.37:g.140994195G>T	ENSP00000285879:p.Gln335His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Q335H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1291	+	Acute lymphoblastic leukemia(192;6.56e-05)		335					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1005G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	1.900	-0.453329	0.04540	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.40806	D	0.983384	P	0.50156	0.932	B	0.37144	0.242	T	0.67684	-0.5607	8	0.87932	D	0	.	5.9409	0.19192	6.0E-4:0.0:0.9994:0.0	.	335	O60732	MAGC1_HUMAN	H	335	ENSP00000285879:Q335H	ENSP00000285879:Q335H	Q	+	3	2	MAGEC1	140821861	0.347000	0.24853	0.136000	0.22124	0.136000	0.21042	1.465000	0.35299	0.148000	0.19059	0.150000	0.16122	CAG		0.458	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		291	928	1	0	1.58129e-95	1	2.03205e-95	291	928				
LRRN3	54674	broad.mit.edu	37	7	110762985	110762985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:110762985G>T	ENST00000422987.3	+	2	988	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.V53L|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	53	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCATCTACAGTGGATTGTAA	0.378																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(157-159)Gtg>Ttg		leucine rich repeat neuronal 3							153.0	140.0	145.0					7																	110762985		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110762985G>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.157G>T	7.37:g.110762985G>T	ENSP00000412417:p.Val53Leu					IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.V53L|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron	p.V53L	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1203	+			53			LRRNT.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.157G>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336120	0.81801	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.52532	D	0.000068	D	0.99162	0.9710	M	0.81942	2.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99364	1.0918	10	0.44086	T	0.13	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	53	Q9H3W5	LRRN3_HUMAN	L	53	ENSP00000312001:V53L;ENSP00000397312:V53L;ENSP00000412417:V53L;ENSP00000407927:V53L	ENSP00000312001:V53L	V	+	1	0	LRRN3	110550221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.954000	0.87848	2.835000	0.97688	0.650000	0.86243	GTG		0.378	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		76	555	1	0	4.38691e-48	1	5.40915e-48	76	555				
DSTYK	25778	broad.mit.edu	37	1	205156672	205156672	+	Silent	SNP	C	C	T	rs374945965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205156672C>T	ENST00000367162.3	-	2	558	c.528G>A	c.(526-528)acG>acA	p.T176T	DSTYK_ENST00000367160.4_Silent_p.T176T|DSTYK_ENST00000367161.3_Silent_p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	176					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.T176T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGCAACCAGCGTGTGCACTA	0.572																																						ENST00000367162.3																			1	Substitution - coding silent(1)	p.T176T(1)	lung(1)	breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(526-528)acG>acA		dual serine/threonine and tyrosine protein kinase		C	,	0,4406		0,0,2203	88.0	66.0	74.0		528,528	-7.5	0.9	1		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSTYK	NM_015375.2,NM_199462.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	176/930,176/885	205156672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205156672C>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.528G>A	1.37:g.205156672C>T						DSTYK_ENST00000367161.3_Silent_p.T176T|DSTYK_ENST00000367160.4_Silent_p.T176T	p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			2	558	-			176					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.528G>A	CCDS1451.1																																																																																				0.572	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		66	201	0	0	0	1	0	66	201				
LAMA2	3908	broad.mit.edu	37	6	129612818	129612818	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129612818T>G	ENST00000421865.2	+	20	2858	c.2809T>G	c.(2809-2811)Tgt>Ggt	p.C937G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	937	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGGACAGTGTGAGTGCAG	0.468																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2809-2811)Tgt>Ggt		laminin, alpha 2							103.0	89.0	94.0					6																	129612818		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129612818T>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2809T>G	6.37:g.129612818T>G	ENSP00000400365:p.Cys937Gly						p.C937G	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	20	2858	+			937			Laminin EGF-like 9.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2809T>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158311	0.57368	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94280	-3.39	5.56	5.56	0.83823	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99828	1.1052	10	0.87932	D	0	.	16.0068	0.80367	0.0:0.0:0.0:1.0	.	937;937	A6NF00;P24043	.;LAMA2_HUMAN	G	937	ENSP00000400365:C937G	ENSP00000346769:C937G	C	+	1	0	LAMA2	129654511	1.000000	0.71417	0.984000	0.44739	0.041000	0.13682	7.696000	0.84270	2.241000	0.73720	0.482000	0.46254	TGT		0.468	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			33	125	0	0	0	1	0	33	125				
CPA5	93979	broad.mit.edu	37	7	130001054	130001054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130001054G>A	ENST00000485477.1	+	6	1632	c.503G>A	c.(502-504)aGc>aAc	p.S168N	CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	168						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATTGGCAACAGCTTTGAAAAC	0.403																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(502-504)aGc>aAc		carboxypeptidase A5							96.0	86.0	89.0					7																	130001054		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130001054G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.503G>A	7.37:g.130001054G>A	ENSP00000420237:p.Ser168Asn					CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N|CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_Missense_Mutation_p.S168N	p.S168N			Q8WXQ8	CBPA5_HUMAN			6	1632	+	Melanoma(18;0.0435)		168					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.503G>A	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010102	0.75046	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	6.17	5.25	0.73442	Peptidase M14, carboxypeptidase A (3);	0.074008	0.56097	D	0.000021	T	0.70334	0.3212	H	0.98048	4.135	0.32261	N	0.570195	D;D	0.67145	0.996;0.993	D;D	0.68621	0.909;0.959	T	0.83180	-0.0089	9	.	.	.	.	16.7161	0.85397	0.0:0.1395:0.8605:0.0	.	168;168	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	N	168	ENSP00000347549:S168N;ENSP00000418183:S168N;ENSP00000419025:S168N;ENSP00000420237:S168N;ENSP00000393045:S168N;ENSP00000417314:S168N;ENSP00000376907:S168N	.	S	+	2	0	CPA5	129788290	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.210000	0.58500	2.941000	0.99782	0.655000	0.94253	AGC		0.403	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		42	223	0	0	0	1	0	42	223				
CUZD1	50624	broad.mit.edu	37	10	124594412	124594412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124594412C>T	ENST00000368904.1	-	9	2141	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T|CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAAAAAGAGCCATGCTGGTG	0.343																																						ENST00000368904.1																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39						c.(1192-1194)Gct>Act		CUB and zona pellucida-like domains 1							126.0	110.0	116.0					10																	124594412		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124594412C>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1192G>A	10.37:g.124594412C>T	ENSP00000357900:p.Ala398Thr					CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T|CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T	p.A398T			Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	9	2141	-		all_neural(114;0.169)|Glioma(114;0.222)	398			ZP.			Missense_Mutation	SNP	ENST00000368904.1	37	c.1192G>A	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126578	0.56721	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.82167	-1.58;-1.58;-1.58	4.81	3.86	0.44501	Zona pellucida sperm-binding protein (3);	0.182978	0.45606	D	0.000341	D	0.83312	0.5227	L	0.46741	1.465	0.31908	N	0.615022	D	0.61080	0.989	P	0.57620	0.824	T	0.80997	-0.1132	10	0.18710	T	0.47	-12.2227	12.0467	0.53483	0.3723:0.6277:0.0:0.0	.	398	Q86UP6	CUZD1_HUMAN	T	398;117;117;32;117;398;398	ENSP00000357900:A398T;ENSP00000441590:A398T;ENSP00000376540:A398T	ENSP00000340905:A32T	A	-	1	0	CUZD1	124584402	0.999000	0.42202	1.000000	0.80357	0.431000	0.31685	0.854000	0.27791	2.217000	0.71921	0.460000	0.39030	GCT		0.343	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		45	231	0	0	0	1	0	45	231				
PRG2	5553	broad.mit.edu	37	11	57156117	57156117	+	Missense_Mutation	SNP	C	C	T	rs375145993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57156117C>T	ENST00000311862.5	-	4	504	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	ACACTGGATTCGATAATTAAT	0.488													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20035	0.0		0.001	False		,,,				2504	0.0					ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(430-432)cGa>cAa		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	149.0	140.0	143.0		431	-10.6	0.0	11		143	0,8592		0,0,4296	no	missense	PRG2	NM_002728.4	43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		144/223	57156117	1,12993	2201	4296	6497	SO:0001583	missense	5553							g.chr11:57156117C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.431G>A	11.37:g.57156117C>T	ENSP00000312134:p.Arg144Gln					PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	p.R144Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	504	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.431G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033745	0.19590	2.27E-4	0.0	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.18502	2.21;2.21;2.21	5.32	-10.6	0.00265	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.450750	0.04539	N	0.387862	T	0.06508	0.0167	N	0.05177	-0.1	0.09310	N	1	B;B	0.20550	0.0;0.046	B;B	0.15870	0.001;0.014	T	0.30031	-0.9992	10	0.27082	T	0.32	.	9.5745	0.39450	0.216:0.5966:0.0:0.1874	.	133;144	A6XMW0;P13727	.;PRG2_HUMAN	Q	144;133;144	ENSP00000312134:R144Q;ENSP00000433231:R133Q;ENSP00000433016:R144Q	ENSP00000312134:R144Q	R	-	2	0	PRG2	56912693	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.161000	0.00283	-1.470000	0.01888	-2.087000	0.00375	CGA		0.488	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		168	718	0	0	0	1	0	168	718				
CAPN5	726	broad.mit.edu	37	11	76825452	76825452	+	Missense_Mutation	SNP	G	G	A	rs200993761		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76825452G>A	ENST00000278559.3	+	5	860	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q|CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	224	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGCACAGCCGGGGCGGCCTC	0.587											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19577	0.0		0.001	False		,,,				2504	0.0					ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(670-672)cGg>cAg		calpain 5		G	GLN/ARG	0,4400		0,0,2200	173.0	167.0	169.0		671	4.7	1.0	11		169	1,8583	1.2+/-3.3	0,1,4291	no	missense	CAPN5	NM_004055.4	43	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	224/641	76825452	1,12983	2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76825452G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.671G>A	11.37:g.76825452G>A	ENSP00000278559:p.Arg224Gln		OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q|CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q	p.R224Q	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			5	860	+			224			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.671G>A	CCDS8248.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	32	5.115359	0.94339	0.0	1.16E-4	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.88201	-2.35;-2.35;-2.35	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.120719	0.56097	D	0.000029	D	0.93831	0.8027	M	0.71206	2.165	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.991;0.991;1.0	D;P;P;D	0.91635	0.999;0.701;0.701;0.999	D	0.94435	0.7653	10	0.72032	D	0.01	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	262;264;264;224	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	Q	224;264;224;264;264	ENSP00000278559:R224Q;ENSP00000432332:R224Q;ENSP00000409996:R264Q	ENSP00000278559:R224Q	R	+	2	0	CAPN5	76503100	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.860000	0.86993	2.438000	0.82558	0.655000	0.94253	CGG		0.587	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		202	997	0	0	0	1	0	202	997				
TSPAN17	26262	broad.mit.edu	37	5	176083112	176083112	+	Missense_Mutation	SNP	G	G	A	rs142689576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176083112G>A	ENST00000503045.1	+	6	602	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I|TSPAN17_ENST00000298564.10_Missense_Mutation_p.V98I|TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I			Q96FV3	TSN17_HUMAN	tetraspanin 17	206					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTACGACGTCCGGCTCAA	0.607																																						ENST00000298564.10																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(292-294)Gtc>Atc		tetraspanin 17		G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	89.0	72.0	78.0		616,616,616	1.3	0.1	5	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	TSPAN17	NM_001006616.2,NM_012171.2,NM_130465.4	29,29,29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign,benign,benign	206/264,206/333,206/330	176083112	4,13002	2203	4300	6503	SO:0001583	missense	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176083112G>A	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.547G>A	5.37:g.176083112G>A	ENSP00000425212:p.Val183Ile					TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000503045.1_Missense_Mutation_p.V183I	p.V98I			Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	441	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	206					Q6NXF7|Q96S98|Q9UKB9	Missense_Mutation	SNP	ENST00000503045.1	37	c.292G>A		.	.	.	.	.	.	.	.	.	.	G	10.53	1.376203	0.24857	4.54E-4	2.33E-4	ENSG00000048140	ENST00000310032;ENST00000405525;ENST00000298564;ENST00000508164;ENST00000504168;ENST00000503045;ENST00000515708	T;T;T;T;T;T;T	0.79653	-1.2;-1.2;-1.29;-1.25;-1.25;-1.2;-1.25	5.07	1.26	0.21427	Tetraspanin, EC2 domain (1);	0.130386	0.50627	N	0.000102	T	0.69646	0.3134	L	0.44542	1.39	0.37742	D	0.925641	B;B;B;B;B	0.29805	0.257;0.003;0.048;0.025;0.037	B;B;B;B;B	0.27262	0.078;0.003;0.032;0.025;0.013	T	0.62181	-0.6908	10	0.42905	T	0.14	-0.7924	8.5656	0.33538	0.3323:0.0:0.6677:0.0	.	206;206;206;206;98	Q96FV3-3;C9J7R4;Q96FV3-4;Q96FV3;Q96FV3-2	.;.;.;TSN17_HUMAN;.	I	206;206;98;206;194;183;206	ENSP00000309036:V206I;ENSP00000385665:V206I;ENSP00000298564:V98I;ENSP00000422053:V206I;ENSP00000423957:V194I;ENSP00000425212:V183I;ENSP00000426650:V206I	ENSP00000298564:V98I	V	+	1	0	TSPAN17	176015718	0.878000	0.30173	0.067000	0.19924	0.654000	0.38779	1.159000	0.31749	-0.059000	0.13154	0.561000	0.74099	GTC		0.607	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			92	250	0	0	0	1	0	92	250				
TRMT10C	54931	broad.mit.edu	37	3	101284213	101284213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101284213C>T	ENST00000309922.6	+	2	742	c.588C>T	c.(586-588)gcC>gcT	p.A196A		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	196	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GGAAGGGTGCCCAGGCCATGC	0.393																																						ENST00000309922.6																			0											c.(586-588)gcC>gcT		tRNA methyltransferase 10 homolog C (S. cerevisiae)							103.0	95.0	98.0					3																	101284213		1849	4094	5943	SO:0001819	synonymous_variant	54931							g.chr3:101284213C>T	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.588C>T	3.37:g.101284213C>T							p.A196A	NM_017819.2	NP_060289.2					2	742	+								Q9NRG5|Q9NX54|Q9Y596	Silent	SNP	ENST00000309922.6	37	c.588C>T	CCDS43122.1																																																																																				0.393	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		22	542	0	0	0	1	0	22	542				
TBC1D9B	23061	broad.mit.edu	37	5	179291064	179291064	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179291064T>C	ENST00000356834.3	-	22	3174	c.3137A>G	c.(3136-3138)gAc>gGc	p.D1046G	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1046						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGTACAGGTCCTGCTCCAT	0.562																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(3136-3138)gAc>gGc		TBC1 domain family, member 9B (with GRAM domain)							44.0	38.0	40.0					5																	179291064		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179291064T>C	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3137A>G	5.37:g.179291064T>C	ENSP00000349291:p.Asp1046Gly					TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G|TBC1D9B_ENST00000518085.1_5'UTR	p.D1046G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		22	3174	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1046					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.3137A>G	CCDS43408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.61|17.61	3.433074|3.433074	0.62844|0.62844	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438|ENST00000524222	T;T;T;T|.	0.36878|.	2.96;3.06;1.23;1.49|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.189265|.	0.44483|.	D|.	0.000454|.	T|T	0.68979|0.68979	0.3060|0.3060	L|L	0.55481|0.55481	1.735|1.735	0.51482|0.51482	D|D	0.999928|0.999928	B;B;B;B;B|.	0.15930|.	0.001;0.002;0.001;0.002;0.015|.	B;B;B;B;B|.	0.18561|.	0.005;0.012;0.005;0.006;0.022|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.62326|.	D|.	0.03|.	-23.3488|-23.3488	15.3622|15.3622	0.74487|0.74487	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1028;1029;1046;245;120|.	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8|.	.;.;TBC9B_HUMAN;.;.|.	G|A	1046;1029;205;187;120|89	ENSP00000349291:D1046G;ENSP00000347375:D1029G;ENSP00000430293:D205G;ENSP00000401585:D187G|.	ENSP00000347375:D1029G|.	D|T	-|-	2|1	0|0	TBC1D9B|TBC1D9B	179223670|179223670	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.989000|0.989000	0.77384|0.77384	3.457000|3.457000	0.53007|0.53007	2.028000|2.028000	0.59812|0.59812	0.379000|0.379000	0.24179|0.24179	GAC|ACC		0.562	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		63	181	0	0	0	1	0	63	181				
DNAH9	1770	broad.mit.edu	37	17	11865483	11865483	+	Silent	SNP	G	G	A	rs138480985|rs573981769	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11865483G>A	ENST00000262442.4	+	68	13211	c.13143G>A	c.(13141-13143)acG>acA	p.T4381T	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000608377.1_Silent_p.T693T|DNAH9_ENST00000454412.2_Silent_p.T4305T|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4381					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGACATGACGAAGAAGAACA	0.552																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13141-13143)acG>acA		dynein, axonemal, heavy chain 9		A	,	0,4406		0,0,2203	76.0	76.0	76.0		13143,2079	-10.1	0.4	17	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	DNAH9	NM_001372.3,NM_004662.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	4381/4487,693/799	11865483	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865483G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13143G>A	17.37:g.11865483G>A						RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Silent_p.T4305T|DNAH9_ENST00000396001.2_Silent_p.T693T	p.T4381T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13211	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4381					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.13143G>A	CCDS11160.1																																																																																				0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		32	358	0	0	0	1	0	32	358				
CCDC88C	440193	broad.mit.edu	37	14	91805638	91805638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91805638G>A	ENST00000389857.6	-	8	879	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	265					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCCTGACGCGCCGCAGCCTG	0.627																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(793-795)Cgc>Tgc		coiled-coil domain containing 88C							40.0	47.0	45.0					14																	91805638		2199	4296	6495	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91805638G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.793C>T	14.37:g.91805638G>A	ENSP00000374507:p.Arg265Cys						p.R265C	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			8	879	-		all_cancers(154;0.0468)	265					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.793C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583325	0.65992	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	T	0.46063	0.88	5.25	3.21	0.36854	.	0.000000	0.47455	U	0.000234	T	0.59838	0.2223	M	0.83012	2.62	0.80722	D	1	D	0.67145	0.996	D	0.63793	0.918	T	0.63010	-0.6732	10	0.87932	D	0	-13.8149	7.375	0.26823	0.0:0.1158:0.4603:0.4238	.	265	Q9P219	DAPLE_HUMAN	C	265;229	ENSP00000374507:R265C	ENSP00000374507:R265C	R	-	1	0	CCDC88C	90875391	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.344000	0.44010	1.185000	0.42971	0.561000	0.74099	CGC		0.627	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		36	123	0	0	0	1	0	36	123				
TEKT3	64518	broad.mit.edu	37	17	15234932	15234932	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15234932C>T	ENST00000395930.1	-	3	158		c.e3-1		TEKT3_ENST00000338696.2_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3						cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TAAATCTCTCCTGTTAAAAAA	0.373																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.e3-1		tektin 3							28.0	28.0	28.0					17																	15234932		2203	4300	6503	SO:0001630	splice_region_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234932C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.29-1G>A	17.37:g.15234932C>T						TEKT3_ENST00000338696.2_5'UTR		NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	158	-								B2RAS7|D3DTT0|Q8N5R5|Q96M48	Splice_Site	SNP	ENST00000395930.1	37		CCDS11169.1																																																																																				0.373	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898	Intron	29	106	0	0	0	1	0	29	106				
SPATA13	221178	broad.mit.edu	37	13	24860906	24860906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24860906C>T	ENST00000382095.4	+	6	1017	c.610C>T	c.(610-612)Cga>Tga	p.R204*	SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R829*|RP11-307N16.6_ENST00000382141.4_Nonsense_Mutation_p.R707*|SPATA13_ENST00000343003.6_Nonsense_Mutation_p.R148*|SPATA13_ENST00000424834.2_Nonsense_Mutation_p.R829*|SPATA13_ENST00000399949.2_Nonsense_Mutation_p.R126*|SPATA13_ENST00000409126.1_Intron	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	204	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTTGCAGTTGCGAGTGAATCA	0.597																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2485-2487)Cga>Tga		spermatogenesis associated 13							49.0	48.0	49.0					13																	24860906		2203	4300	6503	SO:0001587	stop_gained	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860906C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.610C>T	13.37:g.24860906C>T	ENSP00000371527:p.Arg204*					SPATA13_ENST00000399949.2_Nonsense_Mutation_p.R126*|SPATA13_ENST00000343003.6_Nonsense_Mutation_p.R148*|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R829*|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382095.4_Nonsense_Mutation_p.R204*	p.R829*			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	9	2958	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	204					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Nonsense_Mutation	SNP	ENST00000382095.4	37	c.2485C>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.536955|8.536955	0.98854|0.98854	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000438694;ENST00000399949;ENST00000343003	.|.	.|.	.|.	4.81|4.81	2.95|2.95	0.34219|0.34219	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.38108|.	0.1028|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42531|.	-0.9446|.	3|.	.|0.20046	.|T	.|0.44	.|.	8.7046|8.7046	0.34347|0.34347	0.153:0.7627:0.0:0.0843|0.153:0.7627:0.0:0.0843	.|.	.|.	.|.	.|.	V|X	866|829;204;150;126;148	.|.	.|ENSP00000343631:R148X	A|R	+|+	2|1	0|2	SPATA13|SPATA13	23758906|23758906	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.495000|0.495000	0.33615|0.33615	2.856000|2.856000	0.48341|0.48341	2.371000|2.371000	0.80710|0.80710	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.597	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		32	156	0	0	0	1	0	32	156				
PHLPP2	23035	broad.mit.edu	37	16	71713307	71713307	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71713307A>G	ENST00000568954.1	-	7	1400	c.1022T>C	c.(1021-1023)aTt>aCt	p.I341T	PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000393524.2_Missense_Mutation_p.I341T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	341					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAGATTGCCAATTTGACTTGG	0.388																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1021-1023)aTt>aCt		PH domain and leucine rich repeat protein phosphatase 2							90.0	87.0	88.0					16																	71713307		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71713307A>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1022T>C	16.37:g.71713307A>G	ENSP00000457991:p.Ile341Thr					PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000568954.1_Missense_Mutation_p.I341T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T	p.I341T			Q6ZVD8	PHLP2_HUMAN			6	1755	-			341					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.1022T>C	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667761	0.67814	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.26067	1.76;1.76;1.76	6.03	6.03	0.97812	.	0.047074	0.85682	D	0.000000	T	0.52933	0.1765	M	0.80847	2.515	0.45528	D	0.998486	P;D	0.69078	0.949;0.997	P;D	0.65874	0.675;0.939	T	0.58132	-0.7690	10	0.87932	D	0	-20.5139	15.7393	0.77876	1.0:0.0:0.0:0.0	.	341;341	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	T	148;341;341;341;341	ENSP00000353610:I341T;ENSP00000348611:I341T;ENSP00000377159:I341T	ENSP00000299971:I148T	I	-	2	0	PHLPP2	70270808	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.079000	0.94032	2.308000	0.77769	0.533000	0.62120	ATT		0.388	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		65	273	0	0	0	1	0	65	273				
SIX1	6495	broad.mit.edu	37	14	61115456	61115456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61115456G>A	ENST00000247182.6	-	1	724	c.452C>T	c.(451-453)cCg>cTg	p.P151L	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	151					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTTCTCACGCGGCGATGGGTA	0.662																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(451-453)cCg>cTg		SIX homeobox 1							53.0	51.0	52.0					14																	61115456		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115456G>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.452C>T	14.37:g.61115456G>A	ENSP00000247182:p.Pro151Leu					SIX1_ENST00000554986.1_Intron	p.P151L	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	724	-			151					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.452C>T	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344548	0.95807	.	.	ENSG00000126778	ENST00000247182	D	0.95918	-3.85	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.97063	0.9772	10	0.87932	D	0	-26.2444	20.0189	0.97489	0.0:0.0:1.0:0.0	.	151	Q15475	SIX1_HUMAN	L	151	ENSP00000247182:P151L	ENSP00000247182:P151L	P	-	2	0	SIX1	60185209	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.797000	0.99108	2.828000	0.97474	0.655000	0.94253	CCG		0.662	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			55	251	0	0	0	1	0	55	251				
RAF1	5894	broad.mit.edu	37	3	12626108	12626108	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12626108G>T	ENST00000251849.4	-	17	2291	c.1852C>A	c.(1852-1854)Cgg>Agg	p.R618R	RAF1_ENST00000542177.1_Silent_p.R537R|RAF1_ENST00000442415.2_Silent_p.R638R|RAF1_ENST00000534997.1_Silent_p.R403R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	618					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAAGCGCTCCGGTTGATCTTC	0.532			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1852-1854)Cgg>Agg		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						142.0	125.0	131.0					3																	12626108		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12626108G>T	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1852C>A	3.37:g.12626108G>T						RAF1_ENST00000542177.1_Silent_p.R537R|RAF1_ENST00000534997.1_Silent_p.R403R|RAF1_ENST00000442415.2_Silent_p.R638R	p.R618R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			17	2291	-			618					B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.1852C>A	CCDS2612.1																																																																																				0.532	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		64	337	1	0	6.1719e-39	1	7.45173e-39	64	337				
PIP4K2A	5305	broad.mit.edu	37	10	23003205	23003205	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23003205C>A	ENST00000376573.4	-	1	279	c.51G>T	c.(49-51)aaG>aaT	p.K17N	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	17					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.K17N(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCTTCTTGGTCTTGGTCTTGC	0.647																																						ENST00000376573.4																			1	Substitution - Missense(1)	p.K17N(1)	lung(1)	endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(49-51)aaG>aaT		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							87.0	79.0	82.0					10																	23003205		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:23003205C>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.51G>T	10.37:g.23003205C>A	ENSP00000365757:p.Lys17Asn						p.K17N	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			1	279	-			17					B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.51G>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.943268	0.73672	.	.	ENSG00000150867	ENST00000376573	T	0.48522	0.81	3.71	2.81	0.32909	.	0.000000	0.64402	U	0.000008	T	0.65375	0.2685	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	P	0.61328	0.887	T	0.68465	-0.5401	10	0.62326	D	0.03	.	9.9501	0.41634	0.0:0.8969:0.0:0.1031	.	17	P48426	PI42A_HUMAN	N	17	ENSP00000365757:K17N	ENSP00000365757:K17N	K	-	3	2	PIP4K2A	23043211	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.370000	0.44240	0.812000	0.34326	0.274000	0.19336	AAG		0.647	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		8	224	1	0	0.00621372	1	0.0062537	8	224				
LAMC3	10319	broad.mit.edu	37	9	133928326	133928326	+	Missense_Mutation	SNP	G	G	A	rs148563273	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928326G>A	ENST00000361069.4	+	11	2046	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	638	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCCGCCTCCGCGTCAGTCCC	0.682											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1912-1914)cGc>cAc		laminin, gamma 3		A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	30.0	29.0	29.0		1913	-9.1	0.0	9	dbSNP_134	29	1,8595	1.2+/-3.3	0,1,4297	yes	missense	LAMC3	NM_006059.3	29	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	638/1576	133928326	2,13000	2203	4298	6501	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928326G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1913G>A	9.37:g.133928326G>A	ENSP00000354360:p.Arg638His		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.R638H	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	11	2046	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	638			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1913G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458196	0.63401	2.27E-4	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.50277	0.75	5.65	-9.09	0.00717	Laminin B type IV (2);	0.604497	0.18674	N	0.134377	T	0.52403	0.1732	M	0.79614	2.46	0.09310	N	1	P	0.39809	0.689	P	0.47573	0.55	T	0.60419	-0.7267	10	0.49607	T	0.09	.	17.3735	0.87385	0.6445:0.0:0.3555:0.0	.	638	Q9Y6N6	LAMC3_HUMAN	H	638	ENSP00000354360:R638H	ENSP00000347156:R638H	R	+	2	0	LAMC3	132918147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.071000	0.03437	-1.933000	0.01052	-2.532000	0.00182	CGC		0.682	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		49	171	0	0	0	1	0	49	171				
CMYA5	202333	broad.mit.edu	37	5	79034527	79034527	+	Silent	SNP	C	C	T	rs373289361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034527C>T	ENST00000446378.2	+	2	9970	c.9939C>T	c.(9937-9939)acC>acT	p.T3313T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3313					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTGGAGACCGTTGGTAACG	0.468																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(9937-9939)acC>acT		cardiomyopathy associated 5							110.0	112.0	111.0					5																	79034527		2037	4187	6224	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79034527C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9939C>T	5.37:g.79034527C>T							p.T3313T	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	9970	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3313					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.9939C>T	CCDS47238.1																																																																																				0.468	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		76	351	0	0	0	1	0	76	351				
CSF1	1435	broad.mit.edu	37	1	110466000	110466000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110466000C>T	ENST00000329608.6	+	6	1148	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	253					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGCAGCGGCCACCCAGGAG	0.652											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000329608.6																			0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(757-759)Cca>Tca		colony stimulating factor 1 (macrophage)							42.0	47.0	45.0					1																	110466000		2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466000C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.757C>T	1.37:g.110466000C>T	ENSP00000327513:p.Pro253Ser		OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427	CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S	p.P253S	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1148	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	253					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.757C>T	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164293	0.38217	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.42	3.43	0.39272	.	0.298004	0.23547	N	0.047009	T	0.46386	0.1390	M	0.63428	1.95	0.32806	D	0.500822	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.96	T	0.34551	-0.9824	10	0.32370	T	0.25	.	12.0079	0.53270	0.0:0.8257:0.1743:0.0	.	253;253	P09603;P09603-2	CSF1_HUMAN;.	S	253;253;212;253;253	ENSP00000342718:P253S;ENSP00000327513:P253S;ENSP00000433837:P212S;ENSP00000358817:P253S;ENSP00000358816:P253S	ENSP00000327513:P253S	P	+	1	0	CSF1	110267523	0.587000	0.26791	1.000000	0.80357	0.353000	0.29299	0.357000	0.20199	2.152000	0.67230	0.313000	0.20887	CCA		0.652	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		52	339	0	0	0	1	0	52	339				
ESYT3	83850	broad.mit.edu	37	3	138191410	138191410	+	Missense_Mutation	SNP	G	G	A	rs147770352	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138191410G>A	ENST00000389567.4	+	18	2132	c.1946G>A	c.(1945-1947)aGt>aAt	p.S649N		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	649					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACCACCACCAGTGCTACCACC	0.557																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(1945-1947)aGt>aAt		extended synaptotagmin-like protein 3							138.0	154.0	149.0					3																	138191410		2094	4221	6315	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138191410G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1946G>A	3.37:g.138191410G>A	ENSP00000374218:p.Ser649Asn						p.S649N	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2132	+			649					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1946G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	2.209	-0.381065	0.05000	.	.	ENSG00000158220	ENST00000389567	T	0.38887	1.11	3.35	2.35	0.29111	.	2.072220	0.02129	N	0.056260	T	0.35278	0.0926	L	0.36672	1.1	0.19575	N	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.18710	T	0.47	-0.1719	9.3357	0.38049	0.0:0.0:0.7719:0.2281	.	649	A0FGR9	ESYT3_HUMAN	N	649	ENSP00000374218:S649N	ENSP00000374218:S649N	S	+	2	0	ESYT3	139674100	0.143000	0.22626	0.094000	0.20943	0.717000	0.41224	0.770000	0.26618	1.713000	0.51359	0.462000	0.41574	AGT		0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		136	596	0	0	0	1	0	136	596				
DENND3	22898	broad.mit.edu	37	8	142178477	142178477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142178477G>A	ENST00000262585.2	+	13	2166	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	DENND3_ENST00000519811.1_Missense_Mutation_p.E710K|DENND3_ENST00000424248.1_Missense_Mutation_p.E578K	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	630					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGCCGCACGAGGCCTCGAA	0.612																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2128-2130)Gag>Aag		DENN/MADD domain containing 3							68.0	68.0	68.0					8																	142178477		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142178477G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1888G>A	8.37:g.142178477G>A	ENSP00000262585:p.Glu630Lys					DENND3_ENST00000424248.1_Missense_Mutation_p.E578K|DENND3_ENST00000262585.2_Missense_Mutation_p.E630K	p.E710K			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	2198	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		630					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2128G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.804188|2.804188	0.50315|0.50315	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.15372|.	2.87;2.43;2.86|.	5.56|5.56	4.67|4.67	0.58626|0.58626	.|.	0.198521|.	0.52532|.	D|.	0.000074|.	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.62723|0.62723	1.935|1.935	0.50467|0.50467	D|D	0.999878|0.999878	D;D;D|.	0.58620|.	0.971;0.983;0.971|.	B;P;B|.	0.50082|.	0.426;0.63;0.426|.	T|T	0.70809|0.70809	-0.4771|-0.4771	10|5	0.48119|.	T|.	0.1|.	-14.1069|-14.1069	16.2841|16.2841	0.82710|0.82710	0.0:0.1327:0.8673:0.0|0.0:0.1327:0.8673:0.0	.|.	710;578;630|.	E9PF32;A2RUS2-2;A2RUS2|.	.;.;DEND3_HUMAN|.	K|Q	630;578;710|634	ENSP00000262585:E630K;ENSP00000410594:E578K;ENSP00000428714:E710K|.	ENSP00000262585:E630K|.	E|R	+|+	1|2	0|0	DENND3|DENND3	142247659|142247659	1.000000|1.000000	0.71417|0.71417	0.099000|0.099000	0.21106|0.21106	0.030000|0.030000	0.12068|0.12068	6.746000|6.746000	0.74866|0.74866	1.312000|1.312000	0.45043|0.45043	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.612	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		92	391	0	0	0	1	0	92	391				
TRPM8	79054	broad.mit.edu	37	2	234891813	234891813	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234891813G>A	ENST00000324695.4	+	20	2746	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	TRPM8_ENST00000433712.2_Silent_p.S480S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	902					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TATTCCGTTCGGTCATCTACG	0.572																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2704-2706)tcG>tcA		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						141.0	126.0	131.0					2																	234891813		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234891813G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2706G>A	2.37:g.234891813G>A						TRPM8_ENST00000433712.2_Silent_p.S480S	p.S902S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	20	2746	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	902					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2706G>A	CCDS33407.1																																																																																				0.572	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		27	647	0	0	0	1	0	27	647				
GAS2L2	246176	broad.mit.edu	37	17	34073243	34073243	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34073243T>A	ENST00000254466.6	-	6	1300	c.1273A>T	c.(1273-1275)Aca>Tca	p.T425S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	425					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGCTGTCTGTTTCTTCATGA	0.582																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1273-1275)Aca>Tca		growth arrest-specific 2 like 2							127.0	138.0	134.0					17																	34073243		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073243T>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1273A>T	17.37:g.34073243T>A	ENSP00000254466:p.Thr425Ser					GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	p.T425S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1300	-		Ovarian(249;0.17)	425					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1273A>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	5.545	0.285394	0.10513	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.97	2.76	0.32466	.	0.820742	0.10977	N	0.613112	T	0.11836	0.0288	L	0.51422	1.61	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.27938	-1.0059	10	0.10377	T	0.69	-0.3814	3.8482	0.08943	0.0:0.1962:0.1864:0.6173	.	425	Q8NHY3	GA2L2_HUMAN	S	425	ENSP00000254466:T425S	ENSP00000254466:T425S	T	-	1	0	GAS2L2	31097356	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.053000	0.11846	0.496000	0.27904	0.533000	0.62120	ACA		0.582	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		101	843	0	0	0	1	0	101	843				
OSGIN2	734	broad.mit.edu	37	8	90936852	90936852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90936852C>T	ENST00000297438.2	+	6	965	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	OSGIN2_ENST00000451899.2_Missense_Mutation_p.L248F	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	204					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CGTATCAAGACTCTACAGAGA	0.338																																						ENST00000451899.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(742-744)Ctc>Ttc		oxidative stress induced growth inhibitor family member 2							99.0	108.0	105.0					8																	90936852		2203	4299	6502	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90936852C>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.610C>T	8.37:g.90936852C>T	ENSP00000297438:p.Leu204Phe					OSGIN2_ENST00000297438.2_Missense_Mutation_p.L204F	p.L248F	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		6	1002	+			204						Missense_Mutation	SNP	ENST00000297438.2	37	c.742C>T	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035679	0.35893	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.22539	1.95;1.95	5.01	5.01	0.66863	.	0.191779	0.46758	D	0.000264	T	0.35451	0.0932	L	0.56769	1.78	0.80722	D	1	D;D	0.61080	0.989;0.977	P;P	0.59056	0.735;0.851	T	0.02646	-1.1129	10	0.25751	T	0.34	-7.6292	13.3058	0.60351	0.1583:0.8417:0.0:0.0	.	248;204	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	F	204;248	ENSP00000297438:L204F;ENSP00000396445:L248F	ENSP00000297438:L204F	L	+	1	0	OSGIN2	91006027	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.621000	0.67743	2.343000	0.79666	0.555000	0.69702	CTC		0.338	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		84	459	0	0	0	1	0	84	459				
DYSF	8291	broad.mit.edu	37	2	71797772	71797772	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71797772G>A	ENST00000258104.3	+	29	3352	c.3075G>A	c.(3073-3075)aaG>aaA	p.K1025K	DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000410041.1_Silent_p.K1043K|DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000409366.1_Silent_p.K1026K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1025					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAAGCCGAAGCACTGGGTCC	0.627																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3073-3075)aaG>aaA		dysferlin							62.0	62.0	62.0					2																	71797772		2201	4300	6501	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797772G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3075G>A	2.37:g.71797772G>A						DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000410041.1_Silent_p.K1043K|DYSF_ENST00000409366.1_Silent_p.K1026K	p.K1025K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			29	3352	+			1025					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.3075G>A	CCDS1918.1																																																																																				0.627	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		39	152	0	0	0	1	0	39	152				
GRIN2D	2906	broad.mit.edu	37	19	48908453	48908453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908453G>A	ENST00000263269.3	+	3	1016	c.928G>A	c.(928-930)Gct>Act	p.A310T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	310					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGCGCTCGGCTGGCTGGCG	0.711																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(928-930)Gct>Act		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						10.0	13.0	12.0					19																	48908453		2153	4209	6362	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908453G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.928G>A	19.37:g.48908453G>A	ENSP00000263269:p.Ala310Thr						p.A310T	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	1016	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	310						Missense_Mutation	SNP	ENST00000263269.3	37	c.928G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231789	0.58777	.	.	ENSG00000105464	ENST00000263269	T	0.05382	3.45	4.45	4.45	0.53987	Extracellular ligand-binding receptor (1);	0.161142	0.40728	N	0.001033	T	0.11793	0.0287	N	0.22421	0.69	0.39742	D	0.971764	P	0.51791	0.948	P	0.57371	0.819	T	0.13202	-1.0518	10	0.56958	D	0.05	.	16.2466	0.82448	0.0:0.0:1.0:0.0	.	310	O15399	NMDE4_HUMAN	T	310	ENSP00000263269:A310T	ENSP00000263269:A310T	A	+	1	0	GRIN2D	53600265	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	7.893000	0.87330	2.199000	0.70637	0.561000	0.74099	GCT		0.711	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			4	84	0	0	0	1	0	4	84				
CTR9	9646	broad.mit.edu	37	11	10783548	10783548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10783548C>T	ENST00000361367.2	+	7	1222	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	266					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTATTGATCCTAGCAACCC	0.328																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(796-798)Cct>Tct		CTR9, Paf1/RNA polymerase II complex component							120.0	115.0	117.0					11																	10783548		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10783548C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.796C>T	11.37:g.10783548C>T	ENSP00000355013:p.Pro266Ser						p.P266S	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	7	1222	+			266					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.796C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838796	0.32513	.	.	ENSG00000198730	ENST00000361367	T	0.54479	0.57	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	N	0.05619	-0.005	0.80722	D	1	B	0.24426	0.103	B	0.22753	0.041	T	0.12967	-1.0527	10	0.25106	T	0.35	-13.9099	18.239	0.89960	0.0:1.0:0.0:0.0	.	266	Q6PD62	CTR9_HUMAN	S	266	ENSP00000355013:P266S	ENSP00000355013:P266S	P	+	1	0	CTR9	10740124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.776000	0.68924	2.315000	0.78130	0.460000	0.39030	CCT		0.328	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		45	229	0	0	0	1	0	45	229				
PDE4DIP	9659	broad.mit.edu	37	1	144994627	144994627	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144994627C>T	ENST00000369354.3	-	1	294	c.105G>A	c.(103-105)caG>caA	p.Q35Q	PDE4DIP_ENST00000369359.4_Silent_p.Q172Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q|PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	35					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCATACTTCTGTTGCATGC	0.597			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(514-516)caG>caA		phosphodiesterase 4D interacting protein							148.0	133.0	138.0					1																	144994627		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144994627C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.105G>A	1.37:g.144994627C>T						PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000369354.3_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q	p.Q172Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	554	-			35					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.516G>A	CCDS30824.1																																																																																				0.597	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		50	953	0	0	0	1	0	50	953				
SOX8	30812	broad.mit.edu	37	16	1035032	1035032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1035032C>T	ENST00000293894.3	+	3	1102	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	329					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGTCGCCCACCGAGACGGGTC	0.751																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(985-987)acC>acT		SRY (sex determining region Y)-box 8							4.0	5.0	5.0					16																	1035032		1823	3784	5607	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035032C>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.987C>T	16.37:g.1035032C>T							p.T329T	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	1102	+		Hepatocellular(780;0.00308)	329					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.987C>T	CCDS10428.1																																																																																				0.751	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			17	69	0	0	0	1	0	17	69				
MAST4	375449	broad.mit.edu	37	5	66461256	66461256	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461256C>T	ENST00000403625.2	+	29	6544	c.6249C>T	c.(6247-6249)ccC>ccT	p.P2083P	MAST4_ENST00000403666.1_Silent_p.P1894P|MAST4_ENST00000404260.3_Silent_p.P2086P|MAST4_ENST00000405643.1_Silent_p.P1904P|MAST4_ENST00000261569.7_Silent_p.P1889P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2086						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCAAGCCCGAAGCGCTTC	0.582																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6256-6258)ccC>ccT		microtubule associated serine/threonine kinase family member 4							44.0	52.0	49.0					5																	66461256		1983	4147	6130	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461256C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6249C>T	5.37:g.66461256C>T						MAST4_ENST00000405643.1_Silent_p.P1904P|MAST4_ENST00000403625.2_Silent_p.P2083P|MAST4_ENST00000261569.7_Silent_p.P1889P|MAST4_ENST00000403666.1_Silent_p.P1894P	p.P2086P			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6566	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2086					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.6258C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.866	0.160941	0.09287	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.6	-9.2	0.00682	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0454	7.8471	0.29431	0.0:0.2763:0.3432:0.3804	.	.	.	.	X	1140	.	.	R	+	1	2	MAST4	66497012	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.217000	0.00553	-1.397000	0.02068	-1.000000	0.02509	CGA		0.582	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			60	255	0	0	0	1	0	60	255				
MAST2	23139	broad.mit.edu	37	1	46489643	46489643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46489643T>C	ENST00000361297.2	+	15	2054	c.1771T>C	c.(1771-1773)Tac>Cac	p.Y591H	MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGTGATGGAGTACGTTGAAGG	0.522																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1771-1773)Tac>Cac		microtubule associated serine/threonine kinase 2							78.0	73.0	75.0					1																	46489643		2202	4300	6502	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46489643T>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1771T>C	1.37:g.46489643T>C	ENSP00000354671:p.Tyr591His					MAST2_ENST00000372008.1_Missense_Mutation_p.Y476H|MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	p.Y591H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			15	2054	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		591			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.1771T>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865492	0.91511	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.32753	1.44;1.44;1.44	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.991;0.996;0.999;0.998	T	0.64791	-0.6324	10	0.87932	D	0	-11.6789	15.8795	0.79193	0.0:0.0:0.0:1.0	.	265;521;265;521;591	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	H	591;521;265;476	ENSP00000354671:Y591H;ENSP00000361079:Y521H;ENSP00000361078:Y476H	ENSP00000354671:Y591H	Y	+	1	0	MAST2	46262230	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.221000	0.72209	0.454000	0.30748	TAC		0.522	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		38	193	0	0	0	1	0	38	193				
LILRB2	10288	broad.mit.edu	37	19	54778643	54778643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54778643T>C	ENST00000391749.4	-	14	1962	c.1691A>G	c.(1690-1692)cAg>cGg	p.Q564R	LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.Q563R|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	564					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGTGCAGCTGGGCGTAGGT	0.652																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1687-1689)cAg>cGg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							104.0	96.0	99.0					19																	54778643		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54778643T>C	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1691A>G	19.37:g.54778643T>C	ENSP00000375629:p.Gln564Arg					LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q564R|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R	p.Q563R	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1815	-	Ovarian(34;0.19)		564					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1688A>G	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598581	0.46318	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00625	6.27;6.27;6.25;6.14	1.31	1.31	0.21738	.	.	.	.	.	T	0.02970	0.0088	M	0.87900	2.915	0.18873	N	0.999982	D;D	0.69078	0.997;0.994	D;D	0.75020	0.985;0.979	T	0.33828	-0.9853	9	0.66056	D	0.02	.	4.8943	0.13742	0.0:0.0:0.0:1.0	.	580;564	E7EVY1;Q8N423	.;LIRB2_HUMAN	R	563;563;564;448	ENSP00000375628:Q563R;ENSP00000319960:Q563R;ENSP00000375629:Q564R;ENSP00000410117:Q448R	ENSP00000319960:Q563R	Q	-	2	0	LILRB2	59470455	0.934000	0.31675	0.664000	0.29753	0.267000	0.26476	0.579000	0.23788	0.885000	0.36088	0.246000	0.17985	CAG		0.652	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			108	400	0	0	0	1	0	108	400				
SNRNP27	11017	broad.mit.edu	37	2	70123668	70123668	+	Missense_Mutation	SNP	C	C	T	rs142136097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70123668C>T	ENST00000244227.3	+	3	681	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	86					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						gaGCAAAGAACGGCAGATTAC	0.328																																						ENST00000244227.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(256-258)Cgg>Tgg		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)		C	TRP/ARG	9,4389	15.5+/-35.6	0,9,2190	42.0	44.0	44.0		256	5.3	1.0	2	dbSNP_134	44	0,8598		0,0,4299	yes	missense	SNRNP27	NM_006857.2	101	0,9,6489	TT,TC,CC		0.0,0.2046,0.0693	probably-damaging	86/156	70123668	9,12987	2199	4299	6498	SO:0001583	missense	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70123668C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.256C>T	2.37:g.70123668C>T	ENSP00000244227:p.Arg86Trp					SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W	p.R86W	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			3	681	+			86					Q15410	Missense_Mutation	SNP	ENST00000244227.3	37	c.256C>T	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696442	0.48202	0.002046	0.0	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.31247	1.5;1.5	5.28	5.28	0.74379	Domain of unknown function DUF1777 (1);	0.162035	0.56097	D	0.000034	T	0.50171	0.1600	L	0.55990	1.75	0.49915	D	0.999831	D;D	0.89917	1.0;0.997	D;P	0.79784	0.993;0.898	T	0.46624	-0.9178	10	0.66056	D	0.02	.	14.285	0.66240	0.0:1.0:0.0:0.0	.	86;86	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	W	86	ENSP00000244227:R86W;ENSP00000386608:R86W	ENSP00000244227:R86W	R	+	1	2	SNRNP27	69977172	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.920000	0.40025	2.750000	0.94351	0.585000	0.79938	CGG		0.328	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		29	151	0	0	0	1	0	29	151				
CHD5	26038	broad.mit.edu	37	1	6211106	6211106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6211106C>T	ENST00000262450.3	-	7	1079	c.980G>A	c.(979-981)cGc>cAc	p.R327H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTCTTCTTGCGCCTCCTCTT	0.602																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(979-981)cGc>cAc		chromodomain helicase DNA binding protein 5							98.0	92.0	94.0					1																	6211106		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6211106C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.980G>A	1.37:g.6211106C>T	ENSP00000262450:p.Arg327His					CHD5_ENST00000378021.1_5'UTR	p.R327H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	7	1079	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	327					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.980G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.147784	0.37923	.	.	ENSG00000116254	ENST00000262450	D	0.85088	-1.94	4.0	2.0	0.26442	Zinc finger, FYVE/PHD-type (1);	0.085001	0.47093	U	0.000255	T	0.69593	0.3128	L	0.38175	1.15	0.80722	D	1	P	0.46220	0.874	B	0.32864	0.154	T	0.65100	-0.6250	10	0.87932	D	0	-18.1038	3.128	0.06413	0.3835:0.409:0.0:0.2075	.	327	Q8TDI0	CHD5_HUMAN	H	327	ENSP00000262450:R327H	ENSP00000262450:R327H	R	-	2	0	CHD5	6133693	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	2.966000	0.49208	0.261000	0.21753	-0.370000	0.07254	CGC		0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		24	243	0	0	0	1	0	24	243				
AP4E1	23431	broad.mit.edu	37	15	51207651	51207651	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51207651A>T	ENST00000261842.5	+	3	335	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	77					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCAGAAAATGATGAAGGAATG	0.303																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(229-231)Atg>Ttg		adaptor-related protein complex 4, epsilon 1 subunit							117.0	121.0	119.0					15																	51207651		2195	4292	6487	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51207651A>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.229A>T	15.37:g.51207651A>T	ENSP00000261842:p.Met77Leu					AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	p.M77L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	3	335	+			77					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.229A>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885118	0.51908	.	.	ENSG00000081014	ENST00000261842	T	0.24908	1.83	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.042722	0.85682	N	0.000000	T	0.21427	0.0516	L	0.31578	0.945	0.53005	D	0.999962	B;B	0.16603	0.0;0.018	B;B	0.19666	0.001;0.026	T	0.03000	-1.1084	10	0.33940	T	0.23	-11.7069	14.9133	0.70776	1.0:0.0:0.0:0.0	.	77;77	B4DM48;Q9UPM8	.;AP4E1_HUMAN	L	77	ENSP00000261842:M77L	ENSP00000261842:M77L	M	+	1	0	AP4E1	48994943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.727000	0.91480	2.252000	0.74401	0.529000	0.55759	ATG		0.303	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			60	288	0	0	0	1	0	60	288				
TMEM131	23505	broad.mit.edu	37	2	98429173	98429173	+	Missense_Mutation	SNP	C	C	T	rs369284204		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98429173C>T	ENST00000186436.5	-	16	1885	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	553						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACTCCAAAATCTATGAAACGT	0.299																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1657-1659)Gat>Aat		transmembrane protein 131		C	ASN/ASP	0,3612		0,0,1806	55.0	56.0	55.0		1657	5.6	1.0	2		55	1,8121		0,1,4060	no	missense	TMEM131	NM_015348.1	23	0,1,5866	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	553/1884	98429173	1,11733	1806	4061	5867	SO:0001583	missense	23505					integral to membrane		g.chr2:98429173C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1657G>A	2.37:g.98429173C>T	ENSP00000186436:p.Asp553Asn						p.D553N	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			16	1885	-			553						Missense_Mutation	SNP	ENST00000186436.5	37	c.1657G>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385078	0.82792	0.0	1.23E-4	ENSG00000075568	ENST00000186436	T	0.41400	1.0	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.52653	-0.8547	10	0.44086	T	0.13	-19.9906	18.0982	0.89497	0.0:1.0:0.0:0.0	.	553	Q92545	TM131_HUMAN	N	553	ENSP00000186436:D553N	ENSP00000186436:D553N	D	-	1	0	TMEM131	97795605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.540000	0.73861	2.785000	0.95823	0.591000	0.81541	GAT		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		11	236	0	0	0	1	0	11	236				
C12orf4	57102	broad.mit.edu	37	12	4609488	4609488	+	Missense_Mutation	SNP	C	C	T	rs559422887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4609488C>T	ENST00000261250.3	-	11	1343	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	419										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTAGAATGCCGTGTAATATA	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18662	0.0		0.0	False		,,,				2504	0.0					ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(1255-1257)cGg>cAg		chromosome 12 open reading frame 4							70.0	66.0	67.0					12																	4609488		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4609488C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1256G>A	12.37:g.4609488C>T	ENSP00000261250:p.Arg419Gln					C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	p.R419Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	11	1343	-			419					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.1256G>A	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	33	5.257807	0.95368	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.85399	0.1130	9	0.72032	D	0.01	.	19.7784	0.96405	0.0:1.0:0.0:0.0	.	419	Q9NQ89	CL004_HUMAN	Q	419	.	ENSP00000261250:R419Q	R	-	2	0	C12orf4	4479749	1.000000	0.71417	0.992000	0.48379	0.793000	0.44817	7.412000	0.80091	2.658000	0.90341	0.591000	0.81541	CGG		0.383	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		25	213	0	0	0	1	0	25	213				
KIAA0100	9703	broad.mit.edu	37	17	26947532	26947532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26947532G>A	ENST00000528896.2	-	29	5433	c.5359C>T	c.(5359-5361)Cgg>Tgg	p.R1787W	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W|KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1787						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTCACCTTCCGCTTAGGTTCT	0.493																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(5359-5361)Cgg>Tgg		KIAA0100							147.0	121.0	130.0					17																	26947532		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26947532G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5359C>T	17.37:g.26947532G>A	ENSP00000436773:p.Arg1787Trp					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W	p.R1787W	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			29	5433	-	Lung NSC(42;0.00431)		1787					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5359C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328096	0.60743	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.46063	0.88;0.88	5.24	4.25	0.50352	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64300	-0.6440	10	0.72032	D	0.01	.	14.6988	0.69142	0.0:0.0:0.8534:0.1466	.	1787	Q14667	K0100_HUMAN	W	1787;1757;1787;1644	ENSP00000436773:R1787W;ENSP00000446443:R1644W	ENSP00000005905:R1787W	R	-	1	2	KIAA0100	23971659	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	4.403000	0.59729	1.188000	0.43014	0.462000	0.41574	CGG		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		14	257	0	0	0	1	0	14	257				
C7orf66	154907	broad.mit.edu	37	7	108524165	108524165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108524165G>A	ENST00000379007.2	-	2	301	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	83						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCCCTCATGAATTCTAGTT	0.393																																						ENST00000379007.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(247-249)Cat>Tat		chromosome 7 open reading frame 66							187.0	161.0	169.0					7																	108524165		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524165G>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.247C>T	7.37:g.108524165G>A	ENSP00000368292:p.His83Tyr						p.H83Y	NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN			2	301	-			83						Missense_Mutation	SNP	ENST00000379007.2	37	c.247C>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	g	6.269	0.417657	0.11870	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.84	1.97	0.26223	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.27656	0.184	B	0.32289	0.143	T	0.30119	-0.9989	7	.	.	.	.	4.4772	0.11750	0.1159:0.0:0.6639:0.2202	.	83	A4D0T2	CG066_HUMAN	Y	83	.	.	H	-	1	0	C7orf66	108311401	0.228000	0.23718	0.009000	0.14445	0.085000	0.17905	0.634000	0.24614	0.552000	0.29026	0.552000	0.68991	CAT		0.393	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		59	382	0	0	0	1	0	59	382				
NCLN	56926	broad.mit.edu	37	19	3192496	3192496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3192496G>A	ENST00000246117.4	+	2	644	c.213G>A	c.(211-213)gaG>gaA	p.E71E	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	71					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACACGGAGGCGCGCACGA	0.697																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(211-213)gaG>gaA		nicalin							15.0	15.0	15.0					19																	3192496		2175	4238	6413	SO:0001819	synonymous_variant	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3192496G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.213G>A	19.37:g.3192496G>A						NCLN_ENST00000590671.1_5'UTR	p.E71E	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	2	644	+		Hepatocellular(1079;0.137)	71					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	c.213G>A	CCDS32869.1																																																																																				0.697	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		35	140	0	0	0	1	0	35	140				
NCOA2	10499	broad.mit.edu	37	8	71041048	71041048	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71041048A>G	ENST00000452400.2	-	17	3673	c.3492T>C	c.(3490-3492)agT>agC	p.S1164S	NCOA2_ENST00000267974.4_Silent_p.S252S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1164					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGTGGCATAACTAGGCCGCT	0.552			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3490-3492)agT>agC		nuclear receptor coactivator 2							112.0	108.0	109.0					8																	71041048		1976	4154	6130	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71041048A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3492T>C	8.37:g.71041048A>G						NCOA2_ENST00000267974.4_Silent_p.S252S	p.S1164S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		17	3673	-	Breast(64;0.201)		1164					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.3492T>C	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	9.566	1.119824	0.20877	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.78	-4.55	0.03441	.	.	.	.	.	T	0.49541	0.1563	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.48603	-0.9021	4	.	.	.	.	7.2136	0.25947	0.2704:0.1034:0.5253:0.1009	.	.	.	.	A	265	.	.	V	-	2	0	NCOA2	71203602	0.002000	0.14202	0.002000	0.10522	0.982000	0.71751	-0.913000	0.04042	-0.794000	0.04468	-0.408000	0.06270	GTT		0.552	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			41	187	0	0	0	1	0	41	187				
POGK	57645	broad.mit.edu	37	1	166819057	166819057	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166819057A>G	ENST00000367875.1	+	5	1601	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	POGK_ENST00000367876.4_Missense_Mutation_p.Y414C|POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000536514.1_Missense_Mutation_p.Y329C			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	414	DDE.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TTACCACCGTACATCATTTTG	0.512																																					GBM(76;192 1530 30153 48742)	ENST00000367875.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(1240-1242)tAc>tGc		pogo transposable element with KRAB domain							75.0	68.0	70.0					1																	166819057		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166819057A>G	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1241A>G	1.37:g.166819057A>G	ENSP00000356849:p.Tyr414Cys					POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000536514.1_Missense_Mutation_p.Y329C|POGK_ENST00000367876.4_Missense_Mutation_p.Y414C	p.Y414C			Q9P215	POGK_HUMAN			5	1601	+			414			DDE.		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.1241A>G	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500626	0.26861	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.5	4.36	0.52297	.	0.000000	0.46145	D	0.000308	T	0.30947	0.0781	L	0.27053	0.805	0.40234	D	0.977881	P;D;D	0.65815	0.461;0.995;0.992	B;D;P	0.68039	0.343;0.955;0.75	T	0.21724	-1.0237	8	.	.	.	-29.3824	8.3146	0.32093	0.6828:0.0:0.0:0.3172	.	296;329;414	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	C	296;329;414;414	ENSP00000442763:Y296C;ENSP00000441187:Y329C;ENSP00000356850:Y414C;ENSP00000356849:Y414C	.	Y	+	2	0	POGK	165085681	0.999000	0.42202	0.879000	0.34478	0.341000	0.28922	2.486000	0.45259	1.079000	0.41038	0.533000	0.62120	TAC		0.512	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		38	230	0	0	0	1	0	38	230				
HSPA5	3309	broad.mit.edu	37	9	128001387	128001387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001387C>A	ENST00000324460.6	-	5	1032	c.829G>T	c.(829-831)Gat>Tat	p.D277Y	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	277					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.D277Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TTCCTGACATCTTTGCCCGTC	0.468										Prostate(1;0.17)																												ENST00000324460.6																			1	Substitution - Missense(1)	p.D277Y(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(829-831)Gat>Tat		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						79.0	78.0	78.0					9																	128001387		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001387C>A		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.829G>T	9.37:g.128001387C>A	ENSP00000324173:p.Asp277Tyr	Prostate(1;0.17)					p.D277Y	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			5	1032	-			277					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.829G>T	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697494	0.68386	.	.	ENSG00000044574	ENST00000324460	T	0.01705	4.68	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	H	0.99475	4.585	0.80722	D	1	P	0.44044	0.825	B	0.43728	0.429	T	0.37009	-0.9724	10	0.87932	D	0	-12.4	15.4514	0.75277	0.0:1.0:0.0:0.0	.	277	P11021	GRP78_HUMAN	Y	277	ENSP00000324173:D277Y	ENSP00000324173:D277Y	D	-	1	0	HSPA5	127041208	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.795000	0.85887	1.864000	0.54056	0.462000	0.41574	GAT		0.468	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			55	281	1	0	2.01807e-28	1	2.34828e-28	55	281				
DNAH1	25981	broad.mit.edu	37	3	52357889	52357889	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357889C>T	ENST00000420323.2	+	3	660	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	133	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAAGTTCACCCCAAGAGGTC	0.567																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(397-399)acC>acT		dynein, axonemal, heavy chain 1							41.0	42.0	42.0					3																	52357889		1933	4142	6075	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52357889C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.399C>T	3.37:g.52357889C>T							p.T133T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	660	+			133			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.399C>T	CCDS46842.1																																																																																				0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	27	0	0	0	1	0	6	27				
CIC	23152	broad.mit.edu	37	19	42795086	42795086	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42795086G>A	ENST00000575354.2	+	10	2206	c.2166G>A	c.(2164-2166)ccG>ccA	p.P722P	CIC_ENST00000572681.2_Silent_p.P1631P|CIC_ENST00000160740.3_Silent_p.P722P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	722	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCTCCCCGCTGGGTGTCA	0.647			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4891-4893)ccG>ccA		capicua transcriptional repressor							26.0	27.0	26.0					19																	42795086		2199	4293	6492	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795086G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2166G>A	19.37:g.42795086G>A						CIC_ENST00000160740.3_Silent_p.P722P|CIC_ENST00000575354.2_Silent_p.P722P	p.P1631P			Q96RK0	CIC_HUMAN			11	4961	+		Prostate(69;0.00682)	722					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.4893G>A	CCDS12601.1																																																																																				0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			38	181	0	0	0	1	0	38	181				
ABCA4	24	broad.mit.edu	37	1	94522198	94522198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94522198C>T	ENST00000370225.3	-	15	2427	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	781					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTGCCAGGCGAAGCACAGG	0.582																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2341-2343)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 4							70.0	59.0	63.0					1																	94522198		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94522198C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2341G>A	1.37:g.94522198C>T	ENSP00000359245:p.Ala781Thr					ABCA4_ENST00000535735.1_Intron	p.A781T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	15	2427	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	781					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2341G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	36	5.685822	0.96784	.	.	ENSG00000198691	ENST00000370225	T	0.77750	-1.12	5.36	5.36	0.76844	.	0.051999	0.85682	D	0.000000	T	0.70176	0.3194	M	0.64630	1.985	0.80722	D	1	B	0.34329	0.449	B	0.35470	0.203	T	0.70938	-0.4736	10	0.36615	T	0.2	.	19.4483	0.94857	0.0:1.0:0.0:0.0	.	781	P78363	ABCA4_HUMAN	T	781	ENSP00000359245:A781T	ENSP00000359245:A781T	A	-	1	0	ABCA4	94294786	0.995000	0.38212	0.996000	0.52242	0.986000	0.74619	3.270000	0.51600	2.673000	0.90976	0.561000	0.74099	GCC		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		25	124	0	0	0	1	0	25	124				
LAMA5	3911	broad.mit.edu	37	20	60900582	60900582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60900582C>T	ENST00000252999.3	-	41	5385	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1773	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGTTGCGCGTCTCCGTATGCC	0.617																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(5317-5319)gaG>gaA		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						64.0	49.0	54.0					20																	60900582		2203	4298	6501	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60900582C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5319G>A	20.37:g.60900582C>T							p.E1773E	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		41	5385	-	Breast(26;1.57e-08)		1773			Laminin IV type A.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.5319G>A	CCDS33502.1																																																																																				0.617	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		23	154	0	0	0	1	0	23	154				
TBX6	6911	broad.mit.edu	37	16	30100374	30100374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30100374G>A	ENST00000395224.2	-	4	570	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	TBX6_ENST00000279386.2_Missense_Mutation_p.R171C|TBX6_ENST00000553607.1_Missense_Mutation_p.R171C	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	171					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ATGTAGACACGGTCAGGCAGG	0.632																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(511-513)Cgt>Tgt		T-box 6							60.0	62.0	61.0					16																	30100374		2197	4300	6497	SO:0001583	missense	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100374G>A	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.511C>T	16.37:g.30100374G>A	ENSP00000378650:p.Arg171Cys					TBX6_ENST00000395224.2_Missense_Mutation_p.R171C|TBX6_ENST00000279386.2_Missense_Mutation_p.R171C	p.R171C			O95947	TBX6_HUMAN			3	1204	-			171					Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.511C>T	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092673	0.76756	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.90732	-2.72;-2.72;-2.72	5.8	5.8	0.92144	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.76938	2.355	0.80722	D	1	D;D	0.64830	0.994;0.973	P;B	0.55222	0.771;0.414	D	0.94483	0.7695	10	0.87932	D	0	.	18.8306	0.92137	0.0:0.0:1.0:0.0	.	171;171	O95947;Q9HA44	TBX6_HUMAN;.	C	171	ENSP00000378650:R171C;ENSP00000279386:R171C;ENSP00000461223:R171C	ENSP00000279386:R171C	R	-	1	0	TBX6	30007875	1.000000	0.71417	0.987000	0.45799	0.596000	0.36781	6.172000	0.71932	2.747000	0.94245	0.462000	0.41574	CGT		0.632	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		119	556	0	0	0	1	0	119	556				
LONP2	83752	broad.mit.edu	37	16	48290601	48290601	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48290601A>G	ENST00000285737.4	+	3	642	c.549A>G	c.(547-549)ttA>ttG	p.L183L	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGAAGCTTTACCAGACATCT	0.403																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(547-549)ttA>ttG		lon peptidase 2, peroxisomal							108.0	106.0	107.0					16																	48290601		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48290601A>G	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.549A>G	16.37:g.48290601A>G						LONP2_ENST00000535754.1_Intron	p.L183L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			3	642	+			183			Lon.			Silent	SNP	ENST00000285737.4	37	c.549A>G	CCDS10734.1																																																																																				0.403	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		15	345	0	0	0	1	0	15	345				
FBXO31	79791	broad.mit.edu	37	16	87364932	87364932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87364932C>T	ENST00000311635.7	-	9	1594	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	528					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCATCTCATCGAAGGCCTGT	0.617																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1582-1584)Gat>Aat		F-box protein 31							97.0	71.0	80.0					16																	87364932		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87364932C>T	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1582G>A	16.37:g.87364932C>T	ENSP00000310841:p.Asp528Asn					RP11-178L8.4_ENST00000568879.1_Intron	p.D528N	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	9	1594	-			528					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1582G>A	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236583	0.79800	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.86	4.86	0.63082	.	0.108090	0.64402	D	0.000006	T	0.55513	0.1925	L	0.36672	1.1	0.51767	D	0.999931	P;D	0.54047	0.939;0.964	B;P	0.45971	0.303;0.499	T	0.62695	-0.6800	9	0.72032	D	0.01	-29.6364	18.3459	0.90322	0.0:1.0:0.0:0.0	.	528;420	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	N	528	.	ENSP00000310841:D528N	D	-	1	0	FBXO31	85922433	1.000000	0.71417	0.940000	0.37924	0.953000	0.61014	7.269000	0.78482	2.404000	0.81709	0.561000	0.74099	GAT		0.617	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		51	259	0	0	0	1	0	51	259				
CKMT2	1160	broad.mit.edu	37	5	80550874	80550874	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80550874C>T	ENST00000424301.2	+	6	748	c.510C>T	c.(508-510)agC>agT	p.S170S	CKMT2_ENST00000437669.1_Silent_p.S170S|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	170	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGGCCGCAGCATCCGTGGGC	0.662																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(508-510)agC>agT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						49.0	48.0	49.0					5																	80550874		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80550874C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.510C>T	5.37:g.80550874C>T						CKMT2_ENST00000437669.1_Silent_p.S170S|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA	p.S170S	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	6	748	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	170			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.510C>T	CCDS4053.1																																																																																				0.662	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		68	299	0	0	0	1	0	68	299				
PTPN22	26191	broad.mit.edu	37	1	114414173	114414173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114414173C>T	ENST00000359785.5	-	1	208	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000534519.1_5'UTR	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	25	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCATTGGCAAACTCCTCT	0.413																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(73-75)Gcc>Acc		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							125.0	130.0	128.0					1																	114414173		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114414173C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.73G>A	1.37:g.114414173C>T	ENSP00000352833:p.Ala25Thr					PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|AP4B1-AS1_ENST00000419536.1_RNA	p.A25T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	208	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	25			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.73G>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	3.026	-0.200671	0.06219	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.13901	2.76;3.69;2.76;3.58;2.55	5.28	3.37	0.38596	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.213663	0.38492	N	0.001668	T	0.06234	0.0161	L	0.41906	1.305	0.36113	D	0.844951	P;B;P;B;B;B	0.52463	0.946;0.002;0.953;0.004;0.371;0.001	P;B;B;B;B;B	0.46452	0.517;0.002;0.375;0.008;0.092;0.003	T	0.26677	-1.0096	10	0.42905	T	0.14	.	8.2142	0.31501	0.1385:0.7143:0.0:0.1471	.	25;25;25;25;25;25	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	T	25	ENSP00000433141:A25T;ENSP00000352833:A25T;ENSP00000435176:A25T;ENSP00000388229:A25T;ENSP00000432674:A25T	ENSP00000346621:A25T	A	-	1	0	PTPN22	114215696	0.869000	0.29996	0.777000	0.31699	0.001000	0.01503	0.975000	0.29449	0.355000	0.24131	-2.636000	0.00152	GCC		0.413	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		73	313	0	0	0	1	0	73	313				
PARP11	57097	broad.mit.edu	37	12	3939112	3939112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3939112C>T	ENST00000228820.4	-	2	235	c.91G>A	c.(91-93)Gat>Aat	p.D31N	PARP11_ENST00000397096.2_Missense_Mutation_p.D24N|PARP11_ENST00000447133.3_5'UTR|PARP11_ENST00000427057.2_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	24	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CACTGGGTATCTGACGTGTCC	0.423																																						ENST00000228820.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17						c.(91-93)Gat>Aat		poly (ADP-ribose) polymerase family, member 11							180.0	161.0	168.0					12																	3939112		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3939112C>T	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.91G>A	12.37:g.3939112C>T	ENSP00000228820:p.Asp31Asn					PARP11_ENST00000397096.2_Missense_Mutation_p.D24N|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	p.D31N	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		2	235	-			24			WWE.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.91G>A	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223274	0.95139	.	.	ENSG00000111224	ENST00000397096;ENST00000228820	T;T	0.29142	1.58;1.58	5.52	5.52	0.82312	WWE domain (1);	0.147781	0.64402	D	0.000013	T	0.46444	0.1393	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.64321	0.876;0.924	T	0.07214	-1.0784	10	0.30078	T	0.28	.	16.978	0.86319	0.0:1.0:0.0:0.0	.	31;24	Q9NR21-4;Q9NR21	.;PAR11_HUMAN	N	24;31	ENSP00000380284:D24N;ENSP00000228820:D31N	ENSP00000228820:D31N	D	-	1	0	PARP11	3809373	1.000000	0.71417	0.138000	0.22173	0.901000	0.52897	6.884000	0.75600	2.873000	0.98535	0.563000	0.77884	GAT		0.423	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			11	315	0	0	0	1	0	11	315				
TYW1	55253	broad.mit.edu	37	7	66660217	66660217	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66660217C>T	ENST00000359626.5	+	15	2034	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	624					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGTGCCCTGGCATGAGGAAGT	0.488																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1870-1872)Cat>Tat		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							163.0	153.0	156.0					7																	66660217		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66660217C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1870C>T	7.37:g.66660217C>T	ENSP00000352645:p.His624Tyr						p.H624Y	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			15	2034	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	624					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1870C>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943301	0.53079	.	.	ENSG00000198874	ENST00000359626	T	0.51574	0.7	3.7	3.7	0.42460	tRNA wybutosine-synthesis (1);	0.000000	0.64402	U	0.000001	T	0.46870	0.1415	L	0.56340	1.77	0.80722	D	1	B	0.25235	0.121	B	0.34779	0.189	T	0.45891	-0.9230	10	0.33940	T	0.23	.	13.2966	0.60301	0.0:1.0:0.0:0.0	.	624	Q9NV66	TYW1_HUMAN	Y	624	ENSP00000352645:H624Y	ENSP00000352645:H624Y	H	+	1	0	TYW1	66297652	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.626000	0.74253	1.755000	0.51935	0.514000	0.50259	CAT		0.488	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		105	421	0	0	0	1	0	105	421				
MTF1	4520	broad.mit.edu	37	1	38287880	38287880	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38287880G>T	ENST00000373036.4	-	9	1820	c.1680C>A	c.(1678-1680)atC>atA	p.I560I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	560					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGACTGCAGGATAGCTGTGT	0.473																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1678-1680)atC>atA		metal-regulatory transcription factor 1							159.0	155.0	156.0					1																	38287880		2203	4300	6503	SO:0001819	synonymous_variant	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38287880G>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1680C>A	1.37:g.38287880G>T							p.I560I	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			9	1820	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	560					B2RAK6|Q96CB1	Silent	SNP	ENST00000373036.4	37	c.1680C>A	CCDS30676.1																																																																																				0.473	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		50	228	1	0	4.21674e-32	1	4.97474e-32	50	228				
GAS7	8522	broad.mit.edu	37	17	9837492	9837492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9837492G>T	ENST00000432992.2	-	9	1036	c.876C>A	c.(874-876)ttC>ttA	p.F292L	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.F228L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000585266.1_Missense_Mutation_p.F232L|GAS7_ENST00000542249.1_Missense_Mutation_p.F228L|GAS7_ENST00000323816.4_Missense_Mutation_p.F232L|GAS7_ENST00000396115.2_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	292					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCTTGGCAGAGAACTTGAGGT	0.532			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(694-696)ttC>ttA		growth arrest-specific 7							123.0	91.0	102.0					17																	9837492		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9837492G>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.876C>A	17.37:g.9837492G>T	ENSP00000407552:p.Phe292Leu					GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000585266.1_Missense_Mutation_p.F228L|GAS7_ENST00000579158.1_Missense_Mutation_p.F244L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.F228L|GAS7_ENST00000432992.2_Missense_Mutation_p.F292L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.F237L	p.F232L	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			9	1006	-			292			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.696C>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929126	0.73327	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.15256	2.44	4.79	3.75	0.43078	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	N	0.25647	0.755	0.58432	D	0.999997	P;P;B;P	0.52061	0.592;0.95;0.28;0.95	P;P;B;P	0.59424	0.688;0.857;0.144;0.835	T	0.01059	-1.1465	9	.	.	.	-14.102	5.7423	0.18100	0.1848:0.0:0.8152:0.0	.	244;232;152;292	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	L	292;232;231;152;232;106	ENSP00000379421:F232L	.	F	-	3	2	GAS7	9778217	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.687000	0.46976	2.506000	0.84524	0.655000	0.94253	TTC		0.532	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		22	165	1	0	1.22574e-08	1	1.28258e-08	22	165				
FBXO24	26261	broad.mit.edu	37	7	100189512	100189512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100189512G>A	ENST00000241071.6	+	4	867	c.545G>A	c.(544-546)cGt>cAt	p.R182H	FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	182					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGTGTCGTGGAGCCAAG	0.552																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(544-546)cGt>cAt		F-box protein 24							76.0	68.0	71.0					7																	100189512		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100189512G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.545G>A	7.37:g.100189512G>A	ENSP00000241071:p.Arg182His					FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H|FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|PCOLCE-AS1_ENST00000442166.2_RNA	p.R182H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			4	867	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		182					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.545G>A	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450584	0.63290	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T	0.50001	2.38;0.76;0.76;2.39;2.37	4.89	4.01	0.46588	.	0.099062	0.44902	D	0.000415	T	0.29556	0.0737	N	0.08118	0	0.33463	D	0.585146	P;D;P;D	0.57257	0.923;0.968;0.923;0.979	B;B;B;P	0.47786	0.247;0.354;0.247;0.557	T	0.35051	-0.9804	9	.	.	.	-10.6204	7.7322	0.28793	0.1875:0.0:0.8125:0.0	.	170;220;182;168	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	182;168;168;187;170;220	ENSP00000241071:R182H;ENSP00000353821:R168H;ENSP00000419602:R168H;ENSP00000420239:R170H;ENSP00000416558:R220H	.	R	+	2	0	FBXO24	100027448	0.998000	0.40836	0.852000	0.33557	0.784000	0.44337	3.124000	0.50461	1.296000	0.44742	0.558000	0.71614	CGT		0.552	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			79	364	0	0	0	1	0	79	364				
IKBKB	3551	broad.mit.edu	37	8	42183581	42183581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42183581G>A	ENST00000520810.1	+	20	2266	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	694					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GCCCTCCACGGCCTCCAACAG	0.597																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(2080-2082)Gcc>Acc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						89.0	75.0	79.0					8																	42183581		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42183581G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.2080G>A	8.37:g.42183581G>A	ENSP00000430684:p.Ala694Thr					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T|IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T	p.A694T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		20	2266	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	694					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.2080G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126295	0.06795	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.75050	-0.82;-0.9;-0.72;2.92	5.59	3.82	0.43975	.	0.700478	0.14486	N	0.316644	T	0.45155	0.1328	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.10450	0.001;0.005;0.001;0.001	T	0.31586	-0.9938	10	0.19590	T	0.45	-19.7841	7.2678	0.26239	0.1521:0.1388:0.7091:0.0	.	635;692;471;694	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	T	694;635;692;471	ENSP00000430684:A694T;ENSP00000404920:A635T;ENSP00000430868:A692T;ENSP00000369030:A471T	ENSP00000369030:A471T	A	+	1	0	IKBKB	42302738	0.004000	0.15560	0.106000	0.21319	0.013000	0.08279	0.339000	0.19875	0.743000	0.32719	-0.448000	0.05591	GCC		0.597	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			65	261	0	0	0	1	0	65	261				
MDC1	9656	broad.mit.edu	37	6	30680738	30680738	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30680738G>A	ENST00000376406.3	-	5	1628	c.981C>T	c.(979-981)atC>atT	p.I327I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.I327I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	327	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGTCGCTGTCGATGAAGCCAA	0.532								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(979-981)atC>atT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							122.0	126.0	124.0					6																	30680738		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680738G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.981C>T	6.37:g.30680738G>A						MDC1_ENST00000376405.2_Silent_p.I327I|MDC1-AS1_ENST00000442150.1_RNA	p.I327I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	1628	-			327			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.981C>T	CCDS34384.1																																																																																				0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		11	555	0	0	0	1	0	11	555				
OSBPL11	114885	broad.mit.edu	37	3	125286413	125286413	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125286413T>C	ENST00000296220.5	-	6	982	c.693A>G	c.(691-693)caA>caG	p.Q231Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	231					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTAAGTCTCTTTGTTGTCCTT	0.388																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(691-693)caA>caG		oxysterol binding protein-like 11							164.0	144.0	151.0					3																	125286413		2203	4300	6503	SO:0001819	synonymous_variant	114885				lipid transport		lipid binding	g.chr3:125286413T>C	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.693A>G	3.37:g.125286413T>C							p.Q231Q	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			6	982	-			231					A8K9I7	Silent	SNP	ENST00000296220.5	37	c.693A>G	CCDS3033.1																																																																																				0.388	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		36	322	0	0	0	1	0	36	322				
TOPORS	10210	broad.mit.edu	37	9	32542990	32542990	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32542990C>T	ENST00000360538.2	-	3	1649	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TOPORS_ENST00000379858.1_Silent_p.E446E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	511	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCACTGTCTCCATTTTCT	0.433																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1531-1533)gaG>gaA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							99.0	84.0	89.0					9																	32542990		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542990C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1533G>A	9.37:g.32542990C>T						TOPORS_ENST00000379858.1_Silent_p.E446E	p.E511E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1649	-			511			Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.1533G>A	CCDS6527.1																																																																																				0.433	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		52	334	0	0	0	1	0	52	334				
BCO1	53630	broad.mit.edu	37	16	81298250	81298250	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81298250T>G	ENST00000258168.2	+	5	938	c.477T>G	c.(475-477)gaT>gaG	p.D159E	BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGCAGGTTGATTATCGTAAAT	0.398																																						ENST00000258168.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(475-477)gaT>gaG		beta-carotene 15,15'-monooxygenase 1							146.0	130.0	135.0					16																	81298250		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81298250T>G																												ENST00000258168.2:c.477T>G	16.37:g.81298250T>G	ENSP00000258168:p.Asp159Glu					BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	p.D159E	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			5	938	+			159						Missense_Mutation	SNP	ENST00000258168.2	37	c.477T>G	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273056	0.59649	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95656	-3.77;-3.77	4.71	3.61	0.41365	.	0.365800	0.33834	N	0.004502	D	0.96790	0.8952	M	0.85197	2.74	0.42593	D	0.99325	D;D	0.63880	0.993;0.96	D;P	0.63283	0.913;0.856	D	0.95147	0.8269	10	0.39692	T	0.17	-14.6836	7.3337	0.26596	0.0:0.2278:0.0:0.7722	.	90;159	E7EM88;Q9HAY6	.;BCDO1_HUMAN	E	159;90	ENSP00000258168:D159E;ENSP00000400586:D90E	ENSP00000258168:D159E	D	+	3	2	BCMO1	79855751	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.050000	0.30404	0.761000	0.33130	0.449000	0.29647	GAT		0.398	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			157	424	0	0	0	1	0	157	424				
ZNF528	84436	broad.mit.edu	37	19	52918959	52918959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52918959C>T	ENST00000360465.3	+	7	1280	c.854C>T	c.(853-855)gCa>gTa	p.A285V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGCTTGCACAACATCAA	0.368																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(853-855)gCa>gTa		zinc finger protein 528							91.0	96.0	94.0					19																	52918959		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918959C>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.854C>T	19.37:g.52918959C>T	ENSP00000353652:p.Ala285Val					ZNF528_ENST00000391788.2_3'UTR	p.A285V	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1280	+			285					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.854C>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	5.309	0.242377	0.10077	.	.	ENSG00000167555	ENST00000360465	T	0.36520	1.25	1.99	-3.97	0.04094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.21617	0.685	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.16070	-1.0415	9	0.26408	T	0.33	.	6.4275	0.21778	0.1437:0.564:0.0:0.2923	.	285	Q3MIS6	ZN528_HUMAN	V	285	ENSP00000353652:A285V	ENSP00000353652:A285V	A	+	2	0	ZNF528	57610771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.317000	0.02707	-1.826000	0.01205	-1.564000	0.00881	GCA		0.368	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		75	397	0	0	0	1	0	75	397				
ERC2	26059	broad.mit.edu	37	3	56468991	56468991	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56468991A>G	ENST00000288221.6	-	2	300	c.45T>C	c.(43-45)ccT>ccC	p.P15P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	15						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGGATCTGGAAGGGCTACCTT	0.458																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(43-45)ccT>ccC		ELKS/RAB6-interacting/CAST family member 2							105.0	99.0	101.0					3																	56468991		1901	4124	6025	SO:0001819	synonymous_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468991A>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.45T>C	3.37:g.56468991A>G							p.P15P	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	300	-			15					Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	c.45T>C	CCDS46851.1																																																																																				0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		33	186	0	0	0	1	0	33	186				
SLC9A7	84679	broad.mit.edu	37	X	46480434	46480434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:46480434G>T	ENST00000328306.4	-	15	1823	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	600					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTGTACCACAGCCTGAATATC	0.463																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(1798-1800)Ctg>Atg		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							167.0	99.0	122.0					X																	46480434		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46480434G>T	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1798C>A	X.37:g.46480434G>T	ENSP00000330320:p.Leu600Met					SLC9A7_ENST00000464933.1_5'UTR	p.L600M	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			15	1823	-			600					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.1798C>A	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	g	7.689	0.690640	0.15039	.	.	ENSG00000065923	ENST00000328306	T	0.46063	0.88	5.34	4.48	0.54585	.	0.149626	0.45361	D	0.000364	T	0.27454	0.0674	L	0.35341	1.055	0.38746	D	0.953991	B	0.24618	0.107	B	0.19946	0.027	T	0.14448	-1.0472	10	0.33940	T	0.23	.	5.0467	0.14487	0.1844:0.1684:0.6471:0.0	.	600	Q96T83	SL9A7_HUMAN	M	600	ENSP00000330320:L600M	ENSP00000330320:L600M	L	-	1	2	SLC9A7	46365378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.914000	0.28624	1.234000	0.43709	0.597000	0.82753	CTG		0.463	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		34	83	1	0	2.19358e-23	1	2.49351e-23	34	83				
BPIFC	254240	broad.mit.edu	37	22	32808119	32808119	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32808119G>A	ENST00000397452.1	-	0	2091				RTCB_ENST00000216038.5_Silent_p.L9L|RTCB_ENST00000451746.2_Silent_p.L9L			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AAGAACTGCAGCTCATCATTA	0.537																																						ENST00000216038.5																			0											c.(25-27)Ctg>Ttg		RNA 2',3'-cyclic phosphate and 5'-OH ligase							91.0	92.0	92.0					22																	32808119		2203	4300	6503	SO:0001628	intergenic_variant	51493							g.chr22:32808119G>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273		22.37:g.32808119G>A						RTCB_ENST00000451746.2_Silent_p.L9L	p.L9L	NM_014306.4	NP_055121.1					1	123	-								A2RRF1	Silent	SNP	ENST00000397452.1	37	c.25C>T	CCDS13906.1																																																																																				0.537	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		142	597	0	0	0	1	0	142	597				
AP4E1	23431	broad.mit.edu	37	15	51289963	51289963	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51289963G>A	ENST00000261842.5	+	18	2893	c.2787G>A	c.(2785-2787)gtG>gtA	p.V929V	AP4E1_ENST00000560508.1_Silent_p.V854V|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	929					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTATATCAGTGTCTTCTTATA	0.323																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2785-2787)gtG>gtA		adaptor-related protein complex 4, epsilon 1 subunit							56.0	62.0	60.0					15																	51289963		2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51289963G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2787G>A	15.37:g.51289963G>A						AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.V854V	p.V929V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	18	2893	+			929					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.2787G>A	CCDS32240.1																																																																																				0.323	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			53	258	0	0	0	1	0	53	258				
TH	7054	broad.mit.edu	37	11	2189854	2189854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189854G>A	ENST00000381178.1	-	4	465	c.447C>T	c.(445-447)gcC>gcT	p.A149A	TH_ENST00000352909.3_Silent_p.A118A|TH_ENST00000381175.1_Silent_p.A145A|TH_ENST00000333684.5_Silent_p.A122A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	149					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCGGCCTCTGGGCGGGCCGGG	0.622																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(445-447)gcC>gcT		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						11.0	15.0	14.0					11																	2189854		2176	4284	6460	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189854G>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.447C>T	11.37:g.2189854G>A						TH_ENST00000381175.1_Silent_p.A145A|TH_ENST00000333684.5_Silent_p.A122A|TH_ENST00000352909.3_Silent_p.A118A	p.A149A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	4	465	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	149					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.447C>T	CCDS7731.1																																																																																				0.622	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		49	133	0	0	0	1	0	49	133				
FCGBP	8857	broad.mit.edu	37	19	40357401	40357401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357401C>T	ENST00000221347.6	-	34	15919	c.15912G>A	c.(15910-15912)acG>acA	p.T5304T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5304	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGGAGTCAACGTCACCATCC	0.542																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15910-15912)acG>acA		Fc fragment of IgG binding protein							134.0	127.0	129.0					19																	40357401		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40357401C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15912G>A	19.37:g.40357401C>T							p.T5304T	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15919	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5304			VWFD 13.		O95784	Silent	SNP	ENST00000221347.6	37	c.15912G>A	CCDS12546.1																																																																																				0.542	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		32	286	0	0	0	1	0	32	286				
ZC3H7B	23264	broad.mit.edu	37	22	41753416	41753416	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41753416G>A	ENST00000352645.4	+	23	3174	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCTGCCACCGCCACCACTGG	0.662																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2917-2919)Gcc>Acc		zinc finger CCCH-type containing 7B																																				SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753416G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2917G>A	22.37:g.41753416G>A	ENSP00000345793:p.Ala973Thr					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	p.A973T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3174	+			989					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.2917G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905514	0.17760	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12039	2.72;2.72	4.48	-8.95	0.00765	.	1.536640	0.03786	N	0.262041	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28202	-1.0051	9	0.15499	T	0.54	-0.9031	6.3307	0.21269	0.5147:0.0:0.2934:0.1919	.	973	Q9UGR2-2	.	T	973	ENSP00000345793:A973T;ENSP00000263243:A973T	ENSP00000263243:A973T	A	+	1	0	ZC3H7B	40083362	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.164000	0.09983	-2.096000	0.00852	-1.842000	0.00583	GCC		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		143	611	0	0	0	1	0	143	611				
KMT2C	58508	broad.mit.edu	37	7	151842307	151842307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151842307G>A	ENST00000262189.6	-	54	14323	c.14105C>T	c.(14104-14106)gCc>gTc	p.A4702V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A4759V|KMT2C_ENST00000485655.2_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4702					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGGGTTAACGGCAAGAGGAAG	0.448																																						ENST00000355193.2																			0											c.(14275-14277)gCc>gTc		lysine (K)-specific methyltransferase 2C							97.0	86.0	90.0					7																	151842307		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151842307G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14105C>T	7.37:g.151842307G>A	ENSP00000262189:p.Ala4702Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A4702V	p.A4759V							55	14494	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.14276C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876461	0.72180	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.89746	-1.9;-1.89;-2.56	5.23	5.23	0.72850	.	0.000000	0.44285	U	0.000465	D	0.92701	0.7680	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.80764	0.994;0.893;0.893	D	0.90036	0.4138	10	0.22109	T	0.4	.	19.161	0.93531	0.0:0.0:1.0:0.0	.	4702;3820;4759	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	4702;4759;1319	ENSP00000262189:A4702V;ENSP00000347325:A4759V;ENSP00000410411:A1319V	ENSP00000262189:A4702V	A	-	2	0	MLL3	151473240	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	5.497000	0.66924	2.607000	0.88179	0.655000	0.94253	GCC		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			79	306	0	0	0	1	0	79	306				
NIN	51199	broad.mit.edu	37	14	51224230	51224230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224230G>A	ENST00000382041.3	-	18	3708	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	NIN_ENST00000245441.5_Missense_Mutation_p.S1173F|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F|NIN_ENST00000530997.2_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.S1173F	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1173					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGAAGCTTCAGACTCCTCTAT	0.493			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3517-3519)tCt>tTt		ninein (GSK3B interacting protein)							125.0	130.0	128.0					14																	51224230		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224230G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3518C>T	14.37:g.51224230G>A	ENSP00000371472:p.Ser1173Phe					NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.S1173F|NIN_ENST00000382041.3_Missense_Mutation_p.S1173F|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F	p.S1173F	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3708	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1173					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.3518C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	8.869	0.948780	0.18356	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T	0.08282	3.37;3.11;3.11;3.11	5.78	3.91	0.45181	.	0.571186	0.18572	N	0.137314	T	0.15955	0.0384	M	0.67953	2.075	0.20074	N	0.999934	D;D;D;D	0.56746	0.968;0.968;0.977;0.96	P;P;P;P	0.54100	0.68;0.727;0.742;0.605	T	0.11179	-1.0598	10	0.48119	T	0.1	-6.9812	5.2825	0.15682	0.2186:0.2878:0.4936:0.0	.	1179;1173;1173;1173	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.;.;NIN_HUMAN;.	F	1173;1156;1179;1173;1173;1173	ENSP00000245441:S1173F;ENSP00000371472:S1173F;ENSP00000324210:S1173F;ENSP00000412391:S1173F	ENSP00000245441:S1173F	S	-	2	0	NIN	50293980	0.011000	0.17503	0.912000	0.35992	0.102000	0.19082	0.647000	0.24812	0.761000	0.33130	0.563000	0.77884	TCT		0.493	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		21	835	0	0	0	1	0	21	835				
PSORS1C1	170679	broad.mit.edu	37	6	31084238	31084238	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084238G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Missense_Mutation_p.T385M|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CTTGGAGCCCGTGGAGCCGCC	0.632																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1153-1155)aCg>aTg		corneodesmosin							16.0	20.0	19.0					6																	31084238		2195	4291	6486	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084238G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1570G>A	6.37:g.31084238G>A						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.T385M	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1180	-			385			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.1154C>T	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761562	0.31228	.	.	ENSG00000204539	ENST00000376288	T	0.05996	3.36	3.92	-2.69	0.06022	.	3.273400	0.01140	N	0.006192	T	0.00936	0.0031	N	0.14661	0.345	0.09310	N	1	D	0.52996	0.957	B	0.35550	0.205	T	0.36720	-0.9736	10	0.46703	T	0.11	14.5951	2.5965	0.04855	0.1111:0.1255:0.4233:0.3401	.	385	Q15517	CDSN_HUMAN	M	385	ENSP00000365465:T385M	ENSP00000365465:T385M	T	-	2	0	CDSN	31192217	0.000000	0.05858	0.000000	0.03702	0.701000	0.40568	-3.416000	0.00478	-0.269000	0.09298	0.471000	0.43371	ACG		0.632	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		4	72	0	0	0	1	0	4	72				
ZNF239	8187	broad.mit.edu	37	10	44053102	44053102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053102C>A	ENST00000306006.6	-	2	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTCTTTTAACTGGCCATTCT	0.448																																						ENST00000306006.6																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(424-426)caG>caT		zinc finger protein 239							105.0	96.0	99.0					10																	44053102		1893	4117	6010	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053102C>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.426G>T	10.37:g.44053102C>A	ENSP00000307774:p.Gln142His					ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H	p.Q142H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN			2	1078	-			142					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.426G>T	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726442	0.48833	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.1	-1.44	0.08856	.	.	.	.	.	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.40572	-0.9556	9	0.72032	D	0.01	-18.9363	4.2722	0.10792	0.0:0.3819:0.1717:0.4463	.	142	Q16600	ZN239_HUMAN	H	142	ENSP00000307774:Q142H;ENSP00000363569:Q142H;ENSP00000398202:Q142H;ENSP00000443907:Q142H	ENSP00000307774:Q142H	Q	-	3	2	ZNF239	43373108	.	.	0.003000	0.11579	0.652000	0.38707	.	.	-0.263000	0.09378	-0.136000	0.14681	CAG		0.448	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			62	373	1	0	9.16383e-17	1	1.00836e-16	62	373				
ALPI	248	broad.mit.edu	37	2	233321314	233321314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321314C>T	ENST00000295463.3	+	3	286	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	70					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACGGTGACAGCCACCAGGATC	0.627																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(208-210)gCc>gTc		alkaline phosphatase, intestinal							37.0	39.0	38.0					2																	233321314		2203	4299	6502	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321314C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.209C>T	2.37:g.233321314C>T	ENSP00000295463:p.Ala70Val						p.A70V	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	3	286	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	70					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.209C>T	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111299	0.77210	.	.	ENSG00000163295	ENST00000295463	D	0.97772	-4.53	5.7	5.7	0.88788	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.108147	0.64402	D	0.000007	D	0.99184	0.9717	H	0.95745	3.715	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	.	18.8019	0.92022	0.0:1.0:0.0:0.0	.	70	P09923	PPBI_HUMAN	V	70	ENSP00000295463:A70V	ENSP00000295463:A70V	A	+	2	0	ALPI	233029558	1.000000	0.71417	0.758000	0.31321	0.178000	0.23041	7.441000	0.80485	2.861000	0.98227	0.655000	0.94253	GCC		0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		26	144	0	0	0	1	0	26	144				
GRIN1	2902	broad.mit.edu	37	9	140057086	140057086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140057086G>A	ENST00000371561.3	+	14	3005	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	636					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCATGGTGTGGGCCGGCTTTG	0.701																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1906-1908)tgG>tgA		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						21.0	25.0	24.0					9																	140057086		2199	4293	6492	SO:0001587	stop_gained	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140057086G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1908G>A	9.37:g.140057086G>A	ENSP00000360616:p.Trp636*					GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*	p.W636*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	14	3005	+	all_cancers(76;0.0926)		636					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Nonsense_Mutation	SNP	ENST00000371561.3	37	c.1908G>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	g	40	8.208381	0.98706	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	.	.	.	4.54	4.54	0.55810	.	0.185434	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8918	0.79305	0.0:0.0:1.0:0.0	.	.	.	.	X	636;636;636;636;657;657;657;636;657	.	ENSP00000316696:W636X	W	+	3	0	GRIN1	139176907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.543000	0.82106	2.093000	0.63338	0.450000	0.29827	TGG		0.701	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		19	109	0	0	0	1	0	19	109				
SFXN1	94081	broad.mit.edu	37	5	174940564	174940564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940564C>T	ENST00000321442.5	+	7	949	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	232					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTTGTCGTGTCCAGGATTCTC	0.522																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(694-696)tCc>tTc		sideroflexin 1							102.0	92.0	96.0					5																	174940564		2203	4300	6503	SO:0001583	missense	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174940564C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.695C>T	5.37:g.174940564C>T	ENSP00000316905:p.Ser232Phe						p.S232F	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	949	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	232					B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	c.695C>T	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638720	0.67130	.	.	ENSG00000164466	ENST00000321442	T	0.45668	0.89	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.82045	-0.0652	10	0.87932	D	0	-34.1264	17.5333	0.87820	0.0:1.0:0.0:0.0	.	232	Q9H9B4	SFXN1_HUMAN	F	232	ENSP00000316905:S232F	ENSP00000316905:S232F	S	+	2	0	SFXN1	174873170	1.000000	0.71417	0.986000	0.45419	0.178000	0.23041	7.572000	0.82409	2.434000	0.82447	0.462000	0.41574	TCC		0.522	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		51	269	0	0	0	1	0	51	269				
ALMS1	7840	broad.mit.edu	37	2	73718408	73718408	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73718408G>T	ENST00000264448.6	+	10	9430	c.9319G>T	c.(9319-9321)Gca>Tca	p.A3107S	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3107					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAAACCTGTAGCACAGGATCA	0.393																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(9319-9321)Gca>Tca		Alstrom syndrome 1							101.0	96.0	97.0					2																	73718408		1869	4108	5977	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718408G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9319G>T	2.37:g.73718408G>T	ENSP00000264448:p.Ala3107Ser					ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S	p.A3107S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	9430	+			3107					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9319G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059890	0.55325	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06849	3.25;3.25	4.0	3.12	0.35913	.	0.624751	0.14322	N	0.326937	T	0.13286	0.0322	L	0.48642	1.525	0.80722	D	1	P;P;P	0.37636	0.603;0.603;0.603	P;P;P	0.48368	0.575;0.575;0.575	T	0.05386	-1.0888	10	0.48119	T	0.1	.	7.6443	0.28311	0.1148:0.0:0.8852:0.0	.	3107;3065;3107	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	3065;3107	ENSP00000386627:A3065S;ENSP00000264448:A3107S	ENSP00000264448:A3107S	A	+	1	0	ALMS1	73571916	0.990000	0.36364	0.978000	0.43139	0.961000	0.63080	0.899000	0.28417	1.279000	0.44446	0.580000	0.79431	GCA		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		18	462	1	0	0.000132079	1	0.000134276	18	462				
SERTAD3	29946	broad.mit.edu	37	19	40947463	40947463	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40947463G>T	ENST00000322354.3	-	2	1021	c.525C>A	c.(523-525)ttC>ttA	p.F175L	SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L|SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	175					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGGGCACAGAAGAGGTTGT	0.527																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(523-525)ttC>ttA		SERTA domain containing 3							91.0	97.0	94.0					19																	40947463		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947463G>T	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.525C>A	19.37:g.40947463G>T	ENSP00000325414:p.Phe175Leu					SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L	p.F175L	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	1021	-			175					B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.525C>A	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533168	0.45073	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	3.9	0.45041	.	0.172395	0.39341	N	0.001382	T	0.28797	0.0714	N	0.08118	0	0.34746	D	0.731295	B	0.12013	0.005	B	0.08055	0.003	T	0.24154	-1.0168	9	0.22706	T	0.39	-14.1294	9.171	0.37081	0.1658:0.0:0.8342:0.0	.	175	Q9UJW9	SRTD3_HUMAN	L	175	.	ENSP00000325414:F175L	F	-	3	2	SERTAD3	45639303	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.376000	0.52417	0.885000	0.36088	0.655000	0.94253	TTC		0.527	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		96	557	1	0	3.21569e-47	1	3.95668e-47	96	557				
BSN	8927	broad.mit.edu	37	3	49692063	49692063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49692063G>A	ENST00000296452.4	+	5	5188	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1692					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)		TCTTGCTGTGGAAGCGAGGAA	0.587																																						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.(5074-5076)Gaa>Aaa		bassoon presynaptic cytomatrix protein							103.0	96.0	98.0					3																	49692063		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692063G>A	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.5074G>A	3.37:g.49692063G>A	ENSP00000296452:p.Glu1692Lys						p.E1692K	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)	5	5188	+			1692					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.5074G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602687	0.66445	.	.	ENSG00000164061	ENST00000296452	T	0.24350	1.86	5.16	5.16	0.70880	.	0.051936	0.85682	D	0.000000	T	0.49355	0.1552	M	0.64997	1.995	0.58432	D	0.999999	D	0.76494	0.999	D	0.69654	0.965	T	0.47812	-0.9088	10	0.54805	T	0.06	.	18.6541	0.91441	0.0:0.0:1.0:0.0	.	1692	Q9UPA5	BSN_HUMAN	K	1692	ENSP00000296452:E1692K	ENSP00000296452:E1692K	E	+	1	0	BSN	49667067	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.420000	0.82092	0.561000	0.74099	GAA		0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		97	349	0	0	0	1	0	97	349				
AP3D1	8943	broad.mit.edu	37	19	2121812	2121812	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121812T>C	ENST00000345016.5	-	12	1253	c.1022A>G	c.(1021-1023)cAc>cGc	p.H341R	AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R|AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000355272.6_Missense_Mutation_p.H341R|AP3D1_ENST00000590683.1_5'UTR	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	341					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTCCTTGTGGGACTGCAC	0.637																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1021-1023)cAc>cGc		adaptor-related protein complex 3, delta 1 subunit							126.0	144.0	138.0					19																	2121812		2137	4221	6358	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121812T>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1022A>G	19.37:g.2121812T>C	ENSP00000344055:p.His341Arg					AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000345016.5_Missense_Mutation_p.H341R|AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R	p.H341R	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1228	-		Hepatocellular(1079;0.137)	341					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1022A>G	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802321	0.90538	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.39	4.39	0.52855	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.94101	3.495	0.80722	D	1	P;D;P	0.53885	0.903;0.963;0.921	P;D;P	0.67103	0.699;0.949;0.851	T	0.59172	-0.7504	10	0.72032	D	0.01	-49.3114	13.0686	0.59048	0.0:0.0:0.0:1.0	.	341;341;250	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	R	250;341;341;341;172	ENSP00000349398:H250R;ENSP00000344055:H341R;ENSP00000347416:H341R;ENSP00000342321:H172R	ENSP00000341579:H341R	H	-	2	0	AP3D1	2072812	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.813000	0.86123	1.759000	0.51996	0.379000	0.24179	CAC		0.637	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			147	682	0	0	0	1	0	147	682				
FAT2	2196	broad.mit.edu	37	5	150945633	150945633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150945633G>A	ENST00000261800.5	-	1	2872	c.2860C>T	c.(2860-2862)Ctg>Ttg	p.L954L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	954	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGGCCCAGGTCAGGATCA	0.587																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(2860-2862)Ctg>Ttg		FAT atypical cadherin 2							51.0	53.0	52.0					5																	150945633		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945633G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2860C>T	5.37:g.150945633G>A							p.L954L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2872	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	954			Cadherin 8.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.2860C>T	CCDS4317.1																																																																																				0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		30	202	0	0	0	1	0	30	202				
BMP5	653	broad.mit.edu	37	6	55623887	55623887	+	Silent	SNP	G	G	A	rs184900087	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55623887G>A	ENST00000370830.3	-	6	1829	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	377					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAAATGCAGCGTATCCTTCTG	0.343													G|||	11	0.00219649	0.0	0.0144	5008	,	,		10671	0.0		0.001	False		,,,				2504	0.0					ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1129-1131)taC>taT		bone morphogenetic protein 5							151.0	138.0	143.0					6																	55623887		2203	4300	6503	SO:0001819	synonymous_variant	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55623887G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1131C>T	6.37:g.55623887G>A						BMP5_ENST00000446683.2_Intron	p.Y377Y	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		6	1829	-	Lung NSC(77;0.0462)		377					B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	c.1131C>T	CCDS4958.1																																																																																				0.343	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			82	353	0	0	0	1	0	82	353				
DUS2	54920	broad.mit.edu	37	16	68107975	68107975	+	Nonsense_Mutation	SNP	C	C	A	rs536595606		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68107975C>A	ENST00000565263.1	+	13	1343	c.849C>A	c.(847-849)taC>taA	p.Y283*	DUS2_ENST00000432752.1_Nonsense_Mutation_p.Y248*|DUS2_ENST00000358896.6_Nonsense_Mutation_p.Y283*	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	283					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										ACACCAAGTACTGCTTGTGCC	0.537																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(847-849)taC>taA									129.0	103.0	112.0					16																	68107975		2198	4300	6498	SO:0001587	stop_gained	0				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68107975C>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.849C>A	16.37:g.68107975C>A	ENSP00000455229:p.Tyr283*					DUS2L_ENST00000358896.6_Nonsense_Mutation_p.Y283*|DUS2L_ENST00000432752.1_Nonsense_Mutation_p.Y248*	p.Y283*	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	13	1343	+		Ovarian(137;0.192)	283					A8K3G3|Q4H4D9	Nonsense_Mutation	SNP	ENST00000565263.1	37	c.849C>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370681	0.95900	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	.	.	.	5.65	2.63	0.31362	.	0.067093	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0451	11.0623	0.47955	0.0:0.7935:0.0:0.2065	.	.	.	.	X	283;248	.	ENSP00000351769:Y283X	Y	+	3	2	DUS2L	66665476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.686000	0.46968	0.757000	0.33036	-0.136000	0.14681	TAC		0.537	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		7	293	1	0	0.248553	1	0.24873	7	293				
ACACB	32	broad.mit.edu	37	12	109629664	109629664	+	Missense_Mutation	SNP	G	G	A	rs542111056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109629664G>A	ENST00000338432.7	+	15	2427	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	ACACB_ENST00000377854.5_Missense_Mutation_p.D770N|ACACB_ENST00000377848.3_Missense_Mutation_p.D770N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	770					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGAGAAACCGGATATCATGCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20933	0.0		0.001	False		,,,				2504	0.0					ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2308-2310)Gat>Aat		acetyl-CoA carboxylase beta	Biotin(DB00121)						114.0	100.0	104.0					12																	109629664		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109629664G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2308G>A	12.37:g.109629664G>A	ENSP00000341044:p.Asp770Asn					ACACB_ENST00000377848.3_Missense_Mutation_p.D770N|ACACB_ENST00000377854.5_Missense_Mutation_p.D770N	p.D770N			O00763	ACACB_HUMAN			15	2427	+			770					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2308G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267133	0.80469	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96232	-3.95;-3.95;-3.91	5.41	5.41	0.78517	.	0.099394	0.64402	D	0.000003	D	0.95778	0.8626	M	0.71920	2.185	0.80722	D	1	B	0.22851	0.076	B	0.26614	0.071	D	0.93811	0.7110	10	0.56958	D	0.05	.	18.244	0.89978	0.0:0.0:1.0:0.0	.	770	O00763	ACACB_HUMAN	N	770	ENSP00000341044:D770N;ENSP00000367079:D770N;ENSP00000367085:D770N	ENSP00000341044:D770N	D	+	1	0	ACACB	108114047	1.000000	0.71417	0.793000	0.32043	0.955000	0.61496	6.823000	0.75282	2.549000	0.85964	0.650000	0.86243	GAT		0.557	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		50	229	0	0	0	1	0	50	229				
SVIL	6840	broad.mit.edu	37	10	29762878	29762878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29762878G>A	ENST00000355867.4	-	30	6170	c.5418C>T	c.(5416-5418)gcC>gcT	p.A1806A	PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000375400.3_Silent_p.A1380A|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.A1806A|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1806					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTCTTTGCCGGCTGCCCTCA	0.597																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5416-5418)gcC>gcT		supervillin							67.0	49.0	55.0					10																	29762878		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29762878G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5418C>T	10.37:g.29762878G>A						SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000355867.4_Silent_p.A1806A|SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000375400.3_Silent_p.A1380A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.A1806A			O95425	SVIL_HUMAN			32	5867	-		Breast(68;0.103)	1806					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.5418C>T	CCDS7164.1																																																																																				0.597	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			26	140	0	0	0	1	0	26	140				
SGK1	6446	broad.mit.edu	37	6	134495755	134495755	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134495755G>A	ENST00000237305.7	-	2	165				SGK1_ENST00000367857.5_Missense_Mutation_p.R6C|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000413996.3_Intron|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000475719.2_Intron	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.R6S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ATAAAGAAACGTTTAGACGGC	0.463											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367857.5																			1	Substitution - Missense(1)	p.R6S(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(16-18)Cgt>Tgt		serum/glucocorticoid regulated kinase 1							68.0	68.0	68.0					6																	134495755		2203	4300	6503	SO:0001627	intron_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495755G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.77-31C>T	6.37:g.134495755G>A			OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1611	SGK1_ENST00000475719.2_Intron|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000237305.7_Intron|SGK1_ENST00000413996.3_Intron|SGK1_ENST00000528577.1_Intron	p.R6C			O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	1	248	-	Colorectal(23;0.221)		0			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.16C>T	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738657	0.69304	.	.	ENSG00000118515	ENST00000367857	T	0.32023	1.47	4.99	0.593	0.17478	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.09310	N	0.999995	D	0.61697	0.99	P	0.59171	0.853	T	0.04427	-1.0952	7	.	.	.	.	5.8485	0.18679	0.329:0.0:0.5363:0.1347	.	6	O00141-4	.	C	6	ENSP00000356831:R6C	.	R	-	1	0	SGK1	134537448	0.099000	0.21834	0.000000	0.03702	0.080000	0.17528	0.394000	0.20834	0.212000	0.20703	-0.345000	0.07892	CGT		0.463	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			51	184	0	0	0	1	0	51	184				
GRID1	2894	broad.mit.edu	37	10	87373312	87373312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87373312C>T	ENST00000327946.7	-	15	2538	c.2453G>A	c.(2452-2454)aGc>aAc	p.S818N	GRID1_ENST00000552278.2_5'Flank|GRID1_ENST00000536331.1_Missense_Mutation_p.S389N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	818					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGCCTGGGCGCTGGCATGGCT	0.647										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2452-2454)aGc>aAc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						66.0	73.0	70.0					10																	87373312		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373312C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2453G>A	10.37:g.87373312C>T	ENSP00000330148:p.Ser818Asn	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.S389N	p.S818N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			15	2538	-			818					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2453G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344150	0.24339	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.15017	2.64;2.46	5.74	4.84	0.62591	Ionotropic glutamate receptor (1);	0.732309	0.14818	N	0.296678	T	0.08403	0.0209	N	0.10645	0.015	0.21675	N	0.999598	B	0.02656	0.0	B	0.04013	0.001	T	0.32640	-0.9899	10	0.22706	T	0.39	.	7.7553	0.28921	0.0:0.7523:0.0:0.2477	.	818	Q9ULK0	GRID1_HUMAN	N	818;389	ENSP00000330148:S818N;ENSP00000444455:S389N	ENSP00000330148:S818N	S	-	2	0	GRID1	87363292	0.002000	0.14202	0.856000	0.33681	0.776000	0.43924	0.701000	0.25616	1.433000	0.47394	0.650000	0.86243	AGC		0.647	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		98	419	0	0	0	1	0	98	419				
PPP2R3A	5523	broad.mit.edu	37	3	135822208	135822208	+	Missense_Mutation	SNP	C	C	T	rs200412700		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135822208C>T	ENST00000264977.3	+	12	3829	c.3212C>T	c.(3211-3213)gCg>gTg	p.A1071V	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000469270.1_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1071					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCCCTTTGCGGTCCAGAAG	0.413																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3211-3213)gCg>gTg		protein phosphatase 2, regulatory subunit B'', alpha							81.0	79.0	79.0					3																	135822208		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135822208C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3212C>T	3.37:g.135822208C>T	ENSP00000264977:p.Ala1071Val					PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V	p.A1071V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			12	3829	+			1071					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.3212C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928315	0.92389	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.25414	3.19;1.8;2.11	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.62382	0.796;0.901	T	0.18524	-1.0334	10	0.51188	T	0.08	.	18.4735	0.90783	0.0:1.0:0.0:0.0	.	450;1071	Q06190-2;Q06190	.;P2R3A_HUMAN	V	1071;335;450	ENSP00000264977:A1071V;ENSP00000419344:A335V;ENSP00000334748:A450V	ENSP00000264977:A1071V	A	+	2	0	PPP2R3A	137304898	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.776000	0.85560	2.677000	0.91161	0.561000	0.74099	GCG		0.413	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		63	236	0	0	0	1	0	63	236				
MAGEA12	4111	broad.mit.edu	37	X	151896655	151896655	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151896655C>T	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGTCTACTCCAGTCCACCT	0.527																																						ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896655C>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896655C>T								NR_073432.1						0	285	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.527	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		114	399	0	0	0	1	0	114	399				
COMMD6	170622	broad.mit.edu	37	13	76104365	76104365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76104365C>T	ENST00000377615.3	-	4	256	c.92G>A	c.(91-93)aGc>aAc	p.S31N	COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N|COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N|COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N|COMMD6_ENST00000460675.1_5'UTR			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	31	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGTGTCTGAGCTCACAGCCAT	0.383																																						ENST00000377615.3																			0				breast(1)|lung(1)|urinary_tract(1)	3						c.(91-93)aGc>aAc		COMM domain containing 6							95.0	88.0	90.0					13																	76104365		2203	4300	6503	SO:0001583	missense	170622					cytoplasm|nucleus	protein binding	g.chr13:76104365C>T	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.92G>A	13.37:g.76104365C>T	ENSP00000366841:p.Ser31Asn					COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N|COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N	p.S31N			Q7Z4G1	COMD6_HUMAN		GBM - Glioblastoma multiforme(99;0.0104)	4	256	-		Breast(118;0.0979)|Prostate(6;0.122)	31			COMM.		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	c.92G>A	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545648	0.86022	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.09	5.09	0.68999	COMM domain (1);	0.040721	0.85682	D	0.000000	T	0.38852	0.1056	.	.	.	0.58432	D	0.999999	D;D	0.64830	0.994;0.993	D;D	0.66716	0.946;0.91	T	0.22068	-1.0227	9	0.72032	D	0.01	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	31;31	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	N	31;31;46;31	ENSP00000385660:S31N;ENSP00000366841:S31N;ENSP00000366845:S46N;ENSP00000348054:S31N	ENSP00000348054:S31N	S	-	2	0	COMMD6	75002366	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.591000	0.67536	2.525000	0.85131	0.655000	0.94253	AGC		0.383	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		18	391	0	0	0	1	0	18	391				
AP3B2	8120	broad.mit.edu	37	15	83346884	83346884	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83346884G>A	ENST00000261722.3	-	11	1425	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	AP3B2_ENST00000535348.1_Silent_p.N374N|AP3B2_ENST00000535359.1_Silent_p.N406N|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	406					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGTAGGAATGTTGGTCTCAT	0.572																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1216-1218)aaC>aaT		adaptor-related protein complex 3, beta 2 subunit							51.0	49.0	50.0					15																	83346884		1943	4146	6089	SO:0001819	synonymous_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83346884G>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1218C>T	15.37:g.83346884G>A						AP3B2_ENST00000535348.1_Silent_p.N374N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.N406N	p.N406N	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		11	1425	-			406					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	c.1218C>T	CCDS45331.1																																																																																				0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			26	100	0	0	0	1	0	26	100				
LCA5	167691	broad.mit.edu	37	6	80198831	80198831	+	Missense_Mutation	SNP	C	C	T	rs141821682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80198831C>T	ENST00000392959.1	-	8	1812	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I	LCA5_ENST00000467898.3_Missense_Mutation_p.V401I|LCA5_ENST00000369846.4_Missense_Mutation_p.V401I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	401					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCCTGTTTTACGACATGGAGT	0.403																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1201-1203)Gta>Ata		Leber congenital amaurosis 5		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167.0	160.0	162.0		1201,1201	0.6	0.0	6	dbSNP_134	162	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LCA5	NM_001122769.2,NM_181714.3	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	401/698,401/698	80198831	3,13003	2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80198831C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1201G>A	6.37:g.80198831C>T	ENSP00000376686:p.Val401Ile					LCA5_ENST00000467898.2_Missense_Mutation_p.V401I|LCA5_ENST00000369846.4_Missense_Mutation_p.V401I	p.V401I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	8	1812	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	401					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1201G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634144	0.14322	2.27E-4	2.33E-4	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.30714	1.52;1.52	5.29	0.64	0.17752	.	1.834740	0.02223	N	0.064199	T	0.10121	0.0248	L	0.46157	1.445	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.14062	-1.0486	10	0.33940	T	0.23	-1.0538	4.2696	0.10780	0.2156:0.3739:0.0:0.4106	.	401	Q86VQ0	LCA5_HUMAN	I	401	ENSP00000358861:V401I;ENSP00000376686:V401I	ENSP00000358861:V401I	V	-	1	0	LCA5	80255550	0.000000	0.05858	0.009000	0.14445	0.018000	0.09664	-0.074000	0.11450	0.115000	0.18071	-0.123000	0.14984	GTA		0.403	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		77	481	0	0	0	1	0	77	481				
ING1	3621	broad.mit.edu	37	13	111368056	111368056	+	Missense_Mutation	SNP	C	C	A	rs370758745		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111368056C>A	ENST00000375774.3	+	1	728	c.266C>A	c.(265-267)cCt>cAt	p.P89H	ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	89					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCTCCTGGCCTCCGCCCTCC	0.697																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(265-267)cCt>cAt		inhibitor of growth family, member 1							48.0	44.0	45.0					13																	111368056		2193	4285	6478	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111368056C>A		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.266C>A	13.37:g.111368056C>A	ENSP00000364929:p.Pro89His					ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron	p.P89H	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	728	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		89					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.266C>A	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363542	0.41902	.	.	ENSG00000153487	ENST00000375774	T	0.32272	1.46	4.02	3.15	0.36227	.	.	.	.	.	T	0.24967	0.0606	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.49561	0.615	T	0.07385	-1.0775	9	0.87932	D	0	-7.4134	9.6479	0.39879	0.0:0.7866:0.2134:0.0	.	89	Q9UK53	ING1_HUMAN	H	89	ENSP00000364929:P89H	ENSP00000364929:P89H	P	+	2	0	ING1	110166057	0.005000	0.15991	0.744000	0.31058	0.493000	0.33554	0.680000	0.25306	1.003000	0.39130	0.561000	0.74099	CCT		0.697	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		15	57	1	0	2.61681e-11	1	2.78987e-11	15	57				
SYNGAP1	8831	broad.mit.edu	37	6	33399973	33399973	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33399973C>A	ENST00000418600.2	+	4	432	c.331C>A	c.(331-333)Cca>Aca	p.P111T	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	111					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAAGAGTGTCCCAGGGGGGAA	0.637																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(331-333)Cca>Aca		synaptic Ras GTPase activating protein 1							53.0	50.0	51.0					6																	33399973		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33399973C>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.331C>A	6.37:g.33399973C>A	ENSP00000403636:p.Pro111Thr					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T	p.P111T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			4	432	+			111					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.331C>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022972	0.35701	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17528	2.27;2.36;2.36	4.49	2.68	0.31781	Pleckstrin homology domain (1);	1.042200	0.07610	N	0.925251	T	0.06325	0.0163	L	0.52573	1.65	0.30470	N	0.773439	B;P;B	0.36535	0.421;0.557;0.016	B;B;B	0.29785	0.05;0.107;0.017	T	0.30238	-0.9985	10	0.87932	D	0	.	8.0326	0.30474	0.0:0.7472:0.1608:0.092	.	111;111;111	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	T	111;111;111;52	ENSP00000293748:P111T;ENSP00000403636:P111T;ENSP00000412475:P52T	ENSP00000293748:P111T	P	+	1	0	SYNGAP1	33507951	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.648000	0.54410	0.440000	0.26502	0.467000	0.42956	CCA		0.637	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		30	201	1	0	6.05902e-23	1	6.8732e-23	30	201				
HAO1	54363	broad.mit.edu	37	20	7886939	7886939	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7886939G>A	ENST00000378789.3	-	4	634	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	195	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTTCCTCAGGAGAAAATGAT	0.348																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(583-585)Cct>Tct		hydroxyacid oxidase (glycolate oxidase) 1							79.0	80.0	80.0					20																	7886939		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886939G>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.583C>T	20.37:g.7886939G>A	ENSP00000368066:p.Pro195Ser						p.P195S	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			4	634	-			195			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.583C>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	0.862	-0.734970	0.03111	.	.	ENSG00000101323	ENST00000378789	T	0.32988	1.43	5.54	3.37	0.38596	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.247105	0.42172	N	0.000751	T	0.13114	0.0318	N	0.17564	0.495	0.39356	D	0.965848	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10543	-1.0625	10	0.08599	T	0.76	21.5237	3.2671	0.06869	0.3628:0.2371:0.4001:0.0	.	195;195	A8K058;Q9UJM8	.;HAOX1_HUMAN	S	195	ENSP00000368066:P195S	ENSP00000368066:P195S	P	-	1	0	HAO1	7834939	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	2.344000	0.44010	1.321000	0.45227	0.591000	0.81541	CCT		0.348	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			53	249	0	0	0	1	0	53	249				
NCOR1	9611	broad.mit.edu	37	17	15989754	15989754	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989754G>T	ENST00000268712.3	-	23	3276	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1007	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGGCTGAAGGACTTTTAAA	0.428																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3019-3021)Ctt>Att		nuclear receptor corepressor 1							62.0	63.0	63.0					17																	15989754		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15989754G>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3019C>A	17.37:g.15989754G>T	ENSP00000268712:p.Leu1007Ile					NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	p.L1007I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3276	-			1007			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.3019C>A	CCDS11175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.162501|3.162501	0.57368|0.57368	.|.	.|.	ENSG00000141027|ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849|ENST00000436068	D;D|.	0.85171|.	-1.95;-1.95|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55940|0.55940	0.1952|0.1952	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.629;0.745|.	D;B;P|.	0.72625|.	0.978;0.212;0.504|.	T|T	0.48559|0.48559	-0.9025|-0.9025	10|5	0.11485|.	T|.	0.65|.	-7.6952|-7.6952	17.5022|17.5022	0.87735|0.87735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	914;1007;1023|.	Q7Z516;O75376;O75376-2|.	.;NCOR1_HUMAN;.|.	I|H	1007;1023;914|78	ENSP00000268712:L1007I;ENSP00000379192:L1023I|.	ENSP00000268712:L1007I|.	L|P	-|-	1|2	0|0	NCOR1|NCOR1	15930479|15930479	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.833000|0.833000	0.47200|0.47200	5.911000|5.911000	0.69939|0.69939	2.816000|2.816000	0.96949|0.96949	0.644000|0.644000	0.83932|0.83932	CTT|CCT		0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		51	173	1	0	6.08268e-21	1	6.83416e-21	51	173				
DSG1	1828	broad.mit.edu	37	18	28935055	28935055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28935055G>T	ENST00000257192.4	+	15	3108	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G325C|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	966					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAATTAGTGGCACCACTGG	0.567																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2896-2898)Ggc>Tgc		desmoglein 1							161.0	154.0	156.0					18																	28935055		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28935055G>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2896G>T	18.37:g.28935055G>T	ENSP00000257192:p.Gly966Cys					DSG1_ENST00000462981.2_Missense_Mutation_p.G325C|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	p.G966C	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3108	+			966					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2896G>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	1.269	-0.613598	0.03690	.	.	ENSG00000134760	ENST00000257192	T	0.60299	0.2	6.11	4.32	0.51571	.	0.000000	0.53938	D	0.000054	T	0.51210	0.1661	N	0.08118	0	0.25503	N	0.987539	D	0.76494	0.999	D	0.62955	0.909	T	0.43343	-0.9397	10	0.62326	D	0.03	.	8.8549	0.35223	0.2249:0.0:0.7751:0.0	.	966	Q02413	DSG1_HUMAN	C	966	ENSP00000257192:G966C	ENSP00000257192:G966C	G	+	1	0	DSG1	27189053	0.984000	0.35163	0.114000	0.21550	0.003000	0.03518	1.520000	0.35899	1.600000	0.50102	0.655000	0.94253	GGC		0.567	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		157	701	1	0	4.8073e-73	1	6.11803e-73	157	701				
CCDC62	84660	broad.mit.edu	37	12	123265728	123265728	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123265728A>G	ENST00000253079.6	+	3	591	c.247A>G	c.(247-249)Act>Gct	p.T83A	CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A|CCDC62_ENST00000392440.2_5'Flank|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	83					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACATAAAAGAACTGAAATAAT	0.373																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(247-249)Act>Gct		coiled-coil domain containing 62							88.0	82.0	84.0					12																	123265728		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123265728A>G		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.247A>G	12.37:g.123265728A>G	ENSP00000253079:p.Thr83Ala					CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A|CCDC62_ENST00000537566.1_5'UTR	p.T83A	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	3	591	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		83					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.247A>G	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236661	0.58886	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.30714	1.52;1.52	5.5	4.33	0.51752	.	0.307141	0.28499	N	0.015125	T	0.21801	0.0525	L	0.41236	1.265	0.80722	D	1	B;P	0.37207	0.4;0.587	B;B	0.36464	0.173;0.225	T	0.02603	-1.1135	10	0.09084	T	0.74	-10.1062	9.9655	0.41721	0.8481:0.0:0.0:0.1519	.	83;83	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	A	83	ENSP00000253079:T83A;ENSP00000376236:T83A	ENSP00000253079:T83A	T	+	1	0	CCDC62	121831681	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	4.664000	0.61540	0.891000	0.36235	0.528000	0.53228	ACT		0.373	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		59	262	0	0	0	1	0	59	262				
DROSHA	29102	broad.mit.edu	37	5	31486629	31486629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31486629G>A	ENST00000511367.2	-	13	2127	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	DROSHA_ENST00000344624.3_Missense_Mutation_p.T628M|DROSHA_ENST00000442743.1_Missense_Mutation_p.T591M|DROSHA_ENST00000513349.1_Missense_Mutation_p.T591M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	628	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAAATGAATCGTGTAGTCTAT	0.378																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1882-1884)aCg>aTg		drosha, ribonuclease type III							130.0	133.0	132.0					5																	31486629		1942	4152	6094	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31486629G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1883C>T	5.37:g.31486629G>A	ENSP00000425979:p.Thr628Met					DROSHA_ENST00000344624.3_Missense_Mutation_p.T628M|DROSHA_ENST00000442743.1_Missense_Mutation_p.T591M|DROSHA_ENST00000513349.1_Missense_Mutation_p.T591M	p.T628M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			13	2127	-			628			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1883C>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261408	0.80358	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.64595	0.927;0.893	T	0.56823	-0.7915	10	0.87932	D	0	-15.8364	19.8331	0.96643	0.0:0.0:1.0:0.0	.	591;628	E7EMP9;Q9NRR4	.;RNC_HUMAN	M	628;628;591;591;553;584	ENSP00000425979:T628M;ENSP00000339845:T628M;ENSP00000409335:T591M;ENSP00000424161:T591M	ENSP00000265075:T553M	T	-	2	0	DROSHA	31522386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.307000	0.89964	2.779000	0.95612	0.650000	0.86243	ACG		0.378	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		52	231	0	0	0	1	0	52	231				
FAM135A	57579	broad.mit.edu	37	6	71243497	71243497	+	Missense_Mutation	SNP	G	G	A	rs532369145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71243497G>A	ENST00000418814.2	+	18	4519	c.3905G>A	c.(3904-3906)cGt>cAt	p.R1302H	FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H|FAM135A_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1302								p.R1089H(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGACTGATCGTCTTTTGGAT	0.254													G|||	1	0.000199681	0.0	0.0	5008	,	,		16373	0.001		0.0	False		,,,				2504	0.0					ENST00000418814.2																			1	Substitution - Missense(1)	p.R1089H(1)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3904-3906)cGt>cAt		family with sequence similarity 135, member A							99.0	98.0	98.0					6																	71243497		2197	4283	6480	SO:0001583	missense	57579							g.chr6:71243497G>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3905G>A	6.37:g.71243497G>A	ENSP00000410768:p.Arg1302His					FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H	p.R1302H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			18	4519	+			1302					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.3905G>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019663	0.93462	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.15	5.15	0.70609	Domain of unknown function DUF676, lipase-like (1);	0.106313	0.64402	D	0.000004	T	0.77890	0.4198	M	0.88704	2.975	0.80722	D	1	P;D;D;D;D	0.89917	0.902;1.0;1.0;0.998;1.0	P;D;D;P;D	0.97110	0.701;0.999;1.0;0.862;0.984	T	0.81586	-0.0865	10	0.62326	D	0.03	.	18.9956	0.92812	0.0:0.0:1.0:0.0	.	882;1302;1302;1106;1089	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	H	1302;1089;882;1089;1106;1302	ENSP00000410768:R1302H;ENSP00000359510:R1089H;ENSP00000423785:R882H;ENSP00000409201:R1089H;ENSP00000354913:R1106H;ENSP00000423307:R1302H	ENSP00000354913:R1106H	R	+	2	0	FAM135A	71300218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.911000	0.87458	2.553000	0.86117	0.557000	0.71058	CGT		0.254	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		15	82	0	0	0	1	0	15	82				
CELF2	10659	broad.mit.edu	37	10	11312657	11312657	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11312657T>C	ENST00000379261.4	+	7	718	c.626T>C	c.(625-627)tTt>tCt	p.F209S	CELF2_ENST00000315874.4_Missense_Mutation_p.F185S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000608830.1_Missense_Mutation_p.F185S|CELF2_ENST00000537122.1_Missense_Mutation_p.F98S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S|CELF2_ENST00000609692.1_Missense_Mutation_p.F185S	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	209	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GTGGTGAAGTTTGCTGACACT	0.582											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(625-627)tTt>tCt		CUGBP, Elav-like family member 2							46.0	50.0	48.0					10																	11312657		2065	4225	6290	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11312657T>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.626T>C	10.37:g.11312657T>C	ENSP00000368563:p.Phe209Ser		OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671	CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000315874.3_Missense_Mutation_p.F185S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000537122.1_Missense_Mutation_p.F98S	p.F209S	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			7	718	+			209			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.626T>C	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222595	0.79464	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D	0.76494	0.992;0.992;0.99;0.999;0.997;0.992	P;P;P;D;D;P	0.80764	0.729;0.799;0.66;0.994;0.945;0.799	T	0.06463	-1.0825	10	0.87932	D	0	-11.1953	15.9599	0.79923	0.0:0.0:0.0:1.0	.	193;209;204;216;204;209	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	S	209;209;216;216;185;185;185;185;185;185;98;15	ENSP00000368563:F209S;ENSP00000406451:F209S;ENSP00000389951:F216S;ENSP00000443926:F216S;ENSP00000382743:F185S;ENSP00000404834:F185S;ENSP00000315328:F185S;ENSP00000346426:F185S;ENSP00000388530:F185S;ENSP00000438884:F98S	ENSP00000315328:F185S	F	+	2	0	CELF2	11352663	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.988000	0.88194	2.153000	0.67306	0.533000	0.62120	TTT		0.582	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				55	231	0	0	0	1	0	55	231				
SBNO2	22904	broad.mit.edu	37	19	1112516	1112516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112516C>A	ENST00000361757.3	-	21	2637	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D	SBNO2_ENST00000587024.1_Missense_Mutation_p.E790D|SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	800					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAGGCCTCCGAGATGA	0.701																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2398-2400)gaG>gaT		strawberry notch homolog 2 (Drosophila)							13.0	18.0	17.0					19																	1112516		2013	4158	6171	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1112516C>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2400G>T	19.37:g.1112516C>A	ENSP00000354733:p.Glu800Asp					SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D|SBNO2_ENST00000587024.1_Missense_Mutation_p.E790D	p.E800D	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	2637	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	800					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2400G>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203957	0.95033	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.73152	-0.72;-0.72	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	N	0.17345	0.48	0.45995	D	0.998807	P;P	0.44429	0.835;0.802	P;P	0.49637	0.617;0.482	T	0.67011	-0.5778	10	0.36615	T	0.2	-35.3467	17.03	0.86458	0.0:1.0:0.0:0.0	.	800;743	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	D	800;743;807	ENSP00000354733:E800D;ENSP00000400762:E743D	ENSP00000250872:E807D	E	-	3	2	SBNO2	1063516	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.577000	0.23758	2.265000	0.75225	0.448000	0.29417	GAG		0.701	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		14	82	1	0	2.31682e-05	1	2.36778e-05	14	82				
MAGEC1	9947	broad.mit.edu	37	X	140994977	140994977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994977C>T	ENST00000285879.4	+	4	2073	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	596										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CACTACTTTCCTCAGAGCCCT	0.577										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1786-1788)cCt>cTt		melanoma antigen family C, 1							223.0	238.0	233.0					X																	140994977		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994977C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1787C>T	X.37:g.140994977C>T	ENSP00000285879:p.Pro596Leu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P596L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2073	+	Acute lymphoblastic leukemia(192;6.56e-05)		596					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1787C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187076	0.38609	.	.	ENSG00000155495	ENST00000285879	T	0.15139	2.45	0.96	0.96	0.19631	.	.	.	.	.	T	0.17874	0.0429	N	0.08118	0	0.58432	D	0.999999	D	0.64830	0.994	D	0.73708	0.981	T	0.09552	-1.0669	9	0.87932	D	0	.	7.647	0.28325	0.0:0.9999:0.0:1.0E-4	.	596	O60732	MAGC1_HUMAN	L	596	ENSP00000285879:P596L	ENSP00000285879:P596L	P	+	2	0	MAGEC1	140822643	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.017000	0.12590	0.187000	0.20147	0.190000	0.17370	CCT		0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		439	1579	0	0	0	1	0	439	1579				
SCFD2	152579	broad.mit.edu	37	4	53786923	53786923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53786923G>A	ENST00000401642.3	-	6	1809	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	559					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AACATATACAGACTTAAACTG	0.378																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1675-1677)tCt>tTt		sec1 family domain containing 2							95.0	98.0	97.0					4																	53786923		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53786923G>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1676C>T	4.37:g.53786923G>A	ENSP00000384182:p.Ser559Phe					SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	p.S559F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		6	1809	-			559					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1676C>T	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553179	0.65425	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78816	-1.11;-1.21	4.81	4.81	0.61882	.	0.053112	0.85682	D	0.000000	D	0.85137	0.5628	M	0.61703	1.905	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	D	0.83956	0.0319	10	0.40728	T	0.16	.	13.5539	0.61749	0.0:0.0:1.0:0.0	.	559;559	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	F	559	ENSP00000384182:S559F;ENSP00000373592:S559F	ENSP00000373592:S559F	S	-	2	0	SCFD2	53481680	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.436000	0.66538	2.659000	0.90383	0.561000	0.74099	TCT		0.378	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		59	283	0	0	0	1	0	59	283				
TGFBR2	7048	broad.mit.edu	37	3	30713754	30713754	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30713754A>C	ENST00000295754.5	+	4	1461	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGGATTGCTCACCTCCACAGT	0.602																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM075033	TGFBR2	M		c.(1078-1080)cAc>cCc		transforming growth factor, beta receptor II (70/80kDa)							170.0	153.0	159.0					3																	30713754		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713754A>C		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1079A>C	3.37:g.30713754A>C	ENSP00000295754:p.His360Pro					TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	p.H360P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	1461	+			360			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1079A>C	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048007	0.75846	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67865	-0.29;-0.29	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87437	0.2392	10	0.87932	D	0	.	14.4331	0.67264	1.0:0.0:0.0:0.0	.	360;385	P37173;D2JYI1	TGFR2_HUMAN;.	P	360;385;190	ENSP00000295754:H360P;ENSP00000351905:H385P	ENSP00000295754:H360P	H	+	2	0	TGFBR2	30688758	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	9.335000	0.96500	1.809000	0.52856	0.528000	0.53228	CAC		0.602	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			163	799	0	0	0	1	0	163	799				
CCNO	10309	broad.mit.edu	37	5	54527267	54527267	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527267G>A	ENST00000282572.4	-	3	1145	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	330					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GTGAGTCAAGGAAGTACTGTT	0.592																																						ENST00000282572.4																			0				endometrium(1)|lung(3)|skin(1)	5						c.(988-990)tCc>tTc		cyclin O							72.0	73.0	73.0					5																	54527267		2203	4300	6503	SO:0001583	missense	10309				cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	g.chr5:54527267G>A	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.989C>T	5.37:g.54527267G>A	ENSP00000282572:p.Ser330Phe						p.S330F	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		3	1145	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	330					A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	c.989C>T	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321669	0.41096	.	.	ENSG00000152669	ENST00000282572	T	0.19394	2.15	5.7	5.7	0.88788	.	0.363150	0.27673	N	0.018331	T	0.31513	0.0799	L	0.35414	1.06	0.23984	N	0.996264	D	0.60575	0.988	P	0.59288	0.855	T	0.22941	-1.0202	10	0.15499	T	0.54	.	19.4402	0.94817	0.0:0.0:1.0:0.0	.	330	P22674	CCNO_HUMAN	F	330	ENSP00000282572:S330F	ENSP00000282572:S330F	S	-	2	0	CCNO	54563024	0.989000	0.36119	0.683000	0.30040	0.765000	0.43378	4.199000	0.58426	2.696000	0.92011	0.561000	0.74099	TCC		0.592	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		56	312	0	0	0	1	0	56	312				
DAGLA	747	broad.mit.edu	37	11	61503244	61503244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61503244C>T	ENST00000257215.5	+	12	1362	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	416					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGATGCTGAGCGCCTCCCCGT	0.667																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1246-1248)Cgc>Tgc		diacylglycerol lipase, alpha							47.0	42.0	44.0					11																	61503244		2201	4299	6500	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61503244C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1246C>T	11.37:g.61503244C>T	ENSP00000257215:p.Arg416Cys						p.R416C	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	12	1362	+			416					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1246C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662092	0.88251	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.54805	T	0.06	-27.7272	16.3615	0.83270	0.0:1.0:0.0:0.0	.	416	Q9Y4D2	DGLA_HUMAN	C	416	ENSP00000257215:R416C	ENSP00000257215:R416C	R	+	1	0	DAGLA	61259820	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.453000	0.66645	2.157000	0.67596	0.462000	0.41574	CGC		0.667	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	120	0	0	0	1	0	5	120				
ADRA2A	150	broad.mit.edu	37	10	112839042	112839042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112839042G>A	ENST00000280155.2	+	1	2253	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	415					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCTGGTTCGGCTACTGCAA	0.572																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			0				breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1288-1290)Ggc>Agc		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						144.0	128.0	134.0					10																	112839042		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112839042G>A	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1288G>A	10.37:g.112839042G>A	ENSP00000280155:p.Gly430Ser						p.G430S	NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2253	+		Breast(234;0.0735)|Lung NSC(174;0.238)	415					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.1288G>A	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756472	0.89843	.	.	ENSG00000150594	ENST00000280155	T	0.36157	1.27	3.82	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.60676	0.2287	M	0.90814	3.15	0.58432	D	0.999999	D	0.61697	0.99	P	0.55615	0.78	T	0.73943	-0.3823	10	0.87932	D	0	.	15.8745	0.79151	0.0:0.0:1.0:0.0	.	415	P08913	ADA2A_HUMAN	S	430	ENSP00000280155:G430S	ENSP00000280155:G430S	G	+	1	0	ADRA2A	112829032	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.350000	0.97070	1.936000	0.56123	0.462000	0.41574	GGC		0.572	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		142	665	0	0	0	1	0	142	665				
AMH	268	broad.mit.edu	37	19	2249555	2249555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2249555C>T	ENST00000221496.4	+	1	246	c.224C>T	c.(223-225)gCt>gTt	p.A75V	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	75					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGGGGGCTCTAAGCGCC	0.701									Persistant Mullerian Duct Syndrome (type I and II)																													ENST00000221496.3																			0				lung(2)	2						c.(223-225)gCt>gTt		anti-Mullerian hormone							8.0	11.0	10.0					19																	2249555		2156	4280	6436	SO:0001583	missense	268	Persistant Mullerian Duct Syndrome (type I and II)	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity	g.chr19:2249555C>T	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"""Endogenous ligands"""	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.224C>T	19.37:g.2249555C>T	ENSP00000221496:p.Ala75Val						p.A75V	NM_000479.3	NP_000470.2	P03971	MIS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	890	+		Hepatocellular(1079;0.137)	75					O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	37	c.224C>T	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307984	0.01342	.	.	ENSG00000104899	ENST00000221496	D	0.83419	-1.72	3.75	-1.67	0.08238	.	1.190810	0.06312	N	0.702866	T	0.66076	0.2753	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	10	0.34782	T	0.22	-1.1031	6.9978	0.24793	0.0:0.5399:0.2022:0.2578	.	75	P03971	MIS_HUMAN	V	75	ENSP00000221496:A75V	ENSP00000221496:A75V	A	+	2	0	AMH	2200555	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	-1.091000	0.03065	-1.598000	0.00824	GCT		0.701	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		13	51	0	0	0	1	0	13	51				
ATG9A	79065	broad.mit.edu	37	2	220088899	220088899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220088899G>A	ENST00000409618.1	-	8	1633	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Silent_p.D398D|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000409422.1_Silent_p.D337D|ATG9A_ENST00000396761.2_Silent_p.D398D			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	398					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCTTCGTCATAAATGG	0.567																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(1192-1194)gaC>gaT		autophagy related 9A							160.0	170.0	167.0					2																	220088899		2131	4236	6367	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220088899G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1194C>T	2.37:g.220088899G>A						ATG9A_ENST00000361242.4_Silent_p.D398D|ATG9A_ENST00000396761.2_Silent_p.D398D|ATG9A_ENST00000409422.1_Silent_p.D337D	p.D398D			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1633	-		Renal(207;0.0474)	398					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.1194C>T	CCDS42820.1																																																																																				0.567	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		241	1061	0	0	0	1	0	241	1061				
SLC45A4	57210	broad.mit.edu	37	8	142228354	142228354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228354T>G	ENST00000024061.3	-	4	1539	c.1232A>C	c.(1231-1233)cAg>cCg	p.Q411P	SLC45A4_ENST00000519067.1_Missense_Mutation_p.Q411P|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGCCGCTTCTGCATGTCGTA	0.687																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1231-1233)cAg>cCg		solute carrier family 45, member 4							42.0	39.0	40.0					8																	142228354		2203	4296	6499	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228354T>G	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1232A>C	8.37:g.142228354T>G	ENSP00000024061:p.Gln411Pro					SLC45A4_ENST00000024061.3_Missense_Mutation_p.Q411P|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P	p.Q411P			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1535	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		462					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1232A>C	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173901	0.57692	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.37	5.37	0.77165	.	0.060918	0.64402	D	0.000003	D	0.89598	0.6761	L	0.49350	1.555	0.49798	D	0.999829	B;B;B	0.20368	0.044;0.015;0.034	B;B;B	0.18871	0.01;0.023;0.023	D	0.86337	0.1702	10	0.41790	T	0.15	-42.0846	15.378	0.74630	0.0:0.0:0.0:1.0	.	462;411;411	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	P	411;462;404;411	ENSP00000429059:Q411P;ENSP00000428137:Q462P;ENSP00000400799:Q404P;ENSP00000024061:Q411P	ENSP00000024061:Q411P	Q	-	2	0	SLC45A4	142297536	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.538000	0.67193	2.051000	0.60960	0.459000	0.35465	CAG		0.687	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		51	247	0	0	0	1	0	51	247				
IGFL3	388555	broad.mit.edu	37	19	46627247	46627247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46627247G>T	ENST00000341415.2	-	3	270	c.246C>A	c.(244-246)tgC>tgA	p.C82*	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	82						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTCGGGACAGCAGAGCTCAA	0.532																																						ENST00000341415.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(244-246)tgC>tgA		IGF-like family member 3							91.0	113.0	106.0					19																	46627247		2185	4300	6485	SO:0001587	stop_gained	388555					extracellular region	protein binding	g.chr19:46627247G>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.246C>A	19.37:g.46627247G>T	ENSP00000344860:p.Cys82*					AC007193.6_ENST00000597989.1_lincRNA	p.C82*	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	3	270	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	82						Nonsense_Mutation	SNP	ENST00000341415.2	37	c.246C>A	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745593	0.49151	.	.	ENSG00000188624	ENST00000341415	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.2435	6.749	0.23477	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000344860:C82X	C	-	3	2	IGFL3	51319087	0.984000	0.35163	0.825000	0.32803	0.111000	0.19643	1.977000	0.40589	1.217000	0.43442	0.411000	0.27672	TGC		0.532	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		211	816	1	0	9.14329e-105	1	1.17647e-104	211	816				
IWS1	55677	broad.mit.edu	37	2	128261063	128261063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128261063C>A	ENST00000295321.4	-	4	1568	c.1309G>T	c.(1309-1311)Gca>Tca	p.A437S	IWS1_ENST00000455721.2_Missense_Mutation_p.A444S|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	437	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGTCAGATGCTATGGTCTTC	0.428																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1309-1311)Gca>Tca		IWS1 homolog (S. cerevisiae)							164.0	146.0	152.0					2																	128261063		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128261063C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1309G>T	2.37:g.128261063C>A	ENSP00000295321:p.Ala437Ser					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.A444S	p.A437S	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	4	1568	-	Colorectal(110;0.1)		437			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1309G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910644	0.17833	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.34072	2.36;1.38	5.43	5.43	0.79202	.	0.325059	0.28225	N	0.016140	T	0.17152	0.0412	L	0.28274	0.84	0.27288	N	0.957924	P	0.46512	0.879	B	0.32677	0.15	T	0.14392	-1.0474	10	0.09084	T	0.74	-17.201	8.5868	0.33664	0.1526:0.7712:0.0:0.0762	.	437	Q96ST2	IWS1_HUMAN	S	437;390;444	ENSP00000295321:A437S;ENSP00000399245:A444S	ENSP00000295321:A437S	A	-	1	0	IWS1	127977533	0.826000	0.29277	0.932000	0.37286	0.290000	0.27261	2.013000	0.40942	2.560000	0.86352	0.655000	0.94253	GCA		0.428	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		18	599	1	0	5.3912e-06	1	5.54037e-06	18	599				
SLC25A52	147407	broad.mit.edu	37	18	29339989	29339989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29339989G>A	ENST00000579441.2	-	1	635	c.636C>T	c.(634-636)gtC>gtT	p.V212V	SLC25A52_ENST00000269205.5_Silent_p.V222V			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	212					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TAAAATCATTGACCAAATGAG	0.458																																						ENST00000269205.5																			0											c.(664-666)gtC>gtT		solute carrier family 25, member 52							87.0	84.0	85.0					18																	29339989		2203	4300	6503	SO:0001819	synonymous_variant	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29339989G>A		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.636C>T	18.37:g.29339989G>A						SLC25A52_ENST00000579441.2_Silent_p.V212V	p.V222V	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	854	-			212						Silent	SNP	ENST00000579441.2	37	c.666C>T																																																																																					0.458	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		46	437	0	0	0	1	0	46	437				
IGHV3-38	28429	broad.mit.edu	37	14	106866479	106866479	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106866479G>T	ENST00000390618.2	-	0	352									immunoglobulin heavy variable 3-38 (non-functional)																		CGTGTTCTTGGAATTGTCTCT	0.527																																						ENST00000390618.2																			0																				188.0	156.0	167.0					14																	106866479		2193	4290	6483			0							g.chr14:106866479G>T	M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866479G>T														0	352	-									RNA	SNP	ENST00000390618.2	37																																																																																						0.527	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325190.1	NG_001019		69	1301	1	0	4.21674e-32	1	4.97474e-32	69	1301				
BIRC8	112401	broad.mit.edu	37	19	53793138	53793138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53793138C>A	ENST00000426466.1	-	1	1737	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	164					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGATTCAATTCATTTTCTGTA	0.418																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(490-492)Gaa>Taa		baculoviral IAP repeat containing 8							91.0	91.0	91.0					19																	53793138		2203	4300	6503	SO:0001587	stop_gained	112401				apoptosis		zinc ion binding	g.chr19:53793138C>A	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.490G>T	19.37:g.53793138C>A	ENSP00000412957:p.Glu164*						p.E164*	NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1737	-			164					Q6IPY1|Q96RW5	Nonsense_Mutation	SNP	ENST00000426466.1	37	c.490G>T	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	43	10.294075	0.99377	.	.	ENSG00000163098	ENST00000426466	.	.	.	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-7.5152	6.9506	0.24542	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	164	.	ENSP00000412957:E164X	E	-	1	0	BIRC8	58484950	0.163000	0.22920	0.023000	0.16930	0.013000	0.08279	1.173000	0.31920	0.578000	0.29487	0.420000	0.28162	GAA		0.418	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		86	402	1	0	1.32003e-40	1	1.60129e-40	86	402				
ZIC4	84107	broad.mit.edu	37	3	147108745	147108745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108745G>A	ENST00000383075.3	-	4	1489	c.977C>T	c.(976-978)gCg>gTg	p.A326V	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	326						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGTACGCGCCGCCACCGCCGC	0.706																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(976-978)gCg>gTg		Zic family member 4							13.0	17.0	16.0					3																	147108745		2012	4130	6142	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108745G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.977C>T	3.37:g.147108745G>A	ENSP00000372553:p.Ala326Val					ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V	p.A326V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1489	-			326					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.977C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812991	0.32053	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11930	2.81;2.79;2.73;2.81;2.81;2.76	5.18	2.38	0.29361	.	0.655713	0.12653	N	0.450327	T	0.04724	0.0128	N	0.02765	-0.5	0.30740	N	0.7463139999999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.41502	-0.9505	9	0.02654	T	1	.	9.5086	0.39062	0.2357:0.0:0.7643:0.0	.	376;326	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	V	326;364;376;326;326;120	ENSP00000372553:A326V;ENSP00000397695:A364V;ENSP00000435509:A376V;ENSP00000417855:A326V;ENSP00000420775:A326V;ENSP00000418277:A120V	ENSP00000372553:A326V	A	-	2	0	ZIC4	148591435	0.000000	0.05858	0.835000	0.33067	0.798000	0.45092	0.609000	0.24238	0.190000	0.20209	0.561000	0.74099	GCG		0.706	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			31	168	0	0	0	1	0	31	168				
LAMA1	284217	broad.mit.edu	37	18	7013955	7013955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7013955G>A	ENST00000389658.3	-	23	3315	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1074	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AACACTGATCGCAGGCCCGGC	0.597																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3220-3222)tgC>tgT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						49.0	40.0	43.0					18																	7013955		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7013955G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3222C>T	18.37:g.7013955G>A							p.C1074C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			23	3315	-		Colorectal(10;0.172)	1074			Laminin EGF-like 12.			Silent	SNP	ENST00000389658.3	37	c.3222C>T	CCDS32787.1																																																																																				0.597	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		26	111	0	0	0	1	0	26	111				
SIPA1L1	26037	broad.mit.edu	37	14	72090900	72090900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72090900G>A	ENST00000555818.1	+	4	2113	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	589					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGCGGTTGGCCTTCAACAC	0.537																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1765-1767)Gcc>Acc		signal-induced proliferation-associated 1 like 1							160.0	132.0	142.0					14																	72090900		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72090900G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1765G>A	14.37:g.72090900G>A	ENSP00000450832:p.Ala589Thr					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T	p.A589T	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	4	2113	+			589					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1765G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453277	0.96223	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	5.29	5.29	0.74685	.	0.043925	0.85682	D	0.000000	D	0.97204	0.9086	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.958;1.0;1.0;0.455	D;P;D;D;B	0.97110	0.999;0.767;1.0;0.997;0.091	D	0.97588	1.0115	10	0.87932	D	0	-25.7563	19.12	0.93358	0.0:0.0:1.0:0.0	.	64;589;64;589;589	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	T	589;589;589;64;90	ENSP00000370630:A589T;ENSP00000450832:A589T;ENSP00000351352:A589T;ENSP00000440682:A64T;ENSP00000452450:A90T	ENSP00000351352:A589T	A	+	1	0	SIPA1L1	71160653	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GCC		0.537	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		75	368	0	0	0	1	0	75	368				
SERPING1	710	broad.mit.edu	37	11	57373534	57373534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57373534G>T	ENST00000278407.4	+	5	964	c.737G>T	c.(736-738)aGc>aTc	p.S246I	SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I|SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I|SERPING1_ENST00000403558.1_Missense_Mutation_p.S280I|SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	246					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGTACAGCAGCAGCCCCAGA	0.547																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(838-840)aGc>aTc		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							187.0	172.0	177.0					11																	57373534		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57373534G>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.737G>T	11.37:g.57373534G>T	ENSP00000278407:p.Ser246Ile					SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I|SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I|SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I|SERPING1_ENST00000278407.4_Missense_Mutation_p.S246I	p.S280I	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			4	1205	+			246					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.839G>T	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.806050	0.50421	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.23	2.22	0.28083	Serpin domain (3);	0.426738	0.28036	N	0.016851	D	0.90549	0.7038	M	0.86864	2.845	0.37094	D	0.899581	D;D;D;D	0.76494	0.99;0.999;0.99;0.99	P;D;P;P	0.68192	0.904;0.956;0.904;0.904	D	0.89377	0.3679	10	0.87932	D	0	.	4.7356	0.12986	0.1933:0.1795:0.6271:0.0	.	251;280;246;246	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	I	246;246;251;194;280	ENSP00000278407:S246I;ENSP00000341861:S246I;ENSP00000367574:S251I;ENSP00000367575:S194I;ENSP00000384420:S280I	ENSP00000278407:S246I	S	+	2	0	SERPING1	57130110	0.240000	0.23847	1.000000	0.80357	0.333000	0.28666	0.306000	0.19279	0.552000	0.29026	0.561000	0.74099	AGC		0.547	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		126	598	1	0	1.33314e-76	1	1.70118e-76	126	598				
S100A7A	338324	broad.mit.edu	37	1	153391710	153391710	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153391710C>A	ENST00000368729.4	+	3	288	c.231C>A	c.(229-231)tcC>tcA	p.S77S	S100A7A_ENST00000368728.2_Silent_p.S77S|S100A7A_ENST00000329256.2_Silent_p.S77S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTTCTGTCCTTGCTGGGAG	0.517																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(229-231)tcC>tcA		S100 calcium binding protein A7A							96.0	88.0	91.0					1																	153391710		2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391710C>A	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.231C>A	1.37:g.153391710C>A						S100A7A_ENST00000368728.2_Silent_p.S77S|S100A7A_ENST00000329256.2_Silent_p.S77S	p.S77S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	288	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		77			EF-hand 2.		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.231C>A	CCDS30872.1																																																																																				0.517	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		14	395	1	0	1.5842e-08	1	1.65642e-08	14	395				
CLN8	2055	broad.mit.edu	37	8	1719499	1719499	+	Silent	SNP	C	C	T	rs372313992		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1719499C>T	ENST00000331222.4	+	2	526	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	93	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGCTGCATGCCGACAAGGCGC	0.582																																					Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(277-279)gcC>gcT		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)		C		1,4405	2.1+/-5.4	0,1,2202	97.0	89.0	91.0		279	-10.1	0.0	8		91	0,8600		0,0,4300	no	coding-synonymous	CLN8	NM_018941.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		93/287	1719499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1719499C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.279C>T	8.37:g.1719499C>T							p.A93A	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	2	526	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	93			TLC.		Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	c.279C>T	CCDS5956.1																																																																																				0.582	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		44	413	0	0	0	1	0	44	413				
ZNF773	374928	broad.mit.edu	37	19	58018058	58018058	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018058G>A	ENST00000282292.4	+	4	735	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATGTGGGAAAGCCTTTGGTCA	0.453																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(595-597)Gcc>Acc		zinc finger protein 773							56.0	56.0	56.0					19																	58018058		2203	4299	6502	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018058G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.595G>A	19.37:g.58018058G>A	ENSP00000282292:p.Ala199Thr					ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T	p.A199T	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	735	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	199					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.595G>A	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.618	-0.522152	0.04171	.	.	ENSG00000152439	ENST00000282292	T	0.00848	5.62	1.25	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	N	0.20845	0.615	0.09310	N	1	B;P	0.34562	0.095;0.457	B;B	0.31390	0.026;0.129	T	0.48801	-0.9003	9	0.26408	T	0.33	.	3.5081	0.07698	0.0:0.2776:0.442:0.2804	.	198;199	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	T	199	ENSP00000282292:A199T	ENSP00000282292:A199T	A	+	1	0	ZNF773	62709870	0.000000	0.05858	0.027000	0.17364	0.680000	0.39746	-2.333000	0.01108	0.992000	0.38840	0.313000	0.20887	GCC		0.453	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		54	247	0	0	0	1	0	54	247				
BCL6	604	broad.mit.edu	37	3	187449609	187449609	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187449609A>G	ENST00000406870.2	-	4	637	c.271T>C	c.(271-273)Tac>Cac	p.Y91H	BCL6_ENST00000450123.2_Missense_Mutation_p.Y91H|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.Y91H|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGAGATGTGTACATGAAGTCC	0.488			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(271-273)Tac>Cac		B-cell CLL/lymphoma 6							114.0	94.0	101.0					3																	187449609		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187449609A>G		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.271T>C	3.37:g.187449609A>G	ENSP00000384371:p.Tyr91His					RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.Y91H|BCL6_ENST00000232014.4_Missense_Mutation_p.Y91H	p.Y91H	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	4	637	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		91			BTB.		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.271T>C	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752661	0.89753	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339;ENST00000438077	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.65	5.65	0.86999	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97740	1.0208	10	0.87932	D	0	.	15.364	0.74507	1.0:0.0:0.0:0.0	.	91;91	B8PSA7;P41182	.;BCL6_HUMAN	H	91	ENSP00000384371:Y91H;ENSP00000232014:Y91H;ENSP00000413122:Y91H;ENSP00000415574:Y91H;ENSP00000414455:Y91H	ENSP00000232014:Y91H	Y	-	1	0	BCL6	188932303	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.288000	0.76882	0.482000	0.46254	TAC		0.488	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		13	285	0	0	0	1	0	13	285				
KDM5B	10765	broad.mit.edu	37	1	202731903	202731903	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202731903G>T	ENST00000367265.3	-	7	2006	c.842C>A	c.(841-843)cCt>cAt	p.P281H	KDM5B_ENST00000367264.2_Missense_Mutation_p.P317H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	281					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTCTCAATAGGTTCTTGCTT	0.408																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(841-843)cCt>cAt		lysine (K)-specific demethylase 5B							299.0	292.0	295.0					1																	202731903		2202	4300	6502	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202731903G>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.842C>A	1.37:g.202731903G>T	ENSP00000356234:p.Pro281His					KDM5B_ENST00000367264.2_Missense_Mutation_p.P317H	p.P281H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			7	2006	-			281					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.842C>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880655	0.51801	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86230	-1.99;-1.81;-2.09	5.46	4.55	0.56014	.	0.286976	0.42053	D	0.000769	D	0.83252	0.5214	L	0.39898	1.24	0.09310	N	1	D;P	0.61697	0.99;0.928	P;P	0.52031	0.688;0.664	T	0.72988	-0.4124	10	0.20519	T	0.43	-2.7053	6.0717	0.19893	0.2019:0.0:0.7981:0.0	.	317;281	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	281;123;317;123	ENSP00000356234:P281H;ENSP00000356233:P317H;ENSP00000235790:P123H	ENSP00000235790:P123H	P	-	2	0	KDM5B	200998526	0.090000	0.21635	0.760000	0.31359	0.748000	0.42578	1.460000	0.35244	2.554000	0.86153	0.561000	0.74099	CCT		0.408	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		27	1045	1	0	5.35356e-11	1	5.69577e-11	27	1045				
NRP2	8828	broad.mit.edu	37	2	206641143	206641143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206641143G>A	ENST00000357118.4	+	16	2630	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000412873.2_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAAGAAGACCGATCACTCCAT	0.632											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357118.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2599-2601)Gat>Aat		neuropilin 2							109.0	95.0	100.0					2																	206641143		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206641143G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2599G>A	2.37:g.206641143G>A	ENSP00000349632:p.Asp867Asn		OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_ENST00000540841.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540178.1_Intron	p.D867N	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN			16	2630	+			0					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357118.4	37	c.2599G>A	CCDS46498.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818869	0.71028	.	.	ENSG00000118257	ENST00000357118;ENST00000272849	D;D	0.87571	-2.26;-2.27	5.56	5.56	0.83823	.	.	.	.	.	D	0.85656	0.5747	.	.	.	0.80722	D	1	B;B	0.27765	0.188;0.188	B;B	0.26693	0.072;0.072	D	0.83503	0.0076	8	0.66056	D	0.02	.	19.5306	0.95228	0.0:0.0:1.0:0.0	.	867;872	O60462-4;O60462-5	.;.	N	867;872	ENSP00000349632:D867N;ENSP00000272849:D872N	ENSP00000272849:D872N	D	+	1	0	NRP2	206349388	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	5.299000	0.65716	2.609000	0.88269	0.561000	0.74099	GAT		0.632	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1			154	727	0	0	0	1	0	154	727				
PARM1	25849	broad.mit.edu	37	4	75959104	75959104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75959104G>A	ENST00000307428.7	+	3	993	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	261					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAGCATCGCCGCCATTACCGT	0.502																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(781-783)Gcc>Acc		prostate androgen-regulated mucin-like protein 1							40.0	45.0	43.0					4																	75959104		2035	4186	6221	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75959104G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.781G>A	4.37:g.75959104G>A	ENSP00000370224:p.Ala261Thr					PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	p.A261T	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			3	993	+			261					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.781G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755231	0.89843	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.24908	1.83;1.83	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000034	T	0.40398	0.1115	L	0.29908	0.895	0.44500	D	0.997441	D	0.89917	1.0	D	0.97110	1.0	T	0.19321	-1.0309	10	0.87932	D	0	-32.4485	15.4761	0.75481	0.0:0.0:1.0:0.0	.	261	Q6UWI2	PARM1_HUMAN	T	19;261	ENSP00000424276:A19T;ENSP00000370224:A261T	ENSP00000370224:A261T	A	+	1	0	PARM1	76178128	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.204000	0.65180	2.713000	0.92767	0.655000	0.94253	GCC		0.502	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		8	46	0	0	0	1	0	8	46				
NUFIP1	26747	broad.mit.edu	37	13	45554055	45554055	+	Silent	SNP	G	G	A	rs138309260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45554055G>A	ENST00000379161.4	-	4	673	c.627C>T	c.(625-627)caC>caT	p.H209H	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	209					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CAATCTTCTCGTGTGCAGTAA	0.294													G|||	3	0.000599042	0.0	0.0	5008	,	,		18075	0.0		0.001	False		,,,				2504	0.002					ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(625-627)caC>caT		nuclear fragile X mental retardation protein interacting protein 1		G		1,4405	2.1+/-5.4	0,1,2202	63.0	65.0	65.0		627	1.7	1.0	13	dbSNP_134	65	7,8581	5.0+/-18.6	0,7,4287	no	coding-synonymous	NUFIP1	NM_012345.2		0,8,6489	AA,AG,GG		0.0815,0.0227,0.0616		209/496	45554055	8,12986	2203	4294	6497	SO:0001819	synonymous_variant	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45554055G>A	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.627C>T	13.37:g.45554055G>A							p.H209H	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	4	673	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	209					Q8WVM5|Q96SG1	Silent	SNP	ENST00000379161.4	37	c.627C>T	CCDS9393.1																																																																																				0.294	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		21	142	0	0	0	1	0	21	142				
COL27A1	85301	broad.mit.edu	37	9	117002747	117002747	+	Missense_Mutation	SNP	C	C	T	rs200705000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117002747C>T	ENST00000356083.3	+	21	3206	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	939	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCGGGACCCCGTGGGCAGCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17520	0.0		0.0	False		,,,				2504	0.001					ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2815-2817)Cgt>Tgt		collagen, type XXVII, alpha 1		C	CYS/ARG	0,4406		0,0,2203	70.0	80.0	76.0		2815	0.0	0.9	9		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL27A1	NM_032888.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	939/1861	117002747	1,13005	2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117002747C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2815C>T	9.37:g.117002747C>T	ENSP00000348385:p.Arg939Cys						p.R939C	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			21	3206	+			939			Collagen-like 6.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2815C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906833	0.52333	0.0	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93547	-3.24	5.91	0.00205	0.14048	.	.	.	.	.	D	0.91855	0.7422	M	0.88704	2.975	0.40930	D	0.984383	B	0.11235	0.004	B	0.11329	0.006	D	0.85687	0.1304	9	0.56958	D	0.05	.	3.6787	0.08302	0.4976:0.2923:0.126:0.0841	.	939	Q8IZC6	CORA1_HUMAN	C	939	ENSP00000348385:R939C	ENSP00000348385:R939C	R	+	1	0	COL27A1	116042568	0.873000	0.30073	0.948000	0.38648	0.996000	0.88848	1.396000	0.34531	0.070000	0.16634	-0.140000	0.14226	CGT		0.667	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		171	608	0	0	0	1	0	171	608				
CAPN12	147968	broad.mit.edu	37	19	39233119	39233119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39233119C>T	ENST00000328867.4	-	3	665	c.357G>A	c.(355-357)cgG>cgA	p.R119R	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_5'UTR	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	119	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCGCAGGAGCCGGGGATACA	0.622																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(355-357)cgG>cgA		calpain 12							57.0	51.0	53.0					19																	39233119		2203	4300	6503	SO:0001819	synonymous_variant	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39233119C>T	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.357G>A	19.37:g.39233119C>T						CAPN12_ENST00000601953.1_5'UTR	p.R119R	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	665	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		119			Calpain catalytic.			Silent	SNP	ENST00000328867.4	37	c.357G>A	CCDS12519.1																																																																																				0.622	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			25	165	0	0	0	1	0	25	165				
KIAA0895	23366	broad.mit.edu	37	7	36370598	36370598	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36370598A>C	ENST00000297063.6	-	6	1447	c.1397T>G	c.(1396-1398)cTc>cGc	p.L466R	KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000317020.6_Missense_Mutation_p.L415R|KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R|KIAA0895_ENST00000480192.1_5'Flank	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	466										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCTTCCCGAGAGCAGTCAG	0.463																																						ENST00000317020.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1243-1245)cTc>cGc		KIAA0895							122.0	116.0	118.0					7																	36370598		1938	4137	6075	SO:0001583	missense	23366							g.chr7:36370598A>C	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1397T>G	7.37:g.36370598A>C	ENSP00000297063:p.Leu466Arg					KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R|KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R|KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000297063.6_Missense_Mutation_p.L466R	p.L415R	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN			5	1544	-			466					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.1244T>G	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368208	0.61513	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.35	5.35	0.76521	.	0.067296	0.64402	D	0.000009	T	0.77857	0.4193	M	0.69823	2.125	0.80722	D	1	P;D;D;D;D	0.76494	0.738;0.997;0.999;0.999;0.999	B;D;D;D;D	0.75020	0.289;0.966;0.985;0.956;0.956	T	0.80677	-0.1276	9	0.87932	D	0	3.9199	15.4939	0.75634	1.0:0.0:0.0:0.0	.	463;363;466;453;415	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	R	466;453;415;463;363;221	.	ENSP00000297063:L466R	L	-	2	0	KIAA0895	36337123	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	8.438000	0.90305	2.243000	0.73865	0.482000	0.46254	CTC		0.463	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		68	319	0	0	0	1	0	68	319				
KIAA0226	9711	broad.mit.edu	37	3	197408739	197408739	+	Missense_Mutation	SNP	G	G	A	rs374416455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408739G>A	ENST00000296343.5	-	15	2157	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R675C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	720					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTGCACAGCGGTAATTCTGC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21470	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2023-2025)Cgc>Tgc		KIAA0226		G	CYS/ARG,CYS/ARG	0,4318		0,0,2159	100.0	112.0	108.0		2023,2158	5.4	1.0	3		108	1,8501		0,1,4250	no	missense,missense	KIAA0226	NM_001145642.2,NM_014687.1	180,180	0,1,6409	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging	675/928,720/973	197408739	1,12819	2159	4251	6410	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408739G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2158C>T	3.37:g.197408739G>A	ENSP00000296343:p.Arg720Cys					KIAA0226_ENST00000296343.5_Missense_Mutation_p.R720C|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C	p.R675C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	16	2568	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		720					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.2023C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.594923|4.594923	0.86953|0.86953	0.0|0.0	1.18E-4|1.18E-4	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.119767	.|0.64402	.|D	.|0.000019	T|T	0.79293|0.79293	0.4421|0.4421	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.975;0.988	T|T	0.79654|0.79654	-0.1713|-0.1713	5|9	.|0.52906	.|T	.|0.07	.|.	17.798|17.798	0.88579|0.88579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|745;675;720	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|C	681|675;720;745	.|.	.|ENSP00000273582:R675C	P|R	-|-	2|1	0|0	KIAA0226|KIAA0226	198893136|198893136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.984000|4.984000	0.63838|0.63838	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.592	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		29	213	0	0	0	1	0	29	213				
N6AMT2	221143	broad.mit.edu	37	13	21303256	21303256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21303256T>C	ENST00000382758.1	-	5	655	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	203						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAATTCACATAACAGCGAAA	0.463																																						ENST00000382758.1																			0				endometrium(1)|large_intestine(3)|lung(3)	7						c.(607-609)tAt>tGt		N-6 adenine-specific DNA methyltransferase 2 (putative)							225.0	211.0	215.0					13																	21303256		2203	4300	6503	SO:0001583	missense	221143						methyltransferase activity|nucleic acid binding	g.chr13:21303256T>C	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.608A>G	13.37:g.21303256T>C	ENSP00000372206:p.Tyr203Cys					N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C	p.Y203C			Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	5	655	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	203					B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	c.608A>G	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737635	0.69304	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.54279	0.58;0.58	5.86	4.66	0.58398	.	0.124958	0.56097	D	0.000029	T	0.59500	0.2198	M	0.82323	2.585	0.80722	D	1	B	0.27997	0.197	B	0.34242	0.178	T	0.60424	-0.7266	10	0.54805	T	0.06	.	12.3921	0.55364	0.1262:0.0:0.0:0.8737	.	203	Q8WVE0	N6MT2_HUMAN	C	203	ENSP00000372206:Y203C;ENSP00000372202:Y203C	ENSP00000372202:Y203C	Y	-	2	0	N6AMT2	20201256	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	4.848000	0.62874	1.025000	0.39708	0.533000	0.62120	TAT		0.463	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		135	769	0	0	0	1	0	135	769				
ZBTB47	92999	broad.mit.edu	37	3	42705408	42705408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42705408C>T	ENST00000232974.6	+	5	2138	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	ZBTB47_ENST00000505904.1_Silent_p.F165F|ZBTB47_ENST00000457842.3_Silent_p.F243F			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		AGCAGTACTTCGATGAGCACA	0.592																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(727-729)ttC>ttT		zinc finger and BTB domain containing 47							64.0	63.0	63.0					3																	42705408		2203	4299	6502	SO:0001819	synonymous_variant	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42705408C>T	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1857C>T	3.37:g.42705408C>T						ZBTB47_ENST00000505904.1_Silent_p.F165F|ZBTB47_ENST00000232974.6_Silent_p.F619F	p.F243F	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	5	2138	+			243					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Silent	SNP	ENST00000232974.6	37	c.729C>T	CCDS46805.2																																																																																				0.592	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		25	88	0	0	0	1	0	25	88				
BICD2	23299	broad.mit.edu	37	9	95481113	95481113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95481113C>A	ENST00000375512.3	-	5	1881	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	BICD2_ENST00000356884.6_Missense_Mutation_p.S605I	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	605					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGAGGGGCTGCTGTCCCCCGT	0.677																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1813-1815)aGc>aTc		bicaudal D homolog 2 (Drosophila)							26.0	24.0	25.0					9																	95481113		2196	4296	6492	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481113C>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1814G>T	9.37:g.95481113C>A	ENSP00000364662:p.Ser605Ile					BICD2_ENST00000375512.3_Missense_Mutation_p.S605I	p.S605I	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1881	-			605					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1814G>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948065	0.34377	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43688	0.94;0.94	5.18	4.27	0.50696	.	0.256048	0.45606	D	0.000344	T	0.34774	0.0909	L	0.34521	1.04	0.26791	N	0.969393	P;P	0.45474	0.859;0.772	B;P	0.46629	0.387;0.522	T	0.12604	-1.0541	10	0.36615	T	0.2	-22.7187	7.5499	0.27790	0.0:0.8025:0.0:0.1975	.	605;605	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	I	605	ENSP00000349351:S605I;ENSP00000364662:S605I	ENSP00000349351:S605I	S	-	2	0	BICD2	94520934	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	2.114000	0.41911	1.307000	0.44944	0.561000	0.74099	AGC		0.677	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		42	146	1	0	1.49673e-21	1	1.68722e-21	42	146				
ESRRB	2103	broad.mit.edu	37	14	76905708	76905708	+	Silent	SNP	C	C	T	rs1141580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905708C>T	ENST00000509242.1	+	3	110	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ESRRB_ENST00000380887.2_Silent_p.D4D|ESRRB_ENST00000556177.1_Silent_p.D4D|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.D4D	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	4					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTCCTCGGACGACAGGCACC	0.657																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(10-12)gaC>gaT		estrogen-related receptor beta							62.0	67.0	65.0					14																	76905708		2195	4287	6482	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905708C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.12C>T	14.37:g.76905708C>T						ESRRB_ENST00000509242.1_Silent_p.D4D|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.D4D|ESRRB_ENST00000556177.1_Silent_p.D4D	p.D4D			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	84	+			4					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.12C>T	CCDS9850.2																																																																																				0.657	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			116	609	0	0	0	1	0	116	609				
DBP	1628	broad.mit.edu	37	19	49134162	49134162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134162C>T	ENST00000222122.5	-	4	1353	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DBP_ENST00000593500.1_Missense_Mutation_p.V102M|DBP_ENST00000599385.1_Missense_Mutation_p.V102M	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	304	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCCTGGCGCACGGCCACAACT	0.697																																						ENST00000222122.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(910-912)Gtg>Atg		D site of albumin promoter (albumin D-box) binding protein							20.0	22.0	21.0					19																	49134162		2202	4300	6502	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49134162C>T	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.910G>A	19.37:g.49134162C>T	ENSP00000222122:p.Val304Met					DBP_ENST00000599385.1_Missense_Mutation_p.V102M|DBP_ENST00000593500.1_Missense_Mutation_p.V102M	p.V304M	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	4	1353	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	304			Leucine-zipper.		A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.910G>A	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462057	0.43736	.	.	ENSG00000105516	ENST00000222122	T	0.44083	0.93	4.28	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.187492	0.43919	U	0.000519	T	0.28101	0.0693	N	0.16266	0.395	0.37155	D	0.902331	B	0.33739	0.422	B	0.38458	0.274	T	0.25641	-1.0126	10	0.44086	T	0.13	-14.5292	8.2508	0.31717	0.0:0.8921:0.0:0.1079	.	304	Q10586	DBP_HUMAN	M	304	ENSP00000222122:V304M	ENSP00000222122:V304M	V	-	1	0	DBP	53825974	0.002000	0.14202	0.971000	0.41717	0.865000	0.49528	-0.017000	0.12590	2.364000	0.80123	0.563000	0.77884	GTG		0.697	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		17	74	0	0	0	1	0	17	74				
METTL2B	55798	broad.mit.edu	37	7	128119258	128119258	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119258A>C	ENST00000262432.8	+	3	286	c.249A>C	c.(247-249)aaA>aaC	p.K83N	METTL2B_ENST00000480046.1_Missense_Mutation_p.K18N|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	83					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACTTCTACAAAATCCACGAAA	0.328																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(52-54)aaA>aaC		methyltransferase like 2B							30.0	32.0	32.0					7																	128119258		2192	4274	6466	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119258A>C	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.249A>C	7.37:g.128119258A>C	ENSP00000262432:p.Lys83Asn					METTL2B_ENST00000262432.8_Missense_Mutation_p.K83N	p.K18N			Q6P1Q9	MTL2B_HUMAN			2	169	+			83					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.54A>C	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	A	8.219	0.801985	0.16397	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.03951	3.75;3.75;3.75	2.86	1.68	0.24146	.	0.134389	0.64402	D	0.000003	T	0.09598	0.0236	M	0.86343	2.81	0.27564	N	0.950084	B;B	0.33266	0.404;0.276	B;B	0.39531	0.302;0.142	T	0.10917	-1.0609	10	0.51188	T	0.08	-3.801	3.1863	0.06602	0.6121:0.2465:0.1414:0.0	.	18;83	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	N	77;83;18	ENSP00000418634:K77N;ENSP00000262432:K83N;ENSP00000418402:K18N	ENSP00000262432:K83N	K	+	3	2	METTL2B	127906494	1.000000	0.71417	0.652000	0.29579	0.643000	0.38383	1.418000	0.34782	0.332000	0.23536	0.333000	0.21579	AAA		0.328	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		9	305	0	0	0	1	0	9	305				
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1645-1647)gCc>gTc		IQ motif containing B1							181.0	174.0	176.0					3																	121489343		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489343G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1646C>T	3.37:g.121489343G>A	ENSP00000311505:p.Ala549Val					IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	p.A549V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1860	-			549					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1646C>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675748	0.88445	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	L	0.61218	1.895	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.88294	0.2945	10	0.87932	D	0	-5.2747	14.7509	0.69525	0.0:0.0:1.0:0.0	.	549;416	Q15051;Q15051-2	IQCB1_HUMAN;.	V	549;416	ENSP00000311505:A549V;ENSP00000323756:A416V	ENSP00000311505:A549V	A	-	2	0	IQCB1	122972033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.165000	0.71891	2.857000	0.98124	0.650000	0.86243	GCC		0.502	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		172	822	0	0	0	1	0	172	822				
PLAT	5327	broad.mit.edu	37	8	42039493	42039493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42039493C>T	ENST00000220809.4	-	9	1107	c.851G>A	c.(850-852)cGc>cAc	p.R284H	PLAT_ENST00000524009.1_Missense_Mutation_p.R195H|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	284	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CGTCAGCCTGCGGTTCTTCAG	0.522																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(850-852)cGc>cAc		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						100.0	80.0	86.0					8																	42039493		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42039493C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.851G>A	8.37:g.42039493C>T	ENSP00000220809:p.Arg284His					PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000524009.1_Missense_Mutation_p.R195H|PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H	p.R284H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		9	1107	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	284			Kringle 2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.851G>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	1.133	-0.651723	0.03506	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	6.05	-0.0581	0.13798	Kringle (4);Kringle-like fold (1);	0.766331	0.13192	N	0.406602	T	0.44664	0.1304	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.0;0.002;0.002	B;B;B;B;B	0.10450	0.005;0.005;0.003;0.005;0.004	T	0.25328	-1.0135	10	0.19590	T	0.45	.	1.122	0.01727	0.3109:0.3407:0.1012:0.2473	.	158;195;284;238;284	B4DNJ1;B4DN26;B8ZX62;P00750-3;P00750	.;.;.;.;TPA_HUMAN	H	284;284;238;221;158;195	ENSP00000392045:R284H;ENSP00000220809:R284H;ENSP00000270188:R238H;ENSP00000428886:R221H;ENSP00000407861:R158H;ENSP00000429401:R195H	ENSP00000220809:R284H	R	-	2	0	PLAT	42158650	0.000000	0.05858	0.016000	0.15963	0.015000	0.08874	-1.321000	0.02697	-0.307000	0.08804	-0.158000	0.13435	CGC		0.522	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		29	161	0	0	0	1	0	29	161				
TPI1	7167	broad.mit.edu	37	12	6976836	6976836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6976836G>A	ENST00000229270.4	+	1	554	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TPI1_ENST00000396705.5_Missense_Mutation_p.A36T|TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	73					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAAGGTGCCGGCCGACACCGG	0.716																																						ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(217-219)Gcc>Acc		triosephosphate isomerase 1							12.0	14.0	14.0					12																	6976836		2186	4279	6465	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6976836G>A		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.217G>A	12.37:g.6976836G>A	ENSP00000229270:p.Ala73Thr					TPI1_ENST00000396705.5_Missense_Mutation_p.A36T	p.A73T	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN			1	554	+			36		G -> A (in TPI deficiency).			B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.217G>A	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878122	0.51801	.	.	ENSG00000111669	ENST00000229270;ENST00000396705	D;D	0.93953	-3.32;-3.32	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);	0.146358	0.45361	U	0.000372	D	0.89427	0.6712	L	0.39397	1.21	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	D	0.84739	0.0750	10	0.27082	T	0.32	.	14.7388	0.69437	0.0:0.0:0.8539:0.1461	.	73	P60174	TPIS_HUMAN	T	73;36	ENSP00000229270:A73T;ENSP00000379933:A36T	ENSP00000229270:A73T	A	+	1	0	TPI1	6847097	0.941000	0.31946	0.994000	0.49952	0.592000	0.36648	1.613000	0.36900	1.156000	0.42514	-0.357000	0.07601	GCC		0.716	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		34	117	0	0	0	1	0	34	117				
NFAT5	10725	broad.mit.edu	37	16	69725910	69725910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725910C>T	ENST00000354436.2	+	12	2446	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	710					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAGGCTACACAGTTTCAGAC	0.453																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1900-1902)Cag>Tag		nuclear factor of activated T-cells 5, tonicity-responsive							103.0	98.0	100.0					16																	69725910		2198	4300	6498	SO:0001587	stop_gained	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69725910C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2128C>T	16.37:g.69725910C>T	ENSP00000346420:p.Gln710*					NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q710*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*	p.Q634*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3452	+			710					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	37	c.1900C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	39	7.348624	0.98228	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	6.08	6.08	0.98989	.	0.270197	0.42964	D	0.000628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.16	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	728;727;634;710;634	.	ENSP00000338806:Q634X	Q	+	1	0	NFAT5	68283411	1.000000	0.71417	0.998000	0.56505	0.663000	0.39108	3.648000	0.54410	2.894000	0.99253	0.655000	0.94253	CAG		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		70	309	0	0	0	1	0	70	309				
SWT1	54823	broad.mit.edu	37	1	185153444	185153444	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185153444T>C	ENST00000367500.4	+	8	1373	c.1208T>C	c.(1207-1209)tTt>tCt	p.F403S	SWT1_ENST00000367501.3_Missense_Mutation_p.F403S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	403	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CATCTCAAATTTGTTAGAATT	0.269																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1207-1209)tTt>tCt		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							45.0	48.0	47.0					1																	185153444		2189	4278	6467	SO:0001583	missense	54823							g.chr1:185153444T>C	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1208T>C	1.37:g.185153444T>C	ENSP00000356470:p.Phe403Ser					SWT1_ENST00000367501.3_Missense_Mutation_p.F403S	p.F403S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			8	1373	+			403			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1208T>C	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944107	0.73672	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20738	2.05;2.05	5.05	5.05	0.67936	Nucleotide binding protein, PINc (1);	0.059804	0.64402	D	0.000002	T	0.41119	0.1145	L	0.56199	1.76	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.18935	-1.0321	10	0.52906	T	0.07	.	13.6594	0.62357	0.0:0.0:0.0:1.0	.	403	Q5T5J6	SWT1_HUMAN	S	403	ENSP00000356471:F403S;ENSP00000356470:F403S	ENSP00000356470:F403S	F	+	2	0	SWT1	183420067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.118000	0.64673	1.999000	0.58509	0.528000	0.53228	TTT		0.269	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		50	102	0	0	0	1	0	50	102				
TECTB	6975	broad.mit.edu	37	10	114057903	114057903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114057903C>T	ENST00000369422.3	+	7	748	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	250	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CAATGCTTTCCGGTTCCAGAA	0.537																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(748-750)Cgg>Tgg		tectorin beta							132.0	119.0	123.0					10																	114057903		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114057903C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.748C>T	10.37:g.114057903C>T	ENSP00000358430:p.Arg250Trp						p.R250W	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	7	748	+		Colorectal(252;0.198)	250			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.748C>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191743	0.94923	.	.	ENSG00000119913	ENST00000369422	D	0.84370	-1.84	6.03	6.03	0.97812	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92939	0.6370	10	0.72032	D	0.01	-24.7951	20.5666	0.99351	0.0:1.0:0.0:0.0	.	250	Q96PL2	TECTB_HUMAN	W	250	ENSP00000358430:R250W	ENSP00000358430:R250W	R	+	1	2	TECTB	114047893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.575000	0.74018	2.854000	0.98071	0.655000	0.94253	CGG		0.537	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		60	267	0	0	0	1	0	60	267				
DNAAF3	352909	broad.mit.edu	37	19	55672787	55672787	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55672787C>T	ENST00000524407.2	-	7	697		c.e7-1		DNAAF3_ENST00000455045.1_Splice_Site|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank|DNAAF3_ENST00000391720.4_Splice_Site|DNAAF3_ENST00000527223.2_Splice_Site			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3						axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											TGACTTGAGCCTGGGGTGGGG	0.662																																						ENST00000527223.2																			0											c.e7-1		dynein, axonemal, assembly factor 3							11.0	16.0	14.0					19																	55672787		1877	4045	5922	SO:0001630	splice_region_variant	352909							g.chr19:55672787C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.664-1G>A	19.37:g.55672787C>T						DNAAF3_ENST00000524407.2_Splice_Site|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Splice_Site|DNAAF3_ENST00000455045.1_Splice_Site		NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			7	869	-								A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Splice_Site	SNP	ENST00000524407.2	37		CCDS59422.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874690	0.33069	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9309	0.70914	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf51	60364599	1.000000	0.71417	0.931000	0.37212	0.201000	0.24016	3.913000	0.56394	2.324000	0.78689	0.549000	0.68633	.		0.662	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837	Intron	24	97	0	0	0	1	0	24	97				
AKAP17A	8227	broad.mit.edu	37	X	1712941	1712941	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1712941C>T	ENST00000313871.3	+	2	782	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R196W	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	196	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGACCCCTACCGGGAGGAGAT	0.597																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(586-588)Cgg>Tgg		A kinase (PRKA) anchor protein 17A			TRP/ARG	0,4406		0,0,2203	133.0	123.0	127.0		586	0.9	0.1	X		127	1,8591		0,1,4295	no	missense	AKAP17A	NM_005088.2	101	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	196/696	1712941	1,12997	2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712941C>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.586C>T	X.37:g.1712941C>T	ENSP00000324827:p.Arg196Trp					AKAP17A_ENST00000381261.3_Missense_Mutation_p.R196W	p.R196W	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	782	+			196			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.586C>T	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	8.625	0.892372	0.17613	0.0	1.16E-4	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.35973	1.28;1.28	2.04	0.936	0.19488	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	U	0.000004	T	0.53465	0.1798	.	.	.	0.38765	D	0.954426	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.58476	-0.7630	9	0.87932	D	0	.	7.9728	0.30138	0.5008:0.4992:0.0:0.0	.	196;196	Q02040-3;Q02040	.;AK17A_HUMAN	W	196	ENSP00000324827:R196W;ENSP00000370660:R196W	ENSP00000324827:R196W	R	+	1	2	AKAP17A	1672941	1.000000	0.71417	0.090000	0.20809	0.233000	0.25261	0.916000	0.28651	0.822000	0.34565	0.100000	0.15512	CGG		0.597	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		114	508	0	0	0	1	0	114	508				
ASGR2	433	broad.mit.edu	37	17	7017525	7017525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7017525C>A	ENST00000380952.2	-	2	299	c.35G>T	c.(34-36)aGc>aTc	p.S12I	ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	12					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TTCCTCCGAGCTCAGCTGCTG	0.577																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(34-36)aGc>aTc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						143.0	118.0	126.0					17																	7017525		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7017525C>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.35G>T	17.37:g.7017525C>A	ENSP00000370339:p.Ser12Ile					ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I	p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			2	299	-			12					A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.35G>T	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036924	0.19669	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.17691	5.55;2.26;5.55;2.26	3.59	1.37	0.22104	.	0.553741	0.15021	N	0.284975	T	0.10809	0.0264	N	0.08118	0	0.23371	N	0.997814	P;D;P;P;P	0.53151	0.925;0.958;0.645;0.757;0.731	P;P;P;P;B	0.49451	0.611;0.563;0.46;0.544;0.395	T	0.13308	-1.0514	10	0.66056	D	0.02	.	5.1295	0.14903	0.0:0.2587:0.0:0.7413	.	12;12;12;12;12	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2	.;.;ASGR2_HUMAN;.;.	I	12	ENSP00000347140:S12I;ENSP00000254850:S12I;ENSP00000370339:S12I;ENSP00000405844:S12I	ENSP00000254850:S12I	S	-	2	0	ASGR2	6958249	0.899000	0.30636	0.905000	0.35620	0.174000	0.22865	0.538000	0.23160	0.268000	0.21939	-0.312000	0.09012	AGC		0.577	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		31	398	1	0	4.34311e-12	1	4.6502e-12	31	398				
AUTS2	26053	broad.mit.edu	37	7	70255978	70255978	+	Missense_Mutation	SNP	G	G	A	rs148604002	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70255978G>A	ENST00000342771.4	+	19	4097	c.3776G>A	c.(3775-3777)cGa>cAa	p.R1259Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1259										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCGAGGCCCGATAAGCCGAG	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		13907	0.001		0.001	False		,,,				2504	0.0					ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3775-3777)cGa>cAa		autism susceptibility candidate 2		G	GLN/ARG,GLN/ARG	0,4404		0,0,2202	20.0	22.0	21.0		3704,3776	5.1	0.2	7	dbSNP_134	21	2,8592		0,2,4295	yes	missense,missense	AUTS2	NM_001127231.1,NM_015570.2	43,43	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1235/1236,1259/1260	70255978	2,12996	2202	4297	6499	SO:0001583	missense	26053							g.chr7:70255978G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3776G>A	7.37:g.70255978G>A	ENSP00000344087:p.Arg1259Gln					AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	p.R1259Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4097	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1259					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3776G>A	CCDS5539.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	19.09	3.759010	0.69763	0.0	2.33E-4	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.65364	-0.11;-0.15	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.99	T	0.74671	-0.3587	9	.	.	.	.	18.5749	0.91151	0.0:0.0:1.0:0.0	.	711;1235;1259	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	Q	1235;1259	ENSP00000385263:R1235Q;ENSP00000344087:R1259Q	.	R	+	2	0	AUTS2	69893914	1.000000	0.71417	0.192000	0.23308	0.238000	0.25445	7.416000	0.80143	2.391000	0.81399	0.655000	0.94253	CGA		0.602	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			13	86	0	0	0	1	0	13	86				
TJP3	27134	broad.mit.edu	37	19	3730576	3730576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3730576G>A	ENST00000541714.2	+	5	947	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000382008.3_Missense_Mutation_p.R162H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000589378.1_Missense_Mutation_p.R171H|TJP3_ENST00000587686.1_Missense_Mutation_p.R181H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	162					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCATGGGCGTAGGAGCCCA	0.711																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(484-486)cGt>cAt		tight junction protein 3							18.0	19.0	18.0					19																	3730576		2175	4225	6400	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3730576G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.485G>A	19.37:g.3730576G>A	ENSP00000439278:p.Arg162His					TJP3_ENST00000382008.3_Missense_Mutation_p.R162H|TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000587686.1_Missense_Mutation_p.R181H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000589378.1_Missense_Mutation_p.R171H	p.R162H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	5	947	+			162					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.485G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422210	0.25639	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10005	2.94;3.09;2.92;3.02	3.75	2.68	0.31781	.	0.912560	0.09230	N	0.830629	T	0.11750	0.0286	L	0.27053	0.805	0.09310	N	1	D;P;D;D	0.63046	0.989;0.923;0.992;0.98	P;P;B;P	0.51170	0.661;0.487;0.379;0.661	T	0.29882	-0.9997	10	0.27082	T	0.32	.	7.5557	0.27822	0.0:0.1813:0.6317:0.187	.	181;181;162;162	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	162;126;162;181	ENSP00000439278:R162H;ENSP00000439991:R126H;ENSP00000371438:R162H;ENSP00000262968:R181H	ENSP00000262968:R181H	R	+	2	0	TJP3	3681576	0.998000	0.40836	0.370000	0.25965	0.078000	0.17371	4.502000	0.60400	0.752000	0.32923	0.491000	0.48974	CGT		0.711	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			53	213	0	0	0	1	0	53	213				
DDX24	57062	broad.mit.edu	37	14	94545647	94545647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94545647C>T	ENST00000330836.5	-	2	573	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.V105I|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	148					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCAGTTTGGACCAGGTTTTCT	0.473																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(442-444)Gtc>Atc		DEAD (Asp-Glu-Ala-Asp) box helicase 24							92.0	96.0	95.0					14																	94545647		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545647C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.442G>A	14.37:g.94545647C>T	ENSP00000328690:p.Val148Ile					DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.V105I	p.V148I	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	573	-		all_cancers(154;0.12)	148					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.442G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806722	0.16467	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03152	4.03;4.05	5.31	-3.75	0.04372	.	1.340160	0.04202	N	0.330315	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.23442	0.085	B	0.16722	0.016	T	0.44544	-0.9321	10	0.29301	T	0.29	-1.4457	1.0959	0.01673	0.1641:0.2669:0.2463:0.3226	.	148	Q9GZR7	DDX24_HUMAN	I	148;148;105;105	ENSP00000328690:V148I;ENSP00000452145:V105I	ENSP00000328690:V148I	V	-	1	0	DDX24	93615400	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.267000	0.08619	-0.393000	0.07739	0.650000	0.86243	GTC		0.473	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		45	614	0	0	0	1	0	45	614				
RMDN2	151393	broad.mit.edu	37	2	38202392	38202392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38202392G>A	ENST00000406384.1	+	4	859	c.665G>A	c.(664-666)cGt>cAt	p.R222H	RMDN2_ENST00000354545.2_Missense_Mutation_p.R222H|RMDN2_ENST00000234195.3_Missense_Mutation_p.R400H|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Missense_Mutation_p.R77H|RMDN2_ENST00000407257.1_Missense_Mutation_p.R400H	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	222						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											CGATTTGCTCGTGCTTATGGA	0.318																																						ENST00000407257.1																			0											c.(1198-1200)cGt>cAt		regulator of microtubule dynamics 2							124.0	120.0	121.0					2																	38202392		2203	4300	6503	SO:0001583	missense	151393							g.chr2:38202392G>A	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.665G>A	2.37:g.38202392G>A	ENSP00000386004:p.Arg222His					RMDN2_ENST00000417700.2_Missense_Mutation_p.R77H|RMDN2_ENST00000406384.1_Missense_Mutation_p.R222H|RMDN2_ENST00000234195.3_Missense_Mutation_p.R400H|RMDN2_ENST00000354545.2_Missense_Mutation_p.R222H|RMDN2-AS1_ENST00000414365.2_RNA	p.R400H							4	1346	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1199G>A	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831327	0.71258	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.98	4.98	0.66077	.	0.072416	0.56097	D	0.000028	T	0.72740	0.3498	M	0.80847	2.515	0.40703	D	0.982502	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.992;0.991	T	0.77046	-0.2733	10	0.72032	D	0.01	.	13.6036	0.62035	0.0:0.0:1.0:0.0	.	400;77;222;77	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	H	222;222;400;77;400;77	ENSP00000346549:R222H;ENSP00000386004:R222H;ENSP00000385049:R400H;ENSP00000392977:R77H;ENSP00000234195:R400H;ENSP00000416367:R77H	ENSP00000234195:R400H	R	+	2	0	FAM82A1	38055896	0.995000	0.38212	0.638000	0.29380	0.956000	0.61745	5.275000	0.65575	2.576000	0.86940	0.563000	0.77884	CGT		0.318	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		92	242	0	0	0	1	0	92	242				
MYLK	4638	broad.mit.edu	37	3	123348342	123348342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123348342T>G	ENST00000475616.1	-	27	5092	c.5093A>C	c.(5092-5094)aAt>aCt	p.N1698T	MYLK_ENST00000360304.3_Missense_Mutation_p.N1698T|MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK_ENST00000360772.3_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	1698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCAGCAGATTGCTGATGAA	0.493																																						ENST00000360304.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5092-5094)aAt>aCt		myosin light chain kinase							134.0	122.0	126.0					3																	123348342		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123348342T>G	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5093A>C	3.37:g.123348342T>G	ENSP00000418335:p.Asn1698Thr					MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000475616.1_Missense_Mutation_p.N1698T|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK-AS1_ENST00000470449.1_RNA	p.N1698T	NM_053025.3	NP_444253.3	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	30	5374	-		Lung NSC(201;0.0496)	1698			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5093A>C	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800906	0.50315	.	.	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.65	-3.02	0.05446	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.60235	0.2253	N	0.13043	0.29	0.24979	N	0.991617	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.962;0.938;0.969	T	0.59579	-0.7428	9	0.44086	T	0.13	.	13.1719	0.59604	0.0:0.542:0.0:0.458	.	1698;1629;1698	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	T	1698;1629;498;1698	ENSP00000353452:N1698T;ENSP00000320622:N1629T;ENSP00000346846:N498T;ENSP00000418335:N1698T	ENSP00000320622:N1629T	N	-	2	0	MYLK	124831032	0.841000	0.29509	0.016000	0.15963	0.503000	0.33858	0.656000	0.24948	-0.692000	0.05128	-0.904000	0.02843	AAT		0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		68	281	0	0	0	1	0	68	281				
DCTN4	51164	broad.mit.edu	37	5	150097898	150097898	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150097898G>T	ENST00000447998.2	-	11	1126	c.1011C>A	c.(1009-1011)acC>acA	p.T337T	DCTN4_ENST00000446090.2_Silent_p.T344T|DCTN4_ENST00000424236.1_Silent_p.T280T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	337					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACATGGGTGAGGTTCT	0.502																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(1009-1011)acC>acA		dynactin 4 (p62)							132.0	114.0	120.0					5																	150097898		2203	4300	6503	SO:0001819	synonymous_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150097898G>T	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1011C>A	5.37:g.150097898G>T						DCTN4_ENST00000424236.1_Silent_p.T280T|DCTN4_ENST00000446090.2_Silent_p.T344T	p.T337T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1126	-		Medulloblastoma(196;0.167)	337					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Silent	SNP	ENST00000447998.2	37	c.1011C>A	CCDS4310.1																																																																																				0.502	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			7	181	1	0	0.00307968	1	0.00310409	7	181				
NMUR2	56923	broad.mit.edu	37	5	151784223	151784223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151784223G>A	ENST00000255262.3	-	1	617	c.452C>T	c.(451-453)cCg>cTg	p.P151L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	151					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.P151R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGCGCGGAACGGGTGTAGGAT	0.642																																						ENST00000255262.3																			1	Substitution - Missense(1)	p.P151R(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(451-453)cCg>cTg		neuromedin U receptor 2							49.0	55.0	53.0					5																	151784223		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784223G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.452C>T	5.37:g.151784223G>A	ENSP00000255262:p.Pro151Leu					NMUR2_ENST00000518933.1_Intron	p.P151L	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	617	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	151					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.452C>T	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545940	0.86022	.	.	ENSG00000132911	ENST00000255262	T	0.61274	0.12	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.88036	0.6329	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93720	0.7032	10	0.87932	D	0	-21.6404	18.0632	0.89383	0.0:0.0:1.0:0.0	.	151	Q9GZQ4	NMUR2_HUMAN	L	151	ENSP00000255262:P151L	ENSP00000255262:P151L	P	-	2	0	NMUR2	151764416	1.000000	0.71417	0.946000	0.38457	0.607000	0.37147	9.507000	0.97996	2.502000	0.84385	0.591000	0.81541	CCG		0.642	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		93	396	0	0	0	1	0	93	396				
ALAS2	212	broad.mit.edu	37	X	55035746	55035746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55035746C>T	ENST00000330807.5	-	11	1768	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	ALAS2_ENST00000396198.3_Missense_Mutation_p.G531E|ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	544					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGGCAGCCCCACCGCAGT	0.547																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1630-1632)gGg>gAg		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						25.0	21.0	22.0					X																	55035746		2200	4297	6497	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55035746C>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1631G>A	X.37:g.55035746C>T	ENSP00000332369:p.Gly544Glu					ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E|ALAS2_ENST00000396198.3_Missense_Mutation_p.G531E|ALAS2_ENST00000498636.1_5'UTR	p.G544E	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			11	1768	-			544					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1631G>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174616	0.21704	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.97328	-4.34;-4.15;-4.12	5.39	4.52	0.55395	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047841	0.85682	D	0.000000	D	0.96147	0.8744	M	0.77820	2.39	0.58432	D	0.999999	B;B;B	0.31859	0.343;0.343;0.343	B;B;B	0.37833	0.167;0.259;0.216	D	0.94339	0.7569	10	0.48119	T	0.1	-16.5056	8.0581	0.30617	0.1612:0.753:0.0:0.0858	.	507;531;544	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	E	544;531;507	ENSP00000332369:G544E;ENSP00000379501:G531E;ENSP00000337131:G507E	ENSP00000332369:G544E	G	-	2	0	ALAS2	55052471	1.000000	0.71417	0.913000	0.36048	0.012000	0.07955	4.961000	0.63681	1.161000	0.42604	-0.237000	0.12165	GGG		0.547	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		15	50	0	0	0	1	0	15	50				
E2F6	1876	broad.mit.edu	37	2	11597324	11597324	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11597324T>C	ENST00000381525.3	-	2	413	c.144A>G	c.(142-144)gtA>gtG	p.V48V	E2F6_ENST00000362009.4_Silent_p.V48V|E2F6_ENST00000546212.1_Intron|E2F6_ENST00000307236.4_Silent_p.V16V|E2F6_ENST00000542100.1_5'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	48					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		ACACATATTGTACATTATCTT	0.249																																						ENST00000381525.3																			0				cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8						c.(142-144)gtA>gtG		E2F transcription factor 6							79.0	73.0	75.0					2																	11597324		1788	4061	5849	SO:0001819	synonymous_variant	1876				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity	g.chr2:11597324T>C	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.144A>G	2.37:g.11597324T>C						E2F6_ENST00000307236.4_Silent_p.V16V|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000546212.1_Intron|E2F6_ENST00000362009.4_Silent_p.V48V	p.V48V	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	2	413	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		48					A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Silent	SNP	ENST00000381525.3	37	c.144A>G	CCDS1680.2																																																																																				0.249	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	NM_001952		43	114	0	0	0	1	0	43	114				
PROS1	5627	broad.mit.edu	37	3	93611924	93611924	+	Silent	SNP	G	G	A	rs141208672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93611924G>A	ENST00000394236.3	-	10	1324	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	PROS1_ENST00000407433.1_Silent_p.G205G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	336	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		G -> D (in THPH5). {ECO:0000269|PubMed:15712227}.|G -> S (in THPH5). {ECO:0000269|PubMed:9241758}.|G -> V (in THPH5; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found). {ECO:0000269|PubMed:11858485}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAGTATCACGCCTTCTGAAT	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.0					ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1006-1008)ggC>ggT		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	G		1,4405	2.1+/-5.4	0,1,2202	69.0	65.0	66.0		1008	-1.5	1.0	3	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	PROS1	NM_000313.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		336/677	93611924	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611924G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1008C>T	3.37:g.93611924G>A						PROS1_ENST00000407433.1_Silent_p.G205G	p.G336G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			10	1324	-			336		G -> D (in PROS1D).|G -> S (in PROS1D).|G -> V (in PROS1D; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found).	Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.1008C>T	CCDS2923.1																																																																																				0.398	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		46	172	0	0	0	1	0	46	172				
KDELC1	79070	broad.mit.edu	37	13	103440220	103440220	+	Silent	SNP	G	G	A	rs377423123		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103440220G>A	ENST00000376004.4	-	8	1683	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	449						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATATGTCATCGCCCATGAGAT	0.323																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1345-1347)ggC>ggT		KDEL (Lys-Asp-Glu-Leu) containing 1							108.0	101.0	103.0					13																	103440220		2202	4299	6501	SO:0001819	synonymous_variant	79070					endoplasmic reticulum lumen		g.chr13:103440220G>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1347C>T	13.37:g.103440220G>A						KDELC1_ENST00000460338.1_5'UTR	p.G449G	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			8	1683	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		449					Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	c.1347C>T	CCDS9504.1																																																																																				0.323	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			63	327	0	0	0	1	0	63	327				
AFAP1L2	84632	broad.mit.edu	37	10	116060340	116060340	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116060340C>A	ENST00000304129.4	-	14	1681	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S604I|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.S551I			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	551					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGTGCACTGCTGGGGCCATG	0.612																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1651-1653)aGc>aTc		actin filament associated protein 1-like 2							99.0	91.0	94.0					10																	116060340		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060340C>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1652G>T	10.37:g.116060340C>A	ENSP00000303042:p.Ser551Ile					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S604I|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S551I	p.S551I	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	14	1952	-		Colorectal(252;0.175)|Breast(234;0.231)	551					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1652G>T	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122432	0.37436	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.14766	2.49;2.49;2.48	5.61	0.381	0.16228	.	0.674836	0.16406	N	0.215834	T	0.19644	0.0472	M	0.65975	2.015	0.09310	N	1	P;B;B;D;B;P;P	0.54601	0.518;0.178;0.384;0.967;0.253;0.898;0.836	B;B;B;P;B;B;B	0.53593	0.299;0.086;0.157;0.73;0.168;0.425;0.244	T	0.08868	-1.0701	10	0.48119	T	0.1	-1.7918	2.9216	0.05771	0.1239:0.5535:0.12:0.2026	.	604;117;605;73;579;551;551	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	I	551;551;578;604	ENSP00000358276:S551I;ENSP00000303042:S551I;ENSP00000444511:S604I	ENSP00000303042:S551I	S	-	2	0	AFAP1L2	116050330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.106000	0.10890	0.044000	0.15775	-0.123000	0.14984	AGC		0.612	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		12	336	1	0	3.07112e-06	1	3.16074e-06	12	336				
OR2A7	401427	broad.mit.edu	37	7	143956692	143956692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143956692C>T	ENST00000493325.1	-	1	123	c.30G>A	c.(28-30)gaG>gaA	p.E10E	OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GTAGGAGGAACTCTGTGATGG	0.458																																						ENST00000493325.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(28-30)gaG>gaA		olfactory receptor, family 2, subfamily A, member 7							116.0	149.0	138.0					7																	143956692		2202	4300	6502	SO:0001819	synonymous_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956692C>T		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.30G>A	7.37:g.143956692C>T						RP4-798C17.6_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA	p.E10E	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN			1	123	-	Melanoma(164;0.14)		10					B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	37	c.30G>A	CCDS55177.1																																																																																				0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			81	1685	0	0	0	1	0	81	1685				
PTPLA	9200	broad.mit.edu	37	10	17636234	17636234	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636234G>T	ENST00000361271.3	-	6	791	c.754C>A	c.(754-756)Ctt>Att	p.L252I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	252					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTTATAAGAAGAAAATAATAG	0.289																																						ENST00000361271.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						c.(754-756)Ctt>Att		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A							58.0	61.0	60.0					10																	17636234		2202	4295	6497	SO:0001583	missense	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17636234G>T	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.754C>A	10.37:g.17636234G>T	ENSP00000355308:p.Leu252Ile						p.L252I	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN			6	791	-			252					B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	c.754C>A	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892142	0.91889	.	.	ENSG00000165996	ENST00000361271	T	0.36340	1.26	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72353	2.195	0.80722	D	1	P	0.46859	0.885	P	0.55222	0.771	T	0.55667	-0.8105	10	0.59425	D	0.04	-21.2146	20.2406	0.98372	0.0:0.0:1.0:0.0	.	252	B0YJ81	HACD1_HUMAN	I	252	ENSP00000355308:L252I	ENSP00000355308:L252I	L	-	1	0	PTPLA	17676240	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.846000	0.99502	2.857000	0.98124	0.650000	0.86243	CTT		0.289	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		34	233	1	0	6.05902e-23	1	6.8732e-23	34	233				
NLRP10	338322	broad.mit.edu	37	11	7982118	7982118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7982118G>A	ENST00000328600.2	-	2	1202	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACGCTTTGTAGAGAATGTCAT	0.512																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1039-1041)ctC>ctT		NLR family, pyrin domain containing 10							90.0	81.0	84.0					11																	7982118		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982118G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1041C>T	11.37:g.7982118G>A							p.L347L	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1202	-			347			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.1041C>T	CCDS7784.1																																																																																				0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		24	386	0	0	0	1	0	24	386				
KIFC3	3801	broad.mit.edu	37	16	57792813	57792813	+	Missense_Mutation	SNP	G	G	A	rs374127529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57792813G>A	ENST00000379655.4	-	19	2742	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000543930.1_3'UTR|KIFC3_ENST00000445690.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000540079.2_3'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	829					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGCAGTGGCCGCGACTTCCCT	0.662																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2485-2487)Cgg>Tgg		kinesin family member C3		G	,,TRP/ARG	0,4396		0,0,2198	75.0	57.0	63.0		,,2485	2.1	0.5	16		63	1,8597	1.2+/-3.3	0,1,4298	no	utr-3,utr-3,missense	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	,,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,probably-damaging	,,829/834	57792813	1,12993	2198	4299	6497	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57792813G>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2485C>T	16.37:g.57792813G>A	ENSP00000368976:p.Arg829Trp					KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000445690.2_3'UTR|KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000543930.1_3'UTR|KIFC3_ENST00000541240.1_3'UTR	p.R829W	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			19	2742	-		all_neural(199;0.224)	829					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.2485C>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685838	0.29962	0.0	1.16E-4	ENSG00000140859	ENST00000379655	T	0.75704	-0.96	3.22	2.09	0.27110	.	0.214284	0.29246	U	0.012717	T	0.54886	0.1886	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	P	0.45377	0.478	T	0.58103	-0.7695	10	0.87932	D	0	.	7.8619	0.29514	0.0:0.0:0.216:0.784	.	829	Q9BVG8	KIFC3_HUMAN	W	829	ENSP00000368976:R829W	ENSP00000368976:R829W	R	-	1	2	KIFC3	56350314	0.889000	0.30405	0.494000	0.27515	0.090000	0.18270	1.244000	0.32778	0.624000	0.30286	-0.749000	0.03505	CGG		0.662	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		43	241	0	0	0	1	0	43	241				
PLXNA1	5361	broad.mit.edu	37	3	126741119	126741119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741119G>T	ENST00000393409.2	+	21	4230	c.4230G>T	c.(4228-4230)caG>caT	p.Q1410H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q1387H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1410					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCTCAAGCAGCTGCTTTCCG	0.642																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4159-4161)caG>caT		plexin A1							61.0	61.0	61.0					3																	126741119		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126741119G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4230G>T	3.37:g.126741119G>T	ENSP00000377061:p.Gln1410His					PLXNA1_ENST00000393409.2_Missense_Mutation_p.Q1410H	p.Q1387H			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	21	4230	+			1410						Missense_Mutation	SNP	ENST00000393409.2	37	c.4161G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950038	0.53186	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17691	2.26;2.26	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.098879	0.43919	D	0.000501	T	0.19525	0.0469	L	0.39467	1.215	0.80722	D	1	B	0.21309	0.054	B	0.33254	0.16	T	0.14755	-1.0461	10	0.52906	T	0.07	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1410	Q9UIW2	PLXA1_HUMAN	H	1410;1387	ENSP00000377061:Q1410H;ENSP00000251772:Q1387H	ENSP00000251772:Q1387H	Q	+	3	2	PLXNA1	128223809	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.379000	0.66196	2.177000	0.69029	0.467000	0.42956	CAG		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		32	156	1	0	2.68265e-12	1	2.87809e-12	32	156				
MYO5C	55930	broad.mit.edu	37	15	52539194	52539194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52539194G>T	ENST00000261839.7	-	16	2060	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	633	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCATGAGCAAGTACAGAGAGC	0.443																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1897-1899)taC>taA		myosin VC							116.0	115.0	116.0					15																	52539194		2007	4173	6180	SO:0001587	stop_gained	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52539194G>T	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1899C>A	15.37:g.52539194G>T	ENSP00000261839:p.Tyr633*					MYO5C_ENST00000443683.2_3'UTR	p.Y633*	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	16	2060	-			633			Myosin head-like.		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	c.1899C>A	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983179	0.98594	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.27	4.12	0.48240	.	0.660669	0.15813	N	0.243391	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7352	0.23405	0.2559:0.0:0.7441:0.0	.	.	.	.	X	633	.	ENSP00000261839:Y633X	Y	-	3	2	MYO5C	50326486	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.936000	0.40183	2.628000	0.89032	0.561000	0.74099	TAC		0.443	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		52	287	1	0	2.17126e-26	1	2.5019e-26	52	287				
BMS1P20	96610	broad.mit.edu	37	22	22661381	22661381	+	RNA	SNP	G	G	A	rs567124940	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22661381G>A	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGTTGGATACGTGCAGGTGGG	0.502																																						ENST00000426066.1																			0																																																			0							g.chr22:22661381G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661381G>A								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			49	252	0	0	0	1	0	49	252				
OR13A1	79290	broad.mit.edu	37	10	45799016	45799016	+	Silent	SNP	G	G	A	rs189836358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799016G>A	ENST00000553795.1	-	4	1163	c.855C>T	c.(853-855)agC>agT	p.S285S	OR13A1_ENST00000536058.1_Silent_p.S285S|OR13A1_ENST00000374401.2_Silent_p.S285S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCTTCCCTGCGCTGTAGCCAG	0.552													g|||	1	0.000199681	0.0	0.0014	5008	,	,		20967	0.0		0.0	False		,,,				2504	0.0					ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(853-855)agC>agT		olfactory receptor, family 13, subfamily A, member 1		C		1,4405		0,1,2202	70.0	65.0	67.0		855	-2.4	0.0	10		67	0,8600		0,0,4300	no	coding-synonymous	OR13A1	NM_001004297.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		285/329	45799016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799016G>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.855C>T	10.37:g.45799016G>A						OR13A1_ENST00000536058.1_Silent_p.S285S|OR13A1_ENST00000374401.2_Silent_p.S285S	p.S285S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN			4	1163	-			285					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.855C>T	CCDS31188.1																																																																																				0.552	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		52	276	0	0	0	1	0	52	276				
ARAP2	116984	broad.mit.edu	37	4	36118684	36118684	+	Splice_Site	SNP	C	C	T	rs139889832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:36118684C>T	ENST00000303965.4	-	25	4526	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1346	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGAACTTACCCGAATTATAAT	0.328																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.e25+1		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2		C	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	67.0	66.0	67.0		4037	5.8	1.0	4	dbSNP_134	67	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice	ARAP2	NM_015230.3	43	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging	1346/1705	36118684	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36118684C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4038+1G>A	4.37:g.36118684C>T							p.R1346_splice	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			25	4526	-			1346			Ras-associating.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	SNP	ENST00000303965.4	37	c.4038_splice	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660559	0.88154	4.54E-4	4.65E-4	ENSG00000047365	ENST00000303965	T	0.18338	2.22	5.76	5.76	0.90799	Ras-association (2);	0.056391	0.64402	D	0.000002	T	0.28267	0.0698	L	0.28274	0.84	0.42707	D	0.993635	D	0.63046	0.992	P	0.58391	0.838	T	0.00695	-1.1606	10	0.51188	T	0.08	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	1346	Q8WZ64	ARAP2_HUMAN	Q	1346	ENSP00000302895:R1346Q	ENSP00000302895:R1346Q	R	-	2	0	ARAP2	35795079	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.102000	0.50291	2.880000	0.98712	0.650000	0.86243	CGG		0.328	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	Missense_Mutation	19	107	0	0	0	1	0	19	107				
SYNE2	23224	broad.mit.edu	37	14	64434512	64434512	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64434512T>C	ENST00000344113.4	+	11	1288	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	SYNE2_ENST00000554584.1_Missense_Mutation_p.L359P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.L359P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	359					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGGATGAGCTGGACAAGGAT	0.428																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(1075-1077)cTg>cCg		spectrin repeat containing, nuclear envelope 2							133.0	127.0	129.0					14																	64434512		1904	4137	6041	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64434512T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1076T>C	14.37:g.64434512T>C	ENSP00000341781:p.Leu359Pro					SYNE2_ENST00000344113.4_Missense_Mutation_p.L359P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L359P	p.L359P	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	11	1306	+			359					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1076T>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	7.910	0.736240	0.15574	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.62364	0.38;0.38;0.03	5.24	2.8	0.32819	.	0.454238	0.16247	N	0.222862	T	0.56292	0.1975	M	0.61703	1.905	0.80722	D	1	B;B	0.32800	0.266;0.385	B;B	0.33295	0.077;0.161	T	0.53718	-0.8399	10	0.87932	D	0	.	6.9347	0.24461	0.0:0.0775:0.1499:0.7727	.	359;359	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	359	ENSP00000350719:L359P;ENSP00000341781:L359P;ENSP00000452570:L359P	ENSP00000261678:L359P	L	+	2	0	SYNE2	63504265	0.033000	0.19621	0.323000	0.25347	0.034000	0.12701	0.576000	0.23744	0.284000	0.22305	0.482000	0.46254	CTG		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		87	375	0	0	0	1	0	87	375				
NPHS1	4868	broad.mit.edu	37	19	36332624	36332624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36332624G>A	ENST00000378910.5	-	20	2807	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	NPHS1_ENST00000353632.6_Silent_p.V936V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	936	Ig-like C2-type 8.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACTGATGCTGACAAGTTGAA	0.572																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2806-2808)gtC>gtT		nephrosis 1, congenital, Finnish type (nephrin)							158.0	119.0	133.0					19																	36332624		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36332624G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2808C>T	19.37:g.36332624G>A						NPHS1_ENST00000353632.6_Silent_p.V936V	p.V936V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		20	2807	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		936			Ig-like C2-type 8.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.2808C>T	CCDS32996.1																																																																																				0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			28	177	0	0	0	1	0	28	177				
RBM33	155435	broad.mit.edu	37	7	155504066	155504066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155504066C>T	ENST00000401878.3	+	8	1316	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	373	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGATGATGACCCCGCCACCC	0.602																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1117-1119)aCc>aTc		RNA binding motif protein 33							64.0	78.0	73.0					7																	155504066		2110	4218	6328	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155504066C>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1118C>T	7.37:g.155504066C>T	ENSP00000384160:p.Thr373Ile					RBM33_ENST00000486747.1_3'UTR	p.T373I	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	8	1316	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	373			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.1118C>T	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.010313|3.010313	0.54361|0.54361	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878;ENST00000440108	.|T	.|0.52754	.|0.65	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.64776	.|0.929;0.929	T|T	0.56275|0.56275	-0.8006|-0.8006	5|9	.|0.36615	.|T	.|0.2	.|.	13.1715|13.1715	0.59602|0.59602	0.1595:0.8405:0.0:0.0|0.1595:0.8405:0.0:0.0	.|.	.|90;373	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	S|I	145|373;274	.|ENSP00000384160:T373I	.|ENSP00000384160:T373I	P|T	+|+	1|2	0|0	RBM33|RBM33	155196827|155196827	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.768000|0.768000	0.43524|0.43524	3.648000|3.648000	0.54410|0.54410	2.292000|2.292000	0.77174|0.77174	0.557000|0.557000	0.71058|0.71058	CCC|ACC		0.602	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		34	204	0	0	0	1	0	34	204				
CYP2J2	1573	broad.mit.edu	37	1	60377919	60377919	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377919C>A	ENST00000371204.3	-	3	481	c.438G>T	c.(436-438)agG>agT	p.R146S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	146					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AACCAAAGTTCCTTAGTGCTG	0.438																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(436-438)agG>agT		cytochrome P450, family 2, subfamily J, polypeptide 2							204.0	168.0	180.0					1																	60377919		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377919C>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.438G>T	1.37:g.60377919C>A	ENSP00000360247:p.Arg146Ser					CYP2J2_ENST00000492633.1_5'UTR	p.R146S	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			3	481	-	all_cancers(7;0.000396)		146					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.438G>T	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404074	0.62288	.	.	ENSG00000134716	ENST00000371204	T	0.76578	-1.03	5.85	4.94	0.65067	.	0.045766	0.85682	D	0.000000	D	0.89567	0.6752	H	0.94658	3.565	0.40386	D	0.979495	D	0.60575	0.988	D	0.64595	0.927	D	0.91533	0.5244	10	0.87932	D	0	.	10.1236	0.42637	0.0:0.8462:0.0:0.1538	.	146	P51589	CP2J2_HUMAN	S	146	ENSP00000360247:R146S	ENSP00000360247:R146S	R	-	3	2	CYP2J2	60150507	0.302000	0.24454	0.994000	0.49952	0.775000	0.43874	-0.146000	0.10250	1.491000	0.48482	-0.136000	0.14681	AGG		0.438	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		49	505	1	0	5.73435e-26	1	6.59582e-26	49	505				
SPACA4	171169	broad.mit.edu	37	19	49110298	49110298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49110298G>A	ENST00000321762.1	+	1	299	c.63G>A	c.(61-63)aaG>aaA	p.K21K	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	21					cell adhesion (GO:0007155)	anchored component of membrane (GO:0031225)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CGGGCGTCAAGGACTGCGTCT	0.662																																						ENST00000321762.1																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5						c.(61-63)aaG>aaA		sperm acrosome associated 4							81.0	73.0	76.0					19																	49110298		2203	4300	6503	SO:0001819	synonymous_variant	171169				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane		g.chr19:49110298G>A		CCDS12725.1	19q13.33	2013-10-24			ENSG00000177202	ENSG00000177202			16441	protein-coding gene	gene with protein product		609932					Standard	NM_133498		Approved	SAMP14	uc002pjo.3	Q8TDM5	OTTHUMG00000183316	ENST00000321762.1:c.63G>A	19.37:g.49110298G>A						FAM83E_ENST00000263266.3_Intron	p.K21K	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	299	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	21						Silent	SNP	ENST00000321762.1	37	c.63G>A	CCDS12725.1																																																																																				0.662	SPACA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466149.1	NM_133498		9	520	0	0	0	1	0	9	520				
COMMD1	150684	broad.mit.edu	37	2	62132863	62132863	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62132863A>C	ENST00000311832.5	+	1	82	c.50A>C	c.(49-51)aAt>aCt	p.N17T	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	17					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GGGCTGCTGAATGCGCTGGCC	0.692																																						ENST00000311832.5																			0				large_intestine(1)|liver(2)|lung(5)|ovary(1)	9						c.(49-51)aAt>aCt		copper metabolism (Murr1) domain containing 1							21.0	24.0	23.0					2																	62132863		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62132863A>C	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.50A>C	2.37:g.62132863A>C	ENSP00000308236:p.Asn17Thr					COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T	p.N17T	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		1	82	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		17					B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.50A>C	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099746	0.20552	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.10573	2.86;2.86	5.6	-3.72	0.04411	.	0.441952	0.26927	N	0.021794	T	0.10723	0.0262	L	0.61218	1.895	0.24354	N	0.994901	B	0.25486	0.127	B	0.36418	0.224	T	0.29971	-0.9994	10	0.72032	D	0.01	.	2.5888	0.04837	0.4597:0.1174:0.3032:0.1197	.	17	Q8N668	COMD1_HUMAN	T	17	ENSP00000308236:N17T;ENSP00000438961:N17T	ENSP00000308236:N17T	N	+	2	0	COMMD1	61986367	0.923000	0.31300	0.114000	0.21550	0.008000	0.06430	-0.100000	0.10990	-0.831000	0.04256	-0.912000	0.02778	AAT		0.692	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		33	64	0	0	0	1	0	33	64				
TNKS1BP1	85456	broad.mit.edu	37	11	57068363	57068363	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57068363G>A	ENST00000532437.1	-	9	5435	c.5124C>T	c.(5122-5124)tcC>tcT	p.S1708S	TNKS1BP1_ENST00000358252.3_Silent_p.S1708S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1708	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCTACCCTGAGGATTTCTCTG	0.552																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(5122-5124)tcC>tcT		tankyrase 1 binding protein 1, 182kDa							162.0	142.0	149.0					11																	57068363		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57068363G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5124C>T	11.37:g.57068363G>A						TNKS1BP1_ENST00000358252.3_Silent_p.S1708S	p.S1708S			Q9C0C2	TB182_HUMAN			9	5435	-		all_epithelial(135;0.21)	1708			Arg/Glu/Lys-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.5124C>T	CCDS7951.1																																																																																				0.552	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		137	613	0	0	0	1	0	137	613				
PDE11A	50940	broad.mit.edu	37	2	178592804	178592804	+	Missense_Mutation	SNP	G	G	A	rs142279060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178592804G>A	ENST00000286063.6	-	11	2202	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	629					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATGAACATCCGGAGAGCAGCT	0.468									Primary Pigmented Nodular Adrenocortical Disease, Familial				G|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.0		0.0	False		,,,				2504	0.001					ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1885-1887)Cgg>Tgg		phosphodiesterase 11A		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	86.0	88.0		553,1135,811,1885	5.5	1.0	2	dbSNP_134	88	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	185/490,379/684,271/576,629/934	178592804	1,13005	2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178592804G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1885C>T	2.37:g.178592804G>A	ENSP00000286063:p.Arg629Trp					PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W|PDE11A_ENST00000497003.1_5'UTR	p.R629W	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		11	2202	-			629					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1885C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376199	0.82682	2.27E-4	0.0	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.54	5.54	0.83059	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.979	D	0.89515	0.3774	10	0.87932	D	0	.	19.4884	0.95039	0.0:0.0:1.0:0.0	.	379;629	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	W	629;379;271;185;271	ENSP00000286063:R629W;ENSP00000351232:R379W;ENSP00000386539:R271W;ENSP00000374333:R185W;ENSP00000390599:R271W	ENSP00000286063:R629W	R	-	1	2	PDE11A	178301050	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.344000	0.59354	2.609000	0.88269	0.563000	0.77884	CGG		0.468	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			97	202	0	0	0	1	0	97	202				
ZNF480	147657	broad.mit.edu	37	19	52825079	52825079	+	Missense_Mutation	SNP	A	A	C	rs149769756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825079A>C	ENST00000595962.1	+	5	642	c.576A>C	c.(574-576)caA>caC	p.Q192H	ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCCCACAAGAACAGAAAG	0.358																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(574-576)caA>caC		zinc finger protein 480							84.0	85.0	85.0					19																	52825079		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825079A>C	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.576A>C	19.37:g.52825079A>C	ENSP00000471754:p.Gln192His					ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H	p.Q192H	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	642	+			192					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.576A>C	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247096	0.22796	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.28895	1.59;3.28;3.12	1.99	-2.69	0.06022	.	.	.	.	.	T	0.26484	0.0647	L	0.48218	1.51	0.09310	N	1	B;D	0.62365	0.191;0.991	B;P	0.49012	0.093;0.598	T	0.08889	-1.0700	9	0.45353	T	0.12	.	2.2863	0.04127	0.4394:0.0:0.3282:0.2324	.	149;192	F8WEZ9;Q8WV37	.;ZN480_HUMAN	H	192;149;115	ENSP00000417424:Q192H;ENSP00000334164:Q149H;ENSP00000335670:Q115H	ENSP00000334164:Q149H	Q	+	3	2	ZNF480	57516891	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.832000	0.04400	-1.193000	0.02688	-1.645000	0.00762	CAA		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		39	395	0	0	0	1	0	39	395				
PBX3	5090	broad.mit.edu	37	9	128725346	128725346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128725346G>A	ENST00000373489.5	+	8	1194	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	PBX3_ENST00000373487.4_Missense_Mutation_p.G414E|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000538998.1_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	393					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GATGGCCTTGGAGGAAATTCA	0.403																																						ENST00000373487.4																			0				biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1240-1242)gGa>gAa		pre-B-cell leukemia homeobox 3							106.0	96.0	99.0					9																	128725346		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128725346G>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1178G>A	9.37:g.128725346G>A	ENSP00000362588:p.Gly393Glu					PBX3_ENST00000373489.5_Missense_Mutation_p.G393E|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR	p.G414E			P40426	PBX3_HUMAN			9	1321	+			393					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.1241G>A	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463730	0.63513	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.88201	-2.13;1.94;-2.31;-2.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.38175	1.15	0.80722	D	1	P;B	0.42078	0.77;0.286	B;B	0.41440	0.357;0.104	T	0.80888	-0.1181	10	0.02654	T	1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	414;393	Q5JS98;P40426	.;PBX3_HUMAN	E	393;414;212;318	ENSP00000362588:G393E;ENSP00000362586:G414E;ENSP00000362582:G212E;ENSP00000387456:G318E	ENSP00000362582:G212E	G	+	2	0	PBX3	127765167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.568000	0.82369	2.937000	0.99478	0.650000	0.86243	GGA		0.403	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			12	96	0	0	0	1	0	12	96				
CABYR	26256	broad.mit.edu	37	18	21735930	21735930	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21735930A>G	ENST00000399496.3	+	4	630	c.465A>G	c.(463-465)tcA>tcG	p.S155S	CABYR_ENST00000327201.6_Silent_p.S57S|CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000399499.1_Silent_p.S155S|CABYR_ENST00000399481.2_Silent_p.S57S|CABYR_ENST00000415309.2_Silent_p.S155S	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	155					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CACCCTCATCACCACCTCCAA	0.507																																						ENST00000399481.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(169-171)tcA>tcG		calcium binding tyrosine-(Y)-phosphorylation regulated							129.0	94.0	106.0					18																	21735930		2203	4300	6503	SO:0001819	synonymous_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21735930A>G	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.465A>G	18.37:g.21735930A>G						CABYR_ENST00000415309.2_Silent_p.S155S|CABYR_ENST00000399496.3_Silent_p.S155S|CABYR_ENST00000399499.1_Silent_p.S155S|CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000327201.6_Silent_p.S57S	p.S57S			O75952	CABYR_HUMAN			2	323	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		155					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399496.3	37	c.171A>G	CCDS42420.1																																																																																				0.507	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770		17	467	0	0	0	1	0	17	467				
INTS10	55174	broad.mit.edu	37	8	19689592	19689592	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19689592A>C	ENST00000397977.3	+	11	1746	c.1348A>C	c.(1348-1350)Atc>Ctc	p.I450L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	450					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTGGTTAAGAATCTTCCTCAC	0.378																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1348-1350)Atc>Ctc		integrator complex subunit 10							147.0	138.0	141.0					8																	19689592		1930	4124	6054	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19689592A>C	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1348A>C	8.37:g.19689592A>C	ENSP00000381064:p.Ile450Leu						p.I450L	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	11	1746	+			450					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1348A>C	CCDS6011.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.59|12.59|12.59	1.982892|1.982892|1.982892	0.34942|0.34942|0.34942	.|.|.	.|.|.	ENSG00000104613|ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977|ENST00000518799	.|.|.	.|.|.	.|.|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|.	.|0.046970|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.58481|0.58481|0.58481	0.2125|0.2125|0.2125	L|L|L	0.38531|0.38531|0.38531	1.155|1.155|1.155	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|B|.	.|0.12013|.	.|0.005|.	.|B|.	.|0.12156|.	.|0.007|.	T|T|T	0.55055|0.55055|0.55055	-0.8200|-0.8200|-0.8200	5|9|5	.|0.40728|.	.|T|.	.|0.16|.	-25.6753|-25.6753|-25.6753	14.9937|14.9937|14.9937	0.71412|0.71412|0.71412	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|450|.	.|Q9NVR2|.	.|INT10_HUMAN|.	D|L|T	225|450|32	.|.|.	.|ENSP00000381064:I450L|.	E|I|N	+|+|+	3|1|2	2|0|0	INTS10|INTS10|INTS10	19733872|19733872|19733872	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.036000|7.036000|7.036000	0.76524|0.76524|0.76524	2.221000|2.221000|2.221000	0.72209|0.72209|0.72209	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|ATC|AAT		0.378	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		26	284	0	0	0	1	0	26	284				
HTR4	3360	broad.mit.edu	37	5	147863911	147863911	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147863911C>T	ENST00000377888.3	-	7	1215				HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000360693.3_Missense_Mutation_p.A370T|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CAATACCTTGCTAAAATGTCT	0.393																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1108-1110)Gca>Aca		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						77.0	78.0	77.0					5																	147863911		2203	4300	6503	SO:0001627	intron_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147863911C>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-1055G>A	5.37:g.147863911C>T						HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000520514.1_Intron	p.A370T	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1246	-			359					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.1108G>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.906999	0.17833	.	.	ENSG00000164270	ENST00000360693	T	0.71461	-0.57	3.94	0.0902	0.14462	.	35.803200	0.00166	N	0.000000	T	0.51958	0.1705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	9	0.15499	T	0.54	.	6.2857	0.21031	0.0:0.5463:0.0:0.4537	.	370	Q712M9	.	T	370	ENSP00000353915:A370T	ENSP00000353915:A370T	A	-	1	0	HTR4	147844104	0.002000	0.14202	0.002000	0.10522	0.095000	0.18619	-0.379000	0.07437	-0.002000	0.14469	0.650000	0.86243	GCA		0.393	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		40	172	0	0	0	1	0	40	172				
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T	rs545954539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457292C>T	ENST00000228916.2	-	13	1855	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1822-1824)cGa>cAa		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						53.0	53.0	53.0					12																	6457292		2203	4300	6503	SO:0001583	missense	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457292C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1757G>A	12.37:g.6457292C>T	ENSP00000228916:p.Arg586Gln					SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R586Q	p.R608Q			P37088	SCNNA_HUMAN			13	2263	-			586					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1823G>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563445	0.45694	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.72615	-0.63;-0.67;-0.42;-0.63;-0.62	4.54	3.62	0.41486	.	0.121926	0.37178	N	0.002204	T	0.60051	0.2239	L	0.58669	1.825	0.27237	N	0.959242	D;P;B	0.52996	0.957;0.858;0.414	B;B;B	0.36378	0.223;0.163;0.084	T	0.56141	-0.8028	10	0.35671	T	0.21	-15.5739	10.7741	0.46340	0.0:0.9035:0.0:0.0965	.	609;586;645	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	645;608;286;586;609	ENSP00000353292:R645Q;ENSP00000351825:R608Q;ENSP00000440876:R286Q;ENSP00000228916:R586Q;ENSP00000438739:R609Q	ENSP00000228916:R586Q	R	-	2	0	SCNN1A	6327553	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	1.091000	0.30915	0.879000	0.35944	0.561000	0.74099	CGA		0.622	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			14	219	0	0	0	1	0	14	219				
PPP1R16B	26051	broad.mit.edu	37	20	37524228	37524228	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37524228G>T	ENST00000299824.1	+	4	531	c.342G>T	c.(340-342)gaG>gaT	p.E114D	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	114					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACAACTTTGAGGAAATTGTGA	0.607																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(340-342)gaG>gaT		protein phosphatase 1, regulatory subunit 16B							120.0	99.0	106.0					20																	37524228		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37524228G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.342G>T	20.37:g.37524228G>T	ENSP00000299824:p.Glu114Asp					PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D	p.E114D	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			4	531	+		Myeloproliferative disorder(115;0.00878)	114					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.342G>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.02|17.02	3.281561|3.281561	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.64438|.	-0.1;-0.1|.	3.85|3.85	1.84|1.84	0.25277|0.25277	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13371|0.13371	0.34|0.34	0.45979|0.45979	D|D	0.998798|0.998798	P;P|.	0.37548|.	0.599;0.599|.	P;B|.	0.48334|.	0.574;0.444|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.14656|.	T|.	0.56|.	.|.	8.8866|8.8866	0.35406|0.35406	0.2651:0.0:0.7349:0.0|0.2651:0.0:0.7349:0.0	.|.	114;114|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	D|M	114|57	ENSP00000299824:E114D;ENSP00000362428:E114D|.	ENSP00000299824:E114D|.	E|R	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36957642|36957642	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	1.265000|1.265000	0.33027|0.33027	0.400000|0.400000	0.25396|0.25396	-0.161000|-0.161000	0.13427|0.13427	GAG|AGG		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		21	185	1	0	1.96292e-10	1	2.08093e-10	21	185				
TFAP2C	7022	broad.mit.edu	37	20	55206408	55206408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55206408C>T	ENST00000201031.2	+	2	439	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	66	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCCCTACCAGCAGCTGGCCTA	0.697																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(196-198)Cag>Tag		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							31.0	31.0	31.0					20																	55206408		2203	4300	6503	SO:0001587	stop_gained	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206408C>T		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.196C>T	20.37:g.55206408C>T	ENSP00000201031:p.Gln66*					TFAP2C_ENST00000544508.1_5'UTR	p.Q66*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	439	+			66			Gln/Pro-rich (transactivation domain).		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Nonsense_Mutation	SNP	ENST00000201031.2	37	c.196C>T	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	37	6.629559	0.97718	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	.	.	.	5.67	5.67	0.87782	.	0.215838	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-23.8604	19.7658	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	66;54	.	ENSP00000201031:Q66X	Q	+	1	0	TFAP2C	54639815	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.977000	0.76141	2.683000	0.91414	0.561000	0.74099	CAG		0.697	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		53	218	0	0	0	1	0	53	218				
C17orf70	80233	broad.mit.edu	37	17	79514338	79514338	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79514338G>T	ENST00000327787.8	-	5	1816	c.1770C>A	c.(1768-1770)ggC>ggA	p.G590G	C17orf70_ENST00000425898.2_Silent_p.G239G|C17orf70_ENST00000537152.1_Silent_p.G439G			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	590					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCGAGCCCGCCGTTCTCAC	0.692																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1315-1317)ggC>ggA		chromosome 17 open reading frame 70							32.0	33.0	33.0					17																	79514338		2201	4290	6491	SO:0001819	synonymous_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514338G>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1770C>A	17.37:g.79514338G>T						C17orf70_ENST00000327787.8_Silent_p.G590G|C17orf70_ENST00000425898.2_Silent_p.G239G	p.G439G	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1842	-	all_neural(118;0.0878)|Melanoma(429;0.242)		590					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	c.1317C>A	CCDS32765.2																																																																																				0.692	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		90	252	1	0	2.79064e-53	1	3.47735e-53	90	252				
LIMK1	3984	broad.mit.edu	37	7	73523282	73523282	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73523282C>T	ENST00000336180.2	+	10	1251	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	LIMK1_ENST00000538333.3_Silent_p.I366I|LIMK1_ENST00000418310.1_Silent_p.I430I	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TCAAGTTCATCGGGGTGCTCT	0.597																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(1288-1290)atC>atT		LIM domain kinase 1							123.0	96.0	105.0					7																	73523282		2203	4300	6503	SO:0001819	synonymous_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73523282C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1200C>T	7.37:g.73523282C>T						LIMK1_ENST00000538333.3_Silent_p.I366I|LIMK1_ENST00000336180.2_Silent_p.I400I	p.I430I			P53667	LIMK1_HUMAN			10	1392	+		Lung NSC(55;0.137)	400			Protein kinase.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	37	c.1290C>T	CCDS5563.1																																																																																				0.597	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		43	232	0	0	0	1	0	43	232				
SLC7A8	23428	broad.mit.edu	37	14	23609809	23609809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23609809T>G	ENST00000316902.7	-	5	1384	c.659A>C	c.(658-660)aAg>aCg	p.K220T	SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T|SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	220					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAATGCATTCTTTGGCTCCAG	0.567																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(658-660)aAg>aCg		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						122.0	121.0	121.0					14																	23609809		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23609809T>G	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.659A>C	14.37:g.23609809T>G	ENSP00000320378:p.Lys220Thr					SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T	p.K220T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	5	1384	-	all_cancers(95;4.6e-05)		220					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.659A>C	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301603	0.40694	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000469263;ENST00000453702;ENST00000529705;ENST00000206514	D;D;D;D	0.89270	-2.49;-2.49;-2.22;-2.49	4.81	4.81	0.61882	Amino acid permease domain (1);	0.116516	0.64402	D	0.000020	T	0.76227	0.3958	N	0.04090	-0.28	0.80722	D	1	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.18263	0.021;0.006;0.005	T	0.71220	-0.4657	10	0.22706	T	0.39	.	13.6703	0.62420	0.0:0.0:0.0:1.0	.	115;220;220	B4DKT4;E9PLV9;Q9UHI5	.;.;LAT2_HUMAN	T	220;17;220;17;115;17	ENSP00000320378:K220T;ENSP00000435114:K220T;ENSP00000391577:K17T;ENSP00000434345:K115T	ENSP00000206514:K17T	K	-	2	0	SLC7A8	22679649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.870000	0.39529	1.946000	0.56461	0.460000	0.39030	AAG		0.567	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			145	625	0	0	0	1	0	145	625				
CNTNAP2	26047	broad.mit.edu	37	7	146471401	146471401	+	Missense_Mutation	SNP	G	G	A	rs137924687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146471401G>A	ENST00000361727.3	+	2	652	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	46	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCCCATGTGGCTTTCAG	0.438										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(136-138)Gtg>Atg		contactin associated protein-like 2		G	MET/VAL	9,4397	15.5+/-35.6	0,9,2194	74.0	72.0	72.0		136	1.7	0.0	7	dbSNP_134	72	0,8600		0,0,4300	yes	missense	CNTNAP2	NM_014141.5	21	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	46/1332	146471401	9,12997	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146471401G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.136G>A	7.37:g.146471401G>A	ENSP00000354778:p.Val46Met	HNSCC(39;0.1)					p.V46M	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		2	652	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	46			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.136G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	7.220	0.597235	0.13875	0.002043	0.0	ENSG00000174469	ENST00000361727	D	0.97186	-4.28	5.74	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	1.629630	0.04097	N	0.312269	D	0.91962	0.7454	N	0.16368	0.405	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.82900	-0.0228	10	0.36615	T	0.2	.	2.1205	0.03724	0.1681:0.2845:0.401:0.1463	.	46	Q9UHC6	CNTP2_HUMAN	M	46	ENSP00000354778:V46M	ENSP00000354778:V46M	V	+	1	0	CNTNAP2	146102334	0.000000	0.05858	0.001000	0.08648	0.376000	0.30014	0.138000	0.16016	0.029000	0.15352	0.650000	0.86243	GTG		0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			22	152	0	0	0	1	0	22	152				
GRIN2B	2904	broad.mit.edu	37	12	13906396	13906396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13906396G>A	ENST00000609686.1	-	3	1074	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	289					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGGCGGGGAGGCCATAGTCC	0.537																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(865-867)Ctc>Ttc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						95.0	85.0	88.0					12																	13906396		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906396G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.865C>T	12.37:g.13906396G>A	ENSP00000477455:p.Leu289Phe						p.L289F	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			3	1074	-			289					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.865C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846065	0.91277	.	.	ENSG00000150086	ENST00000279593	T	0.10763	2.84	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.85299	2.745	0.80722	D	1	P	0.34780	0.468	B	0.35278	0.199	T	0.02539	-1.1144	10	0.56958	D	0.05	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	289	Q13224	NMDE2_HUMAN	F	289	ENSP00000279593:L289F	ENSP00000279593:L289F	L	-	1	0	GRIN2B	13797663	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.461000	0.73522	2.775000	0.95449	0.655000	0.94253	CTC		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			37	222	0	0	0	1	0	37	222				
ANO3	63982	broad.mit.edu	37	11	26463513	26463513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26463513C>T	ENST00000256737.3	+	2	947	c.95C>T	c.(94-96)cCg>cTg	p.P32L	ANO3_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L|ANO3_ENST00000537978.1_Missense_Mutation_p.P16L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	32					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCGTTAAAACCGTCTCGGAGA	0.428																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(94-96)cCg>cTg		anoctamin 3							130.0	134.0	133.0					11																	26463513		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26463513C>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.95C>T	11.37:g.26463513C>T	ENSP00000256737:p.Pro32Leu					ANO3_ENST00000537978.1_Missense_Mutation_p.P16L|ANO3_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L	p.P32L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			2	947	+			32					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.95C>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439921	0.63067	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	N	0.19112	0.55	0.58432	D	0.999996	D	0.52996	0.957	B	0.41440	0.357	T	0.53865	-0.8378	10	0.49607	T	0.09	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	32	Q9BYT9	ANO3_HUMAN	L	16;16;32;32	ENSP00000440737:P16L;ENSP00000432576:P16L;ENSP00000256737:P32L;ENSP00000435275:P32L	ENSP00000256737:P32L	P	+	2	0	ANO3	26420089	0.995000	0.38212	0.981000	0.43875	0.633000	0.38033	4.172000	0.58243	2.831000	0.97527	0.650000	0.86243	CCG		0.428	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		151	718	0	0	0	1	0	151	718				
NDUFAF3	25915	broad.mit.edu	37	3	49060138	49060138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060138G>A	ENST00000326925.6	+	3	1408	c.274G>A	c.(274-276)Gga>Aga	p.G92R	DALRD3_ENST00000496568.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R|DALRD3_ENST00000440857.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	92					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCACAGGTGGGATCCCACCA	0.562																																						ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(274-276)Gga>Aga		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							170.0	169.0	169.0					3																	49060138		2203	4300	6503	SO:0001583	missense	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49060138G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.274G>A	3.37:g.49060138G>A	ENSP00000323076:p.Gly92Arg					NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R	p.G92R	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			3	1408	+			92						Missense_Mutation	SNP	ENST00000326925.6	37	c.274G>A	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876088	0.91664	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	L	0.36672	1.1	0.80722	D	1	D	0.54964	0.969	D	0.63597	0.916	T	0.76069	-0.3094	10	0.15952	T	0.53	-13.5357	18.9288	0.92556	0.0:0.0:1.0:0.0	.	92	Q9BU61	NDUF3_HUMAN	R	35;92;35;35	ENSP00000323003:G35R;ENSP00000323076:G92R;ENSP00000378843:G35R;ENSP00000402465:G35R	ENSP00000323003:G35R	G	+	1	0	NDUFAF3	49035142	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.230000	0.95299	2.567000	0.86603	0.591000	0.81541	GGA		0.562	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		88	1094	0	0	0	1	0	88	1094				
AHNAK2	113146	broad.mit.edu	37	14	105411530	105411530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105411530G>T	ENST00000333244.5	-	7	10377	c.10258C>A	c.(10258-10260)Cta>Ata	p.L3420I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3420						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACTTTTAGGTCCAGCTTG	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10258-10260)Cta>Ata		AHNAK nucleoprotein 2							157.0	171.0	166.0					14																	105411530		1892	4131	6023	SO:0001583	missense	113146					nucleus		g.chr14:105411530G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10258C>A	14.37:g.105411530G>T	ENSP00000353114:p.Leu3420Ile					AHNAK2_ENST00000557457.1_Intron	p.L3420I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10377	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3420					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10258C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	3.767	-0.048412	0.07407	.	.	ENSG00000185567	ENST00000333244	T	0.01902	4.57	4.31	-5.55	0.02536	.	.	.	.	.	T	0.01695	0.0054	L	0.28014	0.82	0.09310	N	1	B	0.33940	0.433	B	0.26310	0.068	T	0.34153	-0.9840	9	0.19147	T	0.46	.	15.6144	0.76753	0.0:0.7229:0.1753:0.1018	.	3420	Q8IVF2	AHNK2_HUMAN	I	3420	ENSP00000353114:L3420I	ENSP00000353114:L3420I	L	-	1	2	AHNAK2	104482575	.	.	0.040000	0.18447	0.017000	0.09413	.	.	-1.090000	0.03069	-0.479000	0.04858	CTA		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		301	1309	1	0	9.30315e-85	1	1.1921e-84	301	1309				
MAST1	22983	broad.mit.edu	37	19	12976850	12976850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12976850C>T	ENST00000251472.4	+	17	2002	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTGGACAGGGCTGCTGAGGCA	0.592																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1963-1965)Ctg>Ttg		microtubule associated serine/threonine kinase 1							65.0	59.0	61.0					19																	12976850		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12976850C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1963C>T	19.37:g.12976850C>T							p.L655L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			17	2002	+			655			AGC-kinase C-terminal.			Silent	SNP	ENST00000251472.4	37	c.1963C>T	CCDS32921.1																																																																																				0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		10	267	0	0	0	1	0	10	267				
CEP170B	283638	broad.mit.edu	37	14	105353570	105353570	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105353570C>T	ENST00000414716.3	+	12	3222	c.2994C>T	c.(2992-2994)acC>acT	p.T998T	CEP170B_ENST00000418279.1_Silent_p.T928T|CEP170B_ENST00000453495.1_Silent_p.T999T|CEP170B_ENST00000556508.1_Silent_p.T928T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	998						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGGGAGGCACCGCCCTGGTCA	0.682																																						ENST00000453495.1																			0											c.(2995-2997)acC>acT		centrosomal protein 170B							15.0	20.0	18.0					14																	105353570		2098	4214	6312	SO:0001819	synonymous_variant	283638							g.chr14:105353570C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2994C>T	14.37:g.105353570C>T						CEP170B_ENST00000418279.1_Silent_p.T928T|CEP170B_ENST00000556508.1_Silent_p.T928T|CEP170B_ENST00000414716.3_Silent_p.T998T	p.T999T							12	3225	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.2997C>T	CCDS45175.1																																																																																				0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		35	161	0	0	0	1	0	35	161				
RUVBL2	10856	broad.mit.edu	37	19	49513315	49513315	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49513315G>T	ENST00000595090.1	+	8	1119	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G174C|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	219					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGACGCTATGGGCTCCCAGGT	0.652																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(520-522)Ggc>Tgc		RuvB-like AAA ATPase 2							32.0	34.0	33.0					19																	49513315		1941	4115	6056	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49513315G>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.655G>T	19.37:g.49513315G>T	ENSP00000473172:p.Gly219Cys					RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G219C	p.G174C			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	8	1668	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	219					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.520G>T	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038964	0.75617	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.47177	0.85	4.19	4.19	0.49359	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.85128	0.0973	10	0.87932	D	0	-33.5793	14.4091	0.67103	0.0:0.0:1.0:0.0	.	219;219;185	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	C	219;174	ENSP00000413890:G174C	ENSP00000221413:G219C	G	+	1	0	RUVBL2	54205127	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	8.327000	0.90012	2.341000	0.79615	0.650000	0.86243	GGC		0.652	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			46	189	1	0	2.68985e-26	1	3.09749e-26	46	189				
ZNF749	388567	broad.mit.edu	37	19	57954768	57954768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954768G>A	ENST00000334181.4	+	3	502	c.252G>A	c.(250-252)caG>caA	p.Q84Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGAAGGCCCAGCCCTGCAAGA	0.522																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(250-252)caG>caA		zinc finger protein 749							84.0	75.0	78.0					19																	57954768		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57954768G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.252G>A	19.37:g.57954768G>A						AC004076.9_ENST00000596831.1_Intron	p.Q84Q	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	502	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	84			KRAB.			Silent	SNP	ENST00000334181.4	37	c.252G>A	CCDS33132.2																																																																																				0.522	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		54	180	0	0	0	1	0	54	180				
MYBPC3	4607	broad.mit.edu	37	11	47355139	47355139	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47355139C>A	ENST00000545968.1	-	29	3213	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1053D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1053	Ig-like C2-type 6.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGCCTTGTCCTCCATGTTCT	0.637																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(3157-3159)gaG>gaT		myosin binding protein C, cardiac							70.0	75.0	73.0					11																	47355139		2178	4257	6435	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47355139C>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3159G>T	11.37:g.47355139C>A	ENSP00000442795:p.Glu1053Asp					MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D|MYBPC3_ENST00000545968.1_Missense_Mutation_p.E1053D	p.E1053D			Q14896	MYPC3_HUMAN		Lung(87;0.176)	28	3213	-			1052			Ig-like C2-type 6.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.3159G>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642978	0.67244	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.69435	-0.4;-0.4;-0.4	5.22	3.21	0.36854	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69851	0.3157	M	0.80982	2.52	0.42771	D	0.993839	P	0.37015	0.578	P	0.45712	0.491	T	0.65187	-0.6229	9	0.19590	T	0.45	.	8.5207	0.33273	0.2191:0.6975:0.0:0.0834	.	1052	Q14896	MYPC3_HUMAN	D	1053;1053;1052	ENSP00000442795:E1053D;ENSP00000382193:E1053D;ENSP00000256993:E1052D	ENSP00000256993:E1052D	E	-	3	2	MYBPC3	47311715	0.983000	0.35010	1.000000	0.80357	0.974000	0.67602	0.206000	0.17375	1.198000	0.43158	0.484000	0.47621	GAG		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			51	221	1	0	3.68337e-26	1	4.24002e-26	51	221				
ANKLE2	23141	broad.mit.edu	37	12	133331501	133331501	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133331501G>T	ENST00000357997.5	-	2	489	c.400C>A	c.(400-402)Cca>Aca	p.P134T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.P72T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	134					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATCCTTTGTGGGTCCTGGCTG	0.483																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(214-216)Cca>Aca		ankyrin repeat and LEM domain containing 2							60.0	61.0	61.0					12																	133331501		1909	4130	6039	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331501G>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.400C>A	12.37:g.133331501G>T	ENSP00000350686:p.Pro134Thr					ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T|ANKLE2_ENST00000357997.5_Missense_Mutation_p.P134T	p.P72T			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	1	6898	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	134			LEM.		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.214C>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304815	0.01353	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.27104	2.11;2.12;1.69	5.27	0.0898	0.14460	.	0.936787	0.09106	N	0.847758	T	0.04003	0.0112	N	0.00099	-2.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38607	-0.9653	10	0.02654	T	1	-5.3471	5.8122	0.18471	0.0:0.1446:0.2667:0.5888	.	134;134	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	72;134;134	ENSP00000446268:P72T;ENSP00000350686:P134T;ENSP00000337651:P134T	ENSP00000337651:P134T	P	-	1	0	ANKLE2	131841574	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.065000	0.11617	-0.217000	0.10033	-0.265000	0.10407	CCA		0.483	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			67	225	1	0	4.73848e-44	1	5.79357e-44	67	225				
IGHA2	3494	broad.mit.edu	37	14	106054176	106054176	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106054176A>G	ENST00000390539.2	-	0	342				AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CGGTGCAGCGACAGTCGGGGG	0.667																																						ENST00000390539.2																			0																				21.0	23.0	23.0					14																	106054176		2051	4159	6210			0							g.chr14:106054176A>G	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054176A>G														0	342	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.667	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		30	91	0	0	0	1	0	30	91				
UBN2	254048	broad.mit.edu	37	7	138968305	138968305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968305G>A	ENST00000473989.3	+	15	2654	c.2654G>A	c.(2653-2655)aGc>aAc	p.S885N	UBN2_ENST00000288561.8_Missense_Mutation_p.S802N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	885	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGAGGTCAAGCCAGATTCAC	0.483																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2404-2406)aGc>aAc		ubinuclein 2							86.0	85.0	85.0					7																	138968305		1952	4153	6105	SO:0001583	missense	254048							g.chr7:138968305G>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2654G>A	7.37:g.138968305G>A	ENSP00000418648:p.Ser885Asn					UBN2_ENST00000473989.2_Missense_Mutation_p.S885N	p.S802N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	2654	+			885					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2405G>A	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289146	0.40494	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35789	1.33;1.29	5.55	5.55	0.83447	.	0.190170	0.49305	D	0.000144	T	0.29976	0.0750	L	0.43152	1.355	0.33106	D	0.539887	B	0.32245	0.361	B	0.24155	0.051	T	0.40813	-0.9543	10	0.37606	T	0.19	-3.5989	14.6869	0.69055	0.0:0.0:0.8548:0.1451	.	885	Q6ZU65	UBN2_HUMAN	N	885;802	ENSP00000418648:S885N;ENSP00000288561:S802N	ENSP00000288561:S802N	S	+	2	0	UBN2	138618845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.846000	0.55888	2.775000	0.95449	0.467000	0.42956	AGC		0.483	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		48	420	0	0	0	1	0	48	420				
CACNA1B	774	broad.mit.edu	37	9	141016245	141016245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141016245G>A	ENST00000371372.1	+	47	6959	c.6814G>A	c.(6814-6816)Gcc>Acc	p.A2272T	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A1466T|CACNA1B_ENST00000277551.2_Silent_p.T2209T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2272					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTGTCCACGCCCTGCCTGA	0.647																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4396-4398)Gcc>Acc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						42.0	46.0	45.0					9																	141016245		2070	4191	6261	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016245G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6814G>A	9.37:g.141016245G>A	ENSP00000360423:p.Ala2272Thr					CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A2272T|CACNA1B_ENST00000277551.2_Silent_p.T2209T	p.A1466T			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6965	+	all_cancers(76;0.166)		2272					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4396G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311920	0.23821	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96940	-3.96;-4.18;-3.95;-3.94;-3.94	5.11	-6.17	0.02091	.	0.987100	0.08256	N	0.973720	D	0.90896	0.7139	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.79313	-0.1855	10	0.12766	T	0.61	.	9.4673	0.38820	0.1512:0.2673:0.5814:0.0	.	2271;2270	B1AQK7;B1AQK6	.;.	T	2272;1466;2270;2271;2273	ENSP00000360423:A2272T;ENSP00000277549:A1466T;ENSP00000360414:A2270T;ENSP00000360408:A2271T;ENSP00000360406:A2273T	ENSP00000277549:A1466T	A	+	1	0	CACNA1B	140136066	0.000000	0.05858	0.003000	0.11579	0.919000	0.55068	-0.452000	0.06787	-1.095000	0.03050	-0.378000	0.06908	GCC		0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		13	342	0	0	0	1	0	13	342				
CDH13	1012	broad.mit.edu	37	16	83704532	83704532	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83704532C>T	ENST00000566620.1	+	9	1529	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CDH13_ENST00000428848.3_Silent_p.I374I|CDH13_ENST00000268613.10_Silent_p.I460I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	413	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCTTTGAAATCCACACCAACC	0.517																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1237-1239)atC>atT		cadherin 13							146.0	145.0	145.0					16																	83704532		1957	4143	6100	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704532C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1239C>T	16.37:g.83704532C>T						CDH13_ENST00000428848.3_Silent_p.I374I|CDH13_ENST00000268613.10_Silent_p.I460I	p.I413I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1529	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	413			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1239C>T	CCDS58486.1																																																																																				0.517	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		57	674	0	0	0	1	0	57	674				
PDE6C	5146	broad.mit.edu	37	10	95396763	95396763	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95396763G>T	ENST00000371447.3	+	11	1563	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	475					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AATTTCAAGAGAAGTTAAATG	0.308																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1423-1425)gaG>gaT		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							75.0	77.0	76.0					10																	95396763		2201	4299	6500	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95396763G>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1425G>T	10.37:g.95396763G>T	ENSP00000360502:p.Glu475Asp						p.E475D	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			11	1563	+		Colorectal(252;0.123)	475					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1425G>T	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904077	0.33628	.	.	ENSG00000095464	ENST00000371447	T	0.65549	-0.16	5.0	0.877	0.19145	.	0.047002	0.85682	D	0.000000	T	0.50394	0.1613	L	0.54965	1.715	0.48975	D	0.999737	B	0.15719	0.014	B	0.16289	0.015	T	0.41840	-0.9486	10	0.44086	T	0.13	.	6.0976	0.20028	0.2834:0.0:0.5933:0.1234	.	475	P51160	PDE6C_HUMAN	D	475	ENSP00000360502:E475D	ENSP00000360502:E475D	E	+	3	2	PDE6C	95386753	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.304000	0.33482	0.398000	0.25338	0.561000	0.74099	GAG		0.308	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		19	102	1	0	2.35188e-11	1	2.50879e-11	19	102				
KCNMB4	27345	broad.mit.edu	37	12	70760741	70760741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70760741G>A	ENST00000258111.4	+	1	686	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	76					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GGCGCCGACTGCAGGGGCACC	0.637																																						ENST00000258111.4																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.(226-228)tGc>tAc		potassium large conductance calcium-activated channel, subfamily M, beta member 4							64.0	62.0	63.0					12																	70760741		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70760741G>A	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.227G>A	12.37:g.70760741G>A	ENSP00000258111:p.Cys76Tyr						p.C76Y	NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		1	686	+	Renal(347;0.236)		76					Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.227G>A	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994370	0.74703	.	.	ENSG00000135643	ENST00000258111	T	0.13538	2.58	3.37	2.44	0.29823	.	0.055295	0.64402	D	0.000001	T	0.26048	0.0635	M	0.74647	2.275	0.49130	D	0.999751	D	0.55385	0.971	P	0.52109	0.69	T	0.03910	-1.0993	10	0.66056	D	0.02	-5.2443	11.7488	0.51837	0.0:0.0:0.8218:0.1782	.	76	Q86W47	KCMB4_HUMAN	Y	76	ENSP00000258111:C76Y	ENSP00000258111:C76Y	C	+	2	0	KCNMB4	69047008	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.311000	0.89973	0.472000	0.27344	0.491000	0.48974	TGC		0.637	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		100	393	0	0	0	1	0	100	393				
PRLR	5618	broad.mit.edu	37	5	35065420	35065420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065420G>T	ENST00000382002.5	-	10	2066	c.1640C>A	c.(1639-1641)gCc>gAc	p.A547D	PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	547					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GGACACCTTGGCATACTCCTT	0.493																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1639-1641)gCc>gAc		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						95.0	87.0	90.0					5																	35065420		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065420G>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1640C>A	5.37:g.35065420G>T	ENSP00000371432:p.Ala547Asp					PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000542609.1_Intron	p.A547D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2066	-	all_lung(31;3.83e-05)		547					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1640C>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944679	0.34283	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;D;D	0.89343	-2.5;-1.57;-2.5	5.77	4.9	0.64082	.	0.246910	0.46145	D	0.000310	D	0.92195	0.7525	M	0.74881	2.28	0.26422	N	0.976087	P;D	0.56035	0.956;0.974	P;P	0.54590	0.575;0.756	D	0.87310	0.2311	10	0.72032	D	0.01	-4.9035	14.5909	0.68365	0.0697:0.0:0.9303:0.0	.	547;446	P16471;P16471-2	PRLR_HUMAN;.	D	446;547;446	ENSP00000339213:A446D;ENSP00000371432:A547D;ENSP00000422556:A446D	ENSP00000339213:A446D	A	-	2	0	PRLR	35101177	0.614000	0.27017	0.307000	0.25127	0.035000	0.12851	4.279000	0.58953	1.444000	0.47605	0.655000	0.94253	GCC		0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			43	283	1	0	9.14704e-12	1	9.77761e-12	43	283				
LINC01317	104355287	broad.mit.edu	37	2	33952356	33952356	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33952356G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							AGCCCCAACAGGAAACTGGGG	0.627																																						ENST00000366209.2																			0																																																			0							g.chr2:33952356G>T																													2.37:g.33952356G>T						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.627	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			7	157	1	0	2.17888e-05	1	2.22852e-05	7	157				
PAXIP1	22976	broad.mit.edu	37	7	154767875	154767875	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154767875T>G	ENST00000404141.1	-	6	759	c.605A>C	c.(604-606)gAa>gCa	p.E202A	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E202A|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	202					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ttcctcattttctacttcctc	0.438																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(604-606)gAa>gCa		PAX interacting (with transcription-activation domain) protein 1							127.0	115.0	119.0					7																	154767875		1986	4189	6175	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767875T>G	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.605A>C	7.37:g.154767875T>G	ENSP00000384048:p.Glu202Ala					PAXIP1_ENST00000397192.1_Missense_Mutation_p.E202A|PAXIP1_ENST00000473219.1_5'UTR	p.E202A			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	759	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	202					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.605A>C	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	T	9.517	1.107271	0.20714	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	T;T	0.33865	1.39;1.39	5.22	2.88	0.33553	.	0.534254	0.16281	U	0.221350	T	0.26412	0.0645	L	0.50333	1.59	0.22342	N	0.999183	B;B;B;B	0.24823	0.022;0.112;0.063;0.022	B;B;B;B	0.23852	0.01;0.049;0.022;0.01	T	0.33879	-0.9851	10	0.05436	T	0.98	-5.5449	8.8637	0.35274	0.0:0.1534:0.0:0.8466	.	155;111;168;202	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	A	202;202;150;155;160	ENSP00000384048:E202A;ENSP00000380376:E202A	ENSP00000319149:E155A	E	-	2	0	PAXIP1	154398808	1.000000	0.71417	0.004000	0.12327	0.958000	0.62258	2.848000	0.48278	0.327000	0.23409	0.254000	0.18369	GAA		0.438	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		7	54	0	0	0	1	0	7	54				
MST1R	4486	broad.mit.edu	37	3	49924980	49924980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49924980C>T	ENST00000296474.3	-	20	3990	c.3963G>A	c.(3961-3963)caG>caA	p.Q1321Q	MST1R_ENST00000344206.4_Silent_p.Q1272Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCAGCATTGCTGCATCACTT	0.557																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3961-3963)caG>caA		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							74.0	71.0	72.0					3																	49924980		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49924980C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3963G>A	3.37:g.49924980C>T						MST1R_ENST00000344206.4_Silent_p.Q1272Q	p.Q1321Q	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	20	3990	-			1321			Protein kinase.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.3963G>A	CCDS2807.1																																																																																				0.557	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			13	367	0	0	0	1	0	13	367				
FAT2	2196	broad.mit.edu	37	5	150934003	150934003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150934003C>T	ENST00000261800.5	-	4	3877	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1289	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCCTCCTCATCGCTG	0.547																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3865-3867)Gag>Aag		FAT atypical cadherin 2							144.0	123.0	130.0					5																	150934003		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150934003C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3865G>A	5.37:g.150934003C>T	ENSP00000261800:p.Glu1289Lys						p.E1289K	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	3877	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1289			Cadherin 11.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3865G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725474	0.30593	.	.	ENSG00000086570	ENST00000261800	T	0.01705	4.68	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.339974	0.26207	N	0.025707	T	0.02267	0.0070	L	0.35341	1.055	0.37125	D	0.901	B	0.13594	0.008	B	0.19666	0.026	T	0.54768	-0.8244	10	0.10902	T	0.67	.	18.6671	0.91495	0.0:1.0:0.0:0.0	.	1289	Q9NYQ8	FAT2_HUMAN	K	1289	ENSP00000261800:E1289K	ENSP00000261800:E1289K	E	-	1	0	FAT2	150914196	0.271000	0.24162	0.935000	0.37517	0.399000	0.30720	2.378000	0.44309	2.713000	0.92767	0.655000	0.94253	GAG		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		100	396	0	0	0	1	0	100	396				
ZNF671	79891	broad.mit.edu	37	19	58232254	58232254	+	Silent	SNP	G	G	A	rs147122818	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232254G>A	ENST00000317398.6	-	4	1295	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	ZNF671_ENST00000335820.3_Silent_p.S302S|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCCACATTCGCTGCATACAT	0.468													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19052	0.0		0.0	False		,,,				2504	0.001					ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1198-1200)agC>agT		zinc finger protein 671		G		2,4404	4.2+/-10.8	0,2,2201	115.0	92.0	100.0		1200	-3.8	0.0	19	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	ZNF671	NM_024833.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		400/535	58232254	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232254G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1200C>T	19.37:g.58232254G>A						ZNF671_ENST00000335820.3_Silent_p.S302S|AC003006.7_ENST00000599221.1_Intron	p.S400S	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1295	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	400					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.1200C>T	CCDS12961.1																																																																																				0.468	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		7	396	0	0	0	1	0	7	396				
STEAP3	55240	broad.mit.edu	37	2	120005630	120005630	+	Missense_Mutation	SNP	C	C	T	rs374186156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120005630C>T	ENST00000354888.5	+	4	1372	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	290	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGTACCAGCGCTTCCCCGA	0.667																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(868-870)Cgc>Tgc		STEAP family member 3, metalloreductase		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	32.0	31.0	31.0		868,868,898	3.6	0.8	2		31	1,8595		0,1,4297	no	missense,missense,missense	STEAP3	NM_001008410.1,NM_018234.2,NM_182915.2	180,180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	290/489,290/489,300/499	120005630	1,13001	2203	4298	6501	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005630C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.868C>T	2.37:g.120005630C>T	ENSP00000346961:p.Arg290Cys					STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C	p.R290C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1372	+			290			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.868C>T	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276574	0.80580	0.0	1.16E-4	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	4.49	3.61	0.41365	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.993	D	0.94122	0.7380	9	.	.	.	-30.3131	13.0605	0.59003	0.1616:0.8383:0.0:0.0	.	290;300;290	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	290;290;290;300;290;290;290;290	ENSP00000376820:R290C;ENSP00000346961:R290C;ENSP00000396873:R290C;ENSP00000376822:R300C;ENSP00000376818:R290C;ENSP00000386510:R290C;ENSP00000376819:R290C;ENSP00000396214:R290C	.	R	+	1	0	STEAP3	119722100	1.000000	0.71417	0.836000	0.33094	0.963000	0.63663	4.725000	0.61979	1.107000	0.41642	0.462000	0.41574	CGC		0.667	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		11	330	0	0	0	1	0	11	330				
MICALL1	85377	broad.mit.edu	37	22	38308422	38308422	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308422C>A	ENST00000215957.6	+	3	386	c.260C>A	c.(259-261)tCc>tAc	p.S87Y		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	87	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GACATGGTCTCCATGAGCGTC	0.592																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(259-261)tCc>tAc		MICAL-like 1							101.0	87.0	92.0					22																	38308422		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38308422C>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.260C>A	22.37:g.38308422C>A	ENSP00000215957:p.Ser87Tyr						p.S87Y	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			3	386	+	Melanoma(58;0.045)		87			CH.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.260C>A	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000656	0.74818	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	T;D	0.94184	-0.82;-3.37	4.81	3.78	0.43462	Calponin homology domain (5);	0.462106	0.18277	N	0.146127	D	0.95529	0.8547	L	0.58302	1.8	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95483	0.8562	10	0.59425	D	0.04	.	15.5965	0.76587	0.0:0.8619:0.138:0.0	.	87	Q8N3F8	MILK1_HUMAN	Y	3;87	ENSP00000404543:S3Y;ENSP00000215957:S87Y	ENSP00000215957:S87Y	S	+	2	0	MICALL1	36638368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.958000	0.49145	1.387000	0.46486	0.632000	0.83419	TCC		0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		89	332	1	0	1.32003e-40	1	1.60129e-40	89	332				
SMARCD2	6603	broad.mit.edu	37	17	61910761	61910761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910761G>A	ENST00000448276.2	-	11	1602	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F|SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	446					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTTGATGGACTCAATGGT	0.552																																						ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(1336-1338)tCc>tTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							131.0	132.0	131.0					17																	61910761		2062	4231	6293	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61910761G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1337C>T	17.37:g.61910761G>A	ENSP00000392617:p.Ser446Phe					SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F|SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F	p.S446F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			11	1602	-			446					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.1337C>T	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	8.546	0.874368	0.17395	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.46451	0.87;0.88	5.44	5.44	0.79542	.	0.050846	0.85682	D	0.000000	T	0.44201	0.1282	M	0.62016	1.91	0.58432	D	0.999994	B;P;P	0.44521	0.386;0.837;0.837	B;B;B	0.39876	0.053;0.29;0.312	T	0.50642	-0.8804	10	0.72032	D	0.01	-0.0812	16.7916	0.85590	0.0:0.0:1.0:0.0	.	398;409;446	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	F	446;388;409;398	ENSP00000392617:S446F;ENSP00000318451:S398F	ENSP00000225742:S388F	S	-	2	0	SMARCD2	59264493	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.221000	0.72243	2.833000	0.97629	0.650000	0.86243	TCC		0.552	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		90	382	0	0	0	1	0	90	382				
CRY1	1407	broad.mit.edu	37	12	107393758	107393758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107393758G>A	ENST00000008527.5	-	6	1654	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	263					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.R263*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TAAAACAGTCGACATGACAAA	0.338																																						ENST00000008527.5																			1	Substitution - Nonsense(1)	p.R263*(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(787-789)Cga>Tga		cryptochrome 1 (photolyase-like)							67.0	68.0	68.0					12																	107393758		2203	4300	6503	SO:0001587	stop_gained	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393758G>A	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.787C>T	12.37:g.107393758G>A	ENSP00000008527:p.Arg263*						p.R263*	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			6	1654	-			263			FAD-binding.			Nonsense_Mutation	SNP	ENST00000008527.5	37	c.787C>T	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	G	45	11.598548	0.99580	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.82	4.91	0.64330	.	0.056923	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.14	15.7241	0.77740	0.0:0.0:0.8524:0.1475	.	.	.	.	X	263	.	ENSP00000008527:R263X	R	-	1	2	CRY1	105917888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.411000	0.73298	1.387000	0.46486	0.650000	0.86243	CGA		0.338	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		46	235	0	0	0	1	0	46	235				
ENTPD7	57089	broad.mit.edu	37	10	101439486	101439486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101439486C>T	ENST00000370489.4	+	5	580	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	134						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTTAAGGAATCTCTGCAATGG	0.443																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(400-402)atC>atT		ectonucleoside triphosphate diphosphohydrolase 7							119.0	111.0	114.0					10																	101439486		2203	4300	6503	SO:0001819	synonymous_variant	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101439486C>T	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.402C>T	10.37:g.101439486C>T							p.I134I	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	5	580	+		Colorectal(252;0.234)	134					B2RB83|B3KP21|D3DR64	Silent	SNP	ENST00000370489.4	37	c.402C>T	CCDS7480.1																																																																																				0.443	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		11	671	0	0	0	1	0	11	671				
BTN2A1	11120	broad.mit.edu	37	6	26459981	26459981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26459981G>T	ENST00000312541.5	+	3	603	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*|BTN2A1_ENST00000429381.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	119	Ig-like V-type.			E -> G (in Ref. 1; AAC02650/AAC02653). {ECO:0000305}.	lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CACAGCCCAGGAAAACGGCAC	0.547																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(355-357)Gaa>Taa		butyrophilin, subfamily 2, member A1							119.0	90.0	100.0					6																	26459981		2203	4300	6503	SO:0001587	stop_gained	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26459981G>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.355G>T	6.37:g.26459981G>T	ENSP00000312158:p.Glu119*					BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*|BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000312541.5_Nonsense_Mutation_p.E119*	p.E119*			Q7KYR7	BT2A1_HUMAN			3	567	+			119	E -> G (in Ref. 1; AAC02650/AAC02653).		Ig-like V-type.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Nonsense_Mutation	SNP	ENST00000312541.5	37	c.355G>T	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046061	0.55110	.	.	ENSG00000112763	ENST00000312541;ENST00000493173;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.	.	.	3.01	2.13	0.27403	.	0.523957	0.17331	N	0.178112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.2759	0.31873	0.1251:0.0:0.8749:0.0	.	.	.	.	X	119;58;58;119;119;119	.	ENSP00000265424:E119X	E	+	1	0	BTN2A1	26567960	0.997000	0.39634	0.004000	0.12327	0.171000	0.22731	5.379000	0.66196	0.843000	0.35070	0.561000	0.74099	GAA		0.547	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		9	224	1	0	2.52707e-12	1	2.7121e-12	9	224				
ADRA2C	152	broad.mit.edu	37	4	3768871	3768871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768871G>A	ENST00000330055.5	+	1	747	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	180					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTCATCTCGGCCGTCATCTC	0.677																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(538-540)Gcc>Acc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						27.0	28.0	27.0					4																	3768871		2199	4296	6495	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768871G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.538G>A	4.37:g.3768871G>A	ENSP00000386069:p.Ala180Thr					ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	p.A180T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	747	+			180					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.538G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444253	0.83993	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37584	1.19;1.19	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61489	0.2351	M	0.83223	2.63	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.69771	-0.5055	9	0.87932	D	0	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	180;180	D6RGL0;P18825	.;ADA2C_HUMAN	T	180	ENSP00000426268:A180T;ENSP00000386069:A180T	ENSP00000386069:A180T	A	+	1	0	ADRA2C	3738669	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.710000	0.74670	1.706000	0.51276	0.561000	0.74099	GCC		0.677	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		30	121	0	0	0	1	0	30	121				
ERBB2	2064	broad.mit.edu	37	17	37864607	37864607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37864607G>A	ENST00000269571.5	+	3	418	c.259G>A	c.(259-261)Gct>Act	p.A87T	ERBB2_ENST00000406381.2_Missense_Mutation_p.A57T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	87					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGTGCTCATCGCTCACAACCA	0.612		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(169-171)Gct>Act		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						79.0	74.0	76.0					17																	37864607		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37864607G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.259G>A	17.37:g.37864607G>A	ENSP00000269571:p.Ala87Thr	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A87T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T|ERBB2_ENST00000445658.2_Intron	p.A57T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	5	679	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	87					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.169G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750857	0.69533	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.21	5.21	0.72293	EGF receptor, L domain (1);	.	.	.	.	D	0.86871	0.6037	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.936	D	0.87494	0.2429	9	0.87932	D	0	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	57;72;87;87	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	T	57;72;87;57;57	ENSP00000385185:A57T;ENSP00000446466:A72T;ENSP00000269571:A87T;ENSP00000443562:A57T;ENSP00000446382:A57T	ENSP00000269571:A87T	A	+	1	0	ERBB2	35118133	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.448000	0.97600	2.873000	0.98535	0.561000	0.74099	GCT		0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			91	354	0	0	0	1	0	91	354				
LLGL2	3993	broad.mit.edu	37	17	73566533	73566533	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566533G>T	ENST00000392550.3	+	16	2096	c.1979G>T	c.(1978-1980)aGc>aTc	p.S660I	LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I|LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	660					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGCGTCGGAGCCGGGTGTCC	0.692																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1978-1980)aGc>aTc		lethal giant larvae homolog 2 (Drosophila)							21.0	19.0	20.0					17																	73566533		2189	4288	6477	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73566533G>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1979G>T	17.37:g.73566533G>T	ENSP00000376333:p.Ser660Ile					LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I|LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I	p.S660I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		16	2096	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		660					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1979G>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147517	0.37923	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.65364	-0.15;-0.15	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.991;0.999;1.0;1.0;0.999	P;D;D;D;D	0.87578	0.872;0.996;0.998;0.993;0.979	T	0.82030	-0.0659	10	0.62326	D	0.03	-0.551	18.2389	0.89960	0.0:0.0:1.0:0.0	.	287;649;649;660;660	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	I	660;660;649	ENSP00000167462:S660I;ENSP00000376333:S660I	ENSP00000167462:S660I	S	+	2	0	LLGL2	71078128	1.000000	0.71417	0.937000	0.37676	0.141000	0.21300	9.801000	0.99128	2.314000	0.78098	0.549000	0.68633	AGC		0.692	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		10	43	1	0	3.86212e-05	1	3.93988e-05	10	43				
TIAM1	7074	broad.mit.edu	37	21	32537345	32537345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32537345C>T	ENST00000286827.3	-	17	3396	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	TIAM1_ENST00000541036.1_Silent_p.E915E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	975					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGGAGCGGTCTCAGCACTGC	0.512																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2923-2925)gaG>gaA		T-cell lymphoma invasion and metastasis 1							78.0	73.0	75.0					21																	32537345		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32537345C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2925G>A	21.37:g.32537345C>T						TIAM1_ENST00000541036.1_Silent_p.E915E	p.E975E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			17	3396	-			975					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.2925G>A	CCDS13609.1																																																																																				0.512	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		41	197	0	0	0	1	0	41	197				
PCDHGA9	56107	broad.mit.edu	37	5	140783171	140783171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783171G>A	ENST00000573521.1	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGATGGCGGCGAGCCGCG	0.582																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(652-654)Ggc>Agc									26.0	31.0	29.0					5																	140783171		2045	4182	6227	SO:0001583	missense	0							g.chr5:140783171G>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.652G>A	5.37:g.140783171G>A	ENSP00000460274:p.Gly218Ser					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.G218S	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	652	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.652G>A	CCDS58981.1																																																																																				0.582	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		54	242	0	0	0	1	0	54	242				
MGAT5B	146664	broad.mit.edu	37	17	74944060	74944060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74944060C>T	ENST00000569840.2	+	17	2646	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	691					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCTGCGGGCCTGGCTGGCC	0.701																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2071-2073)gCc>gTc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							21.0	22.0	22.0					17																	74944060		2201	4298	6499	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74944060C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.2072C>T	17.37:g.74944060C>T	ENSP00000456037:p.Ala691Val					MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V	p.A691V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			17	2646	+			691					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.2072C>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	C	3.394	-0.123698	0.06795	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.38560	1.14;1.13	4.66	3.66	0.41972	.	0.238298	0.34411	N	0.003988	T	0.10508	0.0257	N	0.01048	-1.04	0.33707	D	0.615329	B;B;B	0.24823	0.018;0.01;0.112	B;B;B	0.22601	0.011;0.007;0.04	T	0.33954	-0.9848	10	0.02654	T	1	-28.8763	4.132	0.10154	0.0:0.4802:0.3008:0.219	.	96;700;689	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	V	689;700	ENSP00000301618:A689V;ENSP00000391227:A700V	ENSP00000301618:A689V	A	+	2	0	MGAT5B	72455655	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	1.601000	0.36773	2.129000	0.65627	0.557000	0.71058	GCC		0.701	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		26	128	0	0	0	1	0	26	128				
ITIH5	80760	broad.mit.edu	37	10	7682770	7682770	+	Missense_Mutation	SNP	C	C	A	rs146396908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682770C>A	ENST00000256861.6	-	4	426	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	116	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CACCACTCTTCTTTTCTCTCT	0.373																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(346-348)aaG>aaT		inter-alpha-trypsin inhibitor heavy chain family, member 5							260.0	252.0	255.0					10																	7682770		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7682770C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.348G>T	10.37:g.7682770C>A	ENSP00000256861:p.Lys116Asn					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N	p.K116N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			4	426	-			116			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.348G>T		.	.	.	.	.	.	.	.	.	.	C	15.82	2.945221	0.53079	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24538	1.85;1.85;1.85	5.71	3.86	0.44501	Vault protein inter-alpha-trypsin (2);	0.364388	0.33253	N	0.005109	T	0.40743	0.1129	.	.	.	0.42723	D	0.993683	P;D	0.60575	0.956;0.988	P;P	0.55785	0.637;0.784	T	0.31558	-0.9939	9	0.66056	D	0.02	-27.732	10.2142	0.43158	0.0:0.8446:0.0:0.1554	.	116;116	G5E9D8;Q86UX2	.;ITIH5_HUMAN	N	116	ENSP00000256861:K116N;ENSP00000380333:K116N;ENSP00000380332:K116N	ENSP00000256861:K116N	K	-	3	2	ITIH5	7722776	1.000000	0.71417	0.358000	0.25811	0.384000	0.30261	1.835000	0.39181	0.751000	0.32900	0.563000	0.77884	AAG		0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		90	615	1	0	1.16068e-44	1	1.42057e-44	90	615				
WDR7	23335	broad.mit.edu	37	18	54385226	54385226	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54385226C>T	ENST00000254442.3	+	13	1821	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	WDR7_ENST00000357574.3_Missense_Mutation_p.A537V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	537					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCTCTGTAGCCAGTGACCAC	0.363																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1609-1611)gCc>gTc		WD repeat domain 7							132.0	121.0	125.0					18																	54385226		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54385226C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1610C>T	18.37:g.54385226C>T	ENSP00000254442:p.Ala537Val					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A537V	p.A537V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	13	1821	+			537					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1610C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806809	0.90623	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.69306	-0.39;-0.37	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.76002	2.32	0.80722	D	1	P;P	0.44946	0.846;0.813	B;B	0.43783	0.431;0.357	T	0.75508	-0.3293	10	0.72032	D	0.01	.	14.7507	0.69522	0.0:0.8555:0.1445:0.0	.	537;537	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	537	ENSP00000254442:A537V;ENSP00000350187:A537V	ENSP00000254442:A537V	A	+	2	0	WDR7	52536224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.909000	0.69923	2.632000	0.89209	0.655000	0.94253	GCC		0.363	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			107	485	0	0	0	1	0	107	485				
DHFR	1719	broad.mit.edu	37	5	79945254	79945254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79945254G>A	ENST00000439211.2	-	3	689	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	66	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTTAAAGGTCGATTCTTCTCA	0.348																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(196-198)Cga>Tga		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						74.0	73.0	74.0					5																	79945254		2103	4258	6361	SO:0001587	stop_gained	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79945254G>A		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.196C>T	5.37:g.79945254G>A	ENSP00000396308:p.Arg66*					DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000513048.1_5'UTR	p.R66*	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	3	689	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	66			DHFR.		B4DDD2|Q14130|Q6IRW8	Nonsense_Mutation	SNP	ENST00000439211.2	37	c.196C>T	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472449	0.96274	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	.	.	.	5.41	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.8828	11.9172	0.52771	0.0:0.0:0.6481:0.3519	.	.	.	.	X	66;66;66;14	.	.	R	-	1	2	DHFR	79981010	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.417000	0.44653	1.209000	0.43321	0.557000	0.71058	CGA		0.348	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		61	270	0	0	0	1	0	61	270				
KIT	3815	broad.mit.edu	37	4	55569916	55569916	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55569916C>A	ENST00000288135.5	+	5	880	c.783C>A	c.(781-783)agC>agA	p.S261R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	261	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATATAATAGCTGGCATCACG	0.343		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(781-783)agC>agA		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	85.0	84.0					4																	55569916		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55569916C>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.783C>A	4.37:g.55569916C>A	ENSP00000288135:p.Ser261Arg						p.S261R	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	5	880	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		261			Ig-like C2-type 3.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.783C>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893441	0.52121	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.21031	2.03;2.03	5.24	4.41	0.53225	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.076622	0.56097	D	0.000031	T	0.41834	0.1176	M	0.68952	2.095	0.41590	D	0.988792	P;D	0.76494	0.807;0.999	B;D	0.74348	0.206;0.983	T	0.26121	-1.0112	10	0.40728	T	0.16	.	12.3268	0.55015	0.0:0.9225:0.0:0.0775	.	261;261	P10721-2;P10721	.;KIT_HUMAN	R	261	ENSP00000288135:S261R;ENSP00000390987:S261R	ENSP00000288135:S261R	S	+	3	2	KIT	55264673	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.267000	0.43329	1.468000	0.48064	0.650000	0.86243	AGC		0.343	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			33	249	1	0	1.39649e-27	1	1.61833e-27	33	249				
PLIN4	729359	broad.mit.edu	37	19	4510584	4510584	+	Missense_Mutation	SNP	C	C	A	rs371086662		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510584C>A	ENST00000301286.3	-	3	3345	c.3346G>T	c.(3346-3348)Ggc>Tgc	p.G1116C		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1116						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTCCCTGCCTGGGGCGGCC	0.657																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(3346-3348)Ggc>Tgc		perilipin 4							31.0	36.0	34.0					19																	4510584		2133	4232	6365	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4510584C>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3346G>T	19.37:g.4510584C>A	ENSP00000301286:p.Gly1116Cys						p.G1116C	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	3345	-			1116					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.3346G>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817730	0.32145	.	.	ENSG00000167676	ENST00000301286	T	0.04706	3.57	3.85	-0.00379	0.14024	.	1.488490	0.04874	N	0.446490	T	0.09730	0.0239	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.34976	-0.9807	10	0.72032	D	0.01	-5.4226	5.6695	0.17715	0.4127:0.401:0.1863:0.0	.	1116	Q96Q06	PLIN4_HUMAN	C	1116	ENSP00000301286:G1116C	ENSP00000301286:G1116C	G	-	1	0	PLIN4	4461584	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	0.117000	0.18138	-0.295000	0.09555	GGC		0.657	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		22	92	1	0	1.96292e-10	1	2.08093e-10	22	92				
KRTAP4-8	728224	broad.mit.edu	37	17	39254083	39254083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39254083C>T	ENST00000333822.4	-	1	310	c.254G>A	c.(253-255)tGc>tAc	p.C85Y		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	85	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GGTGGGCTGGCAGCACACAGA	0.667																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(253-255)tGc>tAc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254083		682	1566	2248	SO:0001583	missense	728224					keratin filament		g.chr17:39254083C>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.254G>A	17.37:g.39254083C>T	ENSP00000328444:p.Cys85Tyr						p.C85Y	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	310	-			85			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.254G>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.25	2.776834	0.49786	.	.	ENSG00000204880	ENST00000333822	T	0.03242	4.0	2.17	1.09	0.20402	.	.	.	.	.	T	0.16854	0.0405	M	0.89478	3.035	0.22701	N	0.99884	D	0.71674	0.998	D	0.67231	0.95	T	0.04165	-1.0972	9	0.72032	D	0.01	.	6.753	0.23497	0.0:0.7034:0.2966:0.0	.	85	Q9BYQ9	KRA48_HUMAN	Y	85	ENSP00000328444:C85Y	ENSP00000328444:C85Y	C	-	2	0	KRTAP4-8	36507609	0.200000	0.23398	0.023000	0.16930	0.948000	0.59901	0.814000	0.27239	0.033000	0.15463	0.383000	0.25322	TGC		0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		8	346	0	0	0	1	0	8	346				
CHN2	1124	broad.mit.edu	37	7	29552224	29552224	+	Missense_Mutation	SNP	T	T	G	rs374654158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29552224T>G	ENST00000222792.6	+	13	1810	c.1280T>G	c.(1279-1281)cTg>cGg	p.L427R	AC007255.8_ENST00000450540.2_RNA|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R|CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R|CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000435288.2_Missense_Mutation_p.L151R|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCAGAAAATCTGGGGATCGTG	0.428																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(1279-1281)cTg>cGg		chimerin 2							91.0	93.0	92.0					7																	29552224		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552224T>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1280T>G	7.37:g.29552224T>G	ENSP00000222792:p.Leu427Arg					CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R|CHN2_ENST00000435288.2_Missense_Mutation_p.L151R	p.L427R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			13	1810	+			427			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1280T>G	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149759	0.78001	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.57907	0.51;0.51;0.37;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.068865	0.64402	D	0.000011	D	0.84188	0.5417	H	0.99312	4.51	0.80722	D	1	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.763;1.0;1.0;1.0;1.0;1.0;0.998;1.0;0.998	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.917;0.918;0.992;0.582;0.998;0.999;0.998;0.999;0.998;0.917;0.992;0.917	D	0.90959	0.4811	10	0.87932	D	0	.	15.4009	0.74841	0.0:0.0:0.0:1.0	.	220;412;440;502;246;200;219;187;245;233;283;427;291;427	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	R	502;427;151;440;283;412;291;246;245;233	ENSP00000444063:L502R;ENSP00000222792:L427R;ENSP00000400282:L151R;ENSP00000438587:L440R;ENSP00000440526:L283R;ENSP00000442812:L412R;ENSP00000386849:L291R;ENSP00000406337:L246R;ENSP00000387425:L245R;ENSP00000394284:L233R	ENSP00000222792:L427R	L	+	2	0	CHN2	29518749	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.997000	0.88414	2.179000	0.69175	0.528000	0.53228	CTG		0.428	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		73	300	0	0	0	1	0	73	300				
GLIS3	169792	broad.mit.edu	37	9	4286138	4286138	+	Silent	SNP	C	C	T	rs371790247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4286138C>T	ENST00000381971.3	-	2	881	c.288G>A	c.(286-288)ccG>ccA	p.P96P		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	328	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTGGAATCGCGGCTTCCCAT	0.557																																						ENST00000381971.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(286-288)ccG>ccA		GLIS family zinc finger 3		C		0,3996		0,0,1998	83.0	85.0	84.0		288	-2.1	1.0	9		84	1,8325		0,1,4162	no	coding-synonymous	GLIS3	NM_001042413.1		0,1,6160	TT,TC,CC		0.012,0.0,0.0081		96/931	4286138	1,12321	1998	4163	6161	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4286138C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.288G>A	9.37:g.4286138C>T							p.P96P	NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	2	881	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	328			Ser-rich.		B1AL19|Q1PHK5	Silent	SNP	ENST00000381971.3	37	c.288G>A	CCDS43784.1																																																																																				0.557	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		79	471	0	0	0	1	0	79	471				
MYOZ2	51778	broad.mit.edu	37	4	120085546	120085546	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120085546A>G	ENST00000307128.5	+	5	770	c.557A>G	c.(556-558)aAc>aGc	p.N186S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAGCTTTAACAGGTAATTC	0.398																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(556-558)aAc>aGc		myozenin 2							51.0	51.0	51.0					4																	120085546		2201	4300	6501	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120085546A>G	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.557A>G	4.37:g.120085546A>G	ENSP00000306997:p.Asn186Ser						p.N186S	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			5	770	+			186	N -> T (in Ref. 1; AAG13932).					Missense_Mutation	SNP	ENST00000307128.5	37	c.557A>G	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595357	0.86953	.	.	ENSG00000172399	ENST00000307128	T	0.80480	-1.38	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92076	0.5668	10	0.87932	D	0	-26.911	16.4277	0.83824	1.0:0.0:0.0:0.0	.	186	Q9NPC6	MYOZ2_HUMAN	S	186	ENSP00000306997:N186S	ENSP00000306997:N186S	N	+	2	0	MYOZ2	120304994	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.781000	0.91805	2.279000	0.76181	0.533000	0.62120	AAC		0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			6	229	0	0	0	1	0	6	229				
JAK3	3718	broad.mit.edu	37	19	17946822	17946822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17946822C>A	ENST00000527670.1	-	13	1854	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y|JAK3_ENST00000458235.1_Missense_Mutation_p.D609Y|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	609	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGATACATGTCTATGGCCCCC	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1825-1827)Gac>Tac		Janus kinase 3							104.0	93.0	97.0					19																	17946822		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17946822C>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1825G>T	19.37:g.17946822C>A	ENSP00000432511:p.Asp609Tyr					JAK3_ENST00000527670.1_Missense_Mutation_p.D609Y|JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y	p.D609Y	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			14	1924	-			609			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1825G>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852453	0.51270	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.62105	0.05;0.05;0.05	4.96	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.83983	0.0333	10	0.87932	D	0	-38.7413	15.7013	0.77544	0.0:1.0:0.0:0.0	.	609;609	P52333-2;P52333	.;JAK3_HUMAN	Y	609	ENSP00000391676:D609Y;ENSP00000432511:D609Y;ENSP00000436421:D609Y	ENSP00000391676:D609Y	D	-	1	0	JAK3	17807822	1.000000	0.71417	0.721000	0.30653	0.031000	0.12232	7.320000	0.79064	2.294000	0.77228	0.455000	0.32223	GAC		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		83	313	1	0	7.63117e-38	1	9.17446e-38	83	313				
STXBP5	134957	broad.mit.edu	37	6	147632647	147632647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147632647G>A	ENST00000321680.6	+	11	1129	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N|STXBP5_ENST00000367481.3_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	377					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGTACTTATAGACCTTGCACA	0.313																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1129-1131)Gac>Aac		syntaxin binding protein 5 (tomosyn)							124.0	126.0	125.0					6																	147632647		2203	4299	6502	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147632647G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1129G>A	6.37:g.147632647G>A	ENSP00000321826:p.Asp377Asn					STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N|STXBP5_ENST00000321680.6_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N	p.D377N	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	11	1237	+		Ovarian(120;0.0164)	377					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1129G>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284916	0.95517	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.27890	2.51;2.51;2.03;1.64	5.64	5.64	0.86602	WD40 repeat-like-containing domain (2);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.961;0.99;0.996	T	0.66999	-0.5781	10	0.87932	D	0	.	19.6979	0.96034	0.0:0.0:1.0:0.0	.	377;377;48	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	N	377;377;377;48	ENSP00000356451:D377N;ENSP00000321826:D377N;ENSP00000356450:D377N;ENSP00000179882:D48N	ENSP00000179882:D48N	D	+	1	0	STXBP5	147674340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.660000	0.90430	0.561000	0.74099	GAC		0.313	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			31	161	0	0	0	1	0	31	161				
GRM7	2917	broad.mit.edu	37	3	7620460	7620460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620460G>T	ENST00000357716.4	+	8	2141	c.1867G>T	c.(1867-1869)Gca>Tca	p.A623S	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Missense_Mutation_p.A623S|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S|GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	623					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						CATTGTCCGGGCATCTGGGCG	0.502																																						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.(1867-1869)Gca>Tca		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						121.0	125.0	124.0					3																	7620460		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.chr3:7620460G>T	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.1867G>T	3.37:g.7620460G>T	ENSP00000350348:p.Ala623Ser					GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S|GRM7_ENST00000357716.4_Missense_Mutation_p.A623S|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S|GRM7_ENST00000458641.2_3'UTR	p.A623S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2141	+			623					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1867G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076362	0.76415	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94361	0.8187	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.99;0.999;0.992;1.0	D;D;D;D;D	0.97110	0.992;0.98;0.996;0.989;1.0	D	0.93418	0.6774	10	0.46703	T	0.11	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	623;623;378;623;623	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	S	623	ENSP00000350348:A623S;ENSP00000417536:A623S;ENSP00000373987:A623S;ENSP00000385664:A623S;ENSP00000384585:A623S	ENSP00000350348:A623S	A	+	1	0	GRM7	7595460	1.000000	0.71417	0.988000	0.46212	0.462000	0.32619	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GCA		0.502	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		66	673	1	0	9.39563e-20	1	1.04965e-19	66	673				
TNFSF11	8600	broad.mit.edu	37	13	43148613	43148613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43148613C>T	ENST00000239849.6	+	1	325	c.174C>T	c.(172-174)ggC>ggT	p.G58G	TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000544862.1_5'UTR|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000398795.2_5'UTR			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	58					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TGGGGCTGGGCCAGGTTGTCT	0.721																																						ENST00000239849.6																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(172-174)ggC>ggT		tumor necrosis factor (ligand) superfamily, member 11							15.0	17.0	16.0					13																	43148613		1825	3472	5297	SO:0001819	synonymous_variant	0				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43148613C>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.174C>T	13.37:g.43148613C>T						TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000544862.1_5'UTR	p.G58G			O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	1	325	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	58					O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	c.174C>T	CCDS9384.1																																																																																				0.721	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			22	98	0	0	0	1	0	22	98				
SFT2D2	375035	broad.mit.edu	37	1	168205957	168205957	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168205957A>G	ENST00000271375.4	+	6	434	c.362A>G	c.(361-363)aAc>aGc	p.N121S	SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					CAGTGGCATAACAAGGGACTT	0.368																																						ENST00000271375.3																			0				lung(3)|skin(1)	4						c.(361-363)aAc>aGc		SFT2 domain containing 2							241.0	237.0	238.0					1																	168205957		2203	4300	6503	SO:0001583	missense	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168205957A>G	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.362A>G	1.37:g.168205957A>G	ENSP00000271375:p.Asn121Ser					SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A	p.N121S	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN			6	434	+	all_hematologic(923;0.215)		121						Missense_Mutation	SNP	ENST00000271375.4	37	c.362A>G	CCDS1271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.30|16.30	3.083832|3.083832	0.55861|0.55861	.|.	.|.	ENSG00000213064|ENSG00000213064	ENST00000271375|ENST00000367829;ENST00000367825	T|.	0.35789|.	1.29|.	5.18|5.18	4.04|4.04	0.47022|0.47022	.|.	0.168207|.	0.49916|.	U|.	0.000130|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.16166|0.16166	0.38|0.38	0.09310|.	N|.	0.999993|.	B|.	0.13594|.	0.008|.	B|.	0.18871|.	0.023|.	T|T	0.08638|0.08638	-1.0712|-1.0712	9|5	0.02654|0.56958	T|D	1|0.05	-8.6714|-8.6714	9.2735|9.2735	0.37686|0.37686	0.8392:0.0:0.0:0.1608|0.8392:0.0:0.0:0.1608	.|.	121|.	O95562|.	SFT2B_HUMAN|.	S|A	121|94	ENSP00000271375:N121S|.	ENSP00000271375:N121S|ENSP00000356799:T94A	N|T	+|+	2|1	0|0	SFT2D2|SFT2D2	166472581|166472581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.508000|5.508000	0.67006|0.67006	0.790000|0.790000	0.33803|0.33803	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.368	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		95	1187	0	0	0	1	0	95	1187				
PCNT	5116	broad.mit.edu	37	21	47851912	47851912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851912C>T	ENST00000359568.5	+	38	8641	c.8534C>T	c.(8533-8535)tCg>tTg	p.S2845L	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2845					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACACTGAAGTCGACGGTGGAA	0.562																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8533-8535)tCg>tTg		pericentrin							81.0	69.0	73.0					21																	47851912		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851912C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8534C>T	21.37:g.47851912C>T	ENSP00000352572:p.Ser2845Leu					PCNT_ENST00000480896.1_Intron	p.S2845L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8641	+	Breast(49;0.112)		2845					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8534C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625869	0.28889	.	.	ENSG00000160299	ENST00000359568	T	0.01527	4.8	4.7	1.88	0.25563	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47824	-0.9087	9	0.31617	T	0.26	.	9.2226	0.37386	0.0:0.692:0.0:0.308	.	2845	O95613	PCNT_HUMAN	L	2845	ENSP00000352572:S2845L	ENSP00000352572:S2845L	S	+	2	0	PCNT	46676340	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.510000	0.22723	0.171000	0.19730	0.655000	0.94253	TCG		0.562	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		21	201	0	0	0	1	0	21	201				
MGEA5	10724	broad.mit.edu	37	10	103567613	103567613	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103567613T>C	ENST00000361464.3	-	5	921	c.526A>G	c.(526-528)Ata>Gta	p.I176V	MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V|MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	176					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTATGGTCTATATCATCAAAA	0.353																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(526-528)Ata>Gta		meningioma expressed antigen 5 (hyaluronidase)							139.0	145.0	143.0					10																	103567613		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103567613T>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.526A>G	10.37:g.103567613T>C	ENSP00000354850:p.Ile176Val					MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V|MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V	p.I176V	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	5	921	-		Colorectal(252;0.207)	176					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.526A>G	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369227	0.82463	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.41758	1.1;1.03;1.13;0.99	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.997;0.998	D;D;D;D	0.70935	0.923;0.921;0.966;0.971	T	0.66618	-0.5878	10	0.87932	D	0	-19.0523	15.6177	0.76780	0.0:0.0:0.0:1.0	.	176;176;176;176	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	V	176;176;176;176;124	ENSP00000409973:I176V;ENSP00000354850:I176V;ENSP00000350445:I176V;ENSP00000359112:I176V	ENSP00000350445:I176V	I	-	1	0	MGEA5	103557603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.156000	0.67533	0.477000	0.44152	ATA		0.353	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		144	626	0	0	0	1	0	144	626				
CASP8AP2	9994	broad.mit.edu	37	6	90573238	90573238	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90573238G>A	ENST00000551025.1	+	0	3247									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAAAACAGTGGCATATGTTCC	0.423																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							42.0	41.0	41.0					6																	90573238		1931	4131	6062			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90573238G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573238G>A										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	3247	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.423	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		10	40	0	0	0	1	0	10	40				
PLA2G12A	81579	broad.mit.edu	37	4	110639872	110639872	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110639872C>T	ENST00000243501.5	-	2	519	c.252G>A	c.(250-252)ccG>ccA	p.P84P	PLA2G12A_ENST00000502772.1_5'UTR|PLA2G12A_ENST00000502283.1_Silent_p.P84P	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	84					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CACATCCATTCGGTGGGGAGG	0.299																																						ENST00000243501.5																			0				kidney(1)|lung(1)|ovary(1)|skin(1)	4						c.(250-252)ccG>ccA		phospholipase A2, group XIIA							64.0	61.0	62.0					4																	110639872		2203	4300	6503	SO:0001819	synonymous_variant	81579				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr4:110639872C>T		CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"""phospholipase A2, group XII"""	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.252G>A	4.37:g.110639872C>T						PLA2G12A_ENST00000502772.1_5'UTR|PLA2G12A_ENST00000502283.1_Silent_p.P84P	p.P84P	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000268)	2	519	-			84					Q9BZ89	Silent	SNP	ENST00000243501.5	37	c.252G>A	CCDS3686.1																																																																																				0.299	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254868.3			34	159	0	0	0	1	0	34	159				
SVEP1	79987	broad.mit.edu	37	9	113194818	113194818	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113194818G>T	ENST00000401783.2	-	31	5493	c.5157C>A	c.(5155-5157)ggC>ggA	p.G1719G	SVEP1_ENST00000374469.1_Silent_p.G1696G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1719	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATAGATAGTAGCCATTGTTGC	0.493																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5155-5157)ggC>ggA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							143.0	140.0	141.0					9																	113194818		1964	4150	6114	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194818G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5157C>A	9.37:g.113194818G>T						SVEP1_ENST00000374469.1_Silent_p.G1696G	p.G1719G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			31	5493	-			1719			Sushi 6.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.5157C>A	CCDS48004.1																																																																																				0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				96	426	1	0	2.01383e-38	1	2.42724e-38	96	426				
ARMC6	93436	broad.mit.edu	37	19	19166187	19166187	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166187G>T	ENST00000535612.1	+	7	1569	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	379					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTATGACCCAGCATCTGACCA	0.587																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1135-1137)caG>caT		armadillo repeat containing 6							90.0	71.0	77.0					19																	19166187		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19166187G>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1137G>T	19.37:g.19166187G>T	ENSP00000444156:p.Gln379His					ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H	p.Q379H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		7	1569	+			379					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.1137G>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.215|9.215	1.031972|1.031972	0.19590|0.19590	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535478;ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.30714	.|1.53;1.52;1.53;1.53;1.52	4.88|4.88	1.1|1.1	0.20463|0.20463	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.458981	.|0.21457	.|N	.|0.074236	T|T	0.12902|0.12902	0.0313|0.0313	N|N	0.12182|0.12182	0.205|0.205	0.31551|0.31551	N|N	0.658778|0.658778	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.05869|0.05869	-1.0859|-1.0859	5|10	.|0.37606	.|T	.|0.19	-12.8714|-12.8714	2.6774|2.6774	0.05084|0.05084	0.1647:0.3823:0.3175:0.1356|0.1647:0.3823:0.3175:0.1356	.|.	.|379	.|Q6NXE6	.|ARMC6_HUMAN	S|H	69;43|354;379;354;286;290;379	.|ENSP00000376147:Q354H;ENSP00000444156:Q379H;ENSP00000269932:Q354H;ENSP00000444341:Q286H;ENSP00000376148:Q379H	.|ENSP00000269932:Q354H	A|Q	+|+	1|3	0|2	ARMC6|ARMC6	19027187|19027187	0.028000|0.028000	0.19301|0.19301	0.991000|0.991000	0.47740|0.47740	0.340000|0.340000	0.28889|0.28889	-0.470000|-0.470000	0.06639|0.06639	0.994000|0.994000	0.38892|0.38892	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.587	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		64	251	1	0	1.02487e-32	1	1.21166e-32	64	251				
TPM3P9	147804	broad.mit.edu	37	19	53945280	53945280	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53945280G>A	ENST00000424846.3	+	0	277				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		TGAACGGTAGGATCCAGCTGG	0.577																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945280G>A			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945280G>A						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.577	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		13	50	0	0	0	1	0	13	50				
FRG1B	284802	broad.mit.edu	37	20	29628320	29628320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29628320G>T	ENST00000278882.3	+	6	702	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	108										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(322-324)Gaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628320G>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.322G>T	20.37:g.29628320G>T	ENSP00000278882:p.Glu108*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*	p.E108*							6	702	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.322G>T		.	.	.	.	.	.	.	.	.	.	g	21.0	4.076413	0.76415	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	.	.	.	X	108;113;108	.	ENSP00000278882:E108X	E	+	1	0	FRG1B	28241981	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	6.601000	0.74136	1.475000	0.48197	0.423000	0.28283	GAA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	415	1	0	2.5808e-16	1	2.83451e-16	10	415				
SIGLEC7	27036	broad.mit.edu	37	19	51647836	51647836	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51647836A>G	ENST00000317643.6	+	2	676	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	203	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAGTGCTCACCCTCATCCC	0.657																																						ENST00000317643.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29						c.(607-609)Acc>Gcc		sialic acid binding Ig-like lectin 7							62.0	61.0	62.0					19																	51647836		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647836A>G	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.607A>G	19.37:g.51647836A>G	ENSP00000323328:p.Thr203Ala					SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	p.T203A	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	676	+		all_neural(266;0.0199)	203			Ig-like C2-type 1.		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.607A>G	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.311986	0.23821	.	.	ENSG00000168995	ENST00000317643	T	0.03635	3.86	2.9	1.73	0.24493	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208382	0.24542	N	0.037621	T	0.09468	0.0233	M	0.88979	2.995	0.21220	N	0.999752	P	0.43352	0.804	P	0.47134	0.539	T	0.05386	-1.0888	10	0.42905	T	0.14	.	4.7918	0.13252	0.7228:0.0:0.0:0.2772	.	203	Q9Y286	SIGL7_HUMAN	A	203	ENSP00000323328:T203A	ENSP00000323328:T203A	T	+	1	0	SIGLEC7	56339648	0.006000	0.16342	0.444000	0.26895	0.012000	0.07955	0.237000	0.17985	1.360000	0.45960	0.432000	0.28606	ACC		0.657	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		39	501	0	0	0	1	0	39	501				
AHCTF1	25909	broad.mit.edu	37	1	247013648	247013648	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013648A>C	ENST00000391829.2	-	33	5783	c.5660T>G	c.(5659-5661)aTt>aGt	p.I1887S	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.I1922S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1887	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTTATAATTTCAACACT	0.299																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5764-5766)aTt>aGt		AT hook containing transcription factor 1							47.0	50.0	49.0					1																	247013648		2188	4284	6472	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013648A>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5660T>G	1.37:g.247013648A>C	ENSP00000375705:p.Ile1887Ser					AHCTF1_ENST00000391829.2_Missense_Mutation_p.I1887S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S	p.I1922S			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5901	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1887			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5765T>G		.	.	.	.	.	.	.	.	.	.	A	4.158	0.027809	0.08054	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32023	1.47;1.48;1.48	5.51	4.38	0.52667	.	0.533640	0.19487	N	0.113088	T	0.19366	0.0465	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28850	0.225;0.029;0.017	B;B;B	0.30316	0.114;0.009;0.004	T	0.25984	-1.0116	10	0.08381	T	0.77	-8.8873	5.734	0.18057	0.7059:0.1436:0.1505:0.0	.	748;1922;1887	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	S	1922;1896;1887	ENSP00000355464:I1922S;ENSP00000355465:I1896S;ENSP00000375705:I1887S	ENSP00000355465:I1896S	I	-	2	0	AHCTF1	245080271	0.000000	0.05858	0.691000	0.30163	0.930000	0.56654	0.611000	0.24268	1.018000	0.39521	0.533000	0.62120	ATT		0.299	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		107	259	0	0	0	1	0	107	259				
BMP1	649	broad.mit.edu	37	8	22021513	22021513	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22021513G>A	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000318561.3_Missense_Mutation_p.V185M|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000521315.1_Missense_Mutation_p.V179M|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000524255.1_Missense_Mutation_p.V132M|SFTPC_ENST00000437090.2_3'UTR|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGGCATGGCCGTGAGCACCCT	0.682																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(535-537)Gtg>Atg		surfactant protein C							44.0	53.0	50.0					8																	22021513		2044	4179	6223	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22021513G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021513G>A	Exception_encountered					SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000318561.3_Missense_Mutation_p.V185M|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000524255.1_Missense_Mutation_p.V132M	p.V179M			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	567	+			185			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.535G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738685	0.30774	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000524255	D;D;D	0.81739	-1.53;-1.53;-1.53	5.5	-2.12	0.07165	BRICHOS (2);	0.969423	0.08458	N	0.942799	T	0.60418	0.2267	L	0.35288	1.05	0.19575	N	0.999963	B;P	0.34800	0.141;0.469	B;B	0.21708	0.036;0.036	T	0.50303	-0.8844	10	0.41790	T	0.15	-20.3838	0.8375	0.01142	0.3083:0.3001:0.2394:0.1522	.	179;185	E9PGX3;P11686	.;PSPC_HUMAN	M	185;179;132	ENSP00000316152:V185M;ENSP00000430410:V179M;ENSP00000429552:V132M	ENSP00000316152:V185M	V	+	1	0	SFTPC	22077458	0.000000	0.05858	0.026000	0.17262	0.897000	0.52465	-0.533000	0.06157	-0.254000	0.09500	0.650000	0.86243	GTG		0.682	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		71	329	0	0	0	1	0	71	329				
RAB40C	57799	broad.mit.edu	37	16	677435	677435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:677435G>A	ENST00000248139.3	+	6	862	c.659G>A	c.(658-660)aGc>aAc	p.S220N	RAB40C_ENST00000535977.1_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N|RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	220	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ACCATCAAGAGCCACCTCAAG	0.657																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(658-660)aGc>aAc		RAB40C, member RAS oncogene family							176.0	146.0	157.0					16																	677435		2201	4300	6501	SO:0001583	missense	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677435G>A	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.659G>A	16.37:g.677435G>A	ENSP00000248139:p.Ser220Asn					RAB40C_ENST00000248139.3_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N|RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N	p.S220N	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			7	881	+		Hepatocellular(780;0.0218)	220			SOCS box.		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	c.659G>A	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145907	0.94603	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.17	4.21	0.49690	SOCS protein, C-terminal (4);	0.264812	0.41823	N	0.000801	T	0.57621	0.2066	M	0.62723	1.935	0.58432	D	0.999996	D;D	0.57571	0.98;0.98	P;P	0.62740	0.906;0.906	T	0.61227	-0.7105	10	0.87932	D	0	.	12.3215	0.54987	0.0817:0.0:0.9183:0.0	.	220;201	Q96S21;Q5PXE8	RB40C_HUMAN;.	N	220	ENSP00000438492:S220N;ENSP00000445050:S220N;ENSP00000438382:S220N;ENSP00000248139:S220N	ENSP00000248139:S220N	S	+	2	0	RAB40C	617436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	1.169000	0.42739	0.561000	0.74099	AGC		0.657	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		123	646	0	0	0	1	0	123	646				
PTPN12	5782	broad.mit.edu	37	7	77166902	77166902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77166902G>A	ENST00000248594.6	+	1	311	c.39G>A	c.(37-39)agG>agA	p.R13R	PTPN12_ENST00000415482.2_5'Flank|PTPN12_ENST00000435495.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	13					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCATCCAGAGGGTCCAGGCCA	0.667																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(37-39)agG>agA		protein tyrosine phosphatase, non-receptor type 12							46.0	41.0	43.0					7																	77166902		2203	4300	6503	SO:0001819	synonymous_variant	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77166902G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.39G>A	7.37:g.77166902G>A							p.R13R	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			1	311	+			13					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	37	c.39G>A	CCDS5592.1																																																																																				0.667	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			14	71	0	0	0	1	0	14	71				
LAMA2	3908	broad.mit.edu	37	6	129511410	129511410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129511410G>A	ENST00000421865.2	+	11	1577	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	510	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTGCAAGAGGATAATTGGAA	0.433																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(1528-1530)Gat>Aat		laminin, alpha 2							131.0	129.0	129.0					6																	129511410		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129511410G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1528G>A	6.37:g.129511410G>A	ENSP00000400365:p.Asp510Asn						p.D510N	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	11	1577	+			510			Laminin EGF-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1528G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023845	0.19433	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61859	0.07	5.79	2.64	0.31445	EGF-like, laminin (4);	0.619591	0.16364	N	0.217639	T	0.13756	0.0333	N	0.04805	-0.155	0.27801	N	0.942499	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.28267	-1.0049	10	0.13108	T	0.6	.	11.4699	0.50261	0.2851:0.0:0.7149:0.0	.	510;510	A6NF00;P24043	.;LAMA2_HUMAN	N	510	ENSP00000400365:D510N	ENSP00000346769:D510N	D	+	1	0	LAMA2	129553103	1.000000	0.71417	0.906000	0.35671	0.980000	0.70556	1.345000	0.33953	0.805000	0.34159	-0.136000	0.14681	GAT		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			46	242	0	0	0	1	0	46	242				
NOS3	4846	broad.mit.edu	37	7	150696386	150696386	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696386C>T	ENST00000484524.1	+	8	1065	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	NOS3_ENST00000461406.1_Silent_p.G149G|NOS3_ENST00000467517.1_Silent_p.G355G|NOS3_ENST00000297494.3_Silent_p.G355G	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCAGTGGCTGGTACATGA	0.642																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1063-1065)ggC>ggT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						90.0	95.0	93.0					7																	150696386		2201	4293	6494	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150696386C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1065C>T	7.37:g.150696386C>T						NOS3_ENST00000467517.1_Silent_p.G355G|NOS3_ENST00000461406.1_Silent_p.G149G|NOS3_ENST00000484524.1_Silent_p.G355G	p.G355G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1422	+	all_neural(206;0.219)		355			Interaction with NOSIP.		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1065C>T	CCDS55182.1																																																																																				0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		111	696	0	0	0	1	0	111	696				
RNF169	254225	broad.mit.edu	37	11	74545772	74545772	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74545772G>T	ENST00000299563.4	+	5	907	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	298					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACAGCCCAGGAAAGAGCGA	0.478																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(892-894)caG>caT		ring finger protein 169							90.0	96.0	94.0					11																	74545772		2031	4204	6235	SO:0001583	missense	254225						zinc ion binding	g.chr11:74545772G>T	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.894G>T	11.37:g.74545772G>T	ENSP00000299563:p.Gln298His						p.Q298H	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN			5	907	+			298					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.894G>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636237	0.67130	.	.	ENSG00000166439	ENST00000299563	T	0.50001	0.76	5.86	-0.421	0.12332	.	0.363893	0.35040	N	0.003491	T	0.58736	0.2143	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.56498	-0.7969	10	0.66056	D	0.02	-2.5919	5.2435	0.15485	0.454:0.0:0.4111:0.1349	.	298	Q8NCN4	RN169_HUMAN	H	298	ENSP00000299563:Q298H	ENSP00000299563:Q298H	Q	+	3	2	RNF169	74223420	0.994000	0.37717	0.989000	0.46669	0.965000	0.64279	0.144000	0.16135	-0.030000	0.13804	-0.145000	0.13849	CAG		0.478	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		14	174	1	0	2.32078e-09	1	2.442e-09	14	174				
MFF	56947	broad.mit.edu	37	2	228197205	228197205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228197205C>T	ENST00000353339.3	+	5	771	c.330C>T	c.(328-330)ccC>ccT	p.P110P	MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409565.1_Silent_p.P84P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	110					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(328-330)ccC>ccT		mitochondrial fission factor							232.0	226.0	228.0					2																	228197205		2203	4300	6503	SO:0001819	synonymous_variant	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228197205C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.330C>T	2.37:g.228197205C>T						MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P	p.P110P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			5	771	+			110					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	c.330C>T	CCDS2465.1																																																																																				0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		382	1229	0	0	0	1	0	382	1229				
NUP98	4928	broad.mit.edu	37	11	3800140	3800140	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3800140G>A	ENST00000324932.7	-	4	738	c.318C>T	c.(316-318)aaC>aaT	p.N106N	RNU7-50P_ENST00000459175.1_RNA|NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N|NUP98_ENST00000359171.4_Silent_p.N106N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	106	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAAAGGCATTGTTTTGGGATG	0.443			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(316-318)aaC>aaT		nucleoporin 98kDa							165.0	157.0	160.0					11																	3800140		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3800140G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.318C>T	11.37:g.3800140G>A						NUP98_ENST00000359171.4_Silent_p.N106N|NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N	p.N106N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	4	738	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	106			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.318C>T	CCDS7746.1																																																																																				0.443	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		57	460	0	0	0	1	0	57	460				
MFSD8	256471	broad.mit.edu	37	4	128843022	128843022	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128843022C>T	ENST00000296468.3	-	11	1222	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	MFSD8_ENST00000513559.1_Silent_p.Q320Q|MFSD8_ENST00000515130.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373																																						ENST00000296468.3																			1	Substitution - Missense(1)	p.Q365H(1)	prostate(1)	cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(1093-1095)caG>caA		major facilitator superfamily domain containing 8							67.0	69.0	69.0					4																	128843022		2203	4300	6503	SO:0001819	synonymous_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128843022C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1095G>A	4.37:g.128843022C>T						MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Silent_p.Q320Q	p.Q365Q	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			11	1222	-			365					B2RDM1|B7Z205|Q8N2P3	Silent	SNP	ENST00000296468.3	37	c.1095G>A	CCDS3736.1																																																																																				0.373	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		7	199	0	0	0	1	0	7	199				
NEFL	4747	broad.mit.edu	37	8	24813446	24813446	+	RNA	SNP	G	G	A	rs185200977	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813446G>A	ENST00000221169.5	-	0	1178				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCTTTGCGCGCTTCCATCAG	0.652													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		16235	0.0		0.0	False		,,,				2504	0.0					ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide		G	VAL/ALA	30,3798		0,30,1884	16.0	17.0	17.0		584	5.8	1.0	8		17	4,8200		0,4,4098	yes	missense	NEFL	NM_006158.3	64	0,34,5982	AA,AG,GG		0.0488,0.7837,0.2826	benign	195/544	24813446	34,11998	1914	4102	6016			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813446G>A		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813446G>A										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1178	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.652	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		40	154	0	0	0	1	0	40	154				
CIZ1	25792	broad.mit.edu	37	9	130947959	130947959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130947959G>T	ENST00000393608.1	-	5	657	c.455C>A	c.(454-456)cCc>cAc	p.P152H	CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H|CIZ1_ENST00000538431.1_Missense_Mutation_p.P152H	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	152					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTGGCCTGGGGAAAGAACTG	0.612																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(454-456)cCc>cAc		CDKN1A interacting zinc finger protein 1							58.0	58.0	58.0					9																	130947959		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130947959G>T	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.455C>A	9.37:g.130947959G>T	ENSP00000377232:p.Pro152His					CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Missense_Mutation_p.P152H|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H	p.P152H	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			5	702	-			152					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.455C>A	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446937	0.84101	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.33	5.33	0.75918	.	0.000000	0.52532	D	0.000074	D	0.88119	0.6351	L	0.29908	0.895	0.38617	D	0.951046	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.997;0.998;1.0;0.999	D;P;D;D;D;P;D;P	0.91635	0.998;0.885;0.999;0.946;0.926;0.875;0.999;0.885	D	0.89937	0.4070	10	0.87932	D	0	-25.5097	15.8799	0.79195	0.0:0.0:1.0:0.0	.	152;152;152;152;128;152;128;152	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	H	128;152;152;152;128;119;51;152;128;152;152;79;152;152	ENSP00000362045:P128H;ENSP00000377232:P152H;ENSP00000439244:P152H;ENSP00000350169:P152H;ENSP00000320374:P128H;ENSP00000445057:P51H;ENSP00000277465:P152H;ENSP00000362039:P152H;ENSP00000362029:P152H;ENSP00000398011:P79H;ENSP00000321780:P152H;ENSP00000407265:P152H	ENSP00000277465:P152H	P	-	2	0	CIZ1	129987780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.234000	0.65343	2.775000	0.95449	0.655000	0.94253	CCC		0.612	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		47	233	1	0	1.41504e-22	1	1.60265e-22	47	233				
SETBP1	26040	broad.mit.edu	37	18	42643106	42643106	+	Missense_Mutation	SNP	C	C	T	rs145996171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42643106C>T	ENST00000282030.5	+	6	4530	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1412						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGCGAAGTGCGGAAGATGTG	0.532									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(4234-4236)Cgg>Tgg		SET binding protein 1							57.0	54.0	55.0					18																	42643106		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643106C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4234C>T	18.37:g.42643106C>T	ENSP00000282030:p.Arg1412Trp						p.R1412W	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	4530	+			1412					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.4234C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153410	0.78114	.	.	ENSG00000152217	ENST00000282030	D	0.83673	-1.75	5.27	4.38	0.52667	.	0.000000	0.64402	D	0.000001	D	0.86468	0.5940	L	0.32530	0.975	0.39997	D	0.975114	D	0.89917	1.0	D	0.91635	0.999	D	0.88512	0.3090	10	0.87932	D	0	.	15.0866	0.72158	0.1431:0.8569:0.0:0.0	.	1412	Q9Y6X0	SETBP_HUMAN	W	1412	ENSP00000282030:R1412W	ENSP00000282030:R1412W	R	+	1	2	SETBP1	40897104	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.483000	0.53194	1.305000	0.44909	0.563000	0.77884	CGG		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		43	244	0	0	0	1	0	43	244				
DCBLD1	285761	broad.mit.edu	37	6	117841037	117841037	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117841037A>G	ENST00000338728.5	+	3	504	c.384A>G	c.(382-384)gtA>gtG	p.V128V	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.V128V|DCBLD1_ENST00000368503.4_Silent_p.V128V			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	128	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CAAGTGAAGTAACCGTCCGCT	0.438																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(382-384)gtA>gtG		discoidin, CUB and LCCL domain containing 1							143.0	130.0	134.0					6																	117841037		2203	4300	6503	SO:0001819	synonymous_variant	285761				cell adhesion	integral to membrane		g.chr6:117841037A>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.384A>G	6.37:g.117841037A>G						DCBLD1_ENST00000368503.4_Silent_p.V128V|DCBLD1_ENST00000296955.8_Silent_p.V128V|GOPC_ENST00000467125.1_Intron	p.V128V			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	3	504	+		all_cancers(87;0.171)	128			CUB.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37	c.384A>G																																																																																					0.438	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		80	312	0	0	0	1	0	80	312				
VTI1A	143187	broad.mit.edu	37	10	114575062	114575062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114575062C>T	ENST00000393077.2	+	8	690	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	192					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CATCCAGAACCGCATCCTGCT	0.493			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(574-576)Cgc>Tgc		vesicle transport through interaction with t-SNAREs 1A							144.0	138.0	140.0					10																	114575062		2057	4191	6248	SO:0001583	missense	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114575062C>T	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.574C>T	10.37:g.114575062C>T	ENSP00000376792:p.Arg192Cys						p.R192C	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	8	690	+		Colorectal(252;0.0314)|Breast(234;0.183)	0					A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	c.574C>T	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605788	0.87157	.	.	ENSG00000151532	ENST00000393077	.	.	.	6.02	6.02	0.97574	.	3.193000	0.00659	N	0.000585	D	0.86961	0.6059	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71882	-0.4458	9	0.87932	D	0	-49.539	20.5407	0.99260	0.0:1.0:0.0:0.0	.	192	Q5W0D7	.	C	192	.	ENSP00000376792:R192C	R	+	1	0	VTI1A	114565052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.263000	0.78421	2.865000	0.98341	0.655000	0.94253	CGC		0.493	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			68	281	0	0	0	1	0	68	281				
PON1	5444	broad.mit.edu	37	7	94940825	94940825	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94940825T>G	ENST00000222381.3	-	5	666	c.435A>C	c.(433-435)aaA>aaC	p.K145N	PON1_ENST00000542556.1_Missense_Mutation_p.K145N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	145					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CTTCTTGAAATTTAAACAACT	0.358																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(433-435)aaA>aaC		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						162.0	155.0	157.0					7																	94940825		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94940825T>G	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.435A>C	7.37:g.94940825T>G	ENSP00000222381:p.Lys145Asn					PON1_ENST00000542556.1_Missense_Mutation_p.K145N	p.K145N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	666	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		145					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.435A>C	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748396	0.49257	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.44482	0.92;0.92	4.64	1.07	0.20283	Six-bladed beta-propeller, TolB-like (1);	0.146914	0.64402	D	0.000015	T	0.38799	0.1054	M	0.73598	2.24	0.46298	D	0.998975	P;P	0.47191	0.891;0.826	B;B	0.39935	0.314;0.259	T	0.38112	-0.9676	10	0.72032	D	0.01	-24.5318	8.3656	0.32385	0.0:0.312:0.0:0.688	.	145;145	F5H4W9;P27169	.;PON1_HUMAN	N	145	ENSP00000222381:K145N;ENSP00000444854:K145N	ENSP00000222381:K145N	K	-	3	2	PON1	94778761	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.796000	0.26986	0.394000	0.25230	0.533000	0.62120	AAA		0.358	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		88	357	0	0	0	1	0	88	357				
PRL	5617	broad.mit.edu	37	6	22290448	22290448	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290448C>T	ENST00000306482.1	-	4	965	c.447G>A	c.(445-447)gaG>gaA	p.E149E	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	149					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTTTGGTTTGCTCCTCAATCT	0.502																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(445-447)gaG>gaA		prolactin							101.0	95.0	97.0					6																	22290448		2203	4300	6503	SO:0001819	synonymous_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290448C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.447G>A	6.37:g.22290448C>T						RP3-404K8.2_ENST00000561912.1_RNA	p.E149E	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	965	-	Ovarian(93;0.163)		149					Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	c.447G>A	CCDS4548.1																																																																																				0.502	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		57	313	0	0	0	1	0	57	313				
ZC3H6	376940	broad.mit.edu	37	2	113088934	113088934	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113088934C>T	ENST00000409871.1	+	12	2840	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	ZC3H6_ENST00000343936.4_Silent_p.G813G|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	813							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAATGCTGGCACTAATGTCA	0.438																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(2437-2439)ggC>ggT		zinc finger CCCH-type containing 6							119.0	114.0	116.0					2																	113088934		1933	4163	6096	SO:0001819	synonymous_variant	376940						nucleic acid binding|zinc ion binding	g.chr2:113088934C>T	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2439C>T	2.37:g.113088934C>T						ZC3H6_ENST00000343936.4_Silent_p.G813G	p.G813G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	2840	+			813					A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	c.2439C>T	CCDS46393.1																																																																																				0.438	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		85	455	0	0	0	1	0	85	455				
UBE2S	27338	broad.mit.edu	37	19	55913000	55913000	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55913000G>A	ENST00000264552.9	-	4	660	c.473C>T	c.(472-474)gCc>gTc	p.A158V	UBE2S_ENST00000592570.1_5'Flank|CTD-2105E13.13_ENST00000589101.1_lincRNA|RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	158					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGGCCCGCCGGCGCCCCCGTG	0.731																																						ENST00000264552.9																			0				lung(1)	1						c.(472-474)gCc>gTc		ubiquitin-conjugating enzyme E2S							4.0	6.0	6.0					19																	55913000		1774	3695	5469	SO:0001583	missense	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55913000G>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.473C>T	19.37:g.55913000G>A	ENSP00000264552:p.Ala158Val					RPL28_ENST00000560055.1_Intron	p.A158V	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	4	660	-	Breast(117;0.155)		158					Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	37	c.473C>T	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414335	0.25465	.	.	ENSG00000108106	ENST00000264552	T	0.58797	0.31	4.24	4.24	0.50183	Ubiquitin-conjugating enzyme/RWD-like (1);	0.230253	0.44688	D	0.000439	T	0.39600	0.1084	N	0.12569	0.235	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.23440	-1.0188	10	0.33940	T	0.23	-17.454	14.5214	0.67853	0.0:0.0:1.0:0.0	.	158	Q16763	UBE2S_HUMAN	V	158	ENSP00000264552:A158V	ENSP00000264552:A158V	A	-	2	0	UBE2S	60604812	0.556000	0.26538	0.117000	0.21633	0.156000	0.22039	4.405000	0.59741	2.095000	0.63458	0.561000	0.74099	GCC		0.731	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		22	98	0	0	0	1	0	22	98				
G3BP2	9908	broad.mit.edu	37	4	76582860	76582860	+	Missense_Mutation	SNP	G	G	A	rs267600258		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76582860G>A	ENST00000359707.4	-	4	1017	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C|G3BP2_ENST00000502654.1_5'UTR	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	78	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.R78C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCCACATGACGAATTTTAGTA	0.393																																						ENST00000359707.4																			2	Substitution - Missense(2)	p.R78C(2)	upper_aerodigestive_tract(1)|large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(232-234)Cgt>Tgt		GTPase activating protein (SH3 domain) binding protein 2							199.0	199.0	199.0					4																	76582860		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76582860G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.232C>T	4.37:g.76582860G>A	ENSP00000352738:p.Arg78Cys					G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C|G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C	p.R78C	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	1017	-			78			NTF2.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.232C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001953	0.54254	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745;ENST00000509100;ENST00000511146;ENST00000515457;ENST00000507252;ENST00000511868	T;T;T	0.78595	-1.18;-1.18;-1.19	5.87	5.87	0.94306	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.67953	2.075	0.80722	D	1	D;B	0.69078	0.997;0.149	P;B	0.45406	0.479;0.035	T	0.82991	-0.0182	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	78;78	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	78	ENSP00000379069:R78C;ENSP00000352738:R78C;ENSP00000350518:R78C	ENSP00000350518:R78C	R	-	1	0	G3BP2	76801884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.941000	0.99782	0.655000	0.94253	CGT		0.393	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		134	567	0	0	0	1	0	134	567				
EIF4G3	8672	broad.mit.edu	37	1	21268446	21268446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268446T>C	ENST00000264211.8	-	8	1227	c.1033A>G	c.(1033-1035)Aat>Gat	p.N345D	EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.N351D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	345					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGAATATCATTAGGTGCTACA	0.368																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1051-1053)Aat>Gat		eukaryotic translation initiation factor 4 gamma, 3							163.0	160.0	161.0					1																	21268446		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268446T>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1033A>G	1.37:g.21268446T>C	ENSP00000264211:p.Asn345Asp					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.N345D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D	p.N351D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1634	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	345					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1051A>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	7.730	0.699011	0.15106	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	6.17	5.03	0.67393	.	0.349556	0.32578	N	0.005906	T	0.10208	0.0250	N	0.14661	0.345	0.22541	N	0.99901	B;B;B;B;B	0.32467	0.185;0.167;0.372;0.023;0.094	B;B;B;B;B	0.30316	0.049;0.016;0.114;0.01;0.01	T	0.29305	-1.0016	10	0.13470	T	0.59	-2.3801	7.646	0.28321	0.0:0.073:0.3841:0.5429	.	345;540;471;351;345	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	345;541;345;351;471;345;356	ENSP00000264211:N345D;ENSP00000383274:N345D;ENSP00000364073:N351D;ENSP00000364062:N345D	ENSP00000264211:N345D	N	-	1	0	EIF4G3	21141033	0.477000	0.25909	1.000000	0.80357	0.982000	0.71751	0.318000	0.19504	1.134000	0.42165	0.533000	0.62120	AAT		0.368	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		95	812	0	0	0	1	0	95	812				
PCDH15	65217	broad.mit.edu	37	10	55582479	55582479	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55582479G>T	ENST00000320301.6	-	33	5401	c.5007C>A	c.(5005-5007)ttC>ttA	p.F1669L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000361849.3_Missense_Mutation_p.F1671L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1669					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGAGAATGAGAAGTGAGGCC	0.418										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(5011-5013)ttC>ttA		protocadherin-related 15							144.0	142.0	143.0					10																	55582479		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582479G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5007C>A	10.37:g.55582479G>T	ENSP00000322604:p.Phe1669Leu	HNSCC(58;0.16)				PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.F1669L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L	p.F1671L	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5407	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1669					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5013C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695374	0.30052	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.54479	0.6;0.57;0.61;0.58;0.58;0.6	4.95	1.56	0.23342	.	.	.	.	.	T	0.31918	0.0812	N	0.19112	0.55	0.25252	N	0.989667	B;B;B;B;B;B;B;B	0.25850	0.136;0.039;0.039;0.064;0.002;0.039;0.136;0.039	B;B;B;B;B;B;B;B	0.25759	0.063;0.039;0.039;0.028;0.003;0.039;0.055;0.039	T	0.20638	-1.0269	9	0.18710	T	0.47	.	6.3863	0.21561	0.5148:0.0:0.4852:0.0	.	1646;1669;1671;1676;1600;1629;1666;1669	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1629;1671;1646;1669;1666;1676;1600	ENSP00000378820:F1629L;ENSP00000354950:F1671L;ENSP00000378821:F1646L;ENSP00000322604:F1669L;ENSP00000378818:F1666L;ENSP00000412628:F1600L	ENSP00000322604:F1669L	F	-	3	2	PCDH15	55252485	0.992000	0.36948	0.808000	0.32385	0.419000	0.31324	0.704000	0.25661	0.480000	0.27534	0.655000	0.94253	TTC		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		96	460	1	0	1.31735e-33	1	1.56243e-33	96	460				
SBF1	6305	broad.mit.edu	37	22	50903334	50903334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50903334C>T	ENST00000390679.3	-	13	1529	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SBF1_ENST00000348911.6_Missense_Mutation_p.E450K|SBF1_ENST00000380817.3_Missense_Mutation_p.E449K			O95248	MTMR5_HUMAN	SET binding factor 1	449					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGCCACCTCGTGGGCCACC	0.642																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1345-1347)Gag>Aag		SET binding factor 1							44.0	48.0	47.0					22																	50903334		2109	4210	6319	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50903334C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1345G>A	22.37:g.50903334C>T	ENSP00000375097:p.Glu449Lys					SBF1_ENST00000348911.6_Missense_Mutation_p.E450K|SBF1_ENST00000390679.3_Missense_Mutation_p.E449K	p.E449K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	13	1528	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	449					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1345G>A		.	.	.	.	.	.	.	.	.	.	C	13.40	2.225242	0.39300	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86497	-2.13;-2.13;-2.13	3.93	3.93	0.45458	.	0.301834	0.30820	N	0.008819	T	0.80237	0.4586	L	0.53249	1.67	0.44447	D	0.997375	P;B;B	0.37612	0.602;0.414;0.414	B;B;B	0.29440	0.102;0.051;0.051	T	0.78984	-0.1988	10	0.07325	T	0.83	.	15.7463	0.77944	0.0:1.0:0.0:0.0	.	449;450;449	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	K	449;450;460;459;449	ENSP00000370196:E449K;ENSP00000252027:E450K;ENSP00000375097:E449K	ENSP00000336522:E459K	E	-	1	0	SBF1	49250200	0.980000	0.34600	0.970000	0.41538	0.971000	0.66376	2.869000	0.48444	2.038000	0.60285	0.591000	0.81541	GAG		0.642	SBF1-201	KNOWN	basic	protein_coding	protein_coding				49	253	0	0	0	1	0	49	253				
SNHG14	104472715	broad.mit.edu	37	15	25444599	25444599	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25444599C>T	ENST00000424208.1	+	0	1811				SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNORD115-17_ENST00000364612.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-16_ENST00000363887.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGTTTGGGTCAATGATGAGA	0.507																																						ENST00000424208.1																			0																				306.0	319.0	315.0					15																	25444599		876	1991	2867			0							g.chr15:25444599C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25444599C>T						SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	1811	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.507	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			234	1288	0	0	0	1	0	234	1288				
BATF	10538	broad.mit.edu	37	14	76012831	76012831	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76012831C>T	ENST00000286639.6	+	3	453	c.195C>T	c.(193-195)aaC>aaT	p.N65N	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	65	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGAAACAGAACGCGGCTCTAC	0.607																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(193-195)aaC>aaT		basic leucine zipper transcription factor, ATF-like							69.0	56.0	60.0					14																	76012831		2203	4300	6503	SO:0001819	synonymous_variant	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012831C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.195C>T	14.37:g.76012831C>T						BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	p.N65N	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	3	453	+			65			Leucine-zipper.			Silent	SNP	ENST00000286639.6	37	c.195C>T	CCDS9843.1																																																																																				0.607	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		20	230	0	0	0	1	0	20	230				
CHD9	80205	broad.mit.edu	37	16	53326775	53326775	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53326775A>G	ENST00000398510.3	+	28	5408	c.5321A>G	c.(5320-5322)tAt>tGt	p.Y1774C	CHD9_ENST00000566029.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000564845.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000447540.1_Missense_Mutation_p.Y1774C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1774					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATAAAGTATATTGGCCTACT	0.368																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5320-5322)tAt>tGt		chromodomain helicase DNA binding protein 9							122.0	114.0	116.0					16																	53326775		1886	4111	5997	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53326775A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5321A>G	16.37:g.53326775A>G	ENSP00000381522:p.Tyr1774Cys					CHD9_ENST00000447540.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000564845.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000398510.3_Missense_Mutation_p.Y1774C	p.Y1774C			Q3L8U1	CHD9_HUMAN			29	5530	+		all_cancers(37;0.0212)	1774					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5321A>G		.	.	.	.	.	.	.	.	.	.	A	15.87	2.960762	0.53400	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.91945	-2.94;-2.94	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000098	D	0.95567	0.8559	M	0.76328	2.33	0.80722	D	1	D;B;D;D	0.89917	0.999;0.103;0.999;1.0	D;B;D;D	0.85130	0.995;0.093;0.994;0.997	D	0.95318	0.8418	10	0.45353	T	0.12	-14.8435	15.3271	0.74172	1.0:0.0:0.0:0.0	.	142;1774;1774;1774	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	C	1774;1774;142	ENSP00000396345:Y1774C;ENSP00000381522:Y1774C	ENSP00000381522:Y1774C	Y	+	2	0	CHD9	51884276	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.869000	0.92326	2.023000	0.59567	0.482000	0.46254	TAT		0.368	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		12	355	0	0	0	1	0	12	355				
NEXN	91624	broad.mit.edu	37	1	78383276	78383276	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78383276T>C	ENST00000334785.7	+	3	237	c.53T>C	c.(52-54)gTc>gCc	p.V18A	NEXN_ENST00000294624.8_Missense_Mutation_p.V18A|NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000330010.8_Intron	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TCTAAACCTGTCCCAAAAACC	0.338																																						ENST00000334785.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(52-54)gTc>gCc		nexilin (F actin binding protein)							69.0	62.0	64.0					1																	78383276		1818	4083	5901	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383276T>C	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.53T>C	1.37:g.78383276T>C	ENSP00000333938:p.Val18Ala					NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000294624.8_Missense_Mutation_p.V18A|NEXN_ENST00000330010.8_Intron	p.V18A	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	3	237	+			18						Missense_Mutation	SNP	ENST00000334785.7	37	c.53T>C	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577398	0.65878	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.72505	-0.25;-0.66;-0.25;-0.55	5.51	5.51	0.81932	.	0.620166	0.13881	N	0.356346	T	0.56366	0.1980	L	0.54323	1.7	0.34155	D	0.668015	B	0.28971	0.229	B	0.25405	0.06	T	0.63686	-0.6581	10	0.87932	D	0	-0.3105	15.9178	0.79535	0.0:0.0:0.0:1.0	.	18	Q0ZGT2	NEXN_HUMAN	A	18	ENSP00000388048:V18A;ENSP00000294624:V18A;ENSP00000333938:V18A;ENSP00000411902:V18A	ENSP00000294624:V18A	V	+	2	0	NEXN	78155864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.525000	0.81892	2.216000	0.71823	0.533000	0.62120	GTC		0.338	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		47	147	0	0	0	1	0	47	147				
TNFSF18	8995	broad.mit.edu	37	1	173010570	173010570	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173010570C>A	ENST00000404377.3	-	3	537	c.537G>T	c.(535-537)caG>caT	p.Q179H	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	179					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTTTTAGAACCTGATGCTCAG	0.368																																						ENST00000404377.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						c.(535-537)caG>caT		tumor necrosis factor (ligand) superfamily, member 18							128.0	123.0	125.0					1																	173010570		2203	4300	6503	SO:0001583	missense	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173010570C>A	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.537G>T	1.37:g.173010570C>A	ENSP00000385470:p.Gln179His					TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H|RP1-15D23.2_ENST00000432694.1_RNA	p.Q179H	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN			3	537	-			179					A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP	ENST00000404377.3	37	c.537G>T	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012705	0.19277	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	D;D	0.94417	-3.42;-3.42	5.45	-0.157	0.13387	Tumour necrosis factor (1);Tumour necrosis factor-like (2);	0.333776	0.26072	N	0.026520	T	0.74703	0.3751	L	0.28274	0.84	0.09310	N	0.999996	B	0.31040	0.305	B	0.34652	0.187	T	0.68727	-0.5332	10	0.14656	T	0.56	-6.4029	0.9816	0.01437	0.3293:0.341:0.15:0.1798	.	179	Q9UNG2	TNF18_HUMAN	H	179;157	ENSP00000385470:Q179H;ENSP00000239468:Q157H	ENSP00000239468:Q157H	Q	-	3	2	TNFSF18	171277193	0.857000	0.29778	0.836000	0.33094	0.877000	0.50540	0.128000	0.15810	0.315000	0.23110	0.655000	0.94253	CAG		0.368	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		11	410	1	0	4.68919e-08	1	4.88816e-08	11	410				
TFAP2D	83741	broad.mit.edu	37	6	50683111	50683111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50683111G>A	ENST00000008391.3	+	2	550	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GATCCACCACGGGGAGCCCAC	0.622																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(322-324)Ggg>Agg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							111.0	101.0	104.0					6																	50683111		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683111G>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.322G>A	6.37:g.50683111G>A	ENSP00000008391:p.Gly108Arg						p.G108R	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	550	+	Lung NSC(77;0.0334)		108						Missense_Mutation	SNP	ENST00000008391.3	37	c.322G>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020360	0.54576	.	.	ENSG00000008197	ENST00000008391	D	0.97209	-4.29	5.21	5.21	0.72293	.	0.052063	0.85682	D	0.000000	D	0.95723	0.8609	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97398	0.9994	10	0.56958	D	0.05	-16.1546	19.1268	0.93388	0.0:0.0:1.0:0.0	.	108	Q7Z6R9	AP2D_HUMAN	R	108	ENSP00000008391:G108R	ENSP00000008391:G108R	G	+	1	0	TFAP2D	50791070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.588000	0.98232	2.590000	0.87494	0.655000	0.94253	GGG		0.622	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		24	544	0	0	0	1	0	24	544				
ZNF518B	85460	broad.mit.edu	37	4	10445398	10445398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10445398G>A	ENST00000326756.3	-	3	2993	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	852					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTACAGACAGCACTCTCTTT	0.458																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2554-2556)gCt>gTt		zinc finger protein 518B							76.0	75.0	75.0					4																	10445398		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445398G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2555C>T	4.37:g.10445398G>A	ENSP00000317614:p.Ala852Val						p.A852V	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2993	-			852					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2555C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829330	0.50845	.	.	ENSG00000178163	ENST00000326756	T	0.01613	4.73	6.02	3.3	0.37823	.	0.580762	0.16657	N	0.204927	T	0.01454	0.0047	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.46898	-0.9158	10	0.37606	T	0.19	-3.4808	7.1753	0.25740	0.1424:0.0:0.7213:0.1363	.	852	Q9C0D4	Z518B_HUMAN	V	852	ENSP00000317614:A852V	ENSP00000317614:A852V	A	-	2	0	ZNF518B	10054496	0.002000	0.14202	0.176000	0.23000	0.082000	0.17680	1.124000	0.31320	0.887000	0.36136	0.655000	0.94253	GCT		0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		87	307	0	0	0	1	0	87	307				
MDP1	145553	broad.mit.edu	37	14	24683543	24683543	+	Missense_Mutation	SNP	G	G	A	rs2295317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683543G>A	ENST00000288087.7	-	5	487	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000532557.1_Intron|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Intron|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	126						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						ACAATATTCCGCCTCTCATCA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21732	0.0		0.0	False		,,,				2504	0.001					ENST00000288087.7																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(376-378)Cgg>Tgg		magnesium-dependent phosphatase 1		G	,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	137.0	139.0		,376,427,376	4.1	1.0	14	dbSNP_100	139	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	MDP1,NEDD8-MDP1	NM_001199821.1,NM_001199822.1,NM_001199823.1,NM_138476.3	,101,101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,probably-damaging,probably-damaging,probably-damaging	,126/138,143/194,126/177	24683543	2,13004	2203	4300	6503	SO:0001583	missense	145553							g.chr14:24683543G>A	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.376C>T	14.37:g.24683543G>A	ENSP00000288087:p.Arg126Trp					NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W|MDP1_ENST00000396833.2_Intron|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_Intron	p.R126W	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					5	487	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.376C>T	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149115	0.78001	2.27E-4	1.16E-4	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97404	-4.37;-4.37	5.0	4.1	0.47936	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.27991	U	0.017029	D	0.97914	0.9314	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97380	0.9982	10	0.41790	T	0.15	-13.1301	10.6353	0.45560	0.0:0.0:0.8088:0.1912	.	126	Q86V88	MGDP1_HUMAN	W	126;143	ENSP00000288087:R126W;ENSP00000431482:R143W	ENSP00000288087:R126W	R	-	1	2	MDP1;NEDD8-MDP1	23753383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.475000	0.45162	1.323000	0.45263	0.655000	0.94253	CGG		0.458	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		117	545	0	0	0	1	0	117	545				
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000382331.1_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1876-1878)Cca>Tca		dedicator of cytokinesis 8							123.0	111.0	115.0					9																	372257		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:372257C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2080C>T	9.37:g.372257C>T	ENSP00000408464:p.Pro694Ser					DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S	p.P626S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	18	2192	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	694					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1876C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		60	313	0	0	0	1	0	60	313				
CYP2A13	1553	broad.mit.edu	37	19	41596450	41596450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41596450C>T	ENST00000330436.3	+	4	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	212					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TTCCAGTTCACGGCAACCTCC	0.572																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(634-636)aCg>aTg		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						117.0	103.0	108.0					19																	41596450		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596450C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.635C>T	19.37:g.41596450C>T	ENSP00000332679:p.Thr212Met						p.T212M	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			4	635	+			212					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.635C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	3.541	-0.093776	0.07053	.	.	ENSG00000197838	ENST00000330436	T	0.68331	-0.32	3.66	3.66	0.41972	.	1.565340	0.03511	U	0.219623	T	0.48352	0.1495	N	0.11870	0.19	0.09310	N	1	P	0.49307	0.922	B	0.39590	0.304	T	0.44802	-0.9304	10	0.18276	T	0.48	.	9.0369	0.36293	0.0:0.7731:0.2269:0.0	.	212	Q16696	CP2AD_HUMAN	M	212	ENSP00000332679:T212M	ENSP00000332679:T212M	T	+	2	0	CYP2A13	46288290	0.000000	0.05858	0.636000	0.29352	0.155000	0.21991	0.478000	0.22212	1.871000	0.54225	0.195000	0.17529	ACG		0.572	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		73	432	0	0	0	1	0	73	432				
NKAP	79576	broad.mit.edu	37	X	119070262	119070262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119070262C>T	ENST00000371410.3	-	4	837	c.671G>A	c.(670-672)aGt>aAt	p.S224N	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	224	Lys-rich.|Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTCTTACCACTGGAGTCTGT	0.348																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(670-672)aGt>aAt		NFKB activating protein							178.0	150.0	159.0					X																	119070262		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119070262C>T	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.671G>A	X.37:g.119070262C>T	ENSP00000360464:p.Ser224Asn					NKAP_ENST00000477789.1_5'UTR	p.S224N	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			4	837	-			224			Lys-rich.|Necessary for interaction with CIR1.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.671G>A	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268188	0.23136	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	5.02	4.13	0.48395	.	0.323216	0.35772	N	0.002996	T	0.19485	0.0468	L	0.33245	0.995	0.38041	D	0.935452	P;P	0.51791	0.948;0.939	P;P	0.52598	0.508;0.703	T	0.02933	-1.1092	10	0.28530	T	0.3	-6.188	10.8319	0.46665	0.0:0.9031:0.0:0.0969	.	224;224	Q8N5F7;A0PJ73	NKAP_HUMAN;.	N	224	ENSP00000360464:S224N	ENSP00000360464:S224N	S	-	2	0	NKAP	118954290	1.000000	0.71417	0.679000	0.29978	0.969000	0.65631	2.600000	0.46240	2.225000	0.72522	0.594000	0.82650	AGT		0.348	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		16	436	0	0	0	1	0	16	436				
TAAR6	319100	broad.mit.edu	37	6	132891977	132891977	+	Missense_Mutation	SNP	T	T	C	rs41298397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132891977T>C	ENST00000275198.1	+	1	517	c.517T>C	c.(517-519)Tat>Cat	p.Y173H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	173			Y -> C (in dbSNP:rs17061404). {ECO:0000269|PubMed:15329799}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CACAGGTGTCTATGACGATGG	0.468													T|||	7	0.00139776	0.0	0.0029	5008	,	,		19505	0.0		0.003	False		,,,				2504	0.002					ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(517-519)Tat>Cat		trace amine associated receptor 6		T	HIS/TYR	8,4398	14.3+/-33.2	0,8,2195	199.0	200.0	199.0		517	1.4	0.0	6	dbSNP_127	199	35,8565	24.0+/-70.4	0,35,4265	yes	missense	TAAR6	NM_175067.1	83	0,43,6460	CC,CT,TT		0.407,0.1816,0.3306	benign	173/346	132891977	43,12963	2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891977T>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.517T>C	6.37:g.132891977T>C	ENSP00000275198:p.Tyr173His						p.Y173H	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	517	+	Breast(56;0.112)		173		Y -> C (in dbSNP:rs17061404).			Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.517T>C	CCDS5155.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	T	11.58	1.679701	0.29783	0.001816	0.00407	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.72505	-0.66	5.11	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.286909	0.20600	N	0.089177	T	0.21227	0.0511	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.19224	-1.0312	10	0.27082	T	0.32	-2.0739	1.253	0.01986	0.4799:0.179:0.1013:0.2398	rs41298397	173	Q96RI8	TAAR6_HUMAN	H	173;156	ENSP00000275198:Y173H	ENSP00000275198:Y173H	Y	+	1	0	TAAR6	132933670	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.098000	0.11024	0.076000	0.16826	0.528000	0.53228	TAT		0.468	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		205	818	0	0	0	1	0	205	818				
C1orf162	128346	broad.mit.edu	37	1	112020639	112020639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112020639C>A	ENST00000343534.5	+	6	612	c.362C>A	c.(361-363)gCc>gAc	p.A121D	C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	121						integral component of membrane (GO:0016021)		p.A121V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTTACCTATGCCAGCACAACT	0.443																																						ENST00000343534.5																			1	Substitution - Missense(1)	p.A121V(1)	ovary(1)	NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(361-363)gCc>gAc		chromosome 1 open reading frame 162							103.0	98.0	99.0					1																	112020639		2203	4300	6503	SO:0001583	missense	128346					integral to membrane		g.chr1:112020639C>A	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.362C>A	1.37:g.112020639C>A	ENSP00000344218:p.Ala121Asp					C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D|C1orf162_ENST00000464591.1_3'UTR	p.A121D	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	6	612	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	121					Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	c.362C>A	CCDS837.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333575	0.60853	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	T;T	0.60299	0.2;0.21	5.11	4.15	0.48705	.	0.000000	0.44688	D	0.000423	T	0.53238	0.1784	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.45804	-0.9236	10	0.87932	D	0	-10.5295	11.5922	0.50951	0.0:0.8212:0.1788:0.0	.	121	Q8NEQ5	CA162_HUMAN	D	121;96	ENSP00000344218:A121D;ENSP00000358732:A96D	ENSP00000344218:A121D	A	+	2	0	C1orf162	111822162	0.052000	0.20516	0.192000	0.23308	0.011000	0.07611	0.626000	0.24492	2.651000	0.90000	0.655000	0.94253	GCC		0.443	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		37	330	1	0	6.29468e-14	1	6.81746e-14	37	330				
C17orf77	146723	broad.mit.edu	37	17	72588204	72588204	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72588204T>C	ENST00000392620.1	+	3	381	c.19T>C	c.(19-21)Tca>Cca	p.S7P	C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	7						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATTGGCGCTGTCATTTTCCCT	0.463																																						ENST00000392620.1																			0				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(19-21)Tca>Cca		chromosome 17 open reading frame 77							110.0	111.0	111.0					17																	72588204		2203	4300	6503	SO:0001583	missense	146723					extracellular region		g.chr17:72588204T>C		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.19T>C	17.37:g.72588204T>C	ENSP00000376396:p.Ser7Pro					CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P	p.S7P	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN			3	381	+			7						Missense_Mutation	SNP	ENST00000392620.1	37	c.19T>C	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	T	3.776	-0.046570	0.07407	.	.	ENSG00000182352	ENST00000524389;ENST00000392620;ENST00000328023	T;T	0.54866	0.55;0.55	2.47	-2.1	0.07210	.	.	.	.	.	T	0.28200	0.0696	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18967	-1.0320	9	0.87932	D	0	.	6.4509	0.21903	0.0:0.3307:0.0:0.6693	.	7	Q96MU5	CQ077_HUMAN	P	7	ENSP00000376396:S7P;ENSP00000329353:S7P	ENSP00000329353:S7P	S	+	1	0	C17orf77	70099799	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.118000	0.10692	-0.473000	0.06871	-0.961000	0.02630	TCA		0.463	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		102	488	0	0	0	1	0	102	488				
KIAA1958	158405	broad.mit.edu	37	9	115421772	115421772	+	Missense_Mutation	SNP	C	C	T	rs200477840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421772C>T	ENST00000337530.6	+	4	1870	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	525										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGTCGGGCGCGCGTTCTCGC	0.577																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1573-1575)gCg>gTg		KIAA1958							61.0	51.0	54.0					9																	115421772		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115421772C>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1574C>T	9.37:g.115421772C>T	ENSP00000336940:p.Ala525Val					KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	p.A525V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1870	+			525					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1574C>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601652	0.46423	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.20536	0.0494	N	0.08118	0	0.26310	N	0.977833	P;P	0.44006	0.824;0.53	B;B	0.33121	0.158;0.048	T	0.13176	-1.0519	8	0.27785	T	0.31	.	19.3641	0.94454	0.0:1.0:0.0:0.0	.	553;525	B7ZKW6;Q8N8K9	.;K1958_HUMAN	V	525;553	.	ENSP00000336940:A525V	A	+	2	0	KIAA1958	114461593	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	2.033000	0.41136	2.676000	0.91093	0.655000	0.94253	GCG		0.577	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		18	112	0	0	0	1	0	18	112				
AKAP9	10142	broad.mit.edu	37	7	91699387	91699387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91699387G>A	ENST00000359028.2	+	28	6635	c.6410G>A	c.(6409-6411)tGc>tAc	p.C2137Y	AKAP9_ENST00000358100.2_Missense_Mutation_p.C2137Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.C2125Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2137	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACAAATGCAGTGAGCTT	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(6409-6411)tGc>tAc		A kinase (PRKA) anchor protein 9							97.0	110.0	106.0					7																	91699387		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91699387G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6410G>A	7.37:g.91699387G>A	ENSP00000351922:p.Cys2137Tyr					AKAP9_ENST00000356239.3_Missense_Mutation_p.C2125Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.C2137Y	p.C2137Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		28	6635	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2137			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.6410G>A		.	.	.	.	.	.	.	.	.	.	G	17.03	3.284671	0.59867	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03468	3.93;3.93;3.92	5.3	5.3	0.74995	.	0.000000	0.43416	D	0.000566	T	0.13798	0.0334	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.986;0.991;0.999	T	0.14504	-1.0470	10	0.05351	T	0.99	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	2137;2125;2125	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	2125;2137;2137;2137	ENSP00000348573:C2125Y;ENSP00000351922:C2137Y;ENSP00000350813:C2137Y	ENSP00000348573:C2125Y	C	+	2	0	AKAP9	91537323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.749000	0.91619	2.650000	0.89964	0.557000	0.71058	TGC		0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		28	750	0	0	0	1	0	28	750				
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(178-180)Gcg>Acg		immunoglobulin superfamily containing leucine-rich repeat 2							72.0	60.0	64.0					15																	74425273		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425273G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.178G>A	15.37:g.74425273G>A	ENSP00000355402:p.Ala60Thr					ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron	p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	947	+			60					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.178G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714877	0.68844	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44620	-0.9316	10	0.23891	T	0.37	.	17.5608	0.87906	0.0:0.0:1.0:0.0	.	60	Q6UXK2	ISLR2_HUMAN	T	60	ENSP00000403244:A60T;ENSP00000355402:A60T;ENSP00000411443:A60T;ENSP00000411834:A60T;ENSP00000408872:A60T	ENSP00000355402:A60T	A	+	1	0	ISLR2	72212326	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	9.661000	0.98601	2.151000	0.67156	0.407000	0.27541	GCG		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		108	416	0	0	0	1	0	108	416				
HPD	3242	broad.mit.edu	37	12	122281734	122281734	+	Missense_Mutation	SNP	C	C	T	rs140144597	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122281734C>T	ENST00000289004.4	-	12	871	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HPD_ENST00000543163.1_Missense_Mutation_p.R240H	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	279					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCTCAAGTGGCGAATCTGTTT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		16832	0.0		0.001	False		,,,				2504	0.001					ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(718-720)cGc>cAc		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	114.0	107.0	109.0		719,836	2.3	1.0	12	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	HPD	NM_001171993.1,NM_002150.2	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	240/355,279/394	122281734	3,13003	2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122281734C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.836G>A	12.37:g.122281734C>T	ENSP00000289004:p.Arg279His					HPD_ENST00000289004.4_Missense_Mutation_p.R279H	p.R240H	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	13	1164	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		279					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.719G>A	CCDS9224.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.07	1.826537	0.32329	0.0	3.49E-4	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64803	-0.12;-0.12	4.32	2.32	0.28847	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.558450	0.19279	N	0.118206	T	0.64605	0.2613	M	0.82517	2.595	0.36281	D	0.855792	P	0.40083	0.702	B	0.39617	0.305	T	0.74559	-0.3625	10	0.48119	T	0.1	-25.6894	12.6809	0.56922	0.0:0.4062:0.5938:0.0	.	279	P32754	HPPD_HUMAN	H	279;276;240	ENSP00000289004:R279H;ENSP00000441677:R240H	ENSP00000289004:R279H	R	-	2	0	HPD	120766117	0.999000	0.42202	0.992000	0.48379	0.502000	0.33828	1.786000	0.38694	1.003000	0.39130	0.511000	0.50034	CGC		0.537	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		36	208	0	0	0	1	0	36	208				
CCDC86	79080	broad.mit.edu	37	11	60617793	60617793	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60617793A>G	ENST00000227520.5	+	4	1132	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V	CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	360					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						GGCAGCCAAGATCTGAGCTCA	0.637																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(1078-1080)Atc>Gtc		coiled-coil domain containing 86							29.0	36.0	33.0					11																	60617793		2203	4299	6502	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60617793A>G	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.1078A>G	11.37:g.60617793A>G	ENSP00000227520:p.Ile360Val					RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V	p.I360V	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			4	1132	+			360					B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.1078A>G	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	A	6.718	0.501202	0.12822	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T	0.40225	1.04	4.66	-0.718	0.11205	.	0.837667	0.09890	N	0.742530	T	0.20455	0.0492	N	0.16307	0.4	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.02654	T	1	.	8.2856	0.31926	0.4016:0.0:0.5984:0.0	.	360	Q9H6F5	CCD86_HUMAN	V	360;104	ENSP00000227520:I360V	ENSP00000227520:I360V	I	+	1	0	CCDC86	60374369	0.090000	0.21635	0.653000	0.29593	0.649000	0.38597	0.229000	0.17833	-0.207000	0.10187	0.459000	0.35465	ATC		0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		11	363	0	0	0	1	0	11	363				
HES2	54626	broad.mit.edu	37	1	6479365	6479365	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6479365G>T	ENST00000377834.4	-	3	275	c.177C>A	c.(175-177)gtC>gtA	p.V59V	HES2_ENST00000377837.1_Intron|HES2_ENST00000489730.1_Silent_p.V59V|HES2_ENST00000471190.1_5'Flank|HES2_ENST00000377836.4_Intron|HES2_ENST00000487437.1_Intron	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2	59	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|transcription factor binding (GO:0008134)			lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCATTTCCAGGACGTCTGCCT	0.652																																						ENST00000377834.4																			0				lung(1)|ovary(1)	2						c.(175-177)gtC>gtA		hes family bHLH transcription factor 2							30.0	36.0	34.0					1																	6479365		2200	4297	6497	SO:0001819	synonymous_variant	54626				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:6479365G>T	AL031848	CCDS30574.1	1p36.31	2013-10-17	2013-10-17		ENSG00000069812	ENSG00000069812		"""Basic helix-loop-helix proteins"""	16005	protein-coding gene	gene with protein product		609970	"""hairy and enhancer of split 2 (Drosophila)"""			15254753	Standard	NM_019089		Approved	bHLHb40	uc001amx.3	Q9Y543	OTTHUMG00000000752	ENST00000377834.4:c.177C>A	1.37:g.6479365G>T						HES2_ENST00000487437.1_Intron|HES2_ENST00000377836.4_Intron|HES2_ENST00000377837.1_Intron|HES2_ENST00000489730.1_Silent_p.V59V	p.V59V	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	3	275	-	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	59			Helix-loop-helix motif.		A2RTZ9|Q96EN4|Q9Y542	Silent	SNP	ENST00000377834.4	37	c.177C>A	CCDS30574.1																																																																																				0.652	HES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001881.1	NM_019089		15	143	1	0	2.31682e-05	1	2.36778e-05	15	143				
TMPRSS6	164656	broad.mit.edu	37	22	37499282	37499282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37499282G>A	ENST00000346753.3	-	2	319	c.203C>T	c.(202-204)gCg>gTg	p.A68V	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A59V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	68					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGCACCCCCGCCGAAGCCAG	0.627																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(175-177)gCg>gTg		transmembrane protease, serine 6							49.0	50.0	50.0					22																	37499282		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499282G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.203C>T	22.37:g.37499282G>A	ENSP00000334962:p.Ala68Val					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A68V	p.A59V			Q8IU80	TMPS6_HUMAN			2	316	-			68					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.176C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776603	0.00640	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91740	-2.9;-2.9;-2.9;-2.9;-0.88;-2.44	4.39	-3.81	0.04294	.	0.568873	0.16744	N	0.201301	T	0.76371	0.3978	N	0.14661	0.345	0.09310	N	0.999992	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.66822	-0.5826	10	0.05620	T	0.96	.	6.138	0.20243	0.2238:0.3691:0.4071:0.0	.	68;59;68	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	V	59;68;59;59;68;59	ENSP00000371211:A59V;ENSP00000334962:A68V;ENSP00000385453:A59V;ENSP00000384964:A59V;ENSP00000397691:A68V;ENSP00000400317:A59V	ENSP00000334962:A68V	A	-	2	0	TMPRSS6	35829228	0.412000	0.25392	0.426000	0.26672	0.059000	0.15707	0.133000	0.15912	-0.296000	0.08947	-0.362000	0.07510	GCG		0.627	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		81	297	0	0	0	1	0	81	297				
EPX	8288	broad.mit.edu	37	17	56274612	56274612	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56274612C>A	ENST00000225371.5	+	7	1224	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	372					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCCCTGCTTCCTGGCAGGTCA	0.622																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1114-1116)Ctg>Atg		eosinophil peroxidase							44.0	46.0	45.0					17																	56274612		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274612C>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1114C>A	17.37:g.56274612C>A	ENSP00000225371:p.Leu372Met						p.L372M	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	1224	+			372					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1114C>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961240	0.53400	.	.	ENSG00000121053	ENST00000225371	T	0.75154	-0.91	4.86	3.9	0.45041	.	0.304053	0.31438	N	0.007660	D	0.83695	0.5310	M	0.80183	2.485	0.43149	D	0.994916	D	0.76494	0.999	D	0.72982	0.979	D	0.83894	0.0286	10	0.59425	D	0.04	-8.0465	7.8255	0.29313	0.0:0.8096:0.0:0.1904	.	372	P11678	PERE_HUMAN	M	372	ENSP00000225371:L372M	ENSP00000225371:L372M	L	+	1	2	EPX	53629611	0.405000	0.25336	1.000000	0.80357	0.974000	0.67602	0.042000	0.13949	1.185000	0.42971	0.462000	0.41574	CTG		0.622	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		37	298	1	0	3.38236e-24	1	3.86174e-24	37	298				
PGBD3	267004	broad.mit.edu	37	10	50724850	50724850	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50724850C>A	ENST00000374127.3	-	2	512	c.311G>T	c.(310-312)aGg>aTg	p.R104M	PGBD3_ENST00000508005.2_Missense_Mutation_p.R104M|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R572M|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R572M|PGBD3_ENST00000603152.1_Missense_Mutation_p.R572M	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	104										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CATTTTCCTCCTCCTTGATGG	0.453																																						ENST00000515869.1																			0											c.(1714-1716)aGg>aTg									120.0	113.0	115.0					10																	50724850		2203	4300	6503	SO:0001583	missense	0							g.chr10:50724850C>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.311G>T	10.37:g.50724850C>A	ENSP00000363242:p.Arg104Met					PGBD3_ENST00000374127.3_Missense_Mutation_p.R104M|PGBD3_ENST00000603152.1_Missense_Mutation_p.R572M|PGBD3_ENST00000508005.2_Missense_Mutation_p.R104M|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R572M|ERCC6_ENST00000355832.5_Intron	p.R572M	NM_001277059.1	NP_001263988.1					6	1835	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1715G>T	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	7.302	0.613294	0.14066	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.18502	2.21;2.21;3.13;3.13	0.468	-0.558	0.11796	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.21220	N	0.999754	P;B	0.50819	0.939;0.004	B;B	0.38880	0.284;0.0	T	0.25882	-1.0119	8	0.46703	T	0.11	-28.964	.	.	.	.	572;104	E7EV46;Q8N328	.;PGBD3_HUMAN	M	104;104;572;572	ENSP00000363242:R104M;ENSP00000426963:R104M;ENSP00000423550:R572M;ENSP00000387966:R572M	ENSP00000387966:R572M	R	-	2	0	PGBD3;RP11-123B3.6	50394856	0.960000	0.32886	0.042000	0.18584	0.037000	0.13140	0.100000	0.15231	-0.344000	0.08338	-0.339000	0.08088	AGG		0.453	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			113	436	1	0	3.30846e-59	1	4.15322e-59	113	436				
PPARGC1A	10891	broad.mit.edu	37	4	23815518	23815518	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815518A>T	ENST00000264867.2	-	8	1707	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	530	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATGAATAGGATTGCGTGCCA	0.413																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1588-1590)Tcc>Acc		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							146.0	139.0	142.0					4																	23815518		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815518A>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1588T>A	4.37:g.23815518A>T	ENSP00000264867:p.Ser530Thr					PPARGC1A_ENST00000509702.1_5'UTR	p.S530T	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1707	-		Breast(46;0.0503)	530					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1588T>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.618834	0.28801	.	.	ENSG00000109819	ENST00000264867	T	0.22539	1.95	6.16	3.67	0.42095	.	0.316917	0.38272	N	0.001760	T	0.15262	0.0368	L	0.55481	1.735	0.80722	D	1	P	0.39782	0.688	B	0.33750	0.169	T	0.08806	-1.0704	10	0.15066	T	0.55	-0.2608	7.3919	0.26915	0.712:0.1518:0.1362:0.0	.	530	Q9UBK2	PRGC1_HUMAN	T	530	ENSP00000264867:S530T	ENSP00000264867:S530T	S	-	1	0	PPARGC1A	23424616	0.469000	0.25846	0.716000	0.30569	0.992000	0.81027	0.998000	0.29744	0.532000	0.28657	0.528000	0.53228	TCC		0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		107	511	0	0	0	1	0	107	511				
GANAB	23193	broad.mit.edu	37	11	62393376	62393376	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62393376A>G	ENST00000356638.3	-	24	2762	c.2746T>C	c.(2746-2748)Tcc>Ccc	p.S916P	GANAB_ENST00000540933.1_Missense_Mutation_p.S819P|GANAB_ENST00000346178.4_Missense_Mutation_p.S938P|GANAB_ENST00000534779.1_Missense_Mutation_p.S824P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	916					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGCTGGAAGGACAGGCGGCTT	0.512																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(2812-2814)Tcc>Ccc		glucosidase, alpha; neutral AB							94.0	90.0	91.0					11																	62393376		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62393376A>G	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2746T>C	11.37:g.62393376A>G	ENSP00000349053:p.Ser916Pro					GANAB_ENST00000540933.1_Missense_Mutation_p.S819P|GANAB_ENST00000356638.3_Missense_Mutation_p.S916P|GANAB_ENST00000534779.1_Missense_Mutation_p.S824P	p.S938P	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			25	2827	-			916					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2812T>C	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746685	0.30955	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88896	-2.38;-2.33;-2.44;-2.38	4.84	0.998	0.19857	.	0.571109	0.17907	N	0.157987	T	0.77705	0.4170	N	0.16790	0.44	0.29699	N	0.84028	B;B;B;B	0.23249	0.082;0.082;0.0;0.0	B;B;B;B	0.27262	0.078;0.078;0.002;0.001	T	0.70185	-0.4941	10	0.48119	T	0.1	-5.0023	6.0398	0.19728	0.3491:0.489:0.0:0.162	.	802;824;916;938	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	P	938;916;824;819	ENSP00000340466:S938P;ENSP00000349053:S916P;ENSP00000435306:S824P;ENSP00000442962:S819P	ENSP00000340466:S938P	S	-	1	0	GANAB	62149952	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.455000	0.35190	0.693000	0.31634	0.459000	0.35465	TCC		0.512	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		36	251	0	0	0	1	0	36	251				
TMC6	11322	broad.mit.edu	37	17	76122448	76122448	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76122448C>T	ENST00000590602.1	-	4	341		c.e4-1		TMC6_ENST00000306591.7_Splice_Site|TMC6_ENST00000322933.4_Splice_Site|TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000392467.3_Splice_Site|TMC6_ENST00000322914.3_Splice_Site			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6						ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCTACTTCCTACAAAGCAA	0.637																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.e4-1		transmembrane channel-like 6							17.0	21.0	19.0					17																	76122448		2190	4294	6484	SO:0001630	splice_region_variant	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76122448C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.182-1G>A	17.37:g.76122448C>T						TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000322933.4_Splice_Site|TMC6_ENST00000392467.3_Splice_Site|TMC6_ENST00000322914.3_Splice_Site|TMC6_ENST00000306591.7_Splice_Site				Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	341	-								O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Splice_Site	SNP	ENST00000590602.1	37		CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165376	0.21538	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.35357	D	0.787859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0394	0.58891	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMC6	73634043	0.348000	0.24861	0.022000	0.16811	0.039000	0.13416	5.236000	0.65354	1.867000	0.54127	0.561000	0.74099	.		0.637	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1		Intron	21	62	0	0	0	1	0	21	62				
ZHX2	22882	broad.mit.edu	37	8	123965964	123965964	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965964C>T	ENST00000314393.4	+	3	3049	c.2214C>T	c.(2212-2214)tgC>tgT	p.C738C		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	738					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAAGCTCTGCGAAGAGGACT	0.532																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(2212-2214)tgC>tgT		zinc fingers and homeoboxes 2							92.0	98.0	96.0					8																	123965964		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965964C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2214C>T	8.37:g.123965964C>T							p.C738C	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	3049	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		738						Silent	SNP	ENST00000314393.4	37	c.2214C>T	CCDS6336.1																																																																																				0.532	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		106	486	0	0	0	1	0	106	486				
OVCH1	341350	broad.mit.edu	37	12	29649590	29649590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29649590G>A	ENST00000318184.5	-	2	81	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	28						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R28C(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGACCATGCGAATTCCACAC	0.428																																						ENST00000318184.5																			1	Substitution - Missense(1)	p.R28C(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(82-84)Cgc>Tgc		ovochymase 1							133.0	125.0	127.0					12																	29649590		1877	4126	6003	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29649590G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.82C>T	12.37:g.29649590G>A	ENSP00000326708:p.Arg28Cys						p.R28C	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			2	81	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		28						Missense_Mutation	SNP	ENST00000318184.5	37	c.82C>T		.	.	.	.	.	.	.	.	.	.	g	10.08	1.251177	0.22880	.	.	ENSG00000187950	ENST00000318184	D	0.88431	-2.38	2.88	-1.01	0.10169	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.74344	0.3704	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.08055	0.003	T	0.62310	-0.6881	9	0.72032	D	0.01	.	6.136	0.20233	0.5204:0.0:0.4796:0.0	.	28	Q7RTY7	OVCH1_HUMAN	C	28	ENSP00000326708:R28C	ENSP00000326708:R28C	R	-	1	0	OVCH1	29540857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.246000	0.09611	-1.003000	0.02500	CGC		0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		79	359	0	0	0	1	0	79	359				
LRSAM1	90678	broad.mit.edu	37	9	130251746	130251746	+	Silent	SNP	C	C	T	rs571925919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251746C>T	ENST00000323301.4	+	18	1975	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	LRSAM1_ENST00000300417.6_Silent_p.F457F|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.F457F|LRSAM1_ENST00000373324.4_Silent_p.F457F	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	457					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F457F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGCTGCGTTCGAGGCACTCC	0.612																																						ENST00000323301.4																			1	Substitution - coding silent(1)	p.F457F(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(1369-1371)ttC>ttT		leucine rich repeat and sterile alpha motif containing 1							60.0	49.0	53.0					9																	130251746		2203	4299	6502	SO:0001819	synonymous_variant	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130251746C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1371C>T	9.37:g.130251746C>T						LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.F457F|LRSAM1_ENST00000373324.4_Silent_p.F457F|LRSAM1_ENST00000300417.6_Silent_p.F457F	p.F457F	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			18	1975	+			457					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	c.1371C>T	CCDS6873.1																																																																																				0.612	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		12	69	0	0	0	1	0	12	69				
PPP1R26	9858	broad.mit.edu	37	9	138379635	138379635	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138379635C>A	ENST00000356818.2	+	4	3828	c.3279C>A	c.(3277-3279)gtC>gtA	p.V1093V	PPP1R26_ENST00000401470.3_Silent_p.V1093V|PPP1R26_ENST00000605660.1_Silent_p.V1093V|PPP1R26_ENST00000604351.1_Silent_p.V1093V|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.V1093V	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1093					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GAAAGGGTGTCTCCTGGGGGG	0.721																																						ENST00000356818.2																			0											c.(3277-3279)gtC>gtA		protein phosphatase 1, regulatory subunit 26							5.0	7.0	7.0					9																	138379635		1695	3671	5366	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379635C>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3279C>A	9.37:g.138379635C>A						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.V1093V|PPP1R26_ENST00000605286.1_Silent_p.V1093V|PPP1R26_ENST00000604351.1_Silent_p.V1093V|PPP1R26_ENST00000401470.3_Silent_p.V1093V	p.V1093V	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3828	+			1093					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.3279C>A	CCDS6988.1																																																																																				0.721	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		9	57	1	0	1.12685e-05	1	1.15515e-05	9	57				
ARID2	196528	broad.mit.edu	37	12	46233202	46233202	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46233202G>A	ENST00000334344.6	+	11	1593	c.1421G>A	c.(1420-1422)aGt>aAt	p.S474N	ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	474					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAAGTTCCAGTCATCAAATG	0.403			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1420-1422)aGt>aAt		AT rich interactive domain 2 (ARID, RFX-like)							176.0	160.0	166.0					12																	46233202		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46233202G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1421G>A	12.37:g.46233202G>A	ENSP00000335044:p.Ser474Asn					ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N	p.S474N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	11	1593	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	474					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1421G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012622	0.35511	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.31510	1.49	5.09	0.249	0.15531	.	0.491901	0.23801	N	0.044436	T	0.11922	0.0290	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-0.8804	4.9068	0.13802	0.3033:0.2931:0.4036:0.0	.	474;325;474	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	N	474;325;84	ENSP00000335044:S474N	ENSP00000335044:S474N	S	+	2	0	ARID2	44519469	0.998000	0.40836	0.998000	0.56505	0.981000	0.71138	0.597000	0.24059	0.205000	0.20568	0.655000	0.94253	AGT		0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		110	451	0	0	0	1	0	110	451				
IGLV2-23	28813	broad.mit.edu	37	22	23040647	23040647	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23040647C>A	ENST00000390306.2	+	0	257				D86994.1_ENST00000385095.1_RNA					immunoglobulin lambda variable 2-23																		GTGTCTGGGTCTCCTGGACAG	0.597																																						ENST00000390306.2																			0																				123.0	147.0	139.0					22																	23040647		2020	4204	6224			0							g.chr22:23040647C>A	X14616		22q11.2	2012-02-08			ENSG00000211660	ENSG00000211660		"""Immunoglobulins / IGL locus"""	5890	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151234		22.37:g.23040647C>A														0	257	+									RNA	SNP	ENST00000390306.2	37																																																																																						0.597	IGLV2-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321839.2	NG_000002		46	1152	1	0	9.17885e-22	1	1.03586e-21	46	1152				
MUC16	94025	broad.mit.edu	37	19	9075035	9075035	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9075035G>T	ENST00000397910.4	-	3	12614	c.12411C>A	c.(12409-12411)ctC>ctA	p.L4137L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4139	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGCTAAAGAGAGTGGTCT	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12409-12411)ctC>ctA		mucin 16, cell surface associated							141.0	131.0	134.0					19																	9075035		2043	4182	6225	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075035G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12411C>A	19.37:g.9075035G>T							p.L4137L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12614	-			4139			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12411C>A	CCDS54212.1																																																																																				0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		62	333	1	0	1.08141e-31	1	1.27425e-31	62	333				
SERPINA5	5104	broad.mit.edu	37	14	95056472	95056472	+	Silent	SNP	C	C	T	rs369065976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95056472C>T	ENST00000554866.1	+	3	828	c.714C>T	c.(712-714)cgC>cgT	p.R238R	SERPINA5_ENST00000329597.7_Silent_p.R238R|SERPINA5_ENST00000553780.1_Silent_p.R238R|RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000554276.1_Silent_p.R238R			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	238					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGATGAGCCGCGAGGATCAGT	0.567																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(712-714)cgC>cgT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	C		0,4406		0,0,2203	86.0	78.0	81.0		714	-9.4	0.0	14		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINA5	NM_000624.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		238/407	95056472	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95056472C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.714C>T	14.37:g.95056472C>T						SERPINA5_ENST00000554866.1_Silent_p.R238R|SERPINA5_ENST00000553780.1_Silent_p.R238R|SERPINA5_ENST00000554276.1_Silent_p.R238R	p.R238R	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	4	924	+			238					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.714C>T	CCDS9928.1																																																																																				0.567	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		41	193	0	0	0	1	0	41	193				
EPHA10	284656	broad.mit.edu	37	1	38185149	38185149	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38185149C>A	ENST00000373048.4	-	15	2692	c.2693G>T	c.(2692-2694)aGc>aTc	p.S898I	EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	898	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCAGGATGCTGTGGATCTG	0.612																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2692-2694)aGc>aTc		EPH receptor A10							46.0	55.0	52.0					1																	38185149		2057	4197	6254	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38185149C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2693G>T	1.37:g.38185149C>A	ENSP00000362139:p.Ser898Ile					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I|EPHA10_ENST00000540011.1_Intron	p.S898I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			15	2692	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	898			Protein kinase.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.2693G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400763	0.62177	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.83506	-1.73;-1.73;-1.73	5.04	2.92	0.33932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.616022	0.13585	N	0.377082	D	0.82444	0.5038	L	0.57130	1.785	0.80722	D	1	P	0.45474	0.859	P	0.49829	0.623	T	0.81006	-0.1128	10	0.87932	D	0	.	5.1972	0.15245	0.0:0.6077:0.1722:0.2201	.	898	Q5JZY3	EPHAA_HUMAN	I	393;898;898	ENSP00000330379:S393I;ENSP00000397746:S898I;ENSP00000362139:S898I	ENSP00000330379:S393I	S	-	2	0	EPHA10	37957736	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.617000	0.24359	1.163000	0.42636	0.491000	0.48974	AGC		0.612	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		48	161	1	0	1.4374e-25	1	1.6504e-25	48	161				
TEX2	55852	broad.mit.edu	37	17	62223484	62223484	+	IGR	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62223484A>G	ENST00000583097.1	-	0	4852				SNORA76_ENST00000408535.2_lincRNA|SNORD104_ENST00000362883.1_RNA			Q8IWB9	TEX2_HUMAN	testis expressed 2						signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAGACTGCTGACGCGGGTGAT	0.672																																						ENST00000362883.1																			0																				52.0	62.0	59.0					17																	62223484		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr17:62223484A>G	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9			17.37:g.62223484A>G								NR_004380.1						0	42	+								Q6AHZ5|Q8N3L0|Q9C0C5	RNA	SNP	ENST00000583097.1	37																																																																																						0.672	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		85	306	0	0	0	1	0	85	306				
CNTNAP4	85445	broad.mit.edu	37	16	76569448	76569448	+	Missense_Mutation	SNP	C	C	T	rs536912652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76569448C>T	ENST00000476707.1	+	17	2910	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T848M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T872M|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.T920M			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	921	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGGTGGAACGGCCACCAGA	0.478																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2758-2760)aCg>aTg		contactin associated protein-like 4							52.0	57.0	56.0					16																	76569448		2190	4299	6489	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76569448C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2771C>T	16.37:g.76569448C>T	ENSP00000417628:p.Thr924Met					CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T848M|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T924M|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T872M	p.T920M	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			19	3144	+			921			Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2759C>T		.	.	.	.	.	.	.	.	.	.	C	23.9	4.475060	0.84640	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	D	0.000641	T	0.71178	0.3309	.	.	.	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.99;0.997	T	0.74636	-0.3599	9	0.87932	D	0	.	18.8927	0.92412	0.0:1.0:0.0:0.0	.	848;924;921	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	M	920;872;848;924	ENSP00000306893:T920M;ENSP00000439733:T872M;ENSP00000418741:T848M;ENSP00000417628:T924M	ENSP00000306893:T920M	T	+	2	0	CNTNAP4	75126949	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.651000	0.83577	2.687000	0.91594	0.655000	0.94253	ACG		0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		42	272	0	0	0	1	0	42	272				
IGLV3-22	28795	broad.mit.edu	37	22	23047022	23047022	+	RNA	SNP	C	C	T	rs575634064	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23047022C>T	ENST00000390307.2	+	0	124									immunoglobulin lambda variable 3-22 (gene/pseudogene)																		CTGTTGCCTCCTATGAGCTGA	0.547													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17668	0.0		0.0	False		,,,				2504	0.0					ENST00000390307.2																			0																				62.0	65.0	64.0					22																	23047022		1953	4144	6097			0							g.chr22:23047022C>T	Z73666		22q11.2	2012-02-08	2008-09-12		ENSG00000211661	ENSG00000211661		"""Immunoglobulins / IGL locus"""	5906	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-22"""				Standard	NG_000002		Approved				OTTHUMG00000151229		22.37:g.23047022C>T														0	124	+									RNA	SNP	ENST00000390307.2	37																																																																																						0.547	IGLV3-22-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321833.2	NG_000002		61	299	0	0	0	1	0	61	299				
CACNA1I	8911	broad.mit.edu	37	22	40036947	40036947	+	Silent	SNP	G	G	A	rs192152982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40036947G>A	ENST00000402142.3	+	6	816	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S|CACNA1I_ENST00000336649.4_Silent_p.S272S|CACNA1I_ENST00000400164.3_Silent_p.S272S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	272					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCCCTGTCGGGCGACAATG	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		21265	0.0		0.002	False		,,,				2504	0.0					ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(814-816)tcG>tcA		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	G	,	1,4181		0,1,2090	49.0	54.0	52.0		816,816	-3.2	1.0	22		52	18,8410		0,18,4196	no	coding-synonymous,coding-synonymous	CACNA1I	NM_001003406.1,NM_021096.3	,	0,19,6286	AA,AG,GG		0.2136,0.0239,0.1507	,	272/2189,272/2224	40036947	19,12591	2091	4214	6305	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40036947G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.816G>A	22.37:g.40036947G>A						CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000402142.3_Silent_p.S272S|CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S	p.S272S			Q9P0X4	CAC1I_HUMAN			8	816	+	Melanoma(58;0.0749)		272					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.816G>A	CCDS46710.1																																																																																				0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		16	155	0	0	0	1	0	16	155				
FAT1	2195	broad.mit.edu	37	4	187630410	187630410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187630410C>T	ENST00000441802.2	-	2	781	c.572G>A	c.(571-573)cGa>cAa	p.R191Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATATCTGTTCGATCTTTAAA	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(571-573)cGa>cAa		FAT atypical cadherin 1							117.0	118.0	118.0					4																	187630410		2109	4247	6356	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630410C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.572G>A	4.37:g.187630410C>T	ENSP00000406229:p.Arg191Gln	HNSCC(5;0.00058)					p.R191Q	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	781	-			191			Cadherin 2.			Missense_Mutation	SNP	ENST00000441802.2	37	c.572G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388905	0.82902	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60299	0.2;0.2	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.123299	0.56097	D	0.000030	T	0.54902	0.1887	N	0.19112	0.55	0.47476	D	0.999434	D	0.59767	0.986	P	0.54590	0.756	T	0.46247	-0.9205	10	0.14252	T	0.57	.	18.5053	0.90894	0.0:1.0:0.0:0.0	.	191	Q14517	FAT1_HUMAN	Q	191	ENSP00000406229:R191Q;ENSP00000423736:R191Q	ENSP00000260147:R191Q	R	-	2	0	FAT1	187867404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.909000	0.56363	2.704000	0.92352	0.591000	0.81541	CGA		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		61	459	0	0	0	1	0	61	459				
TYW1B	441250	broad.mit.edu	37	7	72277809	72277809	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72277809G>A	ENST00000435769.2	-	0	695				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GCAGCTGGGAGATGAACTTGG	0.537																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							113.0	98.0	103.0					7																	72277809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72277809G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277809G>A										Q6NUM6	TYW1B_HUMAN			0	336	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.537	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		15	148	0	0	0	1	0	15	148				
HERC3	8916	broad.mit.edu	37	4	89571092	89571092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89571092G>A	ENST00000402738.1	+	4	567	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HERC3_ENST00000407637.1_Missense_Mutation_p.A110T|HERC3_ENST00000264345.3_Missense_Mutation_p.A110T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCTTGGGGTGCAGGGAGTGA	0.498																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(328-330)Gca>Aca		HECT and RLD domain containing E3 ubiquitin protein ligase 3							150.0	145.0	147.0					4																	89571092		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89571092G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.328G>A	4.37:g.89571092G>A	ENSP00000385684:p.Ala110Thr					HERC3_ENST00000407637.1_Missense_Mutation_p.A110T|HERC3_ENST00000264345.3_Missense_Mutation_p.A110T	p.A110T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	4	567	+			110					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.328G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770586	0.49680	.	.	ENSG00000138641	ENST00000402738;ENST00000431413;ENST00000407637;ENST00000426683;ENST00000452979;ENST00000264345	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.32	5.32	0.75619	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.054047	0.64402	D	0.000001	D	0.86952	0.6057	L	0.41492	1.28	0.80722	D	1	B;D	0.67145	0.372;0.996	B;P	0.61070	0.216;0.883	D	0.85247	0.1042	9	.	.	.	.	14.0809	0.64922	0.0:0.0:0.8496:0.1504	.	110;110	Q15034;Q8IXX3	HERC3_HUMAN;.	T	110	ENSP00000385684:A110T;ENSP00000405863:A110T;ENSP00000384005:A110T;ENSP00000389991:A110T;ENSP00000406210:A110T;ENSP00000264345:A110T	.	A	+	1	0	HERC3	89790115	0.937000	0.31787	1.000000	0.80357	0.997000	0.91878	2.734000	0.47368	2.772000	0.95346	0.650000	0.86243	GCA		0.498	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		102	437	0	0	0	1	0	102	437				
FSIP2	401024	broad.mit.edu	37	2	186678279	186678279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186678279C>T	ENST00000424728.1	+	18	19835	c.19835C>T	c.(19834-19836)gCt>gTt	p.A6612V	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6701V			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6612										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGGCCGTTGCTAGAAATTCA	0.284																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(20101-20103)gCt>gTt		fibrous sheath interacting protein 2							30.0	29.0	29.0					2																	186678279		1797	4061	5858	SO:0001583	missense	401024							g.chr2:186678279C>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19835C>T	2.37:g.186678279C>T	ENSP00000401306:p.Ala6612Val					FSIP2_ENST00000424728.1_Missense_Mutation_p.A6612V	p.A6701V	NM_173651.2	NP_775922.2					18	20102	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.20102C>T		.	.	.	.	.	.	.	.	.	.	C	10.96	1.498684	0.26861	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47528	0.84;0.84	5.28	4.4	0.53042	.	0.657980	0.14932	N	0.290028	T	0.38453	0.1041	N	0.22421	0.69	0.18873	N	0.999984	.	.	.	.	.	.	T	0.25047	-1.0143	8	0.29301	T	0.29	.	11.9003	0.52680	0.0:0.1782:0.8218:0.0	.	.	.	.	V	6701;6612	ENSP00000344403:A6701V;ENSP00000401306:A6612V	ENSP00000344403:A6701V	A	+	2	0	FSIP2	186386524	1.000000	0.71417	0.196000	0.23383	0.000000	0.00434	3.393000	0.52544	1.462000	0.47948	-0.280000	0.10049	GCT		0.284	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		23	81	0	0	0	1	0	23	81				
CNTN4	152330	broad.mit.edu	37	3	2908487	2908487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2908487G>A	ENST00000397461.1	+	7	890	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	169	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGGATAATCGCCGCTTTGTT	0.388																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(505-507)cGc>cAc		contactin 4							139.0	128.0	131.0					3																	2908487		1830	4084	5914	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2908487G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.506G>A	3.37:g.2908487G>A	ENSP00000380602:p.Arg169His					CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000358480.3_5'UTR	p.R169H	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	7	890	+		Ovarian(110;0.156)	169			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.506G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305748	0.95601	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	D;D;D	0.81659	-1.52;-1.52;-1.52	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92645	0.6128	10	0.87932	D	0	.	19.0488	0.93034	0.0:0.0:1.0:0.0	.	169;169	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	H	169	ENSP00000396010:R169H;ENSP00000380602:R169H;ENSP00000413642:R169H	ENSP00000380602:R169H	R	+	2	0	CNTN4	2883487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.640000	0.98453	2.489000	0.83994	0.655000	0.94253	CGC		0.388	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			99	575	0	0	0	1	0	99	575				
GRM1	2911	broad.mit.edu	37	6	146720792	146720792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720792C>T	ENST00000282753.1	+	7	2852	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	GRM1_ENST00000361719.2_Missense_Mutation_p.L873F|GRM1_ENST00000392299.2_Missense_Mutation_p.L873F|GRM1_ENST00000355289.4_Missense_Mutation_p.L873F|GRM1_ENST00000507907.1_Missense_Mutation_p.L873F|GRM1_ENST00000492807.2_Missense_Mutation_p.L873F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	873					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAACACTTTCCTCAACATCTT	0.517																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2617-2619)Ctc>Ttc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						37.0	33.0	35.0					6																	146720792		2196	4286	6482	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720792C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2617C>T	6.37:g.146720792C>T	ENSP00000282753:p.Leu873Phe					GRM1_ENST00000492807.2_Missense_Mutation_p.L873F|GRM1_ENST00000282753.1_Missense_Mutation_p.L873F|GRM1_ENST00000507907.1_Missense_Mutation_p.L873F|GRM1_ENST00000355289.4_Missense_Mutation_p.L873F|GRM1_ENST00000361719.2_Missense_Mutation_p.L873F	p.L873F			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3087	+		Ovarian(120;0.0387)	873					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2617C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752399	0.89753	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88664	-2.34;-2.35;-2.35;-2.34;-2.41;-2.35	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.994	P;D;P	0.80764	0.802;0.994;0.837	D	0.91532	0.5243	10	0.39692	T	0.17	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	873;873;873	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	F	873	ENSP00000354896:L873F;ENSP00000376119:L873F;ENSP00000424095:L873F;ENSP00000282753:L873F;ENSP00000347437:L873F;ENSP00000425599:L873F	ENSP00000282753:L873F	L	+	1	0	GRM1	146762485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.087000	0.71362	2.686000	0.91538	0.585000	0.79938	CTC		0.517	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		25	139	0	0	0	1	0	25	139				
RELN	5649	broad.mit.edu	37	7	103197551	103197551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103197551G>A	ENST00000428762.1	-	38	5829	c.5670C>T	c.(5668-5670)atC>atT	p.I1890I	RELN_ENST00000343529.5_Silent_p.I1890I|RELN_ENST00000424685.2_Silent_p.I1890I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1890					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGCCAAGTGATTCCTCCAC	0.383																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5668-5670)atC>atT		reelin							134.0	125.0	128.0					7																	103197551		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103197551G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5670C>T	7.37:g.103197551G>A						RELN_ENST00000343529.5_Silent_p.I1890I|RELN_ENST00000424685.2_Silent_p.I1890I	p.I1890I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	38	5829	-			1890					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5670C>T	CCDS47680.1																																																																																				0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		64	304	0	0	0	1	0	64	304				
GPT	2875	broad.mit.edu	37	8	145729820	145729820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145729820G>T	ENST00000528431.1	+	2	290	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	GPT_ENST00000394955.2_Missense_Mutation_p.A45S			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	45					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	AGTGCAGCGAGCCTTGGAGCT	0.682																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(133-135)Gcc>Tcc		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						89.0	77.0	81.0					8																	145729820		2201	4297	6498	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145729820G>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.133G>T	8.37:g.145729820G>T	ENSP00000433586:p.Ala45Ser					GPT_ENST00000528431.1_Missense_Mutation_p.A45S	p.A45S	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		1	356	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		45					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.133G>T	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672382	0.88348	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.45668	0.89;0.89	5.04	4.1	0.47936	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.48260	1.515	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.87578	0.998;0.839	T	0.56944	-0.7895	10	0.62326	D	0.03	-27.8924	12.9533	0.58413	0.0:0.1643:0.8357:0.0	.	45;45	B4DPT5;P24298	.;ALAT1_HUMAN	S	45	ENSP00000433586:A45S;ENSP00000378408:A45S	ENSP00000378408:A45S	A	+	1	0	GPT	145700628	0.867000	0.29959	0.927000	0.36925	0.861000	0.49209	4.128000	0.57951	2.519000	0.84933	0.561000	0.74099	GCC		0.682	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			10	140	1	0	2.17888e-05	1	2.22852e-05	10	140				
TEP1	7011	broad.mit.edu	37	14	20850180	20850180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20850180C>T	ENST00000262715.5	-	30	4356	c.4316G>A	c.(4315-4317)cGg>cAg	p.R1439Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1331Q|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTAGTGTCCGCCACACACT	0.597																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(4315-4317)cGg>cAg		telomerase-associated protein 1							137.0	112.0	121.0					14																	20850180		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20850180C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4316G>A	14.37:g.20850180C>T	ENSP00000262715:p.Arg1439Gln					TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.R1331Q	p.R1439Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	30	4356	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1439			NACHT.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.4316G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	9.610	1.131068	0.21041	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.47177	0.89;0.85	5.22	-1.1	0.09872	.	1.168410	0.06032	N	0.653340	T	0.32823	0.0842	L	0.48362	1.52	0.09310	N	0.999999	B;B;B	0.23490	0.086;0.009;0.052	B;B;B	0.12837	0.008;0.005;0.003	T	0.16630	-1.0396	10	0.22706	T	0.39	-6.439	0.6813	0.00875	0.1717:0.3262:0.1566:0.3455	.	1331;782;1439	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1439;1439;1331	ENSP00000262715:R1439Q;ENSP00000452574:R1331Q	ENSP00000262715:R1439Q	R	-	2	0	TEP1	19920020	0.000000	0.05858	0.002000	0.10522	0.832000	0.47134	-0.892000	0.04131	-0.080000	0.12685	0.462000	0.41574	CGG		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		55	272	0	0	0	1	0	55	272				
KIAA1614	57710	broad.mit.edu	37	1	180904637	180904637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904637G>A	ENST00000367588.4	+	5	1647	c.1592G>A	c.(1591-1593)gGc>gAc	p.G531D	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G152D	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	531										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCGGCACCGGGCAGCGAGAGG	0.756																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1591-1593)gGc>gAc		KIAA1614							3.0	5.0	4.0					1																	180904637		1593	3494	5087	SO:0001583	missense	57710							g.chr1:180904637G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1592G>A	1.37:g.180904637G>A	ENSP00000356560:p.Gly531Asp					KIAA1614_ENST00000367587.1_Missense_Mutation_p.G152D	p.G531D	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1647	+			531					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1592G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	g	8.543	0.873767	0.17322	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.22743	2.48;1.94	4.82	-0.878	0.10617	.	1.322710	0.05186	N	0.502289	T	0.10594	0.0259	L	0.28274	0.84	0.25097	N	0.990811	B	0.11235	0.004	B	0.09377	0.004	T	0.22906	-1.0203	9	0.06494	T	0.89	-3.6239	1.1462	0.01776	0.4344:0.263:0.1516:0.151	.	531	Q5VZ46	K1614_HUMAN	D	531;152	ENSP00000356560:G531D;ENSP00000356559:G152D	ENSP00000356559:G152D	G	+	2	0	KIAA1614	179171260	0.000000	0.05858	0.002000	0.10522	0.093000	0.18481	0.013000	0.13310	-0.270000	0.09285	0.457000	0.33378	GGC		0.756	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	58	0	0	0	1	0	11	58				
OR5A1	219982	broad.mit.edu	37	11	59211133	59211133	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211133C>T	ENST00000302030.2	+	1	517	c.492C>T	c.(490-492)agC>agT	p.S164S		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TCCAGGCCAGCTCCATATTTA	0.557																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(490-492)agC>agT		olfactory receptor, family 5, subfamily A, member 1							264.0	255.0	258.0					11																	59211133		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211133C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.492C>T	11.37:g.59211133C>T							p.S164S	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	517	+			164					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.492C>T	CCDS31561.1																																																																																				0.557	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		19	1604	0	0	0	1	0	19	1604				
SLC2A13	114134	broad.mit.edu	37	12	40499124	40499124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40499124C>T	ENST00000280871.4	-	1	537	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	163					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCAGCACCGCGGAGCCGGCG	0.741										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(487-489)Gcg>Acg		solute carrier family 2 (facilitated glucose transporter), member 13							7.0	9.0	8.0					12																	40499124		2136	4185	6321	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40499124C>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.487G>A	12.37:g.40499124C>T	ENSP00000280871:p.Ala163Thr	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	p.A163T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			1	537	-		Lung NSC(34;0.105)|all_lung(34;0.123)	163					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.487G>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419577	0.62622	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.60299	0.2;0.2	3.5	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.623406	0.15357	N	0.266630	T	0.45816	0.1361	L	0.39467	1.215	0.29254	N	0.871781	P;P	0.47545	0.539;0.897	B;B	0.40444	0.329;0.329	T	0.43653	-0.9378	10	0.66056	D	0.02	-0.7911	9.3766	0.38286	0.0:0.8243:0.0:0.1757	.	163;163	Q96QE2;E9PE47	MYCT_HUMAN;.	T	163	ENSP00000280871:A163T;ENSP00000370239:A163T	ENSP00000280871:A163T	A	-	1	0	SLC2A13	38785391	0.868000	0.29978	0.962000	0.40283	0.910000	0.53928	0.216000	0.17585	0.202000	0.20498	0.462000	0.41574	GCG		0.741	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			13	62	0	0	0	1	0	13	62				
SLC4A5	57835	broad.mit.edu	37	2	74491293	74491293	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491293C>T	ENST00000377634.4	-	10	1095	c.696G>A	c.(694-696)ggG>ggA	p.G232G	SLC4A5_ENST00000423644.1_Silent_p.G232G|SLC4A5_ENST00000346834.4_Silent_p.G232G|SLC4A5_ENST00000358683.4_Silent_p.G168G|SLC4A5_ENST00000357822.5_Silent_p.G232G|SLC4A5_ENST00000359484.4_Silent_p.G168G|SLC4A5_ENST00000377632.1_Silent_p.G232G|SLC4A5_ENST00000394019.2_Silent_p.G232G|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGACTGACTTCCCAATGTCAG	0.612																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(694-696)ggG>ggA		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							167.0	140.0	149.0					2																	74491293		2203	4300	6503	SO:0001819	synonymous_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491293C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.696G>A	2.37:g.74491293C>T						SLC4A5_ENST00000423644.1_Silent_p.G232G|SLC4A5_ENST00000359484.4_Silent_p.G168G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Silent_p.G232G|SLC4A5_ENST00000377632.1_Silent_p.G232G|SLC4A5_ENST00000377634.4_Silent_p.G232G|SLC4A5_ENST00000358683.4_Silent_p.G168G|SLC4A5_ENST00000357822.5_Silent_p.G232G	p.G232G	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	1093	-			232						Silent	SNP	ENST00000377634.4	37	c.696G>A	CCDS1936.1																																																																																				0.612	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			6	241	0	0	0	1	0	6	241				
DOPEY2	9980	broad.mit.edu	37	21	37617836	37617836	+	Silent	SNP	G	G	A	rs529578047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617836G>A	ENST00000399151.3	+	19	3643	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1186					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGACAAGACGCAGGCTTCTG	0.642																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3556-3558)acG>acA		dopey family member 2							38.0	40.0	40.0					21																	37617836		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617836G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3558G>A	21.37:g.37617836G>A							p.T1186T	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3643	+			1186					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.3558G>A	CCDS13643.1																																																																																				0.642	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		52	213	0	0	0	1	0	52	213				
GPR25	2848	broad.mit.edu	37	1	200842741	200842741	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842741C>T	ENST00000304244.2	+	1	659	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	192					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCAGTGCGGCGAGGAGCCCT	0.711																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(574-576)ggC>ggT		G protein-coupled receptor 25							8.0	9.0	8.0					1																	200842741		2031	4016	6047	SO:0001819	synonymous_variant	2848					integral to plasma membrane		g.chr1:200842741C>T	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.576C>T	1.37:g.200842741C>T							p.G192G	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	659	+			192					A0AVJ5	Silent	SNP	ENST00000304244.2	37	c.576C>T	CCDS1405.1																																																																																				0.711	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		10	131	0	0	0	1	0	10	131				
FOPNL	123811	broad.mit.edu	37	16	15982427	15982427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15982427C>T	ENST00000255759.6	-	1	45	c.16G>A	c.(16-18)Gag>Aag	p.E6K	CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000573396.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575744.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575073.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573968.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573429.1_Missense_Mutation_p.E6K	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	6	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						GCCTTCAACTCTGCCACAGTC	0.657																																						ENST00000255759.6																			0				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						c.(16-18)Gag>Aag		FGFR1OP N-terminal like							34.0	37.0	36.0					16																	15982427		2197	4300	6497	SO:0001583	missense	123811				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	g.chr16:15982427C>T	AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"""pluripotent embryonic stem cell-related protein"", ""FOP-related protein of 20 kDa"""		"""chromosome 16 open reading frame 63"""	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.16G>A	16.37:g.15982427C>T	ENSP00000255759:p.Glu6Lys					FOPNL_ENST00000573396.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573429.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575744.1_Missense_Mutation_p.E6K|FOPNL_ENST00000575073.1_Missense_Mutation_p.E6K|FOPNL_ENST00000573968.1_Missense_Mutation_p.E6K	p.E6K	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN			1	45	-			6			Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.		B3KPU9	Missense_Mutation	SNP	ENST00000255759.6	37	c.16G>A	CCDS10567.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561668	0.65538	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.63	5.63	0.86233	.	0.110116	0.64402	D	0.000010	T	0.74253	0.3692	M	0.65498	2.005	0.51233	D	0.999917	P;D	0.65815	0.919;0.995	B;P	0.57244	0.324;0.816	T	0.75190	-0.3405	9	0.56958	D	0.05	0.8445	17.212	0.86932	0.0:1.0:0.0:0.0	.	6;6	B3KPU9;Q96NB1	.;FOPNL_HUMAN	K	6	.	ENSP00000255759:E6K	E	-	1	0	FOPNL	15889928	0.997000	0.39634	0.950000	0.38849	0.031000	0.12232	3.902000	0.56310	2.826000	0.97356	0.655000	0.94253	GAG		0.657	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2	NM_144600		44	233	0	0	0	1	0	44	233				
TMEM261	90871	broad.mit.edu	37	9	7799610	7799610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799610C>T	ENST00000358227.4	-	1	457	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	42						integral component of membrane (GO:0016021)											CTTCAACAGGCGGTGTTCTGC	0.662																																						ENST00000358227.4																			0				lung(1)	1						c.(124-126)cGc>cAc									35.0	39.0	37.0					9																	7799610		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr9:7799610C>T	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 123"""	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.125G>A	9.37:g.7799610C>T	ENSP00000350961:p.Arg42His					C9orf123_ENST00000484082.1_Intron	p.R42H	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	457	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	42					A8K9B7|Q5T6Y9|Q9NT74	Missense_Mutation	SNP	ENST00000358227.4	37	c.125G>A	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	c	12.13	1.844786	0.32606	.	.	ENSG00000137038	ENST00000358227	T	0.44881	0.91	5.34	-2.99	0.05497	.	2.017540	0.02346	N	0.075365	T	0.27098	0.0664	L	0.36672	1.1	0.09310	N	1	P;P	0.51791	0.899;0.948	B;B	0.36030	0.216;0.216	T	0.34925	-0.9809	10	0.34782	T	0.22	-28.4694	5.3663	0.16115	0.0676:0.415:0.1997:0.3176	.	42;42	Q96GE9-2;Q96GE9	.;CI123_HUMAN	H	42	ENSP00000350961:R42H	ENSP00000350961:R42H	R	-	2	0	C9orf123	7789610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.195000	0.09546	-0.638000	0.05509	-2.040000	0.00418	CGC		0.662	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1	NM_033428		65	265	0	0	0	1	0	65	265				
FZD1	8321	broad.mit.edu	37	7	90896026	90896026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90896026C>A	ENST00000287934.2	+	1	2244	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	611					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTTATGACGCTGATCGTGGG	0.617																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1831-1833)Ctg>Atg		frizzled family receptor 1							35.0	39.0	37.0					7																	90896026		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90896026C>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1831C>A	7.37:g.90896026C>A	ENSP00000287934:p.Leu611Met						p.L611M	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2244	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		611					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1831C>A	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572397	0.45798	.	.	ENSG00000157240	ENST00000287934	D	0.86497	-2.13	4.91	4.03	0.46877	GPCR, family 2-like (1);	0.000000	0.51477	D	0.000100	D	0.85026	0.5603	L	0.56199	1.76	0.46222	D	0.998932	P	0.40638	0.725	P	0.48738	0.588	T	0.81125	-0.1075	10	0.30854	T	0.27	.	4.55	0.12107	0.0:0.716:0.0:0.284	.	611	Q9UP38	FZD1_HUMAN	M	611	ENSP00000287934:L611M	ENSP00000287934:L611M	L	+	1	2	FZD1	90733962	0.703000	0.27826	0.994000	0.49952	0.899000	0.52679	0.771000	0.26633	2.709000	0.92574	0.655000	0.94253	CTG		0.617	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		68	296	1	0	2.81305e-35	1	3.35631e-35	68	296				
MYO3B	140469	broad.mit.edu	37	2	171243770	171243770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171243770G>T	ENST00000408978.4	+	14	1672	c.1529G>T	c.(1528-1530)aGa>aTa	p.R510I	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000334231.6_Missense_Mutation_p.R519I	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	510	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGGGGGCAAGAATCTCTGAA	0.438																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1555-1557)aGa>aTa		myosin IIIB							86.0	83.0	84.0					2																	171243770		1882	4134	6016	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171243770G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1529G>T	2.37:g.171243770G>T	ENSP00000386213:p.Arg510Ile					MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.R510I	p.R519I			Q8WXR4	MYO3B_HUMAN			14	1556	+			510			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1556G>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875148	0.51695	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.9	4.92	0.64577	Myosin head, motor domain (2);	0.041372	0.85682	D	0.000000	D	0.83644	0.5299	L	0.37466	1.105	0.58432	D	0.999998	P;B;P	0.44380	0.801;0.108;0.834	P;B;P	0.52598	0.476;0.061;0.703	T	0.79688	-0.1699	10	0.27785	T	0.31	.	3.9069	0.09186	0.3188:0.0:0.6812:0.0	.	510;510;510	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	I	510;510;509;519;519	ENSP00000386497:R510I;ENSP00000386213:R510I;ENSP00000446237:R519I;ENSP00000335100:R519I	ENSP00000314213:R509I	R	+	2	0	MYO3B	170952016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.470000	0.66756	2.793000	0.96121	0.563000	0.77884	AGA		0.438	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			88	437	1	0	5.78178e-49	1	7.14446e-49	88	437				
TRBV7-8	28590	broad.mit.edu	37	7	142099627	142099627	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142099627C>A	ENST00000390359.3	-	0	213									T cell receptor beta variable 7-8																		GGCCCCTGCCCCAGGGCCTGT	0.512																																						ENST00000390359.3																			0																				64.0	64.0	64.0					7																	142099627		1852	4121	5973			0							g.chr7:142099627C>A	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099627C>A														0	213	-									RNA	SNP	ENST00000390359.3	37																																																																																						0.512	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		48	279	1	0	3.21987e-24	1	3.67739e-24	48	279				
DISP1	84976	broad.mit.edu	37	1	223176548	223176548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223176548C>T	ENST00000284476.6	+	8	1973	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	603	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCTTGCAGCACGCTGCCCTCT	0.448																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1807-1809)caC>caT		dispatched homolog 1 (Drosophila)							162.0	147.0	152.0					1																	223176548		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176548C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1809C>T	1.37:g.223176548C>T							p.H603H	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1973	+			603			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.1809C>T	CCDS1536.1																																																																																				0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		55	514	0	0	0	1	0	55	514				
BEND2	139105	broad.mit.edu	37	X	18221838	18221838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18221838G>A	ENST00000380033.4	-	5	822	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BEND2_ENST00000380030.3_Silent_p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	230								p.F230F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATGGCATACCGAAACAAGGAA	0.453																																						ENST00000380033.4																			1	Substitution - coding silent(1)	p.F230F(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(688-690)ttC>ttT		BEN domain containing 2							168.0	135.0	146.0					X																	18221838		2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18221838G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.690C>T	X.37:g.18221838G>A						BEND2_ENST00000380030.3_Silent_p.F230F	p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			5	822	-			230					E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.690C>T	CCDS14184.1																																																																																				0.453	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		116	395	0	0	0	1	0	116	395				
ADH1A	124	broad.mit.edu	37	4	100205930	100205930	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100205930T>C	ENST00000209668.2	-	4	403	c.290A>G	c.(289-291)cAg>cGg	p.Q97R	ADH1A_ENST00000511656.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	97					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTTCCACACTGAGGAATAGC	0.403																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(289-291)cAg>cGg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						96.0	92.0	94.0					4																	100205930		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205930T>C	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.290A>G	4.37:g.100205930T>C	ENSP00000209668:p.Gln97Arg					RP11-696N14.1_ENST00000500358.2_RNA	p.Q97R	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	4	403	-			97					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.290A>G	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023259	0.54683	.	.	ENSG00000187758	ENST00000209668	T	0.04758	3.56	3.51	3.51	0.40186	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00670	-1.1617	10	0.87932	D	0	-18.8157	12.3143	0.54946	0.0:0.0:0.0:1.0	.	97	P07327	ADH1A_HUMAN	R	97	ENSP00000209668:Q97R	ENSP00000209668:Q97R	Q	-	2	0	ADH1A	100424953	1.000000	0.71417	0.981000	0.43875	0.348000	0.29142	5.514000	0.67043	1.354000	0.45846	0.377000	0.23210	CAG		0.403	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		10	280	0	0	0	1	0	10	280				
SGCE	8910	broad.mit.edu	37	7	94228093	94228093	+	Missense_Mutation	SNP	G	G	A	rs560154922	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94228093G>A	ENST00000265735.7	-	9	1357	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000415788.2_Missense_Mutation_p.T452M|SGCE_ENST00000428696.2_Missense_Mutation_p.T407M	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	416					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTGCTGCGTTTGCATCAA	0.398													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16101	0.0		0.0	False		,,,				2504	0.001					ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(1354-1356)aCg>aTg		sarcoglycan, epsilon							202.0	184.0	190.0					7																	94228093		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94228093G>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1247C>T	7.37:g.94228093G>A	ENSP00000265735:p.Thr416Met					SGCE_ENST00000265735.7_Missense_Mutation_p.T416M|SGCE_ENST00000428696.2_Missense_Mutation_p.T407M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M	p.T452M			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		10	1442	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		416					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.1355C>T	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148267	0.78001	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.21	5.21	0.72293	.	0.045801	0.85682	D	0.000000	D	0.98055	0.9359	L	0.44542	1.39	0.58432	D	0.999996	D;D;D;P;P;D	0.89917	1.0;1.0;0.998;0.916;0.919;0.997	D;D;P;P;P;D	0.91635	0.999;0.971;0.88;0.616;0.714;0.91	D	0.99246	1.0886	10	0.62326	D	0.03	-20.0409	19.1279	0.93393	0.0:0.0:1.0:0.0	.	452;375;407;416;416;407	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	M	416;416;375;407;407;452	ENSP00000265735:T416M;ENSP00000398930:T416M;ENSP00000394061:T375M;ENSP00000388734:T407M;ENSP00000397536:T407M;ENSP00000405313:T452M	ENSP00000265735:T416M	T	-	2	0	SGCE	94066029	1.000000	0.71417	0.857000	0.33713	0.893000	0.52053	9.297000	0.96120	2.608000	0.88229	0.650000	0.86243	ACG		0.398	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			125	505	0	0	0	1	0	125	505				
C8orf34	116328	broad.mit.edu	37	8	69445334	69445334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:69445334C>A	ENST00000539993.1	+	7	1346	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y|C8orf34_ENST00000337103.4_Missense_Mutation_p.S241Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	266										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTACCCCATCTGTAACAGAA	0.353																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(721-723)tCt>tAt		chromosome 8 open reading frame 34							114.0	112.0	113.0					8																	69445334		2203	4299	6502	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69445334C>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.797C>A	8.37:g.69445334C>A	ENSP00000438159:p.Ser266Tyr					C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y|C8orf34_ENST00000539993.1_Missense_Mutation_p.S266Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y	p.S241Y			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		6	2314	+			266					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.722C>A		.	.	.	.	.	.	.	.	.	.	C	12.65	2.001855	0.35320	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.54279	0.58;0.62;0.6	5.54	3.76	0.43208	.	0.237331	0.44902	D	0.000405	T	0.62514	0.2434	L	0.60455	1.87	0.34619	D	0.718399	B;D	0.63880	0.156;0.993	B;P	0.59487	0.106;0.858	T	0.71196	-0.4664	9	.	.	.	-3.4848	11.9284	0.52833	0.0:0.8589:0.0:0.1411	.	266;266	Q49A92;Q49A92-3	CH034_HUMAN;.	Y	352;266;266;241	ENSP00000427820:S352Y;ENSP00000438159:S266Y;ENSP00000337174:S241Y	.	S	+	2	0	C8orf34	69607888	1.000000	0.71417	0.949000	0.38748	0.758000	0.43043	5.291000	0.65667	0.721000	0.32231	-0.229000	0.12294	TCT		0.353	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		93	469	1	0	2.608e-42	1	3.17499e-42	93	469				
ZNF713	349075	broad.mit.edu	37	7	56007462	56007462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56007462C>T	ENST00000429591.2	+	4	1094	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GACTTCATACCGGAGAGAAAC	0.408																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1054-1056)acC>acT		zinc finger protein 713							74.0	77.0	76.0					7																	56007462		2203	4300	6503	SO:0001819	synonymous_variant	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007462C>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1056C>T	7.37:g.56007462C>T						MRPS17_ENST00000426595.1_Intron	p.T352T	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	1094	+	Breast(14;0.214)		352						Silent	SNP	ENST00000429591.2	37	c.1056C>T	CCDS34639.1																																																																																				0.408	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		76	430	0	0	0	1	0	76	430				
SLCO3A1	28232	broad.mit.edu	37	15	92459678	92459678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459678G>A	ENST00000318445.6	+	2	850	c.636G>A	c.(634-636)tcG>tcA	p.S212S	SLCO3A1_ENST00000424469.2_Silent_p.S212S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	212					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AGGACTCCTCGCTCTATATAG	0.582																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(634-636)tcG>tcA		solute carrier organic anion transporter family, member 3A1							14.0	16.0	15.0					15																	92459678		2197	4297	6494	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459678G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.636G>A	15.37:g.92459678G>A						SLCO3A1_ENST00000424469.2_Silent_p.S212S	p.S212S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	850	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		212					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.636G>A	CCDS10371.1																																																																																				0.582	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		20	65	0	0	0	1	0	20	65				
DBP	1628	broad.mit.edu	37	19	49134254	49134254	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134254C>T	ENST00000222122.5	-	4	1261	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DBP_ENST00000593500.1_Missense_Mutation_p.R71H|DBP_ENST00000599385.1_Missense_Mutation_p.R71H	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	273	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCGGGCGTCACGGGACCGCTT	0.642																																						ENST00000222122.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(817-819)cGt>cAt		D site of albumin promoter (albumin D-box) binding protein							31.0	32.0	32.0					19																	49134254		2203	4300	6503	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49134254C>T	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.818G>A	19.37:g.49134254C>T	ENSP00000222122:p.Arg273His					DBP_ENST00000599385.1_Missense_Mutation_p.R71H|DBP_ENST00000593500.1_Missense_Mutation_p.R71H	p.R273H	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	4	1261	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	273					A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.818G>A	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809129	0.90707	.	.	ENSG00000105516	ENST00000222122	T	0.72167	-0.63	4.81	4.81	0.61882	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	U	0.000000	D	0.89612	0.6765	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93238	0.6623	10	0.87932	D	0	-16.2193	15.7386	0.77866	0.0:1.0:0.0:0.0	.	273	Q10586	DBP_HUMAN	H	273	ENSP00000222122:R273H	ENSP00000222122:R273H	R	-	2	0	DBP	53826066	1.000000	0.71417	0.794000	0.32065	0.938000	0.57974	5.689000	0.68234	2.364000	0.80123	0.563000	0.77884	CGT		0.642	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		32	111	0	0	0	1	0	32	111				
ANKRD17	26057	broad.mit.edu	37	4	74124155	74124155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124155G>A	ENST00000358602.4	-	1	347	c.231C>T	c.(229-231)aaC>aaT	p.N77N	ANKRD17_ENST00000330838.6_Silent_p.N77N|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	77					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCAAGTCCGGTTACGCTTGG	0.697																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(229-231)aaC>aaT		ankyrin repeat domain 17							28.0	28.0	28.0					4																	74124155		2201	4299	6500	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124155G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.231C>T	4.37:g.74124155G>A						ANKRD17_ENST00000330838.6_Silent_p.N77N	p.N77N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	347	-	Breast(15;0.000295)		77					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.231C>T	CCDS34004.1																																																																																				0.697	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		25	149	0	0	0	1	0	25	149				
CAMTA2	23125	broad.mit.edu	37	17	4872557	4872557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4872557G>A	ENST00000348066.3	-	21	3481	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*|SPAG7_ENST00000573366.1_5'Flank|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.R1119*	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1120	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGCTGAAATCGCTTCTGTTCA	0.627																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(3355-3357)Cga>Tga		calmodulin binding transcription activator 2							54.0	62.0	60.0					17																	4872557		2203	4299	6502	SO:0001587	stop_gained	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4872557G>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3358C>T	17.37:g.4872557G>A	ENSP00000321813:p.Arg1120*					CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*|CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.R1120*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*	p.R1119*	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			20	3766	-			1120			IQ 2.		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Nonsense_Mutation	SNP	ENST00000348066.3	37	c.3355C>T	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	41	8.559694	0.98863	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.21	3.23	0.37069	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6456	11.2237	0.48871	0.0:0.0:0.8164:0.1836	.	.	.	.	X	1143;1115;1119;1113;1120	.	ENSP00000321813:R1120X	R	-	1	2	CAMTA2	4813281	0.037000	0.19845	0.997000	0.53966	0.994000	0.84299	0.178000	0.16820	0.969000	0.38237	0.563000	0.77884	CGA		0.627	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		17	575	0	0	0	1	0	17	575				
ABCA6	23460	broad.mit.edu	37	17	67119474	67119474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67119474C>T	ENST00000284425.2	-	10	1516	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	448					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAACCTTAGCATTAGTCCTT	0.373																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1342-1344)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 6							112.0	108.0	109.0					17																	67119474		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67119474C>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1342G>A	17.37:g.67119474C>T	ENSP00000284425:p.Ala448Thr						p.A448T	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			10	1516	-	Breast(10;5.65e-12)		448					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1342G>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	2.636	-0.285178	0.05605	.	.	ENSG00000154262	ENST00000284425	D	0.86562	-2.14	4.12	-2.43	0.06522	.	1.589470	0.03812	N	0.266052	T	0.71995	0.3406	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56068	-0.8040	10	0.15499	T	0.54	.	1.2143	0.01911	0.1465:0.263:0.1367:0.4539	.	448	Q8N139	ABCA6_HUMAN	T	448	ENSP00000284425:A448T	ENSP00000284425:A448T	A	-	1	0	ABCA6	64631069	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-0.144000	0.10280	-0.513000	0.06496	-0.264000	0.10439	GCT		0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		45	207	0	0	0	1	0	45	207				
TUBA4A	7277	broad.mit.edu	37	2	220116407	220116407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220116407C>T	ENST00000248437.4	-	3	428	c.255G>A	c.(253-255)caG>caA	p.Q85Q	TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q70Q	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	85					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GGTGGAAGAGCTGTCGGTATG	0.547																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(208-210)caG>caA		tubulin, alpha 4a							93.0	84.0	87.0					2																	220116407		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116407C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.255G>A	2.37:g.220116407C>T						TUBA4A_ENST00000248437.4_Silent_p.Q85Q|TUBA4A_ENST00000498660.1_5'UTR	p.Q70Q	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	765	-		Renal(207;0.0474)	85					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.210G>A	CCDS2438.1																																																																																				0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		55	261	0	0	0	1	0	55	261				
STAR	6770	broad.mit.edu	37	8	38006170	38006170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006170C>T	ENST00000276449.4	-	2	613	c.167G>A	c.(166-168)aGc>aAc	p.S56N	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	56					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGTAGAGAGCTCCGCCGCCG	0.642																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(166-168)aGc>aAc		steroidogenic acute regulatory protein							44.0	47.0	46.0					8																	38006170		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38006170C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.167G>A	8.37:g.38006170C>T	ENSP00000276449:p.Ser56Asn						p.S56N	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	613	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	56					Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.167G>A	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.55|19.55	3.848541|3.848541	0.71603|0.71603	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000522050|ENST00000276449	.|D	.|0.86366	.|-2.11	5.39|5.39	5.39|5.39	0.77823|0.77823	.|START-like domain (1);	.|0.035602	.|0.85682	.|D	.|0.000000	D|D	0.86859|0.86859	0.6034|0.6034	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.11329	.|0.006	T|T	0.82099|0.82099	-0.0625|-0.0625	5|10	.|0.33940	.|T	.|0.23	-21.6343|-21.6343	19.5117|19.5117	0.95144|0.95144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|56	.|P49675	.|STAR_HUMAN	T|N	35|56	.|ENSP00000276449:S56N	.|ENSP00000276449:S56N	A|S	-|-	1|2	0|0	STAR|STAR	38125327|38125327	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.778000|0.778000	0.44026|0.44026	2.710000|2.710000	0.47169|0.47169	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	GCT|AGC		0.642	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		47	230	0	0	0	1	0	47	230				
IRX1	79192	broad.mit.edu	37	5	3600738	3600738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600738C>T	ENST00000302006.3	+	3	1380	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	443					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCTCGTCCCCAGGCCAGAT	0.617																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1327-1329)cCc>cTc		iroquois homeobox 1							56.0	60.0	59.0					5																	3600738		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600738C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1328C>T	5.37:g.3600738C>T	ENSP00000305244:p.Pro443Leu						p.P443L	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			3	1380	+			443					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1328C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	6.284	0.420504	0.11928	.	.	ENSG00000170549	ENST00000302006	T	0.56941	0.43	4.17	3.3	0.37823	.	0.611325	0.15458	N	0.261247	T	0.37919	0.1021	N	0.22421	0.69	0.40193	D	0.977423	B	0.02656	0.0	B	0.04013	0.001	T	0.12477	-1.0546	10	0.33940	T	0.23	.	11.74	0.51788	0.0:0.9124:0.0:0.0876	.	443	P78414	IRX1_HUMAN	L	443	ENSP00000305244:P443L	ENSP00000305244:P443L	P	+	2	0	IRX1	3653738	1.000000	0.71417	0.397000	0.26308	0.201000	0.24016	2.611000	0.46334	0.729000	0.32403	0.467000	0.42956	CCC		0.617	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		67	405	0	0	0	1	0	67	405				
CDHR2	54825	broad.mit.edu	37	5	176004468	176004468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004468G>T	ENST00000510636.1	+	13	1537	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCCCCGGAGCGGGCAGTGG	0.652																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1261-1263)gaG>gaT		cadherin-related family member 2							29.0	33.0	32.0					5																	176004468		2201	4300	6501	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004468G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1263G>T	5.37:g.176004468G>T	ENSP00000424565:p.Glu421Asp					CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D|CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D	p.E421D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			13	1537	+			421			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1263G>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570842	0.13623	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60797	0.16;0.16;0.16	4.54	0.779	0.18550	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38295	0.1035	N	0.21097	0.63	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.22312	-1.0220	9	0.15499	T	0.54	-7.7342	9.2184	0.37362	0.3972:0.0:0.6028:0.0	.	421	Q9BYE9	CDHR2_HUMAN	D	421	ENSP00000424565:E421D;ENSP00000261944:E421D;ENSP00000421078:E421D	ENSP00000261944:E421D	E	+	3	2	CDHR2	175937074	0.014000	0.17966	0.001000	0.08648	0.002000	0.02628	1.911000	0.39937	0.273000	0.22049	-0.404000	0.06349	GAG		0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		32	81	1	0	3.57733e-08	1	3.7302e-08	32	81				
WSB2	55884	broad.mit.edu	37	12	118474256	118474256	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118474256G>T	ENST00000315436.3	-	6	861	c.720C>A	c.(718-720)agC>agA	p.S240R	WSB2_ENST00000535496.1_Missense_Mutation_p.S242R|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000441406.2_Missense_Mutation_p.S257R|WSB2_ENST00000544233.1_Missense_Mutation_p.S30R|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	240					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACAACACTGCTTTGATGGC	0.512																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(718-720)agC>agA		WD repeat and SOCS box containing 2							179.0	158.0	165.0					12																	118474256		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118474256G>T	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.720C>A	12.37:g.118474256G>T	ENSP00000319474:p.Ser240Arg					WSB2_ENST00000544233.1_Missense_Mutation_p.S30R|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000441406.2_Missense_Mutation_p.S257R|WSB2_ENST00000535496.1_Missense_Mutation_p.S242R	p.S240R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			6	861	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		240					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.720C>A	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467308	0.63625	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496;ENST00000537945	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;4.9	5.66	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.085373	0.85682	D	0.000000	T	0.47728	0.1461	N	0.21240	0.645	0.48696	D	0.99969	B	0.30211	0.273	B	0.28709	0.093	T	0.41734	-0.9492	10	0.31617	T	0.26	-20.5	14.048	0.64716	0.0728:0.0:0.9272:0.0	.	240	Q9NYS7	WSB2_HUMAN	R	240;15;257;30;242;242	ENSP00000319474:S240R;ENSP00000445941:S15R;ENSP00000409131:S257R;ENSP00000444431:S30R;ENSP00000439450:S242R;ENSP00000440386:S242R	ENSP00000319474:S240R	S	-	3	2	WSB2	116958639	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.032000	0.57274	1.395000	0.46643	0.655000	0.94253	AGC		0.512	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		116	473	1	0	4.16533e-50	1	5.15817e-50	116	473				
MUC6	4588	broad.mit.edu	37	11	1016172	1016172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016172G>A	ENST00000421673.2	-	31	6679	c.6629C>T	c.(6628-6630)gCc>gTc	p.A2210V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2210	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGAGAGTGGCCCTAATGGT	0.552																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6628-6630)gCc>gTc		mucin 6, oligomeric mucus/gel-forming							39.0	46.0	44.0					11																	1016172		2132	4227	6359	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016172G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6629C>T	11.37:g.1016172G>A	ENSP00000406861:p.Ala2210Val						p.A2210V	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6679	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2210			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6629C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023623	0.19433	.	.	ENSG00000184956	ENST00000421673	T	0.22336	1.96	2.6	1.66	0.24008	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.25759	0.063	T	0.25847	-1.0120	9	0.48119	T	0.1	.	7.7325	0.28796	0.1439:0.0:0.8561:0.0	.	2210	Q6W4X9	MUC6_HUMAN	V	2210	ENSP00000406861:A2210V	ENSP00000406861:A2210V	A	-	2	0	MUC6	1006172	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.771000	0.26633	0.372000	0.24591	0.448000	0.29417	GCC		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		8	167	0	0	0	1	0	8	167				
SERINC3	10955	broad.mit.edu	37	20	43135535	43135535	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43135535A>G	ENST00000342374.4	-	6	873	c.716T>C	c.(715-717)tTc>tCc	p.F239S	SERINC3_ENST00000255175.1_Missense_Mutation_p.F239S|SERINC3_ENST00000541235.1_Missense_Mutation_p.F184S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	239					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACTGATGAAGAACTTGTTTTC	0.393																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(715-717)tTc>tCc		serine incorporator 3							118.0	109.0	112.0					20																	43135535		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43135535A>G	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.716T>C	20.37:g.43135535A>G	ENSP00000340243:p.Phe239Ser					SERINC3_ENST00000255175.1_Missense_Mutation_p.F239S|SERINC3_ENST00000541235.1_Missense_Mutation_p.F184S	p.F239S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		6	873	-		Myeloproliferative disorder(115;0.0122)	239					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.716T>C	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145433	0.77888	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.15017	2.46;2.46;2.46	4.75	3.62	0.41486	.	0.187687	0.64402	D	0.000018	T	0.27419	0.0673	M	0.80982	2.52	0.58432	D	0.999993	P;B	0.34462	0.454;0.292	B;B	0.39935	0.314;0.232	T	0.05699	-1.0869	10	0.54805	T	0.06	.	11.7919	0.52073	0.8529:0.1471:0.0:0.0	.	239;239	Q53GK8;Q13530	.;SERC3_HUMAN	S	239;239;206;184	ENSP00000255175:F239S;ENSP00000340243:F239S;ENSP00000440966:F184S	ENSP00000255175:F239S	F	-	2	0	SERINC3	42568949	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.738000	0.47401	0.918000	0.36919	0.383000	0.25322	TTC		0.393	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		7	369	0	0	0	1	0	7	369				
ZNF512B	57473	broad.mit.edu	37	20	62598231	62598231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62598231C>A	ENST00000450537.1	-	4	451	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCCCTTACCCCTTGGCACCGC	0.622																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(391-393)Ggg>Tgg		zinc finger protein 512B							97.0	86.0	90.0					20																	62598231		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598231C>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.391G>T	20.37:g.62598231C>A	ENSP00000393795:p.Gly131Trp					ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W|ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W	p.G131W			Q96KM6	Z512B_HUMAN			4	451	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		131					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.391G>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679002	0.88542	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.30714	1.52;1.52;1.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.29908	0.895	0.47698	D	0.999499	D	0.89917	1.0	D	0.97110	1.0	T	0.45991	-0.9223	10	0.87932	D	0	-37.8379	17.032	0.86463	0.0:1.0:0.0:0.0	.	131	Q96KM6	Z512B_HUMAN	W	131	ENSP00000358904:G131W;ENSP00000393795:G131W;ENSP00000217130:G131W	ENSP00000217130:G131W	G	-	1	0	ZNF512B	62068675	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.167000	0.77562	2.451000	0.82905	0.585000	0.79938	GGG		0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		43	223	1	0	6.48837e-15	1	7.06796e-15	43	223				
NAV2	89797	broad.mit.edu	37	11	19901641	19901641	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901641G>T	ENST00000396087.3	+	5	837	c.738G>T	c.(736-738)caG>caT	p.Q246H	NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q246H|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	246	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGCCACATCAGCAGTCAAAAG	0.622																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(736-738)caG>caT		neuron navigator 2							35.0	33.0	34.0					11																	19901641		2198	4293	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19901641G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.738G>T	11.37:g.19901641G>T	ENSP00000379396:p.Gln246His					NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q246H|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H	p.Q246H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	1099	+			246			Gln-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.738G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715084	0.48622	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28895	1.61;1.71;1.71;1.69;1.59;1.59	5.73	5.73	0.89815	.	0.122438	0.37261	N	0.002163	T	0.21674	0.0522	L	0.36672	1.1	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09840	-1.0656	9	.	.	.	.	7.7447	0.28862	0.0795:0.0:0.7134:0.2071	.	246;182	Q8IVL1-3;Q8IVL1-4	.;.	H	182;246;246;246;175;177	ENSP00000353871:Q182H;ENSP00000379394:Q246H;ENSP00000309577:Q246H;ENSP00000379396:Q246H;ENSP00000435395:Q175H;ENSP00000443489:Q177H	.	Q	+	3	2	NAV2	19858217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.358000	0.44134	2.710000	0.92621	0.561000	0.74099	CAG		0.622	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		35	140	1	0	3.93418e-24	1	4.48831e-24	35	140				
HOXD9	3235	broad.mit.edu	37	2	176987568	176987568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176987568G>A	ENST00000249499.6	+	1	481	c.72G>A	c.(70-72)tcG>tcA	p.S24S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	24					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACGTGGACTCGCTTATAGGCC	0.687																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(70-72)tcG>tcA		homeobox D9							30.0	29.0	29.0					2																	176987568		2203	4300	6503	SO:0001819	synonymous_variant	3235					nucleus	sequence-specific DNA binding	g.chr2:176987568G>A		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.72G>A	2.37:g.176987568G>A						HOXD-AS2_ENST00000440016.2_RNA	p.S24S	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	481	+			24					Q86ST1	Silent	SNP	ENST00000249499.6	37	c.72G>A	CCDS2267.2																																																																																				0.687	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			28	147	0	0	0	1	0	28	147				
PEX1	5189	broad.mit.edu	37	7	92119135	92119135	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92119135A>G	ENST00000248633.4	-	22	3624	c.3529T>C	c.(3529-3531)Tta>Cta	p.L1177L	AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Silent_p.L855L|PEX1_ENST00000428214.1_Silent_p.L1120L|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1177					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCTGTCCTTAACACTGGAGGC	0.473																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3529-3531)Tta>Cta		peroxisomal biogenesis factor 1							135.0	116.0	123.0					7																	92119135		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92119135A>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3529T>C	7.37:g.92119135A>G						PEX1_ENST00000438045.1_Silent_p.L855L|AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000428214.1_Silent_p.L1120L	p.L1177L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		22	3624	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1177					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.3529T>C	CCDS5627.1																																																																																				0.473	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		69	231	0	0	0	1	0	69	231				
ABCB10	23456	broad.mit.edu	37	1	229675332	229675332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229675332G>T	ENST00000344517.4	-	6	1252	c.1210C>A	c.(1210-1212)Ctc>Atc	p.L404I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	404	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTCCGGAGAGCCCAGTCTGT	0.493																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1210-1212)Ctc>Atc		ATP-binding cassette, sub-family B (MDR/TAP), member 10							60.0	60.0	60.0					1																	229675332		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229675332G>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1210C>A	1.37:g.229675332G>T	ENSP00000355637:p.Leu404Ile						p.L404I	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			6	1252	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	404			ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1210C>A	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211720	0.79240	.	.	ENSG00000135776	ENST00000344517	D	0.90900	-2.75	5.25	5.25	0.73442	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	L	0.45698	1.435	0.80722	D	1	B	0.09022	0.002	B	0.31290	0.127	D	0.84821	0.0796	10	0.32370	T	0.25	-23.9756	19.2149	0.93772	0.0:0.0:1.0:0.0	.	404	Q9NRK6	ABCBA_HUMAN	I	404	ENSP00000355637:L404I	ENSP00000355637:L404I	L	-	1	0	ABCB10	227741955	1.000000	0.71417	0.992000	0.48379	0.594000	0.36715	6.055000	0.71103	2.619000	0.88677	0.655000	0.94253	CTC		0.493	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		61	341	1	0	7.92265e-33	1	9.37054e-33	61	341				
CRIM1	51232	broad.mit.edu	37	2	36771593	36771593	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36771593C>T	ENST00000280527.2	+	15	3065	c.2698C>T	c.(2698-2700)Ccc>Tcc	p.P900S	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	900					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCTGGAGGTTCCCCTGTGGCC	0.448																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2698-2700)Ccc>Tcc		cysteine rich transmembrane BMP regulator 1 (chordin-like)							132.0	125.0	127.0					2																	36771593		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36771593C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2698C>T	2.37:g.36771593C>T	ENSP00000280527:p.Pro900Ser					AC007401.2_ENST00000406220.1_Intron	p.P900S	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			15	3065	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	900					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.2698C>T	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258645	0.80246	.	.	ENSG00000150938	ENST00000280527	T	0.07114	3.22	5.77	5.77	0.91146	.	0.117723	0.56097	D	0.000021	T	0.19327	0.0464	L	0.29908	0.895	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.04360	-1.0957	10	0.22706	T	0.39	-15.3866	19.0471	0.93025	0.0:1.0:0.0:0.0	.	900	Q9NZV1	CRIM1_HUMAN	S	900	ENSP00000280527:P900S	ENSP00000280527:P900S	P	+	1	0	CRIM1	36625097	0.947000	0.32204	0.705000	0.30386	0.582000	0.36321	3.191000	0.50981	2.732000	0.93576	0.650000	0.86243	CCC		0.448	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		82	355	0	0	0	1	0	82	355				
SERINC3	10955	broad.mit.edu	37	20	43133515	43133515	+	Silent	SNP	G	G	A	rs201065201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43133515G>A	ENST00000342374.4	-	7	958	c.801C>T	c.(799-801)tcC>tcT	p.S267S	SERINC3_ENST00000255175.1_Silent_p.S267S|SERINC3_ENST00000541235.1_Silent_p.S212S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	267					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCAAGAGGCCGGAGCGAGGCT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20839	0.0		0.0	False		,,,				2504	0.0					ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(799-801)tcC>tcT		serine incorporator 3							130.0	115.0	120.0					20																	43133515		2203	4300	6503	SO:0001819	synonymous_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43133515G>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.801C>T	20.37:g.43133515G>A						SERINC3_ENST00000255175.1_Silent_p.S267S|SERINC3_ENST00000541235.1_Silent_p.S212S	p.S267S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		7	958	-		Myeloproliferative disorder(115;0.0122)	267					B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	c.801C>T	CCDS13333.1																																																																																				0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		33	154	0	0	0	1	0	33	154				
PKP2	5318	broad.mit.edu	37	12	33031179	33031179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33031179C>T	ENST00000070846.6	-	3	659	c.635G>A	c.(634-636)cGc>cAc	p.R212H	PKP2_ENST00000340811.4_Missense_Mutation_p.R212H	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	212					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCAAAGTGGCGCTGCCTGCT	0.612																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(634-636)cGc>cAc		plakophilin 2							138.0	117.0	124.0					12																	33031179		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031179C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.635G>A	12.37:g.33031179C>T	ENSP00000070846:p.Arg212His					PKP2_ENST00000070846.6_Missense_Mutation_p.R212H	p.R212H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	743	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		212					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.635G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798607	0.50208	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.81996	-1.56;-1.55	5.34	2.29	0.28610	.	1.149450	0.06307	N	0.701990	T	0.78020	0.4218	L	0.46157	1.445	0.09310	N	1	P;P;P	0.52316	0.951;0.918;0.952	B;B;B	0.43052	0.31;0.164;0.406	T	0.66889	-0.5809	10	0.45353	T	0.12	-7.5805	5.7619	0.18205	0.0:0.6201:0.1447:0.2352	.	212;212;212	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	212	ENSP00000342800:R212H;ENSP00000070846:R212H	ENSP00000070846:R212H	R	-	2	0	PKP2	32922446	0.958000	0.32768	0.860000	0.33809	0.943000	0.58893	0.783000	0.26802	1.272000	0.44329	0.650000	0.86243	CGC		0.612	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		63	304	0	0	0	1	0	63	304				
AP4E1	23431	broad.mit.edu	37	15	51223034	51223034	+	Silent	SNP	G	G	A	rs146147470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51223034G>A	ENST00000261842.5	+	7	841	c.735G>A	c.(733-735)ggG>ggA	p.G245G	AP4E1_ENST00000560508.1_Silent_p.G170G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	245					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTTGACTGGGAGTTTTGTAA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.0					ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(733-735)ggG>ggA		adaptor-related protein complex 4, epsilon 1 subunit		G		7,4385	12.9+/-30.5	0,7,2189	92.0	94.0	93.0		735	0.4	1.0	15	dbSNP_134	93	0,8588		0,0,4294	no	coding-synonymous	AP4E1	NM_007347.3		0,7,6483	AA,AG,GG		0.0,0.1594,0.0539		245/1138	51223034	7,12973	2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51223034G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.735G>A	15.37:g.51223034G>A						AP4E1_ENST00000560508.1_Silent_p.G170G	p.G245G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	7	841	+			245					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.735G>A	CCDS32240.1																																																																																				0.368	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			83	428	0	0	0	1	0	83	428				
DNM1P46	196968	broad.mit.edu	37	15	100333097	100333097	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100333097C>A	ENST00000341853.1	-	0	1094				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TTTTGCTGGGCTTGGCTGCTG	0.473																																						ENST00000341853.1																			0																				117.0	98.0	104.0					15																	100333097		876	1991	2867			0							g.chr15:100333097C>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100333097C>A								NR_003260.1						0	1094	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.473	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		60	419	1	0	2.02796e-37	1	2.43587e-37	60	419				
SLC44A5	204962	broad.mit.edu	37	1	75684943	75684943	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75684943T>C	ENST00000370855.5	-	16	1378	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	SLC44A5_ENST00000535611.1_Splice_Site_p.E292G|SLC44A5_ENST00000370859.3_Splice_Site_p.E422G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	422					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGTACTTACCTCTGGGTCACA	0.413																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e16+1		solute carrier family 44, member 5							94.0	89.0	91.0					1																	75684943		2203	4300	6503	SO:0001630	splice_region_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684943T>C	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1266+1A>G	1.37:g.75684943T>C						SLC44A5_ENST00000370859.3_Splice_Site_p.E422_splice|SLC44A5_ENST00000535611.1_Splice_Site_p.E292_splice	p.E422_splice	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			16	1378	-			422					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	ENST00000370855.5	37	c.1266_splice	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532786	0.45073	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.15372	2.86;2.86;2.43	4.85	0.696	0.18075	.	0.429376	0.26373	N	0.024753	T	0.07369	0.0186	L	0.56769	1.78	0.43385	D	0.995495	B;B;B;B;B	0.23650	0.01;0.041;0.089;0.008;0.072	B;B;B;B;B	0.31547	0.048;0.081;0.125;0.028;0.132	T	0.09292	-1.0681	10	0.29301	T	0.29	-0.3	8.0219	0.30415	0.1248:0.0:0.2596:0.6156	.	416;461;422;422;461	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	G	422;461;422;292;415	ENSP00000359896:E422G;ENSP00000359892:E422G;ENSP00000443090:E292G	ENSP00000359892:E422G	E	-	2	0	SLC44A5	75457531	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.313000	0.43735	0.251000	0.21505	0.533000	0.62120	GAG		0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Missense_Mutation	11	252	0	0	0	1	0	11	252				
FBLL1	345630	broad.mit.edu	37	5	167956993	167956993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167956993G>T	ENST00000338333.4	+	1	873	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	162					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										GGCCATCCTGGGCGGGGTGGA	0.667																																						ENST00000338333.4																			0											c.(484-486)Ggc>Tgc									12.0	12.0	12.0					5																	167956993		874	1990	2864	SO:0001583	missense	0							g.chr5:167956993G>T			5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.484G>T	5.37:g.167956993G>T	ENSP00000473383:p.Gly162Cys						p.G162C							1	873	+									Missense_Mutation	SNP	ENST00000338333.4	37	c.484G>T																																																																																					0.667	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347089.3	NR_024356		14	40	1	0	4.14922e-12	1	4.44601e-12	14	40				
OR52B6	340980	broad.mit.edu	37	11	5602323	5602323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602323G>A	ENST00000345043.2	+	1	217	c.217G>A	c.(217-219)Gca>Aca	p.A73T	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCCAGGCAATCCTGCA	0.507																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(217-219)Gca>Aca		olfactory receptor, family 52, subfamily B, member 6							164.0	160.0	161.0					11																	5602323		2141	4259	6400	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602323G>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.217G>A	11.37:g.5602323G>A	ENSP00000341581:p.Ala73Thr					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.A73T	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	217	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	73					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.217G>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	8.676	0.903901	0.17760	.	.	ENSG00000187747	ENST00000345043	T	0.00402	7.56	5.15	-0.535	0.11879	GPCR, rhodopsin-like superfamily (1);	0.822472	0.09784	U	0.756273	T	0.00178	0.0005	N	0.12443	0.215	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36138	-0.9760	10	0.38643	T	0.18	.	0.6632	0.00846	0.2204:0.3738:0.1321:0.2737	.	73	Q8NGF0	O52B6_HUMAN	T	73	ENSP00000341581:A73T	ENSP00000341581:A73T	A	+	1	0	OR52B6	5558899	0.000000	0.05858	0.015000	0.15790	0.447000	0.32167	-1.811000	0.01728	0.056000	0.16144	-0.171000	0.13296	GCA		0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		104	440	0	0	0	1	0	104	440				
R3HDM4	91300	broad.mit.edu	37	19	901497	901497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:901497C>T	ENST00000361574.5	-	3	349	c.276G>A	c.(274-276)ctG>ctA	p.L92L	R3HDM4_ENST00000587975.1_Silent_p.L71L	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	92						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										CCCCATCCTCCAGGCCAGGCA	0.652																																						ENST00000361574.5																			0											c.(274-276)ctG>ctA		R3H domain containing 4							39.0	39.0	39.0					19																	901497		2201	4299	6500	SO:0001819	synonymous_variant	91300					nucleus	nucleic acid binding	g.chr19:901497C>T	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.276G>A	19.37:g.901497C>T						R3HDM4_ENST00000587975.1_Silent_p.L71L	p.L92L	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN			3	349	-			92						Silent	SNP	ENST00000361574.5	37	c.276G>A	CCDS12048.1																																																																																				0.652	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		26	128	0	0	0	1	0	26	128				
EXOC4	60412	broad.mit.edu	37	7	132959895	132959895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132959895G>A	ENST00000253861.4	+	2	274	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EXOC4_ENST00000539845.1_5'UTR|EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	82					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCACAGAGCGCATCACTAAC	0.473																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(244-246)cGc>cAc		exocyst complex component 4							112.0	101.0	105.0					7																	132959895		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132959895G>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.245G>A	7.37:g.132959895G>A	ENSP00000253861:p.Arg82His					EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H|EXOC4_ENST00000539845.1_5'UTR	p.R82H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			2	274	+		Esophageal squamous(399;0.129)	82					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.245G>A	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148632	0.94603	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.49	5.49	0.81192	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	L	0.28115	0.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.945;0.973	T	0.59322	-0.7476	9	0.22109	T	0.4	.	19.3733	0.94498	0.0:0.0:1.0:0.0	.	82;82	Q96A65;Q8TAR2	EXOC4_HUMAN;.	H	82	.	ENSP00000253861:R82H	R	+	2	0	EXOC4	132610435	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.360000	0.97119	2.579000	0.87056	0.650000	0.86243	CGC		0.473	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		39	217	0	0	0	1	0	39	217				
NDE1	54820	broad.mit.edu	37	16	15781279	15781279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15781279C>T	ENST00000396353.2	+	6	1260	c.434C>T	c.(433-435)gCc>gTc	p.A145V	NDE1_ENST00000342673.5_Missense_Mutation_p.A145V|NDE1_ENST00000396355.1_Missense_Mutation_p.A145V|NDE1_ENST00000396354.1_Missense_Mutation_p.A145V|CTB-193M12.3_ENST00000576454.1_RNA			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	145	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTGAATCAGGCCATCGAAAGA	0.498																																						ENST00000396355.1																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(433-435)gCc>gTc		nudE neurodevelopment protein 1							83.0	85.0	84.0					16																	15781279		2197	4300	6497	SO:0001583	missense	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15781279C>T	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.434C>T	16.37:g.15781279C>T	ENSP00000379641:p.Ala145Val					NDE1_ENST00000396353.2_Missense_Mutation_p.A145V|NDE1_ENST00000396354.1_Missense_Mutation_p.A145V|NDE1_ENST00000342673.5_Missense_Mutation_p.A145V	p.A145V	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			6	1260	+			145			Interaction with PAFAH1B1 (By similarity).		Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	37	c.434C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.294382	0.81025	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.86	5.86	0.93980	NUDE protein, C-terminal (1);	0.051998	0.85682	D	0.000000	T	0.60196	0.2250	M	0.69463	2.115	0.80722	D	1	B;D	0.58620	0.299;0.983	B;B	0.42522	0.013;0.39	T	0.62765	-0.6785	9	0.40728	T	0.16	-51.7478	19.1736	0.93590	0.0:1.0:0.0:0.0	.	145;145	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	V	145	.	ENSP00000345892:A145V	A	+	2	0	NDE1	15688780	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.020000	0.70826	2.766000	0.95052	0.591000	0.81541	GCC		0.498	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		61	244	0	0	0	1	0	61	244				
FCRL1	115350	broad.mit.edu	37	1	157771268	157771268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157771268C>T	ENST00000368176.3	-	6	1053	c.986G>A	c.(985-987)gGc>gAc	p.G329D	FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTTTGAGGCCGTAGCAAAA	0.443																																					GBM(54;482 1003 11223 30131 35730)	ENST00000368176.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(985-987)gGc>gAc		Fc receptor-like 1							72.0	73.0	73.0					1																	157771268		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771268C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.986G>A	1.37:g.157771268C>T	ENSP00000357158:p.Gly329Asp					FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D|FCRL1_ENST00000358292.3_Intron	p.G329D	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1053	-	all_hematologic(112;0.0378)		329					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.986G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868592	0.32977	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.38077	1.16;1.19	5.35	4.43	0.53597	.	1.011940	0.07905	N	0.973270	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	0.99999	D;P	0.55172	0.97;0.627	P;B	0.50825	0.651;0.184	T	0.02417	-1.1162	10	0.32370	T	0.25	.	9.2445	0.37518	0.0:0.9058:0.0:0.0942	.	329;329	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	D	329	ENSP00000357158:G329D;ENSP00000418130:G329D	ENSP00000357158:G329D	G	-	2	0	FCRL1	156037892	0.574000	0.26684	0.864000	0.33941	0.132000	0.20833	1.796000	0.38794	2.941000	0.99782	0.655000	0.94253	GGC		0.443	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		74	378	0	0	0	1	0	74	378				
PIGO	84720	broad.mit.edu	37	9	35095227	35095227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35095227C>T	ENST00000378617.3	-	2	730	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PIGO_ENST00000298004.5_Silent_p.E112E|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Silent_p.E112E|PIGO_ENST00000341666.3_Silent_p.E112E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	112					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGCTGAATCTCCAGGATCC	0.597																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(334-336)gaG>gaA		phosphatidylinositol glycan anchor biosynthesis, class O							99.0	100.0	99.0					9																	35095227		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095227C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.336G>A	9.37:g.35095227C>T						PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Silent_p.E112E|PIGO_ENST00000298004.5_Silent_p.E112E|PIGO_ENST00000361778.2_Silent_p.E112E	p.E112E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	730	-			112					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.336G>A	CCDS6575.1																																																																																				0.597	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		129	554	0	0	0	1	0	129	554				
AGAP3	116988	broad.mit.edu	37	7	150840658	150840658	+	Missense_Mutation	SNP	T	T	G	rs201379216		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150840658T>G	ENST00000463381.1	+	15	2007	c.1511T>G	c.(1510-1512)gTt>gGt	p.V504G	AGAP3_ENST00000397238.2_Missense_Mutation_p.V835G	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	799	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATGGCCAACGTTGTCTTCACG	0.567																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2503-2505)gTt>gGt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							110.0	118.0	115.0					7																	150840658		2169	4255	6424	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840658T>G	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1511T>G	7.37:g.150840658T>G	ENSP00000418016:p.Val504Gly					AGAP3_ENST00000463381.1_Missense_Mutation_p.V504G	p.V835G	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			17	2504	+			799					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2504T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378686|3.378686	0.61735|0.61735	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.66638	.|-0.22;-0.22	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Ankyrin repeat-containing domain (4);	.|0.153604	.|0.44902	.|D	.|0.000411	T|T	0.78811|0.78811	0.4342|0.4342	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;0.974;0.928;0.999	.|D;P;P;D	.|0.97110	.|1.0;0.901;0.74;0.997	T|T	0.80997|0.80997	-0.1132|-0.1132	5|10	.|0.87932	.|D	.|0	.|.	14.5549|14.5549	0.68094|0.68094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|799;334;835;504	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	V|G	328|504;334;835;799	.|ENSP00000418016:V504G;ENSP00000380413:V835G	.|ENSP00000334157:V799G	L|V	+|+	1|2	2|0	AGAP3|AGAP3	150471591|150471591	1.000000|1.000000	0.71417|0.71417	0.050000|0.050000	0.19076|0.19076	0.406000|0.406000	0.30931|0.30931	7.863000|7.863000	0.87023|0.87023	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TTG|GTT		0.567	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		80	370	0	0	0	1	0	80	370				
UNC5D	137970	broad.mit.edu	37	8	35583857	35583857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35583857G>T	ENST00000404895.2	+	10	1819	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D	UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D|UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D|UNC5D_ENST00000287272.2_Missense_Mutation_p.E428D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	497					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAGTGTCTGAGAGAGCTGAGT	0.473																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1282-1284)gaG>gaT		unc-5 homolog D (C. elegans)							77.0	78.0	78.0					8																	35583857		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583857G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1491G>T	8.37:g.35583857G>T	ENSP00000385143:p.Glu497Asp					UNC5D_ENST00000404895.2_Missense_Mutation_p.E497D|UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D	p.E428D			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1304	+			497					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1284G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	3.978	-0.007080	0.07773	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.53423	0.65;1.11;1.14;0.65;0.62;2.6	6.04	0.374	0.16183	.	0.298550	0.41605	N	0.000856	T	0.18509	0.0444	N	0.11789	0.175	0.33498	D	0.589572	B;B;B;B	0.10296	0.003;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.004;0.002	T	0.31806	-0.9930	10	0.02654	T	1	-15.9669	3.5666	0.07903	0.1971:0.2926:0.4098:0.1005	.	73;502;492;497	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	D	497;430;428;502;492;73	ENSP00000385143:E497D;ENSP00000392739:E430D;ENSP00000287272:E428D;ENSP00000412652:E502D;ENSP00000394303:E492D;ENSP00000397211:E73D	ENSP00000287272:E428D	E	+	3	2	UNC5D	35703399	0.011000	0.17503	0.998000	0.56505	0.888000	0.51559	-0.587000	0.05780	0.113000	0.18004	0.563000	0.77884	GAG		0.473	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			36	243	1	0	1.90571e-15	1	2.08261e-15	36	243				
DNAH17	8632	broad.mit.edu	37	17	76496430	76496430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76496430G>A	ENST00000585328.1	-	36	5706	c.5582C>T	c.(5581-5583)aCc>aTc	p.T1861I	DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D|DNAH17_ENST00000389840.5_Missense_Mutation_p.T1852I|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1852	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTAGACCATGGTGCCCAGGGC	0.622																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5554-5556)aCc>aTc		dynein, axonemal, heavy chain 17							27.0	31.0	30.0					17																	76496430		2003	4199	6202	SO:0001583	missense	8632							g.chr17:76496430G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5582C>T	17.37:g.76496430G>A	ENSP00000465516:p.Thr1861Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.T1861I|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D	p.T1852I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		36	5679	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5555C>T		.	.	.	.	.	.	.	.	.	.	G	4.354	0.065090	0.08388	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.07444	3.19	4.07	2.04	0.26737	.	.	.	.	.	T	0.01287	0.0042	N	0.00113	-2.09	0.31028	N	0.717726	.	.	.	.	.	.	T	0.42310	-0.9459	7	0.02654	T	1	.	4.5718	0.12214	0.4621:0.0:0.5378:0.0	.	.	.	.	I	1861;1852	ENSP00000374490:T1852I	ENSP00000300671:T1861I	T	-	2	0	DNAH17	74008025	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.270000	0.58896	1.055000	0.40461	0.448000	0.29417	ACC		0.622	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		22	74	0	0	0	1	0	22	74				
CFAP61	26074	broad.mit.edu	37	20	20180517	20180517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180517G>A	ENST00000245957.5	+	17	1979	c.1903G>A	c.(1903-1905)Gct>Act	p.A635T	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		635										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGGCATAAACGCTCCATCAAA	0.627																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1903-1905)Gct>Act		chromosome 20 open reading frame 26							124.0	113.0	117.0					20																	20180517		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180517G>A																												ENST00000245957.5:c.1903G>A	20.37:g.20180517G>A	ENSP00000245957:p.Ala635Thr					C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	p.A635T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1979	+			635					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1903G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270035	0.80469	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.23552	1.9	5.57	5.57	0.84162	.	0.157250	0.45867	D	0.000333	T	0.52403	0.1732	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.949	T	0.45011	-0.9290	10	0.40728	T	0.16	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	615;635	F8W6K4;Q8NHU2	.;CT026_HUMAN	T	575;203;615;635	ENSP00000245957:A635T	ENSP00000245957:A635T	A	+	1	0	C20orf26	20128517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.904000	0.69886	2.620000	0.88729	0.563000	0.77884	GCT		0.627	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			85	719	0	0	0	1	0	85	719				
ZNF280D	54816	broad.mit.edu	37	15	56985325	56985325	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56985325T>C	ENST00000267807.7	-	7	686	c.470A>G	c.(469-471)tAc>tGc	p.Y157C	ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000396245.1_5'UTR	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCCCCCTTGGTAATGTGATAA	0.343																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(430-432)tAc>tGc		zinc finger protein 280D							92.0	86.0	88.0					15																	56985325		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56985325T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.470A>G	15.37:g.56985325T>C	ENSP00000267807:p.Tyr157Cys					ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y157C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y144C	p.Y144C	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	6	1114	-			157					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.431A>G	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938903	0.52972	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.25414	1.8	5.73	3.35	0.38373	.	.	.	.	.	T	0.33904	0.0879	L	0.34521	1.04	0.80722	D	1	D;D	0.56035	0.974;0.971	P;P	0.62813	0.907;0.855	T	0.01739	-1.1284	9	0.45353	T	0.12	-5.1008	10.3731	0.44066	0.262:0.0:0.0:0.738	.	220;157	B4DHL1;Q6N043	.;Z280D_HUMAN	C	157;144	ENSP00000267807:Y157C	ENSP00000267807:Y157C	Y	-	2	0	ZNF280D	54772617	1.000000	0.71417	0.355000	0.25773	0.983000	0.72400	2.039000	0.41193	0.398000	0.25338	0.477000	0.44152	TAC		0.343	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		44	209	0	0	0	1	0	44	209				
ZNF491	126069	broad.mit.edu	37	19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGTTCCTTTCGCAGACATGAA	0.438																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(607-609)cGc>cAc		zinc finger protein 491							55.0	55.0	55.0					19																	11917376		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917376G>A	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.608G>A	19.37:g.11917376G>A	ENSP00000313443:p.Arg203His					ZNF491_ENST00000492230.1_Intron	p.R203H	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	939	+			203					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.608G>A	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	1.956	-0.440106	0.04636	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.00792	5.69	0.892	-0.203	0.13204	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	B	0.40982	0.345	T	0.50915	-0.8771	9	0.52906	T	0.07	.	1.8977	0.03261	0.417:0.0:0.3131:0.2699	.	203	Q8N8L2	ZN491_HUMAN	H	203	ENSP00000313443:R203H	ENSP00000313443:R203H	R	+	2	0	ZNF491	11778376	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.506000	0.02271	-0.041000	0.13558	0.407000	0.27541	CGC		0.438	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		39	172	0	0	0	1	0	39	172				
PRR5L	79899	broad.mit.edu	37	11	36484237	36484237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36484237C>T	ENST00000378867.3	+	10	1413	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	PRR5L_ENST00000530639.1_Missense_Mutation_p.A353V|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	353					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGGGGGCCAGGGGCAGC	0.642																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(1057-1059)gCc>gTc		proline rich 5 like							30.0	31.0	31.0					11																	36484237		2184	4282	6466	SO:0001583	missense	79899							g.chr11:36484237C>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.1058C>T	11.37:g.36484237C>T	ENSP00000368144:p.Ala353Val					PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.A353V	p.A353V	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			10	1413	+			353					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.1058C>T	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223423	0.39300	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.80304	-1.36;-1.36;-1.36	5.41	-0.113	0.13568	.	2.381560	0.01509	N	0.017830	T	0.67249	0.2873	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.51188	-0.8737	10	0.24483	T	0.36	-7.0768	6.0317	0.19684	0.0:0.5007:0.2319:0.2674	.	225;353	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	V	353;280;353	ENSP00000435050:A353V;ENSP00000310103:A280V;ENSP00000368144:A353V	ENSP00000310103:A280V	A	+	2	0	PRR5L	36440813	0.000000	0.05858	0.002000	0.10522	0.885000	0.51271	1.128000	0.31369	0.246000	0.21394	0.555000	0.69702	GCC		0.642	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		8	319	0	0	0	1	0	8	319				
CCDC92	80212	broad.mit.edu	37	12	124421736	124421736	+	Missense_Mutation	SNP	C	C	T	rs34103982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124421736C>T	ENST00000238156.3	-	5	1219	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545135.1_Missense_Mutation_p.V272I|CCDC92_ENST00000544798.1_Intron	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	289						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCCACCCCGACGTGGGCCTTG	0.697													C|||	7	0.00139776	0.0053	0.0	5008	,	,		11508	0.0		0.0	False		,,,				2504	0.0					ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(814-816)Gtc>Atc		coiled-coil domain containing 92		C	ILE/VAL	14,4388		0,14,2187	21.0	22.0	22.0		865	4.5	1.0	12	dbSNP_126	22	0,8594		0,0,4297	no	missense	CCDC92	NM_025140.1	29	0,14,6484	TT,TC,CC		0.0,0.318,0.1077	benign	289/332	124421736	14,12982	2201	4297	6498	SO:0001583	missense	80212							g.chr12:124421736C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.865G>A	12.37:g.124421736C>T	ENSP00000238156:p.Val289Ile					CCDC92_ENST00000238156.3_Missense_Mutation_p.V289I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I	p.V272I			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	4110	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		289					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.814G>A	CCDS9256.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	12.24	1.877744	0.33162	0.00318	0.0	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.26067	1.76;1.8;1.8	5.43	4.53	0.55603	.	0.197295	0.44097	N	0.000489	T	0.10035	0.0246	N	0.12746	0.255	0.38912	D	0.957564	B	0.21821	0.061	B	0.17098	0.017	T	0.08493	-1.0719	10	0.37606	T	0.19	-16.8421	9.9182	0.41448	0.0:0.7836:0.0:0.2164	rs34103982	289	Q53HC0	CCD92_HUMAN	I	289;272;272	ENSP00000238156:V289I;ENSP00000439526:V272I;ENSP00000440024:V272I	ENSP00000238156:V289I	V	-	1	0	CCDC92	122987689	0.993000	0.37304	0.990000	0.47175	0.309000	0.27889	0.366000	0.20365	1.261000	0.44149	0.505000	0.49811	GTC		0.697	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		34	266	0	0	0	1	0	34	266				
DDX24	57062	broad.mit.edu	37	14	94526811	94526811	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94526811C>A	ENST00000330836.5	-	5	1677	c.1546G>T	c.(1546-1548)Gct>Tct	p.A516S	DDX24_ENST00000555054.1_Missense_Mutation_p.A473S|DDX24_ENST00000544005.1_Missense_Mutation_p.A266S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	516	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CGAGCAGGAGCCTGATGCACC	0.473																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1546-1548)Gct>Tct		DEAD (Asp-Glu-Ala-Asp) box helicase 24							193.0	179.0	184.0					14																	94526811		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526811C>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1546G>T	14.37:g.94526811C>A	ENSP00000328690:p.Ala516Ser					DDX24_ENST00000544005.1_Missense_Mutation_p.A266S|DDX24_ENST00000555054.1_Missense_Mutation_p.A473S	p.A516S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1677	-		all_cancers(154;0.12)	516			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1546G>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780661	0.31502	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04706	3.57;3.57;3.57	5.36	3.5	0.40072	DEAD-like helicase (2);	0.588254	0.19785	N	0.106136	T	0.02970	0.0088	N	0.14661	0.345	0.32623	N	0.523092	B	0.22414	0.069	B	0.26614	0.071	T	0.35101	-0.9802	10	0.12430	T	0.62	-0.1179	7.8637	0.29524	0.0:0.6935:0.1462:0.1603	.	516	Q9GZR7	DDX24_HUMAN	S	516;266;461;142;473;473	ENSP00000328690:A516S;ENSP00000440623:A266S;ENSP00000452145:A473S	ENSP00000328690:A516S	A	-	1	0	DDX24	93596564	0.908000	0.30866	0.988000	0.46212	0.653000	0.38743	0.647000	0.24812	0.713000	0.32060	0.563000	0.77884	GCT		0.473	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		143	668	1	0	3.06621e-78	1	3.91588e-78	143	668				
DNAJC22	79962	broad.mit.edu	37	12	49743036	49743036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49743036G>T	ENST00000549441.2	+	3	1585	c.381G>T	c.(379-381)caG>caT	p.Q127H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	127						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTGGCAACCAGACCTCAGACT	0.532																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(379-381)caG>caT		DnaJ (Hsp40) homolog, subfamily C, member 22							127.0	121.0	123.0					12																	49743036		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49743036G>T	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.381G>T	12.37:g.49743036G>T	ENSP00000446830:p.Gln127His					DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H	p.Q127H			Q8N4W6	DJC22_HUMAN			3	1585	+			127					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.381G>T	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468563	0.63625	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.45668	0.89;0.89	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.64997	1.995	0.49299	D	0.999776	D	0.89917	1.0	D	0.85130	0.997	T	0.60271	-0.7296	10	0.87932	D	0	-12.8666	7.8686	0.29552	0.1798:0.0:0.8202:0.0	.	127	Q8N4W6	DJC22_HUMAN	H	127	ENSP00000446830:Q127H;ENSP00000378508:Q127H	ENSP00000378508:Q127H	Q	+	3	2	DNAJC22	48029303	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.927000	0.63440	2.399000	0.81585	0.561000	0.74099	CAG		0.532	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		173	755	1	0	5.63857e-76	1	7.19304e-76	173	755				
TTLL7	79739	broad.mit.edu	37	1	84372050	84372050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84372050C>A	ENST00000260505.8	-	17	2466	c.2089G>T	c.(2089-2091)Gga>Tga	p.G697*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	697					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTGACTTTCCTGGAAACCGG	0.363																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2089-2091)Gga>Tga		tubulin tyrosine ligase-like family, member 7							157.0	158.0	157.0					1																	84372050		2203	4300	6503	SO:0001587	stop_gained	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84372050C>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2089G>T	1.37:g.84372050C>A	ENSP00000260505:p.Gly697*					TTLL7_ENST00000477524.1_5'UTR	p.G697*	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	17	2466	-			697					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Nonsense_Mutation	SNP	ENST00000260505.8	37	c.2089G>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	44	10.637590	0.99442	.	.	ENSG00000137941	ENST00000260505;ENST00000370704	.	.	.	5.76	5.76	0.90799	.	0.437791	0.27068	N	0.021087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7465	0.91795	0.0:1.0:0.0:0.0	.	.	.	.	X	697;474	.	ENSP00000260505:G697X	G	-	1	0	TTLL7	84144638	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.731000	0.74785	2.724000	0.93272	0.585000	0.79938	GGA		0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		16	504	1	0	1.33834e-09	1	1.40959e-09	16	504				
SMARCA5	8467	broad.mit.edu	37	4	144449155	144449155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144449155G>A	ENST00000283131.3	+	7	1398	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	312	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AAGCTCACAGGATCAAAAATG	0.264																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(934-936)agG>agA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							42.0	45.0	44.0					4																	144449155		2199	4294	6493	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144449155G>A	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.936G>A	4.37:g.144449155G>A							p.R312R	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			7	1398	+	all_hematologic(180;0.158)		312			Helicase ATP-binding.			Silent	SNP	ENST00000283131.3	37	c.936G>A	CCDS3761.1																																																																																				0.264	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			43	182	0	0	0	1	0	43	182				
PDCL	5082	broad.mit.edu	37	9	125585390	125585390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125585390G>T	ENST00000259467.4	-	3	424	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	87					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TTCTTGATCAGCCTTTCCATC	0.522																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(259-261)Ctg>Atg		phosducin-like							251.0	214.0	227.0					9																	125585390		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125585390G>T	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.259C>A	9.37:g.125585390G>T	ENSP00000259467:p.Leu87Met						p.L87M	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			3	424	-			87					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.259C>A	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433300|4.433300	0.83776|0.83776	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000436632;ENST00000394285|ENST00000259467	.|T	.|0.54071	.|0.59	5.98|5.98	5.08|5.08	0.68730|0.68730	.|Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69260|0.69260	0.3091|0.3091	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59767	.|0.986;0.986	.|D;D	.|0.64877	.|0.93;0.93	T|T	0.71251|0.71251	-0.4648|-0.4648	5|10	.|0.66056	.|D	.|0.02	-16.2229|-16.2229	14.7352|14.7352	0.69412|0.69412	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|87;87	.|Q4VXB6;Q13371	.|.;PHLP_HUMAN	D|M	53;75|87	.|ENSP00000259467:L87M	.|ENSP00000259467:L87M	A|L	-|-	2|1	0|2	PDCL|PDCL	124625211|124625211	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.470000|9.470000	0.97683|0.97683	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	GCT|CTG		0.522	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		151	720	1	0	2.05974e-71	1	2.61908e-71	151	720				
TRBV10-2	28584	broad.mit.edu	37	7	142206946	142206946	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142206946G>T	ENST00000426318.2	-	0	65									T cell receptor beta variable 10-2																		CATAGAAGAAGAGCCTGGTGC	0.547																																						ENST00000426318.2																			0																				84.0	86.0	86.0					7																	142206946		1885	4114	5999			0							g.chr7:142206946G>T	U17049		7q34	2012-02-07			ENSG00000229769	ENSG00000229769		"""T cell receptors / TRB locus"""	12178	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV102, TCRBV10S2, TCRBV12S3			OTTHUMG00000158535		7.37:g.142206946G>T														0	65	-									RNA	SNP	ENST00000426318.2	37																																																																																						0.547	TRBV10-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351241.1	NG_001333		45	200	1	0	4.64027e-19	1	5.16652e-19	45	200				
NUP50	10762	broad.mit.edu	37	22	45577225	45577225	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45577225A>C	ENST00000347635.4	+	6	1528	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D	NUP50_ENST00000407019.2_Missense_Mutation_p.E326D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000425733.2_Missense_Mutation_p.E104D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	354	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGTAAAAGAAGAAGATGCTT	0.418																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1060-1062)gaA>gaC		nucleoporin 50kDa							81.0	83.0	82.0					22																	45577225		2203	4300	6503	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45577225A>C	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1062A>C	22.37:g.45577225A>C	ENSP00000345895:p.Glu354Asp					NUP50_ENST00000407019.2_Missense_Mutation_p.E326D|NUP50_ENST00000425733.2_Missense_Mutation_p.E104D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D	p.E354D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1528	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	354			RanBD1.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.1062A>C	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920281	0.73098	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096;ENST00000422489	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.58	0.41010	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.70275	2.135	0.58432	D	0.999998	D;P	0.60160	0.987;0.919	D;D	0.79108	0.992;0.934	T	0.47018	-0.9149	10	0.20046	T	0.44	-42.6985	9.3837	0.38329	0.7895:0.0:0.2105:0.0	.	104;354	B4E2D3;Q9UKX7	.;NUP50_HUMAN	D	354;326;104;326;133	ENSP00000345895:E354D;ENSP00000385555:E326D;ENSP00000406928:E104D;ENSP00000379403:E326D;ENSP00000416264:E133D	ENSP00000345895:E354D	E	+	3	2	NUP50	43955889	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	0.711000	0.25764	0.422000	0.26005	0.529000	0.55759	GAA		0.418	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			48	252	0	0	0	1	0	48	252				
XPC	7508	broad.mit.edu	37	3	14207064	14207064	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14207064C>A	ENST00000285021.7	-	6	857	c.643G>T	c.(643-645)Gca>Tca	p.A215S	XPC_ENST00000449060.2_Missense_Mutation_p.A178S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	215					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCCATTTGCTAGCAGGCAG	0.527			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(643-645)Gca>Tca	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							55.0	54.0	54.0					3																	14207064		1991	4176	6167	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14207064C>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.643G>T	3.37:g.14207064C>A	ENSP00000285021:p.Ala215Ser					XPC_ENST00000449060.2_Missense_Mutation_p.A178S	p.A215S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			6	857	-			215					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.643G>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164672	0.78339	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.65178	-0.14;-0.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.73598	2.24	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.56042	0.73;0.79	T	0.76130	-0.3072	10	0.45353	T	0.12	-17.5158	19.5002	0.95091	0.0:1.0:0.0:0.0	.	178;215	E9PH69;Q01831	.;XPC_HUMAN	S	215;178	ENSP00000285021:A215S;ENSP00000404002:A178S	ENSP00000285021:A215S	A	-	1	0	XPC	14182068	1.000000	0.71417	0.895000	0.35142	0.123000	0.20343	6.688000	0.74557	2.604000	0.88044	0.563000	0.77884	GCA		0.527	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		21	76	1	0	5.49717e-05	1	5.60444e-05	21	76				
WNT4	54361	broad.mit.edu	37	1	22447815	22447815	+	Silent	SNP	G	G	A	rs199545625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22447815G>A	ENST00000290167.6	-	4	520	c.477C>T	c.(475-477)atC>atT	p.I159I	WNT4_ENST00000542383.1_Silent_p.I104I	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	159					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACCGTAGGCGATGTTGTCAG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20312	0.0		0.0	False		,,,				2504	0.0					ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(475-477)atC>atT		wingless-type MMTV integration site family, member 4		G		1,4405	2.1+/-5.4	0,1,2202	104.0	93.0	97.0		477	3.4	1.0	1		97	0,8600		0,0,4300	no	coding-synonymous	WNT4	NM_030761.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		159/352	22447815	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22447815G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.477C>T	1.37:g.22447815G>A						WNT4_ENST00000542383.1_Silent_p.I104I	p.I159I	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	4	520	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	159					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	37	c.477C>T	CCDS223.1																																																																																				0.622	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			88	311	0	0	0	1	0	88	311				
SH3RF1	57630	broad.mit.edu	37	4	170037775	170037775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170037775G>A	ENST00000284637.9	-	10	2125	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	595					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTGGTTGTGCGCTGCAACTAG	0.532																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1783-1785)gCg>gTg		SH3 domain containing ring finger 1							44.0	49.0	47.0					4																	170037775		2198	4292	6490	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170037775G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1784C>T	4.37:g.170037775G>A	ENSP00000284637:p.Ala595Val					SH3RF1_ENST00000508685.1_5'UTR	p.A595V	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	10	2125	-		Prostate(90;0.00267)|Renal(120;0.0183)	595					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1784C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.922011	0.17982	.	.	ENSG00000154447	ENST00000284637	T	0.12465	2.68	5.64	4.68	0.58851	.	0.315261	0.39146	N	0.001448	T	0.09686	0.0238	N	0.25380	0.74	0.20489	N	0.999895	B	0.10296	0.003	B	0.04013	0.001	T	0.14337	-1.0476	10	0.37606	T	0.19	-18.7954	9.7127	0.40256	0.1787:0.0:0.8213:0.0	.	595	Q7Z6J0	SH3R1_HUMAN	V	595	ENSP00000284637:A595V	ENSP00000284637:A595V	A	-	2	0	SH3RF1	170274350	0.984000	0.35163	0.977000	0.42913	0.003000	0.03518	1.641000	0.37197	2.653000	0.90120	0.555000	0.69702	GCG		0.532	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		63	339	0	0	0	1	0	63	339				
UBE2J2	118424	broad.mit.edu	37	1	1203315	1203315	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1203315C>A	ENST00000349431.6	-	2	277	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y|UBE2J2_ENST00000491779.1_Intron	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	20					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAAGGTAGTCCTGCTTCAGC	0.572																																						ENST00000349431.6																			0				cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(58-60)Gac>Tac		ubiquitin-conjugating enzyme E2, J2							246.0	263.0	257.0					1																	1203315		2203	4300	6503	SO:0001583	missense	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1203315C>A	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.58G>T	1.37:g.1203315C>A	ENSP00000305826:p.Asp20Tyr					UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400929.2_Intron	p.D20Y	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	2	277	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	20					A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	37	c.58G>T	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474331	0.84640	.	.	ENSG00000160087	ENST00000349431;ENST00000360466;ENST00000400930;ENST00000435198;ENST00000422076;ENST00000502382;ENST00000488418	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.42	4.51	0.55191	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042455	0.85682	D	0.000000	T	0.73102	0.3544	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.79512	-0.1773	10	0.87932	D	0	.	13.2767	0.60191	0.0:0.9224:0.0:0.0776	.	20;20	A8MYC7;Q8N2K1	.;UB2J2_HUMAN	Y	20	ENSP00000305826:D20Y;ENSP00000353653:D20Y;ENSP00000383719:D20Y;ENSP00000393301:D20Y;ENSP00000401898:D20Y;ENSP00000424342:D20Y	ENSP00000305826:D20Y	D	-	1	0	UBE2J2	1193178	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.022000	0.76431	1.428000	0.47296	0.655000	0.94253	GAC		0.572	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		30	1803	1	0	1.5739e-10	1	1.67034e-10	30	1803				
HAS2	3037	broad.mit.edu	37	8	122626577	122626577	+	Silent	SNP	T	T	C	rs530553094		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626577T>C	ENST00000303924.4	-	4	1968	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	477					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGGAATGAGTCCTATGAAAT	0.408																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1429-1431)ggA>ggG		hyaluronan synthase 2							116.0	115.0	115.0					8																	122626577		2203	4300	6503	SO:0001819	synonymous_variant	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626577T>C	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1431A>G	8.37:g.122626577T>C							p.G477G	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1968	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		477					Q32MM3	Silent	SNP	ENST00000303924.4	37	c.1431A>G	CCDS6335.1																																																																																				0.408	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		73	659	0	0	0	1	0	73	659				
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230413	77230413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77230413G>A	ENST00000237642.6	+	2	1081	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	FAM47E-STBD1_ENST00000539752.1_5'UTR|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		CAATTCAAGAGAACATGTTCC	0.433																																						ENST00000237642.6																			0											c.(337-339)Gaa>Aaa									55.0	58.0	57.0					4																	77230413		2203	4300	6503	SO:0001583	missense	0							g.chr4:77230413G>A		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.337G>A	4.37:g.77230413G>A	ENSP00000237642:p.Glu113Lys					FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_5'UTR	p.E113K	NM_003943.4	NP_003934.1					2	1081	+									Missense_Mutation	SNP	ENST00000237642.6	37	c.337G>A	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	G	9.127	1.010389	0.19277	.	.	ENSG00000118804	ENST00000237642	T	0.22134	1.97	4.27	-1.57	0.08506	.	0.905414	0.09202	N	0.834469	T	0.16599	0.0399	L	0.29908	0.895	0.09310	N	0.999994	B	0.30068	0.267	B	0.22386	0.039	T	0.17776	-1.0358	10	0.66056	D	0.02	-0.4245	16.0888	0.81076	0.0:0.6392:0.3608:0.0	.	113	O95210	STBD1_HUMAN	K	113	ENSP00000237642:E113K	ENSP00000237642:E113K	E	+	1	0	STBD1	77449437	0.000000	0.05858	0.001000	0.08648	0.308000	0.27856	-0.096000	0.11059	-0.402000	0.07633	0.555000	0.69702	GAA		0.433	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			8	333	0	0	0	1	0	8	333				
USH2A	7399	broad.mit.edu	37	1	216595582	216595582	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216595582A>G	ENST00000307340.3	-	2	483	c.97T>C	c.(97-99)Tca>Cca	p.S33P	USH2A_ENST00000366943.2_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	33					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCTCGTGACTCAGTCAAG	0.453										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(97-99)Tca>Cca		Usher syndrome 2A (autosomal recessive, mild)							76.0	80.0	79.0					1																	216595582		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595582A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.97T>C	1.37:g.216595582A>G	ENSP00000305941:p.Ser33Pro	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P	p.S33P			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	483	-			33					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.97T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718988	0.15372	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20598	2.5;2.49;2.06	5.27	2.96	0.34315	.	0.207614	0.23881	N	0.043646	T	0.16471	0.0396	L	0.49640	1.575	0.33847	D	0.632119	B;B	0.15930	0.015;0.007	B;B	0.16289	0.015;0.007	T	0.14144	-1.0483	10	0.28530	T	0.3	.	5.2408	0.15471	0.7218:0.0:0.1465:0.1317	.	33;33	O75445-2;O75445	.;USH2A_HUMAN	P	33	ENSP00000305941:S33P;ENSP00000355910:S33P;ENSP00000355909:S33P	ENSP00000305941:S33P	S	-	1	0	USH2A	214662205	1.000000	0.71417	0.012000	0.15200	0.291000	0.27294	1.496000	0.35638	0.335000	0.23614	0.482000	0.46254	TCA		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		64	295	0	0	0	1	0	64	295				
ZNF473	25888	broad.mit.edu	37	19	50549780	50549780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549780C>T	ENST00000595661.1	+	6	2575	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	694					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R694*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGCATGAGCGAACTCATGC	0.453																																						ENST00000595661.1																			1	Substitution - Nonsense(1)	p.R694*(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2080-2082)Cga>Tga		zinc finger protein 473							78.0	81.0	80.0					19																	50549780		2203	4300	6503	SO:0001587	stop_gained	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549780C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2080C>T	19.37:g.50549780C>T	ENSP00000472808:p.Arg694*					CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*	p.R694*			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2575	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	694					A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	ENST00000595661.1	37	c.2080C>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	36	5.831686	0.97003	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.21	0.966	0.19667	.	0.679345	0.12907	N	0.429279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.416	4.1994	0.10458	0.6041:0.1829:0.213:0.0	.	.	.	.	X	694;694;682	.	ENSP00000270617:R694X	R	+	1	2	ZNF473	55241592	0.000000	0.05858	0.140000	0.22221	0.027000	0.11550	-0.447000	0.06828	0.111000	0.17947	-0.347000	0.07816	CGA		0.453	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		62	330	0	0	0	1	0	62	330				
PWWP2A	114825	broad.mit.edu	37	5	159546002	159546002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546002C>T	ENST00000307063.7	-	1	428	c.394G>A	c.(394-396)Gag>Aag	p.E132K	PWWP2A_ENST00000456329.3_Missense_Mutation_p.E132K|PWWP2A_ENST00000523662.1_Missense_Mutation_p.E132K	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	132	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCGGCGGCTCCTCGCGCTCC	0.766																																						ENST00000456329.3																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(394-396)Gag>Aag		PWWP domain containing 2A							9.0	12.0	11.0					5																	159546002		1790	3937	5727	SO:0001583	missense	114825							g.chr5:159546002C>T		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.394G>A	5.37:g.159546002C>T	ENSP00000305151:p.Glu132Lys					PWWP2A_ENST00000307063.7_Missense_Mutation_p.E132K|PWWP2A_ENST00000523662.1_Missense_Mutation_p.E132K	p.E132K	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	428	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	132			Pro-rich.		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	37	c.394G>A	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.480504	0.44044	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.59083	1.27;1.27;0.29	3.19	2.2	0.27929	.	0.183149	0.33057	N	0.005322	T	0.37758	0.1015	N	0.22421	0.69	0.18873	N	0.999988	B;B;B	0.22146	0.039;0.065;0.065	B;B;B	0.19946	0.012;0.027;0.027	T	0.15464	-1.0436	10	0.21014	T	0.42	-3.0982	9.7697	0.40582	0.0:0.7876:0.2124:0.0	.	132;132;132	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	K	132	ENSP00000390462:E132K;ENSP00000428143:E132K;ENSP00000305151:E132K	ENSP00000305151:E132K	E	-	1	0	PWWP2A	159478580	0.003000	0.15002	0.996000	0.52242	0.832000	0.47134	0.110000	0.15437	1.782000	0.52362	0.556000	0.70494	GAG		0.766	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			11	120	0	0	0	1	0	11	120				
IFT140	9742	broad.mit.edu	37	16	1636214	1636214	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1636214G>T	ENST00000426508.2	-	10	1435	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	358					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTGCCCAGGAAGTCTGGT	0.567																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1072-1074)Ctg>Atg		intraflagellar transport 140 homolog (Chlamydomonas)							111.0	99.0	103.0					16																	1636214		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1636214G>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1072C>A	16.37:g.1636214G>T	ENSP00000406012:p.Leu358Met					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.L358M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			10	1435	-		Hepatocellular(780;0.219)	358					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1072C>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112710	0.06881	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.58506	0.33	5.13	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);	1.556770	0.03386	N	0.201114	T	0.42426	0.1202	N	0.14661	0.345	0.09310	N	1	P	0.38642	0.641	B	0.29353	0.101	T	0.45556	-0.9253	10	0.33141	T	0.24	.	14.1787	0.65559	0.0:0.2861:0.7139:0.0	.	358	Q96RY7	IF140_HUMAN	M	358	ENSP00000406012:L358M	ENSP00000380562:L358M	L	-	1	2	IFT140	1576215	0.197000	0.23362	0.001000	0.08648	0.003000	0.03518	2.310000	0.43708	0.496000	0.27904	0.591000	0.81541	CTG		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		97	449	1	0	1.46924e-35	1	1.75473e-35	97	449				
CTSA	5476	broad.mit.edu	37	20	44521862	44521862	+	Silent	SNP	C	C	T	rs377543110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44521862C>T	ENST00000372459.2	+	6	797	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	CTSA_ENST00000354880.5_Silent_p.L203L|CTSA_ENST00000191018.5_Silent_p.L202L|CTSA_ENST00000372484.3_Silent_p.L220L|RP3-337O18.9_ENST00000607703.1_RNA|NEURL2_ENST00000372518.4_5'Flank			P10619	PPGB_HUMAN	cathepsin A	202					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCACAGGGGCTGGCTGTGGG	0.552																																						ENST00000372484.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(658-660)Ctg>Ttg		cathepsin A		C	,,	0,4406		0,0,2203	102.0	88.0	93.0		658,604,607	3.2	1.0	20		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CTSA	NM_000308.2,NM_001127695.1,NM_001167594.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	220/499,202/481,203/482	44521862	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44521862C>T	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.604C>T	20.37:g.44521862C>T						RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000354880.5_Silent_p.L203L|CTSA_ENST00000191018.5_Silent_p.L202L|CTSA_ENST00000372459.2_Silent_p.L202L	p.L220L	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN			7	940	+		Myeloproliferative disorder(115;0.0122)	202					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Silent	SNP	ENST00000372459.2	37	c.658C>T	CCDS46609.1																																																																																				0.552	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		45	227	0	0	0	1	0	45	227				
APOBR	55911	broad.mit.edu	37	16	28509778	28509778	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28509778C>T	ENST00000431282.1	+	5	3229	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G	CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Intron|APOBR_ENST00000564831.1_Silent_p.G1082G			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1073					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGCACCCTGGCATGATGCAGG	0.672																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(3244-3246)ggC>ggT		apolipoprotein B receptor							22.0	28.0	26.0					16																	28509778		2036	4152	6188	SO:0001819	synonymous_variant	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28509778C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.3219C>T	16.37:g.28509778C>T						APOBR_ENST00000328423.5_Intron|APOBR_ENST00000431282.1_Silent_p.G1073G	p.G1082G	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			4	3279	+			1073					H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37	c.3246C>T																																																																																					0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		15	50	0	0	0	1	0	15	50				
TBX22	50945	broad.mit.edu	37	X	79286360	79286360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79286360A>G	ENST00000373294.5	+	8	1341	c.1313A>G	c.(1312-1314)aAt>aGt	p.N438S	TBX22_ENST00000373296.3_Missense_Mutation_p.N438S|TBX22_ENST00000373291.1_Missense_Mutation_p.N318S|TBX22_ENST00000442340.1_Missense_Mutation_p.N318S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	438					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAAGCACCTAATTCTACCAAT	0.428																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(952-954)aAt>aGt		T-box 22							133.0	125.0	128.0					X																	79286360		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286360A>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1313A>G	X.37:g.79286360A>G	ENSP00000362390:p.Asn438Ser					TBX22_ENST00000373291.1_Missense_Mutation_p.N318S|TBX22_ENST00000373296.3_Missense_Mutation_p.N438S|TBX22_ENST00000373294.5_Missense_Mutation_p.N438S	p.N318S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			9	1443	+			438					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.953A>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.381000	0.01204	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	3.99	2.81	0.32909	.	7739.210000	0.00166	N	0.000000	T	0.61578	0.2358	L	0.31664	0.95	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.49844	-0.8896	10	0.02654	T	1	.	0.9104	0.01293	0.4871:0.2026:0.1112:0.199	.	438	Q9Y458	TBX22_HUMAN	S	438;318;438;318	ENSP00000362393:N438S;ENSP00000396394:N318S;ENSP00000362390:N438S;ENSP00000362388:N318S	ENSP00000362388:N318S	N	+	2	0	TBX22	79173016	0.983000	0.35010	0.107000	0.21349	0.001000	0.01503	1.172000	0.31908	0.431000	0.26258	-0.804000	0.03201	AAT		0.428	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		166	508	0	0	0	1	0	166	508				
ZNF652	22834	broad.mit.edu	37	17	47394623	47394623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394623C>A	ENST00000362063.2	-	2	783	c.465G>T	c.(463-465)gaG>gaT	p.E155D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E155D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	155	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CACTCTCTTCCTCTTCCTCCT	0.413																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(463-465)gaG>gaT		zinc finger protein 652							142.0	150.0	147.0					17																	47394623		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394623C>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.465G>T	17.37:g.47394623C>A	ENSP00000354686:p.Glu155Asp					ZNF652_ENST00000430262.2_Missense_Mutation_p.E155D	p.E155D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	783	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		155			Glu-rich.		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.465G>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454423	0.12283	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98947	-5.26;-5.26	5.22	3.17	0.36434	.	0.261665	0.44688	N	0.000430	D	0.94673	0.8282	L	0.29908	0.895	0.34843	D	0.740911	B	0.02656	0.0	B	0.06405	0.002	D	0.91675	0.5353	10	0.15499	T	0.54	-18.6572	5.9346	0.19158	0.1395:0.6514:0.1349:0.0741	.	155	Q9Y2D9	ZN652_HUMAN	D	155	ENSP00000354686:E155D;ENSP00000416305:E155D	ENSP00000354686:E155D	E	-	3	2	ZNF652	44749622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.287000	0.33284	1.404000	0.46819	0.655000	0.94253	GAG		0.413	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		19	1030	1	0	8.60227e-14	1	9.30909e-14	19	1030				
MKI67	4288	broad.mit.edu	37	10	129913211	129913211	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129913211G>A	ENST00000368654.3	-	7	1836	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	487					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACCAAAGTTGTTGATATCAA	0.378																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(1459-1461)aaC>aaT		marker of proliferation Ki-67							103.0	104.0	103.0					10																	129913211		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913211G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1461C>T	10.37:g.129913211G>A						MKI67_ENST00000368653.3_Intron	p.N487N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1836	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	487					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.1461C>T	CCDS7659.1																																																																																				0.378	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		19	581	0	0	0	1	0	19	581				
PDE4DIP	9659	broad.mit.edu	37	1	144946641	144946641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946641G>A	ENST00000369354.3	-	5	809	c.620C>T	c.(619-621)aCt>aTt	p.T207I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|RNU2-38P_ENST00000410856.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	207					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCATGCTAGTTGGCTCCTC	0.443			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(1030-1032)aCt>aTt		phosphodiesterase 4D interacting protein							134.0	117.0	122.0					1																	144946641		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144946641G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.620C>T	1.37:g.144946641G>A	ENSP00000358360:p.Thr207Ile					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I	p.T344I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	8	1069	-			207					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1031C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	2.988	-0.208727	0.06140	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.03717	4.75;4.84;4.84;4.85;4.84;3.83;3.84	5.16	-2.16	0.07080	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28258	0.009;0.205;0.032	B;B;B	0.30401	0.007;0.115;0.013	T	0.47636	-0.9102	9	0.33940	T	0.23	.	0.9982	0.01472	0.171:0.2796:0.2715:0.2778	.	207;273;207	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	273;207;207;344;344;207;207;273	ENSP00000327209:T273I;ENSP00000358360:T207I;ENSP00000358363:T207I;ENSP00000435654:T344I;ENSP00000358366:T344I;ENSP00000358357:T207I;ENSP00000358355:T207I	ENSP00000327209:T273I	T	-	2	0	PDE4DIP	143657998	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	-0.162000	0.10964	-0.857000	0.03018	ACT		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		33	295	0	0	0	1	0	33	295				
MROH6	642475	broad.mit.edu	37	8	144654213	144654213	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144654213A>G	ENST00000398882.3	-	2	693	c.437T>C	c.(436-438)tTg>tCg	p.L146S	NAPRT1_ENST00000460623.1_5'Flank|MROH6_ENST00000533679.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	146																	CTGGTCCTCCAACCGCTCGCC	0.672																																						ENST00000398882.3																			0											c.(436-438)tTg>tCg		maestro heat-like repeat family member 6							19.0	22.0	21.0					8																	144654213		1995	4157	6152	SO:0001583	missense	642475							g.chr8:144654213A>G	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.437T>C	8.37:g.144654213A>G	ENSP00000381857:p.Leu146Ser						p.L146S	NM_001100878.1	NP_001094348.1					2	693	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.437T>C	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.033285	0.35893	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	T;T	0.35789	3.34;1.29	4.3	3.11	0.35812	.	.	.	.	.	T	0.40094	0.1103	N	0.19112	0.55	0.36035	D	0.839712	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.964	T	0.47971	-0.9075	9	0.62326	D	0.03	-3.3931	7.7158	0.28704	0.7856:0.2144:0.0:0.0	.	146;146	E9PPP7;A6NGR9	.;CH073_HUMAN	S	146	ENSP00000381857:L146S;ENSP00000436959:L146S	ENSP00000381857:L146S	L	-	2	0	C8orf73	144725356	0.913000	0.31002	0.566000	0.28421	0.059000	0.15707	1.907000	0.39897	0.665000	0.31066	0.374000	0.22700	TTG		0.672	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		5	140	0	0	0	1	0	5	140				
EPM2AIP1	9852	broad.mit.edu	37	3	37033662	37033662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37033662C>T	ENST00000322716.5	-	1	1133	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	303					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACTATCCATTCGGATATGGTA	0.398																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(907-909)Gaa>Aaa		EPM2A (laforin) interacting protein 1							73.0	70.0	71.0					3																	37033662		1881	4101	5982	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033662C>T	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.907G>A	3.37:g.37033662C>T	ENSP00000406027:p.Glu303Lys						p.E303K	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	1133	-			303					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.907G>A	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	8.266	0.812362	0.16537	.	.	ENSG00000178567	ENST00000322716	D	0.83591	-1.74	4.8	3.91	0.45181	.	.	.	.	.	T	0.54208	0.1844	N	0.02539	-0.55	0.09310	N	1	B	0.33198	0.401	B	0.29785	0.107	T	0.54241	-0.8323	9	0.02654	T	1	4.1946	6.531	0.22326	0.0:0.7191:0.1851:0.0957	.	303	Q7L775	EPMIP_HUMAN	K	303	ENSP00000406027:E303K	ENSP00000406027:E303K	E	-	1	0	EPM2AIP1	37008666	0.632000	0.27172	0.747000	0.31113	0.992000	0.81027	1.580000	0.36547	1.210000	0.43336	0.557000	0.71058	GAA		0.398	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		31	328	0	0	0	1	0	31	328				
OR2Z1	284383	broad.mit.edu	37	19	8842076	8842076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8842076G>A	ENST00000324060.2	+	1	761	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTAAGCATGCGCTCAGAGGAG	0.587																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(685-687)cGc>cAc		olfactory receptor, family 2, subfamily Z, member 1							113.0	90.0	98.0					19																	8842076		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842076G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.686G>A	19.37:g.8842076G>A	ENSP00000316284:p.Arg229His						p.R229H	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	761	+			229					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.686G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813852	0.02798	.	.	ENSG00000181733	ENST00000324060	T	0.39229	1.09	4.67	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.737439	0.12441	N	0.468674	T	0.13329	0.0323	N	0.02225	-0.63	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.30327	-0.9982	10	0.15499	T	0.54	.	4.9972	0.14245	0.5627:0.1712:0.2661:0.0	.	229	Q8NG97	OR2Z1_HUMAN	H	229	ENSP00000316284:R229H	ENSP00000316284:R229H	R	+	2	0	OR2Z1	8703076	0.000000	0.05858	0.847000	0.33407	0.021000	0.10359	-0.920000	0.04013	-0.100000	0.12241	-0.287000	0.09952	CGC		0.587	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			70	293	0	0	0	1	0	70	293				
PEG3	5178	broad.mit.edu	37	19	57333086	57333086	+	Missense_Mutation	SNP	G	G	A	rs139872811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57333086G>A	ENST00000326441.9	-	7	965	c.602C>T	c.(601-603)gCg>gTg	p.A201V	PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	201					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A201V(2)|p.A76V(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTTGTTTTCGCCACCACAGG	0.532																																						ENST00000326441.9																			3	Substitution - Missense(3)	p.A201V(2)|p.A76V(1)	large_intestine(3)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(601-603)gCg>gTg		paternally expressed 3		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	176.0	157.0	164.0		602,224,602,227,227,227,602,227	2.0	0.0	19	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	64,64,64,64,64,64,64,64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,benign,benign,benign,benign,benign	201/1589,75/1463,201/1589,76/1465,76/528,76/528,201/1589,76/528	57333086	3,13003	2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57333086G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.602C>T	19.37:g.57333086G>A	ENSP00000326581:p.Ala201Val					ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V|PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V	p.A201V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	965	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	201					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.602C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705777	0.68615	2.27E-4	2.33E-4	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04758	3.56;3.56;4.18;4.18	3.03	1.98	0.26296	.	1.309430	0.05466	N	0.552168	T	0.02380	0.0073	N	0.08118	0	.	.	.	P;P;P;P	0.47253	0.804;0.628;0.628;0.892	B;B;B;B	0.30316	0.078;0.039;0.058;0.114	T	0.40627	-0.9553	9	0.72032	D	0.01	-3.6717	6.4397	0.21843	0.0:0.0:0.5316:0.4684	.	76;201;135;76	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	V	76;76;201;201;201	ENSP00000375589:A76V;ENSP00000221722:A76V;ENSP00000326581:A201V;ENSP00000403051:A201V	ENSP00000221722:A76V	A	-	2	0	ZIM2	62024898	0.051000	0.20477	0.002000	0.10522	0.476000	0.33039	0.604000	0.24164	0.724000	0.32296	0.563000	0.77884	GCG		0.532	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			158	655	0	0	0	1	0	158	655				
PDXDC1	23042	broad.mit.edu	37	16	15098085	15098085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15098085G>A	ENST00000396410.4	+	5	381	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	95					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTTGTTGGGACATAGTCTG	0.353																																						ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(283-285)gGa>gAa		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						162.0	176.0	171.0					16																	15098085		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15098085G>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.284G>A	16.37:g.15098085G>A	ENSP00000379691:p.Gly95Glu					PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E|PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E	p.G95E	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			5	381	+			95					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.284G>A	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944065	0.92593	.	.	ENSG00000179889	ENST00000325823;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.72	5.72	0.89469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.984	D;D;D;D;D;P	0.97110	0.998;1.0;0.995;0.998;0.998;0.885	T	0.43766	-0.9371	10	0.72032	D	0.01	-24.923	19.2382	0.93871	0.0:0.0:1.0:0.0	.	67;80;95;67;95;95	E7EPL4;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	E	80;95;95;67;95	ENSP00000322807:G80E;ENSP00000437835:G95E;ENSP00000379691:G95E;ENSP00000391147:G67E;ENSP00000406703:G95E	ENSP00000322807:G80E	G	+	2	0	PDXDC1	15005586	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.229000	0.95273	2.850000	0.98022	0.650000	0.86243	GGA		0.353	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		36	970	0	0	0	1	0	36	970				
CD207	50489	broad.mit.edu	37	2	71060782	71060782	+	Missense_Mutation	SNP	C	C	T	rs551434216		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71060782C>T	ENST00000410009.3	-	3	605	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	187					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTTACTTTGTCGTTTGAGCAA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19275	0.0		0.001	False		,,,				2504	0.0					ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(559-561)cGa>cAa		CD207 molecule, langerin							68.0	61.0	63.0					2																	71060782		1887	4100	5987	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060782C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.560G>A	2.37:g.71060782C>T	ENSP00000386378:p.Arg187Gln						p.R187Q	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			3	605	-			187						Missense_Mutation	SNP	ENST00000410009.3	37	c.560G>A		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.958792	0.00465	.	.	ENSG00000116031	ENST00000410009	T	0.28454	1.61	4.01	0.32	0.15878	.	0.885835	0.09699	N	0.767266	T	0.09774	0.0240	N	0.02315	-0.6	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33574	-0.9863	10	0.17832	T	0.49	.	2.4971	0.04624	0.2028:0.2341:0.0:0.5631	.	187	Q9UJ71	CLC4K_HUMAN	Q	187	ENSP00000386378:R187Q	ENSP00000386378:R187Q	R	-	2	0	CD207	70914290	0.005000	0.15991	0.036000	0.18154	0.022000	0.10575	-0.415000	0.07106	0.043000	0.15746	-1.087000	0.02190	CGA		0.483	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		27	56	0	0	0	1	0	27	56				
PCDH18	54510	broad.mit.edu	37	4	138452324	138452324	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452324T>G	ENST00000344876.4	-	1	1305	c.919A>C	c.(919-921)Act>Cct	p.T307P	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGAAAAGAGTCAAATGTCCT	0.378																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(919-921)Act>Cct		protocadherin 18							36.0	40.0	39.0					4																	138452324		2201	4299	6500	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452324T>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.919A>C	4.37:g.138452324T>G	ENSP00000355082:p.Thr307Pro					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P	p.T307P	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1305	-	all_hematologic(180;0.24)		307			Cadherin 3.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.919A>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387495	0.42308	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55234	0.53;0.53;0.53	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.000000	0.44688	D	0.000440	T	0.81513	0.4838	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.86612	0.1873	10	0.52906	T	0.07	.	16.3083	0.82859	0.0:0.0:0.0:1.0	.	87;307;307	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	P	307;307;87	ENSP00000355082:T307P;ENSP00000390688:T307P;ENSP00000425903:T87P	ENSP00000355082:T307P	T	-	1	0	PCDH18	138671774	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	6.093000	0.71422	2.250000	0.74265	0.455000	0.32223	ACT		0.378	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		43	203	0	0	0	1	0	43	203				
MRPS21	54460	broad.mit.edu	37	1	150280587	150280587	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150280587C>A	ENST00000369084.5	+	2	636	c.189C>A	c.(187-189)atC>atA	p.I63I	MRPS21_ENST00000309092.7_Silent_p.I63I	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	63					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCGGCGGATCTACAACATGG	0.552																																						ENST00000369084.5																			0				kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(187-189)atC>atA		mitochondrial ribosomal protein S21							62.0	55.0	58.0					1																	150280587		2203	4300	6503	SO:0001819	synonymous_variant	54460				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr1:150280587C>A	AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"""Mitochondrial ribosomal proteins / small subunits"""	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.189C>A	1.37:g.150280587C>A						MRPS21_ENST00000309092.7_Silent_p.I63I	p.I63I			P82921	RT21_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	636	+	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		63					Q5TB11|Q9BST6	Silent	SNP	ENST00000369084.5	37	c.189C>A	CCDS950.1																																																																																				0.552	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035813.1	NM_018997		12	343	1	0	0.000978159	1	0.000988919	12	343				
PCDHA10	56139	broad.mit.edu	37	5	140237244	140237244	+	Silent	SNP	C	C	T	rs200404988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237244C>T	ENST00000307360.5	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGATGGGGGCG	0.682																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1609-1611)cgC>cgT									53.0	57.0	55.0					5																	140237244		2196	4265	6461	SO:0001819	synonymous_variant	0							g.chr5:140237244C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1611C>T	5.37:g.140237244C>T						PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R537R	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1611C>T	CCDS54921.1																																																																																				0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		134	636	0	0	0	1	0	134	636				
GCG	2641	broad.mit.edu	37	2	163003925	163003925	+	Silent	SNP	C	C	T	rs375447933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163003925C>T	ENST00000418842.2	-	3	446	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GCG_ENST00000375497.3_Silent_p.K64K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	64					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AGTCCAGATACTTGCTGTAGT	0.483																																						ENST00000418842.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(190-192)aaG>aaA		glucagon	Exenatide(DB01276)|Phentolamine(DB00692)						243.0	240.0	241.0					2																	163003925		2022	4190	6212	SO:0001819	synonymous_variant	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163003925C>T		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.192G>A	2.37:g.163003925C>T						GCG_ENST00000375497.3_Silent_p.K64K	p.K64K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN			3	446	-			64					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.192G>A	CCDS46439.1																																																																																				0.483	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		289	800	0	0	0	1	0	289	800				
C9orf84	158401	broad.mit.edu	37	9	114454094	114454094	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454094G>T	ENST00000318737.4	-	25	4099	c.3971C>A	c.(3970-3972)tCt>tAt	p.S1324Y	C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394779.3_Missense_Mutation_p.S1285Y	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1324										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTTCTGAGAGTACAATTT	0.373																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(3853-3855)tCt>tAt		chromosome 9 open reading frame 84							73.0	76.0	75.0					9																	114454094		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114454094G>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3971C>A	9.37:g.114454094G>T	ENSP00000322108:p.Ser1324Tyr					C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y|C9orf84_ENST00000318737.4_Missense_Mutation_p.S1324Y	p.S1285Y	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			23	4098	-			1324					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3854C>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778618	0.31502	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.10573	2.86;2.92;2.88;2.88	5.29	4.39	0.52855	.	0.267845	0.27080	N	0.021025	T	0.15912	0.0383	L	0.32530	0.975	0.09310	N	0.999997	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.57720	0.826;0.826;0.826	T	0.03739	-1.1008	10	0.87932	D	0	-5.3437	7.8994	0.29725	0.1807:0.0:0.8193:0.0	.	1250;1324;1285	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Y	1285;1250;938;1324;1324	ENSP00000378259:S1285Y;ENSP00000378257:S1250Y;ENSP00000363405:S1324Y;ENSP00000322108:S1324Y	ENSP00000322108:S1324Y	S	-	2	0	C9orf84	113493915	1.000000	0.71417	0.434000	0.26772	0.393000	0.30537	1.863000	0.39459	1.457000	0.47850	0.467000	0.42956	TCT		0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		27	327	1	0	1.77063e-15	1	1.9355e-15	27	327				
COCH	1690	broad.mit.edu	37	14	31348032	31348032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31348032C>T	ENST00000396618.3	+	5	311	c.255C>T	c.(253-255)aaC>aaT	p.N85N	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.N85N|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Silent_p.N85N|COCH_ENST00000382493.4_5'Flank	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	85	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TAATCAGCAACTCAGGGGGAC	0.458																																						ENST00000396618.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(253-255)aaC>aaT		cochlin							103.0	91.0	95.0					14																	31348032		2203	4300	6503	SO:0001819	synonymous_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31348032C>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.255C>T	14.37:g.31348032C>T						COCH_ENST00000475087.1_Silent_p.N85N|COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.N85N	p.N85N	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	5	311	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		85			LCCL.		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	c.255C>T	CCDS9640.1																																																																																				0.458	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		45	266	0	0	0	1	0	45	266				
FSTL5	56884	broad.mit.edu	37	4	162307033	162307033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:162307033C>T	ENST00000306100.5	-	16	2846	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S|FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	804						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAAACAAGCCACTGTCCTGG	0.443																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2410-2412)Ggc>Agc		follistatin-like 5							209.0	191.0	197.0					4																	162307033		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307033C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2410G>A	4.37:g.162307033C>T	ENSP00000305334:p.Gly804Ser					FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S|FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S	p.G804S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2846	-	all_hematologic(180;0.24)		804					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2410G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930608	0.92389	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.73	5.73	0.89815	.	0.044902	0.85682	N	0.000000	T	0.54287	0.1849	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.55198	-0.8178	10	0.72032	D	0.01	.	18.8882	0.92388	0.0:1.0:0.0:0.0	.	794;803;804	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	804;803;794;803	ENSP00000305334:G804S;ENSP00000368462:G803S;ENSP00000389270:G794S;ENSP00000440409:G803S	ENSP00000305334:G804S	G	-	1	0	FSTL5	162526483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.700000	0.92200	0.655000	0.94253	GGC		0.443	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		153	614	0	0	0	1	0	153	614				
CABIN1	23523	broad.mit.edu	37	22	24456585	24456585	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24456585G>A	ENST00000398319.2	+	12	1983	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	CABIN1_ENST00000405822.2_Missense_Mutation_p.C483Y|CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	533					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAGGGACTGCAGCAACAAG	0.622																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1597-1599)tGc>tAc		calcineurin binding protein 1							43.0	39.0	40.0					22																	24456585		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24456585G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1598G>A	22.37:g.24456585G>A	ENSP00000381364:p.Cys533Tyr					CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y|CABIN1_ENST00000405822.2_Missense_Mutation_p.C483Y	p.C533Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			12	1983	+			533					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.1598G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647862	0.67358	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75050	-0.9;-0.9;-0.9	5.19	5.19	0.71726	.	0.048717	0.85682	D	0.000000	T	0.77738	0.4175	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.59487	0.858;0.726	T	0.75912	-0.3150	10	0.36615	T	0.2	.	14.5566	0.68103	0.0:0.1575:0.8425:0.0	.	483;533	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Y	533;483;533	ENSP00000263119:C533Y;ENSP00000384694:C483Y;ENSP00000381364:C533Y	ENSP00000263119:C533Y	C	+	2	0	CABIN1	22786585	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.950000	0.70265	2.592000	0.87571	0.644000	0.83932	TGC		0.622	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		39	150	0	0	0	1	0	39	150				
TSEN54	283989	broad.mit.edu	37	17	73517527	73517527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73517527G>A	ENST00000333213.6	+	7	595	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	187					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTAACCTGGATGCCAGCGT	0.627																																						ENST00000333213.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13						c.(559-561)Gat>Aat		TSEN54 tRNA splicing endonuclease subunit							91.0	80.0	84.0					17																	73517527		2203	4300	6503	SO:0001583	missense	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73517527G>A	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.559G>A	17.37:g.73517527G>A	ENSP00000327487:p.Asp187Asn						p.D187N	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	595	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		187					Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	c.559G>A	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979469	0.34942	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.57436	0.4	5.63	3.62	0.41486	.	0.277358	0.40818	N	0.001015	T	0.58235	0.2108	M	0.62723	1.935	0.33845	D	0.631864	D	0.57899	0.981	P	0.51701	0.677	T	0.70317	-0.4905	10	0.51188	T	0.08	-9.0635	11.425	0.50004	0.0682:0.1264:0.8054:0.0	.	187	Q7Z6J9	SEN54_HUMAN	N	86;187	ENSP00000327487:D187N	ENSP00000327487:D187N	D	+	1	0	TSEN54	71029122	1.000000	0.71417	0.985000	0.45067	0.494000	0.33585	3.460000	0.53028	0.723000	0.32274	0.655000	0.94253	GAT		0.627	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		61	278	0	0	0	1	0	61	278				
SHCBP1	79801	broad.mit.edu	37	16	46629512	46629512	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46629512C>T	ENST00000303383.3	-	10	1682	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	472					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTGCTGATGTCCGCACTGTGA	0.453																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1414-1416)cgG>cgA		SHC SH2-domain binding protein 1							102.0	91.0	95.0					16																	46629512		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46629512C>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1416G>A	16.37:g.46629512C>T							p.R472R	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			10	1682	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	472					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.1416G>A	CCDS10720.1																																																																																				0.453	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		49	386	0	0	0	1	0	49	386				
ZNF512B	57473	broad.mit.edu	37	20	62595140	62595140	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62595140A>T	ENST00000450537.1	-	9	1666		c.e9+1		ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGCTGCCTTACCTTCTGACA	0.637																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.e9+1		zinc finger protein 512B							85.0	84.0	84.0					20																	62595140		2203	4300	6503	SO:0001630	splice_region_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62595140A>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1605+1T>A	20.37:g.62595140A>T						ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site				Q96KM6	Z512B_HUMAN			9	1666	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)							Q08AK9|Q9ULM4	Splice_Site	SNP	ENST00000450537.1	37		CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811542	0.70797	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8107	0.52181	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF512B	62065584	1.000000	0.71417	0.982000	0.44146	0.877000	0.50540	6.611000	0.74183	1.611000	0.50210	0.383000	0.25322	.		0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	Intron	153	646	0	0	0	1	0	153	646				
RNF214	257160	broad.mit.edu	37	11	117105005	117105005	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117105005T>C	ENST00000531452.1	+	2	63	c.17T>C	c.(16-18)gTt>gCt	p.V6A	RNF214_ENST00000530849.1_Missense_Mutation_p.V6A|RNF214_ENST00000531287.1_Missense_Mutation_p.V6A|PCSK7_ENST00000320934.3_5'Flank|RNF214_ENST00000300650.4_Missense_Mutation_p.V6A	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	6							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCGTCTGAGGTTGCTGGTGTT	0.453																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(16-18)gTt>gCt		ring finger protein 214							157.0	159.0	159.0					11																	117105005		1991	4170	6161	SO:0001583	missense	257160						zinc ion binding	g.chr11:117105005T>C	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.17T>C	11.37:g.117105005T>C	ENSP00000431643:p.Val6Ala					RNF214_ENST00000531452.1_Missense_Mutation_p.V6A|RNF214_ENST00000300650.4_Missense_Mutation_p.V6A|RNF214_ENST00000531287.1_Missense_Mutation_p.V6A	p.V6A			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	1	27	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	6					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.17T>C	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933225	0.73442	.	.	ENSG00000167257	ENST00000534428;ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.64438	-0.08;0.63;-0.1;0.63	4.86	4.86	0.63082	.	.	.	.	.	T	0.66137	0.2759	N	0.22421	0.69	0.24531	N	0.994112	B;D	0.58268	0.135;0.982	B;D	0.70227	0.037;0.968	T	0.58053	-0.7704	9	0.87932	D	0	-1.7778	10.7639	0.46281	0.0:0.0:0.0:1.0	.	6;6	B4DTD1;Q8ND24	.;RN214_HUMAN	A	6	ENSP00000435361:V6A;ENSP00000431643:V6A;ENSP00000432903:V6A;ENSP00000300650:V6A	ENSP00000300650:V6A	V	+	2	0	RNF214	116610215	0.863000	0.29885	0.960000	0.40013	0.912000	0.54170	1.284000	0.33249	2.027000	0.59764	0.533000	0.62120	GTT		0.453	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		112	552	0	0	0	1	0	112	552				
TKT	7086	broad.mit.edu	37	3	53265481	53265481	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265481G>A	ENST00000462138.1	-	7	922	c.834C>T	c.(832-834)atC>atT	p.I278I	TKT_ENST00000423525.2_Silent_p.I278I|TKT_ENST00000296289.6_Silent_p.I231I|TKT_ENST00000423516.1_Silent_p.I286I|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	278					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TTTTGCTCTGGATCTGGCTGT	0.552																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(832-834)atC>atT		transketolase	Thiamine(DB00152)						159.0	130.0	140.0					3																	53265481		2203	4300	6503	SO:0001819	synonymous_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53265481G>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.834C>T	3.37:g.53265481G>A						TKT_ENST00000296289.6_Silent_p.I231I|TKT_ENST00000423525.2_Silent_p.I278I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I286I	p.I278I			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	7	922	-		Prostate(884;0.0959)	278					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	c.834C>T	CCDS2871.1																																																																																				0.552	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			51	223	0	0	0	1	0	51	223				
LTBP4	8425	broad.mit.edu	37	19	41135381	41135381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41135381C>T	ENST00000308370.7	+	34	4798	c.4798C>T	c.(4798-4800)Cgc>Tgc	p.R1600C	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1601	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCTCCTTCCGCTGCATCTG	0.706																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4798-4800)Cgc>Tgc		latent transforming growth factor beta binding protein 4							28.0	32.0	31.0					19																	41135381		2159	4258	6417	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41135381C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4798C>T	19.37:g.41135381C>T	ENSP00000311905:p.Arg1600Cys					LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C	p.R1600C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	4798	+			1601			EGF-like 16.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4798C>T		.	.	.	.	.	.	.	.	.	.	C	18.70	3.679465	0.68042	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D	0.92545	-3.06;-3.06;-3.06	3.82	3.82	0.43975	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.35936	N	0.002889	D	0.95322	0.8482	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.977;0.977;0.991;0.986;0.986	D	0.95356	0.8451	9	0.87932	D	0	.	11.0964	0.48147	0.0:0.8112:0.1888:0.0	.	361;613;1533;1601;1563	F5GYA5;Q8N2S1-4;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	C	1563;1600;1533;361	ENSP00000204005:R1563C;ENSP00000311905:R1600C;ENSP00000380031:R1533C	ENSP00000204005:R1563C	R	+	1	0	LTBP4	45827221	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.862000	0.27899	2.136000	0.66102	0.563000	0.77884	CGC		0.706	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		27	258	0	0	0	1	0	27	258				
RPL23AP53	644128	broad.mit.edu	37	8	163213	163213	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:163213A>G	ENST00000606975.1	-	0	708									ribosomal protein L23a pseudogene 53																		AAAGATACACATGTATTTAGA	0.318																																						ENST00000606975.1																			0																																																			0							g.chr8:163213A>G			8p23.3	2014-06-17			ENSG00000223508	ENSG00000223508			35921	pseudogene	pseudogene						19123937	Standard	NR_003572		Approved		uc010lrb.4				8.37:g.163213A>G														0	708	-									RNA	SNP	ENST00000606975.1	37																																																																																						0.318	RPL23AP53-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470409.1	NR_003572		11	304	0	0	0	1	0	11	304				
CCDC130	81576	broad.mit.edu	37	19	13869941	13869941	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13869941C>T	ENST00000586600.1	+	9	931	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M			P13994	CC130_HUMAN	coiled-coil domain containing 130	143					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAGCTGGAGACGGACGCCATG	0.662																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(427-429)aCg>aTg		coiled-coil domain containing 130							29.0	29.0	29.0					19																	13869941		2202	4298	6500	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13869941C>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.428C>T	19.37:g.13869941C>T	ENSP00000465776:p.Thr143Met					CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M|CCDC130_ENST00000587019.1_3'UTR	p.T143M			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		9	931	+			143					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.428C>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163654	0.57476	.	.	ENSG00000104957	ENST00000221554	T	0.30714	1.52	5.27	3.15	0.36227	.	0.144833	0.64402	N	0.000009	T	0.24774	0.0601	L	0.48174	1.505	0.80722	D	1	P;P	0.39003	0.502;0.654	B;B	0.35770	0.21;0.21	T	0.02603	-1.1135	10	0.46703	T	0.11	-11.8772	9.6341	0.39798	0.0:0.8283:0.0:0.1717	.	143;143	B3KUZ1;P13994	.;CC130_HUMAN	M	143	ENSP00000221554:T143M	ENSP00000221554:T143M	T	+	2	0	CCDC130	13730941	0.999000	0.42202	0.609000	0.28983	0.993000	0.82548	4.152000	0.58111	0.625000	0.30304	0.561000	0.74099	ACG		0.662	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		25	138	0	0	0	1	0	25	138				
KLHL23	151230	broad.mit.edu	37	2	170606212	170606212	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170606212T>A	ENST00000392647.2	+	4	1891	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	KLHL23_ENST00000602521.1_Silent_p.S56S|KLHL23_ENST00000272797.4_Silent_p.S549S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	549										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCATGCGGTCTCATGGGTGTG	0.378																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(1645-1647)tcT>tcA		kelch-like family member 23							215.0	209.0	211.0					2																	170606212		2203	4300	6503	SO:0001819	synonymous_variant	151230							g.chr2:170606212T>A	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1647T>A	2.37:g.170606212T>A						KLHL23_ENST00000272797.4_Silent_p.S549S|KLHL23_ENST00000602521.1_Silent_p.S56S	p.S549S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			4	1891	+			549					Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	c.1647T>A	CCDS2236.1																																																																																				0.378	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		56	820	0	0	0	1	0	56	820				
YTHDC1	91746	broad.mit.edu	37	4	69203124	69203124	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69203124C>A	ENST00000344157.4	-	4	839	c.504G>T	c.(502-504)caG>caT	p.Q168H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	168					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCTTAGAAGACTGGCTGGATC	0.448																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(502-504)caG>caT		YTH domain containing 1							92.0	84.0	86.0					4																	69203124		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69203124C>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.504G>T	4.37:g.69203124C>A	ENSP00000339245:p.Gln168His					YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H	p.Q168H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	839	-			168					Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.504G>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974390	0.18736	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.31247	1.98;1.5	5.55	-0.464	0.12160	.	0.373282	0.30556	N	0.009378	T	0.07234	0.0183	N	0.01874	-0.695	0.26789	N	0.969434	B;B	0.14438	0.01;0.0	B;B	0.12837	0.008;0.0	T	0.18681	-1.0329	10	0.13108	T	0.6	.	0.0924	0.00041	0.2468:0.2578:0.1973:0.2981	.	168;168	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	168	ENSP00000339245:Q168H;ENSP00000347888:Q168H	ENSP00000339245:Q168H	Q	-	3	2	YTHDC1	68885719	0.346000	0.24844	1.000000	0.80357	0.992000	0.81027	-0.417000	0.07088	0.137000	0.18759	0.460000	0.39030	CAG		0.448	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		86	375	1	0	2.43056e-48	1	2.99958e-48	86	375				
CAND2	23066	broad.mit.edu	37	3	12856659	12856659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12856659C>T	ENST00000456430.2	+	8	1067	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	CAND2_ENST00000295989.5_Silent_p.S249S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	342					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGAGTACAGCGATGACGATG	0.612																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1024-1026)agC>agT		cullin-associated and neddylation-dissociated 2 (putative)							59.0	67.0	64.0					3																	12856659		2155	4252	6407	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856659C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1026C>T	3.37:g.12856659C>T						CAND2_ENST00000295989.5_Silent_p.S249S	p.S342S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			8	1067	+			342					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.1026C>T	CCDS54554.1																																																																																				0.612	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		70	304	0	0	0	1	0	70	304				
PLS1	5357	broad.mit.edu	37	3	142430842	142430842	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142430842T>C	ENST00000337777.3	+	16	2096	c.1883T>C	c.(1882-1884)aTa>aCa	p.I628T	PLS1_ENST00000497002.1_Missense_Mutation_p.I628T|PLS1_ENST00000457734.2_Missense_Mutation_p.I628T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	628						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTGAACAGAATAAAATAATCA	0.373																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(1882-1884)aTa>aCa		plastin 1							97.0	95.0	96.0					3																	142430842		2203	4299	6502	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142430842T>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1883T>C	3.37:g.142430842T>C	ENSP00000336831:p.Ile628Thr					PLS1_ENST00000497002.1_Missense_Mutation_p.I628T|PLS1_ENST00000457734.2_Missense_Mutation_p.I628T	p.I628T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			16	2096	+			628					A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.1883T>C	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486437	0.44147	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	T;T;T	0.51071	0.72;0.72;0.72	5.69	5.69	0.88448	.	0.492528	0.25701	N	0.028867	T	0.34687	0.0906	N	0.14661	0.345	0.32581	N	0.528457	B	0.09022	0.002	B	0.08055	0.003	T	0.44574	-0.9319	10	0.87932	D	0	-4.7218	15.9507	0.79835	0.0:0.0:0.0:1.0	.	628	Q14651	PLSI_HUMAN	T	628	ENSP00000387890:I628T;ENSP00000336831:I628T;ENSP00000418700:I628T	ENSP00000336831:I628T	I	+	2	0	PLS1	143913532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.051000	0.49885	2.178000	0.69098	0.454000	0.30748	ATA		0.373	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		110	446	0	0	0	1	0	110	446				
RAB3D	9545	broad.mit.edu	37	19	11436108	11436108	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11436108G>T	ENST00000222120.3	-	5	886	c.626C>A	c.(625-627)gCt>gAt	p.A209D	CTC-510F12.4_ENST00000586356.1_RNA|CTC-510F12.6_ENST00000586051.1_RNA|RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	209					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGGGGCTGGAGCATCCCCCAC	0.667																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(625-627)gCt>gAt		RAB3D, member RAS oncogene family							26.0	25.0	25.0					19																	11436108		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11436108G>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.626C>A	19.37:g.11436108G>T	ENSP00000222120:p.Ala209Asp					TSPAN16_ENST00000316737.1_Intron|RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D	p.A209D	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			5	886	-			209						Missense_Mutation	SNP	ENST00000222120.3	37	c.626C>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639183	0.29157	.	.	ENSG00000105514	ENST00000222120	T	0.62788	0.0	5.05	4.02	0.46733	.	0.702320	0.13155	N	0.409570	T	0.40815	0.1132	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.21999	-1.0229	10	0.23891	T	0.37	.	10.7626	0.46274	0.0896:0.0:0.9104:0.0	.	209	O95716	RAB3D_HUMAN	D	209	ENSP00000222120:A209D	ENSP00000222120:A209D	A	-	2	0	RAB3D	11297108	0.016000	0.18221	0.003000	0.11579	0.593000	0.36681	1.842000	0.39250	1.362000	0.46000	0.455000	0.32223	GCT		0.667	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		34	111	1	0	9.65021e-13	1	1.03847e-12	34	111				
SLC34A3	142680	broad.mit.edu	37	9	140128878	140128878	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128878C>T	ENST00000538474.1	+	11	1328	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC34A3_ENST00000361134.2_Silent_p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	368					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTTCCCCTTCCCGCTGGGCT	0.716																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1102-1104)ttC>ttT		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							9.0	12.0	11.0					9																	140128878		2146	4241	6387	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128878C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1104C>T	9.37:g.140128878C>T						SLC34A3_ENST00000361134.2_Silent_p.F368F	p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1328	+	all_cancers(76;0.0926)		368					A2BFA1	Silent	SNP	ENST00000538474.1	37	c.1104C>T	CCDS7038.1																																																																																				0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		30	107	0	0	0	1	0	30	107				
SLC10A4	201780	broad.mit.edu	37	4	48486146	48486146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48486146G>A	ENST00000273861.4	+	1	787	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.V190L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTCCCTGCTGGTTGACGGCGA	0.617																																						ENST00000273861.4																			1	Substitution - Missense(1)	p.V190L(1)	ovary(1)	central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(568-570)Gtt>Att		solute carrier family 10, member 4							54.0	48.0	50.0					4																	48486146		2203	4300	6503	SO:0001583	missense	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48486146G>A	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.568G>A	4.37:g.48486146G>A	ENSP00000273861:p.Val190Ile						p.V190I	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN			1	787	+			190					Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	37	c.568G>A	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953974	0.73902	.	.	ENSG00000145248	ENST00000273861	T	0.11604	2.76	5.83	4.99	0.66335	.	0.111035	0.64402	D	0.000011	T	0.20170	0.0485	M	0.62723	1.935	0.44976	D	0.997994	P	0.41710	0.76	P	0.45538	0.484	T	0.00855	-1.1539	10	0.54805	T	0.06	-23.9258	17.0391	0.86483	0.0:0.1272:0.8728:0.0	.	190	Q96EP9	NTCP4_HUMAN	I	190	ENSP00000273861:V190I	ENSP00000273861:V190I	V	+	1	0	SLC10A4	48180903	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	6.366000	0.73095	1.460000	0.47911	0.491000	0.48974	GTT		0.617	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		67	280	0	0	0	1	0	67	280				
GYS1	2997	broad.mit.edu	37	19	49473039	49473039	+	Missense_Mutation	SNP	G	G	A	rs371546215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49473039G>A	ENST00000323798.3	-	15	2079	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	GYS1_ENST00000263276.6_Missense_Mutation_p.A564V|GYS1_ENST00000544287.1_Missense_Mutation_p.A261V|GYS1_ENST00000541188.1_Missense_Mutation_p.A548V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	628					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACCGCATCCGCCTCGTTGGG	0.612																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1882-1884)gCg>gTg		glycogen synthase 1 (muscle)		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	63.0	58.0	60.0		1691,1883	3.3	0.7	19		60	0,8600		0,0,4300	no	missense,missense	GYS1	NM_001161587.1,NM_002103.4	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	564/674,628/738	49473039	1,13005	2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49473039G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1883C>T	19.37:g.49473039G>A	ENSP00000317904:p.Ala628Val					GYS1_ENST00000541188.1_Missense_Mutation_p.A548V|GYS1_ENST00000544287.1_Missense_Mutation_p.A261V|GYS1_ENST00000263276.6_Missense_Mutation_p.A564V	p.A628V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	15	2079	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	628					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1883C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988775	0.18966	2.27E-4	0.0	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.43	3.3	0.37823	.	0.246452	0.40222	N	0.001156	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P	0.41929	0.765;0.529;0.637	B;B;B	0.34301	0.179;0.102;0.179	T	0.10847	-1.0612	10	0.11485	T	0.65	-7.818	9.6035	0.39619	0.1748:0.0:0.8252:0.0	.	548;564;628	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	V	628;564;548;261	ENSP00000317904:A628V;ENSP00000263276:A564V;ENSP00000437922:A548V;ENSP00000444004:A261V	ENSP00000263276:A564V	A	-	2	0	GYS1	54164851	0.932000	0.31603	0.665000	0.29768	0.152000	0.21847	3.622000	0.54217	0.767000	0.33267	-0.140000	0.14226	GCG		0.612	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		51	230	0	0	0	1	0	51	230				
ELFN2	114794	broad.mit.edu	37	22	37769443	37769443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769443C>T	ENST00000402918.2	-	3	2917	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	711					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCGGGAAAGCTGTGCCGGTG	0.716																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2131-2133)aGc>aAc		extracellular leucine-rich repeat and fibronectin type III domain containing 2							25.0	25.0	25.0					22																	37769443		2192	4297	6489	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769443C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2132G>A	22.37:g.37769443C>T	ENSP00000385277:p.Ser711Asn					ELFN2_ENST00000349653.3_Missense_Mutation_p.S711N|RP1-63G5.5_ENST00000430883.1_RNA	p.S711N	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2917	-	Melanoma(58;0.0574)		711					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.2132G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303815	0.81136	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.59772	0.24;0.24	4.93	3.88	0.44766	.	0.226336	0.47093	D	0.000245	T	0.70159	0.3192	L	0.60455	1.87	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	T	0.73139	-0.4077	10	0.87932	D	0	-38.5943	11.9074	0.52719	0.0:0.5396:0.4604:0.0	.	711	Q5R3F8	PPR29_HUMAN	N	711	ENSP00000300147:S711N;ENSP00000385277:S711N	ENSP00000300147:S711N	S	-	2	0	ELFN2	36099389	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.265000	0.75225	0.561000	0.74099	AGC		0.716	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		14	73	0	0	0	1	0	14	73				
PAPPA2	60676	broad.mit.edu	37	1	176526268	176526268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176526268G>A	ENST00000367662.3	+	2	1974	c.810G>A	c.(808-810)gaG>gaA	p.E270E	PAPPA2_ENST00000367661.3_Silent_p.E270E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	270					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGGCGGGAGCGGCTGCTGC	0.572																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(808-810)gaG>gaA		pappalysin 2							40.0	40.0	40.0					1																	176526268		1924	4144	6068	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526268G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.810G>A	1.37:g.176526268G>A						PAPPA2_ENST00000367661.3_Silent_p.E270E	p.E270E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1974	+			270					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.810G>A	CCDS41438.1																																																																																				0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			64	201	0	0	0	1	0	64	201				
SMTN	6525	broad.mit.edu	37	22	31484516	31484516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484516C>A	ENST00000347557.2	+	4	436	c.218C>A	c.(217-219)gCt>gAt	p.A73D	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.A73D|SMTN_ENST00000333137.7_Missense_Mutation_p.A73D	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	73					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CAGCGGGAAGCTGAGCAGCGG	0.627																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(217-219)gCt>gAt		smoothelin							66.0	73.0	71.0					22																	31484516		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484516C>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.218C>A	22.37:g.31484516C>A	ENSP00000328635:p.Ala73Asp					SMTN_ENST00000347557.2_Missense_Mutation_p.A73D|SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.A73D	p.A73D	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			4	436	+			73					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.218C>A	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.18|18.18	3.567316|3.567316	0.65651|0.65651	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	T;T;T;T;T;T|.	0.46819|.	0.86;0.88;0.95;0.95;0.95;0.95|.	4.79|4.79	3.66|3.66	0.41972|0.41972	.|.	0.000000|.	0.37761|.	N|.	0.001950|.	T|T	0.40119|0.40119	0.1104|0.1104	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;D;D;P;P|.	0.89917|.	0.999;0.906;1.0;1.0;0.906;0.939|.	D;P;D;D;P;P|.	0.87578|.	0.997;0.628;0.998;0.998;0.628;0.494|.	T|T	0.17228|0.17228	-1.0376|-1.0376	10|5	0.44086|.	T|.	0.13|.	-11.835|-11.835	12.1168|12.1168	0.53870|0.53870	0.251:0.749:0.0:0.0|0.251:0.749:0.0:0.0	.|.	129;127;65;73;73;73|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	D|R	127;127;73;73;73;73;65;65|127	ENSP00000399432:A127D;ENSP00000401341:A127D;ENSP00000351593:A73D;ENSP00000328635:A73D;ENSP00000329532:A73D;ENSP00000394637:A65D|.	ENSP00000329393:A73D|.	A|S	+|+	2|3	0|2	SMTN|SMTN	29814516|29814516	0.705000|0.705000	0.27846|0.27846	0.978000|0.978000	0.43139|0.43139	0.991000|0.991000	0.79684|0.79684	1.138000|1.138000	0.31491|0.31491	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.627	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		63	640	1	0	2.6465e-34	1	3.14731e-34	63	640				
C19orf12	83636	broad.mit.edu	37	19	30199248	30199248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30199248C>T	ENST00000392278.2	-	2	232	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I|C19orf12_ENST00000323670.9_Missense_Mutation_p.V25I|C19orf12_ENST00000392275.1_Intron	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	36					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GAGTGCTTGACAGCCGCCTTC	0.617																																						ENST00000323670.9																			0											c.(73-75)Gtc>Atc		chromosome 19 open reading frame 12							66.0	68.0	67.0					19																	30199248		1947	4139	6086	SO:0001583	missense	83636					integral to membrane		g.chr19:30199248C>T	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.106G>A	19.37:g.30199248C>T	ENSP00000376103:p.Val36Ile					C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000392278.2_Missense_Mutation_p.V36I|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I	p.V25I	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		2	212	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		25					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	37	c.73G>A	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804629	0.16467	.	.	ENSG00000131943	ENST00000323670;ENST00000392278;ENST00000342680	D;D;D	0.82255	-1.59;-1.59;-1.59	6.08	-0.232	0.13082	.	0.360249	0.28398	N	0.015489	T	0.66208	0.2766	L	0.28274	0.84	0.37127	D	0.901079	B;B	0.18863	0.011;0.031	B;B	0.18871	0.016;0.023	T	0.51458	-0.8703	10	0.19147	T	0.46	-25.3389	6.3088	0.21153	0.12:0.5333:0.0:0.3467	.	25;36	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	I	25;36;25	ENSP00000313332:V25I;ENSP00000376103:V36I;ENSP00000345497:V25I	ENSP00000313332:V25I	V	-	1	0	C19orf12	34891088	0.001000	0.12720	0.307000	0.25127	0.060000	0.15804	-0.075000	0.11431	0.163000	0.19507	0.591000	0.81541	GTC		0.617	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		100	366	0	0	0	1	0	100	366				
UNC45B	146862	broad.mit.edu	37	17	33495173	33495173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495173G>T	ENST00000268876.5	+	10	1342	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H|RP11-799D4.3_ENST00000585646.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	415					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGGCAACCAGCTGCTGGGAC	0.582																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1243-1245)caG>caT		unc-45 homolog B (C. elegans)							110.0	86.0	94.0					17																	33495173		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495173G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1245G>T	17.37:g.33495173G>T	ENSP00000268876:p.Gln415His					UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H	p.Q415H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1342	+		Ovarian(249;0.17)	415					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1245G>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996034	0.54147	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.47869	1.5;3.48;1.5;0.83	5.02	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.241992	0.43260	D	0.000585	T	0.41604	0.1166	N	0.14661	0.345	0.37898	D	0.930937	D;P;B	0.61080	0.989;0.701;0.314	P;B;P	0.58820	0.846;0.435;0.447	T	0.40534	-0.9558	10	0.42905	T	0.14	-31.7403	8.7666	0.34706	0.2965:0.0:0.7035:0.0	.	415;415;415	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	415	ENSP00000378071:Q415H;ENSP00000268876:Q415H;ENSP00000412840:Q415H;ENSP00000367710:Q415H	ENSP00000268876:Q415H	Q	+	3	2	UNC45B	30519286	0.991000	0.36638	1.000000	0.80357	0.951000	0.60555	1.293000	0.33353	0.834000	0.34852	-0.766000	0.03442	CAG		0.582	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		39	203	1	0	3.38236e-24	1	3.86174e-24	39	203				
WDR34	89891	broad.mit.edu	37	9	131397201	131397201	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397201C>A	ENST00000372715.2	-	7	1042		c.e7-1		WDR34_ENST00000483181.1_Splice_Site	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34							axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGGGGATGCTGTGGAGAAA	0.627											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.e7-1		WD repeat domain 34							20.0	24.0	22.0					9																	131397201		2203	4299	6502	SO:0001630	splice_region_variant	89891					cytoplasm		g.chr9:131397201C>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.982-1G>T	9.37:g.131397201C>A			OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_ENST00000483181.1_Splice_Site		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			7	1042	-								Q5VXV4|Q9BV46	Splice_Site	SNP	ENST00000372715.2	37		CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520168	0.27211	.	.	ENSG00000119333	ENST00000372715	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8239	0.88658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR34	130437022	1.000000	0.71417	0.969000	0.41365	0.017000	0.09413	4.909000	0.63314	2.448000	0.82819	0.561000	0.74099	.		0.627	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844	Intron	31	130	1	0	2.61193e-14	1	2.83483e-14	31	130				
GAS5-AS1	100506046	broad.mit.edu	37	1	173833329	173833329	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173833329T>C	ENST00000602767.1	+	0	1388				GAS5_ENST00000363146.1_RNA|GAS5_ENST00000364822.2_RNA|GAS5_ENST00000363859.1_RNA|GAS5_ENST00000363840.1_RNA|GAS5_ENST00000365524.1_RNA|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000385578.2_RNA	NR_037605.1				GAS5 antisense RNA 1																		AGTGAGAGAGTTCAAGTTGGA	0.358																																						ENST00000363840.1																			0																				51.0	49.0	50.0					1																	173833329		875	1991	2866			0							g.chr1:173833329T>C	AF088026		1q25.1	2013-02-15	2012-08-15		ENSG00000270084	ENSG00000270084		"""Long non-coding RNAs"""	44119	non-coding RNA	RNA, long non-coding			"""GAS5 antisense RNA 1 (non-protein coding)"""				Standard	NR_037605		Approved		uc021pfa.1		OTTHUMG00000184089		1.37:g.173833329T>C								NR_003938.1						0	31	-									RNA	SNP	ENST00000602767.1	37																																																																																						0.358	GAS5-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000468012.1	NR_037605		26	175	0	0	0	1	0	26	175				
ZNF470	388566	broad.mit.edu	37	19	57089370	57089370	+	Missense_Mutation	SNP	G	G	A	rs140617949	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089370G>A	ENST00000330619.8	+	6	2259	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGCACACCTCGCGCAACATCA	0.458													G|||	11	0.00219649	0.0	0.0	5008	,	,		21953	0.0		0.002	False		,,,				2504	0.0092					ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1573-1575)Gcg>Acg		zinc finger protein 470		G	THR/ALA	2,4404	6.2+/-15.9	0,2,2201	68.0	67.0	67.0		1573	2.1	0.5	19	dbSNP_134	67	10,8590	7.1+/-27.0	0,10,4290	yes	missense	ZNF470	NM_001001668.3	58	0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923	benign	525/718	57089370	12,12994	2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089370G>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1573G>A	19.37:g.57089370G>A	ENSP00000333223:p.Ala525Thr					ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T|ZNF470_ENST00000601902.1_Intron	p.A525T	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2259	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	525					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1573G>A	CCDS33122.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	2.273	-0.366479	0.05069	4.54E-4	0.001163	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.08008	3.14;3.14	4.37	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.27351	0.176	B	0.15052	0.012	T	0.40961	-0.9535	9	0.02654	T	1	.	5.5542	0.17107	0.2087:0.1704:0.6209:0.0	.	525	Q6ECI4	ZN470_HUMAN	T	525	ENSP00000375590:A525T;ENSP00000333223:A525T	ENSP00000333223:A525T	A	+	1	0	ZNF470	61781182	0.000000	0.05858	0.481000	0.27354	0.812000	0.45895	0.041000	0.13927	1.066000	0.40716	-0.145000	0.13849	GCG		0.458	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		61	276	0	0	0	1	0	61	276				
CNKSR1	10256	broad.mit.edu	37	1	26510587	26510587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26510587C>T	ENST00000374253.5	+	10	941	c.902C>T	c.(901-903)cCg>cTg	p.P301L	CNKSR1_ENST00000531191.1_Missense_Mutation_p.P36L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P294L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	301	Pro-rich.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGACTCCCCGCACCAGAGG	0.617																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(106-108)cCg>cTg		connector enhancer of kinase suppressor of Ras 1							79.0	81.0	80.0					1																	26510587		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510587C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.902C>T	1.37:g.26510587C>T	ENSP00000363371:p.Pro301Leu					CNKSR1_ENST00000374253.5_Missense_Mutation_p.P301L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P294L	p.P36L			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	9	1114	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	301			SAM.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.107C>T		.	.	.	.	.	.	.	.	.	.	c	10.75	1.437135	0.25900	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.14766	2.51;2.54;2.48	4.39	3.47	0.39725	.	1.563930	0.03774	N	0.260213	T	0.12518	0.0304	L	0.29908	0.895	0.19945	N	0.999943	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.34079	-0.9843	10	0.15499	T	0.54	-1.527	10.9468	0.47306	0.0:0.9031:0.0:0.0969	.	301;294	Q969H4;Q53GM7	CNKR1_HUMAN;.	L	294;301;36	ENSP00000354609:P294L;ENSP00000363371:P301L;ENSP00000431817:P36L	ENSP00000354609:P294L	P	+	2	0	CNKSR1	26383174	0.002000	0.14202	0.003000	0.11579	0.001000	0.01503	1.271000	0.33098	1.150000	0.42419	-0.215000	0.12644	CCG		0.617	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		9	430	0	0	0	1	0	9	430				
PKDREJ	10343	broad.mit.edu	37	22	46655931	46655931	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655931T>C	ENST00000253255.5	-	1	3288	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1097					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAATAGAAATTCTCACTAGC	0.473																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3289-3291)Att>Gtt		polycystin (PKD) family receptor for egg jelly							87.0	82.0	84.0					22																	46655931		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655931T>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3289A>G	22.37:g.46655931T>C	ENSP00000253255:p.Ile1097Val						p.I1097V	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3288	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1097					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3289A>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.511945	0.27036	.	.	ENSG00000130943	ENST00000253255	T	0.48522	0.81	5.2	4.16	0.48862	.	0.089619	0.47455	N	0.000232	T	0.37812	0.1017	M	0.65498	2.005	0.09310	N	1	P	0.39181	0.663	B	0.33042	0.157	T	0.28332	-1.0047	10	0.26408	T	0.33	-28.9567	5.6471	0.17596	0.1503:0.0805:0.0:0.7692	.	1097	Q9NTG1	PKDRE_HUMAN	V	1097	ENSP00000253255:I1097V	ENSP00000253255:I1097V	I	-	1	0	PKDREJ	45034595	0.816000	0.29132	0.012000	0.15200	0.102000	0.19082	2.169000	0.42434	0.942000	0.37525	0.374000	0.22700	ATT		0.473	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		28	282	0	0	0	1	0	28	282				
ARHGEF10L	55160	broad.mit.edu	37	1	17945899	17945899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17945899C>A	ENST00000361221.3	+	10	1060	c.901C>A	c.(901-903)Cca>Aca	p.P301T	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	301						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCCCAGCCCCAGAGCTGGG	0.662																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(901-903)Cca>Aca		Rho guanine nucleotide exchange factor (GEF) 10-like							25.0	27.0	27.0					1																	17945899		2201	4300	6501	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17945899C>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.901C>A	1.37:g.17945899C>A	ENSP00000355060:p.Pro301Thr					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T	p.P301T	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	10	1060	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	301					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.901C>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750029	0.69533	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.64803	0.23;0.33;0.07;0.33;-0.12;-0.05;2.14	4.75	4.75	0.60458	Dbl homology (DH) domain (1);	0.067931	0.64402	D	0.000013	T	0.68128	0.2967	L	0.39898	1.24	0.40256	D	0.978126	D;P;D;P;P;D;D;D	0.65815	0.983;0.952;0.995;0.939;0.918;0.982;0.99;0.982	P;P;D;P;P;P;P;P	0.66847	0.806;0.703;0.947;0.494;0.558;0.864;0.878;0.758	T	0.71119	-0.4685	10	0.66056	D	0.02	-23.3795	10.0588	0.42261	0.0:0.9064:0.0:0.0936	.	79;59;301;79;67;262;262;301	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	T	301;262;301;262;59;79;79;79	ENSP00000355060:P301T;ENSP00000399401:P262T;ENSP00000394621:P301T;ENSP00000364564:P262T;ENSP00000364569:P59T;ENSP00000364557:P79T;ENSP00000167825:P79T	ENSP00000167825:P79T	P	+	1	0	ARHGEF10L	17818486	0.993000	0.37304	0.998000	0.56505	0.985000	0.73830	3.486000	0.53215	2.203000	0.70933	0.561000	0.74099	CCA		0.662	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		11	104	1	0	2.80697e-09	1	2.95087e-09	11	104				
DSE	29940	broad.mit.edu	37	6	116757772	116757772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116757772C>A	ENST00000331677.3	+	7	2585	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D	DSE_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000537543.1_Missense_Mutation_p.A733D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	714					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTCATTGCTGATCGTCAC	0.502																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2140-2142)gCt>gAt		dermatan sulfate epimerase							100.0	95.0	97.0					6																	116757772		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757772C>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2141C>A	6.37:g.116757772C>A	ENSP00000332151:p.Ala714Asp					DSE_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D|DSE_ENST00000537543.1_Missense_Mutation_p.A733D	p.A714D			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	2585	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	714					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2141C>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807703	0.50421	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.06	6.06	0.98353	.	0.164825	0.56097	D	0.000029	T	0.67896	0.2942	L	0.51422	1.61	0.49389	D	0.999787	D;D	0.60160	0.987;0.987	P;P	0.60682	0.878;0.731	T	0.60969	-0.7157	10	0.33940	T	0.23	-13.3396	20.6397	0.99537	0.0:1.0:0.0:0.0	.	733;714	B7Z765;Q9UL01	.;DSE_HUMAN	D	714;733;714;714	ENSP00000404049:A714D;ENSP00000441152:A733D;ENSP00000332151:A714D;ENSP00000352567:A714D	ENSP00000332151:A714D	A	+	2	0	DSE	116864465	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	4.336000	0.59304	2.880000	0.98712	0.650000	0.86243	GCT		0.502	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		78	438	1	0	8.50452e-49	1	1.05053e-48	78	438				
ZFHX3	463	broad.mit.edu	37	16	72831208	72831208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72831208C>A	ENST00000268489.5	-	9	6045	c.5373G>T	c.(5371-5373)caG>caT	p.Q1791H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1791	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGCTGCTGCTGTAGTTGCA	0.572																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5371-5373)caG>caT		zinc finger homeobox 3							101.0	102.0	101.0					16																	72831208		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831208C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5373G>T	16.37:g.72831208C>A	ENSP00000268489:p.Gln1791His					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	p.Q1791H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6045	-		Ovarian(137;0.13)	1791			Poly-Gln.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5373G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492633	0.26774	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.86164	-2.08;-1.95	6.17	3.21	0.36854	.	0.000000	0.47455	D	0.000230	D	0.89760	0.6808	L	0.49126	1.545	0.54753	D	0.999988	D	0.71674	0.998	D	0.79784	0.993	D	0.88453	0.3050	10	0.52906	T	0.07	.	9.4691	0.38831	0.0:0.6739:0.0:0.3261	.	1791	Q15911	ZFHX3_HUMAN	H	1791;877	ENSP00000268489:Q1791H;ENSP00000438926:Q877H	ENSP00000268489:Q1791H	Q	-	3	2	ZFHX3	71388709	0.938000	0.31826	1.000000	0.80357	0.985000	0.73830	0.133000	0.15912	0.949000	0.37715	-0.150000	0.13652	CAG		0.572	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		72	431	1	0	4.37588e-27	1	5.05892e-27	72	431				
CAPRIN2	65981	broad.mit.edu	37	12	30878969	30878969	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30878969A>G	ENST00000395805.2	-	9	2383	c.1836T>C	c.(1834-1836)gaT>gaC	p.D612D	CAPRIN2_ENST00000308433.5_Silent_p.D279D|CAPRIN2_ENST00000251071.5_Silent_p.D612D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000298892.5_Silent_p.D612D|CAPRIN2_ENST00000538387.1_5'Flank	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATACTGGATCCTTCGGAA	0.383																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1834-1836)gaT>gaC		caprin family member 2							97.0	91.0	93.0					12																	30878969		2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30878969A>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1836T>C	12.37:g.30878969A>G						CAPRIN2_ENST00000298892.5_Silent_p.D612D|CAPRIN2_ENST00000308433.5_Silent_p.D279D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000395805.2_Silent_p.D612D	p.D612D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			9	2586	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		612						Silent	SNP	ENST00000395805.2	37	c.1836T>C	CCDS55816.1																																																																																				0.383	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		52	205	0	0	0	1	0	52	205				
BTBD11	121551	broad.mit.edu	37	12	108013842	108013842	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108013842C>A	ENST00000280758.5	+	11	3060	c.2532C>A	c.(2530-2532)tgC>tgA	p.C844*	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	844						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCATCCAGTGCTTGTTAAAGG	0.582																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2530-2532)tgC>tgA		BTB (POZ) domain containing 11							71.0	68.0	69.0					12																	108013842		2203	4300	6503	SO:0001587	stop_gained	121551					integral to membrane	DNA binding	g.chr12:108013842C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2532C>A	12.37:g.108013842C>A	ENSP00000280758:p.Cys844*					BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*	p.C844*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			11	3060	+			844					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP	ENST00000280758.5	37	c.2532C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	39	7.460790	0.98299	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	.	.	.	5.04	2.8	0.32819	.	0.135156	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.4877	0.38940	0.0:0.7361:0.0:0.2639	.	.	.	.	X	844;725;844;381	.	ENSP00000280758:C844X	C	+	3	2	BTBD11	106537972	0.777000	0.28628	0.997000	0.53966	0.983000	0.72400	0.234000	0.17930	1.079000	0.41038	0.650000	0.86243	TGC		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		73	202	1	0	2.47556e-37	1	2.97223e-37	73	202				
PTGFR	5737	broad.mit.edu	37	1	79002130	79002130	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79002130C>A	ENST00000370757.3	+	3	1075	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	280					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AAATCATTCTCTGGAAACCTG	0.358																																						ENST00000370757.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(838-840)Ctg>Atg		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						103.0	109.0	107.0					1																	79002130		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002130C>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.838C>A	1.37:g.79002130C>A	ENSP00000359793:p.Leu280Met					PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M|PTGFR_ENST00000370756.3_3'UTR	p.L280M	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1075	+			280					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.838C>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663819	0.14710	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.73152	-0.72;-0.72	5.66	-0.169	0.13339	GPCR, rhodopsin-like superfamily (1);	1.923520	0.02399	N	0.080461	T	0.36220	0.0959	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37508	0.252	T	0.26503	-1.0101	10	0.46703	T	0.11	5.3371	4.3889	0.11330	0.4355:0.356:0.0867:0.1217	.	280	P43088	PF2R_HUMAN	M	280	ENSP00000359794:L280M;ENSP00000359793:L280M	ENSP00000359793:L280M	L	+	1	2	PTGFR	78774718	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	-0.129000	0.10515	0.057000	0.16193	0.655000	0.94253	CTG		0.358	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		36	412	1	0	1.90571e-15	1	2.08261e-15	36	412				
GLIS2	84662	broad.mit.edu	37	16	4383390	4383390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4383390G>A	ENST00000262366.3	+	4	1036	c.215G>A	c.(214-216)cGc>cAc	p.R72H	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.R72H			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	72	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTGGAGGGACGCTTTTCAGCA	0.632																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(214-216)cGc>cAc		GLIS family zinc finger 2							47.0	38.0	41.0					16																	4383390		2196	4298	6494	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4383390G>A	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.215G>A	16.37:g.4383390G>A	ENSP00000262366:p.Arg72His					PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.R72H	p.R72H			Q9BZE0	GLIS2_HUMAN			4	1036	+			72			Interaction with CTNND1 (By similarity).|Transcription activation (By similarity).		B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.215G>A	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864946	0.51482	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.11385	2.78;2.78	5.07	5.07	0.68467	.	0.208155	0.43110	N	0.000606	T	0.15739	0.0379	N	0.12182	0.205	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.15235	-1.0444	10	0.38643	T	0.18	.	14.0367	0.64649	0.0:0.0:1.0:0.0	.	72	Q9BZE0	GLIS2_HUMAN	H	72	ENSP00000262366:R72H;ENSP00000395547:R72H	ENSP00000262366:R72H	R	+	2	0	GLIS2	4323391	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.523000	0.45580	2.371000	0.80710	0.555000	0.69702	CGC		0.632	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		13	190	0	0	0	1	0	13	190				
CHST3	9469	broad.mit.edu	37	10	73767332	73767332	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73767332C>T	ENST00000373115.4	+	3	980	c.543C>T	c.(541-543)gcC>gcT	p.A181A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	181					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCGCCAACGCCGCGGGCTCGG	0.652																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(541-543)gcC>gcT		carbohydrate (chondroitin 6) sulfotransferase 3							20.0	21.0	21.0					10																	73767332		2200	4298	6498	SO:0001819	synonymous_variant	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767332C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.543C>T	10.37:g.73767332C>T							p.A181A	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	980	+			181					O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	c.543C>T	CCDS7312.1																																																																																				0.652	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		12	133	0	0	0	1	0	12	133				
PASK	23178	broad.mit.edu	37	2	242062165	242062165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242062165G>A	ENST00000405260.1	-	12	3752	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	PASK_ENST00000234040.4_Silent_p.D1018D|PASK_ENST00000403638.3_Silent_p.D1018D|PASK_ENST00000539818.1_Silent_p.D802D|PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000358649.4_Silent_p.D1018D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1018	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TTTTTTCCTTGTCCACAGCAG	0.602																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3052-3054)gaC>gaT		PAS domain containing serine/threonine kinase							87.0	94.0	91.0					2																	242062165		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242062165G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3054C>T	2.37:g.242062165G>A						PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000358649.4_Silent_p.D1018D|PASK_ENST00000405260.1_Silent_p.D1018D|PASK_ENST00000234040.4_Silent_p.D1018D|PASK_ENST00000539818.1_Silent_p.D802D	p.D1018D	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	12	3145	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1018			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.3054C>T	CCDS2545.1																																																																																				0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		50	596	0	0	0	1	0	50	596				
LRRC42	115353	broad.mit.edu	37	1	54433606	54433606	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54433606C>A	ENST00000371370.3	+	9	1802	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	LRRC42_ENST00000319223.4_Silent_p.S427S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	427				KYVCLAVEDWDLLNSY -> IFLLLWCGRGMLWKYVIISNV YFQYIVIFSNKHFCCP (in Ref. 1). {ECO:0000305}.						breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTAAATTCCTATTGATTAG	0.388																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(1279-1281)tcC>tcA		leucine rich repeat containing 42							78.0	83.0	81.0					1																	54433606		2203	4300	6503	SO:0001819	synonymous_variant	115353							g.chr1:54433606C>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.1281C>A	1.37:g.54433606C>A						LRRC42_ENST00000319223.4_Silent_p.S427S	p.S427S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			9	1802	+			427	KYVCLAVEDWDLLNSY -> IFLLLWCGRGMLWKYVIISNV YFQYIVIFSNKHFCCP (in Ref. 1).				D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	37	c.1281C>A	CCDS585.1																																																																																				0.388	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		33	290	1	0	5.09552e-08	1	5.30909e-08	33	290				
MXD4	10608	broad.mit.edu	37	4	2263663	2263663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2263663G>A	ENST00000337190.2	-	1	358	c.45C>T	c.(43-45)taC>taT	p.Y15Y	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	15	Interaction with SIN3A and SIN3B. {ECO:0000250}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCGCTCCAGGTACTCGGCCG	0.801																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(43-45)taC>taT		MAX dimerization protein 4							5.0	6.0	6.0					4																	2263663		1657	3206	4863	SO:0001819	synonymous_variant	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2263663G>A		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.45C>T	4.37:g.2263663G>A						MXD4_ENST00000515378.1_5'UTR	p.Y15Y	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN			1	358	-			15			Interaction with SIN3A and SIN3B (By similarity).		A2A335|Q5TZX4	Silent	SNP	ENST00000337190.2	37	c.45C>T	CCDS3361.1																																																																																				0.801	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		11	42	0	0	0	1	0	11	42				
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	rs149912828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1969-1971)cCg>cTg		collagen, type V, alpha 1			LEU/PRO	0,4404		0,0,2202	109.0	100.0	103.0		1970	4.5	0.6	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	657/1839	137653805	1,13003	2202	4300	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137653805C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1970C>T	9.37:g.137653805C>T	ENSP00000360882:p.Pro657Leu						p.P657L	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	19	2384	+		Myeloproliferative disorder(178;0.0341)	657			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1970C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204150	0.22205	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.53	4.53	0.55603	.	0.152829	0.44688	U	0.000431	D	0.97835	0.9289	M	0.82823	2.61	0.51233	D	0.99991	D	0.89917	1.0	D	0.74023	0.982	D	0.98448	1.0590	10	0.87932	D	0	.	12.7642	0.57383	0.0:1.0:0.0:0.0	.	657	P20908	CO5A1_HUMAN	L	657	ENSP00000360882:P657L	ENSP00000360882:P657L	P	+	2	0	COL5A1	136793626	0.972000	0.33761	0.573000	0.28510	0.014000	0.08584	5.210000	0.65214	2.067000	0.61834	0.556000	0.70494	CCG		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		25	341	0	0	0	1	0	25	341				
PCDHGC5	56097	broad.mit.edu	37	5	140870861	140870861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870861C>A	ENST00000252087.1	+	1	2054	c.2054C>A	c.(2053-2055)cCt>cAt	p.P685H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	685					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACACCCTCCTGAGCGTTCA	0.537																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2053-2055)cCt>cAt									205.0	187.0	193.0					5																	140870861		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870861C>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2054C>A	5.37:g.140870861C>A	ENSP00000252087:p.Pro685His					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.P685H	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2054	+			685					Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.2054C>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840067	0.16891	.	.	ENSG00000240764	ENST00000252087	T	0.49720	0.77	4.7	3.76	0.43208	.	0.174914	0.28724	N	0.014353	T	0.45337	0.1337	L	0.46157	1.445	0.09310	N	1	P;P	0.51240	0.943;0.844	P;B	0.46940	0.532;0.195	T	0.43032	-0.9416	10	0.66056	D	0.02	.	10.9736	0.47452	0.1482:0.7223:0.1295:0.0	.	685;685	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	H	685	ENSP00000252087:P685H	ENSP00000252087:P685H	P	+	2	0	PCDHGC5	140851045	0.000000	0.05858	0.993000	0.49108	0.395000	0.30598	0.178000	0.16820	2.428000	0.82296	0.561000	0.74099	CCT		0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		163	827	1	0	2.03036e-78	1	2.59325e-78	163	827				
TYR	7299	broad.mit.edu	37	11	88924508	88924508	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924508T>G	ENST00000263321.5	+	2	1460	c.958T>G	c.(958-960)Ttt>Gtt	p.F320V	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	320					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGATGTAGAATTTTGCCTGAG	0.438																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(958-960)Ttt>Gtt		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						118.0	116.0	116.0					11																	88924508		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924508T>G	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.958T>G	11.37:g.88924508T>G	ENSP00000263321:p.Phe320Val					TYR_ENST00000526139.1_3'UTR	p.F320V	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			2	1460	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	320					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.958T>G	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147879	0.37923	.	.	ENSG00000077498	ENST00000263321	D	0.97232	-4.3	5.37	3.02	0.34903	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.549024	0.22235	N	0.062768	D	0.95825	0.8641	M	0.88181	2.935	0.33538	D	0.594502	B	0.32653	0.379	B	0.31946	0.138	D	0.93974	0.7252	9	.	.	.	.	4.4972	0.11842	0.1436:0.1499:0.0:0.7065	.	320	P14679	TYRO_HUMAN	V	320	ENSP00000263321:F320V	.	F	+	1	0	TYR	88564156	1.000000	0.71417	0.826000	0.32828	0.966000	0.64601	3.802000	0.55553	0.348000	0.23949	0.533000	0.62120	TTT		0.438	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		39	789	0	0	0	1	0	39	789				
SRSF6	6431	broad.mit.edu	37	20	42088878	42088878	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42088878C>A	ENST00000244020.3	+	4	693	c.587C>A	c.(586-588)tCc>tAc	p.S196Y		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	196	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GGAAGCAGATCCAGGTAACTT	0.403																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(586-588)tCc>tAc		serine/arginine-rich splicing factor 6							49.0	48.0	48.0					20																	42088878		2200	4300	6500	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088878C>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.587C>A	20.37:g.42088878C>A	ENSP00000244020:p.Ser196Tyr						p.S196Y	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			4	693	+			196			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.587C>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970812	0.53614	.	.	ENSG00000124193	ENST00000244020	T	0.31769	1.48	5.98	5.98	0.97165	.	0.111229	0.64402	D	0.000005	T	0.60919	0.2306	M	0.80616	2.505	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.75484	0.986;0.962	T	0.62353	-0.6872	10	0.72032	D	0.01	.	19.2235	0.93808	0.0:1.0:0.0:0.0	.	196;196	Q13247;A8K588	SRSF6_HUMAN;.	Y	196	ENSP00000244020:S196Y	ENSP00000244020:S196Y	S	+	2	0	SRSF6	41522292	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.731000	0.84895	2.838000	0.97847	0.591000	0.81541	TCC		0.403	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		8	234	1	0	0.00448238	1	0.00451339	8	234				
AGFG1	3267	broad.mit.edu	37	2	228401620	228401620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228401620C>T	ENST00000310078.8	+	10	1549	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M|AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M|AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	430					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTTAAAGCTACGCCTTCCACA	0.333																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1288-1290)aCg>aTg		ArfGAP with FG repeats 1							62.0	64.0	63.0					2																	228401620		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228401620C>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1289C>T	2.37:g.228401620C>T	ENSP00000312059:p.Thr430Met					AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M|AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M	p.T430M	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			10	1549	+			430					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1289C>T	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595158	0.46318	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.24908	1.88;1.9;1.84;1.83;1.9	5.97	5.97	0.96955	.	0.264991	0.43416	D	0.000579	T	0.24084	0.0583	N	0.22421	0.69	0.38870	D	0.956668	P;P;D;D	0.54772	0.945;0.954;0.968;0.968	B;P;B;B	0.45449	0.36;0.481;0.197;0.132	T	0.01352	-1.1377	10	0.33940	T	0.23	-0.4976	18.6134	0.91294	0.0:1.0:0.0:0.0	.	390;430;454;430	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	M	454;439;430;409;390;430	ENSP00000387282:T454M;ENSP00000312059:T430M;ENSP00000387154:T409M;ENSP00000362775:T390M;ENSP00000387218:T430M	ENSP00000312059:T430M	T	+	2	0	AGFG1	228109864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.826000	0.62715	2.838000	0.97847	0.591000	0.81541	ACG		0.333	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		60	331	0	0	0	1	0	60	331				
MCAM	4162	broad.mit.edu	37	11	119181118	119181118	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119181118G>A	ENST00000264036.4	-	15	1866	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	618					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATCTCTTCTGGGAGCTTATCT	0.602																																						ENST00000264036.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1852-1854)Cca>Tca		melanoma cell adhesion molecule							102.0	100.0	101.0					11																	119181118		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119181118G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1852C>T	11.37:g.119181118G>A	ENSP00000264036:p.Pro618Ser					MCAM_ENST00000392814.1_3'UTR	p.P618S	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	1866	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	618					O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1852C>T	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217456	0.22373	.	.	ENSG00000076706	ENST00000264036	T	0.54675	0.56	5.28	5.28	0.74379	.	.	.	.	.	T	0.33411	0.0862	N	0.19112	0.55	0.80722	D	1	B	0.27450	0.179	B	0.25884	0.064	T	0.17258	-1.0375	9	0.02654	T	1	-8.3175	14.1784	0.65557	0.0:0.1499:0.8501:0.0	.	618	P43121	MUC18_HUMAN	S	618	ENSP00000264036:P618S	ENSP00000264036:P618S	P	-	1	0	MCAM	118686328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.896000	0.28377	2.461000	0.83175	0.563000	0.77884	CCA		0.602	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			109	600	0	0	0	1	0	109	600				
GTF3C1	2975	broad.mit.edu	37	16	27495625	27495625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27495625G>A	ENST00000356183.4	-	25	3923	c.3908C>T	c.(3907-3909)gCc>gTc	p.A1303V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1303V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1303					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCAAACGTGGCATGCAAAAT	0.468																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3907-3909)gCc>gTc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							113.0	105.0	107.0					16																	27495625		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27495625G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3908C>T	16.37:g.27495625G>A	ENSP00000348510:p.Ala1303Val					GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1303V	p.A1303V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			25	3923	-			1303					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3908C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586325	0.46110	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24723	1.84	5.91	3.88	0.44766	.	0.545009	0.19901	N	0.103513	T	0.31544	0.0800	L	0.60455	1.87	0.09310	N	1	P;P	0.51449	0.945;0.868	P;P	0.47528	0.549;0.526	T	0.08953	-1.0697	10	0.39692	T	0.17	-3.1335	11.8013	0.52128	0.0:0.2493:0.6215:0.1292	.	1303;1303	Q12789;Q12789-3	TF3C1_HUMAN;.	V	1303;1299	ENSP00000348510:A1303V	ENSP00000348510:A1303V	A	-	2	0	GTF3C1	27403126	0.735000	0.28153	0.001000	0.08648	0.577000	0.36160	4.116000	0.57871	0.777000	0.33496	-0.176000	0.13171	GCC		0.468	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		10	285	0	0	0	1	0	10	285				
PMF1	11243	broad.mit.edu	37	1	156203496	156203496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156203496C>T	ENST00000368273.4	+	3	361	c.351C>T	c.(349-351)ggC>ggT	p.G117G	PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G|PMF1_ENST00000368279.3_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G|PMF1_ENST00000368277.3_Silent_p.G115G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TGGAAGAAGGCAAAGTCCGCA	0.458																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(343-345)ggC>ggT		polyamine-modulated factor 1							105.0	113.0	110.0					1																	156203496		2203	4300	6503	SO:0001819	synonymous_variant	11243							g.chr1:156203496C>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.351C>T	1.37:g.156203496C>T						PMF1_ENST00000368279.3_Silent_p.G115G|PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G|PMF1_ENST00000368273.4_Silent_p.G117G	p.G115G	NM_007221.3	NP_009152.2					3	354	+	Hepatocellular(266;0.158)								Silent	SNP	ENST00000368273.4	37	c.345C>T	CCDS55648.1																																																																																				0.458	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221		182	494	0	0	0	1	0	182	494				
ZNF623	9831	broad.mit.edu	37	8	144732313	144732313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144732313G>T	ENST00000501748.2	+	1	360	c.271G>T	c.(271-273)Gga>Tga	p.G91*	ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATCCAGACAGGAGAGACAGC	0.532																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(271-273)Gga>Tga		zinc finger protein 623							85.0	86.0	86.0					8																	144732313		2203	4300	6503	SO:0001587	stop_gained	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732313G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.271G>T	8.37:g.144732313G>T	ENSP00000445979:p.Gly91*					ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*	p.G91*	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	360	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		91					A4FU80|B4DGP3|E7ENV5	Nonsense_Mutation	SNP	ENST00000501748.2	37	c.271G>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	37	6.026268	0.97216	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	.	.	.	4.35	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5066	12.372	0.55260	0.0:0.1714:0.8286:0.0	.	.	.	.	X	51;51;51;91;91	.	ENSP00000330358:G51X	G	+	1	0	ZNF623	144803456	0.940000	0.31905	0.968000	0.41197	0.548000	0.35241	1.416000	0.34759	1.185000	0.42971	-0.150000	0.13652	GGA		0.532	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		101	462	1	0	1.44786e-46	1	1.77932e-46	101	462				
CLK3	1198	broad.mit.edu	37	15	74911640	74911640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911640C>T	ENST00000395066.3	+	2	1008	c.547C>T	c.(547-549)Cga>Tga	p.R183*	CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	183	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGGAGACTGCGATACCCGTC	0.577																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(547-549)Cga>Tga		CDC-like kinase 3							161.0	139.0	146.0					15																	74911640		2197	4296	6493	SO:0001587	stop_gained	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74911640C>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.547C>T	15.37:g.74911640C>T	ENSP00000378505:p.Arg183*					CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*	p.R183*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			2	1008	+			183			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Nonsense_Mutation	SNP	ENST00000395066.3	37	c.547C>T	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929923	0.92389	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	.	.	.	4.74	4.74	0.60224	.	0.514121	0.17940	N	0.156900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	15.699	0.77528	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;183;35;35	.	ENSP00000344112:R35X	R	+	1	2	CLK3	72698693	0.998000	0.40836	0.979000	0.43373	0.949000	0.60115	2.819000	0.48049	2.464000	0.83262	0.655000	0.94253	CGA		0.577	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			112	585	0	0	0	1	0	112	585				
RIMBP2	23504	broad.mit.edu	37	12	130919411	130919411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919411G>A	ENST00000261655.4	-	11	2233	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	RIMBP2_ENST00000535703.1_Silent_p.S598S|RIMBP2_ENST00000536002.1_Silent_p.S598S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	690					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTAGGAAGACGCTCCTTTTCT	0.597																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2068-2070)agC>agT		RIMS binding protein 2							47.0	52.0	51.0					12																	130919411		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919411G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2070C>T	12.37:g.130919411G>A						RIMBP2_ENST00000535703.1_Silent_p.S598S|RIMBP2_ENST00000536002.1_Silent_p.S598S	p.S690S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2233	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	690					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2070C>T	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		85	356	0	0	0	1	0	85	356				
SIX4	51804	broad.mit.edu	37	14	61186709	61186709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186709C>T	ENST00000216513.4	-	2	1377	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	440					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAGACAGGGACACTGGGGCTG	0.512																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1318-1320)Gtc>Atc		SIX homeobox 4							162.0	156.0	158.0					14																	61186709		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61186709C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1318G>A	14.37:g.61186709C>T	ENSP00000216513:p.Val440Ile						p.V440I	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	1377	-			440					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1318G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594048	0.28445	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90563	-2.69;0.92	5.72	5.72	0.89469	.	0.748974	0.13273	N	0.400382	T	0.78966	0.4367	N	0.08118	0	0.22591	N	0.998956	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63220	-0.6686	10	0.17369	T	0.5	.	8.5689	0.33556	0.1536:0.7653:0.0:0.0811	.	432;440	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	440;113;432	ENSP00000216513:V440I;ENSP00000451537:V113I	ENSP00000216513:V440I	V	-	1	0	SIX4	60256462	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	2.017000	0.40981	2.717000	0.92951	0.655000	0.94253	GTC		0.512	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			103	468	0	0	0	1	0	103	468				
STXBP5	134957	broad.mit.edu	37	6	147680400	147680400	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147680400T>C	ENST00000321680.6	+	23	2486	c.2486T>C	c.(2485-2487)cTg>cCg	p.L829P	STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P|STXBP5_ENST00000367481.3_Missense_Mutation_p.L793P|STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	829					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTCATTGCACTGAACCTTCCC	0.483																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2377-2379)cTg>cCg		syntaxin binding protein 5 (tomosyn)							116.0	101.0	106.0					6																	147680400		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147680400T>C	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2486T>C	6.37:g.147680400T>C	ENSP00000321826:p.Leu829Pro					STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P|STXBP5_ENST00000321680.6_Missense_Mutation_p.L829P|STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P	p.L793P	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	21	2486	+		Ovarian(120;0.0164)	829					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2378T>C	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	t	24.0	4.478563	0.84747	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.58061	0.2096	M	0.80616	2.505	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.66497	0.944;0.943;0.937	T	0.66160	-0.5993	10	0.87932	D	0	.	15.4235	0.75031	0.0:0.0:0.0:1.0	.	793;829;484	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	P	168;793;829;776;484;153	ENSP00000356451:L793P;ENSP00000321826:L829P;ENSP00000356450:L776P;ENSP00000179882:L484P;ENSP00000376112:L153P	ENSP00000179882:L484P	L	+	2	0	STXBP5	147722093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.047000	0.60756	0.529000	0.55759	CTG		0.483	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			48	344	0	0	0	1	0	48	344				
WIPF1	7456	broad.mit.edu	37	2	175439979	175439979	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175439979A>G	ENST00000392547.2	-	4	410	c.311T>C	c.(310-312)tTc>tCc	p.F104S	WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	104					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCCAGCCTGGAACAATCCTCC	0.592																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(310-312)tTc>tCc		WAS/WASL interacting protein family, member 1							129.0	127.0	128.0					2																	175439979		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175439979A>G	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.311T>C	2.37:g.175439979A>G	ENSP00000376330:p.Phe104Ser					WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S|AC010894.5_ENST00000454203.1_RNA	p.F104S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			4	410	-			104					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.311T>C	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977920	0.92982	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117	D;D;D;D;D;D;T;T	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;2.58;2.58	5.55	5.55	0.83447	.	0.054881	0.64402	D	0.000001	D	0.93726	0.7995	M	0.84326	2.69	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.997;0.996;0.997;0.994	D	0.94433	0.7651	10	0.66056	D	0.02	.	15.7042	0.77565	1.0:0.0:0.0:0.0	.	104;104;104;104	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	104;104;104;104;104;104;104;101;104	ENSP00000376330:F104S;ENSP00000272746:F104S;ENSP00000352802:F104S;ENSP00000376329:F104S;ENSP00000386431:F104S;ENSP00000387150:F104S;ENSP00000391785:F101S;ENSP00000386757:F104S	ENSP00000272746:F104S	F	-	2	0	WIPF1	175148225	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.123000	0.89586	2.113000	0.64589	0.379000	0.24179	TTC		0.592	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		298	743	0	0	0	1	0	298	743				
PKP1	5317	broad.mit.edu	37	1	201289433	201289433	+	Missense_Mutation	SNP	G	G	A	rs376870836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201289433G>A	ENST00000352845.3	+	8	1334	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	PKP1_ENST00000263946.3_Missense_Mutation_p.R445H|PKP1_ENST00000367324.3_Missense_Mutation_p.R424H			Q13835	PKP1_HUMAN	plakophilin 1	445					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGACCATGCGTAACTACTCA	0.607																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1333-1335)cGt>cAt		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74.0	62.0	66.0		1334,1271	4.8	1.0	1		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKP1	NM_000299.3,NM_001005337.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	445/748,424/727	201289433	1,13005	2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201289433G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1334G>A	1.37:g.201289433G>A	ENSP00000295597:p.Arg445His					PKP1_ENST00000367324.3_Missense_Mutation_p.R424H|PKP1_ENST00000352845.3_Missense_Mutation_p.R445H	p.R445H	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			8	1585	+			445					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.1334G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202281	0.94997	0.0	1.16E-4	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.81247	-1.47;-1.47;-1.47	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92805	0.6259	10	0.87932	D	0	-19.6126	18.2321	0.89937	0.0:0.0:1.0:0.0	.	32;424;445	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	H	424;445;445	ENSP00000356293:R424H;ENSP00000263946:R445H;ENSP00000295597:R445H	ENSP00000263946:R445H	R	+	2	0	PKP1	199556056	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	8.915000	0.92740	2.375000	0.81037	0.591000	0.81541	CGT		0.607	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		20	202	0	0	0	1	0	20	202				
ZNF708	7562	broad.mit.edu	37	19	21492088	21492088	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21492088G>T	ENST00000356929.3	-	3	383	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCATATTCCAGGGCTCTTTTC	0.418																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(184-186)ccC>ccA		zinc finger protein 708							119.0	117.0	118.0					19																	21492088		2203	4300	6503	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21492088G>T	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.186C>A	19.37:g.21492088G>T							p.P62P	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			3	383	-			62			KRAB.		Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.186C>A	CCDS32980.1																																																																																				0.418	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		97	631	1	0	6.01805e-51	1	7.46351e-51	97	631				
MARS2	92935	broad.mit.edu	37	2	198570573	198570573	+	Silent	SNP	G	G	A	rs138238210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198570573G>A	ENST00000282276.6	+	1	487	c.444G>A	c.(442-444)caG>caA	p.Q148Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	148					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGCTGTGCAGCACTTCTGGG	0.607																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(442-444)caG>caA		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						39.0	44.0	42.0					2																	198570573		2203	4300	6503	SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570573G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.444G>A	2.37:g.198570573G>A						AC011997.1_ENST00000409845.1_Intron	p.Q148Q	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	487	+			148					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.444G>A	CCDS33358.1																																																																																				0.607	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		141	354	0	0	0	1	0	141	354				
LRRC8D	55144	broad.mit.edu	37	1	90398904	90398904	+	Missense_Mutation	SNP	C	C	T	rs139352797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90398904C>T	ENST00000337338.5	+	3	684	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	93					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCAAGATGGGCGGACAACAAA	0.493																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(277-279)Cgg>Tgg		leucine rich repeat containing 8 family, member D		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	105.0	91.0	96.0		277,277	-1.3	0.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC8D	NM_001134479.1,NM_018103.4	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	93/859,93/859	90398904	1,13005	2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90398904C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.277C>T	1.37:g.90398904C>T	ENSP00000338887:p.Arg93Trp					LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	p.R93W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	684	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	93					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.277C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	5.908	0.351627	0.11182	0.0	1.16E-4	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000532201;ENST00000414841;ENST00000527156;ENST00000441269	T;T;T	0.44482	1.49;1.49;0.92	6.07	-1.26	0.09376	.	0.859492	0.09801	N	0.754096	T	0.04182	0.0116	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	9	.	.	.	.	0.5437	0.00650	0.2241:0.3021:0.2206:0.2531	.	93	Q7L1W4	LRC8D_HUMAN	W	93	ENSP00000338887:R93W;ENSP00000378093:R93W;ENSP00000405784:R93W	.	R	+	1	2	LRRC8D	90171492	0.000000	0.05858	0.037000	0.18230	0.050000	0.14768	0.014000	0.13333	0.138000	0.18790	-0.136000	0.14681	CGG		0.493	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		34	166	0	0	0	1	0	34	166				
FAM178A	55719	broad.mit.edu	37	10	102684141	102684141	+	Silent	SNP	C	C	T	rs141433125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102684141C>T	ENST00000238961.4	+	5	1925	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	FAM178A_ENST00000370269.3_Silent_p.T461T|FAM178A_ENST00000370271.3_Silent_p.T461T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	461						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAAATAAAACCGCTAGCTCCA	0.413																																						ENST00000238961.3																			0											c.(1381-1383)acC>acT		family with sequence similarity 178, member A							80.0	92.0	88.0					10																	102684141		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:102684141C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1383C>T	10.37:g.102684141C>T						FAM178A_ENST00000370269.3_Silent_p.T461T|FAM178A_ENST00000370271.3_Silent_p.T461T	p.T461T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1531	+			461					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.1383C>T	CCDS7500.1																																																																																				0.413	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			136	605	0	0	0	1	0	136	605				
PPAT	5471	broad.mit.edu	37	4	57269561	57269561	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57269561G>A	ENST00000264220.2	-	4	546	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	137	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'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)	ATACCATGACGCAGAAGCTAT	0.448																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(409-411)Cgt>Tgt		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						53.0	52.0	53.0					4																	57269561		2203	4300	6503	SO:0001583	missense	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.chr4:57269561G>A		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.409C>T	4.37:g.57269561G>A	ENSP00000264220:p.Arg137Cys					PPAT_ENST00000507648.1_5'UTR	p.R137C	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			4	546	-	Glioma(25;0.08)|all_neural(26;0.101)		137			Glutamine amidotransferase type-2.			Missense_Mutation	SNP	ENST00000264220.2	37	c.409C>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659912	0.67586	.	.	ENSG00000128059	ENST00000264220	T	0.77098	-1.07	5.51	5.51	0.81932	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	P	0.59595	0.86	D	0.88575	0.3132	10	0.62326	D	0.03	-13.6926	19.4001	0.94625	0.0:0.0:1.0:0.0	.	137	Q06203	PUR1_HUMAN	C	137	ENSP00000264220:R137C	ENSP00000264220:R137C	R	-	1	0	PPAT	56964318	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.360000	0.59455	2.593000	0.87608	0.655000	0.94253	CGT		0.448	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		24	235	0	0	0	1	0	24	235				
TNRC6C	57690	broad.mit.edu	37	17	76083142	76083142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76083142C>A	ENST00000588061.1	+	15	4497	c.3770C>A	c.(3769-3771)tCt>tAt	p.S1257Y	TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1257					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGCAGCAGTCTTCACCCAAC	0.582																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(3760-3762)tCt>tAt		trinucleotide repeat containing 6C							120.0	131.0	127.0					17																	76083142		2140	4248	6388	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76083142C>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3770C>A	17.37:g.76083142C>A	ENSP00000468647:p.Ser1257Tyr					TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y	p.S1254Y	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		13	4330	+			1257					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.3761C>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774969	0.90108	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16897	2.32;2.31;2.31;2.32	5.48	5.48	0.80851	.	0.177279	0.51477	D	0.000081	T	0.36413	0.0966	M	0.61703	1.905	0.80722	D	1	P;P	0.51057	0.892;0.941	P;P	0.56434	0.714;0.798	T	0.01776	-1.1276	10	0.45353	T	0.12	-3.2971	19.3435	0.94355	0.0:1.0:0.0:0.0	.	1254;1257	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	Y	1257;1254;1254;1257;1257;1254	ENSP00000336783:S1254Y;ENSP00000301624:S1257Y;ENSP00000440310:S1257Y;ENSP00000442421:S1254Y	ENSP00000301624:S1257Y	S	+	2	0	TNRC6C	73594737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.604000	0.67626	2.563000	0.86464	0.655000	0.94253	TCT		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		57	545	1	0	2.73361e-28	1	3.17826e-28	57	545				
KIF15	56992	broad.mit.edu	37	3	44872399	44872399	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44872399C>A	ENST00000326047.4	+	26	3209	c.3060C>A	c.(3058-3060)aaC>aaA	p.N1020K	KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1020					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GCAAATACAACTCTGCTTTGG	0.383																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3058-3060)aaC>aaA		kinesin family member 15							109.0	106.0	107.0					3																	44872399		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44872399C>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3060C>A	3.37:g.44872399C>A	ENSP00000324020:p.Asn1020Lys					KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	p.N1020K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	26	3209	+			1020					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3060C>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714539	0.48622	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.41065	1.01;1.01	6.06	2.31	0.28768	.	0.222711	0.30791	N	0.008861	T	0.34366	0.0895	M	0.62723	1.935	0.29249	N	0.872134	P	0.42078	0.77	B	0.38803	0.282	T	0.20974	-1.0259	10	0.26408	T	0.33	.	7.2452	0.26117	0.0:0.4867:0.0:0.5133	.	1020	Q9NS87	KIF15_HUMAN	K	1020;1019;655	ENSP00000324020:N1020K;ENSP00000389982:N655K	ENSP00000324020:N1020K	N	+	3	2	KIF15	44847403	0.018000	0.18449	0.989000	0.46669	0.997000	0.91878	0.340000	0.19892	0.442000	0.26555	0.655000	0.94253	AAC		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			95	381	1	0	1.37074e-43	1	1.67417e-43	95	381				
SRP72	6731	broad.mit.edu	37	4	57366836	57366836	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57366836G>T	ENST00000342756.5	+	18	2534	c.1813G>T	c.(1813-1815)Gca>Tca	p.A605S	SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	605					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GACCCAGGGAGCAACTGCAGG	0.453																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(1813-1815)Gca>Tca		signal recognition particle 72kDa							44.0	44.0	44.0					4																	57366836		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57366836G>T	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1813G>T	4.37:g.57366836G>T	ENSP00000342181:p.Ala605Ser					SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	p.A605S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			18	2534	+	Glioma(25;0.08)|all_neural(26;0.101)		605					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.1813G>T	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234601	0.22626	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.78246	-1.16;-1.14	5.94	4.99	0.66335	.	0.231906	0.43919	D	0.000502	T	0.60612	0.2282	N	0.19112	0.55	0.43091	D	0.994761	B;B	0.21821	0.061;0.008	B;B	0.16289	0.015;0.003	T	0.55717	-0.8097	10	0.23302	T	0.38	.	9.6069	0.39639	0.1236:0.0:0.8764:0.0	.	544;605	G5E9Z8;O76094	.;SRP72_HUMAN	S	605;550;544	ENSP00000342181:A605S;ENSP00000424576:A544S	ENSP00000342181:A605S	A	+	1	0	SRP72	57061593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.681000	0.46926	2.807000	0.96579	0.591000	0.81541	GCA		0.453	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			43	176	1	0	2.26627e-22	1	2.56399e-22	43	176				
LARP4B	23185	broad.mit.edu	37	10	871234	871234	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:871234G>A	ENST00000316157.3	-	12	1295	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	419					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ATCGCATGCCGCAGATGAGAT	0.378																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1255-1257)Cgg>Tgg		La ribonucleoprotein domain family, member 4B							88.0	94.0	92.0					10																	871234		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:871234G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1255C>T	10.37:g.871234G>A	ENSP00000326128:p.Arg419Trp						p.R419W	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			12	1295	-			419					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1255C>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901055	0.72754	.	.	ENSG00000107929	ENST00000316157	T	0.38240	1.15	5.57	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56601	-0.7952	10	0.87932	D	0	-3.5475	14.4915	0.67654	0.0704:0.0:0.9296:0.0	.	419	Q92615	LAR4B_HUMAN	W	419	ENSP00000326128:R419W	ENSP00000326128:R419W	R	-	1	2	LARP4B	861234	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.115000	0.57865	1.379000	0.46325	0.655000	0.94253	CGG		0.378	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		16	488	0	0	0	1	0	16	488				
AFF3	3899	broad.mit.edu	37	2	100623808	100623808	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100623808T>C	ENST00000409236.2	-	4	401	c.289A>G	c.(289-291)Aaa>Gaa	p.K97E	AFF3_ENST00000317233.4_Missense_Mutation_p.K97E|AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000356421.2_Missense_Mutation_p.K122E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	97					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACCCCAGGTTTGGGAACTCCA	0.438																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(289-291)Aaa>Gaa		AF4/FMR2 family, member 3							92.0	99.0	97.0					2																	100623808		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623808T>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.289A>G	2.37:g.100623808T>C	ENSP00000387207:p.Lys97Glu					AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000409236.1_Missense_Mutation_p.K97E|AFF3_ENST00000356421.2_Missense_Mutation_p.K122E	p.K97E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			5	524	-			97					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.289A>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264756	0.80358	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.21	5.21	0.72293	.	0.065008	0.64402	D	0.000017	T	0.71651	0.3365	L	0.28115	0.83	0.31583	N	0.654829	D;D;D;D;D	0.76494	0.998;0.998;0.999;0.994;0.988	D;D;D;D;P	0.81914	0.965;0.941;0.995;0.926;0.852	T	0.74441	-0.3664	10	0.40728	T	0.16	.	15.3723	0.74573	0.0:0.0:0.0:1.0	.	251;251;97;97;122	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	E	97;122;122;97;97;251;122;97;97;97;97;97	ENSP00000317421:K97E;ENSP00000348793:K122E;ENSP00000386834:K122E;ENSP00000387207:K97E;ENSP00000406484:K97E;ENSP00000396582:K97E;ENSP00000399795:K97E;ENSP00000411383:K97E;ENSP00000395068:K97E	ENSP00000317421:K97E	K	-	1	0	AFF3	99990240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.043000	0.49823	2.085000	0.62840	0.477000	0.44152	AAA		0.438	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		124	365	0	0	0	1	0	124	365				
RFX4	5992	broad.mit.edu	37	12	107048102	107048102	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107048102A>G	ENST00000392842.1	+	4	702	c.288A>G	c.(286-288)caA>caG	p.Q96Q	RFX4_ENST00000357881.4_Silent_p.Q105Q|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	96					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATGATACCCAACCTGTCAATG	0.488																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(286-288)caA>caG		regulatory factor X, 4 (influences HLA class II expression)							100.0	87.0	92.0					12																	107048102		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107048102A>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.288A>G	12.37:g.107048102A>G						RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.Q105Q	p.Q96Q	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			4	702	+			96					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.288A>G	CCDS9106.1																																																																																				0.488	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		43	266	0	0	0	1	0	43	266				
FLRT3	23767	broad.mit.edu	37	20	14307515	14307515	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307515T>G	ENST00000378053.3	-	2	894	c.638A>C	c.(637-639)aAt>aCt	p.N213T	FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	213					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAAACCATGATTGTTCAACAG	0.443																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(637-639)aAt>aCt		fibronectin leucine rich transmembrane protein 3							66.0	65.0	66.0					20																	14307515		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307515T>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.638A>C	20.37:g.14307515T>G	ENSP00000367292:p.Asn213Thr					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T|MACROD2_ENST00000217246.4_Intron	p.N213T	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	894	-		Colorectal(1;0.0464)	213					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.638A>C	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175522	0.57692	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.02301	4.35;4.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.10874	0.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62506	-0.6840	10	0.44086	T	0.13	-15.4867	16.8061	0.85666	0.0:0.0:0.0:1.0	.	213	Q9NZU0	FLRT3_HUMAN	T	213	ENSP00000367292:N213T;ENSP00000339912:N213T	ENSP00000339912:N213T	N	-	2	0	FLRT3	14255515	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	AAT		0.443	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		60	273	0	0	0	1	0	60	273				
KLHL38	340359	broad.mit.edu	37	8	124665022	124665022	+	Missense_Mutation	SNP	G	G	A	rs369592276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124665022G>A	ENST00000325995.7	-	1	168	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	49	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCACGTTGCGGTGGCAGGGG	0.572																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(145-147)Cgc>Tgc		kelch-like family member 38		G	CYS/ARG	0,4114		0,0,2057	54.0	58.0	57.0		145	4.6	1.0	8		57	1,8425		0,1,4212	no	missense	KLHL38	NM_001081675.2	180	0,1,6269	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	49/582	124665022	1,12539	2057	4213	6270	SO:0001583	missense	340359							g.chr8:124665022G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.145C>T	8.37:g.124665022G>A	ENSP00000321475:p.Arg49Cys					CTD-2552K11.2_ENST00000524355.1_RNA	p.R49C	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	168	-			49			BTB.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.145C>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022586	0.54683	0.0	1.19E-4	ENSG00000175946	ENST00000325995	T	0.75477	-0.94	5.52	4.56	0.56223	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	H	0.98802	4.335	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.94648	0.7836	10	0.87932	D	0	.	15.4823	0.75537	0.0:0.0:0.7771:0.2229	.	49	Q2WGJ6	KLH38_HUMAN	C	49	ENSP00000321475:R49C	ENSP00000321475:R49C	R	-	1	0	KLHL38	124734203	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	1.287000	0.33284	2.596000	0.87737	0.561000	0.74099	CGC		0.572	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			62	327	0	0	0	1	0	62	327				
EFR3A	23167	broad.mit.edu	37	8	132996489	132996489	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132996489T>C	ENST00000254624.5	+	15	1904	c.1679T>C	c.(1678-1680)aTt>aCt	p.I560T	EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T|EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	560						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTTATAACTATTGAACTGGCT	0.363																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1678-1680)aTt>aCt		EFR3 homolog A (S. cerevisiae)							128.0	127.0	127.0					8																	132996489		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132996489T>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1679T>C	8.37:g.132996489T>C	ENSP00000254624:p.Ile560Thr					EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T|EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T	p.I560T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		15	1904	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		560					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1679T>C	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603648	0.87157	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.39406	1.08;1.08;1.09	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58810	1.83	0.80722	D	1	P	0.41131	0.739	B	0.40901	0.343	T	0.49093	-0.8975	10	0.87932	D	0	-25.7963	15.7305	0.77800	0.0:0.0:0.0:1.0	.	560	Q14156	EFR3A_HUMAN	T	560;560;560;524	ENSP00000254624:I560T;ENSP00000334769:I560T;ENSP00000428086:I524T	ENSP00000254624:I560T	I	+	2	0	EFR3A	133065671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.299000	0.77371	0.528000	0.53228	ATT		0.363	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		67	318	0	0	0	1	0	67	318				
IFI44L	10964	broad.mit.edu	37	1	79094664	79094664	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79094664G>T	ENST00000370751.5	+	3	686	c.507G>T	c.(505-507)aaG>aaT	p.K169N	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	169					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGACATAAAGAGGATAATTA	0.299																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(505-507)aaG>aaT		interferon-induced protein 44-like							85.0	88.0	87.0					1																	79094664		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79094664G>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.507G>T	1.37:g.79094664G>T	ENSP00000359787:p.Lys169Asn					IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	p.K169N	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			3	686	+			169					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.507G>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	3.842	-0.033663	0.07543	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.15256	3.04;2.44	2.88	-1.53	0.08611	.	0.483713	0.17055	N	0.188776	T	0.03095	0.0091	N	0.25647	0.755	0.19300	N	0.99998	B	0.14805	0.011	B	0.15484	0.013	T	0.40887	-0.9539	10	0.39692	T	0.17	5.2127	6.8939	0.24245	0.1307:0.4212:0.4482:0.0	.	169	Q53G44	IF44L_HUMAN	N	169;146	ENSP00000359787:K169N;ENSP00000400784:K146N	ENSP00000359787:K169N	K	+	3	2	IFI44L	78867252	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.340000	0.07821	-0.322000	0.08615	-0.480000	0.04831	AAG		0.299	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		18	205	1	0	1.64293e-13	1	1.77503e-13	18	205				
EME2	197342	broad.mit.edu	37	16	1825702	1825702	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1825702C>A	ENST00000568449.1	+	6	800				EME2_ENST00000307394.7_Missense_Mutation_p.L317M|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GATGCCAAGGCTGAAGGGGGG	0.607								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(949-951)Ctg>Atg	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							73.0	73.0	73.0					16																	1825702		2198	4300	6498	SO:0001627	intron_variant	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1825702C>A	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.779+17C>A	16.37:g.1825702C>A						EME2_ENST00000568449.1_Intron	p.L317M			A4GXA9	EME2_HUMAN			6	949	+			266					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.949C>A	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688038	0.29962	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	3.9	-2.1	0.07210	.	2.683260	0.02107	N	0.054434	T	0.22513	0.0543	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09335	-1.0679	6	0.34782	T	0.22	5.8205	1.4373	0.02346	0.1275:0.3574:0.1738:0.3412	.	.	.	.	M	317;273	.	ENSP00000303779:L317M	L	+	1	2	EME2	1765703	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.471000	0.06631	-0.202000	0.10268	-0.221000	0.12465	CTG		0.607	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		68	409	1	0	9.4991e-31	1	1.11549e-30	68	409				
CHPF2	54480	broad.mit.edu	37	7	150935457	150935457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150935457C>T	ENST00000035307.2	+	4	3522	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.A662V|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	670					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CAGGCTTCTGCGGAGGGCTGC	0.711																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(2008-2010)gCg>gTg		chondroitin polymerizing factor 2							14.0	16.0	15.0					7																	150935457		2194	4293	6487	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935457C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.2009C>T	7.37:g.150935457C>T	ENSP00000035307:p.Ala670Val					CHPF2_ENST00000495645.1_Missense_Mutation_p.A662V	p.A670V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	3522	+			670					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.2009C>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702049	0.48307	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.16196	2.36;2.36	4.81	3.93	0.45458	.	0.235349	0.42964	D	0.000628	T	0.10208	0.0250	N	0.14661	0.345	0.36327	D	0.858613	P;B	0.48834	0.916;0.0	B;B	0.38755	0.281;0.001	T	0.19418	-1.0306	10	0.72032	D	0.01	-7.7357	12.433	0.55584	0.0:0.9194:0.0:0.0806	.	670;662	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	V	662;670	ENSP00000418914:A662V;ENSP00000035307:A670V	ENSP00000035307:A670V	A	+	2	0	CHPF2	150566390	1.000000	0.71417	0.299000	0.25016	0.957000	0.61999	4.766000	0.62279	1.246000	0.43901	0.655000	0.94253	GCG		0.711	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		20	91	0	0	0	1	0	20	91				
TAF5L	27097	broad.mit.edu	37	1	229738419	229738419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229738419G>A	ENST00000366676.1	-	3	494	c.495C>T	c.(493-495)gtC>gtT	p.V165V	TAF5L_ENST00000258281.2_Silent_p.V165V|TAF5L_ENST00000366675.3_Silent_p.V165V			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	165					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGAGACGGACCACGTACT	0.463																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(493-495)gtC>gtT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							200.0	190.0	193.0					1																	229738419		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738419G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.495C>T	1.37:g.229738419G>A						TAF5L_ENST00000258281.2_Silent_p.V165V|TAF5L_ENST00000366676.1_Silent_p.V165V	p.V165V	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	583	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	165					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.495C>T	CCDS1581.1																																																																																				0.463	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		53	590	0	0	0	1	0	53	590				
WDFY3	23001	broad.mit.edu	37	4	85750273	85750273	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750273G>A	ENST00000295888.4	-	9	1247	c.840C>T	c.(838-840)gtC>gtT	p.V280V	WDFY3_ENST00000322366.6_Silent_p.V280V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	280					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.V280V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACATTTCGACAATTTCTA	0.358																																						ENST00000322366.6																			1	Substitution - coding silent(1)	p.V280V(1)	large_intestine(1)	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(838-840)gtC>gtT		WD repeat and FYVE domain containing 3							87.0	92.0	90.0					4																	85750273		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85750273G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.840C>T	4.37:g.85750273G>A						WDFY3_ENST00000295888.4_Silent_p.V280V	p.V280V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	9	1247	-		Hepatocellular(203;0.114)	280					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.840C>T	CCDS3609.1																																																																																				0.358	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		81	356	0	0	0	1	0	81	356				
MYO15A	51168	broad.mit.edu	37	17	18041528	18041528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18041528C>T	ENST00000205890.5	+	17	5313	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1659	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCATCCTGCGGATCCTTGA	0.557																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(4975-4977)Cgg>Tgg		myosin XVA							91.0	92.0	92.0					17																	18041528		2198	4294	6492	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18041528C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4975C>T	17.37:g.18041528C>T	ENSP00000205890:p.Arg1659Trp						p.R1659W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			17	5313	+	all_neural(463;0.228)		1659			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.4975C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688329	0.48097	.	.	ENSG00000091536	ENST00000205890	D	0.95205	-3.64	5.64	3.43	0.39272	Myosin head, motor domain (3);	.	.	.	.	D	0.96494	0.8856	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96458	0.9339	9	0.72032	D	0.01	.	11.8686	0.52507	0.2227:0.6798:0.0976:0.0	.	1659	Q9UKN7	MYO15_HUMAN	W	1659	ENSP00000205890:R1659W	ENSP00000205890:R1659W	R	+	1	2	MYO15A	17982253	0.994000	0.37717	1.000000	0.80357	0.645000	0.38454	1.591000	0.36665	1.358000	0.45922	0.655000	0.94253	CGG		0.557	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		57	240	0	0	0	1	0	57	240				
AHSG	197	broad.mit.edu	37	3	186334294	186334294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186334294C>T	ENST00000273784.5	+	3	463	c.387C>T	c.(385-387)taC>taT	p.Y129Y	AHSG_ENST00000411641.2_Silent_p.Y129Y	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	129	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGTGGTATACGCAAAATGTG	0.433																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(385-387)taC>taT		alpha-2-HS-glycoprotein							121.0	103.0	109.0					3																	186334294		2203	4300	6503	SO:0001819	synonymous_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186334294C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.387C>T	3.37:g.186334294C>T						AHSG_ENST00000273784.5_Silent_p.Y129Y	p.Y129Y			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	3	606	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		129			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37	c.387C>T																																																																																					0.433	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		32	85	0	0	0	1	0	32	85				
ING5	84289	broad.mit.edu	37	2	242648728	242648728	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242648728G>T	ENST00000313552.6	+	3	233	c.207G>T	c.(205-207)caG>caT	p.Q69H	ING5_ENST00000406941.1_Missense_Mutation_p.Q69H|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	69					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGAAGATCCAGAACGCCTACA	0.577																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(205-207)caG>caT		inhibitor of growth family, member 5							130.0	128.0	129.0					2																	242648728		2203	4296	6499	SO:0001583	missense	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242648728G>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.207G>T	2.37:g.242648728G>T	ENSP00000322142:p.Gln69His					ING5_ENST00000406941.1_Missense_Mutation_p.Q69H|ING5_ENST00000482774.1_3'UTR	p.Q69H	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	233	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	69					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	ENST00000313552.6	37	c.207G>T	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497018	0.85069	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.74	5.74	0.90152	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.968	D	0.87282	0.2293	9	0.72032	D	0.01	-2.5677	19.9111	0.97025	0.0:0.0:1.0:0.0	.	69;69	Q8WYH8;B7Z6R2	ING5_HUMAN;.	H	69	.	ENSP00000322142:Q69H	Q	+	3	2	ING5	242297401	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.745000	0.55119	2.722000	0.93159	0.591000	0.81541	CAG		0.577	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		228	595	1	0	9.60768e-89	1	1.23263e-88	228	595				
TESC	54997	broad.mit.edu	37	12	117494618	117494618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117494618C>T	ENST00000335209.7	-	3	388	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TESC_ENST00000535198.1_5'Flank|TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron			Q96BS2	CHP3_HUMAN	tescalcin	68					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)	p.D121N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CACCTGTTGTCGAAGAAGGCA	0.517																																						ENST00000335209.7																			2	Substitution - Missense(2)	p.D121N(2)	large_intestine(1)|endometrium(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(202-204)Gac>Aac		tescalcin							150.0	116.0	127.0					12																	117494618		2203	4300	6503	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117494618C>T	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.202G>A	12.37:g.117494618C>T	ENSP00000334785:p.Asp68Asn					TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron	p.D68N			Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	3	388	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		68					F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.202G>A	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892513	0.91889	.	.	ENSG00000088992	ENST00000335209;ENST00000392545	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.72626	-0.4236	10	0.33940	T	0.23	-48.5903	17.4632	0.87625	0.0:1.0:0.0:0.0	.	68	Q96BS2	TESC_HUMAN	N	68;121	ENSP00000334785:D68N;ENSP00000376328:D121N	ENSP00000334785:D68N	D	-	1	0	TESC	115979001	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.745000	0.68672	2.401000	0.81631	0.655000	0.94253	GAC		0.517	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		57	308	0	0	0	1	0	57	308				
RALGAPB	57148	broad.mit.edu	37	20	37153514	37153514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37153514C>A	ENST00000262879.6	+	11	1997	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L	RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	571					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						CTCCTTTGTTCTGCTGTGACT	0.378																																						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.(1711-1713)ttC>ttA		Ral GTPase activating protein, beta subunit (non-catalytic)							298.0	273.0	281.0					20																	37153514		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153514C>A	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.1713C>A	20.37:g.37153514C>A	ENSP00000262879:p.Phe571Leu					RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L	p.F571L			Q86X10	RLGPB_HUMAN			11	1997	+			571					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1713C>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970627	0.92919	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.62639	0.01;0.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	L	0.39514	1.22	0.80722	D	1	D;P;P;P	0.67145	0.996;0.954;0.954;0.954	D;D;D;D	0.73380	0.98;0.943;0.943;0.943	T	0.67956	-0.5536	10	0.29301	T	0.29	.	19.4189	0.94712	0.0:1.0:0.0:0.0	.	399;571;571;571	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	L	571;571;571;349;571;399	ENSP00000262879:F571L;ENSP00000380233:F571L	ENSP00000262879:F571L	F	+	3	2	RALGAPB	36586928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.934000	0.63491	2.587000	0.87381	0.561000	0.74099	TTC		0.378	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		167	775	1	0	3.01732e-80	1	3.85853e-80	167	775				
SLCO5A1	81796	broad.mit.edu	37	8	70744640	70744640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744640G>A	ENST00000260126.4	-	2	975	c.269C>T	c.(268-270)gCg>gTg	p.A90V	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGAGCCCCGCCGAAGTGGA	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(268-270)gCg>gTg		solute carrier organic anion transporter family, member 5A1							50.0	54.0	52.0					8																	70744640		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744640G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.269C>T	8.37:g.70744640G>A	ENSP00000260126:p.Ala90Val		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000528658.1_5'UTR	p.A90V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	975	-	Breast(64;0.0654)		90					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.269C>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244930	0.39697	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.44083	1.08;1.44;0.93	4.99	3.15	0.36227	.	1.275500	0.05249	N	0.513614	T	0.32556	0.0833	L	0.29908	0.895	0.30230	N	0.795995	B;B;B;B	0.17268	0.021;0.004;0.004;0.007	B;B;B;B	0.09377	0.002;0.002;0.002;0.004	T	0.24225	-1.0166	10	0.33940	T	0.23	.	7.8051	0.29198	0.1945:0.0:0.8055:0.0	.	90;90;90;90	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	V	90	ENSP00000260126:A90V;ENSP00000434422:A90V;ENSP00000431611:A90V	ENSP00000260126:A90V	A	-	2	0	SLCO5A1	70907194	0.705000	0.27846	0.984000	0.44739	0.814000	0.46013	1.023000	0.30065	1.328000	0.45358	0.555000	0.69702	GCG		0.642	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		56	273	0	0	0	1	0	56	273				
HCN1	348980	broad.mit.edu	37	5	45303919	45303919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45303919C>T	ENST00000303230.4	-	6	1457	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	467					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCAGTTTCCGACAGTTGAA	0.358																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1399-1401)cGg>cAg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							101.0	105.0	104.0					5																	45303919		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303919C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1400G>A	5.37:g.45303919C>T	ENSP00000307342:p.Arg467Gln						p.R467Q	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			6	1457	-			467						Missense_Mutation	SNP	ENST00000303230.4	37	c.1400G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398180	0.96030	.	.	ENSG00000164588	ENST00000303230	D	0.96745	-4.11	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000010	D	0.94798	0.8320	M	0.71036	2.16	0.80722	D	1	D	0.52996	0.957	B	0.33846	0.171	D	0.95524	0.8597	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	467	O60741	HCN1_HUMAN	Q	467	ENSP00000307342:R467Q	ENSP00000307342:R467Q	R	-	2	0	HCN1	45339676	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	CGG		0.358	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		100	478	0	0	0	1	0	100	478				
ZNF536	9745	broad.mit.edu	37	19	30935229	30935229	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935229C>T	ENST00000355537.3	+	2	907	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	254					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGGCCCACCCGGTGCCCTC	0.736																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(760-762)Ccg>Tcg		zinc finger protein 536							5.0	7.0	6.0					19																	30935229		1995	3958	5953	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935229C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.760C>T	19.37:g.30935229C>T	ENSP00000347730:p.Pro254Ser						p.P254S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	907	+	Esophageal squamous(110;0.0834)		254					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.760C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960870	0.18583	.	.	ENSG00000198597	ENST00000355537	T	0.09073	3.02	5.7	5.7	0.88788	.	0.051124	0.85682	D	0.000000	T	0.08802	0.0218	L	0.32530	0.975	0.45979	D	0.998794	P;P	0.48294	0.666;0.908	B;P	0.46585	0.162;0.521	T	0.11036	-1.0604	10	0.05959	T	0.93	-30.3078	14.6357	0.68689	0.1456:0.8544:0.0:0.0	.	254;254	A7E228;O15090	.;ZN536_HUMAN	S	254	ENSP00000347730:P254S	ENSP00000347730:P254S	P	+	1	0	ZNF536	35627069	1.000000	0.71417	0.958000	0.39756	0.891000	0.51852	1.929000	0.40114	2.702000	0.92279	0.491000	0.48974	CCG		0.736	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		26	98	0	0	0	1	0	26	98				
CAPNS1	826	broad.mit.edu	37	19	36636953	36636953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36636953G>A	ENST00000246533.3	+	8	1199	c.601G>A	c.(601-603)Gca>Aca	p.A201T	CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	201	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTTGAGGCAGCAGGTATGGC	0.572																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(601-603)Gca>Aca		calpain, small subunit 1							160.0	157.0	158.0					19																	36636953		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36636953G>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.601G>A	19.37:g.36636953G>A	ENSP00000246533:p.Ala201Thr					CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T	p.A201T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	1199	+	Esophageal squamous(110;0.162)		201			EF-hand 3.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.601G>A	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.324394	0.81580	.	.	ENSG00000126247	ENST00000246533	T	0.47869	0.83	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72494	-0.4276	10	0.72032	D	0.01	.	16.5532	0.84477	0.0:0.0:1.0:0.0	.	201	P04632	CPNS1_HUMAN	T	201	ENSP00000246533:A201T	ENSP00000246533:A201T	A	+	1	0	CAPNS1	41328793	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	8.821000	0.92009	2.576000	0.86940	0.561000	0.74099	GCA		0.572	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			208	900	0	0	0	1	0	208	900				
VCAN	1462	broad.mit.edu	37	5	82779357	82779357	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82779357G>T	ENST00000265077.3	+	2	585	c.20G>T	c.(19-21)aGc>aTc	p.S7I	VCAN_ENST00000343200.5_Missense_Mutation_p.S7I|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000513984.1_Missense_Mutation_p.S7I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	7					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATATAAAGAGCATCTTATGG	0.323																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(19-21)aGc>aTc		versican							122.0	117.0	119.0					5																	82779357		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82779357G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.20G>T	5.37:g.82779357G>T	ENSP00000265077:p.Ser7Ile					VCAN_ENST00000513984.1_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000343200.5_Missense_Mutation_p.S7I	p.S7I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	2	585	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	7					P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.20G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824873	0.71143	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	D;D;D;T;T;D	0.86097	-1.99;-1.92;-2.07;3.23;2.94;-1.89	5.35	4.45	0.53987	.	0.194776	0.36134	N	0.002767	D	0.87641	0.6228	L	0.60455	1.87	0.23559	N	0.997417	D;B;P;D;B	0.58970	0.984;0.01;0.728;0.981;0.167	P;B;B;P;B	0.58721	0.844;0.009;0.25;0.716;0.042	T	0.79037	-0.1967	10	0.22706	T	0.39	.	12.4398	0.55619	0.0:0.0:0.8321:0.1679	.	7;7;7;7;7	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	I	7	ENSP00000265077:S7I;ENSP00000340062:S7I;ENSP00000342768:S7I;ENSP00000426251:S7I;ENSP00000426715:S7I;ENSP00000421362:S7I	ENSP00000265077:S7I	S	+	2	0	VCAN	82815113	1.000000	0.71417	0.980000	0.43619	0.768000	0.43524	2.325000	0.43840	1.182000	0.42928	0.591000	0.81541	AGC		0.323	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		34	180	1	0	3.76114e-14	1	4.07806e-14	34	180				
PGLYRP4	57115	broad.mit.edu	37	1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153312923C>T	ENST00000359650.5	-	7	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249H	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCAGCAGGCGGCACTCATC	0.542																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(745-747)cGc>cAc		peptidoglycan recognition protein 4							101.0	97.0	99.0					1																	153312923		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153312923C>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.758G>A	1.37:g.153312923C>T	ENSP00000352672:p.Arg253His					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R253H	p.R249H			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1104	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		253					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.746G>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996509	0.35226	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	-1.61	0.08399	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;D	0.65987	0.901;0.94	T	0.07947	-1.0746	10	0.45353	T	0.12	-24.8992	7.2323	0.26049	0.0:0.3842:0.0:0.6158	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	249;253	ENSP00000357728:R249H;ENSP00000352672:R253H	ENSP00000352672:R253H	R	-	2	0	PGLYRP4	151579547	0.000000	0.05858	0.397000	0.26308	0.498000	0.33706	-1.787000	0.01764	-0.225000	0.09913	0.655000	0.94253	CGC		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		98	332	0	0	0	1	0	98	332				
PPP1R13L	10848	broad.mit.edu	37	19	45889369	45889369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45889369C>T	ENST00000418234.2	-	9	1963	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	629					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGGAGGAGCACCAGAGGGTTG	0.736																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1885-1887)Gtg>Atg		protein phosphatase 1, regulatory subunit 13 like							8.0	9.0	9.0					19																	45889369		2184	4267	6451	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45889369C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1885G>A	19.37:g.45889369C>T	ENSP00000403902:p.Val629Met					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	p.V629M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	9	1963	-		all_neural(266;0.224)|Ovarian(192;0.231)	629					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1885G>A	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052486	0.55218	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58060	0.36;0.36	4.99	4.99	0.66335	Src homology-3 domain (1);Ankyrin repeat-containing domain (2);	0.197616	0.44285	D	0.000463	T	0.55940	0.1952	N	0.19112	0.55	0.42107	D	0.991363	D;D	0.71674	0.998;0.997	P;P	0.61800	0.894;0.886	T	0.62291	-0.6885	10	0.87932	D	0	.	15.8232	0.78676	0.0:1.0:0.0:0.0	.	629;208	Q8WUF5;A7YME7	IASPP_HUMAN;.	M	629;629;203	ENSP00000403902:V629M;ENSP00000354218:V629M	ENSP00000221478:V203M	V	-	1	0	PPP1R13L	50581209	1.000000	0.71417	0.994000	0.49952	0.718000	0.41266	5.135000	0.64777	2.601000	0.87937	0.561000	0.74099	GTG		0.736	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		7	46	0	0	0	1	0	7	46				
ARHGEF10L	55160	broad.mit.edu	37	1	18023551	18023551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18023551C>T	ENST00000361221.3	+	29	3675	c.3516C>T	c.(3514-3516)ctC>ctT	p.L1172L	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000452522.1_Silent_p.L1133L|ARHGEF10L_ENST00000375408.3_Silent_p.L945L|ARHGEF10L_ENST00000167825.4_Silent_p.L875L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1172						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGGCATCCTCTTGCAGTACC	0.701																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3514-3516)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 10-like							21.0	21.0	21.0					1																	18023551		2195	4295	6490	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023551C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3516C>T	1.37:g.18023551C>T						ARHGEF10L_ENST00000452522.1_Silent_p.L1133L|ARHGEF10L_ENST00000167825.4_Silent_p.L875L|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.L945L	p.L1172L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3675	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1172					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.3516C>T	CCDS182.1																																																																																				0.701	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		30	82	0	0	0	1	0	30	82				
FAM179B	23116	broad.mit.edu	37	14	45432488	45432488	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432488C>T	ENST00000361577.3	+	1	1078	c.864C>T	c.(862-864)ggC>ggT	p.G288G	FAM179B_ENST00000361462.2_Silent_p.G288G|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Silent_p.G288G|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	288										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCGACTTGGCCAAGACAGGT	0.493																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(862-864)ggC>ggT		family with sequence similarity 179, member B							75.0	80.0	78.0					14																	45432488		2203	4300	6503	SO:0001819	synonymous_variant	23116						binding	g.chr14:45432488C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.864C>T	14.37:g.45432488C>T						FAM179B_ENST00000361577.3_Silent_p.G288G|FAM179B_ENST00000382233.2_Silent_p.G288G	p.G288G			Q9Y4F4	F179B_HUMAN			1	1047	+			288					Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	c.864C>T	CCDS9681.1																																																																																				0.493	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		104	400	0	0	0	1	0	104	400				
ISM1	140862	broad.mit.edu	37	20	13279702	13279702	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13279702G>A	ENST00000262487.4	+	6	997	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	331	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CACTGAGGTGGCCTACAGCAC	0.582																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(991-993)Gcc>Acc		isthmin 1, angiogenesis inhibitor							46.0	53.0	51.0					20																	13279702		2120	4239	6359	SO:0001583	missense	140862					extracellular region		g.chr20:13279702G>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.991G>A	20.37:g.13279702G>A	ENSP00000262487:p.Ala331Thr					TASP1_ENST00000539805.1_Intron	p.A331T	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			6	997	+			331			AMOP.		Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.991G>A	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491755	0.84962	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.48201	0.82;0.83	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61969	-0.6953	10	0.59425	D	0.04	-24.2273	20.2133	0.98290	0.0:0.0:1.0:0.0	.	331	B1AKI9	ISM1_HUMAN	T	331;285	ENSP00000262487:A331T;ENSP00000409938:A285T	ENSP00000262487:A331T	A	+	1	0	ISM1	13227702	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.822000	0.99363	2.786000	0.95864	0.655000	0.94253	GCC		0.582	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			30	102	0	0	0	1	0	30	102				
CGRRF1	10668	broad.mit.edu	37	14	55004875	55004875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55004875G>A	ENST00000216420.7	+	6	905	c.773G>A	c.(772-774)gGa>gAa	p.G258E	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	258					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GAAAAGGTGGGACTCTCTGAA	0.423																																						ENST00000216420.7																			0				endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						c.(772-774)gGa>gAa		cell growth regulator with ring finger domain 1							102.0	96.0	98.0					14																	55004875		2203	4300	6503	SO:0001583	missense	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:55004875G>A	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.773G>A	14.37:g.55004875G>A	ENSP00000216420:p.Gly258Glu					CGRRF1_ENST00000557512.1_3'UTR	p.G258E	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN			6	905	+			258					Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	37	c.773G>A	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	G	8.102	0.776869	0.16120	.	.	ENSG00000100532	ENST00000216420	T	0.27104	1.69	5.31	4.4	0.53042	.	0.255488	0.37809	N	0.001938	T	0.34600	0.0903	L	0.50333	1.59	0.45554	D	0.998509	D	0.63880	0.993	P	0.52793	0.709	T	0.05305	-1.0893	10	0.24483	T	0.36	-17.8994	15.2224	0.73324	0.0:0.0:0.8583:0.1417	.	258	Q99675	CGRF1_HUMAN	E	258	ENSP00000216420:G258E	ENSP00000216420:G258E	G	+	2	0	CGRRF1	54074625	1.000000	0.71417	0.078000	0.20375	0.016000	0.09150	8.490000	0.90464	1.425000	0.47237	0.591000	0.81541	GGA		0.423	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		61	309	0	0	0	1	0	61	309				
CORO1B	57175	broad.mit.edu	37	11	67206391	67206391	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67206391G>A	ENST00000341356.5	-	10	1205	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	CORO1B_ENST00000393893.1_Silent_p.P365P|CORO1B_ENST00000539724.1_5'UTR|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	365					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGGCTGTGTCGGGGTACAGAT	0.687																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1093-1095)ccC>ccT		coronin, actin binding protein, 1B							10.0	13.0	12.0					11																	67206391		2186	4278	6464	SO:0001819	synonymous_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67206391G>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1095C>T	11.37:g.67206391G>A						CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Silent_p.P365P	p.P365P	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		11	1198	-			365					B2RD45	Silent	SNP	ENST00000341356.5	37	c.1095C>T	CCDS8164.1																																																																																				0.687	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		20	92	0	0	0	1	0	20	92				
GPR139	124274	broad.mit.edu	37	16	20043354	20043354	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043354C>T	ENST00000570682.1	-	2	1065	c.765G>A	c.(763-765)gcG>gcA	p.A255A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	255					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(763-765)gcG>gcA		G protein-coupled receptor 139							61.0	65.0	64.0					16																	20043354		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043354C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.765G>A	16.37:g.20043354C>T							p.A255A	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1065	-			255					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.765G>A	CCDS32398.1																																																																																				0.532	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		79	332	0	0	0	1	0	79	332				
TMEM19	55266	broad.mit.edu	37	12	72080331	72080331	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72080331C>A	ENST00000266673.5	+	0	465				RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_De_novo_Start_InFrame	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19							integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GATTTTTATGCTTGTTTGGTC	0.438																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9								transmembrane protein 19																																						55266					integral to membrane		g.chr12:72080331C>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558		12.37:g.72080331C>A						RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_De_novo_Start_InFrame		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	0	465	+		Breast(359;0.0889)						B2RDL2|Q53FY3|Q9NV41	Translation_Start_Site	SNP	ENST00000266673.5	37		CCDS9002.1																																																																																				0.438	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		7	33	1	0	0.00198382	1	0.00200138	7	33				
HHIPL2	79802	broad.mit.edu	37	1	222721298	222721298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222721298A>G	ENST00000343410.6	-	1	147	c.89T>C	c.(88-90)aTa>aCa	p.I30T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	30					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAACAAGAATATGAGGCAGAG	0.592																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(88-90)aTa>aCa		HHIP-like 2							40.0	46.0	44.0					1																	222721298		1920	4125	6045	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721298A>G	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.89T>C	1.37:g.222721298A>G	ENSP00000342118:p.Ile30Thr						p.I30T	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	147	-			30					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.89T>C	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	A	7.774	0.708145	0.15239	.	.	ENSG00000143512	ENST00000343410	T	0.18960	2.18	4.79	-2.02	0.07388	.	1.115640	0.06652	N	0.762871	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.10111	T	0.7	1.0583	8.3151	0.32095	0.7117:0.0:0.2883:0.0	.	30	Q6UWX4	HIPL2_HUMAN	T	30	ENSP00000342118:I30T	ENSP00000342118:I30T	I	-	2	0	HHIPL2	220787921	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	-0.261000	0.08694	-0.186000	0.10533	-0.337000	0.08149	ATA		0.592	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		50	222	0	0	0	1	0	50	222				
ARAP3	64411	broad.mit.edu	37	5	141041335	141041335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141041335C>T	ENST00000239440.4	-	21	3100	c.3035G>A	c.(3034-3036)cGc>cAc	p.R1012H	ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H|ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1012	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTTCTCCAGGCGCTGATTCTT	0.572																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3034-3036)cGc>cAc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							70.0	75.0	73.0					5																	141041335		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041335C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3035G>A	5.37:g.141041335C>T	ENSP00000239440:p.Arg1012His					ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H	p.R1012H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			21	3100	-			1012			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3035G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408784	0.96072	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.22743	1.94;1.94;1.94	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061089	0.64402	D	0.000011	T	0.59252	0.2180	M	0.93763	3.455	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.989;0.989	T	0.70059	-0.4976	10	0.87932	D	0	.	18.8077	0.92045	0.0:1.0:0.0:0.0	.	674;843;1012	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	843;1012;674	ENSP00000421826:R843H;ENSP00000239440:R1012H;ENSP00000421468:R674H	ENSP00000239440:R1012H	R	-	2	0	ARAP3	141021519	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.156000	0.77453	2.777000	0.95525	0.655000	0.94253	CGC		0.572	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		136	532	0	0	0	1	0	136	532				
CHUK	1147	broad.mit.edu	37	10	101964413	101964413	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101964413A>G	ENST00000370397.7	-	13	1443	c.1357T>C	c.(1357-1359)Tta>Cta	p.L453L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	453					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGAAGACTTAACCTAAACCAC	0.299																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.e13-1		conserved helix-loop-helix ubiquitous kinase							78.0	73.0	75.0					10																	101964413		2202	4300	6502	SO:0001630	splice_region_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101964413A>G	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1356-1T>C	10.37:g.101964413A>G							p.L453_splice	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	13	1443	-		Colorectal(252;0.117)	453					O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	ENST00000370397.7	37	c.1355_splice	CCDS7488.1																																																																																				0.299	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	Silent	41	158	0	0	0	1	0	41	158				
VAT1	10493	broad.mit.edu	37	17	41169881	41169881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41169881G>T	ENST00000420567.3	-	4	576	c.431C>A	c.(430-432)cCc>cAc	p.P144H	VAT1_ENST00000587173.1_Missense_Mutation_p.P210H|VAT1_ENST00000355653.3_Missense_Mutation_p.P278H			P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TTTGCCCATGGGTTTCAGGAG	0.547																																						ENST00000355653.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(832-834)cCc>cAc		vesicle amine transport 1							109.0	93.0	98.0					17																	41169881		2203	4300	6503	SO:0001583	missense	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41169881G>T	U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"""vesicle amine transport protein 1 homolog (T. californica)"""			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.431C>A	17.37:g.41169881G>T	ENSP00000408553:p.Pro144His					VAT1_ENST00000420567.3_Missense_Mutation_p.P144H|VAT1_ENST00000587173.1_Missense_Mutation_p.P210H	p.P278H	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	928	-		Breast(137;0.000717)	278					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000420567.3	37	c.833C>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.588434	0.86851	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.04706	3.57;3.57	5.38	5.38	0.77491	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.050173	0.85682	D	0.000000	T	0.24661	0.0598	M	0.84585	2.705	0.80722	D	1	D;D	0.56746	0.977;0.976	P;D	0.66979	0.679;0.948	T	0.01692	-1.1294	10	0.30854	T	0.27	-4.7138	19.1326	0.93413	0.0:0.0:1.0:0.0	.	210;278	B4DPX4;Q99536	.;VAT1_HUMAN	H	278;185;144	ENSP00000347872:P278H;ENSP00000408553:P144H	ENSP00000347872:P278H	P	-	2	0	VAT1	38423407	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.848000	0.99507	2.515000	0.84797	0.462000	0.41574	CCC		0.547	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453104.1	NM_006373		45	225	1	0	1.62957e-23	1	1.85347e-23	45	225				
PRR14L	253143	broad.mit.edu	37	22	32108130	32108130	+	Missense_Mutation	SNP	C	C	T	rs540552404		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32108130C>T	ENST00000327423.6	-	4	5884	c.5695G>A	c.(5695-5697)Gaa>Aaa	p.E1899K	PRR14L_ENST00000397493.2_Missense_Mutation_p.E1899K|PRR14L_ENST00000434485.1_Missense_Mutation_p.E1899K	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1899										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GAAGAGATTTCGAAGGAGCAG	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18859	0.0		0.0	False		,,,				2504	0.0					ENST00000327423.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						c.(5695-5697)Gaa>Aaa		proline rich 14-like							99.0	94.0	96.0					22																	32108130		2203	4300	6503	SO:0001583	missense	253143							g.chr22:32108130C>T	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5695G>A	22.37:g.32108130C>T	ENSP00000331845:p.Glu1899Lys					PRR14L_ENST00000397493.2_Missense_Mutation_p.E1899K|PRR14L_ENST00000434485.1_Missense_Mutation_p.E1899K	p.E1899K	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN			4	5884	-			1899					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	c.5695G>A	CCDS13900.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.95|16.95	3.263306|3.263306	0.59431|0.59431	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485|ENST00000330495	T;T;T|.	0.34472|.	1.36;1.36;1.36|.	5.66|5.66	2.45|2.45	0.29901|0.29901	.|.	0.509449|.	0.22600|.	N|.	0.057964|.	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.22421|0.22421	0.69|0.69	0.26226|0.26226	N|N	0.979083|0.979083	P;P;P|.	0.50617|.	0.937;0.842;0.842|.	B;B;B|.	0.43623|.	0.425;0.129;0.214|.	T|T	0.20472|0.20472	-1.0274|-1.0274	10|5	0.21540|.	T|.	0.41|.	-5.2967|-5.2967	7.4879|7.4879	0.27443|0.27443	0.0:0.6671:0.0:0.3329|0.0:0.6671:0.0:0.3329	.|.	1899;1899;1899|.	Q5THK1-2;Q5THK1;Q5THK1-4|.	.;PR14L_HUMAN;.|.	K|Q	1899|201	ENSP00000380630:E1899K;ENSP00000331845:E1899K;ENSP00000388314:E1899K|.	ENSP00000331845:E1899K|.	E|R	-|-	1|2	0|0	PRR14L|PRR14L	30438130|30438130	0.939000|0.939000	0.31865|0.31865	0.952000|0.952000	0.39060|0.39060	0.998000|0.998000	0.95712|0.95712	0.650000|0.650000	0.24858|0.24858	0.722000|0.722000	0.32252|0.32252	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.507	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		18	443	0	0	0	1	0	18	443				
FGD1	2245	broad.mit.edu	37	X	54473856	54473856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54473856A>G	ENST00000375135.3	-	17	3201	c.2468T>C	c.(2467-2469)gTc>gCc	p.V823A		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	823	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGCAGATGACGCTGTTCTC	0.532																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2467-2469)gTc>gCc		FYVE, RhoGEF and PH domain containing 1							89.0	52.0	65.0					X																	54473856		2203	4299	6502	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54473856A>G	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2468T>C	X.37:g.54473856A>G	ENSP00000364277:p.Val823Ala						p.V823A	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			17	3201	-			823			PH 2.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2468T>C	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625943	0.66901	.	.	ENSG00000102302	ENST00000375135	T	0.12879	2.64	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.325727	0.22324	N	0.061559	T	0.15219	0.0367	L	0.41236	1.265	0.40850	D	0.983745	B	0.22983	0.078	B	0.29440	0.102	T	0.03514	-1.1029	10	0.66056	D	0.02	-5.9167	13.3064	0.60355	1.0:0.0:0.0:0.0	.	823	P98174	FGD1_HUMAN	A	823	ENSP00000364277:V823A	ENSP00000364277:V823A	V	-	2	0	FGD1	54490581	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	8.526000	0.90588	1.784000	0.52394	0.430000	0.28490	GTC		0.532	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		25	84	0	0	0	1	0	25	84				
TLE4	7091	broad.mit.edu	37	9	82267698	82267698	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82267698A>G	ENST00000376552.2	+	7	1599	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TLE4_ENST00000376544.3_Missense_Mutation_p.D194G|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000376520.4_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.D194G	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	194	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATGACAATGATCACCAAAGA	0.483																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(580-582)gAt>gGt		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							79.0	78.0	78.0					9																	82267698		1949	4149	6098	SO:0001583	missense	7091							g.chr9:82267698A>G	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.581A>G	9.37:g.82267698A>G	ENSP00000365735:p.Asp194Gly					TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376552.2_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.D194G|TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000376537.4_Missense_Mutation_p.D194G	p.D194G			O60756	BCE1_HUMAN			7	1409	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.581A>G	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432175	0.62844	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.49139	0.82;0.84;0.91;0.79;0.91;0.93;0.79;1.47;1.88	6.04	6.04	0.98038	.	0.254009	0.42420	D	0.000719	T	0.50394	0.1613	L	0.45137	1.4	0.80722	D	1	B;B;P;B	0.38250	0.001;0.122;0.624;0.145	B;B;P;B	0.44772	0.005;0.06;0.46;0.187	T	0.46952	-0.9154	10	0.44086	T	0.13	-21.7834	16.5885	0.84745	1.0:0.0:0.0:0.0	.	169;194;194;194	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	G	194;194;194;208;208;194;169;192;179;64	ENSP00000365735:D194G;ENSP00000365727:D194G;ENSP00000365703:D194G;ENSP00000415423:D208G;ENSP00000365720:D194G;ENSP00000265284:D169G;ENSP00000412567:D192G;ENSP00000409313:D179G;ENSP00000417844:D64G	ENSP00000265284:D169G	D	+	2	0	TLE4	81457518	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.672000	0.91181	2.317000	0.78254	0.460000	0.39030	GAT		0.483	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		61	286	0	0	0	1	0	61	286				
ILF3	3609	broad.mit.edu	37	19	10787961	10787961	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10787961A>C	ENST00000590261.1	+	4	534	c.534A>C	c.(532-534)gaA>gaC	p.E178D	ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000449870.1_Missense_Mutation_p.E178D|ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000407004.3_Missense_Mutation_p.E178D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	178	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTGTCAGAGAAGAAATGGAGA	0.463																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(532-534)gaA>gaC		interleukin enhancer binding factor 3, 90kDa							90.0	82.0	85.0					19																	10787961		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10787961A>C	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.534A>C	19.37:g.10787961A>C	ENSP00000468156:p.Glu178Asp					ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000407004.3_Missense_Mutation_p.E178D|ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000590261.1_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D	p.E178D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		5	851	+			178			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.534A>C	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801770	0.70682	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.7	3.62	0.41486	DZF (2);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.59436	1.845	0.53005	D	0.999969	D;D;P;D;D	0.71674	0.996;0.997;0.924;0.998;0.996	D;D;B;D;D	0.79108	0.987;0.992;0.421;0.99;0.987	T	0.54892	-0.8225	10	0.30078	T	0.28	.	9.0255	0.36227	0.847:0.0:0.153:0.0	.	178;178;178;178;178	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	D	178	ENSP00000404121:E178D;ENSP00000315205:E178D;ENSP00000405436:E178D;ENSP00000384660:E178D;ENSP00000250241:E178D	ENSP00000250241:E178D	E	+	3	2	ILF3	10648961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.429000	0.34903	0.971000	0.38288	0.528000	0.53228	GAA		0.463	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			61	281	0	0	0	1	0	61	281				
KRTAP4-6	81871	broad.mit.edu	37	17	39296393	39296393	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39296393C>T	ENST00000345847.4	-	1	346	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	116	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCTGGGGCGACAGCAGCT	0.647																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(346-348)cGc>cAc		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296393C>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.347G>A	17.37:g.39296393C>T	ENSP00000328270:p.Arg116His						p.R116H	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	346	-			112			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.347G>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.887676	0.33348	.	.	ENSG00000198090	ENST00000345847	T	0.01484	4.84	5.03	0.695	0.18070	.	.	.	.	.	T	0.02970	0.0088	L	0.60455	1.87	0.09310	N	1	.	.	.	.	.	.	T	0.41142	-0.9525	7	0.42905	T	0.14	.	3.8009	0.08758	0.1615:0.4786:0.0:0.3598	.	.	.	.	H	116	ENSP00000328270:R116H	ENSP00000328270:R116H	R	-	2	0	KRTAP4-6	36549919	0.000000	0.05858	0.129000	0.21949	0.011000	0.07611	-0.824000	0.04438	0.152000	0.19188	-0.141000	0.14075	CGC		0.647	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			10	255	0	0	0	1	0	10	255				
NLRP11	204801	broad.mit.edu	37	19	56320642	56320642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56320642C>T	ENST00000589093.1	-	3	1427	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000443188.1_Missense_Mutation_p.R445H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	445	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAACTTGTAACGGTCTTTATG	0.468																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1333-1335)cGt>cAt		NLR family, pyrin domain containing 11							63.0	63.0	63.0					19																	56320642		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320642C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1334G>A	19.37:g.56320642C>T	ENSP00000466285:p.Arg445His					NLRP11_ENST00000589093.1_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H	p.R445H	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2044	-		Colorectal(82;0.0002)	445			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1334G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	1.474	-0.559011	0.03967	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74209	-0.82;-0.75	2.2	-3.03	0.05429	.	.	.	.	.	T	0.42177	0.1191	N	0.03608	-0.345	0.09310	N	1	B;B	0.27997	0.125;0.197	B;B	0.26864	0.019;0.074	T	0.30880	-0.9963	9	0.15066	T	0.55	.	4.319	0.11007	0.0:0.4651:0.2116:0.3233	.	445;445	P59045;P59045-2	NAL11_HUMAN;.	H	445	ENSP00000409898:R445H;ENSP00000353251:R445H	ENSP00000353251:R445H	R	-	2	0	NLRP11	61012454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.077000	0.00082	-0.957000	0.03627	-0.302000	0.09304	CGT		0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		65	264	0	0	0	1	0	65	264				
ABCA13	154664	broad.mit.edu	37	7	48259051	48259051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259051G>A	ENST00000435803.1	+	4	412	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	130					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAATGATGGACAAGGCAAA	0.423																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(388-390)Gac>Aac		ATP-binding cassette, sub-family A (ABC1), member 13							118.0	112.0	114.0					7																	48259051		1856	4099	5955	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48259051G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.388G>A	7.37:g.48259051G>A	ENSP00000411096:p.Asp130Asn						p.D130N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			4	412	+			130					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.388G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391810	0.25118	.	.	ENSG00000179869	ENST00000435803	T	0.30981	1.51	5.58	3.77	0.43336	.	0.553548	0.16120	N	0.228711	T	0.27278	0.0669	L	0.47716	1.5	0.80722	D	1	B;B	0.15141	0.002;0.012	B;B	0.14578	0.003;0.011	T	0.02610	-1.1134	10	0.27785	T	0.31	.	11.5377	0.50648	0.1596:0.0:0.8404:0.0	.	130;130	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	N	130	ENSP00000411096:D130N	ENSP00000409268:D130N	D	+	1	0	ABCA13	48229597	0.983000	0.35010	0.864000	0.33941	0.340000	0.28889	0.453000	0.21811	0.408000	0.25621	-0.797000	0.03246	GAC		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		100	389	0	0	0	1	0	100	389				
WNT2	7472	broad.mit.edu	37	7	116937895	116937895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937895G>A	ENST00000265441.3	-	4	923	c.624C>T	c.(622-624)tgC>tgT	p.C208C		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	208					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCACCCCGTGGCACTTGCACT	0.547																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(622-624)tgC>tgT		wingless-type MMTV integration site family member 2							100.0	95.0	97.0					7																	116937895		2203	4300	6503	SO:0001819	synonymous_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937895G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.624C>T	7.37:g.116937895G>A							p.C208C	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	923	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		208					A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.624C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921671	0.33908	.	.	ENSG00000105989	ENST00000491214	T	0.61980	0.06	5.58	-1.85	0.07784	.	.	.	.	.	T	0.38931	0.1059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34129	-0.9841	6	0.02654	T	1	.	12.2951	0.54842	0.4204:0.0:0.5796:0.0	.	.	.	.	S	116	ENSP00000419466:P116S	ENSP00000419466:P116S	P	-	1	0	WNT2	116725131	1.000000	0.71417	0.982000	0.44146	0.506000	0.33950	0.699000	0.25586	-0.144000	0.11314	-0.367000	0.07326	CCA		0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		117	567	0	0	0	1	0	117	567				
INF2	64423	broad.mit.edu	37	14	105181089	105181089	+	Missense_Mutation	SNP	C	C	T	rs372714774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105181089C>T	ENST00000392634.4	+	21	3702	c.3590C>T	c.(3589-3591)gCg>gTg	p.A1197V	INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1197					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCGAGGATGCGGTGACCGAC	0.687																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3589-3591)gCg>gTg		inverted formin, FH2 and WH2 domain containing		C	VAL/ALA,VAL/ALA	0,4032		0,0,2016	14.0	18.0	17.0		3590,3590	3.5	0.0	14		17	1,8261		0,1,4130	no	missense,missense	INF2	NM_022489.3,NM_001031714.3	64,64	0,1,6146	TT,TC,CC		0.0121,0.0,0.0081	benign,benign	1197/1250,1197/1241	105181089	1,12293	2016	4131	6147	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105181089C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3590C>T	14.37:g.105181089C>T	ENSP00000376410:p.Ala1197Val					INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	p.A1197V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3702	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1197					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3590C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631763	0.29068	0.0	1.21E-4	ENSG00000203485	ENST00000330634;ENST00000392634	T;D	0.81499	-1.49;-1.5	4.44	3.55	0.40652	.	0.371075	0.19509	N	0.112548	T	0.63558	0.2521	N	0.17082	0.46	0.25501	N	0.987559	B;B	0.31318	0.319;0.213	B;B	0.17433	0.018;0.008	T	0.56426	-0.7981	10	0.52906	T	0.07	.	10.3378	0.43860	0.0:0.9063:0.0:0.0937	.	1197;1197	Q27J81-2;Q27J81	.;INF2_HUMAN	V	1197	ENSP00000376406:A1197V;ENSP00000376410:A1197V	ENSP00000252527:A665V	A	+	2	0	INF2	104252134	0.000000	0.05858	0.019000	0.16419	0.218000	0.24690	0.976000	0.29462	0.871000	0.35750	0.491000	0.48974	GCG		0.687	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		23	103	0	0	0	1	0	23	103				
TEX14	56155	broad.mit.edu	37	17	56679270	56679270	+	Silent	SNP	C	C	T	rs549017164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56679270C>T	ENST00000240361.8	-	13	1678	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	TEX14_ENST00000389934.3_Silent_p.V525V|TEX14_ENST00000349033.5_Silent_p.V525V			Q8IWB6	TEX14_HUMAN	testis expressed 14	531					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGTATCTCTGCACTCTGGGGC	0.458																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1573-1575)gtG>gtA		testis expressed 14							168.0	157.0	161.0					17																	56679270		2203	4300	6503	SO:0001819	synonymous_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56679270C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1593G>A	17.37:g.56679270C>T						TEX14_ENST00000349033.5_Silent_p.V525V|TEX14_ENST00000240361.8_Silent_p.V531V	p.V525V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			13	1692	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		531					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	c.1575G>A	CCDS56042.1																																																																																				0.458	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			53	316	0	0	0	1	0	53	316				
TLR8	51311	broad.mit.edu	37	X	12937820	12937820	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12937820C>A	ENST00000218032.6	+	2	748	c.661C>A	c.(661-663)Cca>Aca	p.P221T	TLR8_ENST00000311912.5_Missense_Mutation_p.P239T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	221					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACCCAAACTGCCAAGCTCCCT	0.368																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(661-663)Cca>Aca		toll-like receptor 8							64.0	69.0	67.0					X																	12937820		2203	4298	6501	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937820C>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.661C>A	X.37:g.12937820C>A	ENSP00000218032:p.Pro221Thr					TLR8_ENST00000311912.5_Missense_Mutation_p.P239T	p.P221T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	748	+			221					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.661C>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044863	0.36085	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00976	5.48;5.48	4.93	4.93	0.64822	.	0.000000	0.40469	N	0.001086	T	0.05868	0.0153	M	0.84511	2.7	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01238	-1.1409	10	0.87932	D	0	.	11.3276	0.49458	0.0:0.901:0.0:0.099	.	221;239	Q9NR97;D1CS70	TLR8_HUMAN;.	T	221;239	ENSP00000218032:P221T;ENSP00000312082:P239T	ENSP00000218032:P221T	P	+	1	0	TLR8	12847741	1.000000	0.71417	0.503000	0.27626	0.029000	0.11900	3.064000	0.49986	2.048000	0.60808	0.523000	0.50628	CCA		0.368	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		109	442	1	0	3.27315e-48	1	4.03804e-48	109	442				
FITM2	128486	broad.mit.edu	37	20	42935595	42935595	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935595T>C	ENST00000396825.3	-	2	479	c.459A>G	c.(457-459)tcA>tcG	p.S153S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	153					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						AGGAGTGACCTGAGATGTCAA	0.582																																						ENST00000396825.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(457-459)tcA>tcG		fat storage-inducing transmembrane protein 2							120.0	87.0	98.0					20																	42935595		2203	4300	6503	SO:0001819	synonymous_variant	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935595T>C	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.459A>G	20.37:g.42935595T>C							p.S153S	NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN			2	479	-			153					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Silent	SNP	ENST00000396825.3	37	c.459A>G	CCDS33473.1																																																																																				0.582	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		9	279	0	0	0	1	0	9	279				
KIAA0368	23392	broad.mit.edu	37	9	114140876	114140876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114140876G>A	ENST00000338205.5	-	35	4157	c.3938C>T	c.(3937-3939)gCg>gTg	p.A1313V	KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1491V|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1319					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTGCTCTGTCGCCCGGAGGCT	0.468																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(4471-4473)gCg>gTg		KIAA0368							95.0	92.0	93.0					9																	114140876		1896	4103	5999	SO:0001583	missense	23392							g.chr9:114140876G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3938C>T	9.37:g.114140876G>A	ENSP00000339889:p.Ala1313Val					KIAA0368_ENST00000338205.5_Missense_Mutation_p.A1313V|KIAA0368_ENST00000374378.3_5'UTR	p.A1491V	NM_001080398.1	NP_001073867.1					37	4471	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.4472C>T		.	.	.	.	.	.	.	.	.	.	G	21.8	4.203697	0.79127	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.55588	0.51	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.79805	2.47	0.80722	D	1	P	0.39352	0.669	B	0.38296	0.27	T	0.64343	-0.6430	10	0.44086	T	0.13	.	19.3995	0.94621	0.0:0.0:1.0:0.0	.	788	B3KXF2	.	V	1313;1491;788	ENSP00000259335:A1491V	ENSP00000259335:A1491V	A	-	2	0	KIAA0368	113180697	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.420000	0.97426	2.645000	0.89757	0.563000	0.77884	GCG		0.468	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		78	319	0	0	0	1	0	78	319				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			11	416	0	0	0	1	0	11	416				
OR1L8	138881	broad.mit.edu	37	9	125329904	125329904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125329904G>T	ENST00000304865.2	-	1	934	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGGATTGAGCATGGATGAC	0.453																																						ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(853-855)Ctc>Atc		olfactory receptor, family 1, subfamily L, member 8							102.0	101.0	101.0					9																	125329904		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125329904G>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.853C>A	9.37:g.125329904G>T	ENSP00000306607:p.Leu285Ile						p.L285I	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	934	-			285					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.853C>A	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326989	0.60743	.	.	ENSG00000171496	ENST00000304865	T	0.44083	0.93	4.64	0.718	0.18202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	N	0.002482	T	0.60689	0.2288	M	0.87456	2.885	0.26209	N	0.979325	D	0.69078	0.997	P	0.62491	0.903	T	0.55166	-0.8183	10	0.87932	D	0	-11.3452	9.2539	0.37571	0.3358:0.0:0.6642:0.0	.	285	Q8NGR8	OR1L8_HUMAN	I	285	ENSP00000306607:L285I	ENSP00000306607:L285I	L	-	1	0	OR1L8	124369725	0.000000	0.05858	0.905000	0.35620	0.963000	0.63663	-0.518000	0.06267	0.304000	0.22809	0.449000	0.29647	CTC		0.453	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			91	495	1	0	4.05997e-52	1	5.04755e-52	91	495				
CHST2	9435	broad.mit.edu	37	3	142840749	142840749	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840749A>G	ENST00000309575.3	+	2	2475	c.1091A>G	c.(1090-1092)cAc>cGc	p.H364R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	364					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCGAGCTCACCGCATGCCC	0.701																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1090-1092)cAc>cGc		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							20.0	24.0	23.0					3																	142840749		2201	4293	6494	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840749A>G	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1091A>G	3.37:g.142840749A>G	ENSP00000307911:p.His364Arg						p.H364R	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2475	+			364					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1091A>G	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	A	7.906	0.735448	0.15574	.	.	ENSG00000175040	ENST00000309575	D	0.96073	-3.9	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.077814	0.51477	D	0.000090	D	0.84520	0.5490	N	0.02802	-0.49	0.40449	D	0.980125	B	0.06786	0.001	B	0.09377	0.004	T	0.79374	-0.1830	10	0.10636	T	0.68	-0.7931	8.6097	0.33795	0.9136:0.0:0.0864:0.0	.	364	Q9Y4C5	CHST2_HUMAN	R	364	ENSP00000307911:H364R	ENSP00000307911:H364R	H	+	2	0	CHST2	144323439	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.052000	0.76634	1.882000	0.54519	0.334000	0.21626	CAC		0.701	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		10	243	0	0	0	1	0	10	243				
ZNF470	388566	broad.mit.edu	37	19	57089583	57089583	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089583C>A	ENST00000330619.8	+	6	2472	c.1786C>A	c.(1786-1788)Ctt>Att	p.L596I	ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GTATGAATGTCTTGAATGTGG	0.433																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1786-1788)Ctt>Att		zinc finger protein 470							96.0	91.0	92.0					19																	57089583		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089583C>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1786C>A	19.37:g.57089583C>A	ENSP00000333223:p.Leu596Ile					ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I|ZNF470_ENST00000601902.1_Intron	p.L596I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2472	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	596					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1786C>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799205	0.31869	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07688	3.17;3.17	4.38	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	L	0.38838	1.175	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.32561	-0.9902	9	0.54805	T	0.06	.	8.1605	0.31196	0.1625:0.5364:0.3011:0.0	.	596	Q6ECI4	ZN470_HUMAN	I	596	ENSP00000375590:L596I;ENSP00000333223:L596I	ENSP00000333223:L596I	L	+	1	0	ZNF470	61781395	0.000000	0.05858	0.655000	0.29622	0.996000	0.88848	-1.176000	0.03099	0.434000	0.26340	0.655000	0.94253	CTT		0.433	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		14	394	1	0	2.31682e-05	1	2.36778e-05	14	394				
SNCAIP	9627	broad.mit.edu	37	5	121786740	121786740	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786740T>G	ENST00000261368.8	+	10	2460	c.2198T>G	c.(2197-2199)tTt>tGt	p.F733C	SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|SNCAIP_ENST00000261367.7_Missense_Mutation_p.F780C|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	733					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGACGCAGGTTTCCTTTCAGC	0.542																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2338-2340)tTt>tGt		synuclein, alpha interacting protein							91.0	93.0	92.0					5																	121786740		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786740T>G	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2198T>G	5.37:g.121786740T>G	ENSP00000261368:p.Phe733Cys					CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C|SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.F733C|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	p.F780C			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3767	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	733					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2339T>G	CCDS4131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.74|13.74	2.327484|2.327484	0.41197|0.41197	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317|ENST00000447854	T;T;T;T;T;T;T;T|.	0.15603|.	4.27;4.81;2.47;2.41;4.8;4.74;2.41;4.48|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.052577|0.052577	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76751|0.76751	0.4031|0.4031	M|M	0.75777|0.75777	2.31|2.31	0.44587|0.44587	D|D	0.99755|0.99755	D;D;B;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.056;1.0;1.0;1.0;0.999;0.999|.	D;D;B;D;D;D;D;D|.	0.87578|.	0.998;0.998;0.117;0.964;0.998;0.964;0.994;0.921|.	T|T	0.79147|0.79147	-0.1923|-0.1923	10|7	0.87932|0.72032	D|D	0|0.01	-23.2289|-23.2289	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	673;361;335;673;367;367;780;733|.	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5|.	.;.;.;.;.;.;.;SNCAP_HUMAN|.	C|V	291;673;733;780;673;367;780;335|356	ENSP00000441681:F291C;ENSP00000422106:F673C;ENSP00000261368:F733C;ENSP00000368848:F780C;ENSP00000368851:F673C;ENSP00000368854:F367C;ENSP00000261367:F780C;ENSP00000394392:F335C|.	ENSP00000261367:F780C|ENSP00000416985:F356V	F|F	+|+	2|1	0|0	SNCAIP|SNCAIP	121814639|121814639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.291000|0.291000	0.27294|0.27294	4.731000|4.731000	0.62022|0.62022	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTT|TTC		0.542	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			54	222	0	0	0	1	0	54	222				
MAGI2	9863	broad.mit.edu	37	7	77975329	77975329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77975329G>A	ENST00000354212.4	-	8	1388	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S|RPL13AP17_ENST00000450028.1_RNA|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	379	Interaction with DDN.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCAGGACAGGATTTTCAAAC	0.423																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1135-1137)Cct>Tct		membrane associated guanylate kinase, WW and PDZ domain containing 2							195.0	183.0	187.0					7																	77975329		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77975329G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1135C>T	7.37:g.77975329G>A	ENSP00000346151:p.Pro379Ser					MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S	p.P379S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			8	1388	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	379			Interaction with DDN.|WW 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1135C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861842	0.91433	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.36482	U	0.002563	D	0.99701	0.9886	H	0.98068	4.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.97426	1.0012	10	0.87932	D	0	.	18.8946	0.92419	0.0:0.0:1.0:0.0	.	216;211;379;379	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	S	379;379;379;379;211;216	ENSP00000405766:P379S;ENSP00000346151:P379S;ENSP00000428389:P379S;ENSP00000441584:P211S;ENSP00000441603:P216S	ENSP00000346151:P379S	P	-	1	0	MAGI2	77813265	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.693000	0.91896	0.655000	0.94253	CCT		0.423	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		79	371	0	0	0	1	0	79	371				
LAMB1	3912	broad.mit.edu	37	7	107569959	107569959	+	Missense_Mutation	SNP	C	C	T	rs201609456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107569959C>T	ENST00000222399.6	-	30	4873	c.4643G>A	c.(4642-4644)cGt>cAt	p.R1548H	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.R1572H	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1548	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AACTCGTTCACGTATATCTTC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		18465	0.0		0.001	False		,,,				2504	0.0					ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4714-4716)cGt>cAt		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						200.0	167.0	179.0					7																	107569959		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107569959C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4643G>A	7.37:g.107569959C>T	ENSP00000222399:p.Arg1548His					LAMB1_ENST00000222399.6_Missense_Mutation_p.R1548H|LAMB1_ENST00000474380.1_5'UTR	p.R1572H			P07942	LAMB1_HUMAN			28	4899	-			1548			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4715G>A	CCDS5750.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.45	3.626031	0.66901	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.78246	-1.16;-1.16	5.42	5.42	0.78866	Prefoldin (1);	.	.	.	.	D	0.86924	0.6050	M	0.64997	1.995	0.80722	D	1	P;D	0.89917	0.603;1.0	B;D	0.77557	0.093;0.99	D	0.85935	0.1454	9	0.48119	T	0.1	.	19.408	0.94656	0.0:1.0:0.0:0.0	.	1548;1572	P07942;G3XAI2	LAMB1_HUMAN;.	H	1572;1548	ENSP00000377191:R1572H;ENSP00000222399:R1548H	ENSP00000222399:R1548H	R	-	2	0	LAMB1	107357195	0.997000	0.39634	0.946000	0.38457	0.987000	0.75469	3.526000	0.53509	2.809000	0.96659	0.650000	0.86243	CGT		0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		80	336	0	0	0	1	0	80	336				
PCED1B	91523	broad.mit.edu	37	12	47629701	47629701	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47629701C>T	ENST00000546455.1	+	4	1586	c.855C>T	c.(853-855)caC>caT	p.H285H	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.H285H			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	285	Pro-rich.						hydrolase activity (GO:0016787)										ACAGAAATCAcccggccttac	0.667																																						ENST00000546455.1																			0											c.(853-855)caC>caT		PC-esterase domain containing 1B							22.0	25.0	24.0					12																	47629701		2200	4286	6486	SO:0001819	synonymous_variant	91523							g.chr12:47629701C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.855C>T	12.37:g.47629701C>T						PCED1B_ENST00000432328.1_Silent_p.H285H	p.H285H							4	1586	+								Q96B20	Silent	SNP	ENST00000546455.1	37	c.855C>T	CCDS8752.1																																																																																				0.667	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		29	116	0	0	0	1	0	29	116				
CHRNB4	1143	broad.mit.edu	37	15	78923439	78923439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78923439G>T	ENST00000261751.3	-	4	449	c.338C>A	c.(337-339)cCt>cAt	p.P113H	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	113					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CACGATGTCAGGCAACCAGAT	0.592																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(337-339)cCt>cAt		cholinergic receptor, nicotinic, beta 4 (neuronal)							122.0	95.0	104.0					15																	78923439		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78923439G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.338C>A	15.37:g.78923439G>T	ENSP00000261751:p.Pro113His					CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H|CHRNB4_ENST00000560511.1_5'UTR	p.P113H	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			4	449	-			113					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.338C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762921	0.89932	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.98567	-5.0;-5.0	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97969	1.0342	10	0.87932	D	0	.	18.6314	0.91361	0.0:0.0:1.0:0.0	.	113;113	E9PHE8;P30926	.;ACHB4_HUMAN	H	113	ENSP00000261751:P113H;ENSP00000416386:P113H	ENSP00000261751:P113H	P	-	2	0	CHRNB4	76710494	1.000000	0.71417	0.993000	0.49108	0.816000	0.46133	9.761000	0.98940	2.405000	0.81733	0.650000	0.86243	CCT		0.592	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			7	359	1	0	0.00448238	1	0.00451339	7	359				
ZNF85	7639	broad.mit.edu	37	19	21132044	21132044	+	Missense_Mutation	SNP	T	T	C	rs557006224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132044T>C	ENST00000328178.8	+	4	837	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P|ZNF85_ENST00000601023.1_Missense_Mutation_p.S183P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	242					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTTAACCAGTCCTCAAACCT	0.358																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(547-549)Tcc>Ccc		zinc finger protein 85							27.0	30.0	29.0					19																	21132044		2185	4280	6465	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132044T>C	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.724T>C	19.37:g.21132044T>C	ENSP00000329793:p.Ser242Pro					ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P|ZNF85_ENST00000328178.8_Missense_Mutation_p.S242P	p.S183P			Q03923	ZNF85_HUMAN			2	1193	+			242					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.547T>C	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	5.177	0.218265	0.09810	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.01084	5.36;5.36	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	L	0.28115	0.83	0.09310	N	1	B;P;B	0.41748	0.016;0.761;0.012	B;B;B	0.29942	0.013;0.109;0.016	T	0.45934	-0.9227	9	0.48119	T	0.1	.	0.2719	0.00232	0.3076:0.2934:0.1852:0.2138	.	209;183;242	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	P	242;209;117	ENSP00000329793:S242P;ENSP00000342340:S209P	ENSP00000329793:S242P	S	+	1	0	ZNF85	20923884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.366000	0.08064	-0.464000	0.05259	TCC		0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		36	196	0	0	0	1	0	36	196				
DNHD1	144132	broad.mit.edu	37	11	6523988	6523988	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6523988A>C	ENST00000527990.2	+	2	752	c.752A>C	c.(751-753)cAg>cCg	p.Q251P	DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P|DNHD1_ENST00000254579.6_Missense_Mutation_p.Q251P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	251					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAGGTCTCAGCTTGACTAT	0.498																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(751-753)cAg>cCg		dynein heavy chain domain 1							81.0	70.0	73.0					11																	6523988		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6523988A>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.752A>C	11.37:g.6523988A>C	ENSP00000436180:p.Gln251Pro					DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P|DNHD1_ENST00000527990.2_Missense_Mutation_p.Q251P	p.Q251P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	1316	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	251					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.752A>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446580	0.25987	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27402	1.67;2.66;1.67	5.63	3.17	0.36434	.	1.037430	0.07577	N	0.919635	T	0.41719	0.1171	M	0.68317	2.08	0.09310	N	1	P;D	0.60160	0.917;0.987	B;P	0.52217	0.446;0.693	T	0.18335	-1.0340	10	0.23891	T	0.37	.	8.0455	0.30547	0.6741:0.0:0.0:0.3259	.	251;251	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	251	ENSP00000254579:Q251P;ENSP00000346716:Q251P;ENSP00000436180:Q251P	ENSP00000254579:Q251P	Q	+	2	0	DNHD1	6480564	0.000000	0.05858	0.016000	0.15963	0.281000	0.26958	-0.175000	0.09825	0.338000	0.23692	0.455000	0.32223	CAG		0.498	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		38	180	0	0	0	1	0	38	180				
GALC	2581	broad.mit.edu	37	14	88411996	88411996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88411996C>T	ENST00000261304.2	-	14	1677	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	GALC_ENST00000393568.4_Missense_Mutation_p.G501D|GALC_ENST00000393569.2_Missense_Mutation_p.G498D|GALC_ENST00000544807.2_Missense_Mutation_p.G468D	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	524					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGATGCTCGCCAGGGTCTTC	0.408																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1570-1572)gGc>gAc		galactosylceramidase							106.0	102.0	103.0					14																	88411996		1850	4093	5943	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88411996C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1571G>A	14.37:g.88411996C>T	ENSP00000261304:p.Gly524Asp					GALC_ENST00000544807.2_Missense_Mutation_p.G468D|GALC_ENST00000393569.2_Missense_Mutation_p.G498D|GALC_ENST00000393568.4_Missense_Mutation_p.G501D	p.G524D	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			14	1677	-			524					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1571G>A	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854964	0.51376	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.51	3.57	0.40892	.	0.102365	0.64402	D	0.000002	D	0.93080	0.7797	M	0.64676	1.99	0.58432	D	0.999999	B;B;B;B	0.23990	0.013;0.044;0.035;0.095	B;B;B;B	0.31245	0.01;0.091;0.032;0.126	D	0.91738	0.5402	10	0.51188	T	0.08	-13.2204	13.2731	0.60172	0.1253:0.7539:0.1208:0.0	.	468;501;498;524	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	D	524;468;498;313;501	ENSP00000261304:G524D;ENSP00000437513:G468D;ENSP00000377199:G498D;ENSP00000377198:G501D	ENSP00000261304:G524D	G	-	2	0	GALC	87481749	1.000000	0.71417	0.884000	0.34674	0.018000	0.09664	5.790000	0.69038	1.444000	0.47605	0.591000	0.81541	GGC		0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			11	520	0	0	0	1	0	11	520				
C16orf86	388284	broad.mit.edu	37	16	67702121	67702121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67702121G>A	ENST00000403458.4	+	4	727	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	191										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGCGCCTGCGGCCGCTGTAC	0.662											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000403458.4																			0				endometrium(2)|lung(4)	6						c.(571-573)cGg>cAg		chromosome 16 open reading frame 86							14.0	15.0	15.0					16																	67702121		2193	4292	6485	SO:0001583	missense	388284							g.chr16:67702121G>A		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.572G>A	16.37:g.67702121G>A	ENSP00000384117:p.Arg191Gln		OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1101		p.R191Q	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	4	727	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	191					B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	c.572G>A	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	G	34	5.328238	0.95733	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.64394	0.2594	L	0.29908	0.895	0.32848	D	0.506291	D	0.89917	1.0	D	0.91635	0.999	T	0.70637	-0.4817	8	0.87932	D	0	-14.3871	18.1519	0.89677	0.0:0.0:1.0:0.0	.	191	Q6ZW13	CP086_HUMAN	Q	191	.	ENSP00000384117:R191Q	R	+	2	0	C16orf86	66259622	0.982000	0.34865	0.998000	0.56505	0.953000	0.61014	4.142000	0.58044	2.826000	0.97356	0.563000	0.77884	CGG		0.662	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		17	67	0	0	0	1	0	17	67				
ZNF671	79891	broad.mit.edu	37	19	58238764	58238764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58238764C>T	ENST00000317398.6	-	1	228	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCCACCCGCGCGGAGTCCGTT	0.682																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(133-135)Gcg>Acg		zinc finger protein 671							21.0	24.0	23.0					19																	58238764		2201	4298	6499	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58238764C>T		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.133G>A	19.37:g.58238764C>T	ENSP00000321848:p.Ala45Thr					ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000599221.1_Intron	p.A45T	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	228	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	45					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.133G>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	3.613	-0.079148	0.07141	.	.	ENSG00000083814	ENST00000317398	T	0.00801	5.68	1.45	-1.0	0.10196	Krueppel-associated box (1);	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.20196	N	0.999923	P	0.45396	0.857	B	0.21360	0.034	T	0.46105	-0.9215	9	0.22109	T	0.4	.	2.0183	0.03503	0.3123:0.4741:0.0:0.2136	.	45	Q8TAW3	ZN671_HUMAN	T	45	ENSP00000321848:A45T	ENSP00000321848:A45T	A	-	1	0	ZNF671	62930576	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.950000	0.29122	-0.217000	0.10033	-0.373000	0.07131	GCG		0.682	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		36	125	0	0	0	1	0	36	125				
PLXNA1	5361	broad.mit.edu	37	3	126736699	126736699	+	Silent	SNP	C	C	T	rs534048902		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126736699C>T	ENST00000393409.2	+	18	3624	c.3624C>T	c.(3622-3624)tgC>tgT	p.C1208C	PLXNA1_ENST00000251772.4_Silent_p.C1185C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1208	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AACTGCTGTGCGAGGCGCCCA	0.657																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3553-3555)tgC>tgT		plexin A1							70.0	64.0	66.0					3																	126736699		2203	4299	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736699C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3624C>T	3.37:g.126736699C>T						PLXNA1_ENST00000393409.2_Silent_p.C1208C	p.C1185C			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	18	3624	+			1208			IPT/TIG 4.			Silent	SNP	ENST00000393409.2	37	c.3555C>T	CCDS33847.2																																																																																				0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		55	312	0	0	0	1	0	55	312				
SLC38A1	81539	broad.mit.edu	37	12	46591706	46591706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46591706G>A	ENST00000398637.5	-	15	1954	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000552197.1_Silent_p.V420V|SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000549049.1_Silent_p.V420V	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	420					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATACCTACGACTCCAAAAA	0.373																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(1258-1260)gtC>gtT		solute carrier family 38, member 1							97.0	89.0	92.0					12																	46591706		1889	4124	6013	SO:0001819	synonymous_variant	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46591706G>A	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1260C>T	12.37:g.46591706G>A						SLC38A1_ENST00000552197.1_Silent_p.V420V|SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000549049.1_Silent_p.V420V	p.V420V	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		15	1954	-	Lung SC(27;0.137)|Renal(347;0.236)		420					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	37	c.1260C>T	CCDS41774.1																																																																																				0.373	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			60	215	0	0	0	1	0	60	215				
MMRN1	22915	broad.mit.edu	37	4	90874186	90874186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90874186G>A	ENST00000394980.1	+	9	3623	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T|MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T			Q13201	MMRN1_HUMAN	multimerin 1	1102	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACCCATGGTGGCATTTTTTGC	0.348																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3304-3306)Gca>Aca		multimerin 1							105.0	109.0	108.0					4																	90874186		2203	4299	6502	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874186G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3304G>A	4.37:g.90874186G>A	ENSP00000378431:p.Ala1102Thr					MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T|MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T	p.A1102T			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	9	3623	+		Hepatocellular(203;0.114)	1102			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3304G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347667	0.82022	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.73	4.73	0.59995	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.178274	0.39083	N	0.001472	D	0.91895	0.7434	M	0.73598	2.24	0.34893	D	0.745759	D;D	0.89917	0.996;1.0	D;D	0.91635	0.974;0.999	D	0.94910	0.8064	10	0.72032	D	0.01	.	16.7536	0.85493	0.0:0.0:1.0:0.0	.	405;1102	Q13201-2;Q13201	.;MMRN1_HUMAN	T	1102;1102;405;844	ENSP00000378431:A1102T;ENSP00000264790:A1102T;ENSP00000378432:A405T;ENSP00000426461:A844T	ENSP00000264790:A1102T	A	+	1	0	MMRN1	91093209	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.628000	0.61282	2.569000	0.86673	0.484000	0.47621	GCA		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		98	459	0	0	0	1	0	98	459				
IRX2	153572	broad.mit.edu	37	5	2747723	2747723	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2747723G>A	ENST00000382611.6	-	4	1619	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	IRX2_ENST00000302057.5_Silent_p.S457S|IRX2_ENST00000502957.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	457					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCCCTCGCTGGCATCTG	0.642																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(1369-1371)agC>agT		iroquois homeobox 2							43.0	40.0	41.0					5																	2747723		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2747723G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1371C>T	5.37:g.2747723G>A						IRX2_ENST00000302057.5_Silent_p.S457S	p.S457S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	4	1619	-			457					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.1371C>T	CCDS3868.1																																																																																				0.642	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			65	179	0	0	0	1	0	65	179				
SIPA1	6494	broad.mit.edu	37	11	65416912	65416912	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416912C>A	ENST00000394224.3	+	10	2782	c.2486C>A	c.(2485-2487)aCt>aAt	p.T829N	SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	829					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGGAGAGGACTGAGTTCCTG	0.632																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2485-2487)aCt>aAt		signal-induced proliferation-associated 1							48.0	42.0	44.0					11																	65416912		2199	4292	6491	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65416912C>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2486C>A	11.37:g.65416912C>A	ENSP00000377771:p.Thr829Asn					SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N|SIPA1_ENST00000527525.1_Missense_Mutation_p.T727N	p.T829N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			10	2782	+			829					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2486C>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155263	0.38021	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82893	-1.66;-1.65;-1.66;-1.65	4.63	4.63	0.57726	.	0.420510	0.18841	U	0.129695	D	0.84745	0.5540	L	0.32530	0.975	0.25394	N	0.988508	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.987	T	0.74867	-0.3518	10	0.19590	T	0.45	-14.4206	13.3654	0.60680	0.0:1.0:0.0:0.0	.	727;829	F6RY50;Q96FS4	.;SIPA1_HUMAN	N	829;727;829;727	ENSP00000436269:T829N;ENSP00000433686:T727N;ENSP00000377771:T829N;ENSP00000377774:T727N	ENSP00000377771:T829N	T	+	2	0	SIPA1	65173488	0.994000	0.37717	0.932000	0.37286	0.428000	0.31595	4.182000	0.58310	2.283000	0.76528	0.462000	0.41574	ACT		0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		16	68	1	0	1.5739e-10	1	1.67034e-10	16	68				
NSFL1C	55968	broad.mit.edu	37	20	1438856	1438856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1438856C>T	ENST00000216879.4	-	3	1134	c.267G>A	c.(265-267)gaG>gaA	p.E89E	NSFL1C_ENST00000381658.4_Missense_Mutation_p.R10K|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000476071.1_Silent_p.E89E|NSFL1C_ENST00000461211.1_5'Flank|NSFL1C_ENST00000353088.2_Silent_p.E89E	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	89	Poly-Glu.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGGCCTTCCTCTTCCTCCT	0.483																																						ENST00000381658.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(28-30)aGg>aAg		NSFL1 (p97) cofactor (p47)							148.0	126.0	133.0					20																	1438856		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1438856C>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.267G>A	20.37:g.1438856C>T						NSFL1C_ENST00000353088.2_Silent_p.E89E|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000216879.4_Silent_p.E89E|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Silent_p.E89E	p.R10K			Q9UNZ2	NSF1C_HUMAN			2	1116	-			0					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.29G>A	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004086	0.54254	.	.	ENSG00000088833	ENST00000381658	T	0.41400	1.0	5.16	-4.07	0.03975	.	.	.	.	.	T	0.27697	0.0681	.	.	.	0.21020	N	0.9998	B	0.02656	0.0	B	0.04013	0.001	T	0.21143	-1.0254	8	0.31617	T	0.26	-8.9849	13.2385	0.59983	0.0:0.3723:0.0:0.6277	.	10	Q9UNZ2-6	.	K	10	ENSP00000371074:R10K	ENSP00000371074:R10K	R	-	2	0	NSFL1C	1386856	0.174000	0.23070	0.729000	0.30791	0.934000	0.57294	-0.711000	0.05019	-0.684000	0.05183	0.655000	0.94253	AGG		0.483	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		78	390	0	0	0	1	0	78	390				
GNA15	2769	broad.mit.edu	37	19	3162989	3162989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3162989G>A	ENST00000262958.3	+	7	1355	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	366					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTGCTCGCCCGCTACCTGGAC	0.667											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1096-1098)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							80.0	68.0	72.0					19																	3162989		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3162989G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.1097G>A	19.37:g.3162989G>A	ENSP00000262958:p.Arg366His		OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609		p.R366H	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	7	1355	+		Hepatocellular(1079;0.137)	366					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.1097G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.119165	0.77323	.	.	ENSG00000060558	ENST00000262958	D	0.82619	-1.63	3.9	3.9	0.45041	.	0.111669	0.37669	N	0.001982	T	0.69287	0.3094	N	0.21373	0.66	0.37205	D	0.904568	B	0.19073	0.033	B	0.18561	0.022	T	0.68070	-0.5506	10	0.39692	T	0.17	.	7.2896	0.26358	0.1199:0.0:0.8801:0.0	.	366	P30679	GNA15_HUMAN	H	366	ENSP00000262958:R366H	ENSP00000262958:R366H	R	+	2	0	GNA15	3113989	0.799000	0.28903	1.000000	0.80357	0.972000	0.66771	2.783000	0.47766	2.001000	0.58596	0.491000	0.48974	CGC		0.667	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		6	242	0	0	0	1	0	6	242				
CACNA2D2	9254	broad.mit.edu	37	3	50413104	50413104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50413104G>A	ENST00000479441.1	-	21	1877	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	CACNA2D2_ENST00000435965.1_Silent_p.T626T|CACNA2D2_ENST00000424201.2_Silent_p.T626T|CACNA2D2_ENST00000429770.1_Silent_p.T626T|CACNA2D2_ENST00000360963.3_Silent_p.T557T|CACNA2D2_ENST00000266039.3_Silent_p.T626T|CACNA2D2_ENST00000395083.1_Silent_p.T626T|CACNA2D2_ENST00000423994.2_Silent_p.T626T			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	626					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TAGGCACCCAGGTGTAGTTCC	0.622																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(1876-1878)acC>acT		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						102.0	93.0	96.0					3																	50413104		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50413104G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1878C>T	3.37:g.50413104G>A						CACNA2D2_ENST00000424201.2_Silent_p.T626T|CACNA2D2_ENST00000423994.2_Silent_p.T626T|CACNA2D2_ENST00000479441.1_Silent_p.T626T|CACNA2D2_ENST00000429770.1_Silent_p.T626T|CACNA2D2_ENST00000360963.3_Silent_p.T557T|CACNA2D2_ENST00000266039.3_Silent_p.T626T|CACNA2D2_ENST00000395083.1_Silent_p.T626T	p.T626T			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	21	2051	-			626					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.1878C>T	CCDS54588.1																																																																																				0.622	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		66	319	0	0	0	1	0	66	319				
DSC3	1825	broad.mit.edu	37	18	28605830	28605830	+	Missense_Mutation	SNP	G	G	A	rs137869359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28605830G>A	ENST00000360428.4	-	5	606	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	DSC3_ENST00000434452.1_Missense_Mutation_p.R176C	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	176	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCAACTCCACGTCCACTTATT	0.313																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(526-528)Cgt>Tgt		desmocollin 3		G	CYS/ARG,CYS/ARG	3,4401	6.2+/-15.9	0,3,2199	55.0	56.0	56.0		526,526	4.9	1.0	18	dbSNP_134	56	0,8600		0,0,4300	yes	missense,missense	DSC3	NM_001941.3,NM_024423.2	180,180	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging	176/897,176/840	28605830	3,13001	2202	4300	6502	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28605830G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.526C>T	18.37:g.28605830G>A	ENSP00000353608:p.Arg176Cys					DSC3_ENST00000360428.4_Missense_Mutation_p.R176C	p.R176C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		5	680	-			176			Cadherin 1.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.526C>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290692	0.80914	6.81E-4	0.0	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.61274	0.12;0.12	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.000000	0.33382	N	0.004974	T	0.63177	0.2489	L	0.27053	0.805	0.52099	D	0.999944	D;D	0.71674	0.997;0.998	P;P	0.61658	0.892;0.827	T	0.67473	-0.5662	10	0.87932	D	0	.	17.4558	0.87607	0.0:0.0:1.0:0.0	.	176;176	Q14574;Q14574-2	DSC3_HUMAN;.	C	176	ENSP00000353608:R176C;ENSP00000392068:R176C	ENSP00000353608:R176C	R	-	1	0	DSC3	26859828	1.000000	0.71417	0.976000	0.42696	0.819000	0.46315	5.544000	0.67231	2.706000	0.92434	0.655000	0.94253	CGT		0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		27	131	0	0	0	1	0	27	131				
SPARCL1	8404	broad.mit.edu	37	4	88400699	88400699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88400699G>A	ENST00000282470.6	-	10	2319	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SPARCL1_ENST00000503414.1_Nonsense_Mutation_p.R492*|SPARCL1_ENST00000418378.1_Nonsense_Mutation_p.R617*	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	617					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGAGATGCTCGCAGAGGAGCA	0.478																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1849-1851)Cga>Tga		SPARC-like 1 (hevin)							110.0	102.0	105.0					4																	88400699		2203	4300	6503	SO:0001587	stop_gained	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88400699G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1849C>T	4.37:g.88400699G>A	ENSP00000282470:p.Arg617*					SPARCL1_ENST00000503414.1_Nonsense_Mutation_p.R492*|SPARCL1_ENST00000282470.6_Nonsense_Mutation_p.R617*	p.R617*	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	11	2420	-			617					B4E2Z0|E7ESU2|Q14800	Nonsense_Mutation	SNP	ENST00000282470.6	37	c.1849C>T	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	42	9.575148	0.99208	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	.	.	.	5.11	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0128	12.4782	0.55827	0.0:0.0:0.5959:0.4041	.	.	.	.	X	617;617;492;492	.	ENSP00000282470:R617X	R	-	1	2	SPARCL1	88619723	0.809000	0.29036	1.000000	0.80357	0.973000	0.67179	1.043000	0.30316	1.417000	0.47077	0.655000	0.94253	CGA		0.478	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			78	326	0	0	0	1	0	78	326				
ZNF697	90874	broad.mit.edu	37	1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T	rs373089415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120165879C>T	ENST00000421812.2	-	3	1206	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.746																																						ENST00000421812.2																			0				ovary(2)	2						c.(1087-1089)Gtg>Atg		zinc finger protein 697		C	MET/VAL	0,4336		0,0,2168	8.0	8.0	8.0		1087	2.6	1.0	1		8	1,8495		0,1,4247	no	missense	ZNF697	NM_001080470.1	21	0,1,6415	TT,TC,CC		0.0118,0.0,0.0078	benign	363/546	120165879	1,12831	2168	4248	6416	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165879C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1087G>A	1.37:g.120165879C>T	ENSP00000396857:p.Val363Met						p.V363M	NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1206	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	363					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1087G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	1.888	-0.456263	0.04540	0.0	1.18E-4	ENSG00000143067	ENST00000421812	T	0.35605	1.3	4.51	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	L	0.41124	1.26	0.24537	N	0.994083	B	0.29253	0.239	B	0.14023	0.01	T	0.14476	-1.0471	9	0.44086	T	0.13	.	4.7023	0.12832	0.1763:0.6254:0.0:0.1983	.	363	Q5TEC3	ZN697_HUMAN	M	363	ENSP00000396857:V363M	ENSP00000396857:V363M	V	-	1	0	ZNF697	119967402	0.000000	0.05858	1.000000	0.80357	0.004000	0.04260	-0.526000	0.06207	1.039000	0.40074	-0.251000	0.11542	GTG		0.746	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		9	32	0	0	0	1	0	9	32				
GPR98	84059	broad.mit.edu	37	5	90050900	90050900	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90050900C>T	ENST00000405460.2	+	55	11574	c.11478C>T	c.(11476-11478)gtC>gtT	p.V3826V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3826	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGCATGTCGATAATCAAG	0.358																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(11476-11478)gtC>gtT		G protein-coupled receptor 98							129.0	123.0	125.0					5																	90050900		1867	4094	5961	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90050900C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11478C>T	5.37:g.90050900C>T							p.V3826V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	55	11574	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3826					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.11478C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	7.271	0.607155	0.14002	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.73	1.34	0.21922	.	.	.	.	.	T	0.26774	0.0655	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	5.645	0.17584	0.2541:0.5424:0.0:0.2035	.	.	.	.	L	1392	.	.	S	+	2	0	GPR98	90086656	0.000000	0.05858	0.034000	0.17996	0.978000	0.69477	0.191000	0.17076	0.334000	0.23590	0.655000	0.94253	TCG		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		85	319	0	0	0	1	0	85	319				
BOD1L1	259282	broad.mit.edu	37	4	13601726	13601726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13601726G>A	ENST00000040738.5	-	10	6933	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2266						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGACACTGGGCCCTCACAGT	0.542																																						ENST00000040738.5																			0											c.(6796-6798)ggC>ggT		biorientation of chromosomes in cell division 1-like 1							76.0	67.0	70.0					4																	13601726		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601726G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6798C>T	4.37:g.13601726G>A							p.G2266G	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6933	-			2266					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.6798C>T	CCDS3411.2																																																																																				0.542	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		31	113	0	0	0	1	0	31	113				
CTLA4	1493	broad.mit.edu	37	2	204737463	204737463	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204737463C>A	ENST00000302823.3	+	4	757	c.600C>A	c.(598-600)gtC>gtA	p.V200V	CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I|CTLA4_ENST00000427473.2_Missense_Mutation_p.L127I	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	200					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CAACAGGGGTCTATGTGAAAA	0.378																																						ENST00000427473.2																			0				large_intestine(4)|lung(4)|skin(1)	9						c.(379-381)Cta>Ata		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						94.0	95.0	95.0					2																	204737463		2203	4300	6503	SO:0001819	synonymous_variant	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204737463C>A		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.600C>A	2.37:g.204737463C>A						CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I|CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000302823.3_Silent_p.V200V|CTLA4_ENST00000487393.1_3'UTR	p.L127I			P16410	CTLA4_HUMAN			3	524	+			0			Ig-like V-type.		A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	c.379C>A	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062914	0.55432	.	.	ENSG00000163599	ENST00000295854;ENST00000472206;ENST00000427473	T;T	0.50277	0.75;1.48	5.72	4.82	0.62117	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.25026	N	0.991305	P	0.41041	0.736	B	0.38500	0.275	T	0.37384	-0.9708	8	0.87932	D	0	0.2161	13.2854	0.60241	0.1584:0.8416:0.0:0.0	.	69	P16410-4	.	I	164;69;127	ENSP00000295854:L164I;ENSP00000417779:L69I	ENSP00000295854:L164I	L	+	1	2	CTLA4	204445708	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.129000	0.42055	1.354000	0.45846	0.561000	0.74099	CTA		0.378	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		32	339	1	0	3.93418e-24	1	4.48831e-24	32	339				
SLCO1B7	338821	broad.mit.edu	37	12	21200112	21200112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21200112C>T	ENST00000421593.2	+	7	955	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.Q366*|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Nonsense_Mutation_p.Q366*|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGTGGAGCAACAGTATGGTTG	0.333																																						ENST00000381541.3																			0											c.(1096-1098)Cag>Tag									116.0	119.0	118.0					12																	21200112		2139	4276	6415	SO:0001587	stop_gained	0							g.chr12:21200112C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.955C>T	12.37:g.21200112C>T	ENSP00000394168:p.Gln319*					LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Nonsense_Mutation_p.Q319*|SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.Q366*|SLCO1B3_ENST00000553473.1_Intron	p.Q366*							8	1161	+								Q71QF0	Nonsense_Mutation	SNP	ENST00000421593.2	37	c.1096C>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	36	5.733400	0.96865	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	.	.	.	3.21	2.2	0.27929	.	0.587759	0.16949	N	0.192977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.7835	0.40662	0.0:0.7875:0.2125:0.0	.	.	.	.	X	366;366;319	.	ENSP00000370952:Q366X	Q	+	1	0	SLCO1B7;RP11-545J16.1	21091379	0.999000	0.42202	0.083000	0.20561	0.009000	0.06853	2.691000	0.47010	1.769000	0.52152	0.460000	0.39030	CAG		0.333	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		15	85	0	0	0	1	0	15	85				
IL31RA	133396	broad.mit.edu	37	5	55203234	55203234	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55203234T>G	ENST00000447346.2	+	10	1365	c.1300T>G	c.(1300-1302)Ttg>Gtg	p.L434V	IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V|IL31RA_ENST00000396834.1_Missense_Mutation_p.L415V|IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	402	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTATCCAATGTTGCATGACAA	0.438																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1243-1245)Ttg>Gtg		interleukin 31 receptor A							116.0	103.0	107.0					5																	55203234		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55203234T>G	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1300T>G	5.37:g.55203234T>G	ENSP00000415900:p.Leu434Val					IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000447346.2_Missense_Mutation_p.L434V|IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V|IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V	p.L415V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			12	1739	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	402			Fibronectin type-III 4.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.1243T>G	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	T	6.949	0.545020	0.13312	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.78	0.436	0.16549	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.773311	0.12435	N	0.469226	T	0.36110	0.0955	M	0.68317	2.08	0.09310	N	1	B;B;B;B;B	0.29988	0.068;0.112;0.112;0.112;0.264	B;B;B;B;B	0.24701	0.014;0.032;0.032;0.032;0.055	T	0.25502	-1.0130	10	0.31617	T	0.26	-20.9055	1.2853	0.02049	0.3049:0.0871:0.158:0.45	.	402;434;415;434;434	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	V	434;415;434;434;292;292;415	ENSP00000380048:L434V;ENSP00000380046:L415V;ENSP00000415900:L434V;ENSP00000351935:L434V;ENSP00000297015:L292V;ENSP00000427533:L292V;ENSP00000347047:L415V	ENSP00000297015:L292V	L	+	1	2	IL31RA	55238991	0.000000	0.05858	0.008000	0.14137	0.430000	0.31655	-0.124000	0.10595	0.504000	0.28082	0.533000	0.62120	TTG		0.438	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		10	250	0	0	0	1	0	10	250				
ATP9A	10079	broad.mit.edu	37	20	50310575	50310575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50310575G>A	ENST00000338821.5	-	7	878	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	205					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGCGTGCAGGCCACGGGAAG	0.627																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(613-615)gCc>gTc		ATPase, class II, type 9A							48.0	49.0	49.0					20																	50310575		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50310575G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.614C>T	20.37:g.50310575G>A	ENSP00000342481:p.Ala205Val					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.A205V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			7	878	-			205					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.614C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305346	0.60305	.	.	ENSG00000054793	ENST00000338821	D	0.90955	-2.76	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);	0.049853	0.85682	D	0.000000	D	0.83954	0.5366	N	0.11845	0.185	0.80722	D	1	B	0.20459	0.045	B	0.29176	0.099	T	0.81035	-0.1115	10	0.52906	T	0.07	-37.016	15.3011	0.73952	0.0:0.217:0.783:0.0	.	205	O75110	ATP9A_HUMAN	V	205	ENSP00000342481:A205V	ENSP00000342481:A205V	A	-	2	0	ATP9A	49743982	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.348000	0.73009	2.329000	0.79093	0.655000	0.94253	GCC		0.627	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		106	439	0	0	0	1	0	106	439				
BRD3	8019	broad.mit.edu	37	9	136901300	136901300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136901300T>C	ENST00000303407.7	-	10	1975	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	597	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTGGATGATGTGCACTACCCG	0.587			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1789-1791)cAc>cGc		bromodomain containing 3							80.0	77.0	78.0					9																	136901300		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136901300T>C		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1790A>G	9.37:g.136901300T>C	ENSP00000305918:p.His597Arg					BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	p.H597R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	10	1975	-			597					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1790A>G	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771699	0.69992	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.15372	2.43	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.21921	0.0528	L	0.59967	1.855	0.80722	D	1	B	0.25441	0.126	B	0.31101	0.124	T	0.02398	-1.1165	10	0.46703	T	0.11	-18.4594	14.1802	0.65568	0.0:0.0:0.0:1.0	.	597	Q15059	BRD3_HUMAN	R	597;276	ENSP00000305918:H597R	ENSP00000305918:H597R	H	-	2	0	BRD3	135891121	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.055000	0.71103	1.946000	0.56461	0.402000	0.26972	CAC		0.587	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		66	343	0	0	0	1	0	66	343				
ETV1	2115	broad.mit.edu	37	7	13946113	13946113	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:13946113G>A	ENST00000430479.1	-	12	1719	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	ETV1_ENST00000343495.5_Missense_Mutation_p.S333F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000405358.4_Missense_Mutation_p.S365F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	351					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATAAAATGAGAATTTGAAGG	0.433			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(997-999)tCt>tTt		ets variant 1							61.0	62.0	61.0					7																	13946113		1884	4125	6009	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13946113G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1052C>T	7.37:g.13946113G>A	ENSP00000405327:p.Ser351Phe					ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000405358.4_Missense_Mutation_p.S365F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000430479.1_Missense_Mutation_p.S351F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F	p.S333F			P50549	ETV1_HUMAN			11	1736	-			351					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.998C>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778141	0.90195	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.9	5.9	0.94986	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.993;0.999;0.998;0.998;0.998;0.997	D;P;D;D;D;D;D	0.83275	0.989;0.905;0.972;0.992;0.993;0.996;0.961	T	0.75950	-0.3137	10	0.87932	D	0	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	339;333;365;293;248;311;351	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	F	351;333;333;293;248;328;365;311;351;333	ENSP00000405327:S351F;ENSP00000242066:S333F;ENSP00000340853:S333F;ENSP00000411626:S293F;ENSP00000382293:S248F;ENSP00000385381:S328F;ENSP00000384085:S365F;ENSP00000384138:S311F;ENSP00000385551:S351F;ENSP00000385686:S333F	ENSP00000242066:S333F	S	-	2	0	ETV1	13912638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.550000	0.73905	2.793000	0.96121	0.591000	0.81541	TCT		0.433	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		16	65	0	0	0	1	0	16	65				
UBXN1	51035	broad.mit.edu	37	11	62444433	62444433	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62444433G>A	ENST00000301935.5	-	8	862	c.696C>T	c.(694-696)gcC>gcT	p.A232A	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Silent_p.A232A|UBXN1_ENST00000529640.1_Silent_p.A228A			Q04323	UBXN1_HUMAN	UBX domain protein 1	232	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GCTGTTCCCGGGCCCGGAACG	0.597																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(694-696)gcC>gcT		UBX domain protein 1							59.0	62.0	61.0					11																	62444433		2202	4299	6501	SO:0001819	synonymous_variant	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444433G>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.696C>T	11.37:g.62444433G>A						UBXN1_ENST00000529640.1_Silent_p.A228A|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000301935.5_Silent_p.A232A	p.A232A	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			8	827	-			232			Interaction with BRCA1.|UBX.		Q9BV93|Q9BVV5	Silent	SNP	ENST00000301935.5	37	c.696C>T																																																																																					0.597	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		51	493	0	0	0	1	0	51	493				
TRPM4	54795	broad.mit.edu	37	19	49703979	49703979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49703979C>T	ENST00000252826.5	+	19	3016	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	964					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AAGTATCCTGCGCCGCGTCTT	0.617																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2890-2892)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 4							64.0	58.0	60.0					19																	49703979		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49703979C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2890C>T	19.37:g.49703979C>T	ENSP00000252826:p.Arg964Cys					TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C	p.R964C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	19	3016	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	964					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2890C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590570	0.66219	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.73469	-0.75;-0.75;-0.75	4.57	3.46	0.39613	.	0.123452	0.56097	D	0.000034	D	0.87509	0.6195	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.90009	0.4120	10	0.87932	D	0	-24.2806	13.4979	0.61436	0.1561:0.8439:0.0:0.0	.	610;790;819;964	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	964;819;610	ENSP00000252826:R964C;ENSP00000407492:R819C;ENSP00000347944:R610C	ENSP00000252826:R964C	R	+	1	0	TRPM4	54395791	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	3.521000	0.53472	2.271000	0.75665	0.313000	0.20887	CGC		0.617	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		48	280	0	0	0	1	0	48	280				
DDX10	1662	broad.mit.edu	37	11	108593877	108593877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108593877C>A	ENST00000322536.3	+	13	1782	c.1653C>A	c.(1651-1653)taC>taA	p.Y551*	DDX10_ENST00000526794.1_Nonsense_Mutation_p.Y551*	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	551					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTAGAGCCTACTTCAATGAGA	0.438			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1651-1653)taC>taA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							64.0	64.0	64.0					11																	108593877		2201	4298	6499	SO:0001587	stop_gained	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108593877C>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1653C>A	11.37:g.108593877C>A	ENSP00000314348:p.Tyr551*					DDX10_ENST00000322536.3_Nonsense_Mutation_p.Y551*	p.Y551*			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	13	1685	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	551					B2RCQ3|Q5BJD8	Nonsense_Mutation	SNP	ENST00000322536.3	37	c.1653C>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	C	37	5.993494	0.97184	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	.	.	.	4.9	-1.34	0.09143	.	0.632853	0.16915	N	0.194340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-3.0433	5.9796	0.19399	0.0:0.4737:0.1559:0.3705	.	.	.	.	X	551;457;551	.	ENSP00000314348:Y551X	Y	+	3	2	DDX10	108099087	0.936000	0.31750	0.987000	0.45799	0.852000	0.48524	0.575000	0.23729	-0.070000	0.12908	0.484000	0.47621	TAC		0.438	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		39	175	1	0	5.71845e-15	1	6.23116e-15	39	175				
PRR14L	253143	broad.mit.edu	37	22	32072826	32072826	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32072826C>A	ENST00000397493.2	-	9	6550	c.6358G>T	c.(6358-6360)Gtc>Ttc	p.V2120F				Q5THK1	PR14L_HUMAN	proline rich 14-like	0										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CAGCAAAGGACTAGCAGCCTC	0.652																																						ENST00000397493.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						c.(6358-6360)Gtc>Ttc		proline rich 14-like							18.0	15.0	16.0					22																	32072826		2202	4297	6499	SO:0001583	missense	253143							g.chr22:32072826C>A	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000397493.2:c.6358G>T	22.37:g.32072826C>A	ENSP00000380630:p.Val2120Phe						p.V2120F			Q5THK1	PR14L_HUMAN			9	6550	-			0					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000397493.2	37	c.6358G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.251|4.251	0.045543|0.045543	0.08196|0.08196	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000330495|ENST00000397493	.|T	.|0.06933	.|3.24	0.552|0.552	0.552|0.552	0.17230|0.17230	.|.	.|.	.|.	.|.	.|.	T|T	0.12390|0.12390	0.0301|0.0301	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999983|0.999983	.|P	.|0.47106	.|0.89	.|P	.|0.49332	.|0.607	T|T	0.17077|0.17077	-1.0381|-1.0381	3|7	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|2120	.|Q5THK1-4	.|.	I|F	422|2120	.|ENSP00000380630:V2120F	.|ENSP00000380630:V2120F	S|V	-|-	2|1	0|0	PRR14L|PRR14L	30402826|30402826	.|.	.|.	0.010000|0.010000	0.14722|0.14722	0.047000|0.047000	0.14425|0.14425	.|.	.|.	0.571000|0.571000	0.29365|0.29365	0.393000|0.393000	0.25936|0.25936	AGT|GTC		0.652	PRR14L-201	KNOWN	basic	protein_coding	protein_coding		NM_173566		11	66	1	0	5.50884e-06	1	5.65664e-06	11	66				
NIN	51199	broad.mit.edu	37	14	51223934	51223934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51223934G>A	ENST00000382041.3	-	18	4004	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	NIN_ENST00000245441.5_Missense_Mutation_p.R1272C|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C|NIN_ENST00000530997.2_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.R1272C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1272					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCATCGTAGCGTGTCTCCATC	0.443			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3814-3816)Cgc>Tgc		ninein (GSK3B interacting protein)							173.0	175.0	175.0					14																	51223934		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51223934G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3814C>T	14.37:g.51223934G>A	ENSP00000371472:p.Arg1272Cys					NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.R1272C|NIN_ENST00000382041.3_Missense_Mutation_p.R1272C|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C	p.R1272C	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	4004	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1272					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.3814C>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.057|6.057	0.378912|0.378912	0.11466|0.11466	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|T;T	0.09538|0.14893	3.24;2.97;2.97;2.97|2.47;2.48	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.445379|.	0.23993|.	N|.	0.042559|.	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.19817|.	0.039;0.022;0.038;0.017|.	B;B;B;B|.	0.14578|.	0.007;0.007;0.007;0.011|.	T|T	0.13710|0.13710	-1.0499|-1.0499	10|7	0.54805|0.45353	T|T	0.06|0.12	-3.2342|-3.2342	12.9848|12.9848	0.58586|0.58586	0.0:0.0:0.8387:0.1613|0.0:0.0:0.8387:0.1613	.|.	1278;1272;1272;1272|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	C|M	1272;1255;1278;1272;1272;1272|762	ENSP00000245441:R1272C;ENSP00000371472:R1272C;ENSP00000324210:R1272C;ENSP00000412391:R1272C|ENSP00000374519:T762M;ENSP00000433717:T762M	ENSP00000245441:R1272C|ENSP00000374519:T762M	R|T	-|-	1|2	0|0	NIN|NIN	50293684|50293684	0.009000|0.009000	0.17119|0.17119	0.305000|0.305000	0.25099|0.25099	0.015000|0.015000	0.08874|0.08874	1.696000|1.696000	0.37773|0.37773	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.443	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		186	689	0	0	0	1	0	186	689				
THBD	7056	broad.mit.edu	37	20	23028870	23028870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028870G>T	ENST00000377103.2	-	1	1508	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	424	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GGCACTCACAGCTAGCCTGGG	0.627																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(1270-1272)agC>agA		thrombomodulin	Drotrecogin alfa(DB00055)						62.0	57.0	59.0					20																	23028870		2203	4300	6503	SO:0001583	missense	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23028870G>T		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1272C>A	20.37:g.23028870G>T	ENSP00000366307:p.Ser424Arg						p.S424R	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1508	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		424			EGF-like 5.		Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	c.1272C>A	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734723	0.03111	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80033	-1.33	4.82	0.818	0.18778	Epidermal growth factor-like (1);Thrombomodulin-like, EGF-like (1);	3.352840	0.01083	N	0.005028	T	0.67887	0.2941	L	0.40543	1.245	0.09310	N	0.999991	B	0.33755	0.424	B	0.23018	0.043	T	0.49753	-0.8906	10	0.13470	T	0.59	1.1772	4.183	0.10385	0.313:0.0:0.531:0.156	.	424	P07204	TRBM_HUMAN	R	424;406	ENSP00000366307:S424R	ENSP00000366307:S424R	S	-	3	2	THBD	22976870	0.015000	0.18098	0.003000	0.11579	0.004000	0.04260	0.108000	0.15396	-0.124000	0.11724	0.561000	0.74099	AGC		0.627	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			63	375	1	0	2.2129e-31	1	2.60483e-31	63	375				
CHD4	1108	broad.mit.edu	37	12	6707221	6707221	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6707221C>T	ENST00000357008.2	-	12	1894	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	CHD4_ENST00000309577.6_Silent_p.K577K|CHD4_ENST00000544040.1_Silent_p.K570K|CHD4_ENST00000544484.1_Silent_p.K574K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	577	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCATATCATTCTTCCGCTGAT	0.473																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(1729-1731)aaG>aaA		chromodomain helicase DNA binding protein 4							155.0	156.0	155.0					12																	6707221		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6707221C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1731G>A	12.37:g.6707221C>T						CHD4_ENST00000544040.1_Silent_p.K570K|CHD4_ENST00000357008.2_Silent_p.K577K|CHD4_ENST00000544484.1_Silent_p.K574K	p.K577K			Q14839	CHD4_HUMAN			12	1894	-			577			Chromo 1.		Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.1731G>A	CCDS8552.1																																																																																				0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		184	733	0	0	0	1	0	184	733				
ZC3H11A	9877	broad.mit.edu	37	1	203817479	203817479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203817479C>A	ENST00000545588.1	+	13	5394	c.1567C>A	c.(1567-1569)Ctt>Att	p.L523I	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L523I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	523					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGAAGAACCTTCAGGAAGG	0.303																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1567-1569)Ctt>Att		zinc finger CCCH-type containing 11A							125.0	126.0	126.0					1																	203817479		2203	4298	6501	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203817479C>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1567C>A	1.37:g.203817479C>A	ENSP00000438527:p.Leu523Ile					ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L523I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I	p.L523I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		13	5394	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		523					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.1567C>A	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083034	0.36758	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.65	2.73	0.32206	.	0.188080	0.32918	N	0.005483	T	0.41143	0.1146	M	0.65975	2.015	0.28449	N	0.916402	P	0.36959	0.575	B	0.35607	0.206	T	0.31392	-0.9945	10	0.37606	T	0.19	-16.4057	6.7541	0.23503	0.0:0.6956:0.1442:0.1602	.	523	O75152	ZC11A_HUMAN	I	523;469;523;523;523;523	ENSP00000356183:L523I;ENSP00000356181:L523I;ENSP00000333253:L523I;ENSP00000438527:L523I;ENSP00000356179:L523I	ENSP00000333253:L523I	L	+	1	0	ZC3H11A	202084102	0.293000	0.24371	0.946000	0.38457	0.973000	0.67179	0.819000	0.27308	0.398000	0.25338	-0.143000	0.13931	CTT		0.303	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		8	426	1	0	0.00621372	1	0.0062537	8	426				
CCDC141	285025	broad.mit.edu	37	2	179720079	179720079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179720079C>T	ENST00000420890.2	-	19	3172	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1019										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATACCTCTTCTATCACCTCC	0.353																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3055-3057)Gaa>Aaa		coiled-coil domain containing 141							104.0	94.0	97.0					2																	179720079		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179720079C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3055G>A	2.37:g.179720079C>T	ENSP00000395995:p.Glu1019Lys					CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	p.E1019K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		19	3172	-			444					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.3055G>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.470620	0.84533	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.36520	1.25;1.25;1.25	5.09	5.09	0.68999	.	0.000000	0.52532	D	0.000061	T	0.44414	0.1292	L	0.34521	1.04	0.35372	D	0.789158	D	0.65815	0.995	P	0.60173	0.87	T	0.52487	-0.8569	10	0.42905	T	0.14	-26.2853	14.1615	0.65450	0.0:0.9256:0.0:0.0744	.	444	Q6ZP82	CC141_HUMAN	K	1019;463;444	ENSP00000395995:E1019K;ENSP00000344627:E463K;ENSP00000295723:E444K	ENSP00000295723:E444K	E	-	1	0	CCDC141	179428324	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	3.896000	0.56266	2.518000	0.84900	0.655000	0.94253	GAA		0.353	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		39	315	0	0	0	1	0	39	315				
KIAA1109	84162	broad.mit.edu	37	4	123249281	123249281	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123249281A>G	ENST00000264501.4	+	66	11391	c.11018A>G	c.(11017-11019)gAc>gGc	p.D3673G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G			Q2LD37	K1109_HUMAN	KIAA1109	3673					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAGAACTGGACCTTTTGTCA	0.318																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(11017-11019)gAc>gGc		KIAA1109							54.0	51.0	52.0					4																	123249281		1835	4079	5914	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123249281A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11018A>G	4.37:g.123249281A>G	ENSP00000264501:p.Asp3673Gly					KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G	p.D3673G			Q2LD37	K1109_HUMAN			66	11391	+			3673					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.11018A>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.321035|4.321035	0.81580|0.81580	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.39592|.	2.2;2.2;1.07|.	5.57|5.57	4.37|4.37	0.52481|0.52481	.|.	0.066944|.	0.64402|.	N|.	0.000017|.	T|T	0.35624|0.35624	0.0938|0.0938	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.13594|.	0.008;0.007|.	B;B|.	0.12156|.	0.007;0.005|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.31617|.	T|.	0.26|.	.|.	11.7505|11.7505	0.51845|0.51845	0.9296:0.0:0.0704:0.0|0.9296:0.0:0.0704:0.0	.|.	3672;3673|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	G|A	3673;3673;377|84	ENSP00000264501:D3673G;ENSP00000373390:D3673G;ENSP00000410874:D377G|.	ENSP00000264501:D3673G|.	D|T	+|+	2|1	0|0	KIAA1109|KIAA1109	123468731|123468731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.404000|7.404000	0.79996|0.79996	2.120000|2.120000	0.65058|0.65058	0.383000|0.383000	0.25322|0.25322	GAC|ACC		0.318	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		19	159	0	0	0	1	0	19	159				
FAT4	79633	broad.mit.edu	37	4	126336858	126336858	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336858T>C	ENST00000394329.3	+	5	6753	c.6740T>C	c.(6739-6741)aTt>aCt	p.I2247T	FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2247	Cadherin 21. {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						ACGGTCAGCATTGTTCTACTG	0.423																																						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.(6739-6741)aTt>aCt		FAT atypical cadherin 4							96.0	94.0	95.0					4																	126336858		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336858T>C	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.6740T>C	4.37:g.126336858T>C	ENSP00000377862:p.Ile2247Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	p.I2247T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6753	+			2247			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6740T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228321	0.39399	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61040	0.14;0.14	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.000000	0.34725	U	0.003733	D	0.84019	0.5380	H	0.96604	3.85	0.58432	D	0.999993	D;D	0.89917	0.997;1.0	D;D	0.91635	0.992;0.999	D	0.89618	0.3846	10	0.87932	D	0	.	15.5516	0.76158	0.0:0.0:0.0:1.0	.	545;2247	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2247;545	ENSP00000377862:I2247T;ENSP00000335169:I545T	ENSP00000335169:I545T	I	+	2	0	FAT4	126556308	1.000000	0.71417	0.041000	0.18516	0.002000	0.02628	7.880000	0.87243	2.075000	0.62263	0.460000	0.39030	ATT		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		79	296	0	0	0	1	0	79	296				
ADHFE1	137872	broad.mit.edu	37	8	67364315	67364315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67364315C>T	ENST00000396623.3	+	9	893	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	288					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCACGCGCTGCGGATCGTGGC	0.567																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(862-864)Cgg>Tgg		alcohol dehydrogenase, iron containing, 1							99.0	81.0	87.0					8																	67364315		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67364315C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.862C>T	8.37:g.67364315C>T	ENSP00000379865:p.Arg288Trp					ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W	p.R288W	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		9	893	+		Lung NSC(129;0.197)	288					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.862C>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	c	15.99	2.996950	0.54147	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.50548	0.74;0.74;0.74	5.52	0.228	0.15364	Alcohol dehydrogenase, iron-type (1);	0.293196	0.30771	N	0.008903	T	0.71126	0.3303	M	0.91612	3.225	0.22112	N	0.999358	D	0.65815	0.995	P	0.62382	0.901	T	0.71659	-0.4526	10	0.87932	D	0	-12.5708	16.6911	0.85322	0.6885:0.3115:0.0:0.0	.	288	Q8IWW8	HOT_HUMAN	W	288;288;240	ENSP00000368695:R288W;ENSP00000379865:R288W;ENSP00000407115:R240W	ENSP00000368695:R288W	R	+	1	2	ADHFE1	67526869	0.000000	0.05858	0.112000	0.21494	0.712000	0.41017	-0.659000	0.05323	-0.256000	0.09473	-0.194000	0.12790	CGG		0.567	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		55	211	0	0	0	1	0	55	211				
AK2	204	broad.mit.edu	37	1	33487216	33487216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33487216C>T	ENST00000487289.1	-	3	323	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q|AK2_ENST00000467905.1_Missense_Mutation_p.R103Q|AK2_ENST00000373449.2_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTCACAGTCCGAGGGAAGCC	0.423																																						ENST00000373449.2																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(307-309)cGg>cAg		adenylate kinase 2							47.0	49.0	48.0					1																	33487216		2203	4300	6503	SO:0001583	missense	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33487216C>T	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.308G>A	1.37:g.33487216C>T	ENSP00000446849:p.Arg103Gln					AK2_ENST00000467905.1_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000487289.1_Missense_Mutation_p.R103Q|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q	p.R103Q	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN			3	349	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	103		R -> W (in RDYS).				Missense_Mutation	SNP	ENST00000487289.1	37	c.308G>A		.	.	.	.	.	.	.	.	.	.	C	25.8	4.676763	0.88445	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	H	0.99967	5.1	0.80722	D	1	B;B;B;B	0.34255	0.15;0.018;0.445;0.15	B;B;B;B	0.40009	0.084;0.01;0.316;0.084	D	0.95841	0.8866	10	0.72032	D	0.01	-11.1021	20.1745	0.98175	0.0:1.0:0.0:0.0	.	103;61;103;103	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	Q	103;61;103;103;103;103;103	ENSP00000362548:R103Q;ENSP00000449003:R61Q;ENSP00000447082:R103Q;ENSP00000450109:R103Q;ENSP00000346921:R103Q;ENSP00000446849:R103Q	ENSP00000346921:R103Q	R	-	2	0	AK2	33259803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.695000	0.68279	2.941000	0.99782	0.655000	0.94253	CGG		0.423	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	NM_001625		57	227	0	0	0	1	0	57	227				
FOXO3	2309	broad.mit.edu	37	6	108984928	108984928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984928C>T	ENST00000343882.6	+	3	1196	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C|FOXO3_ENST00000406360.1_Missense_Mutation_p.R298C	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	298				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCACGTCACGCAGCAGTGA	0.632																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(892-894)Cgc>Tgc		forkhead box O3							23.0	25.0	24.0					6																	108984928		2201	4298	6499	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984928C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.892C>T	6.37:g.108984928C>T	ENSP00000339527:p.Arg298Cys					FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C|FOXO3_ENST00000343882.6_Missense_Mutation_p.R298C	p.R298C	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1235	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	298	PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).				B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.892C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584054	0.46110	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91295	-2.82;-2.82	5.84	5.84	0.93424	.	0.045497	0.85682	D	0.000000	D	0.94384	0.8194	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	D	0.93633	0.6958	10	0.54805	T	0.06	-15.3772	20.1432	0.98067	0.0:1.0:0.0:0.0	.	298	O43524	FOXO3_HUMAN	C	298;298;78;78	ENSP00000339527:R298C;ENSP00000385824:R298C	ENSP00000339527:R298C	R	+	1	0	FOXO3	109091621	1.000000	0.71417	0.967000	0.41034	0.036000	0.12997	7.487000	0.81328	2.769000	0.95229	0.561000	0.74099	CGC		0.632	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			28	122	0	0	0	1	0	28	122				
SPATA21	374955	broad.mit.edu	37	1	16731528	16731528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731528G>A	ENST00000335496.1	-	8	1227	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	249							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCATTAGGAGCAGGATATTC	0.572																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(745-747)Ctc>Ttc		spermatogenesis associated 21							115.0	95.0	102.0					1																	16731528		2203	4300	6503	SO:0001583	missense	374955						calcium ion binding	g.chr1:16731528G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.745C>T	1.37:g.16731528G>A	ENSP00000335612:p.Leu249Phe					SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F	p.L249F	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	8	1227	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	249					B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.745C>T	CCDS172.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825291	0.32237	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.78924	-1.22;-1.22	4.53	0.416	0.16416	EF-hand-like domain (1);	0.307870	0.23506	N	0.047446	T	0.71643	0.3364	L	0.52573	1.65	0.19300	N	0.999976	D;D	0.54601	0.967;0.966	P;P	0.52758	0.584;0.708	T	0.60964	-0.7158	10	0.16420	T	0.52	-6.8806	3.7645	0.08617	0.3108:0.185:0.5042:0.0	.	226;249	F5GXP5;Q7Z572	.;SPT21_HUMAN	F	249;226	ENSP00000335612:L249F;ENSP00000440046:L226F	ENSP00000335612:L249F	L	-	1	0	SPATA21	16604115	0.512000	0.26186	0.849000	0.33467	0.290000	0.27261	0.186000	0.16978	0.226000	0.20979	0.313000	0.20887	CTC		0.572	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		32	213	0	0	0	1	0	32	213				
LOC643711	643711	broad.mit.edu	37	12	98126309	98126309	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98126309G>A	ENST00000550548.1	-	0	461					NR_077240.1																						AGTGCCAGTGGCATAACTGAT	0.468																																						ENST00000550548.1																			0																																																			0							g.chr12:98126309G>A																													12.37:g.98126309G>A								NR_077240.1						0	461	-									RNA	SNP	ENST00000550548.1	37																																																																																						0.468	RP11-1016B18.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000407680.1			14	27	0	0	0	1	0	14	27				
ANKS6	203286	broad.mit.edu	37	9	101536254	101536254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536254G>A	ENST00000353234.4	-	9	1773	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W|ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	576						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACGCGTCCGGGACCGATCA	0.642																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1726-1728)Cgg>Tgg		ankyrin repeat and sterile alpha motif domain containing 6							42.0	48.0	46.0					9																	101536254		1935	4139	6074	SO:0001583	missense	203286							g.chr9:101536254G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1726C>T	9.37:g.101536254G>A	ENSP00000297837:p.Arg576Trp					ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W|ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W	p.R576W			Q68DC2	ANKS6_HUMAN			9	1773	-		Acute lymphoblastic leukemia(62;0.0527)	576					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1726C>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.584812|3.584812	0.65992|0.65992	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.74315	.|1.34;-0.82;-0.83;1.59	5.48|5.48	2.3|2.3	0.28687|0.28687	.|.	.|0.176999	.|0.48767	.|D	.|0.000176	T|T	0.79341|0.79341	0.4429|0.4429	M|M	0.63843|0.63843	1.955|1.955	0.32320|0.32320	N|N	0.562519|0.562519	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.56916	.|0.809;0.65	D|D	0.83447|0.83447	0.0046|0.0046	5|10	.|0.87932	.|D	.|0	-8.574|-8.574	12.0034|12.0034	0.53243|0.53243	0.0:0.0:0.3685:0.6315|0.0:0.0:0.3685:0.6315	.|.	.|576;576	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	L|W	44|275;576;576;381	.|ENSP00000364159:R275W;ENSP00000364158:R576W;ENSP00000297837:R576W;ENSP00000442189:R381W	.|ENSP00000297837:R576W	P|R	-|-	2|1	0|2	ANKS6|ANKS6	100576075|100576075	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.591000|0.591000	0.36615|0.36615	3.055000|3.055000	0.49916|0.49916	0.597000|0.597000	0.29811|0.29811	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.642	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		64	303	0	0	0	1	0	64	303				
CHD3	1107	broad.mit.edu	37	17	7800528	7800528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7800528C>A	ENST00000330494.7	+	11	1985	c.1835C>A	c.(1834-1836)cCg>cAg	p.P612Q	CHD3_ENST00000380358.4_Missense_Mutation_p.P671Q|CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	612					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGAAAGACCCGCACTATGCT	0.547																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2011-2013)cCg>cAg		chromodomain helicase DNA binding protein 3							157.0	124.0	135.0					17																	7800528		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7800528C>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1835C>A	17.37:g.7800528C>A	ENSP00000332628:p.Pro612Gln					CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q|CHD3_ENST00000330494.7_Missense_Mutation_p.P612Q	p.P671Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			11	2013	+		Prostate(122;0.202)	612			Chromo 2.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2012C>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750561	0.69533	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.72167	-0.63;-0.63;-0.63	5.67	5.67	0.87782	.	0.000000	0.44902	D	0.000418	T	0.79975	0.4539	L	0.49126	1.545	0.80722	D	1	D;D;D	0.63046	0.989;0.98;0.992	P;P;P	0.62740	0.906;0.808;0.862	T	0.76594	-0.2902	10	0.34782	T	0.22	-17.69	19.7619	0.96323	0.0:1.0:0.0:0.0	.	612;612;671	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	671;612;612	ENSP00000369716:P671Q;ENSP00000350907:P612Q;ENSP00000332628:P612Q	ENSP00000332628:P612Q	P	+	2	0	CHD3	7741253	1.000000	0.71417	0.349000	0.25694	0.807000	0.45602	7.757000	0.85209	2.681000	0.91329	0.561000	0.74099	CCG		0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		83	365	1	0	3.30373e-36	1	3.95205e-36	83	365				
DMBT1	1755	broad.mit.edu	37	10	124333230	124333230	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124333230G>T	ENST00000338354.3	+	6	341		c.e6-1		DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCACCCTGCAGGTTCTCTGAT	0.567																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.e6-1		deleted in malignant brain tumors 1							171.0	172.0	172.0					10																	124333230		1895	4118	6013	SO:0001630	splice_region_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124333230G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.236-1G>T	10.37:g.124333230G>T						DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site				Q9UGM3	DMBT1_HUMAN			6	341	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)						A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Splice_Site	SNP	ENST00000338354.3	37			.	.	.	.	.	.	.	.	.	.	G	10.40	1.338472	0.24253	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	2.92	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5416	0.39255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMBT1	124323220	0.992000	0.36948	0.685000	0.30070	0.024000	0.10985	3.215000	0.51169	1.949000	0.56562	0.655000	0.94253	.		0.567	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	Intron	146	726	1	0	1.52797e-74	1	1.94704e-74	146	726				
HMCN1	83872	broad.mit.edu	37	1	186024739	186024739	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186024739C>T	ENST00000271588.4	+	45	7306	c.7077C>T	c.(7075-7077)ggC>ggT	p.G2359G	HMCN1_ENST00000367492.2_Silent_p.G2359G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2359	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGACACAGGCCGTTATGTGT	0.428																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(7075-7077)ggC>ggT		hemicentin 1							156.0	138.0	144.0					1																	186024739		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186024739C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7077C>T	1.37:g.186024739C>T						HMCN1_ENST00000367492.2_Silent_p.G2359G	p.G2359G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			45	7306	+			2359			Ig-like C2-type 21.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.7077C>T	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		128	439	0	0	0	1	0	128	439				
ZNF574	64763	broad.mit.edu	37	19	42585038	42585038	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585038C>T	ENST00000600245.1	+	2	2935	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	ZNF574_ENST00000359044.4_Silent_p.H760H|ZNF574_ENST00000222339.7_Silent_p.H850H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	760					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCGCATCCACACAGGTGAGC	0.647																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2278-2280)caC>caT		zinc finger protein 574							139.0	137.0	138.0					19																	42585038		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42585038C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2280C>T	19.37:g.42585038C>T						ZNF574_ENST00000359044.4_Silent_p.H760H|ZNF574_ENST00000222339.7_Silent_p.H850H	p.H760H			Q6ZN55	ZN574_HUMAN			2	2935	+		Prostate(69;0.059)	760					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.2280C>T	CCDS12596.1																																																																																				0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		215	1067	0	0	0	1	0	215	1067				
BTG2	7832	broad.mit.edu	37	1	203274801	203274801	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203274801C>A	ENST00000290551.4	+	1	138	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	23					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCTCTCCAGCCTCCTGAGGAC	0.697																																						ENST00000290551.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(67-69)Ctc>Atc		BTG family, member 2							17.0	16.0	16.0					1																	203274801		2173	4271	6444	SO:0001583	missense	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203274801C>A		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.67C>A	1.37:g.203274801C>A	ENSP00000290551:p.Leu23Ile						p.L23I	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		1	138	+			23					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.67C>A	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654850	0.67472	.	.	ENSG00000159388	ENST00000290551	T	0.26373	1.74	4.66	3.73	0.42828	Anti-proliferative protein (3);	0.000000	0.64402	D	0.000017	T	0.27933	0.0688	M	0.63169	1.94	0.43766	D	0.996284	B	0.22414	0.069	B	0.33750	0.169	T	0.07539	-1.0767	10	0.33940	T	0.23	-39.2938	8.6148	0.33824	0.0:0.8197:0.0:0.1803	.	23	P78543	BTG2_HUMAN	I	23	ENSP00000290551:L23I	ENSP00000290551:L23I	L	+	1	0	BTG2	201541424	0.980000	0.34600	1.000000	0.80357	0.753000	0.42808	1.433000	0.34947	2.425000	0.82216	0.478000	0.44815	CTC		0.697	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		8	25	1	0	0.000274275	1	0.000278163	8	25				
CACNA1G	8913	broad.mit.edu	37	17	48692758	48692758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48692758G>A	ENST00000359106.5	+	27	4796	c.4796G>A	c.(4795-4797)cGc>cAc	p.R1599H	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1599					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACTACTCCCGCTTCCGGCTC	0.632																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4693-4695)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						61.0	64.0	63.0					17																	48692758		2036	4192	6228	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48692758G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4796G>A	17.37:g.48692758G>A	ENSP00000352011:p.Arg1599His					CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H	p.R1565H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		25	5066	+	Breast(11;6.7e-17)		1599					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4694G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	10.88	1.476722	0.26511	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97016	-4.05;-4.05;-4.0;-4.06;-4.05;-4.08;-4.2;-4.18;-4.16;-4.21;-4.03;-4.02;-4.15;-4.04;-4.01;-4.08;-4.06;-4.03;-4.1;-4.05;-4.02;-4.09;-4.03;-4.08;-4.08	4.75	4.75	0.60458	.	0.126247	0.48767	D	0.000168	D	0.95758	0.8620	N	0.26162	0.8	0.35461	D	0.796521	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;P;B;B;B;D;B;B;B;B	0.89917	0.998;0.013;0.998;0.999;0.999;1.0;1.0;0.074;1.0;0.016;0.061;0.027;0.018;0.061;1.0;0.016;0.496;0.063;0.131;0.027;0.999;0.007;0.128;0.016;0.006	D;B;P;D;D;P;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B	0.80764	0.976;0.006;0.834;0.994;0.932;0.904;0.992;0.023;0.992;0.003;0.011;0.013;0.006;0.011;0.904;0.006;0.034;0.013;0.023;0.014;0.984;0.006;0.018;0.006;0.002	D	0.96457	0.9338	10	0.39692	T	0.17	.	11.288	0.49232	0.0848:0.0:0.9152:0.0	.	1542;1554;1547;1581;1554;1581;1606;1565;1599;1588;1599;1576;1588;1588;1581;1588;1599;1576;1599;1565;1558;1565;1576;1599;1565	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1576;1565;1565;1558;1576;1588;1554;1542;1547;1565;1599;1588;1554;1599;1565;1599;1581;1588;1606;1565;1599;1581;1581;1599;1588	ENSP00000353990:R1576H;ENSP00000339302:R1565H;ENSP00000347078:R1565H;ENSP00000409759:R1558H;ENSP00000425522:R1576H;ENSP00000426261:R1588H;ENSP00000425451:R1554H;ENSP00000422407:R1542H;ENSP00000426814:R1547H;ENSP00000427238:R1565H;ENSP00000423112:R1599H;ENSP00000420918:R1588H;ENSP00000426172:R1554H;ENSP00000423045:R1599H;ENSP00000427173:R1565H;ENSP00000426098:R1599H;ENSP00000425698:R1581H;ENSP00000426232:R1588H;ENSP00000423317:R1606H;ENSP00000350979:R1565H;ENSP00000352011:R1599H;ENSP00000414388:R1581H;ENSP00000423155:R1581H;ENSP00000422268:R1599H;ENSP00000421518:R1588H	ENSP00000339302:R1565H	R	+	2	0	CACNA1G	46047757	0.031000	0.19500	1.000000	0.80357	0.982000	0.71751	1.308000	0.33528	2.170000	0.68504	0.462000	0.41574	CGC		0.632	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		47	165	0	0	0	1	0	47	165				
SPEG	10290	broad.mit.edu	37	2	220336654	220336654	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220336654C>T	ENST00000312358.7	+	14	3912	c.3780C>T	c.(3778-3780)agC>agT	p.S1260S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1260	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTACAAGAGCGTCATTGCCA	0.632																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3778-3780)agC>agT		SPEG complex locus							64.0	70.0	68.0					2																	220336654		2164	4258	6422	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220336654C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3780C>T	2.37:g.220336654C>T						SPEG_ENST00000485813.1_3'UTR	p.S1260S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	14	3912	+		Renal(207;0.0183)	1260			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.3780C>T	CCDS42824.1																																																																																				0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		40	199	0	0	0	1	0	40	199				
STAMBPL1	57559	broad.mit.edu	37	10	90673146	90673146	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90673146A>G	ENST00000371926.3	+	6	1667	c.709A>G	c.(709-711)Aat>Gat	p.N237D	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	237						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TGATGCAACCAATTATGCTAG	0.453																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(709-711)Aat>Gat		STAM binding protein-like 1							93.0	88.0	90.0					10																	90673146		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90673146A>G	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.709A>G	10.37:g.90673146A>G	ENSP00000360994:p.Asn237Asp					STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.N237D	p.N237D			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1667	+		Colorectal(252;0.0381)	237					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.709A>G	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	A	0.788	-0.759925	0.03019	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.22743	1.96;1.94;1.96;1.95	5.43	4.27	0.50696	.	0.906390	0.09756	N	0.759943	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.29701	-1.0003	10	0.12103	T	0.63	-1.1119	7.3428	0.26646	0.8548:0.0:0.1452:0.0	.	237;237	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	D	237;237;237;71	ENSP00000360994:N237D;ENSP00000360995:N237D;ENSP00000360992:N237D;ENSP00000360990:N71D	ENSP00000360990:N71D	N	+	1	0	STAMBPL1	90663126	0.000000	0.05858	0.166000	0.22797	0.183000	0.23260	0.537000	0.23144	2.189000	0.69895	0.528000	0.53228	AAT		0.453	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		118	447	0	0	0	1	0	118	447				
FOXA1	3169	broad.mit.edu	37	14	38061834	38061834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38061834G>A	ENST00000250448.2	-	2	216	c.155C>T	c.(154-156)aCc>aTc	p.T52I	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	52					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGTAGTCATGGTGTTCATGGT	0.612																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(154-156)aCc>aTc		forkhead box A1							173.0	151.0	159.0					14																	38061834		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061834G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.155C>T	14.37:g.38061834G>A	ENSP00000250448:p.Thr52Ile					FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I|FOXA1_ENST00000545425.2_5'UTR	p.T52I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	216	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		52					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.155C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949068	0.53186	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19394	2.15;2.15	4.16	4.16	0.48862	Fork-head N-terminal (1);	1.164010	0.06577	N	0.749592	T	0.22166	0.0534	N	0.22421	0.69	0.45946	D	0.998773	P	0.37914	0.611	B	0.39617	0.305	T	0.15321	-1.0441	10	0.66056	D	0.02	.	16.2573	0.82524	0.0:0.0:1.0:0.0	.	52	P55317	FOXA1_HUMAN	I	52;19	ENSP00000250448:T52I;ENSP00000440178:T19I	ENSP00000250448:T52I	T	-	2	0	FOXA1	37131585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.830000	0.55768	2.135000	0.66039	0.561000	0.74099	ACC		0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			101	465	0	0	0	1	0	101	465				
XAB2	56949	broad.mit.edu	37	19	7687518	7687518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687518G>A	ENST00000358368.4	-	11	1438	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	XAB2_ENST00000534844.1_Silent_p.A464A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	467				A -> V (in Ref. 2; AAF86951). {ECO:0000305}.	blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAAAGTACTCGGCCCGGCGGG	0.672								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1399-1401)gcC>gcT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							35.0	37.0	37.0					19																	7687518		2203	4299	6502	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687518G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1401C>T	19.37:g.7687518G>A						XAB2_ENST00000534844.1_Silent_p.A464A	p.A467A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			11	1438	-			467	A -> V (in Ref. 2; AAF86951).				Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.1401C>T	CCDS32892.1																																																																																				0.672	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		38	349	0	0	0	1	0	38	349				
CREB5	9586	broad.mit.edu	37	7	28844112	28844112	+	Silent	SNP	G	G	A	rs61736232	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:28844112G>A	ENST00000357727.2	+	8	1389	c.999G>A	c.(997-999)ccG>ccA	p.P333P	CREB5_ENST00000396300.2_Silent_p.P326P|CREB5_ENST00000409603.1_Silent_p.P300P|CREB5_ENST00000396299.2_Silent_p.P300P|CREB5_ENST00000396298.2_Silent_p.P194P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	333					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CGCCACATCCGCCCCTGCACA	0.542																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(997-999)ccG>ccA		cAMP responsive element binding protein 5		G	,,,	1,4405	2.1+/-5.4	0,1,2202	358.0	247.0	285.0		582,978,999,900	-4.5	0.9	7	dbSNP_129	285	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CREB5	NM_001011666.1,NM_004904.2,NM_182898.2,NM_182899.3	,,,	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	,,,	194/370,326/502,333/509,300/476	28844112	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28844112G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.999G>A	7.37:g.28844112G>A						CREB5_ENST00000409603.1_Silent_p.P300P|CREB5_ENST00000396298.2_Silent_p.P194P|CREB5_ENST00000396299.2_Silent_p.P300P|CREB5_ENST00000396300.2_Silent_p.P326P	p.P333P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			8	1389	+			333					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.999G>A	CCDS5417.1																																																																																				0.542	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		35	787	0	0	0	1	0	35	787				
ARHGAP27	201176	broad.mit.edu	37	17	43507638	43507638	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43507638G>T	ENST00000428638.1	-	1	7	c.8C>A	c.(7-9)gCg>gAg	p.A3E	ARHGAP27_ENST00000290470.3_Missense_Mutation_p.A3E|ARHGAP27_ENST00000528273.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A3E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	3					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCACGTCCGCCGCCATCGC	0.692																																						ENST00000428638.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(7-9)gCg>gAg		Rho GTPase activating protein 27							5.0	5.0	5.0					17																	43507638		1549	3369	4918	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43507638G>T	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.8C>A	17.37:g.43507638G>T	ENSP00000403323:p.Ala3Glu					ARHGAP27_ENST00000290470.3_Missense_Mutation_p.A3E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A3E|ARHGAP27_ENST00000528273.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A3E	p.A3E			Q6ZUM4	RHG27_HUMAN			1	7	-	Renal(3;0.0405)		3					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.8C>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761006	0.69763	.	.	ENSG00000159314	ENST00000532891;ENST00000428638;ENST00000442348;ENST00000528273;ENST00000290470	T;T;T;T;T	0.54071	2.94;2.99;2.9;0.59;0.59	3.43	3.43	0.39272	.	.	.	.	.	T	0.65154	0.2664	L	0.59436	1.845	0.25090	N	0.990867	D	0.71674	0.998	D	0.79108	0.992	T	0.51772	-0.8663	9	0.51188	T	0.08	.	8.7851	0.34816	0.0:0.2329:0.7671:0.0	.	3	Q6ZUM4-4	.	E	3	ENSP00000433942:A3E;ENSP00000403323:A3E;ENSP00000409330:A3E;ENSP00000436137:A3E;ENSP00000290470:A3E	ENSP00000290470:A3E	A	-	2	0	ARHGAP27	40863421	0.985000	0.35326	1.000000	0.80357	0.899000	0.52679	1.837000	0.39201	1.816000	0.52996	0.449000	0.29647	GCG		0.692	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		12	48	1	0	2.31682e-05	1	2.36778e-05	12	48				
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54586236G>A	ENST00000260323.11	+	10	3962	c.3962G>A	c.(3961-3963)gGa>gAa	p.G1321E	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1321E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3961-3963)gGa>gAa		unc-13 homolog C (C. elegans)							231.0	233.0	233.0					15																	54586236		1871	4103	5974	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586236G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3962G>A	15.37:g.54586236G>A	ENSP00000260323:p.Gly1321Glu					UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E|UNC13C_ENST00000260323.11_Missense_Mutation_p.G1321E	p.G1321E			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3962	+			1321					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3962G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915595	0.92178	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.72051	-0.62;-0.62;-0.62	5.91	5.91	0.95273	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87113	0.2186	10	0.87932	D	0	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1321;1321	F5H090;Q8NB66	.;UN13C_HUMAN	E	1321;1321;1319	ENSP00000260323:G1321E;ENSP00000438156:G1321E;ENSP00000442569:G1319E	ENSP00000260323:G1321E	G	+	2	0	UNC13C	52373528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GGA		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		131	610	0	0	0	1	0	131	610				
TAF1C	9013	broad.mit.edu	37	16	84213008	84213008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84213008G>T	ENST00000567759.1	-	14	2331	c.2149C>A	c.(2149-2151)Ctc>Atc	p.L717I	TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I|TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	717					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGCTCACTGAGCTTGTCCTCT	0.716																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(2149-2151)Ctc>Atc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							22.0	26.0	25.0					16																	84213008		2198	4294	6492	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213008G>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2149C>A	16.37:g.84213008G>T	ENSP00000455265:p.Leu717Ile					TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I|TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I	p.L717I	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			14	2331	-			717					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.2149C>A	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440383	0.63067	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02709	4.19;4.19;4.19	5.14	3.97	0.46021	.	0.117523	0.33834	N	0.004508	T	0.11793	0.0287	M	0.72118	2.19	0.28389	N	0.919179	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.00520	-1.1692	10	0.87932	D	0	-37.0793	9.4541	0.38745	0.1147:0.0:0.8853:0.0	.	691;240;717;623	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	I	717;624;623;240	ENSP00000367802:L717I;ENSP00000437900:L624I;ENSP00000345305:L623I	ENSP00000345305:L623I	L	-	1	0	TAF1C	82770509	0.812000	0.29077	0.998000	0.56505	0.707000	0.40811	1.602000	0.36783	2.390000	0.81377	0.561000	0.74099	CTC		0.716	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		22	274	1	0	1.10923e-09	1	1.16946e-09	22	274				
SDCCAG8	10806	broad.mit.edu	37	1	243468021	243468021	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243468021C>T	ENST00000366541.3	+	7	800	c.682C>T	c.(682-684)Cta>Tta	p.L228L	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000391846.1_Silent_p.L228L|SDCCAG8_ENST00000343783.6_Silent_p.L83L|SDCCAG8_ENST00000355875.4_Silent_p.L185L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	228	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATAGGAGAAGCTAAAACTTAC	0.259																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(682-684)Cta>Tta		serologically defined colon cancer antigen 8							54.0	58.0	56.0					1																	243468021		2203	4291	6494	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243468021C>T	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.682C>T	1.37:g.243468021C>T						SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000343783.6_Silent_p.L83L|SDCCAG8_ENST00000391846.1_Silent_p.L228L|SDCCAG8_ENST00000355875.4_Silent_p.L185L	p.L228L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	7	800	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	228			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.682C>T	CCDS31075.1																																																																																				0.259	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		36	172	0	0	0	1	0	36	172				
PRKCI	5584	broad.mit.edu	37	3	170009678	170009678	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170009678T>C	ENST00000295797.4	+	13	1545	c.1240T>C	c.(1240-1242)Tgt>Cgt	p.C414R		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CAGCACTTTCTGTGGTACTCC	0.333																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1240-1242)Tgt>Cgt		protein kinase C, iota							59.0	60.0	60.0					3																	170009678		2203	4296	6499	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170009678T>C		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1240T>C	3.37:g.170009678T>C	ENSP00000295797:p.Cys414Arg						p.C414R	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		13	1545	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		414			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1240T>C	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157508	0.78114	.	.	ENSG00000163558	ENST00000295797	T	0.66638	-0.22	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86293	0.1675	9	.	.	.	.	15.3646	0.74510	0.0:0.0:0.0:1.0	.	414	P41743	KPCI_HUMAN	R	414	ENSP00000295797:C414R	.	C	+	1	0	PRKCI	171492372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.078000	0.62432	0.482000	0.46254	TGT		0.333	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		40	163	0	0	0	1	0	40	163				
GRK6	2870	broad.mit.edu	37	5	176867757	176867757	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176867757G>A	ENST00000355472.5	+	14	1629	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	PRR7-AS1_ENST00000511565.1_RNA|PRR7-AS1_ENST00000514846.1_RNA|GRK6_ENST00000355958.5_Silent_p.K487K|GRK6_ENST00000393576.3_Silent_p.K453K|GRK6_ENST00000528793.1_Silent_p.K487K|PRR7-AS1_ENST00000425316.3_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	487	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGGTCAAGGGCGTGGAGC	0.587																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(1459-1461)aaG>aaA		G protein-coupled receptor kinase 6							98.0	92.0	94.0					5																	176867757		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176867757G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1461G>A	5.37:g.176867757G>A						GRK6_ENST00000355958.5_Silent_p.K487K|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Silent_p.K453K|GRK6_ENST00000528793.1_Silent_p.K487K	p.K487K	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1629	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	487			AGC-kinase C-terminal.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.1461G>A	CCDS34303.1																																																																																				0.587	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		97	339	0	0	0	1	0	97	339				
IGHV3-35	28432	broad.mit.edu	37	14	106845525	106845525	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106845525T>C	ENST00000390617.2	-	0	163									immunoglobulin heavy variable 3-35 (non-functional)																		CATGTCACTGTTACTGAAGGT	0.572																																						ENST00000390617.2																			0																				146.0	135.0	139.0					14																	106845525		1901	4121	6022			0							g.chr14:106845525T>C	M99666		14q32.33	2012-02-08	2008-08-22		ENSG00000211957	ENSG00000211957		"""Immunoglobulins / IGH locus"""	5598	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-35"""				Standard	NG_001019		Approved				OTTHUMG00000152079		14.37:g.106845525T>C														0	163	-									RNA	SNP	ENST00000390617.2	37																																																																																						0.572	IGHV3-35-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325174.1	NG_001019		181	761	0	0	0	1	0	181	761				
WNT8A	7478	broad.mit.edu	37	5	137424615	137424615	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424615G>A	ENST00000398754.1	+	5	372		c.e5-1		WNT8A_ENST00000506684.1_Splice_Site	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A						canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTGTATATAGGAGGCCATGG	0.527																																						ENST00000506684.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18						c.e4-1		wingless-type MMTV integration site family, member 8A							71.0	78.0	76.0					5																	137424615		2129	4269	6398	SO:0001630	splice_region_variant	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137424615G>A	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.368-1G>A	5.37:g.137424615G>A						WNT8A_ENST00000398754.1_Splice_Site				Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	657	+								Q96S51	Splice_Site	SNP	ENST00000398754.1	37		CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402597	0.83230	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WNT8A	137452514	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.395000	0.97266	2.941000	0.99782	0.655000	0.94253	.		0.527	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	Intron	12	465	0	0	0	1	0	12	465				
TUBA8	51807	broad.mit.edu	37	22	18604408	18604408	+	Missense_Mutation	SNP	A	A	C	rs575784867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18604408A>C	ENST00000330423.3	+	2	239	c.166A>C	c.(166-168)Act>Cct	p.T56P	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	56					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTCAGCGAGACTGGCAATGG	0.557																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(166-168)Act>Cct		tubulin, alpha 8							92.0	80.0	84.0					22																	18604408		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18604408A>C	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.166A>C	22.37:g.18604408A>C	ENSP00000333326:p.Thr56Pro					TUBA8_ENST00000316027.6_5'UTR	p.T56P	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			2	239	+			56					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.166A>C	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818843	0.50633	.	.	ENSG00000183785	ENST00000330423;ENST00000416740	T;T	0.70869	-0.52;-0.52	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.171645	0.50627	D	0.000104	T	0.80423	0.4620	H	0.95260	3.645	0.54753	D	0.999987	B;B;B	0.24186	0.058;0.022;0.099	B;B;B	0.27796	0.083;0.027;0.044	T	0.82376	-0.0488	10	0.87932	D	0	.	14.2915	0.66281	1.0:0.0:0.0:0.0	.	80;56;55	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	P	56;80	ENSP00000333326:T56P;ENSP00000412646:T80P	ENSP00000333326:T56P	T	+	1	0	TUBA8	16984408	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.339000	0.96797	2.030000	0.59900	0.459000	0.35465	ACT		0.557	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		51	234	0	0	0	1	0	51	234				
PKHD1L1	93035	broad.mit.edu	37	8	110478960	110478960	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478960C>A	ENST00000378402.5	+	50	8671	c.8567C>A	c.(8566-8568)tCt>tAt	p.S2856Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2856					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCCAGTATCTCTGCTTGAA	0.398										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8566-8568)tCt>tAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							138.0	125.0	129.0					8																	110478960		1908	4125	6033	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110478960C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8567C>A	8.37:g.110478960C>A	ENSP00000367655:p.Ser2856Tyr	HNSCC(38;0.096)					p.S2856Y	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		50	8671	+			2856					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8567C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095845	0.76870	.	.	ENSG00000205038	ENST00000378402	D	0.88124	-2.34	6.16	6.16	0.99307	.	0.065168	0.64402	D	0.000006	D	0.91395	0.7285	M	0.74258	2.255	0.43863	D	0.996461	P	0.46578	0.88	P	0.51701	0.677	D	0.91602	0.5296	10	0.87932	D	0	.	18.3537	0.90348	0.0:1.0:0.0:0.0	.	2856	Q86WI1	PKHL1_HUMAN	Y	2856	ENSP00000367655:S2856Y	ENSP00000367655:S2856Y	S	+	2	0	PKHD1L1	110548136	1.000000	0.71417	0.755000	0.31263	0.434000	0.31775	6.559000	0.73946	2.937000	0.99478	0.650000	0.86243	TCT		0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	121	1	0	0.27861	1	0.278732	8	121				
RENBP	5973	broad.mit.edu	37	X	153208501	153208501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153208501C>T	ENST00000393700.3	-	6	573	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000412763.1_Missense_Mutation_p.V165I	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	165					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCCAGTGGACGATCTGATCC	0.687																																						ENST00000412763.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(493-495)Gtc>Atc		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						19.0	16.0	17.0					X																	153208501		2195	4286	6481	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153208501C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.493G>A	X.37:g.153208501C>T	ENSP00000377303:p.Val165Ile					RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000393700.3_Missense_Mutation_p.V165I	p.V165I			P51606	RENBP_HUMAN			6	662	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		165					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.493G>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	0.572	-0.840675	0.02692	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.29397	1.57;1.57;1.57	3.92	-1.74	0.08056	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.663319	0.14678	N	0.304911	T	0.16471	0.0396	N	0.20401	0.57	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.11329	0.004;0.006	T	0.24261	-1.0165	10	0.23891	T	0.37	-12.8598	9.9145	0.41425	0.0:0.4931:0.0:0.5069	.	165;165	P51606-2;P51606	.;RENBP_HUMAN	I	165;165;151	ENSP00000377303:V165I;ENSP00000387811:V165I;ENSP00000359014:V151I	ENSP00000359014:V151I	V	-	1	0	RENBP	152861695	0.000000	0.05858	0.506000	0.27664	0.123000	0.20343	0.222000	0.17699	-0.396000	0.07703	0.183000	0.17082	GTC		0.687	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		47	153	0	0	0	1	0	47	153				
DPYS	1807	broad.mit.edu	37	8	105456654	105456654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105456654C>A	ENST00000351513.2	-	4	747	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	205					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGCCAACATCTTCTTTGCTC	0.488																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(613-615)aaG>aaT		dihydropyrimidinase							53.0	50.0	51.0					8																	105456654		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456654C>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.615G>T	8.37:g.105456654C>A	ENSP00000276651:p.Lys205Asn						p.K205N	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	747	-			205						Missense_Mutation	SNP	ENST00000351513.2	37	c.615G>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026521	0.54683	.	.	ENSG00000147647	ENST00000351513	D	0.89939	-2.59	5.67	3.85	0.44370	Amidohydrolase 1 (1);	0.049823	0.85682	N	0.000000	D	0.87601	0.6218	M	0.72576	2.205	0.40661	D	0.982129	B	0.27229	0.172	B	0.35655	0.207	D	0.84252	0.0478	10	0.87932	D	0	-8.3477	5.362	0.16093	0.1443:0.6411:0.0:0.2146	.	205	Q14117	DPYS_HUMAN	N	205	ENSP00000276651:K205N	ENSP00000276651:K205N	K	-	3	2	DPYS	105525830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.301000	0.43628	0.714000	0.32081	0.655000	0.94253	AAG		0.488	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		15	215	1	0	4.7546e-09	1	4.99022e-09	15	215				
PRRC2C	23215	broad.mit.edu	37	1	171553157	171553157	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171553157C>A	ENST00000338920.4	+	29	7703	c.7466C>A	c.(7465-7467)gCt>gAt	p.A2489D	PRRC2C_ENST00000392078.3_Missense_Mutation_p.A2491D|PRRC2C_ENST00000426496.2_Missense_Mutation_p.A2424D|PRRC2C_ENST00000367742.3_Missense_Mutation_p.A2491D	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2489	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TCTGGTACTGCTATTCACAAC	0.408																																						ENST00000367742.3																			0											c.(7471-7473)gCt>gAt		proline-rich coiled-coil 2C							135.0	126.0	129.0					1																	171553157		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171553157C>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7466C>A	1.37:g.171553157C>A	ENSP00000343629:p.Ala2489Asp					PRRC2C_ENST00000338920.4_Missense_Mutation_p.A2489D|PRRC2C_ENST00000392078.3_Missense_Mutation_p.A2491D|PRRC2C_ENST00000426496.2_Missense_Mutation_p.A2424D	p.A2491D			Q9Y520	PRC2C_HUMAN			29	7714	+			2489			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.7472C>A	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.353405|4.353405	0.82243|0.82243	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.03301|.	3.99;3.98;3.98;3.98|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.149763|.	0.30830|.	N|.	0.008793|.	T|T	0.63189|0.63189	0.2490|0.2490	L|L	0.46157|0.46157	1.445|1.445	0.53005|0.53005	D|D	0.999964|0.999964	B;D|.	0.53462|.	0.079;0.96|.	B;P|.	0.51229|.	0.035;0.663|.	T|T	0.56541|0.56541	-0.7962|-0.7962	10|5	0.87932|.	D|.	0|.	.|.	20.4581|20.4581	0.99154|0.99154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2424;2489|.	B7WNZ6;Q9Y520-4|.	.;.|.	D|I	2491;2443;2424;2491;2489;2246|972	ENSP00000375928:A2491D;ENSP00000410219:A2424D;ENSP00000356716:A2491D;ENSP00000343629:A2489D|.	ENSP00000343629:A2489D|.	A|L	+|+	2|1	0|2	PRRC2C|PRRC2C	169819781|169819781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.277000|7.277000	0.78572|0.78572	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCT|CTA		0.408	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		18	545	1	0	6.94344e-10	1	7.33246e-10	18	545				
ACKR3	57007	broad.mit.edu	37	2	237489978	237489978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237489978G>A	ENST00000272928.3	+	2	1180	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	290					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GCCGGCTGGAGCACGCCCTCT	0.592																																						ENST00000272928.3																			0											c.(868-870)gaG>gaA		atypical chemokine receptor 3							142.0	118.0	126.0					2																	237489978		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489978G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.870G>A	2.37:g.237489978G>A							p.E290E	NM_020311.2	NP_064707.1					2	1180	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.870G>A	CCDS2516.1																																																																																				0.592	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		233	489	0	0	0	1	0	233	489				
ZCWPW1	55063	broad.mit.edu	37	7	100014052	100014052	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100014052A>C	ENST00000398027.2	-	7	754	c.507T>G	c.(505-507)atT>atG	p.I169M	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I48M|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	169							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGACACTGAAATCTCTTGAG	0.418																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(505-507)atT>atG		zinc finger, CW type with PWWP domain 1							119.0	109.0	112.0					7																	100014052		1871	4112	5983	SO:0001583	missense	55063						zinc ion binding	g.chr7:100014052A>C	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.507T>G	7.37:g.100014052A>C	ENSP00000381109:p.Ile169Met					ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I48M	p.I169M	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			7	754	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		169					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.507T>G	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	A	7.804	0.714256	0.15306	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.56776	0.45;0.53;0.44;0.53	5.23	1.29	0.21616	.	0.774317	0.11398	N	0.568126	T	0.28830	0.0715	N	0.24115	0.695	0.09310	N	1	P;P;B;P;P	0.37441	0.506;0.595;0.264;0.595;0.525	B;B;B;B;B	0.33454	0.074;0.123;0.044;0.123;0.164	T	0.11012	-1.0605	9	.	.	.	-0.4614	1.3621	0.02194	0.5315:0.189:0.0982:0.1812	.	169;129;170;169;48	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	M	169;48;169;48;170	ENSP00000381109:I169M;ENSP00000419187:I48M;ENSP00000354210:I169M;ENSP00000314880:I48M	.	I	-	3	3	ZCWPW1	99851988	0.355000	0.24921	0.957000	0.39632	0.211000	0.24417	0.340000	0.19892	0.873000	0.35799	0.533000	0.62120	ATT		0.418	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		89	342	0	0	0	1	0	89	342				
TMCC2	9911	broad.mit.edu	37	1	205238374	205238374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205238374C>T	ENST00000358024.3	+	3	1433	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	TMCC2_ENST00000329800.7_Silent_p.A108A|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000545499.1_Silent_p.A270A	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	348						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGACCATCGCCCAGCTGCACA	0.597																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1042-1044)gcC>gcT		transmembrane and coiled-coil domain family 2							44.0	37.0	40.0					1																	205238374		2203	4300	6503	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205238374C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1044C>T	1.37:g.205238374C>T						TMCC2_ENST00000329800.7_Silent_p.A108A|TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000545499.1_Silent_p.A270A|TMCC2_ENST00000495538.1_3'UTR	p.A348A	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1433	+	Breast(84;0.0871)		348					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.1044C>T	CCDS30984.1																																																																																				0.597	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		73	212	0	0	0	1	0	73	212				
RNF128	79589	broad.mit.edu	37	X	106016311	106016311	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016311T>G	ENST00000255499.2	+	2	903	c.653T>G	c.(652-654)aTt>aGt	p.I218S	RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	218					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTTTTATTATTACGGCGGCA	0.408																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(652-654)aTt>aGt		ring finger protein 128, E3 ubiquitin protein ligase							187.0	148.0	161.0					X																	106016311		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016311T>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.653T>G	X.37:g.106016311T>G	ENSP00000255499:p.Ile218Ser					RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	p.I218S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	903	+			218					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.653T>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055257	0.55325	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.33438	1.41;2.75;2.56	5.83	5.83	0.93111	.	0.057243	0.64402	D	0.000002	T	0.25680	0.0625	N	0.14661	0.345	0.45272	D	0.998276	B;P	0.46395	0.237;0.877	B;P	0.46339	0.157;0.513	T	0.06552	-1.0820	10	0.56958	D	0.05	.	13.8541	0.63515	0.0:0.0:0.0:1.0	.	218;192	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	165;192;218	ENSP00000412610:I165S;ENSP00000316127:I192S;ENSP00000255499:I218S	ENSP00000255499:I218S	I	+	2	0	RNF128	105902967	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.987000	0.63857	1.953000	0.56701	0.417000	0.27973	ATT		0.408	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		107	392	0	0	0	1	0	107	392				
PUS3	83480	broad.mit.edu	37	11	125765172	125765172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125765172C>A	ENST00000530811.1	-	2	936	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E297D|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	297					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CATCAATAATCTCTGGCTTCT	0.403																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(889-891)gaG>gaT		pseudouridylate synthase 3							94.0	97.0	96.0					11																	125765172		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125765172C>A	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.891G>T	11.37:g.125765172C>A	ENSP00000432386:p.Glu297Asp					HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.E297D|HYLS1_ENST00000526028.1_Intron	p.E297D	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	3	988	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	297					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.891G>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811514	0.32053	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.55930	0.49;0.49	5.73	-1.31	0.09230	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.143577	0.64402	N	0.000008	T	0.29976	0.0750	L	0.35341	1.055	0.40461	D	0.980245	B	0.12630	0.006	B	0.15052	0.012	T	0.04115	-1.0976	10	0.31617	T	0.26	-5.9672	0.7425	0.00976	0.2463:0.32:0.1106:0.3231	.	297	Q9BZE2	PUS3_HUMAN	D	297	ENSP00000227474:E297D;ENSP00000432386:E297D	ENSP00000227474:E297D	E	-	3	2	PUS3	125270382	0.020000	0.18652	0.517000	0.27799	0.997000	0.91878	-0.097000	0.11042	-0.252000	0.09528	0.591000	0.81541	GAG		0.403	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		91	396	1	0	2.67636e-39	1	3.23553e-39	91	396				
DCUN1D4	23142	broad.mit.edu	37	4	52740552	52740552	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740552G>A	ENST00000334635.5	+	4	431		c.e4+1		DCUN1D4_ENST00000513800.1_Splice_Site|DCUN1D4_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000381437.4_Splice_Site	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4							nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GACATGATAGGTATGATGTAG	0.403																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.e4+1		DCN1, defective in cullin neddylation 1, domain containing 4							98.0	94.0	95.0					4																	52740552		2203	4300	6503	SO:0001630	splice_region_variant	23142							g.chr4:52740552G>A	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.251+1G>A	4.37:g.52740552G>A						DCUN1D4_ENST00000513800.1_Splice_Site|DCUN1D4_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000381437.4_Splice_Site		NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		4	431	+								B4DH25|Q7Z3F3|Q7Z6B8	Splice_Site	SNP	ENST00000334635.5	37		CCDS33982.1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216602	0.58452	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6259	0.76855	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCUN1D4	52435309	1.000000	0.71417	0.998000	0.56505	0.650000	0.38633	7.843000	0.86859	2.366000	0.80165	0.651000	0.88453	.		0.403	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115	Intron	57	259	0	0	0	1	0	57	259				
DST	667	broad.mit.edu	37	6	56492082	56492082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56492082G>A	ENST00000361203.3	-	30	4016	c.4009C>T	c.(4009-4011)Ctg>Ttg	p.L1337L	DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000370788.2_Silent_p.L1337L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000370769.4_Silent_p.L1337L|DST_ENST00000370754.5_Silent_p.L1515L|DST_ENST00000518935.1_Silent_p.L1011L			Q03001	DYST_HUMAN	dystonin	1337					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGGACACCAGCATCTATAAA	0.348																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4543-4545)Ctg>Ttg		dystonin							151.0	139.0	143.0					6																	56492082		2203	4299	6502	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56492082G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4009C>T	6.37:g.56492082G>A						DST_ENST00000370769.4_Silent_p.L1337L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000361203.3_Silent_p.L1337L|DST_ENST00000370788.2_Silent_p.L1337L|DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000518935.1_Silent_p.L1011L	p.L1515L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		33	4542	-	Lung NSC(77;0.103)		1337					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.4543C>T																																																																																					0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		91	418	0	0	0	1	0	91	418				
CPA2	1358	broad.mit.edu	37	7	129929527	129929527	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129929527C>A	ENST00000222481.4	+	11	1255	c.1200C>A	c.(1198-1200)gcC>gcA	p.A400A		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	400					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGCCCACAGCCGAGGAGACCT	0.532																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1198-1200)gcC>gcA		carboxypeptidase A2 (pancreatic)							106.0	100.0	102.0					7																	129929527		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129929527C>A	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1200C>A	7.37:g.129929527C>A							p.A400A	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			11	1255	+	Melanoma(18;0.0435)		400					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.1200C>A	CCDS5817.2																																																																																				0.532	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		8	491	1	0	0.00448238	1	0.00451339	8	491				
ACRV1	56	broad.mit.edu	37	11	125546291	125546291	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125546291C>A	ENST00000533904.1	-	3	978	c.636G>T	c.(634-636)caG>caT	p.Q212H	ACRV1_ENST00000315608.3_Missense_Mutation_p.Q193H|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H|ACRV1_ENST00000530048.1_Missense_Mutation_p.Q157H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000527795.1_Missense_Mutation_p.Q142H			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	212					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GCTGGGAATTCTGAGTGATGC	0.398																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(634-636)caG>caT		acrosomal vesicle protein 1							147.0	143.0	144.0					11																	125546291		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125546291C>A	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.636G>T	11.37:g.125546291C>A	ENSP00000432816:p.Gln212His					ACRV1_ENST00000433875.1_Missense_Mutation_p.Q193H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000257382.2_Missense_Mutation_p.Q157H|ACRV1_ENST00000426183.1_Missense_Mutation_p.Q142H|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H	p.Q212H			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	3	978	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	212					Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.636G>T	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598244	0.66332	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000425431;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.69	2.76	0.32466	.	0.178796	0.27415	N	0.019476	T	0.42787	0.1218	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.984;0.967;0.996;0.985;0.974;0.998;0.996	P;P;D;P;P;D;D	0.66847	0.851;0.748;0.921;0.864;0.641;0.947;0.94	T	0.26608	-1.0098	10	0.59425	D	0.04	-0.0754	5.1993	0.15254	0.2036:0.6892:0.0:0.1072	.	212;193;117;157;68;142;123	P26436;P26436-2;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	H	212;193;157;142;123;117;112;68;193;157;142	ENSP00000432816:Q212H;ENSP00000407846:Q193H;ENSP00000257382:Q157H;ENSP00000411583:Q142H;ENSP00000397448:Q123H;ENSP00000412653:Q117H;ENSP00000257385:Q112H;ENSP00000395453:Q68H;ENSP00000317684:Q193H;ENSP00000433720:Q157H;ENSP00000436819:Q142H	ENSP00000257382:Q157H	Q	-	3	2	ACRV1	125051501	0.948000	0.32251	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	0.660000	0.30964	0.655000	0.94253	CAG		0.398	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		106	431	1	0	5.89325e-56	1	7.37154e-56	106	431				
ZNF263	10127	broad.mit.edu	37	16	3338556	3338556	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3338556G>T	ENST00000219069.5	+	5	1748	c.872G>T	c.(871-873)aGa>aTa	p.R291I	ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	291					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGAGCCCCAGAGGCCCAGCT	0.547																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(871-873)aGa>aTa		zinc finger protein 263							50.0	49.0	50.0					16																	3338556		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3338556G>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.872G>T	16.37:g.3338556G>T	ENSP00000219069:p.Arg291Ile					ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Intron	p.R291I	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			5	1748	+			291					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.872G>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	4.403	0.074462	0.08485	.	.	ENSG00000006194	ENST00000219069	T	0.05855	3.38	5.5	3.31	0.37934	.	0.552403	0.16687	N	0.203685	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	0.999994	B	0.22480	0.07	B	0.25759	0.063	T	0.38802	-0.9644	10	0.38643	T	0.18	.	8.8994	0.35485	0.1948:0.0:0.8052:0.0	.	291	O14978	ZN263_HUMAN	I	291	ENSP00000219069:R291I	ENSP00000219069:R291I	R	+	2	0	ZNF263	3278557	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.366000	0.20365	1.300000	0.44818	0.655000	0.94253	AGA		0.547	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			28	183	1	0	1.75199e-13	1	1.89187e-13	28	183				
WDR7	23335	broad.mit.edu	37	18	54547231	54547231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54547231C>T	ENST00000254442.3	+	21	3572	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1121					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGAGGAAAGACGGAAGCAAGC	0.378																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3361-3363)Cgg>Tgg		WD repeat domain 7							92.0	84.0	87.0					18																	54547231		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54547231C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3361C>T	18.37:g.54547231C>T	ENSP00000254442:p.Arg1121Trp					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W	p.R1121W	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3572	+			1121					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3361C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742449	0.69418	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.73575	-0.76;2.16	5.37	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	L	0.60455	1.87	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.83560	0.0106	10	0.87932	D	0	.	13.5355	0.61644	0.5367:0.4633:0.0:0.0	.	1088;1121	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	1121;1088;446;1088	ENSP00000254442:R1121W;ENSP00000350187:R1088W	ENSP00000254442:R1121W	R	+	1	2	WDR7	52698229	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	1.987000	0.40687	0.655000	0.30866	0.655000	0.94253	CGG		0.378	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			52	281	0	0	0	1	0	52	281				
TTLL13P	440307	broad.mit.edu	37	15	90800938	90800938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90800938G>A	ENST00000561573.1	+	6	895	c.631G>A	c.(631-633)Gct>Act	p.A211T	TTLL13_ENST00000339615.5_Missense_Mutation_p.A307T|TTLL13_ENST00000438251.1_Missense_Mutation_p.A307T																							CCGGGATGGCGCTGTGGGCAG	0.527																																						ENST00000561573.1																			0											c.(631-633)Gct>Act									196.0	190.0	192.0					15																	90800938		2199	4298	6497	SO:0001583	missense	0							g.chr15:90800938G>A																												ENST00000561573.1:c.631G>A	15.37:g.90800938G>A	ENSP00000456615:p.Ala211Thr					TTLL13_ENST00000438251.1_Missense_Mutation_p.A307T|TTLL13_ENST00000339615.5_Missense_Mutation_p.A307T	p.A211T							6	895	+									Missense_Mutation	SNP	ENST00000561573.1	37	c.631G>A		.	.	.	.	.	.	.	.	.	.	G	2.494	-0.316714	0.05386	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.05580	3.42;3.42	5.58	2.26	0.28386	.	0.233306	0.37577	N	0.002028	T	0.02848	0.0085	N	0.13198	0.31	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43475	-0.9389	10	0.17369	T	0.5	.	2.5346	0.04711	0.2564:0.0:0.3363:0.4073	.	307	A6NNM8-2	.	T	307	ENSP00000413362:A307T;ENSP00000345294:A307T	ENSP00000345294:A307T	A	+	1	0	TTLL13	88601942	0.010000	0.17322	0.071000	0.20095	0.060000	0.15804	1.640000	0.37186	0.694000	0.31654	-0.254000	0.11334	GCT		0.527	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000435855.1			57	275	0	0	0	1	0	57	275				
DNMT3A	1788	broad.mit.edu	37	2	25469575	25469575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25469575G>A	ENST00000264709.3	-	10	1530	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	398	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCCACGGCCTTGGCAGT	0.642			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1192-1194)gCc>gTc		DNA (cytosine-5-)-methyltransferase 3 alpha							81.0	79.0	80.0					2																	25469575		2203	4299	6502	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469575G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1193C>T	2.37:g.25469575G>A	ENSP00000264709:p.Ala398Val					DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V	p.A398V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			10	1530	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		398			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1193C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696275	0.48202	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.87	4.87	0.63330	.	0.138248	0.49305	D	0.000144	D	0.90587	0.7049	N	0.08118	0	0.80722	D	1	B;B	0.21225	0.002;0.053	B;B	0.08055	0.0;0.003	D	0.87477	0.2418	10	0.54805	T	0.06	-5.7502	15.5438	0.76077	0.0:0.0:1.0:0.0	.	398;209	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	209;398;398;175	ENSP00000370122:A209V;ENSP00000324375:A398V;ENSP00000264709:A398V;ENSP00000384237:A175V	ENSP00000264709:A398V	A	-	2	0	DNMT3A	25323079	1.000000	0.71417	0.957000	0.39632	0.978000	0.69477	4.409000	0.59768	2.535000	0.85469	0.655000	0.94253	GCC		0.642	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		56	726	0	0	0	1	0	56	726				
CDH10	1008	broad.mit.edu	37	5	24535872	24535872	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24535872C>T	ENST00000264463.4	-	4	1093	c.586G>A	c.(586-588)Gcc>Acc	p.A196T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A196P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGACTCTGGCGCTGTTCCCA	0.453										HNSCC(23;0.051)																												ENST00000264463.4																			1	Substitution - Missense(1)	p.A196P(1)	lung(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(586-588)Gcc>Acc		cadherin 10, type 2 (T2-cadherin)							136.0	124.0	128.0					5																	24535872		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535872C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.586G>A	5.37:g.24535872C>T	ENSP00000264463:p.Ala196Thr	HNSCC(23;0.051)					p.A196T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	1093	-			196			Cadherin 2.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.586G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687570	0.96784	.	.	ENSG00000040731	ENST00000264463	T	0.01767	4.65	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.00005	-1.2546	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	196	Q9Y6N8	CAD10_HUMAN	T	196	ENSP00000264463:A196T	ENSP00000264463:A196T	A	-	1	0	CDH10	24571629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		0.453	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		40	233	0	0	0	1	0	40	233				
CCR4	1233	broad.mit.edu	37	3	32995580	32995580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995580C>A	ENST00000330953.5	+	2	834	c.666C>A	c.(664-666)taC>taA	p.Y222*		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	222					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTTTTGCTACTCCATGATCA	0.483																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(664-666)taC>taA		chemokine (C-C motif) receptor 4							136.0	118.0	124.0					3																	32995580		2203	4300	6503	SO:0001587	stop_gained	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995580C>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.666C>A	3.37:g.32995580C>A	ENSP00000332659:p.Tyr222*						p.Y222*	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	834	+			222					Q9ULY6|Q9ULY7	Nonsense_Mutation	SNP	ENST00000330953.5	37	c.666C>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576924	0.96565	.	.	ENSG00000183813	ENST00000330953	.	.	.	5.95	4.13	0.48395	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4166	0.38525	0.0:0.7773:0.0:0.2227	.	.	.	.	X	222	.	ENSP00000332659:Y222X	Y	+	3	2	CCR4	32970584	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	1.039000	0.30266	1.498000	0.48600	0.655000	0.94253	TAC		0.483	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			14	413	1	0	0.000151284	1	0.000153739	14	413				
TRIM36	55521	broad.mit.edu	37	5	114499317	114499317	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114499317C>A	ENST00000282369.3	-	2	317	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Missense_Mutation_p.D54Y|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	66					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGAATGAATCATCGAGAGTC	0.458																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(160-162)Gat>Tat		tripartite motif containing 36							160.0	148.0	152.0					5																	114499317		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499317C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.196G>T	5.37:g.114499317C>A	ENSP00000282369:p.Asp66Tyr					TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.D66Y	p.D54Y			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	486	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	66					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.160G>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415762	0.83449	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.55413	0.52;0.64;0.93	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.237750	0.42964	D	0.000625	T	0.74741	0.3756	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.979	T	0.77907	-0.2412	10	0.72032	D	0.01	.	18.9679	0.92704	0.0:1.0:0.0:0.0	.	54;66	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	66;54;54	ENSP00000282369:D66Y;ENSP00000423934:D54Y;ENSP00000424743:D54Y	ENSP00000282369:D66Y	D	-	1	0	TRIM36	114527216	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	7.348000	0.79366	2.468000	0.83385	0.655000	0.94253	GAT		0.458	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		85	373	1	0	2.13431e-38	1	2.57195e-38	85	373				
CCNJ	54619	broad.mit.edu	37	10	97817750	97817750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97817750C>T	ENST00000265992.5	+	6	1238	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C|CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	291						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ACTGCAGTATCGCCATCCTAC	0.498																																						ENST00000265992.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(871-873)Cgc>Tgc		cyclin J							306.0	256.0	273.0					10																	97817750		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97817750C>T	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.871C>T	10.37:g.97817750C>T	ENSP00000265992:p.Arg291Cys					CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C	p.R291C	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	6	1238	+			291					B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.871C>T	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230083	0.39399	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.46063	0.88;1.47;0.88	5.5	5.5	0.81552	.	0.284824	0.39687	N	0.001287	T	0.24392	0.0591	N	0.08118	0	0.45284	D	0.998287	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.05419	-1.0886	10	0.39692	T	0.17	-12.6063	12.6537	0.56776	0.0:0.92:0.0:0.08	.	302;290;291	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	C	291;302;290;291	ENSP00000265992:R291C;ENSP00000384498:R290C;ENSP00000441415:R291C	ENSP00000265992:R291C	R	+	1	0	CCNJ	97807740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.381000	0.44336	2.744000	0.94065	0.655000	0.94253	CGC		0.498	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		148	565	0	0	0	1	0	148	565				
BCO2	83875	broad.mit.edu	37	11	112084459	112084459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:112084459G>A	ENST00000357685.5	+	9	1342	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	403					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCATAATTCAGCAGCCAAATC	0.408																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.(1207-1209)Gca>Aca		beta-carotene oxygenase 2							199.0	200.0	200.0					11																	112084459		2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112084459G>A	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1207G>A	11.37:g.112084459G>A	ENSP00000350314:p.Ala403Thr					BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T	p.A403T			Q9BYV7	BCDO2_HUMAN			9	1342	+			403					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.1207G>A	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.872|1.872	-0.460077|-0.460077	0.04508|0.04508	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000530677	D;D;D;D;D;D;D|D	0.94687|0.94862	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49|-3.54	5.27|5.27	1.17|1.17	0.20885|0.20885	.|.	1.298920|.	0.04967|.	N|.	0.463152|.	D|D	0.86351|0.86351	0.5912|0.5912	N|N	0.12637|0.12637	0.245|0.245	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33777|.	0.001;0.425;0.001;0.003|.	B;B;B;B|.	0.34418|.	0.007;0.182;0.016;0.026|.	T|T	0.76841|0.76841	-0.2810|-0.2810	10|7	0.19590|0.37606	T|T	0.45|0.19	-4.7509|-4.7509	5.0829|5.0829	0.14666|0.14666	0.3056:0.0:0.5596:0.1348|0.3056:0.0:0.5596:0.1348	.|.	380;330;403;230|.	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7|.	.;.;BCDO2_HUMAN;.|.	T|N	403;369;330;369;369;298;369|170	ENSP00000350314:A403T;ENSP00000376752:A369T;ENSP00000354338:A330T;ENSP00000414843:A369T;ENSP00000436615:A369T;ENSP00000431802:A298T;ENSP00000437053:A369T|ENSP00000432045:S170N	ENSP00000350314:A403T|ENSP00000432045:S170N	A|S	+|+	1|2	0|0	BCO2|BCO2	111589669|111589669	0.003000|0.003000	0.15002|0.15002	0.042000|0.042000	0.18584|0.18584	0.094000|0.094000	0.18550|0.18550	0.006000|0.006000	0.13152|0.13152	-0.032000|-0.032000	0.13758|0.13758	-0.237000|-0.237000	0.12165|0.12165	GCA|AGC		0.408	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		159	907	0	0	0	1	0	159	907				
NPAS1	4861	broad.mit.edu	37	19	47535606	47535606	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47535606G>A	ENST00000602212.1	+	4	649	c.429G>A	c.(427-429)ttG>ttA	p.L143L	NPAS1_ENST00000439365.2_5'Flank|NPAS1_ENST00000449844.2_Silent_p.L143L|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	143	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GTCACATCTTGCAGGTGAGTG	0.642											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602212.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(427-429)ttG>ttA		neuronal PAS domain protein 1							39.0	44.0	42.0					19																	47535606		2203	4300	6503	SO:0001819	synonymous_variant	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47535606G>A	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.429G>A	19.37:g.47535606G>A			OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.L143L	p.L143L			Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	4	649	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	143			PAS 1.		B4DR69|Q99632|Q9BY83	Silent	SNP	ENST00000602212.1	37	c.429G>A	CCDS12694.1																																																																																				0.642	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		92	359	0	0	0	1	0	92	359				
PPP2R5C	5527	broad.mit.edu	37	14	102368104	102368104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102368104G>T	ENST00000334743.5	+	9	949	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*|PPP2R5C_ENST00000422945.2_Nonsense_Mutation_p.E332*	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	301					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGTCCAAAAGAAGTAATGTT	0.443																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(994-996)Gaa>Taa		protein phosphatase 2, regulatory subunit B', gamma							122.0	117.0	119.0					14																	102368104		2203	4300	6503	SO:0001587	stop_gained	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102368104G>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.901G>T	14.37:g.102368104G>T	ENSP00000333905:p.Glu301*					PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000334743.5_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*	p.E332*	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			11	1090	+			301					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Nonsense_Mutation	SNP	ENST00000334743.5	37	c.994G>T	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	37	6.606893	0.97701	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	.	.	.	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.6198	13.7895	0.63131	0.074:0.0:0.926:0.0	.	.	.	.	X	332;356;330;301;199;301;301;301;97	.	ENSP00000329009:E356X	E	+	1	0	PPP2R5C	101437857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	1.221000	0.43506	0.655000	0.94253	GAA		0.443	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		99	407	1	0	1.76565e-42	1	2.15003e-42	99	407				
NICN1	84276	broad.mit.edu	37	3	49463818	49463818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49463818C>A	ENST00000273598.3	-	2	262	c.176G>T	c.(175-177)aGc>aTc	p.S59I	NICN1_ENST00000436744.2_Missense_Mutation_p.S59I|NICN1_ENST00000422593.1_5'UTR|NICN1-AS1_ENST00000424915.1_RNA	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	59						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACACGGATGCTCAAAAAAGC	0.517																																						ENST00000273598.3																			0				kidney(1)|large_intestine(3)|lung(1)	5						c.(175-177)aGc>aTc		nicolin 1							91.0	78.0	82.0					3																	49463818		2203	4300	6503	SO:0001583	missense	84276					microtubule|nucleus		g.chr3:49463818C>A	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.176G>T	3.37:g.49463818C>A	ENSP00000273598:p.Ser59Ile					NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Missense_Mutation_p.S59I	p.S59I	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	262	-			59					Q8IZQ2	Missense_Mutation	SNP	ENST00000273598.3	37	c.176G>T	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114469	0.37339	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.23754	1.89;1.89	5.08	2.15	0.27550	.	0.164124	0.51477	D	0.000081	T	0.23572	0.0570	L	0.38175	1.15	0.36469	D	0.867172	B;B	0.17038	0.02;0.02	B;B	0.23574	0.047;0.031	T	0.16958	-1.0385	10	0.72032	D	0.01	-33.9236	15.564	0.76273	0.0:0.3431:0.6568:0.0	.	59;59	B4DX77;Q9BSH3	.;NICN1_HUMAN	I	59	ENSP00000273598:S59I;ENSP00000402335:S59I	ENSP00000273598:S59I	S	-	2	0	NICN1	49438822	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.786000	0.38694	0.124000	0.18369	0.655000	0.94253	AGC		0.517	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		15	224	1	0	4.7546e-09	1	4.99022e-09	15	224				
LARGE	9215	broad.mit.edu	37	22	33960892	33960892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33960892C>T	ENST00000354992.2	-	7	1300	c.729G>A	c.(727-729)acG>acA	p.T243T	LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000402320.1_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000337431.2_Silent_p.T243T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	243					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGTGATATCCGTGTCAAGGA	0.478																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(727-729)acG>acA		like-glycosyltransferase							144.0	124.0	131.0					22																	33960892		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33960892C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.729G>A	22.37:g.33960892C>T						LARGE_ENST00000402320.1_Silent_p.T243T|LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000397394.2_Silent_p.T243T	p.T243T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			7	1300	-		Lung NSC(1;0.219)	243					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.729G>A	CCDS13912.1																																																																																				0.478	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		76	341	0	0	0	1	0	76	341				
ZCWPW1	55063	broad.mit.edu	37	7	100017440	100017440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100017440C>T	ENST00000398027.2	-	4	342	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	32							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTAGGGCTACAAGGTAACAG	0.468																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(94-96)tGt>tAt		zinc finger, CW type with PWWP domain 1							99.0	90.0	93.0					7																	100017440		1839	4083	5922	SO:0001583	missense	55063						zinc ion binding	g.chr7:100017440C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.95G>A	7.37:g.100017440C>T	ENSP00000381109:p.Cys32Tyr					ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y|ZCWPW1_ENST00000490721.1_5'UTR	p.C32Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			4	342	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		32					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.95G>A	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.889789	0.00060	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.42131	1.0;0.98	4.94	-9.88	0.00467	.	2.370910	0.01566	N	0.020351	T	0.15609	0.0376	N	0.05078	-0.115	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.15037	-1.0451	9	.	.	.	13.2462	2.6278	0.04934	0.1665:0.3516:0.0936:0.3882	.	32;32;32;32	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	Y	32	ENSP00000381109:C32Y;ENSP00000354210:C32Y	.	C	-	2	0	ZCWPW1	99855376	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.939000	0.00684	-2.733000	0.00383	-0.824000	0.03097	TGT		0.468	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		28	418	0	0	0	1	0	28	418				
KCNE2	9992	broad.mit.edu	37	21	35742840	35742840	+	Silent	SNP	T	T	G	rs138954752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35742840T>G	ENST00000290310.3	+	2	203	c.63T>G	c.(61-63)acT>acG	p.T21T	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	21					aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						TTTTTATTACTTATATGGACA	0.433																																						ENST00000290310.2																			0				endometrium(1)|large_intestine(1)	2						c.(61-63)acT>acG		potassium voltage-gated channel, Isk-related family, member 2							99.0	107.0	105.0					21																	35742840		2203	4300	6503	SO:0001819	synonymous_variant	0				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr21:35742840T>G	AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"""Potassium channels"""	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.63T>G	21.37:g.35742840T>G							p.T21T	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN			2	203	+			21					A5H1P3|D3DSF8|Q52LJ5	Silent	SNP	ENST00000290310.3	37	c.63T>G	CCDS13635.1																																																																																				0.433	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2			51	416	0	0	0	1	0	51	416				
MTMR1	8776	broad.mit.edu	37	X	149924229	149924229	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149924229C>A	ENST00000370390.3	+	14	1882	c.1725C>A	c.(1723-1725)ccC>ccA	p.P575P	MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000445323.2_Silent_p.P583P|MTMR1_ENST00000544228.1_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	575	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTAATCCCTTCTTTGTGA	0.343																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1747-1749)ccC>ccA		myotubularin related protein 1							159.0	140.0	147.0					X																	149924229		2203	4300	6503	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149924229C>A	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1725C>A	X.37:g.149924229C>A						MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000370390.3_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P|MTMR1_ENST00000544228.1_Silent_p.P575P	p.P583P			Q13613	MTMR1_HUMAN			15	1870	+	Acute lymphoblastic leukemia(192;6.56e-05)		575			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1749C>A	CCDS14695.1																																																																																				0.343	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		82	235	1	0	9.04243e-43	1	1.10195e-42	82	235				
CAMTA1	23261	broad.mit.edu	37	1	7724340	7724340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724340G>A	ENST00000303635.7	+	9	1940	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	578					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGAGTCCCAGCACCACCCTG	0.672			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1732-1734)aGc>aAc		calmodulin binding transcription activator 1							32.0	38.0	36.0					1																	7724340		2202	4299	6501	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724340G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1733G>A	1.37:g.7724340G>A	ENSP00000306522:p.Ser578Asn					CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	p.S578N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1940	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	578					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1733G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.612615	0.66672	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.39406	1.08;1.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.53249	1.67	0.47245	D	0.999365	D	0.63880	0.993	D	0.70227	0.968	T	0.62845	-0.6768	10	0.62326	D	0.03	-20.1297	18.9116	0.92487	0.0:0.0:1.0:0.0	.	578	Q9Y6Y1	CMTA1_HUMAN	N	578	ENSP00000306522:S578N;ENSP00000402561:S578N	ENSP00000306522:S578N	S	+	2	0	CAMTA1	7646927	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.528000	0.73807	2.488000	0.83962	0.493000	0.49557	AGC		0.672	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		48	391	0	0	0	1	0	48	391				
WDTC1	23038	broad.mit.edu	37	1	27632740	27632740	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27632740C>T	ENST00000319394.3	+	16	2435	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	WDTC1_ENST00000361771.3_Missense_Mutation_p.R633C	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	634					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAACCAGCGGCGCATGAATGC	0.612																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(1900-1902)Cgc>Tgc		WD and tetratricopeptide repeats 1							92.0	81.0	85.0					1																	27632740		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27632740C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1900C>T	1.37:g.27632740C>T	ENSP00000317971:p.Arg634Cys					WDTC1_ENST00000361771.3_Missense_Mutation_p.R633C	p.R634C	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	16	2435	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	634					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.1900C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.145582	0.94603	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.67698	-0.28;-0.27	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78846	-0.2043	10	0.72032	D	0.01	.	17.3843	0.87412	0.0:1.0:0.0:0.0	.	634;633	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	C	634;633	ENSP00000317971:R634C;ENSP00000355317:R633C	ENSP00000317971:R634C	R	+	1	0	WDTC1	27505327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.654000	0.90174	0.655000	0.94253	CGC		0.612	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		86	316	0	0	0	1	0	86	316				
NDRG4	65009	broad.mit.edu	37	16	58538164	58538164	+	Silent	SNP	G	G	A	rs374032396		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58538164G>A	ENST00000570248.1	+	3	340	c.234G>A	c.(232-234)tcG>tcA	p.S78S	NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000394282.4_Silent_p.S130S|NDRG4_ENST00000356752.4_Silent_p.S108S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000566192.1_Silent_p.S78S|NDRG4_ENST00000563799.1_Silent_p.S96S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	78					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGGGGGCGTCGCAGTTTCCTC	0.597																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(388-390)tcG>tcA		NDRG family member 4		G	,,,,,,	0,4396		0,0,2198	97.0	101.0	100.0		390,324,288,234,234,330,330	-10.7	0.4	16		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	,,,,,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	130/392,108/370,96/358,78/353,78/340,110/372,110/372	58538164	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58538164G>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.234G>A	16.37:g.58538164G>A						NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000570248.1_Silent_p.S78S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000563799.1_Silent_p.S96S|NDRG4_ENST00000566192.1_Silent_p.S78S|NDRG4_ENST00000356752.4_Silent_p.S108S	p.S130S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			5	797	+			78					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.390G>A	CCDS58466.1																																																																																				0.597	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			127	617	0	0	0	1	0	127	617				
COX8A	1351	broad.mit.edu	37	11	63742167	63742167	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63742167G>T	ENST00000314133.3	+	1	89	c.15G>T	c.(13-15)acG>acT	p.T5T	AP000721.4_ENST00000535431.1_Silent_p.T5T	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	5					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										CCGTCCTGACGCCGCTGCTGC	0.642																																						ENST00000535431.1																			0											c.(13-15)acG>acT									27.0	28.0	27.0					11																	63742167		2200	4294	6494	SO:0001819	synonymous_variant	0							g.chr11:63742167G>T	J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2294	protein-coding gene	gene with protein product		123870	"""cytochrome c oxidase subunit VIII"", ""cytochrome c oxidase subunit 8A (ubiquitous)"""	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.15G>T	11.37:g.63742167G>T						COX8A_ENST00000314133.3_Silent_p.T5T	p.T5T							1	76	+								P15955	Silent	SNP	ENST00000314133.3	37	c.15G>T	CCDS8054.1																																																																																				0.642	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396273.1	NM_004074		13	77	1	0	1.15088e-07	1	1.19614e-07	13	77				
PCDHA8	56140	broad.mit.edu	37	5	140222350	140222350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140222350G>A	ENST00000531613.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1444-1446)Gcg>Acg									47.0	53.0	51.0					5																	140222350		2195	4261	6456	SO:0001583	missense	0							g.chr5:140222350G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1444G>A	5.37:g.140222350G>A	ENSP00000434655:p.Ala482Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A482T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1444	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1444G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	9.302	1.053320	0.19907	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61859	0.07;0.07	3.72	2.74	0.32292	Cadherin (4);Cadherin-like (1);	0.226336	0.21629	U	0.071513	T	0.49167	0.1541	L	0.48935	1.535	0.09310	N	1	B;B	0.33171	0.187;0.4	B;B	0.36719	0.231;0.226	T	0.49457	-0.8938	10	0.62326	D	0.03	.	8.1567	0.31173	0.0:0.279:0.5938:0.1271	.	482;482	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	482	ENSP00000434655:A482T;ENSP00000367363:A482T	ENSP00000367363:A482T	A	+	1	0	PCDHA8	140202534	0.000000	0.05858	0.911000	0.35937	0.055000	0.15305	-0.225000	0.09151	1.790000	0.52503	0.306000	0.20318	GCG		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		112	582	0	0	0	1	0	112	582				
ZNF425	155054	broad.mit.edu	37	7	148800888	148800888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148800888C>A	ENST00000378061.2	-	4	2207	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	692					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGAAGGGCCTCTCTCCACT	0.562																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(2074-2076)aGg>aTg		zinc finger protein 425							91.0	87.0	89.0					7																	148800888		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148800888C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2075G>T	7.37:g.148800888C>A	ENSP00000367300:p.Arg692Met						p.R692M	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2207	-	Melanoma(164;0.15)		692					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.2075G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071401	0.36566	.	.	ENSG00000204947	ENST00000378061	T	0.20332	2.08	3.44	-1.11	0.09840	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	M	0.84773	2.715	0.24828	N	0.992545	D	0.67145	0.996	P	0.62649	0.905	T	0.26467	-1.0102	9	0.87932	D	0	.	7.8698	0.29558	0.0:0.5338:0.0:0.4662	.	692	Q6IV72	ZN425_HUMAN	M	692	ENSP00000367300:R692M	ENSP00000367300:R692M	R	-	2	0	ZNF425	148431821	0.000000	0.05858	0.065000	0.19835	0.982000	0.71751	-2.517000	0.00954	-0.170000	0.10816	0.655000	0.94253	AGG		0.562	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		45	472	1	0	1.17962e-10	1	1.2527e-10	45	472				
SALL4	57167	broad.mit.edu	37	20	50406812	50406812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406812C>T	ENST00000217086.4	-	2	2321	c.2210G>A	c.(2209-2211)gGt>gAt	p.G737D	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	737					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGGCAGGACCCACTTTCCC	0.597																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2209-2211)gGt>gAt		spalt-like transcription factor 4							50.0	45.0	46.0					20																	50406812		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406812C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2210G>A	20.37:g.50406812C>T	ENSP00000217086:p.Gly737Asp					SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	p.G737D	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	2321	-			737					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2210G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893212	0.17613	.	.	ENSG00000101115	ENST00000217086	T	0.08896	3.04	5.54	0.963	0.19649	.	0.340850	0.21557	N	0.072629	T	0.07413	0.0187	L	0.57536	1.79	0.22081	N	0.999371	B	0.31680	0.335	B	0.27500	0.08	T	0.26155	-1.0111	10	0.34782	T	0.22	-6.1887	5.3879	0.16227	0.1542:0.4621:0.3096:0.0741	.	737	Q9UJQ4	SALL4_HUMAN	D	737	ENSP00000217086:G737D	ENSP00000217086:G737D	G	-	2	0	SALL4	49840219	0.633000	0.27181	0.017000	0.16124	0.356000	0.29392	2.529000	0.45632	0.237000	0.21200	0.561000	0.74099	GGT		0.597	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			22	211	0	0	0	1	0	22	211				
PTPN6	5777	broad.mit.edu	37	12	7066930	7066930	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7066930G>T	ENST00000318974.9	+	10	1432	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q396H	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	396	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTACCTTACAGGTCTCCCCGC	0.607																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(1186-1188)caG>caT		protein tyrosine phosphatase, non-receptor type 6							79.0	84.0	83.0					12																	7066930		2039	4166	6205	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7066930G>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1188G>T	12.37:g.7066930G>T	ENSP00000326010:p.Gln396His					PTPN6_ENST00000318974.9_Missense_Mutation_p.Q396H|PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H	p.Q396H	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			10	1430	+			396			Tyrosine-protein phosphatase.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.1188G>T	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	4.359	0.066189	0.08388	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.08	3.24	0.37175	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.505646	0.20813	N	0.085210	T	0.72179	0.3428	N	0.21282	0.65	0.24333	N	0.994999	B;B;B;B;B	0.21225	0.053;0.002;0.009;0.001;0.003	B;B;B;B;B	0.20184	0.028;0.007;0.011;0.013;0.011	T	0.59096	-0.7518	10	0.42905	T	0.14	.	11.9817	0.53123	0.0:0.3944:0.4492:0.1564	.	384;357;396;396;398	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	H	398;357;396;396	ENSP00000382376:Q398H;ENSP00000415979:Q357H;ENSP00000326010:Q396H;ENSP00000391592:Q396H	ENSP00000326010:Q396H	Q	+	3	2	PTPN6	6937191	0.699000	0.27786	0.827000	0.32855	0.302000	0.27658	0.183000	0.16919	0.171000	0.19730	-1.268000	0.01426	CAG		0.607	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		58	169	1	0	4.33383e-22	1	4.89722e-22	58	169				
SEC31A	22872	broad.mit.edu	37	4	83784500	83784500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83784500C>A	ENST00000395310.2	-	12	1662	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	494					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTCTGTATCCTAGAAGTTCA	0.308																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1480-1482)Gga>Tga		SEC31 homolog A (S. cerevisiae)							98.0	101.0	100.0					4																	83784500		2202	4296	6498	SO:0001587	stop_gained	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83784500C>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1480G>T	4.37:g.83784500C>A	ENSP00000378721:p.Gly494*					SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*	p.G494*			O94979	SC31A_HUMAN			12	1643	-		Hepatocellular(203;0.114)	494					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	37	c.1480G>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.624468|7.624468	0.98396|0.98396	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828;ENST00000512664	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.104337|.	0.64402|.	D|.	0.000003|.	.|T	.|0.76579	.|0.4007	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74999	.|-0.3472	.|3	0.87932|.	D|.	0|.	-3.3031|-3.3031	19.4671|19.4671	0.94946|0.94946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	494;494;494;489;494;494;494;494;494;494;494;494;494;266;494;494;95|136;47	.|.	ENSP00000264405:G266X|.	G|R	-|-	1|2	0|0	SEC31A|SEC31A	84003524|84003524	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.945000|0.945000	0.59286|0.59286	7.818000|7.818000	0.86416|0.86416	2.614000|2.614000	0.88457|0.88457	0.467000|0.467000	0.42956|0.42956	GGA|AGG		0.308	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		17	186	1	0	2.23348e-06	1	2.30073e-06	17	186				
E2F4	1874	broad.mit.edu	37	16	67229844	67229844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229844G>T	ENST00000379378.3	+	7	1027	c.968G>T	c.(967-969)aGc>aTc	p.S323I		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	323	Poly-Ser.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		aacagtaacagcagcagTTCG	0.622																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(967-969)aGc>aTc		E2F transcription factor 4, p107/p130-binding							65.0	67.0	66.0					16																	67229844		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67229844G>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.968G>T	16.37:g.67229844G>T	ENSP00000368686:p.Ser323Ile						p.S323I	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	7	1027	+		Ovarian(137;0.0563)	323			Poly-Ser.		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.968G>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374558	0.11409	.	.	ENSG00000205250	ENST00000379378	D	0.82984	-1.67	3.78	-2.63	0.06133	.	1.239140	0.05425	N	0.544915	T	0.67449	0.2894	N	0.22421	0.69	0.09310	N	0.999998	B	0.12013	0.005	B	0.12156	0.007	T	0.48317	-0.9046	10	0.18710	T	0.47	0.0374	4.3173	0.11000	0.4512:0.3471:0.2017:0.0	.	323	Q16254	E2F4_HUMAN	I	323	ENSP00000368686:S323I	ENSP00000368686:S323I	S	+	2	0	E2F4	65787345	0.006000	0.16342	0.228000	0.23943	0.012000	0.07955	-0.660000	0.05317	-0.452000	0.07087	-0.140000	0.14226	AGC		0.622	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		113	481	1	0	1.12924e-63	1	1.42582e-63	113	481				
PMEPA1	56937	broad.mit.edu	37	20	56227521	56227521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227521G>A	ENST00000341744.3	-	4	771	c.452C>T	c.(451-453)tCg>tTg	p.S151L	PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L|PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	151					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GTCTGACAGCGAGATGGTGGG	0.701																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(451-453)tCg>tTg		prostate transmembrane protein, androgen induced 1							35.0	37.0	36.0					20																	56227521		2203	4300	6503	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227521G>A	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.452C>T	20.37:g.56227521G>A	ENSP00000345826:p.Ser151Leu					PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L|PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L	p.S151L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	771	-			151					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.452C>T	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797080	0.90453	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.53423	0.78;0.8;0.8;0.8;0.8;0.82;0.62	5.43	5.43	0.79202	.	0.140044	0.48767	D	0.000177	T	0.69233	0.3088	M	0.75777	2.31	0.54753	D	0.999989	D;D	0.89917	1.0;0.997	D;P	0.65773	0.938;0.851	T	0.72484	-0.4279	10	0.72032	D	0.01	-23.06	19.2379	0.93869	0.0:0.0:1.0:0.0	.	116;151	Q5JY37;Q969W9	.;PMEPA_HUMAN	L	151;116;101;101;101;123;208	ENSP00000345826:S151L;ENSP00000344014:S116L;ENSP00000379161:S101L;ENSP00000265626:S101L;ENSP00000379159:S101L;ENSP00000401506:S123L;ENSP00000379164:S208L	ENSP00000265626:S101L	S	-	2	0	PMEPA1	55660927	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	7.725000	0.84808	2.537000	0.85549	0.655000	0.94253	TCG		0.701	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		40	119	0	0	0	1	0	40	119				
CEP192	55125	broad.mit.edu	37	18	13059253	13059253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059253C>T	ENST00000325971.8	+	19	4235	c.2642C>T	c.(2641-2643)gCa>gTa	p.A881V	CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V|CEP192_ENST00000506447.1_Missense_Mutation_p.A1477V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	881					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						ATCGTACAGGCAGAAGCTTTG	0.453																																						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.(4429-4431)gCa>gTa		centrosomal protein 192kDa							158.0	146.0	150.0					18																	13059253		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13059253C>T	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.2642C>T	18.37:g.13059253C>T	ENSP00000317156:p.Ala881Val					CEP192_ENST00000325971.8_Missense_Mutation_p.A881V|CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V	p.A1477V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			21	4510	+			1072					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4430C>T		.	.	.	.	.	.	.	.	.	.	C	17.27	3.348313	0.61183	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80033	-1.33;-1.33;-1.33	5.08	5.08	0.68730	.	0.061993	0.64402	D	0.000005	D	0.88355	0.6414	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.989;0.998	P;P;D	0.65233	0.874;0.879;0.933	D	0.89379	0.3680	10	0.72032	D	0.01	-16.2963	18.8382	0.92171	0.0:1.0:0.0:0.0	.	1002;1477;881	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	V	1477;881;881;1002	ENSP00000427550:A1477V;ENSP00000317156:A881V;ENSP00000389190:A1002V	ENSP00000317156:A881V	A	+	2	0	CEP192	13049253	1.000000	0.71417	0.365000	0.25901	0.011000	0.07611	7.223000	0.78033	2.520000	0.84964	0.591000	0.81541	GCA		0.453	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		109	452	0	0	0	1	0	109	452				
FMNL2	114793	broad.mit.edu	37	2	153476145	153476145	+	Missense_Mutation	SNP	G	G	A	rs565900021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153476145G>A	ENST00000288670.9	+	15	2117	c.1750G>A	c.(1750-1752)Gct>Act	p.A584T	FMNL2_ENST00000475377.2_5'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	584	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GACTGTACCAGCTCCTCCCTT	0.642																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1750-1752)Gct>Act		formin-like 2							32.0	32.0	32.0					2																	153476145		1925	4126	6051	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153476145G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1750G>A	2.37:g.153476145G>A	ENSP00000288670:p.Ala584Thr					FMNL2_ENST00000475377.2_5'UTR	p.A584T	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			15	2117	+			584			Pro-rich.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.1750G>A	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934621	0.18206	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.17054	2.3	5.37	4.48	0.54585	Actin-binding FH2 (1);	0.314095	0.30177	N	0.010231	T	0.08088	0.0202	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.26573	-1.0099	10	0.23891	T	0.37	.	9.0604	0.36431	0.0979:0.0:0.9021:0.0	.	584;65;584	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	T	584;65	ENSP00000288670:A584T	ENSP00000288670:A584T	A	+	1	0	FMNL2	153184391	0.999000	0.42202	0.999000	0.59377	0.271000	0.26615	2.815000	0.48018	2.516000	0.84829	0.549000	0.68633	GCT		0.642	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		4	99	0	0	0	1	0	4	99				
PF4	5196	broad.mit.edu	37	4	74846978	74846978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74846978G>A	ENST00000296029.3	-	3	419	c.249C>T	c.(247-249)tgC>tgT	p.C83C		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	83					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	GCAGGTCCAAGCAAATTTTCC	0.448																																						ENST00000296029.3																			0				kidney(1)|lung(1)	2						c.(247-249)tgC>tgT		platelet factor 4	Drotrecogin alfa(DB00055)						84.0	89.0	87.0					4																	74846978		2203	4300	6503	SO:0001819	synonymous_variant	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74846978G>A	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"""chemokine (C-X-C motif) ligand 4"""	173460	"""platelet factor 4"""			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.249C>T	4.37:g.74846978G>A							p.C83C	NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		3	419	-	Breast(15;0.00136)		83					Q53X61|Q9UC64|Q9UC65	Silent	SNP	ENST00000296029.3	37	c.249C>T	CCDS3562.1																																																																																				0.448	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			67	313	0	0	0	1	0	67	313				
LSM11	134353	broad.mit.edu	37	5	157178476	157178476	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157178476T>G	ENST00000286307.5	+	2	583	c.527T>G	c.(526-528)tTc>tGc	p.F176C		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	176	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCGCACTTTCAAGGGACTT	0.512																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(526-528)tTc>tGc		LSM11, U7 small nuclear RNA associated							139.0	132.0	134.0					5																	157178476		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157178476T>G	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.527T>G	5.37:g.157178476T>G	ENSP00000286307:p.Phe176Cys						p.F176C	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	583	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	176			SM 1.		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.527T>G	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796430	0.90453	.	.	ENSG00000155858	ENST00000286307	T	0.41400	1.0	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.141008	0.64402	D	0.000006	T	0.61464	0.2349	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63102	-0.6712	10	0.72032	D	0.01	-16.7964	16.5764	0.84681	0.0:0.0:0.0:1.0	.	176	P83369	LSM11_HUMAN	C	176	ENSP00000286307:F176C	ENSP00000286307:F176C	F	+	2	0	LSM11	157111054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.371000	0.80710	0.533000	0.62120	TTC		0.512	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		104	467	0	0	0	1	0	104	467				
PLIN3	10226	broad.mit.edu	37	19	4847718	4847718	+	Silent	SNP	C	C	T	rs371698315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847718C>T	ENST00000221957.4	-	6	995	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PLIN3_ENST00000592528.1_Silent_p.S261S|PLIN3_ENST00000585479.1_Silent_p.S273S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	273					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTAGGACCTGCGACAGCTGCA	0.657																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(817-819)tcG>tcA		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)	C	,,	0,4396		0,0,2198	22.0	19.0	20.0		819,783,819	-8.8	0.0	19		20	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,	273/434,261/423,273/435	4847718	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4847718C>T	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.819G>A	19.37:g.4847718C>T						PLIN3_ENST00000585479.1_Silent_p.S273S|PLIN3_ENST00000592528.1_Silent_p.S261S	p.S273S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			6	995	-			273					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	ENST00000221957.4	37	c.819G>A	CCDS12137.1																																																																																				0.657	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		13	57	0	0	0	1	0	13	57				
KTI12	112970	broad.mit.edu	37	1	52499330	52499330	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52499330A>G	ENST00000371614.1	-	1	158	c.104T>C	c.(103-105)gTg>gCg	p.V35A	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000610127.1_3'UTR	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	35							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGCGTCGTCCACCACGTACAC	0.687																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(103-105)gTg>gCg		KTI12 homolog, chromatin associated (S. cerevisiae)							23.0	24.0	24.0					1																	52499330		2203	4299	6502	SO:0001583	missense	112970						ATP binding	g.chr1:52499330A>G		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.104T>C	1.37:g.52499330A>G	ENSP00000360676:p.Val35Ala					RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	p.V35A	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	158	-			35						Missense_Mutation	SNP	ENST00000371614.1	37	c.104T>C	CCDS562.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813943	0.50527	.	.	ENSG00000198841	ENST00000371614	T	0.35048	1.33	5.07	5.07	0.68467	.	0.083649	0.47093	U	0.000257	T	0.45013	0.1321	M	0.67517	2.055	0.24520	N	0.994164	P	0.49090	0.919	P	0.49226	0.603	T	0.43343	-0.9397	10	0.44086	T	0.13	.	12.3295	0.55031	1.0:0.0:0.0:0.0	.	35	Q96EK9	KTI12_HUMAN	A	35	ENSP00000360676:V35A	ENSP00000360676:V35A	V	-	2	0	KTI12	52271918	1.000000	0.71417	0.423000	0.26634	0.039000	0.13416	4.761000	0.62243	2.127000	0.65507	0.533000	0.62120	GTG		0.687	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		14	168	0	0	0	1	0	14	168				
PRDM1	639	broad.mit.edu	37	6	106554877	106554877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106554877C>T	ENST00000369096.4	+	7	2228	c.1994C>T	c.(1993-1995)cCt>cTt	p.P665L	PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L|PRDM1_ENST00000369091.2_Missense_Mutation_p.P629L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	665					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAGGTGTGCCCTGCCAAGTTC	0.542			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1993-1995)cCt>cTt		PR domain containing 1, with ZNF domain							115.0	116.0	116.0					6																	106554877		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106554877C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1994C>T	6.37:g.106554877C>T	ENSP00000358092:p.Pro665Leu					PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L|PRDM1_ENST00000369091.2_Missense_Mutation_p.P629L	p.P665L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2228	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	665					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1994C>T	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535259	0.64972	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07216	3.21;3.21;3.21	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.35414	1.06	0.80722	D	1	B;B	0.28128	0.1;0.201	B;B	0.36092	0.155;0.217	T	0.24977	-1.0145	10	0.72032	D	0.01	-14.8534	20.6208	0.99490	0.0:1.0:0.0:0.0	.	531;665	Q86WM7;O75626	.;PRDM1_HUMAN	L	629;665;628;531	ENSP00000358087:P629L;ENSP00000358092:P665L;ENSP00000358085:P531L	ENSP00000358085:P531L	P	+	2	0	PRDM1	106661570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.045000	0.71020	2.882000	0.98803	0.655000	0.94253	CCT		0.542	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			152	646	0	0	0	1	0	152	646				
PCDHGC5	56097	broad.mit.edu	37	5	140870231	140870231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870231C>T	ENST00000252087.1	+	1	1424	c.1424C>T	c.(1423-1425)aCt>aTt	p.T475I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTTGCACTGTGGCTGCC	0.527																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1423-1425)aCt>aTt									128.0	137.0	134.0					5																	140870231		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870231C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1424C>T	5.37:g.140870231C>T	ENSP00000252087:p.Thr475Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.T475I	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1424	+			475			Cadherin 5.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1424C>T	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544687	0.27563	.	.	ENSG00000240764	ENST00000252087	T	0.02446	4.29	5.56	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.06600	0.0169	M	0.74881	2.28	0.34109	D	0.662799	B;B	0.20261	0.043;0.014	B;B	0.23574	0.021;0.047	T	0.02075	-1.1218	10	0.66056	D	0.02	.	14.3616	0.66776	0.0:0.9284:0.0:0.0716	.	475;475	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	I	475	ENSP00000252087:T475I	ENSP00000252087:T475I	T	+	2	0	PCDHGC5	140850415	0.002000	0.14202	0.979000	0.43373	0.982000	0.71751	1.316000	0.33620	1.582000	0.49881	0.655000	0.94253	ACT		0.527	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		192	1011	0	0	0	1	0	192	1011				
SACS	26278	broad.mit.edu	37	13	23905812	23905812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905812C>A	ENST00000382292.3	-	9	12476	c.12203G>T	c.(12202-12204)aGc>aTc	p.S4068I	SACS_ENST00000382298.3_Missense_Mutation_p.S4068I|SACS_ENST00000402364.1_Missense_Mutation_p.S3318I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4068					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCACTTCTGCTGTGGGGAAT	0.353																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12202-12204)aGc>aTc		spastic ataxia of Charlevoix-Saguenay (sacsin)							61.0	60.0	60.0					13																	23905812		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905812C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12203G>T	13.37:g.23905812C>A	ENSP00000371729:p.Ser4068Ile					SACS_ENST00000382292.3_Missense_Mutation_p.S4068I|SACS_ENST00000402364.1_Missense_Mutation_p.S3318I	p.S4068I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12791	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4068					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12203G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335478	0.81801	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89552	-2.38;-2.53;-2.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	L	0.29908	0.895	0.58432	D	0.999999	D	0.71674	0.998	D	0.64687	0.928	D	0.92305	0.5853	10	0.87932	D	0	.	18.9676	0.92702	0.0:1.0:0.0:0.0	.	4068	Q9NZJ4	SACS_HUMAN	I	4068;3318;4068	ENSP00000371729:S4068I;ENSP00000385844:S3318I;ENSP00000371735:S4068I	ENSP00000371729:S4068I	S	-	2	0	SACS	22803812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.754000	0.85163	2.462000	0.83206	0.655000	0.94253	AGC		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		59	222	1	0	4.88506e-25	1	5.59823e-25	59	222				
APOB	338	broad.mit.edu	37	2	21229127	21229127	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229127A>C	ENST00000233242.1	-	26	10740	c.10613T>G	c.(10612-10614)aTt>aGt	p.I3538S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3538					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATATCATCAATTTTGGAAGT	0.433																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10612-10614)aTt>aGt		apolipoprotein B	Atorvastatin(DB01076)						102.0	107.0	105.0					2																	21229127		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229127A>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10613T>G	2.37:g.21229127A>C	ENSP00000233242:p.Ile3538Ser						p.I3538S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10740	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3538					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10613T>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456899	0.26161	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.78595	-1.19	5.85	4.64	0.57946	.	0.838313	0.10117	N	0.713988	T	0.65883	0.2734	N	0.22421	0.69	0.34222	D	0.675498	B	0.29378	0.243	B	0.25987	0.065	T	0.67264	-0.5714	10	0.87932	D	0	.	8.7714	0.34735	0.7795:0.0:0.2205:0.0	.	3538	P04114	APOB_HUMAN	S	3538	ENSP00000233242:I3538S	ENSP00000233242:I3538S	I	-	2	0	APOB	21082632	0.000000	0.05858	0.010000	0.14722	0.345000	0.29048	0.656000	0.24948	0.964000	0.38108	0.533000	0.62120	ATT		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			173	549	0	0	0	1	0	173	549				
LRRC8B	23507	broad.mit.edu	37	1	90048877	90048877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90048877C>T	ENST00000330947.2	+	5	1028	c.668C>T	c.(667-669)tCc>tTc	p.S223F	LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	223					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGCCCAACTTCCAGTGTCCTG	0.488																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(667-669)tCc>tTc		leucine rich repeat containing 8 family, member B							59.0	62.0	61.0					1																	90048877		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90048877C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.668C>T	1.37:g.90048877C>T	ENSP00000332674:p.Ser223Phe					RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F	p.S223F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	1028	+		all_lung(203;0.17)	223					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.668C>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724491	0.68959	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.38240	1.15;1.15;1.15	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.44542	1.39	0.58432	D	0.999998	D	0.65815	0.995	P	0.56278	0.795	T	0.03597	-1.1021	9	.	.	.	.	19.0782	0.93171	0.0:1.0:0.0:0.0	.	223	Q6P9F7	LRC8B_HUMAN	F	223	ENSP00000332674:S223F;ENSP00000350933:S223F;ENSP00000400704:S223F	.	S	+	2	0	LRRC8B	89821465	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.729000	0.68538	2.572000	0.86782	0.655000	0.94253	TCC		0.488	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		68	209	0	0	0	1	0	68	209				
SNX13	23161	broad.mit.edu	37	7	17838675	17838675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17838675G>T	ENST00000409389.1	-	23	2606	c.2434C>A	c.(2434-2436)Ctt>Att	p.L812I	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.L801I			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	812					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGCTGTTGAAGTAGGTTTTTG	0.363																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2434-2436)Ctt>Att		sorting nexin 13							181.0	168.0	172.0					7																	17838675		1841	4083	5924	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17838675G>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2434C>A	7.37:g.17838675G>T	ENSP00000386705:p.Leu812Ile					SNX13_ENST00000428135.3_Missense_Mutation_p.L801I|SNX13_ENST00000496855.1_5'UTR	p.L812I			Q9Y5W8	SNX13_HUMAN			23	2606	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		812					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2434C>A		.	.	.	.	.	.	.	.	.	.	G	33	5.239787	0.95240	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.35789	1.29;1.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.75264	2.295	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.996	D;D;D	0.68943	0.961;0.941;0.929	T	0.58335	-0.7654	10	0.39692	T	0.17	-15.0832	19.8167	0.96571	0.0:0.0:1.0:0.0	.	598;812;801	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	I	812;801;849	ENSP00000386705:L812I;ENSP00000398789:L801I	ENSP00000242044:L849I	L	-	1	0	SNX13	17805200	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.330000	0.96422	2.679000	0.91253	0.563000	0.77884	CTT		0.363	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		55	272	1	0	9.55421e-19	1	1.06232e-18	55	272				
OLFML2A	169611	broad.mit.edu	37	9	127549269	127549269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127549269G>T	ENST00000373580.3	+	2	106	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	36					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGGGACCTGGACCAGGTGAG	0.647																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(106-108)Gac>Tac		olfactomedin-like 2A							78.0	85.0	83.0					9																	127549269		2019	4177	6196	SO:0001583	missense	169611							g.chr9:127549269G>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.106G>T	9.37:g.127549269G>T	ENSP00000362682:p.Asp36Tyr						p.D36Y	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	106	+			36					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.106G>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613585	0.87359	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.52754	0.65;0.65	5.73	5.73	0.89815	.	0.109377	0.64402	D	0.000008	T	0.69762	0.3147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.94	T	0.72204	-0.4361	10	0.87932	D	0	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	36;36	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	Y	36	ENSP00000336425:D36Y;ENSP00000362682:D36Y	ENSP00000336425:D36Y	D	+	1	0	OLFML2A	126589090	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.587000	0.82613	2.699000	0.92147	0.655000	0.94253	GAC		0.647	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		138	642	1	0	6.46734e-63	1	8.15608e-63	138	642				
COL5A2	1290	broad.mit.edu	37	2	189901341	189901341	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189901341C>T	ENST00000374866.3	-	52	4388		c.e52+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TATTAAATTACCTGAGACCCT	0.328																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.e52+1		collagen, type V, alpha 2							57.0	54.0	55.0					2																	189901341		2203	4298	6501	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189901341C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4113+1G>A	2.37:g.189901341C>T								NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		52	4388	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37		CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832870	0.91036	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189609586	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	.		0.328	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	48	153	0	0	0	1	0	48	153				
OR11G2	390439	broad.mit.edu	37	14	20666038	20666038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666038C>A	ENST00000357366.3	+	1	544	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTACCAATCTTGTGGTCAA	0.443																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(544-546)Ctt>Att		olfactory receptor, family 11, subfamily G, member 2							112.0	94.0	100.0					14																	20666038		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666038C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.544C>A	14.37:g.20666038C>A	ENSP00000349930:p.Leu182Ile						p.L182I	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	544	+	all_cancers(95;0.00108)		182					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.544C>A	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308375	0.23821	.	.	ENSG00000196832	ENST00000357366	T	0.39056	1.1	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000814	T	0.65165	0.2665	M	0.85945	2.785	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.60342	-0.7282	10	0.62326	D	0.03	.	10.6449	0.45615	0.0:0.9109:0.0:0.0891	.	182	Q8NGC1	O11G2_HUMAN	I	182	ENSP00000349930:L182I	ENSP00000349930:L182I	L	+	1	0	OR11G2	19735878	0.001000	0.12720	0.099000	0.21106	0.002000	0.02628	-0.184000	0.09698	2.565000	0.86533	0.650000	0.86243	CTT		0.443	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			46	271	1	0	6.08268e-21	1	6.83416e-21	46	271				
LRG1	116844	broad.mit.edu	37	19	4538016	4538016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4538016G>A	ENST00000306390.6	-	2	1440	c.980C>T	c.(979-981)aCg>aTg	p.T327M	PLIN5_ENST00000586133.1_5'Flank|LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	327	LRRCT.				brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACAGCGCGTGTCATTCTG	0.592																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(979-981)aCg>aTg		leucine-rich alpha-2-glycoprotein 1							50.0	47.0	48.0					19																	4538016		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538016G>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.980C>T	19.37:g.4538016G>A	ENSP00000302621:p.Thr327Met					CTB-50L17.14_ENST00000586020.1_Intron	p.T327M	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1440	-		Hepatocellular(1079;0.137)	327			LRRCT.		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.980C>T	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883464	0.51908	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02446	4.29	5.15	5.15	0.70609	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41097	D	0.000958	T	0.12944	0.0314	M	0.72479	2.2	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.01675	-1.1298	10	0.49607	T	0.09	-19.7871	13.9796	0.64297	0.0:0.0:1.0:0.0	.	327	P02750	A2GL_HUMAN	M	327;310	ENSP00000302621:T327M	ENSP00000302621:T327M	T	-	2	0	LRG1	4489016	0.378000	0.25114	0.093000	0.20910	0.042000	0.13812	3.111000	0.50360	2.685000	0.91497	0.591000	0.81541	ACG		0.592	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		57	291	0	0	0	1	0	57	291				
MRGPRX1	259249	broad.mit.edu	37	11	18955973	18955973	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18955973C>T	ENST00000302797.3	-	1	583	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	120					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGACAGGCAGCGCTCGGTGCT	0.587																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(358-360)cGc>cAc		MAS-related GPR, member X1							94.0	86.0	89.0					11																	18955973		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955973C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.359G>A	11.37:g.18955973C>T	ENSP00000305766:p.Arg120His					MRGPRX1_ENST00000526914.1_5'UTR	p.R120H	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	583	-			120					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.359G>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.228404	0.79576	.	.	ENSG00000170255	ENST00000302797	D	0.97161	-4.27	2.28	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	D	0.97754	0.9263	M	0.93150	3.385	0.24603	N	0.993768	D	0.56968	0.978	P	0.56398	0.797	D	0.94314	0.7548	10	0.87932	D	0	.	6.9697	0.24642	0.0:0.6113:0.0:0.3887	.	120	Q96LB2	MRGX1_HUMAN	H	120	ENSP00000305766:R120H	ENSP00000305766:R120H	R	-	2	0	MRGPRX1	18912549	0.057000	0.20700	0.039000	0.18376	0.683000	0.39861	1.610000	0.36869	-0.258000	0.09446	0.491000	0.48974	CGC		0.587	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		110	505	0	0	0	1	0	110	505				
ANK2	287	broad.mit.edu	37	4	114264287	114264287	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114264287C>T	ENST00000357077.4	+	34	4290	c.4237C>T	c.(4237-4239)Cta>Tta	p.L1413L	ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000510275.2_Silent_p.L65L|ANK2_ENST00000509550.1_Silent_p.L589L|ANK2_ENST00000264366.6_Silent_p.L1380L|ANK2_ENST00000394537.3_Silent_p.L1413L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1413	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGACTTCCTCTATTTGTCAA	0.328																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4237-4239)Cta>Tta		ankyrin 2, neuronal							114.0	112.0	113.0					4																	114264287		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114264287C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4237C>T	4.37:g.114264287C>T						ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000394537.3_Silent_p.L1413L|ANK2_ENST00000509550.1_Silent_p.L589L|ANK2_ENST00000510275.2_Silent_p.L65L|ANK2_ENST00000264366.6_Silent_p.L1380L	p.L1413L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	34	4290	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1380					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.4237C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	7.665	0.685802	0.14973	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.5	4.66	0.58398	.	.	.	.	.	T	0.59622	0.2207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	.	9.0002	0.36077	0.0:0.7784:0.0:0.2216	.	.	.	.	F	425	.	.	S	+	2	0	ANK2	114483736	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.770000	0.47662	1.321000	0.45227	-0.143000	0.13931	TCT		0.328	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		50	229	0	0	0	1	0	50	229				
FNDC1	84624	broad.mit.edu	37	6	159644586	159644586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159644586G>A	ENST00000297267.9	+	7	993	c.793G>A	c.(793-795)Gac>Aac	p.D265N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	265	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TGTACCTGACGACATCAGCGT	0.483																																						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.(793-795)Gac>Aac		fibronectin type III domain containing 1							160.0	154.0	156.0					6																	159644586		2030	4199	6229	SO:0001583	missense	84624					extracellular region		g.chr6:159644586G>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.793G>A	6.37:g.159644586G>A	ENSP00000297267:p.Asp265Asn					FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N|FNDC1_ENST00000480856.1_3'UTR	p.D265N	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)	7	993	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	265			Fibronectin type-III 3.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.793G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.315|7.315	0.615763|0.615763	0.14129|0.14129	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.52057|.	0.68;0.68|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61974|0.61974	0.2390|0.2390	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.55218|0.55218	-0.8175|-0.8175	10|5	0.24483|.	T|.	0.36|.	-40.2157|-40.2157	20.3242|20.3242	0.98691|0.98691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	265;265|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	N|Q	265|223	ENSP00000297267:D265N;ENSP00000342460:D265N|.	ENSP00000297267:D265N|.	D|R	+|+	1|2	0|0	FNDC1|FNDC1	159564574|159564574	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.087000|0.087000	0.18053|0.18053	9.055000|9.055000	0.93873|0.93873	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		22	119	0	0	0	1	0	22	119				
PEX19	5824	broad.mit.edu	37	1	160253413	160253413	+	Silent	SNP	G	G	A	rs141911166	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160253413G>A	ENST00000368072.5	-	2	108	c.87C>T	c.(85-87)ttC>ttT	p.F29F	DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	29	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTTTATCGAAATCATCAA	0.532													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18595	0.0		0.0	False		,,,				2504	0.0					ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(85-87)ttC>ttT		peroxisomal biogenesis factor 19		G	,	5,4401	9.9+/-24.2	0,5,2198	81.0	75.0	77.0		87,87	1.1	1.0	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PEX19	NM_001193644.1,NM_002857.3	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	29/280,29/300	160253413	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5824							g.chr1:160253413G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.87C>T	1.37:g.160253413G>A						PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR	p.F29F	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		2	108	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	37	c.87C>T	CCDS1201.1																																																																																				0.532	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		86	200	0	0	0	1	0	86	200				
C2CD2L	9854	broad.mit.edu	37	11	118984415	118984415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984415C>T	ENST00000528586.1	+	7	796	c.726C>T	c.(724-726)agC>agT	p.S242S	C2CD2L_ENST00000336702.3_Silent_p.S494S			O14523	C2C2L_HUMAN	C2CD2-like	494						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCCCATAGCAGCAGCCGTG	0.597																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1480-1482)agC>agT		C2CD2-like							91.0	89.0	90.0					11																	118984415		2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118984415C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.726C>T	11.37:g.118984415C>T						C2CD2L_ENST00000528586.1_Silent_p.S242S	p.S494S	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			11	1841	+			494					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.1482C>T																																																																																					0.597	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		70	351	0	0	0	1	0	70	351				
DNASE1L3	1776	broad.mit.edu	37	3	58183663	58183663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58183663C>T	ENST00000394549.2	-	6	905	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V197I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	197					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TTCTTGGGGACGTAGCTGCAG	0.512																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(589-591)Gtc>Atc		deoxyribonuclease I-like 3							91.0	87.0	89.0					3																	58183663		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58183663C>T	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.589G>A	3.37:g.58183663C>T	ENSP00000378053:p.Val197Ile					DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V197I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I	p.V197I			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	8	1170	-			197					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.589G>A	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553054	0.86127	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.25	4.38	0.52667	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000003	T	0.73329	0.3573	M	0.90759	3.145	0.49299	D	0.999778	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79964	-0.1581	10	0.72032	D	0.01	.	14.0276	0.64594	0.0:0.9276:0.0:0.0724	.	167;197;197	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	I	167;197;197;197;71;197	ENSP00000419052:V167I;ENSP00000316193:V197I;ENSP00000417047:V197I;ENSP00000417976:V71I;ENSP00000378053:V197I	ENSP00000316193:V197I	V	-	1	0	DNASE1L3	58158703	0.805000	0.28982	0.965000	0.40720	0.994000	0.84299	1.597000	0.36729	1.461000	0.47929	0.591000	0.81541	GTC		0.512	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		42	195	0	0	0	1	0	42	195				
GCNT1	2650	broad.mit.edu	37	9	79118164	79118164	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79118164C>T	ENST00000376730.4	+	4	1350	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000536223.1_Silent_p.F289F|GCNT1_ENST00000442371.1_Silent_p.F289F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	289	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.F289F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCCTACTTCGTGGTCAGTA	0.458																																						ENST00000442371.1																			1	Substitution - coding silent(1)	p.F289F(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(865-867)ttC>ttT		glucosaminyl (N-acetyl) transferase 1, core 2							113.0	97.0	102.0					9																	79118164		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118164C>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.867C>T	9.37:g.79118164C>T						GCNT1_ENST00000536223.1_Silent_p.F289F|GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000376730.4_Silent_p.F289F	p.F289F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1806	+			289			Catalytic (By similarity).		Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.867C>T	CCDS6653.1																																																																																				0.458	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		103	409	0	0	0	1	0	103	409				
CLGN	1047	broad.mit.edu	37	4	141316994	141316994	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141316994C>A	ENST00000325617.5	-	10	1568	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	CLGN_ENST00000537281.1_Silent_p.L376L|CLGN_ENST00000414773.1_Silent_p.L376L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	376					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATTATCGACCAGTGGAGGTC	0.378																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1126-1128)ctG>ctT		calmegin							103.0	97.0	99.0					4																	141316994		2203	4300	6503	SO:0001819	synonymous_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141316994C>A	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1128G>T	4.37:g.141316994C>A						CLGN_ENST00000537281.1_Silent_p.L376L|CLGN_ENST00000414773.1_Silent_p.L376L	p.L376L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			10	1568	-	all_hematologic(180;0.162)		376					B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	c.1128G>T	CCDS3751.1																																																																																				0.378	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		59	302	1	0	1.8515e-17	1	2.0452e-17	59	302				
TRIM22	10346	broad.mit.edu	37	11	5730696	5730696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5730696C>T	ENST00000379965.3	+	8	1592	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	439	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TATGGCTGTGCCTCCCTGTCG	0.438																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(1315-1317)Cct>Tct		tripartite motif containing 22							101.0	108.0	106.0					11																	5730696		2201	4297	6498	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730696C>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1315C>T	11.37:g.5730696C>T	ENSP00000369299:p.Pro439Ser					TRIM5_ENST00000380027.1_Intron	p.P439S	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1592	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	439			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.1315C>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957176	0.53293	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.68331	-0.32	3.88	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78604	0.4309	M	0.75264	2.295	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.65294	-0.6203	9	0.34782	T	0.22	.	9.8691	0.41164	0.0:0.8923:0.0:0.1077	.	361;435;439	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	S	439;250;361	ENSP00000369299:P439S	ENSP00000369299:P439S	P	+	1	0	TRIM22	5687272	0.000000	0.05858	0.008000	0.14137	0.539000	0.34962	0.139000	0.16036	0.939000	0.37446	0.467000	0.42956	CCT		0.438	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		24	647	0	0	0	1	0	24	647				
SYCP2	10388	broad.mit.edu	37	20	58441414	58441414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441414G>A	ENST00000357552.3	-	41	4479	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	SYCP2_ENST00000371001.2_Silent_p.I1418I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1418					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GCTCCTCTATGATAATGAATT	0.244																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(4252-4254)atC>atT		synaptonemal complex protein 2							31.0	36.0	34.0					20																	58441414		2126	4234	6360	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58441414G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4254C>T	20.37:g.58441414G>A						SYCP2_ENST00000371001.2_Silent_p.I1418I	p.I1418I			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		41	4479	-	all_lung(29;0.00344)		1418					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.4254C>T	CCDS13482.1																																																																																				0.244	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		31	155	0	0	0	1	0	31	155				
ST6GALNAC6	30815	broad.mit.edu	37	9	130653219	130653219	+	Missense_Mutation	SNP	C	C	T	rs200500949		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130653219C>T	ENST00000373146.1	-	5	580	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	134					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCATTCATGCGGATTGTACA	0.612																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(400-402)cGc>cAc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							96.0	85.0	89.0					9																	130653219		2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653219C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.401G>A	9.37:g.130653219C>T	ENSP00000362239:p.Arg134His					ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H	p.R134H			Q969X2	SIA7F_HUMAN			5	580	-			134					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.401G>A	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.455743	0.84209	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.71	4.81	0.61882	.	0.049182	0.85682	D	0.000000	D	0.85557	0.5724	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89003	0.3423	10	0.87932	D	0	-20.5999	13.3597	0.60648	0.0:0.9233:0.0:0.0767	.	100;134	Q969X2-2;Q969X2	.;SIA7F_HUMAN	H	134;100;134;100;134;100	ENSP00000362239:R134H;ENSP00000362234:R100H;ENSP00000362235:R134H;ENSP00000362237:R100H;ENSP00000291839:R134H;ENSP00000405326:R100H	ENSP00000291839:R134H	R	-	2	0	ST6GALNAC6	129693040	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.371000	0.79600	1.424000	0.47217	0.651000	0.88453	CGC		0.612	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		22	237	0	0	0	1	0	22	237				
CENPF	1063	broad.mit.edu	37	1	214815450	214815450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214815450G>T	ENST00000366955.3	+	12	3937	c.3769G>T	c.(3769-3771)Gaa>Taa	p.E1257*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCAGTCACAAGAAATTAGTGG	0.413																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(3769-3771)Gaa>Taa		centromere protein F, 350/400kDa							49.0	49.0	49.0					1																	214815450		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815450G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3769G>T	1.37:g.214815450G>T	ENSP00000355922:p.Glu1257*						p.E1257*	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3937	+			1338					Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.3769G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	41	8.554706	0.98861	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.16	5.16	0.70880	.	0.195742	0.25313	N	0.031574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.3469	0.49565	0.0836:0.0:0.9164:0.0	.	.	.	.	X	1257	.	ENSP00000355922:E1257X	E	+	1	0	CENPF	212882073	0.660000	0.27420	0.877000	0.34402	0.312000	0.27988	2.472000	0.45136	2.414000	0.81942	0.511000	0.50034	GAA		0.413	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		52	297	1	0	4.1673e-28	1	4.84001e-28	52	297				
GLB1L	79411	broad.mit.edu	37	2	220107551	220107551	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220107551G>T	ENST00000295759.7	-	4	642	c.329C>A	c.(328-330)gCt>gAt	p.A110D	GLB1L_ENST00000497855.1_5'Flank|STK16_ENST00000409638.3_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000396738.2_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	110					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGCTAGAGCTGCCTCATT	0.507																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(328-330)gCt>gAt		galactosidase, beta 1-like							109.0	111.0	110.0					2																	220107551		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220107551G>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.329C>A	2.37:g.220107551G>T	ENSP00000295759:p.Ala110Asp					GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D|GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D	p.A110D			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	642	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	110					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.329C>A	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.28|10.28	1.307833|1.307833	0.23821|0.23821	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427|ENST00000440853	D;D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68;-4.68|.	6.17|6.17	5.28|5.28	0.74379|0.74379	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.431035|.	0.27048|.	N|.	0.021181|.	T|T	0.45094|0.45094	0.1325|0.1325	L|L	0.45285|0.45285	1.41|1.41	0.09310|0.09310	N|N	1|1	B;B|.	0.31548|.	0.328;0.004|.	B;B|.	0.27380|.	0.079;0.009|.	T|T	0.34850|0.34850	-0.9812|-0.9812	10|5	0.30854|.	T|.	0.27|.	0.3606|0.3606	14.0998|14.0998	0.65046|0.65046	0.0:0.0:0.6995:0.3005|0.0:0.0:0.6995:0.3005	.|.	110;110|.	Q6UWU2-2;Q6UWU2|.	.;GLB1L_HUMAN|.	D|I	110|43	ENSP00000295759:A110D;ENSP00000386354:A110D;ENSP00000375939:A110D;ENSP00000348628:A110D;ENSP00000400738:A110D|.	ENSP00000295759:A110D|.	A|L	-|-	2|1	0|0	GLB1L|GLB1L	219815795|219815795	0.338000|0.338000	0.24775|0.24775	0.057000|0.057000	0.19452|0.19452	0.869000|0.869000	0.49853|0.49853	3.374000|3.374000	0.52402|0.52402	1.564000|1.564000	0.49628|0.49628	0.655000|0.655000	0.94253|0.94253	GCT|CTC		0.507	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		139	416	1	0	3.54119e-60	1	4.4507e-60	139	416				
PRDM11	56981	broad.mit.edu	37	11	45246288	45246288	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45246288T>C	ENST00000530656.1	+	7	1365	c.1365T>C	c.(1363-1365)gtT>gtC	p.V455V	PRDM11_ENST00000263765.4_Silent_p.V455V|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Silent_p.V421V|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	455							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGAAGGTTCGGGAGCTCC	0.547																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1363-1365)gtT>gtC		PR domain containing 11							178.0	189.0	185.0					11																	45246288		2203	4299	6502	SO:0001819	synonymous_variant	56981							g.chr11:45246288T>C	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1365T>C	11.37:g.45246288T>C						CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Silent_p.V455V|PRDM11_ENST00000424263.2_Silent_p.V421V	p.V455V			Q9NQV5	PRD11_HUMAN			8	1614	+			455					Q8N9F1	Silent	SNP	ENST00000530656.1	37	c.1365T>C																																																																																					0.547	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		280	1240	0	0	0	1	0	280	1240				
EFR3A	23167	broad.mit.edu	37	8	132952824	132952824	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132952824T>C	ENST00000254624.5	+	2	312		c.e2+2		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GATCCAAAAGTAATTTGATCT	0.428																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.e2+2		EFR3 homolog A (S. cerevisiae)							74.0	78.0	76.0					8																	132952824		2122	4249	6371	SO:0001630	splice_region_variant	23167					plasma membrane	binding	g.chr8:132952824T>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.87+2T>C	8.37:g.132952824T>C						EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site		NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		2	312	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)							A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Splice_Site	SNP	ENST00000254624.5	37		CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701431	0.88924	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5597	0.76234	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFR3A	133022006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.269000	0.75478	0.454000	0.30748	.		0.428	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	Intron	9	61	0	0	0	1	0	9	61				
ST3GAL1	6482	broad.mit.edu	37	8	134478233	134478233	+	Missense_Mutation	SNP	G	G	A	rs199925387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134478233G>A	ENST00000319914.5	-	5	1434	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCAGCCCACCGACCTCTTCTC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.0					ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(406-408)tCg>tTg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							80.0	79.0	79.0					8																	134478233		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134478233G>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.407C>T	8.37:g.134478233G>A	ENSP00000318445:p.Ser136Leu					ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L	p.S136L			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		5	1434	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		136					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.407C>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	6.970	0.549021	0.13312	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.30714	2.16;2.16;2.16;2.16;1.52;1.52	4.7	1.27	0.21489	.	0.299822	0.36409	N	0.002613	T	0.12774	0.0310	N	0.04275	-0.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	10	0.34782	T	0.22	-17.8018	8.7121	0.34389	0.2966:0.0:0.7034:0.0	.	136	Q11201	SIA4A_HUMAN	L	136;136;136;136;6;6	ENSP00000318445:S136L;ENSP00000414073:S136L;ENSP00000428540:S136L;ENSP00000430515:S136L;ENSP00000429638:S6L;ENSP00000427720:S6L	ENSP00000318445:S136L	S	-	2	0	ST3GAL1	134547415	0.001000	0.12720	0.022000	0.16811	0.379000	0.30106	0.974000	0.29436	0.010000	0.14839	-0.254000	0.11334	TCG		0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		77	333	0	0	0	1	0	77	333				
FNDC9	408263	broad.mit.edu	37	5	156770491	156770491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156770491C>T	ENST00000312349.4	-	2	241	c.54G>A	c.(52-54)tcG>tcA	p.S18S	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	18	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCTCCGAGGACGACCAGGAGA	0.502																																						ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(52-54)tcG>tcA		fibronectin type III domain containing 9							67.0	67.0	67.0					5																	156770491		2203	4300	6503	SO:0001819	synonymous_variant	408263					integral to membrane		g.chr5:156770491C>T	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.54G>A	5.37:g.156770491C>T						CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron	p.S18S	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	241	-			18			Fibronectin type-III.		A8K0Y6	Silent	SNP	ENST00000312349.4	37	c.54G>A	CCDS4337.1																																																																																				0.502	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		46	202	0	0	0	1	0	46	202				
HSF1	3297	broad.mit.edu	37	8	145512876	145512876	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145512876C>T	ENST00000528838.1	+	0	0				BOP1_ENST00000529231.1_5'UTR|BOP1_ENST00000307404.5_Missense_Mutation_p.S70N	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1						cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ATCCTCACTGCTGTCACTGCC	0.597																																						ENST00000307404.5																			0				lung(1)|urinary_tract(2)	3						c.(208-210)aGc>aAc		block of proliferation 1							134.0	117.0	123.0					8																	145512876		2203	4300	6503	SO:0001631	upstream_gene_variant	23246				cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding	g.chr8:145512876C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604		8.37:g.145512876C>T	Exception_encountered					BOP1_ENST00000529231.1_5'UTR	p.S70N	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)		2	238	-	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		70					A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.209G>A	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.500081	0.44455	.	.	ENSG00000170727	ENST00000307404	T	0.38887	1.11	4.85	3.0	0.34707	.	1.415430	0.04521	U	0.384663	T	0.27765	0.0683	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.05566	-1.0877	10	0.17832	T	0.49	-0.1411	8.4871	0.33078	0.0:0.7508:0.1601:0.0891	.	70	Q14137	BOP1_HUMAN	N	70	ENSP00000304151:S70N	ENSP00000304151:S70N	S	-	2	0	BOP1	145483684	0.349000	0.24870	0.212000	0.23672	0.959000	0.62525	0.448000	0.21726	0.537000	0.28751	0.655000	0.94253	AGC		0.597	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		68	384	0	0	0	1	0	68	384				
DIDO1	11083	broad.mit.edu	37	20	61542721	61542721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542721G>A	ENST00000266070.4	-	3	569	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	82					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGCGGCGCCGCGCAATGGTC	0.711																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(244-246)Cgg>Tgg		death inducer-obliterator 1							28.0	28.0	28.0					20																	61542721		2201	4297	6498	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542721G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.244C>T	20.37:g.61542721G>A	ENSP00000266070:p.Arg82Trp					DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W	p.R82W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	569	-	Breast(26;5.68e-08)		82					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.244C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805430	0.50315	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.26223	2.58;2.58;2.27;2.27;1.75;1.75;1.75;1.77;1.77	5.83	3.76	0.43208	.	0.000000	0.38663	U	0.001609	T	0.49133	0.1539	M	0.72118	2.19	0.38829	D	0.955809	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.55309	-0.8161	10	0.87932	D	0	-23.3203	13.2476	0.60031	0.0:0.0:0.5804:0.4196	.	82;82;82;82	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	W	82	ENSP00000266070:R82W;ENSP00000378752:R82W;ENSP00000378749:R82W;ENSP00000378744:R82W;ENSP00000359397:R82W;ENSP00000359394:R82W;ENSP00000346692:R82W;ENSP00000359391:R82W;ENSP00000266071:R82W	ENSP00000266070:R82W	R	-	1	2	DIDO1	61013166	0.997000	0.39634	0.016000	0.15963	0.030000	0.12068	3.413000	0.52686	0.774000	0.33427	0.655000	0.94253	CGG		0.711	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		45	178	0	0	0	1	0	45	178				
GABRA5	2558	broad.mit.edu	37	15	27185111	27185111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185111G>T	ENST00000335625.5	+	9	1652	c.764G>T	c.(763-765)aGg>aTg	p.R255M	GABRA5_ENST00000400081.3_Missense_Mutation_p.R255M|GABRA5_ENST00000355395.5_Missense_Mutation_p.R255M|GABRB3_ENST00000541819.2_5'Flank	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	255					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CACCTGAAAAGGAAGATTGGC	0.488																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(763-765)aGg>aTg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						139.0	139.0	139.0					15																	27185111		2023	4185	6208	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185111G>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.764G>T	15.37:g.27185111G>T	ENSP00000335592:p.Arg255Met					GABRA5_ENST00000400081.3_Missense_Mutation_p.R255M|GABRA5_ENST00000355395.5_Missense_Mutation_p.R255M	p.R255M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	9	1652	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	255					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.764G>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744855	0.89663	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.96830	-4.14;-4.14;-4.14	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99449	1.0940	10	0.87932	D	0	.	17.9859	0.89156	0.0:0.0:1.0:0.0	.	255	P31644	GBRA5_HUMAN	M	255	ENSP00000335592:R255M;ENSP00000347557:R255M;ENSP00000382953:R255M	ENSP00000335592:R255M	R	+	2	0	GABRA5	24767857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.592000	0.98245	2.491000	0.84063	0.561000	0.74099	AGG		0.488	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			44	186	1	0	1.00776e-21	1	1.13667e-21	44	186				
XAB2	56949	broad.mit.edu	37	19	7693095	7693095	+	Silent	SNP	G	G	A	rs574034608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7693095G>A	ENST00000358368.4	-	2	178	c.141C>T	c.(139-141)ggC>ggT	p.G47G	PET100_ENST00000601406.1_5'Flank|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.G44G	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	47					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTTCGGGGCGCCCTGTTTGA	0.612								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	1	0.000199681	0.0	0.0	5008	,	,		18142	0.0		0.0	False		,,,				2504	0.001					ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(139-141)ggC>ggT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							83.0	74.0	77.0					19																	7693095		2202	4300	6502	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7693095G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.141C>T	19.37:g.7693095G>A						XAB2_ENST00000534844.1_Silent_p.G44G	p.G47G	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			2	178	-			47					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.141C>T	CCDS32892.1																																																																																				0.612	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		51	202	0	0	0	1	0	51	202				
TEX37	200523	broad.mit.edu	37	2	88828668	88828668	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88828668A>G	ENST00000303254.3	+	4	361	c.219A>G	c.(217-219)agA>agG	p.R73R		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	73						nucleus (GO:0005634)											CTTTCAAAAGACCCCACATGA	0.567																																						ENST00000303254.3																			0											c.(217-219)agA>agG		testis expressed 37							113.0	107.0	109.0					2																	88828668		2203	4300	6503	SO:0001819	synonymous_variant	200523							g.chr2:88828668A>G	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.219A>G	2.37:g.88828668A>G							p.R73R	NM_152670.2	NP_689883.1					4	361	+									Silent	SNP	ENST00000303254.3	37	c.219A>G	CCDS2003.1																																																																																				0.567	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		87	442	0	0	0	1	0	87	442				
TUBGCP6	85378	broad.mit.edu	37	22	50664719	50664719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50664719G>A	ENST00000248846.5	-	8	1794	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	TUBGCP6_ENST00000491449.1_5'Flank|TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R564*			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	564					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCTACCTCGGAAGCTGAGG	0.617																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(1690-1692)Cga>Tga		tubulin, gamma complex associated protein 6							77.0	68.0	71.0					22																	50664719		2203	4300	6503	SO:0001587	stop_gained	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50664719G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1690C>T	22.37:g.50664719G>A	ENSP00000248846:p.Arg564*					TUBGCP6_ENST00000248846.5_Nonsense_Mutation_p.R564*	p.R564*	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	8	2182	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	564					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Nonsense_Mutation	SNP	ENST00000248846.5	37	c.1690C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	40	8.463773	0.98822	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	5.32	1.49	0.22878	.	0.157011	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9083	0.63850	0.0:0.0:0.3878:0.6122	.	.	.	.	X	564	.	ENSP00000248846:R564X	R	-	1	2	TUBGCP6	49006846	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	2.718000	0.47236	0.313000	0.23062	-0.397000	0.06425	CGA		0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		11	291	0	0	0	1	0	11	291				
SLC38A7	55238	broad.mit.edu	37	16	58711301	58711301	+	Silent	SNP	G	G	A	rs111704627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58711301G>A	ENST00000570101.1	-	5	1522	c.639C>T	c.(637-639)taC>taT	p.Y213Y	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.Y213Y|SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000564010.1_Silent_p.Y124Y			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	213					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCTGTGACGTACCAGGTAC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21355	0.0		0.0	False		,,,				2504	0.0					ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(637-639)taC>taT		solute carrier family 38, member 7		G		6,4390	11.4+/-27.6	0,6,2192	172.0	126.0	142.0		639	-5.1	0.9	16	dbSNP_132	142	0,8600		0,0,4300	no	coding-synonymous	SLC38A7	NM_018231.1		0,6,6492	AA,AG,GG		0.0,0.1365,0.0462		213/463	58711301	6,12990	2198	4300	6498	SO:0001819	synonymous_variant	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58711301G>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.639C>T	16.37:g.58711301G>A						SLC38A7_ENST00000564010.1_Silent_p.Y124Y|SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000219320.4_Silent_p.Y213Y|SLC38A7_ENST00000566953.1_Intron	p.Y213Y			Q9NVC3	S38A7_HUMAN			5	1522	-			213					Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	37	c.639C>T	CCDS10800.1																																																																																				0.557	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		40	358	0	0	0	1	0	40	358				
PDE4DIP	9659	broad.mit.edu	37	1	144917575	144917575	+	Missense_Mutation	SNP	C	C	T	rs374769269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144917575C>T	ENST00000369354.3	-	12	1718	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R673H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	510					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R510H(1)|p.R673H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACAGCAAGACGAAGCTGGCG	0.448			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.R510H(1)|p.R673H(1)	prostate(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2017-2019)cGt>cAt		phosphodiesterase 4D interacting protein		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	271.0	261.0	264.0		1529,1529,1727,1529,2018	-0.3	0.0	1		264	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense,missense,missense	PDE4DIP	NM_014644.4,NM_001198834.2,NM_001198832.1,NM_001002812.1,NM_001002811.1	29,29,29,29,29	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	510/2347,510/2363,576/2241,510/970,673/1133	144917575	2,12996	2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144917575C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1529G>A	1.37:g.144917575C>T	ENSP00000358360:p.Arg510His					PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H	p.R673H			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	8	2457	-			510					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2018G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026704	0.19512	0.0	2.33E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12774	4.66;4.73;4.73;4.75;4.74;3.74;3.74;2.66;2.66;2.65	6.04	-0.323	0.12709	.	.	.	.	.	T	0.02156	0.0067	N	0.16307	0.4	0.20764	N	0.999859	B;B;B;B;B;B	0.27192	0.018;0.009;0.0;0.022;0.171;0.006	B;B;B;B;B;B	0.17098	0.01;0.012;0.0;0.009;0.017;0.001	T	0.45041	-0.9288	9	0.25751	T	0.34	.	9.7616	0.40534	0.0:0.4482:0.0:0.5518	.	673;297;510;673;576;510	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	576;510;510;673;647;647;510;510;673;673;297	ENSP00000327209:R576H;ENSP00000358360:R510H;ENSP00000358363:R510H;ENSP00000435654:R647H;ENSP00000358366:R647H;ENSP00000358357:R510H;ENSP00000358355:R510H;ENSP00000316434:R673H;ENSP00000433392:R673H;ENSP00000436791:R297H	ENSP00000327209:R576H	R	-	2	0	PDE4DIP	143628932	0.235000	0.23794	0.012000	0.15200	0.775000	0.43874	0.522000	0.22909	-0.060000	0.13132	-0.312000	0.09012	CGT		0.448	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		73	1528	0	0	0	1	0	73	1528				
CCDC141	285025	broad.mit.edu	37	2	179714776	179714776	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179714776C>T	ENST00000420890.2	-	21	3474	c.3357G>A	c.(3355-3357)aaG>aaA	p.K1119K	CCDC141_ENST00000295723.5_Splice_Site_p.K544K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1119										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAGAAATTACCTTCAGTTTTT	0.313																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.e21+1		coiled-coil domain containing 141							81.0	82.0	82.0					2																	179714776		2203	4300	6503	SO:0001630	splice_region_variant	285025						protein binding	g.chr2:179714776C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3357+1G>A	2.37:g.179714776C>T						CCDC141_ENST00000295723.5_Splice_Site_p.K544_splice	p.K1119_splice	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		21	3474	-			544					H7C0P1|J3KNW6|Q8N8H3	Splice_Site	SNP	ENST00000420890.2	37	c.3357_splice																																																																																					0.313	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	Silent	53	282	0	0	0	1	0	53	282				
DRC7	84229	broad.mit.edu	37	16	57732027	57732027	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57732027C>A	ENST00000360716.3	+	3	387	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M			Q8IY82	CC135_HUMAN		56					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAGAAGAAGCTGTCAGAGAT	0.597																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(166-168)Ctg>Atg		coiled-coil domain containing 135							100.0	92.0	95.0					16																	57732027		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57732027C>A																												ENST00000360716.3:c.166C>A	16.37:g.57732027C>A	ENSP00000353942:p.Leu56Met					CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M	p.L56M			Q8IY82	CC135_HUMAN			3	387	+			56					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.166C>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368654	0.24771	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.20069	2.38;2.1;2.38	4.18	-1.39	0.08997	.	0.136039	0.33553	N	0.004795	T	0.39462	0.1079	M	0.79693	2.465	0.32066	N	0.595015	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.43458	-0.9390	10	0.72032	D	0.01	-8.9274	6.0355	0.19706	0.0:0.3466:0.4672:0.1862	.	56;56	Q8IY82-2;Q8IY82	.;CC135_HUMAN	M	56	ENSP00000377869:L56M;ENSP00000338938:L56M;ENSP00000353942:L56M	ENSP00000338938:L56M	L	+	1	2	CCDC135	56289528	0.894000	0.30519	0.393000	0.26258	0.022000	0.10575	-0.012000	0.12699	-0.191000	0.10448	-0.326000	0.08463	CTG		0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			46	227	1	0	3.54909e-21	1	3.99219e-21	46	227				
PCDHB4	56131	broad.mit.edu	37	5	140503392	140503392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503392G>T	ENST00000194152.1	+	1	1812	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	604	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCGTACCAGCTGCTCAAGG	0.716																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1810-1812)caG>caT									17.0	17.0	17.0					5																	140503392		2058	4070	6128	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503392G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1812G>T	5.37:g.140503392G>T	ENSP00000194152:p.Gln604His						p.Q604H	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1812	+			604			Cadherin 6.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1812G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206300	0.39003	.	.	ENSG00000081818	ENST00000194152	T	0.52983	0.64	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40791	0.1131	N	0.05534	-0.03	0.32754	N	0.506063	D	0.57257	0.979	D	0.67382	0.951	T	0.50915	-0.8771	9	0.54805	T	0.06	.	3.1232	0.06398	0.098:0.1751:0.5458:0.1811	.	604	Q9Y5E5	PCDB4_HUMAN	H	604	ENSP00000194152:Q604H	ENSP00000194152:Q604H	Q	+	3	2	PCDHB4	140483576	0.009000	0.17119	1.000000	0.80357	0.994000	0.84299	-0.256000	0.08757	2.235000	0.73313	0.485000	0.47835	CAG		0.716	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		105	582	1	0	3.36245e-48	1	4.14781e-48	105	582				
PKHD1L1	93035	broad.mit.edu	37	8	110503218	110503218	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110503218A>G	ENST00000378402.5	+	61	10106	c.10002A>G	c.(10000-10002)tcA>tcG	p.S3334S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3334					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACATGGCTCATCTTATATTC	0.318										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10000-10002)tcA>tcG		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							103.0	89.0	93.0					8																	110503218		1872	4104	5976	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110503218A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10002A>G	8.37:g.110503218A>G		HNSCC(38;0.096)					p.S3334S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		61	10106	+			3334					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10002A>G	CCDS47911.1																																																																																				0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		49	191	0	0	0	1	0	49	191				
ADRBK1	156	broad.mit.edu	37	11	67049920	67049920	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049920A>G	ENST00000308595.5	+	13	1357	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACCCACGGGTACATGGCTCCG	0.662																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1066-1068)tAc>tGc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						75.0	76.0	75.0					11																	67049920		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049920A>G	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1067A>G	11.37:g.67049920A>G	ENSP00000312262:p.Tyr356Cys					ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C|ADRBK1_ENST00000527176.1_3'UTR	p.Y356C	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1357	+			356			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1067A>G	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398443	0.62177	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.59638	0.25;0.25	5.57	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000040	T	0.80778	0.4688	M	0.93594	3.435	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85634	0.1272	10	0.87932	D	0	-2.2284	12.7695	0.57412	0.8634:0.1366:0.0:0.0	.	356;356	P25098;E9PRV7	ARBK1_HUMAN;.	C	356	ENSP00000312262:Y356C;ENSP00000434126:Y356C	ENSP00000312262:Y356C	Y	+	2	0	ADRBK1	66806496	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.939000	0.70179	2.117000	0.64856	0.459000	0.35465	TAC		0.662	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		75	391	0	0	0	1	0	75	391				
HSD17B11	51170	broad.mit.edu	37	4	88261694	88261694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88261694G>A	ENST00000358290.4	-	6	1075	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	254					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ATCATCTTCTGCTCAGTCAGA	0.363																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(760-762)Cag>Tag		hydroxysteroid (17-beta) dehydrogenase 11							93.0	94.0	93.0					4																	88261694		2203	4300	6503	SO:0001587	stop_gained	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88261694G>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.760C>T	4.37:g.88261694G>A	ENSP00000351035:p.Gln254*					HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*|RP11-529H2.2_ENST00000508163.1_RNA	p.Q254*	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	6	1075	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	254					Q96HF6|Q9UKU4	Nonsense_Mutation	SNP	ENST00000358290.4	37	c.760C>T	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483056	0.63962	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.64	-0.742	0.11108	.	0.674135	0.14663	N	0.305856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	10.9414	0.47275	0.0:0.1252:0.3101:0.5647	.	.	.	.	X	254;210	.	ENSP00000351035:Q254X	Q	-	1	0	HSD17B11	88480718	0.021000	0.18746	0.613000	0.29037	0.758000	0.43043	-0.102000	0.10956	-0.556000	0.06134	-0.169000	0.13324	CAG		0.363	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		60	246	0	0	0	1	0	60	246				
FAM86C1	55199	broad.mit.edu	37	11	71504503	71504503	+	Silent	SNP	C	C	T	rs576756514		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71504503C>T	ENST00000359244.4	+	3	260	c.237C>T	c.(235-237)acC>acT	p.T79T	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	79										lung(1)	1						AGGAGTCCACCCAGGGCCACC	0.597																																						ENST00000359244.4																			0				lung(1)	1						c.(235-237)acC>acT		family with sequence similarity 86, member C1							28.0	27.0	27.0					11																	71504503		2163	4260	6423	SO:0001819	synonymous_variant	55199							g.chr11:71504503C>T	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.237C>T	11.37:g.71504503C>T						FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000528685.1_Intron	p.T79T	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN			3	260	+			79					Q8N5D3	Silent	SNP	ENST00000359244.4	37	c.237C>T	CCDS41686.1																																																																																				0.597	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		6	311	0	0	0	1	0	6	311				
TRAV4	28689	broad.mit.edu	37	14	22204513	22204513	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22204513G>A	ENST00000390426.2	+	0	80									T cell receptor alpha variable 4																		GAGGCAAGTGGCGAGAGTGAT	0.517																																						ENST00000390426.2																			0																				124.0	121.0	122.0					14																	22204513		2044	4192	6236			0							g.chr14:22204513G>A	AE000658		14q11.2	2012-02-07			ENSG00000211778	ENSG00000211778		"""T cell receptors / TRA locus"""	12140	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV20S1, TCRAV4S1			OTTHUMG00000168982		14.37:g.22204513G>A														0	80	+									RNA	SNP	ENST00000390426.2	37																																																																																						0.517	TRAV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401877.1	NG_001332		24	70	0	0	0	1	0	24	70				
NLE1	54475	broad.mit.edu	37	17	33467027	33467027	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33467027C>A	ENST00000442241.4	-	3	260	c.221G>T	c.(220-222)gGg>gTg	p.G74V	NLE1_ENST00000360831.5_Missense_Mutation_p.G74V|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	74					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CAACGTCTTCCCCAGTGAGGA	0.547																																						ENST00000442241.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(220-222)gGg>gTg		notchless homolog 1 (Drosophila)							98.0	80.0	86.0					17																	33467027		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33467027C>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.221G>T	17.37:g.33467027C>A	ENSP00000413572:p.Gly74Val					NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.G74V	p.G74V	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN			3	260	-		Ovarian(249;0.17)	74					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.221G>T	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.010051	0.19277	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.57436	0.4	5.22	-0.569	0.11756	NLE (1);	0.558737	0.20980	N	0.082221	T	0.35970	0.0950	L	0.41492	1.28	0.58432	D	0.999992	B	0.24043	0.096	B	0.31390	0.129	T	0.04565	-1.0942	10	0.17369	T	0.5	-12.3469	4.3035	0.10935	0.0:0.3614:0.1731:0.4654	.	74	Q9NVX2	NLE1_HUMAN	V	74	ENSP00000413572:G74V	ENSP00000413572:G74V	G	-	2	0	NLE1	30491140	0.976000	0.34144	0.995000	0.50966	0.700000	0.40528	0.986000	0.29590	0.075000	0.16796	-0.145000	0.13849	GGG		0.547	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		33	174	1	0	3.6622e-26	1	4.21603e-26	33	174				
SVEP1	79987	broad.mit.edu	37	9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113276288T>C	ENST00000401783.2	-	4	1399	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	355					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGGGATGTGCTTCCAGGT	0.507																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1063-1065)Aca>Gca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							72.0	71.0	71.0					9																	113276288		2004	4179	6183	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113276288T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1063A>G	9.37:g.113276288T>C	ENSP00000384917:p.Thr355Ala					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A	p.T355A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			4	1399	-			355					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1063A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247229	0.80024	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.88	4.73	0.59995	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.049298	0.85682	D	0.000000	T	0.42854	0.1221	M	0.79258	2.445	0.37752	D	0.925993	D;D;D;D	0.89917	0.992;1.0;0.998;0.995	P;D;D;P	0.87578	0.851;0.998;0.977;0.847	T	0.51426	-0.8707	10	0.72032	D	0.01	.	13.2119	0.59830	0.0:0.0:0.133:0.867	.	355;355;355;355	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	A	355;332;355;332	ENSP00000384917:T355A;ENSP00000363593:T332A;ENSP00000304118:T355A;ENSP00000363585:T332A	ENSP00000304118:T355A	T	-	1	0	SVEP1	112316109	1.000000	0.71417	0.940000	0.37924	0.810000	0.45777	7.673000	0.83973	1.024000	0.39682	0.528000	0.53228	ACA		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	62	0	0	0	1	0	15	62				
SDR16C5	195814	broad.mit.edu	37	8	57221490	57221490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57221490C>T	ENST00000303749.3	-	4	1199	c.562G>A	c.(562-564)Gca>Aca	p.A188T	SDR16C5_ENST00000522671.1_Missense_Mutation_p.A188T|SDR16C5_ENST00000396721.2_Missense_Mutation_p.A144T	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	188					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTCTTACCTGCCAGCCCATTT	0.358																																						ENST00000396721.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(430-432)Gca>Aca		short chain dehydrogenase/reductase family 16C, member 5							103.0	96.0	99.0					8																	57221490		2203	4300	6503	SO:0001583	missense	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57221490C>T		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.562G>A	8.37:g.57221490C>T	ENSP00000307607:p.Ala188Thr					SDR16C5_ENST00000522671.1_Missense_Mutation_p.A188T|SDR16C5_ENST00000303749.3_Missense_Mutation_p.A188T	p.A144T			Q8N3Y7	RDHE2_HUMAN			3	560	-			188					B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	c.430G>A	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015572	0.19355	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.90444	-2.67;-2.45;-2.45	5.79	3.76	0.43208	NAD(P)-binding domain (1);	0.168725	0.49916	D	0.000130	D	0.82582	0.5068	N	0.13168	0.305	0.53688	D	0.999973	B;B;B	0.27068	0.049;0.167;0.133	B;B;B	0.30943	0.074;0.053;0.122	T	0.77156	-0.2691	10	0.14252	T	0.57	.	16.4053	0.83662	0.3315:0.6685:0.0:0.0	.	144;188;188	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	T	144;188;188;188	ENSP00000379947:A144T;ENSP00000307607:A188T;ENSP00000431010:A188T	ENSP00000307607:A188T	A	-	1	0	SDR16C5	57384044	0.988000	0.35896	0.923000	0.36655	0.134000	0.20937	2.656000	0.46716	1.387000	0.46486	0.655000	0.94253	GCA		0.358	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		25	176	0	0	0	1	0	25	176				
MXRA7	439921	broad.mit.edu	37	17	74679976	74679976	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74679976C>T	ENST00000355797.3	-	3	509				MXRA7_ENST00000375036.2_Silent_p.*178*|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000589082.1_Silent_p.*23*	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						AAGGAACTTGCTACAGGGAAG	0.488																																						ENST00000375036.2																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(532-534)taG>taA		matrix-remodelling associated 7							136.0	120.0	125.0					17																	74679976		2203	4300	6503	SO:0001627	intron_variant	439921					integral to membrane		g.chr17:74679976C>T	BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.500+1177G>A	17.37:g.74679976C>T						MXRA7_ENST00000589082.1_Silent_p.*23*|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000355797.3_Intron	p.*178*	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN			4	591	-			0					Q0P5W3	Silent	SNP	ENST00000355797.3	37	c.534G>A	CCDS32745.1																																																																																				0.488	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529		46	271	0	0	0	1	0	46	271				
PPM1G	5496	broad.mit.edu	37	2	27605361	27605361	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27605361A>T	ENST00000344034.4	-	8	1577	c.1313T>A	c.(1312-1314)aTt>aAt	p.I438N	ZNF513_ENST00000407879.1_5'Flank|ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	438					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCACAGGCAATGACCATGAA	0.478																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(1312-1314)aTt>aAt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							232.0	217.0	222.0					2																	27605361		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27605361A>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1313T>A	2.37:g.27605361A>T	ENSP00000342778:p.Ile438Asn					PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	p.I438N	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			8	1577	-	Acute lymphoblastic leukemia(172;0.155)		438						Missense_Mutation	SNP	ENST00000344034.4	37	c.1313T>A	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943702	0.73672	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.19806	2.12;2.12	5.64	5.64	0.86602	Protein phosphatase 2C-like (5);	0.049370	0.85682	D	0.000000	T	0.55955	0.1953	M	0.93150	3.385	0.80722	D	1	D;D	0.69078	0.997;0.986	D;P	0.67725	0.953;0.876	T	0.68640	-0.5355	10	0.87932	D	0	-6.7713	14.697	0.69129	1.0:0.0:0.0:0.0	.	239;438	Q59GB2;O15355	.;PPM1G_HUMAN	N	438;438;421;239	ENSP00000342778:I438N;ENSP00000264714:I438N	ENSP00000342778:I438N	I	-	2	0	PPM1G	27458865	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.072000	0.93986	2.155000	0.67459	0.533000	0.62120	ATT		0.478	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		227	620	0	0	0	1	0	227	620				
BAIAP2	10458	broad.mit.edu	37	17	79059520	79059520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79059520C>A	ENST00000321300.6	+	5	439	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000573894.1_3'UTR	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	116	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCCAGGTATCTGAGTGTAAG	0.597																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(346-348)Ctg>Atg		BAI1-associated protein 2							83.0	72.0	76.0					17																	79059520		2203	4300	6503	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79059520C>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.346C>A	17.37:g.79059520C>A	ENSP00000316338:p.Leu116Met					BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M	p.L116M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		5	439	+	all_neural(118;0.101)		116			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.346C>A	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125868	0.20959	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.76	4.01	4.01	0.46588	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.64402	D	0.000003	T	0.45034	0.1322	N	0.16862	0.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.979;0.974;1.0;1.0;0.979	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.942;0.921;1.0;1.0;0.942	T	0.24512	-1.0158	10	0.11182	T	0.66	-36.3918	15.94	0.79747	0.0:1.0:0.0:0.0	.	38;117;116;116;116;116;116;116	F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;BAIP2_HUMAN;.;.;.;.;.	M	116;116;116;116;38	ENSP00000316338:L116M;ENSP00000401022:L116M;ENSP00000413069:L116M;ENSP00000315685:L116M;ENSP00000376211:L38M	ENSP00000315685:L116M	L	+	1	2	BAIAP2	76674115	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	2.725000	0.47294	2.066000	0.61787	0.655000	0.94253	CTG		0.597	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			41	228	1	0	9.84934e-19	1	1.0948e-18	41	228				
PODXL	5420	broad.mit.edu	37	7	131189241	131189241	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189241T>C	ENST00000378555.3	-	9	1753	c.1506A>G	c.(1504-1506)acA>acG	p.T502T	PODXL_ENST00000541194.1_Silent_p.T504T|PODXL_ENST00000537928.1_Silent_p.T470T|PODXL_ENST00000322985.9_Silent_p.T470T			O00592	PODXL_HUMAN	podocalyxin-like	502					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTCCACTGTCTGCAGCT	0.557																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1510-1512)acA>acG		podocalyxin-like							160.0	139.0	146.0					7																	131189241		2203	4300	6503	SO:0001819	synonymous_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131189241T>C		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1506A>G	7.37:g.131189241T>C						PODXL_ENST00000537928.1_Silent_p.T470T|PODXL_ENST00000378555.3_Silent_p.T502T|PODXL_ENST00000322985.9_Silent_p.T470T	p.T504T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			9	1769	-	Melanoma(18;0.162)		502					A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	c.1512A>G	CCDS34755.1																																																																																				0.557	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		75	402	0	0	0	1	0	75	402				
DYRK3	8444	broad.mit.edu	37	1	206821546	206821546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206821546G>A	ENST00000367109.2	+	3	1171	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.D315N	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATTCACTGCGATCTGAAGCC	0.458																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(943-945)Gat>Aat		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							90.0	95.0	93.0					1																	206821546		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821546G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1003G>A	1.37:g.206821546G>A	ENSP00000356076:p.Asp335Asn					DYRK3_ENST00000367109.2_Missense_Mutation_p.D335N|DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N|DYRK3_ENST00000489878.1_Intron	p.D315N			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1416	+	Breast(84;0.183)		335			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.943G>A	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486637	0.84854	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	D;D;D	0.92965	-3.14;-3.14;-3.14	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98503	1.0615	10	0.87932	D	0	.	17.8295	0.88677	0.0:0.0:1.0:0.0	.	335;315	O43781;O43781-2	DYRK3_HUMAN;.	N	335;315;315	ENSP00000356076:D335N;ENSP00000356075:D315N;ENSP00000356073:D315N	ENSP00000356073:D315N	D	+	1	0	DYRK3	204888169	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	9.647000	0.98478	2.692000	0.91855	0.448000	0.29417	GAT		0.458	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		89	523	0	0	0	1	0	89	523				
CCDC112	153733	broad.mit.edu	37	5	114605433	114605433	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114605433T>G	ENST00000512261.1	-	9	1562	c.1146A>C	c.(1144-1146)caA>caC	p.Q382H	CCDC112_ENST00000506442.1_Intron|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q465H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	382										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTCTTTGTTTTTGTGACTTTT	0.308																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1393-1395)caA>caC		coiled-coil domain containing 112							178.0	167.0	171.0					5																	114605433		2200	4295	6495	SO:0001583	missense	153733							g.chr5:114605433T>G	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1146A>C	5.37:g.114605433T>G	ENSP00000423712:p.Gln382His					CCDC112_ENST00000512261.1_Missense_Mutation_p.Q382H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H|CCDC112_ENST00000506442.1_Intron	p.Q465H	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	8	1682	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	382					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.1395A>C	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705875	0.48412	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000395557	T;T;T	0.18016	2.27;2.24;2.24	5.35	4.17	0.49024	.	0.314007	0.33180	N	0.005185	T	0.09598	0.0236	N	0.08118	0	0.25575	N	0.98685	B;B	0.20052	0.041;0.005	B;B	0.14023	0.01;0.003	T	0.22103	-1.0226	10	0.72032	D	0.01	-8.6957	11.5301	0.50604	0.1346:0.0:0.0:0.8654	.	465;382	Q8NEF3-2;Q8NEF3	.;CC112_HUMAN	H	465;382;382	ENSP00000368931:Q465H;ENSP00000423712:Q382H;ENSP00000378925:Q382H	ENSP00000368931:Q465H	Q	-	3	2	CCDC112	114633332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.247000	0.32815	0.938000	0.37419	0.528000	0.53228	CAA		0.308	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		13	60	0	0	0	1	0	13	60				
CUL3	8452	broad.mit.edu	37	2	225362504	225362504	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225362504T>C	ENST00000264414.4	-	12	2011	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	CUL3_ENST00000409777.1_Missense_Mutation_p.D534G|CUL3_ENST00000409096.1_Missense_Mutation_p.D534G|CUL3_ENST00000344951.4_Missense_Mutation_p.D492G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	558					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGCATTGAGATCTGCAGAACC	0.358																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1672-1674)gAt>gGt		cullin 3							148.0	140.0	143.0					2																	225362504		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225362504T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1673A>G	2.37:g.225362504T>C	ENSP00000264414:p.Asp558Gly					CUL3_ENST00000409777.1_Missense_Mutation_p.D534G|CUL3_ENST00000344951.4_Missense_Mutation_p.D492G|CUL3_ENST00000409096.1_Missense_Mutation_p.D534G	p.D558G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	12	2011	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	558					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1673A>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	34	5.371427	0.95923	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.71674	0.993;0.994;0.993;0.998	P;D;P;D	0.68353	0.888;0.932;0.888;0.957	D	0.91128	0.4935	10	0.51188	T	0.08	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	492;536;534;558	Q13618-3;Q53S54;Q13618-2;Q13618	.;.;.;CUL3_HUMAN	G	558;492;534;534	ENSP00000264414:D558G;ENSP00000343601:D492G;ENSP00000387200:D534G;ENSP00000386525:D534G	ENSP00000264414:D558G	D	-	2	0	CUL3	225070748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.023000	0.88764	2.367000	0.80283	0.528000	0.53228	GAT		0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			85	322	0	0	0	1	0	85	322				
LHFPL5	222662	broad.mit.edu	37	6	35782385	35782385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782385C>T	ENST00000373853.1	+	2	853	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	LHFPL5_ENST00000360215.1_Missense_Mutation_p.R159C|LHFPL5_ENST00000496656.1_3'UTR			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	159					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAGGTGCGGCGCATGTGTGG	0.627																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(475-477)Cgc>Tgc		lipoma HMGIC fusion partner-like 5							164.0	115.0	132.0					6																	35782385		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35782385C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.475C>T	6.37:g.35782385C>T	ENSP00000362960:p.Arg159Cys					LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000373853.1_Missense_Mutation_p.R159C	p.R159C	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			2	852	+			159					B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.475C>T	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342054	0.81911	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.73258	-0.73;-0.73	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86285	0.1670	10	0.66056	D	0.02	-10.6758	19.1576	0.93517	0.0:1.0:0.0:0.0	.	159	Q8TAF8	TMHS_HUMAN	C	159	ENSP00000362960:R159C;ENSP00000353346:R159C	ENSP00000353346:R159C	R	+	1	0	LHFPL5	35890363	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.242000	0.51384	2.541000	0.85698	0.561000	0.74099	CGC		0.627	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		14	405	0	0	0	1	0	14	405				
CBFA2T2	9139	broad.mit.edu	37	20	32232319	32232319	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32232319C>G	ENST00000346541.3	+	12	2219	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R	CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.P552R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	561					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGCTGCTTCCTGTAGGCAGG	0.677																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1681-1683)cCt>cGt		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							49.0	52.0	51.0					20																	32232319		2203	4298	6501	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32232319C>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1682C>G	20.37:g.32232319C>G	ENSP00000262653:p.Pro561Arg					CBFA2T2_ENST00000342704.5_Missense_Mutation_p.P552R|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R	p.P561R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			12	2219	+			561					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1682C>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095074	0.56075	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.46819	0.87;0.86;0.87;0.87;1.47	5.88	5.88	0.94601	.	0.105066	0.64402	D	0.000003	T	0.33059	0.0850	N	0.08118	0	0.58432	D	0.999995	P;P	0.48016	0.904;0.688	B;B	0.40534	0.243;0.332	T	0.23190	-1.0195	10	0.42905	T	0.14	0.0038	20.2422	0.98381	0.0:1.0:0.0:0.0	.	561;552	O43439;F8W6D7	MTG8R_HUMAN;.	R	335;561;552;561;532;571;109	ENSP00000364428:P561R;ENSP00000345810:P552R;ENSP00000262653:P561R;ENSP00000380902:P532R;ENSP00000352622:P571R	ENSP00000345810:P552R	P	+	2	0	CBFA2T2	31695980	0.981000	0.34729	1.000000	0.80357	0.698000	0.40448	5.354000	0.66040	2.782000	0.95742	0.655000	0.94253	CCT		0.677	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		110	428	0	0	0	1	0	110	428				
ACSF2	80221	broad.mit.edu	37	17	48539874	48539874	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48539874G>T	ENST00000300441.4	+	6	824	c.720G>T	c.(718-720)caG>caT	p.Q240H	ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000427954.2_Missense_Mutation_p.Q265H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	240					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCACACGGCAGCATCTGGACC	0.617																																						ENST00000427954.2																			0				endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13						c.(793-795)caG>caT		acyl-CoA synthetase family member 2							89.0	75.0	80.0					17																	48539874		2203	4300	6503	SO:0001583	missense	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48539874G>T	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.720G>T	17.37:g.48539874G>T	ENSP00000300441:p.Gln240His					ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H|ACSF2_ENST00000300441.4_Missense_Mutation_p.Q240H	p.Q265H			Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		7	838	+	Breast(11;1.93e-18)		240					B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	c.795G>T	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340395	0.41498	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.39592	1.21;1.26;1.07;1.22;1.33	5.57	4.6	0.57074	AMP-dependent synthetase/ligase (1);	0.569399	0.18669	N	0.134492	T	0.58163	0.2103	L	0.50847	1.595	0.40560	D	0.981207	D;D;B;D	0.89917	1.0;1.0;0.074;0.999	D;D;B;D	0.77004	0.989;0.989;0.149;0.983	T	0.57894	-0.7732	10	0.44086	T	0.13	-21.777	14.4944	0.67674	0.0707:0.0:0.9293:0.0	.	227;265;197;240	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	H	240;80;197;265;227	ENSP00000300441:Q240H;ENSP00000437987:Q80H;ENSP00000425964:Q197H;ENSP00000401831:Q265H;ENSP00000421884:Q227H	ENSP00000300441:Q240H	Q	+	3	2	ACSF2	45894873	1.000000	0.71417	0.957000	0.39632	0.843000	0.47879	2.175000	0.42491	1.354000	0.45846	0.563000	0.77884	CAG		0.617	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		73	340	1	0	1.52378e-38	1	1.83746e-38	73	340				
SPTA1	6708	broad.mit.edu	37	1	158639514	158639514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158639514C>A	ENST00000368147.4	-	13	1842	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	554					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACGGATAGCCTTGATGTTCT	0.428																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1660-1662)aaG>aaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							230.0	218.0	222.0					1																	158639514		1918	4124	6042	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639514C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1662G>T	1.37:g.158639514C>A	ENSP00000357129:p.Lys554Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.K554N	p.K554N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			13	1842	-	all_hematologic(112;0.0378)		554					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1662G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	6.407	0.443166	0.12164	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	4.72	2.36	0.29203	.	0.663319	0.11715	N	0.536488	T	0.16257	0.0391	N	0.16368	0.405	0.19575	N	0.999963	B	0.19706	0.038	B	0.30495	0.116	T	0.37820	-0.9689	10	0.42905	T	0.14	.	10.4003	0.44225	0.685:0.3149:0.0:0.0	.	554	P02549	SPTA1_HUMAN	N	554	ENSP00000357130:K554N;ENSP00000357129:K554N	ENSP00000357129:K554N	K	-	3	2	SPTA1	156906138	0.956000	0.32656	0.216000	0.23742	0.008000	0.06430	1.365000	0.34182	0.389000	0.25086	-1.224000	0.01588	AAG		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		315	923	1	0	1.50759e-95	1	1.93743e-95	315	923				
CDC34	997	broad.mit.edu	37	19	541501	541501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:541501C>T	ENST00000215574.4	+	5	878	c.660C>T	c.(658-660)gcC>gcT	p.A220A	GZMM_ENST00000264553.3_5'Flank	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	220	Asp/Glu-rich (acidic).|SCF-binding.				cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGAGGCCGACAGCTGCT	0.622																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(658-660)gcC>gcT		cell division cycle 34							58.0	50.0	53.0					19																	541501		2203	4300	6503	SO:0001819	synonymous_variant	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:541501C>T	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.660C>T	19.37:g.541501C>T							p.A220A	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	878	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	220			Asp/Glu-rich (acidic).|SCF-binding.		A8K689	Silent	SNP	ENST00000215574.4	37	c.660C>T	CCDS12030.1																																																																																				0.622	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		12	303	0	0	0	1	0	12	303				
IFNL2	282616	broad.mit.edu	37	19	39759474	39759474	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39759474C>A	ENST00000331982.5	+	2	223	c.168C>A	c.(166-168)gcC>gcA	p.A56A		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	56					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											AGCTGCAGGCCTTTAAGAGGG	0.622																																						ENST00000331982.5																			0											c.(166-168)gcC>gcA		interferon, lambda 2							29.0	31.0	31.0					19																	39759474		2203	4295	6498	SO:0001819	synonymous_variant	282616							g.chr19:39759474C>A	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.168C>A	19.37:g.39759474C>A							p.A56A	NM_172138.1	NP_742150.1					2	223	+								Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	c.168C>A	CCDS42567.1																																																																																				0.622	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		45	152	1	0	2.48909e-17	1	2.74552e-17	45	152				
C2orf43	60526	broad.mit.edu	37	2	20939749	20939749	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20939749A>C	ENST00000237822.3	-	5	764	c.685T>G	c.(685-687)Tta>Gta	p.L229V	C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V|C2orf43_ENST00000440866.2_Intron	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	229										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTTCTAATATATTCAAT	0.343																																						ENST00000237822.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(685-687)Tta>Gta		chromosome 2 open reading frame 43							89.0	93.0	92.0					2																	20939749		2203	4300	6503	SO:0001583	missense	60526							g.chr2:20939749A>C	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.685T>G	2.37:g.20939749A>C	ENSP00000237822:p.Leu229Val					C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V|C2orf43_ENST00000440866.2_Intron	p.L229V	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN			5	764	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		229					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	c.685T>G	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368363	0.24771	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.47869	0.83;1.56;0.83	5.76	-2.53	0.06326	.	0.579646	0.16566	N	0.208842	T	0.41236	0.1150	L	0.47716	1.5	0.21627	N	0.999619	P;P;B;P	0.47677	0.846;0.899;0.197;0.786	B;P;B;P	0.47941	0.34;0.514;0.378;0.562	T	0.45366	-0.9266	10	0.20046	T	0.44	-1.5435	11.3086	0.49351	0.3846:0.0:0.6154:0.0	.	187;181;229;229	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	V	99;229;229;181;99;99	ENSP00000384267:L99V;ENSP00000388635:L181V;ENSP00000440570:L99V	ENSP00000237822:L229V	L	-	1	2	C2orf43	20803230	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.023000	0.12456	-0.259000	0.09432	-0.297000	0.09499	TTA		0.343	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		123	356	0	0	0	1	0	123	356				
GPR149	344758	broad.mit.edu	37	3	154055600	154055600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154055600G>A	ENST00000389740.2	-	4	2183	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	695					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGCCTGTGTGCTTCTACTGT	0.438																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(2083-2085)gCa>gTa		G protein-coupled receptor 149							309.0	282.0	290.0					3																	154055600		1939	4150	6089	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055600G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2084C>T	3.37:g.154055600G>A	ENSP00000374390:p.Ala695Val						p.A695V	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	2183	-			695						Missense_Mutation	SNP	ENST00000389740.2	37	c.2084C>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387473	0.82902	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70550	-0.4841	9	0.87932	D	0	-17.2027	20.063	0.97692	0.0:0.0:1.0:0.0	.	695	Q86SP6	GP149_HUMAN	V	695	.	ENSP00000374390:A695V	A	-	2	0	GPR149	155538294	1.000000	0.71417	0.952000	0.39060	0.444000	0.32077	9.455000	0.97625	2.741000	0.93983	0.650000	0.86243	GCA		0.438	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		207	978	0	0	0	1	0	207	978				
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	G	A	rs200144297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.001		0.0	False		,,,				2504	0.0					ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(133-135)tcG>tcA		leucine rich repeat containing 49							90.0	86.0	88.0					15																	71188217		2199	4297	6496	SO:0001819	synonymous_variant	54839					cytoplasm|microtubule		g.chr15:71188217G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.135G>A	15.37:g.71188217G>A						LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000436542.2_3'UTR	p.S45S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			3	395	+			45					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Silent	SNP	ENST00000260382.5	37	c.135G>A	CCDS32282.1																																																																																				0.323	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		56	206	0	0	0	1	0	56	206				
RNF208	727800	broad.mit.edu	37	9	140115570	140115570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140115570G>A	ENST00000392827.1	-	2	263	c.95C>T	c.(94-96)gCc>gTc	p.A32V	RNF208_ENST00000391553.1_Missense_Mutation_p.A32V			Q9H0X6	RN208_HUMAN	ring finger protein 208	32					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AATCTTCATGGCCTCCATCTT	0.672																																						ENST00000392827.1																			0				lung(1)	1						c.(94-96)gCc>gTc		ring finger protein 208							16.0	20.0	19.0					9																	140115570		1965	4147	6112	SO:0001583	missense	727800						zinc ion binding	g.chr9:140115570G>A	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.95C>T	9.37:g.140115570G>A	ENSP00000376572:p.Ala32Val					RNF208_ENST00000391553.1_Missense_Mutation_p.A32V	p.A32V			Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	263	-	all_cancers(76;0.0926)		32					A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	c.95C>T	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	g	16.65	3.183072	0.57800	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.36157	1.27;1.27	4.25	3.28	0.37604	.	.	.	.	.	T	0.24198	0.0586	N	0.14661	0.345	0.33036	D	0.53082	B	0.33612	0.419	B	0.35353	0.201	T	0.42032	-0.9475	9	0.87932	D	0	-12.8448	11.4687	0.50254	0.0:0.0:0.8194:0.1805	.	32	Q9H0X6	RN208_HUMAN	V	32	ENSP00000376572:A32V;ENSP00000375397:A32V	ENSP00000375397:A32V	A	-	2	0	RNF208	139235391	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.320000	0.59203	1.915000	0.55452	0.556000	0.70494	GCC		0.672	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		14	70	0	0	0	1	0	14	70				
NOL9	79707	broad.mit.edu	37	1	6592123	6592123	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6592123T>C	ENST00000377705.5	-	9	1584	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	518					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAAGAATTTTGTTATGT	0.463																																						ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1552-1554)Att>Gtt		nucleolar protein 9							122.0	118.0	120.0					1																	6592123		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592123T>C	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1552A>G	1.37:g.6592123T>C	ENSP00000366934:p.Ile518Val						p.I518V	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	9	1584	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	518					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1552A>G	CCDS80.1	.	.	.	.	.	.	.	.	.	.	T	0.456	-0.891319	0.02491	.	.	ENSG00000162408	ENST00000377705	T	0.45276	0.9	5.64	-1.04	0.10068	Pre-mRNA cleavage complex II Clp1 (1);	0.471757	0.20863	N	0.084305	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.15636	-1.0430	10	0.29301	T	0.29	-8.2714	10.3635	0.44010	0.0:0.3013:0.0:0.6987	.	518	Q5SY16	NOL9_HUMAN	V	518	ENSP00000366934:I518V	ENSP00000366934:I518V	I	-	1	0	NOL9	6514710	0.029000	0.19370	0.002000	0.10522	0.382000	0.30200	0.135000	0.15952	-0.240000	0.09696	0.379000	0.24179	ATT		0.463	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		38	290	0	0	0	1	0	38	290				
C4orf36	132989	broad.mit.edu	37	4	87809352	87809352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87809352C>A	ENST00000473559.1	-	6	805	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E48*|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	48										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		GAAATTTCTTCCAAGAAAGGC	0.418																																						ENST00000473559.1																			0				breast(1)|kidney(1)|lung(1)|prostate(1)	4						c.(142-144)Gaa>Taa		chromosome 4 open reading frame 36							96.0	94.0	94.0					4																	87809352		2203	4300	6503	SO:0001587	stop_gained	132989							g.chr4:87809352C>A	BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.142G>T	4.37:g.87809352C>A	ENSP00000420949:p.Glu48*					C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E48*|C4orf36_ENST00000503001.1_5'UTR	p.E48*			Q96KX1	CD036_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00141)	6	805	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	48						Nonsense_Mutation	SNP	ENST00000473559.1	37	c.142G>T	CCDS3615.1	.	.	.	.	.	.	.	.	.	.	C	39	7.514727	0.98332	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	.	.	.	5.13	3.39	0.38822	.	0.351640	0.24592	N	0.037207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.2562	6.992	0.24761	0.0:0.7333:0.1743:0.0925	.	.	.	.	X	48	.	ENSP00000295898:E48X	E	-	1	0	C4orf36	88028376	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.233000	0.32648	0.736000	0.32559	-0.274000	0.10170	GAA		0.418	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2	NM_144645		10	425	1	0	0.000978159	1	0.000988919	10	425				
ULK3	25989	broad.mit.edu	37	15	75133792	75133792	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75133792C>T	ENST00000440863.2	-	4	514	c.423G>A	c.(421-423)caG>caA	p.Q141Q	ULK3_ENST00000569437.1_Silent_p.Q141Q|ULK3_ENST00000568667.1_Silent_p.Q152Q	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GTAGAATGTTCTGTGGCTTCA	0.537																																						ENST00000440863.2																			0				breast(2)	2						c.(421-423)caG>caA		unc-51 like kinase 3							116.0	122.0	120.0					15																	75133792		1990	4168	6158	SO:0001819	synonymous_variant	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75133792C>T	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.423G>A	15.37:g.75133792C>T						ULK3_ENST00000568667.1_Silent_p.Q152Q|ULK3_ENST00000569437.1_Silent_p.Q141Q	p.Q141Q	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			4	514	-			141			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Silent	SNP	ENST00000440863.2	37	c.423G>A	CCDS45305.1																																																																																				0.537	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		30	164	0	0	0	1	0	30	164				
SLC1A1	6505	broad.mit.edu	37	9	4576765	4576765	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576765T>C	ENST00000262352.3	+	10	1429		c.e10+2			NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1						D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CACCATCAGGTGGGGCATGGT	0.483																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.e10+2		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						154.0	137.0	143.0					9																	4576765		2203	4300	6503	SO:0001630	splice_region_variant	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4576765T>C		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1193+2T>C	9.37:g.4576765T>C								NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	10	1429	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)						O75587|Q5VZ24|Q8N199|Q9UEW2	Splice_Site	SNP	ENST00000262352.3	37		CCDS6452.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349111	0.82132	.	.	ENSG00000106688	ENST00000262352;ENST00000422398	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6606	0.77186	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC1A1	4566765	1.000000	0.71417	0.980000	0.43619	0.922000	0.55478	7.962000	0.87912	2.097000	0.63578	0.533000	0.62120	.		0.483	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		Intron	70	379	0	0	0	1	0	70	379				
CASZ1	54897	broad.mit.edu	37	1	10725412	10725412	+	Missense_Mutation	SNP	C	C	A	rs376050510		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10725412C>A	ENST00000377022.3	-	5	550	c.233G>T	c.(232-234)cGc>cTc	p.R78L	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	78					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R78H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCCTCGCTGCGGGGGGCCCG	0.701																																						ENST00000377022.3																			1	Substitution - Missense(1)	p.R78H(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(232-234)cGc>cTc		castor zinc finger 1							43.0	53.0	49.0					1																	10725412		2123	4218	6341	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10725412C>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.233G>T	1.37:g.10725412C>A	ENSP00000366221:p.Arg78Leu					CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L	p.R78L	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	5	550	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	78					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.233G>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463829	0.43736	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.203933	0.32314	N	0.006272	T	0.24890	0.0604	N	0.04508	-0.205	0.30057	N	0.811243	B;B;B	0.26512	0.002;0.151;0.002	B;B;B	0.25987	0.002;0.065;0.002	T	0.14309	-1.0477	9	0.37606	T	0.19	-17.2461	17.4322	0.87542	0.0:1.0:0.0:0.0	.	102;78;78	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	L	78	.	ENSP00000339445:R78L	R	-	2	0	CASZ1	10647999	0.750000	0.28316	0.996000	0.52242	0.941000	0.58515	0.655000	0.24933	2.191000	0.70037	0.511000	0.50034	CGC		0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		128	400	1	0	2.70824e-66	1	3.42657e-66	128	400				
STAM	8027	broad.mit.edu	37	10	17750861	17750861	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17750861G>A	ENST00000377524.3	+	13	1511	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	STAM_ENST00000540523.1_Silent_p.P321P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	432					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTCTTCCCCCGGAGCAGCTGT	0.572																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1294-1296)ccG>ccA		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							89.0	87.0	88.0					10																	17750861		2203	4300	6503	SO:0001819	synonymous_variant	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17750861G>A	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1296G>A	10.37:g.17750861G>A						STAM_ENST00000540523.1_Silent_p.P321P	p.P432P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			13	1511	+			432					B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	ENST00000377524.3	37	c.1296G>A	CCDS7122.1																																																																																				0.572	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		107	438	0	0	0	1	0	107	438				
PSG4	5672	broad.mit.edu	37	19	43698728	43698728	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43698728C>A	ENST00000405312.3	-	5	1244	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	PSG4_ENST00000433626.2_Missense_Mutation_p.S243I|PSG4_ENST00000244295.9_Missense_Mutation_p.S243I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	336	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGGTAAATGCTGGGGAGGTC	0.483																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(1006-1008)aGc>aTc		pregnancy specific beta-1-glycoprotein 4							129.0	136.0	134.0					19																	43698728		2201	4295	6496	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698728C>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1007G>T	19.37:g.43698728C>A	ENSP00000384770:p.Ser336Ile					PSG4_ENST00000244295.9_Missense_Mutation_p.S243I|PSG4_ENST00000433626.2_Missense_Mutation_p.S243I	p.S336I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			5	1244	-		Prostate(69;0.00682)	336			Ig-like C2-type 3.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1007G>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	2.508	-0.313692	0.05422	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.11495	2.77;2.77;2.77	1.4	0.141	0.14811	Immunoglobulin-like (1);	.	.	.	.	T	0.10637	0.0260	N	0.13140	0.3	0.09310	N	1	B;B;B	0.32302	0.048;0.001;0.363	B;B;P	0.50896	0.189;0.005;0.653	T	0.51356	-0.8716	9	0.17369	T	0.5	.	5.4507	0.16563	0.0:0.389:0.611:0.0	.	243;243;336	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	243;336;243	ENSP00000244295:S243I;ENSP00000384770:S336I;ENSP00000387864:S243I	ENSP00000244295:S243I	S	-	2	0	PSG4	48390568	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.180000	0.03088	-0.099000	0.12263	-0.551000	0.04211	AGC		0.483	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		188	800	1	0	2.04701e-75	1	2.61054e-75	188	800				
CNTRL	11064	broad.mit.edu	37	9	123852648	123852648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123852648C>A	ENST00000373855.1	+	4	573	c.313C>A	c.(313-315)Ctt>Att	p.L105I	CNTRL_ENST00000238341.5_Missense_Mutation_p.L105I|CNTRL_ENST00000373865.2_Missense_Mutation_p.L105I			Q7Z7A1	CNTRL_HUMAN	centriolin	105					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATCTCTGAACCTTTCACTTTC	0.348																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(313-315)Ctt>Att		centriolin							84.0	89.0	87.0					9																	123852648		2203	4299	6502	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123852648C>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.313C>A	9.37:g.123852648C>A	ENSP00000362962:p.Leu105Ile					CNTRL_ENST00000373865.2_Missense_Mutation_p.L105I|CNTRL_ENST00000238341.5_Missense_Mutation_p.L105I	p.L105I			Q7Z7A1	CNTRL_HUMAN			4	573	+			105					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.313C>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774407	0.70107	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.34072	1.38;1.38	4.69	4.69	0.59074	.	.	.	.	.	T	0.61009	0.2313	M	0.76574	2.34	0.39025	D	0.959823	D	0.69078	0.997	D	0.78314	0.991	T	0.68119	-0.5493	9	0.66056	D	0.02	.	16.9587	0.86266	0.0:1.0:0.0:0.0	.	105	Q7Z7A1	CNTRL_HUMAN	I	105	ENSP00000362962:L105I;ENSP00000238341:L105I	ENSP00000238341:L105I	L	+	1	0	CNTRL	122892469	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	5.832000	0.69337	2.313000	0.78055	0.585000	0.79938	CTT		0.348	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		31	344	1	0	2.61193e-14	1	2.83483e-14	31	344				
TMEM95	339168	broad.mit.edu	37	17	7259562	7259562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259562G>A	ENST00000576060.1	+	5	403	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	TMEM95_ENST00000389982.4_Missense_Mutation_p.V126M|TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	126						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GGGGACGGAGGTGTCCTGCTG	0.687											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389982.4																			0				large_intestine(1)|lung(2)	3						c.(376-378)Gtg>Atg		transmembrane protein 95							30.0	32.0	31.0					17																	7259562		2203	4299	6502	SO:0001583	missense	339168					integral to membrane		g.chr17:7259562G>A		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.376G>A	17.37:g.7259562G>A	ENSP00000460828:p.Val126Met		OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M|TMEM95_ENST00000576060.1_Missense_Mutation_p.V126M	p.V126M			Q3KNT9	TMM95_HUMAN			5	458	+		Prostate(122;0.173)	126					B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.376G>A		.	.	.	.	.	.	.	.	.	.	G	16.04	3.009211	0.54361	.	.	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	5.14	4.17	0.49024	.	0.856802	0.09501	N	0.793645	T	0.40448	0.1117	N	0.19112	0.55	0.09310	N	1	P;D;P	0.58620	0.936;0.983;0.936	P;P;P	0.58873	0.73;0.847;0.73	T	0.26155	-1.0111	9	0.62326	D	0.03	.	9.6214	0.39723	0.0945:0.0:0.9055:0.0	.	126;126;134	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	M	126;134	.	ENSP00000331466:V134M	V	+	1	0	TMEM95	7200286	0.786000	0.28738	0.023000	0.16930	0.046000	0.14306	4.520000	0.60524	1.410000	0.46936	-0.291000	0.09656	GTG		0.687	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		53	176	0	0	0	1	0	53	176				
TAB3	257397	broad.mit.edu	37	X	30872954	30872954	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30872954C>A	ENST00000378933.1	-	3	1005	c.828G>T	c.(826-828)caG>caT	p.Q276H	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	276	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTGAGAAGGCTGATAGTTCT	0.522																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(826-828)caG>caT		TGF-beta activated kinase 1/MAP3K7 binding protein 3							111.0	86.0	95.0					X																	30872954		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872954C>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.828G>T	X.37:g.30872954C>A	ENSP00000368215:p.Gln276His					TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H	p.Q276H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1005	-			276			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.828G>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.615977	0.28801	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.78816	-1.03;-1.03;-1.03;-1.21	4.92	-5.93	0.02254	.	0.000000	0.64402	D	0.000002	T	0.79610	0.4475	L	0.32530	0.975	0.36471	D	0.867261	D;D	0.64830	0.994;0.99	D;D	0.75484	0.986;0.969	T	0.80498	-0.1356	10	0.72032	D	0.01	-3.0975	18.21	0.89867	0.0:0.6435:0.0:0.3565	.	276;276	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	H	276	ENSP00000368215:Q276H;ENSP00000368212:Q276H;ENSP00000288422:Q276H;ENSP00000368214:Q276H	ENSP00000288422:Q276H	Q	-	3	2	TAB3	30782875	0.004000	0.15560	0.809000	0.32408	0.390000	0.30446	-1.953000	0.01526	-1.819000	0.01216	-0.415000	0.06103	CAG		0.522	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		26	140	1	0	4.22769e-11	1	4.50498e-11	26	140				
HECTD2	143279	broad.mit.edu	37	10	93256087	93256087	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93256087C>T	ENST00000298068.5	+	15	1732	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000446394.1_Silent_p.G550G|HECTD2_ENST00000536715.1_Silent_p.G135G	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	546	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TACCAGTAGGCATCTGCAATG	0.363																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(1648-1650)ggC>ggT		HECT domain containing E3 ubiquitin protein ligase 2							158.0	133.0	142.0					10																	93256087		2203	4300	6503	SO:0001819	synonymous_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93256087C>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1638C>T	10.37:g.93256087C>T						HECTD2_ENST00000536715.1_Silent_p.G135G|HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000298068.5_Silent_p.G546G	p.G550G			Q5U5R9	HECD2_HUMAN			16	1750	+			546			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	ENST00000298068.5	37	c.1650C>T	CCDS7414.1																																																																																				0.363	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			33	262	0	0	0	1	0	33	262				
C17orf67	339210	broad.mit.edu	37	17	54872520	54872520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54872520C>T	ENST00000575658.1	-	7	1456	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T|C17orf67_ENST00000397861.2_Missense_Mutation_p.A60T	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	84						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TGCTCCAGGGCGAGCAGGTGG	0.552																																						ENST00000397861.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7						c.(178-180)Gcc>Acc		chromosome 17 open reading frame 67							84.0	91.0	89.0					17																	54872520		2099	4233	6332	SO:0001583	missense	339210					extracellular region		g.chr17:54872520C>T	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.250G>A	17.37:g.54872520C>T	ENSP00000461483:p.Ala84Thr					C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T|C17orf67_ENST00000575658.1_Missense_Mutation_p.A84T	p.A60T			Q0P5P2	CQ067_HUMAN			7	1457	-	Breast(9;2.49e-06)		84						Missense_Mutation	SNP	ENST00000575658.1	37	c.178G>A		.	.	.	.	.	.	.	.	.	.	C	3.782	-0.045429	0.07452	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.53	0.192	0.15134	.	1.869520	0.04652	U	0.407337	T	0.25344	0.0616	N	0.14661	0.345	0.23132	N	0.998242	B	0.17465	0.022	B	0.08055	0.003	T	0.17806	-1.0357	9	0.16896	T	0.51	-3.7325	8.1756	0.31281	0.0:0.4148:0.3711:0.2141	.	84	Q0P5P2	CQ067_HUMAN	T	84	.	ENSP00000380959:A84T	A	-	1	0	C17orf67	52227519	0.001000	0.12720	0.927000	0.36925	0.158000	0.22134	0.418000	0.21230	-0.098000	0.12285	-1.008000	0.02478	GCC		0.552	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430		10	181	0	0	0	1	0	10	181				
LYST	1130	broad.mit.edu	37	1	235909723	235909723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235909723C>T	ENST00000389794.3	-	29	8059	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	LYST_ENST00000389793.2_Missense_Mutation_p.E2629K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2629					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTAGGGTTCTCTTGGCTCATT	0.438																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(7885-7887)Gag>Aag		lysosomal trafficking regulator							167.0	136.0	146.0					1																	235909723		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235909723C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7885G>A	1.37:g.235909723C>T	ENSP00000374444:p.Glu2629Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E2629K	p.E2629K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		29	8059	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2629					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.7885G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763587	0.69878	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66099	-0.19;-0.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.70595	2.14	0.80722	D	1	P	0.38617	0.64	B	0.33960	0.173	T	0.66937	-0.5797	10	0.45353	T	0.12	.	18.7145	0.91670	0.0:1.0:0.0:0.0	.	2629	Q99698	LYST_HUMAN	K	2629	ENSP00000374444:E2629K;ENSP00000374443:E2629K	ENSP00000374443:E2629K	E	-	1	0	LYST	233976346	1.000000	0.71417	0.859000	0.33776	0.424000	0.31475	7.420000	0.80191	2.413000	0.81919	0.591000	0.81541	GAG		0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			72	318	0	0	0	1	0	72	318				
ENOX1	55068	broad.mit.edu	37	13	43986165	43986165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986165G>A	ENST00000261488.6	-	5	672	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ENOX1_ENST00000412891.1_Missense_Mutation_p.A32V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	32					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTGTCTATCGCTATACTCCC	0.488																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(94-96)gCg>gTg		ecto-NOX disulfide-thiol exchanger 1							126.0	110.0	116.0					13																	43986165		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43986165G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.95C>T	13.37:g.43986165G>A	ENSP00000261488:p.Ala32Val					ENOX1_ENST00000412891.1_Missense_Mutation_p.A32V	p.A32V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	5	672	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	32					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.95C>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942219	0.53079	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.47528	0.84;0.84	5.62	5.62	0.85841	.	0.131462	0.51477	D	0.000099	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	P	0.49253	0.921	B	0.32624	0.149	T	0.19549	-1.0302	10	0.44086	T	0.13	-1.7743	19.0063	0.92852	0.0:0.0:1.0:0.0	.	32	Q8TC92	ENOX1_HUMAN	V	32	ENSP00000261488:A32V;ENSP00000415054:A32V	ENSP00000261488:A32V	A	-	2	0	ENOX1	42884165	1.000000	0.71417	0.958000	0.39756	0.878000	0.50629	4.105000	0.57797	2.809000	0.96659	0.467000	0.42956	GCG		0.488	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		40	241	0	0	0	1	0	40	241				
FAM96A	84191	broad.mit.edu	37	15	64380897	64380897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64380897G>A	ENST00000300030.3	-	2	527	c.278C>T	c.(277-279)gCg>gTg	p.A93V	FAM96A_ENST00000557835.1_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V|FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	93					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATAAGAGTCGCCAAAGAGCA	0.343																																						ENST00000557835.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(277-279)gCg>gTg		family with sequence similarity 96, member A							74.0	68.0	70.0					15																	64380897		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64380897G>A		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.278C>T	15.37:g.64380897G>A	ENSP00000300030:p.Ala93Val					FAM96A_ENST00000300030.3_Missense_Mutation_p.A93V|FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V	p.A93V			Q9H5X1	FA96A_HUMAN			2	304	-			93					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.278C>T	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099840	0.94197	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.057092	0.64402	N	0.000001	T	0.79695	0.4490	M	0.76727	2.345	0.80722	D	1	D;P	0.89917	1.0;0.892	D;B	0.91635	0.999;0.201	T	0.80522	-0.1345	9	0.62326	D	0.03	-22.9898	17.573	0.87940	0.0:0.0:1.0:0.0	.	93;93	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	V	93	.	ENSP00000300030:A93V	A	-	2	0	FAM96A	62167950	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.339000	0.96797	2.735000	0.93741	0.650000	0.86243	GCG		0.343	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		30	110	0	0	0	1	0	30	110				
ABCC2	1244	broad.mit.edu	37	10	101572802	101572802	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101572802A>C	ENST00000370449.4	+	16	2108	c.1995A>C	c.(1993-1995)caA>caC	p.Q665H		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	665	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGGCAGGCCAACTTGTGGCTG	0.493																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1993-1995)caA>caC		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						92.0	91.0	91.0					10																	101572802		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101572802A>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1995A>C	10.37:g.101572802A>C	ENSP00000359478:p.Gln665His						p.Q665H	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	16	2108	+		Colorectal(252;0.234)	665			ABC transporter 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1995A>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813457	0.32053	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.79	-11.6	0.00059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.582342	0.18986	N	0.125740	D	0.86066	0.5844	M	0.64676	1.99	0.22880	N	0.998617	B	0.06786	0.001	B	0.06405	0.002	T	0.65380	-0.6182	10	0.66056	D	0.02	-0.0442	4.9829	0.14175	0.5568:0.1589:0.1597:0.1246	.	665	Q92887	MRP2_HUMAN	H	665	ENSP00000359478:Q665H	ENSP00000359478:Q665H	Q	+	3	2	ABCC2	101562792	0.000000	0.05858	0.000000	0.03702	0.676000	0.39594	-4.119000	0.00291	-2.567000	0.00470	-0.924000	0.02725	CAA		0.493	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		15	430	0	0	0	1	0	15	430				
NFATC4	4776	broad.mit.edu	37	14	24838944	24838944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24838944C>T	ENST00000250373.4	+	2	481	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S|NFATC4_ENST00000413692.2_Missense_Mutation_p.P177S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P146S	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	114	Calcineurin-binding.|Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCGAGTGTCCCAGCATCCG	0.687																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(529-531)Ccc>Tcc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							13.0	15.0	14.0					14																	24838944		2192	4262	6454	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24838944C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.340C>T	14.37:g.24838944C>T	ENSP00000250373:p.Pro114Ser					NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P114S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P146S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S	p.P177S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	673	+			114			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.529C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028917	0.75504	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	3.48	3.48	0.39840	.	0.000000	0.53938	D	0.000055	T	0.32585	0.0834	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.994;0.996;0.992	T	0.09314	-1.0680	10	0.87932	D	0	-4.9353	12.5733	0.56349	0.0:1.0:0.0:0.0	.	102;102;146;146;127;127;127;177;177;102;146;91;177;114	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	S	177;177;127;127;127;146;146;146;114;114;114;114;91;44;44;44;102;44;102;102	ENSP00000388910:P177S;ENSP00000452039:P177S;ENSP00000451224:P127S;ENSP00000450644:P127S;ENSP00000388668:P127S;ENSP00000439350:P146S;ENSP00000452270:P146S;ENSP00000451502:P146S;ENSP00000451151:P114S;ENSP00000451853:P114S;ENSP00000250373:P114S;ENSP00000450590:P114S;ENSP00000452352:P91S;ENSP00000452349:P44S;ENSP00000450469:P44S;ENSP00000450733:P44S;ENSP00000451454:P102S;ENSP00000451284:P44S;ENSP00000396788:P102S;ENSP00000450686:P102S	ENSP00000250373:P114S	P	+	1	0	NFATC4	23908784	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.886000	0.75611	1.797000	0.52628	0.558000	0.71614	CCC		0.687	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		28	121	0	0	0	1	0	28	121				
PLAGL1	5325	broad.mit.edu	37	6	144263595	144263595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263595G>A	ENST00000360537.2	-	5	2271	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	PLAGL1_ENST00000429150.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000354765.2_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	120					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CCACAGGTGAGGTCCCCACTG	0.597											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2																			0				endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13						c.(358-360)Ctc>Ttc		pleiomorphic adenoma gene-like 1							74.0	67.0	70.0					6																	144263595		2203	4300	6503	SO:0001583	missense	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144263595G>A	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.358C>T	6.37:g.144263595G>A	ENSP00000353734:p.Leu120Phe		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000354765.2_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000429150.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F	p.L120F			Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	5	2271	-			120					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	c.358C>T	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772300	0.90108	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.98;2.98;2.98;2.92;2.98	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000018	T	0.06962	0.0177	N	0.02751	-0.505	0.58432	D	0.999999	P	0.43519	0.809	P	0.53722	0.733	T	0.51616	-0.8683	10	0.51188	T	0.08	-42.4362	19.8676	0.96824	0.0:0.0:1.0:0.0	.	120	Q9UM63	PLAL1_HUMAN	F	120;120;120;120;120;120;68;68;68;120;68	ENSP00000353734:L120F;ENSP00000346810:L120F;ENSP00000400929:L120F;ENSP00000398409:L120F;ENSP00000376125:L120F;ENSP00000400060:L120F;ENSP00000392418:L68F;ENSP00000376124:L68F;ENSP00000356544:L68F;ENSP00000356543:L120F;ENSP00000395960:L68F	ENSP00000346810:L120F	L	-	1	0	PLAGL1	144305288	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.870000	0.87175	2.941000	0.99782	0.655000	0.94253	CTC		0.597	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			6	193	0	0	0	1	0	6	193				
PTPRZ1	5803	broad.mit.edu	37	7	121568253	121568253	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121568253A>C	ENST00000393386.2	+	2	513	c.102A>C	c.(100-102)gaA>gaC	p.E34D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E34D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	34					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AACTTGTTGAAGAGATTGGCT	0.274																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(100-102)gaA>gaC		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							103.0	125.0	117.0					7																	121568253		2202	4296	6498	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121568253A>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.102A>C	7.37:g.121568253A>C	ENSP00000377047:p.Glu34Asp					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E34D	p.E34D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			2	513	+			34					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.102A>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.950785	0.53186	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.48836	0.82;0.8	5.84	3.49	0.39957	.	0.000000	0.64402	D	0.000007	T	0.51839	0.1698	L	0.29908	0.895	0.25239	N	0.989767	D;D	0.76494	0.994;0.999	D;D	0.78314	0.97;0.991	T	0.39078	-0.9631	10	0.49607	T	0.09	.	8.349	0.32290	0.8468:0.0:0.1532:0.0	.	34;34	C9JFM0;P23471	.;PTPRZ_HUMAN	D	34	ENSP00000377047:E34D;ENSP00000410000:E34D	ENSP00000377047:E34D	E	+	3	2	PTPRZ1	121355489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.940000	0.49003	0.480000	0.27534	-0.250000	0.11733	GAA		0.274	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		129	670	0	0	0	1	0	129	670				
FES	2242	broad.mit.edu	37	15	91435948	91435948	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91435948C>T	ENST00000328850.3	+	14	1861	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	FES_ENST00000414248.2_Silent_p.G445G|FES_ENST00000450438.2_Silent_p.G445G|FES_ENST00000394302.1_Silent_p.G445G|FES_ENST00000444422.2_Silent_p.G503G|FES_ENST00000394300.3_Silent_p.G515G	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	573	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAACTTTGGCGAAGTGTTCA	0.597																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1717-1719)ggC>ggT		feline sarcoma oncogene							64.0	57.0	59.0					15																	91435948		2197	4297	6494	SO:0001819	synonymous_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91435948C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1719C>T	15.37:g.91435948C>T						FES_ENST00000450438.2_Silent_p.G445G|FES_ENST00000394302.1_Silent_p.G445G|FES_ENST00000394300.3_Silent_p.G515G|FES_ENST00000414248.2_Silent_p.G445G|FES_ENST00000444422.2_Silent_p.G503G	p.G573G	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		14	1861	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		573			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.1719C>T	CCDS10365.1																																																																																				0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		19	78	0	0	0	1	0	19	78				
CDK8	1024	broad.mit.edu	37	13	26923313	26923313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923313C>T	ENST00000381527.3	+	3	812	c.309C>T	c.(307-309)gaC>gaT	p.D103D	CDK8_ENST00000536792.1_Silent_p.D103D	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTGAACATGACCTCTGGGTAA	0.413																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(307-309)gaC>gaT		cyclin-dependent kinase 8							186.0	164.0	172.0					13																	26923313		2203	4300	6503	SO:0001819	synonymous_variant	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26923313C>T	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.309C>T	13.37:g.26923313C>T						CDK8_ENST00000536792.1_Silent_p.D103D	p.D103D	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	3	812	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	103			Protein kinase.		Q5VUF3|Q6ISB5	Silent	SNP	ENST00000381527.3	37	c.309C>T	CCDS9317.1																																																																																				0.413	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			27	601	0	0	0	1	0	27	601				
MCOLN1	57192	broad.mit.edu	37	19	7591439	7591439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7591439G>A	ENST00000264079.6	+	3	477	c.352G>A	c.(352-354)Gca>Aca	p.A118T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	118					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGACACCTTCGCAGCCTACAC	0.632																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(352-354)Gca>Aca		mucolipin 1							147.0	124.0	132.0					19																	7591439		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7591439G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.352G>A	19.37:g.7591439G>A	ENSP00000264079:p.Ala118Thr						p.A118T	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			3	477	+			118					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.352G>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020411	0.93462	.	.	ENSG00000090674	ENST00000264079	T	0.61158	0.13	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.61703	1.905	0.80722	D	1	D	0.62365	0.991	P	0.53809	0.735	T	0.64283	-0.6444	10	0.32370	T	0.25	.	16.8808	0.86062	0.0:0.0:1.0:0.0	.	118	Q9GZU1	MCLN1_HUMAN	T	118	ENSP00000264079:A118T	ENSP00000264079:A118T	A	+	1	0	MCOLN1	7497439	1.000000	0.71417	0.119000	0.21687	0.983000	0.72400	7.659000	0.83766	2.572000	0.86782	0.655000	0.94253	GCA		0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		107	544	0	0	0	1	0	107	544				
PLEC	5339	broad.mit.edu	37	8	145007091	145007091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007091T>G	ENST00000322810.4	-	14	2187	c.2018A>C	c.(2017-2019)cAg>cCg	p.Q673P	PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P|PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P|PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	673	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACACGGTGCTGGTTCTCCTC	0.672																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(2017-2019)cAg>cCg		plectin							23.0	27.0	26.0					8																	145007091		2071	4208	6279	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145007091T>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2018A>C	8.37:g.145007091T>G	ENSP00000323856:p.Gln673Pro					PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P|PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P	p.Q673P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			14	2187	-			673			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2018A>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665375	0.47677	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.12	5.12	0.69794	.	0.000000	0.64402	U	0.000011	D	0.96605	0.8892	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.97195	0.9860	10	0.87932	D	0	.	13.8973	0.63781	0.0:0.0:0.0:1.0	.	563;522;514;673;504;536;540;536	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	536;540;536;504;673;514;522;563;559;580	ENSP00000344848:Q536P;ENSP00000350277:Q540P;ENSP00000346602:Q536P;ENSP00000381756:Q504P;ENSP00000323856:Q673P;ENSP00000347044:Q514P;ENSP00000348702:Q522P;ENSP00000388180:Q563P;ENSP00000434583:Q559P;ENSP00000437303:Q580P	ENSP00000323856:Q673P	Q	-	2	0	PLEC	145079079	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.587000	0.67510	1.936000	0.56123	0.523000	0.50628	CAG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		34	153	0	0	0	1	0	34	153				
MCM6	4175	broad.mit.edu	37	2	136614334	136614334	+	Silent	SNP	G	G	A	rs372757156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136614334G>A	ENST00000264156.2	-	11	1650	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	530	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AGAAGAGATCGAATCGGGACA	0.413																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1588-1590)ttC>ttT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)	G		1,4405	2.1+/-5.4	0,1,2202	137.0	132.0	134.0		1590	4.5	1.0	2		134	0,8600		0,0,4300	no	coding-synonymous	MCM6	NM_005915.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		530/822	136614334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136614334G>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1590C>T	2.37:g.136614334G>A						MCM6_ENST00000492091.1_Intron	p.F530F	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	11	1650	-			530			MCM.		B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.1590C>T	CCDS2179.1																																																																																				0.413	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		134	282	0	0	0	1	0	134	282				
XIRP2	129446	broad.mit.edu	37	2	168100760	168100760	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168100760A>C	ENST00000409195.1	+	9	2947	c.2858A>C	c.(2857-2859)gAa>gCa	p.E953A	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	778					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATATCTTTGAATCAAACAAT	0.343																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2857-2859)gAa>gCa		xin actin-binding repeat containing 2							48.0	46.0	46.0					2																	168100760		1843	4084	5927	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100760A>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2858A>C	2.37:g.168100760A>C	ENSP00000386840:p.Glu953Ala					XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.E953A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2947	+			778					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2858A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.373911	0.61624	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.15139	2.49;2.49;2.45	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.43212	-0.9405	10	0.72032	D	0.01	-24.7473	16.3053	0.82846	1.0:0.0:0.0:0.0	.	778;778;731	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	953;953;731	ENSP00000386840:E953A;ENSP00000295237:E953A;ENSP00000387255:E731A	ENSP00000295237:E953A	E	+	2	0	XIRP2	167809006	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAA		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		40	252	0	0	0	1	0	40	252				
NDUFA10	4705	broad.mit.edu	37	2	240960761	240960761	+	Missense_Mutation	SNP	C	C	T	rs529791334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240960761C>T	ENST00000252711.2	-	3	413	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T|NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A105T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	105					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		TAGTCGGTGGCGAGGGGCTTC	0.488											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(313-315)Gcc>Acc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						91.0	91.0	91.0					2																	240960761		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240960761C>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.313G>A	2.37:g.240960761C>T	ENSP00000252711:p.Ala105Thr		OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2423	NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T|NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A105T	p.A105T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	3	413	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	105					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.313G>A	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892791	0.17613	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	T;T;T;T;T	0.77489	-1.1;-1.1;-1.06;-1.08;-1.06	4.25	1.38	0.22167	.	0.804462	0.11893	N	0.519457	T	0.61211	0.2329	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.44817	-0.9303	10	0.27785	T	0.31	-16.1577	4.4684	0.11700	0.0:0.4281:0.3652:0.2067	.	105;105;110;105	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	T	105	ENSP00000252711:A105T;ENSP00000385697:A105T;ENSP00000411527:A105T;ENSP00000302321:A105T;ENSP00000383975:A105T	ENSP00000252711:A105T	A	-	1	0	NDUFA10	240609434	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.501000	0.22578	0.496000	0.27904	0.563000	0.77884	GCC		0.488	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		73	208	0	0	0	1	0	73	208				
DNAJA1	3301	broad.mit.edu	37	9	33034281	33034281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33034281C>T	ENST00000330899.4	+	6	894	c.711C>T	c.(709-711)ggC>ggT	p.G237G	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.G80G	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	237					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGGAGCCAGGCGATATTATCA	0.368																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(709-711)ggC>ggT		DnaJ (Hsp40) homolog, subfamily A, member 1							83.0	79.0	81.0					9																	33034281		2203	4300	6503	SO:0001819	synonymous_variant	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33034281C>T	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.711C>T	9.37:g.33034281C>T						DNAJA1_ENST00000544625.1_Silent_p.G80G|DNAJA1_ENST00000495015.1_3'UTR	p.G237G	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	6	894	+			237					Q5T7Q0|Q86TL9	Silent	SNP	ENST00000330899.4	37	c.711C>T	CCDS6533.1																																																																																				0.368	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			12	155	0	0	0	1	0	12	155				
ROBO2	6092	broad.mit.edu	37	3	77645811	77645811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77645811C>T	ENST00000461745.1	+	19	3664	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	ROBO2_ENST00000332191.8_Missense_Mutation_p.P922S|ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	922					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCAGCTATCCATGGCTTGC	0.458																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2764-2766)Cca>Tca		roundabout, axon guidance receptor, homolog 2 (Drosophila)							137.0	133.0	135.0					3																	77645811		1860	4110	5970	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77645811C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2764C>T	3.37:g.77645811C>T	ENSP00000417164:p.Pro922Ser					ROBO2_ENST00000332191.8_Missense_Mutation_p.P922S|ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S	p.P922S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	19	3664	+			922					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2764C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182120	0.78677	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.67698	-0.28;-0.24;-0.18	6.16	6.16	0.99307	.	0.000000	0.45606	D	0.000341	D	0.83422	0.5251	M	0.76838	2.35	0.32123	N	0.587765	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	T	0.81420	-0.0941	9	0.46703	T	0.11	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	938;922;922	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	938;938;942;922;922	ENSP00000417335:P938S;ENSP00000417164:P922S;ENSP00000327536:P922S	ENSP00000327536:P922S	P	+	1	0	ROBO2	77728501	1.000000	0.71417	0.990000	0.47175	0.906000	0.53458	7.270000	0.78493	2.937000	0.99478	0.650000	0.86243	CCA		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		130	581	0	0	0	1	0	130	581				
BCLAF1	9774	broad.mit.edu	37	6	136597377	136597377	+	Missense_Mutation	SNP	C	C	T	rs369285091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136597377C>T	ENST00000531224.1	-	5	1538	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	429					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCAGTATTCCGGTGAGATGC	0.403																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1285-1287)cGg>cAg		BCL2-associated transcription factor 1		C	GLN/ARG,,GLN/ARG	0,4406		0,0,2203	211.0	207.0	209.0		1280,,1286	5.2	1.0	6		209	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	43,,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,,probably-damaging	427/870,,429/921	136597377	2,13004	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597377C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1286G>A	6.37:g.136597377C>T	ENSP00000435210:p.Arg429Gln					BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q	p.R429Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1538	-	Colorectal(23;0.24)		429					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1286G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649123	0.47362	0.0	2.33E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000027	T	0.03305	0.0096	N	0.08118	0	0.44079	D	0.996831	P;P;P	0.44578	0.838;0.838;0.838	B;B;B	0.31614	0.133;0.133;0.133	T	0.44019	-0.9355	10	0.41790	T	0.15	-4.7974	19.2213	0.93797	0.0:1.0:0.0:0.0	.	427;427;429	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	Q	429;427;429;427;427;429	ENSP00000435210:R429Q;ENSP00000229446:R427Q;ENSP00000435441:R429Q;ENSP00000434826:R427Q;ENSP00000376159:R427Q;ENSP00000431734:R429Q	ENSP00000229446:R427Q	R	-	2	0	BCLAF1	136639070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.194000	0.58393	2.615000	0.88500	0.650000	0.86243	CGG		0.403	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		116	1207	0	0	0	1	0	116	1207				
PTPRB	5787	broad.mit.edu	37	12	70953285	70953285	+	Missense_Mutation	SNP	T	T	C	rs199666344		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953285T>C	ENST00000261266.5	-	16	3927	c.3898A>G	c.(3898-3900)Aga>Gga	p.R1300G	PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1518G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1300	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGTGCATCTCTGGGCAACCAC	0.478													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19026	0.0		0.0	False		,,,				2504	0.0					ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4552-4554)Aga>Gga		protein tyrosine phosphatase, receptor type, B		T	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	0,3972		0,0,1986	251.0	245.0	247.0		4552,3628,3628,3898	1.0	0.0	12		247	2,8334		0,2,4166	yes	missense,missense,missense,missense	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	125,125,125,125	0,2,6152	CC,CT,TT		0.024,0.0,0.0162	benign,benign,benign,benign	1518/2216,1210/1908,1210/1908,1300/1998	70953285	2,12306	1986	4168	6154	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70953285T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3898A>G	12.37:g.70953285T>C	ENSP00000261266:p.Arg1300Gly					PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1300G|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G	p.R1518G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		18	4596	-	Renal(347;0.236)		1300			Fibronectin type-III 17.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4552A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	8.024	0.760358	0.15914	0.0	2.4E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;3.64	6.11	0.985	0.19779	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.464614	0.25789	N	0.028297	T	0.33294	0.0858	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.002;0.001;0.004	B;B;B;B;B;B;B	0.12837	0.008;0.008;0.005;0.002;0.005;0.008;0.007	T	0.17899	-1.0354	10	0.20046	T	0.44	.	10.0031	0.41940	0.0:0.0624:0.4667:0.4709	.	1210;1210;1397;1517;1518;1300;1430	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	G	1518;1210;1430;1210;1210;1300;1517;1397	ENSP00000334928:R1518G;ENSP00000393028:R1210G;ENSP00000448058:R1430G;ENSP00000438927:R1210G;ENSP00000447302:R1210G;ENSP00000261266:R1300G;ENSP00000448349:R1517G;ENSP00000446982:R1397G	ENSP00000261266:R1300G	R	-	1	2	PTPRB	69239552	0.000000	0.05858	0.015000	0.15790	0.331000	0.28603	0.325000	0.19628	-0.059000	0.13154	-0.316000	0.08728	AGA		0.478	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			190	740	0	0	0	1	0	190	740				
C18orf8	29919	broad.mit.edu	37	18	21083650	21083650	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21083650T>C	ENST00000269221.3	+	1	178	c.68T>C	c.(67-69)gTc>gCc	p.V23A	C18orf8_ENST00000590868.1_Missense_Mutation_p.V23A	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	23						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCGAACCCTGTCAACTGCGTC	0.741																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(67-69)gTc>gCc		chromosome 18 open reading frame 8							45.0	46.0	46.0					18																	21083650		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21083650T>C	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.68T>C	18.37:g.21083650T>C	ENSP00000269221:p.Val23Ala					C18orf8_ENST00000590868.1_Missense_Mutation_p.V23A	p.V23A	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			1	178	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		23					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.68T>C	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980534	0.74474	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.15834	2.39	4.54	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.24721	0.067;0.11	B;B	0.17433	0.008;0.018	T	0.03619	-1.1019	10	0.07644	T	0.81	-28.803	9.3776	0.38292	0.0:0.0858:0.0:0.9142	.	23;23	Q96DM3;F5H2W0	MIC1_HUMAN;.	A	23	ENSP00000269221:V23A	ENSP00000269221:V23A	V	+	2	0	C18orf8	19337648	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.103000	0.64578	1.675000	0.50919	0.460000	0.39030	GTC		0.741	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		57	306	0	0	0	1	0	57	306				
LACE1	246269	broad.mit.edu	37	6	108645053	108645053	+	Missense_Mutation	SNP	G	G	T	rs548447273		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108645053G>T	ENST00000368977.4	+	2	350	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	55						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ACATCCGAGAGCATGACCCCA	0.393																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(163-165)aGc>aTc		lactation elevated 1							97.0	91.0	93.0					6																	108645053		2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108645053G>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.164G>T	6.37:g.108645053G>T	ENSP00000357973:p.Ser55Ile						p.S55I	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	2	350	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	55					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.164G>T	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024493	0.19433	.	.	ENSG00000135537	ENST00000368977;ENST00000437715	.	.	.	5.44	-2.02	0.07388	.	1.142340	0.06187	N	0.680538	T	0.06508	0.0167	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	9	0.35671	T	0.21	0.0101	2.4287	0.04466	0.4639:0.2219:0.2013:0.1129	.	55	Q8WV93	LACE1_HUMAN	I	55;22	.	ENSP00000357973:S55I	S	+	2	0	LACE1	108751746	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.056000	0.11787	-0.868000	0.04058	-0.275000	0.10095	AGC		0.393	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		78	337	1	0	4.34595e-34	1	5.16371e-34	78	337				
BACE1	23621	broad.mit.edu	37	11	117165945	117165945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117165945G>A	ENST00000313005.6	-	3	929	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000514464.1_Intron	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	157					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ATGTTGGCACGCACAGTGACG	0.592																																						ENST00000313005.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(469-471)Cgt>Tgt		beta-site APP-cleaving enzyme 1							200.0	152.0	168.0					11																	117165945		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117165945G>A	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.469C>T	11.37:g.117165945G>A	ENSP00000318585:p.Arg157Cys					BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C	p.R157C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	3	929	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	157					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.469C>T	CCDS8383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.390921|4.390921	0.82902|0.82902	.|.	.|.	ENSG00000186318|ENSG00000186318	ENST00000504995|ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000513780	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.052098	.|0.64402	.|D	.|0.000001	T|T	0.60996|0.60996	0.2312|0.2312	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|P;D;D;P	.|0.68039	.|0.893;0.932;0.955;0.855	T|T	0.63668|0.63668	-0.6585|-0.6585	5|10	.|0.72032	.|D	.|0.01	.|.	12.2825|12.2825	0.54771|0.54771	0.0:0.0:0.7325:0.2675|0.0:0.0:0.7325:0.2675	.|.	.|57;57;157;157	.|F8W807;E9PE65;P56817;P56817-2	.|.;.;BACE1_HUMAN;.	V|C	86|157;57;157;57;157	.|ENSP00000318585:R157C;ENSP00000431848:R157C;ENSP00000422461:R57C;ENSP00000424536:R157C	.|ENSP00000318585:R157C	A|R	-|-	2|1	0|0	BACE1|BACE1	116671155|116671155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.410000|3.410000	0.52664|0.52664	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.592	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			16	472	0	0	0	1	0	16	472				
ACTL9	284382	broad.mit.edu	37	19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	rs139329295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808430C>T	ENST00000324436.3	-	1	742	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(622-624)Gtc>Atc		actin-like 9							49.0	46.0	47.0					19																	8808430		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808430C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.622G>A	19.37:g.8808430C>T	ENSP00000316674:p.Val208Ile						p.V208I	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	742	-			208					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.622G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253424	0.22965	.	.	ENSG00000181786	ENST00000324436	D	0.95622	-3.76	4.34	4.34	0.51931	.	0.000000	0.41500	D	0.000878	D	0.87281	0.6138	L	0.28192	0.835	0.30637	N	0.756871	P	0.39131	0.661	B	0.32762	0.152	T	0.83212	-0.0073	10	0.02654	T	1	.	9.7105	0.40243	0.0:0.9027:0.0:0.0973	.	208	Q8TC94	ACTL9_HUMAN	I	208	ENSP00000316674:V208I	ENSP00000316674:V208I	V	-	1	0	ACTL9	8669430	0.788000	0.28762	0.972000	0.41901	0.959000	0.62525	1.294000	0.33365	2.420000	0.82092	0.462000	0.41574	GTC		0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		64	265	0	0	0	1	0	64	265				
ADCY5	111	broad.mit.edu	37	3	123049816	123049816	+	Silent	SNP	G	G	A	rs148753023	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123049816G>A	ENST00000462833.1	-	5	2778	c.1566C>T	c.(1564-1566)tgC>tgT	p.C522C	ADCY5_ENST00000309879.5_Silent_p.C172C|ADCY5_ENST00000491190.1_Silent_p.C155C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	522	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCCCGAGACGCAGTAATAAC	0.483													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19864	0.004		0.0	False		,,,				2504	0.0					ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1564-1566)tgC>tgT		adenylate cyclase 5		G	,	1,4405	2.1+/-5.4	0,1,2202	79.0	71.0	74.0		516,1566	-4.6	0.9	3	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	172/912,522/1262	123049816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123049816G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1566C>T	3.37:g.123049816G>A						ADCY5_ENST00000309879.5_Silent_p.C172C|ADCY5_ENST00000491190.1_Silent_p.C155C	p.C522C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	5	2778	-			522			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1566C>T	CCDS3022.1																																																																																				0.483	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		51	209	0	0	0	1	0	51	209				
MTPAP	55149	broad.mit.edu	37	10	30629378	30629378	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30629378C>T	ENST00000263063.4	-	3	375	c.332G>A	c.(331-333)gGt>gAt	p.G111D	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Splice_Site_p.G241D	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	111					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGCATAGAGACCCTATACCAA	0.353																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.e4-1		mitochondrial poly(A) polymerase																																				SO:0001630	splice_region_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30629378C>T	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.331-1G>A	10.37:g.30629378C>T						MTPAP_ENST00000263063.3_Splice_Site_p.G111_splice|MTPAP_ENST00000488290.1_5'UTR	p.G241_splice			Q9NVV4	PAPD1_HUMAN			4	721	-			111					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Splice_Site	SNP	ENST00000263063.4	37	c.720_splice	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440161	0.83993	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581;ENST00000421701	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.952	T	0.47209	-0.9135	10	0.16420	T	0.52	-19.6079	18.5135	0.90926	0.0:1.0:0.0:0.0	.	73;241;111	Q5T851;Q9NVV4-2;Q9NVV4	.;.;PAPD1_HUMAN	D	241;111;46;73	ENSP00000350820:G241D;ENSP00000263063:G111D;ENSP00000404392:G46D;ENSP00000394118:G73D	ENSP00000263063:G111D	G	-	2	0	MTPAP	30669384	1.000000	0.71417	0.994000	0.49952	0.886000	0.51366	6.292000	0.72725	2.431000	0.82371	0.591000	0.81541	GGT		0.353	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109	Missense_Mutation	60	312	0	0	0	1	0	60	312				
CHD6	84181	broad.mit.edu	37	20	40111947	40111947	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40111947A>G	ENST00000373233.3	-	16	2646		c.e16+1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CACAAGTCTCACCTTCTCTGG	0.413																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.e16+1		chromodomain helicase DNA binding protein 6							78.0	69.0	72.0					20																	40111947		2203	4300	6503	SO:0001630	splice_region_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40111947A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2468+1T>C	20.37:g.40111947A>G						CHD6_ENST00000309279.7_Intron		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			16	2646	-		Myeloproliferative disorder(115;0.00425)						Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Splice_Site	SNP	ENST00000373233.3	37		CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316159	0.81469	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2157	0.73264	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD6	39545361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.055000	0.93873	2.241000	0.73720	0.533000	0.62120	.		0.413	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		Intron	35	150	0	0	0	1	0	35	150				
CLSTN3	9746	broad.mit.edu	37	12	7310163	7310163	+	Missense_Mutation	SNP	G	G	A	rs575113186		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7310163G>A	ENST00000266546.6	+	17	3056	c.2606G>A	c.(2605-2607)cGc>cAc	p.R869H	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Missense_Mutation_p.R881H	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	869					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCCTGGTGCGCATCCATTCC	0.662																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2641-2643)cGc>cAc		calsyntenin 3							68.0	58.0	62.0					12																	7310163		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7310163G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2606G>A	12.37:g.7310163G>A	ENSP00000266546:p.Arg869His					CLSTN3_ENST00000266546.6_Missense_Mutation_p.R869H|CLSTN3_ENST00000331148.5_3'UTR	p.R881H			Q9BQT9	CSTN3_HUMAN			16	3180	+			869					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2642G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685658	0.88639	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.39056	1.1;1.1	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.71563	-0.4555	10	0.87932	D	0	-28.1793	18.2262	0.89917	0.0:0.0:1.0:0.0	.	211;881;869	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	H	869;881	ENSP00000266546:R869H;ENSP00000440679:R881H	ENSP00000266546:R869H	R	+	2	0	CLSTN3	7201430	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	9.593000	0.98250	2.619000	0.88677	0.462000	0.41574	CGC		0.662	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		22	126	0	0	0	1	0	22	126				
SLC12A5	57468	broad.mit.edu	37	20	44669988	44669988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44669988G>A	ENST00000454036.2	+	8	993	c.944G>A	c.(943-945)cGc>cAc	p.R315H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R292H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	315					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGTAACCGCACGCTGTCT	0.582																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(943-945)cGc>cAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						92.0	84.0	86.0					20																	44669988		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44669988G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.944G>A	20.37:g.44669988G>A	ENSP00000387694:p.Arg315His					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.R292H	p.R315H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			8	1020	+		Myeloproliferative disorder(115;0.0122)	315					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.944G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188788	0.94923	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.69306	-0.39;-0.39	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.76328	2.33	0.80722	D	1	D;D	0.59357	0.985;0.968	P;B	0.49561	0.615;0.429	T	0.73902	-0.3836	10	0.33141	T	0.24	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	315;292	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	315;292	ENSP00000387694:R315H;ENSP00000243964:R292H	ENSP00000243964:R292H	R	+	2	0	SLC12A5	44103395	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.457000	0.83068	0.655000	0.94253	CGC		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			57	265	0	0	0	1	0	57	265				
BAK1	578	broad.mit.edu	37	6	33541918	33541918	+	Missense_Mutation	SNP	C	C	T	rs376712748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33541918C>T	ENST00000374467.3	-	5	672	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	BAK1_ENST00000442998.2_Silent_p.T148T|BAK1_ENST00000360661.5_Missense_Mutation_p.V142I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	142					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TGCTGGTAGACGTGTAGGGCC	0.597																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(424-426)Gtc>Atc		BCL2-antagonist/killer 1		C	ILE/VAL	0,4406		0,0,2203	57.0	54.0	55.0		424	1.9	0.3	6		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAK1	NM_001188.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	142/212	33541918	1,13005	2203	4300	6503	SO:0001583	missense	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33541918C>T	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.424G>A	6.37:g.33541918C>T	ENSP00000363591:p.Val142Ile					BAK1_ENST00000442998.2_Silent_p.T148T|BAK1_ENST00000360661.5_Missense_Mutation_p.V142I	p.V142I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			5	672	-			142					C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	37	c.424G>A	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881671	0.17467	0.0	1.16E-4	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000360661	T;T	0.11169	2.8;2.8	4.75	1.88	0.25563	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.205916	0.32736	N	0.005701	T	0.03095	0.0091	L	0.45228	1.405	0.80722	D	1	B	0.16166	0.016	B	0.24974	0.057	T	0.32693	-0.9897	10	0.18276	T	0.48	-26.5385	8.2542	0.31746	0.0:0.721:0.0:0.279	.	142	Q16611	BAK_HUMAN	I	122;142;142	ENSP00000363591:V142I;ENSP00000353878:V142I	ENSP00000353878:V142I	V	-	1	0	BAK1	33649896	0.994000	0.37717	0.259000	0.24435	0.351000	0.29236	2.813000	0.48002	0.194000	0.20326	0.485000	0.47835	GTC		0.597	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		62	257	0	0	0	1	0	62	257				
SI	6476	broad.mit.edu	37	3	164735356	164735356	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735356C>A	ENST00000264382.3	-	31	3801	c.3739G>T	c.(3739-3741)Gtg>Ttg	p.V1247L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1247	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTAGCAGCCACCATAGCGTCA	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3739-3741)Gtg>Ttg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						61.0	59.0	60.0					3																	164735356		2202	4297	6499	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735356C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3739G>T	3.37:g.164735356C>A	ENSP00000264382:p.Val1247Leu	HNSCC(35;0.089)					p.V1247L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			31	3801	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1247			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3739G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	3.381	-0.126324	0.06795	.	.	ENSG00000090402	ENST00000264382	D	0.91295	-2.82	5.31	1.04	0.20106	Glycoside hydrolase, superfamily (1);	0.966348	0.08594	N	0.922511	D	0.83681	0.5307	L	0.41906	1.305	0.18873	N	0.999984	B	0.12013	0.005	B	0.21546	0.035	T	0.64892	-0.6300	10	0.11182	T	0.66	.	5.9688	0.19340	0.0:0.502:0.1289:0.3691	.	1247	P14410	SUIS_HUMAN	L	1247	ENSP00000264382:V1247L	ENSP00000264382:V1247L	V	-	1	0	SI	166218050	0.096000	0.21769	0.166000	0.22797	0.012000	0.07955	0.350000	0.20079	0.006000	0.14734	0.591000	0.81541	GTG		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		34	233	1	0	1.57351e-24	1	1.79979e-24	34	233				
KCNS1	3787	broad.mit.edu	37	20	43727300	43727300	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43727300C>T	ENST00000306117.1	-	4	509	c.113G>A	c.(112-114)gGc>gAc	p.G38D	KCNS1_ENST00000537075.1_Missense_Mutation_p.G38D	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	38					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGTGTCGGGGCCCGGGAACTC	0.697																																						ENST00000306117.1																			0				endometrium(1)|lung(3)|ovary(1)|stomach(1)	6						c.(112-114)gGc>gAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1							6.0	7.0	7.0					20																	43727300		1925	4083	6008	SO:0001583	missense	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43727300C>T	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.113G>A	20.37:g.43727300C>T	ENSP00000307694:p.Gly38Asp					KCNS1_ENST00000537075.1_Missense_Mutation_p.G38D	p.G38D	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN			4	509	-		Myeloproliferative disorder(115;0.0122)	38					A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	c.113G>A	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.240233	0.01493	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96104	-3.91;-3.91	4.6	-0.95	0.10372	.	18.571000	0.00481	N	0.000133	D	0.87807	0.6270	N	0.08118	0	0.09310	N	1	B	0.23377	0.084	B	0.23574	0.047	T	0.81019	-0.1122	10	0.18710	T	0.47	.	4.4773	0.11750	0.2814:0.4911:0.0:0.2276	.	38	Q96KK3	KCNS1_HUMAN	D	38	ENSP00000307694:G38D;ENSP00000445595:G38D	ENSP00000307694:G38D	G	-	2	0	KCNS1	43160714	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.458000	0.06737	-0.489000	0.06716	-1.138000	0.01928	GGC		0.697	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		11	58	0	0	0	1	0	11	58				
TRBV7-8	28590	broad.mit.edu	37	7	142099703	142099703	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142099703C>A	ENST00000390359.3	-	0	137									T cell receptor beta variable 7-8																		CCTGTCCTCTCTTTGCGACTT	0.473																																						ENST00000390359.3																			0																				63.0	62.0	62.0					7																	142099703		1881	4119	6000			0							g.chr7:142099703C>A	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099703C>A														0	137	-									RNA	SNP	ENST00000390359.3	37																																																																																						0.473	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		38	219	1	0	5.71845e-15	1	6.23116e-15	38	219				
RAD51AP2	729475	broad.mit.edu	37	2	17698100	17698100	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698100C>T	ENST00000399080.2	-	1	1606	c.1583G>A	c.(1582-1584)aGt>aAt	p.S528N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	528										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTTAAAATACTATTATCTTT	0.239																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1582-1584)aGt>aAt		RAD51 associated protein 2							17.0	16.0	17.0					2																	17698100		1743	3971	5714	SO:0001583	missense	729475							g.chr2:17698100C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1583G>A	2.37:g.17698100C>T	ENSP00000382030:p.Ser528Asn						p.S528N	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1606	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		528						Missense_Mutation	SNP	ENST00000399080.2	37	c.1583G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	2.349	-0.349205	0.05173	.	.	ENSG00000214842	ENST00000399080	T	0.24538	1.85	4.69	-1.83	0.07833	.	.	.	.	.	T	0.12561	0.0305	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.17433	0.018	T	0.27938	-1.0059	9	0.48119	T	0.1	0.6513	6.2097	0.20621	0.0:0.3851:0.1301:0.4848	.	528	Q09MP3	R51A2_HUMAN	N	528	ENSP00000382030:S528N	ENSP00000382030:S528N	S	-	2	0	RAD51AP2	17561581	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.121000	0.10643	-0.266000	0.09339	0.563000	0.77884	AGT		0.239	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		10	50	0	0	0	1	0	10	50				
SLC9C1	285335	broad.mit.edu	37	3	111887888	111887888	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111887888G>T	ENST00000305815.5	-	25	3325	c.3073C>A	c.(3073-3075)Cta>Ata	p.L1025I	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L977I	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1025					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GAGAGCTTTAGTTGCATATTG	0.274																																						ENST00000305815.5																			0											c.(3073-3075)Cta>Ata		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							72.0	79.0	77.0					3																	111887888		2201	4293	6494	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111887888G>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3073C>A	3.37:g.111887888G>T	ENSP00000306627:p.Leu1025Ile					SLC9C1_ENST00000487372.1_Missense_Mutation_p.L977I	p.L1025I	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			25	3325	-			1025					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3073C>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	9.761	1.170208	0.21621	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79845	-1.29;-1.31	6.06	2.17	0.27698	.	0.152620	0.31601	N	0.007364	T	0.82001	0.4942	L	0.46157	1.445	0.09310	N	1	D;D	0.76494	0.968;0.999	P;D	0.78314	0.885;0.991	T	0.70219	-0.4932	10	0.56958	D	0.05	-2.0288	3.568	0.07907	0.6437:0.0:0.1974:0.1589	.	977;1025	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	I	1025;977	ENSP00000306627:L1025I;ENSP00000420688:L977I	ENSP00000306627:L1025I	L	-	1	2	SLC9A10	113370578	0.409000	0.25368	0.065000	0.19835	0.022000	0.10575	0.467000	0.22035	0.114000	0.18032	-0.355000	0.07637	CTA		0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		39	211	1	0	1.04594e-18	1	1.16214e-18	39	211				
TBC1D24	57465	broad.mit.edu	37	16	2546886	2546886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2546886C>T	ENST00000293970.5	+	2	870	c.737C>T	c.(736-738)gCc>gTc	p.A246V	TBC1D24_ENST00000567020.1_Missense_Mutation_p.A246V|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A246V|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A246V	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	246	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GTGGCGCTGGCCATCCTCAAG	0.632																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(736-738)gCc>gTc		TBC1 domain family, member 24							54.0	62.0	59.0					16																	2546886		2139	4229	6368	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546886C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.737C>T	16.37:g.2546886C>T	ENSP00000293970:p.Ala246Val					RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A246V|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A246V|TBC1D24_ENST00000293970.5_Missense_Mutation_p.A246V	p.A246V	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			2	877	+			246			Rab-GAP TBC.		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.737C>T	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511729	0.64522	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.35605	1.3;1.3	5.24	5.24	0.73138	Rab-GAP/TBC domain (3);	0.052315	0.85682	D	0.000000	T	0.50343	0.1610	M	0.64404	1.975	0.80722	D	1	P;P;P	0.50156	0.857;0.932;0.916	P;P;P	0.53401	0.541;0.725;0.604	T	0.44952	-0.9294	10	0.38643	T	0.18	-32.1815	17.4345	0.87547	0.0:1.0:0.0:0.0	.	246;246;246	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	V	246	ENSP00000293970:A246V;ENSP00000390106:A246V	ENSP00000293970:A246V	A	+	2	0	TBC1D24	2486887	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	5.833000	0.69349	2.445000	0.82738	0.655000	0.94253	GCC		0.632	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		42	419	0	0	0	1	0	42	419				
CNGB1	1258	broad.mit.edu	37	16	57973480	57973480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57973480A>C	ENST00000251102.8	-	16	1286	c.1226T>G	c.(1225-1227)gTt>gGt	p.V409G	CNGB1_ENST00000564654.1_5'UTR|CNGB1_ENST00000564448.1_Missense_Mutation_p.V403G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	409					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctccccaacttcctccCA	0.572																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1207-1209)gTt>gGt		cyclic nucleotide gated channel beta 1							92.0	97.0	95.0					16																	57973480		1957	4151	6108	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57973480A>C	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1226T>G	16.37:g.57973480A>C	ENSP00000251102:p.Val409Gly					CNGB1_ENST00000251102.8_Missense_Mutation_p.V409G|CNGB1_ENST00000564654.1_5'UTR	p.V403G			Q14028	CNGB1_HUMAN			16	1268	-			409					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1208T>G	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	0.147	-1.095945	0.01843	.	.	ENSG00000070729	ENST00000251102	T	0.28255	1.62	0.637	-0.447	0.12234	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21965	-1.0230	8	0.66056	D	0.02	.	.	.	.	.	409	Q14028	CNGB1_HUMAN	G	409	ENSP00000251102:V409G	ENSP00000251102:V409G	V	-	2	0	CNGB1	56530981	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.035000	0.13797	-0.191000	0.10448	-0.407000	0.06327	GTT		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		60	269	0	0	0	1	0	60	269				
OR10C1	442194	broad.mit.edu	37	6	29408232	29408232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408232C>T	ENST00000444197.2	+	1	1150	c.440C>T	c.(439-441)gCg>gTg	p.A147V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGGGTCGGCGTGGGCCTGT	0.622																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(439-441)gCg>gTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							80.0	91.0	87.0					6																	29408232		1509	2709	4218	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408232C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.440C>T	6.37:g.29408232C>T	ENSP00000419119:p.Ala147Val					OR11A1_ENST00000377149.1_Intron	p.A147V	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1150	+			147					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.440C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434952	0.43224	.	.	ENSG00000206474	ENST00000444197	T	0.34859	1.34	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001526	T	0.29028	0.0721	N	0.16708	0.43	0.09310	N	1	D	0.67145	0.996	D	0.67725	0.953	T	0.18650	-1.0330	10	0.87932	D	0	.	14.9009	0.70678	0.0:1.0:0.0:0.0	.	147	Q96KK4	O10C1_HUMAN	V	147	ENSP00000419119:A147V	ENSP00000419119:A147V	A	+	2	0	OR10C1	29516211	0.000000	0.05858	0.027000	0.17364	0.033000	0.12548	-1.281000	0.02802	1.805000	0.52779	0.508000	0.49915	GCG		0.622	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			131	448	0	0	0	1	0	131	448				
PAX2	5076	broad.mit.edu	37	10	102584662	102584662	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102584662C>T	ENST00000428433.1	+	9	1640				PAX2_ENST00000361791.3_Missense_Mutation_p.A342V|PAX2_ENST00000370296.2_Missense_Mutation_p.A365V|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000355243.3_Intron	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2						aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCCTTAGAGGCTGCAGTTGGT	0.587																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1093-1095)gCt>gTt		paired box 2							140.0	126.0	131.0					10																	102584662		2203	4300	6503	SO:0001627	intron_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102584662C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1090+156C>T	10.37:g.102584662C>T						PAX2_ENST00000355243.3_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000361791.3_Missense_Mutation_p.A342V|PAX2_ENST00000428433.1_Intron	p.A365V			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	10	1644	+		Colorectal(252;0.234)	169					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.1094C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719917	0.68844	.	.	ENSG00000075891	ENST00000370296;ENST00000361791	T;T	0.32515	1.45;1.45	4.0	3.07	0.35406	.	.	.	.	.	T	0.33760	0.0874	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.54889	0.763	T	0.10965	-1.0607	8	0.15066	T	0.55	.	9.7996	0.40755	0.0:0.7889:0.2111:0.0	.	342	Q02962-4	.	V	365;342	ENSP00000359319:A365V;ENSP00000355069:A342V	ENSP00000355069:A342V	A	+	2	0	PAX2	102574652	0.857000	0.29778	0.106000	0.21319	0.988000	0.76386	0.321000	0.19558	0.758000	0.33059	0.561000	0.74099	GCT		0.587	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				78	348	0	0	0	1	0	78	348				
PPP1R9B	84687	broad.mit.edu	37	17	48218701	48218701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48218701T>G	ENST00000316878.6	-	6	1659	c.1657A>C	c.(1657-1659)Aca>Cca	p.T553P	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	553	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCAGACTTGTTCCATCCACC	0.627																																						ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1657-1659)Aca>Cca		protein phosphatase 1, regulatory subunit 9B							50.0	53.0	52.0					17																	48218701		2048	4181	6229	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48218701T>G	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1657A>C	17.37:g.48218701T>G	ENSP00000475417:p.Thr553Pro					PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.T553P	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN			6	1659	-			553			PDZ.		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.1657A>C																																																																																					0.627	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		12	35	0	0	0	1	0	12	35				
TTN	7273	broad.mit.edu	37	2	179621175	179621175	+	Intron	SNP	C	C	T	rs566456478		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179621175C>T	ENST00000591111.1	-	44	10528				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T3505T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Silent_p.T3676T|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			GGAATTGAGCCGTGTCACCGC	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21903	0.0		0.0	False		,,,				2504	0.001					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.(11026-11028)acG>acA		titin							89.0	86.0	87.0					2																	179621175		1921	4117	6038	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621175C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2535G>A	2.37:g.179621175C>T						TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Silent_p.T3505T|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.T3676T	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)		46	11252	-			3361			Ig-like 22.		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.11028G>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		66	210	0	0	0	1	0	66	210				
PTPN2	5771	broad.mit.edu	37	18	12825835	12825835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12825835G>A	ENST00000309660.5	-	5	562	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	PTPN2_ENST00000591115.1_Missense_Mutation_p.H157Y|PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y|PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	157	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TGTAGTAGATGTACTGTATAA	0.338																																						ENST00000309660.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(469-471)Cat>Tat		protein tyrosine phosphatase, non-receptor type 2							99.0	92.0	94.0					18																	12825835		2203	4299	6502	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12825835G>A	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.469C>T	18.37:g.12825835G>A	ENSP00000311857:p.His157Tyr					PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y|PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y|PTPN2_ENST00000591115.1_Missense_Mutation_p.H157Y	p.H157Y	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN			5	562	-		Lung NSC(161;8.94e-06)	157			Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.469C>T	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304357	0.60305	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.83075	-1.68;-1.68;-1.68	4.38	4.38	0.52667	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000185	D	0.84074	0.5392	N	0.17312	0.475	0.39042	D	0.960154	P;P;B;D;P	0.64830	0.755;0.712;0.268;0.994;0.755	P;P;B;D;P	0.67548	0.649;0.517;0.432;0.952;0.649	D	0.88039	0.2780	10	0.87932	D	0	.	17.5512	0.87876	0.0:0.0:1.0:0.0	.	157;157;134;157;157	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	Y	157;157;134;157	ENSP00000320298:H157Y;ENSP00000320546:H157Y;ENSP00000311857:H157Y	ENSP00000311857:H157Y	H	-	1	0	PTPN2	12815835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.597000	0.61062	2.424000	0.82194	0.558000	0.71614	CAT		0.338	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		10	270	0	0	0	1	0	10	270				
DDX18	8886	broad.mit.edu	37	2	118582670	118582670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118582670C>T	ENST00000263239.2	+	9	1489	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	454	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCGTCTTGGCCATTCATGTA	0.388																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1360-1362)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							147.0	145.0	145.0					2																	118582670		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582670C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1361C>T	2.37:g.118582670C>T	ENSP00000263239:p.Ala454Val						p.A454V	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			9	1489	+			454			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1361C>T	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784446	0.49997	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.74526	-0.85;-0.85	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.046893	0.85682	N	0.000000	T	0.69753	0.3146	N	0.21508	0.67	0.80722	D	1	P	0.38167	0.621	P	0.44897	0.463	T	0.67473	-0.5662	10	0.30078	T	0.28	.	19.0359	0.92978	0.0:1.0:0.0:0.0	.	454	Q9NVP1	DDX18_HUMAN	V	454;193;118	ENSP00000263239:A454V;ENSP00000415604:A118V	ENSP00000263239:A454V	A	+	2	0	DDX18	118299140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	2.583000	0.87209	0.650000	0.86243	GCC		0.388	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		63	534	0	0	0	1	0	63	534				
CGB1	114335	broad.mit.edu	37	19	49539472	49539472	+	Missense_Mutation	SNP	G	G	A	rs202067695		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49539472G>A	ENST00000301407.7	-	2	202	c.98C>T	c.(97-99)aCc>aTc	p.T33I	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.T33I	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	65						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACAGCCAGGGTGGCATTGAT	0.672																																						ENST00000301407.7																			0				liver(1)|lung(1)	2						c.(97-99)aCc>aTc		chorionic gonadotropin, beta polypeptide 1							24.0	26.0	25.0					19																	49539472		1484	2659	4143	SO:0001583	missense	114335					extracellular region	hormone activity	g.chr19:49539472G>A	S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.98C>T	19.37:g.49539472G>A	ENSP00000301407:p.Thr33Ile					CGB1_ENST00000391869.3_Missense_Mutation_p.T33I|CTB-60B18.6_ENST00000591656.1_Intron	p.T33I	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	202	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	65					A4FVC8|A8MUK6	Missense_Mutation	SNP	ENST00000301407.7	37	c.98C>T	CCDS12751.2	.	.	.	.	.	.	.	.	.	.	g	5.170	0.216905	0.09810	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	D;D	0.92099	-2.97;-2.97	1.79	1.79	0.24919	.	0.111798	0.64402	D	0.000014	D	0.87997	0.6319	.	.	.	0.36859	D	0.888294	B	0.27656	0.184	B	0.32149	0.141	D	0.87299	0.2304	9	0.51188	T	0.08	-22.3916	9.6174	0.39701	0.0:0.0:1.0:0.0	.	33	A6NKQ9-2	.	I	33	ENSP00000301407:T33I;ENSP00000375742:T33I	ENSP00000301407:T33I	T	-	2	0	CGB1	54231284	1.000000	0.71417	0.999000	0.59377	0.145000	0.21501	3.163000	0.50763	1.313000	0.45069	0.184000	0.17185	ACC		0.672	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316746.4	NM_033377		87	494	0	0	0	1	0	87	494				
BBS12	166379	broad.mit.edu	37	4	123663084	123663084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123663084C>A	ENST00000314218.3	+	2	230	c.37C>A	c.(37-39)Cac>Aac	p.H13N	BBS12_ENST00000542236.1_Missense_Mutation_p.H13N	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	13					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAAGAAGACACATGGGACT	0.333									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(37-39)Cac>Aac		Bardet-Biedl syndrome 12							85.0	84.0	85.0					4																	123663084		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663084C>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.37C>A	4.37:g.123663084C>A	ENSP00000319062:p.His13Asn					BBS12_ENST00000314218.3_Missense_Mutation_p.H13N	p.H13N	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	418	+			13					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.37C>A	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262943	0.80358	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.69040	-0.37;-0.37;-0.37	4.9	4.9	0.64082	.	0.056728	0.64402	D	0.000002	T	0.80486	0.4632	M	0.66939	2.045	0.48341	D	0.999632	D	0.89917	1.0	D	0.69307	0.963	T	0.82733	-0.0311	10	0.72032	D	0.01	-2.5257	18.47	0.90769	0.0:1.0:0.0:0.0	.	13	Q6ZW61	BBS12_HUMAN	N	13	ENSP00000319062:H13N;ENSP00000438273:H13N;ENSP00000398912:H13N	ENSP00000319062:H13N	H	+	1	0	BBS12	123882534	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.137000	0.64789	2.430000	0.82344	0.585000	0.79938	CAC		0.333	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		57	251	1	0	1.73933e-33	1	2.06204e-33	57	251				
LEMD3	23592	broad.mit.edu	37	12	65632541	65632541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65632541G>A	ENST00000308330.2	+	6	1894	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	623					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTTGGTGTCGTTTTCGACGT	0.353																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1867-1869)cGt>cAt		LEM domain containing 3							202.0	175.0	184.0					12																	65632541		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65632541G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1868G>A	12.37:g.65632541G>A	ENSP00000308369:p.Arg623His						p.R623H	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	6	1894	+			623					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1868G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795785	0.90453	.	.	ENSG00000174106	ENST00000308330	T	0.52983	0.64	4.89	4.89	0.63831	Inner nuclear membrane protein MAN1 (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68758	-0.5324	9	.	.	.	-9.3081	18.9427	0.92610	0.0:0.0:1.0:0.0	.	623	Q9Y2U8	MAN1_HUMAN	H	623	ENSP00000308369:R623H	.	R	+	2	0	LEMD3	63918808	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.295000	0.89937	2.653000	0.90120	0.655000	0.94253	CGT		0.353	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			58	266	0	0	0	1	0	58	266				
TJP2	9414	broad.mit.edu	37	9	71851087	71851087	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71851087C>A	ENST00000377245.4	+	13	2132	c.1924C>A	c.(1924-1926)Ctg>Atg	p.L642M	TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	642	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGACGGCAAGCTGGGCAACTG	0.507																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1924-1926)Ctg>Atg		tight junction protein 2							105.0	96.0	99.0					9																	71851087		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71851087C>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1924C>A	9.37:g.71851087C>A	ENSP00000366453:p.Leu642Met					TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M	p.L642M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			13	2132	+			642			SH3.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1924C>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977115	0.74360	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10763	2.86;2.84;2.86;2.86;2.85;2.89	5.43	4.53	0.55603	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000002	T	0.31482	0.0798	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.982;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.942;0.999;1.0;1.0	T	0.03060	-1.1077	10	0.45353	T	0.12	.	14.3256	0.66518	0.0:0.9285:0.0:0.0715	.	673;646;642;642;642	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	619;642;642;642;646;673	ENSP00000392178:L619M;ENSP00000366453:L642M;ENSP00000345893:L642M;ENSP00000265384:L642M;ENSP00000442090:L646M;ENSP00000438262:L673M	ENSP00000265384:L642M	L	+	1	2	TJP2	71040907	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.856000	0.62932	1.433000	0.47394	0.491000	0.48974	CTG		0.507	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		63	297	1	0	8.77104e-35	1	1.04431e-34	63	297				
PRTG	283659	broad.mit.edu	37	15	55965763	55965763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55965763C>T	ENST00000389286.4	-	10	1705	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAGACAAGCGATACAGCAC	0.512																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1657-1659)cGc>cAc		protogenin							106.0	112.0	110.0					15																	55965763		1914	4113	6027	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55965763C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1658G>A	15.37:g.55965763C>T	ENSP00000373937:p.Arg553His						p.R553H	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	10	1705	-			553			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1658G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872775	0.72180	.	.	ENSG00000166450	ENST00000389286	T	0.58940	0.3	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058015	0.64402	D	0.000001	T	0.57961	0.2089	M	0.67625	2.065	0.80722	D	1	P	0.35328	0.495	B	0.33254	0.16	T	0.64309	-0.6438	10	0.59425	D	0.04	-12.1641	17.4907	0.87702	0.0:1.0:0.0:0.0	.	553	Q2VWP7	PRTG_HUMAN	H	553	ENSP00000373937:R553H	ENSP00000373937:R553H	R	-	2	0	PRTG	53753055	1.000000	0.71417	0.654000	0.29608	0.810000	0.45777	5.601000	0.67606	2.428000	0.82296	0.655000	0.94253	CGC		0.512	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		98	518	0	0	0	1	0	98	518				
AP3D1	8943	broad.mit.edu	37	19	2116654	2116654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2116654G>A	ENST00000345016.5	-	17	2182	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W|AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000355272.6_Missense_Mutation_p.R651W	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	651					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGACGCCGCTGCTCCTCC	0.697																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1951-1953)Cgg>Tgg		adaptor-related protein complex 3, delta 1 subunit							27.0	29.0	28.0					19																	2116654		2111	4230	6341	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2116654G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1951C>T	19.37:g.2116654G>A	ENSP00000344055:p.Arg651Trp					AP3D1_ENST00000345016.5_Missense_Mutation_p.R651W|AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W	p.R651W	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2157	-		Hepatocellular(1079;0.137)	651					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1951C>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319203	0.41096	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.64618	2.13;-0.11;1.49;-0.11	5.16	1.7	0.24286	Armadillo-like helical (1);	0.156867	0.56097	D	0.000035	T	0.71048	0.3294	M	0.65975	2.015	0.24027	N	0.996123	D;B;D	0.76494	0.999;0.173;0.998	P;B;D	0.65987	0.854;0.111;0.94	T	0.61739	-0.7001	10	0.59425	D	0.04	-33.7094	8.0557	0.30604	0.0973:0.0:0.3076:0.595	.	651;651;560	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	W	560;651;651;651;482	ENSP00000349398:R560W;ENSP00000344055:R651W;ENSP00000347416:R651W;ENSP00000342321:R482W	ENSP00000341579:R651W	R	-	1	2	AP3D1	2067654	0.920000	0.31207	0.061000	0.19648	0.152000	0.21847	1.782000	0.38654	0.008000	0.14787	0.561000	0.74099	CGG		0.697	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			19	66	0	0	0	1	0	19	66				
COL1A2	1278	broad.mit.edu	37	7	94038695	94038695	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94038695T>C	ENST00000297268.6	+	17	1325	c.854T>C	c.(853-855)gTg>gCg	p.V285A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	285					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTGGTGAAGTGGGTCTTCCA	0.493										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(853-855)gTg>gCg		collagen, type I, alpha 2	Collagenase(DB00048)						85.0	98.0	93.0					7																	94038695		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038695T>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.854T>C	7.37:g.94038695T>C	ENSP00000297268:p.Val285Ala	HNSCC(75;0.22)					p.V285A	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	1325	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		285					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.854T>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282364	0.40394	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93247	-3.19	5.73	1.87	0.25490	.	0.381500	0.28130	N	0.016489	T	0.79393	0.4438	N	0.03050	-0.425	0.22903	N	0.998586	B	0.02656	0.0	B	0.01281	0.0	T	0.67662	-0.5613	10	0.30854	T	0.27	.	5.0595	0.14550	0.1218:0.2643:0.0:0.6139	.	285	P08123	CO1A2_HUMAN	A	285;286	ENSP00000297268:V285A	ENSP00000297268:V285A	V	+	2	0	COL1A2	93876631	0.818000	0.29161	0.992000	0.48379	0.990000	0.78478	1.716000	0.37981	0.132000	0.18615	0.533000	0.62120	GTG		0.493	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		113	461	0	0	0	1	0	113	461				
HTR6	3362	broad.mit.edu	37	1	19992447	19992447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19992447G>A	ENST00000289753.1	+	1	668	c.201G>A	c.(199-201)tcG>tcA	p.S67S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	67					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TCCTGGTGTCGCTCTTCACGT	0.682																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(199-201)tcG>tcA		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						29.0	30.0	29.0					1																	19992447		2203	4297	6500	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992447G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.201G>A	1.37:g.19992447G>A							p.S67S	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	668	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	67					Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.201G>A	CCDS197.1																																																																																				0.682	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		23	192	0	0	0	1	0	23	192				
HNRNPF	3185	broad.mit.edu	37	10	43882434	43882434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882434G>A	ENST00000544000.1	-	4	1306	c.899C>T	c.(898-900)gCg>gTg	p.A300V	HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000443950.2_Missense_Mutation_p.A300V|HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	300	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTCGGTCGCTTTGTACGG	0.522																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(898-900)gCg>gTg		heterogeneous nuclear ribonucleoprotein F							61.0	51.0	54.0					10																	43882434		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882434G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.899C>T	10.37:g.43882434G>A	ENSP00000438061:p.Ala300Val					HNRNPF_ENST00000544000.1_Missense_Mutation_p.A300V|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V	p.A300V	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1385	-			300			RRM 3.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.899C>T	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016128	0.54468	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	4.38	3.48	0.39840	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00766	-1.1575	10	0.41790	T	0.15	-29.7746	10.982	0.47499	0.0928:0.0:0.9072:0.0	.	300	P52597	HNRPF_HUMAN	V	300;300;300;300;300;223	ENSP00000438061:A300V;ENSP00000400433:A300V;ENSP00000348345:A300V;ENSP00000349573:A300V;ENSP00000338477:A300V	ENSP00000338477:A300V	A	-	2	0	HNRNPF	43202440	1.000000	0.71417	0.837000	0.33122	0.698000	0.40448	8.811000	0.91954	1.446000	0.47643	0.655000	0.94253	GCG		0.522	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			59	260	0	0	0	1	0	59	260				
CST2	1470	broad.mit.edu	37	20	23807128	23807128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807128T>C	ENST00000304725.2	-	1	240	c.170A>G	c.(169-171)aAg>aGg	p.K57R		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	57					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TTCAGTGGCCTTGTTATACTC	0.572																																					Pancreas(193;496 3017 22514 29918)	ENST00000304725.2																			0				breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						c.(169-171)aAg>aGg		cystatin SA							134.0	107.0	116.0					20																	23807128		2203	4300	6503	SO:0001583	missense	1470					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23807128T>C	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.170A>G	20.37:g.23807128T>C	ENSP00000307540:p.Lys57Arg						p.K57R	NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN			1	240	-			57					Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	c.170A>G	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	T	5.075	0.199532	0.09652	.	.	ENSG00000170369	ENST00000304725	T	0.14640	2.49	1.88	1.88	0.25563	Proteinase inhibitor I25, cystatin (2);	0.552916	0.18943	N	0.126892	T	0.14485	0.0350	M	0.62723	1.935	0.09310	N	1	B	0.18863	0.031	B	0.30855	0.121	T	0.19745	-1.0296	10	0.31617	T	0.26	.	5.7205	0.17985	0.0:0.0:0.0:1.0	.	57	P09228	CYTT_HUMAN	R	57	ENSP00000307540:K57R	ENSP00000307540:K57R	K	-	2	0	CST2	23755128	0.097000	0.21791	0.004000	0.12327	0.024000	0.10985	0.474000	0.22148	0.858000	0.35431	0.248000	0.18094	AAG		0.572	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			27	291	0	0	0	1	0	27	291				
ADAMTSL4	54507	broad.mit.edu	37	1	150525719	150525719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525719G>T	ENST00000369038.2	+	3	625	c.424G>T	c.(424-426)Gcg>Tcg	p.A142S	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A142S|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	142					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGATTCGAGCGGCCAGGAG	0.632																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(424-426)Gcg>Tcg		ADAMTS-like 4							19.0	22.0	21.0					1																	150525719		2188	4281	6469	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525719G>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.424G>T	1.37:g.150525719G>T	ENSP00000358034:p.Ala142Ser					RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S	p.A142S	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	660	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		142					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.424G>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057628	0.19907	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.61510	0.2;0.1;0.39;0.1	4.24	3.3	0.37823	.	.	.	.	.	T	0.16685	0.0401	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.19200	0.006;0.013;0.018;0.034	B;B;B;B	0.24394	0.008;0.037;0.01;0.053	T	0.18116	-1.0347	9	0.54805	T	0.06	.	8.3419	0.32249	0.1165:0.0:0.8835:0.0	.	142;142;142;142	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	S	142	ENSP00000358037:A142S;ENSP00000271643:A142S;ENSP00000358035:A142S;ENSP00000358034:A142S	ENSP00000271643:A142S	A	+	1	0	ADAMTSL4	148792343	0.013000	0.17824	0.022000	0.16811	0.095000	0.18619	1.985000	0.40668	1.911000	0.55334	0.561000	0.74099	GCG		0.632	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		15	258	1	0	2.61681e-11	1	2.78987e-11	15	258				
MPP2	4355	broad.mit.edu	37	17	41958122	41958122	+	Missense_Mutation	SNP	G	G	A	rs182947184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41958122G>A	ENST00000461854.1	-	11	1244	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W|MPP2_ENST00000269095.4_Missense_Mutation_p.R363W|MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000518766.1_Missense_Mutation_p.R408W|MPP2_ENST00000377184.3_Missense_Mutation_p.R380W			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	387	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCTGCGCCGTCCCACGCCC	0.607											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1	0.000199681	0.0008	0.0	5008	,	,		20435	0.0		0.0	False		,,,				2504	0.0					ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1087-1089)Cgg>Tgg		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							100.0	91.0	94.0					17																	41958122		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958122G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1159C>T	17.37:g.41958122G>A	ENSP00000428286:p.Arg387Trp		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000518766.1_Missense_Mutation_p.R408W|MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W|MPP2_ENST00000461854.1_Missense_Mutation_p.R387W|MPP2_ENST00000377184.3_Missense_Mutation_p.R380W	p.R363W	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	10	1391	-		Breast(137;0.00314)	387					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1087C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.8	4.566265	0.86439	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.02	5.02	0.67125	.	.	.	.	.	T	0.55768	0.1941	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66484	-0.5912	9	0.87932	D	0	.	11.3615	0.49646	0.0:0.0:0.8187:0.1813	.	408;380	E7EV80;Q14168-3	.;.	W	380;363;387;224;352;352;408	ENSP00000366389:R380W;ENSP00000269095:R363W;ENSP00000428286:R387W;ENSP00000428136:R224W;ENSP00000430540:R352W;ENSP00000438012:R352W;ENSP00000428182:R408W	ENSP00000269095:R363W	R	-	1	2	MPP2	39313648	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.519000	0.73768	2.511000	0.84671	0.485000	0.47835	CGG		0.607	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		92	388	0	0	0	1	0	92	388				
NR2F2	7026	broad.mit.edu	37	15	96875553	96875553	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:96875553G>T	ENST00000394166.3	+	1	1608	c.219G>T	c.(217-219)caG>caT	p.Q73H	NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000453270.2_5'Flank|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	73	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGCAGCAGCAGCAGCAACACA	0.697																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(217-219)caG>caT		nuclear receptor subfamily 2, group F, member 2							24.0	19.0	21.0					15																	96875553		2192	4295	6487	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875553G>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.219G>T	15.37:g.96875553G>T	ENSP00000377721:p.Gln73His					NR2F2_ENST00000421109.2_Intron	p.Q73H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1608	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		73			Poly-Gln.		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.219G>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054866	0.19907	.	.	ENSG00000185551	ENST00000394166	D	0.93604	-3.25	4.53	-0.248	0.13015	Zinc finger, NHR/GATA-type (1);	0.234402	0.30277	N	0.009992	D	0.83954	0.5366	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.35550	0.205	T	0.78262	-0.2272	10	0.44086	T	0.13	.	10.2126	0.43150	0.3553:0.0:0.6447:0.0	.	73	P24468	COT2_HUMAN	H	73	ENSP00000377721:Q73H	ENSP00000377721:Q73H	Q	+	3	2	NR2F2	94676557	.	.	0.995000	0.50966	0.297000	0.27493	.	.	0.041000	0.15688	-0.379000	0.06801	CAG		0.697	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			9	50	1	0	0.000274275	1	0.000278163	9	50				
MYO15A	51168	broad.mit.edu	37	17	18062626	18062626	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18062626G>T	ENST00000205890.5	+	54	9532	c.9194G>T	c.(9193-9195)aGc>aTc	p.S3065I	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.S329I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3065	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCAGCGACAGCAGCCTCAGC	0.587																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9193-9195)aGc>aTc		myosin XVA							87.0	94.0	92.0					17																	18062626		2119	4225	6344	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18062626G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9194G>T	17.37:g.18062626G>T	ENSP00000205890:p.Ser3065Ile					MYO15A_ENST00000418233.3_Missense_Mutation_p.S329I	p.S3065I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			54	9532	+	all_neural(463;0.228)		3065			MyTH4 2.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9194G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068420	0.20067	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535	D;D	0.94966	-2.38;-3.57	4.94	1.56	0.23342	MyTH4 domain (2);	.	.	.	.	D	0.90229	0.6945	L	0.48642	1.525	0.80722	D	1	P;B;B	0.40000	0.698;0.429;0.437	B;B;B	0.37047	0.205;0.24;0.091	D	0.84921	0.0854	9	0.42905	T	0.14	.	9.9795	0.41804	0.1341:0.2133:0.6525:0.0	.	54;329;3065	B4DLV9;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	I	3065;54;19	ENSP00000205890:S3065I;ENSP00000451782:S19I	ENSP00000205890:S3065I	S	+	2	0	MYO15A	18003351	0.996000	0.38824	0.999000	0.59377	0.763000	0.43281	1.147000	0.31602	0.132000	0.18615	-1.598000	0.00824	AGC		0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		40	206	1	0	6.5261e-18	1	7.22248e-18	40	206				
OR5M3	219482	broad.mit.edu	37	11	56237597	56237597	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237597T>G	ENST00000312240.2	-	1	417	c.377A>C	c.(376-378)aAt>aCt	p.N126T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAGCAGAGGATTCCCAATTGC	0.398																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(376-378)aAt>aCt		olfactory receptor, family 5, subfamily M, member 3							95.0	89.0	91.0					11																	56237597		2201	4269	6470	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237597T>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.377A>C	11.37:g.56237597T>G	ENSP00000312208:p.Asn126Thr						p.N126T	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	417	-	Esophageal squamous(21;0.00448)		126					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.377A>C	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	5.237	0.229209	0.09916	.	.	ENSG00000174937	ENST00000312240	T	0.00382	7.61	5.13	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.697951	0.12939	N	0.426758	T	0.00524	0.0017	M	0.87328	2.875	0.09310	N	1	B	0.30281	0.275	B	0.33121	0.158	T	0.30736	-0.9968	10	0.66056	D	0.02	-0.3966	9.4625	0.38794	0.0:0.0846:0.0:0.9154	.	126	Q8NGP4	OR5M3_HUMAN	T	126	ENSP00000312208:N126T	ENSP00000312208:N126T	N	-	2	0	OR5M3	55994173	0.000000	0.05858	0.032000	0.17829	0.003000	0.03518	0.620000	0.24403	0.809000	0.34255	0.391000	0.25812	AAT		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		101	523	0	0	0	1	0	101	523				
GPRC5C	55890	broad.mit.edu	37	17	72435964	72435964	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72435964C>A	ENST00000481232.1	+	2	695	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	GPRC5C_ENST00000392627.1_Missense_Mutation_p.L62M|GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M|GPRC5C_ENST00000342648.5_Intron			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	17					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCTCTCTTCCTGTTCCCAGG	0.642																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(184-186)Ctg>Atg		G protein-coupled receptor, family C, group 5, member C							58.0	53.0	55.0					17																	72435964		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72435964C>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.184C>A	17.37:g.72435964C>A	ENSP00000462147:p.Leu62Met					GPRC5C_ENST00000481232.1_Missense_Mutation_p.L62M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M	p.L62M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	1310	+			17					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000481232.1	37	c.184C>A		.	.	.	.	.	.	.	.	.	.	C	7.074	0.568859	0.13560	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T;T	0.20200	2.09;2.12	5.49	3.36	0.38483	.	0.416385	0.21947	N	0.066782	T	0.33673	0.0871	L	0.59436	1.845	0.09310	N	1	P;P;P;D	0.60160	0.826;0.651;0.763;0.987	B;B;B;P	0.58391	0.259;0.259;0.444;0.838	T	0.06607	-1.0817	10	0.87932	D	0	-2.0659	8.7494	0.34607	0.0:0.7846:0.0:0.2154	.	17;17;29;17	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	M	17;62;17;29;17	ENSP00000376405:L29M;ENSP00000376404:L17M	ENSP00000262616:L17M	L	+	1	2	GPRC5C	69947559	0.093000	0.21703	0.426000	0.26672	0.968000	0.65278	1.296000	0.33389	1.143000	0.42306	0.561000	0.74099	CTG		0.642	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2			66	285	1	0	3.57465e-26	1	4.11543e-26	66	285				
MERTK	10461	broad.mit.edu	37	2	112779036	112779036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112779036G>A	ENST00000295408.4	+	17	2484	c.2227G>A	c.(2227-2229)Ggc>Agc	p.G743S	MERTK_ENST00000421804.2_Missense_Mutation_p.G743S|MERTK_ENST00000409780.1_Missense_Mutation_p.G567S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	743	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGCGGACTTCGGCCTCTCTAA	0.483																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2227-2229)Ggc>Agc		c-mer proto-oncogene tyrosine kinase							158.0	151.0	153.0					2																	112779036		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779036G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2227G>A	2.37:g.112779036G>A	ENSP00000295408:p.Gly743Ser					MERTK_ENST00000409780.1_Missense_Mutation_p.G567S|MERTK_ENST00000421804.2_Missense_Mutation_p.G743S	p.G743S			Q12866	MERTK_HUMAN			17	2484	+			743			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2227G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794592	0.96952	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34156	U	0.004202	D	0.97356	0.9135	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98130	1.0430	10	0.87932	D	0	-27.087	19.012	0.92877	0.0:0.0:1.0:0.0	.	743	Q12866	MERTK_HUMAN	S	743;743;379;567;67	ENSP00000295408:G743S;ENSP00000389152:G743S;ENSP00000387277:G567S;ENSP00000412660:G67S	ENSP00000295408:G743S	G	+	1	0	MERTK	112495507	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.657000	0.98554	2.724000	0.93272	0.563000	0.77884	GGC		0.483	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			84	415	0	0	0	1	0	84	415				
TENM3	55714	broad.mit.edu	37	4	183659682	183659682	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183659682C>T	ENST00000511685.1	+	18	3487	c.3364C>T	c.(3364-3366)Ctg>Ttg	p.L1122L	TENM3_ENST00000406950.2_Silent_p.L1122L|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1122					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACATCACGTGCTGGATGTACA	0.438																																						ENST00000511685.1																			0											c.(3364-3366)Ctg>Ttg		teneurin transmembrane protein 3							181.0	175.0	177.0					4																	183659682		1984	4160	6144	SO:0001819	synonymous_variant	55714							g.chr4:183659682C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3364C>T	4.37:g.183659682C>T						TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.L1122L	p.L1122L							18	3487	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.3364C>T	CCDS47165.1																																																																																				0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			31	312	0	0	0	1	0	31	312				
ACACA	31	broad.mit.edu	37	17	35446008	35446008	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35446008G>T	ENST00000394406.2	-	55	6972	c.6782C>A	c.(6781-6783)gCt>gAt	p.A2261D	ACACA_ENST00000353139.5_Splice_Site_p.A2298D|ACACA_ENST00000335166.5_Splice_Site_p.A2183D|ACACA_ENST00000361253.5_Splice_Site_p.A387D|ACACA_ENST00000360679.3_Splice_Site_p.A2203D	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2261					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAAACATAAGCCTGCAAACA	0.493																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.e55-1		acetyl-CoA carboxylase alpha	Biotin(DB00121)						138.0	131.0	133.0					17																	35446008		2203	4300	6503	SO:0001630	splice_region_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35446008G>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6781-1C>A	17.37:g.35446008G>T						ACACA_ENST00000361253.5_Splice_Site_p.A387_splice|ACACA_ENST00000394406.2_Splice_Site_p.A2261_splice|ACACA_ENST00000360679.3_Splice_Site_p.A2203_splice|ACACA_ENST00000335166.5_Splice_Site_p.A2183_splice	p.A2298_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			55	7374	-		Breast(25;0.00157)|Ovarian(249;0.15)	2261					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37	c.6891_splice	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771870	0.69992	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	L	0.46157	1.445	0.80722	D	1	P;P;D;P;B	0.53312	0.948;0.9;0.959;0.738;0.164	P;P;P;B;B	0.54706	0.593;0.743;0.759;0.252;0.115	T	0.43163	-0.9408	10	0.23891	T	0.37	-12.9246	20.2033	0.98269	0.0:0.0:1.0:0.0	.	299;960;2298;2261;2203	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	D	2298;2203;2261;2285;2183;960;387	ENSP00000344789:A2298D;ENSP00000353898:A2203D;ENSP00000377928:A2261D;ENSP00000335323:A2183D;ENSP00000354565:A387D	ENSP00000335323:A2183D	A	-	2	0	ACACA	32520121	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.724000	0.74747	2.779000	0.95612	0.655000	0.94253	GCT		0.493	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Missense_Mutation	136	582	1	0	1.02165e-56	1	1.27875e-56	136	582				
CTR9	9646	broad.mit.edu	37	11	10789414	10789414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10789414C>A	ENST00000361367.2	+	14	2174	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	583					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAATGGGGTCCTGGGCAGAAG	0.418																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1747-1749)cCt>cAt		CTR9, Paf1/RNA polymerase II complex component							246.0	249.0	248.0					11																	10789414		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10789414C>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1748C>A	11.37:g.10789414C>A	ENSP00000355013:p.Pro583His						p.P583H	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	14	2174	+			583					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1748C>A	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807769	0.70797	.	.	ENSG00000198730	ENST00000361367	T	0.17528	2.27	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.55481	1.735	0.80722	D	1	P	0.45569	0.861	B	0.38500	0.275	T	0.01416	-1.1360	10	0.41790	T	0.15	-11.4677	19.5083	0.95130	0.0:1.0:0.0:0.0	.	583	Q6PD62	CTR9_HUMAN	H	583	ENSP00000355013:P583H	ENSP00000355013:P583H	P	+	2	0	CTR9	10745990	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.735000	0.84939	2.620000	0.88729	0.467000	0.42956	CCT		0.418	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		253	1024	1	0	5.85207e-95	1	7.51948e-95	253	1024				
PPARGC1B	133522	broad.mit.edu	37	5	149216334	149216334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216334G>A	ENST00000309241.5	+	8	2348	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000403750.1_Silent_p.E708E|PPARGC1B_ENST00000394320.3_Silent_p.E772E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	772	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCTGCTGGAGACCGCCCTGG	0.602																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2314-2316)gaG>gaA		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							106.0	111.0	109.0					5																	149216334		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216334G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2316G>A	5.37:g.149216334G>A						PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000403750.1_Silent_p.E708E|PPARGC1B_ENST00000394320.3_Silent_p.E772E	p.E772E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2348	+			772			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.2316G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216807	0.09810	.	.	ENSG00000155846	ENST00000434684	.	.	.	4.93	-1.35	0.09114	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.29451	N	0.858469	.	.	.	.	.	.	T	0.29027	-1.0025	4	.	.	.	-10.0845	0.4038	0.00430	0.251:0.2731:0.2459:0.23	.	.	.	.	N	459	.	.	D	+	1	0	PPARGC1B	149196527	0.894000	0.30519	0.255000	0.24374	0.993000	0.82548	0.833000	0.27504	-0.040000	0.13580	0.462000	0.41574	GAC		0.602	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		163	804	0	0	0	1	0	163	804				
CNGA2	1260	broad.mit.edu	37	X	150911635	150911635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150911635G>A	ENST00000329903.4	+	6	693	c.660G>A	c.(658-660)caG>caA	p.Q220Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	220					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTGCAGTTCAAGCTGG	0.522																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(658-660)caG>caA		cyclic nucleotide gated channel alpha 2							138.0	100.0	113.0					X																	150911635		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911635G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.660G>A	X.37:g.150911635G>A							p.Q220Q	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	693	+	Acute lymphoblastic leukemia(192;6.56e-05)		220					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.660G>A	CCDS14701.1																																																																																				0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		96	258	0	0	0	1	0	96	258				
EPC1	80314	broad.mit.edu	37	10	32560597	32560597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560597G>A	ENST00000263062.8	-	14	2592	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*|EPC1_ENST00000319778.6_Nonsense_Mutation_p.R752*|RP11-166N17.1_ENST00000415731.2_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	775					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTATATGTCGTGCATTTATT	0.443																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(2254-2256)Cga>Tga		enhancer of polycomb homolog 1 (Drosophila)							216.0	197.0	204.0					10																	32560597		2203	4300	6503	SO:0001587	stop_gained	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32560597G>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2323C>T	10.37:g.32560597G>A	ENSP00000263062:p.Arg775*					EPC1_ENST00000263062.8_Nonsense_Mutation_p.R775*|EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*	p.R752*	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			13	2556	-		Prostate(175;0.0199)	775					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Nonsense_Mutation	SNP	ENST00000263062.8	37	c.2254C>T	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	42	9.302857	0.99130	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.24	5.24	0.73138	.	0.247523	0.41001	D	0.000976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.3252	18.8808	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	702;752;775	.	ENSP00000263062:R775X	R	-	1	2	EPC1	32600603	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.245000	0.72398	2.442000	0.82660	0.306000	0.20318	CGA		0.443	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			172	818	0	0	0	1	0	172	818				
ABCC2	1244	broad.mit.edu	37	10	101604222	101604222	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101604222G>T	ENST00000370449.4	+	28	4100	c.3987G>T	c.(3985-3987)aaG>aaT	p.K1329N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCATGGAGAAGGTAGGTGGAG	0.517																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.e28+1		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						128.0	114.0	119.0					10																	101604222		2203	4300	6503	SO:0001630	splice_region_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101604222G>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3987+1G>T	10.37:g.101604222G>T							p.K1329_splice	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	28	4100	+		Colorectal(252;0.234)	1329			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Splice_Site	SNP	ENST00000370449.4	37	c.3987_splice	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714854	0.89112	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.64	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96924	0.9676	10	0.87932	D	0	-0.1001	14.5275	0.67900	0.0701:0.0:0.9299:0.0	.	1329	Q92887	MRP2_HUMAN	N	1329	ENSP00000359478:K1329N	ENSP00000359478:K1329N	K	+	3	2	ABCC2	101594212	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.543000	0.73874	1.398000	0.46701	0.655000	0.94253	AAG		0.517	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	Missense_Mutation	88	386	1	0	1.0532e-45	1	1.29204e-45	88	386				
TECPR2	9895	broad.mit.edu	37	14	102900983	102900983	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102900983G>T	ENST00000359520.7	+	9	2055	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I	TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	610					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGACCAAATAGCACACAGTTA	0.567																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(1828-1830)aGc>aTc		tectonin beta-propeller repeat containing 2							90.0	60.0	70.0					14																	102900983		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102900983G>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1829G>T	14.37:g.102900983G>T	ENSP00000352510:p.Ser610Ile					TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	p.S610I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			9	2055	+			610					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.1829G>T	CCDS32162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.59|11.59	1.684223|1.684223	0.29872|0.29872	.|.	.|.	ENSG00000196663|ENSG00000196663	ENST00000380088|ENST00000359520	.|T	.|0.15603	.|2.41	4.59|4.59	1.58|1.58	0.23477|0.23477	.|.	.|1.679610	.|0.02402	.|N	.|0.080727	.|T	.|0.11324	.|0.0276	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.0;0.002	.|T	.|0.23726	.|-1.0180	.|9	.|.	.|.	.|.	.|.	3.6399|3.6399	0.08163|0.08163	0.0829:0.1333:0.3749:0.4089|0.0829:0.1333:0.3749:0.4089	.|.	.|610;610	.|A5PKY3;O15040	.|.;TCPR2_HUMAN	.|I	-1|610	.|ENSP00000352510:S610I	.|.	.|S	+|+	.|2	.|0	TECPR2|TECPR2	101970736|101970736	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.341000|0.341000	0.28922|0.28922	-0.853000|-0.853000	0.04303|0.04303	0.140000|0.140000	0.18849|0.18849	0.555000|0.555000	0.69702|0.69702	.|AGC		0.567	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		9	171	1	0	1.76689e-08	1	1.84553e-08	9	171				
PMS2	5395	broad.mit.edu	37	7	6017283	6017283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017283G>A	ENST00000265849.7	-	14	2486	c.2381C>T	c.(2380-2382)cCt>cTt	p.P794L	PMS2_ENST00000382321.4_Missense_Mutation_p.P393L|PMS2_ENST00000441476.2_Missense_Mutation_p.P688L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	794					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CATGACCCCAGGGCTGTCGCT	0.542			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2380-2382)cCt>cTt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							23.0	21.0	22.0					7																	6017283		2142	4137	6279	SO:0001583	missense	5395	Turcot 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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6017283G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2381C>T	7.37:g.6017283G>A	ENSP00000265849:p.Pro794Leu					PMS2_ENST00000382321.4_Missense_Mutation_p.P393L|PMS2_ENST00000441476.2_Missense_Mutation_p.P688L	p.P794L	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	14	2486	-		Ovarian(82;0.0694)	794					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.2381C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302696	0.95601	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	T;T;T	0.73681	-0.77;-0.77;-0.77	5.75	5.75	0.90469	MutL, C-terminal, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.87827	2.91	0.80722	D	1	D;P;D	0.89917	1.0;0.939;1.0	D;P;D	0.97110	0.999;0.823;1.0	D	0.86008	0.1499	10	0.29301	T	0.29	-13.193	18.9294	0.92558	0.0:0.0:1.0:0.0	.	393;794;688	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	L	794;747;393;688	ENSP00000265849:P794L;ENSP00000371758:P393L;ENSP00000392843:P688L	ENSP00000265849:P794L	P	-	2	0	PMS2	5983809	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	9.859000	0.99545	2.728000	0.93425	0.549000	0.68633	CCT		0.542	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		45	288	0	0	0	1	0	45	288				
AURKC	6795	broad.mit.edu	37	19	57746274	57746274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57746274C>T	ENST00000302804.7	+	6	793	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000598785.1_Silent_p.L169L|AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000448930.1_Silent_p.L169L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GTGTGGGACACTGGACTACTT	0.483																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(607-609)Ctg>Ttg		aurora kinase C							123.0	103.0	110.0					19																	57746274		2203	4300	6503	SO:0001819	synonymous_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746274C>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.607C>T	19.37:g.57746274C>T						AURKC_ENST00000598785.1_Silent_p.L169L|AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000448930.1_Silent_p.L169L	p.L203L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	6	793	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	203			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	c.607C>T	CCDS33128.1																																																																																				0.483	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		41	187	0	0	0	1	0	41	187				
CBFA2T2	9139	broad.mit.edu	37	20	32199034	32199034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32199034C>T	ENST00000346541.3	+	4	877	c.340C>T	c.(340-342)Cga>Tga	p.R114*	CBFA2T2_ENST00000492345.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TTGTGGTGCTCGACAACTCAG	0.517																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(340-342)Cga>Tga		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							183.0	156.0	165.0					20																	32199034		2203	4300	6503	SO:0001587	stop_gained	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32199034C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.340C>T	20.37:g.32199034C>T	ENSP00000262653:p.Arg114*					CBFA2T2_ENST00000342704.5_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*	p.R114*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			4	877	+			114			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Nonsense_Mutation	SNP	ENST00000346541.3	37	c.340C>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	40	8.059881	0.98632	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	.	.	.	5.54	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3704	13.1758	0.59626	0.42:0.58:0.0:0.0	.	.	.	.	X	114;105;105;85;114;85;85;124	.	ENSP00000345810:R105X	R	+	1	2	CBFA2T2	31662695	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	0.614000	0.30107	0.655000	0.94253	CGA		0.517	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		126	536	0	0	0	1	0	126	536				
PLB1	151056	broad.mit.edu	37	2	28748771	28748771	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28748771G>A	ENST00000327757.5	+	6	328		c.e6-1		PLB1_ENST00000422425.2_Splice_Site	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTACCTGCAGGACTGAAAGG	0.532																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.e6-1		phospholipase B1							121.0	101.0	108.0					2																	28748771		2203	4300	6503	SO:0001630	splice_region_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28748771G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.285-1G>A	2.37:g.28748771G>A						PLB1_ENST00000327757.5_Splice_Site		NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			6	328	+	Acute lymphoblastic leukemia(172;0.155)							A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	ENST00000327757.5	37		CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812568	0.50527	.	.	ENSG00000163803	ENST00000416713;ENST00000327757;ENST00000422425;ENST00000404858	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3317	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLB1	28602275	1.000000	0.71417	0.907000	0.35723	0.068000	0.16541	4.141000	0.58038	2.779000	0.95612	0.655000	0.94253	.		0.532	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		Intron	7	227	0	0	0	1	0	7	227				
KLHDC8A	55220	broad.mit.edu	37	1	205312649	205312649	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205312649C>T	ENST00000367156.3	-	5	900	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.E28E|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	28										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCCCCCGGTCTCCAGCAGGG	0.672																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(82-84)gaG>gaA		kelch domain containing 8A							21.0	24.0	23.0					1																	205312649		2202	4299	6501	SO:0001819	synonymous_variant	55220							g.chr1:205312649C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.84G>A	1.37:g.205312649C>T						KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.E28E	p.E28E	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	900	-	Breast(84;0.23)		28					B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	c.84G>A	CCDS30985.1																																																																																				0.672	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		58	156	0	0	0	1	0	58	156				
IMPG1	3617	broad.mit.edu	37	6	76660589	76660589	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660589T>C	ENST00000369950.3	-	13	1703	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G	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)				TGATCGGCTGTCATCTGAAGA	0.512																																					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.(1513-1515)gAc>gGc		interphotoreceptor matrix proteoglycan 1							93.0	87.0	89.0					6																	76660589		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660589T>C	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.1514A>G	6.37:g.76660589T>C	ENSP00000358966:p.Asp505Gly					IMPG1_ENST00000369963.3_3'UTR	p.D505G	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1703	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	505						Missense_Mutation	SNP	ENST00000369950.3	37	c.1514A>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233902	0.22626	.	.	ENSG00000112706	ENST00000369950	T	0.20463	2.07	5.03	2.57	0.30868	.	0.426346	0.21631	N	0.071490	T	0.05318	0.0141	L	0.38175	1.15	0.18873	N	0.999987	B	0.12630	0.006	B	0.08055	0.003	T	0.30679	-0.9970	10	0.41790	T	0.15	.	6.2104	0.20626	0.0:0.1538:0.1359:0.7103	.	505	Q17R60	IMPG1_HUMAN	G	505	ENSP00000358966:D505G	ENSP00000358966:D505G	D	-	2	0	IMPG1	76717309	0.000000	0.05858	0.062000	0.19696	0.190000	0.23558	-0.053000	0.11846	0.852000	0.35287	0.528000	0.53228	GAC		0.512	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		49	209	0	0	0	1	0	49	209				
IKZF4	64375	broad.mit.edu	37	12	56428846	56428846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56428846G>T	ENST00000262032.5	+	12	1856	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*|IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	497					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTACGCCAAAGAGGACCCCAA	0.662																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1489-1491)Gag>Tag		IKAROS family zinc finger 4 (Eos)							42.0	45.0	44.0					12																	56428846		1891	4109	6000	SO:0001587	stop_gained	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56428846G>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1489G>T	12.37:g.56428846G>T	ENSP00000262032:p.Glu497*					RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*|IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*	p.E497*			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	1856	+			497					Q96JP3	Nonsense_Mutation	SNP	ENST00000262032.5	37	c.1489G>T	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349796	0.82132	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	.	.	.	4.08	4.08	0.47627	.	0.000000	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.8609	15.5539	0.76177	0.0:0.0:1.0:0.0	.	.	.	.	X	497;395;497;452	.	ENSP00000262032:E497X	E	+	1	0	IKZF4	54715113	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.374000	0.79633	2.268000	0.75426	0.313000	0.20887	GAG		0.662	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		74	284	1	0	1.26778e-28	1	1.47706e-28	74	284				
ZNF831	128611	broad.mit.edu	37	20	57766678	57766678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766678C>A	ENST00000371030.2	+	1	604	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	202							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAACTCCCGGCTGTCCTCAGA	0.672																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(604-606)Ctg>Atg		zinc finger protein 831							37.0	45.0	42.0					20																	57766678		2012	4169	6181	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766678C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.604C>A	20.37:g.57766678C>A	ENSP00000360069:p.Leu202Met						p.L202M	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	604	+	all_lung(29;0.0085)		202					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.604C>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389185	0.42410	.	.	ENSG00000124203	ENST00000371030	T	0.06687	3.27	5.41	4.46	0.54185	.	.	.	.	.	T	0.11537	0.0281	N	0.24115	0.695	0.25713	N	0.985465	D	0.62365	0.991	P	0.55923	0.787	T	0.13737	-1.0498	9	0.87932	D	0	-1.5935	7.5748	0.27928	0.1637:0.7519:0.0:0.0844	.	202	Q5JPB2	ZN831_HUMAN	M	202	ENSP00000360069:L202M	ENSP00000360069:L202M	L	+	1	2	ZNF831	57200073	0.014000	0.17966	0.631000	0.29282	0.837000	0.47467	0.966000	0.29331	1.255000	0.44051	0.561000	0.74099	CTG		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		101	466	1	0	7.4264e-54	1	9.26213e-54	101	466				
PI4KA	5297	broad.mit.edu	37	22	21105625	21105625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21105625C>T	ENST00000572273.1	-	27	3165	c.2935G>A	c.(2935-2937)Gcc>Acc	p.A979T	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.A1037T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	979					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGGTAGGGGGCGTCGGGGATG	0.552																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(3109-3111)Gcc>Acc		phosphatidylinositol 4-kinase, catalytic, alpha							131.0	97.0	108.0					22																	21105625		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21105625C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2935G>A	22.37:g.21105625C>T	ENSP00000458238:p.Ala979Thr					PI4KA_ENST00000572273.1_Missense_Mutation_p.A979T	p.A1037T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		27	3195	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	979					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3109G>A		.	.	.	.	.	.	.	.	.	.	C	9.450	1.090231	0.20390	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.43	4.36	0.52297	.	0.213702	0.49916	D	0.000136	T	0.11196	0.0273	N	0.00088	-2.19	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45687	-0.9244	9	0.02654	T	1	-15.003	14.7651	0.69632	0.0:0.9208:0.0:0.0792	.	979	P42356	PI4KA_HUMAN	T	979	.	ENSP00000255882:A979T	A	-	1	0	PI4KA	19435625	0.998000	0.40836	0.644000	0.29465	0.917000	0.54804	3.456000	0.53000	2.825000	0.97269	0.655000	0.94253	GCC		0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		33	194	0	0	0	1	0	33	194				
ANKS1B	56899	broad.mit.edu	37	12	99837462	99837462	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99837462T>C	ENST00000547776.2	-	11	1563	c.1564A>G	c.(1564-1566)Att>Gtt	p.I522V	ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V|ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	522						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGGGTCGAATGACTTTTACA	0.423																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1564-1566)Att>Gtt		ankyrin repeat and sterile alpha motif domain containing 1B							153.0	148.0	150.0					12																	99837462		1887	4109	5996	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99837462T>C	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1564A>G	12.37:g.99837462T>C	ENSP00000449629:p.Ile522Val					ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V	p.I522V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	11	1563	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	522					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1564A>G	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430242	0.62844	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61627	0.87;0.09;0.87;0.72	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56968	0.978;0.948;0.803	D;D;P	0.70227	0.968;0.949;0.847	T	0.65372	-0.6184	9	.	.	.	-11.2955	15.1596	0.72771	0.0:0.0:0.0:1.0	.	488;102;522	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	V	522;102;522;101;488	ENSP00000449629:I522V;ENSP00000448512:I102V;ENSP00000331381:I522V;ENSP00000449894:I488V	.	I	-	1	0	ANKS1B	98361593	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.759000	0.74934	2.317000	0.78254	0.460000	0.39030	ATT		0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		38	239	0	0	0	1	0	38	239				
NFASC	23114	broad.mit.edu	37	1	204938111	204938111	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204938111G>A	ENST00000401399.1	+	9	1202		c.e9+1		NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGTAAAGGGTACGTTGTGT	0.522																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.e10+1		neurofascin							63.0	67.0	66.0					1																	204938111		2203	4300	6503	SO:0001630	splice_region_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204938111G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1003+1G>A	1.37:g.204938111G>A						NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000339876.6_Splice_Site				O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		10	1331	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)							B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	37		CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945740	0.92593	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000367173	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203204734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.722000	0.98770	2.741000	0.93983	0.650000	0.86243	.		0.522	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	Intron	10	145	0	0	0	1	0	10	145				
KIAA1755	85449	broad.mit.edu	37	20	36870077	36870077	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36870077G>T	ENST00000279024.4	-	3	727	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	152										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACTGTTGATGGCCTCCAGCC	0.512																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(454-456)gcC>gcA		KIAA1755							106.0	107.0	107.0					20																	36870077		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36870077G>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.456C>A	20.37:g.36870077G>T							p.A152A	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	727	-		Myeloproliferative disorder(115;0.00874)	152					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.456C>A	CCDS33467.1																																																																																				0.512	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		15	514	1	0	2.23348e-06	1	2.30073e-06	15	514				
RBMS3	27303	broad.mit.edu	37	3	29781263	29781263	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:29781263T>G	ENST00000383767.2	+	5	788	c.452T>G	c.(451-453)aTg>aGg	p.M151R	RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R|RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000434693.2_Missense_Mutation_p.M150R			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	151	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCATTTCTATGGATGAGCAG	0.408																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(448-450)aTg>aGg		RNA binding motif, single stranded interacting protein 3							174.0	167.0	169.0					3																	29781263		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29781263T>G	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.452T>G	3.37:g.29781263T>G	ENSP00000373277:p.Met151Arg					RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000383767.2_Missense_Mutation_p.M151R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R	p.M150R	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			5	1149	+		Ovarian(412;0.0956)	151			RRM 2.		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.449T>G	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578634	0.86645	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.88979	2.995	0.80722	D	1	D;P;D;D	0.59767	0.982;0.906;0.982;0.986	D;P;D;D	0.70935	0.927;0.888;0.927;0.971	T	0.57069	-0.7874	9	.	.	.	.	15.6346	0.76941	0.0:0.0:0.0:1.0	.	151;151;150;151	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	R	150;151;151;151;151;150;151;151	ENSP00000395592:M150R;ENSP00000379828:M151R;ENSP00000373277:M151R;ENSP00000391934:M151R;ENSP00000273139:M151R;ENSP00000373276:M150R;ENSP00000397926:M151R;ENSP00000400519:M151R	.	M	+	2	0	RBMS3	29756267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.029000	0.88807	2.093000	0.63338	0.460000	0.39030	ATG		0.408	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		173	607	0	0	0	1	0	173	607				
ANAPC5	51433	broad.mit.edu	37	12	121783678	121783678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121783678C>A	ENST00000261819.3	-	4	675	c.554G>T	c.(553-555)aGa>aTa	p.R185I	ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	185					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCATTTTTCTTTCACCCTC	0.383																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(553-555)aGa>aTa		anaphase promoting complex subunit 5							309.0	294.0	299.0					12																	121783678		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121783678C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.554G>T	12.37:g.121783678C>A	ENSP00000261819:p.Arg185Ile					ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I	p.R185I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			4	675	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		185					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.554G>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652843	0.29336	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.42	4.52	0.55395	.	0.300312	0.41605	D	0.000858	T	0.13030	0.0316	N	0.14661	0.345	0.47737	D	0.999503	B;B	0.14805	0.002;0.011	B;B	0.15052	0.008;0.012	T	0.07520	-1.0768	10	0.18276	T	0.48	.	14.5878	0.68339	0.0:0.9286:0.0:0.0714	.	86;185	E9PFB2;Q9UJX4	.;APC5_HUMAN	I	86;185;185;86;64;86	ENSP00000415061:R86I;ENSP00000439875:R185I;ENSP00000261819:R185I;ENSP00000343787:R86I;ENSP00000445310:R64I;ENSP00000440800:R86I	ENSP00000261819:R185I	R	-	2	0	ANAPC5	120268061	0.984000	0.35163	0.799000	0.32177	0.990000	0.78478	3.369000	0.52365	1.251000	0.43983	0.655000	0.94253	AGA		0.383	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			193	894	1	0	7.44903e-92	1	9.56706e-92	193	894				
TENM1	10178	broad.mit.edu	37	X	123526164	123526164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123526164T>C	ENST00000371130.3	-	27	5468	c.5405A>G	c.(5404-5406)gAt>gGt	p.D1802G	TENM1_ENST00000422452.2_Missense_Mutation_p.D1809G|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1802					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGTTATATGATCAAAATCTAT	0.423																																						ENST00000422452.2																			0											c.(5425-5427)gAt>gGt		teneurin transmembrane protein 1							129.0	121.0	124.0					X																	123526164		2203	4299	6502	SO:0001583	missense	10178							g.chrX:123526164T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5405A>G	X.37:g.123526164T>C	ENSP00000360171:p.Asp1802Gly					TENM1_ENST00000371130.3_Missense_Mutation_p.D1802G|STAG2_ENST00000469481.1_Intron	p.D1809G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					28	5489	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5426A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033170	0.75504	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90788	-2.73;-2.69	5.54	5.54	0.83059	.	0.099413	0.64402	D	0.000001	D	0.91540	0.7328	M	0.79123	2.44	0.58432	D	0.999998	P;P;D	0.54964	0.953;0.953;0.969	B;B;P	0.45343	0.265;0.294;0.477	D	0.92533	0.6035	10	0.87932	D	0	.	14.7475	0.69499	0.0:0.0:0.0:1.0	.	1808;1809;1802	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	1802;1809	ENSP00000360171:D1802G;ENSP00000403954:D1809G	ENSP00000360171:D1802G	D	-	2	0	ODZ1	123353845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.258000	0.72487	1.863000	0.54032	0.486000	0.48141	GAT		0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		123	376	0	0	0	1	0	123	376				
LIG4	3981	broad.mit.edu	37	13	108861083	108861083	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861083A>G	ENST00000356922.4	-	2	2806	c.2534T>C	c.(2533-2535)cTt>cCt	p.L845P	LIG4_ENST00000405925.1_Missense_Mutation_p.L845P|LIG4_ENST00000442234.1_Missense_Mutation_p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	845	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATGAAACCGAAGCTCCAAGGC	0.403								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2533-2535)cTt>cCt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							100.0	99.0	99.0					13																	108861083		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861083A>G	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2534T>C	13.37:g.108861083A>G	ENSP00000349393:p.Leu845Pro					LIG4_ENST00000442234.1_Missense_Mutation_p.L845P|LIG4_ENST00000405925.1_Missense_Mutation_p.L845P	p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2806	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		845			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2534T>C	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214628	0.79352	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.81499	-1.5;-1.5;-1.5	5.75	5.75	0.90469	BRCT (4);	0.193178	0.45606	D	0.000356	D	0.89136	0.6629	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90222	0.4272	10	0.72032	D	0.01	.	15.2891	0.73852	1.0:0.0:0.0:0.0	.	845	P49917	DNLI4_HUMAN	P	845	ENSP00000385955:L845P;ENSP00000402030:L845P;ENSP00000349393:L845P	ENSP00000349393:L845P	L	-	2	0	LIG4	107659084	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.652000	0.91083	2.209000	0.71365	0.462000	0.41574	CTT		0.403	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		10	366	0	0	0	1	0	10	366				
LGALS4	3960	broad.mit.edu	37	19	39294407	39294407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39294407C>T	ENST00000307751.4	-	6	992	c.515G>A	c.(514-516)tGc>tAc	p.C172Y	LGALS4_ENST00000597803.1_5'Flank	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	172					cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGTTGATGGCAATGTCCGGG	0.607																																						ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(514-516)tGc>tAc		lectin, galactoside-binding, soluble, 4							54.0	54.0	54.0					19																	39294407		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39294407C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.515G>A	19.37:g.39294407C>T	ENSP00000302100:p.Cys172Tyr						p.C172Y	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		6	992	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		172						Missense_Mutation	SNP	ENST00000307751.4	37	c.515G>A	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513905	0.00975	.	.	ENSG00000171747	ENST00000307751	T	0.04758	3.56	4.97	-9.95	0.00446	.	4.500960	0.00166	N	0.000001	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	10	0.02654	T	1	2.524	3.8296	0.08868	0.0939:0.1841:0.4266:0.2954	.	172	P56470	LEG4_HUMAN	Y	172	ENSP00000302100:C172Y	ENSP00000302100:C172Y	C	-	2	0	LGALS4	43986247	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.699000	0.01906	-1.700000	0.01414	-1.291000	0.01355	TGC		0.607	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		23	117	0	0	0	1	0	23	117				
NNT	23530	broad.mit.edu	37	5	43659279	43659279	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43659279A>T	ENST00000264663.5	+	17	2682	c.2461A>T	c.(2461-2463)Act>Tct	p.T821S	NNT_ENST00000344920.4_Missense_Mutation_p.T821S|NNT_ENST00000512996.2_Missense_Mutation_p.T690S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	821					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CTAGGGTGTGACTTTGACAGC	0.423																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2461-2463)Act>Tct		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						148.0	147.0	147.0					5																	43659279		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43659279A>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2461A>T	5.37:g.43659279A>T	ENSP00000264663:p.Thr821Ser					NNT_ENST00000344920.4_Missense_Mutation_p.T821S|NNT_ENST00000512996.2_Missense_Mutation_p.T690S	p.T821S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			17	2682	+	Lung NSC(6;2.58e-06)		821					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2461A>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469504	0.63625	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91407	-2.84;-2.84;-2.84	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.90019	3.08	0.80722	D	1	P	0.51449	0.945	P	0.51582	0.674	D	0.92962	0.6390	10	0.10902	T	0.67	-26.4641	16.3742	0.83379	1.0:0.0:0.0:0.0	.	821	Q13423	NNTM_HUMAN	S	336;821;821;690	ENSP00000264663:T821S;ENSP00000343873:T821S;ENSP00000426343:T690S	ENSP00000264663:T821S	T	+	1	0	NNT	43695036	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.962000	0.93254	2.263000	0.75096	0.533000	0.62120	ACT		0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		136	616	0	0	0	1	0	136	616				
MTRF1L	54516	broad.mit.edu	37	6	153315696	153315696	+	Silent	SNP	G	G	A	rs372750968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153315696G>A	ENST00000367233.5	-	4	638	c.639C>T	c.(637-639)cgC>cgT	p.R213R	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_Silent_p.R213R|MTRF1L_ENST00000367230.1_Silent_p.R177R	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	213						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TAGTATGGACGCGGCCTTGCT	0.507																																						ENST00000367233.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(637-639)cgC>cgT		mitochondrial translational release factor 1-like		G	,	2,4404	4.2+/-10.8	0,2,2201	183.0	159.0	168.0		639,639	4.1	1.0	6		168	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTRF1L	NM_001114184.1,NM_019041.5	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	213/272,213/381	153315696	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153315696G>A	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.639C>T	6.37:g.153315696G>A						MTRF1L_ENST00000367231.5_Silent_p.R213R|MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.R177R	p.R213R	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	4	638	-		Ovarian(120;0.125)	213					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	c.639C>T	CCDS5243.1																																																																																				0.507	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		97	432	0	0	0	1	0	97	432				
PROSER1	80209	broad.mit.edu	37	13	39587359	39587359	+	Missense_Mutation	SNP	G	G	T	rs145907115		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39587359G>T	ENST00000352251.3	-	11	2863	c.2030C>A	c.(2029-2031)tCc>tAc	p.S677Y	PROSER1_ENST00000350125.3_Missense_Mutation_p.S655Y|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	677	Ser-rich.																GGAAATAGAGGAAAGAGGATT	0.428																																						ENST00000352251.3																			0											c.(2029-2031)tCc>tAc		proline and serine rich 1							124.0	117.0	119.0					13																	39587359		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587359G>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2030C>A	13.37:g.39587359G>T	ENSP00000332034:p.Ser677Tyr					PROSER1_ENST00000350125.3_Missense_Mutation_p.S655Y|PROSER1_ENST00000484434.2_Intron	p.S677Y	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			11	2863	-			677			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.2030C>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025705	0.75390	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.50548	0.74;0.74	4.9	4.9	0.64082	.	.	.	.	.	T	0.53286	0.1787	N	0.24115	0.695	0.48452	D	0.99965	D;D	0.67145	0.996;0.996	D;D	0.65874	0.939;0.939	T	0.50668	-0.8801	8	.	.	.	-11.1091	17.4181	0.87506	0.0:0.0:1.0:0.0	.	655;677	A6NJ97;Q86XN7	.;PRSR1_HUMAN	Y	677;655	ENSP00000332034:S677Y;ENSP00000339123:S655Y	.	S	-	2	0	PROSER1	38485359	0.985000	0.35326	0.033000	0.17914	0.687000	0.40016	5.668000	0.68074	2.421000	0.82119	0.561000	0.74099	TCC		0.428	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		68	361	1	0	3.07281e-33	1	3.63882e-33	68	361				
FAM173B	134145	broad.mit.edu	37	5	10239412	10239412	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10239412T>G	ENST00000511437.1	-	2	85	c.73A>C	c.(73-75)Agt>Cgt	p.S25R	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	25						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTCAAAACTTGCAGGTAGA	0.463																																						ENST00000511437.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(73-75)Agt>Cgt		family with sequence similarity 173, member B							107.0	112.0	110.0					5																	10239412		1907	4118	6025	SO:0001583	missense	134145					integral to membrane		g.chr5:10239412T>G		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.73A>C	5.37:g.10239412T>G	ENSP00000422338:p.Ser25Arg					FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	p.S25R	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN			2	85	-			25					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.73A>C	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616075	0.28801	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.19669	2.13;2.16	5.19	1.41	0.22369	.	1.081510	0.06847	N	0.796684	T	0.20047	0.0482	M	0.61703	1.905	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.004;0.005	T	0.35475	-0.9787	10	0.26408	T	0.33	-6.5071	3.1427	0.06461	0.2791:0.2294:0.0:0.4915	.	25;25	E9PBZ4;Q6P4H8	.;F173B_HUMAN	R	25	ENSP00000422338:S25R;ENSP00000420876:S25R	ENSP00000424210:S25R	S	-	1	0	FAM173B	10292412	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	0.040000	0.13905	0.012000	0.14892	0.533000	0.62120	AGT		0.463	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		106	424	0	0	0	1	0	106	424				
CCDC13	152206	broad.mit.edu	37	3	42775003	42775003	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42775003C>T	ENST00000310232.6	-	11	1553	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	490										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGCTGAGGCCGGGGACTTGG	0.547																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1468-1470)ccG>ccA		coiled-coil domain containing 13							127.0	140.0	136.0					3																	42775003		2203	4300	6503	SO:0001819	synonymous_variant	152206							g.chr3:42775003C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1470G>A	3.37:g.42775003C>T						CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	p.P490P	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			11	1553	-			490						Silent	SNP	ENST00000310232.6	37	c.1470G>A	CCDS2705.1																																																																																				0.547	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		214	1022	0	0	0	1	0	214	1022				
ALDH1A3	220	broad.mit.edu	37	15	101448629	101448629	+	Missense_Mutation	SNP	G	G	A	rs147752643	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101448629G>A	ENST00000329841.5	+	12	1940	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	470					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CTGCTACAACGCCCTCTATGC	0.512																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1408-1410)Gcc>Acc		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)	G	THR/ALA	0,4406		0,0,2203	134.0	115.0	121.0		1408	5.2	0.5	15	dbSNP_134	121	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ALDH1A3	NM_000693.2	58	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	470/513	101448629	5,13001	2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101448629G>A	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1408G>A	15.37:g.101448629G>A	ENSP00000332256:p.Ala470Thr					RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T	p.A470T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		12	1940	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		470					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.1408G>A	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280781	0.59758	0.0	5.81E-4	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.14640	2.49	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050216	0.85682	D	0.000000	T	0.20495	0.0493	N	0.16833	0.445	0.58432	D	0.999999	D;P	0.71674	0.998;0.927	D;B	0.66084	0.941;0.184	T	0.03278	-1.1053	10	0.42905	T	0.14	.	14.5249	0.67881	0.0:0.0:0.853:0.147	.	374;470	Q7Z3A2;P47895	.;AL1A3_HUMAN	T	470;374	ENSP00000332256:A470T	ENSP00000332256:A470T	A	+	1	0	ALDH1A3	99266152	1.000000	0.71417	0.485000	0.27403	0.340000	0.28889	5.457000	0.66672	2.430000	0.82344	0.643000	0.83706	GCC		0.512	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			61	324	0	0	0	1	0	61	324				
CDC5L	988	broad.mit.edu	37	6	44394257	44394257	+	Silent	SNP	G	G	A	rs375237261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44394257G>A	ENST00000371477.3	+	13	1988	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	563	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGTAGAACCGCCTTTAACAG	0.284																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1687-1689)ccG>ccA		cell division cycle 5-like		G		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	51.0		1689	-2.5	1.0	6		51	0,8596		0,0,4298	no	coding-synonymous	CDC5L	NM_001253.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		563/803	44394257	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44394257G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1689G>A	6.37:g.44394257G>A							p.P563P	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		13	1988	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		563			Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.		Q76N46|Q99974	Silent	SNP	ENST00000371477.3	37	c.1689G>A	CCDS4912.1																																																																																				0.284	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			5	175	0	0	0	1	0	5	175				
ZBTB45	84878	broad.mit.edu	37	19	59027866	59027866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027866G>A	ENST00000594051.1	-	2	1655	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	392	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGTGCGAGCAGGGGTGCCTGA	0.642																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(1174-1176)cCt>cTt		zinc finger and BTB domain containing 45							38.0	39.0	39.0					19																	59027866		2203	4300	6503	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59027866G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1175C>T	19.37:g.59027866G>A	ENSP00000469089:p.Pro392Leu					ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L	p.P392L			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1655	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	392			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.1175C>T	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.615762	0.28801	.	.	ENSG00000119574	ENST00000354590	T	0.11712	2.75	3.41	2.31	0.28768	.	0.269932	0.29760	N	0.011269	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30060	-0.9991	10	0.54805	T	0.06	.	10.4857	0.44719	0.0:0.2004:0.7996:0.0	.	392	Q96K62	ZBT45_HUMAN	L	392	ENSP00000346603:P392L	ENSP00000346603:P392L	P	-	2	0	ZBTB45	63719678	0.827000	0.29292	0.005000	0.12908	0.256000	0.26092	4.923000	0.63412	0.953000	0.37825	0.467000	0.42956	CCT		0.642	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		30	146	0	0	0	1	0	30	146				
MAP7D1	55700	broad.mit.edu	37	1	36642421	36642421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642421G>A	ENST00000373151.2	+	8	1573	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MAP7D1_ENST00000373150.4_Missense_Mutation_p.A421T|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Missense_Mutation_p.A416T|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	453					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCGCCTCTCTGCCAGCACCGC	0.647																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1246-1248)Gcc>Acc		MAP7 domain containing 1							10.0	18.0	15.0					1																	36642421		2124	4183	6307	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36642421G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1357G>A	1.37:g.36642421G>A	ENSP00000362244:p.Ala453Thr					MAP7D1_ENST00000373150.4_Missense_Mutation_p.A421T|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.A453T	p.A416T			Q3KQU3	MA7D1_HUMAN			7	1699	+		Myeloproliferative disorder(586;0.0393)	453					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.1246G>A	CCDS30673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.64|10.64	1.407987|1.407987	0.25378|0.25378	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151|ENST00000530975	T;T;T|.	0.16196|.	3.56;2.36;3.56|.	4.52|4.52	-5.79|-5.79	0.02354|0.02354	.|.	0.456133|.	0.16372|.	N|.	0.217268|.	T|T	0.30166|0.30166	0.0756|0.0756	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.25441|.	0.126;0.0;0.0;0.126|.	B;B;B;B|.	0.19946|.	0.027;0.001;0.001;0.027|.	T|T	0.36841|0.36841	-0.9731|-0.9731	10|5	0.45353|.	T|.	0.12|.	0.0076|0.0076	0.7636|0.7636	0.01011|0.01011	0.3726:0.1128:0.1722:0.3424|0.3726:0.1128:0.1722:0.3424	.|.	453;416;421;453|.	D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3|.	.;.;.;MA7D1_HUMAN|.	T|Y	416;421;453|35	ENSP00000320228:A416T;ENSP00000362243:A421T;ENSP00000362244:A453T|.	ENSP00000320228:A416T|.	A|C	+|+	1|2	0|0	MAP7D1|MAP7D1	36415008|36415008	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.182000|-1.182000	0.03082|0.03082	-0.856000|-0.856000	0.04120|0.04120	-0.314000|-0.314000	0.08810|0.08810	GCC|TGC		0.647	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		6	48	0	0	0	1	0	6	48				
ASPM	259266	broad.mit.edu	37	1	197071117	197071117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197071117G>A	ENST00000367409.4	-	18	7520	c.7264C>T	c.(7264-7266)Ctg>Ttg	p.L2422L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2422	IQ 25. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTCACCAGTAATGATCTA	0.383																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(7264-7266)Ctg>Ttg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							103.0	106.0	105.0					1																	197071117		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071117G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7264C>T	1.37:g.197071117G>A						ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.L2422L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7520	-			2422			IQ 25.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.7264C>T	CCDS1389.1																																																																																				0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		103	559	0	0	0	1	0	103	559				
TMC2	117532	broad.mit.edu	37	20	2552886	2552886	+	Silent	SNP	C	C	T	rs368277548		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2552886C>T	ENST00000358864.1	+	5	631	c.616C>T	c.(616-618)Cta>Tta	p.L206L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	206	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGCAAGCAACTATATGCCTA	0.498																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(616-618)Cta>Tta		transmembrane channel-like 2							118.0	111.0	113.0					20																	2552886		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2552886C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.616C>T	20.37:g.2552886C>T							p.L206L	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			5	631	+			206			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.616C>T	CCDS13029.2																																																																																				0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			56	251	0	0	0	1	0	56	251				
PSME4	23198	broad.mit.edu	37	2	54133798	54133798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54133798G>A	ENST00000404125.1	-	26	2935	c.2880C>T	c.(2878-2880)taC>taT	p.Y960Y	PSME4_ENST00000421748.2_Silent_p.Y104Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	960					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTATCTTTTTGTATTCACAAC	0.358																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2878-2880)taC>taT		proteasome (prosome, macropain) activator subunit 4							153.0	152.0	152.0					2																	54133798		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133798G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2880C>T	2.37:g.54133798G>A						PSME4_ENST00000421748.2_Silent_p.Y104Y	p.Y960Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		26	2935	-			960					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.2880C>T	CCDS33197.2																																																																																				0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		69	342	0	0	0	1	0	69	342				
SZT2	23334	broad.mit.edu	37	1	43890022	43890022	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43890022G>A	ENST00000372442.1	+	0	326				SZT2_ENST00000562955.1_Missense_Mutation_p.R797H			Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)						central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TACCATCAGCGCTGGCTTTGG	0.607																																						ENST00000372442.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113								seizure threshold 2 homolog (mouse)							103.0	91.0	95.0					1																	43890022		876	1990	2866			23334					peroxisome		g.chr1:43890022G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000372442.1:c.-137G>A	1.37:g.43890022G>A						SZT2_ENST00000562955.1_Missense_Mutation_p.R797H				Q5T011	SZT2_HUMAN			0	326	+								A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Translation_Start_Site	SNP	ENST00000372442.1	37																																																																																						0.607	SZT2-202	KNOWN	basic	protein_coding	protein_coding		NM_015284		36	297	0	0	0	1	0	36	297				
EMC7	56851	broad.mit.edu	37	15	34380269	34380269	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34380269A>G	ENST00000256545.4	-	4	669	c.561T>C	c.(559-561)gaT>gaC	p.D187D		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	187						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TCATGTCAGGATCACTTGTGT	0.388																																						ENST00000256545.4																			0											c.(559-561)gaT>gaC		ER membrane protein complex subunit 7							82.0	77.0	79.0					15																	34380269		2201	4298	6499	SO:0001819	synonymous_variant	56851							g.chr15:34380269A>G	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.561T>C	15.37:g.34380269A>G							p.D187D	NM_020154.2	NP_064539.1					4	669	-								B2RC00|Q96ED5	Silent	SNP	ENST00000256545.4	37	c.561T>C	CCDS10032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.889|8.889	0.953593|0.953593	0.18431|0.18431	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000528949|ENST00000527822	.|.	.|.	.|.	5.54|5.54	1.93|1.93	0.25924|0.25924	.|.	.|.	.|.	.|.	.|.	T|T	0.57533|0.57533	0.2060|0.2060	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49123|0.49123	-0.8972|-0.8972	4|4	.|.	.|.	.|.	-15.6203|-15.6203	8.7488|8.7488	0.34602|0.34602	0.7228:0.0:0.2772:0.0|0.7228:0.0:0.2772:0.0	.|.	.|.	.|.	.|.	T|P	123|137	.|.	.|.	I|S	-|-	2|1	0|0	C15orf24|C15orf24	32167561|32167561	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.850000|0.850000	0.27737|0.27737	0.161000|0.161000	0.19458|0.19458	0.528000|0.528000	0.53228|0.53228	ATC|TCC		0.388	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		5	92	0	0	0	1	0	5	92				
ZMYM2	7750	broad.mit.edu	37	13	20635250	20635250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20635250G>A	ENST00000382874.2	+	18	2987	c.2797G>A	c.(2797-2799)Gca>Aca	p.A933T	ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382869.3_Missense_Mutation_p.A933T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATTCCTGCAGCAATTGAGGA	0.408																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(2797-2799)Gca>Aca		zinc finger, MYM-type 2							64.0	61.0	62.0					13																	20635250		1898	4134	6032	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20635250G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2797G>A	13.37:g.20635250G>A	ENSP00000372327:p.Ala933Thr					ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382874.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382870.2_Missense_Mutation_p.A313T	p.A933T	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	17	3048	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	933					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.2797G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136700	0.06711	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.15718	2.4	5.54	2.83	0.33086	.	0.542317	0.22326	N	0.061523	T	0.08179	0.0204	N	0.16233	0.39	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.40869	-0.9540	10	0.02654	T	1	-1.6549	9.643	0.39850	0.0659:0.0:0.6795:0.2546	.	933	Q9UBW7	ZMYM2_HUMAN	T	933;933;931;931;311	ENSP00000372322:A933T	ENSP00000372322:A933T	A	+	1	0	ZMYM2	19533250	0.002000	0.14202	0.007000	0.13788	0.877000	0.50540	1.299000	0.33424	0.369000	0.24510	0.655000	0.94253	GCA		0.408	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		20	68	0	0	0	1	0	20	68				
DSC1	1823	broad.mit.edu	37	18	28725591	28725591	+	Missense_Mutation	SNP	G	G	A	rs369709593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28725591G>A	ENST00000257198.5	-	7	1183	c.922C>T	c.(922-924)Cct>Tct	p.P308S	DSC1_ENST00000257197.3_Missense_Mutation_p.P308S|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	308	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCAGAAAAGGTGTAGTTGTG	0.373																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(922-924)Cct>Tct		desmocollin 1		G	SER/PRO,SER/PRO	2,4404	4.2+/-10.8	0,2,2201	159.0	154.0	156.0		922,922	-0.6	0.0	18		156	0,8600		0,0,4300	no	missense,missense	DSC1	NM_024421.2,NM_004948.3	74,74	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	308/895,308/841	28725591	2,13004	2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28725591G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.922C>T	18.37:g.28725591G>A	ENSP00000257198:p.Pro308Ser					RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P308S	p.P308S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1183	-			308			Cadherin 2.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.922C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164066	0.01673	4.54E-4	0.0	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.54675	0.56;0.56	5.32	-0.572	0.11745	Cadherin (4);Cadherin-like (1);	0.446761	0.18957	N	0.126507	T	0.22475	0.0542	N	0.05554	-0.025	0.09310	N	1	B;B	0.18461	0.028;0.012	B;B	0.15052	0.012;0.012	T	0.14254	-1.0479	10	0.13853	T	0.58	.	4.2214	0.10559	0.3703:0.0:0.3952:0.2345	.	308;308	Q08554;Q9HB00	DSC1_HUMAN;.	S	308	ENSP00000257197:P308S;ENSP00000257198:P308S	ENSP00000257197:P308S	P	-	1	0	DSC1	26979589	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-0.228000	0.09114	0.182000	0.20032	0.484000	0.47621	CCT		0.373	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		86	398	0	0	0	1	0	86	398				
ACRC	93953	broad.mit.edu	37	X	70824397	70824397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70824397C>T	ENST00000373695.1	+	7	1807	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	ACRC_ENST00000373696.3_Missense_Mutation_p.P424S			Q96QF7	ACRC_HUMAN	acidic repeat containing	424	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTGGAGCCACCGAGGAAAAG	0.463																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1270-1272)Ccg>Tcg		acidic repeat containing							60.0	43.0	49.0					X																	70824397		2201	4297	6498	SO:0001583	missense	93953					nucleus		g.chrX:70824397C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1270C>T	X.37:g.70824397C>T	ENSP00000362799:p.Pro424Ser					ACRC_ENST00000373696.3_Missense_Mutation_p.P424S	p.P424S			Q96QF7	ACRC_HUMAN			7	1807	+	Renal(35;0.156)		424			Arg/Lys/Pro-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1270C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	3.952	-0.012026	0.07727	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30448	1.53;1.53	0.656	0.656	0.17844	.	.	.	.	.	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	8	0.08179	T	0.78	.	.	.	.	.	424	Q96QF7	ACRC_HUMAN	S	424	ENSP00000362800:P424S;ENSP00000362799:P424S	ENSP00000362799:P424S	P	+	1	0	ACRC	70741122	0.001000	0.12720	0.008000	0.14137	0.007000	0.05969	-1.000000	0.03693	0.559000	0.29153	0.271000	0.19318	CCG		0.463	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			11	36	0	0	0	1	0	11	36				
NAA16	79612	broad.mit.edu	37	13	41899884	41899884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41899884G>T	ENST00000379406.3	+	6	912	c.588G>T	c.(586-588)caG>caT	p.Q196H	NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H|NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	196					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATTATACCAGAATCAAGTGA	0.284																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(586-588)caG>caT		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							57.0	64.0	61.0					13																	41899884		2203	4299	6502	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41899884G>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.588G>T	13.37:g.41899884G>T	ENSP00000368716:p.Gln196His					NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H|NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H	p.Q196H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			6	912	+			196					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.588G>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540615	0.65085	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.45668	0.89;0.89;0.89	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000006	T	0.56863	0.2014	L	0.52573	1.65	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.81914	0.995;0.967;0.986	T	0.52540	-0.8562	10	0.35671	T	0.21	-7.1618	14.0039	0.64451	0.0756:0.0:0.9244:0.0	.	196;196;196	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	H	196	ENSP00000368674:Q196H;ENSP00000368716:Q196H;ENSP00000386103:Q196H	ENSP00000368674:Q196H	Q	+	3	2	NAA16	40797884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.847000	0.48270	2.418000	0.82041	0.557000	0.71058	CAG		0.284	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		23	214	1	0	9.57634e-11	1	1.01752e-10	23	214				
TMA16	55319	broad.mit.edu	37	4	164434003	164434003	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164434003A>C	ENST00000358572.5	+	3	487	c.146A>C	c.(145-147)aAc>aCc	p.N49T	TMA16_ENST00000513272.1_Missense_Mutation_p.N49T|TMA16_ENST00000513134.1_Missense_Mutation_p.N49T|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000508268.1_Missense_Mutation_p.N49T	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	49						nucleus (GO:0005634)											TTGCGTCTCAACCTTGTTGGT	0.333																																						ENST00000358572.5																			0											c.(145-147)aAc>aCc		translation machinery associated 16 homolog (S. cerevisiae)							94.0	90.0	91.0					4																	164434003		1808	4074	5882	SO:0001583	missense	55319							g.chr4:164434003A>C		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.146A>C	4.37:g.164434003A>C	ENSP00000351380:p.Asn49Thr					TMA16_ENST00000513272.1_Missense_Mutation_p.N49T|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_Missense_Mutation_p.N49T|TMA16_ENST00000508268.1_Missense_Mutation_p.N49T	p.N49T	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN			3	487	+			49					Q0P6E4|Q0P6J1|Q9NUR7	Missense_Mutation	SNP	ENST00000358572.5	37	c.146A>C	CCDS43278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.62|15.62	2.887367|2.887367	0.52014|0.52014	.|.	.|.	ENSG00000198498|ENSG00000198498	ENST00000358572;ENST00000513272;ENST00000513134;ENST00000508268|ENST00000509657	T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53|.	5.84|5.84	2.09|2.09	0.27110|0.27110	.|.	0.120016|.	0.85682|.	D|.	0.000000|.	T|T	0.64527|0.64527	0.2606|0.2606	M|M	0.76002|0.76002	2.32|2.32	0.44643|0.44643	D|D	0.997624|0.997624	B|.	0.30634|.	0.288|.	B|.	0.30105|.	0.111|.	T|T	0.59648|0.59648	-0.7415|-0.7415	10|5	0.14656|.	T|.	0.56|.	-20.6068|-20.6068	8.5245|8.5245	0.33296|0.33296	0.613:0.0:0.387:0.0|0.613:0.0:0.387:0.0	.|.	49|.	Q96EY4|.	CD043_HUMAN|.	T|H	49|87	ENSP00000351380:N49T;ENSP00000426933:N49T;ENSP00000423901:N49T;ENSP00000423375:N49T|.	ENSP00000351380:N49T|.	N|Q	+|+	2|3	0|2	C4orf43|C4orf43	164653453|164653453	0.940000|0.940000	0.31905|0.31905	0.977000|0.977000	0.42913|0.42913	0.838000|0.838000	0.47535|0.47535	0.681000|0.681000	0.25320|0.25320	0.146000|0.146000	0.19002|0.19002	-0.263000|-0.263000	0.10527|0.10527	AAC|CAA		0.333	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		59	228	0	0	0	1	0	59	228				
CYP11B1	1584	broad.mit.edu	37	8	143956537	143956537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143956537G>A	ENST00000292427.4	-	8	1266	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	412					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R412C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCGGGGTTGCGACCCAGAGAG	0.627									Familial Hyperaldosteronism type I																													ENST00000292427.4																			1	Substitution - Missense(1)	p.R412C(1)	skin(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1234-1236)Cgc>Tgc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						94.0	90.0	91.0					8																	143956537		2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956537G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1234C>T	8.37:g.143956537G>A	ENSP00000292427:p.Arg412Cys					CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C	p.R412C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			8	1266	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		412					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1234C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.126496	0.37533	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.74632	1.04;-0.86;-0.86	4.22	4.22	0.49857	.	0.000000	0.46442	D	0.000281	D	0.88672	0.6500	M	0.92122	3.275	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.963	D	0.91324	0.5084	10	0.66056	D	0.02	.	14.4165	0.67153	0.0:0.0:1.0:0.0	.	483;412;412	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	C	90;412;483	ENSP00000430144:R90C;ENSP00000292427:R412C;ENSP00000366903:R483C	ENSP00000292427:R412C	R	-	1	0	CYP11B1	143953539	1.000000	0.71417	0.440000	0.26846	0.064000	0.16182	3.671000	0.54576	2.059000	0.61396	0.561000	0.74099	CGC		0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			91	399	0	0	0	1	0	91	399				
HIVEP1	3096	broad.mit.edu	37	6	12124078	12124078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12124078C>T	ENST00000379388.2	+	4	4382	c.4050C>T	c.(4048-4050)ggC>ggT	p.G1350G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCAGCTGGCTTGAATACTC	0.438																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(4048-4050)ggC>ggT		human immunodeficiency virus type I enhancer binding protein 1							68.0	64.0	65.0					6																	12124078		1902	4128	6030	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124078C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4050C>T	6.37:g.12124078C>T							p.G1350G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4382	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1350					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.4050C>T	CCDS43426.1																																																																																				0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		14	246	0	0	0	1	0	14	246				
DUT	1854	broad.mit.edu	37	15	48628255	48628255	+	Missense_Mutation	SNP	G	G	A	rs373308210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48628255G>A	ENST00000331200.3	+	4	617	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000561350.1_3'UTR|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000559540.1_Missense_Mutation_p.G87D|DUT_ENST00000558813.1_Missense_Mutation_p.G64D|DUT_ENST00000559935.1_Missense_Mutation_p.G90D	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	175	Substrate binding.			G -> S (in Ref. 6; BAF84204). {ECO:0000305}.	DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CCACGGTCAGGCTTGGCTGCA	0.328								Modulation of nucleotide pools																														ENST00000331200.3																			0				kidney(2)	2						c.(523-525)gGc>gAc	Modulation of nucleotide pools	deoxyuridine triphosphatase		G	ASP/GLY,ASP/GLY,ASP/GLY	0,4396		0,0,2198	173.0	163.0	166.0		524,191,260	5.3	1.0	15		166	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	DUT	NM_001025248.1,NM_001025249.1,NM_001948.3	94,94,94	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	175/253,64/142,87/165	48628255	1,12989	2198	4297	6495	SO:0001583	missense	1854				DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding	g.chr15:48628255G>A	M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"""dUTP pyrophosphatase"""			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.524G>A	15.37:g.48628255G>A	ENSP00000370376:p.Gly175Asp					DUT_ENST00000561350.1_3'UTR|DUT_ENST00000559935.1_Missense_Mutation_p.G90D|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000558813.1_Missense_Mutation_p.G64D|DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000559540.1_Missense_Mutation_p.G87D	p.G175D	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)	4	617	+		all_lung(180;0.00265)	175	G -> S (in Ref. 6; BAF84204).		Substrate binding.		A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Missense_Mutation	SNP	ENST00000331200.3	37	c.524G>A	CCDS32231.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357620	0.82243	0.0	1.16E-4	ENSG00000128951	ENST00000331200;ENST00000450740;ENST00000249783;ENST00000455976	T;T	0.61274	0.12;0.35	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91393	0.5137	10	0.87932	D	0	.	17.9865	0.89157	0.0:0.0:1.0:0.0	.	87;175	P33316-2;P33316	.;DUT_HUMAN	D	175;64;173;87	ENSP00000370376:G175D;ENSP00000405160:G87D	ENSP00000249783:G173D	G	+	2	0	DUT	46415547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.631000	0.83237	2.607000	0.88179	0.655000	0.94253	GGC		0.328	DUT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417142.2			51	234	0	0	0	1	0	51	234				
TKT	7086	broad.mit.edu	37	3	53265548	53265548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265548G>T	ENST00000462138.1	-	7	855	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000296289.6_Missense_Mutation_p.S209Y|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	256					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCCATGCCAAGACTCCTTATC	0.562																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(766-768)tCt>tAt		transketolase	Thiamine(DB00152)						94.0	83.0	87.0					3																	53265548		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53265548G>T		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.767C>A	3.37:g.53265548G>T	ENSP00000417773:p.Ser256Tyr					TKT_ENST00000296289.6_Missense_Mutation_p.S209Y|TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y	p.S256Y			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	7	855	-		Prostate(884;0.0959)	256					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.767C>A	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	4.436	0.080646	0.08533	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.69	2.94	0.34122	Transketolase, N-terminal (1);	1.130530	0.06411	N	0.720678	T	0.39911	0.1096	M	0.70842	2.15	0.09310	N	1	P;B;B	0.36354	0.549;0.014;0.014	B;B;B	0.43478	0.421;0.043;0.027	T	0.37572	-0.9700	10	0.72032	D	0.01	-11.315	4.1666	0.10310	0.0692:0.2428:0.3554:0.3326	.	264;173;256	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	Y	256;256;264;209;90	ENSP00000417773:S256Y;ENSP00000405455:S256Y;ENSP00000391481:S264Y;ENSP00000296289:S209Y	ENSP00000296289:S209Y	S	-	2	0	TKT	53240588	0.959000	0.32827	0.268000	0.24571	0.036000	0.12997	1.633000	0.37113	0.346000	0.23899	-0.122000	0.15005	TCT		0.562	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			38	195	1	0	8.69298e-16	1	9.51602e-16	38	195				
FAM195A	84331	broad.mit.edu	37	16	697444	697444	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:697444T>G	ENST00000307650.4	+	3	389	c.210T>G	c.(208-210)cgT>cgG	p.R70R	WDR90_ENST00000549091.1_5'Flank|WDR90_ENST00000293879.4_5'Flank|AL022341.3_ENST00000455294.1_RNA	NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	70										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						TGTTCAATCGTGTGAATGGCC	0.632																																						ENST00000307650.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						c.(208-210)cgT>cgG		family with sequence similarity 195, member A							84.0	75.0	78.0					16																	697444		2200	4300	6500	SO:0001819	synonymous_variant	84331							g.chr16:697444T>G	BC001912	CCDS10415.1	16p13.3	2009-09-10	2009-09-10	2009-09-10	ENSG00000172366	ENSG00000172366			14142	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 14"""	C16orf14		12477932	Standard	NM_138418		Approved	MGC15416	uc002cic.1	Q9BUT9	OTTHUMG00000048042	ENST00000307650.4:c.210T>G	16.37:g.697444T>G							p.R70R	NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN			3	389	+			70					Q969E9|Q96KV8	Silent	SNP	ENST00000307650.4	37	c.210T>G	CCDS10415.1																																																																																				0.632	FAM195A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109347.2	NM_138418		56	213	0	0	0	1	0	56	213				
CHD9	80205	broad.mit.edu	37	16	53338106	53338106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53338106C>A	ENST00000398510.3	+	30	6275	c.6188C>A	c.(6187-6189)tCt>tAt	p.S2063Y	CHD9_ENST00000566029.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2063					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAGAAGAATCTATGTCTTCT	0.408																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6187-6189)tCt>tAt		chromodomain helicase DNA binding protein 9							36.0	34.0	34.0					16																	53338106		1840	4082	5922	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338106C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6188C>A	16.37:g.53338106C>A	ENSP00000381522:p.Ser2063Tyr					CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000398510.3_Missense_Mutation_p.S2063Y	p.S2063Y			Q3L8U1	CHD9_HUMAN			31	6397	+		all_cancers(37;0.0212)	2063					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6188C>A		.	.	.	.	.	.	.	.	.	.	C	19.52	3.843191	0.71488	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.71934	-0.61;-0.61	6.16	6.16	0.99307	.	0.099037	0.45126	D	0.000383	D	0.83308	0.5226	L	0.57536	1.79	0.53005	D	0.999963	D;D;D;D	0.71674	0.995;0.998;0.995;0.997	D;D;D;D	0.80764	0.986;0.935;0.986;0.994	T	0.82645	-0.0355	10	0.72032	D	0.01	-16.9328	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2063;2063;2063;2063	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2063	ENSP00000396345:S2063Y;ENSP00000381522:S2063Y	ENSP00000381522:S2063Y	S	+	2	0	CHD9	51895607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.256000	0.65468	2.937000	0.99478	0.650000	0.86243	TCT		0.408	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		11	64	1	0	0.000673444	1	0.000681208	11	64				
TCF20	6942	broad.mit.edu	37	22	42611246	42611246	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42611246G>A	ENST00000359486.3	-	1	202	c.66C>T	c.(64-66)caC>caT	p.H22H	TCF20_ENST00000335626.4_Silent_p.H22H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGGATGAGCCGTGTACCTCCT	0.567																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(64-66)caC>caT		transcription factor 20 (AR1)							74.0	65.0	68.0					22																	42611246		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42611246G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.66C>T	22.37:g.42611246G>A						TCF20_ENST00000335626.4_Silent_p.H22H	p.H22H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	202	-			22					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.66C>T	CCDS14033.1																																																																																				0.567	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		55	274	0	0	0	1	0	55	274				
DHX30	22907	broad.mit.edu	37	3	47882405	47882405	+	Silent	SNP	C	C	T	rs374999228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47882405C>T	ENST00000445061.1	+	7	812	c.405C>T	c.(403-405)gaC>gaT	p.D135D	DHX30_ENST00000446256.2_Silent_p.D96D|DHX30_ENST00000457607.1_Silent_p.D163D|DHX30_ENST00000348968.4_Silent_p.D107D	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	135						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTGTTTGACGCAGCCAAAT	0.582																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(286-288)gaC>gaT		DEAH (Asp-Glu-Ala-His) box helicase 30		C	,	0,4406		0,0,2203	61.0	56.0	58.0		288,405	1.0	1.0	3		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DHX30	NM_014966.3,NM_138615.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/1156,135/1195	47882405	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882405C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.405C>T	3.37:g.47882405C>T						DHX30_ENST00000445061.1_Silent_p.D135D|DHX30_ENST00000348968.4_Silent_p.D107D|DHX30_ENST00000457607.1_Silent_p.D163D	p.D96D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	860	+			135			DRBM.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.288C>T	CCDS2759.1																																																																																				0.582	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		63	284	0	0	0	1	0	63	284				
DISP1	84976	broad.mit.edu	37	1	223178682	223178682	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178682C>A	ENST00000284476.6	+	8	4107	c.3943C>A	c.(3943-3945)Ctg>Atg	p.L1315M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1315					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CGTGGCACCTCTGAAGGCCAC	0.592																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3943-3945)Ctg>Atg		dispatched homolog 1 (Drosophila)							83.0	75.0	78.0					1																	223178682		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178682C>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3943C>A	1.37:g.223178682C>A	ENSP00000284476:p.Leu1315Met						p.L1315M	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4107	+			1315					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3943C>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894442	0.17613	.	.	ENSG00000154309	ENST00000284476	D	0.94046	-3.34	5.7	4.79	0.61399	.	0.600559	0.16431	N	0.214719	D	0.88224	0.6379	L	0.29908	0.895	0.09310	N	1	B	0.34103	0.437	B	0.35353	0.201	T	0.80578	-0.1320	10	0.42905	T	0.14	-5.5401	9.0276	0.36239	0.155:0.7684:0.0:0.0766	.	1315	Q96F81	DISP1_HUMAN	M	1315	ENSP00000284476:L1315M	ENSP00000284476:L1315M	L	+	1	2	DISP1	221245305	0.074000	0.21230	0.148000	0.22405	0.349000	0.29174	0.348000	0.20031	1.410000	0.46936	-0.140000	0.14226	CTG		0.592	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		73	384	1	0	1.58458e-29	1	1.85199e-29	73	384				
TMEM39A	55254	broad.mit.edu	37	3	119156786	119156786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119156786G>A	ENST00000319172.5	-	6	1160	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	247			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			integral component of membrane (GO:0016021)		p.S247L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TTCTTTTAGCGACTCCAGCAA	0.483																																						ENST00000319172.5																			1	Substitution - Missense(1)	p.S247L(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(739-741)tCg>tTg		transmembrane protein 39A							81.0	79.0	80.0					3																	119156786		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119156786G>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.740C>T	3.37:g.119156786G>A	ENSP00000326063:p.Ser247Leu					TMEM39A_ENST00000486159.1_5'UTR	p.S247L	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	6	1160	-			247		S -> L (in a breast cancer sample; somatic mutation).			D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.740C>T	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967277	0.53507	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.46819	0.86	5.5	4.61	0.57282	.	0.215456	0.48767	D	0.000173	T	0.30603	0.0770	N	0.22421	0.69	0.47905	D	0.999546	P	0.51653	0.947	B	0.36808	0.233	T	0.04946	-1.0916	10	0.23302	T	0.38	-6.975	15.2941	0.73891	0.0:0.1406:0.8594:0.0	.	247	Q9NV64	TM39A_HUMAN	L	247;93	ENSP00000326063:S247L	ENSP00000326063:S247L	S	-	2	0	TMEM39A	120639476	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.825000	0.62708	1.289000	0.44618	0.650000	0.86243	TCG		0.483	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		66	248	0	0	0	1	0	66	248				
LRRC4B	94030	broad.mit.edu	37	19	51021728	51021728	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021728G>A	ENST00000599957.1	-	3	1439	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	LRRC4B_ENST00000389201.3_Silent_p.S414S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	414	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CATGCAGGACGGAGATGCGCA	0.637																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1240-1242)tcC>tcT		leucine rich repeat containing 4B							63.0	72.0	69.0					19																	51021728		2196	4278	6474	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021728G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1242C>T	19.37:g.51021728G>A						LRRC4B_ENST00000389201.3_Silent_p.S414S	p.S414S			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1439	-		all_neural(266;0.131)	414			Ig-like C2-type.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1242C>T	CCDS42595.1																																																																																				0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		11	296	0	0	0	1	0	11	296				
ALDH3A1	218	broad.mit.edu	37	17	19642967	19642967	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19642967C>T	ENST00000457500.2	-	7	1299	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000485231.1_5'Flank|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	324					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGGGGGTCCACGTCCGTGAGG	0.632																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(970-972)Gtg>Atg		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						42.0	40.0	41.0					17																	19642967		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19642967C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.970G>A	17.37:g.19642967C>T	ENSP00000411821:p.Val324Met					ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000395555.3_Intron	p.V324M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	7	1299	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		324					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.970G>A	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885704	0.91814	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.82	4.82	0.62117	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.122950	0.56097	D	0.000037	D	0.92273	0.7549	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.993	D	0.94413	0.7633	10	0.87932	D	0	-20.6296	16.9051	0.86124	0.0:1.0:0.0:0.0	.	324;441;324	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	M	324;382;324;324;251;324	ENSP00000225740:V324M;ENSP00000388469:V324M;ENSP00000411821:V324M;ENSP00000389766:V324M	ENSP00000225740:V324M	V	-	1	0	ALDH3A1	19583559	0.997000	0.39634	0.918000	0.36340	0.909000	0.53808	7.420000	0.80191	2.232000	0.73038	0.655000	0.94253	GTG		0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		26	134	0	0	0	1	0	26	134				
EFNB1	1947	broad.mit.edu	37	X	68060137	68060137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68060137C>T	ENST00000204961.4	+	5	1461	c.681C>T	c.(679-681)agC>agT	p.S227S		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	227					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGGGCAGCAGCGGGGACCCTG	0.597																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(679-681)agC>agT		ephrin-B1							52.0	54.0	53.0					X																	68060137		2203	4300	6503	SO:0001819	synonymous_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060137C>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.681C>T	X.37:g.68060137C>T							p.S227S	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			5	1461	+			227					D3DVU0	Silent	SNP	ENST00000204961.4	37	c.681C>T	CCDS14391.1																																																																																				0.597	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		41	152	0	0	0	1	0	41	152				
SPATA31C1	441452	broad.mit.edu	37	9	90535813	90535813	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90535813C>T	ENST00000602681.1	+	0	1717							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCAGGCCCAGCCCCTGTCCCA	0.567																																						ENST00000602681.1																			0																				81.0	77.0	78.0					9																	90535813		692	1591	2283			0							g.chr9:90535813C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535813C>T														0	1717	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.567	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		21	925	0	0	0	1	0	21	925				
PLCE1	51196	broad.mit.edu	37	10	96044717	96044717	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96044717T>C	ENST00000371380.3	+	21	5265	c.5030T>C	c.(5029-5031)tTt>tCt	p.F1677S	PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1677S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1677					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCAGTAAAATTTCCAGGTAAG	0.318																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5029-5031)tTt>tCt		phospholipase C, epsilon 1							61.0	54.0	56.0					10																	96044717		1798	4076	5874	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96044717T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5030T>C	10.37:g.96044717T>C	ENSP00000360431:p.Phe1677Ser					PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371380.2_Missense_Mutation_p.F1677S|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000440198.1_RNA	p.F1677S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			22	5664	+		Colorectal(252;0.0458)	1677					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.5030T>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730133	0.89390	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.255913	0.39083	N	0.001465	T	0.63438	0.2511	L	0.34521	1.04	0.54753	D	0.999987	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.997	T	0.65817	-0.6076	10	0.59425	D	0.04	.	15.6241	0.76840	0.0:0.0:0.0:1.0	.	1661;1369;1677	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1677;1677;1369;1369	ENSP00000260766:F1677S;ENSP00000360431:F1677S;ENSP00000360438:F1369S;ENSP00000360426:F1369S	ENSP00000260766:F1677S	F	+	2	0	PLCE1	96034707	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.953000	0.87836	2.178000	0.69098	0.454000	0.30748	TTT		0.318	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		47	175	0	0	0	1	0	47	175				
ZNF648	127665	broad.mit.edu	37	1	182026618	182026618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026618C>T	ENST00000339948.3	-	2	735	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTTTTGTGCGCACAGAGAT	0.567																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(526-528)gcG>gcA		zinc finger protein 648							66.0	69.0	68.0					1																	182026618		2203	4300	6503	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026618C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.528G>A	1.37:g.182026618C>T							p.A176A	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	735	-			176					B2RP16	Silent	SNP	ENST00000339948.3	37	c.528G>A	CCDS30952.1																																																																																				0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		44	208	0	0	0	1	0	44	208				
CRB1	23418	broad.mit.edu	37	1	197298117	197298117	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197298117T>C	ENST00000367400.3	+	2	771	c.636T>C	c.(634-636)tgT>tgC	p.C212C	CRB1_ENST00000535699.1_Silent_p.C143C|CRB1_ENST00000367399.2_Silent_p.C212C|CRB1_ENST00000538660.1_Silent_p.C212C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	212	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTGTATCTGTCCCCACAATT	0.418																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(634-636)tgT>tgC		crumbs homolog 1 (Drosophila)							51.0	49.0	50.0					1																	197298117		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197298117T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.636T>C	1.37:g.197298117T>C						CRB1_ENST00000538660.1_Silent_p.C212C|CRB1_ENST00000535699.1_Silent_p.C143C|CRB1_ENST00000367399.2_Silent_p.C212C	p.C212C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	771	+			212			EGF-like 5; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.636T>C	CCDS1390.1																																																																																				0.418	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		53	144	0	0	0	1	0	53	144				
CNTN2	6900	broad.mit.edu	37	1	205039089	205039089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205039089C>T	ENST00000331830.4	+	18	2615	c.2331C>T	c.(2329-2331)agC>agT	p.S777S		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCAACGAGAGCGTCCGGCCCT	0.647																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2329-2331)agC>agT		contactin 2 (axonal)							63.0	67.0	66.0					1																	205039089		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039089C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2331C>T	1.37:g.205039089C>T							p.S777S	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2615	+	all_cancers(21;0.144)|Breast(84;0.0437)		777			Fibronectin type-III 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2331C>T	CCDS1449.1																																																																																				0.647	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		187	545	0	0	0	1	0	187	545				
CDH26	60437	broad.mit.edu	37	20	58569449	58569449	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569449A>C	ENST00000244047.5	+	11	1882	c.1571A>C	c.(1570-1572)gAt>gCt	p.D524A	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.D524A|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	524					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAGGCAGAGGATCCGGACCTG	0.547																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1570-1572)gAt>gCt		cadherin 26							71.0	66.0	67.0					20																	58569449		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569449A>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1571A>C	20.37:g.58569449A>C	ENSP00000244047:p.Asp524Ala					CDH26_ENST00000244047.5_Missense_Mutation_p.D524A|CDH26_ENST00000497614.1_3'UTR	p.D524A	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1871	+	all_lung(29;0.00963)		524					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1571A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.38|17.38	3.375377|3.375377	0.61735|0.61735	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.78003|.	-1.14;-1.14|.	4.35|4.35	2.08|2.08	0.27032|0.27032	Cadherin-like (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.63581|0.63581	0.2523|0.2523	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	0.999992|0.999992	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.56074|0.56074	-0.8039|-0.8039	10|5	0.87932|.	D|.	0|.	.|.	7.9154|7.9154	0.29814|0.29814	0.8363:0.0:0.1637:0.0|0.8363:0.0:0.1637:0.0	.|.	524;524|.	Q8IXH8;Q8IXH8-4|.	CAD26_HUMAN;.|.	A|L	524|116	ENSP00000244047:D524A;ENSP00000339390:D524A|.	ENSP00000244047:D524A|.	D|I	+|+	2|1	0|0	CDH26|CDH26	58002844|58002844	0.993000|0.993000	0.37304|0.37304	0.001000|0.001000	0.08648|0.08648	0.389000|0.389000	0.30415|0.30415	3.650000|3.650000	0.54424|0.54424	0.111000|0.111000	0.17947|0.17947	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.547	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		35	234	0	0	0	1	0	35	234				
OR14K1	343170	broad.mit.edu	37	1	247902088	247902088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247902088T>C	ENST00000283225.2	+	1	172	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CATGGCAATGTACTTTTTCCT	0.478																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(172-174)Tac>Cac		olfactory receptor, family 14, subfamily K, member 1							155.0	151.0	152.0					1																	247902088		2159	4266	6425	SO:0001583	missense	343170							g.chr1:247902088T>C	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.172T>C	1.37:g.247902088T>C	ENSP00000283225:p.Tyr58His					RP11-634B7.4_ENST00000449298.1_RNA	p.Y58H							1	172	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.172T>C		.	.	.	.	.	.	.	.	.	.	T	14.79	2.640972	0.47153	.	.	ENSG00000153230	ENST00000283225	T	0.15487	2.42	3.74	3.74	0.42951	.	0.000000	0.35970	U	0.002880	T	0.25269	0.0614	.	.	.	0.27818	N	0.941887	.	.	.	.	.	.	T	0.05599	-1.0875	7	0.72032	D	0.01	.	11.368	0.49684	0.0:0.0:0.0:1.0	.	.	.	.	H	58	ENSP00000283225:Y58H	ENSP00000283225:Y58H	Y	+	1	0	OR14K1	245968711	1.000000	0.71417	0.995000	0.50966	0.248000	0.25809	4.229000	0.58625	1.525000	0.49052	0.496000	0.49642	TAC		0.478	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		108	324	0	0	0	1	0	108	324				
APC2	10297	broad.mit.edu	37	19	1467872	1467872	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467872G>A	ENST00000535453.1	+	14	6285	c.4572G>A	c.(4570-4572)acG>acA	p.T1524T	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.T1250T|APC2_ENST00000233607.2_Silent_p.T1524T			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCGCCCACGCCAACCCACC	0.721																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(4570-4572)acG>acA		adenomatosis polyposis coli 2							5.0	7.0	7.0					19																	1467872		1924	3898	5822	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1467872G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4572G>A	19.37:g.1467872G>A						C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.T1524T|APC2_ENST00000238483.4_Silent_p.T1250T	p.T1524T			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	6285	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1524			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.4572G>A	CCDS12068.1																																																																																				0.721	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		20	81	0	0	0	1	0	20	81				
KLHL11	55175	broad.mit.edu	37	17	40010534	40010534	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40010534T>C	ENST00000319121.3	-	2	1645	c.1585A>G	c.(1585-1587)Aca>Gca	p.T529A	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	529										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGAGTCTCTGTATCATAGCAA	0.438																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1585-1587)Aca>Gca		kelch-like family member 11							93.0	85.0	88.0					17																	40010534		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010534T>C		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1585A>G	17.37:g.40010534T>C	ENSP00000314608:p.Thr529Ala						p.T529A	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	1645	-		Breast(137;0.00156)	529						Missense_Mutation	SNP	ENST00000319121.3	37	c.1585A>G	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	0.323	-0.961002	0.02249	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.66638	-0.22	5.26	4.18	0.49190	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.29908	0.895	0.45946	D	0.998776	B	0.15473	0.013	B	0.12156	0.007	T	0.44757	-0.9307	10	0.40728	T	0.16	-0.0634	9.0051	0.36106	0.0:0.2059:0.0:0.7941	.	529	Q9NVR0	KLH11_HUMAN	A	529;392	ENSP00000314608:T529A	ENSP00000314608:T529A	T	-	1	0	KLHL11	37264060	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	3.133000	0.50531	0.942000	0.37525	0.477000	0.44152	ACA		0.438	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		95	375	0	0	0	1	0	95	375				
RP1L1	94137	broad.mit.edu	37	8	10465626	10465626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10465626C>A	ENST00000382483.3	-	4	6205	c.5982G>T	c.(5980-5982)caG>caT	p.Q1994H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2074	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCCC	0.602																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5980-5982)caG>caT		retinitis pigmentosa 1-like 1							173.0	189.0	184.0					8																	10465626		1981	4157	6138	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465626C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5982G>T	8.37:g.10465626C>A	ENSP00000371923:p.Gln1994His						p.Q1994H	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6205	-			1994					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5982G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.483	0.649002	0.14516	.	.	ENSG00000183638	ENST00000382483	T	0.04970	3.52	1.24	1.24	0.21308	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.50570	0.644	T	0.38134	-0.9675	9	0.56958	D	0.05	.	5.0404	0.14456	0.0:0.7812:0.0:0.2188	.	1994	A6NKC6	.	H	1994	ENSP00000371923:Q1994H	ENSP00000371923:Q1994H	Q	-	3	2	RP1L1	10503036	0.059000	0.20769	0.136000	0.22124	0.274000	0.26718	0.878000	0.28126	0.535000	0.28714	0.305000	0.20034	CAG		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			340	1490	1	0	1.6594e-83	1	2.12483e-83	340	1490				
LPHN3	23284	broad.mit.edu	37	4	62599163	62599163	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62599163G>A	ENST00000514591.1	+	7	1415	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000512091.2_Silent_p.Q362Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	362	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTCATACCAGTACATTGCAG	0.393																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1084-1086)caG>caA		latrophilin 3							104.0	92.0	96.0					4																	62599163		1921	4131	6052	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599163G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1086G>A	4.37:g.62599163G>A						LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q|LPHN3_ENST00000514591.1_Silent_p.Q362Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q	p.Q362Q			Q9HAR2	LPHN3_HUMAN			7	1833	+			362			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1086G>A	CCDS54768.1																																																																																				0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			26	138	0	0	0	1	0	26	138				
GGCX	2677	broad.mit.edu	37	2	85780133	85780133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85780133G>A	ENST00000233838.4	-	9	1296	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	GGCX_ENST00000430215.3_Missense_Mutation_p.R349C|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	406					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)	TGGTGGGAGCGGGAGTGCACC	0.542																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1216-1218)Cgc>Tgc		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						187.0	164.0	172.0					2																	85780133		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85780133G>A		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.1216C>T	2.37:g.85780133G>A	ENSP00000233838:p.Arg406Cys					GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R349C	p.R406C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			9	1296	-			406					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1216C>T	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359350	0.82353	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.93488	-3.23;-3.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.76071	0.987;0.905;0.964	D	0.96178	0.9128	10	0.56958	D	0.05	-17.0852	16.974	0.86309	0.0:0.0:1.0:0.0	.	349;245;406	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	406;349	ENSP00000233838:R406C;ENSP00000408045:R349C	ENSP00000233838:R406C	R	-	1	0	GGCX	85633644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.033000	0.93741	2.601000	0.87937	0.655000	0.94253	CGC		0.542	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		99	538	0	0	0	1	0	99	538				
PCDHB5	26167	broad.mit.edu	37	5	140517233	140517233	+	Silent	SNP	C	C	T	rs150150212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517233C>T	ENST00000231134.5	+	1	2434	c.2217C>T	c.(2215-2217)agC>agT	p.S739S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	739					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGTGAGCGGCACCGGGA	0.642																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2215-2217)agC>agT				C		0,4406		0,0,2203	88.0	107.0	101.0		2217	0.0	0.1	5	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PCDHB5	NM_015669.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		739/796	140517233	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517233C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2217C>T	5.37:g.140517233C>T							p.S739S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2434	+			739					Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.2217C>T	CCDS4247.1																																																																																				0.642	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		203	1099	0	0	0	1	0	203	1099				
TRPV3	162514	broad.mit.edu	37	17	3430170	3430170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3430170C>T	ENST00000576742.1	-	12	1876	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TRPV3_ENST00000301365.4_Missense_Mutation_p.D519N|TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	519					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AACCAGGCATCCGAGAGGATG	0.572																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1555-1557)Gat>Aat		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						147.0	89.0	109.0					17																	3430170		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3430170C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1555G>A	17.37:g.3430170C>T	ENSP00000461518:p.Asp519Asn					TRPV3_ENST00000576742.1_Missense_Mutation_p.D519N|TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N	p.D519N			Q8NET8	TRPV3_HUMAN			12	1686	-			519					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1555G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	33	5.217613	0.95104	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.98717	-5.09	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	D	0.98416	0.9473	L	0.33189	0.99	0.44352	D	0.997246	D;P;D;D;D;D;D;D	0.89917	1.0;0.607;0.975;1.0;0.975;0.996;0.999;0.998	D;B;P;D;D;D;D;D	0.91635	0.998;0.12;0.893;0.999;0.919;0.993;0.997;0.995	D	0.99914	1.1215	10	0.72032	D	0.01	-9.1066	17.5751	0.87946	0.0:1.0:0.0:0.0	.	101;503;503;519;503;519;519;519	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	N	519;519;503	ENSP00000301365:D519N	ENSP00000301365:D519N	D	-	1	0	TRPV3	3376920	0.999000	0.42202	0.950000	0.38849	0.968000	0.65278	5.187000	0.65087	2.482000	0.83794	0.638000	0.83543	GAT		0.572	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		19	65	0	0	0	1	0	19	65				
MICAL3	57553	broad.mit.edu	37	22	18387407	18387407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18387407C>T	ENST00000441493.2	-	3	815	c.463G>A	c.(463-465)Gac>Aac	p.D155N	MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	155	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGATATGGTCGATGGCTCCA	0.478																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(463-465)Gac>Aac		microtubule associated monooxygenase, calponin and LIM domain containing 3							208.0	188.0	194.0					22																	18387407		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18387407C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.463G>A	22.37:g.18387407C>T	ENSP00000416015:p.Asp155Asn					MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N	p.D155N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	3	815	-		all_epithelial(15;0.198)	155					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.463G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808007	0.96967	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.989;1.0;0.999	D;D;P;D;D	0.91635	0.999;0.962;0.753;0.994;0.973	T	0.00529	-1.1687	10	0.66056	D	0.02	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	155;155;155;155;155	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	N	155	ENSP00000416015:D155N;ENSP00000414846:D155N;ENSP00000383406:D155N;ENSP00000410315:D155N;ENSP00000391827:D155N;ENSP00000372574:D155N;ENSP00000207726:D155N	ENSP00000207726:D155N	D	-	1	0	XXbac-B461K10.4;MICAL3	16767407	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	GAC		0.478	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			129	606	0	0	0	1	0	129	606				
STAM	8027	broad.mit.edu	37	10	17747711	17747711	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17747711A>G	ENST00000377524.3	+	12	1395	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	STAM_ENST00000540523.1_Missense_Mutation_p.M283V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	394					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCATATTATATGCAGTCATC	0.393																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1180-1182)Atg>Gtg		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							162.0	158.0	159.0					10																	17747711		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17747711A>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1180A>G	10.37:g.17747711A>G	ENSP00000366746:p.Met394Val					STAM_ENST00000540523.1_Missense_Mutation_p.M283V	p.M394V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			12	1395	+			394					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.1180A>G	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	A	4.536	0.099491	0.08681	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.38560	1.44;1.13	5.73	0.684	0.18003	.	0.190228	0.64402	N	0.000004	T	0.31136	0.0787	L	0.56769	1.78	0.43593	D	0.995943	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08764	-1.0706	10	0.17832	T	0.49	-0.7655	5.9925	0.19474	0.664:0.1263:0.2097:0.0	.	283;394	B4DZT2;Q92783	.;STAM1_HUMAN	V	394;283	ENSP00000366746:M394V;ENSP00000438073:M283V	ENSP00000366746:M394V	M	+	1	0	STAM	17787717	0.988000	0.35896	0.958000	0.39756	0.898000	0.52572	2.453000	0.44970	-0.115000	0.11915	0.533000	0.62120	ATG		0.393	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		116	575	0	0	0	1	0	116	575				
PRR12	57479	broad.mit.edu	37	19	50098142	50098142	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098142T>C	ENST00000418929.2	+	4	562	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGCTCCTGTCCCCTCATGA	0.682																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(550-552)Tcc>Ccc		proline rich 12							25.0	28.0	27.0					19																	50098142		1964	4142	6106	SO:0001583	missense	57479						DNA binding	g.chr19:50098142T>C	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.550T>C	19.37:g.50098142T>C	ENSP00000394510:p.Ser184Pro						p.S184P	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	562	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	596			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.550T>C	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908427	0.33721	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.77751	0.4177	.	.	.	0.36605	D	0.874868	D	0.76494	0.999	D	0.83275	0.996	D	0.83942	0.0312	7	0.72032	D	0.01	.	12.3339	0.55056	0.0:0.0:0.0:1.0	.	184	Q9ULL5-3	.	P	184	.	ENSP00000394510:S184P	S	+	1	0	PRR12	54789954	0.873000	0.30073	1.000000	0.80357	0.794000	0.44872	1.874000	0.39568	1.827000	0.53221	0.460000	0.39030	TCC		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		23	73	0	0	0	1	0	23	73				
TMEM225	338661	broad.mit.edu	37	11	123754818	123754818	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754818T>G	ENST00000375026.2	-	3	643	c.427A>C	c.(427-429)Act>Cct	p.T143P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	143					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAGTAAGCAGTATACATGATC	0.453																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(427-429)Act>Cct		transmembrane protein 225							127.0	119.0	122.0					11																	123754818		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123754818T>G	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.427A>C	11.37:g.123754818T>G	ENSP00000364166:p.Thr143Pro						p.T143P	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			3	643	-			143						Missense_Mutation	SNP	ENST00000375026.2	37	c.427A>C	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375561	0.42105	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69175	-0.38;-0.38	4.74	-0.839	0.10759	.	0.487163	0.17515	N	0.171460	T	0.62720	0.2451	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.67382	0.951	T	0.52215	-0.8605	10	0.62326	D	0.03	-1.9637	2.6171	0.04907	0.3711:0.2056:0.0:0.4233	.	143	Q6GV28	TM225_HUMAN	P	143;93	ENSP00000364166:T143P;ENSP00000431282:T93P	ENSP00000364166:T143P	T	-	1	0	TMEM225	123260028	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	0.004000	0.14682	-0.263000	0.10527	ACT		0.453	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		87	347	0	0	0	1	0	87	347				
CDH11	1009	broad.mit.edu	37	16	64981786	64981786	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:64981786G>T	ENST00000268603.4	-	13	2726	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	CDH11_ENST00000566827.1_Missense_Mutation_p.P578H|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	704					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCAGGTCTAGGCATGTACTG	0.512			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000268603.4				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(2110-2112)cCt>cAt		cadherin 11, type 2, OB-cadherin (osteoblast)							131.0	123.0	126.0					16																	64981786		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981786G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2111C>A	16.37:g.64981786G>T	ENSP00000268603:p.Pro704His	TSP Lung(24;0.17)				CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.P578H	p.P704H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2726	-		Ovarian(137;0.0973)	704					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.2111C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215385	0.58452	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.78816	-1.21	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.197764	0.53938	D	0.000052	D	0.86772	0.6013	M	0.66939	2.045	0.53688	D	0.99997	D	0.67145	0.996	D	0.67231	0.95	T	0.83101	-0.0128	10	0.31617	T	0.26	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	704	P55287	CAD11_HUMAN	H	704;687	ENSP00000268603:P704H	ENSP00000268603:P704H	P	-	2	0	CDH11	63539287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.063000	0.76714	2.941000	0.99782	0.655000	0.94253	CCT		0.512	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		26	623	1	0	2.79863e-10	1	2.965e-10	26	623				
AXDND1	126859	broad.mit.edu	37	1	179414170	179414170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179414170G>T	ENST00000367618.3	+	16	2016	c.1629G>T	c.(1627-1629)aaG>aaT	p.K543N	AXDND1_ENST00000457238.2_Missense_Mutation_p.K543N|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	543										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATACTCTCAAGATTATTAAAC	0.393																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1627-1629)aaG>aaT		axonemal dynein light chain domain containing 1							93.0	99.0	97.0					1																	179414170		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179414170G>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1629G>T	1.37:g.179414170G>T	ENSP00000356590:p.Lys543Asn					AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.K543N	p.K543N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			16	2016	+			543					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1629G>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423516	0.43020	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.47869	2.12;0.83;2.14	5.65	3.76	0.43208	.	0.221447	0.47852	D	0.000213	T	0.37210	0.0995	L	0.43152	1.355	0.27449	N	0.953484	B;B;B	0.25719	0.132;0.02;0.047	B;B;B	0.22386	0.017;0.012;0.039	T	0.34129	-0.9841	10	0.59425	D	0.04	-12.5854	8.0527	0.30587	0.189:0.0:0.811:0.0	.	501;543;543	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	N	543;501;543;477	ENSP00000356590:K543N;ENSP00000416712:K543N;ENSP00000391716:K477N	ENSP00000353471:K501N	K	+	3	2	AXDND1	177680793	1.000000	0.71417	0.972000	0.41901	0.951000	0.60555	1.968000	0.40500	0.834000	0.34852	0.549000	0.68633	AAG		0.393	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		153	456	1	0	1.19538e-77	1	1.52632e-77	153	456				
ZKSCAN2	342357	broad.mit.edu	37	16	25251415	25251415	+	Missense_Mutation	SNP	C	C	T	rs146263630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251415C>T	ENST00000328086.7	-	7	3429	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	876					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCCGGTGGGCGCTGAAATGA	0.453																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2626-2628)Gcc>Acc		zinc finger with KRAB and SCAN domains 2		C	THR/ALA	1,4393	2.1+/-5.4	0,1,2196	85.0	79.0	81.0		2626	4.7	1.0	16	dbSNP_134	81	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZKSCAN2	NM_001012981.4	58	0,7,6490	TT,TC,CC		0.0698,0.0228,0.0539	probably-damaging	876/968	25251415	7,12987	2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251415C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2626G>A	16.37:g.25251415C>T	ENSP00000331626:p.Ala876Thr						p.A876T	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3429	-			876					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2626G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425613	0.25639	2.28E-4	6.98E-4	ENSG00000155592	ENST00000328086	T	0.18174	2.23	5.64	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.304622	0.28853	N	0.013939	T	0.06826	0.0174	N	0.04805	-0.155	0.29489	N	0.855764	B;B	0.23591	0.088;0.043	B;B	0.12837	0.008;0.006	T	0.24012	-1.0172	10	0.17832	T	0.49	-4.8782	6.3209	0.21217	0.0:0.7123:0.1851:0.1026	.	672;876	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	876	ENSP00000331626:A876T	ENSP00000331626:A876T	A	-	1	0	ZKSCAN2	25158916	0.000000	0.05858	0.998000	0.56505	0.465000	0.32709	-0.883000	0.04170	1.534000	0.49203	0.650000	0.86243	GCC		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		87	292	0	0	0	1	0	87	292				
HBS1L	10767	broad.mit.edu	37	6	135306532	135306532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135306532G>T	ENST00000367837.5	-	12	1645	c.1439C>A	c.(1438-1440)cCc>cAc	p.P480H	HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H|HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H|HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	480	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGATCGCTGGGGAGGCTTAAA	0.353																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1438-1440)cCc>cAc		HBS1-like (S. cerevisiae)							138.0	142.0	141.0					6																	135306532		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135306532G>T	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1439C>A	6.37:g.135306532G>T	ENSP00000356811:p.Pro480His					HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H|HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H|HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H	p.P480H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	12	1645	-	Colorectal(23;0.221)		480					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1439C>A	CCDS5173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776545|4.776545	0.90195|0.90195	.|.	.|.	ENSG00000112339|ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176|ENST00000529169	T;T;T;T;T;T;T|T	0.53423|0.52526	0.62;0.62;0.62;0.62;0.62;0.62;0.62|0.66	5.79|5.79	5.79|5.79	0.91817|0.91817	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77980|0.77980	0.4212|0.4212	H|H	0.96111|0.96111	3.77|3.77	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84490|0.84490	0.0610|0.0610	10|8	0.87932|0.87932	D|D	0|0	-26.0245|-26.0245	20.0371|20.0371	0.97565|0.97565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	438;480|.	Q9Y450-4;Q9Y450|.	.;HBS1L_HUMAN|.	H|T	480;316;415;438;316;350;204|104	ENSP00000356811:P480H;ENSP00000436256:P316H;ENSP00000389826:P415H;ENSP00000356800:P438H;ENSP00000356798:P316H;ENSP00000434533:P350H;ENSP00000415305:P204H|ENSP00000436472:P104T	ENSP00000356798:P316H|ENSP00000436472:P104T	P|P	-|-	2|1	0|0	HBS1L|HBS1L	135348225|135348225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.190000|7.190000	0.77755|0.77755	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.353	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			22	619	1	0	1.10513e-12	1	1.18868e-12	22	619				
DOLK	22845	broad.mit.edu	37	9	131709434	131709434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131709434G>A	ENST00000372586.3	-	1	464	c.149C>T	c.(148-150)gCa>gTa	p.A50V	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	50					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGCCTGCACTGCGAGGGCCAC	0.607																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(148-150)gCa>gTa		dolichol kinase							77.0	74.0	75.0					9																	131709434		2203	4300	6503	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709434G>A	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.149C>T	9.37:g.131709434G>A	ENSP00000361667:p.Ala50Val					RP11-101E3.5_ENST00000482796.1_Intron	p.A50V	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	464	-			50					Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.149C>T	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716977	0.68844	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84070	-1.8	5.64	5.64	0.86602	.	0.169585	0.39544	N	0.001340	D	0.85340	0.5674	L	0.51422	1.61	0.58432	D	0.99999	P	0.49961	0.93	P	0.50440	0.641	D	0.86253	0.1650	10	0.62326	D	0.03	-12.3049	18.7019	0.91623	0.0:0.0:1.0:0.0	.	50	Q9UPQ8	DOLK_HUMAN	V	50	ENSP00000361667:A50V	ENSP00000361667:A50V	A	-	2	0	DOLK	130749255	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.601000	0.82783	2.655000	0.90218	0.462000	0.41574	GCA		0.607	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		75	260	0	0	0	1	0	75	260				
SLCO4C1	353189	broad.mit.edu	37	5	101631905	101631905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101631905C>T	ENST00000310954.6	-	1	348	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGACAAGCGGCGCAGGATGTC	0.572																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(61-63)cGc>cAc		solute carrier organic anion transporter family, member 4C1							71.0	80.0	77.0					5																	101631905		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101631905C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.62G>A	5.37:g.101631905C>T	ENSP00000309741:p.Arg21His						p.R21H	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	1	348	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	21						Missense_Mutation	SNP	ENST00000310954.6	37	c.62G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	7.900	0.734184	0.15574	.	.	ENSG00000173930	ENST00000310954	T	0.46451	0.87	4.11	2.32	0.28847	.	2.458350	0.01476	N	0.016471	T	0.35970	0.0950	L	0.42245	1.32	0.21386	N	0.999706	B	0.29432	0.244	B	0.18561	0.022	T	0.19031	-1.0318	10	0.48119	T	0.1	.	6.0552	0.19807	0.0:0.7624:0.0:0.2376	.	21	Q6ZQN7	SO4C1_HUMAN	H	21	ENSP00000309741:R21H	ENSP00000309741:R21H	R	-	2	0	SLCO4C1	101659804	0.640000	0.27243	0.793000	0.32043	0.076000	0.17211	0.117000	0.15583	0.379000	0.24794	0.591000	0.81541	CGC		0.572	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		60	273	0	0	0	1	0	60	273				
LRRTM1	347730	broad.mit.edu	37	2	80530750	80530750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530750G>A	ENST00000295057.3	-	2	851	c.195C>T	c.(193-195)tcC>tcT	p.S65S	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	65					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCAGCAGGCCGGACAGGTTGT	0.692										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(193-195)tcC>tcT		leucine rich repeat transmembrane neuronal 1							34.0	39.0	37.0					2																	80530750		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530750G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.195C>T	2.37:g.80530750G>A		HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000402739.4_Intron	p.S65S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	851	-			65			LRRNT.		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.195C>T	CCDS1966.1																																																																																				0.692	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		117	313	0	0	0	1	0	117	313				
SATB2	23314	broad.mit.edu	37	2	200137033	200137033	+	Silent	SNP	G	G	A	rs529621505		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137033G>A	ENST00000417098.1	-	11	2919	c.2103C>T	c.(2101-2103)aaC>aaT	p.N701N	SATB2_ENST00000443023.1_Silent_p.N642N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N|SATB2_ENST00000260926.5_Silent_p.N701N	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	701					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCGCTGTCGTTCTCCTCTG	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16755	0.0		0.0	False		,,,				2504	0.0				Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1924-1926)aaC>aaT		SATB homeobox 2							128.0	117.0	121.0					2																	200137033		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137033G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2103C>T	2.37:g.200137033G>A						SATB2_ENST00000260926.5_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000417098.1_Silent_p.N701N	p.N642N			Q9UPW6	SATB2_HUMAN			10	3391	-			701					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1926C>T	CCDS2327.1																																																																																				0.552	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		115	494	0	0	0	1	0	115	494				
MUC6	4588	broad.mit.edu	37	11	1016635	1016635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016635C>T	ENST00000421673.2	-	31	6216	c.6166G>A	c.(6166-6168)Ggg>Agg	p.G2056R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2056	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGTGGACCCTGTGGCCTTG	0.562																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6166-6168)Ggg>Agg		mucin 6, oligomeric mucus/gel-forming							416.0	409.0	411.0					11																	1016635		2198	4289	6487	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016635C>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6166G>A	11.37:g.1016635C>T	ENSP00000406861:p.Gly2056Arg						p.G2056R	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6216	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2056			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6166G>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465744	0.26335	.	.	ENSG00000184956	ENST00000421673	T	0.13538	2.58	1.89	-3.77	0.04346	.	.	.	.	.	T	0.06554	0.0168	L	0.31065	0.9	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42865	-0.9426	9	0.13108	T	0.6	.	1.6345	0.02739	0.139:0.3568:0.2942:0.2101	.	2056	Q6W4X9	MUC6_HUMAN	R	2056	ENSP00000406861:G2056R	ENSP00000406861:G2056R	G	-	1	0	MUC6	1006635	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.329000	0.07935	-1.867000	0.01144	0.313000	0.20887	GGG		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		59	2695	0	0	0	1	0	59	2695				
FASTKD3	79072	broad.mit.edu	37	5	7861322	7861322	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7861322T>C	ENST00000264669.5	-	6	1960	c.1824A>G	c.(1822-1824)ttA>ttG	p.L608L	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	608	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTCCCCAGTAAGTGTTTGC	0.328																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1822-1824)ttA>ttG		FAST kinase domains 3							136.0	135.0	135.0					5																	7861322		2203	4300	6503	SO:0001819	synonymous_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7861322T>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1824A>G	5.37:g.7861322T>C						MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	p.L608L	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			6	1960	-			608			RAP.		Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.1824A>G	CCDS3873.1																																																																																				0.328	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		104	459	0	0	0	1	0	104	459				
MEGF8	1954	broad.mit.edu	37	19	42863068	42863068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42863068G>T	ENST00000251268.6	+	30	5305	c.5305G>T	c.(5305-5307)Gga>Tga	p.G1769*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.G1702*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1769					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCTGGTACAGGAGGTTTCCT	0.572																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5104-5106)Gga>Tga		multiple EGF-like-domains 8							49.0	48.0	48.0					19																	42863068		2203	4299	6502	SO:0001587	stop_gained	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42863068G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5305G>T	19.37:g.42863068G>T	ENSP00000251268:p.Gly1769*					MEGF8_ENST00000251268.6_Nonsense_Mutation_p.G1769*	p.G1702*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			29	5739	+		Prostate(69;0.00682)	1769					A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	37	c.5104G>T		.	.	.	.	.	.	.	.	.	.	G	47	13.094293	0.99719	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	3.39	-0.167	0.13347	.	0.675623	0.12162	N	0.493866	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.0309	2.5615	0.04773	0.276:0.0:0.4938:0.2302	.	.	.	.	X	1702;1769	.	ENSP00000251268:G1769X	G	+	1	0	MEGF8	47554908	0.001000	0.12720	0.002000	0.10522	0.184000	0.23303	0.106000	0.15354	-0.048000	0.13401	0.462000	0.41574	GGA		0.572	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		20	81	1	0	3.5997e-14	1	3.90403e-14	20	81				
FAT1	2195	broad.mit.edu	37	4	187539828	187539828	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539828C>A	ENST00000441802.2	-	10	8121	c.7912G>T	c.(7912-7914)Gac>Tac	p.D2638Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2638	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTTCAGAGTCTGCTTCAATG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7912-7914)Gac>Tac		FAT atypical cadherin 1							56.0	52.0	53.0					4																	187539828		1903	4125	6028	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539828C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7912G>T	4.37:g.187539828C>A	ENSP00000406229:p.Asp2638Tyr	HNSCC(5;0.00058)					p.D2638Y	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8121	-			2638			Cadherin 24.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7912G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325419	0.60743	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53857	0.6	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.198717	0.52532	D	0.000070	T	0.66742	0.2820	L	0.60845	1.875	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	T	0.67086	-0.5759	10	0.59425	D	0.04	.	14.8514	0.70300	0.0:0.8568:0.1432:0.0	.	2638	Q14517	FAT1_HUMAN	Y	2638;2640	ENSP00000406229:D2638Y	ENSP00000260147:D2640Y	D	-	1	0	FAT1	187776822	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	5.848000	0.69458	2.861000	0.98227	0.655000	0.94253	GAC		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	173	1	0	0.0293803	1	0.0294705	6	173				
FAM84A	151354	broad.mit.edu	37	2	14774877	14774877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774877G>A	ENST00000295092.2	+	2	1062	c.774G>A	c.(772-774)agG>agA	p.R258R	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Silent_p.R258R	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACACCGCCAGGTTTCACAGCC	0.657																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(772-774)agG>agA		family with sequence similarity 84, member A							38.0	38.0	38.0					2																	14774877		2203	4300	6503	SO:0001819	synonymous_variant	151354							g.chr2:14774877G>A	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.774G>A	2.37:g.14774877G>A						FAM84A_ENST00000331243.4_Silent_p.R258R	p.R258R	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	1062	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		258					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Silent	SNP	ENST00000295092.2	37	c.774G>A	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.49|10.49	1.364511|1.364511	0.24684|0.24684	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000359969	.|.	.|.	.|.	4.14|4.14	1.01|1.01	0.19927|0.19927	.|.	.|0.561393	.|0.18805	.|N	.|0.130682	.|T	.|0.48519	.|0.1504	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19224	.|-1.0312	.|6	.|0.10377	.|T	.|0.69	.|-3.1899	13.8597|13.8597	0.63552|0.63552	0.0:0.4444:0.5556:0.0|0.0:0.4444:0.5556:0.0	.|.	.|.	.|.	.|.	.|D	-1|203	.|.	.|ENSP00000353054:G203D	.|G	+|+	.|2	.|0	FAM84A|FAM84A	14692328|14692328	0.982000|0.982000	0.34865|0.34865	0.964000|0.964000	0.40570|0.40570	0.994000|0.994000	0.84299|0.84299	0.211000|0.211000	0.17474|0.17474	0.073000|0.073000	0.16731|0.16731	0.455000|0.455000	0.32223|0.32223	.|GGT		0.657	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		58	133	0	0	0	1	0	58	133				
UBASH3A	53347	broad.mit.edu	37	21	43846890	43846890	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43846890A>G	ENST00000319294.6	+	8	1162	c.1131A>G	c.(1129-1131)ccA>ccG	p.P377P	UBASH3A_ENST00000291535.6_Silent_p.P339P|UBASH3A_ENST00000398367.1_Silent_p.P339P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	377					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AATTTCTTCCACAAACGGCAA	0.448																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1129-1131)ccA>ccG		ubiquitin associated and SH3 domain containing A							115.0	102.0	106.0					21																	43846890		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43846890A>G	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1131A>G	21.37:g.43846890A>G						UBASH3A_ENST00000398367.1_Silent_p.P339P|UBASH3A_ENST00000291535.6_Silent_p.P339P	p.P377P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			8	1162	+			377					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1131A>G	CCDS13687.1																																																																																				0.448	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		78	282	0	0	0	1	0	78	282				
DPPA2	151871	broad.mit.edu	37	3	109026937	109026937	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:109026937C>A	ENST00000478945.1	-	6	846	c.600G>T	c.(598-600)aaG>aaT	p.K200N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	200					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.K200K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTCAAAGCCTTAGGCTGAA	0.463																																						ENST00000478945.1																			1	Substitution - coding silent(1)	p.K200K(1)	ovary(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.(598-600)aaG>aaT		developmental pluripotency associated 2							112.0	102.0	105.0					3																	109026937		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109026937C>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.600G>T	3.37:g.109026937C>A	ENSP00000417710:p.Lys200Asn						p.K200N	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			6	846	-			200					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.600G>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502876	0.44558	.	.	ENSG00000163530	ENST00000478945	T	0.58358	0.34	4.43	2.29	0.28610	.	0.205916	0.34460	N	0.003947	T	0.58278	0.2111	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	D	0.63793	0.918	T	0.47586	-0.9106	10	0.66056	D	0.02	-10.1475	4.4885	0.11801	0.0:0.6333:0.2128:0.1539	.	200	Q7Z7J5	DPPA2_HUMAN	N	200	ENSP00000417710:K200N	ENSP00000417710:K200N	K	-	3	2	DPPA2	110509627	0.000000	0.05858	0.013000	0.15412	0.163000	0.22366	0.097000	0.15168	0.589000	0.29677	0.555000	0.69702	AAG		0.463	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		63	263	1	0	3.8688e-20	1	4.32843e-20	63	263				
MFHAS1	9258	broad.mit.edu	37	8	8654933	8654933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8654933G>A	ENST00000276282.6	-	2	3653	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1023										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATTTACTCGCTCGCTGCCG	0.572																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(3067-3069)Cga>Tga		malignant fibrous histiocytoma amplified sequence 1							124.0	94.0	104.0					8																	8654933		2203	4300	6503	SO:0001587	stop_gained	9258							g.chr8:8654933G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.3067C>T	8.37:g.8654933G>A	ENSP00000276282:p.Arg1023*					MFHAS1_ENST00000520091.1_5'UTR	p.R1023*	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	2	3653	-		Hepatocellular(245;0.217)	1023					Q96CI0	Nonsense_Mutation	SNP	ENST00000276282.6	37	c.3067C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	47	13.657551	0.99755	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.73	3.86	0.44501	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	14.1014	0.65059	0.0:0.0:0.7402:0.2598	.	.	.	.	X	1023	.	ENSP00000276282:R1023X	R	-	1	2	MFHAS1	8692343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.290000	0.78711	0.705000	0.31890	0.551000	0.68910	CGA		0.572	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		37	177	0	0	0	1	0	37	177				
TNNI2	7136	broad.mit.edu	37	11	1862070	1862070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862070G>A	ENST00000381906.1	+	6	277	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T|TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	70					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCTGCACGCCAAGATCGA	0.677																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(208-210)Gcc>Acc		troponin I type 2 (skeletal, fast)							62.0	52.0	56.0					11																	1862070		2199	4297	6496	SO:0001583	missense	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862070G>A	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.208G>A	11.37:g.1862070G>A	ENSP00000371331:p.Ala70Thr					TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T|TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T	p.A70T	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	6	277	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	70					A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	c.208G>A	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	11.26	1.585488	0.28268	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	2.67	2.67	0.31697	.	0.393040	0.28176	N	0.016318	D	0.94535	0.8240	M	0.62016	1.91	0.36625	D	0.875959	D;P	0.76494	0.999;0.858	D;B	0.75484	0.986;0.107	D	0.95585	0.8650	10	0.48119	T	0.1	-2.6848	14.4828	0.67594	0.0:0.0:1.0:0.0	.	70;70	A6NIV8;P48788	.;TNNI2_HUMAN	T	70	ENSP00000371336:A70T;ENSP00000371331:A70T;ENSP00000252898:A70T;ENSP00000371330:A70T	ENSP00000252898:A70T	A	+	1	0	TNNI2	1818646	0.010000	0.17322	0.999000	0.59377	0.339000	0.28857	0.353000	0.20130	1.812000	0.52913	0.205000	0.17691	GCC		0.677	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		6	116	0	0	0	1	0	6	116				
TPPP3	51673	broad.mit.edu	37	16	67424128	67424128	+	Silent	SNP	G	G	A	rs150292483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67424128G>A	ENST00000564104.1	-	3	1321	c.480C>T	c.(478-480)taC>taT	p.Y160Y	RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000393957.2_Silent_p.Y160Y|TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	160					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGGCGCTCACGTAGCCACTGT	0.622																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(478-480)taC>taT		tubulin polymerization-promoting protein family member 3			,	0,4396		0,0,2198	113.0	88.0	97.0		480,480	-3.5	1.0	16	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TPPP3	NM_015964.2,NM_016140.2	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	160/177,160/177	67424128	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424128G>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.480C>T	16.37:g.67424128G>A						TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y|TPPP3_ENST00000393957.2_Silent_p.Y160Y	p.Y160Y			Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	3	1321	-		Ovarian(137;0.0563)	160					Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	c.480C>T	CCDS10835.1																																																																																				0.622	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		39	356	0	0	0	1	0	39	356				
KRTAP19-8	728299	broad.mit.edu	37	21	32410635	32410635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32410635C>T	ENST00000382822.2	-	1	160	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	43						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						GAATCCATAGCCTCCGTAGCC	0.532																																						ENST00000382822.2																			0				endometrium(2)|upper_aerodigestive_tract(1)	3						c.(127-129)gGc>gAc		keratin associated protein 19-8							90.0	109.0	103.0					21																	32410635		2203	4300	6503	SO:0001583	missense	728299					intermediate filament		g.chr21:32410635C>T	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"""Keratin associated proteins"""	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.128G>A	21.37:g.32410635C>T	ENSP00000372272:p.Gly43Asp						p.G43D	NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN			1	160	-			43						Missense_Mutation	SNP	ENST00000382822.2	37	c.128G>A	CCDS42917.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296427	0.23650	.	.	ENSG00000206102	ENST00000382822	T	0.21031	2.03	4.05	3.14	0.36123	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.20563	N	0.999883	D	0.71674	0.998	D	0.65573	0.936	T	0.10337	-1.0634	8	0.87932	D	0	.	6.9701	0.24644	0.0:0.8686:0.0:0.1314	.	43	Q3LI54	KR198_HUMAN	D	43	ENSP00000372272:G43D	ENSP00000372272:G43D	G	-	2	0	KRTAP19-8	31332506	0.002000	0.14202	0.432000	0.26747	0.146000	0.21551	-0.033000	0.12246	1.009000	0.39289	0.505000	0.49811	GGC		0.532	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		75	733	0	0	0	1	0	75	733				
CTBP2	1488	broad.mit.edu	37	10	126715800	126715800	+	Intron	SNP	G	G	A	rs561396108	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126715800G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.R177W	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGTGTCTGCCGCCCCTGAGGG	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		16704	0.0		0.0	False		,,,				2504	0.002					ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(529-531)Cgg>Tgg		C-terminal binding protein 2							31.0	33.0	33.0					10																	126715800		2202	4300	6502	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715800G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11765C>T	10.37:g.126715800G>A						CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron	p.R177W	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	659	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.529C>T	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029432	0.54790	.	.	ENSG00000175029	ENST00000309035	D	0.83075	-1.68	4.3	4.3	0.51218	.	0.432624	0.19969	N	0.102040	T	0.82157	0.4976	.	.	.	0.80722	D	1	D	0.54964	0.969	B	0.43123	0.409	D	0.86056	0.1529	9	0.87932	D	0	.	17.331	0.87264	0.0:0.0:1.0:0.0	.	177	P56545-2	.	W	177	ENSP00000311825:R177W	ENSP00000311825:R177W	R	-	1	2	CTBP2	126705790	1.000000	0.71417	0.464000	0.27143	0.645000	0.38454	9.333000	0.96459	2.409000	0.81822	0.655000	0.94253	CGG		0.652	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		67	294	0	0	0	1	0	67	294				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737313	74737313	+	Missense_Mutation	SNP	A	A	G	rs143283898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74737313A>G	ENST00000370899.3	+	7	705	c.668A>G	c.(667-669)cAc>cGc	p.H223R	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.H223R|TNNI3K_ENST00000326637.3_Missense_Mutation_p.H122R|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.H236R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H223R	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TCTCTGCTTCACAGTGGAGCT	0.448																																						ENST00000370895.1																			0											c.(667-669)cAc>cGc									212.0	202.0	205.0					1																	74737313		2203	4299	6502	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74737313A>G			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.668A>G	1.37:g.74737313A>G	ENSP00000359936:p.His223Arg					FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.H223R|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.H223R|TNNI3K_ENST00000326637.3_Missense_Mutation_p.H122R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H223R	p.H223R			Q59H18	TNI3K_HUMAN			7	703	+			122						Missense_Mutation	SNP	ENST00000370899.3	37	c.668A>G		.	.	.	.	.	.	.	.	.	.	A	19.24	3.789224	0.70337	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	N	0.03967	-0.31	0.58432	D	0.999994	P;D;P;D	0.57899	0.569;0.968;0.802;0.981	B;B;B;B	0.44163	0.442;0.33;0.33;0.443	T	0.26430	-1.0103	10	0.21540	T	0.41	.	15.3456	0.74334	1.0:0.0:0.0:0.0	.	122;223;223;223	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	R	223;223;223;223;122	ENSP00000359936:H223R;ENSP00000359932:H223R;ENSP00000450895:H223R;ENSP00000359928:H223R;ENSP00000322251:H122R	ENSP00000322251:H122R	H	+	2	0	RP11-653A5.2;AC093158.1	74509901	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.896000	0.69822	2.266000	0.75297	0.533000	0.62120	CAC		0.448	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			22	677	0	0	0	1	0	22	677				
AASDH	132949	broad.mit.edu	37	4	57244420	57244420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57244420G>T	ENST00000205214.6	-	4	742	c.562C>A	c.(562-564)Cta>Ata	p.L188I	AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.L88I|AASDH_ENST00000602986.1_Missense_Mutation_p.L35I|AASDH_ENST00000451613.1_Missense_Mutation_p.L188I|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	188					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CAATGCTTTAGCCTCAGATCC	0.368																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(562-564)Cta>Ata		aminoadipate-semialdehyde dehydrogenase							203.0	169.0	181.0					4																	57244420		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57244420G>T	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.562C>A	4.37:g.57244420G>T	ENSP00000205214:p.Leu188Ile					AASDH_ENST00000513376.1_Missense_Mutation_p.L88I|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.L188I|AASDH_ENST00000602986.1_Missense_Mutation_p.L35I	p.L188I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			4	742	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	188					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.562C>A	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	9.060	0.994318	0.19043	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.49432	0.78;1.01;2.85;0.78	5.95	1.76	0.24704	AMP-dependent synthetase/ligase (1);	2.018060	0.02117	N	0.055319	T	0.47414	0.1444	L	0.52011	1.625	0.09310	N	1	B;P;B;B	0.36125	0.279;0.538;0.396;0.45	B;B;B;B	0.35859	0.053;0.178;0.192;0.212	T	0.46610	-0.9179	10	0.37606	T	0.19	2.3294	12.1516	0.54053	0.0746:0.5225:0.4029:0.0	.	35;188;188;188	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	I	188;88;188;35;188	ENSP00000205214:L188I;ENSP00000423760:L88I;ENSP00000409656:L188I;ENSP00000421171:L188I	ENSP00000205214:L188I	L	-	1	2	AASDH	56939177	0.001000	0.12720	0.050000	0.19076	0.453000	0.32348	0.815000	0.27253	0.827000	0.34685	-0.175000	0.13238	CTA		0.368	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		111	435	1	0	7.036e-43	1	8.57727e-43	111	435				
SPTBN4	57731	broad.mit.edu	37	19	41062025	41062025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41062025G>A	ENST00000352632.3	+	25	5206	c.5120G>A	c.(5119-5121)cGc>cAc	p.R1707H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1707					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGACCGCCTGTACGTG	0.667																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5119-5121)cGc>cAc		spectrin, beta, non-erythrocytic 4							30.0	30.0	30.0					19																	41062025		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41062025G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5120G>A	19.37:g.41062025G>A	ENSP00000263373:p.Arg1707His					SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H	p.R1707H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		25	5206	+			1707					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5120G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509478	0.85282	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000004	T	0.64103	0.2568	L	0.54323	1.7	0.38876	D	0.956803	D;D;D;D	0.89917	1.0;0.971;1.0;1.0	D;P;D;D	0.91635	0.997;0.576;0.999;0.993	T	0.70346	-0.4897	10	0.87932	D	0	.	15.682	0.77376	0.0:0.0:1.0:0.0	.	450;383;1707;1707	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	H	1707;1707;1707;450;383	ENSP00000263373:R1707H;ENSP00000340345:R1707H;ENSP00000375879:R450H;ENSP00000375877:R383H	ENSP00000340345:R1707H	R	+	2	0	SPTBN4	45753865	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	1.861000	0.39438	2.209000	0.71365	0.555000	0.69702	CGC		0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			25	143	0	0	0	1	0	25	143				
KLHDC7A	127707	broad.mit.edu	37	1	18808505	18808505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808505G>A	ENST00000400664.1	+	1	1082	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	344						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCAGCCGAAAGAGCCGC	0.672																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1030-1032)Gaa>Aaa		kelch domain containing 7A							13.0	16.0	15.0					1																	18808505		2139	4208	6347	SO:0001583	missense	127707					integral to membrane		g.chr1:18808505G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1030G>A	1.37:g.18808505G>A	ENSP00000383505:p.Glu344Lys						p.E344K	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1082	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	344					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1030G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420592	0.42918	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72835	-0.69	5.31	-1.49	0.08718	.	4.598840	0.00649	N	0.000548	T	0.52741	0.1753	N	0.14661	0.345	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.04013	0.001;0.001	T	0.40156	-0.9578	10	0.45353	T	0.12	.	5.4834	0.16737	0.3099:0.4088:0.2813:0.0	.	281;344	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	K	344;281	ENSP00000383505:E344K	ENSP00000383505:E344K	E	+	1	0	KLHDC7A	18681092	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	0.470000	0.22084	-0.314000	0.08716	0.313000	0.20887	GAA		0.672	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		11	148	0	0	0	1	0	11	148				
NADSYN1	55191	broad.mit.edu	37	11	71183494	71183494	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183494G>T	ENST00000319023.2	+	6	595		c.e6-1			NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTCCTCTCCAGGCACACAGAG	0.512																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.e6-1		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						94.0	84.0	87.0					11																	71183494		2200	4294	6494	SO:0001630	splice_region_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71183494G>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.408-1G>T	11.37:g.71183494G>T								NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			6	595	+								B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Splice_Site	SNP	ENST00000319023.2	37		CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701848	0.48307	.	.	ENSG00000172890	ENST00000319023	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5064	0.50468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NADSYN1	70861142	1.000000	0.71417	0.687000	0.30102	0.115000	0.19883	6.783000	0.75078	2.073000	0.62155	0.561000	0.74099	.		0.512	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	Intron	28	193	1	0	8.16277e-20	1	9.1228e-20	28	193				
BOD1L1	259282	broad.mit.edu	37	4	13601946	13601946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13601946G>A	ENST00000040738.5	-	10	6713	c.6578C>T	c.(6577-6579)cCt>cTt	p.P2193L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2193						nucleus (GO:0005634)	DNA binding (GO:0003677)										ACTGGGCATAGGCCCCTCAAA	0.527																																						ENST00000040738.5																			0											c.(6577-6579)cCt>cTt		biorientation of chromosomes in cell division 1-like 1							75.0	65.0	68.0					4																	13601946		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601946G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6578C>T	4.37:g.13601946G>A	ENSP00000040738:p.Pro2193Leu						p.P2193L	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6713	-			2193					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6578C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764525	0.69878	.	.	ENSG00000038219	ENST00000040738	T	0.27402	1.67	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000059	T	0.57814	0.2079	M	0.77313	2.365	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.62599	-0.6820	10	0.87932	D	0	-5.29	16.0157	0.80439	0.0:0.0:1.0:0.0	.	2193	Q8NFC6	BOD1L_HUMAN	L	2193	ENSP00000040738:P2193L	ENSP00000040738:P2193L	P	-	2	0	BOD1L	13211044	1.000000	0.71417	0.993000	0.49108	0.572000	0.35998	5.826000	0.69293	2.461000	0.83175	0.555000	0.69702	CCT		0.527	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		48	186	0	0	0	1	0	48	186				
TMEM206	55248	broad.mit.edu	37	1	212548540	212548540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212548540G>A	ENST00000261455.4	-	7	1023	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	296						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CTCACATCTTGGACTTTCTGG	0.313																																						ENST00000261455.4																			0				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17						c.(886-888)Caa>Taa		transmembrane protein 206							62.0	62.0	62.0					1																	212548540		2203	4300	6503	SO:0001587	stop_gained	55248					integral to membrane		g.chr1:212548540G>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.886C>T	1.37:g.212548540G>A	ENSP00000261455:p.Gln296*					TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	p.Q296*	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	7	1023	-			296					B7Z4D6|Q6IA87|Q9NV85	Nonsense_Mutation	SNP	ENST00000261455.4	37	c.886C>T	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461568	0.96240	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.67	5.67	0.87782	.	0.137522	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.1204	20.1421	0.98061	0.0:0.0:1.0:0.0	.	.	.	.	X	296;357	.	ENSP00000261455:Q296X	Q	-	1	0	TMEM206	210615163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.198000	0.51035	2.836000	0.97738	0.655000	0.94253	CAA		0.313	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		42	288	0	0	0	1	0	42	288				
HAS2	3037	broad.mit.edu	37	8	122641042	122641042	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122641042C>A	ENST00000303924.4	-	2	1076	c.539G>T	c.(538-540)aGt>aTt	p.S180I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	180					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGCAGATACTTTTGTTGGA	0.458																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(538-540)aGt>aTt		hyaluronan synthase 2							296.0	262.0	274.0					8																	122641042		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641042C>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.539G>T	8.37:g.122641042C>A	ENSP00000306991:p.Ser180Ile						p.S180I	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1076	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		180					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.539G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670841	0.29693	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.44083	0.93	5.87	5.0	0.66597	.	0.113441	0.85682	D	0.000000	T	0.27866	0.0686	N	0.22421	0.69	0.42532	D	0.993049	B	0.19583	0.037	B	0.17098	0.017	T	0.08722	-1.0708	10	0.21014	T	0.42	-12.8627	11.184	0.48644	0.0:0.8605:0.0:0.1395	.	180	Q92819	HAS2_HUMAN	I	180	ENSP00000306991:S180I	ENSP00000306991:S180I	S	-	2	0	HAS2	122710223	1.000000	0.71417	0.944000	0.38274	0.883000	0.51084	3.928000	0.56506	1.631000	0.50456	0.655000	0.94253	AGT		0.458	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		251	1112	1	0	1.20862e-62	1	1.52353e-62	251	1112				
CX3CL1	6376	broad.mit.edu	37	16	57416775	57416775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57416775C>T	ENST00000006053.6	+	3	1136	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	CX3CL1_ENST00000565912.1_Missense_Mutation_p.A304V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A348V	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	342					angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGGAGGCAGGCGGTGGGGCTG	0.657																																						ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(910-912)gCg>gTg		chemokine (C-X3-C motif) ligand 1							41.0	43.0	42.0					16																	57416775		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416775C>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.1025C>T	16.37:g.57416775C>T	ENSP00000006053:p.Ala342Val					CX3CL1_ENST00000006053.6_Missense_Mutation_p.A342V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A348V	p.A304V			P78423	X3CL1_HUMAN			2	3617	+			342			Mucin-like stalk.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.911C>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269945	0.80469	.	.	ENSG00000006210	ENST00000006053	T	0.13778	2.56	5.19	5.19	0.71726	.	0.607960	0.13882	N	0.356231	T	0.28995	0.0720	L	0.36672	1.1	0.41076	D	0.985482	D	0.89917	1.0	D	0.81914	0.995	T	0.01401	-1.1364	10	0.87932	D	0	-27.547	14.2662	0.66121	0.0:1.0:0.0:0.0	.	342	P78423	X3CL1_HUMAN	V	342	ENSP00000006053:A342V	ENSP00000006053:A342V	A	+	2	0	CX3CL1	55974276	0.987000	0.35691	0.982000	0.44146	0.728000	0.41692	3.446000	0.52928	2.412000	0.81896	0.558000	0.71614	GCG		0.657	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		73	331	0	0	0	1	0	73	331				
SOX5	6660	broad.mit.edu	37	12	24102519	24102519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:24102519T>C	ENST00000451604.2	-	1	118	c.17A>G	c.(16-18)gAt>gGt	p.D6G	SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G|SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000381381.2_5'UTR			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	6					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGAGGTAAATCAGGGTCAGT	0.423																																						ENST00000451604.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(16-18)gAt>gGt		SRY (sex determining region Y)-box 5							120.0	107.0	111.0					12																	24102519		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:24102519T>C	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.17A>G	12.37:g.24102519T>C	ENSP00000398273:p.Asp6Gly					SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000545921.1_Intron	p.D6G			P35711	SOX5_HUMAN			1	118	-			6					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.17A>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	t	13.30	2.197084	0.38806	.	.	ENSG00000134532	ENST00000451604;ENST00000537393;ENST00000441133	D;D	0.97279	-4.27;-4.32	5.28	5.28	0.74379	.	0.193467	0.43110	D	0.000609	D	0.94142	0.8121	L	0.29908	0.895	0.80722	D	1	B;B	0.26445	0.149;0.083	B;B	0.30029	0.11;0.051	D	0.92567	0.6063	10	0.56958	D	0.05	.	13.747	0.62881	0.0:0.0:0.0:1.0	.	6;6	G3V0H1;P35711	.;SOX5_HUMAN	G	6	ENSP00000398273:D6G;ENSP00000439832:D6G	ENSP00000393240:D6G	D	-	2	0	SOX5	23993786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.689000	0.74562	2.125000	0.65367	0.524000	0.50904	GAT		0.423	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		10	295	0	0	0	1	0	10	295				
TFAP2D	83741	broad.mit.edu	37	6	50681795	50681795	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50681795C>T	ENST00000008391.3	+	1	255	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGACTAGTCCACGATGCCG	0.502																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(25-27)gtC>gtT		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							61.0	63.0	62.0					6																	50681795		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50681795C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.27C>T	6.37:g.50681795C>T							p.V9V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			1	255	+	Lung NSC(77;0.0334)		9						Silent	SNP	ENST00000008391.3	37	c.27C>T	CCDS4933.1																																																																																				0.502	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		74	331	0	0	0	1	0	74	331				
HNRNPR	10236	broad.mit.edu	37	1	23650226	23650226	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23650226C>A	ENST00000374612.1	-	6	622		c.e6-1		HNRNPR_ENST00000606561.1_Splice_Site|HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000302271.6_Splice_Site|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000478691.1_Splice_Site|HNRNPR_ENST00000427764.2_Splice_Site	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTACAAATACCTGAAATAAAA	0.398																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e5-1		heterogeneous nuclear ribonucleoprotein R							63.0	68.0	66.0					1																	23650226		2203	4300	6503	SO:0001630	splice_region_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23650226C>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.499-1G>T	1.37:g.23650226C>A						HNRNPR_ENST00000606561.1_Splice_Site|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000374612.1_Splice_Site|HNRNPR_ENST00000302271.6_Splice_Site|HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000427764.2_Splice_Site		NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	467	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Splice_Site	SNP	ENST00000374612.1	37		CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771377	0.69992	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	.	.	.	5.14	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5575	0.56263	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPR	23522813	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.684000	0.84104	1.298000	0.44778	0.561000	0.74099	.		0.398	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826	Intron	26	277	1	0	2.44723e-14	1	2.65813e-14	26	277				
CCDC112	153733	broad.mit.edu	37	5	114604698	114604698	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114604698C>A	ENST00000512261.1	-	10	1596		c.e10-1		CCDC112_ENST00000506442.1_Splice_Site|CCDC112_ENST00000379611.5_Splice_Site|CCDC112_ENST00000395557.4_Splice_Site			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112											endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TGTTTTCAACCTGTAATCAGA	0.368																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.e9-1		coiled-coil domain containing 112							134.0	130.0	132.0					5																	114604698		2202	4300	6502	SO:0001630	splice_region_variant	153733							g.chr5:114604698C>A	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1180-1G>T	5.37:g.114604698C>A						CCDC112_ENST00000512261.1_Splice_Site|CCDC112_ENST00000395557.4_Splice_Site|CCDC112_ENST00000506442.1_Splice_Site		NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	9	1716	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)						Q6A334	Splice_Site	SNP	ENST00000512261.1	37		CCDS4117.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.174790	0.78452	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC112	114632597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.215000	0.72206	2.803000	0.96430	0.650000	0.86243	.		0.368	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	Intron	52	278	1	0	3.4597e-24	1	3.94879e-24	52	278				
ZDHHC22	283576	broad.mit.edu	37	14	77605761	77605761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77605761G>A	ENST00000319374.4	-	2	523	c.321C>T	c.(319-321)caC>caT	p.H107H	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	107					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGTGATGGTCGTGCCTCAGGG	0.627																																						ENST00000319374.4																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(319-321)caC>caT		zinc finger, DHHC-type containing 22							33.0	39.0	37.0					14																	77605761		2182	4273	6455	SO:0001819	synonymous_variant	283576					integral to membrane	acyltransferase activity|zinc ion binding	g.chr14:77605761G>A	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.321C>T	14.37:g.77605761G>A						RP11-463C8.4_ENST00000557752.1_Intron	p.H107H	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	2	523	-			107					A6NH02|B7Z2L5|Q149P4	Silent	SNP	ENST00000319374.4	37	c.321C>T	CCDS45140.1																																																																																				0.627	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		21	72	0	0	0	1	0	21	72				
CHRM2	1129	broad.mit.edu	37	7	136699928	136699928	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136699928G>A	ENST00000445907.2	+	3	844	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	106	Agonist binding. {ECO:0000305}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGACTATGTGGTCAGCAATGC	0.478																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(316-318)Gtc>Atc		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						171.0	162.0	165.0					7																	136699928		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699928G>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.316G>A	7.37:g.136699928G>A	ENSP00000399745:p.Val106Ile					CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|AC009264.1_ENST00000597642.1_RNA	p.V106I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	844	+			106					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.316G>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392604	0.83011	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.058614	0.64402	D	0.000002	T	0.29817	0.0745	L	0.56340	1.77	0.80722	D	1	P	0.41420	0.749	P	0.45712	0.491	T	0.01349	-1.1378	10	0.17369	T	0.5	-4.778	19.7047	0.96068	0.0:0.0:1.0:0.0	.	106	P08172	ACM2_HUMAN	I	106	ENSP00000399745:V106I;ENSP00000415386:V106I;ENSP00000319984:V106I;ENSP00000380733:V106I;ENSP00000384937:V106I;ENSP00000384401:V106I	ENSP00000319984:V106I	V	+	1	0	CHRM2	136350468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.807000	0.99171	2.655000	0.90218	0.650000	0.86243	GTC		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			117	556	0	0	0	1	0	117	556				
ZBTB22	9278	broad.mit.edu	37	6	33284326	33284326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284326T>C	ENST00000431845.2	-	2	519	c.368A>G	c.(367-369)gAc>gGc	p.D123G	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTTGACAATGTCAGCAGCAGC	0.582																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(367-369)gAc>gGc		zinc finger and BTB domain containing 22							103.0	104.0	104.0					6																	33284326		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284326T>C	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.368A>G	6.37:g.33284326T>C	ENSP00000407545:p.Asp123Gly					ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G	p.D123G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	519	-			123					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.368A>G	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611789	0.66558	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.68765	-0.35;-0.35;-0.35	4.44	4.44	0.53790	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.35585	N	0.003104	T	0.71039	0.3293	L	0.59967	1.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.74601	-0.3611	10	0.59425	D	0.04	.	11.7181	0.51666	0.0:0.0:0.0:1.0	.	123	O15209	ZBT22_HUMAN	G	123	ENSP00000404403:D123G;ENSP00000407545:D123G;ENSP00000413172:D123G	ENSP00000404403:D123G	D	-	2	0	ZBTB22	33392304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	1.870000	0.54199	0.450000	0.29827	GAC		0.582	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			155	671	0	0	0	1	0	155	671				
KNTC1	9735	broad.mit.edu	37	12	123072361	123072361	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123072361A>G	ENST00000333479.7	+	39	4011	c.3834A>G	c.(3832-3834)tcA>tcG	p.S1278S	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1278					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGTTGGTTCATTTGGTACCT	0.418																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3832-3834)tcA>tcG		kinetochore associated 1							138.0	123.0	127.0					12																	123072361		1871	4121	5992	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123072361A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3834A>G	12.37:g.123072361A>G						KNTC1_ENST00000450485.2_Intron	p.S1278S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	39	4011	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1278					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.3834A>G	CCDS45002.1																																																																																				0.418	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			26	143	0	0	0	1	0	26	143				
NRXN2	9379	broad.mit.edu	37	11	64410050	64410050	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64410050C>T	ENST00000377551.1	-	16	3615				NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000301894.2_Missense_Mutation_p.A76T|NRXN2_ENST00000265459.6_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGTTGATGGCGATGGGCACG	0.721																																						ENST00000301894.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(226-228)Gcc>Acc		neurexin 2							47.0	37.0	41.0					11																	64410050		2201	4296	6497	SO:0001627	intron_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64410050C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3403+5640G>A	11.37:g.64410050C>T						NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron	p.A76T	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN			1	737	-			0			Laminin G-like 1.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.226G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	c	19.99	3.928373	0.73327	.	.	ENSG00000110076	ENST00000301894;ENST00000423049	T;T	0.55930	0.49;0.85	1.81	0.537	0.17144	.	.	.	.	.	T	0.42899	0.1223	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	B	0.43950	0.437	T	0.47459	-0.9116	9	0.87932	D	0	.	6.4694	0.21999	0.2853:0.7147:0.0:0.0	.	76	P58401	NRX2B_HUMAN	T	76;37	ENSP00000301894:A76T;ENSP00000407374:A37T	ENSP00000301894:A76T	A	-	1	0	NRXN2	64166626	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.311000	0.51919	0.936000	0.37367	0.176000	0.17051	GCC		0.721	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		21	106	0	0	0	1	0	21	106				
PLPPR4	9890	broad.mit.edu	37	1	99771527	99771527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771527C>T	ENST00000370185.3	+	7	1750	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATACCTTGCCGCGAGCCAAT	0.498																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1252-1254)cCg>cTg									55.0	56.0	56.0					1																	99771527		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771527C>T																												ENST00000370185.3:c.1253C>T	1.37:g.99771527C>T	ENSP00000359204:p.Pro418Leu					LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L	p.P418L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1750	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	418					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1253C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996051	0.54147	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.70869	0.15;-0.52;-0.34	5.71	5.71	0.89125	.	0.272209	0.42682	D	0.000671	T	0.80954	0.4723	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.78570	-0.2153	9	.	.	.	-20.7641	19.8478	0.96722	0.0:1.0:0.0:0.0	.	360;418	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	418;360;418;260	ENSP00000359204:P418L;ENSP00000394913:P360L;ENSP00000359203:P260L	.	P	+	2	0	RP4-788L13.1	99544115	1.000000	0.71417	0.950000	0.38849	0.185000	0.23345	7.212000	0.77941	2.685000	0.91497	0.650000	0.86243	CCG		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			61	243	0	0	0	1	0	61	243				
ARID3A	1820	broad.mit.edu	37	19	971939	971939	+	Silent	SNP	C	C	T	rs535674511	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	552	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.G552G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAggcggcggcggcggcg	0.657													.|||	2	0.000399361	0.0	0.0	5008	,	,		9042	0.002		0.0	False		,,,				2504	0.0				Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			1	Substitution - coding silent(1)	p.G552G(1)	endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1654-1656)ggC>ggT		AT rich interactive domain 3A (BRIGHT-like)							22.0	30.0	28.0					19																	971939		2198	4283	6481	SO:0001819	synonymous_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:971939C>T	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1656C>T	19.37:g.971939C>T							p.G552G	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1983	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	552			Gly-rich.|Important for cytoplasmic localization (By similarity).		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	c.1656C>T	CCDS12050.1																																																																																				0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		58	280	0	0	0	1	0	58	280				
NELFE	7936	broad.mit.edu	37	6	31920095	31920095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31920095G>A	ENST00000375429.3	-	11	1352	c.1126C>T	c.(1126-1128)Ctt>Ttt	p.L376F	NELFE_ENST00000375425.5_Missense_Mutation_p.L383F|NELFE_ENST00000444811.2_Missense_Mutation_p.L346F	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	376					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCATCCACAAGGTTTTCCTTG	0.522																																						ENST00000375429.3																			0											c.(1126-1128)Ctt>Ttt		negative elongation factor complex member E							134.0	111.0	119.0					6																	31920095		2203	4300	6503	SO:0001583	missense	7936							g.chr6:31920095G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.1126C>T	6.37:g.31920095G>A	ENSP00000364578:p.Leu376Phe					NELFE_ENST00000444811.2_Missense_Mutation_p.L346F|NELFE_ENST00000375425.5_Missense_Mutation_p.L383F	p.L376F	NM_002904.5	NP_002895.3					11	1352	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.1126C>T	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733648	0.69189	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811	T;T;T	0.50277	0.76;0.75;0.75	6.07	6.07	0.98685	.	0.270209	0.25735	N	0.028642	T	0.41558	0.1164	N	0.08118	0	0.37638	D	0.921935	D;D	0.71674	0.995;0.998	D;D	0.75484	0.969;0.986	T	0.55952	-0.8059	10	0.87932	D	0	-10.5148	16.144	0.81551	0.0:0.0:1.0:0.0	.	346;376	B4DUN1;P18615	.;NELFE_HUMAN	F	376;383;346	ENSP00000364578:L376F;ENSP00000364574:L383F;ENSP00000388400:L346F	ENSP00000364574:L383F	L	-	1	0	RDBP	32028074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.292000	0.51772	2.884000	0.98904	0.655000	0.94253	CTT		0.522	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			52	218	0	0	0	1	0	52	218				
PIWIL2	55124	broad.mit.edu	37	8	22161539	22161539	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22161539C>A	ENST00000454009.2	+	11	1696	c.1187C>A	c.(1186-1188)gCc>gAc	p.A396D	PIWIL2_ENST00000356766.6_Missense_Mutation_p.A396D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A396D	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	396	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				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)		CAAAGGCATGCCATTTATCAG	0.373																																						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.(1186-1188)gCc>gAc		piwi-like RNA-mediated gene silencing 2							115.0	105.0	109.0					8																	22161539		2203	4300	6503	SO:0001583	missense	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.chr8:22161539C>A	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.1187C>A	8.37:g.22161539C>A	ENSP00000406956:p.Ala396Asp					PIWIL2_ENST00000521356.1_Missense_Mutation_p.A396D|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A396D	p.A396D	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	11	1335	+			396			PAZ.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1187C>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	5.493	0.276038	0.10403	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13307	2.6;2.6;2.6	5.78	4.91	0.64330	Argonaute/Dicer protein, PAZ (3);	0.451135	0.26082	N	0.026456	T	0.05686	0.0149	N	0.04260	-0.245	0.36010	D	0.837998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.24977	-1.0145	10	0.08381	T	0.77	-47.1199	10.3046	0.43672	0.0:0.8473:0.0:0.1527	.	396;396	E7ECA4;Q8TC59	.;PIWL2_HUMAN	D	396	ENSP00000349208:A396D;ENSP00000428267:A396D;ENSP00000406956:A396D	ENSP00000349208:A396D	A	+	2	0	PIWIL2	22217484	0.600000	0.26899	0.998000	0.56505	0.726000	0.41606	1.119000	0.31258	1.595000	0.50050	-0.229000	0.12294	GCC		0.373	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			63	302	1	0	4.00338e-15	1	4.36571e-15	63	302				
GREM2	64388	broad.mit.edu	37	1	240656545	240656545	+	Silent	SNP	C	C	T	rs148064794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240656545C>T	ENST00000318160.4	-	2	497	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	77	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTGCCGCAGCGGCTGCGTCT	0.647																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(229-231)ccG>ccA		gremlin 2, DAN family BMP antagonist		C		1,4405	2.1+/-5.4	0,1,2202	49.0	50.0	50.0		231	-7.2	1.0	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	GREM2	NM_022469.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		77/169	240656545	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656545C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.231G>A	1.37:g.240656545C>T							p.P77P	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	497	-		all_cancers(173;0.0196)	77			CTCK.		Q86UD9	Silent	SNP	ENST00000318160.4	37	c.231G>A	CCDS31070.1																																																																																				0.647	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		98	366	0	0	0	1	0	98	366				
SEC24C	9632	broad.mit.edu	37	10	75528855	75528855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528855C>A	ENST00000339365.2	+	18	2531	c.2369C>A	c.(2368-2370)aCt>aAt	p.T790N	SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N|SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N|SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	790					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)|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(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAAACAGTGACTGTGGAGTTC	0.557																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2368-2370)aCt>aAt		SEC24 family member C							86.0	75.0	79.0					10																	75528855		2203	4300	6503	SO:0001583	missense	9632				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	protein binding|zinc ion binding	g.chr10:75528855C>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2369C>A	10.37:g.75528855C>A	ENSP00000343405:p.Thr790Asn					SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N|SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N	p.T790N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			18	2531	+	Prostate(51;0.0112)		790					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2369C>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631187	0.87660	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.72	5.72	0.89469	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.79475	2.455	0.80722	D	1	P;P;P	0.46512	0.77;0.853;0.879	B;B;P	0.51701	0.258;0.444;0.677	D	0.84817	0.0794	10	0.66056	D	0.02	-13.5358	19.8791	0.96888	0.0:1.0:0.0:0.0	.	671;790;790	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	N	38;790;38;790;671	ENSP00000446174:T38N;ENSP00000321845:T790N;ENSP00000445023:T38N;ENSP00000343405:T790N;ENSP00000402913:T671N	ENSP00000343405:T790N	T	+	2	0	SEC24C	75198861	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.706000	0.92434	0.467000	0.42956	ACT		0.557	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			35	163	1	0	3.90053e-15	1	4.25374e-15	35	163				
ANKRD49	54851	broad.mit.edu	37	11	94231498	94231498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94231498C>T	ENST00000544612.1	+	3	1017	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	174					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACAAAAGGCCTCTTGACCCC	0.493																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(520-522)Ctc>Ttc		ankyrin repeat domain 49							81.0	72.0	75.0					11																	94231498		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231498C>T	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.520C>T	11.37:g.94231498C>T	ENSP00000440396:p.Leu174Phe					ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F	p.L174F	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN			3	1017	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	174					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.520C>T	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556860	0.65425	.	.	ENSG00000168876	ENST00000544612;ENST00000302755	T;T	0.70631	-0.5;-0.5	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.341802	0.30695	N	0.009080	T	0.75766	0.3894	M	0.63428	1.95	0.31341	N	0.683661	D	0.61697	0.99	P	0.54759	0.76	T	0.80134	-0.1509	10	0.87932	D	0	-3.3387	9.9303	0.41519	0.0:0.8141:0.0:0.1859	.	174	Q8WVL7	ANR49_HUMAN	F	174	ENSP00000440396:L174F;ENSP00000303518:L174F	ENSP00000303518:L174F	L	+	1	0	ANKRD49	93871146	0.980000	0.34600	0.974000	0.42286	0.923000	0.55619	2.210000	0.42816	2.780000	0.95670	0.655000	0.94253	CTC		0.493	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		58	271	0	0	0	1	0	58	271				
BMP4	652	broad.mit.edu	37	14	54417345	54417345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417345C>T	ENST00000245451.4	-	4	1025	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	211					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTTTCCCACCGTGTCACATT	0.537																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(631-633)cGg>cAg		bone morphogenetic protein 4							111.0	102.0	105.0					14																	54417345		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417345C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.632G>A	14.37:g.54417345C>T	ENSP00000245451:p.Arg211Gln					BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q	p.R211Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	1025	-			211					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.632G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013377	0.35511	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.64260	-0.09;-0.09	5.09	3.11	0.35812	Transforming growth factor-beta, N-terminal (1);	0.417987	0.27126	N	0.020803	T	0.49064	0.1535	L	0.41824	1.3	0.30831	N	0.736733	B	0.18310	0.027	B	0.18871	0.023	T	0.51164	-0.8740	10	0.40728	T	0.16	.	8.2551	0.31751	0.0:0.7359:0.0:0.2641	.	211	P12644	BMP4_HUMAN	Q	211	ENSP00000245451:R211Q;ENSP00000394165:R211Q	ENSP00000245451:R211Q	R	-	2	0	BMP4	53487095	0.963000	0.33076	1.000000	0.80357	0.998000	0.95712	0.977000	0.29475	1.364000	0.46038	0.655000	0.94253	CGG		0.537	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		78	442	0	0	0	1	0	78	442				
DYNC1LI1	51143	broad.mit.edu	37	3	32572011	32572011	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32572011A>G	ENST00000273130.4	-	9	1185	c.1082T>C	c.(1081-1083)tTt>tCt	p.F361S	DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	361					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CTCATGTACAAACTGAAATGA	0.303																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.e9-1		dynein, cytoplasmic 1, light intermediate chain 1							78.0	78.0	78.0					3																	32572011		2203	4297	6500	SO:0001630	splice_region_variant	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32572011A>G	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1081-1T>C	3.37:g.32572011A>G						DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245_splice	p.F361_splice	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			9	1185	-			361					A2RRG7|Q53HC8|Q53HK7	Splice_Site	SNP	ENST00000273130.4	37	c.1080_splice	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437829	0.43326	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.18960	2.18;2.18	5.95	5.95	0.96441	.	0.093290	0.85682	D	0.000000	T	0.14917	0.0360	N	0.12182	0.205	0.58432	D	0.999991	P;B	0.47191	0.891;0.007	B;B	0.43225	0.412;0.013	T	0.11743	-1.0575	10	0.21014	T	0.42	-17.4934	16.4069	0.83677	1.0:0.0:0.0:0.0	.	245;361	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	361;245	ENSP00000273130:F361S;ENSP00000407279:F245S	ENSP00000273130:F361S	F	-	2	0	DYNC1LI1	32547015	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.252000	0.78309	2.272000	0.75746	0.460000	0.39030	TTT		0.303	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141	Missense_Mutation	60	226	0	0	0	1	0	60	226				
EFCAB5	374786	broad.mit.edu	37	17	28380798	28380798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380798G>A	ENST00000394835.3	+	10	2018	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGGTCACGCAGAGAGTCT	0.488																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1825-1827)cGc>cAc		EF-hand calcium binding domain 5							246.0	236.0	239.0					17																	28380798		2112	4227	6339	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380798G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1826G>A	17.37:g.28380798G>A	ENSP00000378312:p.Arg609His					EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H	p.R609H	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	2018	+			609					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1826G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881093	0.33255	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.78	-9.32	0.00643	.	1.031300	0.07709	N	0.941752	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B	0.18610	0.017;0.029;0.011;0.029;0.001;0.006	B;B;B;B;B;B	0.12837	0.003;0.008;0.004;0.005;0.0;0.003	T	0.15378	-1.0439	10	0.15499	T	0.54	5.8403	2.6649	0.05041	0.4122:0.0884:0.3233:0.1761	.	553;553;609;609;609;609	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	H	553;352;266;609;609;609;609;553;415	ENSP00000440619:R553H;ENSP00000445575:R266H;ENSP00000378312:R609H;ENSP00000322003:R609H;ENSP00000378309:R609H;ENSP00000368012:R609H;ENSP00000417009:R415H	ENSP00000322003:R609H	R	+	2	0	EFCAB5	25404924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.602000	0.00891	-1.290000	0.02372	-1.561000	0.00884	CGC		0.488	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		104	542	0	0	0	1	0	104	542				
SEC23IP	11196	broad.mit.edu	37	10	121663749	121663749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121663749G>A	ENST00000369075.3	+	4	1133	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	354	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACAGATAGTCGATTTATTCCC	0.423																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(1060-1062)cGa>cAa		SEC23 interacting protein							79.0	85.0	82.0					10																	121663749		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121663749G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1061G>A	10.37:g.121663749G>A	ENSP00000358071:p.Arg354Gln					SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	p.R354Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	4	1133	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	354			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1061G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297463	0.81025	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.32023	1.47;1.47;1.47	5.46	5.46	0.80206	.	0.046877	0.85682	D	0.000000	T	0.48077	0.1480	M	0.79258	2.445	0.48901	D	0.999727	D;P	0.64830	0.994;0.908	P;B	0.54238	0.746;0.327	T	0.48352	-0.9043	10	0.51188	T	0.08	-23.302	12.9576	0.58438	0.074:0.0:0.926:0.0	.	143;354	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	Q	354;143;88	ENSP00000358071:R354Q;ENSP00000438773:R143Q;ENSP00000396906:R88Q	ENSP00000358071:R354Q	R	+	2	0	SEC23IP	121653739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.291000	0.72719	2.713000	0.92767	0.655000	0.94253	CGA		0.423	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			68	248	0	0	0	1	0	68	248				
KNCN	148930	broad.mit.edu	37	1	47016857	47016857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47016857G>A	ENST00000481882.2	-	1	342	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C|KNCN_ENST00000524908.1_5'Flank			A6PVL3	KNCN_HUMAN	kinocilin	11						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGCAGGCCGCGGAAGTCTCTG	0.642																																						ENST00000481882.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(31-33)Cgc>Tgc		kinocilin							42.0	51.0	48.0					1																	47016857		2056	4192	6248	SO:0001583	missense	148930					integral to membrane		g.chr1:47016857G>A	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.31C>T	1.37:g.47016857G>A	ENSP00000419705:p.Arg11Cys					MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C	p.R11C			A6PVL3	KNCN_HUMAN			1	342	-	Acute lymphoblastic leukemia(166;0.155)		11					A8MXE3	Missense_Mutation	SNP	ENST00000481882.2	37	c.31C>T		.	.	.	.	.	.	.	.	.	.	G	11.79	1.745108	0.30955	.	.	ENSG00000162456	ENST00000481882;ENST00000396314	T	0.70282	-0.47	5.39	4.48	0.54585	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.37725	D	0.925069	B	0.13145	0.007	B	0.10450	0.005	T	0.63804	-0.6554	8	0.87932	D	0	-4.4966	10.1114	0.42565	0.0926:0.0:0.9074:0.0	.	11	A6PVL3-2	.	C	11	ENSP00000419705:R11C	ENSP00000379607:R11C	R	-	1	0	KNCN	46789444	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	3.772000	0.55325	1.278000	0.44430	-0.140000	0.14226	CGC		0.642	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		58	432	0	0	0	1	0	58	432				
ZFYVE26	23503	broad.mit.edu	37	14	68229498	68229498	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229498G>T	ENST00000347230.4	-	33	6188	c.6050C>A	c.(6049-6051)gCt>gAt	p.A2017D	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2017					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATAGGCAGCAGCAACTAAAAT	0.498																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(6049-6051)gCt>gAt		zinc finger, FYVE domain containing 26							85.0	74.0	78.0					14																	68229498		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68229498G>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6050C>A	14.37:g.68229498G>T	ENSP00000251119:p.Ala2017Asp					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	p.A2017D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	33	6188	-			2017					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.6050C>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252266	0.80135	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27890	1.78;1.64	5.62	2.78	0.32641	.	0.232813	0.43747	D	0.000530	T	0.41511	0.1162	L	0.46157	1.445	0.43426	D	0.995587	D;D	0.76494	0.999;0.997	D;P	0.71414	0.973;0.879	T	0.07809	-1.0753	10	0.31617	T	0.26	-0.1938	8.2721	0.31851	0.1347:0.0:0.7368:0.1285	.	2017;2017	G3V2D8;Q68DK2	.;ZFY26_HUMAN	D	2017;1996;2017	ENSP00000251119:A2017D;ENSP00000450603:A2017D	ENSP00000251119:A2017D	A	-	2	0	ZFYVE26	67299251	0.325000	0.24660	0.983000	0.44433	0.994000	0.84299	2.240000	0.43088	0.316000	0.23135	0.563000	0.77884	GCT		0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		24	148	1	0	2.44723e-14	1	2.65813e-14	24	148				
COL5A1	1289	broad.mit.edu	37	9	137591908	137591908	+	Missense_Mutation	SNP	C	C	T	rs561761305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137591908C>T	ENST00000371817.3	+	3	845	c.431C>T	c.(430-432)aCg>aTg	p.T144M	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	144	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCACACGGGGAAGCCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.001					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(430-432)aCg>aTg		collagen, type V, alpha 1							55.0	61.0	59.0					9																	137591908		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591908C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.431C>T	9.37:g.137591908C>T	ENSP00000360882:p.Thr144Met					COL5A1_ENST00000464187.1_3'UTR	p.T144M	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	845	+		Myeloproliferative disorder(178;0.0341)	144			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.431C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608730	0.46527	.	.	ENSG00000130635	ENST00000371817	T	0.02472	4.28	4.57	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.507528	0.17987	U	0.155333	T	0.04003	0.0112	M	0.68593	2.085	0.32628	N	0.522422	B	0.11235	0.004	B	0.10450	0.005	T	0.02751	-1.1115	10	0.49607	T	0.09	.	5.2768	0.15653	0.1567:0.6225:0.0:0.2207	.	144	P20908	CO5A1_HUMAN	M	144	ENSP00000360882:T144M	ENSP00000360882:T144M	T	+	2	0	COL5A1	136731729	0.445000	0.25657	0.954000	0.39281	0.986000	0.74619	1.052000	0.30429	1.047000	0.40274	0.655000	0.94253	ACG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		70	304	0	0	0	1	0	70	304				
WNK1	65125	broad.mit.edu	37	12	987393	987393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:987393C>T	ENST00000315939.6	+	10	2882	c.2239C>T	c.(2239-2241)Cag>Tag	p.Q747*	WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.Q1160*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	747					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGAATACAGCAGACAGCCCC	0.438																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(3478-3480)Cag>Tag		WNK lysine deficient protein kinase 1							110.0	98.0	102.0					12																	987393		2203	4300	6503	SO:0001587	stop_gained	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:987393C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2239C>T	12.37:g.987393C>T	ENSP00000313059:p.Gln747*					WNK1_ENST00000315939.6_Nonsense_Mutation_p.Q747*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*	p.Q1160*	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	4121	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		905					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Nonsense_Mutation	SNP	ENST00000315939.6	37	c.3478C>T	CCDS8506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.339887|12.339887	0.99658|0.99658	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000544965;ENST00000545285|ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000535698	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.191642	.|0.37095	.|N	.|0.002245	T|.	0.66713|.	0.2817|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57353|.	-0.7826|.	3|.	.|0.16896	.|T	.|0.51	-1.1582|-1.1582	18.6582|18.6582	0.91462|0.91462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	69;66|746;747;1160;166;1245;340;17	.|.	.|ENSP00000252477:Q166X	A|Q	+|+	2|1	0|0	WNK1|WNK1	857654|857654	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.996000|0.996000	0.88848|0.88848	4.571000|4.571000	0.60879|0.60879	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.438	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		56	382	0	0	0	1	0	56	382				
DERL3	91319	broad.mit.edu	37	22	24179333	24179333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24179333C>T	ENST00000318109.7	-	6	548	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Missense_Mutation_p.V178M|DERL3_ENST00000404056.1_Missense_Mutation_p.V151M|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M			Q96Q80	DERL3_HUMAN	derlin 3	178					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						ATATGGCCCACCGCAATCCCT	0.627																																						ENST00000404056.1																			0				ovary(1)|prostate(1)|skin(1)	3						c.(451-453)Gtg>Atg		derlin 3							65.0	59.0	61.0					22																	24179333		2203	4300	6503	SO:0001583	missense	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179333C>T	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.532G>A	22.37:g.24179333C>T	ENSP00000315303:p.Val178Met					DERL3_ENST00000406855.3_Missense_Mutation_p.V178M|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M|DERL3_ENST00000318109.7_Missense_Mutation_p.V178M	p.V151M			Q96Q80	DERL3_HUMAN			5	469	-			178					F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	c.451G>A	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737813	0.69304	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.33865	2.66;1.39;2.66;2.66	4.63	3.59	0.41128	.	0.070231	0.56097	D	0.000031	T	0.64940	0.2644	M	0.90082	3.085	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.73708	0.972;0.981	T	0.73275	-0.4034	10	0.72032	D	0.01	.	13.4842	0.61355	0.1578:0.8422:0.0:0.0	.	178;178	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	M	178;151;178;178	ENSP00000384744:V178M;ENSP00000384473:V151M;ENSP00000315303:V178M;ENSP00000419399:V178M	ENSP00000315303:V178M	V	-	1	0	DERL3	22509333	1.000000	0.71417	0.711000	0.30485	0.851000	0.48451	5.767000	0.68850	1.074000	0.40909	0.558000	0.71614	GTG		0.627	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		13	216	0	0	0	1	0	13	216				
ATP10D	57205	broad.mit.edu	37	4	47563037	47563037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47563037G>A	ENST00000273859.3	+	14	2882	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	871					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGACAACAGGGAAGAATTAC	0.383																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(2611-2613)agG>agA		ATPase, class V, type 10D							176.0	163.0	168.0					4																	47563037		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47563037G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2613G>A	4.37:g.47563037G>A							p.R871R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			14	2882	+			871					A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.2613G>A	CCDS3476.1																																																																																				0.383	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		114	497	0	0	0	1	0	114	497				
OR51E1	143503	broad.mit.edu	37	11	4674108	4674108	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4674108C>A	ENST00000396952.5	+	2	1002	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCACAGTGCTGCTGGCCAT	0.522																																						ENST00000396952.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(352-354)Ctg>Atg		olfactory receptor, family 51, subfamily E, member 1							113.0	83.0	93.0					11																	4674108		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674108C>A	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.352C>A	11.37:g.4674108C>A	ENSP00000380155:p.Leu118Met					OR51E1_ENST00000530215.1_Intron	p.L118M	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1002	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	117					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.352C>A	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388700	0.61956	.	.	ENSG00000180785	ENST00000396952	D	0.86366	-2.11	4.66	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000652	D	0.93690	0.7984	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93031	0.6448	10	0.87932	D	0	.	9.6807	0.40067	0.0:0.8297:0.0:0.1703	.	117	Q8TCB6	O51E1_HUMAN	M	118	ENSP00000380155:L118M	ENSP00000380155:L118M	L	+	1	2	OR51E1	4630684	0.454000	0.25728	0.997000	0.53966	0.989000	0.77384	1.137000	0.31479	0.593000	0.29745	0.655000	0.94253	CTG		0.522	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		62	268	1	0	3.74213e-36	1	4.47626e-36	62	268				
CLCNKA	1187	broad.mit.edu	37	1	16353838	16353838	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16353838A>C	ENST00000331433.4	+	8	708	c.689A>C	c.(688-690)cAc>cCc	p.H230P	CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000375692.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	230					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGTCTTCCCACTTCTCTGTC	0.647																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(688-690)cAc>cCc		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						95.0	97.0	97.0					1																	16353838		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353838A>C		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.689A>C	1.37:g.16353838A>C	ENSP00000332771:p.His230Pro					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000331433.4_Missense_Mutation_p.H230P|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P	p.H230P			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	9	817	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	230					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.689A>C	CCDS167.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578506	0.65878	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	3.02	3.02	0.34903	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.80183	2.485	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95756	0.8796	10	0.72032	D	0.01	.	10.7799	0.46371	1.0:0.0:0.0:0.0	.	187;230;230	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	P	230;230;187;230	ENSP00000364844:H230P;ENSP00000410353:H230P;ENSP00000414445:H187P;ENSP00000332771:H230P	ENSP00000332771:H230P	H	+	2	0	CLCNKA	16226425	0.807000	0.29009	1.000000	0.80357	0.974000	0.67602	1.689000	0.37700	1.368000	0.46115	0.260000	0.18958	CAC		0.647	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			73	787	0	0	0	1	0	73	787				
CPNE2	221184	broad.mit.edu	37	16	57149461	57149461	+	Splice_Site	SNP	C	C	T	rs376741496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57149461C>T	ENST00000535318.2	+	5	795	c.434C>T	c.(433-435)aCg>aTg	p.T145M	CPNE2_ENST00000290776.8_Splice_Site_p.T145M|CPNE2_ENST00000565874.1_Splice_Site_p.T145M|CPNE2_ENST00000537605.1_Splice_Site_p.T43M			Q96FN4	CPNE2_HUMAN	copine II	145	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCTTGATTACGGTACCAGTC	0.607																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.e5+1		copine II		C	MET/THR	2,4394	4.2+/-10.8	0,2,2196	77.0	68.0	71.0		434	3.8	1.0	16		71	0,8600		0,0,4300	no	missense-near-splice	CPNE2	NM_152727.5	81	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	145/549	57149461	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	221184							g.chr16:57149461C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.435+1C>T	16.37:g.57149461C>T						CPNE2_ENST00000290776.8_Splice_Site_p.T145_splice|CPNE2_ENST00000537605.1_Splice_Site_p.T43_splice|CPNE2_ENST00000565874.1_Splice_Site_p.T145_splice	p.T145_splice			Q96FN4	CPNE2_HUMAN			5	795	+		all_neural(199;0.224)	145			C2 2.		Q68D19|Q719H8|Q86XP9	Splice_Site	SNP	ENST00000535318.2	37	c.435_splice	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527307	0.44969	4.55E-4	0.0	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.09255	3.43;3.0;3.43	4.73	3.78	0.43462	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	M	0.83852	2.665	0.54753	D	0.999988	D;P	0.69078	0.997;0.668	P;B	0.50231	0.635;0.207	T	0.11108	-1.0601	10	0.66056	D	0.02	-10.54	13.0984	0.59206	0.0:0.9224:0.0:0.0776	.	145;145	A8K8A4;Q96FN4	.;CPNE2_HUMAN	M	145;43;145	ENSP00000290776:T145M;ENSP00000445468:T43M;ENSP00000439018:T145M	ENSP00000290776:T145M	T	+	2	0	CPNE2	55706962	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.616000	0.54174	1.015000	0.39444	-0.119000	0.15052	ACG		0.607	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727	Missense_Mutation	59	223	0	0	0	1	0	59	223				
SMPD3	55512	broad.mit.edu	37	16	68404770	68404770	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68404770A>G	ENST00000219334.5	-	3	1918	c.1315T>C	c.(1315-1317)Ttt>Ctt	p.F439L	SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L|SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	439					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACCTTGAGAAACAGAGCTCCC	0.612																																						ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1315-1317)Ttt>Ctt		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						46.0	49.0	48.0					16																	68404770		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68404770A>G	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1315T>C	16.37:g.68404770A>G	ENSP00000219334:p.Phe439Leu					SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L|SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L	p.F439L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1918	-		Ovarian(137;0.0563)	439					B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.1315T>C	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072488	0.36566	.	.	ENSG00000103056	ENST00000219334	T	0.27890	1.64	5.37	5.37	0.77165	Endonuclease/exonuclease/phosphatase (2);	0.047576	0.85682	D	0.000000	T	0.24661	0.0598	L	0.29908	0.895	0.47819	D	0.99952	B;B;B	0.21225	0.003;0.053;0.053	B;B;B	0.27715	0.007;0.082;0.082	T	0.05971	-1.0853	10	0.23891	T	0.37	-5.2878	13.319	0.60423	1.0:0.0:0.0:0.0	.	439;439;439	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	L	439	ENSP00000219334:F439L	ENSP00000219334:F439L	F	-	1	0	SMPD3	66962271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.837000	0.75354	2.036000	0.60181	0.533000	0.62120	TTT		0.612	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		25	96	0	0	0	1	0	25	96				
EFS	10278	broad.mit.edu	37	14	23828965	23828965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23828965G>A	ENST00000216733.3	-	4	1329	c.722C>T	c.(721-723)gCa>gTa	p.A241V	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.A148V	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	241	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTCCCCGTCTGCCAGCAGTTC	0.657																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(721-723)gCa>gTa		embryonal Fyn-associated substrate							49.0	58.0	55.0					14																	23828965		2203	4298	6501	SO:0001583	missense	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828965G>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.722C>T	14.37:g.23828965G>A	ENSP00000216733:p.Ala241Val					EFS_ENST00000351354.3_Missense_Mutation_p.A148V|EFS_ENST00000429593.2_Intron	p.A241V	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1329	-	all_cancers(95;7.12e-06)		241			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.722C>T	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.967102	0.34754	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.58940	0.3;0.93	4.62	0.251	0.15540	.	1.158660	0.06436	N	0.724990	T	0.45135	0.1327	L	0.44542	1.39	0.09310	N	1	B;B	0.31548	0.328;0.043	B;B	0.30495	0.116;0.025	T	0.32955	-0.9887	10	0.34782	T	0.22	0.304	3.6496	0.08198	0.0898:0.1478:0.4939:0.2685	.	148;241	O43281-2;O43281	.;EFS_HUMAN	V	241;148	ENSP00000216733:A241V;ENSP00000340607:A148V	ENSP00000216733:A241V	A	-	2	0	EFS	22898805	0.014000	0.17966	0.011000	0.14972	0.929000	0.56500	0.208000	0.17415	0.156000	0.19299	0.563000	0.77884	GCA		0.657	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			118	447	0	0	0	1	0	118	447				
SPNS2	124976	broad.mit.edu	37	17	4436305	4436305	+	Silent	SNP	G	G	A	rs199734993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436305G>A	ENST00000329078.3	+	7	1179	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	323					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGGCCACGTCGGCTGTCTCCT	0.667													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(967-969)tcG>tcA		spinster homolog 2 (Drosophila)		G		1,3135		0,1,1567	41.0	42.0	41.0		969	-3.9	1.0	17		41	0,7162		0,0,3581	no	coding-synonymous	SPNS2	NM_001124758.1		0,1,5148	AA,AG,GG		0.0,0.0319,0.0097		323/550	4436305	1,10297	1568	3581	5149	SO:0001819	synonymous_variant	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4436305G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.969G>A	17.37:g.4436305G>A							p.S323S	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			7	1179	+			323					B9A1T3	Silent	SNP	ENST00000329078.3	37	c.969G>A	CCDS42237.1																																																																																				0.667	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			63	292	0	0	0	1	0	63	292				
ZNF24	7572	broad.mit.edu	37	18	32920370	32920370	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32920370C>A	ENST00000261332.6	-	2	424	c.245G>T	c.(244-246)aGg>aTg	p.R82M	ZNF24_ENST00000589881.1_Missense_Mutation_p.R82M|ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CGTCTCTGGCCTGAGCCACAG	0.532																																					Colon(42;769 913 8916 19469 46270)	ENST00000589881.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(244-246)aGg>aTg		zinc finger protein 24							122.0	125.0	124.0					18																	32920370		2203	4300	6503	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32920370C>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.245G>T	18.37:g.32920370C>A	ENSP00000261332:p.Arg82Met					ZNF24_ENST00000261332.6_Missense_Mutation_p.R82M|ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M	p.R82M			P17028	ZNF24_HUMAN			1	248	-			82			SCAN box.		O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.245G>T	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800801	0.70567	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.06371	3.31;3.31	4.59	4.59	0.56863	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.56097	D	0.000028	T	0.27027	0.0662	M	0.92268	3.29	0.36671	D	0.878472	D;D	0.76494	0.999;0.985	D;P	0.64237	0.923;0.764	T	0.26710	-1.0095	10	0.56958	D	0.05	.	8.8053	0.34934	0.0:0.9001:0.0:0.0999	.	82;82	P17028-2;P17028	.;ZNF24_HUMAN	M	82	ENSP00000261332:R82M;ENSP00000382015:R82M	ENSP00000261332:R82M	R	-	2	0	ZNF24	31174368	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	1.848000	0.39309	2.563000	0.86464	0.650000	0.86243	AGG		0.532	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		96	902	1	0	6.64032e-35	1	7.9137e-35	96	902				
RASGRP1	10125	broad.mit.edu	37	15	38791016	38791016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38791016C>A	ENST00000310803.5	-	15	2029	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*|RASGRP1_ENST00000558164.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	618					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTTGGCTCCCAATGAGCAA	0.468																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1852-1854)Gga>Tga		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							111.0	109.0	109.0					15																	38791016		1873	4095	5968	SO:0001587	stop_gained	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38791016C>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1852G>T	15.37:g.38791016C>A	ENSP00000310244:p.Gly618*					RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*	p.G618*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	15	2029	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	618					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Nonsense_Mutation	SNP	ENST00000310803.5	37	c.1852G>T	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629023	0.96671	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000539159	.	.	.	5.39	5.39	0.77823	.	0.399974	0.27130	N	0.020800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.4143	19.34	0.94337	0.0:1.0:0.0:0.0	.	.	.	.	X	618;583;583;570	.	ENSP00000310244:G618X	G	-	1	0	RASGRP1	36578308	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.190000	0.65104	2.808000	0.96608	0.655000	0.94253	GGA		0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		100	434	1	0	1.31458e-49	1	1.62656e-49	100	434				
WIZ	58525	broad.mit.edu	37	19	15535824	15535824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15535824C>A	ENST00000389282.4	-	8	4413	c.4200G>T	c.(4198-4200)gaG>gaT	p.E1400D	WIZ_ENST00000599910.2_Missense_Mutation_p.E717D|WIZ_ENST00000599686.3_Missense_Mutation_p.E584D|WIZ_ENST00000545156.1_Missense_Mutation_p.E714D|WIZ_ENST00000263381.7_Missense_Mutation_p.E543D			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1400					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGCCACACAGCTCGCAGCAGG	0.687																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(4198-4200)gaG>gaT		widely interspaced zinc finger motifs							7.0	8.0	7.0					19																	15535824		2051	4168	6219	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15535824C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4200G>T	19.37:g.15535824C>A	ENSP00000373933:p.Glu1400Asp					WIZ_ENST00000263381.6_Missense_Mutation_p.E543D|WIZ_ENST00000599910.1_Missense_Mutation_p.E717D|WIZ_ENST00000599686.2_Missense_Mutation_p.E584D|WIZ_ENST00000545156.1_Missense_Mutation_p.E714D	p.E1400D			O95785	WIZ_HUMAN			8	4413	-			1400					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.4200G>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418217	0.83449	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.29142	1.58;1.58;1.58	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.112944	0.64402	D	0.000013	T	0.45498	0.1345	L	0.40543	1.245	0.46317	D	0.998986	D;P;D	0.89917	1.0;0.829;1.0	D;P;D	0.91635	0.998;0.675;0.999	T	0.31336	-0.9947	10	0.54805	T	0.06	-25.1891	12.4141	0.55483	0.0:0.9189:0.0:0.0811	.	1400;543;584	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	D	1400;543;584;714	ENSP00000373933:E1400D;ENSP00000263381:E543D;ENSP00000445824:E714D	ENSP00000263381:E543D	E	-	3	2	WIZ	15396824	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.037000	0.49775	2.614000	0.88457	0.650000	0.86243	GAG		0.687	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		10	48	1	0	7.48243e-07	1	7.73841e-07	10	48				
ZNF225	7768	broad.mit.edu	37	19	44636716	44636716	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636716A>C	ENST00000262894.6	+	5	2229	c.1949A>C	c.(1948-1950)aAa>aCa	p.K650T	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	650					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K650T(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGTAGAGAAAAACTACTTCAA	0.438																																						ENST00000262894.6																			1	Substitution - Missense(1)	p.K650T(1)	large_intestine(1)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1948-1950)aAa>aCa		zinc finger protein 225							56.0	56.0	56.0					19																	44636716		2162	4281	6443	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636716A>C	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1949A>C	19.37:g.44636716A>C	ENSP00000262894:p.Lys650Thr					ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T|ZNF225_ENST00000592780.1_3'UTR	p.K650T	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	2229	+		Prostate(69;0.0352)|all_neural(266;0.202)	650					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1949A>C	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036797	0.35893	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.21191	2.02	1.94	0.649	0.17806	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26702	0.0653	M	0.72576	2.205	0.09310	N	1	B	0.19331	0.035	B	0.32980	0.156	T	0.39961	-0.9588	9	0.72032	D	0.01	.	7.5755	0.27933	0.7293:0.2707:0.0:0.0	.	650	Q9UK10	ZN225_HUMAN	T	650;614	ENSP00000262894:K650T	ENSP00000262894:K650T	K	+	2	0	ZNF225	49328556	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.020000	0.12525	0.079000	0.16929	0.459000	0.35465	AAA		0.438	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			31	176	0	0	0	1	0	31	176				
AASS	10157	broad.mit.edu	37	7	121769556	121769556	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121769556A>G	ENST00000393376.1	-	2	341	c.246T>C	c.(244-246)gaT>gaC	p.D82D	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.D82D			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	82	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTTCAGAAATATCCTCCTGAA	0.343																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(244-246)gaT>gaC		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						62.0	66.0	65.0					7																	121769556		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121769556A>G	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.246T>C	7.37:g.121769556A>G						AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.D82D	p.D82D			Q9UDR5	AASS_HUMAN			2	341	-			82			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.246T>C	CCDS5783.1																																																																																				0.343	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		47	238	0	0	0	1	0	47	238				
NME4	4833	broad.mit.edu	37	16	449418	449418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:449418C>T	ENST00000219479.2	+	3	279	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	NME4_ENST00000382940.4_Missense_Mutation_p.R97W|DECR2_ENST00000397710.1_5'Flank|DECR2_ENST00000424398.2_5'Flank|NME4_ENST00000450036.1_Missense_Mutation_p.R19W|DECR2_ENST00000219481.5_5'Flank|NME4_ENST00000397722.1_Missense_Mutation_p.R19W	NM_005009.2	NP_005000.1	O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	89					CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				CCAGGACCTGCGGAGGAAGCC	0.632																																						ENST00000397722.1																			0				NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4						c.(55-57)Cgg>Tgg		NME/NM23 nucleoside diphosphate kinase 4							164.0	161.0	162.0					16																	449418		2202	4300	6502	SO:0001583	missense	4833				CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr16:449418C>T	Y07604	CCDS10408.1, CCDS66886.1, CCDS73797.1	16p13.3	2013-04-29	2012-05-18		ENSG00000103202	ENSG00000103202			7852	protein-coding gene	gene with protein product		601818	"""non-metastatic cells 4, protein expressed in"""			9099850, 19852809	Standard	NM_005009		Approved	nm23-H4, NM23H4, NDPKD	uc002cgz.3	O00746	OTTHUMG00000047995	ENST00000219479.2:c.265C>T	16.37:g.449418C>T	ENSP00000219479:p.Arg89Trp					NME4_ENST00000450036.1_Missense_Mutation_p.R19W|NME4_ENST00000382940.4_Missense_Mutation_p.R97W|NME4_ENST00000219479.2_Missense_Mutation_p.R89W	p.R19W			O00746	NDKM_HUMAN			3	529	+		Hepatocellular(16;0.00015)	89					A2IDD0|Q5U0M9	Missense_Mutation	SNP	ENST00000219479.2	37	c.55C>T	CCDS10408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.08|12.08	1.831977|1.831977	0.32421|0.32421	.|.	.|.	ENSG00000103202|ENSG00000103202	ENST00000433358|ENST00000397722;ENST00000454619;ENST00000219479;ENST00000382940;ENST00000450036	.|T;T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42;0.42	4.74|4.74	-0.194|-0.194	0.13240|0.13240	.|.	.|0.575824	.|0.19021	.|N	.|0.124809	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.51550	.|0.673	T|T	0.66980|0.66980	-0.5786|-0.5786	5|10	.|0.87932	.|D	.|0	-5.5321|-5.5321	13.8811|13.8811	0.63682|0.63682	0.5062:0.4938:0.0:0.0|0.5062:0.4938:0.0:0.0	.|.	.|89	.|O00746	.|NDKM_HUMAN	V|W	84|19;19;89;97;19	.|ENSP00000380834:R19W;ENSP00000406317:R19W;ENSP00000219479:R89W;ENSP00000372398:R97W;ENSP00000389048:R19W	.|ENSP00000219479:R89W	A|R	+|+	2|1	0|2	NME4|NME4	389419|389419	0.021000|0.021000	0.18746|0.18746	0.001000|0.001000	0.08648|0.08648	0.345000|0.345000	0.29048|0.29048	1.056000|1.056000	0.30480|0.30480	0.161000|0.161000	0.19458|0.19458	-0.521000|-0.521000	0.04368|0.04368	GCG|CGG		0.632	NME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109256.2	NM_005009		240	841	0	0	0	1	0	240	841				
MOB2	81532	broad.mit.edu	37	11	1492597	1492597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1492597G>A	ENST00000329957.6	-	4	607	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	109					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						TCAACGTACTGTGGGGCCGTG	0.597																																						ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(418-420)Cag>Tag		MOB kinase activator 2							110.0	126.0	121.0					11																	1492597		2166	4249	6415	SO:0001587	stop_gained	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1492597G>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.418C>T	11.37:g.1492597G>A	ENSP00000328694:p.Gln140*					MOB2_ENST00000526462.1_5'UTR	p.Q140*	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			4	607	-			109					B4DKP3|Q96M67	Nonsense_Mutation	SNP	ENST00000329957.6	37	c.418C>T	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297330	0.95574	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.34	3.39	0.38822	.	0.071849	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-41.0121	12.7035	0.57046	0.0823:0.0:0.9177:0.0	.	.	.	.	X	140	.	ENSP00000328694:Q140X	Q	-	1	0	AC091196.1	1449173	1.000000	0.71417	0.952000	0.39060	0.752000	0.42762	6.065000	0.71176	2.250000	0.74265	0.462000	0.41574	CAG		0.597	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		10	243	0	0	0	1	0	10	243				
PCDH20	64881	broad.mit.edu	37	13	61987229	61987229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61987229C>A	ENST00000409186.1	-	5	3108	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGGTGCCCACTGTAGCATTC	0.458																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1003-1005)Gtg>Ttg		protocadherin 20							91.0	93.0	92.0					13																	61987229		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987229C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1003G>T	13.37:g.61987229C>A	ENSP00000386653:p.Val335Leu					PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L	p.V335L			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3108	-		Breast(118;0.195)|Prostate(109;0.229)	308			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1003G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684406	0.14907	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59502	0.26;0.26	5.76	5.76	0.90799	.	0.114954	0.38663	N	0.001605	T	0.39306	0.1073	L	0.28115	0.83	0.30609	N	0.759682	B	0.09022	0.002	B	0.14578	0.011	T	0.29882	-0.9997	10	0.19147	T	0.46	.	6.7269	0.23361	0.0:0.686:0.1652:0.1488	.	335	A8K1K9	.	L	335;335;81	ENSP00000387250:V335L;ENSP00000386653:V335L	ENSP00000351500:V81L	V	-	1	0	PCDH20	60885230	0.990000	0.36364	1.000000	0.80357	0.648000	0.38561	2.585000	0.46111	2.732000	0.93576	0.655000	0.94253	GTG		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		72	375	1	0	6.01781e-45	1	7.37136e-45	72	375				
DCAF15	90379	broad.mit.edu	37	19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G	PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538371.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	198					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(592-594)gAt>gGt		DDB1 and CUL4 associated factor 15							29.0	27.0	28.0					19																	14067054		2201	4298	6499	SO:0001583	missense	90379							g.chr19:14067054A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.593A>G	19.37:g.14067054A>G	ENSP00000254337:p.Asp198Gly						p.D198G	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			5	614	+			198					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.593A>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.730928	0.48939	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.58	4.58	0.56647	.	0.370632	0.25065	N	0.033412	T	0.32041	0.0816	L	0.36672	1.1	0.26519	N	0.974469	B	0.30361	0.277	B	0.23419	0.046	T	0.19353	-1.0308	9	0.37606	T	0.19	-4.1699	13.2115	0.59828	1.0:0.0:0.0:0.0	.	198	Q66K64	DCA15_HUMAN	G	198	.	ENSP00000254337:D198G	D	+	2	0	DCAF15	13928054	0.997000	0.39634	0.965000	0.40720	0.960000	0.62799	3.933000	0.56545	1.826000	0.53198	0.448000	0.29417	GAT		0.667	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		38	187	0	0	0	1	0	38	187				
ATF6B	1388	broad.mit.edu	37	6	32095969	32095969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095969G>T	ENST00000375203.3	-	1	48	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	ATF6B_ENST00000375201.4_Missense_Mutation_p.L6M|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	6	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCGCTGAGCAGCATCAGCTCC	0.607																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(16-18)Ctg>Atg		activating transcription factor 6 beta							60.0	57.0	58.0					6																	32095969		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32095969G>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.16C>A	6.37:g.32095969G>T	ENSP00000364349:p.Leu6Met					ATF6B_ENST00000375203.3_Missense_Mutation_p.L6M|ATF6B_ENST00000468502.1_5'UTR	p.L6M			Q99941	ATF6B_HUMAN			1	61	-			6			Transcription activation.		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.16C>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780204	0.90195	.	.	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.64803	-0.12;0.61	5.36	5.36	0.76844	.	0.415062	0.18475	U	0.140117	T	0.71517	0.3349	M	0.64997	1.995	0.35380	D	0.789878	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.994	T	0.74315	-0.3705	10	0.72032	D	0.01	-16.4553	14.4499	0.67376	0.0:0.0:1.0:0.0	.	6;6;6	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	M	6	ENSP00000364349:L6M;ENSP00000364347:L6M	ENSP00000364338:L6M	L	-	1	2	ATF6B	32203947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	2.789000	0.95967	0.655000	0.94253	CTG		0.607	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			56	249	1	0	3.88204e-17	1	4.28066e-17	56	249				
BTAF1	9044	broad.mit.edu	37	10	93713536	93713536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93713536G>T	ENST00000265990.6	+	6	915	c.607G>T	c.(607-609)Gga>Tga	p.G203*		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	203					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTTCGAGCAGGAATGAGCAA	0.363																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(607-609)Gga>Tga		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							133.0	138.0	136.0					10																	93713536		2203	4300	6503	SO:0001587	stop_gained	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93713536G>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.607G>T	10.37:g.93713536G>T	ENSP00000265990:p.Gly203*						p.G203*	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			6	915	+		Colorectal(252;0.0846)	203					B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	37	c.607G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	40	8.164873	0.98686	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-20.5445	19.7205	0.96142	0.0:0.0:1.0:0.0	.	.	.	.	X	203	.	ENSP00000265990:G203X	G	+	1	0	BTAF1	93703516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.723000	0.93209	0.585000	0.79938	GGA		0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		141	511	1	0	3.30668e-82	1	4.23156e-82	141	511				
PSMD3	5709	broad.mit.edu	37	17	38142955	38142955	+	Missense_Mutation	SNP	G	G	A	rs142347522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38142955G>A	ENST00000264639.4	+	3	713	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AACAGCAAGCGCTACAAAGAG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20560	0.0		0.0	False		,,,				2504	0.0				Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(538-540)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	125.0	117.0	120.0		539	5.3	1.0	17	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSMD3	NM_002809.2	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	180/535	38142955	3,13003	2203	4300	6503	SO:0001583	missense	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38142955G>A	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.539G>A	17.37:g.38142955G>A	ENSP00000264639:p.Arg180His					PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	p.R180H	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN			3	713	+	Colorectal(19;0.000442)		180					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	c.539G>A	CCDS11356.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.19	3.051901	0.55218	4.54E-4	1.16E-4	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.76709	-1.04;-1.04	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.104781	0.64402	D	0.000005	T	0.69886	0.3161	L	0.31752	0.955	0.58432	D	0.999998	B	0.17667	0.023	B	0.08055	0.003	T	0.64433	-0.6409	10	0.41790	T	0.15	-5.143	18.687	0.91568	0.0:0.0:1.0:0.0	.	180	O43242	PSMD3_HUMAN	H	180;167;42	ENSP00000264639:R180H;ENSP00000442508:R42H	ENSP00000264639:R180H	R	+	2	0	PSMD3	35396481	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.417000	0.73337	2.495000	0.84180	0.462000	0.41574	CGC		0.537	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		112	540	0	0	0	1	0	112	540				
SERPINB13	5275	broad.mit.edu	37	18	61261692	61261692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61261692G>T	ENST00000344731.5	+	6	678	c.576G>T	c.(574-576)aaG>aaT	p.K192N	SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	192					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGGAGTTTAAGAAAGAAAATA	0.378																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(574-576)aaG>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 13							93.0	90.0	91.0					18																	61261692		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61261692G>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.576G>T	18.37:g.61261692G>T	ENSP00000341584:p.Lys192Asn					SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	p.K192N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			6	678	+			192					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.576G>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451689	0.26074	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.83992	-1.79;-1.56	5.73	0.181	0.15073	Serpin domain (3);	0.108239	0.41294	N	0.000918	T	0.77618	0.4157	N	0.26042	0.785	0.32915	D	0.515049	P;B;D	0.89917	0.685;0.011;1.0	B;B;D	0.87578	0.381;0.015;0.998	T	0.74990	-0.3475	10	0.06099	T	0.92	.	4.2783	0.10820	0.2794:0.0:0.2086:0.512	.	201;110;192	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	N	192;110;192	ENSP00000269489:K192N;ENSP00000341584:K192N	ENSP00000269489:K192N	K	+	3	2	SERPINB13	59412672	0.000000	0.05858	0.998000	0.56505	0.995000	0.86356	-0.849000	0.04322	0.135000	0.18707	0.655000	0.94253	AAG		0.378	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		53	319	1	0	2.81731e-22	1	3.18527e-22	53	319				
ZIC1	7545	broad.mit.edu	37	3	147128517	147128517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(616-618)gcG>gcA		Zic family member 1							42.0	45.0	44.0					3																	147128517		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128517G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.618G>A	3.37:g.147128517G>A							p.A206A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1347	+			206					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.618G>A	CCDS3136.1																																																																																				0.652	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		63	202	0	0	0	1	0	63	202				
LOC101927079	101927079	broad.mit.edu	37	15	22332609	22332609	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22332609C>T	ENST00000558896.1	+	0	416																											TAGGTCATCTCTCTTTCATTG	0.443																																						ENST00000558896.1																			0																																																			0							g.chr15:22332609C>T																													15.37:g.22332609C>T														0	416	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.443	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			96	400	0	0	0	1	0	96	400				
PCDHGA7	56108	broad.mit.edu	37	5	140764319	140764319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140764319C>T	ENST00000518325.1	+	1	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTCTTTGCGGTTGGGCTG	0.642																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1852-1854)gCg>gTg									48.0	56.0	53.0					5																	140764319		2203	4300	6503	SO:0001583	missense	0							g.chr5:140764319C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1853C>T	5.37:g.140764319C>T	ENSP00000430024:p.Ala618Val					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.A618V	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1853C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	3.265	-0.150381	0.06585	.	.	ENSG00000253537	ENST00000518325	T	0.53206	0.63	5.01	0.145	0.14829	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28134	0.0694	N	0.17278	0.47	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.19391	0.025;0.005	T	0.24190	-1.0167	9	0.72032	D	0.01	.	4.0537	0.09806	0.2449:0.4047:0.0:0.3505	.	618;618	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	618	ENSP00000430024:A618V	ENSP00000430024:A618V	A	+	2	0	PCDHGA7	140744503	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.477000	0.00985	-0.210000	0.10140	-0.123000	0.14984	GCG		0.642	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		24	428	0	0	0	1	0	24	428				
CES3	23491	broad.mit.edu	37	16	67006910	67006910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006910G>A	ENST00000303334.4	+	13	1745	c.1674G>A	c.(1672-1674)tgG>tgA	p.W558*	CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*|CES3_ENST00000543856.1_Nonsense_Mutation_p.W197*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	558						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TACAACAGTGGCACCAGAAGC	0.577																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1672-1674)tgG>tgA		carboxylesterase 3							72.0	64.0	67.0					16																	67006910		2200	4300	6500	SO:0001587	stop_gained	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006910G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1674G>A	16.37:g.67006910G>A	ENSP00000304782:p.Trp558*					CES3_ENST00000543856.1_Nonsense_Mutation_p.W197*|CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*	p.W558*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	13	1745	+		Ovarian(137;0.0563)	558					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Nonsense_Mutation	SNP	ENST00000303334.4	37	c.1674G>A	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196124	0.78902	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	.	.	.	3.54	2.58	0.30949	.	0.538057	0.14257	N	0.331073	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.5445	0.33413	0.1187:0.0:0.8813:0.0	.	.	.	.	X	558;555;197	.	ENSP00000304782:W558X	W	+	3	0	CES3	65564411	0.025000	0.19082	0.280000	0.24747	0.027000	0.11550	0.550000	0.23345	1.995000	0.58328	0.579000	0.79373	TGG		0.577	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		35	304	0	0	0	1	0	35	304				
CSAD	51380	broad.mit.edu	37	12	53565117	53565117	+	Missense_Mutation	SNP	G	G	A	rs544766547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53565117G>A	ENST00000444623.1	-	8	827	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000267085.4_Missense_Mutation_p.S214L|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|CSAD_ENST00000542115.1_3'UTR	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	187					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CACCTCCTTCGATGTGAATAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19070	0.0		0.0	False		,,,				2504	0.001				Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(640-642)tCg>tTg		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						50.0	52.0	51.0					12																	53565117		2203	4300	6503	SO:0001583	missense	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53565117G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.560C>T	12.37:g.53565117G>A	ENSP00000415485:p.Ser187Leu					CSAD_ENST00000379843.3_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000444623.1_Missense_Mutation_p.S187L	p.S214L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			8	874	-			187					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.641C>T	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281540	0.95489	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442	T;T;T	0.57273	0.41;0.41;0.41	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199464	0.44902	D	0.000412	T	0.81123	0.4757	H	0.95884	3.735	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.65443	0.933;0.935	D	0.87121	0.2191	10	0.87932	D	0	-6.8019	18.2528	0.90009	0.0:0.0:1.0:0.0	.	214;187	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	L	276;214;187;187;187;81	ENSP00000267085:S214L;ENSP00000415485:S187L;ENSP00000410648:S187L	ENSP00000267085:S214L	S	-	2	0	CSAD	51851384	1.000000	0.71417	0.475000	0.27278	0.918000	0.54935	9.131000	0.94446	2.682000	0.91365	0.655000	0.94253	TCG		0.587	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		60	256	0	0	0	1	0	60	256				
LEFTY2	7044	broad.mit.edu	37	1	226127113	226127113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226127113C>T	ENST00000366820.5	-	3	1033	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	229					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TCCCCAAGCCCGGCTGGCGCC	0.692																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(685-687)Ggg>Agg		left-right determination factor 2							13.0	15.0	14.0					1																	226127113		2198	4289	6487	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226127113C>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.685G>A	1.37:g.226127113C>T	ENSP00000355785:p.Gly229Arg					LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R	p.G229R	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			3	1033	-	Breast(184;0.197)		229					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.685G>A	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	c	7.488	0.650146	0.14516	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.68331	-0.08;-0.32	4.47	2.49	0.30216	.	0.699335	0.14840	N	0.295316	T	0.37625	0.1010	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.12041	-1.0563	10	0.20046	T	0.44	.	2.3429	0.04264	0.2456:0.4717:0.0:0.2827	.	195;229	E9PDM4;O00292	.;LFTY2_HUMAN	R	195;229	ENSP00000388009:G195R;ENSP00000355785:G229R	ENSP00000355785:G229R	G	-	1	0	LEFTY2	224193736	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.028000	0.12350	0.952000	0.37798	0.561000	0.74099	GGG		0.692	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		41	124	0	0	0	1	0	41	124				
CRNKL1	51340	broad.mit.edu	37	20	20016875	20016875	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20016875G>A	ENST00000377340.2	-	15	2542	c.2511C>T	c.(2509-2511)caC>caT	p.H837H	CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Silent_p.H676H|CRNKL1_ENST00000377327.4_Silent_p.H825H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	837					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CATCTGGATGGTGCTCAGCAT	0.413																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(2509-2511)caC>caT		crooked neck pre-mRNA splicing factor 1							175.0	150.0	158.0					20																	20016875		2203	4300	6503	SO:0001819	synonymous_variant	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20016875G>A	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2511C>T	20.37:g.20016875G>A						CRNKL1_ENST00000377327.4_Silent_p.H825H|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Silent_p.H676H	p.H837H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			15	2542	-			837					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	c.2511C>T	CCDS33446.1																																																																																				0.413	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			86	510	0	0	0	1	0	86	510				
ZNF287	57336	broad.mit.edu	37	17	16456289	16456289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16456289G>A	ENST00000395824.1	-	6	1784	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	ZNF287_ENST00000395825.3_Silent_p.T389T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	382					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTGGCATGGGTACTTTGGT	0.398																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1165-1167)acC>acT		zinc finger protein 287							167.0	156.0	160.0					17																	16456289		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456289G>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1167C>T	17.37:g.16456289G>A						ZNF287_ENST00000395825.3_Silent_p.T389T	p.T389T			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1784	-			382					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.1167C>T	CCDS11179.2																																																																																				0.398	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			160	647	0	0	0	1	0	160	647				
FOXE1	2304	broad.mit.edu	37	9	100617275	100617275	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100617275C>T	ENST00000375123.3	+	1	1740	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	360					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CGCCATGCTGCCGCTTATCCC	0.642																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1078-1080)gCc>gTc		forkhead box E1 (thyroid transcription factor 2)							19.0	21.0	21.0					9																	100617275		2183	4268	6451	SO:0001583	missense	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100617275C>T	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.1079C>T	9.37:g.100617275C>T	ENSP00000364265:p.Ala360Val						p.A360V	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1740	+		Acute lymphoblastic leukemia(62;0.158)	360					O75765|Q5T109|Q99526	Missense_Mutation	SNP	ENST00000375123.3	37	c.1079C>T	CCDS35078.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005295	0.35415	.	.	ENSG00000178919	ENST00000375123	D	0.93953	-3.32	4.78	3.86	0.44501	.	38.421700	0.01330	U	0.011232	D	0.88235	0.6382	N	0.08118	0	0.20489	N	0.999892	B	0.20052	0.041	B	0.19391	0.025	T	0.76168	-0.3058	10	0.52906	T	0.07	.	12.2963	0.54849	0.171:0.829:0.0:0.0	.	360	O00358	FOXE1_HUMAN	V	360	ENSP00000364265:A360V	ENSP00000364265:A360V	A	+	2	0	FOXE1	99657096	0.933000	0.31639	0.030000	0.17652	0.061000	0.15899	2.731000	0.47343	1.334000	0.45468	0.555000	0.69702	GCC		0.642	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			32	160	0	0	0	1	0	32	160				
NR2E1	7101	broad.mit.edu	37	6	108499328	108499328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108499328G>A	ENST00000368986.4	+	5	1233	c.525G>A	c.(523-525)atG>atA	p.M175I	NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	175					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGACCCCAATGTATCTCTATG	0.498																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(523-525)atG>atA		nuclear receptor subfamily 2, group E, member 1							109.0	101.0	104.0					6																	108499328		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108499328G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.525G>A	6.37:g.108499328G>A	ENSP00000357982:p.Met175Ile					NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	p.M175I	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	5	1233	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	175					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.525G>A	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780984	0.49891	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.90955	-2.75;-2.76	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);	0.222165	0.53938	D	0.000048	T	0.70081	0.3183	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.66705	-0.5856	10	0.21540	T	0.41	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	175	Q9Y466	NR2E1_HUMAN	I	175;212	ENSP00000357982:M175I;ENSP00000357979:M212I	ENSP00000357979:M212I	M	+	3	0	NR2E1	108606021	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.198000	0.72106	2.642000	0.89623	0.650000	0.86243	ATG		0.498	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			59	297	0	0	0	1	0	59	297				
HPCAL4	51440	broad.mit.edu	37	1	40150155	40150155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40150155C>T	ENST00000372844.3	-	2	512	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	41	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGGATGCCGCTGGGGCAG	0.622																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(121-123)Ggc>Agc		hippocalcin like 4							63.0	52.0	56.0					1																	40150155		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40150155C>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.121G>A	1.37:g.40150155C>T	ENSP00000361935:p.Gly41Ser						p.G41S	NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	512	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	41			EF-hand 1.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.121G>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704217	0.96812	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.79247	-1.25	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	H	0.98048	4.135	0.80722	D	1	P;D	0.89917	0.691;1.0	B;D	0.78314	0.195;0.991	D	0.95576	0.8642	10	0.87932	D	0	.	17.8549	0.88760	0.0:1.0:0.0:0.0	.	41;41	B4DGW9;Q9UM19	.;HPCL4_HUMAN	S	41;33	ENSP00000361935:G41S	ENSP00000361935:G41S	G	-	1	0	HPCAL4	39922742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.378000	0.81104	0.561000	0.74099	GGC		0.622	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		13	121	0	0	0	1	0	13	121				
EXOC7	23265	broad.mit.edu	37	17	74090663	74090663	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74090663C>T	ENST00000335146.7	-	6	694		c.e6-1		EXOC7_ENST00000607838.1_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site|EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCATGAAATCTGAGGAGACA	0.527																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.e6-1		exocyst complex component 7							100.0	97.0	98.0					17																	74090663		2203	4300	6503	SO:0001630	splice_region_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74090663C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.641-1G>A	17.37:g.74090663C>T						EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000335146.7_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site		NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		6	735	-								B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Splice_Site	SNP	ENST00000335146.7	37		CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274432	0.59649	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.84	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5218	0.61572	0.0:0.8435:0.1565:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC7	71602258	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	7.284000	0.78650	1.240000	0.43803	-0.312000	0.09012	.		0.527	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219	Intron	80	355	0	0	0	1	0	80	355				
ANKZF1	55139	broad.mit.edu	37	2	220100035	220100035	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100035G>A	ENST00000323348.5	+	10	1865		c.e10+1		GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Splice_Site|ANKZF1_ENST00000410034.3_Splice_Site	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTGTGCAGTGAGTAAAGG	0.522																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.e10+1		ankyrin repeat and zinc finger domain containing 1							72.0	72.0	72.0					2																	220100035		1930	4131	6061	SO:0001630	splice_region_variant	55139					intracellular	zinc ion binding	g.chr2:220100035G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1691+1G>A	2.37:g.220100035G>A						ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site		NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1865	+		Renal(207;0.0474)						Q9NVZ4	Splice_Site	SNP	ENST00000323348.5	37		CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424284	0.43020	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.245	0.65983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKZF1	219808279	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	5.630000	0.67805	2.746000	0.94184	0.655000	0.94253	.		0.522	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	Intron	10	567	0	0	0	1	0	10	567				
MAN2A2	4122	broad.mit.edu	37	15	91463007	91463007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91463007G>A	ENST00000559717.1	+	23	3902	c.3443G>A	c.(3442-3444)cGc>cAc	p.R1148H	MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R1148H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1148					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTTCGCCTCCGCTTGGGTTAG	0.527																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(3442-3444)cGc>cAc		mannosidase, alpha, class 2A, member 2							136.0	115.0	122.0					15																	91463007		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91463007G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3443G>A	15.37:g.91463007G>A	ENSP00000452948:p.Arg1148His					MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R1148H	p.R1148H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		22	3461	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		1148					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.3443G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227900	0.58777	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83419	-1.72;-1.72;-1.72	5.24	5.24	0.73138	Glycoside hydrolase-type carbohydrate-binding (1);	0.128109	0.52532	D	0.000073	T	0.78451	0.4285	L	0.52759	1.655	0.51233	D	0.99991	P;P;B	0.37636	0.603;0.603;0.051	B;B;B	0.28709	0.093;0.059;0.023	T	0.79818	-0.1643	10	0.48119	T	0.1	-29.5313	19.2433	0.93891	0.0:0.0:1.0:0.0	.	656;776;1148	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	1148;656;338	ENSP00000353655:R1148H;ENSP00000388221:R656H;ENSP00000394372:R338H	ENSP00000353655:R1148H	R	+	2	0	MAN2A2	89264011	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.440000	0.59975	2.636000	0.89361	0.555000	0.69702	CGC		0.527	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		15	389	0	0	0	1	0	15	389				
C2orf69	205327	broad.mit.edu	37	2	200790131	200790131	+	Missense_Mutation	SNP	C	C	T	rs547152139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200790131C>T	ENST00000319974.5	+	2	863	c.680C>T	c.(679-681)aCg>aTg	p.T227M	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	227						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TCTCATACTACGAATGGTTGC	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19175	0.0		0.0	False		,,,				2504	0.0					ENST00000319974.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						c.(679-681)aCg>aTg		chromosome 2 open reading frame 69							57.0	57.0	57.0					2																	200790131		1840	4101	5941	SO:0001583	missense	205327					extracellular region		g.chr2:200790131C>T		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.680C>T	2.37:g.200790131C>T	ENSP00000312770:p.Thr227Met					C2orf69_ENST00000491721.1_Intron	p.T227M	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN			2	863	+			227					Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	37	c.680C>T	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117427	0.56505	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.32	4.45	0.53987	.	0.377447	0.20781	N	0.085794	T	0.65811	0.2727	L	0.39898	1.24	0.37250	D	0.906511	D	0.76494	0.999	D	0.63033	0.91	T	0.72890	-0.4155	9	0.72032	D	0.01	-9.0066	14.2091	0.65753	0.0:0.816:0.184:0.0	.	227	Q8N8R5	CB069_HUMAN	M	227	.	ENSP00000312770:T227M	T	+	2	0	C2orf69	200498376	0.816000	0.29132	0.993000	0.49108	0.959000	0.62525	2.848000	0.48278	1.467000	0.48044	0.655000	0.94253	ACG		0.368	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		25	279	0	0	0	1	0	25	279				
ZNF702P	79986	broad.mit.edu	37	19	53474011	53474011	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53474011C>A	ENST00000600068.1	-	0	354				ZNF702P_ENST00000270443.4_RNA																							ACTTGCTTGTCTTTGCAATGT	0.393																																						ENST00000600068.1																			0																																																			0							g.chr19:53474011C>A																													19.37:g.53474011C>A						ZNF702P_ENST00000270443.4_RNA								0	354	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.393	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			76	437	1	0	2.32478e-39	1	2.81077e-39	76	437				
TICAM2	353376	broad.mit.edu	37	5	114916863	114916863	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114916863C>T	ENST00000427199.2	-	2	532	c.91G>A	c.(91-93)Gag>Aag	p.E31K	TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.E200K|TICAM2_ENST00000408996.4_Missense_Mutation_p.E200K|TICAM2_ENST00000513729.1_5'Flank	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	31					cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		GAATCTGACTCATGATATCCT	0.443																																						ENST00000408996.4																			0				cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5						c.(598-600)Gag>Aag		toll-like receptor adaptor molecule 2							129.0	128.0	128.0					5																	114916863		2202	4300	6502	SO:0001583	missense	353376							g.chr5:114916863C>T	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.91G>A	5.37:g.114916863C>T	ENSP00000415139:p.Glu31Lys					TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.E200K|TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.E31K	p.E200K	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1				OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)	4	984	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)						B3Y698|Q6JUT2	Missense_Mutation	SNP	ENST00000427199.2	37	c.598G>A	CCDS4119.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488308	0.44249	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T	0.25414	1.8;1.8	5.48	2.64	0.31445	.	0.795702	0.10953	N	0.615814	T	0.16854	0.0405	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31943	-0.9925	10	0.13108	T	0.6	.	8.9787	0.35953	0.0:0.7346:0.0:0.2654	.	200;31	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	K	200;31;200	ENSP00000386341:E200K;ENSP00000282382:E200K	ENSP00000415139:E31K	E	-	1	0	TICAM2;TMED7-TICAM2	114944762	0.000000	0.05858	0.042000	0.18584	0.046000	0.14306	0.344000	0.19962	0.767000	0.33267	0.585000	0.79938	GAG		0.443	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1	NM_021649		155	631	0	0	0	1	0	155	631				
PAPSS1	9061	broad.mit.edu	37	4	108615089	108615089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108615089G>T	ENST00000265174.4	-	3	521	c.249C>A	c.(247-249)tgC>tgA	p.C83*	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	83					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAGAGTGTAGCATGGAATAC	0.443																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(247-249)tgC>tgA		3'-phosphoadenosine 5'-phosphosulfate synthase 1							116.0	104.0	108.0					4																	108615089		2203	4300	6503	SO:0001587	stop_gained	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108615089G>T	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.249C>A	4.37:g.108615089G>T	ENSP00000265174:p.Cys83*					PAPSS1_ENST00000511304.1_Intron	p.C83*	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	3	521	-		Hepatocellular(203;0.217)	83					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Nonsense_Mutation	SNP	ENST00000265174.4	37	c.249C>A	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	G	38	6.966792	0.97967	.	.	ENSG00000138801	ENST00000265174	.	.	.	5.67	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.2707	7.7654	0.28976	0.3465:0.0:0.6535:0.0	.	.	.	.	X	83	.	ENSP00000265174:C83X	C	-	3	2	PAPSS1	108834538	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.722000	0.47269	0.633000	0.30452	0.556000	0.70494	TGC		0.443	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			40	225	1	0	6.2361e-21	1	7.00342e-21	40	225				
PSTK	118672	broad.mit.edu	37	10	124742796	124742796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124742796G>A	ENST00000368887.3	+	3	957	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	PSTK_ENST00000405485.1_Missense_Mutation_p.G173S|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	173					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AGATTCGTTGGGCTTTTGCCA	0.383																																						ENST00000405485.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13						c.(517-519)Ggc>Agc		phosphoseryl-tRNA kinase							54.0	53.0	54.0					10																	124742796		2203	4300	6503	SO:0001583	missense	118672						ATP binding|kinase activity	g.chr10:124742796G>A	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.517G>A	10.37:g.124742796G>A	ENSP00000357882:p.Gly173Ser					PSTK_ENST00000368887.3_Missense_Mutation_p.G173S|PSTK_ENST00000497219.1_3'UTR	p.G173S			Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	3	583	+		all_neural(114;0.169)|Glioma(114;0.222)	173					Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	c.517G>A	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.552661|4.552661	0.86127|0.86127	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000368887;ENST00000405485|ENST00000406217	T;T|.	0.28454|.	1.61;1.61|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77343|.	0.4116|.	M|M	0.75085|0.75085	2.285|2.285	0.50632|0.50632	D|D	0.999881|0.999881	D|.	0.65815|.	0.995|.	D|.	0.71656|.	0.974|.	T|.	0.75736|.	-0.3213|.	10|.	0.08179|.	T|.	0.78|.	-5.2141|-5.2141	18.9646|18.9646	0.92691|0.92691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173|.	Q8IV42|.	PSTK_HUMAN|.	S|X	173|173	ENSP00000357882:G173S;ENSP00000384764:G173S|.	ENSP00000357882:G173S|.	G|W	+|+	1|3	0|0	PSTK|PSTK	124732786|124732786	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.959000|0.959000	0.62525|0.62525	4.039000|4.039000	0.57325|0.57325	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.383	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		26	125	0	0	0	1	0	26	125				
PRMT3	10196	broad.mit.edu	37	11	20529951	20529951	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20529951C>A	ENST00000331079.6	+	16	1805	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	530	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AACTTATGGTCTCCAGTGAAA	0.448																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(1588-1590)Ctc>Atc		protein arginine methyltransferase 3							82.0	71.0	74.0					11																	20529951		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20529951C>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1588C>A	11.37:g.20529951C>A	ENSP00000331879:p.Leu530Ile					PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	p.L530I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			16	1805	+			530					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.1588C>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452315	0.43531	.	.	ENSG00000185238	ENST00000331079;ENST00000437750	T;T	0.32023	1.47;1.47	5.71	4.75	0.60458	.	0.056069	0.64402	D	0.000001	T	0.32675	0.0837	L	0.60845	1.875	0.53005	D	0.999961	B;B	0.18741	0.03;0.01	B;B	0.29176	0.099;0.046	T	0.13953	-1.0490	10	0.52906	T	0.07	-11.2682	11.1838	0.48644	0.1831:0.8169:0.0:0.0	.	468;530	O60678-2;O60678	.;ANM3_HUMAN	I	530;468	ENSP00000331879:L530I;ENSP00000397766:L468I	ENSP00000331879:L530I	L	+	1	0	PRMT3	20486527	0.992000	0.36948	0.977000	0.42913	0.717000	0.41224	2.991000	0.49409	2.684000	0.91462	0.650000	0.86243	CTC		0.448	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		13	249	1	0	1.52009e-12	1	1.63397e-12	13	249				
TNFSF14	8740	broad.mit.edu	37	19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T	rs202048657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6665011C>T	ENST00000599359.1	-	5	1030	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.V181I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	217					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCACACGGACGACCACCTTC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17279	0.001		0.0	False		,,,				2504	0.0					ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(541-543)Gtc>Atc		tumor necrosis factor (ligand) superfamily, member 14							158.0	129.0	139.0					19																	6665011		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665011C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.649G>A	19.37:g.6665011C>T	ENSP00000469049:p.Val217Ile					TNFSF14_ENST00000599359.1_Missense_Mutation_p.V217I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I	p.V181I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	922	-			217					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.541G>A	CCDS12171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.373441	0.42105	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.37411	1.2	4.46	3.42	0.39159	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.083570	0.47093	D	0.000244	T	0.31327	0.0793	L	0.46741	1.465	0.32364	N	0.556802	P;P	0.50943	0.94;0.861	B;B	0.42361	0.385;0.095	T	0.49143	-0.8970	10	0.51188	T	0.08	-2.5432	10.7358	0.46124	0.0:0.9045:0.0:0.0955	.	217;181	O43557;O43557-2	TNF14_HUMAN;.	I	217;181	ENSP00000326940:V181I	ENSP00000245912:V217I	V	-	1	0	TNFSF14	6616011	0.991000	0.36638	0.620000	0.29132	0.457000	0.32468	3.191000	0.50981	2.038000	0.60285	0.561000	0.74099	GTC		0.622	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			100	504	0	0	0	1	0	100	504				
ADCK1	57143	broad.mit.edu	37	14	78392209	78392209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78392209G>A	ENST00000238561.5	+	9	1210	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	378	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACTGGGAGCCGGGGATCTCTA	0.582																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(1111-1113)Ggg>Agg		aarF domain containing kinase 1							149.0	152.0	151.0					14																	78392209		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78392209G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1111G>A	14.37:g.78392209G>A	ENSP00000238561:p.Gly371Arg					ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R	p.G371R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	9	1210	+			378			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.1111G>A	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966020	0.92855	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.68181	-0.31;1.1	5.26	5.26	0.73747	.	0.049936	0.85682	D	0.000000	D	0.83894	0.5353	M	0.86805	2.84	0.80722	D	1	D;D;D	0.65815	0.995;0.99;0.992	P;P;D	0.66979	0.823;0.868;0.948	D	0.85534	0.1211	10	0.49607	T	0.09	-20.5345	18.8748	0.92331	0.0:0.0:1.0:0.0	.	378;303;371	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	R	371;303	ENSP00000238561:G371R;ENSP00000339663:G303R	ENSP00000238561:G371R	G	+	1	0	ADCK1	77461962	1.000000	0.71417	0.385000	0.26158	0.882000	0.50991	9.818000	0.99354	2.461000	0.83175	0.643000	0.83706	GGG		0.582	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		158	731	0	0	0	1	0	158	731				
SLC9A6	10479	broad.mit.edu	37	X	135067752	135067752	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135067752C>A	ENST00000370698.3	+	1	126	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.L31I|SLC9A6_ENST00000370701.1_Intron	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	31					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGTTGCTCCTCGCAGT	0.716																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(91-93)Ctc>Atc		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							26.0	28.0	27.0					X																	135067752		2203	4296	6499	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135067752C>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.91C>A	X.37:g.135067752C>A	ENSP00000359732:p.Leu31Ile					SLC9A6_ENST00000370701.1_Intron|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L31I	p.L31I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			1	126	+	Acute lymphoblastic leukemia(192;0.000127)		31					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.91C>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	c	15.28	2.786621	0.49997	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.58060	0.39;0.36	4.18	3.29	0.37713	.	0.425334	0.22521	N	0.058974	T	0.35128	0.0921	L	0.27053	0.805	0.31981	N	0.60592	B;B	0.22683	0.073;0.039	B;B	0.18561	0.022;0.014	T	0.38308	-0.9667	10	0.41790	T	0.15	.	7.4117	0.27021	0.0:0.7844:0.0:0.2156	.	31;31	Q92581-2;Q92581	.;SL9A6_HUMAN	I	31	ENSP00000359732:L31I;ENSP00000359729:L31I	ENSP00000359729:L31I	L	+	1	0	SLC9A6	134895418	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	2.741000	0.47426	1.913000	0.55393	0.373000	0.22412	CTC		0.716	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		70	217	1	0	1.2582e-26	1	1.451e-26	70	217				
CYP4B1	1580	broad.mit.edu	37	1	47279222	47279222	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279222G>A	ENST00000271153.4	+	5	600	c.564G>A	c.(562-564)gcG>gcA	p.A188A	CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A|CYP4B1_ENST00000371919.4_Silent_p.A173A			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	188					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GTCACATGGCGCTGAACACAC	0.572																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(562-564)gcG>gcA		cytochrome P450, family 4, subfamily B, polypeptide 1							107.0	103.0	105.0					1																	47279222		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279222G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.564G>A	1.37:g.47279222G>A						CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A|CYP4B1_ENST00000371919.4_Silent_p.A173A	p.A188A			P13584	CP4B1_HUMAN			5	600	+	Acute lymphoblastic leukemia(166;0.155)		188					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.564G>A	CCDS542.1																																																																																				0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		54	233	0	0	0	1	0	54	233				
PTCD3	55037	broad.mit.edu	37	2	86354302	86354302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86354302G>A	ENST00000254630.7	+	13	1036	c.970G>A	c.(970-972)Gtt>Att	p.V324I	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	324					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AAGACACATGGTTGCACAGAA	0.368																																						ENST00000254630.7																			0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(970-972)Gtt>Att		pentatricopeptide repeat domain 3							81.0	80.0	80.0					2																	86354302		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86354302G>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.970G>A	2.37:g.86354302G>A	ENSP00000254630:p.Val324Ile					PTCD3_ENST00000409277.3_3'UTR	p.V324I	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			13	1036	+			324					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.970G>A	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503453	0.44558	.	.	ENSG00000132300	ENST00000254630	T	0.30714	1.52	6.17	3.38	0.38709	.	0.778290	0.13001	N	0.421650	T	0.21550	0.0519	L	0.35341	1.055	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.03829	-1.1000	10	0.21014	T	0.42	-3.1906	8.4877	0.33082	0.1352:0.0:0.7394:0.1253	.	324	Q96EY7	PTCD3_HUMAN	I	324	ENSP00000254630:V324I	ENSP00000254630:V324I	V	+	1	0	PTCD3	86207813	0.996000	0.38824	0.978000	0.43139	0.963000	0.63663	2.311000	0.43717	0.922000	0.37019	0.655000	0.94253	GTT		0.368	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		33	271	0	0	0	1	0	33	271				
COL15A1	1306	broad.mit.edu	37	9	101747863	101747863	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101747863T>C	ENST00000375001.3	+	3	540	c.117T>C	c.(115-117)ggT>ggC	p.G39G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	39					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCCAGGGTCACCTGGACC	0.557																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(115-117)ggT>ggC		collagen, type XV, alpha 1							61.0	57.0	59.0					9																	101747863		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101747863T>C	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.117T>C	9.37:g.101747863T>C							p.G39G	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	540	+		Acute lymphoblastic leukemia(62;0.0562)	39					Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.117T>C	CCDS35081.1																																																																																				0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		25	139	0	0	0	1	0	25	139				
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	G	A	rs200402161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	135					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A135A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		9988	0.0		0.001	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - coding silent(1)	p.A135A(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(403-405)gcG>gcA		retinitis pigmentosa 1 (autosomal dominant)							27.0	32.0	30.0					8																	55533931		2186	4292	6478	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533931G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.405G>A	8.37:g.55533931G>A							p.A135A	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	553	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	135						Silent	SNP	ENST00000220676.1	37	c.405G>A	CCDS6160.1																																																																																				0.692	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		111	453	0	0	0	1	0	111	453				
LPAR5	57121	broad.mit.edu	37	12	6729583	6729583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6729583C>T	ENST00000329858.4	-	2	1588	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	LPAR5_ENST00000540335.1_5'Flank|LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACCATCAGCACCCCGCGCACG	0.692																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(832-834)Gtg>Atg		lysophosphatidic acid receptor 5							13.0	15.0	14.0					12																	6729583		2195	4284	6479	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729583C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.832G>A	12.37:g.6729583C>T	ENSP00000327875:p.Val278Met					LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M	p.V278M	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN			2	1588	-			278						Missense_Mutation	SNP	ENST00000329858.4	37	c.832G>A	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947639	0.18356	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.38560	1.13;1.13	4.89	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.251014	0.27831	N	0.017662	T	0.49949	0.1587	L	0.48260	1.515	0.23314	N	0.997925	D	0.76494	0.999	D	0.71184	0.972	T	0.34453	-0.9828	10	0.18710	T	0.47	.	8.7994	0.34898	0.0:0.7683:0.1522:0.0795	.	278	Q9H1C0	LPAR5_HUMAN	M	278	ENSP00000327875:V278M;ENSP00000393098:V278M	ENSP00000327875:V278M	V	-	1	0	LPAR5	6599844	0.049000	0.20398	0.787000	0.31911	0.365000	0.29674	3.192000	0.50989	1.232000	0.43678	0.491000	0.48974	GTG		0.692	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		14	94	0	0	0	1	0	14	94				
OBFC1	79991	broad.mit.edu	37	10	105670293	105670293	+	Missense_Mutation	SNP	C	C	A	rs147663272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105670293C>A	ENST00000224950.3	-	3	388	c.221G>T	c.(220-222)aGt>aTt	p.S74I	OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	74					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACCTCCATAACTGTAGAAAGC	0.393																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(220-222)aGt>aTt		oligonucleotide/oligosaccharide-binding fold containing 1		C	ILE/SER	0,4404		0,0,2202	129.0	114.0	119.0		221	2.4	1.0	10	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	OBFC1	NM_024928.4	142	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	74/369	105670293	1,13003	2202	4300	6502	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105670293C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.221G>T	10.37:g.105670293C>A	ENSP00000224950:p.Ser74Ile					OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I	p.S74I	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	3	388	-		Colorectal(252;0.178)	74					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.221G>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022059	0.35701	0.0	1.16E-4	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.22336	1.96;1.96	5.47	2.36	0.29203	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.159693	0.64402	N	0.000001	T	0.15955	0.0384	L	0.39245	1.2	0.41782	D	0.989827	B	0.18461	0.028	B	0.15052	0.012	T	0.06661	-1.0814	10	0.32370	T	0.25	-1.2429	9.8972	0.41327	0.4001:0.4793:0.1205:0.0	.	74	Q9H668	STN1_HUMAN	I	74	ENSP00000224950:S74I;ENSP00000358779:S74I	ENSP00000224950:S74I	S	-	2	0	OBFC1	105660283	0.976000	0.34144	0.998000	0.56505	0.779000	0.44077	0.099000	0.15210	0.750000	0.32877	0.557000	0.71058	AGT		0.393	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		42	191	1	0	9.84934e-19	1	1.0948e-18	42	191				
ATIC	471	broad.mit.edu	37	2	216211553	216211553	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216211553T>G	ENST00000236959.9	+	14	1718	c.1392T>G	c.(1390-1392)taT>taG	p.Y464*	ATIC_ENST00000435675.1_Nonsense_Mutation_p.Y463*|ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	464					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	AGGCAAACTATTGGTGGCTTA	0.453			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1387-1389)taT>taG		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						179.0	159.0	166.0					2																	216211553		2203	4300	6503	SO:0001587	stop_gained	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216211553T>G		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1392T>G	2.37:g.216211553T>G	ENSP00000236959:p.Tyr464*					ATIC_ENST00000236959.9_Nonsense_Mutation_p.Y464*|ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*	p.Y463*			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	13	1780	+		Renal(323;0.229)	464					A8K202|E9PBU3|Q13856|Q53S28	Nonsense_Mutation	SNP	ENST00000236959.9	37	c.1389T>G	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.53|16.53	3.149877|3.149877	0.57151|0.57151	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000446622;ENST00000426233|ENST00000236959;ENST00000540518;ENST00000435675	.|.	.|.	.|.	5.8|5.8	-2.44|-2.44	0.06502|0.06502	.|.	.|0.889155	.|0.09970	.|N	.|0.732367	T|.	0.56949|.	0.2020|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65713|.	-0.6101|.	3|.	.|0.46703	.|T	.|0.11	5.5651|5.5651	14.3989|14.3989	0.67029|0.67029	0.0:0.6062:0.0:0.3938|0.0:0.6062:0.0:0.3938	.|.	.|.	.|.	.|.	V|X	158;133|464;405;463	.|.	.|ENSP00000236959:Y464X	L|Y	+|+	1|3	2|2	ATIC|ATIC	215919798|215919798	0.001000|0.001000	0.12720|0.12720	0.010000|0.010000	0.14722|0.14722	0.864000|0.864000	0.49448|0.49448	-0.106000|-0.106000	0.10890|0.10890	-0.576000|-0.576000	0.05974|0.05974	-0.280000|-0.280000	0.10049|0.10049	TTG|TAT		0.453	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		182	437	0	0	0	1	0	182	437				
PSME1	5720	broad.mit.edu	37	14	24607694	24607694	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24607694G>A	ENST00000206451.6	+	10	699	c.594G>A	c.(592-594)cgG>cgA	p.R198R	RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000559123.1_Silent_p.R39R|PSME1_ENST00000561435.1_Silent_p.R198R|PSME1_ENST00000382708.3_Silent_p.R198R|EMC9_ENST00000558200.1_5'Flank	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GTGATTATCGGCAGCTGGTGC	0.607																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(592-594)cgG>cgA		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							105.0	102.0	103.0					14																	24607694		2203	4300	6503	SO:0001819	synonymous_variant	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24607694G>A		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.594G>A	14.37:g.24607694G>A						PSME1_ENST00000559123.1_Silent_p.R39R|PSME1_ENST00000206451.6_Silent_p.R198R|PSME1_ENST00000561435.1_Silent_p.R198R	p.R198R	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	10	657	+			198					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Silent	SNP	ENST00000206451.6	37	c.594G>A	CCDS9612.1																																																																																				0.607	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		14	684	0	0	0	1	0	14	684				
CAD	790	broad.mit.edu	37	2	27454442	27454442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27454442C>T	ENST00000403525.1	+	15	2349	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Silent_p.S798S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGTCAGCGATATGGTAA	0.532																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2392-2394)agC>agT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						122.0	101.0	108.0					2																	27454442		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27454442C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2205C>T	2.37:g.27454442C>T						CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Silent_p.S735S	p.S798S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			16	2556	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		798			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2394C>T																																																																																					0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			32	148	0	0	0	1	0	32	148				
PLEKHS1	79949	broad.mit.edu	37	10	115527167	115527167	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115527167T>G	ENST00000369310.3	+	4	832	c.270T>G	c.(268-270)ttT>ttG	p.F90L	PLEKHS1_ENST00000361048.1_Missense_Mutation_p.F96L|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F8L	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	90	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.																AGAAGATGTTTAAATGCCACC	0.398																																						ENST00000361048.1																			0											c.(286-288)ttT>ttG		pleckstrin homology domain containing, family S member 1							96.0	94.0	95.0					10																	115527167		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115527167T>G	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.270T>G	10.37:g.115527167T>G	ENSP00000358316:p.Phe90Leu					PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F8L|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.F90L	p.F96L	NM_024889.4	NP_079165.3					5	615	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.288T>G	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717869	0.68844	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.30714	1.52;1.52;1.52	5.74	2.19	0.27852	.	0.121823	0.56097	D	0.000026	T	0.51329	0.1668	M	0.79926	2.475	0.29865	N	0.827301	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.49872	-0.8893	10	0.45353	T	0.12	-29.0525	7.7468	0.28873	0.0:0.241:0.0:0.759	.	90;90;96	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	L	96;8;90	ENSP00000354332:F96L;ENSP00000358318:F8L;ENSP00000358316:F90L	ENSP00000354332:F96L	F	+	3	2	C10orf81	115517157	0.983000	0.35010	0.995000	0.50966	0.907000	0.53573	-0.075000	0.11431	0.133000	0.18654	-0.290000	0.09829	TTT		0.398	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		28	104	0	0	0	1	0	28	104				
NEK7	140609	broad.mit.edu	37	1	198201767	198201767	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198201767G>T	ENST00000367385.4	+	2	399	c.57G>T	c.(55-57)caG>caT	p.Q19H	NEK7_ENST00000367383.1_Splice_Site_p.Q19H|NEK7_ENST00000417895.1_3'UTR|NEK7_ENST00000538004.1_Splice_Site_p.Q19H	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	19					cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TCCAACCACAGGTAATTTATC	0.363																																						ENST00000367385.4																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.e2+1		NIMA-related kinase 7							89.0	85.0	86.0					1																	198201767		2203	4300	6503	SO:0001630	splice_region_variant	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198201767G>T	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.57+1G>T	1.37:g.198201767G>T						NEK7_ENST00000417895.1_3'UTR|NEK7_ENST00000538004.1_Splice_Site_p.Q19_splice|NEK7_ENST00000367383.1_Splice_Site_p.Q19_splice	p.Q19_splice	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN			2	399	+			19					A6NGT8	Splice_Site	SNP	ENST00000367385.4	37	c.57_splice	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760669	0.69763	.	.	ENSG00000151414	ENST00000367385;ENST00000442588;ENST00000538004;ENST00000367383;ENST00000544035;ENST00000391974	T;T;T;T;T	0.54866	1.08;1.08;0.7;0.55;3.15	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	N	0.19112	0.55	0.80722	D	1	D	0.57571	0.98	P	0.53593	0.73	T	0.52830	-0.8523	10	0.52906	T	0.07	.	15.5342	0.75990	0.0:0.0:1.0:0.0	.	19	Q8TDX7	NEK7_HUMAN	H	19	ENSP00000356355:Q19H;ENSP00000444621:Q19H;ENSP00000356353:Q19H;ENSP00000439095:Q19H;ENSP00000375835:Q19H	ENSP00000356353:Q19H	Q	+	3	2	NEK7	196468390	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.677000	0.68142	2.753000	0.94483	0.555000	0.69702	CAG		0.363	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494	Missense_Mutation	70	182	1	0	5.29578e-48	1	6.52885e-48	70	182				
C2orf16	84226	broad.mit.edu	37	2	27803149	27803149	+	Missense_Mutation	SNP	G	G	A	rs201320413		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803149G>A	ENST00000408964.2	+	1	3761	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1237						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CGAGGACAACGCAGCAGGCCT	0.478																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3709-3711)cGc>cAc		chromosome 2 open reading frame 16		G	HIS/ARG	4,3766		0,4,1881	116.0	115.0	115.0		3710	-2.0	0.0	2		115	0,8242		0,0,4121	yes	missense	C2orf16	NM_032266.3	29	0,4,6002	AA,AG,GG		0.0,0.1061,0.0333	benign	1237/1985	27803149	4,12008	1885	4121	6006	SO:0001583	missense	84226							g.chr2:27803149G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3710G>A	2.37:g.27803149G>A	ENSP00000386190:p.Arg1237His						p.R1237H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3761	+	Acute lymphoblastic leukemia(172;0.155)		1237					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3710G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159046	0.01686	0.001061	0.0	ENSG00000221843	ENST00000408964	T	0.05786	3.39	5.05	-1.97	0.07503	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48305	-0.9047	9	0.15499	T	0.54	.	6.9067	0.24313	0.2042:0.2035:0.5923:0.0	.	1237	Q68DN1	CB016_HUMAN	H	1237	ENSP00000386190:R1237H	ENSP00000386190:R1237H	R	+	2	0	C2orf16	27656653	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.725000	0.04942	-0.296000	0.08947	0.467000	0.42956	CGC		0.478	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		137	649	0	0	0	1	0	137	649				
AHRR	57491	broad.mit.edu	37	5	434085	434085	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:434085T>C	ENST00000505113.1	+	11	1286	c.1242T>C	c.(1240-1242)gaT>gaC	p.D414D	AHRR_ENST00000512529.1_Silent_p.D260D|AHRR_ENST00000506456.1_Silent_p.D270D|AHRR_ENST00000316418.5_Silent_p.D432D	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	414					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGTGAGGATGGTGCCAGGC	0.682																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1294-1296)gaT>gaC		aryl-hydrocarbon receptor repressor							36.0	48.0	44.0					5																	434085		2165	4239	6404	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434085T>C	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1242T>C	5.37:g.434085T>C						AHRR_ENST00000506456.1_Silent_p.D270D|AHRR_ENST00000505113.1_Silent_p.D414D|AHRR_ENST00000512529.1_Silent_p.D260D	p.D432D	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1340	+			414					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.1296T>C	CCDS56355.1																																																																																				0.682	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		38	163	0	0	0	1	0	38	163				
USP21	27005	broad.mit.edu	37	1	161133729	161133729	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161133729G>A	ENST00000289865.8	+	8	1397	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Silent_p.T392T|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368001.1_Silent_p.T392T|USP21_ENST00000493054.1_Intron|PPOX_ENST00000432542.2_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	392	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATCGCTCCACGACCTTCGAGG	0.552																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(1174-1176)acG>acA		ubiquitin specific peptidase 21							142.0	126.0	131.0					1																	161133729		2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161133729G>A	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1176G>A	1.37:g.161133729G>A						USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Silent_p.T392T|USP21_ENST00000368001.1_Silent_p.T392T	p.T392T	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1553	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		392					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.1176G>A	CCDS30920.1																																																																																				0.552	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			82	479	0	0	0	1	0	82	479				
SYCP2	10388	broad.mit.edu	37	20	58441580	58441580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441580C>T	ENST00000357552.3	-	40	4415	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1397					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTCATTGTTCTCAGATGTTG	0.308																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(4189-4191)aGa>aAa		synaptonemal complex protein 2							87.0	90.0	89.0					20																	58441580		2203	4298	6501	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58441580C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4190G>A	20.37:g.58441580C>T	ENSP00000350162:p.Arg1397Lys					SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K	p.R1397K			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		40	4415	-	all_lung(29;0.00344)		1397					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4190G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	0.435	-0.901495	0.02453	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.12255	2.7;2.7	5.3	-2.8	0.05823	.	1.000790	0.08062	N	0.998326	T	0.03434	0.0099	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.05721	T	0.95	-0.5713	5.3347	0.15951	0.1098:0.0882:0.5781:0.2239	.	1397	Q9BX26	SYCP2_HUMAN	K	1397;1397;83	ENSP00000360040:R1397K;ENSP00000350162:R1397K	ENSP00000350162:R1397K	R	-	2	0	SYCP2	57874975	0.528000	0.26314	0.005000	0.12908	0.516000	0.34256	0.736000	0.26130	-0.201000	0.10284	-0.484000	0.04775	AGA		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		40	217	0	0	0	1	0	40	217				
A2M	2	broad.mit.edu	37	12	9225459	9225459	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9225459C>A	ENST00000318602.7	-	30	4072	c.3765G>T	c.(3763-3765)gtG>gtT	p.V1255V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1255					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGAGAGCCACCACTGTGTCCT	0.483																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3763-3765)gtG>gtT		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						41.0	40.0	40.0					12																	9225459		2053	4236	6289	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9225459C>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3765G>T	12.37:g.9225459C>A							p.V1255V	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			30	4072	-			1255					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3765G>T	CCDS44827.1																																																																																				0.483	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		14	146	1	0	9.31168e-06	1	9.55451e-06	14	146				
MTPAP	55149	broad.mit.edu	37	10	30615489	30615489	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30615489A>G	ENST00000263063.4	-	5	899	c.856T>C	c.(856-858)Tct>Cct	p.S286P	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.S416P	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	286					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCTAACACAGACAGGATCTTC	0.423																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1246-1248)Tct>Cct		mitochondrial poly(A) polymerase							122.0	133.0	129.0					10																	30615489		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30615489A>G	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.856T>C	10.37:g.30615489A>G	ENSP00000263063:p.Ser286Pro					MTPAP_ENST00000263063.3_Missense_Mutation_p.S286P|MTPAP_ENST00000488290.1_5'UTR	p.S416P			Q9NVV4	PAPD1_HUMAN			6	1245	-			286					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1246T>C	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828915	0.90955	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.84846	2.72	0.58432	D	0.999999	D;P	0.89917	1.0;0.835	D;P	0.72338	0.977;0.616	T	0.70008	-0.4990	10	0.39692	T	0.17	-23.4236	15.3308	0.74208	1.0:0.0:0.0:0.0	.	416;286	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	P	416;286	ENSP00000350820:S416P;ENSP00000263063:S286P	ENSP00000263063:S286P	S	-	1	0	MTPAP	30655495	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.004000	0.70709	2.083000	0.62718	0.383000	0.25322	TCT		0.423	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		12	839	0	0	0	1	0	12	839				
TROAP	10024	broad.mit.edu	37	12	49719388	49719388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49719388G>A	ENST00000257909.3	+	4	518	c.442G>A	c.(442-444)Gct>Act	p.A148T	TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Missense_Mutation_p.A148T	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	148					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTAGTCTGGCTAAAAGAGT	0.597																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(442-444)Gct>Act		trophinin associated protein							54.0	59.0	57.0					12																	49719388		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49719388G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.442G>A	12.37:g.49719388G>A	ENSP00000257909:p.Ala148Thr					TROAP_ENST00000257909.3_Missense_Mutation_p.A148T	p.A148T			Q12815	TROAP_HUMAN			4	553	+			148					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.442G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532898	0.85812	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547807	T;T;T	0.21932	1.98;1.98;1.98	5.37	4.48	0.54585	.	0.000000	0.53938	D	0.000047	T	0.36441	0.0967	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.969	T	0.10222	-1.0639	10	0.87932	D	0	-10.8552	10.2384	0.43297	0.0915:0.0:0.9085:0.0	.	148;148	F8W130;Q12815	.;TROAP_HUMAN	T	148	ENSP00000447509:A148T;ENSP00000257909:A148T;ENSP00000446646:A148T	ENSP00000257909:A148T	A	+	1	0	TROAP	48005655	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.930000	0.63462	1.253000	0.44018	0.655000	0.94253	GCT		0.597	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		48	326	0	0	0	1	0	48	326				
ANXA9	8416	broad.mit.edu	37	1	150957102	150957102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150957102C>T	ENST00000368947.4	+	7	898	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	141					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAATTCTTGCCACTCGAACC	0.537																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(421-423)gCc>gTc		annexin A9							60.0	56.0	57.0					1																	150957102		2203	4300	6503	SO:0001583	missense	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150957102C>T	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.422C>T	1.37:g.150957102C>T	ENSP00000357943:p.Ala141Val						p.A141V	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	898	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		141					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	37	c.422C>T	CCDS975.2	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803796	0.70682	.	.	ENSG00000143412	ENST00000368947	T	0.03386	3.95	5.44	5.44	0.79542	.	0.279248	0.30930	N	0.008584	T	0.04182	0.0116	L	0.41124	1.26	0.39600	D	0.969713	P	0.47484	0.896	P	0.50754	0.649	T	0.46247	-0.9205	10	0.52906	T	0.07	.	15.1077	0.72334	0.0:1.0:0.0:0.0	.	141	O76027	ANXA9_HUMAN	V	141	ENSP00000357943:A141V	ENSP00000357943:A141V	A	+	2	0	ANXA9	149223726	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.899000	0.56288	2.700000	0.92200	0.655000	0.94253	GCC		0.537	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		6	177	0	0	0	1	0	6	177				
DNAH11	8701	broad.mit.edu	37	7	21640477	21640477	+	Missense_Mutation	SNP	G	G	A	rs371880343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21640477G>A	ENST00000409508.3	+	16	3215	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1062N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1062	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGTCTTCCGATGAAATGGA	0.433									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3184-3186)Gat>Aat		dynein, axonemal, heavy chain 11							148.0	140.0	143.0					7																	21640477		1923	4140	6063	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640477G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3184G>A	7.37:g.21640477G>A	ENSP00000475939:p.Asp1062Asn					DNAH11_ENST00000409508.3_Missense_Mutation_p.D1062N	p.D1062N			Q96DT5	DYH11_HUMAN			16	3215	+			1062			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3184G>A		.	.	.	.	.	.	.	.	.	.	G	13.36	2.212545	0.39102	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.43	5.43	0.79202	.	0.116822	0.56097	D	0.000036	T	0.17408	0.0418	.	.	.	0.49130	D	0.99975	P	0.36483	0.555	B	0.27500	0.08	T	0.02546	-1.1143	9	0.37606	T	0.19	.	18.013	0.89230	0.0:0.0:1.0:0.0	.	1062	Q96DT5	DYH11_HUMAN	N	1062	ENSP00000330671:D1062N	ENSP00000330671:D1062N	D	+	1	0	DNAH11	21607002	1.000000	0.71417	0.929000	0.37066	0.038000	0.13279	3.454000	0.52986	2.563000	0.86464	0.563000	0.77884	GAT		0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		133	537	0	0	0	1	0	133	537				
GSAP	54103	broad.mit.edu	37	7	76943748	76943748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76943748C>T	ENST00000257626.7	-	27	2226	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Silent_p.L37L	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	716					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CAATGCAATGCAGCAGGTTAT	0.493																																						ENST00000257626.7																			0											c.(2146-2148)ctG>ctA		gamma-secretase activating protein							112.0	112.0	112.0					7																	76943748		2027	4180	6207	SO:0001819	synonymous_variant	54103							g.chr7:76943748C>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2148G>A	7.37:g.76943748C>T						GSAP_ENST00000441833.2_Silent_p.L37L|GSAP_ENST00000440473.1_5'UTR	p.L716L	NM_017439.3	NP_059135.2					27	2226	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.2148G>A	CCDS34672.2																																																																																				0.493	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		57	255	0	0	0	1	0	57	255				
BCAT1	586	broad.mit.edu	37	12	25031471	25031471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25031471C>T	ENST00000261192.7	-	5	1029	c.503G>A	c.(502-504)gGa>gAa	p.G168E	BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	168					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CACCTCAGTTCCAATGAATGT	0.378																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(502-504)gGa>gAa		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						75.0	74.0	74.0					12																	25031471		1941	4147	6088	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25031471C>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.503G>A	12.37:g.25031471C>T	ENSP00000261192:p.Gly168Glu					BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E	p.G168E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			5	1029	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		168					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.503G>A	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156952	0.78114	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.78595	1.92;1.92;1.92;1.92;1.92;-1.19	6.17	6.17	0.99709	.	0.055262	0.64402	D	0.000001	D	0.92941	0.7754	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.79784	0.982;0.988;0.982;0.993;0.988	D	0.94436	0.7654	10	0.87932	D	0	0.7255	19.6509	0.95805	0.0:1.0:0.0:0.0	.	131;180;107;168;167	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	E	168;167;107;180;131;144	ENSP00000261192:G168E;ENSP00000440817:G167E;ENSP00000339805:G107E;ENSP00000443459:G180E;ENSP00000440827:G131E;ENSP00000438593:G144E	ENSP00000261192:G168E	G	-	2	0	BCAT1	24922738	1.000000	0.71417	0.996000	0.52242	0.237000	0.25408	6.234000	0.72326	2.941000	0.99782	0.655000	0.94253	GGA		0.378	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		12	150	0	0	0	1	0	12	150				
ABI3BP	25890	broad.mit.edu	37	3	100484701	100484701	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100484701G>T	ENST00000284322.5	-	30	2810	c.2701C>A	c.(2701-2703)Ctg>Atg	p.L901M	ABI3BP_ENST00000471714.1_Missense_Mutation_p.L1603M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	901	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTGGTTTCAGATTTTCTACT	0.368																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4807-4809)Ctg>Atg		ABI family, member 3 (NESH) binding protein							156.0	141.0	146.0					3																	100484701		1864	4101	5965	SO:0001583	missense	25890					extracellular space		g.chr3:100484701G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2701C>A	3.37:g.100484701G>T	ENSP00000284322:p.Leu901Met					ABI3BP_ENST00000284322.5_Missense_Mutation_p.L901M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M	p.L1603M			Q7Z7G0	TARSH_HUMAN			62	4916	-			901					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4807C>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514097	0.85389	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	D;D;D	0.84873	-1.91;-1.91;-1.91	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.95046	0.8182	10	0.87932	D	0	-11.0298	20.2963	0.98556	0.0:0.0:1.0:0.0	.	855;901;1603;610	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	M	1603;901;610;312;855	ENSP00000420524:L1603M;ENSP00000284322:L901M;ENSP00000373189:L855M	ENSP00000284322:L901M	L	-	1	2	ABI3BP	101967391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.566000	0.60843	2.813000	0.96785	0.655000	0.94253	CTG		0.368	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			16	53	1	0	1.15088e-07	1	1.19614e-07	16	53				
ECHDC3	79746	broad.mit.edu	37	10	11797423	11797423	+	Missense_Mutation	SNP	G	G	A	rs144927894	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11797423G>A	ENST00000379215.4	+	4	618	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	136						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ATGCACATCCGGAACCACCCC	0.537													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0					ENST00000379215.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						c.(406-408)cGg>cAg		enoyl CoA hydratase domain containing 3		G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	75.0	54.0	61.0		407	1.2	1.0	10	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ECHDC3	NM_024693.4	43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	136/304	11797423	4,13002	2203	4300	6503	SO:0001583	missense	79746					mitochondrion	catalytic activity	g.chr10:11797423G>A	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.407G>A	10.37:g.11797423G>A	ENSP00000368517:p.Arg136Gln					ECHDC3_ENST00000496136.1_3'UTR	p.R136Q	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN			4	618	+			136					Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	37	c.407G>A	CCDS7084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.169	-0.170462	0.06461	9.08E-4	0.0	ENSG00000134463	ENST00000379215;ENST00000420401;ENST00000422887	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	1.19	0.21007	Crotonase, core (1);	0.119864	0.64402	N	0.000013	T	0.34454	0.0898	N	0.05554	-0.025	0.45648	D	0.998573	B	0.12013	0.005	B	0.11329	0.006	T	0.07462	-1.0771	10	0.10902	T	0.67	.	9.3626	0.38206	0.8717:0.0:0.1283:0.0	.	136	Q96DC8	ECHD3_HUMAN	Q	136;189;63	ENSP00000368517:R136Q;ENSP00000405584:R189Q;ENSP00000398429:R63Q	ENSP00000368517:R136Q	R	+	2	0	ECHDC3	11837429	1.000000	0.71417	0.997000	0.53966	0.468000	0.32798	3.431000	0.52814	-0.001000	0.14495	-0.948000	0.02665	CGG		0.537	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		44	193	0	0	0	1	0	44	193				
FAM20A	54757	broad.mit.edu	37	17	66596565	66596565	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66596565A>G	ENST00000592554.1	-	1	965	c.243T>C	c.(241-243)gcT>gcC	p.A81A		NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	81					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGCTGCCGCCAGCCGGTTCAG	0.711																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(241-243)gcT>gcC		family with sequence similarity 20, member A							12.0	16.0	14.0					17																	66596565		2162	4240	6402	SO:0001819	synonymous_variant	54757					extracellular region		g.chr17:66596565A>G	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.243T>C	17.37:g.66596565A>G							p.A81A	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			1	965	-	Breast(10;1.64e-13)		81					B2RN47|B2RN49|Q9UF95	Silent	SNP	ENST00000592554.1	37	c.243T>C	CCDS11679.1																																																																																				0.711	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		15	115	0	0	0	1	0	15	115				
FGD6	55785	broad.mit.edu	37	12	95602826	95602826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95602826G>A	ENST00000343958.4	-	2	2457	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V	FGD6_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000546711.1_Missense_Mutation_p.A745V|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	745					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATACTCCGGTGCACAGAGGCT	0.453																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2233-2235)gCa>gTa		FYVE, RhoGEF and PH domain containing 6							106.0	100.0	102.0					12																	95602826		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95602826G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2234C>T	12.37:g.95602826G>A	ENSP00000344446:p.Ala745Val					FGD6_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000546711.1_Missense_Mutation_p.A745V	p.A745V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	2457	-			745					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2234C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485944	0.26686	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68903	-0.25;-0.36;-0.28	5.77	1.59	0.23543	.	0.284335	0.25296	N	0.031683	T	0.42562	0.1208	N	0.25647	0.755	0.09310	N	0.999995	B	0.15930	0.015	B	0.11329	0.006	T	0.11690	-1.0577	10	0.12103	T	0.63	-1.6594	2.7736	0.05341	0.2026:0.2271:0.459:0.1112	.	745	Q6ZV73	FGD6_HUMAN	V	745	ENSP00000344446:A745V;ENSP00000450342:A745V;ENSP00000449005:A745V	ENSP00000344446:A745V	A	-	2	0	FGD6	94126957	0.000000	0.05858	0.229000	0.23960	0.981000	0.71138	-0.042000	0.12063	0.308000	0.22923	0.561000	0.74099	GCA		0.453	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		43	422	0	0	0	1	0	43	422				
C5orf28	64417	broad.mit.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	162						integral component of membrane (GO:0016021)		p.R162C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388																																						ENST00000500337.2																			2	Substitution - Missense(2)	p.R162C(2)	large_intestine(1)|lung(1)	breast(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(484-486)Cgt>Tgt		chromosome 5 open reading frame 28							120.0	113.0	115.0					5																	43446488		2203	4300	6503	SO:0001583	missense	64417					integral to membrane		g.chr5:43446488G>A	AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.484C>T	5.37:g.43446488G>A	ENSP00000426067:p.Arg162Cys					C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C	p.R162C			Q0VDI3	CE028_HUMAN			5	815	-	Lung NSC(6;2.07e-05)		162					B2RDA6|Q9H6Z2	Missense_Mutation	SNP	ENST00000500337.2	37	c.484C>T	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396156	0.96009	.	.	ENSG00000151881	ENST00000500337;ENST00000537319;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	5.95	0.96441	.	0.044157	0.85682	D	0.000000	D	0.85869	0.5797	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87265	0.2282	9	0.87932	D	0	-16.6988	20.3697	0.98890	0.0:0.0:1.0:0.0	.	162	Q0VDI3	CE028_HUMAN	C	162;31;162;162;60;162	.	ENSP00000380270:R162C	R	-	1	0	C5orf28	43482245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.811000	0.96726	0.655000	0.94253	CGT		0.388	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		63	378	0	0	0	1	0	63	378				
UTP20	27340	broad.mit.edu	37	12	101689296	101689296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101689296C>A	ENST00000261637.4	+	12	1464	c.1290C>A	c.(1288-1290)tgC>tgA	p.C430*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	430					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTGAATTGCTTCTTAATTG	0.373																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1288-1290)tgC>tgA		UTP20, small subunit (SSU) processome component, homolog (yeast)							48.0	45.0	46.0					12																	101689296		2203	4300	6503	SO:0001587	stop_gained	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101689296C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1290C>A	12.37:g.101689296C>A	ENSP00000261637:p.Cys430*						p.C430*	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			12	1464	+			430					Q9H3H4	Nonsense_Mutation	SNP	ENST00000261637.4	37	c.1290C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	36	5.824714	0.96989	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.06	5.06	0.68205	.	0.250704	0.43919	D	0.000519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.3695	18.4532	0.90711	0.0:1.0:0.0:0.0	.	.	.	.	X	430	.	ENSP00000261637:C430X	C	+	3	2	UTP20	100213427	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	2.366000	0.44204	2.354000	0.79902	0.650000	0.86243	TGC		0.373	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		30	99	1	0	2.08457e-15	1	2.27777e-15	30	99				
CD33	945	broad.mit.edu	37	19	51729117	51729117	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51729117A>C	ENST00000262262.4	+	3	498	c.477A>C	c.(475-477)aaA>aaC	p.K159N	CD33_ENST00000391796.3_Missense_Mutation_p.K159N|CD33_ENST00000436584.2_Missense_Mutation_p.K32N|CD33_ENST00000421133.2_Missense_Mutation_p.K32N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	159	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCCACTCCAAAAACCTGACCT	0.597																																						ENST00000436584.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(94-96)aaA>aaC		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						83.0	87.0	86.0					19																	51729117		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51729117A>C	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.477A>C	19.37:g.51729117A>C	ENSP00000262262:p.Lys159Asn					CD33_ENST00000262262.4_Missense_Mutation_p.K159N|CD33_ENST00000421133.2_Missense_Mutation_p.K32N|CD33_ENST00000391796.3_Missense_Mutation_p.K159N	p.K32N			P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	151	+		all_neural(266;0.0199)	159			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.96A>C	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	5.940	0.357520	0.11239	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	2.66	-5.33	0.02713	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.962470	0.01326	U	0.011118	T	0.15089	0.0364	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26120	0.082;0.142;0.082	B;B;B	0.29663	0.105;0.037;0.065	T	0.19386	-1.0307	10	0.44086	T	0.13	.	5.2146	0.15336	0.2717:0.4967:0.2316:0.0	.	32;159;159	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	N	32;159;32;159	ENSP00000403331:K32N;ENSP00000262262:K159N;ENSP00000410126:K32N;ENSP00000375673:K159N	ENSP00000262262:K159N	K	+	3	2	CD33	56420929	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.755000	0.01814	-1.378000	0.02120	-0.666000	0.03841	AAA		0.597	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		126	527	0	0	0	1	0	126	527				
PLXNA2	5362	broad.mit.edu	37	1	208217871	208217871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208217871C>T	ENST00000367033.3	-	20	4613	c.3856G>A	c.(3856-3858)Gcc>Acc	p.A1286T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1286					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCCAAGGCCACACGGGAC	0.527																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3856-3858)Gcc>Acc		plexin A2							99.0	79.0	85.0					1																	208217871		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208217871C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3856G>A	1.37:g.208217871C>T	ENSP00000356000:p.Ala1286Thr						p.A1286T	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	20	4613	-			1286					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3856G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557458	0.86231	.	.	ENSG00000076356	ENST00000367033	T	0.01034	5.42	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02333	-1.1175	10	0.66056	D	0.02	.	18.2148	0.89881	0.0:1.0:0.0:0.0	.	1286	O75051	PLXA2_HUMAN	T	1286	ENSP00000356000:A1286T	ENSP00000356000:A1286T	A	-	1	0	PLXNA2	206284494	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.538000	0.82048	2.281000	0.76405	0.467000	0.42956	GCC		0.527	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		58	208	0	0	0	1	0	58	208				
METTL2A	339175	broad.mit.edu	37	17	60522267	60522267	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60522267C>T	ENST00000311506.5	+	7	915	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	293					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGCGAGATTACGGCCGCTATG	0.488																																						ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(877-879)taC>taT		methyltransferase like 2A							106.0	101.0	102.0					17																	60522267		2203	4300	6503	SO:0001819	synonymous_variant	339175						methyltransferase activity	g.chr17:60522267C>T	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.879C>T	17.37:g.60522267C>T							p.Y293Y	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		7	915	+			293					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	37	c.879C>T	CCDS45752.1																																																																																				0.488	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		36	184	0	0	0	1	0	36	184				
C5orf45	51149	broad.mit.edu	37	5	179269014	179269014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179269014G>A	ENST00000292586.6	-	5	432	c.342C>T	c.(340-342)gaC>gaT	p.D114D	C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000518235.1_Silent_p.D114D|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Silent_p.D156D|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000518219.1_Silent_p.D114D	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	114										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GTTCTTGGGAGTCCTTTTCTA	0.498																																						ENST00000518219.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(340-342)gaC>gaT		chromosome 5 open reading frame 45							261.0	281.0	274.0					5																	179269014		2203	4300	6503	SO:0001819	synonymous_variant	51149							g.chr5:179269014G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.342C>T	5.37:g.179269014G>A						C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000403396.2_Silent_p.D156D|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000292586.6_Silent_p.D114D|C5orf45_ENST00000518235.1_Silent_p.D114D	p.D114D			Q6NTE8	CE045_HUMAN			5	353	-			114					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	37	c.342C>T	CCDS34319.1																																																																																				0.498	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		454	2080	0	0	0	1	0	454	2080				
HSPA4L	22824	broad.mit.edu	37	4	128715243	128715243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128715243C>T	ENST00000296464.4	+	2	530	c.119C>T	c.(118-120)tCa>tTa	p.S40L	HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	40					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCTGTATATCATTGGGATCA	0.328																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(118-120)tCa>tTa		heat shock 70kDa protein 4-like							144.0	146.0	146.0					4																	128715243		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128715243C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.119C>T	4.37:g.128715243C>T	ENSP00000296464:p.Ser40Leu					HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L|HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L	p.S40L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			2	530	+			40					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.119C>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558041	0.86231	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01599	5.34;5.34;5.34;4.74;5.34	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	M	0.89095	3.005	0.80722	D	1	B;B;B	0.34147	0.438;0.124;0.124	B;B;B	0.41946	0.371;0.068;0.068	T	0.00849	-1.1541	10	0.72032	D	0.01	.	15.7735	0.78190	0.0:1.0:0.0:0.0	.	14;40;40	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	L	40;71;40;40;14	ENSP00000422482:S40L;ENSP00000393926:S71L;ENSP00000296464:S40L;ENSP00000427305:S40L;ENSP00000425645:S14L	ENSP00000296464:S40L	S	+	2	0	HSPA4L	128934693	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.899000	0.75682	2.385000	0.81259	0.561000	0.74099	TCA		0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		118	609	0	0	0	1	0	118	609				
OR14K1	343170	broad.mit.edu	37	1	247902511	247902511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247902511G>A	ENST00000283225.2	+	1	595	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TGTCAGTGTGGCCATTGGGGT	0.408																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(595-597)Gcc>Acc		olfactory receptor, family 14, subfamily K, member 1							293.0	292.0	292.0					1																	247902511		2047	4192	6239	SO:0001583	missense	343170							g.chr1:247902511G>A	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.595G>A	1.37:g.247902511G>A	ENSP00000283225:p.Ala199Thr					RP11-634B7.4_ENST00000449298.1_RNA	p.A199T							1	595	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.595G>A		.	.	.	.	.	.	.	.	.	.	G	11.01	1.513062	0.27123	.	.	ENSG00000153230	ENST00000283225	T	0.00130	8.69	3.81	-1.92	0.07618	.	1.043090	0.07745	N	0.947559	T	0.00144	0.0004	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.04976	-1.0914	7	0.28530	T	0.3	.	10.2451	0.43336	0.5362:0.0:0.4638:0.0	.	.	.	.	T	199	ENSP00000283225:A199T	ENSP00000283225:A199T	A	+	1	0	OR14K1	245969134	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-3.743000	0.00378	-0.641000	0.05487	-1.284000	0.01376	GCC		0.408	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		161	633	0	0	0	1	0	161	633				
SPTBN5	51332	broad.mit.edu	37	15	42178435	42178435	+	Missense_Mutation	SNP	C	C	A	rs201188418		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178435C>A	ENST00000320955.6	-	7	1245	c.1018G>T	c.(1018-1020)Gcc>Tcc	p.A340S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	340					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCGCATGGCGGGCAGCGAG	0.642																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1018-1020)Gcc>Tcc		spectrin, beta, non-erythrocytic 5							26.0	30.0	28.0					15																	42178435		1993	4194	6187	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178435C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1018G>T	15.37:g.42178435C>A	ENSP00000317790:p.Ala340Ser						p.A340S	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	7	1245	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	340						Missense_Mutation	SNP	ENST00000320955.6	37	c.1018G>T		.	.	.	.	.	.	.	.	.	.	C	16.38	3.108347	0.56291	.	.	ENSG00000137877	ENST00000320955	T	0.67345	-0.26	4.59	4.59	0.56863	.	0.194188	0.34676	N	0.003762	T	0.69672	0.3137	L	0.47716	1.5	0.22933	N	0.998543	D	0.58970	0.984	P	0.54026	0.74	T	0.62450	-0.6852	10	0.20519	T	0.43	.	17.0227	0.86438	0.0:1.0:0.0:0.0	.	340	Q9NRC6	SPTN5_HUMAN	S	340	ENSP00000317790:A340S	ENSP00000317790:A340S	A	-	1	0	SPTBN5	39965727	0.155000	0.22806	0.885000	0.34714	0.005000	0.04900	4.154000	0.58125	2.102000	0.63906	0.561000	0.74099	GCC		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		46	214	1	0	1.61004e-24	1	1.84098e-24	46	214				
MEX3B	84206	broad.mit.edu	37	15	82335787	82335787	+	Missense_Mutation	SNP	G	G	A	rs369068173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335787G>A	ENST00000329713.4	-	2	1859	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	475					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAGCCCGTTGGCATAAGCGGC	0.697																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(1423-1425)gCc>gTc		mex-3 RNA binding family member B		G	VAL/ALA	1,4311		0,1,2155	23.0	22.0	22.0		1424	4.5	1.0	15		22	0,8450		0,0,4225	no	missense	MEX3B	NM_032246.3	64	0,1,6380	AA,AG,GG		0.0,0.0232,0.0078	benign	475/570	82335787	1,12761	2156	4225	6381	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82335787G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1424C>T	15.37:g.82335787G>A	ENSP00000329918:p.Ala475Val					MEX3B_ENST00000558133.1_3'UTR	p.A475V	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1859	-			475					Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.1424C>T	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555080	0.13436	2.32E-4	0.0	ENSG00000183496	ENST00000329713	T	0.23950	1.88	4.5	4.5	0.54988	.	0.375112	0.23532	N	0.047161	T	0.14614	0.0353	N	0.08118	0	0.80722	D	1	B	0.25007	0.116	B	0.24006	0.05	T	0.10567	-1.0624	10	0.23302	T	0.38	-13.7427	16.1323	0.81449	0.0:0.0:1.0:0.0	.	475	Q6ZN04	MEX3B_HUMAN	V	475	ENSP00000329918:A475V	ENSP00000329918:A475V	A	-	2	0	MEX3B	80122842	0.998000	0.40836	0.998000	0.56505	0.614000	0.37383	4.819000	0.62664	2.333000	0.79357	0.561000	0.74099	GCC		0.697	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		8	47	0	0	0	1	0	8	47				
TNIK	23043	broad.mit.edu	37	3	170928948	170928948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170928948G>T	ENST00000436636.2	-	4	607	c.263C>A	c.(262-264)gCt>gAt	p.A88D	TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D|TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGATAAAAGCACCATAGTA	0.353																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(262-264)gCt>gAt		TRAF2 and NCK interacting kinase							120.0	117.0	118.0					3																	170928948		1831	4093	5924	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170928948G>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.263C>A	3.37:g.170928948G>T	ENSP00000399511:p.Ala88Asp					TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D|TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D	p.A88D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		4	607	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		88			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.263C>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314813	0.95655	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.66560	2.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.991;0.997;0.998;0.992;0.997;0.997;0.998;0.998	T	0.81854	-0.0741	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	88;88;88;88;88;88;88;88	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	D	88;88;88;88;88;88;88;88;88;88;62	ENSP00000399511:A88D;ENSP00000358332:A88D;ENSP00000443278:A88D;ENSP00000345352:A88D;ENSP00000284483:A88D;ENSP00000418156:A88D;ENSP00000349880:A88D;ENSP00000418916:A88D;ENSP00000418378:A88D;ENSP00000419990:A88D;ENSP00000417338:A62D	ENSP00000284483:A88D	A	-	2	0	TNIK	172411642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCT		0.353	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		45	204	1	0	3.43241e-23	1	3.89856e-23	45	204				
OR4M1	441670	broad.mit.edu	37	14	20248580	20248580	+	Silent	SNP	C	C	A	rs546810415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20248580C>A	ENST00000315957.4	+	1	180	c.99C>A	c.(97-99)tcC>tcA	p.S33S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTCTATCCTTCTATTTGT	0.413													.|||	1	0.000199681	0.0	0.0	5008	,	,		25304	0.001		0.0	False		,,,				2504	0.0					ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(97-99)tcC>tcA		olfactory receptor, family 4, subfamily M, member 1							200.0	216.0	210.0					14																	20248580		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248580C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.99C>A	14.37:g.20248580C>A							p.S33S	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	180	+	all_cancers(95;0.00108)		33					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.99C>A	CCDS32021.1																																																																																				0.413	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			185	1343	1	0	2.68655e-49	1	3.32282e-49	185	1343				
MBTPS1	8720	broad.mit.edu	37	16	84129262	84129262	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84129262C>T	ENST00000343411.3	-	4	1065	c.570G>A	c.(568-570)ccG>ccA	p.P190P	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	190					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAACCTGGCGCGGGATGGCTC	0.582																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(568-570)ccG>ccA		membrane-bound transcription factor peptidase, site 1							91.0	80.0	84.0					16																	84129262		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84129262C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.570G>A	16.37:g.84129262C>T							p.P190P	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			4	1065	-			190					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.570G>A	CCDS10941.1																																																																																				0.582	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		10	623	0	0	0	1	0	10	623				
HEATR5B	54497	broad.mit.edu	37	2	37268381	37268381	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37268381A>G	ENST00000233099.5	-	19	2846	c.2751T>C	c.(2749-2751)ggT>ggC	p.G917G	HEATR5B_ENST00000354531.2_Silent_p.G917G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	917						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GATGCAAACAACCAAGAGCCA	0.428																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2749-2751)ggT>ggC		HEAT repeat containing 5B							180.0	156.0	164.0					2																	37268381		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37268381A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2751T>C	2.37:g.37268381A>G						HEATR5B_ENST00000354531.2_Silent_p.G917G	p.G917G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			19	2846	-		all_hematologic(82;0.21)	917					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2751T>C	CCDS33181.1																																																																																				0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		132	408	0	0	0	1	0	132	408				
PKMYT1	9088	broad.mit.edu	37	16	3026775	3026775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3026775C>A	ENST00000262300.8	-	3	776	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PKMYT1_ENST00000431515.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	90					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGCAGAGTCTCTGAGGCCTCG	0.667																																						ENST00000431515.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(268-270)Gag>Tag		protein kinase, membrane associated tyrosine/threonine 1							11.0	11.0	11.0					16																	3026775		2184	4297	6481	SO:0001587	stop_gained	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3026775C>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.268G>T	16.37:g.3026775C>A	ENSP00000262300:p.Glu90*					PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000262300.8_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*	p.E90*			Q99640	PMYT1_HUMAN			3	653	-			90					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_Mutation	SNP	ENST00000262300.8	37	c.268G>T	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119419	0.77323	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	.	.	.	5.78	4.83	0.62350	.	0.598474	0.18049	N	0.153369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-8.655	12.6587	0.56801	0.0:0.92:0.0:0.08	.	.	.	.	X	90;90;90;90;81	.	ENSP00000262300:E90X	E	-	1	0	PKMYT1	2966776	0.035000	0.19736	0.176000	0.23000	0.070000	0.16714	1.081000	0.30791	1.436000	0.47453	-0.140000	0.14226	GAG		0.667	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		23	53	1	0	5.35356e-11	1	5.69577e-11	23	53				
FPR3	2359	broad.mit.edu	37	19	52327369	52327369	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52327369G>A	ENST00000339223.4	+	2	547	c.368G>A	c.(367-369)cGc>cAc	p.R123H	FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	123					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTCTGGACCGCTGTATTTGT	0.478																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(367-369)cGc>cAc		formyl peptide receptor 3							92.0	77.0	82.0					19																	52327369		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327369G>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.368G>A	19.37:g.52327369G>A	ENSP00000341821:p.Arg123His					FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	p.R123H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	547	+			123						Missense_Mutation	SNP	ENST00000339223.4	37	c.368G>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.850699	0.32699	.	.	ENSG00000187474	ENST00000339223	D	0.97161	-4.27	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.97297	0.9116	M	0.91406	3.205	0.32098	N	0.590994	B	0.30605	0.287	B	0.40228	0.323	D	0.99869	1.1094	10	0.56958	D	0.05	.	10.3497	0.43927	0.0:0.0:1.0:0.0	.	123	P25089	FPR3_HUMAN	H	123	ENSP00000341821:R123H	ENSP00000341821:R123H	R	+	2	0	FPR3	57019181	1.000000	0.71417	0.967000	0.41034	0.071000	0.16799	4.369000	0.59511	1.323000	0.45263	0.467000	0.42956	CGC		0.478	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		40	371	0	0	0	1	0	40	371				
ASIC2	40	broad.mit.edu	37	17	32483386	32483386	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32483386G>T	ENST00000359872.6	-	1	927	c.166C>A	c.(166-168)Ctg>Atg	p.L56M		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	56					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TCCACCAGCAGCAGGCCCAGA	0.607																																						ENST00000359872.6																			0											c.(166-168)Ctg>Atg		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						48.0	53.0	52.0					17																	32483386		2198	4297	6495	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483386G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.166C>A	17.37:g.32483386G>T	ENSP00000352934:p.Leu56Met						p.L56M	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	927	-			56					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.166C>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279592	0.59758	.	.	ENSG00000108684	ENST00000359872	T	0.66280	-0.2	4.96	4.96	0.65561	.	.	.	.	.	T	0.75413	0.3846	M	0.65975	2.015	0.54753	D	0.999982	D	0.76494	0.999	D	0.74348	0.983	T	0.71563	-0.4555	9	0.24483	T	0.36	.	15.7471	0.77955	0.0:0.0:1.0:0.0	.	56	Q16515	ACCN1_HUMAN	M	56	ENSP00000352934:L56M	ENSP00000352934:L56M	L	-	1	2	ACCN1	29507499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.559000	0.86315	0.655000	0.94253	CTG		0.607	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		6	271	1	0	0.0215528	1	0.0216335	6	271				
BAZ2A	11176	broad.mit.edu	37	12	57005806	57005806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57005806C>T	ENST00000551812.1	-	6	1559	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	BAZ2A_ENST00000179765.5_Missense_Mutation_p.A424T|BAZ2A_ENST00000549884.1_Missense_Mutation_p.A454T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	456					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A456T(2)|p.A492T(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTAGAAGCTGCGGGACAAACT	0.562																																						ENST00000179765.5																			3	Substitution - Missense(3)	p.A456T(2)|p.A492T(1)	endometrium(3)	breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1270-1272)Gca>Aca		bromodomain adjacent to zinc finger domain, 2A							67.0	72.0	70.0					12																	57005806		1919	4149	6068	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57005806C>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1366G>A	12.37:g.57005806C>T	ENSP00000446880:p.Ala456Thr					BAZ2A_ENST00000549884.1_Missense_Mutation_p.A454T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T|BAZ2A_ENST00000551812.1_Missense_Mutation_p.A456T	p.A424T			Q9UIF9	BAZ2A_HUMAN			7	1469	-			456					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1270G>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	7.414	0.635326	0.14322	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.85	2.97	0.34412	.	0.421480	0.19413	N	0.114887	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	P;B	0.34837	0.472;0.185	B;B	0.21151	0.033;0.019	T	0.11275	-1.0594	10	0.15066	T	0.55	.	5.0732	0.14617	0.2041:0.6891:0.0:0.1068	.	454;456	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	T	426;424;456;454	ENSP00000368754:A426T;ENSP00000179765:A424T;ENSP00000446880:A456T;ENSP00000447941:A454T	ENSP00000179765:A424T	A	-	1	0	BAZ2A	55292073	0.997000	0.39634	0.980000	0.43619	0.018000	0.09664	1.540000	0.36115	1.239000	0.43787	-0.194000	0.12790	GCA		0.562	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		19	102	0	0	0	1	0	19	102				
FBN2	2201	broad.mit.edu	37	5	127705025	127705025	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127705025T>C	ENST00000508053.1	-	22	3072	c.2098A>G	c.(2098-2100)Act>Gct	p.T700A	Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.T700A|FBN2_ENST00000508989.1_Missense_Mutation_p.T667A			P35556	FBN2_HUMAN	fibrillin 2	700					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCATGTGAGTATCTAAAGGA	0.468																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(2098-2100)Act>Gct		fibrillin 2							116.0	90.0	99.0					5																	127705025		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127705025T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2098A>G	5.37:g.127705025T>C	ENSP00000424571:p.Thr700Ala					FBN2_ENST00000508989.1_Missense_Mutation_p.T667A|FBN2_ENST00000262464.4_Missense_Mutation_p.T700A|FBN2_ENST00000511489.1_5'UTR	p.T700A			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	22	3072	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	700					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2098A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748941	0.69533	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92647	-3.08;-3.08;-2.72	4.35	4.35	0.52113	Matrix fibril-associated (2);	0.000000	0.64402	D	0.000003	D	0.94159	0.8126	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.76494	0.999;0.984	D;D	0.70487	0.969;0.956	D	0.93537	0.6874	10	0.40728	T	0.16	.	14.5886	0.68347	0.0:0.0:0.0:1.0	.	667;700	D6RJI3;P35556	.;FBN2_HUMAN	A	700;700;667	ENSP00000262464:T700A;ENSP00000424571:T700A;ENSP00000425596:T667A	ENSP00000262464:T700A	T	-	1	0	FBN2	127732924	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.825000	0.86693	2.186000	0.69663	0.533000	0.62120	ACT		0.468	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		37	150	0	0	0	1	0	37	150				
C1QTNF6	114904	broad.mit.edu	37	22	37578293	37578293	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578293A>G	ENST00000337843.2	-	3	847	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	239	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGTTGCTGTAGATGGCGTTC	0.642																																						ENST00000337843.2																			0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(772-774)Tac>Cac		C1q and tumor necrosis factor related protein 6							80.0	71.0	74.0					22																	37578293		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37578293A>G	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.772T>C	22.37:g.37578293A>G	ENSP00000338812:p.Tyr258His					C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H|C1QTNF6_ENST00000470655.1_5'UTR	p.Y258H	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN			3	847	-			239			C1q.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.772T>C	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063942	0.55432	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.76316	-1.01;-1.01;-1.01	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.73217	2.22	0.58432	D	0.999995	D;D	0.60575	0.959;0.988	P;P	0.61722	0.749;0.893	D	0.83886	0.0282	10	0.31617	T	0.26	.	14.6139	0.68534	1.0:0.0:0.0:0.0	.	258;239	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	H	258;258;134	ENSP00000380299:Y258H;ENSP00000338812:Y258H;ENSP00000255836:Y134H	ENSP00000255836:Y134H	Y	-	1	0	C1QTNF6	35908239	1.000000	0.71417	0.958000	0.39756	0.141000	0.21300	9.326000	0.96389	1.855000	0.53841	0.459000	0.35465	TAC		0.642	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		46	194	0	0	0	1	0	46	194				
GPRASP1	9737	broad.mit.edu	37	X	101912585	101912585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912585C>T	ENST00000361600.5	+	5	4545	c.3744C>T	c.(3742-3744)agC>agT	p.S1248S	GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000537097.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.S1248S	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1248	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S1248_D1250delSVD(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGCTTATAGCGTGGATTCCC	0.408																																						ENST00000537097.1																			1	Deletion - In frame(1)	p.S1248_D1250delSVD(1)	prostate(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3742-3744)agC>agT		G protein-coupled receptor associated sorting protein 1							98.0	86.0	90.0					X																	101912585		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101912585C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3744C>T	X.37:g.101912585C>T						GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000444152.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.S1248S	p.S1248S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4557	+			1248			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.3744C>T	CCDS35352.1																																																																																				0.408	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		17	509	0	0	0	1	0	17	509				
AGRN	375790	broad.mit.edu	37	1	979372	979372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:979372C>T	ENST00000379370.2	+	10	2018	c.1968C>T	c.(1966-1968)atC>atT	p.I656I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	656	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGACACAGATCGAGGAGGCCC	0.697																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1966-1968)atC>atT		agrin																																				SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:979372C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1968C>T	1.37:g.979372C>T							p.I656I	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	10	2018	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	656			Kazal-like 7.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.1968C>T	CCDS30551.1																																																																																				0.697	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		13	113	0	0	0	1	0	13	113				
MUC16	94025	broad.mit.edu	37	19	9015664	9015664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9015664C>T	ENST00000397910.4	-	29	38362	c.38159G>A	c.(38158-38160)gGc>gAc	p.G12720D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12722	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			H -> C (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCTGGAGCCAGGGCAATG	0.547																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38158-38160)gGc>gAc		mucin 16, cell surface associated							191.0	170.0	177.0					19																	9015664		2009	4165	6174	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015664C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38159G>A	19.37:g.9015664C>T	ENSP00000381008:p.Gly12720Asp						p.G12720D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			29	38362	-			12722	H -> C (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38159G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	11.83	1.754823	0.31046	.	.	ENSG00000181143	ENST00000397910	T	0.62941	-0.01	3.44	2.36	0.29203	.	.	.	.	.	T	0.74458	0.3719	M	0.73430	2.235	.	.	.	D	0.76494	0.999	D	0.91635	0.999	T	0.78947	-0.2003	8	0.87932	D	0	.	7.2608	0.26201	0.0:0.8579:0.0:0.1421	.	12720	B5ME49	.	D	12720	ENSP00000381008:G12720D	ENSP00000381008:G12720D	G	-	2	0	MUC16	8876664	0.000000	0.05858	0.016000	0.15963	0.103000	0.19146	0.069000	0.14552	1.616000	0.50265	0.305000	0.20034	GGC		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		121	576	0	0	0	1	0	121	576				
BIRC2	329	broad.mit.edu	37	11	102220830	102220830	+	Missense_Mutation	SNP	A	A	G	rs375296936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102220830A>G	ENST00000227758.2	+	2	1644	c.245A>G	c.(244-246)aAa>aGa	p.K82R	BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.K61R	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	82					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GACAAGGTCAAATGCTTCTGT	0.428																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(244-246)aAa>aGa		baculoviral IAP repeat containing 2		A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	100.0	98.0	98.0		245	3.3	1.0	11		98	0,8598		0,0,4299	no	missense	BIRC2	NM_001166.3	26	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	benign	82/619	102220830	1,13003	2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102220830A>G	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.245A>G	11.37:g.102220830A>G	ENSP00000227758:p.Lys82Arg					BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.K61R|BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R	p.K82R	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	1644	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	82					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.245A>G	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.927061	0.52759	2.27E-4	0.0	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.65	3.35	0.38373	Baculoviral inhibition of apoptosis protein repeat (5);	0.180898	0.64402	N	0.000010	T	0.57666	0.2069	N	0.17723	0.515	0.41648	D	0.989116	B	0.28350	0.208	B	0.36766	0.232	T	0.53968	-0.8363	10	0.46703	T	0.11	-4.2378	9.2562	0.37584	0.8532:0.0:0.1468:0.0	.	82	Q13490	BIRC2_HUMAN	R	33;82;82;61;61	ENSP00000431723:K33R;ENSP00000227758:K82R;ENSP00000434979:K61R;ENSP00000434708:K61R	ENSP00000227758:K82R	K	+	2	0	BIRC2	101726040	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.930000	0.48924	0.567000	0.29293	0.533000	0.62120	AAA		0.428	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		76	376	0	0	0	1	0	76	376				
WDR43	23160	broad.mit.edu	37	2	29135533	29135533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29135533G>A	ENST00000407426.3	+	4	619	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	SNORD92_ENST00000585078.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	188						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TCAGCTGGTCGAACAATCAAA	0.378																																						ENST00000407426.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(562-564)cGa>cAa		WD repeat domain 43							118.0	112.0	114.0					2																	29135533		1849	4096	5945	SO:0001583	missense	23160					nucleolus		g.chr2:29135533G>A	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.563G>A	2.37:g.29135533G>A	ENSP00000384302:p.Arg188Gln						p.R188Q	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN			4	619	+	Acute lymphoblastic leukemia(172;0.155)		188					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.563G>A	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784285	0.90282	.	.	ENSG00000163811	ENST00000407426;ENST00000440983;ENST00000296126	T;T;T	0.70869	-0.01;-0.01;-0.52	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.256459	0.37348	N	0.002124	T	0.72914	0.3520	L	0.43923	1.385	0.43559	D	0.995872	D	0.60160	0.987	P	0.49597	0.616	T	0.71784	-0.4488	10	0.41790	T	0.15	-7.3855	20.0896	0.97814	0.0:0.0:1.0:0.0	.	188	Q15061	WDR43_HUMAN	Q	188;99;7	ENSP00000384302:R188Q;ENSP00000415355:R99Q;ENSP00000296126:R7Q	ENSP00000296126:R7Q	R	+	2	0	WDR43	28989037	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.796000	0.69080	2.741000	0.93983	0.650000	0.86243	CGA		0.378	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		93	263	0	0	0	1	0	93	263				
MED8	112950	broad.mit.edu	37	1	43853238	43853238	+	Missense_Mutation	SNP	G	G	A	rs377550699		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43853238G>A	ENST00000372457.4	-	3	249	c.206C>T	c.(205-207)cCg>cTg	p.P69L	RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000372450.4_5'Flank|SZT2_ENST00000562955.1_5'Flank|MED8_ENST00000372455.4_5'UTR|SZT2_ENST00000310739.4_5'Flank|MED8_ENST00000290663.6_Missense_Mutation_p.P69L	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	69					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGAACAGCGGTGTTTTTTC	0.463																																						ENST00000372457.4																			0				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9						c.(205-207)cCg>cTg		mediator complex subunit 8		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	152.0	147.0	149.0		206,206	5.8	1.0	1		149	0,8600		0,0,4300	no	missense,missense	MED8	NM_052877.3,NM_201542.3	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	69/302,69/269	43853238	1,13005	2203	4300	6503	SO:0001583	missense	112950				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr1:43853238G>A	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.206C>T	1.37:g.43853238G>A	ENSP00000361535:p.Pro69Leu					MED8_ENST00000372455.4_5'UTR|MED8_ENST00000290663.6_Missense_Mutation_p.P69L|RP1-92O14.6_ENST00000436713.1_RNA	p.P69L	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN			3	249	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	69					A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	c.206C>T	CCDS487.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043288	0.93685	2.27E-4	0.0	ENSG00000159479	ENST00000290663;ENST00000372457	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.83297	-0.0030	9	0.66056	D	0.02	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	69;69	Q96G25;Q96G25-2	MED8_HUMAN;.	L	69	.	ENSP00000290663:P69L	P	-	2	0	MED8	43625825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.804000	0.99143	2.769000	0.95229	0.655000	0.94253	CCG		0.463	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		19	272	0	0	0	1	0	19	272				
ALDH1B1	219	broad.mit.edu	37	9	38396312	38396312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:38396312G>A	ENST00000377698.3	+	2	720	c.567G>A	c.(565-567)ttG>ttA	p.L189L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	189					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		ACTTCCCCTTGGTCATGCAGG	0.592																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(565-567)ttG>ttA		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						84.0	82.0	83.0					9																	38396312		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396312G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.567G>A	9.37:g.38396312G>A							p.L189L	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	720	+			189					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.567G>A	CCDS6615.1																																																																																				0.592	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			97	460	0	0	0	1	0	97	460				
PRSS12	8492	broad.mit.edu	37	4	119203366	119203366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203366C>A	ENST00000296498.3	-	13	2635	c.2353G>T	c.(2353-2355)Gcc>Tcc	p.A785S	SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	785	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGGGAATGGCTGCTTGTTGT	0.433																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2353-2355)Gcc>Tcc		protease, serine, 12 (neurotrypsin, motopsin)							133.0	129.0	130.0					4																	119203366		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119203366C>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2353G>T	4.37:g.119203366C>A	ENSP00000296498:p.Ala785Ser						p.A785S	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			13	2635	-			785			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2353G>T	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361803	0.24684	.	.	ENSG00000164099	ENST00000296498	D	0.88277	-2.36	6.08	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254753	0.44902	D	0.000414	T	0.69940	0.3167	N	0.01515	-0.825	0.35163	D	0.770848	P	0.36354	0.549	B	0.33295	0.161	T	0.76022	-0.3111	10	0.06757	T	0.87	.	15.609	0.76699	0.0:0.9342:0.0:0.0658	.	785	P56730	NETR_HUMAN	S	785	ENSP00000296498:A785S	ENSP00000296498:A785S	A	-	1	0	PRSS12	119422814	0.936000	0.31750	1.000000	0.80357	0.991000	0.79684	1.336000	0.33850	1.586000	0.49944	0.591000	0.81541	GCC		0.433	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			83	408	1	0	2.16136e-38	1	2.60442e-38	83	408				
CACNA1I	8911	broad.mit.edu	37	22	40060787	40060787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060787G>A	ENST00000402142.3	+	21	3710	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1243H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1237					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGTACCTACGCAGCAGCTGG	0.682																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3727-3729)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						54.0	59.0	57.0					22																	40060787		2114	4223	6337	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060787G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3710G>A	22.37:g.40060787G>A	ENSP00000385019:p.Arg1237His					CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1237H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H	p.R1243H			Q9P0X4	CAC1I_HUMAN			24	3728	+	Melanoma(58;0.0749)		1237					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3728G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381626	0.95967	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.89968	3.075	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.99066	1.0832	10	0.72032	D	0.01	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1202;1237;1202;1237	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	1237;1202;1237;1202;1243;1202	ENSP00000385019:R1237H;ENSP00000384093:R1202H;ENSP00000383887:R1237H;ENSP00000385680:R1202H;ENSP00000337829:R1243H;ENSP00000383028:R1202H	ENSP00000337829:R1243H	R	+	2	0	CACNA1I	38390733	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.541000	0.73865	1.950000	0.56595	0.462000	0.41574	CGC		0.682	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		17	130	0	0	0	1	0	17	130				
GLT6D1	360203	broad.mit.edu	37	9	138516029	138516029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516029C>T	ENST00000371763.1	-	5	998	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	249					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGAATAACTCCGTTCAGATAT	0.383																																						ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(745-747)Gga>Aga		glycosyltransferase 6 domain containing 1							148.0	146.0	146.0					9																	138516029		1843	4101	5944	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516029C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.745G>A	9.37:g.138516029C>T	ENSP00000360829:p.Gly249Arg						p.G249R	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	998	-		Myeloproliferative disorder(178;0.0821)	249						Missense_Mutation	SNP	ENST00000371763.1	37	c.745G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	c	10.80	1.453806	0.26161	.	.	ENSG00000204007	ENST00000371763	T	0.01406	4.93	2.8	-1.55	0.08558	.	0.488677	0.19103	N	0.122652	T	0.02649	0.0080	M	0.74467	2.265	0.09310	N	1	D	0.67145	0.996	P	0.49012	0.598	T	0.35076	-0.9803	10	0.59425	D	0.04	-16.6457	4.0427	0.09758	0.1646:0.5121:0.0:0.3233	.	249	Q7Z4J2	GL6D1_HUMAN	R	249	ENSP00000360829:G249R	ENSP00000360829:G249R	G	-	1	0	GLT6D1	137655850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.663000	0.25053	-0.360000	0.08138	-2.026000	0.00426	GGA		0.383	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		97	457	0	0	0	1	0	97	457				
MVP	9961	broad.mit.edu	37	16	29842323	29842323	+	Missense_Mutation	SNP	C	C	T	rs146114293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29842323C>T	ENST00000357402.5	+	3	388	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	MVP_ENST00000395353.1_Missense_Mutation_p.R84C|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	84					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTTCGGCTTCGCCACGCTGA	0.632																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(250-252)Cgc>Tgc		major vault protein		C	CYS/ARG,CYS/ARG	0,4394		0,0,2197	92.0	68.0	76.0		250,250	5.5	1.0	16	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MVP	NM_005115.4,NM_017458.3	180,180	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	84/894,84/894	29842323	2,12992	2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29842323C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.250C>T	16.37:g.29842323C>T	ENSP00000349977:p.Arg84Cys					MVP_ENST00000395353.1_Missense_Mutation_p.R84C|MVP_ENST00000452209.2_Intron	p.R84C	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			3	388	+			84					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.250C>T	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181939	0.78677	0.0	2.33E-4	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.35605	1.3;1.3	5.46	5.46	0.80206	.	0.156352	0.56097	D	0.000023	T	0.59959	0.2232	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.65142	-0.6240	10	0.87932	D	0	-20.0859	11.8372	0.52333	0.1749:0.8251:0.0:0.0	.	84	Q14764	MVP_HUMAN	C	84	ENSP00000349977:R84C;ENSP00000378760:R84C	ENSP00000349977:R84C	R	+	1	0	MVP	29749824	0.932000	0.31603	1.000000	0.80357	0.987000	0.75469	1.701000	0.37825	2.576000	0.86940	0.561000	0.74099	CGC		0.632	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		44	175	0	0	0	1	0	44	175				
PCLO	27445	broad.mit.edu	37	7	82545765	82545765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82545765C>T	ENST00000333891.9	-	7	11874	c.11537G>A	c.(11536-11538)cGa>cAa	p.R3846Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q|PCLO_ENST00000423517.2_Missense_Mutation_p.R3846Q	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						ACTTTCTATTCGGGTTGGTCT	0.458																																						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.(11536-11538)cGa>cAa		piccolo presynaptic cytomatrix protein																																				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.chr7:82545765C>T	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.11537G>A	7.37:g.82545765C>T	ENSP00000334319:p.Arg3846Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.R3846Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q	p.R3846Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11874	-			3777			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.11537G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987688	0.35036	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17054	2.3;2.3	5.8	5.8	0.92144	.	.	.	.	.	T	0.44074	0.1276	M	0.65498	2.005	0.48571	D	0.999673	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.92;0.99;0.99	T	0.22208	-1.0223	9	0.87932	D	0	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	3777;3846;3846	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3846;3846;566	ENSP00000334319:R3846Q;ENSP00000388393:R3846Q	ENSP00000334319:R3846Q	R	-	2	0	PCLO	82383701	1.000000	0.71417	0.955000	0.39395	0.309000	0.27889	4.800000	0.62524	2.758000	0.94735	0.563000	0.77884	CGA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		179	737	0	0	0	1	0	179	737				
ADCY3	109	broad.mit.edu	37	2	25141381	25141381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141381A>G	ENST00000260600.5	-	1	1327	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	159					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGCACGCGCGAAGTTCAGGCC	0.622																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(475-477)tTc>tCc		adenylate cyclase 3							81.0	86.0	84.0					2																	25141381		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141381A>G	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.476T>C	2.37:g.25141381A>G	ENSP00000260600:p.Phe159Ser						p.F159S	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			1	1327	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		159					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.476T>C	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019731	0.35606	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135	T;T	0.81078	-1.45;-1.09	4.38	4.38	0.52667	.	0.062532	0.64402	D	0.000005	T	0.73961	0.3654	L	0.51422	1.61	0.80722	D	1	B;B	0.17852	0.024;0.024	B;B	0.17433	0.018;0.018	T	0.68599	-0.5366	10	0.21540	T	0.41	.	12.5861	0.56419	1.0:0.0:0.0:0.0	.	159;159	B7ZLX9;O60266	.;ADCY3_HUMAN	S	159;134;159	ENSP00000260600:F159S;ENSP00000389799:F159S	ENSP00000260600:F159S	F	-	2	0	ADCY3	24994885	1.000000	0.71417	0.885000	0.34714	0.655000	0.38815	6.454000	0.73493	1.842000	0.53543	0.460000	0.39030	TTC		0.622	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			153	422	0	0	0	1	0	153	422				
ARC	23237	broad.mit.edu	37	8	143694703	143694703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143694703C>A	ENST00000356613.2	-	1	2130	c.930G>T	c.(928-930)caG>caT	p.Q310H	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CGTAGAGCGTCTGGTACAGGT	0.667																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(928-930)caG>caT		activity-regulated cytoskeleton-associated protein							57.0	55.0	56.0					8																	143694703		2203	4300	6503	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694703C>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.930G>T	8.37:g.143694703C>A	ENSP00000349022:p.Gln310His						p.Q310H	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2130	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	310					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.930G>T	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098156	0.37048	.	.	ENSG00000198576	ENST00000356613	T	0.31769	1.48	4.75	4.75	0.60458	.	0.112617	0.38897	U	0.001539	T	0.18676	0.0448	N	0.12182	0.205	0.39006	D	0.959457	B	0.23650	0.089	B	0.26310	0.068	T	0.10268	-1.0637	10	0.29301	T	0.29	.	12.6204	0.56600	0.0:0.8332:0.1668:0.0	.	310	Q7LC44	ARC_HUMAN	H	310	ENSP00000349022:Q310H	ENSP00000349022:Q310H	Q	-	3	2	ARC	143691705	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.762000	0.38451	2.189000	0.69895	0.563000	0.77884	CAG		0.667	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			69	258	1	0	2.60599e-31	1	3.06669e-31	69	258				
ZNF281	23528	broad.mit.edu	37	1	200376162	200376162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200376162C>A	ENST00000294740.3	-	2	2796	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	ZNF281_ENST00000367352.3_Missense_Mutation_p.S855I|ZNF281_ENST00000367353.1_Missense_Mutation_p.S891I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	891					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTAACTCTGGCTGGTGGGTGT	0.418																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2671-2673)aGc>aTc		zinc finger protein 281							112.0	118.0	116.0					1																	200376162		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376162C>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2672G>T	1.37:g.200376162C>A	ENSP00000294740:p.Ser891Ile					ZNF281_ENST00000367352.3_Missense_Mutation_p.S855I|ZNF281_ENST00000367353.1_Missense_Mutation_p.S891I	p.S891I	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2796	-			891					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2672G>T	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369378	0.61624	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.15139	2.45;2.45;2.47	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.05818	-1.0862	10	0.87932	D	0	-18.5336	19.5851	0.95487	0.0:1.0:0.0:0.0	.	855;891	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	891;891;855;596	ENSP00000294740:S891I;ENSP00000356322:S891I;ENSP00000356321:S855I	ENSP00000294740:S891I	S	-	2	0	ZNF281	198642785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.618000	0.88619	0.563000	0.77884	AGC		0.418	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		19	585	1	0	2.21704e-12	1	2.37967e-12	19	585				
ISLR	3671	broad.mit.edu	37	15	74467458	74467458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467458C>T	ENST00000249842.3	+	2	616	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.R87C	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	87					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAATGAGATCCGCACGGTGGC	0.632																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(259-261)Cgc>Tgc		immunoglobulin superfamily containing leucine-rich repeat							37.0	39.0	38.0					15																	74467458		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467458C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.259C>T	15.37:g.74467458C>T	ENSP00000249842:p.Arg87Cys					ISLR_ENST00000395118.1_Missense_Mutation_p.R87C|RP11-665J16.1_ENST00000561647.1_RNA	p.R87C	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	616	+			87						Missense_Mutation	SNP	ENST00000249842.3	37	c.259C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098976	0.37048	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.58210	0.35;0.35	4.05	3.05	0.35203	.	0.269415	0.25622	U	0.029420	T	0.50514	0.1620	L	0.38692	1.165	0.29700	N	0.840249	D	0.76494	0.999	P	0.60541	0.876	T	0.50668	-0.8801	10	0.54805	T	0.06	.	2.1307	0.03749	0.2833:0.3843:0.2311:0.1013	.	87	O14498	ISLR_HUMAN	C	87	ENSP00000249842:R87C;ENSP00000378550:R87C	ENSP00000249842:R87C	R	+	1	0	ISLR	72254511	0.872000	0.30054	0.960000	0.40013	0.520000	0.34377	1.133000	0.31430	1.822000	0.53115	0.313000	0.20887	CGC		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		62	288	0	0	0	1	0	62	288				
IGHV1-2	28474	broad.mit.edu	37	14	106452767	106452767	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106452767G>A	ENST00000390594.2	-	0	318									immunoglobulin heavy variable 1-2																		TGGTGACCCTGCCCTGAAACT	0.557																																						ENST00000390594.2																			0																				178.0	171.0	173.0					14																	106452767		2048	4185	6233			0							g.chr14:106452767G>A	X07448		14q32.33	2012-02-08			ENSG00000211934	ENSG00000211934		"""Immunoglobulins / IGH locus"""	5550	other	immunoglobulin gene							Standard	NG_001019		Approved	V35			OTTHUMG00000152320		14.37:g.106452767G>A														0	318	-									RNA	SNP	ENST00000390594.2	37																																																																																						0.557	IGHV1-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325882.1	NG_001019		49	1027	0	0	0	1	0	49	1027				
MUC16	94025	broad.mit.edu	37	19	9048279	9048279	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048279G>T	ENST00000397910.4	-	5	33555	c.33352C>A	c.(33352-33354)Ctt>Att	p.L11118I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11120	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L6751F(1)|p.L11118F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGAAGAAAGAGTTAGAATT	0.498																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.L6751F(1)|p.L11118F(1)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33352-33354)Ctt>Att		mucin 16, cell surface associated							81.0	74.0	76.0					19																	9048279		1915	4116	6031	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048279G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33352C>A	19.37:g.9048279G>T	ENSP00000381008:p.Leu11118Ile						p.L11118I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33555	-			11120			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33352C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.847	0.157510	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02342	0.0072	L	0.40543	1.245	.	.	.	B	0.27656	0.184	B	0.30646	0.118	T	0.43147	-0.9409	8	0.87932	D	0	.	0.4756	0.00539	0.1814:0.21:0.2627:0.3459	.	11118	B5ME49	.	I	11118	ENSP00000381008:L11118I	ENSP00000381008:L11118I	L	-	1	0	MUC16	8909279	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.687000	0.00393	-2.006000	0.00958	-0.492000	0.04666	CTT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		77	322	1	0	5.05997e-48	1	6.23844e-48	77	322				
TRPC4	7223	broad.mit.edu	37	13	38266283	38266283	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266283A>C	ENST00000379705.3	-	4	1944	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V|TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	363					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACTTGATAAATGGCTTCCTG	0.458																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1087-1089)Ttt>Gtt		transient receptor potential cation channel, subfamily C, member 4							119.0	115.0	116.0					13																	38266283		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266283A>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1087T>G	13.37:g.38266283A>C	ENSP00000369027:p.Phe363Val					TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V	p.F363V			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1944	-			363					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1087T>G	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509677	0.85282	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.989;0.999;0.968;0.994	D;D;D;D;P;D	0.76071	0.967;0.976;0.979;0.987;0.889;0.947	T	0.75013	-0.3467	10	0.54805	T	0.06	-20.5245	15.5786	0.76414	1.0:0.0:0.0:0.0	.	363;363;363;190;363;363	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	363;363;190;190;363;363;363;363;363	ENSP00000369027:F363V;ENSP00000369003:F363V;ENSP00000342580:F190V;ENSP00000369001:F190V;ENSP00000410133:F363V;ENSP00000348025:F363V;ENSP00000351264:F363V;ENSP00000368995:F363V;ENSP00000414316:F363V	ENSP00000342580:F190V	F	-	1	0	TRPC4	37164283	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.172000	0.94808	2.130000	0.65690	0.383000	0.25322	TTT		0.458	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		39	206	0	0	0	1	0	39	206				
RPS6	6194	broad.mit.edu	37	9	19378800	19378800	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19378800T>C	ENST00000380394.4	-	3	313	c.255A>G	c.(253-255)agA>agG	p.R85R	RPS6_ENST00000380384.1_Silent_p.R54R|RPS6_ENST00000498815.1_5'Flank|RPS6_ENST00000315377.4_Silent_p.R54R|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380381.3_3'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	85					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		TTCTCCTTGGTCTGTAACAGG	0.478																																						ENST00000380394.4																			0				endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(253-255)agA>agG		ribosomal protein S6							40.0	38.0	39.0					9																	19378800		2203	4300	6503	SO:0001819	synonymous_variant	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19378800T>C		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.255A>G	9.37:g.19378800T>C						RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000315377.4_Silent_p.R54R|RPS6_ENST00000380384.1_Silent_p.R54R	p.R85R	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	3	313	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	85					P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	ENST00000380394.4	37	c.255A>G	CCDS6492.1																																																																																				0.478	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010		22	170	0	0	0	1	0	22	170				
ELAVL3	1995	broad.mit.edu	37	19	11568960	11568960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11568960G>A	ENST00000359227.3	-	5	1053	c.629C>T	c.(628-630)aCg>aTg	p.T210M	ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	210					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGCCTGCCCCGTCTTCTGACT	0.627																																						ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(628-630)aCg>aTg		ELAV like neuron-specific RNA binding protein 3							90.0	80.0	83.0					19																	11568960		2203	4300	6503	SO:0001583	missense	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11568960G>A		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.629C>T	19.37:g.11568960G>A	ENSP00000352162:p.Thr210Met					ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN			5	1053	-			210					Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	c.629C>T	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047153	0.55110	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.08720	3.36;3.06	4.95	3.89	0.44902	Nucleotide-binding, alpha-beta plait (1);	0.052555	0.85682	D	0.000000	T	0.10380	0.0254	M	0.64997	1.995	0.80722	D	1	B;B	0.31256	0.211;0.316	B;B	0.25987	0.048;0.065	T	0.07693	-1.0759	10	0.31617	T	0.26	.	13.5258	0.61594	0.0:0.0:0.8423:0.1577	.	210;210	Q14576;Q14576-2	ELAV3_HUMAN;.	M	210	ENSP00000352162:T210M;ENSP00000390878:T210M	ENSP00000352162:T210M	T	-	2	0	ELAVL3	11429960	1.000000	0.71417	0.837000	0.33122	0.967000	0.64934	9.395000	0.97266	1.068000	0.40764	0.478000	0.44815	ACG		0.627	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		84	370	0	0	0	1	0	84	370				
SMAD9	4093	broad.mit.edu	37	13	37453838	37453838	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37453838G>T	ENST00000399275.2	-	0	128				SMAD9_ENST00000350148.5_De_novo_Start_InFrame|SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000379826.4_De_novo_Start_InFrame			O15198	SMAD9_HUMAN	SMAD family member 9						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGAGGCCACAGCAGGCTCCGG	0.627																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18								SMAD family member 9							35.0	39.0	38.0					13																	37453838		2203	4300	6503			4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453838G>T		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740		13.37:g.37453838G>T						SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000399275.2_De_novo_Start_InFrame|SMAD9_ENST00000350148.5_De_novo_Start_InFrame		NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	0	331	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						A2A2Y6|O14989|Q5TBA1	Translation_Start_Site	SNP	ENST00000399275.2	37		CCDS45032.1																																																																																				0.627	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		60	312	1	0	6.75472e-32	1	7.9656e-32	60	312				
GSE1	23199	broad.mit.edu	37	16	85698636	85698636	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85698636T>C	ENST00000253458.7	+	12	2836	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	GSE1_ENST00000405402.2_Missense_Mutation_p.V783A|GSE1_ENST00000393243.1_Missense_Mutation_p.V814A	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	887																	GAGAGACTTGTTGAAATGCTC	0.522																																						ENST00000253458.7																			0											c.(2659-2661)gTt>gCt		Gse1 coiled-coil protein							72.0	67.0	68.0					16																	85698636		2198	4300	6498	SO:0001583	missense	23199							g.chr16:85698636T>C	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2660T>C	16.37:g.85698636T>C	ENSP00000253458:p.Val887Ala					GSE1_ENST00000405402.2_Missense_Mutation_p.V783A|GSE1_ENST00000393243.1_Missense_Mutation_p.V814A	p.V887A	NM_014615.2	NP_055430.1					12	2836	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2660T>C	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997779	0.54147	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.31510	1.5;1.5;1.49	5.16	5.16	0.70880	.	0.278283	0.33959	N	0.004398	T	0.35098	0.0920	N	0.19112	0.55	0.36892	D	0.889952	P;D;D	0.65815	0.951;0.995;0.991	P;D;P	0.63033	0.598;0.91;0.815	T	0.24261	-1.0165	10	0.15499	T	0.54	-5.8079	14.6756	0.68978	0.0:0.0:0.0:1.0	.	650;814;887	Q59GZ0;Q14687-3;Q14687	.;.;GSE1_HUMAN	A	783;887;814	ENSP00000384839:V783A;ENSP00000253458:V887A;ENSP00000376934:V814A	ENSP00000253458:V887A	V	+	2	0	KIAA0182	84256137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.365000	0.59486	1.960000	0.56953	0.459000	0.35465	GTT		0.522	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		12	278	0	0	0	1	0	12	278				
SENP7	57337	broad.mit.edu	37	3	101136544	101136544	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101136544A>C	ENST00000394095.2	-	5	428	c.375T>G	c.(373-375)tgT>tgG	p.C125W	SENP7_ENST00000394091.1_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000348610.3_Missense_Mutation_p.C92W	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	125						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTGGCATCACATAAATTAG	0.398																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(373-375)tgT>tgG		SUMO1/sentrin specific peptidase 7							187.0	181.0	183.0					3																	101136544		1908	4129	6037	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101136544A>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.375T>G	3.37:g.101136544A>C	ENSP00000377655:p.Cys125Trp					SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.C92W|SENP7_ENST00000394091.1_Intron	p.C125W	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			5	428	-			125					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.375T>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	A	17.67	3.445967	0.63178	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	T;T;T	0.49432	0.78;0.78;0.78	5.52	3.06	0.35304	.	0.305274	0.28871	N	0.013865	T	0.58206	0.2106	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.962	T	0.56001	-0.8051	10	0.66056	D	0.02	-1.7906	7.2869	0.26344	0.7807:0.1453:0.074:0.0	.	92;125	Q9BQF6-2;Q9BQF6	.;SENP7_HUMAN	W	125;125;92	ENSP00000377655:C125W;ENSP00000377654:C125W;ENSP00000342159:C92W	ENSP00000342159:C92W	C	-	3	2	SENP7	102619234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.026000	0.57232	0.440000	0.26502	0.528000	0.53228	TGT		0.398	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		102	435	0	0	0	1	0	102	435				
WDFY2	115825	broad.mit.edu	37	13	52234790	52234790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52234790G>A	ENST00000298125.5	+	2	376	c.196G>A	c.(196-198)Gca>Aca	p.A66T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	66							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CGTATACCATGCAATGCCTTG	0.393																																						ENST00000298125.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(196-198)Gca>Aca		WD repeat and FYVE domain containing 2							213.0	177.0	189.0					13																	52234790		2203	4300	6503	SO:0001583	missense	115825						metal ion binding	g.chr13:52234790G>A	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.196G>A	13.37:g.52234790G>A	ENSP00000298125:p.Ala66Thr						p.A66T	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	2	376	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	66					B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	c.196G>A	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283920	0.23392	.	.	ENSG00000139668	ENST00000298125	T	0.66815	-0.23	5.76	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.604669	0.19296	N	0.117770	T	0.31231	0.0790	N	0.01109	-1.01	0.21416	N	0.999693	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.34782	T	0.22	-0.1294	5.7799	0.18299	0.237:0.1387:0.6243:0.0	.	66	Q96P53	WDFY2_HUMAN	T	66	ENSP00000298125:A66T	ENSP00000298125:A66T	A	+	1	0	WDFY2	51132791	0.957000	0.32711	0.487000	0.27428	0.946000	0.59487	1.290000	0.33319	0.353000	0.24079	0.557000	0.71058	GCA		0.393	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		35	385	0	0	0	1	0	35	385				
ALDH6A1	4329	broad.mit.edu	37	14	74538953	74538953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74538953G>A	ENST00000553458.1	-	4	399	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|ALDH6A1_ENST00000555126.1_5'Flank|ALDH6A1_ENST00000556852.1_5'UTR|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	101				R -> C (in Ref. 4; BAG57539). {ECO:0000305}.	branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		ACCTGCTGGCGGCTTAATACT	0.468																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(301-303)Cgc>Tgc		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						73.0	72.0	73.0					14																	74538953		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74538953G>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.301C>T	14.37:g.74538953G>A	ENSP00000450436:p.Arg101Cys					ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|CCDC176_ENST00000553773.1_Intron	p.R101C	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	4	399	-			101					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.301C>T	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623528	0.87460	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.97066	-4.23;-4.23	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052739	0.85682	D	0.000000	D	0.99357	0.9774	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98111	1.0420	10	0.87932	D	0	.	19.1054	0.93293	0.0:0.0:1.0:0.0	.	101	Q02252	MMSA_HUMAN	C	101	ENSP00000450436:R101C;ENSP00000342564:R101C	ENSP00000342564:R101C	R	-	1	0	ALDH6A1	73608706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.753000	0.85153	2.744000	0.94065	0.655000	0.94253	CGC		0.468	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			55	260	0	0	0	1	0	55	260				
DNM1P47	100216544	broad.mit.edu	37	15	102305072	102305072	+	RNA	SNP	G	G	T	rs182208383	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102305072G>T	ENST00000561463.1	+	0	13118									DNM1 pseudogene 47																		AGCATCATCGGCGACATCAAC	0.612													.|||	9	0.00179712	0.0068	0.0	5008	,	,		23769	0.0		0.0	False		,,,				2504	0.0					ENST00000561463.1																			0																																																			0							g.chr15:102305072G>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305072G>T														0	13118	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.612	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		17	110	1	0	3.41278e-10	1	3.61262e-10	17	110				
GTF3C1	2975	broad.mit.edu	37	16	27503771	27503771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27503771G>A	ENST00000356183.4	-	19	3054	c.3039C>T	c.(3037-3039)aaC>aaT	p.N1013N	GTF3C1_ENST00000561623.1_Silent_p.N1013N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1013					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGCGGGCCAGGTTGTAATGTG	0.522																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3037-3039)aaC>aaT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							66.0	73.0	71.0					16																	27503771		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503771G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3039C>T	16.37:g.27503771G>A						GTF3C1_ENST00000561623.1_Silent_p.N1013N	p.N1013N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			19	3054	-			1013					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.3039C>T	CCDS32414.1																																																																																				0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		86	432	0	0	0	1	0	86	432				
OR52I1	390037	broad.mit.edu	37	11	4615834	4615834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615834C>T	ENST00000530443.2	+	1	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	OR52I1_ENST00000450052.2_Missense_Mutation_p.A213V	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCTTTGGCCAGGTTAGCA	0.502																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(637-639)gCc>gTc		olfactory receptor, family 52, subfamily I, member 1							195.0	182.0	186.0					11																	4615834		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615834C>T	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.566C>T	11.37:g.4615834C>T	ENSP00000436453:p.Ala189Val					OR52I1_ENST00000530443.2_Missense_Mutation_p.A189V	p.A213V			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	638	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	189					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.638C>T	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740802	0.30865	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.73047	-0.71;-0.71	4.96	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.156467	0.29830	N	0.011084	T	0.55033	0.1895	L	0.31371	0.925	0.28777	N	0.900046	B	0.22276	0.067	B	0.25140	0.058	T	0.58978	-0.7540	9	0.33940	T	0.23	-8.131	6.7541	0.23503	0.0:0.7797:0.0:0.2203	.	189	Q8NGK6	O52I1_HUMAN	V	213;189	ENSP00000409094:A213V;ENSP00000436453:A189V	ENSP00000409094:A213V	A	+	2	0	OR52I1	4572410	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.420000	0.21263	1.371000	0.46172	0.555000	0.69702	GCC		0.502	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		30	831	0	0	0	1	0	30	831				
SPDYE3	441272	broad.mit.edu	37	7	99909548	99909548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99909548G>A	ENST00000332397.6	+	4	904	c.720G>A	c.(718-720)tcG>tcA	p.S240S	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	240										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCGAGTGTCGCTCGTGCTCC	0.572																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(718-720)tcG>tcA		speedy/RINGO cell cycle regulator family member E3							6.0	7.0	7.0					7																	99909548		1180	3211	4391	SO:0001819	synonymous_variant	441272							g.chr7:99909548G>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.720G>A	7.37:g.99909548G>A						SPDYE3_ENST00000437326.2_5'UTR	p.S240S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			4	904	+			240					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.720G>A	CCDS47658.2																																																																																				0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		69	238	0	0	0	1	0	69	238				
METTL13	51603	broad.mit.edu	37	1	171765763	171765763	+	Missense_Mutation	SNP	C	C	A	rs199878964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171765763C>A	ENST00000361735.3	+	8	2233	c.1967C>A	c.(1966-1968)cCt>cAt	p.P656H	METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000362019.3_Missense_Mutation_p.P570H	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	656							methyltransferase activity (GO:0008168)	p.P656L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGCTGCACCCTGAGCAAAAA	0.552																																						ENST00000361735.3																			1	Substitution - Missense(1)	p.P656L(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1966-1968)cCt>cAt		methyltransferase like 13							117.0	110.0	113.0					1																	171765763		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171765763C>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1967C>A	1.37:g.171765763C>A	ENSP00000354920:p.Pro656His					METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000362019.3_Missense_Mutation_p.P570H|METTL13_ENST00000466643.1_3'UTR	p.P656H	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			8	2233	+			656					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1967C>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560058	0.65538	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.79	5.79	0.91817	.	0.459579	0.26742	N	0.022725	T	0.80110	0.4563	L	0.36672	1.1	0.20764	N	0.999852	B;D;B	0.56287	0.054;0.975;0.198	B;P;B	0.58660	0.018;0.843;0.28	T	0.76408	-0.2970	10	0.87932	D	0	-0.688	19.635	0.95728	0.0:1.0:0.0:0.0	.	655;500;656	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	H	655;570;500;656;356;353	ENSP00000401955:P655H;ENSP00000355393:P570H;ENSP00000356711:P500H;ENSP00000354920:P656H;ENSP00000356710:P356H	ENSP00000341732:P353H	P	+	2	0	METTL13	170032386	0.034000	0.19679	0.412000	0.26496	0.966000	0.64601	3.279000	0.51670	2.733000	0.93635	0.655000	0.94253	CCT		0.552	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		142	459	1	0	9.12202e-81	1	1.16676e-80	142	459				
DLK2	65989	broad.mit.edu	37	6	43420813	43420813	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43420813C>A	ENST00000357338.3	-	4	901	c.201G>T	c.(199-201)caG>caT	p.Q67H	DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H|DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H|DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	67	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGTACCGTGCTGGCAGCCAG	0.632																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(199-201)caG>caT		delta-like 2 homolog (Drosophila)							53.0	42.0	46.0					6																	43420813		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43420813C>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.201G>T	6.37:g.43420813C>A	ENSP00000349893:p.Gln67His					DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H|DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H|DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H	p.Q67H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	901	-	all_lung(25;0.00536)		67			EGF-like 2.		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.201G>T	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.457599|3.457599	0.63401|0.63401	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245|ENST00000430324	D;T;T;D|.	0.89875|.	-2.58;-0.23;-0.23;-2.58|.	4.72|4.72	3.85|3.85	0.44370|0.44370	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.488214|.	0.20090|.	N|.	0.099473|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.20328|0.20328	0.56|0.56	0.37571|0.37571	D|D	0.919444|0.919444	P|.	0.52316|.	0.952|.	B|.	0.42163|.	0.378|.	T|T	0.06445|0.06445	-1.0826|-1.0826	10|5	0.42905|.	T|.	0.14|.	.|.	4.6506|4.6506	0.12592|0.12592	0.1278:0.4869:0.3006:0.0847|0.1278:0.4869:0.3006:0.0847	.|.	67|.	Q6UY11|.	DLK2_HUMAN|.	H|I	67|4	ENSP00000361563:Q67H;ENSP00000361566:Q67H;ENSP00000349893:Q67H;ENSP00000398906:Q67H|.	ENSP00000349893:Q67H|.	Q|S	-|-	3|2	2|0	DLK2|DLK2	43528791|43528791	0.860000|0.860000	0.29831|0.29831	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	-0.042000|-0.042000	0.12063|0.12063	1.115000|1.115000	0.41800|0.41800	-0.350000|-0.350000	0.07774|0.07774	CAG|AGC		0.632	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		58	188	1	0	2.47907e-22	1	2.80423e-22	58	188				
TRIM29	23650	broad.mit.edu	37	11	120008617	120008617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120008617C>T	ENST00000341846.5	-	1	544	c.123G>A	c.(121-123)aaG>aaA	p.K41K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	41					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGTTGGTGGTCTTGGCATCCT	0.687																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(121-123)aaG>aaA		tripartite motif containing 29							54.0	54.0	54.0					11																	120008617		2203	4299	6502	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008617C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.123G>A	11.37:g.120008617C>T							p.K41K	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	544	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	41					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.123G>A	CCDS8428.1																																																																																				0.687	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		15	558	0	0	0	1	0	15	558				
MARK3	4140	broad.mit.edu	37	14	103969356	103969356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969356C>T	ENST00000429436.2	+	18	2564	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000416682.2_Missense_Mutation_p.A684V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000303622.9_Missense_Mutation_p.A661V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	685						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTGTTGGACGCCAATAACTGC	0.552																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2053-2055)gCc>gTc		MAP/microtubule affinity-regulating kinase 3							71.0	73.0	72.0					14																	103969356		2062	4221	6283	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103969356C>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2054C>T	14.37:g.103969356C>T	ENSP00000411397:p.Ala685Val					MARK3_ENST00000303622.9_Missense_Mutation_p.A661V|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000416682.2_Missense_Mutation_p.A684V	p.A685V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		18	2564	+		Melanoma(154;0.155)	685					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.2054C>T	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.994032|4.994032	0.93167|0.93167	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81983|0.81983	0.4938|0.4938	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;B;B;B;B;B;D;B;B|.	0.63046|.	0.943;0.347;0.272;0.338;0.434;0.062;0.992;0.149;0.272|.	P;B;B;B;B;B;P;B;B|.	0.58721|.	0.844;0.075;0.209;0.03;0.249;0.178;0.778;0.139;0.209|.	T|T	0.79955|0.79955	-0.1585|-0.1585	10|5	0.72032|.	D|.	0.01|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	692;263;684;394;645;685;591;676;661|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	V|S	708;377;591;684;685;661;645;676;263|437	ENSP00000335347:A708V;ENSP00000402104:A591V;ENSP00000408092:A684V;ENSP00000411397:A685V;ENSP00000303698:A661V;ENSP00000216288:A645V;ENSP00000450772:A676V;ENSP00000451623:A263V|.	ENSP00000216288:A676V|.	A|P	+|+	2|1	0|0	MARK3|MARK3	103039109|103039109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	5.875000|5.875000	0.69660|0.69660	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.552	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		54	231	0	0	0	1	0	54	231				
ANKK1	255239	broad.mit.edu	37	11	113258669	113258669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113258669C>T	ENST00000303941.3	+	1	157	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	21							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCGACGACTTCGAGGGCGACT	0.726																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(61-63)ttC>ttT		ankyrin repeat and kinase domain containing 1							5.0	8.0	7.0					11																	113258669		1775	3911	5686	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113258669C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.63C>T	11.37:g.113258669C>T							p.F21F	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	1	157	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	21						Silent	SNP	ENST00000303941.3	37	c.63C>T	CCDS44734.1																																																																																				0.726	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		8	39	0	0	0	1	0	8	39				
PCLO	27445	broad.mit.edu	37	7	82583261	82583261	+	Silent	SNP	G	G	A	rs181143686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	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						ACACGGTTTCGGATAAGCTAC	0.428													G|||	3	0.000599042	0.0023	0.0	5008	,	,		11761	0.0		0.0	False		,,,				2504	0.0					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.(7006-7008)tcC>tcT		piccolo presynaptic cytomatrix protein		G	,	2,3710		0,2,1854	103.0	104.0	104.0		7008,7008	-5.3	0.0	7		104	0,8200		0,0,4100	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,2,5954	AA,AG,GG		0.0,0.0539,0.0168	,	2336/4936,2336/5143	82583261	2,11910	1856	4100	5956	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583261G>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.7008C>T	7.37:g.82583261G>A						PCLO_ENST00000333891.8_Silent_p.S2336S	p.S2336S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7345	-			2267			Poly-Pro.|Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.7008C>T	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		105	549	0	0	0	1	0	105	549				
SYTL5	94122	broad.mit.edu	37	X	37932929	37932929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37932929C>T	ENST00000357972.5	+	5	1078	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	SYTL5_ENST00000297875.2_Missense_Mutation_p.H178Y|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.H178Y			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	178					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GAAGGCCAGCCATGATGGGCC	0.448																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(532-534)Cat>Tat		synaptotagmin-like 5							58.0	47.0	51.0					X																	37932929		2200	4300	6500	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37932929C>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.532C>T	X.37:g.37932929C>T	ENSP00000350657:p.His178Tyr					SYTL5_ENST00000297875.2_Missense_Mutation_p.H178Y|SYTL5_ENST00000456733.2_Missense_Mutation_p.H178Y|TM4SF2_ENST00000465127.1_Intron	p.H178Y			Q8TDW5	SYTL5_HUMAN			5	1078	+			178					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.532C>T	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722295	0.15372	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.21361	2.01;2.01;2.35	5.66	4.79	0.61399	.	0.790281	0.12375	N	0.474423	T	0.16854	0.0405	L	0.54323	1.7	0.09310	N	1	B;B	0.31910	0.346;0.07	B;B	0.25291	0.059;0.008	T	0.27054	-1.0085	10	0.02654	T	1	-10.5719	10.7052	0.45950	0.0:0.9079:0.0:0.092	.	178;178	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	Y	178	ENSP00000297875:H178Y;ENSP00000350657:H178Y;ENSP00000395220:H178Y	ENSP00000297875:H178Y	H	+	1	0	SYTL5	37817873	0.587000	0.26791	0.568000	0.28447	0.699000	0.40488	3.707000	0.54838	1.140000	0.42260	0.594000	0.82650	CAT		0.448	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		5	39	0	0	0	1	0	5	39				
IL7R	3575	broad.mit.edu	37	5	35876421	35876421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35876421C>A	ENST00000303115.3	+	8	1342	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	405					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAGGACCTCCTGCTTAGCCT	0.542			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1213-1215)Ctg>Atg		interleukin 7 receptor							106.0	91.0	96.0					5																	35876421		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876421C>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1213C>A	5.37:g.35876421C>A	ENSP00000306157:p.Leu405Met					IL7R_ENST00000343305.4_3'UTR	p.L405M	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1342	+	all_lung(31;0.00015)		405					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1213C>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999598	0.19121	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.56611	1.57;0.45	5.6	1.84	0.25277	.	1.733490	0.03338	N	0.194382	T	0.67832	0.2935	M	0.66939	2.045	0.09310	N	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.30794	-0.9966	10	0.49607	T	0.09	-5.7828	4.1864	0.10400	0.1611:0.5833:0.0:0.2555	.	405	P16871	IL7RA_HUMAN	M	405;171	ENSP00000306157:L405M;ENSP00000420923:L171M	ENSP00000306157:L405M	L	+	1	2	IL7R	35912178	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.328000	0.19681	0.048000	0.15891	-0.961000	0.02630	CTG		0.542	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			55	230	1	0	9.72345e-25	1	1.11288e-24	55	230				
PRKD3	23683	broad.mit.edu	37	2	37520372	37520372	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37520372G>T	ENST00000379066.1	-	3	1093	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I			O94806	KPCD3_HUMAN	protein kinase D3	111					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGGCGAAAGAGAAGAATTTTG	0.373																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(331-333)Ctc>Atc		protein kinase D3							105.0	99.0	101.0					2																	37520372		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37520372G>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.331C>A	2.37:g.37520372G>T	ENSP00000368356:p.Leu111Ile					PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I	p.L111I			O94806	KPCD3_HUMAN			3	1093	-		all_hematologic(82;0.21)	111					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.331C>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804090	0.90623	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.90261	-0.82;-0.82;-2.64	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	D	0.94650	0.8275	M	0.78916	2.43	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.99;0.992	D	0.94648	0.7836	10	0.66056	D	0.02	-9.5135	12.6994	0.57022	0.0755:0.0:0.9245:0.0	.	111;111	O94806-2;O94806	.;KPCD3_HUMAN	I	111;111;7	ENSP00000368356:L111I;ENSP00000234179:L111I;ENSP00000401839:L7I	ENSP00000234179:L111I	L	-	1	0	PRKD3	37373876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.634000	0.89283	0.655000	0.94253	CTC		0.373	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		47	315	1	0	3.86361e-14	1	4.18898e-14	47	315				
FURIN	5045	broad.mit.edu	37	15	91424215	91424215	+	Silent	SNP	C	C	T	rs146566561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424215C>T	ENST00000268171.3	+	15	2016	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	579					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGGGCTGCCCGTACCTCCAG	0.622													C|||	4	0.000798722	0.0015	0.0	5008	,	,		18223	0.001		0.0	False		,,,				2504	0.001					ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1735-1737)ccC>ccT		furin (paired basic amino acid cleaving enzyme)		C		4,4392	8.1+/-20.4	0,4,2194	87.0	94.0	92.0		1737	-5.9	0.0	15	dbSNP_134	92	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FURIN	NM_002569.2		0,5,6491	TT,TC,CC		0.0116,0.091,0.0385		579/795	91424215	5,12987	2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424215C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1737C>T	15.37:g.91424215C>T							p.P579P	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		15	2016	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		579			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.1737C>T	CCDS10364.1																																																																																				0.622	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		42	496	0	0	0	1	0	42	496				
IGF1R	3480	broad.mit.edu	37	15	99465579	99465579	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99465579G>A	ENST00000268035.6	+	11	3015	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	IGF1R_ENST00000558762.1_Missense_Mutation_p.D802N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	802	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GTACCGCATCGATATCCACAG	0.517																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2404-2406)Gat>Aat		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						109.0	108.0	108.0					15																	99465579		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99465579G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2404G>A	15.37:g.99465579G>A	ENSP00000268035:p.Asp802Asn					IGF1R_ENST00000558762.1_Missense_Mutation_p.D802N	p.D802N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		11	3015	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		802					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2404G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438773	0.96168	.	.	ENSG00000140443	ENST00000268035	T	0.76448	-1.02	5.5	5.5	0.81552	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.88672	0.6500	M	0.78456	2.415	0.80722	D	1	D;P	0.89917	1.0;0.48	D;B	0.97110	1.0;0.048	D	0.88542	0.3110	10	0.51188	T	0.08	.	19.4017	0.94632	0.0:0.0:1.0:0.0	.	802;802	C9J5X1;P08069	.;IGF1R_HUMAN	N	802	ENSP00000268035:D802N	ENSP00000268035:D802N	D	+	1	0	IGF1R	97283102	1.000000	0.71417	0.953000	0.39169	0.880000	0.50808	9.848000	0.99507	2.567000	0.86603	0.655000	0.94253	GAT		0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		72	300	0	0	0	1	0	72	300				
PCSK4	54760	broad.mit.edu	37	19	1483417	1483417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1483417G>A	ENST00000300954.5	-	12	1498	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCGGCGCAGGCCGATA	0.687																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1435-1437)tgC>tgT		proprotein convertase subtilisin/kexin type 4							24.0	28.0	26.0					19																	1483417		2174	4237	6411	SO:0001819	synonymous_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1483417G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1437C>T	19.37:g.1483417G>A							p.C479C	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1498	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	479						Silent	SNP	ENST00000300954.5	37	c.1437C>T	CCDS12069.2																																																																																				0.687	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		80	261	0	0	0	1	0	80	261				
SOX11	6664	broad.mit.edu	37	2	5833253	5833253	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5833253G>A	ENST00000322002.3	+	1	455	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	134					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CAAGCCCAGCGCCAGCCAGAG	0.706																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(400-402)Gcc>Acc		SRY (sex determining region Y)-box 11							9.0	13.0	11.0					2																	5833253		2158	4256	6414	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833253G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.400G>A	2.37:g.5833253G>A	ENSP00000322568:p.Ala134Thr						p.A134T	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	455	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		134					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.400G>A	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169174	0.57584	.	.	ENSG00000176887	ENST00000322002	D	0.97850	-4.57	2.82	2.82	0.32997	.	.	.	.	.	D	0.94159	0.8126	L	0.52011	1.625	0.39897	D	0.973855	B	0.25850	0.136	B	0.11329	0.006	D	0.90695	0.4616	9	0.13108	T	0.6	.	8.7744	0.34753	0.0:0.0:0.7743:0.2257	.	134	P35716	SOX11_HUMAN	T	134	ENSP00000322568:A134T	ENSP00000322568:A134T	A	+	1	0	SOX11	5750704	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	2.399000	0.44495	1.552000	0.49463	0.478000	0.44815	GCC		0.706	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		31	128	0	0	0	1	0	31	128				
TP53BP1	7158	broad.mit.edu	37	15	43708516	43708516	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43708516A>G	ENST00000263801.3	-	22	5017	c.4765T>C	c.(4765-4767)Tcc>Ccc	p.S1589P	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1589	Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCCAAGGACAGGATGACA	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4765-4767)Tcc>Ccc	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							185.0	156.0	166.0					15																	43708516		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43708516A>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4765T>C	15.37:g.43708516A>G	ENSP00000263801:p.Ser1589Pro					TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P	p.S1589P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	22	5017	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1589					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4765T>C	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442899	0.83993	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.57	5.57	0.84162	Translation protein SH3-like, subgroup (1);Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.27053	0.805	0.58432	D	0.999997	D;D;D;D	0.76494	0.996;0.999;0.998;0.998	D;D;D;D	0.87578	0.993;0.998;0.996;0.996	T	0.63712	-0.6575	10	0.51188	T	0.08	-9.0154	16.0315	0.80582	1.0:0.0:0.0:0.0	.	1594;1589;1594;1594	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	P	1589;1594;1544;1594	ENSP00000263801:S1589P;ENSP00000371475:S1594P;ENSP00000371470:S1544P;ENSP00000393497:S1594P	ENSP00000263801:S1589P	S	-	1	0	TP53BP1	41495808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.745000	0.74860	2.247000	0.74100	0.482000	0.46254	TCC		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			78	343	0	0	0	1	0	78	343				
KCNA3	3738	broad.mit.edu	37	1	111216054	111216054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216054C>T	ENST00000369769.2	-	1	1601	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	460					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGAGATCCCACAATCTTGCCC	0.537																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1378-1380)Gtg>Atg		potassium voltage-gated channel, shaker-related subfamily, member 3							110.0	89.0	96.0					1																	111216054		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216054C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1378G>A	1.37:g.111216054C>T	ENSP00000358784:p.Val460Met						p.V460M	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1601	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	460					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1378G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147156	0.77888	.	.	ENSG00000177272	ENST00000369769	D	0.98567	-5.0	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.99269	0.9745	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99346	1.0913	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	460	P22001	KCNA3_HUMAN	M	460	ENSP00000358784:V460M	ENSP00000358784:V460M	V	-	1	0	KCNA3	111017577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GTG		0.537	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		59	226	0	0	0	1	0	59	226				
LMTK2	22853	broad.mit.edu	37	7	97823014	97823014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823014C>T	ENST00000297293.5	+	11	3530	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1079					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGATGCCGGCGATGGTCACA	0.617																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3235-3237)ggC>ggT		lemur tyrosine kinase 2							37.0	35.0	35.0					7																	97823014		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823014C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3237C>T	7.37:g.97823014C>T							p.G1079G	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3530	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1079					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3237C>T	CCDS5654.1																																																																																				0.617	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		5	187	0	0	0	1	0	5	187				
DOK4	55715	broad.mit.edu	37	16	57507359	57507359	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57507359T>G	ENST00000340099.4	-	9	1282	c.911A>C	c.(910-912)aAc>aCc	p.N304T	DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000566936.1_Missense_Mutation_p.N343T|DOK4_ENST00000569548.1_Missense_Mutation_p.N304T	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	304					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GATGAATCTGTTGAGGAGGTC	0.597																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.(1027-1029)aAc>aCc		docking protein 4							119.0	97.0	105.0					16																	57507359		2198	4300	6498	SO:0001583	missense	0						insulin receptor binding	g.chr16:57507359T>G	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.911A>C	16.37:g.57507359T>G	ENSP00000344277:p.Asn304Thr					DOK4_ENST00000569548.1_Missense_Mutation_p.N304T|DOK4_ENST00000340099.4_Missense_Mutation_p.N304T	p.N343T			Q8TEW6	DOK4_HUMAN			7	1325	-			304					O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	c.1028A>C	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473549	0.43942	.	.	ENSG00000125170	ENST00000340099	D	0.91894	-2.93	5.4	5.4	0.78164	.	0.743799	0.13215	N	0.404870	D	0.86826	0.6026	N	0.22421	0.69	0.38814	D	0.95547	B	0.16166	0.016	B	0.13407	0.009	T	0.82659	-0.0348	10	0.48119	T	0.1	-22.6822	13.1758	0.59626	0.0:0.0:0.0:1.0	.	304	Q8TEW6	DOK4_HUMAN	T	304	ENSP00000344277:N304T	ENSP00000344277:N304T	N	-	2	0	DOK4	56064860	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.356000	0.52269	2.048000	0.60808	0.533000	0.62120	AAC		0.597	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			43	184	0	0	0	1	0	43	184				
SPAG6	9576	broad.mit.edu	37	10	22699988	22699988	+	Missense_Mutation	SNP	G	G	A	rs143302036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22699988G>A	ENST00000376624.3	+	10	1485	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q|SPAG6_ENST00000313311.6_Intron|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376603.2_Missense_Mutation_p.R524Q|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	448					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AAAGCTCGACGACTTTTTGTA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0					ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(1570-1572)cGa>cAa		sperm associated antigen 6		G	GLN/ARG,	0,4406		0,0,2203	74.0	73.0	73.0		1343,	3.9	0.0	10	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	SPAG6	NM_012443.2,NM_172242.1	43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	448/510,	22699988	1,13005	2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22699988G>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1343G>A	10.37:g.22699988G>A	ENSP00000365811:p.Arg448Gln					RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q|SPAG6_ENST00000376624.3_Missense_Mutation_p.R448Q|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q	p.R524Q			O75602	SPAG6_HUMAN			10	1713	+			448					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1571G>A	CCDS7139.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.38	3.106882	0.56291	0.0	1.16E-4	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630	T;T;T;T	0.63913	-0.07;-0.07;0.75;-0.07	5.97	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.105878	0.64402	N	0.000004	T	0.61274	0.2334	M	0.77616	2.38	0.36197	D	0.850442	P;P;P	0.51653	0.947;0.945;0.947	B;P;B	0.46758	0.277;0.526;0.206	T	0.67639	-0.5619	10	0.05351	T	0.99	-11.9705	10.7739	0.46338	0.173:0.0:0.827:0.0	.	423;524;448	B4DXZ4;O75602-3;O75602	.;.;SPAG6_HUMAN	Q	448;524;209;423	ENSP00000365811:R448Q;ENSP00000365788:R524Q;ENSP00000365786:R209Q;ENSP00000441325:R423Q	ENSP00000365786:R209Q	R	+	2	0	SPAG6	22739994	1.000000	0.71417	0.043000	0.18650	0.637000	0.38172	6.594000	0.74104	0.674000	0.31244	0.591000	0.81541	CGA		0.368	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			48	227	0	0	0	1	0	48	227				
GPR148	344561	broad.mit.edu	37	2	131487621	131487621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131487621G>A	ENST00000309926.4	+	1	979	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCACACATGGCTCCTGGCAG	0.572																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(895-897)tgG>tgA		G protein-coupled receptor 148							153.0	117.0	129.0					2																	131487621		2203	4300	6503	SO:0001587	stop_gained	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487621G>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.897G>A	2.37:g.131487621G>A	ENSP00000308908:p.Trp299*						p.W299*	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	979	+	Colorectal(110;0.1)		299					Q2M369|Q86SP7|Q86U87	Nonsense_Mutation	SNP	ENST00000309926.4	37	c.897G>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.082396	0.76528	.	.	ENSG00000173302	ENST00000309926	.	.	.	3.17	3.17	0.36434	.	0.000000	0.56097	U	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.9475	12.1529	0.54059	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000308908:W299X	W	+	3	0	GPR148	131204091	1.000000	0.71417	0.890000	0.34922	0.526000	0.34562	4.537000	0.60643	1.506000	0.48736	0.462000	0.41574	TGG		0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		40	400	0	0	0	1	0	40	400				
THSD7A	221981	broad.mit.edu	37	7	11630195	11630195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11630195C>T	ENST00000423059.4	-	4	1596	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	449	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCTGGTTGCCGCGCCTCTTG	0.557										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1345-1347)Ggc>Agc		thrombospondin, type I, domain containing 7A							50.0	56.0	54.0					7																	11630195		1994	4165	6159	SO:0001583	missense	221981					integral to membrane		g.chr7:11630195C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1345G>A	7.37:g.11630195C>T	ENSP00000406482:p.Gly449Ser	HNSCC(18;0.044)					p.G449S	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1596	-			449			TSP type-1 4.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1345G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132081	0.21041	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.57107	0.42	5.8	4.91	0.64330	.	0.138816	0.64402	D	0.000003	T	0.26846	0.0657	N	0.04297	-0.235	0.47778	D	0.999515	B	0.06786	0.001	B	0.04013	0.001	T	0.16958	-1.0385	10	0.05525	T	0.97	.	14.2875	0.66256	0.0:0.9292:0.0:0.0708	.	449	Q9UPZ6	THS7A_HUMAN	S	449	ENSP00000406482:G449S	ENSP00000262042:G449S	G	-	1	0	THSD7A	11596720	0.771000	0.28555	0.457000	0.27056	0.876000	0.50452	2.212000	0.42835	2.748000	0.94277	0.655000	0.94253	GGC		0.557	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		38	194	0	0	0	1	0	38	194				
COL15A1	1306	broad.mit.edu	37	9	101798455	101798455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101798455C>A	ENST00000375001.3	+	20	2716	c.2293C>A	c.(2293-2295)Ctc>Atc	p.L765I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	765	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCCAGGGTCTCAAAGGAGA	0.488																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2293-2295)Ctc>Atc		collagen, type XV, alpha 1							68.0	88.0	81.0					9																	101798455		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101798455C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2293C>A	9.37:g.101798455C>A	ENSP00000364140:p.Leu765Ile						p.L765I	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			20	2716	+		Acute lymphoblastic leukemia(62;0.0562)	765			Triple-helical region 3 (COL3).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2293C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725569	0.30593	.	.	ENSG00000204291	ENST00000375001	D	0.89939	-2.59	5.39	4.25	0.50352	.	0.594292	0.17700	N	0.164965	T	0.79034	0.4378	L	0.31371	0.925	0.09310	N	0.999995	B	0.29909	0.261	B	0.26416	0.069	T	0.63730	-0.6571	10	0.21540	T	0.41	-0.692	6.8826	0.24181	0.0:0.8497:0.0:0.1503	.	765	P39059	COFA1_HUMAN	I	765	ENSP00000364140:L765I	ENSP00000364140:L765I	L	+	1	0	COL15A1	100838276	0.928000	0.31464	0.997000	0.53966	0.819000	0.46315	1.602000	0.36783	2.676000	0.91093	0.655000	0.94253	CTC		0.488	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		17	396	1	0	5.03518e-11	1	5.3609e-11	17	396				
SLITRK2	84631	broad.mit.edu	37	X	144906288	144906288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:144906288G>A	ENST00000370490.1	+	1	6600	c.2345G>A	c.(2344-2346)aGg>aAg	p.R782K	SLITRK2_ENST00000434188.2_Missense_Mutation_p.R782K|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	782					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TTACCTAAAAGGCAGTTTGCC	0.458																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2344-2346)aGg>aAg		SLIT and NTRK-like family, member 2							140.0	129.0	132.0					X																	144906288		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906288G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2345G>A	X.37:g.144906288G>A	ENSP00000359521:p.Arg782Lys					SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K	p.R782K			Q9H156	SLIK2_HUMAN			1	6600	+	Acute lymphoblastic leukemia(192;6.56e-05)		782					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2345G>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934289	0.34096	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.38	5.38	0.77491	.	0.103397	0.64402	D	0.000004	T	0.33789	0.0875	N	0.22421	0.69	0.43879	D	0.996496	B	0.09022	0.002	B	0.04013	0.001	T	0.13098	-1.0522	10	0.15066	T	0.55	-2.9919	15.4932	0.75629	0.0:0.0:1.0:0.0	.	782	Q9H156	SLIK2_HUMAN	K	782	ENSP00000411681:R782K;ENSP00000359521:R782K;ENSP00000397015:R782K;ENSP00000407347:R782K;ENSP00000412010:R782K	ENSP00000359521:R782K	R	+	2	0	SLITRK2	144713980	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.352000	0.66028	2.251000	0.74343	0.600000	0.82982	AGG		0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		29	761	0	0	0	1	0	29	761				
XPR1	9213	broad.mit.edu	37	1	180794394	180794394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180794394G>A	ENST00000367590.4	+	9	1246	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	XPR1_ENST00000367589.3_Missense_Mutation_p.A350T|AL590085.1_ENST00000579998.1_RNA	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	350					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTATCCACTTGCCCTTTATGG	0.433																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1048-1050)Gcc>Acc		xenotropic and polytropic retrovirus receptor 1							189.0	184.0	186.0					1																	180794394		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180794394G>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1048G>A	1.37:g.180794394G>A	ENSP00000356562:p.Ala350Thr					XPR1_ENST00000367589.3_Missense_Mutation_p.A350T	p.A350T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			9	1246	+			350					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1048G>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981401	0.34942	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42900	0.96;0.96	5.52	5.52	0.82312	EXS, C-terminal (1);	0.344782	0.32093	N	0.006588	T	0.32585	0.0834	L	0.39566	1.225	0.33990	D	0.649014	B;B	0.22146	0.006;0.065	B;B	0.25759	0.025;0.063	T	0.40942	-0.9536	10	0.37606	T	0.19	-0.4905	7.5937	0.28035	0.2017:0.0:0.7983:0.0	.	350;350	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	T	350	ENSP00000356562:A350T;ENSP00000356561:A350T	ENSP00000356561:A350T	A	+	1	0	XPR1	179061017	0.857000	0.29778	0.997000	0.53966	0.995000	0.86356	2.800000	0.47900	2.587000	0.87381	0.557000	0.71058	GCC		0.433	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		213	599	0	0	0	1	0	213	599				
TP53BP2	7159	broad.mit.edu	37	1	223983554	223983554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223983554C>T	ENST00000343537.7	-	13	2978	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.R767H|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	890	Mediates interaction with APC2.|Pro-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCAGGCGGGCGCATGCTCAC	0.537																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(2299-2301)cGc>cAc		tumor protein p53 binding protein, 2							55.0	61.0	59.0					1																	223983554		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223983554C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2687G>A	1.37:g.223983554C>T	ENSP00000341957:p.Arg896His					TP53BP2_ENST00000343537.7_Missense_Mutation_p.R896H|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H|TP53BP2_ENST00000498843.1_5'UTR	p.R767H	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	14	3068	-			890					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2300G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606642	0.66558	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.50548	0.83;1.0;0.74	5.37	4.46	0.54185	Src homology-3 domain (1);	0.268229	0.43260	N	0.000590	T	0.46308	0.1386	L	0.48362	1.52	0.47584	D	0.999461	P;P	0.50943	0.94;0.94	P;P	0.45639	0.488;0.488	T	0.43956	-0.9359	10	0.44086	T	0.13	.	13.9612	0.64180	0.0:0.9267:0.0:0.0733	.	896;890	B4DG66;Q13625	.;ASPP2_HUMAN	H	767;896;129	ENSP00000375750:R767H;ENSP00000341957:R896H;ENSP00000375751:R129H	ENSP00000341957:R896H	R	-	2	0	TP53BP2	222050177	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.469000	0.53093	1.272000	0.44329	0.563000	0.77884	CGC		0.537	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		93	356	0	0	0	1	0	93	356				
CACNB2	783	broad.mit.edu	37	10	18828568	18828568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828568G>A	ENST00000324631.7	+	14	1958	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	CACNB2_ENST00000396576.2_Missense_Mutation_p.R578H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	633					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1732-1734)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69.0	64.0	66.0					10																	18828568		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828568G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1898G>A	10.37:g.18828568G>A	ENSP00000320025:p.Arg633His					CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R633H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H	p.R578H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2234	+			633					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1733G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743626	0.69418	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.85;1.95;-2.07;-1.84;1.95;-1.96;-1.98;-1.96;-1.96	5.7	5.7	0.88788	.	0.402357	0.29900	N	0.010916	D	0.88209	0.6375	L	0.50333	1.59	0.58432	D	0.999999	P;P;D;P;D;P;D;P;D;P;D;D;D	0.89917	0.63;0.924;1.0;0.924;0.987;0.955;0.969;0.746;0.974;0.955;0.993;0.992;0.969	B;P;P;B;P;P;P;B;P;P;P;P;P	0.62560	0.217;0.468;0.904;0.344;0.668;0.669;0.468;0.388;0.55;0.669;0.681;0.822;0.468	D	0.88470	0.3061	10	0.87932	D	0	-14.0587	10.8677	0.46864	0.1137:0.0:0.8863:0.0	.	547;605;383;585;555;579;589;540;581;605;595;609;633	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	633;609;383;605;581;578;540;579;585	ENSP00000320025:R633H;ENSP00000344474:R609H;ENSP00000366545:R383H;ENSP00000282343:R605H;ENSP00000366548:R581H;ENSP00000379821:R578H;ENSP00000366536:R540H;ENSP00000366546:R579H;ENSP00000366532:R585H	ENSP00000282343:R605H	R	+	2	0	CACNB2	18868574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.756000	0.55205	2.703000	0.92315	0.655000	0.94253	CGC		0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		68	375	0	0	0	1	0	68	375				
GLTSCR1L	23506	broad.mit.edu	37	6	42796339	42796339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42796339G>A	ENST00000314073.5	+	6	444	c.268G>A	c.(268-270)Gag>Aag	p.E90K	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.E90K			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	90																	AGATGAACTCGAGTCTTCTCC	0.473																																						ENST00000314073.5																			0											c.(268-270)Gag>Aag		GLTSCR1-like							120.0	103.0	109.0					6																	42796339		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42796339G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.268G>A	6.37:g.42796339G>A	ENSP00000313933:p.Glu90Lys					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.E90K	p.E90K							6	444	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.268G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905737	0.52333	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.46063	0.88;0.88	5.81	5.81	0.92471	.	0.174851	0.40469	N	0.001081	T	0.26159	0.0638	L	0.36672	1.1	0.51482	D	0.999926	P;D;D	0.60160	0.681;0.975;0.987	B;B;P	0.45343	0.232;0.381;0.477	T	0.02797	-1.1109	10	0.10636	T	0.68	-23.7639	20.4375	0.99097	0.0:0.0:1.0:0.0	.	90;90;90	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	K	90	ENSP00000313933:E90K;ENSP00000377723:E90K	ENSP00000313933:E90K	E	+	1	0	KIAA0240	42904317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.857000	0.92250	2.906000	0.99361	0.655000	0.94253	GAG		0.473	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		65	242	0	0	0	1	0	65	242				
MECOM	2122	broad.mit.edu	37	3	168819903	168819903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168819903G>A	ENST00000464456.1	-	9	3325	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000472280.1_Missense_Mutation_p.P719S|MECOM_ENST00000433243.2_Missense_Mutation_p.P719S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000494292.1_Missense_Mutation_p.P897S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGGGCATTGGGAGGCGCCCTG	0.512																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2125-2127)Ccc>Tcc		MDS1 and EVI1 complex locus							75.0	70.0	72.0					3																	168819903		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819903G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2125C>T	3.37:g.168819903G>A	ENSP00000419770:p.Pro709Ser					MECOM_ENST00000472280.1_Missense_Mutation_p.P719S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S|MECOM_ENST00000494292.1_Missense_Mutation_p.P897S|MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S|MECOM_ENST00000433243.2_Missense_Mutation_p.P719S	p.P709S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3325	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2125C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562745	0.13498	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.08282	3.21;3.21;3.12;3.31;3.12;3.21;3.11;3.31	5.45	5.45	0.79879	.	0.088883	0.49916	D	0.000133	T	0.04770	0.0129	N	0.14661	0.345	0.52099	D	0.999948	B;B;B;B;B	0.16166	0.016;0.013;0.005;0.016;0.009	B;B;B;B;B	0.17722	0.019;0.007;0.008;0.01;0.004	T	0.17745	-1.0359	10	0.02654	T	1	-11.5724	12.9639	0.58473	0.074:0.0:0.926:0.0	.	906;710;897;783;718	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	783;718;709;719;897;718;709;719	ENSP00000264674:P783S;ENSP00000376493:P718S;ENSP00000419770:P709S;ENSP00000420048:P719S;ENSP00000417899:P897S;ENSP00000419995:P718S;ENSP00000420466:P709S;ENSP00000394302:P719S	ENSP00000264674:P783S	P	-	1	0	MECOM	170302597	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	6.367000	0.73099	2.730000	0.93505	0.655000	0.94253	CCC		0.512	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		34	206	0	0	0	1	0	34	206				
HNRNPM	4670	broad.mit.edu	37	19	8555240	8555240	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555240C>T	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Missense_Mutation_p.D652N|PRAM1_ENST00000423345.4_Missense_Mutation_p.D653N	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCGACATCATCGTACACCTCC	0.662																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1957-1959)Gat>Aat		PML-RARA regulated adaptor molecule 1							60.0	67.0	65.0					19																	8555240		2167	4255	6422	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555240C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555240C>T						PRAM1_ENST00000255612.3_Missense_Mutation_p.D652N	p.D653N			Q96QH2	PRAM_HUMAN			9	2477	-			701			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1957G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853240	0.51270	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.43688	0.94;0.94	4.47	4.47	0.54385	.	0.000000	0.39274	N	0.001417	T	0.48277	0.1491	N	0.24115	0.695	0.42879	D	0.994165	D;D	0.76494	0.998;0.999	D;D	0.70227	0.966;0.968	T	0.52624	-0.8551	10	0.87932	D	0	.	12.8225	0.57700	0.0:1.0:0.0:0.0	.	653;701	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	N	652;653	ENSP00000255612:D652N;ENSP00000408342:D653N	ENSP00000255612:D652N	D	-	1	0	PRAM1	8461240	0.586000	0.26782	0.633000	0.29310	0.025000	0.11179	3.641000	0.54360	2.470000	0.83445	0.462000	0.41574	GAT		0.662	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			54	210	0	0	0	1	0	54	210				
ITPR1	3708	broad.mit.edu	37	3	4836804	4836804	+	Silent	SNP	G	G	A	rs370852124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4836804G>A	ENST00000443694.2	+	50	6819	c.6819G>A	c.(6817-6819)tcG>tcA	p.S2273S	ITPR1_ENST00000357086.4_Silent_p.S2240S|ITPR1_ENST00000354582.6_Silent_p.S2273S|ITPR1_ENST00000456211.2_Silent_p.S2225S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.S2273S|ITPR1_ENST00000423119.2_Silent_p.S2240S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCAGCATTTCGTTTAACCTGG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17011	0.0		0.0	False		,,,				2504	0.0					ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(6817-6819)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 1		G	,,	1,4107		0,1,2053	127.0	124.0	125.0		6720,6819,6675	-5.7	0.0	3		125	0,8402		0,0,4201	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	0,1,6254	AA,AG,GG		0.0,0.0243,0.0080	,,	2240/2711,2273/2744,2225/2696	4836804	1,12509	2054	4201	6255	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4836804G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6819G>A	3.37:g.4836804G>A						ITPR1_ENST00000302640.8_Silent_p.S2273S|ITPR1_ENST00000443694.2_Silent_p.S2273S|ITPR1_ENST00000357086.4_Silent_p.S2240S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Silent_p.S2240S|ITPR1_ENST00000456211.2_Silent_p.S2225S	p.S2273S			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	52	7169	+			2288					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.6819G>A	CCDS54551.1																																																																																				0.522	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		28	110	0	0	0	1	0	28	110				
GALNT7	51809	broad.mit.edu	37	4	174235199	174235199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174235199G>A	ENST00000265000.4	+	9	1563	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	494					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCATATGGGGATATATCGGA	0.373																																						ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1480-1482)Gat>Aat		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)							92.0	92.0	92.0					4																	174235199		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174235199G>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1480G>A	4.37:g.174235199G>A	ENSP00000265000:p.Asp494Asn						p.D494N	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	9	1563	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	494					B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1480G>A	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.444255|5.444255	0.96187|0.96187	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|T	0.66280|0.66995	-0.2|-0.24	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78027|0.78027	0.4219|0.4219	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	D|.	0.59357|.	0.985|.	P|.	0.48921|.	0.595|.	T|T	0.79230|0.79230	-0.1889|-0.1889	10|7	0.46703|0.87932	T|D	0.11|0	.|.	19.605|19.605	0.95577|0.95577	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	494|.	Q86SF2|.	GALT7_HUMAN|.	N|E	494|64	ENSP00000265000:D494N|ENSP00000427341:G64E	ENSP00000265000:D494N|ENSP00000427341:G64E	D|G	+|+	1|2	0|0	GALNT7|GALNT7	174471774|174471774	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.885000|0.885000	0.51271|0.51271	9.869000|9.869000	0.99810|0.99810	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.373	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		85	385	0	0	0	1	0	85	385				
VN1R2	317701	broad.mit.edu	37	19	53762652	53762652	+	Missense_Mutation	SNP	G	G	A	rs377201936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762652G>A	ENST00000341702.3	+	1	1108	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	342					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGCTCTCTTCGATAATTCCAG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21784	0.0		0.0	False		,,,				2504	0.001					ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1024-1026)Gat>Aat		vomeronasal 1 receptor 2		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	256.0	229.0	238.0		1024	-1.0	0.0	19		238	0,8600		0,0,4300	no	missense	VN1R2	NM_173856.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	342/396	53762652	1,13005	2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762652G>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1024G>A	19.37:g.53762652G>A	ENSP00000351244:p.Asp342Asn					VN1R2_ENST00000598458.1_Intron	p.D342N	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1108	+			342					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.1024G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933902	0.18206	2.27E-4	0.0	ENSG00000196131	ENST00000341702	T	0.37058	1.22	2.79	-0.988	0.10245	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14313	0.0346	N	0.12637	0.245	0.09310	N	1	P	0.37663	0.604	B	0.34452	0.183	T	0.18147	-1.0346	9	0.16420	T	0.52	.	3.4714	0.07569	0.1348:0.0:0.4225:0.4427	.	342	Q8NFZ6	VN1R2_HUMAN	N	342	ENSP00000351244:D342N	ENSP00000351244:D342N	D	+	1	0	VN1R2	58454464	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-2.130000	0.01312	-0.080000	0.12685	0.590000	0.80494	GAT		0.463	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		206	866	0	0	0	1	0	206	866				
ZNF845	91664	broad.mit.edu	37	19	53854087	53854087	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854087C>T	ENST00000595091.1	+	5	378	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ZNF845_ENST00000458035.1_Silent_p.C53C			Q96IR2	ZN845_HUMAN	zinc finger protein 845	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTCCAAATGCATGATGAAGG	0.353																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(157-159)tgC>tgT		zinc finger protein 845							36.0	25.0	29.0					19																	53854087		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854087C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.159C>T	19.37:g.53854087C>T						ZNF845_ENST00000595091.1_Silent_p.C53C	p.C53C	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	276	+			53			KRAB.			Silent	SNP	ENST00000595091.1	37	c.159C>T	CCDS46170.1																																																																																				0.353	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		98	483	0	0	0	1	0	98	483				
A2M	2	broad.mit.edu	37	12	9243824	9243824	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9243824G>T	ENST00000318602.7	-	19	2749	c.2442C>A	c.(2440-2442)gtC>gtA	p.V814V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	814					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGTAGTTTAGGACCGTGGCCT	0.463																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2440-2442)gtC>gtA		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						108.0	108.0	108.0					12																	9243824		2203	4300	6503	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9243824G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2442C>A	12.37:g.9243824G>T							p.V814V	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			19	2749	-			814					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.2442C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.118899	0.01785	.	.	ENSG00000175899	ENST00000543436	.	.	.	5.28	-4.8	0.03190	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.47094	D	0.99931	.	.	.	.	.	.	T	0.32107	-0.9919	4	.	.	.	.	3.2875	0.06937	0.1842:0.4367:0.2049:0.1742	.	.	.	.	Y	62	.	.	S	-	2	0	A2M	9135091	0.814000	0.29104	0.001000	0.08648	0.047000	0.14425	-0.028000	0.12350	-1.604000	0.01595	-0.471000	0.05019	TCC		0.463	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		13	389	1	0	0.000219431	1	0.000222766	13	389				
ARHGEF26	26084	broad.mit.edu	37	3	153973185	153973185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153973185G>A	ENST00000356448.4	+	15	2823	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E847K|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	847	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ATGTGCCAAGGAGATAACATG	0.458																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(2539-2541)Gag>Aag		Rho guanine nucleotide exchange factor (GEF) 26							154.0	150.0	152.0					3																	153973185		1967	4149	6116	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153973185G>A	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2539G>A	3.37:g.153973185G>A	ENSP00000348828:p.Glu847Lys					ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E847K|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000483068.1_3'UTR	p.E847K	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			15	2823	+			847			SH3.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.2539G>A	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776685	0.90195	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.31247	1.5;1.5	5.91	5.91	0.95273	Src homology-3 domain (3);	0.169745	0.52532	D	0.000066	T	0.37265	0.0997	L	0.49126	1.545	0.80722	D	1	D	0.56521	0.976	P	0.47206	0.541	T	0.02411	-1.1163	10	0.21014	T	0.42	-38.2716	19.8936	0.96942	0.0:0.0:1.0:0.0	.	847	Q96DR7	ARHGQ_HUMAN	K	847	ENSP00000348828:E847K;ENSP00000423418:E847K	ENSP00000348828:E847K	E	+	1	0	ARHGEF26	155455879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.462000	0.66707	2.793000	0.96121	0.655000	0.94253	GAG		0.458	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		39	312	0	0	0	1	0	39	312				
AGBL5	60509	broad.mit.edu	37	2	27282095	27282095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27282095C>T	ENST00000360131.4	+	11	2071	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W|AGBL5-IT1_ENST00000411862.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	638					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTGAGTCGGGCACGAAG	0.532																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(1912-1914)Cgg>Tgg		ATP/GTP binding protein-like 5							79.0	87.0	84.0					2																	27282095		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27282095C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1912C>T	2.37:g.27282095C>T	ENSP00000353249:p.Arg638Trp					AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W	p.R638W	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			11	2071	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		638					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.1912C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002345	0.74932	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.18657	2.3;2.2	5.76	4.89	0.63831	.	0.110266	0.64402	D	0.000005	T	0.39009	0.1062	L	0.53249	1.67	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.19160	-1.0314	10	0.87932	D	0	-29.0721	9.6109	0.39663	0.14:0.7885:0.0:0.0715	.	638;638	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	W	638	ENSP00000323681:R638W;ENSP00000353249:R638W	ENSP00000323681:R638W	R	+	1	2	AGBL5	27135599	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	1.550000	0.36223	1.436000	0.47453	0.655000	0.94253	CGG		0.532	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		166	757	0	0	0	1	0	166	757				
MSH6	2956	broad.mit.edu	37	2	48018178	48018178	+	Nonsense_Mutation	SNP	A	A	T	rs372352774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48018178A>T	ENST00000234420.5	+	2	525	c.373A>T	c.(373-375)Aaa>Taa	p.K125*	MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	125	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAGAAAGGGAAATCAGTCCG	0.478			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(373-375)Aaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							121.0	117.0	118.0					2																	48018178		2203	4300	6503	SO:0001587	stop_gained	2956	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	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48018178A>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.373A>T	2.37:g.48018178A>T	ENSP00000234420:p.Lys125*					FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR	p.K125*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	525	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	125			PWWP.		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	c.373A>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165162	0.94768	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	.	.	.	5.77	5.77	0.91146	.	0.170355	0.51477	D	0.000100	.	.	.	.	.	.	0.47009	D	0.999281	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9904	16.0985	0.81148	1.0:0.0:0.0:0.0	.	.	.	.	X	125;123;125;26;26;26	.	ENSP00000234420:K125X	K	+	1	0	MSH6	47871682	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	6.657000	0.74402	2.197000	0.70478	0.455000	0.32223	AAA		0.478	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		148	379	0	0	0	1	0	148	379				
IGSF9B	22997	broad.mit.edu	37	11	133801989	133801989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133801989C>T	ENST00000321016.8	-	8	1317	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G363S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	363	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGGGACGGCCGTCCTTGTTC	0.607																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1087-1089)Ggc>Agc		immunoglobulin superfamily, member 9B							69.0	86.0	80.0					11																	133801989		2138	4228	6366	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133801989C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1087G>A	11.37:g.133801989C>T	ENSP00000317980:p.Gly363Ser					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G363S	p.G363S			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	8	1317	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	363			Ig-like 4.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1087G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.279030	0.95489	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	D;D;D	0.81821	-1.54;-1.54;-1.54	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91064	0.7188	M	0.86864	2.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92249	0.5807	9	0.62326	D	0.03	.	18.2442	0.89979	0.0:1.0:0.0:0.0	.	363	Q9UPX0	TUTLB_HUMAN	S	363;205;363	ENSP00000317980:G363S;ENSP00000436552:G205S;ENSP00000436576:G363S	ENSP00000317980:G363S	G	-	1	0	IGSF9B	133307199	1.000000	0.71417	0.985000	0.45067	0.654000	0.38779	7.648000	0.83479	2.535000	0.85469	0.556000	0.70494	GGC		0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	163	0	0	0	1	0	5	163				
CSMD3	114788	broad.mit.edu	37	8	113237091	113237091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113237091T>G	ENST00000297405.5	-	71	11277	c.11033A>C	c.(11032-11034)gAa>gCa	p.E3678A	CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3678						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGGGATTTTCAAAAGCTGC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(11032-11034)gAa>gCa		CUB and Sushi multiple domains 3							375.0	334.0	348.0					8																	113237091		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237091T>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11033A>C	8.37:g.113237091T>G	ENSP00000297405:p.Glu3678Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A	p.E3678A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			71	11277	-			3678					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11033A>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128914	0.77549	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.41400	1.36;1.34;1.44;1.0;1.4	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.65606	0.2707	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.961	D;D;P	0.80764	0.994;0.986;0.712	T	0.69548	-0.5116	10	0.87932	D	0	.	16.1416	0.81528	0.0:0.0:0.0:1.0	.	3509;3678;3638	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3638;3678;2948;3509;3608	ENSP00000345799:E3638A;ENSP00000297405:E3678A;ENSP00000341558:E2948A;ENSP00000412263:E3509A;ENSP00000343124:E3608A	ENSP00000297405:E3678A	E	-	2	0	CSMD3	113306267	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.920000	0.87521	2.209000	0.71365	0.482000	0.46254	GAA		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		111	542	0	0	0	1	0	111	542				
LZTS2	84445	broad.mit.edu	37	10	102766458	102766458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766458C>T	ENST00000370220.1	+	4	4606	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAGCTGCAGCGACACCGCCA	0.701																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1543-1545)Cga>Tga		leucine zipper, putative tumor suppressor 2							10.0	13.0	12.0					10																	102766458		2190	4287	6477	SO:0001587	stop_gained	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102766458C>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1543C>T	10.37:g.102766458C>T	ENSP00000359240:p.Arg515*					LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*	p.R515*			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	4	4606	+			515			Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).			Nonsense_Mutation	SNP	ENST00000370220.1	37	c.1543C>T	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	57	28.821900	0.99974	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9984	14.1048	0.65080	0.151:0.849:0.0:0.0	.	.	.	.	X	515	.	ENSP00000314437:R515X	R	+	1	2	LZTS2	102756448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.653000	0.46691	2.677000	0.91161	0.561000	0.74099	CGA		0.701	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		24	95	0	0	0	1	0	24	95				
EPG5	57724	broad.mit.edu	37	18	43450702	43450702	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43450702G>A	ENST00000282041.5	-	36	6089	c.6055C>T	c.(6055-6057)Ctg>Ttg	p.L2019L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2019					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTGGCAACAGCTTATCTAGA	0.373																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(6055-6057)Ctg>Ttg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							68.0	66.0	67.0					18																	43450702		1890	4105	5995	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43450702G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6055C>T	18.37:g.43450702G>A						EPG5_ENST00000585906.1_5'UTR	p.L2019L	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			36	6089	-			2019					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.6055C>T	CCDS11926.2																																																																																				0.373	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		39	176	0	0	0	1	0	39	176				
ICE2	79664	broad.mit.edu	37	15	60724161	60724161	+	Missense_Mutation	SNP	G	G	A	rs531287375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60724161G>A	ENST00000261520.4	-	14	2767	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F	NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATGTGTTGGAGGATGTTAAAT	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		12634	0.0		0.0	False		,,,				2504	0.001					ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(2533-2535)Ctc>Ttc		NMDA receptor regulated 2							53.0	61.0	58.0					15																	60724161		2199	4285	6484	SO:0001583	missense	79664					nucleus		g.chr15:60724161G>A																												ENST00000261520.4:c.2533C>T	15.37:g.60724161G>A	ENSP00000261520:p.Leu845Phe					NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	p.L845F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			14	2767	-			845						Missense_Mutation	SNP	ENST00000261520.4	37	c.2533C>T	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102634	0.76983	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.89	4.89	0.63831	NMDA receptor-regulated gene protein 2 (1);	0.146650	0.47455	D	0.000237	T	0.77384	0.4122	M	0.65498	2.005	0.45118	D	0.998131	D	0.89917	1.0	D	0.91635	0.999	T	0.79612	-0.1731	9	0.87932	D	0	-9.5329	15.8264	0.78709	0.0:0.0:1.0:0.0	.	845	Q659A1	NARG2_HUMAN	F	845;708	.	ENSP00000261520:L845F	L	-	1	0	NARG2	58511453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.475000	0.45162	2.639000	0.89480	0.650000	0.86243	CTC		0.279	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			17	112	0	0	0	1	0	17	112				
NT5DC2	64943	broad.mit.edu	37	3	52561315	52561315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52561315G>A	ENST00000307076.4	-	10	1403	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	335							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTTACCTGCCGATAGATCTTG	0.592																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(1003-1005)Cgg>Tgg		5'-nucleotidase domain containing 2							97.0	96.0	96.0					3																	52561315		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52561315G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1003C>T	3.37:g.52561315G>A	ENSP00000302468:p.Arg335Trp					NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W	p.R335W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	10	1403	-			335					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.1003C>T	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.133453|4.133453	0.77662|0.77662	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839|ENST00000489316	T;T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92;1.92|.	5.45|5.45	5.45|5.45	0.79879|0.79879	HAD-like domain (2);|.	0.052775|.	0.64402|.	D|.	0.000001|.	T|T	0.52661|0.52661	0.1748|0.1748	L|L	0.40543|0.40543	1.245|1.245	0.35708|0.35708	D|D	0.816193|0.816193	D;D;D|.	0.57899|.	0.981;0.981;0.981|.	P;B;B|.	0.56788|.	0.806;0.401;0.401|.	T|T	0.59037|0.59037	-0.7529|-0.7529	10|5	0.38643|.	T|.	0.18|.	-25.4436|-25.4436	12.4633|12.4633	0.55743|0.55743	0.0:0.0:0.7183:0.2817|0.0:0.0:0.7183:0.2817	.|.	347;335;372|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	W|L	276;49;335;372;347|256	ENSP00000306017:R276W;ENSP00000418780:R49W;ENSP00000302468:R335W;ENSP00000406933:R372W;ENSP00000419547:R347W|.	ENSP00000302468:R335W|.	R|S	-|-	1|2	2|0	NT5DC2|NT5DC2	52536355|52536355	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.907000|0.907000	0.53573|0.53573	4.461000|4.461000	0.60115|0.60115	2.580000|2.580000	0.87095|0.87095	0.555000|0.555000	0.69702|0.69702	CGG|TCG		0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		33	179	0	0	0	1	0	33	179				
FLT4	2324	broad.mit.edu	37	5	180056812	180056812	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180056812G>T	ENST00000261937.6	-	6	778	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	FLT4_ENST00000393347.3_Missense_Mutation_p.L234M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	234	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCAACAGCTGGATGTCA	0.592																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(700-702)Ctg>Atg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						75.0	65.0	69.0					5																	180056812		2199	4297	6496	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056812G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.700C>A	5.37:g.180056812G>T	ENSP00000261937:p.Leu234Met					FLT4_ENST00000393347.3_Missense_Mutation_p.L234M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M	p.L234M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	6	778	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	234			Ig-like C2-type 3.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.700C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069511	0.55539	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.78924	-1.22;-1.22;-1.22	4.91	4.03	0.46877	Immunoglobulin-like (1);	.	.	.	.	D	0.84579	0.5503	M	0.66939	2.045	0.51482	D	0.999927	D;D;D;D	0.89917	1.0;1.0;0.975;0.975	D;D;D;D	0.97110	0.999;1.0;0.951;0.934	D	0.83885	0.0281	9	0.49607	T	0.09	.	9.3967	0.38406	0.0754:0.0:0.7799:0.1447	.	234;234;234;234	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	M	234;234;234;44	ENSP00000261937:L234M;ENSP00000377016:L234M;ENSP00000426057:L234M	ENSP00000261937:L234M	L	-	1	2	FLT4	179989418	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.092000	0.64511	1.190000	0.43042	-0.310000	0.09108	CTG		0.592	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			34	99	1	0	1.62565e-12	1	1.74646e-12	34	99				
ABCC12	94160	broad.mit.edu	37	16	48138236	48138236	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48138236C>T	ENST00000311303.3	-	20	3062	c.2717G>A	c.(2716-2718)gGc>gAc	p.G906D	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	906	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CATTAGCCTGCCAGTGGGAGT	0.473																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2716-2718)gGc>gAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							117.0	111.0	113.0					16																	48138236		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138236C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2717G>A	16.37:g.48138236C>T	ENSP00000311030:p.Gly906Asp					ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	p.G906D	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			20	3062	-		all_cancers(37;0.0474)|all_lung(18;0.047)	906			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2717G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910898	0.92178	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.97772	-4.53	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.103764	0.64402	D	0.000003	D	0.99089	0.9687	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99414	1.0931	10	0.87932	D	0	.	16.4256	0.83813	0.0:1.0:0.0:0.0	.	906	Q96J65	MRP9_HUMAN	D	906;824	ENSP00000311030:G906D	ENSP00000311030:G906D	G	-	2	0	ABCC12	46695737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.840000	0.75369	2.594000	0.87642	0.655000	0.94253	GGC		0.473	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		16	611	0	0	0	1	0	16	611				
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15260573G>A	ENST00000379554.3	+	11	1533	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.R449H|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000424273.1_Missense_Mutation_p.R407H|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|INSC_ENST00000525218.1_Missense_Mutation_p.R407H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	496					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1486-1488)cGt>cAt		inscuteable homolog (Drosophila)							51.0	53.0	52.0					11																	15260573		2086	4206	6292	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260573G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1487G>A	11.37:g.15260573G>A	ENSP00000368872:p.Arg496His					INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.R407H|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000528567.1_Missense_Mutation_p.R449H|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|INSC_ENST00000525218.1_Missense_Mutation_p.R407H	p.R496H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			11	1533	+			496					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1487G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357252	0.95854	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69654	-0.5087	10	0.72032	D	0.01	-10.436	19.7365	0.96208	0.0:0.0:1.0:0.0	.	484;407;449;496	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	496;449;407;449;449;407	ENSP00000368872:R496H;ENSP00000368874:R449H;ENSP00000389161:R407H;ENSP00000435022:R449H;ENSP00000436194:R449H;ENSP00000436113:R407H	ENSP00000368872:R496H	R	+	2	0	INSC	15217149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.672000	0.90937	0.655000	0.94253	CGT		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		7	226	0	0	0	1	0	7	226				
PTGER3	5733	broad.mit.edu	37	1	71512538	71512538	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71512538C>T	ENST00000306666.5	-	1	933	c.723G>A	c.(721-723)gcG>gcA	p.A241A	ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A|PTGER3_ENST00000370924.4_Silent_p.A241A|PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	241					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGACTGTCAGCGCCAAGAGCC	0.632																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(721-723)gcG>gcA		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						94.0	92.0	92.0					1																	71512538		2203	4300	6503	SO:0001819	synonymous_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512538C>T	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.723G>A	1.37:g.71512538C>T						PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A|PTGER3_ENST00000306666.5_Silent_p.A241A|PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A|PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A	p.A241A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	953	-			241					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	37	c.723G>A	CCDS657.1																																																																																				0.632	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		53	530	0	0	0	1	0	53	530				
TACC2	10579	broad.mit.edu	37	10	123842597	123842597	+	Silent	SNP	C	C	T	rs559804804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842597C>T	ENST00000369005.1	+	4	922	c.582C>T	c.(580-582)atC>atT	p.I194I	TACC2_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.I194I|TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000453444.2_Silent_p.I194I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	194					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGTGGCATCGACCAGTCAC	0.567																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(580-582)atC>atT		transforming, acidic coiled-coil containing protein 2							32.0	30.0	31.0					10																	123842597		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842597C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.582C>T	10.37:g.123842597C>T						TACC2_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.I194I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.I194I	p.I194I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	922	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	194					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.582C>T	CCDS7626.1																																																																																				0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			17	171	0	0	0	1	0	17	171				
MYCBP2	23077	broad.mit.edu	37	13	77672965	77672965	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77672965T>C	ENST00000544440.2	-	56	8227	c.8210A>G	c.(8209-8211)gAt>gGt	p.D2737G	MYCBP2_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2775G|MYCBP2_ENST00000482517.1_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)		CTTTGCAGCATCAGATTTTAA	0.463																																						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.(8323-8325)gAt>gGt		MYC binding protein 2, E3 ubiquitin protein ligase							134.0	122.0	126.0					13																	77672965		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672965T>C	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.8210A>G	13.37:g.77672965T>C	ENSP00000444596:p.Asp2737Gly					MYCBP2_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D2737G|MYCBP2_ENST00000482517.1_5'UTR	p.D2775G	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	8590	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2737			Ser-rich.			Missense_Mutation	SNP	ENST00000544440.2	37	c.8324A>G		.	.	.	.	.	.	.	.	.	.	T	15.17	2.754548	0.49362	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.56103	1.42;1.41;1.42;0.48	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.996;0.993	D;D;D	0.81914	0.995;0.993;0.971	T	0.63571	-0.6607	10	0.51188	T	0.08	.	15.9579	0.79902	0.0:0.0:0.0:1.0	.	123;2737;2737	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	G	2737;2775;2737;260	ENSP00000349892:D2737G;ENSP00000384288:D2775G;ENSP00000444596:D2737G;ENSP00000353197:D260G	ENSP00000349892:D2737G	D	-	2	0	MYCBP2	76570966	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.698000	0.84413	2.178000	0.69098	0.533000	0.62120	GAT		0.463	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		19	513	0	0	0	1	0	19	513				
GPRIN2	9721	broad.mit.edu	37	10	46999326	46999326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999326G>A	ENST00000374317.1	+	3	719	c.446G>A	c.(445-447)aGc>aAc	p.S149N	GPRIN2_ENST00000374314.4_Missense_Mutation_p.S149N	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	149										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTTGGCAGCAGCCCTGTCCAC	0.642																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(445-447)aGc>aAc		G protein regulated inducer of neurite outgrowth 2							38.0	32.0	34.0					10																	46999326		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999326G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.446G>A	10.37:g.46999326G>A	ENSP00000363436:p.Ser149Asn					GPRIN2_ENST00000374317.1_Missense_Mutation_p.S149N	p.S149N			O60269	GRIN2_HUMAN			1	1401	+			149					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.446G>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108281	0.37242	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.04234	3.67;3.67	5.41	2.53	0.30540	.	0.875658	0.09507	N	0.792806	T	0.12774	0.0310	M	0.65975	2.015	0.18873	N	0.999989	D	0.61080	0.989	P	0.58266	0.836	T	0.21861	-1.0233	10	0.33940	T	0.23	-2.5873	5.3762	0.16166	0.0:0.6485:0.1713:0.1803	.	149	O60269	GRIN2_HUMAN	N	149	ENSP00000363436:S149N;ENSP00000363433:S149N	ENSP00000363433:S149N	S	+	2	0	GPRIN2	46419332	0.007000	0.16637	0.068000	0.19968	0.665000	0.39181	0.497000	0.22514	0.785000	0.33685	-0.153000	0.13522	AGC		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		22	169	0	0	0	1	0	22	169				
MEN1	4221	broad.mit.edu	37	11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64573758C>T	ENST00000337652.1	-	7	1513	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	337	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1009-1011)cGc>cAc		multiple endocrine neoplasia I							211.0	183.0	192.0					11																	64573758		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64573758C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1010G>A	11.37:g.64573758C>T	ENSP00000337088:p.Arg337His		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H	p.R337H	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			7	1513	-			337			Interaction with FANCD2.		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1010G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991942	0.74703	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873	D;D;D;D;D;D;D;D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92	3.92	3.92	0.45320	.	0.139807	0.41712	U	0.000830	D	0.98729	0.9573	L	0.43152	1.355	0.41578	D	0.988725	D;D;D	0.76494	0.999;0.991;0.999	P;P;P	0.60012	0.791;0.796;0.867	D	0.97955	1.0334	10	0.46703	T	0.11	-14.869	7.8854	0.29646	0.0:0.8839:0.0:0.1161	.	332;297;337	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	332;297;332;332;332;337;337;337;337;337;332	ENSP00000366533:R332H;ENSP00000366538:R297H;ENSP00000366543:R332H;ENSP00000308975:R332H;ENSP00000323747:R332H;ENSP00000337088:R337H;ENSP00000377901:R337H;ENSP00000377899:R337H;ENSP00000396940:R337H;ENSP00000366530:R337H;ENSP00000413944:R332H	ENSP00000308975:R332H	R	-	2	0	MEN1	64330334	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.274000	0.43390	1.927000	0.55829	0.456000	0.33151	CGC		0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			152	554	0	0	0	1	0	152	554				
MRPL38	64978	broad.mit.edu	37	17	73897891	73897891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73897891C>T	ENST00000309352.3	-	4	1030	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	165						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAAGGTGGCACCGTGGAAC	0.627																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(493-495)Gcc>Acc		mitochondrial ribosomal protein L38							80.0	60.0	67.0					17																	73897891		2203	4300	6503	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73897891C>T	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.493G>A	17.37:g.73897891C>T	ENSP00000308275:p.Ala165Thr					MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	p.A165T	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	1030	-			165					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.493G>A	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331508	0.81690	.	.	ENSG00000204316	ENST00000309352	T	0.23552	1.9	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63143	-0.6703	10	0.87932	D	0	0.849	19.23	0.93834	0.0:1.0:0.0:0.0	.	165	Q96DV4	RM38_HUMAN	T	165	ENSP00000308275:A165T	ENSP00000308275:A165T	A	-	1	0	MRPL38	71409486	1.000000	0.71417	0.982000	0.44146	0.117000	0.20001	7.349000	0.79376	2.544000	0.85801	0.650000	0.86243	GCC		0.627	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		36	163	0	0	0	1	0	36	163				
NPR2	4882	broad.mit.edu	37	9	35805906	35805906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35805906C>A	ENST00000342694.2	+	14	2382	c.2127C>A	c.(2125-2127)agC>agA	p.S709R		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGTCTATAGCTTTGGGATCA	0.547																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2125-2127)agC>agA		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						86.0	88.0	88.0					9																	35805906		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35805906C>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2127C>A	9.37:g.35805906C>A	ENSP00000341083:p.Ser709Arg						p.S709R	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		14	2382	+	all_epithelial(49;0.161)		709			Protein kinase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.2127C>A	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.38|15.38	2.816902|2.816902	0.50633|0.50633	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000421267|ENST00000342694	.|T	.|0.78364	.|-1.17	5.82|5.82	2.0|2.0	0.26442|0.26442	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.52532	.|D	.|0.000072	D|D	0.92430|0.92430	0.7597|0.7597	H|H	0.99634|0.99634	4.67|4.67	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.91015|0.91015	0.4853|0.4853	5|10	.|0.72032	.|D	.|0.01	.|.	9.6933|9.6933	0.40143|0.40143	0.0:0.7216:0.0:0.2784|0.0:0.7216:0.0:0.2784	.|.	.|709;709	.|P20594-2;P20594	.|.;ANPRB_HUMAN	D|R	56|709	.|ENSP00000341083:S709R	.|ENSP00000341083:S709R	A|S	+|+	2|3	0|2	NPR2|NPR2	35795906|35795906	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	2.596000|2.596000	0.46205|0.46205	0.113000|0.113000	0.18004|0.18004	-0.251000|-0.251000	0.11542|0.11542	GCT|AGC		0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			71	354	1	0	2.48295e-43	1	3.03066e-43	71	354				
NOTCH1	4851	broad.mit.edu	37	9	139410085	139410085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139410085C>T	ENST00000277541.6	-	11	1828	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	585	EGF-like 15; 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)		GTGAAGGTGGCGACGCCGTCC	0.692			"""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.(1753-1755)Gcc>Acc		notch 1							20.0	31.0	27.0					9																	139410085		2171	4280	6451	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.chr9:139410085C>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.1753G>A	9.37:g.139410085C>T	ENSP00000277541:p.Ala585Thr	HNSCC(8;0.001)					p.A585T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	11	1828	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	585			EGF-like 15; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1753G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313318	0.81358	.	.	ENSG00000148400	ENST00000277541	D	0.91792	-2.91	5.16	3.26	0.37387	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	0.91133	0.7208	L	0.31664	0.95	0.80722	D	1	D	0.53151	0.958	P	0.56563	0.801	D	0.89859	0.4015	10	0.49607	T	0.09	.	13.248	0.60033	0.2896:0.7104:0.0:0.0	.	585	P46531	NOTC1_HUMAN	T	585	ENSP00000277541:A585T	ENSP00000277541:A585T	A	-	1	0	NOTCH1	138529906	1.000000	0.71417	0.744000	0.31058	0.973000	0.67179	5.893000	0.69798	0.519000	0.28406	-0.270000	0.10280	GCC		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		15	104	0	0	0	1	0	15	104				
ETV1	2115	broad.mit.edu	37	7	14025798	14025798	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14025798G>A	ENST00000430479.1	-	5	849				ETV1_ENST00000343495.5_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.L2F|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000405358.4_Intron|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000420159.2_Missense_Mutation_p.L2F|ETV1_ENST00000399357.3_Missense_Mutation_p.L2F|ETV1_ENST00000403685.1_Intron	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1						axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATCTTGAAGCATCCCGTCC	0.398			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000420159.2				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(4-6)Ctt>Ttt		ets variant 1							89.0	75.0	79.0					7																	14025798		1567	3576	5143	SO:0001627	intron_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:14025798G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.181+464C>T	7.37:g.14025798G>A						ETV1_ENST00000405192.2_Intron|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.L2F|ETV1_ENST00000405358.4_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000430479.1_Intron|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000399357.3_Missense_Mutation_p.L2F	p.L2F	NM_001163151.1	NP_001156623.1	P50549	ETV1_HUMAN			1	341	-			0					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.4C>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406125	0.83230	.	.	ENSG00000006468	ENST00000420159;ENST00000399357;ENST00000403527;ENST00000438956;ENST00000443608	T;T;T;T;T	0.39406	2.82;2.51;2.49;1.81;1.08	5.88	5.88	0.94601	.	.	.	.	.	T	0.42539	0.1207	N	0.08118	0	0.40231	D	0.977846	D;P;D	0.69078	0.997;0.932;0.995	D;P;D	0.75484	0.986;0.879;0.969	T	0.18335	-1.0340	9	0.02654	T	1	.	20.297	0.98561	0.0:0.0:1.0:0.0	.	2;2;2	F5GXR2;B7Z9P2;E9PHB1	.;.;.	F	2	ENSP00000411626:L2F;ENSP00000382293:L2F;ENSP00000384138:L2F;ENSP00000393078:L2F;ENSP00000394710:L2F	ENSP00000382293:L2F	L	-	1	0	ETV1	13992323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.805000	0.96524	0.551000	0.68910	CTT		0.398	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		10	38	0	0	0	1	0	10	38				
CDH8	1006	broad.mit.edu	37	16	61687978	61687978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61687978C>T	ENST00000577390.1	-	12	2888	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTATGCCGCCGTAGAGTTAC	0.383																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1933-1935)cGg>cAg		cadherin 8, type 2							61.0	61.0	61.0					16																	61687978		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687978C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1934G>A	16.37:g.61687978C>T	ENSP00000462701:p.Arg645Gln					CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2888	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	645					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1934G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	37	6.035522	0.97221	.	.	ENSG00000150394	ENST00000299345	T	0.59906	0.23	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	L	0.58510	1.815	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	T	0.74864	-0.3519	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	645	P55286	CADH8_HUMAN	Q	645	ENSP00000299345:R645Q	ENSP00000299345:R645Q	R	-	2	0	CDH8	60245479	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	CGG		0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	444	0	0	0	1	0	8	444				
USP19	10869	broad.mit.edu	37	3	49154234	49154234	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49154234C>A	ENST00000398888.2	-	6	1067	c.749G>T	c.(748-750)aGc>aTc	p.S250I	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000453664.1_Missense_Mutation_p.S341I	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	250					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGTTTCTGCTCCGGACCAT	0.587																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1021-1023)aGc>aTc		ubiquitin specific peptidase 19							56.0	61.0	59.0					3																	49154234		2033	4180	6213	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49154234C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.749G>T	3.37:g.49154234C>A	ENSP00000381863:p.Ser250Ile					USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000398888.2_Missense_Mutation_p.S250I|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I	p.S341I	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	1340	-			250			CS 2.		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1022G>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	2.613	-0.290237	0.05568	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T;T;T	0.32515	2.11;2.1;2.2;2.19;2.1;2.18;2.2;1.45	5.72	0.438	0.16560	Domain of unknown function DUF1872 (1);	1.260270	0.04631	N	0.403623	T	0.15782	0.0380	N	0.08118	0	0.20821	N	0.999842	B;B;B;B;B;B;B	0.28584	0.045;0.035;0.045;0.178;0.002;0.216;0.003	B;B;B;B;B;B;B	0.26969	0.075;0.055;0.075;0.037;0.008;0.072;0.005	T	0.21245	-1.0251	10	0.48119	T	0.1	-0.357	4.0236	0.09677	0.2608:0.4967:0.0:0.2425	.	414;351;341;250;288;336;56	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	I	56;288;351;341;288;250;351;336;336;98	ENSP00000381870:S56I;ENSP00000381872:S288I;ENSP00000395260:S351I;ENSP00000400090:S341I;ENSP00000381867:S288I;ENSP00000381863:S250I;ENSP00000401197:S351I;ENSP00000303503:S336I	ENSP00000303503:S336I	S	-	2	0	USP19	49129238	0.040000	0.19996	0.108000	0.21378	0.006000	0.05464	-0.227000	0.09126	-0.136000	0.11475	-0.145000	0.13849	AGC		0.587	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		14	250	1	0	0.000219431	1	0.000222766	14	250				
ZFP64	55734	broad.mit.edu	37	20	50782534	50782534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50782534C>T	ENST00000216923.4	-	3	666	c.317G>A	c.(316-318)gGc>gAc	p.G106D	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D|ZFP64_ENST00000346617.4_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTTGATAGCCATGTTCAAA	0.423																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(316-318)gGc>gAc		ZFP64 zinc finger protein							147.0	131.0	136.0					20																	50782534		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50782534C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.317G>A	20.37:g.50782534C>T	ENSP00000216923:p.Gly106Asp					ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D	p.G106D	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			3	666	-			106					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.317G>A	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426445	0.62733	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000371515;ENST00000371516	T;T;T;T	0.07908	3.25;3.24;3.15;3.15	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	T	0.25382	0.0617	L	0.56769	1.78	0.44181	D	0.996993	D;D;P	0.89917	1.0;1.0;0.747	D;D;B	0.91635	0.999;0.999;0.255	T	0.00822	-1.1552	10	0.20046	T	0.44	-34.4146	18.1401	0.89637	0.0:1.0:0.0:0.0	.	104;106;106	Q5JWM1;Q9NPA5;Q9NTW7	.;ZF64A_HUMAN;ZF64B_HUMAN	D	106;106;106;104;106	ENSP00000360573:G106D;ENSP00000355179:G106D;ENSP00000216923:G106D;ENSP00000360570:G104D	ENSP00000216923:G106D	G	-	2	0	ZFP64	50215941	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	3.755000	0.55197	2.726000	0.93360	0.655000	0.94253	GGC		0.423	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		38	246	0	0	0	1	0	38	246				
DHX38	9785	broad.mit.edu	37	16	72141387	72141387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72141387G>A	ENST00000268482.3	+	20	3258	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	917					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCGCCCCCGGAGGACAACAT	0.632																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2749-2751)Gag>Aag		DEAH (Asp-Glu-Ala-His) box polypeptide 38							44.0	44.0	44.0					16																	72141387		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72141387G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2749G>A	16.37:g.72141387G>A	ENSP00000268482:p.Glu917Lys					DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	p.E917K	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			20	3258	+		Ovarian(137;0.125)	917					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.2749G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043627	0.55003	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02525	4.26;4.26	5.43	5.43	0.79202	.	0.063541	0.64402	D	0.000007	T	0.03520	0.0101	L	0.28054	0.825	0.58432	D	0.999999	B;B	0.21688	0.049;0.059	B;B	0.17098	0.016;0.017	T	0.56312	-0.8000	10	0.34782	T	0.22	.	19.028	0.92941	0.0:0.0:1.0:0.0	.	229;917	B4DVG8;Q92620	.;PRP16_HUMAN	K	917;229	ENSP00000268482:E917K;ENSP00000437898:E229K	ENSP00000268482:E917K	E	+	1	0	DHX38	70698888	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	4.590000	0.61013	2.825000	0.97269	0.655000	0.94253	GAG		0.632	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		45	232	0	0	0	1	0	45	232				
DOCK3	1795	broad.mit.edu	37	3	51394453	51394453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51394453C>T	ENST00000266037.9	+	44	4587	c.4564C>T	c.(4564-4566)Cgc>Tgc	p.R1522C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1522	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCAGGAGCTACGCTCCCTGAT	0.512																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4564-4566)Cgc>Tgc		dedicator of cytokinesis 3							66.0	67.0	67.0					3																	51394453		2067	4207	6274	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51394453C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4564C>T	3.37:g.51394453C>T	ENSP00000266037:p.Arg1522Cys						p.R1522C	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	44	4587	+			1522			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4564C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429971	0.83776	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18174	2.23	5.84	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40270	-0.9572	10	0.56958	D	0.05	.	12.2217	0.54437	0.3272:0.6728:0.0:0.0	.	1522	Q8IZD9	DOCK3_HUMAN	C	1522;318	ENSP00000266037:R1522C	ENSP00000266037:R1522C	R	+	1	0	DOCK3	51369493	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.501000	0.60393	2.765000	0.95021	0.655000	0.94253	CGC		0.512	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		19	187	0	0	0	1	0	19	187				
KCNK10	54207	broad.mit.edu	37	14	88658693	88658693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88658693C>T	ENST00000340700.5	-	5	1179	c.728G>A	c.(727-729)gGc>gAc	p.G243D	KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D|KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	243					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACAATGCAGCCGGCCAAGAT	0.507																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(727-729)gGc>gAc		potassium channel, subfamily K, member 10							198.0	179.0	186.0					14																	88658693		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658693C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.728G>A	14.37:g.88658693C>T	ENSP00000343104:p.Gly243Asp					KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D|KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D	p.G243D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1179	-			243					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.728G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438248	0.96168	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.24538	1.85;1.85;1.85	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74284	-0.3715	10	0.66056	D	0.02	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	243;248;248	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	D	243;248;248	ENSP00000343104:G243D;ENSP00000310568:G248D;ENSP00000312811:G248D	ENSP00000310568:G248D	G	-	2	0	KCNK10	87728446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.790000	0.95986	0.655000	0.94253	GGC		0.507	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		82	464	0	0	0	1	0	82	464				
MYLK	4638	broad.mit.edu	37	3	123411611	123411611	+	Missense_Mutation	SNP	G	G	A	rs189757903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123411611G>A	ENST00000475616.1	-	16	3535	c.3536C>T	c.(3535-3537)gCg>gTg	p.A1179V	MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.A1179V			Q15746	MYLK_HUMAN	myosin light chain kinase	1179	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCACTCCGCCTGGCCAGC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17009	0.0		0.0	False		,,,				2504	0.0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3535-3537)gCg>gTg		myosin light chain kinase							94.0	71.0	79.0					3																	123411611		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123411611G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3536C>T	3.37:g.123411611G>A	ENSP00000418335:p.Ala1179Val					MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1179V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V	p.A1179V			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	20	3914	-		Lung NSC(201;0.0496)	1179			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3536C>T	CCDS46896.1	40	0.018315018315018316	14	0.028455284552845527	1	0.0027624309392265192	11	0.019230769230769232	14	0.018469656992084433	G	32	5.185768	0.94885	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51635	0.1686	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.991;0.992;0.997;0.997;0.996	P;P;P;P;D;D	0.65874	0.857;0.639;0.704;0.857;0.939;0.932	T	0.62886	-0.6759	9	0.07813	T	0.8	.	15.8618	0.79032	0.0:0.0:1.0:0.0	.	1179;257;1110;1179;1110;1179	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	V	1179;1179;1179;1110;1179	ENSP00000354004:A1179V;ENSP00000353452:A1179V;ENSP00000352088:A1179V;ENSP00000320622:A1110V;ENSP00000418335:A1179V	ENSP00000320622:A1110V	A	-	2	0	MYLK	124894301	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	6.439000	0.73430	2.514000	0.84764	0.563000	0.77884	GCG		0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		64	280	0	0	0	1	0	64	280				
DNAH17	8632	broad.mit.edu	37	17	76450748	76450748	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76450748G>T	ENST00000585328.1	-	64	10319	c.10195C>A	c.(10195-10197)Ctg>Atg	p.L3399M	DNAH17_ENST00000389840.5_Missense_Mutation_p.L3390M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3390	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGTCAGCAGGCTCAAGGGA	0.587																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(10168-10170)Ctg>Atg		dynein, axonemal, heavy chain 17							91.0	76.0	81.0					17																	76450748		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76450748G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10195C>A	17.37:g.76450748G>T	ENSP00000465516:p.Leu3399Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.L3399M|DNAH17_ENST00000586052.1_5'UTR	p.L3390M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		64	10292	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.10168C>A		.	.	.	.	.	.	.	.	.	.	G	4.642	0.119399	0.08881	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25579	1.79	5.21	4.23	0.50019	.	0.000000	0.48767	D	0.000175	T	0.13072	0.0317	N	0.10707	0.03	0.35803	D	0.823276	B	0.23937	0.094	B	0.31390	0.129	T	0.12708	-1.0537	10	0.05721	T	0.95	.	12.8723	0.57972	0.0:0.0:0.7035:0.2965	.	3399	E7EUM8	.	M	3399;3390	ENSP00000374490:L3390M	ENSP00000300671:L3399M	L	-	1	2	DNAH17	73962343	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	1.531000	0.36018	1.152000	0.42452	0.655000	0.94253	CTG		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		56	268	1	0	1.93748e-29	1	2.26412e-29	56	268				
FBN1	2200	broad.mit.edu	37	15	48760266	48760266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48760266C>T	ENST00000316623.5	-	38	5071	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1539	TB 6.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1539Q(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCTCGAGGTCGAATATCCAA	0.438																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.R1539Q(1)	large_intestine(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(4615-4617)cGa>cAa		fibrillin 1							107.0	105.0	106.0					15																	48760266		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48760266C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4616G>A	15.37:g.48760266C>T	ENSP00000325527:p.Arg1539Gln						p.R1539Q	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	38	5071	-		all_lung(180;0.00279)	1539			TB 6.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4616G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859345	0.17178	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94330	-3.4	5.14	5.14	0.70334	Matrix fibril-associated (2);TGF-beta binding (1);	0.377581	0.28109	N	0.016571	T	0.75027	0.3794	N	0.01168	-0.975	0.20638	N	0.999871	B	0.30104	0.268	B	0.12156	0.007	T	0.65721	-0.6099	10	0.13108	T	0.6	.	6.5554	0.22458	0.0:0.7894:0.0:0.2106	.	1539	P35555	FBN1_HUMAN	Q	1539;107;429	ENSP00000325527:R1539Q	ENSP00000325527:R1539Q	R	-	2	0	FBN1	46547558	0.379000	0.25123	0.843000	0.33291	0.973000	0.67179	0.989000	0.29629	2.684000	0.91462	0.650000	0.86243	CGA		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			82	345	0	0	0	1	0	82	345				
ZNF417	147687	broad.mit.edu	37	19	58420404	58420404	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58420404C>T	ENST00000312026.5	-	3	1406	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Silent_p.G413G|ZNF417_ENST00000536263.1_Silent_p.G215G	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TAAATGATTTCCCACATTCCT	0.443																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1240-1242)ggG>ggA		zinc finger protein 417							95.0	88.0	91.0					19																	58420404		2203	4297	6500	SO:0001819	synonymous_variant	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420404C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1242G>A	19.37:g.58420404C>T						CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Silent_p.G413G|ZNF417_ENST00000536263.1_Silent_p.G215G	p.G414G	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1406	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	414					B4DEU1	Silent	SNP	ENST00000312026.5	37	c.1242G>A	CCDS12965.1																																																																																				0.443	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		117	439	0	0	0	1	0	117	439				
MYL2	4633	broad.mit.edu	37	12	111348974	111348974	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111348974G>A	ENST00000228841.8	-	7	455	c.408C>T	c.(406-408)gaC>gaT	p.D136D	MYL2_ENST00000548438.1_Silent_p.D122D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	136	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CGAACATCTGGTCAACCTGCA	0.612																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						c.(406-408)gaC>gaT		myosin, light chain 2, regulatory, cardiac, slow							125.0	108.0	114.0					12																	111348974		2203	4300	6503	SO:0001819	synonymous_variant	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348974G>A		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.408C>T	12.37:g.111348974G>A						MYL2_ENST00000548438.1_Silent_p.D122D	p.D136D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN			7	455	-			136			EF-hand 3.		Q16123	Silent	SNP	ENST00000228841.8	37	c.408C>T	CCDS31901.1																																																																																				0.612	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		20	662	0	0	0	1	0	20	662				
OR8J1	219477	broad.mit.edu	37	11	56127922	56127922	+	Missense_Mutation	SNP	C	C	T	rs147013138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56127922C>T	ENST00000303039.3	+	1	232	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CAACATCTGGCTCTCATTAAT	0.443																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(199-201)gCt>gTt		olfactory receptor, family 8, subfamily J, member 1		C	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	171.0	153.0	159.0		200	4.6	0.5	11	dbSNP_134	159	0,8592		0,0,4296	no	missense	OR8J1	NM_001005205.2	64	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	67/317	56127922	1,12993	2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127922C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.200C>T	11.37:g.56127922C>T	ENSP00000304060:p.Ala67Val						p.A67V	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	232	+	Esophageal squamous(21;0.00448)		67					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.200C>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068390	0.36470	2.27E-4	0.0	ENSG00000172487	ENST00000303039	T	0.03152	4.03	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.14570	0.0352	M	0.92738	3.34	0.09310	N	1	P	0.51351	0.944	P	0.48770	0.589	T	0.15723	-1.0427	10	0.87932	D	0	.	12.2274	0.54468	0.0:0.8277:0.1723:0.0	.	67	Q8NGP2	OR8J1_HUMAN	V	67	ENSP00000304060:A67V	ENSP00000304060:A67V	A	+	2	0	OR8J1	55884498	0.000000	0.05858	0.485000	0.27403	0.092000	0.18411	1.193000	0.32162	2.255000	0.74692	0.643000	0.83706	GCT		0.443	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		116	488	0	0	0	1	0	116	488				
GPR141	353345	broad.mit.edu	37	7	37780137	37780137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37780137C>T	ENST00000447769.1	+	4	431	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R48W|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R48R(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAACACCCGGTCAGTGAC	0.488																																						ENST00000447769.1																			1	Substitution - coding silent(1)	p.R48R(1)	lung(1)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(142-144)Cgg>Tgg		G protein-coupled receptor 141							101.0	104.0	103.0					7																	37780137		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780137C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.142C>T	7.37:g.37780137C>T	ENSP00000390410:p.Arg48Trp					GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R48W|EPDR1_ENST00000476620.1_Intron	p.R48W			Q7Z602	GP141_HUMAN			4	431	+			48					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.142C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346981	0.41599	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.45276	0.9;0.9;0.9	5.18	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.403678	0.24384	N	0.038998	T	0.33818	0.0876	M	0.68952	2.095	0.09310	N	1	P	0.49090	0.919	B	0.37833	0.259	T	0.24728	-1.0152	10	0.30854	T	0.27	-16.3663	7.0848	0.25252	0.3405:0.5746:0.0:0.0849	.	48	Q7Z602	GP141_HUMAN	W	48	ENSP00000396300:R48W;ENSP00000390410:R48W;ENSP00000334540:R48W	ENSP00000334540:R48W	R	+	1	2	GPR141	37746662	0.010000	0.17322	0.979000	0.43373	0.993000	0.82548	0.413000	0.21148	1.249000	0.43950	0.650000	0.86243	CGG		0.488	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		14	431	0	0	0	1	0	14	431				
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	C	T	rs148779363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14340860C>T	ENST00000341243.5	+	10	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	MKL2_ENST00000318282.5_Silent_p.I581I|MKL2_ENST00000574045.1_Silent_p.I581I|MKL2_ENST00000571589.1_Silent_p.I581I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	570	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I581I(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGCAAATCGAAGAGCTGA	0.507																																						ENST00000571589.1																			3	Substitution - coding silent(3)	p.I581I(3)	large_intestine(2)|lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1741-1743)atC>atT		MKL/myocardin-like 2		C		0,4394		0,0,2197	37.0	39.0	38.0		1743	-5.9	0.8	16	dbSNP_134	38	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MKL2	NM_014048.3		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		581/1050	14340860	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340860C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1710C>T	16.37:g.14340860C>T						MKL2_ENST00000318282.5_Silent_p.I581I|MKL2_ENST00000341243.5_Silent_p.I570I|MKL2_ENST00000574045.1_Silent_p.I581I	p.I581I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	1915	+			570			Required for interaction with itself and with MKL1.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.1743C>T																																																																																					0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		39	220	0	0	0	1	0	39	220				
ZNF37BP	100129482	broad.mit.edu	37	10	43019169	43019169	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43019169C>T	ENST00000452075.3	-	0	785					NR_026777.1				zinc finger protein 37B, pseudogene																		TAGTCACATCCCTAAATGACA	0.463																																						ENST00000473592.1																			0																																																			0							g.chr10:43019169C>T	AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43019169C>T														0	2390	-									RNA	SNP	ENST00000452075.3	37																																																																																						0.463	ZNF37BP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047675.2	NR_026777		45	214	0	0	0	1	0	45	214				
CEMIP	57214	broad.mit.edu	37	15	81241240	81241240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81241240C>A	ENST00000394685.3	+	30	4480	c.4061C>A	c.(4060-4062)cCt>cAt	p.P1354H	MESDC2_ENST00000560244.1_Splice_Site|KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H			Q8WUJ3	CEMIP_HUMAN		1354					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGCCCATCCCTGTGGTGAAG	0.557																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4060-4062)cCt>cAt		KIAA1199							177.0	150.0	159.0					15																	81241240		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81241240C>A																												ENST00000394685.3:c.4061C>A	15.37:g.81241240C>A	ENSP00000378177:p.Pro1354His					KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H|MESDC2_ENST00000560244.1_Splice_Site|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H	p.P1354H			Q8WUJ3	K1199_HUMAN			30	4480	+			1354					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.4061C>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528904	0.64860	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.70399	-0.48;-0.48;-0.48	5.26	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	D	0.83673	0.0167	10	0.87932	D	0	-21.3879	13.7161	0.62697	0.0:0.9245:0.0:0.0755	.	1354	Q8WUJ3	K1199_HUMAN	H	1354	ENSP00000220244:P1354H;ENSP00000378177:P1354H;ENSP00000348583:P1354H	ENSP00000220244:P1354H	P	+	2	0	KIAA1199	79028295	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	6.475000	0.73582	1.361000	0.45981	0.650000	0.86243	CCT		0.557	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			129	657	1	0	1.46079e-55	1	1.82622e-55	129	657				
CRADD	8738	broad.mit.edu	37	12	94072626	94072626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072626G>A	ENST00000542893.2	+	2	394	c.76G>A	c.(76-78)Gtt>Att	p.V26I	CRADD_ENST00000552983.1_Missense_Mutation_p.V26I|CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000541813.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	26	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGAGGGACTGGTTCTTCAGTA	0.498																																						ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(76-78)Gtt>Att		CASP2 and RIPK1 domain containing adaptor with death domain							79.0	74.0	76.0					12																	94072626		2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94072626G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.76G>A	12.37:g.94072626G>A	ENSP00000439068:p.Val26Ile					CRADD_ENST00000541813.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I|CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000552983.1_Missense_Mutation_p.V26I	p.V26I			P78560	CRADD_HUMAN			2	394	+			26			CARD.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.76G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355886	0.61293	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.054062	0.64402	D	0.000001	T	0.32102	0.0818	N	0.11724	0.165	0.45005	D	0.998029	D;B	0.67145	0.996;0.051	D;B	0.76071	0.987;0.233	T	0.15009	-1.0452	10	0.13853	T	0.58	-25.1462	18.7029	0.91627	0.0:0.0:1.0:0.0	.	26;26	F5H7C2;P78560	.;CRADD_HUMAN	I	26	ENSP00000449570:V26I;ENSP00000327647:V26I;ENSP00000449664:V26I;ENSP00000448685:V26I;ENSP00000439068:V26I;ENSP00000442624:V26I	ENSP00000327647:V26I	V	+	1	0	CRADD	92596757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.801000	0.55545	2.403000	0.81681	0.655000	0.94253	GTT		0.498	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		59	237	0	0	0	1	0	59	237				
RPL22L1	200916	broad.mit.edu	37	3	170585924	170585924	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170585924C>A	ENST00000295830.8	-	3	418		c.e3-1		RPL22L1_ENST00000463836.1_Splice_Site	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1						translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAAATTGCTCCTATTTTAAAA	0.358																																						ENST00000295830.8																			0				kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.e3-1		ribosomal protein L22-like 1							45.0	40.0	42.0					3																	170585924		1802	4060	5862	SO:0001630	splice_region_variant	200916				translation	ribosome	structural constituent of ribosome	g.chr3:170585924C>A	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.103-1G>T	3.37:g.170585924C>A						RPL22L1_ENST00000463836.1_Splice_Site		NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		3	418	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)							Q32Q77	Splice_Site	SNP	ENST00000295830.8	37		CCDS46955.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494590	0.85069	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPL22L1	172068618	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	.		0.358	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317	Intron	5	45	1	0	0.00198382	1	0.00200138	5	45				
HEATR4	399671	broad.mit.edu	37	14	73967357	73967357	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73967357G>A	ENST00000553558.1	-	12	2504	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V|HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	728										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GAGAAGCTTGGCGGTCATAAG	0.552																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2182-2184)gCc>gTc		HEAT repeat containing 4							126.0	103.0	111.0					14																	73967357		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73967357G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2183C>T	14.37:g.73967357G>A	ENSP00000450444:p.Ala728Val					HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V|HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V	p.A728V	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	12	2504	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.2183C>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567887	0.45798	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.18657	2.2	5.35	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.382752	0.22466	N	0.059683	T	0.12603	0.0306	N	0.08118	0	0.30039	N	0.812774	B	0.21688	0.059	B	0.26094	0.066	T	0.09574	-1.0668	10	0.36615	T	0.2	-1.7862	13.3102	0.60376	0.078:0.0:0.922:0.0	.	728	Q86WZ0	HEAT4_HUMAN	V	728;681	ENSP00000450444:A728V	ENSP00000335447:A681V	A	-	2	0	HEATR4	73037110	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	2.773000	0.47686	1.384000	0.46424	0.555000	0.69702	GCC		0.552	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		73	301	0	0	0	1	0	73	301				
VWCE	220001	broad.mit.edu	37	11	61026582	61026582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61026582C>A	ENST00000335613.5	-	20	2819	c.2433G>T	c.(2431-2433)caG>caT	p.Q811H	VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	811						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGGTAAAGTCTGTGTTTTCA	0.582																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2431-2433)caG>caT		von Willebrand factor C and EGF domains							55.0	57.0	56.0					11																	61026582		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026582C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2433G>T	11.37:g.61026582C>A	ENSP00000334186:p.Gln811His					VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	p.Q811H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			20	2819	-			811					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2433G>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588329	0.46110	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70631	-0.5;3.36	4.73	1.69	0.24217	.	0.405020	0.18355	N	0.143759	T	0.61602	0.2360	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.56147	-0.8027	10	0.87932	D	0	.	6.9739	0.24664	0.0:0.57:0.3356:0.0944	.	811	Q96DN2	VWCE_HUMAN	H	811;276	ENSP00000334186:Q811H;ENSP00000442570:Q276H	ENSP00000334186:Q811H	Q	-	3	2	VWCE	60783158	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.696000	0.05104	0.132000	0.18615	-0.140000	0.14226	CAG		0.582	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		19	187	1	0	3.99206e-14	1	4.32713e-14	19	187				
NOTCH2	4853	broad.mit.edu	37	1	120483361	120483361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120483361G>A	ENST00000256646.2	-	19	3219	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1000	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACACATGTGCCACCATTGA	0.443			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(2998-3000)ggC>ggT		notch 2							122.0	95.0	104.0					1																	120483361		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120483361G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3000C>T	1.37:g.120483361G>A							p.G1000G	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3219	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1000			EGF-like 26; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.3000C>T	CCDS908.1																																																																																				0.443	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		46	156	0	0	0	1	0	46	156				
TRAV25	28658	broad.mit.edu	37	14	22580906	22580906	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22580906T>C	ENST00000390454.2	+	0	325									T cell receptor alpha variable 25																		CATTTCAGTTTGGAGAAGCAA	0.473																																						ENST00000390454.2																			0																				62.0	62.0	62.0					14																	22580906		1952	4177	6129			0							g.chr14:22580906T>C	AE000660		14q11.2	2012-02-07			ENSG00000211806	ENSG00000211806		"""T cell receptors / TRA locus"""	12122	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV25S1, TCRAV32S1			OTTHUMG00000170653		14.37:g.22580906T>C														0	325	+									RNA	SNP	ENST00000390454.2	37																																																																																						0.473	TRAV25-001	KNOWN	upstream_ATG|mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409901.1	NG_001332		10	106	0	0	0	1	0	10	106				
COL6A3	1293	broad.mit.edu	37	2	238245116	238245116	+	Missense_Mutation	SNP	G	G	A	rs367635298		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238245116G>A	ENST00000295550.4	-	40	9079	c.8627C>T	c.(8626-8628)cCg>cTg	p.P2876L	COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2876	Nonhelical region.|Thr-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTAGTCACCGGCTTCGTTGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18901	0.0		0.0	False		,,,				2504	0.001					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8626-8628)cCg>cTg		collagen, type VI, alpha 3		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	170.0	158.0	162.0		8627,6806,8009	4.1	0.1	2		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	2876/3178,2269/2571,2670/2972	238245116	1,13005	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238245116G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8627C>T	2.37:g.238245116G>A	ENSP00000295550:p.Pro2876Leu					COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L	p.P2876L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9079	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2876			Nonhelical region.|Thr-rich.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8627C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	4.155	0.027127	0.08054	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.90563	-2.69;-2.65;-2.65;-2.64;-2.65;-2.62	4.05	4.05	0.47172	.	0.145674	0.31797	N	0.007057	D	0.84469	0.5479	L	0.48877	1.53	0.19575	N	0.999962	P;P;P	0.39404	0.672;0.655;0.524	B;B;B	0.28784	0.043;0.094;0.043	T	0.80460	-0.1373	10	0.72032	D	0.01	.	12.0817	0.53675	0.0:0.0:1.0:0.0	.	2269;2670;2876	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	2876;2675;2670;2269;2670;2676	ENSP00000295550:P2876L;ENSP00000315609:P2675L;ENSP00000315873:P2670L;ENSP00000418285:P2269L;ENSP00000386844:P2670L;ENSP00000295546:P2676L	ENSP00000295550:P2876L	P	-	2	0	COL6A3	237909855	0.051000	0.20477	0.056000	0.19401	0.093000	0.18481	2.136000	0.42121	1.952000	0.56665	0.563000	0.77884	CCG		0.448	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		173	870	0	0	0	1	0	173	870				
C3	718	broad.mit.edu	37	19	6696635	6696635	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6696635A>C	ENST00000245907.6	-	22	2924	c.2832T>G	c.(2830-2832)gtT>gtG	p.V944V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	944					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCAGGGTGCGAACAGCCACAG	0.567																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2830-2832)gtT>gtG		complement component 3							167.0	161.0	163.0					19																	6696635		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6696635A>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2832T>G	19.37:g.6696635A>C							p.V944V	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	22	2924	-			944					A7E236	Silent	SNP	ENST00000245907.6	37	c.2832T>G	CCDS32883.1																																																																																				0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		232	1146	0	0	0	1	0	232	1146				
ITGA1	3672	broad.mit.edu	37	5	52229781	52229781	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52229781T>C	ENST00000282588.6	+	23	3377	c.2919T>C	c.(2917-2919)atT>atC	p.I973I	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	973					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTGAAGTTATTAATTCTACTG	0.269																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2917-2919)atT>atC		integrin, alpha 1							41.0	46.0	44.0					5																	52229781		2199	4279	6478	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52229781T>C	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2919T>C	5.37:g.52229781T>C						CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	p.I973I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			23	3377	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	973					B2RNU0	Silent	SNP	ENST00000282588.6	37	c.2919T>C	CCDS3955.1																																																																																				0.269	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		30	240	0	0	0	1	0	30	240				
RERE	473	broad.mit.edu	37	1	8716278	8716278	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8716278C>A	ENST00000337907.3	-	3	713	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	RERE_ENST00000400907.2_Missense_Mutation_p.D27Y|RERE_ENST00000400908.2_Missense_Mutation_p.D27Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	27					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGCTTTGTCTCTTTTCtct	0.507																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(79-81)Gac>Tac		arginine-glutamic acid dipeptide (RE) repeats							158.0	161.0	160.0					1																	8716278		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716278C>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.79G>T	1.37:g.8716278C>A	ENSP00000338629:p.Asp27Tyr					RERE_ENST00000400908.2_Missense_Mutation_p.D27Y|RERE_ENST00000400907.2_Missense_Mutation_p.D27Y	p.D27Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	713	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	27					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.79G>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536675	0.65085	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.51325	0.71;0.71	5.45	5.45	0.79879	.	.	.	.	.	T	0.49253	0.1546	N	0.19112	0.55	0.58432	D	0.999997	D	0.55385	0.971	P	0.54401	0.751	T	0.54794	-0.8240	9	0.87932	D	0	-16.1566	17.8703	0.88808	0.0:1.0:0.0:0.0	.	27	Q9P2R6	RERE_HUMAN	Y	27	ENSP00000338629:D27Y;ENSP00000383700:D27Y	ENSP00000338629:D27Y	D	-	1	0	RERE	8638865	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.240000	0.78192	2.553000	0.86117	0.557000	0.71058	GAC		0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			21	1210	1	0	1.02788e-11	1	1.09837e-11	21	1210				
PRKACG	5568	broad.mit.edu	37	9	71628546	71628546	+	Missense_Mutation	SNP	C	C	T	rs371210848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628546C>T	ENST00000377276.2	-	1	493	c.463G>A	c.(463-465)Gtc>Atc	p.V155I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGTACTGGACGGCCAGGACG	0.622																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(463-465)Gtc>Atc		protein kinase, cAMP-dependent, catalytic, gamma							56.0	49.0	51.0					9																	71628546		2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628546C>T	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.463G>A	9.37:g.71628546C>T	ENSP00000366488:p.Val155Ile						p.V155I	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	493	-			155			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.463G>A	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878012	0.51801	.	.	ENSG00000165059	ENST00000377276	T	0.08008	3.14	1.49	-2.77	0.05877	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32028	U	0.006695	T	0.03263	0.0095	N	0.16602	0.42	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.33111	-0.9881	10	0.31617	T	0.26	.	0.4807	0.00547	0.4379:0.2053:0.1547:0.2021	.	155	P22612	KAPCG_HUMAN	I	155	ENSP00000366488:V155I	ENSP00000366488:V155I	V	-	1	0	PRKACG	70818366	0.241000	0.23857	0.000000	0.03702	0.002000	0.02628	1.058000	0.30504	-1.715000	0.01389	-0.520000	0.04383	GTC		0.622	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			32	117	0	0	0	1	0	32	117				
MAP1A	4130	broad.mit.edu	37	15	43816613	43816613	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816613A>G	ENST00000300231.5	+	4	3392	c.2942A>G	c.(2941-2943)gAg>gGg	p.E981G	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1219G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	981					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGAAGCAGAGGAGCGGTGC	0.552																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3655-3657)gAg>gGg		microtubule-associated protein 1A	Estramustine(DB01196)						112.0	115.0	114.0					15																	43816613		2065	4197	6262	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816613A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2942A>G	15.37:g.43816613A>G	ENSP00000300231:p.Glu981Gly					MAP1A_ENST00000300231.5_Missense_Mutation_p.E981G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G	p.E1219G			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	3687	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	981					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3656A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087952	0.36855	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02032	4.5;4.49;4.49	5.1	5.1	0.69264	.	.	.	.	.	T	0.13200	0.0320	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.00249	-1.1879	9	0.66056	D	0.02	-20.7677	15.0596	0.71942	1.0:0.0:0.0:0.0	.	981	P78559	MAP1A_HUMAN	G	1219;981;981	ENSP00000371462:E1219G;ENSP00000382380:E981G;ENSP00000300231:E981G	ENSP00000300231:E981G	E	+	2	0	MAP1A	41603905	1.000000	0.71417	0.996000	0.52242	0.518000	0.34316	8.729000	0.91490	2.137000	0.66172	0.533000	0.62120	GAG		0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		118	581	0	0	0	1	0	118	581				
HAO2	51179	broad.mit.edu	37	1	119929252	119929252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119929252C>T	ENST00000325945.3	+	5	642	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HAO2_ENST00000361035.4_Missense_Mutation_p.A203V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	190	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAGGGAAATGCAATACCTTAT	0.428																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(607-609)gCa>gTa		hydroxyacid oxidase 2 (long chain)							104.0	102.0	102.0					1																	119929252		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119929252C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.569C>T	1.37:g.119929252C>T	ENSP00000316339:p.Ala190Val					HAO2_ENST00000325945.3_Missense_Mutation_p.A190V	p.A203V	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	6	891	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	190			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.608C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031455	0.35797	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.29397	1.57;1.57;1.57	5.13	3.15	0.36227	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.938027	0.08845	N	0.885294	T	0.06962	0.0177	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40175	-0.9577	9	.	.	.	2.527	6.806	0.23779	0.0:0.6969:0.1417:0.1614	.	190	Q9NYQ3	HAOX2_HUMAN	V	165;203;190	ENSP00000393955:A165V;ENSP00000354314:A203V;ENSP00000316339:A190V	.	A	+	2	0	HAO2	119730775	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.505000	0.22642	0.664000	0.31047	0.655000	0.94253	GCA		0.428	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		76	279	0	0	0	1	0	76	279				
HIST1H3G	8355	broad.mit.edu	37	6	26271485	26271485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26271485C>T	ENST00000305910.3	-	1	127	c.128G>A	c.(127-129)cGt>cAt	p.R43H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	43					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(127-129)cGt>cAt		histone cluster 1, H3g							50.0	54.0	52.0					6																	26271485		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271485C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.128G>A	6.37:g.26271485C>T	ENSP00000439660:p.Arg43His						p.R43H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	127	-			43					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.128G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.442606	0.25987	.	.	ENSG00000256018	ENST00000305910	T	0.50813	0.73	4.56	3.7	0.42460	.	.	.	.	.	T	0.37376	0.1001	.	.	.	0.27360	N	0.955999	.	.	.	.	.	.	T	0.26430	-1.0103	6	0.66056	D	0.02	.	11.9332	0.52857	0.0:0.915:0.0:0.085	.	.	.	.	H	43	ENSP00000439660:R43H	ENSP00000439660:R43H	R	-	2	0	HIST1H3G	26379464	1.000000	0.71417	0.982000	0.44146	0.086000	0.17979	7.557000	0.82243	1.064000	0.40671	0.563000	0.77884	CGT		0.637	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		19	486	0	0	0	1	0	19	486				
MAP3K13	9175	broad.mit.edu	37	3	185183578	185183578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185183578C>T	ENST00000265026.3	+	9	1766	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R478W(2)|p.R478R(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGCTTGAGCGGGCGAATAA	0.478																																						ENST00000265026.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.R478W(2)|p.R478R(1)	large_intestine(3)	NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1432-1434)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 13							139.0	143.0	142.0					3																	185183578		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185183578C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1432C>T	3.37:g.185183578C>T	ENSP00000265026:p.Arg478Trp					MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W	p.R478W	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		9	1766	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		478						Missense_Mutation	SNP	ENST00000265026.3	37	c.1432C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873817	0.72180	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.80566	-1.39;-1.35;-1.25;-1.25;-1.35;-1.05	4.97	2.95	0.34219	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.83243	0.5212	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.996;0.997	D	0.84993	0.0895	10	0.72032	D	0.01	.	13.4974	0.61434	0.3171:0.6829:0.0:0.0	.	334;271;478	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	W	271;478;334;334;478;223	ENSP00000411483:R271W;ENSP00000399910:R478W;ENSP00000409325:R334W;ENSP00000439257:R334W;ENSP00000265026:R478W;ENSP00000415712:R223W	ENSP00000265026:R478W	R	+	1	2	MAP3K13	186666272	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.491000	0.22419	2.309000	0.77851	0.655000	0.94253	CGG		0.478	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		143	562	0	0	0	1	0	143	562				
ITGA7	3679	broad.mit.edu	37	12	56092537	56092537	+	Missense_Mutation	SNP	C	C	T	rs200793865	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092537C>T	ENST00000555728.1	-	7	1115	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000257880.7_Missense_Mutation_p.G363S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G319S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S			Q13683	ITA7_HUMAN	integrin, alpha 7	363					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAGCCAAAGCCGGAGGTCAGG	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		16863	0.003		0.0	False		,,,				2504	0.0					ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1087-1089)Ggc>Agc		integrin, alpha 7							67.0	55.0	59.0					12																	56092537		2203	4299	6502	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092537C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1087G>A	12.37:g.56092537C>T	ENSP00000452387:p.Gly363Ser					ITGA7_ENST00000555728.1_Missense_Mutation_p.G363S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G319S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S	p.G363S			Q13683	ITA7_HUMAN			7	1306	-			363					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1087G>A		.	.	.	.	.	.	.	.	.	.	C	6.925	0.540358	0.13250	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.46	4.46	0.54185	.	0.338675	0.28688	N	0.014478	T	0.31167	0.0788	N	0.01235	-0.94	0.42502	D	0.992937	B;B;B;P	0.36990	0.07;0.019;0.033;0.577	B;B;B;B	0.24006	0.011;0.008;0.011;0.05	T	0.51204	-0.8735	10	0.07030	T	0.85	.	10.1055	0.42530	0.2:0.8:0.0:0.0	.	226;363;323;382	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	323;319;319;226;363;323;319;363;363	ENSP00000452120:G323S;ENSP00000257879:G319S;ENSP00000343009:G319S;ENSP00000393844:G226S;ENSP00000257880:G363S;ENSP00000377777:G323S;ENSP00000377776:G319S;ENSP00000452387:G363S	ENSP00000257879:G319S	G	-	1	0	ITGA7	54378804	0.710000	0.27896	0.995000	0.50966	0.785000	0.44390	1.497000	0.35649	2.489000	0.83994	0.491000	0.48974	GGC		0.647	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		51	279	0	0	0	1	0	51	279				
PHLDB1	23187	broad.mit.edu	37	11	118502965	118502965	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118502965G>T	ENST00000361417.2	+	10	2742	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	777										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCAGCTGCAGGAGAAGCTGG	0.627																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2329-2331)caG>caT		pleckstrin homology-like domain, family B, member 1							90.0	77.0	81.0					11																	118502965		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118502965G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2331G>T	11.37:g.118502965G>T	ENSP00000354498:p.Gln777His					PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H|PHLDB1_ENST00000534672.1_3'UTR	p.Q777H	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	10	2742	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	777					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2331G>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557486	0.65425	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.32515	1.45;1.45	5.15	4.24	0.50183	.	0.113485	0.64402	D	0.000008	T	0.45538	0.1347	L	0.42686	1.345	0.80722	D	1	D;D;D;B	0.76494	0.984;0.999;0.995;0.267	P;D;D;B	0.70935	0.73;0.971;0.919;0.086	T	0.32214	-0.9915	10	0.42905	T	0.14	-32.3819	13.8592	0.63550	0.0736:0.0:0.9264:0.0	.	521;777;777;777	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	H	777;536;99;777	ENSP00000354498:Q777H;ENSP00000348359:Q777H	ENSP00000348359:Q777H	Q	+	3	2	PHLDB1	118008175	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.264000	0.65513	1.182000	0.42928	-0.254000	0.11334	CAG		0.627	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		51	249	1	0	2.29192e-23	1	2.60423e-23	51	249				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262171	39262171	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39262171T>C	ENST00000391415.1	+	1	588	c.531T>C	c.(529-531)cgT>cgC	p.R177R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	177	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgcGTGCGTCCAGTCTGTG	0.662																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(529-531)cgT>cgC		keratin associated protein 4-9							32.0	36.0	35.0					17																	39262171		692	1590	2282	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39262171T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.531T>C	17.37:g.39262171T>C							p.R177R	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	588	+			177			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.531T>C	CCDS54124.1																																																																																				0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		11	61	0	0	0	1	0	11	61				
OTUD7A	161725	broad.mit.edu	37	15	31818563	31818563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31818563G>A	ENST00000307050.4	-	6	953	c.861C>T	c.(859-861)ggC>ggT	p.G287G	OTUD7A_ENST00000382902.1_Silent_p.G294G	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	287	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCCCGCCCGTGCCGCCATTCT	0.677																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(880-882)ggC>ggT		OTU domain containing 7A							36.0	37.0	37.0					15																	31818563		2202	4300	6502	SO:0001819	synonymous_variant	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31818563G>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.861C>T	15.37:g.31818563G>A						OTUD7A_ENST00000307050.4_Silent_p.G287G	p.G294G			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	6	974	-		all_lung(180;1.6e-09)	287			Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).		Q8IWK5	Silent	SNP	ENST00000307050.4	37	c.882C>T	CCDS10026.1																																																																																				0.677	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		13	61	0	0	0	1	0	13	61				
ADAMTS3	9508	broad.mit.edu	37	4	73175167	73175167	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73175167T>C	ENST00000286657.4	-	15	2162	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	709	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTGGGAATTATCTCCTCC	0.433																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2125-2127)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							148.0	135.0	140.0					4																	73175167		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73175167T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2126A>G	4.37:g.73175167T>C	ENSP00000286657:p.Asn709Ser						p.N709S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2162	-			709			Cys-rich.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2126A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271527	0.59649	.	.	ENSG00000156140	ENST00000286657	T	0.66460	-0.21	5.53	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.71920	2.185	0.49483	D	0.999796	P	0.48911	0.917	B	0.41412	0.356	T	0.67333	-0.5697	10	0.52906	T	0.07	.	11.4011	0.49871	0.0:0.0709:0.0:0.9291	.	709	O15072	ATS3_HUMAN	S	709	ENSP00000286657:N709S	ENSP00000286657:N709S	N	-	2	0	ADAMTS3	73394031	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.938000	0.70170	1.040000	0.40099	0.455000	0.32223	AAT		0.433	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			72	333	0	0	0	1	0	72	333				
NDEL1	81565	broad.mit.edu	37	17	8354153	8354153	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8354153G>A	ENST00000334527.7	+	6	779	c.582G>A	c.(580-582)tcG>tcA	p.S194S	NDEL1_ENST00000380025.4_Silent_p.S194S|NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000402554.3_Silent_p.S194S|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	194	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						CTAGAAAGTCGGCTCCTAGCT	0.468																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(580-582)tcG>tcA		nudE neurodevelopment protein 1-like 1							76.0	65.0	69.0					17																	8354153		2203	4300	6503	SO:0001819	synonymous_variant	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8354153G>A	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.582G>A	17.37:g.8354153G>A						NDEL1_ENST00000380025.4_Silent_p.S194S|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000402554.3_Silent_p.S194S	p.S194S	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			6	779	+			194			Interaction with CENPF.|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	37	c.582G>A	CCDS11143.1																																																																																				0.468	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		50	172	0	0	0	1	0	50	172				
CLCA4	22802	broad.mit.edu	37	1	87033243	87033243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87033243G>T	ENST00000370563.3	+	7	1133	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	364	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATAAAAAGCAGTGATGAA	0.398																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1090-1092)aGc>aTc		chloride channel accessory 4							96.0	97.0	97.0					1																	87033243		1909	4135	6044	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87033243G>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1091G>T	1.37:g.87033243G>T	ENSP00000359594:p.Ser364Ile					CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	p.S364I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	7	1133	+		Lung NSC(277;0.238)	364			VWFA.		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1091G>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741101	0.49151	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.70045	-0.45;-0.45	5.98	2.75	0.32379	von Willebrand factor, type A (3);	0.414937	0.29508	N	0.011949	T	0.70254	0.3203	M	0.87758	2.905	0.09310	N	1	D	0.53885	0.963	D	0.65573	0.936	T	0.63332	-0.6661	10	0.87932	D	0	-7.571	4.875	0.13651	0.161:0.1236:0.6015:0.1139	.	364	Q14CN2	CLCA4_HUMAN	I	364;77	ENSP00000359594:S364I;ENSP00000263723:S77I	ENSP00000263723:S77I	S	+	2	0	CLCA4	86805831	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	1.142000	0.31540	0.785000	0.33685	-0.345000	0.07892	AGC		0.398	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		25	249	1	0	1.39806e-14	1	1.52044e-14	25	249				
OCLM	10896	broad.mit.edu	37	1	186370258	186370258	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186370258T>C	ENST00000574641.1	+	1	555	c.81T>C	c.(79-81)taT>taC	p.Y27Y	C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	27					visual perception (GO:0007601)												AAATCCTTTATAAAAGTGGTA	0.323																																						ENST00000574641.1																			0											c.(79-81)taT>taC		oculomedin							114.0	108.0	110.0					1																	186370258		1796	4068	5864	SO:0001819	synonymous_variant	10896				visual perception			g.chr1:186370258T>C	AF142063	CCDS58051.1	1q31.1	2013-09-24			ENSG00000262180	ENSG00000262180			8103	protein-coding gene	gene with protein product		604301				10362512	Standard	NM_022375		Approved		uc001gry.3	Q9Y5M6	OTTHUMG00000177601	ENST00000574641.1:c.81T>C	1.37:g.186370258T>C						C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Intron	p.Y27Y	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN			1	555	+			27					Q4G0F9	Silent	SNP	ENST00000574641.1	37	c.81T>C	CCDS58051.1																																																																																				0.323	OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438012.1	NM_022375		109	283	0	0	0	1	0	109	283				
IRF6	3664	broad.mit.edu	37	1	209969826	209969826	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209969826C>G	ENST00000367021.3	-	4	418	c.246G>C	c.(244-246)caG>caC	p.Q82H	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	82			Q -> K (in PPS). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CACAGCGCAGCTGGGCCTTCC	0.512										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(244-246)caG>caC		interferon regulatory factor 6							108.0	88.0	95.0					1																	209969826		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209969826C>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.246G>C	1.37:g.209969826C>G	ENSP00000355988:p.Gln82His	HNSCC(57;0.16)				IRF6_ENST00000542854.1_5'UTR	p.Q82H	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	4	418	-			82		Q -> K (in PPS).			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.246G>C	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743250	0.69418	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97752	-4.52;-4.52	5.63	3.53	0.40419	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.052631	0.85682	D	0.000000	D	0.97161	0.9072	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.95928	0.8936	9	.	.	.	.	11.3709	0.49699	0.0:0.808:0.0:0.192	.	82	O14896	IRF6_HUMAN	H	82	ENSP00000355988:Q82H;ENSP00000403855:Q82H	.	Q	-	3	2	IRF6	208036449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.908000	0.48750	1.375000	0.46248	0.655000	0.94253	CAG		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		66	193	0	0	0	1	0	66	193				
ASB9	140462	broad.mit.edu	37	X	15276992	15276992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15276992C>A	ENST00000380488.4	-	2	443	c.170G>T	c.(169-171)aGc>aTc	p.S57I	ASB9_ENST00000546332.1_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	57					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCTACCTGGCTGATGAGGTT	0.373																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(169-171)aGc>aTc		ankyrin repeat and SOCS box containing 9							113.0	97.0	102.0					X																	15276992		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15276992C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.170G>T	X.37:g.15276992C>A	ENSP00000369855:p.Ser57Ile					ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I|ASB9_ENST00000380488.4_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR	p.S57I	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			3	653	-	Hepatocellular(33;0.183)		57					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.170G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111713	0.56398	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	-0.17;-0.16;-0.16;-0.16	5.84	2.18	0.27775	Ankyrin repeat-containing domain (3);	0.519060	0.24381	N	0.039004	T	0.70527	0.3234	M	0.67625	2.065	0.31781	N	0.630865	D;P;D;P	0.62365	0.991;0.847;0.979;0.954	P;P;P;P	0.60609	0.877;0.674;0.858;0.644	T	0.73043	-0.4107	10	0.87932	D	0	-4.8505	8.4539	0.32888	0.0:0.4907:0.0:0.5093	.	57;57;57;57	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	I	57	ENSP00000369850:S57I;ENSP00000369852:S57I;ENSP00000369855:S57I;ENSP00000438943:S57I	ENSP00000369850:S57I	S	-	2	0	ASB9	15186913	0.051000	0.20477	0.970000	0.41538	0.636000	0.38137	-0.574000	0.05868	0.003000	0.14656	-0.192000	0.12808	AGC		0.373	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			75	237	1	0	3.20846e-33	1	3.7991e-33	75	237				
RAVER2	55225	broad.mit.edu	37	1	65268680	65268680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65268680G>T	ENST00000294428.3	+	6	1205	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	RAVER2_ENST00000371072.4_Missense_Mutation_p.S376I|RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACACCTCACAGCTTGCCACAT	0.308																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1126-1128)aGc>aTc		ribonucleoprotein, PTB-binding 2							135.0	124.0	127.0					1																	65268680		1844	4101	5945	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65268680G>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1127G>T	1.37:g.65268680G>T	ENSP00000294428:p.Ser376Ile					RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I|RAVER2_ENST00000371072.4_Missense_Mutation_p.S376I	p.S376I			Q9HCJ3	RAVR2_HUMAN			6	1205	+			376					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1127G>T		.	.	.	.	.	.	.	.	.	.	G	11.56	1.674745	0.29783	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.33865	1.39;1.4	5.67	2.69	0.31865	.	0.420646	0.31697	N	0.007205	T	0.21921	0.0528	L	0.50333	1.59	0.25190	N	0.990134	P;P	0.50443	0.893;0.935	P;P	0.51945	0.487;0.685	T	0.06643	-1.0815	10	0.44086	T	0.13	-20.3287	6.1473	0.20293	0.1664:0.286:0.5476:0.0	.	376;376	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	I	376;376;82	ENSP00000360112:S376I;ENSP00000294428:S376I	ENSP00000294428:S376I	S	+	2	0	RAVER2	65041268	1.000000	0.71417	0.878000	0.34440	0.009000	0.06853	2.378000	0.44309	0.286000	0.22352	-0.179000	0.13096	AGC		0.308	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		36	420	1	0	3.33393e-15	1	3.63836e-15	36	420				
CASR	846	broad.mit.edu	37	3	122002933	122002933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002933C>T	ENST00000490131.1	+	7	2504	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.P711L|CASR_ENST00000498619.1_Missense_Mutation_p.P721L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	711					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAAGATCCCCACCAGCTTC	0.572																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2161-2163)cCc>cTc		calcium-sensing receptor	Cinacalcet(DB01012)						63.0	57.0	59.0					3																	122002933		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002933C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2132C>T	3.37:g.122002933C>T	ENSP00000418685:p.Pro711Leu					CASR_ENST00000296154.5_Missense_Mutation_p.P711L|CASR_ENST00000490131.1_Missense_Mutation_p.P711L	p.P721L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2600	+			711					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2162C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373344	0.82573	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87729	-2.29;-2.29;-2.29	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95423	0.8509	10	0.87932	D	0	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	721;711	E7ENE0;P41180	.;CASR_HUMAN	L	711;721;711	ENSP00000418685:P711L;ENSP00000420194:P721L;ENSP00000296154:P711L	ENSP00000296154:P711L	P	+	2	0	CASR	123485623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCC		0.572	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		66	289	0	0	0	1	0	66	289				
STXBP5	134957	broad.mit.edu	37	6	147560343	147560343	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147560343A>G	ENST00000321680.6	+	4	368	c.368A>G	c.(367-369)cAc>cGc	p.H123R	STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R|STXBP5_ENST00000367481.3_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	123					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GACACCTTACACTTATGGAAT	0.348																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(367-369)cAc>cGc		syntaxin binding protein 5 (tomosyn)							101.0	98.0	99.0					6																	147560343		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147560343A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.368A>G	6.37:g.147560343A>G	ENSP00000321826:p.His123Arg					STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R|STXBP5_ENST00000321680.6_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R	p.H123R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	4	476	+		Ovarian(120;0.0164)	123					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.368A>G	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.850609	0.91277	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.62364	1.74;5.19;1.74;0.03	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.99;0.994	T	0.80845	-0.1200	10	0.56958	D	0.05	.	15.6	0.76616	1.0:0.0:0.0:0.0	.	123;123	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	R	123	ENSP00000356451:H123R;ENSP00000441479:H123R;ENSP00000321826:H123R;ENSP00000356450:H123R	ENSP00000321826:H123R	H	+	2	0	STXBP5	147602036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.724000	0.91462	2.152000	0.67230	0.460000	0.39030	CAC		0.348	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			70	248	0	0	0	1	0	70	248				
IGDCC4	57722	broad.mit.edu	37	15	65678349	65678349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65678349C>T	ENST00000352385.2	-	18	3209	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1000						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGTACAGCGCGGGATTCC	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2998-3000)gcG>gcA		immunoglobulin superfamily, DCC subclass, member 4							7.0	9.0	8.0					15																	65678349		2163	4248	6411	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65678349C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3000G>A	15.37:g.65678349C>T			OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.A1000A	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			18	3209	-			1000					Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.3000G>A	CCDS10206.1																																																																																				0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		12	60	0	0	0	1	0	12	60				
RPE	6120	broad.mit.edu	37	2	210880820	210880820	+	Missense_Mutation	SNP	G	G	A	rs535548466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210880820G>A	ENST00000359429.6	+	3	423	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	109					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AAAGACATTCGGGAGAATGGG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18550	0.0		0.0	False		,,,				2504	0.0					ENST00000359429.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9						c.(325-327)cGg>cAg		ribulose-5-phosphate-3-epimerase							81.0	82.0	82.0					2																	210880820		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210880820G>A		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.326G>A	2.37:g.210880820G>A	ENSP00000352401:p.Arg109Gln					RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q	p.R109Q	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	3	423	+			109					A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.326G>A	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154513	0.57259	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000453724;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.42	5.42	0.78866	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.177006	0.48767	D	0.000162	T	0.72120	0.3421	M	0.74881	2.28	0.58432	D	0.999994	B;D;P;B;B	0.55800	0.377;0.973;0.751;0.322;0.259	B;P;B;B;B	0.50352	0.199;0.638;0.179;0.063;0.122	T	0.72497	-0.4275	9	0.39692	T	0.17	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	109;96;83;109;109	B4E016;B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;.;RPE_HUMAN;.	Q	109;41;41;41;41;41;109;41;41;41;41;109;41;41;109;83	.	ENSP00000346501:R83Q	R	+	2	0	RPE	210589065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.282000	0.72639	2.691000	0.91804	0.655000	0.94253	CGG		0.438	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		78	216	0	0	0	1	0	78	216				
EPN1	29924	broad.mit.edu	37	19	56206203	56206203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56206203C>T	ENST00000270460.6	+	10	1687	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	AC010525.7_ENST00000589698.1_lincRNA|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Missense_Mutation_p.A545V|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000085079.7_Missense_Mutation_p.A433V	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	459	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCACCTGCAGCCACACCAACT	0.701																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1633-1635)gCc>gTc		epsin 1							18.0	30.0	26.0					19																	56206203		2062	4186	6248	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206203C>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1376C>T	19.37:g.56206203C>T	ENSP00000270460:p.Ala459Val					EPN1_ENST00000085079.7_Missense_Mutation_p.A433V|EPN1_ENST00000270460.6_Missense_Mutation_p.A459V	p.A545V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	10	2181	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	459			3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1634C>T	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793851	0.16327	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15139	2.49;2.49;2.45	4.25	2.07	0.26955	.	0.887707	0.09614	N	0.778490	T	0.05960	0.0155	N	0.02916	-0.46	0.09310	N	0.999997	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.15052	0.001;0.012;0.001;0.001	T	0.42172	-0.9467	10	0.10111	T	0.7	-1.6637	5.5993	0.17345	0.0:0.7411:0.0:0.2589	.	419;545;459;433	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	459;433;419;545	ENSP00000270460:A459V;ENSP00000085079:A433V;ENSP00000406209:A545V	ENSP00000085079:A433V	A	+	2	0	EPN1	60898015	0.000000	0.05858	0.006000	0.13384	0.383000	0.30230	0.040000	0.13905	1.076000	0.40961	0.561000	0.74099	GCC		0.701	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		24	63	0	0	0	1	0	24	63				
NUDT14	256281	broad.mit.edu	37	14	105643299	105643299	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105643299C>T	ENST00000392568.2	-	3	284		c.e3+1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCTGGCCTCACCTGGCCGGAA	0.612										HNSCC(42;0.11)																												ENST00000392568.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.e3+1		nudix (nucleoside diphosphate linked moiety X)-type motif 14							39.0	33.0	35.0					14																	105643299		2193	4289	6482	SO:0001630	splice_region_variant	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643299C>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.190+1G>A	14.37:g.105643299C>T		HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA		NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	284	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)						Q86SJ8	Splice_Site	SNP	ENST00000392568.2	37		CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947373	0.73672	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8587	0.52453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUDT14	104714344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.518000	0.67068	2.506000	0.84524	0.655000	0.94253	.		0.612	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533	Intron	15	83	0	0	0	1	0	15	83				
PHF10	55274	broad.mit.edu	37	6	170104118	170104118	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170104118T>G	ENST00000339209.4	-	12	1601	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	WDR27_ENST00000448612.1_5'Flank|PHF10_ENST00000366780.4_Missense_Mutation_p.K491T|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000332290.2_3'UTR|WDR27_ENST00000420344.2_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	493					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTTGCTGTTTTTCCCCCTTCT	0.378																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(1477-1479)aAa>aCa		PHD finger protein 10							80.0	78.0	79.0					6																	170104118		2203	4300	6503	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170104118T>G	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1478A>C	6.37:g.170104118T>G	ENSP00000341805:p.Lys493Thr					C6orf120_ENST00000332290.2_3'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.K491T	p.K493T	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	12	1601	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	493					Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.1478A>C	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693890	0.68386	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.89746	-2.56;-2.56	5.98	4.82	0.62117	.	0.084171	0.85682	D	0.000000	T	0.81777	0.4894	N	0.25485	0.75	0.41228	D	0.986557	D;P	0.56521	0.976;0.925	P;B	0.51615	0.675;0.346	D	0.84625	0.0686	10	0.72032	D	0.01	-27.1967	11.2224	0.48864	0.0:0.0711:0.0:0.9289	.	491;493	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	T	491;493	ENSP00000355743:K491T;ENSP00000341805:K493T	ENSP00000341805:K493T	K	-	2	0	PHF10	169846043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.962000	0.70364	1.093000	0.41377	0.533000	0.62120	AAA		0.378	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		43	179	0	0	0	1	0	43	179				
ADRBK1	156	broad.mit.edu	37	11	67049925	67049925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049925G>A	ENST00000308595.5	+	13	1362	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGGGTACATGGCTCCGGAGGT	0.667																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1072-1074)Gct>Act		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						78.0	78.0	78.0					11																	67049925		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049925G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1072G>A	11.37:g.67049925G>A	ENSP00000312262:p.Ala358Thr					ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T|ADRBK1_ENST00000527176.1_3'UTR	p.A358T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1362	+			358			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1072G>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537423	0.85917	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.53423	0.62;0.62	5.7	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.80391	0.4614	H	0.97918	4.105	0.58432	D	0.999994	D;D	0.89917	0.997;1.0	D;D	0.77004	0.96;0.989	D	0.87699	0.2559	10	0.87932	D	0	-2.0703	16.7385	0.85453	0.0:0.1288:0.8712:0.0	.	358;358	P25098;E9PRV7	ARBK1_HUMAN;.	T	358	ENSP00000312262:A358T;ENSP00000434126:A358T	ENSP00000312262:A358T	A	+	1	0	ADRBK1	66806501	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.562000	0.82300	2.688000	0.91661	0.655000	0.94253	GCT		0.667	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		78	401	0	0	0	1	0	78	401				
MAP7D1	55700	broad.mit.edu	37	1	36640530	36640530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36640530C>T	ENST00000373151.2	+	6	987	c.771C>T	c.(769-771)aaC>aaT	p.N257N	MAP7D1_ENST00000373150.4_Silent_p.N257N|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	257					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGGCAGTTAACCTGCCCAAAC	0.612																																						ENST00000373151.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(769-771)aaC>aaT		MAP7 domain containing 1							64.0	64.0	64.0					1																	36640530		2203	4300	6503	SO:0001819	synonymous_variant	55700					cytoplasm|spindle		g.chr1:36640530C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.771C>T	1.37:g.36640530C>T						MAP7D1_ENST00000373150.4_Silent_p.N257N|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000316156.4_Intron	p.N257N	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN			6	987	+		Myeloproliferative disorder(586;0.0393)	257					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	c.771C>T	CCDS30673.1																																																																																				0.612	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		32	189	0	0	0	1	0	32	189				
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	rs147946123		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TTTGATTTCCGTAAACATGTC	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18732	0.0		0.0	False		,,,				2504	0.0					ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1108-1110)aCg>aTg		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						91.0	83.0	86.0					1																	244579342		2203	4299	6502	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244579342G>A	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1109C>T	1.37:g.244579342G>A	ENSP00000355493:p.Thr370Met						p.T370M	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		11	1425	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	370						Missense_Mutation	SNP	ENST00000366535.3	37	c.1109C>T	CCDS1624.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.7	4.032702	0.75504	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.43688	0.94	5.32	5.32	0.75619	.	0.152816	0.64402	D	0.000019	T	0.36110	0.0955	N	0.19112	0.55	0.38964	D	0.958613	P	0.44776	0.843	B	0.42851	0.4	T	0.41413	-0.9510	10	0.72032	D	0.01	-13.6572	18.999	0.92826	0.0:0.0:1.0:0.0	.	370	P30520	PURA2_HUMAN	M	370;349	ENSP00000355493:T370M	ENSP00000355493:T370M	T	-	2	0	ADSS	242645965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.281000	0.51685	2.470000	0.83445	0.563000	0.77884	ACG		0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		67	174	0	0	0	1	0	67	174				
PCDH12	51294	broad.mit.edu	37	5	141336470	141336470	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141336470G>T	ENST00000231484.3	-	1	2157	c.947C>A	c.(946-948)cCt>cAt	p.P316H	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTAGGCAGGGTTCTTTTC	0.512																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(946-948)cCt>cAt		protocadherin 12							70.0	63.0	66.0					5																	141336470		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336470G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.947C>A	5.37:g.141336470G>T	ENSP00000231484:p.Pro316His						p.P316H	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2157	-		all_hematologic(541;0.0999)	316			Cadherin 3.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.947C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	6.756	0.508335	0.12883	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.415449	0.27100	N	0.020930	T	0.46619	0.1402	L	0.37697	1.125	0.19945	N	0.99994	B	0.18610	0.029	B	0.18263	0.021	T	0.32877	-0.9890	10	0.39692	T	0.17	.	11.2965	0.49282	0.0:0.0:0.8184:0.1816	.	316	Q9NPG4	PCD12_HUMAN	H	316	ENSP00000231484:P316H	ENSP00000231484:P316H	P	-	2	0	PCDH12	141316654	0.132000	0.22450	0.993000	0.49108	0.774000	0.43823	2.647000	0.46639	2.731000	0.93534	0.655000	0.94253	CCT		0.512	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		16	321	1	0	1.15088e-07	1	1.19614e-07	16	321				
EGFL6	25975	broad.mit.edu	37	X	13618094	13618094	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13618094A>G	ENST00000361306.1	+	4	538	c.281A>G	c.(280-282)gAt>gGt	p.D94G	EGFL6_ENST00000380602.3_Splice_Site_p.D94G	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	94	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GTCCCTGCAGATGTGAATGAG	0.478																																						ENST00000361306.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.e4-1		EGF-like-domain, multiple 6							113.0	92.0	99.0					X																	13618094		2203	4300	6503	SO:0001630	splice_region_variant	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13618094A>G	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.281-1A>G	X.37:g.13618094A>G						EGFL6_ENST00000380602.3_Splice_Site_p.D94_splice	p.D94_splice	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN			4	538	+			94			EGF-like 2; calcium-binding (Potential).		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Splice_Site	SNP	ENST00000361306.1	37	c.280_splice	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949921	0.53186	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.99060	-5.38;-5.38	5.09	5.09	0.68999	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99253	1.0888	9	.	.	.	.	13.7231	0.62740	1.0:0.0:0.0:0.0	.	94;94	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	G	94	ENSP00000355126:D94G;ENSP00000369976:D94G	.	D	+	2	0	EGFL6	13528015	1.000000	0.71417	0.947000	0.38551	0.007000	0.05969	8.945000	0.92985	1.695000	0.51148	0.486000	0.48141	GAT		0.478	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507	Missense_Mutation	63	256	0	0	0	1	0	63	256				
OASL	8638	broad.mit.edu	37	12	121458478	121458478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121458478T>G	ENST00000257570.5	-	6	1701	c.1431A>C	c.(1429-1431)gaA>gaC	p.E477D	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	477	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGGAATTCCAGCTGCT	0.537																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(1429-1431)gaA>gaC		2'-5'-oligoadenylate synthetase-like							75.0	72.0	73.0					12																	121458478		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121458478T>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1431A>C	12.37:g.121458478T>G	ENSP00000257570:p.Glu477Asp					OASL_ENST00000339275.5_3'UTR	p.E477D	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			6	1701	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		477			Ubiquitin-like 2.		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.1431A>C	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254112	0.39896	.	.	ENSG00000135114	ENST00000257570	T	0.73152	-0.72	5.65	1.84	0.25277	Ubiquitin supergroup (1);Ubiquitin (2);	0.962372	0.08539	N	0.930852	T	0.60676	0.2287	L	0.41236	1.265	0.09310	N	1	P	0.38677	0.642	B	0.37550	0.253	T	0.49523	-0.8931	10	0.52906	T	0.07	-0.1712	7.0538	0.25087	0.0:0.6396:0.0:0.3604	.	477	Q15646	OASL_HUMAN	D	477	ENSP00000257570:E477D	ENSP00000257570:E477D	E	-	3	2	OASL	119942861	0.208000	0.23494	0.001000	0.08648	0.070000	0.16714	0.949000	0.29109	0.173000	0.19788	-0.242000	0.12053	GAA		0.537	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		12	271	0	0	0	1	0	12	271				
PDCD1	5133	broad.mit.edu	37	2	242794943	242794943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242794943G>A	ENST00000334409.5	-	2	335	c.266C>T	c.(265-267)cCc>cTc	p.P89L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	89	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTCCTGGCCGGGCTGGCTGCG	0.642																																						ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(265-267)cCc>cTc		programmed cell death 1							41.0	42.0	42.0					2																	242794943		2203	4300	6503	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794943G>A	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.266C>T	2.37:g.242794943G>A	ENSP00000335062:p.Pro89Leu						p.P89L	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	335	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	89			Ig-like V-type.		O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.266C>T	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.439872	0.43326	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.17854	2.25	3.01	-0.0193	0.13960	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.180690	0.06298	N	0.700368	T	0.27900	0.0687	M	0.79805	2.47	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.50708	0.648;0.648	T	0.19484	-1.0304	10	0.66056	D	0.02	-2.1115	1.7204	0.02910	0.1259:0.2057:0.4576:0.2109	.	89;89	Q8IX89;Q15116	.;PDCD1_HUMAN	L	89	ENSP00000335062:P89L	ENSP00000335062:P89L	P	-	2	0	PDCD1	242443616	0.041000	0.20044	0.001000	0.08648	0.685000	0.39939	0.153000	0.16323	-0.013000	0.14199	0.457000	0.33378	CCC		0.642	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		37	218	0	0	0	1	0	37	218				
PGLS	25796	broad.mit.edu	37	19	17628198	17628198	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17628198G>T	ENST00000252603.2	+	3	542	c.498G>T	c.(496-498)caG>caT	p.Q166H	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	166					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CCCTCCTACAGGTGAGCACAC	0.622																																						ENST00000252603.2																			0				endometrium(1)|lung(1)	2						c.e3+1		6-phosphogluconolactonase							80.0	83.0	82.0					19																	17628198		2203	4300	6503	SO:0001630	splice_region_variant	25796					cytosol	6-phosphogluconolactonase activity	g.chr19:17628198G>T	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.498+1G>T	19.37:g.17628198G>T							p.Q166_splice	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN			3	542	+			166						Splice_Site	SNP	ENST00000252603.2	37	c.498_splice	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019145	0.75275	.	.	ENSG00000130313	ENST00000252603	T	0.43688	0.94	5.03	5.03	0.67393	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.058221	0.64402	D	0.000001	T	0.54431	0.1858	L	0.43701	1.375	0.80722	D	1	D	0.56035	0.974	D	0.64595	0.927	T	0.49615	-0.8921	10	0.35671	T	0.21	-27.893	15.8907	0.79296	0.0:0.0:1.0:0.0	.	166	O95336	6PGL_HUMAN	H	166	ENSP00000252603:Q166H	ENSP00000252603:Q166H	Q	+	3	2	PGLS	17489198	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	8.833000	0.92089	2.339000	0.79563	0.485000	0.47835	CAG		0.622	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		Missense_Mutation	67	624	1	0	1.92745e-42	1	2.3466e-42	67	624				
ZMYND19	116225	broad.mit.edu	37	9	140481555	140481555	+	Missense_Mutation	SNP	G	G	A	rs368548125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140481555G>A	ENST00000298585.2	-	4	449	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	75						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCGGTGCCGCTCCCTAGAA	0.617																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(223-225)Cgg>Tgg		zinc finger, MYND-type containing 19		G	TRP/ARG	0,4406		0,0,2203	47.0	56.0	53.0		223	4.2	1.0	9		53	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZMYND19	NM_138462.2	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	75/228	140481555	1,13003	2203	4299	6502	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481555G>A	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.223C>T	9.37:g.140481555G>A	ENSP00000298585:p.Arg75Trp					ZMYND19_ENST00000471957.1_5'UTR	p.R75W	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	449	-	all_cancers(76;0.106)		75					Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.223C>T	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177643	0.78564	0.0	1.16E-4	ENSG00000165724	ENST00000298585	.	.	.	5.06	4.16	0.48862	.	0.110301	0.64402	D	0.000014	T	0.53530	0.1802	L	0.29908	0.895	0.50171	D	0.999857	D	0.69078	0.997	D	0.63597	0.916	T	0.56541	-0.7962	9	0.87932	D	0	-14.4175	6.0353	0.19704	0.0904:0.0:0.6267:0.2829	.	75	Q96E35	ZMY19_HUMAN	W	75	.	ENSP00000298585:R75W	R	-	1	2	ZMYND19	139601376	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.002000	0.49496	1.355000	0.45865	0.655000	0.94253	CGG		0.617	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		83	463	0	0	0	1	0	83	463				
CTTNBP2	83992	broad.mit.edu	37	7	117368189	117368189	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117368189A>G	ENST00000160373.3	-	17	4100	c.4009T>C	c.(4009-4011)Ttc>Ctc	p.F1337L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1337					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGACAGGAAATATTTTGGT	0.498																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4009-4011)Ttc>Ctc		cortactin binding protein 2							92.0	98.0	96.0					7																	117368189		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368189A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4009T>C	7.37:g.117368189A>G	ENSP00000160373:p.Phe1337Leu						p.F1337L	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	17	4100	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1337					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4009T>C	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.142339|5.142339	0.94560|0.94560	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	D|.	0.90444|.	-2.67|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.044917|0.044917	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.80681|0.80681	0.4669|0.4669	M|M	0.88105|0.88105	2.93|2.93	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.76494|.	0.999|.	D|.	0.75484|.	0.986|.	D|D	0.84109|0.84109	0.0400|0.0400	10|6	0.87932|.	D|.	0|.	4.1753|4.1753	15.7672|15.7672	0.78135|0.78135	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1337|.	Q8WZ74|.	CTTB2_HUMAN|.	L|S	1337|824	ENSP00000160373:F1337L|.	ENSP00000160373:F1337L|.	F|F	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117155425|117155425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.395000|8.395000	0.90188|0.90188	2.183000|2.183000	0.69458|0.69458	0.528000|0.528000	0.53228|0.53228	TTC|TTT		0.498	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		56	584	0	0	0	1	0	56	584				
BCHE	590	broad.mit.edu	37	3	165504015	165504015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165504015C>T	ENST00000264381.3	-	3	1768	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	534					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCTTGTTGACTCTGTATTCA	0.358																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1600-1602)gaG>gaA		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						153.0	140.0	144.0					3																	165504015		2203	4299	6502	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165504015C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1602G>A	3.37:g.165504015C>T						BCHE_ENST00000540653.1_5'UTR	p.E534E	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			3	1768	-			534					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.1602G>A	CCDS3198.1																																																																																				0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			34	177	0	0	0	1	0	34	177				
MYPN	84665	broad.mit.edu	37	10	69966658	69966658	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69966658A>G	ENST00000358913.5	+	19	4279	c.3791A>G	c.(3790-3792)tAc>tGc	p.Y1264C	MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C|MYPN_ENST00000354393.2_Missense_Mutation_p.Y989C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1264	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTGGATATATACGGTAAGTGT	0.448																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3790-3792)tAc>tGc		myopalladin							93.0	87.0	89.0					10																	69966658		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69966658A>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3791A>G	10.37:g.69966658A>G	ENSP00000351790:p.Tyr1264Cys					MYPN_ENST00000354393.2_Missense_Mutation_p.Y989C|MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C	p.Y1264C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			19	4279	+			1264			Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3791A>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328369	0.81690	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.74002	-0.8;-0.8;-0.8	5.65	5.65	0.86999	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83450	0.0048	9	.	.	.	.	15.8643	0.79052	1.0:0.0:0.0:0.0	.	1264;989;1264	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	989;989;1264;1264	ENSP00000346369:Y989C;ENSP00000351790:Y1264C;ENSP00000441668:Y1264C	.	Y	+	2	0	MYPN	69636664	1.000000	0.71417	0.990000	0.47175	0.815000	0.46073	9.339000	0.96797	2.152000	0.67230	0.402000	0.26972	TAC		0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		71	235	0	0	0	1	0	71	235				
KRT19	3880	broad.mit.edu	37	17	39684192	39684192	+	Missense_Mutation	SNP	G	G	A	rs533516685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39684192G>A	ENST00000361566.3	-	1	368	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	103	Coil 1A.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCGTTGGCCGCCTCCAGGGC	0.657																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(307-309)gCg>gTg		keratin 19							51.0	58.0	56.0					17																	39684192		2203	4300	6503	SO:0001583	missense	3880							g.chr17:39684192G>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.308C>T	17.37:g.39684192G>A	ENSP00000355124:p.Ala103Val						p.A103V	NM_002276.4	NP_002267.2					1	368	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.308C>T	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425371	0.62733	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89552	-2.53;-2.53	4.83	-2.78	0.05859	Filament (1);	2.457230	0.01645	N	0.024244	D	0.85535	0.5719	L	0.42632	1.34	0.09310	N	1	P	0.44260	0.83	B	0.37239	0.244	T	0.77362	-0.2616	10	0.66056	D	0.02	.	14.817	0.70041	0.0:0.0657:0.7151:0.2192	.	103	P08727	K1C19_HUMAN	V	103	ENSP00000355124:A103V;ENSP00000408759:A103V	ENSP00000355124:A103V	A	-	2	0	KRT19	36937718	0.000000	0.05858	0.252000	0.24328	0.992000	0.81027	-0.060000	0.11712	-0.783000	0.04534	0.462000	0.41574	GCG		0.657	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		115	591	0	0	0	1	0	115	591				
HTRA3	94031	broad.mit.edu	37	4	8284228	8284228	+	Silent	SNP	C	C	T	rs372926582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8284228C>T	ENST00000307358.2	+	2	654	c.450C>T	c.(448-450)atC>atT	p.I150I	HTRA3_ENST00000382512.3_Silent_p.I150I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	150					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGGAGAAGATCGCACCAGCCG	0.622																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(448-450)atC>atT		HtrA serine peptidase 3							106.0	83.0	91.0					4																	8284228		2203	4300	6503	SO:0001819	synonymous_variant	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8284228C>T	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.450C>T	4.37:g.8284228C>T						HTRA3_ENST00000382512.3_Silent_p.I150I	p.I150I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			2	654	+			150					Q7Z7A2	Silent	SNP	ENST00000307358.2	37	c.450C>T	CCDS3400.1																																																																																				0.622	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		6	188	0	0	0	1	0	6	188				
ZNF568	374900	broad.mit.edu	37	19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T	rs565321465	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440779C>T	ENST00000333987.7	+	7	1230	c.724C>T	c.(724-726)Cga>Tga	p.R242*	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Nonsense_Mutation_p.R178*|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378													C|||	2	0.000399361	0.0	0.0	5008	,	,		20962	0.0		0.0	False		,,,				2504	0.002					ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(532-534)Cga>Tga		zinc finger protein 568							58.0	60.0	59.0					19																	37440779		2100	4260	6360	SO:0001587	stop_gained	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440779C>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.724C>T	19.37:g.37440779C>T	ENSP00000334685:p.Arg242*					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.R242*|ZNF568_ENST00000455427.2_Intron	p.R178*	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	908	+	Esophageal squamous(110;0.183)		242					B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	37	c.532C>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664843	0.96745	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	3.83	1.7	0.24286	.	0.190064	0.26075	N	0.026483	.	.	.	.	.	.	0.26320	N	0.977697	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5379	0.07800	0.5614:0.2167:0.222:0.0	.	.	.	.	X	242;178	.	ENSP00000334685:R242X	R	+	1	2	ZNF568	42132619	0.000000	0.05858	0.028000	0.17463	0.950000	0.60333	-0.139000	0.10358	0.181000	0.19994	-0.271000	0.10264	CGA		0.378	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		74	278	0	0	0	1	0	74	278				
ZEB2	9839	broad.mit.edu	37	2	145187540	145187540	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145187540T>C	ENST00000558170.2	-	3	1311	c.127A>G	c.(127-129)Aag>Gag	p.K43E	ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	43					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATGAAGCTTGTCTTCCTCA	0.488																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(127-129)Aag>Gag		zinc finger E-box binding homeobox 2							132.0	101.0	111.0					2																	145187540		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145187540T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.127A>G	2.37:g.145187540T>C	ENSP00000454157:p.Lys43Glu					ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E	p.K43E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	3	1311	-			43					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.127A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766447	0.69878	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831;ENST00000444559	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.9	5.9	0.94986	.	0.047892	0.85682	D	0.000000	D	0.92512	0.7622	M	0.70595	2.14	0.58432	D	0.999999	P;P;D;B;B	0.67145	0.804;0.622;0.996;0.39;0.39	B;B;P;B;B	0.55923	0.213;0.152;0.787;0.074;0.074	D	0.93282	0.6661	10	0.87932	D	0	-15.9296	16.3291	0.83001	0.0:0.0:0.0:1.0	.	43;43;43;43;43	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315	.;.;.;.;ZEB2_HUMAN	E	38;43;43;43;43;43;43;43;43	ENSP00000443792:K43E;ENSP00000302501:K43E;ENSP00000386854:K43E;ENSP00000395496:K43E;ENSP00000376601:K43E;ENSP00000387256:K43E;ENSP00000400993:K43E;ENSP00000399451:K43E	ENSP00000302501:K43E	K	-	1	0	ZEB2	144904010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.586000	0.82596	2.257000	0.74773	0.528000	0.53228	AAG		0.488	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		99	244	0	0	0	1	0	99	244				
LIPG	9388	broad.mit.edu	37	18	47101920	47101920	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47101920C>T	ENST00000261292.4	+	5	1031	c.753C>T	c.(751-753)ggC>ggT	p.G251G	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000580036.1_Silent_p.G251G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	251					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCAGCCAGGCTGTGGACTCA	0.483																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(751-753)ggC>ggT		lipase, endothelial							85.0	69.0	75.0					18																	47101920		2203	4300	6503	SO:0001819	synonymous_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101920C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.753C>T	18.37:g.47101920C>T						LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000580036.1_Silent_p.G251G|LIPG_ENST00000427224.2_Intron	p.G251G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			5	1031	+			251					B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	c.753C>T	CCDS11938.1																																																																																				0.483	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		41	178	0	0	0	1	0	41	178				
KLHL1	57626	broad.mit.edu	37	13	70413134	70413134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70413134G>T	ENST00000377844.4	-	6	2147	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	463					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTCCTACAGCATACAAAGT	0.343																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1387-1389)gCt>gAt		kelch-like family member 1							120.0	112.0	114.0					13																	70413134		2201	4299	6500	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70413134G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1388C>A	13.37:g.70413134G>T	ENSP00000367075:p.Ala463Asp					KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	p.A463D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	6	2147	-		Breast(118;0.000162)	463					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1388C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859769	0.91433	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.80214	-1.35;-1.35	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.199083	0.35096	N	0.003456	D	0.93719	0.7993	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	D	0.95790	0.8824	10	0.87932	D	0	.	18.9658	0.92695	0.0:0.0:1.0:0.0	.	463;463	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	463;270	ENSP00000367075:A463D;ENSP00000439602:A270D	ENSP00000367075:A463D	A	-	2	0	KLHL1	69311135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.752000	0.98900	2.565000	0.86533	0.591000	0.81541	GCT		0.343	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		21	144	1	0	2.39556e-15	1	2.61601e-15	21	144				
HELZ2	85441	broad.mit.edu	37	20	62193938	62193938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62193938C>T	ENST00000467148.1	-	8	6306	c.6237G>A	c.(6235-6237)ccG>ccA	p.P2079P	HELZ2_ENST00000427522.2_Silent_p.P1510P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2079					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCACCTCTTCCGGAACCTTCT	0.662																																						ENST00000467148.1																			0											c.(6235-6237)ccG>ccA		helicase with zinc finger 2, transcriptional coactivator																																				SO:0001819	synonymous_variant	85441							g.chr20:62193938C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6237G>A	20.37:g.62193938C>T						HELZ2_ENST00000427522.2_Silent_p.P1510P	p.P2079P	NM_001037335.2	NP_001032412.2					8	6306	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6237G>A	CCDS33508.1																																																																																				0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		9	51	0	0	0	1	0	9	51				
TMEM198	130612	broad.mit.edu	37	2	220412347	220412347	+	Missense_Mutation	SNP	G	G	A	rs374926309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412347G>A	ENST00000344458.2	+	4	871	c.286G>A	c.(286-288)Gcg>Acg	p.A96T	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	96	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCGAGCGCGGGCATCGC	0.652																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(286-288)Gcg>Acg		transmembrane protein 198		G	THR/ALA	0,4406		0,0,2203	135.0	132.0	133.0		286	4.1	0.8	2		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM198	NM_001005209.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	96/361	220412347	1,13005	2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220412347G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.286G>A	2.37:g.220412347G>A	ENSP00000343507:p.Ala96Thr					RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T	p.A96T			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	871	+		Renal(207;0.0376)	96			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.286G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871742	0.91587	0.0	1.16E-4	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.071196	0.56097	D	0.000021	T	0.72447	0.3461	M	0.71581	2.175	0.46279	D	0.998965	D	0.67145	0.996	P	0.56163	0.793	T	0.74003	-0.3804	9	0.37606	T	0.19	-26.0437	16.3706	0.83357	0.0:0.0:1.0:0.0	.	96	Q66K66	TM198_HUMAN	T	96	.	ENSP00000343507:A96T	A	+	1	0	TMEM198	220120591	1.000000	0.71417	0.786000	0.31890	0.668000	0.39293	9.472000	0.97709	2.253000	0.74438	0.591000	0.81541	GCG		0.652	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		213	1114	0	0	0	1	0	213	1114				
CELSR3	1951	broad.mit.edu	37	3	48696595	48696595	+	Missense_Mutation	SNP	C	C	T	rs61729234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48696595C>T	ENST00000164024.4	-	1	3753	c.3473G>A	c.(3472-3474)cGc>cAc	p.R1158H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1158H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1158	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCAACCAGGCGGACGTGCAC	0.532																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3472-3474)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 3							123.0	119.0	121.0					3																	48696595		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696595C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3473G>A	3.37:g.48696595C>T	ENSP00000164024:p.Arg1158His					CELSR3_ENST00000164024.4_Missense_Mutation_p.R1158H	p.R1158H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3753	-			1158			Cadherin 8.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3473G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	5.571	0.290134	0.10567	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.51574	0.7;0.7	5.63	4.75	0.60458	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	N	0.20445	0.575	0.32999	D	0.525948	B;B	0.23316	0.083;0.047	B;B	0.25987	0.065;0.012	T	0.33317	-0.9873	9	0.11794	T	0.64	.	6.7548	0.23507	0.0:0.7018:0.0:0.2982	.	1158;1228	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1158	ENSP00000164024:R1158H;ENSP00000445694:R1158H	ENSP00000164024:R1158H	R	-	2	0	CELSR3	48671599	0.988000	0.35896	0.997000	0.53966	0.894000	0.52154	2.409000	0.44583	1.389000	0.46526	0.561000	0.74099	CGC		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		83	432	0	0	0	1	0	83	432				
XDH	7498	broad.mit.edu	37	2	31593326	31593326	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31593326T>G	ENST00000379416.3	-	18	1923	c.1875A>C	c.(1873-1875)gaA>gaC	p.E625D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	625					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTTCTTAGCTTCTGATGTAT	0.478																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1873-1875)gaA>gaC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						93.0	80.0	84.0					2																	31593326		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31593326T>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1875A>C	2.37:g.31593326T>G	ENSP00000368727:p.Glu625Asp						p.E625D	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			18	1923	-	Acute lymphoblastic leukemia(172;0.155)		625					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1875A>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102553	0.37145	.	.	ENSG00000158125	ENST00000379416	T	0.13089	2.62	6.17	2.51	0.30379	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.430804	0.29253	N	0.012683	T	0.21022	0.0506	M	0.66939	2.045	0.44985	D	0.998004	B	0.24317	0.101	B	0.39152	0.292	T	0.02877	-1.1099	10	0.54805	T	0.06	.	9.2083	0.37302	0.0:0.2166:0.0:0.7834	.	625	P47989	XDH_HUMAN	D	625	ENSP00000368727:E625D	ENSP00000368727:E625D	E	-	3	2	XDH	31446830	1.000000	0.71417	0.995000	0.50966	0.355000	0.29361	0.639000	0.24690	0.197000	0.20387	0.533000	0.62120	GAA		0.478	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		37	143	0	0	0	1	0	37	143				
LRP1B	53353	broad.mit.edu	37	2	141641588	141641588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141641588C>T	ENST00000389484.3	-	25	4938	c.3967G>A	c.(3967-3969)Gtc>Atc	p.V1323I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1323					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGCACTGACACCTACAAAA	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3967-3969)Gtc>Atc		low density lipoprotein receptor-related protein 1B							94.0	89.0	90.0					2																	141641588		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641588C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3967G>A	2.37:g.141641588C>T	ENSP00000374135:p.Val1323Ile	TSP Lung(27;0.18)					p.V1323I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	4938	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1323					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3967G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177576	0.21787	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96265	-2.79;-3.96	5.54	5.54	0.83059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.93455	0.7912	N	0.25144	0.715	0.52501	D	0.999953	B;D	0.53312	0.277;0.959	B;B	0.43950	0.145;0.437	D	0.92742	0.6209	10	0.33940	T	0.23	.	19.8426	0.96695	0.0:1.0:0.0:0.0	.	506;1323	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1323;1261;468	ENSP00000374135:V1323I;ENSP00000413239:V468I	ENSP00000374135:V1323I	V	-	1	0	LRP1B	141358058	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.728000	0.68531	2.751000	0.94390	0.591000	0.81541	GTC		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	350	0	0	0	1	0	34	350				
SHC4	399694	broad.mit.edu	37	15	49135605	49135605	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49135605C>T	ENST00000332408.4	-	10	1912		c.e10+1		SHC4_ENST00000537958.1_Splice_Site|SHC4_ENST00000396535.3_Splice_Site	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAGCTACTTACTTCCGCAGTG	0.458																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.e10+1		SHC (Src homology 2 domain containing) family, member 4							143.0	142.0	142.0					15																	49135605		2197	4295	6492	SO:0001630	splice_region_variant	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49135605C>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1483+1G>A	15.37:g.49135605C>T						SHC4_ENST00000396535.3_Splice_Site|SHC4_ENST00000537958.1_Splice_Site		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	10	1912	-		all_lung(180;0.00466)						Q6UXQ3|Q8IYW3	Splice_Site	SNP	ENST00000332408.4	37		CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712436	0.68730	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6164	0.76769	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHC4	46922897	1.000000	0.71417	0.990000	0.47175	0.817000	0.46193	4.674000	0.61612	2.591000	0.87537	0.650000	0.86243	.		0.458	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	Intron	143	723	0	0	0	1	0	143	723				
DOCK7	85440	broad.mit.edu	37	1	63113959	63113959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63113959C>T	ENST00000340370.5	-	6	567	c.550G>A	c.(550-552)Gat>Aat	p.D184N	DOCK7_ENST00000251157.5_Missense_Mutation_p.D184N|DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	184					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGGGTATCATCTATTGACATT	0.318																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(550-552)Gat>Aat		dedicator of cytokinesis 7							58.0	59.0	59.0					1																	63113959		2195	4298	6493	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113959C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.550G>A	1.37:g.63113959C>T	ENSP00000340742:p.Asp184Asn					DOCK7_ENST00000340370.5_Missense_Mutation_p.D184N|DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N	p.D184N	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			6	583	-			184					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.550G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832618	0.91036	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.20738	2.48;2.48;2.05	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.71581	2.175	0.80722	D	1	B;P;D;D;P	0.69078	0.129;0.887;0.968;0.997;0.511	B;P;P;D;B	0.66497	0.046;0.811;0.864;0.944;0.209	T	0.09840	-1.0656	10	0.42905	T	0.14	.	17.4531	0.87597	0.0:1.0:0.0:0.0	.	184;184;184;184;184	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	N	184	ENSP00000251157:D184N;ENSP00000340742:D184N;ENSP00000384446:D184N	ENSP00000251157:D184N	D	-	1	0	DOCK7	62886547	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.563000	0.82314	2.333000	0.79357	0.462000	0.41574	GAT		0.318	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		65	231	0	0	0	1	0	65	231				
PAX9	5083	broad.mit.edu	37	14	37132689	37132689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132689G>A	ENST00000361487.6	+	2	817	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	PAX9_ENST00000554201.1_Missense_Mutation_p.V11I|PAX9_ENST00000402703.2_Missense_Mutation_p.V198I			P55771	PAX9_HUMAN	paired box 9	198					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CTCGCACTCCGTCACCGACAT	0.716																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(592-594)Gtc>Atc		paired box 9							31.0	32.0	32.0					14																	37132689		2202	4297	6499	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132689G>A	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.592G>A	14.37:g.37132689G>A	ENSP00000355245:p.Val198Ile					PAX9_ENST00000554201.1_Missense_Mutation_p.V11I|PAX9_ENST00000402703.2_Missense_Mutation_p.V198I	p.V198I			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	817	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		198					Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.592G>A	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561606	0.86335	.	.	ENSG00000198807	ENST00000402703;ENST00000361487;ENST00000554201	D;D;T	0.99353	-5.77;-5.77;0.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.99683	1.0999	10	0.37606	T	0.19	.	18.8295	0.92132	0.0:0.0:1.0:0.0	.	198	P55771	PAX9_HUMAN	I	198;198;11	ENSP00000384817:V198I;ENSP00000355245:V198I;ENSP00000450434:V11I	ENSP00000355245:V198I	V	+	1	0	PAX9	36202440	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.861000	0.99562	2.445000	0.82738	0.561000	0.74099	GTC		0.716	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			84	341	0	0	0	1	0	84	341				
ATP2A1	487	broad.mit.edu	37	16	28900144	28900144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28900144G>A	ENST00000357084.3	+	9	1232	c.965G>A	c.(964-966)gGt>gAt	p.G322D	ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D|ATP2A1_ENST00000395503.4_Missense_Mutation_p.G322D	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	322					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGGCCCTGGGTACCCGTCGG	0.602																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(964-966)gGt>gAt		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							128.0	115.0	119.0					16																	28900144		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900144G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.965G>A	16.37:g.28900144G>A	ENSP00000349595:p.Gly322Asp					ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D|ATP2A1_ENST00000357084.3_Missense_Mutation_p.G322D	p.G322D	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1149	+			322					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.965G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569331	0.86439	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.92397	-2.9;-2.9;-3.03	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99797	1.1034	10	0.87932	D	0	.	17.984	0.89151	0.0:0.0:1.0:0.0	.	197;322;322	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	D	322;322;359;197	ENSP00000349595:G322D;ENSP00000378879:G322D;ENSP00000443101:G197D	ENSP00000349595:G322D	G	+	2	0	ATP2A1	28807645	1.000000	0.71417	0.958000	0.39756	0.611000	0.37282	9.838000	0.99474	2.538000	0.85594	0.467000	0.42956	GGT		0.602	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		153	608	0	0	0	1	0	153	608				
SDK1	221935	broad.mit.edu	37	7	4002385	4002385	+	Missense_Mutation	SNP	G	G	A	rs375595635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4002385G>A	ENST00000404826.2	+	9	1470	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	444	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R444H(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGGCCTGCGCATCCAGAAG	0.592																																						ENST00000404826.2																			1	Substitution - Missense(1)	p.R444H(1)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1330-1332)cGc>cAc		sidekick cell adhesion molecule 1		G	HIS/ARG	0,4406		0,0,2203	50.0	44.0	46.0		1331	2.5	1.0	7		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	444/2214	4002385	1,13005	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4002385G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1331G>A	7.37:g.4002385G>A	ENSP00000385899:p.Arg444His					SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	p.R444H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	9	1470	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	444			Ig-like C2-type 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1331G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610179	0.28712	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.69040	-0.37;-0.37	5.34	2.47	0.30058	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260591	0.33217	N	0.005157	T	0.51058	0.1652	L	0.31926	0.97	0.24963	N	0.991715	B	0.18166	0.026	B	0.09377	0.004	T	0.42413	-0.9453	10	0.40728	T	0.16	.	9.158	0.37005	0.3009:0.0:0.6991:0.0	.	444	Q7Z5N4	SDK1_HUMAN	H	444	ENSP00000385899:R444H;ENSP00000374182:R444H	ENSP00000374182:R444H	R	+	2	0	SDK1	3968911	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.932000	0.40143	0.711000	0.32018	0.650000	0.86243	CGC		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		28	113	0	0	0	1	0	28	113				
EPAS1	2034	broad.mit.edu	37	2	46603819	46603819	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46603819G>T	ENST00000263734.3	+	9	1686	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	392					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATTCACCAAGCTAAAGGAGG	0.562																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1174-1176)aaG>aaT		endothelial PAS domain protein 1							88.0	93.0	91.0					2																	46603819		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46603819G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1176G>T	2.37:g.46603819G>T	ENSP00000263734:p.Lys392Asn						p.K392N	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		9	1686	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	392					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1176G>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586851	0.46110	.	.	ENSG00000116016	ENST00000263734	T	0.53640	0.61	5.38	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.82193	2.58	0.49213	D	0.999769	B	0.21225	0.053	B	0.21917	0.037	T	0.51631	-0.8681	10	0.72032	D	0.01	.	8.7763	0.34765	0.3083:0.0:0.6917:0.0	.	392	Q99814	EPAS1_HUMAN	N	392	ENSP00000263734:K392N	ENSP00000263734:K392N	K	+	3	2	EPAS1	46457323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.883000	0.28200	0.628000	0.30357	0.462000	0.41574	AAG		0.562	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		106	772	1	0	5.12507e-49	1	6.33484e-49	106	772				
BRICD5	283870	broad.mit.edu	37	16	2259423	2259423	+	Silent	SNP	G	G	A	rs561967169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2259423G>A	ENST00000562360.1	-	5	722	c.723C>T	c.(721-723)atC>atT	p.I241I	BRICD5_ENST00000328540.3_Silent_p.I209I|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	241						integral component of membrane (GO:0016021)											AGCAGATGTCGATGCAGAGAT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17175	0.0		0.0	False		,,,				2504	0.001					ENST00000328540.3																			0											c.(625-627)atC>atT		BRICHOS domain containing 5							63.0	62.0	62.0					16																	2259423		2198	4300	6498	SO:0001819	synonymous_variant	283870							g.chr16:2259423G>A	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.723C>T	16.37:g.2259423G>A						BRICD5_ENST00000562360.1_Silent_p.I241I	p.I209I	NM_182563.3	NP_872369.2					6	1743	-								C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	c.627C>T	CCDS10463.1																																																																																				0.632	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		48	394	0	0	0	1	0	48	394				
GABRA4	2557	broad.mit.edu	37	4	46976326	46976326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46976326G>A	ENST00000264318.3	-	6	1626	c.644C>T	c.(643-645)cCg>cTg	p.P215L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	215					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P215L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGACTCCTTCGGAACTTCAAC	0.393																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			1	Substitution - Missense(1)	p.P215L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(643-645)cCg>cTg		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						116.0	107.0	110.0					4																	46976326		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46976326G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.644C>T	4.37:g.46976326G>A	ENSP00000264318:p.Pro215Leu						p.P215L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			6	1626	-			215					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.644C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118152	0.94385	.	.	ENSG00000109158	ENST00000264318	T	0.78816	-1.21	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85239	0.1037	10	0.62326	D	0.03	.	18.22	0.89898	0.0:0.0:1.0:0.0	.	215	P48169	GBRA4_HUMAN	L	215	ENSP00000264318:P215L	ENSP00000264318:P215L	P	-	2	0	GABRA4	46671083	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.657000	0.98554	2.774000	0.95407	0.650000	0.86243	CCG		0.393	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			69	307	0	0	0	1	0	69	307				
TBC1D2B	23102	broad.mit.edu	37	15	78322507	78322507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78322507G>A	ENST00000300584.3	-	4	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.S230L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	230							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGACATCGAATTCCTGTT	0.353																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(688-690)tCg>tTg		TBC1 domain family, member 2B							49.0	44.0	46.0					15																	78322507		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78322507G>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.689C>T	15.37:g.78322507G>A	ENSP00000300584:p.Ser230Leu					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S230L	p.S230L			Q9UPU7	TBD2B_HUMAN			4	760	-			230					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.689C>T	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.453516|3.453516	0.63290|0.63290	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.10763	.|2.84;2.84	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.135418	.|0.51477	.|D	.|0.000098	.|T	.|0.33904	.|0.0879	M|M	0.75447|0.75447	2.3|2.3	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.69307	.|0.963;0.909	.|T	.|0.09952	.|-1.0651	.|10	.|0.87932	.|D	.|0	.|.	17.4355|17.4355	0.87550|0.87550	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|230;230	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	X|L	112|230;230;118	.|ENSP00000387165:S230L;ENSP00000300584:S230L	.|ENSP00000300584:S230L	R|S	-|-	1|2	2|0	TBC1D2B|TBC1D2B	76109562|76109562	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.583000|0.583000	0.36354|0.36354	5.682000|5.682000	0.68182|0.68182	2.350000|2.350000	0.79820|0.79820	0.467000|0.467000	0.42956|0.42956	CGA|TCG		0.353	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		18	87	0	0	0	1	0	18	87				
SGSM1	129049	broad.mit.edu	37	22	25251633	25251633	+	Missense_Mutation	SNP	G	G	A	rs369682941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251633G>A	ENST00000400359.4	+	8	794	c.787G>A	c.(787-789)Gtt>Att	p.V263I	SGSM1_ENST00000400358.4_Missense_Mutation_p.V263I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	263						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAAAACAACGTTCTTGTTCA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		22314	0.0		0.0	False		,,,				2504	0.001					ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(787-789)Gtt>Att		small G protein signaling modulator 1		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4026		0,0,2013	82.0	89.0	87.0		787,787,787,787	4.1	1.0	22		87	1,8363		0,1,4181	no	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	29,29,29,29	0,1,6194	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	263/1149,263/1094,263/1033,263/1088	25251633	1,12389	2013	4182	6195	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25251633G>A	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.787G>A	22.37:g.25251633G>A	ENSP00000383212:p.Val263Ile					SGSM1_ENST00000400359.4_Missense_Mutation_p.V263I	p.V263I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			8	844	+			263					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.787G>A	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140086	0.77775	0.0	1.2E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.19669	2.17;2.13	4.05	4.05	0.47172	.	0.058022	0.64402	N	0.000002	T	0.50820	0.1638	M	0.85859	2.78	0.80722	D	1	P;D;D;P;D	0.89917	0.917;0.999;1.0;0.955;0.985	B;D;D;B;D	0.91635	0.357;0.99;0.999;0.332;0.939	T	0.61749	-0.6999	10	0.87932	D	0	-25.9808	15.5962	0.76583	0.0:0.0:1.0:0.0	.	263;238;396;263;238	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	I	238;263;263	ENSP00000383211:V263I;ENSP00000383212:V263I	ENSP00000383211:V263I	V	+	1	0	SGSM1	23581633	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	9.711000	0.98735	1.982000	0.57802	0.478000	0.44815	GTT		0.552	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		34	171	0	0	0	1	0	34	171				
P2RY11	5032	broad.mit.edu	37	19	10224727	10224727	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10224727C>A	ENST00000321826.4	+	2	622	c.438C>A	c.(436-438)gcC>gcA	p.A146A	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.A566A|PPAN_ENST00000556468.1_Silent_p.A566A	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	146					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCAAGCACGCCTGGGCCGTGA	0.677																																						ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1696-1698)gcC>gcA		peter pan homolog (Drosophila)							50.0	46.0	47.0					19																	10224727		2203	4300	6503	SO:0001819	synonymous_variant	56342							g.chr19:10224727C>A	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.438C>A	19.37:g.10224727C>A						PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Silent_p.A146A|PPAN-P2RY11_ENST00000393796.4_Silent_p.A566A	p.A566A					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1725	+								B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.1698C>A	CCDS12226.1																																																																																				0.677	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		49	328	1	0	5.34276e-22	1	6.03513e-22	49	328				
FAM84A	151354	broad.mit.edu	37	2	14774452	14774452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774452C>A	ENST00000295092.2	+	2	637	c.349C>A	c.(349-351)Cca>Aca	p.P117T	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	117										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CACCGCGCTGCCAGCGCTCTG	0.706																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(349-351)Cca>Aca		family with sequence similarity 84, member A							7.0	9.0	8.0					2																	14774452		2143	4188	6331	SO:0001583	missense	151354							g.chr2:14774452C>A	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.349C>A	2.37:g.14774452C>A	ENSP00000295092:p.Pro117Thr					FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T	p.P117T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	637	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		117					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.349C>A	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745272|3.745272	0.69418|0.69418	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000295092;ENST00000331243;ENST00000359969	.|T;T	.|0.03635	.|3.86;3.86	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.06962|0.06962	0.0177|0.0177	L|L	0.43152|0.43152	1.355|1.355	0.39240|0.39240	D|D	0.963845|0.963845	.|P	.|0.49447	.|0.924	.|P	.|0.49597	.|0.616	T|T	0.16689|0.16689	-1.0394|-1.0394	6|10	0.87932|0.52906	D|T	0|0.07	-20.9794|-20.9794	11.112|11.112	0.48239|0.48239	0.0:0.9147:0.0:0.0853|0.0:0.9147:0.0:0.0853	.|.	.|117	.|Q96KN4	.|FA84A_HUMAN	D|T	24|117	.|ENSP00000295092:P117T;ENSP00000330681:P117T	ENSP00000443261:A24D|ENSP00000295092:P117T	A|P	+|+	2|1	0|0	FAM84A|FAM84A	14691903|14691903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.210000|3.210000	0.51129|0.51129	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.706	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		18	66	1	0	3.52763e-06	1	3.62938e-06	18	66				
WSCD1	23302	broad.mit.edu	37	17	5991326	5991326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5991326C>A	ENST00000574946.1	+	3	834	c.444C>A	c.(442-444)tgC>tgA	p.C148*	WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*			Q658N2	WSCD1_HUMAN	WSC domain containing 1	148	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACATTGGATGCTTCAGTGACG	0.537																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(442-444)tgC>tgA		WSC domain containing 1							143.0	122.0	129.0					17																	5991326		2203	4300	6503	SO:0001587	stop_gained	23302					integral to membrane	sulfotransferase activity	g.chr17:5991326C>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.444C>A	17.37:g.5991326C>A	ENSP00000460825:p.Cys148*					WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*	p.C148*			Q658N2	WSCD1_HUMAN			3	834	+			148			WSC 1.		A8K0N8|D3DTM3|O60276|Q96G45	Nonsense_Mutation	SNP	ENST00000574946.1	37	c.444C>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311578	0.95655	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	.	.	.	5.97	0.48	0.16804	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.1992	5.589	0.17291	0.0:0.5469:0.1346:0.3186	.	.	.	.	X	148	.	ENSP00000323087:C148X	C	+	3	2	WSCD1	5932050	0.993000	0.37304	0.990000	0.47175	0.070000	0.16714	0.321000	0.19558	0.098000	0.17522	-0.140000	0.14226	TGC		0.537	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		18	396	1	0	8.34094e-07	1	8.61956e-07	18	396				
SIGLEC1	6614	broad.mit.edu	37	20	3669866	3669866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3669866C>T	ENST00000344754.4	-	20	5005	c.5006G>A	c.(5005-5007)cGt>cAt	p.R1669H	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1669					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.1670_1673del(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTTACAAACACGCCTCCTTCT	0.582																																						ENST00000344754.4																			1	Deletion - In frame(1)	p.1670_1673del(1)	breast(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(5005-5007)cGt>cAt		sialic acid binding Ig-like lectin 1, sialoadhesin							198.0	173.0	181.0					20																	3669866		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3669866C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.5006G>A	20.37:g.3669866C>T	ENSP00000341141:p.Arg1669His					SIGLEC1_ENST00000202578.4_Intron	p.R1669H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			20	5005	-			1669					Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.5006G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202355	0.22121	.	.	ENSG00000088827	ENST00000344754	T	0.24151	1.87	5.38	-3.64	0.04515	.	2.282560	0.02156	N	0.058429	T	0.10035	0.0246	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10730	-1.0617	10	0.33141	T	0.24	.	0.5307	0.00628	0.2761:0.3107:0.195:0.2182	.	1669	Q9BZZ2	SN_HUMAN	H	1669	ENSP00000341141:R1669H	ENSP00000341141:R1669H	R	-	2	0	SIGLEC1	3617866	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.189000	0.03061	-0.904000	0.03876	0.655000	0.94253	CGT		0.582	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		122	539	0	0	0	1	0	122	539				
TPSD1	23430	broad.mit.edu	37	16	1306840	1306840	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1306840G>A	ENST00000211076.3	+	3	445	c.297G>A	c.(295-297)gaG>gaA	p.E99E	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.E92E	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	99	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AACTGCGGGAGCAGCACCTCT	0.667																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(295-297)gaG>gaA		tryptase delta 1							48.0	53.0	51.0					16																	1306840		2199	4300	6499	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306840G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.297G>A	16.37:g.1306840G>A						TPSD1_ENST00000397534.2_Silent_p.E92E	p.E99E	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			3	445	+		Hepatocellular(780;0.00369)	99			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.297G>A	CCDS10432.1																																																																																				0.667	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			42	162	0	0	0	1	0	42	162				
GTF3C1	2975	broad.mit.edu	37	16	27500951	27500951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27500951G>A	ENST00000356183.4	-	20	3280	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1089					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGCACTTGCGCTCCAGGTTG	0.667																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3265-3267)Cgc>Tgc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							120.0	69.0	87.0					16																	27500951		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27500951G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3265C>T	16.37:g.27500951G>A	ENSP00000348510:p.Arg1089Cys					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	p.R1089C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			20	3280	-			1089					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3265C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552817	0.86127	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26373	1.74	5.05	5.05	0.67936	.	0.257040	0.39475	N	0.001348	T	0.49474	0.1559	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	P;D	0.65874	0.8;0.939	T	0.52852	-0.8520	10	0.72032	D	0.01	.	16.2195	0.82251	0.0:0.0:1.0:0.0	.	1089;1089	Q12789;Q12789-3	TF3C1_HUMAN;.	C	1089;1087	ENSP00000348510:R1089C	ENSP00000348510:R1089C	R	-	1	0	GTF3C1	27408452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.005000	0.57075	2.351000	0.79841	0.655000	0.94253	CGC		0.667	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		20	84	0	0	0	1	0	20	84				
ZNF274	10782	broad.mit.edu	37	19	58718468	58718468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58718468G>A	ENST00000326804.4	+	6	1095	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L180L|ZNF274_ENST00000424679.2_Silent_p.L107L	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	213	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.			A -> T (in Ref. 2; AAG24390). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TAGGTGCACTGCCTGTGAAGC	0.602																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(634-636)ctG>ctA		zinc finger protein 274							30.0	32.0	31.0					19																	58718468		2203	4300	6503	SO:0001819	synonymous_variant	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58718468G>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.636G>A	19.37:g.58718468G>A						ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Silent_p.L107L|ZNF274_ENST00000345813.3_Silent_p.L180L	p.L212L	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	6	1095	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	213	A -> T (in Ref. 2; AAG24390).		SCAN box.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37	c.636G>A																																																																																					0.602	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		17	95	0	0	0	1	0	17	95				
SIGIRR	59307	broad.mit.edu	37	11	405971	405971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:405971G>A	ENST00000431843.2	-	10	1464	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	SIGIRR_ENST00000382520.2_Missense_Mutation_p.R483C|SIGIRR_ENST00000397632.3_Silent_p.D386D|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000332725.3_Silent_p.D386D|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R483C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	386					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATCCGAGACGTCCACTTCGC	0.617																																						ENST00000382520.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1447-1449)Cgt>Tgt		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							51.0	42.0	45.0					11																	405971		2200	4293	6493	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:405971G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1158C>T	11.37:g.405971G>A						SIGIRR_ENST00000397632.3_Silent_p.D386D|SIGIRR_ENST00000431843.2_Silent_p.D386D|SIGIRR_ENST00000332725.3_Silent_p.D386D|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R483C	p.R483C			Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1631	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	0					Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.1447C>T	CCDS31325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.29|15.29	2.788298|2.788298	0.49997|0.49997	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000531205;ENST00000382520|ENST00000526395	T;T|.	0.04317|.	3.65;3.65|.	3.54|3.54	-0.934|-0.934	0.10428|0.10428	.|.	.|.	.|.	.|.	.|.	T|T	0.31888|0.31888	0.0811|0.0811	.|.	.|.	.|.	0.29424|0.29424	N|N	0.860311|0.860311	B|.	0.12630|.	0.006|.	B|.	0.04013|.	0.001|.	T|T	0.36915|0.36915	-0.9728|-0.9728	8|4	0.87932|.	D|.	0|.	.|.	7.8452|7.8452	0.29421|0.29421	0.4184:0.0:0.5816:0.0|0.4184:0.0:0.5816:0.0	.|.	483|.	C9JFX4|.	.|.	C|M	483|118	ENSP00000433022:R483C;ENSP00000371960:R483C|.	ENSP00000371960:R483C|.	R|T	-|-	1|2	0|0	SIGIRR|SIGIRR	395971|395971	0.004000|0.004000	0.15560|0.15560	0.936000|0.936000	0.37596|0.37596	0.969000|0.969000	0.65631|0.65631	0.104000|0.104000	0.15313|0.15313	-0.138000|-0.138000	0.11434|0.11434	0.491000|0.491000	0.48974|0.48974	CGT|ACG		0.617	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		20	88	0	0	0	1	0	20	88				
SLC35E1	79939	broad.mit.edu	37	19	16677435	16677435	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16677435G>A	ENST00000595753.1	-	4	681	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CTD-3222D19.10_ENST00000597851.1_RNA|CTD-3222D19.2_ENST00000409035.1_Silent_p.G415G|SLC35E1_ENST00000431408.1_Silent_p.L66L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	222					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						ATGTTGAGCAGCCGGAGATGG	0.537																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(664-666)Ctg>Ttg		solute carrier family 35, member E1							92.0	89.0	90.0					19																	16677435		2203	4300	6503	SO:0001819	synonymous_variant	79939				transport	integral to membrane		g.chr19:16677435G>A	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.664C>T	19.37:g.16677435G>A						SLC35E1_ENST00000431408.1_Silent_p.L66L|CTD-3222D19.2_ENST00000409035.1_Silent_p.G415G	p.L222L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			4	681	-			222					Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	c.664C>T	CCDS12346.2																																																																																				0.537	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		70	315	0	0	0	1	0	70	315				
KRTAP5-6	440023	broad.mit.edu	37	11	1718508	1718508	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718508C>T	ENST00000382160.1	+	1	84	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	11						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAGGCTGTGGCTCCGGCTGTG	0.647																																						ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(31-33)ggC>ggT		keratin associated protein 5-6							63.0	82.0	75.0					11																	1718508		2202	4296	6498	SO:0001819	synonymous_variant	440023					keratin filament		g.chr11:1718508C>T	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.33C>T	11.37:g.1718508C>T							p.G11G	NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	84	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	11					A1L452	Silent	SNP	ENST00000382160.1	37	c.33C>T	CCDS31332.1																																																																																				0.647	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			17	1162	0	0	0	1	0	17	1162				
DGCR6	8214	broad.mit.edu	37	22	18898435	18898435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898435C>T	ENST00000331444.6	+	4	559	c.407C>T	c.(406-408)gCg>gTg	p.A136V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	136					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GAGCAGCGGGCGATGGACCAG	0.677																																						ENST00000331444.6																			0				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						c.(406-408)gCg>gTg		DiGeorge syndrome critical region gene 6							84.0	69.0	74.0					22																	18898435		2203	4298	6501	SO:0001583	missense	8214				cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix		g.chr22:18898435C>T	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.407C>T	22.37:g.18898435C>T	ENSP00000331681:p.Ala136Val					DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	p.A136V	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN			4	559	+			136					B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	c.407C>T	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111898	0.37242	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.30182	1.54	4.84	3.8	0.43715	.	0.137408	0.64402	D	0.000006	T	0.18718	0.0449	L	0.34521	1.04	0.22066	N	0.999382	P	0.38767	0.646	B	0.31495	0.131	T	0.20371	-1.0277	10	0.56958	D	0.05	-12.7504	8.0617	0.30638	0.0:0.8115:0.0:0.1885	.	136	Q14129	DGCR6_HUMAN	V	136;56	ENSP00000331681:A136V	ENSP00000331681:A136V	A	+	2	0	DGCR6	17278435	0.300000	0.24435	0.838000	0.33150	0.545000	0.35147	2.182000	0.42556	2.421000	0.82119	0.430000	0.28490	GCG		0.677	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675		43	200	0	0	0	1	0	43	200				
SLC5A2	6524	broad.mit.edu	37	16	31501753	31501753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31501753G>A	ENST00000330498.3	+	14	1935	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q	C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR|AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000570164.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	639					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCAGCCAGGCGGCTGGAGGAC	0.647																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1915-1917)cGg>cAg		solute carrier family 5 (sodium/glucose cotransporter), member 2							33.0	35.0	34.0					16																	31501753		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31501753G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1916G>A	16.37:g.31501753G>A	ENSP00000327943:p.Arg639Gln					SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR	p.R639Q	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			14	1935	+			639					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1916G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768689	0.49680	.	.	ENSG00000140675	ENST00000330498	D	0.92647	-3.08	5.39	-2.0	0.07433	.	0.715087	0.13852	N	0.358262	D	0.84750	0.5541	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.69339	-0.5171	10	0.25106	T	0.35	.	9.7626	0.40541	0.7106:0.0:0.2894:0.0	.	639	P31639	SC5A2_HUMAN	Q	639	ENSP00000327943:R639Q	ENSP00000327943:R639Q	R	+	2	0	SLC5A2	31409254	0.000000	0.05858	0.991000	0.47740	0.781000	0.44180	-0.391000	0.07323	-0.193000	0.10415	-0.254000	0.11334	CGG		0.647	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			39	112	0	0	0	1	0	39	112				
ZKSCAN8	7745	broad.mit.edu	37	6	28120057	28120057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28120057G>T	ENST00000330236.6	+	5	854	c.670G>T	c.(670-672)Gac>Tac	p.D224Y	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.D224Y	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	224	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAAGATTGAAGACATGGCTGT	0.443																																						ENST00000330236.6																			0											c.(670-672)Gac>Tac		zinc finger with KRAB and SCAN domains 8							134.0	134.0	134.0					6																	28120057		2203	4300	6503	SO:0001583	missense	0							g.chr6:28120057G>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.670G>T	6.37:g.28120057G>T	ENSP00000332750:p.Asp224Tyr					ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.D224Y	p.D224Y	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					5	854	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.670G>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180298	0.78677	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.12039	2.72;2.72	5.32	5.32	0.75619	Krueppel-associated box (4);	0.000000	0.64402	D	0.000011	T	0.49541	0.1563	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.67154	-0.5742	10	0.72032	D	0.01	.	18.644	0.91405	0.0:0.0:1.0:0.0	.	224	Q15776	ZN192_HUMAN	Y	224	ENSP00000332750:D224Y;ENSP00000402948:D224Y	ENSP00000332750:D224Y	D	+	1	0	ZNF192	28228036	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.218000	0.72224	2.873000	0.98535	0.563000	0.77884	GAC		0.443	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			51	433	1	0	2.0833e-19	1	2.32388e-19	51	433				
ZNF573	126231	broad.mit.edu	37	19	38229999	38229999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229999G>A	ENST00000590414.2	-	4	1413	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	ZNF573_ENST00000392138.1_Silent_p.H377H|ZNF573_ENST00000357309.3_Silent_p.H376H|ZNF573_ENST00000536220.1_Silent_p.H376H|ZNF573_ENST00000339503.4_Silent_p.H406H			Q86YE8	ZN573_HUMAN	zinc finger protein 573	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTTACCAGTGTGAATATTCT	0.358																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1216-1218)caC>caT		zinc finger protein 573							75.0	77.0	76.0					19																	38229999		2203	4300	6503	SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229999G>A	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1392C>T	19.37:g.38229999G>A						ZNF573_ENST00000357309.3_Silent_p.H376H|ZNF573_ENST00000392138.1_Silent_p.H377H|ZNF573_ENST00000590414.2_Silent_p.H464H|ZNF573_ENST00000536220.1_Silent_p.H376H	p.H406H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1719	-			444					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.1218C>T	CCDS59381.1																																																																																				0.358	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		94	424	0	0	0	1	0	94	424				
POLE	5426	broad.mit.edu	37	12	133220118	133220118	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133220118T>C	ENST00000320574.5	-	34	4362	c.4319A>G	c.(4318-4320)cAc>cGc	p.H1440R	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.H1413R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1440					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ACAGCCCAGGTGCACCAGGGC	0.607								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4318-4320)cAc>cGc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							141.0	133.0	136.0					12																	133220118		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220118T>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4319A>G	12.37:g.133220118T>C	ENSP00000322570:p.His1440Arg					POLE_ENST00000535270.1_Missense_Mutation_p.H1413R	p.H1440R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4362	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1440					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4319A>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997892	0.35226	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.16324	2.35;2.35;2.35	5.87	4.74	0.60224	.	0.387057	0.31936	N	0.006830	T	0.07954	0.0199	N	0.05199	-0.095	0.25251	N	0.989672	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	10	0.48119	T	0.1	.	6.5082	0.22206	0.1376:0.0728:0.0:0.7895	.	1413;1440	F5H1D6;Q07864	.;DPOE1_HUMAN	R	1440;1451;1413	ENSP00000322570:H1440R;ENSP00000406383:H1451R;ENSP00000445753:H1413R	ENSP00000322570:H1440R	H	-	2	0	POLE	131730191	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.734000	0.47368	1.087000	0.41251	0.524000	0.50904	CAC		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		176	865	0	0	0	1	0	176	865				
TINAG	27283	broad.mit.edu	37	6	54173411	54173411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173411G>A	ENST00000259782.4	+	1	159	c.63G>A	c.(61-63)aaG>aaA	p.K21K	TINAG_ENST00000370869.3_Silent_p.K17K|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Silent_p.K3K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	21					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGATGGAGAAGCAGTATTTAT	0.403																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(61-63)aaG>aaA		tubulointerstitial nephritis antigen							76.0	73.0	74.0					6																	54173411		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173411G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.63G>A	6.37:g.54173411G>A						TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Silent_p.K3K|TINAG_ENST00000370869.3_Silent_p.K17K	p.K21K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	159	+	Lung NSC(77;0.0518)		21					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.63G>A	CCDS4955.1																																																																																				0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		55	336	0	0	0	1	0	55	336				
C1QC	714	broad.mit.edu	37	1	22973781	22973781	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973781C>T	ENST00000374639.3	+	3	361	c.243C>T	c.(241-243)ccC>ccT	p.P81P	C1QC_ENST00000374640.4_Silent_p.P81P|C1QC_ENST00000374637.1_Silent_p.P81P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	81	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P81P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCGGCTTACCCGGCCATCCTG	0.632																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			1	Substitution - coding silent(1)	p.P81P(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(241-243)ccC>ccT		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						31.0	36.0	34.0					1																	22973781		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973781C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.243C>T	1.37:g.22973781C>T						C1QC_ENST00000374640.4_Silent_p.P81P|C1QC_ENST00000374637.1_Silent_p.P81P	p.P81P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	361	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	81			Collagen-like.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.243C>T	CCDS227.1																																																																																				0.632	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		26	288	0	0	0	1	0	26	288				
RREB1	6239	broad.mit.edu	37	6	7229595	7229595	+	Silent	SNP	C	C	T	rs140980354		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229595C>T	ENST00000349384.6	+	10	1577	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	RREB1_ENST00000334984.6_Silent_p.G421G|RREB1_ENST00000379938.2_Silent_p.G421G|RREB1_ENST00000379933.3_Silent_p.G421G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	421					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCCCTAGGCGGTTCTCTCA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18614	0.0		0.001	False		,,,				2504	0.0					ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1261-1263)ggC>ggT		ras responsive element binding protein 1		C	,,,	1,4405	2.1+/-5.4	0,1,2202	57.0	52.0	53.0		1263,1263,1263,1263	-1.4	0.1	6	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,	421/1688,421/1743,421/1477,421/1688	7229595	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229595C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1263C>T	6.37:g.7229595C>T						RREB1_ENST00000349384.6_Silent_p.G421G|RREB1_ENST00000379933.3_Silent_p.G421G|RREB1_ENST00000334984.6_Silent_p.G421G	p.G421G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1800	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	421					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1263C>T	CCDS34336.1																																																																																				0.577	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			66	260	0	0	0	1	0	66	260				
TNC	3371	broad.mit.edu	37	9	117826947	117826947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826947G>A	ENST00000350763.4	-	11	3877	c.3466C>T	c.(3466-3468)Ctc>Ttc	p.L1156F	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1156	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGCAGAGAGCACTGGTGTT	0.512																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(3466-3468)Ctc>Ttc		tenascin C							170.0	178.0	175.0					9																	117826947		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826947G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3466C>T	9.37:g.117826947G>A	ENSP00000265131:p.Leu1156Phe					TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000542877.1_Intron	p.L1156F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			11	3877	-			1156			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3466C>T	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.728820|3.728820	0.69074|0.69074	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000350763;ENST00000341037;ENST00000423613	.|T;T;T	.|0.05081	.|3.5;3.5;3.5	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.30603|0.30603	0.0770|0.0770	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.957;0.998	.|P;D	.|0.70487	.|0.771;0.969	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.72032	.|D	.|0.01	.|.	19.1513|19.1513	0.93491|0.93491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1156;1156	.|E9PC84;P24821	.|.;TENA_HUMAN	V|F	82|1156	.|ENSP00000265131:L1156F;ENSP00000339553:L1156F;ENSP00000411406:L1156F	.|ENSP00000339553:L1156F	A|L	-|-	2|1	0|0	TNC|TNC	116866768|116866768	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	4.647000|4.647000	0.61418|0.61418	2.539000|2.539000	0.85634|0.85634	0.557000|0.557000	0.71058|0.71058	GCT|CTC		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		181	1023	0	0	0	1	0	181	1023				
C11orf30	56946	broad.mit.edu	37	11	76169327	76169327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76169327G>A	ENST00000529032.1	+	4	346	c.346G>A	c.(346-348)Gct>Act	p.A116T	C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A130T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	116	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TACTGTAACAGCTAATGCTGT	0.473																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(346-348)Gct>Act		chromosome 11 open reading frame 30							107.0	104.0	105.0					11																	76169327		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76169327G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.346G>A	11.37:g.76169327G>A	ENSP00000432327:p.Ala116Thr					C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A130T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T	p.A116T			Q7Z589	EMSY_HUMAN			4	346	+			116			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.346G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728817	0.89390	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.993;0.993;0.993;0.999;1.0;1.0;0.997;1.0;0.997	D;D;D;D;D;D;D;D;D	0.91635	0.984;0.984;0.984;0.997;0.999;0.998;0.99;0.998;0.971	T	0.78753	-0.2081	9	0.56958	D	0.05	-9.4108	20.1133	0.97917	0.0:0.0:1.0:0.0	.	130;130;130;116;116;116;116;116;116	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	T	116;116;116;116;130;130;116;130;116	.	ENSP00000334130:A116T	A	+	1	0	C11orf30	75846975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.762000	0.94881	0.591000	0.81541	GCT		0.473	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		71	334	0	0	0	1	0	71	334				
DNAH1	25981	broad.mit.edu	37	3	52357823	52357823	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357823G>A	ENST00000420323.2	+	3	594		c.e3-1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTGGTTTCAGGAGGTATGTC	0.622																																						ENST00000420323.2																			1	Unknown(1)	p.?(1)	ovary(1)	cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e3-1		dynein, axonemal, heavy chain 1							48.0	49.0	49.0					3																	52357823		1916	4132	6048	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52357823G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.334-1G>A	3.37:g.52357823G>A								NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	594	+								B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37		CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633947	0.29068	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1855	0.86866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52332863	1.000000	0.71417	0.960000	0.40013	0.038000	0.13279	5.952000	0.70282	2.650000	0.89964	0.655000	0.94253	.		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Intron	6	31	0	0	0	1	0	6	31				
CNPY1	285888	broad.mit.edu	37	7	155301652	155301652	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155301652T>G	ENST00000321736.5	-	2	243	c.81A>C	c.(79-81)aaA>aaC	p.K27N	CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	27										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTGGTATATTTTGTCTCCTT	0.393																																						ENST00000321736.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(79-81)aaA>aaC		canopy FGF signaling regulator 1							75.0	73.0	74.0					7																	155301652		1802	4071	5873	SO:0001583	missense	285888							g.chr7:155301652T>G		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.81A>C	7.37:g.155301652T>G	ENSP00000317439:p.Lys27Asn					CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N	p.K27N	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	243	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	27					A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	c.81A>C	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501138	0.26861	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.35421	1.31;1.31	4.85	-0.421	0.12332	.	0.372425	0.28332	N	0.015735	T	0.20455	0.0492	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.34722	0.188	T	0.12708	-1.0537	9	0.29301	T	0.29	-2.7614	0.481	0.00547	0.2498:0.1441:0.2583:0.3478	.	27	Q3B7I2	CNPY1_HUMAN	N	27	ENSP00000384514:K27N;ENSP00000317439:K27N	ENSP00000317439:K27N	K	-	3	2	CNPY1	154994413	0.271000	0.24162	0.204000	0.23530	0.583000	0.36354	0.016000	0.13377	-0.336000	0.08438	0.455000	0.32223	AAA		0.393	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537		82	325	0	0	0	1	0	82	325				
NTNG2	84628	broad.mit.edu	37	9	135073579	135073579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073579C>T	ENST00000393229.3	+	3	1216	c.440C>T	c.(439-441)aCg>aTg	p.T147M	NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M|NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	147	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.T147M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGCCGGCCCACGGTCATGGTC	0.642																																						ENST00000393229.3																			1	Substitution - Missense(1)	p.T147M(1)	endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(439-441)aCg>aTg		netrin G2							70.0	53.0	59.0					9																	135073579		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073579C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.440C>T	9.37:g.135073579C>T	ENSP00000376921:p.Thr147Met					NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M	p.T147M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1216	+			147			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.440C>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118965	0.77323	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;0.94;0.94;-0.97	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.062591	0.64402	D	0.000010	D	0.84424	0.5469	L	0.56769	1.78	0.49299	D	0.999778	D	0.89917	1.0	D	0.91635	0.999	D	0.85845	0.1400	10	0.72032	D	0.01	.	17.7699	0.88489	0.0:1.0:0.0:0.0	.	147	Q96CW9	NTNG2_HUMAN	M	147	ENSP00000376921:T147M;ENSP00000376920:T147M;ENSP00000353888:T147M;ENSP00000361252:T147M	ENSP00000353888:T147M	T	+	2	0	NTNG2	134063400	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.757000	0.62213	2.417000	0.82017	0.561000	0.74099	ACG		0.642	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		50	247	0	0	0	1	0	50	247				
WIZ	58525	broad.mit.edu	37	19	15558986	15558986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15558986G>A	ENST00000389282.4	-	2	346	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Missense_Mutation_p.R45W			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	45					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CGGGTGGACCGGAAGATGCCA	0.647																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(133-135)Cgg>Tgg		widely interspaced zinc finger motifs							64.0	72.0	69.0					19																	15558986		1980	4136	6116	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15558986G>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.133C>T	19.37:g.15558986G>A	ENSP00000373933:p.Arg45Trp					WIZ_ENST00000263381.6_Missense_Mutation_p.R45W	p.R45W			O95785	WIZ_HUMAN			2	346	-			45					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.133C>T		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691988	0.48097	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.03635	3.86	3.67	3.67	0.42095	.	.	.	.	.	T	0.03011	0.0089	.	.	.	0.80722	D	1	P	0.47350	0.894	B	0.31686	0.134	T	0.54569	-0.8274	8	0.62326	D	0.03	-5.3586	11.0863	0.48089	0.0:0.0:1.0:0.0	.	45	O95785-2	.	W	45	ENSP00000373933:R45W	ENSP00000263381:R45W	R	-	1	2	WIZ	15419986	0.986000	0.35501	0.974000	0.42286	0.738000	0.42128	2.482000	0.45224	2.043000	0.60533	0.561000	0.74099	CGG		0.647	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		103	461	0	0	0	1	0	103	461				
CYP46A1	10858	broad.mit.edu	37	14	100158175	100158175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100158175G>A	ENST00000261835.3	+	3	363	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	87					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTCAGTCATCGTCACGAGTCC	0.532																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(259-261)Gtc>Atc		cytochrome P450, family 46, subfamily A, polypeptide 1							181.0	156.0	164.0					14																	100158175		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100158175G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.259G>A	14.37:g.100158175G>A	ENSP00000261835:p.Val87Ile					RP11-543C4.3_ENST00000555875.1_lincRNA|CYP46A1_ENST00000423126.2_5'UTR	p.V87I	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN			3	363	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	87					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.259G>A	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.791|7.791	0.711580|0.711580	0.15306|0.15306	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.68181	.|-0.31	4.32|4.32	-0.929|-0.929	0.10444|0.10444	.|.	.|0.288191	.|0.32401	.|N	.|0.006142	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.12837	.|0.008	T|T	0.17715|0.17715	-1.0360|-1.0360	5|10	.|0.09843	.|T	.|0.71	.|.	8.9458|8.9458	0.35758|0.35758	0.5097:0.0:0.4903:0.0|0.5097:0.0:0.4903:0.0	.|.	.|87	.|Q9Y6A2	.|CP46A_HUMAN	H|I	73|87	.|ENSP00000261835:V87I	.|ENSP00000261835:V87I	R|V	+|+	2|1	0|0	CYP46A1|CYP46A1	99227928|99227928	0.013000|0.013000	0.17824|0.17824	0.987000|0.987000	0.45799|0.45799	0.403000|0.403000	0.30841|0.30841	-0.464000|-0.464000	0.06688|0.06688	-0.298000|-0.298000	0.08921|0.08921	-1.119000|-1.119000	0.02030|0.02030	CGT|GTC		0.532	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			64	270	0	0	0	1	0	64	270				
TFIP11	24144	broad.mit.edu	37	22	26888122	26888122	+	Missense_Mutation	SNP	C	C	T	rs574318611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26888122C>T	ENST00000407690.1	-	15	2654	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I	TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	791					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TTCCCAATGACGGGCATGAAG	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23169	0.0		0.0	False		,,,				2504	0.0					ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(2371-2373)Gtc>Atc		tuftelin interacting protein 11							129.0	89.0	103.0					22																	26888122		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26888122C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2371G>A	22.37:g.26888122C>T	ENSP00000384421:p.Val791Ile					TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I	p.V791I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			15	2654	-			791					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.2371G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	1.865	-0.461641	0.04508	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.39	4.38	0.52667	.	0.319967	0.34986	N	0.003532	T	0.19127	0.0459	N	0.03154	-0.405	0.36149	D	0.8473	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.12426	-1.0548	10	0.28530	T	0.3	-46.7661	9.261	0.37612	0.0:0.7793:0.1446:0.0761	.	791;150	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	I	791;791;791;476;791	ENSP00000384421:V791I;ENSP00000383892:V791I;ENSP00000385861:V791I;ENSP00000384297:V791I	ENSP00000384297:V791I	V	-	1	0	TFIP11	25218122	0.151000	0.22747	0.899000	0.35326	0.894000	0.52154	0.442000	0.21628	1.515000	0.48885	-0.137000	0.14449	GTC		0.562	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		55	223	0	0	0	1	0	55	223				
KIAA0556	23247	broad.mit.edu	37	16	27751850	27751850	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27751850C>A	ENST00000261588.4	+	15	2251	c.2232C>A	c.(2230-2232)atC>atA	p.I744I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	744						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCAGAAAAATCTGTGAGCCAC	0.572																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2230-2232)atC>atA		KIAA0556							70.0	69.0	69.0					16																	27751850		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27751850C>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2232C>A	16.37:g.27751850C>A							p.I744I	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	2251	+			744					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.2232C>A	CCDS32415.1																																																																																				0.572	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		139	481	1	0	3.43777e-51	1	4.26453e-51	139	481				
ENPP2	5168	broad.mit.edu	37	8	120575129	120575129	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120575129G>A	ENST00000075322.6	-	24	2447	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	ENPP2_ENST00000427067.2_Missense_Mutation_p.P818S|ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S|ENPP2_ENST00000522167.1_Missense_Mutation_p.P432S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	797					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGCCGGTGAGGCAGGATGAAG	0.483																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2452-2454)Cct>Tct		ectonucleotide pyrophosphatase/phosphodiesterase 2							127.0	109.0	115.0					8																	120575129		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575129G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2389C>T	8.37:g.120575129G>A	ENSP00000075322:p.Pro797Ser					ENPP2_ENST00000075322.6_Missense_Mutation_p.P797S|ENPP2_ENST00000522167.1_Missense_Mutation_p.P432S|ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S	p.P818S			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2632	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		797					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2452C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592355	0.86953	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.8	4.93	0.64822	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.997;1.0	D;D;D;D;D	0.78314	0.991;0.965;0.982;0.967;0.99	T	0.73852	-0.3852	10	0.87932	D	0	.	14.6138	0.68534	0.0694:0.0:0.9306:0.0	.	335;822;797;849;432	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	S	849;818;432;822;797	ENSP00000259486:P849S;ENSP00000403315:P818S;ENSP00000429476:P432S;ENSP00000428291:P822S;ENSP00000075322:P797S	ENSP00000075322:P797S	P	-	1	0	ENPP2	120644310	1.000000	0.71417	0.932000	0.37286	0.906000	0.53458	9.750000	0.98875	1.451000	0.47736	0.650000	0.86243	CCT		0.483	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			47	235	0	0	0	1	0	47	235				
MIR193BHG	100129781	broad.mit.edu	37	16	14403174	14403174	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14403174G>A	ENST00000570945.1	+	0	310				MIR365A_ENST00000362260.1_RNA																							TTTGGGGGCAGATGTGTTTCC	0.483																																						ENST00000570945.1																			0																				59.0	56.0	57.0					16																	14403174		1568	3582	5150			0							g.chr16:14403174G>A																													16.37:g.14403174G>A						MIR365A_ENST00000362260.1_RNA								0	310	+									RNA	SNP	ENST00000570945.1	37																																																																																						0.483	RP11-65J21.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436878.1			22	146	0	0	0	1	0	22	146				
HEATR3	55027	broad.mit.edu	37	16	50106618	50106618	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50106618T>G	ENST00000299192.7	+	5	806	c.615T>G	c.(613-615)atT>atG	p.I205M	HEATR3_ENST00000285767.4_Missense_Mutation_p.I119M	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	205										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACCTGGCTATTTCAGTAGGTA	0.358																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(613-615)atT>atG		HEAT repeat containing 3							174.0	161.0	165.0					16																	50106618		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50106618T>G	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.615T>G	16.37:g.50106618T>G	ENSP00000299192:p.Ile205Met					HEATR3_ENST00000285767.4_Missense_Mutation_p.I119M	p.I205M	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			5	806	+			205					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.615T>G	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428511	0.43122	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.39406	1.08;1.08	5.65	3.38	0.38709	Armadillo-like helical (1);Armadillo-type fold (1);	0.142732	0.64402	D	0.000012	T	0.53174	0.1780	M	0.74258	2.255	0.39974	D	0.974838	P;P	0.46512	0.879;0.624	P;B	0.53593	0.73;0.4	T	0.53872	-0.8377	10	0.51188	T	0.08	.	8.7871	0.34827	0.0:0.1608:0.0:0.8392	.	119;205	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	M	119;205	ENSP00000285767:I119M;ENSP00000299192:I205M	ENSP00000285767:I119M	I	+	3	3	HEATR3	48664119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.779000	0.26746	0.508000	0.28173	0.533000	0.62120	ATT		0.358	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		11	291	0	0	0	1	0	11	291				
OR8H2	390151	broad.mit.edu	37	11	55873329	55873329	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55873329G>T	ENST00000313503.1	+	1	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTGGGAAGAGATCAAGTGGC	0.363										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(811-813)Gat>Tat		olfactory receptor, family 8, subfamily H, member 2							83.0	87.0	86.0					11																	55873329		2201	4295	6496	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873329G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.811G>T	11.37:g.55873329G>T	ENSP00000323982:p.Asp271Tyr	HNSCC(53;0.14)					p.D271Y	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	811	+	Esophageal squamous(21;0.00693)		271					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.811G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	7.949	0.744428	0.15710	.	.	ENSG00000181767	ENST00000313503	T	0.00256	8.42	3.58	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.00384	0.0012	M	0.89715	3.055	0.09310	N	1	P	0.42409	0.779	P	0.48738	0.588	T	0.21930	-1.0231	10	0.87932	D	0	.	5.563	0.17154	0.174:0.0:0.6649:0.1611	.	271	Q8N162	OR8H2_HUMAN	Y	271	ENSP00000323982:D271Y	ENSP00000323982:D271Y	D	+	1	0	OR8H2	55629905	0.000000	0.05858	0.382000	0.26119	0.058000	0.15608	-0.479000	0.06567	0.788000	0.33755	0.440000	0.28878	GAT		0.363	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		101	411	1	0	1.74666e-38	1	2.10562e-38	101	411				
GPR125	166647	broad.mit.edu	37	4	22414965	22414965	+	Missense_Mutation	SNP	C	C	T	rs201944807		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414965C>T	ENST00000334304.5	-	14	2341	c.2072G>A	c.(2071-2073)cGt>cAt	p.R691H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	691					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGCAATTCGACGCAGTGTCAC	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18582	0.0		0.0	False		,,,				2504	0.0					ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2071-2073)cGt>cAt		G protein-coupled receptor 125		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	109.0	105.0	106.0		2072	5.9	1.0	4		106	3,8597	3.0+/-9.4	0,3,4297	no	missense	GPR125	NM_145290.2	29	0,6,6497	TT,TC,CC		0.0349,0.0681,0.0461	probably-damaging	691/1322	22414965	6,13000	2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414965C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2072G>A	4.37:g.22414965C>T	ENSP00000334952:p.Arg691His					GPR125_ENST00000282943.5_5'UTR	p.R691H	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2341	-		Breast(46;0.198)	691					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2072G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434147	0.96150	6.81E-4	3.49E-4	ENSG00000152990	ENST00000334304	T	0.58060	0.36	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75733	-0.3214	10	0.72032	D	0.01	-35.5869	20.1991	0.98252	0.0:1.0:0.0:0.0	.	548;691	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	691	ENSP00000334952:R691H	ENSP00000334952:R691H	R	-	2	0	GPR125	22024063	1.000000	0.71417	0.983000	0.44433	0.679000	0.39708	5.592000	0.67543	2.775000	0.95449	0.650000	0.86243	CGT		0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			90	453	0	0	0	1	0	90	453				
CDH2	1000	broad.mit.edu	37	18	25570308	25570308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25570308C>T	ENST00000269141.3	-	10	1774	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	451	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTCAAAGTCGATTGGCTGG	0.393																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1351-1353)Gac>Aac		cadherin 2, type 1, N-cadherin (neuronal)							55.0	56.0	56.0					18																	25570308		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570308C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1351G>A	18.37:g.25570308C>T	ENSP00000269141:p.Asp451Asn					CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	p.D451N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			10	1774	-			451			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1351G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178862	0.78564	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.63417	-0.04;-0.04	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81239	2.535	0.80722	D	1	D;D	0.65815	0.995;0.994	P;P	0.53401	0.725;0.642	T	0.77568	-0.2539	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	420;451	A8MWK3;P19022	.;CADH2_HUMAN	N	451;420	ENSP00000269141:D451N;ENSP00000382312:D420N	ENSP00000269141:D451N	D	-	1	0	CDH2	23824306	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAC		0.393	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		52	208	0	0	0	1	0	52	208				
COL5A1	1289	broad.mit.edu	37	9	137710721	137710721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137710721G>T	ENST00000371817.3	+	56	4780	c.4366G>T	c.(4366-4368)Ggc>Tgc	p.G1456C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1456	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGATCCCCAGGCCCGGACGG	0.632																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4366-4368)Ggc>Tgc		collagen, type V, alpha 1							51.0	50.0	50.0					9																	137710721		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137710721G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4366G>T	9.37:g.137710721G>T	ENSP00000360882:p.Gly1456Cys						p.G1456C	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	56	4780	+		Myeloproliferative disorder(178;0.0341)	1456			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4366G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870760	0.72065	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.99635	0.9866	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97268	0.9909	10	0.87932	D	0	.	17.6063	0.88039	0.0:0.0:1.0:0.0	.	1456	P20908	CO5A1_HUMAN	C	1456	ENSP00000360882:G1456C	ENSP00000360882:G1456C	G	+	1	0	COL5A1	136850542	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.732000	0.98816	2.150000	0.67090	0.448000	0.29417	GGC		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		47	253	1	0	2.69774e-35	1	3.21965e-35	47	253				
PREX1	57580	broad.mit.edu	37	20	47274755	47274755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47274755C>T	ENST00000371941.3	-	17	1915	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_ENST00000396220.1_Silent_p.Q631Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	631	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTCCTCCTCCTGGGGCAGGA	0.672											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1891-1893)caG>caA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							192.0	179.0	184.0					20																	47274755		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47274755C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1893G>A	20.37:g.47274755C>T			OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PREX1_ENST00000371941.3_Silent_p.Q631Q	p.Q631Q			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		17	1915	-			631			PDZ.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.1893G>A	CCDS13410.1																																																																																				0.672	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		350	1260	0	0	0	1	0	350	1260				
ZBED9	114821	broad.mit.edu	37	6	28542676	28542676	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542676G>T	ENST00000452236.2	-	3	2423	c.1806C>A	c.(1804-1806)tcC>tcA	p.S602S	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAACTACACAGGATAAAAATC	0.403																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1804-1806)tcC>tcA		SCAN domain containing 3							53.0	52.0	52.0					6																	28542676		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542676G>T																												ENST00000452236.2:c.1806C>A	6.37:g.28542676G>T							p.S602S	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	2423	-			602						Silent	SNP	ENST00000452236.2	37	c.1806C>A	CCDS34355.1																																																																																				0.403	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			41	150	1	0	9.73076e-26	1	1.11809e-25	41	150				
MEF2A	4205	broad.mit.edu	37	15	100211654	100211654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100211654G>T	ENST00000557785.1	+	5	734	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000557942.1_Missense_Mutation_p.G129C|MEF2A_ENST00000338042.6_Missense_Mutation_p.G129C|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	131					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTTCAAACGAGGCCCTGTAAG	0.388																																						ENST00000338042.6																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(385-387)Ggc>Tgc		myocyte enhancer factor 2A							175.0	159.0	163.0					15																	100211654		1568	3582	5150	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211654G>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.385G>T	15.37:g.100211654G>T	ENSP00000453441:p.Gly129Cys					MEF2A_ENST00000557942.1_Missense_Mutation_p.G129C|MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.G129C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C	p.G129C			Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	704	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		129					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.385G>T	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388376	0.61956	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.62941	-0.01;-0.01;-0.01	5.4	5.4	0.78164	.	.	.	.	.	T	0.53948	0.1828	N	0.01352	-0.895	0.34472	D	0.702941	D;D;B;P	0.62365	0.965;0.991;0.001;0.931	P;P;B;P	0.62298	0.855;0.9;0.004;0.671	T	0.71217	-0.4658	9	0.37606	T	0.19	.	19.5293	0.95222	0.0:0.0:1.0:0.0	.	61;50;129;129	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	C	129;129;61	ENSP00000404110:G129C;ENSP00000337202:G129C;ENSP00000399460:G61C	ENSP00000337202:G129C	G	+	1	0	MEF2A	98029177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.713000	0.68415	2.694000	0.91930	0.561000	0.74099	GGC		0.388	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			54	328	1	0	3.53049e-34	1	4.19639e-34	54	328				
C5orf42	65250	broad.mit.edu	37	5	37201716	37201716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37201716G>T	ENST00000508244.1	-	18	3577	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T|C5orf42_ENST00000274258.7_Missense_Mutation_p.P43T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1162						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTGGCTGGGGACAGTACAAT	0.353																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(127-129)Ccc>Acc		chromosome 5 open reading frame 42							87.0	89.0	89.0					5																	37201716		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37201716G>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3484C>A	5.37:g.37201716G>T	ENSP00000421690:p.Pro1162Thr					C5orf42_ENST00000508244.1_Missense_Mutation_p.P1162T|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T	p.P43T			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		19	3714	-	all_lung(31;0.000616)		1162					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.127C>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675047	0.88445	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.78003	-0.98;-0.98;-1.14;-1.12	5.48	4.6	0.57074	.	0.165071	0.29185	N	0.012897	T	0.81211	0.4775	L	0.29908	0.895	0.46654	D	0.999146	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.973	D	0.83379	0.0011	10	0.87932	D	0	.	14.1668	0.65483	0.0724:0.0:0.9276:0.0	.	1162;43	E9PH94;Q9H799	.;CE042_HUMAN	T	1162;1162;43;210;43	ENSP00000421690:P1162T;ENSP00000389014:P1162T;ENSP00000274258:P43T;ENSP00000424223:P210T	ENSP00000274258:P43T	P	-	1	0	C5orf42	37237473	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.992000	0.93519	1.315000	0.45114	0.313000	0.20887	CCC		0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		75	356	1	0	2.93416e-43	1	3.58019e-43	75	356				
ZNF234	10780	broad.mit.edu	37	19	44661008	44661008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44661008G>T	ENST00000426739.2	+	6	1097	c.839G>T	c.(838-840)aGa>aTa	p.R280I	ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAACATCAGAGAATTCATACT	0.418																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(838-840)aGa>aTa		zinc finger protein 234							127.0	135.0	132.0					19																	44661008		2197	4299	6496	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661008G>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.839G>T	19.37:g.44661008G>T	ENSP00000400878:p.Arg280Ile					ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	p.R280I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1097	+		Prostate(69;0.0435)	280					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.839G>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867374	0.51588	.	.	ENSG00000167380	ENST00000426739	T	0.24908	1.83	3.98	-1.14	0.09741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29458	0.0734	L	0.48986	1.54	0.25986	N	0.982302	D	0.57899	0.981	P	0.54140	0.743	T	0.18241	-1.0343	9	0.42905	T	0.14	.	5.4562	0.16592	0.3579:0.1405:0.5016:0.0	.	280	Q14588	ZN234_HUMAN	I	280	ENSP00000400878:R280I	ENSP00000400878:R280I	R	+	2	0	ZNF226	49352848	0.000000	0.05858	0.260000	0.24451	0.991000	0.79684	-1.281000	0.02802	0.114000	0.18032	0.586000	0.80456	AGA		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			154	612	1	0	1.86983e-63	1	2.36032e-63	154	612				
CNTN1	1272	broad.mit.edu	37	12	41410595	41410595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41410595C>T	ENST00000551295.2	+	19	2413	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	766	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGATACTGGCCGATATGTCCA	0.403																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2296-2298)Cga>Tga		contactin 1							136.0	117.0	123.0					12																	41410595		2203	4300	6503	SO:0001587	stop_gained	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410595C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2296C>T	12.37:g.41410595C>T	ENSP00000447006:p.Arg766*					CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*|CNTN1_ENST00000550305.1_3'UTR	p.R766*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			19	2413	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	766			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Nonsense_Mutation	SNP	ENST00000551295.2	37	c.2296C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.832891	0.97003	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	.	.	.	5.35	-2.88	0.05682	.	0.113585	0.64402	D	0.000013	.	.	.	.	.	.	0.22911	N	0.998577	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8613	0.52467	0.5695:0.3721:0.0:0.0583	.	.	.	.	X	766;766;755	.	ENSP00000325660:R766X	R	+	1	2	CNTN1	39696862	0.819000	0.29175	0.027000	0.17364	0.453000	0.32348	1.290000	0.33319	-0.637000	0.05516	-0.262000	0.10625	CGA		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		84	360	0	0	0	1	0	84	360				
NEB	4703	broad.mit.edu	37	2	152364595	152364595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152364595G>A	ENST00000172853.10	-	134	18419	c.18272C>T	c.(18271-18273)tCc>tTc	p.S6091F	NEB_ENST00000603639.1_Missense_Mutation_p.S7792F|NEB_ENST00000509223.2_5'Flank|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000397345.3_Missense_Mutation_p.S7792F|NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000427231.2_Missense_Mutation_p.S7792F			P20929	NEBU_HUMAN	nebulin	6091					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATACGACATGGACTTCTCAGC	0.418																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(23374-23376)tCc>tTc		nebulin							131.0	112.0	118.0					2																	152364595		1848	4094	5942	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152364595G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18272C>T	2.37:g.152364595G>A	ENSP00000172853:p.Ser6091Phe					NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000603639.1_Missense_Mutation_p.S7792F|NEB_ENST00000172853.10_Missense_Mutation_p.S6091F|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000427231.2_Missense_Mutation_p.S7792F	p.S7792F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	162	23577	-			6091					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.23375C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178357|3.178357	0.57692|0.57692	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78	5.35|5.35	0.993|0.993	0.19825|0.19825	.|.	.|0.510406	.|0.20688	.|N	.|0.087515	T|T	0.50871|0.50871	0.1641|0.1641	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53462	.|0.708;0.96;0.915	.|P;P;P	.|0.54965	.|0.723;0.708;0.765	T|T	0.42292|0.42292	-0.9460|-0.9460	5|10	.|0.23302	.|T	.|0.38	.|.	13.8688|13.8688	0.63605|0.63605	0.0:0.4829:0.4177:0.0994|0.0:0.4829:0.4177:0.0994	.|.	.|6091;7792;2522	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	S|F	378|6091;7792;7792;2140;2522;6091	.|ENSP00000386259:S6091F;ENSP00000380505:S7792F;ENSP00000416578:S7792F;ENSP00000410961:S2522F;ENSP00000172853:S6091F	.|ENSP00000172853:S6091F	P|S	-|-	1|2	0|0	NEB|NEB	152072841|152072841	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.737000|1.737000	0.38197|0.38197	0.256000|0.256000	0.21614|0.21614	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	60	0	0	0	1	0	17	60				
LRBA	987	broad.mit.edu	37	4	151749384	151749384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151749384C>T	ENST00000357115.3	-	30	5362	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000535741.1_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1707						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCACCAAGGGCTCCAAGGCAG	0.453																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5119-5121)Gcc>Acc		LPS-responsive vesicle trafficking, beach and anchor containing							131.0	116.0	121.0					4																	151749384		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151749384C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5119G>A	4.37:g.151749384C>T	ENSP00000349629:p.Ala1707Thr					LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000357115.3_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T	p.A1707T			P50851	LRBA_HUMAN			30	5592	-	all_hematologic(180;0.151)		1707					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5119G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399829	0.25291	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56444	0.88;1.03;0.88;0.46	5.72	2.56	0.30785	.	0.684498	0.14058	N	0.344240	T	0.39226	0.1070	L	0.40543	1.245	0.18873	N	0.999989	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.23119	-1.0197	10	0.13470	T	0.59	.	9.7525	0.40483	0.0:0.7331:0.1203:0.1465	.	1707;1707	P50851;P50851-2	LRBA_HUMAN;.	T	1707	ENSP00000446299:A1707T;ENSP00000421552:A1707T;ENSP00000349629:A1707T;ENSP00000422180:A1707T	ENSP00000349629:A1707T	A	-	1	0	LRBA	151968834	0.207000	0.23482	0.992000	0.48379	0.947000	0.59692	0.518000	0.22847	0.743000	0.32719	0.484000	0.47621	GCC		0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			75	426	0	0	0	1	0	75	426				
CNTN3	5067	broad.mit.edu	37	3	74418390	74418390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418390G>T	ENST00000263665.6	-	7	923	c.896C>A	c.(895-897)gCt>gAt	p.A299D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	299	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGAATTCTCAGCAATGCATTC	0.428																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(895-897)gCt>gAt		contactin 3 (plasmacytoma associated)							75.0	71.0	72.0					3																	74418390		2203	4299	6502	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74418390G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.896C>A	3.37:g.74418390G>T	ENSP00000263665:p.Ala299Asp						p.A299D	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	7	923	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	299			Ig-like C2-type 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.896C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376990	0.82682	.	.	ENSG00000113805	ENST00000263665	T	0.76968	-1.06	5.05	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.059653	0.64402	D	0.000002	D	0.91831	0.7415	H	0.96861	3.895	0.50467	D	0.999876	D	0.89917	1.0	D	0.80764	0.994	D	0.94446	0.7663	10	0.87932	D	0	.	15.5641	0.76277	0.0:0.1382:0.8618:0.0	.	299	Q9P232	CNTN3_HUMAN	D	299	ENSP00000263665:A299D	ENSP00000263665:A299D	A	-	2	0	CNTN3	74501080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.000000	0.93564	1.117000	0.41842	0.591000	0.81541	GCT		0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		26	168	1	0	3.73808e-20	1	4.18385e-20	26	168				
DYNC1H1	1778	broad.mit.edu	37	14	102482234	102482234	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102482234G>A	ENST00000360184.4	+	36	7448	c.7284G>A	c.(7282-7284)acG>acA	p.T2428T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2428	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGTACTTCACGTCCAACGGCC	0.532																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7282-7284)acG>acA		dynein, cytoplasmic 1, heavy chain 1							102.0	82.0	89.0					14																	102482234		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482234G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7284G>A	14.37:g.102482234G>A							p.T2428T	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			36	7448	+			2428			AAA 2 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.7284G>A	CCDS9966.1																																																																																				0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		49	186	0	0	0	1	0	49	186				
THAP3	90326	broad.mit.edu	37	1	6693075	6693075	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6693075C>A	ENST00000054650.4	+	6	816	c.658C>A	c.(658-660)Ctc>Atc	p.L220I	DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.L219I	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	220							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTCCAGCCGCCTCCGTGCTTG	0.602																																						ENST00000054650.4																			0				breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(658-660)Ctc>Atc		THAP domain containing, apoptosis associated protein 3							20.0	21.0	20.0					1																	6693075		876	1991	2867	SO:0001583	missense	90326						DNA binding|metal ion binding	g.chr1:6693075C>A	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.658C>A	1.37:g.6693075C>A	ENSP00000054650:p.Leu220Ile					THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.L219I	p.L220I	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	816	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	220					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	37	c.658C>A	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329607	0.41297	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.96554	-4.05;-4.05	4.2	3.28	0.37604	.	4.768470	0.01191	N	0.007330	D	0.96568	0.8880	M	0.66939	2.045	0.21579	N	0.999637	D;P	0.54047	0.964;0.939	P;B	0.49597	0.616;0.412	D	0.86334	0.1700	10	0.54805	T	0.06	-21.1191	7.6954	0.28592	0.0:0.8842:0.0:0.1158	.	219;220	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	I	220;219	ENSP00000054650:L220I;ENSP00000311537:L219I	ENSP00000054650:L220I	L	+	1	0	THAP3	6615662	0.382000	0.25148	0.046000	0.18839	0.361000	0.29550	2.393000	0.44442	0.977000	0.38444	0.462000	0.41574	CTC		0.602	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		27	105	1	0	2.44723e-14	1	2.65813e-14	27	105				
IGDCC4	57722	broad.mit.edu	37	15	65694733	65694733	+	Missense_Mutation	SNP	C	C	T	rs371134708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65694733C>T	ENST00000352385.2	-	4	865	c.656G>A	c.(655-657)cGc>cAc	p.R219H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	219	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAAGTGCTGGCGAGCTGAGTT	0.622																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(655-657)cGc>cAc		immunoglobulin superfamily, DCC subclass, member 4		C	HIS/ARG	1,4391		0,1,2195	37.0	33.0	35.0		656	-0.6	0.0	15		35	0,8590		0,0,4295	no	missense	IGDCC4	NM_020962.1	29	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	benign	219/1251	65694733	1,12981	2196	4295	6491	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65694733C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.656G>A	15.37:g.65694733C>T	ENSP00000319623:p.Arg219His						p.R219H	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			4	865	-			219			Ig-like C2-type 2.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.656G>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	5.100	0.204122	0.09704	2.28E-4	0.0	ENSG00000103742	ENST00000352385	T	0.67171	-0.25	5.4	-0.629	0.11533	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.674300	0.15537	N	0.257185	T	0.43188	0.1236	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25502	-1.0130	10	0.33141	T	0.24	-1.3428	9.526	0.39165	0.0:0.4041:0.0:0.5959	.	219	Q8TDY8	IGDC4_HUMAN	H	219	ENSP00000319623:R219H	ENSP00000319623:R219H	R	-	2	0	IGDCC4	63481786	0.000000	0.05858	0.015000	0.15790	0.058000	0.15608	0.469000	0.22067	-0.005000	0.14395	-0.140000	0.14226	CGC		0.622	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		6	21	0	0	0	1	0	6	21				
C16orf70	80262	broad.mit.edu	37	16	67168323	67168323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67168323G>A	ENST00000219139.3	+	8	802	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GATGTTCTTCGAGATGGAACT	0.512																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(613-615)cGa>cAa		chromosome 16 open reading frame 70							282.0	260.0	267.0					16																	67168323		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67168323G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.614G>A	16.37:g.67168323G>A	ENSP00000219139:p.Arg205Gln					C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q	p.R205Q	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	8	802	+		Ovarian(137;0.192)	205					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.614G>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444686	0.63178	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.71036	2.16	0.58432	D	0.999999	P	0.50819	0.939	P	0.47891	0.56	T	0.65191	-0.6228	9	0.24483	T	0.36	-3.9249	19.0219	0.92919	0.0:0.0:1.0:0.0	.	205	Q9BSU1	CP070_HUMAN	Q	205	.	ENSP00000219139:R205Q	R	+	2	0	C16orf70	65725824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.835000	0.97688	0.650000	0.86243	CGA		0.512	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		277	1172	0	0	0	1	0	277	1172				
ZNF292	23036	broad.mit.edu	37	6	87968327	87968327	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968327G>A	ENST00000369577.3	+	8	5023	c.4980G>A	c.(4978-4980)aaG>aaA	p.K1660K	ZNF292_ENST00000339907.4_Silent_p.K1655K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1660						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCATAGCAAAGAGTGTTGAAA	0.363																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(4978-4980)aaG>aaA		zinc finger protein 292							38.0	38.0	38.0					6																	87968327		1910	4121	6031	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968327G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4980G>A	6.37:g.87968327G>A						ZNF292_ENST00000339907.4_Silent_p.K1655K	p.K1660K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5023	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1660					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.4980G>A	CCDS47457.1																																																																																				0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		24	110	0	0	0	1	0	24	110				
ZNF280D	54816	broad.mit.edu	37	15	56923986	56923986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56923986A>G	ENST00000267807.7	-	22	2866	c.2650T>C	c.(2650-2652)Ttg>Ctg	p.L884L	RP11-1129I3.1_ENST00000562300.1_RNA|ZNF280D_ENST00000559237.1_Silent_p.L871L	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	884					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAATCGCAAATCCTTAATA	0.348																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(2611-2613)Ttg>Ctg		zinc finger protein 280D							120.0	118.0	119.0					15																	56923986		2192	4292	6484	SO:0001819	synonymous_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56923986A>G	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2650T>C	15.37:g.56923986A>G						ZNF280D_ENST00000267807.7_Silent_p.L884L	p.L871L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	21	3294	-			884					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	c.2611T>C	CCDS32245.1																																																																																				0.348	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		67	322	0	0	0	1	0	67	322				
TCF3	6929	broad.mit.edu	37	19	1615357	1615357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615357C>A	ENST00000262965.5	-	18	2093	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGGGCTTCTCGCTGTTGA	0.642			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1747-1749)gaG>gaT		transcription factor 3							92.0	90.0	91.0					19																	1615357		2203	4300	6503	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615357C>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1749G>T	19.37:g.1615357C>A	ENSP00000262965:p.Glu583Asp					TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.E583D	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2093	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	583			Helix-loop-helix motif.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.1749G>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	3.049	-0.195757	0.06259	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.97959	-4.63;-4.63	4.32	1.97	0.26223	Helix-loop-helix DNA-binding (5);	0.233607	0.43110	N	0.000618	D	0.90553	0.7039	N	0.02685	-0.53	0.80722	D	1	B;P;B	0.40376	0.0;0.715;0.002	B;P;B	0.46685	0.003;0.524;0.027	D	0.87914	0.2699	10	0.02654	T	1	-14.8527	5.9245	0.19101	0.0:0.6186:0.0:0.3814	.	583;587;520	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	D	583;587	ENSP00000262965:E583D;ENSP00000378813:E587D	ENSP00000262965:E583D	E	-	3	2	TCF3	1566357	0.949000	0.32298	0.999000	0.59377	0.994000	0.84299	-0.017000	0.12590	0.777000	0.33496	0.555000	0.69702	GAG		0.642	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		23	572	1	0	5.26018e-13	1	5.6673e-13	23	572				
ELAC2	60528	broad.mit.edu	37	17	12903496	12903496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903496G>A	ENST00000338034.4	-	15	1639	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	467					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCCGTCCTGCGCACTCCTCCT	0.567																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1399-1401)gCg>gTg		elaC ribonuclease Z 2							53.0	51.0	52.0					17																	12903496		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12903496G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1400C>T	17.37:g.12903496G>A	ENSP00000337445:p.Ala467Val					ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	p.A467V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			15	1639	-			467					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1400C>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537678	0.27475	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.64618	0.29;-0.11;-0.11	5.0	-2.19	0.07015	.	1.307490	0.04695	N	0.414906	T	0.36908	0.0984	N	0.05230	-0.09	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.003;0.0;0.001;0.002;0.003;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.001;0.0;0.001;0.002	T	0.25916	-1.0118	10	0.09084	T	0.74	-0.8698	9.9441	0.41598	0.4499:0.0:0.5501:0.0	.	427;450;448;265;467;227;452;95	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	427;467;448;145	ENSP00000405223:A427V;ENSP00000337445:A467V;ENSP00000379291:A448V	ENSP00000337445:A467V	A	-	2	0	ELAC2	12844221	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.146000	0.03191	-0.586000	0.05898	-0.142000	0.14014	GCG		0.567	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			37	235	0	0	0	1	0	37	235				
PNISR	25957	broad.mit.edu	37	6	99853950	99853950	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99853950T>C	ENST00000369239.5	-	8	1163	c.959A>G	c.(958-960)cAc>cGc	p.H320R	PNISR_ENST00000438806.1_Missense_Mutation_p.H320R	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	320						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGGGTCACTGTGCTCTTCTTG	0.388																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(958-960)cAc>cGc		PNN-interacting serine/arginine-rich protein							216.0	191.0	199.0					6																	99853950		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99853950T>C	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.959A>G	6.37:g.99853950T>C	ENSP00000358242:p.His320Arg					PNISR_ENST00000438806.1_Missense_Mutation_p.H320R	p.H320R	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			8	1163	-			320					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.959A>G	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404489	0.25378	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.40756	1.02;1.02	5.68	5.68	0.88126	.	0.308382	0.30492	N	0.009513	T	0.11965	0.0291	N	0.08118	0	0.39400	D	0.966574	B	0.06786	0.001	B	0.08055	0.003	T	0.10823	-1.0613	10	0.17369	T	0.5	.	16.2269	0.82300	0.0:0.0:0.0:1.0	.	320	Q8TF01	PNISR_HUMAN	R	320	ENSP00000358242:H320R;ENSP00000387997:H320R	ENSP00000358242:H320R	H	-	2	0	PNISR	99960671	1.000000	0.71417	0.453000	0.27007	0.266000	0.26442	5.595000	0.67563	2.296000	0.77279	0.482000	0.46254	CAC		0.388	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		46	277	0	0	0	1	0	46	277				
MYH3	4621	broad.mit.edu	37	17	10532983	10532983	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10532983T>C	ENST00000583535.1	-	40	5814	c.5727A>G	c.(5725-5727)gaA>gaG	p.E1909E	MYH3_ENST00000226209.7_Silent_p.E1909E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1909					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TATCCGCACGTTCCTCGGCCT	0.552																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(5725-5727)gaA>gaG		myosin, heavy chain 3, skeletal muscle, embryonic							86.0	77.0	80.0					17																	10532983		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10532983T>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5727A>G	17.37:g.10532983T>C						MYH3_ENST00000226209.7_Silent_p.E1909E	p.E1909E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			40	5814	-			1909					Q15492	Silent	SNP	ENST00000583535.1	37	c.5727A>G	CCDS11157.1																																																																																				0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		44	360	0	0	0	1	0	44	360				
FKBP9P1	360132	broad.mit.edu	37	7	55750500	55750500	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55750500C>T	ENST00000455909.1	-	0	717					NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)	p.A91T(1)		endometrium(1)|kidney(1)|lung(3)	5						GCCACCTGGGCGTGAATGTAC	0.532																																						ENST00000455909.1																			1	Substitution - Missense(1)	p.A91T(1)	lung(1)	endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like							44.0	43.0	43.0					7																	55750500		692	1590	2282			360132							g.chr7:55750500C>T																													7.37:g.55750500C>T								NR_027340.1|NR_027342.1						0	717	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.532	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			17	291	0	0	0	1	0	17	291				
CHRM5	1133	broad.mit.edu	37	15	34355142	34355142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355142C>T	ENST00000383263.5	+	3	894	c.224C>T	c.(223-225)gCa>gTa	p.A75V	CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	75					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TTAGCCTGTGCAGATCTCATC	0.493																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(223-225)gCa>gTa		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						142.0	113.0	123.0					15																	34355142		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355142C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.224C>T	15.37:g.34355142C>T	ENSP00000372750:p.Ala75Val					CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	p.A75V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	894	+		all_lung(180;1.76e-08)	75					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.224C>T	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864736	0.91511	.	.	ENSG00000184984	ENST00000383263	T	0.79454	-1.27	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91248	0.5027	10	0.87932	D	0	-11.1248	19.8946	0.96949	0.0:1.0:0.0:0.0	.	75	P08912	ACM5_HUMAN	V	75	ENSP00000372750:A75V	ENSP00000372750:A75V	A	+	2	0	CHRM5	32142434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GCA		0.493	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			41	205	0	0	0	1	0	41	205				
DNAJC2	27000	broad.mit.edu	37	7	102967077	102967077	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102967077G>T	ENST00000379263.3	-	5	735	c.485C>A	c.(484-486)cCt>cAt	p.P162H	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	162	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCAAAAGTAGGATCTACACT	0.343																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(484-486)cCt>cAt		DnaJ (Hsp40) homolog, subfamily C, member 2							92.0	85.0	88.0					7																	102967077		1849	4089	5938	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102967077G>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.485C>A	7.37:g.102967077G>T	ENSP00000368565:p.Pro162His					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H	p.P162H	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			5	735	-			162			ZRF1-UBD.		A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.485C>A	CCDS43628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.257838|4.257838	0.80246|0.80246	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000426036|ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.097634	.|0.64402	.|D	.|0.000001	D|D	0.83631|0.83631	0.5296|0.5296	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.684;1.0	.|P;D	.|0.87578	.|0.511;0.998	D|D	0.84601|0.84601	0.0672|0.0672	5|9	.|0.72032	.|D	.|0.01	-18.9832|-18.9832	19.7069|19.7069	0.96076|0.96076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|162;162	.|Q99543-2;Q99543	.|.;DNJC2_HUMAN	I|H	151|162;162;162;88	.|.	.|ENSP00000249270:P162H	L|P	-|-	1|2	2|0	DNAJC2|DNAJC2	102754313|102754313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.955000|8.955000	0.93058|0.93058	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CTA|CCT		0.343	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			35	180	1	0	7.16026e-08	1	7.45543e-08	35	180				
NCAPD3	23310	broad.mit.edu	37	11	134076509	134076509	+	Missense_Mutation	SNP	G	G	A	rs544195866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134076509G>A	ENST00000534548.2	-	8	1065	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	334					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAACTGGACCGCCTGGTTTCT	0.458																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1000-1002)gCg>gTg		non-SMC condensin II complex, subunit D3							138.0	125.0	130.0					11																	134076509		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134076509G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1001C>T	11.37:g.134076509G>A	ENSP00000433681:p.Ala334Val						p.A334V	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	8	1065	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	334					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1001C>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704144	0.88924	.	.	ENSG00000151503	ENST00000534548	T	0.09163	3.01	5.67	5.67	0.87782	Armadillo-type fold (1);	0.098779	0.64402	D	0.000001	T	0.34571	0.0902	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.00569	-1.1666	10	0.48119	T	0.1	-20.4282	20.1313	0.98000	0.0:0.0:1.0:0.0	.	334	P42695	CNDD3_HUMAN	V	334	ENSP00000433681:A334V	ENSP00000431612:A334V	A	-	2	0	NCAPD3	133581719	0.999000	0.42202	0.721000	0.30653	0.749000	0.42624	5.099000	0.64554	2.837000	0.97791	0.655000	0.94253	GCG		0.458	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		96	404	0	0	0	1	0	96	404				
TSPYL6	388951	broad.mit.edu	37	2	54483194	54483194	+	Missense_Mutation	SNP	G	G	A	rs374531982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54483194G>A	ENST00000317802.7	-	1	215	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	32					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TACCTCTGTCGCCTTGCTCTT	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0					ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(94-96)gCg>gTg		TSPY-like 6		G	VAL/ALA,	2,3908		0,2,1953	90.0	101.0	97.0		95,	-2.0	0.0	2		97	1,8269		0,1,4134	no	missense,intron	ACYP2,TSPYL6	NM_001003937.2,NM_138448.3	64,	0,3,6087	AA,AG,GG		0.0121,0.0512,0.0246	probably-damaging,	32/411,	54483194	3,12177	1955	4135	6090	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54483194G>A	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.95C>T	2.37:g.54483194G>A	ENSP00000417919:p.Ala32Val					ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	p.A32V	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	215	-			32					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.95C>T	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	G	9.139	1.013240	0.19277	5.12E-4	1.21E-4	ENSG00000178021	ENST00000317802	T	0.28454	1.61	1.1	-1.96	0.07525	.	.	.	.	.	T	0.21801	0.0525	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	B	0.40410	0.328	T	0.14587	-1.0467	9	0.87932	D	0	.	1.7299	0.02929	0.289:0.0:0.4038:0.3072	.	32	Q8N831	TSYL6_HUMAN	V	32	ENSP00000417919:A32V	ENSP00000417919:A32V	A	-	2	0	TSPYL6	54336698	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.741000	0.04855	-0.705000	0.05035	0.467000	0.42956	GCG		0.622	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		16	773	0	0	0	1	0	16	773				
SYNPO2	171024	broad.mit.edu	37	4	119978917	119978917	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119978917A>G	ENST00000307142.4	+	5	3810	c.3614A>G	c.(3613-3615)aAt>aGt	p.N1205S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAGCCAATAATAATATGTCC	0.433																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3613-3615)aAt>aGt		synaptopodin 2							89.0	84.0	86.0					4																	119978917		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978917A>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3614A>G	4.37:g.119978917A>G	ENSP00000306015:p.Asn1205Ser					SYNPO2_ENST00000448416.2_3'UTR	p.N1205S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3810	+			0					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3614A>G	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.961529	0.00465	.	.	ENSG00000172403	ENST00000307142	T	0.06687	3.27	5.76	-7.26	0.01466	.	1.365610	0.05007	N	0.470170	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.43589	-0.9382	9	.	.	.	-1.0E-4	13.3281	0.60471	0.2603:0.0:0.6428:0.0969	.	1205;1205	B9EG60;Q9UMS6-2	.;.	S	1205	ENSP00000306015:N1205S	.	N	+	2	0	SYNPO2	120198365	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.320000	0.19540	-1.144000	0.02862	-0.256000	0.11100	AAT		0.433	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			90	398	0	0	0	1	0	90	398				
PIGL	9487	broad.mit.edu	37	17	16120588	16120588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120588G>A	ENST00000225609.5	+	1	65	c.48G>A	c.(46-48)tgG>tgA	p.W16*	PIGL_ENST00000395844.4_Nonsense_Mutation_p.W16*|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*|PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000463810.1_3'UTR	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	16					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TCTTGGCATGGGGCTTCCTCT	0.612																																						ENST00000225609.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(46-48)tgG>tgA		phosphatidylinositol glycan anchor biosynthesis, class L							114.0	98.0	104.0					17																	16120588		2203	4300	6503	SO:0001587	stop_gained	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16120588G>A	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.48G>A	17.37:g.16120588G>A	ENSP00000225609:p.Trp16*					PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000395844.3_Nonsense_Mutation_p.W16*|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*	p.W16*	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	1	65	+			16					A8KA67|B4DYN4	Nonsense_Mutation	SNP	ENST00000225609.5	37	c.48G>A	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.270030	0.59540	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	.	.	.	5.22	1.6	0.23607	.	0.885835	0.09977	N	0.731447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.0087	8.2005	0.31421	0.0:0.3186:0.5178:0.1636	.	.	.	.	X	16	.	ENSP00000225609:W16X	W	+	3	0	PIGL	16061313	0.237000	0.23815	0.030000	0.17652	0.199000	0.23934	1.056000	0.30480	1.146000	0.42352	0.655000	0.94253	TGG		0.612	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			50	261	0	0	0	1	0	50	261				
C2orf70	339778	broad.mit.edu	37	2	26798779	26798779	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26798779C>T	ENST00000329615.3	+	2	115	c.84C>T	c.(82-84)ggC>ggT	p.G28G	C2orf70_ENST00000409392.1_Missense_Mutation_p.P16S	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	28						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GGTACCAGGGCCACGTCCCCA	0.612																																						ENST00000409392.1																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						c.(46-48)Cca>Tca		chromosome 2 open reading frame 70							47.0	51.0	50.0					2																	26798779		2044	4181	6225	SO:0001819	synonymous_variant	339778							g.chr2:26798779C>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"""hypothetical protein LOC339778"""						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.84C>T	2.37:g.26798779C>T						C2orf70_ENST00000329615.3_Silent_p.G28G	p.P16S			A6NJV1	CB070_HUMAN			3	148	+			0						Missense_Mutation	SNP	ENST00000329615.3	37	c.46C>T	CCDS42661.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257120	0.10239	.	.	ENSG00000173557	ENST00000409392	.	.	.	4.5	3.6	0.41247	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.23036	N	0.998398	.	.	.	.	.	.	T	0.40117	-0.9580	5	0.87932	D	0	-27.9536	11.0531	0.47903	0.0:0.8991:0.0:0.1009	.	.	.	.	S	16	.	ENSP00000386615:P16S	P	+	1	0	C2orf70	26652283	1.000000	0.71417	0.985000	0.45067	0.036000	0.12997	0.379000	0.20585	2.196000	0.70406	0.462000	0.41574	CCA		0.612	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519		14	353	0	0	0	1	0	14	353				
ABL1	25	broad.mit.edu	37	9	133755491	133755491	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133755491C>A	ENST00000318560.5	+	9	1841	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCCTCCTTTGCTGAAATCCAC	0.532			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1459-1461)gCt>gAt		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						114.0	109.0	111.0					9																	133755491		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133755491C>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1460C>A	9.37:g.133755491C>A	ENSP00000323315:p.Ala487Asp						p.A487D	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	9	1841	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	487			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1460C>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400895	0.83120	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.82893	-1.66;-1.66	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.39898	1.24	0.80722	D	1	P;P	0.45672	0.864;0.864	B;B	0.39258	0.295;0.295	T	0.78157	-0.2313	10	0.37606	T	0.19	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	487;524	P00519;Q59FK4	ABL1_HUMAN;.	D	302;506;487	ENSP00000361423:A506D;ENSP00000323315:A487D	ENSP00000323315:A487D	A	+	2	0	ABL1	132745312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.785000	0.95823	0.655000	0.94253	GCT		0.532	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		75	406	1	0	1.39159e-27	1	1.61281e-27	75	406				
LAMB2	3913	broad.mit.edu	37	3	49168875	49168875	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168875C>T	ENST00000418109.1	-	7	813	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	LAMB2_ENST00000305544.4_Splice_Site_p.V217I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	217	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATAGATGACCTGGAGAAGC	0.597																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.e7-1		laminin, beta 2 (laminin S)							123.0	116.0	118.0					3																	49168875		2203	4300	6503	SO:0001630	splice_region_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168875C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.649-1G>A	3.37:g.49168875C>T						LAMB2_ENST00000305544.4_Splice_Site_p.V217_splice	p.V217_splice	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	813	-			217			Laminin N-terminal.		Q16321	Splice_Site	SNP	ENST00000418109.1	37	c.648_splice	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.326127	0.81580	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.76709	-1.04;-1.04;-1.04	4.88	4.88	0.63580	Laminin, N-terminal (3);	0.066361	0.64402	D	0.000017	D	0.82618	0.5076	L	0.49640	1.575	0.58432	D	0.999998	D	0.59357	0.985	P	0.60345	0.873	T	0.79065	-0.1956	10	0.23302	T	0.38	.	17.8259	0.88665	0.0:1.0:0.0:0.0	.	217	P55268	LAMB2_HUMAN	I	217;217;68	ENSP00000388325:V217I;ENSP00000307156:V217I;ENSP00000444751:V68I	ENSP00000307156:V217I	V	-	1	0	LAMB2	49143879	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.858000	0.69532	2.541000	0.85698	0.651000	0.88453	GTC		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	Missense_Mutation	21	537	0	0	0	1	0	21	537				
UBQLNL	143630	broad.mit.edu	37	11	5536814	5536814	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5536814T>G	ENST00000380184.1	-	1	1121	c.858A>C	c.(856-858)caA>caC	p.Q286H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	286										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAAAAGGATCTTGCATGCTGT	0.498																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(856-858)caA>caC		ubiquilin-like							114.0	105.0	108.0					11																	5536814		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5536814T>G	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.858A>C	11.37:g.5536814T>G	ENSP00000369531:p.Gln286His					HBG2_ENST00000380259.2_Intron	p.Q286H	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1121	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	286					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.858A>C	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	8.522	0.868898	0.17322	.	.	ENSG00000175518	ENST00000380184	T	0.54279	0.58	5.09	-3.75	0.04372	.	0.899723	0.09404	N	0.806765	T	0.37183	0.0994	L	0.49778	1.585	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39482	-0.9612	10	0.56958	D	0.05	.	0.7817	0.01041	0.4531:0.1873:0.1344:0.2252	.	286	Q8IYU4	UBQLN_HUMAN	H	286	ENSP00000369531:Q286H	ENSP00000369531:Q286H	Q	-	3	2	UBQLNL	5493390	0.000000	0.05858	0.008000	0.14137	0.593000	0.36681	-1.914000	0.01579	-0.550000	0.06183	0.533000	0.62120	CAA		0.498	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		67	253	0	0	0	1	0	67	253				
ITPRIP	85450	broad.mit.edu	37	10	106074778	106074778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106074778C>T	ENST00000337478.1	-	2	1203	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I|ITPRIP_ENST00000278071.2_Missense_Mutation_p.M344I|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	344						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGTTGAAGGGCATGAACTTCC	0.592																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(1030-1032)atG>atA		inositol 1,4,5-trisphosphate receptor interacting protein							85.0	71.0	76.0					10																	106074778		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106074778C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1032G>A	10.37:g.106074778C>T	ENSP00000337178:p.Met344Ile					ITPRIP_ENST00000337478.1_Missense_Mutation_p.M344I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I	p.M344I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1484	-			344					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.1032G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908862	0.02434	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.20738	2.05;2.05;2.05	4.99	3.01	0.34805	.	0.148200	0.64402	D	0.000013	T	0.09468	0.0233	N	0.17631	0.505	0.27709	N	0.945533	B	0.06786	0.001	B	0.08055	0.003	T	0.36866	-0.9730	10	0.02654	T	1	-39.1216	7.4632	0.27306	0.2498:0.4072:0.343:0.0	.	344	Q8IWB1	IPRI_HUMAN	I	344	ENSP00000337178:M344I;ENSP00000278071:M344I;ENSP00000350915:M344I	ENSP00000278071:M344I	M	-	3	0	ITPRIP	106064768	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.183000	0.32041	2.470000	0.83445	0.462000	0.41574	ATG		0.592	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		85	402	0	0	0	1	0	85	402				
RFPL2	10739	broad.mit.edu	37	22	32586765	32586765	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32586765G>T	ENST00000400237.1	-	5	2066	c.1131C>A	c.(1129-1131)gcC>gcA	p.A377A	RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000400236.3_Silent_p.A287A|RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	377							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GGGCTTATTTGGCCTCCCCAG	0.448																																						ENST00000400236.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(859-861)gcC>gcA		ret finger protein-like 2							76.0	83.0	80.0					22																	32586765		2183	4277	6460	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32586765G>T	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.1131C>A	22.37:g.32586765G>T						RFPL2_ENST00000400237.1_Silent_p.A377A|RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000489846.1_5'UTR	p.A287A	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN			5	2066	-			377			B30.2/SPRY.			Silent	SNP	ENST00000400237.1	37	c.861C>A	CCDS43009.2																																																																																				0.448	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		95	507	1	0	6.00224e-42	1	7.30009e-42	95	507				
ABCA5	23461	broad.mit.edu	37	17	67285372	67285372	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67285372A>C	ENST00000392676.3	-	14	1912	c.1848T>G	c.(1846-1848)agT>agG	p.S616R	ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R|ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	616	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTGACCACCACTTAATTTTT	0.308																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(1846-1848)agT>agG		ATP-binding cassette, sub-family A (ABC1), member 5							97.0	95.0	96.0					17																	67285372		2203	4298	6501	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67285372A>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1848T>G	17.37:g.67285372A>C	ENSP00000376443:p.Ser616Arg					ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R|ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R	p.S616R			Q8WWZ7	ABCA5_HUMAN			14	1912	-	Breast(10;3.72e-11)		616			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1848T>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673074	0.67928	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.74002	-0.8;-0.8	5.19	2.89	0.33648	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.90202	0.6937	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.939;0.993	D	0.88819	0.3297	9	.	.	.	.	8.3706	0.32412	0.693:0.0:0.307:0.0	.	616;616	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	R	616	ENSP00000376444:S616R;ENSP00000376443:S616R	.	S	-	3	2	ABCA5	64796967	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.949000	0.29109	0.281000	0.22233	0.397000	0.26171	AGT		0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		55	202	0	0	0	1	0	55	202				
OBFC1	79991	broad.mit.edu	37	10	105657393	105657393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105657393C>T	ENST00000224950.3	-	7	833	c.666G>A	c.(664-666)caG>caA	p.Q222Q	OBFC1_ENST00000369764.1_Silent_p.Q222Q|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	222	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTAAAAGCTCTGCACTCTGT	0.532																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(664-666)caG>caA		oligonucleotide/oligosaccharide-binding fold containing 1							121.0	106.0	111.0					10																	105657393		2203	4300	6503	SO:0001819	synonymous_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105657393C>T	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.666G>A	10.37:g.105657393C>T						OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.Q222Q	p.Q222Q	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	7	833	-		Colorectal(252;0.178)	222					D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	37	c.666G>A	CCDS7552.1																																																																																				0.532	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		77	326	0	0	0	1	0	77	326				
CATSPERG	57828	broad.mit.edu	37	19	38855715	38855715	+	Silent	SNP	C	C	T	rs199784174	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38855715C>T	ENST00000409235.3	+	22	2686	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.S817S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	857					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGGGTTCATCCGGGCTCTGCT	0.622													C|||	22	0.00439297	0.0	0.0	5008	,	,		13665	0.0		0.0	False		,,,				2504	0.0225					ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2569-2571)tcC>tcT		catsper channel auxiliary subunit gamma							79.0	81.0	81.0					19																	38855715		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38855715C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2571C>T	19.37:g.38855715C>T						CATSPERG_ENST00000410018.1_Silent_p.S817S|CATSPERG_ENST00000215069.4_3'UTR	p.S857S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			22	2686	+			857					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2571C>T	CCDS12514.2																																																																																				0.622	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		89	395	0	0	0	1	0	89	395				
DDO	8528	broad.mit.edu	37	6	110729641	110729641	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110729641T>C	ENST00000368924.3	-	3	276	c.261A>G	c.(259-261)acA>acG	p.T87T	DDO_ENST00000368923.3_Silent_p.T87T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	59					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TGTGAATGGGTGTATCTGTAA	0.393																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(259-261)acA>acG		D-aspartate oxidase							104.0	97.0	99.0					6																	110729641		2203	4300	6503	SO:0001819	synonymous_variant	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110729641T>C	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.261A>G	6.37:g.110729641T>C						DDO_ENST00000368925.1_Silent_p.T59T|DDO_ENST00000368923.3_Silent_p.T87T	p.T87T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	3	276	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	59					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	c.261A>G	CCDS5082.1																																																																																				0.393	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			45	181	0	0	0	1	0	45	181				
PCM1	5108	broad.mit.edu	37	8	17883088	17883088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17883088G>T	ENST00000519253.1	+	38	6197	c.5946G>T	c.(5944-5946)caG>caT	p.Q1982H	PCM1_ENST00000325083.8_Missense_Mutation_p.Q1990H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H|PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H			Q15154	PCM1_HUMAN	pericentriolar material 1	1990	Interaction with BBS4.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGAAGAACAGAAAAACCATT	0.289			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(5968-5970)caG>caT		pericentriolar material 1							42.0	39.0	40.0					8																	17883088		1810	4057	5867	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17883088G>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5946G>T	8.37:g.17883088G>T	ENSP00000431099:p.Gln1982His					PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H|PCM1_ENST00000519253.1_Missense_Mutation_p.Q1982H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H	p.Q1990H	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	38	6409	+			1990			Interaction with BBS4.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.5970G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.41|16.41	3.115436|3.115436	0.56505|0.56505	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.24350|.	3.23;3.23;2.94;1.86|.	5.42|5.42	3.59|3.59	0.41128|0.41128	.|.	0.286130|.	0.39909|.	N|.	0.001223|.	T|T	0.54334|0.54334	0.1852|0.1852	L|L	0.50333|0.50333	1.59|1.59	0.48901|0.48901	D|D	0.999721|0.999721	P;P;P;P;B;B;P|.	0.40875|.	0.731;0.731;0.731;0.731;0.003;0.001;0.731|.	B;B;B;B;B;B;B|.	0.40228|.	0.256;0.256;0.323;0.256;0.01;0.006;0.256|.	T|T	0.48340|0.48340	-0.9044|-0.9044	10|5	0.72032|.	D|.	0.01|.	-1.1301|-1.1301	5.4438|5.4438	0.16523|0.16523	0.2254:0.0:0.6288:0.1458|0.2254:0.0:0.6288:0.1458	.|.	1982;1990;789;1982;1935;1826;1990|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	H|I	1990;1982;1826;689|730	ENSP00000327077:Q1990H;ENSP00000431099:Q1982H;ENSP00000430521:Q1826H;ENSP00000328332:Q689H|.	ENSP00000327077:Q1990H|.	Q|R	+|+	3|2	2|0	PCM1|PCM1	17927368|17927368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.981000|1.981000	0.40628|0.40628	0.754000|0.754000	0.32968|0.32968	-0.233000|-0.233000	0.12211|0.12211	CAG|AGA		0.289	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		8	47	1	0	0.000157383	1	0.000159814	8	47				
CR1L	1379	broad.mit.edu	37	1	207881576	207881576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207881576C>T	ENST00000508064.2	+	10	1442	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	461	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAATACTGCCCATTGGAGC	0.433																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1381-1383)gCc>gTc		complement component (3b/4b) receptor 1-like							272.0	261.0	265.0					1																	207881576		1896	4113	6009	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207881576C>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1382C>T	1.37:g.207881576C>T	ENSP00000421736:p.Ala461Val					CR1L_ENST00000530905.1_Intron	p.A461V	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			10	1442	+			461			Sushi 7.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1382C>T	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	7.273	0.607529	0.14002	.	.	ENSG00000197721	ENST00000508064	T	0.65364	-0.15	1.67	0.527	0.17084	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.23886	0.0578	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	9	0.39692	T	0.17	.	3.1841	0.06594	0.0:0.2671:0.0:0.7329	.	461	Q2VPA4	CR1L_HUMAN	V	461	ENSP00000421736:A461V	ENSP00000421736:A461V	A	+	2	0	CR1L	205948199	0.001000	0.12720	0.003000	0.11579	0.054000	0.15201	-0.045000	0.12003	0.140000	0.18849	0.298000	0.19748	GCC		0.433	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		29	668	0	0	0	1	0	29	668				
THAP4	51078	broad.mit.edu	37	2	242573285	242573285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242573285C>T	ENST00000407315.1	-	2	718	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	96							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCGGCCATGGCCTCCAGCCCC	0.647																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(286-288)gGc>gAc		THAP domain containing 4							86.0	90.0	89.0					2																	242573285		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242573285C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.287G>A	2.37:g.242573285C>T	ENSP00000385006:p.Gly96Asp						p.G96D	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	718	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	96					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.287G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491997	0.26774	.	.	ENSG00000176946	ENST00000407315	D	0.95518	-3.73	4.93	4.02	0.46733	.	4.361770	0.00654	N	0.000576	D	0.90854	0.7127	N	0.19112	0.55	0.20926	N	0.999825	B	0.10296	0.003	B	0.08055	0.003	T	0.80037	-0.1550	10	0.27785	T	0.31	-16.158	5.5193	0.16923	0.0:0.6659:0.2012:0.1329	.	96	Q8WY91	THAP4_HUMAN	D	96	ENSP00000385006:G96D	ENSP00000385006:G96D	G	-	2	0	THAP4	242221958	0.964000	0.33143	0.122000	0.21767	0.989000	0.77384	1.921000	0.40035	1.142000	0.42291	0.655000	0.94253	GGC		0.647	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		237	595	0	0	0	1	0	237	595				
NDRG4	65009	broad.mit.edu	37	16	58545414	58545414	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58545414C>A	ENST00000570248.1	+	15	1099	c.993C>A	c.(991-993)gcC>gcA	p.A331A	NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000394282.4_Silent_p.A370A|NDRG4_ENST00000356752.4_Silent_p.A348A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000566192.1_Silent_p.A318A|NDRG4_ENST00000563799.1_Silent_p.A336A	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	331					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCCCACAGGCCTGCACCCACT	0.667																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1108-1110)gcC>gcA		NDRG family member 4							61.0	58.0	59.0					16																	58545414		2198	4297	6495	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58545414C>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.993C>A	16.37:g.58545414C>A						NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000570248.1_Silent_p.A331A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000563799.1_Silent_p.A336A|NDRG4_ENST00000566192.1_Silent_p.A318A|NDRG4_ENST00000356752.4_Silent_p.A348A	p.A370A	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			16	1517	+			331					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.1110C>A	CCDS58466.1																																																																																				0.667	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			116	369	1	0	5.29757e-45	1	6.4907e-45	116	369				
EVPL	2125	broad.mit.edu	37	17	74017770	74017770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017770C>T	ENST00000301607.3	-	8	1153	c.900G>A	c.(898-900)gcG>gcA	p.A300A	EVPL_ENST00000586740.1_Silent_p.A300A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	300	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGCCCCACCGCGGGGTGCC	0.726																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(898-900)gcG>gcA		envoplakin							13.0	16.0	15.0					17																	74017770		2185	4264	6449	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74017770C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.900G>A	17.37:g.74017770C>T						EVPL_ENST00000586740.1_Silent_p.A300A	p.A300A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			8	1153	-			300			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.900G>A	CCDS11737.1																																																																																				0.726	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		29	95	0	0	0	1	0	29	95				
MTMR9	66036	broad.mit.edu	37	8	11163894	11163894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11163894C>T	ENST00000221086.3	+	5	1260	c.787C>T	c.(787-789)Cga>Tga	p.R263*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R178*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	263	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCAGTGGAGGCGAATTCATAA	0.433																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(787-789)Cga>Tga		myotubularin related protein 9							81.0	66.0	71.0					8																	11163894		2203	4300	6503	SO:0001587	stop_gained	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11163894C>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.787C>T	8.37:g.11163894C>T	ENSP00000221086:p.Arg263*					MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R178*	p.R263*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	5	1260	+			263			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Nonsense_Mutation	SNP	ENST00000221086.3	37	c.787C>T	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	C	39	7.287206	0.98189	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	.	.	.	5.67	4.78	0.61160	.	0.046380	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	13.4248	0.61020	0.3:0.7:0.0:0.0	.	.	.	.	X	263;178	.	ENSP00000221086:R263X	R	+	1	2	MTMR9	11201304	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.521000	0.35910	1.362000	0.46000	0.557000	0.71058	CGA		0.433	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		9	225	0	0	0	1	0	9	225				
YAP1	10413	broad.mit.edu	37	11	102033283	102033283	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102033283T>C	ENST00000282441.5	+	3	1057	c.669T>C	c.(667-669)aaT>aaC	p.N223N	YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N|YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000524575.1_Silent_p.N45N	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	223					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TGCAGCAGAATATGATGAACT	0.478																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(667-669)aaT>aaC		Yes-associated protein 1							162.0	152.0	155.0					11																	102033283		2203	4299	6502	SO:0001819	synonymous_variant	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102033283T>C		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.669T>C	11.37:g.102033283T>C						YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000524575.1_Silent_p.N45N|YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N	p.N223N	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	3	1057	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	223					B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	c.669T>C	CCDS44716.1																																																																																				0.478	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		180	710	0	0	0	1	0	180	710				
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144857634C>T	ENST00000369354.3	-	39	6609	c.6420G>A	c.(6418-6420)acG>acA	p.T2140T	PDE4DIP_ENST00000369359.4_Silent_p.T2276T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6826-6828)acG>acA		phosphodiesterase 4D interacting protein							256.0	282.0	273.0					1																	144857634		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857634C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6420G>A	1.37:g.144857634C>T						PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000369354.3_Silent_p.T2140T	p.T2276T			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	42	6866	-			2140					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6828G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.261815	0.23051	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.89	-9.79	0.00494	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.5879	0.02648	0.1528:0.1687:0.3577:0.3208	.	.	.	.	H	217	.	.	R	-	2	0	PDE4DIP	143568991	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.813000	0.01725	-3.163000	0.00227	-0.410000	0.06199	CGC		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		131	1464	0	0	0	1	0	131	1464				
CLIP1	6249	broad.mit.edu	37	12	122848584	122848584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122848584C>T	ENST00000540338.1	-	3	769	c.728G>A	c.(727-729)gGc>gAc	p.G243D	CLIP1_ENST00000545889.1_5'Flank|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000358808.2_Missense_Mutation_p.G243D|CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D|CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	243	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TAACTCCACGCCACACCACTC	0.502																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(727-729)gGc>gAc		CAP-GLY domain containing linker protein 1							182.0	117.0	139.0					12																	122848584		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122848584C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.728G>A	12.37:g.122848584C>T	ENSP00000439093:p.Gly243Asp					CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D|CLIP1_ENST00000540338.1_Missense_Mutation_p.G243D|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D	p.G243D	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	4	882	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		243			CAP-Gly 2.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.728G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350966	0.95830	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	H	0.98883	4.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96244	0.9178	10	0.87932	D	0	-13.7061	20.0812	0.97776	0.0:1.0:0.0:0.0	.	243;243;243;243	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	D	243;243;88;243;243;243;243	ENSP00000303585:G243D;ENSP00000351665:G243D;ENSP00000445531:G243D;ENSP00000439093:G243D;ENSP00000437786:G243D;ENSP00000441409:G243D	ENSP00000303585:G243D	G	-	2	0	CLIP1	121414537	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	7.664000	0.83830	2.752000	0.94435	0.557000	0.71058	GGC		0.502	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		14	197	0	0	0	1	0	14	197				
DMTF1	9988	broad.mit.edu	37	7	86817581	86817581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86817581G>A	ENST00000394703.5	+	15	1938	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000414194.2_Missense_Mutation_p.A193T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	459	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCCCCATGGCAGCATTGCA	0.423																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(577-579)Gca>Aca		cyclin D binding myb-like transcription factor 1							169.0	162.0	164.0					7																	86817581		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86817581G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1375G>A	7.37:g.86817581G>A	ENSP00000378193:p.Ala459Thr					DMTF1_ENST00000394703.5_Missense_Mutation_p.A459T|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T|DMTF1_ENST00000413276.2_Intron	p.A193T			Q9Y222	DMTF1_HUMAN			13	2369	+	Esophageal squamous(14;0.0058)		459			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.577G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253310	0.10185	.	.	ENSG00000135164	ENST00000331242;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T	0.44881	0.94;0.94;0.94;0.91	5.57	-3.61	0.04556	.	0.626890	0.18356	N	0.143710	T	0.17280	0.0415	N	0.03608	-0.345	0.41702	D	0.989404	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.09590	T	0.72	-0.0915	16.8454	0.85979	0.3261:0.0:0.6739:0.0	.	459	Q9Y222	DMTF1_HUMAN	T	459;371;459;193	ENSP00000332171:A459T;ENSP00000412532:A371T;ENSP00000378193:A459T;ENSP00000415910:A193T	ENSP00000332171:A459T	A	+	1	0	DMTF1	86655517	0.995000	0.38212	0.961000	0.40146	0.950000	0.60333	0.446000	0.21694	-0.838000	0.04218	-0.345000	0.07892	GCA		0.423	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		163	591	0	0	0	1	0	163	591				
NRXN3	9369	broad.mit.edu	37	14	79175641	79175641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175641G>A	ENST00000554719.1	+	4	675	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATCTATGGCGAAGTTGTGTT	0.468																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(184-186)Gaa>Aaa		neurexin 3							105.0	101.0	102.0					14																	79175641		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175641G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.184G>A	14.37:g.79175641G>A	ENSP00000451648:p.Glu62Lys					RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K	p.E62K	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	675	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.184G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118189	0.37339	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000553631;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T;T	0.78595	-1.19;-0.25;-0.25;-1.19	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.126176	0.56097	D	0.000030	T	0.57330	0.2046	N	0.08118	0	0.46849	D	0.999226	P;P	0.42993	0.797;0.622	B;B	0.32090	0.085;0.14	T	0.61302	-0.7090	9	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	435;62	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	K	435;433;6;62;62;6	ENSP00000451947:E6K;ENSP00000451648:E62K;ENSP00000338349:E62K;ENSP00000450462:E6K	.	E	+	1	0	NRXN3	78245394	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.968000	0.87980	2.518000	0.84900	0.563000	0.77884	GAA		0.468	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		78	324	0	0	0	1	0	78	324				
HNRNPCL1	343069	broad.mit.edu	37	1	12907993	12907993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12907993C>A	ENST00000317869.6	-	2	375	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	50	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGGCAAAGCCCTTATGAACAG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(148-150)aaG>aaT		heterogeneous nuclear ribonucleoprotein C-like 1							92.0	92.0	92.0					1																	12907993		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907993C>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.150G>T	1.37:g.12907993C>A	ENSP00000365370:p.Lys50Asn						p.K50N	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	375	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.150G>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303196	0.40795	.	.	ENSG00000179172	ENST00000317869	T	0.52983	0.64	1.09	0.111	0.14619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000002	T	0.44973	0.1319	M	0.68317	2.08	0.49130	D	0.999759	P	0.41978	0.767	B	0.44224	0.444	T	0.34900	-0.9810	10	0.54805	T	0.06	.	7.017	0.24892	0.0:0.7118:0.2881:0.0	.	50	O60812	HNRCL_HUMAN	N	50	ENSP00000365370:K50N	ENSP00000365370:K50N	K	-	3	2	HNRNPCL1	12830580	1.000000	0.71417	0.379000	0.26080	0.121000	0.20230	0.593000	0.23999	0.051000	0.15978	-0.527000	0.04329	AAG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		72	660	1	0	6.86016e-32	1	8.08805e-32	72	660				
FRYL	285527	broad.mit.edu	37	4	48604058	48604058	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604058C>A	ENST00000503238.1	-	10	1013	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	FRYL_ENST00000358350.4_Missense_Mutation_p.Q338H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H|FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H			O94915	FRYL_HUMAN	FRY-like	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAAACAGTTCTGTAGGAAAA	0.313																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1012-1014)caG>caT		FRY-like							60.0	59.0	60.0					4																	48604058		1802	4052	5854	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48604058C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1014G>T	4.37:g.48604058C>A	ENSP00000426064:p.Gln338His					FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.Q338H|FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H	p.Q338H	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			13	1618	-			338					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.1014G>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213028	0.58452	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.14;-0.2	5.54	-0.577	0.11727	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000004	T	0.60715	0.2290	N	0.19112	0.55	0.80722	D	1	P;D	0.55605	0.891;0.972	P;P	0.57425	0.601;0.82	T	0.59172	-0.7504	10	0.49607	T	0.09	.	11.0087	0.47651	0.0:0.4995:0.0:0.5004	.	338;338	F2Z2S2;O94915	.;FRYL_HUMAN	H	338;338;338;338;44	ENSP00000426064:Q338H;ENSP00000351113:Q338H;ENSP00000441114:Q338H;ENSP00000421584:Q338H;ENSP00000425592:Q44H	ENSP00000351113:Q338H	Q	-	3	2	FRYL	48298815	0.982000	0.34865	0.997000	0.53966	0.995000	0.86356	0.257000	0.18369	-0.072000	0.12864	-0.140000	0.14226	CAG		0.313	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			39	185	1	0	1.69901e-12	1	1.82497e-12	39	185				
DDX39B	7919	broad.mit.edu	37	6	31499109	31499109	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31499109G>A	ENST00000396172.1	-	8	1571	c.941C>T	c.(940-942)gCc>gTc	p.A314V	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Missense_Mutation_p.A314V|DDX39B_ENST00000417556.2_Missense_Mutation_p.A329V|DDX39B_ENST00000376177.2_Missense_Mutation_p.A314V|DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000415382.2_Missense_Mutation_p.A236V	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	314	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATGGCAATGGCTGGGAAGTT	0.552																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(985-987)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							81.0	75.0	77.0					6																	31499109		2203	4300	6503	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31499109G>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.941C>T	6.37:g.31499109G>A	ENSP00000379475:p.Ala314Val					DDX39B_ENST00000376177.2_Missense_Mutation_p.A314V|DDX39B_ENST00000396172.1_Missense_Mutation_p.A314V|DDX39B_ENST00000458640.1_Missense_Mutation_p.A314V|DDX39B_ENST00000415382.2_Missense_Mutation_p.A236V|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	p.A329V			Q13838	DX39B_HUMAN			9	1616	-			314			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.986C>T	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.115970|5.115970	0.94339|0.94339	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908|ENST00000417023	T;T;T;T;T;T|.	0.74526|.	-0.85;-0.85;-0.85;-0.85;-0.85;3.64|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39332|0.39332	0.1074|0.1074	N|N	0.16833|0.16833	0.445|0.445	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	0.961;0.999;0.798;1.0;0.999|.	P;D;B;D;D|.	0.72075|.	0.599;0.927;0.143;0.976;0.927|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|5	0.06365|.	T|.	0.9|.	-15.1038|-15.1038	17.0466|17.0466	0.86505|0.86505	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	236;314;314;329;213|.	B4DP52;Q13838;Q5STU3;F8VQ10;B0V2L1|.	.;DX39B_HUMAN;.;.;.|.	V|S	314;314;314;329;236;236|78	ENSP00000365347:A314V;ENSP00000416269:A314V;ENSP00000379475:A314V;ENSP00000412582:A329V;ENSP00000392669:A236V;ENSP00000408000:A236V|.	ENSP00000365347:A314V|.	A|P	-|-	2|1	0|0	DDX39B|DDX39B	31607088|31607088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.873000|8.873000	0.92357|0.92357	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.552	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		18	418	0	0	0	1	0	18	418				
PREX1	57580	broad.mit.edu	37	20	47361598	47361598	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47361598C>A	ENST00000371941.3	-	3	400	c.378G>T	c.(376-378)caG>caT	p.Q126H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q126H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	126	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CATGCTGAGACTGCGGCTCCG	0.483																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(376-378)caG>caT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							135.0	139.0	137.0					20																	47361598		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47361598C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.378G>T	20.37:g.47361598C>A	ENSP00000361009:p.Gln126His					PREX1_ENST00000371941.3_Missense_Mutation_p.Q126H	p.Q126H			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		3	400	-			126			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.378G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984385	0.18889	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.63255	-0.03;-0.03	4.74	3.8	0.43715	Dbl homology (DH) domain (5);	0.000000	0.47093	U	0.000244	T	0.44180	0.1281	N	0.22421	0.69	0.50313	D	0.999863	B	0.14012	0.009	B	0.17979	0.02	T	0.29458	-1.0011	10	0.33141	T	0.24	.	7.7548	0.28917	0.0:0.7448:0.0:0.2552	.	126	Q8TCU6	PREX1_HUMAN	H	126	ENSP00000361009:Q126H;ENSP00000379522:Q126H	ENSP00000361009:Q126H	Q	-	3	2	PREX1	46795005	1.000000	0.71417	0.997000	0.53966	0.519000	0.34347	0.839000	0.27586	1.218000	0.43458	0.561000	0.74099	CAG		0.483	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		42	902	1	0	2.58029e-29	1	3.0132e-29	42	902				
ZNF81	347344	broad.mit.edu	37	X	47775190	47775190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47775190G>A	ENST00000376954.1	+	6	1513	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E			P51508	ZNF81_HUMAN	zinc finger protein 81	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCATACTGGAGAAAAACTC	0.398																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1144-1146)gGa>gAa		zinc finger protein 81							59.0	59.0	59.0					X																	47775190		2191	4295	6486	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775190G>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1145G>A	X.37:g.47775190G>A	ENSP00000366153:p.Gly382Glu					ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E	p.G382E			P51508	ZNF81_HUMAN			6	1513	+		all_lung(315;0.0973)	382					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1145G>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846366	0.51164	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.25749	1.78;1.78	4.16	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000708	T	0.21347	0.0514	L	0.27975	0.815	0.31963	N	0.608155	P	0.47677	0.899	P	0.46585	0.521	T	0.18429	-1.0337	10	0.72032	D	0.01	.	8.9002	0.35490	0.1139:0.0:0.8861:0.0	.	382	P51508	ZNF81_HUMAN	E	382	ENSP00000366153:G382E;ENSP00000341151:G382E	ENSP00000341151:G382E	G	+	2	0	ZNF81	47660134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.324000	0.59228	1.102000	0.41551	0.600000	0.82982	GGA		0.398	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		80	269	0	0	0	1	0	80	269				
RYR3	6263	broad.mit.edu	37	15	33955915	33955915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33955915T>C	ENST00000389232.4	+	36	5666	c.5596T>C	c.(5596-5598)Ttc>Ctc	p.F1866L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1866	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACCAAGGAGTTCCGCTCACC	0.552																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5596-5598)Ttc>Ctc		ryanodine receptor 3							30.0	30.0	30.0					15																	33955915		1986	4147	6133	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955915T>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5596T>C	15.37:g.33955915T>C	ENSP00000373884:p.Phe1866Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	p.F1866L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	36	5666	+		all_lung(180;7.18e-09)	1866			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5596T>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300383	0.95601	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.72942	-0.7;-0.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.84511	2.7	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.99;0.995	D	0.87923	0.2705	10	0.87932	D	0	.	15.3557	0.74425	0.0:0.0:0.0:1.0	.	1866;1866	Q15413-2;Q15413	.;RYR3_HUMAN	L	1866	ENSP00000373884:F1866L;ENSP00000399610:F1866L	ENSP00000354735:F1866L	F	+	1	0	RYR3	31743207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.820000	0.86633	2.203000	0.70933	0.459000	0.35465	TTC		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	68	0	0	0	1	0	7	68				
GEN1	348654	broad.mit.edu	37	2	17962005	17962005	+	Missense_Mutation	SNP	C	C	T	rs150586336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17962005C>T	ENST00000381254.2	+	14	1740	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.S509L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	509					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S509L(2)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGTTAAATTCGGGGATTTCC	0.368								Homologous recombination																														ENST00000381254.2																			2	Substitution - Missense(2)	p.S509L(2)	large_intestine(2)	breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1525-1527)tCg>tTg	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							76.0	75.0	75.0					2																	17962005		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17962005C>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1526C>T	2.37:g.17962005C>T	ENSP00000370653:p.Ser509Leu					GEN1_ENST00000317402.7_Missense_Mutation_p.S509L|SMC6_ENST00000402989.1_Intron	p.S509L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			14	1740	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		509					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1526C>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277944	0.00254	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.40225	1.9;1.9;1.04	5.46	1.37	0.22104	.	1.331230	0.05002	N	0.469266	T	0.09202	0.0227	N	0.00085	-2.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14008	-1.0488	10	0.25106	T	0.35	-0.0277	1.2389	0.01958	0.1381:0.159:0.2863:0.4166	.	509	Q17RS7	GEN_HUMAN	L	509;509;280;146	ENSP00000318977:S509L;ENSP00000370653:S509L;ENSP00000431542:S280L	ENSP00000318977:S509L	S	+	2	0	GEN1	17825486	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-0.077000	0.11394	0.414000	0.25790	-0.383000	0.06682	TCG		0.368	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		23	219	0	0	0	1	0	23	219				
DYNC1LI1	51143	broad.mit.edu	37	3	32574558	32574558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32574558C>A	ENST00000273130.4	-	8	1103	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	334					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TGTAATATTCCTATTTTCTTA	0.294																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(1000-1002)Gga>Tga		dynein, cytoplasmic 1, light intermediate chain 1							75.0	82.0	80.0					3																	32574558		2203	4288	6491	SO:0001587	stop_gained	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32574558C>A	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1000G>T	3.37:g.32574558C>A	ENSP00000273130:p.Gly334*					DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	p.G334*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			8	1103	-			334					A2RRG7|Q53HC8|Q53HK7	Nonsense_Mutation	SNP	ENST00000273130.4	37	c.1000G>T	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	C	39	7.298957	0.98196	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	.	.	.	5.96	5.96	0.96718	.	0.048924	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.6077	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	334;218	.	ENSP00000273130:G334X	G	-	1	0	DYNC1LI1	32549562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	GGA		0.294	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		30	156	1	0	2.65835e-16	1	2.91905e-16	30	156				
FAT3	120114	broad.mit.edu	37	11	92533803	92533803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92533803G>A	ENST00000298047.6	+	9	7641	c.7624G>A	c.(7624-7626)Gat>Aat	p.D2542N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2392N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2542	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGCCAAGGATCGATTCCT	0.493										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7624-7626)Gat>Aat		FAT atypical cadherin 3							48.0	48.0	48.0					11																	92533803		2061	4203	6264	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533803G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7624G>A	11.37:g.92533803G>A	ENSP00000298047:p.Asp2542Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2392N	p.D2542N			Q8TDW7	FAT3_HUMAN			9	7641	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2542			Cadherin 23.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7624G>A		.	.	.	.	.	.	.	.	.	.	G	20.4	3.981542	0.74474	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60424	0.19;0.19;0.19	5.95	5.04	0.67666	.	.	.	.	.	T	0.44159	0.1280	L	0.33485	1.01	0.80722	D	1	B	0.29766	0.256	B	0.25140	0.058	T	0.37911	-0.9685	9	0.39692	T	0.17	.	10.5916	0.45312	0.0684:0.1337:0.7978:0.0	.	2542	Q8TDW7-3	.	N	2542;2542;2392	ENSP00000298047:D2542N;ENSP00000387040:D2542N;ENSP00000432586:D2392N	ENSP00000298047:D2542N	D	+	1	0	FAT3	92173451	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.887000	0.63156	1.511000	0.48818	0.655000	0.94253	GAT		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		29	107	0	0	0	1	0	29	107				
SRPX	8406	broad.mit.edu	37	X	38020292	38020292	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38020292G>A	ENST00000378533.3	-	6	775	c.669C>T	c.(667-669)ggC>ggT	p.G223G	SRPX_ENST00000343800.6_Silent_p.G210G|SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000479015.1_5'Flank|SRPX_ENST00000544439.1_Silent_p.G203G|SRPX_ENST00000432886.2_Silent_p.G164G|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	223	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTGGGGGGAGGCCTTTTAGAA	0.438																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(667-669)ggC>ggT		sushi-repeat containing protein, X-linked							69.0	63.0	65.0					X																	38020292		2202	4299	6501	SO:0001819	synonymous_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38020292G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.669C>T	X.37:g.38020292G>A						SRPX_ENST00000544439.1_Silent_p.G203G|SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000432886.2_Silent_p.G164G|SRPX_ENST00000343800.6_Silent_p.G210G|TM4SF2_ENST00000465127.1_Intron	p.G223G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			6	775	-			223			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	ENST00000378533.3	37	c.669C>T	CCDS14245.1																																																																																				0.438	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		36	296	0	0	0	1	0	36	296				
USP15	9958	broad.mit.edu	37	12	62775384	62775384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62775384C>T	ENST00000280377.5	+	9	1087	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	USP15_ENST00000353364.3_Silent_p.A314A|USP15_ENST00000393654.3_Silent_p.A318A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	343	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AATCTTATGCCGAACTGATCA	0.403																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1027-1029)gcC>gcT		ubiquitin specific peptidase 15							168.0	146.0	154.0					12																	62775384		2203	4300	6503	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62775384C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1029C>T	12.37:g.62775384C>T						USP15_ENST00000393654.3_Silent_p.A318A|USP15_ENST00000353364.3_Silent_p.A314A	p.A343A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	9	1087	+			343					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.1029C>T	CCDS58251.1																																																																																				0.403	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		68	282	0	0	0	1	0	68	282				
AHNAK	79026	broad.mit.edu	37	11	62295806	62295806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62295806G>A	ENST00000378024.4	-	5	6357	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2028					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCATTTTGGGTCCTTTGAT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6082-6084)cCc>cTc		AHNAK nucleoprotein							341.0	333.0	336.0					11																	62295806		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295806G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6083C>T	11.37:g.62295806G>A	ENSP00000367263:p.Pro2028Leu					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2028L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6357	-		Melanoma(852;0.155)	2028					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6083C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	8.654	0.898950	0.17686	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05717	3.4	3.9	3.9	0.45041	.	0.000000	0.34555	U	0.003875	T	0.40247	0.1109	H	0.97940	4.11	0.45087	D	0.9981	D	0.76494	0.999	D	0.76575	0.988	T	0.65676	-0.6110	10	0.87932	D	0	.	15.5123	0.75793	0.0:0.0:1.0:0.0	.	2028	Q09666	AHNK_HUMAN	L	117;2028	ENSP00000367263:P2028L	ENSP00000244934:P117L	P	-	2	0	AHNAK	62052382	.	.	0.153000	0.22517	0.340000	0.28889	.	.	1.723000	0.51488	0.298000	0.19748	CCC		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		388	1818	0	0	0	1	0	388	1818				
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T	rs180917395	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	16					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587													T|||	4	0.000798722	0.0	0.0	5008	,	,		19052	0.004		0.0	False		,,,				2504	0.0					ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(46-48)Gcc>Acc		apolipoprotein A-IV							133.0	128.0	129.0					11																	116693862		2201	4292	6493	SO:0001583	missense	337							g.chr11:116693862C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.46G>A	11.37:g.116693862C>T	ENSP00000350425:p.Ala16Thr						p.A16T	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	1	160	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.46G>A	CCDS31681.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	3.413	-0.119846	0.06838	.	.	ENSG00000110244	ENST00000357780	T	0.70399	-0.48	4.33	3.15	0.36227	.	0.172534	0.40302	N	0.001133	T	0.24586	0.0596	N	0.00265	-1.74	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	10	0.02654	T	1	.	3.7025	0.08387	0.189:0.1025:0.0:0.7085	.	16	P06727	APOA4_HUMAN	T	16	ENSP00000350425:A16T	ENSP00000350425:A16T	A	-	1	0	APOA4	116199072	0.672000	0.27530	0.748000	0.31131	0.699000	0.40488	0.438000	0.21559	0.402000	0.25451	-0.254000	0.11334	GCC		0.587	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		99	693	0	0	0	1	0	99	693				
CHD5	26038	broad.mit.edu	37	1	6214959	6214959	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6214959C>T	ENST00000262450.3	-	5	606		c.e5-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AATGAGTGGCCTGTAGGGGGA	0.617																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.e5-1		chromodomain helicase DNA binding protein 5							44.0	48.0	46.0					1																	6214959		2203	4300	6503	SO:0001630	splice_region_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214959C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.507-1G>A	1.37:g.6214959C>T						CHD5_ENST00000378021.1_Splice_Site		NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	606	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)						A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	37		CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989004	0.35131	.	.	ENSG00000116254	ENST00000262450	.	.	.	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1333	0.81461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6137546	1.000000	0.71417	0.894000	0.35097	0.226000	0.24999	7.381000	0.79718	1.876000	0.54355	0.313000	0.20887	.		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	Intron	33	219	0	0	0	1	0	33	219				
AK9	221264	broad.mit.edu	37	6	109815261	109815261	+	Missense_Mutation	SNP	G	G	A	rs372465779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109815261G>A	ENST00000424296.2	-	40	5532	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1819					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TAAGCATCCCGCTGCATTCAT	0.368																																						ENST00000424296.2																			0											c.(5455-5457)gCg>gTg		adenylate kinase 9							65.0	68.0	67.0					6																	109815261		2203	4300	6503	SO:0001583	missense	221264							g.chr6:109815261G>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5456C>T	6.37:g.109815261G>A	ENSP00000410186:p.Ala1819Val					RP5-919F19.5_ENST00000423747.1_RNA	p.A1819V	NM_001145128.2	NP_001138600.2					40	5532	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.5456C>T	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.796|9.796	1.179122|1.179122	0.21787|0.21787	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.58060|.	0.36|.	5.37|5.37	-1.73|-1.73	0.08081|0.08081	.|.	0.284581|.	0.38663|.	N|.	0.001618|.	T|T	0.03564|0.03564	0.0102|0.0102	N|N	0.00408|0.00408	-1.53|-1.53	0.80722|0.80722	D|D	1|1	B;B|.	0.16166|.	0.001;0.016|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.33854|0.33854	-0.9852|-0.9852	9|5	.|.	.|.	.|.	.|.	6.3802|6.3802	0.21529|0.21529	0.6263:0.1522:0.2215:0.0|0.6263:0.1522:0.2215:0.0	.|.	204;1819|.	B7ZL24;Q5TCS8|.	.;AKD1_HUMAN|.	V|W	1819|657	ENSP00000410186:A1819V|.	.|.	A|R	-|-	2|1	0|2	AKD1|AKD1	109921954|109921954	0.877000|0.877000	0.30153|0.30153	0.969000|0.969000	0.41365|0.41365	0.872000|0.872000	0.50106|0.50106	1.605000|1.605000	0.36815|0.36815	0.005000|0.005000	0.14708|0.14708	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		39	250	0	0	0	1	0	39	250				
NFKB2	4791	broad.mit.edu	37	10	104157352	104157352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104157352C>T	ENST00000369966.3	+	8	821	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	NFKB2_ENST00000189444.6_Missense_Mutation_p.R191W|NFKB2_ENST00000428099.1_Missense_Mutation_p.R191W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	191	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GAGTATAGTGCGGCTGCGCTT	0.582			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(571-573)Cgg>Tgg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							189.0	221.0	210.0					10																	104157352		2111	4225	6336	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104157352C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.571C>T	10.37:g.104157352C>T	ENSP00000358983:p.Arg191Trp					NFKB2_ENST00000428099.1_Missense_Mutation_p.R191W|NFKB2_ENST00000189444.6_Missense_Mutation_p.R191W	p.R191W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	8	821	+		Colorectal(252;0.00957)	191			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.571C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593452	0.66219	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.61859	0.07;0.07;0.07	4.95	4.03	0.46877	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84191	0.0445	10	0.87932	D	0	.	14.3684	0.66823	0.1573:0.8427:0.0:0.0	.	191;191;191	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	W	191	ENSP00000410256:R191W;ENSP00000358983:R191W;ENSP00000189444:R191W	ENSP00000189444:R191W	R	+	1	2	NFKB2	104147342	0.838000	0.29461	0.935000	0.37517	0.928000	0.56348	1.063000	0.30567	1.035000	0.39972	0.561000	0.74099	CGG		0.582	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			20	1173	0	0	0	1	0	20	1173				
ZBBX	79740	broad.mit.edu	37	3	167031904	167031904	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167031904A>C	ENST00000392766.2	-	16	1615	c.1275T>G	c.(1273-1275)agT>agG	p.S425R	ZBBX_ENST00000455345.2_Splice_Site_p.S425R|ZBBX_ENST00000392767.2_Splice_Site_p.S425R|ZBBX_ENST00000392764.1_Splice_Site_p.S396R|ZBBX_ENST00000307529.5_Splice_Site_p.S425R|ZBBX_ENST00000469220.1_5'Flank	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	425						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAAAAGCACAACTTTCACATG	0.279																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.e16-1		zinc finger, B-box domain containing							84.0	75.0	78.0					3																	167031904		1813	4071	5884	SO:0001630	splice_region_variant	79740					intracellular	zinc ion binding	g.chr3:167031904A>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1275-1T>G	3.37:g.167031904A>C						ZBBX_ENST00000455345.2_Splice_Site_p.S425_splice|ZBBX_ENST00000392764.1_Splice_Site_p.S396_splice|ZBBX_ENST00000392767.2_Splice_Site_p.S425_splice|ZBBX_ENST00000307529.5_Splice_Site_p.S425_splice	p.S425_splice	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			16	1615	-			425					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Splice_Site	SNP	ENST00000392766.2	37	c.1274_splice	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	5.686	0.311074	0.10789	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.15256	2.62;2.62;2.64;2.64;2.44	5.29	4.1	0.47936	.	0.565498	0.19403	N	0.115122	T	0.15478	0.0373	L	0.41824	1.3	0.30198	N	0.798877	P;B	0.39157	0.662;0.21	B;B	0.38655	0.278;0.144	T	0.06391	-1.0829	10	0.87932	D	0	.	9.318	0.37946	0.8187:0.1813:0.0:0.0	.	425;425	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	425;425;425;425;396	ENSP00000376519:S425R;ENSP00000376520:S425R;ENSP00000390232:S425R;ENSP00000305065:S425R;ENSP00000376517:S396R	ENSP00000305065:S425R	S	-	3	2	ZBBX	168514598	0.501000	0.26099	0.643000	0.29450	0.011000	0.07611	0.742000	0.26216	0.911000	0.36747	0.533000	0.62120	AGT		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	Missense_Mutation	46	221	0	0	0	1	0	46	221				
FBXO38	81545	broad.mit.edu	37	5	147781654	147781654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147781654G>A	ENST00000340253.5	+	4	540	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.E124E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	124					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(370-372)gaG>gaA		F-box protein 38							143.0	136.0	138.0					5																	147781654		2203	4299	6502	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147781654G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.372G>A	5.37:g.147781654G>A						FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000296701.6_Silent_p.E124E	p.E124E			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	540	+			124					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.372G>A																																																																																					0.448	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		98	481	0	0	0	1	0	98	481				
SCYL1	57410	broad.mit.edu	37	11	65304578	65304578	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65304578C>T	ENST00000270176.5	+	14	2015	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D|SCYL1_ENST00000533862.1_Silent_p.D646D|SCYL1_ENST00000524944.1_Silent_p.D646D|SCYL1_ENST00000527009.1_Silent_p.D503D	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	646					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GATGGGACGACGAAGACTGGG	0.642																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1936-1938)gaC>gaT		SCY1-like 1 (S. cerevisiae)							67.0	83.0	78.0					11																	65304578		2127	4244	6371	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65304578C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1938C>T	11.37:g.65304578C>T						SCYL1_ENST00000527630.1_Intron|SCYL1_ENST00000533862.1_Silent_p.D646D|SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000527009.1_Silent_p.D503D|SCYL1_ENST00000270176.5_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D	p.D646D			Q96KG9	NTKL_HUMAN			14	1971	+			646					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1938C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380844	0.05000	.	.	ENSG00000142186	ENST00000417543	.	.	.	5.15	-9.27	0.00659	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60378	-0.7275	5	0.40728	T	0.16	-4.8276	6.8351	0.23931	0.1907:0.3926:0.0:0.4168	.	.	.	.	M	331	.	ENSP00000393598:T331M	T	+	2	0	SCYL1	65061154	0.000000	0.05858	0.054000	0.19295	0.339000	0.28857	-4.035000	0.00309	-1.521000	0.01771	-1.384000	0.01168	ACG		0.642	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		34	231	0	0	0	1	0	34	231				
FILIP1L	11259	broad.mit.edu	37	3	99567303	99567303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567303C>T	ENST00000354552.3	-	5	3687	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.A1073T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1073						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGGCTACAGCTTGCATGTAA	0.448																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(3217-3219)Gct>Act		filamin A interacting protein 1-like							238.0	241.0	240.0					3																	99567303		2097	4233	6330	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567303C>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3217G>A	3.37:g.99567303C>T	ENSP00000346560:p.Ala1073Thr					FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.A1073T|CMSS1_ENST00000496116.1_Intron	p.A1073T	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3687	-			1073					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.3217G>A	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524408	0.27299	.	.	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.24538	2.24;1.92;1.92;2.24;1.92;1.85	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000079	T	0.16171	0.0389	N	0.22421	0.69	0.39866	D	0.973442	B;B	0.31193	0.312;0.208	B;B	0.29524	0.103;0.048	T	0.10965	-1.0607	10	0.11485	T	0.65	-11.442	12.7881	0.57518	0.0:0.9256:0.0:0.0744	.	1073;1073	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	52;1073;649;833;1073;833;819;833	ENSP00000346560:A1073T;ENSP00000417774:A649T;ENSP00000419642:A833T;ENSP00000327880:A1073T;ENSP00000373192:A833T;ENSP00000419874:A833T	ENSP00000327880:A1073T	A	-	1	0	FILIP1L	101049993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.826000	0.97356	0.655000	0.94253	GCT		0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		167	758	0	0	0	1	0	167	758				
SOX2	6657	broad.mit.edu	37	3	181430930	181430930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:181430930C>T	ENST00000325404.1	+	1	1209	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	261					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCTCCCACTCCAGGGCGCCC	0.682			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"""NSCLC, oesophageal squamous carcinoma"""		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(781-783)tCc>tTc		SRY (sex determining region Y)-box 2							45.0	40.0	42.0					3																	181430930		2199	4292	6491	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430930C>T	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.782C>T	3.37:g.181430930C>T	ENSP00000323588:p.Ser261Phe					SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	p.S261F	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	1209	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		261					Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.782C>T	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738824	0.49045	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.85339	-1.97;-1.97	5.5	5.5	0.81552	.	0.185050	0.48767	D	0.000174	D	0.83797	0.5332	L	0.49126	1.545	0.58432	D	0.999999	P	0.41159	0.74	B	0.39738	0.308	D	0.85853	0.1405	10	0.87932	D	0	.	18.7542	0.91826	0.0:1.0:0.0:0.0	.	261	P48431	SOX2_HUMAN	F	261	ENSP00000439111:S261F;ENSP00000323588:S261F	ENSP00000323588:S261F	S	+	2	0	SOX2	182913624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.457000	0.60088	2.735000	0.93741	0.655000	0.94253	TCC		0.682	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		76	374	0	0	0	1	0	76	374				
MYH8	4626	broad.mit.edu	37	17	10293915	10293915	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10293915T>A	ENST00000403437.2	-	40	5764	c.5670A>T	c.(5668-5670)gaA>gaT	p.E1890D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1890					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTGGATTGTTCCTCCTAAG	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5668-5670)gaA>gaT		myosin, heavy chain 8, skeletal muscle, perinatal							81.0	85.0	84.0					17																	10293915		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10293915T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5670A>T	17.37:g.10293915T>A	ENSP00000384330:p.Glu1890Asp					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.E1890D	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			40	5764	-			1890					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5670A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108485	0.77096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81996	-1.56	5.15	0.555	0.17247	Myosin tail (1);	0.000000	0.42172	U	0.000741	D	0.90930	0.7149	M	0.92833	3.35	0.40283	D	0.978417	D	0.54207	0.965	D	0.65573	0.936	D	0.89785	0.3964	10	0.72032	D	0.01	.	9.6578	0.39936	0.0:0.4681:0.0:0.5319	.	1890	P13535	MYH8_HUMAN	D	1890	ENSP00000384330:E1890D	ENSP00000252173:E1890D	E	-	3	2	MYH8	10234640	0.026000	0.19158	0.998000	0.56505	0.921000	0.55340	-0.867000	0.04241	-0.094000	0.12374	0.528000	0.53228	GAA		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		83	434	0	0	0	1	0	83	434				
IGSF22	283284	broad.mit.edu	37	11	18741319	18741319	+	Missense_Mutation	SNP	C	C	T	rs199982292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18741319C>T	ENST00000513874.1	-	7	779	c.640G>A	c.(640-642)Gac>Aac	p.D214N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	214	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCCCGAAAGTCGGTGAAACCA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		21333	0.0		0.002	False		,,,				2504	0.0					ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(640-642)Gac>Aac		immunoglobulin superfamily, member 22		C	ASN/ASP	5,3725		0,5,1860	174.0	171.0	172.0		640	3.3	0.1	11		172	25,8191		0,25,4083	yes	missense	IGSF22	NM_173588.3	23	0,30,5943	TT,TC,CC		0.3043,0.134,0.2511	probably-damaging	214/1327	18741319	30,11916	1865	4108	5973	SO:0001583	missense	283284							g.chr11:18741319C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.640G>A	11.37:g.18741319C>T	ENSP00000421191:p.Asp214Asn					RP11-1081L13.4_ENST00000527285.1_RNA	p.D214N	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			7	779	-			214			Lys-rich.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.640G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797221	0.70567	0.00134	0.003043	ENSG00000179057	ENST00000513874	T	0.60672	0.17	5.15	3.29	0.37713	.	0.177861	0.26804	N	0.022415	T	0.51415	0.1673	M	0.78285	2.405	0.21064	N	0.999792	D	0.56521	0.976	B	0.41174	0.349	T	0.47471	-0.9115	10	0.24483	T	0.36	.	6.0508	0.19785	0.15:0.6882:0.0:0.1618	.	214	D6RGV7	.	N	214	ENSP00000421191:D214N	ENSP00000322422:D214N	D	-	1	0	IGSF22	18697895	0.804000	0.28969	0.134000	0.22075	0.949000	0.60115	1.415000	0.34748	0.578000	0.29487	0.650000	0.86243	GAC		0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		218	933	0	0	0	1	0	218	933				
DMPK	1760	broad.mit.edu	37	19	46281893	46281893	+	Missense_Mutation	SNP	C	C	A	rs145501208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281893C>A	ENST00000291270.4	-	5	564	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000600757.1_Missense_Mutation_p.V157F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TACTCCATGACCAGGTACTGA	0.607																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(469-471)Gtc>Ttc		dystrophia myotonica-protein kinase							53.0	47.0	49.0					19																	46281893		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281893C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.439G>T	19.37:g.46281893C>A	ENSP00000291270:p.Val147Phe					DMPK_ENST00000291270.4_Missense_Mutation_p.V147F|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F	p.V157F			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	4	1156	-		Ovarian(192;0.0308)|all_neural(266;0.112)	157			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.469G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591925	0.86953	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.84	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38164	N	0.001799	T	0.72676	0.3490	M	0.85299	2.745	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.83275	0.995;0.983;0.983;0.984;0.984;0.99;0.985;0.996	T	0.76553	-0.2917	10	0.87932	D	0	.	10.7964	0.46464	0.0:0.907:0.0:0.093	.	147;147;173;147;147;147;194;157	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	F	147;173;147;147;147;157;157;147	ENSP00000401753:V147F;ENSP00000291270:V147F;ENSP00000413417:V147F;ENSP00000345997:V157F;ENSP00000346168:V147F	ENSP00000291270:V147F	V	-	1	0	DMPK	50973733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.663000	0.61532	1.265000	0.44215	0.561000	0.74099	GTC		0.607	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		24	136	1	0	4.16121e-05	1	4.24482e-05	24	136				
SERPINA5	5104	broad.mit.edu	37	14	95054153	95054153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054153C>A	ENST00000554866.1	+	2	568	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	SERPINA5_ENST00000329597.7_Missense_Mutation_p.L152M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	152					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGAAGACGCTGTACCTGGC	0.532																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(454-456)Ctg>Atg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						93.0	79.0	84.0					14																	95054153		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054153C>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.454C>A	14.37:g.95054153C>A	ENSP00000451126:p.Leu152Met					SERPINA5_ENST00000554866.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M	p.L152M	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	664	+			152					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.454C>A	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308874	0.40895	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	3.74	-2.4	0.06583	Serpin domain (3);	0.443348	0.18646	N	0.135143	D	0.84754	0.5542	M	0.65320	2	0.09310	N	1	B;P	0.45212	0.263;0.853	B;P	0.54924	0.258;0.764	T	0.76247	-0.3029	10	0.66056	D	0.02	.	4.7179	0.12904	0.4759:0.2975:0.0:0.2266	.	152;152	G3V5Q9;P05154	.;IPSP_HUMAN	M	152;152;152;152;152;152;4;76;152;152	ENSP00000450484:L152M;ENSP00000450837:L152M;ENSP00000452469:L152M;ENSP00000451126:L152M;ENSP00000333203:L152M;ENSP00000450745:L152M;ENSP00000451610:L152M;ENSP00000450485:L152M	ENSP00000333203:L152M	L	+	1	2	SERPINA5	94123906	0.000000	0.05858	0.042000	0.18584	0.019000	0.09904	-0.517000	0.06275	-0.244000	0.09639	-1.383000	0.01170	CTG		0.532	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		48	206	1	0	4.62893e-10	1	4.89299e-10	48	206				
SLC45A2	51151	broad.mit.edu	37	5	33944779	33944779	+	Missense_Mutation	SNP	C	C	T	rs371334000		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33944779C>T	ENST00000296589.4	-	7	1713	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T	SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	523					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAAAGAGAGCGACAAAGCAA	0.512																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000296589.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1567-1569)Gct>Act		solute carrier family 45, member 2		C	THR/ALA	0,4406		0,0,2203	67.0	62.0	64.0		1567	5.7	1.0	5		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A2	NM_016180.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	523/531	33944779	1,13005	2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33944779C>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1567G>A	5.37:g.33944779C>T	ENSP00000296589:p.Ala523Thr					SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	p.A523T	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN			7	1713	-			523					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1567G>A	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484837	0.84854	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059	D;T	0.88818	-2.43;-1.45	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);	0.113165	0.64402	D	0.000012	D	0.91784	0.7401	M	0.72479	2.2	0.80722	D	1	D	0.53462	0.96	P	0.51079	0.658	D	0.90334	0.4354	10	0.35671	T	0.21	-6.3658	19.9265	0.97104	0.0:1.0:0.0:0.0	.	523	Q9UMX9	S45A2_HUMAN	T	523;464	ENSP00000296589:A523T;ENSP00000341014:A464T	ENSP00000296589:A523T	A	-	1	0	SLC45A2	33980536	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.755000	0.68750	2.723000	0.93209	0.591000	0.81541	GCT		0.512	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		32	168	0	0	0	1	0	32	168				
CD19	930	broad.mit.edu	37	16	28943379	28943379	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28943379C>T	ENST00000324662.3	+	1	102	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000538922.1_Missense_Mutation_p.P20S			P15391	CD19_HUMAN	CD19 molecule	20	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAAGTCAGGCCCGAGGAACC	0.592																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(58-60)Ccc>Tcc		CD19 molecule							120.0	109.0	113.0					16																	28943379		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28943379C>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.58C>T	16.37:g.28943379C>T	ENSP00000313419:p.Pro20Ser					CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000324662.3_Missense_Mutation_p.P20S	p.P20S	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			1	120	+			20			Ig-like C2-type 1.		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.58C>T	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424646	0.62733	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.35789	1.29;1.29	5.24	3.16	0.36331	Immunoglobulin-like (1);	0.131330	0.35151	N	0.003401	T	0.22975	0.0555	N	0.24115	0.695	0.28910	N	0.892784	B;B	0.26672	0.129;0.156	B;B	0.30105	0.067;0.111	T	0.13072	-1.0523	10	0.49607	T	0.09	-13.4691	6.5767	0.22571	0.0:0.7214:0.1816:0.097	.	20;20	F5H635;P15391	.;CD19_HUMAN	S	20;5;20	ENSP00000437940:P20S;ENSP00000313419:P20S	ENSP00000313419:P20S	P	+	1	0	CD19	28850880	0.000000	0.05858	0.856000	0.33681	0.030000	0.12068	-0.037000	0.12164	1.212000	0.43366	0.558000	0.71614	CCC		0.592	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			48	538	0	0	0	1	0	48	538				
LRRC27	80313	broad.mit.edu	37	10	134188732	134188732	+	Missense_Mutation	SNP	C	C	T	rs200285895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188732C>T	ENST00000368614.3	+	11	1684	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C|LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C|LRRC27_ENST00000368610.3_Missense_Mutation_p.R465C|LRRC27_ENST00000392638.2_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	527										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAAATGTTCGCAGATACCA	0.552																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1393-1395)Cgc>Tgc		leucine rich repeat containing 27							58.0	58.0	58.0					10																	134188732		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134188732C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1579C>T	10.37:g.134188732C>T	ENSP00000357603:p.Arg527Cys					LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368614.3_Missense_Mutation_p.R527C|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C	p.R465C			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	10	1393	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	527					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1393C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243219	0.22796	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T	0.17528	2.27;2.27;4.03;4.03	3.03	-3.05	0.05396	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33007	-0.9885	9	0.87932	D	0	.	4.3647	0.11218	0.0:0.3271:0.4023:0.2706	.	465;527	Q9C0I9-2;Q9C0I9	.;LRC27_HUMAN	C	527;527;465;465	ENSP00000357603:R527C;ENSP00000357602:R527C;ENSP00000357601:R465C;ENSP00000357599:R465C	ENSP00000357599:R465C	R	+	1	0	LRRC27	134038722	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.603000	0.02077	-0.640000	0.05495	-0.469000	0.05056	CGC		0.552	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		39	212	0	0	0	1	0	39	212				
LOC101926911	101926911	broad.mit.edu	37	15	91575710	91575710	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91575710G>A	ENST00000557804.1	+	0	418				AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000501381.3_RNA																							CCAGTTCATCGCCTGTGAGGG	0.642																																						ENST00000557804.1																			0																																																			0							g.chr15:91575710G>A																													15.37:g.91575710G>A														0	418	+									RNA	SNP	ENST00000557804.1	37																																																																																						0.642	AC068831.10-004	KNOWN	basic	antisense	antisense	OTTHUMT00000418639.1			12	40	0	0	0	1	0	12	40				
GLTSCR2	29997	broad.mit.edu	37	19	48255822	48255822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255822G>A	ENST00000246802.5	+	6	761	c.723G>A	c.(721-723)gcG>gcA	p.A241A	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	241						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TGGAGGTGGCGCCTGCCGGAG	0.662																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(721-723)gcG>gcA		glioma tumor suppressor candidate region gene 2							76.0	67.0	70.0					19																	48255822		2203	4300	6503	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48255822G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.723G>A	19.37:g.48255822G>A						GLTSCR2_ENST00000598681.1_3'UTR	p.A241A	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	6	761	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	241					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.723G>A	CCDS12705.1																																																																																				0.662	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		61	287	0	0	0	1	0	61	287				
MECOM	2122	broad.mit.edu	37	3	168806814	168806814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168806814G>T	ENST00000464456.1	-	14	4168	c.2968C>A	c.(2968-2970)Ccg>Acg	p.P990T	MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTGTGTAACGGCTGCTTAAGT	0.388																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2968-2970)Ccg>Acg		MDS1 and EVI1 complex locus							126.0	120.0	122.0					3																	168806814		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168806814G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2968C>A	3.37:g.168806814G>T	ENSP00000419770:p.Pro990Thr					MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T|MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T|MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T|MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T	p.P990T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			14	4168	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2968C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.399013	0.01165	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.04049	3.78;3.78;3.73;3.88;3.73;3.78;3.72;3.88	5.63	4.75	0.60458	.	0.188744	0.37857	N	0.001913	T	0.02230	0.0069	N	0.03154	-0.405	0.54753	D	0.999988	B;B;B;B;B	0.31193	0.312;0.028;0.208;0.069;0.017	B;B;B;B;B	0.25884	0.064;0.027;0.029;0.043;0.012	T	0.39663	-0.9603	10	0.02654	T	1	-3.2994	16.4979	0.84250	0.0:0.0:0.8684:0.1316	.	1187;991;1178;1064;999	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1064;999;990;1000;1178;999;990;1000	ENSP00000264674:P1064T;ENSP00000376493:P999T;ENSP00000419770:P990T;ENSP00000420048:P1000T;ENSP00000417899:P1178T;ENSP00000419995:P999T;ENSP00000420466:P990T;ENSP00000394302:P1000T	ENSP00000264674:P1064T	P	-	1	0	MECOM	170289508	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	6.803000	0.75180	1.502000	0.48669	0.655000	0.94253	CCG		0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		63	386	1	0	6.5469e-37	1	7.85029e-37	63	386				
ITPR3	3710	broad.mit.edu	37	6	33633694	33633694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33633694G>T	ENST00000374316.5	+	15	2552	c.1492G>T	c.(1492-1494)Gtc>Ttc	p.V498F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	498					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGACATCATGGTCACTAAGCC	0.592																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1492-1494)Gtc>Ttc		inositol 1,4,5-trisphosphate receptor, type 3							120.0	86.0	98.0					6																	33633694		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33633694G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1492G>T	6.37:g.33633694G>T	ENSP00000363435:p.Val498Phe					ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F	p.V498F			Q14573	ITPR3_HUMAN			15	2552	+			498					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1492G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112780	0.56398	.	.	ENSG00000096433	ENST00000374316	D	0.95518	-3.73	5.64	5.64	0.86602	Intracellular calcium-release channel (1);	0.053328	0.85682	D	0.000000	D	0.93726	0.7995	L	0.49350	1.555	0.46981	D	0.999279	P	0.45827	0.867	P	0.50136	0.632	D	0.93023	0.6442	10	0.40728	T	0.16	-49.3902	13.9283	0.63978	0.0726:0.0:0.9274:0.0	.	498	Q14573	ITPR3_HUMAN	F	498	ENSP00000363435:V498F	ENSP00000363435:V498F	V	+	1	0	ITPR3	33741672	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.547000	0.60712	2.654000	0.90174	0.563000	0.77884	GTC		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		29	139	1	0	5.45727e-16	1	5.98072e-16	29	139				
SPRR2G	6706	broad.mit.edu	37	1	153122548	153122548	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153122548C>A	ENST00000368748.4	-	2	77	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	13					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGAGGTGGCTGGCAGGGCT	0.562																																						ENST00000368748.4																			0				endometrium(1)|lung(1)|skin(1)	3						c.(37-39)caG>caT		small proline-rich protein 2G							113.0	91.0	99.0					1																	153122548		2203	4300	6503	SO:0001583	missense	0				keratinization	cornified envelope|cytoplasm		g.chr1:153122548C>A	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.39G>T	1.37:g.153122548C>A	ENSP00000357737:p.Gln13His						p.Q13H	NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	77	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		13						Missense_Mutation	SNP	ENST00000368748.4	37	c.39G>T	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235718	0.22626	.	.	ENSG00000159516	ENST00000439437;ENST00000368748	T	0.40476	1.03	5.36	-1.17	0.09648	.	0.258337	0.20535	N	0.090431	T	0.11239	0.0274	.	.	.	0.22317	N	0.999202	B	0.11235	0.004	B	0.12156	0.007	T	0.22173	-1.0224	9	0.87932	D	0	-5.5941	3.6824	0.08316	0.2683:0.4183:0.0:0.3134	.	13	Q9BYE4	SPR2G_HUMAN	H	13	ENSP00000357737:Q13H	ENSP00000357737:Q13H	Q	-	3	2	SPRR2G	151389172	0.008000	0.16893	0.751000	0.31187	0.738000	0.42128	-1.227000	0.02950	-0.105000	0.12132	-0.208000	0.12717	CAG		0.562	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			91	557	1	0	6.07207e-39	1	7.33261e-39	91	557				
AFF1	4299	broad.mit.edu	37	4	88035561	88035561	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035561C>A	ENST00000307808.6	+	11	1975	c.1555C>A	c.(1555-1557)Ctg>Atg	p.L519M	AFF1_ENST00000544085.1_Missense_Mutation_p.L157M|AFF1_ENST00000395146.4_Missense_Mutation_p.L526M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	519					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W525fs*19(2)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGACAACTGGCTGACCAAAGT	0.527																																						ENST00000307808.6																			2	Deletion - Frameshift(2)	p.W525fs*19(2)	liver(2)	breast(1)|large_intestine(2)	3						c.(1555-1557)Ctg>Atg		AF4/FMR2 family, member 1							9.0	15.0	13.0					4																	88035561		2118	4194	6312	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88035561C>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1555C>A	4.37:g.88035561C>A	ENSP00000305689:p.Leu519Met					AFF1_ENST00000544085.1_Missense_Mutation_p.L157M|AFF1_ENST00000395146.4_Missense_Mutation_p.L526M	p.L519M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	1975	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	519					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1555C>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568193	0.45798	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.74632	-0.86;-0.86;-0.86	5.89	2.85	0.33270	.	0.304358	0.28011	N	0.016958	T	0.78886	0.4354	M	0.75777	2.31	0.37332	D	0.910021	D;D;D	0.63046	0.992;0.992;0.992	P;P;P	0.58077	0.832;0.832;0.832	T	0.76833	-0.2813	10	0.44086	T	0.13	-9.4591	5.0038	0.14277	0.1399:0.6017:0.0:0.2585	.	526;519;519	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	M	526;178;519;157	ENSP00000378578:L526M;ENSP00000305689:L519M;ENSP00000440843:L157M	ENSP00000305689:L519M	L	+	1	2	AFF1	88254585	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	0.673000	0.25203	0.233000	0.21120	0.561000	0.74099	CTG		0.527	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		20	145	1	0	7.45023e-12	1	7.97024e-12	20	145				
SUGCT	79783	broad.mit.edu	37	7	40498706	40498706	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40498706G>T	ENST00000335693.4	+	11	939	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y|C7orf10_ENST00000309930.5_Missense_Mutation_p.D306Y	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		306					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTAGATCTTGGATTTGCCTGA	0.353																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(916-918)Gat>Tat		chromosome 7 open reading frame 10							44.0	44.0	44.0					7																	40498706		1802	4066	5868	SO:0001583	missense	79783						transferase activity	g.chr7:40498706G>T																												ENST00000335693.4:c.916G>T	7.37:g.40498706G>T	ENSP00000338475:p.Asp306Tyr					C7orf10_ENST00000335693.4_Missense_Mutation_p.D306Y|C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y	p.D306Y	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			11	940	+			306					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.916G>T	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.071975|2.071975	0.36566|0.36566	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	D;T;T|.	0.86694|.	-2.16;0.57;0.57|.	5.27|5.27	4.05|4.05	0.47172|0.47172	CoA-transferase family III domain (2);|.	0.510359|.	0.22065|.	N|.	0.065115|.	T|T	0.56108|0.56108	0.1963|0.1963	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33288|.	0.112;0.099;0.406|.	B;B;B|.	0.39738|.	0.106;0.106;0.308|.	T|T	0.51371|0.51371	-0.8714|-0.8714	10|5	0.87932|.	D|.	0|.	-7.2111|-7.2111	6.9227|6.9227	0.24397|0.24397	0.8767:0.0:0.1233:0.0|0.8767:0.0:0.1233:0.0	.|.	258;306;269|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	Y|C	306;258;306|300	ENSP00000312054:D306Y;ENSP00000385222:D258Y;ENSP00000338475:D306Y|.	ENSP00000312054:D306Y|.	D|W	+|+	1|3	0|0	C7orf10|C7orf10	40465231|40465231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	2.635000|2.635000	0.46537|0.46537	0.856000|0.856000	0.35383|0.35383	-0.345000|-0.345000	0.07892|0.07892	GAT|TGG		0.353	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			26	131	1	0	7.92952e-12	1	8.47903e-12	26	131				
FBXO41	150726	broad.mit.edu	37	2	73486119	73486119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73486119G>A	ENST00000521871.1	-	13	3034	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	FBXO41_ENST00000295133.5_Silent_p.G934G|FBXO41_ENST00000520530.2_Silent_p.G873G			Q8TF61	FBX41_HUMAN	F-box protein 41	873										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GTTAGCAGCCGCCTTCCACCT	0.642																																						ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(2617-2619)ggC>ggT		F-box protein 41							17.0	20.0	19.0					2																	73486119		1875	4063	5938	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73486119G>A	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2619C>T	2.37:g.73486119G>A						FBXO41_ENST00000520530.2_Silent_p.G873G|FBXO41_ENST00000295133.5_Silent_p.G934G	p.G873G			Q8TF61	FBX41_HUMAN			13	3034	-			873					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.2619C>T	CCDS46337.2																																																																																				0.642	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			19	38	0	0	0	1	0	19	38				
SYNDIG1	79953	broad.mit.edu	37	20	24523786	24523786	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24523786A>G	ENST00000376862.3	+	2	686	c.53A>G	c.(52-54)gAt>gGt	p.D18G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	18					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AAAATCAGTGATGCTGGCAAG	0.527																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(52-54)gAt>gGt		synapse differentiation inducing 1							90.0	88.0	89.0					20																	24523786		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523786A>G	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.53A>G	20.37:g.24523786A>G	ENSP00000366058:p.Asp18Gly						p.D18G	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	686	+			18					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.53A>G	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047423	0.55110	.	.	ENSG00000101463	ENST00000376862	D	0.91740	-2.9	5.72	5.72	0.89469	.	0.204676	0.40728	N	0.001033	D	0.87099	0.6093	N	0.22421	0.69	0.58432	D	0.999995	B	0.29531	0.247	B	0.33392	0.163	D	0.86189	0.1611	10	0.87932	D	0	-22.5997	12.3979	0.55395	1.0:0.0:0.0:0.0	.	18	Q9H7V2	SYNG1_HUMAN	G	18	ENSP00000366058:D18G	ENSP00000366058:D18G	D	+	2	0	SYNDIG1	24471786	1.000000	0.71417	0.309000	0.25155	0.865000	0.49528	5.644000	0.67902	2.185000	0.69588	0.533000	0.62120	GAT		0.527	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		96	429	0	0	0	1	0	96	429				
UFM1	51569	broad.mit.edu	37	13	38924138	38924138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924138C>T	ENST00000239878.4	+	2	44	c.5C>T	c.(4-6)tCg>tTg	p.S2L	UFM1_ENST00000379649.1_5'UTR|UFM1_ENST00000379641.1_5'Flank	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	2					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TTCCTCAGGTCGAAGGTTTCC	0.567																																						ENST00000239878.4																			0				lung(2)|ovary(1)	3						c.(4-6)tCg>tTg		ubiquitin-fold modifier 1							148.0	136.0	140.0					13																	38924138		2203	4300	6503	SO:0001583	missense	51569				protein ufmylation	cytoplasm|nucleus	protein binding	g.chr13:38924138C>T	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"""chromosome 13 open reading frame 20"""	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.5C>T	13.37:g.38924138C>T	ENSP00000239878:p.Ser2Leu					UFM1_ENST00000379649.1_5'UTR	p.S2L	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)	2	44	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)	2					Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Missense_Mutation	SNP	ENST00000239878.4	37	c.5C>T	CCDS9366.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224134	0.79576	.	.	ENSG00000120686	ENST00000239878	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.56396	0.1982	.	.	.	0.80722	D	1	D;P	0.55800	0.973;0.843	P;B	0.44561	0.453;0.254	T	0.63220	-0.6686	7	0.87932	D	0	.	13.9271	0.63968	0.0:1.0:0.0:0.0	.	2;2	Q5VXS2;P61960	.;UFM1_HUMAN	L	2	.	ENSP00000239878:S2L	S	+	2	0	UFM1	37822138	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.923000	0.63412	2.648000	0.89879	0.655000	0.94253	TCG		0.567	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	NM_016617		137	528	0	0	0	1	0	137	528				
RPS28	6234	broad.mit.edu	37	19	8386871	8386871	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8386871C>A	ENST00000600659.2	+	3	153	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	NDUFA7_ENST00000301457.2_5'Flank|NDUFA7_ENST00000598884.1_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	41					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										ACGAGCCGATCCATCATCCGC	0.642																																						ENST00000600659.2																			0											c.(121-123)tCc>tAc		ribosomal protein S28							17.0	17.0	17.0					19																	8386871		1911	4118	6029	SO:0001583	missense	6234				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:8386871C>A	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"""S ribosomal proteins"""	10418	protein-coding gene	gene with protein product	"""40S ribosomal protein S28"""	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.122C>A	19.37:g.8386871C>A	ENSP00000472469:p.Ser41Tyr						p.S41Y	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN			3	153	+			41					P25112	Missense_Mutation	SNP	ENST00000600659.2	37	c.122C>A	CCDS45953.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794032	0.70452	.	.	ENSG00000233927	ENST00000417088	.	.	.	5.22	5.22	0.72569	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	B	0.30686	0.29	B	0.36244	0.22	T	0.51260	-0.8728	7	0.23302	T	0.38	.	17.5181	0.87780	0.0:1.0:0.0:0.0	.	41	P62857	RS28_HUMAN	Y	41	.	ENSP00000397872:S41Y	S	+	2	0	RPS28	8292871	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.649000	0.74364	2.720000	0.93068	0.655000	0.94253	TCC		0.642	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	NM_001031		11	46	1	0	0.0135373	1	0.0136081	11	46				
MAP3K8	1326	broad.mit.edu	37	10	30747153	30747153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30747153C>T	ENST00000263056.1	+	7	1710	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	MAP3K8_ENST00000375321.1_Silent_p.S338S|MAP3K8_ENST00000542547.1_Silent_p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTATCCCTCCTACCTGTACA	0.632																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1012-1014)tcC>tcT		mitogen-activated protein kinase kinase kinase 8							40.0	37.0	38.0					10																	30747153		2203	4300	6503	SO:0001819	synonymous_variant	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30747153C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1014C>T	10.37:g.30747153C>T						MAP3K8_ENST00000542547.1_Silent_p.S338S|MAP3K8_ENST00000375321.1_Silent_p.S338S	p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			7	1710	+		Prostate(175;0.151)	338			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	37	c.1014C>T	CCDS7166.1																																																																																				0.632	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		19	206	0	0	0	1	0	19	206				
KRT81	3887	broad.mit.edu	37	12	52685244	52685244	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52685244G>T	ENST00000327741.5	-	1	74	c.6C>A	c.(4-6)acC>acA	p.T2T	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	2	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGATCCGCAGGTCATGATCC	0.647																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(4-6)acC>acA		keratin 81							27.0	31.0	30.0					12																	52685244		2178	4236	6414	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685244G>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.6C>A	12.37:g.52685244G>T						KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	p.T2T	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	74	-			2			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.6C>A	CCDS31805.1																																																																																				0.647	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		22	95	1	0	1.10923e-09	1	1.16946e-09	22	95				
RNF144B	255488	broad.mit.edu	37	6	18439941	18439941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18439941G>A	ENST00000259939.3	+	4	614	c.297G>A	c.(295-297)caG>caA	p.Q99Q	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	99					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTGTGGACCAGTTTCAACTTT	0.378																																						ENST00000259939.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11						c.(295-297)caG>caA		ring finger protein 144B							173.0	157.0	162.0					6																	18439941		2203	4300	6503	SO:0001819	synonymous_variant	255488				apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18439941G>A	AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"""RING-type (C3HC4) zinc fingers"""	21578	protein-coding gene	gene with protein product			"""IBR domain containing 2"""	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.297G>A	6.37:g.18439941G>A						RNF144B_ENST00000429054.2_Intron	p.Q99Q	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)		4	614	+	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	99					B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Silent	SNP	ENST00000259939.3	37	c.297G>A	CCDS34345.1																																																																																				0.378	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039965.2	XM_172581		42	216	0	0	0	1	0	42	216				
ASCC1	51008	broad.mit.edu	37	10	73973061	73973061	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73973061C>T	ENST00000342444.4	-	0	97				ASCC1_ENST00000317168.6_De_novo_Start_OutOfFrame|ASCC1_ENST00000394919.1_De_novo_Start_OutOfFrame|ANAPC16_ENST00000299381.4_5'Flank|ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000394915.3_De_novo_Start_OutOfFrame|ASCC1_ENST00000545550.1_Missense_Mutation_p.S21N|ASCC1_ENST00000317126.4_De_novo_Start_OutOfFrame	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TTCCATGACACTTTCTCCAAA	0.368																																						ENST00000342444.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7								activating signal cointegrator 1 complex subunit 1							116.0	107.0	110.0					10																	73973061		2203	4300	6503			51008				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding	g.chr10:73973061C>T	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.-5G>A	10.37:g.73973061C>T						ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000545550.1_Missense_Mutation_p.S21N|ASCC1_ENST00000394915.3_De_novo_Start_OutOfFrame|ASCC1_ENST00000317126.4_De_novo_Start_OutOfFrame|ASCC1_ENST00000394919.1_De_novo_Start_OutOfFrame|ASCC1_ENST00000317168.6_De_novo_Start_OutOfFrame		NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN			0	97	-								Q5SW06|Q5SW07|Q96EI8|Q9Y307	Translation_Start_Site	SNP	ENST00000342444.4	37		CCDS55713.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228190	0.58777	.	.	ENSG00000138303	ENST00000545550	T	0.32988	1.43	4.86	0.583	0.17417	.	.	.	.	.	T	0.17450	0.0419	.	.	.	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.22765	-1.0207	8	0.42905	T	0.14	.	2.74	0.05251	0.1488:0.5432:0.1443:0.1637	.	21	F5H874	.	N	21	ENSP00000442121:S21N	ENSP00000442121:S21N	S	-	2	0	ASCC1	73643067	0.000000	0.05858	0.010000	0.14722	0.854000	0.48673	-0.140000	0.10342	0.136000	0.18733	0.563000	0.77884	AGT		0.368	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947		57	187	0	0	0	1	0	57	187				
ARHGAP5	394	broad.mit.edu	37	14	32560429	32560429	+	Missense_Mutation	SNP	T	T	C	rs369503160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560429T>C	ENST00000345122.3	+	2	869	c.554T>C	c.(553-555)gTc>gCc	p.V185A	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	185					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AACCTTTTTGTCCAGTTATCA	0.328																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(553-555)gTc>gCc		Rho GTPase activating protein 5							65.0	66.0	66.0					14																	32560429		2202	4296	6498	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560429T>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.554T>C	14.37:g.32560429T>C	ENSP00000371897:p.Val185Ala					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A	p.V185A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	869	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		185					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.554T>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	3.162	-0.171826	0.06421	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.78	5.78	0.91487	.	0.179418	0.47852	D	0.000212	T	0.43277	0.1240	N	0.01668	-0.77	0.30798	N	0.740217	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41324	-0.9515	10	0.07325	T	0.83	.	10.4499	0.44516	0.0:0.0724:0.0:0.9276	.	185;185	Q13017-2;Q13017	.;RHG05_HUMAN	A	185	ENSP00000452222:V185A;ENSP00000441692:V185A;ENSP00000371897:V185A;ENSP00000393307:V185A	ENSP00000371897:V185A	V	+	2	0	ARHGAP5	31630180	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.662000	0.61525	2.194000	0.70268	0.533000	0.62120	GTC		0.328	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		106	364	0	0	0	1	0	106	364				
SOGA3	387104	broad.mit.edu	37	6	127796902	127796902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127796902C>T	ENST00000525778.1	-	6	3014	c.2269G>A	c.(2269-2271)Gcg>Acg	p.A757T	SOGA3_ENST00000481848.2_Missense_Mutation_p.A757T|SOGA3_ENST00000556132.1_Missense_Mutation_p.A757T|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757T			Q5TF21	SOGA3_HUMAN	SOGA family member 3	757					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTCTTGCCCGCGTCGCTCTCG	0.697																																						ENST00000556132.1																			0											c.(2269-2271)Gcg>Acg		SOGA family member 3							39.0	46.0	44.0					6																	127796902		2129	4230	6359	SO:0001583	missense	387104					integral to membrane		g.chr6:127796902C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2269G>A	6.37:g.127796902C>T	ENSP00000434570:p.Ala757Thr					SOGA3_ENST00000465909.2_Missense_Mutation_p.A757T|SOGA3_ENST00000525778.1_Missense_Mutation_p.A757T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757T|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757T	p.A757T	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3133	-			757						Missense_Mutation	SNP	ENST00000525778.1	37	c.2269G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066637	0.55539	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	4.41	0.53225	.	0.285709	0.38005	N	0.001858	T	0.12390	0.0301	L	0.33245	0.995	0.48762	D	0.999704	B	0.30236	0.274	B	0.28232	0.087	T	0.03795	-1.1003	10	0.41790	T	0.15	-8.9632	13.665	0.62389	0.0:0.9257:0.0:0.0743	.	757	Q5TF21	CF174_HUMAN	T	757	ENSP00000451768:A757T;ENSP00000357251:A757T;ENSP00000434570:A757T;ENSP00000435559:A757T	ENSP00000435559:A757T	A	-	1	0	C6orf174	127838595	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	3.092000	0.50207	1.234000	0.43709	0.462000	0.41574	GCG		0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		121	498	0	0	0	1	0	121	498				
TMPO	7112	broad.mit.edu	37	12	98927591	98927591	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98927591A>G	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Missense_Mutation_p.K519R|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGGCATGCAAATATCCAGTT	0.413																																						ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1555-1557)aAa>aGa		thymopoietin							49.0	53.0	52.0					12																	98927591		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927591A>G		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1975A>G	12.37:g.98927591A>G						TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron	p.K519R	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1794	+			0					A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1556A>G	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	A	1.291	-0.607591	0.03717	.	.	ENSG00000120802	ENST00000266732	T	0.55234	0.53	5.65	0.434	0.16539	.	0.623617	0.17133	N	0.185749	T	0.28466	0.0704	N	0.12182	0.205	0.51767	D	0.999932	B	0.15473	0.013	B	0.20955	0.032	T	0.13045	-1.0524	10	0.08381	T	0.77	-5.1403	10.0084	0.41970	0.7043:0.0:0.2957:0.0	.	519	P42166	LAP2A_HUMAN	R	519	ENSP00000266732:K519R	ENSP00000266732:K519R	K	+	2	0	TMPO	97451722	0.988000	0.35896	0.331000	0.25455	0.324000	0.28378	0.265000	0.18515	-0.348000	0.08286	-1.162000	0.01777	AAA		0.413	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		64	292	0	0	0	1	0	64	292				
MAB21L1	4081	broad.mit.edu	37	13	36049526	36049526	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049526G>A	ENST00000379919.4	-	1	1306	c.750C>T	c.(748-750)tgC>tgT	p.C250C	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	250					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGATGGAGAGGCACTTCTTTC	0.567																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(748-750)tgC>tgT		mab-21-like 1 (C. elegans)							77.0	82.0	80.0					13																	36049526		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049526G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.750C>T	13.37:g.36049526G>A						NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.C250C	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1306	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	250					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.750C>T	CCDS9353.1																																																																																				0.567	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		70	454	0	0	0	1	0	70	454				
MIS18A	54069	broad.mit.edu	37	21	33642728	33642728	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33642728C>A	ENST00000290130.3	-	3	568	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	172					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CTTTCAATGGCTTCAACACTG	0.413																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(514-516)Gcc>Tcc		MIS18 kinetochore protein A							86.0	77.0	80.0					21																	33642728		2203	4300	6503	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33642728C>A	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.514G>T	21.37:g.33642728C>A	ENSP00000290130:p.Ala172Ser					MIS18A_ENST00000486363.1_5'UTR	p.A172S	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			3	568	-			172					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.514G>T	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002942	0.35320	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.78	4.82	0.62117	.	0.134114	0.50627	D	0.000119	T	0.45637	0.1352	L	0.47016	1.485	0.32361	N	0.557132	B	0.32324	0.364	B	0.34722	0.188	T	0.52480	-0.8570	9	0.21540	T	0.41	-11.8678	12.8034	0.57598	0.174:0.826:0.0:0.0	.	172	Q9NYP9	MS18A_HUMAN	S	172	.	ENSP00000290130:A172S	A	-	1	0	MIS18A	32564599	0.732000	0.28121	0.998000	0.56505	0.909000	0.53808	1.096000	0.30976	2.724000	0.93272	0.555000	0.69702	GCC		0.413	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		19	172	1	0	4.35082e-09	1	4.56966e-09	19	172				
PGBD4	161779	broad.mit.edu	37	15	34395249	34395249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395249C>T	ENST00000397766.2	+	1	976	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	173										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GAAACCTGAGCTGGAGATGTT	0.398																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(517-519)Ctg>Ttg		piggyBac transposable element derived 4							104.0	101.0	102.0					15																	34395249		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34395249C>T	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.517C>T	15.37:g.34395249C>T							p.L173L	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	976	+		all_lung(180;1.76e-08)	173					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.517C>T	CCDS10033.1																																																																																				0.398	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			14	413	0	0	0	1	0	14	413				
SEC23IP	11196	broad.mit.edu	37	10	121692664	121692664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692664G>A	ENST00000369075.3	+	17	2978	c.2906G>A	c.(2905-2907)aGt>aAt	p.S969N	SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	969	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCTCTTCAGAGTCACTTATGC	0.373																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(2905-2907)aGt>aAt		SEC23 interacting protein							128.0	125.0	126.0					10																	121692664		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121692664G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2906G>A	10.37:g.121692664G>A	ENSP00000358071:p.Ser969Asn					SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N	p.S969N	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	17	2978	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	969			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2906G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670203	0.88348	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.44881	0.91;0.99	5.28	5.28	0.74379	DDHD (2);	0.038155	0.85682	D	0.000000	T	0.74160	0.3680	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81031	-0.1117	10	0.87932	D	0	-16.7504	19.2611	0.93968	0.0:0.0:1.0:0.0	.	758;969	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	N	969;758	ENSP00000358071:S969N;ENSP00000438773:S758N	ENSP00000358071:S969N	S	+	2	0	SEC23IP	121682654	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.296000	0.72751	2.625000	0.88918	0.655000	0.94253	AGT		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			69	329	0	0	0	1	0	69	329				
NBEA	26960	broad.mit.edu	37	13	35630181	35630181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35630181G>A	ENST00000400445.3	+	7	1541	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NBEA_ENST00000540320.1_Missense_Mutation_p.R336Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	336					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTACAATCGATGGAGGAAC	0.308																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1006-1008)cGa>cAa		neurobeachin							213.0	187.0	195.0					13																	35630181		1857	4095	5952	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35630181G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1007G>A	13.37:g.35630181G>A	ENSP00000383295:p.Arg336Gln					NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q|NBEA_ENST00000400445.3_Missense_Mutation_p.R336Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q	p.R336Q			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	7	1541	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	336					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1007G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323043	0.95708	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.78117	0.4233	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79605	-0.1734	10	0.52906	T	0.07	.	18.0165	0.89242	0.0:0.0:1.0:0.0	.	336	Q5T321	.	Q	336	ENSP00000440951:R336Q;ENSP00000383295:R336Q;ENSP00000369271:R336Q;ENSP00000308534:R336Q	ENSP00000308534:R336Q	R	+	2	0	NBEA	34528181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.266000	0.75297	0.563000	0.77884	CGA		0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		64	249	0	0	0	1	0	64	249				
HELB	92797	broad.mit.edu	37	12	66700219	66700219	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66700219G>T	ENST00000247815.4	+	3	761	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	234					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGATCATAGGGTCAGGTTCTA	0.363																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(700-702)ggG>ggT		helicase (DNA) B							116.0	120.0	118.0					12																	66700219		2203	4300	6503	SO:0001819	synonymous_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66700219G>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.702G>T	12.37:g.66700219G>T							p.G234G	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	3	761	+			234					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.702G>T	CCDS8976.1																																																																																				0.363	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			68	406	1	0	4.29146e-36	1	5.13238e-36	68	406				
VPS13D	55187	broad.mit.edu	37	1	12374263	12374263	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12374263G>A	ENST00000358136.3	+	30	7157	c.7027G>A	c.(7027-7029)Gac>Aac	p.D2343N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGGCTTTTGACACCCGTTA	0.458																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7027-7029)Gac>Aac		vacuolar protein sorting 13 homolog D (S. cerevisiae)							93.0	90.0	91.0					1																	12374263		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12374263G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7027G>A	1.37:g.12374263G>A	ENSP00000350854:p.Asp2343Asn					VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	p.D2343N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	30	7157	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2343						Missense_Mutation	SNP	ENST00000358136.3	37	c.7027G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356181	0.95854	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44881	0.91;0.91	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.71034	-0.4709	10	0.66056	D	0.02	.	19.2035	0.93720	0.0:0.0:1.0:0.0	.	250;2343;2343	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	N	2343	ENSP00000348666:D2343N;ENSP00000350854:D2343N	ENSP00000348666:D2343N	D	+	1	0	VPS13D	12296850	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.476000	0.97823	2.527000	0.85204	0.561000	0.74099	GAC		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		23	204	0	0	0	1	0	23	204				
FGF23	8074	broad.mit.edu	37	12	4488548	4488548	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4488548C>A	ENST00000237837.1	-	1	346	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTAGATGGTCTGATGGGGTG	0.592																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(199-201)caG>caT		fibroblast growth factor 23							159.0	123.0	135.0					12																	4488548		2203	4300	6503	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4488548C>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.201G>T	12.37:g.4488548C>A	ENSP00000237837:p.Gln67His						p.Q67H	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		1	346	-			67					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.201G>T	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238805	0.58995	.	.	ENSG00000118972	ENST00000237837	D	0.81579	-1.51	4.03	4.03	0.46877	.	0.175652	0.50627	D	0.000112	T	0.78117	0.4233	L	0.29908	0.895	0.40241	D	0.977963	D	0.71674	0.998	D	0.64144	0.922	T	0.75703	-0.3225	10	0.34782	T	0.22	-12.1447	4.8028	0.13305	0.0:0.7419:0.0:0.2581	.	67	Q9GZV9	FGF23_HUMAN	H	67	ENSP00000237837:Q67H	ENSP00000237837:Q67H	Q	-	3	2	FGF23	4358809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.843000	0.39259	2.532000	0.85374	0.655000	0.94253	CAG		0.592	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			72	474	1	0	7.62596e-35	1	9.08233e-35	72	474				
WASF3	10810	broad.mit.edu	37	13	27255212	27255212	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27255212G>A	ENST00000335327.5	+	8	916	c.738G>A	c.(736-738)acG>acA	p.T246T	WASF3_ENST00000361042.4_Silent_p.T243T	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	246					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGGACGTTACGGATTACTCTT	0.498																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(727-729)acG>acA		WAS protein family, member 3							87.0	97.0	94.0					13																	27255212		2203	4300	6503	SO:0001819	synonymous_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255212G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.738G>A	13.37:g.27255212G>A						WASF3_ENST00000335327.5_Silent_p.T246T	p.T243T			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	954	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	246					O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	c.729G>A	CCDS9318.1																																																																																				0.498	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			140	624	0	0	0	1	0	140	624				
GNA11	2767	broad.mit.edu	37	19	3121121	3121121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3121121G>A	ENST00000078429.4	+	7	1266	c.1024G>A	c.(1024-1026)Gcg>Acg	p.A342T	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	342					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCGTGTTCGCGGCCGTGAA	0.597			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(1024-1026)Gcg>Acg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							88.0	58.0	68.0					19																	3121121		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3121121G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.1024G>A	19.37:g.3121121G>A	ENSP00000078429:p.Ala342Thr					AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.A342T	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	7	1266	+		Hepatocellular(1079;0.137)	342					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.1024G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519968	0.44866	.	.	ENSG00000088256	ENST00000078429	D	0.89485	-2.52	3.45	3.45	0.39498	.	0.000000	0.53938	D	0.000051	D	0.87241	0.6128	M	0.65498	2.005	0.46564	D	0.999102	B	0.14805	0.011	B	0.17433	0.018	D	0.85982	0.1483	10	0.52906	T	0.07	.	13.6444	0.62272	0.0:0.0:1.0:0.0	.	342	P29992	GNA11_HUMAN	T	342	ENSP00000078429:A342T	ENSP00000078429:A342T	A	+	1	0	GNA11	3072121	1.000000	0.71417	0.951000	0.38953	0.972000	0.66771	4.927000	0.63440	1.773000	0.52216	0.561000	0.74099	GCG		0.597	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		42	187	0	0	0	1	0	42	187				
LHX3	8022	broad.mit.edu	37	9	139090800	139090800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139090800C>T	ENST00000371748.5	-	4	656	c.560G>A	c.(559-561)cGc>cAc	p.R187H	LHX3_ENST00000371746.3_Missense_Mutation_p.R192H	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	187					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GAGCTGCTCGCGCACGTGGCG	0.726																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(574-576)cGc>cAc		LIM homeobox 3							15.0	17.0	16.0					9																	139090800		2188	4278	6466	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090800C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.560G>A	9.37:g.139090800C>T	ENSP00000360813:p.Arg187His					LHX3_ENST00000371748.5_Missense_Mutation_p.R187H	p.R192H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	4	693	-		Myeloproliferative disorder(178;0.0511)	187					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.575G>A	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323870	0.95708	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.97529	-4.42;-4.41	3.81	3.81	0.43845	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.068967	0.64402	D	0.000012	D	0.99064	0.9679	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98847	1.0757	10	0.87932	D	0	.	14.8468	0.70267	0.0:1.0:0.0:0.0	.	187;192	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	187;192;190	ENSP00000360813:R187H;ENSP00000360811:R192H	ENSP00000319224:R190H	R	-	2	0	LHX3	138230621	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.084000	0.76866	1.959000	0.56917	0.555000	0.69702	CGC		0.726	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			15	68	0	0	0	1	0	15	68				
ATP5B	506	broad.mit.edu	37	12	57032949	57032949	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57032949T>C	ENST00000262030.3	-	9	1480	c.1430A>G	c.(1429-1431)cAt>cGt	p.H477R	BAZ2A_ENST00000179765.5_5'Flank|BAZ2A_ENST00000379441.3_5'Flank|BAZ2A_ENST00000551812.1_5'Flank|ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	477					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCCCCATATGACCTGTGAA	0.468																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1429-1431)cAt>cGt		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							166.0	157.0	160.0					12																	57032949		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57032949T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1430A>G	12.37:g.57032949T>C	ENSP00000262030:p.His477Arg					ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R	p.H477R	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			9	1480	-			477					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1430A>G	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310785	0.60414	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104	T;T;T	0.76060	-0.99;-0.99;-0.99	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	N	0.20445	0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55995	-0.8052	10	0.24483	T	0.36	-13.3117	15.1371	0.72576	0.0:0.0:0.0:1.0	.	477	P06576	ATPB_HUMAN	R	477;466;180	ENSP00000262030:H477R;ENSP00000450297:H466R;ENSP00000450233:H180R	ENSP00000262030:H477R	H	-	2	0	ATP5B	55319216	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	7.872000	0.87187	2.221000	0.72209	0.529000	0.55759	CAT		0.468	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		130	581	0	0	0	1	0	130	581				
FLNC	2318	broad.mit.edu	37	7	128494556	128494556	+	Missense_Mutation	SNP	G	G	A	rs372251350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128494556G>A	ENST00000325888.8	+	41	7078	c.6817G>A	c.(6817-6819)Gcc>Acc	p.A2273T	FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2273					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGAGGACAGCGCCTACAGCGT	0.632																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6817-6819)Gcc>Acc		filamin C, gamma		G	THR/ALA,THR/ALA	0,4334		0,0,2167	24.0	30.0	28.0		6718,6817	5.0	0.7	7		28	2,8514		0,2,4256	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	58,58	0,2,6423	AA,AG,GG		0.0235,0.0,0.0156	benign,benign	2240/2693,2273/2726	128494556	2,12848	2167	4258	6425	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494556G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6817G>A	7.37:g.128494556G>A	ENSP00000327145:p.Ala2273Thr					FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T|RP11-309L24.2_ENST00000469965.1_RNA	p.A2273T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			41	7078	+			2273					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6817G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615827	0.28801	0.0	2.35E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.80653	-1.4;-1.4	4.99	4.99	0.66335	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059482	0.64402	D	0.000002	T	0.47173	0.1431	N	0.00321	-1.65	0.42726	D	0.993695	B;B	0.12630	0.004;0.006	B;B	0.11329	0.003;0.006	T	0.51896	-0.8647	10	0.30854	T	0.27	.	8.8771	0.35352	0.1742:0.0:0.8258:0.0	.	2240;2273	Q14315-2;Q14315	.;FLNC_HUMAN	T	2273;2240	ENSP00000327145:A2273T;ENSP00000344002:A2240T	ENSP00000327145:A2273T	A	+	1	0	FLNC	128281792	0.966000	0.33281	0.698000	0.30274	0.926000	0.56050	2.589000	0.46145	2.301000	0.77427	0.655000	0.94253	GCC		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			19	48	0	0	0	1	0	19	48				
ZNF683	257101	broad.mit.edu	37	1	26694242	26694242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26694242C>T	ENST00000436292.1	-	3	281	c.161G>A	c.(160-162)gGc>gAc	p.G54D	ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D|ZNF683_ENST00000349618.3_Missense_Mutation_p.G54D|ZNF683_ENST00000403843.1_Missense_Mutation_p.G54D			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	54					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-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;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACAGGATGGGCCATGAGCATC	0.652																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(160-162)gGc>gAc		zinc finger protein 683							28.0	25.0	26.0					1																	26694242		2203	4298	6501	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26694242C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.161G>A	1.37:g.26694242C>T	ENSP00000388792:p.Gly54Asp					ZNF683_ENST00000349618.3_Missense_Mutation_p.G54D|ZNF683_ENST00000403843.1_Missense_Mutation_p.G54D|ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D	p.G54D			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	3	281	-		all_cancers(24;2.39e-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)	54					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.161G>A		.	.	.	.	.	.	.	.	.	.	C	15.54	2.863087	0.51482	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T	0.20738	3.28;3.28;3.22;3.22;2.39;2.39;2.05;2.06	4.27	2.24	0.28232	.	0.199248	0.25112	N	0.033056	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	P;B	0.36587	0.559;0.423	B;B	0.34931	0.192;0.094	T	0.18398	-1.0338	10	0.21540	T	0.41	-6.8636	5.184	0.15174	0.0:0.667:0.2116:0.1214	.	54;54	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	D	54;54;54;54;62;54;62;54	ENSP00000384782:G54D;ENSP00000388792:G54D;ENSP00000363320:G54D;ENSP00000344095:G54D;ENSP00000411289:G62D;ENSP00000411290:G54D;ENSP00000391584:G62D;ENSP00000401961:G54D	ENSP00000344095:G54D	G	-	2	0	ZNF683	26566829	0.001000	0.12720	0.047000	0.18901	0.678000	0.39670	0.021000	0.13489	0.993000	0.38866	0.462000	0.41574	GGC		0.652	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		6	68	0	0	0	1	0	6	68				
ARHGEF5	7984	broad.mit.edu	37	7	144060720	144060720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144060720C>T	ENST00000056217.5	+	2	1132	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	320					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCAGGGAGGTCCAGAACAGGG	0.542																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(958-960)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 5							62.0	56.0	58.0					7																	144060720		1475	3022	4497	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060720C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.958C>T	7.37:g.144060720C>T	ENSP00000056217:p.Pro320Ser						p.P320S	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	1132	+	Melanoma(164;0.14)		320					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.958C>T	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	4.789	0.146640	0.09134	.	.	ENSG00000050327	ENST00000056217	T	0.71698	-0.59	4.05	2.07	0.26955	.	2.529770	0.02386	U	0.079234	T	0.57359	0.2048	N	0.24115	0.695	0.20764	N	0.999857	B	0.11235	0.004	B	0.14023	0.01	T	0.39881	-0.9592	9	.	.	.	3.0887	6.5054	0.22192	0.0:0.7041:0.1844:0.1116	.	320	Q12774	ARHG5_HUMAN	S	320	ENSP00000056217:P320S	.	P	+	1	0	ARHGEF5	143691653	0.000000	0.05858	0.001000	0.08648	0.282000	0.26991	-0.155000	0.10115	0.883000	0.36040	0.555000	0.69702	CCA		0.542	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		77	953	0	0	0	1	0	77	953				
AXL	558	broad.mit.edu	37	19	41748838	41748838	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41748838C>A	ENST00000301178.4	+	11	1553	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	AXL_ENST00000593513.1_Missense_Mutation_p.L187I|AXL_ENST00000359092.3_Missense_Mutation_p.L446I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	455					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTATGTACTGCTAGGAGCAGT	0.552																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1363-1365)Cta>Ata		AXL receptor tyrosine kinase							147.0	116.0	126.0					19																	41748838		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41748838C>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1363C>A	19.37:g.41748838C>A	ENSP00000301178:p.Leu455Ile					AXL_ENST00000593513.1_Missense_Mutation_p.L187I|AXL_ENST00000359092.3_Missense_Mutation_p.L446I	p.L455I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			11	1553	+			455					Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1363C>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.283015	0.40394	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75154	-0.91;-0.83	4.49	3.45	0.39498	.	0.074392	0.56097	D	0.000040	T	0.62183	0.2407	L	0.55990	1.75	0.35301	D	0.783036	P;P	0.38395	0.629;0.495	B;B	0.32805	0.153;0.073	T	0.65084	-0.6254	10	0.25751	T	0.34	-12.7963	7.5165	0.27604	0.1645:0.7444:0.0:0.0912	.	446;455	P30530-2;P30530	.;UFO_HUMAN	I	455;446	ENSP00000301178:L455I;ENSP00000351995:L446I	ENSP00000301178:L455I	L	+	1	2	AXL	46440678	0.995000	0.38212	1.000000	0.80357	0.884000	0.51177	1.972000	0.40540	0.995000	0.38917	0.650000	0.86243	CTA		0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			97	399	1	0	6.42612e-47	1	7.90343e-47	97	399				
OPCML	4978	broad.mit.edu	37	11	132812820	132812820	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812820C>T	ENST00000331898.7	-	1	746		c.e1+1		OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000524381.1_Splice_Site|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCTCCCTACCTGAGGGTGG	0.682																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.e1+1		opioid binding protein/cell adhesion molecule-like							66.0	67.0	66.0					11																	132812820		2201	4297	6498	SO:0001630	splice_region_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812820C>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.167+1G>A	11.37:g.132812820C>T						OPCML_ENST00000524381.1_Splice_Site|OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000529038.1_Intron		NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	1	746	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)						B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Splice_Site	SNP	ENST00000331898.7	37		CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659011	0.88154	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPCML	132318030	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.398000	0.79919	2.707000	0.92482	0.655000	0.94253	.		0.682	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	Intron	64	388	0	0	0	1	0	64	388				
TFCP2	7024	broad.mit.edu	37	12	51566352	51566352	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51566352G>T	ENST00000257915.5	-	0	312				TFCP2_ENST00000307660.4_De_novo_Start_InFrame|TFCP2_ENST00000548115.1_De_novo_Start_InFrame|TFCP2_ENST00000549867.1_Intron	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGCCCGACCAGCACTGCTCTG	0.577																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23								transcription factor CP2																																						7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51566352G>T	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621		12.37:g.51566352G>T						TFCP2_ENST00000548115.1_De_novo_Start_InFrame|TFCP2_ENST00000257915.5_De_novo_Start_InFrame|TFCP2_ENST00000549867.1_Intron		NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			0	574	-								A8K5E9|Q12801|Q9UD75|Q9UD77	Translation_Start_Site	SNP	ENST00000257915.5	37		CCDS8808.1																																																																																				0.577	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		16	44	1	0	6.72482e-11	1	7.15107e-11	16	44				
CCT7	10574	broad.mit.edu	37	2	73476192	73476192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73476192C>T	ENST00000258091.5	+	8	998	c.857C>T	c.(856-858)gCc>gTc	p.A286V	CCT7_ENST00000539919.1_Missense_Mutation_p.A242V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	286					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CATTCTGGAGCCAAAGTTGTC	0.483																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(724-726)gCc>gTc		chaperonin containing TCP1, subunit 7 (eta)							105.0	101.0	102.0					2																	73476192		1945	4140	6085	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73476192C>T	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.857C>T	2.37:g.73476192C>T	ENSP00000258091:p.Ala286Val					CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000258091.5_Missense_Mutation_p.A286V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V	p.A242V	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			9	1096	+			286					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.725C>T	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514495	0.85389	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	M	0.71920	2.185	0.80722	D	1	P;D;P;D;B;D	0.61697	0.495;0.971;0.845;0.99;0.02;0.963	B;P;B;P;B;P	0.62014	0.209;0.668;0.399;0.897;0.046;0.809	D	0.86972	0.2098	10	0.59425	D	0.04	-18.3614	16.9294	0.86186	0.0:1.0:0.0:0.0	.	199;158;186;244;82;286	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	V	199;242;286;82;186;158;244	ENSP00000442058:A199V;ENSP00000437824:A242V;ENSP00000258091:A286V;ENSP00000381456:A82V;ENSP00000444379:A186V;ENSP00000438462:A158V	ENSP00000258091:A286V	A	+	2	0	CCT7	73329700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.599000	0.82757	2.671000	0.90904	0.455000	0.32223	GCC		0.483	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			10	276	0	0	0	1	0	10	276				
SLC52A2	79581	broad.mit.edu	37	8	145583671	145583671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145583671G>A	ENST00000532887.1	+	3	1102	c.519G>A	c.(517-519)ccG>ccA	p.P173P	SLC52A2_ENST00000329994.2_Silent_p.P173P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.P173P|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Silent_p.P173P|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000527078.1_Silent_p.P173P|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Silent_p.P85P			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	173					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TCGAGTGCCCGCCAGCCCCCA	0.657																																						ENST00000532887.1																			0											c.(517-519)ccG>ccA		solute carrier family 52 (riboflavin transporter), member 2							54.0	62.0	59.0					8																	145583671		2203	4299	6502	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583671G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.519G>A	8.37:g.145583671G>A						SLC52A2_ENST00000402965.1_Silent_p.P173P|SLC52A2_ENST00000329994.2_Silent_p.P173P|SLC52A2_ENST00000527078.1_Silent_p.P173P|SLC52A2_ENST00000540505.1_Silent_p.P85P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.P173P	p.P173P			Q9HAB3	RFT3_HUMAN			3	1102	+			173					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.519G>A	CCDS6423.1																																																																																				0.657	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		156	572	0	0	0	1	0	156	572				
WFIKKN2	124857	broad.mit.edu	37	17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T	rs372115241		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48917794C>T	ENST00000311378.4	+	2	1673	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	382					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1144-1146)cCg>cTg		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			LEU/PRO	0,4406		0,0,2203	42.0	40.0	41.0		1145	5.1	0.9	17		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	WFIKKN2	NM_175575.5	98	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	382/577	48917794	1,13001	2203	4298	6501	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917794C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1145C>T	17.37:g.48917794C>T	ENSP00000311184:p.Pro382Leu					RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L	p.P382L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1673	+			382					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1145C>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421460	0.42918	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	D;D	0.82619	-1.63;-1.61	5.12	5.12	0.69794	Proteinase inhibitor I2, Kunitz metazoa (1);	0.121420	0.64402	D	0.000019	T	0.77287	0.4108	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.71155	-0.4675	10	0.25106	T	0.35	.	18.5566	0.91088	0.0:1.0:0.0:0.0	.	382	Q8TEU8	WFKN2_HUMAN	L	289;382;88	ENSP00000405889:P289L;ENSP00000311184:P382L	ENSP00000311184:P382L	P	+	2	0	WFIKKN2	46272793	0.998000	0.40836	0.893000	0.35052	0.976000	0.68499	6.007000	0.70731	2.361000	0.80049	0.556000	0.70494	CCG		0.652	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		59	355	0	0	0	1	0	59	355				
ARHGEF1	9138	broad.mit.edu	37	19	42396876	42396876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42396876G>T	ENST00000354532.3	+	7	718	c.570G>T	c.(568-570)gaG>gaT	p.E190D	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E190D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	190	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGGCCCGGGAGCGGCACGTGG	0.701																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(568-570)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 1							14.0	17.0	16.0					19																	42396876		2196	4288	6484	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396876G>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.570G>T	19.37:g.42396876G>T	ENSP00000346532:p.Glu190Asp					ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E190D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D	p.E190D			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	7	695	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	190			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.570G>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641038	0.67244	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.32	-0.579	0.11720	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.139750	0.45126	N	0.000394	D	0.90456	0.7011	M	0.76838	2.35	0.36530	D	0.870656	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.998;0.999	D;D;D;D;D	0.83275	0.996;0.99;0.987;0.954;0.994	D	0.87937	0.2714	10	0.52906	T	0.07	-23.3088	5.5374	0.17020	0.2854:0.1504:0.5642:0.0	.	172;205;157;190;250	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	D	190;157;226;205;172	ENSP00000346532:E190D;ENSP00000344429:E157D;ENSP00000337261:E205D;ENSP00000367394:E172D	ENSP00000323044:E226D	E	+	3	2	ARHGEF1	47088716	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	1.784000	0.38674	0.059000	0.16252	0.306000	0.20318	GAG		0.701	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		27	99	1	0	2.48779e-11	1	2.65321e-11	27	99				
CA6	765	broad.mit.edu	37	1	9011647	9011647	+	Intron	SNP	G	G	A	rs572842220		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9011647G>A	ENST00000377443.2	+	2	263				CA6_ENST00000377436.3_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000480186.3_Missense_Mutation_p.R142H	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGCGGGCTTCGTGCTGAGGGC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		14121	0.0		0.0	False		,,,				2504	0.001					ENST00000319474.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(424-426)cGt>cAt		carbonic anhydrase VI							45.0	42.0	43.0					1																	9011647		876	1991	2867	SO:0001627	intron_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9011647G>A	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.259+2146G>A	1.37:g.9011647G>A						CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron	p.R142H			P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	3	449	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.425G>A	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059980	0.19987	.	.	ENSG00000131686	ENST00000319474	T	0.35236	1.32	0.839	-1.45	0.08828	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34601	-0.9822	6	0.66056	D	0.02	.	2.4411	0.04494	0.2516:0.3233:0.4251:0.0	.	.	.	.	H	142	ENSP00000325786:R142H	ENSP00000325786:R142H	R	+	2	0	CA6	8934234	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.567000	0.05916	-0.590000	0.05866	-0.553000	0.04205	CGT		0.592	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			17	127	0	0	0	1	0	17	127				
USH2A	7399	broad.mit.edu	37	1	215820899	215820899	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215820899G>T	ENST00000307340.3	-	67	15142	c.14756C>A	c.(14755-14757)gCt>gAt	p.A4919D	USH2A_ENST00000366943.2_Missense_Mutation_p.A4919D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4919	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCACTCGGAAGCCGTACTGCC	0.542										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14755-14757)gCt>gAt		Usher syndrome 2A (autosomal recessive, mild)							97.0	79.0	85.0					1																	215820899		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215820899G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14756C>A	1.37:g.215820899G>T	ENSP00000305941:p.Ala4919Asp	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.A4919D	p.A4919D			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	67	15142	-			4919			Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14756C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468541	0.84533	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.62	4.71	0.59529	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.159701	0.28889	N	0.013817	T	0.71143	0.3305	M	0.82517	2.595	0.54753	D	0.99998	D	0.56968	0.978	D	0.63283	0.913	T	0.72544	-0.4261	10	0.34782	T	0.22	.	14.2275	0.65871	0.0719:0.0:0.9281:0.0	.	4919	O75445	USH2A_HUMAN	D	4919	ENSP00000305941:A4919D;ENSP00000355910:A4919D	ENSP00000305941:A4919D	A	-	2	0	USH2A	213887522	1.000000	0.71417	0.644000	0.29465	0.966000	0.64601	5.161000	0.64935	1.385000	0.46445	0.650000	0.86243	GCT		0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	301	1	0	8.00594e-06	1	8.21907e-06	19	301				
SNX24	28966	broad.mit.edu	37	5	122337670	122337670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122337670G>T	ENST00000261369.4	+	6	598	c.413G>T	c.(412-414)aGg>aTg	p.R138M	SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000506996.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	138					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CTGTTCCTCAGGGATCCATAT	0.483																																						ENST00000261369.4																			0				lung(5)	5						c.(412-414)aGg>aTg		sorting nexin 24							174.0	151.0	159.0					5																	122337670		2203	4300	6503	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122337670G>T	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.413G>T	5.37:g.122337670G>T	ENSP00000261369:p.Arg138Met					SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M|SNX24_ENST00000506996.1_Missense_Mutation_p.R138M	p.R138M	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	6	598	+		Prostate(80;0.0387)	138					Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.413G>T	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878300	0.72294	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T	0.64803	-0.08;-0.12;-0.12	5.86	5.86	0.93980	.	0.038056	0.85682	D	0.000000	T	0.73125	0.3547	L	0.39397	1.21	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	P;D	0.66847	0.839;0.947	T	0.69654	-0.5087	10	0.42905	T	0.14	-16.5217	20.5632	0.99335	0.0:0.0:1.0:0.0	.	138;138	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	M	138;138;171;138	ENSP00000261369:R138M;ENSP00000424149:R138M;ENSP00000422535:R138M	ENSP00000261369:R138M	R	+	2	0	SNX24	122365569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.616000	0.90924	2.937000	0.99478	0.650000	0.86243	AGG		0.483	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		25	601	1	0	1.77063e-15	1	1.9355e-15	25	601				
HUWE1	10075	broad.mit.edu	37	X	53575044	53575044	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53575044T>A	ENST00000342160.3	-	67	10683	c.10226A>T	c.(10225-10227)aAg>aTg	p.K3409M	HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3409					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGCACTGACTTCACGGAGTT	0.547																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(10225-10227)aAg>aTg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							65.0	51.0	56.0					X																	53575044		2203	4299	6502	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53575044T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10226A>T	X.37:g.53575044T>A	ENSP00000340648:p.Lys3409Met					HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M	p.K3409M			Q7Z6Z7	HUWE1_HUMAN			67	10683	-			3409					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10226A>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.07|13.07	2.128357|2.128357	0.37533|0.37533	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.41065	.|1.01;1.01	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.436137	.|0.19696	.|N	.|0.108158	T|T	0.60547|0.60547	0.2277|0.2277	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.984;0.993	T|T	0.62774|0.62774	-0.6783|-0.6783	5|10	.|0.72032	.|D	.|0.01	.|.	13.5123|13.5123	0.61519|0.61519	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3409;3393	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	D|M	2442;246|3409	.|ENSP00000340648:K3409M;ENSP00000262854:K3409M	.|ENSP00000262854:K3409M	E|K	-|-	3|2	2|0	HUWE1|HUWE1	53591769|53591769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.307000|5.307000	0.65762|0.65762	1.834000|1.834000	0.53371|0.53371	0.425000|0.425000	0.28330|0.28330	GAA|AAG		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		29	70	0	0	0	1	0	29	70				
PARP9	83666	broad.mit.edu	37	3	122274783	122274783	+	Missense_Mutation	SNP	G	G	T	rs368788105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122274783G>T	ENST00000360356.2	-	4	567	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	PARP9_ENST00000477522.2_Missense_Mutation_p.L79M|PARP9_ENST00000462315.1_Missense_Mutation_p.L79M|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	114	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTAGGAGTCAGCATTTTTCTG	0.473																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(235-237)Ctg>Atg		poly (ADP-ribose) polymerase family, member 9							96.0	83.0	87.0					3																	122274783		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274783G>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.340C>A	3.37:g.122274783G>T	ENSP00000353512:p.Leu114Met					PARP9_ENST00000360356.2_Missense_Mutation_p.L114M|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000477522.2_Missense_Mutation_p.L79M	p.L79M	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	528	-			114					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.235C>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522233	0.44866	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315;ENST00000466126	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.4	4.45	0.53987	Appr-1-p processing (1);	0.000000	0.42420	D	0.000709	T	0.49064	0.1535	M	0.85630	2.765	0.48632	D	0.999689	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.77004	0.957;0.988;0.989	T	0.49399	-0.8944	10	0.51188	T	0.08	.	6.7817	0.23650	0.15:0.0:0.85:0.0	.	79;114;79	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	M	114;79;79;37;79;92	ENSP00000353512:L114M;ENSP00000419506:L79M;ENSP00000419001:L79M;ENSP00000418894:L79M;ENSP00000419626:L92M	ENSP00000353512:L114M	L	-	1	2	PARP9	123757473	0.895000	0.30542	0.532000	0.27989	0.141000	0.21300	1.443000	0.35057	2.818000	0.97014	0.655000	0.94253	CTG		0.473	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		49	178	1	0	4.18559e-23	1	4.75231e-23	49	178				
PCNT	5116	broad.mit.edu	37	21	47831953	47831953	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831953C>A	ENST00000359568.5	+	28	6073	c.5966C>A	c.(5965-5967)gCt>gAt	p.A1989D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1989					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CATGATGCTGCTTTGGAGCCG	0.617																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5965-5967)gCt>gAt		pericentrin							23.0	26.0	25.0					21																	47831953		2188	4260	6448	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831953C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5966C>A	21.37:g.47831953C>A	ENSP00000352572:p.Ala1989Asp					PCNT_ENST00000480896.1_3'UTR	p.A1989D	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			28	6073	+	Breast(49;0.112)		1989					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5966C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257216	0.10239	.	.	ENSG00000160299	ENST00000359568	T	0.01584	4.75	2.89	-3.84	0.04256	.	.	.	.	.	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	D;B	0.53745	0.962;0.0	P;B	0.45099	0.469;0.001	T	0.45425	-0.9262	9	0.13470	T	0.59	.	5.4084	0.16335	0.0:0.2433:0.5103:0.2463	.	1871;1989	O95613-2;O95613	.;PCNT_HUMAN	D	1989	ENSP00000352572:A1989D	ENSP00000352572:A1989D	A	+	2	0	PCNT	46656381	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.840000	0.01684	-0.580000	0.05944	-0.373000	0.07131	GCT		0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		39	167	1	0	2.27781e-18	1	2.52731e-18	39	167				
SPATA5	166378	broad.mit.edu	37	4	124177323	124177323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177323C>A	ENST00000274008.4	+	15	2562	c.2493C>A	c.(2491-2493)taC>taA	p.Y831*		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	831					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGACGCATACTCAGGAGCAG	0.448																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2491-2493)taC>taA		spermatogenesis associated 5							106.0	99.0	102.0					4																	124177323		2203	4300	6503	SO:0001587	stop_gained	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:124177323C>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2493C>A	4.37:g.124177323C>A	ENSP00000274008:p.Tyr831*						p.Y831*	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			15	2562	+			831					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Nonsense_Mutation	SNP	ENST00000274008.4	37	c.2493C>A	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.648096	0.96714	.	.	ENSG00000145375	ENST00000274008	.	.	.	4.7	0.182	0.15077	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.753	9.981	0.41813	0.0:0.4256:0.0:0.5744	.	.	.	.	X	831	.	ENSP00000274008:Y831X	Y	+	3	2	SPATA5	124396773	0.872000	0.30054	0.972000	0.41901	0.401000	0.30781	-0.155000	0.10115	0.070000	0.16634	0.557000	0.71058	TAC		0.448	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		73	334	1	0	2.26907e-38	1	2.73382e-38	73	334				
KCNC4	3749	broad.mit.edu	37	1	110766507	110766507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766507G>A	ENST00000369787.3	+	2	1627	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K|KCNC4_ENST00000413138.3_Missense_Mutation_p.E534K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	534					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTATGATCGAGAGGAAACG	0.577																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1600-1602)Gag>Aag		potassium voltage-gated channel, Shaw-related subfamily, member 4							50.0	56.0	54.0					1																	110766507		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110766507G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1600G>A	1.37:g.110766507G>A	ENSP00000358802:p.Glu534Lys					KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K|KCNC4_ENST00000413138.3_Missense_Mutation_p.E534K|KCNC4_ENST00000412512.2_Intron	p.E534K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	1627	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	534					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1600G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520122	0.44866	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97772	-4.53;-4.48;-4.48	5.03	4.12	0.48240	.	1.876610	0.02862	N	0.130416	D	0.94820	0.8327	M	0.67397	2.05	0.36759	D	0.883189	B;B;P	0.34892	0.12;0.155;0.474	B;B;B	0.24269	0.009;0.014;0.052	D	0.86509	0.1808	10	0.52906	T	0.07	.	13.4512	0.61172	0.0775:0.0:0.9225:0.0	.	534;534;534	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	K	534	ENSP00000358802:E534K;ENSP00000388029:E534K;ENSP00000393655:E534K	ENSP00000358802:E534K	E	+	1	0	KCNC4	110568030	1.000000	0.71417	0.846000	0.33378	0.942000	0.58702	3.378000	0.52432	1.268000	0.44264	0.462000	0.41574	GAG		0.577	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		29	227	0	0	0	1	0	29	227				
OTUD7B	56957	broad.mit.edu	37	1	149939428	149939428	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939428C>T	ENST00000369135.4	-	4	587	c.293G>A	c.(292-294)gGc>gAc	p.G98D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	98					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGGAGATGCCCCTAGACAG	0.552																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(292-294)gGc>gAc		OTU domain containing 7B							46.0	51.0	49.0					1																	149939428		1958	4155	6113	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149939428C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.293G>A	1.37:g.149939428C>T	ENSP00000358131:p.Gly98Asp					OTUD7B_ENST00000479905.1_Intron	p.G98D	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		4	587	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		98					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.293G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282575	0.80692	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.39997	1.05;1.26	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56232	-0.8013	9	.	.	.	-35.5759	13.1151	0.59295	0.0:0.9234:0.0:0.0766	.	98	Q6GQQ9	OTU7B_HUMAN	D	98	ENSP00000358131:G98D;ENSP00000408231:G98D	.	G	-	2	0	OTUD7B	148206052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	1.454000	0.47793	0.557000	0.71058	GGC		0.552	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		51	255	0	0	0	1	0	51	255				
WFIKKN2	124857	broad.mit.edu	37	17	48918254	48918254	+	Silent	SNP	C	C	T	rs146313081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48918254C>T	ENST00000311378.4	+	2	2133	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	WFIKKN2_ENST00000426127.1_Silent_p.G442G|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	535	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGGTGGACGGCGGCATGGCCA	0.632																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1603-1605)ggC>ggT		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2		C		0,4406		0,0,2203	56.0	44.0	48.0		1605	-4.1	0.7	17	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WFIKKN2	NM_175575.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		535/577	48918254	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48918254C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1605C>T	17.37:g.48918254C>T						RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.G442G	p.G535G	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	2133	+			535			NTR.		Q6UXZ9	Silent	SNP	ENST00000311378.4	37	c.1605C>T	CCDS11575.1																																																																																				0.632	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		46	206	0	0	0	1	0	46	206				
XPC	7508	broad.mit.edu	37	3	14190179	14190179	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190179G>T	ENST00000285021.7	-	13	2517	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	AC093495.4_ENST00000428681.3_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.P731H|AC093495.4_ENST00000420253.1_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	768	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGCCAATAGGCATCATGCT	0.582			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2302-2304)cCt>cAt	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							79.0	84.0	82.0					3																	14190179		2112	4222	6334	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14190179G>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2303C>A	3.37:g.14190179G>T	ENSP00000285021:p.Pro768His					XPC_ENST00000449060.2_Missense_Mutation_p.P731H	p.P768H	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			13	2517	-			768			DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.2303C>A	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056570	0.93793	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	D;D	0.91577	-2.87;-2.61	5.79	5.79	0.91817	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97465	1.0037	10	0.87932	D	0	-19.3044	20.0207	0.97499	0.0:0.0:1.0:0.0	.	731;768	E9PH69;Q01831	.;XPC_HUMAN	H	768;731	ENSP00000285021:P768H;ENSP00000404002:P731H	ENSP00000285021:P768H	P	-	2	0	XPC	14165180	1.000000	0.71417	0.965000	0.40720	0.915000	0.54546	9.607000	0.98328	2.739000	0.93911	0.563000	0.77884	CCT		0.582	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		18	191	1	0	8.00594e-06	1	8.21907e-06	18	191				
CCNA2	890	broad.mit.edu	37	4	122740651	122740651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122740651C>T	ENST00000274026.5	-	5	1181	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	293					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATGCTCCATTCTCAGAACTTG	0.378																																						ENST00000274026.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(877-879)aGa>aAa		cyclin A2							123.0	127.0	126.0					4																	122740651		2203	4300	6503	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122740651C>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.878G>A	4.37:g.122740651C>T	ENSP00000274026:p.Arg293Lys						p.R293K	NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN			5	1181	-			293					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.878G>A	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782183	0.70222	.	.	ENSG00000145386	ENST00000274026	T	0.18338	2.22	6.04	6.04	0.98038	Cyclin, N-terminal (1);Cyclin-like (3);	0.045186	0.85682	D	0.000000	T	0.12008	0.0292	N	0.25060	0.705	0.48901	D	0.999726	B	0.16396	0.017	B	0.23852	0.049	T	0.12863	-1.0531	10	0.08837	T	0.75	.	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	293	P20248	CCNA2_HUMAN	K	293	ENSP00000274026:R293K	ENSP00000274026:R293K	R	-	2	0	CCNA2	122960101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.032000	0.70918	2.873000	0.98535	0.561000	0.74099	AGA		0.378	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		40	477	0	0	0	1	0	40	477				
DNAH2	146754	broad.mit.edu	37	17	7702026	7702026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7702026A>G	ENST00000572933.1	+	55	10009	c.8549A>G	c.(8548-8550)gAa>gGa	p.E2850G	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2850G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2850	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGCCTGATGAATTTGAAGAG	0.507																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8548-8550)gAa>gGa		dynein, axonemal, heavy chain 2							108.0	104.0	105.0					17																	7702026		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702026A>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8549A>G	17.37:g.7702026A>G	ENSP00000458355:p.Glu2850Gly					DNAH2_ENST00000389173.2_Missense_Mutation_p.E2850G	p.E2850G			Q9P225	DYH2_HUMAN			55	10009	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2850			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8549A>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715086	0.89112	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.56275	0.47	5.66	5.66	0.87406	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87871	0.2671	10	0.87932	D	0	.	14.8707	0.70456	1.0:0.0:0.0:0.0	.	2850	Q9P225	DYH2_HUMAN	G	2850	ENSP00000373825:E2850G	ENSP00000353818:E2850G	E	+	2	0	DNAH2	7642751	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.518000	0.90559	2.166000	0.68216	0.454000	0.30748	GAA		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		12	412	0	0	0	1	0	12	412				
COL6A2	1292	broad.mit.edu	37	21	47546054	47546054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47546054C>T	ENST00000300527.4	+	26	2429	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000310645.5_Silent_p.I775I|COL6A2_ENST00000409416.1_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	775	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACTCCATCGCCTGCGACA	0.602																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2323-2325)atC>atT		collagen, type VI, alpha 2							200.0	197.0	198.0					21																	47546054		2203	4299	6502	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546054C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2325C>T	21.37:g.47546054C>T						COL6A2_ENST00000310645.5_Silent_p.I775I|COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I|COL6A2_ENST00000409416.1_Silent_p.I775I	p.I775I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2429	+	Breast(49;0.245)		775			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2325C>T	CCDS13728.1																																																																																				0.602	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			160	1410	0	0	0	1	0	160	1410				
CDC34	997	broad.mit.edu	37	19	535886	535886	+	Missense_Mutation	SNP	G	G	A	rs375521090		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCTTTCGGTTCCTGACC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17007	0.001		0.0	False		,,,				2504	0.0					ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(226-228)cGg>cAg		cell division cycle 34		G	GLN/ARG	0,4406		0,0,2203	263.0	260.0	261.0		227	5.1	0.2	19		261	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC34	NM_004359.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	76/237	535886	1,13005	2203	4300	6503	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:535886G>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.227G>A	19.37:g.535886G>A	ENSP00000215574:p.Arg76Gln						p.R76Q	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	445	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	76					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.227G>A	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870932	0.51695	0.0	1.16E-4	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.45698	1.435	0.80722	D	1	P	0.43909	0.821	B	0.29785	0.107	T	0.23404	-1.0189	10	0.51188	T	0.08	-23.2597	17.6415	0.88138	0.0:0.0:1.0:0.0	.	76	P49427	UB2R1_HUMAN	Q	76	ENSP00000215574:R76Q	ENSP00000215574:R76Q	R	+	2	0	CDC34	486886	1.000000	0.71417	0.190000	0.23270	0.165000	0.22458	7.729000	0.84864	2.388000	0.81334	0.603000	0.83216	CGG		0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		422	1736	0	0	0	1	0	422	1736				
TRPV4	59341	broad.mit.edu	37	12	110246189	110246189	+	Silent	SNP	G	G	A	rs368606075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110246189G>A	ENST00000418703.2	-	2	565	c.471C>T	c.(469-471)atC>atT	p.I157I	TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I|TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000544971.1_Silent_p.I157I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	157					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCGGGACACGATGTCAAAGA	0.612																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(469-471)atC>atT		transient receptor potential cation channel, subfamily V, member 4		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	65.0	58.0	60.0		471,369,471,471,471	0.6	1.0	12		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	157/825,123/838,157/765,157/872,157/812	110246189	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110246189G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.471C>T	12.37:g.110246189G>A						TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000544971.1_Silent_p.I157I|TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I	p.I157I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			2	565	-			157					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.471C>T	CCDS9134.1																																																																																				0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		73	264	0	0	0	1	0	73	264				
PITPNM2	57605	broad.mit.edu	37	12	123481078	123481078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481078G>A	ENST00000542749.1	-	11	1772	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	PITPNM2_ENST00000320201.4_Missense_Mutation_p.A570V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A291V|PITPNM2_ENST00000280562.5_Missense_Mutation_p.A570V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	570					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTAGCACAGGGCATCAAATGC	0.637																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1708-1710)gCc>gTc		phosphatidylinositol transfer protein, membrane-associated 2							36.0	36.0	36.0					12																	123481078		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481078G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1709C>T	12.37:g.123481078G>A	ENSP00000437611:p.Ala570Val					PITPNM2_ENST00000542749.1_Missense_Mutation_p.A570V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A291V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A570V	p.A570V			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	12	1914	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		570					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1709C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204959	0.95033	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.83	4.83	0.62350	.	0.215214	0.38326	N	0.001722	T	0.51702	0.1690	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.60026	-0.7343	10	0.72032	D	0.01	-33.0557	17.9298	0.88993	0.0:0.0:1.0:0.0	.	570;570	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	V	570;570;291;570	ENSP00000280562:A570V;ENSP00000322218:A570V;ENSP00000376223:A291V;ENSP00000437611:A570V	ENSP00000280562:A570V	A	-	2	0	PITPNM2	122047031	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.584000	0.98220	2.236000	0.73375	0.561000	0.74099	GCC		0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		15	323	0	0	0	1	0	15	323				
TLE4	7091	broad.mit.edu	37	9	82336698	82336698	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82336698T>C	ENST00000376552.2	+	17	2899	c.1881T>C	c.(1879-1881)atT>atC	p.I627I	TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376520.4_Silent_p.I659I|TLE4_ENST00000376534.4_Silent_p.I264I|TLE4_ENST00000376537.4_Silent_p.I659I	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	627					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTATTGACATTTCTAATGATG	0.507																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1975-1977)atT>atC		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							73.0	73.0	73.0					9																	82336698		2203	4300	6503	SO:0001819	synonymous_variant	7091							g.chr9:82336698T>C	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1881T>C	9.37:g.82336698T>C						TLE4_ENST00000376552.2_Silent_p.I627I|TLE4_ENST00000376534.4_Silent_p.I264I|TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376537.4_Silent_p.I659I	p.I659I			O60756	BCE1_HUMAN			18	2805	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.1977T>C	CCDS43837.1																																																																																				0.507	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		9	335	0	0	0	1	0	9	335				
ARMC6	93436	broad.mit.edu	37	19	19166660	19166660	+	Missense_Mutation	SNP	C	C	T	rs200832309	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166660C>T	ENST00000535612.1	+	8	1648	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C|ARMC6_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	406					hematopoietic progenitor cell differentiation (GO:0002244)			p.R381S(1)|p.R406S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGACAACAGCCGCATCATCGT	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		16291	0.002		0.0	False		,,,				2504	0.0					ENST00000535612.1																			2	Substitution - Missense(2)	p.R381S(1)|p.R406S(1)	lung(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1216-1218)Cgc>Tgc		armadillo repeat containing 6							56.0	61.0	60.0					19																	19166660		2202	4297	6499	SO:0001583	missense	93436						protein binding	g.chr19:19166660C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1216C>T	19.37:g.19166660C>T	ENSP00000444156:p.Arg406Cys					ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C|ARMC6_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C	p.R406C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		8	1648	+			406					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.1216C>T	CCDS56089.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	16.00|16.00	2.998589|2.998589	0.54147|0.54147	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72	5.24|5.24	4.14|4.14	0.48551|0.48551	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320112	.|0.32218	.|N	.|0.006406	T|T	0.57403|0.57403	0.2051|0.2051	M|M	0.61703|0.61703	1.905|1.905	0.47621|0.47621	D|D	0.999478|0.999478	.|D	.|0.89917	.|1.0	.|P	.|0.57324	.|0.818	T|T	0.59721|0.59721	-0.7401|-0.7401	5|10	.|0.56958	.|D	.|0.05	-30.9653|-30.9653	10.9243|10.9243	0.47182|0.47182	0.3419:0.6581:0.0:0.0|0.3419:0.6581:0.0:0.0	.|.	.|406	.|Q6NXE6	.|ARMC6_HUMAN	L|C	69|381;406;381;313;317;406	.|ENSP00000376147:R381C;ENSP00000444156:R406C;ENSP00000269932:R381C;ENSP00000444341:R313C;ENSP00000376148:R406C	.|ENSP00000269932:R381C	P|R	+|+	2|1	0|0	ARMC6|ARMC6	19027660|19027660	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.071000|0.071000	0.16799|0.16799	3.241000|3.241000	0.51376|0.51376	2.454000|2.454000	0.82982|0.82982	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.672	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		144	589	0	0	0	1	0	144	589				
KCNMA1	3778	broad.mit.edu	37	10	78651348	78651348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78651348C>T	ENST00000286628.8	-	26	3276	c.3277G>A	c.(3277-3279)Gcc>Acc	p.A1093T	RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A1035T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1093					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCCCTATTGGCCAGTGTCTGC	0.627																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3103-3105)Gcc>Acc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						46.0	44.0	44.0					10																	78651348		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651348C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3277G>A	10.37:g.78651348C>T	ENSP00000286628:p.Ala1093Thr					KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1093T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T	p.A1035T	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		25	4055	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1093			Segment S10.		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3103G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.4|21.4|21.4	4.138016|4.138016|4.138016	0.77775|0.77775|0.77775	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208|ENST00000372403	D;D;D;D;D;D;D;D;D|.|.	0.83992|.|.	-1.77;-1.79;-1.77;-1.78;-1.78;-1.77;-1.77;-1.78;-1.78|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|.|.	0.050022|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60287|0.60287|.	0.2257|0.2257|.	L|L|L	0.33485|0.33485|0.33485	1.01|1.01|1.01	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;B;B;P;P;B;P;B|.|.	0.76494|.|.	0.999;0.249;0.364;0.892;0.544;0.141;0.539;0.249|.|.	D;B;B;P;B;B;B;B|.|.	0.74674|.|.	0.984;0.119;0.17;0.642;0.17;0.067;0.343;0.082|.|.	T|T|.	0.53927|0.53927|.	-0.8369|-0.8369|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	-13.11|-13.11|-13.11	19.4341|19.4341|19.4341	0.94783|0.94783|0.94783	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1064;1065;1076;1093;1035;846;1096;1062|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	T|D|X	1035;972;1028;1067;1030;1062;1035;1067;1097;1096;1076;846|1023;742|985	ENSP00000361517:A1035T;ENSP00000361485:A972T;ENSP00000361514:A1028T;ENSP00000396608:A1067T;ENSP00000361520:A1062T;ENSP00000286627:A1035T;ENSP00000385552:A1097T;ENSP00000346321:A1096T;ENSP00000385806:A1076T|.|.	ENSP00000286627:A1035T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78321354|78321354|78321354	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.130000|0.130000|0.130000	0.20726|0.20726|0.20726	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.607000|2.607000|2.607000	0.88179|0.88179|0.88179	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCC|GGC|TGG		0.627	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		24	232	0	0	0	1	0	24	232				
ZNF620	253639	broad.mit.edu	37	3	40558249	40558249	+	Silent	SNP	C	C	T	rs375097956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40558249C>T	ENST00000314529.6	+	5	1313	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	ZNF620_ENST00000418905.1_Silent_p.G274G	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTCACACTGGCGAGAAACCTT	0.458													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21710	0.0		0.0	False		,,,				2504	0.0					ENST00000314529.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(1162-1164)ggC>ggT		zinc finger protein 620		C		0,4406		0,0,2203	86.0	92.0	90.0		1164	-5.6	0.0	3		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF620	NM_175888.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		388/423	40558249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	253639				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40558249C>T	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.1164C>T	3.37:g.40558249C>T						ZNF620_ENST00000418905.1_Silent_p.G274G	p.G388G	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	1313	+			388					Q8N223	Silent	SNP	ENST00000314529.6	37	c.1164C>T	CCDS33740.1																																																																																				0.458	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060		23	275	0	0	0	1	0	23	275				
PLEKHB1	58473	broad.mit.edu	37	11	73372564	73372564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73372564G>A	ENST00000354190.5	+	8	1080	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|Y_RNA_ENST00000516923.1_RNA	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	217					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CAGCGCCGGCGCCCCTCTGGC	0.682											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354190.5																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						c.(649-651)Gcc>Acc		pleckstrin homology domain containing, family B (evectins) member 1							35.0	39.0	38.0					11																	73372564		1985	4143	6128	SO:0001583	missense	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73372564G>A	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.649G>A	11.37:g.73372564G>A	ENSP00000346127:p.Ala217Thr		OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1144	PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T	p.A217T	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN			8	1080	+			217					A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	c.649G>A	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244204	0.59103	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000542185;ENST00000541597;ENST00000535129;ENST00000540431	.	.	.	4.82	4.82	0.62117	.	0.235619	0.43110	D	0.000609	T	0.36524	0.0970	N	0.08118	0	0.30350	N	0.784885	P;D;D	0.65815	0.724;0.976;0.995	B;B;P	0.54312	0.15;0.417;0.748	T	0.34204	-0.9838	9	0.48119	T	0.1	-5.9888	15.1153	0.72397	0.0:0.0:1.0:0.0	.	186;182;217	Q59EU5;Q9UF11-2;Q9UF11	.;.;PKHB1_HUMAN	T	217;182;163;198;112;133;163;163;170	.	ENSP00000227214:A163T	A	+	1	0	PLEKHB1	73050212	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	4.200000	0.58433	2.677000	0.91161	0.561000	0.74099	GCC		0.682	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			80	348	0	0	0	1	0	80	348				
FBLN7	129804	broad.mit.edu	37	2	112942917	112942917	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112942917G>A	ENST00000331203.2	+	7	1218		c.e7+1		FBLN7_ENST00000409450.3_Splice_Site|FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGTCTCCATTGTGAGTATCTC	0.572																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e7+1		fibulin 7							91.0	76.0	81.0					2																	112942917		2203	4300	6503	SO:0001630	splice_region_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942917G>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.947+1G>A	2.37:g.112942917G>A						FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site|FBLN7_ENST00000409450.3_Splice_Site		NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			7	1218	+								A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Splice_Site	SNP	ENST00000331203.2	37		CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507593	0.64410	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7029	0.91627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN7	112659388	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.268000	0.95675	2.513000	0.84729	0.561000	0.74099	.		0.572	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	Intron	19	323	0	0	0	1	0	19	323				
FUBP3	8939	broad.mit.edu	37	9	133501820	133501820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133501820G>A	ENST00000319725.9	+	12	1120	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	349					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTGGAGCGTGGGAGCCCCTGG	0.602											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319725.9																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(1045-1047)Gga>Aga		far upstream element (FUSE) binding protein 3							50.0	60.0	57.0					9																	133501820		2060	4219	6279	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133501820G>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1045G>A	9.37:g.133501820G>A	ENSP00000318177:p.Gly349Arg		OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1603		p.G349R	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	12	1120	+			349					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.1045G>A	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224625	0.79576	.	.	ENSG00000107164	ENST00000319725	T	0.54675	0.56	5.67	5.67	0.87782	.	0.052210	0.85682	D	0.000000	T	0.63105	0.2483	M	0.71206	2.165	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.54270	0.747;0.747	T	0.62854	-0.6766	10	0.40728	T	0.16	-16.8512	12.112	0.53844	0.0774:0.0:0.9226:0.0	.	349;349	A3KFK8;Q96I24	.;FUBP3_HUMAN	R	349	ENSP00000318177:G349R	ENSP00000318177:G349R	G	+	1	0	FUBP3	132491641	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	8.055000	0.89453	2.677000	0.91161	0.655000	0.94253	GGA		0.602	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			34	139	0	0	0	1	0	34	139				
PSMA1	5682	broad.mit.edu	37	11	14535242	14535242	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14535242T>C	ENST00000396394.2	-	7	814	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000530457.1_Missense_Mutation_p.M115V	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	140					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TGAGGGCCCATATCCTACAAA	0.328																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(343-345)Atg>Gtg		proteasome (prosome, macropain) subunit, alpha type, 1							62.0	65.0	64.0					11																	14535242		2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14535242T>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.418A>G	11.37:g.14535242T>C	ENSP00000379676:p.Met140Val					PSMA1_ENST00000396394.2_Missense_Mutation_p.M140V|PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V	p.M115V			P25786	PSA1_HUMAN			7	873	-			140					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.343A>G	CCDS7816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.444090|4.444090	0.83993|0.83993	.|.	.|.	ENSG00000129084|ENSG00000129084	ENST00000419365|ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T|T;T;T;T	0.46063|0.20881	0.88|2.04;2.04;2.04;2.04	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.17474|0.17474	0.49|0.49	0.31237|0.31237	N|N	0.695602|0.695602	.|B;B	.|0.11235	.|0.001;0.004	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.06844|0.06844	-1.0804|-1.0804	7|10	0.51188|0.27082	T|T	0.08|0.32	-11.1186|-11.1186	16.4696|16.4696	0.84102|0.84102	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|146;140	.|P25786-2;P25786	.|.;PSA1_HUMAN	M|V	120|140;140;115;146	ENSP00000392242:I120M|ENSP00000379676:M140V;ENSP00000379675:M140V;ENSP00000441166:M115V;ENSP00000414359:M146V	ENSP00000392242:I120M|ENSP00000379675:M140V	I|M	-|-	3|1	3|0	PSMA1|PSMA1	14491818|14491818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.239000|7.239000	0.78182|0.78182	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	ATA|ATG		0.328	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		72	280	0	0	0	1	0	72	280				
INO80C	125476	broad.mit.edu	37	18	33060428	33060428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33060428G>A	ENST00000334598.7	-	2	372	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000592173.1_Missense_Mutation_p.P86S|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000590757.1_Intron	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	86					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ACAAAGTTGGGATCCTTAAAT	0.488																																						ENST00000592173.1																			0				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						c.(256-258)Ccc>Tcc		INO80 complex subunit C							169.0	152.0	158.0					18																	33060428		2203	4300	6503	SO:0001583	missense	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33060428G>A		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.256C>T	18.37:g.33060428G>A	ENSP00000334473:p.Pro86Ser					INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000334598.7_Missense_Mutation_p.P86S|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000590757.1_Intron	p.P86S			Q6PI98	IN80C_HUMAN			2	314	-			86					B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	ENST00000334598.7	37	c.256C>T	CCDS11914.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142462	0.57044	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	6.02	6.02	0.97574	.	0.058844	0.64402	D	0.000001	T	0.73753	0.3627	L	0.52573	1.65	0.58432	D	0.999994	D;B;D	0.76494	0.958;0.172;0.999	P;B;D	0.68943	0.63;0.062;0.961	T	0.71938	-0.4441	9	0.46703	T	0.11	.	16.0374	0.80640	0.0:0.0:1.0:0.0	.	122;86;86	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	S	86;122;86	.	ENSP00000283410:P86S	P	-	1	0	INO80C	31314426	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.061000	0.71148	2.857000	0.98124	0.650000	0.86243	CCC		0.488	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281		70	330	0	0	0	1	0	70	330				
SCAMP5	192683	broad.mit.edu	37	15	75310804	75310804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75310804G>A	ENST00000361900.6	+	7	648	c.441G>A	c.(439-441)tcG>tcA	p.S147S	SCAMP5_ENST00000425597.3_Silent_p.S147S|SCAMP5_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000568081.1_Silent_p.S80S|SCAMP5_ENST00000562212.1_Silent_p.S155S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	147					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACATTGGCTCGGCGGTGGTGA	0.582																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(439-441)tcG>tcA		secretory carrier membrane protein 5							174.0	163.0	167.0					15																	75310804		2031	4187	6218	SO:0001819	synonymous_variant	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75310804G>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.441G>A	15.37:g.75310804G>A						SCAMP5_ENST00000562212.1_Silent_p.S155S|SCAMP5_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000568081.1_Silent_p.S80S|SCAMP5_ENST00000425597.3_Silent_p.S147S	p.S147S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			7	648	+			147					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	c.441G>A	CCDS45306.1																																																																																				0.582	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		158	815	0	0	0	1	0	158	815				
COPA	1314	broad.mit.edu	37	1	160312937	160312937	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160312937C>A	ENST00000241704.7	-	1	253	c.24G>T	c.(22-24)aaG>aaT	p.K8N	COPA_ENST00000368069.3_Missense_Mutation_p.K8N|NCSTN_ENST00000368063.1_5'Flank|NCSTN_ENST00000294785.5_5'Flank|NCSTN_ENST00000535857.1_5'Flank|NCSTN_ENST00000392212.4_5'Flank	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	8					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCGCGCGCTCTTGGTCTCGA	0.567																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(22-24)aaG>aaT		coatomer protein complex, subunit alpha							185.0	195.0	191.0					1																	160312937		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160312937C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.24G>T	1.37:g.160312937C>A	ENSP00000241704:p.Lys8Asn					COPA_ENST00000368069.3_Missense_Mutation_p.K8N	p.K8N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	253	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		8					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.24G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270903	0.80469	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.80994	-1.44;-1.44	4.99	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049517	0.85682	D	0.000000	D	0.85031	0.5604	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.971	D	0.85280	0.1061	10	0.87932	D	0	-17.2707	7.1259	0.25471	0.0:0.7243:0.0:0.2757	.	8;8	P53621;P53621-2	COPA_HUMAN;.	N	8	ENSP00000357048:K8N;ENSP00000241704:K8N	ENSP00000241704:K8N	K	-	3	2	COPA	158579561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.516000	0.35856	0.658000	0.30925	0.655000	0.94253	AAG		0.567	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		365	974	1	0	7.18946e-127	1	9.25872e-127	365	974				
SIRPB1	10326	broad.mit.edu	37	20	1559304	1559304	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1559304G>T	ENST00000381605.4	-	2	177	c.113C>A	c.(112-114)cCt>cAt	p.P38H	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P38H|SIRPB1_ENST00000262929.5_Missense_Mutation_p.P37H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P38H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	38	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGACTTTTCAGGCTGAATCAC	0.527																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(112-114)cCt>cAt		signal-regulatory protein beta 1							86.0	80.0	82.0					20																	1559304		2198	4242	6440	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559304G>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.113C>A	20.37:g.1559304G>T	ENSP00000371018:p.Pro38His					SIRPB1_ENST00000262929.5_Missense_Mutation_p.P37H|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P38H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P38H	p.P38H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	177	-			38			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.113C>A	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	12.97	2.097629	0.37048	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.67523	-0.27;-0.27;-0.27	2.36	1.33	0.21861	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.200859	0.35525	N	0.003142	T	0.81870	0.4914	M	0.92169	3.28	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.71066	-0.4700	10	0.87932	D	0	.	6.7971	0.23731	0.0:0.2943:0.7057:0.0	.	38;38	O00241;O00241-2	SIRB1_HUMAN;.	H	38;38;37	ENSP00000371018:P38H;ENSP00000371016:P38H;ENSP00000262929:P37H	ENSP00000262929:P37H	P	-	2	0	SIRPB1	1507304	1.000000	0.71417	0.206000	0.23566	0.062000	0.15995	2.807000	0.47955	0.299000	0.22661	0.462000	0.41574	CCT		0.527	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		10	560	1	0	0.000442599	1	0.000448314	10	560				
ELMO2	63916	broad.mit.edu	37	20	45022235	45022235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45022235G>A	ENST00000290246.6	-	5	319	c.125C>T	c.(124-126)tCg>tTg	p.S42L	ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	42					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTTGGCAACGACCACCTATG	0.453																																						ENST00000290246.6																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(124-126)tCg>tTg		engulfment and cell motility 2							163.0	155.0	158.0					20																	45022235		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45022235G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.125C>T	20.37:g.45022235G>A	ENSP00000290246:p.Ser42Leu					ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000488853.1_5'UTR	p.S42L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN			5	319	-		Myeloproliferative disorder(115;0.0122)	42					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.125C>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154087	0.57259	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.24908	2.43;2.43;2.43;2.43;1.83	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	M	0.71581	2.175	0.80722	D	1	P;P	0.42757	0.667;0.789	B;B	0.32928	0.107;0.155	T	0.36553	-0.9743	10	0.72032	D	0.01	-9.6865	16.5031	0.84262	0.0:0.0:1.0:0.0	.	42;42	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	L	42	ENSP00000290246:S42L;ENSP00000379673:S42L;ENSP00000396519:S42L;ENSP00000326172:S42L;ENSP00000416181:S42L	ENSP00000290246:S42L	S	-	2	0	ELMO2	44455642	1.000000	0.71417	0.950000	0.38849	0.916000	0.54674	5.952000	0.70282	2.375000	0.81037	0.491000	0.48974	TCG		0.453	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		162	722	0	0	0	1	0	162	722				
CFLAR	8837	broad.mit.edu	37	2	202005146	202005146	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202005146C>A	ENST00000309955.3	+	5	1105	c.590C>A	c.(589-591)cCt>cAt	p.P197H	CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000474886.2_RNA|RNU7-45P_ENST00000459460.1_RNA|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	197	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTCAAGGATCCTTCAAATAAC	0.398																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(589-591)cCt>cAt		CASP8 and FADD-like apoptosis regulator							112.0	112.0	112.0					2																	202005146		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202005146C>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.590C>A	2.37:g.202005146C>A	ENSP00000312455:p.Pro197His					CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H	p.P197H	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			5	1105	+			197			Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.590C>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.086986	0.07097	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000342795;ENST00000423241;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T;T	0.48522	3.71;3.71;0.81;0.81;3.58;3.93;0.87;3.71;0.81;3.58	4.69	1.81	0.25067	.	0.885835	0.10210	N	0.702195	T	0.36690	0.0976	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B	0.30973	0.095;0.021;0.241;0.127;0.155;0.302;0.127	B;B;B;B;B;B;B	0.32624	0.032;0.016;0.103;0.075;0.048;0.149;0.075	T	0.30357	-0.9981	10	0.38643	T	0.18	0.0436	4.1779	0.10360	0.1818:0.6268:0.0:0.1914	.	101;197;197;197;197;197;197	O15519-3;C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2	.;.;.;.;CFLAR_HUMAN;.;.	H	197;101;197;197;197;101;197;197;197;197;197	ENSP00000312455:P197H;ENSP00000413270:P101H;ENSP00000339335:P197H;ENSP00000347757:P197H;ENSP00000339326:P197H;ENSP00000345807:P197H;ENSP00000342809:P197H;ENSP00000399420:P197H;ENSP00000406775:P197H;ENSP00000411535:P197H	ENSP00000312455:P197H	P	+	2	0	CFLAR	201713391	0.010000	0.17322	0.015000	0.15790	0.043000	0.13939	0.479000	0.22228	0.405000	0.25532	0.650000	0.86243	CCT		0.398	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		115	334	1	0	3.3835e-51	1	4.19742e-51	115	334				
RREB1	6239	broad.mit.edu	37	6	7229879	7229879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229879G>T	ENST00000349384.6	+	10	1861	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	RREB1_ENST00000334984.6_Missense_Mutation_p.R516L|RREB1_ENST00000379938.2_Missense_Mutation_p.R516L|RREB1_ENST00000379933.3_Missense_Mutation_p.R516L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	516	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCACACCACGGACGGTGGTG	0.677																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1546-1548)cGg>cTg		ras responsive element binding protein 1							74.0	89.0	84.0					6																	7229879		2203	4299	6502	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229879G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1547G>T	6.37:g.7229879G>T	ENSP00000305560:p.Arg516Leu					RREB1_ENST00000349384.6_Missense_Mutation_p.R516L|RREB1_ENST00000379933.3_Missense_Mutation_p.R516L|RREB1_ENST00000334984.6_Missense_Mutation_p.R516L	p.R516L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2084	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	516			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1547G>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782722	0.70222	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.14144	2.58;2.53;2.58;2.55;2.78	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000025	T	0.28532	0.0706	M	0.69823	2.125	0.50171	D	0.999857	D;D;D	0.71674	0.992;0.998;0.997	P;P;P	0.62298	0.882;0.9;0.851	T	0.00998	-1.1486	10	0.52906	T	0.07	-31.7759	19.7629	0.96329	0.0:0.0:1.0:0.0	.	516;516;516	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	516	ENSP00000369265:R516L;ENSP00000369270:R516L;ENSP00000305560:R516L;ENSP00000335574:R516L;ENSP00000419511:R516L	ENSP00000335574:R516L	R	+	2	0	RREB1	7174878	1.000000	0.71417	0.101000	0.21167	0.862000	0.49288	9.302000	0.96175	2.666000	0.90696	0.561000	0.74099	CGG		0.677	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			65	1287	1	0	3.39706e-21	1	3.82169e-21	65	1287				
FGA	2243	broad.mit.edu	37	4	155505940	155505940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155505940C>T	ENST00000302053.3	-	6	2015	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTGAAAATGCCACTTTGGGT	0.378																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1936-1938)gGc>gAc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						46.0	47.0	47.0					4																	155505940		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505940C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1937G>A	4.37:g.155505940C>T	ENSP00000306361:p.Gly646Asp						p.G646D	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2015	-	all_hematologic(180;0.215)	Renal(120;0.0458)	646			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1937G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770217	0.69992	.	.	ENSG00000171560	ENST00000302053	D	0.98987	-5.3	5.46	4.63	0.57726	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044035	0.85682	D	0.000000	D	0.98972	0.9650	M	0.82433	2.59	0.80722	D	1	P	0.46277	0.875	P	0.53988	0.739	D	0.98824	1.0748	10	0.62326	D	0.03	.	14.4471	0.67359	0.0:0.9288:0.0:0.0712	.	646	P02671	FIBA_HUMAN	D	646	ENSP00000306361:G646D	ENSP00000306361:G646D	G	-	2	0	FGA	155725390	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.530000	0.60595	1.304000	0.44892	-0.143000	0.13931	GGC		0.378	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		46	329	0	0	0	1	0	46	329				
TLN1	7094	broad.mit.edu	37	9	35708471	35708471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35708471A>G	ENST00000314888.9	-	34	4690	c.4337T>C	c.(4336-4338)cTg>cCg	p.L1446P	TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P|TLN1_ENST00000464379.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1446	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACCAACCAGATATGCAGC	0.522																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4336-4338)cTg>cCg		talin 1							58.0	58.0	58.0					9																	35708471		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35708471A>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4337T>C	9.37:g.35708471A>G	ENSP00000316029:p.Leu1446Pro					TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P	p.L1446P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		34	4690	-	all_epithelial(49;0.167)		1446			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4337T>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284188	0.80803	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30981	1.51;1.51	5.06	5.06	0.68205	.	0.083774	0.50627	D	0.000107	T	0.61085	0.2319	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69423	-0.5149	10	0.87932	D	0	-9.0589	14.8386	0.70206	1.0:0.0:0.0:0.0	.	1446	Q9Y490	TLN1_HUMAN	P	1446	ENSP00000316029:L1446P;ENSP00000442981:L1446P	ENSP00000316029:L1446P	L	-	2	0	TLN1	35698471	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.335000	0.96500	1.899000	0.54978	0.459000	0.35465	CTG		0.522	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		53	287	0	0	0	1	0	53	287				
KRTAP10-1	386677	broad.mit.edu	37	21	45959281	45959281	+	Silent	SNP	G	G	A	rs371224828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45959281G>A	ENST00000400375.1	-	1	797	c.753C>T	c.(751-753)tgC>tgT	p.C251C	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	251	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGGGGCACAGCAGGAGGAGA	0.731													G|||	2	0.000399361	0.0	0.0	5008	,	,		14916	0.0		0.002	False		,,,				2504	0.0					ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(751-753)tgC>tgT		keratin associated protein 10-1		G	,	0,4406		0,0,2203	44.0	52.0	49.0		,753	2.3	0.2	21		49	4,8596	3.7+/-12.6	0,4,4296	no	intron,coding-synonymous	TSPEAR,KRTAP10-1	NM_144991.2,NM_198691.2	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	,251/283	45959281	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959281G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.753C>T	21.37:g.45959281G>A						TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.C251C	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	797	-			251			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.753C>T	CCDS42954.1																																																																																				0.731	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			10	336	0	0	0	1	0	10	336				
VILL	50853	broad.mit.edu	37	3	38048048	38048048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38048048C>T	ENST00000283713.6	+	19	2580	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*|VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*			O15195	VILL_HUMAN	villin-like	772					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGATCTGGTGCGAAGCCCCAA	0.657																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2314-2316)Cga>Tga		villin-like							34.0	41.0	39.0					3																	38048048		2202	4298	6500	SO:0001587	stop_gained	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048048C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2314C>T	3.37:g.38048048C>T	ENSP00000283713:p.Arg772*					VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*|VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*	p.R772*			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2580	+			772					A8MZP1|Q9BT80|Q9BWH7	Nonsense_Mutation	SNP	ENST00000283713.6	37	c.2314C>T	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730392	0.69074	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	.	.	.	3.14	3.14	0.36123	.	4.268040	0.00846	N	0.001781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	2.6977	10.0336	0.42116	0.0:1.0:0.0:0.0	.	.	.	.	X	772;772;758;490	.	ENSP00000283713:R772X	R	+	1	2	VILL	38023052	0.000000	0.05858	0.032000	0.17829	0.006000	0.05464	-0.079000	0.11357	2.090000	0.63153	0.462000	0.41574	CGA		0.657	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		16	392	0	0	0	1	0	16	392				
FGA	2243	broad.mit.edu	37	4	155508756	155508756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155508756C>T	ENST00000302053.3	-	4	496	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FGA_ENST00000403106.3_Missense_Mutation_p.V140I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	140					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CGCTTCAGGACTTCAATTCTG	0.403																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(418-420)Gtc>Atc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						194.0	177.0	183.0					4																	155508756		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508756C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.418G>A	4.37:g.155508756C>T	ENSP00000306361:p.Val140Ile					FGA_ENST00000403106.3_Missense_Mutation_p.V140I	p.V140I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			4	496	-	all_hematologic(180;0.215)	Renal(120;0.0458)	140					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.418G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017251	0.07959	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.84370	-1.84;-1.84	6.16	-0.556	0.11803	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	1.369600	0.04234	N	0.335841	T	0.57902	0.2085	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.59284	-0.7483	10	0.05525	T	0.97	.	6.2462	0.20818	0.1133:0.3299:0.0:0.5568	.	140;140;140	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	I	140	ENSP00000306361:V140I;ENSP00000385981:V140I	ENSP00000306361:V140I	V	-	1	0	FGA	155728206	0.000000	0.05858	0.649000	0.29536	0.771000	0.43674	-0.481000	0.06552	-0.003000	0.14444	0.650000	0.86243	GTC		0.403	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		93	385	0	0	0	1	0	93	385				
ZNF585B	92285	broad.mit.edu	37	19	37677675	37677675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677675G>T	ENST00000532828.2	-	5	1015	c.764C>A	c.(763-765)tCc>tAc	p.S255Y	ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAGTGTGGACTTTTGTGT	0.428																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(763-765)tCc>tAc		zinc finger protein 585B							183.0	180.0	181.0					19																	37677675		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677675G>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.764C>A	19.37:g.37677675G>T	ENSP00000433773:p.Ser255Tyr					ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y	p.S255Y	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1015	-			255					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.764C>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	4.716	0.133052	0.09032	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.18502	2.21;2.21	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37136	N	0.002237	T	0.26702	0.0653	L	0.58302	1.8	0.09310	N	0.999998	P;D	0.65815	0.936;0.995	B;P	0.57911	0.374;0.829	T	0.02307	-1.1179	10	0.62326	D	0.03	.	6.5405	0.22377	0.151:0.0:0.849:0.0	.	200;255	E9PQH3;Q52M93	.;Z585B_HUMAN	Y	200;255	ENSP00000436774:S200Y;ENSP00000433773:S255Y	ENSP00000436774:S200Y	S	-	2	0	ZNF585B	42369515	0.000000	0.05858	0.997000	0.53966	0.008000	0.06430	0.126000	0.15769	1.338000	0.45544	0.455000	0.32223	TCC		0.428	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		128	632	1	0	9.56113e-55	1	1.19399e-54	128	632				
ZNF805	390980	broad.mit.edu	37	19	57765775	57765775	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57765775T>C	ENST00000414468.2	+	4	1588	c.1588T>C	c.(1588-1590)Tct>Cct	p.S530P	ZNF805_ENST00000354309.4_Missense_Mutation_p.S397P|ZNF805_ENST00000535550.1_Missense_Mutation_p.S397P	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CATTCGACACTCTATCATCCA	0.507																																						ENST00000535550.1																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(1189-1191)Tct>Cct		zinc finger protein 805							97.0	94.0	95.0					19																	57765775		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57765775T>C	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1588T>C	19.37:g.57765775T>C	ENSP00000412999:p.Ser530Pro					ZNF805_ENST00000354309.4_Missense_Mutation_p.S397P|ZNF805_ENST00000414468.2_Missense_Mutation_p.S530P	p.S397P	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN			4	1685	+			530					B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.1189T>C	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.564893	0.45694	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.07800	3.16;3.16;3.16	4.03	1.78	0.24846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.312830	0.00725	N	0.000916	T	0.11196	0.0273	L	0.34521	1.04	0.09310	N	1	P	0.45428	0.858	P	0.49387	0.609	T	0.16453	-1.0402	10	0.87932	D	0	.	0.4059	0.00433	0.1837:0.1876:0.2725:0.3562	.	530	Q5CZA5	ZN805_HUMAN	P	397;530;397	ENSP00000440067:S397P;ENSP00000412999:S530P;ENSP00000365414:S397P	ENSP00000365414:S397P	S	+	1	0	ZNF805	62457587	0.000000	0.05858	0.931000	0.37212	0.989000	0.77384	-0.330000	0.07925	0.649000	0.30751	0.460000	0.39030	TCT		0.507	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		63	270	0	0	0	1	0	63	270				
PCDHGC3	5098	broad.mit.edu	37	5	140856674	140856674	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856674C>T	ENST00000308177.3	+	1	1095	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	331	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCCAATCCCGAAGGAGC	0.542																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(991-993)Ccc>Tcc									81.0	73.0	76.0					5																	140856674		2203	4300	6503	SO:0001583	missense	0							g.chr5:140856674C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.991C>T	5.37:g.140856674C>T	ENSP00000312070:p.Pro331Ser					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P331S	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1095	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.991C>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572384	0.13623	.	.	ENSG00000240184	ENST00000308177	T	0.55413	0.52	5.49	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34337	0.0894	L	0.31476	0.935	0.09310	N	1	B;P	0.37731	0.134;0.607	B;B	0.30782	0.084;0.12	T	0.08848	-1.0702	9	0.12430	T	0.62	.	11.1109	0.48232	0.0:0.8591:0.0:0.1409	.	331;331	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	S	331	ENSP00000312070:P331S	ENSP00000312070:P331S	P	+	1	0	PCDHGC3	140836858	0.001000	0.12720	0.992000	0.48379	0.976000	0.68499	0.869000	0.27996	2.865000	0.98341	0.655000	0.94253	CCC		0.542	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		63	283	0	0	0	1	0	63	283				
FAM124B	79843	broad.mit.edu	37	2	225266170	225266170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225266170G>T	ENST00000409685.3	-	1	581	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	FAM124B_ENST00000243806.2_Missense_Mutation_p.L106M|FAM124B_ENST00000389874.3_Missense_Mutation_p.L106M	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	106										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TAGGGACACAGCCTTCCCCGA	0.597																																						ENST00000389874.3																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(316-318)Ctg>Atg		family with sequence similarity 124B							60.0	56.0	58.0					2																	225266170		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266170G>T	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.316C>A	2.37:g.225266170G>T	ENSP00000386895:p.Leu106Met					FAM124B_ENST00000243806.2_Missense_Mutation_p.L106M|FAM124B_ENST00000409685.3_Missense_Mutation_p.L106M	p.L106M	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	541	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	106					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.316C>A	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601680	0.28534	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44083	0.93;0.93;0.93	5.69	0.361	0.16107	.	1.078210	0.07017	N	0.826143	T	0.39253	0.1071	L	0.36672	1.1	0.09310	N	1	P;B	0.47253	0.892;0.429	P;B	0.50537	0.643;0.323	T	0.31194	-0.9952	10	0.29301	T	0.29	-2.5578	5.3943	0.16261	0.3452:0.0:0.4768:0.1779	.	106;106	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	M	106	ENSP00000374524:L106M;ENSP00000386895:L106M;ENSP00000243806:L106M	ENSP00000243806:L106M	L	-	1	2	FAM124B	224974414	0.787000	0.28750	0.004000	0.12327	0.552000	0.35366	1.063000	0.30567	0.325000	0.23359	0.655000	0.94253	CTG		0.597	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		15	202	1	0	7.93312e-07	1	8.20014e-07	15	202				
TTC23	64927	broad.mit.edu	37	15	99740177	99740177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99740177C>T	ENST00000394132.2	-	9	1523	c.706G>A	c.(706-708)Ggt>Agt	p.G236S	TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000558613.1_Missense_Mutation_p.G236S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	236										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCTCTACACCTGCTAATTCT	0.463																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(706-708)Ggt>Agt		tetratricopeptide repeat domain 23							274.0	241.0	252.0					15																	99740177		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99740177C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.706G>A	15.37:g.99740177C>T	ENSP00000377690:p.Gly236Ser					TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000558613.1_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S	p.G236S			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		9	1523	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		236					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.706G>A	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808939	0.90707	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.75704	2.57;2.57;2.57;2.57;0.03;-0.96	5.87	3.98	0.46160	Tetratricopeptide-like helical (1);	0.299368	0.36740	N	0.002439	T	0.66436	0.2789	L	0.60455	1.87	0.09310	N	1	B;P	0.48294	0.291;0.908	B;P	0.44422	0.073;0.449	T	0.57087	-0.7871	10	0.07644	T	0.81	-3.1979	8.012	0.30359	0.1572:0.7622:0.0:0.0806	.	236;236	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	S	236	ENSP00000377690:G236S;ENSP00000377693:G236S;ENSP00000262074:G236S;ENSP00000377692:G236S;ENSP00000377688:G236S;ENSP00000457901:G236S	ENSP00000262074:G236S	G	-	1	0	TTC23	97557700	0.024000	0.19004	0.015000	0.15790	0.984000	0.73092	2.426000	0.44731	0.922000	0.37019	0.655000	0.94253	GGT		0.463	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		105	479	0	0	0	1	0	105	479				
TNRC18	84629	broad.mit.edu	37	7	5430201	5430201	+	Silent	SNP	C	C	T	rs376442503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5430201C>T	ENST00000430969.1	-	4	750	c.402G>A	c.(400-402)gaG>gaA	p.E134E	TNRC18_ENST00000399434.2_Silent_p.E60E|TNRC18_ENST00000399537.4_Silent_p.E134E	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	134							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTGGGGGGCTCCAGGTGGT	0.607																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(400-402)gaG>gaA		trinucleotide repeat containing 18		C		0,3696		0,0,1848	18.0	23.0	21.0		402	1.4	1.0	7		21	1,8161		0,1,4080	no	coding-synonymous	TNRC18	NM_001080495.2		0,1,5928	TT,TC,CC		0.0123,0.0,0.0084		134/2969	5430201	1,11857	1848	4081	5929	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5430201C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.402G>A	7.37:g.5430201C>T						TNRC18_ENST00000430969.1_Silent_p.E134E|TNRC18_ENST00000399434.2_Silent_p.E60E	p.E134E			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	4	750	-		Ovarian(82;0.142)	134					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.402G>A	CCDS47534.1																																																																																				0.607	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				20	109	0	0	0	1	0	20	109				
OR5C1	392391	broad.mit.edu	37	9	125551396	125551396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125551396C>T	ENST00000373680.2	+	1	247	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTCCACACACCTATGTACTTC	0.627																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(184-186)cCt>cTt		olfactory receptor, family 5, subfamily C, member 1							144.0	133.0	136.0					9																	125551396		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551396C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.185C>T	9.37:g.125551396C>T	ENSP00000362784:p.Pro62Leu						p.P62L	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	247	+			62					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.185C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780487	0.90195	.	.	ENSG00000148215	ENST00000373680	T	0.02032	4.49	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	U	0.002743	T	0.15696	0.0378	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00077	-1.2115	10	0.87932	D	0	.	17.8648	0.88793	0.0:1.0:0.0:0.0	.	62	Q8NGR4	OR5C1_HUMAN	L	62	ENSP00000362784:P62L	ENSP00000362784:P62L	P	+	2	0	OR5C1	124591217	1.000000	0.71417	0.938000	0.37757	0.973000	0.67179	4.795000	0.62489	2.741000	0.93983	0.650000	0.86243	CCT		0.627	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			129	576	0	0	0	1	0	129	576				
PEX5L	51555	broad.mit.edu	37	3	179592146	179592146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179592146G>A	ENST00000467460.1	-	7	1025	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	232					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAATTCTGAAGCCGACTCAGA	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(694-696)gCt>gTt		peroxisomal biogenesis factor 5-like							103.0	101.0	101.0					3																	179592146		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179592146G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.695C>T	3.37:g.179592146G>A	ENSP00000419975:p.Ala232Val					PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000467440.2_5'UTR	p.A232V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		7	1025	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		232					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.695C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975104	0.34848	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.26;-2.24;-2.24;-2.26;-2.27;-2.24;-2.27	5.55	4.66	0.58398	.	0.448650	0.24942	N	0.034377	T	0.74673	0.3747	N	0.08118	0	0.22081	N	0.999371	B;B;B;B;B;B	0.25904	0.049;0.02;0.0;0.082;0.137;0.02	B;B;B;B;B;B	0.21546	0.016;0.011;0.001;0.035;0.035;0.01	T	0.65100	-0.6250	10	0.39692	T	0.17	-2.5038	13.3172	0.60413	0.0744:0.0:0.9256:0.0	.	173;208;124;230;197;232	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	232;230;197;230;124;40;189;120;173;124;208;40	ENSP00000419975:A232V;ENSP00000263962:A230V;ENSP00000418440:A197V;ENSP00000376420:A124V;ENSP00000418665:A40V;ENSP00000420555:A189V;ENSP00000418054:A173V;ENSP00000417270:A124V;ENSP00000419348:A208V	ENSP00000263962:A230V	A	-	2	0	PEX5L	181074840	0.992000	0.36948	0.095000	0.20976	0.592000	0.36648	4.313000	0.59160	1.458000	0.47871	0.650000	0.86243	GCT		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		62	239	0	0	0	1	0	62	239				
UBN2	254048	broad.mit.edu	37	7	138936758	138936758	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936758C>A	ENST00000473989.3	+	3	618	c.618C>A	c.(616-618)ggC>ggA	p.G206G	UBN2_ENST00000288561.8_Silent_p.G123G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	206						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTGATATAGGCTTTGGCTATG	0.388																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(367-369)ggC>ggA		ubinuclein 2							124.0	122.0	123.0					7																	138936758		1841	4078	5919	SO:0001819	synonymous_variant	254048							g.chr7:138936758C>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.618C>A	7.37:g.138936758C>A						UBN2_ENST00000473989.2_Silent_p.G206G	p.G123G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			3	618	+			206			Pro-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.369C>A	CCDS43655.2																																																																																				0.388	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		69	415	1	0	1.25742e-37	1	1.51121e-37	69	415				
GGH	8836	broad.mit.edu	37	8	63927900	63927900	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63927900T>C	ENST00000260118.6	-	9	1350	c.948A>G	c.(946-948)atA>atG	p.I316M	RP11-659E9.2_ENST00000524309.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	316	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	TTCAATCAAATATGTAACATT	0.299																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(946-948)atA>atG		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						53.0	53.0	53.0					8																	63927900		2196	4291	6487	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63927900T>C	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.948A>G	8.37:g.63927900T>C	ENSP00000260118:p.Ile316Met						p.I316M	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			9	1350	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	316			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.948A>G	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043502	0.36085	.	.	ENSG00000137563	ENST00000260118	T	0.44881	0.91	5.74	-6.28	0.02020	.	0.447666	0.28093	N	0.016622	T	0.17152	0.0412	N	0.25031	0.7	0.27732	N	0.944785	B	0.22276	0.067	B	0.20184	0.028	T	0.03795	-1.1003	10	0.35671	T	0.21	-16.6356	1.2416	0.01964	0.3572:0.2029:0.3014:0.1386	.	316	Q92820	GGH_HUMAN	M	316	ENSP00000260118:I316M	ENSP00000260118:I316M	I	-	3	3	GGH	64090454	0.986000	0.35501	0.811000	0.32455	0.959000	0.62525	0.101000	0.15251	-0.758000	0.04690	0.528000	0.53228	ATA		0.299	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			12	66	0	0	0	1	0	12	66				
CSMD3	114788	broad.mit.edu	37	8	113697892	113697892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113697892C>T	ENST00000297405.5	-	15	2469	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	742	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAATTATTTCCATACCCTTC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2224-2226)gGa>gAa		CUB and Sushi multiple domains 3							86.0	94.0	91.0					8																	113697892		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697892C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2225G>A	8.37:g.113697892C>T	ENSP00000297405:p.Gly742Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E	p.G742E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2469	-			742			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2225G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098694	0.76870	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000001	T	0.40119	0.1104	M	0.66939	2.045	0.52501	D	0.999954	D;D;D	0.89917	0.984;1.0;1.0	D;D;D	0.97110	0.96;1.0;1.0	T	0.08534	-1.0717	10	0.10902	T	0.67	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	638;742;702	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	702;742;82;638;742	ENSP00000345799:G702E;ENSP00000297405:G742E;ENSP00000341558:G82E;ENSP00000412263:G638E;ENSP00000343124:G742E	ENSP00000297405:G742E	G	-	2	0	CSMD3	113767068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GGA		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		94	402	0	0	0	1	0	94	402				
PRR14	78994	broad.mit.edu	37	16	30664242	30664242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30664242G>A	ENST00000542965.2	+	4	778	c.322G>A	c.(322-324)Gac>Aac	p.D108N	PRR14_ENST00000300835.4_Missense_Mutation_p.D108N			Q9BWN1	PRR14_HUMAN	proline rich 14	108	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAGGCCTCCCGACCCTCTGTG	0.652																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(322-324)Gac>Aac		proline rich 14							42.0	46.0	45.0					16																	30664242		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30664242G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.322G>A	16.37:g.30664242G>A	ENSP00000441641:p.Asp108Asn					PRR14_ENST00000300835.4_Missense_Mutation_p.D108N	p.D108N			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		4	778	+			108			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.322G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372918	0.24857	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.61158	0.13;0.13	5.5	3.46	0.39613	.	0.325087	0.26116	N	0.026241	T	0.49898	0.1584	M	0.64997	1.995	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.48779	-0.9005	10	0.54805	T	0.06	-0.9373	5.4869	0.16755	0.1091:0.0:0.6967:0.1942	.	108	Q9BWN1	PRR14_HUMAN	N	81;108;108	ENSP00000300835:D108N;ENSP00000441641:D108N	ENSP00000287463:D81N	D	+	1	0	PRR14	30571743	0.859000	0.29813	0.010000	0.14722	0.110000	0.19582	2.079000	0.41577	0.587000	0.29643	0.585000	0.79938	GAC		0.652	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		69	272	0	0	0	1	0	69	272				
BPTF	2186	broad.mit.edu	37	17	65971920	65971920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65971920C>T	ENST00000321892.4	+	29	9011	c.8950C>T	c.(8950-8952)Cga>Tga	p.R2984*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.R2858*|RN7SL622P_ENST00000585292.1_RNA|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2984	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTACAAAGACGATATTATGA	0.363																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(8950-8952)Cga>Tga		bromodomain PHD finger transcription factor							86.0	84.0	85.0					17																	65971920		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65971920C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8950C>T	17.37:g.65971920C>T	ENSP00000315454:p.Arg2984*					BPTF_ENST00000306378.6_Nonsense_Mutation_p.R2858*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*	p.R2984*			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		29	9011	+	all_cancers(12;6e-11)		2984			Bromo.		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.8950C>T		.	.	.	.	.	.	.	.	.	.	C	51	18.463470	0.99905	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	.	.	.	5.64	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8102	15.5413	0.76052	0.147:0.853:0.0:0.0	.	.	.	.	X	2858;2841;2984;189	.	ENSP00000307208:R2858X	R	+	1	2	BPTF	63402382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.983000	0.70540	1.346000	0.45694	0.591000	0.81541	CGA		0.363	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		47	266	0	0	0	1	0	47	266				
F2RL2	2151	broad.mit.edu	37	5	75914417	75914417	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75914417T>A	ENST00000296641.4	-	2	318	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	39		Cleavage; by thrombin. {ECO:0000250}.			blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CCACGAAAGGTCTTAATGGGT	0.398																																						ENST00000296641.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32						c.(115-117)Acc>Tcc		coagulation factor II (thrombin) receptor-like 2							81.0	91.0	88.0					5																	75914417		2186	4293	6479	SO:0001583	missense	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75914417T>A	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.115A>T	5.37:g.75914417T>A	ENSP00000296641:p.Thr39Ser					IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron	p.T39S	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	2	318	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	39				Cleavage; by thrombin (By similarity).	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	c.115A>T	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.736183	0.30774	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.65178	-0.14;-0.08	4.65	3.42	0.39159	.	0.067630	0.56097	N	0.000031	T	0.44519	0.1297	L	0.28458	0.855	0.26358	N	0.977094	B	0.23891	0.093	B	0.23150	0.044	T	0.23797	-1.0178	10	0.14252	T	0.57	-10.413	8.9959	0.36052	0.165:0.0:0.0:0.835	.	39	O00254	PAR3_HUMAN	S	39;17	ENSP00000296641:T39S;ENSP00000426703:T17S	ENSP00000296641:T39S	T	-	1	0	F2RL2	75950173	1.000000	0.71417	0.316000	0.25252	0.700000	0.40528	1.729000	0.38115	0.595000	0.29777	0.460000	0.39030	ACC		0.398	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			99	445	0	0	0	1	0	99	445				
TMEM259	91304	broad.mit.edu	37	19	1014397	1014397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1014397C>T	ENST00000356663.3	-	2	422	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	TMEM259_ENST00000333175.5_Missense_Mutation_p.V101M	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	101						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TTGTCACGCACATGCTCCAGG	0.652																																						ENST00000356663.3																			0											c.(301-303)Gtg>Atg		transmembrane protein 259							34.0	33.0	33.0					19																	1014397		2203	4299	6502	SO:0001583	missense	91304							g.chr19:1014397C>T	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.301G>A	19.37:g.1014397C>T	ENSP00000349087:p.Val101Met					TMEM259_ENST00000333175.5_Missense_Mutation_p.V101M	p.V101M	NM_001033026.1	NP_001028198.1					2	422	-								O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.301G>A	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666893	0.67814	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.19	4.19	0.49359	.	0.140470	0.47093	D	0.000247	T	0.64811	0.2632	L	0.55213	1.73	0.58432	D	0.999995	P;P	0.46706	0.858;0.883	P;P	0.53102	0.596;0.718	T	0.65475	-0.6159	9	0.40728	T	0.16	-15.2317	15.6616	0.77190	0.0:1.0:0.0:0.0	.	101;101	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	M	101	.	ENSP00000331423:V101M	V	-	1	0	C19orf6	965397	1.000000	0.71417	0.997000	0.53966	0.308000	0.27856	5.248000	0.65421	2.182000	0.69389	0.561000	0.74099	GTG		0.652	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		27	202	0	0	0	1	0	27	202				
NAT10	55226	broad.mit.edu	37	11	34162000	34162000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34162000C>A	ENST00000257829.3	+	24	2679	c.2473C>A	c.(2473-2475)Ctg>Atg	p.L825M	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L753M	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	825	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTGAAGCGGCTGGAGATGTA	0.572																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2473-2475)Ctg>Atg		N-acetyltransferase 10 (GCN5-related)							122.0	103.0	109.0					11																	34162000		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34162000C>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2473C>A	11.37:g.34162000C>A	ENSP00000257829:p.Leu825Met					NAT10_ENST00000531159.2_Missense_Mutation_p.L753M|NAT10_ENST00000527971.1_Intron	p.L825M	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			24	2679	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	825			Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.2473C>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443659	0.63067	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.60171	0.21;0.22	5.16	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.76526	-0.2927	10	0.66056	D	0.02	-13.7691	9.1058	0.36696	0.0:0.71:0.0:0.29	.	825	Q9H0A0	NAT10_HUMAN	M	825;753	ENSP00000257829:L825M;ENSP00000433011:L753M	ENSP00000257829:L825M	L	+	1	2	NAT10	34118576	0.999000	0.42202	1.000000	0.80357	0.941000	0.58515	1.525000	0.35953	1.292000	0.44672	0.467000	0.42956	CTG		0.572	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		104	462	1	0	2.14978e-47	1	2.64632e-47	104	462				
PTK2B	2185	broad.mit.edu	37	8	27315813	27315813	+	Silent	SNP	C	C	T	rs530386451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27315813C>T	ENST00000397501.1	+	36	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000544172.1_Silent_p.I939I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	939	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCCTACAGATCGAGGGCACCC	0.557																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2815-2817)atC>atT		protein tyrosine kinase 2 beta							62.0	49.0	54.0					8																	27315813		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27315813C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2817C>T	8.37:g.27315813C>T						PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000544172.1_Silent_p.I939I	p.I939I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	36	3625	+		Ovarian(32;2.72e-05)	939			Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2817C>T	CCDS6057.1																																																																																				0.557	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		20	100	0	0	0	1	0	20	100				
TMEM170A	124491	broad.mit.edu	37	16	75498407	75498407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75498407C>A	ENST00000561878.1	-	1	189	c.92G>T	c.(91-93)gGg>gTg	p.G31V	TMEM170A_ENST00000569540.1_5'Flank|TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000357613.4_Missense_Mutation_p.G31V|TMEM170A_ENST00000567796.1_Intron|TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|RP11-77K12.1_ENST00000561887.1_5'UTR|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V	NM_145254.1	NP_660297.1	Q8WVE7	T170A_HUMAN	transmembrane protein 170A	31						integral component of membrane (GO:0016021)				endometrium(1)	1						GCACAGGGTCCCGTTGCCCAC	0.746																																						ENST00000357613.4																			0				endometrium(1)	1						c.(91-93)gGg>gTg		transmembrane protein 170A							34.0	31.0	32.0					16																	75498407		2193	4289	6482	SO:0001583	missense	124491					integral to membrane		g.chr16:75498407C>A	BX648484	CCDS10917.1	16q23.1	2008-06-10	2008-06-10	2008-06-10	ENSG00000166822	ENSG00000166822			29577	protein-coding gene	gene with protein product			"""transmembrane protein 170"""	TMEM170		12477932	Standard	NM_145254		Approved	FLJ37611	uc002fee.1	Q8WVE7	OTTHUMG00000137614	ENST00000561878.1:c.92G>T	16.37:g.75498407C>A	ENSP00000454404:p.Gly31Val					TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000567796.1_Intron|RP11-77K12.1_ENST00000561887.1_5'UTR|TMEM170A_ENST00000566980.1_Intron|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000561878.1_Missense_Mutation_p.G31V	p.G31V			Q8WVE7	T170A_HUMAN			1	180	-			31					B2R4R3|B4DPS4|D3DUK2|Q7Z6F3	Missense_Mutation	SNP	ENST00000561878.1	37	c.92G>T	CCDS10917.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441336	0.63067	.	.	ENSG00000166822	ENST00000357613	.	.	.	5.5	4.55	0.56014	.	0.196110	0.53938	D	0.000044	T	0.29882	0.0747	N	0.12182	0.205	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.12502	-1.0545	9	0.15952	T	0.53	-6.9541	9.2532	0.37568	0.0:0.9036:0.0:0.0964	.	31;31	Q8WVE7;Q8WVE7-2	T170A_HUMAN;.	V	31	.	ENSP00000350230:G31V	G	-	2	0	TMEM170A	74055908	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	0.978000	0.29488	2.593000	0.87608	0.655000	0.94253	GGG		0.746	TMEM170A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269030.2	NM_145254		42	124	1	0	3.38236e-24	1	3.86174e-24	42	124				
DHRS11	79154	broad.mit.edu	37	17	34958504	34958504	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34958504C>A	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'UTR|MRM1_ENST00000250156.7_Missense_Mutation_p.L89I	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GGCCGAGCTGCTCCGGATGGC	0.687																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(265-267)Ctc>Atc		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							24.0	29.0	27.0					17																	34958504		2196	4285	6481	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958504C>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958504C>A						MRM1_ENST00000585770.1_5'UTR	p.L89I	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	504	+		Breast(25;0.00957)|Ovarian(249;0.17)	89					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.265C>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090167	0.36855	.	.	ENSG00000129282	ENST00000250156	T	0.34859	1.34	4.9	3.84	0.44239	RNA 2-O ribose methyltransferase, substrate binding (2);	0.316156	0.30859	N	0.008730	T	0.32763	0.0840	L	0.41961	1.31	0.80722	D	1	B	0.33583	0.418	B	0.40329	0.326	T	0.04737	-1.0930	10	0.22706	T	0.39	-16.5177	10.6441	0.45610	0.0:0.7042:0.2958:0.0	.	89	Q6IN84	MRM1_HUMAN	I	89	ENSP00000250156:L89I	ENSP00000250156:L89I	L	+	1	0	MRM1	32032617	0.955000	0.32602	0.992000	0.48379	0.188000	0.23474	1.339000	0.33885	2.423000	0.82170	0.555000	0.69702	CTC		0.687	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		78	324	1	0	6.09464e-36	1	7.28682e-36	78	324				
ZNF592	9640	broad.mit.edu	37	15	85341876	85341876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85341876G>T	ENST00000560079.2	+	8	3082	c.2794G>T	c.(2794-2796)Gac>Tac	p.D932Y	ZNF592_ENST00000299927.3_Missense_Mutation_p.D932Y	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	932					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCTTCAGCGGACACATCCTC	0.622																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(2794-2796)Gac>Tac		zinc finger protein 592							43.0	45.0	44.0					15																	85341876		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85341876G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2794G>T	15.37:g.85341876G>T	ENSP00000452877:p.Asp932Tyr					ZNF592_ENST00000560079.2_Missense_Mutation_p.D932Y	p.D932Y			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2816	+			932					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.2794G>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.092952	0.36952	.	.	ENSG00000166716	ENST00000299927	T	0.00622	6.16	4.75	4.75	0.60458	.	0.330880	0.31721	N	0.007167	T	0.01627	0.0052	L	0.32530	0.975	0.37890	D	0.930687	D	0.63880	0.993	P	0.59487	0.858	T	0.73294	-0.4028	10	0.59425	D	0.04	-27.3243	15.2915	0.73870	0.0:0.0:1.0:0.0	.	932	Q92610	ZN592_HUMAN	Y	932	ENSP00000299927:D932Y	ENSP00000299927:D932Y	D	+	1	0	ZNF592	83142880	0.996000	0.38824	0.621000	0.29145	0.235000	0.25334	5.113000	0.64640	2.439000	0.82584	0.655000	0.94253	GAC		0.622	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		48	213	1	0	5.73435e-26	1	6.59582e-26	48	213				
ZNF334	55713	broad.mit.edu	37	20	45131661	45131661	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45131661T>G	ENST00000347606.4	-	5	499	c.317A>C	c.(316-318)aAa>aCa	p.K106T	ZNF334_ENST00000457685.2_Missense_Mutation_p.K68T|ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATCAGTGTTTTGTTGCTGAA	0.353																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(202-204)aAa>aCa		zinc finger protein 334							104.0	87.0	93.0					20																	45131661		2203	4299	6502	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131661T>G	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.317A>C	20.37:g.45131661T>G	ENSP00000255129:p.Lys106Thr					ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T|ZNF334_ENST00000347606.4_Missense_Mutation_p.K106T	p.K68T			Q9HCZ1	ZN334_HUMAN			6	1526	-		Myeloproliferative disorder(115;0.0122)	106			KRAB.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.203A>C	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178949	0.38511	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.10288	3.12;2.89	3.26	-2.47	0.06442	.	.	.	.	.	T	0.09113	0.0225	L	0.52905	1.665	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.34477	-0.9827	9	0.35671	T	0.21	.	4.577	0.12238	0.0:0.309:0.163:0.528	.	68;106;129	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	T	68;106	ENSP00000402582:K68T;ENSP00000255129:K106T	ENSP00000255129:K106T	K	-	2	0	ZNF334	44565068	0.001000	0.12720	0.000000	0.03702	0.780000	0.44128	-0.017000	0.12590	-0.707000	0.05022	0.482000	0.46254	AAA		0.353	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			38	170	0	0	0	1	0	38	170				
WT1-AS	51352	broad.mit.edu	37	11	32460538	32460538	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32460538G>A	ENST00000395900.1	+	0	1416				WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000478367.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AAAAATCGAGGCTGGGTAGGA	0.562																																						ENST00000395900.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6															56.0	55.0	55.0					11																	32460538		2202	4299	6501			0							g.chr11:32460538G>A	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460538G>A						WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000426618.2_RNA		NR_023920.1						0	1416	+								Q4KMY0|Q96A27	RNA	SNP	ENST00000395900.1	37																																																																																						0.562	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920		50	220	0	0	0	1	0	50	220				
AGTPBP1	23287	broad.mit.edu	37	9	88284449	88284449	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88284449T>G	ENST00000357081.3	-	8	757	c.613A>C	c.(613-615)Atg>Ctg	p.M205L	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	205					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATTTTAAACATCAGTTCCACA	0.343																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(613-615)Atg>Ctg		ATP/GTP binding protein 1							101.0	95.0	97.0					9																	88284449		2203	4298	6501	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88284449T>G	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.613A>C	9.37:g.88284449T>G	ENSP00000349592:p.Met205Leu					AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L	p.M205L			Q9UPW5	CBPC1_HUMAN			8	757	-			205					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.613A>C		.	.	.	.	.	.	.	.	.	.	T	4.883	0.164042	0.09287	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.26957	1.7;1.7;2.17;2.17;1.99;1.7;1.7	5.76	-1.51	0.08664	Armadillo-like helical (1);Armadillo-type fold (1);	0.313564	0.42964	N	0.000628	T	0.07143	0.0181	N	0.03154	-0.405	0.34644	D	0.720952	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.45338	-0.9268	10	0.02654	T	1	-6.8687	7.3001	0.26415	0.3228:0.0:0.3568:0.3204	.	257;205;43;205	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	L	147;205;205;257;43;205;147	ENSP00000338512:M147L;ENSP00000349592:M205L;ENSP00000365251:M205L;ENSP00000365277:M257L;ENSP00000402804:M43L;ENSP00000365249:M205L;ENSP00000365248:M147L	ENSP00000338512:M147L	M	-	1	0	AGTPBP1	87474269	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	1.346000	0.33964	-0.165000	0.10908	0.533000	0.62120	ATG		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		51	230	0	0	0	1	0	51	230				
NPC1	4864	broad.mit.edu	37	18	21121149	21121149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21121149G>T	ENST00000269228.5	-	16	2951	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	799					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTCTGACACAGCAAAAGATGT	0.443																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2395-2397)tgC>tgA		Niemann-Pick disease, type C1							91.0	91.0	91.0					18																	21121149		2203	4300	6503	SO:0001587	stop_gained	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21121149G>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2397C>A	18.37:g.21121149G>T	ENSP00000269228:p.Cys799*					NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*|NPC1_ENST00000540608.1_5'UTR	p.C799*	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			16	2951	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		799					B4DET3|Q9P130	Nonsense_Mutation	SNP	ENST00000269228.5	37	c.2397C>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	38	7.037544	0.98021	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	.	.	.	5.89	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.0474	10.5037	0.44821	0.1421:0.0:0.8579:0.0	.	.	.	.	X	799;481;644	.	ENSP00000269228:C799X	C	-	3	2	NPC1	19375147	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.812000	0.47994	2.793000	0.96121	0.561000	0.74099	TGC		0.443	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		72	371	1	0	2.48295e-43	1	3.03066e-43	72	371				
CYP2S1	29785	broad.mit.edu	37	19	41704369	41704369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704369C>T	ENST00000310054.4	+	4	712	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	166					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCCCCAGGACGCCCATTCGA	0.627																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(496-498)Cgc>Tgc		cytochrome P450, family 2, subfamily S, polypeptide 1							118.0	113.0	114.0					19																	41704369		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704369C>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.496C>T	19.37:g.41704369C>T	ENSP00000308032:p.Arg166Cys					CYP2S1_ENST00000542619.1_Intron	p.R166C	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			4	712	+			166					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.496C>T	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.210337	0.39003	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.69175	-0.38	5.14	-0.331	0.12679	.	2.019370	0.02308	N	0.071858	T	0.72795	0.3505	M	0.82056	2.57	0.09310	N	1	D	0.57571	0.98	P	0.48227	0.571	T	0.58719	-0.7587	10	0.66056	D	0.02	.	6.1916	0.20528	0.2612:0.568:0.0:0.1708	.	166	Q96SQ9	CP2S1_HUMAN	C	166	ENSP00000308032:R166C	ENSP00000301173:R166C	R	+	1	0	CYP2S1	46396209	0.000000	0.05858	0.095000	0.20976	0.397000	0.30659	-0.565000	0.05929	0.158000	0.19367	0.306000	0.20318	CGC		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			130	678	0	0	0	1	0	130	678				
LYG2	254773	broad.mit.edu	37	2	99860445	99860445	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99860445C>A	ENST00000409238.1	-	4	541				LYG2_ENST00000409679.1_Missense_Mutation_p.E179D|LYG2_ENST00000423800.1_Intron|LYG2_ENST00000333017.2_Intron			Q86SG7	LYG2_HUMAN	lysozyme G-like 2						cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AAACAAAGTACTCAGAATACA	0.502																																						ENST00000409679.1																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(535-537)gaG>gaT		lysozyme G-like 2							85.0	81.0	82.0					2																	99860445		2203	4300	6503	SO:0001627	intron_variant	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99860445C>A	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.520+16G>T	2.37:g.99860445C>A						LYG2_ENST00000409238.1_Intron|LYG2_ENST00000333017.2_Intron	p.E179D			Q86SG7	LYG2_HUMAN			5	681	-			0	GLSAFKSG -> RLYSEYFY (in Ref. 4).				Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.537G>T	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929803	0.18131	.	.	ENSG00000185674	ENST00000409679	.	.	.	3.75	0.946	0.19549	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.22977	-1.0201	6	.	.	.	.	6.9098	0.24329	0.0:0.7581:0.0:0.2419	.	179	C9J4J0	.	D	179	.	.	E	-	3	2	LYG2	99226877	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.177000	0.16801	0.185000	0.20105	0.555000	0.69702	GAG		0.502	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		97	319	1	0	1.01947e-62	1	1.28529e-62	97	319				
IQCG	84223	broad.mit.edu	37	3	197665522	197665522	+	Missense_Mutation	SNP	G	G	A	rs139671579	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665522G>A	ENST00000265239.6	-	5	836	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000455191.1_Missense_Mutation_p.R138W|IQCG_ENST00000453254.1_Missense_Mutation_p.R138W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	138						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACAGCGAACCGGCCTCTGTGT	0.428													G|||	4	0.000798722	0.0	0.0	5008	,	,		17292	0.0		0.001	False		,,,				2504	0.0031					ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(412-414)Cgg>Tgg		IQ motif containing G		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	270.0	273.0	272.0		412,412	4.3	0.1	3	dbSNP_134	272	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	IQCG	NM_001134435.1,NM_032263.3	101,101	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	possibly-damaging,possibly-damaging	138/444,138/444	197665522	10,12996	2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665522G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.412C>T	3.37:g.197665522G>A	ENSP00000265239:p.Arg138Trp					IQCG_ENST00000455191.1_Missense_Mutation_p.R138W|IQCG_ENST00000453254.1_Missense_Mutation_p.R138W	p.R138W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	836	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		138					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.412C>T	CCDS3331.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.15	2.749213	0.49257	0.0	0.001163	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.45276	0.9;0.9;0.99;0.9	4.32	4.32	0.51571	.	1.640010	0.03032	N	0.152233	T	0.33381	0.0861	N	0.08118	0	0.09310	N	1	D;P	0.62365	0.991;0.914	P;B	0.46975	0.533;0.431	T	0.37979	-0.9682	10	0.72032	D	0.01	-10.3603	9.0042	0.36102	0.1056:0.0:0.8944:0.0	.	138;138	C9JKX8;Q9H095	.;IQCG_HUMAN	W	138;138;138;119	ENSP00000265239:R138W;ENSP00000407736:R138W;ENSP00000389897:R138W;ENSP00000406411:R119W	ENSP00000265239:R138W	R	-	1	2	IQCG	199149919	0.052000	0.20516	0.060000	0.19600	0.004000	0.04260	2.450000	0.44943	2.345000	0.79718	0.558000	0.71614	CGG		0.428	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		285	1382	0	0	0	1	0	285	1382				
MDN1	23195	broad.mit.edu	37	6	90455062	90455062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90455062G>A	ENST00000369393.3	-	29	4223	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1370					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCGAGTCTCCGCATGCCCTCA	0.453																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(4108-4110)Cgg>Tgg		MDN1, midasin homolog (yeast)							139.0	121.0	127.0					6																	90455062		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90455062G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4108C>T	6.37:g.90455062G>A	ENSP00000358400:p.Arg1370Trp					MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W	p.R1370W			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	29	4223	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1370					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4108C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052747	0.55218	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.45276	0.9;0.9	5.87	4.0	0.46444	.	0.106693	0.64402	D	0.000008	T	0.58509	0.2127	M	0.88979	2.995	0.50313	D	0.999868	D	0.60575	0.988	P	0.62560	0.904	T	0.68773	-0.5320	10	0.59425	D	0.04	.	14.2802	0.66205	0.0:0.0:0.5168:0.4832	.	1370	Q9NU22	MDN1_HUMAN	W	1370	ENSP00000358400:R1370W;ENSP00000413970:R1370W	ENSP00000358400:R1370W	R	-	1	2	MDN1	90511783	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.944000	0.29043	1.456000	0.47831	0.655000	0.94253	CGG		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			85	365	0	0	0	1	0	85	365				
GON4L	54856	broad.mit.edu	37	1	155733187	155733187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155733187C>A	ENST00000368331.1	-	22	4690	c.4642G>T	c.(4642-4644)Gca>Tca	p.A1548S	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1548S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1548	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCCAACTGCTTCATCCGTC	0.502																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4642-4644)Gca>Tca		gon-4-like (C. elegans)							50.0	52.0	51.0					1																	155733187		1988	4179	6167	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155733187C>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4642G>T	1.37:g.155733187C>A	ENSP00000357315:p.Ala1548Ser					GON4L_ENST00000368331.1_Missense_Mutation_p.A1548S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S	p.A1548S			Q3T8J9	GON4L_HUMAN			22	4764	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1548			Glu-rich.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4642G>T		.	.	.	.	.	.	.	.	.	.	C	15.06	2.720281	0.48728	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10382	2.88;2.88;2.88	4.93	1.92	0.25849	.	0.589122	0.16803	N	0.198911	T	0.02533	0.0077	L	0.47716	1.5	0.09310	N	1	P;P;P	0.42296	0.512;0.666;0.775	B;B;B	0.38156	0.15;0.137;0.266	T	0.37820	-0.9689	10	0.10377	T	0.69	.	8.1656	0.31224	0.0:0.7227:0.1293:0.148	.	744;1548;1548	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	S	1548	ENSP00000396117:A1548S;ENSP00000357315:A1548S;ENSP00000271883:A1548S	ENSP00000271883:A1548S	A	-	1	0	GON4L	153999811	0.018000	0.18449	0.002000	0.10522	0.413000	0.31143	0.570000	0.23653	0.646000	0.30693	-0.291000	0.09656	GCA		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		17	74	1	0	4.7546e-09	1	4.99022e-09	17	74				
EXT2	2132	broad.mit.edu	37	11	44253909	44253909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44253909C>T	ENST00000343631.3	+	11	1798	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	EXT2_ENST00000533608.1_Missense_Mutation_p.R557W|EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000395673.3_Missense_Mutation_p.R590W			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	557					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTAGGTCTGGCGGGAATTTCC	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32	GRCh37	CD010608	EXT2	D		c.(1768-1770)Cgg>Tgg		exostosin glycosyltransferase 2							129.0	115.0	120.0					11																	44253909		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44253909C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1669C>T	11.37:g.44253909C>T	ENSP00000342656:p.Arg557Trp					EXT2_ENST00000533608.1_Missense_Mutation_p.R557W|EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000343631.3_Missense_Mutation_p.R557W	p.R590W	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			11	1824	+			557					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1768C>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002631	0.74932	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.08	4.14	0.48551	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.997	D	0.94999	0.8141	10	0.87932	D	0	-6.3232	13.2204	0.59883	0.2891:0.7108:0.0:0.0	.	557;567;567;557;570	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	W	557;567;590;557	ENSP00000431173:R557W;ENSP00000351509:R567W;ENSP00000379032:R590W;ENSP00000342656:R557W	ENSP00000342656:R557W	R	+	1	2	EXT2	44210485	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.843000	0.62838	1.093000	0.41377	0.591000	0.81541	CGG		0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		52	229	0	0	0	1	0	52	229				
SNED1	25992	broad.mit.edu	37	2	241988103	241988103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241988103G>A	ENST00000310397.8	+	10	1424	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SNED1_ENST00000401884.1_Missense_Mutation_p.R475H|SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	475	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGAGTGCCGCAACGGAGGC	0.637																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(1423-1425)cGc>cAc		sushi, nidogen and EGF-like domains 1							44.0	55.0	52.0					2																	241988103		2065	4204	6269	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241988103G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1424G>A	2.37:g.241988103G>A	ENSP00000308893:p.Arg475His					SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|SNED1_ENST00000401884.1_Missense_Mutation_p.R475H|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	p.R475H	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	10	1424	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	475			EGF-like 6.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.1424G>A	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626007|2.626007	0.46840|0.46840	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.|T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03	4.81|4.81	3.01|3.01	0.34805|0.34805	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.56097	.|D	.|0.000038	T|T	0.74344|0.74344	0.3704|0.3704	M|M	0.78801|0.78801	2.425|2.425	0.33775|0.33775	D|D	0.623493|0.623493	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.76984|0.76984	-0.2756|-0.2756	5|10	.|0.20046	.|T	.|0.44	.|.	10.5754|10.5754	0.45225|0.45225	0.16:0.0:0.84:0.0|0.16:0.0:0.84:0.0	.|.	.|475	.|Q8TER0	.|SNED1_HUMAN	T|H	133|475	.|ENSP00000384871:R475H;ENSP00000386007:R475H;ENSP00000308893:R475H;ENSP00000342992:R475H	.|ENSP00000308893:R475H	A|R	+|+	1|2	0|0	SNED1|SNED1	241636776|241636776	0.913000|0.913000	0.31002|0.31002	0.525000|0.525000	0.27900|0.27900	0.212000|0.212000	0.24457|0.24457	1.302000|1.302000	0.33459|0.33459	0.455000|0.455000	0.26910|0.26910	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		29	80	0	0	0	1	0	29	80				
WDFY3	23001	broad.mit.edu	37	4	85605150	85605150	+	Silent	SNP	G	G	A	rs372610350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85605150G>A	ENST00000295888.4	-	63	10079	c.9672C>T	c.(9670-9672)aaC>aaT	p.N3224N	WDFY3_ENST00000322366.6_Silent_p.N3207N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3224	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTCCCATTCGTTCATCTCCG	0.478																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9619-9621)aaC>aaT		WD repeat and FYVE domain containing 3		G		0,4406		0,0,2203	142.0	121.0	128.0		9672	-1.6	1.0	4		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDFY3	NM_014991.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3224/3527	85605150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85605150G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9672C>T	4.37:g.85605150G>A						WDFY3_ENST00000295888.4_Silent_p.N3224N	p.N3207N			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	62	10028	-		Hepatocellular(203;0.114)	3224					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.9621C>T	CCDS3609.1																																																																																				0.478	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		72	279	0	0	0	1	0	72	279				
CREB3L4	148327	broad.mit.edu	37	1	153945234	153945234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153945234C>T	ENST00000368607.3	+	5	824	c.558C>T	c.(556-558)acC>acT	p.T186T	CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000368601.1_Silent_p.T186T|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Silent_p.T186T	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	186					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGTCAAACCCTGTTCCTGA	0.607																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(556-558)acC>acT		cAMP responsive element binding protein 3-like 4							57.0	52.0	53.0					1																	153945234		2203	4300	6503	SO:0001819	synonymous_variant	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153945234C>T	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.558C>T	1.37:g.153945234C>T						CREB3L4_ENST00000368601.1_Silent_p.T186T|CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000271889.4_Silent_p.T186T	p.T186T	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	824	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		186					D3DV62|Q5T4L0|Q86YW6	Silent	SNP	ENST00000368607.3	37	c.558C>T	CCDS1056.1																																																																																				0.607	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		39	156	0	0	0	1	0	39	156				
LRRTM3	347731	broad.mit.edu	37	10	68686696	68686696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686696C>T	ENST00000361320.4	+	2	600	c.22C>T	c.(22-24)Cta>Tta	p.L8L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	8					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGTAATTAGGCTACTGAGCGG	0.403																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(22-24)Cta>Tta		leucine rich repeat transmembrane neuronal 3							63.0	59.0	61.0					10																	68686696		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68686696C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.22C>T	10.37:g.68686696C>T						CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	p.L8L	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	600	+			8					A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.22C>T	CCDS7270.1																																																																																				0.403	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		46	160	0	0	0	1	0	46	160				
ABCA8	10351	broad.mit.edu	37	17	66864494	66864494	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66864494T>G	ENST00000269080.2	-	37	4732	c.4595A>C	c.(4594-4596)aAa>aCa	p.K1532T	ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T|ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1532					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGCTCTGTTTAACTGCATA	0.348																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(4594-4596)aAa>aCa		ATP-binding cassette, sub-family A (ABC1), member 8							101.0	96.0	97.0					17																	66864494		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66864494T>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4595A>C	17.37:g.66864494T>G	ENSP00000269080:p.Lys1532Thr					ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T|ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T	p.K1532T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			37	4732	-	Breast(10;4.56e-13)		1532					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4595A>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250391	0.59212	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.81739	-1.53;-1.53	4.6	3.52	0.40303	.	0.000000	0.52532	D	0.000065	D	0.92031	0.7475	H	0.97440	4.005	0.40588	D	0.981466	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.91842	0.5484	10	0.87932	D	0	.	8.1627	0.31209	0.0:0.0918:0.0:0.9082	.	1572;1572;1532	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	T	1532;1572	ENSP00000269080:K1532T;ENSP00000402814:K1572T	ENSP00000269080:K1532T	K	-	2	0	ABCA8	64376089	1.000000	0.71417	0.986000	0.45419	0.598000	0.36846	5.297000	0.65704	0.900000	0.36469	0.533000	0.62120	AAA		0.348	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		53	218	0	0	0	1	0	53	218				
ERC2	26059	broad.mit.edu	37	3	56044551	56044551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56044551C>T	ENST00000288221.6	-	9	2101	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	616						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGGAAGGATTCTATCTCTTCT	0.403																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(1846-1848)Gaa>Aaa		ELKS/RAB6-interacting/CAST family member 2							244.0	225.0	231.0					3																	56044551		1858	4099	5957	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56044551C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1846G>A	3.37:g.56044551C>T	ENSP00000288221:p.Glu616Lys						p.E616K	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	9	2101	-			616					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.1846G>A	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430625	0.83776	.	.	ENSG00000187672	ENST00000288221	T	0.50001	0.76	6.02	5.14	0.70334	.	0.094954	0.64402	D	0.000001	T	0.42810	0.1219	L	0.44542	1.39	0.48571	D	0.999677	B	0.26708	0.157	B	0.25140	0.058	T	0.22977	-1.0201	10	0.33940	T	0.23	-21.3003	16.7283	0.85429	0.1304:0.8695:0.0:0.0	.	616	O15083	ERC2_HUMAN	K	616	ENSP00000288221:E616K	ENSP00000288221:E616K	E	-	1	0	ERC2	56019591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.548000	0.49413	0.655000	0.94253	GAA		0.403	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		99	436	0	0	0	1	0	99	436				
NOC4L	79050	broad.mit.edu	37	12	132636135	132636135	+	Silent	SNP	C	C	T	rs373511960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636135C>T	ENST00000330579.1	+	12	1221	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	NOC4L_ENST00000538784.1_Silent_p.L9L|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	394					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CATCTGTAACCTGCTGCGCCG	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		13210	0.0		0.001	False		,,,				2504	0.0					ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1180-1182)Ctg>Ttg		nucleolar complex associated 4 homolog (S. cerevisiae)		C		1,4367		0,1,2183	18.0	21.0	20.0		1180	0.8	1.0	12		20	2,8556		0,2,4277	no	coding-synonymous	NOC4L	NM_024078.1		0,3,6460	TT,TC,CC		0.0234,0.0229,0.0232		394/517	132636135	3,12923	2184	4279	6463	SO:0001819	synonymous_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132636135C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1180C>T	12.37:g.132636135C>T						NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_Silent_p.L9L	p.L394L	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	12	1221	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		394					Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	c.1180C>T	CCDS9277.1																																																																																				0.736	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		6	141	0	0	0	1	0	6	141				
SETD5	55209	broad.mit.edu	37	3	9514972	9514972	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9514972C>A	ENST00000406341.1	+	19	3438	c.3248C>A	c.(3247-3249)gCt>gAt	p.A1083D	SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D|SETD5_ENST00000402466.1_Missense_Mutation_p.A985D|SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1083										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAAAATTCTGCTGGTGGGGGA	0.488																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2953-2955)gCt>gAt		SET domain containing 5							53.0	54.0	53.0					3																	9514972		1984	4155	6139	SO:0001583	missense	55209							g.chr3:9514972C>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3248C>A	3.37:g.9514972C>A	ENSP00000383939:p.Ala1083Asp					SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D|SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D|SETD5_ENST00000406341.1_Missense_Mutation_p.A1083D	p.A985D			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	21	3722	+	Medulloblastoma(99;0.227)		1083	Y -> H (in Ref. 2; CAH10497).				Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2954C>A	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937907|1.937907	0.34189|0.34189	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.91792|.	-2.59;-2.91;-2.59;-2.59;-2.91|.	3.96|3.96	0.297|0.297	0.15762|0.15762	.|.	1.176010|.	0.06525|.	N|.	0.740437|.	T|.	0.15955|.	0.0384|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B|.	0.36535|.	0.557;0.403;0.032|.	B;B;B|.	0.30572|.	0.117;0.083;0.011|.	T|.	0.28618|.	-1.0038|.	10|.	0.72032|.	D|.	0.01|.	0.0521|0.0521	5.9021|5.9021	0.18972|0.18972	0.0:0.6:0.1671:0.2328|0.0:0.6:0.1671:0.2328	.|.	752;985;1083|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	D|X	1083;985;1083;1102;985|750;413	ENSP00000385852:A1083D;ENSP00000384429:A985D;ENSP00000383939:A1083D;ENSP00000384114:A1102D;ENSP00000302028:A985D|.	ENSP00000302028:A985D|.	A|C	+|+	2|3	0|2	SETD5|SETD5	9489972|9489972	0.793000|0.793000	0.28825|0.28825	0.898000|0.898000	0.35279|0.35279	0.997000|0.997000	0.91878|0.91878	1.464000|1.464000	0.35288|0.35288	0.152000|0.152000	0.19188|0.19188	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.488	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		29	149	1	0	1.61788e-16	1	1.7777e-16	29	149				
GLDC	2731	broad.mit.edu	37	9	6592198	6592198	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6592198A>G	ENST00000321612.6	-	11	1577	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	476					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTTTTCATTGACTGTTTCATC	0.378																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1426-1428)gTc>gCc		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						87.0	80.0	83.0					9																	6592198		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6592198A>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1427T>C	9.37:g.6592198A>G	ENSP00000370737:p.Val476Ala						p.V476A	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	11	1577	-		Acute lymphoblastic leukemia(23;0.161)	476					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1427T>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697935	0.88830	.	.	ENSG00000178445	ENST00000321612	D	0.95690	-3.78	5.14	5.14	0.70334	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.133319	0.49916	D	0.000129	D	0.96781	0.8949	M	0.78049	2.395	0.80722	D	1	P	0.52692	0.955	P	0.55749	0.783	D	0.97172	0.9845	10	0.66056	D	0.02	-24.8041	14.9935	0.71412	1.0:0.0:0.0:0.0	.	476	P23378	GCSP_HUMAN	A	476	ENSP00000370737:V476A	ENSP00000370737:V476A	V	-	2	0	GLDC	6582198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.244000	0.89823	1.933000	0.56026	0.459000	0.35465	GTC		0.378	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		64	213	0	0	0	1	0	64	213				
KY	339855	broad.mit.edu	37	3	134362215	134362215	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134362215A>G	ENST00000423778.2	-	3	266	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KY_ENST00000503669.1_Silent_p.L69L|KY_ENST00000508956.1_Intron	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	69					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTCTCCACCAAGTTTTCTATT	0.547																																						ENST00000423778.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(205-207)Ttg>Ctg		kyphoscoliosis peptidase							70.0	79.0	77.0					3																	134362215		1948	4136	6084	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134362215A>G	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.205T>C	3.37:g.134362215A>G						KY_ENST00000503669.1_Silent_p.L69L|KY_ENST00000508956.1_Intron	p.L69L	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN			3	266	-			69					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.205T>C	CCDS46920.1																																																																																				0.547	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		31	130	0	0	0	1	0	31	130				
TBC1D9	23158	broad.mit.edu	37	4	141543992	141543992	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543992G>A	ENST00000442267.2	-	21	3232	c.3158C>T	c.(3157-3159)aCg>aTg	p.T1053M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1053							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACTGCTGCCGTGGCGTGGTA	0.567																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3157-3159)aCg>aTg		TBC1 domain family, member 9 (with GRAM domain)							29.0	30.0	30.0					4																	141543992		2056	4228	6284	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543992G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3158C>T	4.37:g.141543992G>A	ENSP00000411197:p.Thr1053Met						p.T1053M	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3232	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1053					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3158C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721948	0.68959	.	.	ENSG00000109436	ENST00000442267	T	0.66460	-0.21	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.48738	0.588	T	0.74478	-0.3652	10	0.72032	D	0.01	.	18.9312	0.92566	0.0:0.0:1.0:0.0	.	1053	Q6ZT07	TBCD9_HUMAN	M	1053	ENSP00000411197:T1053M	ENSP00000411197:T1053M	T	-	2	0	TBC1D9	141763442	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	8.032000	0.88838	2.461000	0.83175	0.655000	0.94253	ACG		0.567	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		4	87	0	0	0	1	0	4	87				
GUCA1C	9626	broad.mit.edu	37	3	108634989	108634989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108634989C>T	ENST00000261047.3	-	3	559	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N|GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	143	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.D143Y(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTGTTTATATCGATCTTATGG	0.418																																					NSCLC(157;1360 1999 30631 40189 44208)	ENST00000261047.3																			1	Substitution - Missense(1)	p.D143Y(1)	lung(1)	endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						c.(427-429)Gat>Aat		guanylate cyclase activator 1C							169.0	163.0	165.0					3																	108634989		2203	4300	6503	SO:0001583	missense	9626				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr3:108634989C>T	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.427G>A	3.37:g.108634989C>T	ENSP00000261047:p.Asp143Asn					GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N|GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N	p.D143N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN			3	559	-			143			EF-hand 4.		O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	c.427G>A	CCDS2954.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179294	0.57800	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	D;D;D	0.90955	-2.76;-2.76;-2.76	4.32	0.218	0.15270	EF-hand-like domain (1);	0.272597	0.40385	N	0.001114	D	0.95705	0.8603	H	0.97158	3.95	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.811	D	0.88836	0.3309	10	0.87932	D	0	.	5.8719	0.18809	0.0:0.5256:0.2963:0.1781	.	143;143	C9JNI2;O95843	.;GUC1C_HUMAN	N	143	ENSP00000377535:D143N;ENSP00000261047:D143N;ENSP00000417761:D143N	ENSP00000261047:D143N	D	-	1	0	GUCA1C	110117679	0.668000	0.27493	0.000000	0.03702	0.792000	0.44763	1.525000	0.35953	-0.203000	0.10251	0.651000	0.88453	GAT		0.418	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		86	404	0	0	0	1	0	86	404				
CROCCP2	84809	broad.mit.edu	37	1	16958859	16958859	+	lincRNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16958859C>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGCCCAGCTCTGTCACTCTG	0.567																																						ENST00000412962.1																			0																																																			0							g.chr1:16958859C>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958859C>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.567	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	182	1	0	0.248553	1	0.24873	7	182				
DCSTAMP	81501	broad.mit.edu	37	8	105361526	105361526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105361526G>A	ENST00000297581.2	+	2	795	c.746G>A	c.(745-747)aGa>aAa	p.R249K	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R249K	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	249					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TACATCACCAGACAATTTGTT	0.493																																						ENST00000297581.2																			0											c.(745-747)aGa>aAa		dendrocyte expressed seven transmembrane protein							100.0	95.0	97.0					8																	105361526		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361526G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.746G>A	8.37:g.105361526G>A	ENSP00000297581:p.Arg249Lys					DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R249K	p.R249K	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	795	+			249					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.746G>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020304	0.07634	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.27557	1.66;1.66	5.76	1.79	0.24919	Dendritic cell-specific transmembrane protein-like (1);	0.327641	0.37669	N	0.001987	T	0.09512	0.0234	N	0.01751	-0.74	0.09310	N	0.999992	B	0.06786	0.001	B	0.08055	0.003	T	0.32771	-0.9894	9	.	.	.	-6.85	7.061	0.25125	0.4599:0.0:0.5401:0.0	.	249	Q9H295	TM7S4_HUMAN	K	249	ENSP00000297581:R249K;ENSP00000428869:R249K	.	R	+	2	0	TM7SF4	105430702	0.788000	0.28762	0.988000	0.46212	0.955000	0.61496	1.224000	0.32539	0.721000	0.32231	0.555000	0.69702	AGA		0.493	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		96	396	0	0	0	1	0	96	396				
ZNF853	54753	broad.mit.edu	37	7	6662260	6662260	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6662260C>T	ENST00000457543.3	+	3	2196	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	546							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						GCTCCTACTGCGCCAAGCGCT	0.677																																						ENST00000457543.3																			0				endometrium(1)|kidney(1)	2						c.(1636-1638)tgC>tgT		zinc finger protein 853							11.0	16.0	14.0					7																	6662260		687	1587	2274	SO:0001819	synonymous_variant	54753					intracellular	nucleic acid binding|zinc ion binding	g.chr7:6662260C>T	AL133055	CCDS59048.1	7p22.1	2013-01-08				ENSG00000236609		"""Zinc fingers, C2H2-type"""	21767	protein-coding gene	gene with protein product							Standard	NM_017560		Approved	DKFZp434J1015	uc011jwz.2	P0CG23		ENST00000457543.3:c.1638C>T	7.37:g.6662260C>T							p.C546C	NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN			3	2196	+			546						Silent	SNP	ENST00000457543.3	37	c.1638C>T	CCDS59048.1																																																																																				0.677	ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324169.2	NM_017560		17	45	0	0	0	1	0	17	45				
COL6A5	256076	broad.mit.edu	37	3	130095372	130095372	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130095372C>A	ENST00000432398.2	+	3	854	c.360C>A	c.(358-360)acC>acA	p.T120T	COL6A5_ENST00000265379.6_Silent_p.T120T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	120	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCATAGGACCTACTTCTCTG	0.512																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(358-360)acC>acA		collagen, type VI, alpha 5							64.0	61.0	62.0					3																	130095372		692	1591	2283	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130095372C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.360C>A	3.37:g.130095372C>A						COL6A5_ENST00000432398.2_Silent_p.T120T	p.T120T			A8TX70	CO6A5_HUMAN			3	854	+			120			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.360C>A																																																																																					0.512	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		21	58	1	0	1.96292e-10	1	2.08093e-10	21	58				
MMS22L	253714	broad.mit.edu	37	6	97634384	97634384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97634384T>G	ENST00000275053.4	-	15	2487	c.2222A>C	c.(2221-2223)gAt>gCt	p.D741A	MMS22L_ENST00000369251.2_Missense_Mutation_p.D701A	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	741					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCAGCTGCATCCGCAAGTTG	0.393																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2221-2223)gAt>gCt		MMS22-like, DNA repair protein							51.0	50.0	50.0					6																	97634384		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97634384T>G		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2222A>C	6.37:g.97634384T>G	ENSP00000275053:p.Asp741Ala					MMS22L_ENST00000369251.2_Missense_Mutation_p.D701A	p.D741A	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			15	2487	-			741					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.2222A>C	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307784	0.60305	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.29655	1.89;1.56	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.71581	2.175	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.52388	-0.8582	10	0.72032	D	0.01	-5.8147	14.969	0.71217	0.0:0.0:0.0:1.0	.	701;741	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	A	741;701	ENSP00000275053:D741A;ENSP00000358254:D701A	ENSP00000275053:D741A	D	-	2	0	MMS22L	97741105	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.257000	0.58816	2.006000	0.58801	0.477000	0.44152	GAT		0.393	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		13	199	0	0	0	1	0	13	199				
SMC1A	8243	broad.mit.edu	37	X	53439881	53439881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53439881G>A	ENST00000322213.4	-	5	950	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	275					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						tgctgctcccgcatcattttg	0.507																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(823-825)Cgg>Tgg		structural maintenance of chromosomes 1A							156.0	129.0	139.0					X																	53439881		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439881G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.823C>T	X.37:g.53439881G>A	ENSP00000323421:p.Arg275Trp					SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	p.R275W	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			5	950	-			275					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.823C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726948	0.48833	.	.	ENSG00000072501	ENST00000322213	T	0.78924	-1.22	4.4	4.4	0.53042	RecF/RecN/SMC (1);	0.124433	0.50627	D	0.000101	D	0.88926	0.6570	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.979;1.0;0.984	D	0.90213	0.4266	10	0.87932	D	0	.	9.5439	0.39268	0.0:0.0:0.6544:0.3456	.	253;275;275	Q6MZR8;A8K7A6;Q14683	.;.;SMC1A_HUMAN	W	275	ENSP00000323421:R275W	ENSP00000323421:R275W	R	-	1	2	SMC1A	53456606	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.262000	0.43285	1.941000	0.56285	0.436000	0.28706	CGG		0.507	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		37	111	0	0	0	1	0	37	111				
FBN3	84467	broad.mit.edu	37	19	8203051	8203051	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8203051C>A	ENST00000600128.1	-	10	1589	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	FBN3_ENST00000601739.1_Missense_Mutation_p.S392I|FBN3_ENST00000270509.2_Missense_Mutation_p.S392I			Q75N90	FBN3_HUMAN	fibrillin 3	392						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCCAGGCTGGGGATCCC	0.612																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1174-1176)aGc>aTc		fibrillin 3							15.0	19.0	18.0					19																	8203051		2194	4289	6483	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203051C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1175G>T	19.37:g.8203051C>A	ENSP00000470498:p.Ser392Ile					FBN3_ENST00000270509.2_Missense_Mutation_p.S392I|FBN3_ENST00000601739.1_Missense_Mutation_p.S392I	p.S392I			Q75N90	FBN3_HUMAN			10	1589	-			392					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1175G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	9.180	1.023304	0.19433	.	.	ENSG00000142449	ENST00000270509	D	0.87334	-2.24	4.45	3.41	0.39046	.	0.731136	0.12732	U	0.443799	T	0.75228	0.3821	N	0.14661	0.345	0.20873	N	0.999833	B	0.26002	0.139	B	0.24541	0.054	T	0.61207	-0.7109	10	0.26408	T	0.33	.	9.4563	0.38756	0.0:0.898:0.0:0.102	.	392	Q75N90	FBN3_HUMAN	I	392	ENSP00000270509:S392I	ENSP00000270509:S392I	S	-	2	0	FBN3	8109051	0.966000	0.33281	0.952000	0.39060	0.717000	0.41224	0.760000	0.26475	0.864000	0.35578	-0.350000	0.07774	AGC		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	110	1	0	5.18039e-06	1	5.32547e-06	7	110				
OR2K2	26248	broad.mit.edu	37	9	114089992	114089992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114089992C>A	ENST00000374428.1	-	1	808	c.809G>T	c.(808-810)gGt>gTt	p.G270V	OR2K2_ENST00000302681.1_Missense_Mutation_p.G241V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAAATGGGCACCACAGGTAGA	0.408																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(808-810)gGt>gTt		olfactory receptor, family 2, subfamily K, member 2							121.0	118.0	119.0					9																	114089992		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114089992C>A	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.809G>T	9.37:g.114089992C>A	ENSP00000363550:p.Gly270Val					OR2K2_ENST00000302681.1_Missense_Mutation_p.G241V	p.G270V			Q8NGT1	OR2K2_HUMAN			1	808	-			270					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.809G>T		.	.	.	.	.	.	.	.	.	.	C	14.32	2.501482	0.44455	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.35421	1.31;1.31	4.55	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.442645	0.16571	U	0.208623	T	0.37758	0.1015	L	0.35414	1.06	0.49582	D	0.999805	D	0.55172	0.97	P	0.51615	0.675	T	0.20505	-1.0273	10	0.66056	D	0.02	.	11.2428	0.48979	0.0:0.6415:0.3585:0.0	.	270	Q8NGT1	OR2K2_HUMAN	V	241;270	ENSP00000305055:G241V;ENSP00000363550:G270V	ENSP00000305055:G241V	G	-	2	0	OR2K2	113129813	0.000000	0.05858	0.998000	0.56505	0.930000	0.56654	-0.218000	0.09240	1.237000	0.43756	0.591000	0.81541	GGT		0.408	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		59	311	1	0	5.08636e-23	1	5.77245e-23	59	311				
RYR1	6261	broad.mit.edu	37	19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	rs138647599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38996982G>A	ENST00000359596.3	+	55	8581	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000355481.4_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2861	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCAGCCCCCCGACCTTAGTGC	0.607																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(8581-8583)Gac>Aac		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	58.0	57.0	57.0		8581,8581	3.5	1.0	19	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	2861/5039,2861/5034	38996982	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38996982G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8581G>A	19.37:g.38996982G>A	ENSP00000352608:p.Asp2861Asn					RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N|RYR1_ENST00000359596.3_Missense_Mutation_p.D2861N	p.D2861N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		55	8712	+	all_cancers(60;7.91e-06)		2861			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.8581G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862678	0.51482	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94000	-3.33;-3.33;-3.33	3.47	3.47	0.39725	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000003	D	0.96059	0.8716	M	0.79475	2.455	0.49389	D	0.999782	D;B	0.67145	0.996;0.171	D;B	0.71870	0.975;0.009	D	0.96570	0.9422	10	0.87932	D	0	.	14.2529	0.66031	0.0:0.0:1.0:0.0	.	2861;2861	P21817-2;P21817	.;RYR1_HUMAN	N	2861	ENSP00000352608:D2861N;ENSP00000347667:D2861N;ENSP00000354254:D2861N	ENSP00000347667:D2861N	D	+	1	0	RYR1	43688822	1.000000	0.71417	0.985000	0.45067	0.455000	0.32408	7.250000	0.78287	1.952000	0.56665	0.305000	0.20034	GAC		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			62	323	0	0	0	1	0	62	323				
ERN2	10595	broad.mit.edu	37	16	23713497	23713497	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23713497G>T	ENST00000457008.2	-	11	1217	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	ERN2_ENST00000256797.4_Silent_p.T441T					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGGGCCTGGGTATTCTCTG	0.607																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1321-1323)acC>acA		endoplasmic reticulum to nucleus signaling 2							67.0	72.0	71.0					16																	23713497		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713497G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1179C>A	16.37:g.23713497G>T						ERN2_ENST00000457008.2_Silent_p.T393T	p.T441T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	11	1491	-			393						Silent	SNP	ENST00000457008.2	37	c.1323C>A																																																																																					0.607	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			95	453	1	0	1.63549e-45	1	2.00598e-45	95	453				
PHLDB2	90102	broad.mit.edu	37	3	111658331	111658331	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658331C>T	ENST00000431670.2	+	7	2551	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	PHLDB2_ENST00000412622.1_Silent_p.L671L|PHLDB2_ENST00000481953.1_Silent_p.L671L|PHLDB2_ENST00000393923.3_Silent_p.L698L|PHLDB2_ENST00000393925.3_Silent_p.L714L|PHLDB2_ENST00000495180.1_Silent_p.L300L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	714						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGATGCTGACCTGTTGGATGT	0.403																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2140-2142)Ctg>Ttg		pleckstrin homology-like domain, family B, member 2							117.0	109.0	112.0					3																	111658331		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111658331C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2140C>T	3.37:g.111658331C>T						PHLDB2_ENST00000393923.3_Silent_p.L698L|PHLDB2_ENST00000393925.3_Silent_p.L714L|PHLDB2_ENST00000481953.1_Silent_p.L671L|PHLDB2_ENST00000495180.1_Silent_p.L300L|PHLDB2_ENST00000412622.1_Silent_p.L671L	p.L714L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			7	2551	+			714					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.2140C>T	CCDS46886.1																																																																																				0.403	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		33	444	0	0	0	1	0	33	444				
ME1	4199	broad.mit.edu	37	6	83937191	83937191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937191C>T	ENST00000369705.3	-	11	1254	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	ME1_ENST00000541327.1_Missense_Mutation_p.A214T|ME1_ENST00000543031.1_Missense_Mutation_p.A305T	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	380					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CCAATTGCAGCAACTCCTAAT	0.368																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1138-1140)Gct>Act		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						101.0	97.0	98.0					6																	83937191		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83937191C>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1138G>A	6.37:g.83937191C>T	ENSP00000358719:p.Ala380Thr					ME1_ENST00000541327.1_Missense_Mutation_p.A214T|ME1_ENST00000543031.1_Missense_Mutation_p.A305T	p.A380T	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	11	1254	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	380					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.1138G>A	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107717	0.94292	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.29142	1.58;1.58;1.58	5.87	5.87	0.94306	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.55990	1.75	0.80722	D	1	D	0.54207	0.965	P	0.46629	0.522	T	0.05550	-1.0878	10	0.62326	D	0.03	-22.7069	20.1944	0.98239	0.0:1.0:0.0:0.0	.	380	P48163	MAOX_HUMAN	T	380;40;214;305	ENSP00000358719:A380T;ENSP00000439912:A214T;ENSP00000446114:A305T	ENSP00000358719:A380T	A	-	1	0	ME1	83993910	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.628000	0.83189	2.777000	0.95525	0.555000	0.69702	GCT		0.368	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			59	362	0	0	0	1	0	59	362				
FCGR1B	2210	broad.mit.edu	37	1	120930255	120930255	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120930255C>T	ENST00000369384.4	-	4	388	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'UTR	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	116	Ig-like C2-type 2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	GGTTCTCCTTCCATGAAGACT	0.463																																						ENST00000369384.4																			0				breast(1)|endometrium(1)|lung(2)	4						c.(346-348)Gaa>Aaa		Fc fragment of IgG, high affinity Ib, receptor (CD64)							163.0	160.0	161.0					1																	120930255		2203	4300	6503	SO:0001583	missense	2210				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity	g.chr1:120930255C>T		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.346G>A	1.37:g.120930255C>T	ENSP00000358391:p.Glu116Lys					FCGR1B_ENST00000472543.1_5'UTR|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|RP11-439A17.9_ENST00000457996.1_RNA	p.E116K	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	4	388	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	116			Ig-like C2-type 2.		Q7KZ13|Q92638	Missense_Mutation	SNP	ENST00000369384.4	37	c.346G>A	CCDS30821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.766223|1.766223	0.31228|0.31228	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369384;ENST00000369383|ENST00000369178	T;T|.	0.14766|.	2.48;2.48|.	2.16|2.16	2.16|2.16	0.27623|0.27623	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.52532|.	D|.	0.000080|.	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.86343|0.86343	2.81|2.81	0.28108|0.28108	N|N	0.931133|0.931133	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.97;0.999|.	T|T	0.40079|0.40079	-0.9582|-0.9582	10|5	0.87932|.	D|.	0|.	.|.	7.9331|7.9331	0.29914|0.29914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116;116;24;116|.	P12314-2;Q92637-2;Q92637-3;Q92637|.	.;.;.;FCGRB_HUMAN|.	K|E	116;24|100	ENSP00000358391:E116K;ENSP00000358390:E24K|.	ENSP00000358390:E24K|.	E|G	-|-	1|2	0|0	FCGR1B|FCGR1B	120731778|120731778	0.970000|0.970000	0.33590|0.33590	0.630000|0.630000	0.29268|0.29268	0.109000|0.109000	0.19521|0.19521	2.941000|2.941000	0.49011|0.49011	1.543000|1.543000	0.49345|0.49345	0.184000|0.184000	0.17185|0.17185	GAA|GGA		0.463	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			124	524	0	0	0	1	0	124	524				
SIN3A	25942	broad.mit.edu	37	15	75684652	75684652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684652G>A	ENST00000394947.3	-	15	3096	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGCACTTCCCGTTCCCATTCT	0.502																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2782-2784)Cgg>Tgg		SIN3 transcription regulator family member A							190.0	173.0	179.0					15																	75684652		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684652G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2782C>T	15.37:g.75684652G>A	ENSP00000378402:p.Arg928Trp					SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W	p.R928W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			15	3096	-			928						Missense_Mutation	SNP	ENST00000394947.3	37	c.2782C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703670	0.68501	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.50001	0.76;0.76;0.76	5.6	4.68	0.58851	.	0.048289	0.85682	D	0.000000	T	0.66157	0.2761	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69847	-0.5034	10	0.87932	D	0	-13.6199	12.4793	0.55833	0.0:0.0:0.5775:0.4225	.	928	Q96ST3	SIN3A_HUMAN	W	928	ENSP00000378402:R928W;ENSP00000378403:R928W;ENSP00000353622:R928W	ENSP00000353622:R928W	R	-	1	2	SIN3A	73471705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.062000	0.49971	1.362000	0.46000	0.655000	0.94253	CGG		0.502	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		149	680	0	0	0	1	0	149	680				
TUBB4A	10382	broad.mit.edu	37	19	6495205	6495205	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6495205G>A	ENST00000264071.2	-	4	1676	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.F435F|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	435					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CCTCCTCCTCGAACTCGCCCT	0.622																																						ENST00000264071.2																			0											c.(1303-1305)ttC>ttT		tubulin, beta 4A class IVa							72.0	66.0	68.0					19																	6495205		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495205G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1305C>T	19.37:g.6495205G>A						TUBB4A_ENST00000540257.1_Silent_p.F435F	p.F435F			P04350	TBB4_HUMAN			4	1676	-			435					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.1305C>T	CCDS12168.1																																																																																				0.622	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		100	426	0	0	0	1	0	100	426				
RAD51AP2	729475	broad.mit.edu	37	2	17697531	17697531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17697531C>T	ENST00000399080.2	-	1	2175	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	718										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCACATTCACAACTTGTTGA	0.318																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2152-2154)Gtg>Atg		RAD51 associated protein 2							80.0	75.0	77.0					2																	17697531		1823	4078	5901	SO:0001583	missense	729475							g.chr2:17697531C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2152G>A	2.37:g.17697531C>T	ENSP00000382030:p.Val718Met						p.V718M	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	2175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		718						Missense_Mutation	SNP	ENST00000399080.2	37	c.2152G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	6.638	0.486189	0.12641	.	.	ENSG00000214842	ENST00000399080	T	0.23552	1.9	4.42	-3.24	0.05094	.	.	.	.	.	T	0.08088	0.0202	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	9	0.26408	T	0.33	0.3519	5.3879	0.16227	0.0:0.2282:0.2636:0.5082	.	718	Q09MP3	R51A2_HUMAN	M	718	ENSP00000382030:V718M	ENSP00000382030:V718M	V	-	1	0	RAD51AP2	17561012	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.789000	0.04609	-0.656000	0.05380	-0.383000	0.06682	GTG		0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		97	317	0	0	0	1	0	97	317				
DAO	1610	broad.mit.edu	37	12	109293208	109293208	+	Missense_Mutation	SNP	G	G	A	rs372560295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109293208G>A	ENST00000228476.3	+	10	1073	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	DAO_ENST00000551281.1_Missense_Mutation_p.R224Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	290					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CCCCAGATTCGGCTAGAAAGA	0.483																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(868-870)cGg>cAg		D-amino-acid oxidase		G	GLN/ARG	0,4406		0,0,2203	46.0	39.0	41.0		869	5.1	0.9	12		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	DAO	NM_001917.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	290/348	109293208	1,13005	2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109293208G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.869G>A	12.37:g.109293208G>A	ENSP00000228476:p.Arg290Gln					DAO_ENST00000551281.1_Missense_Mutation_p.R224Q	p.R290Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			10	1073	+			290					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.869G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.300068	0.81136	0.0	1.16E-4	ENSG00000110887	ENST00000551281;ENST00000228476	T;T	0.81415	-1.49;-1.49	5.14	5.14	0.70334	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.95271	0.8377	10	0.87932	D	0	-16.9776	16.0921	0.81098	0.0:0.0:1.0:0.0	.	290;273	P14920;Q7Z312	OXDA_HUMAN;.	Q	224;290	ENSP00000446853:R224Q;ENSP00000228476:R290Q	ENSP00000228476:R290Q	R	+	2	0	DAO	107817337	1.000000	0.71417	0.944000	0.38274	0.276000	0.26787	7.514000	0.81750	2.409000	0.81822	0.542000	0.68232	CGG		0.483	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			17	107	0	0	0	1	0	17	107				
RIMS1	22999	broad.mit.edu	37	6	72960117	72960117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72960117C>T	ENST00000521978.1	+	13	2326	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R776C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	776	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGTAGATGGACGTCCTCGAAA	0.358																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(2326-2328)Cgt>Tgt		regulating synaptic membrane exocytosis 1							79.0	73.0	75.0					6																	72960117		1842	4088	5930	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72960117C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2326C>T	6.37:g.72960117C>T	ENSP00000428417:p.Arg776Cys					RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R776C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C	p.R776C			Q86UR5	RIMS1_HUMAN			13	2326	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	776			C2 1.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2326C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001142|4.001142	0.74818|0.74818	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.77229|.	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;1.53|.	5.28|5.28	5.28|5.28	0.74379|0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.61763|0.61763	0.2373|0.2373	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.99;0.994;0.999;0.999;1.0;0.999;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	-15.9688|-15.9688	14.1452|14.1452	0.65347|0.65347	0.15:0.8499:0.0:0.0|0.15:0.8499:0.0:0.0	.|.	235;250;776;235;250;776;776|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	776;776;776;776;776;776;776;776;776;776;776;776;250;250;169;169;235;1|349	ENSP00000430101:R776C;ENSP00000275037:R776C;ENSP00000264839:R776C;ENSP00000429959:R776C;ENSP00000430408:R776C;ENSP00000430502:R776C;ENSP00000430932:R776C;ENSP00000428417:R776C;ENSP00000385649:R250C;ENSP00000428328:R250C;ENSP00000411235:R169C;ENSP00000389503:R169C;ENSP00000428367:R235C;ENSP00000359448:R1C|.	ENSP00000264839:R776C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73016838|73016838	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	2.896000|2.896000	0.48656|0.48656	2.611000|2.611000	0.88343|0.88343	0.585000|0.585000	0.79938|0.79938	CGT|ACG		0.358	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			15	95	0	0	0	1	0	15	95				
EPC2	26122	broad.mit.edu	37	2	149519453	149519453	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149519453A>G	ENST00000258484.6	+	5	803	c.769A>G	c.(769-771)Aca>Gca	p.T257A		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	257					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AAGAGAGAAAACAAAACGAGA	0.343																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(769-771)Aca>Gca		enhancer of polycomb homolog 2 (Drosophila)							79.0	73.0	75.0					2																	149519453		1825	4078	5903	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149519453A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.769A>G	2.37:g.149519453A>G	ENSP00000258484:p.Thr257Ala						p.T257A	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	5	803	+			257					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.769A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328373	0.60743	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.6	5.6	0.85130	.	0.115719	0.56097	D	0.000030	T	0.45438	0.1342	N	0.26042	0.785	0.80722	D	1	B	0.26744	0.158	B	0.22880	0.042	T	0.34775	-0.9815	9	0.30854	T	0.27	-4.0144	15.7881	0.78326	1.0:0.0:0.0:0.0	.	257	Q52LR7	EPC2_HUMAN	A	257	.	ENSP00000258484:T257A	T	+	1	0	EPC2	149235923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.309000	0.59135	2.137000	0.66172	0.482000	0.46254	ACA		0.343	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		16	62	0	0	0	1	0	16	62				
RARRES3	5920	broad.mit.edu	37	11	63307000	63307000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307000C>T	ENST00000255688.3	+	2	70	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	RARRES3_ENST00000439013.2_Missense_Mutation_p.P8S|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.P8S	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	8					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ACACCAAGAGCCCAAACCTGG	0.552																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(22-24)Ccc>Tcc		retinoic acid receptor responder (tazarotene induced) 3							109.0	115.0	113.0					11																	63307000		2196	4298	6494	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63307000C>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.22C>T	11.37:g.63307000C>T	ENSP00000255688:p.Pro8Ser					RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000255688.3_Missense_Mutation_p.P8S|RARRES3_ENST00000354445.2_Missense_Mutation_p.P8S	p.P8S			Q9UL19	TIG3_HUMAN			2	75	+			8					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.22C>T	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.674977	0.47781	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21932	1.98;1.98;1.98	4.35	3.43	0.39272	.	0.159898	0.40302	N	0.001137	T	0.49321	0.1550	M	0.88704	2.975	0.09310	N	1	D	0.54772	0.968	D	0.68943	0.961	T	0.45833	-0.9234	10	0.87932	D	0	.	11.7062	0.51599	0.178:0.822:0.0:0.0	.	8	Q9UL19	TIG3_HUMAN	S	8	ENSP00000402943:P8S;ENSP00000255688:P8S;ENSP00000346431:P8S	ENSP00000255688:P8S	P	+	1	0	RARRES3	63063576	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	1.464000	0.35288	1.181000	0.42912	0.563000	0.77884	CCC		0.552	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			10	373	0	0	0	1	0	10	373				
PLIN3	10226	broad.mit.edu	37	19	4847894	4847894	+	Missense_Mutation	SNP	C	C	T	rs146856306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847894C>T	ENST00000221957.4	-	6	819	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	215					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	AGGGATGTGGCGATGCGGGCT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17690	0.0		0.0	False		,,,				2504	0.001					ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(643-645)Gcc>Acc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	40.0	32.0	34.0		643,607,643	2.1	0.8	19	dbSNP_134	34	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	58,58,58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	215/434,203/423,215/435	4847894	3,13003	2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4847894C>T	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.643G>A	19.37:g.4847894C>T	ENSP00000221957:p.Ala215Thr					PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T|PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T	p.A215T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			6	819	-			215					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.643G>A	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022869	0.54683	0.0	3.49E-4	ENSG00000105355	ENST00000221957	T	0.28255	1.62	4.41	2.14	0.27477	.	0.185373	0.34291	U	0.004087	T	0.44540	0.1298	M	0.84082	2.675	0.51233	D	0.999911	D;P;D	0.60575	0.985;0.951;0.988	P;B;P	0.52627	0.579;0.32;0.704	T	0.49916	-0.8888	10	0.87932	D	0	-28.6311	8.6119	0.33808	0.1512:0.7668:0.0:0.082	.	215;32;215	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	T	215	ENSP00000221957:A215T	ENSP00000221957:A215T	A	-	1	0	PLIN3	4798894	0.998000	0.40836	0.766000	0.31476	0.083000	0.17756	4.092000	0.57707	0.861000	0.35504	0.511000	0.50034	GCC		0.597	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		21	107	0	0	0	1	0	21	107				
DDHD1	80821	broad.mit.edu	37	14	53558604	53558604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53558604G>A	ENST00000323669.5	-	4	1187	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	DDHD1_ENST00000395606.1_Silent_p.A403A|DDHD1_ENST00000357758.3_Silent_p.A396A	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	396					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAATGTGGCTTCTTCTA	0.348																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1186-1188)gcC>gcT		DDHD domain containing 1							151.0	143.0	146.0					14																	53558604		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53558604G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1188C>T	14.37:g.53558604G>A						DDHD1_ENST00000395606.1_Silent_p.A403A|DDHD1_ENST00000323669.5_Silent_p.A396A	p.A396A	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			4	1371	-	Breast(41;0.037)		396					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	c.1188C>T	CCDS53895.1																																																																																				0.348	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			83	330	0	0	0	1	0	83	330				
SKP1	6500	broad.mit.edu	37	5	133496781	133496781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133496781G>A	ENST00000353411.6	-	4	395	c.212C>T	c.(211-213)cCt>cTt	p.P71L	SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L|SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000517625.1_Missense_Mutation_p.P71L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCAGGAGGAGGAGGGTC	0.443																																						ENST00000353411.6																			0				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(211-213)cCt>cTt		S-phase kinase-associated protein 1							98.0	85.0	90.0					5																	133496781		2203	4300	6503	SO:0001583	missense	6500				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:133496781G>A	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"""S-phase kinase-associated protein 1A (p19A)"""	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.212C>T	5.37:g.133496781G>A	ENSP00000231487:p.Pro71Leu					SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000517625.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L	p.P71L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	395	-			71					D3DQ97|D3DQ98|P34991|Q8TAY2	Missense_Mutation	SNP	ENST00000353411.6	37	c.212C>T	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297649	0.60086	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321;ENST00000520417	T;T;T;T;T;T;T;T	0.47177	0.88;0.87;0.87;0.88;0.88;0.87;0.88;0.85	4.97	4.97	0.65823	BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.50735	0.1633	M	0.67569	2.06	0.80722	D	1	B;B;B	0.22414	0.009;0.069;0.008	B;B;B	0.22386	0.013;0.039;0.008	T	0.52109	-0.8619	10	0.52906	T	0.07	-1.6096	18.6017	0.91249	0.0:0.0:1.0:0.0	.	71;71;71	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	L	71	ENSP00000231487:P71L;ENSP00000429472:P71L;ENSP00000431067:P71L;ENSP00000429961:P71L;ENSP00000429686:P71L;ENSP00000331708:P71L;ENSP00000429415:P71L;ENSP00000429996:P71L	ENSP00000331708:P71L	P	-	2	0	SKP1	133524680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.130000	0.94437	2.444000	0.82710	0.655000	0.94253	CCT		0.443	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	NM_170679		34	144	0	0	0	1	0	34	144				
TRAPPC8	22878	broad.mit.edu	37	18	29429679	29429679	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29429679A>G	ENST00000283351.4	-	25	3920	c.3585T>C	c.(3583-3585)tgT>tgC	p.C1195C	TRAPPC8_ENST00000582539.1_Silent_p.C1141C	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1195					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAAGTCTGCACATGGGCTTG	0.323																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3583-3585)tgT>tgC		trafficking protein particle complex 8							61.0	60.0	60.0					18																	29429679		2203	4299	6502	SO:0001819	synonymous_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29429679A>G	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3585T>C	18.37:g.29429679A>G						TRAPPC8_ENST00000582539.1_Silent_p.C1141C	p.C1195C	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			25	3920	-			1195					A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	c.3585T>C	CCDS11901.1																																																																																				0.323	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		45	217	0	0	0	1	0	45	217				
CD1B	910	broad.mit.edu	37	1	158299849	158299849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299849C>A	ENST00000368168.3	-	3	507	c.400G>T	c.(400-402)Gga>Tga	p.G134*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	134					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CCTAGAGCTCCCCTCAGGAAG	0.493																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(400-402)Gga>Tga		CD1b molecule							172.0	175.0	174.0					1																	158299849		2203	4300	6503	SO:0001587	stop_gained	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299849C>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.400G>T	1.37:g.158299849C>A	ENSP00000357150:p.Gly134*						p.G134*	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			3	507	-	all_hematologic(112;0.0378)		134					Q5TDK9|Q5TDL0|Q9UMM2	Nonsense_Mutation	SNP	ENST00000368168.3	37	c.400G>T	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696383|3.696383	0.68386|0.68386	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|.	.|.	.|.	4.16|4.16	3.25|3.25	0.37280|0.37280	.|.	0.499782|0.499782	0.17023|0.17023	N|N	0.190023|0.190023	T|.	0.24812|.	0.0602|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07986|.	-1.0744|.	4|.	.|0.26408	.|T	.|0.33	0.004|0.004	7.9556|7.9556	0.30040|0.30040	0.0:0.8856:0.0:0.1144|0.0:0.8856:0.0:0.1144	.|.	.|.	.|.	.|.	V|X	101|134	.|.	.|ENSP00000357150:G134X	G|G	-|-	2|1	0|0	CD1B|CD1B	156566473|156566473	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.064000|0.064000	0.16182|0.16182	0.981000|0.981000	0.29526|0.29526	1.095000|1.095000	0.41419|0.41419	-0.136000|-0.136000	0.14681|0.14681	GGG|GGA		0.493	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		305	857	1	0	4.54041e-115	1	5.84573e-115	305	857				
ASTN2	23245	broad.mit.edu	37	9	119737600	119737600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119737600G>A	ENST00000313400.4	-	10	1876	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	ASTN2_ENST00000361209.2_Silent_p.G541G|ASTN2_ENST00000373996.3_Silent_p.G588G|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	592					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCCAGAGGCCTTGGCCCA	0.557																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1774-1776)ggC>ggT		astrotactin 2							67.0	64.0	65.0					9																	119737600		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119737600G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1776C>T	9.37:g.119737600G>A						ASTN2_ENST00000373996.3_Silent_p.G588G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.G541G	p.G592G			O75129	ASTN2_HUMAN			10	1876	-			592					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1776C>T																																																																																					0.557	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		53	230	0	0	0	1	0	53	230				
PBRM1	55193	broad.mit.edu	37	3	52637690	52637690	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52637690G>A	ENST00000296302.7	-	17	2627	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	PBRM1_ENST00000356770.4_Missense_Mutation_p.R844C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C			Q86U86	PB1_HUMAN	polybromo 1	876					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTTCATCACGAATTTTAATA	0.353			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2530-2532)Cgt>Tgt		polybromo 1							66.0	63.0	64.0					3																	52637690		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637690G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2626C>T	3.37:g.52637690G>A	ENSP00000296302:p.Arg876Cys					PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R876C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C	p.R844C			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2532	-			876			Bromo 6.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2530C>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.149176	0.78001	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.60920	0.16;0.2;0.15;0.16;0.17;0.17;0.63;0.17;0.21;0.28	5.72	5.72	0.89469	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-20.1551	20.2504	0.98404	0.0:0.0:1.0:0.0	.	876;876;876;876;891;891;876;844;876	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	844;876;876;876;876;876;891;891;876;835	ENSP00000349213:R844C;ENSP00000378307:R876C;ENSP00000296302:R876C;ENSP00000338302:R876C;ENSP00000386593:R876C;ENSP00000386529:R876C;ENSP00000386643:R891C;ENSP00000386601:R891C;ENSP00000387775:R876C;ENSP00000397662:R835C	ENSP00000296302:R876C	R	-	1	0	PBRM1	52612730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.236000	0.51336	2.850000	0.98022	0.650000	0.86243	CGT		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		30	159	0	0	0	1	0	30	159				
TRIO	7204	broad.mit.edu	37	5	14406776	14406776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14406776G>A	ENST00000344204.4	+	33	4978	c.4954G>A	c.(4954-4956)Gat>Aat	p.D1652N	TRIO_ENST00000537187.1_Missense_Mutation_p.D1652N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1652					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGACAGCGATAAGGTGAG	0.572																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4954-4956)Gat>Aat		trio Rho guanine nucleotide exchange factor							86.0	74.0	78.0					5																	14406776		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14406776G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4954G>A	5.37:g.14406776G>A	ENSP00000339299:p.Asp1652Asn					TRIO_ENST00000537187.1_Missense_Mutation_p.D1652N	p.D1652N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			33	4978	+	Lung NSC(4;0.000742)		1652					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4954G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320191	0.81469	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.13657	2.57;2.57	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	M	0.68952	2.095	0.80722	D	1	P;D	0.76494	0.625;0.999	B;D	0.75020	0.194;0.985	T	0.06516	-1.0822	10	0.59425	D	0.04	.	19.3513	0.94387	0.0:0.0:1.0:0.0	.	1652;1652	O75962-5;O75962	.;TRIO_HUMAN	N	1652;1652;1339	ENSP00000339299:D1652N;ENSP00000446348:D1652N	ENSP00000339299:D1652N	D	+	1	0	TRIO	14459776	1.000000	0.71417	0.403000	0.26384	0.736000	0.42039	9.826000	0.99387	2.571000	0.86741	0.650000	0.86243	GAT		0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		90	290	0	0	0	1	0	90	290				
PNLIPRP2	5408	broad.mit.edu	37	10	118394364	118394364	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118394364T>G	ENST00000298771.7	+	0	855				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ATTGGTGGCTTTGTGTCTTGC	0.468																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							96.0	95.0	95.0					10																	118394364		1931	4173	6104			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118394364T>G	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118394364T>G						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	856	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37			.	.	.	.	.	.	.	.	.	.	T	8.513	0.866972	0.17250	.	.	ENSG00000165862	ENST00000537242	D	0.91740	-2.9	5.29	2.92	0.33932	Lipase, N-terminal (1);	0.224285	0.30374	U	0.009767	D	0.94420	0.8205	.	.	.	0.24291	N	0.995166	D	0.89917	1.0	D	0.77004	0.989	D	0.87305	0.2308	9	0.72032	D	0.01	.	6.9395	0.24484	0.1331:0.0745:0.0:0.7925	.	277	P54317	LIPR2_HUMAN	C	277	ENSP00000446346:F277C	ENSP00000446346:F277C	F	+	2	0	PNLIPRP2	118384354	0.931000	0.31567	0.208000	0.23602	0.002000	0.02628	1.212000	0.32394	0.400000	0.25396	-0.561000	0.04177	TTT		0.468	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		9	197	0	0	0	1	0	9	197				
PAX4	5078	broad.mit.edu	37	7	127255125	127255125	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127255125T>C	ENST00000341640.2	-	2	350	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V|PAX4_ENST00000338516.3_Missense_Mutation_p.I57V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	57	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCCCTAGGATCTTGCTCACA	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(145-147)Atc>Gtc		paired box 4							76.0	72.0	74.0					7																	127255125		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255125T>C		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.145A>G	7.37:g.127255125T>C	ENSP00000339906:p.Ile49Val					PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V|PAX4_ENST00000338516.3_Missense_Mutation_p.I57V	p.I49V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			2	350	-			57			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.145A>G	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700177	0.88924	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99519	-5.86;-5.86;-6.07	5.73	5.73	0.89815	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	M	0.82323	2.585	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;0.987;0.988;0.999	D;D;D;D	0.91635	0.999;0.983;0.99;0.995	D	0.98442	1.0587	10	0.87932	D	0	.	13.9767	0.64277	0.0:0.0:0.0:1.0	.	49;47;57;47	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	V	49;57;57;47	ENSP00000339906:I49V;ENSP00000344297:I57V;ENSP00000451923:I47V	ENSP00000344297:I57V	I	-	1	0	PAX4	127042361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.902000	0.87389	2.175000	0.68902	0.533000	0.62120	ATC		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			81	369	0	0	0	1	0	81	369				
CEACAM16	388551	broad.mit.edu	37	19	45213775	45213775	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45213775G>A	ENST00000405314.2	+	6	1372	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Silent_p.G425G			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	425					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCTGGGGTAACAGCGTG	0.652																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1273-1275)ggG>ggA		carcinoembryonic antigen-related cell adhesion molecule 16							97.0	106.0	103.0					19																	45213775		2010	4161	6171	SO:0001819	synonymous_variant	388551							g.chr19:45213775G>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1275G>A	19.37:g.45213775G>A						CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.G425G	p.G425G	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			7	1490	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	425					A7LI12	Silent	SNP	ENST00000405314.2	37	c.1275G>A	CCDS54278.1																																																																																				0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		113	500	0	0	0	1	0	113	500				
COG2	22796	broad.mit.edu	37	1	230820883	230820883	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230820883G>A	ENST00000366669.4	+	12	1396	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	COG2_ENST00000546013.1_Silent_p.R116R|COG2_ENST00000534989.1_Silent_p.R368R|COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000366668.3_Silent_p.R427R	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	427					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCAGCCTTAGGAGGTGTTGGT	0.438																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1102-1104)agG>agA		component of oligomeric golgi complex 2							265.0	234.0	244.0					1																	230820883		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230820883G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1281G>A	1.37:g.230820883G>A						COG2_ENST00000366669.4_Silent_p.R427R|COG2_ENST00000366668.3_Silent_p.R427R|COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000546013.1_Silent_p.R116R	p.R368R			Q14746	COG2_HUMAN			12	1439	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	427					Q86U99	Silent	SNP	ENST00000366669.4	37	c.1104G>A	CCDS1584.1																																																																																				0.438	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		122	625	0	0	0	1	0	122	625				
RIN3	79890	broad.mit.edu	37	14	93119069	93119069	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93119069C>A	ENST00000216487.7	+	6	1834	c.1675C>A	c.(1675-1677)Ctg>Atg	p.L559M	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	559					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGAGGAGGAGCTGGAGCAGTT	0.612																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1675-1677)Ctg>Atg		Ras and Rab interactor 3							59.0	52.0	55.0					14																	93119069		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93119069C>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1675C>A	14.37:g.93119069C>A	ENSP00000216487:p.Leu559Met					RIN3_ENST00000418924.2_3'UTR	p.L559M	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1834	+		all_cancers(154;0.0701)	559					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1675C>A	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.48|12.48	1.949714|1.949714	0.34377|0.34377	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	.|T	.|0.06371	.|3.31	4.58|4.58	3.62|3.62	0.41486|0.41486	.|.	.|0.882755	.|0.09617	.|N	.|0.778156	T|T	0.18635|0.18635	0.0447|0.0447	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.71674	.|0.998;0.971;0.94;0.997	.|D;P;P;P	.|0.67548	.|0.952;0.751;0.641;0.85	T|T	0.06570|0.06570	-1.0819|-1.0819	5|10	.|0.19147	.|T	.|0.46	-4.07|-4.07	14.0183|14.0183	0.64539|0.64539	0.0:0.848:0.152:0.0|0.0:0.848:0.152:0.0	.|.	.|559;605;484;559	.|Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.|.;.;.;RIN3_HUMAN	D|M	75|559;483	.|ENSP00000216487:L559M	.|ENSP00000216487:L559M	A|L	+|+	2|1	0|2	RIN3|RIN3	92188822|92188822	0.001000|0.001000	0.12720|0.12720	0.994000|0.994000	0.49952|0.49952	0.627000|0.627000	0.37826|0.37826	0.056000|0.056000	0.14256|0.14256	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.612	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			31	295	1	0	1.39806e-14	1	1.52044e-14	31	295				
DNMT3A	1788	broad.mit.edu	37	2	25462038	25462038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25462038C>A	ENST00000264709.3	-	20	2706	c.2369G>T	c.(2368-2370)aGg>aTg	p.R790M	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	790	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGCGGGCCCTGTGTGCAGC	0.562			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2368-2370)aGg>aTg		DNA (cytosine-5-)-methyltransferase 3 alpha							69.0	62.0	64.0					2																	25462038		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25462038C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2369G>T	2.37:g.25462038C>A	ENSP00000264709:p.Arg790Met					DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M	p.R790M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			20	2706	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		790					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2369G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187538	0.94923	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96	5.64	5.64	0.86602	.	0.084554	0.85682	D	0.000000	D	0.99846	0.9929	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.87932	D	0	-14.0906	17.206	0.86918	0.0:1.0:0.0:0.0	.	790;601	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	M	601;790;790;567	ENSP00000370122:R601M;ENSP00000324375:R790M;ENSP00000264709:R790M;ENSP00000384237:R567M	ENSP00000264709:R790M	R	-	2	0	DNMT3A	25315542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.681000	0.91329	0.561000	0.74099	AGG		0.562	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		34	138	1	0	3.76114e-14	1	4.07806e-14	34	138				
ARL4A	10124	broad.mit.edu	37	7	12728429	12728429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12728429G>A	ENST00000396663.1	+	2	1032	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	184					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAAACTACATGATATGATCAT	0.393																																						ENST00000396663.1																			0				NS(2)|lung(3)|ovary(1)	6						c.(550-552)Gat>Aat		ADP-ribosylation factor-like 4A							49.0	50.0	50.0					7																	12728429		2199	4287	6486	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728429G>A	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.550G>A	7.37:g.12728429G>A	ENSP00000379898:p.Asp184Asn					ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N	p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	1032	+			184					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.550G>A	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037124	0.35893	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.58	3.69	0.42338	.	0.430161	0.24601	N	0.037122	T	0.70193	0.3196	N	0.17379	0.485	0.37735	D	0.92541	P	0.40731	0.728	B	0.43701	0.428	T	0.69558	-0.5113	10	0.02654	T	1	.	12.8581	0.57897	0.0794:0.0:0.9206:0.0	.	184	P40617	ARL4A_HUMAN	N	184	ENSP00000379897:D184N;ENSP00000349250:D184N;ENSP00000379899:D184N;ENSP00000379898:D184N;ENSP00000385236:D184N	ENSP00000349250:D184N	D	+	1	0	ARL4A	12694954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.434000	0.66526	1.273000	0.44346	0.585000	0.79938	GAT		0.393	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		69	322	0	0	0	1	0	69	322				
LRBA	987	broad.mit.edu	37	4	151186882	151186882	+	Missense_Mutation	SNP	G	G	A	rs145709687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151186882G>A	ENST00000357115.3	-	58	8827	c.8584C>T	c.(8584-8586)Cgc>Tgc	p.R2862C	LRBA_ENST00000510413.1_Missense_Mutation_p.R2850C|LRBA_ENST00000535741.1_Missense_Mutation_p.R2851C|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2862						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATCAGTAGCGGGTTTGGTAT	0.448																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8551-8553)Cgc>Tgc		LPS-responsive vesicle trafficking, beach and anchor containing		G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	127.0	118.0	121.0		8584,8584	5.0	1.0	4	dbSNP_134	121	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	LRBA	NM_001199282.2,NM_006726.4	180,180	0,16,6487	AA,AG,GG		0.1512,0.0681,0.123	probably-damaging,probably-damaging	2862/2864,2862/2864	151186882	16,12990	2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151186882G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8584C>T	4.37:g.151186882G>A	ENSP00000349629:p.Arg2862Cys					LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.R2850C|LRBA_ENST00000357115.3_Missense_Mutation_p.R2862C	p.R2851C			P50851	LRBA_HUMAN			57	9024	-	all_hematologic(180;0.151)		2862					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.8551C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101756	0.76983	6.81E-4	0.001512	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	T;T;T	0.59224	0.28;0.43;0.28	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.977;0.973	T	0.77115	-0.2707	10	0.87932	D	0	.	12.301	0.54874	0.0:0.0:0.6759:0.3241	.	2862;2851;2850;757	P50851;F5H1X8;P50851-2;Q68D03	LRBA_HUMAN;.;.;.	C	2851;2850;2862	ENSP00000446299:R2851C;ENSP00000421552:R2850C;ENSP00000349629:R2862C	ENSP00000349629:R2862C	R	-	1	0	LRBA	151406332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.405000	0.44548	2.782000	0.95742	0.655000	0.94253	CGC		0.448	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			21	200	0	0	0	1	0	21	200				
WDR49	151790	broad.mit.edu	37	3	167293928	167293928	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167293928G>T	ENST00000308378.3	-	4	569	c.264C>A	c.(262-264)ctC>ctA	p.L88L	WDR49_ENST00000479765.1_Silent_p.L429L|WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000476376.1_5'Flank	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	88										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATATCCCAGAGTCTCAAAA	0.388																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(262-264)ctC>ctA		WD repeat domain 49							61.0	58.0	59.0					3																	167293928		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167293928G>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.264C>A	3.37:g.167293928G>T						WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000479765.1_Silent_p.L429L	p.L88L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			4	569	-			88					Q8N297	Silent	SNP	ENST00000308378.3	37	c.264C>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	6.982	0.551242	0.13374	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.76	4.89	0.63831	.	.	.	.	.	T	0.64316	0.2587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63120	-0.6708	4	.	.	.	.	12.858	0.57897	0.0757:0.0:0.9243:0.0	.	.	.	.	Y	153	.	.	S	-	2	0	WDR49	168776622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.848000	0.39309	1.472000	0.48140	0.650000	0.86243	TCT		0.388	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		39	165	1	0	3.33393e-15	1	3.63836e-15	39	165				
PMPCA	23203	broad.mit.edu	37	9	139309012	139309012	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139309012A>G	ENST00000371717.3	+	5	454	c.445A>G	c.(445-447)Acc>Gcc	p.T149A	PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	149					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CAGAGACACCACCATGTATGC	0.562																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(445-447)Acc>Gcc		peptidase (mitochondrial processing) alpha							160.0	146.0	151.0					9																	139309012		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139309012A>G	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.445A>G	9.37:g.139309012A>G	ENSP00000360782:p.Thr149Ala					PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	p.T149A	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	5	454	+		Myeloproliferative disorder(178;0.0821)	149					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.445A>G	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.309660	0.60414	.	.	ENSG00000165688	ENST00000371717	T	0.24908	1.83	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.050174	0.85682	D	0.000000	T	0.34832	0.0911	M	0.77486	2.375	0.80722	D	1	B;B;B	0.26318	0.146;0.057;0.057	B;B;B	0.29663	0.105;0.042;0.042	T	0.15896	-1.0421	10	0.51188	T	0.08	.	14.8413	0.70226	1.0:0.0:0.0:0.0	.	149;149;149	B4DRK5;Q5SXM9;Q10713	.;.;MPPA_HUMAN	A	149	ENSP00000360782:T149A	ENSP00000360782:T149A	T	+	1	0	PMPCA	138428833	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.922000	0.92789	2.084000	0.62774	0.528000	0.53228	ACC		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		93	401	0	0	0	1	0	93	401				
MRPL23	6150	broad.mit.edu	37	11	1974067	1974067	+	Missense_Mutation	SNP	G	G	T	rs376634074		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1974067G>T	ENST00000397298.3	+	4	364	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MRPL23_ENST00000381514.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N|MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_Missense_Mutation_p.K93N	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	93					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGGACTACAAGGTCGCCTACG	0.542											OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381514.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(277-279)aaG>aaT		mitochondrial ribosomal protein L23		G	ASN/LYS	1,4403	2.1+/-5.4	0,1,2201	29.0	27.0	27.0		279	2.2	1.0	11		27	0,8598		0,0,4299	no	missense	MRPL23	NM_021134.3	94	0,1,6500	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	93/154	1974067	1,13001	2202	4299	6501	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1974067G>T	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.279G>T	11.37:g.1974067G>T	ENSP00000380466:p.Lys93Asn		OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	600	MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397298.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N	p.K93N			Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	4	301	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.279G>T	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980164	0.53827	2.27E-4	0.0	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	3.18	2.24	0.28232	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	D	0.84047	0.5386	H	0.95151	3.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83812	0.0242	10	0.87932	D	0	.	7.6413	0.28294	0.2208:0.0:0.7792:0.0	.	93	Q16540	RM23_HUMAN	N	93	ENSP00000380466:K93N;ENSP00000370930:K93N;ENSP00000380465:K93N;ENSP00000370925:K93N;ENSP00000380462:K93N	ENSP00000370925:K93N	K	+	3	2	MRPL23	1930643	1.000000	0.71417	0.992000	0.48379	0.828000	0.46876	1.738000	0.38207	0.654000	0.30846	0.313000	0.20887	AAG		0.542	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		8	129	1	0	0.307466	1	0.307576	8	129				
FZD8	8325	broad.mit.edu	37	10	35929686	35929686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929686G>A	ENST00000374694.1	-	1	676	c.672C>T	c.(670-672)ggC>ggT	p.G224G	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	224					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGGAGCCGCGCCGCCGCCAG	0.806																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(670-672)ggC>ggT		frizzled family receptor 8							5.0	6.0	5.0					10																	35929686		1617	3437	5054	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929686G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.672C>T	10.37:g.35929686G>A							p.G224G	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	676	-			224						Silent	SNP	ENST00000374694.1	37	c.672C>T	CCDS7192.1																																																																																				0.806	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		11	85	0	0	0	1	0	11	85				
KLHL14	57565	broad.mit.edu	37	18	30350182	30350182	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350182G>A	ENST00000359358.4	-	2	811	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	KLHL14_ENST00000358095.4_Silent_p.L125L|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	125	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGCAGCACCAGGTTGTTGATG	0.682																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(373-375)Ctg>Ttg		kelch-like family member 14							77.0	84.0	81.0					18																	30350182		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350182G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.373C>T	18.37:g.30350182G>A						AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.L125L	p.L125L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	811	-			125			BTB.		A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.373C>T	CCDS32813.1																																																																																				0.682	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			134	643	0	0	0	1	0	134	643				
TTN	7273	broad.mit.edu	37	2	179640548	179640548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179640548C>T	ENST00000591111.1	-	28	6267	c.6043G>A	c.(6043-6045)Gct>Act	p.A2015T	TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2015T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2015T			Q8WZ42	TITIN_HUMAN	titin	12808					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)			AGCTCCACAGCGGTAATGGCT	0.453																																						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.(6043-6045)Gct>Act		titin							129.0	135.0	133.0					2																	179640548		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640548C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6043G>A	2.37:g.179640548C>T	ENSP00000465570:p.Ala2015Thr					TTN_ENST00000360870.5_Missense_Mutation_p.A2015T|TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN_ENST00000591111.1_Missense_Mutation_p.A2015T	p.A2015T	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)		28	6267	-			1777					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.6043G>A		.	.	.	.	.	.	.	.	.	.	C	12.34	1.907980	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.15;0.13;0.12;0.29	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.71676	0.3368	L	0.32530	0.975	0.33807	D	0.627368	D;D;D;D;D	0.89917	0.994;0.994;0.994;0.994;1.0	P;P;P;P;D	0.71414	0.603;0.603;0.603;0.603;0.973	T	0.79699	-0.1694	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1969;1969;1969;2015;2015	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2015;1969;1969;1969;1969;2015	ENSP00000343764:A2015T;ENSP00000434586:A1969T;ENSP00000340554:A1969T;ENSP00000352154:A1969T;ENSP00000354117:A2015T	ENSP00000340554:A1969T	A	-	1	0	TTN	179348793	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	5.837000	0.69381	2.387000	0.81309	0.609000	0.83330	GCT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		151	772	0	0	0	1	0	151	772				
CROT	54677	broad.mit.edu	37	7	87011306	87011306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87011306G>A	ENST00000331536.3	+	11	1244	c.1059G>A	c.(1057-1059)tgG>tgA	p.W353*	CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*|CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	353					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGGAAGATGGAAGGTATGTT	0.313																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1057-1059)tgG>tgA		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						94.0	91.0	92.0					7																	87011306		2203	4297	6500	SO:0001587	stop_gained	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87011306G>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1059G>A	7.37:g.87011306G>A	ENSP00000331981:p.Trp353*					CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*|CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*	p.W353*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			11	1244	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		353					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Nonsense_Mutation	SNP	ENST00000331536.3	37	c.1059G>A	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062868	0.97246	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.8503	19.4212	0.94721	0.0:0.0:1.0:0.0	.	.	.	.	X	381;353;353	.	ENSP00000331981:W353X	W	+	3	0	CROT	86849242	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.160000	0.94734	2.674000	0.91012	0.467000	0.42956	TGG		0.313	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		55	223	0	0	0	1	0	55	223				
DNAH12	201625	broad.mit.edu	37	3	57494905	57494905	+	Silent	SNP	C	C	T	rs150553536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494905C>T	ENST00000351747.2	-	6	684	c.504G>A	c.(502-504)tcG>tcA	p.S168S	DNAH12_ENST00000311202.6_Silent_p.S168S|DNAH12_ENST00000389536.4_Silent_p.S168S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	168	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCTTCAAGCGATTTAACTG	0.308																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(502-504)tcG>tcA		dynein, axonemal, heavy chain 12		C	,	1,4405	2.1+/-5.4	0,1,2202	84.0	85.0	85.0		504,504	5.7	1.0	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	DNAH12	NM_178504.4,NM_198564.3	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	168/3093,168/458	57494905	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57494905C>T	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.504G>A	3.37:g.57494905C>T						DNAH12_ENST00000389536.4_Silent_p.S168S|DNAH12_ENST00000311202.6_Silent_p.S168S	p.S168S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			6	684	-			168			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.504G>A																																																																																					0.308	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		70	327	0	0	0	1	0	70	327				
HTR3B	9177	broad.mit.edu	37	11	113815474	113815474	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113815474A>C	ENST00000260191.2	+	8	1344	c.1087A>C	c.(1087-1089)Aca>Cca	p.T363P	HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	363					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TGCTGTGGTAACAGGTGTGTG	0.537																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(1087-1089)Aca>Cca		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							148.0	122.0	131.0					11																	113815474		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113815474A>C	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1087A>C	11.37:g.113815474A>C	ENSP00000260191:p.Thr363Pro					HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	p.T363P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	8	1344	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	363					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.1087A>C	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	A	6.484	0.457526	0.12342	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.23552	1.9;1.9	5.11	2.78	0.32641	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.660669	0.16067	N	0.231187	T	0.12050	0.0293	N	0.11789	0.175	0.30936	N	0.726339	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.12477	-1.0546	10	0.31617	T	0.26	-2.0701	4.6748	0.12706	0.7057:0.1958:0.0985:0.0	.	352;363	O95264-2;O95264	.;5HT3B_HUMAN	P	363;352	ENSP00000260191:T363P;ENSP00000443118:T352P	ENSP00000260191:T363P	T	+	1	0	HTR3B	113320684	0.009000	0.17119	0.707000	0.30419	0.119000	0.20118	-0.088000	0.11198	0.776000	0.33473	0.533000	0.62120	ACA		0.537	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		61	305	0	0	0	1	0	61	305				
ICE2	79664	broad.mit.edu	37	15	60720793	60720793	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60720793T>G	ENST00000261520.4	-	15	2889	c.2655A>C	c.(2653-2655)gcA>gcC	p.A885A	NARG2_ENST00000439632.1_Silent_p.A748A	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACAAATTGTATGCTGTCCTAG	0.428																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(2653-2655)gcA>gcC		NMDA receptor regulated 2							78.0	76.0	77.0					15																	60720793		2203	4300	6503	SO:0001819	synonymous_variant	79664					nucleus		g.chr15:60720793T>G																												ENST00000261520.4:c.2655A>C	15.37:g.60720793T>G						NARG2_ENST00000439632.1_Silent_p.A748A	p.A885A	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			15	2889	-			885						Silent	SNP	ENST00000261520.4	37	c.2655A>C	CCDS10176.1																																																																																				0.428	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			7	289	0	0	0	1	0	7	289				
CACNG5	27091	broad.mit.edu	37	17	64881064	64881064	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881064G>A	ENST00000533854.1	+	6	807				CACNG5_ENST00000169565.3_Missense_Mutation_p.A286T|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAGGCCCCAGCAGCGAGCCC	0.622																																						ENST00000169565.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(856-858)Gca>Aca		calcium channel, voltage-dependent, gamma subunit 5							76.0	72.0	73.0					17																	64881064		2203	4300	6503	SO:0001627	intron_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64881064G>A	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.571-36G>A	17.37:g.64881064G>A						CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron	p.A286T			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	856	+			0					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.856G>A	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809849	0.31961	.	.	ENSG00000075429	ENST00000169565	T	0.53640	0.61	3.43	0.0217	0.14130	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23368	-1.0190	5	.	.	.	.	3.1778	0.06575	0.1013:0.1654:0.5496:0.1837	.	.	.	.	T	286	ENSP00000169565:A286T	.	A	+	1	0	CACNG5	62311526	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.662000	0.25038	0.066000	0.16515	-0.216000	0.12614	GCA		0.622	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		56	286	0	0	0	1	0	56	286				
DCHS2	54798	broad.mit.edu	37	4	155254182	155254182	+	Missense_Mutation	SNP	C	C	T	rs200145926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254182C>T	ENST00000357232.4	-	9	1680	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	561	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAGGATGCACGCCTTGGTCC	0.612																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1681-1683)Gtg>Atg		dachsous cadherin-related 2							61.0	62.0	62.0					4																	155254182		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254182C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1681G>A	4.37:g.155254182C>T	ENSP00000349768:p.Val561Met					DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M	p.V561M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1680	-	all_hematologic(180;0.208)	Renal(120;0.0854)	561			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1681G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225699	0.39300	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.52057	0.68;0.68	5.73	-2.6	0.06190	Cadherin (4);Cadherin-like (1);	1.191250	0.06159	N	0.675671	T	0.33933	0.0880	L	0.41356	1.27	0.09310	N	0.999999	P;P	0.36110	0.537;0.476	B;B	0.31686	0.125;0.134	T	0.23368	-1.0190	10	0.44086	T	0.13	.	7.315	0.26495	0.0:0.1804:0.3299:0.4897	.	1060;561	E9PC11;Q6V1P9	.;PCD23_HUMAN	M	561;1060;1060	ENSP00000349768:V561M;ENSP00000345062:V1060M	ENSP00000345062:V1060M	V	-	1	0	DCHS2	155473632	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.289000	0.08365	-0.723000	0.04915	-0.136000	0.14681	GTG		0.612	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		77	283	0	0	0	1	0	77	283				
EPHB3	2049	broad.mit.edu	37	3	184298910	184298910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184298910C>T	ENST00000330394.2	+	14	3141	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	897					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CAAGCTCATCCGCAATGCTGC	0.587																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2689-2691)Cgc>Tgc		EPH receptor B3							82.0	94.0	90.0					3																	184298910		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298910C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2689C>T	3.37:g.184298910C>T	ENSP00000332118:p.Arg897Cys					EIF2B5_ENST00000444495.1_Intron	p.R897C	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		14	3141	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		897					Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2689C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345770	0.61073	.	.	ENSG00000182580	ENST00000330394	T	0.62639	0.01	3.9	3.0	0.34707	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84958	0.0875	10	0.87932	D	0	.	13.1962	0.59740	0.0:0.8382:0.1618:0.0	.	897	P54753	EPHB3_HUMAN	C	897	ENSP00000332118:R897C	ENSP00000332118:R897C	R	+	1	0	EPHB3	185781604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	0.940000	0.37473	0.478000	0.44815	CGC		0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		9	488	0	0	0	1	0	9	488				
NLRP1	22861	broad.mit.edu	37	17	5456838	5456838	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5456838A>C	ENST00000572272.1	-	5	2395	c.2396T>G	c.(2395-2397)aTt>aGt	p.I799S	NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000345221.3_Missense_Mutation_p.I799S|NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	799					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGAGAAGAGAATCTGCCAATA	0.542																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2395-2397)aTt>aGt		NLR family, pyrin domain containing 1							85.0	77.0	79.0					17																	5456838		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5456838A>C	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2396T>G	17.37:g.5456838A>C	ENSP00000460475:p.Ile799Ser					NLRP1_ENST00000572272.1_Missense_Mutation_p.I799S|NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S	p.I799S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			5	2950	-		Colorectal(1115;3.48e-05)	799					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2396T>G	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	6.944	0.543931	0.13312	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.48	-0.917	0.10485	.	2.379340	0.02045	N	0.049571	T	0.40473	0.1118	L	0.52573	1.65	0.09310	N	0.999994	P;P;P;B;B;B	0.46457	0.58;0.878;0.878;0.044;0.059;0.073	B;B;B;B;B;B	0.44108	0.373;0.441;0.441;0.029;0.03;0.046	T	0.21895	-1.0232	10	0.22109	T	0.4	.	0.8203	0.01110	0.3889:0.1741:0.1:0.3371	.	65;799;799;799;799;799	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	S	799;799;799;799;799;65	ENSP00000442029:I799S;ENSP00000262467:I799S;ENSP00000269280:I799S;ENSP00000346390:I799S;ENSP00000324366:I799S	ENSP00000262467:I799S	I	-	2	0	NLRP1	5397562	0.020000	0.18652	0.001000	0.08648	0.008000	0.06430	0.215000	0.17562	0.008000	0.14787	0.533000	0.62120	ATT		0.542	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		42	233	0	0	0	1	0	42	233				
NREP	9315	broad.mit.edu	37	5	111091557	111091557	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111091557C>T	ENST00000508870.1	-	0	192				NREP_ENST00000419114.2_Intron|NREP_ENST00000509427.1_Intron|NREP_ENST00000257435.7_Intron|NREP_ENST00000450761.2_Intron|NREP_ENST00000507742.1_Intron|NREP_ENST00000447165.2_De_novo_Start_OutOfFrame|NREP_ENST00000509979.1_Intron|NREP_ENST00000395634.3_Intron|NREP_ENST00000455559.2_Intron|NREP_ENST00000379671.3_Intron|NREP_ENST00000515855.1_Intron|NREP_ENST00000509025.1_Intron|NREP_ENST00000446294.2_Intron|NREP_ENST00000453526.2_Intron			Q16612	NREP_HUMAN	neuronal regeneration related protein						axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACAGTAGACACATCGCCTCAC	0.393																																						ENST00000447165.2																			0													neuronal regeneration related protein							93.0	79.0	83.0					5																	111091557		692	1591	2283			9315					cytoplasm		g.chr5:111091557C>T	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000508870.1:c.-88G>A	5.37:g.111091557C>T						NREP_ENST00000507742.1_Intron|NREP_ENST00000455559.2_Intron|NREP_ENST00000419114.2_Intron|NREP_ENST00000515855.1_Intron|NREP_ENST00000508870.1_De_novo_Start_OutOfFrame|NREP_ENST00000257435.7_Intron|NREP_ENST00000450761.2_Intron|NREP_ENST00000453526.2_Intron|NREP_ENST00000395634.3_Intron|NREP_ENST00000509025.1_Intron|NREP_ENST00000509979.1_Intron|NREP_ENST00000509427.1_Intron|NREP_ENST00000446294.2_Intron|NREP_ENST00000379671.3_Intron		NM_001142483.1	NP_001135955.1	Q16612	NP311_HUMAN			0	391	-								B2RDN8|B7Z5D2|D3DSZ8	Translation_Start_Site	SNP	ENST00000508870.1	37		CCDS4105.1																																																																																				0.393	NREP-017	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370896.1	NM_004772		32	234	0	0	0	1	0	32	234				
RBP4	5950	broad.mit.edu	37	10	95353719	95353719	+	Silent	SNP	G	G	A	rs374650128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353719G>A	ENST00000371467.1	-	5	748	c.429C>T	c.(427-429)ctC>ctT	p.L143L	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Silent_p.L143L|RBP4_ENST00000371469.2_Silent_p.L141L			P02753	RET4_HUMAN	retinol binding protein 4, plasma	143					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGTGCCATCGAGGTTCAGGA	0.597																																					Pancreas(5;160 256 1117 46697 50185)	ENST00000371467.1																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(427-429)ctC>ctT		retinol binding protein 4, plasma	Vitamin A(DB00162)	G		0,4406		0,0,2203	146.0	120.0	129.0		429	-11.6	0.0	10		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RBP4	NM_006744.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		143/202	95353719	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95353719G>A	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.429C>T	10.37:g.95353719G>A						FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Silent_p.L143L|RBP4_ENST00000371469.2_Silent_p.L141L	p.L143L			P02753	RET4_HUMAN			5	748	-		Colorectal(252;0.122)	143					D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Silent	SNP	ENST00000371467.1	37	c.429C>T	CCDS31249.1																																																																																				0.597	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		115	532	0	0	0	1	0	115	532				
XYLB	9942	broad.mit.edu	37	3	38408309	38408309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38408309G>A	ENST00000207870.3	+	7	608	c.518G>A	c.(517-519)gGg>gAg	p.G173E	XYLB_ENST00000542835.1_Missense_Mutation_p.G36E	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	173					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CGTTTTACAGGGAACCAAATT	0.393																																						ENST00000207870.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.(517-519)gGg>gAg		xylulokinase homolog (H. influenzae)							80.0	81.0	81.0					3																	38408309		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38408309G>A	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.518G>A	3.37:g.38408309G>A	ENSP00000207870:p.Gly173Glu					XYLB_ENST00000542835.1_Missense_Mutation_p.G36E	p.G173E	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	7	608	+			173					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.518G>A	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.716084	0.89205	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.48201	0.82;0.82	5.43	5.43	0.79202	Carbohydrate kinase, FGGY, N-terminal (1);	0.061528	0.64402	D	0.000003	T	0.76535	0.4001	M	0.92970	3.365	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82196	-0.0577	10	0.87932	D	0	.	17.1436	0.86760	0.0:0.0:1.0:0.0	.	36;173	B4DDT2;O75191	.;XYLB_HUMAN	E	173;36	ENSP00000207870:G173E;ENSP00000443659:G36E	ENSP00000207870:G173E	G	+	2	0	XYLB	38383313	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.734000	0.84928	2.727000	0.93392	0.550000	0.68814	GGG		0.393	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		49	261	0	0	0	1	0	49	261				
PARD3B	117583	broad.mit.edu	37	2	206110532	206110532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206110532C>T	ENST00000406610.2	+	16	2378	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	724					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.A662V(1)|p.A724V(1)|p.A663V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CACTCATTGGCTGGACAAAAA	0.393																																						ENST00000406610.2																			3	Substitution - Missense(3)	p.A662V(1)|p.A724V(1)|p.A663V(1)	endometrium(3)	breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2170-2172)gCt>gTt		par-3 family cell polarity regulator beta							154.0	146.0	149.0					2																	206110532		1829	4086	5915	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206110532C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2171C>T	2.37:g.206110532C>T	ENSP00000385848:p.Ala724Val					PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V	p.A724V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	16	2378	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	724					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2171C>T		.	.	.	.	.	.	.	.	.	.	C	11.32	1.603768	0.28534	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.31247	1.54;1.54;1.5;1.54	5.85	4.97	0.65823	.	0.164519	0.40728	N	0.001039	T	0.24236	0.0587	L	0.39633	1.23	0.35627	D	0.80992	P;B;B;P;B	0.39181	0.663;0.282;0.063;0.532;0.007	B;B;B;B;B	0.35607	0.206;0.102;0.026;0.175;0.013	T	0.21895	-1.0232	10	0.30854	T	0.27	.	12.6935	0.56990	0.0:0.9246:0.0:0.0754	.	724;724;724;662;724	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	724;662;724;724	ENSP00000385848:A724V;ENSP00000351618:A662V;ENSP00000317261:A724V;ENSP00000340280:A724V	ENSP00000340280:A724V	A	+	2	0	PARD3B	205818777	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.570000	0.45981	2.768000	0.95171	0.655000	0.94253	GCT		0.393	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		107	310	0	0	0	1	0	107	310				
PRR14	78994	broad.mit.edu	37	16	30667463	30667463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30667463G>A	ENST00000542965.2	+	11	2045	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q|FBRS_ENST00000356166.6_5'Flank			Q9BWN1	PRR14_HUMAN	proline rich 14	530										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGCCTTCCTCGATCACGAAGA	0.642																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1588-1590)cGa>cAa		proline rich 14							71.0	78.0	76.0					16																	30667463		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30667463G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1589G>A	16.37:g.30667463G>A	ENSP00000441641:p.Arg530Gln					PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q	p.R530Q			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		11	2045	+			530					Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1589G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029849	0.75504	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.59906	0.23;0.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.68593	2.085	0.44110	D	0.996881	D	0.76494	0.999	D	0.68765	0.96	T	0.75468	-0.3307	10	0.87932	D	0	-7.6571	17.5606	0.87906	0.0:0.0:1.0:0.0	.	530	Q9BWN1	PRR14_HUMAN	Q	503;530;530	ENSP00000300835:R530Q;ENSP00000441641:R530Q	ENSP00000287463:R503Q	R	+	2	0	PRR14	30574964	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	4.874000	0.63064	2.890000	0.99128	0.650000	0.86243	CGA		0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		63	615	0	0	0	1	0	63	615				
PRSS50	29122	broad.mit.edu	37	3	46784535	46784535	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46784535C>A	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.Q107H			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCTCAGCCTCCTGCAGCTCTG	0.577																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(319-321)caG>caT		protease, serine, 45							59.0	66.0	64.0					3																	46784535		2133	4259	6392	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46784535C>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+5579G>T	3.37:g.46784535C>A						PRSS50_ENST00000460241.1_Intron	p.Q107H	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			3	320	-			139			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.321G>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	52	19.245299	0.99917	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.94092	-3.35	4.83	3.96	0.45880	.	0.384961	0.22537	N	0.058772	D	0.94827	0.8329	.	.	.	0.27577	N	0.949706	D	0.63046	0.992	P	0.60473	0.875	D	0.89351	0.3661	9	0.54805	T	0.06	.	9.2992	0.37835	0.0:0.9023:0.0:0.0977	.	107	Q7RTY3-2	.	H	139;107	ENSP00000401932:Q107H	ENSP00000330940:Q139H	Q	-	3	2	PRSS45	46759539	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.290000	0.33319	1.430000	0.47334	0.650000	0.86243	CAG		0.577	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			42	212	1	0	2.9001e-28	1	3.37151e-28	42	212				
ACAD8	27034	broad.mit.edu	37	11	134123498	134123498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134123498C>T	ENST00000281182.4	+	1	110	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	ACAD8_ENST00000537423.1_5'UTR|THYN1_ENST00000392594.3_5'Flank|THYN1_ENST00000341541.3_5'Flank|ACAD8_ENST00000374752.4_Silent_p.L2L|THYN1_ENST00000392595.2_5'Flank|THYN1_ENST00000352327.5_5'Flank|ACAD8_ENST00000543332.1_5'UTR|THYN1_ENST00000525677.1_5'Flank	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	2					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GGCGGCTATGCTGTGGAGCGG	0.706																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(4-6)Ctg>Ttg		acyl-CoA dehydrogenase family, member 8							5.0	7.0	6.0					11																	134123498		1995	3919	5914	SO:0001819	synonymous_variant	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134123498C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.4C>T	11.37:g.134123498C>T						ACAD8_ENST00000537423.1_5'UTR|ACAD8_ENST00000543332.1_5'UTR|ACAD8_ENST00000374752.4_Silent_p.L2L	p.L2L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	1	110	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	2					B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	c.4C>T	CCDS8498.1																																																																																				0.706	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		8	34	0	0	0	1	0	8	34				
UGT1A4	54657	broad.mit.edu	37	2	234627942	234627942	+	Missense_Mutation	SNP	C	C	T	rs148565852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234627942C>T	ENST00000373409.3	+	1	519	c.476C>T	c.(475-477)gCg>gTg	p.A159V	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	159					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTCTGTGGGGCGGTGCTGGCT	0.488																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(475-477)gCg>gTg				C	,VAL/ALA,,,,,,	3,4403	6.2+/-15.9	0,3,2200	173.0	174.0	173.0		,476,,,,,,	2.5	0.0	2	dbSNP_134	173	0,8600		0,0,4300	no	intron,missense,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,64,,,,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,,,,,	,159/535,,,,,,	234627942	3,13003	2203	4300	6503	SO:0001583	missense	0							g.chr2:234627942C>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.476C>T	2.37:g.234627942C>T	ENSP00000362508:p.Ala159Val					UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron	p.A159V	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	519	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.476C>T	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452340	0.01080	6.81E-4	0.0	ENSG00000244474	ENST00000373409	T	0.61040	0.14	4.31	2.51	0.30379	.	.	.	.	.	T	0.31040	0.0784	N	0.04245	-0.25	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.21360	0.004;0.034	T	0.18967	-1.0320	9	0.39692	T	0.17	.	3.9952	0.09554	0.2919:0.4551:0.0:0.253	.	159;159	B8K288;P22310	.;UD14_HUMAN	V	159	ENSP00000362508:A159V	ENSP00000362508:A159V	A	+	2	0	UGT1A4	234292681	0.000000	0.05858	0.022000	0.16811	0.000000	0.00434	-0.418000	0.07080	0.299000	0.22661	-1.537000	0.00914	GCG		0.488	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		299	897	0	0	0	1	0	299	897				
NEMF	9147	broad.mit.edu	37	14	50255946	50255946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50255946T>G	ENST00000298310.5	-	28	3262	c.2813A>C	c.(2812-2814)aAc>aCc	p.N938T	NEMF_ENST00000382135.2_Missense_Mutation_p.N138T|NEMF_ENST00000546046.1_Missense_Mutation_p.N917T|NEMF_ENST00000545773.1_Missense_Mutation_p.N896T|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	938					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTTCTTAATGTTGTCAGAGAC	0.428																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2812-2814)aAc>aCc		nuclear export mediator factor							208.0	203.0	205.0					14																	50255946		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50255946T>G	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2813A>C	14.37:g.50255946T>G	ENSP00000298310:p.Asn938Thr					NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.N138T|NEMF_ENST00000545773.1_Missense_Mutation_p.N896T|NEMF_ENST00000546046.1_Missense_Mutation_p.N917T	p.N938T			O60524	NEMF_HUMAN			28	3262	-			938					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2813A>C	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	T	0.085	-1.176537	0.01646	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.31	-0.159	0.13379	.	0.923564	0.09302	N	0.820865	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.14805	0.001;0.004;0.006;0.0;0.011	B;B;B;B;B	0.16289	0.006;0.009;0.007;0.0;0.015	T	0.26573	-1.0099	10	0.14656	T	0.56	1.0719	3.5123	0.07713	0.2167:0.4141:0.0:0.3691	.	917;913;896;938;138	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	T	938;896;138;917;710;896	ENSP00000298310:N938T;ENSP00000438309:N896T;ENSP00000441016:N917T;ENSP00000452540:N896T	ENSP00000298310:N938T	N	-	2	0	NEMF	49325696	0.000000	0.05858	0.006000	0.13384	0.174000	0.22865	0.178000	0.16820	-0.397000	0.07691	-0.385000	0.06624	AAC		0.428	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		127	663	0	0	0	1	0	127	663				
TBC1D8	11138	broad.mit.edu	37	2	101624596	101624596	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624596G>T	ENST00000376840.4	-	20	3109	c.3110C>A	c.(3109-3111)tCt>tAt	p.S1037Y	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.S1052Y			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1037					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCAGCTTCCAGAGCTGCTGCC	0.582																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(3154-3156)tCt>tAt		TBC1 domain family, member 8 (with GRAM domain)							26.0	30.0	29.0					2																	101624596		2048	4207	6255	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101624596G>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3110C>A	2.37:g.101624596G>T	ENSP00000366036:p.Ser1037Tyr					RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.S1037Y|RPL31_ENST00000409650.1_Intron	p.S1052Y	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			20	3285	-			1037					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.3155C>A	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465430	0.63513	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03301	3.98;3.98	5.33	5.33	0.75918	.	0.128230	0.37136	N	0.002237	T	0.05410	0.0143	L	0.40543	1.245	0.32090	N	0.591968	P	0.49090	0.919	P	0.49708	0.62	T	0.01715	-1.1289	10	0.05351	T	0.99	-16.2886	12.818	0.57677	0.0849:0.0:0.9151:0.0	.	1037	O95759	TBCD8_HUMAN	Y	1037;1052	ENSP00000366036:S1037Y;ENSP00000386856:S1052Y	ENSP00000366036:S1037Y	S	-	2	0	TBC1D8	100991028	0.982000	0.34865	0.946000	0.38457	0.902000	0.53008	1.889000	0.39718	2.454000	0.82982	0.655000	0.94253	TCT		0.582	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		58	146	1	0	2.17126e-26	1	2.5019e-26	58	146				
BAHCC1	57597	broad.mit.edu	37	17	79411733	79411733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79411733G>A	ENST00000307745.7	+	12	2552	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D																								CTGCCCCCCGGCTTCCCCGCC	0.711																																						ENST00000307745.7																			0											c.(2551-2553)gGc>gAc									28.0	37.0	34.0					17																	79411733		2022	4139	6161	SO:0001583	missense	0							g.chr17:79411733G>A																												ENST00000307745.7:c.2552G>A	17.37:g.79411733G>A	ENSP00000303486:p.Gly851Asp						p.G851D							12	2552	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.2552G>A		.	.	.	.	.	.	.	.	.	.	G	16.64	3.179524	0.57800	.	.	ENSG00000171282	ENST00000307745	T	0.53640	0.61	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000073	T	0.67505	0.2900	M	0.75264	2.295	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70450	-0.4868	10	0.56958	D	0.05	.	14.1577	0.65428	0.0:0.1511:0.8488:0.0	.	851;851	Q9P281;F8WBW8	BAHC1_HUMAN;.	D	851	ENSP00000303486:G851D	ENSP00000303486:G851D	G	+	2	0	AC110285.1	77026328	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.649000	0.46656	2.385000	0.81259	0.591000	0.81541	GGC		0.711	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				75	250	0	0	0	1	0	75	250				
PRDM5	11107	broad.mit.edu	37	4	121702388	121702388	+	Silent	SNP	G	G	A	rs374433951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702388G>A	ENST00000264808.3	-	12	1593	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	PRDM5_ENST00000428209.2_Silent_p.V420V|PRDM5_ENST00000515109.1_Silent_p.V420V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	451					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAACCACCTGGACATGAACAT	0.388																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1351-1353)gtC>gtT		PR domain containing 5		G		1,4405	2.1+/-5.4	0,1,2202	164.0	133.0	144.0		1353	2.2	1.0	4		144	0,8600		0,0,4300	no	coding-synonymous	PRDM5	NM_018699.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		451/631	121702388	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121702388G>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1353C>T	4.37:g.121702388G>A						PRDM5_ENST00000428209.2_Silent_p.V420V|PRDM5_ENST00000515109.1_Silent_p.V420V	p.V451V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			12	1593	-			451					Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	c.1353C>T	CCDS3716.1																																																																																				0.388	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			8	301	0	0	0	1	0	8	301				
RAB11A	8766	broad.mit.edu	37	15	66170283	66170283	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66170283A>T	ENST00000261890.2	+	3	548	c.420A>T	c.(418-420)agA>agT	p.R140S	RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S|RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S|RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	140					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						ATGAAGCAAGAGCTTTTGCAG	0.378																																						ENST00000261890.2																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(418-420)agA>agT		RAB11A, member RAS oncogene family							203.0	181.0	188.0					15																	66170283		2201	4299	6500	SO:0001583	missense	8766				cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	g.chr15:66170283A>T	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.420A>T	15.37:g.66170283A>T	ENSP00000261890:p.Arg140Ser					RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S|RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S|RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S	p.R140S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN			3	548	+			140					B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	37	c.420A>T	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732545	0.48939	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	T;T	0.76578	-1.03;-1.03	5.59	4.4	0.53042	Small GTP-binding protein domain (1);	0.045017	0.85682	D	0.000000	T	0.61813	0.2377	N	0.20328	0.56	0.53688	D	0.999975	B;B	0.14805	0.001;0.011	B;B	0.14023	0.002;0.01	T	0.61043	-0.7142	10	0.59425	D	0.04	.	7.7218	0.28736	0.7179:0.1441:0.0:0.138	.	140;140	B4DT13;P62491	.;RB11A_HUMAN	S	140	ENSP00000261890:R140S;ENSP00000405767:R140S	ENSP00000261890:R140S	R	+	3	2	RAB11A	63957337	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.411000	0.21115	2.132000	0.65825	0.533000	0.62120	AGA		0.378	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			98	506	0	0	0	1	0	98	506				
SLITRK5	26050	broad.mit.edu	37	13	88329152	88329152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329152G>A	ENST00000325089.6	+	2	1728	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	SLITRK5_ENST00000400028.3_Silent_p.P262P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	503					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTTGACCCGGTCCCAAACC	0.537																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1507-1509)ccG>ccA		SLIT and NTRK-like family, member 5							72.0	75.0	74.0					13																	88329152		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329152G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1509G>A	13.37:g.88329152G>A						SLITRK5_ENST00000400028.3_Silent_p.P262P	p.P503P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1728	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		503					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1509G>A	CCDS9465.1																																																																																				0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			75	362	0	0	0	1	0	75	362				
NEB	4703	broad.mit.edu	37	2	152512680	152512680	+	Missense_Mutation	SNP	C	C	T	rs373778424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512680C>T	ENST00000172853.10	-	49	6629	c.6482G>A	c.(6481-6483)cGc>cAc	p.R2161H	NEB_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000397345.3_Missense_Mutation_p.R2161H|NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000427231.2_Missense_Mutation_p.R2161H			P20929	NEBU_HUMAN	nebulin	2161					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTCTGTATGCGATTCATATT	0.453																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(6481-6483)cGc>cAc		nebulin		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4107		0,1,2053	370.0	360.0	364.0		6482,6482,6482	-7.7	0.6	2		364	0,8404		0,0,4202	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,1,6255	TT,TC,CC		0.0,0.0243,0.0080	benign,benign,benign	2161/8526,2161/8526,2161/6670	152512680	1,12511	2054	4202	6256	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512680C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6482G>A	2.37:g.152512680C>T	ENSP00000172853:p.Arg2161His					NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000172853.10_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000427231.2_Missense_Mutation_p.R2161H	p.R2161H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	49	6684	-			2161					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6482G>A		.	.	.	.	.	.	.	.	.	.	C	12.08	1.830523	0.32329	2.43E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.83	-7.68	0.01268	.	0.892392	0.10007	N	0.727734	T	0.21550	0.0519	L	0.29908	0.895	0.38568	D	0.94988	B	0.02656	0.0	B	0.04013	0.001	T	0.04855	-1.0922	10	0.40728	T	0.16	.	18.2037	0.89847	0.0:0.597:0.0:0.403	.	2161	P20929	NEBU_HUMAN	H	2161	ENSP00000386259:R2161H;ENSP00000380505:R2161H;ENSP00000416578:R2161H;ENSP00000172853:R2161H	ENSP00000172853:R2161H	R	-	2	0	NEB	152220926	0.000000	0.05858	0.578000	0.28575	0.954000	0.61252	-1.351000	0.02622	-1.394000	0.02077	-0.253000	0.11424	CGC		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		251	1379	0	0	0	1	0	251	1379				
TTC37	9652	broad.mit.edu	37	5	94818235	94818235	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94818235A>G	ENST00000358746.2	-	39	4452	c.4154T>C	c.(4153-4155)gTa>gCa	p.V1385A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1385						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCTTCAAGTACAGCATCTGG	0.408																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4153-4155)gTa>gCa		tetratricopeptide repeat domain 37							179.0	173.0	175.0					5																	94818235		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94818235A>G	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4154T>C	5.37:g.94818235A>G	ENSP00000351596:p.Val1385Ala						p.V1385A	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			39	4452	-			1385					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4154T>C	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407050	0.42715	.	.	ENSG00000198677	ENST00000358746	T	0.50548	0.74	5.83	4.68	0.58851	Tetratricopeptide-like helical (1);	0.174489	0.49305	N	0.000142	T	0.28499	0.0705	N	0.20986	0.625	0.40485	D	0.980488	B	0.22146	0.065	B	0.16289	0.015	T	0.11991	-1.0565	10	0.02654	T	1	.	11.8182	0.52224	0.9318:0.0:0.0682:0.0	.	1385	Q6PGP7	TTC37_HUMAN	A	1385	ENSP00000351596:V1385A	ENSP00000351596:V1385A	V	-	2	0	TTC37	94843991	0.971000	0.33674	0.692000	0.30179	0.975000	0.68041	5.220000	0.65267	1.045000	0.40225	-0.256000	0.11100	GTA		0.408	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		121	593	0	0	0	1	0	121	593				
RAD54L	8438	broad.mit.edu	37	1	46739361	46739361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46739361C>T	ENST00000371975.4	+	14	2226	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	RAD54L_ENST00000442598.1_Silent_p.L518L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	518	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CAAAGTAGTGCTGGTGTCGAA	0.537								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1552-1554)Ctg>Ttg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							71.0	75.0	74.0					1																	46739361		2203	4300	6503	SO:0001819	synonymous_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739361C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1552C>T	1.37:g.46739361C>T						RAD54L_ENST00000442598.1_Silent_p.L518L|RAD54L_ENST00000488942.1_3'UTR	p.L518L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	14	2226	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	518			Helicase C-terminal.		Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	c.1552C>T	CCDS532.1																																																																																				0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		16	96	0	0	0	1	0	16	96				
USP24	23358	broad.mit.edu	37	1	55620367	55620367	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55620367G>T	ENST00000294383.6	-	13	1530	c.1531C>A	c.(1531-1533)Cat>Aat	p.H511N	USP24_ENST00000407756.1_Missense_Mutation_p.H399N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	511					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACAAACAAATGATTAAGCTGA	0.363																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1531-1533)Cat>Aat		ubiquitin specific peptidase 24							92.0	85.0	87.0					1																	55620367		1824	4079	5903	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55620367G>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1531C>A	1.37:g.55620367G>T	ENSP00000294383:p.His511Asn					USP24_ENST00000407756.1_Missense_Mutation_p.H399N	p.H511N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			13	1530	-			511					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.1531C>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589352	0.86851	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.78364	-1.17;-1.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.68593	2.085	0.52099	D	0.999946	P	0.45126	0.851	P	0.58391	0.838	D	0.85825	0.1388	10	0.54805	T	0.06	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	399	B7WPF4	.	N	511;399	ENSP00000294383:H511N;ENSP00000385700:H399N	ENSP00000294383:H511N	H	-	1	0	USP24	55392955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.423000	0.97461	2.708000	0.92522	0.650000	0.86243	CAT		0.363	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			10	117	1	0	0.000442599	1	0.000448314	10	117				
CASKIN1	57524	broad.mit.edu	37	16	2237180	2237180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2237180C>A	ENST00000343516.6	-	8	914	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	274					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCAACAGCTGCTTGATCTCCC	0.662																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(820-822)aaG>aaT		CASK interacting protein 1							75.0	77.0	77.0					16																	2237180		2146	4253	6399	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2237180C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.822G>T	16.37:g.2237180C>A	ENSP00000345436:p.Lys274Asn						p.K274N	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			8	914	-			274					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.822G>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201134	0.58234	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.69561	-0.41	3.69	1.7	0.24286	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.68650	0.3024	L	0.34521	1.04	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.67696	-0.5604	9	0.72032	D	0.01	-22.2528	6.8935	0.24243	0.0:0.6855:0.0:0.3145	.	274	Q8WXD9	CSKI1_HUMAN	N	274;103	ENSP00000345436:K274N	ENSP00000345436:K274N	K	-	3	2	CASKIN1	2177181	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.588000	0.23924	0.891000	0.36235	0.455000	0.32223	AAG		0.662	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		16	349	1	0	4.14922e-12	1	4.44601e-12	16	349				
SHOX2	6474	broad.mit.edu	37	3	157816011	157816011	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157816011G>A	ENST00000425436.3	-	5	826	c.801C>T	c.(799-801)caC>caT	p.H267H	SHOX2_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000490689.2_Silent_p.H126H	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	267					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGCCAGGTGCGGATGCA	0.672																																						ENST00000490689.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20						c.(376-378)caC>caT		short stature homeobox 2							60.0	64.0	63.0					3																	157816011		2203	4298	6501	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157816011G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.801C>T	3.37:g.157816011G>A						SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000425436.3_Silent_p.H267H	p.H126H			O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	1911	-			267					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.378C>T	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459875	0.63401	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.73705	0.3621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72693	-0.4216	4	.	.	.	.	17.6754	0.88229	0.0:0.0:1.0:0.0	.	.	.	.	I	158	.	.	T	-	2	0	SHOX2	159298705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.527000	0.85204	0.655000	0.94253	ACC		0.672	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			128	608	0	0	0	1	0	128	608				
TMCO4	255104	broad.mit.edu	37	1	20063940	20063940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20063940G>T	ENST00000294543.6	-	13	1430	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T|TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	397						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AAGGTGACAGGTCGTCGCCCC	0.517																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1189-1191)Cct>Act		transmembrane and coiled-coil domains 4							93.0	88.0	90.0					1																	20063940		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20063940G>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1189C>A	1.37:g.20063940G>T	ENSP00000294543:p.Pro397Thr					TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T	p.P397T	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	13	1430	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	397					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1189C>A	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314938	0.81358	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.61040	0.14;0.14;0.14	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87410	0.2375	10	0.87932	D	0	-10.5998	16.9883	0.86346	0.0:0.0:1.0:0.0	.	397	Q5TGY1	TMCO4_HUMAN	T	397;397;357	ENSP00000294543:P397T;ENSP00000364269:P397T;ENSP00000364264:P357T	ENSP00000294543:P397T	P	-	1	0	TMCO4	19936527	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	8.868000	0.92320	2.689000	0.91719	0.655000	0.94253	CCT		0.517	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		70	323	1	0	1.42676e-28	1	1.66098e-28	70	323				
OTUD7B	56957	broad.mit.edu	37	1	149939346	149939346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939346C>A	ENST00000369135.4	-	4	669	c.375G>T	c.(373-375)gaG>gaT	p.E125D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	125					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGGGGGTGCTCATTGCTCC	0.557																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(373-375)gaG>gaT		OTU domain containing 7B							69.0	73.0	72.0					1																	149939346		1965	4153	6118	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149939346C>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.375G>T	1.37:g.149939346C>A	ENSP00000358131:p.Glu125Asp					OTUD7B_ENST00000479905.1_Intron	p.E125D	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		4	669	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		125					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.375G>T	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886581	0.72410	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32753	1.44;1.48	5.14	4.21	0.49690	.	0.395933	0.29165	N	0.012952	T	0.20251	0.0487	L	0.51422	1.61	0.53005	D	0.999968	P	0.38992	0.653	B	0.41764	0.366	T	0.01516	-1.1335	9	.	.	.	-11.7346	13.3302	0.60483	0.0:0.922:0.0:0.078	.	125	Q6GQQ9	OTU7B_HUMAN	D	125	ENSP00000358131:E125D;ENSP00000408231:E125D	.	E	-	3	2	OTUD7B	148205970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.341000	0.33907	2.672000	0.90937	0.557000	0.71058	GAG		0.557	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		62	295	1	0	1.12612e-26	1	1.29957e-26	62	295				
PHKG2	5261	broad.mit.edu	37	16	30771464	30771464	+	3'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30771464C>T	ENST00000563588.1	+	0	4506				RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000541260.1_Intron|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank|C16orf93_ENST00000543610.1_Intron|C16orf93_ENST00000545825.1_3'UTR|RNF40_ENST00000563683.1_5'Flank|PHKG2_ENST00000424889.3_Silent_p.L370L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			gattggaaagctgatggcttg	0.418																																						ENST00000424889.3																			0				ovary(1)|skin(1)	2						c.(1108-1110)Ctg>Ttg		phosphorylase kinase, gamma 2 (testis)																																				SO:0001624	3_prime_UTR_variant	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30771464C>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.*3046C>T	16.37:g.30771464C>T						C16orf93_ENST00000545825.1_3'UTR|C16orf93_ENST00000543610.1_Intron|C16orf93_ENST00000541260.1_Intron|PHKG2_ENST00000563588.1_3'UTR	p.L370L	NM_001172432.1	NP_001165903.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		11	1318	+			0			Calmodulin-binding (domain-C) (By similarity).		A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	ENST00000563588.1	37	c.1108C>T	CCDS10690.1																																																																																				0.418	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		11	44	0	0	0	1	0	11	44				
ZNF833P	401898	broad.mit.edu	37	19	11796396	11796396	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11796396G>T	ENST00000344893.3	+	0	2395					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TCACACTGGAGAGCAGGTGTA	0.373																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5															49.0	48.0	49.0					19																	11796396		2202	4300	6502			0							g.chr19:11796396G>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796396G>T								NR_028594.1						0	2395	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.373	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		5	202	1	0	4.096e-09	1	4.30383e-09	5	202				
RAP1GAP	5909	broad.mit.edu	37	1	21928254	21928254	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21928254G>A	ENST00000374765.4	-	20	1775	c.1575C>T	c.(1573-1575)agC>agT	p.S525S	RAP1GAP_ENST00000542643.2_Silent_p.S551S|RAP1GAP_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000290101.4_Silent_p.S589S|RAP1GAP_ENST00000374761.2_Silent_p.S556S	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	525					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGACGTGCCCGCTGTCTGGGG	0.667																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1651-1653)agC>agT		RAP1 GTPase activating protein							70.0	65.0	67.0					1																	21928254		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21928254G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1575C>T	1.37:g.21928254G>A						RAP1GAP_ENST00000374765.4_Silent_p.S525S|RAP1GAP_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000374761.2_Silent_p.S556S|RAP1GAP_ENST00000290101.4_Silent_p.S589S	p.S551S	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	22	1955	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	525					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.1653C>T	CCDS218.1																																																																																				0.667	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		32	169	0	0	0	1	0	32	169				
EEA1	8411	broad.mit.edu	37	12	93206839	93206839	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93206839C>A	ENST00000322349.8	-	16	2224	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	654	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTCTGCTGATAGTAAT	0.358																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1960-1962)Gca>Tca		early endosome antigen 1							176.0	155.0	162.0					12																	93206839		2202	4300	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93206839C>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1960G>T	12.37:g.93206839C>A	ENSP00000317955:p.Ala654Ser						p.A654S	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			16	2224	-			654			Gln/Glu/Lys-rich.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1960G>T	CCDS31874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.202315|5.202315	0.94997|0.94997	.|.	.|.	ENSG00000102189|ENSG00000102189	ENST00000322349|ENST00000549790	T|.	0.44881|.	0.91|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.47852|.	U|.	0.000202|.	T|T	0.62744|0.62744	0.2453|0.2453	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.66324|0.66324	-0.5952|-0.5952	10|6	0.09084|0.87932	T|D	0.74|0	.|.	18.4977|18.4977	0.90870|0.90870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	654|.	Q15075|.	EEA1_HUMAN|.	S|H	654|23	ENSP00000317955:A654S|.	ENSP00000317955:A654S|ENSP00000446785:Q23H	A|Q	-|-	1|3	0|2	EEA1|EEA1	91730970|91730970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.547000|7.547000	0.82146|0.82146	2.465000|2.465000	0.83290|0.83290	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		40	358	1	0	2.95478e-19	1	3.29235e-19	40	358				
AP3M2	10947	broad.mit.edu	37	8	42024803	42024803	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42024803A>G	ENST00000518421.1	+	8	1216	c.925A>G	c.(925-927)Act>Gct	p.T309A	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A|AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	309	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGAGGGAGTGACTGTCACCAG	0.527																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(925-927)Act>Gct		adaptor-related protein complex 3, mu 2 subunit							119.0	107.0	111.0					8																	42024803		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42024803A>G	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.925A>G	8.37:g.42024803A>G	ENSP00000428787:p.Thr309Ala					AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A	p.T309A	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	1216	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	309			MHD.		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.925A>G	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	A	9.609	1.130808	0.21041	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.2	4.01	0.46588	Clathrin adaptor, mu subunit, C-terminal (3);	0.516808	0.21762	N	0.069497	T	0.16342	0.0393	L	0.31926	0.97	0.27209	N	0.959965	B	0.02656	0.0	B	0.09377	0.004	T	0.13764	-1.0497	10	0.27785	T	0.31	0.0121	12.2915	0.54820	0.8585:0.1415:0.0:0.0	.	309	P53677	AP3M2_HUMAN	A	309;309;309;194	ENSP00000428787:T309A;ENSP00000174653:T309A;ENSP00000380132:T309A;ENSP00000430616:T194A	ENSP00000174653:T309A	T	+	1	0	AP3M2	42143960	0.998000	0.40836	0.612000	0.29024	0.571000	0.35966	3.360000	0.52299	0.770000	0.33336	0.533000	0.62120	ACT		0.527	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			55	264	0	0	0	1	0	55	264				
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	G	A	rs148209555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92353550G>A	ENST00000342058.4	-	7	1319	c.726C>T	c.(724-726)ggC>ggT	p.G242G	FBLN5_ENST00000267620.10_Silent_p.G283G|FBLN5_ENST00000556154.1_Silent_p.G247G	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547																																						ENST00000267620.10																			1	Substitution - coding silent(1)	p.G242G(1)	endometrium(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(847-849)ggC>ggT		fibulin 5		G		1,4405	2.1+/-5.4	0,1,2202	215.0	191.0	199.0		726	-10.6	0.0	14	dbSNP_134	199	0,8600		0,0,4300	no	coding-synonymous	FBLN5	NM_006329.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		242/449	92353550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92353550G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.726C>T	14.37:g.92353550G>A						FBLN5_ENST00000342058.4_Silent_p.G242G|FBLN5_ENST00000556154.1_Silent_p.G247G	p.G283G			Q9UBX5	FBLN5_HUMAN			8	1018	-		all_cancers(154;0.0722)	242			EGF-like 5; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	c.849C>T	CCDS9898.1																																																																																				0.547	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			129	676	0	0	0	1	0	129	676				
DOCK4	9732	broad.mit.edu	37	7	111508079	111508079	+	Silent	SNP	C	C	T	rs368007039	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111508079C>T	ENST00000437633.1	-	22	2497	c.2241G>A	c.(2239-2241)tcG>tcA	p.S747S	DOCK4_ENST00000428084.1_Silent_p.S747S|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	747					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCTCTCTTGCGAAAGAAAGA	0.423																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2239-2241)tcG>tcA		dedicator of cytokinesis 4		C		0,3766		0,0,1883	53.0	55.0	54.0		2241	-11.9	0.0	7		54	1,8209		0,1,4104	no	coding-synonymous	DOCK4	NM_014705.3		0,1,5987	TT,TC,CC		0.0122,0.0,0.0084		747/1967	111508079	1,11975	1883	4105	5988	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111508079C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2241G>A	7.37:g.111508079C>T						DOCK4_ENST00000437633.1_Silent_p.S747S|DOCK4_ENST00000476846.1_5'UTR	p.S747S			Q8N1I0	DOCK4_HUMAN			22	2513	-		Acute lymphoblastic leukemia(1;0.0441)	747					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2241G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707583	0.15239	0.0	1.22E-4	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64228	-0.6457	4	.	.	.	.	6.0838	0.19956	0.2955:0.1037:0.5199:0.0809	.	.	.	.	H	199;735	.	.	R	-	2	0	DOCK4	111295315	0.000000	0.05858	0.007000	0.13788	0.970000	0.65996	-2.495000	0.00971	-5.305000	0.00017	-1.517000	0.00937	CGC		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		18	68	0	0	0	1	0	18	68				
KCTD12	115207	broad.mit.edu	37	13	77460047	77460047	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77460047G>A	ENST00000377474.2	-	1	478	c.237C>T	c.(235-237)cgC>cgT	p.R79R	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Silent_p.R79R	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	79					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CCAGAAAGAAGCGGCCTTTGC	0.672																																						ENST00000377474.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(235-237)cgC>cgT		potassium channel tetramerization domain containing 12							19.0	16.0	17.0					13																	77460047		2166	4237	6403	SO:0001819	synonymous_variant	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77460047G>A	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.237C>T	13.37:g.77460047G>A						KCTD12_ENST00000317765.2_Silent_p.R79R	p.R79R	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	1	478	-		Breast(118;0.212)	79						Silent	SNP	ENST00000377474.2	37	c.237C>T	CCDS9455.1																																																																																				0.672	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		23	99	0	0	0	1	0	23	99				
METTL2A	339175	broad.mit.edu	37	17	60503706	60503706	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60503706A>C	ENST00000311506.5	+	3	285	c.249A>C	c.(247-249)aaA>aaC	p.K83N		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	83					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACTTCTACAAAATCCACGAAA	0.338																																						ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(247-249)aaA>aaC		methyltransferase like 2A							22.0	18.0	19.0					17																	60503706		692	1578	2270	SO:0001583	missense	339175						methyltransferase activity	g.chr17:60503706A>C	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.249A>C	17.37:g.60503706A>C	ENSP00000309610:p.Lys83Asn						p.K83N	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		3	285	+			83					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	37	c.249A>C	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698488	0.30142	.	.	ENSG00000087995	ENST00000311506;ENST00000333483	T	0.03951	3.75	5.14	4.06	0.47325	.	0.134389	0.64402	D	0.000003	T	0.09024	0.0223	M	0.84433	2.695	0.31216	N	0.69804	B	0.14805	0.011	B	0.17722	0.019	T	0.03354	-1.1045	10	0.52906	T	0.07	-3.801	6.1331	0.20217	0.7528:0.1626:0.0846:0.0	.	83	Q96IZ6	MTL2A_HUMAN	N	83	ENSP00000309610:K83N	ENSP00000309610:K83N	K	+	3	2	METTL2A	57857438	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	1.612000	0.36889	0.909000	0.36697	0.454000	0.30748	AAA		0.338	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		49	199	0	0	0	1	0	49	199				
KRTAP20-2	337976	broad.mit.edu	37	21	32007688	32007688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32007688G>T	ENST00000330798.2	+	1	134	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	36						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGAGGCCTGGGCTGTGGCTA	0.547																																						ENST00000330798.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(106-108)Ggc>Tgc		keratin associated protein 20-2							203.0	160.0	175.0					21																	32007688		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007688G>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.106G>T	21.37:g.32007688G>T	ENSP00000330746:p.Gly36Cys						p.G36C	NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN			1	134	+			36						Missense_Mutation	SNP	ENST00000330798.2	37	c.106G>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931851	0.34096	.	.	ENSG00000184032	ENST00000330798	T	0.19938	2.11	4.63	4.63	0.57726	.	0.000000	0.32147	U	0.006504	T	0.44329	0.1288	.	.	.	0.21355	N	0.999715	D	0.89917	1.0	D	0.79108	0.992	T	0.24728	-1.0152	9	0.87932	D	0	.	13.2097	0.59817	0.0:0.0:1.0:0.0	.	36	Q3LI61	KR202_HUMAN	C	36	ENSP00000330746:G36C	ENSP00000330746:G36C	G	+	1	0	KRTAP20-2	30929559	0.001000	0.12720	0.402000	0.26371	0.263000	0.26337	0.820000	0.27323	2.593000	0.87608	0.650000	0.86243	GGC		0.547	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			23	614	1	0	5.26018e-13	1	5.6673e-13	23	614				
POGZ	23126	broad.mit.edu	37	1	151377824	151377824	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377824G>T	ENST00000271715.2	-	19	4001	c.3687C>A	c.(3685-3687)gaC>gaA	p.D1229E	POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000540984.1_Missense_Mutation_p.D591E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1229	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCGATGACAGTCCATCACAA	0.532																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3685-3687)gaC>gaA		pogo transposable element with ZNF domain							103.0	93.0	97.0					1																	151377824		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377824G>T	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3687C>A	1.37:g.151377824G>T	ENSP00000271715:p.Asp1229Glu					POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000540984.1_Missense_Mutation_p.D591E	p.D1229E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4001	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1229			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3687C>A	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332214	0.60853	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.72228	0.3434	M	0.66297	2.02	0.45005	D	0.998021	D;D;D;D;D;D	0.76494	0.999;0.999;0.996;0.996;0.99;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.987;0.987;0.98;0.997	T	0.74777	-0.3550	10	0.87932	D	0	-22.2533	13.2928	0.60280	0.0761:0.0:0.9239:0.0	.	1167;1220;1134;1185;1176;1229	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	E	1176;1229;1176;1134;1220;1167;591;1185	ENSP00000376484:D1176E;ENSP00000271715:D1229E;ENSP00000354467:D1176E;ENSP00000357856:D1134E;ENSP00000386836:D1220E;ENSP00000431259:D1167E;ENSP00000443547:D591E;ENSP00000418408:D1185E	ENSP00000271715:D1229E	D	-	3	2	POGZ	149644448	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.439000	0.52878	2.838000	0.97847	0.591000	0.81541	GAC		0.532	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		12	479	1	0	5.50884e-06	1	5.65664e-06	12	479				
REV3L	5980	broad.mit.edu	37	6	111621261	111621261	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111621261C>T	ENST00000358835.3	-	33	9805	c.9351G>A	c.(9349-9351)ttG>ttA	p.L3117L	REV3L_ENST00000368802.3_Silent_p.L3117L|REV3L_ENST00000368805.1_Silent_p.L3117L|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Silent_p.L3039L|RP5-1112D6.7_ENST00000607386.1_lincRNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3117					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGCCTTGGACAATTCTCTAT	0.393								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(9115-9117)ttG>ttA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							153.0	154.0	154.0					6																	111621261		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111621261C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9351G>A	6.37:g.111621261C>T						REV3L_ENST00000368805.1_Silent_p.L3117L|REV3L_ENST00000358835.3_Silent_p.L3117L|REV3L_ENST00000368802.3_Silent_p.L3117L|REV3L_ENST00000462119.1_5'UTR	p.L3039L			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	34	9933	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	3117					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.9117G>A	CCDS5091.2																																																																																				0.393	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		99	441	0	0	0	1	0	99	441				
NEURL4	84461	broad.mit.edu	37	17	7226812	7226812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7226812C>T	ENST00000399464.2	-	14	2424	c.2409G>A	c.(2407-2409)tgG>tgA	p.W803*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	803	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.W803F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCAGCATCCATGTGTCAT	0.572																																						ENST00000399464.2																			2	Substitution - Missense(2)	p.W803F(2)	lung(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2407-2409)tgG>tgA		neuralized E3 ubiquitin protein ligase 4							127.0	138.0	134.0					17																	7226812		2090	4216	6306	SO:0001587	stop_gained	84461							g.chr17:7226812C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2409G>A	17.37:g.7226812C>T	ENSP00000382390:p.Trp803*					NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*|NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*	p.W803*	NM_032442.2	NP_115818.2					14	2424	-								Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	37	c.2409G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	38	7.242072	0.98157	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6908	17.0257	0.86446	0.0:1.0:0.0:0.0	.	.	.	.	X	803	.	ENSP00000319826:W803X	W	-	3	0	NEURL4	7167536	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.167000	0.77562	2.571000	0.86741	0.563000	0.77884	TGG		0.572	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		40	170	0	0	0	1	0	40	170				
DCAF12L2	340578	broad.mit.edu	37	X	125299095	125299095	+	Silent	SNP	G	G	A	rs376171077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299095G>A	ENST00000360028.2	-	1	839	c.813C>T	c.(811-813)agC>agT	p.S271S	DCAF12L2_ENST00000538699.1_Silent_p.S271S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	271										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTTCTTGCCGCTGAAGGCCA	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(811-813)agC>agT		DDB1 and CUL4 associated factor 12-like 2		G		1,3834		0,1,1631,571	47.0	51.0	49.0		813	-3.0	0.4	X		49	0,6728		0,0,2428,1872	no	coding-synonymous	DCAF12L2	NM_001013628.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		271/464	125299095	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125299095G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.813C>T	X.37:g.125299095G>A						DCAF12L2_ENST00000360028.2_Silent_p.S271S	p.S271S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	893	-			271					B2RN42	Silent	SNP	ENST00000360028.2	37	c.813C>T	CCDS43991.1																																																																																				0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		83	289	0	0	0	1	0	83	289				
TFCP2	7024	broad.mit.edu	37	12	51493563	51493563	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51493563C>A	ENST00000257915.5	-	12	1610		c.e12-1		TFCP2_ENST00000307660.4_Splice_Site|TFCP2_ENST00000548115.1_Splice_Site|TFCP2_ENST00000549867.1_Splice_Site	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ACGCACCATCCTAAGGGGAGG	0.413																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.e11-1		transcription factor CP2							144.0	112.0	122.0					12																	51493563		2203	4300	6503	SO:0001630	splice_region_variant	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51493563C>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1152-1G>T	12.37:g.51493563C>A						TFCP2_ENST00000548115.1_Splice_Site|TFCP2_ENST00000257915.5_Splice_Site|TFCP2_ENST00000549867.1_Splice_Site		NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			11	1719	-								A8K5E9|Q12801|Q9UD75|Q9UD77	Splice_Site	SNP	ENST00000257915.5	37		CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287250	0.80803	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4858	0.90828	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFCP2	49779830	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.203000	0.77864	2.843000	0.97960	0.585000	0.79938	.		0.413	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	Intron	57	260	1	0	8.44121e-28	1	9.79253e-28	57	260				
KLHL32	114792	broad.mit.edu	37	6	97578726	97578726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97578726G>A	ENST00000369261.4	+	9	1870	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N|KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N|KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	503										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGAGGCAATGACCTAGACTA	0.453																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1507-1509)Gac>Aac		kelch-like family member 32							160.0	143.0	149.0					6																	97578726		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97578726G>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1507G>A	6.37:g.97578726G>A	ENSP00000358265:p.Asp503Asn					KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N|KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N|KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N	p.D503N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	9	1870	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	503					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.1507G>A	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106944	0.77096	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.96	4.96	0.65561	Kelch-type beta propeller (1);	0.049990	0.85682	N	0.000000	T	0.68988	0.3061	L	0.37750	1.13	0.80722	D	1	B;B;B;P	0.42620	0.001;0.22;0.0;0.785	B;B;B;P	0.44946	0.008;0.19;0.012;0.465	T	0.74200	-0.3742	10	0.59425	D	0.04	.	18.4056	0.90535	0.0:0.0:1.0:0.0	.	434;467;503;59	B7Z4E2;B7Z346;Q96NJ5;Q8IXH0	.;.;KLH32_HUMAN;.	N	503;467;59;434	ENSP00000358265:D503N;ENSP00000440382:D467N;ENSP00000445453:D59N;ENSP00000441527:D434N	ENSP00000358265:D503N	D	+	1	0	KLHL32	97685447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.238000	0.95380	2.576000	0.86940	0.609000	0.83330	GAC		0.453	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		49	521	0	0	0	1	0	49	521				
PRAMEF12	390999	broad.mit.edu	37	1	12837595	12837595	+	Silent	SNP	G	G	A	rs374628181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837595G>A	ENST00000357726.4	+	3	1332	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	435					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGCTGAGCTGATGAAGA	0.562																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1303-1305)gaG>gaA		PRAME family member 12							122.0	125.0	124.0					1																	12837595		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837595G>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1305G>A	1.37:g.12837595G>A							p.E435E	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1332	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	435						Silent	SNP	ENST00000357726.4	37	c.1305G>A	CCDS41254.1																																																																																				0.562	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		60	604	0	0	0	1	0	60	604				
DDX54	79039	broad.mit.edu	37	12	113599090	113599090	+	Nonsense_Mutation	SNP	G	G	A	rs200245814		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113599090G>A	ENST00000306014.5	-	19	2425	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	DDX54_ENST00000314045.7_Nonsense_Mutation_p.R800*|DDX54_ENST00000549271.1_5'UTR	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	800					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCACGGTCTCGCTTCCCACCT	0.572																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2398-2400)Cga>Tga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							194.0	140.0	158.0					12																	113599090		2203	4300	6503	SO:0001587	stop_gained	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599090G>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2398C>T	12.37:g.113599090G>A	ENSP00000304072:p.Arg800*					DDX54_ENST00000306014.5_Nonsense_Mutation_p.R800*|DDX54_ENST00000549271.1_5'UTR	p.R800*	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			19	2425	-			800					Q86YT8|Q9BRZ1	Nonsense_Mutation	SNP	ENST00000306014.5	37	c.2398C>T	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	37	6.605751	0.97701	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	.	.	.	4.79	-0.117	0.13551	.	0.233607	0.35291	N	0.003304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7572	0.08589	0.0886:0.1214:0.4372:0.3529	.	.	.	.	X	800	.	ENSP00000304072:R800X	R	-	1	2	DDX54	112083473	0.000000	0.05858	0.990000	0.47175	0.597000	0.36814	0.426000	0.21363	0.395000	0.25257	0.491000	0.48974	CGA		0.572	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		66	296	0	0	0	1	0	66	296				
PLEC	5339	broad.mit.edu	37	8	144991599	144991599	+	Silent	SNP	C	C	T	rs200575172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991599C>T	ENST00000322810.4	-	32	12970	c.12801G>A	c.(12799-12801)acG>acA	p.T4267T	PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000398774.2_Silent_p.T4098T|PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000357649.2_Silent_p.T4134T|PLEC_ENST00000436759.2_Silent_p.T4157T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000354958.2_Silent_p.T4108T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4267	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTTGGAGGACGTCTTCCGCT	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		19392	0.0		0.0	False		,,,				2504	0.001					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12799-12801)acG>acA		plectin							60.0	66.0	64.0					8																	144991599		2104	4217	6321	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991599C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12801G>A	8.37:g.144991599C>T						PLEC_ENST00000357649.2_Silent_p.T4134T|PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000398774.2_Silent_p.T4098T|PLEC_ENST00000354958.2_Silent_p.T4108T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000436759.2_Silent_p.T4157T	p.T4267T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12970	-			4267			Binding to intermediate filaments (By similarity).|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12801G>A	CCDS43772.1																																																																																				0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		24	351	0	0	0	1	0	24	351				
PPP1R26	9858	broad.mit.edu	37	9	138377010	138377010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138377010C>T	ENST00000356818.2	+	4	1203	c.654C>T	c.(652-654)agC>agT	p.S218S	PPP1R26_ENST00000401470.3_Silent_p.S218S|PPP1R26_ENST00000605660.1_Silent_p.S218S|PPP1R26_ENST00000604351.1_Silent_p.S218S|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.S218S	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	218					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GTGTGAGCAGCGATGACTCCT	0.562																																						ENST00000356818.2																			0											c.(652-654)agC>agT		protein phosphatase 1, regulatory subunit 26							62.0	71.0	68.0					9																	138377010		2203	4299	6502	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138377010C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.654C>T	9.37:g.138377010C>T						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.S218S|PPP1R26_ENST00000605286.1_Silent_p.S218S|PPP1R26_ENST00000604351.1_Silent_p.S218S|PPP1R26_ENST00000401470.3_Silent_p.S218S	p.S218S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1203	+			218					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.654C>T	CCDS6988.1																																																																																				0.562	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		100	546	0	0	0	1	0	100	546				
PAX2	5076	broad.mit.edu	37	10	102509561	102509561	+	Silent	SNP	C	C	T	rs201381234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509561C>T	ENST00000428433.1	+	2	652	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PAX2_ENST00000361791.3_Silent_p.P34P|PAX2_ENST00000370296.2_Silent_p.P34P|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Silent_p.P33P|PAX2_ENST00000355243.3_Silent_p.P34P	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	34	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGCCCCTACCCGACGTGGTGA	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15680	0.0		0.0	False		,,,				2504	0.0					ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(100-102)ccC>ccT		paired box 2							29.0	34.0	32.0					10																	102509561		2197	4296	6493	SO:0001819	synonymous_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509561C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.102C>T	10.37:g.102509561C>T						PAX2_ENST00000355243.3_Silent_p.P34P|PAX2_ENST00000556085.1_Silent_p.P33P|PAX2_ENST00000361791.3_Silent_p.P34P|PAX2_ENST00000428433.1_Silent_p.P34P|PAX2_ENST00000553492.1_Intron	p.P34P			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	652	+		Colorectal(252;0.234)	34			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	c.102C>T	CCDS53569.1																																																																																				0.647	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				64	304	0	0	0	1	0	64	304				
ANKRD20A8P	729171	broad.mit.edu	37	2	95481117	95481117	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95481117C>A	ENST00000432432.2	-	0	2243					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TGATACATCTCTTTCATTTCC	0.388																																						ENST00000432432.2																			0																																																			0							g.chr2:95481117C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95481117C>A								NR_040113.1						0	2243	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.388	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			108	547	1	0	5.87034e-48	1	7.23613e-48	108	547				
CACNB2	783	broad.mit.edu	37	10	18807857	18807857	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18807857A>C	ENST00000324631.7	+	9	964	c.904A>C	c.(904-906)Aaa>Caa	p.K302Q	CACNB2_ENST00000396576.2_Missense_Mutation_p.K247Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	302					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TATGATGCAAAAAGCGCTGTT	0.338																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(739-741)Aaa>Caa		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						150.0	150.0	150.0					10																	18807857		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18807857A>C	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.904A>C	10.37:g.18807857A>C	ENSP00000320025:p.Lys302Gln					CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.K302Q|CACNB2_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q	p.K247Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			8	1240	+			302					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.739A>C	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694579	0.88830	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.3	5.3	0.74995	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999;0.999;1.0;0.998;0.999;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.996;0.999;0.995;0.999;0.991;0.999;0.998;0.991;0.998;0.999	D	0.94080	0.7343	10	0.87932	D	0	-22.4243	14.3496	0.66691	1.0:0.0:0.0:0.0	.	216;216;248;274;254;224;248;258;209;250;274;264;278;302	B7Z1U5;B7Z2U3;Q5QJ99;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Q	302;278;274;250;247;209;248;254	ENSP00000320025:K302Q;ENSP00000344474:K278Q;ENSP00000282343:K274Q;ENSP00000366548:K250Q;ENSP00000379821:K247Q;ENSP00000366536:K209Q;ENSP00000366546:K248Q;ENSP00000366532:K254Q	ENSP00000282343:K274Q	K	+	1	0	CACNB2	18847863	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.838000	0.92115	2.137000	0.66172	0.528000	0.53228	AAA		0.338	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		107	509	0	0	0	1	0	107	509				
MYH10	4628	broad.mit.edu	37	17	8380302	8380302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8380302G>A	ENST00000269243.4	-	40	5816	c.5678C>T	c.(5677-5679)gCg>gTg	p.A1893V	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|MYH10_ENST00000360416.3_Missense_Mutation_p.A1924V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1893					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGCACGCGTCGCTTCTTCTTC	0.572																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5770-5772)gCg>gTg		myosin, heavy chain 10, non-muscle							84.0	72.0	76.0					17																	8380302		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8380302G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5678C>T	17.37:g.8380302G>A	ENSP00000269243:p.Ala1893Val					MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|MYH10_ENST00000269243.4_Missense_Mutation_p.A1893V|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|NDEL1_ENST00000299734.7_Intron	p.A1924V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			42	5909	-			1893					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5771C>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685413	0.68157	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.95	4.95	0.65309	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.49778	1.585	0.80722	D	1	B;B;B	0.27791	0.189;0.157;0.189	B;B;B	0.31245	0.126;0.077;0.126	T	0.75923	-0.3146	10	0.66056	D	0.02	.	18.3181	0.90227	0.0:0.0:1.0:0.0	.	1902;1924;1893	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1893;1924;1914;1909	ENSP00000269243:A1893V;ENSP00000353590:A1924V;ENSP00000379539:A1914V;ENSP00000369315:A1909V	ENSP00000269243:A1893V	A	-	2	0	MYH10	8321027	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	7.746000	0.85057	2.712000	0.92718	0.655000	0.94253	GCG		0.572	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			62	242	0	0	0	1	0	62	242				
PSMA2	5683	broad.mit.edu	37	7	42957219	42957219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42957219C>A	ENST00000223321.4	-	8	723	c.659G>T	c.(658-660)aGg>aTg	p.R220M	PSMA2_ENST00000442788.1_Missense_Mutation_p.R220M|PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						TGGAGTAAGCCTCCTAAATCC	0.378																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(658-660)aGg>aTg		proteasome (prosome, macropain) subunit, alpha type, 2							100.0	84.0	90.0					7																	42957219		2203	4300	6503	SO:0001583	missense	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42957219C>A	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.659G>T	7.37:g.42957219C>A	ENSP00000223321:p.Arg220Met					PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M|PSMA2_ENST00000223321.4_Missense_Mutation_p.R220M	p.R220M			P25787	PSA2_HUMAN			8	674	-			220					Q6ICS6|Q9BU45	Missense_Mutation	SNP	ENST00000223321.4	37	c.659G>T	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886810	0.72410	.	.	ENSG00000106588	ENST00000223321;ENST00000445517	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.69248	2.105	0.80722	D	1	B	0.24368	0.102	B	0.32289	0.143	T	0.42172	-0.9467	10	0.39692	T	0.17	.	19.8546	0.96752	0.0:1.0:0.0:0.0	.	220	P25787	PSA2_HUMAN	M	220;150	ENSP00000223321:R220M;ENSP00000404858:R150M	ENSP00000223321:R220M	R	-	2	0	PSMA2	42923744	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	AGG		0.378	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		55	192	1	0	7.47603e-22	1	8.43918e-22	55	192				
RBM22	55696	broad.mit.edu	37	5	150076139	150076139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150076139G>A	ENST00000199814.4	-	6	622	c.501C>T	c.(499-501)ttC>ttT	p.F167F	RBM22_ENST00000447771.2_Silent_p.F118F|RBM22_ENST00000540000.1_Silent_p.F118F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	167					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCACCCAGAAGGAGCAAA	0.483																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(499-501)ttC>ttT		RNA binding motif protein 22							131.0	125.0	127.0					5																	150076139		2203	4300	6503	SO:0001819	synonymous_variant	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150076139G>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.501C>T	5.37:g.150076139G>A						RBM22_ENST00000447771.2_Silent_p.F118F|RBM22_ENST00000540000.1_Silent_p.F118F	p.F167F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	622	-		Medulloblastoma(196;0.167)	167					A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	37	c.501C>T	CCDS34278.1																																																																																				0.483	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		50	567	0	0	0	1	0	50	567				
FZD10	11211	broad.mit.edu	37	12	130648444	130648444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130648444C>T	ENST00000229030.4	+	1	1441	c.957C>T	c.(955-957)ttC>ttT	p.F319F	FZD10_ENST00000539839.1_Missense_Mutation_p.R287W|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	319					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F319F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCTACTACTTCGGCATGGCCA	0.647																																						ENST00000539839.1																			1	Substitution - coding silent(1)	p.F319F(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(859-861)Cgg>Tgg		frizzled family receptor 10							61.0	56.0	58.0					12																	130648444		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648444C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.957C>T	12.37:g.130648444C>T						FZD10_ENST00000229030.4_Silent_p.F319F	p.R287W	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1441	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.859C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081154	0.20309	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	0.604	0.17547	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65084	-0.6254	5	0.87932	D	0	.	9.8296	0.40932	0.0:0.53:0.0:0.47	.	.	.	.	W	287	.	ENSP00000438460:R287W	R	+	1	2	FZD10	129214397	0.978000	0.34361	1.000000	0.80357	0.984000	0.73092	0.155000	0.16362	0.187000	0.20147	-0.254000	0.11334	CGG		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	328	0	0	0	1	0	14	328				
DRGX	644168	broad.mit.edu	37	10	50574348	50574348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50574348C>T	ENST00000374139.2	-	6	615	c.605G>A	c.(604-606)cGc>cAc	p.R202H	DRGX_ENST00000434016.1_Missense_Mutation_p.R207H			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	202					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTGGCCGTGCGGTTACTCTG	0.637																																						ENST00000374139.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						c.(604-606)cGc>cAc		dorsal root ganglia homeobox							46.0	55.0	52.0					10																	50574348		2113	4216	6329	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50574348C>T		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.605G>A	10.37:g.50574348C>T	ENSP00000363254:p.Arg202His					DRGX_ENST00000434016.1_Missense_Mutation_p.R207H	p.R202H			C9JW76	C9JW76_HUMAN			6	615	-			207						Missense_Mutation	SNP	ENST00000374139.2	37	c.605G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.366093	0.95900	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.96554	-4.05;-4.05	5.54	5.54	0.83059	.	0.107337	0.64402	D	0.000003	D	0.96725	0.8931	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97860	1.0280	10	0.87932	D	0	.	19.4819	0.95013	0.0:1.0:0.0:0.0	.	207	C9JW76	.	H	202;207	ENSP00000363254:R202H;ENSP00000401653:R207H	ENSP00000363254:R202H	R	-	2	0	DRGX	50244354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.746000	0.68681	2.595000	0.87683	0.655000	0.94253	CGC		0.637	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		103	354	0	0	0	1	0	103	354				
KIAA0895L	653319	broad.mit.edu	37	16	67214084	67214084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214084G>A	ENST00000290881.7	-	3	1356	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W			Q68EN5	K895L_HUMAN	KIAA0895-like	144										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTGGTTGGCCGCAGGGCCACC	0.587																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(430-432)Cgg>Tgg		KIAA0895-like							92.0	98.0	96.0					16																	67214084		1979	4158	6137	SO:0001583	missense	653319							g.chr16:67214084G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.430C>T	16.37:g.67214084G>A	ENSP00000290881:p.Arg144Trp					KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W	p.R144W			Q68EN5	K895L_HUMAN			3	1356	-			144					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.430C>T	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581171	0.65992	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.58101	1.795	0.48288	D	0.99962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72551	-0.4259	9	0.87932	D	0	-22.2723	11.5454	0.50690	0.0:0.0:0.6661:0.3339	.	144;144	Q68EN5-2;Q68EN5	.;K895L_HUMAN	W	144	.	ENSP00000290881:R144W	R	-	1	2	KIAA0895L	65771585	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	0.174000	0.16743	1.245000	0.43885	0.555000	0.69702	CGG		0.587	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		32	391	0	0	0	1	0	32	391				
ITGB4	3691	broad.mit.edu	37	17	73727036	73727036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73727036G>T	ENST00000200181.3	+	9	1270	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D|ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	361					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGGAGGAGGCCTTCAATG	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1081-1083)gaG>gaT		integrin, beta 4							81.0	82.0	82.0					17																	73727036		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73727036G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1083G>T	17.37:g.73727036G>T	ENSP00000200181:p.Glu361Asp					ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D|ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D	p.E361D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		9	1270	+	all_cancers(13;1.5e-07)		361					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1083G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861215	0.32884	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97553	-4.43;-4.43;-4.43	5.42	-3.46	0.04767	Integrin beta subunit, N-terminal (2);	0.679936	0.14303	N	0.328121	D	0.92789	0.7707	N	0.22421	0.69	0.23859	N	0.996646	B;P;P;D	0.55800	0.097;0.929;0.942;0.973	B;B;P;P	0.53401	0.099;0.399;0.634;0.725	D	0.87441	0.2395	10	0.24483	T	0.36	.	3.4322	0.07433	0.3887:0.0992:0.411:0.101	.	361;361;361;361	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	D	277;361;361;361	ENSP00000200181:E361D;ENSP00000344079:E361D;ENSP00000400217:E361D	ENSP00000200181:E361D	E	+	3	2	ITGB4	71238631	0.062000	0.20869	0.993000	0.49108	0.945000	0.59286	-0.468000	0.06656	-0.199000	0.10317	0.557000	0.71058	GAG		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			106	444	1	0	2.54621e-43	1	3.10758e-43	106	444				
ALLC	55821	broad.mit.edu	37	2	3745013	3745013	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3745013A>C	ENST00000252505.3	+	10	979	c.817A>C	c.(817-819)Act>Cct	p.T273P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	292					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGGAGTAATAACTCGAATTGA	0.368										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(817-819)Act>Cct		allantoicase							142.0	138.0	139.0					2																	3745013		1843	4092	5935	SO:0001583	missense	55821						allantoicase activity	g.chr2:3745013A>C	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.817A>C	2.37:g.3745013A>C	ENSP00000252505:p.Thr273Pro	HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.T273P	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	10	979	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	292					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.817A>C	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683681	0.29872	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.6	4.46	0.54185	Allantoicase domain (1);Galactose-binding domain-like (1);	0.292757	0.41001	D	0.000968	T	0.70159	0.3192	M	0.80746	2.51	0.39878	D	0.973603	D	0.58970	0.984	P	0.57846	0.828	T	0.72890	-0.4155	9	0.52906	T	0.07	-29.0378	9.3331	0.38034	0.9157:0.0:0.0843:0.0	.	292	Q8N6M5	ALLC_HUMAN	P	273	.	ENSP00000252505:T273P	T	+	1	0	ALLC	3722888	1.000000	0.71417	0.417000	0.26559	0.085000	0.17905	6.896000	0.75665	0.972000	0.38314	0.533000	0.62120	ACT		0.368	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			64	425	0	0	0	1	0	64	425				
POM121	9883	broad.mit.edu	37	7	72413671	72413671	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413671T>G	ENST00000434423.2	+	11	3139	c.3139T>G	c.(3139-3141)Ttc>Gtc	p.F1047V	POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000395270.1_Missense_Mutation_p.F782V|POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000257622.4_Missense_Mutation_p.F782V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1047	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCTTCGGCCTTCGGCGCTCC	0.647																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2344-2346)Ttc>Gtc		POM121 transmembrane nucleoporin							40.0	41.0	40.0					7																	72413671		2203	4296	6499	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413671T>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3139T>G	7.37:g.72413671T>G	ENSP00000405562:p.Phe1047Val					POM121_ENST00000257622.4_Missense_Mutation_p.F782V|POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000434423.2_Missense_Mutation_p.F1047V	p.F782V	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3385	+		Lung NSC(55;0.163)	1047			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2344T>G		.	.	.	.	.	.	.	.	.	.	T	10.83	1.461648	0.26248	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09163	3.01;3.13;3.01;3.13;3.37	2.87	2.87	0.33458	.	0.000000	0.40728	N	0.001028	T	0.24122	0.0584	M	0.77820	2.39	0.09310	N	1	D;D	0.61697	0.986;0.99	P;D	0.63192	0.797;0.912	T	0.08411	-1.0723	10	0.15952	T	0.53	.	8.67	0.34145	0.0:0.0:0.0:1.0	.	782;1047	A8MXF9;Q96HA1	.;P121A_HUMAN	V	782;782;782;782;1047	ENSP00000393020:F782V;ENSP00000257622:F782V;ENSP00000378687:F782V;ENSP00000351124:F782V;ENSP00000405562:F1047V	ENSP00000257622:F782V	F	+	1	0	POM121	72051607	1.000000	0.71417	0.030000	0.17652	0.090000	0.18270	5.284000	0.65627	1.316000	0.45131	0.145000	0.16022	TTC		0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			63	392	0	0	0	1	0	63	392				
OLFML2A	169611	broad.mit.edu	37	9	127572610	127572610	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572610C>T	ENST00000373580.3	+	8	1878	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	OLFML2A_ENST00000288815.5_Silent_p.I412I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	626	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACCCAGATCGACTACAACC	0.642																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1876-1878)atC>atT		olfactomedin-like 2A							146.0	117.0	127.0					9																	127572610		2203	4300	6503	SO:0001819	synonymous_variant	169611							g.chr9:127572610C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1878C>T	9.37:g.127572610C>T						OLFML2A_ENST00000288815.5_Silent_p.I412I	p.I626I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1878	+			626			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	c.1878C>T	CCDS6857.2																																																																																				0.642	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		54	301	0	0	0	1	0	54	301				
LGR5	8549	broad.mit.edu	37	12	71834062	71834062	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71834062A>G	ENST00000266674.5	+	1	513	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.T68A|LGR5_ENST00000540815.2_Missense_Mutation_p.T68A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	68					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGCGTCTTCACCTCCTACCT	0.632																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(202-204)Acc>Gcc		leucine-rich repeat containing G protein-coupled receptor 5							67.0	62.0	64.0					12																	71834062		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71834062A>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.202A>G	12.37:g.71834062A>G	ENSP00000266674:p.Thr68Ala					LGR5_ENST00000540815.2_Missense_Mutation_p.T68A|TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.T68A	p.T68A			O75473	LGR5_HUMAN			1	513	+			68					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.202A>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574483	0.86542	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;D;T	0.90069	3.59;-2.61;4.26	4.79	4.79	0.61399	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.56097	D	0.000035	D	0.86777	0.6014	L	0.28776	0.89	0.41768	D	0.98975	P;P	0.45078	0.802;0.85	P;P	0.49332	0.607;0.507	D	0.86747	0.1958	10	0.39692	T	0.17	.	14.1361	0.65289	1.0:0.0:0.0:0.0	.	68;68	O75473-2;O75473	.;LGR5_HUMAN	A	68	ENSP00000266674:T68A;ENSP00000443033:T68A;ENSP00000441035:T68A	ENSP00000266674:T68A	T	+	1	0	LGR5	70120329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.387000	0.79785	2.007000	0.58848	0.402000	0.26972	ACC		0.632	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		10	293	0	0	0	1	0	10	293				
TCERG1	10915	broad.mit.edu	37	5	145838663	145838663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838663G>A	ENST00000296702.5	+	4	693	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	219	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ccaggcccaggcccaggccca	0.726																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(655-657)Gcc>Acc		transcription elongation regulator 1							11.0	15.0	14.0					5																	145838663		2194	4281	6475	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838663G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.655G>A	5.37:g.145838663G>A	ENSP00000296702:p.Ala219Thr					TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	p.A219T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	693	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	219			Ala/Gln-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.655G>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	1.840	-0.467777	0.04476	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35605	1.3;1.3	3.14	3.14	0.36123	.	0.000000	0.48767	D	0.000167	T	0.20577	0.0495	N	0.19112	0.55	0.26706	N	0.971071	B;B;B	0.21225	0.053;0.007;0.004	B;B;B	0.10450	0.005;0.002;0.001	T	0.12708	-1.0537	10	0.11794	T	0.64	-1.3402	12.081	0.53671	0.0:0.0:1.0:0.0	.	219;219;219	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	T	219	ENSP00000296702:A219T;ENSP00000377943:A219T	ENSP00000296702:A219T	A	+	1	0	TCERG1	145818856	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	2.966000	0.49208	1.721000	0.51461	0.462000	0.41574	GCC		0.726	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		49	225	0	0	0	1	0	49	225				
OR2W5	441932	broad.mit.edu	37	1	247654924	247654924	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654924G>T	ENST00000522351.1	+	0	555							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGACGATGCAGCTCTCCCGGT	0.557																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															122.0	100.0	107.0					1																	247654924		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654924G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654924G>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	555	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.557	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		111	429	1	0	5.97918e-35	1	7.12646e-35	111	429				
NT5DC2	64943	broad.mit.edu	37	3	52568642	52568642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52568642C>A	ENST00000307076.4	-	1	428	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	NT5DC2_ENST00000307092.4_5'Flank|NT5DC2_ENST00000490681.1_5'Flank|SMIM4_ENST00000307106.3_5'Flank|NT5DC2_ENST00000422318.2_5'Flank|SMIM4_ENST00000476842.1_5'Flank|SMIM4_ENST00000482728.1_3'UTR|NT5DC2_ENST00000459839.1_5'Flank|SMIM4_ENST00000477703.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	10							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATTCCTCTTTCCTGCGCAGAA	0.592																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(28-30)Gaa>Taa		5'-nucleotidase domain containing 2							155.0	157.0	156.0					3																	52568642		2203	4300	6503	SO:0001587	stop_gained	64943						hydrolase activity|metal ion binding	g.chr3:52568642C>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.28G>T	3.37:g.52568642C>A	ENSP00000302468:p.Glu10*					SMIM4_ENST00000482728.1_3'UTR	p.E10*	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	1	428	-			10					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Nonsense_Mutation	SNP	ENST00000307076.4	37	c.28G>T	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477394	0.84640	.	.	ENSG00000168268	ENST00000307076	.	.	.	3.04	-1.54	0.08584	.	6.254030	0.01781	U	0.031789	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.7943	0.23717	0.0:0.3955:0.0:0.6045	.	.	.	.	X	10	.	ENSP00000302468:E10X	E	-	1	0	NT5DC2	52543682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.461000	0.02366	-0.387000	0.07809	-0.253000	0.11424	GAA		0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		219	820	1	0	2.48479e-74	1	3.1658e-74	219	820				
CDK10	8558	broad.mit.edu	37	16	89759861	89759861	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89759861G>T	ENST00000353379.7	+	8	637	c.594G>T	c.(592-594)aaG>aaT	p.K198N	CDK10_ENST00000505473.1_Missense_Mutation_p.K127N|CDK10_ENST00000331006.8_Missense_Mutation_p.K151N	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.K198N(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGACCCCCAAGGTGGTCACTC	0.607																																						ENST00000331006.8																			1	Substitution - Missense(1)	p.K198N(1)	endometrium(1)	ovary(1)	1						c.(451-453)aaG>aaT		cyclin-dependent kinase 10							69.0	64.0	65.0					16																	89759861		2198	4300	6498	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89759861G>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.594G>T	16.37:g.89759861G>T	ENSP00000338673:p.Lys198Asn					CDK10_ENST00000353379.7_Missense_Mutation_p.K198N|CDK10_ENST00000505473.1_Missense_Mutation_p.K127N	p.K151N			Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	7	2194	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	198			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.453G>T	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942347	0.18281	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.42900	0.96;0.96;0.96	4.97	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162260	0.52532	D	0.000066	T	0.18045	0.0433	N	0.05199	-0.095	0.49389	D	0.99978	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.004	T	0.05451	-1.0884	10	0.17832	T	0.49	-38.7351	6.7509	0.23487	0.3406:0.0:0.6594:0.0	.	198;127;127	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	N	151;169;127;198	ENSP00000329957:K151N;ENSP00000424415:K127N;ENSP00000338673:K198N	ENSP00000329957:K151N	K	+	3	2	CDK10	88287362	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.674000	0.46867	1.325000	0.45301	0.655000	0.94253	AAG		0.607	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			104	233	1	0	2.34548e-53	1	2.9228e-53	104	233				
C11orf54	28970	broad.mit.edu	37	11	93487188	93487188	+	Silent	SNP	C	C	T	rs147973802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93487188C>T	ENST00000331239.4	+	5	494	c.315C>T	c.(313-315)ctC>ctT	p.L105L	C11orf54_ENST00000540113.1_Silent_p.L86L|C11orf54_ENST00000528099.1_Silent_p.L105L|C11orf54_ENST00000528288.1_Silent_p.L105L|C11orf54_ENST00000354421.3_Silent_p.L105L			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	105					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGACTCTCGGGTTCAATT	0.353																																						ENST00000528288.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(313-315)ctC>ctT		chromosome 11 open reading frame 54							83.0	94.0	90.0					11																	93487188		2195	4297	6492	SO:0001819	synonymous_variant	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93487188C>T	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.315C>T	11.37:g.93487188C>T						C11orf54_ENST00000528099.1_Silent_p.L105L|C11orf54_ENST00000540113.1_Silent_p.L86L|C11orf54_ENST00000354421.3_Silent_p.L105L|C11orf54_ENST00000331239.4_Silent_p.L105L	p.L105L	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			5	550	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	105					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Silent	SNP	ENST00000331239.4	37	c.315C>T																																																																																					0.353	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		108	532	0	0	0	1	0	108	532				
ARHGEF11	9826	broad.mit.edu	37	1	156906623	156906623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156906623G>A	ENST00000361409.2	-	39	5237	c.4495C>T	c.(4495-4497)Ccc>Tcc	p.P1499S	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P915S|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.P1539S	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1499					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGGGCAGGGCCCCAGTTCA	0.572																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(4615-4617)Ccc>Tcc		Rho guanine nucleotide exchange factor (GEF) 11							104.0	102.0	103.0					1																	156906623		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156906623G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4495C>T	1.37:g.156906623G>A	ENSP00000354644:p.Pro1499Ser					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P1499S|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P915S|ARHGEF11_ENST00000487682.1_5'UTR	p.P1539S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			40	5654	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1499					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.4615C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	7.840	0.721709	0.15372	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.62941	-0.0;-0.01;0.08	4.72	-0.133	0.13485	.	0.607811	0.14696	N	0.303875	T	0.12263	0.0298	N	0.11560	0.145	0.09310	N	1	B;B;B	0.13145	0.007;0.004;0.007	B;B;B	0.09377	0.004;0.001;0.003	T	0.23797	-1.0178	10	0.17832	T	0.49	-1.6719	1.3528	0.02176	0.1244:0.1801:0.3282:0.3674	.	915;1499;1539	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	S	1539;1499;915	ENSP00000357177:P1539S;ENSP00000354644:P1499S;ENSP00000313470:P915S	ENSP00000313470:P915S	P	-	1	0	ARHGEF11	155173247	0.003000	0.15002	0.096000	0.21009	0.982000	0.71751	0.495000	0.22483	-0.211000	0.10124	-0.305000	0.09177	CCC		0.572	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		11	704	0	0	0	1	0	11	704				
ECSCR	641700	broad.mit.edu	37	5	138837382	138837382	+	Silent	SNP	G	G	A	rs147720581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138837382G>A	ENST00000515823.1	-	3	189	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	39					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GACTTAGACCGCCAAGGCCTC	0.557													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17859	0.001		0.0	False		,,,				2504	0.0					ENST00000515823.1																			0											c.(115-117)ggC>ggT		endothelial cell surface expressed chemotaxis and apoptosis regulator		G		0,4100		0,0,2050	51.0	61.0	58.0		117	2.8	0.0	5	dbSNP_134	58	1,8373		0,1,4186	no	coding-synonymous	ECSCR	NM_001077693.2		0,1,6236	AA,AG,GG		0.0119,0.0,0.0080		39/206	138837382	1,12473	2050	4187	6237	SO:0001819	synonymous_variant	641700				angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane		g.chr5:138837382G>A	DQ462572	CCDS75317.1	5q31.2	2012-03-21	2012-03-21			ENSG00000249751			35454	protein-coding gene	gene with protein product	"""endothelial cell-specific molecule 2"", ""apoptosis regulator through modulating IAP expression"""	615736	"""endothelial cell-specific chemotaxis regulator"""			18556573	Standard	NM_001077693		Approved	ECSM2, ARIA	uc011cze.1	Q19T08		ENST00000515823.1:c.117C>T	5.37:g.138837382G>A							p.G39G	NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN			3	189	-			39					B4E3H7|C3RSF2	Silent	SNP	ENST00000515823.1	37	c.117C>T																																																																																					0.557	ECSCR-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372342.1	NM_001077693		14	65	0	0	0	1	0	14	65				
SERPINA9	327657	broad.mit.edu	37	14	94935809	94935809	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94935809A>G	ENST00000380365.3	-	2	447	c.369T>C	c.(367-369)gtT>gtC	p.V123V	SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Silent_p.V43V|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Silent_p.V105V|SERPINA9_ENST00000337425.5_Silent_p.V141V			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	123					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTTTGCTGGGAACAGTCAGTG	0.547																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(421-423)gtT>gtC		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							126.0	127.0	126.0					14																	94935809		2068	4222	6290	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935809A>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.369T>C	14.37:g.94935809A>G						SERPINA9_ENST00000380365.3_Silent_p.V123V|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Silent_p.V105V|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_Silent_p.V43V	p.V141V	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	497	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	123					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.423T>C																																																																																					0.547	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		15	708	0	0	0	1	0	15	708				
LRRC8C	84230	broad.mit.edu	37	1	90179146	90179146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90179146C>A	ENST00000370454.4	+	3	1272	c.1017C>A	c.(1015-1017)taC>taA	p.Y339*	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	339					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATACCTTATACTGGCTGTTCT	0.388																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1015-1017)taC>taA		leucine rich repeat containing 8 family, member C							85.0	71.0	76.0					1																	90179146		2203	4300	6503	SO:0001587	stop_gained	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179146C>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1017C>A	1.37:g.90179146C>A	ENSP00000359483:p.Tyr339*					LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.Y339*	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1272	+		all_lung(203;0.126)	339					B3KXS9|Q29RV6|Q9H075	Nonsense_Mutation	SNP	ENST00000370454.4	37	c.1017C>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504666	0.96371	.	.	ENSG00000171488	ENST00000370454	.	.	.	5.86	1.92	0.25849	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1756	0.37109	0.0:0.6042:0.0:0.3958	.	.	.	.	X	339	.	ENSP00000359483:Y339X	Y	+	3	2	LRRC8C	89951734	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	0.261000	0.18442	0.821000	0.34540	0.650000	0.86243	TAC		0.388	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		29	313	1	0	1.17739e-12	1	1.26592e-12	29	313				
ACTN2	88	broad.mit.edu	37	1	236914912	236914912	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236914912G>A	ENST00000366578.4	+	15	1965	c.1799G>A	c.(1798-1800)aGc>aAc	p.S600N	ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N|ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	600					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AACCCGTACAGCACTGTCACC	0.582																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1798-1800)aGc>aAc		actinin, alpha 2							113.0	95.0	101.0					1																	236914912		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236914912G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1799G>A	1.37:g.236914912G>A	ENSP00000355537:p.Ser600Asn					ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N|ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N	p.S600N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		15	1965	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	600					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1799G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255226	0.80135	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.50001	0.76;0.76;0.76	4.89	4.89	0.63831	.	0.250491	0.52532	D	0.000075	T	0.65873	0.2733	L	0.54323	1.7	0.58432	D	0.999996	B;B;B;P	0.45531	0.074;0.127;0.217;0.86	B;B;B;D	0.67382	0.31;0.386;0.405;0.951	T	0.68652	-0.5352	10	0.87932	D	0	.	18.0397	0.89315	0.0:0.0:1.0:0.0	.	385;600;370;600	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	600;600;94;369	ENSP00000443495:S600N;ENSP00000355537:S600N;ENSP00000438384:S94N	ENSP00000355537:S600N	S	+	2	0	ACTN2	234981535	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.701000	0.47094	2.265000	0.75225	0.563000	0.77884	AGC		0.582	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		49	270	0	0	0	1	0	49	270				
USP41	373856	broad.mit.edu	37	22	20729862	20729862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20729862C>T	ENST00000454608.2	-	6	317	c.318G>A	c.(316-318)ctG>ctA	p.L106L	USP41_ENST00000486536.2_5'Flank			Q3LFD5	UBP41_HUMAN	ubiquitin specific peptidase 41	106	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(1)|kidney(1)|lung(2)|skin(1)	5						TCTTCTCCAGCAGCAGAAGCA	0.582																																						ENST00000454608.2																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(316-318)ctG>ctA		ubiquitin specific peptidase 41																																				SO:0001819	synonymous_variant	373856							g.chr22:20729862C>T	AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133		"""Ubiquitin-specific peptidases"""	20070	protein-coding gene	gene with protein product			"""ubiquitin specific protease 41"""			12838346	Standard	XM_006710116		Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.318G>A	22.37:g.20729862C>T							p.L106L							6	317	-								A8MXD0|Q70BM7	Silent	SNP	ENST00000454608.2	37	c.318G>A		.	.	.	.	.	.	.	.	.	.	c	1.759	-0.487212	0.04352	.	.	ENSG00000161133	ENST00000292729	.	.	.	0.406	0.406	0.16366	.	.	.	.	.	T	0.41581	0.1165	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51268	-0.8727	2	.	.	.	.	.	.	.	.	.	.	.	Y	54	.	.	C	-	2	0	USP41	19059862	0.981000	0.34729	0.080000	0.20451	0.022000	0.10575	0.072000	0.14617	0.482000	0.27582	0.280000	0.19369	TGC		0.582	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		XM_036729		23	90	0	0	0	1	0	23	90				
OR5T1	390155	broad.mit.edu	37	11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	rs569178244	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCTTATGATCGCTATGTAGCC	0.413													g|||	2	0.000399361	0.0	0.0	5008	,	,		20817	0.002		0.0	False		,,,				2504	0.0					ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(400-402)cGc>cAc		olfactory receptor, family 5, subfamily T, member 1							217.0	189.0	198.0					11																	56043515		2201	4294	6495	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043515G>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.401G>A	11.37:g.56043515G>A	ENSP00000323612:p.Arg134His						p.R134H	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	487	+	Esophageal squamous(21;0.00448)		134					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.401G>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881976	0.51908	.	.	ENSG00000181698	ENST00000313033	T	0.77489	-1.1	3.44	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.79446	0.4447	M	0.90019	3.08	0.30003	N	0.815822	B	0.28552	0.215	B	0.27715	0.082	T	0.77859	-0.2431	10	0.72032	D	0.01	.	9.96	0.41691	0.1046:0.0:0.8954:0.0	.	134	Q8NG75	OR5T1_HUMAN	H	134	ENSP00000323612:R134H	ENSP00000323612:R134H	R	+	2	0	OR5T1	55800091	0.795000	0.28851	0.070000	0.20053	0.971000	0.66376	4.024000	0.57218	0.795000	0.33922	0.465000	0.42564	CGC		0.413	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		150	865	0	0	0	1	0	150	865				
GANAB	23193	broad.mit.edu	37	11	62400663	62400663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62400663C>A	ENST00000356638.3	-	7	727	c.711G>T	c.(709-711)aaG>aaT	p.K237N	GANAB_ENST00000540933.1_Missense_Mutation_p.K140N|GANAB_ENST00000346178.4_Missense_Mutation_p.K259N|GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000534422.1_5'UTR	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	237					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CACCATACGGCTTGCTGTCAG	0.537																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(775-777)aaG>aaT		glucosidase, alpha; neutral AB							118.0	119.0	119.0					11																	62400663		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400663C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.711G>T	11.37:g.62400663C>A	ENSP00000349053:p.Lys237Asn					GANAB_ENST00000540933.1_Missense_Mutation_p.K140N|GANAB_ENST00000356638.3_Missense_Mutation_p.K237N|GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000534422.1_5'UTR	p.K259N	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			8	792	-			237					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.777G>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364145	0.41902	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.90261	-2.62;-2.61;-1.95;-2.64	5.14	4.23	0.50019	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;P	0.71674	0.998;0.998;0.982;0.938	D;D;P;P	0.75484	0.986;0.986;0.82;0.878	D	0.94050	0.7317	10	0.87932	D	0	-28.5445	10.6238	0.45495	0.0:0.834:0.0:0.166	.	123;145;237;259	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	N	259;237;145;140	ENSP00000340466:K259N;ENSP00000349053:K237N;ENSP00000435306:K145N;ENSP00000442962:K140N	ENSP00000340466:K259N	K	-	3	2	GANAB	62157239	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	0.990000	0.29642	0.763000	0.33175	-1.151000	0.01829	AAG		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		125	475	1	0	2.82925e-58	1	3.54705e-58	125	475				
MCHR1	2847	broad.mit.edu	37	22	41077050	41077050	+	Silent	SNP	G	G	A	rs201582299		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41077050G>A	ENST00000249016.4	+	2	1083	c.387G>A	c.(385-387)acG>acA	p.T129T	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.T129T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	129					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GGAACTCCACGGTCATCTTCG	0.552																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(385-387)acG>acA		melanin-concentrating hormone receptor 1							161.0	128.0	139.0					22																	41077050		2203	4300	6503	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077050G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.387G>A	22.37:g.41077050G>A						MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.T129T	p.T129T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1083	+			129					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.387G>A	CCDS14004.1																																																																																				0.552	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		71	339	0	0	0	1	0	71	339				
PKLR	5313	broad.mit.edu	37	1	155264395	155264395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155264395G>A	ENST00000342741.4	-	6	881	c.843C>T	c.(841-843)gaC>gaT	p.D281D	PKLR_ENST00000392414.3_Silent_p.D250D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	281			D -> N (in PKRD).		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAAAGACGATGTCCACCCCAT	0.637																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(748-750)gaC>gaT		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						83.0	75.0	78.0					1																	155264395		2203	4300	6503	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264395G>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.843C>T	1.37:g.155264395G>A						PKLR_ENST00000342741.4_Silent_p.D281D	p.D250D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	863	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		281					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.750C>T	CCDS1109.1																																																																																				0.637	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		29	326	0	0	0	1	0	29	326				
OR5P2	120065	broad.mit.edu	37	11	7818353	7818353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7818353C>A	ENST00000329434.2	-	1	167	c.137G>T	c.(136-138)aGa>aTa	p.R46I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAGAAATTCTGATAAGAAT	0.413																																						ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(136-138)aGa>aTa		olfactory receptor, family 5, subfamily P, member 2							59.0	75.0	70.0					11																	7818353		2102	4292	6394	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818353C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.137G>T	11.37:g.7818353C>A	ENSP00000331823:p.Arg46Ile					RP11-35J10.5_ENST00000527565.1_lincRNA	p.R46I	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	167	-			46					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.137G>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	7.679	0.688518	0.14973	.	.	ENSG00000183303	ENST00000329434	T	0.02863	4.13	5.5	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.157917	0.45361	D	0.000368	T	0.02727	0.0082	L	0.33093	0.98	0.39969	D	0.974769	B	0.23854	0.092	B	0.24269	0.052	T	0.52034	-0.8629	10	0.30854	T	0.27	-18.3288	7.6182	0.28171	0.0:0.749:0.1654:0.0856	.	46	Q8WZ92	OR5P2_HUMAN	I	46	ENSP00000331823:R46I	ENSP00000331823:R46I	R	-	2	0	OR5P2	7774929	0.010000	0.17322	0.986000	0.45419	0.040000	0.13550	0.158000	0.16422	1.564000	0.49628	0.555000	0.69702	AGA		0.413	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		65	208	1	0	1.20869e-33	1	1.43362e-33	65	208				
LAMA4	3910	broad.mit.edu	37	6	112479990	112479990	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112479990G>A	ENST00000230538.7	-	14	2158	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Silent_p.V580V|LAMA4_ENST00000522006.1_Silent_p.V580V|LAMA4_ENST00000424408.2_Silent_p.V580V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	587	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGCTTCTTGGACTAAATCAT	0.378																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1759-1761)gtC>gtT		laminin, alpha 4							195.0	177.0	183.0					6																	112479990		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112479990G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1761C>T	6.37:g.112479990G>A						LAMA4_ENST00000424408.2_Silent_p.V580V|LAMA4_ENST00000389463.4_Silent_p.V580V|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.V580V	p.V587V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2158	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	587			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.1761C>T	CCDS43491.1																																																																																				0.378	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		18	353	0	0	0	1	0	18	353				
EIF4G1	1981	broad.mit.edu	37	3	184040619	184040619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184040619G>T	ENST00000346169.2	+	13	2077	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000342981.4_Missense_Mutation_p.K602N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	602	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCAGTGGAAGCCTCTAAACC	0.448																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1804-1806)aaG>aaT		eukaryotic translation initiation factor 4 gamma, 1							151.0	146.0	148.0					3																	184040619		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040619G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1806G>T	3.37:g.184040619G>T	ENSP00000316879:p.Lys602Asn					EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.K602N	p.K602N	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	2220	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		602			MIF4G.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1806G>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132163	0.56828	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.4	4.53	0.55603	.	0.048738	0.85682	D	0.000000	T	0.56140	0.1965	M	0.62016	1.91	0.58432	D	0.999993	D;D;D;D	0.56287	0.975;0.975;0.957;0.975	P;P;P;P	0.57468	0.821;0.821;0.65;0.821	T	0.55036	-0.8203	10	0.36615	T	0.2	-16.0527	8.6956	0.34293	0.2243:0.0:0.7757:0.0	.	609;602;602;609	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	602;562;515;602;609;609;543;438;609;515;602;602;609;562;438;438;406;406	ENSP00000316879:K602N;ENSP00000391935:K562N;ENSP00000376320:K515N;ENSP00000391412:K602N;ENSP00000413159:K609N;ENSP00000371767:K609N;ENSP00000403269:K543N;ENSP00000317600:K438N;ENSP00000338020:K609N;ENSP00000407682:K515N;ENSP00000343450:K602N;ENSP00000323737:K602N;ENSP00000416255:K609N;ENSP00000395974:K562N;ENSP00000398145:K438N;ENSP00000399858:K438N;ENSP00000411826:K406N;ENSP00000404754:K406N	ENSP00000323737:K602N	K	+	3	2	EIF4G1	185523313	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.556000	0.45862	1.525000	0.49052	0.563000	0.77884	AAG		0.448	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		112	452	1	0	2.51308e-46	1	3.08599e-46	112	452				
HYDIN	54768	broad.mit.edu	37	16	70841708	70841708	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70841708A>G	ENST00000393567.2	-	86	15291	c.15141T>C	c.(15139-15141)taT>taC	p.Y5047Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5047					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCACCATGTGATAGAAGACAT	0.532																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15139-15141)taT>taC		HYDIN, axonemal central pair apparatus protein							122.0	124.0	123.0					16																	70841708		2036	4203	6239	SO:0001819	synonymous_variant	54768							g.chr16:70841708A>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15141T>C	16.37:g.70841708A>G							p.Y5047Y	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15291	-		Ovarian(137;0.0654)	5047					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.15141T>C	CCDS59269.1																																																																																				0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			16	359	0	0	0	1	0	16	359				
CLEC4F	165530	broad.mit.edu	37	2	71046523	71046523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71046523C>T	ENST00000272367.2	-	3	308	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D78N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	78					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAATGTTGTCTCCCAGAATT	0.532																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(232-234)Gac>Aac		C-type lectin domain family 4, member F							130.0	111.0	117.0					2																	71046523		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71046523C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.232G>A	2.37:g.71046523C>T	ENSP00000272367:p.Asp78Asn					CLEC4F_ENST00000426626.1_Missense_Mutation_p.D78N	p.D78N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			3	308	-			78					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.232G>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816019	0.50527	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01963	4.58;4.53	3.59	-0.488	0.12056	.	1.740840	0.03574	N	0.229119	T	0.02012	0.0063	L	0.43152	1.355	0.09310	N	1	B;B	0.21821	0.061;0.061	B;B	0.13407	0.009;0.009	T	0.45220	-0.9276	10	0.06757	T	0.87	.	1.0895	0.01660	0.1798:0.4327:0.1751:0.2124	.	78;78	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	N	78	ENSP00000272367:D78N;ENSP00000390581:D78N	ENSP00000272367:D78N	D	-	1	0	CLEC4F	70900031	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	-0.508000	0.06344	-0.103000	0.12175	0.305000	0.20034	GAC		0.532	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		69	230	0	0	0	1	0	69	230				
ZFHX3	463	broad.mit.edu	37	16	72822080	72822080	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822080C>T	ENST00000268489.5	-	10	10767	c.10095G>A	c.(10093-10095)caG>caA	p.Q3365Q	ZFHX3_ENST00000397992.5_Silent_p.Q2451Q|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3365					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTATTGCTGGTACTGCT	0.592																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10093-10095)caG>caA		zinc finger homeobox 3							31.0	32.0	32.0					16																	72822080		2196	4297	6493	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822080C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10095G>A	16.37:g.72822080C>T						ZFHX3_ENST00000397992.5_Silent_p.Q2451Q	p.Q3365Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10767	-		Ovarian(137;0.13)	3365					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10095G>A	CCDS10908.1																																																																																				0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		57	280	0	0	0	1	0	57	280				
FAM84A	151354	broad.mit.edu	37	2	14774697	14774697	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774697C>T	ENST00000295092.2	+	2	882	c.594C>T	c.(592-594)ggC>ggT	p.G198G	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Silent_p.G198G	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	198										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACGCCTGCGGCCACCTGGGCC	0.687																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(592-594)ggC>ggT		family with sequence similarity 84, member A							11.0	13.0	12.0					2																	14774697		2187	4273	6460	SO:0001819	synonymous_variant	151354							g.chr2:14774697C>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.594C>T	2.37:g.14774697C>T						FAM84A_ENST00000331243.4_Silent_p.G198G	p.G198G	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	882	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		198					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Silent	SNP	ENST00000295092.2	37	c.594C>T	CCDS1684.1																																																																																				0.687	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		13	30	0	0	0	1	0	13	30				
TAT	6898	broad.mit.edu	37	16	71604256	71604256	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604256G>T	ENST00000355962.4	-	9	1090	c.957C>A	c.(955-957)ccC>ccA	p.P319P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	319					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CAATGGTACAGGGTCCCAAAA	0.493																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(955-957)ccC>ccA		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						70.0	67.0	68.0					16																	71604256		2198	4300	6498	SO:0001819	synonymous_variant	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71604256G>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.957C>A	16.37:g.71604256G>T						RP11-432I5.1_ENST00000561529.1_RNA	p.P319P	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	9	1090	-		Ovarian(137;0.125)	319					B2R8I1|D3DWS2	Silent	SNP	ENST00000355962.4	37	c.957C>A	CCDS10903.1																																																																																				0.493	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			7	295	1	0	2.7689e-08	1	2.89045e-08	7	295				
ESPNL	339768	broad.mit.edu	37	2	239009107	239009107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239009107C>T	ENST00000343063.3	+	1	310	c.47C>T	c.(46-48)gCg>gTg	p.A16V	ESPNL_ENST00000409169.1_Missense_Mutation_p.A16V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	16										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGGATGTGGCGACGTTGGAG	0.701																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(46-48)gCg>gTg		espin-like							12.0	17.0	15.0					2																	239009107		2190	4292	6482	SO:0001583	missense	339768							g.chr2:239009107C>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.47C>T	2.37:g.239009107C>T	ENSP00000339115:p.Ala16Val					ESPNL_ENST00000409169.1_Missense_Mutation_p.A16V	p.A16V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	1	310	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	16					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.47C>T	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789962	0.31685	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.65364	-0.05;-0.15	4.37	4.37	0.52481	Ankyrin repeat-containing domain (4);	0.453640	0.20101	N	0.099224	T	0.52141	0.1716	L	0.45137	1.4	0.42923	D	0.994297	D	0.57571	0.98	P	0.44394	0.448	T	0.49969	-0.8882	10	0.30078	T	0.28	-19.4228	7.7596	0.28944	0.1819:0.6414:0.1767:0.0	.	16	Q6ZVH7	ESPNL_HUMAN	V	16	ENSP00000339115:A16V;ENSP00000386577:A16V	ENSP00000339115:A16V	A	+	2	0	ESPNL	238673846	0.001000	0.12720	0.980000	0.43619	0.037000	0.13140	-0.055000	0.11807	1.988000	0.58038	0.462000	0.41574	GCG		0.701	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		12	83	0	0	0	1	0	12	83				
USP28	57646	broad.mit.edu	37	11	113688414	113688414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113688414G>A	ENST00000003302.4	-	13	1497	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000537706.1_Missense_Mutation_p.H477Y|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000260188.5_Missense_Mutation_p.H477Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	477	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCGAGCAGTGCACTGAAGAA	0.358																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1429-1431)Cac>Tac		ubiquitin specific peptidase 28							163.0	142.0	149.0					11																	113688414		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113688414G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1429C>T	11.37:g.113688414G>A	ENSP00000003302:p.His477Tyr					USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000260188.5_Missense_Mutation_p.H477Y|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000537706.1_Missense_Mutation_p.H477Y	p.H477Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	13	1497	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	477					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1429C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	3.669	-0.068011	0.07228	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706	T;T;T;T;T	0.44083	1.52;1.53;0.93;1.53;1.91	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.638378	0.16792	N	0.199355	T	0.30198	0.0757	N	0.14661	0.345	0.29783	N	0.833808	B;B;B;B	0.22003	0.032;0.043;0.025;0.063	B;B;B;B	0.24974	0.057;0.032;0.023;0.034	T	0.17806	-1.0357	10	0.44086	T	0.13	-10.7052	14.7347	0.69406	0.0:0.0:1.0:0.0	.	352;477;477;185	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	Y	477;477;185;352;477	ENSP00000003302:H477Y;ENSP00000260188:H477Y;ENSP00000442431:H185Y;ENSP00000444991:H352Y;ENSP00000445743:H477Y	ENSP00000003302:H477Y	H	-	1	0	USP28	113193624	0.990000	0.36364	0.718000	0.30602	0.865000	0.49528	2.355000	0.44107	2.861000	0.98227	0.650000	0.86243	CAC		0.358	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			120	469	0	0	0	1	0	120	469				
KMT2B	9757	broad.mit.edu	37	19	36216437	36216437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36216437G>A	ENST00000222270.7	+	12	3700	c.3700G>A	c.(3700-3702)Gag>Aag	p.E1234K	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E1234K	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1234					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGAGGAGGCCGAGCGGCCCCT	0.597																																						ENST00000222270.7																			0											c.(3700-3702)Gag>Aag									159.0	174.0	169.0					19																	36216437		2079	4209	6288	SO:0001583	missense	0							g.chr19:36216437G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3700G>A	19.37:g.36216437G>A	ENSP00000222270:p.Glu1234Lys					WBP7_ENST00000420124.1_Missense_Mutation_p.E1234K|KMT2B_ENST00000607650.1_RNA	p.E1234K	NM_014727.1	NP_055542.1					12	3700	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3700G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729734	0.69074	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.89875	-2.58;-2.58	5.54	5.54	0.83059	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.45126	D	0.000384	D	0.93831	0.8027	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92254	0.5811	10	0.36615	T	0.2	.	18.4191	0.90582	0.0:0.0:1.0:0.0	.	1234	Q9UMN6	MLL4_HUMAN	K	1234	ENSP00000222270:E1234K;ENSP00000398837:E1234K	ENSP00000222270:E1234K	E	+	1	0	AD000671.1	40908277	1.000000	0.71417	0.888000	0.34837	0.981000	0.71138	9.077000	0.94016	2.884000	0.98904	0.655000	0.94253	GAG		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		250	1101	0	0	0	1	0	250	1101				
PAPLN	89932	broad.mit.edu	37	14	73730979	73730979	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73730979C>T	ENST00000554301.1	+	20	3085	c.2922C>T	c.(2920-2922)ggC>ggT	p.G974G	PAPLN_ENST00000427855.1_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Silent_p.G974G|PAPLN_ENST00000340738.5_Silent_p.G947G|PAPLN_ENST00000555445.1_Silent_p.G958G			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	974	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGACGCGGGCACCTACAGCT	0.637																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(2920-2922)ggC>ggT		papilin, proteoglycan-like sulfated glycoprotein							70.0	71.0	71.0					14																	73730979		2203	4300	6503	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73730979C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2922C>T	14.37:g.73730979C>T						PAPLN_ENST00000555445.1_Silent_p.G958G|PAPLN_ENST00000554301.1_Silent_p.G974G|PAPLN_ENST00000381166.3_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.G947G	p.G974G			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	21	3024	+			974			Ig-like C2-type 1.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.2922C>T																																																																																					0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		63	403	0	0	0	1	0	63	403				
DHX9	1660	broad.mit.edu	37	1	182850546	182850546	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182850546C>T	ENST00000367549.3	+	23	2882	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	924					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATTCCAAGCCTGGGATGATG	0.403																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(2770-2772)gcC>gcT		DEAH (Asp-Glu-Ala-His) box helicase 9							143.0	133.0	137.0					1																	182850546		1859	4103	5962	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182850546C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2772C>T	1.37:g.182850546C>T						DHX9_ENST00000485081.1_3'UTR	p.A924A	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			23	2882	+			924					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.2772C>T	CCDS41444.1																																																																																				0.403	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		70	820	0	0	0	1	0	70	820				
SLITRK5	26050	broad.mit.edu	37	13	88329784	88329784	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329784A>G	ENST00000325089.6	+	2	2360	c.2141A>G	c.(2140-2142)tAc>tGc	p.Y714C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	714					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AACATGCAGTACAGCGTGTAC	0.682																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2140-2142)tAc>tGc		SLIT and NTRK-like family, member 5							65.0	74.0	71.0					13																	88329784		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329784A>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2141A>G	13.37:g.88329784A>G	ENSP00000366283:p.Tyr714Cys					SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	p.Y714C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2360	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		714					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2141A>G	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524587	0.44969	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.62	5.13	3.93	0.45458	.	0.000000	0.64402	D	0.000001	T	0.61714	0.2369	L	0.33189	0.99	0.50467	D	0.99987	D;B	0.89917	1.0;0.356	D;B	0.74674	0.984;0.043	T	0.57370	-0.7823	9	.	.	.	-9.4438	9.5331	0.39207	0.8422:0.0:0.0:0.1578	.	473;714	B4DSH5;O94991	.;SLIK5_HUMAN	C	714;473	ENSP00000366283:Y714C;ENSP00000442244:Y473C	.	Y	+	2	0	SLITRK5	87127785	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.792000	0.91856	0.757000	0.33036	0.454000	0.30748	TAC		0.682	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			16	425	0	0	0	1	0	16	425				
BCAT2	587	broad.mit.edu	37	19	49303312	49303312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49303312C>T	ENST00000316273.6	-	5	469	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K|BCAT2_ENST00000402551.1_Missense_Mutation_p.E113K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	153					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.E153K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TTGTCCACTTCGATGAGCCGG	0.642																																						ENST00000402551.1																			1	Substitution - Missense(1)	p.E153K(1)	skin(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(337-339)Gaa>Aaa		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						41.0	43.0	43.0					19																	49303312		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49303312C>T	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.457G>A	19.37:g.49303312C>T	ENSP00000322991:p.Glu153Lys					BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K|BCAT2_ENST00000316273.6_Missense_Mutation_p.E153K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K	p.E113K			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	6	957	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	153					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.337G>A	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	5.292	0.239195	0.10023	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.16324	2.35;2.35;2.35	4.86	1.33	0.21861	.	0.159471	0.53938	D	0.000054	T	0.05686	0.0149	N	0.05306	-0.075	0.53005	D	0.999963	B;B;B;B	0.24963	0.013;0.115;0.002;0.115	B;B;B;B	0.19391	0.01;0.025;0.002;0.015	T	0.38628	-0.9652	10	0.02654	T	1	-7.9185	8.2993	0.32004	0.0:0.6183:0.2964:0.0852	.	113;153;61;153	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	K	153;61;113	ENSP00000322991:E153K;ENSP00000440973:E61K;ENSP00000385161:E113K	ENSP00000322991:E153K	E	-	1	0	BCAT2	53995124	0.047000	0.20315	0.007000	0.13788	0.559000	0.35586	1.230000	0.32612	0.152000	0.19188	0.561000	0.74099	GAA		0.642	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			66	209	0	0	0	1	0	66	209				
C14orf39	317761	broad.mit.edu	37	14	60921756	60921756	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60921756T>C	ENST00000321731.3	-	16	1625	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	489					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TACAGAAGAATCAAATAAATT	0.308																																						ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1465-1467)gAt>gGt		chromosome 14 open reading frame 39							47.0	51.0	50.0					14																	60921756		2201	4284	6485	SO:0001583	missense	317761							g.chr14:60921756T>C	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1466A>G	14.37:g.60921756T>C	ENSP00000324920:p.Asp489Gly						p.D489G	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	16	1625	-			489					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1466A>G	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002911	0.35320	.	.	ENSG00000179008	ENST00000321731	T	0.32023	1.47	5.84	5.84	0.93424	.	0.082515	0.52532	D	0.000080	T	0.53158	0.1779	M	0.67953	2.075	0.44345	D	0.997235	D	0.76494	0.999	D	0.74674	0.984	T	0.56195	-0.8019	10	0.87932	D	0	-20.2714	13.5881	0.61944	0.0:0.0:0.0:1.0	.	489	Q8N1H7	S6OS1_HUMAN	G	489	ENSP00000324920:D489G	ENSP00000324920:D489G	D	-	2	0	C14orf39	59991509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.015000	0.49599	2.234000	0.73211	0.459000	0.35465	GAT		0.308	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		39	189	0	0	0	1	0	39	189				
MYO7A	4647	broad.mit.edu	37	11	76869383	76869383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76869383G>A	ENST00000409709.3	+	9	1182	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T|MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	304	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCGCTCCGCCATGAAGGT	0.612																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(910-912)Gcc>Acc		myosin VIIA							51.0	56.0	55.0					11																	76869383		2150	4250	6400	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76869383G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.910G>A	11.37:g.76869383G>A	ENSP00000386331:p.Ala304Thr					MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T	p.A304T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			9	1182	+			304			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.910G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006606	0.93287	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.72	5.72	0.89469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.994;1.0	D	0.94018	0.7290	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	304;304;304	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	304;304;304;293;303;303;303	ENSP00000386331:A304T;ENSP00000386689:A304T;ENSP00000392185:A304T;ENSP00000386635:A293T	ENSP00000340325:A303T	A	+	1	0	MYO7A	76547031	1.000000	0.71417	0.964000	0.40570	0.940000	0.58332	7.967000	0.87967	2.711000	0.92665	0.655000	0.94253	GCC		0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		40	137	0	0	0	1	0	40	137				
KRTAP19-4	337971	broad.mit.edu	37	21	31869270	31869270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31869270G>T	ENST00000334058.2	-	1	181	c.159C>A	c.(157-159)tgC>tgA	p.C53*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	53						intermediate filament (GO:0005882)		p.C53C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCTCCATAGCATGATGGGC	0.473																																						ENST00000334058.2																			1	Substitution - coding silent(1)	p.C53C(1)	ovary(1)	central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(157-159)tgC>tgA		keratin associated protein 19-4							130.0	133.0	132.0					21																	31869270		2203	4300	6503	SO:0001587	stop_gained	337971					intermediate filament		g.chr21:31869270G>T	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.159C>A	21.37:g.31869270G>T	ENSP00000335567:p.Cys53*						p.C53*	NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN			1	181	-			53					Q17RT4|Q17RT6	Nonsense_Mutation	SNP	ENST00000334058.2	37	c.159C>A	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509738	0.44660	.	.	ENSG00000186967	ENST00000334058	.	.	.	4.03	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.35907	D	0.830791	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.6235	0.17470	0.109:0.2007:0.6903:0.0	.	.	.	.	X	53	.	ENSP00000335567:C53X	C	-	3	2	KRTAP19-4	30791141	0.015000	0.18098	0.002000	0.10522	0.234000	0.25298	1.132000	0.31418	0.643000	0.30638	0.591000	0.81541	TGC		0.473	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			77	886	1	0	9.59377e-39	1	1.15749e-38	77	886				
LACTB2	51110	broad.mit.edu	37	8	71553220	71553220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71553220G>A	ENST00000276590.4	-	5	694	c.658C>T	c.(658-660)Cga>Tga	p.R220*	LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Nonsense_Mutation_p.R220*	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	220						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R220*(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTGCTCTCGAATATTTCTG	0.294																																						ENST00000276590.4																			1	Substitution - Nonsense(1)	p.R220*(1)	endometrium(1)	endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10						c.(658-660)Cga>Tga		lactamase, beta 2							39.0	40.0	40.0					8																	71553220		2201	4285	6486	SO:0001587	stop_gained	51110						hydrolase activity|metal ion binding	g.chr8:71553220G>A	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.658C>T	8.37:g.71553220G>A	ENSP00000276590:p.Arg220*					LACTB2_ENST00000522447.1_Nonsense_Mutation_p.R220*|RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron	p.R220*	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	694	-	Breast(64;0.0716)		220					A8K2D6|Q9Y392	Nonsense_Mutation	SNP	ENST00000276590.4	37	c.658C>T	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373569	0.82573	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	.	.	.	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0669	14.9984	0.71451	0.0684:0.0:0.9316:0.0	.	.	.	.	X	220	.	ENSP00000276590:R220X	R	-	1	2	LACTB2	71715774	1.000000	0.71417	0.890000	0.34922	0.704000	0.40688	6.100000	0.71473	1.448000	0.47680	-0.169000	0.13324	CGA		0.294	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		27	131	0	0	0	1	0	27	131				
SLC44A5	204962	broad.mit.edu	37	1	75688057	75688057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75688057C>A	ENST00000370855.5	-	14	1187	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N|SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	358					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCTTCCTTCCTTCAGCAGGA	0.413																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1072-1074)aaG>aaT		solute carrier family 44, member 5							141.0	126.0	131.0					1																	75688057		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75688057C>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1074G>T	1.37:g.75688057C>A	ENSP00000359892:p.Lys358Asn					SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N|SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N	p.K358N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			14	1187	-			358					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1074G>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.319973	0.60634	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.27557	1.66;1.66;1.66	5.06	4.14	0.48551	.	0.189164	0.56097	D	0.000037	T	0.41003	0.1140	M	0.85462	2.755	0.58432	D	0.99999	P;P;P;B;P	0.51351	0.767;0.944;0.767;0.338;0.883	P;P;P;B;P	0.56865	0.562;0.808;0.562;0.328;0.565	T	0.48151	-0.9060	10	0.66056	D	0.02	-5.5689	9.8266	0.40916	0.0:0.7842:0.1415:0.0743	.	352;397;358;358;397	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	N	358;397;358;228;351	ENSP00000359896:K358N;ENSP00000359892:K358N;ENSP00000443090:K228N	ENSP00000359892:K358N	K	-	3	2	SLC44A5	75460645	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.368000	0.34216	1.444000	0.47605	0.655000	0.94253	AAG		0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		27	181	1	0	2.81731e-10	1	2.98404e-10	27	181				
SLC35A3	23443	broad.mit.edu	37	1	100472710	100472710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100472710C>T	ENST00000370155.3	+	4	855	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000465289.1_Nonsense_Mutation_p.Q155*	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	155					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGCTTTTGTACAGGTAACTAT	0.308																																					Ovarian(7;298 356 944 2149 6911)	ENST00000465289.1																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(463-465)Cag>Tag		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							97.0	102.0	100.0					1																	100472710		2203	4300	6503	SO:0001587	stop_gained	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100472710C>T	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.463C>T	1.37:g.100472710C>T	ENSP00000359174:p.Gln155*					SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*|SLC35A3_ENST00000370155.3_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*	p.Q155*	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	4	855	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	155					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Nonsense_Mutation	SNP	ENST00000370155.3	37	c.463C>T	CCDS762.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147607	0.97324	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9071	18.1433	0.89647	0.0:1.0:0.0:0.0	.	.	.	.	X	155;155;155;197;155	.	ENSP00000359172:Q197X	Q	+	1	0	SLC35A3	100245298	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	7.487000	0.81328	2.292000	0.77174	0.655000	0.94253	CAG		0.308	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		22	253	0	0	0	1	0	22	253				
CDHR1	92211	broad.mit.edu	37	10	85973961	85973961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85973961G>A	ENST00000372117.3	+	17	2267	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	722					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CATCTCCACCGCCACCTTCTG	0.637																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2164-2166)Gcc>Acc		cadherin-related family member 1							64.0	70.0	68.0					10																	85973961		2203	4299	6502	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973961G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2164G>A	10.37:g.85973961G>A	ENSP00000361189:p.Ala722Thr					CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T|CDHR1_ENST00000332904.3_Intron	p.A722T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2267	+			722					Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2164G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544279	0.96488	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.58652	0.56;0.32	5.53	5.53	0.82687	.	0.094075	0.64402	D	0.000001	T	0.75148	0.3810	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.69479	0.9;0.964	T	0.75852	-0.3171	10	0.52906	T	0.07	-17.1913	18.2273	0.89921	0.0:0.0:1.0:0.0	.	426;722	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	722;426	ENSP00000361189:A722T;ENSP00000415980:A426T	ENSP00000361189:A722T	A	+	1	0	CDHR1	85963941	1.000000	0.71417	0.963000	0.40424	0.852000	0.48524	7.632000	0.83247	2.596000	0.87737	0.561000	0.74099	GCC		0.637	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		121	512	0	0	0	1	0	121	512				
KIDINS220	57498	broad.mit.edu	37	2	8936988	8936988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8936988C>T	ENST00000256707.3	-	11	1192	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000473731.1_Silent_p.T337T|KIDINS220_ENST00000319688.5_Silent_p.T338T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	337					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTATAAGTGGCGTTTCACCAT	0.398																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1009-1011)acG>acA		kinase D-interacting substrate, 220kDa							212.0	207.0	209.0					2																	8936988		1964	4164	6128	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8936988C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1011G>A	2.37:g.8936988C>T						KIDINS220_ENST00000319688.5_Silent_p.T338T|KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000473731.1_Silent_p.T337T	p.T337T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			11	1192	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		337					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.1011G>A	CCDS42650.1																																																																																				0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		15	638	0	0	0	1	0	15	638				
KCNK6	9424	broad.mit.edu	37	19	38817902	38817902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817902G>A	ENST00000263372.3	+	3	908	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	267					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCCTCACGGAGCTCATCCTGC	0.647																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(799-801)gaG>gaA		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						71.0	60.0	63.0					19																	38817902		2203	4300	6503	SO:0001819	synonymous_variant	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817902G>A	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.801G>A	19.37:g.38817902G>A							p.E267E	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		3	908	+	all_cancers(60;5.83e-07)		267					Q9HB47	Silent	SNP	ENST00000263372.3	37	c.801G>A	CCDS12513.1																																																																																				0.647	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		68	336	0	0	0	1	0	68	336				
DST	667	broad.mit.edu	37	6	56328406	56328406	+	Missense_Mutation	SNP	G	G	A	rs201429821	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56328406G>A	ENST00000361203.3	-	96	21963	c.21956C>T	c.(21955-21957)gCg>gTg	p.A7319V	DST_ENST00000446842.2_Missense_Mutation_p.A7104V|DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000244364.6_Missense_Mutation_p.A4992V|DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.A7430V|DST_ENST00000370754.5_Missense_Mutation_p.A7608V			Q03001	DYST_HUMAN	dystonin	7428	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCCGCCTGCGCAGCCTGACT	0.587													G|||	5	0.000998403	0.0	0.0	5008	,	,		17762	0.0		0.005	False		,,,				2504	0.0					ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(22822-22824)gCg>gTg		dystonin		G	VAL/ALA	1,4025		0,1,2012	55.0	64.0	61.0		14975	0.6	0.0	6		61	13,8311		0,13,4149	yes	missense	DST	NM_015548.4	64	0,14,6161	AA,AG,GG		0.1562,0.0248,0.1134	benign	4992/5172	56328406	14,12336	2013	4162	6175	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56328406G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21956C>T	6.37:g.56328406G>A	ENSP00000354508:p.Ala7319Val					DST_ENST00000370769.4_Missense_Mutation_p.A7430V|DST_ENST00000244364.6_Missense_Mutation_p.A4992V|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000361203.3_Missense_Mutation_p.A7319V|DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000446842.2_Missense_Mutation_p.A7104V	p.A7608V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		100	22822	-	Lung NSC(77;0.103)		7428					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.22823C>T		4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	G|G	2.123|2.123	-0.400962|-0.400962	0.04865|0.04865	2.48E-4|2.48E-4	0.001562|0.001562	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000523292	T;T;T;T;T;T;T|.	0.62105|.	1.13;0.05;0.05;0.13;1.01;0.1;0.06|.	5.73|5.73	0.582|0.582	0.17412|0.17412	.|.	0.489613|.	0.18730|.	N|.	0.132777|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.03608|0.03608	-0.345|-0.345	0.23589|.	N|.	0.997341|.	B;B;B;B;B;B;B;B|.	0.16166|.	0.0;0.01;0.002;0.0;0.003;0.002;0.0;0.016|.	B;B;B;B;B;B;B;B|.	0.13407|.	0.001;0.0;0.001;0.001;0.009;0.001;0.002;0.003|.	T|T	0.23368|0.23368	-1.0190|-1.0190	9|4	0.23891|.	T|.	0.37|.	.|.	13.3256|13.3256	0.60457|0.60457	0.2087:0.2518:0.5395:0.0|0.2087:0.2518:0.5395:0.0	.|.	5315;7430;7608;7428;4992;116;79;5233|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0|.	.;.;.;DYST_HUMAN;.;.;.;.|.	V|C	4992;7608;7430;5315;7104;5233;7319|117	ENSP00000244364:A4992V;ENSP00000359790:A7608V;ENSP00000359805:A7430V;ENSP00000400883:A5315V;ENSP00000393645:A7104V;ENSP00000359824:A5233V;ENSP00000354508:A7319V|.	ENSP00000244364:A4992V|.	A|R	-|-	2|1	0|0	DST|DST	56436365|56436365	0.014000|0.014000	0.17966|0.17966	0.002000|0.002000	0.10522|0.10522	0.104000|0.104000	0.19210|0.19210	0.391000|0.391000	0.20784|0.20784	-0.186000|-0.186000	0.10533|0.10533	-0.165000|-0.165000	0.13383|0.13383	GCG|CGC		0.587	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		80	353	0	0	0	1	0	80	353				
PHIP	55023	broad.mit.edu	37	6	79671415	79671415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79671415C>T	ENST00000275034.4	-	31	3815	c.3648G>A	c.(3646-3648)agG>agA	p.R1216R	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1216	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACCTGTAAAACCTGTTTTCCA	0.408																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3646-3648)agG>agA		pleckstrin homology domain interacting protein							127.0	112.0	117.0					6																	79671415		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79671415C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3648G>A	6.37:g.79671415C>T						PHIP_ENST00000479165.1_5'UTR	p.R1216R	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	31	3815	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1216			Bromo 1.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.3648G>A	CCDS4987.1																																																																																				0.408	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			39	182	0	0	0	1	0	39	182				
SLC22A17	51310	broad.mit.edu	37	14	23821156	23821156	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821156C>T	ENST00000206544.8	-	1	604		c.e1+1		SLC22A17_ENST00000354772.3_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCCGCCTCACCTGGCCGATG	0.692																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.e2+1		solute carrier family 22, member 17							19.0	20.0	19.0					14																	23821156		2195	4291	6486	SO:0001630	splice_region_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821156C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.267+1G>A	14.37:g.23821156C>T						SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000206544.8_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site		NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	771	-	all_cancers(95;7.12e-06)							A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Splice_Site	SNP	ENST00000206544.8	37		CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270684	0.59540	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7391	0.46143	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A17	22890996	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.987000	0.29603	1.867000	0.54127	0.462000	0.41574	.		0.692	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	Intron	30	122	0	0	0	1	0	30	122				
PCDHGC3	5098	broad.mit.edu	37	5	140856829	140856829	+	Silent	SNP	C	C	T	rs60063068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856829C>T	ENST00000308177.3	+	1	1250	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGCTGGCGAGAACGGGC	0.567													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17932	0.0		0.0	False		,,,				2504	0.0					ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1144-1146)ggC>ggT				C	,,,,,,,,,,,,,,,,,,,,,,	24,4382	30.8+/-60.4	0,24,2179	44.0	42.0	42.0		1146,,,,,,,,,,,,,,,,,,,,,1146,	-3.2	0.9	5	dbSNP_129	42	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032092.1,NM_032402.1,NM_032403.1	,,,,,,,,,,,,,,,,,,,,,,	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	,,,,,,,,,,,,,,,,,,,,,,	382/935,,,,,,,,,,,,,,,,,,,,,382/864,	140856829	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140856829C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1146C>T	5.37:g.140856829C>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.G382G	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1250	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1146C>T	CCDS4261.1																																																																																				0.567	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		49	175	0	0	0	1	0	49	175				
USP7	7874	broad.mit.edu	37	16	8997161	8997161	+	Silent	SNP	C	C	T	rs146507622		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8997161C>T	ENST00000344836.4	-	16	2001	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	USP7_ENST00000381886.4_Silent_p.S585S|USP7_ENST00000535863.1_Silent_p.S502S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	601					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTCAGCAAGCGAGGAGTTCT	0.502																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1801-1803)tcG>tcA		ubiquitin specific peptidase 7 (herpes virus-associated)		C		1,4393	2.1+/-5.4	0,1,2196	150.0	119.0	129.0		1803	-8.9	0.3	16	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP7	NM_003470.2		0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154		601/1103	8997161	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8997161C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1803G>A	16.37:g.8997161C>T						USP7_ENST00000381886.4_Silent_p.S585S|USP7_ENST00000535863.1_Silent_p.S502S	p.S601S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			16	2001	-			601					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.1803G>A	CCDS32385.1																																																																																				0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			8	302	0	0	0	1	0	8	302				
SEC24C	9632	broad.mit.edu	37	10	75528646	75528646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528646C>T	ENST00000339365.2	+	17	2422	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	754					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)|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(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCTGTGATGCGGGTCCGGAC	0.567																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2260-2262)Cgg>Tgg		SEC24 family member C							175.0	139.0	151.0					10																	75528646		2203	4300	6503	SO:0001583	missense	9632				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	protein binding|zinc ion binding	g.chr10:75528646C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2260C>T	10.37:g.75528646C>T	ENSP00000343405:p.Arg754Trp					SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W	p.R754W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			17	2422	+	Prostate(51;0.0112)		754					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2260C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901965	0.72754	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.72	0.42706	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.90145	3.09	0.80722	D	1	D;D;D	0.67145	0.991;0.994;0.996	P;P;P	0.59115	0.593;0.769;0.852	T	0.70741	-0.4789	10	0.87932	D	0	-8.8039	12.4733	0.55799	0.5246:0.4754:0.0:0.0	.	635;754;754	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	W	2;754;2;754;635	ENSP00000446174:R2W;ENSP00000321845:R754W;ENSP00000445023:R2W;ENSP00000343405:R754W;ENSP00000402913:R635W	ENSP00000343405:R754W	R	+	1	2	SEC24C	75198652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.691000	0.54720	1.382000	0.46385	0.467000	0.42956	CGG		0.567	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			22	229	0	0	0	1	0	22	229				
RABGEF1	27342	broad.mit.edu	37	7	66274251	66274251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66274251C>T	ENST00000284957.5	+	9	1533	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|GTF2IRD1P1_ENST00000457166.1_RNA|KCTD7_ENST00000380828.2_Missense_Mutation_p.P526S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	703	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						ACCACTGCAACCTCAAGTTTA	0.398																																						ENST00000380828.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(1576-1578)Cct>Tct		potassium channel tetramerization domain containing 7							50.0	50.0	50.0					7																	66274251		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66274251C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1456C>T	7.37:g.66274251C>T	ENSP00000284957:p.Pro486Ser					RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000284957.5_Missense_Mutation_p.P486S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000484547.2_3'UTR	p.P526S			Q96MP8	KCTD7_HUMAN			11	1730	+			0					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.1576C>T	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955184	0.92726	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.69561	-0.41;-0.09;-0.09;-0.09;-0.09;-0.2;-0.21	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.987	T	0.81464	-0.0921	10	0.72032	D	0.01	-21.9137	19.2161	0.93778	0.0:1.0:0.0:0.0	.	500;320;703	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	S	570;526;486;486;402;486;486;499;500	ENSP00000370208:P526S;ENSP00000421124:P486S;ENSP00000398177:P486S;ENSP00000284957:P486S;ENSP00000415815:P486S;ENSP00000403429:P499S;ENSP00000390480:P500S	ENSP00000370207:P570S	P	+	1	0	RABGEF1;KCTD7	65911686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.288000	0.78691	2.778000	0.95560	0.655000	0.94253	CCT		0.398	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		55	296	0	0	0	1	0	55	296				
LIPH	200879	broad.mit.edu	37	3	185232288	185232288	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185232288A>C	ENST00000296252.4	-	8	1145	c.1004T>G	c.(1003-1005)aTt>aGt	p.I335S	LIPH_ENST00000424591.2_Missense_Mutation_p.I301S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	335					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCATGTTATAATATCCACAAA	0.393																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(1003-1005)aTt>aGt		lipase, member H							230.0	202.0	211.0					3																	185232288		2203	4299	6502	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185232288A>C	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1004T>G	3.37:g.185232288A>C	ENSP00000296252:p.Ile335Ser					LIPH_ENST00000424591.2_Missense_Mutation_p.I301S	p.I335S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		8	1145	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		335					A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.1004T>G	CCDS3272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.927515|1.927515	0.34002|0.34002	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000296252;ENST00000424591|ENST00000435679	D;D|.	0.90504|.	-2.68;-2.58|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.170455|.	0.53938|.	D|.	0.000046|.	T|T	0.64011|0.64011	0.2560|0.2560	M|M	0.72894|0.72894	2.215|2.215	0.32274|0.32274	N|N	0.568493|0.568493	D;D|.	0.63880|.	0.993;0.957|.	P;P|.	0.55455|.	0.776;0.71|.	T|T	0.71820|0.71820	-0.4477|-0.4477	10|5	0.87932|.	D|.	0|.	-13.7778|-13.7778	13.4427|13.4427	0.61123|0.61123	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	301;335|.	A2IBA6;Q8WWY8|.	.;LIPH_HUMAN|.	S|V	335;301|13	ENSP00000296252:I335S;ENSP00000396384:I301S|.	ENSP00000296252:I335S|.	I|L	-|-	2|1	0|2	LIPH|LIPH	186714982|186714982	0.994000|0.994000	0.37717|0.37717	0.969000|0.969000	0.41365|0.41365	0.254000|0.254000	0.26022|0.26022	6.868000|6.868000	0.75516|0.75516	2.044000|2.044000	0.60594|0.60594	0.379000|0.379000	0.24179|0.24179	ATT|TTA		0.393	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			89	352	0	0	0	1	0	89	352				
ADARB2	105	broad.mit.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(373-375)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)							26.0	27.0	26.0					10																	1405926		2203	4298	6501	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405926G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.374C>T	10.37:g.1405926G>A	ENSP00000370713:p.Ala125Val						p.A125V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	699	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	125			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.374C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.005300	0.54254	.	.	ENSG00000185736	ENST00000381312	T	0.23147	1.92	4.82	4.82	0.62117	Double-stranded RNA-binding (1);	0.464205	0.25919	N	0.027444	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.26969	0.075	T	0.09015	-1.0694	10	0.36615	T	0.2	-13.7546	17.9271	0.88987	0.0:0.0:1.0:0.0	.	125	Q9NS39	RED2_HUMAN	V	125	ENSP00000370713:A125V	ENSP00000370713:A125V	A	-	2	0	ADARB2	1395926	0.999000	0.42202	0.778000	0.31720	0.962000	0.63368	6.627000	0.74258	2.210000	0.71456	0.558000	0.71614	GCG		0.692	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		60	150	0	0	0	1	0	60	150				
TCERG1	10915	broad.mit.edu	37	5	145843122	145843122	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145843122A>G	ENST00000296702.5	+	5	939	c.901A>G	c.(901-903)Aca>Gca	p.T301A	TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	301	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACCCACAACACAAGATCA	0.388																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(901-903)Aca>Gca		transcription elongation regulator 1							191.0	189.0	190.0					5																	145843122		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843122A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.901A>G	5.37:g.145843122A>G	ENSP00000296702:p.Thr301Ala					TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	p.T301A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	939	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	301			Thr-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.901A>G	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196428	0.38806	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.28895	1.59;1.59	5.39	5.39	0.77823	.	0.158654	0.47093	D	0.000244	T	0.18257	0.0438	L	0.27053	0.805	0.33838	D	0.631074	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.19353	-1.0308	10	0.07325	T	0.83	-7.9798	9.8517	0.41061	0.9233:0.0:0.0767:0.0	.	301;301;301	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	A	301	ENSP00000296702:T301A;ENSP00000377943:T301A	ENSP00000296702:T301A	T	+	1	0	TCERG1	145823315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.185000	0.58330	2.027000	0.59764	0.460000	0.39030	ACA		0.388	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		147	799	0	0	0	1	0	147	799				
PBX1	5087	broad.mit.edu	37	1	164781364	164781364	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164781364G>A	ENST00000420696.2	+	6	1163	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PBX1_ENST00000367897.1_Silent_p.S325S|PBX1_ENST00000401534.1_Silent_p.S325S|PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000540246.1_Silent_p.S220S|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000559240.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	325					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AAGCTAACTCGCCCTCAACTC	0.443			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(973-975)tcG>tcA		pre-B-cell leukemia homeobox 1							105.0	83.0	91.0					1																	164781364		2203	4300	6503	SO:0001819	synonymous_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164781364G>A	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.975G>A	1.37:g.164781364G>A						PBX1_ENST00000540246.1_Silent_p.S220S|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000367897.1_Silent_p.S325S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000401534.1_Silent_p.S325S	p.S325S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			6	1163	+			325					B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	37	c.975G>A	CCDS1246.1																																																																																				0.443	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		72	229	0	0	0	1	0	72	229				
RARS2	57038	broad.mit.edu	37	6	88240541	88240541	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240541A>C	ENST00000369536.5	-	9	777	c.732T>G	c.(730-732)ttT>ttG	p.F244L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	244					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TCAAGTCCCGAAATTTTTGCC	0.473																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(730-732)ttT>ttG		arginyl-tRNA synthetase 2, mitochondrial							179.0	161.0	167.0					6																	88240541		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240541A>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.732T>G	6.37:g.88240541A>C	ENSP00000358549:p.Phe244Leu						p.F244L	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	777	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	244					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.732T>G	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338772	0.81911	.	.	ENSG00000146282	ENST00000369536	T	0.58358	0.34	6.17	1.25	0.21368	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.60845	1.875	0.53688	D	0.999976	P	0.47604	0.898	P	0.55391	0.775	T	0.41840	-0.9486	10	0.45353	T	0.12	.	9.2739	0.37688	0.6473:0.0:0.3527:0.0	.	244	Q5T160	SYRM_HUMAN	L	244	ENSP00000358549:F244L	ENSP00000358549:F244L	F	-	3	2	RARS2	88297260	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	1.724000	0.38064	-0.011000	0.14247	-0.274000	0.10170	TTT		0.473	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		78	397	0	0	0	1	0	78	397				
RFX1	5989	broad.mit.edu	37	19	14080949	14080949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080949G>A	ENST00000254325.4	-	10	1587	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	451					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.G451G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGACTCACGCCCTCAGCCG	0.622																																						ENST00000254325.4																			1	Substitution - coding silent(1)	p.G451G(1)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1351-1353)ggC>ggT		regulatory factor X, 1 (influences HLA class II expression)							62.0	59.0	60.0					19																	14080949		2203	4300	6503	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14080949G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1353C>T	19.37:g.14080949G>A							p.G451G	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		10	1587	-			451						Silent	SNP	ENST00000254325.4	37	c.1353C>T	CCDS12301.1																																																																																				0.622	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		69	328	0	0	0	1	0	69	328				
PREX1	57580	broad.mit.edu	37	20	47324875	47324875	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47324875T>C	ENST00000371941.3	-	6	728	c.706A>G	c.(706-708)Aac>Gac	p.N236D	PREX1_ENST00000396220.1_Missense_Mutation_p.N236D	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	236	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCATTGATGTTGGAGCAAACG	0.617																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(706-708)Aac>Gac		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							138.0	141.0	140.0					20																	47324875		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47324875T>C	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.706A>G	20.37:g.47324875T>C	ENSP00000361009:p.Asn236Asp					PREX1_ENST00000371941.3_Missense_Mutation_p.N236D	p.N236D			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		6	728	-			236			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.706A>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	31	5.083529	0.94050	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62788	-0.0;-0.0	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000016	T	0.73536	0.3599	L	0.48935	1.535	0.58432	D	0.999999	D	0.69078	0.997	D	0.74348	0.983	T	0.74685	-0.3582	10	0.52906	T	0.07	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	236	Q8TCU6	PREX1_HUMAN	D	236	ENSP00000361009:N236D;ENSP00000379522:N236D	ENSP00000361009:N236D	N	-	1	0	PREX1	46758282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.939000	0.70179	2.147000	0.66899	0.533000	0.62120	AAC		0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		42	1135	0	0	0	1	0	42	1135				
C6	729	broad.mit.edu	37	5	41186182	41186182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41186182A>C	ENST00000263413.3	-	6	980	c.716T>G	c.(715-717)gTc>gGc	p.V239G	C6_ENST00000337836.5_Missense_Mutation_p.V239G|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	239	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCAAAGCCGACATTTTCCAG	0.423																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(715-717)gTc>gGc		complement component 6							128.0	117.0	121.0					5																	41186182		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41186182A>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.716T>G	5.37:g.41186182A>C	ENSP00000263413:p.Val239Gly					C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.V239G	p.V239G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			6	980	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	239			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.716T>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873182	0.72180	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61392	0.11;0.11	5.99	5.99	0.97316	Membrane attack complex component/perforin (MACPF) domain (1);	0.218031	0.46758	D	0.000268	T	0.64951	0.2645	M	0.72479	2.2	0.80722	D	1	D	0.58970	0.984	P	0.47470	0.548	T	0.69049	-0.5248	10	0.54805	T	0.06	-16.1571	16.4943	0.84223	1.0:0.0:0.0:0.0	.	239	P13671	CO6_HUMAN	G	239	ENSP00000338861:V239G;ENSP00000263413:V239G	ENSP00000263413:V239G	V	-	2	0	C6	41221939	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	7.357000	0.79456	2.291000	0.77112	0.533000	0.62120	GTC		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			37	170	0	0	0	1	0	37	170				
BRD1	23774	broad.mit.edu	37	22	50191584	50191584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50191584C>T	ENST00000216267.8	-	5	2453	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000404034.1_Missense_Mutation_p.R656H|BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	656					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCCTGATCGCGCAGCCTCAC	0.577																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1966-1968)cGc>cAc		bromodomain containing 1							74.0	66.0	69.0					22																	50191584		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50191584C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1967G>A	22.37:g.50191584C>T	ENSP00000216267:p.Arg656His					BRD1_ENST00000404034.1_Missense_Mutation_p.R656H|BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H	p.R656H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	5	2453	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	656					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1967G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394432	0.83011	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.29	5.29	0.74685	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	P;D;P;D	0.67900	0.895;0.954;0.756;0.951	T	0.52563	-0.8559	10	0.66056	D	0.02	.	18.9391	0.92598	0.0:1.0:0.0:0.0	.	656;251;656;656	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	H	656;656;656;656;344;251;116	ENSP00000216267:R656H;ENSP00000384076:R656H;ENSP00000385858:R656H;ENSP00000410042:R656H;ENSP00000437514:R344H;ENSP00000345886:R251H	ENSP00000216267:R656H	R	-	2	0	BRD1	48577588	1.000000	0.71417	0.957000	0.39632	0.969000	0.65631	7.549000	0.82163	2.458000	0.83093	0.655000	0.94253	CGC		0.577	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		63	239	0	0	0	1	0	63	239				
MYBBP1A	10514	broad.mit.edu	37	17	4445963	4445963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4445963C>T	ENST00000254718.4	-	21	3272	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	989					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCTGTTGCGCTTGGTCAG	0.637																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(2965-2967)cGc>cAc		MYB binding protein (P160) 1a							147.0	136.0	140.0					17																	4445963		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4445963C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2966G>A	17.37:g.4445963C>T	ENSP00000254718:p.Arg989His					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H	p.R989H			Q9BQG0	MBB1A_HUMAN			21	3272	-			989					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.2966G>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738408	0.89573	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.68181	-0.31;-0.31	5.7	4.73	0.59995	Armadillo-type fold (1);	0.102039	0.64402	D	0.000003	T	0.78874	0.4352	M	0.71581	2.175	0.42954	D	0.994382	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80115	-0.1517	10	0.56958	D	0.05	-26.5309	10.5564	0.45121	0.0:0.9112:0.0:0.0888	.	989;989	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	989	ENSP00000370968:R989H;ENSP00000254718:R989H	ENSP00000254718:R989H	R	-	2	0	MYBBP1A	4392712	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.033000	0.57282	1.420000	0.47138	0.655000	0.94253	CGC		0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		92	459	0	0	0	1	0	92	459				
TIFA	92610	broad.mit.edu	37	4	113199287	113199287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199287G>A	ENST00000361717.3	-	2	567	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TIFA_ENST00000500655.2_Silent_p.L96L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	96	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCCACGATCAGATTGGTCTTT	0.413																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(286-288)Ctg>Ttg		TRAF-interacting protein with forkhead-associated domain							45.0	44.0	44.0					4																	113199287		2203	4300	6503	SO:0001819	synonymous_variant	92610						protein binding	g.chr4:113199287G>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.286C>T	4.37:g.113199287G>A						TIFA_ENST00000500655.2_Silent_p.L96L	p.L96L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	567	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	96			FHA.			Silent	SNP	ENST00000361717.3	37	c.286C>T	CCDS34051.1																																																																																				0.413	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		45	224	0	0	0	1	0	45	224				
OLFM1	10439	broad.mit.edu	37	9	137998692	137998692	+	Silent	SNP	C	C	T	rs557820013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137998692C>T	ENST00000371793.3	+	5	1025	c.774C>T	c.(772-774)ggC>ggT	p.G258G	OLFM1_ENST00000371796.3_Silent_p.G231G|OLFM1_ENST00000252854.4_Silent_p.G240G	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	258	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCCCTGAAGGCGATAACCGGG	0.617																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(718-720)ggC>ggT		olfactomedin 1							57.0	49.0	52.0					9																	137998692		2202	4300	6502	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137998692C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.774C>T	9.37:g.137998692C>T						OLFM1_ENST00000371793.3_Silent_p.G258G|OLFM1_ENST00000371796.3_Silent_p.G231G	p.G240G	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	5	907	+		Myeloproliferative disorder(178;0.0333)	258			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.720C>T																																																																																					0.617	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		14	69	0	0	0	1	0	14	69				
SERPINA5	5104	broad.mit.edu	37	14	95054179	95054179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054179C>T	ENST00000554866.1	+	2	594	c.480C>T	c.(478-480)acC>acT	p.T160T	SERPINA5_ENST00000329597.7_Silent_p.T160T|SERPINA5_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000554276.1_Silent_p.T160T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	160					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTCCCTACCAACTTTAGGG	0.512																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(478-480)acC>acT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						87.0	77.0	80.0					14																	95054179		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054179C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.480C>T	14.37:g.95054179C>T						SERPINA5_ENST00000554866.1_Silent_p.T160T|SERPINA5_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000554276.1_Silent_p.T160T	p.T160T	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	690	+			160					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.480C>T	CCDS9928.1																																																																																				0.512	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		44	259	0	0	0	1	0	44	259				
LPAR1	1902	broad.mit.edu	37	9	113704156	113704156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704156G>A	ENST00000374431.3	-	4	721	c.338C>T	c.(337-339)aCt>aTt	p.T113I	LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I|LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	113					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTCTCCGAGTATTGGGTCC	0.488																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(337-339)aCt>aTt		lysophosphatidic acid receptor 1							151.0	153.0	152.0					9																	113704156		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704156G>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.338C>T	9.37:g.113704156G>A	ENSP00000363553:p.Thr113Ile					LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I|LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I	p.T113I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	721	-			113					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.338C>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474455	0.84640	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.992	D	0.88001	0.2756	10	0.87932	D	0	.	18.45	0.90700	0.0:0.0:1.0:0.0	.	114;114;113	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	I	113;114;113;113;95;114;113	ENSP00000363553:T113I;ENSP00000445697:T114I;ENSP00000363552:T113I;ENSP00000351755:T113I;ENSP00000440201:T114I;ENSP00000401810:T113I	ENSP00000351755:T113I	T	-	2	0	LPAR1	112743977	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.869000	0.99810	2.616000	0.88540	0.655000	0.94253	ACT		0.488	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		127	672	0	0	0	1	0	127	672				
ACAA1	30	broad.mit.edu	37	3	38163660	38163660	+	IGR	SNP	G	G	A	rs574902581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38163660G>A	ENST00000333167.8	-	0	1785				ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000308059.6_Missense_Mutation_p.A1707T|DLEC1_ENST00000346219.3_Intron|DLEC1_ENST00000452631.2_Missense_Mutation_p.A1710T	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AACCTCCATCGCCTTGCAGGT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17557	0.0		0.0	False		,,,				2504	0.001					ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(5119-5121)Gcc>Acc		deleted in lung and esophageal cancer 1							59.0	69.0	66.0					3																	38163660		2059	4190	6249	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163660G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163660G>A						DLEC1_ENST00000346219.3_Intron|DLEC1_ENST00000452631.2_Missense_Mutation_p.A1710T	p.A1707T			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	36	5140	+			1707					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.5119G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	1.647	-0.514910	0.04200	.	.	ENSG00000008226	ENST00000308059;ENST00000452631	T;T	0.04502	3.61;3.84	4.86	-0.709	0.11237	.	.	.	.	.	T	0.01627	0.0052	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.08055	0.003;0.001;0.003	T	0.49031	-0.8981	9	0.12766	T	0.61	.	5.8206	0.18526	0.2946:0.4557:0.2498:0.0	.	1710;1707;1707	F8W6T4;B7ZW06;Q9Y238	.;.;DLEC1_HUMAN	T	1707;1710	ENSP00000308597:A1707T;ENSP00000410427:A1710T	ENSP00000308597:A1707T	A	+	1	0	DLEC1	38138664	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.283000	0.18846	-0.391000	0.07763	-0.367000	0.07326	GCC		0.632	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		46	230	0	0	0	1	0	46	230				
ANKFN1	162282	broad.mit.edu	37	17	54554920	54554920	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54554920C>A	ENST00000318698.2	+	15	1889	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L	ANKFN1_ENST00000566473.2_Silent_p.L618L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	618										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACCTAAAGCTCTGTAGCTCTG	0.368																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1852-1854)ctC>ctA		ankyrin-repeat and fibronectin type III domain containing 1							124.0	120.0	122.0					17																	54554920		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54554920C>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1854C>A	17.37:g.54554920C>A						ANKFN1_ENST00000318698.2_Silent_p.L618L	p.L618L			Q8N957	ANKF1_HUMAN			15	1854	+			618						Silent	SNP	ENST00000318698.2	37	c.1854C>A	CCDS32686.1																																																																																				0.368	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		113	423	1	0	4.16533e-50	1	5.15817e-50	113	423				
IRS4	8471	broad.mit.edu	37	X	107979104	107979104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979104G>A	ENST00000372129.2	-	1	547	c.471C>T	c.(469-471)agC>agT	p.S157S	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	157	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGCTCGCTGGCTCACGGAAA	0.637																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(469-471)agC>agT		insulin receptor substrate 4							63.0	52.0	56.0					X																	107979104		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979104G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.471C>T	X.37:g.107979104G>A							p.S157S	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	547	-			157			PH.			Silent	SNP	ENST00000372129.2	37	c.471C>T	CCDS14544.1																																																																																				0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		88	304	0	0	0	1	0	88	304				
TMC2	117532	broad.mit.edu	37	20	2597782	2597782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2597782T>C	ENST00000358864.1	+	16	2020	c.2005T>C	c.(2005-2007)Tac>Cac	p.Y669H	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	669					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCTCCATGTACTTCCAGTG	0.567																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2005-2007)Tac>Cac		transmembrane channel-like 2							155.0	117.0	130.0					20																	2597782		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2597782T>C	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2005T>C	20.37:g.2597782T>C	ENSP00000351732:p.Tyr669His					TMC2_ENST00000496948.1_3'UTR	p.Y669H	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			16	2020	+			669					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2005T>C	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606491	0.87157	.	.	ENSG00000149488	ENST00000358864	T	0.79749	-1.3	5.35	5.35	0.76521	.	0.113958	0.64402	D	0.000008	D	0.89787	0.6816	M	0.82630	2.6	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.91210	0.4998	10	0.87932	D	0	-7.3629	13.5825	0.61911	0.0:0.0:0.0:1.0	.	669	Q8TDI7	TMC2_HUMAN	H	669	ENSP00000351732:Y669H	ENSP00000351732:Y669H	Y	+	1	0	TMC2	2545782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.145000	0.66743	0.528000	0.53228	TAC		0.567	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			71	296	0	0	0	1	0	71	296				
SLX4	84464	broad.mit.edu	37	16	3640331	3640331	+	Missense_Mutation	SNP	C	C	T	rs201618094		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3640331C>T	ENST00000294008.3	-	12	3948	c.3308G>A	c.(3307-3309)cGt>cAt	p.R1103H		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1103	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CACGGACCGACGCTCTTTGCC	0.532								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3307-3309)cGt>cAt	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							117.0	111.0	113.0					16																	3640331		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640331C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3308G>A	16.37:g.3640331C>T	ENSP00000294008:p.Arg1103His						p.R1103H	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3948	-			1103			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3308G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	6.582	0.475802	0.12521	.	.	ENSG00000188827	ENST00000294008	T	0.18502	2.21	5.32	-1.72	0.08107	.	1.886240	0.01875	N	0.037469	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.21484	-1.0244	10	0.40728	T	0.16	.	0.6741	0.00864	0.2592:0.3307:0.1152:0.2949	.	1103	Q8IY92	SLX4_HUMAN	H	1103	ENSP00000294008:R1103H	ENSP00000294008:R1103H	R	-	2	0	SLX4	3580332	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.256000	0.08757	-0.591000	0.05859	0.655000	0.94253	CGT		0.532	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		137	662	0	0	0	1	0	137	662				
CHST6	4166	broad.mit.edu	37	16	75513648	75513648	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75513648A>T	ENST00000332272.4	-	3	258	c.79T>A	c.(79-81)Tcc>Acc	p.S27T	CHST6_ENST00000390664.2_Missense_Mutation_p.S27T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	27					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGGCCGGGAAACCAGAAAG	0.687																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(79-81)Tcc>Acc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							13.0	16.0	15.0					16																	75513648		2189	4294	6483	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513648A>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.79T>A	16.37:g.75513648A>T	ENSP00000328983:p.Ser27Thr					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.S27T	p.S27T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	258	-			27					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.79T>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339809	0.24339	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.96334	-3.98;-3.98	5.01	2.62	0.31277	.	1.219520	0.06151	N	0.674135	D	0.91841	0.7418	L	0.29908	0.895	0.33931	D	0.642091	B	0.14438	0.01	B	0.08055	0.003	D	0.85804	0.1375	10	0.18276	T	0.48	.	7.2899	0.26360	0.7159:0.144:0.0:0.1401	.	27	Q9GZX3	CHST6_HUMAN	T	27	ENSP00000328983:S27T;ENSP00000375079:S27T	ENSP00000328983:S27T	S	-	1	0	CHST6	74071149	0.375000	0.25089	0.997000	0.53966	0.293000	0.27360	1.087000	0.30865	1.871000	0.54225	0.482000	0.46254	TCC		0.687	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		27	74	0	0	0	1	0	27	74				
TAOK1	57551	broad.mit.edu	37	17	27849349	27849349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27849349C>T	ENST00000261716.3	+	17	2479	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	654					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGCTACTCCGACAGCATGA	0.423																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1960-1962)Cga>Tga		TAO kinase 1							94.0	85.0	88.0					17																	27849349		2203	4300	6503	SO:0001587	stop_gained	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849349C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1960C>T	17.37:g.27849349C>T	ENSP00000261716:p.Arg654*					TAOK1_ENST00000536202.1_Intron	p.R654*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2479	+			654					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	37	c.1960C>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	42	9.535808	0.99198	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.96	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3638	0.83307	0.133:0.867:0.0:0.0	.	.	.	.	X	654	.	ENSP00000261716:R654X	R	+	1	2	TAOK1	24873475	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	3.231000	0.51294	1.486000	0.48398	0.643000	0.83706	CGA		0.423	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		64	347	0	0	0	1	0	64	347				
CCDC89	220388	broad.mit.edu	37	11	85397127	85397127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85397127G>A	ENST00000316398.3	-	1	193	c.47C>T	c.(46-48)aCc>aTc	p.T16I		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGGGCGGGGTGTCCATCCT	0.527																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(46-48)aCc>aTc		coiled-coil domain containing 89							67.0	70.0	69.0					11																	85397127		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85397127G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.47C>T	11.37:g.85397127G>A	ENSP00000320649:p.Thr16Ile						p.T16I	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	193	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	16						Missense_Mutation	SNP	ENST00000316398.3	37	c.47C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796267	0.31777	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.61	3.75	0.43078	.	0.411501	0.17492	N	0.172313	T	0.43831	0.1265	L	0.57536	1.79	0.22552	N	0.998991	B	0.15473	0.013	B	0.19148	0.024	T	0.30208	-0.9986	8	.	.	.	-2.6236	12.1409	0.53996	0.1409:0.0:0.8591:0.0	.	16	Q8N998	CCD89_HUMAN	I	16	.	.	T	-	2	0	CCDC89	85074775	0.015000	0.18098	0.566000	0.28421	0.177000	0.22998	1.749000	0.38319	0.736000	0.32559	-0.136000	0.14681	ACC		0.527	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		15	475	0	0	0	1	0	15	475				
TRPV2	51393	broad.mit.edu	37	17	16335315	16335315	+	Missense_Mutation	SNP	G	G	A	rs372855524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16335315G>A	ENST00000338560.7	+	12	2089	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	564					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGGCGCCCCGAAGCTCCTAC	0.647																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1690-1692)Gaa>Aaa		transient receptor potential cation channel, subfamily V, member 2		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	42.0	42.0	42.0		1690	-2.9	0.0	17		42	0,8600		0,0,4300	no	missense	TRPV2	NM_016113.4	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	564/765	16335315	1,13005	2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335315G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1690G>A	17.37:g.16335315G>A	ENSP00000342222:p.Glu564Lys					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K	p.E564K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2089	+			564					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1690G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597432	0.28445	2.27E-4	0.0	ENSG00000187688	ENST00000338560	D	0.89552	-2.53	4.55	-2.93	0.05598	Ion transport (1);	4.637680	0.00397	N	0.000041	T	0.72676	0.3490	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.68762	-0.5323	10	0.06891	T	0.86	-31.6603	5.3118	0.15835	0.445:0.1439:0.4112:0.0	.	564	Q9Y5S1	TRPV2_HUMAN	K	564	ENSP00000342222:E564K	ENSP00000342222:E564K	E	+	1	0	TRPV2	16276040	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.404000	0.01045	-0.940000	0.03705	0.449000	0.29647	GAA		0.647	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		58	243	0	0	0	1	0	58	243				
BOLA1	51027	broad.mit.edu	37	1	149871987	149871987	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149871987A>G	ENST00000369153.2	+	3	1039	c.375A>G	c.(373-375)ccA>ccG	p.P125P	BOLA1_ENST00000369152.5_Silent_p.P125P|BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	125						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTAGCCCCCCATGCCTGGGTG	0.637																																						ENST00000369153.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(373-375)ccA>ccG		bolA family member 1							27.0	33.0	31.0					1																	149871987		2203	4300	6503	SO:0001819	synonymous_variant	51027					extracellular region	protein binding	g.chr1:149871987A>G	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.375A>G	1.37:g.149871987A>G						BOLA1_ENST00000369152.5_Silent_p.P125P|BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000476344.1_3'UTR	p.P125P			Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	1039	+	Breast(34;0.0124)|all_hematologic(923;0.127)		125					B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	c.375A>G	CCDS939.1																																																																																				0.637	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		70	234	0	0	0	1	0	70	234				
OR5AS1	219447	broad.mit.edu	37	11	55798285	55798285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798285C>T	ENST00000313555.1	+	1	391	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAACCCACTGCTCTATACTAC	0.458																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(391-393)Ctc>Ttc		olfactory receptor, family 5, subfamily AS, member 1							155.0	126.0	136.0					11																	55798285		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798285C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.391C>T	11.37:g.55798285C>T	ENSP00000324111:p.Leu131Phe						p.L131F	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	391	+	Esophageal squamous(21;0.00693)		131					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.391C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927250	0.34002	.	.	ENSG00000181785	ENST00000313555	T	0.00760	5.73	5.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.280065	0.19121	U	0.122191	T	0.02848	0.0085	M	0.83312	2.635	0.19300	N	0.999978	D	0.53619	0.961	P	0.50405	0.64	T	0.29518	-1.0009	10	0.45353	T	0.12	.	15.7281	0.77780	0.1459:0.854:0.0:0.0	.	131	Q8N127	O5AS1_HUMAN	F	131	ENSP00000324111:L131F	ENSP00000324111:L131F	L	+	1	0	OR5AS1	55554861	0.951000	0.32395	0.939000	0.37840	0.020000	0.10135	2.180000	0.42537	2.557000	0.86248	0.643000	0.83706	CTC		0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		78	369	0	0	0	1	0	78	369				
SLC9A2	6549	broad.mit.edu	37	2	103281562	103281562	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103281562C>A	ENST00000233969.2	+	3	899	c.757C>A	c.(757-759)Ctg>Atg	p.L253M		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	253					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCTGCAGGTCCTGTACAACTT	0.443																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(757-759)Ctg>Atg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							176.0	168.0	171.0					2																	103281562		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103281562C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.757C>A	2.37:g.103281562C>A	ENSP00000233969:p.Leu253Met						p.L253M	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			3	899	+			253					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.757C>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486589	0.63962	.	.	ENSG00000115616	ENST00000233969	T	0.21543	2.0	5.86	4.99	0.66335	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.76938	2.355	0.46927	D	0.999254	D	0.89917	1.0	D	0.87578	0.998	T	0.47947	-0.9077	10	0.62326	D	0.03	.	11.6148	0.51083	0.0:0.8635:0.0:0.1365	.	253	Q9UBY0	SL9A2_HUMAN	M	253	ENSP00000233969:L253M	ENSP00000233969:L253M	L	+	1	2	SLC9A2	102647994	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.978000	0.40598	1.627000	0.50400	0.650000	0.86243	CTG		0.443	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			14	1003	1	0	0.105934	1	0.106132	14	1003				
NOL6	65083	broad.mit.edu	37	9	33468760	33468760	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468760C>T	ENST00000379471.2	-	8	1224	c.1137G>A	c.(1135-1137)ttG>ttA	p.L379L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L319L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	379					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCAGAAACTGCAAGACACTTC	0.527																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1135-1137)ttG>ttA		nucleolar protein 6 (RNA-associated)							171.0	179.0	176.0					9																	33468760		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468760C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1137G>A	9.37:g.33468760C>T						NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L319L	p.L379L			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	8	1224	-			379					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1137G>A																																																																																					0.527	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		18	1367	0	0	0	1	0	18	1367				
AFM	173	broad.mit.edu	37	4	74357693	74357693	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74357693C>T	ENST00000226355.3	+	8	1041	c.948C>T	c.(946-948)aaC>aaT	p.N316N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	316	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCATAATTAACTCAAACAAAG	0.378																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(946-948)aaC>aaT		afamin							87.0	90.0	89.0					4																	74357693		2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74357693C>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.948C>T	4.37:g.74357693C>T							p.N316N	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1041	+	Breast(15;0.00102)		316			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.948C>T	CCDS3557.1																																																																																				0.378	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			103	335	0	0	0	1	0	103	335				
PRDM14	63978	broad.mit.edu	37	8	70981662	70981662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70981662C>T	ENST00000276594.2	-	2	635	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	145					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTGTCAGGTCCACAACACGG	0.587																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(433-435)gGa>gAa		PR domain containing 14							58.0	54.0	55.0					8																	70981662		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981662C>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.434G>A	8.37:g.70981662C>T	ENSP00000276594:p.Gly145Glu						p.G145E	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	635	-	Breast(64;0.193)		145					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.434G>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457606	0.43634	.	.	ENSG00000147596	ENST00000276594	T	0.10288	2.89	4.91	0.865	0.19074	.	1.039280	0.07551	N	0.915390	T	0.07324	0.0185	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41822	-0.9487	10	0.35671	T	0.21	-1.2174	5.2354	0.15443	0.0:0.4967:0.3205:0.1828	.	145	Q9GZV8	PRD14_HUMAN	E	145	ENSP00000276594:G145E	ENSP00000276594:G145E	G	-	2	0	PRDM14	71144216	0.976000	0.34144	0.001000	0.08648	0.062000	0.15995	-0.100000	0.10990	-0.026000	0.13895	0.563000	0.77884	GGA		0.587	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			40	270	0	0	0	1	0	40	270				
ZMYND10	51364	broad.mit.edu	37	3	50379568	50379568	+	Missense_Mutation	SNP	G	G	A	rs371047847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50379568G>A	ENST00000231749.3	-	9	2149	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	RASSF1_ENST00000488024.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W|ZMYND10_ENST00000490675.1_Intron	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	293					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGAAGGCCCGAAGCTGCAAG	0.612										TSP Lung(30;0.18)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		17563	0.0		0.0	False		,,,				2504	0.0					ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(877-879)Cgg>Tgg		zinc finger, MYND-type containing 10							67.0	67.0	67.0					3																	50379568		2203	4300	6503	SO:0001583	missense	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50379568G>A	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.877C>T	3.37:g.50379568G>A	ENSP00000231749:p.Arg293Trp	TSP Lung(30;0.18)				ZMYND10_ENST00000490675.1_Intron|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W	p.R293W	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	9	2149	-			293					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	c.877C>T	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721875	0.68959	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	.	.	.	5.31	3.41	0.39046	.	0.107154	0.64402	D	0.000005	T	0.76912	0.4054	M	0.86178	2.8	0.32311	N	0.563782	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.909	D	0.83569	0.0111	9	0.87932	D	0	-9.3558	13.8817	0.63686	0.0:0.0:0.7216:0.2784	.	288;293	O75800-2;O75800	.;ZMY10_HUMAN	W	293;288;250	.	ENSP00000231749:R293W	R	-	1	2	ZMYND10	50354572	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	2.512000	0.45485	0.536000	0.28733	0.462000	0.41574	CGG		0.612	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		66	365	0	0	0	1	0	66	365				
MEIS2	4212	broad.mit.edu	37	15	37390266	37390266	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37390266C>T	ENST00000561208.1	-	2	565	c.147G>A	c.(145-147)caG>caA	p.Q49Q	MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000559561.1_Silent_p.Q49Q|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000338564.5_Silent_p.Q49Q|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000382766.2_Silent_p.Q49Q|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000559085.1_Silent_p.Q36Q|RP11-128A17.1_ENST00000559509.1_RNA			O14770	MEIS2_HUMAN	Meis homeobox 2	49					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CGCCGTAGTGCTGTGTGGCGT	0.672																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(145-147)caG>caA		Meis homeobox 2							54.0	56.0	55.0					15																	37390266		2200	4296	6496	SO:0001819	synonymous_variant	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37390266C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.147G>A	15.37:g.37390266C>T						MEIS2_ENST00000559561.1_Silent_p.Q49Q|MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000561208.1_Silent_p.Q49Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000559085.1_Silent_p.Q36Q|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000382766.2_Silent_p.Q49Q	p.Q49Q	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	3	593	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	49					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	c.147G>A	CCDS10044.1																																																																																				0.672	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		94	394	0	0	0	1	0	94	394				
NLRP3	114548	broad.mit.edu	37	1	247597464	247597464	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247597464G>A	ENST00000336119.3	+	5	3133	c.2387G>A	c.(2386-2388)aGc>aAc	p.S796N	NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000366497.2_Missense_Mutation_p.S796N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	796					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTCCTCAGCAGCAACCAGAAG	0.557																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2386-2388)aGc>aAc		NLR family, pyrin domain containing 3							131.0	121.0	125.0					1																	247597464		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247597464G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2387G>A	1.37:g.247597464G>A	ENSP00000337383:p.Ser796Asn					NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000336119.3_Missense_Mutation_p.S796N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N	p.S796N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	3167	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	853					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2387G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	9.475	1.096623	0.20552	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.93019	0.71;0.62;0.71;-3.15;0.62;-3.15	3.44	1.49	0.22878	.	0.747174	0.12005	N	0.508408	D	0.87997	0.6319	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.002	T	0.76446	-0.2956	10	0.34782	T	0.22	.	7.3519	0.26695	0.2236:0.0:0.7764:0.0	.	739;739;796;796	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	N	796;796;796;739;796;739	ENSP00000375704:S796N;ENSP00000355453:S796N;ENSP00000337383:S796N;ENSP00000294752:S739N;ENSP00000355452:S796N;ENSP00000375703:S739N	ENSP00000337383:S796N	S	+	2	0	NLRP3	245664087	0.000000	0.05858	0.416000	0.26546	0.639000	0.38242	0.242000	0.18087	0.435000	0.26365	0.472000	0.43445	AGC		0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		137	494	0	0	0	1	0	137	494				
ZNF850	342892	broad.mit.edu	37	19	37239046	37239046	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37239046T>C	ENST00000591344.1	-	5	3054	c.2896A>G	c.(2896-2898)Aca>Gca	p.T966A	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	966					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GTAAGGTGTGTACGCTGTCTG	0.433																																						ENST00000591344.1																			0											c.(2896-2898)Aca>Gca		zinc finger protein 850																																				SO:0001583	missense	342892				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37239046T>C	BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.2896A>G	19.37:g.37239046T>C	ENSP00000464976:p.Thr966Ala					ZNF850_ENST00000589390.1_Intron	p.T966A	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN			5	3054	-			966						Missense_Mutation	SNP	ENST00000591344.1	37	c.2896A>G	CCDS59379.1																																																																																				0.433	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453557.1	XM_001720258		7	20	0	0	0	1	0	7	20				
BMX	660	broad.mit.edu	37	X	15568034	15568034	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15568034C>A	ENST00000357607.2	+	18	2055	c.1867C>A	c.(1867-1869)Ctg>Atg	p.L623M	BMX_ENST00000348343.6_Missense_Mutation_p.L623M|BMX_ENST00000342014.6_Missense_Mutation_p.L623M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	623	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CCAGGTGGTTCTGAAGGTCTC	0.572																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1867-1869)Ctg>Atg		BMX non-receptor tyrosine kinase							161.0	137.0	145.0					X																	15568034		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15568034C>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1867C>A	X.37:g.15568034C>A	ENSP00000350224:p.Leu623Met					BMX_ENST00000348343.6_Missense_Mutation_p.L623M|BMX_ENST00000342014.6_Missense_Mutation_p.L623M	p.L623M			P51813	BMX_HUMAN			18	2055	+	Hepatocellular(33;0.183)		623			Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1867C>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644307	0.47258	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82803	-1.65;-1.65;-1.65	5.68	1.82	0.25136	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.586451	0.16020	N	0.233329	T	0.70605	0.3243	N	0.17474	0.49	0.23636	N	0.997231	B	0.22541	0.071	B	0.31191	0.125	T	0.62353	-0.6872	10	0.72032	D	0.01	.	7.5313	0.27685	0.151:0.2529:0.5962:0.0	.	623	P51813	BMX_HUMAN	M	623	ENSP00000350224:L623M;ENSP00000308774:L623M;ENSP00000340082:L623M	ENSP00000340082:L623M	L	+	1	2	BMX	15477955	0.998000	0.40836	0.476000	0.27291	0.976000	0.68499	2.077000	0.41557	0.172000	0.19760	-0.223000	0.12442	CTG		0.572	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		160	601	1	0	2.63875e-70	1	3.35177e-70	160	601				
CCRL2	9034	broad.mit.edu	37	3	46450274	46450274	+	Missense_Mutation	SNP	G	G	A	rs376131944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46450274G>A	ENST00000399036.3	+	2	1056	c.704G>A	c.(703-705)aGc>aAc	p.S235N	RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Missense_Mutation_p.S235N|CCRL2_ENST00000400880.3_Missense_Mutation_p.S235N|CCRL2_ENST00000357392.4_Missense_Mutation_p.S247N	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	235					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CAGAGGTATAGCCTTTTCAAG	0.388																																						ENST00000399036.3																			0											c.(703-705)aGc>aAc									211.0	210.0	210.0					3																	46450274		1917	4114	6031	SO:0001583	missense	0							g.chr3:46450274G>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.704G>A	3.37:g.46450274G>A	ENSP00000381994:p.Ser235Asn					ACKR5_ENST00000400882.2_Missense_Mutation_p.S235N|ACKR5_ENST00000357392.4_Missense_Mutation_p.S247N|ACKR5_ENST00000400880.3_Missense_Mutation_p.S235N	p.S235N	NM_003965.4	NP_003956.2					2	1056	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.704G>A	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382199	0.24944	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.49	-4.73	0.03259	GPCR, rhodopsin-like superfamily (1);	2.259790	0.02401	N	0.080709	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.19946	0.016;0.027	T	0.39522	-0.9610	10	0.72032	D	0.01	.	14.0252	0.64582	0.3336:0.0:0.6664:0.0	.	247;235	O00421-2;O00421	.;CCRL2_HUMAN	N	235;247;235;235	ENSP00000381994:S235N;ENSP00000349967:S247N;ENSP00000383677:S235N;ENSP00000383678:S235N	ENSP00000349967:S247N	S	+	2	0	CCRL2	46425278	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.703000	0.05063	-0.747000	0.04759	-0.350000	0.07774	AGC		0.388	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			250	1138	0	0	0	1	0	250	1138				
SCRN1	9805	broad.mit.edu	37	7	29963698	29963698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963698C>A	ENST00000426154.1	-	8	1296	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SCRN1_ENST00000416113.2_Nonsense_Mutation_p.E200*|SCRN1_ENST00000434476.2_Nonsense_Mutation_p.E394*|SCRN1_ENST00000242059.5_Nonsense_Mutation_p.E374*|SCRN1_ENST00000425819.2_Nonsense_Mutation_p.E306*|SCRN1_ENST00000409497.1_Nonsense_Mutation_p.E374*	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	374					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TTCTCCAGCTCCAGCATGGTG	0.552																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(1120-1122)Gag>Tag		secernin 1							82.0	75.0	77.0					7																	29963698		2203	4300	6503	SO:0001587	stop_gained	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29963698C>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1120G>T	7.37:g.29963698C>A	ENSP00000409068:p.Glu374*					SCRN1_ENST00000242059.5_Nonsense_Mutation_p.E374*|SCRN1_ENST00000416113.2_Nonsense_Mutation_p.E200*|SCRN1_ENST00000409497.1_Nonsense_Mutation_p.E374*	p.E374*	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			8	1296	-			374					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Nonsense_Mutation	SNP	ENST00000426154.1	37	c.1120G>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430932	0.96150	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	.	.	.	4.59	4.59	0.56863	.	0.073478	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.3403	16.3318	0.83023	0.0:1.0:0.0:0.0	.	.	.	.	X	374;374;306;178;374;200;394	.	ENSP00000242059:E374X	E	-	1	0	SCRN1	29930223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.291000	0.65667	2.249000	0.74217	0.561000	0.74099	GAG		0.552	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		82	321	1	0	3.26865e-45	1	4.00579e-45	82	321				
SSPO	23145	broad.mit.edu	37	7	149515002	149515002	+	RNA	SNP	G	G	A	rs73481854	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149515002G>A	ENST00000378016.2	+	0	11392							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCACACGGGAAGCTGTC	0.672													G|||	11	0.00219649	0.0083	0.0	5008	,	,		16793	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin		G		17,3981		0,17,1982	42.0	47.0	45.0		11402	4.3	0.4	7	dbSNP_130	45	0,8308		0,0,4154	yes	coding-notMod3	SSPO	NM_198455.2		0,17,6136	AA,AG,GG		0.0,0.4252,0.1381			149515002	17,12289	1999	4154	6153			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515002G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515002G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11392	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				33	191	0	0	0	1	0	33	191				
OTUD4	54726	broad.mit.edu	37	4	146058757	146058757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146058757C>T	ENST00000447906.2	-	21	3357	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.G992D			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1057					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACCAGAATAGCCCCAATCACT	0.413																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2974-2976)gGc>gAc		OTU domain containing 4							242.0	236.0	238.0					4																	146058757		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146058757C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3170G>A	4.37:g.146058757C>T	ENSP00000395487:p.Gly1057Asp					OTUD4_ENST00000447906.2_Missense_Mutation_p.G1057D|OTUD4_ENST00000455611.2_Intron	p.G992D	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3112	-	all_hematologic(180;0.151)		1056					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2975G>A		.	.	.	.	.	.	.	.	.	.	C	12.11	1.840269	0.32513	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34667	1.36;1.35	6.17	5.29	0.74685	.	0.324146	0.30859	N	0.008727	T	0.26810	0.0656	L	0.29908	0.895	0.80722	D	1	P;P	0.46512	0.879;0.808	B;B	0.40940	0.344;0.186	T	0.01675	-1.1298	10	0.51188	T	0.08	-5.5415	10.4324	0.44415	0.0:0.7961:0.1351:0.0688	.	1057;1056	G3V0I6;Q01804	.;OTUD4_HUMAN	D	992;1057	ENSP00000409279:G992D;ENSP00000395487:G1057D	ENSP00000395487:G1057D	G	-	2	0	OTUD4	146278207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.756000	0.47549	2.941000	0.99782	0.655000	0.94253	GGC		0.413	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		224	971	0	0	0	1	0	224	971				
NANOS3	342977	broad.mit.edu	37	19	13988311	13988311	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13988311C>T	ENST00000397555.2	+	2	192	c.192C>T	c.(190-192)aaC>aaT	p.N64N	NANOS3_ENST00000591727.1_Intron|MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000339133.5_Silent_p.N83N	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	64					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCAAACACAACGGCGAGTCCC	0.662																																						ENST00000397555.2																			0				breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(190-192)aaC>aaT		nanos homolog 3 (Drosophila)							46.0	55.0	52.0					19																	13988311		2191	4288	6479	SO:0001819	synonymous_variant	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988311C>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.192C>T	19.37:g.13988311C>T						NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_Silent_p.N83N	p.N64N	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	192	+			64					Q495E5	Silent	SNP	ENST00000397555.2	37	c.192C>T																																																																																					0.662	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		51	273	0	0	0	1	0	51	273				
KPTN	11133	broad.mit.edu	37	19	47979831	47979831	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47979831C>T	ENST00000338134.3	-	11	1247	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	KPTN_ENST00000536339.1_Silent_p.Q140Q	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	380					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CGGCAAGCTCCTGCAGCCCAT	0.652																																						ENST00000338134.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(1138-1140)caG>caA		kaptin (actin binding protein)							24.0	27.0	26.0					19																	47979831		2056	4190	6246	SO:0001819	synonymous_variant	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47979831C>T	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.1140G>A	19.37:g.47979831C>T						KPTN_ENST00000536339.1_Silent_p.Q140Q	p.Q380Q	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	11	1247	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	380					B3KN86|B4DQ76|Q96GT1	Silent	SNP	ENST00000338134.3	37	c.1140G>A	CCDS42583.1																																																																																				0.652	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			40	156	0	0	0	1	0	40	156				
FGFR3	2261	broad.mit.edu	37	4	1807392	1807392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1807392G>A	ENST00000260795.2	+	11	1743	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	FGFR3_ENST00000352904.1_Silent_p.Q435Q|FGFR3_ENST00000340107.4_Silent_p.Q549Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q|FGFR3_ENST00000440486.2_Silent_p.Q547Q			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTGCACGCAGGGCGGTAGGT	0.647		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1645-1647)caG>caA		fibroblast growth factor receptor 3	Palifermin(DB00039)						55.0	51.0	53.0					4																	1807392		2203	4300	6503	SO:0001819	synonymous_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807392G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1641G>A	4.37:g.1807392G>A						FGFR3_ENST00000440486.2_Silent_p.Q547Q|FGFR3_ENST00000260795.2_Silent_p.Q547Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000352904.1_Silent_p.Q435Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q	p.Q549Q	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		12	1903	+		Breast(71;0.212)|all_epithelial(65;0.241)	547			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.1647G>A	CCDS3353.1																																																																																				0.647	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		63	291	0	0	0	1	0	63	291				
TRIM26	7726	broad.mit.edu	37	6	30166750	30166750	+	Missense_Mutation	SNP	C	C	T	rs371459188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30166750C>T	ENST00000454678.2	-	4	567	c.131G>A	c.(130-132)cGc>cAc	p.R44H	TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	44					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						TGAGATGGGGCGGACGTCTGT	0.602																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.(130-132)cGc>cAc		tripartite motif containing 26		C	HIS/ARG,HIS/ARG	0,3020		0,0,1510	48.0	45.0	46.0		131,131	5.6	0.9	6		46	1,5417		0,1,2708	no	missense,missense	TRIM26	NM_003449.4,NM_001242783.1	29,29	0,1,4218	TT,TC,CC		0.0185,0.0,0.0119	benign,benign	44/540,44/540	30166750	1,8437	1510	2709	4219	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166750C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.131G>A	6.37:g.30166750C>T	ENSP00000410446:p.Arg44His					TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H	p.R44H	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			4	567	-			44					A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.131G>A	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116427	0.37339	0.0	1.85E-4	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11	5.59	5.59	0.84812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.265447	0.27302	N	0.019995	T	0.04634	0.0126	L	0.58354	1.805	0.38578	D	0.950108	B	0.32245	0.361	B	0.22753	0.041	T	0.32587	-0.9901	10	0.22109	T	0.4	.	17.0723	0.86578	0.0:1.0:0.0:0.0	.	44	Q12899	TRI26_HUMAN	H	44	ENSP00000391879:R44H;ENSP00000410446:R44H;ENSP00000395491:R44H;ENSP00000413673:R44H;ENSP00000387530:R44H;ENSP00000400920:R44H	ENSP00000413673:R44H	R	-	2	0	TRIM26	30274729	0.002000	0.14202	0.911000	0.35937	0.044000	0.14063	-0.183000	0.09712	2.631000	0.89168	0.643000	0.83706	CGC		0.602	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		38	205	0	0	0	1	0	38	205				
HPS3	84343	broad.mit.edu	37	3	148880586	148880586	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148880586A>G	ENST00000296051.2	+	13	2542	c.2402A>G	c.(2401-2403)aAa>aGa	p.K801R	HPS3_ENST00000460120.1_Missense_Mutation_p.K636R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	801					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTCTTTTTCAAACTCACATCA	0.453									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2401-2403)aAa>aGa		Hermansky-Pudlak syndrome 3							140.0	135.0	136.0					3																	148880586		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148880586A>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2402A>G	3.37:g.148880586A>G	ENSP00000296051:p.Lys801Arg					HPS3_ENST00000460120.1_Missense_Mutation_p.K636R	p.K801R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	2542	+			801					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2402A>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	3.997	-0.003406	0.07773	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63096	-0.02;-0.02	5.86	5.86	0.93980	.	0.100378	0.64402	D	0.000003	T	0.39911	0.1096	N	0.12746	0.255	0.80722	D	1	B;B	0.22276	0.013;0.067	B;B	0.18263	0.015;0.021	T	0.34453	-0.9828	10	0.10636	T	0.68	-26.16	10.8737	0.46899	0.9213:0.0:0.0787:0.0	.	636;801	G5E9V4;Q969F9	.;HPS3_HUMAN	R	801;636	ENSP00000296051:K801R;ENSP00000418230:K636R	ENSP00000296051:K801R	K	+	2	0	HPS3	150363276	1.000000	0.71417	0.999000	0.59377	0.066000	0.16364	4.735000	0.62051	2.242000	0.73789	0.460000	0.39030	AAA		0.453	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		104	373	0	0	0	1	0	104	373				
CGN	57530	broad.mit.edu	37	1	151493070	151493070	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151493070A>G	ENST00000271636.7	+	5	1177		c.e5-1			NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin						transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATCTCTGGCAGATGGTTTCT	0.552																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.e5-1		cingulin							85.0	78.0	80.0					1																	151493070		2203	4300	6503	SO:0001630	splice_region_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151493070A>G	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1045-1A>G	1.37:g.151493070A>G								NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	1177	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)							A6H8L3|A7MD22|Q5T386|Q9NR25	Splice_Site	SNP	ENST00000271636.7	37		CCDS999.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146167	0.37923	.	.	ENSG00000143375	ENST00000271636	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4399	0.16501	0.7356:0.1773:0.0871:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CGN	149759694	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	5.192000	0.65115	2.192000	0.70111	0.533000	0.62120	.		0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	Intron	42	123	0	0	0	1	0	42	123				
PTPRS	5802	broad.mit.edu	37	19	5208314	5208314	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5208314A>G	ENST00000587303.1	-	35	5675	c.5576T>C	c.(5575-5577)tTc>tCc	p.F1859S	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S|PTPRS_ENST00000372412.4_Missense_Mutation_p.F1860S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1859	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTGGCCAATGAAGTCGATGAA	0.592																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5578-5580)tTc>tCc		protein tyrosine phosphatase, receptor type, S							119.0	104.0	109.0					19																	5208314		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5208314A>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5576T>C	19.37:g.5208314A>G	ENSP00000467537:p.Phe1859Ser					PTPRS_ENST00000587303.1_Missense_Mutation_p.F1859S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S	p.F1860S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	36	5812	-			1859			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5579T>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.021149	0.54576	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	2.89	2.89	0.33648	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	T	0.56963	0.2021	H	0.97186	3.955	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	0.998;0.994;1.0;0.997;1.0;0.999	T	0.68364	-0.5428	10	0.87932	D	0	.	10.2806	0.43537	1.0:0.0:0.0:0.0	.	1441;1412;1416;1821;1859;1454	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	1454;1860;1859;1859;1850;1839;1821;1441;1416;1412	ENSP00000361489:F1860S;ENSP00000349932:F1859S;ENSP00000262963:F1839S;ENSP00000269907:F1821S;ENSP00000327313:F1412S	ENSP00000262963:F1839S	F	-	2	0	PTPRS	5159314	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.946000	0.92992	1.199000	0.43173	0.235000	0.17854	TTC		0.592	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			40	225	0	0	0	1	0	40	225				
ZNF813	126017	broad.mit.edu	37	19	53994876	53994876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53994876G>A	ENST00000396403.4	+	4	1518	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATATTGGAGAGAAACGTTA	0.413																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(1390-1392)Gag>Aag		zinc finger protein 813							65.0	69.0	68.0					19																	53994876		2196	4294	6490	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994876G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1390G>A	19.37:g.53994876G>A	ENSP00000379684:p.Glu464Lys					ZNF813_ENST00000396421.4_Intron	p.E464K	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1518	+			464						Missense_Mutation	SNP	ENST00000396403.4	37	c.1390G>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.099648	0.56183	.	.	ENSG00000198346	ENST00000396403	T	0.24350	1.86	1.32	-9.08E-4	0.14036	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33876	0.0878	L	0.47716	1.5	0.80722	D	1	D	0.54772	0.968	P	0.61592	0.891	T	0.18967	-1.0320	9	0.72032	D	0.01	.	6.6592	0.23004	0.1881:0.0:0.8119:0.0	.	464	Q6ZN06	ZN813_HUMAN	K	464	ENSP00000379684:E464K	ENSP00000379684:E464K	E	+	1	0	ZNF813	58686688	0.987000	0.35691	0.201000	0.23476	0.035000	0.12851	3.279000	0.51670	0.461000	0.27071	0.197000	0.17608	GAG		0.413	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		55	283	0	0	0	1	0	55	283				
AMTN	401138	broad.mit.edu	37	4	71384505	71384505	+	Missense_Mutation	SNP	C	C	T	rs374431307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71384505C>T	ENST00000339336.4	+	2	141	c.11C>T	c.(10-12)aCg>aTg	p.T4M	AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	4					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ATGAGGAGTACGATTCTACTG	0.338																																						ENST00000339336.4																			0				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19						c.(10-12)aCg>aTg		amelotin		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	232.0	215.0	221.0		11	-6.8	0.0	4		221	0,8600		0,0,4300	no	missense	AMTN	NM_212557.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	4/210	71384505	1,13005	2203	4300	6503	SO:0001583	missense	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71384505C>T	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.11C>T	4.37:g.71384505C>T	ENSP00000341013:p.Thr4Met					AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	p.T4M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		2	141	+			4					Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	c.11C>T	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101948	0.01828	2.27E-4	0.0	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.30714	1.52;1.52	5.76	-6.78	0.01721	.	2.215910	0.01532	N	0.018838	T	0.18551	0.0445	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.25257	-1.0137	10	0.29301	T	0.29	15.6161	16.5503	0.84471	0.0:0.3278:0.0:0.6722	.	4;4	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	M	4	ENSP00000341013:T4M;ENSP00000422452:T4M	ENSP00000341013:T4M	T	+	2	0	AMTN	71419094	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.921000	0.01569	-2.864000	0.00326	-1.814000	0.00607	ACG		0.338	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		83	433	0	0	0	1	0	83	433				
JAK2	3717	broad.mit.edu	37	9	5069022	5069022	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5069022C>T	ENST00000381652.3	+	11	1821	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	JAK2_ENST00000544510.1_Splice_Site_p.R294*|JAK2_ENST00000539801.1_Splice_Site_p.R443*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	443	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACTTATACAGCGAGAAAATGT	0.328		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.e11-1		Janus kinase 2							52.0	58.0	56.0					9																	5069022		2203	4299	6502	SO:0001630	splice_region_variant	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5069022C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1327-1C>T	9.37:g.5069022C>T						JAK2_ENST00000544510.1_Splice_Site_p.R294_splice|JAK2_ENST00000539801.1_Splice_Site_p.R443_splice	p.R443_splice	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	11	1821	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	443			SH2; atypical.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.	O14636|O75297	Splice_Site	SNP	ENST00000381652.3	37	c.1326_splice	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	40	8.190073	0.98699	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.02	2.04	0.26737	.	0.488046	0.20689	N	0.087500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4355	14.0004	0.64431	0.3937:0.6063:0.0:0.0	.	.	.	.	X	443;443;294	.	.	R	+	1	2	JAK2	5059022	0.998000	0.40836	0.984000	0.44739	0.963000	0.63663	0.477000	0.22196	0.111000	0.17947	0.591000	0.81541	CGA		0.328	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		Nonsense_Mutation	28	213	0	0	0	1	0	28	213				
PKD1	5310	broad.mit.edu	37	16	2143020	2143020	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2143020G>A	ENST00000262304.4	-	38	11299	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H|MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3697					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACGGTAGGCGTGCCCATGGC	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11089-11091)caC>caT		polycystic kidney disease 1 (autosomal dominant)							107.0	107.0	107.0					16																	2143020		2198	4299	6497	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143020G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11091C>T	16.37:g.2143020G>A						RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H	p.H3697H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			38	11299	-			3697					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.11091C>T	CCDS32369.1																																																																																				0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			33	845	0	0	0	1	0	33	845				
OR6K2	81448	broad.mit.edu	37	1	158669909	158669909	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669909A>G	ENST00000359610.2	-	1	577	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGAGGAAGTCACAGAAGATAT	0.478																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(532-534)tgT>tgC		olfactory receptor, family 6, subfamily K, member 2							130.0	111.0	117.0					1																	158669909		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669909A>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.534T>C	1.37:g.158669909A>G							p.C178C	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	577	-	all_hematologic(112;0.0378)		178					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.534T>C	CCDS30902.1																																																																																				0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		116	339	0	0	0	1	0	116	339				
GALNT8	26290	broad.mit.edu	37	12	4874633	4874633	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4874633G>T	ENST00000252318.2	+	10	2019	c.1682G>T	c.(1681-1683)gGc>gTc	p.G561V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	561	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACAGACCCTGGCAAGGCGGAG	0.448																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1681-1683)gGc>gTc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							115.0	110.0	112.0					12																	4874633		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874633G>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1682G>T	12.37:g.4874633G>T	ENSP00000252318:p.Gly561Val						p.G561V	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			10	2019	+			561			Ricin B-type lectin.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1682G>T	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467896|1.467896	0.26335|0.26335	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000542998;ENST00000535354|ENST00000252318	.|T	.|0.35973	.|1.28	4.19|4.19	3.28|3.28	0.37604|0.37604	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57213|0.57213	0.2038|0.2038	M|M	0.79258|0.79258	2.445|2.445	0.37228|0.37228	D|D	0.905561|0.905561	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.64377|0.64377	-0.6422|-0.6422	5|10	.|0.62326	.|D	.|0.03	.|.	9.7348|9.7348	0.40382|0.40382	0.0:0.2109:0.7891:0.0|0.0:0.2109:0.7891:0.0	.|.	.|561	.|Q9NY28	.|GALT8_HUMAN	S|V	78;57|561	.|ENSP00000252318:G561V	.|ENSP00000252318:G561V	A|G	+|+	1|2	0|0	GALNT8|GALNT8	4744894|4744894	1.000000|1.000000	0.71417|0.71417	0.279000|0.279000	0.24732|0.24732	0.046000|0.046000	0.14306|0.14306	4.814000|4.814000	0.62627|0.62627	0.947000|0.947000	0.37659|0.37659	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.448	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		51	212	1	0	4.25531e-23	1	4.83061e-23	51	212				
NELL2	4753	broad.mit.edu	37	12	45105088	45105088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45105088G>A	ENST00000429094.2	-	11	1680	c.1176C>T	c.(1174-1176)tgC>tgT	p.C392C	NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000437801.2_Silent_p.C442C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000551601.1_Silent_p.C391C|NELL2_ENST00000395487.2_Silent_p.C391C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	392						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACAAACTTTGCAACAGCTGT	0.388																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1174-1176)tgC>tgT		NEL-like 2 (chicken)							114.0	105.0	108.0					12																	45105088		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45105088G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1176C>T	12.37:g.45105088G>A						NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000551601.1_Silent_p.C391C|NELL2_ENST00000395487.2_Silent_p.C391C|NELL2_ENST00000437801.2_Silent_p.C442C	p.C392C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	11	1680	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	392			VWFC 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1176C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122990	0.20959	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	T	0.76652	0.4017	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74331	-0.3700	4	.	.	.	-14.136	20.0473	0.97613	0.0:0.0:1.0:0.0	.	.	.	.	V	136	.	.	A	-	2	0	NELL2	43391355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.307000	0.51888	2.722000	0.93159	0.655000	0.94253	GCA		0.388	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		54	246	0	0	0	1	0	54	246				
MUC17	140453	broad.mit.edu	37	7	100679840	100679840	+	Missense_Mutation	SNP	G	G	A	rs149023842	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100679840G>A	ENST00000306151.4	+	3	5207	c.5143G>A	c.(5143-5145)Gtt>Att	p.V1715I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1715	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCCGTTGACAACAG	0.468													g|||	4	0.000798722	0.0	0.0029	5008	,	,		24906	0.0		0.002	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5143-5145)Gtt>Att		mucin 17, cell surface associated		G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	216.0	226.0	222.0		5143	-1.4	0.0	7	dbSNP_134	222	23,8577	16.0+/-53.3	1,21,4278	no	missense	MUC17	NM_001040105.1	29	1,24,6478	AA,AG,GG		0.2674,0.0681,0.1999	benign	1715/4494	100679840	26,12980	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679840G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5143G>A	7.37:g.100679840G>A	ENSP00000302716:p.Val1715Ile						p.V1715I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5207	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1715			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5143G>A	CCDS34711.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	3.260	-0.151386	0.06585	6.81E-4	0.002674	ENSG00000169876	ENST00000306151	T	0.02103	4.45	1.19	-1.39	0.08997	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.25609	0.13	B	0.09377	0.004	T	0.47649	-0.9101	9	0.30078	T	0.28	.	4.7501	0.13056	0.3491:0.0:0.6509:0.0	.	1715	Q685J3	MUC17_HUMAN	I	1715	ENSP00000302716:V1715I	ENSP00000302716:V1715I	V	+	1	0	MUC17	100466560	0.063000	0.20901	0.000000	0.03702	0.004000	0.04260	1.975000	0.40569	-0.376000	0.07943	0.134000	0.15878	GTT		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		412	1578	0	0	0	1	0	412	1578				
LYST	1130	broad.mit.edu	37	1	235952092	235952092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235952092C>T	ENST00000389794.3	-	13	4771	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	LYST_ENST00000389793.2_Missense_Mutation_p.E1533K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1533					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATCCTTCTTCTATGAGTCTT	0.393																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4597-4599)Gaa>Aaa		lysosomal trafficking regulator							100.0	90.0	93.0					1																	235952092		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235952092C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4597G>A	1.37:g.235952092C>T	ENSP00000374444:p.Glu1533Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E1533K|LYST_ENST00000536965.1_3'UTR	p.E1533K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		13	4771	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1533					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4597G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288043	0.95517	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62232	0.04;0.04	5.49	5.49	0.81192	.	5.737730	0.00166	N	0.000009	T	0.76054	0.3934	L	0.56769	1.78	0.80722	D	1	D	0.58268	0.982	P	0.52909	0.713	T	0.61691	-0.7011	10	0.48119	T	0.1	.	17.5709	0.87934	0.0:1.0:0.0:0.0	.	1533	Q99698	LYST_HUMAN	K	1533	ENSP00000374444:E1533K;ENSP00000374443:E1533K	ENSP00000374443:E1533K	E	-	1	0	LYST	234018715	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.646000	0.74348	2.585000	0.87301	0.563000	0.77884	GAA		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			58	159	0	0	0	1	0	58	159				
OPRL1	4987	broad.mit.edu	37	20	62729818	62729818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729818G>A	ENST00000349451.3	+	6	1191	c.779G>A	c.(778-780)cGc>cAc	p.R260H	OPRL1_ENST00000336866.2_Missense_Mutation_p.R260H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R260H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	260					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AACCTGCGGCGCATCACTCGG	0.667																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(778-780)cGc>cAc		opiate receptor-like 1							95.0	85.0	88.0					20																	62729818		2203	4299	6502	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729818G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.779G>A	20.37:g.62729818G>A	ENSP00000336764:p.Arg260His					OPRL1_ENST00000355631.4_Missense_Mutation_p.R260H|OPRL1_ENST00000336866.2_Missense_Mutation_p.R260H	p.R260H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1191	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		260					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.779G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064555	0.93898	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.43688	0.94;0.94;0.94	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79808	-0.1647	10	0.87932	D	0	.	17.7855	0.88536	0.0:0.0:1.0:0.0	.	255;260	P41146-2;P41146	.;OPRX_HUMAN	H	260	ENSP00000336843:R260H;ENSP00000347848:R260H;ENSP00000336764:R260H	ENSP00000336843:R260H	R	+	2	0	OPRL1	62200262	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.785000	0.85724	2.193000	0.70182	0.500000	0.49745	CGC		0.667	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		19	476	0	0	0	1	0	19	476				
MYO9A	4649	broad.mit.edu	37	15	72338363	72338363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72338363C>A	ENST00000356056.5	-	2	1014	c.542G>T	c.(541-543)aGt>aTt	p.S181I	MYO9A_ENST00000564571.1_Missense_Mutation_p.S181I|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	181	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTAGAATACTGCCAACATA	0.323																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(541-543)aGt>aTt		myosin IXA							65.0	70.0	68.0					15																	72338363		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338363C>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.542G>T	15.37:g.72338363C>A	ENSP00000348349:p.Ser181Ile					MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000564571.1_Missense_Mutation_p.S181I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I	p.S181I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1014	-			181			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.542G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	18.62	3.662272	0.67700	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87179	-2.22;-2.22;-2.22	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.90696	0.7081	L	0.43598	1.365	0.58432	D	0.999995	P;D;D	0.63046	0.948;0.975;0.992	P;P;D	0.70487	0.759;0.861;0.969	D	0.91177	0.4973	9	0.87932	D	0	.	15.587	0.76491	0.0:0.863:0.137:0.0	.	181;181;181	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	181	ENSP00000348349:S181I;ENSP00000399162:S181I;ENSP00000398250:S181I	ENSP00000261864:S181I	S	-	2	0	MYO9A	70125417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.832000	0.55783	2.749000	0.94314	0.650000	0.86243	AGT		0.323	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		78	294	1	0	1.15098e-32	1	1.36004e-32	78	294				
TCERG1	10915	broad.mit.edu	37	5	145849225	145849225	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849225A>C	ENST00000296702.5	+	7	1355	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	439	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAATATAAAACAGCAGATG	0.393																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1315-1317)aaA>aaC		transcription elongation regulator 1							123.0	137.0	132.0					5																	145849225		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145849225A>C	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1317A>C	5.37:g.145849225A>C	ENSP00000296702:p.Lys439Asn					TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	p.K439N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1355	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	439			WW 2.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1317A>C	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047626	0.55110	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.82526	-1.62;-1.62	5.71	2.04	0.26737	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.62209	1.925	0.54753	D	0.99998	D;D;D	0.76494	0.999;0.989;0.991	D;D;D	0.85130	0.997;0.978;0.987	D	0.85526	0.1206	10	0.72032	D	0.01	-21.9365	9.2165	0.37351	0.7945:0.0:0.2055:0.0	.	418;418;439	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	439;418	ENSP00000296702:K439N;ENSP00000377943:K418N	ENSP00000296702:K439N	K	+	3	2	TCERG1	145829418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.265000	0.33027	0.119000	0.18210	0.460000	0.39030	AAA		0.393	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		196	838	0	0	0	1	0	196	838				
BIRC6	57448	broad.mit.edu	37	2	32673997	32673997	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673997G>A	ENST00000421745.2	+	22	4752		c.e22+1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCCTTTCAGGTAGTGATTTC	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e22+1		baculoviral IAP repeat containing 6							95.0	99.0	98.0					2																	32673997		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32673997G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4618+1G>A	2.37:g.32673997G>A								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			22	4752	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145565	0.77888	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2619	0.87072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32527501	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.754000	0.98908	2.574000	0.86865	0.585000	0.79938	.		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	67	188	0	0	0	1	0	67	188				
LITAF	9516	broad.mit.edu	37	16	11650327	11650327	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11650327G>A	ENST00000571688.1	-	2	451				LITAF_ENST00000572255.1_Intron|LITAF_ENST00000574763.1_Intron|LITAF_ENST00000574703.1_Missense_Mutation_p.A87V|LITAF_ENST00000339430.5_Intron|LITAF_ENST00000571976.1_Intron|LITAF_ENST00000570904.1_Intron|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000413364.2_Intron|LITAF_ENST00000381810.3_Intron|LITAF_ENST00000576036.1_Intron	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor						aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						AGGGTGGAGGGCCAAGGAATG	0.527																																						ENST00000574703.1																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						c.(259-261)gCc>gTc		lipopolysaccharide-induced TNF factor							36.0	34.0	35.0					16																	11650327		2197	4300	6497	SO:0001627	intron_variant	9516				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding	g.chr16:11650327G>A	AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.220+39C>T	16.37:g.11650327G>A						LITAF_ENST00000576036.1_Intron|LITAF_ENST00000381810.3_Intron|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000571976.1_Intron|LITAF_ENST00000571688.1_Intron|LITAF_ENST00000339430.5_Intron|LITAF_ENST00000570904.1_Intron|LITAF_ENST00000413364.2_Intron|LITAF_ENST00000574763.1_Intron	p.A87V			Q99732	LITAF_HUMAN			2	298	-			0					D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Missense_Mutation	SNP	ENST00000571688.1	37	c.260C>T	CCDS32386.1																																																																																				0.527	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862		19	39	0	0	0	1	0	19	39				
RBM28	55131	broad.mit.edu	37	7	127970908	127970908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127970908G>A	ENST00000223073.2	-	10	1207	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	365	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAGACAATGCGGACATATTTG	0.468																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1093-1095)Cgc>Tgc		RNA binding motif protein 28							119.0	106.0	111.0					7																	127970908		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127970908G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1093C>T	7.37:g.127970908G>A	ENSP00000223073:p.Arg365Cys					RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	p.R365C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			10	1207	-			365			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1093C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300519	0.40694	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.18810	2.19;2.19	5.52	1.76	0.24704	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.390886	0.25478	N	0.030399	T	0.23846	0.0577	M	0.88310	2.945	0.44289	D	0.997157	B;B	0.33022	0.394;0.044	B;B	0.27796	0.083;0.016	T	0.04229	-1.0967	10	0.54805	T	0.06	-0.0962	3.7697	0.08636	0.3412:0.0:0.4973:0.1615	.	224;365	E9PDD9;Q9NW13	.;RBM28_HUMAN	C	365;224	ENSP00000223073:R365C;ENSP00000390517:R224C	ENSP00000223073:R365C	R	-	1	0	RBM28	127758144	0.962000	0.33011	0.979000	0.43373	0.986000	0.74619	1.934000	0.40163	0.313000	0.23062	0.655000	0.94253	CGC		0.468	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		71	326	0	0	0	1	0	71	326				
NCAM2	4685	broad.mit.edu	37	21	22804437	22804437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22804437C>T	ENST00000400546.1	+	12	1739	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	497					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACGTGCCATCCAGTCCCTAT	0.443																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1489-1491)tCc>tTc		neural cell adhesion molecule 2							62.0	59.0	60.0					21																	22804437		1924	4136	6060	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804437C>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1490C>T	21.37:g.22804437C>T	ENSP00000383392:p.Ser497Phe					NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	p.S497F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1739	+		Lung NSC(9;0.195)	497			Fibronectin type-III 1.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1490C>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959169	0.74016	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.58797	0.31;0.31	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.85261	0.1050	10	0.87932	D	0	-10.8145	16.9239	0.86170	0.0:1.0:0.0:0.0	.	355;497	B7Z5K2;O15394	.;NCAM2_HUMAN	F	497;355	ENSP00000383392:S497F;ENSP00000284894:S355F	ENSP00000284894:S355F	S	+	2	0	NCAM2	21726308	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	6.249000	0.72427	2.328000	0.79073	0.505000	0.49811	TCC		0.443	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		35	200	0	0	0	1	0	35	200				
CIT	11113	broad.mit.edu	37	12	120168356	120168356	+	Missense_Mutation	SNP	C	C	T	rs146605071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120168356C>T	ENST00000261833.7	-	26	3356	c.3304G>A	c.(3304-3306)Gct>Act	p.A1102T	CIT_ENST00000392521.2_Missense_Mutation_p.A1144T|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1102	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCTGCAGAGCGAGAATCTCA	0.562																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(3430-3432)Gct>Act		citron (rho-interacting, serine/threonine kinase 21)		C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	57.0	52.0	54.0		3430,3304	5.4	0.7	12	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	58,58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	1144/2070,1102/2028	120168356	3,13003	2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120168356C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3304G>A	12.37:g.120168356C>T	ENSP00000261833:p.Ala1102Thr					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A1102T	p.A1144T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	27	3485	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1102			Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3430G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437072	0.62955	4.54E-4	1.16E-4	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	T;T;T	0.65549	-0.1;-0.16;1.56	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	N	0.24115	0.695	0.58432	D	0.999999	D;D;P	0.63046	0.992;0.983;0.494	B;B;B	0.42882	0.401;0.204;0.056	T	0.49835	-0.8897	10	0.25106	T	0.35	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1144;1102;635	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1144;1102;144	ENSP00000376306:A1144T;ENSP00000261833:A1102T;ENSP00000446105:A144T	ENSP00000261833:A1102T	A	-	1	0	CIT	118652739	1.000000	0.71417	0.675000	0.29917	0.574000	0.36063	6.026000	0.70873	2.550000	0.86006	0.655000	0.94253	GCT		0.562	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		42	150	0	0	0	1	0	42	150				
ATXN2L	11273	broad.mit.edu	37	16	28841994	28841994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28841994C>T	ENST00000336783.4	+	9	1260	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	365					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.R365*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGAGGAGTTCGATGCAGCAG	0.612																																						ENST00000336783.4																			2	Substitution - Nonsense(2)	p.R365*(2)	large_intestine(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1093-1095)Cga>Tga		ataxin 2-like							43.0	43.0	43.0					16																	28841994		2197	4300	6497	SO:0001587	stop_gained	11273					membrane		g.chr16:28841994C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1093C>T	16.37:g.28841994C>T	ENSP00000338718:p.Arg365*					ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*	p.R365*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			9	1260	+			365					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	ENST00000336783.4	37	c.1093C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	38	6.843414	0.97881	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.4591	13.743	0.62860	0.154:0.8459:0.0:0.0	.	.	.	.	X	365	.	ENSP00000315650:R365X	R	+	1	2	ATXN2L	28749495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.657000	0.46724	2.750000	0.94351	0.563000	0.77884	CGA		0.612	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		62	231	0	0	0	1	0	62	231				
ATP1A2	477	broad.mit.edu	37	1	160099109	160099109	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160099109C>A	ENST00000361216.3	+	11	1469	c.1380C>A	c.(1378-1380)ctC>ctA	p.L460L	ATP1A2_ENST00000392233.3_Silent_p.L460L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	460					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATTGAGCTCTCCTGTGGCT	0.532																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1378-1380)ctC>ctA		ATPase, Na+/K+ transporting, alpha 2 polypeptide							163.0	159.0	160.0					1																	160099109		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160099109C>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1380C>A	1.37:g.160099109C>A						ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L460L	p.L460L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		11	1469	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		460					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1380C>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025685	0.19512	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.66	0.412	0.16397	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29181	-1.0020	4	.	.	.	.	7.7827	0.29074	0.154:0.2517:0.5943:0.0	.	.	.	.	Y	171	.	.	S	+	2	0	ATP1A2	158365733	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.305000	0.19254	0.133000	0.18654	-0.234000	0.12200	TCT		0.532	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		191	865	1	0	2.49235e-71	1	3.16901e-71	191	865				
GMPPA	29926	broad.mit.edu	37	2	220367140	220367140	+	Missense_Mutation	SNP	G	G	A	rs138077680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220367140G>A	ENST00000358215.3	+	6	835	c.466G>A	c.(466-468)Gtt>Att	p.V156I	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I|GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	156			V -> A (in dbSNP:rs13396066).		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)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGGCTGCATCGTTGAGAATCC	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16216	0.0		0.0	False		,,,				2504	0.0					ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(466-468)Gtt>Att		GDP-mannose pyrophosphorylase A		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	79.0	64.0	69.0		466,466	4.5	1.0	2	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GMPPA	NM_013335.3,NM_205847.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	156/421,156/421	220367140	2,13004	2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220367140G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.466G>A	2.37:g.220367140G>A	ENSP00000350949:p.Val156Ile					GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I|GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I	p.V156I	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	6	835	+		Renal(207;0.0183)	156		V -> A (in dbSNP:rs13396066).			A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.466G>A	CCDS2441.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.3	4.997176	0.93167	0.0	2.33E-4	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.46	4.46	0.54185	Nucleotidyl transferase (1);	0.070922	0.56097	D	0.000035	T	0.79387	0.4437	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.62184	0.837;0.899	T	0.81547	-0.0883	10	0.56958	D	0.05	-19.0138	16.7265	0.85423	0.0:0.0:1.0:0.0	.	156;156	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	I	156;156;156;156;156;121;156;86	ENSP00000315925:V156I;ENSP00000363027:V156I;ENSP00000350949:V156I;ENSP00000363016:V156I;ENSP00000392465:V156I;ENSP00000411060:V121I;ENSP00000340760:V156I	ENSP00000315925:V156I	V	+	1	0	GMPPA	220075384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.046000	0.60703	0.561000	0.74099	GTT		0.567	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		22	146	0	0	0	1	0	22	146				
CPE	1363	broad.mit.edu	37	4	166388932	166388932	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166388932C>T	ENST00000402744.4	+	3	877	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	199					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGATAGTGTACGTGAATGAGA	0.418																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(595-597)taC>taT		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						77.0	74.0	75.0					4																	166388932		2203	4300	6503	SO:0001819	synonymous_variant	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166388932C>T	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.597C>T	4.37:g.166388932C>T							p.Y199Y	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	3	877	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	199					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Silent	SNP	ENST00000402744.4	37	c.597C>T	CCDS3810.1																																																																																				0.418	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		12	280	0	0	0	1	0	12	280				
MYO5B	4645	broad.mit.edu	37	18	47398552	47398552	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47398552G>T	ENST00000285039.7	-	27	3887	c.3588C>A	c.(3586-3588)gcC>gcA	p.A1196A	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.A337A|Y_RNA_ENST00000364798.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1196					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GACTATTGTAGGCCAGATCTG	0.507																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3586-3588)gcC>gcA		myosin VB							368.0	354.0	358.0					18																	47398552		1946	4133	6079	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47398552G>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3588C>A	18.37:g.47398552G>T						MYO5B_ENST00000324581.6_Silent_p.A337A|MYO5B_ENST00000587895.1_5'UTR	p.A1196A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	27	3887	-			1196					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.3588C>A	CCDS42436.1																																																																																				0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			67	2023	1	0	1.39649e-27	1	1.61833e-27	67	2023				
BANK1	55024	broad.mit.edu	37	4	102751340	102751340	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102751340T>C	ENST00000322953.4	+	2	720	c.446T>C	c.(445-447)gTa>gCa	p.V149A	BANK1_ENST00000504592.1_Missense_Mutation_p.V134A|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.V119A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	149	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TACATCTCTGTAATCCAGAGT	0.323																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(400-402)gTa>gCa		B-cell scaffold protein with ankyrin repeats 1							55.0	60.0	58.0					4																	102751340		2193	4297	6490	SO:0001583	missense	55024				B cell activation			g.chr4:102751340T>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.446T>C	4.37:g.102751340T>C	ENSP00000320509:p.Val149Ala					BANK1_ENST00000444316.2_Missense_Mutation_p.V119A|BANK1_ENST00000322953.4_Missense_Mutation_p.V149A|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron	p.V134A			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	6	819	+		Hepatocellular(203;0.217)	149			Interaction with ITPR2.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.401T>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896933	0.33535	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.10005	2.92;2.92;2.92	5.32	5.32	0.75619	.	0.424012	0.20636	N	0.088481	T	0.19446	0.0467	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	T	0.06570	-1.0819	10	0.15499	T	0.54	.	14.4797	0.67573	0.0:0.0:0.0:1.0	.	149;134	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	A	134;149;119	ENSP00000421443:V134A;ENSP00000320509:V149A;ENSP00000388817:V119A	ENSP00000320509:V149A	V	+	2	0	BANK1	102970363	0.923000	0.31300	0.808000	0.32385	0.974000	0.67602	2.253000	0.43205	2.006000	0.58801	0.528000	0.53228	GTA		0.323	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		72	280	0	0	0	1	0	72	280				
SALL4	57167	broad.mit.edu	37	20	50408810	50408810	+	Missense_Mutation	SNP	G	G	A	rs374255657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50408810G>A	ENST00000217086.4	-	2	323	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.T71M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	71					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGACGTGCGTCTCCTCCCG	0.488																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(211-213)aCg>aTg		spalt-like transcription factor 4		G	MET/THR	0,4406		0,0,2203	60.0	61.0	61.0		212	5.5	0.1	20		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	SALL4	NM_020436.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	71/1054	50408810	1,13005	2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408810G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.212C>T	20.37:g.50408810G>A	ENSP00000217086:p.Thr71Met					SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.T71M	p.T71M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	323	-			71					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.212C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759725	0.89932	0.0	1.16E-4	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.50813	0.73;0.73	5.53	5.53	0.82687	.	0.163396	0.29314	N	0.012505	T	0.73140	0.3549	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.94	T	0.77496	-0.2566	10	0.87932	D	0	-27.7113	19.4467	0.94851	0.0:0.0:1.0:0.0	.	71;71	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	M	71	ENSP00000217086:T71M;ENSP00000379319:T71M	ENSP00000217086:T71M	T	-	2	0	SALL4	49842217	1.000000	0.71417	0.068000	0.19968	0.102000	0.19082	7.635000	0.83286	2.582000	0.87167	0.655000	0.94253	ACG		0.488	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			91	295	0	0	0	1	0	91	295				
ZNF667	63934	broad.mit.edu	37	19	56973726	56973726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56973726C>T	ENST00000504904.3	-	4	733	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	ZNF667_ENST00000591790.1_Missense_Mutation_p.R5Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGATTTCCCCCGTGCAGAAGG	0.537																																						ENST00000591790.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(13-15)cGg>cAg		zinc finger protein 667							239.0	196.0	210.0					19																	56973726		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56973726C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.14G>A	19.37:g.56973726C>T	ENSP00000439402:p.Arg5Gln					ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q|ZNF667_ENST00000504904.3_Missense_Mutation_p.R5Q	p.R5Q			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	2	1442	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	5					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.14G>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020736	0.54576	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.05447	3.44;3.49;3.49	4.21	3.17	0.36434	.	0.291293	0.18795	N	0.130960	T	0.03053	0.0090	N	0.12746	0.255	0.09310	N	1	B	0.31503	0.326	B	0.16289	0.015	T	0.45440	-0.9261	10	0.26408	T	0.33	-3.0919	8.5568	0.33487	0.0:0.8876:0.0:0.1124	.	5	Q5HYK9	ZN667_HUMAN	Q	98;5;5	ENSP00000344699:R98Q;ENSP00000439402:R5Q;ENSP00000292069:R5Q	ENSP00000292069:R5Q	R	-	2	0	ZNF667	61665538	0.010000	0.17322	0.005000	0.12908	0.116000	0.19942	0.503000	0.22610	1.087000	0.41251	0.467000	0.42956	CGG		0.537	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		105	640	0	0	0	1	0	105	640				
SEMA3G	56920	broad.mit.edu	37	3	52475298	52475298	+	Silent	SNP	G	G	A	rs546731714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52475298G>A	ENST00000231721.2	-	7	794	c.795C>T	c.(793-795)cgC>cgT	p.R265R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	265	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGCGGCCCACGCGGCTGACAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.001					ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(793-795)cgC>cgT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							62.0	48.0	52.0					3																	52475298		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475298G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.795C>T	3.37:g.52475298G>A							p.R265R	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	7	794	-			265			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.795C>T	CCDS2856.1																																																																																				0.612	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		7	385	0	0	0	1	0	7	385				
FLCN	201163	broad.mit.edu	37	17	17122372	17122372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17122372C>T	ENST00000285071.4	-	9	1477	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	341					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGGCAGCTTCCGGGGCTGCC	0.652									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1021-1023)cgG>cgA		folliculin							37.0	48.0	44.0					17																	17122372		2202	4300	6502	SO:0001819	synonymous_variant	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17122372C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1023G>A	17.37:g.17122372C>T						RP11-45M22.4_ENST00000427497.3_Intron	p.R341R	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			9	1477	-			341					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.1023G>A	CCDS32579.1																																																																																				0.652	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		147	516	0	0	0	1	0	147	516				
STARD8	9754	broad.mit.edu	37	X	67938201	67938201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938201C>A	ENST00000252336.6	+	5	1577	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D	STARD8_ENST00000374597.3_Missense_Mutation_p.A402D|STARD8_ENST00000374599.3_Missense_Mutation_p.A482D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	402					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGGAAGAGGCTGAggccccg	0.687																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(1204-1206)gCt>gAt		StAR-related lipid transfer (START) domain containing 8							10.0	11.0	10.0					X																	67938201		2183	4258	6441	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938201C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1205C>A	X.37:g.67938201C>A	ENSP00000252336:p.Ala402Asp					STARD8_ENST00000374599.3_Missense_Mutation_p.A482D|STARD8_ENST00000374597.3_Missense_Mutation_p.A402D	p.A402D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1577	+			402					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1205C>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	7.956	0.745833	0.15710	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10192	2.9;2.91;2.9	4.05	4.05	0.47172	.	0.746254	0.11133	N	0.596109	T	0.17916	0.0430	L	0.36672	1.1	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.60949	0.881;0.763	T	0.11251	-1.0595	10	0.13853	T	0.58	.	11.3699	0.49694	0.0:1.0:0.0:0.0	.	482;402	Q92502-2;Q92502	.;STAR8_HUMAN	D	402;482;402	ENSP00000252336:A402D;ENSP00000363727:A482D;ENSP00000363725:A402D	ENSP00000252336:A402D	A	+	2	0	STARD8	67854926	0.231000	0.23751	0.019000	0.16419	0.024000	0.10985	0.871000	0.28023	1.959000	0.56917	0.600000	0.82982	GCT		0.687	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		16	105	1	0	2.62699e-14	1	2.8508e-14	16	105				
IARS	3376	broad.mit.edu	37	9	95043153	95043153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95043153A>C	ENST00000375643.3	-	7	886	c.620T>G	c.(619-621)tTt>tGt	p.F207C	IARS_ENST00000375629.3_De_novo_Start_OutOfFrame|IARS_ENST00000443024.2_Missense_Mutation_p.F207C|IARS_ENST00000447699.2_Missense_Mutation_p.F97C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	207					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GAAAGTTACAAATACTGAAGG	0.368																																						ENST00000375629.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35								isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						76.0	70.0	72.0					9																	95043153		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95043153A>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.620T>G	9.37:g.95043153A>C	ENSP00000364794:p.Phe207Cys					IARS_ENST00000447699.2_Missense_Mutation_p.F97C|IARS_ENST00000375643.3_Missense_Mutation_p.F207C|IARS_ENST00000443024.2_Missense_Mutation_p.F207C				P41252	SYIC_HUMAN			0	699	-								A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Translation_Start_Site	SNP	ENST00000375643.3	37		CCDS6694.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508576	0.85282	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.41	5.41	0.78517	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.052475	0.64402	D	0.000001	D	0.87305	0.6144	M	0.85099	2.735	0.80722	D	1	P;P	0.52170	0.903;0.951	P;P	0.58520	0.796;0.84	D	0.89453	0.3731	10	0.87932	D	0	-22.2468	14.7139	0.69254	1.0:0.0:0.0:0.0	.	207;52	P41252;Q6P0M4	SYIC_HUMAN;.	C	207;207;97;207;207	ENSP00000364794:F207C;ENSP00000406448:F207C;ENSP00000415020:F97C;ENSP00000378922:F207C	ENSP00000364794:F207C	F	-	2	0	IARS	94082974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.756000	0.62205	2.169000	0.68431	0.533000	0.62120	TTT		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		7	176	0	0	0	1	0	7	176				
ENAM	10117	broad.mit.edu	37	4	71510303	71510303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510303C>A	ENST00000396073.3	+	9	3441	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1054					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAACATTCTGCATTTGCCATG	0.458																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(3160-3162)Cat>Aat		enamelin							113.0	101.0	105.0					4																	71510303		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510303C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3160C>A	4.37:g.71510303C>A	ENSP00000379383:p.His1054Asn					ENAM_ENST00000472903.1_Intron	p.H1054N	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3441	+			1054					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3160C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.472	1.095920	0.20552	.	.	ENSG00000132464	ENST00000396073	T	0.28666	1.6	5.95	0.457	0.16661	.	1.115720	0.06709	N	0.772753	T	0.22322	0.0538	N	0.22421	0.69	0.09310	N	1	B	0.32101	0.356	B	0.33196	0.159	T	0.35151	-0.9800	10	0.59425	D	0.04	0.5967	8.4848	0.33065	0.6254:0.2979:0.0:0.0767	.	1054	Q9NRM1	ENAM_HUMAN	N	1054	ENSP00000379383:H1054N	ENSP00000379383:H1054N	H	+	1	0	ENAM	71729167	0.031000	0.19500	0.080000	0.20451	0.656000	0.38851	0.220000	0.17660	0.265000	0.21872	0.655000	0.94253	CAT		0.458	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		71	325	1	0	4.37588e-27	1	5.05892e-27	71	325				
ZNHIT3	9326	broad.mit.edu	37	17	34849821	34849821	+	Missense_Mutation	SNP	G	G	A	rs373839162		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34849821G>A	ENST00000225410.4	+	4	322	c.257G>A	c.(256-258)aGa>aAa	p.R86K	RNA5SP439_ENST00000517103.1_RNA|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R86K	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	86					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GAAGAAGACAGAGTTTCTTTG	0.353																																					Pancreas(89;112 2361 26810)	ENST00000225410.4																			0				lung(1)|pancreas(1)|prostate(1)	3						c.(256-258)aGa>aAa		zinc finger, HIT-type containing 3		G	LYS/ARG	0,4406		0,0,2203	147.0	145.0	146.0		257	6.0	1.0	17		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNHIT3	NM_004773.2	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	86/156	34849821	1,13005	2203	4300	6503	SO:0001583	missense	9326				regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	g.chr17:34849821G>A	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"""Zinc fingers, HIT-type"""	12309	protein-coding gene	gene with protein product		604500	"""thyroid hormone receptor interactor 3"", ""zinc finger, HIT type 3"""	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.257G>A	17.37:g.34849821G>A	ENSP00000225410:p.Arg86Lys					ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R86K|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000590858.1_Intron	p.R86K	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	4	322	+		Breast(25;0.00957)|Ovarian(249;0.17)	86					A8K493|K7EQP1|Q8WVJ3	Missense_Mutation	SNP	ENST00000225410.4	37	c.257G>A	CCDS11312.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250359	0.59212	0.0	1.16E-4	ENSG00000108278	ENST00000225410	.	.	.	6.02	6.02	0.97574	.	0.040436	0.85682	D	0.000000	T	0.41696	0.1170	L	0.46741	1.465	0.80722	D	1	P	0.48503	0.911	B	0.39185	0.293	T	0.43637	-0.9379	9	0.02654	T	1	-16.3055	16.0408	0.80680	0.0:0.0:1.0:0.0	.	86	Q15649	ZNHI3_HUMAN	K	86	.	ENSP00000225410:R86K	R	+	2	0	ZNHIT3	31923934	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.606000	0.54095	2.865000	0.98341	0.655000	0.94253	AGA		0.353	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773		13	527	0	0	0	1	0	13	527				
TIMD4	91937	broad.mit.edu	37	5	156381524	156381524	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156381524T>G	ENST00000274532.2	-	2	358	c.302A>C	c.(301-303)aAc>aCc	p.N101T	TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	101	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACTGGGGTTTAAGATGGT	0.493																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(301-303)aAc>aCc		T-cell immunoglobulin and mucin domain containing 4							105.0	93.0	97.0					5																	156381524		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381524T>G	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.302A>C	5.37:g.156381524T>G	ENSP00000274532:p.Asn101Thr					TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	p.N101T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	358	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	101			Ig-like V-type.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.302A>C	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.415032	0.62511	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.03717	3.83;3.83	5.54	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.415179	0.23091	N	0.052024	T	0.13841	0.0335	M	0.87097	2.86	0.09310	N	1	D;D	0.53619	0.961;0.961	P;P	0.52627	0.704;0.704	T	0.07290	-1.0780	10	0.66056	D	0.02	-12.6664	10.9502	0.47325	0.0:0.074:0.0:0.926	.	101;101	B5MCL9;Q96H15	.;TIMD4_HUMAN	T	101	ENSP00000274532:N101T;ENSP00000385973:N101T	ENSP00000274532:N101T	N	-	2	0	TIMD4	156314102	0.201000	0.23410	0.019000	0.16419	0.012000	0.07955	3.545000	0.53648	0.935000	0.37341	0.533000	0.62120	AAC		0.493	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		60	263	0	0	0	1	0	60	263				
SIAH2	6478	broad.mit.edu	37	3	150460089	150460089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460089G>A	ENST00000312960.3	-	2	1341	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	272	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCAATCTCCGCCGGTTCCCA	0.567																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(814-816)Cgg>Tgg		siah E3 ubiquitin protein ligase 2							91.0	72.0	78.0					3																	150460089		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460089G>A	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.814C>T	3.37:g.150460089G>A	ENSP00000322457:p.Arg272Trp						p.R272W	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1341	-			272			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.814C>T	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039982	0.75732	.	.	ENSG00000181788	ENST00000312960	T	0.27256	1.68	5.81	3.95	0.45737	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.93939	3.475	0.49213	D	0.999767	D	0.89917	1.0	D	0.97110	1.0	T	0.71374	-0.4612	10	0.72032	D	0.01	.	14.2055	0.65732	0.0:0.0:0.4393:0.5607	.	272	O43255	SIAH2_HUMAN	W	272	ENSP00000322457:R272W	ENSP00000322457:R272W	R	-	1	2	SIAH2	151942779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.206000	0.51098	0.726000	0.32339	0.591000	0.81541	CGG		0.567	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		51	253	0	0	0	1	0	51	253				
AADACL2	344752	broad.mit.edu	37	3	151451884	151451884	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151451884A>G	ENST00000356517.3	+	1	170	c.61A>G	c.(61-63)Aca>Gca	p.T21A		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	21						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCATTTTTACACACCCATGCC	0.383																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(61-63)Aca>Gca		arylacetamide deacetylase-like 2							135.0	131.0	133.0					3																	151451884		2203	4300	6503	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151451884A>G	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.61A>G	3.37:g.151451884A>G	ENSP00000348911:p.Thr21Ala						p.T21A	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	170	+			21					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.61A>G	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057794	0.36277	.	.	ENSG00000197953	ENST00000356517	T	0.04502	3.61	5.17	0.0266	0.14151	.	.	.	.	.	T	0.03651	0.0104	L	0.38175	1.15	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.45116	-0.9283	9	0.25751	T	0.34	-1.3311	3.274	0.06892	0.553:0.0:0.2783:0.1687	.	21	Q6P093	ADCL2_HUMAN	A	21	ENSP00000348911:T21A	ENSP00000348911:T21A	T	+	1	0	AADACL2	152934574	0.033000	0.19621	0.002000	0.10522	0.151000	0.21798	0.389000	0.20751	0.442000	0.26555	0.533000	0.62120	ACA		0.383	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		32	180	0	0	0	1	0	32	180				
GCK	2645	broad.mit.edu	37	7	44187283	44187283	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44187283C>T	ENST00000403799.3	-	7	1298	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GCK_ENST00000395796.3_Missense_Mutation_p.V276M|GCK_ENST00000437084.1_Missense_Mutation_p.V260M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	277	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCTCGTCCACCAGGCGGTCA	0.682																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(829-831)Gtg>Atg		glucokinase (hexokinase 4)							65.0	66.0	66.0					7																	44187283		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44187283C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.829G>A	7.37:g.44187283C>T	ENSP00000384247:p.Val277Met					GCK_ENST00000437084.1_Missense_Mutation_p.V260M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M|GCK_ENST00000395796.3_Missense_Mutation_p.V276M	p.V277M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			7	1298	-			277					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.829G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967824	0.92855	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.5	5.5	0.81552	Hexokinase, C-terminal (1);	0.121200	0.56097	D	0.000035	D	0.97173	0.9076	L	0.58925	1.835	0.54753	D	0.999986	D;P;P	0.53885	0.963;0.803;0.954	P;P;P	0.58266	0.836;0.532;0.747	D	0.97189	0.9856	10	0.52906	T	0.07	-39.9831	18.9928	0.92800	0.0:1.0:0.0:0.0	.	277;278;276	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	M	277;276;278;260	ENSP00000384247:V277M;ENSP00000379142:V276M;ENSP00000223366:V278M;ENSP00000402840:V260M	ENSP00000223366:V278M	V	-	1	0	GCK	44153808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.954000	0.56708	2.585000	0.87301	0.561000	0.74099	GTG		0.682	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			23	515	0	0	0	1	0	23	515				
TRPV6	55503	broad.mit.edu	37	7	142572291	142572291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142572291C>T	ENST00000359396.3	-	11	1650	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	469					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AATCCTCGGGCGAAGTACATG	0.592																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1405-1407)Gcc>Acc		transient receptor potential cation channel, subfamily V, member 6							126.0	119.0	121.0					7																	142572291		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572291C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1405G>A	7.37:g.142572291C>T	ENSP00000352358:p.Ala469Thr						p.A469T	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			11	1650	-	Melanoma(164;0.059)		469					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1405G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635558	0.67130	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85955	-2.05;-2.05	4.32	3.43	0.39272	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	L	0.35487	1.065	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	T	0.77239	-0.2661	10	0.10377	T	0.69	-24.1663	11.7795	0.52006	0.0:0.9133:0.0:0.0867	.	469	Q9H1D0	TRPV6_HUMAN	T	469;301;92	ENSP00000352358:A469T;ENSP00000411100:A92T	ENSP00000310825:A301T	A	-	1	0	TRPV6	142282413	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.616000	0.83018	1.175000	0.42826	0.561000	0.74099	GCC		0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		69	389	0	0	0	1	0	69	389				
NOV	4856	broad.mit.edu	37	8	120430352	120430352	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430352A>C	ENST00000259526.3	+	3	592	c.365A>C	c.(364-366)aAa>aCa	p.K122T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			AGTGGAGAGAAATTTCAGCCA	0.512																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(364-366)aAa>aCa		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						98.0	101.0	100.0					8																	120430352		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120430352A>C	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.365A>C	8.37:g.120430352A>C	ENSP00000259526:p.Lys122Thr						p.K122T	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	592	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		122			VWFC.			Missense_Mutation	SNP	ENST00000259526.3	37	c.365A>C	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123628	0.37436	.	.	ENSG00000136999	ENST00000259526	T	0.70869	-0.52	5.51	3.56	0.40772	von Willebrand factor, type C (3);	0.174753	0.53938	N	0.000059	T	0.32194	0.0821	N	0.00329	-1.635	0.35092	D	0.764375	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	10	0.19590	T	0.45	-5.5229	9.4965	0.38991	0.2304:0.66:0.1096:0.0	.	122	P48745	NOV_HUMAN	T	122	ENSP00000259526:K122T	ENSP00000259526:K122T	K	+	2	0	NOV	120499533	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	2.747000	0.47475	0.740000	0.32651	0.459000	0.35465	AAA		0.512	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		34	274	0	0	0	1	0	34	274				
UNC80	285175	broad.mit.edu	37	2	210642102	210642102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210642102G>A	ENST00000439458.1	+	4	499	c.419G>A	c.(418-420)aGc>aAc	p.S140N	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.6_Missense_Mutation_p.S140N	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	140					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGAGGCTCCAGCTGGGGTGGA	0.552																																						ENST00000439458.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(418-420)aGc>aAc		unc-80 homolog (C. elegans)							58.0	63.0	61.0					2																	210642102		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210642102G>A	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.419G>A	2.37:g.210642102G>A	ENSP00000391088:p.Ser140Asn					UNC80_ENST00000272845.5_Missense_Mutation_p.S140N|UNC80_ENST00000478701.1_3'UTR	p.S140N	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			4	499	+			140					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.419G>A	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283898	0.95489	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.33438	1.41;1.41	6.08	6.08	0.98989	.	0.092911	0.85682	D	0.000000	T	0.21062	0.0507	N	0.08118	0	0.80722	D	1	B;P	0.41848	0.275;0.763	B;B	0.39027	0.12;0.288	T	0.06734	-1.0810	10	0.59425	D	0.04	.	18.844	0.92196	0.0:0.0:1.0:0.0	.	140;140	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	N	140	ENSP00000391088:S140N;ENSP00000272845:S140N	ENSP00000272845:S140N	S	+	2	0	UNC80	210350347	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.194000	0.94962	2.894000	0.99253	0.655000	0.94253	AGC		0.552	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		64	356	0	0	0	1	0	64	356				
B3GAT1	27087	broad.mit.edu	37	11	134257523	134257523	+	Missense_Mutation	SNP	C	C	T	rs144109297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134257523C>T	ENST00000524765.1	-	2	4575	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	B3GAT1_ENST00000312527.4_Missense_Mutation_p.V11I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V24I|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V11I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	11					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.V11I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACGATGAGGACGATCGCTAGG	0.627																																						ENST00000524765.1																			1	Substitution - Missense(1)	p.V11I(1)	ovary(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(31-33)Gtc>Atc		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)		C	ILE/VAL,ILE/VAL	0,4402		0,0,2201	151.0	106.0	122.0		31,31	1.4	0.9	11	dbSNP_134	122	2,8592	2.2+/-6.3	0,2,4295	yes	missense,missense	B3GAT1	NM_018644.3,NM_054025.2	29,29	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	11/335,11/335	134257523	2,12994	2201	4297	6498	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134257523C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.31G>A	11.37:g.134257523C>T	ENSP00000433847:p.Val11Ile					B3GAT1_ENST00000537389.1_Missense_Mutation_p.V24I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V11I|B3GAT1_ENST00000312527.4_Missense_Mutation_p.V11I	p.V11I			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	2	4575	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	11					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.31G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040842	0.55003	0.0	2.33E-4	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.65178	-0.12;-0.12;-0.12;-0.14	4.38	1.44	0.22558	.	0.195514	0.43747	N	0.000524	T	0.35307	0.0927	N	0.12182	0.205	0.49483	D	0.999795	B;B	0.16166	0.002;0.016	B;B	0.09377	0.003;0.004	T	0.04664	-1.0935	10	0.15499	T	0.54	.	6.6376	0.22891	0.1444:0.6987:0.0:0.1569	.	24;11	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	I	11;11;11;24	ENSP00000376359:V11I;ENSP00000307875:V11I;ENSP00000433847:V11I;ENSP00000445983:V24I	ENSP00000307875:V11I	V	-	1	0	B3GAT1	133762733	0.933000	0.31639	0.928000	0.36995	0.995000	0.86356	0.477000	0.22196	0.132000	0.18615	0.561000	0.74099	GTC		0.627	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		48	279	0	0	0	1	0	48	279				
PCDHA9	9752	broad.mit.edu	37	5	140229786	140229786	+	Missense_Mutation	SNP	G	G	A	rs202136378		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229786G>A	ENST00000532602.1	+	1	2739	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R569Q|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACACCTCGGATGAGGGGC	0.711																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1705-1707)cGg>cAg									57.0	62.0	60.0					5																	140229786		2196	4267	6463	SO:0001583	missense	0							g.chr5:140229786G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1706G>A	5.37:g.140229786G>A	ENSP00000436042:p.Arg569Gln					PCDHA9_ENST00000532602.1_Missense_Mutation_p.R569Q|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R569Q	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2430	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1706G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	1.122	-0.655074	0.03480	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.63417	-0.04;-0.04	2.59	2.59	0.31030	Cadherin-like (1);	0.808617	0.09411	U	0.805753	T	0.35885	0.0947	N	0.10782	0.045	0.09310	N	0.999995	B;D	0.54601	0.008;0.967	B;B	0.31946	0.004;0.138	T	0.07102	-1.0790	10	0.27785	T	0.31	.	12.4556	0.55702	0.0:0.0:1.0:0.0	.	569;569	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	569	ENSP00000436042:R569Q;ENSP00000367362:R569Q	ENSP00000367362:R569Q	R	+	2	0	PCDHA9	140209970	0.000000	0.05858	0.052000	0.19188	0.025000	0.11179	0.195000	0.17155	1.725000	0.51514	0.313000	0.20887	CGG		0.711	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		130	600	0	0	0	1	0	130	600				
MACF1	23499	broad.mit.edu	37	1	39799004	39799004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799004C>T	ENST00000372915.3	+	36	6846	c.6759C>T	c.(6757-6759)aaC>aaT	p.N2253N	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000564288.1_Silent_p.N2248N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.N2285N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2253					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGCACAGAACATCGCAGGTG	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6742-6744)aaC>aaT		microtubule-actin crosslinking factor 1							102.0	100.0	101.0					1																	39799004		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799004C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6759C>T	1.37:g.39799004C>T						MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.N2285N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000372915.3_Silent_p.N2253N|MACF1_ENST00000361689.2_Intron	p.N2248N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7521	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2253					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.6744C>T																																																																																					0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		17	434	0	0	0	1	0	17	434				
ADPRHL2	54936	broad.mit.edu	37	1	36558779	36558779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36558779C>A	ENST00000373178.4	+	6	914	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	295						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CCTGAGATCCCTTCTGCCTTC	0.557																																						ENST00000373178.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(883-885)cCt>cAt		ADP-ribosylhydrolase like 2							127.0	123.0	125.0					1																	36558779		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36558779C>A	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.884C>A	1.37:g.36558779C>A	ENSP00000362273:p.Pro295His						p.P295H	NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN			6	914	+		Myeloproliferative disorder(586;0.0393)	295					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.884C>A	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501166	0.85176	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.50001	0.76	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.74768	-0.3553	10	0.62326	D	0.03	-11.1167	14.2562	0.66053	0.0:0.9283:0.0:0.0716	.	295	Q9NX46	ARHL2_HUMAN	H	295;215;141	ENSP00000362273:P295H	ENSP00000362273:P295H	P	+	2	0	ADPRHL2	36331366	1.000000	0.71417	0.842000	0.33263	0.949000	0.60115	7.783000	0.85696	1.305000	0.44909	0.563000	0.77884	CCT		0.557	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		81	271	1	0	1.75807e-36	1	2.10477e-36	81	271				
OR10Z1	128368	broad.mit.edu	37	1	158576821	158576821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158576821G>T	ENST00000361284.1	+	1	593	c.593G>T	c.(592-594)aGg>aTg	p.R198M		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGTGAGCTGAGGATCTTTATC	0.512																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(592-594)aGg>aTg		olfactory receptor, family 10, subfamily Z, member 1							139.0	117.0	124.0					1																	158576821		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576821G>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.593G>T	1.37:g.158576821G>T	ENSP00000354707:p.Arg198Met						p.R198M	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	593	+	all_hematologic(112;0.0378)		198					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.593G>T	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	1.832	-0.469578	0.04445	.	.	ENSG00000198967	ENST00000361284	T	0.36520	1.25	5.26	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.379178	0.19324	N	0.117043	T	0.02848	0.0085	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	10	0.48119	T	0.1	.	1.9586	0.03381	0.1515:0.1226:0.3631:0.3629	.	198	Q8NGY1	O10Z1_HUMAN	M	198	ENSP00000354707:R198M	ENSP00000354707:R198M	R	+	2	0	OR10Z1	156843445	0.000000	0.05858	0.117000	0.21633	0.026000	0.11368	0.108000	0.15396	0.339000	0.23719	-0.119000	0.15052	AGG		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		14	721	1	0	0.000308642	1	0.000312942	14	721				
KERA	11081	broad.mit.edu	37	12	91449450	91449450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449450G>A	ENST00000266719.3	-	2	856	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	203					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TATTCCTCAGGGCATTCTTGG	0.368																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(607-609)gcC>gcT		keratocan							129.0	127.0	128.0					12																	91449450		2203	4299	6502	SO:0001819	synonymous_variant	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449450G>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.609C>T	12.37:g.91449450G>A							p.A203A	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	856	-			203						Silent	SNP	ENST00000266719.3	37	c.609C>T	CCDS9037.1																																																																																				0.368	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		125	567	0	0	0	1	0	125	567				
CD276	80381	broad.mit.edu	37	15	73994861	73994861	+	Silent	SNP	G	G	A	rs145054349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73994861G>A	ENST00000318443.5	+	3	647	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CD276_ENST00000537340.2_5'UTR|CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000318424.5_Silent_p.A115A|CD276_ENST00000564751.1_Silent_p.A115A	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	115	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGCGTGTGGCGGACGAGGGCA	0.697													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18188	0.0		0.001	False		,,,				2504	0.0					ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.(343-345)gcG>gcA		CD276 molecule		G	,	22,4374	29.0+/-57.7	0,22,2176	43.0	37.0	39.0		345,345	-5.6	0.7	15	dbSNP_134	39	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	CD276	NM_001024736.1,NM_025240.2	,	0,24,6469	AA,AG,GG		0.0233,0.5005,0.1848	,	115/535,115/317	73994861	24,12962	2198	4295	6493	SO:0001819	synonymous_variant	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73994861G>A	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.345G>A	15.37:g.73994861G>A						CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000564751.1_Silent_p.A115A|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000318424.5_Silent_p.A115A	p.A115A	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			3	647	+			115			Ig-like V-type 1.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Silent	SNP	ENST00000318443.5	37	c.345G>A	CCDS32288.1																																																																																				0.697	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		36	152	0	0	0	1	0	36	152				
ABCA9	10350	broad.mit.edu	37	17	66981212	66981212	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66981212T>C	ENST00000340001.4	-	33	4477	c.4266A>G	c.(4264-4266)tcA>tcG	p.S1422S	ABCA9_ENST00000453985.2_Silent_p.S1384S|ABCA9_ENST00000370732.2_Silent_p.S1422S|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTATTCCCTCTGACAAGGTCT	0.537																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4264-4266)tcA>tcG		ATP-binding cassette, sub-family A (ABC1), member 9							128.0	112.0	117.0					17																	66981212		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66981212T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4266A>G	17.37:g.66981212T>C						ABCA9_ENST00000453985.2_Silent_p.S1384S|ABCA9_ENST00000370732.2_Silent_p.S1422S	p.S1422S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			33	4477	-	Breast(10;1.47e-12)		1422			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4266A>G	CCDS11681.1																																																																																				0.537	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		79	335	0	0	0	1	0	79	335				
SEMA5A	9037	broad.mit.edu	37	5	9380032	9380032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9380032C>T	ENST00000382496.5	-	3	692	c.27G>A	c.(25-27)tgG>tgA	p.W9*	CTD-2201E9.4_ENST00000511310.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	9					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTGAGAACAGCCATGCTATAA	0.547																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(25-27)tgG>tgA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							111.0	110.0	111.0					5																	9380032		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9380032C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.27G>A	5.37:g.9380032C>T	ENSP00000371936:p.Trp9*					CTD-2201E9.4_ENST00000511310.1_RNA	p.W9*	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			3	692	-			9					D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.27G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.079159	0.98048	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	.	.	.	5.43	5.43	0.79202	.	0.100355	0.42821	D	0.000643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7345	0.69406	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000371936:W9X	W	-	3	0	SEMA5A	9433032	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.511000	0.45476	2.551000	0.86045	0.563000	0.77884	TGG		0.547	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			84	453	0	0	0	1	0	84	453				
PTPN13	5783	broad.mit.edu	37	4	87622493	87622493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87622493C>T	ENST00000411767.2	+	7	797	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000436978.1_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	245					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGATTTCTGTCCATCAAAGAT	0.368																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(733-735)tCc>tTc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							51.0	47.0	49.0					4																	87622493		1821	4080	5901	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87622493C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.734C>T	4.37:g.87622493C>T	ENSP00000407249:p.Ser245Phe					PTPN13_ENST00000411767.2_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F	p.S245F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1214	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	245					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.734C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889809	0.72524	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.55	5.55	0.83447	.	0.150735	0.31010	N	0.008434	T	0.55210	0.1906	L	0.57536	1.79	0.38638	D	0.951532	D;D;D;D	0.64830	0.994;0.991;0.984;0.991	P;P;P;P	0.59643	0.832;0.861;0.73;0.861	T	0.58132	-0.7690	10	0.59425	D	0.04	.	19.5071	0.95124	0.0:1.0:0.0:0.0	.	245;245;245;245	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	F	245;245;245;245;245;213	ENSP00000408368:S245F;ENSP00000394794:S245F;ENSP00000322675:S245F;ENSP00000407249:S245F;ENSP00000426626:S245F	ENSP00000322675:S245F	S	+	2	0	PTPN13	87841517	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.359000	0.66074	2.617000	0.88574	0.557000	0.71058	TCC		0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			15	89	0	0	0	1	0	15	89				
PILRA	29992	broad.mit.edu	37	7	99971341	99971341	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99971341C>A	ENST00000198536.2	+	1	274	c.62C>A	c.(61-63)cCt>cAt	p.P21H	PILRA_ENST00000350573.2_Missense_Mutation_p.P21H|PILRA_ENST00000453419.1_Missense_Mutation_p.P21H|PILRA_ENST00000394000.2_Missense_Mutation_p.P21H	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	21					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCTGCAGCCTAGTGAGTAC	0.647																																						ENST00000198536.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(61-63)cCt>cAt		paired immunoglobin-like type 2 receptor alpha							57.0	62.0	60.0					7																	99971341		2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971341C>A	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.62C>A	7.37:g.99971341C>A	ENSP00000198536:p.Pro21His					PILRA_ENST00000453419.1_Missense_Mutation_p.P21H|PILRA_ENST00000394000.2_Missense_Mutation_p.P21H|PILRA_ENST00000350573.2_Missense_Mutation_p.P21H	p.P21H	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN			1	274	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		21					Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.62C>A	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222284	0.39300	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.23348	1.93;2.23;2.23;1.91;2.26	3.65	0.63	0.17693	Immunoglobulin-like (1);	1.274000	0.05643	N	0.583869	T	0.27594	0.0678	N	0.14661	0.345	0.09310	N	1	P;D;D;D;P	0.71674	0.553;0.994;0.986;0.998;0.688	B;P;P;P;B	0.61940	0.094;0.669;0.895;0.896;0.094	T	0.28490	-1.0042	9	.	.	.	.	5.8473	0.18673	0.3885:0.4221:0.1894:0.0	.	21;21;21;21;21	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	H	21	ENSP00000415111:P21H;ENSP00000198536:P21H;ENSP00000390026:P21H;ENSP00000377569:P21H;ENSP00000340109:P21H	.	P	+	2	0	PILRA	99809277	0.000000	0.05858	0.037000	0.18230	0.003000	0.03518	-0.635000	0.05471	0.123000	0.18342	0.313000	0.20887	CCT		0.647	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		82	423	1	0	6.88379e-33	1	8.14374e-33	82	423				
TMEM74	157753	broad.mit.edu	37	8	109796947	109796947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:109796947C>T	ENST00000297459.3	-	2	559	c.381G>A	c.(379-381)tcG>tcA	p.S127S	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	127					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGCTGATGGCGAGCTCCGGT	0.493																																						ENST00000297459.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29						c.(379-381)tcG>tcA		transmembrane protein 74							76.0	80.0	79.0					8																	109796947		2203	4300	6503	SO:0001819	synonymous_variant	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796947C>T	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.381G>A	8.37:g.109796947C>T						TMEM74_ENST00000518838.1_Intron	p.S127S	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	559	-			127						Silent	SNP	ENST00000297459.3	37	c.381G>A	CCDS6310.1																																																																																				0.493	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		85	382	0	0	0	1	0	85	382				
NPFFR2	10886	broad.mit.edu	37	4	72897828	72897828	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72897828T>C	ENST00000308744.6	+	1	308	c.210T>C	c.(208-210)agT>agC	p.S70S	NPFFR2_ENST00000344413.5_Silent_p.S70S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	70					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGCGAAAAGTAGCTGGAGCC	0.667																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(208-210)agT>agC		neuropeptide FF receptor 2							37.0	41.0	40.0					4																	72897828		2203	4300	6503	SO:0001819	synonymous_variant	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897828T>C	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.210T>C	4.37:g.72897828T>C						NPFFR2_ENST00000344413.5_Silent_p.S70S	p.S70S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	308	+			70					Q96RV1|Q9NR49	Silent	SNP	ENST00000308744.6	37	c.210T>C	CCDS3551.1																																																																																				0.667	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		35	159	0	0	0	1	0	35	159				
ABHD6	57406	broad.mit.edu	37	3	58252923	58252923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58252923C>T	ENST00000478253.1	+	4	628	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	43					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CAGGTACTGGCGGAGGACATT	0.493																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(127-129)Cgg>Tgg		abhydrolase domain containing 6							167.0	153.0	158.0					3																	58252923		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58252923C>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.127C>T	3.37:g.58252923C>T	ENSP00000420315:p.Arg43Trp					ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W	p.R43W			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	4	628	+			43					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.127C>T	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088007	0.76642	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	D;D;D;D	0.91237	-1.5;-1.5;-2.81;-2.81	5.27	4.39	0.52855	.	0.051922	0.85682	D	0.000000	D	0.94660	0.8278	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.74674	0.913;0.984	D	0.95078	0.8210	10	0.87932	D	0	-24.8984	14.9548	0.71104	0.144:0.856:0.0:0.0	.	43;43	Q9BV23;F5H7L1	ABHD6_HUMAN;.	W	43	ENSP00000420315:R43W;ENSP00000295962:R43W;ENSP00000420408:R43W;ENSP00000418934:R43W	ENSP00000295962:R43W	R	+	1	2	ABHD6	58227963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.755000	0.38379	1.202000	0.43218	0.555000	0.69702	CGG		0.493	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		100	453	0	0	0	1	0	100	453				
MPEG1	219972	broad.mit.edu	37	11	58980176	58980176	+	Missense_Mutation	SNP	G	G	A	rs149377168		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58980176G>A	ENST00000361050.3	-	1	248	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	55	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCCACATTCCGCAGATTGTCC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20158	0.0		0.001	False		,,,				2504	0.0					ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(163-165)Cgg>Tgg		macrophage expressed 1		G	TRP/ARG	1,4029		0,1,2014	158.0	158.0	158.0		163	2.1	1.0	11	dbSNP_134	158	8,8346		0,8,4169	yes	missense	MPEG1	NM_001039396.1	101	0,9,6183	AA,AG,GG		0.0958,0.0248,0.0727	probably-damaging	55/717	58980176	9,12375	2015	4177	6192	SO:0001583	missense	219972					integral to membrane		g.chr11:58980176G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.163C>T	11.37:g.58980176G>A	ENSP00000354335:p.Arg55Trp						p.R55W	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	248	-		all_epithelial(135;0.125)	55			MACPF.		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.163C>T	CCDS41650.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.79	3.221692	0.58560	2.48E-4	9.58E-4	ENSG00000197629	ENST00000361050;ENST00000545098	T	0.30182	1.54	5.41	2.07	0.26955	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.81497	2.545	0.41927	D	0.990546	D	0.89917	1.0	D	0.81914	0.995	T	0.61257	-0.7099	10	0.87932	D	0	-28.9473	12.4979	0.55940	0.0:0.0:0.5087:0.4913	.	55	Q2M385	MPEG1_HUMAN	W	55	ENSP00000354335:R55W	ENSP00000354335:R55W	R	-	1	2	MPEG1	58736752	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.800000	0.38833	0.603000	0.29913	0.644000	0.83932	CGG		0.488	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		178	699	0	0	0	1	0	178	699				
SOS1	6654	broad.mit.edu	37	2	39249909	39249909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39249909G>A	ENST00000426016.1	-	11	1746	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F	SOS1_ENST00000395038.2_Missense_Mutation_p.L554F|SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000402219.2_Missense_Mutation_p.L554F			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	554			LDVTM -> K (in NS4). {ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTTACATCAAGCATCCTTTCC	0.398									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1660-1662)Ctt>Ttt		son of sevenless homolog 1 (Drosophila)							160.0	151.0	154.0					2																	39249909		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39249909G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1660C>T	2.37:g.39249909G>A	ENSP00000387784:p.Leu554Phe					SOS1_ENST00000395038.2_Missense_Mutation_p.L554F|SOS1_ENST00000402219.2_Missense_Mutation_p.L554F	p.L554F			Q07889	SOS1_HUMAN			11	1746	-		all_hematologic(82;0.21)	554					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1660C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539986	0.65085	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.88431	-2.38;-2.38;-2.38	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93779	0.7082	10	0.87932	D	0	.	7.5761	0.27937	0.195:0.0:0.805:0.0	.	286;554	F5GX06;Q07889	.;SOS1_HUMAN	F	554;554;286;554;554	ENSP00000387784:L554F;ENSP00000384675:L554F;ENSP00000378479:L554F	ENSP00000263879:L554F	L	-	1	0	SOS1	39103413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.019000	0.49635	2.722000	0.93159	0.557000	0.71058	CTT		0.398	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		139	398	0	0	0	1	0	139	398				
HLA-DQA2	3118	broad.mit.edu	37	6	32713601	32713601	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32713601C>A	ENST00000374940.3	+	3	467	c.365C>A	c.(364-366)cCt>cAt	p.P122H		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)	p.P122L(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TCCAAGTTTCCTGTGACGCTG	0.507																																						ENST00000374940.3																			1	Substitution - Missense(1)	p.P122L(1)	endometrium(1)	endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(364-366)cCt>cAt		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						183.0	143.0	157.0					6																	32713601		1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713601C>A		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.365C>A	6.37:g.32713601C>A	ENSP00000364076:p.Pro122His						p.P122H	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			3	467	+			122			Alpha-2.|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.365C>A	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	9.674	1.147399	0.21288	.	.	ENSG00000237541	ENST00000374940	T	0.03181	4.02	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.262799	0.32328	U	0.006247	T	0.14056	0.0340	M	0.93150	3.385	0.19575	N	0.999962	D	0.89917	1.0	D	0.97110	1.0	T	0.03112	-1.1071	10	0.87932	D	0	.	11.8979	0.52665	0.0:1.0:0.0:0.0	.	122	P01906	DQA2_HUMAN	H	122	ENSP00000364076:P122H	ENSP00000364076:P122H	P	+	2	0	HLA-DQA2	32821579	0.052000	0.20516	0.689000	0.30133	0.038000	0.13279	1.998000	0.40796	1.700000	0.51204	0.174000	0.16983	CCT		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		85	398	1	0	2.38877e-28	1	2.77873e-28	85	398				
SLC44A2	57153	broad.mit.edu	37	19	10746125	10746125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10746125C>T	ENST00000335757.5	+	14	1543	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	SLC44A2_ENST00000586078.1_Silent_p.N389N|SLC44A2_ENST00000407327.4_Silent_p.N387N			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	389					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCACTTCCAACGAAGCGGTCT	0.552																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1165-1167)aaC>aaT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						140.0	144.0	142.0					19																	10746125		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10746125C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1167C>T	19.37:g.10746125C>T						SLC44A2_ENST00000407327.4_Silent_p.N387N|SLC44A2_ENST00000335757.5_Silent_p.N389N	p.N389N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		14	1276	+			389					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.1167C>T	CCDS12245.1																																																																																				0.552	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			127	609	0	0	0	1	0	127	609				
TAF1B	9014	broad.mit.edu	37	2	10045080	10045080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10045080C>A	ENST00000263663.5	+	9	1088	c.900C>A	c.(898-900)tgC>tgA	p.C300*	TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	300	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAAGACTGCTATCTTCATC	0.388																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(898-900)tgC>tgA		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							124.0	110.0	114.0					2																	10045080		2203	4300	6503	SO:0001587	stop_gained	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10045080C>A	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.900C>A	2.37:g.10045080C>A	ENSP00000263663:p.Cys300*					TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	p.C300*	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			9	1088	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		300					B4DI42|F8WD72|Q15574|Q8WVC3	Nonsense_Mutation	SNP	ENST00000263663.5	37	c.900C>A	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576971	0.97676	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	.	.	.	5.67	4.69	0.59074	.	0.183950	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1512	9.6841	0.40087	0.0:0.8161:0.0:0.1839	.	.	.	.	X	300;45	.	.	C	+	3	2	TAF1B	9962531	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.293000	0.33353	2.673000	0.90976	0.467000	0.42956	TGC		0.388	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		85	396	1	0	3.24273e-39	1	3.91873e-39	85	396				
FSIP2	401024	broad.mit.edu	37	2	186671080	186671080	+	Missense_Mutation	SNP	A	A	G	rs549664259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671080A>G	ENST00000424728.1	+	17	17047	c.17047A>G	c.(17047-17049)Aat>Gat	p.N5683D	FSIP2_ENST00000343098.5_Missense_Mutation_p.N5772D			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5683										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTCATTGAAAATATTTTTGA	0.378																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17314-17316)Aat>Gat		fibrous sheath interacting protein 2							71.0	67.0	68.0					2																	186671080		1839	4083	5922	SO:0001583	missense	401024							g.chr2:186671080A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17047A>G	2.37:g.186671080A>G	ENSP00000401306:p.Asn5683Asp					FSIP2_ENST00000424728.1_Missense_Mutation_p.N5683D	p.N5772D	NM_173651.2	NP_775922.2					17	17314	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17314A>G		.	.	.	.	.	.	.	.	.	.	A	12.34	1.909852	0.33721	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.50548	0.74;0.74	5.21	5.21	0.72293	.	.	.	.	.	T	0.45418	0.1341	L	0.32530	0.975	0.29107	N	0.881129	.	.	.	.	.	.	T	0.47849	-0.9085	7	0.56958	D	0.05	.	11.3864	0.49787	1.0:0.0:0.0:0.0	.	.	.	.	D	5772;5683	ENSP00000344403:N5772D;ENSP00000401306:N5683D	ENSP00000344403:N5772D	N	+	1	0	FSIP2	186379325	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.007000	0.57093	2.175000	0.68902	0.482000	0.46254	AAT		0.378	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		78	341	0	0	0	1	0	78	341				
ADCY10	55811	broad.mit.edu	37	1	167802330	167802330	+	Missense_Mutation	SNP	C	C	T	rs143185037	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167802330C>T	ENST00000367851.4	-	25	3672	c.3488G>A	c.(3487-3489)cGa>cAa	p.R1163Q	ADCY10_ENST00000367848.1_Missense_Mutation_p.R1071Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGAAAGATTCGGTTGAGGAG	0.468																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3211-3213)cGa>cAa		adenylate cyclase 10 (soluble)							275.0	281.0	279.0					1																	167802330		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167802330C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3488G>A	1.37:g.167802330C>T	ENSP00000356825:p.Arg1163Gln					ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q|ADCY10_ENST00000367851.4_Missense_Mutation_p.R1163Q|ADCY10_ENST00000485964.1_5'UTR	p.R1071Q			Q96PN6	ADCYA_HUMAN			25	3709	-			1163					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3212G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.191030	0.58017	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.32988	1.43;1.44;1.44	5.48	2.62	0.31277	.	0.571110	0.15709	N	0.248496	T	0.12646	0.0307	M	0.74258	2.255	0.24101	N	0.995879	P;B	0.36249	0.545;0.41	B;B	0.22386	0.039;0.017	T	0.03898	-1.0994	9	0.44086	T	0.13	-1.6966	8.0859	0.30771	0.0:0.7467:0.0:0.2533	.	1071;1163	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	Q	1010;64;1163;1071	ENSP00000441992:R1010Q;ENSP00000356825:R1163Q;ENSP00000356822:R1071Q	ENSP00000271426:R64Q	R	-	2	0	ADCY10	166068954	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	0.296000	0.19083	0.393000	0.25203	-0.131000	0.14894	CGA		0.468	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		406	1173	0	0	0	1	0	406	1173				
C10orf12	26148	broad.mit.edu	37	10	98741860	98741860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741860T>G	ENST00000286067.2	+	1	820	c.713T>G	c.(712-714)aTt>aGt	p.I238S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	238										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCCTTACAATTCCAGCCCCT	0.493																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(712-714)aTt>aGt		chromosome 10 open reading frame 12							96.0	96.0	96.0					10																	98741860		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741860T>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.713T>G	10.37:g.98741860T>G	ENSP00000286067:p.Ile238Ser						p.I238S	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	820	+		Colorectal(252;0.172)	238					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.713T>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	1.659	-0.512042	0.04200	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09445	2.98	6.05	1.03	0.20045	.	1.722310	0.03331	N	0.193415	T	0.08626	0.0214	N	0.19112	0.55	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21708	0.022;0.036	T	0.36648	-0.9739	10	0.62326	D	0.03	0.665	5.4761	0.16695	0.0:0.2189:0.1337:0.6474	.	72;238	A0PJI9;Q8N655	.;CJ012_HUMAN	S	238;72	ENSP00000286067:I238S	ENSP00000286067:I238S	I	+	2	0	C10orf12	98731850	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.066000	0.12998	-0.274000	0.10170	ATT		0.493	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		95	403	0	0	0	1	0	95	403				
NDUFB8	4714	broad.mit.edu	37	10	102286192	102286192	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102286192G>T	ENST00000299166.4	-	4	444	c.432C>A	c.(430-432)tgC>tgA	p.C144*	NDUFB8_ENST00000531258.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000557395.1_Nonsense_Mutation_p.C144*|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	144					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		CCCCCACCCAGCACATGAATA	0.527																																						ENST00000531258.1																			0				endometrium(2)|lung(2)	4						c.(430-432)tgC>tgA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	NADH(DB00157)						113.0	91.0	98.0					10																	102286192		2203	4300	6503	SO:0001587	stop_gained	4714				mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr10:102286192G>T	AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"""Mitochondrial respiratory chain complex / Complex I"""	7703	protein-coding gene	gene with protein product	"""complex I ASHI subunit"""	602140	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"""			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.432C>A	10.37:g.102286192G>T	ENSP00000299166:p.Cys144*					SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000299166.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000557395.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*	p.C144*			O95169	NDUB8_HUMAN		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	4	461	-		Colorectal(252;0.234)	144					A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Nonsense_Mutation	SNP	ENST00000299166.4	37	c.432C>A	CCDS7497.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587017	0.46110	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.69	3.76	0.43208	.	0.048843	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.9895	7.8746	0.29586	0.3275:0.0:0.6725:0.0	.	.	.	.	X	144;144;113;144	.	ENSP00000299166:C144X	C	-	3	2	NDUFB8	102276182	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	2.419000	0.44671	0.674000	0.31244	0.555000	0.69702	TGC		0.527	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	NM_005004		43	174	1	0	7.05121e-23	1	7.99584e-23	43	174				
PKNOX2	63876	broad.mit.edu	37	11	125267823	125267823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125267823C>T	ENST00000298282.9	+	7	724	c.453C>T	c.(451-453)gtC>gtT	p.V151V	PKNOX2_ENST00000542175.1_Silent_p.V87V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	151					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGAGAAAGTCAATGAACTCT	0.522																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(451-453)gtC>gtT		PBX/knotted 1 homeobox 2							112.0	120.0	117.0					11																	125267823		1984	4186	6170	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125267823C>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.453C>T	11.37:g.125267823C>T						PKNOX2_ENST00000542175.1_Silent_p.V87V|PKNOX2_ENST00000530517.1_3'UTR	p.V151V	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	7	724	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	151					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.453C>T	CCDS41730.1																																																																																				0.522	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			93	359	0	0	0	1	0	93	359				
GPR116	221395	broad.mit.edu	37	6	46834846	46834846	+	Silent	SNP	C	C	T	rs147958492	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46834846C>T	ENST00000283296.7	-	13	1938	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	GPR116_ENST00000265417.7_Silent_p.K550K|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000456426.2_Silent_p.K408K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	550	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTATGAATTCTTATATCTAA	0.413																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1648-1650)aaG>aaA		G protein-coupled receptor 116							119.0	117.0	117.0					6																	46834846		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46834846C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1650G>A	6.37:g.46834846C>T						GPR116_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000456426.2_Silent_p.K408K|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Silent_p.K550K	p.K550K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		13	1938	-			550			Ig-like 3.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.1650G>A	CCDS4919.1																																																																																				0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		65	339	0	0	0	1	0	65	339				
CHRFAM7A	89832	broad.mit.edu	37	15	30659671	30659671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30659671C>T	ENST00000299847.2	-	9	1123	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.V133M|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	224						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TACTGCAGCACGATCACCGTC	0.637																																						ENST00000397827.3																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(397-399)Gtg>Atg		CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion							149.0	123.0	131.0					15																	30659671		2191	4288	6479	SO:0001583	missense	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30659671C>T	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.670G>A	15.37:g.30659671C>T	ENSP00000299847:p.Val224Met					CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.V224M|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M	p.V133M	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	8	1171	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	224					A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	c.397G>A	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.193467	0.78902	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.90504	-2.68;-2.68;-2.68	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.055343	0.64402	D	0.000001	D	0.96448	0.8841	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97057	0.9768	10	0.87932	D	0	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	224	Q494W8	CRFM7_HUMAN	M	224;133;133	ENSP00000299847:V224M;ENSP00000380927:V133M;ENSP00000385389:V133M	ENSP00000299847:V224M	V	-	1	0	CHRFAM7A	28446963	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.232000	0.78116	1.535000	0.49220	0.398000	0.26397	GTG		0.637	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		21	377	0	0	0	1	0	21	377				
LRRK1	79705	broad.mit.edu	37	15	101523781	101523781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101523781C>T	ENST00000388948.3	+	4	669	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C|LRRK1_ENST00000284395.5_Missense_Mutation_p.R77C	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGATGGTCCGCTACCTACT	0.587																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(229-231)Cgc>Tgc		leucine-rich repeat kinase 1							97.0	99.0	98.0					15																	101523781		1973	4157	6130	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101523781C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.310C>T	15.37:g.101523781C>T	ENSP00000373600:p.Arg104Cys					LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C|LRRK1_ENST00000388948.3_Missense_Mutation_p.R104C	p.R77C			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	629	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		104						Missense_Mutation	SNP	ENST00000388948.3	37	c.229C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239573	0.22711	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.67345	-0.26;-0.26;-0.26	5.7	3.65	0.41850	Ankyrin repeat-containing domain (4);	0.153474	0.40302	N	0.001139	T	0.63558	0.2521	M	0.82923	2.615	0.09310	N	0.999992	B;P	0.40931	0.019;0.733	B;B	0.28465	0.011;0.09	T	0.65055	-0.6261	10	0.87932	D	0	.	12.9465	0.58375	0.3792:0.6208:0.0:0.0	.	104;104	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	C	104;77;104	ENSP00000373600:R104C;ENSP00000284395:R77C;ENSP00000433268:R104C	ENSP00000284395:R77C	R	+	1	0	LRRK1	99341304	0.652000	0.27349	0.017000	0.16124	0.411000	0.31082	1.551000	0.36233	1.382000	0.46385	0.585000	0.79938	CGC		0.587	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		112	546	0	0	0	1	0	112	546				
RNF146	81847	broad.mit.edu	37	6	127608109	127608109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608109C>T	ENST00000368314.1	+	3	775	c.351C>T	c.(349-351)taC>taT	p.Y117Y	RNF146_ENST00000608991.1_Silent_p.Y116Y|RNF146_ENST00000309649.3_Silent_p.Y116Y|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Silent_p.Y117Y	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	117	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGTGGCAGTACGATGAGCGCA	0.423																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(349-351)taC>taT		ring finger protein 146							99.0	89.0	92.0					6																	127608109		2203	4300	6503	SO:0001819	synonymous_variant	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608109C>T	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.351C>T	6.37:g.127608109C>T						RNF146_ENST00000309649.3_Silent_p.Y116Y|RNF146_ENST00000356799.2_Silent_p.Y116Y	p.Y117Y	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	775	+			117			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	ENST00000368314.1	37	c.351C>T	CCDS56449.1																																																																																				0.423	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		90	403	0	0	0	1	0	90	403				
FLOT2	2319	broad.mit.edu	37	17	27207787	27207787	+	Silent	SNP	G	G	A	rs369098535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27207787G>A	ENST00000394908.4	-	10	1296	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Silent_p.L453L|FLOT2_ENST00000585169.1_Silent_p.L398L	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	398					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCGGCCAGCAGTCGGTTCACT	0.577																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1357-1359)Ctg>Ttg		flotillin 2							88.0	93.0	91.0					17																	27207787		2164	4268	6432	SO:0001819	synonymous_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27207787G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1192C>T	17.37:g.27207787G>A						FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Silent_p.L398L|FLOT2_ENST00000585169.1_Silent_p.L398L	p.L453L			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		12	1434	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		398						Silent	SNP	ENST00000394908.4	37	c.1357C>T	CCDS11245.2																																																																																				0.577	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		106	451	0	0	0	1	0	106	451				
SS18	6760	broad.mit.edu	37	18	23612494	23612494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23612494G>A	ENST00000415083.2	-	10	1154	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SS18_ENST00000542743.1_Missense_Mutation_p.P284S|SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000545952.1_Missense_Mutation_p.P284S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	367	2 X 13 AA imperfect tandem repeats.|Gln-rich.	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare).			cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CCCTGTGAAGGACCTGAAAAT	0.453			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(1099-1101)Cct>Tct		synovial sarcoma translocation, chromosome 18							130.0	113.0	119.0					18																	23612494		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612494G>A	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1099C>T	18.37:g.23612494G>A	ENSP00000414516:p.Pro367Ser					SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000545952.1_Missense_Mutation_p.P284S|SS18_ENST00000542743.1_Missense_Mutation_p.P284S|SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S	p.P367S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			10	1154	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		367			2 X 13 AA imperfect tandem repeats.|Gln-rich.	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare).	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.1099C>T	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259899	0.59321	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.34072	1.41;1.4;1.44;1.38;1.44	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	L	0.47190	1.495	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	T	0.42816	-0.9429	10	0.28530	T	0.3	-3.721	18.4141	0.90562	0.0:0.0:1.0:0.0	.	284;336;367	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	370;367;336;344;284;285;284;82	ENSP00000269137:P336S;ENSP00000438066:P344S;ENSP00000444551:P284S;ENSP00000444647:P285S;ENSP00000443097:P284S	ENSP00000269137:P336S	P	-	1	0	SS18	21866492	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.420000	0.97426	2.419000	0.82065	0.467000	0.42956	CCT		0.453	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			60	342	0	0	0	1	0	60	342				
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T	rs528031482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.002					ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(133-135)Gta>Ata		erythrocyte membrane protein band 4.1 like 4A							109.0	102.0	104.0					5																	111643154		1875	4109	5984	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111643154C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.133G>A	5.37:g.111643154C>T	ENSP00000261486:p.Val45Ile						p.V45I	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	2	409	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	45			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.133G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480657	0.44044	.	.	ENSG00000129595	ENST00000261486	D	0.82167	-1.58	5.82	4.77	0.60923	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.215065	0.37809	N	0.001931	T	0.80613	0.4656	M	0.66378	2.025	0.35913	D	0.831215	B	0.30605	0.287	B	0.23574	0.047	D	0.83844	0.0259	10	0.46703	T	0.11	.	15.5137	0.75806	0.0:0.9219:0.0:0.0781	.	45	Q9HCS5	E41LA_HUMAN	I	45	ENSP00000261486:V45I	ENSP00000261486:V45I	V	-	1	0	EPB41L4A	111671053	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	4.392000	0.59659	2.754000	0.94517	0.643000	0.83706	GTA		0.383	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			40	201	0	0	0	1	0	40	201				
SLC38A5	92745	broad.mit.edu	37	X	48317422	48317422	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48317422T>C	ENST00000376876.3	-	16	2161		c.e16-2		SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Splice_Site|SLC38A5_ENST00000317669.5_Splice_Site			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCACAGGGCCTGTGGGCCAGA	0.567																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.e16-2		solute carrier family 38, member 5							43.0	38.0	39.0					X																	48317422		2198	4278	6476	SO:0001630	splice_region_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317422T>C	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1318-2A>G	X.37:g.48317422T>C						SLC38A5_ENST00000317669.5_Splice_Site|SLC38A5_ENST00000376875.1_Splice_Site				Q8WUX1	S38A5_HUMAN			16	2161	-								B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Splice_Site	SNP	ENST00000376876.3	37		CCDS14293.1	.	.	.	.	.	.	.	.	.	.	t	11.80	1.746127	0.30955	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7927	0.52078	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A5	48202366	1.000000	0.71417	0.968000	0.41197	0.187000	0.23431	7.138000	0.77305	1.686000	0.51046	0.425000	0.28330	.		0.567	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518	Intron	7	26	0	0	0	1	0	7	26				
FNDC1	84624	broad.mit.edu	37	6	159642721	159642721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159642721G>T	ENST00000297267.9	+	6	959	c.759G>T	c.(757-759)aaG>aaT	p.K253N	FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		p.K253N(1)		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)		CAAAGCGAAAGATTTCAGGTA	0.473																																						ENST00000297267.9																			1	Substitution - Missense(1)	p.K253N(1)	large_intestine(1)	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.(757-759)aaG>aaT		fibronectin type III domain containing 1							101.0	110.0	107.0					6																	159642721		1951	4142	6093	SO:0001583	missense	84624					extracellular region		g.chr6:159642721G>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.759G>T	6.37:g.159642721G>T	ENSP00000297267:p.Lys253Asn					FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N|FNDC1_ENST00000480856.1_3'UTR	p.K253N	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)	6	959	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	253					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.759G>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.468197|2.468197	0.43839|0.43839	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08807	.|3.05;3.99	6.17|6.17	1.98|1.98	0.26296|0.26296	.|Fibronectin, type III (1);	.|0.111909	.|0.64402	.|D	.|0.000011	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.36672|0.36672	1.1|1.1	0.28380|0.28380	N|N	0.919585|0.919585	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.975	T|T	0.15093|0.15093	-1.0449|-1.0449	5|10	.|0.46703	.|T	.|0.11	-34.0927|-34.0927	6.5326|6.5326	0.22336|0.22336	0.5231:0.0:0.4769:0.0|0.5231:0.0:0.4769:0.0	.|.	.|253;253	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	Y|N	212|253	.|ENSP00000297267:K253N;ENSP00000342460:K253N	.|ENSP00000297267:K253N	D|K	+|+	1|3	0|2	FNDC1|FNDC1	159562709|159562709	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.810000|0.810000	0.45777|0.45777	1.578000|1.578000	0.36525|0.36525	0.492000|0.492000	0.27815|0.27815	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.473	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		43	154	1	0	9.14704e-12	1	9.77761e-12	43	154				
PRMT9	90826	broad.mit.edu	37	4	148575447	148575447	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148575447T>G	ENST00000322396.6	-	9	1843	c.1601A>C	c.(1600-1602)cAt>cCt	p.H534P	PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		534	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAAGCCTTCATGATATGGGAT	0.413																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1600-1602)cAt>cCt		protein arginine methyltransferase 10 (putative)							177.0	167.0	171.0					4																	148575447		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575447T>G																												ENST00000322396.6:c.1601A>C	4.37:g.148575447T>G	ENSP00000314396:p.His534Pro					TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P	p.H534P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			9	1843	-			534					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1601A>C	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122919	0.77436	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.29917	1.55;1.55	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.64237	0.923	T	0.58763	-0.7579	10	0.72032	D	0.01	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	534	Q6P2P2	ANM10_HUMAN	P	534;421	ENSP00000314396:H534P;ENSP00000439508:H421P	ENSP00000314396:H534P	H	-	2	0	PRMT10	148794897	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.374000	0.79633	2.317000	0.78254	0.459000	0.35465	CAT		0.413	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			120	495	0	0	0	1	0	120	495				
MEGF6	1953	broad.mit.edu	37	1	3432077	3432077	+	Missense_Mutation	SNP	C	C	T	rs199678946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3432077C>T	ENST00000356575.4	-	6	845	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	207	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTGCCCAGGGCGCAGGAGTTA	0.662																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(619-621)Gcc>Acc		multiple EGF-like-domains 6		C	THR/ALA	2,4226		0,2,2112	32.0	43.0	39.0		619	-1.1	0.1	1		39	12,8450		0,12,4219	yes	missense	MEGF6	NM_001409.3	58	0,14,6331	TT,TC,CC		0.1418,0.0473,0.1103	benign	207/1542	3432077	14,12676	2114	4231	6345	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3432077C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.619G>A	1.37:g.3432077C>T	ENSP00000348982:p.Ala207Thr					MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	p.A207T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	6	845	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	207			EGF-like 3.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.619G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	2.851	-0.238359	0.05944	4.73E-4	0.001418	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.96396	-4.0;-4.0	4.22	-1.12	0.09808	Epidermal growth factor-like (1);	0.348665	0.29745	N	0.011315	D	0.91546	0.7330	M	0.66378	2.025	0.09310	N	0.999997	B;B	0.27559	0.181;0.02	B;B	0.16722	0.016;0.016	T	0.79650	-0.1715	10	0.15066	T	0.55	-7.6117	3.9544	0.09383	0.2661:0.3986:0.0:0.3353	.	207;102	O75095;O75095-2	MEGF6_HUMAN;.	T	102;207	ENSP00000294599:A102T;ENSP00000348982:A207T	ENSP00000294599:A102T	A	-	1	0	MEGF6	3421937	0.000000	0.05858	0.140000	0.22221	0.415000	0.31203	-1.955000	0.01523	-0.075000	0.12798	-0.311000	0.09066	GCC		0.662	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		42	203	0	0	0	1	0	42	203				
GCM2	9247	broad.mit.edu	37	6	10877516	10877516	+	Missense_Mutation	SNP	C	C	T	rs200953294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877516C>T	ENST00000379491.4	-	2	347	c.200G>A	c.(199-201)cGc>cAc	p.R67H	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	67					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R67H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTGGTGTTGCGCATGGCCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18389	0.001		0.0	False		,,,				2504	0.0					ENST00000379491.4																			1	Substitution - Missense(1)	p.R67H(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(199-201)cGc>cAc		glial cells missing homolog 2 (Drosophila)							97.0	77.0	84.0					6																	10877516		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10877516C>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.200G>A	6.37:g.10877516C>T	ENSP00000368805:p.Arg67His					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.R67H	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			2	347	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	67					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.200G>A	CCDS4517.1	18	0.008241758241758242	4	0.008130081300813009	1	0.0027624309392265192	6	0.01048951048951049	7	0.009234828496042216	C	35	5.586507	0.96578	.	.	ENSG00000124827	ENST00000379491	T	0.80824	-1.42	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91018	0.4855	10	0.87932	D	0	-20.4115	19.8215	0.96599	0.0:1.0:0.0:0.0	.	67	O75603	GCM2_HUMAN	H	67	ENSP00000368805:R67H	ENSP00000368805:R67H	R	-	2	0	GCM2	10985502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.679000	0.91253	0.650000	0.86243	CGC		0.597	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			52	305	0	0	0	1	0	52	305				
FLG2	388698	broad.mit.edu	37	1	152323365	152323365	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323365T>C	ENST00000388718.5	-	3	6969	c.6897A>G	c.(6895-6897)ggA>ggG	p.G2299G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2299					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGTCTGTCCATGAGTAG	0.478																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6895-6897)ggA>ggG		filaggrin family member 2							305.0	275.0	285.0					1																	152323365		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152323365T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6897A>G	1.37:g.152323365T>C						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G2299G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6969	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2299					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6897A>G	CCDS30861.1																																																																																				0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		269	1252	0	0	0	1	0	269	1252				
HK1	3098	broad.mit.edu	37	10	71142486	71142486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71142486G>A	ENST00000359426.6	+	10	1613	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.T502T|HK1_ENST00000360289.2_Silent_p.T491T|HK1_ENST00000448642.2_Silent_p.T538T|HK1_ENST00000404387.2_Silent_p.T507T	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	503	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.T507T(1)|p.T502T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAAGCAGACGCACAACAATG	0.617																																						ENST00000448642.2																			2	Substitution - coding silent(2)	p.T507T(1)|p.T502T(1)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1612-1614)acG>acA		hexokinase 1							101.0	75.0	84.0					10																	71142486		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71142486G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1509G>A	10.37:g.71142486G>A						HK1_ENST00000298649.3_Silent_p.T502T|HK1_ENST00000359426.6_Silent_p.T503T|HK1_ENST00000404387.2_Silent_p.T507T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Silent_p.T491T	p.T538T			P19367	HXK1_HUMAN			15	2003	+			503			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.1614G>A	CCDS7292.1																																																																																				0.617	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		33	129	0	0	0	1	0	33	129				
SCN7A	6332	broad.mit.edu	37	2	167262289	167262289	+	Missense_Mutation	SNP	G	G	A	rs374349539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262289G>A	ENST00000409855.1	-	25	4976	c.4850C>T	c.(4849-4851)aCg>aTg	p.T1617M		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1617					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CAAAGTAGTCGTAATTGGCTC	0.378																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4849-4851)aCg>aTg		sodium channel, voltage-gated, type VII, alpha subunit		G	MET/THR	0,3752		0,0,1876	152.0	146.0	148.0		4850	4.0	1.0	2		148	1,8211		0,1,4105	no	missense	SCN7A	NM_002976.3	81	0,1,5981	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	1617/1683	167262289	1,11963	1876	4106	5982	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262289G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4850C>T	2.37:g.167262289G>A	ENSP00000386796:p.Thr1617Met						p.T1617M	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4976	-			1617						Missense_Mutation	SNP	ENST00000409855.1	37	c.4850C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284154	0.59867	0.0	1.22E-4	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97066	-4.23	3.95	3.95	0.45737	.	0.000000	0.56097	D	0.000025	D	0.98118	0.9379	M	0.78049	2.395	0.38018	D	0.934745	D	0.89917	1.0	D	0.85130	0.997	D	0.99880	1.1112	10	0.87932	D	0	.	14.3194	0.66476	0.0:0.0:1.0:0.0	.	1617	Q01118	SCN7A_HUMAN	M	1617	ENSP00000386796:T1617M	ENSP00000259060:T1617M	T	-	2	0	SCN7A	166970535	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.518000	0.60510	2.514000	0.84764	0.655000	0.94253	ACG		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			33	741	0	0	0	1	0	33	741				
SLCO6A1	133482	broad.mit.edu	37	5	101834238	101834238	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101834238T>C	ENST00000506729.1	-	1	482	c.311A>G	c.(310-312)aAc>aGc	p.N104S	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	104	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCAGCGAATGTTATTGCAACA	0.537																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(310-312)aAc>aGc		solute carrier organic anion transporter family, member 6A1							91.0	90.0	91.0					5																	101834238		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834238T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.311A>G	5.37:g.101834238T>C	ENSP00000421339:p.Asn104Ser					SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S	p.N104S			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	482	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	104			Cys-rich.		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.311A>G	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999617	0.35320	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46819	0.93;0.93;0.95;0.86;0.86	3.52	-0.11	0.13580	.	0.406962	0.21428	N	0.074706	T	0.47911	0.1471	L	0.32530	0.975	0.09310	N	1	D;P;D	0.65815	0.995;0.799;0.968	D;B;P	0.66716	0.946;0.12;0.507	T	0.32134	-0.9918	10	0.48119	T	0.1	.	5.7854	0.18331	0.0:0.3383:0.0:0.6617	.	104;104;104	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	104	ENSP00000421339:N104S;ENSP00000369135:N104S;ENSP00000373671:N104S;ENSP00000421990:N104S;ENSP00000369138:N104S	ENSP00000369135:N104S	N	-	2	0	SLCO6A1	101862137	0.001000	0.12720	0.010000	0.14722	0.051000	0.14879	-0.108000	0.10857	-0.017000	0.14103	0.397000	0.26171	AAC		0.537	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		90	420	0	0	0	1	0	90	420				
ARFGEF1	10565	broad.mit.edu	37	8	68123756	68123756	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68123756G>T	ENST00000262215.3	-	34	5170	c.4781C>A	c.(4780-4782)gCt>gAt	p.A1594D	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1594					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATTAACAGCAGACGCAGA	0.328																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4780-4782)gCt>gAt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							55.0	56.0	56.0					8																	68123756		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68123756G>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4781C>A	8.37:g.68123756G>T	ENSP00000262215:p.Ala1594Asp					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D	p.A1594D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		34	5170	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1594					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4781C>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	1.780	-0.482276	0.04383	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.43688	2.94;2.11;0.94	5.29	4.18	0.49190	.	0.940533	0.08909	N	0.876178	T	0.18593	0.0446	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.14438	0.01;0.004;0.004	B;B;B	0.15484	0.013;0.004;0.004	T	0.20405	-1.0276	10	0.13108	T	0.6	.	6.2718	0.20959	0.1256:0.0:0.6963:0.1781	.	1594;1072;1048	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	D	1048;1594;432	ENSP00000428429:A1048D;ENSP00000262215:A1594D;ENSP00000430891:A432D	ENSP00000262215:A1594D	A	-	2	0	ARFGEF1	68286310	0.378000	0.25114	0.985000	0.45067	0.105000	0.19272	1.906000	0.39887	2.631000	0.89168	0.655000	0.94253	GCT		0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		18	255	1	0	7.07596e-05	1	7.20791e-05	18	255				
OR52L1	338751	broad.mit.edu	37	11	6007343	6007343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6007343C>T	ENST00000332249.4	-	1	872	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAAAATTCCAGGGACATA	0.512																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(817-819)gGa>gAa		olfactory receptor, family 52, subfamily L, member 1							121.0	122.0	122.0					11																	6007343		2064	4240	6304	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007343C>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.818G>A	11.37:g.6007343C>T	ENSP00000330338:p.Gly273Glu						p.G273E	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	872	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	273					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.818G>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.832108	0.32421	.	.	ENSG00000183313	ENST00000332249	T	0.37058	1.22	4.1	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000651	T	0.55784	0.1942	M	0.71920	2.185	0.27952	N	0.937101	D	0.89917	1.0	D	0.97110	1.0	T	0.48736	-0.9009	10	0.87932	D	0	.	11.3353	0.49500	0.0:0.6675:0.3325:0.0	.	273	Q8NGH7	O52L1_HUMAN	E	273	ENSP00000330338:G273E	ENSP00000330338:G273E	G	-	2	0	OR52L1	5963919	0.000000	0.05858	1.000000	0.80357	0.310000	0.27922	-1.994000	0.01474	1.987000	0.57996	0.313000	0.20887	GGA		0.512	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		46	247	0	0	0	1	0	46	247				
RNF123	63891	broad.mit.edu	37	3	49753080	49753080	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753080G>T	ENST00000327697.6	+	32	3227	c.3083G>T	c.(3082-3084)aGc>aTc	p.S1028I	RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1028					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTGGCACCCAGCTTCCTCAAC	0.612																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3082-3084)aGc>aTc		ring finger protein 123							92.0	81.0	85.0					3																	49753080		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753080G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3083G>T	3.37:g.49753080G>T	ENSP00000328287:p.Ser1028Ile					RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	p.S1028I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	32	3227	+			1028					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.3083G>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299999	0.81136	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.63744	-0.06;-0.06	5.69	5.69	0.88448	.	0.082938	0.85682	D	0.000000	T	0.78342	0.4268	M	0.68952	2.095	0.54753	D	0.999988	D	0.71674	0.998	D	0.75484	0.986	T	0.76966	-0.2763	10	0.45353	T	0.12	-32.0057	18.7944	0.91988	0.0:0.0:1.0:0.0	.	1028	Q5XPI4	RN123_HUMAN	I	1028;1028;140	ENSP00000328287:S1028I;ENSP00000416156:S140I	ENSP00000328287:S1028I	S	+	2	0	RNF123	49728084	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.996000	0.76263	2.679000	0.91253	0.655000	0.94253	AGC		0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		46	213	1	0	1.23713e-20	1	1.38774e-20	46	213				
RAPGEF6	51735	broad.mit.edu	37	5	130840413	130840413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130840413G>A	ENST00000509018.1	-	11	1365	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	387					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTTTATGGGTATTTTTTTC	0.418																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1159-1161)aCc>aTc		Rap guanine nucleotide exchange factor (GEF) 6							155.0	143.0	147.0					5																	130840413		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130840413G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1160C>T	5.37:g.130840413G>A	ENSP00000421684:p.Thr387Ile					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I|FNIP1_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I	p.T387I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	11	1365	-			387					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1160C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381312	0.42207	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.0	5.0	0.66597	Ras guanine nucleotide exchange factor, domain (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;P;B	0.36378	0.415;0.059;0.194;0.123;0.435;0.55;0.063	B;B;B;B;B;B;B	0.41988	0.081;0.031;0.143;0.1;0.157;0.372;0.1	T	0.03981	-1.0987	10	0.28530	T	0.3	.	18.2856	0.90113	0.0:0.0:1.0:0.0	.	387;387;387;102;437;387;387	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	I	387;387;387;387;387;102;387;387;437	ENSP00000421684:T387I;ENSP00000309298:T387I;ENSP00000426081:T387I;ENSP00000296859:T387I;ENSP00000426910:T102I;ENSP00000311419:T387I;ENSP00000425389:T387I;ENSP00000426948:T437I	ENSP00000426948:T437I	T	-	2	0	RAPGEF6;FNIP1	130868312	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.785000	0.68998	2.324000	0.78689	0.313000	0.20887	ACC		0.418	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		91	302	0	0	0	1	0	91	302				
GAS6	2621	broad.mit.edu	37	13	114531617	114531617	+	Missense_Mutation	SNP	G	G	A	rs146140804	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114531617G>A	ENST00000327773.6	-	11	1357	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.A350V|GAS6_ENST00000357389.3_Missense_Mutation_p.A447V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	447	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCCGGCCACCGCGATTTTCAT	0.557																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1339-1341)gCg>gTg		growth arrest-specific 6			VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	127.0	115.0	119.0		1211,392,314	4.1	0.5	13	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	64,64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	404/679,131/406,105/380	114531617	2,13004	2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114531617G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1211C>T	13.37:g.114531617G>A	ENSP00000331831:p.Ala404Val					GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.A350V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V|GAS6_ENST00000327773.6_Missense_Mutation_p.A404V	p.A447V			Q14393	GAS6_HUMAN			11	1492	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	447			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1340C>T	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.862531	0.32884	2.27E-4	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.72630	0.3484	M	0.76838	2.35	0.58432	D	0.999999	P;P;D	0.63046	0.592;0.821;0.992	B;B;B	0.40565	0.041;0.187;0.333	T	0.74542	-0.3631	9	0.39692	T	0.17	-30.638	13.2677	0.60144	0.0772:0.0:0.9228:0.0	.	447;131;404	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	V	447;350;131;105;404	ENSP00000349962:A447V;ENSP00000348003:A350V;ENSP00000416498:A131V;ENSP00000400117:A105V;ENSP00000331831:A404V	ENSP00000331831:A404V	A	-	2	0	GAS6	113582326	1.000000	0.71417	0.483000	0.27378	0.588000	0.36517	6.843000	0.75384	1.076000	0.40961	0.550000	0.68814	GCG		0.557	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		74	315	0	0	0	1	0	74	315				
EPHA2	1969	broad.mit.edu	37	1	16464503	16464503	+	Missense_Mutation	SNP	G	G	A	rs141027815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464503G>A	ENST00000358432.5	-	5	1311	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	386	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGGAGGCTCCGAGTAGCGCAC	0.647																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1156-1158)tCg>tTg		EPH receptor A2	Dasatinib(DB01254)	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	56.0	49.0	51.0		1157	5.0	1.0	1	dbSNP_134	51	0,8600		0,0,4300	no	missense	EPHA2	NM_004431.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	386/977	16464503	1,13005	2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464503G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1157C>T	1.37:g.16464503G>A	ENSP00000351209:p.Ser386Leu						p.S386L	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1311	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	386			Fibronectin type-III 1.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1157C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	5.047	0.194330	0.09599	2.27E-4	0.0	ENSG00000142627	ENST00000358432	T	0.58940	0.3	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.143571	0.32473	N	0.006045	T	0.46171	0.1379	L	0.37697	1.125	0.47441	D	0.999424	P;P	0.50819	0.939;0.699	B;B	0.39840	0.311;0.055	T	0.40136	-0.9579	10	0.20046	T	0.44	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	386;386	B5A968;P29317	.;EPHA2_HUMAN	L	386	ENSP00000351209:S386L	ENSP00000351209:S386L	S	-	2	0	EPHA2	16337090	0.985000	0.35326	0.959000	0.39883	0.015000	0.08874	2.177000	0.42509	2.488000	0.83962	0.561000	0.74099	TCG		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		28	129	0	0	0	1	0	28	129				
SLC25A16	8034	broad.mit.edu	37	10	70248346	70248346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70248346C>T	ENST00000609923.1	-	7	749	c.651G>A	c.(649-651)ggG>ggA	p.G217G	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.G119G	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	217					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CATGGGAAAGCCCAACACTCT	0.373																																						ENST00000265870.2																			0				endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						c.(649-651)ggG>ggA		solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16							78.0	72.0	74.0					10																	70248346		2203	4300	6503	SO:0001819	synonymous_variant	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70248346C>T	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.651G>A	10.37:g.70248346C>T						SLC25A16_ENST00000539557.1_Silent_p.G119G|SLC25A16_ENST00000493963.1_5'UTR	p.G217G	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN			7	749	-			217					Q8N2U1	Silent	SNP	ENST00000609923.1	37	c.651G>A	CCDS7280.1																																																																																				0.373	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			34	164	0	0	0	1	0	34	164				
TET1	80312	broad.mit.edu	37	10	70450655	70450655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70450655C>T	ENST00000373644.4	+	12	5704	c.5495C>T	c.(5494-5496)tCg>tTg	p.S1832L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1832					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAACTTATTCGCTGATGCCA	0.478																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5494-5496)tCg>tTg		tet methylcytosine dioxygenase 1							95.0	96.0	96.0					10																	70450655		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70450655C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5495C>T	10.37:g.70450655C>T	ENSP00000362748:p.Ser1832Leu						p.S1832L	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	5704	+			1832					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.5495C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751989	0.69533	.	.	ENSG00000138336	ENST00000373644	T	0.09817	2.94	5.22	4.28	0.50868	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	4.198170	0.01460	U	0.015833	T	0.30541	0.0768	M	0.73217	2.22	0.30325	N	0.787173	D	0.71674	0.998	P	0.55161	0.77	T	0.03249	-1.1056	10	0.87932	D	0	.	10.711	0.45984	0.0:0.9064:0.0:0.0936	.	1832	Q8NFU7	TET1_HUMAN	L	1832	ENSP00000362748:S1832L	ENSP00000362748:S1832L	S	+	2	0	TET1	70120661	0.957000	0.32711	0.121000	0.21740	0.847000	0.48162	2.761000	0.47589	1.121000	0.41925	0.655000	0.94253	TCG		0.478	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		124	527	0	0	0	1	0	124	527				
KIF23	9493	broad.mit.edu	37	15	69718750	69718750	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69718750A>C	ENST00000260363.4	+	9	1040	c.923A>C	c.(922-924)aAa>aCa	p.K308T	KIF23_ENST00000559279.1_Missense_Mutation_p.K308T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	308	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCAACATTAAATTAGTTCAG	0.403																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(922-924)aAa>aCa		kinesin family member 23							217.0	206.0	210.0					15																	69718750		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69718750A>C	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.923A>C	15.37:g.69718750A>C	ENSP00000260363:p.Lys308Thr					KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000559279.1_Missense_Mutation_p.K308T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T	p.K308T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			9	1040	+			308			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.923A>C	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004930	0.74932	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.53	4.4	0.53042	Kinesin, motor domain (5);	0.044773	0.85682	D	0.000000	T	0.70692	0.3253	N	0.12831	0.26	0.58432	D	0.999999	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.83275	0.948;0.996;0.989	T	0.65038	-0.6265	10	0.13853	T	0.58	.	10.8694	0.46875	0.9254:0.0:0.0746:0.0	.	125;308;308	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	308;308;308;125	ENSP00000260363:K308T;ENSP00000304978:K308T;ENSP00000378790:K308T;ENSP00000442969:K125T	ENSP00000260363:K308T	K	+	2	0	KIF23	67505804	1.000000	0.71417	0.787000	0.31911	0.964000	0.63967	6.190000	0.72057	0.910000	0.36722	0.533000	0.62120	AAA		0.403	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				238	925	0	0	0	1	0	238	925				
WDR86	349136	broad.mit.edu	37	7	151097270	151097270	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151097270C>A	ENST00000334493.6	-	2	651	c.221G>T	c.(220-222)aGc>aTc	p.S74I	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.S74I	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	74										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTCGGCGCTGCATGTGAA	0.607																																						ENST00000334493.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(220-222)aGc>aTc		WD repeat domain 86							40.0	43.0	42.0					7																	151097270		2178	4268	6446	SO:0001583	missense	349136							g.chr7:151097270C>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.221G>T	7.37:g.151097270C>A	ENSP00000335522:p.Ser74Ile					WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.S74I	p.S74I	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	651	-			74					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.221G>T	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262929	0.80358	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.74526	-0.85;-0.85	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	D	0.90940	0.7152	H	0.96943	3.91	0.39221	D	0.963495	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.981	D	0.94693	0.7876	9	0.87932	D	0	-20.8032	16.8851	0.86074	0.0:1.0:0.0:0.0	.	74;74;32	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	I	74	ENSP00000335522:S74I;ENSP00000419162:S74I	ENSP00000335522:S74I	S	-	2	0	WDR86	150728203	0.998000	0.40836	0.993000	0.49108	0.941000	0.58515	4.153000	0.58118	2.311000	0.77944	0.585000	0.79938	AGC		0.607	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		11	111	1	0	0.00829132	1	0.00834067	11	111				
DMGDH	29958	broad.mit.edu	37	5	78351653	78351653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78351653G>A	ENST00000255189.3	-	3	383	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	119					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCTTCTTCCAGTTTCTCATAA	0.353																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(355-357)Ctg>Ttg		dimethylglycine dehydrogenase							93.0	96.0	95.0					5																	78351653		2202	4298	6500	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78351653G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.355C>T	5.37:g.78351653G>A						DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	p.L119L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	3	383	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	119					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.355C>T	CCDS4044.1																																																																																				0.353	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		31	152	0	0	0	1	0	31	152				
ZCWPW1	55063	broad.mit.edu	37	7	100006173	100006173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006173G>A	ENST00000398027.2	-	10	1225	c.978C>T	c.(976-978)taC>taT	p.Y326Y	ZCWPW1_ENST00000360951.4_Silent_p.Y327Y|ZCWPW1_ENST00000490721.1_Silent_p.Y206Y|ZCWPW1_ENST00000324725.6_Silent_p.Y206Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	326	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGTAACCGTATTGCTTGG	0.498																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(976-978)taC>taT		zinc finger, CW type with PWWP domain 1							153.0	148.0	149.0					7																	100006173		2004	4163	6167	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:100006173G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.978C>T	7.37:g.100006173G>A						ZCWPW1_ENST00000324725.6_Silent_p.Y206Y|ZCWPW1_ENST00000360951.4_Silent_p.Y327Y|ZCWPW1_ENST00000490721.1_Silent_p.Y206Y	p.Y326Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			10	1225	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		326			PWWP.		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.978C>T	CCDS43623.1																																																																																				0.498	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		92	421	0	0	0	1	0	92	421				
SLC34A3	142680	broad.mit.edu	37	9	140128134	140128134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128134G>T	ENST00000538474.1	+	8	1030	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	269					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCACTAACAGCAGTCTCATT	0.627																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(805-807)aGc>aTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							82.0	80.0	80.0					9																	140128134		2203	4300	6503	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128134G>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.806G>T	9.37:g.140128134G>T	ENSP00000442397:p.Ser269Ile					SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	8	1030	+	all_cancers(76;0.0926)		269					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.806G>T	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	7.457	0.643950	0.14451	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.32753	1.44;1.44	3.05	2.13	0.27403	.	0.761983	0.11378	N	0.570085	T	0.23330	0.0564	L	0.47190	1.495	0.24118	N	0.995812	P	0.38335	0.627	B	0.31614	0.133	T	0.10823	-1.0613	10	0.54805	T	0.06	-3.5643	7.8826	0.29631	0.1326:0.0:0.8674:0.0	.	269	Q8N130	NPT2C_HUMAN	I	269	ENSP00000442397:S269I;ENSP00000355353:S269I	ENSP00000355353:S269I	S	+	2	0	SLC34A3	139247955	0.937000	0.31787	0.618000	0.29105	0.024000	0.10985	2.459000	0.45023	0.591000	0.29711	0.462000	0.41574	AGC		0.627	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		59	461	1	0	9.10829e-22	1	1.02804e-21	59	461				
MACF1	23499	broad.mit.edu	37	1	39798740	39798740	+	Missense_Mutation	SNP	T	T	A	rs377755332	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39798740T>A	ENST00000372915.3	+	36	6582	c.6495T>A	c.(6493-6495)caT>caA	p.H2165Q	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000564288.1_Missense_Mutation_p.H2160Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2165					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGAACATCAACCTCTAA	0.433																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6478-6480)caT>caA		microtubule-actin crosslinking factor 1							61.0	62.0	61.0					1																	39798740		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798740T>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6495T>A	1.37:g.39798740T>A	ENSP00000362006:p.His2165Gln					MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000372915.3_Missense_Mutation_p.H2165Q|MACF1_ENST00000361689.2_Intron	p.H2160Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7257	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2165					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6480T>A		.	.	.	.	.	.	.	.	.	.	T	0.026	-1.366911	0.01225	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60672	0.17;1.27	5.92	2.84	0.33178	.	1.286490	0.05217	N	0.507867	T	0.41766	0.1173	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.26395	-1.0104	10	0.20519	T	0.43	.	9.7105	0.40243	0.0:0.4105:0.43:0.1595	.	2165	Q9UPN3	MACF1_HUMAN	Q	2165;600	ENSP00000362006:H2165Q;ENSP00000289893:H600Q	ENSP00000289893:H600Q	H	+	3	2	MACF1	39571327	0.000000	0.05858	0.038000	0.18304	0.040000	0.13550	0.299000	0.19138	0.308000	0.22923	0.383000	0.25322	CAT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		20	272	0	0	0	1	0	20	272				
PNPLA1	285848	broad.mit.edu	37	6	36262089	36262089	+	Silent	SNP	C	C	T	rs187453727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36262089C>T	ENST00000394571.2	+	4	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	209					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622													C|||	7	0.00139776	0.0	0.0	5008	,	,		18421	0.0069		0.0	False		,,,				2504	0.0					ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(625-627)caC>caT		patatin-like phospholipase domain containing 1							103.0	83.0	90.0					6																	36262089		2203	4300	6503	SO:0001819	synonymous_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36262089C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.627C>T	6.37:g.36262089C>T						PNPLA1_ENST00000388715.3_Silent_p.H114H|PNPLA1_ENST00000312917.5_Silent_p.H123H	p.H209H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			4	627	+			209					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	37	c.627C>T	CCDS54997.1																																																																																				0.622	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		79	348	0	0	0	1	0	79	348				
EPN3	55040	broad.mit.edu	37	17	48618173	48618173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48618173G>A	ENST00000268933.3	+	7	1578	c.999G>A	c.(997-999)gaG>gaA	p.E333E	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.E361E|EPN3_ENST00000541226.1_Missense_Mutation_p.R221K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	333	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGAACACAGAGGCCAGTGGAT	0.617																																						ENST00000541226.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(661-663)aGg>aAg		epsin 3							57.0	58.0	58.0					17																	48618173		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48618173G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.999G>A	17.37:g.48618173G>A						EPN3_ENST00000537145.1_Silent_p.E361E|EPN3_ENST00000268933.3_Silent_p.E333E	p.R221K			Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		6	991	+	Breast(11;1.23e-18)		411					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.662G>A	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078386	0.36662	.	.	ENSG00000049283	ENST00000541226	T	0.40756	1.02	5.23	2.1	0.27182	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.23082	N	0.998326	.	.	.	.	.	.	T	0.27938	-1.0059	6	0.06625	T	0.88	-7.9673	1.5035	0.02481	0.2435:0.145:0.4619:0.1496	.	.	.	.	K	221	ENSP00000440540:R221K	ENSP00000440540:R221K	R	+	2	0	EPN3	45973172	0.069000	0.21087	0.996000	0.52242	0.866000	0.49608	0.119000	0.15626	0.216000	0.20781	0.555000	0.69702	AGG		0.617	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		58	293	0	0	0	1	0	58	293				
BSCL2	26580	broad.mit.edu	37	11	62472966	62472966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62472966C>T	ENST00000403550.1	-	2	442	c.19G>A	c.(19-21)Gta>Ata	p.V7I	HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Missense_Mutation_p.V7I|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000421906.1_Missense_Mutation_p.V7I|BSCL2_ENST00000278893.7_Missense_Mutation_p.V7I|BSCL2_ENST00000405837.1_Missense_Mutation_p.V71I|GNG3_ENST00000294117.5_5'Flank|BSCL2_ENST00000433053.1_Missense_Mutation_p.V71I|BSCL2_ENST00000360796.5_Missense_Mutation_p.V71I			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	7					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGGCAGGTACTGGAGGGTCG	0.657																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(211-213)Gta>Ata		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							50.0	48.0	49.0					11																	62472966		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62472966C>T		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.19G>A	11.37:g.62472966C>T	ENSP00000385561:p.Val7Ile					BSCL2_ENST00000421906.1_Missense_Mutation_p.V7I|BSCL2_ENST00000405837.1_Missense_Mutation_p.V71I|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.V71I|BSCL2_ENST00000403550.1_Missense_Mutation_p.V7I|BSCL2_ENST00000278893.7_Missense_Mutation_p.V7I|BSCL2_ENST00000407022.3_Missense_Mutation_p.V7I	p.V71I			Q96G97	BSCL2_HUMAN			3	767	-			7					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.211G>A	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111980	0.56398	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982;ENST00000532818;ENST00000464544	D;D;D;D;D;D;D;D;D;D	0.90069	-2.57;-2.56;-2.61;-2.56;-2.56;-2.56;-2.56;-2.46;-1.78;-1.69	5.05	3.07	0.35406	.	0.205171	0.30771	U	0.008904	T	0.79375	0.4435	N	0.24115	0.695	0.25326	N	0.989077	B;B;B;B	0.26809	0.16;0.049;0.054;0.02	B;B;B;B	0.21708	0.036;0.023;0.026;0.01	T	0.70745	-0.4788	10	0.72032	D	0.01	-13.0931	7.9172	0.29825	0.1834:0.6397:0.1769:0.0	.	7;7;71;7	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	I	71;71;7;71;7;7;7;7;71;7;71;71	ENSP00000385332:V71I;ENSP00000414002:V71I;ENSP00000278893:V7I;ENSP00000354032:V71I;ENSP00000385561:V7I;ENSP00000384080:V7I;ENSP00000413209:V7I;ENSP00000413340:V7I;ENSP00000433888:V71I;ENSP00000434149:V7I	ENSP00000278893:V7I	V	-	1	0	BSCL2	62229542	0.966000	0.33281	0.869000	0.34112	0.925000	0.55904	1.004000	0.29822	0.647000	0.30713	0.462000	0.41574	GTA		0.657	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		38	133	0	0	0	1	0	38	133				
SIAH2	6478	broad.mit.edu	37	3	150460414	150460414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460414G>A	ENST00000312960.3	-	2	1016	c.489C>T	c.(487-489)taC>taT	p.Y163Y		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	163	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTAGGGACGGTATTCACATA	0.527																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(487-489)taC>taT		siah E3 ubiquitin protein ligase 2							119.0	102.0	108.0					3																	150460414		2203	4300	6503	SO:0001819	synonymous_variant	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460414G>A	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.489C>T	3.37:g.150460414G>A							p.Y163Y	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1016	-			163			SBD.		O43270	Silent	SNP	ENST00000312960.3	37	c.489C>T	CCDS3152.1																																																																																				0.527	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		67	278	0	0	0	1	0	67	278				
EIF4A3	9775	broad.mit.edu	37	17	78120716	78120716	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78120716C>T	ENST00000269349.3	-	1	266	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	15					ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGAGCAGCCGCTTTCGCGCCG	0.652																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(43-45)aaG>aaA		eukaryotic translation initiation factor 4A3							35.0	30.0	32.0					17																	78120716		2203	4295	6498	SO:0001819	synonymous_variant	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78120716C>T	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.45G>A	17.37:g.78120716C>T							p.K15K	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		1	266	-	all_neural(118;0.117)		15					Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	c.45G>A	CCDS11767.1																																																																																				0.652	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		67	207	0	0	0	1	0	67	207				
KIAA1804	84451	broad.mit.edu	37	1	233514763	233514763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233514763G>A	ENST00000366624.3	+	9	2272	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	MLK4_ENST00000366622.1_Missense_Mutation_p.D117N	NM_032435.2	NP_115811.2																					GGCCTACATTGATCTACCTCT	0.453																																						ENST00000366624.3																			0											c.(2011-2013)Gat>Aat									65.0	71.0	69.0					1																	233514763		2203	4300	6503	SO:0001583	missense	0							g.chr1:233514763G>A																												ENST00000366624.3:c.2011G>A	1.37:g.233514763G>A	ENSP00000355583:p.Asp671Asn					MLK4_ENST00000366622.1_Missense_Mutation_p.D117N	p.D671N	NM_032435.2	NP_115811.2					9	2272	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.2011G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111901	0.20714	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.28895	1.59;1.59	4.95	4.95	0.65309	.	0.136762	0.48286	D	0.000184	T	0.21103	0.0508	L	0.38175	1.15	0.32047	N	0.59739	P;B	0.50272	0.933;0.004	P;B	0.45406	0.479;0.005	T	0.10474	-1.0628	10	0.02654	T	1	.	7.3576	0.26727	0.0905:0.0:0.7397:0.1697	.	118;671	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	N	671;117	ENSP00000355583:D671N;ENSP00000355581:D117N	ENSP00000355581:D117N	D	+	1	0	RP5-862P8.2	231581386	1.000000	0.71417	0.880000	0.34516	0.951000	0.60555	4.696000	0.61774	2.575000	0.86900	0.655000	0.94253	GAT		0.453	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			34	422	0	0	0	1	0	34	422				
DOCK2	1794	broad.mit.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169474616C>T	ENST00000256935.8	+	40	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1357W(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTCCTGCGGGTGAGTTT	0.542																																						ENST00000256935.8																			1	Substitution - Missense(1)	p.R1357W(1)	kidney(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4069-4071)Cgg>Tgg		dedicator of cytokinesis 2							68.0	68.0	68.0					5																	169474616		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169474616C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4069C>T	5.37:g.169474616C>T	ENSP00000256935:p.Arg1357Trp					DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W	p.R1357W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4149	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1357			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4069C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983404	0.74474	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.12465	3.34;2.96;2.68	5.21	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.92507	3.315	0.41599	D	0.988849	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60811	-0.7189	10	0.87932	D	0	.	14.8729	0.70471	0.1947:0.8053:0.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1357;849;418	ENSP00000256935:R1357W;ENSP00000429283:R849W;ENSP00000438827:R418W	ENSP00000256935:R1357W	R	+	1	2	DOCK2	169407194	0.901000	0.30685	1.000000	0.80357	0.859000	0.49053	1.258000	0.32944	2.419000	0.82065	0.561000	0.74099	CGG		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		44	217	0	0	0	1	0	44	217				
DIP2A	23181	broad.mit.edu	37	21	47918539	47918539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47918539G>A	ENST00000417564.2	+	5	469	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	DIP2A_ENST00000318711.7_Missense_Mutation_p.G150R|DIP2A_ENST00000466639.1_Missense_Mutation_p.G150R|DIP2A_ENST00000427143.2_Missense_Mutation_p.G86R|DIP2A_ENST00000435722.3_Missense_Mutation_p.G150R|DIP2A_ENST00000400274.1_Missense_Mutation_p.G150R|DIP2A_ENST00000457905.3_Missense_Mutation_p.G150R			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	150					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACGGCGACCCGGGCGACTCAC	0.587																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(448-450)Ggg>Agg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							120.0	138.0	132.0					21																	47918539		2130	4229	6359	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918539G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.448G>A	21.37:g.47918539G>A	ENSP00000392066:p.Gly150Arg					DIP2A_ENST00000435722.3_Missense_Mutation_p.G150R|DIP2A_ENST00000400274.1_Missense_Mutation_p.G150R|DIP2A_ENST00000417564.2_Missense_Mutation_p.G150R|DIP2A_ENST00000457905.3_Missense_Mutation_p.G150R|DIP2A_ENST00000466639.1_Missense_Mutation_p.G150R|DIP2A_ENST00000427143.2_Missense_Mutation_p.G86R	p.G150R	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	631	+	Breast(49;0.0933)		150					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.448G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786331	0.90367	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.26373	1.88;1.9;1.88;1.88;1.74;1.85;1.88	5.54	5.54	0.83059	.	6.464190	0.00682	N	0.000689	T	0.58235	0.2108	M	0.70595	2.14	0.80722	D	1	D;D;D;P;D;D	0.76494	0.984;0.984;0.999;0.789;0.981;0.999	P;P;P;B;P;D	0.66497	0.573;0.573;0.887;0.203;0.593;0.944	T	0.25502	-1.0130	10	0.45353	T	0.12	-26.9454	18.466	0.90755	0.0:0.0:1.0:0.0	.	150;86;150;150;150;150	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	R	150;86;150;150;150;150;150;150	ENSP00000383133:G150R;ENSP00000400528:G86R;ENSP00000323633:G150R;ENSP00000393434:G150R;ENSP00000430249:G150R;ENSP00000415089:G150R;ENSP00000392066:G150R	ENSP00000323633:G150R	G	+	1	0	DIP2A	46742967	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	7.797000	0.85911	2.601000	0.87937	0.650000	0.86243	GGG		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		14	850	0	0	0	1	0	14	850				
UBXN4	23190	broad.mit.edu	37	2	136533888	136533888	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136533888T>G	ENST00000272638.9	+	10	1331	c.1020T>G	c.(1018-1020)gcT>gcG	p.A340A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	340	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTCTGATGCTCCTCTAGAAG	0.358																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1018-1020)gcT>gcG		UBX domain protein 4							123.0	110.0	114.0					2																	136533888		1838	4092	5930	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136533888T>G	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1020T>G	2.37:g.136533888T>G						UBXN4_ENST00000490163.1_3'UTR	p.A340A	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			10	1331	+			340			UBX.		A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.1020T>G	CCDS42761.1																																																																																				0.358	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		75	175	0	0	0	1	0	75	175				
C2CD3	26005	broad.mit.edu	37	11	73803472	73803472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73803472T>C	ENST00000334126.7	-	19	3732	c.3506A>G	c.(3505-3507)aAc>aGc	p.N1169S	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1169S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1169	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGATGACTGGTTCCTCAATTC	0.398																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(3505-3507)aAc>aGc		C2 calcium-dependent domain containing 3							126.0	121.0	123.0					11																	73803472		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73803472T>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3506A>G	11.37:g.73803472T>C	ENSP00000334379:p.Asn1169Ser					C2CD3_ENST00000313663.7_Missense_Mutation_p.N1169S	p.N1169S			Q4AC94	C2CD3_HUMAN			19	3732	-	Breast(11;4.16e-06)		1169			C2 1.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.3506A>G		.	.	.	.	.	.	.	.	.	.	T	1.677	-0.507468	0.04231	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.08546	3.08;3.08	5.4	1.74	0.24563	.	0.660446	0.16439	N	0.214374	T	0.02012	0.0063	N	0.02011	-0.69	0.24298	N	0.995133	B	0.02656	0.0	B	0.04013	0.001	T	0.43163	-0.9408	10	0.06365	T	0.9	-7.8523	1.3094	0.02094	0.123:0.1822:0.2526:0.4423	.	1169	Q4AC94-1	.	S	1169	ENSP00000334379:N1169S;ENSP00000323339:N1169S	ENSP00000323339:N1169S	N	-	2	0	C2CD3	73481120	0.998000	0.40836	0.954000	0.39281	0.890000	0.51754	0.780000	0.26760	0.333000	0.23563	0.363000	0.22086	AAC		0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		130	464	0	0	0	1	0	130	464				
ZMYND8	23613	broad.mit.edu	37	20	45849995	45849995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45849995C>T	ENST00000311275.7	-	20	3580	c.3327G>A	c.(3325-3327)acG>acA	p.T1109T	ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000446994.2_Silent_p.T1000T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000396281.4_Silent_p.T1109T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000536340.1_Silent_p.T1136T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1109					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCTCAGCTGACGTCTCCTTCT	0.542																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(3325-3327)acG>acA		zinc finger, MYND-type containing 8							133.0	106.0	115.0					20																	45849995		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45849995C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3327G>A	20.37:g.45849995C>T						ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000536340.1_Silent_p.T1136T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000396281.4_Silent_p.T1109T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000446994.2_Silent_p.T1000T	p.T1109T			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		20	3580	-			1109					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.3327G>A		.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214812	0.01555	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.08576	-1.0715	4	.	.	.	-5.7982	1.1673	0.01818	0.1808:0.2182:0.1965:0.4045	.	.	.	.	I	991	.	.	V	-	1	0	ZMYND8	45283402	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.175000	0.00571	-2.813000	0.00347	-2.259000	0.00280	GTC		0.542	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		67	301	0	0	0	1	0	67	301				
GNA15	2769	broad.mit.edu	37	19	3151773	3151773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3151773G>T	ENST00000262958.3	+	4	812	c.554G>T	c.(553-555)aGc>aTc	p.S185I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	185					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTGCTCCGCAGCCGCATGCCC	0.642																																						ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(553-555)aGc>aTc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							118.0	101.0	107.0					19																	3151773		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151773G>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.554G>T	19.37:g.3151773G>T	ENSP00000262958:p.Ser185Ile					AC005264.2_ENST00000587587.1_RNA	p.S185I	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	4	812	+		Hepatocellular(1079;0.137)	185					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.554G>T	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060650	0.36373	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.59	3.53	0.40419	G protein alpha subunit, helical insertion (1);	0.130161	0.51477	U	0.000099	T	0.80999	0.4732	N	0.21508	0.67	0.34022	D	0.652732	B	0.11235	0.004	B	0.18263	0.021	T	0.80504	-0.1353	10	0.87932	D	0	.	9.8799	0.41227	0.0:0.0:0.6289:0.3711	.	185	P30679	GNA15_HUMAN	I	185	ENSP00000262958:S185I	ENSP00000262958:S185I	S	+	2	0	GNA15	3102773	0.025000	0.19082	0.962000	0.40283	0.800000	0.45204	1.389000	0.34453	0.895000	0.36342	0.546000	0.68486	AGC		0.642	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		136	569	1	0	1.18489e-69	1	1.50393e-69	136	569				
ZNF318	24149	broad.mit.edu	37	6	43305593	43305593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305593G>A	ENST00000361428.2	-	10	6220	c.6143C>T	c.(6142-6144)tCt>tTt	p.S2048F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2048					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGTGATACAGAATTTTCTTC	0.468																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6142-6144)tCt>tTt		zinc finger protein 318							91.0	82.0	85.0					6																	43305593		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305593G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6143C>T	6.37:g.43305593G>A	ENSP00000354964:p.Ser2048Phe					ZNF318_ENST00000318149.3_Intron	p.S2048F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6220	-			2048					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6143C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959432	0.18507	.	.	ENSG00000171467	ENST00000361428	T	0.12774	2.65	5.2	3.27	0.37495	.	0.501221	0.19661	N	0.108975	T	0.10252	0.0251	L	0.32530	0.975	0.44485	D	0.99742	D	0.57571	0.98	P	0.56700	0.804	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.6027	8.6883	0.34251	0.1987:0.0:0.8013:0.0	.	2048	Q5VUA4	ZN318_HUMAN	F	2048	ENSP00000354964:S2048F	ENSP00000354964:S2048F	S	-	2	0	ZNF318	43413571	1.000000	0.71417	0.884000	0.34674	0.096000	0.18686	1.868000	0.39509	1.432000	0.47375	0.655000	0.94253	TCT		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		58	255	0	0	0	1	0	58	255				
GABRB2	2561	broad.mit.edu	37	5	160721349	160721349	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160721349G>A	ENST00000393959.1	-	10	1277	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000517901.1_Silent_p.D325D|GABRB2_ENST00000274547.2_Silent_p.D426D|GABRB2_ENST00000353437.6_Silent_p.D388D|GABRB2_ENST00000520240.1_Silent_p.D388D			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	426					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTCTGGGGTCTCCAAGTC	0.507																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1276-1278)gaC>gaT		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						113.0	105.0	108.0					5																	160721349		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721349G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1278C>T	5.37:g.160721349G>A						GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000517901.1_Silent_p.D325D|GABRB2_ENST00000520240.1_Silent_p.D388D|GABRB2_ENST00000393959.1_Silent_p.D426D|GABRB2_ENST00000353437.6_Silent_p.D388D	p.D426D	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1495	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	426					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.1278C>T	CCDS4355.1																																																																																				0.507	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			98	368	0	0	0	1	0	98	368				
DOCK1	1793	broad.mit.edu	37	10	129224193	129224193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129224193T>C	ENST00000280333.6	+	47	4878	c.4769T>C	c.(4768-4770)cTg>cCg	p.L1590P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1590	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACGGAGGCACTGAGGCCGTTC	0.488																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4768-4770)cTg>cCg		dedicator of cytokinesis 1							196.0	196.0	196.0					10																	129224193		1958	4152	6110	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129224193T>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4769T>C	10.37:g.129224193T>C	ENSP00000280333:p.Leu1590Pro						p.L1590P	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	47	4878	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1590			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4769T>C		.	.	.	.	.	.	.	.	.	.	t	17.76	3.469373	0.63625	.	.	ENSG00000150760	ENST00000280333	T	0.17213	2.29	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000007	T	0.51568	0.1682	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.64774	-0.6328	10	0.87932	D	0	.	14.8644	0.70404	0.0:0.0:0.0:1.0	.	1590;1656;1590	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	P	1590	ENSP00000280333:L1590P	ENSP00000280333:L1590P	L	+	2	0	DOCK1	129114183	1.000000	0.71417	0.989000	0.46669	0.360000	0.29518	7.817000	0.86213	2.094000	0.63399	0.370000	0.22315	CTG		0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		187	818	0	0	0	1	0	187	818				
FADS1	3992	broad.mit.edu	37	11	61580775	61580775	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61580775C>A	ENST00000350997.7	-	2	658	c.426G>T	c.(424-426)atG>atT	p.M142I	FADS1_ENST00000541683.1_5'Flank|FADS2_ENST00000574708.1_Intron|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000257261.6_5'Flank|FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	85					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGAGAGAGTTCATATACTTCT	0.512																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(424-426)atG>atT		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						135.0	144.0	141.0					11																	61580775		2089	4219	6308	SO:0001583	missense	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61580775C>A		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.426G>T	11.37:g.61580775C>A	ENSP00000322229:p.Met142Ile					FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000574708.1_Intron	p.M142I	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			2	658	-			85					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	ENST00000350997.7	37	c.426G>T	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033804	0.75504	.	.	ENSG00000149485	ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000540767;ENST00000545245;ENST00000545405;ENST00000421879;ENST00000544696;ENST00000466716;ENST00000544309;ENST00000539419;ENST00000448607;ENST00000473263	T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;2.03;2.03;1.57;1.57;1.58;1.55;0.85;0.86;0.85	5.43	5.43	0.79202	Cytochrome b5 (5);	.	.	.	.	T	0.80613	0.4656	L	0.56396	1.775	0.80722	D	1	B	0.15473	0.013	B	0.23275	0.045	T	0.76798	-0.2826	9	0.72032	D	0.01	-10.6168	19.2379	0.93869	0.0:1.0:0.0:0.0	.	85	O60427	FADS1_HUMAN	I	142;1;1;1;1;1;1;1;1;1;1;1;1;1	ENSP00000322229:M142I;ENSP00000405087:M1I;ENSP00000441403:M1I;ENSP00000441871:M1I;ENSP00000442170:M1I;ENSP00000440652:M1I;ENSP00000416043:M1I;ENSP00000443037:M1I;ENSP00000446270:M1I;ENSP00000439790:M1I	ENSP00000322229:M142I	M	-	3	0	FADS1	61337351	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.037000	0.64170	2.716000	0.92895	0.655000	0.94253	ATG		0.512	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		145	643	1	0	1.51433e-70	1	1.92372e-70	145	643				
SLC45A4	57210	broad.mit.edu	37	8	142227289	142227289	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142227289C>T	ENST00000024061.3	-	5	1784		c.e5-1		SLC45A4_ENST00000519067.1_Splice_Site|SLC45A4_ENST00000517878.1_Splice_Site|SLC45A4_ENST00000433583.2_Splice_Site	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGAGGGGGCCTGTTCCGGAA	0.617																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.e5-1		solute carrier family 45, member 4							39.0	41.0	40.0					8																	142227289		2203	4300	6503	SO:0001630	splice_region_variant	57210				transport	integral to membrane		g.chr8:142227289C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1477-1G>A	8.37:g.142227289C>T						SLC45A4_ENST00000024061.3_Splice_Site|SLC45A4_ENST00000517878.1_Splice_Site|SLC45A4_ENST00000433583.2_Splice_Site				Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		5	1780	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)							Q6ZRI2|Q9ULU3	Splice_Site	SNP	ENST00000024061.3	37		CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564260	0.45694	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7099	0.91652	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC45A4	142296471	1.000000	0.71417	0.995000	0.50966	0.208000	0.24298	7.494000	0.81503	2.420000	0.82092	0.491000	0.48974	.		0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325	Intron	62	248	0	0	0	1	0	62	248				
AMMECR1L	83607	broad.mit.edu	37	2	128622692	128622692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128622692C>T	ENST00000272647.5	-	8	1169	c.909G>A	c.(907-909)ccG>ccA	p.P303P	AMMECR1L_ENST00000393001.1_Silent_p.P303P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	303										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGTAGAGGGGCGGGGCATGAA	0.532																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(907-909)ccG>ccA		AMMECR1-like							161.0	148.0	152.0					2																	128622692		2203	4300	6503	SO:0001819	synonymous_variant	83607							g.chr2:128622692C>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.909G>A	2.37:g.128622692C>T						AMMECR1L_ENST00000393001.1_Silent_p.P303P	p.P303P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	8	1169	-	Colorectal(110;0.1)		303					B4E276	Silent	SNP	ENST00000272647.5	37	c.909G>A	CCDS2152.1																																																																																				0.532	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		50	599	0	0	0	1	0	50	599				
OSBPL9	114883	broad.mit.edu	37	1	52231644	52231644	+	Missense_Mutation	SNP	G	G	A	rs367629267		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52231644G>A	ENST00000428468.1	+	12	931	c.929G>A	c.(928-930)cGc>cAc	p.R310H	OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R328H|OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	310					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCCCCAAAGCGCTTAATAGAG	0.348																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(982-984)cGc>cAc		oxysterol binding protein-like 9		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	66.0	64.0	65.0		929,395,395,878,599,890,959	2.0	1.0	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	OSBPL9	NM_024586.5,NM_148904.3,NM_148905.3,NM_148906.2,NM_148907.2,NM_148908.3,NM_148909.3	29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	310/737,132/559,132/559,293/720,200/627,297/724,320/747	52231644	1,13005	2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52231644G>A	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.929G>A	1.37:g.52231644G>A	ENSP00000407168:p.Arg310His					OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H|OSBPL9_ENST00000428468.1_Missense_Mutation_p.R310H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H	p.R328H	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			12	1165	+			310					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.983G>A	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465138	0.43839	0.0	1.16E-4	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.86	1.97	0.26223	.	0.100852	0.64402	N	0.000001	T	0.13457	0.0326	N	0.04880	-0.145	0.37295	D	0.908439	D;B;B;B;B	0.76494	0.999;0.007;0.0;0.01;0.01	P;B;B;B;B	0.62649	0.905;0.003;0.001;0.003;0.003	T	0.17868	-1.0355	10	0.44086	T	0.13	-14.4153	10.3018	0.43656	0.2153:0.0:0.7847:0.0	.	293;200;326;310;315	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	H	297;328;315;320;145;310;293;229;145;200;132;132	ENSP00000360779:R297H;ENSP00000360775:R328H;ENSP00000337265:R315H;ENSP00000412733:R320H;ENSP00000402646:R145H;ENSP00000407168:R310H;ENSP00000413263:R293H;ENSP00000433675:R229H;ENSP00000433083:R145H;ENSP00000354970:R200H;ENSP00000433279:R132H;ENSP00000431980:R132H	ENSP00000337265:R315H	R	+	2	0	OSBPL9	52004232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.545000	0.45769	0.338000	0.23692	0.650000	0.86243	CGC		0.348	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			25	269	0	0	0	1	0	25	269				
PRSS1	5644	broad.mit.edu	37	7	142460861	142460861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460861C>T	ENST00000311737.7	+	5	740	c.734C>T	c.(733-735)gCc>gTc	p.A245V	PRSS1_ENST00000486171.1_Missense_Mutation_p.A259V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	245					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ACCATAGCTGCCAATAGCTAA	0.488																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(775-777)gCc>gTc		protease, serine, 1 (trypsin 1)							78.0	79.0	79.0					7																	142460861		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460861C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.734C>T	7.37:g.142460861C>T	ENSP00000308720:p.Ala245Val					PRSS1_ENST00000311737.7_Missense_Mutation_p.A245V	p.A259V			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		6	793	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	245					A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.776C>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013962	0.19277	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.88818	-2.43;-2.42	3.18	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);	0.152972	0.64402	D	0.000014	D	0.82674	0.5088	L	0.35644	1.08	0.38549	D	0.949409	B;B	0.18968	0.032;0.032	B;B	0.17098	0.017;0.015	T	0.78548	-0.2162	10	0.59425	D	0.04	.	11.2031	0.48754	0.0:0.8106:0.1894:0.0	.	259;245	E7EQ64;P07477	.;TRY1_HUMAN	V	259;245;235	ENSP00000417854:A259V;ENSP00000308720:A245V	ENSP00000308720:A245V	A	+	2	0	PRSS1	142140435	0.510000	0.26171	0.780000	0.31762	0.016000	0.09150	0.322000	0.19576	0.580000	0.29522	0.195000	0.17529	GCC		0.488	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			56	349	0	0	0	1	0	56	349				
RFC1	5981	broad.mit.edu	37	4	39291557	39291557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39291557C>A	ENST00000381897.1	-	24	3407	c.3274G>T	c.(3274-3276)Gat>Tat	p.D1092Y	RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1092					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATTCCGAATCCAGGGATGGG	0.403																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(3274-3276)Gat>Tat		replication factor C (activator 1) 1, 145kDa							235.0	230.0	232.0					4																	39291557		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39291557C>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3274G>T	4.37:g.39291557C>A	ENSP00000371321:p.Asp1092Tyr					RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	p.D1092Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			24	3407	-			1092					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.3274G>T	CCDS56329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.290121|2.290121	0.40494|0.40494	.|.	.|.	ENSG00000035928|ENSG00000035928	ENST00000381897;ENST00000349703|ENST00000514572	T;T|.	0.14144|.	2.53;2.53|.	5.83|5.83	3.8|3.8	0.43715|0.43715	.|.	0.392641|.	0.23591|.	N|.	0.046557|.	T|T	0.58836|0.58836	0.2150|0.2150	L|L	0.47716|0.47716	1.5|1.5	0.42668|0.42668	D|D	0.9935|0.9935	B;D|.	0.58620|.	0.074;0.983|.	B;P|.	0.61940|.	0.031;0.896|.	T|T	0.57087|0.57087	-0.7871|-0.7871	10|5	0.66056|.	D|.	0.02|.	-15.5032|-15.5032	11.9623|11.9623	0.53015|0.53015	0.0:0.7924:0.0:0.2076|0.0:0.7924:0.0:0.2076	.|.	1092;1091|.	P35251;P35251-2|.	RFC1_HUMAN;.|.	Y|V	1092;1091|68	ENSP00000371321:D1092Y;ENSP00000261424:D1091Y|.	ENSP00000261424:D1091Y|.	D|G	-|-	1|2	0|0	RFC1|RFC1	38967952|38967952	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.012000|0.012000	0.07955|0.07955	3.084000|3.084000	0.50143|0.50143	1.480000|1.480000	0.48289|0.48289	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.403	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		155	647	1	0	9.91784e-70	1	1.25895e-69	155	647				
NOL11	25926	broad.mit.edu	37	17	65714073	65714073	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65714073C>A	ENST00000253247.4	+	1	125	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	4					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATGGCAGCGCTGGAGGAAGA	0.592											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(10-12)Ctg>Atg		nucleolar protein 11							48.0	44.0	45.0					17																	65714073		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65714073C>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.10C>A	17.37:g.65714073C>A	ENSP00000253247:p.Leu4Met		OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	p.L4M	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	125	+	all_cancers(12;1.54e-10)		4					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.10C>A	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080987	0.20309	.	.	ENSG00000130935	ENST00000253247	T	0.59638	0.25	4.91	0.587	0.17439	.	0.000000	0.64402	D	0.000001	T	0.67915	0.2944	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65973	-0.6038	10	0.72032	D	0.01	-9.876	8.0543	0.30596	0.0:0.582:0.0:0.418	.	4	Q9H8H0	NOL11_HUMAN	M	4	ENSP00000253247:L4M	ENSP00000253247:L4M	L	+	1	2	NOL11	63144535	0.885000	0.30320	0.995000	0.50966	0.477000	0.33069	0.410000	0.21098	0.079000	0.16929	-0.254000	0.11334	CTG		0.592	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		11	195	1	0	0.000673444	1	0.000681208	11	195				
KLHL34	257240	broad.mit.edu	37	X	21674239	21674239	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21674239C>T	ENST00000379499.2	-	1	2209	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	556						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTAGGGCAGCGGCCGCAACC	0.677																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1666-1668)ccG>ccA		kelch-like family member 34							13.0	12.0	12.0					X																	21674239		2174	4241	6415	SO:0001819	synonymous_variant	257240							g.chrX:21674239C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1668G>A	X.37:g.21674239C>T							p.P556P	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	2209	-			556						Silent	SNP	ENST00000379499.2	37	c.1668G>A	CCDS14199.1																																																																																				0.677	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		10	45	0	0	0	1	0	10	45				
C11orf87	399947	broad.mit.edu	37	11	109294503	109294503	+	Silent	SNP	G	G	T	rs558968039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:109294503G>T	ENST00000327419.6	+	2	547	c.144G>T	c.(142-144)acG>acT	p.T48T	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	48						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGCATCACGCAGGTGGGAC	0.637																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(142-144)acG>acT		chromosome 11 open reading frame 87							128.0	101.0	110.0					11																	109294503		2201	4298	6499	SO:0001819	synonymous_variant	399947					integral to membrane		g.chr11:109294503G>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.144G>T	11.37:g.109294503G>T						RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	p.T48T	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	547	+			48					B4E169	Silent	SNP	ENST00000327419.6	37	c.144G>T	CCDS31672.1																																																																																				0.637	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		23	224	1	0	3.5997e-14	1	3.90403e-14	23	224				
CXCR2	3579	broad.mit.edu	37	2	219000157	219000157	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219000157A>G	ENST00000318507.2	+	3	1060	c.633A>G	c.(631-633)ttA>ttG	p.L211L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	211					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGATGCTGTTACGGATCCTGC	0.537																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(631-633)ttA>ttG		chemokine (C-X-C motif) receptor 2							132.0	121.0	125.0					2																	219000157		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000157A>G	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.633A>G	2.37:g.219000157A>G							p.L211L	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1060	+			211					Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.633A>G	CCDS2408.1																																																																																				0.537	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		54	719	0	0	0	1	0	54	719				
FLG	2312	broad.mit.edu	37	1	152285813	152285813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152285813G>A	ENST00000368799.1	-	3	1584	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	517	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGTGTCCACGAATGGTGTCC	0.602									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1549-1551)Cgt>Tgt		filaggrin							349.0	346.0	347.0					1																	152285813		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285813G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1549C>T	1.37:g.152285813G>A	ENSP00000357789:p.Arg517Cys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R517C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		517			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1549C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.810	1.182872	0.21870	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01745	4.66	2.91	-0.649	0.11461	.	.	.	.	.	T	0.02494	0.0076	M	0.77616	2.38	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.39981	-0.9587	9	0.56958	D	0.05	.	1.2341	0.01949	0.1416:0.2215:0.4109:0.2261	.	517	P20930	FILA_HUMAN	C	517;49	ENSP00000357789:R517C	ENSP00000357789:R517C	R	-	1	0	FLG	150552437	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.100000	0.17581	0.603000	0.83216	CGT		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		686	2063	0	0	0	1	0	686	2063				
SLIT3	6586	broad.mit.edu	37	5	168112785	168112785	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168112785G>A	ENST00000519560.1	-	31	3881	c.3462C>T	c.(3460-3462)tgC>tgT	p.C1154C	SLIT3_ENST00000332966.8_Silent_p.C1161C|SLIT3_ENST00000404867.3_Silent_p.C1154C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1154	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCTTCTCGCATCTGGGGC	0.647																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3460-3462)tgC>tgT		slit homolog 3 (Drosophila)							57.0	58.0	58.0					5																	168112785		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112785G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3462C>T	5.37:g.168112785G>A						SLIT3_ENST00000404867.3_Silent_p.C1154C|SLIT3_ENST00000332966.8_Silent_p.C1161C	p.C1154C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		31	3881	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1154			EGF-like 6.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3462C>T	CCDS4369.1																																																																																				0.647	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		52	244	0	0	0	1	0	52	244				
TRAF7	84231	broad.mit.edu	37	16	2223366	2223366	+	Silent	SNP	C	C	T	rs113743245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223366C>T	ENST00000326181.6	+	10	1110	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	326					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CGGAGAAGATCGACCAGCTAG	0.637																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(976-978)atC>atT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							61.0	59.0	59.0					16																	2223366		2198	4300	6498	SO:0001819	synonymous_variant	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2223366C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.978C>T	16.37:g.2223366C>T							p.I326I	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			10	1110	+			326					Q9H073	Silent	SNP	ENST00000326181.6	37	c.978C>T	CCDS10461.1																																																																																				0.637	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		37	223	0	0	0	1	0	37	223				
APBB2	323	broad.mit.edu	37	4	40832536	40832536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40832536G>A	ENST00000295974.8	-	13	2214	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	529	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGTCACATCGAAATACATGA	0.433																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1585-1587)Cga>Tga		amyloid beta (A4) precursor protein-binding, family B, member 2							130.0	126.0	128.0					4																	40832536		1949	4142	6091	SO:0001587	stop_gained	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40832536G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1585C>T	4.37:g.40832536G>A	ENSP00000295974:p.Arg529*					APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*	p.R529*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			13	2214	-			529			PID 1.		B4DSL4|E9PG87|Q8IUI6	Nonsense_Mutation	SNP	ENST00000295974.8	37	c.1585C>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.202208|12.202208	0.99646|0.99646	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000512510|ENST00000513611	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.124247|.	0.56097|.	D|.	0.000027|.	.|T	.|0.75102	.|0.3804	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73493	.|-0.3965	.|4	0.02654|.	T|.	1|.	-7.3436|-7.3436	19.2746|19.2746	0.94026|0.94026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	529;528;508;530;508;43|498	.|.	ENSP00000295974:R529X|.	R|S	-|-	1|2	2|0	APBB2|APBB2	40527293|40527293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.565000|2.565000	0.86533|0.86533	0.491000|0.491000	0.48974|0.48974	CGA|TCG		0.433	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		57	330	0	0	0	1	0	57	330				
C1QL3	389941	broad.mit.edu	37	10	16562739	16562739	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16562739C>T	ENST00000298943.3	-	1	1265	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	109	Collagen-like.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CGCGTTCAggccgggcgcccc	0.781																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(325-327)gGc>gAc		complement component 1, q subcomponent-like 3							19.0	19.0	19.0					10																	16562739		2198	4293	6491	SO:0001583	missense	389941					collagen		g.chr10:16562739C>T		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.326G>A	10.37:g.16562739C>T	ENSP00000298943:p.Gly109Asp						p.G109D	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	1265	-			109			Collagen-like.		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.326G>A	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830663	0.71258	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.99353	-5.77	3.52	2.59	0.31030	.	0.211440	0.37906	N	0.001892	D	0.99354	0.9773	M	0.90595	3.13	0.51233	D	0.999918	D	0.76494	0.999	D	0.67103	0.949	D	0.99136	1.0854	10	0.59425	D	0.04	.	12.1876	0.54247	0.1719:0.8281:0.0:0.0	.	109	Q5VWW1	C1QL3_HUMAN	D	109;86	ENSP00000298943:G109D	ENSP00000298943:G109D	G	-	2	0	C1QL3	16602745	0.998000	0.40836	0.999000	0.59377	0.905000	0.53344	2.378000	0.44309	0.803000	0.34113	0.557000	0.71058	GGC		0.781	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		13	155	0	0	0	1	0	13	155				
GMEB1	10691	broad.mit.edu	37	1	29030754	29030754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29030754G>A	ENST00000294409.2	+	8	901	c.811G>A	c.(811-813)Gag>Aag	p.E271K	GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K|GMEB1_ENST00000373816.1_Missense_Mutation_p.E261K|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	271					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGATGGAAGAGGTTGTCTG	0.468																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.(781-783)Gag>Aag		glucocorticoid modulatory element binding protein 1							141.0	140.0	140.0					1																	29030754		2203	4300	6503	SO:0001583	missense	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29030754G>A	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.811G>A	1.37:g.29030754G>A	ENSP00000294409:p.Glu271Lys					GMEB1_ENST00000294409.2_Missense_Mutation_p.E271K|GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K|GMEB1_ENST00000480454.1_3'UTR	p.E261K	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	8	919	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	271					B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	c.781G>A	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466274	0.84425	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.62498	0.03;0.03;0.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.43152	1.355	0.38376	D	0.944996	D;D	0.61697	0.99;0.99	P;P	0.54629	0.757;0.757	T	0.72427	-0.4297	10	0.62326	D	0.03	-11.8053	19.0481	0.93030	0.0:0.0:1.0:0.0	.	271;261	Q9Y692;B1AT47	GMEB1_HUMAN;.	K	261;237;261;271	ENSP00000362922:E261K;ENSP00000355186:E261K;ENSP00000294409:E271K	ENSP00000294409:E271K	E	+	1	0	GMEB1	28903341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.358000	0.79466	2.808000	0.96608	0.650000	0.86243	GAG		0.468	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		83	338	0	0	0	1	0	83	338				
CA9	768	broad.mit.edu	37	9	35675756	35675756	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35675756A>G	ENST00000378357.4	+	3	537		c.e3-1			NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTCCCACCCCAGGCGACCCGC	0.706																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.e3-1		carbonic anhydrase IX							12.0	15.0	14.0					9																	35675756		2014	4203	6217	SO:0001630	splice_region_variant	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35675756A>G	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.434-1A>G	9.37:g.35675756A>G								NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	537	+	all_epithelial(49;0.217)							Q5T4R1	Splice_Site	SNP	ENST00000378357.4	37		CCDS6585.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913709	0.52439	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9181	0.47148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CA9	35665756	0.999000	0.42202	0.665000	0.29768	0.679000	0.39708	3.086000	0.50159	2.071000	0.62044	0.379000	0.24179	.		0.706	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	Intron	11	217	0	0	0	1	0	11	217				
PDXK	8566	broad.mit.edu	37	21	45175635	45175635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45175635G>A	ENST00000291565.4	+	10	999	c.816G>A	c.(814-816)caG>caA	p.Q272Q	PDXK_ENST00000467908.1_Silent_p.Q232Q|PDXK_ENST00000468090.1_Silent_p.Q244Q	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	272					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGACCATCCAGTGTGCAAAAG	0.622																																						ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(814-816)caG>caA		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						122.0	92.0	103.0					21																	45175635		2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45175635G>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.816G>A	21.37:g.45175635G>A						PDXK_ENST00000468090.1_Silent_p.Q244Q|PDXK_ENST00000467908.1_Silent_p.Q232Q	p.Q272Q	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	10	999	+			272					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.816G>A	CCDS13699.1																																																																																				0.622	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		47	395	0	0	0	1	0	47	395				
ZNF341	84905	broad.mit.edu	37	20	32333101	32333101	+	Missense_Mutation	SNP	G	G	A	rs376738185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32333101G>A	ENST00000375200.1	+	3	700	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ZNF341_ENST00000342427.2_Missense_Mutation_p.R112H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCTGCCAATCGCCAGGTATTT	0.547																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(334-336)cGc>cAc		zinc finger protein 341							30.0	32.0	32.0					20																	32333101		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32333101G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.335G>A	20.37:g.32333101G>A	ENSP00000364346:p.Arg112His					ZNF341_ENST00000342427.2_Missense_Mutation_p.R112H	p.R112H			Q9BYN7	ZN341_HUMAN			3	700	+			112					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.335G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.363913	0.82353	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.11169	3.08;2.8	5.58	5.58	0.84498	.	0.218649	0.42053	D	0.000766	T	0.18299	0.0439	N	0.17082	0.46	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.19095	-1.0316	10	0.17369	T	0.5	-29.7316	17.3441	0.87305	0.0:0.0:1.0:0.0	.	112;112	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	H	112	ENSP00000344308:R112H;ENSP00000364346:R112H	ENSP00000344308:R112H	R	+	2	0	ZNF341	31796762	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.325000	0.90007	2.638000	0.89438	0.563000	0.77884	CGC		0.547	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				41	171	0	0	0	1	0	41	171				
SNHG14	104472715	broad.mit.edu	37	15	25339251	25339251	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25339251C>T	ENST00000546682.1	+	0	1110				SNHG14_ENST00000549804.2_RNA|SNORD116-24_ENST00000384549.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AACTCTATACCGTCATCTTCG	0.423																																						ENST00000546682.1																			0																				222.0	195.0	203.0					15																	25339251		876	1991	2867			0							g.chr15:25339251C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25339251C>T						SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	1110	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.423	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			137	596	0	0	0	1	0	137	596				
NUP98	4928	broad.mit.edu	37	11	3697446	3697446	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3697446G>A	ENST00000324932.7	-	33	5766	c.5346C>T	c.(5344-5346)gaC>gaT	p.D1782D	NUP98_ENST00000355260.3_Silent_p.D1708D|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1799					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGCGCAGTTCGTCCATGGCAT	0.582			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5344-5346)gaC>gaT		nucleoporin 98kDa							86.0	81.0	83.0					11																	3697446		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697446G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5346C>T	11.37:g.3697446G>A						NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.D1708D	p.D1782D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5766	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1799					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.5346C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	3.807	-0.040427	0.07497	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.66	-5.9	0.02275	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.5892	0.7825	0.01043	0.1843:0.3352:0.1852:0.2953	.	.	.	.	X	735	.	.	R	-	1	2	NUP98	3654022	0.998000	0.40836	0.816000	0.32577	0.647000	0.38526	0.587000	0.23909	-1.198000	0.02669	-2.363000	0.00238	CGA		0.582	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		10	397	0	0	0	1	0	10	397				
SPINK5	11005	broad.mit.edu	37	5	147488388	147488388	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147488388A>G	ENST00000256084.7	+	18	1722	c.1680A>G	c.(1678-1680)agA>agG	p.R560R	SPINK5_ENST00000398454.1_Silent_p.R560R|SPINK5_ENST00000359874.3_Silent_p.R560R	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	560					anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aagttaagagagaagcagTTC	0.398																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1678-1680)agA>agG		serine peptidase inhibitor, Kazal type 5							161.0	168.0	166.0					5																	147488388		1857	4088	5945	SO:0001819	synonymous_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147488388A>G	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1680A>G	5.37:g.147488388A>G						SPINK5_ENST00000256084.7_Silent_p.R560R|SPINK5_ENST00000398454.1_Silent_p.R560R	p.R560R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		18	1753	+			560					A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	c.1680A>G	CCDS43382.1																																																																																				0.398	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		11	620	0	0	0	1	0	11	620				
TTN	7273	broad.mit.edu	37	2	179418886	179418886	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418886G>T	ENST00000591111.1	-	283	84253	c.84029C>A	c.(84028-84030)aCt>aAt	p.T28010N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T29651N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28010	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CCATACAACAGTCATCGAATT	0.418																																						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.(88951-88953)aCt>aAt		titin							177.0	171.0	173.0					2																	179418886		1924	4145	6069	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418886G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84029C>A	2.37:g.179418886G>T	ENSP00000465570:p.Thr28010Asn					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T28010N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.T29651N	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)		333	89176	-			28010			Ig-like 135.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.88952C>A		.	.	.	.	.	.	.	.	.	.	G	21.1	4.105073	0.77096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78483	0.4290	M	0.78285	2.405	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.79907	-0.1605	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20586;20711;20778;28010	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27083;20586;20778;20711;20583	ENSP00000343764:T27083N;ENSP00000434586:T20586N;ENSP00000340554:T20778N;ENSP00000352154:T20711N	ENSP00000340554:T20778N	T	-	2	0	TTN	179127132	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	4.842000	0.62831	2.793000	0.96121	0.655000	0.94253	ACT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	681	1	0	4.96729e-08	1	5.17613e-08	19	681				
DNAJB11	51726	broad.mit.edu	37	3	186302256	186302256	+	Missense_Mutation	SNP	C	C	T	rs139219315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186302256C>T	ENST00000439351.1	+	10	1819	c.890C>T	c.(889-891)gCg>gTg	p.A297V	DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	297					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGCCAGGAGCGAAGCTATGG	0.448																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(889-891)gCg>gTg		DnaJ (Hsp40) homolog, subfamily B, member 11		C	VAL/ALA	0,4406		0,0,2203	93.0	88.0	90.0		890	6.1	1.0	3	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAJB11	NM_016306.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	297/359	186302256	1,13005	2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302256C>T	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.890C>T	3.37:g.186302256C>T	ENSP00000414398:p.Ala297Val					DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V	p.A297V			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	10	1819	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		297					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.890C>T	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868128	0.91587	0.0	1.16E-4	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.046875	0.85682	D	0.000000	T	0.55353	0.1915	M	0.85630	2.765	0.80722	D	1	P	0.44946	0.846	B	0.43658	0.426	T	0.60281	-0.7294	10	0.48119	T	0.1	-13.9583	18.1573	0.89696	0.0:1.0:0.0:0.0	.	297	Q9UBS4	DJB11_HUMAN	V	297	ENSP00000414398:A297V;ENSP00000265028:A297V	ENSP00000265028:A297V	A	+	2	0	DNAJB11	187784950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.578000	0.82498	2.894000	0.99253	0.655000	0.94253	GCG		0.448	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			16	252	0	0	0	1	0	16	252				
FAM154B	283726	broad.mit.edu	37	15	82555261	82555261	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82555261T>G	ENST00000339465.5	+	1	110	c.41T>G	c.(40-42)aTt>aGt	p.I14S	FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565432.1_De_novo_Start_OutOfFrame|FAM154B_ENST00000427381.2_De_novo_Start_OutOfFrame|EFTUD1_ENST00000268206.7_5'Flank|EFTUD1_ENST00000359445.3_5'Flank	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	14										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CTGTGTCAGATTTGTAGCTGC	0.642																																						ENST00000427381.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19								family with sequence similarity 154, member B							112.0	103.0	106.0					15																	82555261		2201	4300	6501	SO:0001583	missense	283726							g.chr15:82555261T>G	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.41T>G	15.37:g.82555261T>G	ENSP00000340445:p.Ile14Ser					FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565432.1_De_novo_Start_OutOfFrame|FAM154B_ENST00000339465.5_Missense_Mutation_p.I14S				Q658L1	F154B_HUMAN			0	70	+								B4E2M2	Translation_Start_Site	SNP	ENST00000339465.5	37		CCDS32310.1	.	.	.	.	.	.	.	.	.	.	T	9.312	1.055836	0.19907	.	.	ENSG00000188659	ENST00000339465	T	0.17528	2.27	3.22	3.22	0.36961	.	0.162599	0.37095	U	0.002253	T	0.20170	0.0485	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.14337	-1.0476	10	0.59425	D	0.04	-10.1081	11.6085	0.51045	0.0:0.0:0.0:1.0	.	14	Q658L1	F154B_HUMAN	S	14	ENSP00000340445:I14S	ENSP00000340445:I14S	I	+	2	0	FAM154B	80342316	1.000000	0.71417	0.990000	0.47175	0.342000	0.28953	4.568000	0.60857	1.480000	0.48289	0.172000	0.16884	ATT		0.642	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		10	62	0	0	0	1	0	10	62				
NDUFV1	4723	broad.mit.edu	37	11	67376922	67376922	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67376922G>T	ENST00000322776.6	+	4	479		c.e4-1		NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|C11orf72_ENST00000333139.3_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000526169.1_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGCCCCTGCAGGCCCAAGTAT	0.622																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.e4-1		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						43.0	53.0	49.0					11																	67376922		2198	4294	6492	SO:0001630	splice_region_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67376922G>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.327-1G>T	11.37:g.67376922G>T						NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site		NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			4	479	+								O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Splice_Site	SNP	ENST00000322776.6	37		CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008643	0.54361	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.095	0.65016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFV1	67133498	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.494000	0.97962	2.174000	0.68829	0.555000	0.69702	.		0.622	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103	Intron	91	457	1	0	2.84844e-50	1	3.52894e-50	91	457				
ALDH4A1	8659	broad.mit.edu	37	1	19209781	19209781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209781C>T	ENST00000375341.3	-	6	852	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	199					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCCAGACCCCGGTACACC	0.657																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(595-597)Ggt>Agt		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						42.0	40.0	41.0					1																	19209781		2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19209781C>T	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.595G>A	1.37:g.19209781C>T	ENSP00000364490:p.Gly199Ser					ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S	p.G199S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	852	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	199					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.595G>A	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331689	0.81690	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.51537	-0.8693	10	0.25106	T	0.35	-37.3033	17.7436	0.88413	0.0:1.0:0.0:0.0	.	199	P30038	AL4A1_HUMAN	S	199;199;199;139;183;97;139;183	ENSP00000290597:G199S;ENSP00000364490:G199S;ENSP00000446071:G199S;ENSP00000442988:G139S;ENSP00000393209:G183S	ENSP00000290597:G199S	G	-	1	0	ALDH4A1	19082368	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	7.184000	0.77705	2.537000	0.85549	0.561000	0.74099	GGT		0.657	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			58	213	0	0	0	1	0	58	213				
SPON1	10418	broad.mit.edu	37	11	14284446	14284446	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14284446C>T	ENST00000534587.1	-	0	185				SPON1_ENST00000310358.7_RNA																							CATCCAAAAGCTACGCTGGAG	0.577																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							50.0	51.0	51.0					11																	14284446		1921	4119	6040			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284446C>T																													11.37:g.14284446C>T						RP11-21L19.1_ENST00000534587.1_RNA				Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2720	+									RNA	SNP	ENST00000534587.1	37																																																																																						0.577	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			6	150	0	0	0	1	0	6	150				
TECTA	7007	broad.mit.edu	37	11	121028656	121028656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121028656C>T	ENST00000392793.1	+	14	4683	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V	TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V			O75443	TECTA_HUMAN	tectorin alpha	1471					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGAGTGTGCGCTGCGCAAC	0.667																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4411-4413)gCg>gTg		tectorin alpha							42.0	40.0	41.0					11																	121028656		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028656C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4412C>T	11.37:g.121028656C>T	ENSP00000376543:p.Ala1471Val					TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V	p.A1471V			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4683	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1471						Missense_Mutation	SNP	ENST00000392793.1	37	c.4412C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949295	0.53186	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04862	3.54;3.54	5.55	4.58	0.56647	VWC out (1);	0.132425	0.50627	D	0.000116	T	0.03871	0.0109	N	0.11255	0.115	0.35126	D	0.767478	B	0.29862	0.259	B	0.19946	0.027	T	0.49214	-0.8963	10	0.23302	T	0.38	.	15.7864	0.78306	0.0:0.7558:0.2441:0.0	.	1471	O75443	TECTA_HUMAN	V	1471	ENSP00000376543:A1471V;ENSP00000264037:A1471V	ENSP00000264037:A1471V	A	+	2	0	TECTA	120533866	0.813000	0.29090	0.999000	0.59377	0.959000	0.62525	1.558000	0.36309	2.600000	0.87896	0.462000	0.41574	GCG		0.667	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		64	335	0	0	0	1	0	64	335				
CNTNAP2	26047	broad.mit.edu	37	7	147092868	147092868	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147092868G>C	ENST00000361727.3	+	10	2182	c.1666G>C	c.(1666-1668)Gac>Cac	p.D556H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	556	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGATCATAGACAGGTAAAT	0.413										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1666-1668)Gac>Cac		contactin associated protein-like 2							130.0	115.0	120.0					7																	147092868		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092868G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1666G>C	7.37:g.147092868G>C	ENSP00000354778:p.Asp556His	HNSCC(39;0.1)					p.D556H	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2182	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	556			EGF-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1666G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406066	0.83230	.	.	ENSG00000174469	ENST00000361727	T	0.76578	-1.03	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	556	Q9UHC6	CNTP2_HUMAN	H	556	ENSP00000354778:D556H	ENSP00000354778:D556H	D	+	1	0	CNTNAP2	146723801	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			76	428	0	0	0	1	0	76	428				
HTATSF1	27336	broad.mit.edu	37	X	135581775	135581775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581775G>A	ENST00000218364.4	+	2	379	c.205G>A	c.(205-207)Gct>Act	p.A69T	HTATSF1_ENST00000535601.1_Missense_Mutation_p.A69T	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	69					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGATTTCATTGCTACATATCA	0.393																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(205-207)Gct>Act		HIV-1 Tat specific factor 1							123.0	120.0	121.0					X																	135581775		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135581775G>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.205G>A	X.37:g.135581775G>A	ENSP00000218364:p.Ala69Thr					HTATSF1_ENST00000218364.4_Missense_Mutation_p.A69T	p.A69T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			3	627	+	Acute lymphoblastic leukemia(192;0.000127)		69					D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.205G>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296110	0.95574	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.27557	1.66;1.66	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66400	-0.5933	10	0.66056	D	0.02	-18.9917	18.6736	0.91521	0.0:0.0:1.0:0.0	.	69	O43719	HTSF1_HUMAN	T	69	ENSP00000442699:A69T;ENSP00000218364:A69T	ENSP00000218364:A69T	A	+	1	0	HTATSF1	135409441	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.550000	0.90675	2.353000	0.79882	0.594000	0.82650	GCT		0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		123	498	0	0	0	1	0	123	498				
CACNA1C	775	broad.mit.edu	37	12	2721099	2721099	+	Missense_Mutation	SNP	G	G	A	rs373930708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2721099G>A	ENST00000347598.4	+	30	3808	c.3808G>A	c.(3808-3810)Gcc>Acc	p.A1270T	CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1270					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTCAAAATCGCCATGAACAT	0.567																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3748-3750)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4371	2.1+/-5.4	0,1,2185	103.0	100.0	101.0		3748,3808,3748,3748,3748,3808,3748,3748,3748,3748,3748,3748,3748,3748,3748,3748,3748,3739,3748,3748,3748,3748,3808	4.3	1.0	12		101	0,8592		0,0,4296	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,1,6481	AA,AG,GG		0.0,0.0229,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1250/2139,1270/2187,1250/2180,1250/2174,1250/2167,1270/2159,1250/2158,1250/2158,1250/2158,1250/2156,1250/2147,1250/2147,1250/2145,1250/2139,1250/2139,1250/2139,1250/2139,1247/2136,1250/2128,1250/2139,1250/2174,1250/2199,1270/2222	2721099	1,12963	2186	4296	6482	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2721099G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3808G>A	12.37:g.2721099G>A	ENSP00000266376:p.Ala1270Thr					CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T	p.A1250T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	29	4013	+			1270					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3748G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753981	0.89843	2.29E-4	0.0	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.2	4.29	0.51040	.	0.171847	0.51477	D	0.000090	D	0.96781	0.8949	L	0.28556	0.865	0.80722	D	1	D;D;P;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.922;1.0;0.999;1.0;1.0;0.996;0.88;0.999;1.0;0.607;0.999;1.0;0.999;1.0;0.901;1.0;0.585;1.0;1.0;1.0;1.0;0.998;1.0	D;D;B;D;D;D;D;D;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;P;D	0.87578	0.996;0.994;0.186;0.996;0.994;0.994;0.998;0.96;0.212;0.994;0.998;0.095;0.995;0.99;0.992;0.992;0.37;0.998;0.065;0.998;0.998;0.998;0.998;0.884;0.991	D	0.96515	0.9381	10	0.56958	D	0.05	.	13.4928	0.61407	0.0757:0.0:0.9243:0.0	.	1250;1247;1270;1250;1250;1250;1250;1250;1250;1270;1250;1221;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	1275;1250;1250;1250;1250;1250;1250;1250;1250;1250;1270;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1091	ENSP00000336982:A1275T;ENSP00000382563:A1250T;ENSP00000437936:A1250T;ENSP00000382552:A1250T;ENSP00000382547:A1250T;ENSP00000382506:A1250T;ENSP00000382530:A1250T;ENSP00000382546:A1250T;ENSP00000382500:A1250T;ENSP00000382549:A1250T;ENSP00000266376:A1270T;ENSP00000382515:A1270T;ENSP00000382510:A1250T;ENSP00000341092:A1250T;ENSP00000382537:A1250T;ENSP00000329877:A1250T;ENSP00000382557:A1250T;ENSP00000385724:A1250T;ENSP00000382512:A1250T;ENSP00000382542:A1250T;ENSP00000382526:A1250T;ENSP00000385896:A1250T;ENSP00000382504:A1250T	ENSP00000323129:A1091T	A	+	1	0	CACNA1C	2591360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.723000	0.68492	2.570000	0.86706	0.655000	0.94253	GCC		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		22	185	0	0	0	1	0	22	185				
SYNE1	23345	broad.mit.edu	37	6	152757165	152757165	+	Silent	SNP	C	C	T	rs200370595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152757165C>T	ENST00000367255.5	-	33	4822	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P	SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000367248.3_Silent_p.P1397P|SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000423061.1_Silent_p.P1414P|SYNE1_ENST00000448038.1_Silent_p.P1414P|SYNE1_ENST00000265368.4_Silent_p.P1407P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1407					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGGCCCAAGCGGTATCTCTG	0.403										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		17213	0.0		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4219-4221)ccG>ccA		spectrin repeat containing, nuclear envelope 1							147.0	132.0	137.0					6																	152757165		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152757165C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4221G>A	6.37:g.152757165C>T		HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000448038.1_Silent_p.P1414P|SYNE1_ENST00000265368.4_Silent_p.P1407P|SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000423061.1_Silent_p.P1414P|SYNE1_ENST00000367248.3_Silent_p.P1397P	p.P1407P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4822	-		Ovarian(120;0.0955)	1407					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.4221G>A	CCDS5236.2																																																																																				0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	408	0	0	0	1	0	15	408				
CHST8	64377	broad.mit.edu	37	19	34263870	34263870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263870G>A	ENST00000262622.4	+	4	1935	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	CHST8_ENST00000434302.1_Missense_Mutation_p.A393T|CHST8_ENST00000438847.3_Missense_Mutation_p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	393					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGTACTTCGCCCAACTCTC	0.602																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(1177-1179)Gcc>Acc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							50.0	53.0	52.0					19																	34263870		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263870G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1177G>A	19.37:g.34263870G>A	ENSP00000262622:p.Ala393Thr					CHST8_ENST00000434302.1_Missense_Mutation_p.A393T|CHST8_ENST00000438847.2_Missense_Mutation_p.A393T	p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1935	+	Esophageal squamous(110;0.162)		393					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.1177G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940439	0.18281	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74315	-0.83;-0.83;-0.83	5.01	1.49	0.22878	.	0.304937	0.30820	N	0.008803	T	0.60843	0.2300	L	0.43757	1.38	0.44985	D	0.998006	B	0.10296	0.003	B	0.13407	0.009	T	0.45906	-0.9229	10	0.23302	T	0.38	-16.628	7.4665	0.27324	0.0819:0.0:0.6276:0.2906	.	393	Q9H2A9	CHST8_HUMAN	T	393	ENSP00000392604:A393T;ENSP00000393879:A393T;ENSP00000262622:A393T	ENSP00000262622:A393T	A	+	1	0	CHST8	38955710	0.964000	0.33143	0.410000	0.26471	0.260000	0.26232	0.929000	0.28844	0.103000	0.17682	0.297000	0.19635	GCC		0.602	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		53	203	0	0	0	1	0	53	203				
ALPPL2	251	broad.mit.edu	37	2	233274394	233274394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274394G>A	ENST00000295453.3	+	11	1463	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	471					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GGTTCACGGCGTGCAGGAGCA	0.721																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1411-1413)Gtg>Atg		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						16.0	19.0	18.0					2																	233274394		2190	4277	6467	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274394G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1411G>A	2.37:g.233274394G>A	ENSP00000295453:p.Val471Met						p.V471M	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1463	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	471					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1411G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937348	0.52972	.	.	ENSG00000163286	ENST00000295453	D	0.96334	-3.98	2.54	2.54	0.30619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	M	0.88241	2.94	0.54753	D	0.999984	D	0.89917	1.0	D	0.77004	0.989	D	0.98374	1.0555	10	0.87932	D	0	.	12.4169	0.55498	0.0:0.0:1.0:0.0	.	471	P10696	PPBN_HUMAN	M	471	ENSP00000295453:V471M	ENSP00000295453:V471M	V	+	1	0	ALPPL2	232982638	1.000000	0.71417	0.996000	0.52242	0.269000	0.26545	6.982000	0.76173	1.410000	0.46936	0.205000	0.17691	GTG		0.721	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		33	123	0	0	0	1	0	33	123				
TBCK	93627	broad.mit.edu	37	4	107170109	107170109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107170109G>T	ENST00000273980.5	-	9	1136	c.689C>A	c.(688-690)gCt>gAt	p.A230D	TBCK_ENST00000432496.2_Missense_Mutation_p.A230D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D|TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000394706.3_Missense_Mutation_p.A191D					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGCTCTTCAGCCAGAACTAT	0.313																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(688-690)gCt>gAt		TBC1 domain containing kinase							81.0	80.0	81.0					4																	107170109		2202	4299	6501	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107170109G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.689C>A	4.37:g.107170109G>T	ENSP00000273980:p.Ala230Asp					TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000394706.3_Missense_Mutation_p.A191D|TBCK_ENST00000432496.2_Missense_Mutation_p.A230D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D	p.A230D			Q8TEA7	TBCK_HUMAN			9	1136	-			230			Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.689C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714128	0.89112	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094859	0.64402	D	0.000001	T	0.19685	0.0473	L	0.46741	1.465	0.80722	D	1	P;P;P	0.50272	0.933;0.828;0.917	P;B;P	0.58266	0.836;0.394;0.747	T	0.00053	-1.2186	10	0.72032	D	0.01	.	14.8371	0.70192	0.0:0.1436:0.8564:0.0	.	230;191;167	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	D	230;230;167;191;230	ENSP00000273980:A230D;ENSP00000405847:A230D;ENSP00000355338:A167D;ENSP00000378196:A191D;ENSP00000378198:A230D	ENSP00000273980:A230D	A	-	2	0	TBCK	107389558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.180000	0.77674	2.547000	0.85894	0.650000	0.86243	GCT		0.313	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		33	125	1	0	2.85442e-18	1	3.16582e-18	33	125				
MAGED2	10916	broad.mit.edu	37	X	54837363	54837363	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54837363G>T	ENST00000375068.1	+	4	880	c.647G>T	c.(646-648)aGg>aTg	p.R216M	MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000347546.4_Missense_Mutation_p.R198M|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000497484.1_3'UTR			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	216	Arg-rich.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATGGCCCGCAGGGCTTCAAGG	0.602																																						ENST00000375068.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(646-648)aGg>aTg		melanoma antigen family D, 2							28.0	27.0	27.0					X																	54837363		2203	4300	6503	SO:0001583	missense	10916							g.chrX:54837363G>T	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.647G>T	X.37:g.54837363G>T	ENSP00000364209:p.Arg216Met					MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000347546.3_Missense_Mutation_p.R160M|MAGED2_ENST00000343474.6_Missense_Mutation_p.R198M|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M	p.R216M			Q9UNF1	MAGD2_HUMAN			4	880	+			216			Arg-rich.		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.647G>T	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100578	0.56183	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000218439;ENST00000375058;ENST00000396224	T;T;T;T;T;T;T	0.73152	3.76;3.76;3.69;-0.72;3.76;3.76;3.76	3.85	3.85	0.44370	.	0.000000	0.48286	D	0.000184	T	0.64735	0.2625	N	0.08118	0	0.27613	N	0.948598	D;D	0.64830	0.994;0.99	D;D	0.77004	0.989;0.974	T	0.55761	-0.8090	10	0.30854	T	0.27	.	8.6097	0.33795	0.0:0.2301:0.7699:0.0	.	198;216	Q9UNF1-2;Q9UNF1	.;MAGD2_HUMAN	M	216;216;160;198;216;216;216	ENSP00000364209:R216M;ENSP00000364193:R216M;ENSP00000336962:R160M;ENSP00000340290:R198M;ENSP00000218439:R216M;ENSP00000364198:R216M;ENSP00000379526:R216M	ENSP00000218439:R216M	R	+	2	0	MAGED2	54854088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.242000	0.58714	2.175000	0.68902	0.600000	0.82982	AGG		0.602	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		15	81	1	0	3.27435e-08	1	3.41456e-08	15	81				
INTS5	80789	broad.mit.edu	37	11	62416125	62416125	+	Missense_Mutation	SNP	G	G	A	rs371125173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62416125G>A	ENST00000330574.2	-	2	1479	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	476					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTTTTTGAGCGCATCTAAAAA	0.587																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1426-1428)gCg>gTg		integrator complex subunit 5		G	VAL/ALA	0,4404		0,0,2202	74.0	77.0	76.0		1427	4.0	0.9	11		76	1,8597	1.2+/-3.3	0,1,4298	no	missense	INTS5	NM_030628.1	64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	476/1020	62416125	1,13001	2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416125G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1427C>T	11.37:g.62416125G>A	ENSP00000327889:p.Ala476Val						p.A476V	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1479	-			476					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1427C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551340	0.27739	0.0	1.16E-4	ENSG00000185085	ENST00000330574	.	.	.	4.87	3.96	0.45880	.	0.059338	0.64402	D	0.000003	T	0.34513	0.0900	N	0.14661	0.345	0.34055	D	0.65659	B	0.15141	0.012	B	0.06405	0.002	T	0.43621	-0.9380	9	0.54805	T	0.06	.	10.9735	0.47452	0.0909:0.0:0.9091:0.0	.	476	Q6P9B9	INT5_HUMAN	V	476	.	ENSP00000327889:A476V	A	-	2	0	INTS5	62172701	1.000000	0.71417	0.859000	0.33776	0.547000	0.35210	3.528000	0.53524	1.287000	0.44583	-0.140000	0.14226	GCG		0.587	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		143	641	0	0	0	1	0	143	641				
F10	2159	broad.mit.edu	37	13	113803779	113803779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803779C>A	ENST00000375559.3	+	8	1453	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	472					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	AGGGGCTTGCCCAAGGCCAAG	0.582																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1414-1416)cCc>cAc		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						111.0	95.0	101.0					13																	113803779		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803779C>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1415C>A	13.37:g.113803779C>A	ENSP00000364709:p.Pro472His					F10_ENST00000375551.3_3'UTR	p.P472H	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1453	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	472					Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1415C>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	9.834	1.189142	0.21954	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	2.37	2.37	0.29283	.	2.443350	0.01620	N	0.022984	D	0.89206	0.6649	L	0.46157	1.445	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.73572	-0.3940	9	.	.	.	.	8.3325	0.32195	0.0:1.0:0.0:0.0	.	472	P00742	FA10_HUMAN	H	472	ENSP00000364709:P472H	.	P	+	2	0	F10	112851780	0.001000	0.12720	0.007000	0.13788	0.018000	0.09664	0.876000	0.28092	1.626000	0.50381	0.561000	0.74099	CCC		0.582	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			71	432	1	0	2.0493e-37	1	2.46103e-37	71	432				
MMP8	4317	broad.mit.edu	37	11	102595565	102595565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102595565G>A	ENST00000236826.3	-	1	120	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	8					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGCAGAAATGGAAGCGTCTTC	0.458																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(22-24)Cca>Tca		matrix metallopeptidase 8 (neutrophil collagenase)							165.0	175.0	171.0					11																	102595565		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102595565G>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.22C>T	11.37:g.102595565G>A	ENSP00000236826:p.Pro8Ser						p.P8S	NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	1	120	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	8					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.22C>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702308	0.30232	.	.	ENSG00000118113	ENST00000236826	T	0.12361	2.69	5.26	0.871	0.19107	.	1.388890	0.04912	N	0.453405	T	0.13543	0.0328	L	0.45352	1.415	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.42015	-0.9476	10	0.15499	T	0.54	.	11.4239	0.49998	0.0:0.5293:0.3352:0.1356	.	8	P22894	MMP8_HUMAN	S	8	ENSP00000236826:P8S	ENSP00000236826:P8S	P	-	1	0	MMP8	102100775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.246000	0.18160	-0.023000	0.13963	-0.176000	0.13171	CCA		0.458	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		153	643	0	0	0	1	0	153	643				
TRIM45	80263	broad.mit.edu	37	1	117658224	117658224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117658224C>A	ENST00000256649.4	-	4	1966	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C|TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	480					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TGATGCAGACCCACACAGTAT	0.488																																						ENST00000256649.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(1438-1440)tgG>tgT		tripartite motif containing 45							249.0	208.0	222.0					1																	117658224		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117658224C>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1440G>T	1.37:g.117658224C>A	ENSP00000256649:p.Trp480Cys					TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C|TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C	p.W480C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	4	1966	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	480					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.1440G>T	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655905	0.14580	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.83755	-1.76;-1.76;-1.76	4.91	2.95	0.34219	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.406040	0.28595	N	0.014782	T	0.52125	0.1715	N	0.10837	0.055	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.51865	-0.8651	10	0.35671	T	0.21	-7.111	12.0408	0.53452	0.0:0.5466:0.4534:0.0	.	462;480	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	C	480;462;423	ENSP00000256649:W480C;ENSP00000358476:W462C;ENSP00000358473:W423C	ENSP00000256649:W480C	W	-	3	0	TRIM45	117459747	1.000000	0.71417	0.998000	0.56505	0.267000	0.26476	2.562000	0.45914	1.292000	0.44672	0.563000	0.77884	TGG		0.488	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		29	337	1	0	5.90632e-09	1	6.19411e-09	29	337				
ATP4A	495	broad.mit.edu	37	19	36054427	36054427	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36054427C>T	ENST00000262623.3	-	2	43	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	5					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCTCATAGTTCTCCTGGGAAT	0.637																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(13-15)gaG>gaA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						96.0	102.0	100.0					19																	36054427		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054427C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.15G>A	19.37:g.36054427C>T							p.E5E	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	43	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		5					O00738	Silent	SNP	ENST00000262623.3	37	c.15G>A	CCDS12467.1																																																																																				0.637	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		186	728	0	0	0	1	0	186	728				
PMS2	5395	broad.mit.edu	37	7	6035166	6035166	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6035166T>G	ENST00000265849.7	-	8	1007	c.902A>C	c.(901-903)aAg>aCg	p.K301T	PMS2_ENST00000441476.2_Splice_Site_p.K195T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Splice_Site_p.K301T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	301					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTTAAATACCTTTGCTGGGTC	0.388			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e8+1	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							82.0	78.0	80.0					7																	6035166		2203	4300	6503	SO:0001630	splice_region_variant	5395	Turcot 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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6035166T>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.903+1A>C	7.37:g.6035166T>G						PMS2_ENST00000406569.3_Splice_Site_p.K301_splice|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Splice_Site_p.K195_splice|PMS2_ENST00000469652.1_Intron	p.K301_splice	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	8	1007	-		Ovarian(82;0.0694)	301					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	37	c.903_splice	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	19.36	3.813482	0.70912	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.84223	-1.82;-1.82;-1.82	5.72	5.72	0.89469	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.157726	0.56097	D	0.000039	D	0.91129	0.7207	M	0.84082	2.675	0.80722	D	1	P;D;P	0.57899	0.715;0.981;0.88	P;P;P	0.60068	0.47;0.868;0.603	D	0.89580	0.3820	10	0.20519	T	0.43	-21.4466	16.0509	0.80763	0.0:0.0:0.0:1.0	.	301;301;195	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	T	301;254;195;301	ENSP00000265849:K301T;ENSP00000392843:K195T;ENSP00000384308:K301T	ENSP00000265849:K301T	K	-	2	0	PMS2	6001692	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.957000	0.70323	2.188000	0.69820	0.456000	0.33151	AAG		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	Missense_Mutation	60	265	0	0	0	1	0	60	265				
NPC1L1	29881	broad.mit.edu	37	7	44561319	44561319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561319G>A	ENST00000289547.4	-	12	3000	c.2945C>T	c.(2944-2946)tCg>tTg	p.S982L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	982					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.S982L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTGACGGTCGAGGGGCAGAA	0.587																																						ENST00000289547.4																			1	Substitution - Missense(1)	p.S982L(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2944-2946)tCg>tTg		NPC1-like 1	Ezetimibe(DB00973)						71.0	71.0	71.0					7																	44561319		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561319G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2945C>T	7.37:g.44561319G>A	ENSP00000289547:p.Ser982Leu					NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	p.S982L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			12	3000	-			982					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2945C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439750	0.63067	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93604	-3.13;-3.14;-3.25	5.49	5.49	0.81192	.	0.072905	0.56097	D	0.000026	D	0.93080	0.7797	M	0.67517	2.055	0.48901	D	0.999727	P;P;D	0.64830	0.873;0.95;0.994	B;B;P	0.48840	0.225;0.372;0.592	D	0.91030	0.4863	10	0.11182	T	0.66	-10.3843	16.8538	0.86000	0.0:0.0:1.0:0.0	.	936;982;982	B7ZLE6;Q17RV5;D3DVK9	.;.;.	L	982;982;936	ENSP00000289547:S982L;ENSP00000370552:S982L;ENSP00000438033:S936L	ENSP00000289547:S982L	S	-	2	0	NPC1L1	44527844	1.000000	0.71417	0.949000	0.38748	0.062000	0.15995	8.339000	0.90041	2.586000	0.87340	0.655000	0.94253	TCG		0.587	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		64	290	0	0	0	1	0	64	290				
ERF	2077	broad.mit.edu	37	19	42752816	42752816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42752816C>T	ENST00000222329.4	-	4	1605	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.R408H|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	483					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGCTTAAAGCGTAGCTTGAG	0.677																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1447-1449)cGc>cAc		Ets2 repressor factor							35.0	41.0	39.0					19																	42752816		2203	4292	6495	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42752816C>T	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1448G>A	19.37:g.42752816C>T	ENSP00000222329:p.Arg483His					ERF_ENST00000440177.2_Missense_Mutation_p.R408H|AC006486.9_ENST00000594664.1_Intron	p.R483H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1605	-		Prostate(69;0.00682)	483					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1448G>A	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448516	0.84101	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.39229	2.07;1.09	4.12	4.12	0.48240	.	0.000000	0.33040	U	0.005349	T	0.58538	0.2129	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.62656	-0.6808	10	0.87932	D	0	.	14.2641	0.66104	0.0:1.0:0.0:0.0	.	483	P50548	ERF_HUMAN	H	483;408	ENSP00000222329:R483H;ENSP00000388173:R408H	ENSP00000222329:R483H	R	-	2	0	ERF	47444656	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.317000	0.72862	2.297000	0.77311	0.561000	0.74099	CGC		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		101	495	0	0	0	1	0	101	495				
USP6NL	9712	broad.mit.edu	37	10	11523859	11523859	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11523859C>T	ENST00000609104.1	-	14	1382	c.988G>A	c.(988-990)Gat>Aat	p.D330N	USP6NL_ENST00000379237.2_Missense_Mutation_p.D353N|USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	330					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGAAAAAATCCTTTGCCAGG	0.353																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(988-990)Gat>Aat		USP6 N-terminal like							44.0	42.0	43.0					10																	11523859		1793	4062	5855	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11523859C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.988G>A	10.37:g.11523859C>T	ENSP00000476462:p.Asp330Asn					USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N	p.D330N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			14	1382	-			330					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.988G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104746	0.56291	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.22336	1.96;1.96	5.55	3.65	0.41850	Rab-GAP/TBC domain (1);	0.215793	0.48286	N	0.000186	T	0.17238	0.0414	L	0.37800	1.135	0.58432	D	0.999999	P;P	0.37824	0.609;0.537	B;B	0.36186	0.17;0.219	T	0.02156	-1.1204	10	0.49607	T	0.09	.	11.8328	0.52305	0.0:0.8678:0.0:0.1322	.	330;347	Q92738;Q92738-2	US6NL_HUMAN;.	N	330;347;330	ENSP00000277575:D347N;ENSP00000368539:D330N	ENSP00000277575:D347N	D	-	1	0	USP6NL	11563865	0.995000	0.38212	0.992000	0.48379	0.988000	0.76386	1.455000	0.35190	0.654000	0.30846	0.591000	0.81541	GAT		0.353	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		15	100	0	0	0	1	0	15	100				
TTC37	9652	broad.mit.edu	37	5	94877557	94877557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94877557C>T	ENST00000358746.2	-	6	586	c.288G>A	c.(286-288)ttG>ttA	p.L96L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	96						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAACACCAGGCAAGTCATCCT	0.323																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(286-288)ttG>ttA		tetratricopeptide repeat domain 37							86.0	86.0	86.0					5																	94877557		2203	4299	6502	SO:0001819	synonymous_variant	9652						binding	g.chr5:94877557C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.288G>A	5.37:g.94877557C>T							p.L96L	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			6	586	-			96					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.288G>A	CCDS4072.1																																																																																				0.323	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		7	203	0	0	0	1	0	7	203				
SHROOM3	57619	broad.mit.edu	37	4	77661560	77661560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661560C>T	ENST00000296043.6	+	5	3187	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	745					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCGAAGAGCCGCCTGCCCCC	0.697																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2233-2235)cCg>cTg		shroom family member 3							16.0	20.0	18.0					4																	77661560		2188	4281	6469	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661560C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2234C>T	4.37:g.77661560C>T	ENSP00000296043:p.Pro745Leu						p.P745L	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3187	+			745					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2234C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	1.467	-0.560874	0.03939	.	.	ENSG00000138771	ENST00000296043	T	0.30981	1.51	4.93	1.23	0.21249	.	1.031020	0.07679	N	0.936730	T	0.27900	0.0687	L	0.48362	1.52	0.09310	N	1	B;B;B	0.22211	0.066;0.066;0.066	B;B;B	0.14023	0.006;0.01;0.01	T	0.30327	-0.9982	10	0.23302	T	0.38	-2.7222	12.1817	0.54216	0.0:0.6199:0.0:0.3801	.	569;745;523	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	745	ENSP00000296043:P745L	ENSP00000296043:P745L	P	+	2	0	SHROOM3	77880584	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.382000	0.20635	-0.120000	0.11809	-2.041000	0.00417	CCG		0.697	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		29	288	0	0	0	1	0	29	288				
KIAA1549L	25758	broad.mit.edu	37	11	33689517	33689517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33689517G>A	ENST00000321505.4	+	20	5547	c.5367G>A	c.(5365-5367)ctG>ctA	p.L1789L	KIAA1549L_ENST00000389726.3_Silent_p.L1795L|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1789						integral component of membrane (GO:0016021)											CAGCCAACCTGCACCCCAGCC	0.672																																						ENST00000321505.4																			0											c.(5365-5367)ctG>ctA		KIAA1549-like							27.0	34.0	32.0					11																	33689517		2028	4182	6210	SO:0001819	synonymous_variant	25758							g.chr11:33689517G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5367G>A	11.37:g.33689517G>A						RP4-541C22.5_ENST00000534431.1_RNA|KIAA1549L_ENST00000389726.3_Silent_p.L1795L	p.L1789L							20	5547	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.5367G>A	CCDS44565.2																																																																																				0.672	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		47	169	0	0	0	1	0	47	169				
PRG4	10216	broad.mit.edu	37	1	186277192	186277192	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277192A>C	ENST00000445192.2	+	7	2386	c.2341A>C	c.(2341-2343)Act>Cct	p.T781P	PRG4_ENST00000367485.4_Missense_Mutation_p.T688P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T738P|PRG4_ENST00000367483.4_Missense_Mutation_p.T740P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	781	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCTAAGGGGACTGCTCCAAC	0.607																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2341-2343)Act>Cct		proteoglycan 4							178.0	200.0	193.0					1																	186277192		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277192A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2341A>C	1.37:g.186277192A>C	ENSP00000399679:p.Thr781Pro					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T738P|PRG4_ENST00000367485.4_Missense_Mutation_p.T688P|PRG4_ENST00000367483.4_Missense_Mutation_p.T740P	p.T781P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2386	+			781			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2341A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	2.321	-0.355653	0.05138	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05139	3.49;3.6;3.49;3.6	1.98	-3.96	0.04106	.	0.207690	0.23756	N	0.044868	T	0.01320	0.0043	N	0.01188	-0.97	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.35375	-0.9791	9	.	.	.	.	0.9912	0.01457	0.4995:0.1573:0.1362:0.207	.	647;688;781;740	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	738;647;740;688;781	ENSP00000356456:T738P;ENSP00000356453:T740P;ENSP00000356455:T688P;ENSP00000399679:T781P	.	T	+	1	0	PRG4	184543815	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-2.259000	0.01178	-1.373000	0.02134	-0.554000	0.04202	ACT		0.607	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		95	1141	0	0	0	1	0	95	1141				
LOXL3	84695	broad.mit.edu	37	2	74762766	74762766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74762766G>A	ENST00000264094.3	-	8	1436	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	LOXL3_ENST00000393937.2_Silent_p.A310A|LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	455	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGGCCACCATGGCCTCCAGGG	0.647																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1363-1365)gcC>gcT		lysyl oxidase-like 3							79.0	91.0	87.0					2																	74762766		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762766G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1365C>T	2.37:g.74762766G>A						LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.A310A	p.A455A	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			8	1436	-			455			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1365C>T	CCDS1953.1																																																																																				0.647	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		295	701	0	0	0	1	0	295	701				
GDI2	2665	broad.mit.edu	37	10	5810310	5810310	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5810310T>C	ENST00000380191.4	-	8	1147	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C|GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	286					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ATCTTTTACGTAGCTGGGGTC	0.468																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(856-858)tAc>tGc		GDP dissociation inhibitor 2							98.0	87.0	91.0					10																	5810310		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5810310T>C	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.857A>G	10.37:g.5810310T>C	ENSP00000369538:p.Tyr286Cys					GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C	p.Y286C	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			8	1147	-			286					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.857A>G	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705581	0.68615	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.89658	3.05	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.85130	0.993;0.981;0.997	D	0.97490	1.0053	10	0.87932	D	0	-20.6714	16.1557	0.81666	0.0:0.0:0.0:1.0	.	290;241;286	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	C	286;119;114;290;241	ENSP00000369538:Y286C;ENSP00000387565:Y114C;ENSP00000369475:Y290C;ENSP00000369528:Y241C	ENSP00000369475:Y290C	Y	-	2	0	GDI2	5850316	1.000000	0.71417	0.932000	0.37286	0.354000	0.29330	7.919000	0.87513	2.291000	0.77112	0.533000	0.62120	TAC		0.468	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		52	205	0	0	0	1	0	52	205				
FAM83H	286077	broad.mit.edu	37	8	144808550	144808550	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144808550C>T	ENST00000388913.3	-	5	3206	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1027					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCGTTGGCCGTGGCTGAGG	0.682																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3079-3081)acG>acA		family with sequence similarity 83, member H							16.0	23.0	20.0					8																	144808550		2122	4230	6352	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808550C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3081G>A	8.37:g.144808550C>T							p.T1027T	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3206	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1027					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.3081G>A	CCDS6410.2																																																																																				0.682	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		7	95	0	0	0	1	0	7	95				
SCAI	286205	broad.mit.edu	37	9	127791943	127791943	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127791943C>T	ENST00000336505.6	-	4	364	c.306G>A	c.(304-306)tgG>tgA	p.W102*	SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	102	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GCTGGAACTTCCAGAGTTTGG	0.368																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(304-306)tgG>tgA		suppressor of cancer cell invasion							83.0	79.0	80.0					9																	127791943		1848	4099	5947	SO:0001587	stop_gained	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127791943C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.306G>A	9.37:g.127791943C>T	ENSP00000336756:p.Trp102*					SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	p.W102*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			4	364	-			102			Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Nonsense_Mutation	SNP	ENST00000336505.6	37	c.306G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	36	5.853612	0.97030	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7216	18.7503	0.91812	0.0:1.0:0.0:0.0	.	.	.	.	X	102;125	.	ENSP00000336756:W102X	W	-	3	0	SCAI	126831764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.488000	0.81441	2.775000	0.95449	0.655000	0.94253	TGG		0.368	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		30	130	0	0	0	1	0	30	130				
TMEM132E	124842	broad.mit.edu	37	17	32965106	32965106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32965106C>T	ENST00000321639.5	+	10	3138	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	937						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGGAGCTGGCCTATGACTCG	0.697																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2809-2811)gCc>gTc		transmembrane protein 132E							10.0	12.0	12.0					17																	32965106		2195	4277	6472	SO:0001583	missense	124842					integral to membrane		g.chr17:32965106C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2810C>T	17.37:g.32965106C>T	ENSP00000316532:p.Ala937Val						p.A937V	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	3138	+			937					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2810C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558345	0.45590	.	.	ENSG00000181291	ENST00000321639	T	0.06142	3.34	4.89	4.89	0.63831	.	0.117206	0.64402	D	0.000020	T	0.05502	0.0145	L	0.27053	0.805	0.40800	D	0.983337	B	0.23891	0.093	B	0.19666	0.026	T	0.32745	-0.9895	10	0.48119	T	0.1	-33.8477	10.7548	0.46230	0.0:0.9136:0.0:0.0864	.	937	Q6IEE7	T132E_HUMAN	V	937	ENSP00000316532:A937V	ENSP00000316532:A937V	A	+	2	0	TMEM132E	29989219	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.877000	0.48506	2.552000	0.86080	0.643000	0.83706	GCC		0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		10	60	0	0	0	1	0	10	60				
PXDN	7837	broad.mit.edu	37	2	1652088	1652088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1652088G>A	ENST00000252804.4	-	17	3514	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1155					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGATGGCCGCCAGGTCCAG	0.642																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3463-3465)gCg>gTg		peroxidasin homolog (Drosophila)							62.0	74.0	70.0					2																	1652088		2056	4219	6275	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652088G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3464C>T	2.37:g.1652088G>A	ENSP00000252804:p.Ala1155Val						p.A1155V	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3514	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1155					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3464C>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030543	0.93575	.	.	ENSG00000130508	ENST00000252804	T	0.71698	-0.59	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81395	-0.0952	10	0.45353	T	0.12	-31.4364	19.6424	0.95763	0.0:0.0:1.0:0.0	.	1155	Q92626	PXDN_HUMAN	V	1155	ENSP00000252804:A1155V	ENSP00000252804:A1155V	A	-	2	0	PXDN	1631095	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.759000	0.98931	2.645000	0.89757	0.650000	0.86243	GCG		0.642	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		46	598	0	0	0	1	0	46	598				
CPO	130749	broad.mit.edu	37	2	207823081	207823081	+	Silent	SNP	C	C	T	rs375384008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207823081C>T	ENST00000272852.3	+	4	370	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	108						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTGGAATTCACGCCAGAGAAT	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20791	0.0		0.0	False		,,,				2504	0.0					ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(322-324)caC>caT		carboxypeptidase O		C		0,4406		0,0,2203	215.0	203.0	207.0		324	-2.0	1.0	2		207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPO	NM_173077.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		108/375	207823081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207823081C>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.324C>T	2.37:g.207823081C>T							p.H108H	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	4	370	+			108					Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	c.324C>T	CCDS2372.1																																																																																				0.408	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		40	982	0	0	0	1	0	40	982				
OR5AS1	219447	broad.mit.edu	37	11	55798820	55798820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798820G>T	ENST00000313555.1	+	1	926	c.926G>T	c.(925-927)gGa>gTa	p.G309V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GAAAGAATTGGATATTCAAAT	0.289																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(925-927)gGa>gTa		olfactory receptor, family 5, subfamily AS, member 1							46.0	53.0	51.0					11																	55798820		2197	4294	6491	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798820G>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.926G>T	11.37:g.55798820G>T	ENSP00000324111:p.Gly309Val						p.G309V	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	926	+	Esophageal squamous(21;0.00693)		309					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.926G>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.563982	0.00903	.	.	ENSG00000181785	ENST00000313555	T	0.00355	7.91	3.1	-1.18	0.09617	.	.	.	.	.	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.06899	-1.0801	9	0.15499	T	0.54	.	3.8059	0.08777	0.2877:0.0:0.4271:0.2851	.	309	Q8N127	O5AS1_HUMAN	V	309	ENSP00000324111:G309V	ENSP00000324111:G309V	G	+	2	0	OR5AS1	55555396	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.628000	0.05515	-0.586000	0.05898	-3.086000	0.00065	GGA		0.289	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		36	247	1	0	9.04072e-19	1	1.00536e-18	36	247				
SLC46A3	283537	broad.mit.edu	37	13	29287142	29287142	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287142A>G	ENST00000266943.6	-	3	1104	c.735T>C	c.(733-735)acT>acC	p.T245T	SLC46A3_ENST00000380814.4_Silent_p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	245					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATGTAAGTTCGGTAAA	0.333																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(733-735)acT>acC		solute carrier family 46, member 3							42.0	42.0	42.0					13																	29287142		2203	4298	6501	SO:0001819	synonymous_variant	283537				transmembrane transport	integral to membrane		g.chr13:29287142A>G		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.735T>C	13.37:g.29287142A>G						SLC46A3_ENST00000380814.4_Silent_p.T245T	p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	3	1104	-		Lung SC(185;0.0367)	245					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	37	c.735T>C	CCDS9332.1																																																																																				0.333	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		31	132	0	0	0	1	0	31	132				
GIMAP1	170575	broad.mit.edu	37	7	150417218	150417218	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417218C>A	ENST00000307194.5	+	3	266	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	42	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGAGCGCCACTGGGAACA	0.627																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(124-126)gcC>gcA		GTPase, IMAP family member 1							74.0	81.0	78.0					7																	150417218		2203	4300	6503	SO:0001819	synonymous_variant	170575							g.chr7:150417218C>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.126C>A	7.37:g.150417218C>A							p.A42A	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	266	+								B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.126C>A	CCDS5906.1																																																																																				0.627	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		164	672	1	0	1.69274e-77	1	2.16115e-77	164	672				
MEFV	4210	broad.mit.edu	37	16	3293600	3293600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3293600C>T	ENST00000219596.1	-	10	1926	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.L449L|MEFV_ENST00000536379.1_Silent_p.L418L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	629	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCATCAGGCAGCCTCTCCC	0.502																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1885-1887)ctG>ctA		Mediterranean fever	Colchicine(DB01394)						178.0	192.0	187.0					16																	3293600		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293600C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1887G>A	16.37:g.3293600C>T						MEFV_ENST00000536379.1_Silent_p.L418L|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.L449L	p.L629L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1926	-			629			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1887G>A	CCDS10498.1																																																																																				0.502	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		288	1307	0	0	0	1	0	288	1307				
JAG2	3714	broad.mit.edu	37	14	105621927	105621927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105621927C>T	ENST00000331782.3	-	5	1163	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	JAG2_ENST00000347004.2_Missense_Mutation_p.G254R|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	254	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCATCCCCCGTGGAGCAAA	0.647																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(760-762)Ggg>Agg		jagged 2							100.0	100.0	100.0					14																	105621927		2203	4300	6503	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105621927C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.760G>A	14.37:g.105621927C>T	ENSP00000328169:p.Gly254Arg					JAG2_ENST00000347004.2_Missense_Mutation_p.G254R|RP11-44N21.4_ENST00000548203.1_RNA	p.G254R	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	5	1163	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	254			EGF-like 1.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.760G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694988	0.68386	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;T	0.48836	0.8;0.8	3.76	3.76	0.43208	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.76300	0.3968	H	0.94964	3.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84545	0.0641	10	0.87932	D	0	.	14.9103	0.70752	0.0:1.0:0.0:0.0	.	254;254	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	R	254	ENSP00000328169:G254R;ENSP00000328566:G254R	ENSP00000328169:G254R	G	-	1	0	JAG2	104692972	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.059000	0.76684	1.796000	0.52611	0.563000	0.77884	GGG		0.647	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			119	545	0	0	0	1	0	119	545				
OLFM2	93145	broad.mit.edu	37	19	9964924	9964924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9964924C>T	ENST00000264833.4	-	6	1488	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	435	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACCTGGTGGCCGTTGTTCCAG	0.602																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1303-1305)Ggc>Agc		olfactomedin 2							93.0	81.0	85.0					19																	9964924		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9964924C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1303G>A	19.37:g.9964924C>T	ENSP00000264833:p.Gly435Ser					OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S	p.G435S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1488	-			435			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1303G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172235	0.78452	.	.	ENSG00000105088	ENST00000264833	D	0.91124	-2.79	4.3	4.3	0.51218	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96436	0.9323	9	.	.	.	.	14.3013	0.66355	0.0:1.0:0.0:0.0	.	435	O95897	NOE2_HUMAN	S	435	ENSP00000264833:G435S	.	G	-	1	0	OLFM2	9825924	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.556000	0.82233	2.204000	0.70986	0.561000	0.74099	GGC		0.602	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			77	301	0	0	0	1	0	77	301				
RNF123	63891	broad.mit.edu	37	3	49757969	49757969	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49757969C>A	ENST00000327697.6	+	36	3670	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M	RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000535833.1_De_novo_Start_OutOfFrame|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1176					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ATCAGTGCTCCTGGCAGATCC	0.597																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5								adhesion molecule with Ig-like domain 3							50.0	41.0	44.0					3																	49757969		2203	4300	6503	SO:0001583	missense	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49757969C>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3526C>A	3.37:g.49757969C>A	ENSP00000328287:p.Leu1176Met					RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000327697.6_Missense_Mutation_p.L1176M				Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	0	2380	-								A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Translation_Start_Site	SNP	ENST00000327697.6	37		CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331587	0.60853	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.76448	-1.02	4.97	3.03	0.35002	.	0.000000	0.64402	D	0.000008	D	0.82379	0.5024	L	0.55990	1.75	0.47183	D	0.999348	D	0.71674	0.998	D	0.80764	0.994	T	0.82000	-0.0674	10	0.62326	D	0.03	-13.6696	8.1277	0.31008	0.0:0.735:0.0:0.265	.	1176	Q5XPI4	RN123_HUMAN	M	1176;1176;288	ENSP00000328287:L1176M	ENSP00000328287:L1176M	L	+	1	2	RNF123	49732973	0.922000	0.31269	1.000000	0.80357	0.969000	0.65631	1.594000	0.36697	1.331000	0.45412	0.561000	0.74099	CTG		0.597	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		58	240	1	0	3.76997e-23	1	4.28119e-23	58	240				
OTOF	9381	broad.mit.edu	37	2	26705280	26705280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26705280C>T	ENST00000272371.2	-	14	1699	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	525					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTTTGTCTCCGTCATTA	0.572																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1573-1575)Gac>Aac		otoferlin							69.0	64.0	65.0					2																	26705280		2203	4299	6502	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26705280C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1573G>A	2.37:g.26705280C>T	ENSP00000272371:p.Asp525Asn					OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	p.D525N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			14	1699	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		525					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1573G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272530	0.95429	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80738	-1.41;-1.41	5.13	5.13	0.70059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.049114	0.85682	D	0.000000	D	0.89536	0.6743	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88357	0.2985	10	0.33940	T	0.23	-40.0469	18.1792	0.89772	0.0:1.0:0.0:0.0	.	525	Q9HC10	OTOF_HUMAN	N	525	ENSP00000272371:D525N;ENSP00000385255:D525N	ENSP00000272371:D525N	D	-	1	0	OTOF	26558784	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.770000	0.85390	2.396000	0.81511	0.561000	0.74099	GAC		0.572	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			91	295	0	0	0	1	0	91	295				
KIF27	55582	broad.mit.edu	37	9	86523489	86523489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86523489C>T	ENST00000297814.2	-	3	520	c.377G>A	c.(376-378)aGc>aAc	p.S126N	KIF27_ENST00000413982.1_Missense_Mutation_p.S126N|KIF27_ENST00000334204.2_Missense_Mutation_p.S126N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	126	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAAGTCAATGCTAGGATGTTC	0.363																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(376-378)aGc>aAc		kinesin family member 27							129.0	143.0	138.0					9																	86523489		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86523489C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.377G>A	9.37:g.86523489C>T	ENSP00000297814:p.Ser126Asn					KIF27_ENST00000334204.2_Missense_Mutation_p.S126N|KIF27_ENST00000413982.1_Missense_Mutation_p.S126N	p.S126N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			3	520	-			126			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.377G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	3.082	-0.188885	0.06299	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72051	-0.62;-0.62;-0.62	5.27	-0.74	0.11115	Kinesin, motor domain (4);	0.413402	0.22375	N	0.060891	T	0.40448	0.1117	N	0.04768	-0.165	0.25894	N	0.98343	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.31833	-0.9929	10	0.06494	T	0.89	.	10.3921	0.44179	0.0:0.2838:0.0:0.7162	.	126;126;126	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	126	ENSP00000297814:S126N;ENSP00000401688:S126N;ENSP00000333928:S126N	ENSP00000297814:S126N	S	-	2	0	KIF27	85713309	0.003000	0.15002	0.977000	0.42913	0.982000	0.71751	0.554000	0.23407	-0.086000	0.12550	0.491000	0.48974	AGC		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		22	767	0	0	0	1	0	22	767				
SLC2A6	11182	broad.mit.edu	37	9	136337292	136337292	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337292A>C	ENST00000371899.4	-	10	1452	c.1375T>G	c.(1375-1377)Ttc>Gtc	p.F459V	SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	459					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGGAGGCCGAAGGTGCTCTGC	0.657																																						ENST00000371899.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10						c.(1375-1377)Ttc>Gtc		solute carrier family 2 (facilitated glucose transporter), member 6							68.0	73.0	72.0					9																	136337292		2203	4300	6503	SO:0001583	missense	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136337292A>C	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1375T>G	9.37:g.136337292A>C	ENSP00000360966:p.Phe459Val					SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V|SLC2A6_ENST00000485978.1_5'UTR	p.F459V	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	10	1452	-			459					A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	c.1375T>G	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478881	0.26511	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.73363	0.24;-0.74	5.3	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118466	0.64402	N	0.000014	T	0.66096	0.2755	L	0.35593	1.075	0.36309	D	0.857513	P;P	0.52316	0.952;0.574	P;B	0.49085	0.6;0.255	T	0.67300	-0.5705	10	0.32370	T	0.25	.	6.2843	0.21025	0.7573:0.1619:0.0808:0.0	.	397;459	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	V	397;459	ENSP00000360964:F397V;ENSP00000360966:F459V	ENSP00000360964:F397V	F	-	1	0	SLC2A6	135327113	1.000000	0.71417	0.990000	0.47175	0.142000	0.21351	3.332000	0.52083	0.826000	0.34661	0.529000	0.55759	TTC		0.657	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		70	251	0	0	0	1	0	70	251				
TBX5	6910	broad.mit.edu	37	12	114823291	114823291	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114823291T>C	ENST00000310346.4	-	7	1411	c.745A>G	c.(745-747)Aga>Gga	p.R249G	TBX5_ENST00000349716.5_Missense_Mutation_p.R199G|TBX5_ENST00000526441.1_Missense_Mutation_p.R249G|TBX5_ENST00000405440.2_Missense_Mutation_p.R249G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	249					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTTTGCATTCTTGACATTCTG	0.483																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(745-747)Aga>Gga		T-box 5							168.0	138.0	148.0					12																	114823291		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114823291T>C	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.745A>G	12.37:g.114823291T>C	ENSP00000309913:p.Arg249Gly					TBX5_ENST00000405440.2_Missense_Mutation_p.R249G|TBX5_ENST00000349716.5_Missense_Mutation_p.R199G|TBX5_ENST00000526441.1_Missense_Mutation_p.R249G	p.R249G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1411	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		249					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.745A>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636878	0.67130	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.27	1.4	0.22301	.	0.108119	0.64402	D	0.000002	D	0.88566	0.6471	M	0.77103	2.36	0.54753	D	0.999989	D;P	0.59767	0.986;0.919	D;B	0.63283	0.913;0.395	D	0.86522	0.1816	10	0.42905	T	0.14	.	12.8566	0.57888	0.0:0.0:0.4062:0.5938	.	249;249	Q99593-2;Q99593	.;TBX5_HUMAN	G	199;249;146;249;249	ENSP00000337723:R199G;ENSP00000309913:R249G;ENSP00000384152:R249G;ENSP00000433292:R249G	ENSP00000309913:R249G	R	-	1	2	TBX5	113307674	0.881000	0.30235	0.925000	0.36789	0.997000	0.91878	0.961000	0.29267	-0.002000	0.14469	0.460000	0.39030	AGA		0.483	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		7	335	0	0	0	1	0	7	335				
AUH	549	broad.mit.edu	37	9	93979605	93979605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93979605G>T	ENST00000375731.4	-	8	871	c.848C>A	c.(847-849)cCt>cAt	p.P283H	AUH_ENST00000303617.5_Missense_Mutation_p.P254H	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	283					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CATTGCAACAGGTCCCTAAAA	0.343																																						ENST00000375731.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(847-849)cCt>cAt		AU RNA binding protein/enoyl-CoA hydratase							96.0	90.0	92.0					9																	93979605		2203	4300	6503	SO:0001583	missense	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:93979605G>T	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.848C>A	9.37:g.93979605G>T	ENSP00000364883:p.Pro283His					AUH_ENST00000303617.5_Missense_Mutation_p.P254H	p.P283H	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN			8	871	-			283					B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	37	c.848C>A	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436352	0.83885	.	.	ENSG00000148090	ENST00000375731;ENST00000303617	T;T	0.80480	-1.38;-1.38	5.21	5.21	0.72293	Crontonase, C-terminal (1);	0.052276	0.85682	D	0.000000	D	0.93546	0.7940	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95237	0.8348	10	0.72032	D	0.01	.	18.9459	0.92622	0.0:0.0:1.0:0.0	.	254;283	Q13825-2;Q13825	.;AUHM_HUMAN	H	283;254	ENSP00000364883:P283H;ENSP00000307334:P254H	ENSP00000307334:P254H	P	-	2	0	AUH	93019426	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.733000	0.91539	2.722000	0.93159	0.591000	0.81541	CCT		0.343	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1			24	299	1	0	4.26978e-12	1	4.57227e-12	24	299				
C2orf16	84226	broad.mit.edu	37	2	27803687	27803687	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803687G>A	ENST00000408964.2	+	1	4299	c.4248G>A	c.(4246-4248)acG>acA	p.T1416T	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1416						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAAGCTAACGCCAGCAGGCT	0.463																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4246-4248)acG>acA		chromosome 2 open reading frame 16							85.0	88.0	87.0					2																	27803687		2023	4178	6201	SO:0001819	synonymous_variant	84226							g.chr2:27803687G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4248G>A	2.37:g.27803687G>A							p.T1416T	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	4299	+	Acute lymphoblastic leukemia(172;0.155)		1416					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.4248G>A	CCDS42666.1																																																																																				0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		50	567	0	0	0	1	0	50	567				
OCIAD1	54940	broad.mit.edu	37	4	48844691	48844691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48844691G>T	ENST00000381473.3	+	4	596	c.178G>T	c.(178-180)Gga>Tga	p.G60*	OCIAD1_ENST00000425583.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	60	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GATTACTCAAGGATTAATTAG	0.284																																						ENST00000425583.2																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(178-180)Gga>Tga		OCIA domain containing 1							67.0	67.0	67.0					4																	48844691		2196	4291	6487	SO:0001587	stop_gained	54940					endosome	protein binding	g.chr4:48844691G>T	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.178G>T	4.37:g.48844691G>T	ENSP00000370882:p.Gly60*					OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*	p.G60*	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			4	453	+			60			OCIA.		C9K030|G8JLN7|Q9BZE8	Nonsense_Mutation	SNP	ENST00000381473.3	37	c.178G>T	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826178	0.90955	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000509664;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	.	.	.	5.57	5.57	0.84162	.	0.295147	0.36482	N	0.002563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.612	10.8701	0.46879	0.0862:0.0:0.9138:0.0	.	.	.	.	X	60;33;60;33;60;60;60;60;60;60;60;60;60;60;60;6;6;6;6;60;60;60	.	ENSP00000264312:G60X	G	+	1	0	OCIAD1	48539448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.785000	0.95823	0.655000	0.94253	GGA		0.284	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		25	189	1	0	1.7367e-05	1	1.77815e-05	25	189				
TBC1D2B	23102	broad.mit.edu	37	15	78316861	78316861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78316861C>T	ENST00000300584.3	-	6	1106	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q	TBC1D2B_ENST00000409931.3_Silent_p.Q369Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	369							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGACTGTCTGCTGGAGCAGTC	0.517																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1105-1107)caG>caA		TBC1 domain family, member 2B							46.0	50.0	48.0					15																	78316861		2196	4293	6489	SO:0001819	synonymous_variant	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78316861C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1107G>A	15.37:g.78316861C>T						TBC1D2B_ENST00000300584.3_Silent_p.Q369Q	p.Q369Q			Q9UPU7	TBD2B_HUMAN			6	1178	-			369					A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.1107G>A	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	9.845	1.191961	0.21954	.	.	ENSG00000167202	ENST00000418039	.	.	.	5.55	1.5	0.22942	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52079	-0.8623	4	.	.	.	.	9.9733	0.41768	0.0:0.7174:0.0:0.2826	.	.	.	.	N	251	.	.	S	-	2	0	TBC1D2B	76103916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.866000	0.39489	0.291000	0.22468	0.491000	0.48974	AGC		0.517	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		49	203	0	0	0	1	0	49	203				
AEBP1	165	broad.mit.edu	37	7	44153432	44153432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153432C>T	ENST00000223357.3	+	21	3354	c.3049C>T	c.(3049-3051)Cgc>Tgc	p.R1017C	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1017	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAACAGCGACGCCTGCAGCA	0.662																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3049-3051)Cgc>Tgc		AE binding protein 1							82.0	87.0	85.0					7																	44153432		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153432C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3049C>T	7.37:g.44153432C>T	ENSP00000223357:p.Arg1017Cys					AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C	p.R1017C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3354	+			1017			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3049C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499192	0.64298	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95307	-3.67;-3.09	5.33	3.25	0.37280	.	0.782162	0.12025	N	0.506551	D	0.89164	0.6637	N	0.19112	0.55	0.21984	N	0.999438	D;D	0.58268	0.982;0.97	P;B	0.44732	0.459;0.27	T	0.81852	-0.0742	10	0.62326	D	0.03	-12.0385	7.3391	0.26627	0.2928:0.6046:0.0:0.1025	.	592;1017	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	1017;592	ENSP00000223357:R1017C;ENSP00000398878:R592C	ENSP00000223357:R1017C	R	+	1	0	AEBP1	44119957	0.000000	0.05858	0.510000	0.27712	0.846000	0.48090	0.986000	0.29590	1.241000	0.43820	0.557000	0.71058	CGC		0.662	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		118	514	0	0	0	1	0	118	514				
SPRED2	200734	broad.mit.edu	37	2	65540683	65540683	+	Silent	SNP	G	G	A	rs369939169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540683G>A	ENST00000356388.4	-	6	1398	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	SPRED2_ENST00000443619.2_Silent_p.C400C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	403	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ACATCACTCCGCAGTGGTAGC	0.607																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(1207-1209)tgC>tgT		sprouty-related, EVH1 domain containing 2		G	,	0,4406		0,0,2203	66.0	68.0	67.0		1200,1209	-0.1	0.9	2		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPRED2	NM_001128210.1,NM_181784.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	400/416,403/419	65540683	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540683G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1209C>T	2.37:g.65540683G>A						SPRED2_ENST00000443619.2_Silent_p.C400C	p.C403C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1398	-			403			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	c.1209C>T	CCDS33211.1																																																																																				0.607	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			63	394	0	0	0	1	0	63	394				
VWA3B	200403	broad.mit.edu	37	2	98750321	98750321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750321G>T	ENST00000477737.1	+	7	1111	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	303										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGTGTGTAGAATTTCCTGC	0.458																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(907-909)Gaa>Taa		von Willebrand factor A domain containing 3B							291.0	274.0	280.0					2																	98750321		2048	4205	6253	SO:0001587	stop_gained	200403							g.chr2:98750321G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.907G>T	2.37:g.98750321G>T	ENSP00000417955:p.Glu303*					VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*	p.E303*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			7	1111	+			303					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	ENST00000477737.1	37	c.907G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440653	0.83993	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	5.66	2.81	0.32909	.	1.314060	0.04874	N	0.446518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	7.8642	0.29528	0.0754:0.0:0.6401:0.2844	.	.	.	.	X	303;303;153	.	ENSP00000411168:E303X	E	+	1	0	VWA3B	98116753	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	1.226000	0.32563	0.290000	0.22444	-0.169000	0.13324	GAA		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		196	954	1	0	1.26091e-62	1	1.58936e-62	196	954				
ZNF787	126208	broad.mit.edu	37	19	56614364	56614364	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614364C>T	ENST00000270459.3	-	2	198				Y_RNA_ENST00000411128.1_RNA|ZNF787_ENST00000587279.1_Missense_Mutation_p.A75T	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		AGGCCCAGGGCGGGAGGGGAG	0.647																																						ENST00000587279.1																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(223-225)Gcc>Acc		zinc finger protein 787																																				SO:0001627	intron_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56614364C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.79+143G>A	19.37:g.56614364C>T						ZNF787_ENST00000270459.3_Intron	p.A75T			Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	2	311	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	0					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.223G>A	CCDS42634.1																																																																																				0.647	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		10	32	0	0	0	1	0	10	32				
ZBED9	114821	broad.mit.edu	37	6	28541211	28541211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28541211C>T	ENST00000452236.2	-	4	3072	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcccgcaaagcactaatgttt	0.373																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2455-2457)Gct>Act		SCAN domain containing 3							118.0	113.0	115.0					6																	28541211		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541211C>T																												ENST00000452236.2:c.2455G>A	6.37:g.28541211C>T	ENSP00000395259:p.Ala819Thr						p.A819T	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3072	-			819						Missense_Mutation	SNP	ENST00000452236.2	37	c.2455G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213948	0.58452	.	.	ENSG00000232040	ENST00000452236	T	0.01685	4.69	2.27	2.27	0.28462	.	0.000000	0.56097	U	0.000035	T	0.02380	0.0073	L	0.52011	1.625	0.26505	N	0.974691	D	0.57571	0.98	D	0.72338	0.977	T	0.43893	-0.9363	10	0.49607	T	0.09	.	8.144	0.31100	0.0:1.0:0.0:0.0	.	819	Q6R2W3	SCND3_HUMAN	T	819	ENSP00000395259:A819T	ENSP00000395259:A819T	A	-	1	0	SCAND3	28649190	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.852000	0.39348	1.581000	0.49865	0.655000	0.94253	GCT		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			109	474	0	0	0	1	0	109	474				
PRKD2	25865	broad.mit.edu	37	19	47194999	47194999	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47194999G>T	ENST00000291281.4	-	12	1920	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	PRKD2_ENST00000595515.1_Silent_p.V565V|PRKD2_ENST00000601806.1_Silent_p.V408V|PRKD2_ENST00000600194.1_Silent_p.V408V|PRKD2_ENST00000433867.1_Silent_p.V565V|RN7SL364P_ENST00000473668.2_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	565	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCTCCATAGACCACTCCAA	0.587																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1693-1695)gtC>gtA		protein kinase D2							89.0	87.0	88.0					19																	47194999		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47194999G>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1695C>A	19.37:g.47194999G>T						PRKD2_ENST00000601806.1_Silent_p.V408V|PRKD2_ENST00000600194.1_Silent_p.V408V|PRKD2_ENST00000595515.1_Silent_p.V565V|PRKD2_ENST00000291281.4_Silent_p.V565V	p.V565V	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	13	2172	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	565			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1695C>A	CCDS12689.1																																																																																				0.587	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		72	387	1	0	4.20717e-43	1	5.13249e-43	72	387				
LSMEM1	286006	broad.mit.edu	37	7	112129971	112129971	+	Silent	SNP	C	C	T	rs372597380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112129971C>T	ENST00000312849.4	+	4	724	c.363C>T	c.(361-363)aaC>aaT	p.N121N	LSMEM1_ENST00000439068.2_Silent_p.N121N|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	121						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											AGCGACTCAACCAACTCAACC	0.398																																						ENST00000312849.4																			0											c.(361-363)aaC>aaT		leucine-rich single-pass membrane protein 1							164.0	153.0	157.0					7																	112129971		2203	4300	6503	SO:0001819	synonymous_variant	286006							g.chr7:112129971C>T	AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.363C>T	7.37:g.112129971C>T						LSMEM1_ENST00000439068.2_Silent_p.N121N|LSMEM1_ENST00000486022.1_3'UTR	p.N121N	NM_182597.2	NP_872403.1					4	724	+								Q49AR6	Silent	SNP	ENST00000312849.4	37	c.363C>T	CCDS5756.1																																																																																				0.398	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597		92	562	0	0	0	1	0	92	562				
RICTOR	253260	broad.mit.edu	37	5	38942978	38942978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38942978C>T	ENST00000357387.3	-	37	5039	c.5009G>A	c.(5008-5010)cGg>cAg	p.R1670Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGAACCTCCGACACGGAAG	0.343																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(5008-5010)cGg>cAg		RPTOR independent companion of MTOR, complex 2							86.0	88.0	87.0					5																	38942978		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38942978C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.5009G>A	5.37:g.38942978C>T	ENSP00000349959:p.Arg1670Gln					RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	p.R1670Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			37	5039	-	all_lung(31;0.000396)		1670						Missense_Mutation	SNP	ENST00000357387.3	37	c.5009G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	36	5.952747	0.97139	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.75477	-0.94;-0.87	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.86546	0.1831	10	0.87932	D	0	-9.7854	20.5141	0.99211	0.0:1.0:0.0:0.0	.	1670;1694	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1670;1694	ENSP00000349959:R1670Q;ENSP00000296782:R1694Q	ENSP00000296782:R1694Q	R	-	2	0	RICTOR	38978735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.428000	0.80296	2.850000	0.98022	0.655000	0.94253	CGG		0.343	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		44	157	0	0	0	1	0	44	157				
ARHGAP28	79822	broad.mit.edu	37	18	6868198	6868198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6868198C>T	ENST00000383472.4	+	6	880	c.776C>T	c.(775-777)cCg>cTg	p.P259L	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.P100L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	259					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AATGGATCACCGGAGCCTGGA	0.463																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(298-300)cCg>cTg		Rho GTPase activating protein 28							168.0	141.0	150.0					18																	6868198		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6868198C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.776C>T	18.37:g.6868198C>T	ENSP00000372964:p.Pro259Leu					ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.P259L	p.P100L	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			5	516	+		Colorectal(10;0.168)	82					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.299C>T		.	.	.	.	.	.	.	.	.	.	C	10.65	1.410856	0.25465	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.07021	3.38;3.34;3.3;3.3;3.3;3.23	5.72	3.69	0.42338	.	1.798430	0.02100	N	0.053861	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.21452	0.007;0.005;0.056;0.005	B;B;B;B	0.12837	0.002;0.001;0.008;0.001	T	0.24548	-1.0157	10	0.30854	T	0.27	.	6.5227	0.22285	0.2533:0.6558:0.0:0.0909	.	259;91;100;207	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	259;207;100;95;100;100;91;82	ENSP00000382963:P259L;ENSP00000262227:P207L;ENSP00000392660:P100L;ENSP00000437262:P95L;ENSP00000313506:P100L;ENSP00000406907:P100L	ENSP00000262227:P207L	P	+	2	0	ARHGAP28	6858198	0.006000	0.16342	0.005000	0.12908	0.201000	0.24016	1.625000	0.37029	1.572000	0.49736	0.655000	0.94253	CCG		0.463	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		24	201	0	0	0	1	0	24	201				
DNAH17	8632	broad.mit.edu	37	17	76475586	76475586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76475586C>T	ENST00000585328.1	-	50	7990	c.7866G>A	c.(7864-7866)caG>caA	p.Q2622Q	DNAH17_ENST00000389840.5_Silent_p.Q2613Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2613	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCCACCAGCTGGCTGCTTA	0.602																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(7837-7839)caG>caA		dynein, axonemal, heavy chain 17							55.0	59.0	58.0					17																	76475586		1977	4142	6119	SO:0001819	synonymous_variant	8632							g.chr17:76475586C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7866G>A	17.37:g.76475586C>T						DNAH17_ENST00000585328.1_Silent_p.Q2622Q|DNAH17_ENST00000586052.1_5'UTR	p.Q2613Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		50	7963	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.7839G>A																																																																																					0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		58	262	0	0	0	1	0	58	262				
APOB	338	broad.mit.edu	37	2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559). {ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R3558H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAATATATGCGTTGGAGTGT	0.463																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.R3558H(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10672-10674)cGc>cAc		apolipoprotein B	Atorvastatin(DB01076)						67.0	69.0	68.0					2																	21229067		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229067C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10673G>A	2.37:g.21229067C>T	ENSP00000233242:p.Arg3558His						p.R3558H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10800	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3558		R -> C (in FDB; dbSNP:rs12713559).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10673G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852750	0.51270	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79454	-1.27	5.85	3.74	0.42951	.	0.000000	0.64402	D	0.000016	D	0.86727	0.6002	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.41790	T	0.15	.	13.4888	0.61382	0.0:0.8527:0.0:0.1473	.	3558	P04114	APOB_HUMAN	H	3558	ENSP00000233242:R3558H	ENSP00000233242:R3558H	R	-	2	0	APOB	21082572	0.839000	0.29477	0.956000	0.39512	0.530000	0.34684	1.707000	0.37888	1.478000	0.48253	0.655000	0.94253	CGC		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			135	320	0	0	0	1	0	135	320				
GEN1	348654	broad.mit.edu	37	2	17959282	17959282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17959282C>T	ENST00000381254.2	+	12	1430	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTAAGACTCGAATCAGAAA	0.269								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1216-1218)Cga>Tga	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							77.0	84.0	82.0					2																	17959282		2199	4269	6468	SO:0001587	stop_gained	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17959282C>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1216C>T	2.37:g.17959282C>T	ENSP00000370653:p.Arg406*					GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*|SMC6_ENST00000402989.1_Intron	p.R406*	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			12	1430	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		406					Q17RS9|Q6ZN37	Nonsense_Mutation	SNP	ENST00000381254.2	37	c.1216C>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	38	6.665361	0.97747	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	.	.	.	5.21	3.34	0.38264	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2737	12.8916	0.58073	0.4272:0.5728:0.0:0.0	.	.	.	.	X	406;406;177;43	.	ENSP00000318977:R406X	R	+	1	2	GEN1	17822763	0.979000	0.34478	0.687000	0.30102	0.853000	0.48598	2.467000	0.45093	0.637000	0.30526	-0.181000	0.13052	CGA		0.269	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		69	263	0	0	0	1	0	69	263				
XIRP2	129446	broad.mit.edu	37	2	168103174	168103174	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103174C>A	ENST00000409195.1	+	9	5361	c.5272C>A	c.(5272-5274)Ctg>Atg	p.L1758M	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1583					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTGGATTATCTGAAACAACT	0.373																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5272-5274)Ctg>Atg		xin actin-binding repeat containing 2							89.0	84.0	85.0					2																	168103174		1867	4101	5968	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103174C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5272C>A	2.37:g.168103174C>A	ENSP00000386840:p.Leu1758Met					XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.L1758M	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5361	+			1583					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5272C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845636	0.51164	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.11385	2.8;2.8;2.78	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.77103	2.36	0.58432	D	0.999991	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.963;0.983;0.983	T	0.06661	-1.0814	10	0.66056	D	0.02	-7.2269	18.3299	0.90264	0.0:1.0:0.0:0.0	.	1583;1583;1536	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	M	1758;1758;1536	ENSP00000386840:L1758M;ENSP00000295237:L1758M;ENSP00000387255:L1536M	ENSP00000295237:L1758M	L	+	1	2	XIRP2	167811420	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.764000	0.68826	2.633000	0.89246	0.637000	0.83480	CTG		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		94	266	1	0	4.7146e-34	1	5.60093e-34	94	266				
LOC151174	151174	broad.mit.edu	37	2	239140557	239140557	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239140557C>T	ENST00000409070.1	-	0	0				AC016757.3_ENST00000409376.1_5'Flank|AC096574.4_ENST00000456601.1_RNA|AC016757.3_ENST00000334973.4_5'Flank|AC016757.3_ENST00000470346.1_5'Flank|AC016757.3_ENST00000409942.1_5'Flank																							AAGATGAGAACGATGAGCCCA	0.562																																						ENST00000456601.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr2:239140557C>T																													2.37:g.239140557C>T	Exception_encountered													0	233	+									RNA	SNP	ENST00000409070.1	37																																																																																						0.562	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000328480.1			11	49	0	0	0	1	0	11	49				
DUS3L	56931	broad.mit.edu	37	19	5790078	5790078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5790078G>T	ENST00000309061.7	-	2	463	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	123							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGACACAGCCTGTTCTTG	0.612																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(367-369)Ctg>Atg		dihydrouridine synthase 3-like (S. cerevisiae)							84.0	84.0	84.0					19																	5790078		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790078G>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.367C>A	19.37:g.5790078G>T	ENSP00000311977:p.Leu123Met					DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.L123M	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			2	463	-			123					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.367C>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331403	0.60853	.	.	ENSG00000141994	ENST00000309061	T	0.30981	1.51	4.74	0.0836	0.14434	Zinc finger, CCCH-type (1);	0.000000	0.64402	D	0.000003	T	0.51702	0.1690	M	0.84219	2.685	0.45415	D	0.998391	D	0.76494	0.999	D	0.72625	0.978	T	0.53753	-0.8394	10	0.72032	D	0.01	-14.9503	9.1683	0.37065	0.341:0.0:0.659:0.0	.	123	Q96G46	DUS3L_HUMAN	M	123	ENSP00000311977:L123M	ENSP00000311977:L123M	L	-	1	2	DUS3L	5741078	1.000000	0.71417	0.073000	0.20177	0.876000	0.50452	4.223000	0.58587	0.172000	0.19760	-0.794000	0.03295	CTG		0.612	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		20	244	1	0	7.45023e-12	1	7.97024e-12	20	244				
TCERG1L	256536	broad.mit.edu	37	10	132891434	132891434	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:132891434T>G	ENST00000368642.4	-	12	1837	c.1752A>C	c.(1750-1752)aaA>aaC	p.K584N	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	584										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTCATCTCATTTTCCGCAGCC	0.512																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1750-1752)aaA>aaC		transcription elongation regulator 1-like							113.0	110.0	111.0					10																	132891434		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132891434T>G	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1752A>C	10.37:g.132891434T>G	ENSP00000357631:p.Lys584Asn						p.K584N	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	12	1837	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	584					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1752A>C	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951676	0.73787	.	.	ENSG00000176769	ENST00000368642	T	0.32515	1.45	4.91	-0.0918	0.13659	.	0.000000	0.53938	D	0.000044	T	0.40398	0.1115	L	0.54323	1.7	0.53688	D	0.999972	D	0.69078	0.997	P	0.60789	0.879	T	0.16276	-1.0408	10	0.87932	D	0	-1.323	8.3344	0.32206	0.0:0.332:0.0:0.668	.	584	Q5VWI1	TCRGL_HUMAN	N	584	ENSP00000357631:K584N	ENSP00000357631:K584N	K	-	3	2	TCERG1L	132781424	0.991000	0.36638	0.985000	0.45067	0.984000	0.73092	0.118000	0.15605	-0.280000	0.09154	0.460000	0.39030	AAA		0.512	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		46	231	0	0	0	1	0	46	231				
ZDHHC17	23390	broad.mit.edu	37	12	77239525	77239525	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239525T>C	ENST00000426126.2	+	13	2015	c.1366T>C	c.(1366-1368)Tgc>Cgc	p.C456R	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	456					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTGTGGTGTGTGCAACCGCTG	0.363																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1366-1368)Tgc>Cgc		zinc finger, DHHC-type containing 17							192.0	191.0	191.0					12																	77239525		1877	4100	5977	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77239525T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1366T>C	12.37:g.77239525T>C	ENSP00000403397:p.Cys456Arg					ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R|ZDHHC17_ENST00000550789.1_3'UTR	p.C456R	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			13	2015	+			456					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1366T>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796274	0.90453	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.62364	0.03;0.03	5.48	5.48	0.80851	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.085644	0.85682	D	0.000000	D	0.84524	0.5491	H	0.97131	3.945	0.80722	D	1	P	0.50943	0.94	P	0.59761	0.863	D	0.89798	0.3973	10	0.87932	D	0	-9.4291	15.861	0.79021	0.0:0.0:0.0:1.0	.	456	Q8IUH5	ZDH17_HUMAN	R	456	ENSP00000403397:C456R;ENSP00000334868:C456R	ENSP00000334868:C456R	C	+	1	0	ZDHHC17	75763656	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.860000	0.86993	2.198000	0.70561	0.528000	0.53228	TGC		0.363	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		79	427	0	0	0	1	0	79	427				
CBX3	11335	broad.mit.edu	37	7	26251332	26251332	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26251332T>C	ENST00000337620.4	+	5	809	c.381T>C	c.(379-381)atT>atC	p.I127I	CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.I127I	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	127	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AAAGAATAATTGGTGCCACAG	0.348																																						ENST00000337620.4																			0				endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						c.(379-381)atT>atC		chromobox homolog 3							74.0	74.0	74.0					7																	26251332		2203	4298	6501	SO:0001819	synonymous_variant	11335				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	g.chr7:26251332T>C	U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.381T>C	7.37:g.26251332T>C						CBX3_ENST00000396386.2_Silent_p.I127I|CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000409747.1_3'UTR	p.I127I	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN			5	809	+			127			Chromo 2; shadow subtype.		Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Silent	SNP	ENST00000337620.4	37	c.381T>C	CCDS5398.1																																																																																				0.348	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	NM_007276		59	249	0	0	0	1	0	59	249				
PIP4K2B	8396	broad.mit.edu	37	17	36926743	36926743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36926743C>T	ENST00000269554.3	-	9	1596	c.1116G>A	c.(1114-1116)acG>acA	p.T372T		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	372	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TATCGTATGGCGTGAGGATAT	0.547																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(1114-1116)acG>acA		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							224.0	198.0	207.0					17																	36926743		2203	4300	6503	SO:0001819	synonymous_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36926743C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.1116G>A	17.37:g.36926743C>T							p.T372T	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			9	1596	-			372			PIPK.		Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.1116G>A	CCDS11329.1																																																																																				0.547	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		57	660	0	0	0	1	0	57	660				
TRAPPC10	7109	broad.mit.edu	37	21	45507691	45507691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45507691C>T	ENST00000291574.4	+	17	2826	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	884					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAGTTCTCTCTTTACCTTCA	0.577																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2650-2652)tCt>tTt		trafficking protein particle complex 10							107.0	92.0	97.0					21																	45507691		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45507691C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2651C>T	21.37:g.45507691C>T	ENSP00000291574:p.Ser884Phe						p.S884F	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			17	2826	+			884					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.2651C>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491547	0.44249	.	.	ENSG00000160218	ENST00000291574	T	0.23552	1.9	4.9	3.95	0.45737	.	0.114895	0.64402	D	0.000015	T	0.13030	0.0316	N	0.14661	0.345	0.39632	D	0.970182	B	0.25955	0.138	B	0.17979	0.02	T	0.08513	-1.0718	10	0.40728	T	0.16	.	7.5482	0.27778	0.2916:0.5759:0.1325:0.0	.	884	P48553	TPC10_HUMAN	F	884	ENSP00000291574:S884F	ENSP00000291574:S884F	S	+	2	0	TRAPPC10	44332119	1.000000	0.71417	0.903000	0.35520	0.980000	0.70556	3.821000	0.55700	2.267000	0.75376	0.563000	0.77884	TCT		0.577	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		74	272	0	0	0	1	0	74	272				
BCL2L15	440603	broad.mit.edu	37	1	114429225	114429225	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114429225A>G	ENST00000393316.3	-	2	354	c.183T>C	c.(181-183)ggT>ggC	p.G61G	BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Silent_p.G61G|AP4B1-AS1_ENST00000419536.1_RNA	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	61					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAACTGGTCACCCAACATCC	0.448																																						ENST00000393316.3																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9						c.(181-183)ggT>ggC		BCL2-like 15							122.0	106.0	111.0					1																	114429225		2203	4300	6503	SO:0001819	synonymous_variant	440603				apoptosis			g.chr1:114429225A>G		CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 178"""	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.183T>C	1.37:g.114429225A>G						BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000471267.1_Silent_p.G61G|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron	p.G61G	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	354	-	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)	61					A0PJY6|A8K074|I6LA82	Silent	SNP	ENST00000393316.3	37	c.183T>C	CCDS30809.1																																																																																				0.448	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922		41	192	0	0	0	1	0	41	192				
HRC	3270	broad.mit.edu	37	19	49657295	49657295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49657295C>T	ENST00000252825.4	-	1	1386	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	HRC_ENST00000595625.1_Silent_p.K400K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	400					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCATCACTCTTGTGGCCTC	0.517																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1198-1200)aaG>aaA		histidine rich calcium binding protein							118.0	110.0	113.0					19																	49657295		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657295C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1200G>A	19.37:g.49657295C>T						HRC_ENST00000595625.1_Silent_p.K400K	p.K400K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1386	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	400					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1200G>A	CCDS12759.1																																																																																				0.517	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		93	453	0	0	0	1	0	93	453				
NEO1	4756	broad.mit.edu	37	15	73541462	73541462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73541462T>C	ENST00000339362.5	+	11	2115	c.1668T>C	c.(1666-1668)acT>acC	p.T556T	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Silent_p.T556T|NEO1_ENST00000261908.6_Silent_p.T556T|NEO1_ENST00000558964.1_Silent_p.T556T			Q92859	NEO1_HUMAN	neogenin 1	556	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCTCCATCACTGTTACGTGGG	0.428																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1666-1668)acT>acC		neogenin 1							116.0	112.0	113.0					15																	73541462		2198	4297	6495	SO:0001819	synonymous_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73541462T>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1668T>C	15.37:g.73541462T>C						NEO1_ENST00000261908.6_Silent_p.T556T|NEO1_ENST00000558964.1_Silent_p.T556T|NEO1_ENST00000560262.1_Silent_p.T556T|NEO1_ENST00000560352.1_3'UTR	p.T556T			Q92859	NEO1_HUMAN			11	2115	+			556			Fibronectin type-III 2.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	c.1668T>C	CCDS10247.1																																																																																				0.428	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		12	538	0	0	0	1	0	12	538				
RPL31P11	641311	broad.mit.edu	37	1	161654817	161654817	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161654817C>T	ENST00000426558.1	-	0	225					NR_002595.1				ribosomal protein L31 pseudogene 11																		TCAATGCGCGCATCTGGAGTT	0.507																																						ENST00000426558.1																			0																																																			0							g.chr1:161654817C>T			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654817C>T								NR_002595.1						0	225	-									RNA	SNP	ENST00000426558.1	37																																																																																						0.507	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		32	139	0	0	0	1	0	32	139				
CECR2	27443	broad.mit.edu	37	22	18022171	18022171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022171C>A	ENST00000400585.2	+	16	2288	c.1850C>A	c.(1849-1851)gCt>gAt	p.A617D	CECR2_ENST00000400573.5_Missense_Mutation_p.A758D|CECR2_ENST00000262608.8_Missense_Mutation_p.A759D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	800					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACCATGGTGCTACGAACCAA	0.557																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2275-2277)gCt>gAt		cat eye syndrome chromosome region, candidate 2							41.0	46.0	44.0					22																	18022171		1965	4144	6109	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022171C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1850C>A	22.37:g.18022171C>A	ENSP00000383428:p.Ala617Asp					CECR2_ENST00000400585.2_Missense_Mutation_p.A617D|CECR2_ENST00000400573.4_Missense_Mutation_p.A758D	p.A759D	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2276	+		all_epithelial(15;0.139)	800					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2276C>A		.	.	.	.	.	.	.	.	.	.	C	16.00	2.997072	0.54147	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.27720	1.77;1.76;1.65	5.29	4.25	0.50352	.	0.627641	0.14414	N	0.321059	T	0.33294	0.0858	L	0.56769	1.78	0.33771	D	0.622995	P;P;P	0.42409	0.779;0.664;0.664	B;B;B	0.39299	0.296;0.296;0.296	T	0.52442	-0.8575	10	0.52906	T	0.07	-8.8794	14.2317	0.65898	0.0:0.851:0.149:0.0	.	800;617;758	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	D	617;758;759	ENSP00000383428:A617D;ENSP00000383417:A758D;ENSP00000262608:A759D	ENSP00000262608:A759D	A	+	2	0	CECR2	16402171	0.217000	0.23597	0.992000	0.48379	0.859000	0.49053	0.696000	0.25541	1.428000	0.47296	0.561000	0.74099	GCT		0.557	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		32	209	1	0	2.61193e-14	1	2.83483e-14	32	209				
MOCS1	4337	broad.mit.edu	37	6	39877623	39877623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39877623C>A	ENST00000340692.5	-	9	1061	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000373186.4_Missense_Mutation_p.R353I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	353	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAATGATTCTCAGCAGCTC	0.602																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1057-1059)aGa>aTa		molybdenum cofactor synthesis 1							114.0	102.0	106.0					6																	39877623		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39877623C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1058G>T	6.37:g.39877623C>A	ENSP00000344794:p.Arg353Ile					MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000340692.5_Missense_Mutation_p.R353I	p.R353I	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			8	1195	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		353			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.1058G>T		.	.	.	.	.	.	.	.	.	.	C	9.397	1.076926	0.20227	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	4.98	0.952	0.19584	Molybdenum cofactor synthesis C-terminal (1);	0.618843	0.16706	N	0.202889	T	0.77558	0.4148	M	0.79011	2.435	0.25476	N	0.987787	B;B;P;B;B	0.34909	0.419;0.087;0.475;0.419;0.178	B;B;B;B;B	0.36335	0.142;0.098;0.222;0.142;0.142	T	0.68891	-0.5289	9	.	.	.	1.1866	4.5072	0.11894	0.0:0.3477:0.2942:0.3581	.	353;353;353;353;353	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	I	353;353;324;353;266;353;353;324	ENSP00000362282:R353I;ENSP00000309843:R353I;ENSP00000362270:R324I;ENSP00000362284:R353I;ENSP00000362291:R266I;ENSP00000344794:R353I;ENSP00000416478:R353I;ENSP00000410809:R324I	.	R	-	2	0	MOCS1	39985601	0.051000	0.20477	0.016000	0.15963	0.442000	0.32017	0.454000	0.21827	-0.129000	0.11620	0.557000	0.71058	AGA		0.602	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		130	516	1	0	2.10578e-59	1	2.64425e-59	130	516				
B3GNT7	93010	broad.mit.edu	37	2	232263043	232263043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232263043C>T	ENST00000287590.5	+	2	874	c.613C>T	c.(613-615)Cag>Tag	p.Q205*		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	205					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGACATCCTGCAGTGGGGCTT	0.602																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(613-615)Cag>Tag		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							84.0	94.0	91.0					2																	232263043		2138	4241	6379	SO:0001587	stop_gained	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263043C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.613C>T	2.37:g.232263043C>T	ENSP00000287590:p.Gln205*						p.Q205*	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	874	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	205					B3KWY4|B7WNP0	Nonsense_Mutation	SNP	ENST00000287590.5	37	c.613C>T	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	38	6.822400	0.97865	.	.	ENSG00000156966	ENST00000287590	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	17.7321	0.88380	0.0:1.0:0.0:0.0	.	.	.	.	X	205	.	ENSP00000287590:Q205X	Q	+	1	0	B3GNT7	231971287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.431000	0.82371	0.655000	0.94253	CAG		0.602	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		183	457	0	0	0	1	0	183	457				
C1orf94	84970	broad.mit.edu	37	1	34663476	34663476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34663476C>T	ENST00000488417.1	+	2	1091	c.971C>T	c.(970-972)cCc>cTc	p.P324L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	324										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTTCCAAGCCCAAGGCTGAC	0.617																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(970-972)cCc>cTc		chromosome 1 open reading frame 94							48.0	45.0	46.0					1																	34663476		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663476C>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.971C>T	1.37:g.34663476C>T	ENSP00000435634:p.Pro324Leu					C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	p.P324L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			2	1091	+		Myeloproliferative disorder(586;0.0393)	134					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.971C>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362091	0.41902	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.28454	1.61;1.61	4.78	4.78	0.61160	.	0.347910	0.24947	N	0.034333	T	0.31231	0.0790	L	0.52573	1.65	0.40830	D	0.983584	P	0.36909	0.573	B	0.37780	0.258	T	0.20874	-1.0262	10	0.59425	D	0.04	-9.4525	13.2926	0.60278	0.0:1.0:0.0:0.0	.	324	Q6P1W5	CA094_HUMAN	L	134;324	ENSP00000362472:P134L;ENSP00000435634:P324L	ENSP00000362472:P134L	P	+	2	0	C1orf94	34436063	0.037000	0.19845	0.941000	0.38009	0.684000	0.39900	1.286000	0.33273	2.194000	0.70268	0.557000	0.71058	CCC		0.617	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		16	182	0	0	0	1	0	16	182				
KCNH6	81033	broad.mit.edu	37	17	61611263	61611263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61611263C>T	ENST00000583023.1	+	5	703	c.692C>T	c.(691-693)gCg>gTg	p.A231V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	231					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCCCTGGGCGCGGATGTGCTG	0.687																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(691-693)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						55.0	53.0	53.0					17																	61611263		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611263C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.692C>T	17.37:g.61611263C>T	ENSP00000463533:p.Ala231Val					KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V	p.A231V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			5	703	+			231					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.692C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267669	0.23136	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99060	-5.38;-5.38	3.9	3.9	0.45041	.	0.062977	0.64402	D	0.000007	D	0.99089	0.9687	M	0.76727	2.345	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.868;0.997;0.967	D;D;B;P;P	0.68765	0.96;0.946;0.355;0.886;0.783	D	0.99305	1.0902	10	0.87932	D	0	.	16.4191	0.83752	0.0:1.0:0.0:0.0	.	108;231;231;231;231	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	231	ENSP00000318212:A231V;ENSP00000396900:A231V	ENSP00000318212:A231V	A	+	2	0	KCNH6	58964995	1.000000	0.71417	0.442000	0.26870	0.033000	0.12548	7.601000	0.82783	2.158000	0.67659	0.313000	0.20887	GCG		0.687	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		81	354	0	0	0	1	0	81	354				
CELSR3	1951	broad.mit.edu	37	3	48699383	48699383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48699383C>A	ENST00000164024.4	-	1	965	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.A229S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	229					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGGGGGGCTGTCCTTTCT	0.652																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(685-687)Gcc>Tcc		cadherin, EGF LAG seven-pass G-type receptor 3							57.0	63.0	61.0					3																	48699383		2202	4299	6501	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699383C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.685G>T	3.37:g.48699383C>A	ENSP00000164024:p.Ala229Ser					CELSR3_ENST00000164024.4_Missense_Mutation_p.A229S	p.A229S			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	965	-			229					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.685G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339064	0.01287	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69806	-0.43;-0.43	4.06	-1.23	0.09465	.	.	.	.	.	T	0.37210	0.0995	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.16722	0.01;0.016	T	0.17623	-1.0363	9	0.18710	T	0.47	.	2.846	0.05543	0.1907:0.5242:0.1239:0.1611	.	229;299	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	229	ENSP00000164024:A229S;ENSP00000445694:A229S	ENSP00000164024:A229S	A	-	1	0	CELSR3	48674387	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.520000	0.06252	-0.245000	0.09625	0.609000	0.83330	GCC		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		25	697	1	0	2.50493e-22	1	2.83324e-22	25	697				
GPATCH8	23131	broad.mit.edu	37	17	42476826	42476826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42476826G>A	ENST00000591680.1	-	8	2649	c.2619C>T	c.(2617-2619)agC>agT	p.S873S	GPATCH8_ENST00000434000.1_Silent_p.S795S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	873	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGCATCTGAGCTACTTGAGT	0.542																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2383-2385)agC>agT		G patch domain containing 8							128.0	114.0	119.0					17																	42476826		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476826G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2619C>T	17.37:g.42476826G>A						GPATCH8_ENST00000591680.1_Silent_p.S873S	p.S795S			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2667	-		Prostate(33;0.0181)	873					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.2385C>T	CCDS32666.1																																																																																				0.542	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		116	532	0	0	0	1	0	116	532				
ADAM17	6868	broad.mit.edu	37	2	9676016	9676016	+	Missense_Mutation	SNP	C	C	T	rs199524645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9676016C>T	ENST00000310823.3	-	4	579	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ADAM17_ENST00000497134.1_Missense_Mutation_p.D133N	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	133					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACATCATCATCTCTTATGTGG	0.299																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(397-399)Gat>Aat		ADAM metallopeptidase domain 17							59.0	60.0	59.0					2																	9676016		2202	4298	6500	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9676016C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.397G>A	2.37:g.9676016C>T	ENSP00000309968:p.Asp133Asn					ADAM17_ENST00000497134.1_Missense_Mutation_p.D133N	p.D133N	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	4	579	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		133					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.397G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684898	0.88639	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.67698	1.92;-0.28	5.33	5.33	0.75918	Peptidase M12B, propeptide (1);	0.226724	0.43260	D	0.000593	T	0.79822	0.4512	L	0.54908	1.71	0.58432	D	0.999997	D;P;D;P	0.89917	1.0;0.605;1.0;0.605	D;B;D;B	0.97110	1.0;0.264;1.0;0.264	T	0.80214	-0.1475	10	0.59425	D	0.04	.	19.3847	0.94551	0.0:1.0:0.0:0.0	.	133;133;133;133	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	N	133	ENSP00000309968:D133N;ENSP00000418728:D133N	ENSP00000309968:D133N	D	-	1	0	ADAM17	9593467	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.452000	0.52971	2.642000	0.89623	0.557000	0.71058	GAT		0.299	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			14	196	0	0	0	1	0	14	196				
COL13A1	1305	broad.mit.edu	37	10	71634908	71634908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71634908C>T	ENST00000398978.3	+	5	916	c.424C>T	c.(424-426)Cct>Tct	p.P142S	COL13A1_ENST00000398973.3_Missense_Mutation_p.P142S|COL13A1_ENST00000517713.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398966.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000398971.3_Missense_Mutation_p.P142S|COL13A1_ENST00000356340.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.P142S|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000522165.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398968.3_Missense_Mutation_p.P142S|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398972.3_Missense_Mutation_p.P142S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P142S	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CATTGGGATGCCTGGACGTGT	0.537																																						ENST00000356340.3																			0				endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(424-426)Cct>Tct		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						209.0	223.0	218.0					10																	71634908		2174	4269	6443	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71634908C>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.424C>T	10.37:g.71634908C>T	ENSP00000381949:p.Pro142Ser					COL13A1_ENST00000398973.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.P142S|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398968.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000517713.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398978.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398971.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000354547.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398972.3_Missense_Mutation_p.P142S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398966.3_Missense_Mutation_p.P142S	p.P142S			Q5TAT6	CODA1_HUMAN			4	960	+			142			Triple-helical region 1 (COL1).			Missense_Mutation	SNP	ENST00000398978.3	37	c.424C>T	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185542	0.57909	.	.	ENSG00000197467	ENST00000398971;ENST00000398968;ENST00000398966;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000517713;ENST00000522165	D;D;D;D;D;D;D;D;D;D;D	0.93488	-3.06;-3.1;-3.16;-3.14;-3.1;-3.22;-3.18;-3.17;-3.19;-3.11;-3.23	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000021	D	0.95258	0.8462	L	0.51914	1.62	0.40217	D	0.977692	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.993;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.994;0.994;0.998;0.979;0.994;0.994;0.994;0.994;0.998;0.998;0.998;0.998;0.998	D	0.95235	0.8346	10	0.51188	T	0.08	-2.9903	14.7298	0.69372	0.0:1.0:0.0:0.0	.	142;142;142;142;142;142;142;142;142;142;142;142;142	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES49;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.	S	142	ENSP00000381943:P142S;ENSP00000381940:P142S;ENSP00000381938:P142S;ENSP00000348695:P142S;ENSP00000381944:P142S;ENSP00000381945:P142S;ENSP00000381949:P142S;ENSP00000346553:P142S;ENSP00000350463:P142S;ENSP00000430061:P142S;ENSP00000428342:P142S	ENSP00000346553:P142S	P	+	1	0	COL13A1	71304914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.931000	0.56529	2.553000	0.86117	0.561000	0.74099	CCT		0.537	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		7	234	0	0	0	1	0	7	234				
JPH2	57158	broad.mit.edu	37	20	42788611	42788611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42788611G>A	ENST00000372980.3	-	2	1688	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	272					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCGTCGGCGCCCTCGGCGG	0.687																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(814-816)ggC>ggT		junctophilin 2							22.0	22.0	22.0					20																	42788611		2199	4297	6496	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788611G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.816C>T	20.37:g.42788611G>A							p.G272G	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1688	-		Myeloproliferative disorder(115;0.0122)	272					E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.816C>T	CCDS13325.1																																																																																				0.687	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			16	75	0	0	0	1	0	16	75				
SH3TC1	54436	broad.mit.edu	37	4	8242552	8242552	+	Missense_Mutation	SNP	G	G	A	rs143876832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8242552G>A	ENST00000245105.3	+	18	3948	c.3881G>A	c.(3880-3882)cGt>cAt	p.R1294H	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R1218H	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1294										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCCTGGACCGTGAGAAGTCG	0.627													G|||	6	0.00119808	0.0	0.0	5008	,	,		13259	0.004		0.0	False		,,,				2504	0.002				NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3652-3654)cGt>cAt		SH3 domain and tetratricopeptide repeats 1		G	HIS/ARG	0,4406		0,0,2203	81.0	83.0	82.0		3881	4.2	1.0	4	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SH3TC1	NM_018986.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1294/1337	8242552	2,13004	2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8242552G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3881G>A	4.37:g.8242552G>A	ENSP00000245105:p.Arg1294His					SH3TC1_ENST00000245105.3_Missense_Mutation_p.R1294H	p.R1218H			Q8TE82	S3TC1_HUMAN			18	4027	+			1294					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.3653G>A	CCDS3399.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.9	4.782714	0.90282	0.0	2.33E-4	ENSG00000125089	ENST00000245105;ENST00000539824	T;T	0.75704	-0.96;-0.96	4.18	4.18	0.49190	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	D	0.83440	0.5255	M	0.72479	2.2	0.54753	D	0.999983	D	0.76494	0.999	P	0.61940	0.896	D	0.84599	0.0671	9	.	.	.	-18.7093	16.7497	0.85482	0.0:0.0:1.0:0.0	.	1294	Q8TE82	S3TC1_HUMAN	H	1294;1218	ENSP00000245105:R1294H;ENSP00000441045:R1218H	.	R	+	2	0	SH3TC1	8293452	1.000000	0.71417	0.964000	0.40570	0.701000	0.40568	5.793000	0.69060	2.194000	0.70268	0.543000	0.68304	CGT		0.627	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		8	480	0	0	0	1	0	8	480				
TEX15	56154	broad.mit.edu	37	8	30701930	30701930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30701930G>A	ENST00000256246.2	-	1	4678	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1535					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTTAAGCGGATTAGAAAC	0.353																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4603-4605)cCg>cTg		testis expressed 15							179.0	184.0	182.0					8																	30701930		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701930G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4604C>T	8.37:g.30701930G>A	ENSP00000256246:p.Pro1535Leu						p.P1535L	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4678	-			1535						Missense_Mutation	SNP	ENST00000256246.2	37	c.4604C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	5.831	0.337538	0.11013	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.77	-1.07	0.09968	.	1.103820	0.06875	N	0.801452	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.41858	-0.9485	10	0.87932	D	0	.	1.8159	0.03100	0.123:0.1577:0.349:0.3703	.	1535	Q9BXT5	TEX15_HUMAN	L	1535	ENSP00000256246:P1535L	ENSP00000256246:P1535L	P	-	2	0	TEX15	30821472	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.141000	0.10327	-0.405000	0.07599	-1.085000	0.02201	CCG		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			187	892	0	0	0	1	0	187	892				
ROBO1	6091	broad.mit.edu	37	3	78719257	78719257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78719257G>A	ENST00000464233.1	-	11	1650	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R474*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	513	Ig-like C2-type 5.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTAGCATATCGGATCTGCAGT	0.443																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1420-1422)Cga>Tga		roundabout, axon guidance receptor, homolog 1 (Drosophila)							92.0	93.0	92.0					3																	78719257		1968	4154	6122	SO:0001587	stop_gained	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78719257G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1537C>T	3.37:g.78719257G>A	ENSP00000420321:p.Arg513*					ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.R513*	p.R474*			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	9	2417	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	513			Ig-like C2-type 5.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	c.1420C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	37	6.388750	0.97529	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	.	.	.	5.78	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0177	0.71600	0.0:0.0:0.7413:0.2587	.	.	.	.	X	474;477;513;477;477;513;46	.	.	R	-	1	2	ROBO1	78801947	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	3.100000	0.50275	1.405000	0.46838	0.591000	0.81541	CGA		0.443	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		10	89	0	0	0	1	0	10	89				
ZNF713	349075	broad.mit.edu	37	7	56007425	56007425	+	Missense_Mutation	SNP	G	G	A	rs143509812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56007425G>A	ENST00000429591.2	+	4	1057	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTTTAGCCGCATCACATCC	0.428																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1018-1020)cGc>cAc		zinc finger protein 713		G	HIS/ARG	0,4406		0,0,2203	87.0	93.0	91.0		1019	2.4	0.9	7	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF713	NM_182633.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	340/431	56007425	1,13005	2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007425G>A	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1019G>A	7.37:g.56007425G>A	ENSP00000416662:p.Arg340His					MRPS17_ENST00000426595.1_Intron	p.R340H	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	1057	+	Breast(14;0.214)		340						Missense_Mutation	SNP	ENST00000429591.2	37	c.1019G>A	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	2.059	-0.415832	0.04766	0.0	1.16E-4	ENSG00000178665	ENST00000429591	T	0.17854	2.25	3.26	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.395973	0.18739	N	0.132504	T	0.07413	0.0187	L	0.28776	0.89	0.09310	N	1	P	0.37158	0.585	B	0.18561	0.022	T	0.27468	-1.0073	10	0.19590	T	0.45	.	4.7219	0.12922	0.1222:0.2273:0.6505:0.0	.	340	Q8N859	ZN713_HUMAN	H	340	ENSP00000416662:R340H	ENSP00000416662:R340H	R	+	2	0	ZNF713	55974919	0.000000	0.05858	0.886000	0.34754	0.383000	0.30230	-0.488000	0.06497	0.930000	0.37217	0.467000	0.42956	CGC		0.428	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		19	564	0	0	0	1	0	19	564				
ELAVL4	1996	broad.mit.edu	37	1	50663102	50663102	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50663102C>A	ENST00000371823.4	+	6	960	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELAVL4_ENST00000371819.1_Splice_Site_p.L251M|ELAVL4_ENST00000371827.1_Splice_Site_p.L246M|ELAVL4_ENST00000371824.1_Splice_Site_p.L246M|ELAVL4_ENST00000371821.1_Splice_Site_p.L251M|ELAVL4_ENST00000448907.2_Splice_Site_p.L249M|ELAVL4_ENST00000357083.4_Splice_Site_p.L263M	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	246					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTTTGCAGGCTGGACAATTT	0.418																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.e6-1		ELAV like neuron-specific RNA binding protein 4							148.0	152.0	151.0					1																	50663102		2203	4300	6503	SO:0001630	splice_region_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50663102C>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.735-1C>A	1.37:g.50663102C>A						ELAVL4_ENST00000371821.1_Splice_Site_p.L251_splice|ELAVL4_ENST00000371823.4_Splice_Site_p.L246_splice|ELAVL4_ENST00000371819.1_Splice_Site_p.L251_splice|ELAVL4_ENST00000448907.2_Splice_Site_p.L249_splice|ELAVL4_ENST00000357083.4_Splice_Site_p.L263_splice|ELAVL4_ENST00000371827.1_Splice_Site_p.L246_splice	p.L246_splice			P26378	ELAV4_HUMAN			6	993	+			246					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Splice_Site	SNP	ENST00000371823.4	37	c.734_splice	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056865	0.76074	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.09630	3.01;3.0;2.98;2.99;2.99;2.96;2.99	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.23094	0.0558	L	0.47716	1.5	0.80722	D	1	P;D;P;P;P;P;P	0.54397	0.748;0.966;0.824;0.836;0.905;0.837;0.748	B;P;P;B;P;P;B	0.55999	0.326;0.702;0.789;0.326;0.693;0.525;0.326	T	0.00053	-1.2186	10	0.31617	T	0.26	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	251;251;246;246;263;246;249	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	M	249;246;263;246;246;251;251	ENSP00000399939:L249M;ENSP00000360892:L246M;ENSP00000349594:L263M;ENSP00000360889:L246M;ENSP00000360888:L246M;ENSP00000360886:L251M;ENSP00000360884:L251M	ENSP00000349594:L263M	L	+	1	2	ELAVL4	50435689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.941000	0.99782	0.655000	0.94253	CTG		0.418	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	Missense_Mutation	49	444	1	0	6.31075e-24	1	7.19376e-24	49	444				
PCDHB15	56121	broad.mit.edu	37	5	140627157	140627157	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627157C>A	ENST00000231173.3	+	1	2011	c.2011C>A	c.(2011-2013)Ctg>Atg	p.L671M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	671	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGCCCTACCTGCCGCTCCC	0.667																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2011-2013)Ctg>Atg									53.0	58.0	56.0					5																	140627157		2195	4276	6471	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627157C>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2011C>A	5.37:g.140627157C>A	ENSP00000231173:p.Leu671Met						p.L671M	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2011	+			671			Cadherin 6.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2011C>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058930	0.36277	.	.	ENSG00000113248	ENST00000231173	T	0.52526	0.66	4.58	2.62	0.31277	Cadherin (1);	.	.	.	.	T	0.52885	0.1762	L	0.58583	1.82	0.28329	N	0.921895	D	0.58970	0.984	P	0.55667	0.781	T	0.46345	-0.9198	9	0.59425	D	0.04	.	5.9376	0.19175	0.0:0.6574:0.1841:0.1585	.	671	Q9Y5E8	PCDBF_HUMAN	M	671	ENSP00000231173:L671M	ENSP00000231173:L671M	L	+	1	2	PCDHB15	140607341	0.184000	0.23200	0.998000	0.56505	0.505000	0.33919	-0.072000	0.11486	2.293000	0.77203	0.549000	0.68633	CTG		0.667	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		80	747	1	0	3.33186e-49	1	4.11995e-49	80	747				
PRDM5	11107	broad.mit.edu	37	4	121739544	121739544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121739544C>T	ENST00000264808.3	-	5	854	c.614G>A	c.(613-615)gGg>gAg	p.G205E	PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	205					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATTTCTTCCCACAGTTCTT	0.373																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(613-615)gGg>gAg		PR domain containing 5							93.0	88.0	89.0					4																	121739544		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121739544C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.614G>A	4.37:g.121739544C>T	ENSP00000264808:p.Gly205Glu					PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E	p.G205E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			5	854	-			205					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.614G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876634	0.91664	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.59224	0.28;0.28;0.28	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.39467	1.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.70952	-0.4732	10	0.52906	T	0.07	-30.627	19.0126	0.92879	0.0:1.0:0.0:0.0	.	205;205;205	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	E	205	ENSP00000264808:G205E;ENSP00000422309:G205E;ENSP00000404832:G205E	ENSP00000264808:G205E	G	-	2	0	PRDM5	121958994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.562000	0.60816	2.498000	0.84270	0.555000	0.69702	GGG		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			46	188	0	0	0	1	0	46	188				
RAP1B	5908	broad.mit.edu	37	12	69050899	69050899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69050899C>T	ENST00000250559.9	+	7	718	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	163					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGACCTAGTGCGGCAAATTAA	0.373																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(487-489)Cgg>Tgg		RAP1B, member of RAS oncogene family							104.0	107.0	106.0					12																	69050899		2203	4300	6503	SO:0001583	missense	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69050899C>T		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.487C>T	12.37:g.69050899C>T	ENSP00000250559:p.Arg163Trp					RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W|RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W	p.R163W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	7	718	+	Breast(13;1.24e-05)		163					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	c.487C>T	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666603	0.47677	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000543697	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-1.27;-1.27;-0.65;-0.65;-0.65;-0.65;-0.66	5.58	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.98446	4.235	0.80722	D	1	B;D;B;B	0.60160	0.27;0.987;0.215;0.215	B;P;B;B	0.48571	0.014;0.582;0.085;0.069	D	0.91507	0.5224	9	.	.	.	.	11.7183	0.51666	0.1255:0.8074:0.0:0.0671	.	116;121;144;163	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	W	163;163;163;163;121;112;97;97;144;97;121;116;115	ENSP00000250559:R163W;ENSP00000377085:R163W;ENSP00000441275:R163W;ENSP00000439966:R163W;ENSP00000399986:R121W;ENSP00000444467:R112W;ENSP00000445090:R97W;ENSP00000368270:R97W;ENSP00000446318:R144W;ENSP00000443775:R97W;ENSP00000444830:R121W;ENSP00000440014:R116W;ENSP00000440708:R115W	.	R	+	1	2	RAP1B	67337166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.222000	0.32515	1.507000	0.48752	0.644000	0.83932	CGG		0.373	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		114	460	0	0	0	1	0	114	460				
DDX60L	91351	broad.mit.edu	37	4	169327130	169327130	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327130T>G	ENST00000511577.1	-	24	3431	c.3184A>C	c.(3184-3186)Aat>Cat	p.N1062H	DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H|DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1062							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTAATCCAATTTGTCAATTCT	0.303																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3184-3186)Aat>Cat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							118.0	105.0	109.0					4																	169327130		1837	4120	5957	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169327130T>G	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3184A>C	4.37:g.169327130T>G	ENSP00000422423:p.Asn1062His					DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H|DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H	p.N1062H			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	24	3431	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1062					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.3184A>C		.	.	.	.	.	.	.	.	.	.	T	8.303	0.820426	0.16678	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.18338	2.22;2.22;2.22;2.89	3.83	1.18	0.20946	.	1.533330	0.05234	U	0.510894	T	0.15132	0.0365	L	0.42245	1.32	0.09310	N	1	B;B;B	0.23442	0.085;0.085;0.085	B;B;B	0.22601	0.04;0.027;0.04	T	0.33007	-0.9885	10	0.42905	T	0.14	.	4.1836	0.10387	0.0:0.1978:0.1758:0.6265	.	1062;1062;1062	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	1062;1062;1062;758	ENSP00000260184:N1062H;ENSP00000422423:N1062H;ENSP00000422202:N1062H;ENSP00000421026:N758H	ENSP00000260184:N1062H	N	-	1	0	DDX60L	169563705	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.160000	0.16462	0.343000	0.23821	0.460000	0.39030	AAT		0.303	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		13	48	0	0	0	1	0	13	48				
REV3L	5980	broad.mit.edu	37	6	111709256	111709256	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111709256T>G	ENST00000358835.3	-	9	1349	c.895A>C	c.(895-897)Aaa>Caa	p.K299Q	REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q|REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q|REV3L_ENST00000435970.1_Missense_Mutation_p.K221Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	299					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGAAATTTTTTTTCACTTTCT	0.289								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(661-663)Aaa>Caa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							51.0	55.0	54.0					6																	111709256		2203	4298	6501	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111709256T>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.895A>C	6.37:g.111709256T>G	ENSP00000351697:p.Lys299Gln					REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q|REV3L_ENST00000358835.3_Missense_Mutation_p.K299Q|REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q	p.K221Q			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	10	1477	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	299					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.661A>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660422	0.67586	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.35	5.35	0.76521	Ribonuclease H-like (1);	0.156429	0.45867	D	0.000334	T	0.15955	0.0384	L	0.45581	1.43	0.35880	D	0.828879	P	0.47409	0.895	B	0.39706	0.307	T	0.04041	-1.0982	10	0.29301	T	0.29	.	15.3194	0.74109	0.0:0.0:0.0:1.0	.	299	O60673	DPOLZ_HUMAN	Q	299;299;299;221	ENSP00000357792:K299Q;ENSP00000357795:K299Q;ENSP00000351697:K299Q;ENSP00000402003:K221Q	ENSP00000351697:K299Q	K	-	1	0	REV3L	111815949	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	6.903000	0.75703	2.017000	0.59298	0.482000	0.46254	AAA		0.289	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		46	198	0	0	0	1	0	46	198				
SRFBP1	153443	broad.mit.edu	37	5	121362759	121362759	+	Nonsense_Mutation	SNP	C	C	T	rs562977263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121362759C>T	ENST00000339397.4	+	8	1300	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.R410*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AAGCAGAAGGCGAAAAGAACA	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		15628	0.001		0.0	False		,,,				2504	0.0					ENST00000339397.4																			1	Substitution - Nonsense(1)	p.R410*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(1228-1230)Cga>Tga		serum response factor binding protein 1							47.0	45.0	46.0					5																	121362759		1835	4090	5925	SO:0001587	stop_gained	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121362759C>T	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1228C>T	5.37:g.121362759C>T	ENSP00000341324:p.Arg410*					SRFBP1_ENST00000504881.1_Intron	p.R410*	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	8	1300	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	410						Nonsense_Mutation	SNP	ENST00000339397.4	37	c.1228C>T	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	37	6.268854	0.97426	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	3.98	0.46160	.	0.060687	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7732	10.9237	0.47180	0.1307:0.8022:0.0:0.0671	.	.	.	.	X	410	.	ENSP00000341324:R410X	R	+	1	2	SRFBP1	121390658	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	3.375000	0.52410	0.785000	0.33685	0.655000	0.94253	CGA		0.363	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		39	152	0	0	0	1	0	39	152				
ISCA2	122961	broad.mit.edu	37	14	74961670	74961670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74961670C>T	ENST00000556816.1	+	4	487	c.432C>T	c.(430-432)tgC>tgT	p.C144C	NPC2_ENST00000557510.1_5'Flank|NPC2_ENST00000541064.1_5'Flank|NPC2_ENST00000238633.2_5'Flank|ISCA2_ENST00000298818.8_3'UTR|ISCA2_ENST00000554924.1_3'UTR|NPC2_ENST00000434013.2_5'Flank|NPC2_ENST00000555619.1_5'Flank			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2	144					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		AGCAAGGCTGCTCCTGTGGGT	0.463																																						ENST00000556816.1																			0				lung(1)	1						c.(430-432)tgC>tgT		iron-sulfur cluster assembly 2							119.0	118.0	118.0					14																	74961670		2203	4300	6503	SO:0001819	synonymous_variant	122961				iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity	g.chr14:74961670C>T		CCDS32122.1, CCDS61504.1	14q24.2	2013-08-06	2013-08-06	2007-01-18	ENSG00000165898	ENSG00000165898			19857	protein-coding gene	gene with protein product		615317	"""HesB like domain containing 1"", ""iron-sulfur cluster assembly 2 homolog (S. cerevisiae)"""	HBLD1		22323289	Standard	NM_194279		Approved	ISA2	uc001xpz.3	Q86U28		ENST00000556816.1:c.432C>T	14.37:g.74961670C>T						ISCA2_ENST00000554924.1_3'UTR|ISCA2_ENST00000298818.8_3'UTR	p.C144C			Q86U28	ISCA2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00146)	4	487	+			144					A6NFF1|A8K3W3|G3V291|Q8IYZ0|Q96BB2	Silent	SNP	ENST00000556816.1	37	c.432C>T	CCDS32122.1																																																																																				0.463	ISCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412354.1	NM_194279		68	402	0	0	0	1	0	68	402				
CHRNA1	1134	broad.mit.edu	37	2	175624353	175624353	+	Missense_Mutation	SNP	C	C	T	rs202221890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175624353C>T	ENST00000261007.5	-	2	118	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V18I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	18					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.V18F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GAGCCCAGGACGAGGCCAGCT	0.557																																						ENST00000348749.5																			1	Substitution - Missense(1)	p.V18F(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(52-54)Gtc>Atc		cholinergic receptor, nicotinic, alpha 1 (muscle)							52.0	51.0	51.0					2																	175624353		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175624353C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.52G>A	2.37:g.175624353C>T	ENSP00000261007:p.Val18Ile					CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V18I	p.V18I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			2	129	-			18					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.52G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445994	0.43429	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;D;T;T	0.83163	-1.16;-1.28;-1.69;-1.45;-0.79	5.92	3.12	0.35913	.	0.188846	0.45606	D	0.000347	T	0.72953	0.3525	L	0.33189	0.99	0.32774	N	0.50346	B;B;B	0.13145	0.007;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.002	T	0.74241	-0.3729	10	0.37606	T	0.19	.	11.4068	0.49902	0.0:0.8099:0.0:0.1901	.	18;18;18	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	18	ENSP00000261008:V18I;ENSP00000261007:V18I;ENSP00000387026:V18I;ENSP00000386611:V18I;ENSP00000386684:V18I	ENSP00000261007:V18I	V	-	1	0	CHRNA1	175332599	0.885000	0.30320	0.996000	0.52242	0.981000	0.71138	1.785000	0.38684	1.503000	0.48686	0.467000	0.42956	GTC		0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			81	441	0	0	0	1	0	81	441				
SACS	26278	broad.mit.edu	37	13	23910802	23910802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910802C>A	ENST00000382292.3	-	9	7486	c.7213G>T	c.(7213-7215)Gaa>Taa	p.E2405*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E2405*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2405					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAATAGATTCCAAAACAAGA	0.363																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(7213-7215)Gaa>Taa		spastic ataxia of Charlevoix-Saguenay (sacsin)							39.0	39.0	39.0					13																	23910802		2202	4299	6501	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910802C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7213G>T	13.37:g.23910802C>A	ENSP00000371729:p.Glu2405*					SACS_ENST00000382292.3_Nonsense_Mutation_p.E2405*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*	p.E2405*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7801	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2405					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.7213G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	56	26.674665	0.99969	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.73	5.73	0.89815	.	0.108347	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	.	.	.	X	2405;1655;2405	.	ENSP00000371729:E2405X	E	-	1	0	SACS	22808802	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.599000	0.61076	2.722000	0.93159	0.655000	0.94253	GAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		35	163	1	0	1.22384e-17	1	1.35282e-17	35	163				
CYP2F1	1572	broad.mit.edu	37	19	41633864	41633864	+	Silent	SNP	C	C	T	rs538039196	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGTACCTCACCGCCATCCTGC	0.647													c|||	3	0.000599042	0.0008	0.0	5008	,	,		16694	0.0		0.001	False		,,,				2504	0.001					ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(1351-1353)acC>acT		cytochrome P450, family 2, subfamily F, polypeptide 1							15.0	17.0	16.0					19																	41633864		2198	4286	6484	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41633864C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1353C>T	19.37:g.41633864C>T							p.T451T	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			10	1425	+			451					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1353C>T	CCDS12572.1																																																																																				0.647	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			7	181	0	0	0	1	0	7	181				
FAM169B	283777	broad.mit.edu	37	15	99023964	99023964	+	Missense_Mutation	SNP	C	C	T	rs553386234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99023964C>T	ENST00000558256.1	-	4	298	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	17										large_intestine(3)|lung(3)|urinary_tract(1)	7						AAAATAATGGCGTTTAGAATG	0.383													C|||	5	0.000998403	0.0	0.0	5008	,	,		22898	0.0		0.0	False		,,,				2504	0.0051					ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(49-51)Gcc>Acc		family with sequence similarity 169, member B							86.0	83.0	84.0					15																	99023964		1867	4094	5961	SO:0001583	missense	283777							g.chr15:99023964C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.49G>A	15.37:g.99023964C>T	ENSP00000453554:p.Ala17Thr					FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	p.A17T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			4	298	-			17					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.49G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291580	0.23564	.	.	ENSG00000185087	ENST00000332908	T	0.71817	-0.6	5.27	2.1	0.27182	.	0.694331	0.13929	N	0.353052	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16070	-1.0415	10	0.17369	T	0.5	-6.2819	2.9599	0.05889	0.3016:0.4772:0.1264:0.0949	.	17	Q8N8A8	F169B_HUMAN	T	17	ENSP00000332615:A17T	ENSP00000332615:A17T	A	-	1	0	FAM169B	96841487	0.982000	0.34865	0.113000	0.21522	0.798000	0.45092	1.370000	0.34238	1.180000	0.42898	0.655000	0.94253	GCC		0.383	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		39	210	0	0	0	1	0	39	210				
ADCY9	115	broad.mit.edu	37	16	4029235	4029235	+	Missense_Mutation	SNP	C	C	T	rs142198070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4029235C>T	ENST00000294016.3	-	8	3099	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	854					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCCAGCAGGCGCTTGGTGCA	0.662																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2560-2562)cGc>cAc		adenylate cyclase 9		C	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	60.0	60.0	60.0		2561	2.1	1.0	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	ADCY9	NM_001116.3	29	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	854/1354	4029235	1,12993	2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4029235C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2561G>A	16.37:g.4029235C>T	ENSP00000294016:p.Arg854His						p.R854H	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			8	3099	-			854					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2561G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577186	0.45902	2.28E-4	0.0	ENSG00000162104	ENST00000294016	D	0.83335	-1.71	5.54	2.08	0.27032	.	0.544492	0.20631	N	0.088598	T	0.69700	0.3140	L	0.27053	0.805	0.30493	N	0.771183	B	0.09022	0.002	B	0.04013	0.001	T	0.58446	-0.7635	10	0.13470	T	0.59	.	12.0346	0.53417	0.0:0.7791:0.0:0.2209	.	854	O60503	ADCY9_HUMAN	H	854	ENSP00000294016:R854H	ENSP00000294016:R854H	R	-	2	0	ADCY9	3969236	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.107000	0.15375	0.713000	0.32060	0.655000	0.94253	CGC		0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			73	351	0	0	0	1	0	73	351				
TP63	8626	broad.mit.edu	37	3	189597951	189597951	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189597951G>A	ENST00000264731.3	+	11	1438				TP63_ENST00000437221.1_Missense_Mutation_p.R389Q|TP63_ENST00000440651.2_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.R483Q|TP63_ENST00000392460.3_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000449992.1_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCCCAAACCGATCAGTGTAC	0.453										HNSCC(45;0.13)																												ENST00000418709.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1447-1449)cGa>cAa		tumor protein p63							104.0	96.0	99.0					3																	189597951		1568	3582	5150	SO:0001627	intron_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189597951G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1350-6232G>A	3.37:g.189597951G>A		HNSCC(45;0.13)				TP63_ENST00000449992.1_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.R389Q|TP63_ENST00000392461.3_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000382063.4_Intron	p.R483Q	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1476	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		0					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1448G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183900	0.38609	.	.	ENSG00000073282	ENST00000418709;ENST00000437221	D;D	0.99680	-6.35;-6.38	5.79	2.15	0.27550	.	.	.	.	.	D	0.98074	0.9365	.	.	.	0.80722	D	1	B;B	0.15719	0.014;0.014	B;B	0.17979	0.003;0.02	D	0.97189	0.9856	7	.	.	.	.	6.8668	0.24098	0.2163:0.3309:0.4529:0.0	.	389;483	Q9H3D4-6;Q9H3D4-5	.;.	Q	483;389	ENSP00000407144:R483Q;ENSP00000392488:R389Q	.	R	+	2	0	TP63	191080645	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.536000	0.23129	0.512000	0.28257	0.655000	0.94253	CGA		0.453	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		68	279	0	0	0	1	0	68	279				
MACF1	23499	broad.mit.edu	37	1	39799706	39799706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799706G>A	ENST00000372915.3	+	36	7548	c.7461G>A	c.(7459-7461)caG>caA	p.Q2487Q	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000564288.1_Silent_p.Q2482Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2487					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTTGTGCAGTCCATTGACA	0.413																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(7444-7446)caG>caA		microtubule-actin crosslinking factor 1							148.0	154.0	152.0					1																	39799706		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799706G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7461G>A	1.37:g.39799706G>A						MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000372915.3_Silent_p.Q2487Q|MACF1_ENST00000361689.2_Intron	p.Q2482Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8223	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2487					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.7446G>A																																																																																					0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		140	569	0	0	0	1	0	140	569				
DPP3	10072	broad.mit.edu	37	11	66254053	66254053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254053C>T	ENST00000360510.2	+	4	468	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000532677.1_Nonsense_Mutation_p.Q154*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	135					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGCTGCTCAGCAGCACCCAGA	0.602																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(460-462)Cag>Tag		dipeptidyl-peptidase 3							104.0	101.0	102.0					11																	66254053		2200	4295	6495	SO:0001587	stop_gained	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66254053C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.403C>T	11.37:g.66254053C>T	ENSP00000353701:p.Gln135*					DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000360510.2_Nonsense_Mutation_p.Q135*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*	p.Q154*	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			4	861	+			135					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Nonsense_Mutation	SNP	ENST00000360510.2	37	c.460C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852859	0.32699	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000347422;ENST00000531354	.	.	.	4.91	2.94	0.34122	.	0.331918	0.31963	N	0.006796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	12.0857	0.53695	0.0:0.4526:0.5474:0.0	.	.	.	.	X	155;154;135;135;135;33;105;105;33;33;135;135	.	ENSP00000309957:Q135X	Q	+	1	0	DPP3	66010629	1.000000	0.71417	0.937000	0.37676	0.403000	0.30841	3.073000	0.50057	1.035000	0.39972	0.591000	0.81541	CAG		0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			14	642	0	0	0	1	0	14	642				
AARS2	57505	broad.mit.edu	37	6	44279892	44279892	+	Missense_Mutation	SNP	G	G	T	rs186740566	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44279892G>T	ENST00000244571.4	-	2	354	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACATCTTCCAGGTCGTTATGG	0.517																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(352-354)Ctg>Atg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						180.0	141.0	154.0					6																	44279892		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44279892G>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.352C>A	6.37:g.44279892G>T	ENSP00000244571:p.Leu118Met						p.L118M	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	354	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		118						Missense_Mutation	SNP	ENST00000244571.4	37	c.352C>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630469	0.67015	.	.	ENSG00000124608	ENST00000244571	D	0.87966	-2.32	4.9	3.07	0.35406	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.64402	D	0.000003	D	0.93625	0.7964	H	0.95365	3.66	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.94091	0.7353	10	0.87932	D	0	-13.8404	10.0341	0.42118	0.2216:0.0:0.7784:0.0	.	118	Q5JTZ9	SYAM_HUMAN	M	118	ENSP00000244571:L118M	ENSP00000244571:L118M	L	-	1	2	AARS2	44387870	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.275000	0.43399	1.279000	0.44446	0.436000	0.28706	CTG		0.517	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		114	539	1	0	1.76152e-51	1	2.18623e-51	114	539				
RP11-478B9.1	0	broad.mit.edu	37	12	45459075	45459075	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45459075C>T	ENST00000548424.1	+	0	448																											CCTTGAGAATCTCCGCCCCGC	0.478																																						ENST00000548424.1																			0																																																			0							g.chr12:45459075C>T																													12.37:g.45459075C>T														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.478	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			28	183	0	0	0	1	0	28	183				
ACVR2A	92	broad.mit.edu	37	2	148680620	148680620	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148680620G>A	ENST00000241416.7	+	9	1792	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N|ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTTGAGGATAGATATGTATGC	0.398																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1156-1158)Gat>Aat		activin A receptor, type IIA							183.0	189.0	187.0					2																	148680620		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148680620G>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1156G>A	2.37:g.148680620G>A	ENSP00000241416:p.Asp386Asn					ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N|ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N	p.D386N	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	9	1792	+			386			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1156G>A	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804209	0.96967	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.99394	-5.82;-5.82;-5.82	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97380	0.9982	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	386	P27037	AVR2A_HUMAN	N	386;278;386	ENSP00000241416:D386N;ENSP00000439988:D278N;ENSP00000384338:D386N	ENSP00000241416:D386N	D	+	1	0	ACVR2A	148397090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.629000	0.98417	2.941000	0.99782	0.655000	0.94253	GAT		0.398	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		33	969	0	0	0	1	0	33	969				
BSX	390259	broad.mit.edu	37	11	122848527	122848527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848527C>A	ENST00000343035.2	-	3	580	c.532G>T	c.(532-534)Gca>Tca	p.A178S		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	178					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCGTCTGGTGCTTTGGGTTCG	0.602																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(532-534)Gca>Tca		brain-specific homeobox							58.0	60.0	59.0					11																	122848527		1889	4117	6006	SO:0001583	missense	390259							g.chr11:122848527C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.532G>T	11.37:g.122848527C>A	ENSP00000344285:p.Ala178Ser						p.A178S	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	580	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	178						Missense_Mutation	SNP	ENST00000343035.2	37	c.532G>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385453	0.25031	.	.	ENSG00000188909	ENST00000343035	D	0.92805	-3.11	5.4	5.4	0.78164	Homeodomain-like (1);	0.297348	0.35739	N	0.003004	T	0.81588	0.4854	N	0.14661	0.345	0.26143	N	0.980247	B	0.09022	0.002	B	0.09377	0.004	T	0.63585	-0.6604	10	0.07482	T	0.82	.	9.9018	0.41353	0.0:0.8441:0.0:0.1559	.	178	Q3C1V8	BSH_HUMAN	S	178	ENSP00000344285:A178S	ENSP00000344285:A178S	A	-	1	0	BSX	122353737	0.693000	0.27728	0.989000	0.46669	0.367000	0.29736	1.139000	0.31504	2.516000	0.84829	0.561000	0.74099	GCA		0.602	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		62	211	1	0	2.69953e-25	1	3.09604e-25	62	211				
LRRIQ1	84125	broad.mit.edu	37	12	85531680	85531680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85531680C>A	ENST00000393217.2	+	19	4323	c.4262C>A	c.(4261-4263)gCt>gAt	p.A1421D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1421	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCTCTAGAGGCTATTAAGAAT	0.308																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4261-4263)gCt>gAt		leucine-rich repeats and IQ motif containing 1							117.0	109.0	112.0					12																	85531680		1795	4073	5868	SO:0001583	missense	84125							g.chr12:85531680C>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4262C>A	12.37:g.85531680C>A	ENSP00000376910:p.Ala1421Asp						p.A1421D	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	19	4323	+			1421			IQ 3.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4262C>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784353	0.70222	.	.	ENSG00000133640	ENST00000393217	T	0.55760	0.5	5.56	4.66	0.58398	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.36221	D	0.851972	D	0.53312	0.959	B	0.43623	0.425	T	0.49437	-0.8940	9	0.42905	T	0.14	.	10.6427	0.45602	0.1322:0.7979:0.0:0.0699	.	1421	Q96JM4	LRIQ1_HUMAN	D	1421	ENSP00000376910:A1421D	ENSP00000376910:A1421D	A	+	2	0	LRRIQ1	84055811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.311000	0.59147	1.333000	0.45449	0.650000	0.86243	GCT		0.308	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		86	376	1	0	2.56433e-40	1	3.10845e-40	86	376				
SLC45A4	57210	broad.mit.edu	37	8	142228381	142228381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228381C>T	ENST00000024061.3	-	4	1512	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	SLC45A4_ENST00000519067.1_Missense_Mutation_p.R402H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTCATGCTGCGCGACGGCTT	0.677																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1204-1206)cGc>cAc		solute carrier family 45, member 4							46.0	44.0	45.0					8																	142228381		2203	4299	6502	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228381C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1205G>A	8.37:g.142228381C>T	ENSP00000024061:p.Arg402His					SLC45A4_ENST00000024061.3_Missense_Mutation_p.R402H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H	p.R402H			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1508	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		453					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1205G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103015	0.94245	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	M	0.68593	2.085	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.971;0.984;0.976	D	0.94106	0.7366	10	0.33940	T	0.23	-47.8602	19.116	0.93340	0.0:1.0:0.0:0.0	.	453;402;402	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	H	402;453;395;402	ENSP00000429059:R402H;ENSP00000428137:R453H;ENSP00000400799:R395H;ENSP00000024061:R402H	ENSP00000024061:R402H	R	-	2	0	SLC45A4	142297563	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	4.317000	0.59184	2.535000	0.85469	0.561000	0.74099	CGC		0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		13	319	0	0	0	1	0	13	319				
ASNS	440	broad.mit.edu	37	7	97486013	97486013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97486013C>T	ENST00000394309.3	-	8	1490	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	ASNS_ENST00000455086.1_Missense_Mutation_p.R257H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000175506.4_Missense_Mutation_p.R340H|ASNS_ENST00000437628.1_Missense_Mutation_p.R257H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	340	Asparagine synthetase.			TYDITTVRASV -> LMTLQQFVLRI (in Ref. 9; AAA36781). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TACTGAAGCACGAACTGTTGT	0.303																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(1018-1020)cGt>cAt		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						67.0	66.0	66.0					7																	97486013		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97486013C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1019G>A	7.37:g.97486013C>T	ENSP00000377846:p.Arg340His					ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000394309.3_Missense_Mutation_p.R340H|ASNS_ENST00000455086.1_Missense_Mutation_p.R257H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H|ASNS_ENST00000437628.1_Missense_Mutation_p.R257H	p.R340H	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			9	1547	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		340	TYDITTVRASV -> LMTLQQFVLRI (in Ref. 8; AAA36781).		Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1019G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547255	0.86022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.37	4.37	0.52481	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76699	-0.2863	10	0.87932	D	0	-7.2549	15.2252	0.73345	0.0:1.0:0.0:0.0	.	340	P08243	ASNS_HUMAN	H	340;340;257;340;319;257;319	ENSP00000175506:R340H;ENSP00000377846:R340H;ENSP00000414379:R257H;ENSP00000377845:R340H;ENSP00000414901:R319H;ENSP00000408472:R257H;ENSP00000406994:R319H	ENSP00000175506:R340H	R	-	2	0	ASNS	97323949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.756000	0.74919	2.368000	0.80403	0.555000	0.69702	CGT		0.303	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		71	273	0	0	0	1	0	71	273				
PCNXL4	64430	broad.mit.edu	37	14	60591898	60591898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591898G>A	ENST00000406854.1	+	9	3563	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L	PCNXL4_ENST00000317623.4_Silent_p.L769L|PCNXL4_ENST00000535349.1_Silent_p.L210L|PCNXL4_ENST00000404681.2_Silent_p.L1003L|PCNXL4_ENST00000406949.1_Silent_p.L769L			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1003						integral component of membrane (GO:0016021)											GTGGTGTTTTGCCTTGGTCTG	0.363																																						ENST00000406854.1																			0											c.(3007-3009)ttG>ttA		pecanex-like 4 (Drosophila)							48.0	47.0	47.0					14																	60591898		2203	4300	6503	SO:0001819	synonymous_variant	64430							g.chr14:60591898G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3009G>A	14.37:g.60591898G>A						PCNXL4_ENST00000404681.2_Silent_p.L1003L|PCNXL4_ENST00000317623.4_Silent_p.L769L|PCNXL4_ENST00000535349.1_Silent_p.L210L|PCNXL4_ENST00000406949.1_Silent_p.L769L	p.L1003L							9	3563	+								A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.3009G>A																																																																																					0.363	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		9	73	0	0	0	1	0	9	73				
PCYOX1	51449	broad.mit.edu	37	2	70502729	70502729	+	Missense_Mutation	SNP	G	G	T	rs201051458		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70502729G>T	ENST00000433351.2	+	5	818	c.790G>T	c.(790-792)Gca>Tca	p.A264S	PCYOX1_ENST00000264441.5_Missense_Mutation_p.A264S|PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S|PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	264					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GCTTCTGCAGGCATCCAAAAG	0.438																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(790-792)Gca>Tca		prenylcysteine oxidase 1							127.0	112.0	117.0					2																	70502729		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502729G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.790G>T	2.37:g.70502729G>T	ENSP00000387654:p.Ala264Ser					PCYOX1_ENST00000264441.5_Missense_Mutation_p.A264S|PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S|PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S	p.A264S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			5	818	+			264					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.790G>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506898	0.26949	.	.	ENSG00000116005	ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000545138	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.3	2.28	0.28536	Prenylcysteine lyase (1);	0.195793	0.53938	D	0.000050	T	0.08537	0.0212	L	0.34521	1.04	0.33521	D	0.592328	B;B	0.25667	0.037;0.131	B;B	0.25405	0.06;0.038	T	0.24368	-1.0162	10	0.07644	T	0.81	-9.6889	9.1513	0.36965	0.0775:0.0:0.6513:0.2712	.	246;264	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	S	187;187;264;264;186	ENSP00000441566:A187S;ENSP00000413178:A187S;ENSP00000387654:A264S;ENSP00000264441:A264S;ENSP00000439916:A186S	ENSP00000264441:A264S	A	+	1	0	PCYOX1	70356233	1.000000	0.71417	0.704000	0.30370	0.914000	0.54420	2.088000	0.41663	0.803000	0.34113	0.563000	0.77884	GCA		0.438	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		108	240	1	0	3.0332e-58	1	3.802e-58	108	240				
TRIO	7204	broad.mit.edu	37	5	14485295	14485295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485295C>T	ENST00000344204.4	+	47	6799	c.6775C>T	c.(6775-6777)Cgg>Tgg	p.R2259W	TRIO_ENST00000537187.1_Missense_Mutation_p.R2259W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2259	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCAAGTGTCCGGCAAACTTG	0.403																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6775-6777)Cgg>Tgg		trio Rho guanine nucleotide exchange factor							127.0	121.0	123.0					5																	14485295		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485295C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6775C>T	5.37:g.14485295C>T	ENSP00000339299:p.Arg2259Trp					TRIO_ENST00000537187.1_Missense_Mutation_p.R2259W	p.R2259W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			47	6799	+	Lung NSC(4;0.000742)		2259			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6775C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528213	0.64860	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.12774	2.65;2.65	5.34	4.48	0.54585	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.123877	0.56097	D	0.000035	T	0.32704	0.0838	M	0.72894	2.215	0.49051	D	0.999743	D;D	0.76494	0.999;0.993	D;P	0.74023	0.982;0.548	T	0.04481	-1.0948	10	0.87932	D	0	.	8.9607	0.35845	0.1471:0.7786:0.0:0.0743	.	2259;2259	O75962-5;O75962	.;TRIO_HUMAN	W	2259;2259;1946	ENSP00000339299:R2259W;ENSP00000446348:R2259W	ENSP00000339299:R2259W	R	+	1	2	TRIO	14538295	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	2.479000	0.45197	1.260000	0.44134	-0.142000	0.14014	CGG		0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		88	448	0	0	0	1	0	88	448				
PLXNA1	5361	broad.mit.edu	37	3	126710388	126710388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126710388G>A	ENST00000393409.2	+	2	1356	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	PLXNA1_ENST00000251772.4_Silent_p.T429T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	452	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCGCCGGCACGCGAAGTGGCC	0.672																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1285-1287)acG>acA		plexin A1							35.0	31.0	33.0					3																	126710388		2203	4296	6499	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126710388G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1356G>A	3.37:g.126710388G>A						PLXNA1_ENST00000393409.2_Silent_p.T452T	p.T429T			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	2	1356	+			452			Sema.			Silent	SNP	ENST00000393409.2	37	c.1287G>A	CCDS33847.2																																																																																				0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		100	150	0	0	0	1	0	100	150				
RYR3	6263	broad.mit.edu	37	15	33926918	33926918	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926918A>G	ENST00000389232.4	+	25	3229	c.3159A>G	c.(3157-3159)ccA>ccG	p.P1053P	RYR3_ENST00000415757.3_Silent_p.P1053P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1053	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATTGAGCCATCAGACCAAG	0.458																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3157-3159)ccA>ccG		ryanodine receptor 3							161.0	154.0	157.0					15																	33926918		1917	4134	6051	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33926918A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3159A>G	15.37:g.33926918A>G						RYR3_ENST00000415757.3_Silent_p.P1053P	p.P1053P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	25	3229	+		all_lung(180;7.18e-09)	1053			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.3159A>G	CCDS45210.1																																																																																				0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			38	424	0	0	0	1	0	38	424				
CEP104	9731	broad.mit.edu	37	1	3750492	3750492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3750492G>A	ENST00000378230.3	-	12	1917	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	531						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGAGCAAAACGGGAATGGTCC	0.423																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1591-1593)ccC>ccT		centrosomal protein 104kDa							135.0	129.0	131.0					1																	3750492		2203	4300	6503	SO:0001819	synonymous_variant	9731					centriole	binding	g.chr1:3750492G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1593C>T	1.37:g.3750492G>A						CEP104_ENST00000460038.1_5'UTR	p.P531P	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			12	1917	-			531					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	c.1593C>T	CCDS30571.1																																																																																				0.423	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		63	255	0	0	0	1	0	63	255				
ASUN	55726	broad.mit.edu	37	12	27069065	27069065	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27069065A>G	ENST00000261191.7	-	11	1654	c.1118T>C	c.(1117-1119)aTt>aCt	p.I373T	ASUN_ENST00000539625.1_Missense_Mutation_p.I272T	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	373					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CATATGACTAATGACTTTAGA	0.388																																						ENST00000261191.7																			0											c.(1117-1119)aTt>aCt		asunder spermatogenesis regulator							94.0	81.0	85.0					12																	27069065		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27069065A>G	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1118T>C	12.37:g.27069065A>G	ENSP00000261191:p.Ile373Thr					ASUN_ENST00000539625.1_Missense_Mutation_p.I272T	p.I373T	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			11	1654	-			373					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1118T>C	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104347	0.37145	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625	T;T;T	0.46819	0.86;0.86;0.86	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.31207	0.915	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.45716	-0.9242	10	0.11794	T	0.64	-22.904	16.5479	0.84454	1.0:0.0:0.0:0.0	.	373	Q9NVM9	M89BB_HUMAN	T	77;373;272	ENSP00000445645:I77T;ENSP00000261191:I373T;ENSP00000443724:I272T	ENSP00000261191:I373T	I	-	2	0	C12orf11	26960332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.266000	0.95659	2.371000	0.80710	0.533000	0.62120	ATT		0.388	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		46	164	0	0	0	1	0	46	164				
LLGL1	3996	broad.mit.edu	37	17	18135840	18135840	+	Silent	SNP	C	C	T	rs139741665		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18135840C>T	ENST00000316843.4	+	3	307	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	71					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTTCACAGGCCTGCACCGGGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18640	0.0		0.001	False		,,,				2504	0.0					ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(211-213)Ctg>Ttg		lethal giant larvae homolog 1 (Drosophila)							76.0	64.0	68.0					17																	18135840		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18135840C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.211C>T	17.37:g.18135840C>T							p.L71L	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			3	307	+	all_neural(463;0.228)		71					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.211C>T	CCDS32586.1																																																																																				0.587	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			29	158	0	0	0	1	0	29	158				
PRLHR	2834	broad.mit.edu	37	10	120353797	120353797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120353797G>A	ENST00000369169.1	-	1	959	c.960C>T	c.(958-960)tgC>tgT	p.C320C	PRLHR_ENST00000239032.2_Silent_p.C320C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	320					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGAGCCAGTGGCAGAGCAGCT	0.647																																						ENST00000239032.2																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(958-960)tgC>tgT		prolactin releasing hormone receptor							49.0	48.0	49.0					10																	120353797		2203	4298	6501	SO:0001819	synonymous_variant	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353797G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.960C>T	10.37:g.120353797G>A						PRLHR_ENST00000369169.1_Silent_p.C320C	p.C320C	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	1098	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	320					O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	c.960C>T	CCDS7606.1																																																																																				0.647	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		95	328	0	0	0	1	0	95	328				
DOCK1	1793	broad.mit.edu	37	10	129160443	129160443	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129160443G>A	ENST00000280333.6	+	33	3445	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1112					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATATGATGCAGTGTGAATTCC	0.488																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(3334-3336)caG>caA		dedicator of cytokinesis 1							64.0	63.0	63.0					10																	129160443		2102	4255	6357	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129160443G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3336G>A	10.37:g.129160443G>A							p.Q1112Q	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	33	3445	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1112			DHR-2.		A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.3336G>A																																																																																					0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		26	143	0	0	0	1	0	26	143				
ACTL9	284382	broad.mit.edu	37	19	8808336	8808336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808336G>A	ENST00000324436.3	-	1	836	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	239						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGCAGGCCGGCCTGGAGCAG	0.657																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(715-717)gCc>gTc		actin-like 9							36.0	36.0	36.0					19																	8808336		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808336G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.716C>T	19.37:g.8808336G>A	ENSP00000316674:p.Ala239Val						p.A239V	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	836	-			239					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.716C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110203	0.20714	.	.	ENSG00000181786	ENST00000324436	D	0.94417	-3.42	4.77	4.77	0.60923	.	0.832480	0.09655	U	0.773177	D	0.91123	0.7205	L	0.42744	1.35	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.82476	-0.0438	10	0.87932	D	0	.	7.3774	0.26835	0.1773:0.0:0.8227:0.0	.	239	Q8TC94	ACTL9_HUMAN	V	239	ENSP00000316674:A239V	ENSP00000316674:A239V	A	-	2	0	ACTL9	8669336	0.001000	0.12720	0.029000	0.17559	0.010000	0.07245	1.389000	0.34453	2.649000	0.89929	0.462000	0.41574	GCC		0.657	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		54	229	0	0	0	1	0	54	229				
MYH8	4626	broad.mit.edu	37	17	10304205	10304205	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10304205T>A	ENST00000403437.2	-	26	3420	c.3326A>T	c.(3325-3327)aAg>aTg	p.K1109M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1109					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTGATCTTCTTCTGTAGTTG	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3325-3327)aAg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal							65.0	62.0	63.0					17																	10304205		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304205T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3326A>T	17.37:g.10304205T>A	ENSP00000384330:p.Lys1109Met					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.K1109M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			26	3420	-			1109					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3326A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631872	0.67015	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81659	-1.52	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.43747	U	0.000537	D	0.92593	0.7647	H	0.95712	3.71	0.58432	D	0.999996	D	0.89917	1.0	D	0.76575	0.988	D	0.94676	0.7861	10	0.87932	D	0	.	15.5555	0.76189	0.0:0.0:0.0:1.0	.	1109	P13535	MYH8_HUMAN	M	1109	ENSP00000384330:K1109M	ENSP00000252173:K1109M	K	-	2	0	MYH8	10244930	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.995000	0.70631	2.255000	0.74692	0.533000	0.62120	AAG		0.343	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		13	203	0	0	0	1	0	13	203				
CACNA1C	775	broad.mit.edu	37	12	2795339	2795339	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795339G>A	ENST00000347598.4	+	47	5832	c.5832G>A	c.(5830-5832)agG>agA	p.R1944R	CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000406454.3_Silent_p.R1967R|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C_ENST00000399655.1_Silent_p.R1896R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000399638.1_Silent_p.R1924R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000402845.3_Silent_p.R1915R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1979					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGTCGAAGGGCCTCCTTCC	0.572																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(5686-5688)agG>agA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						84.0	88.0	86.0					12																	2795339		2010	4178	6188	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2795339G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5832G>A	12.37:g.2795339G>A						CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000402845.3_Silent_p.R1915R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C_ENST00000347598.4_Silent_p.R1944R|CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C_ENST00000406454.3_Silent_p.R1967R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000399638.1_Silent_p.R1924R	p.R1896R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	45	5953	+			1979					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.5688G>A	CCDS44788.1																																																																																				0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		65	358	0	0	0	1	0	65	358				
CIRH1A	84916	broad.mit.edu	37	16	69199419	69199419	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69199419A>C	ENST00000314423.7	+	15	2000	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	CIRH1A_ENST00000563094.1_Missense_Mutation_p.D608A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	608					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCATCATTGACAAGTCATTG	0.423																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1822-1824)gAc>gCc		cirrhosis, autosomal recessive 1A (cirhin)							163.0	123.0	137.0					16																	69199419		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69199419A>C	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1823A>C	16.37:g.69199419A>C	ENSP00000327179:p.Asp608Ala					CIRH1A_ENST00000314423.7_Missense_Mutation_p.D608A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A	p.D608A			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1857	+			608					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1823A>C	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218425	0.79464	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.58060	0.87;0.36	6.17	5.08	0.68730	.	0.044316	0.85682	D	0.000000	T	0.70482	0.3229	M	0.74881	2.28	0.58432	D	0.999995	D;D	0.89917	1.0;0.983	D;P	0.77004	0.989;0.808	T	0.73347	-0.4011	10	0.87932	D	0	.	11.5887	0.50933	0.9297:0.0:0.0703:0.0	.	608;608	Q969X6;Q969X6-3	CIR1A_HUMAN;.	A	608;493	ENSP00000327179:D608A;ENSP00000339164:D493A	ENSP00000327179:D608A	D	+	2	0	CIRH1A	67756920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.048000	0.89442	1.146000	0.42352	0.533000	0.62120	GAC		0.423	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		38	161	0	0	0	1	0	38	161				
ACRBP	84519	broad.mit.edu	37	12	6753468	6753468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6753468G>T	ENST00000229243.2	-	5	872	c.779C>A	c.(778-780)tCt>tAt	p.S260Y	ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y|ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGAAGATAGAGATTCAGAGTG	0.517																																						ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(778-780)tCt>tAt		acrosin binding protein							186.0	157.0	167.0					12																	6753468		2203	4300	6503	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6753468G>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.779C>A	12.37:g.6753468G>T	ENSP00000229243:p.Ser260Tyr					ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y|ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y	p.S260Y	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			5	872	-			260						Missense_Mutation	SNP	ENST00000229243.2	37	c.779C>A	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	2.439	-0.329000	0.05314	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.52057	0.68;0.79	3.48	1.42	0.22433	.	0.652572	0.14230	N	0.332834	T	0.35008	0.0917	L	0.54323	1.7	0.09310	N	1	B;B	0.26935	0.047;0.164	B;B	0.21917	0.037;0.037	T	0.23261	-1.0193	10	0.12766	T	0.61	-6.0415	6.3572	0.21408	0.2096:0.0:0.7904:0.0	.	227;260	E7EP66;Q8NEB7	.;ACRBP_HUMAN	Y	260;227;260	ENSP00000229243:S260Y;ENSP00000402725:S227Y	ENSP00000229243:S260Y	S	-	2	0	ACRBP	6623729	0.036000	0.19791	0.001000	0.08648	0.187000	0.23431	1.590000	0.36654	0.348000	0.23949	0.491000	0.48974	TCT		0.517	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		12	250	1	0	0.000978159	1	0.000988919	12	250				
TENM3	55714	broad.mit.edu	37	4	183664403	183664403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183664403C>T	ENST00000511685.1	+	19	3583	c.3460C>T	c.(3460-3462)Cga>Tga	p.R1154*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R1154*|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1154					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGCAATGGGCGAAGGCGCAG	0.517																																						ENST00000511685.1																			0											c.(3460-3462)Cga>Tga		teneurin transmembrane protein 3							73.0	75.0	75.0					4																	183664403		2030	4190	6220	SO:0001587	stop_gained	55714							g.chr4:183664403C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3460C>T	4.37:g.183664403C>T	ENSP00000424226:p.Arg1154*					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Nonsense_Mutation_p.R1154*	p.R1154*							19	3583	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.3460C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	43	10.331783	0.99384	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.45	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4745	0.61301	0.3937:0.6063:0.0:0.0	.	.	.	.	X	1154	.	ENSP00000385276:R1154X	R	+	1	2	ODZ3	183901397	0.994000	0.37717	0.635000	0.29338	0.905000	0.53344	3.150000	0.50662	1.514000	0.48869	0.561000	0.74099	CGA		0.517	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	217	0	0	0	1	0	6	217				
FCRL5	83416	broad.mit.edu	37	1	157514222	157514222	+	Missense_Mutation	SNP	C	C	T	rs138632023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157514222C>T	ENST00000361835.3	-	5	831	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	225	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAAGCGGAACCGGAGCGGGAC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.0					ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(673-675)cGg>cAg		Fc receptor-like 5		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	106.0	112.0	110.0		674,674	-3.4	0.0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	225/999,225/978	157514222	1,13005	2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514222C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.674G>A	1.37:g.157514222C>T	ENSP00000354691:p.Arg225Gln					FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q	p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			5	831	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	225			Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.674G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598003	0.03771	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.11	-3.42	0.04825	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.411730	0.01206	N	0.007709	T	0.00524	0.0017	N	0.00471	-1.455	0.09310	N	0.999999	B;B;B;B;B	0.17667	0.02;0.018;0.022;0.023;0.022	B;B;B;B;B	0.11329	0.003;0.002;0.006;0.003;0.006	T	0.38802	-0.9644	10	0.02654	T	1	.	3.2017	0.06652	0.2813:0.2646:0.0:0.4541	.	140;225;225;225;225	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	Q	225;225;225;140;225	ENSP00000354691:R225Q;ENSP00000349434:R225Q;ENSP00000357173:R225Q;ENSP00000357174:R140Q;ENSP00000357172:R225Q	ENSP00000349434:R225Q	R	-	2	0	FCRL5	155780846	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.450000	0.06803	-0.872000	0.04037	-0.624000	0.04008	CGG		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		143	714	0	0	0	1	0	143	714				
FN1	2335	broad.mit.edu	37	2	216251446	216251446	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216251446C>T	ENST00000359671.1	-	27	4570	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	FN1_ENST00000356005.4_Silent_p.E1435E|FN1_ENST00000323926.6_Silent_p.E1526E|FN1_ENST00000354785.4_Silent_p.E1526E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000443816.1_Silent_p.E1435E|FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E			P02751	FINC_HUMAN	fibronectin 1	1435	Cell-attachment.|Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGGGACTTTCCTCTCTGCCAT	0.468																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(4576-4578)gaG>gaA		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						85.0	78.0	81.0					2																	216251446		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216251446C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4305G>A	2.37:g.216251446C>T						FN1_ENST00000359671.1_Silent_p.E1435E|FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000356005.4_Silent_p.E1435E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000443816.1_Silent_p.E1435E|FN1_ENST00000323926.6_Silent_p.E1526E	p.E1526E			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	28	4947	-		Renal(323;0.127)	1525			Cell-attachment.|Fibronectin type-III 10.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.4578G>A																																																																																					0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		16	244	0	0	0	1	0	16	244				
MYO9A	4649	broad.mit.edu	37	15	72146772	72146772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146772G>A	ENST00000356056.5	-	35	6764	c.6292C>T	c.(6292-6294)Cga>Tga	p.R2098*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2098*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2098	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAGACTTTCGATAAATACCT	0.373																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6292-6294)Cga>Tga		myosin IXA							156.0	149.0	151.0					15																	72146772		2199	4297	6496	SO:0001587	stop_gained	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72146772G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6292C>T	15.37:g.72146772G>A	ENSP00000348349:p.Arg2098*					MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2098*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*	p.R2098*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			35	6764	-			2098			Rho-GAP.|Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.6292C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	42	9.510016	0.99190	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2853	0.66243	0.0:0.0:0.7534:0.2466	.	.	.	.	X	2098;2169;2079	.	ENSP00000348349:R2098X	R	-	1	2	MYO9A	69933826	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.124000	0.42006	2.843000	0.97960	0.591000	0.81541	CGA		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		145	638	0	0	0	1	0	145	638				
L3MBTL2	83746	broad.mit.edu	37	22	41621043	41621043	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41621043C>A	ENST00000216237.5	+	11	1482	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	442					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCCCTGAATCTGGGCAACAT	0.587																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1324-1326)Ctg>Atg		l(3)mbt-like 2 (Drosophila)							161.0	152.0	155.0					22																	41621043		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621043C>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1324C>A	22.37:g.41621043C>A	ENSP00000216237:p.Leu442Met						p.L442M	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			11	1482	+			442					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1324C>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222340	0.79464	.	.	ENSG00000100395	ENST00000216237	T	0.32023	1.47	5.52	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.89095	3.005	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.55823	-0.8080	10	0.34782	T	0.22	.	10.1344	0.42697	0.0:0.7279:0.0:0.2721	.	442;442	Q969R5-3;Q969R5	.;LMBL2_HUMAN	M	442	ENSP00000216237:L442M	ENSP00000216237:L442M	L	+	1	2	L3MBTL2	39950989	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.353000	0.34045	0.312000	0.23038	0.561000	0.74099	CTG		0.587	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		81	376	1	0	1.51188e-25	1	1.73552e-25	81	376				
CPT1C	126129	broad.mit.edu	37	19	50203964	50203964	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50203964G>A	ENST00000392518.4	+	5	677	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CACGGGCTCCGGGGGGTCCTG	0.672																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(304-306)cGg>cAg		carnitine palmitoyltransferase 1C							84.0	82.0	82.0					19																	50203964		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50203964G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.305G>A	19.37:g.50203964G>A	ENSP00000376303:p.Arg102Gln					CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q	p.R102Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	5	677	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	102					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.305G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	1.148	-0.647378	0.03506	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.47	-0.363	0.12556	.	0.620826	0.13466	N	0.385764	T	0.37705	0.1013	N	0.02142	-0.665	0.22185	N	0.999302	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.31558	-0.9939	10	0.08381	T	0.77	-23.8765	3.325	0.07063	0.377:0.2079:0.415:0.0	.	102;102;102	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	Q	102	ENSP00000376303:R102Q;ENSP00000346138:R102Q;ENSP00000384465:R102Q;ENSP00000319343:R102Q	ENSP00000319343:R102Q	R	+	2	0	CPT1C	54895776	0.154000	0.22792	0.936000	0.37596	0.025000	0.11179	0.712000	0.25779	0.142000	0.18901	-0.749000	0.03505	CGG		0.672	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		76	697	0	0	0	1	0	76	697				
UTP15	84135	broad.mit.edu	37	5	72875701	72875701	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72875701G>T	ENST00000296792.4	+	13	1594		c.e13-1		UTP15_ENST00000543251.1_Splice_Site|UTP15_ENST00000508491.1_Splice_Site	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCTCTTTTTAGATATATATCT	0.274																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.e13-1		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							35.0	39.0	38.0					5																	72875701		2195	4297	6492	SO:0001630	splice_region_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72875701G>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.1340-1G>T	5.37:g.72875701G>T						UTP15_ENST00000543251.1_Splice_Site|UTP15_ENST00000508491.1_Splice_Site		NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	13	1594	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)						B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Splice_Site	SNP	ENST00000296792.4	37		CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542509	0.85917	.	.	ENSG00000164338	ENST00000296792;ENST00000509005;ENST00000543251;ENST00000508491	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP15	72911457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.333000	0.90026	2.941000	0.99782	0.655000	0.94253	.		0.274	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	Intron	30	159	1	0	9.65021e-13	1	1.03847e-12	30	159				
TFAP2B	7021	broad.mit.edu	37	6	50786656	50786656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50786656G>A	ENST00000393655.3	+	1	221	c.52G>A	c.(52-54)Gag>Aag	p.E18K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E18K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	18					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAAGCTTGTGGAGAATGTCAA	0.483																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(52-54)Gag>Aag		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							113.0	94.0	100.0					6																	50786656		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50786656G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.52G>A	6.37:g.50786656G>A	ENSP00000377265:p.Glu18Lys					TFAP2B_ENST00000393655.3_Missense_Mutation_p.E18K	p.E18K			Q92481	AP2B_HUMAN			1	218	+	Lung NSC(77;0.156)		18					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.52G>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198890	0.79015	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	T;T;T	0.76839	-1.05;-1.05;-1.05	4.21	4.21	0.49690	.	0.392398	0.26700	N	0.022955	T	0.59074	0.2167	L	0.36672	1.1	0.80722	D	1	B	0.31893	0.345	B	0.26864	0.074	T	0.68318	-0.5440	10	0.72032	D	0.01	-3.8225	16.8977	0.86105	0.0:0.0:1.0:0.0	.	18	Q92481	AP2B_HUMAN	K	18;7;18	ENSP00000377265:E18K;ENSP00000342252:E7K;ENSP00000263046:E18K	ENSP00000263046:E18K	E	+	1	0	TFAP2B	50894615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.094000	0.94168	2.036000	0.60181	0.561000	0.74099	GAG		0.483	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		35	191	0	0	0	1	0	35	191				
ABCA7	10347	broad.mit.edu	37	19	1046243	1046243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046243G>A	ENST00000263094.6	+	13	1691	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	487					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACCCTGGCCCAGCCGCG	0.657																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1459-1461)gGc>gAc		ATP-binding cassette, sub-family A (ABC1), member 7							72.0	79.0	76.0					19																	1046243		2203	4297	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046243G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1460G>A	19.37:g.1046243G>A	ENSP00000263094:p.Gly487Asp					ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D	p.G487D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1691	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	487					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1460G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.234844	0.58886	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97959	-4.63;-4.63	4.95	4.95	0.65309	.	.	.	.	.	D	0.98280	0.9430	M	0.62154	1.92	0.45194	D	0.998207	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.831	D	0.99556	1.0967	9	0.87932	D	0	.	15.6578	0.77155	0.0:0.0:1.0:0.0	.	349;487	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	D	487	ENSP00000263094:G487D;ENSP00000414062:G487D	ENSP00000263094:G487D	G	+	2	0	ABCA7	997243	1.000000	0.71417	0.026000	0.17262	0.020000	0.10135	9.650000	0.98490	2.294000	0.77228	0.556000	0.70494	GGC		0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		49	1139	0	0	0	1	0	49	1139				
MTF1	4520	broad.mit.edu	37	1	38305726	38305726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38305726G>A	ENST00000373036.4	-	3	653	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	171					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGATTACAGACAAAGGTGT	0.557																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(511-513)gtC>gtT		metal-regulatory transcription factor 1							164.0	140.0	148.0					1																	38305726		2203	4300	6503	SO:0001819	synonymous_variant	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38305726G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.513C>T	1.37:g.38305726G>A							p.V171V	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			3	653	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	171					B2RAK6|Q96CB1	Silent	SNP	ENST00000373036.4	37	c.513C>T	CCDS30676.1																																																																																				0.557	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		67	304	0	0	0	1	0	67	304				
DNTT	1791	broad.mit.edu	37	10	98064345	98064345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064345A>G	ENST00000371174.2	+	1	193	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000419175.1_Missense_Mutation_p.K31E			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	31	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TCAAGACATCAAATTTCAAGA	0.557																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(91-93)Aaa>Gaa		DNA nucleotidylexotransferase							45.0	51.0	49.0					10																	98064345		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98064345A>G	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.91A>G	10.37:g.98064345A>G	ENSP00000360216:p.Lys31Glu					RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.K31E	p.K31E	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	1	261	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	31			BRCT.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.91A>G	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701265	0.68501	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.79454	-1.27;-1.27	5.76	3.36	0.38483	BRCT (3);	0.154687	0.53938	D	0.000041	D	0.82995	0.5158	M	0.76328	2.33	0.33866	D	0.634366	P;P	0.35944	0.473;0.529	P;P	0.49528	0.48;0.614	D	0.86221	0.1631	10	0.56958	D	0.05	-11.3577	11.2234	0.48869	0.7369:0.2631:0.0:0.0	.	31;31	P04053-2;P04053	.;TDT_HUMAN	E	31	ENSP00000401169:K31E;ENSP00000360216:K31E	ENSP00000360216:K31E	K	+	1	0	DNTT	98054335	1.000000	0.71417	0.835000	0.33067	0.673000	0.39480	2.387000	0.44389	0.422000	0.26005	0.533000	0.62120	AAA		0.557	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		6	300	0	0	0	1	0	6	300				
SPTA1	6708	broad.mit.edu	37	1	158636273	158636273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158636273C>A	ENST00000368147.4	-	16	2233	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	685					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGTTGGCCTCATGCAACTGG	0.448																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2053-2055)Gag>Tag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							41.0	40.0	40.0					1																	158636273		1944	4138	6082	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158636273C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2053G>T	1.37:g.158636273C>A	ENSP00000357129:p.Glu685*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E685*	p.E685*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			16	2233	-	all_hematologic(112;0.0378)		685					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2053G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869622	0.97049	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.71	2.85	0.33270	.	0.251914	0.20648	N	0.088271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.753	0.40487	0.0:0.8306:0.0:0.1694	.	.	.	.	X	685	.	ENSP00000357129:E685X	E	-	1	0	SPTA1	156902897	1.000000	0.71417	0.110000	0.21437	0.005000	0.04900	4.944000	0.63561	0.601000	0.29879	-0.142000	0.14014	GAG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		29	156	1	0	9.39395e-14	1	1.01619e-13	29	156				
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1_ENST00000454244.1_Silent_p.S118S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(571-573)agC>agT		LIM and cysteine-rich domains 1							93.0	100.0	98.0					3																	8590439		2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8590439C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.573C>T	3.37:g.8590439C>T						LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1_ENST00000454244.1_Silent_p.S118S	p.S191S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	4	805	+			191			PET.		B4DG80	Silent	SNP	ENST00000157600.3	37	c.573C>T	CCDS33688.1																																																																																				0.587	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		133	591	0	0	0	1	0	133	591				
ABO	28	broad.mit.edu	37	9	136132863	136132863	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136132863C>T	ENST00000453660.2	-	0	317				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							132.0	148.0	143.0					9																	136132863		2140	4251	6391			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136132863C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136132863C>T										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	317	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.552	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		51	256	0	0	0	1	0	51	256				
SYNE2	23224	broad.mit.edu	37	14	64625366	64625366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64625366G>A	ENST00000344113.4	+	86	16028	c.15816G>A	c.(15814-15816)atG>atA	p.M5272I	SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I|SYNE2_ENST00000357395.3_Missense_Mutation_p.M1657I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5272					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACCTCCATGCAGTCAGTTT	0.408																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4969-4971)atG>atA		spectrin repeat containing, nuclear envelope 2							114.0	103.0	107.0					14																	64625366		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64625366G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15816G>A	14.37:g.64625366G>A	ENSP00000341781:p.Met5272Ile					SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.M5272I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I	p.M1657I			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	87	16115	+			5272					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4971G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424303	0.43020	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.77	2.98	0.34508	.	0.191659	0.37304	N	0.002151	T	0.24967	0.0606	M	0.62723	1.935	0.80722	D	1	B;B;B;B;B	0.29988	0.171;0.004;0.002;0.066;0.264	B;B;B;B;B	0.26094	0.038;0.011;0.004;0.025;0.066	T	0.04216	-1.0968	10	0.11182	T	0.66	.	8.582	0.33634	0.3021:0.0:0.6979:0.0	.	1657;5195;5189;5272;5272	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	I	5272;1657;5272;5189;5195;1906;1657	ENSP00000350719:M5272I;ENSP00000349969:M1657I;ENSP00000341781:M5272I;ENSP00000452570:M5189I;ENSP00000450831:M1906I;ENSP00000378249:M1657I	ENSP00000261678:M5195I	M	+	3	0	SYNE2	63695119	1.000000	0.71417	0.960000	0.40013	0.805000	0.45488	1.721000	0.38032	0.459000	0.27016	0.650000	0.86243	ATG		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		49	235	0	0	0	1	0	49	235				
MLIP	90523	broad.mit.edu	37	6	54066908	54066908	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54066908G>T	ENST00000274897.5	+	10	1103	c.990G>T	c.(988-990)aaG>aaT	p.K330N	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.K226N|MLIP_ENST00000514921.1_Missense_Mutation_p.K854N|MLIP_ENST00000502396.1_Missense_Mutation_p.K865N|MLIP_ENST00000370876.2_Missense_Mutation_p.K174N|MLIP_ENST00000358276.5_Missense_Mutation_p.K230N|MLIP_ENST00000509997.1_Missense_Mutation_p.K184N	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	330						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGAAGACTAAGCCTGGAGTAA	0.308																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2560-2562)aaG>aaT		muscular LMNA-interacting protein							57.0	59.0	58.0					6																	54066908		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54066908G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.990G>T	6.37:g.54066908G>T	ENSP00000274897:p.Lys330Asn					MLIP_ENST00000274897.5_Missense_Mutation_p.K330N|MLIP_ENST00000509997.1_Missense_Mutation_p.K184N|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Missense_Mutation_p.K865N|MLIP_ENST00000370877.2_Missense_Mutation_p.K226N|MLIP_ENST00000370876.2_Missense_Mutation_p.K174N|MLIP_ENST00000358276.5_Missense_Mutation_p.K230N	p.K854N			Q5VWP3	MLIP_HUMAN			11	2675	+			330					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.2562G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518656	0.64634	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.64	-0.299	0.12808	.	0.000000	0.64402	D	0.000001	T	0.40498	0.1119	M	0.63843	1.955	0.25392	N	0.988511	P;D;D;D	0.89917	0.932;1.0;1.0;1.0	P;D;D;D	0.87578	0.66;0.998;0.983;0.998	T	0.26573	-1.0099	10	0.72032	D	0.01	-4.2592	7.7876	0.29101	0.6326:0.0:0.3674:0.0	.	865;174;330;854	Q5VWP3-3;Q5VWP3-2;Q5VWP3;D6RE05	.;.;MLIP_HUMAN;.	N	330;854;226;184;174;164;865;230;259	ENSP00000274897:K330N;ENSP00000425142:K854N;ENSP00000359914:K226N;ENSP00000427584:K184N;ENSP00000359913:K174N;ENSP00000411917:K164N;ENSP00000426290:K865N;ENSP00000351019:K230N;ENSP00000421444:K259N	ENSP00000274897:K330N	K	+	3	2	MLIP	54174867	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.073000	0.30691	0.011000	0.14865	0.585000	0.79938	AAG		0.308	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		36	206	1	0	6.53348e-20	1	7.30415e-20	36	206				
PHLDB2	90102	broad.mit.edu	37	3	111639200	111639200	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111639200G>A	ENST00000431670.2	+	5	2346	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	PHLDB2_ENST00000412622.1_Silent_p.E645E|PHLDB2_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000393925.3_Silent_p.E645E|PHLDB2_ENST00000495180.1_Silent_p.E231E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	645						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAGAAGGAGATTTTGGATC	0.353																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1933-1935)gaG>gaA		pleckstrin homology-like domain, family B, member 2							117.0	121.0	120.0					3																	111639200		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111639200G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1935G>A	3.37:g.111639200G>A						PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000393925.3_Silent_p.E645E|PHLDB2_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000495180.1_Silent_p.E231E|PHLDB2_ENST00000412622.1_Silent_p.E645E	p.E645E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			5	2346	+			645					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.1935G>A	CCDS46886.1																																																																																				0.353	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		62	335	0	0	0	1	0	62	335				
MORN1	79906	broad.mit.edu	37	1	2318897	2318897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2318897C>T	ENST00000378531.3	-	4	492	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MORN1_ENST00000378529.3_Missense_Mutation_p.G107R|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	107										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCATAACATCCGCCGGCTTTG	0.597																																						ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(319-321)Gga>Aga		MORN repeat containing 1							131.0	120.0	124.0					1																	2318897		2203	4300	6503	SO:0001583	missense	79906							g.chr1:2318897C>T	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.319G>A	1.37:g.2318897C>T	ENSP00000367792:p.Gly107Arg					MORN1_ENST00000378529.3_Missense_Mutation_p.G107R|MORN1_ENST00000606372.1_5'UTR	p.G107R	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	4	492	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	107					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.319G>A	CCDS40.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279792	0.59758	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000378525	T;T;T	0.57107	1.0;1.0;0.42	4.58	4.58	0.56647	.	0.000000	0.53938	D	0.000059	T	0.61009	0.2313	L	0.38953	1.18	0.38970	D	0.958727	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.91635	0.846;0.993;0.999	T	0.58211	-0.7676	10	0.21014	T	0.42	.	14.8721	0.70465	0.0:1.0:0.0:0.0	.	83;107;107	B4DRE3;Q5T089-2;Q5T089	.;.;MORN1_HUMAN	R	107;107;83	ENSP00000367792:G107R;ENSP00000367790:G107R;ENSP00000367786:G83R	ENSP00000367786:G83R	G	-	1	0	MORN1	2308757	0.554000	0.26522	0.133000	0.22050	0.493000	0.33554	4.424000	0.59868	2.073000	0.62155	0.561000	0.74099	GGA		0.597	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		43	514	0	0	0	1	0	43	514				
TMTC2	160335	broad.mit.edu	37	12	83290240	83290240	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:83290240T>G	ENST00000321196.3	+	3	2005	c.1298T>G	c.(1297-1299)cTa>cGa	p.L433R	TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R|TMTC2_ENST00000549919.1_Missense_Mutation_p.L427R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	433					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGCTTCTGCCTACTGATTACA	0.393																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(1279-1281)cTa>cGa		transmembrane and tetratricopeptide repeat containing 2							115.0	111.0	113.0					12																	83290240		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83290240T>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1298T>G	12.37:g.83290240T>G	ENSP00000322300:p.Leu433Arg					TMTC2_ENST00000321196.3_Missense_Mutation_p.L433R|TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R	p.L427R			Q8N394	TMTC2_HUMAN			4	3085	+			433					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1280T>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869647	0.72065	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.47869	0.83;0.83;0.83	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.988;0.99;0.988	T	0.78193	-0.2299	10	0.66056	D	0.02	-14.4338	16.2652	0.82574	0.0:0.0:0.0:1.0	.	433;188;433	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	433;433;427;188	ENSP00000322300:L433R;ENSP00000448292:L433R;ENSP00000447609:L427R	ENSP00000322300:L433R	L	+	2	0	TMTC2	81814371	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.698000	0.84413	2.241000	0.73720	0.528000	0.53228	CTA		0.393	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		88	385	0	0	0	1	0	88	385				
VEPH1	79674	broad.mit.edu	37	3	157131821	157131821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157131821T>C	ENST00000362010.2	-	6	1062	c.755A>G	c.(754-756)gAc>gGc	p.D252G	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	252						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGGATGATGTCATTATGGGT	0.418																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(754-756)gAc>gGc		ventricular zone expressed PH domain-containing 1							110.0	105.0	106.0					3																	157131821		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157131821T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.755A>G	3.37:g.157131821T>C	ENSP00000354919:p.Asp252Gly					VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000469007.1_5'UTR	p.D252G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		6	1062	-			252					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.755A>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.421162	0.42918	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.9	5.9	0.94986	.	0.045054	0.85682	D	0.000000	T	0.47284	0.1437	L	0.41236	1.265	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.62089	0.898;0.793	T	0.26395	-1.0104	10	0.25751	T	0.34	-2.4488	14.9032	0.70696	0.0:0.0:0.0:1.0	.	252;252	Q14D04-2;Q14D04	.;MELT_HUMAN	G	252	ENSP00000376578:D252G;ENSP00000354919:D252G;ENSP00000446258:D252G;ENSP00000376577:D252G	ENSP00000354919:D252G	D	-	2	0	VEPH1	158614515	0.994000	0.37717	0.115000	0.21578	0.967000	0.64934	3.823000	0.55715	2.251000	0.74343	0.528000	0.53228	GAC		0.418	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		47	207	0	0	0	1	0	47	207				
MUC2	4583	broad.mit.edu	37	11	1102483	1102483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1102483G>A	ENST00000441003.2	+	45	7894	c.7867G>A	c.(7867-7869)Gag>Aag	p.E2623K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4985					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCCCCCGGGGAGTGCTGTAA	0.607																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(7867-7869)Gag>Aag		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						52.0	59.0	57.0					11																	1102483		2069	4191	6260	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1102483G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7867G>A	11.37:g.1102483G>A	ENSP00000415183:p.Glu2623Lys						p.E2623K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	45	7894	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4985					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.7867G>A		.	.	.	.	.	.	.	.	.	.	G	4.631	0.117264	0.08881	.	.	ENSG00000198788	ENST00000441003	T	0.66815	-0.23	3.78	1.65	0.23941	.	.	.	.	.	T	0.62708	0.2450	M	0.76574	2.34	0.19300	N	0.999975	P	0.47762	0.9	B	0.39419	0.299	T	0.53415	-0.8442	9	0.25751	T	0.34	.	11.85	0.52405	0.0:0.3331:0.6669:0.0	.	2623	E7EUV1	.	K	2623	ENSP00000415183:E2623K	ENSP00000415183:E2623K	E	+	1	0	MUC2	1092483	0.986000	0.35501	0.015000	0.15790	0.025000	0.11179	1.857000	0.39399	0.676000	0.31285	-0.304000	0.09214	GAG		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		12	104	0	0	0	1	0	12	104				
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73447448C>T	ENST00000224721.6	+	18	2051	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	CDH23_ENST00000299366.7_Silent_p.F722F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	677	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCCTACTTCGTCTCCGTGG	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2044-2046)ttC>ttT		cadherin-related 23							48.0	51.0	50.0					10																	73447448		2073	4210	6283	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73447448C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2046C>T	10.37:g.73447448C>T						CDH23_ENST00000299366.7_Silent_p.F722F	p.F682F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			18	2051	+			677			Cadherin 7.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2046C>T																																																																																					0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		32	148	0	0	0	1	0	32	148				
RNF122	79845	broad.mit.edu	37	8	33406322	33406322	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33406322A>G	ENST00000256257.1	-	6	818	c.417T>C	c.(415-417)agT>agC	p.S139S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	139						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CCTCTGAGGGACTAGCAATGG	0.517																																						ENST00000256257.1																			0				endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(415-417)agT>agC		ring finger protein 122							260.0	221.0	235.0					8																	33406322		2203	4300	6503	SO:0001819	synonymous_variant	79845					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	g.chr8:33406322A>G	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.417T>C	8.37:g.33406322A>G							p.S139S	NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)	6	818	-			139					Q52LK3	Silent	SNP	ENST00000256257.1	37	c.417T>C	CCDS6091.1																																																																																				0.517	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		116	570	0	0	0	1	0	116	570				
STARD3NL	83930	broad.mit.edu	37	7	38254645	38254645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38254645G>A	ENST00000009041.7	+	4	577	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	STARD3NL_ENST00000434197.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000396013.1_Missense_Mutation_p.R107Q	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	107	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GCAGTTTTTCGATTTAAAGTG	0.403																																						ENST00000009041.7																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(319-321)cGa>cAa		STARD3 N-terminal like							117.0	105.0	109.0					7																	38254645		2203	4300	6503	SO:0001583	missense	0					integral to membrane|late endosome membrane		g.chr7:38254645G>A	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.320G>A	7.37:g.38254645G>A	ENSP00000009041:p.Arg107Gln					STARD3NL_ENST00000434197.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000396013.1_Missense_Mutation_p.R107Q	p.R107Q	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN			4	577	+			107			MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.320G>A	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193617	0.94960	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.06	0.68205	MENTAL domain (2);	0.055444	0.64402	N	0.000001	T	0.81772	0.4893	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85473	0.1174	10	0.87932	D	0	-3.4597	13.9587	0.64166	0.0737:0.0:0.9263:0.0	.	107;107	C9JKL2;O95772	.;MENTO_HUMAN	Q	107;100;107;107;107;107;107	ENSP00000009041:R107Q;ENSP00000439436:R100Q;ENSP00000394000:R107Q;ENSP00000379334:R107Q;ENSP00000411933:R107Q;ENSP00000395455:R107Q;ENSP00000402028:R107Q	ENSP00000009041:R107Q	R	+	2	0	STARD3NL	38221170	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.428000	0.97476	1.514000	0.48869	0.643000	0.83706	CGA		0.403	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			49	216	0	0	0	1	0	49	216				
UGT3A1	133688	broad.mit.edu	37	5	35988604	35988604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35988604C>A	ENST00000274278.3	-	2	501	c.144G>T	c.(142-144)gaG>gaT	p.E48D	UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	48						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGACCATGCTCTTGAAGAA	0.343																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(142-144)gaG>gaT		UDP glycosyltransferase 3 family, polypeptide A1							89.0	85.0	87.0					5																	35988604		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35988604C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.144G>T	5.37:g.35988604C>A	ENSP00000274278:p.Glu48Asp					UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Intron	p.E48D	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	501	-	all_lung(31;0.000197)		48					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.144G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	1.370	-0.586342	0.03827	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	T;T	0.61859	0.07;0.07	3.2	-3.12	0.05282	.	0.820851	0.10380	N	0.681632	T	0.16727	0.0402	N	0.00566	-1.37	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	T	0.21655	-1.0239	10	0.14656	T	0.56	.	2.8826	0.05652	0.2244:0.5073:0.1148:0.1535	.	48;48	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	D	48	ENSP00000274278:E48D;ENSP00000427079:E48D	ENSP00000274278:E48D	E	-	3	2	UGT3A1	36024361	0.716000	0.27956	0.976000	0.42696	0.404000	0.30871	-0.858000	0.04281	-0.339000	0.08401	-0.538000	0.04264	GAG		0.343	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		15	229	1	0	5.01169e-05	1	5.1097e-05	15	229				
MARK4	57787	broad.mit.edu	37	19	45774951	45774951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45774951C>T	ENST00000262891.4	+	8	1102	c.771C>T	c.(769-771)gaC>gaT	p.D257D	MARK4_ENST00000300843.4_Silent_p.D257D	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCCTTCGACGGGCACAACC	0.667																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(769-771)gaC>gaT		MAP/microtubule affinity-regulating kinase 4							47.0	52.0	50.0					19																	45774951		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45774951C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.771C>T	19.37:g.45774951C>T						MARK4_ENST00000262891.4_Silent_p.D257D	p.D257D	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1068	+		all_neural(266;0.224)|Ovarian(192;0.231)	257			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.771C>T	CCDS56097.1																																																																																				0.667	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		98	371	0	0	0	1	0	98	371				
TNFRSF13B	23495	broad.mit.edu	37	17	16843683	16843683	+	Missense_Mutation	SNP	C	C	A	rs56248318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16843683C>A	ENST00000261652.2	-	4	600	c.588G>T	c.(586-588)caG>caT	p.Q196H	TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	196					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTGAGCGGGGCTGGCAGGAGC	0.647									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(448-450)caG>caT		tumor necrosis factor receptor superfamily, member 13B							88.0	92.0	91.0					17																	16843683		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843683C>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.588G>T	17.37:g.16843683C>A	ENSP00000261652:p.Gln196His					TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.Q196H	p.Q150H			O14836	TR13B_HUMAN			3	458	-			196					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.450G>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	c	9.113	1.007064	0.19199	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.94092	-3.35;-3.33	3.43	3.43	0.39272	.	0.131984	0.34531	N	0.003899	D	0.94584	0.8255	M	0.66939	2.045	0.30740	N	0.746256	D;D	0.71674	0.998;0.997	P;P	0.61477	0.889;0.778	D	0.91783	0.5437	10	0.40728	T	0.16	-6.7321	10.6958	0.45899	0.0:1.0:0.0:0.0	rs56248318	150;196	O14836-2;O14836	.;TR13B_HUMAN	H	150;196	ENSP00000413453:Q150H;ENSP00000261652:Q196H	ENSP00000261652:Q196H	Q	-	3	2	TNFRSF13B	16784408	0.931000	0.31567	0.330000	0.25442	0.016000	0.09150	1.717000	0.37991	1.628000	0.50416	0.558000	0.71614	CAG		0.647	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			100	493	1	0	1.10825e-40	1	1.34457e-40	100	493				
POLR1A	25885	broad.mit.edu	37	2	86310237	86310237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86310237C>T	ENST00000263857.6	-	7	1163	c.785G>A	c.(784-786)cGc>cAc	p.R262H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	262					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AAGGTGTTCGCGGGCACTGGT	0.453																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(784-786)cGc>cAc		polymerase (RNA) I polypeptide A, 194kDa							117.0	114.0	115.0					2																	86310237		1889	4120	6009	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86310237C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.785G>A	2.37:g.86310237C>T	ENSP00000263857:p.Arg262His					POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H	p.R262H			O95602	RPA1_HUMAN			7	1163	-			262					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.785G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450496	0.63290	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68331	-0.32;-0.32	5.87	2.42	0.29668	RNA polymerase Rpb1, domain 1 (1);	0.328020	0.31660	N	0.007274	T	0.77370	0.4120	M	0.77616	2.38	0.37966	D	0.933144	D;D	0.76494	0.999;0.995	D;D	0.67900	0.954;0.924	T	0.76828	-0.2815	10	0.52906	T	0.07	-2.0575	8.4647	0.32949	0.0:0.4019:0.0:0.5981	.	262;262	B9ZVN9;O95602	.;RPA1_HUMAN	H	262	ENSP00000263857:R262H;ENSP00000386300:R262H	ENSP00000263857:R262H	R	-	2	0	POLR1A	86163748	0.591000	0.26824	0.563000	0.28383	0.945000	0.59286	0.222000	0.17699	0.151000	0.19162	0.655000	0.94253	CGC		0.453	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		70	220	0	0	0	1	0	70	220				
XIRP1	165904	broad.mit.edu	37	3	39230603	39230603	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39230603G>A	ENST00000340369.3	-	2	562	c.334C>T	c.(334-336)Cca>Tca	p.P112S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	112					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTGGCAGCTGGCCTCTCGTGT	0.597																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(334-336)Cca>Tca		xin actin-binding repeat containing 1							72.0	72.0	72.0					3																	39230603		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230603G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.334C>T	3.37:g.39230603G>A	ENSP00000343140:p.Pro112Ser					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S	p.P112S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	562	-			112					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.334C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040298	0.08148	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04603	3.59;3.97	4.93	4.93	0.64822	.	0.160135	0.42420	U	0.000714	T	0.08133	0.0203	N	0.24115	0.695	0.80722	D	1	D;P	0.57899	0.981;0.48	P;B	0.52109	0.69;0.28	T	0.20273	-1.0280	10	0.66056	D	0.02	.	16.048	0.80734	0.0:0.0:1.0:0.0	.	112;112	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	112	ENSP00000379550:P112S;ENSP00000343140:P112S	ENSP00000343140:P112S	P	-	1	0	XIRP1	39205607	1.000000	0.71417	0.286000	0.24833	0.165000	0.22458	2.383000	0.44354	2.465000	0.83290	0.655000	0.94253	CCA		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		78	317	0	0	0	1	0	78	317				
ZKSCAN2	342357	broad.mit.edu	37	16	25251325	25251325	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251325G>A	ENST00000328086.7	-	7	3519	c.2716C>T	c.(2716-2718)Cgg>Tgg	p.R906W	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	906					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTATTCTCCGATGTTCTCGA	0.458																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2716-2718)Cgg>Tgg		zinc finger with KRAB and SCAN domains 2							97.0	84.0	89.0					16																	25251325		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251325G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2716C>T	16.37:g.25251325G>A	ENSP00000331626:p.Arg906Trp						p.R906W	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3519	-			906					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2716C>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725457	0.30593	.	.	ENSG00000155592	ENST00000328086	T	0.18810	2.19	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.438734	0.20673	N	0.087800	T	0.39937	0.1097	M	0.87682	2.9	0.26774	N	0.969735	D;D	0.67145	0.993;0.996	P;P	0.51101	0.545;0.659	T	0.47114	-0.9142	10	0.48119	T	0.1	-5.7995	12.3085	0.54915	0.0:0.1697:0.8303:0.0	.	702;906	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	906	ENSP00000331626:R906W	ENSP00000331626:R906W	R	-	1	2	ZKSCAN2	25158826	0.905000	0.30787	0.563000	0.28383	0.023000	0.10783	1.766000	0.38491	2.824000	0.97209	0.655000	0.94253	CGG		0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		77	270	0	0	0	1	0	77	270				
ARHGEF18	23370	broad.mit.edu	37	19	7531999	7531999	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7531999C>A	ENST00000359920.6	+	15	2693	c.2440C>A	c.(2440-2442)Ctt>Att	p.L814I	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.L656I|CTD-2207O23.3_ENST00000593531.1_Silent_p.T771T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	814					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCTCCTGAACCTTCAGGTACA	0.677																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(2440-2442)Ctt>Att		Rho/Rac guanine nucleotide exchange factor (GEF) 18							51.0	53.0	52.0					19																	7531999		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7531999C>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2440C>A	19.37:g.7531999C>A	ENSP00000352995:p.Leu814Ile					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.L656I|CTD-2207O23.3_ENST00000593531.1_Silent_p.T771T	p.L814I	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			15	2693	+		Renal(5;0.0902)	814					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2440C>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604987	0.46423	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.41758	0.99;0.99	5.38	5.38	0.77491	.	0.000000	0.48767	D	0.000175	T	0.61261	0.2333	M	0.78801	2.425	0.58432	D	0.999995	P;P	0.46952	0.843;0.887	P;P	0.57244	0.773;0.816	T	0.63328	-0.6662	10	0.52906	T	0.07	-29.0364	14.6139	0.68534	0.0:1.0:0.0:0.0	.	656;814	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	I	656;814	ENSP00000319200:L656I;ENSP00000352995:L814I	ENSP00000319200:L656I	L	+	1	0	ARHGEF18	7437999	1.000000	0.71417	0.578000	0.28575	0.039000	0.13416	4.215000	0.58534	2.522000	0.85027	0.561000	0.74099	CTT		0.677	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		96	425	1	0	5.01286e-43	1	6.11331e-43	96	425				
NIPBL	25836	broad.mit.edu	37	5	37000589	37000589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000589G>A	ENST00000282516.8	+	12	3918	c.3419G>A	c.(3418-3420)aGt>aAt	p.S1140N	NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1140					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAAGAAGGAGTTCAGGTGGT	0.453																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(3418-3420)aGt>aAt		Nipped-B homolog (Drosophila)							169.0	163.0	165.0					5																	37000589		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37000589G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3419G>A	5.37:g.37000589G>A	ENSP00000282516:p.Ser1140Asn					NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		12	3918	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1140					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3419G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975683	0.53720	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93366	-3.21;-3.21	5.81	5.81	0.92471	.	0.098581	0.64402	D	0.000001	D	0.84306	0.5443	N	0.08118	0	0.36449	D	0.865984	B;B	0.30281	0.039;0.275	B;B	0.27715	0.011;0.082	D	0.84191	0.0445	10	0.25106	T	0.35	.	12.7995	0.57578	0.0:0.1238:0.7477:0.1285	.	1140;1140	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	1140	ENSP00000282516:S1140N;ENSP00000406266:S1140N	ENSP00000282516:S1140N	S	+	2	0	NIPBL	37036346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.341000	0.65964	2.759000	0.94783	0.591000	0.81541	AGT		0.453	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		68	349	0	0	0	1	0	68	349				
SVIL	6840	broad.mit.edu	37	10	29779902	29779902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29779902G>A	ENST00000355867.4	-	22	4818	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000535393.1_Missense_Mutation_p.R270C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C|SVIL_ENST00000375398.2_Missense_Mutation_p.R1356C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1356					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAACCCGGCGCTTGGGCCTA	0.572																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4066-4068)Cgc>Tgc		supervillin							40.0	41.0	41.0					10																	29779902		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29779902G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4066C>T	10.37:g.29779902G>A	ENSP00000348128:p.Arg1356Cys					SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000355867.4_Missense_Mutation_p.R1356C|SVIL_ENST00000535393.1_Missense_Mutation_p.R270C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C	p.R1356C			O95425	SVIL_HUMAN			24	4515	-		Breast(68;0.103)	1356					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4066C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559153	0.65538	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.37411	2.14;2.05;2.05;2.11;1.2	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	M	0.76574	2.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.67898	-0.5551	10	0.87932	D	0	-17.2551	16.543	0.84407	0.0:0.0:1.0:0.0	.	270;148;930;1356	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	C	930;1356;1356;270;310;148	ENSP00000364549:R930C;ENSP00000364547:R1356C;ENSP00000348128:R1356C;ENSP00000445472:R270C;ENSP00000440343:R148C	ENSP00000348128:R1356C	R	-	1	0	SVIL	29819908	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	6.267000	0.72546	2.110000	0.64415	0.485000	0.47835	CGC		0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			44	210	0	0	0	1	0	44	210				
VAC14	55697	broad.mit.edu	37	16	70815788	70815788	+	Silent	SNP	G	G	A	rs145425796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70815788G>A	ENST00000261776.5	-	8	1190	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	310					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCGGTCATCGTAGGCCAAGC	0.572																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(928-930)taC>taT		Vac14 homolog (S. cerevisiae)		G		0,4396		0,0,2198	55.0	53.0	54.0		930	-3.4	0.9	16	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	VAC14	NM_018052.3		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		310/783	70815788	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70815788G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.930C>T	16.37:g.70815788G>A							p.Y310Y	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			8	1190	-		Ovarian(137;0.0699)	310					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.930C>T	CCDS10896.1																																																																																				0.572	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		29	254	0	0	0	1	0	29	254				
FAM227B	196951	broad.mit.edu	37	15	49868971	49868971	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49868971A>C	ENST00000299338.6	-	7	816	c.513T>G	c.(511-513)atT>atG	p.I171M	FAM227B_ENST00000558594.1_3'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.I171M|FAM227B_ENST00000560246.1_3'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	171																	TAAAAAGATAAATTTGTTCAG	0.308																																						ENST00000299338.6																			0											c.(511-513)atT>atG		family with sequence similarity 227, member B							36.0	40.0	39.0					15																	49868971		2196	4292	6488	SO:0001583	missense	196951							g.chr15:49868971A>C		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.513T>G	15.37:g.49868971A>C	ENSP00000299338:p.Ile171Met					FAM227B_ENST00000561064.1_Missense_Mutation_p.I171M|FAM227B_ENST00000560246.1_3'UTR|FAM227B_ENST00000558594.1_3'UTR	p.I171M	NM_152647.2	NP_689860.2					7	816	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.513T>G	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044440	0.08196	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.79	2.39	0.29439	.	0.123548	0.36591	N	0.002511	T	0.35038	0.0918	N	0.25957	0.775	0.80722	D	1	B;B	0.25563	0.039;0.129	B;B	0.27715	0.082;0.066	T	0.09818	-1.0657	9	0.46703	T	0.11	-6.1224	5.5213	0.16933	0.6453:0.1813:0.0:0.1733	.	171;171	Q96M60-2;Q96M60	.;CO033_HUMAN	M	171	.	ENSP00000299338:I171M	I	-	3	3	C15orf33	47656263	0.999000	0.42202	0.992000	0.48379	0.139000	0.21198	0.595000	0.24029	0.379000	0.24794	-1.804000	0.00617	ATT		0.308	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		23	94	0	0	0	1	0	23	94				
APAF1	317	broad.mit.edu	37	12	99053094	99053094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99053094G>A	ENST00000551964.1	+	5	1419	c.683G>A	c.(682-684)cGc>cAc	p.R228H	APAF1_ENST00000547045.1_Missense_Mutation_p.R228H|APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H|APAF1_ENST00000357310.1_Missense_Mutation_p.R228H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	228	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GACCGTCTCCGCATTCTGATG	0.453																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(682-684)cGc>cAc		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						95.0	93.0	94.0					12																	99053094		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99053094G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.683G>A	12.37:g.99053094G>A	ENSP00000448165:p.Arg228His					APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000551964.1_Missense_Mutation_p.R228H|APAF1_ENST00000547045.1_Missense_Mutation_p.R228H|APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H	p.R228H	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			5	1260	+			228			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.683G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819499	0.71028	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	4.63	0.57726	NB-ARC (1);	0.049268	0.85682	D	0.000000	D	0.87075	0.6087	L	0.61218	1.895	0.80722	D	1	D;P;P;P;D	0.76494	0.974;0.474;0.803;0.938;0.999	B;B;B;B;D	0.71184	0.233;0.078;0.151;0.344;0.972	D	0.86685	0.1919	10	0.46703	T	0.11	-17.0243	14.7562	0.69567	0.0704:0.0:0.9296:0.0	.	228;228;217;228;217	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	H	228;217;228;228;228;228;217;228;228	ENSP00000448165:R228H;ENSP00000353059:R217H;ENSP00000349862:R228H;ENSP00000341830:R228H;ENSP00000334558:R228H;ENSP00000448826:R228H;ENSP00000448449:R217H;ENSP00000449791:R228H;ENSP00000448161:R228H	ENSP00000334558:R228H	R	+	2	0	APAF1	97577225	1.000000	0.71417	0.974000	0.42286	0.160000	0.22226	6.819000	0.75262	2.610000	0.88304	0.650000	0.86243	CGC		0.453	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		72	340	0	0	0	1	0	72	340				
ARIH1	25820	broad.mit.edu	37	15	72875582	72875582	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72875582G>T	ENST00000379887.4	+	14	1937	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	541					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTTTGTTACAGCATGTGCATG	0.373																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(1621-1623)caG>caT		ariadne RBR E3 ubiquitin protein ligase 1							123.0	117.0	119.0					15																	72875582		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72875582G>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1623G>T	15.37:g.72875582G>T	ENSP00000369217:p.Gln541His					ARIH1_ENST00000562891.1_3'UTR	p.Q541H	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			14	1937	+			541					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.1623G>T	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713107	0.48517	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.86562	-2.14	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	L	0.31926	0.97	0.80722	D	1	P	0.39424	0.673	B	0.40982	0.345	D	0.84533	0.0634	10	0.62326	D	0.03	.	14.8637	0.70399	0.0:0.0:0.8565:0.1435	.	541	Q9Y4X5	ARI1_HUMAN	H	541;511	ENSP00000369217:Q541H	ENSP00000299305:Q511H	Q	+	3	2	ARIH1	70662636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.242000	0.72376	2.763000	0.94921	0.650000	0.86243	CAG		0.373	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		81	405	1	0	3.98749e-38	1	4.80009e-38	81	405				
LCLAT1	253558	broad.mit.edu	37	2	30756073	30756073	+	Missense_Mutation	SNP	G	G	A	rs559540287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30756073G>A	ENST00000309052.4	+	4	580	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	124					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ATGAACCATCGGACAAGAATG	0.413																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(370-372)cGg>cAg		lysocardiolipin acyltransferase 1							210.0	200.0	203.0					2																	30756073		2203	4300	6503	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30756073G>A	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.371G>A	2.37:g.30756073G>A	ENSP00000310551:p.Arg124Gln					LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR	p.R124Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			4	580	+			124					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.371G>A	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938400	0.73557	.	.	ENSG00000172954	ENST00000466477;ENST00000465200;ENST00000379509;ENST00000444270;ENST00000319406;ENST00000488144;ENST00000465538;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038;ENST00000497423;ENST00000476535	D;D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.41	3.61	0.41365	Phospholipid/glycerol acyltransferase (2);	0.101779	0.64402	D	0.000001	D	0.92397	0.7587	L	0.38649	1.16	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.91635	0.965;0.999	D	0.88787	0.3275	10	0.19590	T	0.45	-12.3911	11.7451	0.51815	0.1428:0.0:0.8572:0.0	.	124;124	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	Q	86;86;86;86;124;86;86;124;124;86;86;124;86	ENSP00000419966:R86Q;ENSP00000420481:R86Q;ENSP00000368823:R86Q;ENSP00000368826:R124Q;ENSP00000417951:R86Q;ENSP00000417565:R86Q;ENSP00000310551:R124Q;ENSP00000352406:R124Q;ENSP00000442857:R86Q;ENSP00000419646:R86Q;ENSP00000417875:R124Q;ENSP00000419444:R86Q	ENSP00000310551:R124Q	R	+	2	0	LCLAT1	30609577	1.000000	0.71417	0.995000	0.50966	0.287000	0.27160	9.554000	0.98121	0.771000	0.33359	0.650000	0.86243	CGG		0.413	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		192	840	0	0	0	1	0	192	840				
SUCO	51430	broad.mit.edu	37	1	172558587	172558587	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172558587G>A	ENST00000263688.3	+	18	2565	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	SUCO_ENST00000367723.4_Silent_p.E933E|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Silent_p.E934E	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	782					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AAAAGTCTGAGAGCTTTAGTT	0.338																																						ENST00000367723.3																			0											c.(2800-2802)gaG>gaA		SUN domain containing ossification factor							46.0	47.0	46.0					1																	172558587		2190	4283	6473	SO:0001819	synonymous_variant	51430							g.chr1:172558587G>A	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2346G>A	1.37:g.172558587G>A						SUCO_ENST00000263688.3_Silent_p.E782E	p.E934E	NM_016227.2	NP_057311.2					17	2926	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.2802G>A	CCDS1303.1																																																																																				0.338	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		73	220	0	0	0	1	0	73	220				
HYDIN	54768	broad.mit.edu	37	16	70954552	70954552	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70954552A>G	ENST00000393567.2	-	46	7877	c.7727T>C	c.(7726-7728)tTt>tCt	p.F2576S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2576					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAGCCTTCAAAGTCTGGTGT	0.592																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(7726-7728)tTt>tCt		HYDIN, axonemal central pair apparatus protein							41.0	43.0	42.0					16																	70954552		2006	4177	6183	SO:0001583	missense	54768							g.chr16:70954552A>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7727T>C	16.37:g.70954552A>G	ENSP00000377197:p.Phe2576Ser						p.F2576S	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			46	7877	-		Ovarian(137;0.0654)	2576					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.7727T>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	8.662	0.900781	0.17686	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00760	5.73	5.89	-4.2	0.03823	.	1.438640	0.05358	N	0.533179	T	0.00666	0.0022	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48293	-0.9048	10	0.08599	T	0.76	.	10.6572	0.45682	0.2027:0.1429:0.6544:0.0	.	2575	F8WD23	.	S	2576;2575	ENSP00000377197:F2576S	ENSP00000313052:F2575S	F	-	2	0	HYDIN	69512053	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.702000	0.25631	-0.698000	0.05085	-0.315000	0.08773	TTT		0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			23	110	0	0	0	1	0	23	110				
ZNF132	7691	broad.mit.edu	37	19	58945596	58945596	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945596G>A	ENST00000254166.3	-	3	1615	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CACATTGACTGCACTCATAAG	0.468																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1213-1215)tgC>tgT		zinc finger protein 132							112.0	105.0	108.0					19																	58945596		2203	4300	6503	SO:0001819	synonymous_variant	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945596G>A	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1215C>T	19.37:g.58945596G>A							p.C405C	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1615	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	405					Q32MI9	Silent	SNP	ENST00000254166.3	37	c.1215C>T	CCDS12980.1																																																																																				0.468	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		42	383	0	0	0	1	0	42	383				
POLL	27343	broad.mit.edu	37	10	103347012	103347012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103347012C>A	ENST00000370162.3	-	2	600	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000436284.2_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000370147.1_5'Flank|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	36	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCTTCTGCTTCTTCTCCCTCT	0.483								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(106-108)Gaa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							215.0	185.0	195.0					10																	103347012		2203	4300	6503	SO:0001587	stop_gained	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103347012C>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.106G>T	10.37:g.103347012C>A	ENSP00000359181:p.Glu36*					POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|POLL_ENST00000370172.1_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|DPCD_ENST00000470165.1_Intron|POLL_ENST00000436284.2_Intron|DPCD_ENST00000416979.2_Intron	p.E36*	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	2	600	-		Colorectal(252;0.234)	36			BRCT.		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Nonsense_Mutation	SNP	ENST00000370162.3	37	c.106G>T	CCDS7513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488665|2.488665	0.44249|0.44249	.|.	.|.	ENSG00000166169|ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000413344;ENST00000430045|ENST00000339310;ENST00000370158;ENST00000456836;ENST00000429502	.|T;T;T;T	.|0.42131	.|0.98;2.46;2.4;0.98	5.05|5.05	4.15|4.15	0.48705|0.48705	.|.	1.271560|.	0.05127|.	N|.	0.491771|.	.|T	.|0.31104	.|0.0786	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999982|0.999982	.|B;B;B	.|0.31413	.|0.057;0.18;0.322	.|B;B;B	.|0.28553	.|0.019;0.025;0.091	.|T	.|0.17440	.|-1.0369	.|8	0.12766|0.48119	T|T	0.61|0.1	-6.2789|-6.2789	9.1991|9.1991	0.37246|0.37246	0.0:0.8281:0.0:0.1719|0.0:0.8281:0.0:0.1719	.|.	.|17;17;19	.|Q5JQP4;B4DEF5;Q9BTN8	.|.;.;.	X|N	36|17;19;17;17	.|ENSP00000343102:K17N;ENSP00000359177:K19N;ENSP00000390810:K17N;ENSP00000406791:K17N	ENSP00000299206:E36X|ENSP00000343102:K17N	E|K	-|-	1|3	0|2	POLL|POLL	103337002|103337002	0.186000|0.186000	0.23225|0.23225	0.010000|0.010000	0.14722|0.14722	0.049000|0.049000	0.14656|0.14656	1.336000|1.336000	0.33850|0.33850	1.143000|1.143000	0.42306|0.42306	-0.253000|-0.253000	0.11424|0.11424	GAA|AAG		0.483	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		124	550	1	0	6.19368e-37	1	7.42852e-37	124	550				
KAT5	10524	broad.mit.edu	37	11	65481297	65481297	+	Missense_Mutation	SNP	C	C	T	rs529240661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65481297C>T	ENST00000377046.3	+	7	841	c.569C>T	c.(568-570)tCg>tTg	p.S190L	KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L|KAT5_ENST00000341318.4_Missense_Mutation_p.S223L	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	190					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AAGCGAAAATCGAATTGTTTG	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17307	0.0		0.0	False		,,,				2504	0.001					ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(667-669)tCg>tTg		K(lysine) acetyltransferase 5							34.0	28.0	30.0					11																	65481297		2200	4293	6493	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65481297C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.569C>T	11.37:g.65481297C>T	ENSP00000366245:p.Ser190Leu					KAT5_ENST00000377046.3_Missense_Mutation_p.S190L|KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L|KAT5_ENST00000534650.1_5'UTR	p.S223L	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			6	902	+			190					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.668C>T	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175512	0.38413	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.44482	0.93;0.98;0.92;0.99;0.96;0.94	5.28	5.28	0.74379	.	0.258670	0.32147	N	0.006507	T	0.31327	0.0793	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.26975	0.002;0.005;0.165;0.002	B;B;B;B	0.22152	0.001;0.006;0.038;0.001	T	0.06588	-1.0818	10	0.25751	T	0.34	-8.2286	16.395	0.83601	0.0:1.0:0.0:0.0	.	171;223;138;190	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	L	190;138;223;171;132;184	ENSP00000366245:S190L;ENSP00000344955:S138L;ENSP00000340330:S223L;ENSP00000434765:S171L;ENSP00000436000:S132L;ENSP00000436012:S184L	ENSP00000340330:S223L	S	+	2	0	KAT5	65237873	0.999000	0.42202	0.981000	0.43875	0.944000	0.59088	5.434000	0.66526	2.472000	0.83506	0.561000	0.74099	TCG		0.542	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		14	66	0	0	0	1	0	14	66				
SYK	6850	broad.mit.edu	37	9	93606405	93606405	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606405C>A	ENST00000375754.4	+	2	373	c.225C>A	c.(223-225)gcC>gcA	p.A75A	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Silent_p.A75A|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	75	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCACCTACGCCATCGCCGGTG	0.657			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(223-225)gcC>gcA		spleen tyrosine kinase							53.0	42.0	46.0					9																	93606405		2203	4300	6503	SO:0001819	synonymous_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606405C>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.225C>A	9.37:g.93606405C>A						SYK_ENST00000375751.4_Silent_p.A75A|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A	p.A75A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			2	373	+			75			SH2 1.			Silent	SNP	ENST00000375754.4	37	c.225C>A	CCDS6688.1																																																																																				0.657	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			7	256	1	0	0.0477658	1	0.0478703	7	256				
CELSR3	1951	broad.mit.edu	37	3	48682471	48682471	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48682471G>T	ENST00000164024.4	-	25	8249	c.7969C>A	c.(7969-7971)Ctg>Atg	p.L2657M	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.L2662M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2657					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCTCACCCAGCAGCACAGCA	0.662																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7984-7986)Ctg>Atg		cadherin, EGF LAG seven-pass G-type receptor 3							32.0	35.0	34.0					3																	48682471		2201	4297	6498	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48682471G>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7969C>A	3.37:g.48682471G>T	ENSP00000164024:p.Leu2657Met					CELSR3_ENST00000164024.4_Missense_Mutation_p.L2657M	p.L2662M			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	26	8264	-			2657					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7984C>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365189	0.61513	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.47177	0.85;0.85	5.15	2.17	0.27698	GPCR, family 2-like (1);	.	.	.	.	T	0.42944	0.1225	N	0.20986	0.625	0.27077	N	0.963176	D;D	0.64830	0.994;0.988	P;P	0.62491	0.903;0.9	T	0.23619	-1.0183	9	0.36615	T	0.2	.	1.2483	0.01977	0.1901:0.1252:0.4207:0.264	.	2657;2754	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2657;2662	ENSP00000164024:L2657M;ENSP00000445694:L2662M	ENSP00000164024:L2657M	L	-	1	2	CELSR3	48657475	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.228000	0.42981	0.555000	0.29079	-0.339000	0.08088	CTG		0.662	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		28	150	1	0	1.2476e-16	1	1.37204e-16	28	150				
CEP63	80254	broad.mit.edu	37	3	134226043	134226043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134226043G>A	ENST00000337090.3	+	3	310	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CEP63_ENST00000383229.3_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000606977.1_Missense_Mutation_p.R46H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	46					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGAAGGACGTACACATGCT	0.388																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(136-138)cGt>cAt		centrosomal protein 63kDa							125.0	123.0	123.0					3																	134226043		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134226043G>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.137G>A	3.37:g.134226043G>A	ENSP00000336524:p.Arg46His					CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000606977.1_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000383229.3_Missense_Mutation_p.R46H	p.R46H			Q96MT8	CEP63_HUMAN			3	310	+			46					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.137G>A	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993294	0.54041	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.24538	1.93;1.93;1.93;1.93;1.93;1.85;1.93	5.25	2.9	0.33743	.	0.127443	0.53938	D	0.000052	T	0.11367	0.0277	N	0.08118	0	0.21499	N	0.999661	P;P;B;P	0.50272	0.916;0.933;0.098;0.567	B;B;B;B	0.38428	0.273;0.265;0.04;0.102	T	0.11012	-1.0605	10	0.72032	D	0.01	-7.3674	8.4607	0.32925	0.835:0.0:0.165:0.0	.	46;46;46;46	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	H	46	ENSP00000328382:R46H;ENSP00000346432:R46H;ENSP00000424626:R46H;ENSP00000336524:R46H;ENSP00000372716:R46H;ENSP00000423225:R46H;ENSP00000426129:R46H	ENSP00000328382:R46H	R	+	2	0	CEP63	135708733	1.000000	0.71417	0.983000	0.44433	0.840000	0.47671	4.443000	0.59994	0.416000	0.25844	-0.302000	0.09304	CGT		0.388	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		81	331	0	0	0	1	0	81	331				
DHX37	57647	broad.mit.edu	37	12	125437016	125437016	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125437016G>A	ENST00000308736.2	-	21	2894	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	DHX37_ENST00000544745.1_Silent_p.G719G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	932							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGTCCCCCAGGCCTGCCGTCA	0.672																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(2794-2796)ggC>ggT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							56.0	45.0	49.0					12																	125437016		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125437016G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2796C>T	12.37:g.125437016G>A						DHX37_ENST00000544745.1_Silent_p.G719G	p.G932G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	21	2894	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		932					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.2796C>T	CCDS9261.1																																																																																				0.672	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		23	151	0	0	0	1	0	23	151				
APOB	338	broad.mit.edu	37	2	21238318	21238318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21238318G>A	ENST00000233242.1	-	22	3559	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1144					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCAGTTTGGCAGGCGACC	0.488																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3430-3432)gcC>gcT		apolipoprotein B	Atorvastatin(DB01076)						150.0	131.0	138.0					2																	21238318		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21238318G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3432C>T	2.37:g.21238318G>A							p.A1144A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			22	3559	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1144					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.3432C>T	CCDS1703.1																																																																																				0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			68	344	0	0	0	1	0	68	344				
ZNF628	89887	broad.mit.edu	37	19	55995125	55995125	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995125G>A	ENST00000598519.1	+	3	3118	c.2565G>A	c.(2563-2565)caG>caA	p.Q855Q	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.Q851Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	855	4 X approximate tandem repeats.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCACGGTCCAGCTCCAGCCAG	0.657																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2551-2553)caG>caA		zinc finger protein 628							49.0	56.0	54.0					19																	55995125		2203	4299	6502	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995125G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2565G>A	19.37:g.55995125G>A						ZNF628_ENST00000598519.1_Silent_p.Q855Q	p.Q851Q			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3118	+	Breast(117;0.155)		851			4 X approximate tandem repeats.		Q86X34	Silent	SNP	ENST00000598519.1	37	c.2553G>A	CCDS33116.3																																																																																				0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		74	250	0	0	0	1	0	74	250				
POLR1A	25885	broad.mit.edu	37	2	86266459	86266459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86266459G>T	ENST00000263857.6	-	26	4245	c.3867C>A	c.(3865-3867)tgC>tgA	p.C1289*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1289					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTCCCCCAAGCACACCCTGG	0.537																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(3865-3867)tgC>tgA		polymerase (RNA) I polypeptide A, 194kDa							194.0	196.0	195.0					2																	86266459		1961	4156	6117	SO:0001587	stop_gained	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86266459G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3867C>A	2.37:g.86266459G>T	ENSP00000263857:p.Cys1289*					POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*	p.C1289*			O95602	RPA1_HUMAN			26	4245	-			1289					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	37	c.3867C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	45	11.307215	0.99545	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-24.0429	14.2295	0.65882	0.0724:0.0:0.9276:0.0	.	.	.	.	X	1289	.	ENSP00000263857:C1289X	C	-	3	2	POLR1A	86119970	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.664000	0.54525	1.373000	0.46208	0.655000	0.94253	TGC		0.537	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		197	1062	1	0	1.56929e-64	1	1.98263e-64	197	1062				
RGS12	6002	broad.mit.edu	37	4	3318679	3318679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318679G>A	ENST00000344733.5	+	2	1686	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RGS12_ENST00000382788.3_Missense_Mutation_p.R261H|RGS12_ENST00000543385.1_Missense_Mutation_p.R261H|RGS12_ENST00000336727.3_Missense_Mutation_p.R261H	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	261	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATGCGGCGCCTGCGGGCA	0.597																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(781-783)cGc>cAc		regulator of G-protein signaling 12							36.0	37.0	37.0					4																	3318679		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318679G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.782G>A	4.37:g.3318679G>A	ENSP00000339381:p.Arg261His					RGS12_ENST00000382788.3_Missense_Mutation_p.R261H|RGS12_ENST00000344733.5_Missense_Mutation_p.R261H|RGS12_ENST00000543385.1_Missense_Mutation_p.R261H	p.R261H	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1686	+			261			PID.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.782G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244640	0.79912	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.23552	1.9;2.51;2.51;2.51	4.39	4.39	0.52855	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.97;0.988	T	0.62158	-0.6913	10	0.87932	D	0	-30.3977	15.9516	0.79843	0.0:0.0:1.0:0.0	.	261;261;261	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	H	261	ENSP00000440566:R261H;ENSP00000339381:R261H;ENSP00000338509:R261H;ENSP00000372238:R261H	ENSP00000338509:R261H	R	+	2	0	RGS12	3288477	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.417000	0.73337	1.989000	0.58080	0.491000	0.48974	CGC		0.597	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		66	265	0	0	0	1	0	66	265				
ETS2	2114	broad.mit.edu	37	21	40184962	40184962	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40184962G>A	ENST00000360214.3	+	4	568	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ETS2_ENST00000360938.3_Silent_p.L36L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	36					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ATGGGTCCCTGTTTGCTGTTT	0.398																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(106-108)ctG>ctA		v-ets avian erythroblastosis virus E26 oncogene homolog 2							134.0	133.0	134.0					21																	40184962		2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40184962G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.108G>A	21.37:g.40184962G>A						ETS2_ENST00000360938.3_Silent_p.L36L	p.L36L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			4	568	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	36					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.108G>A	CCDS13659.1																																																																																				0.398	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			109	402	0	0	0	1	0	109	402				
MAP2K7	5609	broad.mit.edu	37	19	7974947	7974947	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7974947G>A	ENST00000397979.3	+	3	320		c.e3-1		CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Splice_Site|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000545011.1_Splice_Site	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CATGTCCCCAGCATTGAGATT	0.622																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.e3-1		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						25.0	28.0	27.0					19																	7974947		2037	4178	6215	SO:0001630	splice_region_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7974947G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.267-1G>A	19.37:g.7974947G>A						MAP2K7_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site				O14733	MP2K7_HUMAN			3	331	+								B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Splice_Site	SNP	ENST00000397979.3	37		CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901762	0.52227	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	.	.	.	4.69	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9413	0.47275	0.0938:0.0:0.9062:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K7	7880947	1.000000	0.71417	0.988000	0.46212	0.856000	0.48823	3.565000	0.53798	1.118000	0.41863	0.561000	0.74099	.		0.622	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		Intron	5	56	0	0	0	1	0	5	56				
IFRD1	3475	broad.mit.edu	37	7	112112901	112112901	+	Missense_Mutation	SNP	T	T	G	rs574598683	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112112901T>G	ENST00000403825.3	+	11	1512	c.1251T>G	c.(1249-1251)atT>atG	p.I417M	IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M|IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	417					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CGATGAAGATTTCTCGTTTCG	0.373																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1249-1251)atT>atG		interferon-related developmental regulator 1							121.0	123.0	122.0					7																	112112901		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112901T>G	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1251T>G	7.37:g.112112901T>G	ENSP00000384477:p.Ile417Met					IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M|IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M	p.I417M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			11	1512	+			417					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.1251T>G	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.411736	0.62399	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.81	2.13	0.27403	Interferon-related developmental regulator, C-terminal (1);	0.103669	0.64402	D	0.000003	T	0.56863	0.2014	M	0.66939	2.045	0.38321	D	0.943524	D;D	0.63880	0.993;0.993	D;D	0.72982	0.979;0.979	T	0.58216	-0.7675	10	0.72032	D	0.01	-32.4626	1.1524	0.01789	0.1586:0.223:0.1187:0.4997	.	417;417	A4D0U1;O00458	.;IFRD1_HUMAN	M	417;417;152;367;80	ENSP00000005558:I417M;ENSP00000384477:I417M;ENSP00000439188:I367M;ENSP00000435635:I80M	ENSP00000005558:I417M	I	+	3	3	IFRD1	111900137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.651000	0.24873	0.129000	0.18514	0.519000	0.50382	ATT		0.373	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		43	375	0	0	0	1	0	43	375				
CAMSAP1	157922	broad.mit.edu	37	9	138714511	138714511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714511C>T	ENST00000389532.4	-	11	2060	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	666					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTCCTGTCTCGGTGGGGTCG	0.582																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1996-1998)Gag>Aag		calmodulin regulated spectrin-associated protein 1							47.0	50.0	49.0					9																	138714511		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714511C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1996G>A	9.37:g.138714511C>T	ENSP00000374183:p.Glu666Lys					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K	p.E666K	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2060	-			666					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1996G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304212	0.60305	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14640	2.5;2.49;2.5	5.17	5.17	0.71159	.	1.161590	0.06569	N	0.748121	T	0.12774	0.0310	N	0.22421	0.69	0.51233	D	0.999914	P;P	0.48230	0.85;0.907	B;B	0.34652	0.125;0.187	T	0.47947	-0.9077	10	0.87932	D	0	-4.9181	18.6807	0.91545	0.0:1.0:0.0:0.0	.	666;677	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	K	666;388;677	ENSP00000374183:E666K;ENSP00000312463:E388K;ENSP00000386420:E677K	ENSP00000312463:E388K	E	-	1	0	CAMSAP1	137854332	0.998000	0.40836	0.191000	0.23289	0.004000	0.04260	5.019000	0.64060	2.403000	0.81681	0.655000	0.94253	GAG		0.582	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		38	163	0	0	0	1	0	38	163				
IFT46	56912	broad.mit.edu	37	11	118428591	118428591	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118428591G>A	ENST00000264021.3	-	4	464				IFT46_ENST00000264020.2_Silent_p.G20G|IFT46_ENST00000530872.1_Silent_p.G20G|IFT46_ENST00000527868.1_5'Flank	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46						cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CCTGTGGCATGCCCTCCCTTA	0.498																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(58-60)ggC>ggT		intraflagellar transport 46 homolog (Chlamydomonas)							167.0	164.0	165.0					11																	118428591		2200	4295	6495	SO:0001627	intron_variant	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118428591G>A	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.46-831C>T	11.37:g.118428591G>A						IFT46_ENST00000264021.3_Intron|IFT46_ENST00000530872.1_Silent_p.G20G	p.G20G	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			4	437	-			15					A8K0F6|Q9H6V5	Silent	SNP	ENST00000264021.3	37	c.60C>T	CCDS53718.1																																																																																				0.498	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		172	766	0	0	0	1	0	172	766				
ELOF1	84337	broad.mit.edu	37	19	11664626	11664626	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11664626C>A	ENST00000252445.3	-	4	251		c.e4-1		ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000591674.1_Splice_Site|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000589171.1_Missense_Mutation_p.Q64H|ELOF1_ENST00000591912.1_3'UTR	NM_032377.3	NP_115753.1	P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.?(1)		endometrium(3)|lung(2)	5						TCTGACAGATCTGGGCCACTT	0.597																																						ENST00000589171.1																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(3)|lung(2)	5						c.(190-192)caG>caT		elongation factor 1 homolog (S. cerevisiae)							93.0	86.0	88.0					19																	11664626		2203	4300	6503	SO:0001630	splice_region_variant	84337				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr19:11664626C>A	AK001171	CCDS12264.1	19p13.2	2008-02-05	2006-02-13			ENSG00000130165			28691	protein-coding gene	gene with protein product			"""elongation factor 1 homolog (ELF1, S. cerevisiae)"""			12477932	Standard	NM_032377		Approved	MGC4549, ELF1	uc002mse.1	P60002		ENST00000252445.3:c.188-1G>T	19.37:g.11664626C>A						ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000252445.3_Splice_Site|ELOF1_ENST00000591674.1_Splice_Site|ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000586683.1_Intron	p.Q64H			P60002	ELOF1_HUMAN			4	388	-			0					Q8R1J7|Q96II4	Missense_Mutation	SNP	ENST00000252445.3	37	c.192G>T	CCDS12264.1	.	.	.	.	.	.	.	.	.	.	C	5.541	0.284702	0.10513	.	.	ENSG00000130165	ENST00000252445	.	.	.	4.9	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2736	0.15638	0.162:0.6613:0.0:0.1767	.	.	.	.	.	-1	.	.	.	-	.	.	ELOF1	11525626	1.000000	0.71417	0.719000	0.30619	0.003000	0.03518	5.084000	0.64462	0.122000	0.18314	-0.277000	0.10078	.		0.597	ELOF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458868.1	NM_032377	Intron	82	317	1	0	4.64247e-43	1	5.66271e-43	82	317				
VPS13A	23230	broad.mit.edu	37	9	79841408	79841408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79841408C>T	ENST00000360280.3	+	15	1511	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	VPS13A_ENST00000376636.3_Silent_p.Y417Y|VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000357409.5_Silent_p.Y417Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	417					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						ACAAAATTTACAAAGAAGGAG	0.318																																						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.(1249-1251)taC>taT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							79.0	85.0	83.0					9																	79841408		2203	4300	6503	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79841408C>T	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.1251C>T	9.37:g.79841408C>T						VPS13A_ENST00000376636.3_Silent_p.Y417Y|VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000357409.5_Silent_p.Y417Y	p.Y417Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			15	1511	+			417					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.1251C>T	CCDS6655.1																																																																																				0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		42	228	0	0	0	1	0	42	228				
PDP1	54704	broad.mit.edu	37	8	94935002	94935002	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935002G>T	ENST00000297598.4	+	2	984	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000520728.1_Missense_Mutation_p.A239S|PDP1_ENST00000396200.3_Missense_Mutation_p.A264S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	239					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTAATTAATGCCTTCAAGAG	0.433																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(790-792)Gcc>Tcc		pyruvate dehyrogenase phosphatase catalytic subunit 1							120.0	121.0	121.0					8																	94935002		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935002G>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.715G>T	8.37:g.94935002G>T	ENSP00000297598:p.Ala239Ser					PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000297598.4_Missense_Mutation_p.A239S|PDP1_ENST00000520728.1_Missense_Mutation_p.A239S	p.A264S	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1066	+			239					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.790G>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732938	0.30684	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.16	6.16	0.99307	Protein phosphatase 2C-like (5);	0.158082	0.56097	D	0.000028	T	0.18882	0.0453	L	0.43646	1.37	0.80722	D	1	B;B	0.31459	0.324;0.212	B;B	0.34873	0.191;0.191	T	0.02004	-1.1231	10	0.30078	T	0.28	-9.2349	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	290;239	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	239;239;264;239	ENSP00000297598:A239S;ENSP00000428317:A239S;ENSP00000379503:A264S;ENSP00000430380:A239S	ENSP00000297598:A239S	A	+	1	0	PDP1	95004178	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.614000	0.74197	2.937000	0.99478	0.650000	0.86243	GCC		0.433	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		107	420	1	0	3.77761e-39	1	4.56358e-39	107	420				
MAVS	57506	broad.mit.edu	37	20	3841982	3841982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3841982C>T	ENST00000428216.2	+	4	424	c.296C>T	c.(295-297)aCc>aTc	p.T99I	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	99					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCTAGGGACCTCGGACCGT	0.607																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(295-297)aCc>aTc		mitochondrial antiviral signaling protein							73.0	67.0	69.0					20																	3841982		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3841982C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.296C>T	20.37:g.3841982C>T	ENSP00000401980:p.Thr99Ile					MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	p.T99I	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			4	424	+			99					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.296C>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996648	0.19043	.	.	ENSG00000088888	ENST00000428216	T	0.12984	2.63	3.55	-7.11	0.01542	.	2.099370	0.02440	N	0.084452	T	0.09905	0.0243	L	0.44542	1.39	0.09310	N	0.999999	B	0.34241	0.444	B	0.32090	0.14	T	0.06826	-1.0805	10	0.48119	T	0.1	6.6292	2.2226	0.03976	0.515:0.1266:0.1899:0.1685	.	99	Q7Z434	MAVS_HUMAN	I	99	ENSP00000401980:T99I	ENSP00000401980:T99I	T	+	2	0	MAVS	3789982	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.457000	0.01001	-2.885000	0.00317	0.591000	0.81541	ACC		0.607	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		75	405	0	0	0	1	0	75	405				
PARK2	5071	broad.mit.edu	37	6	162622162	162622162	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162622162C>T	ENST00000366898.1	-	4	637		c.e4+1		PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366892.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CATTTCCTTACCTGGGTCAAG	0.468																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.e4+1		parkin RBR E3 ubiquitin protein ligase							103.0	92.0	95.0					6																	162622162		2203	4300	6503	SO:0001630	splice_region_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622162C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.534+1G>A	6.37:g.162622162C>T						PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000366894.1_Splice_Site		NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	637	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)						A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	ENST00000366898.1	37		CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248666	0.80024	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3813	0.74658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	162542152	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.883000	0.56168	2.688000	0.91661	0.643000	0.83706	.		0.468	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		Intron	68	276	0	0	0	1	0	68	276				
ATRIP	84126	broad.mit.edu	37	3	48495698	48495698	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48495698A>C	ENST00000320211.3	+	4	665		c.e4-1		ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000412052.1_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein						DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGCCTTCCAGCTCCAATCA	0.393								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.e4-1	Other conserved DNA damage response genes	ATR interacting protein							137.0	143.0	141.0					3																	48495698		2203	4300	6503	SO:0001630	splice_region_variant	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48495698A>C	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.553-1A>C	3.37:g.48495698A>C						ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000320211.3_Splice_Site|ATRIP_ENST00000346691.4_Splice_Site		NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	735	+								A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Splice_Site	SNP	ENST00000320211.3	37		CCDS2768.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815203	0.70912	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.136	0.65289	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRIP	48470702	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.099000	0.76981	2.222000	0.72286	0.533000	0.62120	.		0.393	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384	Intron	111	685	0	0	0	1	0	111	685				
PIK3CD	5293	broad.mit.edu	37	1	9782362	9782362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9782362C>T	ENST00000377346.4	+	18	2490	c.2295C>T	c.(2293-2295)aaC>aaT	p.N765N	PIK3CD_ENST00000536656.1_Silent_p.N789N|PIK3CD_ENST00000361110.2_Silent_p.N789N	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	765					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TGTACAGCAACGAGGAGGCAG	0.647																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2365-2367)aaC>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							35.0	35.0	35.0					1																	9782362		2202	4300	6502	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9782362C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2295C>T	1.37:g.9782362C>T						PIK3CD_ENST00000361110.2_Silent_p.N789N|PIK3CD_ENST00000377346.4_Silent_p.N765N	p.N789N			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	18	2575	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	765			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2367C>T	CCDS104.1																																																																																				0.647	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		5	110	0	0	0	1	0	5	110				
ZFHX4	79776	broad.mit.edu	37	8	77618747	77618747	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618747T>C	ENST00000521891.2	+	2	2872	c.2424T>C	c.(2422-2424)aaT>aaC	p.N808N	ZFHX4_ENST00000455469.2_Silent_p.N808N|ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	808					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAGCATAATCTGCACTTGG	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2422-2424)aaT>aaC		zinc finger homeobox 4							26.0	27.0	27.0					8																	77618747		2051	4205	6256	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618747T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2424T>C	8.37:g.77618747T>C		HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000455469.2_Silent_p.N808N	p.N808N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2872	+			808					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.2424T>C	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	85	0	0	0	1	0	16	85				
FER	2241	broad.mit.edu	37	5	108294941	108294941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108294941G>A	ENST00000281092.4	+	13	1933	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E342K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	517	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTATCGATTCGAGGGCACTGG	0.343																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1549-1551)Gag>Aag		fer (fps/fes related) tyrosine kinase							121.0	116.0	118.0					5																	108294941		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108294941G>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1549G>A	5.37:g.108294941G>A	ENSP00000281092:p.Glu517Lys					FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E342K	p.E517K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	13	1933	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	517			SH2.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1549G>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588898	0.96590	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.63255	-0.03;-0.03	6.07	6.07	0.98685	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78404	-0.2217	10	0.72032	D	0.01	-23.2857	20.6593	0.99626	0.0:0.0:1.0:0.0	.	517	P16591	FER_HUMAN	K	517;342	ENSP00000281092:E517K;ENSP00000394297:E342K	ENSP00000281092:E517K	E	+	1	0	FER	108322840	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		0.343	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		59	255	0	0	0	1	0	59	255				
ARHGAP24	83478	broad.mit.edu	37	4	86916302	86916302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86916302C>T	ENST00000395184.1	+	9	1961	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*|ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	499					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.R406*(1)|p.R499*(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAAATGTTCGAAACATGAG	0.507																																						ENST00000395184.1																			2	Substitution - Nonsense(2)	p.R406*(1)|p.R499*(1)	endometrium(2)	breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1495-1497)Cga>Tga		Rho GTPase activating protein 24							119.0	111.0	113.0					4																	86916302		2203	4300	6503	SO:0001587	stop_gained	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916302C>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1495C>T	4.37:g.86916302C>T	ENSP00000378611:p.Arg499*					ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*|ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*	p.R499*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1961	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	499					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Nonsense_Mutation	SNP	ENST00000395184.1	37	c.1495C>T	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.547352	0.98352	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	.	.	.	5.87	4.01	0.46588	.	0.171377	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6745	0.68969	0.2643:0.7357:0.0:0.0	.	.	.	.	X	499;404;414;406	.	ENSP00000264343:R406X	R	+	1	2	ARHGAP24	87135326	0.634000	0.27190	0.237000	0.24090	0.097000	0.18754	1.293000	0.33353	1.443000	0.47586	0.591000	0.81541	CGA		0.507	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		86	356	0	0	0	1	0	86	356				
MYH7	4625	broad.mit.edu	37	14	23895007	23895007	+	Missense_Mutation	SNP	G	G	A	rs121913644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895007G>A	ENST00000355349.3	-	20	2345	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	728	Myosin motor.		A -> V (in CMH1; in cis with M-606 gives a more severe phenotype). {ECO:0000269|PubMed:11424919}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGATGGCCGCTGGGTTCAG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20584	0.0		0.0	False		,,,				2504	0.001					ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM011799	MYH7	M	rs121913644	c.(2182-2184)gCg>gTg		myosin, heavy chain 7, cardiac muscle, beta		G	VAL/ALA	1,4405		0,1,2202	97.0	83.0	87.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2183	4.9	1.0	14	dbSNP_133	87	2,8598	2.2+/-6.3	0,2,4298	no	missense	MYH7	NM_000257.2	64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	728/1936	23895007	3,13003	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23895007G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2183C>T	14.37:g.23895007G>A	ENSP00000347507:p.Ala728Val						p.A728V	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	20	2345	-	all_cancers(95;2.54e-05)		728		A -> V (in CMH1; in cis with M-606 gives a more severe phenotype).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2183C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983202	0.53827	2.27E-4	2.33E-4	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87103	-2.21	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.86527	0.5954	M	0.69248	2.105	0.40086	D	0.976191	B	0.12013	0.005	B	0.19946	0.027	D	0.84935	0.0862	9	0.66056	D	0.02	.	15.4006	0.74838	0.0:0.139:0.861:0.0	.	728	P12883	MYH7_HUMAN	V	728	ENSP00000347507:A728V	ENSP00000347507:A728V	A	-	2	0	MYH7	22964847	0.004000	0.15560	0.988000	0.46212	0.917000	0.54804	1.385000	0.34408	2.531000	0.85337	0.655000	0.94253	GCG		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		61	280	0	0	0	1	0	61	280				
ZNF304	57343	broad.mit.edu	37	19	57868033	57868033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868033C>A	ENST00000282286.5	+	3	969	c.796C>A	c.(796-798)Ctt>Att	p.L266I	ZNF304_ENST00000391705.3_Missense_Mutation_p.L266I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I|ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAAATCAGCTCTTATTAATCA	0.433																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(796-798)Ctt>Att		zinc finger protein 304							91.0	89.0	90.0					19																	57868033		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868033C>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.796C>A	19.37:g.57868033C>A	ENSP00000282286:p.Leu266Ile					ZNF304_ENST00000282286.5_Missense_Mutation_p.L266I|ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I	p.L266I	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1080	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	266						Missense_Mutation	SNP	ENST00000282286.5	37	c.796C>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.307999	0.40895	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.27104	1.69;1.69;1.69	3.7	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38983	0.1061	M	0.89534	3.04	0.09310	N	1	B;B	0.12630	0.006;0.005	B;B	0.25140	0.058;0.015	T	0.42515	-0.9447	9	0.72032	D	0.01	.	10.8293	0.46650	0.0:0.9012:0.0:0.0988	.	266;313	Q9HCX3;E7EQD3	ZN304_HUMAN;.	I	266;266;313	ENSP00000282286:L266I;ENSP00000375586:L266I;ENSP00000401642:L313I	ENSP00000282286:L266I	L	+	1	0	ZNF304	62559845	0.000000	0.05858	0.008000	0.14137	0.578000	0.36192	-0.166000	0.09954	1.150000	0.42419	0.454000	0.30748	CTT		0.433	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			61	325	1	0	2.2129e-31	1	2.60483e-31	61	325				
USH2A	7399	broad.mit.edu	37	1	216243446	216243446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216243446T>C	ENST00000307340.3	-	30	6432	c.6046A>G	c.(6046-6048)Aca>Gca	p.T2016A	USH2A_ENST00000366943.2_Missense_Mutation_p.T2016A|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2016	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTTACCTGTGAGGTTGCTT	0.378										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6046-6048)Aca>Gca		Usher syndrome 2A (autosomal recessive, mild)							90.0	89.0	89.0					1																	216243446		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243446T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6046A>G	1.37:g.216243446T>C	ENSP00000305941:p.Thr2016Ala	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T2016A	p.T2016A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6432	-			2016			Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6046A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532906	0.45073	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58506	0.33;0.33	5.47	-1.0	0.10196	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.761040	0.10938	N	0.617623	T	0.46580	0.1400	M	0.64404	1.975	0.28700	N	0.904138	B	0.28128	0.201	B	0.28232	0.087	T	0.38650	-0.9651	10	0.17369	T	0.5	.	5.0131	0.14322	0.2222:0.1171:0.0:0.6607	.	2016	O75445	USH2A_HUMAN	A	2016	ENSP00000305941:T2016A;ENSP00000355910:T2016A	ENSP00000305941:T2016A	T	-	1	0	USH2A	214310069	0.991000	0.36638	0.014000	0.15608	0.206000	0.24218	1.313000	0.33585	-0.461000	0.06993	-0.479000	0.04858	ACA		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		42	237	0	0	0	1	0	42	237				
MORN3	283385	broad.mit.edu	37	12	122107335	122107335	+	Missense_Mutation	SNP	G	G	A	rs35779661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107335G>A	ENST00000355329.3	-	1	225	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	19						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TGGGCCTTCCGGTCCCACCCC	0.592																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(55-57)Cgg>Tgg		MORN repeat containing 3		G	TRP/ARG	0,4406		0,0,2203	127.0	111.0	117.0		55	2.3	0.4	12	dbSNP_126	117	8,8592	6.4+/-24.3	0,8,4292	yes	missense	MORN3	NM_173855.4	101	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	probably-damaging	19/241	122107335	8,12998	2203	4300	6503	SO:0001583	missense	283385							g.chr12:122107335G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.55C>T	12.37:g.122107335G>A	ENSP00000347486:p.Arg19Trp						p.R19W	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	225	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		19					Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.55C>T	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450955	0.43531	0.0	9.3E-4	ENSG00000139714	ENST00000355329	T	0.73363	-0.74	5.32	2.34	0.29019	.	1.198000	0.06160	N	0.675752	T	0.70945	0.3282	L	0.50333	1.59	0.32464	N	0.543759	D	0.56287	0.975	B	0.43809	0.432	T	0.65672	-0.6111	10	0.56958	D	0.05	.	8.2315	0.31601	0.0:0.1542:0.5267:0.3191	rs35779661	19	Q6PF18	MORN3_HUMAN	W	19	ENSP00000347486:R19W	ENSP00000347486:R19W	R	-	1	2	MORN3	120591718	0.599000	0.26891	0.356000	0.25785	0.892000	0.51952	0.652000	0.24888	0.268000	0.21939	0.462000	0.41574	CGG		0.592	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		115	571	0	0	0	1	0	115	571				
OR51M1	390059	broad.mit.edu	37	11	5411487	5411487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411487C>T	ENST00000328611.3	+	1	881	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	287					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCATCTTCTTATGGCCAA	0.498																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(859-861)Ctt>Ttt		olfactory receptor, family 51, subfamily M, member 1							60.0	53.0	55.0					11																	5411487		2010	4191	6201	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411487C>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.859C>T	11.37:g.5411487C>T	ENSP00000333196:p.Leu287Phe					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.L287F	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	881	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	287					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.859C>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837469	0.16891	.	.	ENSG00000184698	ENST00000328611	T	0.00152	8.66	5.24	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.646517	0.11717	U	0.536311	T	0.00144	0.0004	L	0.42581	1.335	0.21386	N	0.9997	B	0.18310	0.027	B	0.30316	0.114	T	0.16837	-1.0389	10	0.44086	T	0.13	.	6.9332	0.24453	0.0:0.5769:0.2697:0.1535	.	276	Q9H341	O51M1_HUMAN	F	287	ENSP00000333196:L287F	ENSP00000333196:L287F	L	+	1	0	OR51M1	5368063	0.000000	0.05858	0.454000	0.27019	0.617000	0.37484	-1.505000	0.02273	0.364000	0.24374	0.655000	0.94253	CTT		0.498	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		33	143	0	0	0	1	0	33	143				
CTSG	1511	broad.mit.edu	37	14	25044478	25044478	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25044478A>G	ENST00000216336.2	-	2	232	c.196T>C	c.(196-198)Tgg>Cgg	p.W66R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	66	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CACCTTCCCCAGCAATGAGCT	0.552																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(196-198)Tgg>Cgg		cathepsin G							86.0	79.0	81.0					14																	25044478		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25044478A>G	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.196T>C	14.37:g.25044478A>G	ENSP00000216336:p.Trp66Arg						p.W66R	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	2	232	-			66			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.196T>C	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828653	0.16749	.	.	ENSG00000100448	ENST00000216336	D	0.88431	-2.38	5.38	-3.44	0.04796	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.520840	0.04420	N	0.367522	T	0.75925	0.3916	N	0.12746	0.255	0.20196	N	0.999921	B	0.13594	0.008	B	0.22880	0.042	T	0.61496	-0.7051	10	0.25106	T	0.35	.	3.8901	0.09114	0.3929:0.0:0.3384:0.2687	.	66	P08311	CATG_HUMAN	R	66	ENSP00000216336:W66R	ENSP00000216336:W66R	W	-	1	0	CTSG	24114318	0.024000	0.19004	0.030000	0.17652	0.954000	0.61252	0.034000	0.13776	-0.535000	0.06307	-0.333000	0.08304	TGG		0.552	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		68	322	0	0	0	1	0	68	322				
KIF21A	55605	broad.mit.edu	37	12	39713771	39713771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39713771G>T	ENST00000361418.5	-	28	3731	c.3716C>A	c.(3715-3717)tCt>tAt	p.S1239Y	KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1226Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1239Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1239					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTTACAGGAGAAGGCTCTGG	0.338																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3715-3717)tCt>tAt		kinesin family member 21A							107.0	93.0	98.0					12																	39713771		2201	4300	6501	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39713771G>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3716C>A	12.37:g.39713771G>T	ENSP00000354878:p.Ser1239Tyr					KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1239Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1226Y	p.S1239Y			Q7Z4S6	KI21A_HUMAN			27	4135	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1239					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3716C>A	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.771470|4.771470	0.90108|0.90108	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.73363	.|-0.66;-0.67;0.1;-0.74;-0.56;-0.73	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.49916	.|D	.|0.000138	D|D	0.86826|0.86826	0.6026|0.6026	M|M	0.73962|0.73962	2.25|2.25	0.53688|0.53688	D|D	0.999974|0.999974	.|P;D;P;D;D;D	.|0.89917	.|0.946;0.978;0.952;0.978;1.0;1.0	.|P;P;P;P;D;D	.|0.78314	.|0.735;0.804;0.781;0.804;0.991;0.989	D|D	0.87375|0.87375	0.2353|0.2353	5|10	.|0.87932	.|D	.|0	.|.	19.9598|19.9598	0.97242|0.97242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1219;1203;1239;1226;1239;286	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	I|Y	587|1226;1239;1239;286;280;1219;1239;1203	.|ENSP00000354851:S1226Y;ENSP00000379029:S1239Y;ENSP00000448792:S280Y;ENSP00000445606:S1219Y;ENSP00000354878:S1239Y;ENSP00000438075:S1203Y	.|ENSP00000344501:S1239Y	L|S	-|-	1|2	0|0	KIF21A|KIF21A	38000038|38000038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.318000|8.318000	0.89990|0.89990	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		13	59	1	0	0.000151284	1	0.000153739	13	59				
CEP120	153241	broad.mit.edu	37	5	122718760	122718760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122718760C>T	ENST00000306467.5	-	12	2084	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	CEP120_ENST00000328236.5_Missense_Mutation_p.A594T|CEP120_ENST00000306481.6_Missense_Mutation_p.A568T			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	594					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAAGATCTGCTATCCTGTTA	0.279																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1780-1782)Gca>Aca		centrosomal protein 120kDa							39.0	39.0	39.0					5																	122718760		2196	4292	6488	SO:0001583	missense	153241					centrosome		g.chr5:122718760C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1780G>A	5.37:g.122718760C>T	ENSP00000303058:p.Ala594Thr					CEP120_ENST00000306481.6_Missense_Mutation_p.A568T|CEP120_ENST00000328236.5_Missense_Mutation_p.A594T	p.A594T			Q8N960	CE120_HUMAN			12	2084	-			594					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1780G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099312	0.56183	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.92	3.03	0.35002	.	0.473474	0.22445	N	0.059966	T	0.46483	0.1395	M	0.66939	2.045	0.80722	D	1	B	0.32893	0.389	B	0.34824	0.19	T	0.39921	-0.9590	10	0.56958	D	0.05	-7.3561	10.6681	0.45743	0.1186:0.8029:0.0:0.0785	.	594	Q8N960	CE120_HUMAN	T	594;594;568;568	ENSP00000303058:A594T;ENSP00000327504:A594T;ENSP00000307419:A568T;ENSP00000421620:A568T	ENSP00000303058:A594T	A	-	1	0	CEP120	122746659	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	0.883000	0.28200	0.292000	0.22492	0.650000	0.86243	GCA		0.279	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		22	103	0	0	0	1	0	22	103				
ZNF652	22834	broad.mit.edu	37	17	47376251	47376251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47376251T>G	ENST00000362063.2	-	6	1663	c.1345A>C	c.(1345-1347)Agc>Cgc	p.S449R	ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTGGTGAAGCTTTTGCCACAG	0.463																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1345-1347)Agc>Cgc		zinc finger protein 652							51.0	50.0	50.0					17																	47376251		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47376251T>G	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1345A>C	17.37:g.47376251T>G	ENSP00000354686:p.Ser449Arg					ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	p.S449R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		6	1663	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		449					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.1345A>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801187	0.70567	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08193	3.12;3.12	4.81	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.041428	0.85682	D	0.000000	T	0.12178	0.0296	N	0.25992	0.78	0.49915	D	0.999832	D	0.56746	0.977	P	0.59357	0.856	T	0.03566	-1.1024	10	0.51188	T	0.08	-15.5289	8.741	0.34558	0.0:0.157:0.0:0.843	.	449	Q9Y2D9	ZN652_HUMAN	R	449	ENSP00000354686:S449R;ENSP00000416305:S449R	ENSP00000354686:S449R	S	-	1	0	ZNF652	44731250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.847000	0.86896	0.351000	0.24027	0.402000	0.26972	AGC		0.463	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		58	197	0	0	0	1	0	58	197				
ABCC11	85320	broad.mit.edu	37	16	48221197	48221197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48221197C>T	ENST00000394747.1	-	20	3197	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T	ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	950	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AACAGGACGGCGATCACCATT	0.463																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(2848-2850)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							104.0	87.0	93.0					16																	48221197		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48221197C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2848G>A	16.37:g.48221197C>T	ENSP00000378230:p.Ala950Thr					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T	p.A950T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			20	3197	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	950			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2848G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700967	0.68501	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.0	-10.0	0.00425	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.985385	0.08272	N	0.971317	D	0.85678	0.5752	M	0.68317	2.08	0.09310	N	1	B;P	0.38020	0.098;0.615	B;B	0.40199	0.008;0.322	T	0.75311	-0.3362	10	0.33940	T	0.23	0.3528	6.9598	0.24591	0.2208:0.4704:0.0:0.3088	.	950;950	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	950	ENSP00000311326:A950T;ENSP00000349017:A950T;ENSP00000378231:A950T;ENSP00000378230:A950T	ENSP00000311326:A950T	A	-	1	0	ABCC11	46778698	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-2.090000	0.00859	0.563000	0.77884	GCC		0.463	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		43	263	0	0	0	1	0	43	263				
FAM227B	196951	broad.mit.edu	37	15	49860490	49860490	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49860490C>T	ENST00000299338.6	-	9	1002	c.699G>A	c.(697-699)gtG>gtA	p.V233V	FAM227B_ENST00000561064.1_Intron	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	233																	TGAAAAGTGTCACATAACTTT	0.284																																						ENST00000299338.6																			0											c.(697-699)gtG>gtA		family with sequence similarity 227, member B							70.0	67.0	68.0					15																	49860490		2194	4294	6488	SO:0001819	synonymous_variant	196951							g.chr15:49860490C>T		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.699G>A	15.37:g.49860490C>T						FAM227B_ENST00000561064.1_Intron	p.V233V	NM_152647.2	NP_689860.2					9	1002	-								Q86WS2	Silent	SNP	ENST00000299338.6	37	c.699G>A	CCDS32237.1																																																																																				0.284	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		31	146	0	0	0	1	0	31	146				
NBPF1	55672	broad.mit.edu	37	1	16902779	16902779	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16902779A>G	ENST00000430580.2	-	19	2989	c.2102T>C	c.(2101-2103)gTc>gCc	p.V701A	NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Missense_Mutation_p.V66A|NBPF1_ENST00000432949.1_Missense_Mutation_p.V159A	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	701				QLF -> HLV (in Ref. 2; BAB21784 and 3; AAH34418). {ECO:0000305}.		cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGCTTTTGGACAAGGTGCTG	0.567																																						ENST00000430580.2																			0											c.(2101-2103)gTc>gCc		neuroblastoma breakpoint family, member 1							130.0	144.0	139.0					1																	16902779		1510	2700	4210	SO:0001583	missense	55672					cytoplasm		g.chr1:16902779A>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2102T>C	1.37:g.16902779A>G	ENSP00000474456:p.Val701Ala					NBPF1_ENST00000287968.8_Missense_Mutation_p.V66A|NBPF1_ENST00000432949.1_Missense_Mutation_p.V159A	p.V701A	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2989	-			701	QLF -> HLV (in Ref. 2; BAB21784 and 3; AAH34418).				Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2102T>C																																																																																					0.567	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		34	2005	0	0	0	1	0	34	2005				
TMPRSS15	5651	broad.mit.edu	37	21	19666603	19666603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19666603C>T	ENST00000284885.3	-	21	2503	c.2470G>A	c.(2470-2472)Gca>Aca	p.A824T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	824	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACGCAGTGTGCGGCGGACACC	0.582																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2470-2472)Gca>Aca		transmembrane protease, serine 15							59.0	59.0	59.0					21																	19666603		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666603C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2470G>A	21.37:g.19666603C>T	ENSP00000284885:p.Ala824Thr						p.A824T	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2503	-			824			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2470G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207194	0.95033	.	.	ENSG00000154646	ENST00000284885	D	0.96940	-4.18	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99529	1.0960	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	824	P98073	ENTK_HUMAN	T	824	ENSP00000284885:A824T	.	A	-	1	0	TMPRSS15	18588474	1.000000	0.71417	0.957000	0.39632	0.964000	0.63967	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCA		0.582	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		60	331	0	0	0	1	0	60	331				
OR10H3	26532	broad.mit.edu	37	19	15852477	15852477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852477C>T	ENST00000305892.1	+	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ACCCATCGTTCCATCACCTTT	0.502																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(274-276)tCc>tTc		olfactory receptor, family 10, subfamily H, member 3							547.0	456.0	487.0					19																	15852477		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852477C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.275C>T	19.37:g.15852477C>T	ENSP00000307130:p.Ser92Phe						p.S92F	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	275	+			92					Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.275C>T	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	7.105	0.574859	0.13623	.	.	ENSG00000171936	ENST00000305892	T	0.00605	6.27	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.608641	0.13515	U	0.382145	T	0.01320	0.0043	M	0.69358	2.11	0.09310	N	1	P	0.49185	0.92	P	0.52909	0.713	T	0.48186	-0.9057	10	0.87932	D	0	.	6.3262	0.21244	0.2945:0.7055:0.0:0.0	.	92	O60404	O10H3_HUMAN	F	92	ENSP00000307130:S92F	ENSP00000307130:S92F	S	+	2	0	OR10H3	15713477	0.092000	0.21681	0.067000	0.19924	0.087000	0.18053	0.648000	0.24828	1.320000	0.45209	0.185000	0.17295	TCC		0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			319	1437	0	0	0	1	0	319	1437				
GEMIN6	79833	broad.mit.edu	37	2	39008821	39008821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39008821G>T	ENST00000281950.3	+	3	407	c.291G>T	c.(289-291)gaG>gaT	p.E97D	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	97					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				ACAGCCCAGAGGATCTGGAAG	0.493																																						ENST00000281950.2																			0				kidney(1)|large_intestine(3)|pancreas(1)	5						c.(289-291)gaG>gaT		gem (nuclear organelle) associated protein 6							89.0	76.0	81.0					2																	39008821		2203	4300	6503	SO:0001583	missense	79833				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr2:39008821G>T	AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.291G>T	2.37:g.39008821G>T	ENSP00000281950:p.Glu97Asp					GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	p.E97D	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN			3	407	+		all_hematologic(82;0.21)	97					B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	37	c.291G>T	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413864	0.42817	.	.	ENSG00000152147	ENST00000281950	T	0.52057	0.68	5.78	4.9	0.64082	.	0.096259	0.64402	D	0.000001	T	0.46151	0.1378	L	0.48362	1.52	0.80722	D	1	P	0.38745	0.645	P	0.44623	0.455	T	0.44251	-0.9340	10	0.49607	T	0.09	-23.839	8.9799	0.35959	0.2233:0.0:0.7767:0.0	.	97	Q8WXD5	GEMI6_HUMAN	D	97	ENSP00000281950:E97D	ENSP00000281950:E97D	E	+	3	2	GEMIN6	38862325	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	2.425000	0.44723	1.459000	0.47892	0.591000	0.81541	GAG		0.493	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			9	306	1	0	0.00448238	1	0.00451339	9	306				
IPO8	10526	broad.mit.edu	37	12	30823918	30823918	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30823918T>G	ENST00000256079.4	-	9	1360	c.1022A>C	c.(1021-1023)aAg>aCg	p.K341T	IPO8_ENST00000544829.1_Missense_Mutation_p.K136T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	341					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCATCTGCTTCCAGGTTAT	0.378																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1021-1023)aAg>aCg		importin 8							147.0	147.0	147.0					12																	30823918		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30823918T>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1022A>C	12.37:g.30823918T>G	ENSP00000256079:p.Lys341Thr					IPO8_ENST00000544829.1_Missense_Mutation_p.K136T	p.K341T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			9	1360	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		341					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1022A>C	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652669	0.67472	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.69175	-0.38;-0.38;-0.38	4.03	4.03	0.46877	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.048446	0.85682	D	0.000000	T	0.81380	0.4810	M	0.84948	2.725	0.51767	D	0.999938	D;D	0.89917	1.0;0.996	D;D	0.77557	0.99;0.984	T	0.81382	-0.0958	10	0.30078	T	0.28	-22.7694	13.3903	0.60821	0.0:0.0:0.0:1.0	.	136;341	B7Z7M3;O15397	.;IPO8_HUMAN	T	341;136;155	ENSP00000256079:K341T;ENSP00000444520:K136T;ENSP00000439556:K155T	ENSP00000256079:K341T	K	-	2	0	IPO8	30715185	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.751000	0.62169	1.811000	0.52892	0.477000	0.44152	AAG		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		116	480	0	0	0	1	0	116	480				
SLC6A17	388662	broad.mit.edu	37	1	110738297	110738297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110738297G>A	ENST00000331565.4	+	10	2067	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	528					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGACTACTCGGCCACCCTGCC	0.532																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1582-1584)Gcc>Acc		solute carrier family 6 (neutral amino acid transporter), member 17							105.0	87.0	93.0					1																	110738297		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110738297G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1582G>A	1.37:g.110738297G>A	ENSP00000330199:p.Ala528Thr						p.A528T	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	10	2067	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	528					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1582G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909396	0.97093	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77877	-1.13	5.65	5.65	0.86999	.	0.102844	0.64402	D	0.000002	D	0.87366	0.6159	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88080	0.2806	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	528	Q9H1V8	S6A17_HUMAN	T	528	ENSP00000330199:A528T	ENSP00000330199:A528T	A	+	1	0	SLC6A17	110539820	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	GCC		0.532	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		14	301	0	0	0	1	0	14	301				
CDH20	28316	broad.mit.edu	37	18	59217362	59217362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59217362C>T	ENST00000262717.4	+	11	2198	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	CDH20_ENST00000538374.1_Silent_p.D600D|CDH20_ENST00000536675.2_Silent_p.D600D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	600	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGATGACGACGGCCACGTCA	0.587																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(1798-1800)gaC>gaT		cadherin 20, type 2							72.0	52.0	59.0					18																	59217362		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59217362C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1800C>T	18.37:g.59217362C>T						CDH20_ENST00000536675.2_Silent_p.D600D|CDH20_ENST00000538374.1_Silent_p.D600D	p.D600D			Q9HBT6	CAD20_HUMAN			11	2198	+		Colorectal(73;0.186)	600			Cadherin 5.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.1800C>T	CCDS11977.1																																																																																				0.587	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		55	228	0	0	0	1	0	55	228				
ACOT7	11332	broad.mit.edu	37	1	6324691	6324691	+	Missense_Mutation	SNP	G	G	A	rs578211150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6324691G>A	ENST00000377855.2	-	9	1255	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	ACOT7_ENST00000608083.1_Missense_Mutation_p.A328V|ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V|ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V|ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000361521.4_Missense_Mutation_p.A360V	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	370					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CTGTCGCTTCGCCTTCATCTG	0.622																																					GBM(74;673 1226 4974 11850 13190)	ENST00000361521.4																			0				kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16						c.(1078-1080)gCg>gTg		acyl-CoA thioesterase 7							200.0	140.0	160.0					1																	6324691		2201	4299	6500	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6324691G>A	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.1109C>T	1.37:g.6324691G>A	ENSP00000367086:p.Ala370Val					ACOT7_ENST00000377855.2_Missense_Mutation_p.A370V|ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V|ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V	p.A360V	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	9	2070	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	370					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.1079C>T	CCDS65.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800147	0.90538	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.991	P;P;P;P	0.58820	0.551;0.458;0.846;0.562	T	0.53528	-0.8426	10	0.33940	T	0.23	.	15.1435	0.72630	0.0:0.0:1.0:0.0	.	360;370;340;319	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	V	370;340;319;360;255	ENSP00000367086:A370V;ENSP00000367076:A340V;ENSP00000367073:A319V;ENSP00000354615:A360V;ENSP00000439218:A255V	ENSP00000354615:A360V	A	-	2	0	ACOT7	6247278	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	5.861000	0.69553	2.647000	0.89833	0.563000	0.77884	GCG		0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		20	130	0	0	0	1	0	20	130				
OR5M10	390167	broad.mit.edu	37	11	56344805	56344805	+	Silent	SNP	A	A	G	rs370177204		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56344805A>G	ENST00000526812.2	-	1	458	c.393T>C	c.(391-393)caT>caC	p.H131H		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGGAACTGTAATGTAAAGGGC	0.458																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(391-393)caT>caC		olfactory receptor, family 5, subfamily M, member 10		A		1,4005		0,1,2002	180.0	167.0	171.0		393	-4.8	0.0	11		171	0,8374		0,0,4187	no	coding-synonymous	OR5M10	NM_001004741.1		0,1,6189	GG,GA,AA		0.0,0.025,0.0081		131/316	56344805	1,12379	2003	4187	6190	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344805A>G	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.393T>C	11.37:g.56344805A>G							p.H131H	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	458	-			131					B9EIL9	Silent	SNP	ENST00000526812.2	37	c.393T>C	CCDS53630.1																																																																																				0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		92	339	0	0	0	1	0	92	339				
STX7	8417	broad.mit.edu	37	6	132792628	132792628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132792628G>A	ENST00000367941.2	-	5	474	c.361C>T	c.(361-363)Cga>Tga	p.R121*	STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	121					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCTCTTACTCGAGCAACAAAC	0.428																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(361-363)Cga>Tga		syntaxin 7							143.0	136.0	138.0					6																	132792628		2203	4300	6503	SO:0001587	stop_gained	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132792628G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.361C>T	6.37:g.132792628G>A	ENSP00000356918:p.Arg121*					STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*	p.R121*	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	5	474	-	Breast(56;0.0615)		121					E1P579|Q5SZW2|Q96ES9	Nonsense_Mutation	SNP	ENST00000367941.2	37	c.361C>T	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	36	5.875587	0.97055	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	.	.	.	5.93	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5279	7.0116	0.24865	0.0891:0.0:0.5468:0.3641	.	.	.	.	X	121;121;76;121	.	ENSP00000309600:R76X	R	-	1	2	STX7	132834321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.256000	0.51492	1.516000	0.48900	0.655000	0.94253	CGA		0.428	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			15	546	0	0	0	1	0	15	546				
ANO5	203859	broad.mit.edu	37	11	22225378	22225378	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22225378C>T	ENST00000324559.8	+	2	386	c.69C>T	c.(67-69)taC>taT	p.Y23Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	23					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATAGACTACTCTTTCCAAA	0.279																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(67-69)taC>taT		anoctamin 5							33.0	34.0	34.0					11																	22225378		2163	4255	6418	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22225378C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.69C>T	11.37:g.22225378C>T							p.Y23Y	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			2	386	+			23						Silent	SNP	ENST00000324559.8	37	c.69C>T	CCDS31444.1																																																																																				0.279	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		6	61	0	0	0	1	0	6	61				
MYH15	22989	broad.mit.edu	37	3	108214643	108214643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214643T>C	ENST00000273353.3	-	8	811	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	252	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGAGGAGTTGTCATTTCTCAG	0.348																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(754-756)gAc>gGc		myosin, heavy chain 15							128.0	115.0	119.0					3																	108214643		1862	4090	5952	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108214643T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.755A>G	3.37:g.108214643T>C	ENSP00000273353:p.Asp252Gly						p.D252G	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			8	811	-			252			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.755A>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408928	0.83340	.	.	ENSG00000144821	ENST00000273353	D	0.88975	-2.45	5.03	5.03	0.67393	Myosin head, motor domain (3);	.	.	.	.	D	0.97090	0.9049	H	0.99368	4.535	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.98720	1.0708	9	0.87932	D	0	.	14.7471	0.69496	0.0:0.0:0.0:1.0	.	252	Q9Y2K3	MYH15_HUMAN	G	252	ENSP00000273353:D252G	ENSP00000273353:D252G	D	-	2	0	MYH15	109697333	1.000000	0.71417	0.717000	0.30585	0.983000	0.72400	3.912000	0.56386	2.027000	0.59764	0.533000	0.62120	GAC		0.348	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		17	102	0	0	0	1	0	17	102				
TAF1L	138474	broad.mit.edu	37	9	32633981	32633981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32633981G>A	ENST00000242310.4	-	1	1686	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	533					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCATCAGGAATTTCCAAA	0.483																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1597-1599)Cct>Tct		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							136.0	134.0	135.0					9																	32633981		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633981G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1597C>T	9.37:g.32633981G>A	ENSP00000418379:p.Pro533Ser					RP11-555J4.4_ENST00000430787.1_RNA	p.P533S	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1686	-			533					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1597C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937368	0.73557	.	.	ENSG00000122728	ENST00000242310	T	0.09350	2.99	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.76838	2.35	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.01771	-1.1277	10	0.66056	D	0.02	.	8.1579	0.31180	0.0:0.0:1.0:0.0	.	533	Q8IZX4	TAF1L_HUMAN	S	533	ENSP00000418379:P533S	ENSP00000418379:P533S	P	-	1	0	TAF1L	32623981	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	2.187000	0.42602	0.507000	0.28148	0.195000	0.17529	CCT		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			117	614	0	0	0	1	0	117	614				
PCDHGA4	56111	broad.mit.edu	37	5	140735709	140735709	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140735709C>T	ENST00000571252.1	+	1	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGGATTCTATGACATAG	0.438																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(940-942)ttC>ttT									51.0	50.0	50.0					5																	140735709		1853	4103	5956	SO:0001819	synonymous_variant	0							g.chr5:140735709C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.942C>T	5.37:g.140735709C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.F314F	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	942	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.942C>T	CCDS58979.1																																																																																				0.438	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		29	87	0	0	0	1	0	29	87				
SYNGAP1	8831	broad.mit.edu	37	6	33391298	33391298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33391298C>T	ENST00000418600.2	+	2	213	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	38					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGTTCATTCCCCGTATGATCG	0.542																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(112-114)Ccg>Tcg		synaptic Ras GTPase activating protein 1							251.0	217.0	229.0					6																	33391298		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33391298C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.112C>T	6.37:g.33391298C>T	ENSP00000403636:p.Pro38Ser					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S	p.P38S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			2	213	+			38					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.112C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612820	0.46631	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.17213	2.29;2.38	3.73	3.73	0.42828	Pleckstrin homology domain (1);	0.324033	0.23633	N	0.046106	T	0.19604	0.0471	L	0.38838	1.175	0.32577	N	0.528992	P;P;B	0.51449	0.909;0.945;0.01	P;D;B	0.67900	0.901;0.954;0.004	T	0.01081	-1.1458	10	0.87932	D	0	.	13.4332	0.61068	0.0:1.0:0.0:0.0	.	38;38;38	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	S	38	ENSP00000293748:P38S;ENSP00000403636:P38S	ENSP00000293748:P38S	P	+	1	0	SYNGAP1	33499276	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.310000	0.59141	2.098000	0.63641	0.555000	0.69702	CCG		0.542	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		125	595	0	0	0	1	0	125	595				
GPAT2	150763	broad.mit.edu	37	2	96691710	96691710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96691710C>A	ENST00000434632.1	-	13	1665	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D|GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D|GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	402					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAGTAGCTGCTCCAGGGTCT	0.617																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1204-1206)gaG>gaT		glycerol-3-phosphate acyltransferase 2, mitochondrial							33.0	33.0	33.0					2																	96691710		1977	4159	6136	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96691710C>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1206G>T	2.37:g.96691710C>A	ENSP00000389395:p.Glu402Asp					GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D|GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D|GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D	p.E402D			Q6NUI2	GPAT2_HUMAN			13	1665	-			402					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1206G>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	17.06	3.293477	0.60086	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.80214	-1.35;-1.35;-0.39;-1.34	4.7	1.81	0.25067	.	0.065530	0.64402	D	0.000008	D	0.83156	0.5193	M	0.65498	2.005	0.29525	N	0.853173	D;D;D;D;P	0.69078	0.971;0.997;0.991;0.997;0.565	P;P;P;P;P	0.61201	0.79;0.885;0.798;0.885;0.569	T	0.75803	-0.3189	10	0.40728	T	0.16	-15.498	5.8985	0.18953	0.0:0.6541:0.0:0.3459	.	331;402;402;402;331	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	D	402;402;331;402	ENSP00000352547:E402D;ENSP00000389395:E402D;ENSP00000393770:E331D;ENSP00000366341:E402D	ENSP00000352547:E402D	E	-	3	2	GPAT2	96055437	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.403000	0.34612	0.383000	0.24910	0.557000	0.71058	GAG		0.617	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		57	228	1	0	1.88225e-35	1	2.24767e-35	57	228				
PCDHA2	56146	broad.mit.edu	37	5	140175828	140175828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175828G>A	ENST00000526136.1	+	1	1279	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCACGGGACGG	0.632																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1279-1281)Gca>Aca									101.0	96.0	98.0					5																	140175828		2203	4300	6503	SO:0001583	missense	0							g.chr5:140175828G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1279G>A	5.37:g.140175828G>A	ENSP00000431748:p.Ala427Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T	p.A427T	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1279	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1279G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	18.42	3.620473	0.66787	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.71341	-0.56;-0.56;-0.56	3.98	3.98	0.46160	Cadherin (5);Cadherin-like (1);	0.000000	0.39475	U	0.001346	D	0.89441	0.6716	H	0.98525	4.255	0.44247	D	0.997095	D;D;D	0.76494	0.993;0.996;0.999	P;P;D	0.63793	0.867;0.884;0.918	D	0.94032	0.7302	10	0.72032	D	0.01	.	16.4215	0.83760	0.0:0.0:1.0:0.0	.	427;427;427	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	427	ENSP00000430584:A427T;ENSP00000367372:A427T;ENSP00000431748:A427T	ENSP00000367372:A427T	A	+	1	0	PCDHA2	140156012	1.000000	0.71417	0.094000	0.20943	0.237000	0.25408	9.665000	0.98609	1.920000	0.55613	0.650000	0.86243	GCA		0.632	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		171	717	0	0	0	1	0	171	717				
ZNF132	7691	broad.mit.edu	37	19	58945235	58945235	+	Missense_Mutation	SNP	G	G	A	rs142712450		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945235G>A	ENST00000254166.3	-	3	1976	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTGGAGCTGCGGCTGAAGGAT	0.498																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1576-1578)Cgc>Tgc		zinc finger protein 132		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	78.0	78.0		1576	1.4	0.9	19	dbSNP_134	78	0,8600		0,0,4300	no	missense	ZNF132	NM_003433.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	526/707	58945235	1,13005	2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945235G>A	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1576C>T	19.37:g.58945235G>A	ENSP00000254166:p.Arg526Cys						p.R526C	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1976	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	526					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1576C>T	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745748	0.30955	2.27E-4	0.0	ENSG00000131849	ENST00000254166	T	0.07567	3.18	3.57	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	L	0.31804	0.96	0.09310	N	1	B	0.24721	0.11	B	0.16289	0.015	T	0.39820	-0.9595	9	0.33141	T	0.24	.	6.1092	0.20092	0.3513:0.0:0.6487:0.0	.	526	P52740	ZN132_HUMAN	C	526	ENSP00000254166:R526C	ENSP00000254166:R526C	R	-	1	0	ZNF132	63637047	0.000000	0.05858	0.941000	0.38009	0.994000	0.84299	-2.749000	0.00793	0.146000	0.19002	0.655000	0.94253	CGC		0.498	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		62	243	0	0	0	1	0	62	243				
WEE2	494551	broad.mit.edu	37	7	141416030	141416030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141416030C>T	ENST00000397541.2	+	3	954	c.548C>T	c.(547-549)gCt>gTt	p.A183V	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	183					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGTGAGGAAGCTGGTCCAGAG	0.393																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(547-549)gCt>gTt		WEE1 homolog 2 (S. pombe)							101.0	98.0	99.0					7																	141416030		1912	4104	6016	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141416030C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.548C>T	7.37:g.141416030C>T	ENSP00000380675:p.Ala183Val					WEE2-AS1_ENST00000488785.1_RNA	p.A183V	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			3	954	+	Melanoma(164;0.0171)		183						Missense_Mutation	SNP	ENST00000397541.2	37	c.548C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.674752	0.47781	.	.	ENSG00000214102	ENST00000397541	T	0.23552	1.9	4.01	2.18	0.27775	.	11.907100	0.01046	U	0.004386	T	0.29288	0.0729	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.18713	-1.0328	10	0.42905	T	0.14	.	6.6502	0.22957	0.0:0.78:0.0:0.22	.	183	P0C1S8	WEE2_HUMAN	V	183	ENSP00000380675:A183V	ENSP00000380675:A183V	A	+	2	0	WEE2	141062499	0.047000	0.20315	0.013000	0.15412	0.928000	0.56348	1.146000	0.31589	0.461000	0.27071	0.556000	0.70494	GCT		0.393	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		86	431	0	0	0	1	0	86	431				
PKHD1L1	93035	broad.mit.edu	37	8	110509385	110509385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509385G>T	ENST00000378402.5	+	65	10587	c.10483G>T	c.(10483-10485)Gag>Tag	p.E3495*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3495					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGACCACAGAGAGTGTGCA	0.328										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10483-10485)Gag>Tag		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							119.0	111.0	113.0					8																	110509385		1840	4097	5937	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509385G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10483G>T	8.37:g.110509385G>T	ENSP00000367655:p.Glu3495*	HNSCC(38;0.096)					p.E3495*	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		65	10587	+			3495					Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.10483G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	37	6.553308	0.97658	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	6.02	6.02	0.97574	.	0.109197	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	.	.	.	X	3495;423	.	ENSP00000367655:E3495X	E	+	1	0	PKHD1L1	110578561	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.411000	0.59781	2.857000	0.98124	0.650000	0.86243	GAG		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		48	315	1	0	2.23044e-30	1	2.6157e-30	48	315				
SLC39A9	55334	broad.mit.edu	37	14	69922559	69922559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69922559G>T	ENST00000336643.5	+	6	1347	c.669G>T	c.(667-669)atG>atT	p.M223I	SLC39A9_ENST00000031146.4_Missense_Mutation_p.M157I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I|SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I|SLC39A9_ENST00000555245.1_3'UTR	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	223					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTATGTCCATGGTGACATACT	0.413																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(469-471)atG>atT		solute carrier family 39, member 9							129.0	116.0	120.0					14																	69922559		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69922559G>T		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.669G>T	14.37:g.69922559G>T	ENSP00000336887:p.Met223Ile					SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.M223I	p.M157I			Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	5	1149	+			223					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.471G>T	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007382	0.19199	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.40756	1.02;1.02;1.02	5.19	5.19	0.71726	.	0.035383	0.85682	D	0.000000	T	0.13798	0.0334	N	0.00405	-1.535	0.80722	D	1	B;B;B	0.14438	0.001;0.01;0.003	B;B;B	0.10450	0.002;0.004;0.005	T	0.37776	-0.9691	10	0.02654	T	1	-17.3407	18.8944	0.92417	0.0:0.0:1.0:0.0	.	200;223;223	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	I	223;223;200	ENSP00000452385:M223I;ENSP00000336887:M223I;ENSP00000451833:M200I	ENSP00000031146:M223I	M	+	3	0	SLC39A9	68992312	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.674000	0.83992	2.696000	0.92011	0.467000	0.42956	ATG		0.413	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		96	401	1	0	1.45819e-31	1	1.71742e-31	96	401				
INPPL1	3636	broad.mit.edu	37	11	71941873	71941873	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71941873A>G	ENST00000298229.2	+	11	1435	c.1231A>G	c.(1231-1233)Atg>Gtg	p.M411V	INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V|INPPL1_ENST00000541756.1_Missense_Mutation_p.M169V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	411					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTGCAGCTCATGAAGAACAA	0.637																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(505-507)Atg>Gtg		inositol polyphosphate phosphatase-like 1							67.0	57.0	61.0					11																	71941873		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71941873A>G	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1231A>G	11.37:g.71941873A>G	ENSP00000298229:p.Met411Val					INPPL1_ENST00000298229.2_Missense_Mutation_p.M411V|INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V	p.M169V			O15357	SHIP2_HUMAN			11	1435	+			411					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.505A>G	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	a	16.23	3.063960	0.55432	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.94931	-3.56;-3.56;-3.56	5.55	5.55	0.83447	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.46157	1.445	0.43499	D	0.995749	P	0.43788	0.817	B	0.38500	0.275	D	0.92645	0.6128	10	0.87932	D	0	.	14.5252	0.67884	1.0:0.0:0.0:0.0	.	411	O15357	SHIP2_HUMAN	V	411;169;169	ENSP00000298229:M411V;ENSP00000446360:M169V;ENSP00000444619:M169V	ENSP00000298229:M411V	M	+	1	0	INPPL1	71619521	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.936000	0.92931	2.108000	0.64289	0.379000	0.24179	ATG		0.637	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		50	222	0	0	0	1	0	50	222				
CEP152	22995	broad.mit.edu	37	15	49076311	49076311	+	Missense_Mutation	SNP	T	T	C	rs181295720	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49076311T>C	ENST00000380950.2	-	10	1367	c.1180A>G	c.(1180-1182)Att>Gtt	p.I394V	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.I301V|CEP152_ENST00000399334.3_Missense_Mutation_p.I394V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	394					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CGAGAGCAAATGTCTTCCTAA	0.294													T|||	6	0.00119808	0.0	0.0	5008	,	,		14863	0.0		0.005	False		,,,				2504	0.001					ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1180-1182)Att>Gtt		centrosomal protein 152kDa		T	VAL/ILE,VAL/ILE	5,3649		0,5,1822	76.0	68.0	71.0		1180,1180	-1.8	0.1	15		71	26,8116		0,26,4045	yes	missense,missense	CEP152	NM_001194998.1,NM_014985.3	29,29	0,31,5867	CC,CT,TT		0.3193,0.1368,0.2628	benign,benign	394/1711,394/1655	49076311	31,11765	1827	4071	5898	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49076311T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1180A>G	15.37:g.49076311T>C	ENSP00000370337:p.Ile394Val					CEP152_ENST00000325747.5_Missense_Mutation_p.I301V|CEP152_ENST00000399334.3_Missense_Mutation_p.I394V|RP11-485O10.2_ENST00000558304.1_RNA	p.I394V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	10	1367	-		all_lung(180;0.0428)	394					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1180A>G	CCDS58361.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	1.159	-0.644461	0.03531	0.001368	0.003193	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.77877	-1.13;-1.13;-1.13	5.35	-1.79	0.07932	.	0.475067	0.22648	N	0.057372	T	0.51584	0.1683	L	0.35288	1.05	0.19945	N	0.999949	B;B;B	0.16603	0.001;0.007;0.018	B;B;B	0.12156	0.001;0.007;0.005	T	0.38436	-0.9661	10	0.02654	T	1	-3.6909	0.3026	0.00275	0.2147:0.2372:0.202:0.346	.	301;394;394	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	394;301;394;394	ENSP00000370337:I394V;ENSP00000321000:I301V;ENSP00000382271:I394V	ENSP00000321000:I301V	I	-	1	0	CEP152	46863603	0.004000	0.15560	0.083000	0.20561	0.157000	0.22087	-0.235000	0.09016	-0.233000	0.09797	-1.216000	0.01612	ATT		0.294	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		34	116	0	0	0	1	0	34	116				
USP4	7375	broad.mit.edu	37	3	49332010	49332010	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49332010G>A	ENST00000265560.4	-	14	1759	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	USP4_ENST00000351842.4_Silent_p.S524S	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	571	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGCCATCCACGGAAGTGCTGC	0.537																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1570-1572)tcC>tcT		ubiquitin specific peptidase 4 (proto-oncogene)							102.0	83.0	89.0					3																	49332010		2203	4300	6503	SO:0001819	synonymous_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49332010G>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1713C>T	3.37:g.49332010G>A						USP4_ENST00000265560.4_Silent_p.S571S	p.S524S	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	13	1580	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	571					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	c.1572C>T	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	1.409	-0.575995	0.03882	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.41	-2.14	0.07123	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	-8.4843	1.608	0.02687	0.4586:0.119:0.2537:0.1686	.	.	.	.	C	310	.	.	R	-	1	0	USP4	49307014	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-0.785000	0.04628	-0.258000	0.09446	0.650000	0.86243	CGT		0.537	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		54	228	0	0	0	1	0	54	228				
ATP13A5	344905	broad.mit.edu	37	3	193036890	193036890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036890C>A	ENST00000342358.4	-	17	2040	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	641						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGGGAAATTCTTGGGCACTG	0.483																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1921-1923)aaG>aaT		ATPase type 13A5							132.0	135.0	134.0					3																	193036890		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193036890C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1923G>T	3.37:g.193036890C>A	ENSP00000341942:p.Lys641Asn						p.K641N	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	17	2040	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		641					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1923G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	6.096	0.385934	0.11524	.	.	ENSG00000187527	ENST00000342358	T	0.70869	-0.52	5.73	1.42	0.22433	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.269670	0.05084	N	0.484003	T	0.55878	0.1948	N	0.25647	0.755	0.22745	N	0.99878	B	0.27264	0.173	B	0.29440	0.102	T	0.39187	-0.9626	10	0.20046	T	0.44	-5.0747	4.883	0.13688	0.0:0.563:0.1789:0.2581	.	641	Q4VNC0	AT135_HUMAN	N	641	ENSP00000341942:K641N	ENSP00000341942:K641N	K	-	3	2	ATP13A5	194519584	0.001000	0.12720	0.848000	0.33437	0.524000	0.34500	-0.266000	0.08631	0.255000	0.21593	0.655000	0.94253	AAG		0.483	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		142	538	1	0	5.39599e-84	1	6.91194e-84	142	538				
DQX1	165545	broad.mit.edu	37	2	74751381	74751381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74751381C>T	ENST00000404568.3	-	4	704	c.485G>A	c.(484-486)gGa>gAa	p.G162E	DQX1_ENST00000393951.2_Missense_Mutation_p.G162E|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	162	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCCCCAGGCTCCAGTGCCTCG	0.592																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(484-486)gGa>gAa		DEAQ box RNA-dependent ATPase 1							67.0	69.0	69.0					2																	74751381		2203	4299	6502	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74751381C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.485G>A	2.37:g.74751381C>T	ENSP00000384621:p.Gly162Glu					DQX1_ENST00000393951.2_Missense_Mutation_p.G162E|DQX1_ENST00000495597.1_5'UTR	p.G162E	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			4	704	-			162			Helicase ATP-binding.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.485G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815377	0.02776	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.06068	4.82;4.82;3.35	4.59	4.59	0.56863	DEAD-like helicase (2);	0.144069	0.47093	D	0.000254	T	0.03390	0.0098	N	0.05383	-0.06	0.36377	D	0.861658	B	0.24618	0.107	B	0.22386	0.039	T	0.28396	-1.0045	10	0.06365	T	0.9	-15.8456	14.9166	0.70801	0.0:1.0:0.0:0.0	.	162	Q8TE96	DQX1_HUMAN	E	162;162;44	ENSP00000377523:G162E;ENSP00000384621:G162E;ENSP00000392969:G44E	ENSP00000377523:G162E	G	-	2	0	DQX1	74604889	0.994000	0.37717	1.000000	0.80357	0.600000	0.36913	2.215000	0.42862	2.374000	0.81015	0.609000	0.83330	GGA		0.592	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		18	691	0	0	0	1	0	18	691				
GBX1	2636	broad.mit.edu	37	7	150846225	150846225	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150846225C>A	ENST00000297537.4	-	2	542	c.543G>T	c.(541-543)gaG>gaT	p.E181D	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	181					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCTTCCCCTCTGCTGTGA	0.582																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(541-543)gaG>gaT		gastrulation brain homeobox 1							144.0	153.0	150.0					7																	150846225		2031	4190	6221	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150846225C>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.543G>T	7.37:g.150846225C>A	ENSP00000297537:p.Glu181Asp						p.E181D	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	542	-			181						Missense_Mutation	SNP	ENST00000297537.4	37	c.543G>T	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829649	0.32329	.	.	ENSG00000164900	ENST00000297537	D	0.91996	-2.95	5.12	5.12	0.69794	.	0.000000	0.56097	U	0.000030	T	0.81408	0.4816	N	0.08118	0	0.80722	D	1	B	0.24920	0.114	B	0.24974	0.057	T	0.76542	-0.2921	10	0.18276	T	0.48	-28.0536	10.0885	0.42432	0.1519:0.7012:0.147:0.0	.	181	Q14549	GBX1_HUMAN	D	181	ENSP00000297537:E181D	ENSP00000297537:E181D	E	-	3	2	GBX1	150477158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.031000	0.30165	2.398000	0.81561	0.591000	0.81541	GAG		0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			310	1274	1	0	5.60145e-70	1	7.11217e-70	310	1274				
TCF19	6941	broad.mit.edu	37	6	31130430	31130430	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31130430G>T	ENST00000376257.3	+	4	1728	c.974G>T	c.(973-975)aGc>aTc	p.S325I	TCF19_ENST00000376255.4_Missense_Mutation_p.S325I|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	325					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTTGGCTGCAGCATCCAGGCT	0.627																																						ENST00000376257.3																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(973-975)aGc>aTc		transcription factor 19							45.0	55.0	52.0					6																	31130430		1431	2650	4081	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31130430G>T	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.974G>T	6.37:g.31130430G>T	ENSP00000365433:p.Ser325Ile					TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.S325I	p.S325I	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			4	1728	+			325					A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.974G>T	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119860	0.77323	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	D;D	0.85258	-1.96;-1.96	4.85	3.96	0.45880	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	1.639190	0.03436	N	0.208510	D	0.90184	0.6932	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81949	-0.0699	10	0.87932	D	0	-42.3361	11.364	0.49660	0.0912:0.0:0.9088:0.0	.	325	Q9Y242	TCF19_HUMAN	I	325	ENSP00000365433:S325I;ENSP00000365431:S325I	ENSP00000365431:S325I	S	+	2	0	TCF19	31238409	0.970000	0.33590	1.000000	0.80357	0.991000	0.79684	1.626000	0.37039	2.518000	0.84900	0.542000	0.68232	AGC		0.627	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		64	263	1	0	6.2918e-36	1	7.52148e-36	64	263				
BMP1	649	broad.mit.edu	37	8	22037910	22037910	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22037910G>A	ENST00000306385.5	+	8	1661	c.991G>A	c.(991-993)Ggc>Agc	p.G331S	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S|BMP1_ENST00000397814.3_Missense_Mutation_p.G331S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	331	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGACAGCACAGGCAACTTCTC	0.602																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(991-993)Ggc>Agc		bone morphogenetic protein 1							233.0	206.0	215.0					8																	22037910		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037910G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.991G>A	8.37:g.22037910G>A	ENSP00000305714:p.Gly331Ser					BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000397814.3_Missense_Mutation_p.G331S|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S	p.G331S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	8	1661	+			331			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.991G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623558	0.96660	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.66	5.66	0.87406	CUB (5);	0.000000	0.39146	U	0.001449	T	0.80675	0.4668	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	0.979;1.0;1.0;0.999	D;D;D;D	0.97110	0.912;1.0;0.99;0.985	D	0.85208	0.1019	10	0.72032	D	0.01	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	331;404;331;331	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	331	ENSP00000305714:G331S;ENSP00000380917:G331S;ENSP00000306121:G331S;ENSP00000380915:G331S	ENSP00000306121:G331S	G	+	1	0	BMP1	22093855	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	9.809000	0.99208	2.665000	0.90641	0.561000	0.74099	GGC		0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		96	932	0	0	0	1	0	96	932				
CLOCK	9575	broad.mit.edu	37	4	56348963	56348963	+	De_novo_Start_InFrame	SNP	G	G	A	rs367880709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56348963G>A	ENST00000309964.4	-	0	240				CLOCK_ENST00000513440.1_De_novo_Start_InFrame|CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_De_novo_Start_InFrame	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator						cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AACATACTACGTTTTCGTCTT	0.284																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38								clock circadian regulator		G		0,4404		0,0,2202	93.0	80.0	84.0			4.3	1.0	4		84	1,8593	1.2+/-3.3	0,1,4296	no	utr-5	CLOCK	NM_004898.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077			56348963	1,12997	2202	4297	6499			9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56348963G>A	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141		4.37:g.56348963G>A						CLOCK_ENST00000381322.1_De_novo_Start_InFrame|CLOCK_ENST00000513440.1_De_novo_Start_InFrame|CLOCK_ENST00000506923.1_5'UTR		NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		0	240	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)							A0AV01|A2I2N9|O14516|Q9UIT8	Translation_Start_Site	SNP	ENST00000309964.4	37		CCDS3500.1																																																																																				0.284	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		22	91	0	0	0	1	0	22	91				
PHACTR2	9749	broad.mit.edu	37	6	144086760	144086760	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086760C>A	ENST00000427704.2	+	6	1154	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	342							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTCTCCCTCTTGAGGATCA	0.582																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1024-1026)Ctt>Att		phosphatase and actin regulator 2							59.0	64.0	62.0					6																	144086760		2016	4154	6170	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086760C>A	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1024C>A	6.37:g.144086760C>A	ENSP00000391763:p.Leu342Ile					PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I	p.L342I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1154	+			342					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.1024C>A	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723102	0.30503	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.33654	1.4;1.83;1.44;1.83;1.44	5.22	2.34	0.29019	.	1.943490	0.02138	N	0.056949	T	0.13200	0.0320	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.29766	0.256;0.019;0.019;0.011	B;B;B;B	0.32289	0.143;0.015;0.015;0.007	T	0.16808	-1.0390	10	0.16896	T	0.51	.	5.5824	0.17256	0.0:0.4751:0.291:0.2338	.	353;262;273;342	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	330;342;262;353;273	ENSP00000356556:L330I;ENSP00000391763:L342I;ENSP00000305530:L262I;ENSP00000417038:L353I;ENSP00000356554:L273I	ENSP00000305530:L262I	L	+	1	0	PHACTR2	144128453	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.023000	0.13533	0.549000	0.28973	0.655000	0.94253	CTT		0.582	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		73	316	1	0	4.01556e-35	1	4.78946e-35	73	316				
RNF220	55182	broad.mit.edu	37	1	45111149	45111149	+	Silent	SNP	C	C	T	rs569107205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45111149C>T	ENST00000355387.2	+	12	1884	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Silent_p.S478S|RNF220_ENST00000443020.2_Silent_p.S265S|RNF220_ENST00000372247.2_Silent_p.S478S			Q5VTB9	RN220_HUMAN	ring finger protein 220	478					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCAAGAACAGCGACATCGAGA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		21947	0.0		0.0	False		,,,				2504	0.001					ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(1432-1434)agC>agT		ring finger protein 220							112.0	95.0	100.0					1																	45111149		2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45111149C>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1434C>T	1.37:g.45111149C>T						TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Silent_p.S478S|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000372247.2_Silent_p.S478S|RNF220_ENST00000443020.2_Silent_p.S265S	p.S478S			Q5VTB9	RN220_HUMAN			12	1884	+			478					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.1434C>T	CCDS510.1																																																																																				0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		22	148	0	0	0	1	0	22	148				
BBS12	166379	broad.mit.edu	37	4	123664988	123664988	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664988T>G	ENST00000314218.3	+	2	2134	c.1941T>G	c.(1939-1941)atT>atG	p.I647M	BBS12_ENST00000542236.1_Missense_Mutation_p.I647M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	647					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATAGTAGAATTTTTAATTCAG	0.378									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1939-1941)atT>atG		Bardet-Biedl syndrome 12							46.0	48.0	47.0					4																	123664988		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664988T>G	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1941T>G	4.37:g.123664988T>G	ENSP00000319062:p.Ile647Met					BBS12_ENST00000314218.3_Missense_Mutation_p.I647M	p.I647M	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	2322	+			647					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1941T>G	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731093	0.30684	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.70282	-0.47;-0.47	5.63	3.0	0.34707	.	1.298120	0.05026	N	0.473681	T	0.70369	0.3216	L	0.60455	1.87	0.25110	N	0.990721	B	0.19445	0.036	B	0.22152	0.038	T	0.56697	-0.7936	10	0.37606	T	0.19	-30.0686	12.6001	0.56492	0.0:0.0:0.3882:0.6118	.	647	Q6ZW61	BBS12_HUMAN	M	647	ENSP00000319062:I647M;ENSP00000438273:I647M	ENSP00000319062:I647M	I	+	3	3	BBS12	123884438	0.635000	0.27199	0.825000	0.32803	0.174000	0.22865	0.292000	0.19011	0.934000	0.37316	0.533000	0.62120	ATT		0.378	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		6	259	0	0	0	1	0	6	259				
HIVEP1	3096	broad.mit.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(6514-6516)Cga>Tga		human immunodeficiency virus type I enhancer binding protein 1							84.0	91.0	89.0					6																	12161698		1948	4148	6096	SO:0001587	stop_gained	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161698C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6514C>T	6.37:g.12161698C>T	ENSP00000368698:p.Arg2172*					HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	p.R2172*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			8	6846	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2172					B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	c.6514C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691961	0.88735	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	2.63	0.31362	.	0.000000	0.31392	N	0.007736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1929	14.4025	0.67056	0.576:0.424:0.0:0.0	.	.	.	.	X	2172;99;37;154	.	ENSP00000368698:R2172X	R	+	1	2	HIVEP1	12269684	0.999000	0.42202	0.995000	0.50966	0.717000	0.41224	0.624000	0.24462	0.631000	0.30412	0.655000	0.94253	CGA		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		94	432	0	0	0	1	0	94	432				
TULP1	7287	broad.mit.edu	37	6	35466170	35466170	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35466170C>T	ENST00000229771.6	-	15	1642	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	TEAD3_ENST00000402886.3_5'Flank|TEAD3_ENST00000338863.7_5'Flank|TULP1_ENST00000322263.4_Silent_p.P468P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	521					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCGCACAGCGGGTACCGGT	0.687																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1561-1563)ccG>ccA		tubby like protein 1							45.0	45.0	45.0					6																	35466170		2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35466170C>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1563G>A	6.37:g.35466170C>T						TULP1_ENST00000322263.4_Silent_p.P468P	p.P521P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			15	1642	-			521					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.1563G>A	CCDS4807.1																																																																																				0.687	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			32	141	0	0	0	1	0	32	141				
IGHV4-39	28394	broad.mit.edu	37	14	106877921	106877921	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106877921G>A	ENST00000390619.2	-	0	122									immunoglobulin heavy variable 4-39																		AGCTGGGACAGGACCCCTGTG	0.592																																						ENST00000390619.2																			0																				58.0	46.0	50.0					14																	106877921		1902	4115	6017			0							g.chr14:106877921G>A	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877921G>A														0	122	-									RNA	SNP	ENST00000390619.2	37																																																																																						0.592	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		54	320	0	0	0	1	0	54	320				
GPR6	2830	broad.mit.edu	37	6	110300884	110300884	+	Missense_Mutation	SNP	C	C	A	rs374392328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110300884C>A	ENST00000275169.3	+	1	587	c.569C>A	c.(568-570)gCc>gAc	p.A190D	GPR6_ENST00000414000.2_Missense_Mutation_p.A205D	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	190					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CTCCTGCTTGCCGCCACTTGG	0.687																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(613-615)gCc>gAc		G protein-coupled receptor 6							25.0	27.0	26.0					6																	110300884		2203	4300	6503	SO:0001583	missense	0					integral to plasma membrane		g.chr6:110300884C>A		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.569C>A	6.37:g.110300884C>A	ENSP00000275169:p.Ala190Asp					GPR6_ENST00000275169.3_Missense_Mutation_p.A190D	p.A205D			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	853	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	190					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.614C>A	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964004	0.53507	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.42513	0.97;0.97	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.273274	0.31772	N	0.007085	T	0.51449	0.1675	M	0.85462	2.755	0.09310	N	0.999994	D;D	0.64830	0.993;0.994	P;D	0.63597	0.889;0.916	T	0.51568	-0.8689	10	0.72032	D	0.01	.	8.2855	0.31926	0.0:0.7829:0.0:0.2171	.	205;190	B4DHS9;P46095	.;GPR6_HUMAN	D	190;205;190	ENSP00000406986:A205D;ENSP00000275169:A190D	ENSP00000275169:A190D	A	+	2	0	GPR6	110407577	0.965000	0.33210	0.411000	0.26484	0.955000	0.61496	3.201000	0.51059	2.504000	0.84457	0.563000	0.77884	GCC		0.687	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			47	204	1	0	3.05275e-18	1	3.38534e-18	47	204				
CALR	811	broad.mit.edu	37	19	13054419	13054419	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13054419C>T	ENST00000316448.5	+	8	1102	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000586534.1_5'Flank|RAD23A_ENST00000592268.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000541222.1_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	343	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	AGGAGTTTGGCAACGAGACGT	0.592																																						ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(1027-1029)ggC>ggT		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						155.0	121.0	133.0					19																	13054419		2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13054419C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1029C>T	19.37:g.13054419C>T							p.G343G	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN			8	1102	+			343			C-domain.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.1029C>T	CCDS12288.1																																																																																				0.592	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		47	253	0	0	0	1	0	47	253				
FBLIM1	54751	broad.mit.edu	37	1	16101142	16101142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16101142C>T	ENST00000375766.3	+	7	1381	c.741C>T	c.(739-741)ggC>ggT	p.G247G	FBLIM1_ENST00000441801.2_Silent_p.G247G|FBLIM1_ENST00000400773.1_Silent_p.G150G|FBLIM1_ENST00000375771.1_Silent_p.G247G|FBLIM1_ENST00000332305.5_Silent_p.G150G	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	247	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCAAGTGTGGCGAGGTGGTCC	0.637																																						ENST00000375766.3																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(739-741)ggC>ggT		filamin binding LIM protein 1							70.0	61.0	64.0					1																	16101142		2203	4300	6503	SO:0001819	synonymous_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16101142C>T		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.741C>T	1.37:g.16101142C>T						FBLIM1_ENST00000375771.1_Silent_p.G247G|FBLIM1_ENST00000400773.1_Silent_p.G150G|FBLIM1_ENST00000441801.2_Silent_p.G247G|FBLIM1_ENST00000332305.5_Silent_p.G150G	p.G247G	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	7	1381	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	247			LIM zinc-binding 2.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	c.741C>T	CCDS163.1																																																																																				0.637	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		51	417	0	0	0	1	0	51	417				
ATXN7L2	127002	broad.mit.edu	37	1	110031538	110031538	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110031538C>A	ENST00000369870.3	+	7	868	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	285	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGTGGCAGAGCTGAAGGCCAA	0.627																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(853-855)Ctg>Atg		ataxin 7-like 2							41.0	44.0	43.0					1																	110031538		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110031538C>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.853C>A	1.37:g.110031538C>A	ENSP00000358886:p.Leu285Met						p.L285M	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	868	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	285			SCA7.			Missense_Mutation	SNP	ENST00000369870.3	37	c.853C>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286534	0.59867	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.35421	1.31	5.72	4.82	0.62117	SCA7 domain (2);	0.000000	0.47093	D	0.000246	T	0.28928	0.0718	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13045	-1.0524	10	0.35671	T	0.21	-7.1685	8.7501	0.34611	0.0:0.8294:0.0:0.1706	.	285	Q5T6C5	AT7L2_HUMAN	M	285	ENSP00000358886:L285M	ENSP00000358886:L285M	L	+	1	2	ATXN7L2	109833061	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.513000	0.35823	1.424000	0.47217	0.561000	0.74099	CTG		0.627	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		16	330	1	0	1.37285e-15	1	1.50199e-15	16	330				
CHAF1A	10036	broad.mit.edu	37	19	4429469	4429469	+	Missense_Mutation	SNP	G	G	A	rs201513692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4429469G>A	ENST00000301280.5	+	9	1740	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	547					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGGCGACGGTGTTCCCGA	0.572								Chromatin Structure					G|||	1	0.000199681	0.0008	0.0	5008	,	,		18403	0.0		0.0	False		,,,				2504	0.0					ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(1639-1641)Ggt>Agt	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		G	SER/GLY	0,4406		0,0,2203	106.0	94.0	98.0		1639	1.5	0.0	19		98	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHAF1A	NM_005483.2	56	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	547/957	4429469	4,13002	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4429469G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1639G>A	19.37:g.4429469G>A	ENSP00000301280:p.Gly547Ser						p.G547S	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1740	+		Hepatocellular(1079;0.137)	547					Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1639G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038125	0.19669	0.0	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.14144	2.53	5.14	1.49	0.22878	.	.	.	.	.	T	0.10594	0.0259	L	0.55481	1.735	0.09310	N	0.999996	P	0.41475	0.751	B	0.26094	0.066	T	0.16988	-1.0384	9	0.87932	D	0	-17.0114	8.1559	0.31169	0.2988:0.0:0.7012:0.0	.	547	Q13111	CAF1A_HUMAN	S	547	ENSP00000301280:G547S	ENSP00000301280:G547S	G	+	1	0	CHAF1A	4380469	0.116000	0.22171	0.004000	0.12327	0.000000	0.00434	1.660000	0.37397	0.386000	0.24997	-0.237000	0.12165	GGT		0.572	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		59	323	0	0	0	1	0	59	323				
RPL18A	6142	broad.mit.edu	37	19	17973031	17973031	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17973031C>A	ENST00000222247.5	+	3	408	c.327C>A	c.(325-327)tgC>tgA	p.C109*	RPL18A_ENST00000599898.1_Splice_Site_p.C70*|RPL18A_ENST00000600147.1_Splice_Site_p.C109*|RPL18A_ENST00000599870.1_Splice_Site_p.C80*|SNORA68_ENST00000384437.1_RNA	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	109					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCACCCAGTGCTGTAAGCTGC	0.607																																						ENST00000600147.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.e3+1		ribosomal protein L18a							56.0	60.0	58.0					19																	17973031		2203	4300	6503	SO:0001630	splice_region_variant	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:17973031C>A	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.328+1C>A	19.37:g.17973031C>A						RPL18A_ENST00000222247.5_Splice_Site_p.C109_splice|RPL18A_ENST00000599870.1_Splice_Site_p.C80_splice|RPL18A_ENST00000599898.1_Splice_Site_p.C70_splice	p.C109_splice			Q02543	RL18A_HUMAN			3	363	+			109						Splice_Site	SNP	ENST00000222247.5	37	c.328_splice	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411930	0.62511	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.18	3.14	0.36123	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9737	0.41770	0.0:0.8976:0.0:0.1024	.	.	.	.	X	109	.	ENSP00000222247:C109X	C	+	3	2	RPL18A	17834031	1.000000	0.71417	0.994000	0.49952	0.247000	0.25773	4.786000	0.62425	0.897000	0.36392	0.557000	0.71058	TGC		0.607	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980	Nonsense_Mutation	86	521	1	0	4.64247e-43	1	5.66271e-43	86	521				
LRIG1	26018	broad.mit.edu	37	3	66431186	66431186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66431186G>A	ENST00000273261.3	-	18	3394	c.2870C>T	c.(2869-2871)gCa>gTa	p.A957V	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A934V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	957			A -> T (in dbSNP:rs332373).		innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTTGGCTGTGCGCTGTCTCT	0.632																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2800-2802)gCa>gTa		leucine-rich repeats and immunoglobulin-like domains 1							61.0	63.0	62.0					3																	66431186		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66431186G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2870C>T	3.37:g.66431186G>A	ENSP00000273261:p.Ala957Val					LRIG1_ENST00000273261.3_Missense_Mutation_p.A957V|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.A934V			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	19	3404	-		Lung NSC(201;0.0101)	957					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.2801C>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224411	0.09863	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.63744	-0.06;-0.03	5.55	-0.703	0.11261	.	1.630420	0.03007	N	0.148949	T	0.50565	0.1623	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.22626	-1.0211	10	0.29301	T	0.29	.	7.8908	0.29677	0.2123:0.3433:0.4444:0.0	.	934;957;957	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	V	957;934;860	ENSP00000273261:A957V;ENSP00000373208:A934V	ENSP00000273261:A957V	A	-	2	0	LRIG1	66513876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.156000	0.16382	-0.478000	0.06823	-1.316000	0.01300	GCA		0.632	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		21	442	0	0	0	1	0	21	442				
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	G	A	rs189208692	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388													G|||	2	0.000399361	0.0	0.0014	5008	,	,		23579	0.001		0.0	False		,,,				2504	0.0					ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2713-2715)aaC>aaT		activity-dependent neuroprotector homeobox							151.0	151.0	151.0					20																	49508536		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508536G>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2715C>T	20.37:g.49508536G>A						ADNP_ENST00000396032.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N	p.N905N	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3282	-			905					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.2715C>T	CCDS13433.1																																																																																				0.388	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		89	781	0	0	0	1	0	89	781				
VPS36	51028	broad.mit.edu	37	13	52991255	52991255	+	Silent	SNP	G	G	A	rs199529310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52991255G>A	ENST00000378060.4	-	12	954	c.927C>T	c.(925-927)ggC>ggT	p.G309G		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	309					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTACCATGACGCCACTGTCAA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		16992	0.0		0.001	False		,,,				2504	0.0					ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(925-927)ggC>ggT		vacuolar protein sorting 36 homolog (S. cerevisiae)							69.0	61.0	64.0					13																	52991255		2203	4300	6503	SO:0001819	synonymous_variant	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:52991255G>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.927C>T	13.37:g.52991255G>A							p.G309G	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	12	954	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	309					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	ENST00000378060.4	37	c.927C>T	CCDS9434.1																																																																																				0.468	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			28	135	0	0	0	1	0	28	135				
AXIN1	8312	broad.mit.edu	37	16	360044	360044	+	Missense_Mutation	SNP	G	G	A	rs369325988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:360044G>A	ENST00000262320.3	-	4	1416	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.R349C(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCTGCTTACGGATCCTGTAT	0.617																																						ENST00000262320.3																			1	Substitution - Missense(1)	p.R349C(1)	liver(1)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1045-1047)Cgt>Tgt		axin 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	79.0	51.0	60.0		1045,1045	4.8	0.9	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	349/863,349/827	360044	1,13005	2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:360044G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1045C>T	16.37:g.360044G>A	ENSP00000262320:p.Arg349Cys					AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C|AXIN1_ENST00000481769.1_5'UTR	p.R349C	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			4	1416	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	349			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1045C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010028	0.54361	0.0	1.16E-4	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82893	-1.66;-1.66	4.84	4.84	0.62591	.	0.057737	0.64402	D	0.000001	D	0.89111	0.6622	M	0.78801	2.425	0.80722	D	1	D;D	0.61080	0.987;0.989	P;P	0.55087	0.768;0.667	D	0.91021	0.4857	10	0.87932	D	0	14.04	17.9962	0.89185	0.0:0.0:1.0:0.0	.	349;349	O15169-2;O15169	.;AXIN1_HUMAN	C	349	ENSP00000262320:R349C;ENSP00000346935:R349C	ENSP00000262320:R349C	R	-	1	0	AXIN1	300045	1.000000	0.71417	0.939000	0.37840	0.174000	0.22865	7.486000	0.81215	2.257000	0.74773	0.456000	0.33151	CGT		0.617	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			16	82	0	0	0	1	0	16	82				
ZNF606	80095	broad.mit.edu	37	19	58500015	58500015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58500015C>T	ENST00000341164.4	-	5	872	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNF606_ENST00000552579.1_5'Flank|ZNF606_ENST00000536132.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GGTACAGGGTCCTCTGAACAA	0.537																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(250-252)agG>agA		zinc finger protein 606							213.0	190.0	198.0					19																	58500015		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58500015C>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.252G>A	19.37:g.58500015C>T						ZNF606_ENST00000536132.1_5'UTR	p.R84R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	5	872	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	84			KRAB.		A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.252G>A	CCDS12968.1																																																																																				0.537	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		199	927	0	0	0	1	0	199	927				
PRAMEF11	440560	broad.mit.edu	37	1	12884806	12884806	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884806G>A	ENST00000535591.1	-	4	1500	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	435					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCATTCAACAGCAGTATTGAT	0.473																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1303-1305)tgC>tgT		PRAME family member 11							36.0	28.0	31.0					1																	12884806		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884806G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1305C>T	1.37:g.12884806G>A							p.C435C	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1500	-			435						Silent	SNP	ENST00000535591.1	37	c.1305C>T	CCDS53268.1																																																																																				0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		70	577	0	0	0	1	0	70	577				
VWA7	80737	broad.mit.edu	37	6	31735240	31735240	+	Missense_Mutation	SNP	C	C	T	rs371873796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31735240C>T	ENST00000375688.4	-	12	1888	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H	VWA7_ENST00000375686.3_Missense_Mutation_p.R563H|VWA7_ENST00000447450.1_Missense_Mutation_p.R563H|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	563						extracellular region (GO:0005576)											CTGCCCAAAGCGGCGAGTGTG	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15034	0.0		0.0	False		,,,				2504	0.0					ENST00000375686.3																			0											c.(1687-1689)cGc>cAc		von Willebrand factor A domain containing 7		C	HIS/ARG	0,3022		0,0,1511	83.0	89.0	87.0		1688	2.3	0.5	6		87	1,5417		0,1,2708	no	missense	C6orf27	NM_025258.2	29	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	benign	563/892	31735240	1,8439	1511	2709	4220	SO:0001583	missense	80737					extracellular region		g.chr6:31735240C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1688G>A	6.37:g.31735240C>T	ENSP00000364840:p.Arg563His					VWA7_ENST00000447450.1_Missense_Mutation_p.R563H|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.R563H	p.R563H	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			12	1925	-			563					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1688G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300019	0.23650	0.0	1.85E-4	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.31510	2.7;2.48;1.49	5.04	2.32	0.28847	.	0.757532	0.12563	N	0.457977	T	0.09024	0.0223	L	0.38838	1.175	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32348	-0.9910	10	0.48119	T	0.1	-0.848	7.0157	0.24887	0.0:0.7186:0.0:0.2814	.	563	Q9Y334	G7C_HUMAN	H	563	ENSP00000364840:R563H;ENSP00000364838:R563H;ENSP00000390554:R563H	ENSP00000364838:R563H	R	-	2	0	C6orf27	31843219	0.013000	0.17824	0.504000	0.27639	0.619000	0.37552	1.234000	0.32660	0.312000	0.23038	-0.291000	0.09656	CGC		0.597	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		109	394	0	0	0	1	0	109	394				
DOCK3	1795	broad.mit.edu	37	3	51264771	51264771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51264771C>A	ENST00000266037.9	+	16	1458	c.1435C>A	c.(1435-1437)Ctc>Atc	p.L479I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	479	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L468I(1)|p.L479I(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCCTTTGTCCTCTACCACAG	0.478																																						ENST00000266037.9																			2	Substitution - Missense(2)	p.L468I(1)|p.L479I(1)	lung(2)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1435-1437)Ctc>Atc		dedicator of cytokinesis 3							160.0	154.0	156.0					3																	51264771		1853	4092	5945	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51264771C>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1435C>A	3.37:g.51264771C>A	ENSP00000266037:p.Leu479Ile						p.L479I	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	16	1458	+			479			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1435C>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152422	0.94645	.	.	ENSG00000088538	ENST00000266037	T	0.14766	2.48	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00501	-1.1702	10	0.19590	T	0.45	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	479	Q8IZD9	DOCK3_HUMAN	I	479	ENSP00000266037:L479I	ENSP00000266037:L479I	L	+	1	0	DOCK3	51239811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CTC		0.478	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		145	584	1	0	1.13124e-70	1	1.43728e-70	145	584				
OR4D11	219986	broad.mit.edu	37	11	59271327	59271327	+	Silent	SNP	C	C	A	rs141756362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59271327C>A	ENST00000313253.1	+	1	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACCATATCCTATACAAGCT	0.468																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(277-279)tcC>tcA		olfactory receptor, family 4, subfamily D, member 11							188.0	178.0	181.0					11																	59271327		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271327C>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.279C>A	11.37:g.59271327C>A							p.S93S	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	279	+			93						Silent	SNP	ENST00000313253.1	37	c.279C>A	CCDS31563.1																																																																																				0.468	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		197	800	1	0	4.69411e-80	1	6.00157e-80	197	800				
STRC	161497	broad.mit.edu	37	15	43910165	43910165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43910165C>T	ENST00000450892.2	-	2	531	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	152					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAGGGGGGCCCCCAGGAACT	0.637																																						ENST00000450892.2																			0				skin(4)	4						c.(454-456)Ggc>Agc		stereocilin							44.0	65.0	58.0					15																	43910165		2196	4296	6492	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43910165C>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.454G>A	15.37:g.43910165C>T	ENSP00000401513:p.Gly152Ser					STRC_ENST00000541030.1_5'UTR	p.G152S	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	531	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	152						Missense_Mutation	SNP	ENST00000450892.2	37	c.454G>A	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795824	0.70452	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.78364	-1.17	5.05	5.05	0.67936	.	0.295993	0.27518	N	0.019002	T	0.66538	0.2799	N	0.24115	0.695	0.80722	D	1	P;P	0.44139	0.827;0.827	B;B	0.41510	0.359;0.359	T	0.66810	-0.5829	10	0.31617	T	0.26	-12.2091	13.9904	0.64362	0.0:1.0:0.0:0.0	.	152;152	E9PBT5;Q7RTU9	.;STRC_HUMAN	S	152;152;152;92	ENSP00000401513:G152S	ENSP00000299992:G152S	G	-	1	0	STRC	41697457	0.541000	0.26417	0.574000	0.28523	0.855000	0.48748	5.003000	0.63959	2.360000	0.80028	0.632000	0.83419	GGC		0.637	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		55	494	0	0	0	1	0	55	494				
PLIN3	10226	broad.mit.edu	37	19	4859664	4859664	+	Missense_Mutation	SNP	C	C	T	rs149231262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4859664C>T	ENST00000221957.4	-	4	462	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PLIN3_ENST00000592528.1_Missense_Mutation_p.A96T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A96T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	96					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCCCTGTGGGCGTATTCGCTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19205	0.0		0.0	False		,,,				2504	0.001					ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(286-288)Gcc>Acc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						77.0	69.0	71.0					19																	4859664		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4859664C>T	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.286G>A	19.37:g.4859664C>T	ENSP00000221957:p.Ala96Thr					PLIN3_ENST00000585479.1_Missense_Mutation_p.A96T|PLIN3_ENST00000592528.1_Missense_Mutation_p.A96T	p.A96T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			4	462	-			96					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.286G>A	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753824	0.69648	.	.	ENSG00000105355	ENST00000221957	T	0.09538	2.97	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	M	0.87269	2.87	0.50467	D	0.99987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49844	-0.8896	10	0.87932	D	0	-18.4431	16.2945	0.82763	0.0:1.0:0.0:0.0	.	96;96	O60664-3;O60664	.;PLIN3_HUMAN	T	96	ENSP00000221957:A96T	ENSP00000221957:A96T	A	-	1	0	PLIN3	4810664	1.000000	0.71417	0.614000	0.29051	0.117000	0.20001	5.674000	0.68117	2.161000	0.67846	0.462000	0.41574	GCC		0.567	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		43	252	0	0	0	1	0	43	252				
ZNF534	147658	broad.mit.edu	37	19	52942497	52942497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52942497G>A	ENST00000332323.6	+	4	1884	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACCTTGCGCGACATAGGAAA	0.418																																						ENST00000332323.6																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1822-1824)cGa>cAa		zinc finger protein 534							45.0	43.0	44.0					19																	52942497		692	1591	2283	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942497G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1823G>A	19.37:g.52942497G>A	ENSP00000327538:p.Arg608Gln					ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	p.R608Q	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1884	+			608					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.1823G>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	g	3.181	-0.167843	0.06461	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.26223	1.75;1.75	1.72	-3.44	0.04796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.25144	0.715	0.09310	N	1	P;P	0.38250	0.571;0.624	B;B	0.17979	0.012;0.02	T	0.33189	-0.9878	9	0.12766	T	0.61	.	3.2751	0.06896	0.2522:0.0:0.3274:0.4205	.	595;608	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	Q	608;595;607	ENSP00000327538:R608Q;ENSP00000391358:R595Q	ENSP00000327538:R608Q	R	+	2	0	ZNF534	57634309	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-9.259000	0.00012	-0.948000	0.03668	0.405000	0.27470	CGA		0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		9	37	0	0	0	1	0	9	37				
ZNF365	22891	broad.mit.edu	37	10	64382994	64382994	+	Intron	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64382994T>G	ENST00000395251.1	+	2	150				ZNF365_ENST00000410046.3_Silent_p.S371S	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGGACGTCTTCCACGGCTA	0.458																																						ENST00000410046.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1111-1113)tcT>tcG		zinc finger protein 365							143.0	139.0	141.0					10																	64382994		2203	4300	6503	SO:0001627	intron_variant	22891							g.chr10:64382994T>G	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.-184-20508T>G	10.37:g.64382994T>G						ZNF365_ENST00000395251.1_Intron	p.S371S	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN			5	1393	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		125						Silent	SNP	ENST00000395251.1	37	c.1113T>G	CCDS7265.1																																																																																				0.458	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		122	540	0	0	0	1	0	122	540				
CNGA3	1261	broad.mit.edu	37	2	99012701	99012701	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99012701C>A	ENST00000272602.2	+	7	1107	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	CNGA3_ENST00000436404.2_Silent_p.L338L|CNGA3_ENST00000409937.1_Silent_p.L360L|CNGA3_ENST00000393504.1_Silent_p.L356L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	356					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTACAGTCTCTACTGGTCCA	0.512																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1066-1068)ctC>ctA		cyclic nucleotide gated channel alpha 3							83.0	83.0	83.0					2																	99012701		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012701C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1068C>A	2.37:g.99012701C>A						CNGA3_ENST00000436404.2_Silent_p.L338L|CNGA3_ENST00000409937.1_Silent_p.L360L|CNGA3_ENST00000272602.2_Silent_p.L356L	p.L356L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1485	+			356					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1068C>A	CCDS2034.1																																																																																				0.512	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		83	385	1	0	3.26865e-45	1	4.00579e-45	83	385				
RAC3	5881	broad.mit.edu	37	17	79990867	79990867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79990867C>T	ENST00000306897.4	+	4	408	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	90					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGGCCTCCTTCGAGAATGTTC	0.617																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(268-270)ttC>ttT		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							76.0	83.0	81.0					17																	79990867		2203	4300	6503	SO:0001819	synonymous_variant	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79990867C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.270C>T	17.37:g.79990867C>T							p.F90F	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	408	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		90					O14658|Q5U0M8	Silent	SNP	ENST00000306897.4	37	c.270C>T	CCDS11798.1																																																																																				0.617	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			137	560	0	0	0	1	0	137	560				
CYFIP2	26999	broad.mit.edu	37	5	156747679	156747679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156747679C>T	ENST00000521420.1	+	14	1553	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1540-1542)Cga>Tga		cytoplasmic FMR1 interacting protein 2							59.0	60.0	60.0					5																	156747679		1962	4140	6102	SO:0001587	stop_gained	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156747679C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1462C>T	5.37:g.156747679C>T	ENSP00000430904:p.Arg488*					CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.R488*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*	p.R514*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		15	1971	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	514						Nonsense_Mutation	SNP	ENST00000521420.1	37	c.1540C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.747593	0.99253	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.64	5.64	0.86602	.	0.054754	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3411	15.3335	0.74231	0.1402:0.8597:0.0:0.0	.	.	.	.	X	514;318;488;514;514;439;188	.	ENSP00000325817:R514X	R	+	1	2	CYFIP2	156680257	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.859000	0.39418	2.664000	0.90586	0.655000	0.94253	CGA		0.532	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		36	163	0	0	0	1	0	36	163				
ANKS1A	23294	broad.mit.edu	37	6	34953057	34953057	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34953057T>G	ENST00000360359.3	+	8	1347		c.e8+2		ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A						ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTGAGGCCTGTATGTGACCCG	0.622																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e8+2		ankyrin repeat and sterile alpha motif domain containing 1A							48.0	49.0	49.0					6																	34953057		2203	4300	6503	SO:0001630	splice_region_variant	23294					cytoplasm	protein binding	g.chr6:34953057T>G	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1209+2T>G	6.37:g.34953057T>G						ANKS1A_ENST00000535627.1_Intron		NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			8	1347	+								A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Splice_Site	SNP	ENST00000360359.3	37		CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054514	0.75960	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6019	0.68447	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35061035	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.896000	0.63222	2.180000	0.69256	0.533000	0.62120	.		0.622	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478	Intron	22	254	0	0	0	1	0	22	254				
LRRC16B	90668	broad.mit.edu	37	14	24523715	24523715	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24523715C>T	ENST00000342740.5	+	5	511	c.357C>T	c.(355-357)ggC>ggT	p.G119G	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	119						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCTGCCCTGGCCCTGGGTGAG	0.582																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(355-357)ggC>ggT		leucine rich repeat containing 16B							68.0	59.0	62.0					14																	24523715		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24523715C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.357C>T	14.37:g.24523715C>T						LRRC16B_ENST00000334420.7_5'UTR	p.G119G	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	5	511	+			119					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.357C>T	CCDS32054.1																																																																																				0.582	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		40	228	0	0	0	1	0	40	228				
NEK8	284086	broad.mit.edu	37	17	27061014	27061014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27061014T>C	ENST00000268766.6	+	2	95	c.61T>C	c.(61-63)Tgc>Cgc	p.C21R	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	21	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTGCACCTGTGCCTGCGAAA	0.562																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(61-63)Tgc>Cgc		NIMA-related kinase 8							82.0	74.0	77.0					17																	27061014		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061014T>C	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.61T>C	17.37:g.27061014T>C	ENSP00000268766:p.Cys21Arg					NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	p.C21R	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			2	95	+	Lung NSC(42;0.0158)		21			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.61T>C	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.908107	0.72868	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.25579	1.79;1.79	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.58295	-0.7661	10	0.72032	D	0.01	.	13.7609	0.62966	0.0:0.0:0.0:1.0	.	21	Q86SG6	NEK8_HUMAN	R	21	ENSP00000465859:C21R;ENSP00000268766:C21R	ENSP00000268766:C21R	C	+	1	0	NEK8	24085141	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.766000	0.85320	1.840000	0.53500	0.260000	0.18958	TGC		0.562	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			31	152	0	0	0	1	0	31	152				
CTNNA3	29119	broad.mit.edu	37	10	67680191	67680191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:67680191T>C	ENST00000433211.2	-	18	2759	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGCTTCTCTCTTTTAAT	0.468																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(2584-2586)gAg>gGg		catenin (cadherin-associated protein), alpha 3							107.0	110.0	109.0					10																	67680191		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680191T>C	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2585A>G	10.37:g.67680191T>C	ENSP00000389714:p.Glu862Gly					CTNNA3_ENST00000373735.1_Missense_Mutation_p.E201G|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G	p.E862G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			18	2759	-			862						Missense_Mutation	SNP	ENST00000433211.2	37	c.2585A>G	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951743	0.92660	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.51325	1.3;1.3;0.71	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000019	T	0.66327	0.2778	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.68405	-0.5417	10	0.59425	D	0.04	-23.3476	14.3151	0.66443	0.0:0.0:0.0:1.0	.	862	Q9UI47	CTNA3_HUMAN	G	862;862;201	ENSP00000389714:E862G;ENSP00000362849:E862G;ENSP00000362840:E201G	ENSP00000362840:E201G	E	-	2	0	CTNNA3	67350197	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.266000	0.75297	0.533000	0.62120	GAG		0.468	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		126	503	0	0	0	1	0	126	503				
GPR123	84435	broad.mit.edu	37	10	134942098	134942098	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942098C>T	ENST00000392607.3	+	7	1202	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	GPR123_ENST00000607359.1_Silent_p.L975L|GPR123_ENST00000392606.2_Silent_p.L159L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	256					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAGGCACAGCTGCGCGCCGC	0.701																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2923-2925)Ctg>Ttg		G protein-coupled receptor 123							12.0	12.0	12.0					10																	134942098		2183	4284	6467	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942098C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.766C>T	10.37:g.134942098C>T						GPR123_ENST00000392607.3_Silent_p.L256L|GPR123_ENST00000392606.2_Silent_p.L159L	p.L975L			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	2923	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	256					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.2923C>T	CCDS41580.1																																																																																				0.701	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			7	65	0	0	0	1	0	7	65				
CSPG4	1464	broad.mit.edu	37	15	75981992	75981992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981992C>T	ENST00000308508.5	-	3	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	472	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCGGGTCACGCTGAACAGC	0.662																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1414-1416)Gtg>Atg		chondroitin sulfate proteoglycan 4							64.0	60.0	61.0					15																	75981992		2196	4290	6486	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981992C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1414G>A	15.37:g.75981992C>T	ENSP00000312506:p.Val472Met						p.V472M	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1506	-			472			Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1414G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889935	0.33348	.	.	ENSG00000173546	ENST00000308508	T	0.24350	1.86	5.12	4.14	0.48551	.	0.246882	0.28062	N	0.016759	T	0.35653	0.0939	L	0.56769	1.78	0.18873	N	0.999981	D	0.65815	0.995	P	0.54965	0.765	T	0.15321	-1.0441	10	0.72032	D	0.01	.	8.3235	0.32142	0.0:0.7519:0.1604:0.0877	.	472	Q6UVK1	CSPG4_HUMAN	M	472	ENSP00000312506:V472M	ENSP00000312506:V472M	V	-	1	0	CSPG4	73769047	0.989000	0.36119	0.993000	0.49108	0.113000	0.19764	2.504000	0.45416	2.375000	0.81037	0.555000	0.69702	GTG		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		96	681	0	0	0	1	0	96	681				
KIAA1804	84451	broad.mit.edu	37	1	233489598	233489598	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233489598T>A	ENST00000366624.3	+	3	1293	c.1032T>A	c.(1030-1032)taT>taA	p.Y344*	MLK4_ENST00000366623.3_Nonsense_Mutation_p.Y344*	NM_032435.2	NP_115811.2																					AAGTCCCCTATCGGGGCATTG	0.512																																						ENST00000366624.3																			0											c.(1030-1032)taT>taA									103.0	99.0	100.0					1																	233489598		2203	4300	6503	SO:0001587	stop_gained	0							g.chr1:233489598T>A																												ENST00000366624.3:c.1032T>A	1.37:g.233489598T>A	ENSP00000355583:p.Tyr344*					MLK4_ENST00000366623.3_Nonsense_Mutation_p.Y344*	p.Y344*	NM_032435.2	NP_115811.2					3	1293	+									Nonsense_Mutation	SNP	ENST00000366624.3	37	c.1032T>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	38	7.176914	0.98114	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	.	.	.	4.91	-6.63	0.01807	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6719	0.99681	0.0:0.8469:0.0:0.1531	.	.	.	.	X	344	.	ENSP00000355582:Y344X	Y	+	3	2	RP5-862P8.2	231556221	0.509000	0.26163	0.549000	0.28204	0.985000	0.73830	-0.180000	0.09754	-1.575000	0.01655	0.460000	0.39030	TAT		0.512	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			65	387	0	0	0	1	0	65	387				
STON1	11037	broad.mit.edu	37	2	48809668	48809668	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48809668A>G	ENST00000406226.1	+	3	2091	c.1896A>G	c.(1894-1896)gtA>gtG	p.V632V	STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1_ENST00000404752.1_Silent_p.V632V|STON1_ENST00000309835.3_Silent_p.V632V	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	632	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGTGGTATGGAAGATAG	0.418																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1894-1896)gtA>gtG		stonin 1							49.0	48.0	48.0					2																	48809668		2203	4300	6503	SO:0001819	synonymous_variant	11037							g.chr2:48809668A>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1896A>G	2.37:g.48809668A>G						STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1_ENST00000406226.1_Silent_p.V632V|STON1_ENST00000404752.1_Silent_p.V632V	p.V632V					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1906	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.1896A>G	CCDS1841.1																																																																																				0.418	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		56	226	0	0	0	1	0	56	226				
SSC4D	136853	broad.mit.edu	37	7	76024632	76024632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76024632G>A	ENST00000275560.3	-	7	1231	c.884C>T	c.(883-885)aCg>aTg	p.T295M	SRCRB4D_ENST00000492979.2_5'Flank|ZP3_ENST00000336517.4_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCTGTGAGCGTTGGGGGACC	0.627																																						ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(883-885)aCg>aTg		scavenger receptor cysteine rich domain containing, group B (4 domains)							53.0	51.0	52.0					7																	76024632		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76024632G>A																												ENST00000275560.3:c.884C>T	7.37:g.76024632G>A	ENSP00000275560:p.Thr295Met						p.T295M	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			7	1231	-			295						Missense_Mutation	SNP	ENST00000275560.3	37	c.884C>T	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780007	0.31502	.	.	ENSG00000146700	ENST00000275560	T	0.01287	5.05	4.03	4.03	0.46877	Speract/scavenger receptor-related (1);	1.036360	0.07576	N	0.919459	T	0.01353	0.0044	N	0.14661	0.345	0.23435	N	0.99768	P	0.51653	0.947	B	0.39027	0.288	T	0.56463	-0.7975	10	0.46703	T	0.11	.	11.9696	0.53055	0.0:0.0:1.0:0.0	.	295	Q8WTU2	SRB4D_HUMAN	M	295	ENSP00000275560:T295M	ENSP00000275560:T295M	T	-	2	0	SRCRB4D	75862568	0.169000	0.23002	0.256000	0.24389	0.019000	0.09904	2.831000	0.48144	2.523000	0.85059	0.655000	0.94253	ACG		0.627	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			16	302	0	0	0	1	0	16	302				
ZNF160	90338	broad.mit.edu	37	19	53572121	53572121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53572121G>A	ENST00000429604.1	-	7	2081	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ZNF160_ENST00000601421.1_Missense_Mutation_p.R520W|ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W|ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	556					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGAATTCCCCGATGACTTCTA	0.413																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1558-1560)Cgg>Tgg		zinc finger protein 160							85.0	86.0	86.0					19																	53572121		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572121G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1666C>T	19.37:g.53572121G>A	ENSP00000406201:p.Arg556Trp					ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W|ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W|ZNF160_ENST00000429604.1_Missense_Mutation_p.R556W	p.R520W			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2434	-			556					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1558C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098400	0.37048	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07688	3.17;3.17	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	L	0.61036	1.89	0.33412	D	0.578734	P	0.35307	0.494	B	0.30401	0.115	T	0.17653	-1.0362	9	0.87932	D	0	.	11.4708	0.50268	0.0:0.0:1.0:0.0	.	556	Q9HCG1	ZN160_HUMAN	W	556	ENSP00000406201:R556W;ENSP00000409597:R556W	ENSP00000409597:R556W	R	-	1	2	ZNF160	58263933	0.000000	0.05858	0.031000	0.17742	0.021000	0.10359	-1.606000	0.02072	1.221000	0.43506	0.561000	0.74099	CGG		0.413	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		98	442	0	0	0	1	0	98	442				
GABRR3	200959	broad.mit.edu	37	3	97736563	97736563	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97736563G>T	ENST00000472788.1	-	0	243					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGGCACTGGAGACCCTTAAGA	0.353																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							68.0	61.0	63.0					3																	97736563		1832	4101	5933			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97736563G>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97736563G>T								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	243	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.353	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			4	73	1	0	1.024e-07	1	1.06599e-07	4	73				
KCNK3	3777	broad.mit.edu	37	2	26950699	26950699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950699C>T	ENST00000302909.3	+	2	573	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCTGGGCATGCGGCGCGCCGA	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(448-450)Cgg>Tgg		potassium channel, subfamily K, member 3							71.0	66.0	68.0					2																	26950699		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950699C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.448C>T	2.37:g.26950699C>T	ENSP00000306275:p.Arg150Trp						p.R150W	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	573	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		150					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.448C>T	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754335	0.69648	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22945	1.93	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	M	0.83483	2.645	0.47511	D	0.999448	D	0.76494	0.999	D	0.67548	0.952	T	0.55860	-0.8074	10	0.87932	D	0	.	11.7912	0.52070	0.1755:0.8245:0.0:0.0	.	150	O14649	KCNK3_HUMAN	W	27;150	ENSP00000306275:R150W	ENSP00000306275:R150W	R	+	1	2	KCNK3	26804203	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	2.619000	0.88677	0.561000	0.74099	CGG		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		102	480	0	0	0	1	0	102	480				
CELF6	60677	broad.mit.edu	37	15	72582592	72582592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72582592G>A	ENST00000569547.1	-	4	470	c.399C>T	c.(397-399)gaC>gaT	p.D133D	CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000287202.5_Silent_p.D133D|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000543764.2_Silent_p.D18D|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000395258.2_Silent_p.D20D|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	133					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						ACAGCTTTCGGTCCTCTGGGG	0.602																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(397-399)gaC>gaT		CUGBP, Elav-like family member 6							46.0	39.0	42.0					15																	72582592		2199	4297	6496	SO:0001819	synonymous_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72582592G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.399C>T	15.37:g.72582592G>A						CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000543764.2_Silent_p.D18D|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000395258.2_Silent_p.D20D|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	p.D133D	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN			4	653	-			133					B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	37	c.399C>T	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138296	0.37728	.	.	ENSG00000140488	ENST00000379915	.	.	.	5.41	2.5	0.30297	.	.	.	.	.	T	0.60090	0.2242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57015	-0.7883	5	0.45353	T	0.12	-17.7166	8.2792	0.31889	0.2471:0.0:0.7529:0.0	.	.	.	.	I	11	.	ENSP00000369247:T11I	T	-	2	0	CELF6	70369646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.279000	0.51670	0.660000	0.30964	0.561000	0.74099	ACC		0.602	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		17	97	0	0	0	1	0	17	97				
RAD54L	8438	broad.mit.edu	37	1	46733150	46733150	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46733150C>A	ENST00000371975.4	+	9	1585	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	304	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCAAGAACTCTGAGAATCAG	0.502								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(910-912)tCt>tAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							97.0	91.0	93.0					1																	46733150		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46733150C>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.911C>A	1.37:g.46733150C>A	ENSP00000361043:p.Ser304Tyr					RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y	p.S304Y	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	9	1585	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	304			Helicase ATP-binding.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.911C>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981784	0.93044	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93604	-3.25;-3.25	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.054494	0.85682	D	0.000000	D	0.95313	0.8479	M	0.74389	2.26	0.80722	D	1	P;P	0.47841	0.858;0.901	B;P	0.51701	0.25;0.677	D	0.95438	0.8523	10	0.59425	D	0.04	-13.6725	19.0329	0.92965	0.0:1.0:0.0:0.0	.	124;304	G3V1N0;Q92698	.;RAD54_HUMAN	Y	304;304;124	ENSP00000396113:S304Y;ENSP00000361043:S304Y	ENSP00000361043:S304Y	S	+	2	0	RAD54L	46505737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.486000	0.83907	0.561000	0.74099	TCT		0.502	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		81	277	1	0	7.63117e-38	1	9.17446e-38	81	277				
HDC	3067	broad.mit.edu	37	15	50546817	50546817	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50546817C>T	ENST00000267845.3	-	5	888	c.486G>A	c.(484-486)agG>agA	p.R162R	HDC_ENST00000543581.1_Silent_p.R162R	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TTTTGTTCTTCCTTGCTGCCA	0.507																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(484-486)agG>agA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						97.0	89.0	92.0					15																	50546817		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50546817C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.486G>A	15.37:g.50546817C>T						HDC_ENST00000543581.1_Silent_p.R162R	p.R162R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	5	888	-		all_lung(180;0.0138)	162						Silent	SNP	ENST00000267845.3	37	c.486G>A	CCDS10134.1																																																																																				0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			9	274	0	0	0	1	0	9	274				
STX3	6809	broad.mit.edu	37	11	59558002	59558002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59558002G>A	ENST00000337979.4	+	5	847	c.300G>A	c.(298-300)aaG>aaA	p.K100K	STX3_ENST00000535361.1_Silent_p.K100K|STX3_ENST00000529177.1_Silent_p.K100K|STX3_ENST00000437946.2_Silent_p.K3K|STX3_ENST00000300150.7_Silent_p.K69K	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	100					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GCATGGAGAAGCATATTGAAG	0.453																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(298-300)aaG>aaA		syntaxin 3							138.0	116.0	124.0					11																	59558002		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59558002G>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.300G>A	11.37:g.59558002G>A						STX3_ENST00000437946.2_Silent_p.K3K|STX3_ENST00000337979.4_Silent_p.K100K|STX3_ENST00000529177.1_Silent_p.K100K|STX3_ENST00000300150.7_Silent_p.K69K	p.K100K			Q13277	STX3_HUMAN			5	847	+			100					B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.300G>A	CCDS7975.1																																																																																				0.453	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		5	199	0	0	0	1	0	5	199				
NR2E1	7101	broad.mit.edu	37	6	108496126	108496126	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108496126C>T	ENST00000368986.4	+	3	966	c.258C>T	c.(256-258)gaC>gaT	p.D86D	NR2E1_ENST00000368983.3_Splice_Site_p.D123D	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	86					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAAGACGGTAATCAGT	0.458																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.e3+1		nuclear receptor subfamily 2, group E, member 1							131.0	113.0	119.0					6																	108496126		2203	4300	6503	SO:0001630	splice_region_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108496126C>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.259+1C>T	6.37:g.108496126C>T						NR2E1_ENST00000368983.3_Splice_Site_p.D123_splice	p.D86_splice	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	3	966	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	86					Q6ZMP8	Splice_Site	SNP	ENST00000368986.4	37	c.259_splice	CCDS5063.1																																																																																				0.458	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2		Silent	43	209	0	0	0	1	0	43	209				
PGBD5	79605	broad.mit.edu	37	1	230472895	230472895	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230472895C>A	ENST00000525115.1	-	4	850	c.827G>T	c.(826-828)aGc>aTc	p.S276I	PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I|PGBD5_ENST00000530424.1_5'Flank|PGBD5_ENST00000321327.2_Missense_Mutation_p.S375I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	276						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCTGGTGATGCTGGGCCCCGT	0.587																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1123-1125)aGc>aTc		piggyBac transposable element derived 5							108.0	99.0	102.0					1																	230472895		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230472895C>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.827G>T	1.37:g.230472895C>A	ENSP00000431404:p.Ser276Ile					PGBD5_ENST00000525115.1_Missense_Mutation_p.S276I|PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I	p.S375I			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	6	1123	-	Breast(184;0.0397)	Prostate(94;0.167)	276					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1124G>T		.	.	.	.	.	.	.	.	.	.	c	20.5	4.003363	0.74932	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18502	2.21;2.21;2.21	5.21	5.21	0.72293	.	0.086170	0.85682	D	0.000000	T	0.30479	0.0766	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.07009	-1.0795	10	0.48119	T	0.1	-37.2023	18.7377	0.91761	0.0:1.0:0.0:0.0	.	276	Q8N414	PGBD5_HUMAN	I	230;375;276	ENSP00000375733:S230I;ENSP00000322530:S375I;ENSP00000431404:S276I	ENSP00000322530:S375I	S	-	2	0	PGBD5	228539518	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.167000	0.71902	2.409000	0.81822	0.585000	0.79938	AGC		0.587	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		131	399	1	0	5.21138e-58	1	6.5303e-58	131	399				
EHD3	30845	broad.mit.edu	37	2	31457609	31457609	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31457609G>A	ENST00000322054.5	+	1	407	c.122G>A	c.(121-123)cGc>cAc	p.R41H	EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	41					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.R41L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGCATTACCGCTTCCACGAG	0.597																																						ENST00000322054.5																			1	Substitution - Missense(1)	p.R41L(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(121-123)cGc>cAc		EH-domain containing 3							108.0	102.0	104.0					2																	31457609		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31457609G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.122G>A	2.37:g.31457609G>A	ENSP00000327116:p.Arg41His					EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	p.R41H	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			1	407	+	Acute lymphoblastic leukemia(172;0.155)		41					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.122G>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563703	0.65651	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	T;T	0.32753	1.44;2.18	5.0	5.0	0.66597	.	0.047335	0.85682	D	0.000000	T	0.30355	0.0762	M	0.71036	2.16	0.42300	D	0.992178	B;B	0.11235	0.004;0.002	B;B	0.08055	0.001;0.003	T	0.33317	-0.9873	10	0.66056	D	0.02	-24.0634	5.9496	0.19237	0.2233:0.0:0.7767:0.0	.	41;41	B4DFR5;Q9NZN3	.;EHD3_HUMAN	H	41	ENSP00000440685:R41H;ENSP00000327116:R41H	ENSP00000327116:R41H	R	+	2	0	EHD3	31311113	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.609000	0.67661	2.600000	0.87896	0.561000	0.74099	CGC		0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		149	426	0	0	0	1	0	149	426				
ZNF430	80264	broad.mit.edu	37	19	21239790	21239790	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21239790A>G	ENST00000261560.5	+	5	857	c.676A>G	c.(676-678)Att>Gtt	p.I226V	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	226					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACATAAAAGAATTCATATTAG	0.318																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(676-678)Att>Gtt		zinc finger protein 430							38.0	41.0	40.0					19																	21239790		2202	4298	6500	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239790A>G	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.676A>G	19.37:g.21239790A>G	ENSP00000261560:p.Ile226Val						p.I226V	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	857	+			226					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.676A>G	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	1.137	-0.650570	0.03506	.	.	ENSG00000118620	ENST00000261560	T	0.00986	5.47	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05158	-0.105	0.09310	N	1	B;B	0.21225	0.001;0.053	B;B	0.26517	0.002;0.07	T	0.46748	-0.9169	9	0.52906	T	0.07	.	2.3597	0.04304	0.5631:0.0:0.1985:0.2384	.	225;226	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	V	226	ENSP00000261560:I226V	ENSP00000261560:I226V	I	+	1	0	ZNF430	21031630	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.127000	0.10547	-1.622000	0.01560	-1.685000	0.00733	ATT		0.318	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		38	150	0	0	0	1	0	38	150				
PTGER3	5733	broad.mit.edu	37	1	71437417	71437417	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71437417C>T	ENST00000306666.5	-	4	1380		c.e4-1		PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000414819.1_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTTTCATTATCTGTTAGAATA	0.303																																						ENST00000306666.5																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e4-1		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						102.0	110.0	107.0					1																	71437417		2203	4297	6500	SO:0001630	splice_region_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71437417C>T	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1170-1G>A	1.37:g.71437417C>T						PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron		NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN			4	1380	-								B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Splice_Site	SNP	ENST00000306666.5	37		CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260033	0.59321	.	.	ENSG00000050628	ENST00000306666	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3246	0.55003	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTGER3	71210005	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.904000	0.48719	2.605000	0.88082	0.650000	0.86243	.		0.303	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	Intron	13	488	0	0	0	1	0	13	488				
FASN	2194	broad.mit.edu	37	17	80045873	80045873	+	Silent	SNP	G	G	A	rs539431759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045873G>A	ENST00000306749.2	-	18	3041	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	941					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGAAGGCACGGGAGGCCTCCA	0.687													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14662	0.0		0.0	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2821-2823)tcC>tcT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						52.0	51.0	52.0					17																	80045873		2200	4298	6498	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045873G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2823C>T	17.37:g.80045873G>A							p.S941S	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		18	3041	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		941					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2823C>T	CCDS11801.1																																																																																				0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		117	402	0	0	0	1	0	117	402				
PITPNM2	57605	broad.mit.edu	37	12	123485384	123485384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123485384G>A	ENST00000542749.1	-	8	1228	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000280562.5_Missense_Mutation_p.R389C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	389					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCACCCTGGCGGTACAGACCA	0.637																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1165-1167)Cgc>Tgc		phosphatidylinositol transfer protein, membrane-associated 2							51.0	48.0	49.0					12																	123485384		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123485384G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1165C>T	12.37:g.123485384G>A	ENSP00000437611:p.Arg389Cys					PITPNM2_ENST00000542749.1_Missense_Mutation_p.R389C|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C	p.R389C			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	9	1370	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		389					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1165C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045374	0.36085	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47528	2.03;2.03;0.84;2.03	4.51	3.6	0.41247	.	0.826438	0.11094	N	0.600425	T	0.55513	0.1925	L	0.55213	1.73	0.31186	N	0.701536	B;P;P	0.52170	0.007;0.951;0.951	B;P;B	0.51229	0.002;0.663;0.326	T	0.60495	-0.7252	10	0.72032	D	0.01	-14.2141	13.851	0.63496	0.0:0.1552:0.8448:0.0	.	389;389;389	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	C	389;389;110;389	ENSP00000280562:R389C;ENSP00000322218:R389C;ENSP00000376223:R110C;ENSP00000437611:R389C	ENSP00000280562:R389C	R	-	1	0	PITPNM2	122051337	0.760000	0.28428	0.907000	0.35723	0.291000	0.27294	2.792000	0.47837	1.179000	0.42884	0.561000	0.74099	CGC		0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		33	155	0	0	0	1	0	33	155				
GFM1	85476	broad.mit.edu	37	3	158364658	158364658	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158364658A>G	ENST00000486715.1	+	4	851	c.494A>G	c.(493-495)tAc>tGc	p.Y165C	GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C|GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATGAAGCGCTACAACGTTCCG	0.493																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(493-495)tAc>tGc		G elongation factor, mitochondrial 1							166.0	144.0	151.0					3																	158364658		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158364658A>G	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.494A>G	3.37:g.158364658A>G	ENSP00000419038:p.Tyr165Cys					GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C|GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C	p.Y165C	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		4	851	+			165						Missense_Mutation	SNP	ENST00000486715.1	37	c.494A>G	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244912	0.79912	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.74947	-0.89;-0.89;-0.89	5.86	5.86	0.93980	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	H	0.99890	4.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96582	0.9431	10	0.87932	D	0	-16.7381	16.316	0.82928	1.0:0.0:0.0:0.0	.	165;165;165	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	165	ENSP00000419038:Y165C;ENSP00000418755:Y165C;ENSP00000264263:Y165C	ENSP00000264263:Y165C	Y	+	2	0	GFM1	159847352	1.000000	0.71417	0.989000	0.46669	0.641000	0.38312	8.884000	0.92432	2.248000	0.74166	0.524000	0.50904	TAC		0.493	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		7	248	0	0	0	1	0	7	248				
EIF4G1	1981	broad.mit.edu	37	3	184039152	184039152	+	Silent	SNP	G	G	A	rs371776051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039152G>A	ENST00000346169.2	+	10	1051	c.780G>A	c.(778-780)tcG>tcA	p.S260S	EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF4G1_ENST00000392537.2_Silent_p.S173S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000342981.4_Silent_p.S260S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF4G1_ENST00000350481.5_Silent_p.S96S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000411531.1_Silent_p.S220S|EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000424196.1_Silent_p.S267S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.S64S	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	260					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAGCCTTCGTCGCCTTCTC	0.572																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(778-780)tcG>tcA		eukaryotic translation initiation factor 4 gamma, 1		G	,,,,,,	0,4406		0,0,2203	76.0	79.0	78.0		801,801,192,780,780,288,519	-6.9	0.8	3		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	267/1607,267/1607,64/1405,260/1601,260/1600,96/1436,173/1513	184039152	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039152G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.780G>A	3.37:g.184039152G>A						EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000411531.1_Silent_p.S220S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.S173S|EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000424196.1_Silent_p.S267S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF4G1_ENST00000350481.5_Silent_p.S96S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000435046.2_Silent_p.S64S|EIF4G1_ENST00000346169.2_Silent_p.S260S	p.S260S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1194	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		260					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.780G>A	CCDS3259.1																																																																																				0.572	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		9	515	0	0	0	1	0	9	515				
MYCN	4613	broad.mit.edu	37	2	16085728	16085728	+	Missense_Mutation	SNP	C	C	T	rs144939456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16085728C>T	ENST00000281043.3	+	3	1201	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	302					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CATCACTGTGCGTCCCAAGAA	0.582			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(904-906)Cgt>Tgt		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog		C	CYS/ARG	0,4406		0,0,2203	103.0	83.0	90.0		904	4.1	0.9	2	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYCN	NM_005378.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	302/465	16085728	1,13005	2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085728C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.904C>T	2.37:g.16085728C>T	ENSP00000281043:p.Arg302Cys						p.R302C	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1201	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		302					Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.904C>T	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896675	0.52121	0.0	1.16E-4	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.81908	-1.55	4.94	4.05	0.47172	Transcription regulator Myc, N-terminal (1);	1.323720	0.05292	U	0.521372	D	0.91506	0.7318	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82255	-0.0548	10	0.87932	D	0	-8.6368	14.9038	0.70703	0.1445:0.8555:0.0:0.0	.	302	P04198	MYCN_HUMAN	C	302;220	ENSP00000281043:R302C	ENSP00000281043:R302C	R	+	1	0	MYCN	16003179	1.000000	0.71417	0.862000	0.33874	0.447000	0.32167	2.112000	0.41892	1.203000	0.43233	0.655000	0.94253	CGT		0.582	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		36	178	0	0	0	1	0	36	178				
ABCA8	10351	broad.mit.edu	37	17	66903959	66903959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66903959G>T	ENST00000269080.2	-	16	2217	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T	ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T|ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	694					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGCATCAGGGATGTGCTGT	0.333																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2080-2082)Cct>Act		ATP-binding cassette, sub-family A (ABC1), member 8							175.0	164.0	168.0					17																	66903959		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66903959G>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2080C>A	17.37:g.66903959G>T	ENSP00000269080:p.Pro694Thr					ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T|ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T	p.P694T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			16	2217	-	Breast(10;4.56e-13)		694					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2080C>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052592	0.75960	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.68903	-0.36;-0.36	4.9	4.9	0.64082	.	0.000000	0.48286	D	0.000182	D	0.87939	0.6304	H	0.96777	3.88	0.58432	D	0.999999	D;D;P;D;D	0.71674	0.998;0.996;0.758;0.996;0.996	D;D;B;D;D	0.76071	0.987;0.931;0.354;0.969;0.931	D	0.92010	0.5617	10	0.87932	D	0	.	17.2378	0.87004	0.0:0.0:1.0:0.0	.	673;734;734;734;694	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	694;734;673	ENSP00000269080:P694T;ENSP00000402814:P734T	ENSP00000269080:P694T	P	-	1	0	ABCA8	64415554	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.464000	0.53057	2.544000	0.85801	0.655000	0.94253	CCT		0.333	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		37	126	1	0	1.36161e-19	1	1.52027e-19	37	126				
ZNF544	27300	broad.mit.edu	37	19	58757770	58757770	+	Missense_Mutation	SNP	C	C	A	rs150558952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58757770C>A	ENST00000596652.1	+	4	371	c.137C>A	c.(136-138)aCc>aAc	p.T46N	ZNF544_ENST00000600044.1_Missense_Mutation_p.T46N|ZNF544_ENST00000600220.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596825.1_Missense_Mutation_p.T46N|ZNF544_ENST00000415203.2_Missense_Mutation_p.T46N|ZNF544_ENST00000333581.5_Missense_Mutation_p.T46N|ZNF544_ENST00000599227.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596929.1_Missense_Mutation_p.T46N|ZNF544_ENST00000595981.1_Missense_Mutation_p.T46N|ZNF544_ENST00000594384.1_Missense_Mutation_p.T46N|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_De_novo_Start_OutOfFrame|ZNF544_ENST00000269829.4_Missense_Mutation_p.T46N|ZNF544_ENST00000596597.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACACTGGAGACCTGGGAGCAT	0.552																																						ENST00000599953.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18								zinc finger protein 544							130.0	117.0	121.0					19																	58757770		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58757770C>A	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.137C>A	19.37:g.58757770C>A	ENSP00000469635:p.Thr46Asn					ZNF544_ENST00000269829.4_Missense_Mutation_p.T46N|ZNF544_ENST00000333581.5_Missense_Mutation_p.T46N|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.T46N|ZNF544_ENST00000600044.1_Missense_Mutation_p.T46N|ZNF544_ENST00000599227.1_Missense_Mutation_p.T46N|ZNF544_ENST00000595981.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596929.1_Missense_Mutation_p.T46N|ZNF544_ENST00000594384.1_Missense_Mutation_p.T46N|ZNF544_ENST00000600220.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596825.1_Missense_Mutation_p.T46N				Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	0	96	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)						A8K6J1|Q9UEX4	Translation_Start_Site	SNP	ENST00000596652.1	37		CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	0.662	-0.805240	0.02819	.	.	ENSG00000198131	ENST00000269829;ENST00000333581;ENST00000415203	T;T;T	0.01068	5.38;5.38;5.38	2.36	-1.81	0.07882	Krueppel-associated box (4);	.	.	.	.	T	0.00552	0.0018	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.18561	0.022;0.022;0.022	T	0.46289	-0.9202	9	0.02654	T	1	.	4.3261	0.11041	0.3749:0.493:0.0:0.1321	.	46;46;46	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	N	46	ENSP00000269829:T46N;ENSP00000329320:T46N;ENSP00000394341:T46N	ENSP00000269829:T46N	T	+	2	0	ZNF544	63449582	0.206000	0.23470	0.004000	0.12327	0.001000	0.01503	0.209000	0.17435	-0.038000	0.13624	-0.492000	0.04666	ACC		0.552	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		88	455	1	0	1.13027e-35	1	1.35034e-35	88	455				
CCNB1IP1	57820	broad.mit.edu	37	14	20784609	20784609	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20784609A>G	ENST00000398169.3	-	5	690	c.74T>C	c.(73-75)gTc>gCc	p.V25A	CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	25					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCAGGCAGTGACCCATGCATA	0.473			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(73-75)gTc>gCc		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							114.0	102.0	106.0					14																	20784609		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20784609A>G	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.74T>C	14.37:g.20784609A>G	ENSP00000381235:p.Val25Ala					CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A	p.V25A			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	5	690	-	all_cancers(95;0.00092)	all_lung(585;0.235)	25						Missense_Mutation	SNP	ENST00000398169.3	37	c.74T>C	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	A	35	5.475759	0.96291	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665;ENST00000556563	D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	L	0.48642	1.525	0.53005	D	0.999965	D	0.64830	0.994	P	0.60541	0.876	D	0.94325	0.7557	10	0.87932	D	0	-18.525	15.6114	0.76721	1.0:0.0:0.0:0.0	.	25	Q9NPC3	CIP1_HUMAN	A	25;25;25;25;25;25;25;56	ENSP00000381226:V25A;ENSP00000381235:V25A;ENSP00000351810:V25A;ENSP00000337396:V25A;ENSP00000409896:V25A;ENSP00000381229:V25A;ENSP00000452486:V25A	ENSP00000337396:V25A	V	-	2	0	CCNB1IP1	19854449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.302000	0.89953	2.326000	0.78906	0.533000	0.62120	GTC		0.473	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		43	248	0	0	0	1	0	43	248				
STON1	11037	broad.mit.edu	37	2	48808780	48808780	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808780G>T	ENST00000406226.1	+	3	1203	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1_ENST00000404752.1_Missense_Mutation_p.E336D|STON1_ENST00000309835.3_Missense_Mutation_p.E336D	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	336	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAGGTTGAGAACTTCAGTG	0.368																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1006-1008)gaG>gaT		stonin 1							89.0	94.0	92.0					2																	48808780		2201	4300	6501	SO:0001583	missense	11037							g.chr2:48808780G>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1008G>T	2.37:g.48808780G>T	ENSP00000384615:p.Glu336Asp					STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1_ENST00000406226.1_Missense_Mutation_p.E336D|STON1_ENST00000404752.1_Missense_Mutation_p.E336D	p.E336D					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1018	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1008G>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911921	0.52439	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.12039	2.75;2.75;2.75;2.73;2.72;2.73;2.73;2.91	5.45	3.66	0.41972	Stonin homology (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.63428	1.95	0.41356	D	0.987397	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.997;0.963;0.994	T	0.03000	-1.1084	10	0.72032	D	0.01	.	10.8338	0.46675	0.2089:0.0:0.7911:0.0	.	336;336;336	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	D	336	ENSP00000385273:E336D;ENSP00000384615:E336D;ENSP00000310969:E336D;ENSP00000385499:E336D;ENSP00000385701:E336D;ENSP00000378236:E336D;ENSP00000311493:E336D;ENSP00000378234:E336D	ENSP00000310969:E336D	E	+	3	2	STON1-GTF2A1L;STON1	48662284	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.632000	0.37102	0.870000	0.35726	0.591000	0.81541	GAG		0.368	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		116	558	1	0	3.24416e-54	1	4.04889e-54	116	558				
TLR1	7096	broad.mit.edu	37	4	38800334	38800334	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800334G>T	ENST00000502213.2	-	3	348	c.119C>A	c.(118-120)cCt>cAt	p.P40H	TLR1_ENST00000308979.2_Missense_Mutation_p.P40H			Q15399	TLR1_HUMAN	toll-like receptor 1	40					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAGGTCTTTAGGAACGTGGAT	0.323																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(118-120)cCt>cAt		toll-like receptor 1							74.0	81.0	79.0					4																	38800334		2198	4298	6496	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800334G>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.119C>A	4.37:g.38800334G>T	ENSP00000421259:p.Pro40His					TLR1_ENST00000502213.2_Missense_Mutation_p.P40H	p.P40H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	392	-			40					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.119C>A	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365940	0.82463	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861;ENST00000506146	T;T;T;D;D	0.88741	1.76;1.76;3.61;-2.42;-1.63	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000019	D	0.94915	0.8356	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95318	0.8418	10	0.87932	D	0	.	18.7107	0.91655	0.0:0.0:1.0:0.0	.	40	Q15399	TLR1_HUMAN	H	40	ENSP00000354932:P40H;ENSP00000421259:P40H;ENSP00000421856:P40H;ENSP00000423017:P40H;ENSP00000423725:P40H	ENSP00000354932:P40H	P	-	2	0	TLR1	38476729	1.000000	0.71417	0.983000	0.44433	0.025000	0.11179	6.830000	0.75319	2.713000	0.92767	0.655000	0.94253	CCT		0.323	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			83	350	1	0	5.04879e-28	1	5.86081e-28	83	350				
EBLN2	55096	broad.mit.edu	37	3	73111947	73111947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73111947G>A	ENST00000533473.1	+	1	1138	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	239										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TGCAGAATCAGCCATAGGTTG	0.443																																						ENST00000533473.1																			0				endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(715-717)Gcc>Acc		endogenous Bornavirus-like nucleoprotein 2							164.0	168.0	167.0					3																	73111947		1945	4147	6092	SO:0001583	missense	55096						protein binding	g.chr3:73111947G>A		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.715G>A	3.37:g.73111947G>A	ENSP00000432104:p.Ala239Thr					PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	p.A239T	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	1138	+			239					Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	c.715G>A	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810902	0.32053	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.468	0.468	0.16732	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.40498	0.1119	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	D	0.66602	0.945	T	0.22906	-1.0203	7	0.87932	D	0	.	.	.	.	.	239	Q6P2I7	EBLN2_HUMAN	T	239	.	ENSP00000432104:A239T	A	+	1	0	EBLN2	73194637	0.039000	0.19947	0.004000	0.12327	0.004000	0.04260	0.364000	0.20325	0.488000	0.27723	0.491000	0.48974	GCC		0.443	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		141	699	0	0	0	1	0	141	699				
CELSR2	1952	broad.mit.edu	37	1	109808459	109808459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109808459C>T	ENST00000271332.3	+	14	5891	c.5830C>T	c.(5830-5832)Cca>Tca	p.P1944S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1944	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGCCAGTGTCCATGCAAGCC	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(5830-5832)Cca>Tca		cadherin, EGF LAG seven-pass G-type receptor 2							67.0	61.0	63.0					1																	109808459		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109808459C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5830C>T	1.37:g.109808459C>T	ENSP00000271332:p.Pro1944Ser						p.P1944S	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	14	5891	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1944			Laminin EGF-like.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5830C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666778	0.47677	.	.	ENSG00000143126	ENST00000271332	T	0.60424	0.19	4.6	4.6	0.57074	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.23210	0.0561	L	0.27944	0.81	0.43426	D	0.995586	B	0.14012	0.009	B	0.19666	0.026	T	0.06303	-1.0834	9	0.07990	T	0.79	.	11.7701	0.51953	0.0:0.9136:0.0:0.0864	.	1944	Q9HCU4	CELR2_HUMAN	S	1944	ENSP00000271332:P1944S	ENSP00000271332:P1944S	P	+	1	0	CELSR2	109609982	0.772000	0.28567	0.997000	0.53966	0.984000	0.73092	5.881000	0.69706	2.387000	0.81309	0.462000	0.41574	CCA		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		52	177	0	0	0	1	0	52	177				
MAP3K1	4214	broad.mit.edu	37	5	56177918	56177918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177918G>T	ENST00000399503.3	+	14	2891	c.2891G>T	c.(2890-2892)aGt>aTt	p.S964I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	964					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACCCCACAGTCAGTGTTTG	0.453																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2890-2892)aGt>aTt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							113.0	111.0	111.0					5																	56177918		1912	4145	6057	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177918G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2891G>T	5.37:g.56177918G>T	ENSP00000382423:p.Ser964Ile						p.S964I	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	2891	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	964						Missense_Mutation	SNP	ENST00000399503.3	37	c.2891G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475157	0.63737	.	.	ENSG00000095015	ENST00000399503	T	0.37235	1.21	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.54323	1.7	0.54753	D	0.999986	P	0.47409	0.895	P	0.47470	0.548	T	0.43653	-0.9378	10	0.72032	D	0.01	.	14.4987	0.67707	0.0703:0.0:0.9297:0.0	.	964	Q13233	M3K1_HUMAN	I	964	ENSP00000382423:S964I	ENSP00000382423:S964I	S	+	2	0	MAP3K1	56213675	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.230000	0.65321	1.421000	0.47157	0.655000	0.94253	AGT		0.453	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		100	340	1	0	7.2861e-57	1	9.12103e-57	100	340				
RASD1	51655	broad.mit.edu	37	17	17399311	17399311	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17399311C>T	ENST00000225688.3	-	1	396	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RASD1_ENST00000579152.1_Missense_Mutation_p.R62H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	62					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GTAGAACTTGCGGTGGAAGTC	0.647																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(184-186)cGc>cAc		RAS, dexamethasone-induced 1							140.0	120.0	127.0					17																	17399311		2203	4300	6503	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17399311C>T	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.185G>A	17.37:g.17399311C>T	ENSP00000225688:p.Arg62His					RASD1_ENST00000579152.1_Missense_Mutation_p.R62H	p.R62H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			1	396	-			62					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.185G>A	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598634	0.66332	.	.	ENSG00000108551	ENST00000225688	T	0.80033	-1.33	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90983	0.4829	10	0.56958	D	0.05	.	16.8723	0.86043	0.0:1.0:0.0:0.0	.	62	Q9Y272	RASD1_HUMAN	H	62	ENSP00000225688:R62H	ENSP00000225688:R62H	R	-	2	0	RASD1	17340036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.539000	0.82063	2.199000	0.70637	0.655000	0.94253	CGC		0.647	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		18	422	0	0	0	1	0	18	422				
COG7	91949	broad.mit.edu	37	16	23430028	23430028	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23430028A>G	ENST00000307149.5	-	8	1315	c.1130T>C	c.(1129-1131)gTg>gCg	p.V377A		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	377					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TACCAGAGGCACAGCACTCAT	0.572																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1129-1131)gTg>gCg		component of oligomeric golgi complex 7							113.0	86.0	95.0					16																	23430028		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23430028A>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1130T>C	16.37:g.23430028A>G	ENSP00000305442:p.Val377Ala						p.V377A	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	8	1315	-			377					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.1130T>C	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826711	0.50739	.	.	ENSG00000168434	ENST00000307149	T	0.52295	0.67	5.73	5.73	0.89815	.	0.165224	0.53938	D	0.000059	T	0.43500	0.1250	L	0.46157	1.445	0.49798	D	0.99982	B	0.29671	0.254	B	0.32342	0.144	T	0.28106	-1.0054	10	0.22706	T	0.39	-14.745	15.1912	0.73047	1.0:0.0:0.0:0.0	.	377	P83436	COG7_HUMAN	A	377	ENSP00000305442:V377A	ENSP00000305442:V377A	V	-	2	0	COG7	23337529	1.000000	0.71417	0.946000	0.38457	0.299000	0.27559	9.290000	0.96065	2.185000	0.69588	0.533000	0.62120	GTG		0.572	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			39	152	0	0	0	1	0	39	152				
GAS2	2620	broad.mit.edu	37	11	22696559	22696559	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22696559A>G	ENST00000454584.2	+	2	449	c.144A>G	c.(142-144)ttA>ttG	p.L48L	GAS2_ENST00000433790.1_Splice_Site_p.L48L|GAS2_ENST00000278187.3_Splice_Site_p.L48L|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	48	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCAATCTATTAGGTAAGGTTA	0.393																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.e2+1		growth arrest-specific 2							74.0	73.0	73.0					11																	22696559		2203	4300	6503	SO:0001630	splice_region_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22696559A>G	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.145+1A>G	11.37:g.22696559A>G						GAS2_ENST00000433790.1_Splice_Site_p.L48_splice|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Splice_Site_p.L48_splice	p.L48_splice	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			2	449	+			48			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Splice_Site	SNP	ENST00000454584.2	37	c.145_splice	CCDS7858.1																																																																																				0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	Silent	33	158	0	0	0	1	0	33	158				
IL17RC	84818	broad.mit.edu	37	3	9960032	9960032	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9960032G>A	ENST00000295981.3	+	4	725	c.507G>A	c.(505-507)gaG>gaA	p.E169E	IL17RC_ENST00000413608.1_Silent_p.E98E|IL17RC_ENST00000383812.4_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000403601.3_Silent_p.E98E|IL17RC_ENST00000455057.1_Silent_p.E98E|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	169					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTGGGAAGAGCCTGAAGATG	0.607																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(505-507)gaG>gaA		interleukin 17 receptor C							50.0	56.0	54.0					3																	9960032		2203	4300	6503	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9960032G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.507G>A	3.37:g.9960032G>A						IL17RC_ENST00000413608.1_Silent_p.E98E|IL17RC_ENST00000455057.1_Silent_p.E98E|IL17RC_ENST00000403601.3_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.E98E	p.E169E	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			4	725	+			169					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.507G>A	CCDS2590.1																																																																																				0.607	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		11	50	0	0	0	1	0	11	50				
C2orf88	84281	broad.mit.edu	37	2	191064772	191064772	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191064772A>G	ENST00000340623.4	+	2	597	c.186A>G	c.(184-186)gcA>gcG	p.A62A	C2orf88_ENST00000396974.2_Silent_p.A62A|C2orf88_ENST00000443551.2_Silent_p.A62A|C2orf88_ENST00000409870.1_Silent_p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	62	PKA-RI-binding.					plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						TGGAATATGCACACCGCCTGT	0.468																																						ENST00000340623.4																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(184-186)gcA>gcG		chromosome 2 open reading frame 88							196.0	197.0	197.0					2																	191064772		2001	4168	6169	SO:0001819	synonymous_variant	84281							g.chr2:191064772A>G	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.186A>G	2.37:g.191064772A>G						C2orf88_ENST00000396974.2_Silent_p.A62A|C2orf88_ENST00000443551.2_Silent_p.A62A|C2orf88_ENST00000409870.1_Silent_p.A62A	p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN			2	597	+			62					D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000340623.4	37	c.186A>G	CCDS42792.1																																																																																				0.468	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		149	817	0	0	0	1	0	149	817				
PROP1	5626	broad.mit.edu	37	5	177419780	177419780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177419780C>T	ENST00000308304.2	-	3	919	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	204					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCAGATGGCCGGCAGGGGC	0.627																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(610-612)gGc>gAc		PROP paired-like homeobox 1							32.0	32.0	32.0					5																	177419780		2203	4296	6499	SO:0001583	missense	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419780C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.611G>A	5.37:g.177419780C>T	ENSP00000311290:p.Gly204Asp						p.G204D	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	919	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	204						Missense_Mutation	SNP	ENST00000308304.2	37	c.611G>A	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	7.249	0.602783	0.13939	.	.	ENSG00000175325	ENST00000308304	D	0.88975	-2.45	2.22	1.27	0.21489	.	0.877909	0.09470	N	0.797763	T	0.80281	0.4594	L	0.32530	0.975	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.67522	-0.5649	10	0.38643	T	0.18	-0.2366	5.7454	0.18118	0.318:0.682:0.0:0.0	.	204	O75360	PROP1_HUMAN	D	204	ENSP00000311290:G204D	ENSP00000311290:G204D	G	-	2	0	PROP1	177352386	0.000000	0.05858	0.386000	0.26170	0.021000	0.10359	-0.868000	0.04236	0.455000	0.26910	0.563000	0.77884	GGC		0.627	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		29	73	0	0	0	1	0	29	73				
CIITA	4261	broad.mit.edu	37	16	10996534	10996534	+	Silent	SNP	G	G	A	rs374843831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10996534G>A	ENST00000324288.8	+	8	781	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CIITA_ENST00000381835.5_Silent_p.S167S|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	216					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGTTCCTCGTTGAGCTGCC	0.522			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(646-648)tcG>tcA		class II, major histocompatibility complex, transactivator		G		3,4391	6.2+/-15.9	0,3,2194	145.0	114.0	124.0		648	-6.8	0.0	16		124	0,8600		0,0,4300	no	coding-synonymous	CIITA	NM_000246.3		0,3,6494	AA,AG,GG		0.0,0.0683,0.0231		216/1131	10996534	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10996534G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.648G>A	16.37:g.10996534G>A						CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.S167S	p.S216S	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			8	781	+			216					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.648G>A	CCDS10544.1																																																																																				0.522	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		71	286	0	0	0	1	0	71	286				
SVEP1	79987	broad.mit.edu	37	9	113173864	113173864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113173864C>T	ENST00000401783.2	-	37	6463	c.6127G>A	c.(6127-6129)Gca>Aca	p.A2043T	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2020T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2043	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGTAGAATGCAATGTCTCCA	0.552																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6127-6129)Gca>Aca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							46.0	48.0	47.0					9																	113173864		1964	4147	6111	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173864C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6127G>A	9.37:g.113173864C>T	ENSP00000384917:p.Ala2043Thr					SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2020T	p.A2043T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			37	6463	-			2043			Sushi 11.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6127G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701688	0.88924	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.65732	-0.17;-0.17	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73678	-0.3907	10	0.20519	T	0.43	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	2043	Q4LDE5	SVEP1_HUMAN	T	2043;2020	ENSP00000384917:A2043T;ENSP00000363593:A2020T	ENSP00000363593:A2020T	A	-	1	0	SVEP1	112213685	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.816000	0.69222	2.847000	0.97988	0.591000	0.81541	GCA		0.552	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	119	0	0	0	1	0	18	119				
EDN3	1908	broad.mit.edu	37	20	57899506	57899506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57899506G>A	ENST00000337938.2	+	5	1095	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EDN3_ENST00000395654.3_Missense_Mutation_p.A223T|EDN3_ENST00000371028.2_Missense_Mutation_p.A237T|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000311585.7_3'UTR	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	237					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TCAGGAAGGAGCCCCTTAGGA	0.557																																						ENST00000337938.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(709-711)Gcc>Acc		endothelin 3							73.0	75.0	74.0					20																	57899506		2203	4300	6503	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57899506G>A	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.709G>A	20.37:g.57899506G>A	ENSP00000337128:p.Ala237Thr					EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.A237T|EDN3_ENST00000395654.3_Missense_Mutation_p.A223T|EDN3_ENST00000371025.3_3'UTR	p.A237T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN			5	1095	+	all_lung(29;0.0115)		237					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.709G>A	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724016	0.30593	.	.	ENSG00000124205	ENST00000337938;ENST00000371028;ENST00000395654	D;D;D	0.96232	-3.93;-3.93;-3.95	1.63	0.415	0.16411	.	18.429800	0.00357	U	0.000034	D	0.95711	0.8605	N	0.22421	0.69	0.09310	N	1	D;D	0.60575	0.988;0.98	D;P	0.67231	0.95;0.892	D	0.87404	0.2371	10	0.59425	D	0.04	.	4.6525	0.12601	0.0:0.0:0.6297:0.3703	.	223;237	P14138-2;P14138	.;EDN3_HUMAN	T	237;237;223	ENSP00000337128:A237T;ENSP00000360067:A237T;ENSP00000379015:A223T	ENSP00000337128:A237T	A	+	1	0	EDN3	57332901	0.000000	0.05858	0.014000	0.15608	0.333000	0.28666	-0.353000	0.07691	-0.062000	0.13088	0.655000	0.94253	GCC		0.557	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		134	570	0	0	0	1	0	134	570				
DNAH10	196385	broad.mit.edu	37	12	124397810	124397810	+	Missense_Mutation	SNP	C	C	T	rs190094672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124397810C>T	ENST00000409039.3	+	59	9971	c.9946C>T	c.(9946-9948)Cgg>Tgg	p.R3316W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3316					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATGGAGAGGCGGCTGATTGC	0.537													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17413	0.0		0.0	False		,,,				2504	0.0					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9946-9948)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	2,3818		0,2,1908	32.0	34.0	33.0		9946	2.4	0.6	12		33	0,8208		0,0,4104	yes	missense	DNAH10	NM_207437.3	101	0,2,6012	TT,TC,CC		0.0,0.0524,0.0166	probably-damaging	3316/4472	124397810	2,12026	1910	4104	6014	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124397810C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9946C>T	12.37:g.124397810C>T	ENSP00000386770:p.Arg3316Trp						p.R3316W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	59	9971	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3316					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9946C>T	CCDS9255.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	20.8	4.055986	0.76074	5.24E-4	0.0	ENSG00000197653	ENST00000409039	T	0.74526	-0.85	5.43	2.43	0.29744	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	H	0.95917	3.74	0.49130	D	0.999759	D	0.76494	0.999	D	0.68483	0.958	D	0.90043	0.4143	10	0.87932	D	0	.	14.6521	0.68805	0.5145:0.4855:0.0:0.0	.	3316	Q8IVF4	DYH10_HUMAN	W	3316	ENSP00000386770:R3316W	ENSP00000386770:R3316W	R	+	1	2	DNAH10	122963763	0.287000	0.24315	0.572000	0.28498	0.974000	0.67602	0.831000	0.27476	0.193000	0.20303	0.655000	0.94253	CGG		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			13	55	0	0	0	1	0	13	55				
TRIM36	55521	broad.mit.edu	37	5	114462446	114462446	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114462446C>A	ENST00000282369.3	-	10	2062	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N|TRIM36_ENST00000513154.1_Missense_Mutation_p.K635N	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	647	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGTAGGTGACTTGGGTATAA	0.383																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1903-1905)aaG>aaT		tripartite motif containing 36							98.0	99.0	99.0					5																	114462446		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114462446C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1941G>T	5.37:g.114462446C>A	ENSP00000282369:p.Lys647Asn					TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N|TRIM36_ENST00000282369.3_Missense_Mutation_p.K647N	p.K635N			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	10	2231	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	647			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1905G>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860214	0.32884	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.69175	-0.38;-0.38;-0.38	5.73	3.92	0.45320	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.200438	0.51477	D	0.000087	T	0.71846	0.3388	L	0.59436	1.845	0.80722	D	1	D;P	0.58970	0.984;0.91	P;P	0.57679	0.825;0.676	T	0.67921	-0.5545	10	0.26408	T	0.33	.	11.5858	0.50918	0.0:0.8068:0.1251:0.0681	.	635;647	E9PFI8;Q9NQ86	.;TRI36_HUMAN	N	647;635;492	ENSP00000282369:K647N;ENSP00000423934:K635N;ENSP00000424259:K492N	ENSP00000282369:K647N	K	-	3	2	TRIM36	114490345	0.998000	0.40836	0.992000	0.48379	0.109000	0.19521	0.968000	0.29357	0.850000	0.35239	-0.150000	0.13652	AAG		0.383	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		60	255	1	0	2.5401e-28	1	2.95449e-28	60	255				
BLM	641	broad.mit.edu	37	15	91347508	91347508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91347508G>T	ENST00000355112.3	+	19	3788	c.3670G>T	c.(3670-3672)Gaa>Taa	p.E1224*	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1224	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAACTTACAGAAGTCTGCAA	0.388			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3670-3672)Gaa>Taa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							103.0	108.0	106.0					15																	91347508		2198	4298	6496	SO:0001587	stop_gained	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91347508G>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3670G>T	15.37:g.91347508G>T	ENSP00000347232:p.Glu1224*					BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.E1224*	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		19	3788	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1224			HRDC.		Q52M96	Nonsense_Mutation	SNP	ENST00000355112.3	37	c.3670G>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	44	10.542031	0.99424	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	.	.	.	5.91	5.91	0.95273	.	0.278177	0.39544	N	0.001330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-14.6196	17.7921	0.88555	0.0:0.0:1.0:0.0	.	.	.	.	X	1224;854;411	.	ENSP00000347232:E1224X	E	+	1	0	BLM	89148512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.204000	0.65180	2.802000	0.96397	0.655000	0.94253	GAA		0.388	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			139	592	1	0	1.4778e-69	1	1.87562e-69	139	592				
EXD2	55218	broad.mit.edu	37	14	69695578	69695578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69695578G>A	ENST00000409018.3	+	3	507	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000409014.1_Missense_Mutation_p.A2T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	127							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTACAAATGGCCTCCCCAAG	0.498																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(4-6)Gcc>Acc		exonuclease 3'-5' domain containing 2							68.0	63.0	65.0					14																	69695578		2203	4300	6503	SO:0001583	missense	0				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69695578G>A	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.379G>A	14.37:g.69695578G>A	ENSP00000387331:p.Ala127Thr					EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000409018.3_Missense_Mutation_p.A127T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T	p.A2T	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			5	661	+			2					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.4G>A	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649751	0.87958	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.77229	-0.12;-0.6;-0.6;-0.6;-0.6;-0.12;-1.08;-0.6	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.095984	0.64402	D	0.000001	D	0.88800	0.6535	M	0.79123	2.44	0.58432	D	0.999998	D;D	0.89917	1.0;0.988	D;D	0.77557	0.99;0.932	D	0.89341	0.3654	10	0.72032	D	0.01	-13.0244	19.686	0.95979	0.0:0.0:1.0:0.0	.	127;2	G5E947;Q9NVH0	.;EXD2_HUMAN	T	127;127;2;2;2;2;127;2;2	ENSP00000387331:A127T;ENSP00000386915:A2T;ENSP00000386762:A2T;ENSP00000386632:A2T;ENSP00000386839:A2T;ENSP00000313140:A127T;ENSP00000409089:A2T;ENSP00000392177:A2T	ENSP00000193422:A127T	A	+	1	0	EXD2	68765331	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.677000	0.61634	2.659000	0.90383	0.563000	0.77884	GCC		0.498	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			18	186	0	0	0	1	0	18	186				
CLCN6	1185	broad.mit.edu	37	1	11898394	11898394	+	Silent	SNP	C	C	T	rs531440933	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898394C>T	ENST00000346436.6	+	21	2350	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_ENST00000376487.3_Silent_p.S744S|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.S766S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	766					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCAGAGCGCCAGCCAGC	0.642											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		16793	0.002		0.0	False		,,,				2504	0.0					ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2296-2298)agC>agT		chloride channel, voltage-sensitive 6							47.0	47.0	47.0					1																	11898394		2202	4300	6502	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898394C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2298C>T	1.37:g.11898394C>T			OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376496.3_Silent_p.S766S|CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000312413.6_3'UTR	p.S766S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	21	2350	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	766					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.2298C>T	CCDS138.1																																																																																				0.642	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		19	171	0	0	0	1	0	19	171				
PRKDC	5591	broad.mit.edu	37	8	48790367	48790367	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48790367A>C	ENST00000314191.2	-	41	5334	c.5278T>G	c.(5278-5280)Ttg>Gtg	p.L1760V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1761					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCTGTCATCAATTCCAACAAC	0.368								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(5278-5280)Ttg>Gtg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							113.0	108.0	110.0					8																	48790367		1859	4097	5956	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48790367A>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5278T>G	8.37:g.48790367A>C	ENSP00000313420:p.Leu1760Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V|PRKDC_ENST00000523565.1_5'UTR	p.L1760V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			41	5334	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1761					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.5278T>G		.	.	.	.	.	.	.	.	.	.	A	12.51	1.958535	0.34565	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65549	-0.16;-0.16	5.65	3.28	0.37604	Armadillo-like helical (1);Armadillo-type fold (1);	0.082334	0.50627	D	0.000118	T	0.51312	0.1667	L	0.60455	1.87	0.48288	D	0.999628	P;B	0.35411	0.5;0.36	B;B	0.30029	0.11;0.076	T	0.40136	-0.9579	10	0.30078	T	0.28	.	8.6942	0.34284	0.7639:0.0:0.2361:0.0	.	1760;1761	E7EUY0;P78527	.;PRKDC_HUMAN	V	1760	ENSP00000313420:L1760V;ENSP00000345182:L1760V	ENSP00000313420:L1760V	L	-	1	2	PRKDC	48952920	0.086000	0.21541	0.867000	0.34043	0.885000	0.51271	0.440000	0.21592	0.435000	0.26365	0.477000	0.44152	TTG		0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		73	303	0	0	0	1	0	73	303				
SYNE2	23224	broad.mit.edu	37	14	64637136	64637136	+	Missense_Mutation	SNP	C	C	T	rs376008959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64637136C>T	ENST00000344113.4	+	94	17403	c.17191C>T	c.(17191-17193)Cgc>Tgc	p.R5731C	SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C|SYNE2_ENST00000357395.3_Missense_Mutation_p.R2116C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5731					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGCCAGGAGCGCTTCAGCCT	0.512																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6346-6348)Cgc>Tgc		spectrin repeat containing, nuclear envelope 2		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	63.0	72.0		17191,17191	-1.9	0.0	14		72	0,8600		0,0,4300	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	5731/6886,5731/6908	64637136	1,13005	2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64637136C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17191C>T	14.37:g.64637136C>T	ENSP00000341781:p.Arg5731Cys					SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5731C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C|SYNE2_ENST00000554584.1_Intron	p.R2116C			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	95	17490	+			5731					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6346C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118488	0.20877	2.27E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.49139	0.79;4.07;0.8;4.12;4.07	5.68	-1.91	0.07641	.	0.348277	0.24523	N	0.037800	T	0.13457	0.0326	N	0.00841	-1.15	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.16247	-1.0409	10	0.51188	T	0.08	.	4.0351	0.09725	0.103:0.0822:0.2099:0.605	.	2116;119;5731;5731	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5731;2116;5731;2365;2116	ENSP00000350719:R5731C;ENSP00000349969:R2116C;ENSP00000341781:R5731C;ENSP00000450831:R2365C;ENSP00000378249:R2116C	ENSP00000341781:R5731C	R	+	1	0	SYNE2	63706889	0.000000	0.05858	0.002000	0.10522	0.678000	0.39670	-0.932000	0.03963	-0.583000	0.05921	0.555000	0.69702	CGC		0.512	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		25	123	0	0	0	1	0	25	123				
TOX2	84969	broad.mit.edu	37	20	42683164	42683164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683164C>T	ENST00000358131.5	+	5	1112	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q293*|TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q251*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGAACAGAAGCAGGTGAGCCT	0.582																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(904-906)Cag>Tag		TOX high mobility group box family member 2							46.0	41.0	43.0					20																	42683164		2203	4300	6503	SO:0001587	stop_gained	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42683164C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.904C>T	20.37:g.42683164C>T	ENSP00000350849:p.Gln302*					TOX2_ENST00000435864.2_Nonsense_Mutation_p.Q171*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000423191.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000341197.3_Nonsense_Mutation_p.Q293*	p.Q302*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	1112	+		Myeloproliferative disorder(115;0.00452)	302					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Nonsense_Mutation	SNP	ENST00000358131.5	37	c.904C>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.147499	0.98096	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2447	0.89981	0.0:1.0:0.0:0.0	.	.	.	.	X	293;251;251;302;171	.	ENSP00000344724:Q293X	Q	+	1	0	TOX2	42116578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.556000	0.86216	0.650000	0.86243	CAG		0.582	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			27	106	0	0	0	1	0	27	106				
MEGF9	1955	broad.mit.edu	37	9	123384921	123384921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123384921G>A	ENST00000373930.3	-	3	1027	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CTGGCAGACCGATTATTGCAT	0.428																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(916-918)Cgg>Tgg		multiple EGF-like-domains 9							98.0	99.0	99.0					9																	123384921		1977	4168	6145	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123384921G>A	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.916C>T	9.37:g.123384921G>A	ENSP00000363040:p.Arg306Trp					MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	p.R306W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			3	1027	-			306			Laminin EGF-like 3.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.916C>T	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004313	0.93287	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.63913	-0.07;-0.07	5.99	5.99	0.97316	.	0.135560	0.49916	D	0.000131	T	0.79161	0.4399	M	0.71871	2.18	0.45634	D	0.998565	D	0.89917	1.0	D	0.74348	0.983	T	0.78947	-0.2003	10	0.59425	D	0.04	-3.4395	18.6582	0.91462	0.0:0.0:1.0:0.0	.	343	C9J1K8	.	W	306;343	ENSP00000363040:R306W;ENSP00000392666:R343W	ENSP00000363040:R306W	R	-	1	2	MEGF9	122424742	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.816000	0.62642	2.840000	0.97914	0.655000	0.94253	CGG		0.428	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		30	170	0	0	0	1	0	30	170				
CEMP1	752014	broad.mit.edu	37	16	2580903	2580903	+	Missense_Mutation	SNP	C	C	T	rs373411042		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2580903C>T	ENST00000567119.1	-	1	506	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000382350.1_Missense_Mutation_p.A58T|CEMP1_ENST00000565480.1_Intron	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	58						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						TTGACGGCCGCGCACCCCTTA	0.662																																						ENST00000382350.1																			0				lung(1)|skin(1)	2						c.(172-174)Gcg>Acg		cementum protein 1		C	,THR/ALA	0,4086		0,0,2043	38.0	46.0	44.0		,172	-2.6	0.0	16		44	1,8349		0,1,4174	no	utr-3,missense	AMDHD2,CEMP1	NM_001145815.1,NM_001048212.3	,58	0,1,6217	TT,TC,CC		0.012,0.0,0.0080	,benign	,58/248	2580903	1,12435	2043	4175	6218	SO:0001583	missense	752014					cytoplasm		g.chr16:2580903C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.172G>A	16.37:g.2580903C>T	ENSP00000457380:p.Ala58Thr					CEMP1_ENST00000567119.1_Missense_Mutation_p.A58T|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000413459.3_3'UTR	p.A58T			Q6PRD7	CEMP1_HUMAN			1	517	-			58					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.172G>A	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	3.638	-0.074199	0.07184	0.0	1.2E-4	ENSG00000205923	ENST00000382350	T	0.55052	0.54	1.3	-2.59	0.06209	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09530	-1.0670	9	0.87932	D	0	.	3.6591	0.08232	0.0:0.467:0.2191:0.3139	.	58	Q6PRD7	CEMP1_HUMAN	T	58	ENSP00000371787:A58T	ENSP00000371787:A58T	A	-	1	0	CEMP1	2520904	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.467000	0.00229	-1.585000	0.01634	-1.567000	0.00876	GCG		0.662	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		65	250	0	0	0	1	0	65	250				
CCDC42	146849	broad.mit.edu	37	17	8638779	8638779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638779G>T	ENST00000293845.3	-	5	869	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	215										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTTTGCTGCAGGATCTCATCA	0.637																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(643-645)Ctg>Atg		coiled-coil domain containing 42							72.0	66.0	68.0					17																	8638779		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638779G>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.643C>A	17.37:g.8638779G>T	ENSP00000293845:p.Leu215Met					CCDC42_ENST00000539522.2_Intron	p.L215M	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			5	869	-			215	Missing (in Ref. 2; AAH29224).				Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.643C>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658038	0.67586	.	.	ENSG00000161973	ENST00000293845	T	0.36878	1.23	5.52	4.55	0.56014	.	0.000000	0.47455	D	0.000231	T	0.52041	0.1710	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.53927	-0.8369	10	0.62326	D	0.03	-25.5596	13.1418	0.59438	0.0773:0.0:0.9227:0.0	.	215	Q96M95	CCD42_HUMAN	M	215	ENSP00000293845:L215M	ENSP00000293845:L215M	L	-	1	2	CCDC42	8579504	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.336000	0.59304	1.571000	0.49722	0.563000	0.77884	CTG		0.637	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		58	335	1	0	1.78197e-24	1	2.03739e-24	58	335				
RTN4	57142	broad.mit.edu	37	2	55252338	55252338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55252338C>T	ENST00000337526.6	-	3	3140	c.2897G>A	c.(2896-2898)aGc>aAc	p.S966N	RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N|RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000404909.1_Missense_Mutation_p.S760N|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	966					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTAACTATGCTCTCTATCTC	0.403																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2896-2898)aGc>aAc		reticulon 4							137.0	137.0	137.0					2																	55252338		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252338C>T	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2897G>A	2.37:g.55252338C>T	ENSP00000337838:p.Ser966Asn					RTN4_ENST00000404909.1_Missense_Mutation_p.S760N|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000357732.4_Intron	p.S966N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	3140	-			966					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2897G>A	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583026	0.13749	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.20738	2.05;2.05;2.06;2.05;2.05;2.07	5.7	4.81	0.61882	.	5.311810	0.00166	N	0.000000	T	0.28200	0.0696	M	0.64997	1.995	0.21355	N	0.999716	B	0.09022	0.002	B	0.09377	0.004	T	0.40627	-0.9553	10	0.22109	T	0.4	-0.0342	10.6257	0.45506	0.0:0.7981:0.1317:0.0702	.	966	Q9NQC3	RTN4_HUMAN	N	760;760;966;760;760;734	ENSP00000384471:S760N;ENSP00000349944:S760N;ENSP00000337838:S966N;ENSP00000378109:S760N;ENSP00000385650:S760N;ENSP00000346465:S734N	ENSP00000337838:S966N	S	-	2	0	RTN4	55105842	0.939000	0.31865	0.316000	0.25252	0.007000	0.05969	1.391000	0.34475	1.370000	0.46153	0.655000	0.94253	AGC		0.403	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			41	454	0	0	0	1	0	41	454				
TGM4	7047	broad.mit.edu	37	3	44929289	44929289	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44929289T>C	ENST00000296125.4	+	3	368		c.e3+2			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGCAAAGAGGTGAGCACCCAC	0.597																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.e3+2		transglutaminase 4	L-Glutamine(DB00130)						62.0	57.0	59.0					3																	44929289		2203	4300	6503	SO:0001630	splice_region_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44929289T>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.300+2T>C	3.37:g.44929289T>C								NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	3	368	+								Q16707|Q96QN4	Splice_Site	SNP	ENST00000296125.4	37		CCDS2723.1	.	.	.	.	.	.	.	.	.	.	T	6.390	0.440020	0.12104	.	.	ENSG00000163810	ENST00000296125	.	.	.	1.43	0.123	0.14709	.	.	.	.	.	.	.	.	.	.	.	0.23210	N	0.99811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2294	0.10596	0.0:0.0:0.3643:0.6357	.	.	.	.	.	-1	.	.	.	+	.	.	TGM4	44904293	0.905000	0.30787	0.120000	0.21714	0.050000	0.14768	0.458000	0.21892	0.024000	0.15214	0.383000	0.25322	.		0.597	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	Intron	38	153	0	0	0	1	0	38	153				
SMYD1	150572	broad.mit.edu	37	2	88405903	88405903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88405903C>T	ENST00000419482.2	+	8	1126	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	SMYD1_ENST00000444564.2_Silent_p.N334N|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	347					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTGACACCAACATCTACATGC	0.552																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1039-1041)aaC>aaT		SET and MYND domain containing 1							182.0	137.0	152.0					2																	88405903		2203	4300	6503	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88405903C>T	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1041C>T	2.37:g.88405903C>T						SMYD1_ENST00000444564.2_Silent_p.N334N|SMYD1_ENST00000438570.1_Intron	p.N347N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			8	1126	+			347					A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.1041C>T	CCDS33240.1																																																																																				0.552	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		46	233	0	0	0	1	0	46	233				
JAK3	3718	broad.mit.edu	37	19	17943451	17943451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17943451C>T	ENST00000527670.1	-	18	2586	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	JAK3_ENST00000534444.1_Missense_Mutation_p.A853T|JAK3_ENST00000458235.1_Missense_Mutation_p.A853T			P52333	JAK3_HUMAN	Janus kinase 3	853	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTTTCACGGCCACCAGGGCA	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2557-2559)Gcc>Acc		Janus kinase 3							81.0	71.0	75.0					19																	17943451		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17943451C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2557G>A	19.37:g.17943451C>T	ENSP00000432511:p.Ala853Thr					JAK3_ENST00000527670.1_Missense_Mutation_p.A853T|JAK3_ENST00000534444.1_Missense_Mutation_p.A853T	p.A853T	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			19	2656	-			853			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2557G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066950	0.93898	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.95885	-1.38;-1.38;-3.84	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060550	0.64402	D	0.000004	D	0.98124	0.9381	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.74023	0.982;0.92	D	0.98936	1.0789	10	0.87932	D	0	-19.9877	14.7749	0.69724	0.0:1.0:0.0:0.0	.	853;853	P52333-2;P52333	.;JAK3_HUMAN	T	853	ENSP00000391676:A853T;ENSP00000432511:A853T;ENSP00000436421:A853T	ENSP00000391676:A853T	A	-	1	0	JAK3	17804451	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.165000	0.77544	2.433000	0.82419	0.549000	0.68633	GCC		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		115	446	0	0	0	1	0	115	446				
PDZRN3	23024	broad.mit.edu	37	3	73434832	73434832	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73434832G>A	ENST00000263666.4	-	9	1737	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	PDZRN3_ENST00000462146.2_Silent_p.S198S|PDZRN3_ENST00000479530.1_Silent_p.S258S|PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000466780.1_Silent_p.S198S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	541					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGCAGCACGCTAGCTGTGA	0.552																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1621-1623)agC>agT		PDZ domain containing ring finger 3							195.0	146.0	162.0					3																	73434832		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73434832G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1623C>T	3.37:g.73434832G>A						PDZRN3_ENST00000462146.2_Silent_p.S198S|PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000479530.1_Silent_p.S258S|PDZRN3_ENST00000466780.1_Silent_p.S198S	p.S541S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	9	1737	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	541					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1623C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092566	0.08632	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.58	-1.85	0.07784	.	.	.	.	.	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51733	-0.8668	4	.	.	.	.	11.2905	0.49247	0.4454:0.0:0.5546:0.0	.	.	.	.	V	138	.	.	A	-	2	0	PDZRN3	73517522	1.000000	0.71417	0.028000	0.17463	0.442000	0.32017	0.853000	0.27777	-0.792000	0.04480	-0.812000	0.03155	GCG		0.552	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		18	430	0	0	0	1	0	18	430				
RBPJ	3516	broad.mit.edu	37	4	26430396	26430396	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26430396T>G	ENST00000361572.6	+	8	1035	c.841T>G	c.(841-843)Tca>Gca	p.S281A	RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A|RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A|RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000342320.4_Missense_Mutation_p.S267A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	281					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGATCCTGTGTCACAACTCCA	0.313																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(799-801)Tca>Gca		recombination signal binding protein for immunoglobulin kappa J region							60.0	62.0	61.0					4																	26430396		2203	4297	6500	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26430396T>G	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.841T>G	4.37:g.26430396T>G	ENSP00000354528:p.Ser281Ala					RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A|RBPJ_ENST00000361572.6_Missense_Mutation_p.S281A|RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A	p.S267A			Q06330	SUH_HUMAN			8	975	+		Breast(46;0.0503)	281					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.799T>G	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623780	0.87460	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320;ENST00000504423	T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.51	5.51	0.81932	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.76433	2.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.993;0.989;0.989;0.993	T	0.65952	-0.6043	10	0.87932	D	0	-14.0998	15.6036	0.76646	0.0:0.0:0.0:1.0	.	281;267;268;267;266;281	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	A	266;281;281;268;267;246;267;267;19	ENSP00000305815:S266A;ENSP00000345206:S281A;ENSP00000354528:S281A;ENSP00000339699:S268A;ENSP00000347659:S267A;ENSP00000423907:S246A;ENSP00000423703:S267A;ENSP00000340124:S267A;ENSP00000421804:S19A	ENSP00000345206:S281A	S	+	1	0	RBPJ	26039494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.100000	0.63781	0.533000	0.62120	TCA		0.313	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		36	149	0	0	0	1	0	36	149				
DCHS2	54798	broad.mit.edu	37	4	155253943	155253943	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155253943C>T	ENST00000357232.4	-	9	1919	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Silent_p.T1139T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	640	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATCCAGCCCGTGTAAGGGC	0.522																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1918-1920)acG>acA		dachsous cadherin-related 2							49.0	53.0	52.0					4																	155253943		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253943C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1920G>A	4.37:g.155253943C>T						DCHS2_ENST00000339452.1_Silent_p.T1139T	p.T640T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1919	-	all_hematologic(180;0.208)	Renal(120;0.0854)	640			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1920G>A	CCDS3785.1																																																																																				0.522	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		69	253	0	0	0	1	0	69	253				
EFCAB13	124989	broad.mit.edu	37	17	45481348	45481348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45481348G>T	ENST00000331493.2	+	19	2533	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.E612*	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	708						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GTCACCTAAAGAAGAGGTAGA	0.358																																						ENST00000331493.2																			0											c.(2122-2124)Gaa>Taa		EF-hand calcium binding domain 13							83.0	89.0	87.0					17																	45481348		2203	4300	6503	SO:0001587	stop_gained	124989							g.chr17:45481348G>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2122G>T	17.37:g.45481348G>T	ENSP00000332111:p.Glu708*					EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.E612*	p.E708*	NM_152347.4	NP_689560.3					19	2533	+								G3V128|Q49AG9	Nonsense_Mutation	SNP	ENST00000331493.2	37	c.2122G>T	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	38	6.920217	0.97936	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	.	.	.	4.04	1.38	0.22167	.	0.891302	0.09597	N	0.780753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.5919	6.5462	0.22406	0.2344:0.0:0.7656:0.0	.	.	.	.	X	708;612	.	ENSP00000332111:E708X	E	+	1	0	C17orf57	42836347	0.997000	0.39634	0.899000	0.35326	0.648000	0.38561	1.204000	0.32296	0.114000	0.18032	0.586000	0.80456	GAA		0.358	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		82	347	1	0	1.52223e-32	1	1.79814e-32	82	347				
USP20	10868	broad.mit.edu	37	9	132642473	132642473	+	Missense_Mutation	SNP	G	G	A	rs368318142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132642473G>A	ENST00000315480.4	+	25	2824	c.2666G>A	c.(2665-2667)cGc>cAc	p.R889H	USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.R889H|USP20_ENST00000358355.1_Missense_Mutation_p.R889H			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	889	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ATTGCCATCCGCCAGAGTGTG	0.632																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(2665-2667)cGc>cAc		ubiquitin specific peptidase 20		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4126		0,0,2063	31.0	42.0	38.0		2666,2666,2666	5.1	1.0	9		38	1,8401		0,1,4200	no	missense,missense,missense	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	29,29,29	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	889/915,889/915,889/915	132642473	1,12527	2063	4201	6264	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132642473G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2666G>A	9.37:g.132642473G>A	ENSP00000313811:p.Arg889His					USP20_ENST00000372429.3_Missense_Mutation_p.R889H|USP20_ENST00000358355.1_Missense_Mutation_p.R889H|USP20_ENST00000472108.1_3'UTR	p.R889H			Q9Y2K6	UBP20_HUMAN			25	2824	+		Ovarian(14;0.00556)	889			DUSP 2.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2666G>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070762	0.76301	0.0	1.19E-4	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19394	2.15;2.15;2.15	5.11	5.11	0.69529	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52548	-0.8561	10	0.87932	D	0	.	17.5407	0.87846	0.0:0.0:1.0:0.0	.	889	Q9Y2K6	UBP20_HUMAN	H	889	ENSP00000361506:R889H;ENSP00000313811:R889H;ENSP00000351122:R889H	ENSP00000313811:R889H	R	+	2	0	USP20	131682294	1.000000	0.71417	0.981000	0.43875	0.049000	0.14656	9.351000	0.97073	2.387000	0.81309	0.655000	0.94253	CGC		0.632	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			45	172	0	0	0	1	0	45	172				
SCAP	22937	broad.mit.edu	37	3	47467101	47467101	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47467101C>T	ENST00000265565.5	-	8	1323	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	SCAP_ENST00000441517.2_Splice_Site_p.R49Q|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	304	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTCGATCTTCCCTGGAGGGCA	0.652																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.e8-1		SREBF chaperone							72.0	68.0	69.0					3																	47467101		2203	4300	6503	SO:0001630	splice_region_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47467101C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.911-1G>A	3.37:g.47467101C>T						SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Splice_Site_p.R49_splice	p.R304_splice	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	8	1323	-			304			SSD.		Q8N2E0|Q8WUA1	Splice_Site	SNP	ENST00000265565.5	37	c.910_splice	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	37	6.098913	0.97281	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517	D;D	0.93247	-3.19;-3.19	5.42	5.42	0.78866	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	L	0.52364	1.645	0.80722	D	1	P;D	0.54601	0.95;0.967	P;P	0.59288	0.613;0.855	D	0.94139	0.7395	10	0.45353	T	0.12	.	18.9933	0.92803	0.0:1.0:0.0:0.0	.	49;304	F8W921;Q12770	.;SCAP_HUMAN	Q	304;304;49	ENSP00000265565:R304Q;ENSP00000416847:R49Q	ENSP00000265565:R304Q	R	-	2	0	SCAP	47442105	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.413000	0.80104	2.820000	0.97059	0.650000	0.86243	CGG		0.652	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	Missense_Mutation	69	289	0	0	0	1	0	69	289				
PDGFB	5155	broad.mit.edu	37	22	39629477	39629477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39629477G>A	ENST00000331163.6	-	3	1000	c.213C>T	c.(211-213)ggC>ggT	p.G71G	PDGFB_ENST00000381551.4_Silent_p.G56G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	71					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					TCTCCAGCTCGCCTCCAGAGT	0.597			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(211-213)ggC>ggT		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						58.0	59.0	59.0					22																	39629477		2203	4300	6503	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39629477G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.213C>T	22.37:g.39629477G>A						PDGFB_ENST00000381551.4_Silent_p.G56G	p.G71G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			3	1000	-	Melanoma(58;0.04)		71					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.213C>T	CCDS13987.1																																																																																				0.597	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		14	297	0	0	0	1	0	14	297				
SUN1	23353	broad.mit.edu	37	7	881707	881707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:881707C>T	ENST00000405266.1	+	3	415	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000456758.2_Missense_Mutation_p.R189W			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	131	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGACTCGACGGCCTCCTGT	0.557																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(565-567)Cgg>Tgg		Sad1 and UNC84 domain containing 1							80.0	82.0	81.0					7																	881707		2093	4222	6315	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:881707C>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.391C>T	7.37:g.881707C>T	ENSP00000384116:p.Arg131Trp					SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000405266.1_Missense_Mutation_p.R131W|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W	p.R189W			O94901	SUN1_HUMAN			6	565	+			131					A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.565C>T		.	.	.	.	.	.	.	.	.	.	C	16.89	3.248255	0.59103	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000439679;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000450881	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.55	2.37	0.29283	.	1.239010	0.05371	N	0.535383	T	0.62307	0.2417	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D	0.89917	0.964;1.0;1.0;0.993;0.98	P;D;D;P;P	0.75484	0.536;0.939;0.986;0.685;0.502	T	0.35001	-0.9806	10	0.54805	T	0.06	-19.1256	4.5681	0.12196	0.3475:0.4667:0.1049:0.0809	.	131;131;152;81;131	E9PDU4;E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.;.	W	189;81;152;131;131;131;131;131;131;131;81;106	ENSP00000388743:R189W;ENSP00000374225:R81W;ENSP00000395952:R152W;ENSP00000413439:R131W;ENSP00000388430:R131W;ENSP00000413188:R131W;ENSP00000384116:R131W;ENSP00000384015:R131W;ENSP00000383947:R131W;ENSP00000392309:R81W;ENSP00000392595:R106W	ENSP00000297445:R131W	R	+	1	2	SUN1	848233	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.225000	0.09151	0.668000	0.31126	0.563000	0.77884	CGG		0.557	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		56	230	0	0	0	1	0	56	230				
PMS2	5395	broad.mit.edu	37	7	6027116	6027116	+	Missense_Mutation	SNP	C	C	T	rs112902065	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6027116C>T	ENST00000265849.7	-	11	1385	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	PMS2_ENST00000441476.2_Missense_Mutation_p.R321H|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R427H	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	427					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGTTGTGTGACGAAGAGAAAA	0.478			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C|||	4	0.000798722	0.003	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.0					ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1279-1281)cGt>cAt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							52.0	51.0	51.0					7																	6027116		2203	4299	6502	SO:0001583	missense	5395	Turcot 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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6027116C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1280G>A	7.37:g.6027116C>T	ENSP00000265849:p.Arg427His					PMS2_ENST00000406569.3_Missense_Mutation_p.R427H|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.R321H|PMS2_ENST00000469652.1_Intron	p.R427H	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1385	-		Ovarian(82;0.0694)	427					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1280G>A	CCDS5343.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	10.57	1.386024	0.25031	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85955	1.0;1.0;-2.05	5.84	-1.11	0.09840	.	0.746320	0.13341	N	0.395124	T	0.55609	0.1931	N	0.01874	-0.695	0.25367	N	0.988733	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.46345	-0.9198	10	0.27785	T	0.31	-1.5374	12.7236	0.57156	0.0:0.2476:0.0:0.7524	.	427;427;321	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	H	427;380;321;427	ENSP00000265849:R427H;ENSP00000392843:R321H;ENSP00000384308:R427H	ENSP00000265849:R427H	R	-	2	0	PMS2	5993642	0.096000	0.21769	0.045000	0.18777	0.360000	0.29518	0.248000	0.18198	-0.419000	0.07439	-0.827000	0.03088	CGT		0.478	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		40	214	0	0	0	1	0	40	214				
BRD3	8019	broad.mit.edu	37	9	136913496	136913496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913496C>T	ENST00000303407.7	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	BRD3_ENST00000371834.2_Silent_p.P265P|BRD3_ENST00000357885.2_Silent_p.P265P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	265					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGACAACGGCGGGGGCGACT	0.637			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(793-795)ccG>ccA		bromodomain containing 3							43.0	54.0	51.0					9																	136913496		2203	4294	6497	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136913496C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.795G>A	9.37:g.136913496C>T						BRD3_ENST00000371834.2_Silent_p.P265P|BRD3_ENST00000357885.2_Silent_p.P265P	p.P265P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	6	980	-			265					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.795G>A	CCDS6980.1																																																																																				0.637	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		20	354	0	0	0	1	0	20	354				
VWA8	23078	broad.mit.edu	37	13	42149881	42149881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42149881G>T	ENST00000379310.3	-	43	5433	c.5365C>A	c.(5365-5367)Ctg>Atg	p.L1789M		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1789	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTTACCTTCAGAATTTCTAGT	0.373																																						ENST00000379310.3																			0											c.(5365-5367)Ctg>Atg		von Willebrand factor A domain containing 8							113.0	106.0	108.0					13																	42149881		1814	4076	5890	SO:0001583	missense	23078							g.chr13:42149881G>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5365C>A	13.37:g.42149881G>T	ENSP00000368612:p.Leu1789Met						p.L1789M	NM_015058.1	NP_055873.1					43	5433	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.5365C>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880103	0.72294	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.18657	2.2	5.86	5.02	0.67125	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	T	0.44435	0.1293	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41395	-0.9511	10	0.66056	D	0.02	.	14.9613	0.71158	0.0683:0.0:0.9317:0.0	.	1789	A3KMH1	K0564_HUMAN	M	1693;1789	ENSP00000368612:L1789M	ENSP00000251030:L1693M	L	-	1	2	KIAA0564	41047881	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.884000	0.56175	1.491000	0.48482	0.655000	0.94253	CTG		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		42	214	1	0	5.44703e-19	1	6.0629e-19	42	214				
SCN4A	6329	broad.mit.edu	37	17	62021185	62021185	+	Missense_Mutation	SNP	G	G	A	rs121908547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021185G>A	ENST00000435607.1	-	22	4014	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	SCN4A_ENST00000578147.1_Missense_Mutation_p.T1313M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC). {ECO:0000269|PubMed:1310898, ECO:0000269|PubMed:18166706}.		membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T1313M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGTTCCTCCGTCATAAAGAT	0.552																																						ENST00000578147.1																			1	Substitution - Missense(1)	p.T1313M(1)	large_intestine(1)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101	GRCh37	CM941270	SCN4A	M	rs121908547	c.(3937-3939)aCg>aTg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						82.0	85.0	84.0					17																	62021185		2153	4285	6438	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62021185G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3938C>T	17.37:g.62021185G>A	ENSP00000396320:p.Thr1313Met					SCN4A_ENST00000435607.1_Missense_Mutation_p.T1313M	p.T1313M			P35499	SCN4A_HUMAN			22	4014	-			1313		T -> M (in PMC).			Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3938C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074254	0.76415	.	.	ENSG00000007314	ENST00000435607	D	0.97430	-4.38	3.38	3.38	0.38709	.	0.056477	0.64402	N	0.000001	D	0.99064	0.9679	H	0.98738	4.315	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	D	0.98609	1.0662	10	0.72032	D	0.01	.	14.2846	0.66238	0.0:0.0:1.0:0.0	.	1313	P35499	SCN4A_HUMAN	M	1313	ENSP00000396320:T1313M	ENSP00000396320:T1313M	T	-	2	0	SCN4A	59374917	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	9.592000	0.98245	1.903000	0.55091	0.448000	0.29417	ACG		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		22	122	0	0	0	1	0	22	122				
NAGPA	51172	broad.mit.edu	37	16	5083700	5083700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5083700G>A	ENST00000312251.3	-	2	135	c.116C>T	c.(115-117)cCc>cTc	p.P39L	ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	39					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCGTGGATAGGGCAGTAGCAA	0.761																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(115-117)cCc>cTc		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						6.0	9.0	8.0					16																	5083700		1786	3666	5452	SO:0001583	missense	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083700G>A	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.116C>T	16.37:g.5083700G>A	ENSP00000310998:p.Pro39Leu					NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L	p.P39L	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	135	-			39					B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	c.116C>T	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671262	0.88348	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.38240	1.15;1.43	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.96	T	0.63395	-0.6647	10	0.87932	D	0	-24.0811	16.9798	0.86324	0.0:0.0:1.0:0.0	.	39;39	B4DZG9;Q9UK23	.;NAGPA_HUMAN	L	39	ENSP00000310998:P39L;ENSP00000371381:P39L	ENSP00000310998:P39L	P	-	2	0	NAGPA	5023701	1.000000	0.71417	0.967000	0.41034	0.135000	0.20990	7.063000	0.76714	2.414000	0.81942	0.650000	0.86243	CCC		0.761	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		14	92	0	0	0	1	0	14	92				
GABARAPL2	11345	broad.mit.edu	37	16	75600792	75600792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75600792C>T	ENST00000037243.2	+	2	213	c.77C>T	c.(76-78)cCc>cTc	p.P26L	GABARAPL2_ENST00000568455.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	26					autophagy (GO:0006914)|intra-Golgi vesicle-mediated transport (GO:0006891)|negative regulation of proteasomal protein catabolic process (GO:1901799)|positive regulation of ATPase activity (GO:0032781)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular (GO:0005622)	ATPase binding (GO:0051117)|beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)|microtubule binding (GO:0008017)|SNARE binding (GO:0000149)			lung(1)|ovary(1)	2						GCGAAATATCCCGACAGGGTT	0.627																																						ENST00000037243.2																			0				lung(1)|ovary(1)	2						c.(76-78)cCc>cTc		GABA(A) receptor-associated protein-like 2							55.0	50.0	51.0					16																	75600792		2198	4300	6498	SO:0001583	missense	11345				autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding	g.chr16:75600792C>T	AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713			13291	protein-coding gene	gene with protein product		607452				11414770	Standard	NM_007285		Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.77C>T	16.37:g.75600792C>T	ENSP00000037243:p.Pro26Leu					GABARAPL2_ENST00000568455.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L	p.P26L	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN			2	213	+			26					O08765|Q6FG91|Q9DCP8|Q9UQF7	Missense_Mutation	SNP	ENST00000037243.2	37	c.77C>T	CCDS10921.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726844	0.96847	.	.	ENSG00000034713	ENST00000037243	T	0.53857	0.6	5.4	5.4	0.78164	.	0.048229	0.85682	N	0.000000	T	0.67702	0.2921	M	0.88450	2.955	0.80722	D	1	B	0.28082	0.2	B	0.37731	0.257	T	0.71484	-0.4579	10	0.72032	D	0.01	-3.1656	17.7527	0.88439	0.0:1.0:0.0:0.0	.	26	P60520	GBRL2_HUMAN	L	26	ENSP00000037243:P26L	ENSP00000037243:P26L	P	+	2	0	GABARAPL2	74158293	1.000000	0.71417	0.962000	0.40283	0.881000	0.50899	7.115000	0.77110	2.544000	0.85801	0.655000	0.94253	CCC		0.627	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269029.1	NM_007285		68	227	0	0	0	1	0	68	227				
APC2	10297	broad.mit.edu	37	19	1466480	1466480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466480G>A	ENST00000535453.1	+	14	4893	c.3180G>A	c.(3178-3180)gcG>gcA	p.A1060A	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.A786A|APC2_ENST00000233607.2_Silent_p.A1060A			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTGGCGGCGCAAGAGGGGC	0.687																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(3178-3180)gcG>gcA		adenomatosis polyposis coli 2							8.0	11.0	10.0					19																	1466480		2017	4030	6047	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1466480G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3180G>A	19.37:g.1466480G>A						C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.A1060A|APC2_ENST00000238483.4_Silent_p.A786A	p.A1060A			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	4893	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1060			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.3180G>A	CCDS12068.1																																																																																				0.687	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		20	101	0	0	0	1	0	20	101				
PI4KAP1	728233	broad.mit.edu	37	22	20388628	20388628	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20388628C>T	ENST00000430523.3	-	0	1002					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												AGCCGGGAGGCGCAGGATGCG	0.592																																						ENST00000430523.3																			0																																																			0							g.chr22:20388628C>T			22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20388628C>T								NR_003563.1						0	1002	-									RNA	SNP	ENST00000430523.3	37																																																																																						0.592	PI4KAP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319534.5			3	26	0	0	0	1	0	3	26				
DHX30	22907	broad.mit.edu	37	3	47884644	47884644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47884644C>T	ENST00000445061.1	+	9	1245	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	DHX30_ENST00000446256.2_Missense_Mutation_p.L241F|DHX30_ENST00000457607.1_Missense_Mutation_p.L308F|DHX30_ENST00000348968.4_Missense_Mutation_p.L252F	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	280						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTGTCTACACTCACCCTGCT	0.532																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(721-723)Ctc>Ttc		DEAH (Asp-Glu-Ala-His) box helicase 30							156.0	141.0	146.0					3																	47884644		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47884644C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.838C>T	3.37:g.47884644C>T	ENSP00000405620:p.Leu280Phe					DHX30_ENST00000445061.1_Missense_Mutation_p.L280F|DHX30_ENST00000348968.4_Missense_Mutation_p.L252F|DHX30_ENST00000457607.1_Missense_Mutation_p.L308F	p.L241F	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	1293	+			280					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.721C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705149	0.89018	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04706	3.63;3.6;3.62;3.57	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.19287	0.0463	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.996;0.998	T	0.00137	-1.2004	10	0.51188	T	0.08	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	280;241	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	F	241;280;252;308	ENSP00000392601:L241F;ENSP00000405620:L280F;ENSP00000343442:L252F;ENSP00000394682:L308F	ENSP00000343442:L252F	L	+	1	0	DHX30	47859648	1.000000	0.71417	0.975000	0.42487	0.975000	0.68041	5.579000	0.67457	2.451000	0.82905	0.591000	0.81541	CTC		0.532	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		102	503	0	0	0	1	0	102	503				
TYW1	55253	broad.mit.edu	37	7	66489989	66489989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66489989G>A	ENST00000359626.5	+	7	1128	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	322					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAAAATTATGGATCATGTGAA	0.408																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(964-966)Gat>Aat		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							141.0	136.0	138.0					7																	66489989		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66489989G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.964G>A	7.37:g.66489989G>A	ENSP00000352645:p.Asp322Asn						p.D322N	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			7	1128	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	322					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.964G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033688	0.02029	.	.	ENSG00000198874	ENST00000359626	T	0.16457	2.34	4.66	0.307	0.15811	.	0.696409	0.12879	N	0.431594	T	0.05640	0.0148	N	0.02916	-0.46	0.22541	N	0.99901	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	10	0.09590	T	0.72	.	7.7957	0.29146	0.5755:0.0:0.4245:0.0	.	322	Q9NV66	TYW1_HUMAN	N	322	ENSP00000352645:D322N	ENSP00000352645:D322N	D	+	1	0	TYW1	66127424	0.798000	0.28890	0.135000	0.22099	0.494000	0.33585	1.228000	0.32588	-0.153000	0.11137	0.313000	0.20887	GAT		0.408	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		88	370	0	0	0	1	0	88	370				
AGAP7P	653268	broad.mit.edu	37	10	51465371	51465371	+	Missense_Mutation	SNP	G	G	A	rs77023418	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465371G>A	ENST00000374095.5	-	7	1210	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		362	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGGGATGGTGGTGCTGGA	0.522																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1084-1086)aCc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							70.0	85.0	80.0					10																	51465371		2200	4282	6482	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465371G>A																												ENST00000374095.5:c.1085C>T	10.37:g.51465371G>A	ENSP00000363208:p.Thr362Ile						p.T362I	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1210	-			362			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1085C>T	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.113683	0.37339	.	.	ENSG00000204169	ENST00000374095	T	0.55052	0.54	.	.	.	Pleckstrin homology domain (3);	0.394968	0.26765	N	0.022613	T	0.50871	0.1641	M	0.64997	1.995	0.43133	D	0.994876	P	0.48230	0.907	P	0.48738	0.588	T	0.45131	-0.9282	9	0.44086	T	0.13	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	362	Q5VUJ5	AGAP7_HUMAN	I	362	ENSP00000363208:T362I	ENSP00000363208:T362I	T	-	2	0	AGAP7	51135377	1.000000	0.71417	0.035000	0.18076	0.035000	0.12851	3.648000	0.54410	0.172000	0.19760	0.175000	0.17021	ACC		0.522	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			196	808	0	0	0	1	0	196	808				
INTS7	25896	broad.mit.edu	37	1	212148514	212148514	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212148514G>T	ENST00000366994.3	-	13	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000440600.2_Silent_p.S554S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	603					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTACTGTTAAGGAAGCAATCC	0.373																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1807-1809)tcC>tcA		integrator complex subunit 7							64.0	61.0	62.0					1																	212148514		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212148514G>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1809C>A	1.37:g.212148514G>T						INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000440600.2_Silent_p.S554S|INTS7_ENST00000469606.1_5'UTR	p.S603S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	13	1913	-			603					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.1809C>A	CCDS1501.1																																																																																				0.373	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		52	167	1	0	9.59835e-30	1	1.1228e-29	52	167				
RGS12	6002	broad.mit.edu	37	4	3318639	3318639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318639G>A	ENST00000344733.5	+	2	1646	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RGS12_ENST00000382788.3_Missense_Mutation_p.E248K|RGS12_ENST00000543385.1_Missense_Mutation_p.E248K|RGS12_ENST00000336727.3_Missense_Mutation_p.E248K	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	248	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCCAACCTGGAGTCCGACAG	0.537																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(742-744)Gag>Aag		regulator of G-protein signaling 12							48.0	47.0	47.0					4																	3318639		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318639G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.742G>A	4.37:g.3318639G>A	ENSP00000339381:p.Glu248Lys					RGS12_ENST00000382788.3_Missense_Mutation_p.E248K|RGS12_ENST00000344733.5_Missense_Mutation_p.E248K|RGS12_ENST00000543385.1_Missense_Mutation_p.E248K	p.E248K	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1646	+			248			PID.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.742G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058037	0.76074	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.19394	2.15;2.55;2.55;2.55	4.54	3.69	0.42338	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.941;0.997;0.999	T	0.41805	-0.9488	10	0.39692	T	0.17	-39.8041	13.7741	0.63044	0.0:0.1547:0.8453:0.0	.	248;248;248	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	K	248	ENSP00000440566:E248K;ENSP00000339381:E248K;ENSP00000338509:E248K;ENSP00000372238:E248K	ENSP00000338509:E248K	E	+	1	0	RGS12	3288437	1.000000	0.71417	0.789000	0.31954	0.607000	0.37147	9.493000	0.97960	0.889000	0.36185	0.491000	0.48974	GAG		0.537	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		19	381	0	0	0	1	0	19	381				
THSD7A	221981	broad.mit.edu	37	7	11632901	11632901	+	Missense_Mutation	SNP	A	A	C	rs536193671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11632901A>C	ENST00000423059.4	-	3	1502	c.1251T>G	c.(1249-1251)gaT>gaG	p.D417E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	417					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGACAACTCCATCTCCTTGAG	0.443										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1249-1251)gaT>gaG		thrombospondin, type I, domain containing 7A							88.0	84.0	85.0					7																	11632901		1904	4129	6033	SO:0001583	missense	221981					integral to membrane		g.chr7:11632901A>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1251T>G	7.37:g.11632901A>C	ENSP00000406482:p.Asp417Glu	HNSCC(18;0.044)					p.D417E	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	3	1502	-			417						Missense_Mutation	SNP	ENST00000423059.4	37	c.1251T>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.406718	0.01155	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58652	0.32	5.41	0.0744	0.14395	.	0.089564	0.85682	N	0.000000	T	0.30792	0.0776	N	0.20445	0.575	0.41229	D	0.986567	B	0.02656	0.0	B	0.11329	0.006	T	0.31166	-0.9953	10	0.02654	T	1	.	6.6762	0.23095	0.5439:0.1212:0.3349:0.0	.	417	Q9UPZ6	THS7A_HUMAN	E	417	ENSP00000406482:D417E	ENSP00000262042:D417E	D	-	3	2	THSD7A	11599426	0.000000	0.05858	0.185000	0.23176	0.032000	0.12392	-0.361000	0.07612	-0.210000	0.10140	-0.361000	0.07541	GAT		0.443	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		48	177	0	0	0	1	0	48	177				
CYP4F11	57834	broad.mit.edu	37	19	16034677	16034677	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16034677T>G	ENST00000402119.4	-	6	1289	c.863A>C	c.(862-864)aAg>aCg	p.K288T	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Missense_Mutation_p.K288T|CYP4F11_ENST00000248041.8_Missense_Mutation_p.K288T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCTTGTTCTTGAGGAAATC	0.517																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(862-864)aAg>aCg		cytochrome P450, family 4, subfamily F, polypeptide 11							128.0	120.0	123.0					19																	16034677		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16034677T>G	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.863A>C	19.37:g.16034677T>G	ENSP00000384588:p.Lys288Thr					CYP4F11_ENST00000402119.3_Missense_Mutation_p.K288T|CYP4F11_ENST00000248041.7_Missense_Mutation_p.K288T	p.K288T			Q9HBI6	CP4FB_HUMAN			6	864	-			288						Missense_Mutation	SNP	ENST00000402119.4	37	c.863A>C	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	t	13.56	2.275051	0.40194	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.69806	-0.43;-0.43;0.09	2.67	0.362	0.16113	.	0.189124	0.31347	U	0.007806	T	0.53367	0.1792	L	0.35854	1.095	0.09310	N	1	B;B	0.24675	0.109;0.079	B;B	0.35727	0.209;0.141	T	0.49679	-0.8914	10	0.59425	D	0.04	.	3.7117	0.08423	0.0:0.1429:0.2268:0.6303	.	288;288	F8W978;Q9HBI6	.;CP4FB_HUMAN	T	288	ENSP00000384588:K288T;ENSP00000248041:K288T;ENSP00000319859:K288T	ENSP00000248041:K288T	K	-	2	0	CYP4F11	15895677	0.887000	0.30362	0.029000	0.17559	0.308000	0.27856	1.765000	0.38481	0.216000	0.20781	0.254000	0.18369	AAG		0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		167	680	0	0	0	1	0	167	680				
FAT1	2195	broad.mit.edu	37	4	187534419	187534419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187534419C>A	ENST00000441802.2	-	13	9516	c.9307G>T	c.(9307-9309)Gga>Tga	p.G3103*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3103	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCTTCCTCCTCCATCTGTG	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9307-9309)Gga>Tga		FAT atypical cadherin 1							89.0	95.0	93.0					4																	187534419		2040	4183	6223	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187534419C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9307G>T	4.37:g.187534419C>A	ENSP00000406229:p.Gly3103*	HNSCC(5;0.00058)					p.G3103*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			13	9516	-			3103			Cadherin 28.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.9307G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	50	16.944003	0.99875	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.19	5.19	0.71726	.	0.051105	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	.	.	.	X	3103;3105	.	ENSP00000260147:G3105X	G	-	1	0	FAT1	187771413	1.000000	0.71417	0.984000	0.44739	0.031000	0.12232	7.638000	0.83328	2.712000	0.92718	0.609000	0.83330	GGA		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		67	266	1	0	7.59065e-32	1	8.94676e-32	67	266				
PCSK5	5125	broad.mit.edu	37	9	78804038	78804038	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78804038C>T	ENST00000545128.1	+	19	2947	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	PCSK5_ENST00000376752.4_Silent_p.C803C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	803	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATTAACTGCACAGAGGGCT	0.458																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2407-2409)tgC>tgT		proprotein convertase subtilisin/kexin type 5							116.0	98.0	104.0					9																	78804038		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78804038C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2409C>T	9.37:g.78804038C>T						PCSK5_ENST00000376752.4_Silent_p.C803C	p.C803C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			19	2947	+			803			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.2409C>T	CCDS55320.1																																																																																				0.458	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				61	256	0	0	0	1	0	61	256				
SRRT	51593	broad.mit.edu	37	7	100482962	100482962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482962C>A	ENST00000347433.4	+	10	1446	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	SRRT_ENST00000432932.1_Missense_Mutation_p.P429T|SRRT_ENST00000457580.2_Missense_Mutation_p.P430T|SRRT_ENST00000388793.4_Missense_Mutation_p.P429T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	430					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAACATCGCGCCCAACATCTC	0.642																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1285-1287)Ccc>Acc		serrate RNA effector molecule homolog (Arabidopsis)							44.0	44.0	44.0					7																	100482962		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482962C>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1288C>A	7.37:g.100482962C>A	ENSP00000314491:p.Pro430Thr					SRRT_ENST00000347433.4_Missense_Mutation_p.P430T|SRRT_ENST00000432932.1_Missense_Mutation_p.P429T|SRRT_ENST00000457580.2_Missense_Mutation_p.P430T	p.P429T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			10	1505	+			430					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1285C>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774444	0.90108	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.994	T	0.72134	-0.4382	10	0.72032	D	0.01	.	15.8215	0.78648	0.0:1.0:0.0:0.0	.	429;429;430;430	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	430;429;429;430;60	ENSP00000416553:P430T;ENSP00000373445:P429T;ENSP00000391852:P429T;ENSP00000314491:P430T	ENSP00000314491:P430T	P	+	1	0	SRRT	100320898	1.000000	0.71417	0.985000	0.45067	0.932000	0.56968	6.751000	0.74893	2.595000	0.87683	0.655000	0.94253	CCC		0.642	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		89	292	1	0	2.02726e-29	1	2.36871e-29	89	292				
CDCA2	157313	broad.mit.edu	37	8	25364262	25364262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25364262G>A	ENST00000330560.3	+	15	2557	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	694					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATTCCAAAAGCAAAAAATAA	0.338																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2080-2082)Gca>Aca		cell division cycle associated 2							32.0	34.0	33.0					8																	25364262		2194	4296	6490	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364262G>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2080G>A	8.37:g.25364262G>A	ENSP00000328228:p.Ala694Thr					CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T|CDCA2_ENST00000521098.2_3'UTR	p.A694T	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	2557	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	694					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.2080G>A	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.46063	0.88;0.88	4.63	3.75	0.43078	.	0.677027	0.14755	N	0.300370	T	0.38931	0.1059	L	0.48642	1.525	0.20975	N	0.999814	P;P	0.46912	0.886;0.886	P;P	0.44673	0.457;0.457	T	0.18429	-1.0337	10	0.49607	T	0.09	-8.0648	8.8171	0.35002	0.1032:0.0:0.8968:0.0	.	679;694	E9PEI0;Q69YH5	.;CDCA2_HUMAN	T	694;679;93	ENSP00000328228:A694T;ENSP00000370040:A679T	ENSP00000328228:A694T	A	+	1	0	CDCA2	25420179	0.128000	0.22383	0.589000	0.28718	0.117000	0.20001	1.297000	0.33400	1.323000	0.45263	0.650000	0.86243	GCA		0.338	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		49	204	0	0	0	1	0	49	204				
GLI2	2736	broad.mit.edu	37	2	121744055	121744055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121744055C>T	ENST00000452319.1	+	13	2218	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_ENST00000361492.4_Missense_Mutation_p.R720C|GLI2_ENST00000314490.11_Missense_Mutation_p.R392C					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCTGCGCAAACACAT	0.657																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2158-2160)Cgc>Tgc		GLI family zinc finger 2							60.0	57.0	58.0					2																	121744055		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121744055C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2158C>T	2.37:g.121744055C>T	ENSP00000390436:p.Arg720Cys					GLI2_ENST00000314490.11_Missense_Mutation_p.R392C|GLI2_ENST00000361492.4_Missense_Mutation_p.R720C	p.R720C			P10070	GLI2_HUMAN			13	2218	+	Renal(3;0.0496)	Prostate(154;0.0623)	720						Missense_Mutation	SNP	ENST00000452319.1	37	c.2158C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030883	0.75504	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18960	2.18;2.18;2.19	4.97	4.97	0.65823	.	0.052506	0.64402	D	0.000001	T	0.50820	0.1638	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.99;0.977	T	0.57579	-0.7787	10	0.87932	D	0	.	13.2166	0.59863	0.1984:0.8016:0.0:0.0	.	720;375;375;392	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	720;720;392	ENSP00000390436:R720C;ENSP00000354586:R720C;ENSP00000312694:R392C	ENSP00000312694:R392C	R	+	1	0	GLI2	121460525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.359000	0.44142	2.578000	0.87016	0.650000	0.86243	CGC		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		18	242	0	0	0	1	0	18	242				
RIC1	57589	broad.mit.edu	37	9	5754862	5754862	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5754862G>T	ENST00000414202.2	+	15	1815	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C|KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATCGTGACAGGTGGCTTAGC	0.284																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1624-1626)Ggt>Tgt		KIAA1432							84.0	86.0	85.0					9																	5754862		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5754862G>T																												ENST00000414202.2:c.1624G>T	9.37:g.5754862G>T	ENSP00000416696:p.Gly542Cys					KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C	p.G542C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	15	1815	+		Acute lymphoblastic leukemia(23;0.154)	542						Missense_Mutation	SNP	ENST00000414202.2	37	c.1624G>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556094|4.556094	0.86231|0.86231	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83312|0.83312	0.5227|0.5227	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.85636|0.85636	0.1273|0.1273	10|5	0.56958|.	D|.	0.05|.	-16.3166|-16.3166	18.6183|18.6183	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	426;463;542;542|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	C|M	542;542;463;463;426|433	ENSP00000251879:G542C;ENSP00000416696:G542C;ENSP00000370943:G463C;ENSP00000402240:G463C|.	ENSP00000251879:G542C|.	G|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5744862|5744862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.184000|9.184000	0.94893|0.94893	2.379000|2.379000	0.81126|0.81126	0.650000|0.650000	0.86243|0.86243	GGT|AGG		0.284	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			34	383	1	0	8.73648e-17	1	9.61379e-17	34	383				
BMPR2	659	broad.mit.edu	37	2	203395674	203395674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203395674C>T	ENST00000374580.4	+	8	1664	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	BMPR2_ENST00000374574.2_Silent_p.S375S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAGCCATAAGCGAGGTGAGTG	0.438																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(1123-1125)agC>agT		bone morphogenetic protein receptor, type II (serine/threonine kinase)							69.0	68.0	68.0					2																	203395674		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203395674C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1125C>T	2.37:g.203395674C>T						BMPR2_ENST00000374574.2_Silent_p.S375S	p.S375S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			8	1664	+			375			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.1125C>T	CCDS33361.1																																																																																				0.438	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		19	222	0	0	0	1	0	19	222				
FRAS1	80144	broad.mit.edu	37	4	79403572	79403572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79403572C>T	ENST00000264895.6	+	58	9075	c.8635C>T	c.(8635-8637)Cag>Tag	p.Q2879*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2875	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGATGACACTCAGTATCCGGT	0.458																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8635-8637)Cag>Tag		Fraser syndrome 1							227.0	228.0	228.0					4																	79403572		1932	4137	6069	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403572C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8635C>T	4.37:g.79403572C>T	ENSP00000264895:p.Gln2879*						p.Q2879*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			58	9075	+			2874			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	c.8635C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.690586|9.690586	0.99240|0.99240	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.059791|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76990	.|0.4065	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74124	.|-0.3766	.|4	0.40728|.	T|.	0.16|.	.|.	20.3088|20.3088	0.98641|0.98641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2879|1107	.|.	ENSP00000264895:Q2879X|.	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79622596|79622596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.529000|7.529000	0.81952|0.81952	2.805000|2.805000	0.96524|0.96524	0.579000|0.579000	0.79373|0.79373	CAG|TCA		0.458	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				192	805	0	0	0	1	0	192	805				
GBF1	8729	broad.mit.edu	37	10	104121533	104121533	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104121533A>G	ENST00000369983.3	+	14	1807	c.1547A>G	c.(1546-1548)gAg>gGg	p.E516G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	516					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGCCTTATGAGATGAAGGAG	0.473																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1546-1548)gAg>gGg		golgi brefeldin A resistant guanine nucleotide exchange factor 1							137.0	121.0	126.0					10																	104121533		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104121533A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1547A>G	10.37:g.104121533A>G	ENSP00000359000:p.Glu516Gly						p.E516G	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	14	1807	+		Colorectal(252;0.0236)	516					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1547A>G	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	33	5.211557	0.95069	.	.	ENSG00000107862	ENST00000369983	T	0.47528	0.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.90425	3.115	0.80722	D	1	D;P;D	0.89917	1.0;0.832;1.0	D;P;D	0.91635	0.999;0.741;0.998	T	0.80082	-0.1531	10	0.62326	D	0.03	-20.0851	16.8222	0.85835	1.0:0.0:0.0:0.0	.	516;516;516	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	G	516	ENSP00000359000:E516G	ENSP00000359000:E516G	E	+	2	0	GBF1	104111523	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.305000	0.96197	2.371000	0.80710	0.533000	0.62120	GAG		0.473	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			56	303	0	0	0	1	0	56	303				
RAB28	9364	broad.mit.edu	37	4	13370206	13370206	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13370206T>G	ENST00000330852.5	-	7	856	c.642A>C	c.(640-642)agA>agC	p.R214S	RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	214					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						ACATAGAGCTTCTAGGAGGGT	0.453																																						ENST00000330852.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(640-642)agA>agC		RAB28, member RAS oncogene family							166.0	148.0	154.0					4																	13370206		2203	4300	6503	SO:0001583	missense	0				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13370206T>G	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.642A>C	4.37:g.13370206T>G	ENSP00000328551:p.Arg214Ser					RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR	p.R214S	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN			7	856	-			214					G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	37	c.642A>C	CCDS33961.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796757	0.50208	.	.	ENSG00000157869	ENST00000330852	T	0.69040	-0.37	6.07	-1.16	0.09678	.	0.111387	0.64402	N	0.000013	T	0.45875	0.1364	L	0.27053	0.805	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.07177	-1.0786	10	0.45353	T	0.12	.	6.2495	0.20837	0.0:0.1625:0.2382:0.5993	.	214	P51157	RAB28_HUMAN	S	214	ENSP00000328551:R214S	ENSP00000328551:R214S	R	-	3	2	RAB28	12979304	0.909000	0.30893	0.916000	0.36221	0.997000	0.91878	-0.038000	0.12144	-0.392000	0.07751	0.533000	0.62120	AGA		0.453	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		50	269	0	0	0	1	0	50	269				
PTPRM	5797	broad.mit.edu	37	18	8380330	8380330	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8380330C>T	ENST00000332175.8	+	27	4821	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1262	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTCACCCAGCATCCTTTGCC	0.433																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(3784-3786)Cat>Tat		protein tyrosine phosphatase, receptor type, M							99.0	90.0	93.0					18																	8380330		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8380330C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3784C>T	18.37:g.8380330C>T	ENSP00000331418:p.His1262Tyr					PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y	p.H1262Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			27	4821	+		Colorectal(10;0.234)	1262			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3784C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391628	0.83011	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.76002	2.32	0.80722	D	1	B;D;D	0.62365	0.12;0.991;0.969	B;D;D	0.76575	0.291;0.988;0.968	T	0.04708	-1.0932	10	0.42905	T	0.14	.	19.7344	0.96195	0.0:1.0:0.0:0.0	.	1049;1275;1262	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	1262;1276;1200;1049	ENSP00000331418:H1262Y;ENSP00000382933:H1276Y;ENSP00000382927:H1200Y;ENSP00000387608:H1049Y	ENSP00000331418:H1262Y	H	+	1	0	PTPRM	8370330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.591000	0.81541	CAT		0.433	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			52	279	0	0	0	1	0	52	279				
PDE8A	5151	broad.mit.edu	37	15	85610412	85610412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85610412G>A	ENST00000310298.4	+	4	663	c.411G>A	c.(409-411)caG>caA	p.Q137Q	PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Silent_p.Q137Q|PDE8A_ENST00000394553.1_Silent_p.Q137Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	137					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATCCTCGACAGCTGGATGCAG	0.458																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(409-411)caG>caA		phosphodiesterase 8A							109.0	92.0	98.0					15																	85610412		2203	4299	6502	SO:0001819	synonymous_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85610412G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.411G>A	15.37:g.85610412G>A						PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000394553.1_Silent_p.Q137Q|PDE8A_ENST00000339708.5_Silent_p.Q137Q	p.Q137Q			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		4	663	+	Colorectal(223;0.227)		137					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	c.411G>A	CCDS10336.1																																																																																				0.458	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		58	293	0	0	0	1	0	58	293				
HOXC13	3229	broad.mit.edu	37	12	54333171	54333171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54333171C>T	ENST00000243056.3	+	1	637	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	161					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						GGGCGCCCTGCCCGGTGACGA	0.657			T	NUP98	AML																																	ENST00000243056.3				Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)|large_intestine(1)|skin(1)	3						c.(481-483)Ccc>Tcc		homeobox C13							17.0	18.0	18.0					12																	54333171		2200	4293	6493	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54333171C>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.481C>T	12.37:g.54333171C>T	ENSP00000243056:p.Pro161Ser					HOXC-AS5_ENST00000512916.2_RNA	p.P161S	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN			1	637	+			161					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.481C>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524974	0.27299	.	.	ENSG00000123364	ENST00000243056	T	0.35605	1.3	2.69	2.69	0.31865	.	0.068700	0.64402	D	0.000013	T	0.23410	0.0566	N	0.20610	0.595	0.51012	D	0.999909	B	0.17465	0.022	B	0.20184	0.028	T	0.07028	-1.0794	10	0.27785	T	0.31	.	13.2295	0.59933	0.0:1.0:0.0:0.0	.	161	P31276	HXC13_HUMAN	S	161	ENSP00000243056:P161S	ENSP00000243056:P161S	P	+	1	0	HOXC13	52619438	0.979000	0.34478	0.998000	0.56505	0.857000	0.48899	2.205000	0.42770	1.849000	0.53698	0.313000	0.20887	CCC		0.657	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			23	91	0	0	0	1	0	23	91				
ST6GALNAC4	27090	broad.mit.edu	37	9	130674853	130674853	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130674853C>T	ENST00000335791.5	-	4	580	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	102					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGGTTCATGCGGAACACGCA	0.677																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(304-306)cGc>cAc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							44.0	40.0	41.0					9																	130674853		2203	4299	6502	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130674853C>T	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.305G>A	9.37:g.130674853C>T	ENSP00000336733:p.Arg102His					ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H	p.R102H	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			4	580	-			102					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.305G>A	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922318	0.92319	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.68624	-0.34;-0.34;-0.34	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88303	0.2951	10	0.87932	D	0	-5.3386	12.9615	0.58462	0.0:0.9221:0.0:0.0779	.	102	Q9H4F1	SIA7D_HUMAN	H	18;102;18;18	ENSP00000336733:R102H;ENSP00000340382:R18H;ENSP00000355130:R18H	ENSP00000336733:R102H	R	-	2	0	ST6GALNAC4	129714674	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.973000	0.63763	2.632000	0.89209	0.462000	0.41574	CGC		0.677	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		52	223	0	0	0	1	0	52	223				
APOBEC3G	60489	broad.mit.edu	37	22	39482486	39482486	+	Missense_Mutation	SNP	G	G	A	rs542681958		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39482486G>A	ENST00000407997.3	+	6	1295	c.938G>A	c.(937-939)cGc>cAc	p.R313H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	313	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TTCACTGCCCGCATCTATGAT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17744	0.001		0.0	False		,,,				2504	0.0					ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.(937-939)cGc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							114.0	119.0	117.0					22																	39482486		2203	4300	6503	SO:0001583	missense	60489							g.chr22:39482486G>A	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.938G>A	22.37:g.39482486G>A	ENSP00000385057:p.Arg313His					APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	p.R313H	NM_021822.3	NP_068594.1					6	1295	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.938G>A	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.138435	0.37728	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66815	-0.23;-0.23	1.56	1.56	0.23342	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.68577	0.3016	M	0.88906	2.99	0.25718	N	0.985403	B	0.28584	0.216	B	0.25884	0.064	T	0.65685	-0.6108	9	0.72032	D	0.01	.	9.0538	0.36392	0.0:0.0:1.0:0.0	.	313	Q9HC16	ABC3G_HUMAN	H	313	ENSP00000413376:R313H;ENSP00000385057:R313H	ENSP00000385057:R313H	R	+	2	0	APOBEC3G	37812432	1.000000	0.71417	0.743000	0.31040	0.066000	0.16364	5.716000	0.68437	1.168000	0.42723	0.484000	0.47621	CGC		0.512	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		148	738	0	0	0	1	0	148	738				
NRP2	8828	broad.mit.edu	37	2	206592644	206592644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206592644G>A	ENST00000357785.5	+	7	1051	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000360409.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCATGCTCACGGCCATCGCAA	0.502																																						ENST00000360409.3																			1	Substitution - coding silent(1)	p.T340T(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1018-1020)acG>acA		neuropilin 2							95.0	79.0	84.0					2																	206592644		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206592644G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1020G>A	2.37:g.206592644G>A						NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000357785.5_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T	p.T340T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			7	1811	+			340			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.1020G>A	CCDS46496.1																																																																																				0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			36	119	0	0	0	1	0	36	119				
PRRC1	133619	broad.mit.edu	37	5	126883688	126883688	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126883688C>T	ENST00000296666.8	+	8	1316				PRRC1_ENST00000442138.2_Silent_p.F401F|PRRC1_ENST00000512635.2_Intron|PRRC1_ENST00000513427.1_Intron	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1							Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AAAATTTGTTCGGTTTTTTTG	0.299																																						ENST00000442138.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1201-1203)ttC>ttT		proline-rich coiled-coil 1																																				SO:0001627	intron_variant	133619					Golgi apparatus		g.chr5:126883688C>T	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1128+75C>T	5.37:g.126883688C>T						PRRC1_ENST00000296666.8_Intron|PRRC1_ENST00000513427.1_Intron|PRRC1_ENST00000512635.2_Intron	p.F401F			Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	8	1349	+		Prostate(80;0.165)	0					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Silent	SNP	ENST00000296666.8	37	c.1203C>T	CCDS4143.1																																																																																				0.299	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		25	95	0	0	0	1	0	25	95				
SSTR5	6755	broad.mit.edu	37	16	1129709	1129709	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129709G>A	ENST00000293897.4	+	1	929	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	281					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCAGGAGCCCGCCTCCGCCGG	0.627																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(841-843)Gcc>Acc		somatostatin receptor 5	Octreotide(DB00104)						88.0	93.0	91.0					16																	1129709		2194	4297	6491	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129709G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.841G>A	16.37:g.1129709G>A	ENSP00000293897:p.Ala281Thr					SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T|SSTR5_ENST00000562758.1_Intron	p.A281T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	929	+		Hepatocellular(780;0.00369)	281					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.841G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314254	0.05422	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.594342	0.17596	N	0.168594	T	0.47820	0.1466	N	0.16602	0.42	0.18873	N	0.999989	B	0.18166	0.026	B	0.21917	0.037	T	0.24440	-1.0160	10	0.18710	T	0.47	.	5.5565	0.17119	0.1766:0.0:0.6637:0.1597	.	281	P35346	SSR5_HUMAN	T	281	ENSP00000380680:A281T;ENSP00000293897:A281T	ENSP00000293897:A281T	A	+	1	0	SSTR5	1069710	0.248000	0.23930	0.861000	0.33841	0.064000	0.16182	3.106000	0.50322	0.401000	0.25424	-0.314000	0.08810	GCC		0.627	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			85	336	0	0	0	1	0	85	336				
TUBG1	7283	broad.mit.edu	37	17	40766320	40766320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40766320C>T	ENST00000251413.3	+	9	948	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	296					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TGTCATGAGGCGGCTGCTGCA	0.622																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(886-888)Cgg>Tgg		tubulin, gamma 1							66.0	63.0	64.0					17																	40766320		2203	4298	6501	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766320C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.886C>T	17.37:g.40766320C>T	ENSP00000251413:p.Arg296Trp						p.R296W	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	9	948	+		Breast(137;0.00116)	296					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.886C>T	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734503	0.30774	.	.	ENSG00000131462	ENST00000251413	D	0.85339	-1.97	4.38	-0.343	0.12632	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	H	0.97214	3.96	0.58432	D	0.999998	D	0.60575	0.988	P	0.50109	0.631	D	0.94041	0.7309	10	0.87932	D	0	-13.9457	15.5442	0.76081	0.6976:0.3024:0.0:0.0	.	296	P23258	TBG1_HUMAN	W	296	ENSP00000251413:R296W	ENSP00000251413:R296W	R	+	1	2	TUBG1	38019846	1.000000	0.71417	0.966000	0.40874	0.041000	0.13682	1.122000	0.31295	-0.163000	0.10946	0.563000	0.77884	CGG		0.622	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		8	357	0	0	0	1	0	8	357				
PRR27	401137	broad.mit.edu	37	4	71024115	71024115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024115C>A	ENST00000344526.5	+	3	335	c.146C>A	c.(145-147)cCt>cAt	p.P49H	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		49	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTACCACCTCCTCTTTAT	0.438																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(145-147)cCt>cAt		chromosome 4 open reading frame 40							183.0	166.0	171.0					4																	71024115		2203	4300	6503	SO:0001583	missense	401137					extracellular region		g.chr4:71024115C>A																												ENST00000344526.5:c.146C>A	4.37:g.71024115C>A	ENSP00000343172:p.Pro49His					C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H|C4orf40_ENST00000502441.2_Intron	p.P49H	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	335	+			49					A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.146C>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906477	0.33628	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.62639	0.01;0.01	3.24	1.51	0.23008	.	.	.	.	.	T	0.60064	0.2240	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.46652	-0.9176	9	0.37606	T	0.19	-5.0476	5.5143	0.16898	0.0:0.7401:0.0:0.2598	.	49	Q6MZM9	CD040_HUMAN	H	49	ENSP00000426249:P49H;ENSP00000343172:P49H	ENSP00000343172:P49H	P	+	2	0	C4orf40	71058704	0.009000	0.17119	0.001000	0.08648	0.010000	0.07245	1.449000	0.35123	0.397000	0.25310	-0.192000	0.12808	CCT		0.438	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			128	676	1	0	1.87287e-50	1	2.32076e-50	128	676				
COL5A1	1289	broad.mit.edu	37	9	137653790	137653790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653790G>A	ENST00000371817.3	+	19	2369	c.1955G>A	c.(1954-1956)gGc>gAc	p.G652D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	652	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCCTTCCGGCCCACCAGGA	0.577																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1954-1956)gGc>gAc		collagen, type V, alpha 1							111.0	102.0	105.0					9																	137653790		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137653790G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1955G>A	9.37:g.137653790G>A	ENSP00000360882:p.Gly652Asp						p.G652D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	19	2369	+		Myeloproliferative disorder(178;0.0341)	652			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1955G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223112	0.39300	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	4.53	4.53	0.55603	.	0.154112	0.42294	U	0.000725	D	0.99764	0.9904	H	0.98133	4.155	0.51767	D	0.999933	D	0.89917	1.0	D	0.79108	0.992	D	0.97090	0.9790	10	0.87932	D	0	.	12.7642	0.57383	0.0:0.0:1.0:0.0	.	652	P20908	CO5A1_HUMAN	D	652	ENSP00000360882:G652D	ENSP00000360882:G652D	G	+	2	0	COL5A1	136793611	1.000000	0.71417	0.993000	0.49108	0.371000	0.29859	6.552000	0.73914	2.067000	0.61834	0.556000	0.70494	GGC		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		67	319	0	0	0	1	0	67	319				
HEXDC	284004	broad.mit.edu	37	17	80400400	80400400	+	3'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80400400C>T	ENST00000327949.9	+	0	1612				HEXDC_ENST00000577944.1_Silent_p.A536A|HEXDC_ENST00000337014.6_Missense_Mutation_p.P564S			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCTGAGGGCCCTGGGCAGCC	0.597																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1690-1692)Cct>Tct		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							65.0	73.0	71.0					17																	80400400		1936	4141	6077	SO:0001624	3_prime_UTR_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400400C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*140C>T	17.37:g.80400400C>T						HEXDC_ENST00000577944.1_Silent_p.A536A|HEXDC_ENST00000327949.9_3'UTR	p.P564S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	2164	+	Breast(20;0.00106)|all_neural(118;0.0804)		478					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1690C>T		.	.	.	.	.	.	.	.	.	.	C	15.03	2.710804	0.48517	.	.	ENSG00000169660	ENST00000337014	T	0.41400	1.0	3.34	-2.43	0.06522	.	1102.450000	0.00166	N	0.000000	T	0.29524	0.0736	.	.	.	0.09310	N	1	B	0.25169	0.119	B	0.19391	0.025	T	0.23904	-1.0175	9	0.87932	D	0	-0.0924	3.4568	0.07518	0.182:0.3669:0.0:0.4511	.	564	Q8WVB3-2	.	S	564	ENSP00000337854:P564S	ENSP00000337854:P564S	P	+	1	0	HEXDC	77993689	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.041000	0.13927	-0.467000	0.06932	-0.258000	0.10820	CCT		0.597	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		108	606	0	0	0	1	0	108	606				
CCDC6	8030	broad.mit.edu	37	10	61572421	61572421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61572421C>A	ENST00000263102.6	-	5	1050	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	273						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCAGTTGCTTCTTCAGCCGTT	0.418			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(817-819)aaG>aaT		coiled-coil domain containing 6							107.0	108.0	108.0					10																	61572421		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61572421C>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.819G>T	10.37:g.61572421C>A	ENSP00000263102:p.Lys273Asn						p.K273N	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	5	1050	-			273					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.819G>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762443	0.89932	.	.	ENSG00000108091	ENST00000263102	D	0.94758	-3.51	5.73	5.73	0.89815	.	0.084305	0.85682	D	0.000000	D	0.95968	0.8687	L	0.52573	1.65	0.80722	D	1	D	0.56287	0.975	P	0.59761	0.863	D	0.96012	0.9002	10	0.72032	D	0.01	-28.4454	19.8904	0.96928	0.0:1.0:0.0:0.0	.	273	Q16204	CCDC6_HUMAN	N	273	ENSP00000263102:K273N	ENSP00000263102:K273N	K	-	3	2	CCDC6	61242427	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.879000	0.63100	2.697000	0.92050	0.650000	0.86243	AAG		0.418	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		88	310	1	0	1.37074e-43	1	1.67417e-43	88	310				
DPF1	8193	broad.mit.edu	37	19	38706892	38706892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38706892C>A	ENST00000420980.2	-	8	761	c.735G>T	c.(733-735)aaG>aaT	p.K245N	DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000416611.1_Missense_Mutation_p.K263N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000414789.1_Missense_Mutation_p.K207N	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	245					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCGGGCGCCTTCTTGGCTG	0.627																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(787-789)aaG>aaT		D4, zinc and double PHD fingers family 1							57.0	57.0	57.0					19																	38706892		2203	4300	6503	SO:0001583	missense	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38706892C>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.735G>T	19.37:g.38706892C>A	ENSP00000397354:p.Lys245Asn					DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000414789.1_Missense_Mutation_p.K207N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000420980.2_Missense_Mutation_p.K245N	p.K263N			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	912	-	all_cancers(60;1.24e-06)		245					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.789G>T	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.05|19.05	3.752436|3.752436	0.69533|0.69533	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060	.|D;D;D;D;D;T	.|0.91124	.|-2.24;-2.79;-2.29;-2.79;-2.76;2.25	4.39|4.39	3.35|3.35	0.38373|0.38373	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.93374|0.93374	0.7887|0.7887	M|M	0.74467|0.74467	2.265|2.265	0.47245|0.47245	D|D	0.999364|0.999364	.|D;D;D;D;D	.|0.89917	.|0.983;1.0;1.0;1.0;0.968	.|P;D;D;D;P	.|0.97110	.|0.725;0.999;0.996;1.0;0.694	D|D	0.92151|0.92151	0.5728|0.5728	5|10	.|0.66056	.|D	.|0.02	-17.6035|-17.6035	5.7908|5.7908	0.18359|0.18359	0.0:0.6829:0.0:0.3171|0.0:0.6829:0.0:0.3171	.|.	.|263;262;289;289;245	.|E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.|.;.;.;.;DPF1_HUMAN	C|N	282|245;289;207;263;207;263;207	.|ENSP00000397354:K245N;ENSP00000412098:K207N;ENSP00000390223:K263N;ENSP00000391884:K207N;ENSP00000411569:K263N;ENSP00000416347:K207N	.|ENSP00000412098:K207N	G|K	-|-	1|3	0|2	DPF1|DPF1	43398732|43398732	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.917000|0.917000	0.54804|0.54804	2.245000|2.245000	0.43133|0.43133	1.163000|1.163000	0.42636|0.42636	0.561000|0.561000	0.74099|0.74099	GGC|AAG		0.627	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			64	204	1	0	5.73332e-34	1	6.80828e-34	64	204				
SHOC2	8036	broad.mit.edu	37	10	112724738	112724738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112724738G>A	ENST00000369452.4	+	2	967	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	208					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AACTACTGTGGAAAAGGACAT	0.378																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(622-624)Gaa>Aaa		soc-2 suppressor of clear homolog (C. elegans)							74.0	75.0	75.0					10																	112724738		2203	4300	6503	SO:0001583	missense	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724738G>A	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.622G>A	10.37:g.112724738G>A	ENSP00000358464:p.Glu208Lys					SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	p.E208K	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	967	+			208					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.622G>A	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483696	0.63962	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.79653	1.83;1.85;-1.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	N	0.08118	0	0.80722	D	1	D;B	0.56035	0.974;0.016	D;B	0.70487	0.969;0.007	D	0.85741	0.1337	10	0.87932	D	0	.	19.7369	0.96210	0.0:0.0:1.0:0.0	.	208;208	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	K	208;208;44	ENSP00000265277:E208K;ENSP00000358464:E208K;ENSP00000408275:E44K	ENSP00000265277:E208K	E	+	1	0	SHOC2	112714728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.665000	0.90641	0.561000	0.74099	GAA		0.378	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		64	344	0	0	0	1	0	64	344				
CDH11	1009	broad.mit.edu	37	16	65038694	65038694	+	Missense_Mutation	SNP	G	G	A	rs547313548	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65038694G>A	ENST00000268603.4	-	3	694	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000394156.3_Missense_Mutation_p.R27W|CDH11_ENST00000569624.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	27					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCCCCCGCCGCTCTGGGGCA	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G|||	2	0.000399361	0.0	0.0029	5008	,	,		18947	0.0		0.0	False		,,,				2504	0.0					ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(79-81)Cgg>Tgg		cadherin 11, type 2, OB-cadherin (osteoblast)							18.0	21.0	20.0					16																	65038694		2202	4299	6501	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038694G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.79C>T	16.37:g.65038694G>A	ENSP00000268603:p.Arg27Trp	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.R27W|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR	p.R27W			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	532	-		Ovarian(137;0.0973)	27					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.79C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	8.868	0.948665	0.18356	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56776	0.44;0.44	5.74	2.33	0.28932	.	0.534254	0.19811	N	0.105525	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	B;P	0.41450	0.0;0.75	B;B	0.37346	0.0;0.247	T	0.18147	-1.0346	10	0.66056	D	0.02	.	7.7322	0.28793	0.0908:0.0:0.4795:0.4297	.	27;27	P55287-2;P55287	.;CAD11_HUMAN	W	27	ENSP00000268603:R27W;ENSP00000377711:R27W	ENSP00000268603:R27W	R	-	1	2	CDH11	63596195	0.503000	0.26115	0.996000	0.52242	0.546000	0.35178	0.589000	0.23939	0.692000	0.31613	0.591000	0.81541	CGG		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		11	55	0	0	0	1	0	11	55				
PRSS23	11098	broad.mit.edu	37	11	86519669	86519669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519669G>T	ENST00000280258.5	+	2	1409	c.984G>T	c.(982-984)caG>caT	p.Q328H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	328						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAGAGACAGCAGCAGAAGT	0.527																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(982-984)caG>caT		protease, serine, 23							88.0	96.0	93.0					11																	86519669		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519669G>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.984G>T	11.37:g.86519669G>T	ENSP00000280258:p.Gln328His					PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H|PRSS23_ENST00000533902.2_Intron	p.Q328H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1409	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	328					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.984G>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.089988	0.36855	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	.	.	.	5.74	3.82	0.43975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.695759	0.15293	N	0.270060	T	0.33847	0.0877	N	0.08118	0	0.34112	D	0.663066	P;P	0.37612	0.602;0.602	P;B	0.45377	0.478;0.353	T	0.41627	-0.9498	8	.	.	.	-0.5852	10.6054	0.45392	0.0725:0.1339:0.7936:0.0	.	296;328	B4E2J3;O95084	.;PRS23_HUMAN	H	328;296	.	.	Q	+	3	2	PRSS23	86197317	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	2.917000	0.48821	0.727000	0.32360	0.563000	0.77884	CAG		0.527	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		13	405	1	0	5.50884e-06	1	5.65664e-06	13	405				
PKD1L2	114780	broad.mit.edu	37	16	81183400	81183400	+	RNA	SNP	C	C	T	rs372988572	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81183400C>T	ENST00000525539.1	-	0	4647				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)	p.V1550F(1)		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						ACCCTCTGGACGCGGGTGAAG	0.587													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18217	0.0		0.0	False		,,,				2504	0.001					ENST00000525539.1																			1	Substitution - Missense(1)	p.V1550F(1)	kidney(1)	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		C	ILE/VAL	3,3935		0,3,1966	41.0	43.0	42.0		4648	4.4	0.4	16		42	0,8306		0,0,4153	no	missense	PKD1L2	NM_052892.3	29	0,3,6119	TT,TC,CC		0.0,0.0762,0.0245	probably-damaging	1550/2460	81183400	3,12241	1969	4153	6122			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183400C>T	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.81183400C>T						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4647	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			42	143	0	0	0	1	0	42	143				
ZNF831	128611	broad.mit.edu	37	20	57766948	57766948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766948G>T	ENST00000371030.2	+	1	874	c.874G>T	c.(874-876)Gcg>Tcg	p.A292S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	292							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGCTCCCAGCGGCCAGCAC	0.677																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(874-876)Gcg>Tcg		zinc finger protein 831							44.0	50.0	48.0					20																	57766948		2001	4171	6172	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766948G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.874G>T	20.37:g.57766948G>T	ENSP00000360069:p.Ala292Ser						p.A292S	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	874	+	all_lung(29;0.0085)		292					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.874G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694301	0.00731	.	.	ENSG00000124203	ENST00000371030	T	0.04317	3.65	5.04	-0.658	0.11428	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.38672	-0.9650	9	0.08179	T	0.78	.	18.7329	0.91742	0.0:0.3924:0.6076:0.0	.	292	Q5JPB2	ZN831_HUMAN	S	292	ENSP00000360069:A292S	ENSP00000360069:A292S	A	+	1	0	ZNF831	57200343	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.018000	0.12568	-0.352000	0.08237	-0.992000	0.02543	GCG		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		104	474	1	0	2.38877e-60	1	3.0041e-60	104	474				
EPHA6	285220	broad.mit.edu	37	3	96706372	96706372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706372G>T	ENST00000389672.5	+	3	687	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	EPHA6_ENST00000542517.1_Nonsense_Mutation_p.E123*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.E217*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	123						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACTTGCAAAGAAACATTTAA	0.398																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(649-651)Gaa>Taa		EPH receptor A6							110.0	112.0	111.0					3																	96706372		1861	4085	5946	SO:0001587	stop_gained	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706372G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.649G>T	3.37:g.96706372G>T	ENSP00000374323:p.Glu217*					EPHA6_ENST00000542517.1_Nonsense_Mutation_p.E123*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.E217*	p.E217*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			3	687	+			122					D6RAL5	Nonsense_Mutation	SNP	ENST00000389672.5	37	c.649G>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.798593|4.798593	0.90538|0.90538	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	.|T	.|0.76666	.|0.4019	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74435	.|-0.3666	.|4	0.87932|.	D|.	0|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	217;217;123|161	.|.	ENSP00000374323:E217X|.	E|R	+|+	1|2	0|0	EPHA6|EPHA6	98189062|98189062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.398	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		45	561	1	0	2.00842e-17	1	2.21757e-17	45	561				
MMP21	118856	broad.mit.edu	37	10	127461256	127461256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127461256C>T	ENST00000368808.3	-	3	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	254					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GTCACCTAGGCGCCAGGCGTG	0.637																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(760-762)cGc>cAc		matrix metallopeptidase 21							123.0	102.0	109.0					10																	127461256		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127461256C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.761G>A	10.37:g.127461256C>T	ENSP00000357798:p.Arg254His						p.R254H	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			3	760	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	254					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.761G>A	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389139	0.25118	.	.	ENSG00000154485	ENST00000368808	T	0.17854	2.25	4.51	0.116	0.14647	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.522000	0.20933	N	0.083075	T	0.09379	0.0231	L	0.32530	0.975	0.37047	D	0.897399	B	0.15141	0.012	B	0.14023	0.01	T	0.20505	-1.0273	10	0.25106	T	0.35	-19.268	2.7793	0.05356	0.3403:0.3532:0.0:0.3065	.	254	Q8N119	MMP21_HUMAN	H	254	ENSP00000357798:R254H	ENSP00000357798:R254H	R	-	2	0	MMP21	127451246	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.563000	0.23547	0.150000	0.19136	0.561000	0.74099	CGC		0.637	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			70	267	0	0	0	1	0	70	267				
ZNF787	126208	broad.mit.edu	37	19	56614517	56614517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614517C>T	ENST00000270459.3	-	2	188	c.70G>A	c.(70-72)Gag>Aag	p.E24K	Y_RNA_ENST00000411128.1_RNA|ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCTGGGTTCTCGTGACTGGCC	0.642																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(70-72)Gag>Aag		zinc finger protein 787							44.0	53.0	50.0					19																	56614517		1997	4167	6164	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56614517C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.70G>A	19.37:g.56614517C>T	ENSP00000270459:p.Glu24Lys					ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K	p.E24K	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	2	188	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	24					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.70G>A	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853109	0.51270	.	.	ENSG00000142409	ENST00000270459	T	0.06068	3.35	3.15	3.15	0.36227	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.23936	N	0.99642	D	0.56521	0.976	P	0.50825	0.651	T	0.39375	-0.9617	9	0.54805	T	0.06	-32.3686	10.0497	0.42208	0.0:1.0:0.0:0.0	.	24	Q6DD87	ZN787_HUMAN	K	24	ENSP00000270459:E24K	ENSP00000270459:E24K	E	-	1	0	ZNF787	61306329	0.836000	0.29430	0.993000	0.49108	0.339000	0.28857	1.304000	0.33482	2.086000	0.62901	0.462000	0.41574	GAG		0.642	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		46	199	0	0	0	1	0	46	199				
PGLYRP4	57115	broad.mit.edu	37	1	153314114	153314114	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153314114C>A	ENST00000359650.5	-	6	678	c.614G>T	c.(613-615)aGc>aTc	p.S205I	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.S201I	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	205					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTCTTCAGGCTTGTCTTCTG	0.537																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(601-603)aGc>aTc		peptidoglycan recognition protein 4							108.0	102.0	105.0					1																	153314114		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153314114C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.614G>T	1.37:g.153314114C>A	ENSP00000352672:p.Ser205Ile					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S205I	p.S201I			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	960	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		205					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.602G>T	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881545	0.17467	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.23552	1.9;1.9	4.2	-1.28	0.09318	N-acetylmuramoyl-L-alanine amidase domain (4);	0.745300	0.12522	N	0.461528	T	0.04182	0.0116	L	0.31926	0.97	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16722	0.005;0.016	T	0.41052	-0.9530	10	0.21014	T	0.42	-38.0861	0.9165	0.01305	0.4022:0.2713:0.1759:0.1507	.	201;205	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	I	201;205	ENSP00000357728:S201I;ENSP00000352672:S205I	ENSP00000352672:S205I	S	-	2	0	PGLYRP4	151580738	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.601000	0.02081	-0.042000	0.13535	0.591000	0.81541	AGC		0.537	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		95	558	1	0	8.34767e-46	1	1.02437e-45	95	558				
CRB1	23418	broad.mit.edu	37	1	197404736	197404736	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197404736T>G	ENST00000367400.3	+	9	3878	c.3743T>G	c.(3742-3744)tTt>tGt	p.F1248C	CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_Missense_Mutation_p.F629C|CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1248	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGGAAAATTTTGCAGGTGA	0.408																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1885-1887)tTt>tGt		crumbs homolog 1 (Drosophila)							31.0	28.0	29.0					1																	197404736		2200	4294	6494	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404736T>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3743T>G	1.37:g.197404736T>G	ENSP00000356370:p.Phe1248Cys					CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C|CRB1_ENST00000367400.3_Missense_Mutation_p.F1248C	p.F629C			P82279	CRUM1_HUMAN			5	2744	+			1248			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1886T>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212885	0.58452	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.91631	-2.88;-2.1;-2.88;-2.88;-2.88;-2.88	5.19	4.04	0.47022	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94258	0.8156	L	0.56769	1.78	0.33311	D	0.566073	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.998;0.998	P;D;D;D;P	0.85130	0.817;0.961;0.997;0.911;0.872	D	0.94319	0.7552	9	0.39692	T	0.17	.	11.3341	0.49494	0.1362:0.0:0.0:0.8638	.	712;1224;1136;897;1248	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	C	1224;712;1248;1136;729;629;897	ENSP00000438786:F1224C;ENSP00000438091:F712C;ENSP00000356370:F1248C;ENSP00000356369:F1136C;ENSP00000444556:F729C;ENSP00000356367:F629C	ENSP00000356367:F629C	F	+	2	0	CRB1	195671359	0.948000	0.32251	0.967000	0.41034	0.975000	0.68041	4.295000	0.59049	0.787000	0.33731	0.528000	0.53228	TTT		0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		11	80	0	0	0	1	0	11	80				
EPX	8288	broad.mit.edu	37	17	56271324	56271324	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56271324G>A	ENST00000225371.5	+	5	575	c.465G>A	c.(463-465)aaG>aaA	p.K155K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	155					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ATGGCTGCAGGAGGAGACCCT	0.672																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.e5-1		eosinophil peroxidase							32.0	34.0	33.0					17																	56271324		2203	4300	6503	SO:0001630	splice_region_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56271324G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.465-1G>A	17.37:g.56271324G>A							p.K155_splice	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			5	575	+			155					Q4TVP3	Splice_Site	SNP	ENST00000225371.5	37	c.464_splice	CCDS11602.1																																																																																				0.672	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	Silent	51	233	0	0	0	1	0	51	233				
SOGA1	140710	broad.mit.edu	37	20	35433281	35433281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35433281C>T	ENST00000357779.3	-	10	2556	c.2230G>A	c.(2230-2232)Gcc>Acc	p.A744T	SOGA1_ENST00000279034.6_Missense_Mutation_p.A744T|SOGA1_ENST00000456801.2_Missense_Mutation_p.A585T|SOGA1_ENST00000237536.4_Missense_Mutation_p.A982T			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	744					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTCATGTCGGCCAGTGTCTTG	0.577																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2944-2946)Gcc>Acc		suppressor of glucose, autophagy associated 1							78.0	83.0	81.0					20																	35433281		2123	4250	6373	SO:0001583	missense	140710							g.chr20:35433281C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2230G>A	20.37:g.35433281C>T	ENSP00000350424:p.Ala744Thr					SOGA1_ENST00000456801.2_Missense_Mutation_p.A585T|SOGA1_ENST00000357779.3_Missense_Mutation_p.A744T|SOGA1_ENST00000279034.5_Missense_Mutation_p.A744T	p.A982T	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			10	3285	-			744					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2944G>A		.	.	.	.	.	.	.	.	.	.	C	18.27	3.587554	0.66105	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.19394	2.15;2.16;2.17;2.17	4.79	4.79	0.61399	.	0.062096	0.64402	D	0.000005	T	0.17238	0.0414	L	0.34521	1.04	0.35213	D	0.775365	P	0.48089	0.905	P	0.45276	0.475	T	0.10567	-1.0624	10	0.17832	T	0.49	-16.1719	10.4312	0.44409	0.3055:0.6945:0.0:0.0	.	744	O94964-4	.	T	982;744;585;744	ENSP00000237536:A982T;ENSP00000279034:A744T;ENSP00000413886:A585T;ENSP00000350424:A744T	ENSP00000237536:A982T	A	-	1	0	KIAA0889	34866695	1.000000	0.71417	0.995000	0.50966	0.805000	0.45488	1.968000	0.40500	2.478000	0.83669	0.557000	0.71058	GCC		0.577	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		20	222	0	0	0	1	0	20	222				
GSDMB	55876	broad.mit.edu	37	17	38065249	38065249	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38065249C>T	ENST00000394179.1	-	5	753	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GSDMB_ENST00000394175.2_Missense_Mutation_p.R208Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q			Q8TAX9	GSDMB_HUMAN	gasdermin B	208						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTGCTTTACTCGATAGCTCAG	0.522																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(622-624)cGa>cAa		gasdermin B							181.0	170.0	174.0					17																	38065249		2203	4300	6503	SO:0001583	missense	55876					cytoplasm		g.chr17:38065249C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.623G>A	17.37:g.38065249C>T	ENSP00000377733:p.Arg208Gln					GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000394179.1_Missense_Mutation_p.R208Q	p.R208Q	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			4	846	-			208					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37	c.623G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.046504|3.046504	0.55110|0.55110	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000420491|ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.|T;T;T;T;T;T	.|0.26518	.|1.73;1.73;1.73;1.73;1.73;1.73	3.13|3.13	1.11|1.11	0.20524|0.20524	.|.	.|0.184561	.|0.25045	.|N	.|0.033565	T|T	0.39784|0.39784	0.1091|0.1091	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|D;D;P;P	.|0.89917	.|1.0;1.0;0.772;0.772	.|D;D;B;B	.|0.91635	.|0.999;0.992;0.121;0.121	T|T	0.08638|0.08638	-1.0712|-1.0712	5|10	.|0.46703	.|T	.|0.11	.|.	5.3822|5.3822	0.16197|0.16197	0.0:0.7316:0.0:0.2684|0.0:0.7316:0.0:0.2684	.|.	.|208;208;208;208	.|B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2	.|.;.;.;.	K|Q	140|208	.|ENSP00000353465:R208Q;ENSP00000377729:R208Q;ENSP00000312584:R208Q;ENSP00000430157:R208Q;ENSP00000415049:R208Q;ENSP00000377733:R208Q	.|ENSP00000312584:R208Q	E|R	-|-	1|2	0|0	GSDMB|GSDMB	35318775|35318775	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.042000|0.042000	0.13812|0.13812	-0.139000|-0.139000	0.10358|0.10358	0.347000|0.347000	0.23924|0.23924	0.609000|0.609000	0.83330|0.83330	GAG|CGA		0.522	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		180	771	0	0	0	1	0	180	771				
THBS4	7060	broad.mit.edu	37	5	79373958	79373958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79373958G>A	ENST00000350881.2	+	17	2363	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.V634I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	725					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAACGCAGAGGTCACCCTGAC	0.592																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2173-2175)Gtc>Atc		thrombospondin 4							100.0	79.0	86.0					5																	79373958		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79373958G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2173G>A	5.37:g.79373958G>A	ENSP00000339730:p.Val725Ile					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.V634I	p.V725I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	17	2363	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	725					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2173G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	5.167	0.216344	0.09810	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98234	-4.81;-4.81	5.23	3.34	0.38264	.	0.181790	0.49305	N	0.000147	D	0.91680	0.7370	N	0.11756	0.17	0.31040	N	0.716376	B	0.02656	0.0	B	0.04013	0.001	D	0.83962	0.0322	10	0.02654	T	1	-21.7943	5.9809	0.19407	0.5442:0.0:0.4558:0.0	.	725	P35443	TSP4_HUMAN	I	725;634	ENSP00000339730:V725I;ENSP00000422298:V634I	ENSP00000339730:V725I	V	+	1	0	THBS4	79409714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.753000	0.38359	0.780000	0.33566	0.655000	0.94253	GTC		0.592	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			18	100	0	0	0	1	0	18	100				
CTNNB1	1499	broad.mit.edu	37	3	41275022	41275022	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275022A>C	ENST00000349496.5	+	9	1468	c.1188A>C	c.(1186-1188)gaA>gaC	p.E396D	CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	396					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTCCATAGGAAGGGATGGAAG	0.433		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1186-1188)gaA>gaC		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						133.0	126.0	128.0					3																	41275022		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275022A>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1188A>C	3.37:g.41275022A>C	ENSP00000344456:p.Glu396Asp					CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D	p.E396D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1468	+			396					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1188A>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	7.751	0.703292	0.15172	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.86	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.02181	-0.65	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07539	-1.0767	10	0.08179	T	0.78	-10.668	8.4911	0.33100	0.6984:0.0:0.3016:0.0	.	324;396	B4DSW9;P35222	.;CTNB1_HUMAN	D	396;396;396;389;396	ENSP00000385604:E396D;ENSP00000379486:E396D;ENSP00000344456:E396D;ENSP00000411226:E389D;ENSP00000379488:E396D	ENSP00000344456:E396D	E	+	3	2	CTNNB1	41250026	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.379000	0.44318	0.452000	0.26830	0.533000	0.62120	GAA		0.433	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		166	631	0	0	0	1	0	166	631				
MSLNL	401827	broad.mit.edu	37	16	820164	820164	+	Missense_Mutation	SNP	C	C	T	rs370742535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:820164C>T	ENST00000442466.1	-	14	1767	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S	MSLNL_ENST00000293892.3_Missense_Mutation_p.G941S|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	590					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCGTCCAGGCCGAGCTGGCCC	0.721																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2821-2823)Ggc>Agc		mesothelin-like			SER/GLY	0,4314		0,0,2157	11.0	13.0	13.0		2821	3.5	0.9	16		13	1,8523		0,1,4261	no	missense	MSLNL	NM_001025190.1	56	0,1,6418	TT,TC,CC		0.0117,0.0,0.0078	possibly-damaging	941/1054	820164	1,12837	2157	4262	6419	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:820164C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1768G>A	16.37:g.820164C>T	ENSP00000415767:p.Gly590Ser					MSLNL_ENST00000442466.1_Missense_Mutation_p.G590S	p.G941S			Q96KJ4	MSLNL_HUMAN			15	2820	-			590						Missense_Mutation	SNP	ENST00000442466.1	37	c.2821G>A		.	.	.	.	.	.	.	.	.	.	c	15.92	2.974818	0.53720	0.0	1.17E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.22336	1.96;1.96;1.96	4.44	3.48	0.39840	.	0.147080	0.45126	D	0.000392	T	0.16514	0.0397	.	.	.	0.31954	N	0.609335	P	0.40050	0.7	B	0.36378	0.223	T	0.15694	-1.0428	9	0.54805	T	0.06	-41.6552	10.5908	0.45308	0.0:0.8045:0.1955:0.0	.	590	Q96KJ4	MSLNL_HUMAN	S	640;590;941	ENSP00000441381:G640S;ENSP00000415767:G590S;ENSP00000293892:G941S	ENSP00000293892:G941S	G	-	1	0	MSLNL	760165	0.988000	0.35896	0.930000	0.37139	0.005000	0.04900	0.643000	0.24750	1.215000	0.43411	0.537000	0.68136	GGC		0.721	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		7	84	0	0	0	1	0	7	84				
GRAMD1C	54762	broad.mit.edu	37	3	113623099	113623099	+	Missense_Mutation	SNP	G	G	A	rs371194067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113623099G>A	ENST00000358160.4	+	8	1261	c.769G>A	c.(769-771)Gat>Aat	p.D257N	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	257						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGAGTCATTCGATGGAAATTC	0.348																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(769-771)Gat>Aat		GRAM domain containing 1C		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	70.0	76.0	74.0		769,154	3.7	0.0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRAMD1C	NM_017577.4,NM_001172105.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	257/663,52/458	113623099	1,13005	2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113623099G>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.769G>A	3.37:g.113623099G>A	ENSP00000350881:p.Asp257Asn					GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame	p.D257N	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			8	1261	+			257					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.769G>A	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362379	0.24684	0.0	1.16E-4	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.45668	1.47;0.89;0.94	5.72	3.74	0.42951	.	1.651810	0.04538	N	0.387595	T	0.30386	0.0763	N	0.20807	0.61	0.20074	N	0.999931	B;B	0.16396	0.017;0.006	B;B	0.11329	0.006;0.001	T	0.21724	-1.0237	10	0.35671	T	0.21	.	6.3123	0.21171	0.24:0.0:0.76:0.0	.	90;257	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	N	257;90;52;52	ENSP00000350881:D257N;ENSP00000419132:D90N;ENSP00000408135:D52N	ENSP00000350881:D257N	D	+	1	0	GRAMD1C	115105789	0.935000	0.31712	0.013000	0.15412	0.698000	0.40448	1.780000	0.38634	0.693000	0.31634	0.563000	0.77884	GAT		0.348	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		54	284	0	0	0	1	0	54	284				
PRSS23	11098	broad.mit.edu	37	11	86518792	86518792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86518792G>A	ENST00000280258.5	+	2	532	c.107G>A	c.(106-108)cGc>cAc	p.R36H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	36						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTGCATACCGCCTCCCTGTC	0.542																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(106-108)cGc>cAc		protease, serine, 23							113.0	110.0	111.0					11																	86518792		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86518792G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.107G>A	11.37:g.86518792G>A	ENSP00000280258:p.Arg36His					PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H|PRSS23_ENST00000533902.2_Intron	p.R36H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	532	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	36					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.107G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420746	0.62622	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.95	0.45737	.	0.057555	0.64402	D	0.000002	T	0.45617	0.1351	L	0.44542	1.39	0.42263	D	0.992025	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.29336	-1.0015	8	.	.	.	-11.6981	9.5078	0.39058	0.2122:0.0:0.7878:0.0	.	36;36	B4E2J3;O95084	.;PRS23_HUMAN	H	36	.	.	R	+	2	0	PRSS23	86196440	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.761000	0.47589	0.817000	0.34445	-0.136000	0.14681	CGC		0.542	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		64	459	0	0	0	1	0	64	459				
AGAP11	119385	broad.mit.edu	37	10	88768262	88768262	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88768262C>T	ENST00000444431.1	+	0	2862				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CATTTGCAAGCAGTCCATGGG	0.547																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							145.0	157.0	153.0					10																	88768262		2181	4295	6476			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768262C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768262C>T						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2862	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.547	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		101	953	0	0	0	1	0	101	953				
CKMT1A	548596	broad.mit.edu	37	15	43990318	43990318	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43990318T>C	ENST00000413453.2	+	7	1507	c.983T>C	c.(982-984)gTg>gCg	p.V328A	CKMT1A_ENST00000434505.1_Missense_Mutation_p.V328A|STRC_ENST00000541030.1_Intron			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	328	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CGGGCAGGAGTGCACATCAAA	0.532																																						ENST00000413453.2																			0				lung(4)	4						c.(982-984)gTg>gCg		creatine kinase, mitochondrial 1A	Creatine(DB00148)						82.0	69.0	73.0					15																	43990318		2198	4278	6476	SO:0001583	missense	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43990318T>C	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.983T>C	15.37:g.43990318T>C	ENSP00000406577:p.Val328Ala					STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.V328A	p.V328A			P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	7	1507	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	328			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000413453.2	37	c.983T>C	CCDS32217.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943072	0.73672	.	.	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.37058	1.22;1.22	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54275	-0.8318	7	0.66056	D	0.02	-3.3673	12.4039	0.55428	0.0:0.0:0.0:1.0	.	.	.	.	A	359;328;328	ENSP00000413165:V328A;ENSP00000406577:V328A	ENSP00000406577:V328A	V	+	2	0	CKMT1A	41777610	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.615000	0.83006	1.312000	0.45043	0.327000	0.21459	GTG		0.532	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1			100	454	0	0	0	1	0	100	454				
ZNF28	7576	broad.mit.edu	37	19	53304225	53304225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304225C>T	ENST00000457749.2	-	4	992	c.873G>A	c.(871-873)gcG>gcA	p.A291A	ZNF28_ENST00000360272.4_Silent_p.A238A|ZNF28_ENST00000438150.2_Silent_p.A238A|ZNF28_ENST00000414252.2_Silent_p.A238A	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGTATGAAGCGCCTTGTGAA	0.398																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(712-714)gcG>gcA		zinc finger protein 28							151.0	142.0	145.0					19																	53304225		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304225C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.873G>A	19.37:g.53304225C>T						ZNF28_ENST00000360272.4_Silent_p.A238A|ZNF28_ENST00000457749.2_Silent_p.A291A|ZNF28_ENST00000414252.2_Silent_p.A238A	p.A238A			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1607	-			291					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.714G>A	CCDS33093.2																																																																																				0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		117	505	0	0	0	1	0	117	505				
ZNF516	9658	broad.mit.edu	37	18	74154528	74154528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154528C>T	ENST00000443185.2	-	3	800	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGCGGACCCCTCTGCCCCCT	0.697																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(481-483)gaG>gaA		zinc finger protein 516							10.0	13.0	12.0					18																	74154528		1928	4066	5994	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154528C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.483G>A	18.37:g.74154528C>T						ZNF516_ENST00000524431.2_5'UTR	p.E161E	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	800	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	161						Silent	SNP	ENST00000443185.2	37	c.483G>A																																																																																					0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		34	113	0	0	0	1	0	34	113				
FOXN4	121643	broad.mit.edu	37	12	109719515	109719515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109719515C>T	ENST00000299162.5	-	9	1095	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	331					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						ACTGTGGTGGCGTGAGTCAGC	0.677																																						ENST00000299162.5																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(991-993)Gcc>Acc		forkhead box N4							19.0	15.0	16.0					12																	109719515		2182	4275	6457	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719515C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.991G>A	12.37:g.109719515C>T	ENSP00000299162:p.Ala331Thr					FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	p.A331T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			9	1095	-			331					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.991G>A	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832846	0.16820	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95272	-3.66;-3.24	5.29	1.2	0.21068	.	1.572910	0.03385	N	0.200953	D	0.89812	0.6823	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.019;0.012	B;B	0.10450	0.005;0.005	T	0.73427	-0.3986	10	0.15066	T	0.55	-15.7102	2.2101	0.03945	0.1578:0.5154:0.1543:0.1725	.	331;331	A6H901;Q96NZ1	.;FOXN4_HUMAN	T	151;331	ENSP00000347354:A151T;ENSP00000299162:A331T	ENSP00000299162:A331T	A	-	1	0	FOXN4	108203898	0.011000	0.17503	0.022000	0.16811	0.301000	0.27625	0.172000	0.16704	0.009000	0.14813	-0.234000	0.12200	GCC		0.677	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		17	114	0	0	0	1	0	17	114				
HERC1	8925	broad.mit.edu	37	15	64017505	64017505	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64017505T>G	ENST00000443617.2	-	18	3641	c.3554A>C	c.(3553-3555)gAc>gCc	p.D1185A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1185					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGAGGAGTGTCCATTTCTAC	0.448																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(3553-3555)gAc>gCc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							68.0	66.0	66.0					15																	64017505		1998	4176	6174	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64017505T>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3554A>C	15.37:g.64017505T>G	ENSP00000390158:p.Asp1185Ala						p.D1185A	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			18	3641	-			1185					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.3554A>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564733	0.65651	.	.	ENSG00000103657	ENST00000443617	T	0.24350	1.86	5.44	5.44	0.79542	.	0.287715	0.31450	N	0.007624	T	0.19886	0.0478	N	0.19112	0.55	0.54753	D	0.999989	B	0.24186	0.099	B	0.22601	0.04	T	0.03673	-1.1014	10	0.66056	D	0.02	.	15.8085	0.78534	0.0:0.0:0.0:1.0	.	1185	Q15751	HERC1_HUMAN	A	1185	ENSP00000390158:D1185A	ENSP00000390158:D1185A	D	-	2	0	HERC1	61804558	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.187000	0.72039	2.199000	0.70637	0.528000	0.53228	GAC		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		27	144	0	0	0	1	0	27	144				
SYNE2	23224	broad.mit.edu	37	14	64604534	64604534	+	Silent	SNP	C	C	T	rs375987275		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64604534C>T	ENST00000344113.4	+	79	14888	c.14676C>T	c.(14674-14676)caC>caT	p.H4892H	SYNE2_ENST00000554584.1_Silent_p.H4809H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.H1526H|SYNE2_ENST00000357395.3_Silent_p.H1277H|SYNE2_ENST00000394768.2_Silent_p.H1277H|SYNE2_ENST00000358025.3_Silent_p.H4892H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4892					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.H4892H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGGAAAACACGCCCGGCTTT	0.403																																						ENST00000357395.3																			1	Substitution - coding silent(1)	p.H4892H(1)	large_intestine(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3829-3831)caC>caT		spectrin repeat containing, nuclear envelope 2							75.0	73.0	73.0					14																	64604534		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64604534C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14676C>T	14.37:g.64604534C>T						SYNE2_ENST00000394768.2_Silent_p.H1277H|SYNE2_ENST00000358025.3_Silent_p.H4892H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.H4892H|SYNE2_ENST00000555002.1_Silent_p.H1526H|SYNE2_ENST00000554584.1_Silent_p.H4809H	p.H1277H			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	80	14975	+			4892					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3831C>T	CCDS41963.1																																																																																				0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		78	311	0	0	0	1	0	78	311				
RBBP6	5930	broad.mit.edu	37	16	24574565	24574565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24574565G>T	ENST00000319715.4	+	11	1767	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	445					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTGCATCAGAGCACTCAAAGG	0.328																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(1333-1335)gaG>gaT		retinoblastoma binding protein 6							78.0	87.0	84.0					16																	24574565		2184	4290	6474	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24574565G>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1335G>T	16.37:g.24574565G>T	ENSP00000317872:p.Glu445Asp					RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D|RBBP6_ENST00000381039.3_Intron	p.E445D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	11	1767	+			445					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.1335G>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357741	0.41801	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14391	2.51;2.52	5.75	-1.1	0.09872	.	0.219325	0.31113	N	0.008225	T	0.05777	0.0151	N	0.14661	0.345	0.31755	N	0.634154	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.32851	-0.9891	10	0.19147	T	0.46	-26.9606	6.0765	0.19919	0.3838:0.0:0.4308:0.1854	.	445;445	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	D	445	ENSP00000317872:E445D;ENSP00000316291:E445D	ENSP00000317872:E445D	E	+	3	2	RBBP6	24482066	0.003000	0.15002	0.996000	0.52242	0.971000	0.66376	-1.903000	0.01594	-0.076000	0.12775	-0.471000	0.05019	GAG		0.328	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		28	822	1	0	2.41591e-17	1	2.66597e-17	28	822				
UBA7	7318	broad.mit.edu	37	3	49847305	49847305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847305C>T	ENST00000333486.3	-	15	2005	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	616					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAACTCATGCCGGGCCCACTG	0.582																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1846-1848)cGg>cAg		ubiquitin-like modifier activating enzyme 7							91.0	97.0	95.0					3																	49847305		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847305C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1847G>A	3.37:g.49847305C>T	ENSP00000333266:p.Arg616Gln						p.R616Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	15	2005	-			616					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1847G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510430	0.85389	.	.	ENSG00000182179	ENST00000333486	T	0.48522	0.81	6.07	-0.683	0.11335	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.301816	0.35525	N	0.003148	T	0.46054	0.1373	L	0.60012	1.86	0.48288	D	0.999623	D	0.59357	0.985	P	0.54499	0.754	T	0.44982	-0.9292	10	0.62326	D	0.03	-12.0257	1.5695	0.02612	0.2615:0.432:0.1277:0.1789	.	616	P41226	UBA7_HUMAN	Q	616	ENSP00000333266:R616Q	ENSP00000333266:R616Q	R	-	2	0	UBA7	49822309	0.565000	0.26610	0.100000	0.21137	0.938000	0.57974	1.465000	0.35299	0.201000	0.20466	0.655000	0.94253	CGG		0.582	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		68	524	0	0	0	1	0	68	524				
MAGEA11	4110	broad.mit.edu	37	X	148797776	148797776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797776C>T	ENST00000355220.5	+	5	732	c.630C>T	c.(628-630)gaC>gaT	p.D210D	MAGEA11_ENST00000333104.4_Silent_p.D181D	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	210						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCGCCTGACCTGATAGACC	0.488																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(628-630)gaC>gaT		melanoma antigen family A, 11							107.0	102.0	104.0					X																	148797776		2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148797776C>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.630C>T	X.37:g.148797776C>T						MAGEA11_ENST00000333104.4_Silent_p.D181D	p.D210D	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	732	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		210					Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.630C>T	CCDS48180.1																																																																																				0.488	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		13	610	0	0	0	1	0	13	610				
TEAD4	7004	broad.mit.edu	37	12	3121335	3121335	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3121335G>T	ENST00000397122.2	+	3	189		c.e3-1		TEAD4_ENST00000359864.2_Splice_Site|TEAD4_ENST00000358409.2_Splice_Site	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4						gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCCTGCCACAGGTCTCCAGCC	0.607																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.e5-1		TEA domain family member 4							63.0	55.0	57.0					12																	3121335		2203	4300	6503	SO:0001630	splice_region_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3121335G>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.-96-1G>T	12.37:g.3121335G>T						TEAD4_ENST00000397122.2_Splice_Site|TEAD4_ENST00000358409.2_Splice_Site		NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		5	481	+	Ovarian(42;0.211)							H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Splice_Site	SNP	ENST00000397122.2	37		CCDS41737.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655937	0.47467	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035;ENST00000544666	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEAD4	2991596	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.012000	0.93624	2.468000	0.83385	0.655000	0.94253	.		0.607	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213	Intron	24	132	1	0	3.65163e-15	1	3.98403e-15	24	132				
ALPP	250	broad.mit.edu	37	2	233244614	233244614	+	Missense_Mutation	SNP	G	G	A	rs138033708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244614G>A	ENST00000392027.2	+	5	894	c.625G>A	c.(625-627)Gct>Act	p.A209T	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	209					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCAGGACATCGCTACGCAGCT	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		18710	0.0		0.0	False		,,,				2504	0.001					ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(625-627)Gct>Act		alkaline phosphatase, placental							69.0	70.0	70.0					2																	233244614		2203	4299	6502	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244614G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.625G>A	2.37:g.233244614G>A	ENSP00000375881:p.Ala209Thr					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.A209T	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	894	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	209					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.625G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449547	0.43531	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.31	1.36	0.22044	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.88842	2.985	0.53005	D	0.999963	D	0.89917	1.0	D	0.70016	0.967	D	0.96819	0.9602	10	0.66056	D	0.02	.	9.4929	0.38971	0.0:0.0:0.6243:0.3757	.	209	P05187	PPB1_HUMAN	T	209	ENSP00000375881:A209T	ENSP00000375881:A209T	A	+	1	0	ALPP	232952858	0.743000	0.28239	0.326000	0.25389	0.024000	0.10985	0.952000	0.29149	0.266000	0.21894	0.298000	0.19748	GCT		0.682	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		23	483	0	0	0	1	0	23	483				
NFE2L1	4779	broad.mit.edu	37	17	46133807	46133807	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46133807G>T	ENST00000362042.3	+	3	1186	c.570G>T	c.(568-570)gaG>gaT	p.E190D	NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D|NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.E190D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	190	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGCGTGAGGTTTTTGACT	0.542																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(568-570)gaG>gaT		nuclear factor, erythroid 2-like 1							278.0	280.0	279.0					17																	46133807		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46133807G>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.570G>T	17.37:g.46133807G>T	ENSP00000354855:p.Glu190Asp					NFE2L1_ENST00000585291.1_Missense_Mutation_p.E190D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D	p.E190D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			3	1186	+			190			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.570G>T	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409615	0.83340	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.46063	0.88;1.01	5.48	3.48	0.39840	.	0.098545	0.64402	D	0.000002	T	0.45637	0.1352	L	0.55103	1.725	0.49687	D	0.999813	D;P;P;P;B	0.59767	0.986;0.877;0.787;0.787;0.058	P;B;B;B;B	0.52267	0.694;0.315;0.295;0.197;0.031	T	0.41840	-0.9486	10	0.51188	T	0.08	-28.7338	8.7869	0.34825	0.2391:0.0:0.7609:0.0	.	64;32;190;190;190	F5H1B7;B4DYE1;A3KMG6;Q14494-2;Q14494	.;.;.;.;NF2L1_HUMAN	D	209;190;190;64	ENSP00000350072:E190D;ENSP00000445811:E64D	ENSP00000350072:E190D	E	+	3	2	NFE2L1	43488806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.827000	0.39102	1.330000	0.45394	0.491000	0.48974	GAG		0.542	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		32	1930	1	0	2.27111e-07	1	2.35674e-07	32	1930				
RC3H1	149041	broad.mit.edu	37	1	173931058	173931058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173931058G>A	ENST00000367696.2	-	12	2358	c.2007C>T	c.(2005-2007)caC>caT	p.H669H	RC3H1_ENST00000367694.2_Silent_p.H669H|RC3H1_ENST00000258349.4_Silent_p.H669H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	669	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGCCATCATAGTGAGATGGGT	0.488																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(2005-2007)caC>caT		ring finger and CCCH-type domains 1							249.0	240.0	243.0					1																	173931058		2203	4300	6503	SO:0001819	synonymous_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173931058G>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2007C>T	1.37:g.173931058G>A						RC3H1_ENST00000367694.2_Silent_p.H669H|RC3H1_ENST00000258349.4_Silent_p.H669H	p.H669H			Q5TC82	RC3H1_HUMAN			12	2358	-			669			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	c.2007C>T	CCDS30940.1																																																																																				0.488	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		221	569	0	0	0	1	0	221	569				
SLC9B2	133308	broad.mit.edu	37	4	103971468	103971468	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103971468A>G	ENST00000394785.3	-	5	1145	c.514T>C	c.(514-516)Tgg>Cgg	p.W172R	SLC9B2_ENST00000339611.4_Missense_Mutation_p.W172R|SLC9B2_ENST00000503103.1_Missense_Mutation_p.W115R|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W172R|SLC9B2_ENST00000503230.1_Missense_Mutation_p.W115R	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	172					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										GAGGAAGACCACTTGTGCTTG	0.403																																						ENST00000394785.3																			0											c.(514-516)Tgg>Cgg		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							115.0	91.0	99.0					4																	103971468		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103971468A>G	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.514T>C	4.37:g.103971468A>G	ENSP00000378265:p.Trp172Arg					SLC9B2_ENST00000339611.4_Missense_Mutation_p.W172R|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W172R|SLC9B2_ENST00000503230.1_Missense_Mutation_p.W115R|SLC9B2_ENST00000503103.1_Missense_Mutation_p.W115R	p.W172R	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			5	1145	-			172					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.514T>C	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104743	0.77096	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.82517	2.595	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.993;0.994;0.996;0.992	T	0.40270	-0.9572	10	0.30078	T	0.28	-6.523	15.0604	0.71947	1.0:0.0:0.0:0.0	.	115;115;172;172	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	R	172;72;172;172;115;115	ENSP00000354574:W172R;ENSP00000421943:W72R;ENSP00000345241:W172R;ENSP00000378265:W172R;ENSP00000425385:W115R;ENSP00000422477:W115R	ENSP00000345241:W172R	W	-	1	0	SLC9B2	104190917	1.000000	0.71417	0.923000	0.36655	0.806000	0.45545	8.156000	0.89645	2.008000	0.58898	0.482000	0.46254	TGG		0.403	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		58	272	0	0	0	1	0	58	272				
SNHG14	104472715	broad.mit.edu	37	15	25486732	25486732	+	RNA	SNP	T	T	C	rs557224725	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25486732T>C	ENST00000453082.2	+	0	2051				SNORD115-38_ENST00000365037.1_RNA|SNORD115-39_ENST00000363694.1_RNA|SNORD115-40_ENST00000606510.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAGACTTCCATTGGGCCCACT	0.602																																						ENST00000453082.2																			0																																																			0							g.chr15:25486732T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25486732T>C								NR_003343.1						0	2051	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.602	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			18	99	0	0	0	1	0	18	99				
MRPL54	116541	broad.mit.edu	37	19	3762792	3762792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3762792G>A	ENST00000330133.4	+	1	131	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	32						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACTCCTGGCCCGGGATTA	0.622																																						ENST00000330133.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(94-96)Gcc>Acc		mitochondrial ribosomal protein L54							31.0	36.0	34.0					19																	3762792		2203	4299	6502	SO:0001583	missense	116541					mitochondrion|ribosome		g.chr19:3762792G>A		CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"""Mitochondrial ribosomal proteins / large subunits"""	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.94G>A	19.37:g.3762792G>A	ENSP00000331849:p.Ala32Thr						p.A32T	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	1	131	+		Hepatocellular(1079;0.137)	32						Missense_Mutation	SNP	ENST00000330133.4	37	c.94G>A	CCDS12111.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949224	0.34377	.	.	ENSG00000183617	ENST00000330133	.	.	.	5.57	0.971	0.19698	.	0.742997	0.12541	N	0.459920	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.25152	-1.0140	9	0.21014	T	0.42	-5.2624	4.7361	0.12988	0.2703:0.0:0.5624:0.1673	.	32	Q6P161	RM54_HUMAN	T	32	.	ENSP00000331849:A32T	A	+	1	0	MRPL54	3713792	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	0.741000	0.26202	0.393000	0.25203	-0.367000	0.07326	GCC		0.622	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	NM_172251		46	371	0	0	0	1	0	46	371				
WSB2	55884	broad.mit.edu	37	12	118480730	118480730	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118480730G>T	ENST00000315436.3	-	4	616	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	WSB2_ENST00000535496.1_Missense_Mutation_p.L161M|WSB2_ENST00000542304.1_De_novo_Start_OutOfFrame|WSB2_ENST00000441406.2_Missense_Mutation_p.L176M|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	159					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGAAGCTCAGATCTCTCACG	0.557																																						ENST00000542304.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17								WD repeat and SOCS box containing 2							112.0	110.0	110.0					12																	118480730		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118480730G>T	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.475C>A	12.37:g.118480730G>T	ENSP00000319474:p.Leu159Met					WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000315436.3_Missense_Mutation_p.L159M|WSB2_ENST00000441406.2_Missense_Mutation_p.L176M|WSB2_ENST00000535496.1_Missense_Mutation_p.L161M				Q9NYS7	WSB2_HUMAN			0	395	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							B4DIE6|B4DPV6|Q9NRX9	Translation_Start_Site	SNP	ENST00000315436.3	37		CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190714	0.78789	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.75	2.72	0.32119	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144057	0.48286	D	0.000191	T	0.62841	0.2461	L	0.38838	1.175	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.59289	-0.7482	10	0.49607	T	0.09	-8.686	5.8458	0.18665	0.2445:0.137:0.6186:0.0	.	159	Q9NYS7	WSB2_HUMAN	M	159;176;161;161	ENSP00000319474:L159M;ENSP00000409131:L176M;ENSP00000439450:L161M;ENSP00000440386:L161M	ENSP00000319474:L159M	L	-	1	2	WSB2	116965113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.339000	0.43965	0.283000	0.22279	0.644000	0.83932	CTG		0.557	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		98	442	1	0	3.61922e-38	1	4.35844e-38	98	442				
CBFA2T3	863	broad.mit.edu	37	16	88945800	88945800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88945800G>A	ENST00000268679.4	-	11	1936	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R428C|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R428C|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	514					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCGCTTTGCGCTCCGCGTCC	0.662			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1540-1542)Cgc>Tgc		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							82.0	69.0	73.0					16																	88945800		2198	4299	6497	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945800G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1540C>T	16.37:g.88945800G>A	ENSP00000268679:p.Arg514Cys					CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R428C|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R428C	p.R514C	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	11	1936	-			514					D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1540C>T	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469413	0.63625	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.954	T	0.70920	-0.4741	10	0.87932	D	0	-21.2643	17.6401	0.88133	0.0:0.0:1.0:0.0	.	514;428	O75081;O75081-2	MTG16_HUMAN;.	C	428;514;476;438;428	ENSP00000332122:R428C;ENSP00000268679:R514C;ENSP00000395739:R476C;ENSP00000401254:R438C;ENSP00000353449:R428C	ENSP00000268679:R514C	R	-	1	0	CBFA2T3	87473301	1.000000	0.71417	0.743000	0.31040	0.208000	0.24298	5.889000	0.69766	2.145000	0.66743	0.462000	0.41574	CGC		0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		8	369	0	0	0	1	0	8	369				
AOC2	314	broad.mit.edu	37	17	40997013	40997013	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40997013G>A	ENST00000253799.3	+	1	397	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	124					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTGGCCATCGTCCTCTTTGG	0.667																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(370-372)Gtc>Atc		amine oxidase, copper containing 2 (retina-specific)							33.0	32.0	32.0					17																	40997013		2203	4299	6502	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997013G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.370G>A	17.37:g.40997013G>A	ENSP00000253799:p.Val124Ile					AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	p.V124I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	397	+		Breast(137;0.000143)	124					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.370G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.090357	0.01873	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.35789	1.29;1.29	5.01	2.57	0.30868	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.221172	0.37136	N	0.002238	T	0.14184	0.0343	N	0.05510	-0.035	0.40249	D	0.978047	B;B	0.28820	0.076;0.224	B;B	0.23574	0.03;0.047	T	0.09907	-1.0653	10	0.10902	T	0.67	-53.025	6.7767	0.23624	0.2025:0.1471:0.6504:0.0	.	124;124	O75106;O75106-2	AOC2_HUMAN;.	I	124	ENSP00000253799:V124I;ENSP00000406134:V124I	ENSP00000253799:V124I	V	+	1	0	AOC2	38250539	1.000000	0.71417	0.996000	0.52242	0.041000	0.13682	1.953000	0.40352	0.448000	0.26722	-0.253000	0.11424	GTC		0.667	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		84	297	0	0	0	1	0	84	297				
PLCD4	84812	broad.mit.edu	37	2	219494329	219494329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219494329G>A	ENST00000450993.2	+	8	1401	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000432688.1_Silent_p.L354L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	354	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GACACACCCTGACCTCCCGCA	0.602																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1060-1062)ctG>ctA		phospholipase C, delta 4							63.0	70.0	67.0					2																	219494329		2100	4213	6313	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219494329G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1062G>A	2.37:g.219494329G>A						PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000432688.1_Silent_p.L354L	p.L354L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1401	+		Renal(207;0.0915)	354			PI-PLC X-box.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.1062G>A	CCDS46516.1																																																																																				0.602	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			14	166	0	0	0	1	0	14	166				
ATR	545	broad.mit.edu	37	3	142232395	142232395	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142232395G>T	ENST00000350721.4	-	26	4710	c.4589C>A	c.(4588-4590)cCa>cAa	p.P1530Q	ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1530					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGAATATGTGGAAGAAGATA	0.358								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4588-4590)cCa>cAa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							134.0	122.0	126.0					3																	142232395		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142232395G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4589C>A	3.37:g.142232395G>T	ENSP00000343741:p.Pro1530Gln					ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	p.P1530Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			26	4710	-			1530					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4589C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669772	0.88348	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.39056	1.1;1.1	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74842	-0.3527	10	0.87932	D	0	-13.4082	18.397	0.90502	0.0:0.0:1.0:0.0	.	1530	Q13535	ATR_HUMAN	Q	1530;1466	ENSP00000343741:P1530Q;ENSP00000372581:P1466Q	ENSP00000343741:P1530Q	P	-	2	0	ATR	143715085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.415000	0.81967	0.491000	0.48974	CCA		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		56	279	1	0	1.22119e-34	1	1.45331e-34	56	279				
MS4A12	54860	broad.mit.edu	37	11	60271185	60271185	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60271185C>T	ENST00000016913.4	+	5	540	c.483C>T	c.(481-483)agC>agT	p.S161S	MS4A12_ENST00000537076.1_Silent_p.S115S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	161						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGAAAGGCAGCCTGGGAATGA	0.408																																						ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(481-483)agC>agT		membrane-spanning 4-domains, subfamily A, member 12							160.0	141.0	147.0					11																	60271185		2203	4300	6503	SO:0001819	synonymous_variant	54860					integral to membrane	receptor activity	g.chr11:60271185C>T	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.483C>T	11.37:g.60271185C>T						MS4A12_ENST00000537076.1_Silent_p.S115S	p.S161S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			5	540	+			161					F5GX98|Q8N6L4	Silent	SNP	ENST00000016913.4	37	c.483C>T	CCDS7988.1																																																																																				0.408	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			65	291	0	0	0	1	0	65	291				
LDB1	8861	broad.mit.edu	37	10	103869426	103869426	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103869426C>A	ENST00000425280.1	-	8	1005	c.663G>T	c.(661-663)caG>caT	p.Q221H	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Missense_Mutation_p.Q185H	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	221					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GATCCAACATCTGGGGGTCTT	0.532																																						ENST00000361198.5																			0				breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(553-555)caG>caT		LIM domain binding 1							95.0	98.0	97.0					10																	103869426		2203	4300	6503	SO:0001583	missense	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103869426C>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.663G>T	10.37:g.103869426C>A	ENSP00000392466:p.Gln221His					LDB1_ENST00000425280.1_Missense_Mutation_p.Q221H	p.Q185H	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	8	1178	-		Colorectal(252;0.122)	221					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	c.555G>T	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318692	0.60524	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.67	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.991;0.993	D;P	0.78314	0.991;0.77	T	0.64241	-0.6454	9	0.51188	T	0.08	-21.565	10.9601	0.47381	0.0:0.8573:0.0:0.1427	.	221;185	Q86U70;Q86U70-3	LDB1_HUMAN;.	H	185;221	.	ENSP00000354616:Q185H	Q	-	3	2	LDB1	103859416	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.162000	0.42367	1.416000	0.47057	-0.448000	0.05591	CAG		0.532	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		50	271	1	0	3.19069e-20	1	3.57165e-20	50	271				
LRRCC1	85444	broad.mit.edu	37	8	86042196	86042196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042196G>A	ENST00000360375.3	+	11	1818	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D537N	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	557					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCAGCTGCCGATAGAGAAAT	0.373																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1609-1611)Gat>Aat		leucine rich repeat and coiled-coil centrosomal protein 1							92.0	96.0	94.0					8																	86042196		1834	4087	5921	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86042196G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1669G>A	8.37:g.86042196G>A	ENSP00000353538:p.Asp557Asn					LRRCC1_ENST00000360375.3_Missense_Mutation_p.D557N	p.D537N			Q9C099	LRCC1_HUMAN			10	2498	+			557					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1609G>A	CCDS43750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.982000|2.982000	0.53827|0.53827	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375;ENST00000414626|ENST00000426019	T;T|.	0.30981|.	1.51;1.51|.	5.21|5.21	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.37348|.	N|.	0.002140|.	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.29908|0.29908	0.895|0.895	0.28037|0.28037	N|N	0.93392|0.93392	D;P;D;P|.	0.62365|.	0.974;0.954;0.991;0.743|.	B;B;P;B|.	0.46299|.	0.288;0.441;0.511;0.08|.	T|T	0.36529|0.36529	-0.9744|-0.9744	10|6	0.48119|0.87932	T|D	0.1|0	-23.6791|-23.6791	11.1003|11.1003	0.48170|0.48170	0.0:0.1393:0.7159:0.1448|0.0:0.1393:0.7159:0.1448	.|.	464;537;464;557|.	B4DV06;Q9C099-2;E9PE41;Q9C099|.	.;.;.;LRCC1_HUMAN|.	N|Q	557;537|276	ENSP00000353538:D557N;ENSP00000394695:D537N|.	ENSP00000353538:D557N|ENSP00000400370:R276Q	D|R	+|+	1|2	0|0	LRRCC1|LRRCC1	86229448|86229448	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	3.832000|3.832000	0.55783|0.55783	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.373	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		42	463	0	0	0	1	0	42	463				
PGBD1	84547	broad.mit.edu	37	6	28269797	28269797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269797G>A	ENST00000405948.2	+	7	2586	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	PGBD1_ENST00000259883.3_Silent_p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	722						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAATCCCTCAGATAAGTCAAC	0.413																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2164-2166)caG>caA		piggyBac transposable element derived 1							138.0	132.0	134.0					6																	28269797		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269797G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2166G>A	6.37:g.28269797G>A						PGBD1_ENST00000259883.3_Silent_p.Q722Q	p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2586	+			722					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.2166G>A	CCDS4648.1																																																																																				0.413	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			77	404	0	0	0	1	0	77	404				
METTL2A	339175	broad.mit.edu	37	17	60504005	60504005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60504005G>A	ENST00000311506.5	+	3	584	c.548G>A	c.(547-549)cGa>cAa	p.R183Q		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	183					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GCCACCTACCGAATACTGGAG	0.413																																						ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(547-549)cGa>cAa		methyltransferase like 2A							26.0	18.0	21.0					17																	60504005		1955	4109	6064	SO:0001583	missense	339175						methyltransferase activity	g.chr17:60504005G>A	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.548G>A	17.37:g.60504005G>A	ENSP00000309610:p.Arg183Gln						p.R183Q	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		3	584	+			183					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	37	c.548G>A	CCDS45752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.118826|5.118826	0.94385|0.94385	.|.	.|.	ENSG00000087995|ENSG00000087995	ENST00000333483|ENST00000311506	.|T	.|0.16743	.|2.32	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42381|0.42381	0.1200|0.1200	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.64042	.|0.921	T|T	0.37197|0.37197	-0.9716|-0.9716	6|10	0.29301|0.54805	T|T	0.29|0.06	0.0705|0.0705	15.4721|15.4721	0.75446|0.75446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|183	.|Q96IZ6	.|MTL2A_HUMAN	K|Q	182|183	.|ENSP00000309610:R183Q	ENSP00000331401:E182K|ENSP00000309610:R183Q	E|R	+|+	1|2	0|0	METTL2A|METTL2A	57857737|57857737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.073000|9.073000	0.93992|0.93992	2.431000|2.431000	0.82371|0.82371	0.555000|0.555000	0.69702|0.69702	GAA|CGA		0.413	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		16	62	0	0	0	1	0	16	62				
SPATA33	124045	broad.mit.edu	37	16	89735711	89735711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89735711C>T	ENST00000301031.4	+	3	226	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	SPATA33_ENST00000579310.1_Nonsense_Mutation_p.Q77*	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGATGTAAAGCAAAAGTCCAG	0.498																																						ENST00000301031.4																			0											c.(226-228)Caa>Taa		spermatogenesis associated 33							69.0	70.0	70.0					16																	89735711		2198	4300	6498	SO:0001587	stop_gained	124045							g.chr16:89735711C>T	AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"""chromosome 16 open reading frame 55"""	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.226C>T	16.37:g.89735711C>T	ENSP00000301031:p.Gln76*					SPATA33_ENST00000579310.1_Nonsense_Mutation_p.Q77*	p.Q76*	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1					3	226	+								A8WFL2|B4DZN8	Nonsense_Mutation	SNP	ENST00000301031.4	37	c.226C>T	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789969	0.50102	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	.	.	.	3.36	1.27	0.21489	.	0.972870	0.08356	N	0.958429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.8505	5.0447	0.14477	0.173:0.3363:0.4907:0.0	.	.	.	.	X	76;77	.	ENSP00000301031:Q76X	Q	+	1	0	C16orf55	88263212	0.000000	0.05858	0.275000	0.24674	0.341000	0.28922	-0.211000	0.09332	0.547000	0.28938	0.579000	0.79373	CAA		0.498	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		69	284	0	0	0	1	0	69	284				
SUPT5H	6829	broad.mit.edu	37	19	39955444	39955444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39955444C>T	ENST00000599117.1	+	12	998	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	211	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCCCTGCAGATCAAGTC	0.547																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(631-633)Cag>Tag		suppressor of Ty 5 homolog (S. cerevisiae)							81.0	78.0	79.0					19																	39955444		2203	4300	6503	SO:0001587	stop_gained	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39955444C>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.631C>T	19.37:g.39955444C>T	ENSP00000470252:p.Gln211*					SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*	p.Q211*			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		12	998	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		211			Interaction with SUPT4H1.		O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	ENST00000599117.1	37	c.631C>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	39	7.821838	0.98507	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.5112	18.4325	0.90632	0.0:1.0:0.0:0.0	.	.	.	.	X	211;207;189;211	.	.	Q	+	1	0	SUPT5H	44647284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.645000	0.89757	0.655000	0.94253	CAG		0.547	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		69	328	0	0	0	1	0	69	328				
XPO4	64328	broad.mit.edu	37	13	21383952	21383952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383952G>A	ENST00000255305.6	-	10	1399	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V	XPO4_ENST00000400602.2_Missense_Mutation_p.A443V			Q9C0E2	XPO4_HUMAN	exportin 4	443					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCCATCTGGAGCAGCTAGGTG	0.343																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1327-1329)gCt>gTt		exportin 4							76.0	73.0	74.0					13																	21383952		1838	4091	5929	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21383952G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1328C>T	13.37:g.21383952G>A	ENSP00000255305:p.Ala443Val					XPO4_ENST00000255305.6_Missense_Mutation_p.A443V	p.A443V	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	10	1363	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	443					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1328C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382149	0.82792	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.47869	0.83;0.83	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	L	0.55481	1.735	0.80722	D	1	B	0.28880	0.226	B	0.29524	0.103	T	0.34054	-0.9844	10	0.16420	T	0.52	-23.9262	20.4434	0.99119	0.0:0.0:1.0:0.0	.	443	Q9C0E2	XPO4_HUMAN	V	443;313;443	ENSP00000383444:A443V;ENSP00000255305:A443V	ENSP00000255305:A443V	A	-	2	0	XPO4	20281952	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.406000	0.97321	2.838000	0.97847	0.655000	0.94253	GCT		0.343	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		21	143	0	0	0	1	0	21	143				
CCDC114	93233	broad.mit.edu	37	19	48806314	48806314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806314C>T	ENST00000315396.7	-	9	1598	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	306					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAGTTCTGCTCGTTGATGAAG	0.592																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(916-918)Gag>Aag		coiled-coil domain containing 114							129.0	113.0	118.0					19																	48806314		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806314C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.916G>A	19.37:g.48806314C>T	ENSP00000318429:p.Glu306Lys						p.E306K	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	9	1598	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	306					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.916G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268026	0.59540	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.87	3.87	0.44632	.	.	.	.	.	T	0.59473	0.2196	M	0.81497	2.545	0.43399	D	0.995523	D;D;D	0.76494	0.999;0.991;0.991	D;B;P	0.76071	0.987;0.41;0.61	T	0.65092	-0.6252	9	0.72032	D	0.01	-17.7125	11.7482	0.51832	0.0:1.0:0.0:0.0	.	99;306;306	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	306	ENSP00000318429:E306K	ENSP00000318429:E306K	E	-	1	0	CCDC114	53498126	0.978000	0.34361	0.970000	0.41538	0.656000	0.38851	2.611000	0.46334	1.912000	0.55364	0.536000	0.68110	GAG		0.592	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		60	327	0	0	0	1	0	60	327				
URB2	9816	broad.mit.edu	37	1	229790133	229790133	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229790133A>G	ENST00000258243.2	+	9	4511	c.4375A>G	c.(4375-4377)Aag>Gag	p.K1459E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1459						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGAGGTACAGAAGGTAAAATT	0.478																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4375-4377)Aag>Gag		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							233.0	198.0	210.0					1																	229790133		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229790133A>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4375A>G	1.37:g.229790133A>G	ENSP00000258243:p.Lys1459Glu						p.K1459E	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			9	4511	+			1459					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.4375A>G	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769447	0.69992	.	.	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.44083	0.93;0.93	4.95	4.95	0.65309	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.092536	0.85682	D	0.000000	T	0.54743	0.1877	L	0.41824	1.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52087	-0.8622	9	.	.	.	-29.2915	14.9107	0.70755	1.0:0.0:0.0:0.0	.	1459	Q14146	URB2_HUMAN	E	1459;75	ENSP00000258243:K1459E;ENSP00000395107:K75E	.	K	+	1	0	URB2	227856756	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.236000	0.89805	1.976000	0.57569	0.528000	0.53228	AAG		0.478	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		10	414	0	0	0	1	0	10	414				
MYCBP2	23077	broad.mit.edu	37	13	77699592	77699592	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77699592A>G	ENST00000544440.2	-	54	7799	c.7782T>C	c.(7780-7782)tcT>tcC	p.S2594S	MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000357337.6_Silent_p.S2594S|MYCBP2_ENST00000407578.2_Silent_p.S2632S|MYCBP2_ENST00000482517.1_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)		ATGTCCCTTCAGAATTGGTTA	0.438																																						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.(7894-7896)tcT>tcC		MYC binding protein 2, E3 ubiquitin protein ligase							262.0	221.0	235.0					13																	77699592		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77699592A>G	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.7782T>C	13.37:g.77699592A>G						MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000357337.6_Silent_p.S2594S|MYCBP2_ENST00000544440.2_Silent_p.S2594S|MYCBP2_ENST00000482517.1_5'UTR	p.S2632S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	54	8162	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2594						Silent	SNP	ENST00000544440.2	37	c.7896T>C																																																																																					0.438	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		196	863	0	0	0	1	0	196	863				
CRB2	286204	broad.mit.edu	37	9	126132862	126132862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132862G>A	ENST00000373631.3	+	7	1531	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	CRB2_ENST00000373629.2_Silent_p.P178P|CRB2_ENST00000359999.3_Silent_p.P510P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	510	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGACTGCCGGACCTGGCCC	0.612																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1528-1530)ccG>ccA		crumbs homolog 2 (Drosophila)							81.0	68.0	72.0					9																	126132862		2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132862G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1530G>A	9.37:g.126132862G>A						CRB2_ENST00000359999.3_Silent_p.P510P|CRB2_ENST00000373629.2_Silent_p.P178P	p.P510P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1531	+			510			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.1530G>A	CCDS6852.2																																																																																				0.612	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		68	315	0	0	0	1	0	68	315				
ASPHD2	57168	broad.mit.edu	37	22	26830336	26830336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26830336G>A	ENST00000215906.5	+	2	1193	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	252					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGGACGTACCGCTTGCTCGGA	0.537																																						ENST00000215906.5																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(754-756)cGc>cAc		aspartate beta-hydroxylase domain containing 2							156.0	148.0	151.0					22																	26830336		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830336G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.755G>A	22.37:g.26830336G>A	ENSP00000215906:p.Arg252His						p.R252H	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	1193	+			252					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.755G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652026	0.88056	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67256	-0.5716	10	0.51188	T	0.08	-44.4226	17.0945	0.86631	0.0:0.0:1.0:0.0	.	252	Q6ICH7	ASPH2_HUMAN	H	252	ENSP00000215906:R252H	ENSP00000215906:R252H	R	+	2	0	ASPHD2	25160336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	CGC		0.537	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		125	510	0	0	0	1	0	125	510				
ACSM2B	348158	broad.mit.edu	37	16	20559396	20559396	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20559396G>T	ENST00000329697.6	-	8	1254	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G	ACSM2B_ENST00000565232.1_Silent_p.G362G|ACSM2B_ENST00000567001.1_Silent_p.G362G|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.G283G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	362					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTCTGTCTGGCCATAGAATT	0.507																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1084-1086)ggC>ggA		acyl-CoA synthetase medium-chain family member 2B							159.0	162.0	161.0					16																	20559396		2201	4300	6501	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20559396G>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1086C>A	16.37:g.20559396G>T						ACSM2B_ENST00000565322.1_Silent_p.G283G|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Silent_p.G362G|ACSM2B_ENST00000565232.1_Silent_p.G362G	p.G362G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			8	1254	-			362					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.1086C>A	CCDS10586.1																																																																																				0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		186	1035	1	0	5.75948e-69	1	7.30583e-69	186	1035				
DNAH2	146754	broad.mit.edu	37	17	7691258	7691258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691258C>A	ENST00000572933.1	+	43	8144	c.6684C>A	c.(6682-6684)gaC>gaA	p.D2228E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2228	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTACACTGACTACGCTGACC	0.547																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6682-6684)gaC>gaA		dynein, axonemal, heavy chain 2							77.0	73.0	74.0					17																	7691258		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691258C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6684C>A	17.37:g.7691258C>A	ENSP00000458355:p.Asp2228Glu					DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E	p.D2228E			Q9P225	DYH2_HUMAN			43	8144	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2228			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6684C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531386	0.64972	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87729	-2.29	5.07	0.635	0.17723	.	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	L	0.42008	1.315	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80266	-0.1454	10	0.10636	T	0.68	.	3.5746	0.07930	0.0:0.3903:0.1908:0.4189	.	2228	Q9P225	DYH2_HUMAN	E	2228	ENSP00000373825:D2228E	ENSP00000353818:D2228E	D	+	3	2	DNAH2	7631983	1.000000	0.71417	0.854000	0.33618	0.544000	0.35116	1.168000	0.31859	0.323000	0.23307	0.561000	0.74099	GAC		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		41	282	1	0	1.04594e-18	1	1.16214e-18	41	282				
LAMA5	3911	broad.mit.edu	37	20	60902995	60902995	+	Missense_Mutation	SNP	C	C	T	rs542983791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60902995C>T	ENST00000252999.3	-	36	4790	c.4724G>A	c.(4723-4725)cGc>cAc	p.R1575H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1575	Laminin EGF-like 14. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.R1575H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTCACAGGGGCGGCAGCGGGG	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15938	0.0		0.0	False		,,,				2504	0.0					ENST00000252999.3																			1	Substitution - Missense(1)	p.R1575H(1)	prostate(1)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(4723-4725)cGc>cAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						30.0	36.0	34.0					20																	60902995		2194	4289	6483	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60902995C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4724G>A	20.37:g.60902995C>T	ENSP00000252999:p.Arg1575His						p.R1575H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		36	4790	-	Breast(26;1.57e-08)		1575			Laminin EGF-like 14.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4724G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	3.127	-0.179311	0.06380	.	.	ENSG00000130702	ENST00000252999	T	0.55234	0.53	4.62	-3.75	0.04372	EGF-like, laminin (2);	0.165186	0.52532	N	0.000075	T	0.41050	0.1142	M	0.64260	1.97	0.58432	D	0.999998	B	0.13594	0.008	B	0.12837	0.008	T	0.25222	-1.0138	10	0.15952	T	0.53	.	10.799	0.46476	0.0:0.5224:0.0:0.4776	.	1575	O15230	LAMA5_HUMAN	H	1575	ENSP00000252999:R1575H	ENSP00000252999:R1575H	R	-	2	0	LAMA5	60336390	0.000000	0.05858	0.557000	0.28306	0.017000	0.09413	-0.706000	0.05047	-0.910000	0.03847	-1.008000	0.02478	CGC		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		15	388	0	0	0	1	0	15	388				
TTN	7273	broad.mit.edu	37	2	179454805	179454805	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454805G>T	ENST00000591111.1	-	254	56948	c.56724C>A	c.(56722-56724)atC>atA	p.I18908I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.I11609I|TTN_ENST00000460472.2_Silent_p.I11484I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.I20549I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18908	Ig-like 107.				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)			TCTTAGCTGAGATGATATACT	0.448																																						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.(61645-61647)atC>atA		titin							126.0	122.0	123.0					2																	179454805		1927	4142	6069	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454805G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56724C>A	2.37:g.179454805G>T						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.I11609I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN_ENST00000460472.2_Silent_p.I11484I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.I18908I|TTN-AS1_ENST00000592689.1_RNA	p.I20549I	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)		304	61871	-			18908			Fibronectin type-III 49.		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.61647C>A																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	370	1	0	3.62531e-18	1	4.01709e-18	37	370				
PTCHD4	442213	broad.mit.edu	37	6	47846089	47846089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47846089T>C	ENST00000339488.4	-	3	2524	c.2491A>G	c.(2491-2493)Att>Gtt	p.I831V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	831						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATGCATTCAATTTCCTCTCTC	0.413																																						ENST00000339488.4																			0											c.(2491-2493)Att>Gtt		patched domain containing 4							161.0	161.0	161.0					6																	47846089		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846089T>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2491A>G	6.37:g.47846089T>C	ENSP00000341914:p.Ile831Val						p.I831V	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2524	-			831					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2491A>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723098	0.48728	.	.	ENSG00000244694	ENST00000339488	D	0.91686	-2.89	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	N	0.17082	0.46	0.80722	D	1	P	0.43314	0.803	P	0.58873	0.847	D	0.88434	0.3037	10	0.23302	T	0.38	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	831	Q6ZW05	CF138_HUMAN	V	831	ENSP00000341914:I831V	ENSP00000341914:I831V	I	-	1	0	C6orf138	47954048	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.698000	0.84413	2.299000	0.77371	0.528000	0.53228	ATT		0.413	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		23	717	0	0	0	1	0	23	717				
EPHA10	284656	broad.mit.edu	37	1	38187396	38187396	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38187396C>A	ENST00000373048.4	-	11	2081	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGTGAGGGCCTCGGCCAGGA	0.672																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2080-2082)gaG>gaT		EPH receptor A10							16.0	20.0	19.0					1																	38187396		2026	4176	6202	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38187396C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2082G>T	1.37:g.38187396C>A	ENSP00000362139:p.Glu694Asp					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D|EPHA10_ENST00000540011.1_3'UTR	p.E694D	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			11	2081	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	694			Protein kinase.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.2082G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.018074	0.35606	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.81163	-1.46;-1.46;-1.46	4.07	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32328	N	0.006249	D	0.87865	0.6285	M	0.92649	3.33	0.80722	D	1	D	0.56746	0.977	P	0.55713	0.782	D	0.88495	0.3078	10	0.87932	D	0	.	8.8099	0.34961	0.0:0.7584:0.1517:0.0899	.	694	Q5JZY3	EPHAA_HUMAN	D	189;694;694	ENSP00000330379:E189D;ENSP00000397746:E694D;ENSP00000362139:E694D	ENSP00000330379:E189D	E	-	3	2	EPHA10	37959983	0.996000	0.38824	1.000000	0.80357	0.399000	0.30720	0.630000	0.24553	1.054000	0.40438	-0.339000	0.08088	GAG		0.672	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		34	121	1	0	2.42023e-17	1	2.67004e-17	34	121				
LIPF	8513	broad.mit.edu	37	10	90438204	90438204	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90438204C>T	ENST00000238983.4	+	10	1009	c.963C>T	c.(961-963)tcC>tcT	p.S321S	LIPF_ENST00000355843.2_Silent_p.S298S|LIPF_ENST00000394375.3_Silent_p.S331S|LIPF_ENST00000608620.1_Silent_p.S288S	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	321					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TTTTCTAGTCCCAACCTCCCT	0.443																																						ENST00000394375.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13						c.(991-993)tcC>tcT		lipase, gastric							183.0	168.0	173.0					10																	90438204		2203	4300	6503	SO:0001819	synonymous_variant	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90438204C>T	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.963C>T	10.37:g.90438204C>T						LIPF_ENST00000355843.2_Silent_p.S288S|LIPF_ENST00000496797.1_3'UTR|LIPF_ENST00000238983.4_Silent_p.S321S	p.S331S	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	11	1106	+		Colorectal(252;0.0161)	321					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	ENST00000238983.4	37	c.993C>T	CCDS7389.1																																																																																				0.443	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			38	884	0	0	0	1	0	38	884				
OCIAD1	54940	broad.mit.edu	37	4	48850458	48850458	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48850458T>G	ENST00000381473.3	+	5	654	c.236T>G	c.(235-237)cTt>cGt	p.L79R	OCIAD1_ENST00000425583.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R|OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	79	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ATCCCTAAACTTATACGTAAG	0.259																																						ENST00000425583.2																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(235-237)cTt>cGt		OCIA domain containing 1							73.0	73.0	73.0					4																	48850458		2203	4293	6496	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48850458T>G	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.236T>G	4.37:g.48850458T>G	ENSP00000370882:p.Leu79Arg					OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000381473.3_Missense_Mutation_p.L79R|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R	p.L79R	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			5	511	+			79			OCIA.		C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.236T>G	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280375	0.80692	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.53	5.53	0.82687	.	0.120460	0.56097	D	0.000038	T	0.61899	0.2384	L	0.55481	1.735	0.41182	D	0.98624	D;D;D;D	0.65815	0.995;0.995;0.995;0.991	D;P;P;D	0.64776	0.929;0.861;0.861;0.913	T	0.65467	-0.6161	10	0.72032	D	0.01	-12.937	13.6181	0.62121	0.0:0.0:0.0:1.0	.	52;79;79;79	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	R	79;52;52;79;79;79;79;79;79;79;79;79;79;79;25;25;25;25;79;79;79	ENSP00000423381:L79R;ENSP00000424041:L52R;ENSP00000423126:L52R;ENSP00000423845:L79R;ENSP00000424252:L79R;ENSP00000420917:L79R;ENSP00000264312:L79R;ENSP00000379725:L79R;ENSP00000426386:L79R;ENSP00000426902:L79R;ENSP00000427389:L79R;ENSP00000370882:L79R;ENSP00000399656:L79R;ENSP00000425633:L79R;ENSP00000420881:L25R;ENSP00000427363:L25R;ENSP00000425356:L25R;ENSP00000425968:L25R;ENSP00000416943:L79R;ENSP00000423002:L79R;ENSP00000423909:L79R	ENSP00000264312:L79R	L	+	2	0	OCIAD1	48545215	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.212000	0.65225	2.087000	0.62958	0.528000	0.53228	CTT		0.259	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		38	107	0	0	0	1	0	38	107				
SLC39A12	221074	broad.mit.edu	37	10	18284597	18284597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18284597G>A	ENST00000377369.2	+	10	1819	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	SLC39A12_ENST00000377371.3_Missense_Mutation_p.D515N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	516					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCCCAGAAGATTCACAGGC	0.353																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1546-1548)Gat>Aat		solute carrier family 39 (zinc transporter), member 12							47.0	54.0	52.0					10																	18284597		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18284597G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1546G>A	10.37:g.18284597G>A	ENSP00000366586:p.Asp516Asn					SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D515N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N	p.D516N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			10	1819	+			516					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1546G>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112274	0.77210	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.65	4.65	0.58169	.	1.707740	0.03073	N	0.157493	T	0.66973	0.2844	L	0.58969	1.84	0.51482	D	0.999928	D;B;D	0.61697	0.99;0.018;0.99	P;B;P	0.62014	0.897;0.1;0.897	T	0.50964	-0.8765	10	0.33141	T	0.24	-13.3985	14.7473	0.69499	0.0:0.0:1.0:0.0	.	515;516;479	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	N	516;479;515;382;436	ENSP00000366586:D516N;ENSP00000366591:D479N;ENSP00000366588:D515N;ENSP00000440445:D382N	ENSP00000366586:D516N	D	+	1	0	SLC39A12	18324603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.362000	0.66098	2.579000	0.87056	0.650000	0.86243	GAT		0.353	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		51	221	0	0	0	1	0	51	221				
EPHA1	2041	broad.mit.edu	37	7	143088579	143088579	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143088579G>T	ENST00000275815.3	-	18	2988	c.2902C>A	c.(2902-2904)Ctt>Att	p.L968I	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	968	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATACTGCAAAGAATGCGCTTC	0.612																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2902-2904)Ctt>Att		EPH receptor A1							95.0	61.0	73.0					7																	143088579		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143088579G>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2902C>A	7.37:g.143088579G>T	ENSP00000275815:p.Leu968Ile						p.L968I	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			18	2988	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	968			SAM.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2902C>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557575	0.65425	.	.	ENSG00000146904	ENST00000275815	T	0.57907	0.37	5.24	5.24	0.73138	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000084	T	0.60405	0.2266	L	0.49126	1.545	0.45025	D	0.99804	D	0.57571	0.98	P	0.55577	0.779	T	0.59648	-0.7415	10	0.48119	T	0.1	.	14.2692	0.66140	0.0729:0.0:0.9271:0.0	.	968	P21709	EPHA1_HUMAN	I	968	ENSP00000275815:L968I	ENSP00000275815:L968I	L	-	1	0	EPHA1	142798701	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.626000	0.46460	2.724000	0.93272	0.561000	0.74099	CTT		0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			32	152	1	0	8.4185e-14	1	9.11178e-14	32	152				
MEX3A	92312	broad.mit.edu	37	1	156047474	156047474	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047474C>A	ENST00000532414.2	-	2	454		c.e2-1		AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_Splice_Site	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATCTTGCAGCCTGGGATAGGG	0.547																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.e2-1		mex-3 RNA binding family member A							28.0	29.0	28.0					1																	156047474		2067	4218	6285	SO:0001630	splice_region_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047474C>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.455-1G>T	1.37:g.156047474C>A						MEX3A_ENST00000442784.1_Splice_Site		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	454	-	Hepatocellular(266;0.158)|all_neural(408;0.195)								Splice_Site	SNP	ENST00000532414.2	37		CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519069	0.64634	.	.	ENSG00000254726	ENST00000532414	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEX3A	154314098	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.527000	0.85204	0.462000	0.41574	.		0.547	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725	Intron	13	108	1	0	0.00185496	1	0.00187281	13	108				
ZNF467	168544	broad.mit.edu	37	7	149462850	149462850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149462850C>T	ENST00000302017.3	-	5	1154	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGCACTCCGCGCACGGGT	0.677																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(739-741)gcG>gcA		zinc finger protein 467							28.0	22.0	24.0					7																	149462850		2203	4300	6503	SO:0001819	synonymous_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462850C>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.741G>A	7.37:g.149462850C>T						ZNF467_ENST00000484747.1_Intron	p.A247A	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1154	-	Melanoma(164;0.165)|Ovarian(565;0.177)		247						Silent	SNP	ENST00000302017.3	37	c.741G>A	CCDS5899.1																																																																																				0.677	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		13	99	0	0	0	1	0	13	99				
STAU1	6780	broad.mit.edu	37	20	47768165	47768165	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47768165T>G	ENST00000371856.2	-	5	874	c.464A>C	c.(463-465)aAa>aCa	p.K155T	STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T|STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371828.3_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	155	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCTCAACGCTTTGGCAGCAGC	0.537																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(220-222)aAa>aCa		staufen double-stranded RNA binding protein 1							146.0	128.0	134.0					20																	47768165		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47768165T>G		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.464A>C	20.37:g.47768165T>G	ENSP00000360922:p.Lys155Thr					STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T|STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000371856.2_Missense_Mutation_p.K155T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T	p.K74T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		5	708	-			155			DRBM 1.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.221A>C	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039199	0.55003	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	T;T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.63	3.37	0.38596	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.096026	0.64402	D	0.000001	D	0.85204	0.5643	M	0.77313	2.365	0.58432	D	0.999998	D;D	0.56521	0.976;0.966	D;D	0.64410	0.925;0.923	D	0.84327	0.0519	10	0.87932	D	0	-7.0256	9.2526	0.37564	0.0:0.1472:0.0:0.8528	.	155;74	O95793;Q5JW29	STAU1_HUMAN;.	T	74;74;155;74;74;74;74;74;74;114	ENSP00000360893:K74T;ENSP00000345425:K74T;ENSP00000360922:K155T;ENSP00000353604:K74T;ENSP00000323443:K74T;ENSP00000360867:K74T;ENSP00000360857:K74T;ENSP00000416779:K74T;ENSP00000398785:K114T	ENSP00000345425:K74T	K	-	2	0	STAU1	47201572	1.000000	0.71417	0.218000	0.23776	0.234000	0.25298	3.912000	0.56386	0.433000	0.26313	0.533000	0.62120	AAA		0.537	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		61	310	0	0	0	1	0	61	310				
DNAH9	1770	broad.mit.edu	37	17	11696901	11696901	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11696901T>C	ENST00000262442.4	+	42	8211	c.8143T>C	c.(8143-8145)Tat>Cat	p.Y2715H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2715H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2715					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATCGAGTTTATCGGGATAA	0.398																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8143-8145)Tat>Cat		dynein, axonemal, heavy chain 9							138.0	135.0	136.0					17																	11696901		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11696901T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8143T>C	17.37:g.11696901T>C	ENSP00000262442:p.Tyr2715His					DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2715H	p.Y2715H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	42	8211	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2715					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8143T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611899	0.87258	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.40756	1.02;1.02	5.76	5.76	0.90799	.	0.140928	0.49916	D	0.000140	T	0.71281	0.3321	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78283	-0.2264	10	0.87932	D	0	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	2715	Q9NYC9	DYH9_HUMAN	H	2715;2715;1297	ENSP00000262442:Y2715H;ENSP00000414874:Y2715H	ENSP00000262442:Y2715H	Y	+	1	0	DNAH9	11637626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.841000	0.86834	2.191000	0.70037	0.533000	0.62120	TAT		0.398	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		86	382	0	0	0	1	0	86	382				
WFS1	7466	broad.mit.edu	37	4	6302625	6302625	+	Missense_Mutation	SNP	G	G	T	rs397517194		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6302625G>T	ENST00000226760.1	+	8	1273	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I	WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	368					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCAGGACAGCAAGGCCTGG	0.582																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1102-1104)aGc>aTc		Wolfram syndrome 1 (wolframin)							268.0	207.0	228.0					4																	6302625		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302625G>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1103G>T	4.37:g.6302625G>T	ENSP00000226760:p.Ser368Ile					WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1273	+			368					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1103G>T	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.70|16.70	3.195734|3.195734	0.58126|0.58126	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.90900	.|-2.75;-2.75	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.149328	.|0.56097	.|D	.|0.000026	D|D	0.92028|0.92028	0.7474|0.7474	M|M	0.62723|0.62723	1.935|1.935	0.49483|0.49483	D|D	0.999797|0.999797	.|P	.|0.43633	.|0.813	.|P	.|0.48840	.|0.592	D|D	0.93101|0.93101	0.6508|0.6508	5|10	.|0.72032	.|D	.|0.01	-32.0773|-32.0773	16.9399|16.9399	0.86215|0.86215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|368	.|O76024	.|WFS1_HUMAN	S|I	246|368	.|ENSP00000423337:S368I;ENSP00000226760:S368I	.|ENSP00000226760:S368I	A|S	+|+	1|2	0|0	WFS1|WFS1	6353526|6353526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.765000|0.765000	0.43378|0.43378	7.258000|7.258000	0.78371|0.78371	2.240000|2.240000	0.73641|0.73641	0.556000|0.556000	0.70494|0.70494	GCA|AGC		0.582	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			98	513	1	0	2.37326e-55	1	2.96608e-55	98	513				
SNX29P2	440352	broad.mit.edu	37	16	29367178	29367178	+	RNA	SNP	G	G	A	rs544148941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29367178G>A	ENST00000507381.1	+	0	315				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		TACTCCCTGCGCCACATCGCC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		19987	0.001		0.0	False		,,,				2504	0.0					ENST00000398878.3																			0																																																			0							g.chr16:29367178G>A	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29367178G>A						SNX29P2_ENST00000507381.1_RNA								0	1004	+									RNA	SNP	ENST00000507381.1	37																																																																																						0.652	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		41	171	0	0	0	1	0	41	171				
SLC38A10	124565	broad.mit.edu	37	17	79257209	79257209	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79257209C>A	ENST00000374759.3	-	4	740	c.357G>T	c.(355-357)caG>caT	p.Q119H	SLC38A10_ENST00000288439.5_Splice_Site_p.Q119H|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	119					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACATCCTTACCTGAAACCCGA	0.602																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e4+1		solute carrier family 38, member 10							82.0	56.0	65.0					17																	79257209		2201	4299	6500	SO:0001630	splice_region_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79257209C>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.357+1G>T	17.37:g.79257209C>A						SLC38A10_ENST00000288439.5_Splice_Site_p.Q119_splice	p.Q119_splice	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		4	740	-	all_neural(118;0.0804)|Melanoma(429;0.242)		119					Q6ZRC5|Q8NA99|Q96C66	Splice_Site	SNP	ENST00000374759.3	37	c.357_splice	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773057	0.90108	.	.	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T	0.10573	3.02;2.86	4.76	4.76	0.60689	.	5.897720	0.00166	N	0.000019	T	0.32912	0.0845	L	0.48642	1.525	0.80722	D	1	P;D	0.56968	0.942;0.978	P;D	0.63703	0.693;0.917	T	0.01613	-1.1312	9	.	.	.	-14.5591	18.1105	0.89534	0.0:1.0:0.0:0.0	.	119;119	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	H	119;119;71	ENSP00000363891:Q119H;ENSP00000288439:Q119H	.	Q	-	3	2	SLC38A10	76871804	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.103000	0.77014	2.334000	0.79466	0.561000	0.74099	CAG		0.602	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	Missense_Mutation	18	89	1	0	9.7654e-05	1	9.93505e-05	18	89				
CCDC15	80071	broad.mit.edu	37	11	124875078	124875078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124875078G>T	ENST00000344762.5	+	13	2640	c.2381G>T	c.(2380-2382)aGg>aTg	p.R794M	CCDC15_ENST00000529051.1_Missense_Mutation_p.R794M	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	794						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAACAACAAAGGCAAAAAGAA	0.323																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(2380-2382)aGg>aTg		coiled-coil domain containing 15							42.0	36.0	38.0					11																	124875078		1820	4075	5895	SO:0001583	missense	80071					centrosome		g.chr11:124875078G>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2381G>T	11.37:g.124875078G>T	ENSP00000341684:p.Arg794Met					CCDC15_ENST00000344762.5_Missense_Mutation_p.R794M	p.R794M			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	13	2640	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	794					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2381G>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224578	0.79576	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.51817	0.77;0.69	5.42	5.42	0.78866	.	0.203936	0.25302	N	0.031658	T	0.67924	0.2945	M	0.64404	1.975	0.34015	D	0.651963	D	0.89917	1.0	D	0.91635	0.999	T	0.76088	-0.3087	10	0.87932	D	0	-7.2111	18.3628	0.90380	0.0:0.0:1.0:0.0	.	794	Q0P6D6	CCD15_HUMAN	M	794	ENSP00000435403:R794M;ENSP00000341684:R794M	ENSP00000341684:R794M	R	+	2	0	CCDC15	124380288	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.052000	0.57420	2.689000	0.91719	0.655000	0.94253	AGG		0.323	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	33	1	0	0.004672	1	0.00470394	3	33				
ARMC12	221481	broad.mit.edu	37	6	35704922	35704922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35704922G>A	ENST00000373866.3	+	1	59	c.37G>A	c.(37-39)Gac>Aac	p.D13N	ARMC12_ENST00000288065.2_Missense_Mutation_p.D13N|ARMC12_ENST00000373869.3_Missense_Mutation_p.D13N|RP3-510O8.4_ENST00000452048.1_RNA			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	13						nucleus (GO:0005634)											GGGGCAACTGGACATCCGCAA	0.612											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373866.3																			0											c.(37-39)Gac>Aac		armadillo repeat containing 12							84.0	82.0	82.0					6																	35704922		2203	4300	6503	SO:0001583	missense	221481						binding	g.chr6:35704922G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.37G>A	6.37:g.35704922G>A	ENSP00000362973:p.Asp13Asn		OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	ARMC12_ENST00000288065.2_Missense_Mutation_p.D13N|ARMC12_ENST00000373869.3_Missense_Mutation_p.D13N	p.D13N			Q5T9G4	CF081_HUMAN			1	59	+			13					Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37	c.37G>A		.	.	.	.	.	.	.	.	.	.	G	10.97	1.502963	0.26949	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.45276	0.9;0.9;0.9	5.04	1.21	0.21127	.	0.539313	0.16857	N	0.196710	T	0.10594	0.0259	L	0.27053	0.805	0.21256	N	0.999746	B;B	0.14438	0.004;0.01	B;B	0.11329	0.004;0.006	T	0.27191	-1.0081	10	0.33940	T	0.23	-10.3233	6.7343	0.23401	0.3845:0.0:0.6155:0.0	.	13;13	Q5T9G4-3;Q5T9G4-2	.;.	N	13	ENSP00000362976:D13N;ENSP00000288065:D13N;ENSP00000362973:D13N	ENSP00000288065:D13N	D	+	1	0	C6orf81	35812900	0.997000	0.39634	0.983000	0.44433	0.346000	0.29079	1.065000	0.30592	0.549000	0.28973	0.449000	0.29647	GAC		0.612	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		70	298	0	0	0	1	0	70	298				
MC2R	4158	broad.mit.edu	37	18	13884825	13884825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884825G>T	ENST00000327606.3	-	2	873	c.693C>A	c.(691-693)tgC>tgA	p.C231*		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	231					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGGGGCCCAGCAGAAGATGA	0.557																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(691-693)tgC>tgA		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						75.0	67.0	70.0					18																	13884825		2203	4300	6503	SO:0001587	stop_gained	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884825G>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.693C>A	18.37:g.13884825G>T	ENSP00000333821:p.Cys231*						p.C231*	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	873	-			231					A8K016|Q3MI45|Q504X6	Nonsense_Mutation	SNP	ENST00000327606.3	37	c.693C>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843803	0.91197	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	.	.	.	5.18	-7.84	0.01196	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.112	0.93319	0.3369:0.0:0.6631:0.0	.	.	.	.	X	231	.	ENSP00000333821:C231X	C	-	3	2	MC2R	13874825	0.045000	0.20229	0.881000	0.34555	0.989000	0.77384	-0.731000	0.04909	-1.429000	0.01987	-0.302000	0.09304	TGC		0.557	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			48	230	1	0	1.76056e-25	1	2.02043e-25	48	230				
MYH15	22989	broad.mit.edu	37	3	108183499	108183499	+	Missense_Mutation	SNP	G	G	A	rs202208116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108183499G>A	ENST00000273353.3	-	16	1833	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	593	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCATAATGGACAAGTTCA	0.413																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1777-1779)Cat>Tat		myosin, heavy chain 15							157.0	153.0	154.0					3																	108183499		1863	4101	5964	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108183499G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1777C>T	3.37:g.108183499G>A	ENSP00000273353:p.His593Tyr						p.H593Y	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			16	1833	-			593			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1777C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829857	0.71258	.	.	ENSG00000144821	ENST00000273353	D	0.97066	-4.23	5.53	4.66	0.58398	Myosin head, motor domain (2);	.	.	.	.	D	0.99354	0.9773	H	0.99981	5.2	0.51233	D	0.999912	D	0.89917	1.0	D	0.97110	1.0	D	0.97639	1.0147	9	0.87932	D	0	.	14.1231	0.65203	0.0722:0.0:0.9278:0.0	.	593	Q9Y2K3	MYH15_HUMAN	Y	593	ENSP00000273353:H593Y	ENSP00000273353:H593Y	H	-	1	0	MYH15	109666189	1.000000	0.71417	0.326000	0.25389	0.809000	0.45718	7.441000	0.80485	1.344000	0.45657	0.655000	0.94253	CAT		0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		145	646	0	0	0	1	0	145	646				
THEMIS	387357	broad.mit.edu	37	6	128134756	128134756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134756G>A	ENST00000368248.2	-	4	1178	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000368250.1_Missense_Mutation_p.R265W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	344	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTCGGTCGCCGCTTGAACTTG	0.468																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(793-795)Cgg>Tgg		thymocyte selection associated							85.0	89.0	88.0					6																	128134756		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134756G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1030C>T	6.37:g.128134756G>A	ENSP00000357231:p.Arg344Trp					THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000368248.2_Missense_Mutation_p.R344W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W	p.R265W			Q8N1K5	THMS1_HUMAN			5	1291	-			344			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.793C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304997	0.60305	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.55	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83223	2.63	0.44816	D	0.997821	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59731	-0.7399	10	0.87932	D	0	-12.3425	18.7037	0.91630	0.0:0.0:0.1846:0.8154	.	344;344	F5H1J9;Q8N1K5	.;THMS1_HUMAN	W	265;344;344;309;112	ENSP00000357233:R265W;ENSP00000439594:R344W;ENSP00000357231:R344W;ENSP00000439863:R309W;ENSP00000387740:R112W	ENSP00000357231:R344W	R	-	1	2	THEMIS	128176449	0.996000	0.38824	0.996000	0.52242	0.990000	0.78478	0.253000	0.18296	-0.097000	0.12307	0.462000	0.41574	CGG		0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		100	399	0	0	0	1	0	100	399				
C1orf159	54991	broad.mit.edu	37	1	1021354	1021354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1021354A>G	ENST00000379339.1	-	9	667	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000448924.1_Missense_Mutation_p.F153L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	153						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTAATGAAGAACGTGCCCAGG	0.627																																						ENST00000448924.1																			0											c.(457-459)Ttc>Ctc		chromosome 1 open reading frame 159							63.0	63.0	63.0					1																	1021354		2203	4300	6503	SO:0001583	missense	54991					integral to membrane		g.chr1:1021354A>G	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.457T>C	1.37:g.1021354A>G	ENSP00000368644:p.Phe153Leu					C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Missense_Mutation_p.F153L	p.F153L			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	8	888	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	153					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37	c.457T>C		.	.	.	.	.	.	.	.	.	.	A	3.692	-0.063333	0.07273	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.71	0.953	0.19590	.	0.327541	0.30392	N	0.009729	T	0.16342	0.0393	N	0.05574	-0.02	0.23435	N	0.997682	B;B;B;B;B	0.25772	0.004;0.134;0.003;0.035;0.004	B;B;B;B;B	0.28139	0.004;0.086;0.006;0.086;0.004	T	0.23511	-1.0186	9	0.23302	T	0.38	-0.9141	7.575	0.27931	0.5555:0.0:0.4445:0.0	.	117;153;117;117;117	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	L	153;153;117;117;117;117;117;128;117	.	ENSP00000294576:F117L	F	-	1	0	C1orf159	1011217	0.906000	0.30813	0.004000	0.12327	0.027000	0.11550	1.415000	0.34748	-0.073000	0.12842	0.402000	0.26972	TTC		0.627	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		17	180	0	0	0	1	0	17	180				
KIF24	347240	broad.mit.edu	37	9	34263156	34263156	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34263156G>A	ENST00000402558.2	-	8	1482	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KIF24_ENST00000345050.2_Silent_p.I352I|KIF24_ENST00000379174.3_Silent_p.I352I|KIF24_ENST00000379166.2_Silent_p.I486I			Q5T7B8	KIF24_HUMAN	kinesin family member 24	486	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGTGCTCGGATACATTCCT	0.458																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1456-1458)atC>atT		kinesin family member 24							182.0	168.0	173.0					9																	34263156		1988	4160	6148	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34263156G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1458C>T	9.37:g.34263156G>A						KIF24_ENST00000402558.2_Silent_p.I486I|KIF24_ENST00000379174.3_Silent_p.I352I|KIF24_ENST00000345050.2_Silent_p.I352I	p.I486I	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		9	1577	-			486					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.1458C>T	CCDS6551.2																																																																																				0.458	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			18	82	0	0	0	1	0	18	82				
FSD2	123722	broad.mit.edu	37	15	83440974	83440974	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83440974G>T	ENST00000334574.8	-	7	1299	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	FSD2_ENST00000541889.1_Missense_Mutation_p.S373Y			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	373										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GACTGGAGCAGAAGGAGCTAG	0.498																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(1117-1119)tCt>tAt		fibronectin type III and SPRY domain containing 2							42.0	42.0	42.0					15																	83440974		1882	4124	6006	SO:0001583	missense	123722							g.chr15:83440974G>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1118C>A	15.37:g.83440974G>T	ENSP00000335651:p.Ser373Tyr					FSD2_ENST00000541889.1_Missense_Mutation_p.S373Y	p.S373Y			A1L4K1	FSD2_HUMAN			7	1299	-			373			Fibronectin type-III 1.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.1118C>A	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508891	0.64410	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.58797	0.31;1.7	5.42	4.45	0.53987	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057505	0.64402	D	0.000001	T	0.72779	0.3503	M	0.62723	1.935	0.43852	D	0.996446	D;D	0.76494	0.987;0.999	P;D	0.74348	0.883;0.983	T	0.75733	-0.3214	10	0.66056	D	0.02	-20.8773	16.226	0.82293	0.0:0.1776:0.8224:0.0	.	373;373	B7ZM02;A1L4K1	.;FSD2_HUMAN	Y	373	ENSP00000335651:S373Y;ENSP00000444078:S373Y	ENSP00000335651:S373Y	S	-	2	0	FSD2	81238028	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.199000	0.51043	2.525000	0.85131	0.561000	0.74099	TCT		0.498	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		19	54	1	0	5.03518e-11	1	5.3609e-11	19	54				
CROCC	9696	broad.mit.edu	37	1	17256517	17256517	+	Silent	SNP	G	G	A	rs529355496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17256517G>A	ENST00000375541.5	+	4	597	c.528G>A	c.(526-528)ctG>ctA	p.L176L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCAGCGGCTGCAGGGCAAGG	0.682													g|||	1	0.000199681	0.0	0.0	5008	,	,		23602	0.0		0.0	False		,,,				2504	0.001					ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(526-528)ctG>ctA		ciliary rootlet coiled-coil, rootletin							12.0	13.0	13.0					1																	17256517		2190	4251	6441	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17256517G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.528G>A	1.37:g.17256517G>A						CROCC_ENST00000467938.1_3'UTR	p.L176L	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	4	597	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	176						Silent	SNP	ENST00000375541.5	37	c.528G>A	CCDS30616.1																																																																																				0.682	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	40	0	0	0	1	0	5	40				
F13A1	2162	broad.mit.edu	37	6	6305593	6305593	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6305593A>G	ENST00000264870.3	-	3	575	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	104					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAATGACGTATTCCACCCTG	0.488																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(310-312)Tac>Cac		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						179.0	143.0	156.0					6																	6305593		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305593A>G	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.310T>C	6.37:g.6305593A>G	ENSP00000264870:p.Tyr104His						p.Y104H	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			3	575	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	104					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.310T>C	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224353	0.79576	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.84800	-1.9;-1.9	5.57	5.57	0.84162	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.061981	0.64402	D	0.000002	D	0.88706	0.6509	M	0.63428	1.95	0.43637	D	0.996032	D	0.76494	0.999	D	0.75020	0.985	D	0.89982	0.4101	10	0.62326	D	0.03	.	13.6975	0.62589	1.0:0.0:0.0:0.0	.	104	P00488	F13A_HUMAN	H	104;104;142	ENSP00000264870:Y104H;ENSP00000413334:Y104H	ENSP00000264870:Y104H	Y	-	1	0	F13A1	6250592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.254000	0.65457	2.117000	0.64856	0.528000	0.53228	TAC		0.488	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		47	231	0	0	0	1	0	47	231				
FTCD	10841	broad.mit.edu	37	21	47571627	47571627	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47571627C>T	ENST00000291670.5	-	5	524	c.481G>A	c.(481-483)Gac>Aac	p.D161N	FTCD_ENST00000397748.1_Missense_Mutation_p.D161N|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N|FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	161	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGACCAAAGTCGGGCGCCCAG	0.652																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(481-483)Gac>Aac		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						44.0	55.0	51.0					21																	47571627		2202	4300	6502	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47571627C>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.481G>A	21.37:g.47571627C>T	ENSP00000291670:p.Asp161Asn					FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD_ENST00000291670.5_Missense_Mutation_p.D161N|FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N	p.D161N			O95954	FTCD_HUMAN		Colorectal(79;0.235)	5	524	-	Breast(49;0.214)		161			Formiminotransferase N-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.481G>A	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773417	0.90108	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.57	4.57	0.56435	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase catalytic domain (1);Formiminotransferase, N-terminal subdomain (2);	0.120225	0.53938	D	0.000044	D	0.94640	0.8272	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.97;0.979;0.979	D	0.96523	0.9387	10	0.87932	D	0	.	17.362	0.87353	0.0:1.0:0.0:0.0	.	161;161;161	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	N	161	ENSP00000291670:D161N;ENSP00000380856:D161N;ENSP00000352707:D161N;ENSP00000347545:D161N;ENSP00000380854:D161N;ENSP00000380851:D161N	ENSP00000291670:D161N	D	-	1	0	FTCD	46396055	1.000000	0.71417	0.838000	0.33150	0.449000	0.32228	7.593000	0.82686	2.073000	0.62155	0.591000	0.81541	GAC		0.652	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		56	249	0	0	0	1	0	56	249				
ACTL9	284382	broad.mit.edu	37	19	8808399	8808399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808399G>A	ENST00000324436.3	-	1	773	c.653C>T	c.(652-654)aCg>aTg	p.T218M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	218						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGACGCTCCGTGGCGTGGAG	0.682																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(652-654)aCg>aTg		actin-like 9							45.0	43.0	44.0					19																	8808399		2203	4299	6502	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808399G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.653C>T	19.37:g.8808399G>A	ENSP00000316674:p.Thr218Met						p.T218M	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	773	-			218					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.653C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173331	0.38413	.	.	ENSG00000181786	ENST00000324436	D	0.94650	-3.48	4.55	3.32	0.38043	.	0.481200	0.17329	N	0.178213	D	0.93177	0.7827	L	0.54965	1.715	0.25461	N	0.987911	D	0.60575	0.988	P	0.50934	0.654	D	0.86983	0.2105	10	0.87932	D	0	.	6.5417	0.22385	0.2932:0.0:0.7068:0.0	.	218	Q8TC94	ACTL9_HUMAN	M	218	ENSP00000316674:T218M	ENSP00000316674:T218M	T	-	2	0	ACTL9	8669399	0.463000	0.25799	0.842000	0.33263	0.863000	0.49368	1.042000	0.30303	0.920000	0.36970	0.462000	0.41574	ACG		0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		7	331	0	0	0	1	0	7	331				
ABCG2	9429	broad.mit.edu	37	4	89034473	89034473	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89034473G>A	ENST00000237612.3	-	9	1721	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	ABCG2_ENST00000515655.1_Silent_p.P392P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	392	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TAGAGGCCTGGGGATTACCCA	0.423																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1174-1176)ccC>ccT		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						112.0	113.0	112.0					4																	89034473		2203	4300	6503	SO:0001819	synonymous_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89034473G>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1176C>T	4.37:g.89034473G>A						ABCG2_ENST00000515655.1_Silent_p.P392P	p.P392P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	9	1721	-		Hepatocellular(203;0.114)	392			ABC transmembrane type-2.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	c.1176C>T	CCDS3628.1																																																																																				0.423	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		112	455	0	0	0	1	0	112	455				
C9orf131	138724	broad.mit.edu	37	9	35045017	35045017	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35045017C>T	ENST00000312292.5	+	2	2438	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	C9orf131_ENST00000421362.2_Silent_p.S749S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.S724S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	797										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGCGGCAGAGCCCTGCCTCCA	0.577																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2389-2391)agC>agT		chromosome 9 open reading frame 131							130.0	138.0	135.0					9																	35045017		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35045017C>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2391C>T	9.37:g.35045017C>T						C9orf131_ENST00000354479.5_Silent_p.S724S|C9orf131_ENST00000421362.2_Silent_p.S749S	p.S797S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2438	+	all_epithelial(49;0.22)		797					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.2391C>T	CCDS6572.2																																																																																				0.577	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		209	1075	0	0	0	1	0	209	1075				
PKHD1	5314	broad.mit.edu	37	6	51918850	51918850	+	Silent	SNP	C	C	T	rs143226202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51918850C>T	ENST00000371117.3	-	20	2225	c.1950G>A	c.(1948-1950)agG>agA	p.R650R	PKHD1_ENST00000340994.4_Silent_p.R650R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	650					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGGGGCTGGTCCTCGTGAGAC	0.512													C|||	5	0.000998403	0.0008	0.0	5008	,	,		18328	0.0		0.003	False		,,,				2504	0.001					ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1948-1950)agG>agA		polycystic kidney and hepatic disease 1 (autosomal recessive)		C	,	2,4404	4.2+/-10.8	0,2,2201	102.0	84.0	90.0		1950,1950	-2.2	0.0	6	dbSNP_134	90	20,8580	14.0+/-48.4	0,20,4280	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	0,22,6481	TT,TC,CC		0.2326,0.0454,0.1692	,	650/4075,650/3397	51918850	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918850C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1950G>A	6.37:g.51918850C>T						PKHD1_ENST00000340994.4_Silent_p.R650R	p.R650R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			20	2225	-	Lung NSC(77;0.0605)		650					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1950G>A	CCDS4935.1																																																																																				0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		5	199	0	0	0	1	0	5	199				
PZP	5858	broad.mit.edu	37	12	9317762	9317762	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9317762G>T	ENST00000261336.2	-	19	2488	c.2460C>A	c.(2458-2460)gtC>gtA	p.V820V	PZP_ENST00000381997.2_Silent_p.V689V|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	820					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGTAGTTTAGGACCGTGGCCT	0.493																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(2458-2460)gtC>gtA		pregnancy-zone protein							127.0	121.0	123.0					12																	9317762		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9317762G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2460C>A	12.37:g.9317762G>T						PZP_ENST00000381997.2_Silent_p.V689V|PZP_ENST00000539983.1_5'UTR	p.V820V	NM_002864.2	NP_002855.2					19	2488	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.2460C>A	CCDS8600.1																																																																																				0.493	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		52	328	1	0	1.41401e-22	1	1.60156e-22	52	328				
ZNF300	91975	broad.mit.edu	37	5	150277639	150277639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150277639C>T	ENST00000274599.5	-	5	670	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T|ZNF300_ENST00000427179.1_Missense_Mutation_p.A84T|ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T|ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCCATCTGCCTGATATTCA	0.363																																						ENST00000427179.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(250-252)Gca>Aca		zinc finger protein 300							187.0	167.0	174.0					5																	150277639		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150277639C>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.250G>A	5.37:g.150277639C>T	ENSP00000274599:p.Ala84Thr					ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T|ZNF300_ENST00000274599.5_Missense_Mutation_p.A84T|ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T|ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T	p.A84T			Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	476	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	84					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.250G>A	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830383	0.50845	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.08102	3.17;3.17;3.13;5.86;3.17	3.48	1.65	0.23941	.	.	.	.	.	T	0.04679	0.0127	N	0.14661	0.345	0.24187	N	0.995566	B	0.10296	0.003	B	0.09377	0.004	T	0.45483	-0.9258	9	0.22109	T	0.4	.	7.2149	0.25955	0.0:0.7715:0.0:0.2285	.	84	Q96RE9	ZN300_HUMAN	T	100;84;48;84;84	ENSP00000397178:A100T;ENSP00000274599:A84T;ENSP00000392593:A48T;ENSP00000414195:A84T;ENSP00000377773:A84T	ENSP00000274599:A84T	A	-	1	0	ZNF300	150257832	0.004000	0.15560	0.827000	0.32855	0.975000	0.68041	0.432000	0.21461	0.287000	0.22375	0.563000	0.77884	GCA		0.363	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		80	358	0	0	0	1	0	80	358				
BUB1	699	broad.mit.edu	37	2	111398943	111398943	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111398943C>A	ENST00000302759.6	-	22	2842	c.2724G>T	c.(2722-2724)gtG>gtT	p.V908V	BUB1_ENST00000535254.1_Silent_p.V888V|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000478175.1_5'UTR	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	908	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CACAGTCATGCACTTGCTCAA	0.373																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2662-2664)gtG>gtT		BUB1 mitotic checkpoint serine/threonine kinase							123.0	121.0	122.0					2																	111398943		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398943C>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2724G>T	2.37:g.111398943C>A						BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Silent_p.V908V	p.V888V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2731	-		Ovarian(717;0.0822)	908			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.2664G>T	CCDS33273.1																																																																																				0.373	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		120	565	1	0	4.61678e-68	1	5.85161e-68	120	565				
ROBO2	6092	broad.mit.edu	37	3	75986709	75986709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75986709T>C	ENST00000487694.3	+	2	344	c.65T>C	c.(64-66)aTg>aCg	p.M22T		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	6					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTTGATGATGACTGTGGTG	0.463																																						ENST00000487694.3																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(64-66)aTg>aCg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							72.0	64.0	66.0					3																	75986709		876	1991	2867	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:75986709T>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000487694.3:c.65T>C	3.37:g.75986709T>C	ENSP00000417335:p.Met22Thr						p.M22T	NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	344	+			0					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000487694.3	37	c.65T>C	CCDS54609.1	.	.	.	.	.	.	.	.	.	.	T	0.582	-0.836472	0.02692	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019	T	0.60797	0.16	4.5	3.33	0.38152	.	.	.	.	.	T	0.41351	0.1155	N	0.08118	0	0.19945	N	0.999947	.	.	.	.	.	.	T	0.53725	-0.8398	6	0.87932	D	0	.	9.5773	0.39465	0.0:0.0946:0.0:0.9054	.	.	.	.	T	22	ENSP00000417335:M22T	ENSP00000342509:M22T	M	+	2	0	ROBO2	76069399	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	1.998000	0.40796	0.306000	0.22856	-1.525000	0.00928	ATG		0.463	ROBO2-013	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000467720.1	XM_031246		10	97	0	0	0	1	0	10	97				
ATP1A2	477	broad.mit.edu	37	1	160094128	160094128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160094128G>A	ENST00000361216.3	+	6	627	c.538G>A	c.(538-540)Gca>Aca	p.A180T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	180					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAGATCAACGCAGAGGAAGT	0.587																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(538-540)Gca>Aca		ATPase, Na+/K+ transporting, alpha 2 polypeptide							128.0	103.0	112.0					1																	160094128		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160094128G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.538G>A	1.37:g.160094128G>A	ENSP00000354490:p.Ala180Thr					ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	p.A180T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		6	627	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		180					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.538G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117388	0.94385	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91894	-2.93;-2.93	5.11	5.11	0.69529	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.62016	1.91	0.80722	D	1	B;B	0.34372	0.451;0.346	B;B	0.36666	0.147;0.23	D	0.88958	0.3391	10	0.44086	T	0.13	.	17.3108	0.87210	0.0:0.0:1.0:0.0	.	25;180	B4DHD7;P50993	.;AT1A2_HUMAN	T	25;180;180	ENSP00000354490:A180T;ENSP00000376066:A180T	ENSP00000354490:A180T	A	+	1	0	ATP1A2	158360752	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	9.869000	0.99810	2.388000	0.81334	0.655000	0.94253	GCA		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		26	80	0	0	0	1	0	26	80				
ZNF876P	642280	broad.mit.edu	37	4	248507	248507	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:248507C>T	ENST00000356347.3	+	0	1331					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTAGATGGTCCAGAAGCCTG	0.388																																						ENST00000356347.3																			0																																																			0							g.chr4:248507C>T	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.248507C>T								NR_027481.1						0	1331	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.388	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		18	74	0	0	0	1	0	18	74				
SAMD9	54809	broad.mit.edu	37	7	92730814	92730814	+	Nonsense_Mutation	SNP	G	G	A	rs375396225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92730814G>A	ENST00000379958.2	-	3	4866	c.4597C>T	c.(4597-4599)Cga>Tga	p.R1533*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1533						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCAGCTCGACCTTGTAAA	0.383																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4597-4599)Cga>Tga		sterile alpha motif domain containing 9							78.0	81.0	80.0					7																	92730814		2203	4300	6503	SO:0001587	stop_gained	54809					cytoplasm		g.chr7:92730814G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4597C>T	7.37:g.92730814G>A	ENSP00000369292:p.Arg1533*						p.R1533*	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4866	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1533					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	37	c.4597C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	43	10.085803	0.99333	.	.	ENSG00000205413	ENST00000379958	.	.	.	4.34	2.34	0.29019	.	0.399395	0.20515	U	0.090804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3242	0.43783	0.0:0.0:0.4711:0.5289	.	.	.	.	X	1533	.	ENSP00000369292:R1533X	R	-	1	2	SAMD9	92568750	0.003000	0.15002	0.750000	0.31169	0.630000	0.37929	1.478000	0.35442	1.173000	0.42796	0.609000	0.83330	CGA		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		38	307	0	0	0	1	0	38	307				
SALL2	6297	broad.mit.edu	37	14	21993139	21993139	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21993139G>T	ENST00000327430.3	-	2	1017	c.723C>A	c.(721-723)ctC>ctA	p.L241L	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGGGCTGAAGAGGGGTAGTA	0.602																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(721-723)ctC>ctA		spalt-like transcription factor 2							50.0	50.0	50.0					14																	21993139		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993139G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.723C>A	14.37:g.21993139G>T						SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron	p.L241L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1017	-	all_cancers(95;0.000662)		241					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.723C>A	CCDS32045.1																																																																																				0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		32	212	1	0	3.90053e-15	1	4.25374e-15	32	212				
AKAP6	9472	broad.mit.edu	37	14	33016050	33016050	+	Missense_Mutation	SNP	G	G	A	rs139751571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33016050G>A	ENST00000280979.4	+	4	2361	c.2191G>A	c.(2191-2193)Gct>Act	p.A731T	AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	731					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.A731T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATGCCTCTCGCTGGCATGAA	0.448													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			1	Substitution - Missense(1)	p.A731T(1)	large_intestine(1)	NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(2191-2193)Gct>Act		A kinase (PRKA) anchor protein 6		G	THR/ALA	26,4380	34.3+/-65.2	0,26,2177	64.0	62.0	62.0		2191	2.5	1.0	14	dbSNP_134	62	0,8600		0,0,4300	yes	missense	AKAP6	NM_004274.4	58	0,26,6477	AA,AG,GG		0.0,0.5901,0.1999	benign	731/2320	33016050	26,12980	2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33016050G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2191G>A	14.37:g.33016050G>A	ENSP00000280979:p.Ala731Thr					AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T	p.A731T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	2361	+	Breast(36;0.0388)|Prostate(35;0.15)		731					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.2191G>A	CCDS9644.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.915	0.538489	0.13250	0.005901	0.0	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.30448	1.53;1.53;1.53	6.17	2.52	0.30459	.	0.572707	0.18217	N	0.148006	T	0.10423	0.0255	N	0.08118	0	0.19775	N	0.99995	B;B	0.12630	0.001;0.006	B;B	0.08055	0.001;0.003	T	0.17410	-1.0370	10	0.46703	T	0.11	-1.973	7.7743	0.29029	0.2421:0.0:0.1282:0.6297	.	731;731	A7E242;Q13023	.;AKAP6_HUMAN	T	731	ENSP00000280979:A731T;ENSP00000450531:A731T;ENSP00000451247:A731T	ENSP00000280979:A731T	A	+	1	0	AKAP6	32085801	0.997000	0.39634	0.999000	0.59377	0.103000	0.19146	1.978000	0.40598	0.193000	0.20303	-1.006000	0.02489	GCT		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		32	321	0	0	0	1	0	32	321				
DGKA	1606	broad.mit.edu	37	12	56333198	56333198	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56333198G>T	ENST00000331886.5	+	9	1048		c.e9-1		DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGCCTTCCTAGACTCTGAAGG	0.542																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.e9-1		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						163.0	159.0	160.0					12																	56333198		2203	4300	6503	SO:0001630	splice_region_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56333198G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.595-1G>T	12.37:g.56333198G>T						DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site		NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			9	1048	+								O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Splice_Site	SNP	ENST00000331886.5	37		CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795930	0.31777	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8868	0.88858	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKA	54619465	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.343000	0.79319	2.838000	0.97847	0.591000	0.81541	.		0.542	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		Intron	28	737	1	0	2.65835e-16	1	2.91905e-16	28	737				
PDE4A	5141	broad.mit.edu	37	19	10572664	10572664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10572664G>A	ENST00000352831.6	+	13	1842	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000380702.2_Missense_Mutation_p.D556N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	578	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TAACTACTCCGACCGCATCCA	0.587																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1666-1668)Gac>Aac		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						128.0	103.0	112.0					19																	10572664		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10572664G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1732G>A	19.37:g.10572664G>A	ENSP00000270474:p.Asp578Asn					PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N|PDE4A_ENST00000352831.6_Missense_Mutation_p.D578N	p.D556N			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		14	1666	+			578			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.1666G>A	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271568	0.95429	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.49	4.49	0.54785	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.62016	1.91	0.80722	D	1	P;D;D;D;D	0.89917	0.865;1.0;1.0;1.0;1.0	B;D;D;D;D	0.80764	0.268;0.979;0.994;0.986;0.992	T	0.81560	-0.0877	10	0.45353	T	0.12	.	14.6592	0.68858	0.0:0.0:1.0:0.0	.	244;339;517;552;578	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	N	20;556;578;552;517;339;244	ENSP00000370078:D556N;ENSP00000270474:D578N;ENSP00000293683:D552N;ENSP00000394754:D517N;ENSP00000341007:D339N	ENSP00000293683:D552N	D	+	1	0	PDE4A	10433664	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.697000	0.98697	2.062000	0.61559	0.484000	0.47621	GAC		0.587	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			72	475	0	0	0	1	0	72	475				
ECT2L	345930	broad.mit.edu	37	6	139186158	139186158	+	Missense_Mutation	SNP	A	A	C	rs373325471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139186158A>C	ENST00000423192.1	+	11	1478	c.1317A>C	c.(1315-1317)caA>caC	p.Q439H	ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	439							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGATCCCAATGGGGAAAGG	0.428			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1315-1317)caA>caC		epithelial cell transforming sequence 2 oncogene-like							69.0	67.0	68.0					6																	139186158		1860	4095	5955	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139186158A>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1317A>C	6.37:g.139186158A>C	ENSP00000387388:p.Gln439His					ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H	p.Q439H			Q008S8	ECT2L_HUMAN			11	1478	+			439					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1317A>C	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	A	4.105	0.017592	0.07959	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75154	0.2;0.2;-0.91	5.08	-5.87	0.02297	.	2.073900	0.05119	U	0.490444	T	0.26702	0.0653	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.05370	-1.0889	10	0.30854	T	0.27	8.4498	1.4937	0.02461	0.4252:0.1031:0.2543:0.2174	.	370;439	F5H7S9;Q008S8	.;ECT2L_HUMAN	H	439;439;370	ENSP00000387388:Q439H;ENSP00000356655:Q439H;ENSP00000442307:Q370H	ENSP00000356655:Q439H	Q	+	3	2	ECT2L	139227851	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.178000	0.09782	-1.061000	0.03185	-0.462000	0.05337	CAA		0.428	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		62	269	0	0	0	1	0	62	269				
MLLT4	4301	broad.mit.edu	37	6	168312006	168312006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168312006G>T	ENST00000447894.2	+	15	1874	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	MLLT4_ENST00000366806.2_Missense_Mutation_p.S625I|MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	625					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TATACTAATAGCTCTACAGTC	0.348			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1873-1875)aGc>aTc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							93.0	97.0	96.0					6																	168312006		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168312006G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1874G>T	6.37:g.168312006G>T	ENSP00000404595:p.Ser625Ile					MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000447894.2_Missense_Mutation_p.S625I|MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I	p.S625I			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	15	2016	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	625					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.1874G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626529|4.626529	0.87560|0.87560	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.05025|.	3.71;3.62;3.71;3.72;3.51;3.62;3.62|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72301|.	0.3443|.	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	0.968;1.0;0.78;0.958|.	P;D;P;P|.	0.91635|.	0.661;0.999;0.673;0.772|.	T|.	0.71718|.	-0.4508|.	10|.	0.56958|.	D|.	0.05|.	-0.6453|-0.6453	19.2936|19.2936	0.94112|0.94112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;624;625;609|.	Q96C95;P55196-5;P55196-6;P55196-2|.	.;.;.;.|.	I|Y	625;625;625;625;609;625;624;625|323	ENSP00000341118:S625I;ENSP00000252692:S625I;ENSP00000375956:S625I;ENSP00000355771:S625I;ENSP00000375960:S609I;ENSP00000383623:S624I;ENSP00000404595:S625I|.	ENSP00000345834:S625I|.	S|X	+|+	2|3	0|2	MLLT4|MLLT4	168054855|168054855	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.983000|0.983000	0.72400|0.72400	9.273000|9.273000	0.95719|0.95719	2.554000|2.554000	0.86153|0.86153	0.467000|0.467000	0.42956|0.42956	AGC|TAG		0.348	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		71	421	1	0	4.81439e-37	1	5.77535e-37	71	421				
AP4E1	23431	broad.mit.edu	37	15	51293373	51293373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293373G>T	ENST00000261842.5	+	20	3352	c.3246G>T	c.(3244-3246)gaG>gaT	p.E1082D	AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1082					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATATTATTGAGATTATAGGTT	0.328																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(3244-3246)gaG>gaT		adaptor-related protein complex 4, epsilon 1 subunit							77.0	80.0	79.0					15																	51293373		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51293373G>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3246G>T	15.37:g.51293373G>T	ENSP00000261842:p.Glu1082Asp					AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D	p.E1082D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	20	3352	+			1082					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.3246G>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541238	0.00934	.	.	ENSG00000081014	ENST00000261842	T	0.18502	2.21	4.93	-3.71	0.04424	Coatomer, beta subunit, C-terminal (1);	0.312135	0.35615	N	0.003083	T	0.03651	0.0104	N	0.04203	-0.255	0.27938	N	0.937604	B	0.02656	0.0	B	0.08055	0.003	T	0.32824	-0.9892	10	0.02654	T	1	-3.3318	1.2787	0.02036	0.47:0.1469:0.1173:0.2658	.	1082	Q9UPM8	AP4E1_HUMAN	D	1082	ENSP00000261842:E1082D	ENSP00000261842:E1082D	E	+	3	2	AP4E1	49080665	0.066000	0.20996	0.442000	0.26870	0.102000	0.19082	-0.350000	0.07721	-0.513000	0.06496	-1.204000	0.01649	GAG		0.328	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			54	234	1	0	7.47603e-22	1	8.43918e-22	54	234				
ADAM29	11086	broad.mit.edu	37	4	175899058	175899058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175899058G>T	ENST00000359240.3	+	5	3052	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	794	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGCCTTCCCAGAGTCAACCTC	0.572																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2380-2382)caG>caT		ADAM metallopeptidase domain 29							153.0	143.0	146.0					4																	175899058		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899058G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2382G>T	4.37:g.175899058G>T	ENSP00000352177:p.Gln794His					ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H	p.Q794H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	3052	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	794			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2382G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	9.694	1.152653	0.21371	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	0.727	0.727	0.18254	.	.	.	.	.	T	0.02012	0.0063	N	0.08118	0	0.22835	N	0.998676	D	0.54964	0.969	P	0.52909	0.713	T	0.52328	-0.8590	8	.	.	.	.	4.5501	0.12108	0.0:0.4193:0.5806:0.0	.	794	Q9UKF5	ADA29_HUMAN	H	794	ENSP00000352177:Q794H;ENSP00000414544:Q794H;ENSP00000384229:Q794H;ENSP00000423517:Q794H	.	Q	+	3	2	ADAM29	176135633	0.001000	0.12720	0.031000	0.17742	0.054000	0.15201	0.177000	0.16801	0.675000	0.31264	0.297000	0.19635	CAG		0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				118	608	1	0	1.93806e-58	1	2.4311e-58	118	608				
VPS51	738	broad.mit.edu	37	11	64875903	64875903	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64875903G>A	ENST00000279281.3	+	5	1052	c.960G>A	c.(958-960)gcG>gcA	p.A320A	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	320					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGGTGGCGGCGGCCTACCAGG	0.701																																						ENST00000279281.3																			0											c.(958-960)gcG>gcA		vacuolar protein sorting 51 homolog (S. cerevisiae)							16.0	21.0	20.0					11																	64875903		2190	4288	6478	SO:0001819	synonymous_variant	738							g.chr11:64875903G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.960G>A	11.37:g.64875903G>A						VPS51_ENST00000527646.1_3'UTR	p.A320A	NM_013265.2	NP_037397.2					5	1052	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.960G>A	CCDS8093.1																																																																																				0.701	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		39	194	0	0	0	1	0	39	194				
LCP1	3936	broad.mit.edu	37	13	46730615	46730615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46730615G>A	ENST00000398576.2	-	8	837	c.449C>T	c.(448-450)aCg>aTg	p.T150M	LCP1_ENST00000323076.2_Missense_Mutation_p.T150M|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	150	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GAGATCATTCGTGTTTGGGTT	0.393			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(448-450)aCg>aTg		lymphocyte cytosolic protein 1 (L-plastin)							251.0	239.0	243.0					13																	46730615		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730615G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.449C>T	13.37:g.46730615G>A	ENSP00000381581:p.Thr150Met					LCP1_ENST00000323076.2_Missense_Mutation_p.T150M	p.T150M			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	8	837	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	150			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.449C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681947	0.47991	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.95788	-3.81;-3.81;-3.81	5.61	5.61	0.85477	Calponin homology domain (5);	0.043588	0.85682	D	0.000000	D	0.94509	0.8232	M	0.76170	2.325	0.80722	D	1	P	0.40638	0.725	B	0.34301	0.179	D	0.94563	0.7764	10	0.52906	T	0.07	-18.0852	18.9874	0.92777	0.0:0.0:1.0:0.0	.	150	P13796	PLSL_HUMAN	M	150	ENSP00000315757:T150M;ENSP00000381581:T150M;ENSP00000408052:T150M	ENSP00000315757:T150M	T	-	2	0	LCP1	45628616	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	3.691000	0.54720	2.813000	0.96785	0.655000	0.94253	ACG		0.393	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		119	739	0	0	0	1	0	119	739				
LDLRAD4	753	broad.mit.edu	37	18	13387753	13387753	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13387753C>A	ENST00000359446.5	+	2	500	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LDLRAD4_ENST00000361205.4_Missense_Mutation_p.A11D|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.A11D	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	11					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GCCACAAATGCTTTCACAGGT	0.577																																						ENST00000361205.4																			0											c.(31-33)gCt>gAt		low density lipoprotein receptor class A domain containing 4							148.0	123.0	131.0					18																	13387753		2203	4300	6503	SO:0001583	missense	753							g.chr18:13387753C>A	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.32C>A	18.37:g.13387753C>A	ENSP00000352420:p.Ala11Asp					LDLRAD4_ENST00000359446.5_Missense_Mutation_p.A11D|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.A11D	p.A11D	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					3	700	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.32C>A	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821178	0.50633	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	T;T	0.27557	1.68;1.66	4.93	4.93	0.64822	.	0.266496	0.28671	N	0.014536	T	0.25121	0.0610	N	0.14661	0.345	0.80722	D	1	B;P	0.36065	0.354;0.535	B;B	0.39805	0.31;0.164	T	0.10359	-1.0633	10	0.45353	T	0.12	-0.5824	18.1459	0.89655	0.0:1.0:0.0:0.0	.	11;11	O15165-2;O15165	.;CR001_HUMAN	D	11	ENSP00000354753:A11D;ENSP00000382741:A11D	ENSP00000354753:A11D	A	+	2	0	C18orf1	13377753	1.000000	0.71417	0.999000	0.59377	0.400000	0.30750	5.706000	0.68362	2.299000	0.77371	0.591000	0.81541	GCT		0.577	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		87	337	1	0	1.3521e-30	1	1.58719e-30	87	337				
FOXF2	2295	broad.mit.edu	37	6	1391220	1391220	+	Silent	SNP	G	G	A	rs144247905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1391220G>A	ENST00000259806.1	+	1	1152	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	346					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTGGCGCCTCGCCTTACCTCA	0.706																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(1036-1038)tcG>tcA		forkhead box F2							11.0	11.0	11.0					6																	1391220		2167	4227	6394	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391220G>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1038G>A	6.37:g.1391220G>A							p.S346S	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	1152	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	346					Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.1038G>A	CCDS4472.1																																																																																				0.706	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			14	73	0	0	0	1	0	14	73				
ISL2	64843	broad.mit.edu	37	15	76630302	76630302	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76630302A>G	ENST00000290759.4	+	2	402	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	81	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						AAGCGGGACTATGTCAGGTGA	0.731																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(241-243)tAt>tGt		ISL LIM homeobox 2							45.0	34.0	38.0					15																	76630302		2197	4294	6491	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76630302A>G	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.242A>G	15.37:g.76630302A>G	ENSP00000290759:p.Tyr81Cys						p.Y81C	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN			2	402	+			81			LIM zinc-binding 1.		B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.242A>G	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140328	0.77775	.	.	ENSG00000159556	ENST00000290759	D	0.93763	-3.28	4.58	4.58	0.56647	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.98633	1.0672	10	0.87932	D	0	.	12.8378	0.57784	1.0:0.0:0.0:0.0	.	81	Q96A47	ISL2_HUMAN	C	81	ENSP00000290759:Y81C	ENSP00000290759:Y81C	Y	+	2	0	ISL2	74417357	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.190000	0.77755	1.712000	0.51347	0.248000	0.18094	TAT		0.731	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			51	240	0	0	0	1	0	51	240				
KIAA1210	57481	broad.mit.edu	37	X	118223067	118223067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118223067C>A	ENST00000402510.2	-	11	2125	c.2126G>T	c.(2125-2127)aGc>aTc	p.S709I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	709										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TAAATCAAAGCTGAAAGCTTC	0.428																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(2125-2127)aGc>aTc		KIAA1210							43.0	42.0	43.0					X																	118223067		1909	4130	6039	SO:0001583	missense	57481							g.chrX:118223067C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2126G>T	X.37:g.118223067C>A	ENSP00000384670:p.Ser709Ile						p.S709I	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	2125	-			709					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2126G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.565356|2.565356	0.45694|0.45694	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.13657	.|2.57	4.44|4.44	3.57|3.57	0.40892|0.40892	.|.	.|.	.|.	.|.	.|.	T|T	0.16128|0.16128	0.0388|0.0388	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D	.|0.56035	.|0.974	.|P	.|0.50270	.|0.636	T|T	0.07731|0.07731	-1.0757|-1.0757	5|9	.|0.72032	.|D	.|0.01	.|.	8.7899|8.7899	0.34843|0.34843	0.2236:0.7764:0.0:0.0|0.2236:0.7764:0.0:0.0	.|.	.|709	.|Q9ULL0	.|K1210_HUMAN	H|I	115|709	.|ENSP00000384670:S709I	.|ENSP00000384670:S709I	Q|S	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118107095|118107095	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.029000|0.029000	0.11900|0.11900	-0.033000|-0.033000	0.12246|0.12246	1.205000|1.205000	0.43262|0.43262	0.506000|0.506000	0.49869|0.49869	CAG|AGC		0.428	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		54	176	1	0	8.52529e-16	1	9.33448e-16	54	176				
RCBTB2	1102	broad.mit.edu	37	13	49064315	49064315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49064315C>T	ENST00000344532.3	-	15	2011	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K|RCBTB2_ENST00000430805.2_Missense_Mutation_p.E535K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	530					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGGTCCATTTCTGCAAAACCT	0.383																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1588-1590)Gaa>Aaa		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							149.0	136.0	140.0					13																	49064315		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49064315C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1588G>A	13.37:g.49064315C>T	ENSP00000345144:p.Glu530Lys					RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K|RCBTB2_ENST00000430805.2_Missense_Mutation_p.E535K	p.E530K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	15	2011	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	530					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1588G>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	9.919	1.211695	0.22289	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.74632	0.03;0.04;-0.86	5.87	5.87	0.94306	.	0.043874	0.85682	D	0.000000	T	0.46483	0.1395	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.32573	0.004;0.0;0.376;0.0	B;B;B;B	0.30401	0.01;0.002;0.115;0.001	T	0.59005	-0.7535	10	0.02654	T	1	.	20.1998	0.98258	0.0:1.0:0.0:0.0	.	256;535;482;530	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	K	530;482;535;535;256	ENSP00000345144:E530K;ENSP00000389910:E535K;ENSP00000443862:E256K	ENSP00000345144:E530K	E	-	1	0	RCBTB2	47962316	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.587000	0.60991	2.778000	0.95560	0.655000	0.94253	GAA		0.383	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		10	310	0	0	0	1	0	10	310				
TAP2	6891	broad.mit.edu	37	6	32800519	32800519	+	Missense_Mutation	SNP	C	C	T	rs376467259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800519C>T	ENST00000452392.2	-	6	1201	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	TAP2_ENST00000374897.2_Missense_Mutation_p.R343H|TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CCCAAAACTGCGAACGGTCTG	0.607																																						ENST00000374897.2																			0											c.(1027-1029)cGc>cAc		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)		C	HIS/ARG,HIS/ARG	1,3019		0,1,1509	101.0	91.0	95.0		1028,1028	5.1	1.0	6		95	0,5418		0,0,2709	no	missense,missense	TAP2	NM_000544.3,NM_018833.2	29,29	0,1,4218	TT,TC,CC		0.0,0.0331,0.0119	probably-damaging,probably-damaging	343/704,343/654	32800519	1,8437	1510	2709	4219	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32800519C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1028G>A	6.37:g.32800519C>T	ENSP00000391806:p.Arg343His					TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000452392.2_Missense_Mutation_p.R343H	p.R343H	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			6	1159	-			343			ABC transmembrane type-1.|Involved in peptide-binding site.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.1028G>A		.	.	.	.	.	.	.	.	.	.	C	16.83	3.229945	0.58777	3.31E-4	0.0	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.82711	-1.64;-1.64;-1.64	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.219605	0.32204	N	0.006436	D	0.92489	0.7615	M	0.93507	3.425	0.39843	D	0.973139	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.986;0.986	D	0.93931	0.7214	9	0.87932	D	0	-13.3852	15.9458	0.79792	0.0:1.0:0.0:0.0	.	343;344;343;343	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	H	343	ENSP00000364034:R343H;ENSP00000364032:R343H;ENSP00000391806:R343H	ENSP00000364032:R343H	R	-	2	0	XXbac-BPG246D15.9;TAP2	32908497	0.997000	0.39634	1.000000	0.80357	0.131000	0.20780	2.933000	0.48948	2.619000	0.88677	0.549000	0.68633	CGC		0.607	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		16	480	0	0	0	1	0	16	480				
MDN1	23195	broad.mit.edu	37	6	90504402	90504402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90504402C>A	ENST00000369393.3	-	3	563	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	150					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGGCTGCTTCCATTAGGTCC	0.522																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(448-450)Gaa>Taa		MDN1, midasin homolog (yeast)							128.0	105.0	113.0					6																	90504402		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90504402C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.448G>T	6.37:g.90504402C>A	ENSP00000358400:p.Glu150*					MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*	p.E150*			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	3	563	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	150					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.448G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500931	0.97616	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.23	5.23	0.72850	.	0.061948	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000358400:E150X	E	-	1	0	MDN1	90561123	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.614000	0.88457	0.557000	0.71058	GAA		0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			69	265	1	0	2.165e-29	1	2.52906e-29	69	265				
LPAR5	57121	broad.mit.edu	37	12	6730346	6730346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6730346G>A	ENST00000329858.4	-	2	825	c.69C>T	c.(67-69)cgC>cgT	p.R23R	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.R23R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CCAAGTGCAGGCGGTGGGTAG	0.632																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(67-69)cgC>cgT		lysophosphatidic acid receptor 5							122.0	104.0	110.0					12																	6730346		2203	4300	6503	SO:0001819	synonymous_variant	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6730346G>A	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.69C>T	12.37:g.6730346G>A						LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.R23R	p.R23R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN			2	825	-			23						Silent	SNP	ENST00000329858.4	37	c.69C>T	CCDS8553.1																																																																																				0.632	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		16	83	0	0	0	1	0	16	83				
DHX15	1665	broad.mit.edu	37	4	24578221	24578221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24578221C>T	ENST00000336812.4	-	2	308	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	51					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ctccctctcTCGCTCTCTATC	0.448																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(151-153)cGa>cAa		DEAH (Asp-Glu-Ala-His) box helicase 15							178.0	155.0	163.0					4																	24578221		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578221C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.152G>A	4.37:g.24578221C>T	ENSP00000336741:p.Arg51Gln						p.R51Q	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			2	308	-		Breast(46;0.0503)	51					Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.152G>A	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507978	0.85282	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.62232	0.04	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.30357	-0.9981	10	0.37606	T	0.19	-21.7171	14.6448	0.68754	0.0:0.9286:0.0:0.0714	.	51	O43143	DHX15_HUMAN	Q	51;40	ENSP00000336741:R51Q	ENSP00000336741:R51Q	R	-	2	0	DHX15	24187319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.632000	0.67819	2.652000	0.90054	0.655000	0.94253	CGA		0.448	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		63	228	0	0	0	1	0	63	228				
PIGW	284098	broad.mit.edu	37	17	34893890	34893890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34893890G>A	ENST00000592983.1	+	2	1520	c.940G>A	c.(940-942)Gca>Aca	p.A314T	PIGW_ENST00000328396.2_Missense_Mutation_p.A314T|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	314					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTATGTGGCAATACACAT	0.423																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(940-942)Gca>Aca		phosphatidylinositol glycan anchor biosynthesis, class W							85.0	80.0	82.0					17																	34893890		2203	4300	6503	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893890G>A	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.940G>A	17.37:g.34893890G>A	ENSP00000468778:p.Ala314Thr					PIGW_ENST00000328396.2_Missense_Mutation_p.A314T|MYO19_ENST00000590081.1_Intron	p.A314T			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1520	+		Breast(25;0.00957)|Ovarian(249;0.17)	314					Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.940G>A	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794035	0.50102	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.18	2.9	0.33743	.	0.055454	0.64402	N	0.000001	T	0.63070	0.2480	M	0.69358	2.11	0.58432	D	0.999999	B	0.29162	0.235	B	0.39068	0.289	T	0.57388	-0.7820	8	.	.	.	-1.7743	11.1881	0.48669	0.1645:0.0:0.8355:0.0	.	314	Q7Z7B1	PIGW_HUMAN	T	314	.	.	A	+	1	0	PIGW	31968003	1.000000	0.71417	0.942000	0.38095	0.985000	0.73830	4.335000	0.59298	0.533000	0.28675	0.561000	0.74099	GCA		0.423	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		18	352	0	0	0	1	0	18	352				
SHROOM3	57619	broad.mit.edu	37	4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T	rs202185868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	292					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(874-876)Cga>Tga		shroom family member 3							50.0	49.0	49.0					4																	77660200		2203	4300	6503	SO:0001587	stop_gained	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660200C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.874C>T	4.37:g.77660200C>T	ENSP00000296043:p.Arg292*						p.R292*	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1827	+			292					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	c.874C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	45	11.398115	0.99556	.	.	ENSG00000138771	ENST00000296043	.	.	.	6.17	6.17	0.99709	.	0.389024	0.24334	N	0.039431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8083	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000296043:R292X	R	+	1	2	SHROOM3	77879224	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.624000	0.46444	2.941000	0.99782	0.655000	0.94253	CGA		0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		46	176	0	0	0	1	0	46	176				
CSF2RB	1439	broad.mit.edu	37	22	37331398	37331398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37331398C>T	ENST00000403662.3	+	11	1543	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P447S|CSF2RB_ENST00000262825.5_Missense_Mutation_p.P447S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P388S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	441					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAAGTGCTGCCTATGTGGGT	0.592																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1339-1341)Cct>Tct		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						140.0	105.0	117.0					22																	37331398		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37331398C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1321C>T	22.37:g.37331398C>T	ENSP00000384053:p.Pro441Ser					CSF2RB_ENST00000406230.1_Missense_Mutation_p.P447S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P388S|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P441S	p.P447S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			11	1556	+			441					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.1339C>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195812	0.38806	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92299	-2.5;-2.99;-2.99;-3.01	5.04	4.02	0.46733	.	0.223957	0.23002	N	0.053071	D	0.87597	0.6217	L	0.39566	1.225	0.41067	D	0.985429	B;P	0.47604	0.063;0.898	B;B	0.43575	0.061;0.424	D	0.84699	0.0727	10	0.27082	T	0.32	-19.3553	10.1041	0.42521	0.0:0.9056:0.0:0.0944	.	447;441	P32927-2;P32927	.;IL3RB_HUMAN	S	441;441;447;447;388	ENSP00000384053:P441S;ENSP00000262825:P447S;ENSP00000385271:P447S;ENSP00000440003:P388S	ENSP00000262825:P447S	P	+	1	0	CSF2RB	35661344	0.980000	0.34600	0.827000	0.32855	0.007000	0.05969	1.366000	0.34193	1.448000	0.47680	0.555000	0.69702	CCT		0.592	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		5	209	0	0	0	1	0	5	209				
KIAA1244	57221	broad.mit.edu	37	6	138576683	138576683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138576683C>T	ENST00000251691.4	+	10	1047	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGACTCTGCGTCTCCGGGA	0.597																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(880-882)gCg>gTg		KIAA1244							91.0	82.0	85.0					6																	138576683		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138576683C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.881C>T	6.37:g.138576683C>T	ENSP00000251691:p.Ala294Val						p.A294V	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	10	1047	+	Breast(32;0.135)		294						Missense_Mutation	SNP	ENST00000251691.4	37	c.881C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	5.937	0.356982	0.11239	.	.	ENSG00000112379	ENST00000251691	T	0.18657	2.2	5.57	3.8	0.43715	.	0.540113	0.21282	N	0.077130	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45877	-0.9231	10	0.13853	T	0.58	-19.3915	5.4561	0.16592	0.1404:0.6416:0.0:0.218	.	294	Q5TH69	BIG3_HUMAN	V	294	ENSP00000251691:A294V	ENSP00000251691:A294V	A	+	2	0	KIAA1244	138618376	0.028000	0.19301	0.022000	0.16811	0.010000	0.07245	2.061000	0.41403	0.726000	0.32339	0.655000	0.94253	GCG		0.597	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		65	309	0	0	0	1	0	65	309				
KRTAP13-1	140258	broad.mit.edu	37	21	31768629	31768629	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31768629C>A	ENST00000355459.2	+	1	238	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTCCAGCCCCTGCCAGACCT	0.612																																						ENST00000355459.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(223-225)ccC>ccA		keratin associated protein 13-1							62.0	63.0	62.0					21																	31768629		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768629C>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.225C>A	21.37:g.31768629C>A							p.P75P	NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN			1	238	+			75			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.225C>A	CCDS13590.2																																																																																				0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			11	342	1	0	0.000673444	1	0.000681208	11	342				
BTN3A1	11119	broad.mit.edu	37	6	26409847	26409847	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26409847T>C	ENST00000289361.6	+	5	1170	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	268					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGAGCCGGTTACTTCCTGTG	0.542																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(802-804)Tac>Cac		butyrophilin, subfamily 3, member A1							67.0	75.0	72.0					6																	26409847		2203	4300	6503	SO:0001583	missense	0				lipid metabolic process	integral to membrane		g.chr6:26409847T>C	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.802T>C	6.37:g.26409847T>C	ENSP00000289361:p.Tyr268His					BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H	p.Y268H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			5	1170	+			268					A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.802T>C	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	8.709	0.911664	0.17833	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.50813	3.81;1.11;3.78;0.73	1.49	1.49	0.22878	.	.	.	.	.	T	0.40862	0.1134	M	0.77616	2.38	0.09310	N	1	P;D;D;P	0.59767	0.956;0.986;0.986;0.906	P;P;P;B	0.54100	0.459;0.742;0.742;0.36	T	0.14531	-1.0469	9	0.51188	T	0.08	.	5.0923	0.14715	0.0:0.0:0.0:1.0	.	216;268;268;268	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	268;268;268;216	ENSP00000420010:Y268H;ENSP00000289361:Y268H;ENSP00000396684:Y268H;ENSP00000406667:Y216H	ENSP00000289361:Y268H	Y	+	1	0	BTN3A1	26517826	0.002000	0.14202	0.023000	0.16930	0.033000	0.12548	0.778000	0.26732	0.933000	0.37291	0.491000	0.48974	TAC		0.542	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			99	478	0	0	0	1	0	99	478				
OTUD4	54726	broad.mit.edu	37	4	146064545	146064545	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146064545T>G	ENST00000447906.2	-	17	1842	c.1655A>C	c.(1654-1656)aAg>aCg	p.K552T	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.K487T			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	552					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCACTCTAACTTCTTTGACTT	0.373																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1459-1461)aAg>aCg		OTU domain containing 4							109.0	103.0	105.0					4																	146064545		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146064545T>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1655A>C	4.37:g.146064545T>G	ENSP00000395487:p.Lys552Thr					OTUD4_ENST00000447906.2_Missense_Mutation_p.K552T|OTUD4_ENST00000455611.2_5'UTR	p.K487T	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			17	1597	-	all_hematologic(180;0.151)		551					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1460A>C		.	.	.	.	.	.	.	.	.	.	T	15.28	2.786624	0.49997	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.33438	1.42;1.41	5.93	5.93	0.95920	.	0.171326	0.42420	D	0.000705	T	0.25606	0.0623	L	0.32530	0.975	0.80722	D	1	B;B	0.14805	0.011;0.007	B;B	0.19391	0.025;0.011	T	0.03818	-1.1001	10	0.37606	T	0.19	-24.0895	12.7861	0.57507	0.0:0.0:0.0:1.0	.	552;551	G3V0I6;Q01804	.;OTUD4_HUMAN	T	487;552	ENSP00000409279:K487T;ENSP00000395487:K552T	ENSP00000395487:K552T	K	-	2	0	OTUD4	146283995	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.639000	0.37176	2.281000	0.76405	0.533000	0.62120	AAG		0.373	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	218	0	0	0	1	0	9	218				
C2CD5	9847	broad.mit.edu	37	12	22624371	22624371	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22624371T>G	ENST00000333957.4	-	20	2575	c.2320A>C	c.(2320-2322)Aat>Cat	p.N774H	C2CD5_ENST00000545552.1_Missense_Mutation_p.N787H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N776H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N774H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N765H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N774H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N589H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	774					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACTGTAAAATTTACATGGCAA	0.284																																						ENST00000333957.4																			0											c.(2320-2322)Aat>Cat		C2 calcium-dependent domain containing 5							66.0	70.0	69.0					12																	22624371		2203	4297	6500	SO:0001583	missense	9847							g.chr12:22624371T>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2320A>C	12.37:g.22624371T>G	ENSP00000334229:p.Asn774His					C2CD5_ENST00000545552.1_Missense_Mutation_p.N787H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N589H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N774H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N774H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N776H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N765H	p.N774H	NM_014802.1	NP_055617.1					20	2575	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2320A>C	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.19|18.19	3.568629|3.568629	0.65651|0.65651	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.66099|.	-0.16;-0.17;-0.19;-0.19;-0.17;-0.19|.	5.53|5.53	3.12|3.12	0.35913|0.35913	.|.	0.178860|.	0.46758|.	D|.	0.000265|.	T|.	0.53610|.	0.1807|.	L|L	0.46157|0.46157	1.445|1.445	0.45464|0.45464	D|D	0.998436|0.998436	D;D;D;D;D|.	0.89917|.	0.998;0.999;0.998;1.0;0.998|.	D;D;D;D;P|.	0.91635|.	0.953;0.949;0.979;0.999;0.896|.	T|.	0.41770|.	-0.9490|.	10|.	0.54805|.	T|.	0.06|.	-19.1171|-19.1171	7.0259|7.0259	0.24940|0.24940	0.1328:0.0726:0.0:0.7945|0.1328:0.0726:0.0:0.7945	.|.	776;774;589;765;774|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	H|Y	774;774;776;765;774;787;589|57	ENSP00000334229:N774H;ENSP00000388756:N774H;ENSP00000439392:N776H;ENSP00000379345:N765H;ENSP00000441951:N774H;ENSP00000443204:N787H|.	ENSP00000334229:N774H|.	N|X	-|-	1|3	0|2	KIAA0528|KIAA0528	22515638|22515638	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	5.257000|5.257000	0.65473|0.65473	0.364000|0.364000	0.24374|0.24374	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.284	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		63	265	0	0	0	1	0	63	265				
CROCCP2	84809	broad.mit.edu	37	1	16945377	16945377	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16945377G>A	ENST00000412962.1	-	0	2142				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGAGGAGTCCGCCAGATGGGA	0.602																																						ENST00000412962.1																			0																																																			0							g.chr1:16945377G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945377G>A														0	2142	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	174	0	0	0	1	0	5	174				
MAPK8IP2	23542	broad.mit.edu	37	22	51043397	51043397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51043397G>A	ENST00000399908.2	+	3	1588	c.872G>A	c.(871-873)gGt>gAt	p.G291D	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	557	Necessary for interaction with FGF13.|Ser-rich.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAGGCGGCGGTCAGGTCTCG	0.672																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(871-873)gGt>gAt		mitogen-activated protein kinase 8 interacting protein 2							22.0	27.0	25.0					22																	51043397		2096	4150	6246	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51043397G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.872G>A	22.37:g.51043397G>A	ENSP00000382792:p.Gly291Asp					MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D	p.G291D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1588	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	557			Ser-rich.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.872G>A		.	.	.	.	.	.	.	.	.	.	G	0.018	-1.485847	0.01018	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T	0.41758	2.31;0.99;1.34;2.31;2.29	4.55	-2.65	0.06095	Src homology-3 domain (1);	1.288170	0.05115	N	0.489545	T	0.23289	0.0563	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15350	-1.0440	9	0.23891	T	0.37	-13.0965	5.0843	0.14673	0.5027:0.2628:0.2345:0.0	.	529;557	E7EQG6;Q13387	.;JIP2_HUMAN	D	291;556;177;291;262	ENSP00000382796:G291D;ENSP00000330572:G556D;ENSP00000340015:G177D;ENSP00000382792:G291D;ENSP00000008876:G262D	ENSP00000008876:G262D	G	+	2	0	MAPK8IP2	49390263	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.607000	0.05648	-0.375000	0.07955	0.462000	0.41574	GGT		0.672	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		54	209	0	0	0	1	0	54	209				
PAXBP1	94104	broad.mit.edu	37	21	34110549	34110549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34110549G>A	ENST00000331923.4	-	16	2605	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1-AS1_ENST00000455170.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	806					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGAATATATCGATTTAATAAA	0.313																																						ENST00000331923.4																			0											c.(2416-2418)Cga>Tga		PAX3 and PAX7 binding protein 1							70.0	72.0	71.0					21																	34110549		2203	4295	6498	SO:0001587	stop_gained	94104							g.chr21:34110549G>A	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2416C>T	21.37:g.34110549G>A	ENSP00000328992:p.Arg806*					PAXBP1-AS1_ENST00000440052.1_RNA	p.R806*	NM_016631.3	NP_057715.2					16	2605	-								D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	ENST00000331923.4	37	c.2416C>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	39	7.832613	0.98513	.	.	ENSG00000159086	ENST00000331923	.	.	.	5.72	3.19	0.36642	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8421	12.4223	0.55527	0.0:0.0:0.2692:0.7308	.	.	.	.	X	806	.	ENSP00000328992:R806X	R	-	1	2	GCFC1	33032420	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.865000	0.27940	1.107000	0.41642	-0.388000	0.06559	CGA		0.313	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		43	195	0	0	0	1	0	43	195				
NOS3	4846	broad.mit.edu	37	7	150710326	150710326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150710326G>T	ENST00000297494.3	+	25	3471	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGGCTGCAGCCCACTCCCA	0.672											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3112-3114)caG>caT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						74.0	76.0	75.0					7																	150710326		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150710326G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3114G>T	7.37:g.150710326G>T	ENSP00000297494:p.Gln1038His		OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1734	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H|ATG9B_ENST00000377974.2_3'UTR	p.Q1038H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	25	3471	+	all_neural(206;0.219)		1038					Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.3114G>T	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466791	0.43839	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	D;D	0.86562	-2.14;-2.14	4.08	2.05	0.26809	Oxidoreductase FAD/NAD(P)-binding (1);	0.389995	0.22255	N	0.062486	T	0.75939	0.3918	N	0.21142	0.635	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.008;0.009	T	0.70296	-0.4911	10	0.54805	T	0.06	-6.9989	6.9468	0.24522	0.1009:0.0:0.7277:0.1715	.	832;1038	E7ESA7;P29474	.;NOS3_HUMAN	H	1038;832	ENSP00000297494:Q1038H;ENSP00000417143:Q832H	ENSP00000297494:Q1038H	Q	+	3	2	NOS3	150341259	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.259000	0.32956	1.025000	0.39708	0.484000	0.47621	CAG		0.672	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		94	434	1	0	1.69331e-39	1	2.04788e-39	94	434				
ATP10B	23120	broad.mit.edu	37	5	160047706	160047706	+	Silent	SNP	G	G	A	rs373898412		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160047706G>A	ENST00000327245.5	-	15	2910	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	688					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGATGTCGCCCTGGTCCC	0.602																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2062-2064)ggC>ggT		ATPase, class V, type 10B		G		0,4352		0,0,2176	50.0	52.0	51.0		2064	-10.7	0.0	5		51	1,8549		0,1,4274	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6450	AA,AG,GG		0.0117,0.0,0.0078		688/1462	160047706	1,12901	2176	4275	6451	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047706G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2064C>T	5.37:g.160047706G>A						CTC-348L5.1_ENST00000523598.1_RNA	p.G688G	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2910	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	688					Q9H725	Silent	SNP	ENST00000327245.5	37	c.2064C>T	CCDS43394.1																																																																																				0.602	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		58	240	0	0	0	1	0	58	240				
EDEM2	55741	broad.mit.edu	37	20	33725733	33725733	+	Missense_Mutation	SNP	G	G	A	rs570573727		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33725733G>A	ENST00000374492.3	-	5	545	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EDEM2_ENST00000374491.3_Missense_Mutation_p.S110F|EDEM2_ENST00000540582.1_Missense_Mutation_p.S106F|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	147					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGAGGCCCGGAACAGGGCCA	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15310	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(316-318)tCc>tTc		ER degradation enhancer, mannosidase alpha-like 2							86.0	93.0	90.0					20																	33725733		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33725733G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.440C>T	20.37:g.33725733G>A	ENSP00000363616:p.Ser147Phe					EDEM2_ENST00000374492.3_Missense_Mutation_p.S147F|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Missense_Mutation_p.S110F|EDEM2_ENST00000542871.1_Intron	p.S106F			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		9	1038	-			147					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.317C>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197311	0.94960	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.72615	-0.67;-0.67;-0.67	5.5	5.5	0.81552	.	0.103011	0.64402	D	0.000001	T	0.79713	0.4493	L	0.47716	1.5	0.80722	D	1	P;P;P	0.52316	0.857;0.941;0.952	P;P;P	0.60682	0.613;0.735;0.878	T	0.80341	-0.1423	10	0.87932	D	0	-13.1246	19.5944	0.95530	0.0:0.0:1.0:0.0	.	106;110;147	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	F	110;147;106	ENSP00000363615:S110F;ENSP00000363616:S147F;ENSP00000441548:S106F	ENSP00000363615:S110F	S	-	2	0	EDEM2	33189394	1.000000	0.71417	0.981000	0.43875	0.913000	0.54294	9.633000	0.98432	2.868000	0.98415	0.555000	0.69702	TCC		0.577	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		55	755	0	0	0	1	0	55	755				
PHKB	5257	broad.mit.edu	37	16	47730390	47730390	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47730390C>T	ENST00000323584.5	+	29	3018	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	PHKB_ENST00000299167.8_Silent_p.I998I|PHKB_ENST00000455779.1_Silent_p.I991I|PHKB_ENST00000566044.1_Silent_p.I991I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	998					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGACAGATCGTTGTAGAGG	0.423																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2971-2973)atC>atT		phosphorylase kinase, beta							114.0	101.0	105.0					16																	47730390		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47730390C>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2994C>T	16.37:g.47730390C>T						PHKB_ENST00000299167.8_Silent_p.I998I|PHKB_ENST00000566044.1_Silent_p.I991I|PHKB_ENST00000323584.5_Silent_p.I998I	p.I991I			Q93100	KPBB_HUMAN			30	3158	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	998					Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.2973C>T	CCDS10729.1																																																																																				0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			41	225	0	0	0	1	0	41	225				
ATP12A	479	broad.mit.edu	37	13	25281487	25281487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25281487C>T	ENST00000381946.3	+	17	2576	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	ATP12A_ENST00000218548.6_Silent_p.C809C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	803					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCGAGCTGTGCCCCTTTCTGA	0.488																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2425-2427)tgC>tgT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						200.0	192.0	195.0					13																	25281487		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25281487C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2409C>T	13.37:g.25281487C>T						ATP12A_ENST00000381946.3_Silent_p.C803C	p.C809C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	17	2760	+		Lung SC(185;0.0225)|Breast(139;0.077)	803					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.2427C>T	CCDS31948.1																																																																																				0.488	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		119	644	0	0	0	1	0	119	644				
BMP3	651	broad.mit.edu	37	4	81974600	81974600	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81974600C>A	ENST00000282701.2	+	3	1649	c.1329C>A	c.(1327-1329)tcC>tcA	p.S443S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	443					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AAAAGATGTCCTCACTCAGTA	0.428																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1327-1329)tcC>tcA		bone morphogenetic protein 3							149.0	156.0	153.0					4																	81974600		2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81974600C>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1329C>A	4.37:g.81974600C>A							p.S443S	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			3	1649	+			443					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.1329C>A	CCDS3588.1																																																																																				0.428	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			17	735	1	0	9.16793e-09	1	9.60025e-09	17	735				
STXBP5L	9515	broad.mit.edu	37	3	120976165	120976165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120976165G>A	ENST00000273666.6	+	17	2088	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	606					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACAAAGGACAGTATTCCATGC	0.373																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1816-1818)aGt>aAt		syntaxin binding protein 5-like							94.0	90.0	91.0					3																	120976165		1837	4083	5920	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976165G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1817G>A	3.37:g.120976165G>A	ENSP00000273666:p.Ser606Asn					STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N	p.S606N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	17	2088	+			606					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1817G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	8.995	0.978561	0.18812	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.34275	2.04;2.04;1.84;1.37;1.85;2.04	5.33	5.33	0.75918	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	N	0.25380	0.74	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.72338	0.977;0.977	T	0.19451	-1.0305	10	0.16896	T	0.51	-20.4634	19.3771	0.94514	0.0:0.0:1.0:0.0	.	606;606	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	606	ENSP00000273666:S606N;ENSP00000420019:S606N;ENSP00000419627:S606N;ENSP00000420287:S606N;ENSP00000420666:S606N;ENSP00000420167:S606N	ENSP00000273666:S606N	S	+	2	0	STXBP5L	122458855	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.514000	0.73746	2.647000	0.89833	0.460000	0.39030	AGT		0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			103	416	0	0	0	1	0	103	416				
MBD2	8932	broad.mit.edu	37	18	51750412	51750412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51750412C>T	ENST00000256429.3	-	1	746	c.518G>A	c.(517-519)gGc>gAc	p.G173D	MBD2_ENST00000583046.1_Missense_Mutation_p.G173D|SNORA37_ENST00000384504.1_RNA|MBD2_ENST00000398398.2_Missense_Mutation_p.G173D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	173	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		ATCGCTCTTGCCAGCACTTAG	0.667																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(517-519)gGc>gAc		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						31.0	31.0	31.0					18																	51750412		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51750412C>T	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.518G>A	18.37:g.51750412C>T	ENSP00000256429:p.Gly173Asp					MBD2_ENST00000398398.2_Missense_Mutation_p.G173D|MBD2_ENST00000583046.1_Missense_Mutation_p.G173D	p.G173D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	1	746	-			173			MBD.		O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.518G>A	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349590	0.41599	.	.	ENSG00000134046	ENST00000256429;ENST00000398398	D;D	0.99470	-5.96;-5.96	4.57	3.68	0.42216	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.074158	0.52532	N	0.000065	D	0.99444	0.9803	M	0.85041	2.73	0.52099	D	0.999944	D;D	0.89917	0.988;1.0	P;D	0.97110	0.85;1.0	D	0.98264	1.0500	10	0.87932	D	0	-12.6095	11.9532	0.52966	0.0:0.9096:0.0:0.0904	.	173;173	Q9UBB5-3;Q9UBB5	.;MBD2_HUMAN	D	173	ENSP00000256429:G173D;ENSP00000381435:G173D	ENSP00000256429:G173D	G	-	2	0	MBD2	50004410	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.193000	0.77780	2.074000	0.62210	0.491000	0.48974	GGC		0.667	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		13	140	0	0	0	1	0	13	140				
KCNA10	3744	broad.mit.edu	37	1	111060769	111060769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060769G>A	ENST00000369771.2	-	1	1028	c.641C>T	c.(640-642)gCt>gTt	p.A214V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGCACGGGCAGCGCTGGAACT	0.552																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(640-642)gCt>gTt		potassium voltage-gated channel, shaker-related subfamily, member 10							104.0	104.0	104.0					1																	111060769		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060769G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.641C>T	1.37:g.111060769G>A	ENSP00000358786:p.Ala214Val						p.A214V	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1028	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	214						Missense_Mutation	SNP	ENST00000369771.2	37	c.641C>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669436	0.29693	.	.	ENSG00000143105	ENST00000369771	T	0.63255	-0.03	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.83483	2.645	0.53005	D	0.999964	D	0.89917	1.0	D	0.83275	0.996	T	0.80039	-0.1549	10	0.62326	D	0.03	.	14.0696	0.64852	0.0728:0.0:0.9272:0.0	.	214	Q16322	KCA10_HUMAN	V	214	ENSP00000358786:A214V	ENSP00000358786:A214V	A	-	2	0	KCNA10	110862292	1.000000	0.71417	0.124000	0.21820	0.088000	0.18126	8.023000	0.88764	1.509000	0.48786	-0.137000	0.14449	GCT		0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		67	223	0	0	0	1	0	67	223				
MAPRE1	22919	broad.mit.edu	37	20	31413783	31413783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31413783G>A	ENST00000375571.5	+	2	189	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	17	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AACCTAAGTCGACATGACATG	0.443																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(49-51)cGa>cAa		microtubule-associated protein, RP/EB family, member 1							164.0	136.0	146.0					20																	31413783		2203	4300	6503	SO:0001583	missense	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31413783G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.50G>A	20.37:g.31413783G>A	ENSP00000364721:p.Arg17Gln						p.R17Q	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			2	189	+			17			CH.		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.50G>A	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996251	0.74818	.	.	ENSG00000101367	ENST00000375571	T	0.51574	0.7	5.76	4.82	0.62117	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	H	0.97051	3.93	0.80722	D	1	B	0.27791	0.189	B	0.14578	0.011	T	0.69379	-0.5161	10	0.72032	D	0.01	-1.0811	13.9326	0.64006	0.0725:0.0:0.9275:0.0	.	17	Q15691	MARE1_HUMAN	Q	17	ENSP00000364721:R17Q	ENSP00000364721:R17Q	R	+	2	0	MAPRE1	30877444	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.886000	0.87288	1.431000	0.47355	-0.140000	0.14226	CGA		0.443	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		93	386	0	0	0	1	0	93	386				
SLC6A5	9152	broad.mit.edu	37	11	20629158	20629158	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20629158G>T	ENST00000525748.1	+	5	1218	c.945G>T	c.(943-945)tgG>tgT	p.W315C		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	315					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACAACCCTTGGAATACGCCAG	0.373																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(943-945)tgG>tgT		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						137.0	131.0	133.0					11																	20629158		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20629158G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.945G>T	11.37:g.20629158G>T	ENSP00000434364:p.Trp315Cys						p.W315C	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			5	1218	+			315					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.945G>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279578	0.80692	.	.	ENSG00000165970	ENST00000525748	T	0.77098	-1.07	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.92251	0.7542	H	0.97465	4.01	0.80722	D	1	D	0.69078	0.997	D	0.63381	0.914	D	0.94527	0.7732	10	0.87932	D	0	.	19.4682	0.94951	0.0:0.0:1.0:0.0	.	315	Q9Y345	SC6A5_HUMAN	C	315	ENSP00000434364:W315C	ENSP00000434364:W315C	W	+	3	0	SLC6A5	20585734	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.699000	0.92147	0.563000	0.77884	TGG		0.373	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		13	701	1	0	4.3838e-07	1	4.54049e-07	13	701				
NPNT	255743	broad.mit.edu	37	4	106858269	106858269	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106858269G>A	ENST00000379987.2	+	4	585	c.369G>A	c.(367-369)ccG>ccA	p.P123P	NPNT_ENST00000453617.2_Silent_p.P140P|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000427316.2_Silent_p.P153P	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	123	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGCTCATGCCGGATGGTTCCT	0.468																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(367-369)ccG>ccA		nephronectin							171.0	140.0	150.0					4																	106858269		2203	4300	6503	SO:0001819	synonymous_variant	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106858269G>A		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.369G>A	4.37:g.106858269G>A						NPNT_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000453617.2_Silent_p.P140P|NPNT_ENST00000427316.2_Silent_p.P153P	p.P123P	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	4	585	+		Hepatocellular(203;0.217)	123			EGF-like 2; calcium-binding (Potential).		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	c.369G>A	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901179	0.17760	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.05	-4.08	0.03963	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	1.5229	0.02519	0.4598:0.199:0.1508:0.1904	.	.	.	.	R	100	.	.	G	+	1	0	NPNT	107077718	0.005000	0.15991	0.965000	0.40720	0.970000	0.65996	-1.179000	0.03090	-0.777000	0.04572	-0.165000	0.13383	GGA		0.468	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		121	478	0	0	0	1	0	121	478				
SLC4A3	6508	broad.mit.edu	37	2	220497695	220497695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220497695G>A	ENST00000358055.3	+	9	1753	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	414					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGAGGACAGGGCCAGCGTC	0.647																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(1240-1242)aGg>aAg		solute carrier family 4 (anion exchanger), member 3							66.0	58.0	61.0					2																	220497695		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220497695G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1241G>A	2.37:g.220497695G>A	ENSP00000350756:p.Arg414Lys					SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K	p.R414K			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1753	+		Renal(207;0.0183)	414					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.1241G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758539	0.89843	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.72	4.72	0.59763	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	L	0.53780	1.695	0.80722	D	1	D;D	0.63880	0.975;0.993	D;D	0.65323	0.934;0.916	T	0.74942	-0.3492	10	0.31617	T	0.26	.	17.71	0.88319	0.0:0.0:1.0:0.0	.	414;441	P48751;P48751-3	B3A3_HUMAN;.	K	414;414;441;441;414;216	ENSP00000350756:R414K;ENSP00000362865:R414K;ENSP00000273063:R441K;ENSP00000362867:R441K;ENSP00000314006:R414K;ENSP00000414722:R216K	ENSP00000273063:R441K	R	+	2	0	SLC4A3	220205939	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.859000	0.99545	2.163000	0.67991	0.643000	0.83706	AGG		0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		40	228	0	0	0	1	0	40	228				
GNB5	10681	broad.mit.edu	37	15	52425618	52425618	+	Missense_Mutation	SNP	C	C	T	rs201352368		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52425618C>T	ENST00000261837.7	-	9	885	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.V162M|GNB5_ENST00000358784.7_Missense_Mutation_p.V232M|GNB5_ENST00000559348.1_5'UTR	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	274					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AAGGCCTGCACGCACTGGCCG	0.493																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(820-822)Gtg>Atg		guanine nucleotide binding protein (G protein), beta 5		C	MET/VAL,MET/VAL	0,4390		0,0,2195	164.0	126.0	139.0		694,820	4.8	1.0	15		139	4,8582	3.7+/-12.6	0,4,4289	yes	missense,missense	GNB5	NM_006578.3,NM_016194.3	21,21	0,4,6484	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging,possibly-damaging	232/354,274/396	52425618	4,12972	2195	4293	6488	SO:0001583	missense	0					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52425618C>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.820G>A	15.37:g.52425618C>T	ENSP00000261837:p.Val274Met					GNB5_ENST00000358784.7_Missense_Mutation_p.V232M|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.V162M	p.V274M	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN		all cancers(107;0.0163)	9	885	-			274					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.820G>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925855	0.73213	0.0	4.66E-4	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.62105	0.05	5.78	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.126087	0.52532	D	0.000066	T	0.58764	0.2145	L	0.37630	1.12	0.80722	D	1	P;P	0.46621	0.881;0.871	P;P	0.51701	0.574;0.677	T	0.60860	-0.7179	10	0.66056	D	0.02	-18.5063	6.5084	0.22208	0.0:0.7194:0.0:0.2806	.	274;162	O14775;O14775-3	GBB5_HUMAN;.	M	274;232;72;162	ENSP00000261837:V274M	ENSP00000261837:V274M	V	-	1	0	GNB5	50212910	0.997000	0.39634	0.990000	0.47175	0.929000	0.56500	3.033000	0.49743	2.724000	0.93272	0.563000	0.77884	GTG		0.493	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			62	361	0	0	0	1	0	62	361				
RHOH	399	broad.mit.edu	37	4	40245060	40245060	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245060C>A	ENST00000381799.5	+	3	778	c.54C>A	c.(52-54)acC>acA	p.T18T	RHOH_ENST00000505618.1_Silent_p.T18T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	18					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGGGGAAAACCTCTCTGTTGG	0.562																																						ENST00000381799.4																			0				kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(52-54)acC>acA		ras homolog family member H							216.0	166.0	183.0					4																	40245060		2203	4300	6503	SO:0001819	synonymous_variant	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245060C>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.54C>A	4.37:g.40245060C>A						RHOH_ENST00000505618.1_Silent_p.T18T	p.T18T	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN			3	778	+			18						Silent	SNP	ENST00000381799.5	37	c.54C>A	CCDS3458.1																																																																																				0.562	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		58	275	1	0	3.40165e-17	1	3.75177e-17	58	275				
ARHGAP20	57569	broad.mit.edu	37	11	110451031	110451031	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110451031C>A	ENST00000260283.4	-	16	2923	c.2639G>T	c.(2638-2640)gGa>gTa	p.G880V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	880					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)		ATCCTCCTCTCCATGCAAGAG	0.453																																						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.(2638-2640)gGa>gTa		Rho GTPase activating protein 20							136.0	134.0	134.0					11																	110451031		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451031C>A	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.2639G>T	11.37:g.110451031C>A	ENSP00000260283:p.Gly880Val					ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V	p.G880V	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)	16	2923	-		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)	880					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.2639G>T	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118057	0.37339	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08984	3.03;3.04;3.07;3.03;3.04;3.04;3.04	5.14	2.18	0.27775	.	0.614672	0.15386	N	0.265082	T	0.16599	0.0399	M	0.65975	2.015	0.22001	N	0.999421	D;D;D	0.69078	0.997;0.996;0.997	D;P;D	0.64595	0.927;0.847;0.927	T	0.17837	-1.0356	10	0.27082	T	0.32	.	1.1436	0.01770	0.1462:0.3626:0.1419:0.3493	.	854;880;857	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	880;854;423;857;844;854;844	ENSP00000260283:G880V;ENSP00000349660:G854V;ENSP00000437905:G423V;ENSP00000432076:G857V;ENSP00000436319:G844V;ENSP00000436522:G854V;ENSP00000431399:G844V	ENSP00000260283:G880V	G	-	2	0	ARHGAP20	109956241	0.065000	0.20965	0.069000	0.20011	0.962000	0.63368	0.363000	0.20301	0.304000	0.22809	-1.105000	0.02106	GGA		0.453	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		168	637	1	0	1.32648e-55	1	1.65864e-55	168	637				
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	C	T	rs35647804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179465822C>T	ENST00000591111.1	-	238	51110	c.50886G>A	c.(50884-50886)ccG>ccA	p.P16962P	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.P18603P|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CATCATTCTTCGGGGGTTTCC	0.458																																						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.(55807-55809)ccG>ccA		titin							68.0	67.0	67.0					2																	179465822		1888	4119	6007	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179465822C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50886G>A	2.37:g.179465822C>T						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.P16962P	p.P18603P	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)		288	56033	-			16962			Fibronectin type-III 34.		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.55809G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		81	382	0	0	0	1	0	81	382				
PARVB	29780	broad.mit.edu	37	22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44559756G>A	ENST00000338758.7	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	322	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.A355T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTGTCCTTCGCCTTTGAGCT	0.627																																						ENST00000338758.6																			1	Substitution - Missense(1)	p.A355T(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(964-966)Gcc>Acc		parvin, beta							130.0	94.0	107.0					22																	44559756		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44559756G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.964G>A	22.37:g.44559756G>A	ENSP00000342492:p.Ala322Thr					PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	p.A322T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			12	1027	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	322			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.964G>A	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176810	0.78564	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.71579	-0.58;-0.58;-0.58	5.42	4.41	0.53225	Calponin homology domain (5);	0.050704	0.85682	D	0.000000	D	0.84325	0.5447	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	P;D;D;D	0.71870	0.899;0.959;0.975;0.971	D	0.85234	0.1034	10	0.87932	D	0	-0.2485	6.9974	0.24791	0.0882:0.0:0.7402:0.1716	.	322;285;322;355	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	T	355;322;285	ENSP00000384515:A355T;ENSP00000342492:A322T;ENSP00000384353:A285T	ENSP00000342492:A322T	A	+	1	0	PARVB	42891089	1.000000	0.71417	0.892000	0.35008	0.965000	0.64279	3.890000	0.56220	1.290000	0.44636	0.491000	0.48974	GCC		0.627	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		41	336	0	0	0	1	0	41	336				
ETV6	2120	broad.mit.edu	37	12	12022779	12022779	+	Silent	SNP	C	C	T	rs140005721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12022779C>T	ENST00000396373.4	+	5	1159	c.885C>T	c.(883-885)gaC>gaT	p.D295D		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	295					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTCCGAGGACGGGCTGCATA	0.592			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(883-885)gaC>gaT		ets variant 6		C		0,4406		0,0,2203	90.0	90.0	90.0		885	2.4	1.0	12	dbSNP_134	90	10,8590	6.4+/-24.3	0,10,4290	no	coding-synonymous	ETV6	NM_001987.4		0,10,6493	TT,TC,CC		0.1163,0.0,0.0769		295/453	12022779	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022779C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.885C>T	12.37:g.12022779C>T							p.D295D	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			5	1159	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	295					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	c.885C>T	CCDS8643.1																																																																																				0.592	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		80	522	0	0	0	1	0	80	522				
FAM120A	23196	broad.mit.edu	37	9	96233472	96233472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96233472G>A	ENST00000277165.6	+	2	718	c.524G>A	c.(523-525)aGa>aAa	p.R175K	FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K|FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	175						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTCTGCAGAGAGAATGGT	0.463																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(523-525)aGa>aAa		family with sequence similarity 120A							191.0	156.0	168.0					9																	96233472		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96233472G>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.524G>A	9.37:g.96233472G>A	ENSP00000277165:p.Arg175Lys					FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K	p.R175K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			2	718	+			175					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.524G>A	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982898|4.982898	0.93044|0.93044	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.50333|0.50333	1.59|1.59	0.44825|0.44825	D|D	0.997839|0.997839	.|B;D	.|0.56035	.|0.394;0.974	.|B;P	.|0.60541	.|0.187;0.876	T|T	0.63703|0.63703	-0.6577|-0.6577	5|10	.|0.72032	.|D	.|0.01	-14.9215|-14.9215	19.1566|19.1566	0.93514|0.93514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|175;175	.|Q9NZB2;Q9NZB2-2	.|F120A_HUMAN;.	K|K	18|175	.|ENSP00000364538:R175K;ENSP00000277165:R175K;ENSP00000334918:R175K;ENSP00000344698:R175K	.|ENSP00000277165:R175K	E|R	+|+	1|2	0|0	FAM120A|FAM120A	95273293|95273293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.697000|7.697000	0.84279|0.84279	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.463	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		66	284	0	0	0	1	0	66	284				
RFX2	5990	broad.mit.edu	37	19	6042117	6042117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6042117G>A	ENST00000303657.5	-	4	347	c.198C>T	c.(196-198)caC>caT	p.H66H	RFX2_ENST00000592546.1_Silent_p.H66H|RFX2_ENST00000359161.3_Silent_p.H66H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGGATACACGTGCTGCACCG	0.597																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(196-198)caC>caT		regulatory factor X, 2 (influences HLA class II expression)							136.0	100.0	112.0					19																	6042117		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6042117G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.198C>T	19.37:g.6042117G>A						RFX2_ENST00000359161.3_Silent_p.H66H|RFX2_ENST00000592546.1_Silent_p.H66H	p.H66H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			4	347	-			66					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.198C>T	CCDS12157.1																																																																																				0.597	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		32	449	0	0	0	1	0	32	449				
USP19	10869	broad.mit.edu	37	3	49153749	49153749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49153749C>T	ENST00000398888.2	-	8	1334	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000453664.1_Missense_Mutation_p.G430E	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	339	CS 2. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGTGGGGCCCACAGCCCGG	0.627																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1288-1290)gGg>gAg		ubiquitin specific peptidase 19							40.0	45.0	44.0					3																	49153749		2003	4166	6169	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153749C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1016G>A	3.37:g.49153749C>T	ENSP00000381863:p.Gly339Glu					USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000398888.2_Missense_Mutation_p.G339E|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E	p.G430E	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	9	1607	-			339					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1289G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885364	0.72410	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	6.07	6.07	0.98685	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.098181	0.64402	D	0.000001	T	0.33789	0.0875	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.998;0.981	T	0.00312	-1.1826	10	0.56958	D	0.05	-32.7097	15.6958	0.77494	0.0:0.8637:0.1363:0.0	.	503;440;430;339;377;425;145	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	E	145;377;440;430;377;339;440;425;425	ENSP00000381870:G145E;ENSP00000381872:G377E;ENSP00000395260:G440E;ENSP00000400090:G430E;ENSP00000381867:G377E;ENSP00000381863:G339E;ENSP00000401197:G440E;ENSP00000303503:G425E	ENSP00000303503:G425E	G	-	2	0	USP19	49128753	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.380000	0.66202	2.884000	0.98904	0.655000	0.94253	GGG		0.627	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		50	226	0	0	0	1	0	50	226				
MESDC1	59274	broad.mit.edu	37	15	81294944	81294944	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81294944G>A	ENST00000267984.2	+	1	1650	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	111										endometrium(1)|lung(2)	3						GCGGGGGACAGCCTGGTGGAG	0.721																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(331-333)aGc>aAc		mesoderm development candidate 1							14.0	13.0	13.0					15																	81294944		1995	3889	5884	SO:0001583	missense	59274							g.chr15:81294944G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.332G>A	15.37:g.81294944G>A	ENSP00000267984:p.Ser111Asn						p.S111N	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	1650	+			111						Missense_Mutation	SNP	ENST00000267984.2	37	c.332G>A	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326163	0.41197	.	.	ENSG00000140406	ENST00000267984	T	0.08193	3.12	4.02	4.02	0.46733	.	0.146929	0.45606	U	0.000351	T	0.05318	0.0141	N	0.14661	0.345	0.44181	D	0.996998	B	0.25169	0.119	B	0.24155	0.051	T	0.33214	-0.9877	10	0.56958	D	0.05	-15.6875	8.6701	0.34145	0.0:0.165:0.6648:0.1702	.	111	Q9H1K6	MESD1_HUMAN	N	111	ENSP00000267984:S111N	ENSP00000267984:S111N	S	+	2	0	MESDC1	79081999	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.930000	0.70104	1.935000	0.56089	0.313000	0.20887	AGC		0.721	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		18	107	0	0	0	1	0	18	107				
GNB3	2784	broad.mit.edu	37	12	6946916	6946916	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6946916G>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GCAGCGCATGGACCTGAGTCA	0.647																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							33.0	40.0	38.0					12																	6946916		2131	4244	6375	SO:0001631	upstream_gene_variant	10536							g.chr12:6946916G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6946916G>A	Exception_encountered					LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2					0	1765	+								Q96B71|Q9BQC0	RNA	SNP	ENST00000229264.3	37		CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488080	0.96323	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.68903	-0.36;-0.36	4.69	4.69	0.59074	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.109415	0.64402	D	0.000002	D	0.82852	0.5127	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85773	0.1356	9	0.87932	D	0	-15.8397	17.8129	0.88622	0.0:0.0:1.0:0.0	.	578	Q8IVL6	P3H3_HUMAN	N	577;393	ENSP00000379951:D577N;ENSP00000290510:D393N	ENSP00000290510:D393N	D	+	1	0	LEPREL2	6817177	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.263000	0.95617	2.434000	0.82447	0.561000	0.74099	GAC		0.647	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		16	75	0	0	0	1	0	16	75				
ZMPSTE24	10269	broad.mit.edu	37	1	40747106	40747106	+	Nonsense_Mutation	SNP	C	C	A	rs370823306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40747106C>A	ENST00000372759.3	+	7	1026	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	287					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TAGAAGAGTACTCTGTACTAA	0.393																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(859-861)taC>taA		zinc metallopeptidase STE24							96.0	97.0	97.0					1																	40747106		2203	4300	6503	SO:0001587	stop_gained	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40747106C>A	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.861C>A	1.37:g.40747106C>A	ENSP00000361845:p.Tyr287*						p.Y287*	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		7	1026	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	287					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Nonsense_Mutation	SNP	ENST00000372759.3	37	c.861C>A	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	37	6.521541	0.97633	.	.	ENSG00000084073	ENST00000372759	.	.	.	5.46	3.47	0.39725	.	0.054788	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.4102	6.7743	0.23611	0.0:0.5632:0.0:0.4368	.	.	.	.	X	287	.	ENSP00000361845:Y287X	Y	+	3	2	ZMPSTE24	40519693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.877000	0.39598	0.551000	0.29008	0.655000	0.94253	TAC		0.393	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			53	383	1	0	6.27289e-28	1	7.28045e-28	53	383				
REST	5978	broad.mit.edu	37	4	57776821	57776821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57776821T>C	ENST00000309042.7	+	2	331	c.17T>C	c.(16-18)aTg>aCg	p.M6T		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	6					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACCCAGGTAATGGGGCAGTCT	0.448																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(16-18)aTg>aCg		RE1-silencing transcription factor							58.0	49.0	52.0					4																	57776821		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57776821T>C	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.17T>C	4.37:g.57776821T>C	ENSP00000311816:p.Met6Thr						p.M6T	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	331	+	Glioma(25;0.08)|all_neural(26;0.181)		6					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.17T>C	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867927	0.72065	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.09255	3.0	5.79	5.79	0.91817	.	0.160766	0.44688	D	0.000440	T	0.10937	0.0267	L	0.44542	1.39	0.39693	D	0.971072	B;P	0.42827	0.066;0.791	B;B	0.35859	0.068;0.212	T	0.03268	-1.1054	10	0.87932	D	0	-22.3791	14.0692	0.64851	0.0:0.0:0.0:1.0	.	6;6	Q13127-2;Q13127	.;REST_HUMAN	T	6	ENSP00000311816:M6T	ENSP00000311816:M6T	M	+	2	0	REST	57471578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.670000	0.74467	2.212000	0.71576	0.459000	0.35465	ATG		0.448	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		42	154	0	0	0	1	0	42	154				
EZH2	2146	broad.mit.edu	37	7	148511157	148511157	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148511157A>G	ENST00000460911.1	-	15	1818	c.1730T>C	c.(1729-1731)gTc>gCc	p.V577A	EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A|EZH2_ENST00000320356.2_Missense_Mutation_p.V582A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A|EZH2_ENST00000350995.2_Missense_Mutation_p.V538A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	577	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACTCTCGGACAGCCAGGTA	0.547			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(1744-1746)gTc>gCc		enhancer of zeste homolog 2 (Drosophila)							177.0	162.0	167.0					7																	148511157		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148511157A>G		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1730T>C	7.37:g.148511157A>G	ENSP00000419711:p.Val577Ala					EZH2_ENST00000460911.1_Missense_Mutation_p.V577A|EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A|EZH2_ENST00000350995.2_Missense_Mutation_p.V538A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A	p.V582A	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		15	1866	-	Melanoma(164;0.15)		577			Cys-rich.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1745T>C	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	a	20.4	3.977289	0.74360	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.89746	-2.56;-1.29;-1.29;-1.29;-2.56;-2.56;-1.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	L	0.58302	1.8	0.80722	D	1	B;B;P;P;B	0.36944	0.19;0.295;0.574;0.566;0.3	B;B;B;B;B	0.40825	0.172;0.28;0.297;0.341;0.154	D	0.83610	0.0133	10	0.05721	T	0.95	.	15.3083	0.74011	1.0:0.0:0.0:0.0	.	568;526;577;538;582	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	A	526;582;577;538;526;526;568	ENSP00000417062:V526A;ENSP00000320147:V582A;ENSP00000419711:V577A;ENSP00000223193:V538A;ENSP00000443219:V526A;ENSP00000419050:V526A;ENSP00000419856:V568A	ENSP00000320147:V582A	V	-	2	0	EZH2	148142090	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.042000	0.93793	2.010000	0.58986	0.460000	0.39030	GTC		0.547	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		44	572	0	0	0	1	0	44	572				
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	74					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522																																						ENST00000225842.3																			0											c.(220-222)Gcc>Acc		chemokine (C-C motif) ligand 1							115.0	109.0	111.0					17																	32687649		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32687649C>T	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.220G>A	17.37:g.32687649C>T	ENSP00000225842:p.Ala74Thr						p.A74T	NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	3	289	-		Ovarian(249;0.0443)|Breast(31;0.133)	74					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.220G>A	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444285	0.63178	.	.	ENSG00000108702	ENST00000225842	T	0.07327	3.2	4.38	4.38	0.52667	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.594257	0.15696	N	0.249176	T	0.22166	0.0534	.	.	.	0.19575	N	0.999966	D	0.76494	0.999	D	0.65773	0.938	T	0.01899	-1.1251	9	0.41790	T	0.15	-6.7211	12.7477	0.57289	0.0:1.0:0.0:0.0	.	74	P22362	CCL1_HUMAN	T	74	ENSP00000225842:A74T	ENSP00000225842:A74T	A	-	1	0	CCL1	29711762	0.618000	0.27051	0.233000	0.24025	0.003000	0.03518	2.932000	0.48940	2.719000	0.93026	0.555000	0.69702	GCC		0.522	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		112	504	0	0	0	1	0	112	504				
PKHD1	5314	broad.mit.edu	37	6	51944773	51944773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51944773G>A	ENST00000371117.3	-	5	590	c.315C>T	c.(313-315)taC>taT	p.Y105Y	PKHD1_ENST00000340994.4_Silent_p.Y105Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	105	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCCAGGAAGTACAGACCCT	0.483																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(313-315)taC>taT		polycystic kidney and hepatic disease 1 (autosomal recessive)							171.0	151.0	158.0					6																	51944773		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944773G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.315C>T	6.37:g.51944773G>A						PKHD1_ENST00000340994.4_Silent_p.Y105Y	p.Y105Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			5	590	-	Lung NSC(77;0.0605)		105			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.315C>T	CCDS4935.1																																																																																				0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		21	593	0	0	0	1	0	21	593				
MED26	9441	broad.mit.edu	37	19	16688235	16688235	+	Silent	SNP	G	G	A	rs567636032		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688235G>A	ENST00000263390.3	-	3	668	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	CTD-3222D19.2_ENST00000409035.1_Silent_p.L144L|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	136					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCGGGCAGCCTCTGGAGG	0.711																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(406-408)Ctg>Ttg		mediator complex subunit 26							6.0	9.0	8.0					19																	16688235		2070	4030	6100	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688235G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.406C>T	19.37:g.16688235G>A						CTD-3222D19.2_ENST00000409035.1_Silent_p.L144L	p.L136L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	668	-			136					A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.406C>T	CCDS12347.1																																																																																				0.711	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		36	157	0	0	0	1	0	36	157				
LRRC25	126364	broad.mit.edu	37	19	18507051	18507051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507051G>A	ENST00000339007.3	-	1	1376	c.723C>T	c.(721-723)gaC>gaT	p.D241D	LRRC25_ENST00000595840.1_Silent_p.D241D	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	241						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGTTCTCATAGTCGGGAGTGG	0.602																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(721-723)gaC>gaT		leucine rich repeat containing 25							59.0	67.0	64.0					19																	18507051		2203	4300	6503	SO:0001819	synonymous_variant	126364					integral to membrane		g.chr19:18507051G>A	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.723C>T	19.37:g.18507051G>A						LRRC25_ENST00000595840.1_Silent_p.D241D	p.D241D	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	1376	-			241					Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	37	c.723C>T	CCDS12377.1																																																																																				0.602	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		93	409	0	0	0	1	0	93	409				
ZSCAN4	201516	broad.mit.edu	37	19	58190148	58190148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58190148G>T	ENST00000318203.5	+	5	1874	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	393					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACAGGAGAAAAGCCTTA	0.453																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(1177-1179)Gaa>Taa		zinc finger and SCAN domain containing 4							117.0	127.0	124.0					19																	58190148		2203	4300	6503	SO:0001587	stop_gained	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190148G>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1177G>T	19.37:g.58190148G>T	ENSP00000321963:p.Glu393*						p.E393*	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1874	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	393					Q3MIQ2	Nonsense_Mutation	SNP	ENST00000318203.5	37	c.1177G>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	44	10.753146	0.99461	.	.	ENSG00000180532	ENST00000318203	.	.	.	4.88	4.88	0.63580	.	0.441828	0.19597	N	0.110492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.1709	17.3303	0.87261	0.0:0.0:1.0:0.0	.	.	.	.	X	393	.	ENSP00000321963:E393X	E	+	1	0	ZSCAN4	62881960	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	3.907000	0.56348	2.699000	0.92147	0.650000	0.86243	GAA		0.453	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		140	650	1	0	5.13159e-70	1	6.51657e-70	140	650				
EMC1	23065	broad.mit.edu	37	1	19549260	19549260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19549260C>A	ENST00000477853.1	-	20	2487	c.2445G>T	c.(2443-2445)gaG>gaT	p.E815D	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.E793D|EMC1_ENST00000375199.3_Missense_Mutation_p.E814D|EMC1_ENST00000480380.1_5'Flank	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	815						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CGTTGTATTGCTCAGTGCCCT	0.602																																						ENST00000477853.1																			0											c.(2443-2445)gaG>gaT		ER membrane protein complex subunit 1							135.0	116.0	122.0					1																	19549260		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19549260C>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2445G>T	1.37:g.19549260C>A	ENSP00000420608:p.Glu815Asp					EMC1_ENST00000375208.3_Missense_Mutation_p.E793D|EMC1_ENST00000375199.3_Missense_Mutation_p.E814D|RP1-43E13.2_ENST00000437898.1_RNA	p.E815D	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					20	2487	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2445G>T	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.24|14.24	2.475737|2.475737	0.44044|0.44044	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208;ENST00000486405	.|T;T;T	.|0.26373	.|1.74;1.74;1.74	5.98|5.98	2.04|2.04	0.26737|0.26737	.|Domain of unknown function DUF1620 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30324|0.30324	0.0761|0.0761	L|L	0.33624|0.33624	1.015|1.015	0.80722|0.80722	D|D	1|1	.|P;B;D;D	.|0.71674	.|0.732;0.39;0.998;0.998	.|P;B;D;D	.|0.69654	.|0.561;0.439;0.941;0.965	T|T	0.06058|0.06058	-1.0848|-1.0848	5|10	.|0.14252	.|T	.|0.57	-33.9746|-33.9746	8.4811|8.4811	0.33043|0.33043	0.0:0.6276:0.0:0.3724|0.0:0.6276:0.0:0.3724	.|.	.|793;814;814;815	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	S|D	549|815;814;793;60	.|ENSP00000420608:E815D;ENSP00000364345:E814D;ENSP00000364354:E793D	.|ENSP00000364345:E814D	A|E	-|-	1|3	0|2	KIAA0090|KIAA0090	19421847|19421847	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.704000|0.704000	0.40688|0.40688	2.977000|2.977000	0.49297|0.49297	0.420000|0.420000	0.25954|0.25954	-0.136000|-0.136000	0.14681|0.14681	GCA|GAG		0.602	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		9	241	1	0	3.09899e-07	1	3.21319e-07	9	241				
DNAH10	196385	broad.mit.edu	37	12	124270422	124270422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124270422C>T	ENST00000409039.3	+	9	1202	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	393	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTCATGGAGCGCATCGCCTG	0.522																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1177-1179)Cgc>Tgc		dynein, axonemal, heavy chain 10							121.0	108.0	112.0					12																	124270422		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124270422C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1177C>T	12.37:g.124270422C>T	ENSP00000386770:p.Arg393Cys						p.R393C	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	9	1202	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		393			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.1177C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199323	0.79015	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.52	3.53	0.40419	Dynein heavy chain, domain-1 (1);	0.000000	0.56097	D	0.000025	T	0.76321	0.3971	M	0.90369	3.11	0.53688	D	0.999978	D	0.89917	1.0	D	0.81914	0.995	T	0.82989	-0.0183	10	0.87932	D	0	.	14.7437	0.69474	0.4336:0.5664:0.0:0.0	.	393	Q8IVF4	DYH10_HUMAN	C	393	ENSP00000386770:R393C	ENSP00000386770:R393C	R	+	1	0	DNAH10	122836375	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	2.448000	0.44926	1.397000	0.46682	0.561000	0.74099	CGC		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			70	305	0	0	0	1	0	70	305				
NRK	203447	broad.mit.edu	37	X	105179162	105179162	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105179162T>C	ENST00000243300.9	+	21	3803	c.3500T>C	c.(3499-3501)tTa>tCa	p.L1167S	NRK_ENST00000428173.2_Splice_Site_p.L1168S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1167					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCTTTGCAGTATACGCTGGA	0.388										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.e21-1		Nik related kinase							160.0	141.0	147.0					X																	105179162		1877	4089	5966	SO:0001630	splice_region_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105179162T>C	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3500-1T>C	X.37:g.105179162T>C		HNSCC(51;0.14)				NRK_ENST00000243300.9_Splice_Site_p.L1167_splice	p.L1168_splice			Q7Z2Y5	NRK_HUMAN			21	3806	+			1167					Q32ND6|Q5H9K2|Q6ZMP2	Splice_Site	SNP	ENST00000243300.9	37	c.3502_splice		.	.	.	.	.	.	.	.	.	.	T	5.042	0.193493	0.09599	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79554	-1.27;-1.28	4.78	2.34	0.29019	.	1.495940	0.04486	N	0.378660	T	0.63010	0.2475	N	0.17082	0.46	0.09310	N	0.999999	B;B	0.27882	0.06;0.192	B;B	0.18561	0.019;0.022	T	0.52741	-0.8535	9	.	.	.	.	1.8464	0.03160	0.28:0.1695:0.0:0.5505	.	835;1167	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	S	1167;1168	ENSP00000434830:L1167S;ENSP00000438378:L1168S	.	L	+	2	0	NRK	105065818	1.000000	0.71417	0.747000	0.31113	0.136000	0.21042	0.991000	0.29654	0.813000	0.34350	0.486000	0.48141	TTA		0.388	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	Missense_Mutation	6	307	0	0	0	1	0	6	307				
TARSL2	123283	broad.mit.edu	37	15	102252167	102252167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102252167G>A	ENST00000335968.3	-	5	944	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	243					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCTCCATGGCCTCCCCAAG	0.448																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(727-729)gCc>gTc		threonyl-tRNA synthetase-like 2							81.0	68.0	73.0					15																	102252167		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102252167G>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.728C>T	15.37:g.102252167G>A	ENSP00000338093:p.Ala243Val						p.A243V	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	944	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		243					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.728C>T	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472549	0.96274	.	.	ENSG00000185418	ENST00000335968;ENST00000539112	T;T	0.24538	1.85;1.85	5.38	5.38	0.77491	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.050606	0.85682	D	0.000000	T	0.54886	0.1886	M	0.93854	3.465	0.80722	D	1	P	0.51240	0.943	P	0.53224	0.721	T	0.68085	-0.5502	10	0.72032	D	0.01	-13.9248	16.6349	0.85050	0.0:0.0:1.0:0.0	.	243	A2RTX5	SYTC2_HUMAN	V	243	ENSP00000338093:A243V;ENSP00000439899:A243V	ENSP00000338093:A243V	A	-	2	0	TARSL2	100069690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.552000	0.98115	2.528000	0.85240	0.530000	0.56133	GCC		0.448	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		30	128	0	0	0	1	0	30	128				
MCM2	4171	broad.mit.edu	37	3	127318161	127318161	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127318161G>A	ENST00000265056.7	+	2	251	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	3	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TCTCTTGCAGGAATCATCGGA	0.572																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.e2-1		minichromosome maintenance complex component 2							156.0	168.0	164.0					3																	127318161		2203	4300	6503	SO:0001630	splice_region_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127318161G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.7-1G>A	3.37:g.127318161G>A							p.E3_splice	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			2	251	+			3			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Splice_Site	SNP	ENST00000265056.7	37	c.6_splice	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192676	0.78902	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02301	4.35	5.2	5.2	0.72013	.	1.521000	0.04101	N	0.312860	T	0.02649	0.0080	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52403	-0.8580	10	0.59425	D	0.04	-21.1968	15.9144	0.79500	0.0:0.0:1.0:0.0	.	3	P49736	MCM2_HUMAN	K	3	ENSP00000265056:E3K	ENSP00000265056:E3K	E	+	1	0	MCM2	128800851	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.119000	0.71590	2.417000	0.82017	0.585000	0.79938	GAA		0.572	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		Missense_Mutation	269	1188	0	0	0	1	0	269	1188				
GPKOW	27238	broad.mit.edu	37	X	48973491	48973491	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48973491A>C	ENST00000156109.5	-	6	884	c.806T>G	c.(805-807)gTt>gGt	p.V269G		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	269						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CATGGCCCGAACATTGTCAGG	0.552																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(805-807)gTt>gGt		G patch domain and KOW motifs							107.0	82.0	90.0					X																	48973491		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48973491A>C	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.806T>G	X.37:g.48973491A>C	ENSP00000156109:p.Val269Gly						p.V269G	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			6	884	-			269					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.806T>G	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	A	8.494	0.862683	0.17178	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	-0.978	0.10279	KOW (1);	0.400861	0.27181	N	0.020549	T	0.10035	0.0246	N	0.00729	-1.24	0.22552	N	0.998993	B	0.10296	0.003	B	0.14023	0.01	T	0.35176	-0.9799	9	0.22109	T	0.4	-3.7939	10.7501	0.46205	0.3003:0.0:0.6997:0.0	.	269	Q92917	GPKOW_HUMAN	G	269	.	ENSP00000156109:V269G	V	-	2	0	GPKOW	48860435	0.046000	0.20272	0.004000	0.12327	0.988000	0.76386	0.474000	0.22148	-0.121000	0.11787	0.483000	0.47432	GTT		0.552	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		59	212	0	0	0	1	0	59	212				
LRP1B	53353	broad.mit.edu	37	2	141986788	141986788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141986788C>T	ENST00000389484.3	-	6	1785	c.814G>A	c.(814-816)Gat>Aat	p.D272N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	272					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCATTCATCTGTTAATCCT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(814-816)Gat>Aat		low density lipoprotein receptor-related protein 1B							126.0	126.0	126.0					2																	141986788		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986788C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.814G>A	2.37:g.141986788C>T	ENSP00000374135:p.Asp272Asn	TSP Lung(27;0.18)					p.D272N	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	6	1785	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	272					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.814G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936743	0.73557	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90676	-2.71	5.2	4.31	0.51392	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.270481	0.30930	U	0.008597	D	0.83317	0.5228	L	0.29908	0.895	0.30447	N	0.775605	B	0.09022	0.002	B	0.06405	0.002	T	0.72676	-0.4221	10	0.13470	T	0.59	.	13.7859	0.63110	0.0:0.9233:0.0:0.0767	.	272	Q9NZR2	LRP1B_HUMAN	N	272;210	ENSP00000374135:D272N	ENSP00000374135:D272N	D	-	1	0	LRP1B	141703258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.482000	0.45224	2.440000	0.82611	0.585000	0.79938	GAT		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	362	0	0	0	1	0	12	362				
ZNF415	55786	broad.mit.edu	37	19	53612015	53612015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612015G>A	ENST00000500065.4	-	4	1616	c.1283C>T	c.(1282-1284)gCg>gTg	p.A428V	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000455735.2_Missense_Mutation_p.A476V|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCGATGACTCGCAAGGTGTGA	0.423																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1426-1428)gCg>gTg		zinc finger protein 415							121.0	117.0	118.0					19																	53612015		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612015G>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1283C>T	19.37:g.53612015G>A	ENSP00000439435:p.Ala428Val					ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.A428V|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V	p.A476V			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1747	-			476					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1427C>T	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	3.941	-0.014304	0.07681	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	2.77	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.11201	0.11	0.09310	N	1	B;P;P;B;P;P	0.51147	0.339;0.719;0.565;0.339;0.51;0.942	B;B;B;B;B;B	0.32393	0.008;0.094;0.019;0.008;0.015;0.145	T	0.42344	-0.9457	9	0.30078	T	0.28	.	3.1834	0.06592	0.3435:0.0:0.4691:0.1874	.	428;476;476;428;415;440	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	V	428;428;476;440;476;415	ENSP00000243643:A428V;ENSP00000439435:A428V;ENSP00000396492:A476V;ENSP00000395055:A440V;ENSP00000388787:A476V;ENSP00000414601:A415V	ENSP00000243643:A428V	A	-	2	0	ZNF415	58303827	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.307000	0.08167	-0.224000	0.09928	-0.350000	0.07774	GCG		0.423	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		116	470	0	0	0	1	0	116	470				
ZNF304	57343	broad.mit.edu	37	19	57868238	57868238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868238C>T	ENST00000282286.5	+	3	1174	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	ZNF304_ENST00000391705.3_Missense_Mutation_p.S334F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F|ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	334				S -> P (in Ref. 1; CAC06610). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAGAAAGATCTTATGACTGC	0.463																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(1000-1002)tCt>tTt		zinc finger protein 304							70.0	64.0	66.0					19																	57868238		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868238C>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1001C>T	19.37:g.57868238C>T	ENSP00000282286:p.Ser334Phe					ZNF304_ENST00000282286.5_Missense_Mutation_p.S334F|ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F	p.S334F	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1285	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	334	S -> P (in Ref. 1; CAC06610).					Missense_Mutation	SNP	ENST00000282286.5	37	c.1001C>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359686	0.41801	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15487	5.19;5.19;2.42	3.72	0.211	0.15236	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26955	0.0660	M	0.62016	1.91	0.09310	N	1	P;D	0.67145	0.94;0.996	P;P	0.57548	0.459;0.823	T	0.11203	-1.0597	9	0.87932	D	0	.	4.4656	0.11687	0.159:0.5608:0.0:0.2802	.	334;381	Q9HCX3;E7EQD3	ZN304_HUMAN;.	F	334;334;381	ENSP00000282286:S334F;ENSP00000375586:S334F;ENSP00000401642:S381F	ENSP00000282286:S334F	S	+	2	0	ZNF304	62560050	0.000000	0.05858	0.001000	0.08648	0.886000	0.51366	0.325000	0.19628	0.156000	0.19299	-0.225000	0.12378	TCT		0.463	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			54	252	0	0	0	1	0	54	252				
KIAA2022	340533	broad.mit.edu	37	X	73960434	73960434	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73960434A>C	ENST00000055682.6	-	3	4569	c.3958T>G	c.(3958-3960)Ttg>Gtg	p.L1320V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1320					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGTTGGACAAGATATAGGAA	0.527																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(3958-3960)Ttg>Gtg		KIAA2022							114.0	107.0	109.0					X																	73960434		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960434A>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3958T>G	X.37:g.73960434A>C	ENSP00000055682:p.Leu1320Val					KIAA2022_ENST00000055682.5_Missense_Mutation_p.L1320V	p.L1320V			Q5QGS0	K2022_HUMAN			3	4609	-			1320					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3958T>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672855	0.47781	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.42900	0.96;0.96	5.55	4.39	0.52855	.	0.078788	0.52532	D	0.000061	T	0.48187	0.1486	L	0.34521	1.04	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	T	0.50808	-0.8784	10	0.87932	D	0	-4.7705	6.1117	0.20104	0.7472:0.0:0.2528:0.0	.	1320	Q5QGS0	K2022_HUMAN	V	1320	ENSP00000362567:L1320V;ENSP00000055682:L1320V	ENSP00000055682:L1320V	L	-	1	2	KIAA2022	73877159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.035000	0.49759	1.853000	0.53794	0.441000	0.28932	TTG		0.527	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		105	324	0	0	0	1	0	105	324				
TSGA10	80705	broad.mit.edu	37	2	99681453	99681453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99681453C>A	ENST00000393483.3	-	16	2197	c.1353G>T	c.(1351-1353)gaG>gaT	p.E451D	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	451					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCTGTTACCCTCTGCCTCAG	0.373																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1351-1353)gaG>gaT		testis specific, 10							150.0	141.0	144.0					2																	99681453		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99681453C>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1353G>T	2.37:g.99681453C>A	ENSP00000377123:p.Glu451Asp					TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D	p.E451D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			16	2197	-			451					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1353G>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391315	0.62066	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46	5.3	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.24736	0.0600	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.02244	-1.1189	10	0.34782	T	0.22	-13.7504	8.0984	0.30842	0.0:0.8223:0.0:0.1777	.	451	Q9BZW7	TSG10_HUMAN	D	451	ENSP00000377123:E451D;ENSP00000386956:E451D;ENSP00000347161:E451D;ENSP00000444419:E451D;ENSP00000386508:E451D;ENSP00000377122:E451D	ENSP00000347161:E451D	E	-	3	2	TSGA10	99047885	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.021000	0.41020	1.476000	0.48215	0.585000	0.79938	GAG		0.373	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		71	346	1	0	5.62145e-24	1	6.41091e-24	71	346				
WDR48	57599	broad.mit.edu	37	3	39116241	39116241	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39116241A>G	ENST00000302313.5	+	8	725	c.697A>G	c.(697-699)Aca>Gca	p.T233A	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A|WDR48_ENST00000544962.1_Missense_Mutation_p.T25A	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	233					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTGATGGGACAATTCGCCT	0.483																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(697-699)Aca>Gca		WD repeat domain 48							129.0	108.0	115.0					3																	39116241		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39116241A>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.697A>G	3.37:g.39116241A>G	ENSP00000307491:p.Thr233Ala					WDR48_ENST00000544962.1_Missense_Mutation_p.T25A|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A	p.T233A	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	725	+			233					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.697A>G	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	34	5.361411	0.95877	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.69435	-0.4;1.94;-0.4	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	M	0.79475	2.455	0.80722	D	1	D;P;P;P	0.56035	0.974;0.63;0.825;0.791	D;B;B;B	0.67725	0.953;0.287;0.394;0.41	D	0.83733	0.0199	10	0.66056	D	0.02	1.7488	16.2644	0.82568	1.0:0.0:0.0:0.0	.	25;151;224;233	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	A	233;25;151	ENSP00000307491:T233A;ENSP00000445187:T25A;ENSP00000379557:T151A	ENSP00000307491:T233A	T	+	1	0	WDR48	39091245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.244000	0.73946	0.528000	0.53228	ACA		0.483	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		59	269	0	0	0	1	0	59	269				
C1QTNF7	114905	broad.mit.edu	37	4	15437372	15437372	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15437372T>G	ENST00000444304.2	+	2	331	c.5T>G	c.(4-6)tTt>tGt	p.F2C	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.F9C			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	2					protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCAAAGATGTTTGTCTTGCTC	0.448																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(25-27)tTt>tGt		C1q and tumor necrosis factor related protein 7							104.0	98.0	100.0					4																	15437372		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15437372T>G	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.5T>G	4.37:g.15437372T>G	ENSP00000388914:p.Phe2Cys					C1QTNF7_ENST00000444304.2_Missense_Mutation_p.F2C|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C	p.F9C	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			2	285	+			2					B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.26T>G	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219555	0.58560	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.91843	-2.92;-2.62;-2.79;-2.56;-2.56	5.54	5.54	0.83059	.	0.356883	0.33092	N	0.005299	D	0.86904	0.6045	N	0.24115	0.695	0.34774	D	0.733995	P	0.46277	0.875	B	0.40602	0.334	D	0.91376	0.5123	10	0.52906	T	0.07	.	15.9843	0.80138	0.0:0.0:0.0:1.0	.	2	Q9BXJ2	C1QT7_HUMAN	C	9;9;2;2;2	ENSP00000380812:F9C;ENSP00000295297:F9C;ENSP00000371820:F2C;ENSP00000410722:F2C;ENSP00000388914:F2C	ENSP00000295297:F9C	F	+	2	0	C1QTNF7	15046470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.025000	0.64097	2.228000	0.72767	0.533000	0.62120	TTT		0.448	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			16	296	0	0	0	1	0	16	296				
SERPINB8	5271	broad.mit.edu	37	18	61650907	61650907	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61650907G>A	ENST00000397985.2	+	5	775	c.519G>A	c.(517-519)gaG>gaA	p.E173E	SERPINB8_ENST00000397988.3_Silent_p.E173E|SERPINB8_ENST00000353706.2_Silent_p.E173E|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	173					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGTGGAATGAGCAATTTGACA	0.393																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(517-519)gaG>gaA		serpin peptidase inhibitor, clade B (ovalbumin), member 8							125.0	119.0	121.0					18																	61650907		2203	4300	6503	SO:0001819	synonymous_variant	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61650907G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.519G>A	18.37:g.61650907G>A						SERPINB8_ENST00000353706.2_Silent_p.E173E|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Silent_p.E173E	p.E173E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			5	775	+		Esophageal squamous(42;0.129)	173					B4DTW2|Q7Z2V6|Q8N178	Silent	SNP	ENST00000397985.2	37	c.519G>A	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	3.149	-0.174580	0.06421	.	.	ENSG00000166401	ENST00000295211	.	.	.	5.65	-4.13	0.03904	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.28004	-1.0057	4	.	.	.	.	3.1715	0.06554	0.4879:0.0866:0.2433:0.1823	.	.	.	.	N	115	.	.	S	+	2	0	SERPINB8	59801887	0.000000	0.05858	0.012000	0.15200	0.538000	0.34931	-2.035000	0.01423	-0.698000	0.05085	-0.137000	0.14449	AGC		0.393	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		88	404	0	0	0	1	0	88	404				
IARS	3376	broad.mit.edu	37	9	95014113	95014113	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95014113G>T	ENST00000375643.3	-	22	2550	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M	IARS_ENST00000375629.3_De_novo_Start_InFrame|IARS_ENST00000443024.2_Missense_Mutation_p.L762M|IARS_ENST00000447699.2_Missense_Mutation_p.L652M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	762					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAGAAAGCAGAACACTAAAC	0.418																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2284-2286)Ctg>Atg		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						162.0	140.0	147.0					9																	95014113		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95014113G>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2284C>A	9.37:g.95014113G>T	ENSP00000364794:p.Leu762Met					IARS_ENST00000447699.2_Missense_Mutation_p.L652M|IARS_ENST00000375629.3_De_novo_Start_InFrame|IARS_ENST00000443024.2_Missense_Mutation_p.L762M	p.L762M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			22	2550	-			762					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2284C>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009501	0.75046	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.20200	2.09;2.09;2.09	5.72	4.83	0.62350	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.59867	-0.7373	10	0.87932	D	0	-10.5957	11.8558	0.52437	0.1439:0.0:0.8561:0.0	.	762;607	P41252;Q6P0M4	SYIC_HUMAN;.	M	762;762;652;762	ENSP00000364794:L762M;ENSP00000406448:L762M;ENSP00000415020:L652M	ENSP00000364794:L762M	L	-	1	2	IARS	94053934	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	4.005000	0.57075	1.446000	0.47643	0.655000	0.94253	CTG		0.418	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		7	313	1	0	5.18039e-06	1	5.32547e-06	7	313				
ANPEP	290	broad.mit.edu	37	15	90342699	90342699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90342699C>A	ENST00000300060.6	-	13	2224	c.1911G>T	c.(1909-1911)gaG>gaT	p.E637D	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	637	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCCTCCAGTTCTCTTCGTCGT	0.577																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1909-1911)gaG>gaT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						137.0	124.0	128.0					15																	90342699		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90342699C>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1911G>T	15.37:g.90342699C>A	ENSP00000300060:p.Glu637Asp					ANPEP_ENST00000558177.1_5'UTR	p.E637D	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		13	2224	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		637			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1911G>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	2.615	-0.289855	0.05568	.	.	ENSG00000166825	ENST00000300060	T	0.29397	1.57	5.15	0.631	0.17699	.	1.719790	0.02482	N	0.088618	T	0.21227	0.0511	N	0.17631	0.505	0.21719	N	0.999573	B	0.06786	0.001	B	0.15052	0.012	T	0.20806	-1.0264	10	0.10377	T	0.69	.	10.3218	0.43771	0.0:0.5417:0.3197:0.1385	.	637	P15144	AMPN_HUMAN	D	637	ENSP00000300060:E637D	ENSP00000300060:E637D	E	-	3	2	ANPEP	88143703	0.000000	0.05858	0.287000	0.24848	0.281000	0.26958	-0.806000	0.04525	0.154000	0.19237	-0.256000	0.11100	GAG		0.577	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			14	337	1	0	4.3838e-07	1	4.54049e-07	14	337				
OR5D13	390142	broad.mit.edu	37	11	55541337	55541337	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55541337C>A	ENST00000361760.1	+	1	424	c.424C>A	c.(424-426)Ctc>Atc	p.L142I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTCTCAGAAGCTCTGTGCTCT	0.428																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(424-426)Ctc>Atc		olfactory receptor, family 5, subfamily D, member 13							216.0	216.0	216.0					11																	55541337		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541337C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.424C>A	11.37:g.55541337C>A	ENSP00000354800:p.Leu142Ile						p.L142I	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	424	+		all_epithelial(135;0.196)	142					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.424C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857061	0.32791	.	.	ENSG00000198877	ENST00000361760	T	0.00174	8.62	3.2	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.632696	0.12068	U	0.502545	T	0.00328	0.0010	M	0.63169	1.94	0.09310	N	1	B	0.31989	0.35	P	0.48524	0.58	T	0.22138	-1.0225	10	0.27082	T	0.32	-4.8549	9.2055	0.37287	0.0:0.8862:0.0:0.1138	.	142	Q8NGL4	OR5DD_HUMAN	I	142	ENSP00000354800:L142I	ENSP00000354800:L142I	L	+	1	0	OR5D13	55297913	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.974000	0.03794	0.714000	0.32081	0.409000	0.27619	CTC		0.428	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		160	786	1	0	1.34836e-70	1	1.71305e-70	160	786				
POLA2	23649	broad.mit.edu	37	11	65063055	65063055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65063055T>C	ENST00000265465.3	+	16	2036	c.1505T>C	c.(1504-1506)aTc>aCc	p.I502T	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.I294T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	502					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCAAGCACATCTTGACCCAG	0.488																																						ENST00000265465.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(1504-1506)aTc>aCc		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						87.0	81.0	83.0					11																	65063055		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65063055T>C	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1505T>C	11.37:g.65063055T>C	ENSP00000265465:p.Ile502Thr					POLA2_ENST00000541089.1_Missense_Mutation_p.I294T|POLA2_ENST00000534785.1_3'UTR	p.I502T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN			16	2036	+			502					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.1505T>C	CCDS8098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.091466|4.091466	0.76756|0.76756	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.37752|.	1.18;1.18|.	5.06|5.06	5.06|5.06	0.68205|0.68205	DNA polymerase alpha/epsilon, subunit B (1);|.	0.088707|.	0.85682|.	D|.	0.000000|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.83774|0.83774	2.66|2.66	0.52099|0.52099	D|D	0.999947|0.999947	P;P|.	0.42556|.	0.629;0.783|.	B;P|.	0.45577|.	0.405;0.486|.	T|T	0.78685|0.78685	-0.2108|-0.2108	10|5	0.72032|.	D|.	0.01|.	-24.0439|-24.0439	12.7672|12.7672	0.57399|0.57399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	294;502|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	T|P	502;294|172	ENSP00000265465:I502T;ENSP00000443222:I294T|.	ENSP00000265465:I502T|.	I|S	+|+	2|1	0|0	POLA2|POLA2	64819631|64819631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.680000|6.680000	0.74518|0.74518	1.911000|1.911000	0.55334|0.55334	0.379000|0.379000	0.24179|0.24179	ATC|TCT		0.488	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		67	324	0	0	0	1	0	67	324				
ILF3	3609	broad.mit.edu	37	19	10781680	10781680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10781680C>T	ENST00000590261.1	+	2	34	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000449870.1_Missense_Mutation_p.R12C|ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000407004.3_Missense_Mutation_p.R12C			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	12	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAATGATGACCGCCATGTGAT	0.468																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(34-36)Cgc>Tgc		interleukin enhancer binding factor 3, 90kDa							64.0	57.0	59.0					19																	10781680		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10781680C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.34C>T	19.37:g.10781680C>T	ENSP00000468156:p.Arg12Cys					ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000407004.3_Missense_Mutation_p.R12C|ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000590261.1_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C	p.R12C	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		3	351	+			12					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.34C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978781	0.92982	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.33	5.33	0.75918	.	0.055575	0.64402	D	0.000001	T	0.64800	0.2631	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.989;0.976;0.998;0.994;0.989	T	0.71133	-0.4681	10	0.87932	D	0	.	18.3088	0.90192	0.0:1.0:0.0:0.0	.	12;12;12;12;12	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	C	12	ENSP00000404121:R12C;ENSP00000315205:R12C;ENSP00000405436:R12C;ENSP00000384660:R12C;ENSP00000250241:R12C	ENSP00000250241:R12C	R	+	1	0	ILF3	10642680	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.459000	0.80802	2.932000	0.99384	0.643000	0.83706	CGC		0.468	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			23	102	0	0	0	1	0	23	102				
RNF20	56254	broad.mit.edu	37	9	104303164	104303164	+	Missense_Mutation	SNP	G	G	A	rs567126384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104303164G>A	ENST00000389120.3	+	5	625	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	179					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGAACGTGTGGAGTCTTCCCG	0.517																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(535-537)Gag>Aag		ring finger protein 20, E3 ubiquitin protein ligase							68.0	73.0	71.0					9																	104303164		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104303164G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.535G>A	9.37:g.104303164G>A	ENSP00000373772:p.Glu179Lys						p.E179K	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	5	625	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	179					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.535G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852273	0.71719	.	.	ENSG00000155827	ENST00000389120;ENST00000374819	T	0.79247	-1.25	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.68593	2.085	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.87856	0.2661	10	0.66056	D	0.02	-18.7071	17.0518	0.86521	0.0:0.0:1.0:0.0	.	179	Q5VTR2	BRE1A_HUMAN	K	179	ENSP00000373772:E179K	ENSP00000363952:E179K	E	+	1	0	RNF20	103342985	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.540000	0.82074	2.439000	0.82584	0.455000	0.32223	GAG		0.517	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		63	354	0	0	0	1	0	63	354				
SQSTM1	8878	broad.mit.edu	37	5	179260104	179260104	+	Missense_Mutation	SNP	C	C	A	rs202119215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260104C>A	ENST00000389805.4	+	6	1005	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	276	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGAGAGTTCCAGCACAGAG	0.602																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(826-828)tCc>tAc		sequestosome 1							49.0	52.0	51.0					5																	179260104		2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179260104C>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.827C>A	5.37:g.179260104C>A	ENSP00000374455:p.Ser276Tyr					SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y	p.S276Y	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1005	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	276			Interaction with NTRK1 (By similarity).|Ser-rich.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.827C>A	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486551	0.04352	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.82619	-1.63;-1.63;-1.63;2.36;-1.63	5.0	2.23	0.28157	.	1.296320	0.04736	N	0.421909	D	0.89911	0.6852	M	0.66939	2.045	0.37016	D	0.895976	P;D	0.65815	0.901;0.995	B;D	0.75484	0.444;0.986	T	0.77752	-0.2470	10	0.34782	T	0.22	-14.1846	10.3902	0.44164	0.0:0.7833:0.0:0.2167	.	276;276	Q13501;E7EMC7	SQSTM_HUMAN;.	Y	192;276;132;192;276;192	ENSP00000366128:S192Y;ENSP00000374455:S276Y;ENSP00000385553:S192Y;ENSP00000424477:S276Y;ENSP00000353944:S192Y	ENSP00000353944:S192Y	S	+	2	0	SQSTM1	179192710	0.034000	0.19679	0.125000	0.21846	0.141000	0.21300	2.889000	0.48601	0.233000	0.21120	-0.424000	0.05967	TCC		0.602	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			66	190	1	0	7.46257e-40	1	9.03299e-40	66	190				
AOC4P	90586	broad.mit.edu	37	17	41020660	41020660	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41020660G>A	ENST00000585538.1	+	0	1499					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		GGGGCCTTGCGGAAACGGTGC	0.507																																						ENST00000585538.1																			0																																																			0							g.chr17:41020660G>A			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41020660G>A								NR_002773.1						0	1499	+									RNA	SNP	ENST00000585538.1	37																																																																																						0.507	AOC4P-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000452449.1			39	154	0	0	0	1	0	39	154				
DENND4B	9909	broad.mit.edu	37	1	153903514	153903514	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903514A>G	ENST00000361217.4	-	25	4441	c.4023T>C	c.(4021-4023)gaT>gaC	p.D1341D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1341					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGGCTGGATCAGGGGTTA	0.572																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(4021-4023)gaT>gaC		DENN/MADD domain containing 4B							28.0	31.0	30.0					1																	153903514		1995	4165	6160	SO:0001819	synonymous_variant	9909							g.chr1:153903514A>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4023T>C	1.37:g.153903514A>G						DENND4B_ENST00000474386.1_5'UTR	p.D1341D	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		25	4441	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1341					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.4023T>C	CCDS44228.1																																																																																				0.572	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		11	85	0	0	0	1	0	11	85				
SLC36A2	153201	broad.mit.edu	37	5	150726957	150726957	+	Missense_Mutation	SNP	G	G	A	rs539289088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150726957G>A	ENST00000335244.4	-	1	194	c.65C>T	c.(64-66)tCg>tTg	p.S22L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	22					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TTCAGGAGGCGACATAAGGTC	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		20769	0.0		0.0	False		,,,				2504	0.002					ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(64-66)tCg>tTg		solute carrier family 36 (proton/amino acid symporter), member 2							215.0	210.0	212.0					5																	150726957		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150726957G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.65C>T	5.37:g.150726957G>A	ENSP00000334223:p.Ser22Leu					SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	p.S22L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	194	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	22					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.65C>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885151	0.33255	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10099	3.73;2.91	5.0	2.2	0.27929	.	0.695646	0.13942	N	0.352155	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	D;P;B	0.54772	0.968;0.553;0.211	B;B;B	0.33339	0.162;0.118;0.037	T	0.37663	-0.9696	10	0.34782	T	0.22	-0.4317	3.6879	0.08335	0.0901:0.1665:0.5709:0.1725	.	22;22;22	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	L	22	ENSP00000334223:S22L;ENSP00000430535:S22L	ENSP00000334223:S22L	S	-	2	0	SLC36A2	150707150	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.591000	0.23969	0.362000	0.24319	0.655000	0.94253	TCG		0.488	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			112	986	0	0	0	1	0	112	986				
PNMAL2	57469	broad.mit.edu	37	19	46998367	46998367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998367G>A	ENST00000377655.2	-	1	355	c.356C>T	c.(355-357)gCg>gTg	p.A119V	AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.A119V			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	119										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCAGCCTCCGCGGCCTGCGT	0.692																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(355-357)gCg>gTg		paraneoplastic Ma antigen family-like 2							56.0	62.0	60.0					19																	46998367		2203	4299	6502	SO:0001583	missense	57469							g.chr19:46998367G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.356C>T	19.37:g.46998367G>A	ENSP00000366883:p.Ala119Val					PNMAL2_ENST00000377655.2_Missense_Mutation_p.A119V|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T|PNMAL2_ENST00000594749.1_Intron	p.A119V	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1388	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	119					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.356C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.640729|1.640729	0.29157|0.29157	.|.	.|.	ENSG00000204850|ENSG00000204851	ENST00000377652|ENST00000377655	.|T	.|0.10005	.|2.92	1.55|1.55	0.391|0.391	0.16282|0.16282	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|P	0.54601|0.44478	0.967|0.836	B|B	0.31016|0.26310	0.123|0.068	T|T	0.38650|0.38650	-0.9651|-0.9651	8|9	0.87932|0.59425	D|D	0|0.04	-5.9318|-5.9318	4.7488|4.7488	0.13050|0.13050	0.0:0.0:0.5568:0.4432|0.0:0.0:0.5568:0.4432	.|.	160|119	Q6ZVU4|Q9ULN7	.|PNML2_HUMAN	T|V	160|119	.|ENSP00000366883:A119V	ENSP00000366880:A160T|ENSP00000366883:A119V	A|A	+|-	1|2	0|0	AC011484.1|PNMAL2	51690207|51690207	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	0.596000|0.596000	0.24044|0.24044	0.136000|0.136000	0.18733|0.18733	0.462000|0.462000	0.41574|0.41574	GCG|GCG		0.692	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		157	590	0	0	0	1	0	157	590				
ZNF300	91975	broad.mit.edu	37	5	150276091	150276091	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150276091C>A	ENST00000274599.5	-	6	1130	c.710G>T	c.(709-711)gGa>gTa	p.G237V	ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V|ZNF300_ENST00000446148.2_Missense_Mutation_p.G253V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTATTACTCCATTGTGAAT	0.343																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(757-759)gGa>gTa		zinc finger protein 300							87.0	92.0	90.0					5																	150276091		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276091C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.710G>T	5.37:g.150276091C>A	ENSP00000274599:p.Gly237Val					ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V|ZNF300_ENST00000274599.5_Missense_Mutation_p.G237V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V	p.G253V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1185	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	237	T -> I (in Ref. 7; CAI46270).				A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.758G>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861304	0.32884	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08458	3.17;3.17;3.09;3.17	3.04	2.16	0.27623	.	.	.	.	.	T	0.16041	0.0386	L	0.46157	1.445	0.33494	D	0.589114	D	0.60575	0.988	P	0.59825	0.864	T	0.18840	-1.0324	9	0.87932	D	0	.	8.4296	0.32750	0.0:0.8766:0.0:0.1234	.	237	Q96RE9	ZN300_HUMAN	V	253;237;201;237	ENSP00000397178:G253V;ENSP00000274599:G237V;ENSP00000392593:G201V;ENSP00000377773:G237V	ENSP00000274599:G237V	G	-	2	0	ZNF300	150256284	0.000000	0.05858	0.344000	0.25628	0.607000	0.37147	0.109000	0.15417	0.849000	0.35215	0.557000	0.71058	GGA		0.343	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		115	459	1	0	2.42198e-52	1	3.01187e-52	115	459				
CHD5	26038	broad.mit.edu	37	1	6202222	6202222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6202222G>A	ENST00000262450.3	-	15	2501	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCCGAATGGCGTTGTCCTC	0.577																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2401-2403)gCc>gTc		chromodomain helicase DNA binding protein 5							169.0	158.0	162.0					1																	6202222		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202222G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2402C>T	1.37:g.6202222G>A	ENSP00000262450:p.Ala801Val					CHD5_ENST00000378021.1_5'UTR	p.A801V	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	15	2501	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	801			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2402C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955651	0.92726	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.90900	-2.75	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.073472	0.53938	D	0.000051	D	0.92770	0.7701	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93421	0.6777	10	0.54805	T	0.06	-22.6321	16.6218	0.84932	0.0:0.0:1.0:0.0	.	801	Q8TDI0	CHD5_HUMAN	V	801;317;209;209	ENSP00000262450:A801V	ENSP00000262450:A801V	A	-	2	0	CHD5	6124809	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.843000	0.86859	1.977000	0.57605	0.561000	0.74099	GCC		0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		94	873	0	0	0	1	0	94	873				
NPR2	4882	broad.mit.edu	37	9	35792966	35792966	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35792966C>A	ENST00000342694.2	+	1	816	c.561C>A	c.(559-561)gtC>gtA	p.V187V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	187					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCGAGGGCGTCTTTGAGGCCC	0.627																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(559-561)gtC>gtA		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						65.0	62.0	63.0					9																	35792966		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35792966C>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.561C>A	9.37:g.35792966C>A							p.V187V	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		1	816	+	all_epithelial(49;0.161)		187					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.561C>A	CCDS6590.1																																																																																				0.627	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			21	414	1	0	9.95505e-16	1	1.08957e-15	21	414				
ZNF490	57474	broad.mit.edu	37	19	12692016	12692016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12692016C>A	ENST00000311437.6	-	5	995	c.873G>T	c.(871-873)caG>caT	p.Q291H	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTAGAAAAGGCTGGTAATATA	0.428																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(871-873)caG>caT		zinc finger protein 490							79.0	78.0	78.0					19																	12692016		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12692016C>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.873G>T	19.37:g.12692016C>A	ENSP00000311521:p.Gln291His						p.Q291H	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			5	995	-			291						Missense_Mutation	SNP	ENST00000311437.6	37	c.873G>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	4.383	0.070744	0.08436	.	.	ENSG00000188033	ENST00000311437	T	0.08984	3.03	0.996	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.12887	0.27	0.09310	N	1	P	0.47034	0.889	B	0.40565	0.333	T	0.25779	-1.0122	9	0.87932	D	0	.	2.6343	0.04953	0.2996:0.2591:0.0:0.4413	.	291	Q9ULM2	ZN490_HUMAN	H	291	ENSP00000311521:Q291H	ENSP00000311521:Q291H	Q	-	3	2	ZNF490	12553016	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-6.240000	0.00074	-1.451000	0.01933	-0.339000	0.08088	CAG		0.428	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		74	357	1	0	1.92445e-52	1	2.39376e-52	74	357				
MAEA	10296	broad.mit.edu	37	4	1305803	1305803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1305803G>A	ENST00000303400.4	+	2	169	c.106G>A	c.(106-108)Gct>Act	p.A36T	MAEA_ENST00000452175.2_Missense_Mutation_p.A25T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000510794.1_Missense_Mutation_p.A35T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	36	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A36T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CTTTCGCGCCGCTCAGAAGAA	0.642																																						ENST00000303400.4																			1	Substitution - Missense(1)	p.A36T(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(106-108)Gct>Act		macrophage erythroblast attacher							71.0	57.0	62.0					4																	1305803		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1305803G>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.106G>A	4.37:g.1305803G>A	ENSP00000302830:p.Ala36Thr					MAEA_ENST00000510794.1_Missense_Mutation_p.A35T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000452175.2_Missense_Mutation_p.A25T	p.A36T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		2	169	+			36			Extracellular and involved in cell to cell contact.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.106G>A	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657007	0.88154	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794	T;T;T;T;T;T;T;T	0.49432	0.87;0.86;0.81;0.86;0.78;0.8;0.84;0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.81614	2.55	0.48696	D	0.99969	P;D;P;P;D;B	0.58268	0.918;0.971;0.914;0.474;0.982;0.41	B;P;P;B;P;B	0.52627	0.391;0.459;0.596;0.126;0.704;0.115	T	0.61491	-0.7052	10	0.30078	T	0.28	-5.4561	20.3775	0.98923	0.0:0.0:1.0:0.0	.	35;36;36;36;36;36	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	T	36;36;36;36;36;36;36;25;36;35	ENSP00000302830:A36T;ENSP00000422215:A36T;ENSP00000421644:A36T;ENSP00000264750:A36T;ENSP00000426903:A36T;ENSP00000411415:A25T;ENSP00000427512:A36T;ENSP00000426807:A35T	ENSP00000264750:A36T	A	+	1	0	MAEA	1295803	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	9.479000	0.97929	2.819000	0.97034	0.655000	0.94253	GCT		0.642	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		52	228	0	0	0	1	0	52	228				
MCF2L	23263	broad.mit.edu	37	13	113634067	113634067	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113634067G>T	ENST00000375608.3	+	3	227				MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000421756.1_Missense_Mutation_p.R29M|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Missense_Mutation_p.R29M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGCGCTCGAGGCCAGGTGAG	0.677																																						ENST00000375601.3																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(85-87)aGg>aTg		MCF.2 cell line derived transforming sequence-like							20.0	26.0	24.0					13																	113634067		1567	3581	5148	SO:0001627	intron_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113634067G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.170-35010G>T	13.37:g.113634067G>T						MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000421756.1_Missense_Mutation_p.R29M|MCF2L_ENST00000535094.2_Intron	p.R29M			O15068	MCF2L_HUMAN			1	413	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	0					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.86G>T		.	.	.	.	.	.	.	.	.	.	G	9.384	1.073736	0.20147	.	.	ENSG00000126217	ENST00000421756;ENST00000375601	T;T	0.35973	1.33;1.28	3.45	-1.86	0.07760	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30794	-0.9966	6	0.48119	T	0.1	.	0.3721	0.00381	0.3585:0.2131:0.2461:0.1822	.	.	.	.	M	29	ENSP00000397285:R29M;ENSP00000364751:R29M	ENSP00000364751:R29M	R	+	2	0	MCF2L	112682068	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.069000	0.11542	-0.348000	0.08286	-0.362000	0.07510	AGG		0.677	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			40	113	1	0	1.96642e-18	1	2.182e-18	40	113				
HOXB3	3213	broad.mit.edu	37	17	46629754	46629754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46629754C>A	ENST00000470495.1	-	1	1530	c.83G>T	c.(82-84)gGc>gTc	p.G28V	HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Intron|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB3_ENST00000460160.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron			P14651	HXB3_HUMAN	homeobox B3	28					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GACATCGAAGCCGAAGCCATT	0.652																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(82-84)gGc>gTc		homeobox B3							35.0	42.0	39.0					17																	46629754		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629754C>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.83G>T	17.37:g.46629754C>A	ENSP00000417207:p.Gly28Val					HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000485909.2_Intron	p.G28V			P14651	HXB3_HUMAN			1	1530	-			28					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.83G>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301237	0.40694	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	3.94	2.95	0.34219	.	0.123452	0.53938	U	0.000054	D	0.92410	0.7591	L	0.56340	1.77	0.80722	D	1	D	0.58268	0.982	P	0.53450	0.726	D	0.92047	0.5645	10	0.52906	T	0.07	.	13.8671	0.63594	0.0:0.8458:0.1542:0.0	.	28	P14651	HXB3_HUMAN	V	28	ENSP00000417207:G28V;ENSP00000308252:G28V;ENSP00000420595:G28V;ENSP00000418892:G28V	ENSP00000308252:G28V	G	-	2	0	HOXB3	43984753	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.313000	0.59160	0.986000	0.38683	-0.304000	0.09214	GGC		0.652	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			44	262	1	0	1.89013e-27	1	2.18868e-27	44	262				
SKIL	6498	broad.mit.edu	37	3	170108126	170108126	+	Silent	SNP	G	G	A	rs375044899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170108126G>A	ENST00000458537.3	+	4	2254	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SKIL_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000426052.2_Silent_p.P495P|SKIL_ENST00000413427.2_Silent_p.P469P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	515					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTCATCTCCGCTTCTTGTGA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17784	0.0		0.0	False		,,,				2504	0.0					ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(1543-1545)ccG>ccA		SKI-like oncogene		G	,,	4,4402	8.1+/-20.4	0,4,2199	116.0	107.0	110.0		1407,1485,1545	-4.3	0.2	3		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SKIL	NM_001145097.1,NM_001145098.1,NM_005414.3	,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,	469/639,495/665,515/685	170108126	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170108126G>A	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1545G>A	3.37:g.170108126G>A						SKIL_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000426052.2_Silent_p.P495P|SKIL_ENST00000413427.2_Silent_p.P469P	p.P515P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		4	2254	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		515					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.1545G>A	CCDS33890.1																																																																																				0.363	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		18	482	0	0	0	1	0	18	482				
C7orf43	55262	broad.mit.edu	37	7	99754543	99754543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754543C>T	ENST00000316937.3	-	6	1103	c.918G>A	c.(916-918)ccG>ccA	p.P306P	C7orf43_ENST00000457641.1_Silent_p.P37P|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000419841.1_Silent_p.P74P|C7orf43_ENST00000498638.1_5'UTR|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	306										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCATTCAGCGGGCAGGGGA	0.612																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(916-918)ccG>ccA		chromosome 7 open reading frame 43							56.0	67.0	63.0					7																	99754543		2203	4300	6503	SO:0001819	synonymous_variant	55262							g.chr7:99754543C>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.918G>A	7.37:g.99754543C>T						C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.P37P|C7orf43_ENST00000419841.1_Silent_p.P74P	p.P306P	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			6	1103	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		306					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	c.918G>A	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965655	0.18583	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.58	-8.24	0.01029	.	.	.	.	.	T	0.47322	0.1439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55560	-0.8122	4	.	.	.	-6.2269	8.0696	0.30680	0.2449:0.5458:0.0:0.2093	.	.	.	.	T	212	.	.	A	-	1	0	C7orf43	99592479	0.002000	0.14202	0.911000	0.35937	0.837000	0.47467	-1.707000	0.01893	-0.841000	0.04200	-0.487000	0.04747	GCT		0.612	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		18	511	0	0	0	1	0	18	511				
RPAP3	79657	broad.mit.edu	37	12	48073291	48073291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48073291C>T	ENST00000005386.3	-	12	1387	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_ENST00000380650.4_Intron|RPAP3_ENST00000432584.3_Silent_p.P265P	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	424										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATCCAGGATGCGGTGGATTAT	0.323																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1270-1272)ccG>ccA		RNA polymerase II associated protein 3							99.0	91.0	94.0					12																	48073291		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48073291C>T	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1272G>A	12.37:g.48073291C>T						RPAP3_ENST00000432584.3_Silent_p.P265P|RPAP3_ENST00000380650.4_Intron	p.P424P	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			12	1387	-	Lung SC(27;0.192)		424					B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	c.1272G>A	CCDS8753.1																																																																																				0.323	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		30	153	0	0	0	1	0	30	153				
AMPH	273	broad.mit.edu	37	7	38502604	38502604	+	Missense_Mutation	SNP	C	C	T	rs368302578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38502604C>T	ENST00000356264.2	-	10	1074	c.859G>A	c.(859-861)Gca>Aca	p.A287T	AMPH_ENST00000325590.5_Missense_Mutation_p.A287T|AMPH_ENST00000428293.2_Missense_Mutation_p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	287					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.A287T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CGTGCTGGTGCGGGAGACGCA	0.547																																						ENST00000356264.2																			1	Substitution - Missense(1)	p.A287T(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(859-861)Gca>Aca		amphiphysin		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	160.0	150.0	153.0		859,859	5.3	1.0	7		153	0,8600		0,0,4300	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/696,287/654	38502604	1,13005	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38502604C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.859G>A	7.37:g.38502604C>T	ENSP00000348602:p.Ala287Thr					AMPH_ENST00000325590.5_Missense_Mutation_p.A287T|AMPH_ENST00000428293.2_Missense_Mutation_p.A287T	p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			10	1074	-			287					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.859G>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.284931|4.284931	0.80803|0.80803	2.27E-4|2.27E-4	0.0|0.0	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	0.051594|.	0.85682|.	D|.	0.000000|.	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.54323|0.54323	1.7|1.7	0.50313|0.50313	D|D	0.999864|0.999864	D;D;P|.	0.89917|.	1.0;1.0;0.887|.	D;D;B|.	0.65684|.	0.937;0.91;0.116|.	T|T	0.67405|0.67405	-0.5679|-0.5679	10|5	0.23891|.	T|.	0.37|.	-16.4707|-16.4707	15.5723|15.5723	0.76349|0.76349	0.0:0.9345:0.0:0.0655|0.0:0.9345:0.0:0.0655	.|.	287;287;43|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	T|H	287;287;287;57;290|37	ENSP00000317441:A287T;ENSP00000348602:A287T;ENSP00000390734:A287T|.	ENSP00000317441:A287T|.	A|R	-|-	1|2	0|0	AMPH|AMPH	38469129|38469129	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.591000|0.591000	0.36615|0.36615	6.321000|6.321000	0.72881|0.72881	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.547	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		104	457	0	0	0	1	0	104	457				
PCDHB14	56122	broad.mit.edu	37	5	140604406	140604406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604406C>T	ENST00000239449.4	+	1	1329	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	PCDHB14_ENST00000515856.2_Silent_p.D290D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTCTGACGTCAATGACA	0.582																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1327-1329)gaC>gaT									155.0	148.0	150.0					5																	140604406		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604406C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1329C>T	5.37:g.140604406C>T						PCDHB14_ENST00000515856.2_Silent_p.D290D	p.D443D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1329	+			443			Cadherin 4.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1329C>T	CCDS4256.1																																																																																				0.582	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		255	955	0	0	0	1	0	255	955				
ZBTB4	57659	broad.mit.edu	37	17	7367040	7367040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7367040G>A	ENST00000311403.4	-	4	1600	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	421					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTGGCTGCCCGCATGGGGAGC	0.632																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1261-1263)Cgg>Tgg		zinc finger and BTB domain containing 4							82.0	91.0	88.0					17																	7367040		2203	4300	6503	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7367040G>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1261C>T	17.37:g.7367040G>A	ENSP00000307858:p.Arg421Trp					ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	p.R421W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	1600	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	421					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1261C>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370297	0.61624	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04502	3.61;3.61	4.92	2.78	0.32641	.	0.169883	0.38897	N	0.001539	T	0.10551	0.0258	L	0.27053	0.805	0.39854	D	0.973289	D	0.89917	1.0	D	0.79108	0.992	T	0.11616	-1.0580	10	0.87932	D	0	-14.3833	11.3811	0.49757	0.0:0.0:0.6748:0.3252	.	421	Q9P1Z0	ZBTB4_HUMAN	W	421	ENSP00000307858:R421W;ENSP00000369973:R421W	ENSP00000307858:R421W	R	-	1	2	ZBTB4	7307764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.996000	0.40776	1.274000	0.44362	0.456000	0.33151	CGG		0.632	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		138	589	0	0	0	1	0	138	589				
ZSCAN12	9753	broad.mit.edu	37	6	28358503	28358503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28358503C>T	ENST00000361028.1	-	4	1709	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E522K			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	522					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						TAGGGCCTCTCTCCAGTGTGG	0.493																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(1564-1566)Gag>Aag		zinc finger and SCAN domain containing 12							97.0	85.0	89.0					6																	28358503		692	1591	2283	SO:0001583	missense	9753							g.chr6:28358503C>T	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.1564G>A	6.37:g.28358503C>T	ENSP00000354305:p.Glu522Lys					ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E522K	p.E522K							4	1709	-								O43724	Missense_Mutation	SNP	ENST00000361028.1	37	c.1564G>A		.	.	.	.	.	.	.	.	.	.	C	16.40	3.113579	0.56398	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.24350	1.86;1.86	3.73	2.84	0.33178	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33059	0.0850	M	0.66560	2.04	0.32789	N	0.50141	D;P	0.76494	0.999;0.953	D;P	0.81914	0.995;0.809	T	0.18555	-1.0333	9	0.62326	D	0.03	.	10.4799	0.44687	0.0:0.8984:0.0:0.1016	.	522;522	A8K187;O43309	.;ZSC12_HUMAN	K	522	ENSP00000354305:E522K;ENSP00000380039:E522K	ENSP00000354305:E522K	E	-	1	0	ZSCAN12	28466482	0.980000	0.34600	0.997000	0.53966	0.985000	0.73830	2.536000	0.45693	0.737000	0.32582	0.650000	0.86243	GAG		0.493	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		9	73	0	0	0	1	0	9	73				
ADCY3	109	broad.mit.edu	37	2	25046192	25046192	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25046192T>C	ENST00000260600.5	-	17	3620	c.2769A>G	c.(2767-2769)ggA>ggG	p.G923G	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Silent_p.G510G	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	923					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAAACATGACTCCAATCTCAT	0.468																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2767-2769)ggA>ggG		adenylate cyclase 3							148.0	113.0	125.0					2																	25046192		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25046192T>C	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2769A>G	2.37:g.25046192T>C						ADCY3_ENST00000405392.1_Silent_p.G510G	p.G923G	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			17	3620	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		923					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.2769A>G	CCDS1715.1																																																																																				0.468	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			21	225	0	0	0	1	0	21	225				
OR10S1	219873	broad.mit.edu	37	11	123847714	123847714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847714C>T	ENST00000531945.1	-	1	774	c.685G>A	c.(685-687)Gtt>Att	p.V229I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V229I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGGAAATAACGATGAGGATG	0.592																																						ENST00000531945.1																			1	Substitution - Missense(1)	p.V229I(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(685-687)Gtt>Att		olfactory receptor, family 10, subfamily S, member 1							53.0	48.0	50.0					11																	123847714		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847714C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.685G>A	11.37:g.123847714C>T	ENSP00000431914:p.Val229Ile						p.V229I	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	774	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	229					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.685G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.756	-0.771154	0.02974	.	.	ENSG00000196248	ENST00000531945	T	0.00256	8.42	4.85	-9.7	0.00521	GPCR, rhodopsin-like superfamily (1);	1.014880	0.07935	N	0.978190	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.35671	T	0.21	-8.6411	10.3645	0.44015	0.0677:0.1727:0.0824:0.6771	.	229	Q8NGN2	O10S1_HUMAN	I	229	ENSP00000431914:V229I	ENSP00000431914:V229I	V	-	1	0	OR10S1	123352924	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.012000	0.00160	-3.372000	0.00177	-2.983000	0.00079	GTT		0.592	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		75	298	0	0	0	1	0	75	298				
PRSS12	8492	broad.mit.edu	37	4	119234403	119234403	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119234403A>G	ENST00000296498.3	-	7	1724	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	481	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGCAATGCTAACATCTTCGCG	0.547																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1441-1443)gTt>gCt		protease, serine, 12 (neurotrypsin, motopsin)							99.0	80.0	87.0					4																	119234403		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119234403A>G	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1442T>C	4.37:g.119234403A>G	ENSP00000296498:p.Val481Ala						p.V481A	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			7	1724	-			481			SRCR 3.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1442T>C	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.389899	0.25118	.	.	ENSG00000164099	ENST00000296498	T	0.32272	1.46	5.92	4.75	0.60458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.164162	0.53938	N	0.000056	T	0.31638	0.0803	N	0.17872	0.535	0.44424	D	0.997348	D	0.53462	0.96	P	0.57152	0.814	T	0.03374	-1.1043	10	0.22109	T	0.4	.	11.9127	0.52747	0.9322:0.0:0.0678:0.0	.	481	P56730	NETR_HUMAN	A	481	ENSP00000296498:V481A	ENSP00000296498:V481A	V	-	2	0	PRSS12	119453851	0.994000	0.37717	0.205000	0.23548	0.554000	0.35429	6.231000	0.72307	1.061000	0.40601	0.528000	0.53228	GTT		0.547	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			38	211	0	0	0	1	0	38	211				
PCDHA5	56143	broad.mit.edu	37	5	140203604	140203604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140203604G>A	ENST00000529859.1	+	1	2244	c.2244G>A	c.(2242-2244)tcG>tcA	p.S748S	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	748					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S748S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCGTACTCGCAGC	0.647																																						ENST00000529859.1																			2	Substitution - coding silent(2)	p.S748S(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(2242-2244)tcG>tcA									72.0	65.0	67.0					5																	140203604		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140203604G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2244G>A	5.37:g.140203604G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.S748S	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2244	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2244G>A	CCDS54917.1																																																																																				0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		68	254	0	0	0	1	0	68	254				
PTPRB	5787	broad.mit.edu	37	12	70986112	70986112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986112C>A	ENST00000261266.5	-	5	1105	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I|PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I|PTPRB_ENST00000334414.6_Missense_Mutation_p.S577I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	359	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGACACAGCTGACAGTAAC	0.463																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1729-1731)aGc>aTc		protein tyrosine phosphatase, receptor type, B							99.0	97.0	98.0					12																	70986112		1963	4151	6114	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70986112C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1076G>T	12.37:g.70986112C>A	ENSP00000261266:p.Ser359Ile					PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000261266.5_Missense_Mutation_p.S359I|PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I	p.S577I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		7	1774	-	Renal(347;0.236)		359			Fibronectin type-III 7.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1730G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608439	0.46527	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.75	2.7	0.31948	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549706	0.21306	N	0.076726	T	0.58452	0.2123	L	0.43646	1.37	0.20975	N	0.999811	P;P;P;D;P;P;P;P	0.63880	0.567;0.567;0.666;0.993;0.7;0.567;0.621;0.658	P;P;P;P;P;P;P;P	0.62740	0.481;0.481;0.772;0.906;0.586;0.481;0.493;0.578	T	0.51293	-0.8724	10	0.22109	T	0.4	.	12.6582	0.56799	0.0:0.7041:0.2297:0.0662	.	359;359;456;577;576;577;359;577	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	I	577;359;577;577;359;359;359;576;456	ENSP00000334928:S577I;ENSP00000393028:S359I;ENSP00000448058:S577I;ENSP00000438927:S359I;ENSP00000447302:S359I;ENSP00000261266:S359I;ENSP00000448349:S576I;ENSP00000446982:S456I	ENSP00000261266:S359I	S	-	2	0	PTPRB	69272379	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	2.376000	0.44292	0.771000	0.33359	0.655000	0.94253	AGC		0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			69	336	1	0	1.63498e-16	1	1.79634e-16	69	336				
CEP131	22994	broad.mit.edu	37	17	79181033	79181033	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79181033C>T	ENST00000269392.4	-	4	526	c.279G>A	c.(277-279)acG>acA	p.T93T	AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000450824.2_Silent_p.T93T|AZI1_ENST00000575907.1_Silent_p.T93T	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		93					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGTGGGCTCCGTTGGCCTGC	0.647																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(277-279)acG>acA		5-azacytidine induced 1							49.0	47.0	48.0					17																	79181033		2203	4300	6503	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79181033C>T																												ENST00000269392.4:c.279G>A	17.37:g.79181033C>T						AZI1_ENST00000450824.2_Silent_p.T93T|AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000575907.1_Silent_p.T93T	p.T93T	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		4	526	-	all_neural(118;0.0804)|Melanoma(429;0.242)		93					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.279G>A																																																																																					0.647	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			39	171	0	0	0	1	0	39	171				
CHCHD3	54927	broad.mit.edu	37	7	132481280	132481280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132481280G>A	ENST00000262570.5	-	7	727	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	195	CHCH.				inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTGTTCTCACGGTAACACTGA	0.517																																						ENST00000262570.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(583-585)Cgt>Tgt		coiled-coil-helix-coiled-coil-helix domain containing 3							143.0	120.0	128.0					7																	132481280		2203	4300	6503	SO:0001583	missense	54927				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	g.chr7:132481280G>A	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.583C>T	7.37:g.132481280G>A	ENSP00000262570:p.Arg195Cys					CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C|CHCHD3_ENST00000476546.1_5'UTR	p.R195C	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN			7	727	-			195			CHCH.			Missense_Mutation	SNP	ENST00000262570.5	37	c.583C>T	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852934	0.32699	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.52057	0.69;0.68	5.81	5.81	0.92471	.	0.141061	0.64402	D	0.000004	T	0.60090	0.2242	L	0.56199	1.76	0.80722	D	1	D;B	0.89917	1.0;0.011	P;B	0.54706	0.759;0.004	T	0.58945	-0.7546	10	0.52906	T	0.07	-7.3234	19.6745	0.95926	0.0:0.0:1.0:0.0	.	200;195	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	C	195;200	ENSP00000262570:R195C;ENSP00000389297:R200C	ENSP00000262570:R195C	R	-	1	0	CHCHD3	132131820	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	6.800000	0.75165	2.747000	0.94245	0.650000	0.86243	CGT		0.517	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		51	235	0	0	0	1	0	51	235				
HEATR5A	25938	broad.mit.edu	37	14	31844154	31844154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31844154G>A	ENST00000389961.3	-	11	1710	c.1711C>T	c.(1711-1713)Cac>Tac	p.H571Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.H577Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	571										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAGCAAGGTGATGGCTAACA	0.413																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1729-1731)Cac>Tac		HEAT repeat containing 5A							61.0	63.0	63.0					14																	31844154		1935	4139	6074	SO:0001583	missense	25938						binding	g.chr14:31844154G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1711C>T	14.37:g.31844154G>A	ENSP00000374611:p.His571Tyr					HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y|HEATR5A_ENST00000389961.3_Missense_Mutation_p.H571Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y	p.H577Y	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	12	1913	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		571					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.1729C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981905|3.981905	0.74474|0.74474	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.08008|.	3.14;3.14;3.14;3.14;3.14|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.051661|.	0.85682|.	D|.	0.000000|.	D|D	0.82802|0.82802	0.5116|0.5116	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D;P;D|.	0.76494|.	0.997;0.92;0.999|.	D;P;D|.	0.67725|.	0.92;0.615;0.953|.	T|T	0.83343|0.83343	-0.0007|-0.0007	10|5	0.07990|.	T|.	0.79|.	.|.	19.8765|19.8765	0.96875|0.96875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	577;571;571|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	Y|L	571;571;284;577;577|219	ENSP00000374611:H571Y;ENSP00000405407:H571Y;ENSP00000408681:H284Y;ENSP00000437968:H577Y;ENSP00000384646:H577Y|.	ENSP00000374611:H571Y|.	H|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30913905|30913905	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	5.725000|5.725000	0.68507|0.68507	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CAC|TCA		0.413	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		23	60	0	0	0	1	0	23	60				
UMODL1	89766	broad.mit.edu	37	21	43547924	43547924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43547924G>A	ENST00000408910.2	+	20	3673	c.3673G>A	c.(3673-3675)Gga>Aga	p.G1225R	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.G1281R|UMODL1_ENST00000400424.2_Missense_Mutation_p.G1153R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1225	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAATCCCCCGGAGCCACGTG	0.453																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3841-3843)Gga>Aga		uromodulin-like 1							104.0	101.0	102.0					21																	43547924		1967	4151	6118	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547924G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3673G>A	21.37:g.43547924G>A	ENSP00000386147:p.Gly1225Arg					UMODL1_ENST00000408910.2_Missense_Mutation_p.G1225R|UMODL1_ENST00000400424.1_Missense_Mutation_p.G1153R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R|UMODL1_ENST00000400423.2_3'UTR	p.G1281R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			19	4237	+			1225					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.3841G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	7.905	0.735203	0.15574	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	3.56	2.65	0.31530	Zona pellucida sperm-binding protein (3);	0.363130	0.19826	N	0.105183	T	0.74015	0.3661	L	0.34521	1.04	0.09310	N	1	P;P	0.50443	0.56;0.935	B;B	0.44163	0.112;0.443	T	0.64368	-0.6424	9	.	.	.	-3.8301	9.2905	0.37784	0.1065:0.0:0.8935:0.0	.	1353;1225	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1281;1153;1353;1225;110	ENSP00000383279:G1281R;ENSP00000383276:G1153R;ENSP00000386126:G1353R;ENSP00000386147:G1225R	.	G	+	1	0	UMODL1	42420993	0.672000	0.27530	0.002000	0.10522	0.130000	0.20726	2.925000	0.48884	1.048000	0.40298	0.561000	0.74099	GGA		0.453	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			20	327	0	0	0	1	0	20	327				
PLCB2	5330	broad.mit.edu	37	15	40583386	40583386	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40583386T>C	ENST00000260402.3	-	27	3120		c.e27-2		PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2						activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCTCCTGGGGAGGCCA	0.731																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.e27-2		phospholipase C, beta 2							5.0	7.0	6.0					15																	40583386		1769	3833	5602	SO:0001630	splice_region_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40583386T>C		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2871-2A>G	15.37:g.40583386T>C						PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site		NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	27	3120	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)						A8K6J2|B9EGH5	Splice_Site	SNP	ENST00000260402.3	37		CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626412	0.46840	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2433	0.54555	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCB2	38370678	0.997000	0.39634	0.180000	0.23079	0.091000	0.18340	1.835000	0.39181	1.788000	0.52465	0.459000	0.35465	.		0.731	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		Intron	8	53	0	0	0	1	0	8	53				
ZNF267	10308	broad.mit.edu	37	16	31927189	31927189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927189G>T	ENST00000300870.10	+	4	1828	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	540					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATGAGAGAATTCATACT	0.343																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1618-1620)aGa>aTa		zinc finger protein 267							37.0	41.0	40.0					16																	31927189		2197	4299	6496	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927189G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1619G>T	16.37:g.31927189G>T	ENSP00000300870:p.Arg540Ile					RP11-170L3.8_ENST00000575471.1_RNA	p.R540I	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	1828	+			540					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1619G>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	7.610	0.674609	0.14841	.	.	ENSG00000185947	ENST00000300870	T	0.02446	4.29	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.44359	0.447	T	0.50162	-0.8860	9	0.54805	T	0.06	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	540	Q14586	ZN267_HUMAN	I	540	ENSP00000300870:R540I	ENSP00000300870:R540I	R	+	2	0	ZNF267	31834690	0.000000	0.05858	0.108000	0.21378	0.095000	0.18619	0.278000	0.18753	0.482000	0.27582	0.484000	0.47621	AGA		0.343	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		40	230	1	0	9.39024e-22	1	1.05953e-21	40	230				
OR10J3	441911	broad.mit.edu	37	1	159283537	159283537	+	Missense_Mutation	SNP	G	G	A	rs144550384	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283537G>A	ENST00000332217.5	-	1	912	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGCCCCACGGCTCTGTGCA	0.428													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22495	0.0		0.0	False		,,,				2504	0.0					ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(913-915)Cgt>Tgt		olfactory receptor, family 10, subfamily J, member 3		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	75.0	77.0		913	-4.5	0.0	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	OR10J3	NM_001004467.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/330	159283537	1,13005	2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283537G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.913C>T	1.37:g.159283537G>A	ENSP00000331789:p.Arg305Cys						p.R305C	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	912	-	all_hematologic(112;0.0429)		305						Missense_Mutation	SNP	ENST00000332217.5	37	c.913C>T	CCDS30909.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.72	1.429576	0.25726	2.27E-4	0.0	ENSG00000196266	ENST00000332217	T	0.00538	6.71	5.21	-4.52	0.03472	.	2.411510	0.03146	U	0.167340	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44421	-0.9329	10	0.87932	D	0	.	12.9063	0.58154	0.7819:0.0:0.2181:0.0	.	305	Q5JRS4	O10J3_HUMAN	C	305	ENSP00000331789:R305C	ENSP00000331789:R305C	R	-	1	0	OR10J3	157550161	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.088000	0.01359	-0.865000	0.04073	-0.137000	0.14449	CGT		0.428	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			110	444	0	0	0	1	0	110	444				
REM2	161253	broad.mit.edu	37	14	23353936	23353936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23353936C>T	ENST00000267396.4	+	2	280	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	REM2_ENST00000536884.1_Missense_Mutation_p.R53W	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	53					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGTTGGACCGGAGCGGGTT	0.547																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(157-159)Cgg>Tgg		RAS (RAD and GEM)-like GTP binding 2							47.0	50.0	49.0					14																	23353936		1937	4131	6068	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23353936C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.157C>T	14.37:g.23353936C>T	ENSP00000267396:p.Arg53Trp					REM2_ENST00000536884.1_Missense_Mutation_p.R53W	p.R53W	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	280	+	all_cancers(95;4.69e-05)		53					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.157C>T	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028516	0.35797	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68765	-0.35;1.21	5.82	3.98	0.46160	.	0.626172	0.16062	N	0.231414	T	0.51550	0.1681	N	0.19112	0.55	0.29543	N	0.851932	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.001	T	0.52102	-0.8620	10	0.87932	D	0	.	10.6536	0.45663	0.1317:0.7978:0.0:0.0705	.	53;53	B7Z5P1;Q8IYK8	.;REM2_HUMAN	W	53	ENSP00000267396:R53W;ENSP00000442774:R53W	ENSP00000267396:R53W	R	+	1	2	REM2	22423776	0.197000	0.23362	0.944000	0.38274	0.268000	0.26511	0.611000	0.24268	0.785000	0.33685	0.655000	0.94253	CGG		0.547	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		55	259	0	0	0	1	0	55	259				
SNURF	8926	broad.mit.edu	37	15	25227125	25227125	+	3'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25227125G>A	ENST00000551312.2	+	0	725				SNHG14_ENST00000551361.1_RNA|SNHG14_ENST00000551631.2_RNA|SNHG14_ENST00000459433.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AGCATATATTGCAGAGGCCTT	0.363																																						ENST00000551631.2																			0																				416.0	401.0	406.0					15																	25227125		876	1991	2867	SO:0001624	3_prime_UTR_variant	0							g.chr15:25227125G>A		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.*494G>A	15.37:g.25227125G>A								NR_001293.1						0	428	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1																																																																																				0.363	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		270	1162	0	0	0	1	0	270	1162				
NEDD4	4734	broad.mit.edu	37	15	56139215	56139215	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56139215C>A	ENST00000508342.1	-	14	3116	c.2817G>T	c.(2815-2817)agG>agT	p.R939S	NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S|NEDD4_ENST00000506154.1_Missense_Mutation_p.R923S|NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	939	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTTTGTAATCCCTGGAGTAGG	0.299																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2815-2817)agG>agT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							56.0	55.0	56.0					15																	56139215		2192	4286	6478	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56139215C>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2817G>T	15.37:g.56139215C>A	ENSP00000424827:p.Arg939Ser					NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S|NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S|NEDD4_ENST00000506154.1_Missense_Mutation_p.R923S	p.R939S			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	14	3116	-			939			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2817G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807542|3.807542	0.70797|0.70797	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.24538	.|1.85;1.95;1.89;1.87	5.95|5.95	3.29|3.29	0.37713|0.37713	.|HECT (1);	.|0.122035	.|0.85682	.|D	.|0.000000	T|T	0.52757|0.52757	0.1754|0.1754	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.993;0.999;0.999	.|D;D;D;D	.|0.81914	.|0.995;0.912;0.933;0.952	T|T	0.58741|0.58741	-0.7583|-0.7583	5|10	.|0.87932	.|D	.|0	.|.	9.2975|9.2975	0.37824|0.37824	0.0:0.6987:0.0:0.3013|0.0:0.6987:0.0:0.3013	.|.	.|923;520;939;867	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	V|S	530|939;520;867;923	.|ENSP00000424827:R939S;ENSP00000410613:R520S;ENSP00000345530:R867S;ENSP00000422705:R923S	.|ENSP00000345530:R867S	G|R	-|-	2|3	0|2	NEDD4|NEDD4	53926507|53926507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.470000|1.470000	0.35354|0.35354	1.167000|1.167000	0.42706|0.42706	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.299	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		36	178	1	0	2.05212e-20	1	2.2997e-20	36	178				
SIN3A	25942	broad.mit.edu	37	15	75684615	75684615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684615C>A	ENST00000394947.3	-	15	3133	c.2819G>T	c.(2818-2820)aGc>aTc	p.S940I	SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I|SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATGGCAGGGCTGTCACTCTT	0.502																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2818-2820)aGc>aTc		SIN3 transcription regulator family member A							182.0	168.0	173.0					15																	75684615		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684615C>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2819G>T	15.37:g.75684615C>A	ENSP00000378402:p.Ser940Ile					SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I|SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I	p.S940I	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			15	3133	-			940						Missense_Mutation	SNP	ENST00000394947.3	37	c.2819G>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951296	0.73787	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.48201	0.82;0.82;0.82	5.79	5.79	0.91817	.	0.036039	0.85682	D	0.000000	T	0.55705	0.1937	M	0.61703	1.905	0.80722	D	1	P	0.45474	0.859	P	0.46543	0.52	T	0.54675	-0.8258	10	0.45353	T	0.12	-19.3019	19.0195	0.92908	0.0:1.0:0.0:0.0	.	940	Q96ST3	SIN3A_HUMAN	I	940	ENSP00000378402:S940I;ENSP00000378403:S940I;ENSP00000353622:S940I	ENSP00000353622:S940I	S	-	2	0	SIN3A	73471668	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.715000	0.61909	2.746000	0.94184	0.655000	0.94253	AGC		0.502	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		177	649	1	0	9.20498e-97	1	1.18326e-96	177	649				
CDH26	60437	broad.mit.edu	37	20	58562651	58562651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58562651G>A	ENST00000244047.5	+	8	1292	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CDH26_ENST00000348616.4_Silent_p.S327S			Q8IXH8	CAD26_HUMAN	cadherin 26	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGACATTTCGACTGACCCTG	0.453																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(979-981)tcG>tcA		cadherin 26							126.0	102.0	110.0					20																	58562651		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58562651G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.981G>A	20.37:g.58562651G>A						CDH26_ENST00000244047.5_Silent_p.S327S	p.S327S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		8	1281	+	all_lung(29;0.00963)		327			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.981G>A																																																																																					0.453	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		68	319	0	0	0	1	0	68	319				
MTOR	2475	broad.mit.edu	37	1	11199383	11199383	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11199383T>C	ENST00000361445.4	-	36	5184	c.5108A>G	c.(5107-5109)aAc>aGc	p.N1703S	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1703	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTTCCACATGTTTTTCATGTA	0.498																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5107-5109)aAc>aGc		mechanistic target of rapamycin (serine/threonine kinase)							183.0	182.0	182.0					1																	11199383		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11199383T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5108A>G	1.37:g.11199383T>C	ENSP00000354558:p.Asn1703Ser					MTOR_ENST00000495435.1_5'UTR	p.N1703S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			36	5184	-			1703			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5108A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261750	0.59431	.	.	ENSG00000198793	ENST00000361445	T	0.68765	-0.35	5.91	5.91	0.95273	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.103030	0.64402	D	0.000002	T	0.56140	0.1965	N	0.24115	0.695	0.80722	D	1	B	0.19073	0.033	B	0.22880	0.042	T	0.52011	-0.8632	10	0.44086	T	0.13	-19.7299	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1703	P42345	MTOR_HUMAN	S	1703	ENSP00000354558:N1703S	ENSP00000354558:N1703S	N	-	2	0	MTOR	11121970	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.555000	0.82223	2.254000	0.74563	0.533000	0.62120	AAC		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		75	664	0	0	0	1	0	75	664				
CELF5	60680	broad.mit.edu	37	19	3281290	3281290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3281290C>A	ENST00000292672.2	+	6	734	c.697C>A	c.(697-699)Ctg>Atg	p.L233M	CELF5_ENST00000541430.2_Missense_Mutation_p.L233M	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	233					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCTGGGCATCCTGACGCCGTC	0.662																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(697-699)Ctg>Atg		CUGBP, Elav-like family member 5							103.0	89.0	94.0					19																	3281290		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3281290C>A	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.697C>A	19.37:g.3281290C>A	ENSP00000292672:p.Leu233Met					CELF5_ENST00000292672.2_Missense_Mutation_p.L233M	p.L233M	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			6	733	+			233					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.697C>A	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291455	0.40494	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.30981	2.16;1.59;1.51	3.73	2.39	0.29439	.	0.272295	0.35378	N	0.003255	T	0.28234	0.0697	N	0.25992	0.78	0.37470	D	0.915569	B;P;B	0.51147	0.126;0.942;0.04	B;P;B	0.55824	0.043;0.785;0.027	T	0.16630	-1.0396	10	0.56958	D	0.05	-4.319	3.4995	0.07668	0.0:0.5817:0.0:0.4183	.	119;233;233	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	M	233;233;119	ENSP00000292672:L233M;ENSP00000443498:L233M;ENSP00000335182:L119M	ENSP00000292672:L233M	L	+	1	2	CELF5	3232290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.788000	0.38714	1.813000	0.52934	0.462000	0.41574	CTG		0.662	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		20	665	1	0	6.44725e-10	1	6.81304e-10	20	665				
TBCA	6902	broad.mit.edu	37	5	76989061	76989061	+	Intron	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76989061T>A	ENST00000380377.4	-	3	350				TBCA_ENST00000518338.2_Intron|TBCA_ENST00000520361.1_Intron|TBCA_ENST00000522370.1_Intron|TBCA_ENST00000517881.1_Intron|TBCA_ENST00000517679.1_Intron|TBCA_ENST00000306388.6_Missense_Mutation_p.K92N	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		AAAAAAAAAATTTAAACATGA	0.373																																						ENST00000306388.6																			0				kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(274-276)aaA>aaT		tubulin folding cofactor A							31.0	32.0	32.0					5																	76989061		2203	4300	6503	SO:0001627	intron_variant	6902				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding	g.chr5:76989061T>A	AF038952	CCDS4040.1, CCDS75263.1	5q14.1	2008-02-05	2006-11-21		ENSG00000171530	ENSG00000171530			11579	protein-coding gene	gene with protein product		610058	"""tubulin-specific chaperone a"""			9653160, 8706133	Standard	XM_005248586		Approved		uc003kfh.1	O75347	OTTHUMG00000102173	ENST00000380377.4:c.246+29A>T	5.37:g.76989061T>A						TBCA_ENST00000522370.1_Intron|TBCA_ENST00000518338.2_Intron|TBCA_ENST00000520361.1_Intron|TBCA_ENST00000517881.1_Intron|TBCA_ENST00000517679.1_Intron|TBCA_ENST00000380377.4_Intron	p.K92N			O75347	TBCA_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)	3	305	-		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	0					B4DT30	Missense_Mutation	SNP	ENST00000380377.4	37	c.276A>T	CCDS4040.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365441	0.41902	.	.	ENSG00000171530	ENST00000306388	.	.	.	5.15	-7.35	0.01422	.	.	.	.	.	T	0.13243	0.0321	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22871	-1.0204	6	.	.	.	.	0.6217	0.00779	0.2284:0.2457:0.2858:0.2401	.	92	B4DT30	.	N	92	.	.	K	-	3	2	TBCA	77024817	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.478000	0.00984	-1.189000	0.02702	0.528000	0.53228	AAA		0.373	TBCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220021.3	NM_004607		14	66	0	0	0	1	0	14	66				
PCDHGB7	56099	broad.mit.edu	37	5	140799113	140799113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799113C>A	ENST00000398594.2	+	1	1687	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	563					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGGTGCTGTACCCTGC	0.721																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1687-1689)Ctg>Atg									28.0	35.0	33.0					5																	140799113		2138	4247	6385	SO:0001583	missense	0							g.chr5:140799113C>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1687C>A	5.37:g.140799113C>A	ENSP00000381594:p.Leu563Met					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L563M	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1687	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1687C>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.723682	0.48728	.	.	ENSG00000254122	ENST00000398594	T	0.61980	0.06	5.38	4.51	0.55191	Cadherin-like (1);	0.000000	0.28624	U	0.014683	T	0.81640	0.4865	M	0.89840	3.065	0.23661	N	0.99718	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.75764	-0.3203	10	0.87932	D	0	.	12.9582	0.58442	0.0:0.9204:0.0:0.0796	.	563;563	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	563	ENSP00000381594:L563M	ENSP00000381594:L563M	L	+	1	2	PCDHGB7	140779297	0.071000	0.21146	1.000000	0.80357	0.813000	0.45954	0.749000	0.26320	1.270000	0.44297	0.491000	0.48974	CTG		0.721	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		52	233	1	0	1.07234e-20	1	1.20343e-20	52	233				
SFRP1	6422	broad.mit.edu	37	8	41161013	41161013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41161013C>A	ENST00000220772.3	-	2	926	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	SFRP1_ENST00000379845.3_Missense_Mutation_p.A61S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	197	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCAATGATGGCCTCAGATTTC	0.522																																						ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(589-591)Gcc>Tcc		secreted frizzled-related protein 1							127.0	108.0	114.0					8																	41161013		2203	4300	6503	SO:0001583	missense	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41161013C>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.589G>T	8.37:g.41161013C>A	ENSP00000220772:p.Ala197Ser					SFRP1_ENST00000379845.3_Missense_Mutation_p.A61S	p.A197S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		2	926	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	197			NTR.		O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	37	c.589G>T	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931677	0.34096	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.29917	1.55;1.55	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.186377	0.46145	D	0.000304	T	0.18425	0.0442	N	0.17474	0.49	0.41152	D	0.986038	B	0.13145	0.007	B	0.14023	0.01	T	0.08310	-1.0728	10	0.09338	T	0.73	.	13.877	0.63660	0.1523:0.8477:0.0:0.0	.	197	Q8N474	SFRP1_HUMAN	S	197;61;197	ENSP00000220772:A197S;ENSP00000369174:A61S	ENSP00000220772:A197S	A	-	1	0	SFRP1	41280170	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	1.723000	0.38053	2.793000	0.96121	0.563000	0.77884	GCC		0.522	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		16	188	1	0	1.37522e-17	1	1.51956e-17	16	188				
FAT2	2196	broad.mit.edu	37	5	150930195	150930195	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930195A>C	ENST00000261800.5	-	7	4546	c.4534T>G	c.(4534-4536)Ttg>Gtg	p.L1512V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1512	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGAGGTCCAATTTTCCCACC	0.527																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4534-4536)Ttg>Gtg		FAT atypical cadherin 2							96.0	88.0	91.0					5																	150930195		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150930195A>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4534T>G	5.37:g.150930195A>C	ENSP00000261800:p.Leu1512Val						p.L1512V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	4546	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1512			Cadherin 13.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4534T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878017	0.33162	.	.	ENSG00000086570	ENST00000261800	T	0.73152	-0.72	4.96	-1.55	0.08558	Cadherin (4);Cadherin-like (1);	0.136124	0.32901	N	0.005516	D	0.83408	0.5248	M	0.92604	3.325	0.40652	D	0.982044	D	0.64830	0.994	D	0.63597	0.916	T	0.82872	-0.0242	10	0.72032	D	0.01	.	10.8168	0.46580	0.3463:0.0:0.6537:0.0	.	1512	Q9NYQ8	FAT2_HUMAN	V	1512	ENSP00000261800:L1512V	ENSP00000261800:L1512V	L	-	1	2	FAT2	150910388	0.976000	0.34144	0.423000	0.26634	0.024000	0.10985	0.208000	0.17415	-0.781000	0.04548	-0.248000	0.11899	TTG		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		88	290	0	0	0	1	0	88	290				
PTPRM	5797	broad.mit.edu	37	18	8069961	8069961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8069961C>A	ENST00000332175.8	+	8	2447	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R|PTPRM_ENST00000578571.1_3'UTR	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	470	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGAAGGAAAGCCAAGAACTCA	0.423																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1408-1410)agC>agA		protein tyrosine phosphatase, receptor type, M							94.0	75.0	81.0					18																	8069961		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8069961C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1410C>A	18.37:g.8069961C>A	ENSP00000331418:p.Ser470Arg					PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R	p.S470R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			8	2447	+		Colorectal(10;0.234)	470			Fibronectin type-III 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1410C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071031	0.76301	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.52	-5.01	0.02991	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	M	0.74881	2.28	0.49687	D	0.999814	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.992;0.992	T	0.75337	-0.3353	10	0.27785	T	0.31	.	17.3804	0.87403	0.0:0.7317:0.0:0.2683	.	257;470;470	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	R	470;470;408;257	ENSP00000331418:S470R;ENSP00000382933:S470R;ENSP00000382927:S408R;ENSP00000387608:S257R	ENSP00000331418:S470R	S	+	3	2	PTPRM	8059961	0.841000	0.29509	0.733000	0.30861	0.989000	0.77384	0.065000	0.14466	-0.815000	0.04346	-0.302000	0.09304	AGC		0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			23	115	1	0	1.10513e-12	1	1.18868e-12	23	115				
ZNF782	158431	broad.mit.edu	37	9	99581773	99581773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581773C>T	ENST00000481138.1	-	6	1193	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTAGTTCTGCCATCCTTAATA	0.413																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(532-534)Ggc>Agc		zinc finger protein 782							78.0	78.0	78.0					9																	99581773		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581773C>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.532G>A	9.37:g.99581773C>T	ENSP00000419397:p.Gly178Ser					ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S|ZNF782_ENST00000466833.1_5'UTR	p.G178S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1193	-		Acute lymphoblastic leukemia(62;0.0527)	178					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.532G>A	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.400587|1.400587	0.25291|0.25291	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338;ENST00000478850|ENST00000289032	T;T;T|.	0.05580|.	3.58;3.42;5.92|.	3.38|3.38	-2.69|-2.69	0.06022|0.06022	.|.	.|.	.|.	.|.	.|.	T|.	0.17066|.	0.0410|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|.	0.23904|.	-1.0175|.	9|.	0.66056|.	D|.	0.02|.	.|.	1.2202|1.2202	0.01922|0.01922	0.1871:0.3649:0.2541:0.1939|0.1871:0.3649:0.2541:0.1939	.|.	178|.	Q6ZMW2|.	ZN782_HUMAN|.	S|X	178;46;178|166	ENSP00000419397:G178S;ENSP00000440624:G46S;ENSP00000417577:G178S|.	ENSP00000417577:G178S|.	G|W	-|-	1|2	0|0	ZNF782|ZNF782	98621594|98621594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.104000|0.104000	0.19210|0.19210	-1.035000|-1.035000	0.03564|0.03564	-0.587000|-0.587000	0.05890|0.05890	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.413	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		52	294	0	0	0	1	0	52	294				
PCDHAC1	56135	broad.mit.edu	37	5	140308328	140308328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140308328G>T	ENST00000253807.2	+	1	1851	c.1851G>T	c.(1849-1851)gaG>gaT	p.E617D	PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	617	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAGGTGAGCTCCGTACTG	0.517																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1849-1851)gaG>gaT									88.0	87.0	87.0					5																	140308328		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308328G>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1851G>T	5.37:g.140308328G>T	ENSP00000253807:p.Glu617Asp					PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.E617D	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1851	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1851G>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845520	0.32606	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50813	0.73;0.73	5.95	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71108	0.3301	M	0.86097	2.795	0.25743	N	0.985136	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	T	0.64927	-0.6292	9	0.59425	D	0.04	.	13.826	0.63351	0.1851:0.0:0.8149:0.0	.	617;617	Q9H158;Q9H158-2	PCDC1_HUMAN;.	D	617	ENSP00000386356:E617D;ENSP00000253807:E617D	ENSP00000253807:E617D	E	+	3	2	PCDHAC1	140288512	1.000000	0.71417	0.994000	0.49952	0.199000	0.23934	1.002000	0.29796	0.139000	0.18822	-1.119000	0.02030	GAG		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		86	384	1	0	6.16549e-39	1	7.44507e-39	86	384				
FKBP10	60681	broad.mit.edu	37	17	39978520	39978520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39978520C>A	ENST00000321562.4	+	10	1713	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	537					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAAAGGACGCCTCATGCCTGG	0.602																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1609-1611)Ctc>Atc		FK506 binding protein 10, 65 kDa							68.0	57.0	61.0					17																	39978520		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39978520C>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1609C>A	17.37:g.39978520C>A	ENSP00000317232:p.Leu537Ile					FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	p.L537I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	10	1713	+		Breast(137;0.00122)	537					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.1609C>A	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.018100|4.018100	0.75275|0.75275	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000544340|ENST00000414352	T;T|.	0.55052|.	0.54;0.54|.	5.73|5.73	5.73|5.73	0.89815|0.89815	EF-hand-like domain (1);|.	0.085714|.	0.48286|.	D|.	0.000194|.	T|T	0.48150|0.48150	0.1484|0.1484	L|L	0.28115|0.28115	0.83|0.83	0.49130|0.49130	D|D	0.999752|0.999752	P;B|.	0.45283|.	0.855;0.077|.	B;B|.	0.44163|.	0.443;0.021|.	T|T	0.50742|0.50742	-0.8792|-0.8792	10|6	0.34782|0.72032	T|D	0.22|0.01	-27.9767|-27.9767	8.9862|8.9862	0.35994|0.35994	0.1487:0.7782:0.0:0.0731|0.1487:0.7782:0.0:0.0731	.|.	310;537|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	I|H	425;537;310|536	ENSP00000317232:L537I;ENSP00000442009:L310I|.	ENSP00000269598:L425I|ENSP00000389800:P536H	L|P	+|+	1|2	0|0	FKBP10|FKBP10	37232046|37232046	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.858000|0.858000	0.48976|0.48976	3.196000|3.196000	0.51020|0.51020	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.602	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		12	138	1	0	4.36969e-10	1	4.6211e-10	12	138				
SIPA1L1	26037	broad.mit.edu	37	14	72204965	72204965	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72204965G>T	ENST00000555818.1	+	21	5542	c.5194G>T	c.(5194-5196)Gac>Tac	p.D1732Y	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1732					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCAGTAAAGACTCCTCTCC	0.423																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(5194-5196)Gac>Tac		signal-induced proliferation-associated 1 like 1							94.0	84.0	87.0					14																	72204965		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72204965G>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5194G>T	14.37:g.72204965G>T	ENSP00000450832:p.Asp1732Tyr					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y|SIPA1L1_ENST00000554874.1_3'UTR	p.D1732Y	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	21	5542	+			1732					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.5194G>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211485	0.58343	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.92	5.03	0.67393	.	0.134229	0.64402	D	0.000003	T	0.41213	0.1149	L	0.36672	1.1	0.51767	D	0.999936	B;P;B;B;D	0.54397	0.374;0.896;0.389;0.374;0.966	B;P;B;B;P	0.57204	0.203;0.701;0.369;0.203;0.815	T	0.33979	-0.9847	10	0.72032	D	0.01	-18.8942	15.3804	0.74651	0.0668:0.0:0.9332:0.0	.	1185;1731;1185;1711;1732	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Y	1711;1732;1710;1185	ENSP00000370630:D1711Y;ENSP00000450832:D1732Y;ENSP00000351352:D1710Y;ENSP00000440682:D1185Y	ENSP00000351352:D1732Y	D	+	1	0	SIPA1L1	71274718	1.000000	0.71417	0.994000	0.49952	0.885000	0.51271	7.087000	0.76893	1.521000	0.48983	0.561000	0.74099	GAC		0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		37	211	1	0	2.32173e-10	1	2.46079e-10	37	211				
E2F5	1875	broad.mit.edu	37	8	86127224	86127224	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86127224C>A	ENST00000416274.2	+	0	1728				C8orf59_ENST00000518091.1_Missense_Mutation_p.A53S|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000421308.2_Missense_Mutation_p.A53S|C8orf59_ENST00000458398.2_Missense_Mutation_p.A53S|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000417663.2_Missense_Mutation_p.A53S|C8orf59_ENST00000524353.1_Missense_Mutation_p.A53S|C8orf59_ENST00000431163.2_Intron	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TTTACAAAAGCTTTATTTACT	0.279																																						ENST00000417663.2																			0											c.(157-159)Gct>Tct		chromosome 8 open reading frame 59							43.0	42.0	43.0					8																	86127224		1801	4059	5860	SO:0001628	intergenic_variant	401466							g.chr8:86127224C>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86127224C>A						E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000421308.2_Missense_Mutation_p.A53S|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000518091.1_Missense_Mutation_p.A53S|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000458398.2_Missense_Mutation_p.A53S|C8orf59_ENST00000524353.1_Missense_Mutation_p.A53S	p.A53S	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			3	228	-			53					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.157G>T	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071863	0.55646	.	.	ENSG00000176731	ENST00000417663;ENST00000421308;ENST00000524353;ENST00000518091;ENST00000458398	.	.	.	5.75	4.87	0.63330	.	.	.	.	.	T	0.56717	0.2004	L	0.41236	1.265	0.80722	D	1	P	0.51537	0.946	P	0.48840	0.592	T	0.60094	-0.7330	8	0.62326	D	0.03	-4.2817	14.2009	0.65705	0.0:0.9289:0.0:0.0711	.	53	E5RFW5	.	S	53	.	ENSP00000416245:A53S	A	-	1	0	C8orf59	86314476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.775000	0.47702	2.716000	0.92895	0.655000	0.94253	GCT		0.279	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		6	48	1	0	0.0293803	1	0.0294705	6	48				
IDH2	3418	broad.mit.edu	37	15	90631667	90631667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631667C>T	ENST00000330062.3	-	5	715	c.602G>A	c.(601-603)gGc>gAc	p.G201D	IDH2_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000559482.1_Missense_Mutation_p.G92D|IDH2_ENST00000539790.1_Missense_Mutation_p.G71D	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	201					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GACACCACTGCCATCTTTTGG	0.587			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(601-603)gGc>gAc		isocitrate dehydrogenase 2 (NADP+), mitochondrial							88.0	84.0	85.0					15																	90631667		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631667C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.602G>A	15.37:g.90631667C>T	ENSP00000331897:p.Gly201Asp					IDH2_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000539790.1_Missense_Mutation_p.G71D|IDH2_ENST00000559482.1_Missense_Mutation_p.G92D	p.G201D	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		5	715	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		201					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.602G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819696	0.50633	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.79033	-1.23;-1.23;-1.23	5.8	5.8	0.92144	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	H	0.94385	3.53	0.80722	D	1	D;D	0.69078	0.997;0.973	D;D	0.68483	0.955;0.958	D	0.93049	0.6464	10	0.72032	D	0.01	.	17.553	0.87881	0.0:1.0:0.0:0.0	.	201;201	Q53GL5;P48735	.;IDHP_HUMAN	D	201;71;149	ENSP00000331897:G201D;ENSP00000438457:G71D;ENSP00000446147:G149D	ENSP00000331897:G201D	G	-	2	0	IDH2	88432671	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.781000	0.85668	2.747000	0.94245	0.462000	0.41574	GGC		0.587	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			127	469	0	0	0	1	0	127	469				
A2ML1	144568	broad.mit.edu	37	12	8975302	8975302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8975302G>T	ENST00000299698.7	+	1	235	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	A2ML1-AS2_ENST00000394240.3_RNA|A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATTGCAGAAGAACTTCCGTG	0.483																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(55-57)Gaa>Taa		alpha-2-macroglobulin-like 1							110.0	107.0	108.0					12																	8975302		1912	4128	6040	SO:0001587	stop_gained	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8975302G>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.55G>T	12.37:g.8975302G>T	ENSP00000299698:p.Glu19*					A2ML1-AS1_ENST00000537288.1_RNA	p.E19*	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			1	235	+			0						Nonsense_Mutation	SNP	ENST00000299698.7	37	c.55G>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	37	6.347612	0.97494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	.	.	.	4.09	-0.855	0.10700	.	2.920560	0.01169	N	0.006836	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	2.3015	0.04163	0.1589:0.4917:0.1829:0.1665	.	.	.	.	X	19	.	ENSP00000299698:E19X	E	+	1	0	A2ML1	8866569	0.001000	0.12720	0.001000	0.08648	0.721000	0.41392	-0.003000	0.12901	-0.166000	0.10890	0.655000	0.94253	GAA		0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		80	320	1	0	3.89792e-41	1	4.73322e-41	80	320				
PARP6	56965	broad.mit.edu	37	15	72557756	72557756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72557756C>T	ENST00000569795.1	-	6	922	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PARP6_ENST00000260376.7_Missense_Mutation_p.D79N|PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	79							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCACTTACATCGAGGAAGCTG	0.468																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(235-237)Gat>Aat		poly (ADP-ribose) polymerase family, member 6							133.0	129.0	130.0					15																	72557756		1995	4169	6164	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72557756C>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.235G>A	15.37:g.72557756C>T	ENSP00000456348:p.Asp79Asn					PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.D79N	p.D79N			Q2NL67	PARP6_HUMAN			6	922	-			79					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.235G>A	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	36	5.649327	0.96714	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.66716	-0.5853	9	0.39692	T	0.17	-15.8467	18.1292	0.89596	0.0:1.0:0.0:0.0	.	79;79	Q0VDG0;Q2NL67	.;PARP6_HUMAN	N	79	.	ENSP00000260376:D79N	D	-	1	0	PARP6	70344810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.533000	0.85409	0.563000	0.77884	GAT		0.468	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		27	258	0	0	0	1	0	27	258				
CMYA5	202333	broad.mit.edu	37	5	79032156	79032156	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79032156A>G	ENST00000446378.2	+	2	7599	c.7568A>G	c.(7567-7569)tAc>tGc	p.Y2523C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2523					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGAAGACTACAATGAAAGA	0.373																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7567-7569)tAc>tGc		cardiomyopathy associated 5							63.0	60.0	61.0					5																	79032156		1854	4095	5949	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032156A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7568A>G	5.37:g.79032156A>G	ENSP00000394770:p.Tyr2523Cys						p.Y2523C	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7599	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2523					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7568A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	5.166	0.216253	0.09810	.	.	ENSG00000164309	ENST00000446378	T	0.17054	2.3	5.99	4.81	0.61882	.	1.389500	0.04363	N	0.357746	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.43103	0.408	T	0.16041	-1.0416	10	0.35671	T	0.21	.	6.6843	0.23136	0.6888:0.1537:0.0:0.1575	.	2523	Q8N3K9	CMYA5_HUMAN	C	2523	ENSP00000394770:Y2523C	ENSP00000394770:Y2523C	Y	+	2	0	CMYA5	79067912	0.024000	0.19004	0.947000	0.38551	0.017000	0.09413	2.820000	0.48057	1.045000	0.40225	0.533000	0.62120	TAC		0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		37	146	0	0	0	1	0	37	146				
TMEM132A	54972	broad.mit.edu	37	11	60696127	60696127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696127G>T	ENST00000453848.2	+	4	719	c.561G>T	c.(559-561)gaG>gaT	p.E187D	TMEM132A_ENST00000005286.4_Missense_Mutation_p.E187D			Q24JP5	T132A_HUMAN	transmembrane protein 132A	187						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGTGGTGGAGCTGGAGCTTC	0.652																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(559-561)gaG>gaT		transmembrane protein 132A							44.0	47.0	46.0					11																	60696127		2198	4281	6479	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696127G>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.561G>T	11.37:g.60696127G>T	ENSP00000405823:p.Glu187Asp					TMEM132A_ENST00000453848.2_Missense_Mutation_p.E187D	p.E187D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			4	714	+			187					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.561G>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628841	0.67015	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.08282	3.11;3.11	4.32	3.39	0.38822	.	0.069858	0.52532	D	0.000062	T	0.19446	0.0467	L	0.60455	1.87	0.35948	D	0.833686	D;P;D	0.69078	0.997;0.884;0.994	D;B;P	0.66196	0.942;0.38;0.892	T	0.08513	-1.0718	10	0.87932	D	0	.	7.482	0.27411	0.2093:0.0:0.7907:0.0	.	176;187;187	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	D	187	ENSP00000405823:E187D;ENSP00000005286:E187D	ENSP00000005286:E187D	E	+	3	2	TMEM132A	60452703	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.464000	0.45067	0.923000	0.37045	0.462000	0.41574	GAG		0.652	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		78	423	1	0	4.45923e-32	1	5.26057e-32	78	423				
SPTLC1	10558	broad.mit.edu	37	9	94842364	94842364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94842364C>T	ENST00000262554.2	-	5	366	c.361G>A	c.(361-363)Gct>Act	p.A121T	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	121					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GATGCTAAAGCTGCTGCCTTT	0.363																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(361-363)Gct>Act		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						78.0	76.0	76.0					9																	94842364		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94842364C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.361G>A	9.37:g.94842364C>T	ENSP00000262554:p.Ala121Thr					SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T	p.A121T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			5	366	-			121					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.361G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032641	0.93575	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95554	-2.83;-3.74	5.44	5.44	0.79542	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.69078	0.991;0.996;0.995;0.997	D;D;D;D	0.77557	0.987;0.921;0.973;0.99	D	0.98626	1.0669	10	0.87932	D	0	-19.3186	19.0495	0.93038	0.0:1.0:0.0:0.0	.	121;121;116;121	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	T	121	ENSP00000262554:A121T;ENSP00000337635:A121T	ENSP00000262554:A121T	A	-	1	0	SPTLC1	93882185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.691000	0.68249	2.832000	0.97577	0.655000	0.94253	GCT		0.363	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		62	283	0	0	0	1	0	62	283				
POLL	27343	broad.mit.edu	37	10	103339447	103339447	+	Silent	SNP	G	G	A	rs145961723	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103339447G>A	ENST00000370162.3	-	9	1985	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000456836.2_Silent_p.S234S|POLL_ENST00000370169.1_Silent_p.S497S|POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000339310.3_Silent_p.S220S|POLL_ENST00000463515.1_5'UTR|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Silent_p.S409S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	497	DNA binding.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCAAACTCGCTATAGGGCA	0.607								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(1489-1491)agC>agT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							79.0	79.0	79.0					10																	103339447		2203	4300	6503	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103339447G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1491C>T	10.37:g.103339447G>A						POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000370169.1_Silent_p.S497S|POLL_ENST00000370172.1_Silent_p.S409S|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000339310.3_Silent_p.S220S|POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000456836.2_Silent_p.S234S|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron	p.S497S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	9	1985	-		Colorectal(252;0.234)	497			DNA binding.		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.1491C>T	CCDS7513.1																																																																																				0.607	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		56	576	0	0	0	1	0	56	576				
NWD1	284434	broad.mit.edu	37	19	16926085	16926085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16926085C>T	ENST00000552788.1	+	18	4640	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000524140.2_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1547							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGAAAGTGCCCAGGGAAAT	0.458																																						ENST00000552788.1																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4639-4641)gCc>gTc		NACHT and WD repeat domain containing 1							44.0	38.0	40.0					19																	16926085		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16926085C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4640C>T	19.37:g.16926085C>T	ENSP00000447224:p.Ala1547Val					NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000379808.3_3'UTR	p.A1547V			Q149M9	NWD1_HUMAN			18	4640	+			1547					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.4640C>T		.	.	.	.	.	.	.	.	.	.	C	10.27	1.305035	0.23736	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T	0.57595	0.51;0.39;0.45;0.45	4.86	2.67	0.31697	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	1	B;B	0.17038	0.011;0.02	B;B	0.12156	0.005;0.007	T	0.24548	-1.0157	8	0.02654	T	1	.	7.5034	0.27530	0.0:0.7179:0.0:0.2821	.	1547;1412	Q149M9;C9J2Y8	NWD1_HUMAN;.	V	1412;1505;1341;1547;1412	ENSP00000447548:A1505V;ENSP00000428955:A1341V;ENSP00000447224:A1547V;ENSP00000340159:A1412V	ENSP00000340159:A1412V	A	+	2	0	NWD1	16787085	0.000000	0.05858	0.006000	0.13384	0.207000	0.24258	0.034000	0.13776	1.169000	0.42739	0.650000	0.86243	GCC		0.458	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		24	177	0	0	0	1	0	24	177				
HEATR2	54919	broad.mit.edu	37	7	825229	825229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:825229G>A	ENST00000297440.6	+	13	2527	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	836						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACAAGCACCGCTCGGCCACC	0.607																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(2506-2508)cGc>cAc		HEAT repeat containing 2							72.0	69.0	70.0					7																	825229		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:825229G>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2507G>A	7.37:g.825229G>A	ENSP00000297440:p.Arg836His					HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H	p.R836H	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	13	2527	+		Ovarian(82;0.0112)	836					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.2507G>A	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487539	0.84854	.	.	ENSG00000164818	ENST00000297440;ENST00000537862;ENST00000403952	T;T	0.66460	0.27;-0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.945;0.99	T	0.82741	-0.0307	10	0.44086	T	0.13	-45.2734	15.4112	0.74923	0.0:0.0:1.0:0.0	.	836;261;582	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	H	836;582;261	ENSP00000297440:R836H;ENSP00000384884:R261H	ENSP00000297440:R836H	R	+	2	0	HEATR2	791755	1.000000	0.71417	0.988000	0.46212	0.621000	0.37620	3.835000	0.55805	2.233000	0.73108	0.462000	0.41574	CGC		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		104	396	0	0	0	1	0	104	396				
AHNAK2	113146	broad.mit.edu	37	14	105407193	105407193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105407193G>A	ENST00000333244.5	-	7	14714	c.14595C>T	c.(14593-14595)ttC>ttT	p.F4865F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4865						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGTTTATAGAATTTAGGAA	0.488																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14593-14595)ttC>ttT		AHNAK nucleoprotein 2							31.0	33.0	32.0					14																	105407193		1889	4115	6004	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105407193G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14595C>T	14.37:g.105407193G>A						AHNAK2_ENST00000557457.1_Intron	p.F4865F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14714	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4865					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.14595C>T	CCDS45177.1																																																																																				0.488	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	113	0	0	0	1	0	19	113				
CELSR3	1951	broad.mit.edu	37	3	48698039	48698039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698039C>T	ENST00000164024.4	-	1	2309	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D677N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	677	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTCTGCATCGACTGCCTGA	0.498																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2029-2031)Gat>Aat		cadherin, EGF LAG seven-pass G-type receptor 3							74.0	69.0	71.0					3																	48698039		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698039C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2029G>A	3.37:g.48698039C>T	ENSP00000164024:p.Asp677Asn					CELSR3_ENST00000164024.4_Missense_Mutation_p.D677N	p.D677N			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2309	-			677			Cadherin 4.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2029G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317535	0.81469	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73152	-0.72;-0.72	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92067	0.7486	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95019	0.8159	9	0.87932	D	0	.	20.1342	0.98015	0.0:1.0:0.0:0.0	.	677;747	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	677	ENSP00000164024:D677N;ENSP00000445694:D677N	ENSP00000164024:D677N	D	-	1	0	CELSR3	48673043	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.767000	0.85331	2.754000	0.94517	0.655000	0.94253	GAT		0.498	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		57	219	0	0	0	1	0	57	219				
ZFP14	57677	broad.mit.edu	37	19	36831798	36831798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36831798C>A	ENST00000270001.7	-	5	1045	c.930G>T	c.(928-930)aaG>aaT	p.K310N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ATTCATAGAGCTTTTCAGCAG	0.418																																						ENST00000270001.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(928-930)aaG>aaT		ZFP14 zinc finger protein							98.0	101.0	100.0					19																	36831798		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831798C>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.930G>T	19.37:g.36831798C>A	ENSP00000270001:p.Lys310Asn						p.K310N	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	1045	-	Esophageal squamous(110;0.162)		310					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.930G>T	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.428675	0.43122	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26067	1.76	3.92	-2.22	0.06952	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000215	T	0.38081	0.1027	M	0.70787	2.145	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.65987	0.94;0.94	T	0.28681	-1.0036	10	0.87932	D	0	.	5.1856	0.15182	0.1533:0.2845:0.0:0.5622	.	310;310	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	310	ENSP00000270001:K310N	ENSP00000270001:K310N	K	-	3	2	ZFP14	41523638	0.022000	0.18835	0.988000	0.46212	0.970000	0.65996	-0.718000	0.04980	-0.155000	0.11098	-0.311000	0.09066	AAG		0.418	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		90	398	1	0	5.95195e-44	1	7.27654e-44	90	398				
USP31	57478	broad.mit.edu	37	16	23080093	23080093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23080093C>T	ENST00000219689.7	-	16	3332	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	USP31_ENST00000567975.1_Silent_p.S404S	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTTCTGTGGCGAAGGAGATG	0.587																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3331-3333)tcG>tcA		ubiquitin specific peptidase 31							99.0	106.0	103.0					16																	23080093		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080093C>T	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3333G>A	16.37:g.23080093C>T						USP31_ENST00000567975.1_Silent_p.S404S	p.S1111S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3332	-			1111			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.3333G>A	CCDS10607.1																																																																																				0.587	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		126	613	0	0	0	1	0	126	613				
SHPRH	257218	broad.mit.edu	37	6	146275891	146275891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146275891C>A	ENST00000367505.2	-	2	832	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	SHPRH_ENST00000367503.3_Missense_Mutation_p.G190W|SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W|SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	190					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTAGCCACCCCAAATCTTCT	0.378																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(568-570)Ggg>Tgg		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							117.0	111.0	113.0					6																	146275891		1842	4102	5944	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146275891C>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.568G>T	6.37:g.146275891C>A	ENSP00000356475:p.Gly190Trp					SHPRH_ENST00000367505.2_Missense_Mutation_p.G190W|SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W|SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W	p.G190W	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	966	-		Ovarian(120;0.0365)	190					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.568G>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945785	0.53079	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.66	4.68	0.58851	.	0.686958	0.14236	N	0.332375	T	0.41119	0.1145	L	0.36672	1.1	0.22317	N	0.999206	D;P;P;P	0.54964	0.969;0.911;0.947;0.83	P;B;P;B	0.49528	0.614;0.39;0.594;0.311	T	0.45498	-0.9257	10	0.66056	D	0.02	-5.7981	3.7092	0.08413	0.0:0.6591:0.0:0.3409	.	79;190;190;79	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	W	190;190;190;190;79	ENSP00000356475:G190W;ENSP00000356473:G190W;ENSP00000412797:G190W;ENSP00000275233:G190W	ENSP00000275233:G190W	G	-	1	0	SHPRH	146317584	0.997000	0.39634	0.960000	0.40013	0.600000	0.36913	4.332000	0.59279	2.672000	0.90937	0.655000	0.94253	GGG		0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		71	349	1	0	6.00099e-30	1	7.02477e-30	71	349				
ROMO1	140823	broad.mit.edu	37	20	34288758	34288758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34288758G>T	ENST00000374078.1	+	3	350	c.170G>T	c.(169-171)gGg>gTg	p.G57V	NFS1_ENST00000374092.4_5'Flank|ROMO1_ENST00000374072.1_3'UTR|NFS1_ENST00000540053.1_5'Flank|NFS1_ENST00000397425.1_5'Flank|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V|NFS1_ENST00000306750.3_5'Flank|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V|NFS1_ENST00000541387.1_5'Flank	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	57	Sufficient for antibacterial activity.				cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				cervix(1)	1						GGCGGCATTGGGAAAACCATG	0.502																																						ENST00000374078.1																			0				cervix(1)	1						c.(169-171)gGg>gTg		reactive oxygen species modulator 1							141.0	104.0	117.0					20																	34288758		2203	4300	6503	SO:0001583	missense	140823				cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane		g.chr20:34288758G>T	AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"""mitochondrial targeting GXXXG protein"""		"""chromosome 20 open reading frame 52"""	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.170G>T	20.37:g.34288758G>T	ENSP00000363191:p.Gly57Val					ROMO1_ENST00000374072.1_3'UTR|ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V	p.G57V	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN			3	350	+			57					A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Missense_Mutation	SNP	ENST00000374078.1	37	c.170G>T	CCDS13264.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885100	0.91814	.	.	ENSG00000125995	ENST00000374078;ENST00000374077;ENST00000397416;ENST00000336695	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.76761	-0.2840	9	0.87932	D	0	.	18.1669	0.89731	0.0:0.0:1.0:0.0	.	57	P60602	ROMO1_HUMAN	V	57	ENSP00000363191:G57V;ENSP00000363190:G57V;ENSP00000380561:G57V;ENSP00000338293:G57V	ENSP00000338293:G57V	G	+	2	0	ROMO1	33752172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.594000	0.98254	2.536000	0.85505	0.650000	0.86243	GGG		0.502	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000126404.1	NM_080748		54	308	1	0	1.4709e-25	1	1.68871e-25	54	308				
CAMK1	8536	broad.mit.edu	37	3	9807626	9807626	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807626C>A	ENST00000256460.3	-	3	261				OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000349503.5_Missense_Mutation_p.S294Y|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000302036.7_Missense_Mutation_p.S361Y	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I						cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CAGCTTCCCTCCAGCCTCTCC	0.577																																						ENST00000302036.7																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(1081-1083)tCc>tAc	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							77.0	66.0	70.0					3																	9807626		2203	4300	6503	SO:0001627	intron_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9807626C>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.84-52G>T	3.37:g.9807626C>A						OGG1_ENST00000349503.5_Missense_Mutation_p.S294Y|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000302008.8_3'UTR|CAMK1_ENST00000256460.3_Intron|OGG1_ENST00000383826.5_3'UTR	p.S361Y	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN			7	1425	+	Medulloblastoma(99;0.227)		0					Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.1082C>A	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671888	0.47781	.	.	ENSG00000114026	ENST00000302036;ENST00000349503	T;T	0.63580	-0.05;0.95	3.51	-0.731	0.11151	.	1.710450	0.03226	N	0.178249	T	0.40522	0.1120	N	0.08118	0	0.09310	N	1	B;B	0.34181	0.44;0.164	B;B	0.34536	0.185;0.037	T	0.33240	-0.9876	10	0.54805	T	0.06	-2.0579	3.6462	0.08186	0.0:0.4499:0.1946:0.3556	.	294;361	E5KPM6;E5KPM5	.;.	Y	361;294	ENSP00000306561:S361Y;ENSP00000303132:S294Y	ENSP00000306561:S361Y	S	+	2	0	OGG1	9782626	0.002000	0.14202	0.001000	0.08648	0.079000	0.17450	0.580000	0.23803	-0.155000	0.11098	0.557000	0.71058	TCC		0.577	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		58	229	1	0	1.19403e-26	1	1.3775e-26	58	229				
LPP	4026	broad.mit.edu	37	3	188327248	188327248	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188327248T>G	ENST00000312675.4	+	6	975	c.729T>G	c.(727-729)atT>atG	p.I243M	LPP_ENST00000543006.1_Missense_Mutation_p.I243M|LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	243	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CAGGACAAATTTATGGCTCAG	0.542			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(727-729)atT>atG		LIM domain containing preferred translocation partner in lipoma							51.0	53.0	52.0					3																	188327248		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327248T>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.729T>G	3.37:g.188327248T>G	ENSP00000318089:p.Ile243Met					LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.I243M	p.I243M	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	975	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	243			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.729T>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	T	6.607	0.480433	0.12581	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.55052	1.96;0.54;0.54;1.55	5.53	-7.67	0.01272	.	1.058050	0.07175	N	0.853006	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16571	-1.0398	10	0.32370	T	0.25	.	6.1723	0.20424	0.0646:0.2069:0.1644:0.5642	.	243;243	C9JUT4;Q93052	.;LPP_HUMAN	M	243;243;243;80	ENSP00000393602:I243M;ENSP00000318089:I243M;ENSP00000438891:I243M;ENSP00000393008:I80M	ENSP00000318089:I243M	I	+	3	3	LPP	189809942	0.000000	0.05858	0.003000	0.11579	0.708000	0.40852	-1.016000	0.03633	-1.366000	0.02155	-0.747000	0.03512	ATT		0.542	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		72	272	0	0	0	1	0	72	272				
TPH2	121278	broad.mit.edu	37	12	72416266	72416266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72416266G>T	ENST00000333850.3	+	9	1297	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	386					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTCCATTGGAGAATTAAAGGT	0.428																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1156-1158)Gaa>Taa		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						92.0	86.0	88.0					12																	72416266		2203	4300	6503	SO:0001587	stop_gained	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72416266G>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1156G>T	12.37:g.72416266G>T	ENSP00000329093:p.Glu386*						p.E386*	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			9	1297	+			386					A6NGA4|Q14CB0	Nonsense_Mutation	SNP	ENST00000333850.3	37	c.1156G>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	39	7.518037	0.98332	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.98	5.98	0.97165	.	0.048507	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5335	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	ENSP00000329093:E386X	E	+	1	0	TPH2	70702533	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	GAA		0.428	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		52	235	1	0	2.12129e-23	1	2.41242e-23	52	235				
OPN1SW	611	broad.mit.edu	37	7	128415770	128415770	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128415770C>A	ENST00000249389.2	-	1	74	c.75G>T	c.(73-75)caG>caT	p.Q25H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	25					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAATGTGGTACTGAGGCCCAT	0.537																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(73-75)caG>caT		opsin 1 (cone pigments), short-wave-sensitive							81.0	86.0	85.0					7																	128415770		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415770C>A	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.75G>T	7.37:g.128415770C>A	ENSP00000249389:p.Gln25His						p.Q25H	NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN			1	74	-			25					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.75G>T	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400767	0.62177	.	.	ENSG00000128617	ENST00000249389	T	0.37915	1.17	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	H	0.96576	3.845	0.49213	D	0.999768	D	0.71674	0.998	D	0.87578	0.998	T	0.77029	-0.2739	10	0.87932	D	0	.	9.0173	0.36177	0.0:0.9022:0.0:0.0978	.	25	P03999	OPSB_HUMAN	H	25	ENSP00000249389:Q25H	ENSP00000249389:Q25H	Q	-	3	2	OPN1SW	128203006	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.381000	0.44336	2.538000	0.85594	0.462000	0.41574	CAG		0.537	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		84	454	1	0	4.05715e-38	1	4.88277e-38	84	454				
OR4C46	119749	broad.mit.edu	37	11	51516165	51516165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51516165C>T	ENST00000328188.1	+	1	884	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAAAAATGCCATCAGGAAA	0.343																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(883-885)gCc>gTc		olfactory receptor, family 4, subfamily C, member 46							46.0	39.0	41.0					11																	51516165		2200	4287	6487	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51516165C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.884C>T	11.37:g.51516165C>T	ENSP00000329056:p.Ala295Val						p.A295V	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	884	+			295						Missense_Mutation	SNP	ENST00000328188.1	37	c.884C>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	5.904	0.350805	0.11182	.	.	ENSG00000185926	ENST00000328188	T	0.44881	0.91	2.54	1.6	0.23607	.	0.000000	0.37809	U	0.001934	T	0.35128	0.0921	L	0.58302	1.8	0.23981	N	0.996275	B	0.30727	0.292	B	0.31191	0.125	T	0.29181	-1.0020	10	0.59425	D	0.04	.	7.0259	0.24940	0.0:0.8499:0.0:0.1501	.	295	A6NHA9	O4C46_HUMAN	V	295	ENSP00000329056:A295V	ENSP00000329056:A295V	A	+	2	0	OR4C46	51372741	0.001000	0.12720	0.633000	0.29310	0.093000	0.18481	1.114000	0.31196	0.409000	0.25649	0.186000	0.17326	GCC		0.343	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		65	256	0	0	0	1	0	65	256				
KLF14	136259	broad.mit.edu	37	7	130418358	130418358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418358C>T	ENST00000310992.4	-	1	530	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					TAGGGCCCCTCCAGAGAACCC	0.761																																						ENST00000310992.4																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(502-504)gGa>gAa		Kruppel-like factor 14							3.0	4.0	4.0					7																	130418358		1864	3796	5660	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130418358C>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.503G>A	7.37:g.130418358C>T	ENSP00000310878:p.Gly168Glu						p.G168E	NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN			1	530	-	Melanoma(18;0.0435)		168					Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.503G>A	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	c	0.477	-0.881645	0.02530	.	.	ENSG00000174595	ENST00000310992	T	0.09817	2.94	3.56	-2.17	0.07059	.	.	.	.	.	T	0.03915	0.0110	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43861	-0.9365	9	0.02654	T	1	.	5.1683	0.15098	0.0:0.3054:0.1565:0.538	.	168	Q8TD94	KLF14_HUMAN	E	168	ENSP00000310878:G168E	ENSP00000310878:G168E	G	-	2	0	KLF14	130068898	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.555000	0.05999	-0.670000	0.05282	-0.261000	0.10672	GGA		0.761	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		3	37	0	0	0	1	0	3	37				
OR13G1	441933	broad.mit.edu	37	1	247836210	247836210	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247836210G>T	ENST00000359688.2	-	1	155	c.134C>A	c.(133-135)gCc>gAc	p.A45D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATAGATTTTGGCAATGATGAT	0.438																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(133-135)gCc>gAc		olfactory receptor, family 13, subfamily G, member 1							91.0	75.0	81.0					1																	247836210		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836210G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.134C>A	1.37:g.247836210G>T	ENSP00000352717:p.Ala45Asp					RP11-634B7.4_ENST00000449298.1_RNA	p.A45D	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	155	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		45					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.134C>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357934	0.41801	.	.	ENSG00000197437	ENST00000359688	T	0.10573	2.86	4.33	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.191895	0.25419	N	0.030802	T	0.16557	0.0398	M	0.64630	1.985	0.09310	N	1	P	0.40534	0.72	P	0.47705	0.555	T	0.05468	-1.0883	10	0.87932	D	0	-15.2952	6.4924	0.22123	0.3015:0.0:0.6985:0.0	.	45	Q8NGZ3	O13G1_HUMAN	D	45	ENSP00000352717:A45D	ENSP00000352717:A45D	A	-	2	0	OR13G1	245902833	0.000000	0.05858	0.022000	0.16811	0.005000	0.04900	0.215000	0.17562	0.577000	0.29470	-0.137000	0.14449	GCC		0.438	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		50	254	1	0	6.27289e-28	1	7.28045e-28	50	254				
TRPC1	7220	broad.mit.edu	37	3	142467232	142467232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142467232C>T	ENST00000476941.1	+	4	1048	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	TRPC1_ENST00000273482.6_Missense_Mutation_p.P154S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	188					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTACCCAAGCCCCATGCAGT	0.383																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(460-462)Ccc>Tcc		transient receptor potential cation channel, subfamily C, member 1							167.0	172.0	170.0					3																	142467232		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142467232C>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.562C>T	3.37:g.142467232C>T	ENSP00000419313:p.Pro188Ser					TRPC1_ENST00000476941.1_Missense_Mutation_p.P188S	p.P154S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			3	851	+			188					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.460C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038560	0.93630	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;T	0.81499	-1.5;0.66	5.59	5.59	0.84812	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93472	0.6820	10	0.87932	D	0	-24.4598	19.5934	0.95525	0.0:1.0:0.0:0.0	.	188;154	P48995;P48995-2	TRPC1_HUMAN;.	S	188;154	ENSP00000419313:P188S;ENSP00000273482:P154S	ENSP00000273482:P154S	P	+	1	0	TRPC1	143949922	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.461000	0.80834	2.641000	0.89580	0.460000	0.39030	CCC		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		172	648	0	0	0	1	0	172	648				
FBXO34	55030	broad.mit.edu	37	14	55817495	55817495	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55817495T>C	ENST00000313833.4	+	2	632	c.387T>C	c.(385-387)agT>agC	p.S129S	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.S129S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	129										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGTAGTAACAGGATAG	0.413																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(385-387)agT>agC		F-box protein 34							46.0	50.0	49.0					14																	55817495		2202	4300	6502	SO:0001819	synonymous_variant	55030							g.chr14:55817495T>C	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.387T>C	14.37:g.55817495T>C						FBXO34_ENST00000440021.1_Silent_p.S129S|FBXO34_ENST00000555087.1_3'UTR	p.S129S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	632	+			129					Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	c.387T>C	CCDS32086.1																																																																																				0.413	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			54	183	0	0	0	1	0	54	183				
DNAH17	8632	broad.mit.edu	37	17	76435168	76435168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76435168G>A	ENST00000389840.5	-	73	11891	c.11767C>T	c.(11767-11769)Cga>Tga	p.R3923*	DNAH17_ENST00000585328.1_Intron|DNAH17_ENST00000586052.1_Intron			Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3923	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGCCCCCTCGTACCTGCAGA	0.602																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(11767-11769)Cga>Tga		dynein, axonemal, heavy chain 17							69.0	54.0	59.0					17																	76435168		2203	4300	6503	SO:0001587	stop_gained	8632							g.chr17:76435168G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000389840.5:c.11767C>T	17.37:g.76435168G>A	ENSP00000374490:p.Arg3923*					DNAH17_ENST00000585328.1_Intron|DNAH17_ENST00000586052.1_Intron	p.R3923*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		73	11891	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000389840.5	37	c.11767C>T		.	.	.	.	.	.	.	.	.	.	G	52	19.831898	0.99924	.	.	ENSG00000187775	ENST00000389840	.	.	.	3.69	0.391	0.16282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6418	0.00812	0.3494:0.1666:0.314:0.1701	.	.	.	.	X	3923	.	ENSP00000374490:R3923X	R	-	1	2	DNAH17	73946763	0.979000	0.34478	0.000000	0.03702	0.290000	0.27261	-0.021000	0.12504	-0.049000	0.13379	0.655000	0.94253	CGA		0.602	DNAH17-201	KNOWN	basic	protein_coding	protein_coding		NM_173628		24	104	0	0	0	1	0	24	104				
GCC1	79571	broad.mit.edu	37	7	127225162	127225162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127225162C>T	ENST00000321407.2	-	1	499	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	25					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAGCTGCTTCTTCTGGGTCT	0.552											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(73-75)aaG>aaA		GRIP and coiled-coil domain containing 1							97.0	101.0	100.0					7																	127225162		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127225162C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.75G>A	7.37:g.127225162C>T			OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.K25K	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	499	-			25					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.75G>A	CCDS5796.1																																																																																				0.552	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		131	608	0	0	0	1	0	131	608				
EGR2	1959	broad.mit.edu	37	10	64573855	64573855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573855G>A	ENST00000242480.3	-	2	868	c.543C>T	c.(541-543)ctC>ctT	p.L181L	EGR2_ENST00000411732.1_Silent_p.L131L|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Silent_p.L181L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	181					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTCCTGGTAGAGGTCTCCTG	0.627																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(541-543)ctC>ctT		early growth response 2							84.0	86.0	85.0					10																	64573855		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573855G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.543C>T	10.37:g.64573855G>A						EGR2_ENST00000439032.1_Silent_p.L181L|EGR2_ENST00000411732.1_Silent_p.L131L	p.L181L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	868	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		181					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.543C>T	CCDS7267.1																																																																																				0.627	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		116	433	0	0	0	1	0	116	433				
KMT2C	58508	broad.mit.edu	37	7	151945554	151945554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151945554G>A	ENST00000262189.6	-	14	2183	c.1965C>T	c.(1963-1965)gtC>gtT	p.V655V	KMT2C_ENST00000355193.2_Silent_p.V655V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	655					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTGTGTAACGACTTCAATGT	0.393																																						ENST00000355193.2																			0											c.(1963-1965)gtC>gtT		lysine (K)-specific methyltransferase 2C							81.0	74.0	77.0					7																	151945554		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151945554G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1965C>T	7.37:g.151945554G>A						KMT2C_ENST00000262189.6_Silent_p.V655V	p.V655V							14	2183	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1965C>T	CCDS5931.1																																																																																				0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			53	267	0	0	0	1	0	53	267				
TMEM214	54867	broad.mit.edu	37	2	27258519	27258519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258519C>T	ENST00000238788.9	+	4	622	c.560C>T	c.(559-561)gCg>gTg	p.A187V	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	187					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGCTGCTGGCGAAGGCAGCA	0.567																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(559-561)gCg>gTg		transmembrane protein 214							107.0	111.0	110.0					2																	27258519		1944	4135	6079	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27258519C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.560C>T	2.37:g.27258519C>T	ENSP00000238788:p.Ala187Val					TMEM214_ENST00000404032.3_Intron	p.A187V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			4	622	+			187					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.560C>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596600	0.46318	.	.	ENSG00000119777	ENST00000238788	T	0.44482	0.92	5.67	3.83	0.44106	.	0.332353	0.32273	N	0.006326	T	0.27419	0.0673	N	0.19112	0.55	0.58432	D	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.05370	-1.0889	10	0.29301	T	0.29	-0.2477	12.3036	0.54889	0.0:0.7561:0.1646:0.0794	.	187	Q6NUQ4	TM214_HUMAN	V	187	ENSP00000238788:A187V	ENSP00000238788:A187V	A	+	2	0	TMEM214	27112023	0.073000	0.21202	0.046000	0.18839	0.990000	0.78478	0.348000	0.20031	1.392000	0.46585	0.561000	0.74099	GCG		0.567	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		52	561	0	0	0	1	0	52	561				
MYOZ2	51778	broad.mit.edu	37	4	120072119	120072119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120072119C>T	ENST00000307128.5	+	3	382	c.169C>T	c.(169-171)Cta>Tta	p.L57L		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGGTGCCAGGCTATTTAAGAT	0.398																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(169-171)Cta>Tta		myozenin 2							138.0	129.0	132.0					4																	120072119		2203	4300	6503	SO:0001819	synonymous_variant	51778						protein phosphatase 2B binding	g.chr4:120072119C>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.169C>T	4.37:g.120072119C>T							p.L57L	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			3	382	+			57						Silent	SNP	ENST00000307128.5	37	c.169C>T	CCDS3711.1																																																																																				0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			79	342	0	0	0	1	0	79	342				
CD5L	922	broad.mit.edu	37	1	157804531	157804531	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157804531C>T	ENST00000368174.4	-	4	480	c.384G>A	c.(382-384)gaG>gaA	p.E128E	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	128					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGAAAGAGCTCTCTGGGTCTG	0.562																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(382-384)gaG>gaA		CD5 molecule-like							56.0	59.0	58.0					1																	157804531		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804531C>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.384G>A	1.37:g.157804531C>T							p.E128E	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	480	-	all_hematologic(112;0.0378)		128					A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.384G>A	CCDS1171.1																																																																																				0.562	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		107	299	0	0	0	1	0	107	299				
KMO	8564	broad.mit.edu	37	1	241729796	241729796	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241729796A>C	ENST00000366559.4	+	9	1004	c.693A>C	c.(691-693)aaA>aaC	p.K231N	KMO_ENST00000366558.3_Missense_Mutation_p.K231N|KMO_ENST00000366557.4_Missense_Mutation_p.K231N	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CACAGAACAAATCATTCACAT	0.438																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(691-693)aaA>aaC		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							146.0	140.0	142.0					1																	241729796		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241729796A>C	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.693A>C	1.37:g.241729796A>C	ENSP00000355517:p.Lys231Asn					KMO_ENST00000366557.4_Missense_Mutation_p.K231N|KMO_ENST00000366558.3_Missense_Mutation_p.K231N	p.K231N	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		9	1004	+	Ovarian(103;0.103)|all_lung(81;0.23)		231						Missense_Mutation	SNP	ENST00000366559.4	37	c.693A>C	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945479	0.34377	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51574	0.7;0.7;0.7	5.92	3.65	0.41850	Monooxygenase, FAD-binding (1);	0.084078	0.85682	D	0.000000	T	0.57007	0.2024	L	0.60067	1.865	0.58432	D	0.999996	D;D;P	0.60575	0.988;0.988;0.791	P;P;B	0.62491	0.903;0.903;0.319	T	0.55964	-0.8057	10	0.48119	T	0.1	.	8.0608	0.30631	0.8372:0.0:0.1628:0.0	.	231;231;231	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	N	231	ENSP00000355517:K231N;ENSP00000355516:K231N;ENSP00000355515:K231N	ENSP00000355515:K231N	K	+	3	2	KMO	239796419	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	3.617000	0.54181	1.083000	0.41159	0.528000	0.53228	AAA		0.438	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		120	364	0	0	0	1	0	120	364				
EP300	2033	broad.mit.edu	37	22	41513320	41513320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41513320C>T	ENST00000263253.7	+	2	1443	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	75	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGATGCAGCTTCTAAACAT	0.458			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(223-225)gCt>gTt		E1A binding protein p300							116.0	108.0	111.0					22																	41513320		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513320C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.224C>T	22.37:g.41513320C>T	ENSP00000263253:p.Ala75Val						p.A75V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			2	1443	+			75			Interaction with ALX1.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.224C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957203	0.92726	.	.	ENSG00000100393	ENST00000263253	D	0.84370	-1.84	5.98	5.98	0.97165	.	0.000000	0.48286	D	0.000193	D	0.89462	0.6722	L	0.55213	1.73	0.58432	D	0.999998	P	0.51147	0.942	P	0.57244	0.816	D	0.86223	0.1632	10	0.30078	T	0.28	-7.1964	20.4581	0.99154	0.0:1.0:0.0:0.0	.	75	Q09472	EP300_HUMAN	V	75	ENSP00000263253:A75V	ENSP00000263253:A75V	A	+	2	0	EP300	39843266	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.074000	0.50065	2.835000	0.97688	0.650000	0.86243	GCT		0.458	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		109	342	0	0	0	1	0	109	342				
FAM179B	23116	broad.mit.edu	37	14	45431649	45431649	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431649C>A	ENST00000361577.3	+	1	239	c.25C>A	c.(25-27)Ctt>Att	p.L9I	FAM179B_ENST00000361462.2_Missense_Mutation_p.L9I|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	9										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCCGCGCTGCTTCTGCTGCC	0.612																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(25-27)Ctt>Att		family with sequence similarity 179, member B							20.0	23.0	22.0					14																	45431649		2198	4298	6496	SO:0001583	missense	23116						binding	g.chr14:45431649C>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.25C>A	14.37:g.45431649C>A	ENSP00000355045:p.Leu9Ile					FAM179B_ENST00000361577.3_Missense_Mutation_p.L9I|FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I	p.L9I			Q9Y4F4	F179B_HUMAN			1	208	+			9					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.25C>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508303	0.44660	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.38240	2.33;2.33;1.15	4.88	2.95	0.34219	.	0.355039	0.20528	N	0.090567	T	0.24774	0.0601	N	0.24115	0.695	0.19575	N	0.999969	B;B;B;B	0.28760	0.221;0.221;0.221;0.221	B;B;B;B	0.34652	0.121;0.187;0.187;0.187	T	0.18681	-1.0329	10	0.48119	T	0.1	-0.5936	6.3557	0.21400	0.0:0.7529:0.0:0.2471	.	9;9;9;9	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	I	9	ENSP00000355045:L9I;ENSP00000354917:L9I;ENSP00000371668:L9I	ENSP00000354917:L9I	L	+	1	0	FAM179B	44501399	0.933000	0.31639	0.356000	0.25785	0.748000	0.42578	1.172000	0.31908	0.555000	0.29079	0.655000	0.94253	CTT		0.612	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		48	215	1	0	3.21987e-24	1	3.67739e-24	48	215				
SGPP1	81537	broad.mit.edu	37	14	64152848	64152848	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64152848A>G	ENST00000247225.6	-	3	1395	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	434					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AAAGAAAAATATGTAAGGAAC	0.343																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(1300-1302)aTa>aCa		sphingosine-1-phosphate phosphatase 1							62.0	51.0	55.0					14																	64152848		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64152848A>G	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1301T>C	14.37:g.64152848A>G	ENSP00000247225:p.Ile434Thr						p.I434T	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1395	-			434					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1301T>C	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061569	0.36373	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.382330	0.26757	N	0.022650	T	0.42426	0.1202	L	0.40543	1.245	0.27067	N	0.963403	B	0.28713	0.22	B	0.24541	0.054	T	0.45145	-0.9281	9	0.66056	D	0.02	-5.5979	16.6406	0.85098	1.0:0.0:0.0:0.0	.	434	Q9BX95	SGPP1_HUMAN	T	434	.	ENSP00000247225:I434T	I	-	2	0	SGPP1	63222601	1.000000	0.71417	0.770000	0.31555	0.818000	0.46254	6.928000	0.75846	2.326000	0.78906	0.533000	0.62120	ATA		0.343	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		26	111	0	0	0	1	0	26	111				
JAG1	182	broad.mit.edu	37	20	10620604	10620604	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10620604C>A	ENST00000254958.5	-	26	3715		c.e26-1		JAG1_ENST00000423891.2_Splice_Site	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1						angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACAAGGAAATCTGTAAGGCAG	0.488									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.e26-1		jagged 1							30.0	26.0	28.0					20																	10620604		2203	4300	6503	SO:0001630	splice_region_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620604C>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3200-1G>T	20.37:g.10620604C>A						JAG1_ENST00000423891.2_Splice_Site		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	3715	-								A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Splice_Site	SNP	ENST00000254958.5	37		CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094210	0.56075	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0887	0.97806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAG1	10568604	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.825000	0.97269	0.655000	0.94253	.		0.488	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	Intron	27	132	1	0	7.07758e-08	1	7.37026e-08	27	132				
AHI1	54806	broad.mit.edu	37	6	135778797	135778797	+	Missense_Mutation	SNP	C	C	T	rs139944375	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135778797C>T	ENST00000367800.4	-	7	1202	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	329	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGGGCTATCTCGGCTTGTTAT	0.358																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(985-987)cGa>cAa		Abelson helper integration site 1							170.0	163.0	166.0					6																	135778797		1911	4114	6025	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135778797C>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.986G>A	6.37:g.135778797C>T	ENSP00000356774:p.Arg329Gln					AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q	p.R329Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	7	1202	-	Breast(56;0.239)|Colorectal(23;0.24)		329					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.986G>A	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801309	0.31869	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.57752	0.43;0.43;0.43;0.38	5.5	-3.68	0.04463	.	1.206670	0.05757	N	0.604317	T	0.20292	0.0488	L	0.60455	1.87	0.24048	N	0.996058	B;B	0.20261	0.043;0.026	B;B	0.12837	0.008;0.002	T	0.18335	-1.0340	10	0.32370	T	0.25	-0.1692	2.7604	0.05305	0.1077:0.226:0.1783:0.488	.	329;329	Q8N157-2;Q8N157	.;AHI1_HUMAN	Q	329	ENSP00000356774:R329Q;ENSP00000388650:R329Q;ENSP00000265602:R329Q;ENSP00000322478:R329Q	ENSP00000265602:R329Q	R	-	2	0	AHI1	135820490	0.693000	0.27728	0.826000	0.32828	0.433000	0.31745	-0.024000	0.12435	-0.422000	0.07405	0.460000	0.39030	CGA		0.358	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		95	417	0	0	0	1	0	95	417				
FCER1A	2205	broad.mit.edu	37	1	159273844	159273844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159273844G>A	ENST00000368115.1	+	4	302	c.203G>A	c.(202-204)gGc>gAc	p.G68D	FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	68	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTCCACAATGGCAGCCTTTCA	0.368																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(202-204)gGc>gAc		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						74.0	72.0	73.0					1																	159273844		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159273844G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.203G>A	1.37:g.159273844G>A	ENSP00000357097:p.Gly68Asp					FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	p.G68D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			4	302	+	all_hematologic(112;0.0429)		68			Ig-like 1.			Missense_Mutation	SNP	ENST00000368115.1	37	c.203G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328005	0.24080	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12255	2.7;2.7	4.7	-5.08	0.02929	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.517714	0.17599	N	0.168482	T	0.03827	0.0108	L	0.49513	1.565	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.38178	-0.9673	10	0.36615	T	0.2	.	11.939	0.52890	0.5089:0.0:0.4911:0.0	.	68	P12319	FCERA_HUMAN	D	68;35	ENSP00000357097:G68D;ENSP00000357096:G35D	ENSP00000357096:G35D	G	+	2	0	FCER1A	157540468	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.513000	0.06305	-0.927000	0.03766	-0.219000	0.12488	GGC		0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		77	375	0	0	0	1	0	77	375				
MBD2	8932	broad.mit.edu	37	18	51686260	51686260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686260G>A	ENST00000256429.3	-	6	1351	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	375					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TGCTGTACTCGCTCTTCCTGT	0.398																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1123-1125)Cga>Tga		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						125.0	101.0	109.0					18																	51686260		2203	4300	6503	SO:0001587	stop_gained	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51686260G>A	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1123C>T	18.37:g.51686260G>A	ENSP00000256429:p.Arg375*					MBD2_ENST00000579025.1_5'UTR	p.R375*	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	6	1351	-			375					O95242|Q9UIS8	Nonsense_Mutation	SNP	ENST00000256429.3	37	c.1123C>T	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	G	39	7.661500	0.98419	.	.	ENSG00000134046	ENST00000256429	.	.	.	5.77	5.77	0.91146	.	0.065090	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4375	13.7042	0.62627	0.0:0.0:0.8457:0.1543	.	.	.	.	X	375	.	ENSP00000256429:R375X	R	-	1	2	MBD2	49940258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.862000	0.48388	2.724000	0.93272	0.561000	0.74099	CGA		0.398	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		39	261	0	0	0	1	0	39	261				
SSH1	54434	broad.mit.edu	37	12	109201572	109201572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109201572C>T	ENST00000326495.5	-	8	661	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000551165.1_Missense_Mutation_p.E190K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	190					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCCACTTCGCAGGCCTTG	0.592																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(568-570)Gaa>Aaa		slingshot protein phosphatase 1							38.0	41.0	40.0					12																	109201572		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109201572C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.568G>A	12.37:g.109201572C>T	ENSP00000315713:p.Glu190Lys					SSH1_ENST00000551165.1_Missense_Mutation_p.E190K|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000360239.3_5'UTR	p.E190K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			8	661	-			190					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.568G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920053	0.92249	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000303438	T;T;T	0.37058	1.22;1.22;1.22	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.69078	0.87;0.997;0.87;0.906	P;P;B;B	0.59546	0.454;0.859;0.269;0.372	T	0.47182	-0.9137	10	0.36615	T	0.2	-25.9072	18.0508	0.89347	0.0:1.0:0.0:0.0	.	201;94;190;190	Q8WYL5-5;Q8WYL5-3;Q8WYL5-2;Q8WYL5	.;.;.;SSH1_HUMAN	K	190;190;201;94	ENSP00000315713:E190K;ENSP00000448824:E190K;ENSP00000326107:E201K	ENSP00000307610:E94K	E	-	1	0	SSH1	107725701	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.747000	0.85070	2.488000	0.83962	0.655000	0.94253	GAA		0.592	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		50	208	0	0	0	1	0	50	208				
RAB36	9609	broad.mit.edu	37	22	23495220	23495220	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23495220G>A	ENST00000263116.2	+	5	466	c.426G>A	c.(424-426)agG>agA	p.R142R	RAB36_ENST00000341989.4_Splice_Site_p.G120G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	142					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCCCCCACAGGTTTTGCAAGA	0.478																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e5-1		RAB36, member RAS oncogene family							164.0	156.0	158.0					22																	23495220		2203	4300	6503	SO:0001630	splice_region_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23495220G>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.426-1G>A	22.37:g.23495220G>A						RAB36_ENST00000341989.4_Splice_Site_p.G120_splice	p.R142_splice	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	5	466	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		142					Q2M390|Q7Z4A9|Q9UHP5	Splice_Site	SNP	ENST00000263116.2	37	c.425_splice	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822898	0.50739	.	.	ENSG00000100228	ENST00000420895	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59139	-0.7510	4	.	.	.	.	10.4969	0.44783	0.0886:0.0:0.9114:0.0	.	.	.	.	I	37	.	.	V	+	1	0	RAB36	21825220	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.501000	0.53325	2.709000	0.92574	0.563000	0.77884	GTT		0.478	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914	Silent	115	404	0	0	0	1	0	115	404				
TSHZ3	57616	broad.mit.edu	37	19	31767496	31767496	+	Missense_Mutation	SNP	G	G	A	rs541898039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31767496G>A	ENST00000240587.4	-	2	3530	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1068					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P885L(1)|p.P1068L(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGTCTTCCGGAGATTTCCC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20666	0.0		0.0	False		,,,				2504	0.0					ENST00000240587.4																			2	Substitution - Missense(2)	p.P885L(1)|p.P1068L(1)	endometrium(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(3202-3204)cCg>cTg		teashirt zinc finger homeobox 3							151.0	145.0	147.0					19																	31767496		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767496G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3203C>T	19.37:g.31767496G>A	ENSP00000240587:p.Pro1068Leu						p.P1068L	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	3530	-	Esophageal squamous(110;0.226)		1068					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.3203C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133706	0.56828	.	.	ENSG00000121297	ENST00000240587	T	0.41400	1.0	5.93	5.93	0.95920	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.68952	2.095	0.80722	D	1	P	0.47253	0.892	B	0.35240	0.198	T	0.54022	-0.8355	10	0.87932	D	0	-8.4718	20.3507	0.98813	0.0:0.0:1.0:0.0	.	1068	Q63HK5	TSH3_HUMAN	L	1068	ENSP00000240587:P1068L	ENSP00000240587:P1068L	P	-	2	0	TSHZ3	36459336	1.000000	0.71417	0.097000	0.21041	0.715000	0.41141	9.441000	0.97557	2.808000	0.96608	0.655000	0.94253	CCG		0.468	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		77	301	0	0	0	1	0	77	301				
KIAA1549	57670	broad.mit.edu	37	7	138522642	138522642	+	3'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138522642C>T	ENST00000422774.1	-	0	5910				KIAA1549_ENST00000242365.4_3'UTR|TMEM213_ENST00000413208.1_Silent_p.G61G|KIAA1549_ENST00000440172.1_3'UTR			Q9HCM3	K1549_HUMAN	KIAA1549							integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATCTGCGAGGCGAGGCCGATC	0.567			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000413208.1				Dom	yes		7	7q34	57670		KIAA1549			O					0				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						c.(181-183)ggC>ggT		transmembrane protein 213							35.0	37.0	36.0					7																	138522642		1960	4141	6101	SO:0001624	3_prime_UTR_variant	155006					integral to membrane		g.chr7:138522642C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.*9G>A	7.37:g.138522642C>T						KIAA1549_ENST00000422774.1_3'UTR|KIAA1549_ENST00000440172.1_3'UTR|KIAA1549_ENST00000242365.4_3'UTR	p.G61G			A2RRL7	TM213_HUMAN			3	276	+			0					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.183C>T	CCDS56513.1																																																																																				0.567	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			16	89	0	0	0	1	0	16	89				
ANAPC4	29945	broad.mit.edu	37	4	25390499	25390499	+	Silent	SNP	C	C	T	rs140263991	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25390499C>T	ENST00000315368.3	+	7	652	c.510C>T	c.(508-510)gaC>gaT	p.D170D	ANAPC4_ENST00000510092.1_Silent_p.D170D	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCTTGGGAGACGTCAGGTAAA	0.294																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(508-510)gaC>gaT		anaphase promoting complex subunit 4		C		0,4356		0,0,2178	43.0	48.0	46.0		510	-0.5	1.0	4	dbSNP_134	46	1,8565		0,1,4282	no	coding-synonymous	ANAPC4	NM_013367.2		0,1,6460	TT,TC,CC		0.0117,0.0,0.0077		170/809	25390499	1,12921	2178	4283	6461	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25390499C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.510C>T	4.37:g.25390499C>T						ANAPC4_ENST00000510092.1_Silent_p.D170D	p.D170D	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			7	652	+		Breast(46;0.0503)	170					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.510C>T	CCDS3434.1																																																																																				0.294	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		28	184	0	0	0	1	0	28	184				
OR5M11	219487	broad.mit.edu	37	11	56310088	56310088	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310088A>G	ENST00000528616.2	-	1	669	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AAGGCATAGGACACCAAGACG	0.493																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(646-648)Tcc>Ccc		olfactory receptor, family 5, subfamily M, member 11							73.0	74.0	74.0					11																	56310088		2065	4230	6295	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310088A>G	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.646T>C	11.37:g.56310088A>G	ENSP00000432417:p.Ser216Pro						p.S216P	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	669	-			216					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.646T>C	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877410	0.51801	.	.	ENSG00000255223	ENST00000528616	T	0.46819	0.86	4.85	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75072	0.3800	H	0.95402	3.665	0.32543	N	0.533459	D	0.89917	1.0	D	0.81914	0.995	T	0.82295	-0.0528	9	0.87932	D	0	.	9.9357	0.41550	0.8476:0.0:0.0:0.1524	.	216	Q96RB7	OR5MB_HUMAN	P	216	ENSP00000432417:S216P	ENSP00000432417:S216P	S	-	1	0	OR5M11	56066664	0.974000	0.33945	1.000000	0.80357	0.781000	0.44180	3.158000	0.50723	0.868000	0.35678	0.514000	0.50259	TCC		0.493	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		53	224	0	0	0	1	0	53	224				
WNT9A	7483	broad.mit.edu	37	1	228109546	228109546	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228109546G>T	ENST00000272164.5	-	4	781	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	257					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGCTTCATTGGTGGTGCTGC	0.677																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(769-771)acC>acA		wingless-type MMTV integration site family, member 9A							54.0	55.0	55.0					1																	228109546		2203	4300	6503	SO:0001819	synonymous_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109546G>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.771C>A	1.37:g.228109546G>T						WNT9A_ENST00000497852.1_Intron	p.T257T	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			4	781	-		Prostate(94;0.0405)	257					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	c.771C>A	CCDS31045.1																																																																																				0.677	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		44	512	1	0	3.86236e-30	1	4.52529e-30	44	512				
ARHGEF28	64283	broad.mit.edu	37	5	73154028	73154028	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73154028G>T	ENST00000426542.2	+	15	2051	c.2031G>T	c.(2029-2031)gaG>gaT	p.E677D	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E364D|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E677D|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E677D|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E677D|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.E677D|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E677D			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	677					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TGGGGAAAGAGTCACTGCAGT	0.443																																						ENST00000545377.1																			0											c.(2029-2031)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 28							213.0	209.0	211.0					5																	73154028		1902	4132	6034	SO:0001583	missense	64283							g.chr5:73154028G>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2031G>T	5.37:g.73154028G>T	ENSP00000412175:p.Glu677Asp					ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E677D|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E677D|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E677D|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E677D|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E677D|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E364D	p.E677D	NM_001080479.2	NP_001073948.2					16	2207	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.2031G>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481684	0.26598	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.35	2.35	0.29111	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	D	0.82379	0.5024	N	0.21142	0.635	0.29604	N	0.847437	B;B;B;B	0.31503	0.326;0.176;0.011;0.009	B;B;B;B	0.32864	0.154;0.078;0.101;0.036	T	0.72747	-0.4200	9	0.08381	T	0.77	.	6.2498	0.20839	0.2183:0.0:0.6475:0.1342	.	364;677;677;677	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	D	677;677;677;677;677;677;364	ENSP00000296794:E677D;ENSP00000441913:E677D;ENSP00000441436:E677D;ENSP00000287898:E677D;ENSP00000411459:E677D;ENSP00000412175:E677D;ENSP00000296799:E364D	ENSP00000287898:E677D	E	+	3	2	RP11-428C6.1	73189784	0.998000	0.40836	1.000000	0.80357	0.757000	0.42996	0.377000	0.20552	1.261000	0.44149	0.563000	0.77884	GAG		0.443	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			131	689	1	0	1.36427e-64	1	1.72405e-64	131	689				
YWHAEP7	284100	broad.mit.edu	37	17	36214763	36214763	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36214763G>A	ENST00000590732.1	-	0	303					NR_024178.1																						GAAAACCTTGGACTTGCCAGT	0.373																																						ENST00000590732.1																			0																																																			0							g.chr17:36214763G>A																													17.37:g.36214763G>A								NR_024178.1						0	303	-									RNA	SNP	ENST00000590732.1	37																																																																																						0.373	RP11-115K3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000451947.1			17	88	0	0	0	1	0	17	88				
MYH7B	57644	broad.mit.edu	37	20	33582190	33582190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33582190C>A	ENST00000262873.7	+	25	2904	c.2812C>A	c.(2812-2814)Ctg>Atg	p.L938M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	896						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGACCTGGCCCTGCAGCTGCA	0.672																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2812-2814)Ctg>Atg		myosin, heavy chain 7B, cardiac muscle, beta							18.0	24.0	22.0					20																	33582190		2097	4211	6308	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33582190C>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2812C>A	20.37:g.33582190C>A	ENSP00000262873:p.Leu938Met						p.L938M	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		25	2904	+			896					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2812C>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693707	0.48202	.	.	ENSG00000078814	ENST00000262873	D	0.94000	-3.33	4.32	-1.0	0.10196	.	0.000000	0.30201	N	0.010175	D	0.95736	0.8613	M	0.85542	2.76	0.34256	D	0.67939	D	0.76494	0.999	D	0.85130	0.997	D	0.94844	0.8007	10	0.59425	D	0.04	.	9.0813	0.36554	0.0:0.626:0.0:0.374	.	896	A7E2Y1	MYH7B_HUMAN	M	938	ENSP00000262873:L938M	ENSP00000262873:L938M	L	+	1	2	MYH7B	33045851	0.552000	0.26505	0.976000	0.42696	0.779000	0.44077	1.227000	0.32576	-0.240000	0.09696	-0.768000	0.03414	CTG		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		18	199	1	0	9.16793e-09	1	9.60025e-09	18	199				
DNAJC11	55735	broad.mit.edu	37	1	6694606	6694606	+	3'UTR	SNP	G	G	A	rs370946581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6694606G>A	ENST00000377577.5	-	0	2932				DNAJC11_ENST00000465508.1_5'UTR|THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R313C	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGTGCGGCGCTTGCTCCGA	0.677																																						ENST00000349363.6																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(937-939)Cgc>Tgc		DnaJ (Hsp40) homolog, subfamily C, member 11		G	,	0,1752		0,0,876	14.0	14.0	14.0		,	-5.2	0.0	1		14	1,3981		0,1,1990	no	utr-3,utr-3	DNAJC11,THAP3	NM_018198.3,NM_138350.3	,	0,1,2866	AA,AG,GG		0.0251,0.0,0.0174	,	,	6694606	1,5733	876	1991	2867	SO:0001624	3_prime_UTR_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6694606G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.*1129C>T	1.37:g.6694606G>A						THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000377577.5_3'UTR|DNAJC11_ENST00000465508.1_5'UTR	p.R313C			Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	8	978	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	0					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.937C>T	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068489	0.20067	0.0	2.51E-4	ENSG00000007923	ENST00000451196;ENST00000349363	T;T	0.39592	1.5;1.07	4.82	-5.23	0.02798	.	.	.	.	.	T	0.22859	0.0552	.	.	.	0.09310	N	0.999997	B	0.10296	0.003	B	0.04013	0.001	T	0.27673	-1.0067	8	0.87932	D	0	.	1.0271	0.01530	0.166:0.3608:0.1955:0.2777	.	327	Q5TH61	.	C	327;313	ENSP00000415871:R327C;ENSP00000326304:R313C	ENSP00000326304:R313C	R	-	1	0	DNAJC11	6617193	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.324000	0.02690	-1.118000	0.02961	-0.379000	0.06801	CGC		0.677	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		5	84	0	0	0	1	0	5	84				
PCNXL4	64430	broad.mit.edu	37	14	60591214	60591214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591214G>A	ENST00000406854.1	+	9	2879	c.2325G>A	c.(2323-2325)agG>agA	p.R775R	PCNXL4_ENST00000317623.4_Silent_p.R541R|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Silent_p.R775R|PCNXL4_ENST00000406949.1_Silent_p.R541R			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	775						integral component of membrane (GO:0016021)											GCTCCAAAAGGCCTGGCATGA	0.388																																						ENST00000406854.1																			0											c.(2323-2325)agG>agA		pecanex-like 4 (Drosophila)							99.0	105.0	103.0					14																	60591214		2203	4300	6503	SO:0001819	synonymous_variant	64430							g.chr14:60591214G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2325G>A	14.37:g.60591214G>A						PCNXL4_ENST00000404681.2_Silent_p.R775R|PCNXL4_ENST00000317623.4_Silent_p.R541R|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Silent_p.R541R	p.R775R							9	2879	+								A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.2325G>A																																																																																					0.388	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		108	431	0	0	0	1	0	108	431				
PNPLA7	375775	broad.mit.edu	37	9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A	rs538892595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140361890G>A	ENST00000277531.4	-	25	3029	c.2843C>T	c.(2842-2844)gCg>gTg	p.A948V	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A973V	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	948	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.001					ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2917-2919)gCg>gTg		patatin-like phospholipase domain containing 7							87.0	72.0	77.0					9																	140361890		2203	4299	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361890G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2843C>T	9.37:g.140361890G>A	ENSP00000277531:p.Ala948Val					PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000277531.4_Missense_Mutation_p.A948V|PNPLA7_ENST00000492278.1_5'UTR	p.A973V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	26	3254	-	all_cancers(76;0.126)		948			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2918C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510093	0.12883	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.41	3.23	0.37069	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.200670	0.05642	N	0.583553	T	0.67021	0.2849	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.21071	0.051;0.009;0.004;0.0	B;B;B;B	0.18561	0.022;0.006;0.004;0.002	T	0.55780	-0.8087	10	0.51188	T	0.08	-3.1521	6.744	0.23451	0.3414:0.0:0.6586:0.0	.	356;973;948;214	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	554;356;948;973;948;939	ENSP00000360512:A554V;ENSP00000360501:A356V;ENSP00000277531:A948V;ENSP00000384610:A973V;ENSP00000400582:A939V	ENSP00000277531:A948V	A	-	2	0	PNPLA7	139481711	0.000000	0.05858	0.033000	0.17914	0.004000	0.04260	-0.060000	0.11712	1.279000	0.44446	0.561000	0.74099	GCG		0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		16	336	0	0	0	1	0	16	336				
PSMC4	5704	broad.mit.edu	37	19	40480536	40480536	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40480536A>G	ENST00000157812.2	+	5	773	c.575A>G	c.(574-576)aAg>aGg	p.K192R	PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGCTCTACAAGCAGGTGAGG	0.617																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(574-576)aAg>aGg		proteasome (prosome, macropain) 26S subunit, ATPase, 4							49.0	53.0	51.0					19																	40480536		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480536A>G	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.575A>G	19.37:g.40480536A>G	ENSP00000157812:p.Lys192Arg					PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	p.K192R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			5	773	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		192					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.575A>G	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	a	15.76	2.927663	0.52759	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94897	-3.55;-3.55	5.19	5.19	0.71726	.	0.047137	0.85682	D	0.000000	D	0.88001	0.6320	N	0.11845	0.185	0.58432	D	0.999995	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.003	D	0.83962	0.0322	10	0.39692	T	0.17	-7.8807	12.9876	0.58599	1.0:0.0:0.0:0.0	.	161;192	P43686-2;P43686	.;PRS6B_HUMAN	R	192;161	ENSP00000157812:K192R;ENSP00000413869:K161R	ENSP00000157812:K192R	K	+	2	0	PSMC4	45172376	1.000000	0.71417	0.900000	0.35374	0.768000	0.43524	8.970000	0.93415	1.948000	0.56530	0.402000	0.26972	AAG		0.617	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		59	303	0	0	0	1	0	59	303				
DSEL	92126	broad.mit.edu	37	18	65178608	65178608	+	Missense_Mutation	SNP	C	C	T	rs369391532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178608C>T	ENST00000310045.7	-	2	4741	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1080			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGTTCATACTCGAAAGCATAA	0.363																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3268-3270)Gag>Aag		dermatan sulfate epimerase-like		C	LYS/GLU	0,4406		0,0,2203	69.0	66.0	67.0		3268	4.8	0.7	18		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	DSEL	NM_032160.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1090/1223	65178608	1,13005	2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178608C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3268G>A	18.37:g.65178608C>T	ENSP00000310565:p.Glu1090Lys					CTD-2541J13.2_ENST00000583493.1_RNA	p.E1090K	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4741	-		Esophageal squamous(42;0.129)	1080		K -> E (in a colorectal cancer sample; somatic mutation).			Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3268G>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495674	0.64186	0.0	1.16E-4	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25414	1.8	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.467156	0.19485	U	0.113125	T	0.45875	0.1364	M	0.68952	2.095	0.50813	D	0.99989	D	0.63880	0.993	P	0.56474	0.799	T	0.48768	-0.9006	10	0.66056	D	0.02	-16.9802	18.2029	0.89844	0.0:1.0:0.0:0.0	.	1080	Q8IZU8	DSEL_HUMAN	K	1090;1080	ENSP00000310565:E1090K	ENSP00000310565:E1090K	E	-	1	0	DSEL	63329588	1.000000	0.71417	0.725000	0.30721	0.448000	0.32197	5.870000	0.69620	2.356000	0.79943	0.563000	0.77884	GAG		0.363	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		41	218	0	0	0	1	0	41	218				
CTBP1	1487	broad.mit.edu	37	4	1245007	1245007	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1245007C>T	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000578730.1_RNA|CTBP1_ENST00000382952.3_5'Flank|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCTGCAGAGCTGTCTGCTCC	0.582																																						ENST00000581398.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr4:1245007C>T	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1245007C>T	Exception_encountered					CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA		NR_033339.1						0	961	+								Q4W5N3|Q7Z2Q5	RNA	SNP	ENST00000290921.6	37		CCDS3348.1																																																																																				0.582	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		15	54	0	0	0	1	0	15	54				
SEL1L3	23231	broad.mit.edu	37	4	25831741	25831741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25831741C>T	ENST00000399878.3	-	6	1258	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	SEL1L3_ENST00000513364.1_5'Flank|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	379						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGTGGTAGCTTTTCAAATC	0.403																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1135-1137)aGc>aAc		sel-1 suppressor of lin-12-like 3 (C. elegans)							132.0	124.0	127.0					4																	25831741		1906	4125	6031	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25831741C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1136G>A	4.37:g.25831741C>T	ENSP00000382767:p.Ser379Asn					SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N	p.S379N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			6	1258	-			379					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1136G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817053	0.16607	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.22336	1.96;1.96;1.96	5.51	3.7	0.42460	.	0.608051	0.19394	N	0.115339	T	0.11793	0.0287	N	0.22421	0.69	0.22903	N	0.998582	B	0.09022	0.002	B	0.04013	0.001	T	0.33879	-0.9851	10	0.16896	T	0.51	-2.3838	6.5098	0.22216	0.0:0.7152:0.1836:0.1012	.	379	Q68CR1	SE1L3_HUMAN	N	379;344;226	ENSP00000382767:S379N;ENSP00000264868:S344N;ENSP00000425438:S226N	ENSP00000264868:S344N	S	-	2	0	SEL1L3	25440839	0.983000	0.35010	0.431000	0.26735	0.319000	0.28217	1.330000	0.33781	0.611000	0.30052	0.655000	0.94253	AGC		0.403	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		16	74	0	0	0	1	0	16	74				
ZNF438	220929	broad.mit.edu	37	10	31138175	31138175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31138175G>A	ENST00000361310.3	-	6	1488	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000375311.1_De_novo_Start_OutOfFrame|ZNF438_ENST00000538351.2_Missense_Mutation_p.R338W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	387					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTACCTTCCGTTTTCTTCCT	0.388																																						ENST00000375311.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35								zinc finger protein 438							110.0	105.0	107.0					10																	31138175		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138175G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1159C>T	10.37:g.31138175G>A	ENSP00000354663:p.Arg387Trp					ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000538351.1_Missense_Mutation_p.R338W|ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W|ZNF438_ENST00000361310.3_Missense_Mutation_p.R387W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W				Q7Z4V0	ZN438_HUMAN			0	664	-		Prostate(175;0.0587)						A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Translation_Start_Site	SNP	ENST00000361310.3	37		CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	6.803	0.517255	0.13005	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.73	1.75	0.24633	.	0.248451	0.45867	N	0.000325	T	0.07188	0.0182	L	0.34521	1.04	0.37336	D	0.910175	P;P	0.41710	0.647;0.76	B;B	0.32533	0.07;0.147	T	0.37865	-0.9687	10	0.42905	T	0.14	-7.1085	4.2712	0.10787	0.2313:0.0:0.3906:0.3781	.	387;377	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	W	377;387;387;387;387;377;377;338;106	ENSP00000333571:R377W;ENSP00000354663:R387W;ENSP00000406934:R387W;ENSP00000412363:R387W;ENSP00000387546:R387W;ENSP00000413060:R377W;ENSP00000410898:R377W;ENSP00000445461:R338W	ENSP00000333571:R377W	R	-	1	2	ZNF438	31178181	0.985000	0.35326	0.003000	0.11579	0.048000	0.14542	2.098000	0.41757	0.063000	0.16370	-0.133000	0.14855	CGG		0.388	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		119	509	0	0	0	1	0	119	509				
NRP1	8829	broad.mit.edu	37	10	33502412	33502412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33502412G>A	ENST00000265371.4	-	10	2041	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	NRP1_ENST00000374875.1_Nonsense_Mutation_p.R325*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*			O14786	NRP1_HUMAN	neuropilin 1	506	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGTTCTCTCGGTGCTTCCCA	0.522																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1516-1518)Cga>Tga		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						230.0	195.0	207.0					10																	33502412		2203	4300	6503	SO:0001587	stop_gained	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33502412G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1516C>T	10.37:g.33502412G>A	ENSP00000265371:p.Arg506*					NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*	p.R506*			O14786	NRP1_HUMAN			10	2041	-			506			F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Nonsense_Mutation	SNP	ENST00000265371.4	37	c.1516C>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	44	10.591483	0.99433	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	.	.	.	5.95	2.72	0.32119	.	0.106857	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.8145	15.4444	0.75216	0.0:0.0:0.368:0.632	.	.	.	.	X	506;325;506;506;506;506;506;506;179	.	ENSP00000265371:R506X	R	-	1	2	NRP1	33542418	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.187000	0.42602	0.688000	0.31529	0.655000	0.94253	CGA		0.522	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			165	730	0	0	0	1	0	165	730				
VARS2	57176	broad.mit.edu	37	6	30890674	30890674	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30890674G>T	ENST00000321897.5	+	22	2738		c.e22-1		VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000476162.1_Splice_Site|VARS2_ENST00000416670.2_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTGGTTGCAGAAAAAGGACT	0.582																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.e22-1		valyl-tRNA synthetase 2, mitochondrial							99.0	106.0	104.0					6																	30890674		1509	2708	4217	SO:0001630	splice_region_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30890674G>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2107-1G>T	6.37:g.30890674G>T						VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000476162.1_Splice_Site				Q5ST30	SYVM_HUMAN			22	2738	+								A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Splice_Site	SNP	ENST00000321897.5	37		CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341551	0.61073	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4273	0.83818	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VARS2	30998653	1.000000	0.71417	0.993000	0.49108	0.745000	0.42441	8.836000	0.92105	2.571000	0.86741	0.561000	0.74099	.		0.582	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	Intron	101	443	1	0	8.98033e-41	1	1.08974e-40	101	443				
LIG4	3981	broad.mit.edu	37	13	108863228	108863228	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108863228T>C	ENST00000356922.4	-	2	661	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C|LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	130					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAACACAAAATATGCAATCAT	0.373								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(388-390)tAt>tGt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							125.0	132.0	130.0					13																	108863228		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863228T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.389A>G	13.37:g.108863228T>C	ENSP00000349393:p.Tyr130Cys					LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C|LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C	p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	661	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		130					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.389A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499143	0.64298	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.17854	2.25;2.25;2.25	5.84	5.84	0.93424	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	P	0.60415	0.874	T	0.23833	-1.0177	10	0.39692	T	0.17	.	15.4025	0.74852	0.0:0.0:0.0:1.0	.	130	P49917	DNLI4_HUMAN	C	130	ENSP00000385955:Y130C;ENSP00000402030:Y130C;ENSP00000349393:Y130C	ENSP00000349393:Y130C	Y	-	2	0	LIG4	107661229	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	7.633000	0.83260	2.232000	0.73038	0.523000	0.50628	TAT		0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		148	571	0	0	0	1	0	148	571				
CABLES1	91768	broad.mit.edu	37	18	20716380	20716380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20716380G>T	ENST00000256925.7	+	1	654	c.654G>T	c.(652-654)caG>caT	p.Q218H	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	218	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAGCGTGCAGGTGCCGGCGG	0.701																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(652-654)caG>caT		Cdk5 and Abl enzyme substrate 1							14.0	18.0	17.0					18																	20716380		1902	4096	5998	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716380G>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.654G>T	18.37:g.20716380G>T	ENSP00000256925:p.Gln218His					CABLES1_ENST00000400473.2_Intron	p.Q218H	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			1	654	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		218			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.654G>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262652	0.39995	.	.	ENSG00000134508	ENST00000256925	T	0.50277	0.75	3.54	1.59	0.23543	.	0.350198	0.29707	N	0.011403	T	0.30386	0.0763	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05818	-1.0862	10	0.29301	T	0.29	-0.8505	10.6056	0.45392	0.0:0.3801:0.6199:0.0	.	218	Q8TDN4	CABL1_HUMAN	H	218	ENSP00000256925:Q218H	ENSP00000256925:Q218H	Q	+	3	2	CABLES1	18970378	0.996000	0.38824	1.000000	0.80357	0.746000	0.42486	0.386000	0.20702	0.264000	0.21851	0.456000	0.33151	CAG		0.701	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		13	68	1	0	1.5842e-08	1	1.65642e-08	13	68				
LRP2	4036	broad.mit.edu	37	2	170058137	170058137	+	Splice_Site	SNP	C	C	T	rs80338748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170058137C>T	ENST00000263816.3	-	44	8738		c.e44+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GATAAACTTACGGCAATTTTT	0.338																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315	GRCh37	CS073498	LRP2	S	rs80338748	c.e44+1		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						105.0	104.0	104.0					2																	170058137		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058137C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8452+1G>A	2.37:g.170058137C>T								NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8738	-								O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37		CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242369	0.95272	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169766383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.701000	0.84566	2.794000	0.96219	0.650000	0.86243	.		0.338	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron	24	303	0	0	0	1	0	24	303				
LRRIQ4	344657	broad.mit.edu	37	3	169548369	169548369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169548369C>A	ENST00000340806.6	+	3	1284	c.1284C>A	c.(1282-1284)tgC>tgA	p.C428*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	428										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTCTTGATTGCCGGCACAATT	0.438																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1282-1284)tgC>tgA		leucine-rich repeats and IQ motif containing 4							76.0	75.0	76.0					3																	169548369		1889	4107	5996	SO:0001587	stop_gained	344657							g.chr3:169548369C>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1284C>A	3.37:g.169548369C>A	ENSP00000342188:p.Cys428*						p.C428*	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			3	1284	+			428						Nonsense_Mutation	SNP	ENST00000340806.6	37	c.1284C>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494819	0.96339	.	.	ENSG00000188306	ENST00000340806	.	.	.	5.69	2.04	0.26737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	7.228	0.26026	0.0:0.5221:0.0:0.4779	.	.	.	.	X	428	.	ENSP00000342188:C428X	C	+	3	2	LRRIQ4	171031063	0.877000	0.30153	0.994000	0.49952	0.959000	0.62525	-0.176000	0.09811	0.547000	0.28938	0.655000	0.94253	TGC		0.438	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		22	113	1	0	2.37509e-13	1	2.56396e-13	22	113				
EPPK1	83481	broad.mit.edu	37	8	144940665	144940665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940665C>T	ENST00000525985.1	-	2	6828	c.6757G>A	c.(6757-6759)Gtg>Atg	p.V2253M				P58107	EPIPL_HUMAN	epiplakin 1	2253						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCAGCACGCCCTTCCAC	0.716																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6757-6759)Gtg>Atg		epiplakin 1							54.0	51.0	52.0					8																	144940665		2182	4261	6443	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940665C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6757G>A	8.37:g.144940665C>T	ENSP00000436337:p.Val2253Met						p.V2253M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6828	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2253					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6757G>A		.	.	.	.	.	.	.	.	.	.	C	16.21	3.058856	0.55325	.	.	ENSG00000227184	ENST00000525985	T	0.73789	-0.78	4.67	-4.14	0.03892	.	.	.	.	.	T	0.70518	0.3233	N	0.17474	0.49	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.63954	-0.6520	9	0.41790	T	0.15	.	9.438	0.38650	0.0:0.162:0.6285:0.2095	.	2253	E9PPU0	.	M	2253	ENSP00000436337:V2253M	ENSP00000436337:V2253M	V	-	1	0	EPPK1	145012653	0.000000	0.05858	0.819000	0.32651	0.999000	0.98932	-1.087000	0.03383	-0.705000	0.05035	0.591000	0.81541	GTG		0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	582	0	0	0	1	0	12	582				
ICE1	23379	broad.mit.edu	37	5	5463617	5463617	+	Silent	SNP	C	C	T	rs542440431		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463617C>T	ENST00000296564.7	+	13	4392	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1390					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTGCGAGGCCGAAACAACAT	0.453																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4168-4170)gcC>gcT		KIAA0947							32.0	33.0	33.0					5																	5463617		1997	4167	6164	SO:0001819	synonymous_variant	23379							g.chr5:5463617C>T																												ENST00000296564.7:c.4170C>T	5.37:g.5463617C>T							p.A1390A	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	4392	+			1390					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.4170C>T	CCDS47187.1																																																																																				0.453	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			17	72	0	0	0	1	0	17	72				
IMPDH1	3614	broad.mit.edu	37	7	128038646	128038646	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128038646T>C	ENST00000480861.1	-	7	703	c.626A>G	c.(625-627)gAt>gGt	p.D209G	IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G|IMPDH1_ENST00000338791.6_Missense_Mutation_p.D299G|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CTCATCGCAATCATTGACGAT	0.547											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(895-897)gAt>gGt		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						74.0	76.0	75.0					7																	128038646		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128038646T>C		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.626A>G	7.37:g.128038646T>C	ENSP00000420185:p.Asp209Gly		OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_ENST00000480861.1_Missense_Mutation_p.D209G|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G	p.D299G	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			10	1246	-			214						Missense_Mutation	SNP	ENST00000480861.1	37	c.896A>G	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786326	0.31593	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.138458	0.64402	D	0.000004	D	0.89853	0.6835	L	0.50847	1.595	0.48830	D	0.999718	B;B;B;B;B;B;B;B	0.15473	0.005;0.001;0.001;0.001;0.004;0.006;0.013;0.001	B;B;B;B;B;B;B;B	0.21151	0.013;0.021;0.014;0.022;0.033;0.008;0.008;0.012	D	0.86034	0.1515	10	0.51188	T	0.08	-16.798	7.8776	0.29603	0.0:0.0913:0.0:0.9087	.	266;209;214;230;289;263;299;189	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	G	266;299;189;289;230;263;189;213;209;230	ENSP00000399400:D266G;ENSP00000345096:D299G;ENSP00000420803:D189G;ENSP00000346219:D289G;ENSP00000367989:D230G;ENSP00000265385:D263G;ENSP00000342438:D189G;ENSP00000417296:D213G;ENSP00000420185:D209G;ENSP00000419609:D230G	ENSP00000345096:D299G	D	-	2	0	IMPDH1	127825882	1.000000	0.71417	0.752000	0.31206	0.134000	0.20937	4.207000	0.58480	2.016000	0.59253	0.533000	0.62120	GAT		0.547	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		87	422	0	0	0	1	0	87	422				
RAB3GAP2	25782	broad.mit.edu	37	1	220384297	220384297	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220384297C>A	ENST00000358951.2	-	5	550	c.434G>T	c.(433-435)aGg>aTg	p.R145M		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	145					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTATCCTTACCTCTTTTGGCT	0.353																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.e5+1		RAB3 GTPase activating protein subunit 2 (non-catalytic)							95.0	99.0	98.0					1																	220384297		2203	4300	6503	SO:0001630	splice_region_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220384297C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.434+1G>T	1.37:g.220384297C>A							p.R145_splice	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	5	550	-			145					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Splice_Site	SNP	ENST00000358951.2	37	c.434_splice	CCDS31028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.675595|4.675595	0.88445|0.88445	.|.	.|.	ENSG00000118873|ENSG00000118873	ENST00000484658|ENST00000358951	.|T	.|0.34859	.|1.34	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46580|0.46580	0.1400|0.1400	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.74674	.|0.98;0.984	T|T	0.34104|0.34104	-0.9842|-0.9842	5|9	.|.	.|.	.|.	.|.	18.5392|18.5392	0.91022|0.91022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;145	.|Q9H2M9-2;Q9H2M9	.|.;RBGPR_HUMAN	D|M	46|145	.|ENSP00000351832:R145M	.|.	E|R	-|-	3|2	2|0	RAB3GAP2|RAB3GAP2	218450920|218450920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.136000|7.136000	0.77285|0.77285	2.559000|2.559000	0.86315|0.86315	0.460000|0.460000	0.39030|0.39030	GAG|AGG		0.353	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	Missense_Mutation	21	129	1	0	3.62473e-10	1	3.83521e-10	21	129				
CDH4	1002	broad.mit.edu	37	20	60498707	60498707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60498707G>A	ENST00000360469.5	+	10	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGGCACCGTGCTGACCAC	0.632																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1573-1575)Gtg>Atg		cadherin 4, type 1, R-cadherin (retinal)							63.0	54.0	57.0					20																	60498707		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60498707G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1573G>A	20.37:g.60498707G>A	ENSP00000353656:p.Val525Met					CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	p.V525M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		10	1661	+			525			Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1573G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238671	0.22711	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.256554	0.39834	N	0.001260	T	0.29620	0.0739	N	0.12637	0.245	0.09310	N	1	P	0.42518	0.782	B	0.39617	0.305	T	0.13845	-1.0494	9	.	.	.	.	13.434	0.61073	0.0:0.1577:0.8423:0.0	.	525	P55283	CADH4_HUMAN	M	525;433;451	ENSP00000353656:V525M;ENSP00000443301:V451M	.	V	+	1	0	CDH4	59932102	0.012000	0.17670	0.742000	0.31022	0.778000	0.44026	2.000000	0.40816	2.162000	0.67917	0.543000	0.68304	GTG		0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		50	150	0	0	0	1	0	50	150				
BRPF3	27154	broad.mit.edu	37	6	36172526	36172526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36172526C>T	ENST00000357641.6	+	3	1793	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	514					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGGCAGGCACGGAATGGTGT	0.512																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1540-1542)Cgg>Tgg		bromodomain and PHD finger containing, 3							118.0	111.0	113.0					6																	36172526		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36172526C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1540C>T	6.37:g.36172526C>T	ENSP00000350267:p.Arg514Trp					BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W	p.R514W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			3	1793	+			514					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1540C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757713	0.49468	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000527657	T;T;T;T;T;T	0.28255	1.88;1.99;1.98;1.99;1.98;1.62	5.43	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.53865	-0.8378	10	0.87932	D	0	.	13.1546	0.59509	0.7058:0.2942:0.0:0.0	.	514;514;514	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	W	514;514;514;514;514;514;60	ENSP00000350267:R514W;ENSP00000345419:R514W;ENSP00000434501:R514W;ENSP00000445352:R514W;ENSP00000387368:R514W;ENSP00000436504:R514W	ENSP00000345419:R514W	R	+	1	2	BRPF3	36280504	0.854000	0.29725	0.992000	0.48379	0.996000	0.88848	1.755000	0.38379	0.588000	0.29660	0.557000	0.71058	CGG		0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		104	570	0	0	0	1	0	104	570				
SHPRH	257218	broad.mit.edu	37	6	146214385	146214385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214385C>T	ENST00000367505.2	-	28	5104	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	SHPRH_ENST00000367503.3_Missense_Mutation_p.A1618T|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1614	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCCCTATGGCCTGAAGCTCA	0.438																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(4852-4854)Gcc>Acc		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							90.0	87.0	88.0					6																	146214385		1858	4099	5957	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146214385C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4840G>A	6.37:g.146214385C>T	ENSP00000356475:p.Ala1614Thr					SHPRH_ENST00000367505.2_Missense_Mutation_p.A1614T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T	p.A1618T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	28	5250	-		Ovarian(120;0.0365)	1614			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.4852G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.550226	0.96501	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.44	5.44	0.79542	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91955	0.7452	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94992	0.8135	10	0.87932	D	0	-12.4244	19.2562	0.93947	0.0:1.0:0.0:0.0	.	1614;1618	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	36;62;1614;1618;1618;1614	ENSP00000403790:A36T;ENSP00000356475:A1614T;ENSP00000356473:A1618T;ENSP00000412797:A1618T;ENSP00000275233:A1614T	ENSP00000275233:A1614T	A	-	1	0	SHPRH	146256078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.549000	0.85964	0.585000	0.79938	GCC		0.438	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		43	184	0	0	0	1	0	43	184				
PPM1N	147699	broad.mit.edu	37	19	46005347	46005347	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46005347C>A	ENST00000451287.2	+	0	1293				PPM1N_ENST00000396737.2_3'UTR|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000456399.2_Missense_Mutation_p.S94R|PPM1N_ENST00000401593.1_Missense_Mutation_p.S104R|PPM1N_ENST00000401705.1_3'UTR|PPM1N_ENST00000396736.2_Missense_Mutation_p.S101R|PPM1N_ENST00000396735.2_3'UTR	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)								magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GGCCTGACAGCTGTTGTCCTT	0.527																																						ENST00000456399.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						c.(280-282)agC>agA		protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)							60.0	62.0	61.0					19																	46005347		1932	4124	6056	SO:0001628	intergenic_variant	147699						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity	g.chr19:46005347C>A	AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397		19.37:g.46005347C>A						PPM1N_ENST00000396736.2_Missense_Mutation_p.S101R|PPM1N_ENST00000401593.1_Missense_Mutation_p.S104R|PPM1N_ENST00000396735.2_3'UTR|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000401705.1_3'UTR|PPM1N_ENST00000396737.2_3'UTR	p.S94R			Q8N819	PPM1N_HUMAN			4	405	+			309			PP2C-like.		Q6P662	Missense_Mutation	SNP	ENST00000451287.2	37	c.282C>A	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974442	0.34848	.	.	ENSG00000213889	ENST00000456399;ENST00000401593;ENST00000396736	.	.	.	3.11	2.08	0.27032	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.20703	N	0.999868	.	.	.	.	.	.	T	0.33497	-0.9866	5	0.62326	D	0.03	.	6.091	0.19995	0.0:0.8589:0.0:0.1411	.	.	.	.	R	94;104;101	.	ENSP00000379962:S101R	S	+	3	2	PPM1N	50697187	0.008000	0.16893	0.184000	0.23157	0.224000	0.24922	1.336000	0.33850	0.883000	0.36040	0.313000	0.20887	AGC		0.527	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401		8	155	1	0	0.00448238	1	0.00451339	8	155				
SPAG11B	10407	broad.mit.edu	37	8	7320352	7320352	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:7320352A>G	ENST00000297498.2	-	2	257	c.91T>C	c.(91-93)Tca>Cca	p.S31P	SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000317900.5_Missense_Mutation_p.S31P|SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	31					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCAGTGGCTGAGTGGTTCACA	0.587																																						ENST00000317900.5																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(91-93)Tca>Cca		sperm associated antigen 11B							79.0	88.0	85.0					8																	7320352		2000	3962	5962	SO:0001583	missense	10407				spermatogenesis	extracellular region		g.chr8:7320352A>G	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.91T>C	8.37:g.7320352A>G	ENSP00000297498:p.Ser31Pro					SPAG11B_ENST00000297498.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P	p.S31P	NM_058203.2	NP_478110.1	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	2	261	-			31					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	37	c.91T>C	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805612	0.31961	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.48201	1.41;0.82;1.41	2.59	-3.59	0.04583	.	.	.	.	.	T	0.48572	0.1507	L	0.36672	1.1	0.09310	N	1	B;B;D;D;D	0.76494	0.001;0.002;0.985;0.981;0.999	B;B;D;D;D	0.83275	0.001;0.003;0.976;0.959;0.996	T	0.40572	-0.9556	9	0.35671	T	0.21	.	4.2386	0.10637	0.2287:0.4068:0.3645:0.0	.	31;31;31;31;31	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	P	14;31;31;31;31;31	ENSP00000437154:S14P;ENSP00000354411:S31P;ENSP00000297498:S31P	ENSP00000297498:S31P	S	-	1	0	SPAG11B	7307762	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.094000	0.15107	-0.747000	0.04759	0.378000	0.23410	TCA		0.587	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		47	454	0	0	0	1	0	47	454				
SLC26A6	65010	broad.mit.edu	37	3	48670685	48670685	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670685C>A	ENST00000395550.2	-	3	368	c.321G>T	c.(319-321)caG>caT	p.Q107H	SLC26A6_ENST00000455886.2_Splice_Site_p.Q107H|SLC26A6_ENST00000383733.3_Splice_Site_p.Q107H|SLC26A6_ENST00000358747.6_Splice_Site_p.Q86H|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107H|SLC26A6_ENST00000420764.2_Splice_Site_p.Q107H|SLC26A6_ENST00000482282.1_5'UTR			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	107					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGGCTCACCCTGCGGAAGCT	0.592																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.e2+1		solute carrier family 26 (anion exchanger), member 6							30.0	36.0	34.0					3																	48670685		2063	4199	6262	SO:0001630	splice_region_variant	65010							g.chr3:48670685C>A	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.322+1G>T	3.37:g.48670685C>A						SLC26A6_ENST00000383733.3_Splice_Site_p.Q107_splice|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107_splice|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000395550.2_Splice_Site_p.Q107_splice|SLC26A6_ENST00000455886.2_Splice_Site_p.Q107_splice|SLC26A6_ENST00000420764.2_Splice_Site_p.Q107_splice	p.Q86_splice	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	2	508	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Splice_Site	SNP	ENST00000395550.2	37	c.259_splice	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816124	0.70912	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.95238	-3.17;-3.17;-3.17;-3.65;-3.17;-3.17;-3.17;-3.17	4.84	2.06	0.26882	.	.	.	.	.	D	0.97558	0.9200	H	0.95043	3.615	0.39669	D	0.970724	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	0.999;0.999;1.0;1.0;1.0;0.999	D	0.96489	0.9362	9	0.87932	D	0	.	8.4616	0.32931	0.0:0.6957:0.0:0.3043	.	107;107;107;107;107;3501	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	H	107;107;107;107;107;86;107;107;107	ENSP00000404684:Q107H;ENSP00000378920:Q107H;ENSP00000373239:Q107H;ENSP00000337648:Q107H;ENSP00000351597:Q86H;ENSP00000401066:Q107H;ENSP00000401813:Q107H;ENSP00000405872:Q107H	ENSP00000307089:Q107H	Q	-	3	2	SLC26A6	48645689	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.877000	0.28106	0.245000	0.21373	0.655000	0.94253	CAG		0.592	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911	Missense_Mutation	21	79	1	0	0.000132079	1	0.000134276	21	79				
SMTN	6525	broad.mit.edu	37	22	31484712	31484712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484712C>T	ENST00000347557.2	+	5	540	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_ENST00000358743.1_Missense_Mutation_p.R108C|SMTN_ENST00000333137.7_Missense_Mutation_p.R108C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	108					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTATGAGGAGCGCAAGCTGAT	0.642																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(322-324)Cgc>Tgc		smoothelin							67.0	56.0	60.0					22																	31484712		2201	4300	6501	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484712C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.322C>T	22.37:g.31484712C>T	ENSP00000328635:p.Arg108Cys					SMTN_ENST00000347557.2_Missense_Mutation_p.R108C|SMTN_ENST00000358743.1_Missense_Mutation_p.R108C	p.R108C	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			5	540	+			108					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.322C>T	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.233178|4.233178	0.79688|0.79688	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000438223|ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481	.|T;T;T;T;T	.|0.73152	.|-0.72;-0.72;-0.72;-0.72;-0.72	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.38272	.|N	.|0.001743	T|T	0.72835|0.72835	0.3510|0.3510	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|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	.|0.91635	.|0.999;0.999;0.997;0.999;0.999;0.999	T|T	0.71159|0.71159	-0.4674|-0.4674	5|9	.|.	.|.	.|.	-15.9456|-15.9456	13.2377|13.2377	0.59979|0.59979	0.1589:0.8411:0.0:0.0|0.1589:0.8411:0.0:0.0	.|.	.|164;162;100;108;108;108	.|E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.|.;.;.;.;SMTN_HUMAN;.	V|C	162|108;108;108;108;100;20;100	.|ENSP00000351593:R108C;ENSP00000328635:R108C;ENSP00000329532:R108C;ENSP00000409990:R20C;ENSP00000394637:R100C	.|.	A|R	+|+	2|1	0|0	SMTN|SMTN	29814712|29814712	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	2.703000|2.703000	0.47110|0.47110	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.642	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		28	94	0	0	0	1	0	28	94				
CXXC4	80319	broad.mit.edu	37	4	105412215	105412215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:105412215G>A	ENST00000426831.1	-	1	252	c.238C>T	c.(238-240)Cca>Tca	p.P80S	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.P249S|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	80					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ATGACCCCTGGAGGTAATGAG	0.577																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(745-747)Cca>Tca		CXXC finger protein 4							82.0	91.0	88.0					4																	105412215		2203	4300	6503	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412215G>A		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.238C>T	4.37:g.105412215G>A	ENSP00000412267:p.Pro80Ser					CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.P80S|AC004053.1_ENST00000500179.1_RNA	p.P249S	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1195	-			80						Missense_Mutation	SNP	ENST00000426831.1	37	c.745C>T		.	.	.	.	.	.	.	.	.	.	G	17.96	3.517068	0.64634	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.52	4.52	0.55395	.	0.379473	0.08080	U	1.000000	T	0.56187	0.1968	N	0.08118	0	0.54753	D	0.999983	D	0.63880	0.993	D	0.70227	0.968	T	0.56643	-0.7945	9	0.45353	T	0.12	-5.7325	15.454	0.75299	0.0:0.0:1.0:0.0	.	80	Q9H2H0	CXXC4_HUMAN	S	80	.	ENSP00000378248:P80S	P	-	1	0	CXXC4	105631664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.567000	0.90737	2.241000	0.73720	0.479000	0.44913	CCA		0.577	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		27	603	0	0	0	1	0	27	603				
ZNF195	7748	broad.mit.edu	37	11	3380552	3380552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380552G>A	ENST00000399602.4	-	6	1812	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	ZNF195_ENST00000429541.2_Silent_p.F494F|ZNF195_ENST00000526601.1_Silent_p.F543F|ZNF195_ENST00000005082.9_Silent_p.F539F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Silent_p.F490F|ZNF195_ENST00000343338.7_Silent_p.F494F	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAATGTCTGAGAACCACATGA	0.393																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1468-1470)ttC>ttT		zinc finger protein 195							116.0	118.0	118.0					11																	3380552		2065	4232	6297	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380552G>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1686C>T	11.37:g.3380552G>A						ZNF195_ENST00000005082.9_Silent_p.F539F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.F494F|ZNF195_ENST00000399602.4_Silent_p.F562F|ZNF195_ENST00000526601.1_Silent_p.F543F|ZNF195_ENST00000429541.2_Silent_p.F494F	p.F490F	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1574	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	562					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1470C>T	CCDS44522.1																																																																																				0.393	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			98	404	0	0	0	1	0	98	404				
RUVBL2	10856	broad.mit.edu	37	19	49510577	49510577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510577C>T	ENST00000595090.1	+	6	878	c.414C>T	c.(412-414)atC>atT	p.I138I	RUVBL2_ENST00000413176.2_Silent_p.I93I|RUVBL2_ENST00000601968.1_Silent_p.I93I	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	138					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGAGATCATCGAAGGGGAGG	0.582																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(277-279)atC>atT		RuvB-like AAA ATPase 2							103.0	113.0	110.0					19																	49510577		2087	4213	6300	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49510577C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.414C>T	19.37:g.49510577C>T						RUVBL2_ENST00000601968.1_Silent_p.I93I|RUVBL2_ENST00000595090.1_Silent_p.I138I	p.I93I			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	6	1427	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	138					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.279C>T	CCDS42588.1																																																																																				0.582	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			28	279	0	0	0	1	0	28	279				
KIT	3815	broad.mit.edu	37	4	55602902	55602902	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55602902C>A	ENST00000288135.5	+	19	2709	c.2612C>A	c.(2611-2613)cCt>cAt	p.P871H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	871	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCCTATCCTGGAATGCCG	0.458		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2611-2613)cCt>cAt		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						102.0	99.0	100.0					4																	55602902		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602902C>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2612C>A	4.37:g.55602902C>A	ENSP00000288135:p.Pro871His						p.P871H	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	19	2709	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		871			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2612C>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454276	0.63290	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.90164	0.6926	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90602	0.4545	10	0.87932	D	0	.	19.6056	0.95580	0.0:1.0:0.0:0.0	.	867;871	P10721-2;P10721	.;KIT_HUMAN	H	871;867	ENSP00000288135:P871H;ENSP00000390987:P867H	ENSP00000288135:P871H	P	+	2	0	KIT	55297659	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	5.943000	0.70211	2.625000	0.88918	0.655000	0.94253	CCT		0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			70	328	1	0	1.71382e-40	1	2.07847e-40	70	328				
NLRX1	79671	broad.mit.edu	37	11	119045222	119045222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045222G>A	ENST00000409109.1	+	6	1497	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	NLRX1_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	304	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAAGTACGTGGGCCGCTATGG	0.572																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(910-912)Ggc>Agc		NLR family member X1							142.0	143.0	143.0					11																	119045222		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045222G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.910G>A	11.37:g.119045222G>A	ENSP00000387334:p.Gly304Ser					NLRX1_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S	p.G304S			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1497	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	304			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.910G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.507986	0.64410	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	N	0.04724	-0.175	0.45704	D	0.998615	D;D	0.89917	1.0;0.966	D;P	0.91635	0.999;0.625	T	0.73665	-0.3911	10	0.14656	T	0.56	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	304;304	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	304	ENSP00000386851:G304S;ENSP00000292199:G304S;ENSP00000386858:G304S;ENSP00000387334:G304S;ENSP00000433442:G304S	ENSP00000292199:G304S	G	+	1	0	NLRX1	118550432	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.171000	0.64996	2.884000	0.98904	0.655000	0.94253	GGC		0.572	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		19	931	0	0	0	1	0	19	931				
COBLL1	22837	broad.mit.edu	37	2	165551408	165551408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165551408C>T	ENST00000392717.2	-	13	2726	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N	COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D832N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTGCCAGTGTCTCTTGTCATT	0.448																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2494-2496)Gac>Aac		cordon-bleu WH2 repeat protein-like 1							94.0	90.0	92.0					2																	165551408		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551408C>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2722G>A	2.37:g.165551408C>T	ENSP00000376478:p.Asp908Asn					COBLL1_ENST00000392717.2_Missense_Mutation_p.D908N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N	p.D832N	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2715	-			908					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2494G>A		.	.	.	.	.	.	.	.	.	.	C	12.15	1.850455	0.32699	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	4.28	0.50868	.	0.246856	0.36234	N	0.002708	T	0.50188	0.1601	L	0.60455	1.87	0.09310	N	0.999998	P;P;D	0.69078	0.834;0.834;0.997	B;B;D	0.64410	0.265;0.265;0.925	T	0.41106	-0.9527	9	0.31617	T	0.26	-9.929	4.2721	0.10792	0.2381:0.5568:0.1268:0.0783	.	908;937;870	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	832;870;870;908;937	.	ENSP00000194871:D937N	D	-	1	0	COBLL1	165259654	0.071000	0.21146	0.476000	0.27291	0.111000	0.19643	0.565000	0.23578	1.607000	0.50170	-0.211000	0.12701	GAC		0.448	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		84	476	0	0	0	1	0	84	476				
ANGEL2	90806	broad.mit.edu	37	1	213186643	213186643	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213186643T>C	ENST00000366962.3	-	2	331	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	59										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GAGAGTAATGTCCAGGCCACC	0.463																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(175-177)ggA>ggG		angel homolog 2 (Drosophila)							162.0	156.0	158.0					1																	213186643		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213186643T>C	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.177A>G	1.37:g.213186643T>C						ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron	p.G59G	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	331	-			59					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.177A>G	CCDS1512.1																																																																																				0.463	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		74	778	0	0	0	1	0	74	778				
NR3C1	2908	broad.mit.edu	37	5	142693707	142693707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142693707G>T	ENST00000343796.2	-	3	2204	c.1211C>A	c.(1210-1212)tCt>tAt	p.S404Y	NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000504336.1_5'UTR	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	404	Glu/Pro/Ser/Thr-rich (PEST region).|Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GGATGGAGGAGAGCTTACATC	0.448																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1210-1212)tCt>tAt		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						170.0	153.0	159.0					5																	142693707		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142693707G>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1211C>A	5.37:g.142693707G>T	ENSP00000343205:p.Ser404Tyr					NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000504336.1_5'UTR	p.S404Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2204	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	404			Glu/Pro/Ser/Thr-rich (PEST region).|Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.1211C>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456715	0.84317	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.86230	-1.68;-1.68;-1.63;-1.73;-1.68;-1.68;-1.68;-2.09;-1.68	5.72	5.72	0.89469	.	0.119693	0.64402	D	0.000013	D	0.91835	0.7416	L	0.48877	1.53	0.46336	D	0.998995	D;D;D	0.71674	0.994;0.998;0.993	P;D;P	0.78314	0.825;0.991;0.866	D	0.91925	0.5550	10	0.66056	D	0.02	.	19.8658	0.96803	0.0:0.0:1.0:0.0	.	404;404;404	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	Y	404;404;404;404;378;404;404;404;7;404	ENSP00000377977:S404Y;ENSP00000343205:S404Y;ENSP00000387672:S404Y;ENSP00000405282:S378Y;ENSP00000422518:S404Y;ENSP00000377979:S404Y;ENSP00000231509:S404Y;ENSP00000404218:S7Y;ENSP00000427672:S404Y	ENSP00000231509:S404Y	S	-	2	0	NR3C1	142673900	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.363000	0.73082	2.696000	0.92011	0.650000	0.86243	TCT		0.448	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			39	159	1	0	2.19358e-23	1	2.49351e-23	39	159				
PROM2	150696	broad.mit.edu	37	2	95945719	95945719	+	Silent	SNP	C	C	T	rs140258551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95945719C>T	ENST00000317620.9	+	11	1534	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	PROM2_ENST00000542147.1_Silent_p.G467G|PROM2_ENST00000403131.2_Silent_p.G467G|PROM2_ENST00000317668.4_Silent_p.G467G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	467					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.G467G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGCCAAGGGCGAGGCTGGAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18303	0.0		0.0	False		,,,				2504	0.001					ENST00000317620.9																			1	Substitution - coding silent(1)	p.G467G(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1399-1401)ggC>ggT		prominin 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	56.0	48.0	51.0		1401,1401,1401	3.5	1.0	2	dbSNP_134	51	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	,,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,,	467/835,467/835,467/835	95945719	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95945719C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1401C>T	2.37:g.95945719C>T						PROM2_ENST00000403131.2_Silent_p.G467G|PROM2_ENST00000542147.1_Silent_p.G467G|PROM2_ENST00000317668.4_Silent_p.G467G	p.G467G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			11	1534	+			467					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.1401C>T	CCDS2012.1																																																																																				0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		61	238	0	0	0	1	0	61	238				
SFRP1	6422	broad.mit.edu	37	8	41122786	41122786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41122786G>A	ENST00000220772.3	-	3	1182	c.845C>T	c.(844-846)aCg>aTg	p.T282M	SFRP1_ENST00000379845.3_Missense_Mutation_p.T146M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	282	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GTGGATGGCCGTCAGCAAGTA	0.498																																						ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(844-846)aCg>aTg		secreted frizzled-related protein 1							126.0	107.0	113.0					8																	41122786		2203	4300	6503	SO:0001583	missense	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41122786G>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.845C>T	8.37:g.41122786G>A	ENSP00000220772:p.Thr282Met					SFRP1_ENST00000379845.3_Missense_Mutation_p.T146M	p.T282M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		3	1182	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	282			NTR.		O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	37	c.845C>T	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255938	0.80135	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.27557	1.66;1.66	4.7	4.7	0.59300	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.57536	1.79	0.80722	D	1	P	0.42757	0.789	B	0.41332	0.354	T	0.17258	-1.0375	10	0.41790	T	0.15	.	16.8129	0.85725	0.0:0.0:1.0:0.0	.	282	Q8N474	SFRP1_HUMAN	M	282;146;282	ENSP00000220772:T282M;ENSP00000369174:T146M	ENSP00000220772:T282M	T	-	2	0	SFRP1	41241943	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	5.449000	0.66619	2.444000	0.82710	0.563000	0.77884	ACG		0.498	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		85	303	0	0	0	1	0	85	303				
TRAPPC9	83696	broad.mit.edu	37	8	141461131	141461131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141461131C>T	ENST00000438773.2	-	2	475	c.342G>A	c.(340-342)cgG>cgA	p.R114R	TRAPPC9_ENST00000389327.3_Silent_p.R114R|TRAPPC9_ENST00000389328.4_Silent_p.R212R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	114					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGACAAAGAGCCGGGAGTCAT	0.582																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(634-636)cgG>cgA		trafficking protein particle complex 9							69.0	64.0	66.0					8																	141461131		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461131C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.342G>A	8.37:g.141461131C>T						TRAPPC9_ENST00000438773.2_Silent_p.R114R|TRAPPC9_ENST00000389327.3_Silent_p.R114R	p.R212R	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			2	650	-			114					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.636G>A	CCDS55278.1																																																																																				0.582	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		67	276	0	0	0	1	0	67	276				
SPSB4	92369	broad.mit.edu	37	3	140785540	140785540	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785540C>T	ENST00000310546.2	+	2	1338	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	198	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGTACCTGGGCGTGGCCTTCC	0.632																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(592-594)ggC>ggT		splA/ryanodine receptor domain and SOCS box containing 4							58.0	53.0	55.0					3																	140785540		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785540C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.594C>T	3.37:g.140785540C>T							p.G198G	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1338	+			198			B30.2/SPRY.			Silent	SNP	ENST00000310546.2	37	c.594C>T	CCDS3115.1																																																																																				0.632	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		28	183	0	0	0	1	0	28	183				
GPHN	10243	broad.mit.edu	37	14	67610094	67610094	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67610094C>T	ENST00000315266.5	+	17	2786	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	GPHN_ENST00000305960.9_Silent_p.L524L|GPHN_ENST00000478722.1_Silent_p.L588L|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.L601L	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	555	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGACTTACTCAATGCCTTGA	0.393			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1762-1764)ctC>ctT		gephyrin							219.0	221.0	220.0					14																	67610094		2203	4300	6503	SO:0001819	synonymous_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67610094C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1665C>T	14.37:g.67610094C>T						GPHN_ENST00000315266.5_Silent_p.L555L|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.L524L|GPHN_ENST00000543237.1_Silent_p.L601L	p.L588L	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	18	2885	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	555			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	c.1764C>T	CCDS32103.1																																																																																				0.393	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		10	617	0	0	0	1	0	10	617				
TSPAN11	441631	broad.mit.edu	37	12	31136041	31136041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31136041C>A	ENST00000261177.9	+	7	717	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	220						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCCGACCACCTGCTGCTTAT	0.662																																						ENST00000261177.9																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11						c.(658-660)Ctg>Atg		tetraspanin 11							34.0	31.0	32.0					12																	31136041		2203	4300	6503	SO:0001583	missense	441631					integral to membrane		g.chr12:31136041C>A		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.658C>A	12.37:g.31136041C>A	ENSP00000261177:p.Leu220Met					TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M	p.L220M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN			7	717	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		220					A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	c.658C>A	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433800	0.43224	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	3.32	2.42	0.29668	Tetraspanin, EC2 domain (1);	0.210787	0.30051	U	0.010522	D	0.86138	0.5861	M	0.75150	2.29	0.39744	D	0.971792	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.83375	0.0009	10	0.30078	T	0.28	.	8.4767	0.33018	0.0:0.878:0.0:0.122	.	210;220	F5H0F0;A1L157	.;TSN11_HUMAN	M	220;149;210;220	ENSP00000437403:L220M;ENSP00000445503:L149M;ENSP00000439895:L210M;ENSP00000261177:L220M	ENSP00000261177:L220M	L	+	1	2	TSPAN11	31027308	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.296000	0.59055	0.701000	0.31803	0.467000	0.42956	CTG		0.662	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		28	109	1	0	3.99451e-17	1	4.40333e-17	28	109				
ZNF260	339324	broad.mit.edu	37	19	37005025	37005025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005025G>T	ENST00000523638.1	-	3	2237	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L|ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	372					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CAAGGGTTGAGAACTGAGAAA	0.423																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(1114-1116)ttC>ttA		zinc finger protein 260							120.0	109.0	112.0					19																	37005025		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005025G>T	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1116C>A	19.37:g.37005025G>T	ENSP00000429803:p.Phe372Leu					ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L|ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L	p.F372L	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	2237	-	Esophageal squamous(110;0.162)		372					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.1116C>A	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	G	5.310	0.242476	0.10077	.	.	ENSG00000254004	ENST00000523638	T	0.59083	0.29	4.17	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	N	0.03294	-0.36	0.09310	N	0.999996	B	0.34015	0.435	B	0.32393	0.145	T	0.07028	-1.0794	9	0.20046	T	0.44	.	11.7824	0.52021	0.0:0.1799:0.8201:0.0	.	372	Q3ZCT1	ZN260_HUMAN	L	372	ENSP00000429803:F372L	ENSP00000429803:F372L	F	-	3	2	ZNF260	41696865	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-2.041000	0.01415	2.286000	0.76751	0.561000	0.74099	TTC		0.423	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		97	445	1	0	4.00701e-44	1	4.89994e-44	97	445				
DEFA6	1671	broad.mit.edu	37	8	6783502	6783502	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783502G>T	ENST00000297436.2	-	1	96	c.56C>A	c.(55-57)gCt>gAt	p.A19D	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	19					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGTGGCTCAGCCTTGGCCTG	0.597																																						ENST00000297436.2																			0				lung(4)	4						c.(55-57)gCt>gAt		defensin, alpha 6, Paneth cell-specific							56.0	45.0	49.0					8																	6783502		2203	4300	6503	SO:0001583	missense	1671				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6783502G>T	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"""Defensins, alpha"""	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.56C>A	8.37:g.6783502G>T	ENSP00000297436:p.Ala19Asp						p.A19D	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	96	-			19					Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	37	c.56C>A	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	8.184	0.794401	0.16327	.	.	ENSG00000164822	ENST00000297436	T	0.69926	-0.44	1.75	0.848	0.18966	Defensin propeptide (1);	0.209200	0.24020	N	0.042300	T	0.76933	0.4057	M	0.83012	2.62	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.64681	-0.6350	10	0.87932	D	0	.	4.0486	0.09785	0.2223:0.0:0.7777:0.0	.	19	Q01524	DEF6_HUMAN	D	19	ENSP00000297436:A19D	ENSP00000297436:A19D	A	-	2	0	DEFA6	6770912	0.056000	0.20664	0.010000	0.14722	0.095000	0.18619	1.088000	0.30877	0.313000	0.23062	0.561000	0.74099	GCT		0.597	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		17	75	1	0	4.96729e-08	1	5.17613e-08	17	75				
IMMT	10989	broad.mit.edu	37	2	86371725	86371725	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86371725A>G	ENST00000410111.3	-	15	2330	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000254636.5_Missense_Mutation_p.I549T|IMMT_ENST00000409051.2_Missense_Mutation_p.I601T|IMMT_ENST00000449247.2_Missense_Mutation_p.I637T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	648					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTTCATCAATCATTGCTAC	0.532																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1942-1944)aTt>aCt		inner membrane protein, mitochondrial							125.0	121.0	122.0					2																	86371725		1887	4114	6001	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86371725A>G	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1943T>C	2.37:g.86371725A>G	ENSP00000387262:p.Ile648Thr					IMMT_ENST00000254636.5_Missense_Mutation_p.I549T|IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000449247.2_Missense_Mutation_p.I637T|IMMT_ENST00000409051.2_Missense_Mutation_p.I601T	p.I648T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			15	2330	-			648					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1943T>C	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894088	0.52121	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.39	4.24	0.50183	.	0.094982	0.64402	N	0.000001	T	0.58779	0.2146	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.994;0.995;0.991;0.982;0.995	T	0.62685	-0.6802	10	0.87932	D	0	-7.5923	11.2772	0.49174	0.9289:0.0:0.0711:0.0	.	601;636;637;616;648	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891	.;.;.;.;IMMT_HUMAN	T	549;637;648;647;601;637;616;262;549	ENSP00000254636:I549T;ENSP00000396899:I637T;ENSP00000387262:I648T;ENSP00000407788:I647T;ENSP00000387227:I601T	ENSP00000254636:I549T	I	-	2	0	IMMT	86225236	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	9.139000	0.94554	1.075000	0.40932	0.529000	0.55759	ATT		0.532	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		93	539	0	0	0	1	0	93	539				
LSM14A	26065	broad.mit.edu	37	19	34663663	34663663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34663663C>T	ENST00000433627.5	+	1	191	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LSM14A_ENST00000540746.2_Missense_Mutation_p.A39V|LSM14A_ENST00000544216.3_Missense_Mutation_p.A39V	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	39					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTAGCCCTTGCCAAAGGTACG	0.687																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(115-117)gCc>gTc		LSM14A, SCD6 homolog A (S. cerevisiae)							54.0	50.0	51.0					19																	34663663		2202	4300	6502	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34663663C>T	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.116C>T	19.37:g.34663663C>T	ENSP00000413964:p.Ala39Val					LSM14A_ENST00000540746.2_Missense_Mutation_p.A39V|LSM14A_ENST00000433627.5_Missense_Mutation_p.A39V	p.A39V	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			1	193	+	Esophageal squamous(110;0.162)		39					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.116C>T	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181813	0.94885	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.35236	1.32;1.33;1.4	4.75	4.75	0.60458	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.107342	0.64402	D	0.000006	T	0.61502	0.2352	M	0.84846	2.72	0.80722	D	1	D;B;P	0.57571	0.98;0.089;0.889	P;B;P	0.60541	0.876;0.187;0.731	T	0.66602	-0.5882	10	0.42905	T	0.14	-5.5106	17.3421	0.87299	0.0:1.0:0.0:0.0	.	39;39;39	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	V	39	ENSP00000446271:A39V;ENSP00000413964:A39V;ENSP00000446451:A39V	ENSP00000314768:A39V	A	+	2	0	LSM14A	39355503	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.225000	0.78051	2.171000	0.68590	0.484000	0.47621	GCC		0.687	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		17	94	0	0	0	1	0	17	94				
MGLL	11343	broad.mit.edu	37	3	127500698	127500698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127500698C>T	ENST00000434178.2	-	3	1062	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	MGLL_ENST00000453507.2_Missense_Mutation_p.G66S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S|MGLL_ENST00000398104.1_Missense_Mutation_p.G56S			Q99685	MGLL_HUMAN	monoglyceride lipase	56					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCATAGCGGCCACTGTGCTCT	0.642																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(166-168)Ggc>Agc		monoglyceride lipase							51.0	54.0	53.0					3																	127500698		2056	4206	6262	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127500698C>T	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.166G>A	3.37:g.127500698C>T	ENSP00000402798:p.Gly56Ser					MGLL_ENST00000453507.2_Missense_Mutation_p.G66S|MGLL_ENST00000398104.1_Missense_Mutation_p.G56S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S	p.G56S			Q99685	MGLL_HUMAN			3	1062	-			56					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.166G>A	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474237	0.84640	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000494830	T;T;T;T	0.66460	-0.21;-0.21;-0.21;0.98	5.19	5.19	0.71726	.	0.049669	0.85682	D	0.000000	T	0.78515	0.4295	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.64830	0.994;0.982;0.99;0.994	D;D;D;D	0.70716	0.966;0.945;0.97;0.968	T	0.79647	-0.1716	10	0.56958	D	0.05	-9.3992	14.2186	0.65809	0.0:1.0:0.0:0.0	.	66;56;56;66	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	S	56;66;56;66;66;56	ENSP00000402798:G56S;ENSP00000265052:G66S;ENSP00000381176:G56S;ENSP00000417489:G56S	ENSP00000265052:G66S	G	-	1	0	MGLL	128983388	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	6.278000	0.72614	2.411000	0.81874	0.467000	0.42956	GGC		0.642	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		10	385	0	0	0	1	0	10	385				
CLN3	1201	broad.mit.edu	37	16	28493652	28493652	+	Missense_Mutation	SNP	G	G	A	rs386833741		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28493652G>A	ENST00000569430.1	-	14	1777	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	CLN3_ENST00000359984.7_Missense_Mutation_p.R320C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000333496.9_Missense_Mutation_p.R296C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	320					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTTACCAGCGGTATTGCTGA	0.617																																						ENST00000569430.1																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(958-960)Cgc>Tgc		ceroid-lipofuscinosis, neuronal 3							45.0	33.0	37.0					16																	28493652		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28493652G>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.958C>T	16.37:g.28493652G>A	ENSP00000454229:p.Arg320Cys					CLN3_ENST00000333496.9_Missense_Mutation_p.R296C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C|CLN3_ENST00000359984.7_Missense_Mutation_p.R320C	p.R320C			Q13286	CLN3_HUMAN			14	1777	-			320					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.958C>T	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	g	19.98	3.926431	0.73327	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;T;D	0.94138	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;-3.36	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.88640	2.97	0.49130	D	0.99975	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.997;1.0;0.998;1.0	D	0.97495	1.0056	10	0.59425	D	0.04	.	16.6881	0.85315	0.0:0.0:1.0:0.0	.	296;303;218;220;266;272;320;221	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	C	242;320;320;303;272;266;220;221;210	ENSP00000443221:R242C;ENSP00000353073:R320C;ENSP00000353116:R320C;ENSP00000346650:R303C;ENSP00000347660:R272C;ENSP00000350523:R266C;ENSP00000379014:R220C;ENSP00000350457:R221C;ENSP00000349586:R210C	ENSP00000346650:R303C	R	-	1	0	CLN3	28401153	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.748000	0.85085	2.547000	0.85894	0.486000	0.48141	CGC		0.617	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			31	121	0	0	0	1	0	31	121				
C2	717	broad.mit.edu	37	6	31905129	31905129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31905129C>T	ENST00000299367.5	+	8	1298	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	CFB_ENST00000456570.1_Missense_Mutation_p.A188V|C2_ENST00000452323.2_Missense_Mutation_p.A127V|CFB_ENST00000556679.1_Missense_Mutation_p.A188V|C2_ENST00000469372.1_Missense_Mutation_p.A95V|C2_ENST00000442278.2_Missense_Mutation_p.A209V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	341	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AACACCTATGCGGCCTTAAAC	0.478																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(562-564)gCg>gTg		complement factor B							179.0	174.0	176.0					6																	31905129		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31905129C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1022C>T	6.37:g.31905129C>T	ENSP00000299367:p.Ala341Val					C2_ENST00000469372.1_Missense_Mutation_p.A95V|C2_ENST00000299367.5_Missense_Mutation_p.A341V|C2_ENST00000442278.2_Missense_Mutation_p.A209V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V|CFB_ENST00000556679.1_Missense_Mutation_p.A188V|C2_ENST00000452323.2_Missense_Mutation_p.A127V	p.A188V			P00751	CFAB_HUMAN			5	618	+			357			Sushi 3.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.563C>T	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.06|11.06	1.527494|1.527494	0.27299|0.27299	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	D;D;D;D;D;D;D;D|.	0.84370|.	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84|.	4.97|4.97	-0.3|-0.3	0.12804|0.12804	von Willebrand factor, type A (3);|.	1.092690|.	0.07188|.	N|.	0.855182|.	T|T	0.18173|0.18173	0.0436|0.0436	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	P;B;B;B;B;B;B;B|.	0.35363|.	0.497;0.21;0.103;0.028;0.094;0.094;0.031;0.103|.	B;B;B;B;B;B;B;B|.	0.28139|.	0.036;0.008;0.012;0.007;0.012;0.012;0.086;0.005|.	T|T	0.28586|0.28586	-1.0039|-1.0039	10|5	0.46703|.	T|.	0.11|.	-4.707|-4.707	6.1284|6.1284	0.20192|0.20192	0.376:0.4561:0.168:0.0|0.376:0.4561:0.168:0.0	.|.	188;312;127;95;209;209;341;128|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;CO2_HUMAN;.|.	V|W	95;128;128;127;341;26;209;188;188;159|115	ENSP00000418923:A95V;ENSP00000417482:A128V;ENSP00000392322:A127V;ENSP00000299367:A341V;ENSP00000395683:A209V;ENSP00000451848:A188V;ENSP00000410815:A188V;ENSP00000418996:A159V|.	ENSP00000299367:A341V|.	A|R	+|+	2|1	0|2	CFB;C2;XXbac-BPG116M5.17|C2	32013108|32013108	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.055000|0.055000	0.15305|0.15305	0.018000|0.018000	0.13422|0.13422	0.073000|0.073000	0.16731|0.16731	-0.433000|-0.433000	0.05886|0.05886	GCG|CGG		0.478	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			91	510	0	0	0	1	0	91	510				
TNPO2	30000	broad.mit.edu	37	19	12812936	12812936	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12812936G>A	ENST00000592287.1	-	21	2469	c.2361C>T	c.(2359-2361)taC>taT	p.Y787Y	TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y|TNPO2_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000588216.1_Silent_p.Y777Y|TNPO2_ENST00000425528.1_Silent_p.Y787Y	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	787					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGGCACACGTAGCCCAAGC	0.677																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2359-2361)taC>taT		transportin 2							36.0	45.0	42.0					19																	12812936		2158	4236	6394	SO:0001819	synonymous_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12812936G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2361C>T	19.37:g.12812936G>A						TNPO2_ENST00000592287.1_Silent_p.Y787Y|TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y|TNPO2_ENST00000588216.1_Silent_p.Y777Y	p.Y787Y			O14787	TNPO2_HUMAN			22	2718	-			787					O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	c.2361C>T	CCDS45991.1																																																																																				0.677	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		42	173	0	0	0	1	0	42	173				
OR5P3	120066	broad.mit.edu	37	11	7846775	7846775	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7846775T>G	ENST00000328375.1	-	1	744	c.745A>C	c.(745-747)Act>Cct	p.T249P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGAACAGAGTGACTGCAGTG	0.507																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(745-747)Act>Cct		olfactory receptor, family 5, subfamily P, member 3							141.0	122.0	128.0					11																	7846775		2190	4296	6486	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7846775T>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.745A>C	11.37:g.7846775T>G	ENSP00000332068:p.Thr249Pro					RP11-35J10.5_ENST00000527565.1_lincRNA	p.T249P	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	744	-			249					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.745A>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483494	0.63962	.	.	ENSG00000182334	ENST00000328375	T	0.39997	1.05	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.73148	0.3550	H	0.95224	3.64	0.27285	N	0.958003	D	0.76494	0.999	D	0.77004	0.989	T	0.73059	-0.4102	10	0.72032	D	0.01	-24.1436	12.9161	0.58207	0.0:0.0:0.0:1.0	.	249	Q8WZ94	OR5P3_HUMAN	P	249	ENSP00000332068:T249P	ENSP00000332068:T249P	T	-	1	0	OR5P3	7803351	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.443000	0.21644	2.147000	0.66899	0.528000	0.53228	ACT		0.507	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		65	328	0	0	0	1	0	65	328				
FTH1P3	2498	broad.mit.edu	37	5	17354438	17354438	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17354438G>T	ENST00000511821.1	+	0	297				FTH1P10_ENST00000401830.3_RNA																							GGTAAACGCAGGAGGCGTAGA	0.542																																						ENST00000511821.1																			0																																																			0							g.chr5:17354438G>T																													5.37:g.17354438G>T						FTH1P10_ENST00000401830.3_RNA								0	297	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.542	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			54	85	1	0	2.29192e-23	1	2.60423e-23	54	85				
ACTA1	58	broad.mit.edu	37	1	229568761	229568761	+	Silent	SNP	C	C	T	rs147303135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568761C>T	ENST00000366684.3	-	2	204	c.102G>A	c.(100-102)ccG>ccA	p.P34P	ACTA1_ENST00000366683.2_Silent_p.P34P	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	34					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CCACGATGGACGGGAACACGG	0.721																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(100-102)ccG>ccA		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)	C		0,4404		0,0,2202	28.0	31.0	30.0		102	-9.4	0.1	1	dbSNP_134	30	1,8595		0,1,4297	no	coding-synonymous	ACTA1	NM_001100.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		34/378	229568761	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568761C>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.102G>A	1.37:g.229568761C>T						ACTA1_ENST00000366683.2_Silent_p.P34P	p.P34P	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			2	204	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	34					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.102G>A	CCDS1578.1																																																																																				0.721	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		103	281	0	0	0	1	0	103	281				
ZBTB2	57621	broad.mit.edu	37	6	151687214	151687214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687214G>A	ENST00000325144.4	-	3	1127	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GCTGCCCATCGATGATGGGAG	0.567																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(985-987)atC>atT		zinc finger and BTB domain containing 2							115.0	107.0	110.0					6																	151687214		2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687214G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.987C>T	6.37:g.151687214G>A							p.I329I	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1127	-			329					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.987C>T	CCDS5231.1																																																																																				0.567	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		81	392	0	0	0	1	0	81	392				
OTX1	5013	broad.mit.edu	37	2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63281286C>T	ENST00000282549.2	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(202-204)Cgg>Tgg		orthodenticle homeobox 1							82.0	81.0	82.0					2																	63281286		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63281286C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.202C>T	2.37:g.63281286C>T	ENSP00000282549:p.Arg68Trp					OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			4	478	+	Lung NSC(7;0.121)|all_lung(7;0.211)		68					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.202C>T	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791066	0.70452	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.97505	-4.41;-4.41	5.09	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98005	1.0362	10	0.87932	D	0	.	14.0454	0.64702	0.151:0.849:0.0:0.0	.	68	P32242	OTX1_HUMAN	W	68	ENSP00000355631:R68W;ENSP00000282549:R68W	ENSP00000282549:R68W	R	+	1	2	OTX1	63134790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.230000	0.42999	2.638000	0.89438	0.655000	0.94253	CGG		0.662	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			113	481	0	0	0	1	0	113	481				
DHX8	1659	broad.mit.edu	37	17	41585306	41585306	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41585306C>T	ENST00000262415.3	+	15	2311	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	DHX8_ENST00000540306.1_Silent_p.L747L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	747					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGTGGAAATACTGTACACAAA	0.428																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2239-2241)Ctg>Ttg		DEAH (Asp-Glu-Ala-His) box polypeptide 8							105.0	97.0	100.0					17																	41585306		2203	4300	6503	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41585306C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2239C>T	17.37:g.41585306C>T						DHX8_ENST00000540306.1_Silent_p.L747L	p.L747L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	15	2311	+		Breast(137;0.00908)	747						Silent	SNP	ENST00000262415.3	37	c.2239C>T	CCDS11464.1																																																																																				0.428	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			106	463	0	0	0	1	0	106	463				
CNOT6L	246175	broad.mit.edu	37	4	78650044	78650044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650044C>T	ENST00000504123.1	-	10	1346	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	406	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCACATAGCACCAGCGGGATG	0.428																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1216-1218)Gtg>Atg		CCR4-NOT transcription complex, subunit 6-like							120.0	117.0	118.0					4																	78650044		1881	4113	5994	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650044C>T	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1216G>A	4.37:g.78650044C>T	ENSP00000424896:p.Val406Met					CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M	p.V406M			Q96LI5	CNO6L_HUMAN			10	1346	-			406					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1216G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.368717|4.368717	0.82463|0.82463	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|D;D;D;D	.|0.96073	.|-3.9;-3.9;-3.9;-3.9	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97642|0.97642	0.9227|0.9227	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	.|D;P	.|0.65815	.|0.995;0.884	.|D;P	.|0.69654	.|0.965;0.696	D|D	0.98104|0.98104	1.0416|1.0416	5|10	.|0.87932	.|D	.|0	-3.4006|-3.4006	19.5255|19.5255	0.95203|0.95203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379;406	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	D|M	434|406;406;413;181	.|ENSP00000424896:V406M;ENSP00000264903:V406M;ENSP00000425571:V413M;ENSP00000426320:V181M	.|ENSP00000264903:V406M	G|V	-|-	2|1	0|0	CNOT6L|CNOT6L	78869068|78869068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.999000|5.999000	0.70665|0.70665	2.627000|2.627000	0.88993|0.88993	0.563000|0.563000	0.77884|0.77884	GGT|GTG		0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			87	515	0	0	0	1	0	87	515				
PRKACG	5568	broad.mit.edu	37	9	71628475	71628475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628475C>A	ENST00000377276.2	-	1	564	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGTAGCCCTGCTGGTCGA	0.632																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(532-534)caG>caT		protein kinase, cAMP-dependent, catalytic, gamma							41.0	40.0	40.0					9																	71628475		2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628475C>A	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.534G>T	9.37:g.71628475C>A	ENSP00000366488:p.Gln178His						p.Q178H	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	564	-			178			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.534G>T	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	2.585	-0.296432	0.05532	.	.	ENSG00000165059	ENST00000377276	T	0.07908	3.15	1.6	-3.21	0.05140	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29964	U	0.010749	T	0.03477	0.0100	N	0.22421	0.69	0.25935	N	0.982946	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.21014	T	0.42	.	1.4287	0.02328	0.2056:0.4383:0.203:0.1532	.	178	P22612	KAPCG_HUMAN	H	178	ENSP00000366488:Q178H	ENSP00000366488:Q178H	Q	-	3	2	PRKACG	70818295	0.005000	0.15991	0.000000	0.03702	0.007000	0.05969	-2.528000	0.00945	-1.501000	0.01817	-0.373000	0.07131	CAG		0.632	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			37	112	1	0	3.93418e-24	1	4.48831e-24	37	112				
DYSF	8291	broad.mit.edu	37	2	71825816	71825816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71825816G>A	ENST00000258104.3	+	33	3920	c.3643G>A	c.(3643-3645)Gcc>Acc	p.A1215T	DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T|DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1215	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGCGAGCCGGCCACAGTTGC	0.592																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3643-3645)Gcc>Acc		dysferlin							79.0	77.0	78.0					2																	71825816		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71825816G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3643G>A	2.37:g.71825816G>A	ENSP00000258104:p.Ala1215Thr					DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T	p.A1215T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			33	3920	+			1215			C2 4.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3643G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573708	0.28092	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.66	1.54	0.23209	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.929726	0.09356	N	0.813410	T	0.68274	0.2983	N	0.26130	0.795	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16802	0.015;0.015;0.002;0.015;0.004;0.004;0.004;0.002;0.015;0.001;0.001;0.009;0.015;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.25759	0.038;0.038;0.009;0.038;0.038;0.038;0.038;0.038;0.038;0.009;0.009;0.038;0.038;0.063	T	0.54899	-0.8224	10	0.27785	T	0.31	-4.3415	7.2742	0.26275	0.1531:0.2606:0.5864:0.0	.	1247;1233;1216;1202;1233;1202;1232;1201;1246;1232;1215;1201;1216;1215	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	T	1246;1232;1232;1215;1215;1247;1216;1202;1216;1233;1233	ENSP00000407046:A1246T;ENSP00000387137:A1232T;ENSP00000386547:A1232T;ENSP00000398305:A1215T;ENSP00000258104:A1215T;ENSP00000386683:A1247T;ENSP00000377678:A1216T;ENSP00000386285:A1202T;ENSP00000386512:A1216T;ENSP00000386881:A1233T;ENSP00000386617:A1233T	ENSP00000258104:A1215T	A	+	1	0	DYSF	71679324	0.050000	0.20438	0.039000	0.18376	0.359000	0.29487	0.816000	0.27267	0.749000	0.32854	0.655000	0.94253	GCC		0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		11	328	0	0	0	1	0	11	328				
PACSIN1	29993	broad.mit.edu	37	6	34499506	34499506	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34499506C>T	ENST00000538621.1	+	9	1412	c.1167C>T	c.(1165-1167)cgC>cgT	p.R389R	PACSIN1_ENST00000244458.2_Silent_p.R389R|PACSIN1_ENST00000374043.2_Silent_p.R347R	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	389	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGCGCGTGCGGGCAC	0.657																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(1165-1167)cgC>cgT		protein kinase C and casein kinase substrate in neurons 1							89.0	96.0	94.0					6																	34499506		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis		protein kinase activity	g.chr6:34499506C>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1167C>T	6.37:g.34499506C>T						PACSIN1_ENST00000374043.2_Silent_p.R347R|PACSIN1_ENST00000244458.2_Silent_p.R389R	p.R389R	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			9	1412	+			389			SH3.		Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.1167C>T	CCDS4793.1																																																																																				0.657	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			206	897	0	0	0	1	0	206	897				
P4HA3	283208	broad.mit.edu	37	11	73980723	73980723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73980723C>T	ENST00000331597.4	-	11	1486	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	481	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTGAGGTTGGCATAGATGAAG	0.582																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(1441-1443)Gcc>Acc		prolyl 4-hydroxylase, alpha polypeptide III							102.0	84.0	90.0					11																	73980723		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:73980723C>T	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1441G>A	11.37:g.73980723C>T	ENSP00000332170:p.Ala481Thr					P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	p.A481T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			11	1486	-	Breast(11;2.31e-05)		481			Fe2OG dioxygenase.		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.1441G>A	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693484	0.48202	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.59083	1.59;0.29	5.25	4.33	0.51752	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.096594	0.64402	D	0.000001	T	0.70369	0.3216	M	0.63169	1.94	0.44728	D	0.997721	D;B	0.69078	0.997;0.136	D;B	0.65323	0.934;0.142	T	0.72883	-0.4157	10	0.54805	T	0.06	-8.3059	13.6279	0.62178	0.0:0.8435:0.1565:0.0	.	481;481	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	T	481	ENSP00000332170:A481T;ENSP00000401749:A481T	ENSP00000332170:A481T	A	-	1	0	P4HA3	73658371	1.000000	0.71417	0.993000	0.49108	0.410000	0.31052	4.766000	0.62279	1.445000	0.47624	-0.175000	0.13238	GCC		0.582	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		38	294	0	0	0	1	0	38	294				
RIMBP2	23504	broad.mit.edu	37	12	130919324	130919324	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919324G>A	ENST00000261655.4	-	11	2320	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	RIMBP2_ENST00000535703.1_Silent_p.G627G|RIMBP2_ENST00000536002.1_Silent_p.G627G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	719					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACCGAGGCGCCCCTCCTCT	0.642																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2155-2157)ggC>ggT		RIMS binding protein 2							72.0	79.0	76.0					12																	130919324		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919324G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2157C>T	12.37:g.130919324G>A						RIMBP2_ENST00000535703.1_Silent_p.G627G|RIMBP2_ENST00000536002.1_Silent_p.G627G	p.G719G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2320	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	719					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2157C>T	CCDS31925.1																																																																																				0.642	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		38	637	0	0	0	1	0	38	637				
OR11L1	391189	broad.mit.edu	37	1	248004781	248004781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004781G>A	ENST00000355784.2	-	1	473	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	140						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGGCACAGAGCCCACGATGC	0.602																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(418-420)Ctc>Ttc		olfactory receptor, family 11, subfamily L, member 1							55.0	52.0	53.0					1																	248004781		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004781G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.418C>T	1.37:g.248004781G>A	ENSP00000348033:p.Leu140Phe						p.L140F	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	473	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		140						Missense_Mutation	SNP	ENST00000355784.2	37	c.418C>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	4.231	0.041828	0.08196	.	.	ENSG00000197591	ENST00000355784	T	0.00227	8.5	4.42	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	0.993514	0.08150	N	0.990229	T	0.00109	0.0003	N	0.20530	0.585	0.09310	N	1	B	0.15141	0.012	B	0.21151	0.033	T	0.19418	-1.0306	10	0.59425	D	0.04	.	6.4674	0.21990	0.1077:0.5241:0.2248:0.1434	.	140	Q8NGX0	O11L1_HUMAN	F	140	ENSP00000348033:L140F	ENSP00000348033:L140F	L	-	1	0	OR11L1	246071404	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.775000	0.01783	-1.397000	0.02068	-1.233000	0.01565	CTC		0.602	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		9	395	0	0	0	1	0	9	395				
MGRN1	23295	broad.mit.edu	37	16	4732890	4732890	+	Silent	SNP	C	C	T	rs61734738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4732890C>T	ENST00000399577.5	+	14	1518	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	MGRN1_ENST00000586183.1_Silent_p.D453D|MGRN1_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000588994.1_Silent_p.D453D|MGRN1_ENST00000262370.7_Silent_p.D475D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	475					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGGACGTGGACGCCCCTCCCC	0.701																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1423-1425)gaC>gaT		mahogunin ring finger 1, E3 ubiquitin protein ligase		C	,,,	2,3910		0,2,1954	31.0	33.0	33.0		1359,1425,1359,1425	-10.0	0.0	16	dbSNP_129	33	2,8278		0,2,4138	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,4,6092	TT,TC,CC		0.0242,0.0511,0.0328	,,,	453/555,475/553,453/531,475/577	4732890	4,12188	1956	4140	6096	SO:0001819	synonymous_variant	0				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4732890C>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1425C>T	16.37:g.4732890C>T						MGRN1_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000586183.1_Silent_p.D453D|MGRN1_ENST00000262370.7_Silent_p.D475D|MGRN1_ENST00000588994.1_Silent_p.D453D	p.D475D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			14	1518	+			475					A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	c.1425C>T	CCDS45402.1																																																																																				0.701	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			27	111	0	0	0	1	0	27	111				
ZNF202	7753	broad.mit.edu	37	11	123598907	123598907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123598907G>A	ENST00000529691.1	-	5	985	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF202_ENST00000336139.4_Missense_Mutation_p.P256S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S			O95125	ZN202_HUMAN	zinc finger protein 202	256	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTCTGTGTTGGGTCCAGATCA	0.428																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(766-768)Cca>Tca		zinc finger protein 202							123.0	112.0	116.0					11																	123598907		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123598907G>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.766C>T	11.37:g.123598907G>A	ENSP00000433881:p.Pro256Ser					ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S|ZNF202_ENST00000529691.1_Missense_Mutation_p.P256S	p.P256S			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	6	1128	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	256			KRAB.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.766C>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828829	0.71258	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.02280	4.36;4.36;4.36	5.11	5.11	0.69529	Krueppel-associated box (4);	0.000000	0.47852	D	0.000214	T	0.08133	0.0203	L	0.52364	1.645	0.37552	D	0.91871	D	0.89917	1.0	D	0.72982	0.979	T	0.18366	-1.0339	10	0.44086	T	0.13	-13.3373	11.8553	0.52433	0.0:0.1767:0.8232:0.0	.	256	O95125	ZN202_HUMAN	S	256	ENSP00000337724:P256S;ENSP00000432504:P256S;ENSP00000433881:P256S	ENSP00000337724:P256S	P	-	1	0	ZNF202	123104117	0.791000	0.28800	0.997000	0.53966	0.977000	0.68977	1.793000	0.38764	2.382000	0.81193	0.561000	0.74099	CCA		0.428	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		66	297	0	0	0	1	0	66	297				
CCDC116	164592	broad.mit.edu	37	22	21988516	21988516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21988516C>T	ENST00000292779.3	+	3	439	c.278C>T	c.(277-279)gCg>gTg	p.A93V	CCDC116_ENST00000607942.1_Missense_Mutation_p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	93								p.A93V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTGGAGAAGGCGACTGAGCGC	0.622																																						ENST00000292779.3																			1	Substitution - Missense(1)	p.A93V(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(277-279)gCg>gTg		coiled-coil domain containing 116							116.0	104.0	108.0					22																	21988516		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21988516C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.278C>T	22.37:g.21988516C>T	ENSP00000292779:p.Ala93Val						p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			3	439	+	Colorectal(54;0.105)		93					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.278C>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839446	0.71488	.	.	ENSG00000161180	ENST00000292779	T	0.21932	1.98	4.55	4.55	0.56014	.	0.276192	0.25783	N	0.028334	T	0.37489	0.1005	L	0.47190	1.495	0.20563	N	0.999887	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06588	-1.0818	9	.	.	.	-82.0264	12.9811	0.58564	0.0:1.0:0.0:0.0	.	93;93	B7Z7H5;Q8IYX3-2	.;.	V	93	ENSP00000292779:A93V	.	A	+	2	0	CCDC116	20318516	0.954000	0.32549	0.325000	0.25375	0.617000	0.37484	3.713000	0.54882	2.521000	0.84997	0.585000	0.79938	GCG		0.622	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		81	409	0	0	0	1	0	81	409				
HAUS5	23354	broad.mit.edu	37	19	36113851	36113851	+	Missense_Mutation	SNP	C	C	T	rs372249287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36113851C>T	ENST00000203166.5	+	19	1883	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	620					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GTGGCGGCTGCGCTGGGTTCA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		13892	0.001		0.0	False		,,,				2504	0.0					ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1858-1860)Cgc>Tgc		HAUS augmin-like complex, subunit 5		C	CYS/ARG	1,3711		0,1,1855	26.0	29.0	28.0		1858	5.1	1.0	19		28	0,8152		0,0,4076	no	missense	HAUS5	NM_015302.1	180	0,1,5931	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging	620/634	36113851	1,11863	1856	4076	5932	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113851C>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1858C>T	19.37:g.36113851C>T	ENSP00000439056:p.Arg620Cys					HAUS5_ENST00000379045.2_3'UTR	p.R620C	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			19	1883	+			620					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1858C>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.027513	0.54683	2.69E-4	0.0	ENSG00000249115	ENST00000203166	T	0.38560	1.13	5.09	5.09	0.68999	.	0.058422	0.64402	D	0.000005	T	0.61602	0.2360	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.64732	-0.6338	10	0.87932	D	0	-17.7701	13.8634	0.63574	0.0:1.0:0.0:0.0	.	620	O94927	HAUS5_HUMAN	C	620	ENSP00000439056:R620C	ENSP00000439056:R620C	R	+	1	0	HAUS5	40805691	1.000000	0.71417	0.995000	0.50966	0.069000	0.16628	2.329000	0.43876	2.659000	0.90383	0.596000	0.82720	CGC		0.657	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			81	355	0	0	0	1	0	81	355				
CHD3	1107	broad.mit.edu	37	17	7814233	7814233	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7814233G>A	ENST00000330494.7	+	39	5973	c.5823G>A	c.(5821-5823)ggG>ggA	p.G1941G	CHD3_ENST00000380358.4_Silent_p.G2000G|AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_Silent_p.G1907G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1941	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCGTAGGGGCCCTGGCCG	0.642																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5998-6000)ggG>ggA		chromodomain helicase DNA binding protein 3							59.0	68.0	65.0					17																	7814233		2202	4298	6500	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7814233G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5823G>A	17.37:g.7814233G>A						CHD3_ENST00000358181.4_Silent_p.G1907G|CHD3_ENST00000330494.7_Silent_p.G1941G	p.G2000G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			39	6001	+		Prostate(122;0.202)	1941					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.6000G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	g	16.12	3.032915	0.54790	.	.	ENSG00000170004	ENST00000439235;ENST00000449744	.	.	.	5.27	5.27	0.74061	.	0.000000	0.43919	D	0.000514	T	0.73916	0.3648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75263	-0.3379	6	0.56958	D	0.05	-28.7992	14.888	0.70584	0.0:0.0:0.8478:0.1522	.	.	.	.	S	285;179	.	ENSP00000395252:G285S	G	+	1	0	CHD3	7754958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.149000	0.31626	2.745000	0.94114	0.604000	0.83254	GGC		0.642	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		70	1016	0	0	0	1	0	70	1016				
UHRF1	29128	broad.mit.edu	37	19	4950688	4950688	+	RNA	SNP	G	G	A	rs377699288		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4950688G>A	ENST00000592666.1	+	0	2159							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R541Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AAGGACTGGCGGTCGGGGAAG	0.607																																						ENST00000592666.1																			2	Substitution - Missense(2)	p.R541Q(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1		G	GLN/ARG,GLN/ARG	0,3872		0,0,1936	20.0	25.0	24.0		1583,1622	4.8	0.9	19		24	1,8195		0,1,4097	no	missense,missense	UHRF1	NM_001048201.1,NM_013282.3	43,43	0,1,6033	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	528/794,541/807	4950688	1,12067	1936	4098	6034			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4950688G>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4950688G>A										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	2159	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	G	20.6	4.025035	0.75390	0.0	1.22E-4	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.84	4.84	0.62591	SRA-YDG (4);	0.056632	0.64402	D	0.000002	T	0.75133	0.3808	L	0.49640	1.575	0.43000	D	0.994518	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.524	T	0.76170	-0.3057	8	0.49607	T	0.09	-27.198	17.9546	0.89064	0.0:0.0:1.0:0.0	.	541;528	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Q	528;143;528;528;541	.	ENSP00000262952:R528Q	R	+	2	0	UHRF1	4901688	1.000000	0.71417	0.886000	0.34754	0.920000	0.55202	5.265000	0.65519	2.248000	0.74166	0.555000	0.69702	CGG		0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		39	158	0	0	0	1	0	39	158				
ZNF202	7753	broad.mit.edu	37	11	123601239	123601239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123601239G>T	ENST00000529691.1	-	2	577	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	ZNF202_ENST00000336139.4_Missense_Mutation_p.L120M|ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M			O95125	ZN202_HUMAN	zinc finger protein 202	120	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCCTCCACCAGCGTCACTGCC	0.582																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(358-360)Ctg>Atg		zinc finger protein 202							113.0	104.0	107.0					11																	123601239		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601239G>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.358C>A	11.37:g.123601239G>T	ENSP00000433881:p.Leu120Met					ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M|ZNF202_ENST00000529691.1_Missense_Mutation_p.L120M	p.L120M			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	720	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	120			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.358C>A	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279525	0.59758	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.57	3.66	0.41972	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.37304	N	0.002147	T	0.19725	0.0474	L	0.48174	1.505	0.33660	D	0.609537	D	0.76494	0.999	D	0.91635	0.999	T	0.14587	-1.0467	10	0.59425	D	0.04	-12.847	10.1465	0.42767	0.0971:0.0:0.9029:0.0	.	120	O95125	ZN202_HUMAN	M	120	ENSP00000337724:L120M;ENSP00000432504:L120M;ENSP00000433881:L120M;ENSP00000431223:L120M	ENSP00000337724:L120M	L	-	1	2	ZNF202	123106449	0.945000	0.32115	0.997000	0.53966	0.913000	0.54294	1.429000	0.34903	1.146000	0.42352	0.455000	0.32223	CTG		0.582	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		115	563	1	0	1.37143e-49	1	1.69657e-49	115	563				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162280	33162280	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33162280G>A	ENST00000510327.1	-	0	346																											AGCCAGCGCCGAGCGATGGGC	0.488																																						ENST00000510327.1																			0																																																			0							g.chr5:33162280G>A																													5.37:g.33162280G>A														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.488	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			48	200	0	0	0	1	0	48	200				
PLCG2	5336	broad.mit.edu	37	16	81972512	81972512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81972512C>T	ENST00000359376.3	+	29	3519	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1102	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCAAGACGACGGTTGTGAGT	0.512																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3304-3306)aCg>aTg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							113.0	108.0	110.0					16																	81972512		1955	4160	6115	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81972512C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3305C>T	16.37:g.81972512C>T	ENSP00000352336:p.Thr1102Met						p.T1102M	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			29	3519	+			1102			C2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.3305C>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282341	0.23392	.	.	ENSG00000197943	ENST00000359376	T	0.69806	-0.43	5.39	5.39	0.77823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.309400	0.38959	N	0.001501	T	0.63522	0.2518	M	0.75447	2.3	0.09310	N	0.999994	P	0.34934	0.476	B	0.27887	0.084	T	0.64795	-0.6323	10	0.59425	D	0.04	.	12.4855	0.55871	0.0:0.9236:0.0:0.0764	.	1102	P16885	PLCG2_HUMAN	M	1102	ENSP00000352336:T1102M	ENSP00000352336:T1102M	T	+	2	0	PLCG2	80530013	0.233000	0.23772	0.582000	0.28627	0.660000	0.38997	1.732000	0.38146	2.517000	0.84864	0.561000	0.74099	ACG		0.512	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			18	86	0	0	0	1	0	18	86				
CACNA1D	776	broad.mit.edu	37	3	53837449	53837449	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53837449G>A	ENST00000350061.5	+	44	5946		c.e44-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000288139.4_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCAACTGCAGGTCCGACTCA	0.597																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.e45-1		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						109.0	109.0	109.0					3																	53837449		2203	4300	6503	SO:0001630	splice_region_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53837449G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5436-1G>A	3.37:g.53837449G>A						CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	45	5613	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37		CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056143	0.76074	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1563	0.81670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53812489	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	8.308000	0.89966	2.318000	0.78349	0.637000	0.83480	.		0.597	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Intron	133	511	0	0	0	1	0	133	511				
CADM1	23705	broad.mit.edu	37	11	115088668	115088668	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115088668G>A	ENST00000452722.3	-	6	785	c.765C>T	c.(763-765)ggC>ggT	p.G255G	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.G255G|CADM1_ENST00000536727.1_Silent_p.G255G|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000542447.2_Silent_p.G255G	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCCGGGTTAAGCCTTGTAGAG	0.453																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(763-765)ggC>ggT		cell adhesion molecule 1							152.0	129.0	137.0					11																	115088668		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115088668G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.765C>T	11.37:g.115088668G>A						CADM1_ENST00000452722.2_Silent_p.G255G|CADM1_ENST00000537058.1_Silent_p.G255G|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000536727.1_Silent_p.G255G	p.G255G	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	6	893	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	255			Ig-like C2-type 2.			Silent	SNP	ENST00000452722.3	37	c.765C>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908549	0.17833	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.70413	0.3221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68727	-0.5332	4	.	.	.	.	14.1468	0.65355	0.0:0.1493:0.8507:0.0	.	.	.	.	F	254	.	.	L	-	1	0	CADM1	114593878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.791000	0.47829	2.593000	0.87608	0.655000	0.94253	CTT		0.453	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		52	231	0	0	0	1	0	52	231				
ADAM12	8038	broad.mit.edu	37	10	127806713	127806713	+	Missense_Mutation	SNP	G	G	A	rs181811173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127806713G>A	ENST00000368679.4	-	6	815	c.506C>T	c.(505-507)gCg>gTg	p.A169V	ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	169					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGCTTCTTCGCTGGGAAGAG	0.438													g|||	1	0.000199681	0.0	0.0	5008	,	,		18340	0.001		0.0	False		,,,				2504	0.0					ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(505-507)gCg>gTg		ADAM metallopeptidase domain 12							155.0	135.0	142.0					10																	127806713		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127806713G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.506C>T	10.37:g.127806713G>A	ENSP00000357668:p.Ala169Val					ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	p.A169V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	6	815	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	169					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.506C>T	CCDS7653.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	8.805	0.933822	0.18206	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21191	4.79;2.02;3.73	5.03	-1.72	0.08107	.	0.447781	0.22012	N	0.065856	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.29627	0.164;0.252;0.252;0.252;0.095	B;B;B;B;B	0.24394	0.024;0.053;0.053;0.053;0.016	T	0.32481	-0.9905	10	0.13853	T	0.58	.	2.4903	0.04608	0.3193:0.1111:0.4559:0.1137	.	166;166;169;166;169	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	169;169;166	ENSP00000357668:A169V;ENSP00000357665:A169V;ENSP00000391268:A166V	ENSP00000357665:A169V	A	-	2	0	ADAM12	127796703	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.068000	0.14531	-0.872000	0.04037	-1.731000	0.00696	GCG		0.438	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			36	418	0	0	0	1	0	36	418				
TAGAP	117289	broad.mit.edu	37	6	159456869	159456869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456869G>A	ENST00000367066.3	-	10	2517	c.2186C>T	c.(2185-2187)tCg>tTg	p.S729L	TAGAP_ENST00000326965.6_Missense_Mutation_p.S551L|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	729					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTAAATATACGATTCTTTGGC	0.468																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(2185-2187)tCg>tTg		T-cell activation RhoGTPase activating protein							65.0	58.0	61.0					6																	159456869		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159456869G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2186C>T	6.37:g.159456869G>A	ENSP00000356033:p.Ser729Leu					TAGAP_ENST00000326965.6_Missense_Mutation_p.S551L|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	p.S729L	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2517	-		Breast(66;0.000776)|Ovarian(120;0.0303)	729					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.2186C>T	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337066	0.81801	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.52526	0.66;0.81	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	P	0.62089	0.898	T	0.67185	-0.5734	10	0.87932	D	0	-37.4518	19.9804	0.97323	0.0:0.0:1.0:0.0	.	729	Q8N103	TAGAP_HUMAN	L	729;551	ENSP00000356033:S729L;ENSP00000322650:S551L	ENSP00000322650:S551L	S	-	2	0	TAGAP	159376857	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	8.479000	0.90431	2.825000	0.97269	0.655000	0.94253	TCG		0.468	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		50	211	0	0	0	1	0	50	211				
DISP2	85455	broad.mit.edu	37	15	40662041	40662041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40662041G>A	ENST00000267889.3	+	8	3815	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1243					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTGGCCCCAGCCCCAAAACC	0.682																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(3727-3729)aGc>aAc		dispatched homolog 2 (Drosophila)							15.0	17.0	16.0					15																	40662041		2201	4291	6492	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40662041G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3728G>A	15.37:g.40662041G>A	ENSP00000267889:p.Ser1243Asn						p.S1243N	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3815	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1243					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.3728G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	8.297	0.818993	0.16607	.	.	ENSG00000140323	ENST00000267889	T	0.11821	2.74	5.3	1.31	0.21738	.	0.708449	0.15445	N	0.261977	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40664	-0.9551	10	0.19590	T	0.45	-9.9672	6.7334	0.23395	0.2686:0.2421:0.4894:0.0	.	1243	A7MBM2	DISP2_HUMAN	N	1243	ENSP00000267889:S1243N	ENSP00000267889:S1243N	S	+	2	0	DISP2	38449333	0.996000	0.38824	0.972000	0.41901	0.937000	0.57800	1.217000	0.32455	0.439000	0.26476	0.561000	0.74099	AGC		0.682	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		35	157	0	0	0	1	0	35	157				
CCDC175	729665	broad.mit.edu	37	14	59970602	59970602	+	IGR	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59970602A>C	ENST00000537690.2	-	0	2616				JKAMP_ENST00000425728.2_Silent_p.R244R|JKAMP_ENST00000261247.9_Silent_p.R250R|JKAMP_ENST00000554271.1_Silent_p.R264R|JKAMP_ENST00000356057.5_Silent_p.R258R|RP11-701B16.2_ENST00000554253.1_RNA	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175																		CAGAAAGAAAAGACTTATTGT	0.353																																						ENST00000554271.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(790-792)Aga>Cga		JNK1/MAPK8-associated membrane protein							120.0	113.0	115.0					14																	59970602		1812	4082	5894	SO:0001628	intergenic_variant	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59970602A>C		CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221			14.37:g.59970602A>C						JKAMP_ENST00000261247.9_Silent_p.R250R|JKAMP_ENST00000356057.5_Silent_p.R258R|JKAMP_ENST00000425728.2_Silent_p.R244R|RP11-701B16.2_ENST00000554253.1_RNA	p.R264R			Q9P055	JKAMP_HUMAN			7	1316	+			265					G3V5J7	Silent	SNP	ENST00000537690.2	37	c.790A>C	CCDS53898.1																																																																																				0.353	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471273.1	NM_001164399		72	308	0	0	0	1	0	72	308				
FNIP1	96459	broad.mit.edu	37	5	131066680	131066680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131066680T>C	ENST00000510461.1	-	3	366	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	FNIP1_ENST00000307954.8_Intron|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000307968.7_Missense_Mutation_p.K91E	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	91					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCTCCAGGTTTCAGTTGGCAG	0.373																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(271-273)Aaa>Gaa		folliculin interacting protein 1							94.0	92.0	93.0					5																	131066680		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131066680T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.271A>G	5.37:g.131066680T>C	ENSP00000421985:p.Lys91Glu					FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000510461.1_Missense_Mutation_p.K91E|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Intron	p.K91E	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	3	270	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.271A>G	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877420	0.51801	.	.	ENSG00000217128	ENST00000307968;ENST00000510461;ENST00000511848	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	.	.	.	.	.	T	0.31295	0.0792	L	0.29908	0.895	0.42460	D	0.992788	B;P;B	0.41848	0.25;0.763;0.336	B;B;B	0.36464	0.117;0.225;0.138	T	0.09207	-1.0685	9	0.30854	T	0.27	-6.0328	15.4806	0.75524	0.0:0.0:0.0:1.0	.	91;91;91	Q8TF40-2;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	E	91	ENSP00000309266:K91E;ENSP00000421985:K91E;ENSP00000425619:K91E	ENSP00000309266:K91E	K	-	1	0	FNIP1	131094579	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.769000	0.68865	2.124000	0.65301	0.533000	0.62120	AAA		0.373	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		67	295	0	0	0	1	0	67	295				
PHC3	80012	broad.mit.edu	37	3	169890386	169890386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169890386G>A	ENST00000494943.1	-	3	327	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y|PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000495893.2_Missense_Mutation_p.H99Y			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	87					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGCTTAAATGCTGCTGCTGA	0.468																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(259-261)Cat>Tat		polyhomeotic homolog 3 (Drosophila)							74.0	73.0	73.0					3																	169890386		1923	4134	6057	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169890386G>A		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.259C>T	3.37:g.169890386G>A	ENSP00000420271:p.His87Tyr					PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y|PHC3_ENST00000495893.1_Missense_Mutation_p.H99Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y	p.H87Y			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		3	327	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		87					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.259C>T		.	.	.	.	.	.	.	.	.	.	G	14.93	2.682923	0.47991	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.46451	0.87;0.89	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.64962	0.2646	M	0.69358	2.11	0.58432	D	0.99999	D;D;D;D;D;P;D;D	0.67145	0.989;0.989;0.981;0.989;0.996;0.908;0.989;0.989	D;D;D;D;D;D;D;D	0.78314	0.969;0.979;0.954;0.979;0.991;0.922;0.979;0.979	T	0.62006	-0.6945	9	.	.	.	-12.3087	19.8505	0.96738	0.0:0.0:1.0:0.0	.	99;99;87;99;95;83;99;99	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	Y	87;99;99;99;99;99;83;99;99;95	ENSP00000420271:H87Y;ENSP00000420294:H99Y	.	H	-	1	0	PHC3	171373080	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	8.893000	0.92498	2.688000	0.91661	0.655000	0.94253	CAT		0.468	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		71	250	0	0	0	1	0	71	250				
PPRC1	23082	broad.mit.edu	37	10	103900616	103900616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103900616A>C	ENST00000278070.2	+	5	2390	c.2351A>C	c.(2350-2352)gAg>gCg	p.E784A	PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	784	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCCTTCCAGAGACTCCCACA	0.567																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2350-2352)gAg>gCg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							85.0	91.0	89.0					10																	103900616		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900616A>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2351A>C	10.37:g.103900616A>C	ENSP00000278070:p.Glu784Ala					PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A	p.E784A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2390	+		Colorectal(252;0.122)	784			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2351A>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869727	0.51588	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.36520	1.34;1.25	5.41	4.21	0.49690	.	0.278437	0.31071	N	0.008315	T	0.44350	0.1289	L	0.34521	1.04	0.39246	D	0.963949	D;D;D	0.65815	0.991;0.995;0.991	P;D;P	0.64144	0.876;0.922;0.838	T	0.41752	-0.9491	10	0.46703	T	0.11	.	12.1932	0.54282	0.8725:0.0:0.0:0.1275	.	784;664;784	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	A	784	ENSP00000278070:E784A;ENSP00000399743:E784A	ENSP00000278070:E784A	E	+	2	0	PPRC1	103890606	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.134000	0.64770	2.184000	0.69523	0.459000	0.35465	GAG		0.567	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		115	426	0	0	0	1	0	115	426				
PTPRZ1	5803	broad.mit.edu	37	7	121659225	121659225	+	Missense_Mutation	SNP	T	T	G	rs201869096		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121659225T>G	ENST00000393386.2	+	13	5302	c.4891T>G	c.(4891-4893)Ttg>Gtg	p.L1631V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L771V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1631					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGCTGAGGGGTTGGAATCCGA	0.438																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(4891-4893)Ttg>Gtg		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							207.0	184.0	192.0					7																	121659225		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121659225T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4891T>G	7.37:g.121659225T>G	ENSP00000377047:p.Leu1631Val					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L771V	p.L1631V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			13	5302	+			1631					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4891T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450921	0.26074	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.75589	0.81;-0.95	5.37	-5.41	0.02648	.	0.000000	0.53938	D	0.000053	T	0.67850	0.2937	M	0.66939	2.045	0.23198	N	0.998139	B;B;P	0.40360	0.1;0.067;0.714	B;B;B	0.37198	0.084;0.018;0.243	T	0.62353	-0.6872	10	0.54805	T	0.06	.	16.7431	0.85465	0.0:0.5728:0.0:0.4272	.	770;771;1631	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1631;771	ENSP00000377047:L1631V;ENSP00000410000:L771V	ENSP00000377047:L1631V	L	+	1	2	PTPRZ1	121446461	0.681000	0.27614	0.383000	0.26132	0.982000	0.71751	-0.257000	0.08745	-1.949000	0.01031	-1.463000	0.01021	TTG		0.438	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		57	295	0	0	0	1	0	57	295				
AQP3	360	broad.mit.edu	37	9	33447441	33447441	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33447441G>T	ENST00000297991.4	-	1	168	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	30					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGGGTCCCCAGGCACTCGGCC	0.677																																						ENST00000297991.4																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(88-90)Ctg>Atg		aquaporin 3 (Gill blood group)							20.0	22.0	21.0					9																	33447441		2194	4298	6492	SO:0001583	missense	360				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	g.chr9:33447441G>T		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.88C>A	9.37:g.33447441G>T	ENSP00000297991:p.Leu30Met					AQP3_ENST00000493581.1_5'UTR	p.L30M	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)	1	168	-			30					A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	ENST00000297991.4	37	c.88C>A	CCDS6542.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411107	0.62399	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	D	0.87029	-2.2	5.74	3.91	0.45181	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.69185	2.1	0.50813	D	0.999891	P;D;D	0.76494	0.745;0.998;0.999	P;D;D	0.71184	0.574;0.947;0.972	D	0.89934	0.4068	10	0.56958	D	0.05	.	9.5888	0.39532	0.1625:0.0:0.8375:0.0	.	30;30;30	C9JAH5;Q92482;B4E034	.;AQP3_HUMAN;.	M	30	ENSP00000297991:L30M	ENSP00000297991:L30M	L	-	1	2	AQP3	33437441	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.387000	0.34430	0.788000	0.33755	-0.258000	0.10820	CTG		0.677	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		14	70	1	0	1.52009e-12	1	1.63397e-12	14	70				
LPA	4018	broad.mit.edu	37	6	161012086	161012086	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161012086G>T	ENST00000316300.5	-	23	3721	c.3677C>A	c.(3676-3678)cCt>cAt	p.P1226H	LPA_ENST00000447678.1_Missense_Mutation_p.P1226H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3734	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACACCAAGGACTAATCTC	0.478																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3676-3678)cCt>cAt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						94.0	93.0	94.0					6																	161012086		2192	4300	6492	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161012086G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3677C>A	6.37:g.161012086G>T	ENSP00000321334:p.Pro1226His					LPA_ENST00000316300.5_Missense_Mutation_p.P1226H	p.P1226H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	24	3797	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3734			Kringle 11.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3677C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642013	0.29157	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.83914	-1.78;-1.78	2.23	2.23	0.28157	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.93245	0.7848	H	0.99697	4.71	0.25370	N	0.9887	D	0.89917	1.0	D	0.97110	1.0	D	0.84621	0.0684	9	0.72032	D	0.01	.	10.0796	0.42381	0.0:0.0:1.0:0.0	.	3734	P08519	APOA_HUMAN	H	1226	ENSP00000321334:P1226H;ENSP00000395608:P1226H	ENSP00000321334:P1226H	P	-	2	0	LPA	160932076	1.000000	0.71417	0.657000	0.29651	0.220000	0.24768	6.735000	0.74806	1.225000	0.43566	0.205000	0.17691	CCT		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		47	176	1	0	2.68985e-26	1	3.09749e-26	47	176				
PLCG1	5335	broad.mit.edu	37	20	39802571	39802571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39802571G>A	ENST00000373271.1	+	30	3970	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	PLCG1_ENST00000373272.2_Missense_Mutation_p.A1189T|PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T|PLCG1_ENST00000608689.1_3'UTR	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1189					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGGATACAGAGCAGTGCCTTT	0.587																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3565-3567)Gca>Aca		phospholipase C, gamma 1							77.0	81.0	79.0					20																	39802571		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802571G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3565G>A	20.37:g.39802571G>A	ENSP00000362368:p.Ala1189Thr					PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T|PLCG1_ENST00000373271.1_Missense_Mutation_p.A1189T|PLCG1_ENST00000461641.1_3'UTR	p.A1189T	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			30	3970	+		Myeloproliferative disorder(115;0.00878)	1189					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3565G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372330	0.42003	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.13657	2.57;2.57;2.57	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.180410	0.49305	D	0.000154	T	0.14141	0.0342	L	0.40543	1.245	0.43088	D	0.994754	B;B;B	0.15930	0.013;0.015;0.007	B;B;B	0.16289	0.015;0.011;0.007	T	0.02333	-1.1175	10	0.54805	T	0.06	.	14.7289	0.69365	0.0:0.0:0.8545:0.1455	.	1189;1189;1189	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	T	1189	ENSP00000244007:A1189T;ENSP00000362368:A1189T;ENSP00000362369:A1189T	ENSP00000244007:A1189T	A	+	1	0	PLCG1	39235985	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	1.859000	0.39418	2.593000	0.87608	0.455000	0.32223	GCA		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		101	425	0	0	0	1	0	101	425				
ADCY6	112	broad.mit.edu	37	12	49170893	49170893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49170893G>A	ENST00000307885.4	-	5	2064	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	457					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTACGAGATGGCCTCAATCAT	0.557																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1369-1371)gCc>gTc		adenylate cyclase 6							170.0	157.0	161.0					12																	49170893		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170893G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1370C>T	12.37:g.49170893G>A	ENSP00000311405:p.Ala457Val					ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V|ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V	p.A457V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			5	2064	-			457					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1370C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878374	0.91740	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.81739	-1.53;-1.53;-1.53	4.43	4.43	0.53597	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.87541	0.6203	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.81914	0.909;0.995	D	0.88938	0.3378	10	0.87932	D	0	.	16.3463	0.83134	0.0:0.0:1.0:0.0	.	457;457	O43306-2;O43306	.;ADCY6_HUMAN	V	457	ENSP00000350536:A457V;ENSP00000446730:A457V;ENSP00000311405:A457V	ENSP00000311405:A457V	A	-	2	0	ADCY6	47457160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.451000	0.82905	0.561000	0.74099	GCC		0.557	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		215	770	0	0	0	1	0	215	770				
C20orf195	79025	broad.mit.edu	37	20	62187886	62187886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187886G>A	ENST00000370098.3	+	2	962	c.870G>A	c.(868-870)acG>acA	p.T290T	C20orf195_ENST00000370097.1_Silent_p.T290T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	290	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGACCTCCACGCTGGTGTACG	0.622																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(868-870)acG>acA		chromosome 20 open reading frame 195							86.0	94.0	91.0					20																	62187886		2203	4300	6503	SO:0001819	synonymous_variant	79025							g.chr20:62187886G>A		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.870G>A	20.37:g.62187886G>A						C20orf195_ENST00000370097.1_Silent_p.T290T	p.T290T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	962	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		290						Silent	SNP	ENST00000370098.3	37	c.870G>A	CCDS13526.1																																																																																				0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		100	852	0	0	0	1	0	100	852				
PLXNA2	5362	broad.mit.edu	37	1	208257763	208257763	+	Missense_Mutation	SNP	G	G	A	rs374437126		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208257763G>A	ENST00000367033.3	-	10	3017	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	754					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTTGAAGCGCAGAGCGGGG	0.622																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2260-2262)Cgc>Tgc		plexin A2		G	CYS/ARG	0,4406		0,0,2203	64.0	70.0	68.0		2260	5.7	1.0	1		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA2	NM_025179.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	754/1895	208257763	1,13005	2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208257763G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2260C>T	1.37:g.208257763G>A	ENSP00000356000:p.Arg754Cys						p.R754C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	10	3017	-			754					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2260C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856472	0.91355	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.01025	5.43	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.01087	-1.1456	10	0.56958	D	0.05	.	19.8253	0.96616	0.0:0.0:1.0:0.0	.	754	O75051	PLXA2_HUMAN	C	754	ENSP00000356000:R754C	ENSP00000356000:R754C	R	-	1	0	PLXNA2	206324386	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.527000	0.81931	2.676000	0.91093	0.650000	0.86243	CGC		0.622	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		125	365	0	0	0	1	0	125	365				
PRUNE2	158471	broad.mit.edu	37	9	79322428	79322428	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79322428T>C	ENST00000376718.3	-	8	4885	c.4762A>G	c.(4762-4764)Acc>Gcc	p.T1588A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1229A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1588					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCAGTGGTAATTAGTTCA	0.408																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3685-3687)Acc>Gcc		prune homolog 2 (Drosophila)							111.0	95.0	100.0					9																	79322428		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322428T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4762A>G	9.37:g.79322428T>C	ENSP00000365908:p.Thr1588Ala					PRUNE2_ENST00000376718.3_Missense_Mutation_p.T1588A	p.T1229A			Q8WUY3	PRUN2_HUMAN			8	4885	-			1588					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3685A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.68|10.68	1.419074|1.419074	0.25552|0.25552	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.44482|.	0.92;0.92|.	5.91|5.91	-1.37|-1.37	0.09056|0.09056	.|.	0.794342|.	0.11320|.	N|.	0.576108|.	T|T	0.36853|0.36853	0.0982|0.0982	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B|.	0.26120|.	0.142|.	B|.	0.20184|.	0.028|.	T|T	0.37174|0.37174	-0.9717|-0.9717	10|5	0.66056|.	D|.	0.02|.	-1.2138|-1.2138	2.5599|2.5599	0.04769|0.04769	0.3516:0.0676:0.1234:0.4574|0.3516:0.0676:0.1234:0.4574	.|.	1588|.	Q8WUY3|.	PRUN2_HUMAN|.	A|C	1588;1229;1587|909	ENSP00000365908:T1588A;ENSP00000397425:T1229A|.	ENSP00000365908:T1588A|.	T|Y	-|-	1|2	0|0	PRUNE2|PRUNE2	78512248|78512248	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.860000|0.860000	0.49131|0.49131	-0.367000|-0.367000	0.07553|0.07553	0.123000|0.123000	0.18342|0.18342	-0.333000|-0.333000	0.08304|0.08304	ACC|TAC		0.408	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		10	230	0	0	0	1	0	10	230				
MBD5	55777	broad.mit.edu	37	2	149248116	149248116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248116G>T	ENST00000407073.1	+	12	5213	c.4216G>T	c.(4216-4218)Gaa>Taa	p.E1406*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1406	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTAGTAAGAGAAGACGACGT	0.403																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(4216-4218)Gaa>Taa		methyl-CpG binding domain protein 5							75.0	73.0	74.0					2																	149248116		2203	4300	6503	SO:0001587	stop_gained	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149248116G>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4216G>T	2.37:g.149248116G>T	ENSP00000386049:p.Glu1406*					MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	p.E1406*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	5213	+			1406			PWWP.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	37	c.4216G>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	50	17.259051	0.99882	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.1386	20.0628	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	X	1406;1639	.	ENSP00000384672:E1639X	E	+	1	0	MBD5	148964586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.195000	0.94971	2.745000	0.94114	0.655000	0.94253	GAA		0.403	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			30	355	1	0	9.39395e-14	1	1.01619e-13	30	355				
ASPM	259266	broad.mit.edu	37	1	197097665	197097665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197097665G>A	ENST00000367409.4	-	10	3147	c.2891C>T	c.(2890-2892)gCc>gTc	p.A964V	ASPM_ENST00000367408.1_Missense_Mutation_p.A214V|ASPM_ENST00000294732.7_Missense_Mutation_p.A964V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	964	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTGTAACGGCAAAATCAAA	0.398																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2890-2892)gCc>gTc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							118.0	113.0	115.0					1																	197097665		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197097665G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2891C>T	1.37:g.197097665G>A	ENSP00000356379:p.Ala964Val					ASPM_ENST00000367408.1_Missense_Mutation_p.A214V|ASPM_ENST00000294732.7_Missense_Mutation_p.A964V	p.A964V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			10	3147	-			964			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2891C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643470	0.96704	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59224	0.28;0.28;0.28	5.77	5.77	0.91146	Calponin homology domain (4);	0.076806	0.53938	D	0.000049	T	0.75824	0.3902	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.87578	0.859;0.998	T	0.75513	-0.3291	10	0.66056	D	0.02	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	964;964	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	964;964;214	ENSP00000356379:A964V;ENSP00000294732:A964V;ENSP00000356378:A214V	ENSP00000294732:A964V	A	-	2	0	ASPM	195364288	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.311000	0.96282	2.885000	0.99019	0.655000	0.94253	GCC		0.398	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		94	497	0	0	0	1	0	94	497				
PRUNE2	158471	broad.mit.edu	37	9	79253164	79253164	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79253164G>A	ENST00000376718.3	-	13	8892	c.8769C>T	c.(8767-8769)gcC>gcT	p.A2923A	PRUNE2_ENST00000443509.2_Silent_p.A172A|PRUNE2_ENST00000428286.1_Silent_p.A2565A|PRUNE2_ENST00000223609.6_Silent_p.A188A|PRUNE2_ENST00000466266.2_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2923	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAAAACAGGCGGCAAACACAA	0.418																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7693-7695)gcC>gcT		prune homolog 2 (Drosophila)							72.0	67.0	68.0					9																	79253164		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79253164G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8769C>T	9.37:g.79253164G>A						PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Silent_p.A172A|PRUNE2_ENST00000376718.3_Silent_p.A2923A|PRUNE2_ENST00000223609.6_Silent_p.A188A	p.A2565A			Q8WUY3	PRUN2_HUMAN			13	8895	-			2923					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.7695C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105719	0.20632	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.46	-7.36	0.01417	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	-15.8655	10.1297	0.42672	0.7359:0.0874:0.0893:0.0874	.	.	.	.	C	2248	.	.	R	-	1	0	PRUNE2	78442984	0.000000	0.05858	0.935000	0.37517	0.994000	0.84299	-2.106000	0.01338	-0.994000	0.03463	-0.266000	0.10368	CGC		0.418	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		24	137	0	0	0	1	0	24	137				
DDX51	317781	broad.mit.edu	37	12	132626412	132626412	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132626412C>T	ENST00000397333.3	-	6	1016	c.978G>A	c.(976-978)gaG>gaA	p.E326E	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	326	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGAGGCTCTCCTGCTCCT	0.577																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(976-978)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							63.0	64.0	63.0					12																	132626412		1949	4148	6097	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132626412C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.978G>A	12.37:g.132626412C>T							p.E326E	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	6	1016	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	326			Helicase ATP-binding.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.978G>A	CCDS41865.1																																																																																				0.577	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		45	227	0	0	0	1	0	45	227				
LRRC46	90506	broad.mit.edu	37	17	45909502	45909502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45909502G>A	ENST00000269025.4	+	2	410	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	MRPL10_ENST00000414011.1_5'Flank|MRPL10_ENST00000351111.2_5'Flank|MRPL10_ENST00000290208.7_5'Flank	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	16										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGGGCGTCTGCATCACTGAA	0.532																																						ENST00000269025.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(46-48)tGc>tAc		leucine rich repeat containing 46							156.0	147.0	150.0					17																	45909502		2203	4300	6503	SO:0001583	missense	90506							g.chr17:45909502G>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.47G>A	17.37:g.45909502G>A	ENSP00000269025:p.Cys16Tyr						p.C16Y	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN			2	410	+			16					A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	c.47G>A	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644109	0.29246	.	.	ENSG00000141294	ENST00000269025	T	0.75050	-0.9	5.69	3.57	0.40892	.	0.589593	0.17425	N	0.174671	T	0.53738	0.1815	L	0.27053	0.805	0.29634	N	0.845248	P	0.44877	0.845	B	0.41619	0.361	T	0.54899	-0.8224	10	0.02654	T	1	-4.0105	5.8611	0.18747	0.0979:0.0:0.712:0.1901	.	16	Q96FV0	LRC46_HUMAN	Y	16	ENSP00000269025:C16Y	ENSP00000269025:C16Y	C	+	2	0	LRRC46	43264501	0.980000	0.34600	0.984000	0.44739	0.686000	0.39977	1.122000	0.31295	1.381000	0.46364	0.561000	0.74099	TGC		0.532	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		54	601	0	0	0	1	0	54	601				
DDX60	55601	broad.mit.edu	37	4	169194446	169194446	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169194446T>G	ENST00000393743.3	-	18	2849	c.2558A>C	c.(2557-2559)gAt>gCt	p.D853A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	853	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTAAGGCATCATGACGATA	0.358																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2557-2559)gAt>gCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							84.0	79.0	81.0					4																	169194446		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169194446T>G	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2558A>C	4.37:g.169194446T>G	ENSP00000377344:p.Asp853Ala						p.D853A	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	18	2849	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	853			Helicase ATP-binding.		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2558A>C	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381296	0.42207	.	.	ENSG00000137628	ENST00000393743	T	0.14266	2.52	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.379178	0.24808	N	0.035430	T	0.25791	0.0628	L	0.40543	1.245	0.43308	D	0.995313	D	0.60575	0.988	P	0.60541	0.876	T	0.00597	-1.1652	10	0.36615	T	0.2	.	15.6094	0.76704	0.0:0.0:0.0:1.0	.	853	Q8IY21	DDX60_HUMAN	A	853	ENSP00000377344:D853A	ENSP00000377344:D853A	D	-	2	0	DDX60	169431021	0.989000	0.36119	0.096000	0.21009	0.004000	0.04260	5.030000	0.64128	2.225000	0.72522	0.460000	0.39030	GAT		0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		63	255	0	0	0	1	0	63	255				
IL4R	3566	broad.mit.edu	37	16	27373988	27373988	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27373988A>G	ENST00000395762.2	+	11	1574	c.1315A>G	c.(1315-1317)Acg>Gcg	p.T439A	IL4R_ENST00000170630.2_Missense_Mutation_p.T439A|IL4R_ENST00000380922.3_Missense_Mutation_p.T424A|IL4R_ENST00000543915.2_Missense_Mutation_p.T439A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	439	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCGGGAAGTACGAGTGCTCA	0.612																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1315-1317)Acg>Gcg		interleukin 4 receptor							71.0	70.0	71.0					16																	27373988		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373988A>G	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1315A>G	16.37:g.27373988A>G	ENSP00000379111:p.Thr439Ala					IL4R_ENST00000380922.3_Missense_Mutation_p.T424A|IL4R_ENST00000543915.2_Missense_Mutation_p.T439A|IL4R_ENST00000170630.2_Missense_Mutation_p.T439A	p.T439A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1574	+			439			Required for IRS1 activation and IL4- induced cell growth.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1315A>G	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	1.427	-0.571301	0.03882	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.2	-7.59	0.01308	.	9.612440	0.00166	N	0.000001	T	0.02970	0.0088	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.39502	-0.9611	10	0.08599	T	0.76	-16.6382	7.3258	0.26555	0.5114:0.3494:0.1392:0.0	.	424;439;439	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	439;439;424;439	ENSP00000379111:T439A;ENSP00000441667:T439A;ENSP00000370309:T424A;ENSP00000170630:T439A	ENSP00000170630:T439A	T	+	1	0	IL4R	27281489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.440000	0.02412	-1.278000	0.02408	-0.408000	0.06270	ACG		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			18	451	0	0	0	1	0	18	451				
CPEB4	80315	broad.mit.edu	37	5	173316694	173316694	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316694G>A	ENST00000265085.5	+	0	1412				CPEB4_ENST00000520867.1_De_novo_Start_InFrame|CPEB4_ENST00000519835.1_De_novo_Start_InFrame|CPEB4_ENST00000334035.5_De_novo_Start_InFrame	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4						cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGACATCAGGTTGTCATTTT	0.378																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20								cytoplasmic polyadenylation element binding protein 4							46.0	51.0	49.0					5																	173316694		2202	4300	6502			80315						nucleotide binding|RNA binding	g.chr5:173316694G>A	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541		5.37:g.173316694G>A						CPEB4_ENST00000334035.5_De_novo_Start_InFrame|CPEB4_ENST00000520867.1_De_novo_Start_InFrame|CPEB4_ENST00000519835.1_De_novo_Start_InFrame		NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		0	1412	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)						B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Translation_Start_Site	SNP	ENST00000265085.5	37		CCDS4390.1																																																																																				0.378	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		89	440	0	0	0	1	0	89	440				
HBS1L	10767	broad.mit.edu	37	6	135317999	135317999	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135317999T>A	ENST00000367837.5	-	7	1087	c.881A>T	c.(880-882)aAg>aTg	p.K294M	HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M|HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	294	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGTTCATACTTATGCATAGT	0.388																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(880-882)aAg>aTg		HBS1-like (S. cerevisiae)							186.0	181.0	183.0					6																	135317999		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135317999T>A	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.881A>T	6.37:g.135317999T>A	ENSP00000356811:p.Lys294Met					HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M|HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M|HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M	p.K294M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	7	1087	-	Colorectal(23;0.221)		294					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.881A>T	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	32	5.111168	0.94339	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641;ENST00000527507	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.95	5.95	0.96441	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90160	0.4227	10	0.87932	D	0	-23.4431	16.4288	0.83833	0.0:0.0:0.0:1.0	.	252;294	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	M	294;130;229;252;130;164;18;130;130	ENSP00000356811:K294M;ENSP00000436256:K130M;ENSP00000389826:K229M;ENSP00000356800:K252M;ENSP00000356798:K130M;ENSP00000434533:K164M;ENSP00000415305:K18M;ENSP00000436620:K130M;ENSP00000432092:K130M	ENSP00000356798:K130M	K	-	2	0	HBS1L	135359692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.282000	0.76494	0.533000	0.62120	AAG		0.388	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			170	664	0	0	0	1	0	170	664				
PLXNA3	55558	broad.mit.edu	37	X	153698908	153698908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698908C>T	ENST00000369682.3	+	30	5285	c.5110C>T	c.(5110-5112)Cgc>Tgc	p.R1704C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1704					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGGACCAGCGCCAGATCAG	0.632																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(5110-5112)Cgc>Tgc		plexin A3							90.0	80.0	83.0					X																	153698908		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698908C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5110C>T	X.37:g.153698908C>T	ENSP00000358696:p.Arg1704Cys					PLXNA3_ENST00000493546.1_3'UTR	p.R1704C	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			30	5285	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1704					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.5110C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911170	0.72983	.	.	ENSG00000130827	ENST00000369682	T	0.13089	2.62	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.129791	0.50627	D	0.000109	T	0.25975	0.0633	L	0.48642	1.525	0.54753	D	0.999988	D	0.65815	0.995	P	0.62382	0.901	T	0.00824	-1.1551	10	0.87932	D	0	.	10.4064	0.44260	0.3212:0.6788:0.0:0.0	.	1704	P51805	PLXA3_HUMAN	C	1704	ENSP00000358696:R1704C	ENSP00000358696:R1704C	R	+	1	0	PLXNA3	153352102	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	2.293000	0.43558	2.156000	0.67533	0.529000	0.55759	CGC		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		118	518	0	0	0	1	0	118	518				
PAQR8	85315	broad.mit.edu	37	6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	8					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.R8H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622																																						ENST00000442253.2																			1	Substitution - Missense(1)	p.R8H(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(22-24)cGc>cAc		progestin and adipoQ receptor family member VIII							27.0	26.0	27.0					6																	52268034		2202	4298	6500	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268034G>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.23G>A	6.37:g.52268034G>A	ENSP00000406197:p.Arg8His					PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	197	+	Lung NSC(77;0.0875)		8					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.23G>A	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013836	0.54468	.	.	ENSG00000170915	ENST00000512121;ENST00000442253;ENST00000360726	T;T;T	0.48201	0.82;1.85;1.85	5.3	4.37	0.52481	.	0.057774	0.64402	D	0.000002	T	0.29355	0.0731	L	0.57536	1.79	0.53688	D	0.999971	B	0.15719	0.014	B	0.14023	0.01	T	0.26710	-1.0095	10	0.72032	D	0.01	-26.5311	11.8411	0.52355	0.0921:0.0:0.9079:0.0	.	8	Q8TEZ7	MPRB_HUMAN	H	8	ENSP00000427161:R8H;ENSP00000406197:R8H;ENSP00000353953:R8H	ENSP00000353953:R8H	R	+	2	0	PAQR8	52375993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.373000	0.52394	1.105000	0.41606	0.655000	0.94253	CGC		0.622	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		31	130	0	0	0	1	0	31	130				
ADSL	158	broad.mit.edu	37	22	40749110	40749110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40749110C>T	ENST00000216194.7	+	3	447	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ADSL_ENST00000454266.2_Intron|ADSL_ENST00000342312.6_Missense_Mutation_p.L131F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	131					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ACTTGACCTGCTTTTGCCAAA	0.363																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(391-393)Ctt>Ttt		adenylosuccinate lyase							118.0	109.0	112.0					22																	40749110		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40749110C>T	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.391C>T	22.37:g.40749110C>T	ENSP00000216194:p.Leu131Phe					ADSL_ENST00000454266.2_Intron|ADSL_ENST00000342312.6_Missense_Mutation_p.L131F	p.L131F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			3	447	+			131					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.391C>T	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762268	0.89932	.	.	ENSG00000239900	ENST00000216194;ENST00000342312	D;D	0.99784	-6.74;-6.74	5.6	5.6	0.85130	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.76575	0.979;0.988;0.988	D	0.96915	0.9670	10	0.87932	D	0	.	17.4818	0.87674	0.0:1.0:0.0:0.0	.	131;131;131	P30566-2;Q71UA4;P30566	.;.;PUR8_HUMAN	F	131	ENSP00000216194:L131F;ENSP00000341429:L131F	ENSP00000216194:L131F	L	+	1	0	ADSL	39079056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.445000	0.66594	2.818000	0.97014	0.655000	0.94253	CTT		0.363	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		49	176	0	0	0	1	0	49	176				
KCNB2	9312	broad.mit.edu	37	8	73480440	73480440	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73480440G>A	ENST00000523207.1	+	2	1059	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	157					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAGAGGCAGAGACTATGCGAG	0.458																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(469-471)gaG>gaA		potassium voltage-gated channel, Shab-related subfamily, member 2							136.0	143.0	140.0					8																	73480440		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480440G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.471G>A	8.37:g.73480440G>A							p.E157E	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1059	+	Breast(64;0.137)		157					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.471G>A	CCDS6209.1																																																																																				0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		125	652	0	0	0	1	0	125	652				
PDLIM3	27295	broad.mit.edu	37	4	186423604	186423604	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423604C>T	ENST00000284770.5	-	8	1012	c.939G>A	c.(937-939)cgG>cgA	p.R313R	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.R265R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	313	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACTCAGGGTGCCGGTACTTAT	0.507																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(937-939)cgG>cgA		PDZ and LIM domain 3							110.0	99.0	103.0					4																	186423604		2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186423604C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.939G>A	4.37:g.186423604C>T						PDLIM3_ENST00000284771.6_Silent_p.R265R|PDLIM3_ENST00000284767.5_3'UTR	p.R313R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	8	1012	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	313			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.939G>A	CCDS3844.1																																																																																				0.507	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		84	398	0	0	0	1	0	84	398				
KIAA1644	85352	broad.mit.edu	37	22	44681381	44681381	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44681381G>A	ENST00000381176.4	-	4	658	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	176						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACGGCCTGTGGGGCTTGTGGC	0.687																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(526-528)Cca>Tca		KIAA1644							52.0	56.0	55.0					22																	44681381		2054	4201	6255	SO:0001583	missense	85352					integral to membrane		g.chr22:44681381G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.526C>T	22.37:g.44681381G>A	ENSP00000370568:p.Pro176Ser						p.P176S	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			4	658	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	176					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.526C>T	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	4.343	0.063153	0.08388	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	2.83	0.33086	.	0.164918	0.39407	N	0.001376	T	0.15046	0.0363	N	0.03608	-0.345	0.30181	N	0.800376	B	0.06786	0.001	B	0.10450	0.005	T	0.20974	-1.0259	8	0.10377	T	0.69	-29.3991	5.7321	0.18047	0.1539:0.1923:0.6538:0.0	.	176	Q3SXP7	K1644_HUMAN	S	176	.	ENSP00000370568:P176S	P	-	1	0	KIAA1644	43012714	1.000000	0.71417	0.999000	0.59377	0.357000	0.29423	1.915000	0.39976	2.345000	0.79718	0.561000	0.74099	CCA		0.687	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		104	477	0	0	0	1	0	104	477				
GRM1	2911	broad.mit.edu	37	6	146625805	146625805	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146625805G>A	ENST00000282753.1	+	3	1244	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	GRM1_ENST00000361719.2_Missense_Mutation_p.G337R|GRM1_ENST00000392299.2_Missense_Mutation_p.G337R|GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000492807.2_Missense_Mutation_p.G337R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	337					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCCAACGGGGGAATCACGAT	0.473																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1009-1011)Gga>Aga		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						102.0	86.0	92.0					6																	146625805		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625805G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1009G>A	6.37:g.146625805G>A	ENSP00000282753:p.Gly337Arg					GRM1_ENST00000492807.2_Missense_Mutation_p.G337R|GRM1_ENST00000282753.1_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000361719.2_Missense_Mutation_p.G337R	p.G337R			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1479	+		Ovarian(120;0.0387)	337					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1009G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389791	0.95988	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.53249	1.67	0.80722	D	1	P;D;D	0.89917	0.929;1.0;0.999	P;D;D	0.97110	0.729;1.0;0.986	D	0.88521	0.3096	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	337;337;337	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	337	ENSP00000354896:G337R;ENSP00000376119:G337R;ENSP00000424095:G337R;ENSP00000282753:G337R;ENSP00000347437:G337R;ENSP00000425599:G337R	ENSP00000282753:G337R	G	+	1	0	GRM1	146667498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GGA		0.473	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		24	151	0	0	0	1	0	24	151				
ERMARD	55780	broad.mit.edu	37	6	170181441	170181441	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170181441C>A	ENST00000366773.3	+	18	1902	c.1869C>A	c.(1867-1869)atC>atA	p.I623I	ERMARD_ENST00000366772.2_Silent_p.I576I|ERMARD_ENST00000392095.4_Silent_p.I497I|ERMARD_ENST00000418781.3_Silent_p.I550I|ERMARD_ENST00000588451.1_Silent_p.I487I	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	623					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TAAAGTCGATCTTGCAGTACA	0.318																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(1459-1461)atC>atA									78.0	70.0	73.0					6																	170181441		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr6:170181441C>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1869C>A	6.37:g.170181441C>A						C6orf70_ENST00000366773.3_Silent_p.I623I|C6orf70_ENST00000418781.3_Silent_p.I550I|C6orf70_ENST00000392095.4_Silent_p.I497I|C6orf70_ENST00000366772.2_Silent_p.I576I	p.I487I			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	17	1974	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	623					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.1461C>A	CCDS34576.1																																																																																				0.318	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		41	129	1	0	8.01111e-26	1	9.20789e-26	41	129				
EPS8	2059	broad.mit.edu	37	12	15807132	15807132	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15807132A>G	ENST00000281172.5	-	13	1633	c.1197T>C	c.(1195-1197)aaT>aaC	p.N399N	EPS8_ENST00000542903.1_Silent_p.N139N|EPS8_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000543523.1_Silent_p.N399N|EPS8_ENST00000543612.1_Silent_p.N399N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	399	PH; second part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTTCATCACCATTGACAGTAT	0.418																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1195-1197)aaT>aaC		epidermal growth factor receptor pathway substrate 8							130.0	109.0	116.0					12																	15807132		2203	4300	6503	SO:0001819	synonymous_variant	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15807132A>G	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1197T>C	12.37:g.15807132A>G						EPS8_ENST00000543523.1_Silent_p.N399N|EPS8_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000543612.1_Silent_p.N399N|EPS8_ENST00000542903.1_Silent_p.N139N	p.N399N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	13	1633	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	399			PH; second part.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	c.1197T>C	CCDS31753.1																																																																																				0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			80	314	0	0	0	1	0	80	314				
PCBP3	54039	broad.mit.edu	37	21	47329321	47329321	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47329321C>T	ENST00000400314.1	+	8	730	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	131	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGTGACGCTGAGGCTG	0.597																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(391-393)aCg>aTg		poly(rC) binding protein 3							56.0	65.0	62.0					21																	47329321		2098	4249	6347	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47329321C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.392C>T	21.37:g.47329321C>T	ENSP00000383168:p.Thr131Met					PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M|PCBP3_ENST00000468429.1_3'UTR	p.T131M			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	8	730	+	all_hematologic(128;0.24)		131			KH 2.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.392C>T	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105317	0.77096	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.0	5.0	0.66597	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.956;1.0;0.999;0.978;1.0;0.986	T	0.75331	-0.3355	10	0.87932	D	0	-20.0627	18.6823	0.91551	0.0:1.0:0.0:0.0	.	99;131;99;131;131;131;131	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	M	131;131;131;131;131;131;107;99	ENSP00000383168:T131M;ENSP00000383165:T131M;ENSP00000383164:T131M;ENSP00000383163:T131M;ENSP00000401198:T131M;ENSP00000383160:T107M;ENSP00000383159:T99M	ENSP00000330225:T131M	T	+	2	0	PCBP3	46153749	1.000000	0.71417	0.360000	0.25837	0.615000	0.37417	7.331000	0.79192	2.502000	0.84385	0.655000	0.94253	ACG		0.597	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			103	326	0	0	0	1	0	103	326				
NBEAL1	65065	broad.mit.edu	37	2	204016309	204016309	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204016309C>T	ENST00000449802.1	+	34	5830	c.5497C>T	c.(5497-5499)Ctg>Ttg	p.L1833L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1833										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAGAGATAATCTGGGTGAGTT	0.358																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5497-5499)Ctg>Ttg		neurobeachin-like 1							74.0	69.0	70.0					2																	204016309		1856	4108	5964	SO:0001819	synonymous_variant	65065						binding	g.chr2:204016309C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5497C>T	2.37:g.204016309C>T							p.L1833L	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			34	5830	+			1833					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	c.5497C>T	CCDS46495.1																																																																																				0.358	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			34	232	0	0	0	1	0	34	232				
EGF	1950	broad.mit.edu	37	4	110864531	110864531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110864531C>T	ENST00000265171.5	+	3	894	c.449C>T	c.(448-450)tCc>tTc	p.S150F	EGF_ENST00000509793.1_Missense_Mutation_p.S150F|EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	150					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGAAATAATTCCCACATTCTT	0.303																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(448-450)tCc>tTc		epidermal growth factor	Sulindac(DB00605)						77.0	80.0	79.0					4																	110864531		2202	4299	6501	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864531C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.449C>T	4.37:g.110864531C>T	ENSP00000265171:p.Ser150Phe					EGF_ENST00000509793.1_Missense_Mutation_p.S150F|EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR	p.S150F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	894	+		Hepatocellular(203;0.0893)	150					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.449C>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125930	0.56721	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.36878	1.23;1.23;1.23	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.449029	0.27797	N	0.017801	T	0.56848	0.2013	M	0.78916	2.43	0.26687	N	0.971421	D;D;D	0.71674	0.996;0.998;0.993	P;D;P	0.66716	0.885;0.946;0.885	T	0.54516	-0.8282	10	0.38643	T	0.18	.	11.1892	0.48675	0.1329:0.7219:0.1451:0.0	.	150;150;150	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	F	150	ENSP00000424316:S150F;ENSP00000265171:S150F;ENSP00000421384:S150F	ENSP00000265171:S150F	S	+	2	0	EGF	111083980	0.889000	0.30405	0.749000	0.31150	0.887000	0.51463	2.230000	0.42999	2.640000	0.89533	0.650000	0.86243	TCC		0.303	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			48	185	0	0	0	1	0	48	185				
FAM196A	642938	broad.mit.edu	37	10	128973575	128973575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128973575A>C	ENST00000522781.1	-	4	1640	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	362										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CATCATCTGAAGTTGTGCTTT	0.537																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1084-1086)cTt>cGt		family with sequence similarity 196, member A							175.0	181.0	179.0					10																	128973575		2203	4300	6503	SO:0001583	missense	642938							g.chr10:128973575A>C		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.1085T>G	10.37:g.128973575A>C	ENSP00000429763:p.Leu362Arg					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R	p.L362R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1640	-			362					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.1085T>G	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296272	0.81025	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.72615	-0.67;-0.67	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83164	-0.0097	10	0.87932	D	0	.	15.1563	0.72746	1.0:0.0:0.0:0.0	.	362;362	B7ZME7;Q6ZSG2	.;F196A_HUMAN	R	362	ENSP00000429763:L362R;ENSP00000428730:L362R	ENSP00000428730:L362R	L	-	2	0	FAM196A	128863565	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.832000	0.92079	2.047000	0.60756	0.460000	0.39030	CTT		0.537	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		224	960	0	0	0	1	0	224	960				
OR14K1	343170	broad.mit.edu	37	1	247902647	247902647	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247902647T>C	ENST00000283225.2	+	1	731	c.731T>C	c.(730-732)aTt>aCt	p.I244T	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CCTCACCTCATTGTTGTCACT	0.418																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(730-732)aTt>aCt		olfactory receptor, family 14, subfamily K, member 1							151.0	140.0	143.0					1																	247902647		2002	4169	6171	SO:0001583	missense	343170							g.chr1:247902647T>C	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.731T>C	1.37:g.247902647T>C	ENSP00000283225:p.Ile244Thr					RP11-634B7.4_ENST00000449298.1_RNA	p.I244T							1	731	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.731T>C		.	.	.	.	.	.	.	.	.	.	T	7.086	0.571119	0.13623	.	.	ENSG00000153230	ENST00000283225	T	0.37584	1.19	3.9	0.163	0.14986	.	1.783640	0.04264	U	0.340931	T	0.19485	0.0468	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16600	-1.0397	7	0.11794	T	0.64	.	7.8887	0.29665	0.0:0.5211:0.0:0.4789	.	.	.	.	T	244	ENSP00000283225:I244T	ENSP00000283225:I244T	I	+	2	0	OR14K1	245969270	0.000000	0.05858	0.000000	0.03702	0.843000	0.47879	-1.485000	0.02314	0.115000	0.18071	0.496000	0.49642	ATT		0.418	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		64	176	0	0	0	1	0	64	176				
ZNF805	390980	broad.mit.edu	37	19	57764897	57764897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57764897G>A	ENST00000414468.2	+	4	710	c.710G>A	c.(709-711)gGa>gAa	p.G237E	ZNF805_ENST00000354309.4_Missense_Mutation_p.G104E|ZNF805_ENST00000535550.1_Missense_Mutation_p.G104E	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACAGAGTGTGGAAAAACCTTT	0.468																																						ENST00000535550.1																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(310-312)gGa>gAa		zinc finger protein 805							58.0	55.0	56.0					19																	57764897		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57764897G>A	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.710G>A	19.37:g.57764897G>A	ENSP00000412999:p.Gly237Glu					ZNF805_ENST00000354309.4_Missense_Mutation_p.G104E|ZNF805_ENST00000414468.2_Missense_Mutation_p.G237E	p.G104E	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN			4	807	+			237					B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.311G>A	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469797	0.63625	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.64803	-0.12;-0.12;-0.12	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75796	0.3898	L	0.59436	1.845	0.27043	N	0.963965	D	0.89917	1.0	D	0.79108	0.992	T	0.67604	-0.5628	9	0.59425	D	0.04	.	15.0543	0.71901	0.0:0.0:1.0:0.0	.	237	Q5CZA5	ZN805_HUMAN	E	104;237;104	ENSP00000440067:G104E;ENSP00000412999:G237E;ENSP00000365414:G104E	ENSP00000365414:G104E	G	+	2	0	ZNF805	62456709	0.998000	0.40836	0.998000	0.56505	0.897000	0.52465	2.460000	0.45031	2.486000	0.83907	0.655000	0.94253	GGA		0.468	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		24	85	0	0	0	1	0	24	85				
ITCH	83737	broad.mit.edu	37	20	33045246	33045246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33045246G>A	ENST00000262650.6	+	14	1521	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000374864.4_Missense_Mutation_p.R421Q|ITCH-IT1_ENST00000418598.1_RNA			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	462	Required for interaction with FYN.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CACAACACACGAATTACACAA	0.398																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1261-1263)cGa>cAa		itchy E3 ubiquitin protein ligase							87.0	74.0	79.0					20																	33045246		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33045246G>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1385G>A	20.37:g.33045246G>A	ENSP00000262650:p.Arg462Gln					ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000262650.6_Missense_Mutation_p.R462Q|ITCH_ENST00000483727.1_3'UTR	p.R421Q	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			13	1475	+			462			Required for interaction with FYN.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1262G>A	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	36	5.899721	0.97081	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	D;D;D	0.82893	-1.66;-1.66;-1.66	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.984	D;D;P	0.72982	0.979;0.962;0.882	D	0.90880	0.4753	10	0.87932	D	0	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	373;462;421	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	Q	421;311;462	ENSP00000363998:R421Q;ENSP00000445608:R311Q;ENSP00000262650:R462Q	ENSP00000262650:R462Q	R	+	2	0	ITCH	32508907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.804000	0.99143	2.720000	0.93068	0.591000	0.81541	CGA		0.398	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			28	107	0	0	0	1	0	28	107				
NRAP	4892	broad.mit.edu	37	10	115355411	115355411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115355411C>T	ENST00000359988.3	-	38	4751	c.4507G>A	c.(4507-4509)Gct>Act	p.A1503T	NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T|NRAP_ENST00000369358.4_Missense_Mutation_p.A1511T|NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGAGGCGAGCTCGGGTGAAA	0.502																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4531-4533)Gct>Act		nebulin-related anchoring protein							170.0	145.0	153.0					10																	115355411		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115355411C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4507G>A	10.37:g.115355411C>T	ENSP00000353078:p.Ala1503Thr					NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T|NRAP_ENST00000359988.3_Missense_Mutation_p.A1503T|NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T	p.A1511T			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	38	4775	-		Colorectal(252;0.0233)|Breast(234;0.188)	1503						Missense_Mutation	SNP	ENST00000359988.3	37	c.4531G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770003	0.90020	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.88105	2.93	0.43334	D	0.99537	D;D;D;D	0.89917	1.0;0.977;0.984;0.987	D;D;D;D	0.91635	0.999;0.925;0.915;0.949	D	0.86933	0.2074	10	0.72032	D	0.01	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	661;1503;1468;1503	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	T	1511;1476;1503;1468;661	ENSP00000358365:A1511T;ENSP00000358367:A1476T;ENSP00000353078:A1503T;ENSP00000353666:A1468T	ENSP00000353078:A1503T	A	-	1	0	NRAP	115345401	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.122000	0.64697	2.826000	0.97356	0.655000	0.94253	GCT		0.502	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		80	347	0	0	0	1	0	80	347				
LRRIQ1	84125	broad.mit.edu	37	12	85449460	85449460	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85449460T>G	ENST00000393217.2	+	8	950	c.889T>G	c.(889-891)Ttt>Gtt	p.F297V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	297	Glu-rich.|IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATATAAAGCATTTGTTGCCTA	0.299																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(889-891)Ttt>Gtt		leucine-rich repeats and IQ motif containing 1							29.0	33.0	32.0					12																	85449460		2199	4290	6489	SO:0001583	missense	84125							g.chr12:85449460T>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.889T>G	12.37:g.85449460T>G	ENSP00000376910:p.Phe297Val						p.F297V	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	950	+			297			Glu-rich.|IQ 1.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.889T>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429297	0.25726	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55588	0.51	5.27	5.27	0.74061	.	0.616553	0.17259	N	0.180844	T	0.57932	0.2087	L	0.43923	1.385	0.28572	N	0.910581	D;P	0.63880	0.993;0.773	P;B	0.53954	0.738;0.162	T	0.56535	-0.7963	10	0.54805	T	0.06	.	13.7459	0.62874	0.0:0.0:0.0:1.0	.	297;272	Q96JM4;C9JI57	LRIQ1_HUMAN;.	V	297;272;297	ENSP00000376910:F297V	ENSP00000256007:F297V	F	+	1	0	LRRIQ1	83973591	0.367000	0.25023	0.540000	0.28089	0.191000	0.23601	2.868000	0.48436	2.004000	0.58718	0.260000	0.18958	TTT		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		13	95	0	0	0	1	0	13	95				
DNAJC5G	285126	broad.mit.edu	37	2	27500629	27500629	+	Missense_Mutation	SNP	G	G	A	rs192714047	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27500629G>A	ENST00000296097.3	+	4	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	41	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATTCCGCATTGCTTCC	0.498																																						ENST00000296097.3																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(121-123)Gca>Aca		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							100.0	97.0	98.0					2																	27500629		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27500629G>A	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.121G>A	2.37:g.27500629G>A	ENSP00000296097:p.Ala41Thr					DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron	p.A41T	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN			4	539	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		41			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.121G>A	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439068	0.25900	.	.	ENSG00000163793	ENST00000296097;ENST00000402462	T;T	0.36878	1.23;1.23	4.23	-0.292	0.12839	Heat shock protein DnaJ, N-terminal (3);	4.417190	0.01975	N	0.044361	T	0.32912	0.0845	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.16289	0.015	T	0.46414	-0.9193	10	0.66056	D	0.02	.	13.6002	0.62015	0.0:0.3233:0.6767:0.0	.	41	Q8N7S2	DNJ5G_HUMAN	T	41	ENSP00000296097:A41T;ENSP00000384305:A41T	ENSP00000296097:A41T	A	+	1	0	DNAJC5G	27354133	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.233000	0.09041	0.116000	0.18110	-0.387000	0.06579	GCA		0.498	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		148	387	0	0	0	1	0	148	387				
FRAS1	80144	broad.mit.edu	37	4	79428591	79428591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79428591T>G	ENST00000264895.6	+	62	9773	c.9333T>G	c.(9331-9333)ttT>ttG	p.F3111L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3107	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCATATCTTTTTTAAAGTTG	0.473																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9331-9333)ttT>ttG		Fraser syndrome 1							97.0	89.0	92.0					4																	79428591		1944	4136	6080	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79428591T>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9333T>G	4.37:g.79428591T>G	ENSP00000264895:p.Phe3111Leu						p.F3111L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			62	9773	+			3106			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.9333T>G	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.037|9.037	0.988810|0.988810	0.18966|0.18966	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|T	0.28454|0.28895	1.61|1.59	5.25|5.25	-3.37|-3.37	0.04898|0.04898	.|.	0.645296|0.645296	0.14834|0.14834	N|N	0.295696|0.295696	T|T	0.13884|0.13884	0.0336|0.0336	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.22906|0.22906	-1.0203|-1.0203	10|8	0.08837|0.08837	T|T	0.75|0.75	.|.	5.8971|5.8971	0.18945|0.18945	0.1005:0.5096:0.1866:0.2032|0.1005:0.5096:0.1866:0.2032	.|.	3110;3111|.	Q86XX4-2;E9PHH6|.	.;.|.	L|V	3111|1340	ENSP00000264895:F3111L|ENSP00000422834:F1340V	ENSP00000264895:F3111L|ENSP00000422834:F1340V	F|F	+|+	3|1	2|0	FRAS1|FRAS1	79647615|79647615	0.005000|0.005000	0.15991|0.15991	0.964000|0.964000	0.40570|0.40570	0.939000|0.939000	0.58152|0.58152	-1.613000|-1.613000	0.02059|0.02059	-0.507000|-0.507000	0.06549|0.06549	-0.353000|-0.353000	0.07706|0.07706	TTT|TTT		0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	123	0	0	0	1	0	23	123				
CD1C	911	broad.mit.edu	37	1	158261152	158261152	+	Missense_Mutation	SNP	G	G	A	rs114534381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158261152G>A	ENST00000368170.3	+	2	569	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGATTAACTCGGGAGATTCAA	0.363																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(289-291)cGg>cAg		CD1c molecule		G	GLN/ARG	11,4395		0,11,2192	97.0	95.0	96.0		290	-2.2	0.0	1	dbSNP_132	96	2,8598		0,2,4298	yes	missense	CD1C	NM_001765.2	43	0,13,6490	AA,AG,GG		0.0233,0.2497,0.1	benign	97/334	158261152	13,12993	2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261152G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.290G>A	1.37:g.158261152G>A	ENSP00000357152:p.Arg97Gln						p.R97Q	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			2	569	+	all_hematologic(112;0.0378)		97					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.290G>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	5.842	0.339525	0.11069	0.002497	2.33E-4	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.16897	2.31	3.52	-2.19	0.07015	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.350910	0.05551	N	0.567474	T	0.02455	0.0075	N	0.20986	0.625	0.09310	N	1	B	0.23990	0.095	B	0.12156	0.007	T	0.42732	-0.9434	10	0.21014	T	0.42	.	3.4483	0.07488	0.5132:0.0:0.2977:0.1891	.	97	P29017	CD1C_HUMAN	Q	97	ENSP00000357152:R97Q	ENSP00000357151:R97Q	R	+	2	0	CD1C	156527776	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.402000	0.02499	-0.414000	0.07495	0.650000	0.86243	CGG		0.363	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		124	347	0	0	0	1	0	124	347				
MVD	4597	broad.mit.edu	37	16	88721747	88721747	+	Missense_Mutation	SNP	C	C	T	rs202128233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88721747C>T	ENST00000301012.3	-	7	786	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	253					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTCAGCTGGGCGAAGCTGGGG	0.642																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(757-759)Gcc>Acc		mevalonate (diphospho) decarboxylase							230.0	174.0	193.0					16																	88721747		2193	4295	6488	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88721747C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.757G>A	16.37:g.88721747C>T	ENSP00000301012:p.Ala253Thr						p.A253T	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	786	-			253					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.757G>A	CCDS10968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.370501|4.370501	0.82573|0.82573	.|.	.|.	ENSG00000167508|ENSG00000167508	ENST00000301012|ENST00000378400	T|.	0.37915|.	1.17|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.161617|.	0.53938|.	D|.	0.000051|.	T|T	0.78400|0.78400	0.4277|0.4277	M|M	0.80422|0.80422	2.495|2.495	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.69078|.	0.997|.	P|.	0.58520|.	0.84|.	T|T	0.82362|0.82362	-0.0495|-0.0495	10|6	0.51188|0.66056	T|D	0.08|0.02	-20.2679|-20.2679	17.6298|17.6298	0.88103|0.88103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|.	P53602|.	MVD1_HUMAN|.	T|H	253|81	ENSP00000301012:A253T|.	ENSP00000301012:A253T|ENSP00000367653:R81H	A|R	-|-	1|2	0|0	MVD|MVD	87249248|87249248	0.982000|0.982000	0.34865|0.34865	0.039000|0.039000	0.18376|0.18376	0.432000|0.432000	0.31715|0.31715	5.257000|5.257000	0.65473|0.65473	2.244000|2.244000	0.73946|0.73946	0.491000|0.491000	0.48974|0.48974	GCC|CGC		0.642	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		8	73	0	0	0	1	0	8	73				
ETV5	2119	broad.mit.edu	37	3	185774871	185774871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185774871G>A	ENST00000306376.5	-	11	1448	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	ETV5_ENST00000434744.1_Missense_Mutation_p.P401L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.P443L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	401					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TACCTCTTCCGGTTCTATCAG	0.473			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1201-1203)cCg>cTg		ets variant 5							88.0	85.0	86.0					3																	185774871		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185774871G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1202C>T	3.37:g.185774871G>A	ENSP00000306894:p.Pro401Leu					ETV5_ENST00000537818.1_Missense_Mutation_p.P443L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.P401L	p.P401L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		11	1448	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		401					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1202C>T	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796945	0.90453	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.58652	0.32;0.32;0.32	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.86282	0.1668	10	0.87932	D	0	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	401;443	P41161;B7Z7D7	ETV5_HUMAN;.	L	401;401;443	ENSP00000306894:P401L;ENSP00000413755:P401L;ENSP00000441737:P443L	ENSP00000306894:P401L	P	-	2	0	ETV5	187257565	1.000000	0.71417	0.958000	0.39756	0.857000	0.48899	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	CCG		0.473	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		39	191	0	0	0	1	0	39	191				
BAG5	9529	broad.mit.edu	37	14	104026472	104026472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104026472T>C	ENST00000445922.2	-	2	1276	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A|APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	344	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCAATATATGTGATCAGAGTT	0.478																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000445922.2																			0				endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24						c.(1030-1032)Aca>Gca		BCL2-associated athanogene 5							90.0	96.0	94.0					14																	104026472		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104026472T>C	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1030A>G	14.37:g.104026472T>C	ENSP00000391713:p.Thr344Ala					BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A	p.T344A	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	1276	-		Melanoma(154;0.155)	344			BAG 4.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.1030A>G	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865222	0.51482	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87491	-2.26;-2.26;-2.26	5.76	5.76	0.90799	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91468	0.5194	10	0.87932	D	0	-26.7047	16.0833	0.81020	0.0:0.0:0.0:1.0	.	344;385	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	A	344;344;385	ENSP00000299204:T344A;ENSP00000391713:T344A;ENSP00000338814:T385A	ENSP00000299204:T344A	T	-	1	0	BAG5	103096225	1.000000	0.71417	0.708000	0.30435	0.026000	0.11368	7.210000	0.77924	2.202000	0.70862	0.533000	0.62120	ACA		0.478	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			135	488	0	0	0	1	0	135	488				
ABHD8	79575	broad.mit.edu	37	19	17405187	17405187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17405187G>A	ENST00000247706.3	-	4	1298	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	353							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGGCGTGGTAGACCTCGTCGC	0.617																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1057-1059)gtC>gtT		abhydrolase domain containing 8							120.0	93.0	102.0					19																	17405187		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405187G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1059C>T	19.37:g.17405187G>A						MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.V353V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1298	-			353					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.1059C>T	CCDS12355.1																																																																																				0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		106	430	0	0	0	1	0	106	430				
NMBR	4829	broad.mit.edu	37	6	142396962	142396962	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142396962C>T	ENST00000258042.1	-	3	1136	c.996G>A	c.(994-996)agG>agA	p.R332R	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	332					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGAAATGCCTCCTGAAGCTTT	0.488																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(994-996)agG>agA		neuromedin B receptor							107.0	102.0	104.0					6																	142396962		2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142396962C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.996G>A	6.37:g.142396962C>T						NMBR_ENST00000480652.1_5'UTR	p.R332R	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	1136	-	Breast(32;0.155)		332					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.996G>A	CCDS5196.1																																																																																				0.488	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			79	372	0	0	0	1	0	79	372				
CLCN6	1185	broad.mit.edu	37	1	11896113	11896113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11896113C>T	ENST00000346436.6	+	18	1935	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	628	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGCACCACGGTCCACCAT	0.582																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1882-1884)aCg>aTg		chloride channel, voltage-sensitive 6							146.0	106.0	119.0					1																	11896113		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11896113C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1883C>T	1.37:g.11896113C>T	ENSP00000234488:p.Thr628Met					CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M|CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M|CLCN6_ENST00000312413.6_3'UTR	p.T628M	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	18	1935	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	628			CBS 1.		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.1883C>T	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872035	0.91587	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.89196	-2.48;-2.48;-2.48	5.71	5.71	0.89125	Cystathionine beta-synthase, core (3);	0.046638	0.85682	D	0.000000	D	0.91626	0.7354	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.92515	0.6020	10	0.87932	D	0	-21.6503	18.8314	0.92141	0.0:1.0:0.0:0.0	.	606;628	F8W9R3;P51797	.;CLCN6_HUMAN	M	628;606;628	ENSP00000234488:T628M;ENSP00000365670:T606M;ENSP00000365679:T628M	ENSP00000234488:T628M	T	+	2	0	CLCN6	11818700	1.000000	0.71417	0.974000	0.42286	0.943000	0.58893	7.487000	0.81328	2.700000	0.92200	0.462000	0.41574	ACG		0.582	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		6	115	0	0	0	1	0	6	115				
RC3H2	54542	broad.mit.edu	37	9	125659639	125659639	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659639A>G	ENST00000373670.1	-	1	750	c.150T>C	c.(148-150)tgT>tgC	p.C50C	RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000423239.2_Silent_p.C50C|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000357244.2_Silent_p.C50C|RC3H2_ENST00000471874.2_Silent_p.C50C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	50					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGTCAAAAGGACAAGCTTTTC	0.403																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(148-150)tgT>tgC		ring finger and CCCH-type domains 2							107.0	102.0	104.0					9																	125659639		1917	4129	6046	SO:0001819	synonymous_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125659639A>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.150T>C	9.37:g.125659639A>G						RC3H2_ENST00000471874.2_Silent_p.C50C|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000423239.2_Silent_p.C50C|RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Silent_p.C50C	p.C50C			Q9HBD1	RC3H2_HUMAN			1	750	-			50					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	37	c.150T>C	CCDS43874.1																																																																																				0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		28	205	0	0	0	1	0	28	205				
NDN	4692	broad.mit.edu	37	15	23931896	23931896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23931896G>A	ENST00000331837.4	-	1	554	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	157	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGCTGGTTAGCCTCAGGTGC	0.627									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(469-471)Cta>Tta		necdin, melanoma antigen (MAGE) family member							35.0	36.0	36.0					15																	23931896		2203	4300	6503	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931896G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.469C>T	15.37:g.23931896G>A							p.L157L	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	554	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	157			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.469C>T	CCDS10014.1																																																																																				0.627	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		7	239	0	0	0	1	0	7	239				
SNX18	112574	broad.mit.edu	37	5	53815541	53815541	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53815541G>T	ENST00000326277.3	+	1	1949	c.1759G>T	c.(1759-1761)Gtc>Ttc	p.V587F	SNX18_ENST00000343017.6_Missense_Mutation_p.V587F|SNX18_ENST00000381410.4_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	587	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGACGCCTGGGTCTTTTCCCT	0.493																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1759-1761)Gtc>Ttc		sorting nexin 18							74.0	75.0	75.0					5																	53815541		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815541G>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1759G>T	5.37:g.53815541G>T	ENSP00000317332:p.Val587Phe					SNX18_ENST00000326277.3_Missense_Mutation_p.V587F|SNX18_ENST00000381410.4_Intron	p.V587F	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	1953	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	587			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.1759G>T	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881811	0.17467	.	.	ENSG00000178996	ENST00000343017;ENST00000326277	T;T	0.14391	2.51;2.62	3.06	0.213	0.15244	.	0.215838	0.39210	N	0.001424	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.20955	0.032	T	0.34329	-0.9833	10	0.87932	D	0	-1.5102	7.3114	0.26477	0.107:0.342:0.5509:0.0	.	587	Q96RF0	SNX18_HUMAN	F	587	ENSP00000342276:V587F;ENSP00000317332:V587F	ENSP00000317332:V587F	V	+	1	0	SNX18	53851298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.078000	0.11375	-0.229000	0.09854	-1.268000	0.01426	GTC		0.493	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			66	247	1	0	5.10652e-33	1	6.04401e-33	66	247				
C17orf85	55421	broad.mit.edu	37	17	3721599	3721599	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3721599G>T	ENST00000389005.4	-	10	1295	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N	C17orf85_ENST00000158149.3_Missense_Mutation_p.T143N	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	423							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGCATACATAGTCATTTTCAT	0.338																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(427-429)aCt>aAt		chromosome 17 open reading frame 85							86.0	86.0	86.0					17																	3721599		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3721599G>T		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1268C>A	17.37:g.3721599G>T	ENSP00000373657:p.Thr423Asn					C17orf85_ENST00000389005.4_Missense_Mutation_p.T423N	p.T143N			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1323	-			423					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.428C>A	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862316	0.91511	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68911	-0.5284	9	0.66056	D	0.02	-16.0792	17.8291	0.88676	0.0:0.0:1.0:0.0	.	423	Q53F19	CQ085_HUMAN	N	423;143	.	ENSP00000158149:T143N	T	-	2	0	C17orf85	3668348	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.855000	0.92236	2.894000	0.99253	0.591000	0.81541	ACT		0.338	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		81	441	1	0	2.05912e-35	1	2.45818e-35	81	441				
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1516-1518)cGc>cAc		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							110.0	111.0	111.0					11																	44080142		1879	4117	5996	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44080142G>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1517G>A	11.37:g.44080142G>A	ENSP00000368109:p.Arg506His						p.R506H	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			13	1573	+			506						Missense_Mutation	SNP	ENST00000378832.1	37	c.1517G>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582545	0.28180	.	.	ENSG00000205126	ENST00000378832	D	0.90620	-2.7	5.61	2.64	0.31445	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.240127	0.43747	N	0.000526	D	0.84129	0.5404	L	0.41492	1.28	0.35045	D	0.760078	B	0.33857	0.429	B	0.34242	0.178	T	0.81411	-0.0945	10	0.39692	T	0.17	-4.0909	7.5089	0.27562	0.3487:0.0:0.6513:0.0	.	506	Q4AC99	1A1L2_HUMAN	H	506	ENSP00000368109:R506H	ENSP00000368109:R506H	R	+	2	0	ACCSL	44036718	0.135000	0.22499	0.329000	0.25429	0.576000	0.36127	1.083000	0.30815	0.366000	0.24427	0.655000	0.94253	CGC		0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		99	475	0	0	0	1	0	99	475				
AOC1	26	broad.mit.edu	37	7	150554915	150554915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554915C>T	ENST00000493429.1	+	4	1941	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	AOC1_ENST00000360937.4_Missense_Mutation_p.R453W|AOC1_ENST00000416793.2_Missense_Mutation_p.R453W|AOC1_ENST00000467291.1_Missense_Mutation_p.R453W			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	453					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GCTGGTGCTGCGGACAACTTC	0.517																																						ENST00000493429.1																			0											c.(1357-1359)Cgg>Tgg		amine oxidase, copper containing 1							67.0	73.0	71.0					7																	150554915		2035	4189	6224	SO:0001583	missense	26							g.chr7:150554915C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1357C>T	7.37:g.150554915C>T	ENSP00000418614:p.Arg453Trp					AOC1_ENST00000467291.1_Missense_Mutation_p.R453W|AOC1_ENST00000360937.4_Missense_Mutation_p.R453W|AOC1_ENST00000416793.2_Missense_Mutation_p.R453W	p.R453W							4	1941	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1357C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939726	0.52972	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.05382	3.45;3.45;3.45;3.45	4.96	4.06	0.47325	Copper amine oxidase, C-terminal (3);	0.082441	0.64402	D	0.000020	T	0.31544	0.0800	M	0.93507	3.425	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.29243	-1.0018	10	0.87932	D	0	-14.8057	10.5331	0.44988	0.3708:0.6292:0.0:0.0	.	453;453	C9J690;P19801	.;ABP1_HUMAN	W	453;453;453;453;329	ENSP00000418614:R453W;ENSP00000418328:R453W;ENSP00000354193:R453W;ENSP00000411613:R453W	ENSP00000354193:R453W	R	+	1	2	ABP1	150185848	0.272000	0.24172	0.975000	0.42487	0.875000	0.50365	0.725000	0.25970	1.419000	0.47118	0.561000	0.74099	CGG		0.517	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		53	245	0	0	0	1	0	53	245				
PER1	5187	broad.mit.edu	37	17	8053110	8053110	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8053110A>G	ENST00000317276.4	-	5	851	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PER1_ENST00000581082.1_Missense_Mutation_p.L205P|PER1_ENST00000354903.5_Missense_Mutation_p.L189P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	205					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATGTGCTCCAGCTCCTCCAG	0.597			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(613-615)cTg>cCg	Other conserved DNA damage response genes	period circadian clock 1							207.0	198.0	201.0					17																	8053110		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053110A>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.614T>C	17.37:g.8053110A>G	ENSP00000314420:p.Leu205Pro					PER1_ENST00000354903.5_Missense_Mutation_p.L189P|PER1_ENST00000581082.1_Missense_Mutation_p.L205P	p.L205P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			5	851	-			205					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.614T>C	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204185	0.79127	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.54279	1.98;0.58	5.55	5.55	0.83447	.	0.074797	0.56097	D	0.000038	T	0.69088	0.3072	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.78314	0.974;0.987;0.991	T	0.72398	-0.4306	10	0.87932	D	0	-11.0552	13.6552	0.62333	1.0:0.0:0.0:0.0	.	205;189;205	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	P	205;189	ENSP00000314420:L205P;ENSP00000346979:L189P	ENSP00000314420:L205P	L	-	2	0	PER1	7993835	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.983000	0.93477	2.118000	0.64928	0.460000	0.39030	CTG		0.597	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			18	1271	0	0	0	1	0	18	1271				
CLASP1	23332	broad.mit.edu	37	2	122220119	122220119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122220119G>A	ENST00000263710.4	-	10	1317	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	310					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTACTACAGGTACATCATCA	0.313																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(928-930)Cct>Tct		cytoplasmic linker associated protein 1							83.0	80.0	81.0					2																	122220119		1851	4101	5952	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122220119G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.928C>T	2.37:g.122220119G>A	ENSP00000263710:p.Pro310Ser					CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S|CLASP1_ENST00000430234.1_5'UTR	p.P310S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			10	1317	-	Renal(3;0.0496)		310					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.928C>T		.	.	.	.	.	.	.	.	.	.	G	23.8	4.459774	0.84317	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T;T	0.66099	-0.15;1.96;1.97;1.94;0.65;1.97;0.5;-0.19	5.13	5.13	0.70059	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.77486	2.375	0.80722	D	1	P;P;P;P	0.49559	0.877;0.925;0.9;0.917	B;P;B;P	0.47075	0.335;0.536;0.412;0.521	T	0.76274	-0.3019	10	0.87932	D	0	-0.6289	17.2951	0.87168	0.0:0.0:1.0:0.0	.	310;310;310;310	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	S	310;310;310;310;79;310;78;79;79	ENSP00000263710:P310S;ENSP00000389372:P310S;ENSP00000380717:P310S;ENSP00000441625:P310S;ENSP00000441770:P79S;ENSP00000386442:P310S;ENSP00000392886:P79S;ENSP00000402101:P79S	ENSP00000263710:P310S	P	-	1	0	CLASP1	121936589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.990000	0.76225	2.824000	0.97209	0.655000	0.94253	CCT		0.313	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		22	46	0	0	0	1	0	22	46				
TTN	7273	broad.mit.edu	37	2	179401007	179401007	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179401007A>G	ENST00000591111.1	-	307	95768	c.95544T>C	c.(95542-95544)tcT>tcC	p.S31848S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S24549S|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Silent_p.S33489S|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31848	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTGGGACATCAGATTTGGGAG	0.413																																						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.(100465-100467)tcT>tcC		titin							85.0	79.0	81.0					2																	179401007		1878	4112	5990	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401007A>G	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.95544T>C	2.37:g.179401007A>G						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Silent_p.S24549S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.S31848S|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA	p.S33489S	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)		357	100691	-			31848			Ig-like 147.		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.100467T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	98	0	0	0	1	0	34	98				
LYPD4	147719	broad.mit.edu	37	19	42342046	42342046	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342046A>T	ENST00000330743.3	-	4	1712	c.501T>A	c.(499-501)gcT>gcA	p.A167A	LYPD4_ENST00000601246.1_Silent_p.A132A|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.A132A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	167	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AACACGTAGAAGCAGCCAAGG	0.488																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(499-501)gcT>gcA		LY6/PLAUR domain containing 4							64.0	62.0	63.0					19																	42342046		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42342046A>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.501T>A	19.37:g.42342046A>T						LYPD4_ENST00000343055.4_Silent_p.A132A|LYPD4_ENST00000601246.1_Silent_p.A132A	p.A167A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1712	-			167			UPAR/Ly6.		Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.501T>A	CCDS12587.1																																																																																				0.488	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		11	203	0	0	0	1	0	11	203				
EML2	24139	broad.mit.edu	37	19	46130084	46130084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46130084G>T	ENST00000245925.3	-	8	670	c.620C>A	c.(619-621)gCt>gAt	p.A207D	EML2_ENST00000587152.1_Missense_Mutation_p.A408D|EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000536630.1_Missense_Mutation_p.A354D|EML2_ENST00000586902.1_5'UTR	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	207	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CACCAATACAGCCTCATTGGA	0.582																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1060-1062)gCt>gAt		echinoderm microtubule associated protein like 2							36.0	32.0	33.0					19																	46130084		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46130084G>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.620C>A	19.37:g.46130084G>T	ENSP00000245925:p.Ala207Asp					EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000245925.3_Missense_Mutation_p.A207D|EML2_ENST00000587152.1_Missense_Mutation_p.A408D	p.A354D	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	11	1199	-		Ovarian(192;0.179)|all_neural(266;0.224)	207					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1061C>A	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285961	0.40394	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.26810	1.71;1.8;4.97	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.181927	0.49305	D	0.000148	T	0.22399	0.0540	N	0.19112	0.55	0.38950	D	0.95832	P;P;B;B;P	0.47409	0.895;0.474;0.181;0.411;0.474	P;B;B;B;B	0.47626	0.552;0.13;0.036;0.075;0.13	T	0.03887	-1.0995	10	0.24483	T	0.36	-14.6841	15.0336	0.71728	0.0:0.0:1.0:0.0	.	207;373;354;365;207	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	D	354;207;408;365	ENSP00000442365:A354D;ENSP00000245925:A207D;ENSP00000382503:A365D	ENSP00000245925:A207D	A	-	2	0	EML2	50821924	1.000000	0.71417	0.943000	0.38184	0.351000	0.29236	7.224000	0.78042	2.397000	0.81536	0.557000	0.71058	GCT		0.582	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		36	148	1	0	4.3181e-19	1	4.80867e-19	36	148				
HAP1	9001	broad.mit.edu	37	17	39881248	39881248	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39881248G>T	ENST00000310778.5	-	12	1730	c.1721C>A	c.(1720-1722)gCt>gAt	p.A574D	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D|HAP1_ENST00000393939.2_Missense_Mutation_p.A497D|HAP1_ENST00000347901.4_Missense_Mutation_p.A522D			P54257	HAP1_HUMAN	huntingtin-associated protein 1	574	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.A522G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCTTCCTCAGCCGGCACCTT	0.632																																						ENST00000393939.2																			1	Substitution - Missense(1)	p.A522G(1)	ovary(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1489-1491)gCt>gAt		huntingtin-associated protein 1							236.0	228.0	231.0					17																	39881248		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881248G>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1721C>A	17.37:g.39881248G>T	ENSP00000309392:p.Ala574Asp					HAP1_ENST00000347901.4_Missense_Mutation_p.A522D|HAP1_ENST00000310778.5_Missense_Mutation_p.A574D|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D|JUP_ENST00000540235.1_Intron	p.A497D			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1499	-		Breast(137;0.000162)	557			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1490C>A		.	.	.	.	.	.	.	.	.	.	G	16.54	3.153146	0.57259	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.38560	1.13;2.9;3.19;3.01;2.91	4.14	3.13	0.36017	.	0.370487	0.19922	N	0.103074	T	0.45175	0.1329	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.63046	0.992;0.992;0.98;0.965	P;P;P;P	0.58391	0.838;0.774;0.745;0.561	T	0.28713	-1.0035	10	0.87932	D	0	-0.869	10.9717	0.47442	0.0:0.0:0.8117:0.1883	.	497;505;522;574	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	D	29;497;574;522;505	ENSP00000404640:A29D;ENSP00000377513:A497D;ENSP00000309392:A574D;ENSP00000334002:A522D;ENSP00000343170:A505D	ENSP00000309392:A574D	A	-	2	0	HAP1	37134774	0.021000	0.18746	0.002000	0.10522	0.019000	0.09904	2.406000	0.44557	1.041000	0.40125	0.511000	0.50034	GCT		0.632	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		95	1951	1	0	2.77807e-22	1	3.14147e-22	95	1951				
CUL9	23113	broad.mit.edu	37	6	43152468	43152468	+	Silent	SNP	C	C	T	rs146357794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43152468C>T	ENST00000252050.4	+	2	504	c.420C>T	c.(418-420)gcC>gcT	p.A140A	CUL9_ENST00000372647.2_Silent_p.A140A|CUL9_ENST00000354495.3_Silent_p.A140A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	140					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						GCCTCACGGCCGCTGTGCTTC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18901	0.0		0.0	False		,,,				2504	0.0					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.(418-420)gcC>gcT		cullin 9		C		0,4406		0,0,2203	66.0	66.0	66.0		420	-3.6	0.8	6	dbSNP_134	66	3,8597	1.2+/-3.3	0,3,4297	no	coding-synonymous	CUL9	NM_015089.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		140/2518	43152468	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43152468C>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.420C>T	6.37:g.43152468C>T						CUL9_ENST00000354495.3_Silent_p.A140A|CUL9_ENST00000372647.2_Silent_p.A140A	p.A140A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			2	504	+			140					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.420C>T	CCDS4890.1																																																																																				0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		92	423	0	0	0	1	0	92	423				
DIP2C	22982	broad.mit.edu	37	10	410494	410494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410494G>A	ENST00000280886.6	-	20	2384	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	766						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCACTGATCGGAGCCCCGGA	0.577																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2296-2298)cCg>cTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							52.0	50.0	51.0					10																	410494		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:410494G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2297C>T	10.37:g.410494G>A	ENSP00000280886:p.Pro766Leu					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L	p.P766L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	20	2384	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	766					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.2297C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961449	0.34565	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.52295	1.62;0.67	5.31	5.31	0.75309	AMP-dependent synthetase/ligase (1);	0.055424	0.64402	D	0.000001	T	0.51856	0.1699	M	0.63843	1.955	0.80722	D	1	B;B	0.30973	0.302;0.034	B;B	0.34180	0.177;0.072	T	0.54132	-0.8339	10	0.54805	T	0.06	-22.1795	18.9703	0.92712	0.0:0.0:1.0:0.0	.	87;766	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	L	766;87	ENSP00000280886:P766L;ENSP00000443826:P87L	ENSP00000280886:P766L	P	-	2	0	DIP2C	400494	1.000000	0.71417	0.891000	0.34965	0.035000	0.12851	6.746000	0.74866	2.484000	0.83849	0.484000	0.47621	CCG		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		53	256	0	0	0	1	0	53	256				
NOV	4856	broad.mit.edu	37	8	120430340	120430340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430340G>A	ENST00000259526.3	+	3	580	c.353G>A	c.(352-354)cGc>cAc	p.R118H	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GTCATCTACCGCAGTGGAGAG	0.498																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(352-354)cGc>cAc		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101.0	105.0	104.0					8																	120430340		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120430340G>A	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.353G>A	8.37:g.120430340G>A	ENSP00000259526:p.Arg118His						p.R118H	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	580	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		118			VWFC.			Missense_Mutation	SNP	ENST00000259526.3	37	c.353G>A	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260726	0.80246	.	.	ENSG00000136999	ENST00000259526	T	0.72505	-0.66	5.51	2.63	0.31362	von Willebrand factor, type C (3);	0.251742	0.42821	N	0.000660	T	0.61776	0.2374	L	0.50333	1.59	0.40710	D	0.982568	B	0.24368	0.102	B	0.23419	0.046	T	0.56498	-0.7969	10	0.44086	T	0.13	-19.3073	9.239	0.37484	0.219:0.0:0.781:0.0	.	118	P48745	NOV_HUMAN	H	118	ENSP00000259526:R118H	ENSP00000259526:R118H	R	+	2	0	NOV	120499521	0.974000	0.33945	0.988000	0.46212	0.993000	0.82548	0.960000	0.29253	0.373000	0.24621	0.561000	0.74099	CGC		0.498	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		35	306	0	0	0	1	0	35	306				
CNTN6	27255	broad.mit.edu	37	3	1394015	1394015	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1394015C>A	ENST00000446702.2	+	12	1999	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I|CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I			Q9UQ52	CNTN6_HUMAN	contactin 6	458	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAATATTTCTCTTGGAGGA	0.323																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1372-1374)Ctc>Atc		contactin 6							55.0	56.0	56.0					3																	1394015		2203	4299	6502	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1394015C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1372C>A	3.37:g.1394015C>A	ENSP00000407822:p.Leu458Ile					CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I|CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I	p.L458I			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	12	1999	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	458			Ig-like C2-type 5.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1372C>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158095	0.01686	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.65364	-0.15;-0.15;-0.15	5.68	0.44	0.16572	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.322819	0.22167	N	0.063700	T	0.21590	0.0520	N	0.02158	-0.66	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.22626	-1.0211	10	0.02654	T	1	.	0.6072	0.00755	0.4032:0.2267:0.1564:0.2138	.	458	Q9UQ52	CNTN6_HUMAN	I	458;386;458	ENSP00000407822:L458I;ENSP00000442791:L386I;ENSP00000341882:L458I	ENSP00000341882:L458I	L	+	1	0	CNTN6	1369015	0.012000	0.17670	0.005000	0.12908	0.785000	0.44390	0.046000	0.14035	0.385000	0.24970	0.585000	0.79938	CTC		0.323	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		35	184	1	0	1.41851e-31	1	1.671e-31	35	184				
DIP2A	23181	broad.mit.edu	37	21	47931370	47931370	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931370C>T	ENST00000417564.2	+	8	966	c.945C>T	c.(943-945)agC>agT	p.S315S	DIP2A_ENST00000318711.7_Silent_p.S316S|DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000427143.2_Silent_p.S251S|DIP2A_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000457905.3_Silent_p.S315S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	315					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTGAGGGAAGCGAGACGAGTG	0.532																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(946-948)agC>agT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							33.0	35.0	34.0					21																	47931370		1972	4155	6127	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47931370C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.945C>T	21.37:g.47931370C>T						DIP2A_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000417564.2_Silent_p.S315S|DIP2A_ENST00000457905.3_Silent_p.S315S|DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000427143.2_Silent_p.S251S	p.S316S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	8	1131	+	Breast(49;0.0933)		315					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.948C>T	CCDS46655.1																																																																																				0.532	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		12	84	0	0	0	1	0	12	84				
ZNF716	441234	broad.mit.edu	37	7	57529401	57529401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57529401G>T	ENST00000420713.1	+	4	1346	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAATGTGAAGAATGTGGCAA	0.403																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(1234-1236)Gaa>Taa		zinc finger protein 716							27.0	28.0	28.0					7																	57529401		692	1591	2283	SO:0001587	stop_gained	441234							g.chr7:57529401G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1234G>T	7.37:g.57529401G>T	ENSP00000394248:p.Glu412*						p.E412*	NM_001159279.1	NP_001152751.1					4	1346	+									Nonsense_Mutation	SNP	ENST00000420713.1	37	c.1234G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659408	0.67586	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	.	.	.	X	412;400	.	ENSP00000387687:E400X	E	+	1	0	ZNF716	57533343	0.000000	0.05858	0.358000	0.25811	0.360000	0.29518	-0.610000	0.05629	0.300000	0.22699	0.306000	0.20318	GAA		0.403	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		24	193	1	0	1.85244e-09	1	1.95034e-09	24	193				
TRAPPC1	58485	broad.mit.edu	37	17	7834371	7834371	+	Silent	SNP	G	G	A	rs150887254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7834371G>A	ENST00000303731.4	-	3	382	c.267C>T	c.(265-267)ggC>ggT	p.G89G	CNTROB_ENST00000563694.1_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000565740.1_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.G89G|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000380262.3_5'Flank|CNTROB_ENST00000380255.3_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	89					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				TGGGTCCCACGCCCAAGTCAG	0.562																																						ENST00000303731.4																			0				breast(1)|lung(2)	3						c.(265-267)ggC>ggT		trafficking protein particle complex 1		G	,	3,4403	6.2+/-15.9	0,3,2200	103.0	91.0	95.0		267,267	-0.8	1.0	17	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRAPPC1	NM_001166621.1,NM_021210.4	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	89/146,89/146	7834371	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	58485				ER to Golgi vesicle-mediated transport	endoplasmic reticulum		g.chr17:7834371G>A	AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.267C>T	17.37:g.7834371G>A						TRAPPC1_ENST00000540486.1_Silent_p.G89G	p.G89G	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN			3	382	-		Prostate(122;0.173)	89					D3DTR0	Silent	SNP	ENST00000303731.4	37	c.267C>T	CCDS11125.1																																																																																				0.562	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226975.2	NM_021210		12	329	0	0	0	1	0	12	329				
DDX4	54514	broad.mit.edu	37	5	55110988	55110988	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55110988G>T	ENST00000505374.1	+	20	2067	c.1975G>T	c.(1975-1977)Gta>Tta	p.V659L	DDX4_ENST00000353507.5_Missense_Mutation_p.V625L|DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L|DDX4_ENST00000511853.1_Missense_Mutation_p.V510L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	659	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTAGTAAAAGTATTGACAGA	0.348																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1975-1977)Gta>Tta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							129.0	130.0	130.0					5																	55110988		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55110988G>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1975G>T	5.37:g.55110988G>T	ENSP00000424838:p.Val659Leu					DDX4_ENST00000511853.1_Missense_Mutation_p.V510L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L|DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000353507.5_Missense_Mutation_p.V625L	p.V659L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			20	2067	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	659			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1975G>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111772	0.37242	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.54	4.67	0.58626	Helicase, C-terminal (1);	0.129390	0.52532	D	0.000067	D	0.86121	0.5857	N	0.00841	-1.15	0.42344	D	0.99234	B;P;P;D	0.71674	0.189;0.949;0.562;0.998	B;P;B;D	0.75484	0.155;0.53;0.32;0.986	D	0.87474	0.2416	10	0.38643	T	0.18	-13.0889	10.3328	0.43833	0.1493:0.0:0.8507:0.0	.	639;510;625;659	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	625;639;659;625;510	ENSP00000334167:V625L;ENSP00000425359:V639L;ENSP00000424838:V659L;ENSP00000347087:V625L;ENSP00000423123:V510L	ENSP00000334167:V625L	V	+	1	0	DDX4	55146745	1.000000	0.71417	0.995000	0.50966	0.030000	0.12068	3.229000	0.51278	1.345000	0.45676	0.561000	0.74099	GTA		0.348	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		110	532	1	0	1.07149e-41	1	1.30274e-41	110	532				
NOS3	4846	broad.mit.edu	37	7	150704352	150704352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150704352G>T	ENST00000297494.3	+	17	2457	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGGCCCAGGCTGCCTTCC	0.682																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2098-2100)caG>caT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						16.0	22.0	20.0					7																	150704352		2199	4287	6486	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704352G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2100G>T	7.37:g.150704352G>T	ENSP00000297494:p.Gln700His					NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	p.Q700H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2457	+	all_neural(206;0.219)		700			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.2100G>T	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305078	0.40795	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.59638	0.25;0.25	5.43	3.38	0.38709	Flavodoxin/nitric oxide synthase (1);	0.326899	0.25511	N	0.030170	T	0.45034	0.1322	L	0.38531	1.155	0.80722	D	1	P;P	0.42785	0.553;0.79	B;B	0.42738	0.396;0.396	T	0.38650	-0.9651	10	0.46703	T	0.11	-17.7321	4.8809	0.13679	0.3627:0.0:0.6373:0.0	.	494;700	E7ESA7;P29474	.;NOS3_HUMAN	H	700;494	ENSP00000297494:Q700H;ENSP00000417143:Q494H	ENSP00000297494:Q700H	Q	+	3	2	NOS3	150335285	0.736000	0.28164	0.998000	0.56505	0.964000	0.63967	0.549000	0.23329	1.304000	0.44892	0.561000	0.74099	CAG		0.682	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		47	187	1	0	2.77807e-22	1	3.14147e-22	47	187				
SRPK1	6732	broad.mit.edu	37	6	35842022	35842022	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35842022T>G	ENST00000373825.2	-	7	858	c.573A>C	c.(571-573)aaA>aaC	p.K191N	SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N|SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N|SRPK1_ENST00000373821.2_5'UTR					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTGAATAATTTTTTTGACAC	0.353																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(571-573)aaA>aaC		SRSF protein kinase 1							89.0	82.0	84.0					6																	35842022		1843	4100	5943	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35842022T>G	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.573A>C	6.37:g.35842022T>G	ENSP00000362931:p.Lys191Asn					SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N|SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N	p.K191N			Q96SB4	SRPK1_HUMAN			7	858	-			191			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.573A>C	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834841	0.50951	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.17	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.30479	0.0766	N	0.12961	0.28	0.43846	D	0.996439	B;P	0.36660	0.141;0.564	B;B	0.37480	0.087;0.251	T	0.29458	-1.0011	9	0.45353	T	0.12	-18.5937	5.8954	0.18937	0.0:0.1843:0.1347:0.681	.	175;191	B4DS61;Q96SB4	.;SRPK1_HUMAN	N	191;207;175;84	ENSP00000362931:K191N;ENSP00000354674:K207N;ENSP00000391069:K175N;ENSP00000362928:K84N	ENSP00000354674:K207N	K	-	3	2	SRPK1	35950000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.950000	0.40323	1.151000	0.42436	0.533000	0.62120	AAA		0.353	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		17	65	0	0	0	1	0	17	65				
NFATC1	4772	broad.mit.edu	37	18	77171307	77171307	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171307C>A	ENST00000427363.2	+	2	1032	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000253506.5_Silent_p.P344P|NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000329101.4_Silent_p.P331P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	344					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AGCAGCCGCCCTCAGTGGCGC	0.687																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1030-1032)ccC>ccA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							28.0	29.0	29.0					18																	77171307		2203	4295	6498	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171307C>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1032C>A	18.37:g.77171307C>A						NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000329101.4_Silent_p.P331P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000427363.2_Silent_p.P344P	p.P344P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1401	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	344					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.1032C>A																																																																																					0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		54	280	1	0	1.32667e-27	1	1.53764e-27	54	280				
DZIP3	9666	broad.mit.edu	37	3	108366893	108366893	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108366893A>C	ENST00000361582.3	+	16	2126	c.1896A>C	c.(1894-1896)gaA>gaC	p.E632D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	632					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTGCAGAAATTAATAAAG	0.348																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1894-1896)gaA>gaC		DAZ interacting zinc finger protein 3							103.0	110.0	108.0					3																	108366893		2203	4299	6502	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108366893A>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1896A>C	3.37:g.108366893A>C	ENSP00000355028:p.Glu632Asp					DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	p.E632D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			16	2126	+			632					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1896A>C	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380981	0.61845	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.33216	1.42;1.42;1.42	5.09	3.89	0.44902	.	0.000000	0.64402	D	0.000020	T	0.42787	0.1218	L	0.47716	1.5	0.29496	N	0.855292	D;D;D	0.67145	0.984;0.996;0.993	D;D;D	0.75484	0.956;0.986;0.967	T	0.27806	-1.0063	10	0.36615	T	0.2	-17.6589	7.8465	0.29428	0.9054:0.0:0.0946:0.0	.	250;632;632	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	D	632	ENSP00000355028:E632D;ENSP00000418115:E632D;ENSP00000419981:E632D	ENSP00000355028:E632D	E	+	3	2	DZIP3	109849583	0.999000	0.42202	1.000000	0.80357	0.721000	0.41392	0.708000	0.25719	0.919000	0.36945	0.524000	0.50904	GAA		0.348	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		95	412	0	0	0	1	0	95	412				
MTPAP	55149	broad.mit.edu	37	10	30611535	30611535	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30611535G>A	ENST00000263063.4	-	6	1047	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.T465I	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	335					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCGGAACTTGTCAAGGCAAT	0.373																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1393-1395)aCa>aTa		mitochondrial poly(A) polymerase							40.0	40.0	40.0					10																	30611535		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30611535G>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1004C>T	10.37:g.30611535G>A	ENSP00000263063:p.Thr335Ile					MTPAP_ENST00000263063.3_Missense_Mutation_p.T335I|MTPAP_ENST00000488290.1_5'UTR	p.T465I			Q9NVV4	PAPD1_HUMAN			7	1393	-			335			PAP-associated.		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1394C>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799941	0.31869	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.40225	1.04;1.04	5.66	3.33	0.38152	.	0.249755	0.45867	D	0.000323	T	0.19248	0.0462	N	0.08118	0	0.29088	N	0.882245	P;B	0.45011	0.848;0.004	B;B	0.41646	0.362;0.002	T	0.05616	-1.0874	10	0.23891	T	0.37	-24.4344	4.2878	0.10863	0.0:0.2656:0.1765:0.5579	.	465;335	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	I	465;335	ENSP00000350820:T465I;ENSP00000263063:T335I	ENSP00000263063:T335I	T	-	2	0	MTPAP	30651541	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.778000	0.26732	0.509000	0.28195	-0.493000	0.04662	ACA		0.373	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		35	119	0	0	0	1	0	35	119				
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A	rs566389840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCAACACCGAAAGGGACGA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20601	0.0		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3049-3051)Gaa>Aaa		thrombospondin 1	Becaplermin(DB00102)						205.0	208.0	207.0					15																	39885651		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885651G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3049G>A	15.37:g.39885651G>A	ENSP00000260356:p.Glu1017Lys						p.E1017K	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3214	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1017			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3049G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		55	1254	0	0	0	1	0	55	1254				
SIRPB1	10326	broad.mit.edu	37	20	1552659	1552659	+	Missense_Mutation	SNP	G	G	A	rs150061145	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552659G>A	ENST00000381605.4	-	3	522	c.458C>T	c.(457-459)tCg>tTg	p.S153L	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	153	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CGCAGGGCCCGATACCACGGG	0.517													.|||	13	0.00259585	0.0083	0.0014	5008	,	,		19290	0.001		0.0	False		,,,				2504	0.0					ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(457-459)tCg>tTg		signal-regulatory protein beta 1		A	,LEU/SER	11,4395		0,11,2192	94.0	88.0	90.0		,458	0.4	0.0	20	dbSNP_134	90	5,8595		0,5,4295	no	intron,missense	SIRPB1	NM_001083910.2,NM_006065.3	,145	0,16,6487	AA,AG,GG		0.0581,0.2497,0.123	,benign	,153/399	1552659	16,12990	2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552659G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.458C>T	20.37:g.1552659G>A	ENSP00000371018:p.Ser153Leu					SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	p.S153L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			3	522	-			153			Ig-like C1-type 1.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.458C>T	CCDS13019.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	7.359	0.624406	0.14193	0.002497	5.81E-4	ENSG00000101307	ENST00000381605	T	0.00605	6.27	2.47	0.402	0.16344	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.340210	0.04873	N	0.446205	T	0.00875	0.0029	M	0.79805	2.47	0.09310	N	1	B	0.30482	0.281	B	0.16289	0.015	T	0.55379	-0.8150	10	0.16896	T	0.51	.	6.5628	0.22495	0.3001:0.0:0.6999:0.0	.	153	O00241	SIRB1_HUMAN	L	153	ENSP00000371018:S153L	ENSP00000371018:S153L	S	-	2	0	SIRPB1	1500659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.036000	0.12185	0.003000	0.14656	-1.489000	0.00976	TCG		0.517	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		16	444	0	0	0	1	0	16	444				
S100A11	6282	broad.mit.edu	37	1	152005293	152005293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152005293T>C	ENST00000271638.2	-	3	282	c.163A>G	c.(163-165)Aag>Gag	p.K55E	S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	55	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGGTCCTTCTGGTTCTGC	0.403																																					Colon(152;1751 1834 12462 21158 46902)	ENST00000271638.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(163-165)Aag>Gag		S100 calcium binding protein A11							67.0	65.0	66.0					1																	152005293		2203	4300	6503	SO:0001583	missense	6282				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding	g.chr1:152005293T>C	D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.163A>G	1.37:g.152005293T>C	ENSP00000271638:p.Lys55Glu					S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	p.K55E	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	282	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		55			EF-hand 2.		Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	37	c.163A>G	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742281	0.69418	.	.	ENSG00000163191	ENST00000271638	T	0.06768	3.26	5.09	5.09	0.68999	EF-hand-like domain (1);	0.180386	0.38720	N	0.001594	T	0.21062	0.0507	M	0.91818	3.245	0.45914	D	0.998756	D	0.62365	0.991	P	0.58620	0.842	T	0.05419	-1.0886	10	0.62326	D	0.03	.	11.5407	0.50665	0.0:0.0:0.0:1.0	.	55	P31949	S10AB_HUMAN	E	55	ENSP00000271638:K55E	ENSP00000271638:K55E	K	-	1	0	S100A11	150271917	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.351000	0.44071	2.046000	0.60703	0.402000	0.26972	AAG		0.403	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	NM_005620		40	358	0	0	0	1	0	40	358				
MIS18BP1	55320	broad.mit.edu	37	14	45687562	45687562	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45687562T>C	ENST00000310806.4	-	12	3223	c.2765A>G	c.(2764-2766)tAc>tGc	p.Y922C		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	922	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATTTTCCATGTATTTCCTCTG	0.443																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2764-2766)tAc>tGc		MIS18 binding protein 1							124.0	120.0	121.0					14																	45687562		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687562T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2765A>G	14.37:g.45687562T>C	ENSP00000309790:p.Tyr922Cys						p.Y922C	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			12	3223	-			922			SANT.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2765A>G	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901626	0.52227	.	.	ENSG00000129534	ENST00000310806	T	0.57752	0.38	5.53	3.06	0.35304	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.269744	0.43919	D	0.000502	T	0.65770	0.2723	M	0.71581	2.175	0.46376	D	0.99901	D	0.76494	0.999	D	0.76071	0.987	T	0.65809	-0.6078	10	0.87932	D	0	-0.2962	6.319	0.21206	0.1408:0.0806:0.0:0.7786	.	922	Q6P0N0	M18BP_HUMAN	C	922	ENSP00000309790:Y922C	ENSP00000309790:Y922C	Y	-	2	0	MIS18BP1	44757312	0.997000	0.39634	0.779000	0.31741	0.697000	0.40408	2.731000	0.47343	0.895000	0.36342	0.477000	0.44152	TAC		0.443	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			53	488	0	0	0	1	0	53	488				
CST3	1471	broad.mit.edu	37	20	23614613	23614613	+	Silent	SNP	G	G	T	rs1135147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23614613G>T	ENST00000398411.1	-	3	463	c.381C>A	c.(379-381)atC>atA	p.I127I	CST3_ENST00000376925.3_Silent_p.I127I|CST3_ENST00000398409.1_Silent_p.I127I|RP11-218C14.8_ENST00000602977.1_lincRNA			P01034	CYTC_HUMAN	cystatin C	127					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACAGCGTAGATCTGGAAAG	0.532																																						ENST00000398411.1																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(379-381)atC>atA		cystatin C							158.0	122.0	134.0					20																	23614613		2203	4300	6503	SO:0001819	synonymous_variant	1471				defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding	g.chr20:23614613G>T		CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.381C>A	20.37:g.23614613G>T						CST3_ENST00000376925.3_Silent_p.I127I|CST3_ENST00000398409.1_Silent_p.I127I	p.I127I			P01034	CYTC_HUMAN			3	463	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		127					B2R5J9|D3DW42|Q6FGW9	Silent	SNP	ENST00000398411.1	37	c.381C>A	CCDS13158.1																																																																																				0.532	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099		9	282	1	0	0.000442599	1	0.000448314	9	282				
EDRF1	26098	broad.mit.edu	37	10	127442353	127442353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127442353C>T	ENST00000356792.4	+	24	3716	c.3484C>T	c.(3484-3486)Cgg>Tgg	p.R1162W	C10orf137_ENST00000337623.3_Missense_Mutation_p.R1128W|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGAGTCTCGGTTGTCATT	0.393																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(3382-3384)Cgg>Tgg		chromosome 10 open reading frame 137							147.0	137.0	141.0					10																	127442353		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127442353C>T																												ENST00000356792.4:c.3484C>T	10.37:g.127442353C>T	ENSP00000349244:p.Arg1162Trp					C10orf137_ENST00000356792.4_Missense_Mutation_p.R1162W	p.R1128W	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			23	3487	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	1162					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.3382C>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748506	0.69533	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	.	0.054356	0.64402	D	0.000001	T	0.61590	0.2359	M	0.68952	2.095	0.54753	D	0.999982	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.70935	0.9;0.971;0.928	T	0.64445	-0.6406	10	0.87932	D	0	.	14.4869	0.67624	0.156:0.844:0.0:0.0	.	1162;509;1128	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	W	1162;1128	ENSP00000349244:R1162W;ENSP00000336727:R1128W	ENSP00000336727:R1128W	R	+	1	2	C10orf137	127432343	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	3.843000	0.55865	2.627000	0.88993	0.655000	0.94253	CGG		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			65	303	0	0	0	1	0	65	303				
GAL3ST1	9514	broad.mit.edu	37	22	30951676	30951676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951676G>A	ENST00000402321.1	-	3	853	c.536C>T	c.(535-537)cCg>cTg	p.P179L	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	179					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGGCACCACCGGCCCGAAGTA	0.652																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(535-537)cCg>cTg		galactose-3-O-sulfotransferase 1							53.0	55.0	54.0					22																	30951676		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951676G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.536C>T	22.37:g.30951676G>A	ENSP00000385735:p.Pro179Leu					GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L	p.P179L			Q99999	G3ST1_HUMAN			3	853	-			179					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.536C>T	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304641	0.23736	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282	T;T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.25	4.02	0.46733	.	0.516617	0.20886	N	0.083911	T	0.04770	0.0129	N	0.02751	-0.505	0.21579	N	0.999634	B	0.06786	0.001	B	0.04013	0.001	T	0.41142	-0.9525	10	0.10636	T	0.68	-13.4125	8.4766	0.33016	0.0979:0.2798:0.6223:0.0	.	179	Q99999	G3ST1_HUMAN	L	179;179;179;179;179;179;179;179;180;179;179	ENSP00000385825:P179L;ENSP00000385735:P179L;ENSP00000384122:P179L;ENSP00000384388:P179L;ENSP00000343234:P179L;ENSP00000385207:P179L;ENSP00000402587:P179L;ENSP00000390545:P179L;ENSP00000395080:P180L;ENSP00000405017:P179L;ENSP00000401426:P179L	ENSP00000343234:P179L	P	-	2	0	GAL3ST1	29281676	0.006000	0.16342	0.044000	0.18714	0.959000	0.62525	1.643000	0.37217	2.462000	0.83206	0.491000	0.48974	CCG		0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		99	418	0	0	0	1	0	99	418				
WBP2	23558	broad.mit.edu	37	17	73844721	73844721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73844721G>A	ENST00000591399.1	-	5	751	c.327C>T	c.(325-327)tcC>tcT	p.S109S	WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000344296.4_Silent_p.S87S|WBP2_ENST00000254806.3_Silent_p.S109S|WBP2_ENST00000590221.1_Silent_p.S109S|WBP2_ENST00000590450.1_5'Flank|WBP2_ENST00000585462.1_Silent_p.S87S			Q969T9	WBP2_HUMAN	WW domain binding protein 2	109					cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAACTTGTAGGAAGCAGAGC	0.517											OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000591399.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(325-327)tcC>tcT		WW domain binding protein 2							54.0	46.0	48.0					17																	73844721		2203	4300	6503	SO:0001819	synonymous_variant	23558						protein binding	g.chr17:73844721G>A	U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.327C>T	17.37:g.73844721G>A			OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1148	WBP2_ENST00000254806.3_Silent_p.S109S|WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000590221.1_Silent_p.S109S|WBP2_ENST00000585462.1_Silent_p.S87S|WBP2_ENST00000344296.4_Silent_p.S87S	p.S109S			Q969T9	WBP2_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	751	-			109					O95638	Silent	SNP	ENST00000591399.1	37	c.327C>T	CCDS11731.1																																																																																				0.517	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478		19	111	0	0	0	1	0	19	111				
ZBTB21	49854	broad.mit.edu	37	21	43411317	43411317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411317G>A	ENST00000310826.5	-	3	3071	c.2888C>T	c.(2887-2889)gCt>gTt	p.A963V	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.A762V|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A963V|ZBTB21_ENST00000398511.3_Missense_Mutation_p.A963V	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	963					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TTCCTCTGAAGCCTGAGACAT	0.507																																						ENST00000310826.5																			0											c.(2887-2889)gCt>gTt		zinc finger and BTB domain containing 21							84.0	83.0	83.0					21																	43411317		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411317G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2888C>T	21.37:g.43411317G>A	ENSP00000308759:p.Ala963Val					ZBTB21_ENST00000398511.3_Missense_Mutation_p.A963V|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A963V|ZBTB21_ENST00000398505.3_Missense_Mutation_p.A762V	p.A963V	NM_001098402.1	NP_001091872.1					3	3071	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2888C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771546	0.31320	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08008	3.4;3.14;3.14;3.14	5.5	5.5	0.81552	Zinc finger, C2H2 (1);	0.163245	0.41712	D	0.000835	T	0.06645	0.0170	N	0.19112	0.55	0.26484	N	0.97506	B;B	0.32753	0.383;0.062	B;B	0.29716	0.106;0.011	T	0.31081	-0.9956	10	0.41790	T	0.15	-12.3294	14.2718	0.66155	0.0:0.0:0.8512:0.1488	.	762;963	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	V	762;963;963;963	ENSP00000381517:A762V;ENSP00000308759:A963V;ENSP00000381512:A963V;ENSP00000381523:A963V	ENSP00000308759:A963V	A	-	2	0	ZNF295	42284386	1.000000	0.71417	0.923000	0.36655	0.867000	0.49689	6.072000	0.71238	2.593000	0.87608	0.655000	0.94253	GCT		0.507	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		49	432	0	0	0	1	0	49	432				
NASP	4678	broad.mit.edu	37	1	46083795	46083795	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46083795T>C	ENST00000350030.3	+	15	2436	c.2349T>C	c.(2347-2349)gtT>gtC	p.V783V	NASP_ENST00000372052.4_Silent_p.V417V|CCDC17_ENST00000464739.1_5'Flank|NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000351223.3_Silent_p.V444V|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	783					blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGCTACAGTTGAAAGCACTG	0.483																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(2347-2349)gtT>gtC		nuclear autoantigenic sperm protein (histone-binding)							40.0	38.0	38.0					1																	46083795		2203	4299	6502	SO:0001819	synonymous_variant	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46083795T>C	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.2349T>C	1.37:g.46083795T>C						NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000351223.3_Silent_p.V444V|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000372052.4_Silent_p.V417V	p.V783V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			15	2436	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		783					A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Silent	SNP	ENST00000350030.3	37	c.2349T>C	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.621|9.621	1.133752|1.133752	0.21123|0.21123	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000534450	.|.	.|.	.|.	5.27|5.27	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|.	0.54013|.	0.1832|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48007|.	-0.9072|.	4|.	.|.	.|.	.|.	-2.7206|-2.7206	5.8944|5.8944	0.18931|0.18931	0.1872:0.0834:0.0:0.7294|0.1872:0.0834:0.0:0.7294	.|.	.|.	.|.	.|.	S|R	283|170	.|.	.|.	L|X	+|+	2|1	0|0	NASP|NASP	45856382|45856382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.149000|1.149000	0.31626|0.31626	0.954000|0.954000	0.37851|0.37851	0.460000|0.460000	0.39030|0.39030	TTG|TGA		0.483	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		10	38	0	0	0	1	0	10	38				
CNKSR3	154043	broad.mit.edu	37	6	154727608	154727608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154727608C>T	ENST00000607772.1	-	13	2092	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	CNKSR3_ENST00000433165.2_Silent_p.T341T|CNKSR3_ENST00000479339.1_Silent_p.T436T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	516	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATGGAATCGTGGCGCTGC	0.587																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1546-1548)acG>acA		CNKSR family member 3							147.0	122.0	131.0					6																	154727608		2203	4300	6503	SO:0001819	synonymous_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727608C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1548G>A	6.37:g.154727608C>T						CNKSR3_ENST00000433165.2_Silent_p.T341T|CNKSR3_ENST00000479339.1_Silent_p.T436T	p.T516T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	2092	-		Ovarian(120;0.196)	516			DUF1170.		Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	c.1548G>A	CCDS5246.1																																																																																				0.587	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		103	531	0	0	0	1	0	103	531				
TTYH2	94015	broad.mit.edu	37	17	72239532	72239532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239532C>T	ENST00000269346.4	+	5	729	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	219						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTACCTCCTGCTCTTTATCCT	0.622																																						ENST00000269346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(655-657)Ctc>Ttc		tweety family member 2							238.0	178.0	198.0					17																	72239532		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72239532C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.655C>T	17.37:g.72239532C>T	ENSP00000269346:p.Leu219Phe					TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F|TTYH2_ENST00000534346.1_3'UTR	p.L219F	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN			5	729	+			219					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.655C>T	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489369	0.44249	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.17370	2.28;2.28	5.25	2.17	0.27698	.	0.127696	0.53938	N	0.000052	T	0.27524	0.0676	M	0.88450	2.955	0.80722	D	1	P;P	0.45634	0.752;0.863	B;P	0.45506	0.393;0.483	T	0.03068	-1.1076	10	0.66056	D	0.02	-10.2815	5.8943	0.18931	0.1365:0.6405:0.0:0.223	.	198;219	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	F	219;198	ENSP00000269346:L219F;ENSP00000433089:L198F	ENSP00000269346:L219F	L	+	1	0	TTYH2	69751127	1.000000	0.71417	0.913000	0.36048	0.929000	0.56500	2.743000	0.47442	0.230000	0.21059	-0.181000	0.13052	CTC		0.622	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			97	407	0	0	0	1	0	97	407				
LOC728715	728715	broad.mit.edu	37	12	9715589	9715589	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9715589T>C	ENST00000520314.1	+	0	2784																											TGTTGGGATGTTCTTTGAAGC	0.438																																						ENST00000520314.1																			0																																																			0							g.chr12:9715589T>C																													12.37:g.9715589T>C														0	2784	+									RNA	SNP	ENST00000520314.1	37																																																																																						0.438	RP11-726G1.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000381543.1			20	61	0	0	0	1	0	20	61				
LRP5	4041	broad.mit.edu	37	11	68153814	68153814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68153814G>A	ENST00000294304.7	+	6	1152	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	349	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGCCCGGCGGACGGACCTA	0.662																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1045-1047)cGg>cAg		low density lipoprotein receptor-related protein 5							45.0	38.0	41.0					11																	68153814		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68153814G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1046G>A	11.37:g.68153814G>A	ENSP00000294304:p.Arg349Gln						p.R349Q	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1152	+			349			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1046G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338204	0.95758	.	.	ENSG00000162337	ENST00000294304	D	0.91464	-2.85	3.81	3.81	0.43845	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.45361	U	0.000362	D	0.94742	0.8303	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.94779	0.7952	10	0.48119	T	0.1	.	16.3309	0.83014	0.0:0.0:1.0:0.0	.	349	O75197	LRP5_HUMAN	Q	349	ENSP00000294304:R349Q	ENSP00000294304:R349Q	R	+	2	0	LRP5	67910390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	2.177000	0.69029	0.449000	0.29647	CGG		0.662	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		14	318	0	0	0	1	0	14	318				
ARF4	378	broad.mit.edu	37	3	57561333	57561333	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57561333G>T	ENST00000303436.6	-	5	665	c.398C>A	c.(397-399)gCt>gAt	p.A133D	ARF4_ENST00000489843.1_Missense_Mutation_p.A24D|ARF4_ENST00000496292.1_Missense_Mutation_p.A106D	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	133					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GATGGCCATAGCATTTGGCAA	0.383																																						ENST00000303436.6																			0				large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(397-399)gCt>gAt		ADP-ribosylation factor 4							114.0	105.0	108.0					3																	57561333		2203	4300	6503	SO:0001583	missense	378				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	g.chr3:57561333G>T	M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.398C>A	3.37:g.57561333G>T	ENSP00000306010:p.Ala133Asp					ARF4_ENST00000489843.1_Missense_Mutation_p.A24D|ARF4_ENST00000496292.1_Missense_Mutation_p.A106D	p.A133D	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)	5	665	-			133					B2R7J7|P21371	Missense_Mutation	SNP	ENST00000303436.6	37	c.398C>A	CCDS2884.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608893	0.96637	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	T;T	0.69435	-0.4;-0.4	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.977	D	0.94091	0.7353	10	0.87932	D	0	-11.9416	20.5269	0.99230	0.0:0.0:1.0:0.0	.	106;133	C9JAK5;P18085	.;ARF4_HUMAN	D	133;106	ENSP00000306010:A133D;ENSP00000417501:A106D	ENSP00000306010:A133D	A	-	2	0	ARF4	57536373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.770000	0.98971	2.859000	0.98148	0.591000	0.81541	GCT		0.383	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660		65	279	1	0	8.52622e-23	1	9.66497e-23	65	279				
ZC3H18	124245	broad.mit.edu	37	16	88688650	88688650	+	Silent	SNP	G	G	A	rs370135967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88688650G>A	ENST00000301011.5	+	9	1721	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	507						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1519-1521)ccG>ccA		zinc finger CCCH-type containing 18		G		0,4396		0,0,2198	50.0	52.0	52.0		1521	-11.3	0.1	16		52	1,8599		0,1,4299	no	coding-synonymous	ZC3H18	NM_144604.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		507/954	88688650	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688650G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1521G>A	16.37:g.88688650G>A						ZC3H18_ENST00000452588.2_Silent_p.P531P	p.P507P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1721	+			507					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1521G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	2.574	-0.298990	0.05532	0.0	1.16E-4	ENSG00000158545	ENST00000545404	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.49779	0.1577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69412	-0.5152	5	0.87932	D	0	-20.3562	3.7808	0.08680	0.3389:0.2888:0.2899:0.0825	.	.	.	.	H	331	.	ENSP00000442341:R331H	R	+	2	0	ZC3H18	87216151	0.000000	0.05858	0.119000	0.21687	0.358000	0.29455	-4.480000	0.00227	-4.082000	0.00075	-0.812000	0.03155	CGC		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		65	182	0	0	0	1	0	65	182				
SNRPN	6638	broad.mit.edu	37	15	25222994	25222994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25222994G>T	ENST00000400100.1	+	11	1380	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S|SNRPN_ENST00000444203.2_Missense_Mutation_p.A168S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	164					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TATTGCTGGAGCCCCAACACA	0.597									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(502-504)Gcc>Tcc		small nuclear ribonucleoprotein polypeptide N							36.0	38.0	37.0					15																	25222994		1963	4167	6130	SO:0001583	missense	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25222994G>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.490G>T	15.37:g.25222994G>T	ENSP00000382972:p.Ala164Ser					SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNRPN_ENST00000400100.1_Missense_Mutation_p.A164S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S	p.A168S			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	6	1541	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	164					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.502G>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989846	0.74589	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	3.94	3.94	0.45596	.	0.168726	0.51477	N	0.000081	T	0.58495	0.2126	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.62338	-0.6875	10	0.87932	D	0	-14.2258	14.2785	0.66196	0.0:0.0:1.0:0.0	.	168;164	B3KVR1;P63162	.;RSMN_HUMAN	S	164;164;164;168;164;168;23	ENSP00000382972:A164S;ENSP00000382970:A164S;ENSP00000382969:A164S;ENSP00000452342:A168S;ENSP00000375105:A164S;ENSP00000408767:A168S	ENSP00000306223:A23S	A	+	1	0	SNRPN;SNURF	22774087	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.292000	0.89930	2.482000	0.83794	0.585000	0.79938	GCC		0.597	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		39	150	1	0	6.2361e-21	1	7.00342e-21	39	150				
SFMBT2	57713	broad.mit.edu	37	10	7244459	7244459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7244459G>A	ENST00000361972.4	-	13	1560	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	SFMBT2_ENST00000397167.1_Silent_p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	490					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.V490V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTTGCACGACTGCAATCT	0.398																																						ENST00000361972.4																			1	Substitution - coding silent(1)	p.V490V(1)	large_intestine(1)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1468-1470)gtC>gtT		Scm-like with four mbt domains 2							168.0	142.0	151.0					10																	7244459		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7244459G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1470C>T	10.37:g.7244459G>A						SFMBT2_ENST00000397167.1_Silent_p.V490V	p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			13	1560	-			490					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1470C>T	CCDS31138.1																																																																																				0.398	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		66	312	0	0	0	1	0	66	312				
HSPA12A	259217	broad.mit.edu	37	10	118434865	118434865	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118434865G>A	ENST00000369209.3	-	12	1559	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	485						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGGCGCCTCGGCAAAGCCGC	0.637																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1453-1455)gcC>gcT		heat shock 70kDa protein 12A							14.0	16.0	16.0					10																	118434865		1916	4110	6026	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118434865G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1455C>T	10.37:g.118434865G>A							p.A485A	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1559	-			485						Silent	SNP	ENST00000369209.3	37	c.1455C>T	CCDS41569.1																																																																																				0.637	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		30	102	0	0	0	1	0	30	102				
DDX20	11218	broad.mit.edu	37	1	112309448	112309448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112309448G>A	ENST00000369702.4	+	11	3022	c.2402G>A	c.(2401-2403)aGa>aAa	p.R801K	DDX20_ENST00000475700.1_Missense_Mutation_p.R409K	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	801					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGCTCAGAGACATCCAAGT	0.403																																						ENST00000475700.1																			0				endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21						c.(1225-1227)aGa>aAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							79.0	80.0	80.0					1																	112309448		2203	4300	6503	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112309448G>A	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2402G>A	1.37:g.112309448G>A	ENSP00000358716:p.Arg801Lys					DDX20_ENST00000369702.4_Missense_Mutation_p.R801K	p.R409K			Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	3584	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	801			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1226G>A	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369712	0.82573	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.34275	1.37;1.83	5.82	5.82	0.92795	.	0.169212	0.64402	D	0.000014	T	0.19208	0.0461	L	0.52364	1.645	0.80722	D	1	P;B	0.42518	0.782;0.236	B;B	0.36378	0.223;0.091	T	0.02596	-1.1136	9	.	.	.	-19.141	12.9785	0.58549	0.0743:0.0:0.9257:0.0	.	409;801	E9PJ60;Q9UHI6	.;DDX20_HUMAN	K	801;409	ENSP00000358716:R801K;ENSP00000435660:R409K	.	R	+	2	0	DDX20	112110971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.045000	0.64220	2.760000	0.94817	0.655000	0.94253	AGA		0.403	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		57	303	0	0	0	1	0	57	303				
HTR3D	200909	broad.mit.edu	37	3	183756362	183756362	+	Missense_Mutation	SNP	C	C	T	rs142947621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183756362C>T	ENST00000382489.3	+	7	1085	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	362					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TGTCCCACTGCGCCCCAGAAG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16654	0.001		0.0	False		,,,				2504	0.0					ENST00000382489.3																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(1084-1086)gCg>gTg		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	41.0	43.0	43.0		935,1085,560	-2.3	0.0	3	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HTR3D	NM_001145143.1,NM_001163646.1,NM_182537.2	64,64,64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	312/405,362/455,187/280	183756362	2,13004	2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756362C>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1085C>T	3.37:g.183756362C>T	ENSP00000371929:p.Ala362Val					HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V	p.A362V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1085	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		362					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.1085C>T	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104866	0.20632	2.27E-4	1.16E-4	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	3.53	-2.29	0.06805	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.580121	0.14908	N	0.291438	T	0.55146	0.1902	N	0.20807	0.61	0.09310	N	1	B;B;B;B	0.33807	0.426;0.172;0.025;0.085	B;B;B;B	0.26416	0.069;0.024;0.009;0.031	T	0.46596	-0.9180	10	0.38643	T	0.18	-1.9671	1.0791	0.01639	0.1685:0.2824:0.3314:0.2176	.	362;187;141;187	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	V	187;312;362;141	ENSP00000334315:A187V;ENSP00000405409:A312V;ENSP00000371929:A362V;ENSP00000389268:A141V	ENSP00000334315:A187V	A	+	2	0	HTR3D	185239056	0.000000	0.05858	0.007000	0.13788	0.151000	0.21798	-1.644000	0.02002	-0.276000	0.09206	0.462000	0.41574	GCG		0.657	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		56	221	0	0	0	1	0	56	221				
IGF2R	3482	broad.mit.edu	37	6	160493851	160493851	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160493851A>G	ENST00000356956.1	+	33	4773	c.4625A>G	c.(4624-4626)tAc>tGc	p.Y1542C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1542					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACAGCTGCTTACAGCGAGAAG	0.547																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4624-4626)tAc>tGc		insulin-like growth factor 2 receptor							194.0	166.0	175.0					6																	160493851		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160493851A>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4625A>G	6.37:g.160493851A>G	ENSP00000349437:p.Tyr1542Cys						p.Y1542C	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	33	4773	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1542					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.4625A>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538926	0.45176	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.26	5.26	0.73747	Mannose-6-phosphate receptor, binding (1);	0.587979	0.18186	N	0.148968	T	0.06234	0.0161	M	0.75447	2.3	0.36227	D	0.852367	D	0.76494	0.999	D	0.74023	0.982	T	0.06716	-1.0811	10	0.52906	T	0.07	-7.7268	11.5057	0.50466	1.0:0.0:0.0:0.0	.	1542	P11717	MPRI_HUMAN	C	1542	ENSP00000349437:Y1542C	ENSP00000349437:Y1542C	Y	+	2	0	IGF2R	160413841	0.928000	0.31464	1.000000	0.80357	0.439000	0.31926	4.515000	0.60489	2.205000	0.71048	0.528000	0.53228	TAC		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	663	0	0	0	1	0	24	663				
SMARCA4	6597	broad.mit.edu	37	19	11170509	11170509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170509C>T	ENST00000429416.3	+	34	4997	c.4716C>T	c.(4714-4716)ggC>ggT	p.G1572G	SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000358026.2_Silent_p.G1604G|SMARCA4_ENST00000344626.4_Silent_p.G1572G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000589677.1_Silent_p.G1541G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1572	Poly-Glu.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				acagtgaaggcgaggagagtg	0.607			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4810-4812)ggC>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							51.0	45.0	47.0					19																	11170509		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11170509C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4716C>T	19.37:g.11170509C>T						SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000589677.1_Silent_p.G1541G|SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000429416.3_Silent_p.G1572G|SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000344626.4_Silent_p.G1572G	p.G1604G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			34	5096	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1572					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4812C>T	CCDS12253.1																																																																																				0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		37	133	0	0	0	1	0	37	133				
EIF3H	8667	broad.mit.edu	37	8	117668207	117668207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117668207C>T	ENST00000276682.4	-	7	1403	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E199K					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGCACTTCTTCAAACATGTAC	0.338																																						ENST00000521861.1																			0				large_intestine(2)|lung(10)|skin(1)	13						c.(595-597)Gaa>Aaa		eukaryotic translation initiation factor 3, subunit H							121.0	117.0	118.0					8																	117668207		2203	4300	6503	SO:0001583	missense	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117668207C>T	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.637G>A	8.37:g.117668207C>T	ENSP00000276682:p.Glu213Lys					EIF3H_ENST00000276682.4_Missense_Mutation_p.E213K	p.E199K	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN			5	618	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		199						Missense_Mutation	SNP	ENST00000276682.4	37	c.595G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.600966	0.96614	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995	T;T;T	0.50548	0.75;0.74;0.76	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.86097	2.795	0.80722	D	1	D;D	0.62365	0.991;0.983	P;P	0.53313	0.723;0.723	T	0.70226	-0.4930	10	0.54805	T	0.06	-24.4333	20.8598	0.99761	0.0:1.0:0.0:0.0	.	213;199	B3KS98;O15372	.;EIF3H_HUMAN	K	199;213;167;215	ENSP00000429931:E199K;ENSP00000276682:E213K;ENSP00000428669:E215K	ENSP00000276682:E213K	E	-	1	0	EIF3H	117737388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA		0.338	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		39	384	0	0	0	1	0	39	384				
MTHFD1L	25902	broad.mit.edu	37	6	151281474	151281474	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151281474G>A	ENST00000367321.3	+	18	2141	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	623	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGACAGCCTCGCAGACATGAA	0.592																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1867-1869)Gca>Aca		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							76.0	62.0	66.0					6																	151281474		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151281474G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1867G>A	6.37:g.151281474G>A	ENSP00000356290:p.Ala623Thr						p.A623T	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	18	2141	+		Ovarian(120;0.128)	623			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1867G>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642014	0.29157	.	.	ENSG00000120254	ENST00000367321	T	0.22945	1.93	5.81	-11.6	0.00059	.	2.222680	0.01321	N	0.010929	T	0.04952	0.0133	L	0.52266	1.64	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.005	B;B;B	0.13407	0.007;0.009;0.005	T	0.15694	-1.0428	10	0.23302	T	0.38	.	4.4068	0.11413	0.1404:0.1292:0.5514:0.179	.	624;378;623	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	T	623	ENSP00000356290:A623T	ENSP00000356290:A623T	A	+	1	0	MTHFD1L	151323167	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-2.764000	0.00784	-3.388000	0.00173	0.460000	0.39030	GCA		0.592	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		38	166	0	0	0	1	0	38	166				
CEACAM18	729767	broad.mit.edu	37	19	51983672	51983672	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983672C>T	ENST00000396477.4	+	2	159	c.138C>T	c.(136-138)gtC>gtT	p.V46V	CEACAM18_ENST00000451626.1_Silent_p.V107V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	46										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCGGACTGTCGTGGCCCTGG	0.552																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(136-138)gtC>gtT		carcinoembryonic antigen-related cell adhesion molecule 18							53.0	51.0	52.0					19																	51983672		1998	4153	6151	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51983672C>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.138C>T	19.37:g.51983672C>T						CEACAM18_ENST00000451626.1_Silent_p.V107V	p.V46V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	159	+		all_neural(266;0.0529)	107					C9JN24	Silent	SNP	ENST00000396477.4	37	c.138C>T																																																																																					0.552	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			18	87	0	0	0	1	0	18	87				
ZNHIT2	741	broad.mit.edu	37	11	64884293	64884293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64884293G>A	ENST00000310597.4	-	1	877	c.833C>T	c.(832-834)cCg>cTg	p.P278L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	278							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGGGCCCCGGCGGGTGCTC	0.706																																						ENST00000310597.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(832-834)cCg>cTg		zinc finger, HIT-type containing 2							12.0	15.0	14.0					11																	64884293		2179	4259	6438	SO:0001583	missense	741						metal ion binding	g.chr11:64884293G>A		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.833C>T	11.37:g.64884293G>A	ENSP00000308548:p.Pro278Leu						p.P278L	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN			1	877	-			278					Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	c.833C>T	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421075	0.42918	.	.	ENSG00000174276	ENST00000310597;ENST00000528598	T	0.30448	1.53	4.67	4.67	0.58626	.	0.331947	0.27437	U	0.019374	T	0.16342	0.0393	N	0.11560	0.145	0.25447	N	0.988045	P	0.47106	0.89	B	0.37601	0.254	T	0.10776	-1.0615	10	0.31617	T	0.26	-9.9964	15.0938	0.72217	0.0:0.0:1.0:0.0	.	278	Q9UHR6	ZNHI2_HUMAN	L	278;113	ENSP00000308548:P278L	ENSP00000308548:P278L	P	-	2	0	ZNHIT2	64640869	0.042000	0.20092	0.396000	0.26296	0.322000	0.28314	1.537000	0.36083	2.417000	0.82017	0.561000	0.74099	CCG		0.706	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		5	198	0	0	0	1	0	5	198				
LNPEP	4012	broad.mit.edu	37	5	96315306	96315306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96315306C>T	ENST00000231368.5	+	2	1176	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	162					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAATTGTTTCCATGGGCACA	0.463																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(484-486)Cca>Tca		leucyl/cystinyl aminopeptidase							89.0	87.0	88.0					5																	96315306		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96315306C>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.484C>T	5.37:g.96315306C>T	ENSP00000231368:p.Pro162Ser					LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	p.P162S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	1176	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	162					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.484C>T	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223506	0.58668	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04360	3.64;3.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.00477	-1.1716	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	162	Q9UIQ6	LCAP_HUMAN	S	162;148	ENSP00000231368:P162S;ENSP00000379117:P148S	ENSP00000231368:P162S	P	+	1	0	LNPEP	96341062	1.000000	0.71417	0.994000	0.49952	0.047000	0.14425	7.252000	0.78309	2.894000	0.99253	0.591000	0.81541	CCA		0.463	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		105	442	0	0	0	1	0	105	442				
RAB2A	5862	broad.mit.edu	37	8	61496780	61496780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61496780C>T	ENST00000262646.7	+	4	551	c.200C>T	c.(199-201)tCc>tTc	p.S67F	RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	67					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGGCAAGAATCCTTTCGTTCC	0.378																																						ENST00000262646.7																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(199-201)tCc>tTc		RAB2A, member RAS oncogene family							139.0	142.0	141.0					8																	61496780		2203	4300	6503	SO:0001583	missense	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61496780C>T		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.200C>T	8.37:g.61496780C>T	ENSP00000262646:p.Ser67Phe					RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F|RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F	p.S67F	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		4	551	+			67					B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	c.200C>T	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170618	0.94807	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	T;T;T	0.77620	-1.11;-1.11;-1.11	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.048123	0.85682	D	0.000000	D	0.88351	0.6413	M	0.76002	2.32	0.80722	D	1	D;D	0.57899	0.979;0.981	P;D	0.67548	0.9;0.952	D	0.88331	0.2968	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	43;67	B4DMQ5;P61019	.;RAB2A_HUMAN	F	67;43;67;21	ENSP00000262646:S67F;ENSP00000431846:S43F;ENSP00000431589:S67F	ENSP00000262646:S67F	S	+	2	0	RAB2A	61659334	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	TCC		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			97	504	0	0	0	1	0	97	504				
ADAMTS18	170692	broad.mit.edu	37	16	77398216	77398216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77398216G>A	ENST00000282849.5	-	5	1259	c.841C>T	c.(841-843)Cga>Tga	p.R281*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	281					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGGGTCGCCCAGAGCTC	0.478																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(841-843)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 18							81.0	77.0	78.0					16																	77398216		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77398216G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.841C>T	16.37:g.77398216G>A	ENSP00000282849:p.Arg281*						p.R281*	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			5	1259	-			281					Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.841C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	37	6.521404	0.97633	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.17	0.466	0.16716	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3354	0.74247	0.0:0.0:0.2693:0.7307	.	.	.	.	X	281	.	ENSP00000282849:R281X	R	-	1	2	ADAMTS18	75955717	0.004000	0.15560	0.823000	0.32752	0.966000	0.64601	0.095000	0.15127	0.251000	0.21505	-0.282000	0.10007	CGA		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			88	242	0	0	0	1	0	88	242				
PHLDB2	90102	broad.mit.edu	37	3	111603154	111603154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603154C>T	ENST00000431670.2	+	2	641	c.230C>T	c.(229-231)aCc>aTc	p.T77I	PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	77						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCTTTGGGAACCAGTGTCAGA	0.458																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(229-231)aCc>aTc		pleckstrin homology-like domain, family B, member 2							148.0	160.0	156.0					3																	111603154		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603154C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.230C>T	3.37:g.111603154C>T	ENSP00000405405:p.Thr77Ile					PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I	p.T77I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	641	+			77					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.230C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261057	0.23051	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.42;1.39;1.39;1.42;1.39	5.87	4.08	0.47627	.	0.919733	0.09484	N	0.795949	T	0.34366	0.0895	N	0.22421	0.69	0.09310	N	1	B;B;P;B;P	0.49090	0.09;0.053;0.919;0.145;0.493	B;B;P;B;B	0.48704	0.069;0.032;0.587;0.146;0.146	T	0.17228	-1.0376	10	0.72032	D	0.01	.	9.8179	0.40865	0.0:0.7857:0.1395:0.0748	.	77;77;77;77;104	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	104;104;77;77;77;77;77;77;77	ENSP00000377500:T104I;ENSP00000405405:T77I;ENSP00000405292:T77I;ENSP00000418296:T77I;ENSP00000377502:T77I;ENSP00000418319:T77I	ENSP00000352764:T104I	T	+	2	0	PHLDB2	113085844	0.030000	0.19436	0.378000	0.26068	0.462000	0.32619	1.447000	0.35101	0.932000	0.37266	0.655000	0.94253	ACC		0.458	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		174	884	0	0	0	1	0	174	884				
PCDHB6	56130	broad.mit.edu	37	5	140531016	140531016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531016C>A	ENST00000231136.1	+	1	1178	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACTAAGACCTTCCGTGGAG	0.468																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1177-1179)cCt>cAt									121.0	123.0	122.0					5																	140531016		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531016C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1178C>A	5.37:g.140531016C>A	ENSP00000231136:p.Pro393His					PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	p.P393H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1178	+			393			Cadherin 4.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1178C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	8.842	0.942553	0.18281	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01725	4.67;4.67	4.59	2.65	0.31530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12774	0.0310	H	0.95004	3.61	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05666	-1.0871	9	0.87932	D	0	.	6.5296	0.22320	0.1459:0.6952:0.0:0.159	.	393	Q9Y5E3	PCDB6_HUMAN	H	257;393;178	ENSP00000438466:P257H;ENSP00000231136:P393H	ENSP00000231136:P393H	P	+	2	0	PCDHB6	140511200	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.152000	0.16302	1.053000	0.40415	-0.219000	0.12488	CCT		0.468	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		151	670	1	0	1.73214e-63	1	2.18662e-63	151	670				
BZRAP1	9256	broad.mit.edu	37	17	56389337	56389337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389337G>T	ENST00000343736.4	-	17	3008	c.2845C>A	c.(2845-2847)Ctc>Atc	p.L949I	BZRAP1_ENST00000268893.6_Missense_Mutation_p.L889I|BZRAP1_ENST00000355701.3_Missense_Mutation_p.L949I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	949	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGGTGGGAGCTGAGCCTCC	0.657																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2845-2847)Ctc>Atc		benzodiazapine receptor (peripheral) associated protein 1							37.0	39.0	38.0					17																	56389337		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389337G>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2845C>A	17.37:g.56389337G>T	ENSP00000345824:p.Leu949Ile					BZRAP1_ENST00000268893.6_Missense_Mutation_p.L889I|BZRAP1_ENST00000343736.4_Missense_Mutation_p.L949I	p.L949I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			17	3715	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		949			Fibronectin type-III 2.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.2845C>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165512	0.38217	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04706	3.57;3.6;3.6	4.95	3.95	0.45737	Fibronectin, type III (2);	0.398397	0.21514	N	0.073340	T	0.04815	0.0130	L	0.33485	1.01	0.24983	N	0.991587	B;B;B	0.14805	0.001;0.011;0.003	B;B;B	0.17433	0.003;0.018;0.009	T	0.37337	-0.9710	10	0.16896	T	0.51	.	13.5894	0.61951	0.0:0.0:0.8384:0.1616	.	949;889;949	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	949;949;889	ENSP00000347929:L949I;ENSP00000345824:L949I;ENSP00000268893:L889I	ENSP00000268893:L889I	L	-	1	0	BZRAP1	53744336	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.478000	0.66806	1.167000	0.42706	0.455000	0.32223	CTC		0.657	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		12	307	1	0	4.3838e-07	1	4.54049e-07	12	307				
SV2C	22987	broad.mit.edu	37	5	75428010	75428010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428010C>T	ENST00000502798.2	+	2	877	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SV2C_ENST00000322285.7_Silent_p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	145					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(433-435)tgC>tgT		synaptic vesicle glycoprotein 2C							199.0	198.0	198.0					5																	75428010		2039	4185	6224	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428010C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.435C>T	5.37:g.75428010C>T						SV2C_ENST00000322285.7_Silent_p.C145C	p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	877	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	145					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.435C>T	CCDS43331.1																																																																																				0.537	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			48	467	0	0	0	1	0	48	467				
OR4C12	283093	broad.mit.edu	37	11	50003628	50003628	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:50003628C>A	ENST00000335238.4	-	1	443	c.410G>T	c.(409-411)aGc>aTc	p.S137I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AATGCACAGGCTGTGGCTCAT	0.498																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(409-411)aGc>aTc		olfactory receptor, family 4, subfamily C, member 12							159.0	163.0	162.0					11																	50003628		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003628C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.410G>T	11.37:g.50003628C>A	ENSP00000334418:p.Ser137Ile						p.S137I	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	443	-			137					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.410G>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	1.770	-0.484549	0.04352	.	.	ENSG00000221954	ENST00000335238	T	0.38077	1.16	3.31	-0.249	0.13011	GPCR, rhodopsin-like superfamily (1);	0.620671	0.13071	U	0.416101	T	0.25082	0.0609	L	0.32530	0.975	0.09310	N	1	B	0.21309	0.054	B	0.25759	0.063	T	0.27571	-1.0070	10	0.66056	D	0.02	.	6.2106	0.20628	0.0:0.3643:0.0:0.6357	.	137	Q96R67	OR4CC_HUMAN	I	137	ENSP00000334418:S137I	ENSP00000334418:S137I	S	-	2	0	OR4C12	49960204	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-1.739000	0.01840	0.109000	0.17891	-0.555000	0.04198	AGC		0.498	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		28	1157	1	0	3.01185e-09	1	3.16585e-09	28	1157				
SLC52A2	79581	broad.mit.edu	37	8	145583404	145583404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145583404G>A	ENST00000532887.1	+	3	835	c.252G>A	c.(250-252)gtG>gtA	p.V84V	SLC52A2_ENST00000329994.2_Silent_p.V84V|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.V84V|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Silent_p.V84V|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000527078.1_Silent_p.V84V|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_5'UTR			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	84					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TCCGGGTGGTGCAGGTGCTGG	0.642																																						ENST00000532887.1																			0											c.(250-252)gtG>gtA		solute carrier family 52 (riboflavin transporter), member 2							104.0	102.0	103.0					8																	145583404		2203	4300	6503	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583404G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.252G>A	8.37:g.145583404G>A						SLC52A2_ENST00000402965.1_Silent_p.V84V|SLC52A2_ENST00000329994.2_Silent_p.V84V|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000527078.1_Silent_p.V84V|SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.V84V	p.V84V			Q9HAB3	RFT3_HUMAN			3	835	+			84					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.252G>A	CCDS6423.1																																																																																				0.642	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		98	488	0	0	0	1	0	98	488				
CATSPER1	117144	broad.mit.edu	37	11	65793057	65793057	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793057C>T	ENST00000312106.5	-	1	931	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	265	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						gtggtactcgctgtgatagtC	0.577																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(793-795)aGc>aAc		cation channel, sperm associated 1							156.0	133.0	141.0					11																	65793057		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793057C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.794G>A	11.37:g.65793057C>T	ENSP00000309052:p.Ser265Asn						p.S265N	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	931	-			265			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.794G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	8.745	0.919916	0.17982	.	.	ENSG00000175294	ENST00000312106	D	0.96716	-4.1	3.21	-3.69	0.04450	.	.	.	.	.	D	0.90738	0.7093	L	0.47716	1.5	0.09310	N	1	B	0.29432	0.244	B	0.17098	0.017	T	0.80834	-0.1205	9	0.59425	D	0.04	.	1.6208	0.02713	0.134:0.3752:0.1319:0.3588	.	265	Q8NEC5	CTSR1_HUMAN	N	265	ENSP00000309052:S265N	ENSP00000309052:S265N	S	-	2	0	CATSPER1	65549633	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.870000	0.01641	-0.918000	0.03808	0.460000	0.39030	AGC		0.577	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		14	74	0	0	0	1	0	14	74				
ZNF668	79759	broad.mit.edu	37	16	31072558	31072558	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072558C>T	ENST00000538906.1	-	3	2475	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGTGAGTGCGGCTGTGTTT	0.667																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1690-1692)cGc>cAc		zinc finger protein 668							58.0	55.0	56.0					16																	31072558		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072558C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1691G>A	16.37:g.31072558C>T	ENSP00000440149:p.Arg564His					ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H	p.R564H	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2475	-			564					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1691G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860853	0.71834	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131819	0.47455	D	0.000224	T	0.52158	0.1717	M	0.78049	2.395	0.42855	D	0.994091	D	0.89917	1.0	D	0.68353	0.957	T	0.58736	-0.7584	10	0.87932	D	0	-39.4971	16.7615	0.85513	0.0:1.0:0.0:0.0	.	564	Q96K58	ZN668_HUMAN	H	587;564;564;564;564	ENSP00000442573:R587H;ENSP00000441349:R564H;ENSP00000440149:R564H;ENSP00000378434:R564H;ENSP00000300849:R564H	ENSP00000300849:R564H	R	-	2	0	ZNF668	30980059	0.447000	0.25673	1.000000	0.80357	0.932000	0.56968	0.773000	0.26661	2.500000	0.84329	0.561000	0.74099	CGC		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		27	540	0	0	0	1	0	27	540				
NAIF1	203245	broad.mit.edu	37	9	130829260	130829260	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829260G>T	ENST00000373078.4	-	1	340	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	41	Required for nuclear localization and apoptosis-inducing activity.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGGCGGCCAGGGGTACCCCG	0.607																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(121-123)Ctg>Atg		nuclear apoptosis inducing factor 1							76.0	80.0	78.0					9																	130829260		2202	4300	6502	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829260G>T	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.121C>A	9.37:g.130829260G>T	ENSP00000362170:p.Leu41Met						p.L41M	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			1	340	-			41			Required for nuclear localization and apoptosis-inducing activity.		B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.121C>A	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292874	0.60086	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	4.32	0.51571	.	0.070506	0.64402	D	0.000020	T	0.52386	0.1731	N	0.22421	0.69	0.42160	D	0.991592	D	0.65815	0.995	D	0.63192	0.912	T	0.50915	-0.8771	9	0.37606	T	0.19	-6.7284	9.237	0.37473	0.1641:0.0:0.8359:0.0	.	41	Q69YI7	NAIF1_HUMAN	M	41	.	ENSP00000362170:L41M	L	-	1	2	NAIF1	129869081	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	5.213000	0.65230	1.207000	0.43291	-0.253000	0.11424	CTG		0.607	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		41	822	1	0	5.43694e-19	1	6.05247e-19	41	822				
SSPO	23145	broad.mit.edu	37	7	149490411	149490411	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149490411C>T	ENST00000378016.2	+	0	5887							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGACGGAGCCCTGTGAGGG	0.647																																						ENST00000378016.2																			0													SCO-spondin							24.0	28.0	27.0					7																	149490411		1979	4162	6141			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149490411C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149490411C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5887	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				17	96	0	0	0	1	0	17	96				
IGKV4-1	28908	broad.mit.edu	37	2	89185459	89185459	+	RNA	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:89185459C>G	ENST00000390243.2	+	0	328							P06312	KV401_HUMAN	immunoglobulin kappa variable 4-1						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GTGTTTTATACAGCTCCAACA	0.547																																						ENST00000390243.2																			0																																																			0							g.chr2:89185459C>G	Z00023		2p11.2	2012-02-08			ENSG00000211598	ENSG00000211598		"""Immunoglobulins / IGK locus"""	5834	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV41, B3		P06312	OTTHUMG00000151533		2.37:g.89185459C>G														0	328	+									RNA	SNP	ENST00000390243.2	37																																																																																						0.547	IGKV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323037.2	NG_000834		83	227	0	0	0	1	0	83	227				
AKAP10	11216	broad.mit.edu	37	17	19835269	19835269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19835269G>A	ENST00000225737.6	-	10	1647	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	AKAP10_ENST00000395536.3_Intron|RP11-209D14.4_ENST00000583067.1_RNA	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	497	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					AAGATTGCTGGACAAAAAGCC	0.353																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1489-1491)tCc>tTc		A kinase (PRKA) anchor protein 10							32.0	37.0	35.0					17																	19835269		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19835269G>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1490C>T	17.37:g.19835269G>A	ENSP00000225737:p.Ser497Phe					AKAP10_ENST00000395536.3_Intron	p.S497F	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			10	1647	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		497			RGS 2.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.1490C>T	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884801	0.91814	.	.	ENSG00000108599	ENST00000225737	T	0.22945	1.93	5.78	5.78	0.91487	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.40543	1.245	0.58432	D	0.999998	D	0.76494	0.999	D	0.72982	0.979	T	0.26744	-1.0094	10	0.72032	D	0.01	-7.8725	19.0829	0.93190	0.0:0.0:1.0:0.0	.	497	O43572	AKA10_HUMAN	F	497	ENSP00000225737:S497F	ENSP00000225737:S497F	S	-	2	0	AKAP10	19775861	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.102000	0.94226	2.761000	0.94854	0.644000	0.83932	TCC		0.353	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		10	246	0	0	0	1	0	10	246				
HOXB5	3215	broad.mit.edu	37	17	46670671	46670671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46670671C>T	ENST00000239151.5	-	1	652	c.374G>A	c.(373-375)aGc>aAc	p.S125N	HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	125					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GGCGCTGGAGCTGGCTGAGGT	0.682																																						ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(373-375)aGc>aAc		homeobox B5							29.0	32.0	31.0					17																	46670671		2203	4300	6503	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670671C>T		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.374G>A	17.37:g.46670671C>T	ENSP00000239151:p.Ser125Asn					HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA	p.S125N	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	652	-			125					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.374G>A	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751490	0.15778	.	.	ENSG00000120075	ENST00000239151	D	0.92595	-3.07	5.31	4.34	0.51931	.	0.317667	0.37393	N	0.002101	D	0.90024	0.6885	M	0.65498	2.005	0.32462	N	0.544047	B	0.09022	0.002	B	0.09377	0.004	D	0.88061	0.2794	10	0.30078	T	0.28	.	13.4791	0.61326	0.0:0.9232:0.0:0.0768	.	125	P09067	HXB5_HUMAN	N	125	ENSP00000239151:S125N	ENSP00000239151:S125N	S	-	2	0	HOXB5	44025670	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	2.164000	0.42387	1.224000	0.43551	0.455000	0.32223	AGC		0.682	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			67	261	0	0	0	1	0	67	261				
HHIPL2	79802	broad.mit.edu	37	1	222713615	222713615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222713615C>T	ENST00000343410.6	-	4	1245	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	396					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGAGGGGACTCGGTACCGCTT	0.542																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1186-1188)cGa>cAa		HHIP-like 2							73.0	69.0	71.0					1																	222713615		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713615C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1187G>A	1.37:g.222713615C>T	ENSP00000342118:p.Arg396Gln						p.R396Q	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1245	-			396					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1187G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751619	0.31046	.	.	ENSG00000143512	ENST00000343410	T	0.11495	2.77	4.95	4.04	0.47022	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.211701	0.40554	N	0.001068	T	0.11024	0.0269	L	0.58669	1.825	0.34984	D	0.754342	P	0.35959	0.53	B	0.31101	0.124	T	0.21143	-1.0254	10	0.23302	T	0.38	-5.2665	12.7244	0.57162	0.0:0.9191:0.0:0.0809	.	396	Q6UWX4	HIPL2_HUMAN	Q	396	ENSP00000342118:R396Q	ENSP00000342118:R396Q	R	-	2	0	HHIPL2	220780238	0.763000	0.28462	0.933000	0.37362	0.650000	0.38633	1.408000	0.34668	1.058000	0.40530	0.313000	0.20887	CGA		0.542	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		128	363	0	0	0	1	0	128	363				
TNFRSF1A	7132	broad.mit.edu	37	12	6442635	6442635	+	Missense_Mutation	SNP	C	C	T	rs104895278	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6442635C>T	ENST00000162749.2	-	4	669	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M|TNFRSF1A_ENST00000437813.3_5'UTR	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	124					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAGCCACACACGGTGTCCCGG	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		21035	0.0		0.0	False		,,,				2504	0.002					ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19	GRCh37	CM065492	TNFRSF1A	M	rs104895278	c.(370-372)Gtg>Atg		tumor necrosis factor receptor superfamily, member 1A							94.0	90.0	91.0					12																	6442635		2203	4300	6503	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6442635C>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.370G>A	12.37:g.6442635C>T	ENSP00000162749:p.Val124Met					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M|TNFRSF1A_ENST00000437813.3_5'UTR	p.V124M	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			4	669	-			124					A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.370G>A	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686207	0.68157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.06	4.14	0.48551	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.203911	0.42053	D	0.000770	D	0.95999	0.8697	M	0.79475	2.455	0.41995	D	0.990861	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70487	0.969;0.917;0.961	D	0.95675	0.8727	10	0.51188	T	0.08	-12.9729	13.0176	0.58766	0.0:0.8363:0.1637:0.0	.	124;81;124	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	M	124;81;124;124;124;115	ENSP00000162749:V124M;ENSP00000438343:V81M;ENSP00000442059:V124M;ENSP00000380389:V124M;ENSP00000413224:V124M;ENSP00000442919:V115M	ENSP00000162749:V124M	V	-	1	0	TNFRSF1A	6312896	0.401000	0.25303	0.637000	0.29366	0.931000	0.56810	3.042000	0.49815	1.077000	0.40990	0.561000	0.74099	GTG		0.547	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		32	155	0	0	0	1	0	32	155				
CDK12	51755	broad.mit.edu	37	17	37618956	37618956	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37618956A>C	ENST00000447079.4	+	1	665	c.632A>C	c.(631-633)aAa>aCa	p.K211T	CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	211					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACAAAACAGTGGAC	0.507			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(631-633)aAa>aCa		cyclin-dependent kinase 12																																				SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618956A>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.632A>C	17.37:g.37618956A>C	ENSP00000398880:p.Lys211Thr	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	665	+			211					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.632A>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113683	0.56398	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42513	0.97;0.97	5.07	5.07	0.68467	.	0.000000	0.46442	D	0.000288	T	0.56992	0.2023	L	0.44542	1.39	0.39766	D	0.97209	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.83275	0.994;0.968;0.996	T	0.62282	-0.6887	10	0.72032	D	0.01	-10.8059	14.8276	0.70125	1.0:0.0:0.0:0.0	.	211;211;211	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	211	ENSP00000407720:K211T;ENSP00000398880:K211T	ENSP00000407720:K211T	K	+	2	0	CDK12	34872482	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	7.154000	0.77437	1.907000	0.55213	0.379000	0.24179	AAA		0.507	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		118	407	0	0	0	1	0	118	407				
NDRG4	65009	broad.mit.edu	37	16	58537860	58537860	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58537860C>T	ENST00000570248.1	+	2	233				NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000569923.1_Intron|NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000356752.4_Intron|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000394279.2_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000563799.1_Splice_Site_p.S60S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4						cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCAGCCAGAGCGGTGAGGCCC	0.667																																						ENST00000563799.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.e2+1		NDRG family member 4																																				SO:0001627	intron_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58537860C>T	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.127+53C>T	16.37:g.58537860C>T						NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000570248.1_Intron|NDRG4_ENST00000569923.1_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000394279.2_Intron|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000356752.4_Intron	p.S60_splice			Q9ULP0	NDRG4_HUMAN			2	286	+			44					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Splice_Site	SNP	ENST00000570248.1	37	c.181_splice	CCDS58466.1																																																																																				0.667	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			33	154	0	0	0	1	0	33	154				
CCER1	196477	broad.mit.edu	37	12	91347577	91347577	+	Missense_Mutation	SNP	C	C	T	rs374196591|rs558083520	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91347577C>T	ENST00000358859.2	-	1	1376	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	315	Glu-rich.																tcctcatcttcgacctcttcc	0.532																																						ENST00000358859.2																			0											c.(943-945)Gaa>Aaa		coiled-coil glutamate-rich protein 1							220.0	187.0	198.0					12																	91347577		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347577C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.943G>A	12.37:g.91347577C>T	ENSP00000351727:p.Glu315Lys					CCER1_ENST00000548187.1_Intron	p.E315K	NM_152638.2	NP_689851.1					1	1376	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.943G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	c	4.874	0.162433	0.09287	.	.	ENSG00000197651	ENST00000358859	T	0.22336	1.96	3.23	3.23	0.37069	.	0.476592	0.15554	U	0.256242	T	0.14743	0.0356	N	0.24115	0.695	0.09310	N	1	P	0.50272	0.933	B	0.43360	0.417	T	0.08432	-1.0722	10	0.30854	T	0.27	.	9.8396	0.40991	0.0:1.0:0.0:0.0	.	315	Q8TC90	CL012_HUMAN	K	315	ENSP00000351727:E315K	ENSP00000351727:E315K	E	-	1	0	C12orf12	89871708	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-0.081000	0.11321	1.618000	0.50286	0.187000	0.17357	GAA		0.532	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		38	397	0	0	0	1	0	38	397				
TULP4	56995	broad.mit.edu	37	6	158900854	158900854	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158900854C>T	ENST00000367097.3	+	7	2455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	TULP4_ENST00000367094.2_Silent_p.Y366Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	366	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGTACGTGGTGCGTG	0.617																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1096-1098)taC>taT		tubby like protein 4							92.0	78.0	83.0					6																	158900854		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900854C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1098C>T	6.37:g.158900854C>T						TULP4_ENST00000367094.2_Silent_p.Y366Y	p.Y366Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	7	2455	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	366			SOCS box.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.1098C>T	CCDS34561.1																																																																																				0.617	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		67	324	0	0	0	1	0	67	324				
COPB2	9276	broad.mit.edu	37	3	139097937	139097937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139097937G>A	ENST00000333188.5	-	4	488	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	COPB2_ENST00000507777.1_Missense_Mutation_p.R74C|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	103					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.R103C(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAATACAGCGAATGTAGTCT	0.383																																						ENST00000333188.5																			1	Substitution - Missense(1)	p.R103C(1)	large_intestine(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(307-309)Cgc>Tgc		coatomer protein complex, subunit beta 2 (beta prime)							124.0	116.0	119.0					3																	139097937		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139097937G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.307C>T	3.37:g.139097937G>A	ENSP00000329419:p.Arg103Cys					COPB2_ENST00000507777.1_Missense_Mutation_p.R74C|COPB2_ENST00000510491.1_5'UTR	p.R103C	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			4	488	-			103					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.307C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085074	0.94100	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000515006;ENST00000512153;ENST00000513274;ENST00000512242;ENST00000514508	T;T;D;T;T;T;D	0.81821	0.06;0.06;-1.54;0.06;0.06;0.06;-1.54	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91052	0.4879	10	0.87932	D	0	-21.7541	20.0639	0.97700	0.0:0.0:1.0:0.0	.	103;103	B4E2C9;P35606	.;COPB2_HUMAN	C	103;74;103;74;74;74;74	ENSP00000329419:R103C;ENSP00000422295:R74C;ENSP00000423271:R103C;ENSP00000422547:R74C;ENSP00000424144:R74C;ENSP00000427185:R74C;ENSP00000422469:R74C	ENSP00000329419:R103C	R	-	1	0	COPB2	140580627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.817000	0.96982	0.557000	0.71058	CGC		0.383	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		47	241	0	0	0	1	0	47	241				
ACTN1	87	broad.mit.edu	37	14	69358972	69358972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69358972G>A	ENST00000193403.6	-	10	1267	c.884C>T	c.(883-885)cCg>cTg	p.P295L	ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L|ACTN1_ENST00000554508.1_5'Flank|ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	295	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCCAGCCACGGGATTGTGCG	0.657																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(883-885)cCg>cTg		actinin, alpha 1							61.0	59.0	60.0					14																	69358972		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69358972G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.884C>T	14.37:g.69358972G>A	ENSP00000193403:p.Pro295Leu					ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L	p.P295L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	10	1267	-			295			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.884C>T	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224766	0.95173	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616	T;T;T;T;T;T	0.66995	0.75;0.75;0.75;0.75;0.75;-0.24	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.983;0.995;1.0;0.999	P;P;D;D	0.71656	0.761;0.841;0.974;0.955	T	0.82190	-0.0580	10	0.72032	D	0.01	.	17.6725	0.88222	0.0:0.0:1.0:0.0	.	295;295;295;295	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	L	295;295;295;230;295;230	ENSP00000193403:P295L;ENSP00000377941:P295L;ENSP00000414272:P295L;ENSP00000366035:P230L;ENSP00000439828:P295L;ENSP00000450903:P230L	ENSP00000193403:P295L	P	-	2	0	ACTN1	68428725	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	9.641000	0.98458	2.383000	0.81215	0.643000	0.83706	CCG		0.657	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		79	381	0	0	0	1	0	79	381				
LAMB2	3913	broad.mit.edu	37	3	49162549	49162549	+	Missense_Mutation	SNP	C	C	T	rs536235346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49162549C>T	ENST00000418109.1	-	21	2938	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	925	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACAGGGCCGGCACTGGCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18742	0.001		0.0	False		,,,				2504	0.0					ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2773-2775)cGg>cAg		laminin, beta 2 (laminin S)							37.0	37.0	37.0					3																	49162549		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49162549C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2774G>A	3.37:g.49162549C>T	ENSP00000388325:p.Arg925Gln					LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q|LAMB2_ENST00000464891.1_5'UTR	p.R925Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	2938	-			925			Laminin EGF-like 8.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.2774G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147415	0.94603	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.62788	0.0;0.0	5.98	5.98	0.97165	EGF-like, laminin (2);	0.058682	0.64402	D	0.000002	T	0.70570	0.3239	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.64506	0.926	T	0.65236	-0.6217	10	0.31617	T	0.26	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	925	P55268	LAMB2_HUMAN	Q	925	ENSP00000388325:R925Q;ENSP00000307156:R925Q	ENSP00000307156:R925Q	R	-	2	0	LAMB2	49137553	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.031000	0.57267	2.847000	0.97988	0.591000	0.81541	CGG		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		67	272	0	0	0	1	0	67	272				
FLT4	2324	broad.mit.edu	37	5	180057602	180057602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180057602G>A	ENST00000261937.6	-	3	431	c.353C>T	c.(352-354)gCa>gTa	p.A118V	FLT4_ENST00000393347.3_Missense_Mutation_p.A118V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	118	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCGATGCGTGCCTTGATGTA	0.642																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(352-354)gCa>gTa		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						185.0	142.0	157.0					5																	180057602		2203	4299	6502	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057602G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.353C>T	5.37:g.180057602G>A	ENSP00000261937:p.Ala118Val					FLT4_ENST00000393347.3_Missense_Mutation_p.A118V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V	p.A118V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	3	431	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	118			Ig-like C2-type 1.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.353C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591855	0.46214	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77098	-1.07;-1.07;-1.07	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76695	0.4023	L	0.42245	1.32	0.46631	D	0.999134	P;P;P;B;B	0.51537	0.946;0.934;0.492;0.005;0.002	P;P;B;B;B	0.51701	0.636;0.677;0.184;0.021;0.014	T	0.74481	-0.3651	9	0.33141	T	0.24	.	11.9624	0.53015	0.0801:0.0:0.9199:0.0	.	118;118;118;118;118	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	V	118	ENSP00000261937:A118V;ENSP00000377016:A118V;ENSP00000426057:A118V	ENSP00000261937:A118V	A	-	2	0	FLT4	179990208	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.973000	0.56845	2.465000	0.83290	0.456000	0.33151	GCA		0.642	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			97	237	0	0	0	1	0	97	237				
CUBN	8029	broad.mit.edu	37	10	16877056	16877056	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877056A>C	ENST00000377833.4	-	64	10384	c.10319T>G	c.(10318-10320)cTt>cGt	p.L3440R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3440	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCGATGCCAAGTGAATGAAA	0.418																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10318-10320)cTt>cGt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						136.0	117.0	123.0					10																	16877056		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877056A>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10319T>G	10.37:g.16877056A>C	ENSP00000367064:p.Leu3440Arg						p.L3440R	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10384	-			3440			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10319T>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305128	0.40795	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.24538	1.85	4.84	4.84	0.62591	CUB (5);	0.000000	0.44097	D	0.000491	T	0.36580	0.0972	M	0.80422	2.495	0.80722	D	1	B	0.25169	0.119	B	0.30855	0.121	T	0.36187	-0.9758	10	0.72032	D	0.01	.	14.5848	0.68317	1.0:0.0:0.0:0.0	.	3440	O60494	CUBN_HUMAN	R	3440;281	ENSP00000367064:L3440R	ENSP00000367064:L3440R	L	-	2	0	CUBN	16917062	1.000000	0.71417	0.140000	0.22221	0.373000	0.29922	8.687000	0.91255	2.028000	0.59812	0.459000	0.35465	CTT		0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		61	299	0	0	0	1	0	61	299				
INMT	11185	broad.mit.edu	37	7	30793510	30793510	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30793510C>A	ENST00000013222.5	+	2	334	c.318C>A	c.(316-318)gaC>gaA	p.D106E	INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.D105E|INMT_ENST00000409539.1_Missense_Mutation_p.D105E|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	106					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGCCTATGACTGGACCCCAG	0.572																																						ENST00000458257.1																			0											c.(313-315)gaC>gaA									78.0	86.0	83.0					7																	30793510		2203	4300	6503	SO:0001583	missense	0							g.chr7:30793510C>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.318C>A	7.37:g.30793510C>A	ENSP00000013222:p.Asp106Glu					INMT_ENST00000409539.1_Missense_Mutation_p.D105E|INMT_ENST00000013222.5_Missense_Mutation_p.D106E|INMT_ENST00000484180.1_3'UTR	p.D105E							2	329	+								B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	c.315C>A	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285357	0.59867	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.05649	3.41;3.41	3.69	3.69	0.42338	.	0.000000	0.64402	D	0.000011	T	0.18635	0.0447	M	0.73372	2.23	0.41786	D	0.989844	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.00433	-1.1742	10	0.44086	T	0.13	-26.0641	7.2097	0.25927	0.0:0.8781:0.0:0.1219	.	105;106	B8ZZ69;O95050	.;INMT_HUMAN	E	106;105	ENSP00000013222:D106E;ENSP00000386961:D105E	ENSP00000013222:D106E	D	+	3	2	INMT	30760035	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	2.516000	0.45520	2.043000	0.60533	0.561000	0.74099	GAC		0.572	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		130	650	1	0	6.21504e-60	1	7.81052e-60	130	650				
CCDC82	79780	broad.mit.edu	37	11	96098310	96098310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96098310C>T	ENST00000278520.5	-	7	1642	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CCDC82_ENST00000423339.2_Missense_Mutation_p.R405Q|CCDC82_ENST00000542662.1_Missense_Mutation_p.R405Q			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	405										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATTTTCTACTCGCTCCTGaaa	0.289																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1213-1215)cGa>cAa		coiled-coil domain containing 82							32.0	31.0	32.0					11																	96098310		2200	4297	6497	SO:0001583	missense	79780						protein binding	g.chr11:96098310C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1214G>A	11.37:g.96098310C>T	ENSP00000278520:p.Arg405Gln					CCDC82_ENST00000423339.2_Missense_Mutation_p.R405Q|CCDC82_ENST00000542662.1_Missense_Mutation_p.R405Q	p.R405Q			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	7	1642	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	405					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1214G>A	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829599	0.71258	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.44083	0.93;0.93;0.93	5.72	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.61274	0.2334	M	0.66939	2.045	0.47476	D	0.999434	D	0.89917	1.0	D	0.80764	0.994	T	0.62661	-0.6807	10	0.48119	T	0.1	-3.3533	13.5099	0.61506	0.0:0.9237:0.0:0.0763	.	405	Q8N4S0	CCD82_HUMAN	Q	405	ENSP00000278520:R405Q;ENSP00000444010:R405Q;ENSP00000397156:R405Q	ENSP00000278520:R405Q	R	-	2	0	CCDC82	95737958	1.000000	0.71417	0.991000	0.47740	0.530000	0.34684	4.941000	0.63540	1.424000	0.47217	0.591000	0.81541	CGA		0.289	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		5	155	0	0	0	1	0	5	155				
ZNF626	199777	broad.mit.edu	37	19	20807526	20807526	+	Missense_Mutation	SNP	G	G	A	rs199778234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20807526G>A	ENST00000601440.1	-	4	1303	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATCTTATGCGTAGTAAGGTC	0.383													g|||	1	0.000199681	0.0008	0.0	5008	,	,		21858	0.0		0.0	False		,,,				2504	0.0					ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1156-1158)aCg>aTg		zinc finger protein 626		G	MET/THR	1,4285		0,1,2142	60.0	63.0	62.0		1157	-1.5	0.0	19		62	4,8558		0,4,4277	no	missense	ZNF626	NM_001076675.2	81	0,5,6419	AA,AG,GG		0.0467,0.0233,0.0389	possibly-damaging	386/529	20807526	5,12843	2143	4281	6424	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807526G>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1157C>T	19.37:g.20807526G>A	ENSP00000469958:p.Thr386Met					CTC-513N18.7_ENST00000595094.1_lincRNA	p.T386M	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1303	-			386					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1157C>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	8.123	0.781388	0.16120	2.33E-4	4.67E-4	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	N	0.21240	0.645	0.09310	N	1	D	0.63880	0.993	P	0.52793	0.709	T	0.14924	-1.0455	8	0.52906	T	0.07	.	2.2019	0.03926	0.3045:0.3393:0.3562:0.0	.	386	Q68DY1	ZN626_HUMAN	M	386;310;386	.	ENSP00000445201:T386M	T	-	2	0	ZNF626	20599366	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-7.731000	0.00031	0.284000	0.22305	0.289000	0.19496	ACG		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		72	334	0	0	0	1	0	72	334				
OR4C46	119749	broad.mit.edu	37	11	51515910	51515910	+	Missense_Mutation	SNP	C	C	A	rs368077487		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51515910C>A	ENST00000328188.1	+	1	629	c.629C>A	c.(628-630)gCc>gAc	p.A210D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTAAACTTTGCCCTCCTGCTG	0.517																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(628-630)gCc>gAc		olfactory receptor, family 4, subfamily C, member 46							123.0	106.0	112.0					11																	51515910		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515910C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.629C>A	11.37:g.51515910C>A	ENSP00000329056:p.Ala210Asp						p.A210D	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	629	+			210						Missense_Mutation	SNP	ENST00000328188.1	37	c.629C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	1.840	-0.467648	0.04476	.	.	ENSG00000185926	ENST00000328188	T	0.39229	1.09	2.47	0.105	0.14535	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000941	T	0.41811	0.1175	M	0.75777	2.31	0.09310	N	1	B	0.19445	0.036	B	0.32022	0.139	T	0.46527	-0.9185	10	0.72032	D	0.01	.	6.6039	0.22714	0.0:0.4123:0.0:0.5877	.	210	A6NHA9	O4C46_HUMAN	D	210	ENSP00000329056:A210D	ENSP00000329056:A210D	A	+	2	0	OR4C46	51372486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.275000	0.18698	-0.122000	0.11766	-1.950000	0.00486	GCC		0.517	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		74	329	1	0	7.33394e-39	1	8.85091e-39	74	329				
TRPS1	7227	broad.mit.edu	37	8	116617112	116617112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116617112C>T	ENST00000220888.5	-	3	1204	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000395715.3_Missense_Mutation_p.E362K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	349					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E349K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTTCTAATTCGGTGGATGAG	0.408									Langer-Giedion syndrome																													ENST00000395715.3																			1	Substitution - Missense(1)	p.E349K(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1084-1086)Gaa>Aaa		trichorhinophalangeal syndrome I							111.0	107.0	108.0					8																	116617112		1870	4095	5965	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116617112C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1045G>A	8.37:g.116617112C>T	ENSP00000220888:p.Glu349Lys					TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E349K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K	p.E362K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	1661	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		349					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1084G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427229	0.83667	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.14661	0.345	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61201	0.885;0.771;0.885	T	0.05784	-1.0864	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	353;349;362	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	362;349;303;353;349	ENSP00000379065:E362K;ENSP00000220888:E349K;ENSP00000428910:E303K;ENSP00000428680:E353K;ENSP00000429174:E349K	ENSP00000220888:E349K	E	-	1	0	TRPS1	116686287	1.000000	0.71417	0.999000	0.59377	0.577000	0.36160	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAA		0.408	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		75	370	0	0	0	1	0	75	370				
ZNF701	55762	broad.mit.edu	37	19	53086312	53086312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086312G>A	ENST00000540331.1	+	5	1423	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I	ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I|ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATGTGACAAAGTTTTCAGTCG	0.378																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1198-1200)Gtt>Att		zinc finger protein 701							81.0	84.0	83.0					19																	53086312		2203	4297	6500	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086312G>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1198G>A	19.37:g.53086312G>A	ENSP00000444339:p.Val400Ile					ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I	p.V400I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1423	+			334					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1198G>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562911	0.27915	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.01015	5.44;5.44;5.44	1.87	0.685	0.18009	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	L	0.41961	1.31	0.09310	N	1	P;D	0.63046	0.881;0.992	B;D	0.77004	0.406;0.989	T	0.50065	-0.8871	9	0.72032	D	0.01	.	2.9813	0.05954	0.1571:0.0:0.3677:0.4751	.	400;334	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	334;400;400	ENSP00000375662:V334I;ENSP00000301093:V400I;ENSP00000444339:V400I	ENSP00000301093:V400I	V	+	1	0	ZNF701	57778124	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.156000	0.01283	0.091000	0.17302	0.400000	0.26472	GTT		0.378	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		80	506	0	0	0	1	0	80	506				
GRXCR1	389207	broad.mit.edu	37	4	42895651	42895651	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42895651T>C	ENST00000399770.2	+	1	368	c.368T>C	c.(367-369)tTg>tCg	p.L123S	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	123					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTAACAATTTGACCAAAGTA	0.418																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(367-369)tTg>tCg		glutaredoxin, cysteine rich 1							100.0	99.0	99.0					4																	42895651		1925	4126	6051	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895651T>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.368T>C	4.37:g.42895651T>C	ENSP00000382670:p.Leu123Ser						p.L123S	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	368	+			123						Missense_Mutation	SNP	ENST00000399770.2	37	c.368T>C	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.111100	0.56398	.	.	ENSG00000215203	ENST00000399770	T	0.21191	2.02	5.87	5.87	0.94306	.	0.000000	0.56097	U	0.000023	T	0.42108	0.1188	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.09796	-1.0658	10	0.38643	T	0.18	-9.0137	15.4474	0.75240	0.0:0.0:0.0:1.0	.	123	A8MXD5	GRCR1_HUMAN	S	123	ENSP00000382670:L123S	ENSP00000382670:L123S	L	+	2	0	GRXCR1	42590408	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.693000	0.84214	2.247000	0.74100	0.528000	0.53228	TTG		0.418	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		126	544	0	0	0	1	0	126	544				
RNF17	56163	broad.mit.edu	37	13	25338442	25338442	+	Missense_Mutation	SNP	G	G	T	rs199928537	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25338442G>T	ENST00000255324.5	+	1	153	c.101G>T	c.(100-102)aGg>aTg	p.R34M	RNF17_ENST00000381921.1_Missense_Mutation_p.R34M|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Missense_Mutation_p.R34M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	34					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGTGCACCAGGTGTGGAAGG	0.642																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(100-102)aGg>aTg		ring finger protein 17							45.0	34.0	38.0					13																	25338442		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25338442G>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.101G>T	13.37:g.25338442G>T	ENSP00000255324:p.Arg34Met					RNF17_ENST00000381921.1_Missense_Mutation_p.R34M|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.R34M	p.R34M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	1	153	+		Lung SC(185;0.0225)|Breast(139;0.077)	34					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.101G>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717879	0.48622	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85339	-1.97;-1.97;-1.97	4.4	2.67	0.31697	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.577385	0.14554	N	0.312493	D	0.83069	0.5174	L	0.27053	0.805	0.21445	N	0.99968	P;P;D	0.67145	0.877;0.877;0.996	B;B;P	0.59288	0.436;0.436;0.855	T	0.71938	-0.4441	10	0.72032	D	0.01	.	6.4691	0.21997	0.2226:0.0:0.7774:0.0	.	34;34;34	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	M	34	ENSP00000255324:R34M;ENSP00000371346:R34M;ENSP00000255325:R34M	ENSP00000255324:R34M	R	+	2	0	RNF17	24236442	0.004000	0.15560	0.415000	0.26534	0.096000	0.18686	0.281000	0.18810	0.502000	0.28037	0.511000	0.50034	AGG		0.642	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		5	146	1	0	0.184627	1	0.18487	5	146				
GHDC	84514	broad.mit.edu	37	17	40344950	40344950	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344950G>T	ENST00000301671.8	-	3	802	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K|GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000593209.1_Missense_Mutation_p.Q121K|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000428494.2_Intron			Q8N2G8	GHDC_HUMAN	GH3 domain containing	121						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCAAGGTCCTGGTTTGAGGTC	0.592																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(361-363)Cag>Aag		GH3 domain containing							107.0	121.0	116.0					17																	40344950		2203	4300	6503	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344950G>T	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.361C>A	17.37:g.40344950G>T	ENSP00000301671:p.Gln121Lys					GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K|GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000593209.1_Missense_Mutation_p.Q121K|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K	p.Q121K			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	3	802	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	121					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.361C>A	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.629075	0.28978	.	.	ENSG00000167925	ENST00000393854;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.47	3.42	0.39159	.	0.530530	0.17821	N	0.160851	T	0.26412	0.0645	L	0.29908	0.895	0.09310	N	1	B;B	0.23249	0.082;0.02	B;B	0.21917	0.037;0.006	T	0.06935	-1.0799	9	0.22109	T	0.4	-2.9532	6.5711	0.22539	0.1327:0.0:0.8673:0.0	.	121;121	Q8N2G8-2;Q8N2G8	.;GHDC_HUMAN	K	65;121;121;121	.	ENSP00000301671:Q121K	Q	-	1	0	GHDC	37598476	0.008000	0.16893	0.014000	0.15608	0.028000	0.11728	1.114000	0.31196	2.320000	0.78422	0.561000	0.74099	CAG		0.592	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		143	554	1	0	1.25626e-67	1	1.59178e-67	143	554				
ANXA11	311	broad.mit.edu	37	10	81932582	81932582	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81932582G>T	ENST00000438331.1	-	4	518	c.36C>A	c.(34-36)ggC>ggA	p.G12G	ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000422982.3_Silent_p.G12G|ANXA11_ENST00000265447.4_Silent_p.G12G|ANXA11_ENST00000463657.1_5'Flank	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	12					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTGGTGGGTAGCCACCTGGGG	0.597																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(34-36)ggC>ggA		annexin A11							78.0	81.0	80.0					10																	81932582		2203	4300	6503	SO:0001819	synonymous_variant	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81932582G>T	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.36C>A	10.37:g.81932582G>T						ANXA11_ENST00000265447.4_Silent_p.G12G|ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000422982.3_Silent_p.G12G	p.G12G	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		4	518	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		12					B4DVE7	Silent	SNP	ENST00000438331.1	37	c.36C>A	CCDS7364.1																																																																																				0.597	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		14	499	1	0	2.31682e-05	1	2.36778e-05	14	499				
ZDHHC4	55146	broad.mit.edu	37	7	6628372	6628372	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6628372A>G	ENST00000396706.2	+	8	1309	c.866A>G	c.(865-867)gAg>gGg	p.E289G	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G|C7orf26_ENST00000359073.5_5'Flank|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	289						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACTACTAACGAGTGGTACAGA	0.582																																						ENST00000396706.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(865-867)gAg>gGg		zinc finger, DHHC-type containing 4							133.0	121.0	125.0					7																	6628372		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628372A>G	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.866A>G	7.37:g.6628372A>G	ENSP00000379934:p.Glu289Gly					ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G	p.E289G			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1309	+		Ovarian(82;0.232)	289					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.866A>G	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176650	0.78564	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83001	-0.0177	10	0.87932	D	0	-23.2176	12.751	0.57308	1.0:0.0:0.0:0.0	.	289	Q9NPG8	ZDHC4_HUMAN	G	289	ENSP00000385027:E289G;ENSP00000379941:E289G;ENSP00000379935:E289G;ENSP00000337475:E289G;ENSP00000379937:E289G;ENSP00000379934:E289G	ENSP00000337475:E289G	E	+	2	0	ZDHHC4	6594897	1.000000	0.71417	0.991000	0.47740	0.600000	0.36913	9.011000	0.93618	1.954000	0.56735	0.533000	0.62120	GAG		0.582	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		35	612	0	0	0	1	0	35	612				
UTS2R	2837	broad.mit.edu	37	17	80332627	80332627	+	Missense_Mutation	SNP	G	G	A	rs200671433		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80332627G>A	ENST00000313135.2	+	1	475	c.427G>A	c.(427-429)Gtc>Atc	p.V143I		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	143					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CACGCTGACCGTCATGAGCAG	0.677													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14779	0.0		0.0	False		,,,				2504	0.0					ENST00000313135.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(2)	8						c.(427-429)Gtc>Atc		urotensin 2 receptor		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	38.0	31.0	33.0		427	1.6	0.4	17	dbSNP_132	33	0,8598		0,0,4299	no	missense	UTS2R	NM_018949.1	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	143/390	80332627	1,13003	2203	4299	6502	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332627G>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.427G>A	17.37:g.80332627G>A	ENSP00000323516:p.Val143Ile						p.V143I	NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		1	475	+	Breast(20;0.00106)|all_neural(118;0.0804)		143					B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.427G>A	CCDS11810.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.07	1.826543	0.32329	2.27E-4	0.0	ENSG00000181408	ENST00000313135	T	0.39997	1.05	4.88	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.411084	0.25117	N	0.033019	T	0.30039	0.0752	L	0.41573	1.285	0.31819	N	0.626224	B	0.21520	0.057	B	0.20767	0.031	T	0.24977	-1.0145	10	0.27785	T	0.31	.	8.8159	0.34996	0.0819:0.3003:0.6178:0.0	.	143	Q9UKP6	UR2R_HUMAN	I	143	ENSP00000323516:V143I	ENSP00000323516:V143I	V	+	1	0	UTS2R	77925916	0.479000	0.25925	0.444000	0.26895	0.983000	0.72400	0.913000	0.28611	0.158000	0.19367	0.551000	0.68910	GTC		0.677	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		38	117	0	0	0	1	0	38	117				
ZNF519	162655	broad.mit.edu	37	18	14105441	14105441	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14105441G>A	ENST00000590202.1	-	3	1250	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	366					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGATTCTCTGGTGTTGAGTAA	0.423																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1096-1098)caC>caT		zinc finger protein 519							121.0	123.0	123.0					18																	14105441		2203	4300	6503	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105441G>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1098C>T	18.37:g.14105441G>A						ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	p.H366H	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1250	-			366						Silent	SNP	ENST00000590202.1	37	c.1098C>T	CCDS32797.1																																																																																				0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		114	544	0	0	0	1	0	114	544				
FRY	10129	broad.mit.edu	37	13	32722003	32722003	+	Silent	SNP	T	T	G	rs199638995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32722003T>G	ENST00000380250.3	+	13	1807	c.1311T>G	c.(1309-1311)ctT>ctG	p.L437L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	437						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCACAACACTTTTCCCCAAAG	0.463																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(1309-1311)ctT>ctG		furry homolog (Drosophila)							141.0	136.0	138.0					13																	32722003		1845	4085	5930	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32722003T>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1311T>G	13.37:g.32722003T>G							p.L437L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	13	1807	+		Lung SC(185;0.0271)	437					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.1311T>G	CCDS41875.1																																																																																				0.463	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		80	407	0	0	0	1	0	80	407				
MAP9	79884	broad.mit.edu	37	4	156296174	156296174	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156296174C>T	ENST00000311277.4	-	3	339		c.e3-1		AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Splice_Site|MAP9_ENST00000515654.1_Splice_Site	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9						cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTAGCTCATCCTGAAATGAGA	0.368																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.e3-1		microtubule-associated protein 9							131.0	120.0	124.0					4																	156296174		2203	4300	6503	SO:0001630	splice_region_variant	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156296174C>T	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.76-1G>A	4.37:g.156296174C>T						MAP9_ENST00000379248.2_Splice_Site|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Splice_Site		NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	3	339	-	all_hematologic(180;0.24)	Renal(120;0.0458)						Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Splice_Site	SNP	ENST00000311277.4	37		CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708525	0.68615	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000450097	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2752	0.66175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP9	156515624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	2.428000	0.82296	0.655000	0.94253	.		0.368	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	Intron	27	221	0	0	0	1	0	27	221				
C9orf171	389799	broad.mit.edu	37	9	135374874	135374874	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135374874G>A	ENST00000343036.2	+	4	567	c.519G>A	c.(517-519)gaG>gaA	p.E173E	C9orf171_ENST00000393215.3_Silent_p.E137E|C9orf171_ENST00000393216.2_Silent_p.E137E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	173										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCGGGAGAACTTGCTCT	0.592																																						ENST00000343036.2																			0				large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						c.(517-519)gaG>gaA		chromosome 9 open reading frame 171							86.0	87.0	86.0					9																	135374874		2203	4300	6503	SO:0001819	synonymous_variant	389799							g.chr9:135374874G>A	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.519G>A	9.37:g.135374874G>A						C9orf171_ENST00000393216.2_Silent_p.E137E|C9orf171_ENST00000393215.3_Silent_p.E137E	p.E173E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN			4	567	+			173					Q147X1	Silent	SNP	ENST00000343036.2	37	c.519G>A	CCDS6949.1																																																																																				0.592	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		114	547	0	0	0	1	0	114	547				
AACS	65985	broad.mit.edu	37	12	125576018	125576018	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125576018G>A	ENST00000316519.6	+	5	725	c.519G>A	c.(517-519)gcG>gcA	p.A173A	AACS_ENST00000261686.6_Silent_p.A173A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	173					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCTGGCTGCGGCAAGCATTG	0.572																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(517-519)gcG>gcA		acetoacetyl-CoA synthetase							98.0	79.0	85.0					12																	125576018		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125576018G>A	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.519G>A	12.37:g.125576018G>A						AACS_ENST00000261686.6_Silent_p.A173A	p.A173A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	5	725	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		173					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.519G>A	CCDS9263.1																																																																																				0.572	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		61	245	0	0	0	1	0	61	245				
HIC2	23119	broad.mit.edu	37	22	21800714	21800714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800714C>T	ENST00000443632.2	+	2	1902	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	HIC2_ENST00000407598.2_Silent_p.C510C|HIC2_ENST00000407464.2_Silent_p.C510C			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	510					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GTTCGGTCTGCGAGAAGACCT	0.642																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1528-1530)tgC>tgT		hypermethylated in cancer 2							46.0	48.0	48.0					22																	21800714		2203	4300	6503	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800714C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1530C>T	22.37:g.21800714C>T						HIC2_ENST00000407598.2_Silent_p.C510C|HIC2_ENST00000407464.2_Silent_p.C510C	p.C510C			Q96JB3	HIC2_HUMAN			2	1902	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	510					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.1530C>T	CCDS13789.1																																																																																				0.642	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			61	344	0	0	0	1	0	61	344				
KCNH7	90134	broad.mit.edu	37	2	163693155	163693155	+	Missense_Mutation	SNP	C	C	T	rs138091231	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163693155C>T	ENST00000332142.5	-	2	298	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	67	PAS.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGAGAAAGTCGCAGGTGCAT	0.507													C|||	3	0.000599042	0.0	0.0043	5008	,	,		16479	0.0		0.0	False		,,,				2504	0.0				GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(199-201)Gac>Aac		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	96.0	80.0	85.0		199,199	5.9	1.0	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH7	NM_033272.3,NM_173162.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	67/1197,67/733	163693155	1,13005	2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163693155C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.199G>A	2.37:g.163693155C>T	ENSP00000331727:p.Asp67Asn					KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			2	298	-			67			PAS.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.199G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479148	0.96307	0.0	1.16E-4	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99563	-6.17;-6.17	5.87	5.87	0.94306	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	L	0.46741	1.465	0.58432	D	0.999997	P;P	0.42483	0.781;0.477	B;P	0.48270	0.307;0.572	D	0.99880	1.1112	10	0.52906	T	0.07	.	19.1942	0.93681	0.0:1.0:0.0:0.0	.	67;67	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	67	ENSP00000331727:D67N;ENSP00000333781:D67N	ENSP00000333781:D67N	D	-	1	0	KCNH7	163401401	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.913000	0.63341	2.785000	0.95823	0.655000	0.94253	GAC		0.507	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		71	199	0	0	0	1	0	71	199				
EYA1	2138	broad.mit.edu	37	8	72184056	72184056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184056C>T	ENST00000340726.3	-	10	1542	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388743.2_Silent_p.G300G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	301					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACGTGATTTCCCATCTGAAC	0.468																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(901-903)ggG>ggA		eyes absent homolog 1 (Drosophila)							251.0	231.0	237.0					8																	72184056		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184056C>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.903G>A	8.37:g.72184056C>T						EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388740.3_Silent_p.G268G	p.G301G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		10	1542	-	Breast(64;0.046)		301					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.903G>A	CCDS34906.1																																																																																				0.468	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		175	795	0	0	0	1	0	175	795				
ALLC	55821	broad.mit.edu	37	2	3727504	3727504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3727504G>A	ENST00000252505.3	+	5	380	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	92					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTCATCCGGGGCTTCGAC	0.552										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(217-219)cGg>cAg		allantoicase							152.0	162.0	159.0					2																	3727504		2119	4216	6335	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727504G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.218G>A	2.37:g.3727504G>A	ENSP00000252505:p.Arg73Gln	HNSCC(21;0.051)					p.R73Q	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	380	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	92					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.218G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357656	0.41801	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	2.92	0.33932	Allantoicase domain (1);Galactose-binding domain-like (1);	0.384865	0.29572	N	0.011780	T	0.34135	0.0887	L	0.55743	1.74	0.31510	N	0.663645	B	0.30021	0.265	B	0.24155	0.051	T	0.29731	-1.0002	9	0.28530	T	0.3	-16.8036	3.8873	0.09103	0.2449:0.0:0.5818:0.1733	.	92	Q8N6M5	ALLC_HUMAN	Q	73	.	ENSP00000252505:R73Q	R	+	2	0	ALLC	3705379	0.993000	0.37304	0.953000	0.39169	0.496000	0.33645	1.576000	0.36504	0.865000	0.35603	0.655000	0.94253	CGG		0.552	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			138	457	0	0	0	1	0	138	457				
MPP7	143098	broad.mit.edu	37	10	28345483	28345483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28345483G>A	ENST00000375732.1	-	16	1736	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MPP7_ENST00000540098.1_Missense_Mutation_p.R493C|MPP7_ENST00000337532.5_Missense_Mutation_p.R493C|MPP7_ENST00000375719.3_Missense_Mutation_p.R493C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	493	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTCTCAAACGCTCTATTGAT	0.373																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1477-1479)Cgt>Tgt		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							171.0	169.0	170.0					10																	28345483		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28345483G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1477C>T	10.37:g.28345483G>A	ENSP00000364884:p.Arg493Cys					MPP7_ENST00000540098.1_Missense_Mutation_p.R493C|MPP7_ENST00000375719.3_Missense_Mutation_p.R493C|MPP7_ENST00000375732.1_Missense_Mutation_p.R493C	p.R493C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			17	1753	-			493			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.1477C>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873324	0.72180	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.72	5.72	0.89469	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.39467	1.215	0.80722	D	1	B	0.33964	0.434	B	0.31614	0.133	T	0.19128	-1.0315	10	0.48119	T	0.1	.	19.876	0.96870	0.0:0.0:1.0:0.0	.	493	Q5T2T1	MPP7_HUMAN	C	493;493;493;493;254	ENSP00000364884:R493C;ENSP00000337907:R493C;ENSP00000438693:R493C;ENSP00000364871:R493C;ENSP00000398319:R254C	ENSP00000337907:R493C	R	-	1	0	MPP7	28385489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.986000	0.63851	2.709000	0.92574	0.591000	0.81541	CGT		0.373	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		54	615	0	0	0	1	0	54	615				
ZNF559	84527	broad.mit.edu	37	19	9452958	9452958	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9452958C>T	ENST00000393883.2	+	6	1479	c.831C>T	c.(829-831)gcC>gcT	p.A277A	ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.A197A|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGGCAAAGCCTTTGCTTTTT	0.348																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(829-831)gcC>gcT		zinc finger protein 559							83.0	90.0	88.0					19																	9452958		2203	4300	6503	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452958C>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.831C>T	19.37:g.9452958C>T						ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.A197A	p.A277A	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1479	+			277					K7EMG6	Silent	SNP	ENST00000393883.2	37	c.831C>T	CCDS12211.1																																																																																				0.348	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		87	423	0	0	0	1	0	87	423				
CORO2B	10391	broad.mit.edu	37	15	69006382	69006382	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69006382T>C	ENST00000566799.1	+	6	794		c.e6+2		CORO2B_ENST00000543950.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site|CORO2B_ENST00000540068.1_Splice_Site			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B						actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGACCAGGTCAGCCACGGG	0.607																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.e6+2		coronin, actin binding protein, 2B							58.0	46.0	50.0					15																	69006382		2200	4298	6498	SO:0001630	splice_region_variant	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69006382T>C	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.765+2T>C	15.37:g.69006382T>C						CORO2B_ENST00000540068.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site|CORO2B_ENST00000566799.1_Splice_Site		NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			6	1104	+								A8K0W3|O94767|Q8TAN1	Splice_Site	SNP	ENST00000566799.1	37		CCDS10229.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601805	0.87055	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3006	0.60324	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CORO2B	66793436	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.899000	0.87370	2.018000	0.59344	0.533000	0.62120	.		0.607	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	Intron	8	199	0	0	0	1	0	8	199				
ABCA12	26154	broad.mit.edu	37	2	215815716	215815716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815716C>T	ENST00000272895.7	-	45	6958	c.6739G>A	c.(6739-6741)Ggt>Agt	p.G2247S	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2247					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAGCTGCACCACTCTCAACT	0.378																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6739-6741)Ggt>Agt		ATP-binding cassette, sub-family A (ABC1), member 12							224.0	220.0	222.0					2																	215815716		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215815716C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6739G>A	2.37:g.215815716C>T	ENSP00000272895:p.Gly2247Ser					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S	p.G2247S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	45	6958	-		Renal(323;0.127)	2247					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6739G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057706	0.76074	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89270	-2.49;-2.45	5.61	5.61	0.85477	.	0.374382	0.25768	N	0.028440	D	0.92795	0.7709	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	D	0.93225	0.6612	10	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	2247;1929	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2247;1929	ENSP00000272895:G2247S;ENSP00000374312:G1929S	ENSP00000272895:G2247S	G	-	1	0	ABCA12	215523961	1.000000	0.71417	0.909000	0.35828	0.181000	0.23173	7.031000	0.76491	2.639000	0.89480	0.555000	0.69702	GGT		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		133	738	0	0	0	1	0	133	738				
CCDC88C	440193	broad.mit.edu	37	14	91766410	91766410	+	Missense_Mutation	SNP	C	C	T	rs183646530	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91766410C>T	ENST00000389857.6	-	21	3726	c.3640G>A	c.(3640-3642)Ggt>Agt	p.G1214S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1214					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCATGTCACCGTGCCTGTTG	0.617													C|||	5	0.000998403	0.0	0.0029	5008	,	,		18277	0.001		0.002	False		,,,				2504	0.0					ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3640-3642)Ggt>Agt		coiled-coil domain containing 88C		C	SER/GLY	0,4202		0,0,2101	21.0	24.0	23.0		3640	-4.3	0.0	14		23	11,8453		0,11,4221	yes	missense	CCDC88C	NM_001080414.3	56	0,11,6322	TT,TC,CC		0.13,0.0,0.0868	benign	1214/2029	91766410	11,12655	2101	4232	6333	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91766410C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3640G>A	14.37:g.91766410C>T	ENSP00000374507:p.Gly1214Ser						p.G1214S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			21	3726	-		all_cancers(154;0.0468)	1214					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3640G>A	CCDS45151.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.112	0.388845	0.11581	0.0	0.0013	ENSG00000015133	ENST00000389857	T	0.12984	2.63	5.24	-4.35	0.03656	.	1.052770	0.07579	N	0.919860	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40117	-0.9580	10	0.36615	T	0.2	-1.4689	13.216	0.59861	0.0:0.2191:0.0:0.7809	.	1214	Q9P219	DAPLE_HUMAN	S	1214	ENSP00000374507:G1214S	ENSP00000374507:G1214S	G	-	1	0	CCDC88C	90836163	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.734000	0.04843	-1.058000	0.02302	GGT		0.617	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		8	58	0	0	0	1	0	8	58				
FIP1L1	81608	broad.mit.edu	37	4	54319276	54319276	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54319276G>T	ENST00000337488.6	+	16	1669	c.1475G>T	c.(1474-1476)aGt>aTt	p.S492I	FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	492	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGTGATCACAGTCCTACACCA	0.438			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1474-1476)aGt>aTt		factor interacting with PAPOLA and CPSF1							73.0	64.0	67.0					4																	54319276		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319276G>T	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1475G>T	4.37:g.54319276G>T	ENSP00000336752:p.Ser492Ile					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I	p.S492I	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1669	+			492			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.1475G>T	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397827	0.83120	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T	0.23348	1.91;1.91;2.44	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.64830	0.994;0.99;0.994;0.99	D;D;D;D	0.71870	0.975;0.944;0.975;0.962	T	0.46762	-0.9168	10	0.87932	D	0	-18.3904	19.2835	0.94061	0.0:0.0:1.0:0.0	.	486;486;418;492	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	I	492;486;418;149	ENSP00000336752:S492I;ENSP00000351383:S486I;ENSP00000302993:S418I	ENSP00000302993:S418I	S	+	2	0	FIP1L1	54014033	1.000000	0.71417	0.965000	0.40720	0.791000	0.44710	7.484000	0.81180	2.641000	0.89580	0.655000	0.94253	AGT		0.438	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		70	307	1	0	1.31311e-47	1	1.61703e-47	70	307				
LRCH3	84859	broad.mit.edu	37	3	197541787	197541787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197541787C>T	ENST00000425562.2	+	2	271	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*|LRCH3_ENST00000438796.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	91						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGACCTGTCGCGAAATCGCCT	0.299																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(271-273)Cga>Tga		leucine-rich repeats and calponin homology (CH) domain containing 3							39.0	42.0	41.0					3																	197541787		2200	4296	6496	SO:0001587	stop_gained	84859					extracellular region		g.chr3:197541787C>T	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.271C>T	3.37:g.197541787C>T	ENSP00000393579:p.Arg91*					LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*	p.R91*			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	2	315	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		91					B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	37	c.271C>T		.	.	.	.	.	.	.	.	.	.	C	29.5	5.012238	0.93346	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.6	3.73	0.42828	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1685	13.5675	0.61826	0.4031:0.5969:0.0:0.0	.	.	.	.	X	91	.	ENSP00000334375:R91X	R	+	1	2	LRCH3	199026184	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	1.360000	0.45960	0.650000	0.86243	CGA		0.299	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		40	161	0	0	0	1	0	40	161				
GNAS	2778	broad.mit.edu	37	20	57484236	57484236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57484236G>A	ENST00000371085.3	+	7	974	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000371100.4_Missense_Mutation_p.V827M	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	184					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAAGATCGACGTGATCAAGCA	0.512			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2479-2481)Gtg>Atg		GNAS complex locus							256.0	250.0	252.0					20																	57484236		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484236G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.550G>A	20.37:g.57484236G>A	ENSP00000360126:p.Val184Met	TSP Lung(22;0.16)				GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M|GNAS_ENST00000371085.3_Missense_Mutation_p.V184M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR	p.V827M	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		7	3031	+	all_lung(29;0.0104)		184					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2479G>A	CCDS13472.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.938338|2.938338	0.52972|0.52972	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	.|D;D;D;D;D;D;D	.|0.88354	.|-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.94|4.94	2.98|2.98	0.34508|0.34508	.|G protein alpha subunit, helical insertion (4);	.|0.238750	.|0.39687	.|N	.|0.001297	D|D	0.89935|0.89935	0.6859|0.6859	L|L	0.51422|0.51422	1.61|1.61	0.42872|0.42872	D|D	0.994142|0.994142	.|P;P;B;D	.|0.76494	.|0.65;0.76;0.412;0.999	.|B;B;B;D	.|0.69142	.|0.221;0.322;0.141;0.962	D|D	0.88589|0.88589	0.3142|0.3142	5|10	.|0.66056	.|D	.|0.02	.|.	4.7344|4.7344	0.12981|0.12981	0.407:0.0:0.593:0.0|0.407:0.0:0.593:0.0	.|.	.|184;185;169;827	.|P63092;A6NI00;P63092-3;Q5JWF2	.|GNAS2_HUMAN;.;.;GNAS1_HUMAN	H|M	198|827;813;170;184;185;169;170	.|ENSP00000360141:V827M;ENSP00000360143:V813M;ENSP00000360136:V170M;ENSP00000360126:V184M;ENSP00000346328:V185M;ENSP00000265620:V169M;ENSP00000304472:V170M	.|ENSP00000265620:V169M	R|V	+|+	2|1	0|0	GNAS|GNAS	56917631|56917631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.849000|0.849000	0.48306|0.48306	3.848000|3.848000	0.55903|0.55903	1.392000|1.392000	0.46585|0.46585	-0.150000|-0.150000	0.13652|0.13652	CGT|GTG		0.512	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		62	1413	0	0	0	1	0	62	1413				
SMPD4P1	645280	broad.mit.edu	37	22	20970592	20970592	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20970592C>A	ENST00000443839.1	-	0	2032									sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1																		CAGCTCAGCTCTCACCCGGAG	0.557																																						ENST00000443839.1																			0																																																			0							g.chr22:20970592C>A			22q11.21	2011-03-22			ENSG00000223553	ENSG00000223553			39673	pseudogene	pseudogene							Standard	NG_028286		Approved				OTTHUMG00000030245		22.37:g.20970592C>A														0	2032	-									RNA	SNP	ENST00000443839.1	37																																																																																						0.557	SMPD4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319965.1			17	55	1	0	1.15088e-07	1	1.19614e-07	17	55				
SEL1L2	80343	broad.mit.edu	37	20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13830889G>A	ENST00000284951.5	-	19	1969	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	632						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1894-1896)gCc>gTc		sel-1 suppressor of lin-12-like 2 (C. elegans)							113.0	110.0	111.0					20																	13830889		1988	4163	6151	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830889G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1895C>T	20.37:g.13830889G>A	ENSP00000284951:p.Ala632Val					SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V|SEL1L2_ENST00000486903.1_5'UTR	p.A632V			Q5TEA6	SE1L2_HUMAN			19	1969	-			632					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1895C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.457295	0.96223	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58940	0.3;1.77	5.97	5.97	0.96955	.	0.092184	0.47852	D	0.000215	T	0.77505	0.4140	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	T	0.78494	-0.2182	10	0.66056	D	0.02	-4.6879	17.9177	0.88957	0.0:0.0:1.0:0.0	.	519;632	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	519;632	ENSP00000367312:A519V;ENSP00000284951:A632V	ENSP00000284951:A632V	A	-	2	0	SEL1L2	13778889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.775000	0.91772	2.828000	0.97474	0.655000	0.94253	GCC		0.458	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		73	283	0	0	0	1	0	73	283				
KRTAP17-1	83902	broad.mit.edu	37	17	39471738	39471738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39471738C>T	ENST00000334202.3	-	1	209	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	55						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cacagcaagacgatccgcagc	0.706																																						ENST00000334202.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(163-165)tcG>tcA		keratin associated protein 17-1							17.0	24.0	22.0					17																	39471738		2187	4273	6460	SO:0001819	synonymous_variant	83902					intermediate filament		g.chr17:39471738C>T	AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"""Keratin associated proteins"""	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.165G>A	17.37:g.39471738C>T							p.S55S	NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	209	-		Breast(137;0.000496)	55						Silent	SNP	ENST00000334202.3	37	c.165G>A	CCDS11387.1																																																																																				0.706	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1			16	72	0	0	0	1	0	16	72				
ABCA13	154664	broad.mit.edu	37	7	48259027	48259027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259027G>A	ENST00000435803.1	+	4	388	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	122					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAAGACCTGGCAGAGGAAAT	0.398																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(364-366)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 13							92.0	88.0	89.0					7																	48259027		1829	4086	5915	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48259027G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.364G>A	7.37:g.48259027G>A	ENSP00000411096:p.Ala122Thr						p.A122T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			4	388	+			122					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.364G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499576	0.64298	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	5.58	4.69	0.59074	.	0.000000	0.47455	D	0.000231	D	0.90916	0.7145	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.65233	0.859;0.933	D	0.90794	0.4689	10	0.51188	T	0.08	.	12.2406	0.54540	0.0:0.0:0.8302:0.1698	.	122;122	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	T	122	ENSP00000411096:A122T	ENSP00000409268:A122T	A	+	1	0	ABCA13	48229573	0.834000	0.29399	0.069000	0.20011	0.532000	0.34746	1.626000	0.37039	1.466000	0.48025	0.655000	0.94253	GCA		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		95	308	0	0	0	1	0	95	308				
NOX5	79400	broad.mit.edu	37	15	69324134	69324134	+	Missense_Mutation	SNP	T	T	C	rs377391333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69324134T>C	ENST00000388866.3	+	4	643	c.602T>C	c.(601-603)aTg>aCg	p.M201T	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.M173T|NOX5_ENST00000260364.5_Missense_Mutation_p.M183T|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	201					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCGGAGTCATGGAGAACCTG	0.662																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(547-549)aTg>aCg		NADPH oxidase, EF-hand calcium binding domain 5		T	THR/MET,THR/MET,THR/MET	1,4397		0,1,2198	18.0	18.0	18.0		518,497,602	0.9	1.0	15		18	0,8596		0,0,4298	no	missense,missense,missense	NOX5	NM_001184779.1,NM_001184780.1,NM_024505.3	81,81,81	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	173/738,166/731,201/766	69324134	1,12993	2199	4298	6497	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69324134T>C	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.602T>C	15.37:g.69324134T>C	ENSP00000373518:p.Met201Thr					NOX5_ENST00000530406.2_Missense_Mutation_p.M173T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000388866.3_Missense_Mutation_p.M201T	p.M183T			Q96PH1	NOX5_HUMAN			5	849	+			201			EF-hand 4.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.548T>C	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234200	0.58886	2.27E-4	0.0	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.66995	-0.24;1.6;-0.24	3.33	0.912	0.19349	EF-hand-like domain (1);	0.161027	0.52532	U	0.000077	T	0.49423	0.1556	L	0.41961	1.31	0.41937	D	0.990592	B;B;B	0.20550	0.046;0.022;0.019	B;B;B	0.14578	0.011;0.004;0.011	T	0.23226	-1.0194	10	0.13470	T	0.59	.	6.9543	0.24562	0.0:0.1942:0.0:0.8058	.	166;201;173	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	T	166;183;201;173	ENSP00000416828:M166T;ENSP00000373518:M201T;ENSP00000432440:M173T	ENSP00000373518:M201T	M	+	2	0	NOX5	67111188	1.000000	0.71417	0.962000	0.40283	0.849000	0.48306	3.638000	0.54332	-0.118000	0.11851	-0.628000	0.03992	ATG		0.662	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		20	93	0	0	0	1	0	20	93				
FAAH2	158584	broad.mit.edu	37	X	57318998	57318998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57318998G>A	ENST00000374900.4	+	2	380	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	87						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATCAATGGAATTGTCAAG	0.393										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(259-261)gGa>gAa		fatty acid amide hydrolase 2							171.0	151.0	158.0					X																	57318998		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57318998G>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.260G>A	X.37:g.57318998G>A	ENSP00000364035:p.Gly87Glu	HNSCC(52;0.14)					p.G87E	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			2	380	+			87					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.260G>A	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.802073	0.31869	.	.	ENSG00000165591	ENST00000374900	T	0.54675	0.56	2.95	1.94	0.25998	Amidase signature domain (2);	0.068514	0.56097	U	0.000026	T	0.38427	0.1040	N	0.14661	0.345	0.24366	N	0.994852	B	0.29571	0.249	B	0.41135	0.348	T	0.37820	-0.9689	10	0.72032	D	0.01	.	6.5532	0.22446	0.0:0.4334:0.5666:0.0	.	87	Q6GMR7	FAAH2_HUMAN	E	87	ENSP00000364035:G87E	ENSP00000364035:G87E	G	+	2	0	FAAH2	57335723	1.000000	0.71417	0.978000	0.43139	0.943000	0.58893	1.589000	0.36644	1.215000	0.43411	0.594000	0.82650	GGA		0.393	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		95	312	0	0	0	1	0	95	312				
SP140L	93349	broad.mit.edu	37	2	231235641	231235641	+	Missense_Mutation	SNP	C	C	T	rs183430708	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231235641C>T	ENST00000415673.2	+	6	628	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SP140L_ENST00000243810.6_Missense_Mutation_p.P181L|SP140L_ENST00000444636.1_Missense_Mutation_p.P181L|SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000396563.4_Missense_Mutation_p.P181L	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	181						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCAGAAAGCCCGGAAGCAAGG	0.532																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(541-543)cCg>cTg		SP140 nuclear body protein-like		C	LEU/PRO	1,3957		0,1,1978	73.0	79.0	77.0		542	-2.5	0.0	2		77	4,8316		0,4,4156	yes	missense	SP140L	NM_138402.4	98	0,5,6134	TT,TC,CC		0.0481,0.0253,0.0407	benign	181/581	231235641	5,12273	1979	4160	6139	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231235641C>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.542C>T	2.37:g.231235641C>T	ENSP00000397911:p.Pro181Leu					SP140L_ENST00000396563.4_Missense_Mutation_p.P181L|SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000415673.2_Missense_Mutation_p.P181L|SP140L_ENST00000444636.1_Missense_Mutation_p.P181L	p.P181L			Q9H930	LY10L_HUMAN			6	542	+			181					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.542C>T	CCDS46538.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.96	1.498004	0.26861	2.53E-4	4.81E-4	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.83914	-1.58;-1.22;-1.58;-1.78;0.79	2.26	-2.5	0.06384	.	.	.	.	.	T	0.66655	0.2811	L	0.40543	1.245	0.09310	N	1	B;B	0.26809	0.017;0.16	B;B	0.22753	0.006;0.041	T	0.52396	-0.8581	9	0.07325	T	0.83	.	4.1643	0.10300	0.2946:0.5149:0.0:0.1905	.	94;181	Q9H930-3;Q9H930-4	.;.	L	181;181;181;181;94	ENSP00000395195:P181L;ENSP00000397911:P181L;ENSP00000243810:P181L;ENSP00000379811:P181L;ENSP00000395223:P94L	ENSP00000243810:P181L	P	+	2	0	SP140L	230943885	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.520000	0.02241	-0.549000	0.06191	0.313000	0.20887	CCG		0.532	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		25	113	0	0	0	1	0	25	113				
NAA38	84316	broad.mit.edu	37	17	7760629	7760629	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7760629G>A	ENST00000335155.5	-	1	81				LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575771.1_Intron|CYB5D1_ENST00000570446.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000333775.5_Missense_Mutation_p.A38V|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000575208.1_Intron			Q9BRA0	LSMD1_HUMAN							negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GCTGCCGGGAGCTGCAGTTCC	0.682																																					GBM(66;626 1401 29924 42527)	ENST00000333775.5																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(112-114)gCt>gTt		LSM domain containing 1							17.0	23.0	21.0					17																	7760629		2193	4285	6478	SO:0001627	intron_variant	84316					cytoplasm|nucleus		g.chr17:7760629G>A																												ENST00000335155.5:c.81+71C>T	17.37:g.7760629G>A						LSMD1_ENST00000335155.5_Intron|LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000576861.1_Intron	p.A38V	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN			1	543	-		all_cancers(10;0.11)|Prostate(122;0.219)	0					Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	37	c.113C>T		.	.	.	.	.	.	.	.	.	.	G	19.16	3.773995	0.69992	.	.	ENSG00000183011	ENST00000333775	T	0.52754	0.65	5.58	4.61	0.57282	.	0.561410	0.16748	N	0.201145	T	0.32675	0.0837	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.13407	0.009	T	0.08146	-1.0736	8	.	.	.	.	9.5983	0.39587	0.0985:0.0:0.9015:0.0	.	38	Q9BRA0-2	.	V	38	ENSP00000332103:A38V	.	A	-	2	0	LSMD1	7701354	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.681000	0.25320	1.337000	0.45525	0.561000	0.74099	GCT		0.682	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				48	268	0	0	0	1	0	48	268				
ZNF337	26152	broad.mit.edu	37	20	25656542	25656542	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656542A>G	ENST00000376436.1	-	4	1921	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCCTTGCACACAAAAGGCTT	0.468																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1381-1383)gTg>gCg		zinc finger protein 337							156.0	134.0	141.0					20																	25656542		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656542A>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1382T>C	20.37:g.25656542A>G	ENSP00000365619:p.Val461Ala					RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|RP4-694B14.5_ENST00000439498.1_RNA	p.V461A							4	1921	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1382T>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.562285	0.45694	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	L	0.31294	0.92	0.09310	N	1	P;P	0.36587	0.559;0.559	B;B	0.28305	0.088;0.088	T	0.26815	-1.0092	9	0.25751	T	0.34	.	6.387	0.21566	1.0:0.0:0.0:0.0	.	429;461	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	461;461;461;429	ENSP00000365619:V461A;ENSP00000252979:V461A;ENSP00000442181:V429A	ENSP00000252979:V461A	V	-	2	0	ZNF337	25604542	0.000000	0.05858	0.091000	0.20842	0.768000	0.43524	-0.747000	0.04823	0.742000	0.32697	0.248000	0.18094	GTG		0.468	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			67	702	0	0	0	1	0	67	702				
EPHB4	2050	broad.mit.edu	37	7	100420110	100420110	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420110G>A	ENST00000358173.3	-	4	1059	c.591C>T	c.(589-591)tgC>tgT	p.C197C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C197C|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	197	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAGCTGGGCGCACTTTTTGT	0.642																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(589-591)tgC>tgT		EPH receptor B4							58.0	59.0	58.0					7																	100420110		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100420110G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.591C>T	7.37:g.100420110G>A						EPHB4_ENST00000360620.3_Silent_p.C197C|EPHB4_ENST00000477446.1_5'UTR	p.C197C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			4	1059	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		197			Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.591C>T	CCDS5706.1																																																																																				0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		27	116	0	0	0	1	0	27	116				
GK2	2712	broad.mit.edu	37	4	80328787	80328787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328787C>T	ENST00000358842.3	-	1	585	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0	Substrate binding.				carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTCCATTAACTCCTCCTGTC	0.398																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(568-570)Gtt>Att		glycerol kinase 2							109.0	105.0	106.0					4																	80328787		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328787C>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.568G>A	4.37:g.80328787C>T	ENSP00000351706:p.Val190Ile						p.V190I	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	585	-			190					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.568G>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	0.675	-0.800609	0.02841	.	.	ENSG00000196475	ENST00000358842	T	0.57907	0.37	3.76	2.92	0.33932	Carbohydrate kinase, FGGY, N-terminal (1);	0.464515	0.22498	N	0.059269	T	0.36358	0.0964	L	0.38649	1.16	0.09310	N	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.12682	-1.0538	10	0.24483	T	0.36	-16.8897	5.7773	0.18287	0.0:0.766:0.0:0.2339	.	190	Q14410	GLPK2_HUMAN	I	190	ENSP00000351706:V190I	ENSP00000351706:V190I	V	-	1	0	GK2	80547811	0.081000	0.21417	0.539000	0.28077	0.083000	0.17756	1.572000	0.36461	1.185000	0.42971	0.585000	0.79938	GTT		0.398	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		80	422	0	0	0	1	0	80	422				
PDIA3	2923	broad.mit.edu	37	15	44037246	44037246	+	5'Flank	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44037246G>T	ENST00000300289.5	+	0	0				CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000538521.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GTGTGTCGCAGCACAGCTTGG	0.448																																						ENST00000381680.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr15:44037246G>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444		15.37:g.44037246G>T	Exception_encountered							NR_002318.2						0	377	-								Q13453|Q14255|Q8IYF8|Q9UMU7	RNA	SNP	ENST00000300289.5	37		CCDS10101.1																																																																																				0.448	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		102	441	1	0	4.38384e-63	1	5.5302e-63	102	441				
THEMIS2	9473	broad.mit.edu	37	1	28206557	28206557	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28206557T>C	ENST00000373921.3	+	3	642	c.638T>C	c.(637-639)aTc>aCc	p.I213T	THEMIS2_ENST00000328928.7_Missense_Mutation_p.I213T|THEMIS2_ENST00000373925.1_Missense_Mutation_p.I213T|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	213	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATCCAAGCCATCATGCACAGT	0.622																																						ENST00000373921.3																			0											c.(637-639)aTc>aCc		thymocyte selection associated family member 2							35.0	30.0	32.0					1																	28206557		2203	4300	6503	SO:0001583	missense	9473							g.chr1:28206557T>C	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.638T>C	1.37:g.28206557T>C	ENSP00000363031:p.Ile213Thr					THEMIS2_ENST00000328928.7_Missense_Mutation_p.I213T|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Missense_Mutation_p.I213T	p.I213T	NM_001105556.1	NP_001099026.1					3	642	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.638T>C	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.10|17.10	3.302632|3.302632	0.60195|0.60195	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.14640|.	2.49;2.49|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.162316|.	0.52532|.	D|.	0.000075|.	T|T	0.65565|0.65565	0.2703|0.2703	M|M	0.64404|0.64404	1.975|1.975	0.39996|0.39996	D|D	0.975107|0.975107	D;P;P|.	0.89917|.	1.0;0.856;0.865|.	D;P;P|.	0.87578|.	0.998;0.657;0.521|.	T|T	0.66571|0.66571	-0.5890|-0.5890	10|5	0.36615|.	T|.	0.2|.	-32.1567|-32.1567	12.6325|12.6325	0.56665|0.56665	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	213;213;213|.	Q5TEJ8-5;Q5TEJ8;Q5TEJ8-2|.	.;THMS2_HUMAN;.|.	T|P	213|106	ENSP00000329862:I213T;ENSP00000363031:I213T|.	ENSP00000329862:I213T|.	I|S	+|+	2|1	0|0	C1orf38|C1orf38	28079144|28079144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.132000|3.132000	0.50523|0.50523	1.930000|1.930000	0.55929|0.55929	0.459000|0.459000	0.35465|0.35465	ATC|TCA		0.622	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		5	95	0	0	0	1	0	5	95				
VCAM1	7412	broad.mit.edu	37	1	101194700	101194700	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101194700G>A	ENST00000294728.2	+	5	1067	c.966G>A	c.(964-966)cgG>cgA	p.R322R	VCAM1_ENST00000370119.4_Silent_p.R260R|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	322	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGGACCCCGGATTGCTGCTC	0.448																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(964-966)cgG>cgA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						108.0	113.0	111.0					1																	101194700		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194700G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.966G>A	1.37:g.101194700G>A						VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Silent_p.R260R	p.R322R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1067	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	322			Ig-like C2-type 4.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.966G>A	CCDS773.1																																																																																				0.448	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		19	513	0	0	0	1	0	19	513				
TAF4	6874	broad.mit.edu	37	20	60585189	60585189	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60585189C>T	ENST00000252996.4	-	4	1673	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	558					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CAAGTGAAGCCGTCTGGGCAG	0.622																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1672-1674)acG>acA		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							82.0	71.0	75.0					20																	60585189		2203	4300	6503	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60585189C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1674G>A	20.37:g.60585189C>T							p.T558T	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		4	1673	-	Breast(26;1e-08)		558					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.1674G>A	CCDS33500.1																																																																																				0.622	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		52	330	0	0	0	1	0	52	330				
SPTA1	6708	broad.mit.edu	37	1	158653211	158653211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158653211T>C	ENST00000368147.4	-	3	520	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	114					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.T114A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCCCTTGTTTTTTCCAGT	0.378																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.T114A(1)	large_intestine(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(340-342)Aca>Gca		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							235.0	210.0	218.0					1																	158653211		1858	4108	5966	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158653211T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.340A>G	1.37:g.158653211T>C	ENSP00000357129:p.Thr114Ala					SPTA1_ENST00000368147.3_Missense_Mutation_p.T114A	p.T114A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			3	520	-	all_hematologic(112;0.0378)		114					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.340A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560385	0.27827	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	6.17	3.8	0.43715	.	0.857574	0.09455	N	0.799845	T	0.20780	0.0500	L	0.33189	0.99	0.33042	D	0.531638	B	0.16396	0.017	B	0.34452	0.183	T	0.19943	-1.0290	10	0.09084	T	0.74	.	12.4308	0.55573	0.0:0.0:0.265:0.735	.	114	P02549	SPTA1_HUMAN	A	114	ENSP00000357130:T114A;ENSP00000357129:T114A	ENSP00000357129:T114A	T	-	1	0	SPTA1	156919835	1.000000	0.71417	0.010000	0.14722	0.003000	0.03518	4.297000	0.59061	0.518000	0.28383	0.533000	0.62120	ACA		0.378	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		28	376	0	0	0	1	0	28	376				
TLN1	7094	broad.mit.edu	37	9	35714813	35714813	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35714813C>G	ENST00000314888.9	-	22	3168	c.2815G>C	c.(2815-2817)Gcc>Ccc	p.A939P	TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	939					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTAGAGGCTGCGTGCTGA	0.602																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2815-2817)Gcc>Ccc		talin 1							46.0	53.0	50.0					9																	35714813		2202	4300	6502	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35714813C>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2815G>C	9.37:g.35714813C>G	ENSP00000316029:p.Ala939Pro					TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	p.A939P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		22	3168	-	all_epithelial(49;0.167)		939					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2815G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717139	0.48622	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70282	-0.45;-0.47	5.7	2.84	0.33178	.	0.102948	0.64402	D	0.000002	T	0.63581	0.2523	L	0.60455	1.87	0.58432	D	0.999996	P	0.40398	0.716	B	0.40228	0.323	T	0.60378	-0.7275	10	0.62326	D	0.03	-5.7164	6.1779	0.20455	0.3731:0.4927:0.0:0.1343	.	939	Q9Y490	TLN1_HUMAN	P	939	ENSP00000316029:A939P;ENSP00000442981:A939P	ENSP00000316029:A939P	A	-	1	0	TLN1	35704813	0.557000	0.26546	0.994000	0.49952	0.622000	0.37654	1.239000	0.32719	0.329000	0.23460	0.655000	0.94253	GCC		0.602	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		73	440	0	0	0	1	0	73	440				
PLD2	5338	broad.mit.edu	37	17	4725101	4725101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4725101G>A	ENST00000263088.6	+	24	2607	c.2476G>A	c.(2476-2478)Gca>Aca	p.A826T	PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	826					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GATTCTTGGAGCAAATACCCG	0.488																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2476-2478)Gca>Aca		phospholipase D2	Choline(DB00122)						114.0	112.0	112.0					17																	4725101		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4725101G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2476G>A	17.37:g.4725101G>A	ENSP00000263088:p.Ala826Thr					PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	p.A826T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			24	2607	+			826					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.2476G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	g	12.89	2.073206	0.36566	.	.	ENSG00000129219	ENST00000263088	T	0.07021	3.23	4.84	4.84	0.62591	.	0.058029	0.64402	D	0.000002	T	0.12263	0.0298	M	0.70595	2.14	0.46874	D	0.999236	B;B	0.20550	0.046;0.017	B;B	0.22753	0.041;0.019	T	0.03463	-1.1034	10	0.27082	T	0.32	-14.3174	13.3112	0.60380	0.0:0.0:1.0:0.0	.	815;826	O14939-2;O14939	.;PLD2_HUMAN	T	826	ENSP00000263088:A826T	ENSP00000263088:A826T	A	+	1	0	PLD2	4672067	1.000000	0.71417	0.992000	0.48379	0.541000	0.35023	4.468000	0.60162	2.532000	0.85374	0.457000	0.33378	GCA		0.488	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		114	530	0	0	0	1	0	114	530				
GLIPR2	152007	broad.mit.edu	37	9	36148567	36148567	+	Missense_Mutation	SNP	C	C	A	rs201812895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36148567C>A	ENST00000377960.4	+	3	180	c.146C>A	c.(145-147)aCg>aAg	p.T49K	GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	49	SCP.				positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CTGGCCAGCACGAGGATCCTC	0.592																																						ENST00000377960.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						c.(145-147)aCg>aAg		GLI pathogenesis-related 2							99.0	83.0	88.0					9																	36148567		2203	4300	6503	SO:0001583	missense	152007					extracellular region|Golgi membrane		g.chr9:36148567C>A	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.146C>A	9.37:g.36148567C>A	ENSP00000367196:p.Thr49Lys					GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	p.T49K	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN			3	180	+			49					Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Missense_Mutation	SNP	ENST00000377960.4	37	c.146C>A	CCDS6598.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921361	0.52653	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.40476	1.03;2.56	5.61	5.61	0.85477	CAP domain (3);	0.196919	0.52532	D	0.000064	T	0.46034	0.1372	L	0.39898	1.24	0.80722	D	1	D;D;D;B	0.76494	0.999;0.999;0.989;0.035	P;P;P;B	0.58266	0.836;0.817;0.534;0.022	T	0.22034	-1.0228	10	0.05620	T	0.96	-10.0846	15.4923	0.75619	0.0:1.0:0.0:0.0	.	49;246;49;49	B4DQC5;D3DRP5;Q9H4G4;Q5VZR0	.;.;GAPR1_HUMAN;.	K	49	ENSP00000367195:T49K;ENSP00000367196:T49K	ENSP00000367195:T49K	T	+	2	0	GLIPR2	36138567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.260000	0.65490	2.793000	0.96121	0.655000	0.94253	ACG		0.592	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		17	166	1	0	9.7654e-05	1	9.93505e-05	17	166				
SST	6750	broad.mit.edu	37	3	187387999	187387999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187387999C>T	ENST00000287641.3	-	1	188	c.81G>A	c.(79-81)tcG>tcA	p.S27S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	27					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GTCTGGGGTCCGAGGGAGCGC	0.682																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(79-81)tcG>tcA		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						22.0	21.0	21.0					3																	187387999		2199	4298	6497	SO:0001819	synonymous_variant	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187387999C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.81G>A	3.37:g.187387999C>T							p.S27S	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	1	188	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		27					B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	c.81G>A	CCDS3288.1																																																																																				0.682	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		12	45	0	0	0	1	0	12	45				
DENND1C	79958	broad.mit.edu	37	19	6479048	6479048	+	Missense_Mutation	SNP	C	C	T	rs375158491		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6479048C>T	ENST00000381480.2	-	5	308	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	66	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V66L(1)|p.V92L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAATGCTGCACGGCGGGGCTG	0.632																																						ENST00000381480.2																			2	Substitution - Missense(2)	p.V66L(1)|p.V92L(1)	lung(2)	endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(196-198)Gtg>Atg		DENN/MADD domain containing 1C		C	MET/VAL	1,3867		0,1,1933	49.0	60.0	57.0		196	5.2	0.0	19		57	1,8261		0,1,4130	no	missense	DENND1C	NM_024898.2	21	0,2,6063	TT,TC,CC		0.0121,0.0259,0.0165	probably-damaging	66/802	6479048	2,12128	1934	4131	6065	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6479048C>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.196G>A	19.37:g.6479048C>T	ENSP00000370889:p.Val66Met					DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M	p.V66M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			5	308	-			66			UDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.196G>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698972	0.68501	2.59E-4	1.21E-4	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.42513	0.97;0.97	5.24	5.24	0.73138	uDENN (3);	0.704654	0.13525	N	0.381405	T	0.66713	0.2817	M	0.80422	2.495	0.21697	N	0.999583	D	0.76494	0.999	D	0.67725	0.953	T	0.60244	-0.7301	10	0.52906	T	0.07	-14.6092	16.2903	0.82747	0.0:1.0:0.0:0.0	.	66	Q8IV53	DEN1C_HUMAN	M	66;22	ENSP00000370889:V66M;ENSP00000437805:V22M	ENSP00000370889:V66M	V	-	1	0	DENND1C	6430048	0.894000	0.30519	0.025000	0.17156	0.826000	0.46750	5.660000	0.68018	2.459000	0.83118	0.313000	0.20887	GTG		0.632	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		101	447	0	0	0	1	0	101	447				
PITPNM3	83394	broad.mit.edu	37	17	6364709	6364709	+	Missense_Mutation	SNP	C	C	T	rs148826628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6364709C>T	ENST00000262483.8	-	18	2561	c.2474G>A	c.(2473-2475)cGc>cAc	p.R825H	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R789H|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	825					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CATGAGGTTGCGCAGGAAGAT	0.642																																						ENST00000262483.8																			0											c.(2473-2475)cGc>cAc				C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92.0	81.0	85.0		2366,2474	4.6	1.0	17	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	789/939,825/975	6364709	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr17:6364709C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2474G>A	17.37:g.6364709C>T	ENSP00000262483:p.Arg825His					ACKR6_ENST00000421306.3_Missense_Mutation_p.R789H|ACKR6_ENST00000576664.1_5'UTR	p.R825H	NM_031220.3	NP_112497.2					18	2561	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2474G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802640	0.70682	0.0	1.16E-4	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.76709	-1.04;-1.04	4.61	4.61	0.57282	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	L	0.50333	1.59	0.46356	D	0.999002	B;D	0.71674	0.33;0.998	B;D	0.63033	0.143;0.91	D	0.85338	0.1094	10	0.72032	D	0.01	.	15.3014	0.73955	0.0:1.0:0.0:0.0	.	789;825	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	825;789	ENSP00000262483:R825H;ENSP00000407882:R789H	ENSP00000262483:R825H	R	-	2	0	PITPNM3	6305433	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	1.527000	0.35975	2.293000	0.77203	0.462000	0.41574	CGC		0.642	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		97	378	0	0	0	1	0	97	378				
DDX50	79009	broad.mit.edu	37	10	70673194	70673194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673194C>T	ENST00000373585.3	+	6	912	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	269	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AACACCTGGTCGTATCAAAGA	0.388																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(805-807)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							144.0	135.0	138.0					10																	70673194		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673194C>T	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.805C>T	10.37:g.70673194C>T	ENSP00000362687:p.Arg269Cys						p.R269C	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			6	912	+			269			Helicase ATP-binding.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.805C>T	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076777	0.76415	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20200	2.09	5.09	5.09	0.68999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.203799	0.53938	D	0.000052	T	0.60728	0.2291	H	0.97077	3.935	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	T	0.74368	-0.3688	10	0.87932	D	0	-7.362	14.4631	0.67465	0.0:0.853:0.147:0.0	.	269;269	Q9BQ39;B4DED6	DDX50_HUMAN;.	C	269	ENSP00000362687:R269C	ENSP00000362687:R269C	R	+	1	0	DDX50	70343200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.446000	0.60014	2.530000	0.85305	0.462000	0.41574	CGT		0.388	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		79	364	0	0	0	1	0	79	364				
SMG6	23293	broad.mit.edu	37	17	2202763	2202763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202763C>T	ENST00000263073.6	-	2	1334	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	SMG6_ENST00000544865.1_Silent_p.A397A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	428	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCAAAGGCGCGGACTCTG	0.547																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1189-1191)gcG>gcA		SMG6 nonsense mediated mRNA decay factor							81.0	91.0	87.0					17																	2202763		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202763C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1284G>A	17.37:g.2202763C>T						SMG6_ENST00000263073.5_Silent_p.A428A	p.A397A			Q86US8	EST1A_HUMAN			2	1701	-			428			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.1191G>A	CCDS11016.1																																																																																				0.547	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			113	572	0	0	0	1	0	113	572				
LYG1	129530	broad.mit.edu	37	2	99909057	99909057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909057G>A	ENST00000409448.1	-	5	406	c.90C>T	c.(88-90)agC>agT	p.S30S	LYG1_ENST00000308528.4_Silent_p.S30S			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	30					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGTGTCCAGGCTTTGGATGT	0.493																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(88-90)agC>agT		lysozyme G-like 1							176.0	162.0	167.0					2																	99909057		2203	4300	6503	SO:0001819	synonymous_variant	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99909057G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.90C>T	2.37:g.99909057G>A						LYG1_ENST00000308528.4_Silent_p.S30S	p.S30S			Q8N1E2	LYG1_HUMAN			5	406	-			30					Q53RV9	Silent	SNP	ENST00000409448.1	37	c.90C>T	CCDS2043.1																																																																																				0.493	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		125	320	0	0	0	1	0	125	320				
SNX13	23161	broad.mit.edu	37	7	17874457	17874457	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17874457A>G	ENST00000409389.1	-	14	1563	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	SNX13_ENST00000428135.3_Missense_Mutation_p.L464S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	464	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTGCTACTAAATAGTCATC	0.299																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1390-1392)tTa>tCa		sorting nexin 13							52.0	51.0	51.0					7																	17874457		1807	4054	5861	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17874457A>G	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1391T>C	7.37:g.17874457A>G	ENSP00000386705:p.Leu464Ser					SNX13_ENST00000428135.3_Missense_Mutation_p.L464S	p.L464S			Q9Y5W8	SNX13_HUMAN			14	1563	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		464			RGS.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.1391T>C		.	.	.	.	.	.	.	.	.	.	A	13.31	2.200319	0.38905	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.02446	4.29;4.29	5.04	5.04	0.67666	.	0.143577	0.49305	D	0.000153	T	0.02767	0.0083	N	0.11427	0.14	0.80722	D	1	B;P;P	0.41498	0.247;0.752;0.576	B;B;B	0.42625	0.098;0.393;0.119	T	0.65672	-0.6111	10	0.42905	T	0.14	-7.5475	15.076	0.72077	1.0:0.0:0.0:0.0	.	261;464;464	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	S	464;464;512	ENSP00000386705:L464S;ENSP00000398789:L464S	ENSP00000242044:L512S	L	-	2	0	SNX13	17840982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.584000	0.60971	2.026000	0.59711	0.402000	0.26972	TTA		0.299	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		15	130	0	0	0	1	0	15	130				
GLI2	2736	broad.mit.edu	37	2	121743937	121743937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121743937C>T	ENST00000452319.1	+	13	2100	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	GLI2_ENST00000361492.4_Silent_p.G680G|GLI2_ENST00000314490.11_Silent_p.G352G|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGACAGTGGCGTGGAGATGC	0.711																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2038-2040)ggC>ggT		GLI family zinc finger 2							34.0	42.0	39.0					2																	121743937		2203	4299	6502	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121743937C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2040C>T	2.37:g.121743937C>T						GLI2_ENST00000314490.11_Silent_p.G352G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.G680G	p.G680G			P10070	GLI2_HUMAN			13	2100	+	Renal(3;0.0496)	Prostate(154;0.0623)	680						Silent	SNP	ENST00000452319.1	37	c.2040C>T	CCDS33283.1																																																																																				0.711	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		19	344	0	0	0	1	0	19	344				
ACTN3	89	broad.mit.edu	37	11	66327730	66327730	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66327730C>T	ENST00000504911.1	-	0	125				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CTGGATGGTGCCGTGGAGGAC	0.627																																						ENST00000504911.1																			0																				35.0	42.0	40.0					11																	66327730		2163	4270	6433			0							g.chr11:66327730C>T																													11.37:g.66327730C>T						ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA								0	125	-									RNA	SNP	ENST00000504911.1	37																																																																																						0.627	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			20	87	0	0	0	1	0	20	87				
PKHD1	5314	broad.mit.edu	37	6	51900516	51900516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51900516C>A	ENST00000371117.3	-	28	3376	c.3101G>T	c.(3100-3102)gGg>gTg	p.G1034V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1034	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCAGAGCCCTCCTGTAAC	0.398																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3100-3102)gGg>gTg		polycystic kidney and hepatic disease 1 (autosomal recessive)							72.0	73.0	72.0					6																	51900516		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900516C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3101G>T	6.37:g.51900516C>A	ENSP00000360158:p.Gly1034Val					PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	p.G1034V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			28	3376	-	Lung NSC(77;0.0605)		1034			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3101G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173670	0.78452	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-2.14;-2.14	5.57	5.57	0.84162	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.157646	0.44483	D	0.000441	D	0.91392	0.7284	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91938	0.5560	10	0.72032	D	0.01	.	16.6945	0.85332	0.0:1.0:0.0:0.0	.	1034;1034	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1034	ENSP00000360158:G1034V;ENSP00000341097:G1034V	ENSP00000341097:G1034V	G	-	2	0	PKHD1	52008475	0.998000	0.40836	0.976000	0.42696	0.997000	0.91878	4.845000	0.62853	2.631000	0.89168	0.650000	0.86243	GGG		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		57	230	1	0	3.76997e-23	1	4.28119e-23	57	230				
SNX17	9784	broad.mit.edu	37	2	27598482	27598482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27598482G>A	ENST00000233575.2	+	10	1106	c.884G>A	c.(883-885)aGt>aAt	p.S295N	SNX17_ENST00000537606.1_Missense_Mutation_p.S270N|SNX17_ENST00000542478.1_Missense_Mutation_p.S81N|SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|ZNF513_ENST00000491924.1_5'Flank	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	295	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCAACAGTGAGCTCAGC	0.632																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(883-885)aGt>aAt		sorting nexin 17							74.0	72.0	73.0					2																	27598482		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27598482G>A	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.884G>A	2.37:g.27598482G>A	ENSP00000233575:p.Ser295Asn					SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|SNX17_ENST00000537606.1_Missense_Mutation_p.S270N|SNX17_ENST00000542478.1_Missense_Mutation_p.S81N	p.S295N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			10	1106	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		295					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.884G>A	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307244	0.23821	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.28069	2.05;1.69;1.63;1.69	5.84	4.91	0.64330	.	0.077057	0.85682	D	0.000000	T	0.04452	0.0122	N	0.00062	-2.325	0.45390	D	0.998378	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43669	-0.9377	10	0.05436	T	0.98	-6.7693	5.6777	0.17757	0.1522:0.1736:0.6742:0.0	.	270;283;275;295	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	N	295;81;270;81	ENSP00000233575:S295N;ENSP00000441779:S81N;ENSP00000439208:S270N;ENSP00000442567:S81N	ENSP00000233575:S295N	S	+	2	0	SNX17	27451986	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.715000	0.61909	2.768000	0.95171	0.561000	0.74099	AGT		0.632	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		112	582	0	0	0	1	0	112	582				
WDR33	55339	broad.mit.edu	37	2	128495607	128495607	+	Intron	SNP	C	C	T	rs370534850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128495607C>T	ENST00000322313.4	-	8	883				WDR33_ENST00000393006.1_Missense_Mutation_p.R249H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33						mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAAGTAACAACGGCAGTGATG	0.418																																						ENST00000393006.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(745-747)cGt>cAt		WD repeat domain 33		C	HIS/ARG,	1,3803		0,1,1901	97.0	90.0	92.0		746,	-3.1	0.0	2		92	0,8240		0,0,4120	no	missense,intron	WDR33	NM_001006623.2,NM_018383.4	29,	0,1,6021	TT,TC,CC		0.0,0.0263,0.0083	,	249/258,	128495607	1,12043	1902	4120	6022	SO:0001627	intron_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128495607C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.725-11256G>A	2.37:g.128495607C>T						WDR33_ENST00000322313.4_Intron	p.R249H	NM_001006623.2	NP_001006624.1	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	8	928	-	Colorectal(110;0.1)		0					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.746G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	5.534	0.283451	0.10458	2.63E-4	0.0	ENSG00000136709	ENST00000393006	T	0.72942	-0.7	2.66	-3.13	0.05266	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38693	-0.9649	8	0.52906	T	0.07	.	4.0484	0.09783	0.0:0.4211:0.217:0.3619	.	249	Q6NUQ0	.	H	249	ENSP00000376730:R249H	ENSP00000376730:R249H	R	-	2	0	WDR33	128212077	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.140000	0.10342	-0.657000	0.05373	-0.351000	0.07748	CGT		0.418	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		54	181	0	0	0	1	0	54	181				
GLI3	2737	broad.mit.edu	37	7	42005127	42005127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005127G>A	ENST00000395925.3	-	15	3628	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1182					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1182W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACAGCGGGCCGCGGCCCACAC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			1	Substitution - Missense(1)	p.R1182W(1)	large_intestine(1)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3544-3546)Cgg>Tgg		GLI family zinc finger 3							71.0	86.0	81.0					7																	42005127		2203	4297	6500	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005127G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3544C>T	7.37:g.42005127G>A	ENSP00000379258:p.Arg1182Trp					GLI3_ENST00000479210.1_5'UTR	p.R1182W	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3628	-			1182					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3544C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555839	0.27827	.	.	ENSG00000106571	ENST00000395925	T	0.13657	2.57	5.67	1.61	0.23674	.	0.106556	0.64402	D	0.000002	T	0.20941	0.0504	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.00230	-1.1897	10	0.37606	T	0.19	.	15.1565	0.72746	0.0:0.0:0.5137:0.4863	.	1182	P10071	GLI3_HUMAN	W	1182	ENSP00000379258:R1182W	ENSP00000379258:R1182W	R	-	1	2	GLI3	41971652	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	3.290000	0.51755	0.008000	0.14787	-0.311000	0.09066	CGG		0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		163	814	0	0	0	1	0	163	814				
LDLRAP1	26119	broad.mit.edu	37	1	25880492	25880492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25880492G>A	ENST00000374338.4	+	2	287	c.168G>A	c.(166-168)acG>acA	p.T56T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	56	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCATGACGCTAGTGGAGC	0.637																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(166-168)acG>acA		low density lipoprotein receptor adaptor protein 1							76.0	64.0	68.0					1																	25880492		2203	4300	6503	SO:0001819	synonymous_variant	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25880492G>A	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.168G>A	1.37:g.25880492G>A						LDLRAP1_ENST00000488127.1_3'UTR	p.T56T	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	2	287	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	56			PID.		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Silent	SNP	ENST00000374338.4	37	c.168G>A	CCDS30639.1																																																																																				0.637	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		32	267	0	0	0	1	0	32	267				
MCCC1	56922	broad.mit.edu	37	3	182755097	182755097	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182755097C>A	ENST00000265594.4	-	13	1649	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N|MCCC1_ENST00000492597.1_Missense_Mutation_p.K392N	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	501					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGCTGCAGCCTTCCGACTGA	0.512																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(1174-1176)aaG>aaT		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						127.0	111.0	116.0					3																	182755097		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182755097C>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1503G>T	3.37:g.182755097C>A	ENSP00000265594:p.Lys501Asn					MCCC1_ENST00000265594.4_Missense_Mutation_p.K501N|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N	p.K392N			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		12	1878	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		501			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.1176G>T	CCDS3241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.767|4.767	0.142627|0.142627	0.09083|0.09083	.|.	.|.	ENSG00000078070|ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176|ENST00000448585	D;D;D;D|.	0.95622|.	-3.76;-3.7;-3.58;-3.52|.	5.93|5.93	0.553|0.553	0.17235|0.17235	.|.	0.499217|.	0.25487|.	N|.	0.030329|.	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30584|.	0.259;0.164;0.286|.	B;B;B|.	0.27608|.	0.081;0.052;0.067|.	T|T	0.36744|0.36744	-0.9735|-0.9735	10|6	0.22109|0.51188	T|T	0.4|0.08	.|.	1.9389|1.9389	0.03342|0.03342	0.1317:0.4086:0.1216:0.3381|0.1317:0.4086:0.1216:0.3381	.|.	454;392;501|.	E9PG35;E9PHF7;Q96RQ3|.	.;.;MCCA_HUMAN|.	N|M	501;392;351;366;454|454	ENSP00000265594:K501N;ENSP00000419898:K392N;ENSP00000441253:K366N;ENSP00000420433:K454N|.	ENSP00000265594:K501N|ENSP00000407708:R454M	K|R	-|-	3|2	2|0	MCCC1|MCCC1	184237791|184237791	0.001000|0.001000	0.12720|0.12720	0.209000|0.209000	0.23619|0.23619	0.199000|0.199000	0.23934|0.23934	0.283000|0.283000	0.18846|0.18846	0.398000|0.398000	0.25338|0.25338	0.561000|0.561000	0.74099|0.74099	AAG|AGG		0.512	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		85	242	1	0	1.4051e-37	1	1.68838e-37	85	242				
EFCAB6	64800	broad.mit.edu	37	22	44028018	44028018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44028018C>A	ENST00000262726.7	-	19	2452	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	733					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAGGGAAAAGCTTCAGGCATT	0.562																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2197-2199)aaG>aaT		EF-hand calcium binding domain 6							114.0	115.0	114.0					22																	44028018		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44028018C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2199G>T	22.37:g.44028018C>A	ENSP00000262726:p.Lys733Asn					EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	p.K733N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			19	2452	-		Ovarian(80;0.0247)|all_neural(38;0.025)	733					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2199G>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457970	0.26161	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15139	2.45;2.45	4.61	-7.35	0.01422	EF-hand-like domain (1);	0.966024	0.08569	N	0.926282	T	0.16257	0.0391	L	0.36672	1.1	0.09310	N	1	P;P	0.48016	0.904;0.698	P;B	0.48227	0.571;0.201	T	0.06789	-1.0807	10	0.18276	T	0.48	-4.4141	15.3777	0.74625	0.0:0.7746:0.0:0.2254	.	581;733	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	N	581;733	ENSP00000379533:K581N;ENSP00000262726:K733N	ENSP00000262726:K733N	K	-	3	2	EFCAB6	42359351	0.000000	0.05858	0.000000	0.03702	0.553000	0.35397	-1.587000	0.02108	-1.767000	0.01300	-0.302000	0.09304	AAG		0.562	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		120	555	1	0	3.04319e-57	1	3.81129e-57	120	555				
RNF31	55072	broad.mit.edu	37	14	24617572	24617572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24617572G>A	ENST00000324103.6	+	3	765	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000560410.1_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000216802.5_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	149	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGTTGCTACAGTCACACTGGA	0.557																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(445-447)Gtc>Atc		ring finger protein 31							62.0	66.0	64.0					14																	24617572		2100	4215	6315	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24617572G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.445G>A	14.37:g.24617572G>A	ENSP00000315112:p.Val149Ile					RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR	p.V149I	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	3	765	+			149			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.445G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220579	0.79464	.	.	ENSG00000092098	ENST00000324103	T	0.55588	0.51	5.31	5.31	0.75309	PUB domain (1);	0.000000	0.64402	D	0.000001	T	0.49474	0.1559	L	0.50333	1.59	0.80722	D	1	B	0.24186	0.099	B	0.31614	0.133	T	0.47812	-0.9088	10	0.49607	T	0.09	-20.5992	11.9072	0.52719	0.0827:0.0:0.9173:0.0	.	149	Q96EP0	RNF31_HUMAN	I	149	ENSP00000315112:V149I	ENSP00000315112:V149I	V	+	1	0	RNF31	23687412	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	6.548000	0.73896	2.779000	0.95612	0.655000	0.94253	GTC		0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		32	130	0	0	0	1	0	32	130				
SIPA1L3	23094	broad.mit.edu	37	19	38600883	38600883	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38600883A>G	ENST00000222345.6	+	8	2659	c.2150A>G	c.(2149-2151)cAc>cGc	p.H717R	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	717	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAAGAGGCACATAGGAAAT	0.597																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2149-2151)cAc>cGc		signal-induced proliferation-associated 1 like 3							187.0	146.0	160.0					19																	38600883		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38600883A>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2150A>G	19.37:g.38600883A>G	ENSP00000222345:p.His717Arg						p.H717R	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		8	2659	+			717			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2150A>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329061	0.81690	.	.	ENSG00000105738	ENST00000222345	D	0.97138	-4.26	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.98542	4.26	0.58432	D	0.999996	P	0.52061	0.95	D	0.71870	0.975	D	0.98988	1.0807	10	0.87932	D	0	-37.7634	14.0811	0.64922	1.0:0.0:0.0:0.0	.	717	O60292	SI1L3_HUMAN	R	717	ENSP00000222345:H717R	ENSP00000222345:H717R	H	+	2	0	SIPA1L3	43292723	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.339000	0.96797	1.991000	0.58162	0.454000	0.30748	CAC		0.597	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	624	0	0	0	1	0	26	624				
ZNF576	79177	broad.mit.edu	37	19	44101344	44101344	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44101344C>T	ENST00000336564.4	+	2	238	c.84C>T	c.(82-84)atC>atT	p.I28I	IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000533118.1_Splice_Site_p.I28I|ZNF576_ENST00000525771.1_Splice_Site_p.I28I|ZNF576_ENST00000528387.1_Splice_Site_p.I28I|SRRM5_ENST00000526798.1_5'UTR|ZNF576_ENST00000529930.1_Splice_Site_p.I28I|IRGQ_ENST00000602269.1_5'Flank|SRRM5_ENST00000607544.1_5'UTR|ZNF576_ENST00000391965.2_Splice_Site_p.I28I	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	28					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GAGGCAACATCTGTGAGTACA	0.577																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.e2+1		zinc finger protein 576							89.0	81.0	83.0					19																	44101344		2203	4300	6503	SO:0001630	splice_region_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44101344C>T	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.85+1C>T	19.37:g.44101344C>T						SRRM5_ENST00000526798.1_5'UTR|ZNF576_ENST00000525771.1_Splice_Site_p.I28_splice|ZNF576_ENST00000391965.2_Splice_Site_p.I28_splice|ZNF576_ENST00000529930.1_Splice_Site_p.I28_splice|ZNF576_ENST00000533118.1_Splice_Site_p.I28_splice|ZNF576_ENST00000528387.1_Splice_Site_p.I28_splice|SRRM5_ENST00000607544.1_5'UTR	p.I28_splice	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			2	238	+		Prostate(69;0.0199)	28					Q9BU03	Splice_Site	SNP	ENST00000336564.4	37	c.85_splice	CCDS12625.1																																																																																				0.577	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327	Silent	67	204	0	0	0	1	0	67	204				
CALCB	797	broad.mit.edu	37	11	15096342	15096342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15096342G>A	ENST00000533448.1	+	2	189	c.78G>A	c.(76-78)gcG>gcA	p.A26A	CALCB_ENST00000324229.6_Silent_p.A26A|CALCB_ENST00000523376.1_Silent_p.A37A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	26					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TCCAGGCGGCGCCATTCAGGT	0.622											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523376.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(109-111)gcG>gcA		calcitonin-related polypeptide beta							50.0	51.0	51.0					11																	15096342		2200	4294	6494	SO:0001819	synonymous_variant	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15096342G>A		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.78G>A	11.37:g.15096342G>A			OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	700	CALCB_ENST00000533448.1_Silent_p.A26A|CALCB_ENST00000324229.6_Silent_p.A26A	p.A37A			P10092	CALCB_HUMAN			7	1373	+			26					A8K573|D3DQX4|Q569I0|Q9UCN9	Silent	SNP	ENST00000533448.1	37	c.111G>A	CCDS7820.1																																																																																				0.622	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		49	232	0	0	0	1	0	49	232				
TRIM16	10626	broad.mit.edu	37	17	15532139	15532139	+	Silent	SNP	G	G	A	rs368962289	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15532139G>A	ENST00000578237.1	-	11	2340	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.L365L|TRIM16_ENST00000577886.1_Silent_p.L279L|TRIM16_ENST00000336708.7_Silent_p.L495L|RP11-385D13.1_ENST00000455584.2_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	495	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TATAGACCCCGAGCCTCCGGA	0.522													G|||	12	0.00239617	0.0	0.0	5008	,	,		18290	0.0119		0.0	False		,,,				2504	0.0					ENST00000578237.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19						c.(1483-1485)ctC>ctT		tripartite motif containing 16							69.0	71.0	70.0					17																	15532139		2203	4300	6503	SO:0001819	synonymous_variant	10626							g.chr17:15532139G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1485C>T	17.37:g.15532139G>A						TRIM16_ENST00000336708.7_Silent_p.L495L|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Silent_p.L279L|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.L365L	p.L495L						UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	11	2340	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	c.1485C>T	CCDS11171.1																																																																																				0.522	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		27	435	0	0	0	1	0	27	435				
SCN10A	6336	broad.mit.edu	37	3	38768406	38768406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768406C>T	ENST00000449082.2	-	16	2777	c.2778G>A	c.(2776-2778)caG>caA	p.Q926Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	926					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGCAAAGAGCCTGTTTGGTAC	0.602																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2776-2778)caG>caA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						114.0	112.0	112.0					3																	38768406		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768406C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2778G>A	3.37:g.38768406C>T							p.Q926Q	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	2777	-			926					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2778G>A	CCDS33736.1																																																																																				0.602	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		23	649	0	0	0	1	0	23	649				
EPPK1	83481	broad.mit.edu	37	8	144940360	144940360	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940360G>A	ENST00000525985.1	-	2	7133	c.7062C>T	c.(7060-7062)agC>agT	p.S2354S				P58107	EPIPL_HUMAN	epiplakin 1	2354						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCACGCGGTGGCTGTGCACGG	0.687																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7060-7062)agC>agT		epiplakin 1							192.0	186.0	188.0					8																	144940360		2163	4228	6391	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940360G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7062C>T	8.37:g.144940360G>A							p.S2354S			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7133	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2354					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7062C>T																																																																																					0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		62	2690	0	0	0	1	0	62	2690				
MYO7B	4648	broad.mit.edu	37	2	128389839	128389839	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128389839C>A	ENST00000409816.2	+	37	5222	c.5190C>A	c.(5188-5190)ggC>ggA	p.G1730G	MYO7B_ENST00000389524.4_Silent_p.G1731G|MYO7B_ENST00000428314.1_Silent_p.G1730G|MYO7B_ENST00000409090.1_Silent_p.G583G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1730	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGAGCGGGGCTGGCAGCTGC	0.672																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5191-5193)ggC>ggA		myosin VIIB							13.0	17.0	16.0					2																	128389839		1894	4101	5995	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128389839C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5190C>A	2.37:g.128389839C>A						MYO7B_ENST00000428314.1_Silent_p.G1730G|MYO7B_ENST00000409816.2_Silent_p.G1730G|MYO7B_ENST00000409090.1_Silent_p.G583G	p.G1731G			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	38	5246	+	Colorectal(110;0.1)		1730			MyTH4 2.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.5193C>A	CCDS46405.1																																																																																				0.672	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	220	1	0	0.000274275	1	0.000278163	8	220				
RNF19B	127544	broad.mit.edu	37	1	33409668	33409668	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33409668C>T	ENST00000373456.7	-	6	1356	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	RNF19B_ENST00000235150.4_Missense_Mutation_p.G452R|RNF19B_ENST00000356990.5_Missense_Mutation_p.G452R	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	453					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTCCTTTTCCGTTGGCTGTG	0.413																																						ENST00000356990.5																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1354-1356)Gga>Aga		ring finger protein 19B							98.0	88.0	91.0					1																	33409668		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33409668C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1357G>A	1.37:g.33409668C>T	ENSP00000362555:p.Gly453Arg					RNF19B_ENST00000373456.7_Missense_Mutation_p.G453R|RNF19B_ENST00000235150.4_Missense_Mutation_p.G452R	p.G452R	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			6	1353	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	453					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1354G>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009920	0.93346	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.34472	1.36;1.43;1.36	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	M	0.65975	2.015	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.995;0.999;0.962	T	0.60697	-0.7212	10	0.56958	D	0.05	.	19.7769	0.96398	0.0:1.0:0.0:0.0	.	452;453;452	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	R	453;452;452;351	ENSP00000362555:G453R;ENSP00000349482:G452R;ENSP00000235150:G452R	ENSP00000235150:G452R	G	-	1	0	RNF19B	33182255	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	GGA		0.413	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		6	239	0	0	0	1	0	6	239				
MEN1	4221	broad.mit.edu	37	11	64575388	64575388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64575388G>A	ENST00000337652.1	-	3	1147	c.644C>T	c.(643-645)aCa>aTa	p.T215I	MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	215					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.T210fs*13(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGCATTGACTGTCTGGCCCCT	0.597			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		1	Deletion - Frameshift(1)	p.T210fs*13(1)	parathyroid(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(643-645)aCa>aTa		multiple endocrine neoplasia I							80.0	61.0	67.0					11																	64575388		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575388G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.644C>T	11.37:g.64575388G>A	ENSP00000337088:p.Thr215Ile					MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I	p.T215I	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1147	-			215					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.644C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483385	0.63962	.	.	ENSG00000133895	ENST00000377316;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D	0.99422	-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88	4.8	4.8	0.61643	.	0.128336	0.51477	D	0.000092	D	0.98432	0.9478	L	0.40543	1.245	0.51233	D	0.999918	P;P	0.37525	0.544;0.598	B;B	0.42361	0.266;0.385	D	0.99908	1.1187	10	0.66056	D	0.02	-3.0626	15.7433	0.77920	0.0:0.0:1.0:0.0	.	210;215	O00255-2;O00255	.;MEN1_HUMAN	I	210;210;210;210;215;215;215;215;215;210;210;210	ENSP00000366533:T210I;ENSP00000366543:T210I;ENSP00000308975:T210I;ENSP00000323747:T210I;ENSP00000337088:T215I;ENSP00000377901:T215I;ENSP00000377899:T215I;ENSP00000396940:T215I;ENSP00000366530:T215I;ENSP00000413944:T210I;ENSP00000394933:T210I;ENSP00000411218:T210I	ENSP00000308975:T210I	T	-	2	0	MEN1	64331964	1.000000	0.71417	0.946000	0.38457	0.729000	0.41735	6.808000	0.75206	2.386000	0.81285	0.462000	0.41574	ACA		0.597	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			9	273	0	0	0	1	0	9	273				
LOC150776	150776	broad.mit.edu	37	2	132273214	132273214	+	RNA	SNP	C	C	T	rs555163814	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132273214C>T	ENST00000438378.2	+	0	1274					NR_026922.1																						GTTGGTGGTGCGCCTGCTGCT	0.657													.|||	2	0.000399361	0.0	0.0	5008	,	,		18959	0.002		0.0	False		,,,				2504	0.0					ENST00000438378.2																			0																																																			0							g.chr2:132273214C>T																													2.37:g.132273214C>T								NR_026922.1						0	1274	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.657	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			4	89	0	0	0	1	0	4	89				
PLEKHM3	389072	broad.mit.edu	37	2	208725853	208725853	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208725853G>T	ENST00000427836.2	-	7	2573	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695H	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	695					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTCAAAAGGGTAGAGGAT	0.398																																						ENST00000427836.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2083-2085)cCt>cAt		pleckstrin homology domain containing, family M, member 3							138.0	130.0	132.0					2																	208725853		1886	4106	5992	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208725853G>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.2084C>A	2.37:g.208725853G>T	ENSP00000417003:p.Pro695His					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695H	p.P695H	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN			7	2573	-			695					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.2084C>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549105	0.86127	.	.	ENSG00000178385	ENST00000427836;ENST00000389247	D;D	0.87412	-2.23;-2.25	5.06	5.06	0.68205	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95942	0.8947	10	0.87932	D	0	.	18.9822	0.92758	0.0:0.0:1.0:0.0	.	695	Q6ZWE6	PKHM3_HUMAN	H	695	ENSP00000417003:P695H;ENSP00000373899:P695H	ENSP00000373899:P695H	P	-	2	0	PLEKHM3	208434098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.597000	0.98273	2.763000	0.94921	0.655000	0.94253	CCT		0.398	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		11	621	1	0	9.31168e-06	1	9.55451e-06	11	621				
ABHD15	116236	broad.mit.edu	37	17	27889827	27889827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27889827G>A	ENST00000307201.4	-	2	1329	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	387						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTCCGTGGCGACTGAGCAGG	0.602																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1159-1161)Cgc>Tgc		abhydrolase domain containing 15							62.0	64.0	63.0					17																	27889827		2203	4300	6503	SO:0001583	missense	116236					extracellular region	carboxylesterase activity	g.chr17:27889827G>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1159C>T	17.37:g.27889827G>A	ENSP00000302657:p.Arg387Cys					RP11-68I3.2_ENST00000581474.1_RNA	p.R387C	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			2	1329	-			387					Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	c.1159C>T	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174694	0.57692	.	.	ENSG00000168792	ENST00000307201	T	0.67698	-0.28	5.84	3.81	0.43845	.	0.930570	0.09131	N	0.844335	T	0.66626	0.2808	N	0.22421	0.69	0.09310	N	1	D	0.57571	0.98	P	0.53722	0.733	T	0.58994	-0.7537	10	0.51188	T	0.08	-17.9113	14.2909	0.66278	0.0:0.0:0.7297:0.2703	.	387	Q6UXT9	ABH15_HUMAN	C	387	ENSP00000302657:R387C	ENSP00000302657:R387C	R	-	1	0	ABHD15	24913953	0.052000	0.20516	0.641000	0.29422	0.954000	0.61252	2.244000	0.43124	0.789000	0.33779	-0.182000	0.12963	CGC		0.602	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		49	331	0	0	0	1	0	49	331				
NTN3	4917	broad.mit.edu	37	16	2523431	2523431	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2523431C>A	ENST00000293973.1	+	5	1523	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	440					axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TCTACCCAGACTGTGACTCGC	0.622																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.e5-1		netrin 3							112.0	117.0	115.0					16																	2523431		2198	4300	6498	SO:0001630	splice_region_variant	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2523431C>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.1319-1C>A	16.37:g.2523431C>A							p.D440_splice	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			5	1523	+			440						Splice_Site	SNP	ENST00000293973.1	37	c.1318_splice	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	1.358	-0.589449	0.03799	.	.	ENSG00000162068	ENST00000293973	T	0.30182	1.54	3.67	1.15	0.20763	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.126926	0.50627	D	0.000104	T	0.13500	0.0327	N	0.19112	0.55	0.52099	D	0.999941	B	0.20780	0.048	B	0.15484	0.013	T	0.19910	-1.0291	10	0.05436	T	0.98	.	7.6096	0.28122	0.0:0.6439:0.0:0.3561	.	440	O00634	NET3_HUMAN	E	440	ENSP00000293973:D440E	ENSP00000293973:D440E	D	+	3	2	NTN3	2463432	0.468000	0.25839	0.953000	0.39169	0.345000	0.29048	0.001000	0.13038	0.547000	0.28938	0.306000	0.20318	GAC		0.622	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181	Missense_Mutation	150	729	1	0	2.98797e-67	1	3.78391e-67	150	729				
KCNJ5	3762	broad.mit.edu	37	11	128781835	128781835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128781835G>A	ENST00000338350.4	+	3	1019	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_ENST00000529694.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	223					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCGGGTGGGCGACCTCCGCAA	0.597																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(667-669)Gac>Aac		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						94.0	94.0	94.0					11																	128781835		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781835G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.667G>A	11.37:g.128781835G>A	ENSP00000339960:p.Asp223Asn					KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000338350.4_Missense_Mutation_p.D223N	p.D223N	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1043	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	223					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.667G>A	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617202	0.46736	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	L	0.28400	0.85	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.09843	T	0.71	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	223	P48544	IRK5_HUMAN	N	223	ENSP00000433295:D223N;ENSP00000339960:D223N;ENSP00000434266:D223N	ENSP00000339960:D223N	D	+	1	0	KCNJ5	128287045	1.000000	0.71417	0.951000	0.38953	0.824000	0.46624	8.062000	0.89475	2.556000	0.86216	0.561000	0.74099	GAC		0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		78	424	0	0	0	1	0	78	424				
ZDHHC1	29800	broad.mit.edu	37	16	67432548	67432548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432548C>T	ENST00000348579.2	-	7	1083	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	248					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ATGAGCAGGGCGGCCAGGGCC	0.632																																						ENST00000348579.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(742-744)Gcc>Acc		zinc finger, DHHC-type containing 1							31.0	37.0	35.0					16																	67432548		2197	4300	6497	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67432548C>T	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.742G>A	16.37:g.67432548C>T	ENSP00000340299:p.Ala248Thr						p.A248T	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	7	1083	-		Ovarian(137;0.223)	248					O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.742G>A	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822471	0.90873	.	.	ENSG00000159714	ENST00000348579	T	0.25085	1.82	5.41	4.46	0.54185	.	0.417736	0.24318	N	0.039579	T	0.36496	0.0969	L	0.49455	1.56	0.29527	N	0.853069	D	0.69078	0.997	P	0.57468	0.821	T	0.19943	-1.0290	10	0.22109	T	0.4	.	13.0988	0.59208	0.0:0.9224:0.0:0.0776	.	248	Q8WTX9	ZDHC1_HUMAN	T	248	ENSP00000340299:A248T	ENSP00000340299:A248T	A	-	1	0	ZDHHC1	65990049	1.000000	0.71417	0.117000	0.21633	0.936000	0.57629	4.549000	0.60726	1.279000	0.44446	0.498000	0.49722	GCC		0.632	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		21	76	0	0	0	1	0	21	76				
KCNA7	3743	broad.mit.edu	37	19	49575299	49575299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49575299C>T	ENST00000221444.1	-	1	899	c.544G>A	c.(544-546)Gca>Aca	p.A182T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	182					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GGGCCGGCTGCGGCTGCAGCA	0.701																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(544-546)Gca>Aca		potassium voltage-gated channel, shaker-related subfamily, member 7							7.0	8.0	8.0					19																	49575299		1827	3688	5515	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49575299C>T	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.544G>A	19.37:g.49575299C>T	ENSP00000221444:p.Ala182Thr						p.A182T	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	1	899	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	182					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.544G>A	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833847	0.32421	.	.	ENSG00000104848	ENST00000221444	D	0.97665	-4.48	4.28	4.28	0.50868	.	1.488200	0.03933	N	0.285642	D	0.94368	0.8189	L	0.29908	0.895	0.29307	N	0.868284	B	0.09022	0.002	B	0.04013	0.001	T	0.80837	-0.1204	10	0.11182	T	0.66	.	14.6178	0.68560	0.0:1.0:0.0:0.0	.	182	Q96RP8	KCNA7_HUMAN	T	182	ENSP00000221444:A182T	ENSP00000221444:A182T	A	-	1	0	KCNA7	54267111	0.022000	0.18835	0.086000	0.20670	0.007000	0.05969	3.360000	0.52299	2.134000	0.65973	0.485000	0.47835	GCA		0.701	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		23	84	0	0	0	1	0	23	84				
MAP3K12	7786	broad.mit.edu	37	12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880791G>A	ENST00000267079.2	-	3	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	96					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(286-288)Cgc>Tgc		mitogen-activated protein kinase kinase kinase 12							82.0	67.0	72.0					12																	53880791		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880791G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.286C>T	12.37:g.53880791G>A	ENSP00000267079:p.Arg96Cys					MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C	p.R96C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			3	511	-			96					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.286C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316940	0.60524	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.77489	-1.09;-1.1;-1.1	4.73	4.73	0.59995	.	0.000000	0.42821	D	0.000645	T	0.78848	0.4348	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.899	T	0.80710	-0.1261	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.6951:0.3049	.	129;96	G3V1Y2;Q12852	.;M3K12_HUMAN	C	96;129;129	ENSP00000267079:R96C;ENSP00000449038:R129C;ENSP00000448689:R129C	ENSP00000267079:R96C	R	-	1	0	MAP3K12	52167058	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	1.747000	0.38298	2.353000	0.79882	0.462000	0.41574	CGC		0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		76	349	0	0	0	1	0	76	349				
CHMP7	91782	broad.mit.edu	37	8	23117748	23117748	+	Silent	SNP	T	T	C	rs139217760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117748T>C	ENST00000397677.1	+	10	1860	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Silent_p.N404N	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	404					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACCCCCGCAATAGGCATTTTA	0.468																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1210-1212)aaT>aaC		charged multivesicular body protein 7		T		1,4405	2.1+/-5.4	0,1,2202	119.0	108.0	112.0		1212	4.6	0.1	8	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous	CHMP7	NM_152272.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		404/454	23117748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23117748T>C	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1212T>C	8.37:g.23117748T>C						CHMP7_ENST00000313219.7_Silent_p.N404N|CHMP7_ENST00000520102.1_3'UTR	p.N404N	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	10	1860	+		Prostate(55;0.0513)	404					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.1212T>C	CCDS6040.1																																																																																				0.468	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		8	524	0	0	0	1	0	8	524				
ZDHHC24	254359	broad.mit.edu	37	11	66307147	66307147	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66307147G>T	ENST00000310442.3	-	3	942	c.708C>A	c.(706-708)tcC>tcA	p.S236S	CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	236						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCAGGTCATAGGAGTGCTGGC	0.711																																						ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.(706-708)tcC>tcA		zinc finger, DHHC-type containing 24							21.0	24.0	23.0					11																	66307147		2198	4292	6490	SO:0001819	synonymous_variant	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66307147G>T	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.708C>A	11.37:g.66307147G>T						ZDHHC24_ENST00000526986.1_Intron	p.S236S	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			3	942	-			236					Q6PEW7|Q9BSJ0	Silent	SNP	ENST00000310442.3	37	c.708C>A	CCDS8143.1																																																																																				0.711	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		27	87	1	0	1.66031e-10	1	1.76115e-10	27	87				
CLCN6	1185	broad.mit.edu	37	1	11898697	11898697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898697G>A	ENST00000346436.6	+	22	2561	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	837	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCTGCCCGTGGTGAACGC	0.622											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2509-2511)Gtg>Atg		chloride channel, voltage-sensitive 6							105.0	93.0	97.0					1																	11898697		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898697G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2509G>A	1.37:g.11898697G>A	ENSP00000234488:p.Val837Met		OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M|CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M|CLCN6_ENST00000312413.6_3'UTR	p.V837M	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	22	2561	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	837			CBS 2.		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2509G>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049858	0.93740	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.98531	-4.98;-4.98;-4.98	5.4	5.4	0.78164	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99890	4.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97391	0.9989	10	0.72032	D	0.01	-31.6049	18.1816	0.89780	0.0:0.0:1.0:0.0	.	815;837	F8W9R3;P51797	.;CLCN6_HUMAN	M	837;815;837	ENSP00000234488:V837M;ENSP00000365670:V815M;ENSP00000365679:V837M	ENSP00000234488:V837M	V	+	1	0	CLCN6	11821284	1.000000	0.71417	0.953000	0.39169	0.894000	0.52154	9.476000	0.97823	2.536000	0.85505	0.561000	0.74099	GTG		0.622	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		49	402	0	0	0	1	0	49	402				
CALU	813	broad.mit.edu	37	7	128407587	128407587	+	Missense_Mutation	SNP	C	C	T	rs369749257		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128407587C>T	ENST00000249364.4	+	6	823	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CALU_ENST00000542996.2_Missense_Mutation_p.R249W|CALU_ENST00000449187.2_Missense_Mutation_p.R241W|CALU_ENST00000535011.2_Intron|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Missense_Mutation_p.R90W|CALU_ENST00000479257.1_Missense_Mutation_p.R249W	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	241	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						TGTTGAGTTTCGGGATAAGAA	0.488																																						ENST00000542996.2																			0				kidney(2)|large_intestine(3)|lung(5)	10						c.(745-747)Cgg>Tgg		calumenin		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,	0,4406		0,0,2203	186.0	175.0	179.0		721,745,745,268,721,	5.4	1.0	7		179	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,intron	CALU	NM_001130674.2,NM_001199671.1,NM_001199672.1,NM_001199674.1,NM_001219.4,NM_001199673.1	101,101,101,101,101,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	241/316,249/324,249/324,90/165,241/316,	128407587	2,13004	2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128407587C>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.721C>T	7.37:g.128407587C>T	ENSP00000249364:p.Arg241Trp					CALU_ENST00000449187.2_Missense_Mutation_p.R241W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.R249W|CALU_ENST00000249364.4_Missense_Mutation_p.R241W|CALU_ENST00000538546.1_Missense_Mutation_p.R90W	p.R249W	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN			7	1688	+			241			EF-hand 5.		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.745C>T	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.943568|3.943568	0.73672|0.73672	0.0|0.0	2.33E-4|2.33E-4	ENSG00000128595|ENSG00000128595	ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257|ENST00000493278	T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55|.	5.44|5.44	5.44|5.44	0.79542|0.79542	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82130|0.82130	0.4970|0.4970	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.86073|0.86073	0.1539|0.1539	10|5	0.39692|.	T|.	0.17|.	-2.4976|-2.4976	11.8068|11.8068	0.52161|0.52161	0.1753:0.8247:0.0:0.0|0.1753:0.8247:0.0:0.0	.|.	249;241|.	D6QS48;O43852|.	.;CALU_HUMAN|.	W|L	249;90;241;241;249|72	ENSP00000438248:R249W;ENSP00000438994:R90W;ENSP00000249364:R241W;ENSP00000408838:R241W;ENSP00000420381:R249W|.	ENSP00000249364:R241W|.	R|S	+|+	1|2	2|0	CALU|CALU	128194823|128194823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.578000|2.578000	0.46051|0.46051	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.488	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		57	285	0	0	0	1	0	57	285				
ZNF70	7621	broad.mit.edu	37	22	24086756	24086756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24086756G>A	ENST00000341976.3	-	2	1032	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CTTCTCCCCGGTGTGGATGAT	0.617																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(571-573)aCc>aTc		zinc finger protein 70							65.0	57.0	59.0					22																	24086756		2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086756G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.572C>T	22.37:g.24086756G>A	ENSP00000339314:p.Thr191Ile						p.T191I	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1032	-			191						Missense_Mutation	SNP	ENST00000341976.3	37	c.572C>T	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687932	0.68271	.	.	ENSG00000187792	ENST00000341976	T	0.25749	1.78	3.49	3.49	0.39957	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42494	0.1205	L	0.46947	1.48	0.39116	D	0.961569	D	0.89917	1.0	D	0.79784	0.993	T	0.45673	-0.9245	9	0.87932	D	0	-18.761	13.3553	0.60625	0.0:0.0:1.0:0.0	.	191	Q9UC06	ZNF70_HUMAN	I	191	ENSP00000339314:T191I	ENSP00000339314:T191I	T	-	2	0	ZNF70	22416756	1.000000	0.71417	0.972000	0.41901	0.736000	0.42039	7.233000	0.78125	2.269000	0.75478	0.558000	0.71614	ACC		0.617	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		43	235	0	0	0	1	0	43	235				
SAAL1	113174	broad.mit.edu	37	11	18111740	18111740	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18111740T>C	ENST00000524803.1	-	6	620	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.M191V			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	191										breast(2)|large_intestine(5)|lung(8)	15						GAACTTGACATAATGAAGCAA	0.353																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(571-573)Atg>Gtg		serum amyloid A-like 1							49.0	46.0	47.0					11																	18111740		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18111740T>C	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.571A>G	11.37:g.18111740T>C	ENSP00000432487:p.Met191Val					SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000300013.4_Missense_Mutation_p.M191V	p.M191V			Q96ER3	SAAL1_HUMAN			6	620	-			191					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.571A>G	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445277	0.63178	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.50813	1.36;0.73;1.3;0.84;0.73;1.3	5.78	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);	0.081223	0.85682	D	0.000000	T	0.55847	0.1946	M	0.63843	1.955	0.42764	D	0.993818	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.53062	0.717;0.717;0.717	T	0.59247	-0.7490	10	0.72032	D	0.01	-13.3883	10.8183	0.46589	0.141:0.0:0.0:0.859	.	191;191;191	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	V	191;191;28;80;191;180	ENSP00000432487:M191V;ENSP00000300013:M191V;ENSP00000432044:M28V;ENSP00000436031:M80V;ENSP00000432216:M191V;ENSP00000431489:M180V	ENSP00000300013:M191V	M	-	1	0	SAAL1	18068316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.326000	0.65875	0.963000	0.38082	0.519000	0.50382	ATG		0.353	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		11	204	0	0	0	1	0	11	204				
TCF7L1	83439	broad.mit.edu	37	2	85532507	85532507	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85532507C>A	ENST00000282111.3	+	8	1245	c.970C>A	c.(970-972)Ctg>Atg	p.L324M		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	324	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCCCAGCCTGAGCCCTGC	0.652																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(970-972)Ctg>Atg		transcription factor 7-like 1 (T-cell specific, HMG-box)							42.0	41.0	41.0					2																	85532507		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85532507C>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.970C>A	2.37:g.85532507C>A	ENSP00000282111:p.Leu324Met						p.L324M	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			8	1245	+			324			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.970C>A	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	6.159	0.397591	0.11638	.	.	ENSG00000152284	ENST00000282111	D	0.98280	-4.84	5.18	4.22	0.49857	.	0.260583	0.36519	N	0.002558	D	0.93119	0.7809	N	0.08118	0	0.28925	N	0.891913	B	0.10296	0.003	B	0.06405	0.002	D	0.87903	0.2692	10	0.46703	T	0.11	.	9.6936	0.40143	0.3492:0.6508:0.0:0.0	.	324	Q9HCS4	TF7L1_HUMAN	M	324	ENSP00000282111:L324M	ENSP00000282111:L324M	L	+	1	2	TCF7L1	85386018	0.915000	0.31059	1.000000	0.80357	0.043000	0.13939	0.246000	0.18160	2.401000	0.81631	0.591000	0.81541	CTG		0.652	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		12	271	1	0	6.40141e-05	1	6.5221e-05	12	271				
CASKIN2	57513	broad.mit.edu	37	17	73500901	73500901	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73500901T>C	ENST00000321617.3	-	11	1770	c.1184A>G	c.(1183-1185)gAc>gGc	p.D395G	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	395						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCTGTCTGGGCTGAG	0.672																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1183-1185)gAc>gGc		CASK interacting protein 2							31.0	27.0	28.0					17																	73500901		2203	4298	6501	SO:0001583	missense	57513					cytoplasm		g.chr17:73500901T>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1184A>G	17.37:g.73500901T>C	ENSP00000325355:p.Asp395Gly					CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	p.D395G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1770	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		395					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.1184A>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885184	0.72410	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69435	-0.4;-0.23	4.8	4.8	0.61643	.	0.326389	0.22124	N	0.064290	T	0.46190	0.1380	N	0.24115	0.695	0.80722	D	1	P	0.43750	0.816	B	0.36378	0.223	T	0.40040	-0.9584	10	0.19147	T	0.46	.	10.1333	0.42691	0.0:0.0:0.1677:0.8323	.	395	Q8WXE0	CSKI2_HUMAN	G	395;313	ENSP00000325355:D395G;ENSP00000406963:D313G	ENSP00000325355:D395G	D	-	2	0	CASKIN2	71012496	.	.	1.000000	0.80357	0.994000	0.84299	.	.	2.020000	0.59435	0.459000	0.35465	GAC		0.672	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		29	127	0	0	0	1	0	29	127				
ZNF791	163049	broad.mit.edu	37	19	12738624	12738624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12738624C>T	ENST00000343325.4	+	4	443	c.281C>T	c.(280-282)aCt>aTt	p.T94I	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACGAAGAAGACTGCCGGAGTA	0.443																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(280-282)aCt>aTt		zinc finger protein 791							153.0	146.0	149.0					19																	12738624		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738624C>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.281C>T	19.37:g.12738624C>T	ENSP00000342974:p.Thr94Ile					ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR	p.T94I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	443	+			94					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.281C>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	0.496	-0.873322	0.02570	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122	T;T	0.06294	3.42;3.32	1.22	0.0184	0.14117	.	.	.	.	.	T	0.04227	0.0117	N	0.16656	0.425	0.09310	N	0.999994	B	0.16166	0.016	B	0.19391	0.025	T	0.41034	-0.9531	9	0.62326	D	0.03	.	6.1824	0.20478	0.2991:0.7009:0.0:0.0	.	94	Q3KP31	ZN791_HUMAN	I	94;94;62	ENSP00000342974:T94I;ENSP00000441761:T62I	ENSP00000342974:T94I	T	+	2	0	ZNF791	12599624	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.071000	0.14594	0.052000	0.16007	0.484000	0.47621	ACT		0.443	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		161	683	0	0	0	1	0	161	683				
CTCF	10664	broad.mit.edu	37	16	67662366	67662366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67662366C>A	ENST00000264010.4	+	9	2056	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	538					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGCAGCTTCTCGACATGCA	0.547																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1612-1614)Ctc>Atc		CCCTC-binding factor (zinc finger protein)							197.0	163.0	174.0					16																	67662366		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662366C>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1612C>A	16.37:g.67662366C>A	ENSP00000264010:p.Leu538Ile					CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	p.L538I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2056	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	538					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1612C>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306403	0.95629	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.68624	-0.34;-0.34	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	D	0.85805	0.5782	M	0.91561	3.22	0.80722	D	1	D;D	0.64830	0.994;0.993	P;D	0.67548	0.888;0.952	D	0.88196	0.2880	10	0.72032	D	0.01	-2.4016	19.488	0.95037	0.0:1.0:0.0:0.0	.	210;538	B5MC38;P49711	.;CTCF_HUMAN	I	538;210	ENSP00000264010:L538I;ENSP00000384707:L210I	ENSP00000264010:L538I	L	+	1	0	CTCF	66219867	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.029000	0.70895	2.702000	0.92279	0.462000	0.41574	CTC		0.547	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		135	528	1	0	3.08405e-71	1	3.92057e-71	135	528				
MZT2B	80097	broad.mit.edu	37	2	130948058	130948058	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130948058C>T	ENST00000281871.6	+	3	691	c.336C>T	c.(334-336)agC>agT	p.S112S	MZT2B_ENST00000409255.1_Silent_p.S172S	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	112						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						ACAAAGGCAGCGCTGCCCTCG	0.627																																						ENST00000281871.6																			0				lung(1)	1						c.(334-336)agC>agT		mitotic spindle organizing protein 2B							30.0	29.0	30.0					2																	130948058		2201	4300	6501	SO:0001819	synonymous_variant	80097					centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr2:130948058C>T	BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"""	613450	"""family with sequence similarity 128, member B"""	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.336C>T	2.37:g.130948058C>T						MZT2B_ENST00000409255.1_Silent_p.S172S	p.S112S	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN			3	691	+			112					Q96CG4	Silent	SNP	ENST00000281871.6	37	c.336C>T	CCDS2157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.120|0.120	-1.126970|-1.126970	0.01770|0.01770	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000425361|ENST00000455239	.|.	.|.	.|.	3.47|3.47	0.573|0.573	0.17363|0.17363	.|.	.|.	.|.	.|.	.|.	T|T	0.36908|0.36908	0.0984|0.0984	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999993|0.999993	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31280|0.31280	-0.9949|-0.9949	4|5	.|0.48119	.|T	.|0.1	-5.8906|-5.8906	6.3318|6.3318	0.21274|0.21274	0.0:0.5373:0.0:0.4627|0.0:0.5373:0.0:0.4627	.|.	.|.	.|.	.|.	V|C	76|53	.|.	.|ENSP00000404629:R53C	A|R	+|+	2|1	0|0	MZT2B|MZT2B	130664528|130664528	0.000000|0.000000	0.05858|0.05858	0.071000|0.071000	0.20095|0.20095	0.062000|0.062000	0.15995|0.15995	-0.131000|-0.131000	0.10482|0.10482	-0.004000|-0.004000	0.14419|0.14419	-0.372000|-0.372000	0.07161|0.07161	GCG|CGC		0.627	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254518.1	NM_025029		78	199	0	0	0	1	0	78	199				
PAK7	57144	broad.mit.edu	37	20	9546846	9546846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9546846C>T	ENST00000378429.3	-	6	1722	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	PAK7_ENST00000353224.5_Silent_p.S392S|PAK7_ENST00000378423.1_Silent_p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	392	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S392S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGATGTACTGCGAACTGCTCT	0.597																																						ENST00000378429.3																			1	Substitution - coding silent(1)	p.S392S(1)	lung(1)	NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1174-1176)tcG>tcA		p21 protein (Cdc42/Rac)-activated kinase 7							133.0	127.0	129.0					20																	9546846		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546846C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1176G>A	20.37:g.9546846C>T						PAK7_ENST00000378423.1_Silent_p.S392S|PAK7_ENST00000353224.5_Silent_p.S392S	p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1722	-			392			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1176G>A	CCDS13107.1																																																																																				0.597	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			108	444	0	0	0	1	0	108	444				
RTN2	6253	broad.mit.edu	37	19	45991740	45991740	+	Missense_Mutation	SNP	G	G	A	rs199848753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45991740G>A	ENST00000245923.4	-	9	1721	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RTN2_ENST00000590526.1_Missense_Mutation_p.R222W|RTN2_ENST00000430715.2_Missense_Mutation_p.R156W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W|PPM1N_ENST00000401705.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	496	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGGTGCTGCCGGTACAGCAGG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17968	0.0		0.001	False		,,,				2504	0.0					ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(664-666)Cgg>Tgg		reticulon 2							105.0	100.0	101.0					19																	45991740		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45991740G>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1486C>T	19.37:g.45991740G>A	ENSP00000245923:p.Arg496Trp					RTN2_ENST00000245923.4_Missense_Mutation_p.R496W|RTN2_ENST00000430715.2_Missense_Mutation_p.R156W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W	p.R222W			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	9	1790	-		Ovarian(192;0.051)|all_neural(266;0.112)	496					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.664C>T	CCDS12665.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.65	3.866636	0.72065	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.43688	0.94;0.94;0.94	5.58	3.28	0.37604	.	0.243600	0.34411	N	0.003995	T	0.48768	0.1518	L	0.29908	0.895	0.30776	N	0.742524	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	T	0.52351	-0.8587	10	0.87932	D	0	-11.9043	10.3065	0.43683	0.0:0.0:0.6272:0.3728	.	423;496	O75298-2;O75298	.;RTN2_HUMAN	W	423;496;156	ENSP00000345127:R423W;ENSP00000245923:R496W;ENSP00000398178:R156W	ENSP00000245923:R496W	R	-	1	2	RTN2	50683580	0.998000	0.40836	0.993000	0.49108	0.990000	0.78478	0.669000	0.25142	1.314000	0.45095	0.650000	0.86243	CGG		0.567	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		77	340	0	0	0	1	0	77	340				
GBP1P1	400759	broad.mit.edu	37	1	89885870	89885870	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89885870T>C	ENST00000513638.1	+	0	410					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		CTGGGAGATGTAGAGAAGGTG	0.468																																						ENST00000513638.1																			0																																																			0							g.chr1:89885870T>C			1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89885870T>C								NR_003133.2						0	410	+									RNA	SNP	ENST00000513638.1	37																																																																																						0.468	GBP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000360073.1	NR_003133		16	490	0	0	0	1	0	16	490				
SLC7A7	9056	broad.mit.edu	37	14	23243280	23243280	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23243280G>A	ENST00000397532.3	-	9	1816	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000554517.1_Silent_p.L165L			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	431					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACAGCCACCAGGAAGATGGTG	0.493																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(1291-1293)Ctg>Ttg		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							131.0	128.0	129.0					14																	23243280		2203	4300	6503	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23243280G>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1291C>T	14.37:g.23243280G>A						SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000554517.1_Silent_p.L165L	p.L431L			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	9	1816	-	all_cancers(95;8.44e-05)		431					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.1291C>T	CCDS9574.1																																																																																				0.493	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			54	289	0	0	0	1	0	54	289				
CCER1	196477	broad.mit.edu	37	12	91348413	91348413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91348413G>A	ENST00000358859.2	-	1	540	c.107C>T	c.(106-108)tCg>tTg	p.S36L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	36																	ATGGCAGGACGACCAGGAGCT	0.657																																						ENST00000358859.2																			0											c.(106-108)tCg>tTg		coiled-coil glutamate-rich protein 1							17.0	16.0	17.0					12																	91348413		2201	4300	6501	SO:0001583	missense	196477							g.chr12:91348413G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.107C>T	12.37:g.91348413G>A	ENSP00000351727:p.Ser36Leu					CCER1_ENST00000548187.1_Intron	p.S36L	NM_152638.2	NP_689851.1					1	540	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.107C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605949	0.46527	.	.	ENSG00000197651	ENST00000358859	T	0.43294	0.95	5.08	4.18	0.49190	.	0.988962	0.08180	N	0.985692	T	0.47655	0.1457	L	0.27053	0.805	0.26525	N	0.974364	D	0.67145	0.996	P	0.57548	0.823	T	0.40794	-0.9544	10	0.72032	D	0.01	-7.7442	11.2994	0.49295	0.0:0.1837:0.8163:0.0	.	36	Q8TC90	CL012_HUMAN	L	36	ENSP00000351727:S36L	ENSP00000351727:S36L	S	-	2	0	C12orf12	89872544	0.970000	0.33590	0.386000	0.26170	0.144000	0.21451	1.817000	0.39002	1.342000	0.45619	0.462000	0.41574	TCG		0.657	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		22	93	0	0	0	1	0	22	93				
OGFOD2	79676	broad.mit.edu	37	12	123463381	123463381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463381C>A	ENST00000228922.7	+	6	645	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|ARL6IP4_ENST00000412505.2_5'Flank|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L145M|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	205							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GATGGCCCTGCTGTACCCTGA	0.667																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(433-435)Ctg>Atg		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						14.0	19.0	17.0					12																	123463381		2093	4216	6309	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463381C>A	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.613C>A	12.37:g.123463381C>A	ENSP00000228922:p.Leu205Met					OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000228922.7_Missense_Mutation_p.L205M|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000542117.1_3'UTR	p.L145M	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	7	1172	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		205					B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.433C>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399435	0.83120	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89415	-2.51;0.78	5.42	4.52	0.55395	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94865	0.8025	10	0.66056	D	0.02	-20.6502	14.5866	0.68328	0.0:0.9285:0.0:0.0715	.	205;145	Q6N063;Q6N063-2	OGFD2_HUMAN;.	M	145;41;41;41;41;41;41;41;205;41	ENSP00000380544:L145M;ENSP00000228922:L205M	ENSP00000228922:L205M	L	+	1	2	OGFOD2	122029334	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.083000	0.57643	1.253000	0.44018	0.561000	0.74099	CTG		0.667	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		26	136	1	0	6.00712e-18	1	6.65163e-18	26	136				
SAMHD1	25939	broad.mit.edu	37	20	35563508	35563508	+	Nonsense_Mutation	SNP	G	G	A	rs121434517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563508G>A	ENST00000262878.4	-	4	632	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	145			R -> Q (in AGS5). {ECO:0000269|PubMed:19525956}.		dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGATGTATCGAAGACGTTGA	0.433																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(433-435)Cga>Tga		SAM domain and HD domain 1							135.0	125.0	129.0					20																	35563508		2203	4300	6503	SO:0001587	stop_gained	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35563508G>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.433C>T	20.37:g.35563508G>A	ENSP00000262878:p.Arg145*					SAMHD1_ENST00000373694.5_5'UTR	p.R145*	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			4	632	-		Myeloproliferative disorder(115;0.00878)	145		R -> Q (in AGS5).			B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Nonsense_Mutation	SNP	ENST00000262878.4	37	c.433C>T	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	38	7.160328	0.98103	.	.	ENSG00000101347	ENST00000262878	.	.	.	6.05	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0364	9.3019	0.37851	0.0657:0.0:0.6789:0.2553	.	.	.	.	X	145	.	ENSP00000262878:R145X	R	-	1	2	SAMHD1	34996922	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	3.147000	0.50639	1.571000	0.49722	0.650000	0.86243	CGA		0.433	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		75	281	0	0	0	1	0	75	281				
DDX58	23586	broad.mit.edu	37	9	32488121	32488121	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32488121A>G	ENST00000379883.2	-	8	1191	c.1034T>C	c.(1033-1035)aTt>aCt	p.I345T	DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379882.1_Missense_Mutation_p.I300T|DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000379868.1_Missense_Mutation_p.I142T	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	345	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGGAGTTAAAATGATGATGTC	0.383																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(898-900)aTt>aCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							168.0	159.0	162.0					9																	32488121		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32488121A>G	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1034T>C	9.37:g.32488121A>G	ENSP00000369213:p.Ile345Thr					DDX58_ENST00000379883.2_Missense_Mutation_p.I345T|DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379868.1_Missense_Mutation_p.I142T	p.I300T			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	7	1056	-			345			Helicase ATP-binding.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.899T>C	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367771	0.61513	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.57	4.57	0.56435	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.669254	0.13343	N	0.395009	T	0.56247	0.1972	M	0.65320	2	0.35448	D	0.795485	P;P;P;P	0.48998	0.918;0.542;0.814;0.889	P;B;P;P	0.55545	0.519;0.277;0.778;0.726	T	0.65788	-0.6083	10	0.59425	D	0.04	-1.9774	13.2283	0.59927	1.0:0.0:0.0:0.0	.	142;300;274;345	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	T	300;345;142;274;142	ENSP00000369212:I300T;ENSP00000369213:I345T;ENSP00000369197:I142T;ENSP00000442160:I274T;ENSP00000443055:I142T	ENSP00000369197:I142T	I	-	2	0	DDX58	32478121	0.997000	0.39634	0.986000	0.45419	0.910000	0.53928	6.586000	0.74067	1.846000	0.53633	0.374000	0.22700	ATT		0.383	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		98	328	0	0	0	1	0	98	328				
TAX1BP1	8887	broad.mit.edu	37	7	27824902	27824902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27824902G>T	ENST00000396319.2	+	6	821	c.733G>T	c.(733-735)Gca>Tca	p.A245S	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	245					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AACACATAAAGCAATTGAAAA	0.279																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(733-735)Gca>Tca		Tax1 (human T-cell leukemia virus type I) binding protein 1							80.0	77.0	78.0					7																	27824902		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27824902G>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.733G>T	7.37:g.27824902G>T	ENSP00000379612:p.Ala245Ser					TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S	p.A245S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		6	821	+			245					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.733G>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166803	0.94768	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98	5.89	5.89	0.94794	.	0.000000	0.53938	D	0.000060	T	0.30823	0.0777	L	0.53249	1.67	0.58432	D	0.999994	D;P;D	0.89917	1.0;0.877;0.971	D;P;P	0.91635	0.999;0.74;0.888	T	0.00122	-1.2027	10	0.30854	T	0.27	-17.8587	20.2572	0.98426	0.0:0.0:1.0:0.0	.	88;245;245	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	S	245;245;245;88;245	ENSP00000444811:A245S;ENSP00000265393:A245S;ENSP00000386515:A245S;ENSP00000391907:A88S;ENSP00000379612:A245S	ENSP00000265393:A245S	A	+	1	0	TAX1BP1	27791427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.960000	0.70348	2.793000	0.96121	0.650000	0.86243	GCA		0.279	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		45	215	1	0	1.00776e-21	1	1.13667e-21	45	215				
CTSS	1520	broad.mit.edu	37	1	150720331	150720331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150720331G>A	ENST00000368985.3	-	7	1078	c.818C>T	c.(817-819)aCt>aTt	p.T273I	CTSS_ENST00000448301.2_Missense_Mutation_p.T223I|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	273					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACATTCTGAGTACAGGATGG	0.343																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(817-819)aCt>aTt		cathepsin S							127.0	122.0	124.0					1																	150720331		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150720331G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.818C>T	1.37:g.150720331G>A	ENSP00000357981:p.Thr273Ile					CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.T223I	p.T273I	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		7	1078	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		273					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.818C>T	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341288	0.41498	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.87412	-2.25;1.91	5.4	4.42	0.53409	Peptidase C1A, papain C-terminal (2);	0.269717	0.41605	D	0.000842	D	0.86029	0.5835	N	0.26130	0.795	0.41652	D	0.989139	D;P	0.67145	0.996;0.883	D;P	0.70935	0.971;0.738	D	0.88321	0.2962	10	0.87932	D	0	.	13.6284	0.62181	0.0:0.0:0.8444:0.1556	.	223;273	B4DWC9;P25774	.;CATS_HUMAN	I	223;273	ENSP00000408414:T223I;ENSP00000357981:T273I	ENSP00000357981:T273I	T	-	2	0	CTSS	148986955	0.920000	0.31207	0.940000	0.37924	0.066000	0.16364	1.569000	0.36428	2.521000	0.84997	0.655000	0.94253	ACT		0.343	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		99	457	0	0	0	1	0	99	457				
C22orf31	25770	broad.mit.edu	37	22	29455169	29455169	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29455169C>T	ENST00000216071.4	-	3	485	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	145										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						ACTTTCTTTACTCTAGCCAGG	0.458																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.e3-1		chromosome 22 open reading frame 31							72.0	69.0	70.0					22																	29455169		2203	4300	6503	SO:0001630	splice_region_variant	25770							g.chr22:29455169C>T	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.433-1G>A	22.37:g.29455169C>T							p.S145_splice	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			3	485	-			145					A0AV97	Splice_Site	SNP	ENST00000216071.4	37	c.432_splice	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768448	0.49680	.	.	ENSG00000100249	ENST00000216071	T	0.37058	1.22	5.64	4.63	0.57726	.	0.427481	0.24094	N	0.041604	T	0.27169	0.0666	L	0.27053	0.805	0.27086	N	0.962966	B	0.19073	0.033	B	0.26202	0.067	T	0.18272	-1.0342	10	0.45353	T	0.12	-2.0501	10.3455	0.43903	0.0:0.9126:0.0:0.0874	.	145	O95567	CV031_HUMAN	N	145	ENSP00000216071:S145N	ENSP00000216071:S145N	S	-	2	0	C22orf31	27785169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.988000	0.40697	1.628000	0.50416	0.650000	0.86243	AGT		0.458	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370	Missense_Mutation	18	410	0	0	0	1	0	18	410				
EYA2	2139	broad.mit.edu	37	20	45801458	45801458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45801458G>A	ENST00000327619.5	+	12	1515	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	EYA2_ENST00000317304.6_Missense_Mutation_p.A351T|EYA2_ENST00000357410.3_Missense_Mutation_p.A381T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	381				A -> S (in Ref. 7; AAB42065). {ECO:0000305}.	DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGGAAGCTGGCCTTCCGCTA	0.592																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1141-1143)Gcc>Acc		eyes absent homolog 2 (Drosophila)							96.0	79.0	85.0					20																	45801458		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45801458G>A		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1141G>A	20.37:g.45801458G>A	ENSP00000333640:p.Ala381Thr					EYA2_ENST00000357410.3_Missense_Mutation_p.A381T|EYA2_ENST00000317304.6_Missense_Mutation_p.A351T	p.A381T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			12	1515	+		Myeloproliferative disorder(115;0.0241)	381	A -> S (in Ref. 7; AAB42065).				Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1141G>A	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719770	0.96839	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.82433	-1.61;-1.61;-1.61	5.59	5.59	0.84812	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.998;0.997	D	0.94016	0.7288	10	0.87932	D	0	-13.2396	19.5758	0.95444	0.0:0.0:1.0:0.0	.	381;351;381;381	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	381;381;351;351	ENSP00000333640:A381T;ENSP00000349986:A381T;ENSP00000321590:A351T	ENSP00000321590:A351T	A	+	1	0	EYA2	45234865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.755000	0.98912	2.632000	0.89209	0.655000	0.94253	GCC		0.592	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		84	411	0	0	0	1	0	84	411				
FREM2	341640	broad.mit.edu	37	13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A	rs548177107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1893	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1893I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		15518	0.001		0.0	False		,,,				2504	0.0					ENST00000280481.7																			1	Substitution - Missense(1)	p.V1893I(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(5677-5679)Gtt>Att		FRAS1 related extracellular matrix protein 2							205.0	195.0	198.0					13																	39357242		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39357242G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5677G>A	13.37:g.39357242G>A	ENSP00000280481:p.Val1893Ile						p.V1893I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	5	5893	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1893			Calx-beta 2.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5677G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239314	0.10023	.	.	ENSG00000150893	ENST00000280481	T	0.36699	1.24	5.98	-3.55	0.04639	Na-Ca exchanger/integrin-beta4 (2);	0.362015	0.30920	N	0.008612	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32455	-0.9906	10	0.06757	T	0.87	.	14.9111	0.70758	0.439:0.0:0.561:0.0	.	1893	Q5SZK8	FREM2_HUMAN	I	1893	ENSP00000280481:V1893I	ENSP00000280481:V1893I	V	+	1	0	FREM2	38255242	0.001000	0.12720	0.068000	0.19968	0.823000	0.46562	0.130000	0.15850	-0.977000	0.03537	-0.439000	0.05793	GTT		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		136	522	0	0	0	1	0	136	522				
TUBGCP6	85378	broad.mit.edu	37	22	50682221	50682221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50682221G>A	ENST00000248846.5	-	1	772	c.668C>T	c.(667-669)aCt>aTt	p.T223I	MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T223I			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	223					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATGTCATAAGTGCGGCTGTG	0.577																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(667-669)aCt>aTt		tubulin, gamma complex associated protein 6							43.0	46.0	45.0					22																	50682221		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682221G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.668C>T	22.37:g.50682221G>A	ENSP00000248846:p.Thr223Ile					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T223I	p.T223I	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1160	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	223					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.668C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564894	0.86439	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.19806	2.46;2.12	4.17	4.17	0.49024	.	0.066129	0.64402	D	0.000014	T	0.44561	0.1299	M	0.69823	2.125	0.54753	D	0.99998	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.66497	0.919;0.918;0.944	T	0.50048	-0.8873	10	0.72032	D	0.01	.	16.2595	0.82533	0.0:0.0:1.0:0.0	.	223;223;223	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	I	223	ENSP00000248846:T223I;ENSP00000397387:T223I	ENSP00000248846:T223I	T	-	2	0	TUBGCP6	49024348	1.000000	0.71417	0.848000	0.33437	0.725000	0.41563	9.236000	0.95360	2.150000	0.67090	0.555000	0.69702	ACT		0.577	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		39	223	0	0	0	1	0	39	223				
BAI3	577	broad.mit.edu	37	6	70070821	70070821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70070821T>G	ENST00000370598.1	+	29	4477	c.3656T>G	c.(3655-3657)aTt>aGt	p.I1219S	BAI3_ENST00000546190.1_Missense_Mutation_p.I183S|BAI3_ENST00000238918.8_Missense_Mutation_p.I425S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1219					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTTCTAGGATTTCTCTAAAT	0.393																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3655-3657)aTt>aGt		brain-specific angiogenesis inhibitor 3							87.0	87.0	87.0					6																	70070821		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70070821T>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3656T>G	6.37:g.70070821T>G	ENSP00000359630:p.Ile1219Ser					BAI3_ENST00000238918.8_Missense_Mutation_p.I425S|BAI3_ENST00000546190.1_Missense_Mutation_p.I183S	p.I1219S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4477	+		all_lung(197;0.212)	1219					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3656T>G	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932263	0.73442	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.47177	2.02;2.63;0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.37630	1.12	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.72982	0.979;0.915	T	0.41627	-0.9498	10	0.02654	T	1	.	15.8023	0.78463	0.0:0.0:0.0:1.0	.	425;1219	B7Z356;O60242	.;BAI3_HUMAN	S	1219;425;183	ENSP00000359630:I1219S;ENSP00000238918:I425S;ENSP00000441821:I183S	ENSP00000238918:I425S	I	+	2	0	BAI3	70127542	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.698000	0.84413	2.126000	0.65437	0.482000	0.46254	ATT		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			67	388	0	0	0	1	0	67	388				
GRID2	2895	broad.mit.edu	37	4	94547517	94547517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94547517C>A	ENST00000282020.4	+	14	2549	c.2291C>A	c.(2290-2292)aCt>aAt	p.T764N	GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	764					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATTGGAAATACTGTTGCTGAT	0.393																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2290-2292)aCt>aAt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						196.0	175.0	182.0					4																	94547517		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94547517C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2291C>A	4.37:g.94547517C>A	ENSP00000282020:p.Thr764Asn					GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	p.T764N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	14	2549	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	764					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2291C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803975	0.31869	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11385	2.78;2.78	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.088108	0.85682	D	0.000000	T	0.06645	0.0170	N	0.03154	-0.405	0.42195	D	0.991745	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40608	-0.9554	10	0.38643	T	0.18	.	18.9243	0.92538	0.0:1.0:0.0:0.0	.	669;764	E9PH24;O43424	.;GRID2_HUMAN	N	764;669	ENSP00000282020:T764N;ENSP00000421257:T669N	ENSP00000282020:T764N	T	+	2	0	GRID2	94766540	0.991000	0.36638	0.539000	0.28077	0.966000	0.64601	2.961000	0.49168	2.542000	0.85734	0.484000	0.47621	ACT		0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			106	413	1	0	4.58075e-42	1	5.57258e-42	106	413				
OR10G8	219869	broad.mit.edu	37	11	123900354	123900354	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123900354G>T	ENST00000431524.1	+	1	58	c.25G>T	c.(25-27)Gcg>Tcg	p.A9S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCTACTGACAGCGTTCATCCT	0.542																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(25-27)Gcg>Tcg		olfactory receptor, family 10, subfamily G, member 8							170.0	160.0	164.0					11																	123900354		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900354G>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.25G>T	11.37:g.123900354G>T	ENSP00000389072:p.Ala9Ser						p.A9S	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	58	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	9					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.25G>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	9.239	1.037911	0.19669	.	.	ENSG00000234560	ENST00000431524	T	0.01076	5.37	2.95	-1.16	0.09678	.	1.245330	0.05634	N	0.582270	T	0.00784	0.0026	N	0.04090	-0.28	0.09310	N	1	B	0.16396	0.017	B	0.23150	0.044	T	0.48736	-0.9009	10	0.66056	D	0.02	.	4.0905	0.09967	0.3494:0.0:0.463:0.1876	.	9	Q8NGN5	O10G8_HUMAN	S	9	ENSP00000389072:A9S	ENSP00000389072:A9S	A	+	1	0	OR10G8	123405564	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.267000	0.18552	-0.393000	0.07739	-0.237000	0.12165	GCG		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		14	753	1	0	0.11911	1	0.119318	14	753				
PIK3R2	5296	broad.mit.edu	37	19	18279918	18279918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18279918C>A	ENST00000593731.1	+	16	2561	c.2001C>A	c.(1999-2001)caC>caA	p.H667Q	PIK3R2_ENST00000222254.8_Missense_Mutation_p.H667Q			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	667	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ACACCAAGCACTGCGTCATCT	0.682																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1999-2001)caC>caA		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							41.0	40.0	41.0					19																	18279918		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18279918C>A		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.2001C>A	19.37:g.18279918C>A	ENSP00000471914:p.His667Gln					PIK3R2_ENST00000222254.7_Missense_Mutation_p.H667Q	p.H667Q			O00459	P85B_HUMAN			16	2561	+			667			SH2 2.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.2001C>A	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627696	0.87560	.	.	ENSG00000105647	ENST00000222254	D	0.91792	-2.91	4.12	4.12	0.48240	SH2 motif (4);	0.054146	0.64402	D	0.000001	D	0.97514	0.9186	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99066	1.0832	10	0.87932	D	0	-33.9436	16.2136	0.82186	0.0:1.0:0.0:0.0	.	667	O00459	P85B_HUMAN	Q	667	ENSP00000222254:H667Q	ENSP00000222254:H667Q	H	+	3	2	PIK3R2	18140918	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.738000	0.62073	2.251000	0.74343	0.448000	0.29417	CAC		0.682	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		27	291	1	0	4.22769e-11	1	4.50498e-11	27	291				
C16orf71	146562	broad.mit.edu	37	16	4790160	4790160	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4790160C>T	ENST00000299320.5	+	4	761	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	C16orf71_ENST00000590191.1_Silent_p.L109L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	95										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACAGCCAGTTCTGGTGCCTGC	0.423																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(283-285)Ctg>Ttg		chromosome 16 open reading frame 71							80.0	82.0	82.0					16																	4790160		2197	4300	6497	SO:0001819	synonymous_variant	146562							g.chr16:4790160C>T	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.283C>T	16.37:g.4790160C>T						C16orf71_ENST00000590191.1_Silent_p.L109L|RP11-127I20.7_ENST00000588099.1_RNA	p.L95L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			4	761	+			95					Q8NCV0	Silent	SNP	ENST00000299320.5	37	c.283C>T	CCDS10521.1																																																																																				0.423	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		27	570	0	0	0	1	0	27	570				
USP12	219333	broad.mit.edu	37	13	27643438	27643438	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27643438G>T	ENST00000282344.6	-	9	1351	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	365	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GAGACTGATAGAAAAGGATGT	0.398																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1093-1095)ttC>ttA		ubiquitin specific peptidase 12							111.0	105.0	107.0					13																	27643438		2203	4300	6503	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27643438G>T	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.1095C>A	13.37:g.27643438G>T	ENSP00000282344:p.Phe365Leu						p.F365L	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	9	1351	-		Lung SC(185;0.0161)	365					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.1095C>A	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844601	0.71488	.	.	ENSG00000152484	ENST00000282344	T	0.39056	1.1	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69614	-0.5098	10	0.72032	D	0.01	-14.351	19.4565	0.94892	0.0:0.0:1.0:0.0	.	365	O75317	UBP12_HUMAN	L	365	ENSP00000282344:F365L	ENSP00000282344:F365L	F	-	3	2	USP12	26541438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.682000	0.91365	0.650000	0.86243	TTC		0.398	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		39	362	1	0	2.40579e-17	1	2.65515e-17	39	362				
PREX1	57580	broad.mit.edu	37	20	47297832	47297832	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47297832T>G	ENST00000371941.3	-	11	1398	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T	PREX1_ENST00000396220.1_Missense_Mutation_p.K459T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	459	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTCTTCCGTCTTGCTGATTTC	0.542																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1375-1377)aAg>aCg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							242.0	215.0	224.0					20																	47297832		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47297832T>G	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1376A>C	20.37:g.47297832T>G	ENSP00000361009:p.Lys459Thr					PREX1_ENST00000371941.3_Missense_Mutation_p.K459T	p.K459T			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		11	1398	-			459			DEP 1.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1376A>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.788204	0.70337	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.11604	2.76;2.76	4.41	4.41	0.53225	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.233910	0.28349	U	0.015671	T	0.06096	0.0158	N	0.02658	-0.545	0.58432	D	0.999997	P	0.39131	0.661	B	0.42593	0.392	T	0.52741	-0.8535	10	0.30854	T	0.27	.	13.7239	0.62745	0.0:0.0:0.0:1.0	.	459	Q8TCU6	PREX1_HUMAN	T	459	ENSP00000361009:K459T;ENSP00000379522:K459T	ENSP00000361009:K459T	K	-	2	0	PREX1	46731239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.960000	0.87893	1.636000	0.50526	0.468000	0.43344	AAG		0.542	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		212	1085	0	0	0	1	0	212	1085				
C17orf74	201243	broad.mit.edu	37	17	7330031	7330031	+	Missense_Mutation	SNP	C	C	T	rs554324110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7330031C>T	ENST00000333870.3	+	3	795	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	241						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCTGAGCTGCGCTGCATGCC	0.642													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17145	0.0		0.0	False		,,,				2504	0.0					ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(721-723)Cgc>Tgc		chromosome 17 open reading frame 74							43.0	48.0	46.0					17																	7330031		2143	4249	6392	SO:0001583	missense	201243					integral to membrane		g.chr17:7330031C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.721C>T	17.37:g.7330031C>T	ENSP00000328061:p.Arg241Cys					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.R241C	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	795	+		Prostate(122;0.157)	241						Missense_Mutation	SNP	ENST00000333870.3	37	c.721C>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474133	0.63737	.	.	ENSG00000184560	ENST00000333870	T	0.39056	1.1	3.51	3.51	0.40186	.	0.145422	0.31589	N	0.007383	T	0.50205	0.1602	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52563	-0.8559	10	0.87932	D	0	0.0672	10.8416	0.46720	0.0:1.0:0.0:0.0	.	241	Q0P670	CQ074_HUMAN	C	241	ENSP00000328061:R241C	ENSP00000328061:R241C	R	+	1	0	C17orf74	7270755	0.638000	0.27225	0.996000	0.52242	0.902000	0.53008	0.813000	0.27225	2.248000	0.74166	0.491000	0.48974	CGC		0.642	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		47	194	0	0	0	1	0	47	194				
DNAH17	8632	broad.mit.edu	37	17	76565528	76565528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76565528C>A	ENST00000585328.1	-	8	1250	c.1126G>T	c.(1126-1128)Gct>Tct	p.A376S	DNAH17_ENST00000389840.5_Missense_Mutation_p.A376S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	376	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACATTTACAGCCAGGGAGATG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1126-1128)Gct>Tct		dynein, axonemal, heavy chain 17							86.0	63.0	71.0					17																	76565528		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76565528C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1126G>T	17.37:g.76565528C>A	ENSP00000465516:p.Ala376Ser					DNAH17_ENST00000585328.1_Missense_Mutation_p.A376S	p.A376S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	1250	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1126G>T		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.696638	0.00725	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55052	0.54	4.65	2.34	0.29019	.	0.538685	0.15187	N	0.275778	T	0.31796	0.0808	N	0.12502	0.225	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.19128	-1.0315	10	0.12430	T	0.62	.	11.712	0.51630	0.4394:0.5606:0.0:0.0	.	78	Q9UFH2-4	.	S	376	ENSP00000374490:A376S	ENSP00000300671:A376S	A	-	1	0	DNAH17	74077123	0.391000	0.25221	0.521000	0.27850	0.023000	0.10783	0.593000	0.23999	0.163000	0.19507	-0.410000	0.06199	GCT		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		18	83	1	0	5.35267e-07	1	5.54261e-07	18	83				
DHRSX	207063	broad.mit.edu	37	X	2139202	2139202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2139202G>A	ENST00000334651.5	-	7	925	c.873C>T	c.(871-873)ggC>ggT	p.G291G		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	291							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATAGGTAATGGCCACCAACTC	0.532																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(871-873)ggC>ggT		dehydrogenase/reductase (SDR family) X-linked							269.0	236.0	247.0					X																	2139202		2203	4296	6499	SO:0001819	synonymous_variant	207063						binding|oxidoreductase activity	g.chrX:2139202G>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.873C>T	X.37:g.2139202G>A							p.G291G	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			7	925	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	291					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	37	c.873C>T	CCDS35195.1																																																																																				0.532	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		94	286	0	0	0	1	0	94	286				
DNAJC5B	85479	broad.mit.edu	37	8	66989029	66989029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66989029C>T	ENST00000276570.5	+	4	541	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	85						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTACGGATCGCTGGGACTC	0.463																																						ENST00000276570.5																			0				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(253-255)tCg>tTg		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							189.0	157.0	168.0					8																	66989029		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66989029C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.254C>T	8.37:g.66989029C>T	ENSP00000276570:p.Ser85Leu					DNAJC5B_ENST00000519330.1_3'UTR	p.S85L	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		4	541	+		Lung NSC(129;0.114)|all_lung(136;0.188)	85					Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.254C>T	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333965	0.95758	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.72725	-0.68;-0.68	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.86602	0.5972	M	0.90425	3.115	0.80722	D	1	D	0.69078	0.997	P	0.61658	0.892	D	0.88780	0.3270	10	0.87932	D	0	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	85	Q9UF47	DNJ5B_HUMAN	L	85	ENSP00000276570:S85L;ENSP00000430196:S85L	ENSP00000276570:S85L	S	+	2	0	DNAJC5B	67151583	1.000000	0.71417	0.964000	0.40570	0.818000	0.46254	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	TCG		0.463	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		23	704	0	0	0	1	0	23	704				
EIF4ENIF1	56478	broad.mit.edu	37	22	31835923	31835923	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31835923G>A	ENST00000397525.1	-	19	3124	c.2901C>T	c.(2899-2901)ccC>ccT	p.P967P	EIF4ENIF1_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P|EIF4ENIF1_ENST00000382180.2_Silent_p.P622P|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Silent_p.P943P	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	967						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGAGGGCAGGGGTTGCTGTA	0.592																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2899-2901)ccC>ccT		eukaryotic translation initiation factor 4E nuclear import factor 1							102.0	83.0	89.0					22																	31835923		2203	4300	6503	SO:0001819	synonymous_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31835923G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2901C>T	22.37:g.31835923G>A						EIF4ENIF1_ENST00000382180.2_Silent_p.P622P|EIF4ENIF1_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000397523.1_Silent_p.P943P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P	p.P967P	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			19	3124	-			967					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	c.2901C>T	CCDS13898.1																																																																																				0.592	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		58	312	0	0	0	1	0	58	312				
ABCC6P1	653190	broad.mit.edu	37	16	18604006	18604006	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18604006C>T	ENST00000546162.2	+	0	1349					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		GATGAGGCTGCGGTCGGCCAT	0.582																																						ENST00000546162.2																			0																																																			0							g.chr16:18604006C>T	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18604006C>T								NR_003569.1						0	1349	+									RNA	SNP	ENST00000546162.2	37																																																																																						0.582	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		38	248	0	0	0	1	0	38	248				
VPS13D	55187	broad.mit.edu	37	1	12368655	12368655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368655G>A	ENST00000358136.3	+	27	6737	c.6607G>A	c.(6607-6609)Gag>Aag	p.E2203K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCTTAACCGAGCCTTGTAG	0.468																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6607-6609)Gag>Aag		vacuolar protein sorting 13 homolog D (S. cerevisiae)							143.0	141.0	142.0					1																	12368655		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12368655G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6607G>A	1.37:g.12368655G>A	ENSP00000350854:p.Glu2203Lys					VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	p.E2203K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	27	6737	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2203						Missense_Mutation	SNP	ENST00000358136.3	37	c.6607G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566759	0.96540	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	.	0.052127	0.85682	D	0.000000	T	0.64271	0.2583	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.913	T	0.56962	-0.7892	10	0.27082	T	0.32	.	19.6382	0.95746	0.0:0.0:1.0:0.0	.	2203;2203	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2203	ENSP00000348666:E2203K;ENSP00000350854:E2203K	ENSP00000348666:E2203K	E	+	1	0	VPS13D	12291242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.636000	0.89361	0.650000	0.86243	GAG		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		64	555	0	0	0	1	0	64	555				
SPHKAP	80309	broad.mit.edu	37	2	228884503	228884503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228884503G>A	ENST00000392056.3	-	7	1113	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	356						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACAGCACATGCAGAAGGTAC	0.433																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1066-1068)gCa>gTa		SPHK1 interactor, AKAP domain containing							147.0	133.0	137.0					2																	228884503		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884503G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1067C>T	2.37:g.228884503G>A	ENSP00000375909:p.Ala356Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	p.A356V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1113	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	356					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1067C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005323	0.02112	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10960	2.82;2.82	5.79	2.54	0.30619	.	0.779787	0.12023	N	0.506731	T	0.05410	0.0143	N	0.16066	0.365	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.002;0.009	T	0.44922	-0.9296	10	0.15066	T	0.55	.	4.9752	0.14136	0.3529:0.1553:0.4918:0.0	.	356;356	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	356	ENSP00000375909:A356V;ENSP00000339886:A356V	ENSP00000339886:A356V	A	-	2	0	SPHKAP	228592747	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.351000	0.20096	0.755000	0.32990	0.655000	0.94253	GCA		0.433	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		216	543	0	0	0	1	0	216	543				
NCKAP1L	3071	broad.mit.edu	37	12	54905762	54905762	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54905762A>G	ENST00000293373.6	+	9	893	c.814A>G	c.(814-816)Aac>Gac	p.N272D	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	272					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGGTGCCTCAACTCCAATAG	0.483																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(814-816)Aac>Gac		NCK-associated protein 1-like							152.0	136.0	142.0					12																	54905762		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54905762A>G	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.814A>G	12.37:g.54905762A>G	ENSP00000293373:p.Asn272Asp					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D|NCKAP1L_ENST00000552211.1_3'UTR	p.N272D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			9	893	+			272					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.814A>G	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149071	0.57151	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	.	0.048494	0.85682	N	0.000000	T	0.44850	0.1313	L	0.45581	1.43	0.42139	D	0.991505	D	0.69078	0.997	D	0.80764	0.994	T	0.26052	-1.0114	10	0.12103	T	0.63	-15.1548	13.8042	0.63220	1.0:0.0:0.0:0.0	.	272	P55160	NCKPL_HUMAN	D	272;222	ENSP00000293373:N272D;ENSP00000445596:N222D	ENSP00000293373:N272D	N	+	1	0	NCKAP1L	53192029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.967000	0.63722	2.153000	0.67306	0.456000	0.33151	AAC		0.483	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		83	356	0	0	0	1	0	83	356				
INSC	387755	broad.mit.edu	37	11	15134050	15134050	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134050G>T	ENST00000379554.3	+	1	81	c.35G>T	c.(34-36)aGc>aTc	p.S12I	INSC_ENST00000424273.1_5'Flank|INSC_ENST00000379556.3_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	12					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGGCGGCCAGCGAAGGTCCA	0.607																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(34-36)aGc>aTc		inscuteable homolog (Drosophila)							48.0	64.0	59.0					11																	15134050		1987	4147	6134	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15134050G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.35G>T	11.37:g.15134050G>T	ENSP00000368872:p.Ser12Ile						p.S12I	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			1	81	+			12					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.35G>T	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	6.506	0.461602	0.12342	.	.	ENSG00000188487	ENST00000379554	T	0.34275	1.37	3.54	3.54	0.40534	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.40179	D	0.977264	B	0.23735	0.09	B	0.34242	0.178	T	0.19451	-1.0305	9	0.72032	D	0.01	-2.209	10.9193	0.47154	0.0:0.0:1.0:0.0	.	12	Q1MX18	INSC_HUMAN	I	12	ENSP00000368872:S12I	ENSP00000368872:S12I	S	+	2	0	INSC	15090626	0.005000	0.15991	0.241000	0.24154	0.030000	0.12068	1.569000	0.36428	2.274000	0.75844	0.561000	0.74099	AGC		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		35	212	1	0	6.70999e-13	1	7.22283e-13	35	212				
GCSAML	148823	broad.mit.edu	37	1	247737654	247737654	+	Missense_Mutation	SNP	G	G	T	rs577619243	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247737654G>T	ENST00000366488.4	+	5	482	c.378G>T	c.(376-378)gaG>gaT	p.E126D	GCSAML_ENST00000536561.1_Missense_Mutation_p.E106D|GCSAML_ENST00000527541.1_Missense_Mutation_p.E94D|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527084.1_Missense_Mutation_p.E94D|GCSAML_ENST00000366491.2_Missense_Mutation_p.E106D|GCSAML_ENST00000366489.1_Missense_Mutation_p.E106D|GCSAML_ENST00000463359.1_Missense_Mutation_p.E94D	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	126																	GCACCCATGAGCATGATTATG	0.438																																						ENST00000366491.2																			0											c.(316-318)gaG>gaT		germinal center-associated, signaling and motility-like							146.0	125.0	132.0					1																	247737654		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737654G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.378G>T	1.37:g.247737654G>T	ENSP00000355444:p.Glu126Asp					GCSAML_ENST00000527084.1_Missense_Mutation_p.E94D|GCSAML_ENST00000463359.1_Missense_Mutation_p.E94D|GCSAML_ENST00000366489.1_Missense_Mutation_p.E106D|GCSAML_ENST00000527541.1_Missense_Mutation_p.E94D|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366488.4_Missense_Mutation_p.E126D|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.E106D	p.E106D							7	815	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.318G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114676	0.56505	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	-2.51	0.06365	.	0.572447	0.14497	N	0.315986	T	0.40473	0.1118	M	0.70275	2.135	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.37150	-0.9718	9	0.36615	T	0.2	-0.8533	7.4128	0.27027	0.0:0.449:0.2471:0.3039	.	126	Q5JQS6	CA150_HUMAN	D	94;94;106;106;94;126;106	.	ENSP00000355444:E126D	E	+	3	2	C1orf150	245804277	0.018000	0.18449	0.004000	0.12327	0.356000	0.29392	-0.718000	0.04980	-0.221000	0.09973	0.591000	0.81541	GAG		0.438	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		110	328	1	0	9.53166e-59	1	1.196e-58	110	328				
AIM1	202	broad.mit.edu	37	6	106967596	106967596	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106967596T>C	ENST00000369066.3	+	2	1776	c.1289T>C	c.(1288-1290)aTc>aCc	p.I430T		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACAAGACATCCCCACCACT	0.483																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(1288-1290)aTc>aCc		absent in melanoma 1							103.0	97.0	99.0					6																	106967596		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967596T>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1289T>C	6.37:g.106967596T>C	ENSP00000358062:p.Ile430Thr						p.I430T	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	1776	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	430					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.1289T>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752937	0.31046	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71461	-0.57	5.84	-7.45	0.01374	.	1.852220	0.02798	N	0.122911	T	0.25457	0.0619	N	0.25647	0.755	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.07966	-1.0745	10	0.09590	T	0.72	.	6.5901	0.22642	0.1018:0.1453:0.5885:0.1644	.	430	Q9Y4K1	AIM1_HUMAN	T	838;430	ENSP00000358062:I430T	ENSP00000285105:I838T	I	+	2	0	AIM1	107074289	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.901000	0.04093	-0.506000	0.06558	0.533000	0.62120	ATC		0.483	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			83	349	0	0	0	1	0	83	349				
P2RY8	286530	broad.mit.edu	37	X	1584758	1584758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1584758G>A	ENST00000381297.4	-	2	904	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCGCCTCCGCTGCTCCCGG	0.662			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(694-696)Cgg>Tgg		purinergic receptor P2Y, G-protein coupled, 8							46.0	35.0	39.0					X																	1584758		2203	4293	6496	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584758G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.694C>T	X.37:g.1584758G>A	ENSP00000370697:p.Arg232Trp						p.R232W	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	904	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	232						Missense_Mutation	SNP	ENST00000381297.4	37	c.694C>T	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.539099	0.27475	.	.	ENSG00000182162	ENST00000381297	T	0.73152	-0.72	2.73	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.370473	0.22113	U	0.064443	T	0.64875	0.2638	L	0.31476	0.935	0.09310	N	1	D	0.76494	0.999	P	0.60473	0.875	T	0.60073	-0.7334	10	0.87932	D	0	.	4.8963	0.13751	0.0:0.2182:0.2192:0.5626	.	232	Q86VZ1	P2RY8_HUMAN	W	232	ENSP00000370697:R232W	ENSP00000370697:R232W	R	-	1	2	P2RY8	1544758	0.901000	0.30685	0.008000	0.14137	0.500000	0.33767	0.669000	0.25142	-0.839000	0.04212	0.279000	0.19357	CGG		0.662	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		10	153	0	0	0	1	0	10	153				
HTT	3064	broad.mit.edu	37	4	3142376	3142376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3142376A>C	ENST00000355072.5	+	22	3083	c.2938A>C	c.(2938-2940)Ata>Cta	p.I980L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	980					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGTCAGCACAATAACCAGGTA	0.443																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(2938-2940)Ata>Cta		huntingtin							89.0	89.0	89.0					4																	3142376		2108	4240	6348	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3142376A>C	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2938A>C	4.37:g.3142376A>C	ENSP00000347184:p.Ile980Leu						p.I980L	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	22	3083	+		all_epithelial(65;0.18)	980					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2938A>C	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612991	0.28712	.	.	ENSG00000197386	ENST00000355072	T	0.63580	-0.05	4.97	1.25	0.21368	Armadillo-type fold (1);	0.047013	0.85682	D	0.000000	T	0.47728	0.1461	L	0.38175	1.15	0.46078	D	0.998853	B	0.21225	0.053	B	0.20184	0.028	T	0.35500	-0.9786	10	0.42905	T	0.14	.	9.0413	0.36319	0.8028:0.0:0.1972:0.0	.	980	P42858	HD_HUMAN	L	980	ENSP00000347184:I980L	ENSP00000347184:I980L	I	+	1	0	HTT	3112174	0.985000	0.35326	0.569000	0.28460	0.964000	0.63967	2.603000	0.46266	0.337000	0.23665	0.533000	0.62120	ATA		0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		44	202	0	0	0	1	0	44	202				
DENND4A	10260	broad.mit.edu	37	15	65962264	65962264	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65962264C>A	ENST00000431932.2	-	26	4717		c.e26-1		DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAGAAAGTATCTGTAATGTGA	0.378																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.e27-1		DENN/MADD domain containing 4A							139.0	131.0	134.0					15																	65962264		1854	4093	5947	SO:0001630	splice_region_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65962264C>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4509-1G>T	15.37:g.65962264C>A						DENND4A_ENST00000431932.2_Splice_Site		NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			27	4853	-								E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	ENST00000431932.2	37		CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747899	0.89663	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63749318	0.994000	0.37717	1.000000	0.80357	0.901000	0.52897	3.405000	0.52630	2.937000	0.99478	0.650000	0.86243	.		0.378	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Intron	47	182	1	0	1.51926e-22	1	1.72e-22	47	182				
HSD3B7	80270	broad.mit.edu	37	16	30996963	30996963	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30996963C>T	ENST00000297679.5	+	2	87				AC135048.1_ENST00000602217.1_Missense_Mutation_p.D191N|HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000262520.6_5'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCCAAGGTCTCTTCCCCAG	0.657																																						ENST00000602217.1																			0											c.(571-573)Gac>Aac									25.0	27.0	26.0					16																	30996963		2195	4300	6495	SO:0001627	intron_variant	0							g.chr16:30996963C>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.-6-11C>T	16.37:g.30996963C>T						HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000297679.5_Intron|HSD3B7_ENST00000262520.6_5'UTR	p.D191N							1	570	-								Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.571G>A	CCDS10698.1																																																																																				0.657	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			15	54	0	0	0	1	0	15	54				
PPP3CA	5530	broad.mit.edu	37	4	101947056	101947056	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:101947056T>C	ENST00000394854.3	-	14	2215	c.1532A>G	c.(1531-1533)gAc>gGc	p.D511G	PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	511					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCATTGCTGTCCGTGCCGTT	0.458																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1531-1533)gAc>gGc		protein phosphatase 3, catalytic subunit, alpha isozyme							275.0	254.0	261.0					4																	101947056		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947056T>C		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1532A>G	4.37:g.101947056T>C	ENSP00000378323:p.Asp511Gly					PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G	p.D511G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2215	-			511					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1532A>G	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055917	0.36277	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.47528	0.84;2.42;2.37;2.41;2.18;2.44	6.06	6.06	0.98353	.	0.055071	0.64402	D	0.000001	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P;P;B;B	0.40534	0.455;0.72;0.455;0.59;0.247;0.247	B;B;B;B;B;B	0.43536	0.114;0.423;0.163;0.228;0.125;0.163	T	0.16958	-1.0385	10	0.09843	T	0.71	-11.4256	16.6154	0.84909	0.0:0.0:0.0:1.0	.	511;279;459;501;413;444	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	G	279;511;459;501;413;444	ENSP00000422781:D279G;ENSP00000378323:D511G;ENSP00000320580:D459G;ENSP00000378322:D501G;ENSP00000422990:D413G;ENSP00000429350:D444G	ENSP00000320580:D459G	D	-	2	0	PPP3CA	102166079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.315000	0.78130	0.533000	0.62120	GAC		0.458	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		163	746	0	0	0	1	0	163	746				
PHF12	57649	broad.mit.edu	37	17	27238239	27238239	+	Silent	SNP	G	G	A	rs143319936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27238239G>A	ENST00000332830.4	-	10	2916	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.P702P	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAACGTGCCGGGGCTGACCT	0.557																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2104-2106)ccC>ccT		PHD finger protein 12		G		0,4406		0,0,2203	154.0	124.0	134.0		2106	4.6	1.0	17	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PHF12	NM_001033561.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		702/1005	27238239	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27238239G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2106C>T	17.37:g.27238239G>A						PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.P702P	p.P702P			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		10	2452	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		702			Interaction with SIN3A.			Silent	SNP	ENST00000332830.4	37	c.2106C>T	CCDS32598.1																																																																																				0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		51	202	0	0	0	1	0	51	202				
LRRC8D	55144	broad.mit.edu	37	1	90399638	90399638	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399638C>T	ENST00000337338.5	+	3	1418	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	LRRC8D_ENST00000394593.3_Silent_p.H337H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	337					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCTTTGAACACGTCTGCAAGC	0.383																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1009-1011)caC>caT		leucine rich repeat containing 8 family, member D							93.0	93.0	93.0					1																	90399638		2203	4299	6502	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90399638C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1011C>T	1.37:g.90399638C>T						LRRC8D_ENST00000394593.3_Silent_p.H337H	p.H337H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1418	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	337					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1011C>T	CCDS726.1																																																																																				0.383	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		95	467	0	0	0	1	0	95	467				
ASTN1	460	broad.mit.edu	37	1	176992614	176992614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992614C>T	ENST00000367654.3	-	7	1575	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	455					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGGTCCGCTGGAGTTCTG	0.647																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1363-1365)aGc>aAc		astrotactin 1							37.0	34.0	35.0					1																	176992614		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992614C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1364G>A	1.37:g.176992614C>T	ENSP00000356626:p.Ser455Asn					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N	p.S455N			O14525	ASTN1_HUMAN			7	1377	-			455					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1364G>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.509064	0.85282	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19806	2.12;2.53;2.53;2.12	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	L	0.29908	0.895	0.58432	D	0.999993	B;B;B	0.25667	0.131;0.05;0.05	B;B;B	0.24701	0.055;0.032;0.032	T	0.02539	-1.1144	10	0.66056	D	0.02	-19.3059	19.8914	0.96931	0.0:1.0:0.0:0.0	.	455;455;455	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	455	ENSP00000356629:S455N;ENSP00000354536:S455N;ENSP00000356626:S455N;ENSP00000395041:S455N	ENSP00000354536:S455N	S	-	2	0	ASTN1	175259237	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.766000	0.62279	2.813000	0.96785	0.655000	0.94253	AGC		0.647	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		34	75	0	0	0	1	0	34	75				
EXO1	9156	broad.mit.edu	37	1	242024727	242024727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242024727G>A	ENST00000366548.3	+	10	1557	c.964G>A	c.(964-966)Gct>Act	p.A322T	EXO1_ENST00000518483.1_Missense_Mutation_p.A322T|EXO1_ENST00000348581.5_Missense_Mutation_p.A322T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	322	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGATTCCATAGCTCTTCAAAT	0.308								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(964-966)Gct>Act	Editing and processing nucleases	exonuclease 1							76.0	77.0	77.0					1																	242024727		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242024727G>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.964G>A	1.37:g.242024727G>A	ENSP00000355506:p.Ala322Thr					EXO1_ENST00000348581.5_Missense_Mutation_p.A322T|EXO1_ENST00000518483.1_Missense_Mutation_p.A322T	p.A322T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		10	1557	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	322			Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.964G>A	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051702	0.93793	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.36520	1.25;1.25;1.25	4.95	4.95	0.65309	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.247249	0.39083	N	0.001461	T	0.64692	0.2621	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.966;0.989;0.952	T	0.70655	-0.4812	10	0.72032	D	0.01	-4.9476	18.1442	0.89649	0.0:0.0:1.0:0.0	.	322;322;322	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	322	ENSP00000355506:A322T;ENSP00000311873:A322T;ENSP00000430251:A322T	ENSP00000311873:A322T	A	+	1	0	EXO1	240091350	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.099000	0.94207	2.463000	0.83235	0.655000	0.94253	GCT		0.308	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		25	148	0	0	0	1	0	25	148				
SH3GL3	6457	broad.mit.edu	37	15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84257442C>T	ENST00000427482.2	+	8	1063	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000324537.5_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253	Interaction with ARC. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458																																						ENST00000324537.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(781-783)Cga>Tga		SH3-domain GRB2-like 3							131.0	96.0	108.0					15																	84257442		2203	4300	6503	SO:0001587	stop_gained	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84257442C>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.757C>T	15.37:g.84257442C>T	ENSP00000391372:p.Arg253*					SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000427482.2_Nonsense_Mutation_p.R253*	p.R261*			Q99963	SH3G3_HUMAN			11	1273	+			253					O43553|O43554	Nonsense_Mutation	SNP	ENST00000427482.2	37	c.781C>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	41	9.023893	0.99040	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	.	.	.	4.34	1.3	0.21679	.	0.307812	0.31134	N	0.008189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6336	10.1325	0.42687	0.5339:0.4661:0.0:0.0	.	.	.	.	X	253;253;261;261	.	ENSP00000320092:R261X	R	+	1	2	SH3GL3	82048446	0.496000	0.26059	0.002000	0.10522	0.992000	0.81027	0.776000	0.26704	0.302000	0.22762	0.655000	0.94253	CGA		0.458	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		29	162	0	0	0	1	0	29	162				
IGHA1	3493	broad.mit.edu	37	14	106173701	106173701	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106173701G>A	ENST00000390547.2	-	0	865				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GAAGGTGGTGGTGCCCTGGCT	0.667																																						ENST00000390547.2																			0																				54.0	86.0	75.0					14																	106173701		2117	4250	6367			0							g.chr14:106173701G>A	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173701G>A														0	865	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.667	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		48	412	0	0	0	1	0	48	412				
MBNL2	10150	broad.mit.edu	37	13	97928576	97928576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:97928576C>T	ENST00000376673.3	+	2	868	c.87C>T	c.(85-87)cgC>cgT	p.R29R	MBNL2_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000345429.6_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	29					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CATGCTCACGCTCTGATGAAG	0.423																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(85-87)cgC>cgT		muscleblind-like splicing regulator 2							151.0	139.0	143.0					13																	97928576		2203	4300	6503	SO:0001819	synonymous_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97928576C>T	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.87C>T	13.37:g.97928576C>T						MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000376673.3_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R	p.R29R	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		2	868	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		29					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	37	c.87C>T																																																																																					0.423	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		100	548	0	0	0	1	0	100	548				
MUC4	4585	broad.mit.edu	37	3	195486010	195486010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195486010C>T	ENST00000346145.4	-	16	2302	c.2263G>A	c.(2263-2265)Gac>Aac	p.D755N	MUC4_ENST00000463781.3_Missense_Mutation_p.D4991N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N|MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1748					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTCCAAGTCGGTGCAGCTG	0.532																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(14971-14973)Gac>Aac		mucin 4, cell surface associated							238.0	233.0	235.0					3																	195486010		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195486010C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2263G>A	3.37:g.195486010C>T	ENSP00000304207:p.Asp755Asn					MUC4_ENST00000346145.4_Missense_Mutation_p.D755N|MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N	p.D4991N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	17	15430	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1748					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14971G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	9.154	1.017007	0.19355	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38560	1.13;1.49;1.48;1.45	4.39	1.54	0.23209	.	1.090690	0.07014	N	0.825628	T	0.32041	0.0816	L	0.52364	1.645	0.09310	N	1	P;P;P;P;P;P	0.49253	0.663;0.469;0.469;0.58;0.58;0.921	B;B;B;B;B;B	0.39217	0.153;0.069;0.069;0.056;0.056;0.294	T	0.24225	-1.0166	10	0.34782	T	0.22	-8.7228	3.1604	0.06518	0.2124:0.5678:0.0:0.2198	.	4863;704;755;4991;4939;1696	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	N	704;755;4991;4939;1491	ENSP00000338109:D704N;ENSP00000304207:D755N;ENSP00000417498:D4991N;ENSP00000420243:D4939N	ENSP00000304207:D755N	D	-	1	0	MUC4	196971681	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.222000	0.17699	0.571000	0.29365	0.450000	0.29827	GAC		0.532	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		279	1205	0	0	0	1	0	279	1205				
TNS1	7145	broad.mit.edu	37	2	218757686	218757686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218757686C>A	ENST00000171887.4	-	9	844	c.392G>T	c.(391-393)aGc>aTc	p.S131I	TNS1_ENST00000430930.1_Missense_Mutation_p.S131I|TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000419504.1_Missense_Mutation_p.S131I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	131	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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)		AGAAATGTTGCTGTAGTGCAT	0.542																																						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.(391-393)aGc>aTc		tensin 1							106.0	95.0	99.0					2																	218757686		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218757686C>A	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.392G>T	2.37:g.218757686C>A	ENSP00000171887:p.Ser131Ile					TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000419504.1_Missense_Mutation_p.S131I|TNS1_ENST00000430930.1_Missense_Mutation_p.S131I	p.S131I	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)	9	844	-		Renal(207;0.0483)|Lung NSC(271;0.213)	131			Phosphatase tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.392G>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179967	0.78564	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	4.5	4.5	0.54988	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	L	0.48642	1.525	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.994;0.902;1.0;0.998;0.998	D;D;P;D;D;P	0.85130	0.963;0.92;0.696;0.997;0.991;0.878	D	0.99816	1.1044	10	0.87932	D	0	.	17.3447	0.87307	0.0:1.0:0.0:0.0	.	131;185;162;131;131;131	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	I	131;131;131;256;199;162	ENSP00000171887:S131I;ENSP00000408724:S131I;ENSP00000406016:S131I;ENSP00000405460:S256I;ENSP00000400383:S199I;ENSP00000308321:S162I	ENSP00000171887:S131I	S	-	2	0	TNS1	218465931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.563000	0.60823	2.486000	0.83907	0.563000	0.77884	AGC		0.542	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		53	227	1	0	4.6707e-30	1	5.47058e-30	53	227				
MYO15A	51168	broad.mit.edu	37	17	18065967	18065967	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18065967A>G	ENST00000205890.5	+	58	9924	c.9586A>G	c.(9586-9588)Agc>Ggc	p.S3196G	MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000418233.3_Missense_Mutation_p.S460G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3196	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGCTCCCCAGCAGCATAGA	0.597																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9586-9588)Agc>Ggc		myosin XVA							39.0	40.0	40.0					17																	18065967		1944	4141	6085	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18065967A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9586A>G	17.37:g.18065967A>G	ENSP00000205890:p.Ser3196Gly					MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000418233.3_Missense_Mutation_p.S460G	p.S3196G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			58	9924	+	all_neural(463;0.228)		3196			MyTH4 2.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9586A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710290	0.48517	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.92752	-3.1;-3.1;-3.1	4.94	3.86	0.44501	MyTH4 domain (3);	.	.	.	.	D	0.92675	0.7672	M	0.89715	3.055	0.44024	D	0.996748	B;B;B;B;B;B	0.26602	0.062;0.067;0.014;0.046;0.083;0.154	B;B;B;B;B;B	0.31016	0.123;0.058;0.021;0.028;0.036;0.066	D	0.89101	0.3489	9	0.36615	T	0.2	.	10.4867	0.44726	0.9226:0.0:0.0774:0.0	.	88;185;460;3196;118;203	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	G	3196;185;150;88;88	ENSP00000205890:S3196G;ENSP00000451782:S150G;ENSP00000409098:S88G	ENSP00000205890:S3196G	S	+	1	0	MYO15A	18006692	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.939000	0.70179	0.732000	0.32470	0.374000	0.22700	AGC		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	200	0	0	0	1	0	12	200				
LRP1	4035	broad.mit.edu	37	12	57587714	57587714	+	Missense_Mutation	SNP	C	C	T	rs367968116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587714C>T	ENST00000243077.3	+	48	8303	c.7837C>T	c.(7837-7839)Cgg>Tgg	p.R2613W	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2613	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTTCCGCTGCCGGGACGGGAC	0.607																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7837-7839)Cgg>Tgg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	C	TRP/ARG	0,4406		0,0,2203	97.0	89.0	92.0		7837	4.2	1.0	12		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2613/4545	57587714	1,13005	2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587714C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7837C>T	12.37:g.57587714C>T	ENSP00000243077:p.Arg2613Trp						p.R2613W	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	48	8303	+			2613			LDL-receptor class A 13.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7837C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803636	0.50315	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.95690	-3.78	5.09	4.19	0.49359	.	0.164278	0.37261	N	0.002175	D	0.96617	0.8896	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	D	0.96868	0.9637	10	0.66056	D	0.02	.	14.7368	0.69422	0.0:0.8543:0.1457:0.0	.	2613	Q07954	LRP1_HUMAN	W	2613	ENSP00000243077:R2613W	ENSP00000243077:R2613W	R	+	1	2	LRP1	55873981	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	1.355000	0.34068	1.368000	0.46115	0.650000	0.86243	CGG		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		50	247	0	0	0	1	0	50	247				
PRSS16	10279	broad.mit.edu	37	6	27222471	27222471	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222471G>T	ENST00000230582.3	+	10	1165		c.e10-1		PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)						protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCCTACACAGATGTCACCTG	0.502																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.e10-1		protease, serine, 16 (thymus)							115.0	108.0	110.0					6																	27222471		2203	4300	6503	SO:0001630	splice_region_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222471G>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1151-1G>T	6.37:g.27222471G>T						PRSS16_ENST00000421826.2_Splice_Site|PRSS16_ENST00000377456.2_Intron		NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1165	+								O75416	Splice_Site	SNP	ENST00000230582.3	37		CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378242	0.61735	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000485993;ENST00000475106	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.307	0.60357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS16	27330450	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.274000	0.58921	2.607000	0.88179	0.557000	0.71058	.		0.502	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		Intron	95	514	1	0	4.22592e-57	1	5.29123e-57	95	514				
APOBEC3B	9582	broad.mit.edu	37	22	39387493	39387493	+	Missense_Mutation	SNP	C	C	T	rs374260464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39387493C>T	ENST00000333467.3	+	6	925	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R294C|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C|APOBEC3B-AS1_ENST00000513758.2_RNA	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	294					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CGGGGAAGTGCGTGCGTTCCT	0.582																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(880-882)Cgt>Tgt		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							102.0	103.0	103.0					22																	39387493		2198	4283	6481	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387493C>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.880C>T	22.37:g.39387493C>T	ENSP00000327459:p.Arg294Cys					APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R294C	p.R294C			Q9UH17	ABC3B_HUMAN			6	935	+	Melanoma(58;0.04)		294					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.880C>T	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	3.119	-0.181057	0.06380	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66638	-0.22;-0.22;-0.22	2.0	-3.51	0.04696	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.52125	0.1715	L	0.55743	1.74	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.48352	-0.9043	9	0.72032	D	0.01	.	0.9054	0.01283	0.2574:0.3452:0.2302:0.1673	.	269;294	B0QYD2;Q9UH17	.;ABC3B_HUMAN	C	269;294;294	ENSP00000385068:R269C;ENSP00000385060:R294C;ENSP00000327459:R294C	ENSP00000327459:R294C	R	+	1	0	APOBEC3B	37717439	0.197000	0.23362	0.000000	0.03702	0.000000	0.00434	0.362000	0.20284	-0.801000	0.04427	-1.842000	0.00583	CGT		0.582	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		22	1045	0	0	0	1	0	22	1045				
CDC42BPG	55561	broad.mit.edu	37	11	64594559	64594559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64594559G>T	ENST00000342711.5	-	34	4351	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCCGTTGGCAGGGCCCACGTG	0.607																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4351-4353)cCt>cAt		CDC42 binding protein kinase gamma (DMPK-like)							98.0	90.0	92.0					11																	64594559		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594559G>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4352C>A	11.37:g.64594559G>T	ENSP00000345133:p.Pro1451His						p.P1451H	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			34	4351	-			1451						Missense_Mutation	SNP	ENST00000342711.5	37	c.4352C>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596832	0.66332	.	.	ENSG00000171219	ENST00000342711	D	0.84442	-1.85	5.0	4.09	0.47781	.	0.646706	0.13776	N	0.363588	D	0.90724	0.7089	M	0.82716	2.605	0.45704	D	0.998617	D	0.65815	0.995	P	0.57244	0.816	D	0.90315	0.4340	10	0.87932	D	0	.	11.5066	0.50471	0.0884:0.0:0.9116:0.0	.	1451	Q6DT37	MRCKG_HUMAN	H	1451	ENSP00000345133:P1451H	ENSP00000345133:P1451H	P	-	2	0	CDC42BPG	64351135	1.000000	0.71417	0.408000	0.26446	0.322000	0.28314	6.173000	0.71937	1.247000	0.43917	0.561000	0.74099	CCT		0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		17	579	1	0	1.67942e-08	1	1.75525e-08	17	579				
MAP2	4133	broad.mit.edu	37	2	210559440	210559440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559440C>T	ENST00000360351.4	+	7	3052	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	MAP2_ENST00000447185.1_Missense_Mutation_p.P845L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	849					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P849R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGCTTGCCCCCGGTAACTGAT	0.493																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			1	Substitution - Missense(1)	p.P849R(1)	endometrium(1)	breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2545-2547)cCg>cTg		microtubule-associated protein 2	Estramustine(DB01196)						91.0	90.0	90.0					2																	210559440		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559440C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2546C>T	2.37:g.210559440C>T	ENSP00000353508:p.Pro849Leu					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P845L|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.P849L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3052	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	849					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2546C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.823059	0.16678	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28666	1.6;1.6	5.8	5.8	0.92144	MAP2/Tau projection (1);	0.331465	0.26293	N	0.025204	T	0.24890	0.0604	L	0.47716	1.5	0.21020	N	0.99981	P;P	0.36535	0.501;0.557	B;B	0.28784	0.057;0.094	T	0.22173	-1.0224	10	0.25751	T	0.34	-4.4034	14.2421	0.65963	0.0:0.9289:0.0:0.0711	.	845;849	P11137-3;P11137	.;MAP2_HUMAN	L	849;845	ENSP00000353508:P849L;ENSP00000392164:P845L	ENSP00000353508:P849L	P	+	2	0	MAP2	210267685	0.000000	0.05858	0.876000	0.34364	0.459000	0.32528	1.142000	0.31540	2.752000	0.94435	0.650000	0.86243	CCG		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		10	537	0	0	0	1	0	10	537				
GPI	2821	broad.mit.edu	37	19	34887303	34887303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34887303G>A	ENST00000356487.5	+	13	1401	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D	GPI_ENST00000586425.1_Missense_Mutation_p.G387D|GPI_ENST00000415930.3_Missense_Mutation_p.G398D	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	387					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGGACCAATGGCCAGCATGCT	0.562																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1192-1194)gGc>gAc		glucose-6-phosphate isomerase							66.0	65.0	65.0					19																	34887303		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887303G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1160G>A	19.37:g.34887303G>A	ENSP00000348877:p.Gly387Asp					GPI_ENST00000586425.1_Missense_Mutation_p.G387D|GPI_ENST00000356487.5_Missense_Mutation_p.G387D	p.G398D	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			13	1363	+	Esophageal squamous(110;0.162)		387					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1193G>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419485	0.96111	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.92858	-3.12;-3.12	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.999	D;D;D;D	0.83275	0.994;0.995;0.994;0.996	D	0.96163	0.9117	10	0.87932	D	0	-10.4995	19.622	0.95660	0.0:0.0:1.0:0.0	.	359;398;360;387	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	D	398;387	ENSP00000405573:G398D;ENSP00000348877:G387D	ENSP00000348877:G387D	G	+	2	0	GPI	39579143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.792000	0.99085	2.647000	0.89833	0.555000	0.69702	GGC		0.562	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			62	277	0	0	0	1	0	62	277				
ZNF134	7693	broad.mit.edu	37	19	58132057	58132057	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58132057A>G	ENST00000396161.5	+	3	880	c.570A>G	c.(568-570)acA>acG	p.T190T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCAAAGACACACTTGTCCAGC	0.488																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(568-570)acA>acG		zinc finger protein 134							54.0	59.0	57.0					19																	58132057		2203	4299	6502	SO:0001819	synonymous_variant	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132057A>G	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.570A>G	19.37:g.58132057A>G							p.T190T	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	880	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	190					Q9Y4B2	Silent	SNP	ENST00000396161.5	37	c.570A>G	CCDS42638.1																																																																																				0.488	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		54	222	0	0	0	1	0	54	222				
SAMD9	54809	broad.mit.edu	37	7	92734599	92734599	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734599T>C	ENST00000379958.2	-	3	1081	c.812A>G	c.(811-813)tAt>tGt	p.Y271C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	271						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCTTCAAAATACTTGTTTAT	0.388																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(811-813)tAt>tGt		sterile alpha motif domain containing 9							151.0	148.0	149.0					7																	92734599		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734599T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.812A>G	7.37:g.92734599T>C	ENSP00000369292:p.Tyr271Cys						p.Y271C	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1081	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		271					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.812A>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204867	0.58234	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15718	2.4;2.4	4.34	4.34	0.51931	.	0.000000	0.56097	U	0.000039	T	0.34600	0.0903	L	0.54323	1.7	0.34310	D	0.68537	D	0.89917	1.0	D	0.75484	0.986	T	0.46247	-0.9205	10	0.44086	T	0.13	-9.2377	12.7423	0.57259	0.0:0.0:0.0:1.0	.	271	Q5K651	SAMD9_HUMAN	C	271	ENSP00000369292:Y271C;ENSP00000414529:Y271C	ENSP00000369292:Y271C	Y	-	2	0	SAMD9	92572535	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	3.483000	0.53194	1.948000	0.56530	0.491000	0.48974	TAT		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		45	454	0	0	0	1	0	45	454				
FAM13B	51306	broad.mit.edu	37	5	137289150	137289150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137289150G>A	ENST00000033079.3	-	15	2108	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*|FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	553					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GATGATCTTCGAATTCTGAAT	0.353																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1657-1659)Cga>Tga		family with sequence similarity 13, member B							115.0	111.0	112.0					5																	137289150		2203	4299	6502	SO:0001587	stop_gained	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137289150G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1657C>T	5.37:g.137289150G>A	ENSP00000033079:p.Arg553*					FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*|FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*	p.R553*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			15	2108	-			553					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Nonsense_Mutation	SNP	ENST00000033079.3	37	c.1657C>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	41	9.156967	0.99084	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9213	13.6288	0.62183	0.0:0.0:0.8451:0.1549	.	.	.	.	X	553;457;553	.	ENSP00000033079:R553X	R	-	1	2	FAM13B	137317049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.454000	0.52986	2.403000	0.81681	0.585000	0.79938	CGA		0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			90	337	0	0	0	1	0	90	337				
GBX1	2636	broad.mit.edu	37	7	150864194	150864194	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150864194G>A	ENST00000297537.4	-	1	441	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	148	Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCTTCCAGCCCACCCTCT	0.701																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(442-444)Ctg>Ttg		gastrulation brain homeobox 1							18.0	23.0	21.0					7																	150864194		1863	4094	5957	SO:0001819	synonymous_variant	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150864194G>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.442C>T	7.37:g.150864194G>A						GBX1_ENST00000475831.1_5'UTR	p.L148L	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	441	-			148			Pro-rich.			Silent	SNP	ENST00000297537.4	37	c.442C>T	CCDS43682.1																																																																																				0.701	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			48	207	0	0	0	1	0	48	207				
ANKS1A	23294	broad.mit.edu	37	6	34937945	34937945	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34937945T>C	ENST00000360359.3	+	3	573		c.e3+2		ANKS1A_ENST00000535627.1_Splice_Site	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A						ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATGAACAGGTCGGAAGGAAG	0.527																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e3+2		ankyrin repeat and sterile alpha motif domain containing 1A							100.0	78.0	85.0					6																	34937945		2203	4300	6503	SO:0001630	splice_region_variant	23294					cytoplasm	protein binding	g.chr6:34937945T>C	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.435+2T>C	6.37:g.34937945T>C						ANKS1A_ENST00000535627.1_Splice_Site		NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			3	573	+								A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Splice_Site	SNP	ENST00000360359.3	37		CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026314	0.93518	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35045923	1.000000	0.71417	0.951000	0.38953	0.942000	0.58702	6.290000	0.72712	2.367000	0.80283	0.528000	0.53228	.		0.527	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478	Intron	43	169	0	0	0	1	0	43	169				
PARP11	57097	broad.mit.edu	37	12	3931121	3931121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3931121G>T	ENST00000228820.4	-	6	610	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000447133.3_Missense_Mutation_p.L75I|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	149	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCCAAAGAGATTAGCAACT	0.353																																						ENST00000228820.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17						c.(466-468)Ctc>Atc		poly (ADP-ribose) polymerase family, member 11							85.0	91.0	89.0					12																	3931121		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3931121G>T	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.466C>A	12.37:g.3931121G>T	ENSP00000228820:p.Leu156Ile					PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I|PARP11_ENST00000447133.3_Missense_Mutation_p.L75I	p.L156I	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		6	610	-			149			PARP catalytic.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.466C>A	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027327	0.54683	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.29	5.29	0.74685	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.068839	0.64402	D	0.000013	T	0.19604	0.0471	L	0.47716	1.5	0.43330	D	0.995366	P;P;P	0.44946	0.846;0.557;0.611	B;B;B	0.43658	0.426;0.295;0.419	T	0.01805	-1.1270	10	0.18710	T	0.47	.	16.457	0.84021	0.0:0.0:1.0:0.0	.	75;156;149	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	I	149;75;156;75	ENSP00000380284:L149I;ENSP00000397058:L75I;ENSP00000228820:L156I;ENSP00000405385:L75I	ENSP00000228820:L156I	L	-	1	0	PARP11	3801382	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.917000	0.63369	2.740000	0.93945	0.637000	0.83480	CTC		0.353	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			81	313	1	0	1.34917e-44	1	1.65118e-44	81	313				
COL28A1	340267	broad.mit.edu	37	7	7483263	7483263	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7483263C>A	ENST00000399429.3	-	20	1743	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	535	Collagen-like 4.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGGCCTCTTGCTCCCGGAAGC	0.527																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1603-1605)Gca>Tca		collagen, type XXVIII, alpha 1							79.0	76.0	77.0					7																	7483263		1936	4155	6091	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7483263C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1603G>T	7.37:g.7483263C>A	ENSP00000382356:p.Ala535Ser						p.A535S	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	20	1743	-		Ovarian(82;0.0789)	535			Collagen-like 4.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1603G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	4.153	0.026728	0.08054	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93426	-3.22	4.93	-4.71	0.03279	.	1.289190	0.05636	U	0.582550	D	0.82323	0.5012	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.27882	0.073;0.005;0.192	B;B;B	0.28638	0.055;0.01;0.092	T	0.70880	-0.4752	10	0.10111	T	0.7	0.9378	14.3921	0.66986	0.0:0.7642:0.0:0.2358	.	535;535;535	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	S	535	ENSP00000382356:A535S	ENSP00000382347:A535S	A	-	1	0	COL28A1	7449788	0.000000	0.05858	0.058000	0.19502	0.823000	0.46562	-0.681000	0.05191	-0.885000	0.03971	-0.345000	0.07892	GCA		0.527	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		49	180	1	0	2.01872e-29	1	2.35895e-29	49	180				
SUOX	6821	broad.mit.edu	37	12	56398461	56398461	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56398461A>G	ENST00000394109.3	+	3	2012	c.1288A>G	c.(1288-1290)Aca>Gca	p.T430A	SUOX_ENST00000548274.1_Missense_Mutation_p.T430A|SUOX_ENST00000356124.4_Missense_Mutation_p.T430A|IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000394115.2_Missense_Mutation_p.T430A|SUOX_ENST00000266971.3_Missense_Mutation_p.T430A			P51687	SUOX_HUMAN	sulfite oxidase	430	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GTCGGCCATCACAGAGCCCCG	0.557																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(1288-1290)Aca>Gca		sulfite oxidase							106.0	106.0	106.0					12																	56398461		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398461A>G	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1288A>G	12.37:g.56398461A>G	ENSP00000377668:p.Thr430Ala					SUOX_ENST00000266971.3_Missense_Mutation_p.T430A|SUOX_ENST00000394115.2_Missense_Mutation_p.T430A|SUOX_ENST00000356124.4_Missense_Mutation_p.T430A|SUOX_ENST00000548274.1_Missense_Mutation_p.T430A	p.T430A			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	2012	+			430			Molybdenum-pterin domain (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.1288A>G	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134990	0.56828	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.96	4.96	0.65561	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	L	0.42686	1.345	0.58432	D	0.999992	B	0.23249	0.082	B	0.27887	0.084	T	0.71045	-0.4706	10	0.15499	T	0.54	-12.6074	14.053	0.64749	1.0:0.0:0.0:0.0	.	430	P51687	SUOX_HUMAN	A	430	ENSP00000348440:T430A;ENSP00000266971:T430A;ENSP00000377674:T430A;ENSP00000450245:T430A;ENSP00000377668:T430A	ENSP00000266971:T430A	T	+	1	0	SUOX	54684728	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.278000	0.89899	2.221000	0.72209	0.383000	0.25322	ACA		0.557	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		13	306	0	0	0	1	0	13	306				
ADAM32	203102	broad.mit.edu	37	8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39111964C>T	ENST00000379907.4	+	18	2061	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L|ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	645	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1933-1935)tCg>tTg		ADAM metallopeptidase domain 32							48.0	46.0	47.0					8																	39111964		1831	4079	5910	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39111964C>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1934C>T	8.37:g.39111964C>T	ENSP00000369238:p.Ser645Leu					ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L|ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L	p.S645L	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		18	2061	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	645			EGF-like.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1934C>T	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573413	0.03882	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87491	-2.26;-2.26;-2.26	4.06	-7.54	0.01332	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	3.647890	0.01190	N	0.007305	T	0.80177	0.4575	M	0.66939	2.045	0.09310	N	1	P;P;B;B	0.52170	0.87;0.951;0.114;0.074	B;B;B;B	0.36092	0.101;0.217;0.011;0.031	T	0.75434	-0.3319	10	0.30078	T	0.28	.	5.7257	0.18013	0.5765:0.1463:0.0:0.2773	.	546;69;539;645	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	L	546;539;645	ENSP00000405978:S546L;ENSP00000429422:S539L;ENSP00000369238:S645L	ENSP00000369238:S645L	S	+	2	0	ADAM32	39231121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.431000	0.02432	-1.735000	0.01353	-0.314000	0.08810	TCG		0.363	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		9	64	0	0	0	1	0	9	64				
MAP7	9053	broad.mit.edu	37	6	136693712	136693712	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136693712G>A	ENST00000354570.3	-	8	1213	c.803C>T	c.(802-804)tCg>tTg	p.S268L	MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L|MAP7_ENST00000438100.2_Missense_Mutation_p.S253L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	268					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.S268L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCGATCCATCGAATTTCTAGA	0.512																																						ENST00000354570.3																			1	Substitution - Missense(1)	p.S268L(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(802-804)tCg>tTg		microtubule-associated protein 7							206.0	180.0	189.0					6																	136693712		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136693712G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.803C>T	6.37:g.136693712G>A	ENSP00000346581:p.Ser268Leu					MAP7_ENST00000438100.2_Missense_Mutation_p.S253L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L|MAP7_ENST00000432797.2_Missense_Mutation_p.S122L	p.S268L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	8	1213	-	Colorectal(23;0.24)		268					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.803C>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270146	0.23221	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.67	3.83	0.44106	.	0.763445	0.11544	N	0.553417	T	0.01523	0.0049	N	0.05351	-0.065	0.23082	N	0.998324	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.001;0.001;0.0	T	0.47222	-0.9134	10	0.27785	T	0.31	-0.12	11.0815	0.48062	0.1542:0.0:0.8458:0.0	.	253;290;253;290;290;174;231;268	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	L	268;290;253;253;122;174	ENSP00000346581:S268L;ENSP00000414712:S290L;ENSP00000445737:S253L;ENSP00000400790:S253L;ENSP00000414879:S122L	ENSP00000344217:S174L	S	-	2	0	MAP7	136735405	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	2.910000	0.48766	1.336000	0.45506	0.591000	0.81541	TCG		0.512	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		65	264	0	0	0	1	0	65	264				
E2F8	79733	broad.mit.edu	37	11	19259489	19259489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19259489G>A	ENST00000527884.1	-	3	438	c.206C>T	c.(205-207)gCt>gTt	p.A69V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.A69V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	69					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGCTCACAGCACTGATGAG	0.512																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(205-207)gCt>gTt		E2F transcription factor 8							195.0	200.0	198.0					11																	19259489		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19259489G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.206C>T	11.37:g.19259489G>A	ENSP00000434199:p.Ala69Val					RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.A69V	p.A69V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			3	438	-			69					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.206C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408560	0.96051	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.60672	0.87;0.87;0.17	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77197	-0.2676	10	0.66056	D	0.02	-15.7278	19.0694	0.93126	0.0:0.0:1.0:0.0	.	69	A0AVK6	E2F8_HUMAN	V	69	ENSP00000434199:A69V;ENSP00000250024:A69V;ENSP00000437326:A69V	ENSP00000250024:A69V	A	-	2	0	E2F8	19216065	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.777000	0.99008	2.654000	0.90174	0.655000	0.94253	GCT		0.512	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		188	829	0	0	0	1	0	188	829				
ZC3H12A	80149	broad.mit.edu	37	1	37948755	37948755	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37948755C>T	ENST00000373087.6	+	6	1459	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCAGATGTCGGAACTTTGG	0.647																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1342-1344)tCg>tTg		zinc finger CCCH-type containing 12A							25.0	30.0	28.0					1																	37948755		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948755C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1343C>T	1.37:g.37948755C>T	ENSP00000362179:p.Ser448Leu						p.S448L	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			6	1459	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	448						Missense_Mutation	SNP	ENST00000373087.6	37	c.1343C>T	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320778	0.81469	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.20598	2.06	5.52	5.52	0.82312	.	0.603852	0.16474	N	0.212828	T	0.45816	0.1361	M	0.68952	2.095	0.39404	D	0.966641	D;D	0.71674	0.998;0.985	D;P	0.64877	0.93;0.456	T	0.41662	-0.9496	10	0.72032	D	0.01	-19.643	17.6306	0.88106	0.0:1.0:0.0:0.0	.	243;448	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	L	448	ENSP00000362179:S448L	ENSP00000362174:S448L	S	+	2	0	ZC3H12A	37721342	0.974000	0.33945	1.000000	0.80357	0.950000	0.60333	2.423000	0.44705	2.579000	0.87056	0.561000	0.74099	TCG		0.647	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		64	272	0	0	0	1	0	64	272				
OR5B12	390191	broad.mit.edu	37	11	58207122	58207122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58207122C>A	ENST00000302572.2	-	1	524	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATTGGATCTACAGAAGGA	0.428																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(502-504)aGa>aTa		olfactory receptor, family 5, subfamily B, member 12							118.0	108.0	111.0					11																	58207122		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207122C>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.503G>T	11.37:g.58207122C>A	ENSP00000306657:p.Arg168Ile						p.R168I	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	524	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	168					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.503G>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117468	0.20877	.	.	ENSG00000172362	ENST00000302572	T	0.37058	1.22	4.3	-0.761	0.11038	GPCR, rhodopsin-like superfamily (1);	0.743067	0.12175	N	0.492642	T	0.27731	0.0682	L	0.48362	1.52	0.09310	N	1	B	0.31077	0.307	B	0.32342	0.144	T	0.21965	-1.0230	10	0.46703	T	0.11	-24.6222	6.1961	0.20550	0.0:0.3526:0.1345:0.5129	.	168	Q96R08	OR5BC_HUMAN	I	168	ENSP00000306657:R168I	ENSP00000306657:R168I	R	-	2	0	OR5B12	57963698	0.000000	0.05858	0.005000	0.12908	0.704000	0.40688	-0.318000	0.08050	-0.009000	0.14296	0.462000	0.41574	AGA		0.428	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		59	316	1	0	1.0442e-30	1	1.22599e-30	59	316				
DICER1	23405	broad.mit.edu	37	14	95590927	95590927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95590927C>A	ENST00000526495.1	-	10	1273	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	328	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCTGTAGTTCTCTTACCATC	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(982-984)Gaa>Taa		dicer 1, ribonuclease type III							95.0	94.0	94.0					14																	95590927		2203	4300	6503	SO:0001587	stop_gained	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590927C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.982G>T	14.37:g.95590927C>A	ENSP00000437256:p.Glu328*					DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*	p.E328*			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	10	1273	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	328			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	ENST00000526495.1	37	c.982G>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	41	8.909045	0.98998	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-27.7842	19.4888	0.95042	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000343745:E328X	E	-	1	0	DICER1	94660680	1.000000	0.71417	0.656000	0.29637	0.992000	0.81027	7.267000	0.78462	2.607000	0.88179	0.585000	0.79938	GAA		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			19	445	1	0	1.00905e-13	1	1.09121e-13	19	445				
USP6NL	9712	broad.mit.edu	37	10	11504924	11504924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11504924C>A	ENST00000609104.1	-	15	2397	c.2003G>T	c.(2002-2004)aGg>aTg	p.R668M	USP6NL_ENST00000379237.2_Missense_Mutation_p.R691M|USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	668					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATGAGGTCTCCTGGAAGGATT	0.532																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(2002-2004)aGg>aTg		USP6 N-terminal like							25.0	26.0	26.0					10																	11504924		1906	4127	6033	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11504924C>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2003G>T	10.37:g.11504924C>A	ENSP00000476462:p.Arg668Met					USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M	p.R668M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	2397	-			668					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.2003G>T	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575025	0.65878	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04603	3.59;3.59	6.17	6.17	0.99709	.	0.162898	0.42172	D	0.000760	T	0.14700	0.0355	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.63192	0.818;0.912	T	0.09487	-1.0672	10	0.51188	T	0.08	.	11.0573	0.47927	0.0:0.8635:0.0:0.1365	.	668;685	Q92738;Q92738-2	US6NL_HUMAN;.	M	668;685;668	ENSP00000277575:R685M;ENSP00000368539:R668M	ENSP00000277575:R685M	R	-	2	0	USP6NL	11544930	0.038000	0.19896	0.042000	0.18584	0.008000	0.06430	2.740000	0.47418	2.941000	0.99782	0.655000	0.94253	AGG		0.532	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		26	96	1	0	7.88262e-20	1	8.81088e-20	26	96				
VPS37D	155382	broad.mit.edu	37	7	73085532	73085532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73085532G>A	ENST00000324941.4	+	4	716	c.582G>A	c.(580-582)ccG>ccA	p.P194P	VPS37D_ENST00000451519.1_Silent_p.P109P	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				AATCCTTCCCGGCTGCAGCTG	0.736																																						ENST00000324941.4																			0				central_nervous_system(1)|ovary(1)	2						c.(580-582)ccG>ccA		vacuolar protein sorting 37 homolog D (S. cerevisiae)							6.0	6.0	6.0					7																	73085532		1531	3458	4989	SO:0001819	synonymous_variant	155382				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr7:73085532G>A	AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"""Williams Beuren syndrome chromosome region 24"", ""vacuolar protein sorting 37D (yeast)"""	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.582G>A	7.37:g.73085532G>A						VPS37D_ENST00000451519.1_Silent_p.P109P	p.P194P	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN			4	716	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	194						Silent	SNP	ENST00000324941.4	37	c.582G>A	CCDS43596.1																																																																																				0.736	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		5	78	0	0	0	1	0	5	78				
LLGL1	3996	broad.mit.edu	37	17	18144854	18144854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18144854G>A	ENST00000316843.4	+	18	2688	c.2592G>A	c.(2590-2592)acG>acA	p.T864T		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	864					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACTGGCCACGTTTGCCAGTG	0.642																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2590-2592)acG>acA		lethal giant larvae homolog 1 (Drosophila)							75.0	55.0	62.0					17																	18144854		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18144854G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2592G>A	17.37:g.18144854G>A							p.T864T	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			18	2688	+	all_neural(463;0.228)		864					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.2592G>A	CCDS32586.1																																																																																				0.642	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			44	173	0	0	0	1	0	44	173				
NOTCH1	4851	broad.mit.edu	37	9	139397682	139397682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139397682C>T	ENST00000277541.6	-	27	5194	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1707					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)		CCCAGCGAGGCGAGCGCTCCC	0.642			"""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.(5119-5121)Gcc>Acc		notch 1							47.0	58.0	54.0					9																	139397682		2122	4243	6365	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.chr9:139397682C>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.5119G>A	9.37:g.139397682C>T	ENSP00000277541:p.Ala1707Thr	HNSCC(8;0.001)					p.A1707T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5194	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1707					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5119G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238152	0.95240	.	.	ENSG00000148400	ENST00000277541	T	0.37058	1.22	4.81	4.81	0.61882	Notch, NODP domain (1);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.66356	-0.5944	10	0.52906	T	0.07	.	17.2014	0.86907	0.0:1.0:0.0:0.0	.	1707	P46531	NOTC1_HUMAN	T	1707	ENSP00000277541:A1707T	ENSP00000277541:A1707T	A	-	1	0	NOTCH1	138517503	1.000000	0.71417	0.959000	0.39883	0.568000	0.35870	5.777000	0.68931	2.376000	0.81061	0.561000	0.74099	GCC		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		43	196	0	0	0	1	0	43	196				
RP11-478B9.1	0	broad.mit.edu	37	12	45457588	45457588	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45457588C>A	ENST00000548424.1	+	0	448																											ACTTGATGTCCTGTAACATCG	0.502																																						ENST00000548424.1																			0																																																			0							g.chr12:45457588C>A																													12.37:g.45457588C>A														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.502	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			31	180	1	0	1.74807e-11	1	1.86564e-11	31	180				
PGR	5241	broad.mit.edu	37	11	100998847	100998847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998847G>A	ENST00000325455.5	-	1	2408	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.R319C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	319	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGCCGAGTGCGGGCTGCCAAT	0.687																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(955-957)Cgc>Tgc		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						12.0	15.0	14.0					11																	100998847		1853	3714	5567	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998847G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.955C>T	11.37:g.100998847G>A	ENSP00000325120:p.Arg319Cys					PGR_ENST00000263463.5_Missense_Mutation_p.R319C|PGR_ENST00000534013.1_Intron	p.R319C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2408	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	319			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.955C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214077	0.58452	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.18657	2.2;2.2	4.37	3.38	0.38709	.	0.000000	0.40144	N	0.001167	T	0.45994	0.1370	M	0.82323	2.585	0.47819	D	0.999528	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.52132	-0.8616	10	0.87932	D	0	.	11.0039	0.47622	0.0:0.0:0.611:0.3889	.	319;319	Q8TDS3;P06401	.;PRGR_HUMAN	C	319	ENSP00000325120:R319C;ENSP00000263463:R319C	ENSP00000263463:R319C	R	-	1	0	PGR	100504057	0.993000	0.37304	1.000000	0.80357	0.746000	0.42486	1.562000	0.36353	1.962000	0.57031	0.561000	0.74099	CGC		0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			37	166	0	0	0	1	0	37	166				
TARSL2	123283	broad.mit.edu	37	15	102211926	102211926	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102211926A>G	ENST00000335968.3	-	14	2030	c.1814T>C	c.(1813-1815)tTt>tCt	p.F605S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	605					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGTTCTCCAAAGTCCATCAA	0.348																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1813-1815)tTt>tCt		threonyl-tRNA synthetase-like 2							68.0	66.0	67.0					15																	102211926		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102211926A>G	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1814T>C	15.37:g.102211926A>G	ENSP00000338093:p.Phe605Ser						p.F605S	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	2030	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		605					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1814T>C	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.976726	0.53720	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	5.11	0.69529	Aminoacyl-tRNA synthetase, class II (1);	0.049922	0.85682	D	0.000000	T	0.43831	0.1265	N	0.26042	0.785	0.58432	D	0.99999	B;B	0.32338	0.365;0.167	B;B	0.31245	0.099;0.126	T	0.38286	-0.9668	9	0.31617	T	0.26	-9.3299	12.9168	0.58211	1.0:0.0:0.0:0.0	.	605;510	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	S	605;510;605	.	ENSP00000329291:F510S	F	-	2	0	TARSL2	100029449	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.820000	0.92003	1.943000	0.56356	0.477000	0.44152	TTT		0.348	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		37	175	0	0	0	1	0	37	175				
SMG6	23293	broad.mit.edu	37	17	2076037	2076037	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2076037A>G	ENST00000263073.6	-	13	3322	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SMG6_ENST00000536871.2_Missense_Mutation_p.L183P|SMG6_ENST00000544865.1_Missense_Mutation_p.L1060P|SMG6_ENST00000354901.4_Missense_Mutation_p.L183P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1091					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCCTCTTCCAGGATAAGAAG	0.562																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3178-3180)cTg>cCg		SMG6 nonsense mediated mRNA decay factor							117.0	98.0	105.0					17																	2076037		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2076037A>G	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3272T>C	17.37:g.2076037A>G	ENSP00000263073:p.Leu1091Pro					SMG6_ENST00000536871.2_Missense_Mutation_p.L183P|SMG6_ENST00000263073.5_Missense_Mutation_p.L1091P|SMG6_ENST00000354901.4_Missense_Mutation_p.L183P	p.L1060P			Q86US8	EST1A_HUMAN			13	3689	-			1091					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.3179T>C	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231593	0.58777	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.55413	0.52;0.52;0.52	6.02	4.95	0.65309	.	0.090669	0.46145	D	0.000312	T	0.56307	0.1976	M	0.82323	2.585	0.80722	D	1	B	0.29162	0.235	B	0.29524	0.103	T	0.58951	-0.7545	10	0.87932	D	0	-5.0247	10.8308	0.46659	0.929:0.0:0.071:0.0	.	1091	Q86US8	EST1A_HUMAN	P	1091;1060;183	ENSP00000263073:L1091P;ENSP00000443920:L1060P;ENSP00000440283:L183P	ENSP00000263073:L1091P	L	-	2	0	SMG6	2022787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.128000	0.89595	1.108000	0.41662	0.448000	0.29417	CTG		0.562	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			60	314	0	0	0	1	0	60	314				
UBLCP1	134510	broad.mit.edu	37	5	158711927	158711927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158711927G>T	ENST00000296786.6	+	11	1271	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	315						nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCAAAGAAGCAAGGACAGT	0.338																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(943-945)aaG>aaT		ubiquitin-like domain containing CTD phosphatase 1							139.0	142.0	141.0					5																	158711927		2203	4298	6501	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158711927G>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.945G>T	5.37:g.158711927G>T	ENSP00000296786:p.Lys315Asn						p.K315N	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1271	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	315					D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.945G>T	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046228	0.36085	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.89	5.02	0.67125	.	0.150396	0.64402	N	0.000012	T	0.45617	0.1351	L	0.31752	0.955	0.51233	D	0.999913	B	0.20780	0.048	B	0.24006	0.05	T	0.35724	-0.9777	9	0.36615	T	0.2	-15.6052	11.6009	0.51001	0.1425:0.0:0.8575:0.0	.	315	Q8WVY7	UBCP1_HUMAN	N	315	.	ENSP00000296786:K315N	K	+	3	2	UBLCP1	158644505	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.544000	0.53640	1.493000	0.48517	0.643000	0.83706	AAG		0.338	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		38	265	1	0	9.45814e-24	1	1.07742e-23	38	265				
BAZ2B	29994	broad.mit.edu	37	2	160243016	160243016	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160243016A>C	ENST00000392783.2	-	22	3814	c.3319T>G	c.(3319-3321)Ttg>Gtg	p.L1107V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1107	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCAAAGCCCAAAACTTTACCA	0.423																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3319-3321)Ttg>Gtg		bromodomain adjacent to zinc finger domain, 2B							110.0	98.0	102.0					2																	160243016		1868	4124	5992	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160243016A>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3319T>G	2.37:g.160243016A>C	ENSP00000376534:p.Leu1107Val					AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V	p.L1107V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			22	3814	-			1107			DDT.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3319T>G	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.701099|3.701099	0.68501|0.68501	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.80824	.|-1.42;-1.37;-1.42;-1.39	6.08|6.08	4.95|4.95	0.65309|0.65309	.|DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.|0.000000	.|0.29273	.|U	.|0.012630	D|D	0.86814|0.86814	0.6023|0.6023	M|M	0.76574|0.76574	2.34|2.34	0.47476|0.47476	D|D	0.999432|0.999432	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.996;0.999	D|D	0.87143|0.87143	0.2204|0.2204	5|10	.|0.87932	.|D	.|0	-5.2789|-5.2789	5.7051|5.7051	0.17903|0.17903	0.8223:0.0:0.1777:0.0|0.8223:0.0:0.1777:0.0	.|.	.|1071;1107	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	C|V	167|1071;1107;1073;1007	.|ENSP00000376533:L1071V;ENSP00000376534:L1107V;ENSP00000348087:L1073V;ENSP00000339670:L1007V	.|ENSP00000339670:L1007V	F|L	-|-	2|1	0|2	BAZ2B|BAZ2B	159951262|159951262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.021000|4.021000	0.57196|0.57196	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	TTT|TTG		0.423	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			136	412	0	0	0	1	0	136	412				
CERS1	10715	broad.mit.edu	37	19	18990128	18990128	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18990128C>A	ENST00000427170.2	-	5	893	c.822G>T	c.(820-822)acG>acT	p.T274T	CERS1_ENST00000542296.2_Silent_p.T176T|CERS1_ENST00000429504.2_Silent_p.T274T|GDF1_ENST00000247005.6_5'UTR|AC005197.2_ENST00000597769.1_RNA	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	274	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)			endometrium(3)|lung(2)	5						TGTCAGGCACCGTGCGCAGAC	0.602																																						ENST00000427170.2																			0				endometrium(3)|lung(2)	5						c.(820-822)acG>acT		ceramide synthase 1							83.0	104.0	97.0					19																	18990128		2169	4272	6441	SO:0001819	synonymous_variant	0				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity	g.chr19:18990128C>A	AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"""longevity assurance (LAG1, S. cerevisiae) homolog 1"", ""LAG1 longevity assurance homolog 1 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 1"""	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.822G>T	19.37:g.18990128C>A						CERS1_ENST00000542296.2_Silent_p.T176T|CERS1_ENST00000429504.2_Silent_p.T274T|GDF1_ENST00000247005.6_5'UTR	p.T274T	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN			5	893	-			274			TLC.			Silent	SNP	ENST00000427170.2	37	c.822G>T	CCDS46020.1																																																																																				0.602	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	74	1	0	2.0095e-06	1	2.07161e-06	7	74				
HEATR5A	25938	broad.mit.edu	37	14	31771685	31771685	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31771685G>A	ENST00000389961.3	-	32	5261	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000543095.2_Silent_p.I1760I|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Silent_p.I1467I			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1754										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGAGGACCCCGATTGTGAGGT	0.403																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5278-5280)atC>atT		HEAT repeat containing 5A							30.0	32.0	31.0					14																	31771685		1837	4090	5927	SO:0001819	synonymous_variant	25938						binding	g.chr14:31771685G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5262C>T	14.37:g.31771685G>A						HEATR5A_ENST00000439727.1_Silent_p.I1467I|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000389961.3_Silent_p.I1754I	p.I1760I	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	33	5464	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1754					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37	c.5280C>T																																																																																					0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		9	45	0	0	0	1	0	9	45				
ICE2	79664	broad.mit.edu	37	15	60741867	60741867	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60741867T>G	ENST00000261520.4	-	10	1533	c.1299A>C	c.(1297-1299)acA>acC	p.T433T	NARG2_ENST00000439632.1_Silent_p.T296T	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTTTGGGGGCTGTAGGAGCAT	0.428																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1297-1299)acA>acC		NMDA receptor regulated 2							157.0	133.0	141.0					15																	60741867		2203	4300	6503	SO:0001819	synonymous_variant	79664					nucleus		g.chr15:60741867T>G																												ENST00000261520.4:c.1299A>C	15.37:g.60741867T>G						NARG2_ENST00000439632.1_Silent_p.T296T	p.T433T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			10	1533	-			433						Silent	SNP	ENST00000261520.4	37	c.1299A>C	CCDS10176.1																																																																																				0.428	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			144	530	0	0	0	1	0	144	530				
ZRSR2	8233	broad.mit.edu	37	X	15827333	15827333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15827333G>A	ENST00000307771.7	+	7	473	c.449G>A	c.(448-450)gGt>gAt	p.G150D		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	150					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TTGGAAAATGGTACCACATGG	0.378			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"""F, S, Mis"""	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L			"""MDS, CLL"""		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(448-450)gGt>gAt		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							112.0	102.0	106.0					X																	15827333		2203	4300	6503	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15827333G>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.449G>A	X.37:g.15827333G>A	ENSP00000303015:p.Gly150Asp						p.G150D	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			7	473	+	Hepatocellular(33;0.183)		150					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.449G>A	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378601	0.61735	.	.	ENSG00000169249	ENST00000307771	D	0.85955	-2.05	5.31	3.44	0.39384	.	0.322273	0.37219	N	0.002193	D	0.86859	0.6034	M	0.69358	2.11	0.80722	D	1	D	0.59357	0.985	P	0.51945	0.685	D	0.84916	0.0851	10	0.46703	T	0.11	.	11.3939	0.49830	0.0:0.1333:0.725:0.1417	.	150	Q15696	U2AFM_HUMAN	D	150	ENSP00000303015:G150D	ENSP00000303015:G150D	G	+	2	0	ZRSR2	15737254	1.000000	0.71417	0.035000	0.18076	0.985000	0.73830	5.920000	0.70017	0.475000	0.27415	0.594000	0.82650	GGT		0.378	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		142	472	0	0	0	1	0	142	472				
KCNT1	57582	broad.mit.edu	37	9	138650335	138650335	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138650335C>A	ENST00000263604.3	+	10	778	c.778C>A	c.(778-780)Ctg>Atg	p.L260M	KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000298480.5_Missense_Mutation_p.L279M|KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M|KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	260					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCACCCTGCTGTGCCTCGT	0.627																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(835-837)Ctg>Atg		potassium channel, subfamily T, member 1							239.0	183.0	202.0					9																	138650335		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138650335C>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.778C>A	9.37:g.138650335C>A	ENSP00000263604:p.Leu260Met					KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M|KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000263604.3_Missense_Mutation_p.L260M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M|KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M	p.L279M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	10	909	+		Myeloproliferative disorder(178;0.0821)	279					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.835C>A		.	.	.	.	.	.	.	.	.	.	C	15.28	2.786275	0.49997	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.38560	1.6;1.13;1.13;1.13;1.13	4.58	3.44	0.39384	Ion transport 2 (1);	0.098778	0.42420	U	0.000702	T	0.57286	0.2043	M	0.68952	2.095	0.52099	D	0.999949	P;P;D;P	0.56035	0.767;0.607;0.974;0.607	P;P;P;P	0.61800	0.588;0.507;0.894;0.61	T	0.62718	-0.6795	10	0.72032	D	0.01	-27.2141	12.5974	0.56478	0.0:0.9008:0.0:0.0992	.	246;279;231;260	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	231;279;279;226;240;246;260;260;260	ENSP00000417851:L231M;ENSP00000298480:L279M;ENSP00000360822:L279M;ENSP00000420764:L226M;ENSP00000263604:L260M	ENSP00000263604:L260M	L	+	1	2	KCNT1	137790156	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	1.960000	0.40422	2.086000	0.62901	0.313000	0.20887	CTG		0.627	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		92	353	1	0	2.78983e-34	1	3.31651e-34	92	353				
RBM19	9904	broad.mit.edu	37	12	114377943	114377943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114377943G>A	ENST00000545145.2	-	15	1838	c.1760C>T	c.(1759-1761)aCt>aTt	p.T587I	RBM19_ENST00000261741.5_Missense_Mutation_p.T587I|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	587	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGAATCACAGTCTTGCTTCG	0.637																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1759-1761)aCt>aTt		RNA binding motif protein 19							75.0	78.0	77.0					12																	114377943		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377943G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1760C>T	12.37:g.114377943G>A	ENSP00000442053:p.Thr587Ile					RBM19_ENST00000261741.5_Missense_Mutation_p.T587I|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I	p.T587I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			15	1838	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		587			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1760C>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647010	0.67358	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06294	3.32;3.32;3.32	4.3	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.254274	0.37761	N	0.001945	T	0.29652	0.0740	M	0.93328	3.405	0.49915	D	0.999838	P	0.51240	0.943	P	0.55999	0.789	T	0.48007	-0.9072	10	0.62326	D	0.03	-12.7428	16.7648	0.85521	0.0:0.0:1.0:0.0	.	587	Q9Y4C8	RBM19_HUMAN	I	587	ENSP00000442053:T587I;ENSP00000376344:T587I;ENSP00000261741:T587I	ENSP00000261741:T587I	T	-	2	0	RBM19	112862326	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	4.823000	0.62694	1.964000	0.57103	0.561000	0.74099	ACT		0.637	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		67	637	0	0	0	1	0	67	637				
PERP	64065	broad.mit.edu	37	6	138417631	138417631	+	Splice_Site	SNP	G	G	A	rs565134593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138417631G>A	ENST00000421351.3	-	2	385	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	72					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TCTACCCCACGCTGCAAGAAA	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21525	0.0		0.0	False		,,,				2504	0.0					ENST00000421351.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5						c.e2-1		PERP, TP53 apoptosis effector							45.0	45.0	45.0					6																	138417631		2203	4300	6503	SO:0001630	splice_region_variant	64065				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		g.chr6:138417631G>A	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"""keratinocyte associated protein 1"""	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.215-1C>T	6.37:g.138417631G>A							p.A72_splice	NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	2	385	-	Breast(32;0.0799)|Colorectal(23;0.24)		72					B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Splice_Site	SNP	ENST00000421351.3	37	c.214_splice	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241875	0.58995	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.89123	-2.47	5.5	5.5	0.81552	.	0.458938	0.23404	N	0.048548	D	0.86694	0.5994	L	0.36672	1.1	0.58432	D	0.999997	D	0.65815	0.995	P	0.56514	0.8	D	0.86284	0.1669	10	0.42905	T	0.14	.	13.6399	0.62243	0.0:0.2003:0.7997:0.0	.	72	Q96FX8	PERP_HUMAN	V	72;54	ENSP00000397157:A72V	ENSP00000265603:A54V	A	-	2	0	PERP	138459324	1.000000	0.71417	0.942000	0.38095	0.026000	0.11368	3.975000	0.56859	2.758000	0.94735	0.561000	0.74099	GCG		0.443	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121	Missense_Mutation	22	72	0	0	0	1	0	22	72				
XRCC1	7515	broad.mit.edu	37	19	44056975	44056975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44056975G>A	ENST00000262887.5	-	8	1344	c.797C>T	c.(796-798)tCg>tTg	p.S266L	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	266					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AACAGATGGCGACAGCTGGGC	0.562								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(796-798)tCg>tTg	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							145.0	148.0	147.0					19																	44056975		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44056975G>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.797C>T	19.37:g.44056975G>A	ENSP00000262887:p.Ser266Leu					XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L	p.S266L			P18887	XRCC1_HUMAN			8	1344	-		Prostate(69;0.0153)	266					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.797C>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	2.030	-0.422592	0.04734	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03124	4.07;4.04	4.35	-3.95	0.04118	.	2.105260	0.02044	N	0.049529	T	0.02767	0.0083	N	0.21448	0.665	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.43972	-0.9358	10	0.27082	T	0.32	2.3862	4.5857	0.12280	0.4721:0.0:0.377:0.1509	.	235;266	F5H8D7;P18887	.;XRCC1_HUMAN	L	280;266;235;266	ENSP00000262887:S266L;ENSP00000443671:S235L	ENSP00000262887:S266L	S	-	2	0	XRCC1	48748815	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.192000	0.17096	-0.318000	0.08665	-1.326000	0.01283	TCG		0.562	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		53	225	0	0	0	1	0	53	225				
XCR1	2829	broad.mit.edu	37	3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	21					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(61-63)cCg>cTg		chemokine (C motif) receptor 1							78.0	80.0	79.0					3																	46063378		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063378G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.62C>T	3.37:g.46063378G>A	ENSP00000310405:p.Pro21Leu					XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	418	-			21						Missense_Mutation	SNP	ENST00000309285.3	37	c.62C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.271567	0.00257	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67523	-0.27;-0.27	5.03	2.58	0.30949	.	1.364650	0.05708	N	0.595466	T	0.43456	0.1248	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.26916	-1.0089	10	0.24483	T	0.36	.	3.3904	0.07287	0.6493:0.0:0.1824:0.1682	.	21	P46094	XCR1_HUMAN	L	21	ENSP00000310405:P21L;ENSP00000438119:P21L	ENSP00000310405:P21L	P	-	2	0	XCR1	46038382	0.021000	0.18746	0.196000	0.23383	0.002000	0.02628	1.001000	0.29783	0.257000	0.21650	-1.144000	0.01866	CCG		0.552	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			57	280	0	0	0	1	0	57	280				
JPH4	84502	broad.mit.edu	37	14	24044904	24044904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24044904C>T	ENST00000397118.3	-	4	2043	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	JPH4_ENST00000356300.4_Missense_Mutation_p.A381T|JPH4_ENST00000544177.1_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	381					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCAGCGGCGATCTCCTGG	0.687																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1141-1143)Gcc>Acc		junctophilin 4							11.0	12.0	12.0					14																	24044904		2181	4283	6464	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24044904C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1141G>A	14.37:g.24044904C>T	ENSP00000380307:p.Ala381Thr					JPH4_ENST00000356300.4_Missense_Mutation_p.A381T	p.A381T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	2043	-	all_cancers(95;0.000251)		381					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1141G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342303	0.41498	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.63744	-0.06;-0.06	4.06	4.06	0.47325	.	0.000000	0.29964	U	0.010742	T	0.76723	0.4027	M	0.71581	2.175	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.80122	-0.1514	10	0.87932	D	0	.	13.7735	0.63039	0.0:1.0:0.0:0.0	.	381;381	A8K396;Q96JJ6	.;JPH4_HUMAN	T	381;381;381;382	ENSP00000348648:A381T;ENSP00000380307:A381T	ENSP00000267407:A382T	A	-	1	0	JPH4	23114744	1.000000	0.71417	0.990000	0.47175	0.010000	0.07245	7.156000	0.77453	2.079000	0.62486	0.563000	0.77884	GCC		0.687	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		14	62	0	0	0	1	0	14	62				
VWCE	220001	broad.mit.edu	37	11	61042028	61042028	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61042028G>A	ENST00000335613.5	-	12	1910	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1522-1524)taC>taT		von Willebrand factor C and EGF domains							197.0	125.0	149.0					11																	61042028		2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61042028G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1524C>T	11.37:g.61042028G>A							p.Y508Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			12	1910	-			508			VWFC 3.		A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.1524C>T	CCDS8002.1																																																																																				0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		68	301	0	0	0	1	0	68	301				
TACC2	10579	broad.mit.edu	37	10	123989890	123989890	+	Missense_Mutation	SNP	C	C	T	rs567347253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123989890C>T	ENST00000369005.1	+	16	8402	c.8062C>T	c.(8062-8064)Cgg>Tgg	p.R2688W	TACC2_ENST00000515603.1_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000260733.3_Missense_Mutation_p.R766W|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688W|TACC2_ENST00000453444.2_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2688					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCATCATGCGGATAGAAGC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18687	0.0		0.0	False		,,,				2504	0.0					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8062-8064)Cgg>Tgg		transforming, acidic coiled-coil containing protein 2							139.0	132.0	134.0					10																	123989890		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123989890C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8062C>T	10.37:g.123989890C>T	ENSP00000358001:p.Arg2688Trp					TACC2_ENST00000369001.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688W|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.R766W|TACC2_ENST00000369004.3_Intron	p.R2688W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			16	8402	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2688					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8062C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342475	0.81911	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000334433;ENST00000358010;ENST00000368999;ENST00000260733	T;T;T;T;T;T	0.07327	3.65;3.32;3.65;3.32;3.2;3.2	5.92	4.95	0.65309	.	0.000000	0.32204	N	0.006425	T	0.15825	0.0381	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.02610	-1.1134	10	0.87932	D	0	-20.069	10.8248	0.46625	0.4815:0.5185:0.0:0.0	.	766;834;2688	O95359-1;O95359-5;O95359	.;.;TACC2_HUMAN	W	2688;834;2688;834;778;766	ENSP00000358001:R2688W;ENSP00000425062:R834W;ENSP00000334280:R2688W;ENSP00000350701:R834W;ENSP00000357995:R778W;ENSP00000260733:R766W	ENSP00000260733:R766W	R	+	1	2	TACC2	123979880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.894000	0.63206	1.432000	0.47375	0.655000	0.94253	CGG		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			11	523	0	0	0	1	0	11	523				
GRIN2C	2905	broad.mit.edu	37	17	72838586	72838586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72838586C>T	ENST00000293190.5	-	13	3836	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1230					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACACTTCTGACTCCAGACTGG	0.607																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(3688-3690)gaG>gaA		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						27.0	26.0	26.0					17																	72838586		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72838586C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.3690G>A	17.37:g.72838586C>T							p.E1230E	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			13	3836	-	all_lung(278;0.172)|Lung NSC(278;0.207)		1230					B2RTT1	Silent	SNP	ENST00000293190.5	37	c.3690G>A	CCDS32724.1																																																																																				0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			30	167	0	0	0	1	0	30	167				
FBXL2	25827	broad.mit.edu	37	3	33415414	33415414	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33415414G>A	ENST00000484457.1	+	9	748		c.e9+1		FBXL2_ENST00000446237.3_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000283627.6_Splice_Site	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTCCTGCTCAGTAAGTAGCGT	0.498																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.e9+1		F-box and leucine-rich repeat protein 2							151.0	143.0	146.0					3																	33415414		2203	4300	6503	SO:0001630	splice_region_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33415414G>A	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.657+1G>A	3.37:g.33415414G>A						FBXL2_ENST00000283627.6_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000446237.3_Splice_Site		NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			9	748	+									Splice_Site	SNP	ENST00000484457.1	37		CCDS2658.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953424	0.73902	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000507198	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8767	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXL2	33390418	1.000000	0.71417	0.996000	0.52242	0.655000	0.38815	9.722000	0.98770	2.873000	0.98535	0.644000	0.83932	.		0.498	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	Intron	63	229	0	0	0	1	0	63	229				
NANOGP1	404635	broad.mit.edu	37	12	8048157	8048157	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8048157C>T	ENST00000607111.1	+	0	85							Q8N7R0	NANG2_HUMAN	Nanog homeobox pseudogene 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|lung(4)|prostate(1)	6						CAACCCACTACTGCAGAGAAG	0.473																																						ENST00000607111.1																			0				kidney(1)|lung(4)|prostate(1)	6																																														0							g.chr12:8048157C>T	AY455283		12p13.31	2014-03-20			ENSG00000176654	ENSG00000176654		"""Homeoboxes / ANTP class : NKL subclass"""	23099	pseudogene	pseudogene						15108323, 15233988	Standard	NG_006522		Approved	NANOG2	uc001qtp.1	Q8N7R0	OTTHUMG00000166020		12.37:g.8048157C>T														0	85	+									RNA	SNP	ENST00000607111.1	37			.	.	.	.	.	.	.	.	.	.	C	8.188	0.795289	0.16327	.	.	ENSG00000176654	ENST00000530989;ENST00000525030	.	.	.	1.59	1.59	0.23543	.	2.144890	0.01747	N	0.029713	T	0.29850	0.0746	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16041	-1.0416	8	0.31617	T	0.26	0.1453	6.7664	0.23568	0.0:1.0:0.0:0.0	.	22	E9PQ94	.	I	22;40	.	ENSP00000435164:T40I	T	+	2	0	NANOGP1	7939424	0.010000	0.17322	0.002000	0.10522	0.044000	0.14063	1.924000	0.40065	1.226000	0.43582	0.289000	0.19496	ACT		0.473	NANOGP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470953.1			26	522	0	0	0	1	0	26	522				
TM9SF3	56889	broad.mit.edu	37	10	98325081	98325081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98325081A>G	ENST00000371142.4	-	3	617	c.401T>C	c.(400-402)aTa>aCa	p.I134T		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	134						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TAAATCATCTATGTACATCTG	0.308																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(400-402)aTa>aCa		transmembrane 9 superfamily member 3							154.0	156.0	155.0					10																	98325081		2202	4296	6498	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98325081A>G	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.401T>C	10.37:g.98325081A>G	ENSP00000360184:p.Ile134Thr						p.I134T	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	3	617	-		Colorectal(252;0.158)	134					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.401T>C	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605645	0.87157	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.50548	0.74;0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.93978	3.48	0.80722	D	1	D	0.53462	0.96	P	0.57244	0.816	T	0.80957	-0.1150	10	0.72032	D	0.01	-19.9242	15.3	0.73940	1.0:0.0:0.0:0.0	.	134	Q9HD45	TM9S3_HUMAN	T	134;90	ENSP00000360184:I134T;ENSP00000401152:I90T	ENSP00000360184:I134T	I	-	2	0	TM9SF3	98315071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.921000	0.92784	2.201000	0.70794	0.460000	0.39030	ATA		0.308	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		22	398	0	0	0	1	0	22	398				
PCDHB8	56128	broad.mit.edu	37	5	140559622	140559622	+	Missense_Mutation	SNP	G	G	T	rs200922876		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559622G>T	ENST00000239444.2	+	1	2252	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	669	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTCCCAGCCCTACCTGC	0.682																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(2005-2007)caG>caT									44.0	45.0	44.0					5																	140559622		2180	4257	6437	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559622G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2007G>T	5.37:g.140559622G>T	ENSP00000239444:p.Gln669His						p.Q669H	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2252	+			669			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.2007G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144642	0.21288	.	.	ENSG00000120322	ENST00000239444	T	0.48836	0.8	4.22	2.2	0.27929	Cadherin (2);	.	.	.	.	T	0.44953	0.1318	M	0.67700	2.07	0.26343	N	0.977333	P	0.40731	0.728	B	0.41764	0.366	T	0.47471	-0.9115	9	0.87932	D	0	.	4.5376	0.12042	0.0925:0.2229:0.5509:0.1337	.	669	Q9UN66	PCDB8_HUMAN	H	669	ENSP00000239444:Q669H	ENSP00000239444:Q669H	Q	+	3	2	PCDHB8	140539806	0.000000	0.05858	1.000000	0.80357	0.347000	0.29111	-0.034000	0.12225	1.915000	0.55452	0.298000	0.19748	CAG		0.682	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		126	520	1	0	3.36637e-57	1	4.21541e-57	126	520				
FAM184A	79632	broad.mit.edu	37	6	119338092	119338092	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119338092C>A	ENST00000338891.7	-	5	1793	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTGAGTTCTCTTTGCTTCAT	0.333																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1348-1350)aaG>aaT		family with sequence similarity 184, member A							84.0	80.0	81.0					6																	119338092		1803	4066	5869	SO:0001583	missense	79632							g.chr6:119338092C>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1350G>T	6.37:g.119338092C>A	ENSP00000342604:p.Lys450Asn					RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N	p.K450N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			5	1793	-			450					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1350G>T	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938062|1.938062	0.34189|0.34189	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00351|.	7.97;7.97;7.97;7.97;7.97|.	4.94|4.94	2.16|2.16	0.27623|0.27623	.|.	0.154508|.	0.45867|.	D|.	0.000335|.	T|T	0.39627|0.39627	0.1085|0.1085	L|L	0.53249|0.53249	1.67|1.67	0.44635|0.44635	D|D	0.997614|0.997614	B;B;B|.	0.12630|.	0.003;0.006;0.003|.	B;B;B|.	0.12156|.	0.005;0.007;0.007|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.36615|.	T|.	0.2|.	-18.0805|-18.0805	5.6092|5.6092	0.17396|0.17396	0.1389:0.636:0.0:0.2251|0.1389:0.636:0.0:0.2251	.|.	450;330;450|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	N|I	450;330;330;450;330|36	ENSP00000342604:K450N;ENSP00000326608:K330N;ENSP00000357460:K330N;ENSP00000430442:K450N;ENSP00000429826:K330N|.	ENSP00000342604:K450N|.	K|R	-|-	3|2	2|0	FAM184A|FAM184A	119379791|119379791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.912000|0.912000	0.54170|0.54170	0.768000|0.768000	0.26590|0.26590	0.146000|0.146000	0.19002|0.19002	0.491000|0.491000	0.48974|0.48974	AAG|AGA		0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		44	202	1	0	1.76056e-25	1	2.02043e-25	44	202				
YWHAG	7532	broad.mit.edu	37	7	75959524	75959524	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75959524C>T	ENST00000307630.3	-	2	336	c.114G>A	c.(112-114)tcG>tcA	p.S38S		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	38					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GTTCCTCATTCGACAGTGGCT	0.502																																						ENST00000307630.3																			0				endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(112-114)tcG>tcA		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide							76.0	58.0	64.0					7																	75959524		2203	4300	6503	SO:0001819	synonymous_variant	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75959524C>T	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.114G>A	7.37:g.75959524C>T							p.S38S	NM_012479.3	NP_036611.2	P61981	1433G_HUMAN			2	336	-			38					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Silent	SNP	ENST00000307630.3	37	c.114G>A	CCDS5584.1																																																																																				0.502	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		59	245	0	0	0	1	0	59	245				
ZNF33B	7582	broad.mit.edu	37	10	43088961	43088961	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088961A>G	ENST00000359467.3	-	5	1551	c.1437T>C	c.(1435-1437)tgT>tgC	p.C479C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTGACTTTTGACAAAAGGATT	0.393																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1435-1437)tgT>tgC		zinc finger protein 33B							95.0	90.0	91.0					10																	43088961		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088961A>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1437T>C	10.37:g.43088961A>G						ZNF33B_ENST00000486187.1_RNA	p.C479C	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1551	-			479					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1437T>C	CCDS7198.1																																																																																				0.393	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		8	404	0	0	0	1	0	8	404				
LMF2	91289	broad.mit.edu	37	22	50945279	50945279	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50945279G>A	ENST00000474879.2	-	2	295	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Silent_p.L69L|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Silent_p.L94L|NCAPH2_ENST00000299821.11_5'Flank|NCAPH2_ENST00000395701.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	94						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCTCAGCAGCAGGGCTCCC	0.667																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(205-207)Ctg>Ttg		lipase maturation factor 2							30.0	27.0	28.0					22																	50945279		2182	4290	6472	SO:0001819	synonymous_variant	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50945279G>A	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.280C>T	22.37:g.50945279G>A						LMF2_ENST00000474879.2_Silent_p.L94L|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Silent_p.L94L	p.L69L			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	373	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	94					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	ENST00000474879.2	37	c.205C>T	CCDS14093.2																																																																																				0.667	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		4	68	0	0	0	1	0	4	68				
PTDSS2	81490	broad.mit.edu	37	11	489663	489663	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:489663C>T	ENST00000308020.5	+	10	1221	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	349					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCTGGTCCTCCTGCGGCTCGT	0.597																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(1045-1047)Ctg>Ttg		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						53.0	46.0	48.0					11																	489663		2199	4299	6498	SO:0001819	synonymous_variant	81490					integral to membrane		g.chr11:489663C>T	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1045C>T	11.37:g.489663C>T							p.L349L	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	10	1221	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	349						Silent	SNP	ENST00000308020.5	37	c.1045C>T	CCDS7696.1																																																																																				0.597	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			22	45	0	0	0	1	0	22	45				
KEAP1	9817	broad.mit.edu	37	19	10599948	10599948	+	Missense_Mutation	SNP	G	G	A	rs111830952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10599948G>A	ENST00000171111.5	-	5	2175	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	543					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GAAAGTCCACGTCTCTGTTTC	0.602																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1627-1629)aCg>aTg		kelch-like ECH-associated protein 1							82.0	62.0	69.0					19																	10599948		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10599948G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1628C>T	19.37:g.10599948G>A	ENSP00000171111:p.Thr543Met					KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M	p.T543M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		5	2175	-			543					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1628C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858697	0.17178	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80393	-1.37;-1.37	5.73	2.31	0.28768	Kelch-type beta propeller (1);	0.704760	0.14924	N	0.290506	T	0.76198	0.3954	M	0.80746	2.51	0.09310	N	1	P	0.47034	0.889	B	0.40825	0.341	T	0.69316	-0.5177	10	0.48119	T	0.1	.	2.3283	0.04228	0.1659:0.1499:0.5294:0.1548	.	543	Q14145	KEAP1_HUMAN	M	543	ENSP00000171111:T543M;ENSP00000377245:T543M	ENSP00000171111:T543M	T	-	2	0	KEAP1	10460948	0.001000	0.12720	0.004000	0.12327	0.055000	0.15305	0.984000	0.29565	0.805000	0.34159	-0.225000	0.12378	ACG		0.602	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		28	164	0	0	0	1	0	28	164				
RELN	5649	broad.mit.edu	37	7	103141228	103141228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103141228G>T	ENST00000428762.1	-	53	8790	c.8631C>A	c.(8629-8631)taC>taA	p.Y2877*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2877	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGGCCCTGAGTATCCCGGAT	0.512																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8629-8631)taC>taA		reelin							232.0	180.0	197.0					7																	103141228		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103141228G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8631C>A	7.37:g.103141228G>T	ENSP00000392423:p.Tyr2877*					CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*|RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*	p.Y2877*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	53	8790	-			2877			EGF-like 7.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.8631C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	50	17.167829	0.99880	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.36	4.47	0.54385	.	0.187164	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7502	0.46205	0.1447:0.0:0.8553:0.0	.	.	.	.	X	2877;2877;2877;394;2877	.	ENSP00000345694:Y2877X	Y	-	3	2	RELN	102928464	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	3.209000	0.51122	2.489000	0.83994	0.655000	0.94253	TAC		0.512	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		20	560	1	0	3.5997e-14	1	3.90403e-14	20	560				
TTLL5	23093	broad.mit.edu	37	14	76135778	76135778	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76135778T>C	ENST00000298832.9	+	3	299	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R|TTLL5_ENST00000557636.1_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	32					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGCATCATGTGGACTGGAGG	0.408																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(94-96)Tgg>Cgg		tubulin tyrosine ligase-like family, member 5							180.0	174.0	176.0					14																	76135778		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76135778T>C	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.94T>C	14.37:g.76135778T>C	ENSP00000298832:p.Trp32Arg					TTLL5_ENST00000557636.1_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R|TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R	p.W32R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	299	+			32					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.94T>C	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792195	0.70452	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.10763	2.84;3.06;3.32	5.39	5.39	0.77823	.	0.118493	0.64402	D	0.000006	T	0.30166	0.0756	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.949;0.962	T	0.01386	-1.1368	10	0.54805	T	0.06	.	12.9317	0.58290	0.0:0.0:0.0:1.0	.	32;32;32	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	R	32	ENSP00000450713:W32R;ENSP00000286650:W32R;ENSP00000298832:W32R	ENSP00000286650:W32R	W	+	1	0	TTLL5	75205531	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.832000	0.62759	2.039000	0.60335	0.383000	0.25322	TGG		0.408	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		26	569	0	0	0	1	0	26	569				
PLK1	5347	broad.mit.edu	37	16	23702279	23702279	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23702279C>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.R833H|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.R933H	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCGTGGGAAGCGGTTTGTGAA	0.617																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2797-2799)cGc>cAc		endoplasmic reticulum to nucleus signaling 2							77.0	74.0	75.0					16																	23702279		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702279C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702279C>T						ERN2_ENST00000457008.2_Missense_Mutation_p.R833H	p.R933H	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	22	2966	-			885					Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2798G>A	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165707	0.78339	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.37752	1.18;1.18	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.82059	-0.0645	10	0.87932	D	0	.	16.6239	0.84937	0.0:1.0:0.0:0.0	.	833;885	E7ETG2;A5YM65	.;.	H	933;833	ENSP00000256797:R933H;ENSP00000413812:R833H	ENSP00000256797:R933H	R	-	2	0	ERN2	23609780	1.000000	0.71417	0.991000	0.47740	0.200000	0.23975	5.911000	0.69939	2.594000	0.87642	0.561000	0.74099	CGC		0.617	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		29	285	0	0	0	1	0	29	285				
MFSD2B	388931	broad.mit.edu	37	2	24236237	24236237	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24236237C>A	ENST00000406420.3	+	2	195	c.179C>A	c.(178-180)gCc>gAc	p.A60D	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A60D	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	60					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCCTCCAGCGCCACAGCCTTT	0.557																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(178-180)gCc>gAc		major facilitator superfamily domain containing 2B							53.0	54.0	54.0					2																	24236237		1981	4154	6135	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24236237C>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.179C>A	2.37:g.24236237C>A	ENSP00000385527:p.Ala60Asp					MFSD2B_ENST00000406420.3_Missense_Mutation_p.A60D	p.A60D			A6NFX1	MFS2B_HUMAN			2	179	+			60					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.179C>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510031	0.85282	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.81739	-1.53;-1.53	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	U	0.000000	D	0.90055	0.6894	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91059	0.4884	10	0.87932	D	0	-23.2717	16.9131	0.86144	0.0:1.0:0.0:0.0	.	60	A6NFX1	MFS2B_HUMAN	D	60	ENSP00000385527:A60D;ENSP00000342501:A60D	ENSP00000342501:A60D	A	+	2	0	MFSD2B	24089741	1.000000	0.71417	0.990000	0.47175	0.674000	0.39518	6.388000	0.73195	2.677000	0.91161	0.462000	0.41574	GCC		0.557	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		23	67	1	0	3.5997e-14	1	3.90403e-14	23	67				
QPCT	25797	broad.mit.edu	37	2	37586768	37586768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37586768G>A	ENST00000338415.3	+	3	471	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	105					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTGGGTCTTGGAAATAGACAC	0.423																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(313-315)Gaa>Aaa		glutaminyl-peptide cyclotransferase							83.0	72.0	76.0					2																	37586768		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586768G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.313G>A	2.37:g.37586768G>A	ENSP00000344829:p.Glu105Lys					QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	p.E105K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			3	471	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	105					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.313G>A	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445183	0.83993	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.28255	1.62;1.62;1.62	5.53	5.53	0.82687	.	0.098347	0.64402	D	0.000001	T	0.57344	0.2047	M	0.85462	2.755	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.57152	0.561;0.814	T	0.64019	-0.6505	10	0.66056	D	0.02	-11.9925	19.4608	0.94916	0.0:0.0:1.0:0.0	.	56;105	Q16769-2;Q16769	.;QPCT_HUMAN	K	105;56;56	ENSP00000344829:E105K;ENSP00000385391:E56K;ENSP00000441606:E56K	ENSP00000344829:E105K	E	+	1	0	QPCT	37440272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.119000	0.71590	2.587000	0.87381	0.655000	0.94253	GAA		0.423	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			71	338	0	0	0	1	0	71	338				
SIPA1L3	23094	broad.mit.edu	37	19	38572967	38572967	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38572967C>T	ENST00000222345.6	+	3	1271	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	254					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGGGGCGGCGGCGGAGCCA	0.697																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(760-762)ggC>ggT		signal-induced proliferation-associated 1 like 3							10.0	12.0	11.0					19																	38572967		1890	3777	5667	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572967C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.762C>T	19.37:g.38572967C>T							p.G254G	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1271	+			254					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.762C>T	CCDS33007.1																																																																																				0.697	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		48	133	0	0	0	1	0	48	133				
DIO3	1735	broad.mit.edu	37	14	102028103	102028103	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028103C>T	ENST00000510508.4	+	1	416	c.270C>T	c.(268-270)ggC>ggT	p.G90G	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.G64G			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	90					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACAGTGAAGGCGAGGAGGTGC	0.647																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(190-192)ggC>ggT		deiodinase, iodothyronine, type III							43.0	48.0	47.0					14																	102028103		1976	4126	6102	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028103C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.270C>T	14.37:g.102028103C>T						DIO3_ENST00000510508.4_Silent_p.G90G	p.G64G	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	416	+		all_neural(303;0.185)	64					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.192C>T	CCDS41992.2																																																																																				0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		69	432	0	0	0	1	0	69	432				
PTCHD2	57540	broad.mit.edu	37	1	11561811	11561811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561811G>A	ENST00000294484.6	+	2	900	c.762G>A	c.(760-762)tcG>tcA	p.S254S	PTCHD2_ENST00000389575.3_Silent_p.S254S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	254					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGGCGCCTCGCGCTGGGACT	0.701																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(760-762)tcG>tcA		patched domain containing 2							8.0	9.0	8.0					1																	11561811		1929	4106	6035	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561811G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.762G>A	1.37:g.11561811G>A						PTCHD2_ENST00000389575.3_Silent_p.S254S	p.S254S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	900	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	254					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.762G>A	CCDS41247.1																																																																																				0.701	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		9	66	0	0	0	1	0	9	66				
SLC7A13	157724	broad.mit.edu	37	8	87242497	87242497	+	Missense_Mutation	SNP	C	C	T	rs146811954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87242497C>T	ENST00000297524.3	-	1	113	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	4						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTTTCTCCCCTCTATCCATT	0.358																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(10-12)Ggg>Agg		solute carrier family 7 (anionic amino acid transporter), member 13							41.0	43.0	42.0					8																	87242497		2203	4297	6500	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242497C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.10G>A	8.37:g.87242497C>T	ENSP00000297524:p.Gly4Arg					SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R	p.G4R	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	113	-			4					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.10G>A	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	5.510	0.279145	0.10458	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90676	-2.42;-2.71	3.63	-0.275	0.12906	.	1.394900	0.04747	N	0.423834	D	0.85561	0.5725	L	0.46819	1.47	0.09310	N	1	P;B	0.35542	0.508;0.025	B;B	0.31290	0.127;0.01	T	0.72646	-0.4230	10	0.41790	T	0.15	.	6.6284	0.22843	0.0:0.568:0.0:0.432	.	4;4	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	R	4	ENSP00000297524:G4R;ENSP00000410982:G4R	ENSP00000297524:G4R	G	-	1	0	SLC7A13	87311613	0.131000	0.22433	0.001000	0.08648	0.352000	0.29268	1.084000	0.30828	-0.075000	0.12798	0.609000	0.83330	GGG		0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		25	311	0	0	0	1	0	25	311				
TCEA2	6919	broad.mit.edu	37	20	62701711	62701711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62701711C>T	ENST00000343484.5	+	7	785	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.R179W	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	206	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGACCTGCGGCGGAATGTGCT	0.582																																						ENST00000361317.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12						c.(535-537)Cgg>Tgg		transcription elongation factor A (SII), 2							121.0	100.0	107.0					20																	62701711		2203	4300	6503	SO:0001583	missense	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701711C>T	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.616C>T	20.37:g.62701711C>T	ENSP00000343515:p.Arg206Trp					TCEA2_ENST00000343484.5_Missense_Mutation_p.R206W|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR	p.R179W	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN			8	977	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		206			TFIIS central.		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	c.535C>T	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104062	0.56291	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	3.97	-0.0952	0.13642	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.230417	0.37219	N	0.002183	T	0.63177	0.2489	M	0.90542	3.125	0.37110	D	0.900287	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.968;0.968;0.997	T	0.66304	-0.5957	10	0.87932	D	0	-1.4833	6.2334	0.20750	0.6126:0.2791:0.0:0.1083	.	206;206;179	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	W	179;206;179;179;179	ENSP00000354552:R179W;ENSP00000343515:R206W;ENSP00000339432:R179W;ENSP00000407085:R179W;ENSP00000416026:R179W	ENSP00000339432:R179W	R	+	1	2	TCEA2	62172155	0.005000	0.15991	0.044000	0.18714	0.782000	0.44232	0.247000	0.18179	0.248000	0.21435	0.561000	0.74099	CGG		0.582	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		74	303	0	0	0	1	0	74	303				
RALGDS	5900	broad.mit.edu	37	9	135977147	135977147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135977147G>T	ENST00000372050.3	-	16	2235	c.2214C>A	c.(2212-2214)ttC>ttA	p.F738L	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L|RALGDS_ENST00000393160.3_Missense_Mutation_p.F683L|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	738					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGATTCCCAGAACTGAGGGA	0.627			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2047-2049)ttC>ttA		ral guanine nucleotide dissociation stimulator							41.0	39.0	39.0					9																	135977147		2198	4297	6495	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135977147G>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2214C>A	9.37:g.135977147G>T	ENSP00000361120:p.Phe738Leu					RALGDS_ENST00000372050.3_Missense_Mutation_p.F738L|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L|RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L|RALGDS_ENST00000469972.1_5'UTR	p.F683L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	16	2402	-			738					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.2049C>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070758	0.07228	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.34072	1.89;1.39;1.89;1.85;2.05;1.38;2.31	5.12	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	N	0.20328	0.56	0.51482	D	0.999924	B;B;B;B;B;B;B	0.28605	0.037;0.087;0.217;0.145;0.041;0.087;0.087	B;B;B;B;B;B;B	0.28011	0.024;0.085;0.085;0.048;0.026;0.085;0.085	T	0.08027	-1.0742	10	0.02654	T	1	.	10.0178	0.42024	0.0758:0.1385:0.7857:0.0	.	809;709;726;683;737;726;738	F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;GNDS_HUMAN	L	738;726;683;435;737;809;709;298	ENSP00000361120:F738L;ENSP00000361117:F726L;ENSP00000376867:F683L;ENSP00000376864:F737L;ENSP00000437518:F809L;ENSP00000361132:F709L;ENSP00000391814:F298L	ENSP00000361117:F726L	F	-	3	2	RALGDS	134966968	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	5.214000	0.65236	0.652000	0.30806	0.462000	0.41574	TTC		0.627	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		9	78	1	0	4.68919e-08	1	4.88816e-08	9	78				
GAL3ST1	9514	broad.mit.edu	37	22	30951867	30951867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951867G>A	ENST00000402321.1	-	3	662	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST1_ENST00000402369.1_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000401975.1_Silent_p.F115F|GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	115					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCGGGTAGTCGAAGTCATTGC	0.612																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(343-345)ttC>ttT		galactose-3-O-sulfotransferase 1							95.0	81.0	85.0					22																	30951867		2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951867G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.345C>T	22.37:g.30951867G>A						GAL3ST1_ENST00000401975.1_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F|GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000402369.1_Silent_p.F115F	p.F115F			Q99999	G3ST1_HUMAN			3	662	-			115					Q96C63	Silent	SNP	ENST00000402321.1	37	c.345C>T	CCDS13879.1																																																																																				0.612	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		53	598	0	0	0	1	0	53	598				
SPAG1	6674	broad.mit.edu	37	8	101190150	101190150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101190150G>A	ENST00000388798.2	+	4	598	c.407G>A	c.(406-408)aGc>aAc	p.S136N	SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N|SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	136					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGTTCAAACAGCTGTCTTCAT	0.388																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(406-408)aGc>aAc		sperm associated antigen 1							120.0	119.0	119.0					8																	101190150		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101190150G>A	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.407G>A	8.37:g.101190150G>A	ENSP00000373450:p.Ser136Asn					SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N|SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N	p.S136N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	4	598	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	136					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.407G>A	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741393	0.15642	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.47	2.67	0.31697	.	0.713412	0.13896	N	0.355225	T	0.16896	0.0406	M	0.75264	2.295	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.11329	0.005;0.006	T	0.18808	-1.0325	10	0.62326	D	0.03	-3.0269	6.9275	0.24424	0.2093:0.0:0.7907:0.0	.	136;136	Q07617;G3XAM3	SPAG1_HUMAN;.	N	136	ENSP00000427716:S136N;ENSP00000251809:S136N;ENSP00000428070:S136N;ENSP00000373450:S136N	ENSP00000251809:S136N	S	+	2	0	SPAG1	101259326	0.005000	0.15991	0.018000	0.16275	0.787000	0.44495	1.243000	0.32767	0.621000	0.30232	0.591000	0.81541	AGC		0.388	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		30	327	0	0	0	1	0	30	327				
ANKRD11	29123	broad.mit.edu	37	16	89349137	89349137	+	Silent	SNP	C	C	T	rs368590420		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89349137C>T	ENST00000301030.4	-	9	4273	c.3813G>A	c.(3811-3813)tcG>tcA	p.S1271S	ANKRD11_ENST00000378330.2_Silent_p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1271	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGCACTTCTCGAGGACTTCC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19547	0.0		0.001	False		,,,				2504	0.0					ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3811-3813)tcG>tcA		ankyrin repeat domain 11		C		1,4395	2.1+/-5.4	0,1,2197	63.0	66.0	65.0		3813	-10.6	0.0	16		65	0,8600		0,0,4300	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		1271/2664	89349137	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89349137C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3813G>A	16.37:g.89349137C>T						ANKRD11_ENST00000378330.2_Silent_p.S1271S	p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4273	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1271			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.3813G>A	CCDS32513.1																																																																																				0.488	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		83	427	0	0	0	1	0	83	427				
ASTN1	460	broad.mit.edu	37	1	176863860	176863860	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176863860C>T	ENST00000367654.3	-	17	3013	c.2802G>A	c.(2800-2802)gcG>gcA	p.A934A	ASTN1_ENST00000424564.2_Silent_p.A926A|ASTN1_ENST00000367657.3_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	934					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGACTCCAGCCGCCATGTGCT	0.607																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2800-2802)gcG>gcA		astrotactin 1							99.0	97.0	98.0					1																	176863860		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176863860C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2802G>A	1.37:g.176863860C>T						ASTN1_ENST00000367657.3_Silent_p.A926A|ASTN1_ENST00000424564.2_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A	p.A934A			O14525	ASTN1_HUMAN			17	2815	-			934					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2802G>A																																																																																					0.607	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		179	574	0	0	0	1	0	179	574				
FBXO36	130888	broad.mit.edu	37	2	230875544	230875544	+	Missense_Mutation	SNP	C	C	T	rs139190280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230875544C>T	ENST00000283946.3	+	4	529	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W|FBXO36_ENST00000373652.3_Missense_Mutation_p.R140W	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCAGCTCCAGCGGCAGCTCCG	0.552																																						ENST00000373652.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(418-420)Cgg>Tgg		F-box protein 36		C	TRP/ARG	0,4406		0,0,2203	36.0	35.0	35.0		511	4.0	1.0	2	dbSNP_134	35	2,8598	2.2+/-6.3	0,2,4298	no	missense	FBXO36	NM_174899.4	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	171/189	230875544	2,13004	2203	4300	6503	SO:0001583	missense	130888							g.chr2:230875544C>T	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.511C>T	2.37:g.230875544C>T	ENSP00000283946:p.Arg171Trp					FBXO36_ENST00000283946.3_Missense_Mutation_p.R171W|FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W	p.R140W			Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	5	839	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	171					B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	c.418C>T	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644135	0.67244	0.0	2.33E-4	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T;T	0.22743	1.94;1.94;1.94	4.86	3.95	0.45737	F-box domain, Skp2-like (1);	0.622148	0.14637	N	0.307472	T	0.22085	0.0532	L	0.56769	1.78	0.34736	D	0.730262	D;D	0.69078	0.997;0.994	P;P	0.44477	0.451;0.451	T	0.31861	-0.9928	10	0.40728	T	0.16	-6.2447	6.8825	0.24181	0.1827:0.7261:0.0:0.0912	.	140;171	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	W	140;171;151	ENSP00000362756:R140W;ENSP00000283946:R171W;ENSP00000386673:R151W	ENSP00000283946:R171W	R	+	1	2	FBXO36	230583788	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.779000	0.26746	0.964000	0.38108	0.511000	0.50034	CGG		0.552	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		15	149	0	0	0	1	0	15	149				
PRPH	5630	broad.mit.edu	37	12	49691311	49691311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49691311G>T	ENST00000257860.4	+	6	2667	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GATGGCCCTGGACATCGAGAT	0.692											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257860.4																			0				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(1168-1170)Gac>Tac		peripherin							32.0	34.0	33.0					12																	49691311		2202	4300	6502	SO:0001583	missense	5630						structural molecule activity	g.chr12:49691311G>T		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1168G>T	12.37:g.49691311G>T	ENSP00000257860:p.Asp390Tyr		OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RP11-161H23.9_ENST00000553259.1_RNA	p.D390Y	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN			6	2667	+			390			Coil 2.|Rod.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.1168G>T	CCDS8783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.270856|5.270856	0.95429|0.95429	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000257860|ENST00000532332	D|.	0.91740|.	-2.9|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Filament (1);|.	0.000000|.	0.35936|.	N|.	0.002898|.	D|D	0.91112|0.91112	0.7202|0.7202	H|H	0.98769|0.98769	4.325|4.325	0.80722|0.80722	D|D	1|1	P|.	0.41450|.	0.75|.	P|.	0.48738|.	0.588|.	D|D	0.94583|0.94583	0.7781|0.7781	10|5	0.87932|.	D|.	0|.	.|.	18.1164|18.1164	0.89556|0.89556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	390|.	P41219|.	PERI_HUMAN|.	Y|V	390|118	ENSP00000257860:D390Y|.	ENSP00000257860:D390Y|.	D|G	+|+	1|2	0|0	PRPH|PRPH	47977578|47977578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.797000|9.797000	0.99108|0.99108	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.692	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		37	275	1	0	2.2871e-25	1	2.62398e-25	37	275				
ASCC2	84164	broad.mit.edu	37	22	30186501	30186501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30186501C>A	ENST00000397771.2	-	20	2236	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTGCCTTCTCTCTCAGCACT	0.587																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(2059-2061)Gag>Tag		activating signal cointegrator 1 complex subunit 2							57.0	51.0	53.0					22																	30186501		2203	4300	6503	SO:0001587	stop_gained	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30186501C>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2059G>T	22.37:g.30186501C>A	ENSP00000380877:p.Glu687*					ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*	p.E687*			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		20	2236	-			687					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Nonsense_Mutation	SNP	ENST00000397771.2	37	c.2059G>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817971	0.98507	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-30.8065	18.5398	0.91023	0.0:1.0:0.0:0.0	.	.	.	.	X	687;687;611	.	ENSP00000305502:E687X	E	-	1	0	ASCC2	28516501	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.714000	0.74692	2.713000	0.92767	0.655000	0.94253	GAG		0.587	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		41	210	1	0	4.01765e-15	1	4.38033e-15	41	210				
STX10	8677	broad.mit.edu	37	19	13256126	13256126	+	Silent	SNP	G	G	A	rs201520323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13256126G>A	ENST00000587230.1	-	5	511	c.447C>T	c.(445-447)atC>atT	p.I149I	STX10_ENST00000589083.1_Silent_p.I149I|STX10_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000242770.5_Silent_p.I149I	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	149					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCTGCTCCTCGATGTAGCGAG	0.617																																						ENST00000589083.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6						c.(445-447)atC>atT		syntaxin 10							51.0	47.0	48.0					19																	13256126		2203	4300	6503	SO:0001819	synonymous_variant	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13256126G>A	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.447C>T	19.37:g.13256126G>A						STX10_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000242770.5_Silent_p.I149I|STX10_ENST00000587230.1_Silent_p.I149I	p.I149I	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		5	499	-			149					A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	c.447C>T	CCDS32922.1																																																																																				0.617	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		37	153	0	0	0	1	0	37	153				
GABRE	2564	broad.mit.edu	37	X	151129810	151129810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151129810G>A	ENST00000370328.3	-	5	644	c.591C>T	c.(589-591)ctC>ctT	p.L197L	GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370325.1_Silent_p.L197L|MIR452_ENST00000385020.1_RNA|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	197					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAGCATGTGGAGTGAGCATC	0.522																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(589-591)ctC>ctT		gamma-aminobutyric acid (GABA) A receptor, epsilon							133.0	121.0	125.0					X																	151129810		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151129810G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.591C>T	X.37:g.151129810G>A						GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Silent_p.L197L	p.L197L			P78334	GBRE_HUMAN			5	644	-	Acute lymphoblastic leukemia(192;6.56e-05)		197					E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.591C>T	CCDS14703.1																																																																																				0.522	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		54	364	0	0	0	1	0	54	364				
RPS6KA5	9252	broad.mit.edu	37	14	91360773	91360773	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91360773C>A	ENST00000261991.3	-	13	1801	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	543	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTTCAGATCCCTGTGCACCAC	0.438																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1627-1629)aGg>aTg		ribosomal protein S6 kinase, 90kDa, polypeptide 5							135.0	115.0	122.0					14																	91360773		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91360773C>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1628G>T	14.37:g.91360773C>A	ENSP00000261991:p.Arg543Met					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M	p.R543M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	13	1801	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	543			Protein kinase 2.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1628G>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979109	0.74360	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.66099	-0.19;-0.19;-0.19	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90434	0.4426	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	543;543	O75582-2;O75582	.;KS6A5_HUMAN	M	543;464;543	ENSP00000261991:R543M;ENSP00000442803:R464M;ENSP00000402787:R543M	ENSP00000261991:R543M	R	-	2	0	RPS6KA5	90430526	1.000000	0.71417	0.987000	0.45799	0.533000	0.34776	7.818000	0.86416	2.656000	0.90262	0.655000	0.94253	AGG		0.438	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		22	420	1	0	1.5548e-18	1	1.72663e-18	22	420				
N4BP3	23138	broad.mit.edu	37	5	177546611	177546611	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177546611C>T	ENST00000274605.5	+	2	386	c.27C>T	c.(25-27)ggC>ggT	p.G9G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	9						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTGCTGGCATTGCCATGG	0.652																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(25-27)ggC>ggT		NEDD4 binding protein 3							34.0	38.0	37.0					5																	177546611		2203	4300	6503	SO:0001819	synonymous_variant	23138					cytoplasmic vesicle membrane		g.chr5:177546611C>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.27C>T	5.37:g.177546611C>T							p.G9G	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	386	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	9					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	37	c.27C>T	CCDS34307.1																																																																																				0.652	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		88	322	0	0	0	1	0	88	322				
ARHGAP28	79822	broad.mit.edu	37	18	6837372	6837372	+	Missense_Mutation	SNP	A	A	G	rs2303978	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6837372A>G	ENST00000383472.4	+	3	606	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.I9V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	168			I -> V (in dbSNP:rs2303978).		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TAAGCAATCTATCAGGGATGT	0.468													A|||	5	0.000998403	0.0	0.0	5008	,	,		15722	0.004		0.0	False		,,,				2504	0.001					ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(25-27)Atc>Gtc		Rho GTPase activating protein 28							111.0	102.0	105.0					18																	6837372		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6837372A>G	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.502A>G	18.37:g.6837372A>G	ENSP00000372964:p.Ile168Val					ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.I168V	p.I9V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			2	242	+		Colorectal(10;0.168)	0					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.25A>G		4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	A	0.008	-1.907140	0.00512	.	.	ENSG00000088756	ENST00000400091;ENST00000532723;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986	T;T;T;T;T;T;T	0.19938	2.11;2.26;2.11;3.46;3.46;3.46;3.39	5.65	0.755	0.18415	.	0.444690	0.26297	N	0.025190	T	0.03608	0.0103	N	0.01209	-0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41980	-0.9478	10	0.02654	T	1	.	10.7975	0.46470	0.3132:0.0:0.6868:0.0	rs2303978;rs52829196;rs2303978	9;116	F6VKJ9;Q9P2N2-2	.;.	V	168;116;116;9;9;9;9	ENSP00000382963:I168V;ENSP00000433390:I116V;ENSP00000262227:I116V;ENSP00000392660:I9V;ENSP00000437262:I9V;ENSP00000313506:I9V;ENSP00000406907:I9V	ENSP00000262227:I116V	I	+	1	0	ARHGAP28	6827372	0.175000	0.23083	0.002000	0.10522	0.206000	0.24218	0.912000	0.28597	-0.069000	0.12931	-0.766000	0.03442	ATC		0.468	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		53	236	0	0	0	1	0	53	236				
NCK1	4690	broad.mit.edu	37	3	136664529	136664529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664529G>A	ENST00000481752.1	+	3	495	c.331G>A	c.(331-333)Gct>Act	p.A111T	NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000469404.1_Missense_Mutation_p.A47T			P16333	NCK1_HUMAN	NCK adaptor protein 1	111					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CAACATGCCCGCTTATGTGAA	0.438																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(139-141)Gct>Act		NCK adaptor protein 1							148.0	147.0	147.0					3																	136664529		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664529G>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.331G>A	3.37:g.136664529G>A	ENSP00000417273:p.Ala111Thr					NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000481752.1_Missense_Mutation_p.A111T	p.A47T	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			2	230	+			111			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.139G>A	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183921	0.78677	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911	T;T;T;T;T;T;T	0.40756	1.37;1.37;1.05;1.02;2.09;1.37;2.09	6.16	6.16	0.99307	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.65088	-0.6253	10	0.66056	D	0.02	-14.2769	18.3537	0.90348	0.0:0.0:1.0:0.0	.	47;111	B7Z751;P16333	.;NCK1_HUMAN	T	111;111;111;111;111;47;47	ENSP00000288986:A111T;ENSP00000417273:A111T;ENSP00000419302:A111T;ENSP00000419677:A111T;ENSP00000417729:A111T;ENSP00000419631:A47T;ENSP00000418060:A47T	ENSP00000288986:A111T	A	+	1	0	NCK1	138147219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.937000	0.99478	0.650000	0.86243	GCT		0.438	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		107	438	0	0	0	1	0	107	438				
PRKD2	25865	broad.mit.edu	37	19	47197201	47197201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47197201C>T	ENST00000291281.4	-	10	1732	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T|PRKD2_ENST00000433867.1_Missense_Mutation_p.A503T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	503	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCGGATGGCTGTCTCCCAG	0.697																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1507-1509)Gcc>Acc		protein kinase D2							48.0	48.0	48.0					19																	47197201		2203	4298	6501	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47197201C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1507G>A	19.37:g.47197201C>T	ENSP00000291281:p.Ala503Thr					PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T|PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000291281.4_Missense_Mutation_p.A503T	p.A503T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	11	1984	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	503			PH.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1507G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132859	0.94517	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.25912	1.77;1.77	5.08	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.097594	0.45361	D	0.000367	T	0.41003	0.1140	M	0.70595	2.14	0.58432	D	0.999998	B;B	0.33748	0.423;0.423	B;B	0.43445	0.42;0.42	T	0.32745	-0.9895	10	0.52906	T	0.07	-18.0442	17.6955	0.88281	0.0:1.0:0.0:0.0	.	503;503	E7ER94;Q9BZL6	.;KPCD2_HUMAN	T	503	ENSP00000291281:A503T;ENSP00000393978:A503T	ENSP00000291281:A503T	A	-	1	0	PRKD2	51889041	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	7.688000	0.84153	2.554000	0.86153	0.555000	0.69702	GCC		0.697	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		81	308	0	0	0	1	0	81	308				
SRCIN1	80725	broad.mit.edu	37	17	36700182	36700182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36700182G>A	ENST00000264659.7	-	18	3517	c.3293C>T	c.(3292-3294)cCc>cTc	p.P1098L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	970					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACCTTCATGGGTGGTACACT	0.632																																						ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(3292-3294)cCc>cTc		SRC kinase signaling inhibitor 1							17.0	20.0	19.0					17																	36700182		2197	4291	6488	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36700182G>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3293C>T	17.37:g.36700182G>A	ENSP00000264659:p.Pro1098Leu					SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L	p.P1098L	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			18	3517	-			970					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.3293C>T	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298294	0.60195	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.48836	0.8	5.23	5.23	0.72850	.	0.149056	0.46442	D	0.000293	T	0.41581	0.1165	L	0.50333	1.59	0.53005	D	0.999965	P;P;B	0.41848	0.763;0.557;0.358	B;B;B	0.33960	0.173;0.124;0.124	T	0.38908	-0.9639	10	0.35671	T	0.21	-20.1707	17.5529	0.87881	0.0:0.0:1.0:0.0	.	970;970;1098	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	L	1098;879;993	ENSP00000264659:P1098L	ENSP00000264659:P1098L	P	-	2	0	SRCIN1	33953708	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	7.637000	0.83313	2.425000	0.82216	0.462000	0.41574	CCC		0.632	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		8	44	0	0	0	1	0	8	44				
PTPRN	5798	broad.mit.edu	37	2	220162710	220162710	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162710G>T	ENST00000295718.2	-	13	2024	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D|PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	595					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGAGCCACAGCCAGAGCCAC	0.657																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1783-1785)gCt>gAt		protein tyrosine phosphatase, receptor type, N							45.0	44.0	44.0					2																	220162710		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162710G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1784C>A	2.37:g.220162710G>T	ENSP00000295718:p.Ala595Asp					PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D	p.A595D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	13	2024	-		Renal(207;0.0474)	595					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1784C>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781120	0.70222	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.04015	3.85;3.73;3.73	4.76	4.76	0.60689	.	0.138904	0.49916	D	0.000134	T	0.11110	0.0271	L	0.40543	1.245	0.49130	D	0.999755	D;P	0.67145	0.996;0.885	P;B	0.59115	0.852;0.446	T	0.00926	-1.1512	10	0.66056	D	0.02	.	12.0899	0.53719	0.0836:0.0:0.9164:0.0	.	566;595	Q6NSL1;Q16849	.;PTPRN_HUMAN	D	566;595;566;505	ENSP00000386638:A566D;ENSP00000295718:A595D;ENSP00000444244:A505D	ENSP00000295718:A595D	A	-	2	0	PTPRN	219870954	0.974000	0.33945	0.984000	0.44739	0.887000	0.51463	3.587000	0.53957	2.468000	0.83385	0.655000	0.94253	GCT		0.657	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			72	238	1	0	7.1157e-29	1	8.29994e-29	72	238				
RFWD2	64326	broad.mit.edu	37	1	176175792	176175792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176175792C>T	ENST00000367669.3	-	1	837	c.323G>A	c.(322-324)aGc>aAc	p.S108N	RP11-195C7.1_ENST00000456125.1_RNA|RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	108	Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCTGCCGCTGCCTAGGCT	0.677																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(322-324)aGc>aAc		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							24.0	23.0	24.0					1																	176175792		2170	4252	6422	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176175792C>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.323G>A	1.37:g.176175792C>T	ENSP00000356641:p.Ser108Asn					RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	p.S108N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			1	837	-			108			Ser-rich.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.323G>A	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751596	0.69533	.	.	ENSG00000143207	ENST00000367669;ENST00000308769;ENST00000436424	T;T	0.59638	0.37;0.25	3.76	3.76	0.43208	.	0.391206	0.27433	N	0.019395	T	0.45236	0.1332	N	0.24115	0.695	0.53005	D	0.999965	B;B	0.30889	0.299;0.198	B;B	0.32864	0.154;0.074	T	0.50083	-0.8869	10	0.46703	T	0.11	-4.3193	14.8775	0.70504	0.0:1.0:0.0:0.0	.	108;108	Q8NHY2-2;Q8NHY2	.;RFWD2_HUMAN	N	108	ENSP00000356641:S108N;ENSP00000310943:S108N	ENSP00000310943:S108N	S	-	2	0	RFWD2	174442415	0.997000	0.39634	0.963000	0.40424	0.796000	0.44982	3.980000	0.56895	2.076000	0.62316	0.455000	0.32223	AGC		0.677	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		13	273	0	0	0	1	0	13	273				
SNHG14	104472715	broad.mit.edu	37	15	25423900	25423900	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25423900A>C	ENST00000441592.2	+	0	399				SNORD115-5_ENST00000363633.1_RNA|SNORD115-4_ENST00000363810.1_RNA|SNORD115-6_ENST00000363942.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GATGATGAGAACCTTATATTG	0.532																																						ENST00000441592.2																			0																				436.0	424.0	428.0					15																	25423900		876	1989	2865			0							g.chr15:25423900A>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25423900A>C						SNORD115-5_ENST00000363633.1_RNA								0	399	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.532	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			28	1805	0	0	0	1	0	28	1805				
PPP2R5A	5525	broad.mit.edu	37	1	212519209	212519209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212519209G>A	ENST00000261461.2	+	5	1212	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	213					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GTTCTGCACCGAATTTATGGG	0.323																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(637-639)cGa>cAa		protein phosphatase 2, regulatory subunit B', alpha							73.0	74.0	74.0					1																	212519209		2203	4300	6503	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212519209G>A	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.638G>A	1.37:g.212519209G>A	ENSP00000261461:p.Arg213Gln					PPP2R5A_ENST00000498129.1_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q	p.R213Q	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	5	1212	+			213					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.638G>A	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750126	0.96890	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88499	0.3081	9	0.87932	D	0	-7.3463	19.3549	0.94408	0.0:0.0:1.0:0.0	.	156;213	B7Z7L2;Q15172	.;2A5A_HUMAN	Q	213;213;156	.	ENSP00000261461:R213Q	R	+	2	0	PPP2R5A	210585832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.666000	0.98612	2.573000	0.86826	0.491000	0.48974	CGA		0.323	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		70	297	0	0	0	1	0	70	297				
WDFY3	23001	broad.mit.edu	37	4	85758135	85758135	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85758135T>G	ENST00000295888.4	-	7	930	c.523A>C	c.(523-525)Aat>Cat	p.N175H	WDFY3_ENST00000322366.6_Missense_Mutation_p.N175H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	175					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTAGCTCATTCTGTGCACCT	0.453																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(523-525)Aat>Cat		WD repeat and FYVE domain containing 3							101.0	86.0	91.0					4																	85758135		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85758135T>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.523A>C	4.37:g.85758135T>G	ENSP00000295888:p.Asn175His					WDFY3_ENST00000295888.4_Missense_Mutation_p.N175H	p.N175H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	7	930	-		Hepatocellular(203;0.114)	175					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.523A>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249306	0.59103	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64991	-0.13;-0.13	5.76	5.76	0.90799	.	0.196716	0.53938	D	0.000047	T	0.43255	0.1239	N	0.08118	0	0.50467	D	0.999871	P;P	0.40107	0.703;0.571	B;B	0.35607	0.206;0.206	T	0.51942	-0.8641	10	0.51188	T	0.08	.	16.0697	0.80914	0.0:0.0:0.0:1.0	.	175;175	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	175	ENSP00000318466:N175H;ENSP00000295888:N175H	ENSP00000295888:N175H	N	-	1	0	WDFY3	85977159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.992000	0.56980	2.190000	0.69967	0.374000	0.22700	AAT		0.453	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		48	223	0	0	0	1	0	48	223				
FREM2	341640	broad.mit.edu	37	13	39263556	39263556	+	Missense_Mutation	SNP	G	G	A	rs367642497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263556G>A	ENST00000280481.7	+	1	2291	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	692					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGTGATTCGTATCCATCCT	0.567																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2074-2076)cGt>cAt		FRAS1 related extracellular matrix protein 2		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	83.0	81.0	81.0		2075	6.0	1.0	13		81	0,8600		0,0,4300	no	missense	FREM2	NM_207361.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	692/3170	39263556	2,13004	2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263556G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2075G>A	13.37:g.39263556G>A	ENSP00000280481:p.Arg692His						p.R692H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2291	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	692					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2075G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722443	0.48728	4.54E-4	0.0	ENSG00000150893	ENST00000280481	T	0.29655	1.56	5.97	5.97	0.96955	.	0.066368	0.64402	D	0.000002	T	0.31451	0.0797	L	0.35593	1.075	0.09310	N	0.999999	D	0.64830	0.994	P	0.53006	0.715	T	0.19778	-1.0295	10	0.20046	T	0.44	.	10.7282	0.46081	0.1407:0.0:0.8593:0.0	.	692	Q5SZK8	FREM2_HUMAN	H	692	ENSP00000280481:R692H	ENSP00000280481:R692H	R	+	2	0	FREM2	38161556	0.571000	0.26659	0.975000	0.42487	0.969000	0.65631	3.169000	0.50809	2.837000	0.97791	0.655000	0.94253	CGT		0.567	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		60	392	0	0	0	1	0	60	392				
ZFP82	284406	broad.mit.edu	37	19	36884325	36884325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36884325G>T	ENST00000392161.3	-	5	1159	c.917C>A	c.(916-918)gCt>gAt	p.A306D	ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGCCTGTCAGCACTATTAAG	0.443																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(916-918)gCt>gAt		ZFP82 zinc finger protein							138.0	137.0	137.0					19																	36884325		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884325G>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.917C>A	19.37:g.36884325G>T	ENSP00000431265:p.Ala306Asp					ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	p.A306D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1159	-			306					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.917C>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211222	0.58343	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.14516	2.5;2.5	4.15	1.73	0.24493	Zinc finger, C2H2 (1);	0.374530	0.19582	N	0.110835	T	0.11537	0.0281	N	0.04043	-0.29	0.29207	N	0.874812	P	0.50528	0.936	P	0.59424	0.857	T	0.04307	-1.0961	10	0.87932	D	0	.	6.202	0.20581	0.1084:0.2875:0.6041:0.0	.	306	Q8N141	ZFP82_HUMAN	D	306	ENSP00000431265:A306D;ENSP00000446080:A306D	ENSP00000431265:A306D	A	-	2	0	ZFP82	41576165	0.000000	0.05858	0.997000	0.53966	0.980000	0.70556	0.338000	0.19858	1.064000	0.40671	0.655000	0.94253	GCT		0.443	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		106	501	1	0	1.04275e-50	1	1.2925e-50	106	501				
LCE5A	254910	broad.mit.edu	37	1	152484304	152484304	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152484304C>A	ENST00000334269.2	+	2	470	c.294C>A	c.(292-294)ggC>ggA	p.G98G	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	98	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTGGGGGCTCCAGCTGCT	0.682																																						ENST00000334269.2																			0				lung(3)|ovary(1)|prostate(3)	7						c.(292-294)ggC>ggA		late cornified envelope 5A							15.0	19.0	17.0					1																	152484304		2155	4243	6398	SO:0001819	synonymous_variant	254910				keratinization			g.chr1:152484304C>A	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.294C>A	1.37:g.152484304C>A							p.G98G	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	470	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		98			Cys-rich.			Silent	SNP	ENST00000334269.2	37	c.294C>A	CCDS1011.1																																																																																				0.682	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		12	366	1	0	1.08611e-07	1	1.12939e-07	12	366				
OSBPL6	114880	broad.mit.edu	37	2	179192982	179192982	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179192982G>A	ENST00000190611.4	+	5	571		c.e5-1		OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000477097.1_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTTCTCTCAGGAAGCTGACA	0.393																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.e5-1		oxysterol binding protein-like 6							110.0	117.0	115.0					2																	179192982		2203	4300	6503	SO:0001630	splice_region_variant	114880				lipid transport		lipid binding	g.chr2:179192982G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.196-1G>A	2.37:g.179192982G>A						OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000477097.1_Splice_Site		NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		5	571	+								B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Splice_Site	SNP	ENST00000190611.4	37		CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248864	0.80024	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSBPL6	178901228	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.350000	0.97070	2.577000	0.86979	0.655000	0.94253	.		0.393	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	Intron	93	510	0	0	0	1	0	93	510				
PIK3C2B	5287	broad.mit.edu	37	1	204409450	204409450	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409450C>T	ENST00000367187.3	-	23	3806		c.e23-1		PIK3C2B_ENST00000424712.2_Splice_Site	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGTCCCCACACTGGATGGAGG	0.552																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.e23-1		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							118.0	109.0	112.0					1																	204409450		2203	4300	6503	SO:0001630	splice_region_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409450C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3250-1G>A	1.37:g.204409450C>T						PIK3C2B_ENST00000424712.2_Splice_Site		NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3806	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)							O95666|Q5SW99	Splice_Site	SNP	ENST00000367187.3	37		CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074567	0.94000	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2365	0.93862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3C2B	202676073	1.000000	0.71417	0.996000	0.52242	0.525000	0.34531	7.752000	0.85141	2.655000	0.90218	0.650000	0.86243	.		0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	Intron	100	317	0	0	0	1	0	100	317				
PCDHB6	56130	broad.mit.edu	37	5	140530486	140530486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140530486C>T	ENST00000231136.1	+	1	648	c.648C>T	c.(646-648)ggC>ggT	p.G216G	PCDHB6_ENST00000543635.1_Silent_p.G80G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGATGGCGGGTCTCCGC	0.592																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(646-648)ggC>ggT									49.0	54.0	52.0					5																	140530486		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530486C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.648C>T	5.37:g.140530486C>T						PCDHB6_ENST00000543635.1_Silent_p.G80G	p.G216G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	648	+			216			Cadherin 2.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.648C>T	CCDS4248.1																																																																																				0.592	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		86	413	0	0	0	1	0	86	413				
MALT1	10892	broad.mit.edu	37	18	56348560	56348560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56348560G>A	ENST00000348428.3	+	2	626	c.368G>A	c.(367-369)aGc>aAc	p.S123N	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S123N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	123	Death.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAGCTTCTCAGCCCCCCAGGT	0.428			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(367-369)aGc>aAc		mucosa associated lymphoid tissue lymphoma translocation gene 1							71.0	66.0	68.0					18																	56348560		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56348560G>A		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.368G>A	18.37:g.56348560G>A	ENSP00000319279:p.Ser123Asn					RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S123N	p.S123N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			2	626	+			123			Death.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.368G>A	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265601	0.23136	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.58940	0.3;0.3	6.03	2.81	0.32909	DEATH-like (2);	0.270585	0.47093	N	0.000243	T	0.39733	0.1089	L	0.29908	0.895	0.25731	N	0.985262	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.004	T	0.18681	-1.0329	10	0.18710	T	0.47	-7.9095	8.2378	0.31636	0.429:0.0:0.571:0.0	.	123;123	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	N	123	ENSP00000319279:S123N;ENSP00000304161:S123N	ENSP00000304161:S123N	S	+	2	0	MALT1	54499540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.116000	0.41930	0.632000	0.30432	0.557000	0.71058	AGC		0.428	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			36	160	0	0	0	1	0	36	160				
FBXO47	494188	broad.mit.edu	37	17	37113493	37113493	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37113493T>G	ENST00000378079.2	-	4	565	c.366A>C	c.(364-366)aaA>aaC	p.K122N		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	122										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGTGCATCTTTTAAACAGTA	0.318																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(364-366)aaA>aaC		F-box protein 47							174.0	172.0	172.0					17																	37113493		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37113493T>G		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.366A>C	17.37:g.37113493T>G	ENSP00000367319:p.Lys122Asn						p.K122N	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			4	565	-			122					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.366A>C	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348317	0.61183	.	.	ENSG00000204952	ENST00000378079	T	0.50277	0.75	5.0	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.71581	2.175	0.40979	D	0.984767	D	0.76494	0.999	D	0.80764	0.994	T	0.64162	-0.6472	10	0.87932	D	0	-3.8362	6.6748	0.23087	0.0:0.2598:0.0:0.7402	.	122	Q5MNV8	FBX47_HUMAN	N	122	ENSP00000367319:K122N	ENSP00000367319:K122N	K	-	3	2	FBXO47	34367019	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.732000	0.26072	0.856000	0.35383	0.528000	0.53228	AAA		0.318	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		95	452	0	0	0	1	0	95	452				
SRSF4	6429	broad.mit.edu	37	1	29475125	29475125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29475125G>A	ENST00000373795.4	-	6	1516	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	SRSF4_ENST00000466448.1_5'Flank|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	428	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTCTCTCCTCGACCTTCCCTC	0.547																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1282-1284)Cga>Tga		serine/arginine-rich splicing factor 4							235.0	239.0	238.0					1																	29475125		2203	4300	6503	SO:0001587	stop_gained	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475125G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1282C>T	1.37:g.29475125G>A	ENSP00000362900:p.Arg428*					SRSF4_ENST00000546138.1_3'UTR	p.R428*	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1516	-			428			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Nonsense_Mutation	SNP	ENST00000373795.4	37	c.1282C>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870825	0.91587	.	.	ENSG00000116350	ENST00000373795	.	.	.	5.72	2.51	0.30379	.	0.286209	0.37669	N	0.001985	.	.	.	.	.	.	0.33133	D	0.5433	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.424	0.07403	0.0859:0.1188:0.372:0.4234	.	.	.	.	X	428	.	ENSP00000362900:R428X	R	-	1	2	SRSF4	29347712	0.005000	0.15991	0.996000	0.52242	0.965000	0.64279	1.277000	0.33167	0.723000	0.32274	0.655000	0.94253	CGA		0.547	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		54	1283	0	0	0	1	0	54	1283				
BAIAP2L2	80115	broad.mit.edu	37	22	38505149	38505149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38505149C>T	ENST00000381669.3	-	2	262	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	40	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCGTGGAAGGCACGCAGGTAG	0.637																																						ENST00000381669.3																			0				large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8						c.(118-120)Gcc>Acc		BAI1-associated protein 2-like 2							59.0	66.0	64.0					22																	38505149		1995	4162	6157	SO:0001583	missense	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38505149C>T	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.118G>A	22.37:g.38505149C>T	ENSP00000371085:p.Ala40Thr					BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	p.A40T	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN			2	262	-	Melanoma(58;0.045)		40			IMD.		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	c.118G>A	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189363	0.57909	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	5.03	3.97	0.46021	IRSp53/MIM homology domain (IMD) (3);	0.055036	0.64402	D	0.000001	T	0.67173	0.2865	M	0.80616	2.505	0.58432	D	0.999999	P	0.35872	0.525	B	0.39258	0.295	T	0.71573	-0.4552	9	0.66056	D	0.02	-1.8304	14.3751	0.66867	0.1494:0.8506:0.0:0.0	.	40	Q6UXY1	BI2L2_HUMAN	T	40	.	ENSP00000328876:A40T	A	-	1	0	BAIAP2L2	36835095	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.721000	0.54941	1.034000	0.39945	0.313000	0.20887	GCC		0.637	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		46	228	0	0	0	1	0	46	228				
TDRD6	221400	broad.mit.edu	37	6	46657569	46657569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46657569C>T	ENST00000316081.6	+	1	1704	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Silent_p.F568F|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	568	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGATGTATTCTTAGTTGACC	0.443																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1702-1704)ttC>ttT		tudor domain containing 6							169.0	167.0	167.0					6																	46657569		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657569C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1704C>T	6.37:g.46657569C>T						TDRD6_ENST00000316081.6_Silent_p.F568F	p.F568F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1958	+			568			Tudor 3.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.1704C>T	CCDS34470.1																																																																																				0.443	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		197	775	0	0	0	1	0	197	775				
TCERG1	10915	broad.mit.edu	37	5	145849232	145849232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849232G>A	ENST00000296702.5	+	7	1362	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	442	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAACAGCAGATGGGAAGAC	0.383																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1324-1326)Gat>Aat		transcription elongation regulator 1							111.0	125.0	120.0					5																	145849232		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145849232G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1324G>A	5.37:g.145849232G>A	ENSP00000296702:p.Asp442Asn					TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	p.D442N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1362	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	442			WW 2.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1324G>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795679	0.90453	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.83506	-1.73;-1.73	5.71	5.71	0.89125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	L	0.48877	1.53	0.80722	D	1	D;D;D	0.59767	0.986;0.965;0.972	P;P;P	0.61800	0.894;0.558;0.685	D	0.87553	0.2466	10	0.52906	T	0.07	-21.2535	19.8493	0.96733	0.0:0.0:1.0:0.0	.	421;421;442	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	442;421	ENSP00000296702:D442N;ENSP00000377943:D421N	ENSP00000296702:D442N	D	+	1	0	TCERG1	145829425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	GAT		0.383	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		199	773	0	0	0	1	0	199	773				
RPS6KA2	6196	broad.mit.edu	37	6	166902391	166902391	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166902391C>T	ENST00000265678.4	-	10	1060	c.837G>A	c.(835-837)ccG>ccA	p.P279P	RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000510118.1_Silent_p.P304P	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537																																						ENST00000510118.1																			2	Substitution - coding silent(2)	p.P287P(1)|p.P279P(1)	large_intestine(2)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(910-912)ccG>ccA		ribosomal protein S6 kinase, 90kDa, polypeptide 2							46.0	45.0	46.0					6																	166902391		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166902391C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.837G>A	6.37:g.166902391C>T						RPS6KA2_ENST00000265678.4_Silent_p.P279P|RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000481261.2_Silent_p.P190P	p.P304P			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	12	1252	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	279			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.912G>A	CCDS5294.1																																																																																				0.537	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		20	111	0	0	0	1	0	20	111				
GPR123	84435	broad.mit.edu	37	10	134942923	134942923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942923C>T	ENST00000392607.3	+	7	2027	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	GPR123_ENST00000607359.1_Missense_Mutation_p.P1250S|GPR123_ENST00000392606.2_Missense_Mutation_p.P434S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	531					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAACGGGCTGCCCAAGGGTAA	0.647																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3748-3750)Ccc>Tcc		G protein-coupled receptor 123							19.0	19.0	19.0					10																	134942923		2198	4290	6488	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942923C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1591C>T	10.37:g.134942923C>T	ENSP00000376384:p.Pro531Ser					GPR123_ENST00000392607.3_Missense_Mutation_p.P531S|GPR123_ENST00000392606.2_Missense_Mutation_p.P434S	p.P1250S			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3748	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	531					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.3748C>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.239772	0.22711	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.03717	3.83	4.48	3.57	0.40892	.	1.001760	0.08053	N	0.996883	T	0.03739	0.0106	N	0.24115	0.695	0.23076	N	0.998337	B;B	0.32324	0.015;0.364	B;B	0.24269	0.002;0.052	T	0.45891	-0.9230	10	0.62326	D	0.03	.	12.7013	0.57034	0.0:0.833:0.1669:0.0	.	531;1250	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	1250;531;435	ENSP00000376384:P531S	ENSP00000357566:P1250S	P	+	1	0	GPR123	134792913	1.000000	0.71417	0.108000	0.21378	0.151000	0.21798	1.687000	0.37680	0.995000	0.38917	0.561000	0.74099	CCC		0.647	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			13	100	0	0	0	1	0	13	100				
PPP1R16A	84988	broad.mit.edu	37	8	145724155	145724155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145724155C>T	ENST00000292539.4	+	3	1179	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	88						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTTGCAGTCCGCCAGTTCCT	0.652																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(262-264)Cgc>Tgc		protein phosphatase 1, regulatory subunit 16A							49.0	48.0	48.0					8																	145724155		2202	4300	6502	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145724155C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.262C>T	8.37:g.145724155C>T	ENSP00000292539:p.Arg88Cys					CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C|CTD-2517M14.5_ENST00000569326.1_RNA	p.R88C			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	1179	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		88					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.262C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688159	0.29962	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.67345	-0.26;-0.26	4.65	2.82	0.32997	Ankyrin repeat-containing domain (4);	0.199760	0.40302	N	0.001134	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	B	0.25351	0.124	B	0.27170	0.077	T	0.61969	-0.6953	10	0.48119	T	0.1	.	8.275	0.31866	0.0:0.8035:0.0:0.1965	.	88	Q96I34	PP16A_HUMAN	C	88	ENSP00000292539:R88C;ENSP00000391126:R88C	ENSP00000292539:R88C	R	+	1	0	PPP1R16A	145694963	0.005000	0.15991	0.996000	0.52242	0.385000	0.30292	0.365000	0.20348	1.095000	0.41419	0.462000	0.41574	CGC		0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		31	223	0	0	0	1	0	31	223				
DICER1	23405	broad.mit.edu	37	14	95566220	95566220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95566220C>T	ENST00000526495.1	-	24	4394	c.4103G>A	c.(4102-4104)cGc>cAc	p.R1368H	DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H|DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H|DICER1_ENST00000556045.1_Missense_Mutation_p.R266H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1368	RNase III 1. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CACCACCATGCGGCTGGGTAG	0.403			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(4102-4104)cGc>cAc		dicer 1, ribonuclease type III							148.0	139.0	142.0					14																	95566220		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95566220C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4103G>A	14.37:g.95566220C>T	ENSP00000437256:p.Arg1368His					DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H|DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H|DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000556045.1_Missense_Mutation_p.R266H	p.R1368H			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	4394	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1368			RNase III 1.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.4103G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941045	0.92526	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.91	5.91	0.95273	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	N	0.10809	0.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.989	T	0.74435	-0.3666	10	0.15952	T	0.53	-18.6466	20.2985	0.98592	0.0:1.0:0.0:0.0	.	266;1368;1368	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	H	1368;1368;1368;1368;266;1368	ENSP00000343745:R1368H;ENSP00000437256:R1368H;ENSP00000376783:R1368H;ENSP00000435681:R1368H;ENSP00000451041:R266H;ENSP00000444719:R1368H	ENSP00000343745:R1368H	R	-	2	0	DICER1	94635973	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	CGC		0.403	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			90	385	0	0	0	1	0	90	385				
ITGA1	3672	broad.mit.edu	37	5	52145208	52145208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52145208G>A	ENST00000282588.6	+	2	529	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	24					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTGTTCTACGCTGCTGCGTA	0.373																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(70-72)cGc>cAc		integrin, alpha 1							138.0	138.0	138.0					5																	52145208		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52145208G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.71G>A	5.37:g.52145208G>A	ENSP00000282588:p.Arg24His						p.R24H	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			2	529	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	24					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.71G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	5.207	0.223791	0.09863	.	.	ENSG00000213949	ENST00000282588	D	0.85013	-1.93	5.53	3.64	0.41730	.	0.976260	0.08444	N	0.944947	T	0.69450	0.3112	N	0.12182	0.205	0.22112	N	0.999353	B	0.02656	0.0	B	0.01281	0.0	T	0.56171	-0.8023	10	0.13108	T	0.6	.	5.7312	0.18040	0.1697:0.1607:0.6696:0.0	.	24	P56199	ITA1_HUMAN	H	24	ENSP00000282588:R24H	ENSP00000282588:R24H	R	+	2	0	ITGA1	52180965	1.000000	0.71417	0.802000	0.32245	0.020000	0.10135	1.070000	0.30653	1.493000	0.48517	-0.138000	0.14375	CGC		0.373	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		54	205	0	0	0	1	0	54	205				
PTPRD	5789	broad.mit.edu	37	9	8376626	8376626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8376626C>T	ENST00000381196.4	-	35	5030	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q	PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1496	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCAAATGTTCGAACACAATA	0.418										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4486-4488)cGa>cAa		protein tyrosine phosphatase, receptor type, D							191.0	151.0	165.0					9																	8376626		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8376626C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4487G>A	9.37:g.8376626C>T	ENSP00000370593:p.Arg1496Gln	TSP Lung(15;0.13)				PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q	p.R1496Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	35	5030	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1496			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4487G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200664	0.79015	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.115754	0.56097	D	0.000037	T	0.76321	0.3971	H	0.97896	4.1	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.91635	0.974;0.974;0.974;0.974;0.991;0.88;0.995;0.934;0.999	D	0.85504	0.1193	9	.	.	.	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	1089;1080;1089;1090;1086;1086;1483;1496;1496	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1496;1496;1483;1474;1090;1089;1086;1086;967;1496;1089;1089	ENSP00000370593:R1496Q;ENSP00000348812:R1496Q;ENSP00000353187:R1483Q;ENSP00000351293:R1474Q;ENSP00000347373:R1090Q;ENSP00000380741:R1089Q;ENSP00000380735:R1086Q;ENSP00000440515:R1086Q;ENSP00000438164:R1496Q;ENSP00000417093:R1089Q;ENSP00000380731:R1089Q	.	R	-	2	0	PTPRD	8366626	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.419000	0.80179	2.633000	0.89246	0.591000	0.81541	CGA		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			56	228	0	0	0	1	0	56	228				
PLEKHG1	57480	broad.mit.edu	37	6	151139352	151139352	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151139352C>T	ENST00000358517.2	+	11	1523	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	PLEKHG1_ENST00000367328.1_Splice_Site_p.H438Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	438							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGATGCCATTCGTAAGTTTTA	0.303																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.e12+1		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							135.0	136.0	136.0					6																	151139352		2203	4299	6502	SO:0001630	splice_region_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151139352C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1312+1C>T	6.37:g.151139352C>T						PLEKHG1_ENST00000358517.2_Splice_Site_p.H438_splice	p.H438_splice	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	12	1624	+			438					Q5T1F2	Splice_Site	SNP	ENST00000358517.2	37	c.1312_splice	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887079	0.33348	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.87334	-2.24;-2.24	5.08	3.3	0.37823	Pleckstrin homology-type (1);	0.144593	0.64402	N	0.000007	T	0.65554	0.2702	L	0.27053	0.805	0.47276	D	0.999379	B;B;B	0.15141	0.012;0.007;0.007	B;B;B	0.13407	0.009;0.005;0.005	T	0.58803	-0.7572	10	0.26408	T	0.33	.	11.13	0.48341	0.0:0.7922:0.0:0.2078	.	245;438;438	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Y	438	ENSP00000356297:H438Y;ENSP00000351318:H438Y	ENSP00000351318:H438Y	H	+	1	0	PLEKHG1	151181045	0.956000	0.32656	0.996000	0.52242	0.935000	0.57460	1.891000	0.39738	0.660000	0.30964	-0.122000	0.15005	CAT		0.303	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		Missense_Mutation	50	324	0	0	0	1	0	50	324				
UBR4	23352	broad.mit.edu	37	1	19431088	19431088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19431088T>C	ENST00000375254.3	-	86	12745	c.12718A>G	c.(12718-12720)Agt>Ggt	p.S4240G	UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000543981.1_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000375267.2_Missense_Mutation_p.S4240G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4240					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGTGAGACTTTTAAGGGCA	0.517																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(12718-12720)Agt>Ggt		ubiquitin protein ligase E3 component n-recognin 4							68.0	58.0	62.0					1																	19431088		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19431088T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12718A>G	1.37:g.19431088T>C	ENSP00000364403:p.Ser4240Gly					UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375254.3_Missense_Mutation_p.S4240G	p.S4240G			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	86	12721	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4240					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.12718A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723048	0.68959	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	N	0.19112	0.55	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.58177	-0.7682	10	0.22109	T	0.4	.	14.002	0.64439	0.0:0.0:0.0:1.0	.	4240	Q5T4S7	UBR4_HUMAN	G	4240;4240;4233;4216	ENSP00000364403:S4240G;ENSP00000364416:S4240G;ENSP00000364365:S4233G;ENSP00000364374:S4216G	ENSP00000364365:S4233G	S	-	1	0	UBR4	19303675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.326000	0.78906	0.533000	0.62120	AGT		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		14	103	0	0	0	1	0	14	103				
PCDHGB7	56099	broad.mit.edu	37	5	140799067	140799067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799067C>A	ENST00000398594.2	+	1	1641	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATGTGAGCCTGCGCGTGT	0.711																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1639-1641)agC>agA									28.0	34.0	32.0					5																	140799067		2082	4197	6279	SO:0001583	missense	0							g.chr5:140799067C>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1641C>A	5.37:g.140799067C>A	ENSP00000381594:p.Ser547Arg					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S547R	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1641	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1641C>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.71	2.915298	0.52546	.	.	ENSG00000254122	ENST00000398594	T	0.51574	0.7	5.38	2.48	0.30137	Cadherin (5);Cadherin-like (1);	0.234553	0.20219	U	0.096729	T	0.51856	0.1699	L	0.45744	1.44	0.21841	N	0.999514	D;D	0.67145	0.996;0.972	D;P	0.68943	0.961;0.891	T	0.39502	-0.9611	10	0.87932	D	0	.	2.0696	0.03610	0.1243:0.4274:0.2234:0.2249	.	547;547	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	547	ENSP00000381594:S547R	ENSP00000381594:S547R	S	+	3	2	PCDHGB7	140779251	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.059000	0.11731	1.270000	0.44297	0.491000	0.48974	AGC		0.711	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		49	233	1	0	2.77807e-22	1	3.14147e-22	49	233				
MAML2	84441	broad.mit.edu	37	11	95713041	95713041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95713041G>T	ENST00000524717.1	-	5	3826	c.2542C>A	c.(2542-2544)Ctc>Atc	p.L848I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	848					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTAGACAGGAGGCTGGAATTG	0.423			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2542-2544)Ctc>Atc		mastermind-like 2 (Drosophila)							153.0	143.0	146.0					11																	95713041		1899	4115	6014	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95713041G>T	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2542C>A	11.37:g.95713041G>T	ENSP00000434552:p.Leu848Ile						p.L848I	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	3826	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	848					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2542C>A	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289942	0.40494	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	.	0.105832	0.41294	D	0.000913	T	0.57286	0.2043	L	0.29908	0.895	0.35936	D	0.832882	D	0.63880	0.993	D	0.68483	0.958	T	0.59621	-0.7420	10	0.30078	T	0.28	-17.0723	19.1576	0.93517	0.0:0.0:1.0:0.0	.	848	Q8IZL2	MAML2_HUMAN	I	848	ENSP00000434552:L848I;ENSP00000412394:L848I	ENSP00000412394:L848I	L	-	1	0	MAML2	95352689	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.101000	0.64566	2.598000	0.87819	0.650000	0.86243	CTC		0.423	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			60	203	1	0	9.59835e-30	1	1.1228e-29	60	203				
HNF4G	3174	broad.mit.edu	37	8	76452232	76452232	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76452232A>G	ENST00000354370.1	+	3	247				HNF4G_ENST00000396423.2_Missense_Mutation_p.D2G			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTGGACATGGACATGGCAAAT	0.393																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(4-6)gAc>gGc		hepatocyte nuclear factor 4, gamma							140.0	138.0	139.0					8																	76452232		1920	4138	6058	SO:0001627	intron_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76452232A>G		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.-23-3814A>G	8.37:g.76452232A>G						HNF4G_ENST00000354370.1_Intron	p.D2G	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		1	129	+	Breast(64;0.0448)		0					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.5A>G		.	.	.	.	.	.	.	.	.	.	A	14.84	2.655835	0.47467	.	.	ENSG00000164749	ENST00000396423	D	0.93189	-3.18	4.71	3.53	0.40419	.	0.000000	0.26594	U	0.023518	D	0.90710	0.7085	L	0.55990	1.75	0.40441	D	0.980048	B	0.30281	0.275	B	0.30716	0.119	D	0.89171	0.3537	10	0.87932	D	0	.	11.9732	0.53075	0.8552:0.1448:0.0:0.0	.	2	F1D8Q4	.	G	2	ENSP00000379701:D2G	ENSP00000379701:D2G	D	+	2	0	HNF4G	76614787	1.000000	0.71417	0.910000	0.35882	0.923000	0.55619	6.507000	0.73717	0.886000	0.36113	0.482000	0.46254	GAC		0.393	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		94	440	0	0	0	1	0	94	440				
PIAS4	51588	broad.mit.edu	37	19	4028840	4028840	+	Silent	SNP	C	C	T	rs148838008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4028840C>T	ENST00000262971.2	+	6	910	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	265	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAACTACGGCAAGGTGA	0.687																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(793-795)taC>taT		protein inhibitor of activated STAT, 4		C		0,4406		0,0,2203	90.0	79.0	82.0		795	-4.4	1.0	19	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIAS4	NM_015897.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		265/511	4028840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4028840C>T	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.795C>T	19.37:g.4028840C>T							p.Y265Y	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	910	+			265			PINIT.		O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	c.795C>T	CCDS12118.1																																																																																				0.687	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		49	266	0	0	0	1	0	49	266				
STRAP	11171	broad.mit.edu	37	12	16047046	16047046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:16047046C>T	ENST00000419869.2	+	5	782	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*|STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	157					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGAGGATAAACAGATTCTTTC	0.348																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(469-471)Cag>Tag		serine/threonine kinase receptor associated protein							111.0	123.0	119.0					12																	16047046		2203	4300	6503	SO:0001587	stop_gained	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16047046C>T	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.469C>T	12.37:g.16047046C>T	ENSP00000392270:p.Gln157*					STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*|STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*	p.Q157*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			5	782	+		Hepatocellular(102;0.121)	157					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Nonsense_Mutation	SNP	ENST00000419869.2	37	c.469C>T	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	C	39	7.479135	0.98309	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	.	.	.	4.18	4.18	0.49190	.	0.054356	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.3112	17.0353	0.86473	0.0:1.0:0.0:0.0	.	.	.	.	X	63;170;157	.	ENSP00000025399:Q170X	Q	+	1	0	STRAP	15938313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.242000	0.78210	2.319000	0.78375	0.650000	0.86243	CAG		0.348	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		17	469	0	0	0	1	0	17	469				
CSPG5	10675	broad.mit.edu	37	3	47618869	47618869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47618869A>G	ENST00000383738.2	-	2	2745	c.647T>C	c.(646-648)cTg>cCg	p.L216P	CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	216					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCACCATCCAGTCCTTCGAA	0.587																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(646-648)cTg>cCg		chondroitin sulfate proteoglycan 5 (neuroglycan C)							49.0	50.0	50.0					3																	47618869		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618869A>G	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.647T>C	3.37:g.47618869A>G	ENSP00000373244:p.Leu216Pro					CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P|CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P	p.L216P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	2745	-			216					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.647T>C	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935608	0.73442	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.56444	0.46;0.46;0.46	4.41	4.41	0.53225	Chondroitin sulphate attachment (1);	0.238565	0.28544	N	0.014970	T	0.58680	0.2139	L	0.27053	0.805	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.59994	-0.7349	10	0.46703	T	0.11	-9.1734	12.8895	0.58064	1.0:0.0:0.0:0.0	.	216;216	O95196;O95196-2	CSPG5_HUMAN;.	P	78;216;216	ENSP00000392096:L78P;ENSP00000373244:L216P;ENSP00000264723:L216P	ENSP00000264723:L216P	L	-	2	0	CSPG5	47593873	0.947000	0.32204	0.998000	0.56505	0.990000	0.78478	3.974000	0.56852	1.969000	0.57287	0.523000	0.50628	CTG		0.587	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		41	204	0	0	0	1	0	41	204				
MYO18A	399687	broad.mit.edu	37	17	27430619	27430619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27430619G>A	ENST00000527372.1	-	21	3685	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1169	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CAACTCACCCGGCTCAGGCCC	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(3505-3507)Cgg>Tgg		myosin XVIIIA							45.0	51.0	49.0					17																	27430619		2057	4200	6257	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27430619G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3505C>T	17.37:g.27430619G>A	ENSP00000437073:p.Arg1169Trp					MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W	p.R1169W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		21	3685	-			1169			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.3505C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387448	0.82902	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.29	5.29	0.74685	Myosin head, motor domain (2);	0.101322	0.64402	D	0.000002	D	0.92492	0.7616	L	0.52011	1.625	0.44337	D	0.997222	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73380	0.946;0.95;0.96;0.942;0.98	D	0.93184	0.6577	10	0.87932	D	0	.	15.8522	0.78940	0.0:0.0:1.0:0.0	.	838;781;1169;1169;1169	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	W	1169;1169;1169;1169;1169;65;65;781	ENSP00000346291:R1169W;ENSP00000435932:R1169W;ENSP00000434228:R1169W;ENSP00000437073:R1169W	ENSP00000346291:R1169W	R	-	1	2	MYO18A	24454745	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.168000	0.71908	2.464000	0.83262	0.561000	0.74099	CGG		0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		51	193	0	0	0	1	0	51	193				
MYO16	23026	broad.mit.edu	37	13	109644787	109644787	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109644787A>C	ENST00000357550.2	+	20	2408	c.2367A>C	c.(2365-2367)gaA>gaC	p.E789D	MYO16_ENST00000457511.2_Missense_Mutation_p.E301D|MYO16_ENST00000251041.5_Missense_Mutation_p.E789D|MYO16_ENST00000356711.2_Missense_Mutation_p.E789D	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAAGAATGAATTTGAACAAG	0.308																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(2365-2367)gaA>gaC		myosin XVI							126.0	121.0	123.0					13																	109644787		2201	4298	6499	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109644787A>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2367A>C	13.37:g.109644787A>C	ENSP00000350160:p.Glu789Asp					MYO16_ENST00000457511.2_Missense_Mutation_p.E301D|MYO16_ENST00000357550.2_Missense_Mutation_p.E789D|MYO16_ENST00000251041.5_Missense_Mutation_p.E789D	p.E789D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		21	2493	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		789			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2367A>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877850	0.51801	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.12	-0.171	0.13331	Myosin head, motor domain (3);	0.438833	0.16942	U	0.193259	T	0.74749	0.3757	N	0.24115	0.695	0.27897	N	0.939132	P;P;P	0.39424	0.622;0.622;0.673	B;B;B	0.42738	0.275;0.217;0.396	T	0.65249	-0.6214	9	.	.	.	.	0.9351	0.01343	0.4462:0.1429:0.2545:0.1564	.	301;789;789	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	D	789;789;789;789;577;301	ENSP00000349145:E789D;ENSP00000350160:E789D;ENSP00000251041:E789D;ENSP00000401633:E301D	.	E	+	3	2	MYO16	108442788	0.970000	0.33590	0.996000	0.52242	0.995000	0.86356	-0.061000	0.11693	-0.246000	0.09611	0.460000	0.39030	GAA		0.308	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		39	144	0	0	0	1	0	39	144				
THEMIS	387357	broad.mit.edu	37	6	128134272	128134272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134272G>A	ENST00000368248.2	-	4	1662	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L|THEMIS_ENST00000368250.1_Missense_Mutation_p.P426L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	505	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCGGCCCACAGGAATTTCCCA	0.478																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1276-1278)cCt>cTt		thymocyte selection associated							70.0	70.0	70.0					6																	128134272		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134272G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1514C>T	6.37:g.128134272G>A	ENSP00000357231:p.Pro505Leu					THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L|THEMIS_ENST00000368248.2_Missense_Mutation_p.P505L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L	p.P426L			Q8N1K5	THMS1_HUMAN			5	1775	-			505			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1277C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384593	0.61845	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63427	-0.6640	10	0.87932	D	0	-14.1489	16.9552	0.86257	0.0:0.1277:0.8723:0.0	.	505;505	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	426;505;505;470	ENSP00000357233:P426L;ENSP00000439594:P505L;ENSP00000357231:P505L;ENSP00000439863:P470L	ENSP00000357231:P505L	P	-	2	0	THEMIS	128175965	1.000000	0.71417	0.900000	0.35374	0.978000	0.69477	7.842000	0.86851	1.459000	0.47892	0.563000	0.77884	CCT		0.478	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		59	326	0	0	0	1	0	59	326				
IPP	3652	broad.mit.edu	37	1	46206618	46206618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46206618G>A	ENST00000396478.3	-	3	781	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	227						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.R227*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAGGGAATCGAATTGGGTCT	0.353																																						ENST00000396478.3																			1	Substitution - Nonsense(1)	p.R227*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(679-681)Cga>Tga		intracisternal A particle-promoted polypeptide							170.0	168.0	168.0					1																	46206618		2203	4300	6503	SO:0001587	stop_gained	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46206618G>A	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.679C>T	1.37:g.46206618G>A	ENSP00000379739:p.Arg227*						p.R227*	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			3	781	-	Acute lymphoblastic leukemia(166;0.155)		227					A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	ENST00000396478.3	37	c.679C>T	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597542	0.96602	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.17	4.2	0.49525	.	0.249248	0.41194	D	0.000931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3396	0.66617	0.0:0.0:0.7561:0.2439	.	.	.	.	X	227	.	ENSP00000353024:R227X	R	-	1	2	IPP	45979205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.577000	0.86979	0.643000	0.83706	CGA		0.353	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		65	311	0	0	0	1	0	65	311				
PPP1R9B	84687	broad.mit.edu	37	17	48216883	48216883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48216883C>T	ENST00000316878.6	-	8	1926	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	642	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCTCGATGGCCATCTCACCA	0.622																																						ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1924-1926)Gcc>Acc		protein phosphatase 1, regulatory subunit 9B							137.0	151.0	146.0					17																	48216883		2171	4262	6433	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48216883C>T	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1924G>A	17.37:g.48216883C>T	ENSP00000475417:p.Ala642Thr					PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.A642T	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN			8	1926	-			642			Interacts with TGN38 (By similarity).		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.1924G>A																																																																																					0.622	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		148	584	0	0	0	1	0	148	584				
AKR7A3	22977	broad.mit.edu	37	1	19609268	19609268	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19609268G>A	ENST00000361640.4	-	7	1493	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	318					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATGCCAGGCTTGATTAAA	0.557																																						ENST00000361640.4																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(952-954)gCc>gTc		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)							47.0	48.0	47.0					1																	19609268		2199	4300	6499	SO:0001583	missense	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19609268G>A	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.953C>T	1.37:g.19609268G>A	ENSP00000355377:p.Ala318Val						p.A318V	NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	1493	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	318					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	c.953C>T	CCDS193.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307444	0.40795	.	.	ENSG00000162482	ENST00000361640	T	0.23552	1.9	3.59	1.52	0.23074	NADP-dependent oxidoreductase domain (3);	0.108969	0.64402	D	0.000006	T	0.39436	0.1078	L	0.59967	1.855	0.49299	D	0.999775	D	0.69078	0.997	D	0.63113	0.911	T	0.04360	-1.0957	10	0.40728	T	0.16	.	10.741	0.46154	0.0:0.3737:0.6263:0.0	.	318	O95154	ARK73_HUMAN	V	318	ENSP00000355377:A318V	ENSP00000355377:A318V	A	-	2	0	AKR7A3	19481855	1.000000	0.71417	0.496000	0.27539	0.014000	0.08584	4.990000	0.63876	0.007000	0.14760	0.205000	0.17691	GCC		0.557	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		13	259	0	0	0	1	0	13	259				
LRRC4B	94030	broad.mit.edu	37	19	51021414	51021414	+	Missense_Mutation	SNP	T	T	C	rs201087269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021414T>C	ENST00000599957.1	-	3	1753	c.1556A>G	c.(1555-1557)gAc>gGc	p.D519G	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGACACCGTCTGTCGTGGG	0.741													T|||	1	0.000199681	0.0	0.0014	5008	,	,		11092	0.0		0.0	False		,,,				2504	0.0					ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1555-1557)gAc>gGc		leucine rich repeat containing 4B							8.0	10.0	9.0					19																	51021414		1781	3942	5723	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021414T>C	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1556A>G	19.37:g.51021414T>C	ENSP00000471502:p.Asp519Gly					LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G	p.D519G			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1753	-		all_neural(266;0.131)	519			Gly-rich.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1556A>G	CCDS42595.1	6	0.0027472527472527475	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	3.906	-0.020995	0.07634	.	.	ENSG00000131409	ENST00000389201	T	0.59083	0.29	3.05	3.05	0.35203	.	0.535452	0.15013	N	0.285479	T	0.25827	0.0629	N	0.08118	0	0.23496	N	0.997551	B	0.06786	0.001	B	0.04013	0.001	T	0.11275	-1.0594	10	0.22706	T	0.39	.	9.4792	0.38891	0.0:0.0:0.0:1.0	.	519	Q9NT99	LRC4B_HUMAN	G	519	ENSP00000373853:D519G	ENSP00000373853:D519G	D	-	2	0	LRRC4B	55713226	0.001000	0.12720	0.892000	0.35008	0.313000	0.28021	0.541000	0.23207	1.393000	0.46605	0.379000	0.24179	GAC		0.741	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		24	106	0	0	0	1	0	24	106				
ZNF326	284695	broad.mit.edu	37	1	90470725	90470725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90470725G>A	ENST00000340281.4	+	4	274	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E|ZNF326_ENST00000370447.3_Missense_Mutation_p.G44E|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	44	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGATCCTATGGGGGTCAGAGA	0.423																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(130-132)gGg>gAg		zinc finger protein 326							119.0	121.0	120.0					1																	90470725		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90470725G>A	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.131G>A	1.37:g.90470725G>A	ENSP00000340796:p.Gly44Glu					ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E|ZNF326_ENST00000370447.2_Missense_Mutation_p.G44E|ZNF326_ENST00000455342.2_Intron	p.G44E	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	4	274	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	44			Gly-rich.|Mediates transcriptional activation (By similarity).		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.131G>A	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250062	0.80024	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.65732	0.64;-0.17	5.38	5.38	0.77491	.	0.295538	0.31323	N	0.007841	T	0.66799	0.2826	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70766	-0.4783	10	0.72032	D	0.01	-8.5984	17.2903	0.87154	0.0:0.0:1.0:0.0	.	44;44	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	E	44	ENSP00000340796:G44E;ENSP00000359476:G44E	ENSP00000340796:G44E	G	+	2	0	ZNF326	90243313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.385000	0.73182	2.502000	0.84385	0.453000	0.30009	GGG		0.423	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		73	378	0	0	0	1	0	73	378				
SLC5A1	6523	broad.mit.edu	37	22	32498116	32498116	+	Silent	SNP	G	G	A	rs201764381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32498116G>A	ENST00000266088.4	+	13	1807	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	SLC5A1_ENST00000543737.1_Silent_p.T392T	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	519					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ACTGTCCCACGATTATCTGTG	0.493																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1555-1557)acG>acA		solute carrier family 5 (sodium/glucose cotransporter), member 1							343.0	266.0	292.0					22																	32498116		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32498116G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1557G>A	22.37:g.32498116G>A						SLC5A1_ENST00000543737.1_Silent_p.T392T	p.T519T	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			13	1807	+			519					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1557G>A	CCDS13902.1																																																																																				0.493	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		9	556	0	0	0	1	0	9	556				
DMPK	1760	broad.mit.edu	37	19	46280710	46280710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46280710C>T	ENST00000291270.4	-	8	1146	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000600757.1_Missense_Mutation_p.G351S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	341	AGC-kinase C-terminal.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAGTCGAGGCCAAAGAAGAAG	0.622																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1051-1053)Ggc>Agc		dystrophia myotonica-protein kinase							55.0	49.0	51.0					19																	46280710		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46280710C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1021G>A	19.37:g.46280710C>T	ENSP00000291270:p.Gly341Ser					DMPK_ENST00000291270.4_Missense_Mutation_p.G341S|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S	p.G351S			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	7	1738	-		Ovarian(192;0.0308)|all_neural(266;0.112)	351			AGC-kinase C-terminal.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.1051G>A	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.522874	0.85600	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.63	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000255	T	0.46889	0.1416	N	0.12471	0.22	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.993;0.999;0.999;0.998;0.998;1.0;0.999;0.999	T	0.55903	-0.8067	10	0.87932	D	0	.	15.3423	0.74306	0.0:1.0:0.0:0.0	.	341;341;367;341;341;341;388;351	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	S	341;367;341;341;341;351;351;341	ENSP00000401753:G341S;ENSP00000291270:G341S;ENSP00000413417:G341S;ENSP00000345997:G351S;ENSP00000346168:G341S	ENSP00000291270:G341S	G	-	1	0	DMPK	50972550	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.569000	0.60865	2.554000	0.86153	0.561000	0.74099	GGC		0.622	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		55	309	0	0	0	1	0	55	309				
NOTCH4	4855	broad.mit.edu	37	6	32163591	32163591	+	Missense_Mutation	SNP	C	C	T	rs564772335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32163591C>T	ENST00000375023.3	-	30	5773	c.5635G>A	c.(5635-5637)Gct>Act	p.A1879T	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1879					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAAGTCCGAGCCTGCAGACAA	0.716																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5635-5637)Gct>Act		notch 4							9.0	11.0	10.0					6																	32163591		1480	2647	4127	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163591C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5635G>A	6.37:g.32163591C>T	ENSP00000364163:p.Ala1879Thr					NOTCH4_ENST00000443903.2_3'UTR	p.A1879T	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	5773	-			1879					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5635G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700137	0.48307	.	.	ENSG00000204301	ENST00000375023	D	0.81908	-1.55	4.01	1.18	0.20946	.	0.398940	0.18440	N	0.141164	T	0.46405	0.1391	N	0.24115	0.695	0.19575	N	0.999962	P;B	0.43477	0.808;0.011	B;B	0.35353	0.201;0.007	T	0.46386	-0.9195	10	0.62326	D	0.03	.	3.5542	0.07858	0.1977:0.5916:0.0:0.2108	.	1879;1878	Q99466;B0S882	NOTC4_HUMAN;.	T	1879	ENSP00000364163:A1879T	ENSP00000364163:A1879T	A	-	1	0	NOTCH4	32271569	0.046000	0.20272	0.001000	0.08648	0.016000	0.09150	0.250000	0.18235	0.105000	0.17753	0.455000	0.32223	GCT		0.716	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			25	100	0	0	0	1	0	25	100				
CLEC12B	387837	broad.mit.edu	37	12	10168306	10168306	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10168306C>A	ENST00000338896.5	+	5	788	c.660C>A	c.(658-660)ggC>ggA	p.G220G	CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Silent_p.G220G|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	220	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GGGAAGATGGCTCTGTTCCCT	0.408																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(658-660)ggC>ggA		C-type lectin domain family 12, member B							150.0	140.0	143.0					12																	10168306		2203	4300	6503	SO:0001819	synonymous_variant	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10168306C>A	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.660C>A	12.37:g.10168306C>A						RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Silent_p.G220G	p.G220G	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			5	788	+			220			C-type lectin.		Q6UWF2|Q6ZRG0	Silent	SNP	ENST00000338896.5	37	c.660C>A	CCDS44830.1																																																																																				0.408	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		114	423	1	0	3.0332e-58	1	3.802e-58	114	423				
TSHR	7253	broad.mit.edu	37	14	81609861	81609861	+	Missense_Mutation	SNP	G	G	A	rs201463943		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609861G>A	ENST00000541158.2	+	11	1781	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D487N			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	487					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCATGCCATCGACTGGCAGAC	0.552			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1459-1461)Gac>Aac		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)	G	ASN/ASP	0,4406		0,0,2203	548.0	397.0	448.0		1459	5.6	1.0	14		448	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHR	NM_000369.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	487/765	81609861	1,13005	2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609861G>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1459G>A	14.37:g.81609861G>A	ENSP00000441235:p.Asp487Asn					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D487N	p.D487N			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1781	+			487					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1459G>A	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453515	0.63290	0.0	1.16E-4	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.85484	-1.99;-1.99	5.64	5.64	0.86602	.	0.084418	0.85682	D	0.000000	D	0.84147	0.5408	M	0.74881	2.28	0.58432	D	0.999999	B	0.34161	0.439	B	0.32149	0.141	D	0.84814	0.0792	10	0.66056	D	0.02	.	12.9763	0.58538	0.074:0.0:0.926:0.0	.	487	F5GYU5	.	N	487;134;487	ENSP00000441235:D487N;ENSP00000298171:D487N	ENSP00000298171:D487N	D	+	1	0	TSHR	80679614	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	8.061000	0.89467	2.664000	0.90586	0.561000	0.74099	GAC		0.552	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		85	295	0	0	0	1	0	85	295				
NELFB	25920	broad.mit.edu	37	9	140167012	140167012	+	Missense_Mutation	SNP	G	G	A	rs368165032		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140167012G>A	ENST00000343053.4	+	12	1878	c.1541G>A	c.(1540-1542)aGg>aAg	p.R514K		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	514					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGCACCCCAGGGTGGCCCCG	0.687																																						ENST00000343053.4																			0											c.(1540-1542)aGg>aAg		negative elongation factor complex member B			LYS/ARG	1,4401		0,1,2200	23.0	22.0	22.0		1541	3.7	1.0	9		22	0,8596		0,0,4298	no	missense	COBRA1	NM_015456.3	26	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	514/581	140167012	1,12997	2201	4298	6499	SO:0001583	missense	25920							g.chr9:140167012G>A	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1541G>A	9.37:g.140167012G>A	ENSP00000339495:p.Arg514Lys						p.R514K	NM_015456.3	NP_056271.2					12	1878	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1541G>A	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	g	9.414	1.081248	0.20309	2.27E-4	0.0	ENSG00000188986	ENST00000343053	.	.	.	4.76	3.72	0.42706	.	0.049229	0.85682	D	0.000000	T	0.06416	0.0165	N	0.00246	-1.78	0.31905	N	0.615462	B	0.02656	0.0	B	0.04013	0.001	T	0.35549	-0.9784	9	0.02654	T	1	-44.3331	3.7135	0.08428	0.3558:0.0:0.6442:0.0	.	514	Q8WX92	NELFB_HUMAN	K	514	.	ENSP00000339495:R514K	R	+	2	0	COBRA1	139286833	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	5.735000	0.68587	2.200000	0.70718	0.479000	0.44913	AGG		0.687	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		23	82	0	0	0	1	0	23	82				
UBTD2	92181	broad.mit.edu	37	5	171638856	171638856	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638856T>C	ENST00000393792.2	-	3	1088	c.683A>G	c.(682-684)aAc>aGc	p.N228S		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	228						cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGTTGGGTTCTGCACAGG	0.478																																						ENST00000393792.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10						c.(682-684)aAc>aGc		ubiquitin domain containing 2							53.0	46.0	48.0					5																	171638856		2203	4300	6503	SO:0001583	missense	92181					cytoplasm		g.chr5:171638856T>C	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.683A>G	5.37:g.171638856T>C	ENSP00000377381:p.Asn228Ser						p.N228S	NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	1088	-	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	228					Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	37	c.683A>G	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	T	4.827	0.153697	0.09185	.	.	ENSG00000168246	ENST00000393792	T	0.42513	0.97	5.96	-2.33	0.06724	.	0.396616	0.32204	N	0.006425	T	0.24084	0.0583	L	0.36672	1.1	0.23095	N	0.998302	B	0.02656	0.0	B	0.01281	0.0	T	0.11817	-1.0572	10	0.24483	T	0.36	.	5.6948	0.17849	0.0:0.2646:0.2396:0.4957	.	228	Q8WUN7	UBTD2_HUMAN	S	228	ENSP00000377381:N228S	ENSP00000377381:N228S	N	-	2	0	UBTD2	171571461	1.000000	0.71417	0.035000	0.18076	0.560000	0.35617	0.891000	0.28309	-0.635000	0.05531	-0.250000	0.11733	AAC		0.478	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		57	214	0	0	0	1	0	57	214				
KIAA1191	57179	broad.mit.edu	37	5	175774795	175774795	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175774795C>A	ENST00000298569.4	-	9	1259	c.726G>T	c.(724-726)caG>caT	p.Q242H	KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Missense_Mutation_p.Q223H	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	242						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CTCGGTAGGCCTGGGTGGCAA	0.512																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(724-726)caG>caT		KIAA1191							60.0	64.0	63.0					5																	175774795		2203	4300	6503	SO:0001583	missense	57179						protein binding	g.chr5:175774795C>A	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.726G>T	5.37:g.175774795C>A	ENSP00000298569:p.Gln242His					KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Missense_Mutation_p.Q223H	p.Q242H	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1259	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	242					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	c.726G>T	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491684	0.64074	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164	.	.	.	5.1	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.73962	2.25	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.75833	-0.3178	9	0.87932	D	0	-15.3368	10.9192	0.47154	0.0:0.7879:0.0:0.2121	.	242	Q96A73	K1191_HUMAN	H	242;223;242	.	ENSP00000298569:Q242H	Q	-	3	2	KIAA1191	175707401	0.994000	0.37717	0.997000	0.53966	0.835000	0.47333	2.837000	0.48191	0.657000	0.30906	-0.150000	0.13652	CAG		0.512	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		13	524	1	0	0.00136819	1	0.0013818	13	524				
KIAA1598	57698	broad.mit.edu	37	10	118738812	118738812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738812G>A	ENST00000355371.4	-	2	563	c.66C>T	c.(64-66)ggC>ggT	p.G22G	KIAA1598_ENST00000392903.2_Silent_p.G22G|KIAA1598_ENST00000260777.10_Silent_p.G22G|KIAA1598_ENST00000392901.4_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTTCATATTCGCCTATTGCTA	0.408																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(64-66)ggC>ggT		KIAA1598							115.0	109.0	111.0					10																	118738812		2203	4300	6503	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118738812G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.66C>T	10.37:g.118738812G>A						KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.G22G|KIAA1598_ENST00000260777.10_Silent_p.G22G	p.G22G	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	2	563	-			22					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.66C>T	CCDS44482.1																																																																																				0.408	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		41	256	0	0	0	1	0	41	256				
ZNF195	7748	broad.mit.edu	37	11	3381489	3381489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381489C>T	ENST00000399602.4	-	6	875	c.749G>A	c.(748-750)gGc>gAc	p.G250D	ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Missense_Mutation_p.G178D|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAGGATTTGCCACATTCTTG	0.299																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(532-534)gGc>gAc		zinc finger protein 195							55.0	54.0	55.0					11																	3381489		1934	4156	6090	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381489C>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.749G>A	11.37:g.3381489C>T	ENSP00000382511:p.Gly250Asp					ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000399602.4_Missense_Mutation_p.G250D|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D|ZNF195_ENST00000438262.2_3'UTR	p.G178D	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	637	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	250			Spacer.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.533G>A	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646014	0.29246	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.34472	2.04;2.04;2.04;2.04;2.04;2.04;1.36	0.693	-0.389	0.12455	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.64630	1.985	0.26048	N	0.981527	D;P;D;B;D;B	0.89917	0.997;0.745;1.0;0.445;1.0;0.445	D;B;D;B;D;B	0.87578	0.994;0.095;0.996;0.058;0.998;0.058	T	0.35001	-0.9806	9	0.62326	D	0.03	.	3.7929	0.08728	0.0:0.4377:0.0:0.5623	.	231;109;227;182;250;178	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	D	178;250;182;182;227;231;205	ENSP00000346613:G178D;ENSP00000382511:G250D;ENSP00000344483:G182D;ENSP00000387998:G182D;ENSP00000005082:G227D;ENSP00000435828:G231D;ENSP00000431937:G205D	ENSP00000005082:G227D	G	-	2	0	ZNF195	3338065	0.810000	0.29049	0.015000	0.15790	0.768000	0.43524	0.518000	0.22847	-0.180000	0.10637	0.313000	0.20887	GGC		0.299	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			54	246	0	0	0	1	0	54	246				
C17orf85	55421	broad.mit.edu	37	17	3717766	3717766	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3717766G>A	ENST00000389005.4	-	12	1504	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	C17orf85_ENST00000158149.3_Missense_Mutation_p.R213W	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	493							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TTTCCTAACCGCTGGCGTATA	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(637-639)Cgg>Tgg		chromosome 17 open reading frame 85							73.0	64.0	67.0					17																	3717766		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3717766G>A		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1477C>T	17.37:g.3717766G>A	ENSP00000373657:p.Arg493Trp					C17orf85_ENST00000389005.4_Missense_Mutation_p.R493W	p.R213W			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	13	1532	-			493					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.637C>T	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993565	0.74703	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.57	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66551	-0.5895	9	0.87932	D	0	-11.0123	11.1156	0.48258	0.0:0.0:0.5113:0.4887	.	493	Q53F19	CQ085_HUMAN	W	493;213	.	ENSP00000158149:R213W	R	-	1	2	C17orf85	3664515	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.328000	0.43867	1.470000	0.48102	-0.321000	0.08615	CGG		0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		7	251	0	0	0	1	0	7	251				
DGKZ	8525	broad.mit.edu	37	11	46399765	46399765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46399765C>A	ENST00000454345.1	+	27	3049	c.2924C>A	c.(2923-2925)gCt>gAt	p.A975D	DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D|MDK_ENST00000405308.2_5'Flank|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	975					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CAAGGGGATGCTGCACCCCCT	0.657																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2923-2925)gCt>gAt		diacylglycerol kinase, zeta							49.0	42.0	45.0					11																	46399765		2197	4297	6494	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46399765C>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2924C>A	11.37:g.46399765C>A	ENSP00000412178:p.Ala975Asp					DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D	p.A975D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	27	3049	+			975					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2924C>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010579	0.19277	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.24908	2.37;2.56;2.55;2.6;2.81;3.56;2.37;2.43;2.55;1.83	3.71	2.75	0.32379	.	0.914548	0.09154	U	0.841129	T	0.19525	0.0469	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.14438	0.0;0.01;0.001;0.0;0.0;0.0;0.002;0.006;0.003	B;B;B;B;B;B;B;B;B	0.11329	0.001;0.004;0.001;0.001;0.001;0.002;0.005;0.003;0.006	T	0.31861	-0.9928	10	0.13108	T	0.6	.	8.3404	0.32241	0.2347:0.7653:0.0:0.0	.	764;752;730;787;975;786;787;753;803	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	D	803;565;753;752;139;787;786;787;764;975	ENSP00000343065:A803D;ENSP00000434719:A565D;ENSP00000378941:A753D;ENSP00000436273:A752D;ENSP00000438417:A139D;ENSP00000436291:A787D;ENSP00000395684:A786D;ENSP00000391021:A787D;ENSP00000320340:A764D;ENSP00000412178:A975D	ENSP00000320340:A764D	A	+	2	0	DGKZ	46356341	0.000000	0.05858	0.018000	0.16275	0.090000	0.18270	0.707000	0.25704	1.090000	0.41315	0.561000	0.74099	GCT		0.657	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		11	54	1	0	1.61879e-10	1	1.71755e-10	11	54				
PNMAL1	55228	broad.mit.edu	37	19	46974141	46974141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46974141C>A	ENST00000313683.10	-	2	457	c.152G>T	c.(151-153)gGc>gTc	p.G51V	PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	51										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gcggtacgggcccagtgggga	0.542																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(151-153)gGc>gTc		paraneoplastic Ma antigen family-like 1							72.0	59.0	64.0					19																	46974141		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46974141C>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.152G>T	19.37:g.46974141C>A	ENSP00000318131:p.Gly51Val					PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V	p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	457	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	51					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.152G>T	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529399	0.64860	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.15256	2.44;2.44	3.8	3.8	0.43715	.	0.000000	0.41605	D	0.000845	T	0.39172	0.1068	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.17623	-1.0363	10	0.56958	D	0.05	-13.2325	11.4785	0.50312	0.0:1.0:0.0:0.0	.	51;51	Q86V59-2;Q86V59	.;PNML1_HUMAN	V	51	ENSP00000410273:G51V;ENSP00000318131:G51V	ENSP00000318131:G51V	G	-	2	0	PNMAL1	51665981	0.999000	0.42202	0.933000	0.37362	0.704000	0.40688	3.328000	0.52052	2.421000	0.82119	0.561000	0.74099	GGC		0.542	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		34	202	1	0	2.08457e-15	1	2.27777e-15	34	202				
GAK	2580	broad.mit.edu	37	4	877192	877192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:877192G>A	ENST00000314167.4	-	13	1425	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	GAK_ENST00000511163.1_Missense_Mutation_p.R360W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	439	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGGAACAACCGCACATCTTCG	0.577																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1315-1317)Cgg>Tgg		cyclin G associated kinase							203.0	170.0	181.0					4																	877192		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:877192G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1315C>T	4.37:g.877192G>A	ENSP00000314499:p.Arg439Trp					GAK_ENST00000511163.1_Missense_Mutation_p.R360W	p.R439W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	13	1425	-			439			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1315C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029078	0.54790	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98567	-5.0;-5.0	5.34	4.48	0.54585	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.968;0.997;0.995	D	0.99548	1.0965	10	0.87932	D	0	-36.7377	12.9889	0.58608	0.0:0.0:0.8372:0.1628	.	360;360;439;335	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	439;360	ENSP00000314499:R439W;ENSP00000421361:R360W	ENSP00000314499:R439W	R	-	1	2	GAK	867192	1.000000	0.71417	0.451000	0.26982	0.012000	0.07955	3.165000	0.50778	1.208000	0.43306	0.591000	0.81541	CGG		0.577	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		89	508	0	0	0	1	0	89	508				
NID1	4811	broad.mit.edu	37	1	236212087	236212087	+	Missense_Mutation	SNP	G	G	A	rs200351205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212087G>A	ENST00000264187.6	-	2	510	c.428C>T	c.(427-429)cCg>cTg	p.P143L	NID1_ENST00000366595.3_Missense_Mutation_p.P143L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	143	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGAGATCTCCGGGAACCCTCT	0.577																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(427-429)cCg>cTg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)	G	LEU/PRO	0,4406		0,0,2203	59.0	61.0	60.0		428	3.9	0.9	1		60	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NID1	NM_002508.2	98	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	143/1248	236212087	4,13002	2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236212087G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.428C>T	1.37:g.236212087G>A	ENSP00000264187:p.Pro143Leu					NID1_ENST00000366595.3_Missense_Mutation_p.P143L	p.P143L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		2	510	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	143			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.428C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257823	0.59321	0.0	4.65E-4	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.23348	1.91;1.91	4.81	3.9	0.45041	Nidogen, extracellular domain (2);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.817	T	0.57991	-0.7715	10	0.66056	D	0.02	.	13.0868	0.59146	0.0774:0.0:0.9226:0.0	.	143;143	P14543-2;P14543	.;NID1_HUMAN	L	143	ENSP00000264187:P143L;ENSP00000355554:P143L	ENSP00000264187:P143L	P	-	2	0	NID1	234278710	1.000000	0.71417	0.862000	0.33874	0.736000	0.42039	6.526000	0.73799	1.255000	0.44051	0.655000	0.94253	CCG		0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		83	218	0	0	0	1	0	83	218				
GMPPA	29926	broad.mit.edu	37	2	220370767	220370767	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220370767C>A	ENST00000358215.3	+	11	1335	c.966C>A	c.(964-966)agC>agA	p.S322R	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R|GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	322					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)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCCGGGAGAGCATCGTCCTCC	0.637																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(964-966)agC>agA		GDP-mannose pyrophosphorylase A							43.0	36.0	38.0					2																	220370767		2202	4299	6501	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220370767C>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.966C>A	2.37:g.220370767C>A	ENSP00000350949:p.Ser322Arg					GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R	p.S322R	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	11	1335	+		Renal(207;0.0183)	322					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.966C>A	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846470	0.51164	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	3.93	2.06	0.26882	Hexapeptide transferase, conserved site (1);	0.176776	0.49916	D	0.000126	D	0.94614	0.8264	M	0.85630	2.765	0.58432	D	0.999999	P;B	0.35493	0.505;0.391	B;B	0.41691	0.364;0.119	D	0.92854	0.6300	10	0.72032	D	0.01	5.0339	10.2762	0.43512	0.0:0.8438:0.0:0.1562	.	375;322	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	R	322;375;322;322;322	ENSP00000315925:S322R;ENSP00000363027:S375R;ENSP00000350949:S322R;ENSP00000363016:S322R;ENSP00000340760:S322R	ENSP00000315925:S322R	S	+	3	2	GMPPA	220079011	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.844000	0.48246	0.402000	0.25451	0.552000	0.68991	AGC		0.637	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		14	59	1	0	3.27435e-08	1	3.41456e-08	14	59				
NOD1	10392	broad.mit.edu	37	7	30496420	30496420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30496420G>T	ENST00000222823.4	-	4	643	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	40	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGTCCACCAGACACTGAGTA	0.527																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(118-120)Ctg>Atg		nucleotide-binding oligomerization domain containing 1							178.0	153.0	161.0					7																	30496420		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30496420G>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.118C>A	7.37:g.30496420G>T	ENSP00000222823:p.Leu40Met					NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	p.L40M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			4	643	-			40			CARD.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.118C>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887516	0.72410	.	.	ENSG00000106100	ENST00000222823;ENST00000423334;ENST00000411552;ENST00000419799;ENST00000413433;ENST00000419601	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.8	4.92	0.64577	DEATH-like (2);Caspase Recruitment (2);	0.070867	0.56097	D	0.000035	T	0.50222	0.1603	M	0.73962	2.25	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.986	T	0.39078	-0.9631	10	0.26408	T	0.33	.	9.7691	0.40578	0.1422:0.0:0.8578:0.0	.	40;40	B4DTU3;Q9Y239	.;NOD1_HUMAN	M	40	ENSP00000222823:L40M;ENSP00000409416:L40M;ENSP00000396046:L40M;ENSP00000395551:L40M;ENSP00000399505:L40M	ENSP00000222823:L40M	L	-	1	2	NOD1	30462945	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.014000	0.29950	2.744000	0.94065	0.655000	0.94253	CTG		0.527	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			95	383	1	0	4.4782e-45	1	5.48732e-45	95	383				
PLEKHA7	144100	broad.mit.edu	37	11	16877362	16877362	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16877362C>A	ENST00000355661.3	-	5	415	c.405G>T	c.(403-405)aaG>aaT	p.K135N	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.K135N|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.K135N			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	135					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGGTCCAGGCTTGGCCTCCA	0.522																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(403-405)aaG>aaT		pleckstrin homology domain containing, family A member 7							153.0	148.0	150.0					11																	16877362		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16877362C>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.405G>T	11.37:g.16877362C>A	ENSP00000347883:p.Lys135Asn					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.K135N|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.K135N	p.K135N			Q6IQ23	PKHA7_HUMAN			5	415	-			135					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.405G>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354909	0.41700	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.23348	3.22;3.22;3.22;1.91	5.65	1.41	0.22369	.	0.370841	0.31268	N	0.007950	T	0.13457	0.0326	L	0.27053	0.805	0.31977	N	0.606381	B;P	0.36282	0.282;0.546	B;B	0.31812	0.07;0.136	T	0.14811	-1.0459	10	0.33940	T	0.23	-26.8122	6.8654	0.24091	0.0:0.4738:0.0:0.5262	.	135;135	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	N	135;135;135;29	ENSP00000435389:K135N;ENSP00000347883:K135N;ENSP00000416895:K135N;ENSP00000435806:K29N	ENSP00000347883:K135N	K	-	3	2	PLEKHA7	16833938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.875000	0.28079	0.449000	0.26747	0.655000	0.94253	AAG		0.522	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		14	825	1	0	2.31682e-05	1	2.36778e-05	14	825				
FAM151B	167555	broad.mit.edu	37	5	79837528	79837528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79837528C>A	ENST00000282226.4	+	6	863	c.708C>A	c.(706-708)aaC>aaA	p.N236K	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAAATGATAACTATTCCGTTG	0.323																																						ENST00000282226.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7						c.(706-708)aaC>aaA		family with sequence similarity 151, member B							69.0	71.0	70.0					5																	79837528		2203	4297	6500	SO:0001583	missense	167555							g.chr5:79837528C>A		CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.708C>A	5.37:g.79837528C>A	ENSP00000282226:p.Asn236Lys					FAM151B_ENST00000511718.1_3'UTR	p.N236K	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)	6	863	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	236					A2RRE4	Missense_Mutation	SNP	ENST00000282226.4	37	c.708C>A	CCDS4051.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530438	0.27387	.	.	ENSG00000152380	ENST00000282226	T	0.10573	2.86	5.74	1.3	0.21679	.	0.850415	0.10963	N	0.614717	T	0.04588	0.0125	N	0.05383	-0.06	0.24922	N	0.991979	B	0.02656	0.0	B	0.04013	0.001	T	0.42632	-0.9440	10	0.28530	T	0.3	-11.1392	3.0276	0.06096	0.4643:0.3169:0.1262:0.0925	.	236	Q6UXP7	F151B_HUMAN	K	236	ENSP00000282226:N236K	ENSP00000282226:N236K	N	+	3	2	FAM151B	79873284	0.998000	0.40836	0.984000	0.44739	0.991000	0.79684	0.862000	0.27899	0.296000	0.22592	0.585000	0.79938	AAC		0.323	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1	NM_205548		44	191	1	0	7.90463e-13	1	8.50842e-13	44	191				
GJB6	10804	broad.mit.edu	37	13	20797436	20797436	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797436T>G	ENST00000356192.6	-	5	804	c.184A>C	c.(184-186)Aat>Cat	p.N62H	GJB6_ENST00000241124.6_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H|GJB6_ENST00000400066.3_Missense_Mutation_p.N62H	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	62					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TAGCACACATTTTTGCATCCC	0.567																																						ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9						c.(184-186)Aat>Cat		gap junction protein, beta 6, 30kDa							100.0	78.0	86.0					13																	20797436		2203	4300	6503	SO:0001583	missense	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797436T>G	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.184A>C	13.37:g.20797436T>G	ENSP00000348521:p.Asn62His					GJB6_ENST00000400066.3_Missense_Mutation_p.N62H|GJB6_ENST00000241124.6_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H	p.N62H	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	804	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	62					B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	c.184A>C	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916291	0.52546	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	5.38	5.38	0.77491	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.94142	3.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97903	1.0304	10	0.87932	D	0	.	15.4199	0.75003	0.0:0.0:0.0:1.0	.	62	O95452	CXB6_HUMAN	H	62	ENSP00000241124:N62H;ENSP00000382938:N62H;ENSP00000382939:N62H;ENSP00000348521:N62H	ENSP00000241124:N62H	N	-	1	0	GJB6	19695436	1.000000	0.71417	0.986000	0.45419	0.025000	0.11179	7.991000	0.88244	2.030000	0.59900	0.533000	0.62120	AAT		0.567	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			7	282	0	0	0	1	0	7	282				
CYBRD1	79901	broad.mit.edu	37	2	172411148	172411148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172411148G>A	ENST00000321348.4	+	4	870	c.672G>A	c.(670-672)tgG>tgA	p.W224*	CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*|CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	224					cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GACCGCAATGGAAACGTCCTA	0.498																																						ENST00000321348.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						c.(670-672)tgG>tgA		cytochrome b reductase 1							97.0	89.0	91.0					2																	172411148		2203	4300	6503	SO:0001587	stop_gained	79901				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr2:172411148G>A	AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.672G>A	2.37:g.172411148G>A	ENSP00000319141:p.Trp224*					CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*|CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K	p.W224*	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN			4	870	+			224					B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Nonsense_Mutation	SNP	ENST00000321348.4	37	c.672G>A	CCDS2244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230925|4.230925	0.79688|0.79688	.|.	.|.	ENSG00000071967|ENSG00000071967	ENST00000375252|ENST00000409484;ENST00000321348	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46580|.	0.1400|.	.|.	.|.	.|.	0.38973|0.38973	D|D	0.958784|0.958784	D|.	0.63046|.	0.992|.	P|.	0.61592|.	0.891|.	T|.	0.40496|.	-0.9560|.	7|.	0.87932|0.02654	D|T	0|1	-0.5167|-0.5167	18.6553|18.6553	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155|.	Q53TN4-2|.	.|.	K|X	155|166;224	.|.	ENSP00000364401:E155K|ENSP00000319141:W224X	E|W	+|+	1|3	0|0	CYBRD1|CYBRD1	172119394|172119394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.495000|8.495000	0.90481|0.90481	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.498	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		65	183	0	0	0	1	0	65	183				
ITIH5	80760	broad.mit.edu	37	10	7682790	7682790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682790C>T	ENST00000256861.6	-	4	406	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	110	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTGTAATTTCGCCCTGATAC	0.373																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(328-330)Gaa>Aaa		inter-alpha-trypsin inhibitor heavy chain family, member 5							226.0	219.0	221.0					10																	7682790		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7682790C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.328G>A	10.37:g.7682790C>T	ENSP00000256861:p.Glu110Lys					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K	p.E110K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			4	406	-			110			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.328G>A		.	.	.	.	.	.	.	.	.	.	C	17.14	3.313441	0.60414	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24350	1.86;1.86;1.86	5.71	4.81	0.61882	Vault protein inter-alpha-trypsin (2);	0.416738	0.28853	N	0.013929	T	0.17916	0.0430	.	.	.	0.42695	D	0.993593	P;P	0.46656	0.574;0.882	B;B	0.36289	0.036;0.221	T	0.02167	-1.1202	9	0.34782	T	0.22	-30.6759	12.0934	0.53739	0.0:0.9198:0.0:0.0802	.	110;110	G5E9D8;Q86UX2	.;ITIH5_HUMAN	K	110	ENSP00000256861:E110K;ENSP00000380333:E110K;ENSP00000380332:E110K	ENSP00000256861:E110K	E	-	1	0	ITIH5	7722796	0.998000	0.40836	0.999000	0.59377	0.777000	0.43975	3.418000	0.52721	2.678000	0.91216	0.563000	0.77884	GAA		0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		89	621	0	0	0	1	0	89	621				
KPNA5	3841	broad.mit.edu	37	6	117037383	117037383	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117037383T>C	ENST00000368564.1	+	8	806	c.658T>C	c.(658-660)Tta>Cta	p.L220L	KPNA5_ENST00000356348.1_Splice_Site_p.L220L			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	217	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCTTGGCAGGTTATTAACAAA	0.318																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e8-1		karyopherin alpha 5 (importin alpha 6)							53.0	56.0	55.0					6																	117037383		2203	4300	6503	SO:0001630	splice_region_variant	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117037383T>C	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.657-1T>C	6.37:g.117037383T>C						KPNA5_ENST00000356348.1_Splice_Site_p.L220_splice	p.L220_splice			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	8	806	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	217			NLS binding site (major) (By similarity).		B2RAI5|Q86X23	Splice_Site	SNP	ENST00000368564.1	37	c.656_splice	CCDS5111.1																																																																																				0.318	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	Silent	49	219	0	0	0	1	0	49	219				
GLRA3	8001	broad.mit.edu	37	4	175636706	175636706	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175636706A>C	ENST00000274093.3	-	5	1009	c.507T>G	c.(505-507)ctT>ctG	p.L169L	GLRA3_ENST00000340217.5_Silent_p.L169L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	169					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTGGACAGGAAAGTGTTAATG	0.289																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(505-507)ctT>ctG		glycine receptor, alpha 3	Glycine(DB00145)						72.0	75.0	74.0					4																	175636706		2203	4293	6496	SO:0001819	synonymous_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175636706A>C	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.507T>G	4.37:g.175636706A>C						GLRA3_ENST00000340217.5_Silent_p.L169L	p.L169L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	5	1009	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	169					D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.507T>G	CCDS3822.1																																																																																				0.289	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			64	210	0	0	0	1	0	64	210				
BRINP1	1620	broad.mit.edu	37	9	121929970	121929970	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121929970A>T	ENST00000265922.3	-	8	2139	c.1678T>A	c.(1678-1680)Ttc>Atc	p.F560I	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	560					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TAGACAAAGAACATGGGGTCC	0.557																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1678-1680)Ttc>Atc									42.0	41.0	42.0					9																	121929970		2203	4299	6502	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929970A>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1678T>A	9.37:g.121929970A>T	ENSP00000265922:p.Phe560Ile					DBC1_ENST00000482797.1_Intron	p.F560I	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2139	-			560					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1678T>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977209	0.53720	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.12984	2.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.40543	1.245	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.02184	-1.1199	10	0.19147	T	0.46	-23.7966	15.8802	0.79197	1.0:0.0:0.0:0.0	.	560	O60477	DBC1_HUMAN	I	560	ENSP00000265922:F560I	ENSP00000265922:F560I	F	-	1	0	DBC1	120969791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.199000	0.65152	2.145000	0.66743	0.533000	0.62120	TTC		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		17	257	0	0	0	1	0	17	257				
RMND5B	64777	broad.mit.edu	37	5	177569660	177569660	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177569660G>A	ENST00000515098.1	+	5	567	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RMND5B_ENST00000542098.1_Silent_p.V59V|RMND5B_ENST00000313386.4_Silent_p.V72V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	72										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGATACGGTGCAGAAACTGG	0.577																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(214-216)gtG>gtA		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							111.0	108.0	109.0					5																	177569660		2203	4300	6503	SO:0001819	synonymous_variant	64777							g.chr5:177569660G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.216G>A	5.37:g.177569660G>A						RMND5B_ENST00000313386.4_Silent_p.V72V|RMND5B_ENST00000542098.1_Silent_p.V59V	p.V72V			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	567	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	72					Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	37	c.216G>A	CCDS4431.1																																																																																				0.577	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		184	494	0	0	0	1	0	184	494				
PITRM1	10531	broad.mit.edu	37	10	3205979	3205979	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3205979C>T	ENST00000224949.4	-	7	763	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PITRM1_ENST00000451104.2_Silent_p.P211P|PITRM1_ENST00000380989.2_Silent_p.P243P|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	243					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATGTAAGCTCCGGGATGCACA	0.483																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(727-729)ccG>ccA		pitrilysin metallopeptidase 1							127.0	127.0	127.0					10																	3205979		1962	4156	6118	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3205979C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.729G>A	10.37:g.3205979C>T						PITRM1_ENST00000451104.2_Silent_p.P211P|PITRM1_ENST00000224949.4_Silent_p.P243P|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	p.P243P	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			7	767	-			211					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.729G>A	CCDS59208.1																																																																																				0.483	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			67	313	0	0	0	1	0	67	313				
PAN2	9924	broad.mit.edu	37	12	56722398	56722398	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56722398C>A	ENST00000425394.2	-	3	686	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	PAN2_ENST00000257931.5_Missense_Mutation_p.A104S|PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CGCTCCAAGGCTGGGCCAAAA	0.512																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(310-312)Gcc>Tcc		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							55.0	53.0	53.0					12																	56722398		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722398C>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.310G>T	12.37:g.56722398C>A	ENSP00000401721:p.Ala104Ser					PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S|PAN2_ENST00000257931.5_Missense_Mutation_p.A104S	p.A104S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			3	686	-			104						Missense_Mutation	SNP	ENST00000425394.2	37	c.310G>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569189	0.28003	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.07	2.28	0.28536	WD40 repeat-like-containing domain (1);	0.360372	0.31612	N	0.007360	T	0.16128	0.0388	N	0.04090	-0.28	0.33195	D	0.551396	B;B;B	0.16802	0.019;0.019;0.011	B;B;B	0.15870	0.014;0.014;0.006	T	0.35649	-0.9780	10	0.02654	T	1	-4.814	9.5316	0.39198	0.0:0.766:0.0:0.234	.	104;104;104	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	S	104	ENSP00000401721:A104S;ENSP00000388231:A104S;ENSP00000257931:A104S;ENSP00000449861:A104S	ENSP00000257931:A104S	A	-	1	0	PAN2	55008665	0.789000	0.28775	0.937000	0.37676	0.963000	0.63663	1.324000	0.33712	0.419000	0.25927	0.650000	0.86243	GCC		0.512	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		45	198	1	0	1.03325e-14	1	1.12462e-14	45	198				
PEG10	23089	broad.mit.edu	37	7	94293496	94293496	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94293496C>T	ENST00000482108.1	+	2	1107	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	210	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCACGAGGGCCTCAGCGACCA	0.572																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(628-630)Ctc>Ttc		paternally expressed 10							115.0	122.0	119.0					7																	94293496		2097	4213	6310	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293496C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.628C>T	7.37:g.94293496C>T	ENSP00000417587:p.Leu210Phe					PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1107	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		210			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.628C>T	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822762	0.71028	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.44881	0.91;0.91	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.63129	0.2485	M	0.72894	2.215	0.31822	N	0.625821	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68788	-0.5316	9	0.66056	D	0.02	.	14.1258	0.65219	0.0:1.0:0.0:0.0	.	286;210	B4DSP0;Q86TG7	.;PEG10_HUMAN	F	210	ENSP00000417587:L210F;ENSP00000418944:L210F	ENSP00000417587:L210F	L	+	1	0	PEG10	94131432	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	2.473000	0.45145	2.276000	0.75962	0.555000	0.69702	CTC		0.572	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		143	668	0	0	0	1	0	143	668				
BRCA2	675	broad.mit.edu	37	13	32914727	32914727	+	Missense_Mutation	SNP	G	G	A	rs397507835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32914727G>A	ENST00000380152.3	+	11	6468	c.6235G>A	c.(6235-6237)Gtg>Atg	p.V2079M	BRCA2_ENST00000544455.1_Missense_Mutation_p.V2079M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2079					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTTAAGGGAGTGTTAGAGGA	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6235-6237)Gtg>Atg	Homologous recombination	breast cancer 2, early onset							64.0	66.0	65.0					13																	32914727		2203	4298	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914727G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6235G>A	13.37:g.32914727G>A	ENSP00000369497:p.Val2079Met	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.V2079M	p.V2079M	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6462	+		Lung SC(185;0.0262)	2079					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6235G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165768	0.01673	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75260	-0.92;-0.92	5.77	3.39	0.38822	.	0.200919	0.45606	N	0.000349	T	0.40247	0.1109	N	0.02539	-0.55	0.28309	N	0.922762	B	0.02656	0.0	B	0.06405	0.002	T	0.37888	-0.9686	10	0.02654	T	1	.	6.3144	0.21182	0.7241:0.1349:0.141:0.0	.	2079	P51587	BRCA2_HUMAN	M	2079	ENSP00000369497:V2079M;ENSP00000439902:V2079M	ENSP00000369497:V2079M	V	+	1	0	BRCA2	31812727	0.973000	0.33851	1.000000	0.80357	0.778000	0.44026	0.733000	0.26087	1.024000	0.39682	-0.312000	0.09012	GTG		0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		58	345	0	0	0	1	0	58	345				
RPL35	11224	broad.mit.edu	37	9	127620235	127620235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127620235G>A	ENST00000348462.3	-	4	382	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	112					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GGGTACAGCCGCTCCTTCCGC	0.602																																						ENST00000348462.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(334-336)Cgg>Tgg		ribosomal protein L35							48.0	42.0	44.0					9																	127620235		2202	4300	6502	SO:0001583	missense	11224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	g.chr9:127620235G>A	U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"""L ribosomal proteins"""	10344	protein-coding gene	gene with protein product	"""60S ribosomal protein L35"""					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.334C>T	9.37:g.127620235G>A	ENSP00000259469:p.Arg112Trp					RPL35_ENST00000373570.4_3'UTR	p.R112W	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN		GBM - Glioblastoma multiforme(294;0.182)	4	382	-			112					A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	ENST00000348462.3	37	c.334C>T	CCDS6858.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057092	0.76074	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.76	5.76	0.90799	.	0.157858	0.56097	N	0.000023	T	0.64800	0.2631	L	0.49778	1.585	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.58278	-0.7664	9	0.45353	T	0.12	.	19.3119	0.94192	0.0:0.0:1.0:0.0	.	112	P42766	RL35_HUMAN	W	112	.	ENSP00000259469:R112W	R	-	1	2	RPL35	126660056	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.313000	0.65798	2.882000	0.98803	0.655000	0.94253	CGG		0.602	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	NM_007209		53	258	0	0	0	1	0	53	258				
ZNF628	89887	broad.mit.edu	37	19	55992868	55992868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992868G>A	ENST00000598519.1	+	3	861	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF628_ENST00000391718.2_Missense_Mutation_p.R99H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	103					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCCTTCAAGCGCTCCTCTCTG	0.667																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(295-297)cGc>cAc		zinc finger protein 628							43.0	42.0	43.0					19																	55992868		2203	4300	6503	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55992868G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.308G>A	19.37:g.55992868G>A	ENSP00000469591:p.Arg103His					ZNF628_ENST00000598519.1_Missense_Mutation_p.R103H	p.R99H			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	861	+	Breast(117;0.155)		99					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.296G>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	19.05	3.752518	0.69533	.	.	ENSG00000197483	ENST00000391718	T	0.17854	2.25	3.56	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.258407	0.25981	U	0.027075	T	0.20901	0.0503	N	0.13327	0.33	0.36163	D	0.848244	D	0.89917	1.0	D	0.77004	0.989	T	0.13926	-1.0491	10	0.15066	T	0.55	-26.768	13.0316	0.58845	0.0:0.0:1.0:0.0	.	99	Q5EBL2	ZN628_HUMAN	H	99	ENSP00000375598:R99H	ENSP00000375598:R99H	R	+	2	0	ZNF628	60684680	0.006000	0.16342	1.000000	0.80357	0.765000	0.43378	1.379000	0.34340	2.001000	0.58596	0.491000	0.48974	CGC		0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		7	191	0	0	0	1	0	7	191				
FBXO43	286151	broad.mit.edu	37	8	101146101	101146101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101146101C>T	ENST00000428847.2	-	5	2372	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	686					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTGGCTTTGCTGCTCCTCTA	0.443																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(2056-2058)Gca>Aca		F-box protein 43							135.0	130.0	131.0					8																	101146101		1925	4132	6057	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101146101C>T	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.2056G>A	8.37:g.101146101C>T	ENSP00000403293:p.Ala686Thr						p.A686T	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		5	2372	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		686						Missense_Mutation	SNP	ENST00000428847.2	37	c.2056G>A	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442314	0.43326	.	.	ENSG00000156509	ENST00000428847	T	0.34072	1.38	5.15	3.28	0.37604	.	0.347019	0.29362	N	0.012376	T	0.27559	0.0677	L	0.54323	1.7	0.37515	D	0.917302	B	0.23540	0.087	B	0.17433	0.018	T	0.11397	-1.0589	10	0.21014	T	0.42	-5.4613	5.6701	0.17717	0.1365:0.6218:0.0:0.2417	.	686	Q4G163	FBX43_HUMAN	T	686	ENSP00000403293:A686T	ENSP00000403293:A686T	A	-	1	0	FBXO43	101215277	0.961000	0.32948	1.000000	0.80357	0.987000	0.75469	0.589000	0.23939	0.616000	0.30141	0.655000	0.94253	GCA		0.443	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		18	430	0	0	0	1	0	18	430				
ZP4	57829	broad.mit.edu	37	1	238050750	238050750	+	Missense_Mutation	SNP	G	G	A	rs140243550	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238050750G>A	ENST00000366570.4	-	5	823	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	222	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.A222V(1)|p.A222G(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTTACACGCACTGTCATT	0.517																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			2	Substitution - Missense(2)	p.A222V(1)|p.A222G(1)	ovary(1)|endometrium(1)	breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(664-666)gCg>gTg		zona pellucida glycoprotein 4							172.0	160.0	164.0					1																	238050750		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050750G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.665C>T	1.37:g.238050750G>A	ENSP00000355529:p.Ala222Val					RP11-193H5.1_ENST00000450451.1_RNA	p.A222V	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	823	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	222			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.665C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	3.074	-0.190522	0.06299	.	.	ENSG00000116996	ENST00000366570	D	0.82433	-1.61	4.93	-8.3	0.01005	Zona pellucida sperm-binding protein (3);	1.364050	0.04810	N	0.435104	T	0.61837	0.2379	N	0.16368	0.405	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.48854	-0.8998	10	0.31617	T	0.26	-0.9556	0.9693	0.01412	0.2043:0.2773:0.3177:0.2008	.	222	Q12836	ZP4_HUMAN	V	222	ENSP00000355529:A222V	ENSP00000355529:A222V	A	-	2	0	ZP4	236117373	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.928000	0.01560	-1.824000	0.01209	-2.892000	0.00095	GCG		0.517	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			130	367	0	0	0	1	0	130	367				
ATP12A	479	broad.mit.edu	37	13	25268581	25268581	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25268581G>T	ENST00000381946.3	+	11	1544		c.e11-1		ATP12A_ENST00000218548.6_Splice_Site			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide						ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTGATTCCCAGAAAGCTGTGA	0.403											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.e11-1		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						105.0	114.0	111.0					13																	25268581		2203	4300	6503	SO:0001630	splice_region_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25268581G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1378-1G>T	13.37:g.25268581G>T			OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ATP12A_ENST00000381946.3_Splice_Site		NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	11	1728	+		Lung SC(185;0.0225)|Breast(139;0.077)						Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Splice_Site	SNP	ENST00000381946.3	37		CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768356	0.69878	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0052	0.86391	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP12A	24166581	1.000000	0.71417	0.963000	0.40424	0.755000	0.42902	9.199000	0.95003	2.620000	0.88729	0.563000	0.77884	.		0.403	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	Intron	111	619	1	0	1.39691e-52	1	1.73782e-52	111	619				
VWA9	81556	broad.mit.edu	37	15	65885863	65885863	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65885863T>G	ENST00000395644.4	-	8	1224	c.889A>C	c.(889-891)Aat>Cat	p.N297H	VWA9_ENST00000567744.1_Missense_Mutation_p.N333H|VWA9_ENST00000431261.2_Missense_Mutation_p.N218H|VWA9_ENST00000420799.2_Missense_Mutation_p.N240H|VWA9_ENST00000313182.2_Missense_Mutation_p.N297H|VWA9_ENST00000569491.1_Missense_Mutation_p.N247H|VWA9_ENST00000442903.3_Missense_Mutation_p.N261H			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	297																	TTGGCTGAATTTTCATCTTCA	0.413																																						ENST00000395644.4																			0											c.(889-891)Aat>Cat		von Willebrand factor A domain containing 9							155.0	122.0	134.0					15																	65885863		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65885863T>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.889A>C	15.37:g.65885863T>G	ENSP00000379006:p.Asn297His					VWA9_ENST00000442903.3_Missense_Mutation_p.N261H|VWA9_ENST00000569491.1_Missense_Mutation_p.N247H|VWA9_ENST00000313182.2_Missense_Mutation_p.N297H|VWA9_ENST00000420799.2_Missense_Mutation_p.N240H|VWA9_ENST00000567744.1_Missense_Mutation_p.N333H|VWA9_ENST00000431261.2_Missense_Mutation_p.N218H	p.N297H							8	1224	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.889A>C		.	.	.	.	.	.	.	.	.	.	T	17.85	3.490460	0.64074	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.65	5.65	0.86999	.	0.140205	0.64402	D	0.000005	T	0.39091	0.1065	N	0.08118	0	0.46798	D	0.999208	P;P;P;P	0.49447	0.924;0.792;0.913;0.85	P;B;B;B	0.44946	0.465;0.35;0.339;0.258	T	0.41413	-0.9510	9	0.41790	T	0.15	-28.3665	16.1778	0.81874	0.0:0.0:0.0:1.0	.	247;261;333;297	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	H	297;297;218;240;261	.	ENSP00000326379:N297H	N	-	1	0	C15orf44	63672916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.342000	0.59341	2.279000	0.76181	0.533000	0.62120	AAT		0.413	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		8	439	0	0	0	1	0	8	439				
PIK3C2G	5288	broad.mit.edu	37	12	18552635	18552635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18552635C>T	ENST00000266497.5	+	14	2084	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PIK3C2G_ENST00000433979.1_Silent_p.F682F|PIK3C2G_ENST00000538779.1_Silent_p.F723F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	682	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTATCGCTTCTACTGCAATA	0.383																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(2044-2046)ttC>ttT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							96.0	94.0	95.0					12																	18552635		1822	4082	5904	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18552635C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2046C>T	12.37:g.18552635C>T						PIK3C2G_ENST00000266497.5_Silent_p.F682F|PIK3C2G_ENST00000538779.1_Silent_p.F723F	p.F682F	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			15	2162	+		Hepatocellular(102;0.194)	682					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.2046C>T	CCDS44839.1																																																																																				0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		69	298	0	0	0	1	0	69	298				
PIK3C2A	5286	broad.mit.edu	37	11	17141433	17141433	+	Missense_Mutation	SNP	C	C	T	rs573278976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17141433C>T	ENST00000265970.7	-	15	2745	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	916	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.A916S(1)|p.A916T(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CAGTTTGGGGCGCTTGCTAAT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15411	0.0		0.0	False		,,,				2504	0.0					ENST00000265970.7																			2	Substitution - Missense(2)	p.A916S(1)|p.A916T(1)	lung(1)|central_nervous_system(1)	central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2746-2748)Gcc>Acc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						112.0	115.0	114.0					11																	17141433		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17141433C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2746G>A	11.37:g.17141433C>T	ENSP00000265970:p.Ala916Thr					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T	p.A916T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			15	2745	-			916					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2746G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549157	0.86127	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.61510	0.1;0.1	5.28	4.37	0.52481	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.057131	0.64402	D	0.000001	T	0.69495	0.3117	L	0.58810	1.83	0.58432	D	0.999999	D	0.76494	0.999	D	0.64042	0.921	T	0.70898	-0.4747	10	0.49607	T	0.09	-7.3232	14.08	0.64914	0.0:0.9268:0.0:0.0732	.	916	O00443	P3C2A_HUMAN	T	916;536	ENSP00000265970:A916T;ENSP00000438687:A536T	ENSP00000265970:A916T	A	-	1	0	PIK3C2A	17098009	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.722000	0.68485	1.228000	0.43614	-0.224000	0.12420	GCC		0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		88	334	0	0	0	1	0	88	334				
TAS2R9	50835	broad.mit.edu	37	12	10962247	10962247	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962247A>C	ENST00000240691.2	-	1	520	c.428T>G	c.(427-429)aTt>aGt	p.I143S	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	143					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACACTAATAATTAAAGAGAT	0.358																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(427-429)aTt>aGt		taste receptor, type 2, member 9							52.0	55.0	54.0					12																	10962247		2203	4298	6501	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962247A>C	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.428T>G	12.37:g.10962247A>C	ENSP00000240691:p.Ile143Ser						p.I143S	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	520	-			143					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.428T>G	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469142	0.26423	.	.	ENSG00000121381	ENST00000240691	T	0.38077	1.16	3.82	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.959327	0.08425	U	0.947811	T	0.29850	0.0746	L	0.52011	1.625	0.09310	N	1	P	0.45078	0.85	B	0.39027	0.288	T	0.24404	-1.0161	10	0.62326	D	0.03	.	5.1001	0.14754	0.6463:0.0:0.3537:0.0	.	143	Q9NYW1	TA2R9_HUMAN	S	143	ENSP00000240691:I143S	ENSP00000240691:I143S	I	-	2	0	TAS2R9	10853514	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.646000	0.01998	0.639000	0.30564	0.528000	0.53228	ATT		0.358	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			47	249	0	0	0	1	0	47	249				
PCBP2	5094	broad.mit.edu	37	12	53861069	53861069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53861069G>A	ENST00000439930.3	+	10	813	c.791G>A	c.(790-792)gGa>gAa	p.G264E	PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000603815.1_Missense_Mutation_p.G264E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	264					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGCAACACCGGATTCAGTGGT	0.463																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(790-792)gGa>gAa		poly(rC) binding protein 2							163.0	139.0	147.0					12																	53861069		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53861069G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.791G>A	12.37:g.53861069G>A	ENSP00000408949:p.Gly264Glu					PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000439930.3_Missense_Mutation_p.G264E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E	p.G264E	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			11	1141	+			264					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.791G>A	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959545	0.74016	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.84;1.41;1.44;1.4;1.41;1.45;1.34;1.34;1.81;1.4;1.4;1.44	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.56187	0.1968	M	0.64404	1.975	0.80722	D	1	P;P;B;B;D;B;B;B;B;B;B	0.63880	0.639;0.73;0.039;0.076;0.993;0.047;0.004;0.039;0.076;0.149;0.023	B;B;B;B;D;B;B;B;B;B;B	0.64595	0.305;0.382;0.067;0.236;0.927;0.082;0.037;0.067;0.104;0.236;0.03	T	0.44559	-0.9320	10	0.26408	T	0.33	.	18.6361	0.91379	0.0:0.0:1.0:0.0	.	233;260;221;264;206;233;229;260;229;264;260	B4DXP5;B4DLC0;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	E	260;229;233;229;264;219;264;206;260;260;221;233;229;233;181;93	ENSP00000446130:G260E;ENSP00000352228:G229E;ENSP00000394116:G233E;ENSP00000390304:G229E;ENSP00000408949:G264E;ENSP00000447670:G219E;ENSP00000352438:G264E;ENSP00000448762:G260E;ENSP00000448927:G260E;ENSP00000449070:G233E;ENSP00000388008:G229E;ENSP00000449062:G233E	ENSP00000352228:G229E	G	+	2	0	PCBP2	52147336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.923000	0.63412	2.702000	0.92279	0.655000	0.94253	GGA		0.463	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		77	329	0	0	0	1	0	77	329				
LILRB2	10288	broad.mit.edu	37	19	54782896	54782896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54782896G>A	ENST00000391749.4	-	6	997	c.726C>T	c.(724-726)acC>acT	p.T242T	LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000391748.1_Silent_p.T242T|LILRB2_ENST00000434421.1_Silent_p.T126T	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	242	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACTGGAGGGTCAGGCTTT	0.602																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(724-726)acC>acT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							96.0	98.0	98.0					19																	54782896		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782896G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.726C>T	19.37:g.54782896G>A						LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000391749.4_Silent_p.T242T|LILRB2_ENST00000434421.1_Silent_p.T126T	p.T242T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	853	-	Ovarian(34;0.19)		242			Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.726C>T	CCDS12886.1																																																																																				0.602	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			17	539	0	0	0	1	0	17	539				
CYP1A2	1544	broad.mit.edu	37	15	75044494	75044494	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044494C>T	ENST00000343932.4	+	5	1135	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	358					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	GCGGCGGCCCCGGCTCTCTGA	0.592																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1072-1074)Cgg>Tgg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						74.0	80.0	78.0					15																	75044494		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75044494C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1072C>T	15.37:g.75044494C>T	ENSP00000342007:p.Arg358Trp						p.R358W	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			5	1135	+			358					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1072C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932500	0.34096	.	.	ENSG00000140505	ENST00000343932	T	0.79554	-1.28	4.71	3.77	0.43336	.	0.397357	0.27402	N	0.019535	T	0.81870	0.4914	M	0.92507	3.315	0.36267	D	0.854938	B	0.34399	0.452	B	0.20767	0.031	D	0.86203	0.1620	10	0.72032	D	0.01	.	12.0606	0.53561	0.3132:0.6867:0.0:0.0	.	358	P05177-2	.	W	358	ENSP00000342007:R358W	ENSP00000342007:R358W	R	+	1	2	CYP1A2	72831547	0.000000	0.05858	0.983000	0.44433	0.560000	0.35617	-0.541000	0.06099	1.156000	0.42514	0.450000	0.29827	CGG		0.592	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		113	612	0	0	0	1	0	113	612				
TRAPPC6A	79090	broad.mit.edu	37	19	45668402	45668402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45668402G>A	ENST00000585934.1	-	2	153	c.135C>T	c.(133-135)ggC>ggT	p.G45G	TRAPPC6A_ENST00000588062.1_Intron|TRAPPC6A_ENST00000006275.4_Silent_p.G59G|TRAPPC6A_ENST00000592647.1_Intron	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	45					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CTAGAGCCTGGCCCACACGGA	0.682																																						ENST00000006275.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8						c.(175-177)ggC>ggT		trafficking protein particle complex 6A							47.0	41.0	43.0					19																	45668402		2202	4296	6498	SO:0001819	synonymous_variant	79090				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr19:45668402G>A	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"""Trafficking protein particle complex"""	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.135C>T	19.37:g.45668402G>A						TRAPPC6A_ENST00000585934.1_Silent_p.G45G|TRAPPC6A_ENST00000588062.1_Intron|TRAPPC6A_ENST00000592647.1_Intron	p.G59G	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	2	195	-		all_neural(266;0.224)|Ovarian(192;0.231)	45					K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Silent	SNP	ENST00000585934.1	37	c.177C>T	CCDS59397.1																																																																																				0.682	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		22	83	0	0	0	1	0	22	83				
PAM	5066	broad.mit.edu	37	5	102343346	102343346	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102343346A>G	ENST00000438793.3	+	19	2670	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	PAM_ENST00000304400.7_Missense_Mutation_p.I734V|PAM_ENST00000455264.2_Missense_Mutation_p.I734V|PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000274392.9_Missense_Mutation_p.I637V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000379787.4_Missense_Mutation_p.I114V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	734	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTATTTGCAATTTCATATAT	0.333																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(2200-2202)Att>Gtt		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						81.0	85.0	84.0					5																	102343346		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102343346A>G	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2200A>G	5.37:g.102343346A>G	ENSP00000396493:p.Ile734Val					PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000274392.9_Missense_Mutation_p.I637V|PAM_ENST00000455264.2_Missense_Mutation_p.I734V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000304400.7_Missense_Mutation_p.I734V|PAM_ENST00000379787.4_Missense_Mutation_p.I114V	p.I734V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	19	2670	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	734			Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.2200A>G	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.315|7.315	0.615794|0.615794	0.14129|0.14129	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	D;D;D;T;D;D;D|.	0.89485|.	-2.52;-2.52;-2.52;0.61;-2.52;-2.52;-2.52|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Six-bladed beta-propeller, TolB-like (1);|.	0.097209|.	0.64402|.	D|.	0.000001|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.05306|0.05306	-0.075|-0.075	0.45634|0.45634	D|D	0.998561|0.998561	B;B;B;B;B;B|.	0.14805|.	0.003;0.006;0.003;0.004;0.011;0.011|.	B;B;B;B;B;B|.	0.22880|.	0.042;0.019;0.042;0.01;0.042;0.042|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.02654|.	T|.	1|.	.|.	7.4511|7.4511	0.27240|0.27240	0.838:0.0:0.162:0.0|0.838:0.0:0.162:0.0	.|.	637;734;734;734;734;627|.	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.;.|.	V|S	734;734;627;114;734;637;734|506	ENSP00000396493:I734V;ENSP00000282992:I734V;ENSP00000314638:I627V;ENSP00000369113:I114V;ENSP00000306100:I734V;ENSP00000274392:I637V;ENSP00000403461:I734V|.	ENSP00000274392:I637V|.	I|N	+|+	1|2	0|0	PAM|PAM	102371245|102371245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.422000|3.422000	0.52749|0.52749	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.333	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		47	168	0	0	0	1	0	47	168				
GRB7	2886	broad.mit.edu	37	17	37901227	37901227	+	Missense_Mutation	SNP	G	G	A	rs147188188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37901227G>A	ENST00000309156.4	+	9	1258	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H|GRB7_ENST00000394204.1_Missense_Mutation_p.R334H|GRB7_ENST00000445327.2_Missense_Mutation_p.R357H|GRB7_ENST00000309185.3_Missense_Mutation_p.R334H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	334	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGCCTTCCGCCTCTTCAAG	0.617																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1000-1002)cGc>cAc		growth factor receptor-bound protein 7		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	28.0	31.0	30.0		1001,1070,1001,1001	5.2	1.0	17	dbSNP_134	30	0,8600		0,0,4300	no	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	29,29,29,29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	334/533,357/556,334/533,334/533	37901227	1,13003	2202	4300	6502	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37901227G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1001G>A	17.37:g.37901227G>A	ENSP00000310771:p.Arg334His					GRB7_ENST00000445327.2_Missense_Mutation_p.R357H|GRB7_ENST00000394204.1_Missense_Mutation_p.R334H|GRB7_ENST00000309185.3_Missense_Mutation_p.R334H|GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H	p.R334H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		9	1258	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		334			PH.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1001G>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459949	0.96240	2.27E-4	0.0	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048350	0.85682	D	0.000000	D	0.89061	0.6608	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.959;0.999	D	0.90993	0.4836	10	0.87932	D	0	-32.8545	18.4577	0.90727	0.0:0.0:1.0:0.0	.	334;334	Q14451-2;Q14451	.;GRB7_HUMAN	H	334;334;334;334;357;334	ENSP00000311752:R334H;ENSP00000310771:R334H;ENSP00000377761:R334H;ENSP00000377759:R334H;ENSP00000403459:R357H;ENSP00000377754:R334H	ENSP00000310771:R334H	R	+	2	0	GRB7	35154753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.498000	0.97972	2.681000	0.91329	0.561000	0.74099	CGC		0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		32	133	0	0	0	1	0	32	133				
ABCA7	10347	broad.mit.edu	37	19	1043455	1043455	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043455C>T	ENST00000263094.6	+	9	1144	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	305					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTTACCCGGAAGCTCAT	0.652																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(913-915)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 7							72.0	82.0	79.0					19																	1043455		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043455C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.913C>T	19.37:g.1043455C>T	ENSP00000263094:p.Arg305Trp					ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W	p.R305W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1144	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	305					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.913C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394187	0.42410	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86164	-2.08;-2.08	4.18	-1.11	0.09840	.	.	.	.	.	D	0.91016	0.7174	M	0.75777	2.31	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.81551	-0.0881	9	0.87932	D	0	.	6.6097	0.22745	0.4667:0.4442:0.0:0.0892	.	167;305	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	W	305	ENSP00000263094:R305W;ENSP00000414062:R305W	ENSP00000263094:R305W	R	+	1	2	ABCA7	994455	0.000000	0.05858	0.274000	0.24659	0.527000	0.34593	-0.337000	0.07852	-0.442000	0.07190	-0.671000	0.03813	CGG		0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		34	823	0	0	0	1	0	34	823				
LIFR	3977	broad.mit.edu	37	5	38484883	38484883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38484883C>T	ENST00000263409.4	-	18	2747	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	862					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCATTCTCGTTTCCGATA	0.363			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2584-2586)cGa>cAa		leukemia inhibitory factor receptor alpha							70.0	66.0	67.0					5																	38484883		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38484883C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2585G>A	5.37:g.38484883C>T	ENSP00000263409:p.Arg862Gln					LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			18	2747	-	all_lung(31;0.00021)		862					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2585G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384345	0.82792	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58797	0.31;0.31	5.78	4.91	0.64330	.	0.110075	0.64402	D	0.000012	T	0.74390	0.3710	M	0.69823	2.125	0.42200	D	0.991767	D	0.89917	1.0	D	0.80764	0.994	T	0.75196	-0.3403	10	0.38643	T	0.18	-13.1154	16.2544	0.82505	0.1338:0.8662:0.0:0.0	.	862	P42702	LIFR_HUMAN	Q	862	ENSP00000263409:R862Q;ENSP00000398368:R862Q	ENSP00000263409:R862Q	R	-	2	0	LIFR	38520640	1.000000	0.71417	0.995000	0.50966	0.791000	0.44710	5.359000	0.66074	1.428000	0.47296	0.563000	0.77884	CGA		0.363	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		18	105	0	0	0	1	0	18	105				
CD2AP	23607	broad.mit.edu	37	6	47471177	47471177	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47471177G>A	ENST00000359314.5	+	2	621		c.e2+1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCGTTAAGGTAAGTATTTT	0.318																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.e2+1		CD2-associated protein							92.0	93.0	93.0					6																	47471177		2203	4300	6503	SO:0001630	splice_region_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47471177G>A	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.165+1G>A	6.37:g.47471177G>A								NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		2	621	+								A6NL34|Q5VYA3|Q9UG97	Splice_Site	SNP	ENST00000359314.5	37		CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389631	0.82902	.	.	ENSG00000198087	ENST00000359314	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9996	0.89195	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD2AP	47579136	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.452000	0.90346	2.245000	0.73994	0.591000	0.81541	.		0.318	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		Intron	10	284	0	0	0	1	0	10	284				
FAM63B	54629	broad.mit.edu	37	15	59064120	59064120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59064120C>A	ENST00000559228.1	+	1	608	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	176										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTGGACTCTCTGGAGTCGTT	0.647																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(526-528)Ctg>Atg		family with sequence similarity 63, member B							23.0	25.0	24.0					15																	59064120		1868	4095	5963	SO:0001583	missense	54629							g.chr15:59064120C>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.526C>A	15.37:g.59064120C>A	ENSP00000452885:p.Leu176Met					FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M	p.L176M			Q8NBR6	FA63B_HUMAN			1	608	+			176					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.526C>A	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513697	0.85389	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.60040	0.22	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.62048	0.2396	N	0.24115	0.695	0.48901	D	0.999725	D;D	0.76494	0.999;0.999	D;D	0.72075	0.946;0.976	T	0.62803	-0.6777	10	0.34782	T	0.22	-22.5119	15.8313	0.78752	0.0:1.0:0.0:0.0	.	176;176	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	M	176	ENSP00000393231:L176M	ENSP00000326194:L176M	L	+	1	2	FAM63B	56851412	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	2.083000	0.41615	1.938000	0.56188	0.543000	0.68304	CTG		0.647	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		37	205	1	0	1.36161e-19	1	1.52027e-19	37	205				
ZNF177	7730	broad.mit.edu	37	19	9492029	9492029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9492029A>G	ENST00000589262.1	+	6	1088	c.1022A>G	c.(1021-1023)gAc>gGc	p.D341G	ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Missense_Mutation_p.D181G|ZNF177_ENST00000446085.4_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	341					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AAACCCTATGACTGTAAGGAA	0.458																																						ENST00000541595.2																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						c.(541-543)gAc>gGc		zinc finger protein 177							97.0	97.0	97.0					19																	9492029		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492029A>G	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1022A>G	19.37:g.9492029A>G	ENSP00000468531:p.Asp341Gly					ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000589262.1_Missense_Mutation_p.D341G	p.D181G	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN			12	1171	+			181					B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.542A>G	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.361363	0.41801	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.18174	3.19;3.19;2.23	2.64	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	N	0.11023	0.085	0.25653	N	0.986071	B;B	0.32396	0.08;0.369	B;B	0.30251	0.085;0.113	T	0.21965	-1.0230	8	0.87932	D	0	.	3.3069	0.07003	0.5169:0.2449:0.0:0.2382	.	341;181	B4DY57;Q13360	.;ZN177_HUMAN	G	181;181;341	ENSP00000445323:D181G;ENSP00000341497:D181G;ENSP00000415070:D341G	ENSP00000341497:D181G	D	+	2	0	ZNF177	9353029	0.000000	0.05858	0.714000	0.30535	0.991000	0.79684	0.192000	0.17096	0.402000	0.25451	0.460000	0.39030	GAC		0.458	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		67	286	0	0	0	1	0	67	286				
MAST1	22983	broad.mit.edu	37	19	12958425	12958425	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12958425G>T	ENST00000251472.4	+	6	527		c.e6-1		MAST1_ENST00000591495.1_Splice_Site	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCTCCCCGCAGCCCCGGGCGC	0.617											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.e6-1		microtubule associated serine/threonine kinase 1							39.0	43.0	42.0					19																	12958425		2203	4300	6503	SO:0001630	splice_region_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12958425G>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.489-1G>T	19.37:g.12958425G>T			OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_ENST00000591495.1_Splice_Site		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			6	527	+									Splice_Site	SNP	ENST00000251472.4	37		CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329179	0.81690	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	.	.	.	4.66	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.227	0.54465	0.0:0.0:0.8282:0.1718	.	.	.	.	.	-1	.	.	.	+	.	.	MAST1	12819425	1.000000	0.71417	0.979000	0.43373	0.827000	0.46813	9.693000	0.98684	1.083000	0.41159	0.491000	0.48974	.		0.617	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	Intron	38	280	1	0	4.32679e-17	1	4.76816e-17	38	280				
BNIP2	663	broad.mit.edu	37	15	59964895	59964895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59964895G>A	ENST00000607373.1	-	6	718	c.516C>T	c.(514-516)gtC>gtT	p.V172V	BNIP2_ENST00000415213.2_Silent_p.V234V|BNIP2_ENST00000267859.3_Silent_p.V293V|AC092755.4_ENST00000441746.1_RNA	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	172	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCATGAAACAGACAGCAAACA	0.333																																					Ovarian(174;1936 1978 6671 8240 38212)	ENST00000267859.3																			0				NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(877-879)gtC>gtT		BCL2/adenovirus E1B 19kDa interacting protein 2							101.0	101.0	101.0					15																	59964895		2190	4290	6480	SO:0001819	synonymous_variant	663				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	g.chr15:59964895G>A	U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.516C>T	15.37:g.59964895G>A						BNIP2_ENST00000415213.2_Silent_p.V234V|BNIP2_ENST00000607373.1_Silent_p.V172V	p.V293V			Q12982	BNIP2_HUMAN			6	972	-			172			CRAL-TRIO.		B4DS94	Silent	SNP	ENST00000607373.1	37	c.879C>T																																																																																					0.333	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330		40	257	0	0	0	1	0	40	257				
ADAMTS7	11173	broad.mit.edu	37	15	79059868	79059868	+	Silent	SNP	G	G	A	rs368801533		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059868G>A	ENST00000388820.4	-	18	2922	c.2712C>T	c.(2710-2712)gcC>gcT	p.A904A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	904	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCAGAGCACGGCCCGGCGGG	0.697																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2710-2712)gcC>gcT		ADAM metallopeptidase with thrombospondin type 1 motif, 7		A		1,4333		0,1,2166	12.0	15.0	14.0		2712	-9.2	0.0	15		14	0,8544		0,0,4272	no	coding-synonymous	ADAMTS7	NM_014272.3		0,1,6438	AA,AG,GG		0.0,0.0231,0.0078		904/1687	79059868	1,12877	2167	4272	6439	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059868G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2712C>T	15.37:g.79059868G>A						ADAMTS7_ENST00000566303.1_Intron	p.A904A	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			18	2922	-			904			TSP type-1 3.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.2712C>T	CCDS32303.1																																																																																				0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		18	65	0	0	0	1	0	18	65				
AGPAT6	137964	broad.mit.edu	37	8	41467268	41467268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41467268C>T	ENST00000396987.3	+	4	1257	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	110					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTCCAGAGTTCGAGCTCTCTG	0.448																																						ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(328-330)ttC>ttT		1-acylglycerol-3-phosphate O-acyltransferase 6							108.0	101.0	103.0					8																	41467268		2203	4300	6503	SO:0001819	synonymous_variant	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41467268C>T	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.330C>T	8.37:g.41467268C>T						RP11-360L9.8_ENST00000581909.1_RNA	p.F110F	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		4	1257	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	110					Q86V89	Silent	SNP	ENST00000396987.3	37	c.330C>T	CCDS6117.1																																																																																				0.448	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		115	436	0	0	0	1	0	115	436				
UBE2D1	7321	broad.mit.edu	37	10	60121147	60121147	+	Missense_Mutation	SNP	C	C	A	rs141191537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60121147C>A	ENST00000373910.4	+	2	301	c.74C>A	c.(73-75)cCt>cAt	p.P25H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCAGCTGGACCTGTGGGAGAT	0.383																																						ENST00000373910.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						c.(73-75)cCt>cAt		ubiquitin-conjugating enzyme E2D 1							157.0	147.0	150.0					10																	60121147		2203	4300	6503	SO:0001583	missense	7321				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr10:60121147C>A	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.74C>A	10.37:g.60121147C>A	ENSP00000363019:p.Pro25His						p.P25H	NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN			2	301	+			25					A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	c.74C>A	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904294	0.92035	.	.	ENSG00000072401	ENST00000373910	T	0.60171	0.21	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88960	0.3393	10	0.87932	D	0	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	25	P51668	UB2D1_HUMAN	H	25	ENSP00000363019:P25H	ENSP00000363019:P25H	P	+	2	0	UBE2D1	59791153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.735000	0.84939	2.885000	0.99019	0.655000	0.94253	CCT		0.383	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338		74	373	1	0	3.82405e-32	1	4.51337e-32	74	373				
ABCB11	8647	broad.mit.edu	37	2	169869852	169869852	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169869852A>G	ENST00000263817.6	-	5	443	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	107	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTATTCACACATGCTTTTCCT	0.393																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(319-321)Tgt>Cgt		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						246.0	234.0	238.0					2																	169869852		1896	4136	6032	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169869852A>G	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.319T>C	2.37:g.169869852A>G	ENSP00000263817:p.Cys107Arg						p.C107R	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			5	443	-			107			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.319T>C	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398189	0.62177	.	.	ENSG00000073734	ENST00000263817	D	0.86366	-2.11	5.41	5.41	0.78517	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.089899	0.85682	D	0.000000	D	0.89581	0.6756	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.88189	0.2876	10	0.30078	T	0.28	-13.8408	15.4475	0.75243	1.0:0.0:0.0:0.0	.	107	O95342	ABCBB_HUMAN	R	107	ENSP00000263817:C107R	ENSP00000263817:C107R	C	-	1	0	ABCB11	169578098	1.000000	0.71417	0.988000	0.46212	0.790000	0.44656	8.305000	0.89960	2.043000	0.60533	0.454000	0.30748	TGT		0.393	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		270	861	0	0	0	1	0	270	861				
ZNF649	65251	broad.mit.edu	37	19	52394796	52394796	+	Missense_Mutation	SNP	C	C	A	rs373638440		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394796C>A	ENST00000354957.3	-	5	877	c.593G>T	c.(592-594)aGa>aTa	p.R198I	ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGAATTCTCTTATGCTC	0.458																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(592-594)aGa>aTa		zinc finger protein 649		C	ILE/ARG	0,4406		0,0,2203	146.0	139.0	141.0		593	-5.1	0.0	19		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF649	NM_023074.3	97	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	198/506	52394796	1,13005	2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394796C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.593G>T	19.37:g.52394796C>A	ENSP00000347043:p.Arg198Ile					ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I|CTC-429C10.2_ENST00000600329.1_RNA	p.R198I	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	877	-		all_neural(266;0.0602)	198					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.593G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	8.377	0.836738	0.16891	0.0	1.16E-4	ENSG00000198093	ENST00000354957	T	0.24908	1.83	2.79	-5.05	0.02955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	M	0.80422	2.495	0.09310	N	1	B	0.19935	0.04	B	0.14578	0.011	T	0.47573	-0.9107	9	0.72032	D	0.01	.	0.4485	0.00497	0.267:0.3071:0.1322:0.2937	.	198	Q9BS31	ZN649_HUMAN	I	198	ENSP00000347043:R198I	ENSP00000347043:R198I	R	-	2	0	ZNF649	57086608	0.000000	0.05858	0.001000	0.08648	0.316000	0.28119	-0.963000	0.03837	-0.788000	0.04504	0.404000	0.27445	AGA		0.458	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		133	605	1	0	4.89831e-52	1	6.08832e-52	133	605				
TRIM14	9830	broad.mit.edu	37	9	100850171	100850171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100850171G>A	ENST00000341469.2	-	6	919	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCGTCGAACCGCAGCACGGGC	0.726																																					Colon(14;460 597 13826 51781)	ENST00000341469.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(910-912)Cgg>Tgg		tripartite motif containing 14							5.0	6.0	5.0					9																	100850171		1831	3641	5472	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100850171G>A	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.910C>T	9.37:g.100850171G>A	ENSP00000344208:p.Arg304Trp					TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000478530.1_5'UTR	p.R304W	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN			6	919	-		Acute lymphoblastic leukemia(62;0.0559)	304			B30.2/SPRY.		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.910C>T	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086854	0.55861	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000538344	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.56	3.57	0.40892	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.085614	0.45361	D	0.000379	T	0.79958	0.4536	H	0.95294	3.65	0.44547	D	0.997505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.987;0.987;0.994;0.987	D	0.83396	0.0020	10	0.87932	D	0	.	8.7341	0.34516	0.0:0.0:0.6043:0.3957	.	85;82;304;304	B7ZAZ9;B4E0G2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	W	304;304;304;304;85	ENSP00000364239:R304W;ENSP00000344208:R304W;ENSP00000343990:R304W;ENSP00000445355:R85W	ENSP00000344208:R304W	R	-	1	2	TRIM14	99889992	1.000000	0.71417	0.211000	0.23655	0.392000	0.30506	2.273000	0.43381	2.079000	0.62486	0.305000	0.20034	CGG		0.726	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		21	59	0	0	0	1	0	21	59				
AGL	178	broad.mit.edu	37	1	100329978	100329978	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100329978T>G	ENST00000294724.4	+	5	975	c.497T>G	c.(496-498)cTt>cGt	p.L166R	AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000370161.2_Missense_Mutation_p.L150R|AGL_ENST00000370163.3_Missense_Mutation_p.L166R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	166					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTGCAGACTCTTGGACTATCT	0.378																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(496-498)cTt>cGt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							153.0	151.0	152.0					1																	100329978		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100329978T>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.497T>G	1.37:g.100329978T>G	ENSP00000294724:p.Leu166Arg					AGL_ENST00000370163.3_Missense_Mutation_p.L166R|AGL_ENST00000370161.2_Missense_Mutation_p.L150R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R	p.L166R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	5	975	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	166					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.497T>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520963	0.85495	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.47	5.47	0.80525	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.86694	0.5994	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.84330	0.0521	10	0.17832	T	0.49	.	15.5552	0.76187	0.0:0.0:0.0:1.0	.	149;150;166	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	R	166;166;166;166;150;150;149	ENSP00000355106:L166R;ENSP00000359184:L166R;ENSP00000359182:L166R;ENSP00000294724:L166R;ENSP00000354971:L150R;ENSP00000359180:L150R;ENSP00000354635:L149R	ENSP00000294724:L166R	L	+	2	0	AGL	100102566	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.782000	0.85680	2.078000	0.62432	0.460000	0.39030	CTT		0.378	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		10	519	0	0	0	1	0	10	519				
DGKD	8527	broad.mit.edu	37	2	234299129	234299129	+	Splice_Site	SNP	G	G	A	rs200443109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234299129G>A	ENST00000264057.2	+	3	360	c.348G>A	c.(346-348)acG>acA	p.T116T	AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Splice_Site_p.T72T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	116	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACAGTTTTACGGTAAGATTCC	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20693	0.0		0.0	False		,,,				2504	0.0					ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.e3+1		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)	G	,	1,4405	2.1+/-5.4	0,1,2202	171.0	155.0	161.0		216,348	3.8	1.0	2		161	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	DGKD	NM_003648.2,NM_152879.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	72/1171,116/1215	234299129	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234299129G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.348+1G>A	2.37:g.234299129G>A						DGKD_ENST00000409813.3_Splice_Site_p.T72_splice|AC019221.4_ENST00000442524.1_RNA	p.T116_splice	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	3	360	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	116			PH.		Q14158|Q6PK55|Q8NG53	Splice_Site	SNP	ENST00000264057.2	37	c.348_splice	CCDS2504.1																																																																																				0.398	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	Silent	64	183	0	0	0	1	0	64	183				
ADAMTS3	9508	broad.mit.edu	37	4	73161482	73161482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73161482C>A	ENST00000286657.4	-	19	2648	c.2612G>T	c.(2611-2613)gGa>gTa	p.G871V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	871	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTACGGCATCCATATTTAGT	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2611-2613)gGa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							127.0	114.0	118.0					4																	73161482		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73161482C>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2612G>T	4.37:g.73161482C>A	ENSP00000286657:p.Gly871Val						p.G871V	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		19	2648	-			871			TSP type-1 2.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2612G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053048	0.75960	.	.	ENSG00000156140	ENST00000286657	T	0.59364	0.27	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.67258	0.2874	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60469	-0.7257	10	0.14656	T	0.56	.	18.6029	0.91255	0.0:1.0:0.0:0.0	.	871	O15072	ATS3_HUMAN	V	871	ENSP00000286657:G871V	ENSP00000286657:G871V	G	-	2	0	ADAMTS3	73380346	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	7.776000	0.85560	2.379000	0.81126	0.650000	0.86243	GGA		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			81	330	1	0	1.24833e-42	1	1.5209e-42	81	330				
FAM65A	79567	broad.mit.edu	37	16	67579738	67579738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67579738C>T	ENST00000379312.3	+	19	3495	c.3374C>T	c.(3373-3375)tCa>tTa	p.S1125L	FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000540839.3_Missense_Mutation_p.S1140L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1125						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGGAGCCTGTCACTGGGCCCT	0.662																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(3418-3420)tCa>tTa		family with sequence similarity 65, member A							49.0	56.0	54.0					16																	67579738		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67579738C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3374C>T	16.37:g.67579738C>T	ENSP00000368614:p.Ser1125Leu					FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000379312.3_Missense_Mutation_p.S1125L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L|FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L	p.S1140L			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	20	3639	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1125					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.3419C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507564	0.85282	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.78003	-1.14;-1.14;-1.14	5.58	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.518270	0.19794	N	0.105918	D	0.83464	0.5260	L	0.42245	1.32	0.33306	D	0.565508	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.68039	0.955;0.955;0.955	D	0.88327	0.2966	10	0.87932	D	0	-5.5324	15.6803	0.77364	0.138:0.862:0.0:0.0	.	1135;1141;1125	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	L	1125;1121;1141;1135	ENSP00000368614:S1125L;ENSP00000042381:S1121L;ENSP00000400099:S1141L	ENSP00000042381:S1121L	S	+	2	0	FAM65A	66137239	0.913000	0.31002	1.000000	0.80357	0.940000	0.58332	2.813000	0.48002	1.319000	0.45190	0.655000	0.94253	TCA		0.662	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		37	358	0	0	0	1	0	37	358				
TUBA8	51807	broad.mit.edu	37	22	18609176	18609176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609176G>A	ENST00000330423.3	+	4	504	c.431G>A	c.(430-432)gGc>gAc	p.G144D	TUBA8_ENST00000316027.6_Missense_Mutation_p.G78D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	144					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTGGTGGGGGCACTGGCTCC	0.537																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(430-432)gGc>gAc		tubulin, alpha 8							95.0	99.0	97.0					22																	18609176		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609176G>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.431G>A	22.37:g.18609176G>A	ENSP00000333326:p.Gly144Asp					TUBA8_ENST00000316027.6_Missense_Mutation_p.G78D	p.G144D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			4	504	+			144					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.431G>A	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	17.98	3.520016	0.64634	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.89485	-2.52;-2.52;-2.52	5.49	5.49	0.81192	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.99983	5.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99466	1.0944	10	0.87932	D	0	.	18.7174	0.91680	0.0:0.0:1.0:0.0	.	168;144	C9J2C0;Q9NY65	.;TBA8_HUMAN	D	78;144;168	ENSP00000318575:G78D;ENSP00000333326:G144D;ENSP00000412646:G168D	ENSP00000318575:G78D	G	+	2	0	TUBA8	16989176	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GGC		0.537	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		25	695	0	0	0	1	0	25	695				
NTNG2	84628	broad.mit.edu	37	9	135073905	135073905	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073905C>T	ENST00000393229.3	+	3	1542	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	NTNG2_ENST00000393228.4_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L|NTNG2_ENST00000372179.3_Silent_p.L256L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	256	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCGCATGCGGCTGCTGCGCCC	0.642																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(766-768)Ctg>Ttg		netrin G2							41.0	47.0	45.0					9																	135073905		2201	4294	6495	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073905C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.766C>T	9.37:g.135073905C>T						NTNG2_ENST00000393228.4_Silent_p.L256L|NTNG2_ENST00000372179.3_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L	p.L256L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1542	+			256			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.766C>T	CCDS6946.1																																																																																				0.642	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		21	555	0	0	0	1	0	21	555				
VNN3	55350	broad.mit.edu	37	6	133047932	133047932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133047932G>A	ENST00000367927.5	-	4	829	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	VNN3_ENST00000509351.1_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000580813.1_5'Flank|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000207771.3_Missense_Mutation_p.S252L|VNN3_ENST00000450865.2_Silent_p.F131F|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000427187.2_Intron			Q9NY84	VNN3_HUMAN	vanin 3	0	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GGCCCATGCTGAATGGAAGGG	0.557																																						ENST00000367927.5																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(757-759)Cag>Tag		vanin 3							203.0	154.0	170.0					6																	133047932		2203	4300	6503	SO:0001587	stop_gained	55350							g.chr6:133047932G>A	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000367927.5:c.757C>T	6.37:g.133047932G>A	ENSP00000438024:p.Gln253*					VNN3_ENST00000509351.1_Intron|VNN3_ENST00000207771.3_Missense_Mutation_p.S252L|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000450865.2_Silent_p.F131F|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000519686.2_3'UTR	p.Q253*						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	4	829	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Nonsense_Mutation	SNP	ENST00000367927.5	37	c.757C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.903232|2.903232	0.52333|0.52333	.|.	.|.	ENSG00000093134|ENSG00000093134	ENST00000367927|ENST00000207771	.|D	.|0.85171	.|-1.95	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.64402	.|D	.|0.000016	.|D	.|0.88291	.|0.6397	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.85918	.|0.1444	.|7	0.66056|0.35671	D|T	0.02|0.21	-21.5543|-21.5543	19.5961|19.5961	0.95538|0.95538	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	253|252	.|ENSP00000440594:S252L	ENSP00000438024:Q253X|ENSP00000440594:S252L	Q|S	-|-	1|2	0|0	VNN3|VNN3	133089625|133089625	0.763000|0.763000	0.28462|0.28462	0.195000|0.195000	0.23364|0.23364	0.330000|0.330000	0.28571|0.28571	2.273000|2.273000	0.43381|0.43381	2.713000|2.713000	0.92767|0.92767	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.557	VNN3-001	KNOWN	NMD_exception|basic	protein_coding	protein_coding	OTTHUMT00000042265.4	NR_028290		116	544	0	0	0	1	0	116	544				
ZNF835	90485	broad.mit.edu	37	19	57175214	57175214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175214G>A	ENST00000537055.2	-	2	1584	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCCTTGCCGCACTCGGGGC	0.672																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1351-1353)tgC>tgT		zinc finger protein 835							57.0	63.0	61.0					19																	57175214		2201	4300	6501	SO:0001819	synonymous_variant	90485							g.chr19:57175214G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1353C>T	19.37:g.57175214G>A							p.C451C	NM_001005850.2	NP_001005850.2					2	1584	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1353C>T	CCDS56105.1																																																																																				0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		128	502	0	0	0	1	0	128	502				
PAQR7	164091	broad.mit.edu	37	1	26189357	26189357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26189357C>T	ENST00000374296.3	-	2	1640	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	325					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGATGCTGCTGCCCACCGT	0.577																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(973-975)aGc>aAc		progestin and adipoQ receptor family member VII							81.0	82.0	82.0					1																	26189357		2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189357C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.974G>A	1.37:g.26189357C>T	ENSP00000363414:p.Ser325Asn					RP1-125I3.2_ENST00000455431.1_RNA	p.S325N	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1640	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	325					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.974G>A	CCDS267.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155044	0.38021	.	.	ENSG00000182749	ENST00000374296	T	0.22743	1.94	4.81	4.81	0.61882	.	0.057108	0.64402	D	0.000001	T	0.15003	0.0362	N	0.22421	0.69	0.45378	D	0.998368	P	0.44521	0.837	B	0.38106	0.265	T	0.04400	-1.0954	10	0.33141	T	0.24	-17.3312	15.8292	0.78739	0.0:1.0:0.0:0.0	.	325	Q86WK9	MPRA_HUMAN	N	325	ENSP00000363414:S325N	ENSP00000363414:S325N	S	-	2	0	PAQR7	26061944	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.976000	0.76135	2.479000	0.83701	0.563000	0.77884	AGC		0.577	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		79	318	0	0	0	1	0	79	318				
CNTNAP4	85445	broad.mit.edu	37	16	76592577	76592577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76592577C>T	ENST00000476707.1	+	23	4072	c.3933C>T	c.(3931-3933)ttC>ttT	p.F1311F	CNTNAP4_ENST00000469589.1_3'UTR|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000478060.1_Silent_p.F1235F|CNTNAP4_ENST00000377504.4_Silent_p.F1259F|CNTNAP4_ENST00000307431.8_Silent_p.F1307F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1308					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTACTTCTTCTGATTGGCAG	0.363																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3919-3921)ttC>ttT		contactin associated protein-like 4							46.0	44.0	44.0					16																	76592577		1851	4102	5953	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76592577C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3933C>T	16.37:g.76592577C>T						CNTNAP4_ENST00000478060.1_Silent_p.F1235F|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000476707.1_Silent_p.F1311F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.F1259F	p.F1307F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			25	4306	+			1308					E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.3921C>T																																																																																					0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		27	122	0	0	0	1	0	27	122				
ANAPC4	29945	broad.mit.edu	37	4	25418162	25418162	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418162T>G	ENST00000315368.3	+	27	2159	c.2017T>G	c.(2017-2019)Tta>Gta	p.L673V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L674V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	673					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GCCTTTGTCTTTAGTATATAA	0.358																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(2017-2019)Tta>Gta		anaphase promoting complex subunit 4							111.0	106.0	108.0					4																	25418162		2203	4300	6503	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25418162T>G	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2017T>G	4.37:g.25418162T>G	ENSP00000318775:p.Leu673Val					ANAPC4_ENST00000510092.1_Missense_Mutation_p.L674V	p.L673V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			27	2159	+		Breast(46;0.0503)	673					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.2017T>G	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	T	8.177	0.792979	0.16327	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.30714	1.52;1.52	5.68	4.4	0.53042	.	0.582512	0.18955	N	0.126564	T	0.16342	0.0393	N	0.19112	0.55	0.24966	N	0.991691	B	0.29716	0.255	B	0.21360	0.034	T	0.19647	-1.0299	10	0.12766	T	0.61	1.9083	9.7585	0.40517	0.0:0.0994:0.0:0.9006	.	673	Q9UJX5	APC4_HUMAN	V	673;674	ENSP00000318775:L673V;ENSP00000426654:L674V	ENSP00000318775:L673V	L	+	1	2	ANAPC4	25027260	0.824000	0.29247	0.509000	0.27700	0.972000	0.66771	1.617000	0.36943	0.852000	0.35287	0.445000	0.29226	TTA		0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		6	324	0	0	0	1	0	6	324				
GRIN2A	2903	broad.mit.edu	37	16	9857650	9857650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857650C>T	ENST00000396573.2	-	14	4060	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1251			D -> N (in FESD). {ECO:0000269|PubMed:23933820}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCATCTGGTCTTCATCGATG	0.542																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3751-3753)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						119.0	110.0	113.0					16																	9857650		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857650C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3751G>A	16.37:g.9857650C>T	ENSP00000379818:p.Asp1251Asn					GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N	p.D1251N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4060	-			1251					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3751G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302940	0.81136	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.50813	0.73;1.76;1.83;0.73;0.73	5.11	5.11	0.69529	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.995	T	0.75102	-0.3436	9	.	.	.	.	17.5377	0.87837	0.0:1.0:0.0:0.0	.	1094;1251;1251	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1251;1251;1094;1251;1251	ENSP00000379818:D1251N;ENSP00000385872:D1251N;ENSP00000441572:D1094N;ENSP00000332549:D1251N;ENSP00000379820:D1251N	.	D	-	1	0	GRIN2A	9765151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.365000	0.80145	0.655000	0.94253	GAC		0.542	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			99	398	0	0	0	1	0	99	398				
RFX7	64864	broad.mit.edu	37	15	56385880	56385880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56385880G>A	ENST00000559447.2	-	9	4026	c.3755C>T	c.(3754-3756)aCt>aTt	p.T1252I	RFX7_ENST00000423270.1_Missense_Mutation_p.T1349I|RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1252					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTCTTTAACAGTGCTATTGAA	0.423																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(4045-4047)aCt>aTt		regulatory factor X, 7							98.0	93.0	94.0					15																	56385880		1907	4119	6026	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56385880G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3755C>T	15.37:g.56385880G>A	ENSP00000453281:p.Thr1252Ile					RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I|RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000559447.2_Missense_Mutation_p.T1252I	p.T1349I	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	4045	-			1252					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.4046C>T		.	.	.	.	.	.	.	.	.	.	G	17.12	3.307294	0.60305	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.63255	0.06;0.05;-0.03	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.74386	-0.3682	10	0.87932	D	0	-18.6485	19.1131	0.93326	0.0:0.0:1.0:0.0	.	1252;1252	Q2KHR2;C9JU50	RFX7_HUMAN;.	I	1252;1349;1349	ENSP00000387504:T1252I;ENSP00000313299:T1349I;ENSP00000397644:T1349I	ENSP00000313299:T1349I	T	-	2	0	RFX7	54173172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.832000	0.97577	0.655000	0.94253	ACT		0.423	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		28	166	0	0	0	1	0	28	166				
NUP160	23279	broad.mit.edu	37	11	47858498	47858498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47858498G>A	ENST00000378460.2	-	6	929	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y|NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	295					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCATCATGCTCCACACAA	0.413																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(883-885)Cat>Tat		nucleoporin 160kDa							176.0	153.0	161.0					11																	47858498		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47858498G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.883C>T	11.37:g.47858498G>A	ENSP00000367721:p.His295Tyr					NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y	p.H295Y	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			6	929	-			295					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.883C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626640	0.66901	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.42900	0.96;0.96;0.96	5.5	3.61	0.41365	.	0.240232	0.43260	D	0.000584	T	0.44993	0.1320	L	0.60455	1.87	0.80722	D	1	P	0.45240	0.854	P	0.47626	0.552	T	0.28106	-1.0054	10	0.13108	T	0.6	.	14.7893	0.69827	0.0:0.0:0.7366:0.2633	.	295	Q12769	NU160_HUMAN	Y	295;45;181;181	ENSP00000367721:H295Y;ENSP00000433590:H181Y;ENSP00000432367:H181Y	ENSP00000367721:H295Y	H	-	1	0	NUP160	47815074	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	4.345000	0.59360	0.667000	0.31107	0.655000	0.94253	CAT		0.413	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		57	234	0	0	0	1	0	57	234				
AHNAK2	113146	broad.mit.edu	37	14	105414796	105414796	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105414796G>T	ENST00000333244.5	-	7	7111	c.6992C>A	c.(6991-6993)tCt>tAt	p.S2331Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2331						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCAAGGGCAGACACCCCAAA	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6991-6993)tCt>tAt		AHNAK nucleoprotein 2							191.0	213.0	206.0					14																	105414796		2056	4200	6256	SO:0001583	missense	113146					nucleus		g.chr14:105414796G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6992C>A	14.37:g.105414796G>T	ENSP00000353114:p.Ser2331Tyr					AHNAK2_ENST00000557457.1_Intron	p.S2331Y	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7111	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2331					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6992C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	16.73	3.203847	0.58234	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	3.64	3.64	0.41730	.	.	.	.	.	T	0.07098	0.0180	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04946	-1.0916	9	0.66056	D	0.02	.	10.8683	0.46869	0.0:0.0:1.0:0.0	.	2331	Q8IVF2	AHNK2_HUMAN	Y	2331	ENSP00000353114:S2331Y	ENSP00000353114:S2331Y	S	-	2	0	AHNAK2	104485841	0.860000	0.29831	0.006000	0.13384	0.006000	0.05464	4.252000	0.58785	1.559000	0.49555	0.306000	0.20318	TCT		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		225	1383	1	0	4.61621e-74	1	5.87989e-74	225	1383				
RAB36	9609	broad.mit.edu	37	22	23488872	23488872	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23488872G>T	ENST00000263116.2	+	2	307	c.267G>T	c.(265-267)aaG>aaT	p.K89N	RTDR1_ENST00000406876.1_5'Flank|RAB36_ENST00000341989.4_Splice_Site_p.K89N	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	89					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTTCCCTAAGGTAGAGAGTC	0.572																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e2+1		RAB36, member RAS oncogene family							71.0	61.0	64.0					22																	23488872		2203	4300	6503	SO:0001630	splice_region_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23488872G>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.267+1G>T	22.37:g.23488872G>T						RAB36_ENST00000341989.4_Splice_Site_p.K89_splice	p.K89_splice	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	2	307	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		89					Q2M390|Q7Z4A9|Q9UHP5	Splice_Site	SNP	ENST00000263116.2	37	c.267_splice	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142038	0.77775	.	.	ENSG00000100228	ENST00000263116;ENST00000341989;ENST00000418881	T;T	0.64803	-0.12;0.26	5.2	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	L	0.55990	1.75	0.80722	D	1	D;P	0.63046	0.992;0.93	P;P	0.59948	0.866;0.552	T	0.71076	-0.4697	10	0.72032	D	0.01	-49.6785	10.3228	0.43775	0.0963:0.0:0.9037:0.0	.	89;89	O95755-2;O95755	.;RAB36_HUMAN	N	89;89;50	ENSP00000263116:K89N;ENSP00000343494:K89N	ENSP00000263116:K89N	K	+	3	2	RAB36	21818872	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.759000	0.62227	2.602000	0.87976	0.650000	0.86243	AAG		0.572	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914	Missense_Mutation	7	238	1	0	0.27861	1	0.278732	7	238				
KCNH4	23415	broad.mit.edu	37	17	40312104	40312104	+	Missense_Mutation	SNP	C	C	A	rs567252082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40312104C>A	ENST00000264661.3	-	16	3340	c.3008G>T	c.(3007-3009)aGc>aTc	p.S1003I	KCNH4_ENST00000607371.1_Missense_Mutation_p.S1003I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	1003					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCAAGAGGCTTGGGGTTGG	0.652																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(3007-3009)aGc>aTc		potassium voltage-gated channel, subfamily H (eag-related), member 4							34.0	35.0	35.0					17																	40312104		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40312104C>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.3008G>T	17.37:g.40312104C>A	ENSP00000264661:p.Ser1003Ile					KCNH4_ENST00000607371.1_Missense_Mutation_p.S1003I	p.S1003I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	16	3340	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	1003						Missense_Mutation	SNP	ENST00000264661.3	37	c.3008G>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905727	0.17760	.	.	ENSG00000089558	ENST00000264661	D	0.98835	-5.17	5.02	3.02	0.34903	.	0.136685	0.33631	N	0.004718	D	0.93854	0.8034	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.23018	0.043	D	0.89055	0.3458	10	0.66056	D	0.02	.	6.6623	0.23020	0.0:0.7241:0.1803:0.0956	.	1003	Q9UQ05	KCNH4_HUMAN	I	1003	ENSP00000264661:S1003I	ENSP00000264661:S1003I	S	-	2	0	KCNH4	37565630	0.680000	0.27605	0.722000	0.30670	0.386000	0.30323	0.986000	0.29590	0.691000	0.31592	-0.305000	0.09177	AGC		0.652	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		8	238	1	0	5.18039e-06	1	5.32547e-06	8	238				
D2HGDH	728294	broad.mit.edu	37	2	242681954	242681954	+	Missense_Mutation	SNP	G	G	A	rs374397125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242681954G>A	ENST00000321264.4	+	4	664	c.455G>A	c.(454-456)cGc>cAc	p.R152H	D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	152	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCCACTGCCCGCATGAACCGG	0.642																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(454-456)cGc>cAc		D-2-hydroxyglutarate dehydrogenase		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	81.0	88.0		455	3.9	1.0	2		88	0,8592		0,0,4296	no	missense	D2HGDH	NM_152783.3	29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	152/522	242681954	1,12997	2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242681954G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.455G>A	2.37:g.242681954G>A	ENSP00000315351:p.Arg152His					D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H	p.R152H	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	4	664	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	152			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.455G>A	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196304	0.38806	2.27E-4	0.0	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.01	5.06	3.89	0.44902	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.069723	0.64402	D	0.000014	D	0.94515	0.8234	M	0.75264	2.295	0.35735	D	0.818244	P	0.36144	0.539	B	0.32762	0.152	D	0.93942	0.7224	10	0.37606	T	0.19	.	12.0727	0.53626	0.0:0.0:0.1466:0.8534	.	152	Q8N465	D2HDH_HUMAN	H	152;152;18;152;36;22	ENSP00000442796:R152H;ENSP00000315351:R152H;ENSP00000384723:R18H;ENSP00000339536:R152H;ENSP00000412511:R36H;ENSP00000404596:R22H	ENSP00000315351:R152H	R	+	2	0	D2HGDH	242330627	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	4.589000	0.61006	0.776000	0.33473	-0.425000	0.05940	CGC		0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		51	256	0	0	0	1	0	51	256				
HS3ST2	9956	broad.mit.edu	37	16	22926592	22926592	+	Silent	SNP	C	C	T	rs144169281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926592C>T	ENST00000261374.3	+	2	1247	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	271					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(811-813)ttC>ttT		heparan sulfate (glucosamine) 3-O-sulfotransferase 2		C		0,4394		0,0,2197	105.0	99.0	101.0		813	1.7	1.0	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HS3ST2	NM_006043.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		271/368	22926592	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926592C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.813C>T	16.37:g.22926592C>T							p.F271F	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1247	+			271					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.813C>T	CCDS10606.1																																																																																				0.582	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		208	730	0	0	0	1	0	208	730				
MYO15A	51168	broad.mit.edu	37	17	18030104	18030104	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18030104G>T	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCTCCCCAGGCACCTCTTT	0.552																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.e6-1		myosin XVA							113.0	117.0	116.0					17																	18030104		2003	4164	6167	SO:0001630	splice_region_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18030104G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3867-1G>T	17.37:g.18030104G>T								NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			6	4204	+	all_neural(463;0.228)							B4DFC7	Splice_Site	SNP	ENST00000205890.5	37		CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459850	0.84317	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3189	0.90231	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO15A	17970829	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	9.807000	0.99171	2.321000	0.78463	0.655000	0.94253	.		0.552	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	Intron	30	756	1	0	1.61788e-16	1	1.7777e-16	30	756				
ALMS1	7840	broad.mit.edu	37	2	73675536	73675536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73675536C>T	ENST00000264448.6	+	8	1990	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S|ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	627	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGAGAGAAGCCTGGTACTTT	0.473																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(1879-1881)Cct>Tct		Alstrom syndrome 1							112.0	113.0	112.0					2																	73675536		1864	4092	5956	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675536C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1879C>T	2.37:g.73675536C>T	ENSP00000264448:p.Pro627Ser					ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S	p.P627S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	1990	+			627			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.1879C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497604	0.04291	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17691	3.14;3.13;2.26	4.08	0.202	0.15190	.	1.540760	0.03657	N	0.242053	T	0.12433	0.0302	L	0.38175	1.15	0.09310	N	1	P;P;B	0.35401	0.499;0.499;0.307	B;B;B	0.26416	0.069;0.069;0.069	T	0.26052	-1.0114	10	0.34782	T	0.22	.	6.1427	0.20269	0.0:0.5246:0.0:0.4754	.	627;585;627	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	585;627;627	ENSP00000386627:P585S;ENSP00000264448:P627S;ENSP00000366944:P627S	ENSP00000264448:P627S	P	+	1	0	ALMS1	73529044	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.079000	0.03410	0.016000	0.14998	0.655000	0.94253	CCT		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		188	661	0	0	0	1	0	188	661				
KBTBD2	25948	broad.mit.edu	37	7	32910180	32910180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32910180G>A	ENST00000304056.4	-	4	1348	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	217										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTTGGCTAAGAACAGAAGAC	0.413																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(649-651)Ctt>Ttt		kelch repeat and BTB (POZ) domain containing 2							107.0	104.0	105.0					7																	32910180		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32910180G>A	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.649C>T	7.37:g.32910180G>A	ENSP00000302586:p.Leu217Phe					AVL9_ENST00000404479.1_Intron	p.L217F	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1348	-			217					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.649C>T	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485055	0.26598	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.77489	-1.1	5.72	5.72	0.89469	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82967	-0.0194	10	0.36615	T	0.2	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	217	Q8IY47	KBTB2_HUMAN	F	217;24	ENSP00000302586:L217F	ENSP00000302586:L217F	L	-	1	0	KBTBD2	32876705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	CTT		0.413	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		29	336	0	0	0	1	0	29	336				
NCOA4	8031	broad.mit.edu	37	10	51584652	51584652	+	Missense_Mutation	SNP	G	G	A	rs373872053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51584652G>A	ENST00000443446.1	+	8	980	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000452682.1_Missense_Mutation_p.G267R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R|NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	251					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.G267W(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAATAATGTCGGGGGAAACCT	0.388			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.G267W(1)	lung(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(799-801)Ggg>Agg		nuclear receptor coactivator 4							56.0	60.0	59.0					10																	51584652		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584652G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.751G>A	10.37:g.51584652G>A	ENSP00000390713:p.Gly251Arg					NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000443446.1_Missense_Mutation_p.G251R|NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000498586.1_3'UTR	p.G267R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1051	+			251					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.799G>A	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.62|14.62	2.591007|2.591007	0.46214|0.46214	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	6.03|6.03	4.9|4.9	0.64082|0.64082	.|.	0.054224|.	0.85682|.	D|.	0.000000|.	T|T	0.26882|0.26882	0.0658|0.0658	N|N	0.08118|0.08118	0|0	0.28431|0.28431	N|N	0.917286|0.917286	B;B;B;P|.	0.40083|.	0.233;0.107;0.107;0.702|.	B;B;B;B|.	0.31245|.	0.007;0.007;0.007;0.126|.	T|T	0.17198|0.17198	-1.0377|-1.0377	10|5	0.59425|.	D|.	0.04|.	-29.3647|-29.3647	13.562|13.562	0.61795|0.61795	0.0:0.0:0.1311:0.8689|0.0:0.0:0.1311:0.8689	.|.	151;267;267;251|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	R|Q	267;267;151;251;85;251;251;251|166	ENSP00000405146:G267R;ENSP00000395465:G267R;ENSP00000393053:G151R;ENSP00000363200:G251R;ENSP00000411018:G85R;ENSP00000344552:G251R;ENSP00000363195:G251R;ENSP00000390713:G251R|.	ENSP00000344552:G251R|.	G|R	+|+	1|2	0|0	NCOA4|NCOA4	51254658|51254658	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.704000|0.704000	0.40688|0.40688	5.510000|5.510000	0.67018|0.67018	1.104000|1.104000	0.41587|0.41587	-0.256000|-0.256000	0.11100|0.11100	GGG|CGG		0.388	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		102	400	0	0	0	1	0	102	400				
ABCA8	10351	broad.mit.edu	37	17	66914273	66914273	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66914273T>C	ENST00000269080.2	-	14	1979	c.1842A>G	c.(1840-1842)caA>caG	p.Q614Q	ABCA8_ENST00000586539.1_Silent_p.Q654Q|ABCA8_ENST00000430352.2_Silent_p.Q654Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	614	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTTCCATACTTGGTGTCTTG	0.458																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1840-1842)caA>caG		ATP-binding cassette, sub-family A (ABC1), member 8							181.0	145.0	157.0					17																	66914273		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66914273T>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1842A>G	17.37:g.66914273T>C						ABCA8_ENST00000430352.2_Silent_p.Q654Q|ABCA8_ENST00000586539.1_Silent_p.Q654Q	p.Q614Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			14	1979	-	Breast(10;4.56e-13)		614			ABC transporter 1.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.1842A>G	CCDS11680.1																																																																																				0.458	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		64	290	0	0	0	1	0	64	290				
CHST10	9486	broad.mit.edu	37	2	101010006	101010006	+	Missense_Mutation	SNP	C	C	T	rs3748932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101010006C>T	ENST00000264249.3	-	7	1157	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CHST10_ENST00000542617.1_Missense_Mutation_p.D306N|CHST10_ENST00000409701.1_Missense_Mutation_p.D258N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	258			D -> N (in dbSNP:rs3748932).		carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ATGATGTGGTCCCCAAACTGA	0.547																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(772-774)Gac>Aac		carbohydrate sulfotransferase 10							254.0	228.0	237.0					2																	101010006		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010006C>T	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.772G>A	2.37:g.101010006C>T	ENSP00000264249:p.Asp258Asn					CHST10_ENST00000542617.1_Missense_Mutation_p.D306N|CHST10_ENST00000409701.1_Missense_Mutation_p.D258N	p.D258N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1157	-			258		D -> N (in dbSNP:rs3748932).			Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.772G>A	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	36	5.781912	0.96929	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	6.06	0.98353	.	0.084712	0.85682	D	0.000000	T	0.70859	0.3272	L	0.37750	1.13	0.80722	D	1	P	0.43231	0.801	B	0.43225	0.412	T	0.65668	-0.6112	10	0.23302	T	0.38	-38.744	20.6208	0.99490	0.0:1.0:0.0:0.0	rs3748932;rs3748932	258	O43529	CHSTA_HUMAN	N	258;306;258	ENSP00000264249:D258N;ENSP00000438869:D306N;ENSP00000387309:D258N	ENSP00000264249:D258N	D	-	1	0	CHST10	100376438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAC		0.547	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		153	812	0	0	0	1	0	153	812				
TIE1	7075	broad.mit.edu	37	1	43777353	43777353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43777353C>T	ENST00000372476.3	+	10	1424	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	449	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCCCGTGCCCCTGGCTGC	0.627																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1345-1347)Ccc>Tcc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							54.0	59.0	57.0					1																	43777353		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777353C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1345C>T	1.37:g.43777353C>T	ENSP00000361554:p.Pro449Ser					TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	p.P449S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			10	1424	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	449			Fibronectin type-III 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1345C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144981	0.77888	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.79749	-1.3;0.89	5.03	4.11	0.48088	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.217057	0.23356	N	0.049067	D	0.90304	0.6967	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.957;0.987;1.0;0.981	D;P;P;D;P	0.91635	0.998;0.75;0.763;0.999;0.873	D	0.91676	0.5354	10	0.72032	D	0.01	.	15.4145	0.74956	0.0:0.8602:0.1398:0.0	.	94;404;449;94;449	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	449;94	ENSP00000361554:P449S;ENSP00000411728:P94S	ENSP00000361554:P449S	P	+	1	0	TIE1	43549940	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.538000	0.53597	1.101000	0.41535	0.563000	0.77884	CCC		0.627	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		52	485	0	0	0	1	0	52	485				
TINAG	27283	broad.mit.edu	37	6	54219400	54219400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54219400C>T	ENST00000259782.4	+	9	1312	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	406					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAAAATATCGAAAGCTTCA	0.318																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1216-1218)Cga>Tga		tubulointerstitial nephritis antigen							70.0	69.0	69.0					6																	54219400		2202	4298	6500	SO:0001587	stop_gained	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54219400C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1216C>T	6.37:g.54219400C>T	ENSP00000259782:p.Arg406*						p.R406*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		9	1312	+	Lung NSC(77;0.0518)		406					Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	c.1216C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	38	7.097332	0.98063	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.54	2.25	0.28309	.	0.986368	0.08253	N	0.974253	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8905	0.58069	0.4987:0.5013:0.0:0.0	.	.	.	.	X	265;406;85	.	ENSP00000259782:R406X	R	+	1	2	TINAG	54327359	0.865000	0.29922	0.033000	0.17914	0.653000	0.38743	1.940000	0.40223	0.616000	0.30141	0.655000	0.94253	CGA		0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		61	237	0	0	0	1	0	61	237				
HR	55806	broad.mit.edu	37	8	21985060	21985060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21985060C>T	ENST00000381418.4	-	3	2375	c.895G>A	c.(895-897)Gat>Aat	p.D299N	HR_ENST00000312841.8_Missense_Mutation_p.D299N|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	299					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTTCCCATCGCCTGGCCCA	0.657																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(895-897)Gat>Aat		hair growth associated							31.0	32.0	32.0					8																	21985060		2203	4298	6501	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21985060C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.895G>A	8.37:g.21985060C>T	ENSP00000370826:p.Asp299Asn					HR_ENST00000312841.8_Missense_Mutation_p.D299N	p.D299N	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	2375	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	299					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.895G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	1.900	-0.453240	0.04540	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70749	-0.51;-0.51	5.8	-0.854	0.10705	.	0.683555	0.14524	N	0.314266	T	0.40322	0.1112	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28038	-1.0056	10	0.08179	T	0.78	0.2563	9.1659	0.37052	0.0:0.3252:0.0:0.6748	.	299;299	O43593-2;O43593	.;HAIR_HUMAN	N	299	ENSP00000370826:D299N;ENSP00000326765:D299N	ENSP00000326765:D299N	D	-	1	0	HR	22041005	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	-0.153000	0.10144	-0.295000	0.08960	-0.672000	0.03802	GAT		0.657	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			67	282	0	0	0	1	0	67	282				
NPRL3	8131	broad.mit.edu	37	16	150396	150396	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:150396G>A	ENST00000399953.3	-	7	1143	c.741C>T	c.(739-741)gcC>gcT	p.A247A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.A68A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	247					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TCCGTTCGATGGCCTCTGGGG	0.602																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(739-741)gcC>gcT		nitrogen permease regulator-like 3 (S. cerevisiae)							37.0	43.0	41.0					16																	150396		2013	4155	6168	SO:0001819	synonymous_variant	8131						protein binding	g.chr16:150396G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.741C>T	16.37:g.150396G>A						NPRL3_ENST00000399951.3_Silent_p.A68A|NPRL3_ENST00000405960.3_5'UTR	p.A247A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			7	1143	-			247					D3DU40|Q1W6H0|Q4TT56|Q92469	Silent	SNP	ENST00000399953.3	37	c.741C>T																																																																																					0.602	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		20	64	0	0	0	1	0	20	64				
LRP1B	53353	broad.mit.edu	37	2	141215049	141215049	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141215049G>T	ENST00000389484.3	-	61	10768	c.9797C>A	c.(9796-9798)tCt>tAt	p.S3266Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3266					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTCTATAAGAATGATACAC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9796-9798)tCt>tAt		low density lipoprotein receptor-related protein 1B							162.0	148.0	153.0					2																	141215049		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141215049G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9797C>A	2.37:g.141215049G>T	ENSP00000374135:p.Ser3266Tyr	TSP Lung(27;0.18)					p.S3266Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	61	10768	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3266					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9797C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353362	0.82132	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91577	-2.87	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.080321	0.52532	U	0.000066	D	0.91798	0.7405	M	0.63428	1.95	0.49915	D	0.999831	P	0.52842	0.956	P	0.48030	0.564	D	0.92527	0.6030	10	0.66056	D	0.02	.	19.3152	0.94208	0.0:0.0:1.0:0.0	.	3266	Q9NZR2	LRP1B_HUMAN	Y	3266;3204	ENSP00000374135:S3266Y	ENSP00000374135:S3266Y	S	-	2	0	LRP1B	140931519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.550000	0.86006	0.655000	0.94253	TCT		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		144	371	1	0	6.69687e-66	1	8.47057e-66	144	371				
UQCRFS1	7386	broad.mit.edu	37	19	29698753	29698753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:29698753A>G	ENST00000304863.4	-	2	949	c.527T>C	c.(526-528)gTg>gCg	p.V176A		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	176					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCTATGACGCACAAACAGGGG	0.453																																						ENST00000304863.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(526-528)gTg>gCg		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1							114.0	119.0	117.0					19																	29698753		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698753A>G	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.527T>C	19.37:g.29698753A>G	ENSP00000306397:p.Val176Ala						p.V176A	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	Lung(7;0.092)		2	949	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		176					A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.527T>C	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601290	0.66445	.	.	ENSG00000169021	ENST00000304863	T	0.58358	0.34	5.42	5.42	0.78866	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (2);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	H	0.97440	4.005	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.88316	0.2959	10	0.87932	D	0	.	14.6407	0.68723	1.0:0.0:0.0:0.0	.	176	P47985	UCRI_HUMAN	A	176	ENSP00000306397:V176A	ENSP00000306397:V176A	V	-	2	0	UQCRFS1	34390593	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.071000	0.76770	2.053000	0.61076	0.379000	0.24179	GTG		0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		102	599	0	0	0	1	0	102	599				
RABEP1	9135	broad.mit.edu	37	17	5280417	5280417	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5280417C>T	ENST00000546142.2	+	14	2219	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	RABEP1_ENST00000262477.6_Missense_Mutation_p.R678W|RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	678					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGGCACTGCGGGAGTTGGT	0.393																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(2032-2034)Cgg>Tgg		rabaptin, RAB GTPase binding effector protein 1							139.0	134.0	135.0					17																	5280417		1868	4097	5965	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5280417C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2032C>T	17.37:g.5280417C>T	ENSP00000437701:p.Arg678Trp					RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000546142.2_Missense_Mutation_p.R678W|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W|RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W|NUP88_ENST00000573169.1_Intron	p.R678W	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			14	2256	+			678					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.2032C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848670	0.91277	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.99	4.99	0.66335	Rabaptin, GTPase-Rab5 binding (1);	0.191631	0.48767	D	0.000179	T	0.55529	0.1926	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998	P;P;P;P;P	0.57679	0.627;0.744;0.825;0.744;0.627	T	0.58719	-0.7587	10	0.87932	D	0	-12.9011	17.8295	0.88677	0.0:1.0:0.0:0.0	.	635;635;671;678;678	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	W	678;678;671;678;678;635	ENSP00000262477:R678W;ENSP00000386150:R678W;ENSP00000437701:R678W;ENSP00000339569:R678W;ENSP00000445408:R635W	ENSP00000262477:R678W	R	+	1	2	RABEP1	5221141	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.308000	0.78929	2.760000	0.94817	0.655000	0.94253	CGG		0.393	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		156	630	0	0	0	1	0	156	630				
BRINP1	1620	broad.mit.edu	37	9	122004453	122004453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:122004453C>T	ENST00000265922.3	-	4	912	c.451G>A	c.(451-453)Gac>Aac	p.D151N	BRINP1_ENST00000373964.2_Missense_Mutation_p.D151N	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	151	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GACTTCCTGTCGAGGCGACTT	0.488																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(451-453)Gac>Aac									136.0	109.0	119.0					9																	122004453		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122004453C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.451G>A	9.37:g.122004453C>T	ENSP00000265922:p.Asp151Asn					DBC1_ENST00000373964.2_Missense_Mutation_p.D151N	p.D151N	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			4	912	-			151			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.451G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445295	0.83993	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83755	-1.76;-1.76	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	N	0.08118	0	0.80722	D	1	P;P	0.46327	0.876;0.826	B;B	0.34242	0.178;0.151	T	0.72915	-0.4147	10	0.41790	T	0.15	-31.013	20.0666	0.97706	0.0:1.0:0.0:0.0	.	151;151	O60477-2;O60477	.;DBC1_HUMAN	N	151	ENSP00000265922:D151N;ENSP00000363075:D151N	ENSP00000265922:D151N	D	-	1	0	DBC1	121044274	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	4.881000	0.63114	2.826000	0.97356	0.561000	0.74099	GAC		0.488	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		22	201	0	0	0	1	0	22	201				
GBP4	115361	broad.mit.edu	37	1	89657065	89657065	+	Silent	SNP	G	G	A	rs539360281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89657065G>A	ENST00000355754.6	-	6	892	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	265	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTGGCACTTCGTCCATATGAT	0.418																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(793-795)gaC>gaT		guanylate binding protein 4							114.0	113.0	114.0					1																	89657065		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89657065G>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.795C>T	1.37:g.89657065G>A							p.D265D	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	6	892	-			265					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.795C>T	CCDS721.1																																																																																				0.418	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		69	312	0	0	0	1	0	69	312				
INPP5E	56623	broad.mit.edu	37	9	139325493	139325493	+	Silent	SNP	C	C	T	rs150464071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139325493C>T	ENST00000371712.3	-	8	2028	c.1626G>A	c.(1624-1626)acG>acA	p.T542T		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGCTGTCGTACGTGTCCTTCC	0.617																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1624-1626)acG>acA		inositol polyphosphate-5-phosphatase, 72 kDa		C		0,4406		0,0,2203	245.0	153.0	184.0		1626	-0.8	1.0	9	dbSNP_134	184	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	INPP5E	NM_019892.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		542/645	139325493	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139325493C>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1626G>A	9.37:g.139325493C>T							p.T542T	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	8	2028	-		Myeloproliferative disorder(178;0.0511)	542					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.1626G>A	CCDS7000.1																																																																																				0.617	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		48	203	0	0	0	1	0	48	203				
CCDC114	93233	broad.mit.edu	37	19	48806982	48806982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806982C>T	ENST00000315396.7	-	8	1484	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	268					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGGGCGTCCTCGTAGCAAAGC	0.632																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(802-804)Gag>Aag		coiled-coil domain containing 114							89.0	87.0	88.0					19																	48806982		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806982C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.802G>A	19.37:g.48806982C>T	ENSP00000318429:p.Glu268Lys						p.E268K	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	8	1484	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	268					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.802G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323115	0.41096	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.02	1.94	0.25998	.	.	.	.	.	T	0.44623	0.1302	M	0.66378	2.025	0.34629	D	0.719466	D;D;D	0.71674	0.998;0.987;0.995	P;P;P	0.54706	0.676;0.661;0.759	T	0.54788	-0.8241	9	0.34782	T	0.22	-17.9378	7.9692	0.30117	0.0:0.7455:0.2545:0.0	.	61;268;268	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	268	ENSP00000318429:E268K	ENSP00000318429:E268K	E	-	1	0	CCDC114	53498794	0.869000	0.29996	0.482000	0.27366	0.216000	0.24613	1.399000	0.34566	0.583000	0.29574	-0.182000	0.12963	GAG		0.632	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		121	472	0	0	0	1	0	121	472				
XDH	7498	broad.mit.edu	37	2	31560588	31560588	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31560588G>A	ENST00000379416.3	-	35	3918	c.3870C>T	c.(3868-3870)aaC>aaT	p.N1290N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1290					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTTCCTTCACGTTATTACCTG	0.562																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3868-3870)aaC>aaT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						110.0	96.0	101.0					2																	31560588		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31560588G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3870C>T	2.37:g.31560588G>A							p.N1290N	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			35	3918	-	Acute lymphoblastic leukemia(172;0.155)		1290					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.3870C>T	CCDS1775.1																																																																																				0.562	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		108	351	0	0	0	1	0	108	351				
L2HGDH	79944	broad.mit.edu	37	14	50768820	50768820	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50768820A>G	ENST00000267436.4	-	3	720	c.323T>C	c.(322-324)cTg>cCg	p.L108P	L2HGDH_ENST00000261699.4_Missense_Mutation_p.L108P|MIR4504_ENST00000577413.1_RNA|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	108					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTTGGCTTTCAGAGACTCAGG	0.408																																						ENST00000267436.4																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10						c.(322-324)cTg>cCg		L-2-hydroxyglutarate dehydrogenase							148.0	143.0	145.0					14																	50768820		2203	4300	6503	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50768820A>G		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.323T>C	14.37:g.50768820A>G	ENSP00000267436:p.Leu108Pro					L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.L108P|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P	p.L108P			Q9H9P8	L2HDH_HUMAN			3	720	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		108					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.323T>C	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498281	0.85069	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000557131;ENST00000555423;ENST00000555610	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.55	5.55	0.83447	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96226	0.9164	10	0.87932	D	0	-10.6461	16.008	0.80377	1.0:0.0:0.0:0.0	.	108;108	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	108	ENSP00000261699:L108P;ENSP00000267436:L108P;ENSP00000405559:L108P;ENSP00000450494:L108P;ENSP00000452483:L108P	ENSP00000261699:L108P	L	-	2	0	L2HGDH	49838570	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	9.089000	0.94137	2.250000	0.74265	0.533000	0.62120	CTG		0.408	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		101	429	0	0	0	1	0	101	429				
CBX2	84733	broad.mit.edu	37	17	77757883	77757883	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77757883T>G	ENST00000310942.4	+	5	745	c.641T>G	c.(640-642)cTg>cGg	p.L214R		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	214					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGGCAGCTCTGAAGGCCCAC	0.706																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(640-642)cTg>cGg		chromobox homolog 2							15.0	20.0	18.0					17																	77757883		2160	4263	6423	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77757883T>G	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.641T>G	17.37:g.77757883T>G	ENSP00000308750:p.Leu214Arg						p.L214R	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	745	+			214					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.641T>G	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345067	0.61073	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	5.47	0.80525	.	1.293620	0.04930	N	0.456680	T	0.65196	0.2668	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.52631	-0.8550	9	0.08837	T	0.75	-1.1594	15.206	0.73180	0.0:0.0:0.0:1.0	.	214	Q14781	CBX2_HUMAN	R	214	.	ENSP00000308750:L214R	L	+	2	0	CBX2	75372478	1.000000	0.71417	0.990000	0.47175	0.897000	0.52465	2.464000	0.45067	2.083000	0.62718	0.533000	0.62120	CTG		0.706	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		56	208	0	0	0	1	0	56	208				
NFASC	23114	broad.mit.edu	37	1	204985538	204985538	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204985538C>T	ENST00000401399.1	+	29	3793	c.3594C>T	c.(3592-3594)ggC>ggT	p.G1198G	NFASC_ENST00000339876.6_Silent_p.G1198G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000367172.4_Silent_p.G1305G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000367170.4_Silent_p.G1226G			O94856	NFASC_HUMAN	neurofascin	1305	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGAGGGTGGCGAGGGTCAGT	0.572																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3913-3915)ggC>ggT		neurofascin							200.0	180.0	186.0					1																	204985538		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204985538C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3594C>T	1.37:g.204985538C>T						NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000401399.1_Silent_p.G1198G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000367170.4_Silent_p.G1226G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000339876.6_Silent_p.G1198G	p.G1305G			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		32	4243	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1305					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.3915C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120606	0.20877	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.34	-2.51	0.06365	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33954	-0.9848	4	.	.	.	.	4.3579	0.11187	0.1509:0.3015:0.4082:0.1395	.	.	.	.	V	999;256	.	.	A	+	2	0	NFASC	203252161	0.000000	0.05858	0.967000	0.41034	0.968000	0.65278	-2.994000	0.00656	-0.231000	0.09825	-0.344000	0.07964	GCG		0.572	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		68	672	0	0	0	1	0	68	672				
IGHG1	3500	broad.mit.edu	37	14	106208468	106208468	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106208468G>A	ENST00000390548.2	-	0	431							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCACCACCACGCATGTGACCT	0.602																																						ENST00000390548.2																			0																				116.0	107.0	110.0					14																	106208468		2121	4205	6326			0							g.chr14:106208468G>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208468G>A														0	431	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.602	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		60	534	0	0	0	1	0	60	534				
GPR137	56834	broad.mit.edu	37	11	64056115	64056115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64056115G>A	ENST00000313074.3	+	6	1058	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	GPR137_ENST00000438980.2_Missense_Mutation_p.R318Q|GPR137_ENST00000539851.1_Intron|KCNK4_ENST00000422670.2_5'Flank|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R376Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	318						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TTTGCCTCTCGGTCCTACTTC	0.617																																						ENST00000438980.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(952-954)cGg>cAg		G protein-coupled receptor 137							83.0	67.0	73.0					11																	64056115		2198	4297	6495	SO:0001583	missense	56834					integral to membrane		g.chr11:64056115G>A	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.953G>A	11.37:g.64056115G>A	ENSP00000321698:p.Arg318Gln					GPR137_ENST00000313074.3_Missense_Mutation_p.R318Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q|GPR137_ENST00000539851.1_Intron|GPR137_ENST00000411458.1_Missense_Mutation_p.R376Q	p.R318Q	NM_001170880.1	NP_001164351.1	Q96N19	G137A_HUMAN			6	1060	+			318					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.953G>A	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103582	0.56291	.	.	ENSG00000173264	ENST00000411458;ENST00000377702;ENST00000438980;ENST00000313074	T;T;T	0.58652	0.32;0.41;0.36	4.84	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.45352	1.415	0.80722	D	1	P;D;P;D	0.71674	0.938;0.998;0.883;0.978	B;P;B;P	0.56563	0.364;0.801;0.235;0.457	T	0.58272	-0.7665	10	0.66056	D	0.02	-8.6912	6.3244	0.21234	0.0975:0.0:0.7238:0.1787	.	376;318;318;268	B4DTG7;Q96N19-2;Q96N19;Q96N19-3	.;.;G137A_HUMAN;.	Q	376;268;318;318	ENSP00000411827:R376Q;ENSP00000415698:R318Q;ENSP00000321698:R318Q	ENSP00000321698:R318Q	R	+	2	0	GPR137	63812691	0.998000	0.40836	0.993000	0.49108	0.863000	0.49368	6.880000	0.75578	1.029000	0.39812	0.462000	0.41574	CGG		0.617	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		14	71	0	0	0	1	0	14	71				
PCDH10	57575	broad.mit.edu	37	4	134071914	134071914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071914G>T	ENST00000264360.5	+	1	1445	c.619G>T	c.(619-621)Gga>Tga	p.G207*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	207	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGACggaggaggtggggg	0.692																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(619-621)Gga>Tga		protocadherin 10							32.0	32.0	32.0					4																	134071914		2203	4297	6500	SO:0001587	stop_gained	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071914G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.619G>T	4.37:g.134071914G>T	ENSP00000264360:p.Gly207*						p.G207*	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1445	+			207			Cadherin 2.		Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	37	c.619G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	45	11.398851	0.99556	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.42	4.42	0.53409	.	0.000000	0.36665	N	0.002475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8044	0.85622	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264360:G207X	G	+	1	0	PCDH10	134291364	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.435000	0.90297	2.261000	0.74972	0.561000	0.74099	GGA		0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		68	245	1	0	1.34159e-35	1	1.60235e-35	68	245				
MTOR	2475	broad.mit.edu	37	1	11317062	11317062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11317062G>A	ENST00000361445.4	-	4	508	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	144	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAAATTCCACGTACTCAGCGG	0.577																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(430-432)taC>taT		mechanistic target of rapamycin (serine/threonine kinase)							76.0	64.0	68.0					1																	11317062		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11317062G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.432C>T	1.37:g.11317062G>A							p.Y144Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			4	508	-			144					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.432C>T	CCDS127.1																																																																																				0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		20	113	0	0	0	1	0	20	113				
DCLK1	9201	broad.mit.edu	37	13	36367610	36367610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36367610C>T	ENST00000360631.3	-	16	2162	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	DCLK1_ENST00000255448.4_Missense_Mutation_p.G651S|DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	651					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTGGGAGGCCATCATCCTGG	0.398																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1951-1953)Ggc>Agc		doublecortin-like kinase 1							178.0	172.0	174.0					13																	36367610		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36367610C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1951G>A	13.37:g.36367610C>T	ENSP00000353846:p.Gly651Ser					DCLK1_ENST00000360631.3_Missense_Mutation_p.G651S|DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S	p.G651S	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	16	2162	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	651					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1951G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.194910|3.194910	0.58017|0.58017	.|.	.|.	ENSG00000133083|ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893|ENST00000539451	T;T;T|.	0.38560|.	1.13;1.13;1.13|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Protein kinase-like domain (1);|.	0.111469|.	0.64402|.	D|.	0.000010|.	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.13140|0.13140	0.3|0.3	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26975|.	0.165;0.005;0.016;0.165|.	B;B;B;B|.	0.30401|.	0.115;0.009;0.02;0.115|.	T|T	0.62011|0.62011	-0.6944|-0.6944	10|6	0.42905|0.72032	T|D	0.14|0.01	.|.	19.3844|19.3844	0.94551|0.94551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;651;651;344|.	O15075-4;O15075;O15075-2;O15075-3|.	.;DCLK1_HUMAN;.;.|.	S|I	343;651;651;344|609	ENSP00000255448:G651S;ENSP00000353846:G651S;ENSP00000369223:G344S|.	ENSP00000255448:G651S|ENSP00000441665:M609I	G|M	-|-	1|3	0|0	DCLK1|DCLK1	35265610|35265610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.711000|3.711000	0.54868|0.54868	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GGC|ATG		0.398	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		62	263	0	0	0	1	0	62	263				
MMEL1	79258	broad.mit.edu	37	1	2523018	2523018	+	Missense_Mutation	SNP	C	C	T	rs199987335		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2523018C>T	ENST00000378412.3	-	23	2379	c.2218G>A	c.(2218-2220)Gtc>Atc	p.V740I	MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I|MMEL1_ENST00000288709.6_Missense_Mutation_p.V731I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	740						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGACTGTGGACGTCTGTCTTG	0.617																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(2191-2193)Gtc>Atc		membrane metallo-endopeptidase-like 1							163.0	155.0	158.0					1																	2523018		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2523018C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2218G>A	1.37:g.2523018C>T	ENSP00000367668:p.Val740Ile					MMEL1_ENST00000378412.3_Missense_Mutation_p.V740I|MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I	p.V731I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	23	2431	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	740					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.2191G>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	9.177	1.022710	0.19433	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.91068	-2.78;-2.78;-2.78	3.87	3.87	0.44632	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.205916	0.42682	D	0.000667	D	0.88753	0.6522	M	0.77313	2.365	0.41580	D	0.988738	P	0.35780	0.52	B	0.30029	0.11	D	0.89714	0.3914	10	0.54805	T	0.06	-42.3512	12.6873	0.56954	0.0:1.0:0.0:0.0	.	740	Q495T6	MMEL1_HUMAN	I	583;731;740;583	ENSP00000288709:V731I;ENSP00000367668:V740I;ENSP00000422492:V583I	ENSP00000288709:V731I	V	-	1	0	MMEL1	2512878	0.992000	0.36948	0.832000	0.32986	0.084000	0.17831	3.089000	0.50183	1.990000	0.58119	0.561000	0.74099	GTC		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		172	652	0	0	0	1	0	172	652				
GPRC6A	222545	broad.mit.edu	37	6	117121752	117121752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117121752G>A	ENST00000310357.3	-	4	1564	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F	GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	515					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTACCTTAAGATTCCTGAAC	0.428																																						ENST00000310357.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(1543-1545)Ctt>Ttt		G protein-coupled receptor, family C, group 6, member A							163.0	140.0	148.0					6																	117121752		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117121752G>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1543C>T	6.37:g.117121752G>A	ENSP00000309493:p.Leu515Phe					GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F	p.L515F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	4	1564	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	515					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.1543C>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792635	0.16258	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.90955	-2.51;-2.76	5.35	4.49	0.54785	.	0.000000	0.44483	D	0.000448	T	0.79015	0.4375	N	0.08118	0	0.36485	D	0.868098	D;D	0.56968	0.978;0.974	P;P	0.54815	0.761;0.553	T	0.83025	-0.0165	10	0.56958	D	0.05	.	5.8547	0.18712	0.3116:0.0:0.6884:0.0	.	340;515	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	F	515;340	ENSP00000309493:L515F;ENSP00000433465:L340F	ENSP00000309493:L515F	L	-	1	0	GPRC6A	117228445	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	2.238000	0.43070	1.498000	0.48600	0.585000	0.79938	CTT		0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			88	383	0	0	0	1	0	88	383				
SF1	7536	broad.mit.edu	37	11	64537827	64537827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64537827C>T	ENST00000377390.3	-	4	627	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SF1_ENST00000422298.2_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000334944.5_Missense_Mutation_p.R97Q|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q|SF1_ENST00000227503.9_Missense_Mutation_p.R97Q	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	97					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGAACTCTCGGGTGTTAAG	0.537																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(289-291)cGa>cAa		splicing factor 1							118.0	117.0	117.0					11																	64537827		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537827C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.290G>A	11.37:g.64537827C>T	ENSP00000366607:p.Arg97Gln					SF1_ENST00000334944.5_Missense_Mutation_p.R97Q|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.R97Q|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q	p.R97Q	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			4	627	-			97					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.290G>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698736	0.88830	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.64618	-0.11;-0.02;0.0;0.18;-0.05;-0.01	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;P;D;D	0.69654	0.965;0.935;0.903;0.955;0.955	D	0.85181	0.1004	10	0.87932	D	0	.	17.5684	0.87927	0.0:1.0:0.0:0.0	.	97;97;97;97;222	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	Q	222;97;97;97;97;71	ENSP00000366604:R222Q;ENSP00000366607:R97Q;ENSP00000227503:R97Q;ENSP00000366611:R97Q;ENSP00000334414:R97Q;ENSP00000396793:R71Q	ENSP00000227503:R97Q	R	-	2	0	SF1	64294403	1.000000	0.71417	0.950000	0.38849	0.975000	0.68041	7.264000	0.78432	2.748000	0.94277	0.462000	0.41574	CGA		0.537	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		55	589	0	0	0	1	0	55	589				
XRN2	22803	broad.mit.edu	37	20	21346218	21346218	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21346218G>T	ENST00000377191.3	+	26	2427	c.2332G>T	c.(2332-2334)Gca>Tca	p.A778S	XRN2_ENST00000430571.2_Missense_Mutation_p.A702S|XRN2_ENST00000539513.1_Missense_Mutation_p.A724S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	778					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGAAAGCCAGCAGCAGTACT	0.443																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2332-2334)Gca>Tca		5'-3' exoribonuclease 2							95.0	94.0	94.0					20																	21346218		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21346218G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2332G>T	20.37:g.21346218G>T	ENSP00000366396:p.Ala778Ser					XRN2_ENST00000539513.1_Missense_Mutation_p.A724S|XRN2_ENST00000430571.2_Missense_Mutation_p.A702S	p.A778S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			26	2427	+			778					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2332G>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191333	0.21954	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.17854	2.25;2.25;2.25	5.95	4.02	0.46733	.	0.315883	0.38837	N	0.001552	T	0.07999	0.0200	N	0.16903	0.455	0.26128	N	0.980453	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	10	0.09084	T	0.74	-5.6952	5.5639	0.17160	0.1286:0.1125:0.6428:0.1161	.	778	Q9H0D6	XRN2_HUMAN	S	778;702;724	ENSP00000366396:A778S;ENSP00000413548:A702S;ENSP00000441113:A724S	ENSP00000366396:A778S	A	+	1	0	XRN2	21294218	0.996000	0.38824	0.998000	0.56505	0.486000	0.33341	0.564000	0.23563	0.867000	0.35654	-0.136000	0.14681	GCA		0.443	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		66	344	1	0	3.37205e-40	1	4.08638e-40	66	344				
LPAR6	10161	broad.mit.edu	37	13	48986181	48986181	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48986181G>T	ENST00000378434.4	-	7	2003	c.379C>A	c.(379-381)Cta>Ata	p.L127I	LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGGTTCTTAGAGTCTTTGAC	0.418																																						ENST00000378434.4																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(379-381)Cta>Ata		lysophosphatidic acid receptor 6							38.0	39.0	39.0					13																	48986181		2203	4300	6503	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48986181G>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.379C>A	13.37:g.48986181G>T	ENSP00000367691:p.Leu127Ile					LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I|RB1_ENST00000267163.4_Intron	p.L127I	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN			7	2003	-			127					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.379C>A	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189123	0.21954	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.71698	-0.59;-0.59	6.06	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.232564	0.35585	N	0.003120	T	0.49389	0.1554	N	0.16130	0.375	0.39018	D	0.95969	B	0.09022	0.002	B	0.15870	0.014	T	0.44267	-0.9339	10	0.22109	T	0.4	.	8.3214	0.32132	0.0702:0.0:0.5526:0.3772	.	127	P43657	LPAR6_HUMAN	I	127	ENSP00000367691:L127I;ENSP00000344353:L127I	ENSP00000344353:L127I	L	-	1	2	LPAR6	47884182	0.960000	0.32886	1.000000	0.80357	0.999000	0.98932	1.609000	0.36858	1.547000	0.49401	0.655000	0.94253	CTA		0.418	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		9	110	1	0	2.17888e-05	1	2.22852e-05	9	110				
DHX16	8449	broad.mit.edu	37	6	30630467	30630467	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30630467C>T	ENST00000376442.3	-	9	1676	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	494	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TGTCATGTAGCGGAGGACAGT	0.547																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1480-1482)cGc>cAc		DEAH (Asp-Glu-Ala-His) box polypeptide 16							100.0	80.0	87.0					6																	30630467		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30630467C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1481G>A	6.37:g.30630467C>T	ENSP00000365625:p.Arg494His						p.R494H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			9	1676	-			494			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1481G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663347	0.88251	.	.	ENSG00000204560	ENST00000376442	T	0.32515	1.45	5.39	5.39	0.77823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.052497	0.64402	D	0.000001	T	0.29976	0.0750	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.58266	0.836;0.803	T	0.09640	-1.0665	10	0.87932	D	0	.	8.0096	0.30344	0.0:0.8351:0.0:0.1648	.	434;494	B4DZ28;O60231	.;DHX16_HUMAN	H	494	ENSP00000365625:R494H	ENSP00000365625:R494H	R	-	2	0	DHX16	30738446	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.861000	0.62969	2.809000	0.96659	0.555000	0.69702	CGC		0.547	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		54	203	0	0	0	1	0	54	203				
TLK2	11011	broad.mit.edu	37	17	60642396	60642396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60642396G>T	ENST00000326270.9	+	11	1134	c.866G>T	c.(865-867)aGc>aTc	p.S289I	TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000346027.5_Missense_Mutation_p.S289I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|TLK2_ENST00000582809.1_Missense_Mutation_p.S140I	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	289					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGAGATAAGAGCATGCAAGAC	0.413																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(418-420)aGc>aTc		tousled-like kinase 2							116.0	97.0	103.0					17																	60642396		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60642396G>T	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.866G>T	17.37:g.60642396G>T	ENSP00000316512:p.Ser289Ile					TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|TLK2_ENST00000346027.5_Missense_Mutation_p.S289I|TLK2_ENST00000326270.9_Missense_Mutation_p.S289I	p.S140I			Q86UE8	TLK2_HUMAN			12	1122	+			289					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.419G>T		.	.	.	.	.	.	.	.	.	.	G	15.71	2.913136	0.52439	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66099	-0.14;-0.19;-0.15;-0.19	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	L	0.36672	1.1	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.094;0.409	D;B;B;B	0.87578	0.998;0.032;0.108;0.119	T	0.63659	-0.6587	10	0.18710	T	0.47	.	17.2555	0.87055	0.0:0.0:1.0:0.0	.	289;257;289;289	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	I	289;257;289;257	ENSP00000275780:S289I;ENSP00000340800:S257I;ENSP00000316512:S289I;ENSP00000442311:S257I	ENSP00000316512:S289I	S	+	2	0	TLK2	57996128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.558000	0.86282	0.655000	0.94253	AGC		0.413	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		53	236	1	0	9.52127e-25	1	1.09014e-24	53	236				
TTN	7273	broad.mit.edu	37	2	179458929	179458929	+	Silent	SNP	C	C	T	rs370091658		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458929C>T	ENST00000591111.1	-	247	53492	c.53268G>A	c.(53266-53268)acG>acA	p.T17756T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T|TTN_ENST00000460472.2_Silent_p.T10332T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.T19397T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17756	Ig-like 104.				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)			CAACTCGAATCGTGAGCTTAT	0.418																																						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.(58189-58191)acG>acA		titin		C	,,,	0,3814		0,0,1907	72.0	67.0	69.0		30996,50487,31371,31572	-12.3	0.0	2		69	1,8249		0,1,4124	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6031	TT,TC,CC		0.0121,0.0,0.0083	,,,	10332/26927,16829/33424,10457/27052,10524/27119	179458929	1,12063	1907	4125	6032	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458929C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53268G>A	2.37:g.179458929C>T						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN_ENST00000460472.2_Silent_p.T10332T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.T17756T|TTN-AS1_ENST00000592689.1_RNA	p.T19397T	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)		297	58415	-			17756			Fibronectin type-III 40.		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.58191G>A																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	252	0	0	0	1	0	53	252				
SKIV2L	6499	broad.mit.edu	37	6	31930327	31930327	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930327G>T	ENST00000375394.2	+	11	1289	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D	SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	392	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATCCGGAGGCCTCCTGCC	0.572																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1174-1176)gaG>gaT		superkiller viralicidic activity 2-like (S. cerevisiae)							60.0	56.0	57.0					6																	31930327		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930327G>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1176G>T	6.37:g.31930327G>T	ENSP00000364543:p.Glu392Asp					SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	p.E392D	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			11	1289	+			392			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1176G>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958804	0.34565	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.71103	-0.54;-0.54	5.49	-0.429	0.12303	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056470	0.64402	D	0.000001	T	0.19327	0.0464	N	0.05280	-0.08	0.40523	D	0.980855	B	0.13145	0.007	B	0.10450	0.005	T	0.03249	-1.1056	10	0.21014	T	0.42	-25.6916	2.1569	0.03814	0.409:0.1223:0.3444:0.1242	.	392	Q15477	SKIV2_HUMAN	D	392;234;199	ENSP00000364543:E392D;ENSP00000442645:E199D	ENSP00000364543:E392D	E	+	3	2	SKIV2L	32038306	0.883000	0.30277	0.870000	0.34147	0.700000	0.40528	-0.036000	0.12185	-0.014000	0.14175	-0.345000	0.07892	GAG		0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			49	206	1	0	6.31075e-24	1	7.19376e-24	49	206				
TSHZ1	10194	broad.mit.edu	37	18	72998525	72998525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998525C>T	ENST00000580243.1	+	2	1511	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P343L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	388					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGCGAACCCGTACGTCACG	0.622																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1027-1029)cCg>cTg		teashirt zinc finger homeobox 1							104.0	109.0	108.0					18																	72998525		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998525C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1163C>T	18.37:g.72998525C>T	ENSP00000464391:p.Pro388Leu					TSHZ1_ENST00000580243.1_Missense_Mutation_p.P388L	p.P343L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1612	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	388					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1028C>T		.	.	.	.	.	.	.	.	.	.	C	10.22	1.290455	0.23478	.	.	ENSG00000179981	ENST00000322038	T	0.11604	2.76	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.35593	1.075	0.42428	D	0.992664	D	0.89917	1.0	D	0.64506	0.926	T	0.13899	-1.0492	10	0.02654	T	1	-26.8549	18.8997	0.92437	0.0:1.0:0.0:0.0	.	388	Q6ZSZ6	TSH1_HUMAN	L	343	ENSP00000323584:P343L	ENSP00000323584:P343L	P	+	2	0	TSHZ1	71127513	1.000000	0.71417	0.903000	0.35520	0.304000	0.27724	7.343000	0.79319	-1.153000	0.02829	-1.134000	0.01955	CCG		0.622	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		54	298	0	0	0	1	0	54	298				
LSM4	25804	broad.mit.edu	37	19	18420644	18420644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18420644C>T	ENST00000593829.1	-	4	425	c.172G>A	c.(172-174)Gag>Aag	p.E58K	LSM4_ENST00000252816.6_Missense_Mutation_p.E44K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	58					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)	p.E58K(1)		endometrium(1)|large_intestine(2)|lung(3)	6						ATGTAGCACTCGGGCATCCGC	0.667																																						ENST00000593829.1																			1	Substitution - Missense(1)	p.E58K(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(3)	6						c.(172-174)Gag>Aag		LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)							51.0	42.0	45.0					19																	18420644		2203	4300	6503	SO:0001583	missense	25804				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	g.chr19:18420644C>T	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.172G>A	19.37:g.18420644C>T	ENSP00000469468:p.Glu58Lys					LSM4_ENST00000252816.5_Missense_Mutation_p.E44K	p.E58K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN			4	425	-			58						Missense_Mutation	SNP	ENST00000593829.1	37	c.172G>A	CCDS12374.1	.	.	.	.	.	.	.	.	.	.	c	32	5.117333	0.94385	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.47	4.47	0.54385	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.82433	2.59	0.80722	D	1	P	0.47302	0.893	P	0.47376	0.545	T	0.79562	-0.1752	9	0.87932	D	0	9.9037	16.5142	0.84295	0.0:1.0:0.0:0.0	.	58	Q9Y4Z0	LSM4_HUMAN	K	58	.	ENSP00000252816:E58K	E	-	1	0	LSM4	18281644	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.353000	0.66034	2.211000	0.71520	0.457000	0.33378	GAG		0.667	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1			32	158	0	0	0	1	0	32	158				
SLC30A8	169026	broad.mit.edu	37	8	118175760	118175760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118175760C>T	ENST00000456015.2	+	6	820	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F|SLC30A8_ENST00000427715.2_Missense_Mutation_p.L225F	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	274					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTCCATCTTACTCATGGAAGG	0.428																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(673-675)Ctc>Ttc		solute carrier family 30 (zinc transporter), member 8							122.0	118.0	119.0					8																	118175760		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175760C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.820C>T	8.37:g.118175760C>T	ENSP00000415011:p.Leu274Phe					SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F|SLC30A8_ENST00000456015.2_Missense_Mutation_p.L274F|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F	p.L225F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		9	1107	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		274					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.673C>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016112	0.75161	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.95	4.06	0.47325	.	0.000000	0.64402	D	0.000001	D	0.92378	0.7581	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93116	0.6521	10	0.87932	D	0	-15.5648	11.6831	0.51470	0.0:0.9106:0.0:0.0894	.	274	Q8IWU4	ZNT8_HUMAN	F	225;225;225;274	ENSP00000428545:L225F;ENSP00000407505:L225F;ENSP00000431069:L225F;ENSP00000415011:L274F	ENSP00000407505:L225F	L	+	1	0	SLC30A8	118244941	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	2.015000	0.40961	1.388000	0.46506	0.655000	0.94253	CTC		0.428	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		66	266	0	0	0	1	0	66	266				
TMEM132D	121256	broad.mit.edu	37	12	129566325	129566325	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129566325C>T	ENST00000422113.2	-	7	2228	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	TMEM132D_ENST00000389441.4_Silent_p.E172E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	634					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCATCCCAAGCTCCTGCCCCA	0.498																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1900-1902)gaG>gaA		transmembrane protein 132D							45.0	43.0	44.0					12																	129566325		2203	4299	6502	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129566325C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1902G>A	12.37:g.129566325C>T						TMEM132D_ENST00000389441.4_Silent_p.E172E	p.E634E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2228	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	634					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1902G>A	CCDS9266.1																																																																																				0.498	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		60	245	0	0	0	1	0	60	245				
ZNF398	57541	broad.mit.edu	37	7	148851044	148851044	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851044A>C	ENST00000475153.1	+	2	299	c.32A>C	c.(31-33)gAa>gCa	p.E11A	ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	11					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGACATCTGAATGGGACTCC	0.498																																						ENST00000475153.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(31-33)gAa>gCa		zinc finger protein 398							80.0	76.0	78.0					7																	148851044		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851044A>C	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.32A>C	7.37:g.148851044A>C	ENSP00000420418:p.Glu11Ala					ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR	p.E11A			Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	299	+	Melanoma(164;0.15)		11					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.32A>C	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953521	0.73902	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.09911	3.13;2.93	5.1	5.1	0.69264	.	0.000000	0.48767	D	0.000172	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.956	T	0.01993	-1.1233	10	0.87932	D	0	-15.7009	11.2938	0.49267	1.0:0.0:0.0:0.0	.	16;11	B4DXA9;Q8TD17	.;ZN398_HUMAN	A	11;16	ENSP00000420418:E11A;ENSP00000439340:E16A	ENSP00000420418:E11A	E	+	2	0	ZNF398	148481977	0.991000	0.36638	1.000000	0.80357	0.924000	0.55760	2.545000	0.45769	1.916000	0.55485	0.460000	0.39030	GAA		0.498	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			75	376	0	0	0	1	0	75	376				
KRTAP5-2	440021	broad.mit.edu	37	11	1619657	1619657	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1619657C>T	ENST00000412090.1	-	0	0				KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2							keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TTCCTCTTTGCTAGTGACTTC	0.403																																						ENST00000424148.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:1619657C>T	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4			11.37:g.1619657C>T	Exception_encountered							NR_021489.1						0	1508	+								A9JTZ1	RNA	SNP	ENST00000412090.1	37		CCDS31331.1																																																																																				0.403	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		32	117	0	0	0	1	0	32	117				
DDX47	51202	broad.mit.edu	37	12	12976838	12976838	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12976838C>A	ENST00000358007.3	+	8	807	c.785C>A	c.(784-786)gCt>gAt	p.A262D	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	262	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AATGAATTGGCTGGAAACTCC	0.423																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(784-786)gCt>gAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							180.0	177.0	178.0					12																	12976838		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12976838C>A	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.785C>A	12.37:g.12976838C>A	ENSP00000350698:p.Ala262Asp					DDX47_ENST00000352940.4_Intron|RP11-59H1.3_ENST00000534843.1_3'UTR	p.A262D	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	8	807	+		Prostate(47;0.0526)	262			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.785C>A	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743634	0.69418	.	.	ENSG00000213782	ENST00000358007	T	0.04603	3.59	5.53	5.53	0.82687	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.16266	0.395	0.80722	D	1	B;D	0.52996	0.019;0.957	B;P	0.50440	0.015;0.641	T	0.47983	-0.9074	10	0.35671	T	0.21	-16.6468	19.4703	0.94961	0.0:1.0:0.0:0.0	.	262;262	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	D	262	ENSP00000350698:A262D	ENSP00000350698:A262D	A	+	2	0	DDX47	12868105	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.578000	0.82498	2.600000	0.87896	0.561000	0.74099	GCT		0.423	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		15	713	1	0	0.000422831	1	0.000428653	15	713				
HAUS2	55142	broad.mit.edu	37	15	42853482	42853482	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42853482A>G	ENST00000260372.3	+	4	334	c.271A>G	c.(271-273)Act>Gct	p.T91A	HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	91					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						GAAGTGTCATACTCTGCAAAG	0.363																																						ENST00000260372.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(271-273)Act>Gct		HAUS augmin-like complex, subunit 2							96.0	92.0	93.0					15																	42853482		2203	4299	6502	SO:0001583	missense	55142				cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle		g.chr15:42853482A>G	AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.271A>G	15.37:g.42853482A>G	ENSP00000260372:p.Thr91Ala					HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	p.T91A	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN			4	334	+			91					C9JH36|Q9H9B3	Missense_Mutation	SNP	ENST00000260372.3	37	c.271A>G	CCDS10090.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004160	0.35320	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.46451	0.87	5.8	-2.36	0.06663	.	1.191630	0.05775	N	0.607497	T	0.19725	0.0474	N	0.11427	0.14	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.25363	-1.0134	10	0.07030	T	0.85	-15.2457	8.1408	0.31082	0.3617:0.0:0.5174:0.1208	.	60;91	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	A	91;60	ENSP00000260372:T91A	ENSP00000260372:T91A	T	+	1	0	HAUS2	40640774	0.000000	0.05858	0.019000	0.16419	0.996000	0.88848	-0.165000	0.09968	-0.184000	0.10567	0.533000	0.62120	ACT		0.363	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253173.1	NM_018097		53	242	0	0	0	1	0	53	242				
UMPS	7372	broad.mit.edu	37	3	124456949	124456949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124456949C>T	ENST00000232607.2	+	3	951	c.845C>T	c.(844-846)aCt>aTt	p.T282I	UMPS_ENST00000536109.1_Missense_Mutation_p.T190I|UMPS_ENST00000413078.2_Missense_Mutation_p.T104I|UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	282	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ATGCTGAAGACTCATGTAGAT	0.413																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(844-846)aCt>aTt		uridine monophosphate synthetase							126.0	120.0	122.0					3																	124456949		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456949C>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.845C>T	3.37:g.124456949C>T	ENSP00000232607:p.Thr282Ile					UMPS_ENST00000536109.1_Missense_Mutation_p.T190I|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000413078.2_Missense_Mutation_p.T104I	p.T282I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	951	+			282			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.845C>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651757	0.67472	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.33	3.56	0.40772	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.049005	0.85682	N	0.000000	T	0.73984	0.3657	M	0.66560	2.04	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.946;0.87	D;D;D	0.77004	0.989;0.925;0.919	T	0.73487	-0.3967	10	0.52906	T	0.07	-13.1542	10.057	0.42250	0.0:0.8464:0.0:0.1536	.	104;104;282	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	I	282;190;104;104	ENSP00000232607:T282I;ENSP00000443577:T190I;ENSP00000444988:T104I;ENSP00000397965:T104I	ENSP00000232607:T282I	T	+	2	0	UMPS	125939639	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.322000	0.65852	0.836000	0.34901	0.655000	0.94253	ACT		0.413	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		72	402	0	0	0	1	0	72	402				
DOCK4	9732	broad.mit.edu	37	7	111575597	111575597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111575597G>A	ENST00000437633.1	-	12	1320	c.1064C>T	c.(1063-1065)gCa>gTa	p.A355V	DOCK4_ENST00000428084.1_Missense_Mutation_p.A355V|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	355					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACACTCACCTGCATTGGAGCC	0.408																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(1063-1065)gCa>gTa		dedicator of cytokinesis 4							226.0	228.0	227.0					7																	111575597		2041	4180	6221	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111575597G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1064C>T	7.37:g.111575597G>A	ENSP00000404179:p.Ala355Val					DOCK4_ENST00000437633.1_Missense_Mutation_p.A355V|DOCK4_ENST00000476846.1_5'UTR	p.A355V			Q8N1I0	DOCK4_HUMAN			12	1336	-		Acute lymphoblastic leukemia(1;0.0441)	355					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1064C>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.66|17.66	3.443560|3.443560	0.63067|0.63067	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.03065|.	4.06;4.06|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.110120|.	0.64402|.	D|.	0.000004|.	T|.	0.52386|.	0.1731|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25955|.	0.138;0.128;0.128|.	B;B;B|.	0.29353|.	0.045;0.101;0.045|.	T|.	0.45498|.	-0.9257|.	10|.	0.19147|.	T|.	0.46|.	.|.	20.0137|20.0137	0.97470|0.97470	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355;355;355|.	A4D0S8;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	V|X	343;355;355;343;354|343	ENSP00000410746:A355V;ENSP00000404179:A355V|.	ENSP00000345432:A343V|.	A|Q	-|-	2|1	0|0	DOCK4|DOCK4	111362833|111362833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.334000|9.334000	0.96470|0.96470	2.734000|2.734000	0.93682|0.93682	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		10	356	0	0	0	1	0	10	356				
ZBTB45	84878	broad.mit.edu	37	19	59027844	59027844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027844C>T	ENST00000594051.1	-	2	1677	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	ZBTB45_ENST00000600990.1_Silent_p.E399E|ZBTB45_ENST00000354590.3_Silent_p.E399E			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	399	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		ACGTAGGTGGCTCAGCACCTG	0.657																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(1195-1197)gaG>gaA		zinc finger and BTB domain containing 45							55.0	54.0	54.0					19																	59027844		2203	4300	6503	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59027844C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1197G>A	19.37:g.59027844C>T						ZBTB45_ENST00000600990.1_Silent_p.E399E|ZBTB45_ENST00000354590.3_Silent_p.E399E	p.E399E			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1677	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	399			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.1197G>A	CCDS12984.1																																																																																				0.657	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		6	208	0	0	0	1	0	6	208				
RP11-337C18.8	0	broad.mit.edu	37	1	146650130	146650130	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146650130G>T	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							AAGAATTTAAGAAATTCATTA	0.458																																						ENST00000607149.1																			0																																																			0							g.chr1:146650130G>T																													1.37:g.146650130G>T														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.458	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			33	460	1	0	3.80469e-20	1	4.25708e-20	33	460				
KIF19	124602	broad.mit.edu	37	17	72345379	72345379	+	Silent	SNP	C	C	T	rs372926359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72345379C>T	ENST00000389916.4	+	10	1242	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	368					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCATCATCGCTGACCTGC	0.642																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1102-1104)atC>atT		kinesin family member 19		C		0,4406		0,0,2203	75.0	64.0	68.0		1104	3.8	0.9	17		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF19	NM_153209.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		368/999	72345379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345379C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1104C>T	17.37:g.72345379C>T							p.I368I	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			10	1242	+			368					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1104C>T	CCDS32718.2																																																																																				0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		37	174	0	0	0	1	0	37	174				
NUAK2	81788	broad.mit.edu	37	1	205275355	205275355	+	Silent	SNP	C	C	T	rs377400744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205275355C>T	ENST00000367157.3	-	5	777	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAATCTCTGGCGAGGCATAGA	0.537																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(649-651)tcG>tcA		NUAK family, SNF1-like kinase, 2		C		0,4406		0,0,2203	97.0	96.0	97.0		651	-11.5	0.0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK2	NM_030952.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		217/629	205275355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205275355C>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.651G>A	1.37:g.205275355C>T							p.S217S	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	777	-	Breast(84;0.186)		217			Protein kinase.			Silent	SNP	ENST00000367157.3	37	c.651G>A	CCDS1453.1																																																																																				0.537	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		88	364	0	0	0	1	0	88	364				
CC2D2A	57545	broad.mit.edu	37	4	15534870	15534870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15534870G>T	ENST00000503292.1	+	15	1701	c.1521G>T	c.(1519-1521)aaG>aaT	p.K507N	CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	507					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CATTGCTTAAGACTATCATAA	0.323																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1519-1521)aaG>aaT		coiled-coil and C2 domain containing 2A							58.0	57.0	57.0					4																	15534870		1810	4068	5878	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15534870G>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1521G>T	4.37:g.15534870G>T	ENSP00000421809:p.Lys507Asn					CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.K507N	p.K507N			Q9P2K1	C2D2A_HUMAN			14	1775	+			507					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.1521G>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631078	0.67015	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	D;D;T;D;D	0.84730	-1.88;-1.88;-0.31;-1.88;-1.89	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.90607	0.7055	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.89871	0.4023	10	0.51188	T	0.08	.	9.6005	0.39601	0.2355:0.0:0.7645:0.0	.	507;458	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	507;507;458;458;507;507;458	ENSP00000403465:K507N;ENSP00000398391:K507N;ENSP00000422875:K507N;ENSP00000421809:K507N;ENSP00000374303:K458N	ENSP00000374303:K458N	K	+	3	2	CC2D2A	15143968	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.636000	0.37144	1.193000	0.43086	0.557000	0.71058	AAG		0.323	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		11	72	1	0	1.08611e-07	1	1.12939e-07	11	72				
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T	rs564272056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(445-447)cGg>cAg		alkB, alkylation repair homolog 4 (E. coli)							24.0	25.0	25.0					7																	102098304		2202	4299	6501	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098304C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.446G>A	7.37:g.102098304C>T	ENSP00000292566:p.Arg149Gln						p.R149Q	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			3	485	-			149					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.446G>A	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681915	0.14907	.	.	ENSG00000160993	ENST00000292566	T	0.46063	0.88	4.56	-2.03	0.07365	.	0.599443	0.16196	N	0.225149	T	0.12518	0.0304	N	0.02985	-0.445	0.30285	N	0.790978	B	0.15719	0.014	B	0.08055	0.003	T	0.30995	-0.9959	10	0.09338	T	0.73	-14.5705	4.4711	0.11714	0.261:0.2274:0.0:0.5116	.	149	Q9NXW9	ALKB4_HUMAN	Q	149	ENSP00000292566:R149Q	ENSP00000292566:R149Q	R	-	2	0	ALKBH4	101885309	0.994000	0.37717	0.976000	0.42696	0.960000	0.62799	0.346000	0.19997	-0.161000	0.10983	-0.258000	0.10820	CGG		0.692	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		20	194	0	0	0	1	0	20	194				
SLC35G3	146861	broad.mit.edu	37	17	33521164	33521164	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33521164C>A	ENST00000297307.5	-	1	248	c.163G>T	c.(163-165)Ggc>Tgc	p.G55C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	55	EamA 1.					integral component of membrane (GO:0016021)											GAAAGGGGGCCCACGAAGCCA	0.647																																						ENST00000297307.5																			0											c.(163-165)Ggc>Tgc		solute carrier family 35, member G3							62.0	67.0	66.0					17																	33521164		2203	4296	6499	SO:0001583	missense	146861					integral to membrane		g.chr17:33521164C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.163G>T	17.37:g.33521164C>A	ENSP00000297307:p.Gly55Cys						p.G55C	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	248	-			55			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.163G>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543684	0.27563	.	.	ENSG00000164729	ENST00000297307	T	0.53640	0.61	.	.	.	.	0.000000	0.45867	D	0.000338	T	0.47078	0.1426	N	0.24115	0.695	0.33035	D	0.530731	D	0.89917	1.0	D	0.97110	1.0	T	0.55592	-0.8117	9	0.72032	D	0.01	-6.949	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	55	Q8N808	S35G3_HUMAN	C	55	ENSP00000297307:G55C	ENSP00000297307:G55C	G	-	1	0	SLC35G3	30545277	1.000000	0.71417	0.402000	0.26371	0.404000	0.30871	1.946000	0.40283	0.064000	0.16427	0.064000	0.15345	GGC		0.647	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		108	473	1	0	9.42799e-54	1	1.17567e-53	108	473				
TTC21B	79809	broad.mit.edu	37	2	166785764	166785764	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166785764G>T	ENST00000243344.7	-	11	1404	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	423					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGAGTGTCCAGGACATCATTT	0.303																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(1267-1269)Ctg>Atg		tetratricopeptide repeat domain 21B							68.0	72.0	71.0					2																	166785764		2202	4299	6501	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166785764G>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1267C>A	2.37:g.166785764G>T	ENSP00000243344:p.Leu423Met						p.L423M	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			11	1404	-			423					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.1267C>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	g	9.882	1.201929	0.22121	.	.	ENSG00000123607	ENST00000243344	T	0.35421	1.31	5.38	-3.4	0.04853	Tetratricopeptide-like helical (1);	0.139563	0.48767	D	0.000169	T	0.37156	0.0993	L	0.50919	1.6	0.80722	D	1	D;P	0.55605	0.972;0.71	P;B	0.54629	0.757;0.352	T	0.22695	-1.0209	10	0.59425	D	0.04	-2.5633	7.1948	0.25847	0.443:0.1112:0.4458:0.0	.	423;423	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	M	423	ENSP00000243344:L423M	ENSP00000243344:L423M	L	-	1	2	TTC21B	166494010	0.778000	0.28640	0.003000	0.11579	0.311000	0.27955	0.853000	0.27777	-1.009000	0.03400	-0.144000	0.13903	CTG		0.303	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		48	162	1	0	2.77807e-22	1	3.14147e-22	48	162				
CHRM2	1129	broad.mit.edu	37	7	136700899	136700899	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700899T>C	ENST00000445907.2	+	3	1815	c.1287T>C	c.(1285-1287)tgT>tgC	p.C429C	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.C429C|CHRM2_ENST00000401861.1_Silent_p.C429C|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Silent_p.C429C|CHRM2_ENST00000320658.5_Silent_p.C429C|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	429	Agonist binding. {ECO:0000305}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACTGGCTTTGTTACATCAACA	0.438																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(1285-1287)tgT>tgC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						263.0	218.0	233.0					7																	136700899		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700899T>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1287T>C	7.37:g.136700899T>C						CHRM2_ENST00000453373.1_Silent_p.C429C|CHRM2_ENST00000401861.1_Silent_p.C429C|CHRM2_ENST00000397608.3_Silent_p.C429C|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Silent_p.C429C|AC009264.1_ENST00000597642.1_RNA	p.C429C	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1815	+			429					Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.1287T>C	CCDS5843.1																																																																																				0.438	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			108	502	0	0	0	1	0	108	502				
SH2D3A	10045	broad.mit.edu	37	19	6760689	6760689	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6760689C>A	ENST00000245908.6	-	3	648	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	127					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						ATCAGGGTGTCCTCGCTAAAG	0.602																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(379-381)Gac>Tac		SH2 domain containing 3A							40.0	38.0	39.0					19																	6760689		2203	4300	6503	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760689C>A	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.379G>T	19.37:g.6760689C>A	ENSP00000245908:p.Asp127Tyr					SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	p.D127Y	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			3	648	-			127					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.379G>T	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384192	0.25031	.	.	ENSG00000125731	ENST00000245908	T	0.16597	2.33	4.91	4.91	0.64330	.	0.151862	0.30126	N	0.010344	T	0.28200	0.0696	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	T	0.05550	-1.0878	10	0.02654	T	1	-19.2134	13.6482	0.62294	0.0:1.0:0.0:0.0	.	127	Q9BRG2	SH23A_HUMAN	Y	127	ENSP00000245908:D127Y	ENSP00000245908:D127Y	D	-	1	0	SH2D3A	6711689	0.899000	0.30636	0.998000	0.56505	0.559000	0.35586	2.484000	0.45242	2.598000	0.87819	0.549000	0.68633	GAC		0.602	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		28	111	1	0	4.59853e-10	1	4.86106e-10	28	111				
KDM2A	22992	broad.mit.edu	37	11	67018039	67018039	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67018039G>A	ENST00000529006.2	+	17	2984	c.2538G>A	c.(2536-2538)caG>caA	p.Q846Q	KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.Q304Q	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	846					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GAACCCCCCAGCGTGGggatg	0.652																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2536-2538)caG>caA		lysine (K)-specific demethylase 2A							19.0	21.0	20.0					11																	67018039		1965	4145	6110	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018039G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2538G>A	11.37:g.67018039G>A						KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000308783.5_Silent_p.Q304Q|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron	p.Q846Q	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	2984	+			846					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.2538G>A	CCDS44657.1																																																																																				0.652	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		35	153	0	0	0	1	0	35	153				
C1QBP	708	broad.mit.edu	37	17	5336648	5336648	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5336648T>C	ENST00000225698.4	-	5	745	c.664A>G	c.(664-666)Act>Gct	p.T222A	CTC-524C5.2_ENST00000575890.1_RNA|C1QBP_ENST00000574444.1_Missense_Mutation_p.T118A	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	222					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	GTATAATTAGTATCCTTCCAT	0.478																																						ENST00000225698.4																			0				lung(2)|ovary(1)	3						c.(664-666)Act>Gct		complement component 1, q subcomponent binding protein							104.0	101.0	102.0					17																	5336648		2203	4300	6503	SO:0001583	missense	708				blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane		g.chr17:5336648T>C	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.664A>G	17.37:g.5336648T>C	ENSP00000225698:p.Thr222Ala					C1QBP_ENST00000574444.1_Missense_Mutation_p.T118A	p.T222A	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN			5	745	-			222					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.664A>G	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158060	0.57368	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	.	0.047581	0.85682	D	0.000000	T	0.60483	0.2272	L	0.59436	1.845	0.53688	D	0.999971	B	0.29232	0.238	B	0.31245	0.126	T	0.62732	-0.6792	9	0.54805	T	0.06	-8.1776	14.2178	0.65805	0.0:0.0:0.0:1.0	.	222	Q07021	C1QBP_HUMAN	A	222	.	ENSP00000225698:T222A	T	-	1	0	C1QBP	5277372	1.000000	0.71417	0.987000	0.45799	0.886000	0.51366	7.741000	0.84997	2.144000	0.66660	0.533000	0.62120	ACT		0.478	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		103	428	0	0	0	1	0	103	428				
SLC26A3	1811	broad.mit.edu	37	7	107416898	107416898	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416898G>T	ENST00000340010.5	-	15	1860	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	SLC26A3_ENST00000422236.2_Splice_Site_p.A524D	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	559	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.A559V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAACCTTACAGCATCGATAAG	0.383																																						ENST00000340010.5																			1	Substitution - Missense(1)	p.A559V(1)	central_nervous_system(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.e15+1		solute carrier family 26 (anion exchanger), member 3							104.0	101.0	102.0					7																	107416898		2203	4300	6503	SO:0001630	splice_region_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107416898G>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1677+1C>A	7.37:g.107416898G>T						SLC26A3_ENST00000422236.2_Splice_Site_p.A524_splice	p.A559_splice	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			15	1860	-			559			STAS.			Splice_Site	SNP	ENST00000340010.5	37	c.1677_splice	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938086	0.73557	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.89123	-2.47;-2.47	5.98	5.11	0.69529	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.255061	0.44902	D	0.000418	D	0.90800	0.7111	M	0.79475	2.455	0.80722	D	1	P;P	0.50443	0.935;0.919	P;P	0.49953	0.627;0.616	D	0.89021	0.3435	10	0.17832	T	0.49	.	15.0089	0.71533	0.0679:0.0:0.9321:0.0	.	524;559	G5E9U3;P40879	.;S26A3_HUMAN	D	524;559	ENSP00000415817:A524D;ENSP00000345873:A559D	ENSP00000345873:A559D	A	-	2	0	SLC26A3	107204134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.402000	0.79972	1.550000	0.49438	0.591000	0.81541	GCT		0.383	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	Missense_Mutation	45	257	1	0	1.76056e-25	1	2.02043e-25	45	257				
NUP160	23279	broad.mit.edu	37	11	47830003	47830003	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47830003A>G	ENST00000378460.2	-	18	2366	c.2320T>C	c.(2320-2322)Tac>Cac	p.Y774H	NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H|NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	774					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTAATGAGGTAATAAGATAAG	0.403																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(2320-2322)Tac>Cac		nucleoporin 160kDa							105.0	94.0	98.0					11																	47830003		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47830003A>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2320T>C	11.37:g.47830003A>G	ENSP00000367721:p.Tyr774His					NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H|NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H	p.Y774H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			18	2366	-			774					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.2320T>C	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543547	0.45280	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.51071	1.31;0.74;0.72	5.93	1.11	0.20524	.	0.683244	0.15228	N	0.273568	T	0.29028	0.0721	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06752	-1.0809	10	0.17832	T	0.49	.	9.0481	0.36358	0.7124:0.0:0.2876:0.0	.	774	Q12769	NU160_HUMAN	H	774;660;660	ENSP00000367721:Y774H;ENSP00000433590:Y660H;ENSP00000432367:Y660H	ENSP00000367721:Y774H	Y	-	1	0	NUP160	47786579	0.971000	0.33674	0.663000	0.29738	0.978000	0.69477	2.055000	0.41345	-0.051000	0.13334	0.528000	0.53228	TAC		0.403	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		55	260	0	0	0	1	0	55	260				
MKRN3	7681	broad.mit.edu	37	15	23812378	23812378	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23812378T>C	ENST00000314520.3	+	1	1925	c.1449T>C	c.(1447-1449)gaT>gaC	p.D483D	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	483					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CACTGAGAGATGAGTTACCCT	0.458																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1447-1449)gaT>gaC		makorin ring finger protein 3							158.0	149.0	152.0					15																	23812378		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812378T>C	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1449T>C	15.37:g.23812378T>C						MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron	p.D483D	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1925	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	483						Silent	SNP	ENST00000314520.3	37	c.1449T>C	CCDS10013.1																																																																																				0.458	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		130	611	0	0	0	1	0	130	611				
GPNMB	10457	broad.mit.edu	37	7	23300346	23300346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23300346G>A	ENST00000381990.2	+	6	1133	c.972G>A	c.(970-972)ccG>ccA	p.P324P	GPNMB_ENST00000258733.4_Silent_p.P324P|GPNMB_ENST00000453162.2_Silent_p.P266P|GPNMB_ENST00000539136.1_Silent_p.P225P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	324	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.|Poly-Pro.		P -> L (in dbSNP:rs35363287).		bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GACCTTGTCCGCCACCGCCAC	0.483																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(970-972)ccG>ccA		glycoprotein (transmembrane) nmb							121.0	129.0	126.0					7																	23300346		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23300346G>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.972G>A	7.37:g.23300346G>A						GPNMB_ENST00000381990.2_Silent_p.P324P|GPNMB_ENST00000539136.1_Silent_p.P225P|GPNMB_ENST00000453162.2_Silent_p.P266P	p.P324P			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		6	1267	+			324		P -> L (in dbSNP:rs35363287).	PKD.|Poly-Pro.		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.972G>A	CCDS34610.1																																																																																				0.483	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		15	754	0	0	0	1	0	15	754				
ADNP	23394	broad.mit.edu	37	20	49509662	49509662	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49509662T>C	ENST00000396029.3	-	5	2156	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	ADNP_ENST00000371602.4_Missense_Mutation_p.H530R|ADNP_ENST00000349014.3_Missense_Mutation_p.H530R|ADNP_ENST00000396032.3_Missense_Mutation_p.H530R	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	530					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATCCGCATGTGTGCGGCCAT	0.408																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(1588-1590)cAc>cGc		activity-dependent neuroprotector homeobox							149.0	142.0	144.0					20																	49509662		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509662T>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1589A>G	20.37:g.49509662T>C	ENSP00000379346:p.His530Arg					ADNP_ENST00000396032.3_Missense_Mutation_p.H530R|ADNP_ENST00000371602.4_Missense_Mutation_p.H530R|ADNP_ENST00000349014.3_Missense_Mutation_p.H530R	p.H530R	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	2156	-			530					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.1589A>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849202	0.51270	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	L	0.49126	1.545	0.52099	D	0.999945	D	0.71674	0.998	D	0.73708	0.981	T	0.72134	-0.4382	9	0.87932	D	0	-0.8131	13.4865	0.61369	0.0:0.0:0.1306:0.8694	.	530	Q9H2P0	ADNP_HUMAN	R	530	.	ENSP00000342905:H530R	H	-	2	0	ADNP	48943069	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.965000	0.70387	1.084000	0.41184	0.528000	0.53228	CAC		0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		148	611	0	0	0	1	0	148	611				
CCDC144A	9720	broad.mit.edu	37	17	16593733	16593733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16593733G>T	ENST00000360524.8	+	1	95	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E7*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E7*|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	7																	CTGGGGTGGAGAAAAGCGGGG	0.647																																						ENST00000443444.2																			0											c.(19-21)Gaa>Taa		coiled-coil domain containing 144A							11.0	14.0	13.0					17																	16593733		2193	4288	6481	SO:0001587	stop_gained	9720							g.chr17:16593733G>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.19G>T	17.37:g.16593733G>T	ENSP00000353717:p.Glu7*					RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E7*	p.E7*			A2RUR9	C144A_HUMAN			1	159	+			7					O60311|Q6ZU57	Nonsense_Mutation	SNP	ENST00000360524.8	37	c.19G>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.201266	0.58234	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	.	.	.	0.542	-0.614	0.11590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	.	.	.	.	.	.	.	X	7	.	ENSP00000344740:E7X	E	+	1	0	CCDC144A	16534458	0.316000	0.24580	0.001000	0.08648	0.041000	0.13682	0.199000	0.17237	-0.291000	0.09012	0.398000	0.26397	GAA		0.647	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			20	80	1	0	1.10513e-12	1	1.18868e-12	20	80				
SBF1	6305	broad.mit.edu	37	22	50905844	50905844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50905844C>A	ENST00000390679.3	-	5	656	c.472G>T	c.(472-474)Gag>Tag	p.E158*	SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*|SBF1_ENST00000380817.3_Nonsense_Mutation_p.E158*			O95248	MTMR5_HUMAN	SET binding factor 1	158	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTCAGGCCCTCCACGTGGATG	0.627																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(472-474)Gag>Tag		SET binding factor 1							95.0	103.0	100.0					22																	50905844		2160	4245	6405	SO:0001587	stop_gained	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50905844C>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.472G>T	22.37:g.50905844C>A	ENSP00000375097:p.Glu158*					SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*|SBF1_ENST00000390679.3_Nonsense_Mutation_p.E158*	p.E158*	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	5	655	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	158			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Nonsense_Mutation	SNP	ENST00000390679.3	37	c.472G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.469269	0.98302	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	.	.	.	4.75	4.75	0.60458	.	0.570441	0.17223	N	0.182256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3763	0.55281	0.0:0.9154:0.0:0.0846	.	.	.	.	X	158;159;169;168;158	.	ENSP00000336522:E168X	E	-	1	0	SBF1	49252710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.532000	0.67154	2.467000	0.83353	0.561000	0.74099	GAG		0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding				139	519	1	0	2.87455e-64	1	3.63151e-64	139	519				
JAM2	58494	broad.mit.edu	37	21	27071173	27071173	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27071173T>C	ENST00000480456.1	+	5	1129	c.579T>C	c.(577-579)aaT>aaC	p.N193N	JAM2_ENST00000312957.5_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N|JAM2_ENST00000400532.1_Silent_p.N193N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	193	Ig-like C2-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACACAATGAATACAAAAACTG	0.373																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(577-579)aaT>aaC		junctional adhesion molecule 2							110.0	102.0	104.0					21																	27071173		1878	4104	5982	SO:0001819	synonymous_variant	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27071173T>C	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.579T>C	21.37:g.27071173T>C						JAM2_ENST00000312957.5_Silent_p.N193N|JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N	p.N193N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			5	1129	+			193			Ig-like C2-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Silent	SNP	ENST00000480456.1	37	c.579T>C	CCDS42911.1																																																																																				0.373	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			92	404	0	0	0	1	0	92	404				
AGRN	375790	broad.mit.edu	37	1	989173	989173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989173C>T	ENST00000379370.2	+	34	5742	c.5692C>T	c.(5692-5694)Cgc>Tgc	p.R1898C	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1920	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACTGAGCCTGCGCACTGAGGC	0.642																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5692-5694)Cgc>Tgc		agrin							35.0	30.0	32.0					1																	989173		2202	4296	6498	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:989173C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5692C>T	1.37:g.989173C>T	ENSP00000368678:p.Arg1898Cys						p.R1898C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	34	5742	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1898			Laminin G-like 3.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5692C>T	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.013379|2.013379	0.35511|0.35511	.|.	.|.	ENSG00000188157|ENSG00000188157	ENST00000419249|ENST00000379370;ENST00000379364	.|D	.|0.84516	.|-1.86	3.95|3.95	3.0|3.0	0.34707|0.34707	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.|0.207151	.|0.27008	.|N	.|0.021390	D|D	0.90837|0.90837	0.7122|0.7122	M|M	0.86268|0.86268	2.805|2.805	0.53688|0.53688	D|D	0.999971|0.999971	.|D	.|0.89917	.|1.0	.|D	.|0.70935	.|0.971	D|D	0.89568|0.89568	0.3811|0.3811	5|10	.|0.87932	.|D	.|0	-29.3102|-29.3102	6.6032|6.6032	0.22712|0.22712	0.3673:0.4808:0.1519:0.0|0.3673:0.4808:0.1519:0.0	.|.	.|1898	.|O00468	.|AGRIN_HUMAN	V|C	219|1898;260	.|ENSP00000368678:R1898C	.|ENSP00000368671:R260C	A|R	+|+	2|1	0|0	AGRN|AGRN	979036|979036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.307000|0.307000	0.27823|0.27823	3.690000|3.690000	0.54713|0.54713	0.831000|0.831000	0.34780|0.34780	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.642	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		7	66	0	0	0	1	0	7	66				
OSTCP1	202459	broad.mit.edu	37	6	159263024	159263024	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159263024C>T	ENST00000522287.1	-	0	319					NR_028496.1				oligosaccharyltransferase complex subunit pseudogene 1																		AGTCATAGAGCCAATGCTTGG	0.453																																						ENST00000522287.1																			0																				108.0	98.0	102.0					6																	159263024		2203	4300	6503			0							g.chr6:159263024C>T	BC024224		6q25.3	2011-09-02	2011-09-02	2011-09-02	ENSG00000243775	ENSG00000243775			30530	pseudogene	pseudogene	"""DC2 protein-like"""		"""oligosaccharyltransferase complex subunit-like"""	OSTCL		12477932	Standard	NR_028496		Approved	DC2L	uc003qrw.4		OTTHUMG00000015919		6.37:g.159263024C>T								NR_028496.1						0	319	-									RNA	SNP	ENST00000522287.1	37																																																																																						0.453	OSTCP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042884.2	NM_145303		68	356	0	0	0	1	0	68	356				
KRT7	3855	broad.mit.edu	37	12	52627084	52627084	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52627084T>C	ENST00000331817.5	+	1	187	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	2	Head.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	AGCCACCATGTCCATCCACTT	0.731																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(4-6)Tcc>Ccc		keratin 7							15.0	16.0	16.0					12																	52627084		2199	4293	6492	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627084T>C		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.4T>C	12.37:g.52627084T>C	ENSP00000329243:p.Ser2Pro						p.S2P	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	187	+			2			Head.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.4T>C	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247250	0.59103	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.83673	-1.75	4.37	4.37	0.52481	.	.	.	.	.	D	0.86414	0.5927	M	0.67700	2.07	0.34535	D	0.709599	D;D	0.57571	0.98;0.966	P;P	0.56700	0.804;0.641	D	0.90410	0.4409	9	0.87932	D	0	.	9.5221	0.39143	0.0:0.0:0.1774:0.8226	.	2;2	F8VZY5;P08729	.;K2C7_HUMAN	P	2	ENSP00000329243:S2P	ENSP00000329243:S2P	S	+	1	0	KRT7	50913351	0.997000	0.39634	0.991000	0.47740	0.050000	0.14768	1.075000	0.30716	1.977000	0.57605	0.375000	0.23000	TCC		0.731	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		22	102	0	0	0	1	0	22	102				
TNFRSF12A	51330	broad.mit.edu	37	16	3071282	3071282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3071282C>T	ENST00000326577.4	+	2	247	c.161C>T	c.(160-162)tCt>tTt	p.S54F	THOC6_ENST00000326266.8_5'Flank|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F|THOC6_ENST00000253952.9_5'Flank|CLDN6_ENST00000396925.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000574549.1_5'Flank|TNFRSF12A_ENST00000575124.1_Intron|TNFRSF12A_ENST00000341627.5_Intron	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	54					angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						GACTGCGCGTCTTGCAGGGCG	0.736																																						ENST00000326577.4																			0				lung(1)|skin(1)	2						c.(160-162)tCt>tTt		tumor necrosis factor receptor superfamily, member 12A							13.0	15.0	14.0					16																	3071282		2182	4281	6463	SO:0001583	missense	0				angiogenesis|apoptosis	integral to membrane	receptor activity	g.chr16:3071282C>T	AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.161C>T	16.37:g.3071282C>T	ENSP00000326737:p.Ser54Phe					TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F|TNFRSF12A_ENST00000575124.1_Intron|TNFRSF12A_ENST00000341627.5_Intron	p.S54F	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN			2	247	+			54					D3DUA6|Q9HCS0	Missense_Mutation	SNP	ENST00000326577.4	37	c.161C>T	CCDS10489.1	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050320	0.19827	.	.	ENSG00000006327	ENST00000326577	.	.	.	4.76	3.81	0.43845	.	.	.	.	.	T	0.44286	0.1286	L	0.27053	0.805	0.80722	D	1	P	0.44946	0.846	P	0.46850	0.529	T	0.37291	-0.9712	8	0.54805	T	0.06	-7.165	9.1036	0.36685	0.0:0.8976:0.0:0.1024	.	54	Q9NP84	TNR12_HUMAN	F	54	.	ENSP00000326737:S54F	S	+	2	0	TNFRSF12A	3011283	0.707000	0.27866	0.682000	0.30024	0.219000	0.24729	2.992000	0.49417	1.003000	0.39130	0.561000	0.74099	TCT		0.736	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250990.1			24	97	0	0	0	1	0	24	97				
CREB3L1	90993	broad.mit.edu	37	11	46342045	46342045	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46342045G>A	ENST00000529193.1	+	11	1940	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	497					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CACCAGCCCCGACTTCTCCCA	0.632			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(1489-1491)Gac>Aac		cAMP responsive element binding protein 3-like 1							26.0	33.0	31.0					11																	46342045		2091	4177	6268	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46342045G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1489G>A	11.37:g.46342045G>A	ENSP00000434939:p.Asp497Asn					CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N	p.D497N			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	11	1940	+			497					Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.1489G>A	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400389	0.25291	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.63417	-0.04;-0.04	4.69	0.622	0.17648	.	0.410430	0.21415	N	0.074914	T	0.46092	0.1375	L	0.36672	1.1	0.21861	N	0.999502	B;B	0.18863	0.031;0.002	B;B	0.13407	0.009;0.001	T	0.26360	-1.0105	10	0.30854	T	0.27	5.5209	8.3401	0.32239	0.4625:0.0:0.5375:0.0	.	409;497	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	N	497;497;409	ENSP00000434939:D497N;ENSP00000288400:D497N	ENSP00000288400:D497N	D	+	1	0	CREB3L1	46298621	0.999000	0.42202	0.933000	0.37362	0.944000	0.59088	2.068000	0.41471	-0.156000	0.11079	0.430000	0.28490	GAC		0.632	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		14	54	0	0	0	1	0	14	54				
DNAH17	8632	broad.mit.edu	37	17	76482324	76482324	+	Silent	SNP	G	G	T	rs141022219		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76482324G>T	ENST00000585328.1	-	45	7192	c.7068C>A	c.(7066-7068)ggC>ggA	p.G2356G	RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Silent_p.G2347G|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2347					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAACATGGCGCCACCGAAGG	0.622																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(7039-7041)ggC>ggA		dynein, axonemal, heavy chain 17							35.0	39.0	38.0					17																	76482324		2005	4149	6154	SO:0001819	synonymous_variant	8632							g.chr17:76482324G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7068C>A	17.37:g.76482324G>T						RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.G2356G|DNAH17_ENST00000586052.1_5'UTR	p.G2347G					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		45	7165	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.7041C>A																																																																																					0.622	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		39	184	1	0	1.60099e-16	1	1.75945e-16	39	184				
PCDHA2	56146	broad.mit.edu	37	5	140176734	140176734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176734G>A	ENST00000526136.1	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E729K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	729					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACCCACCGAGGGTGCGCG	0.662																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2185-2187)Gag>Aag									56.0	57.0	57.0					5																	140176734		2203	4299	6502	SO:0001583	missense	0							g.chr5:140176734G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2185G>A	5.37:g.140176734G>A	ENSP00000431748:p.Glu729Lys					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K	p.E729K	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2185	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2185G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	6.745	0.506288	0.12883	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.13657	2.57;2.57;2.57	2.91	1.05	0.20165	.	1.627180	0.04542	U	0.388267	T	0.24736	0.0600	M	0.89601	3.045	0.09310	N	1	B;B;B	0.24368	0.102;0.064;0.1	B;B;B	0.23852	0.049;0.024;0.046	T	0.36335	-0.9752	10	0.54805	T	0.06	.	5.3552	0.16057	0.4654:0.0:0.5346:0.0	.	729;729;729	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	729	ENSP00000430584:E729K;ENSP00000367372:E729K;ENSP00000431748:E729K	ENSP00000367372:E729K	E	+	1	0	PCDHA2	140156918	0.051000	0.20477	0.128000	0.21923	0.009000	0.06853	0.980000	0.29513	0.262000	0.21774	0.585000	0.79938	GAG		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		135	541	0	0	0	1	0	135	541				
CFAP221	200373	broad.mit.edu	37	2	120362359	120362359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120362359G>T	ENST00000413369.3	+	9	990	c.903G>T	c.(901-903)caG>caT	p.Q301H	PCDP1_ENST00000602047.1_Missense_Mutation_p.Q15H|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CGAAGCCTCAGAAGGTGAAGG	0.453																																						ENST00000602047.1																			0											c.(43-45)caG>caT									67.0	73.0	71.0					2																	120362359		2203	4300	6503	SO:0001583	missense	0					cilium	calmodulin binding	g.chr2:120362359G>T																												ENST00000413369.3:c.903G>T	2.37:g.120362359G>T	ENSP00000393222:p.Gln301His					PCDP1_ENST00000413369.3_Missense_Mutation_p.Q301H|PCDP1_ENST00000597189.1_3'UTR	p.Q15H			Q4G0U5	PCDP1_HUMAN			10	1157	+	Colorectal(110;0.196)		301						Missense_Mutation	SNP	ENST00000413369.3	37	c.45G>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436252	0.25813	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20200	2.09	5.41	-1.3	0.09259	.	0.785958	0.11282	N	0.580161	T	0.13329	0.0323	L	0.34521	1.04	0.09310	N	1	B;B	0.20261	0.043;0.032	B;B	0.20955	0.032;0.013	T	0.27123	-1.0083	10	0.45353	T	0.12	-0.0024	4.6372	0.12530	0.4275:0.3016:0.2709:0.0	.	145;301	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	H	15;301	ENSP00000393222:Q301H	ENSP00000295220:Q15H	Q	+	3	2	AC069154.2	120078829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.360000	0.08138	-0.302000	0.09304	CAG		0.453	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			115	275	1	0	8.29381e-57	1	1.03815e-56	115	275				
P2RY11	5032	broad.mit.edu	37	19	10225213	10225213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225213C>T	ENST00000321826.4	+	2	1108	c.924C>T	c.(922-924)ggC>ggT	p.G308G	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.G728G|PPAN_ENST00000556468.1_Silent_p.G728G	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	308					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGATGCGGGGCCTCATGCCCC	0.687																																						ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(2182-2184)ggC>ggT		peter pan homolog (Drosophila)							42.0	47.0	45.0					19																	10225213		2203	4300	6503	SO:0001819	synonymous_variant	56342							g.chr19:10225213C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.924C>T	19.37:g.10225213C>T						PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Silent_p.G308G|PPAN-P2RY11_ENST00000393796.4_Silent_p.G728G	p.G728G					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2211	+								B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.2184C>T	CCDS12226.1																																																																																				0.687	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		68	351	0	0	0	1	0	68	351				
C19orf18	147685	broad.mit.edu	37	19	58477896	58477896	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58477896A>G	ENST00000314391.3	-	4	473		c.e4+1			NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GCAGATACTTACTATATCATA	0.338																																						ENST00000314391.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.e4+1		chromosome 19 open reading frame 18							59.0	60.0	60.0					19																	58477896		2203	4300	6503	SO:0001630	splice_region_variant	147685					integral to membrane		g.chr19:58477896A>G	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.371+1T>C	19.37:g.58477896A>G								NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	4	473	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)							Splice_Site	SNP	ENST00000314391.3	37		CCDS12967.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851034	0.51270	.	.	ENSG00000177025	ENST00000314391	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8207	0.40880	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf18	63169708	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.327000	0.52045	2.078000	0.62432	0.524000	0.50904	.		0.338	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	Intron	21	111	0	0	0	1	0	21	111				
WDR90	197335	broad.mit.edu	37	16	701862	701862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:701862G>A	ENST00000293879.4	+	9	876	c.876G>A	c.(874-876)ccG>ccA	p.P292P	WDR90_ENST00000549091.1_Silent_p.P292P|AL022341.3_ENST00000455294.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	292										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCTTCCCGGAGGTCAGCC	0.682																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(874-876)ccG>ccA		WD repeat domain 90							22.0	28.0	26.0					16																	701862		2097	4227	6324	SO:0001819	synonymous_variant	197335							g.chr16:701862G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.876G>A	16.37:g.701862G>A						WDR90_ENST00000293879.4_Silent_p.P292P	p.P292P	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			9	968	+		Hepatocellular(780;0.0218)	292					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.876G>A	CCDS42092.1																																																																																				0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		41	202	0	0	0	1	0	41	202				
FNTA	2339	broad.mit.edu	37	8	42940355	42940355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42940355G>A	ENST00000302279.3	+	9	1264	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	FNTA_ENST00000529687.1_Missense_Mutation_p.R206K|FNTA_ENST00000342116.4_Missense_Mutation_p.R290K	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	357					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GAATATTGGAGATACATTGGA	0.318																																						ENST00000529687.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(616-618)aGa>aAa		farnesyltransferase, CAAX box, alpha							84.0	73.0	77.0					8																	42940355		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42940355G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.1070G>A	8.37:g.42940355G>A	ENSP00000303423:p.Arg357Lys					FNTA_ENST00000342116.4_Missense_Mutation_p.R290K|FNTA_ENST00000302279.3_Missense_Mutation_p.R357K	p.R206K			P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		9	1505	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	357					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.617G>A	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647865	0.29336	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	5.7	0.88788	Protein prenyltransferase (1);	0.232665	0.46442	D	0.000291	T	0.50633	0.1627	L	0.29908	0.895	0.40310	D	0.978701	B;B;B	0.17465	0.022;0.0;0.001	B;B;B	0.13407	0.009;0.001;0.004	T	0.45041	-0.9288	9	0.15499	T	0.54	-12.7797	17.3299	0.87259	0.0:0.0:1.0:0.0	.	290;266;357	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	K	357;290	.	ENSP00000303423:R357K	R	+	2	0	FNTA	43059512	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.917000	0.48821	2.703000	0.92315	0.650000	0.86243	AGA		0.318	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		39	198	0	0	0	1	0	39	198				
HGSNAT	138050	broad.mit.edu	37	8	43033296	43033296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43033296C>T	ENST00000458501.2	+	10	1015	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000379644.4_Silent_p.L311L|HGSNAT_ENST00000297798.7_5'Flank			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	339					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTCAGATTGCTGGGGAAGAT	0.363																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(1015-1017)Ctg>Ttg		heparan-alpha-glucosaminide N-acetyltransferase							204.0	196.0	199.0					8																	43033296		1830	4079	5909	SO:0001819	synonymous_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43033296C>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1015C>T	8.37:g.43033296C>T						HGSNAT_ENST00000379644.4_Silent_p.L311L	p.L339L			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		10	1015	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	339					B4E2V0	Silent	SNP	ENST00000458501.2	37	c.1015C>T		.	.	.	.	.	.	.	.	.	.	C	8.619	0.890869	0.17613	.	.	ENSG00000165102	ENST00000524016	.	.	.	5.68	1.82	0.25136	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39482	-0.9612	4	.	.	.	-2.0712	5.6173	0.17438	0.2789:0.57:0.0:0.1511	.	.	.	.	V	12	.	.	A	+	2	0	HGSNAT	43152453	1.000000	0.71417	0.531000	0.27976	0.919000	0.55068	1.133000	0.31430	0.057000	0.16193	-0.142000	0.14014	GCT		0.363	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		127	598	0	0	0	1	0	127	598				
AKT1	207	broad.mit.edu	37	14	105242041	105242041	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105242041T>C	ENST00000554581.1	-	4	1863	c.383A>G	c.(382-384)aAc>aGc	p.N128S	AKT1_ENST00000402615.2_Missense_Mutation_p.N128S|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.N66S|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S|AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	128					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCCTGAGTTGTCACTGGG	0.637		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(382-384)aAc>aGc		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						146.0	109.0	121.0					14																	105242041		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242041T>C	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.383A>G	14.37:g.105242041T>C	ENSP00000451828:p.Asn128Ser					AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000402615.2_Missense_Mutation_p.N128S|AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S|AKT1_ENST00000544168.1_Missense_Mutation_p.N66S	p.N128S			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	1863	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	128					B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.383A>G	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	T	8.764	0.924363	0.18056	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000007	T	0.18635	0.0447	N	0.04508	-0.205	0.41335	D	0.987261	B	0.02656	0.0	B	0.04013	0.001	T	0.09684	-1.0663	10	0.06494	T	0.89	.	12.8618	0.57918	0.0:0.0:0.0:1.0	.	128	P31749	AKT1_HUMAN	S	128;128;128;128;128;66;128;66	ENSP00000451828:N128S;ENSP00000384293:N128S;ENSP00000270202:N128S;ENSP00000385326:N128S;ENSP00000450688:N128S;ENSP00000443897:N66S;ENSP00000451166:N128S;ENSP00000451290:N66S	ENSP00000270202:N128S	N	-	2	0	AKT1	104313086	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.828000	0.27435	1.626000	0.50381	0.368000	0.22195	AAC		0.637	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		15	405	0	0	0	1	0	15	405				
PDE4DIP	9659	broad.mit.edu	37	1	144892214	144892214	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144892214C>A	ENST00000369354.3	-	22	3094				PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_3'UTR|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Nonstop_Mutation_p.*1133Y|PDE4DIP_ENST00000369349.3_Nonstop_Mutation_p.*970Y|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000524974.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTGAAGCTATAGCTACA	0.458			T	PDGFRB	MPD																																	ENST00000313431.9				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3397-3399)taG>taT		phosphodiesterase 4D interacting protein							65.0	68.0	67.0					1																	144892214		2203	4296	6499	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144892214C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2904+286G>T	1.37:g.144892214C>A						PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369349.3_Nonstop_Mutation_p.*970Y|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_3'UTR	p.*1133Y	NM_001002811.1	NP_001002811.1	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	19	4055	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonstop_Mutation	SNP	ENST00000369354.3	37	c.3399G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974429	0.53720	.	.	ENSG00000178104	ENST00000369349;ENST00000313431	.	.	.	4.85	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7107	0.34382	0.0:0.8979:0.0:0.1021	.	.	.	.	Y	970;1133	.	.	X	-	3	2	PDE4DIP	143603571	1.000000	0.71417	0.996000	0.52242	0.801000	0.45260	0.951000	0.29135	1.284000	0.44531	0.650000	0.86243	TAG		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		19	146	1	0	9.57634e-11	1	1.01752e-10	19	146				
NR1I3	9970	broad.mit.edu	37	1	161201197	161201197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161201197G>A	ENST00000367982.4	-	6	771	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000367983.4_Missense_Mutation_p.L206F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F|NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	206					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGGTATTGAGTACGATGTGA	0.483																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(616-618)Ctc>Ttc		nuclear receptor subfamily 1, group I, member 3							142.0	136.0	138.0					1																	161201197		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161201197G>A	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.616C>T	1.37:g.161201197G>A	ENSP00000356961:p.Leu206Phe					NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367982.4_Missense_Mutation_p.L206F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F	p.L206F			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	910	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		206					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.616C>T	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.277226	0.01410	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.73	2.7	0.31948	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.213818	0.49305	N	0.000146	D	0.91848	0.7420	N	0.21508	0.67	0.36247	D	0.853640	B;B;D;B;P;B;P;B;D;B;B;B;D;B;B;P;P;D	0.89917	0.107;0.075;1.0;0.01;0.462;0.01;0.752;0.019;1.0;0.12;0.082;0.101;1.0;0.019;0.143;0.572;0.758;1.0	B;B;D;B;B;B;B;B;D;B;B;B;D;B;B;B;B;D	0.97110	0.103;0.055;1.0;0.016;0.115;0.011;0.333;0.033;1.0;0.161;0.048;0.048;1.0;0.033;0.035;0.186;0.285;0.999	D	0.88290	0.2942	9	0.16420	T	0.52	.	11.6402	0.51228	0.0:0.0:0.5307:0.4693	.	206;177;177;206;206;206;206;206;206;206;131;177;177;177;177;177;177;206	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	F	177;206;206;177;206;177;206;206;177;206;177;177;177;131;206;206;206;177;206	ENSP00000425417:L177F;ENSP00000356962:L206F;ENSP00000356959:L206F;ENSP00000407446:L177F;ENSP00000406493:L206F;ENSP00000399361:L177F;ENSP00000412672:L206F;ENSP00000424934:L206F;ENSP00000423666:L177F;ENSP00000356961:L206F;ENSP00000424345:L177F;ENSP00000427175:L177F;ENSP00000356960:L177F;ENSP00000421588:L131F;ENSP00000356963:L206F;ENSP00000356965:L206F;ENSP00000356958:L206F;ENSP00000423089:L177F;ENSP00000427034:L206F	ENSP00000356958:L206F	L	-	1	0	NR1I3	159467821	0.996000	0.38824	0.276000	0.24689	0.457000	0.32468	2.861000	0.48380	0.282000	0.22254	-0.293000	0.09583	CTC		0.483	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			143	399	0	0	0	1	0	143	399				
RNFT2	84900	broad.mit.edu	37	12	117187661	117187661	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117187661G>A	ENST00000257575.4	+	4	332	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RNFT2_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000407967.3_Silent_p.A33A|RNFT2_ENST00000319176.7_Silent_p.A33A			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	33						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCAGCCAGGCGCTCAGCTCCG	0.582																																						ENST00000257575.4																			0				endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6						c.(97-99)gcG>gcA		ring finger protein, transmembrane 2							12.0	17.0	15.0					12																	117187661		2059	4209	6268	SO:0001819	synonymous_variant	84900					integral to membrane	zinc ion binding	g.chr12:117187661G>A	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.99G>A	12.37:g.117187661G>A						RNFT2_ENST00000319176.7_Silent_p.A33A|RNFT2_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000407967.3_Silent_p.A33A	p.A33A			Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	4	332	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		33					E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	c.99G>A	CCDS44987.1																																																																																				0.582	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		6	26	0	0	0	1	0	6	26				
NUTM2A	728118	broad.mit.edu	37	10	88988216	88988216	+	Silent	SNP	C	C	T	rs372485168	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88988216C>T	ENST00000381707.2	+	2	962	c.579C>T	c.(577-579)tgC>tgT	p.C193C	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Silent_p.C193C	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	193																	AGGATGGCTGCGGCCCGAGTG	0.657													.|||	3	0.000599042	0.0	0.0014	5008	,	,		23551	0.0		0.002	False		,,,				2504	0.0					ENST00000381689.4																			0											c.(577-579)tgC>tgT		NUT family member 2A		C		0,3644		0,0,1822	36.0	43.0	41.0		579	-2.6	0.0	10		41	2,8126		0,2,4062	no	coding-synonymous	FAM22A	NM_001099338.1		0,2,5884	TT,TC,CC		0.0246,0.0,0.017		193/879	88988216	2,11770	1822	4064	5886	SO:0001819	synonymous_variant	728118							g.chr10:88988216C>T		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.579C>T	10.37:g.88988216C>T						NUTM2A_ENST00000381707.2_Silent_p.C193C|NUTM2A-AS1_ENST00000451940.2_RNA	p.C193C							2	910	+								A6NMX5|C9JDI1|Q5VZW1	Silent	SNP	ENST00000381707.2	37	c.579C>T	CCDS44452.1																																																																																				0.657	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		53	651	0	0	0	1	0	53	651				
NPAS2	4862	broad.mit.edu	37	2	101587499	101587499	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101587499A>G	ENST00000335681.5	+	12	1388	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	368					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTGGAAGACCCGCCATCC	0.557																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1102-1104)gAc>gGc		neuronal PAS domain protein 2							92.0	89.0	90.0					2																	101587499		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101587499A>G	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1103A>G	2.37:g.101587499A>G	ENSP00000338283:p.Asp368Gly					NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G	p.D368G	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			12	1388	+			368					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1103A>G	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468956	0.84533	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05447	3.46;3.44	5.85	4.63	0.57726	.	0.146336	0.64402	D	0.000013	T	0.11452	0.0279	L	0.59436	1.845	0.46298	D	0.998977	P;P	0.48640	0.913;0.858	P;B	0.47044	0.535;0.334	T	0.01108	-1.1449	10	0.54805	T	0.06	.	11.9491	0.52944	0.87:0.0:0.0:0.13	.	433;368	F5H027;Q99743	.;NPAS2_HUMAN	G	368;433	ENSP00000338283:D368G;ENSP00000438428:D433G	ENSP00000338283:D368G	D	+	2	0	NPAS2	100953931	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.884000	0.63135	2.233000	0.73108	0.533000	0.62120	GAC		0.557	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			110	312	0	0	0	1	0	110	312				
CADM1	23705	broad.mit.edu	37	11	115049448	115049448	+	Missense_Mutation	SNP	C	C	T	rs145171991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115049448C>T	ENST00000452722.3	-	9	1146	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.V387M|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000542447.2_Missense_Mutation_p.V348M	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCACCGATCACGGCATGATCC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.001					ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1042-1044)Gtg>Atg		cell adhesion molecule 1		C	MET/VAL,MET/VAL	0,4402		0,0,2201	129.0	111.0	117.0		1042,1126	5.0	1.0	11	dbSNP_134	117	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CADM1	NM_001098517.1,NM_014333.3	21,21	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	348/415,376/443	115049448	1,12993	2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115049448C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1126G>A	11.37:g.115049448C>T	ENSP00000395359:p.Val376Met					CADM1_ENST00000452722.2_Missense_Mutation_p.V376M|CADM1_ENST00000537058.1_Missense_Mutation_p.V387M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M	p.V348M	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1170	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	376	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Missense_Mutation	SNP	ENST00000452722.3	37	c.1042G>A	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589329|3.589329	0.66105|0.66105	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.|T;T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02;0.02	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.79627|0.79627	0.4478|0.4478	M|M	0.79926|0.79926	2.475|2.475	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;0.998;0.999;0.994	.|D;P;D;P	.|0.69654	.|0.935;0.819;0.965;0.67	T|T	0.79157|0.79157	-0.1919|-0.1919	5|10	.|0.38643	.|T	.|0.18	.|.	18.4828|18.4828	0.90818|0.90818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|387;349;376;348	.|F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;CADM1_HUMAN;.	H|M	346|348;376;387;377;307;405;61	.|ENSP00000439176:V348M;ENSP00000395359:V376M;ENSP00000439817:V387M;ENSP00000440322:V377M;ENSP00000329797:V405M	.|ENSP00000329797:V405M	R|V	-|-	2|1	0|0	CADM1|CADM1	114554658|114554658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.448000|4.448000	0.60027|0.60027	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.512	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		107	537	0	0	0	1	0	107	537				
ANKRD26	22852	broad.mit.edu	37	10	27382725	27382725	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27382725C>T	ENST00000376087.4	-	2	411	c.246G>A	c.(244-246)acG>acA	p.T82T	ANKRD26_ENST00000436985.2_Silent_p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	82					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATGTAGAGCCGTCCTATGAG	0.398																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(244-246)acG>acA		ankyrin repeat domain 26							85.0	80.0	81.0					10																	27382725		1978	4216	6194	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27382725C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.246G>A	10.37:g.27382725C>T						ANKRD26_ENST00000436985.2_Silent_p.T82T	p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			2	411	-			82					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.246G>A	CCDS41499.1																																																																																				0.398	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			50	206	0	0	0	1	0	50	206				
LARP1	23367	broad.mit.edu	37	5	154174798	154174798	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154174798T>C	ENST00000336314.4	+	8	1089	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	432					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATGGATGCTGATGGTTTCC	0.478																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1063-1065)gcT>gcC		La ribonucleoprotein domain family, member 1							187.0	155.0	166.0					5																	154174798		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154174798T>C	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1065T>C	5.37:g.154174798T>C							p.A355A	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		8	1089	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	432					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.1065T>C	CCDS4328.1																																																																																				0.478	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		86	275	0	0	0	1	0	86	275				
RHBDF1	64285	broad.mit.edu	37	16	112988	112988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:112988C>T	ENST00000262316.6	-	5	797	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	219					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCGCTGCGGCCGCCCGGAAG	0.701																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(655-657)Gcc>Acc		rhomboid 5 homolog 1 (Drosophila)							21.0	28.0	26.0					16																	112988		2198	4294	6492	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:112988C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.655G>A	16.37:g.112988C>T	ENSP00000262316:p.Ala219Thr					RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	p.A219T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			5	797	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	219					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.655G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.139759	0.56936	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.70164	-0.46;-0.46	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	L	0.46157	1.445	0.80722	D	1	P;P;P	0.48162	0.778;0.906;0.529	B;P;B	0.49561	0.374;0.615;0.361	T	0.65471	-0.6160	10	0.27082	T	0.32	-12.3562	17.0258	0.86446	0.0:1.0:0.0:0.0	.	219;242;219	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	T	219	ENSP00000262316:A219T;ENSP00000392133:A219T	ENSP00000262316:A219T	A	-	1	0	RHBDF1	52988	1.000000	0.71417	0.111000	0.21465	0.256000	0.26092	7.748000	0.85085	2.243000	0.73865	0.462000	0.41574	GCC		0.701	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		42	157	0	0	0	1	0	42	157				
GZF1	64412	broad.mit.edu	37	20	23350364	23350364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350364C>T	ENST00000338121.5	+	5	1848	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GZF1_ENST00000377051.2_Missense_Mutation_p.R591W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W|GZF1_ENST00000544236.1_Missense_Mutation_p.R115W			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	591					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTCCACTCTTCGGCGGCACAC	0.562																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1771-1773)Cgg>Tgg		GDNF-inducible zinc finger protein 1							86.0	68.0	74.0					20																	23350364		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350364C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1771C>T	20.37:g.23350364C>T	ENSP00000338290:p.Arg591Trp					GZF1_ENST00000377051.2_Missense_Mutation_p.R591W|GZF1_ENST00000544236.1_Missense_Mutation_p.R115W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W	p.R591W			Q9H116	GZF1_HUMAN			5	1848	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		591					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1771C>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869343	0.91587	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.35973	3.16;1.28;3.16;1.28	5.95	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000097	T	0.58119	0.2100	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57763	-0.7755	10	0.37606	T	0.19	.	15.7072	0.77592	0.1377:0.8623:0.0:0.0	.	591	Q9H116	GZF1_HUMAN	W	115;591;100;591	ENSP00000445458:R115W;ENSP00000338290:R591W;ENSP00000445118:R100W;ENSP00000366250:R591W	ENSP00000338290:R591W	R	+	1	2	GZF1	23298364	0.988000	0.35896	0.996000	0.52242	0.969000	0.65631	4.887000	0.63156	1.507000	0.48752	0.655000	0.94253	CGG		0.562	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		66	308	0	0	0	1	0	66	308				
DTX2	113878	broad.mit.edu	37	7	76131738	76131738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131738C>A	ENST00000324432.5	+	9	1864	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DTX2_ENST00000446820.2_Missense_Mutation_p.L405M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000446600.1_Missense_Mutation_p.L361M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	452					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						CTTCCACCTGCTGTGCCTCCT	0.647																																						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.(1354-1356)Ctg>Atg		deltex homolog 2 (Drosophila)							71.0	50.0	57.0					7																	76131738		2202	4295	6497	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76131738C>A		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.1354C>A	7.37:g.76131738C>A	ENSP00000322885:p.Leu452Met					DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000446820.2_Missense_Mutation_p.L405M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M|DTX2_ENST00000446600.1_Missense_Mutation_p.L361M	p.L452M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			9	1864	+			452					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.1354C>A	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	24.1	4.498720	0.85069	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85629	1.92;-2.01;1.92;1.92;1.92;-2.01	5.48	4.6	0.57074	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.139272	0.49916	D	0.000130	D	0.91751	0.7391	M	0.80183	2.485	0.58432	D	0.999999	D;P;D;D;D	0.89917	0.987;0.939;1.0;0.987;0.961	D;D;D;D;D	0.97110	0.986;0.979;1.0;0.986;0.975	D	0.91606	0.5299	10	0.46703	T	0.11	-29.1279	12.9873	0.58598	0.0:0.9222:0.0:0.0778	.	361;83;361;405;452	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	M	452;405;361;361;452;452;405	ENSP00000322885:L452M;ENSP00000305242:L405M;ENSP00000397648:L361M;ENSP00000390218:L452M;ENSP00000411986:L452M;ENSP00000392545:L405M	ENSP00000305242:L405M	L	+	1	2	AC005522.1	75969674	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.994000	0.70623	1.314000	0.45095	0.655000	0.94253	CTG		0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			44	146	1	0	1.51926e-22	1	1.72e-22	44	146				
CCDC60	160777	broad.mit.edu	37	12	119961570	119961570	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119961570C>T	ENST00000327554.2	+	11	1641	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	392										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTTTTACAGCGTAGCCCAGG	0.483																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1174-1176)agC>agT		coiled-coil domain containing 60							109.0	89.0	96.0					12																	119961570		2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119961570C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1176C>T	12.37:g.119961570C>T						RP11-768F21.1_ENST00000509470.2_lincRNA	p.S392S	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	11	1641	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		392						Silent	SNP	ENST00000327554.2	37	c.1176C>T	CCDS9190.1																																																																																				0.483	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		51	185	0	0	0	1	0	51	185				
CASR	846	broad.mit.edu	37	3	121980656	121980656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980656G>A	ENST00000490131.1	+	4	1146	c.774G>A	c.(772-774)gtG>gtA	p.V258V	CASR_ENST00000296154.5_Silent_p.V258V|CASR_ENST00000498619.1_Silent_p.V258V	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	258					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTAGAGGTGATTCAAAATT	0.498																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(772-774)gtG>gtA		calcium-sensing receptor	Cinacalcet(DB01012)						123.0	133.0	130.0					3																	121980656		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980656G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.774G>A	3.37:g.121980656G>A						CASR_ENST00000296154.5_Silent_p.V258V|CASR_ENST00000490131.1_Silent_p.V258V	p.V258V	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1212	+			258					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.774G>A	CCDS3010.1																																																																																				0.498	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		192	730	0	0	0	1	0	192	730				
EP400	57634	broad.mit.edu	37	12	132554069	132554069	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132554069C>T	ENST00000333577.4	+	52	9121	c.9012C>T	c.(9010-9012)ggC>ggT	p.G3004G	EP400_ENST00000332482.4_Silent_p.G2931G|EP400_ENST00000389561.2_Silent_p.G2968G|EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000330386.6_Silent_p.G2887G			Q96L91	EP400_HUMAN	E1A binding protein p400	3004					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCCCTGGCGCGCAGCAGA	0.657																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(9010-9012)ggC>ggT		E1A binding protein p400							74.0	75.0	75.0					12																	132554069		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132554069C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9012C>T	12.37:g.132554069C>T						EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000389561.2_Silent_p.G2968G|EP400_ENST00000330386.6_Silent_p.G2887G|EP400_ENST00000332482.4_Silent_p.G2931G	p.G3004G			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	52	9121	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3004					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.9012C>T																																																																																					0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		127	572	0	0	0	1	0	127	572				
API5	8539	broad.mit.edu	37	11	43351531	43351531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43351531C>T	ENST00000531273.1	+	10	1283	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	API5_ENST00000455725.2_Missense_Mutation_p.R371W|API5_ENST00000420461.2_Missense_Mutation_p.R328W|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000378852.3_Missense_Mutation_p.R382W|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.R382W|Y_RNA_ENST00000516843.1_RNA			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	382	Leucine-zipper.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTACTTTGCACGGGGCCTGCA	0.373																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1144-1146)Cgg>Tgg		apoptosis inhibitor 5							82.0	82.0	82.0					11																	43351531		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43351531C>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1144C>T	11.37:g.43351531C>T	ENSP00000431391:p.Arg382Trp					API5_ENST00000534600.1_Missense_Mutation_p.R382W|API5_ENST00000455725.2_Missense_Mutation_p.R371W|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Missense_Mutation_p.R382W|API5_ENST00000420461.2_Missense_Mutation_p.R328W	p.R382W	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			10	1269	+			382			Leucine-zipper.		B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.1144C>T	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567229	0.45694	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.46	2.45	0.29901	Armadillo-like helical (1);Armadillo-type fold (1);	0.057722	0.64402	D	0.000002	T	0.31071	0.0785	M	0.66297	2.02	0.50313	D	0.999863	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;0.995;0.986;0.992;0.998	T	0.02075	-1.1218	10	0.87932	D	0	-6.7078	9.0068	0.36117	0.3685:0.5638:0.0:0.0677	.	328;382;371;382;382	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	W	371;382;328;382;382;197	ENSP00000399341:R371W;ENSP00000431391:R382W;ENSP00000402540:R328W;ENSP00000368129:R382W;ENSP00000434462:R382W;ENSP00000436436:R197W	ENSP00000368129:R382W	R	+	1	2	API5	43308107	0.977000	0.34250	0.982000	0.44146	0.282000	0.26991	1.421000	0.34815	0.672000	0.31204	-0.119000	0.15052	CGG		0.373	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		55	211	0	0	0	1	0	55	211				
KYNU	8942	broad.mit.edu	37	2	143685260	143685260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143685260C>A	ENST00000410015.2	+	4	413	c.323C>A	c.(322-324)cCt>cAt	p.P108H	KYNU_ENST00000264170.4_Missense_Mutation_p.P108H|KYNU_ENST00000375773.2_Missense_Mutation_p.P108H|KYNU_ENST00000409512.1_Missense_Mutation_p.P108H					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GGGAAGCGTCCTTGGATTACA	0.363																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(322-324)cCt>cAt		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						207.0	194.0	198.0					2																	143685260		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143685260C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.323C>A	2.37:g.143685260C>A	ENSP00000387296:p.Pro108His					KYNU_ENST00000409512.1_Missense_Mutation_p.P108H|KYNU_ENST00000410015.2_Missense_Mutation_p.P108H|KYNU_ENST00000375773.2_Missense_Mutation_p.P108H	p.P108H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	4	581	+			108						Missense_Mutation	SNP	ENST00000410015.2	37	c.323C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.134064	0.77662	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.54675	0.56;0.56;0.56	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.92970	3.365	0.48135	D	0.999597	D;D	0.89917	0.998;1.0	D;D	0.91635	0.969;0.999	D	0.83707	0.0185	10	0.72032	D	0.01	.	16.9558	0.86259	0.0:1.0:0.0:0.0	.	108;108	Q16719;Q9BVW3	KYNU_HUMAN;.	H	108	ENSP00000264170:P108H;ENSP00000364928:P108H;ENSP00000386731:P108H	ENSP00000264170:P108H	P	+	2	0	KYNU	143401730	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.831000	0.62752	2.792000	0.96026	0.557000	0.71058	CCT		0.363	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		212	476	1	0	1.10809e-103	1	1.42563e-103	212	476				
IGF2R	3482	broad.mit.edu	37	6	160497015	160497015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160497015G>A	ENST00000356956.1	+	36	5451	c.5303G>A	c.(5302-5304)aGa>aAa	p.R1768K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1768					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CACTGTAAGAGAGGTGTGAGC	0.473																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5302-5304)aGa>aAa		insulin-like growth factor 2 receptor							176.0	161.0	166.0					6																	160497015		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160497015G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5303G>A	6.37:g.160497015G>A	ENSP00000349437:p.Arg1768Lys						p.R1768K	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	36	5451	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1768					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5303G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167333	0.78339	.	.	ENSG00000197081	ENST00000356956	T	0.01947	4.54	5.31	5.31	0.75309	Mannose-6-phosphate receptor, binding (1);	0.239713	0.40818	N	0.001003	T	0.01558	0.0050	L	0.45698	1.435	0.42957	D	0.994396	B	0.28439	0.212	B	0.38712	0.28	T	0.54807	-0.8238	10	0.12430	T	0.62	-6.6127	13.1296	0.59373	0.0834:0.0:0.9166:0.0	.	1768	P11717	MPRI_HUMAN	K	1768	ENSP00000349437:R1768K	ENSP00000349437:R1768K	R	+	2	0	IGF2R	160417005	1.000000	0.71417	0.904000	0.35570	0.901000	0.52897	4.728000	0.62000	2.637000	0.89404	0.655000	0.94253	AGA		0.473	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		110	477	0	0	0	1	0	110	477				
ZNF763	284390	broad.mit.edu	37	19	12089241	12089241	+	Missense_Mutation	SNP	G	G	A	rs182487066	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089241G>A	ENST00000358987.3	+	4	629	c.502G>A	c.(502-504)Gga>Aga	p.G168R	ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R|ZNF763_ENST00000343949.5_Missense_Mutation_p.G171R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R|ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GAATCACACCGGAGAGAAACC	0.428													g|||	10	0.00199681	0.003	0.0058	5008	,	,		21533	0.0		0.002	False		,,,				2504	0.0					ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(511-513)Gga>Aga		zinc finger protein 763		G	ARG/GLY	14,4378	797.9+/-415.4	0,14,2182	108.0	114.0	112.0		511	0.5	0.0	19		112	18,8582	809.7+/-407.1	0,18,4282	yes	missense	ZNF763	NM_001012753.1	125	0,32,6464	AA,AG,GG		0.2093,0.3188,0.2463		171/398	12089241	32,12960	2196	4300	6496	SO:0001583	missense	284390							g.chr19:12089241G>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.502G>A	19.37:g.12089241G>A	ENSP00000402017:p.Gly168Arg					ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R|ZNF763_ENST00000358987.3_Missense_Mutation_p.G168R|ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R	p.G171R	NM_001012753.1	NP_001012771.1					4	666	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.511G>A		3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	a	9.824	1.186558	0.21870	0.003188	0.002093	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	1.68	0.523	0.17060	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16128	0.0388	L	0.48362	1.52	0.21915	N	0.999476	B;B;P	0.34977	0.06;0.024;0.478	B;B;B	0.17722	0.019;0.017;0.017	T	0.15435	-1.0437	9	0.59425	D	0.04	.	4.247	0.10675	0.403:0.0:0.597:0.0	.	188;168;171	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	R	188;171;46;168	ENSP00000438117:G188R;ENSP00000369774:G171R;ENSP00000446166:G46R;ENSP00000402017:G168R	ENSP00000369774:G171R	G	+	1	0	ZNF763	11950241	0.002000	0.14202	0.018000	0.16275	0.088000	0.18126	0.870000	0.28010	0.031000	0.15407	0.195000	0.17529	GGA		0.428	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		143	592	0	0	0	1	0	143	592				
UCN2	90226	broad.mit.edu	37	3	48600466	48600466	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48600466C>T	ENST00000273610.3	-	2	174	c.92G>A	c.(91-93)cGc>cAc	p.R31H	COL7A1_ENST00000470076.1_5'Flank|PFKFB4_ENST00000536104.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATTCTGAGGGCGGAGCTGGAA	0.637																																						ENST00000273610.3																			0											c.(91-93)cGc>cAc		urocortin 2							42.0	41.0	42.0					3																	48600466		2203	4300	6503	SO:0001583	missense	90226				cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding	g.chr3:48600466C>T	AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"""Endogenous ligands"""	18414	protein-coding gene	gene with protein product	"""prepro-urocortin 2"""	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.92G>A	3.37:g.48600466C>T	ENSP00000273610:p.Arg31His						p.R31H	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	174	-			31					Q9BUG0	Missense_Mutation	SNP	ENST00000273610.3	37	c.92G>A	CCDS2772.1	.	.	.	.	.	.	.	.	.	.	C	9.062	0.994809	0.19043	.	.	ENSG00000145040	ENST00000273610	.	.	.	5.28	-1.96	0.07525	.	1.516670	0.04388	N	0.361943	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	9	0.46703	T	0.11	-14.0371	1.3254	0.02124	0.3784:0.1599:0.3189:0.1429	.	31	Q96RP3	UCN2_HUMAN	H	31	.	ENSP00000273610:R31H	R	-	2	0	UCN2	48575470	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.038000	0.13862	-0.329000	0.08527	-1.104000	0.02111	CGC		0.637	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257510.1	NM_033199		19	86	0	0	0	1	0	19	86				
SYT8	90019	broad.mit.edu	37	11	1858551	1858551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1858551G>A	ENST00000381968.3	+	9	1224	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.A352T|TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381905.3_5'Flank|SYT8_ENST00000535046.1_3'UTR	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	366					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGGCCCACGCCCGGCGGCC	0.756																																						ENST00000341958.3																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(1054-1056)Gcc>Acc		synaptotagmin VIII							12.0	14.0	14.0					11																	1858551		2161	4205	6366	SO:0001583	missense	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1858551G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1096G>A	11.37:g.1858551G>A	ENSP00000371394:p.Ala366Thr					SYT8_ENST00000381968.3_Missense_Mutation_p.A366T|SYT8_ENST00000535046.1_3'UTR	p.A352T			Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	8	1356	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	366					A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	c.1054G>A	CCDS7726.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.74|19.74	3.883746|3.883746	0.72410|0.72410	.|.	.|.	ENSG00000149043|ENSG00000149043	ENST00000381968;ENST00000341958|ENST00000381978	T;T|.	0.07688|.	3.17;3.17|.	3.85|3.85	-0.83|-0.83	0.10792|0.10792	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	.|.	.|.	.|.	.|.	T|T	0.67258|0.67258	0.2874|0.2874	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	P;D|.	0.63046|.	0.955;0.992|.	B;P|.	0.45712|.	0.223;0.491|.	T|T	0.66035|0.66035	-0.6023|-0.6023	9|5	0.87932|.	D|.	0|.	.|.	19.2976|19.2976	0.94129|0.94129	0.0:0.7222:0.2778:0.0|0.0:0.7222:0.2778:0.0	.|.	366;352|.	Q8NBV8;A6NCR4|.	SYT8_HUMAN;.|.	T|H	366;352|364	ENSP00000371394:A366T;ENSP00000343691:A352T|.	ENSP00000343691:A352T|.	A|R	+|+	1|2	0|0	SYT8|SYT8	1815127|1815127	0.020000|0.020000	0.18652|0.18652	0.673000|0.673000	0.29887|0.29887	0.775000|0.775000	0.43874|0.43874	0.288000|0.288000	0.18939|0.18939	-0.234000|-0.234000	0.09782|0.09782	0.436000|0.436000	0.28706|0.28706	GCC|CGC		0.756	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			6	164	0	0	0	1	0	6	164				
ACTR8	93973	broad.mit.edu	37	3	53907062	53907062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53907062C>T	ENST00000335754.3	-	9	1258	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Silent_p.L275L|ACTR8_ENST00000231909.7_Silent_p.L91L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	386					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AAGTTACCTGCAGTTTTTCAT	0.428																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(1156-1158)ctG>ctA		ARP8 actin-related protein 8 homolog (yeast)							72.0	68.0	69.0					3																	53907062		2203	4300	6503	SO:0001819	synonymous_variant	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53907062C>T		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1158G>A	3.37:g.53907062C>T						ACTR8_ENST00000231909.7_Silent_p.L91L|ACTR8_ENST00000482349.1_Silent_p.L275L	p.L386L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	9	1258	-			386					B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	c.1158G>A	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	8.541	0.873383	0.17322	.	.	ENSG00000113812	ENST00000486794	.	.	.	6.08	0.688	0.18027	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-18.7611	4.623	0.12465	0.0736:0.3076:0.4198:0.199	.	.	.	.	Y	140	.	.	C	-	2	0	ACTR8	53882102	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	0.989000	0.29629	0.455000	0.26910	-0.203000	0.12734	TGC		0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		14	58	0	0	0	1	0	14	58				
RALGPS2	55103	broad.mit.edu	37	1	178871296	178871296	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178871296C>A	ENST00000367635.3	+	18	1918	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	527	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGATGATGGCTGATGACCCT	0.393																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1579-1581)gCt>gAt		Ral GEF with PH domain and SH3 binding motif 2							225.0	196.0	206.0					1																	178871296		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178871296C>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1580C>A	1.37:g.178871296C>A	ENSP00000356607:p.Ala527Asp					RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D|RALGPS2_ENST00000324778.4_Missense_Mutation_p.A492D	p.A527D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			18	1918	+			527			PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1580C>A	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.642959|4.642959	0.87859|0.87859	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251|ENST00000367632	T;T;T|.	0.80738|.	-1.41;-1.41;-1.41|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68550|0.68550	0.3013|0.3013	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;P|.	0.43352|.	0.08;0.804|.	B;B|.	0.44315|.	0.017;0.446|.	T|T	0.63233|0.63233	-0.6683|-0.6683	10|5	0.36615|.	T|.	0.2|.	.|.	19.4161|19.4161	0.94700|0.94700	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	501;527|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	D|M	527;501;492;176|118	ENSP00000356607:A527D;ENSP00000356606:A501D;ENSP00000313613:A492D|.	ENSP00000313613:A492D|.	A|L	+|+	2|1	0|2	RALGPS2|RALGPS2	177137919|177137919	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.393	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		69	347	1	0	4.37588e-27	1	5.05892e-27	69	347				
SEH1L	81929	broad.mit.edu	37	18	12955494	12955494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12955494G>A	ENST00000262124.11	+	3	322	c.195G>A	c.(193-195)tgG>tgA	p.W65*	SEH1L_ENST00000399892.2_Nonsense_Mutation_p.W65*	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	65					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGTGACATGGGCCCATCCTG	0.413																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(193-195)tgG>tgA		SEH1-like (S. cerevisiae)							183.0	162.0	169.0					18																	12955494		2203	4300	6503	SO:0001587	stop_gained	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12955494G>A	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.195G>A	18.37:g.12955494G>A	ENSP00000262124:p.Trp65*					SEH1L_ENST00000399892.2_Nonsense_Mutation_p.W65*	p.W65*	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			3	322	+			65					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Nonsense_Mutation	SNP	ENST00000262124.11	37	c.195G>A	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	38	6.828804	0.97869	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2401	19.6097	0.95600	0.0:0.0:1.0:0.0	.	.	.	.	X	65	.	ENSP00000262124:W65X	W	+	3	0	SEH1L	12945494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.376000	0.97181	2.630000	0.89119	0.591000	0.81541	TGG		0.413	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		96	418	0	0	0	1	0	96	418				
NCKIPSD	51517	broad.mit.edu	37	3	48717248	48717248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717248C>T	ENST00000294129.2	-	7	1455	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	446	Leu-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTAATAGGCCACCAAGGCC	0.517																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1336-1338)Gcc>Acc		NCK interacting protein with SH3 domain							154.0	134.0	141.0					3																	48717248		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48717248C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1336G>A	3.37:g.48717248C>T	ENSP00000294129:p.Ala446Thr					NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T	p.A446T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	7	1455	-			446			Leu-rich.		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1336G>A	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.659780|2.659780	0.47572|0.47572	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129|ENST00000415281	T;T;T|.	0.64803|.	0.9;-0.12;-0.12|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.287923|.	0.28706|.	U|.	0.014408|.	T|T	0.70150|0.70150	0.3191|0.3191	L|L	0.51422|0.51422	1.61|1.61	0.39345|0.39345	D|D	0.965654|0.965654	P;P|.	0.38767|.	0.514;0.646|.	B;B|.	0.36608|.	0.115;0.229|.	T|T	0.68780|0.68780	-0.5318|-0.5318	10|5	0.14656|.	T|.	0.56|.	.|.	18.7356|18.7356	0.91753|0.91753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446;439|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	T|D	446;439;446|181	ENSP00000342621:A446T;ENSP00000389059:A439T;ENSP00000294129:A446T|.	ENSP00000294129:A446T|.	A|G	-|-	1|2	0|0	NCKIPSD|NCKIPSD	48692252|48692252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.733000|3.733000	0.55029|0.55029	2.424000|2.424000	0.82194|0.82194	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.517	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		83	291	0	0	0	1	0	83	291				
COLEC11	78989	broad.mit.edu	37	2	3660908	3660908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3660908G>A	ENST00000349077.4	+	3	241	c.138G>A	c.(136-138)gcG>gcA	p.A46A	COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000236693.7_Missense_Mutation_p.R17Q|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000403096.3_Silent_p.A20A|COLEC11_ENST00000418971.2_Silent_p.A60A	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	46					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGGGGATGCGGGAGAGAAGG	0.597																																						ENST00000236693.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(49-51)cGg>cAg		collectin sub-family member 11							28.0	30.0	30.0					2																	3660908		2192	4298	6490	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3660908G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.138G>A	2.37:g.3660908G>A						COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000403096.3_Silent_p.A20A|COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000418971.2_Silent_p.A60A|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000349077.4_Silent_p.A46A	p.R17Q	NM_199235.2	NP_954705.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	3	284	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		0					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.50G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930456	0.34096	.	.	ENSG00000118004	ENST00000236693	T	0.05081	3.5	4.62	-4.24	0.03777	.	.	.	.	.	T	0.03178	0.0093	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.43475	-0.9389	8	0.33940	T	0.23	-1.1399	0.8773	0.01227	0.193:0.3053:0.1738:0.3279	.	17	Q9BWP8-9	.	Q	17	ENSP00000236693:R17Q	ENSP00000236693:R17Q	R	+	2	0	COLEC11	3638783	0.714000	0.27936	0.810000	0.32431	0.817000	0.46193	0.010000	0.13242	-0.790000	0.04492	-1.099000	0.02127	CGG		0.597	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		17	78	0	0	0	1	0	17	78				
ATG14	22863	broad.mit.edu	37	14	55836605	55836605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55836605G>T	ENST00000247178.5	-	10	1246	c.1211C>A	c.(1210-1212)tCc>tAc	p.S404Y		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	404					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AAATTCCATGGACTCCTCAAG	0.512																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1210-1212)tCc>tAc		autophagy related 14							82.0	82.0	82.0					14																	55836605		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55836605G>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1211C>A	14.37:g.55836605G>T	ENSP00000247178:p.Ser404Tyr						p.S404Y	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			10	1246	-			404					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.1211C>A	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170899	0.94807	.	.	ENSG00000126775	ENST00000247178	T	0.37235	1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.57648	-0.7775	10	0.87932	D	0	-16.8472	19.9983	0.97395	0.0:0.0:1.0:0.0	.	404	Q6ZNE5	BAKOR_HUMAN	Y	404	ENSP00000247178:S404Y	ENSP00000247178:S404Y	S	-	2	0	ATG14	54906358	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.841000	0.99482	2.724000	0.93272	0.561000	0.74099	TCC		0.512	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		74	385	1	0	8.27458e-37	1	9.91862e-37	74	385				
TRIM33	51592	broad.mit.edu	37	1	114968227	114968227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114968227C>T	ENST00000358465.2	-	9	1622	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	513					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGTCGAAGCTGTGCTAAGT	0.458			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1537-1539)caG>caA		tripartite motif containing 33							343.0	299.0	314.0					1																	114968227		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968227C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1539G>A	1.37:g.114968227C>T						TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	p.Q513Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1622	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	513					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1539G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856383	0.17106	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.23	2.34	0.29019	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	-6.7607	10.5993	0.45358	0.0:0.7899:0.0:0.2101	.	.	.	.	N	250	.	.	S	-	2	0	TRIM33	114769750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.200000	0.42724	0.305000	0.22832	-0.157000	0.13467	AGC		0.458	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		170	715	0	0	0	1	0	170	715				
ALK	238	broad.mit.edu	37	2	30142927	30142927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30142927C>T	ENST00000389048.3	-	1	1505	c.599G>A	c.(598-600)aGa>aAa	p.R200K	ALK_ENST00000431873.1_Missense_Mutation_p.R200K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	200					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCTTCCCTCTCTGCCCACTTC	0.622			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(598-600)aGa>aAa		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						39.0	47.0	44.0					2																	30142927		2203	4298	6501	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:30142927C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.599G>A	2.37:g.30142927C>T	ENSP00000373700:p.Arg200Lys					ALK_ENST00000431873.1_Missense_Mutation_p.R200K	p.R200K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			1	1505	-	Acute lymphoblastic leukemia(172;0.155)		200					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.599G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805230	0.70682	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.79454	-1.27;2.77	5.33	5.33	0.75918	.	.	.	.	.	T	0.67571	0.2907	N	0.24115	0.695	0.28441	N	0.916784	B	0.19583	0.037	B	0.14023	0.01	T	0.53865	-0.8378	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	200	Q9UM73	ALK_HUMAN	K	200	ENSP00000373700:R200K;ENSP00000414027:R200K	.	R	-	2	0	ALK	29996431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.041000	0.49807	2.652000	0.90054	0.655000	0.94253	AGA		0.622	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		90	218	0	0	0	1	0	90	218				
TTN	7273	broad.mit.edu	37	2	179403774	179403774	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403774A>C	ENST00000591111.1	-	303	94189	c.93965T>G	c.(93964-93966)gTt>gGt	p.V31322G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32963G|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31322	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AGCATCGGGAACAAGCCCTGT	0.488																																						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.(98887-98889)gTt>gGt		titin							222.0	230.0	227.0					2																	179403774		2143	4231	6374	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403774A>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.93965T>G	2.37:g.179403774A>C	ENSP00000465570:p.Val31322Gly					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31322G|TTN-AS1_ENST00000592689.1_RNA	p.V32963G	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)		353	99112	-			31322					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.98888T>G		.	.	.	.	.	.	.	.	.	.	A	16.22	3.060845	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70902	0.3277	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68483	0.958;0.958;0.958;0.958	T	0.73672	-0.3909	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	23898;24023;24090;31322	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	30395;23898;24090;24023;23895	ENSP00000343764:V30395G;ENSP00000434586:V23898G;ENSP00000340554:V24090G;ENSP00000352154:V24023G	ENSP00000340554:V24090G	V	-	2	0	TTN	179112020	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.440000	0.80464	2.324000	0.78689	0.533000	0.62120	GTT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	338	0	0	0	1	0	16	338				
TSC2	7249	broad.mit.edu	37	16	2136299	2136299	+	Missense_Mutation	SNP	G	G	A	rs137854039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2136299G>A	ENST00000219476.3	+	37	5398	c.4768G>A	c.(4768-4770)Gac>Aac	p.D1590N	TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N|TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1590	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAGCCGGACAAGGTGTA	0.627			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4768-4770)Gac>Aac		tuberous sclerosis 2							121.0	95.0	104.0					16																	2136299		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2136299G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4768G>A	16.37:g.2136299G>A	ENSP00000219476:p.Asp1590Asn					TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N|TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N	p.D1590N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			37	5398	+		Hepatocellular(780;0.0202)	1590			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4768G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851442	0.71719	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	4.47	3.51	0.40186	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.91858	0.7423	N	0.04959	-0.14	0.80722	D	1	D;D;D;B;D;D;D	0.89917	0.999;0.999;0.998;0.213;0.998;0.998;1.0	D;D;D;B;D;D;D	0.87578	0.998;0.996;0.997;0.345;0.997;0.997;0.998	D	0.88000	0.2755	10	0.11794	T	0.64	-24.0776	13.8775	0.63662	0.0:0.0:0.8464:0.1536	.	1475;1487;1567;365;1546;1523;1590	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	N	1590;1524;1547;1487;1475;1567	ENSP00000219476:D1590N;ENSP00000248099:D1547N;ENSP00000399232:D1487N;ENSP00000371978:D1475N;ENSP00000344383:D1567N	ENSP00000219476:D1590N	D	+	1	0	TSC2	2076300	1.000000	0.71417	0.819000	0.32651	0.706000	0.40770	7.741000	0.84997	1.077000	0.40990	0.561000	0.74099	GAC		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		59	222	0	0	0	1	0	59	222				
SSX2IP	117178	broad.mit.edu	37	1	85124057	85124057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85124057C>A	ENST00000342203.3	-	9	1285	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S314I	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	341					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.S341N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCTGATGCTGTTTGTAAG	0.413																																						ENST00000437941.2																			1	Substitution - Missense(1)	p.S341N(1)	ovary(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(940-942)aGc>aTc		synovial sarcoma, X breakpoint 2 interacting protein							146.0	132.0	137.0					1																	85124057		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85124057C>A		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1022G>T	1.37:g.85124057C>A	ENSP00000340279:p.Ser341Ile					SSX2IP_ENST00000342203.3_Missense_Mutation_p.S341I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I	p.S314I	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	8	1293	-			341					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.941G>T	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194433	0.94960	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.55234	0.56;0.53	5.81	5.81	0.92471	.	0.035186	0.85682	D	0.000000	T	0.66386	0.2784	M	0.74258	2.255	0.80722	D	1	D;D;D	0.58268	0.982;0.97;0.97	P;P;P	0.59171	0.853;0.791;0.791	T	0.69101	-0.5234	10	0.87932	D	0	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	337;341;314	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	341;314;337;341	ENSP00000340279:S341I;ENSP00000412781:S314I	ENSP00000340279:S341I	S	-	2	0	SSX2IP	84896645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.746000	0.94184	0.655000	0.94253	AGC		0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		28	224	1	0	4.59853e-10	1	4.86106e-10	28	224				
UNC13A	23025	broad.mit.edu	37	19	17766716	17766716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17766716G>A	ENST00000519716.2	-	10	1258	c.1259C>T	c.(1258-1260)gCt>gTt	p.A420V	UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A508V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	420					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGGCTCAGCCTCAGGGAT	0.677																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1522-1524)gCt>gTt		unc-13 homolog A (C. elegans)							28.0	32.0	31.0					19																	17766716		2097	4210	6307	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17766716G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1259C>T	19.37:g.17766716G>A	ENSP00000429562:p.Ala420Val					UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V	p.A508V			Q9UPW8	UN13A_HUMAN			11	1522	-			420					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1523C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559814	0.27827	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.42;-1.44;-1.42;-1.29;-1.29;-1.42	4.02	4.02	0.46733	.	0.680491	0.13280	U	0.399808	T	0.67785	0.2930	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.54860	-0.8230	10	0.28530	T	0.3	0.0361	11.6373	0.51211	0.0:0.0:1.0:0.0	.	420	Q9UPW8	UN13A_HUMAN	V	420;508;420;420;420;420	ENSP00000429562:A420V;ENSP00000400409:A508V;ENSP00000252773:A420V;ENSP00000447236:A420V;ENSP00000447572:A420V;ENSP00000446831:A420V	ENSP00000252773:A420V	A	-	2	0	UNC13A	17627716	0.000000	0.05858	0.039000	0.18376	0.019000	0.09904	0.074000	0.14662	1.786000	0.52430	0.491000	0.48974	GCT		0.677	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		20	97	0	0	0	1	0	20	97				
SLC22A17	51310	broad.mit.edu	37	14	23821354	23821354	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821354C>T	ENST00000206544.8	-	1	406	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	SLC22A17_ENST00000354772.3_Missense_Mutation_p.A24T|SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	24					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCAGAGGCATTAGGGGGG	0.706																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(70-72)Gcc>Acc		solute carrier family 22, member 17							8.0	9.0	9.0					14																	23821354		2181	4246	6427	SO:0001583	missense	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821354C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.70G>A	14.37:g.23821354C>T	ENSP00000206544:p.Ala24Thr					SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T|SLC22A17_ENST00000206544.8_Missense_Mutation_p.A24T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_5'UTR	p.A24T	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	573	-	all_cancers(95;7.12e-06)		24					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	c.70G>A	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	9.849	1.193186	0.22037	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.68025	-0.3;-0.26;-0.26	3.72	2.82	0.32997	.	0.209202	0.30890	U	0.008668	T	0.34629	0.0904	N	0.08118	0	0.23708	N	0.997058	B;P;P	0.48694	0.0;0.914;0.86	B;B;B	0.35182	0.002;0.197;0.129	T	0.20907	-1.0261	10	0.22109	T	0.4	-2.203	5.8303	0.18577	0.0:0.7573:0.0:0.2427	.	24;24;24	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	T	24	ENSP00000346824:A24T;ENSP00000206544:A24T;ENSP00000380437:A24T	ENSP00000206544:A24T	A	-	1	0	SLC22A17	22891194	0.000000	0.05858	0.865000	0.33974	0.097000	0.18754	0.050000	0.14120	0.768000	0.33290	0.462000	0.41574	GCC		0.706	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		7	63	0	0	0	1	0	7	63				
LMF1	64788	broad.mit.edu	37	16	921238	921238	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:921238G>T	ENST00000262301.11	-	7	1019	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	334					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCTGGCCCAGAGGGGAACAA	0.642																																						ENST00000262301.11																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18						c.(1000-1002)tCt>tAt		lipase maturation factor 1							28.0	34.0	32.0					16																	921238		2027	4161	6188	SO:0001583	missense	64788					endoplasmic reticulum membrane|integral to membrane		g.chr16:921238G>T	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"""chromosome 16 open reading frame 26"", ""transmembrane protein 112"""	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1001C>A	16.37:g.921238G>T	ENSP00000262301:p.Ser334Tyr					LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y	p.S334Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN			7	1019	-		Hepatocellular(780;0.00308)	334					Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Missense_Mutation	SNP	ENST00000262301.11	37	c.1001C>A	CCDS45373.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504376	0.44558	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.25414	1.8;1.8;1.8	5.48	4.51	0.55191	.	0.262403	0.38605	N	0.001621	T	0.30355	0.0762	M	0.80616	2.505	0.80722	D	1	P	0.38223	0.623	B	0.30251	0.113	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.2062	14.3017	0.66357	0.0:0.0:0.8501:0.1499	.	334	Q96S06	LMF1_HUMAN	Y	334;334;117;88;97	ENSP00000262301:S334Y;ENSP00000382737:S334Y;ENSP00000437418:S97Y	ENSP00000262301:S334Y	S	-	2	0	LMF1	861239	1.000000	0.71417	0.022000	0.16811	0.003000	0.03518	4.439000	0.59968	1.298000	0.44778	0.561000	0.74099	TCT		0.642	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		8	106	1	0	5.18039e-06	1	5.32547e-06	8	106				
CDH5	1003	broad.mit.edu	37	16	66429998	66429998	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66429998C>A	ENST00000341529.3	+	8	1402	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGGGCCAGTTCTTCCGAGTCA	0.488																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1252-1254)ttC>ttA		cadherin 5, type 2 (vascular endothelium)							91.0	85.0	87.0					16																	66429998		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66429998C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1254C>A	16.37:g.66429998C>A	ENSP00000344115:p.Phe418Leu					CDH5_ENST00000539168.1_5'UTR	p.F418L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	8	1402	+		Ovarian(137;0.0955)	418			Cadherin 4.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1254C>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778105	0.31502	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.69685	-0.42	4.96	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51753	0.1693	N	0.25789	0.76	0.50813	D	0.999897	B	0.17852	0.024	B	0.29077	0.098	T	0.48927	-0.8991	9	0.34782	T	0.22	.	7.1131	0.25401	0.1751:0.727:0.0:0.0979	.	418	P33151	CADH5_HUMAN	L	418;159	ENSP00000344115:F418L	ENSP00000344115:F418L	F	+	3	2	CDH5	64987499	0.905000	0.30787	0.999000	0.59377	0.590000	0.36582	0.389000	0.20751	2.590000	0.87494	0.561000	0.74099	TTC		0.488	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		71	268	1	0	1.76847e-28	1	2.05822e-28	71	268				
TECTA	7007	broad.mit.edu	37	11	120989208	120989208	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989208A>G	ENST00000392793.1	+	7	1255	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TECTA_ENST00000264037.2_Silent_p.P328P			O75443	TECTA_HUMAN	tectorin alpha	328	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGGGGAGCCACACTACCACA	0.557																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(982-984)ccA>ccG		tectorin alpha							145.0	127.0	133.0					11																	120989208		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989208A>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.984A>G	11.37:g.120989208A>G						TECTA_ENST00000264037.2_Silent_p.P328P	p.P328P			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1255	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	328			VWFD 1.			Silent	SNP	ENST00000392793.1	37	c.984A>G	CCDS8434.1																																																																																				0.557	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		77	439	0	0	0	1	0	77	439				
TTC3	7267	broad.mit.edu	37	21	38538444	38538444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38538444C>A	ENST00000399017.2	+	33	6675	c.3928C>A	c.(3928-3930)Caa>Aaa	p.Q1310K	TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1310					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTATTGGGCTCAATCCCATTT	0.453																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3928-3930)Caa>Aaa		tetratricopeptide repeat domain 3							105.0	108.0	107.0					21																	38538444		2203	4298	6501	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538444C>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3928C>A	21.37:g.38538444C>A	ENSP00000381981:p.Gln1310Lys					TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K	p.Q1310K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			33	6675	+		Myeloproliferative disorder(46;0.0412)	1310					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3928C>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495499	0.44352	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.08282	3.11;3.11;3.11	5.09	4.14	0.48551	.	0.151389	0.30940	N	0.008577	T	0.08891	0.0220	L	0.51422	1.61	0.80722	D	1	P;B	0.37207	0.587;0.243	B;B	0.36464	0.225;0.033	T	0.12760	-1.0535	9	.	.	.	-10.37	10.4636	0.44594	0.0:0.7454:0.2546:0.0	.	368;1310	Q5GIT6;P53804	.;TTC3_HUMAN	K	1310	ENSP00000347889:Q1310K;ENSP00000381981:Q1310K;ENSP00000346791:Q1310K	.	Q	+	1	0	TTC3	37460314	0.157000	0.22836	0.943000	0.38184	0.590000	0.36582	1.965000	0.40471	2.533000	0.85409	0.655000	0.94253	CAA		0.453	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			64	584	1	0	9.65139e-37	1	1.15646e-36	64	584				
LDOC1L	84247	broad.mit.edu	37	22	44893032	44893032	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893032C>A	ENST00000341255.3	-	2	914	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	135										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		AGGCCACACGCTCGGCCTCAC	0.627																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(403-405)gaG>gaT		leucine zipper, down-regulated in cancer 1-like							40.0	43.0	42.0					22																	44893032		2203	4300	6503	SO:0001583	missense	84247							g.chr22:44893032C>A	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.405G>T	22.37:g.44893032C>A	ENSP00000340434:p.Glu135Asp						p.E135D	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	914	-		Ovarian(80;0.024)|all_neural(38;0.0416)	135					Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	c.405G>T	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056134	0.36277	.	.	ENSG00000188636	ENST00000341255	T	0.19105	2.17	3.27	2.24	0.28232	.	0.000000	0.47093	D	0.000258	T	0.11110	0.0271	N	0.24115	0.695	0.27200	N	0.960198	P	0.35745	0.518	B	0.36418	0.224	T	0.19516	-1.0303	10	0.14252	T	0.57	-14.7816	6.5382	0.22365	0.0:0.8664:0.0:0.1336	.	135	Q6ICC9	LDOCL_HUMAN	D	135	ENSP00000340434:E135D	ENSP00000340434:E135D	E	-	3	2	LDOC1L	43271696	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.504000	0.22626	0.956000	0.37904	0.591000	0.81541	GAG		0.627	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		40	180	1	0	8.20599e-20	1	9.16906e-20	40	180				
CYP2E1	1571	broad.mit.edu	37	10	135345639	135345639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135345639G>A	ENST00000463117.2	+	6	771	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CYP2E1_ENST00000480558.1_3'UTR|AL161645.2_ENST00000599428.1_5'Flank|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	167					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCAGCCTTTCGACCCCACCTT	0.552									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(499-501)Gac>Aac		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						121.0	107.0	112.0					10																	135345639		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345639G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.499G>A	10.37:g.135345639G>A	ENSP00000440689:p.Asp167Asn					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|CYP2E1_ENST00000480558.1_3'UTR	p.D167N			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	6	771	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	167					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.499G>A	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190522	0.38707	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.59	4.59	0.56863	.	0.081583	0.85682	D	0.000000	T	0.70098	0.3185	L	0.49256	1.55	0.36824	D	0.886529	B	0.14012	0.009	B	0.16722	0.016	T	0.71951	-0.4437	10	0.56958	D	0.05	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	167	P05181	CP2E1_HUMAN	N	167;167;80;30	ENSP00000440689:D167N;ENSP00000252945:D167N;ENSP00000412754:D80N;ENSP00000397299:D30N	ENSP00000252945:D167N	D	+	1	0	CYP2E1	135195629	0.995000	0.38212	0.963000	0.40424	0.010000	0.07245	2.312000	0.43726	2.837000	0.97791	0.655000	0.94253	GAC		0.552	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		37	523	0	0	0	1	0	37	523				
OR4A15	81328	broad.mit.edu	37	11	55135947	55135947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135947C>A	ENST00000314706.3	+	1	588	c.588C>A	c.(586-588)ttC>ttA	p.F196L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTCCCTTTCTGTGGACCCA	0.428																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(586-588)ttC>ttA		olfactory receptor, family 4, subfamily A, member 15							134.0	124.0	128.0					11																	55135947		2201	4293	6494	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135947C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.588C>A	11.37:g.55135947C>A	ENSP00000325065:p.Phe196Leu						p.F196L	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	588	+			196					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.588C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	14.70	2.612928	0.46631	.	.	ENSG00000181958	ENST00000314706	T	0.00039	8.85	3.48	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.122467	0.37219	N	0.002196	T	0.00328	0.0010	M	0.71206	2.165	0.26873	N	0.967715	D	0.60575	0.988	D	0.64595	0.927	T	0.41142	-0.9525	10	0.87932	D	0	.	5.9037	0.18980	0.0:0.7489:0.0:0.2511	.	196	Q8NGL6	O4A15_HUMAN	L	196	ENSP00000325065:F196L	ENSP00000325065:F196L	F	+	3	2	OR4A15	54892523	0.685000	0.27652	0.947000	0.38551	0.708000	0.40852	-0.010000	0.12743	0.635000	0.30488	0.492000	0.49549	TTC		0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		133	607	1	0	3.16155e-46	1	3.88191e-46	133	607				
TNNI3	7137	broad.mit.edu	37	19	55668952	55668952	+	Silent	SNP	C	C	T	rs397516361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55668952C>T	ENST00000344887.5	-	1	148	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_3'UTR|DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	2			A -> V (in CMD2A). {ECO:0000269|PubMed:15070570}.		cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCCATCCGCCATGCTGA	0.687																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(4-6)gcG>gcA		troponin I type 3 (cardiac)							84.0	94.0	91.0					19																	55668952		1969	4167	6136	SO:0001819	synonymous_variant	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55668952C>T	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.6G>A	19.37:g.55668952C>T						TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	p.A2A	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	1	148	-			2		A -> V (in CMD2A).				Silent	SNP	ENST00000344887.5	37	c.6G>A	CCDS42628.1																																																																																				0.687	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			172	709	0	0	0	1	0	172	709				
NDUFAF3	25915	broad.mit.edu	37	3	49062389	49062389	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49062389C>T	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Missense_Mutation_p.R412H	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						ACCCATACCGCGATATTTCTT	0.547																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1234-1236)cGc>cAc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						78.0	75.0	76.0					3																	49062389		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062389C>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062389C>T							p.R412H	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1274	-			412			IMP binding (By similarity).			Missense_Mutation	SNP	ENST00000326925.6	37	c.1235G>A	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040572	0.93630	.	.	ENSG00000178035	ENST00000326739	D	0.81499	-1.5	5.33	5.33	0.75918	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.95832	0.8859	10	0.87932	D	0	-11.5071	19.0076	0.92857	0.0:1.0:0.0:0.0	.	412	P12268	IMDH2_HUMAN	H	412	ENSP00000321584:R412H	ENSP00000321584:R412H	R	-	2	0	IMPDH2	49037393	1.000000	0.71417	0.680000	0.29994	0.989000	0.77384	7.369000	0.79578	2.489000	0.83994	0.655000	0.94253	CGC		0.547	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		10	375	0	0	0	1	0	10	375				
C10orf107	219621	broad.mit.edu	37	10	63525708	63525708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63525708C>T	ENST00000330194.2	+	7	869	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	188										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CCGAGATAAACGAAAAACTGC	0.383																																						ENST00000330194.2																			0				breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8						c.(562-564)aaC>aaT		chromosome 10 open reading frame 107							74.0	71.0	72.0					10																	63525708		2203	4300	6503	SO:0001819	synonymous_variant	219621							g.chr10:63525708C>T	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.564C>T	10.37:g.63525708C>T							p.N188N	NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN			7	869	+	Prostate(12;0.016)		188					Q5T1B8	Silent	SNP	ENST00000330194.2	37	c.564C>T	CCDS7262.1																																																																																				0.383	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		29	166	0	0	0	1	0	29	166				
ZNF583	147949	broad.mit.edu	37	19	56935478	56935478	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935478G>T	ENST00000333201.9	+	5	1661	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAACATCAGAGAATTCATACT	0.383																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1450-1452)aGa>aTa		zinc finger protein 583							90.0	94.0	92.0					19																	56935478		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935478G>T	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1451G>T	19.37:g.56935478G>T	ENSP00000388502:p.Arg484Ile					ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I|ZNF583_ENST00000585612.1_Intron	p.R484I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1661	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	484					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1451G>T	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723444	0.68959	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000332	T	0.51719	0.1691	M	0.78223	2.4	0.54753	D	0.999981	D	0.71674	0.998	D	0.71414	0.973	T	0.53436	-0.8439	9	.	.	.	.	16.7887	0.85582	0.0:0.0:1.0:0.0	.	484	Q96ND8	ZN583_HUMAN	I	484	ENSP00000291598:R484I;ENSP00000388502:R484I	.	R	+	2	0	ZNF583	61627290	0.000000	0.05858	0.008000	0.14137	0.993000	0.82548	-0.421000	0.07053	2.571000	0.86741	0.655000	0.94253	AGA		0.383	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		88	393	1	0	2.46799e-47	1	3.03728e-47	88	393				
KCNH5	27133	broad.mit.edu	37	14	63246595	63246595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63246595C>T	ENST00000322893.7	-	10	2138	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	624					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGCATGGGCAAGGGTGGTT	0.438																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1870-1872)Gcc>Acc		potassium voltage-gated channel, subfamily H (eag-related), member 5							101.0	87.0	92.0					14																	63246595		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246595C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1870G>A	14.37:g.63246595C>T	ENSP00000321427:p.Ala624Thr					KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T	p.A624T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2138	-			624					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1870G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401805	0.83120	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.98926	-5.24;-5.04	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.41124	1.26	0.80722	D	1	P;D	0.64830	0.823;0.994	P;D	0.69479	0.535;0.964	D	0.99864	1.1087	10	0.54805	T	0.06	.	19.8759	0.96870	0.0:1.0:0.0:0.0	.	566;624	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	T	624;566	ENSP00000321427:A624T;ENSP00000378419:A566T	ENSP00000321427:A624T	A	-	1	0	KCNH5	62316348	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.814000	0.86154	2.704000	0.92352	0.585000	0.79938	GCC		0.438	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		48	196	0	0	0	1	0	48	196				
LMF2	91289	broad.mit.edu	37	22	50944481	50944481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50944481C>T	ENST00000474879.2	-	5	772	c.757G>A	c.(757-759)Gct>Act	p.A253T	NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.A228T|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T|NCAPH2_ENST00000299821.11_5'Flank|NCAPH2_ENST00000395701.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	253						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAAAGCAGCCAAGCGCAGG	0.652																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(682-684)Gct>Act		lipase maturation factor 2							23.0	25.0	25.0					22																	50944481		2190	4289	6479	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50944481C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.757G>A	22.37:g.50944481C>T	ENSP00000424381:p.Ala253Thr					LMF2_ENST00000474879.2_Missense_Mutation_p.A253T|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T	p.A228T			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	850	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	253					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.682G>A	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.815|4.815	0.151616|0.151616	0.09185|0.09185	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080|ENST00000487499	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	4.77|4.77	0.0864|0.0864	0.14446|0.14446	.|.	1.011940|.	0.07905|.	N|.	0.973284|.	T|T	0.21841|0.21841	0.0526|0.0526	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.004|.	B;B|.	0.18561|.	0.022;0.006|.	T|T	0.22730|0.22730	-1.0208|-1.0208	10|5	0.17369|.	T|.	0.5|.	-7.0581|-7.0581	1.5665|1.5665	0.02605|0.02605	0.3843:0.3235:0.1292:0.163|0.3843:0.3235:0.1292:0.163	.|.	253;228|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	T|D	253;253;228|259	ENSP00000370173:A253T;ENSP00000424381:A253T;ENSP00000216080:A228T|.	ENSP00000216080:A228T|.	A|G	-|-	1|2	0|0	LMF2|LMF2	49291347|49291347	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.189000|0.189000	0.23516|0.23516	0.424000|0.424000	0.21330|0.21330	-0.065000|-0.065000	0.13021|0.13021	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.652	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		13	43	0	0	0	1	0	13	43				
TOX3	27324	broad.mit.edu	37	16	52473589	52473589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:52473589C>T	ENST00000219746.9	-	7	1563	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	427					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGAGGGTGCTGAGCCAACC	0.532																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(1279-1281)Gca>Aca		TOX high mobility group box family member 3							123.0	120.0	121.0					16																	52473589		2185	4294	6479	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473589C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1279G>A	16.37:g.52473589C>T	ENSP00000219746:p.Ala427Thr					TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	p.A427T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			7	1563	-			427					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.1279G>A	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	2.332	-0.353204	0.05173	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10099	2.94;2.91	5.85	2.76	0.32466	.	0.618951	0.16793	N	0.199299	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42103	-0.9471	10	0.12766	T	0.61	.	2.7183	0.05194	0.1109:0.4213:0.2926:0.1752	.	422;427	B4DRD0;O15405	.;TOX3_HUMAN	T	427;422	ENSP00000219746:A427T;ENSP00000385705:A422T	ENSP00000219746:A427T	A	-	1	0	TOX3	51031090	0.332000	0.24722	0.009000	0.14445	0.739000	0.42172	1.266000	0.33039	0.813000	0.34350	0.655000	0.94253	GCA		0.532	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		69	289	0	0	0	1	0	69	289				
MBTPS1	8720	broad.mit.edu	37	16	84104310	84104310	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1663-1665)ttA>ttG		membrane-bound transcription factor peptidase, site 1							106.0	94.0	98.0					16																	84104310		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84104310T>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1665A>G	16.37:g.84104310T>C							p.L555L	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			13	2160	-			555					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1665A>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198901	0.22121	.	.	ENSG00000140943	ENST00000347334	.	.	.	5.76	-7.95	0.01148	.	.	.	.	.	T	0.65637	0.2710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74993	-0.3474	5	0.87932	D	0	-13.5847	11.8154	0.52207	0.0:0.5526:0.1687:0.2786	.	.	.	.	V	1	.	ENSP00000342515:M1V	M	-	1	0	MBTPS1	82661811	0.007000	0.16637	0.424000	0.26647	0.897000	0.52465	-1.082000	0.03400	-1.436000	0.01970	0.482000	0.46254	ATG		0.522	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		131	402	0	0	0	1	0	131	402				
MNDA	4332	broad.mit.edu	37	1	158813851	158813851	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158813851T>G	ENST00000368141.4	+	4	770	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	170					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCTGCAGCTGTGGATCATCCC	0.483																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(508-510)gTg>gGg		myeloid cell nuclear differentiation antigen							258.0	212.0	228.0					1																	158813851		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813851T>G	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.509T>G	1.37:g.158813851T>G	ENSP00000357123:p.Val170Gly						p.V170G	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			4	770	+	all_hematologic(112;0.0378)		170						Missense_Mutation	SNP	ENST00000368141.4	37	c.509T>G	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	0.029	-1.344458	0.01277	.	.	ENSG00000163563	ENST00000368141	T	0.05081	3.5	2.94	-5.88	0.02290	.	.	.	.	.	T	0.00784	0.0026	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	9	0.23891	T	0.37	-0.2149	6.7544	0.23505	0.2972:0.1296:0.0:0.5732	.	170	P41218	MNDA_HUMAN	G	170	ENSP00000357123:V170G	ENSP00000357123:V170G	V	+	2	0	MNDA	157080475	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.082000	0.00045	-4.526000	0.00044	-2.020000	0.00432	GTG		0.483	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		201	793	0	0	0	1	0	201	793				
IRX6	79190	broad.mit.edu	37	16	55361590	55361590	+	Missense_Mutation	SNP	G	G	A	rs139251893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361590G>A	ENST00000290552.7	+	4	1838	c.506G>A	c.(505-507)cGc>cAc	p.R169H	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	169					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGAGCACCGCAAAAACCCC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		10868	0.0		0.001	False		,,,				2504	0.0					ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(505-507)cGc>cAc		iroquois homeobox 6							122.0	93.0	103.0					16																	55361590		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361590G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.506G>A	16.37:g.55361590G>A	ENSP00000290552:p.Arg169His					IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	p.R169H	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			4	1838	+			169					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.506G>A	CCDS32449.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	37	6.278479	0.97435	.	.	ENSG00000159387	ENST00000290552	D	0.91577	-2.87	6.08	6.08	0.98989	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.054741	0.85682	D	0.000000	D	0.92967	0.7762	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.978	D	0.93304	0.6679	10	0.87932	D	0	-17.4136	20.2585	0.98435	0.0:0.0:1.0:0.0	.	169;68	P78412;Q9BZI2	IRX6_HUMAN;.	H	169	ENSP00000290552:R169H	ENSP00000290552:R169H	R	+	2	0	IRX6	53919091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.753000	0.98904	2.894000	0.99253	0.655000	0.94253	CGC		0.612	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		65	256	0	0	0	1	0	65	256				
FREM2	341640	broad.mit.edu	37	13	39448647	39448647	+	Silent	SNP	C	C	T	rs374308184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39448647C>T	ENST00000280481.7	+	18	8421	c.8205C>T	c.(8203-8205)atC>atT	p.I2735I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2735					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCATGCGCATCGGTGATGAGG	0.473																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8203-8205)atC>atT		FRAS1 related extracellular matrix protein 2		T		1,4405	2.1+/-5.4	0,1,2202	180.0	160.0	167.0		8205	-2.5	0.0	13		167	0,8600		0,0,4300	no	coding-synonymous	FREM2	NM_207361.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2735/3170	39448647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39448647C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8205C>T	13.37:g.39448647C>T							p.I2735I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	18	8421	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2735					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.8205C>T	CCDS31960.1																																																																																				0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		67	410	0	0	0	1	0	67	410				
UBR5	51366	broad.mit.edu	37	8	103357683	103357683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103357683C>A	ENST00000520539.1	-	8	1433	c.827G>T	c.(826-828)aGc>aTc	p.S276I	UBR5_ENST00000521922.1_Missense_Mutation_p.S276I|UBR5_ENST00000220959.4_Missense_Mutation_p.S276I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	276					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCAAAATAGCTAATGTCTTC	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(826-828)aGc>aTc		ubiquitin protein ligase E3 component n-recognin 5							94.0	87.0	90.0					8																	103357683		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103357683C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.827G>T	8.37:g.103357683C>A	ENSP00000429084:p.Ser276Ile					UBR5_ENST00000521922.1_Missense_Mutation_p.S276I|UBR5_ENST00000220959.4_Missense_Mutation_p.S276I	p.S276I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		8	1433	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		276					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.827G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190150	0.94923	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45668	0.9;0.9;0.89	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	N	0.22421	0.69	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.32455	-0.9906	10	0.20046	T	0.44	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	276;276	E7EMW7;O95071	.;UBR5_HUMAN	I	276	ENSP00000429084:S276I;ENSP00000220959:S276I;ENSP00000427819:S276I	ENSP00000220959:S276I	S	-	2	0	UBR5	103426859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.802000	0.96397	0.655000	0.94253	AGC		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		26	121	1	0	1.85244e-09	1	1.95034e-09	26	121				
BBS10	79738	broad.mit.edu	37	12	76740146	76740146	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740146A>G	ENST00000393262.3	-	2	1702	c.1619T>C	c.(1618-1620)tTa>tCa	p.L540S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	540					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTCTTGAGTAATGGTTCATA	0.363									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(1618-1620)tTa>tCa		Bardet-Biedl syndrome 10							127.0	123.0	124.0					12																	76740146		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740146A>G	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1619T>C	12.37:g.76740146A>G	ENSP00000376946:p.Leu540Ser						p.L540S	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	1702	-			540					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.1619T>C	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.062276	0.00386	.	.	ENSG00000179941	ENST00000393262	D	0.85861	-2.04	4.69	0.647	0.17796	.	1.854630	0.02745	N	0.116791	T	0.72534	0.3472	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.54833	-0.8234	10	0.21540	T	0.41	0.4892	2.1329	0.03754	0.4868:0.2422:0.0772:0.1938	.	540	Q8TAM1	BBS10_HUMAN	S	540	ENSP00000376946:L540S	ENSP00000376946:L540S	L	-	2	0	BBS10	75264277	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.150000	0.16263	0.023000	0.15187	0.533000	0.62120	TTA		0.363	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		98	397	0	0	0	1	0	98	397				
NUP88	4927	broad.mit.edu	37	17	5323023	5323023	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5323023G>T	ENST00000573584.1	-	0	457				RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'UTR|RPAIN_ENST00000381209.3_5'UTR|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'UTR	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCTGAGCACAGCCAATCCGCG	0.701																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15								nucleoporin 88kDa																																						4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5323023G>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.-53C>A	17.37:g.5323023G>T						RPAIN_ENST00000381208.5_5'UTR|RPAIN_ENST00000536255.2_5'UTR|RPAIN_ENST00000381209.3_5'UTR		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			0	457	-								D3DTM2|Q9BWE5	Translation_Start_Site	SNP	ENST00000573584.1	37		CCDS11070.1																																																																																				0.701	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		35	109	1	0	7.04047e-22	1	7.94894e-22	35	109				
CTSB	1508	broad.mit.edu	37	8	11706619	11706619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11706619G>A	ENST00000353047.6	-	5	635	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y|CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y|CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|RP11-589N15.2_ENST00000602711.1_RNA	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	128					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ACGCTGACGTGCGCATTGGTG	0.647																																						ENST00000353047.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(382-384)Cac>Tac		cathepsin B							63.0	49.0	54.0					8																	11706619		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11706619G>A	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.382C>T	8.37:g.11706619G>A	ENSP00000345672:p.His128Tyr					CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y	p.H128Y	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	5	635	-	all_epithelial(15;0.205)		128					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.382C>T	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236222	0.39498	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.54	0.945	0.19543	Peptidase C1A, papain C-terminal (2);	0.753217	0.12991	N	0.422495	T	0.78805	0.4341	N	0.17631	0.505	0.20307	N	0.999912	B	0.02656	0.0	B	0.04013	0.001	T	0.68096	-0.5499	10	0.87932	D	0	.	13.8957	0.63770	0.0:0.0:0.3848:0.6152	.	128	P07858	CATB_HUMAN	Y	128;128;128;128;128;128;128;128;34;128;128;128;128;128;128;128	ENSP00000415889:H128Y;ENSP00000345672:H128Y;ENSP00000435105:H128Y;ENSP00000433215:H128Y;ENSP00000409917:H128Y;ENSP00000342070:H128Y;ENSP00000432244:H128Y;ENSP00000434217:H128Y;ENSP00000436159:H128Y;ENSP00000433995:H128Y;ENSP00000435074:H128Y;ENSP00000436627:H128Y;ENSP00000434725:H128Y;ENSP00000436122:H128Y;ENSP00000431518:H128Y	ENSP00000342070:H128Y	H	-	1	0	CTSB	11744028	0.678000	0.27586	0.000000	0.03702	0.893000	0.52053	1.123000	0.31308	0.206000	0.20587	0.462000	0.41574	CAC		0.647	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		38	159	0	0	0	1	0	38	159				
FAM151A	338094	broad.mit.edu	37	1	55080452	55080452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55080452C>T	ENST00000302250.2	-	4	656	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	166						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCGCCGGACTTTGCCTTCC	0.557																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(496-498)Gtc>Atc		family with sequence similarity 151, member A							118.0	98.0	105.0					1																	55080452		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55080452C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.496G>A	1.37:g.55080452C>T	ENSP00000306888:p.Val166Ile					FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I|ACOT11_ENST00000371316.3_Intron	p.V166I	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			4	656	-			166					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.496G>A	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.257499	0.01457	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.11063	2.81;2.81	3.6	0.589	0.17452	.	0.233360	0.31246	N	0.007982	T	0.03477	0.0100	N	0.05078	-0.115	0.09310	N	1	B	0.17038	0.02	B	0.20955	0.032	T	0.44982	-0.9292	10	0.06236	T	0.91	-17.4804	5.7578	0.18182	0.0:0.3913:0.0:0.6087	.	166	Q8WW52	F151A_HUMAN	I	166	ENSP00000306888:V166I;ENSP00000360353:V166I	ENSP00000294370:V166I	V	-	1	0	FAM151A	54853040	0.100000	0.21855	0.040000	0.18447	0.064000	0.16182	0.299000	0.19138	0.294000	0.22547	0.462000	0.41574	GTC		0.557	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		62	179	0	0	0	1	0	62	179				
CLCA4	22802	broad.mit.edu	37	1	87025637	87025637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87025637C>T	ENST00000370563.3	+	2	224	c.182C>T	c.(181-183)aCg>aTg	p.T61M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.T61M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAGCTTCTACGTACCTGTTT	0.343																																						ENST00000370563.3																			1	Substitution - Missense(1)	p.T61M(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(181-183)aCg>aTg		chloride channel accessory 4							138.0	124.0	128.0					1																	87025637		1820	4083	5903	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87025637C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.182C>T	1.37:g.87025637C>T	ENSP00000359594:p.Thr61Met					CLCA4_ENST00000263723.5_5'UTR	p.T61M	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	2	224	+		Lung NSC(277;0.238)	61					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.182C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303901	0.40795	.	.	ENSG00000016602	ENST00000370563	T	0.12465	2.68	5.82	2.79	0.32731	Chloride channel calcium-activated (1);	0.957600	0.08747	N	0.899695	T	0.10380	0.0254	M	0.72894	2.215	0.18873	N	0.999986	P	0.42483	0.781	P	0.48571	0.582	T	0.30357	-0.9981	10	0.33940	T	0.23	-4.8939	6.2731	0.20965	0.2637:0.5996:0.0:0.1366	.	61	Q14CN2	CLCA4_HUMAN	M	61	ENSP00000359594:T61M	ENSP00000359594:T61M	T	+	2	0	CLCA4	86798225	0.000000	0.05858	0.161000	0.22692	0.786000	0.44442	0.637000	0.24659	0.768000	0.33290	0.655000	0.94253	ACG		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		64	543	0	0	0	1	0	64	543				
DST	667	broad.mit.edu	37	6	56417657	56417657	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56417657G>A	ENST00000361203.3	-	57	15307	c.15300C>T	c.(15298-15300)taC>taT	p.Y5100Y	DST_ENST00000446842.2_Silent_p.Y4776Y|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000244364.6_Silent_p.Y2688Y|DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.Y5102Y|DST_ENST00000370754.5_Silent_p.Y5280Y			Q03001	DYST_HUMAN	dystonin	5100					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATGGTCAGGTATTTGTTAC	0.453																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(15838-15840)taC>taT		dystonin							148.0	139.0	142.0					6																	56417657		1912	4151	6063	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417657G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15300C>T	6.37:g.56417657G>A						DST_ENST00000370769.4_Silent_p.Y5102Y|DST_ENST00000244364.6_Silent_p.Y2688Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000361203.3_Silent_p.Y5100Y|DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000446842.2_Silent_p.Y4776Y	p.Y5280Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	15839	-	Lung NSC(77;0.103)		5100					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.15840C>T																																																																																					0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		122	514	0	0	0	1	0	122	514				
KIF26A	26153	broad.mit.edu	37	14	104639499	104639499	+	Missense_Mutation	SNP	G	G	A	rs200636236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104639499G>A	ENST00000423312.2	+	8	1606	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	KIF26A_ENST00000315264.7_Missense_Mutation_p.E397K	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	536	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGCTGGCCGAGGTGGCCCC	0.721																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(1189-1191)Gag>Aag		kinesin family member 26A		G	LYS/GLU	1,4051		0,1,2025	12.0	18.0	16.0		1606	3.3	0.9	14		16	1,8273		0,1,4136	yes	missense	KIF26A	NM_015656.1	56	0,2,6161	AA,AG,GG		0.0121,0.0247,0.0162	possibly-damaging	536/1883	104639499	2,12324	2026	4137	6163	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104639499G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1606G>A	14.37:g.104639499G>A	ENSP00000388241:p.Glu536Lys					KIF26A_ENST00000423312.2_Missense_Mutation_p.E536K	p.E397K			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	7	1567	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	536			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.1189G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442707	0.83993	2.47E-4	1.21E-4	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.43294	0.95;0.95	5.18	3.31	0.37934	Kinesin, motor domain (4);	.	.	.	.	T	0.31544	0.0800	N	0.20845	0.615	0.49582	D	0.999808	D	0.57571	0.98	P	0.47044	0.535	T	0.02639	-1.1130	9	0.39692	T	0.17	.	9.8426	0.41008	0.0733:0.0:0.7873:0.1395	.	536	Q9ULI4	KI26A_HUMAN	K	536;397	ENSP00000388241:E536K;ENSP00000325452:E397K	ENSP00000325452:E397K	E	+	1	0	KIF26A	103709252	1.000000	0.71417	0.884000	0.34674	0.801000	0.45260	9.524000	0.98036	0.536000	0.28733	0.462000	0.41574	GAG		0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			16	103	0	0	0	1	0	16	103				
DIDO1	11083	broad.mit.edu	37	20	61528081	61528081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61528081G>A	ENST00000266070.4	-	7	2181	c.1856C>T	c.(1855-1857)gCa>gTa	p.A619V	DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	619					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTTGCCGCTGCAGGTGCCGG	0.642																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1855-1857)gCa>gTa		death inducer-obliterator 1							48.0	53.0	51.0					20																	61528081		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61528081G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1856C>T	20.37:g.61528081G>A	ENSP00000266070:p.Ala619Val					DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V	p.A619V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			7	2181	-	Breast(26;5.68e-08)		619					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1856C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634833	0.29068	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.11604	3.11;3.11;2.76;2.76	5.71	-8.92	0.00774	.	0.584787	0.12503	N	0.463129	T	0.05227	0.0139	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.28618	-1.0038	10	0.23891	T	0.37	0.6734	10.4715	0.44640	0.519:0.2212:0.2597:0.0	.	619;619	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	V	619	ENSP00000266070:A619V;ENSP00000378752:A619V;ENSP00000378749:A619V;ENSP00000378744:A619V	ENSP00000266070:A619V	A	-	2	0	DIDO1	60998526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-2.225000	0.00724	-0.768000	0.03414	GCA		0.642	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		105	463	0	0	0	1	0	105	463				
GLP2R	9340	broad.mit.edu	37	17	9783772	9783772	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9783772A>C	ENST00000262441.5	+	11	1736	c.1223A>C	c.(1222-1224)cAa>cCa	p.Q408P	GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	408					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACTGATGATCAAGTTGAAGGA	0.378																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1222-1224)cAa>cCa		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						227.0	204.0	212.0					17																	9783772		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9783772A>C	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1223A>C	17.37:g.9783772A>C	ENSP00000262441:p.Gln408Pro					GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	p.Q408P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			11	1736	+			408					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1223A>C	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637962	0.29157	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.46063	0.88	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.405610	0.18344	N	0.144076	T	0.55986	0.1955	L	0.41710	1.295	0.35801	D	0.823106	D	0.69078	0.997	D	0.72982	0.979	T	0.64871	-0.6305	10	0.66056	D	0.02	.	14.0834	0.64939	1.0:0.0:0.0:0.0	.	408	O95838	GLP2R_HUMAN	P	408	ENSP00000262441:Q408P	ENSP00000262441:Q408P	Q	+	2	0	GLP2R	9724497	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	4.707000	0.61852	2.313000	0.78055	0.454000	0.30748	CAA		0.378	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			40	858	0	0	0	1	0	40	858				
MED17	9440	broad.mit.edu	37	11	93529577	93529577	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93529577C>T	ENST00000251871.3	+	7	1301	c.1014C>T	c.(1012-1014)agC>agT	p.S338S	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	338					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATAAATAGGCTTGCAGTTAT	0.333																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.e7-1		mediator complex subunit 17							142.0	144.0	144.0					11																	93529577		2201	4298	6499	SO:0001630	splice_region_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93529577C>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1013-1C>T	11.37:g.93529577C>T						MED17_ENST00000533367.1_3'UTR	p.S338_splice	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			7	1301	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	338					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Splice_Site	SNP	ENST00000251871.3	37	c.1012_splice	CCDS8295.1																																																																																				0.333	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	Silent	69	380	0	0	0	1	0	69	380				
AK7	122481	broad.mit.edu	37	14	96909108	96909108	+	Silent	SNP	C	C	T	rs373955939		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96909108C>T	ENST00000267584.4	+	7	776	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	244					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGTTTTTGGCGATGGAACAA	0.428																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(730-732)ggC>ggT		adenylate kinase 7							284.0	250.0	262.0					14																	96909108		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96909108C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.732C>T	14.37:g.96909108C>T							p.G244G	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	7	776	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	244					Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.732C>T	CCDS9945.1																																																																																				0.428	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			12	678	0	0	0	1	0	12	678				
MPV17L2	84769	broad.mit.edu	37	19	18305800	18305800	+	Silent	SNP	C	C	T	rs200247021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305800C>T	ENST00000599612.2	+	4	568	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	156						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CTGCGCAGTTCGTGAACTTCC	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11026	0.0		0.0	False		,,,				2504	0.0					ENST00000534474.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(391-393)Cgt>Tgt		MPV17 mitochondrial membrane protein-like 2							111.0	108.0	109.0					19																	18305800		2052	4187	6239	SO:0001819	synonymous_variant	84769					integral to membrane		g.chr19:18305800C>T	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.468C>T	19.37:g.18305800C>T						MPV17L2_ENST00000599612.2_Silent_p.F156F	p.R131C			Q567V2	M17L2_HUMAN			3	441	+			137					Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	ENST00000599612.2	37	c.391C>T	CCDS42522.1																																																																																				0.667	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		66	331	0	0	0	1	0	66	331				
TANC2	26115	broad.mit.edu	37	17	61497715	61497715	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61497715T>A	ENST00000424789.2	+	25	4376	c.4372T>A	c.(4372-4374)Tca>Aca	p.S1458T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1458					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATCTCCAGCTCACCTCTTGG	0.607																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(4372-4374)Tca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							97.0	96.0	97.0					17																	61497715		1978	4165	6143	SO:0001583	missense	26115						binding	g.chr17:61497715T>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4372T>A	17.37:g.61497715T>A	ENSP00000387593:p.Ser1458Thr					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T	p.S1458T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	4376	+			1458					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.4372T>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698321	0.68386	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70986	-0.53;-0.53	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.70193	0.3196	N	0.19112	0.55	0.46241	D	0.998941	P	0.49447	0.924	P	0.57776	0.827	T	0.73154	-0.4072	10	0.51188	T	0.08	.	13.7905	0.63138	0.0:0.0:0.0:1.0	.	1458	Q9HCD6	TANC2_HUMAN	T	1468;1458	ENSP00000374171:S1468T;ENSP00000387593:S1458T	ENSP00000374171:S1468T	S	+	1	0	TANC2	58851447	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.808000	0.75206	2.012000	0.59069	0.459000	0.35465	TCA		0.607	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			62	262	0	0	0	1	0	62	262				
KLHL31	401265	broad.mit.edu	37	6	53519407	53519407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519407C>A	ENST00000407079.1	-	1	663	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	KLHL31_ENST00000370905.3_Missense_Mutation_p.D222Y			Q9H511	KLH31_HUMAN	kelch-like family member 31	222	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTCATCATCTATAAGAAGT	0.348																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(664-666)Gat>Tat		kelch-like family member 31							79.0	79.0	79.0					6																	53519407		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519407C>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.664G>T	6.37:g.53519407C>A	ENSP00000384644:p.Asp222Tyr					KLHL31_ENST00000407079.1_Missense_Mutation_p.D222Y	p.D222Y	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	804	-	Lung NSC(77;0.0158)		222			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.664G>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948747	0.73787	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.70282	-0.47;-0.47	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83293	-0.0032	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	222	Q9H511	KLH31_HUMAN	Y	222	ENSP00000359942:D222Y;ENSP00000384644:D222Y	ENSP00000359942:D222Y	D	-	1	0	KLHL31	53627366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAT		0.348	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		77	324	1	0	7.31121e-38	1	8.79105e-38	77	324				
MAPK6	5597	broad.mit.edu	37	15	52338703	52338703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338703C>T	ENST00000261845.5	+	2	853	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	16					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTTTTGATCTGGGTTCTAG	0.378																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(46-48)Ctg>Ttg		mitogen-activated protein kinase 6							146.0	149.0	148.0					15																	52338703		2195	4293	6488	SO:0001819	synonymous_variant	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52338703C>T	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.46C>T	15.37:g.52338703C>T							p.L16L	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	2	853	+			16					B2R945|B5BU65|Q68DH4|Q8IYN8	Silent	SNP	ENST00000261845.5	37	c.46C>T	CCDS10147.1																																																																																				0.378	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		74	714	0	0	0	1	0	74	714				
ZFHX3	463	broad.mit.edu	37	16	72829446	72829446	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829446T>G	ENST00000268489.5	-	9	7807	c.7135A>C	c.(7135-7137)Agc>Cgc	p.S2379R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1465R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2379					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGGATGAGCTGGTAGGCGTC	0.547																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7135-7137)Agc>Cgc		zinc finger homeobox 3							114.0	109.0	111.0					16																	72829446		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829446T>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7135A>C	16.37:g.72829446T>G	ENSP00000268489:p.Ser2379Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1465R	p.S2379R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7807	-		Ovarian(137;0.13)	2379					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7135A>C	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743710	0.49151	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74315	-0.83;-0.81	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000013	T	0.57989	0.2091	N	0.14661	0.345	0.51482	D	0.999925	B	0.14438	0.01	B	0.08055	0.003	T	0.54248	-0.8322	10	0.16896	T	0.51	.	15.5119	0.75789	0.0:0.0:0.0:1.0	.	2379	Q15911	ZFHX3_HUMAN	R	2379;1465	ENSP00000268489:S2379R;ENSP00000438926:S1465R	ENSP00000268489:S2379R	S	-	1	0	ZFHX3	71386947	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.758000	0.68776	2.063000	0.61619	0.459000	0.35465	AGC		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	615	0	0	0	1	0	10	615				
ADH1B	125	broad.mit.edu	37	4	100231991	100231991	+	Missense_Mutation	SNP	G	G	A	rs147811380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100231991G>A	ENST00000305046.8	-	8	1101	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	345					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GGTTATTAACGCATCCAGTGA	0.343													.|||	4	0.000798722	0.0008	0.0	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0031					ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(1033-1035)gCg>gTg		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)	G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	114.0	115.0	115.0		1034	2.0	0.0	4	dbSNP_134	115	0,8600		0,0,4300	no	missense	ADH1B	NM_000668.4	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	345/376	100231991	2,13004	2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100231991G>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.1034C>T	4.37:g.100231991G>A	ENSP00000306606:p.Ala345Val					ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V	p.A345V			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	8	1101	-			345					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.1034C>T	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207604	0.06180	4.54E-4	0.0	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.06528	3.29;3.29	3.86	2.03	0.26663	GroES-like (1);	0.489617	0.22393	N	0.060641	T	0.05960	0.0155	L	0.49513	1.565	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.34129	-0.9841	10	0.56958	D	0.05	0.8131	3.2959	0.06966	0.0879:0.1493:0.4565:0.3063	.	332;305;345	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	V	345;305;332	ENSP00000306606:A345V;ENSP00000378351:A305V	ENSP00000306606:A345V	A	-	2	0	ADH1B	100451014	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	1.077000	0.30741	0.189000	0.20188	0.561000	0.74099	GCG		0.343	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		105	426	0	0	0	1	0	105	426				
SYNJ2	8871	broad.mit.edu	37	6	158516726	158516726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158516726C>T	ENST00000355585.4	+	27	3896	c.3821C>T	c.(3820-3822)gCc>gTc	p.A1274V	SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1274	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCGTTGAGGCCCCTCCTGTC	0.562																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3820-3822)gCc>gTc		synaptojanin 2							56.0	60.0	59.0					6																	158516726		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516726C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3821C>T	6.37:g.158516726C>T	ENSP00000347792:p.Ala1274Val					SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V	p.A1274V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	3896	+			1274			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3821C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357158	0.24598	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92545	-3.04;-3.06;0.87	5.39	2.45	0.29901	.	0.912726	0.09482	N	0.796209	T	0.70254	0.3203	N	0.19112	0.55	0.09310	N	1	B;B	0.25955	0.138;0.138	B;B	0.21151	0.033;0.033	T	0.59037	-0.7529	10	0.35671	T	0.21	.	5.2339	0.15436	0.257:0.5452:0.125:0.0729	.	669;1274	B4DLC4;O15056	.;SYNJ2_HUMAN	V	1229;1274;359	ENSP00000356089:A1229V;ENSP00000347792:A1274V;ENSP00000356079:A359V	ENSP00000347792:A1274V	A	+	2	0	SYNJ2	158436714	0.000000	0.05858	0.031000	0.17742	0.026000	0.11368	0.360000	0.20250	-0.230000	0.09840	0.650000	0.86243	GCC		0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			89	378	0	0	0	1	0	89	378				
ESRRB	2103	broad.mit.edu	37	14	76905684	76905684	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905684G>A	ENST00000509242.1	+	0	86				ESRRB_ENST00000380887.2_De_novo_Start_InFrame|ESRRB_ENST00000556177.1_De_novo_Start_InFrame|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_De_novo_Start_InFrame	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta						gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GTGTCCACAGGCTGCTGAACA	0.647																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24								estrogen-related receptor beta							71.0	75.0	74.0					14																	76905684		2177	4259	6436			2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905684G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718			14.37:g.76905684G>A						ESRRB_ENST00000509242.1_De_novo_Start_InFrame|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_De_novo_Start_InFrame|ESRRB_ENST00000556177.1_De_novo_Start_InFrame				A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	0	60	+								A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Translation_Start_Site	SNP	ENST00000509242.1	37		CCDS9850.2	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419138	0.62622	.	.	ENSG00000119715	ENST00000512784	D	0.92199	-2.99	4.89	4.89	0.63831	.	.	.	.	.	D	0.94725	0.8298	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94249	0.7492	5	.	.	.	.	18.0685	0.89398	0.0:0.0:1.0:0.0	.	.	.	.	I	1	ENSP00000424992:M1I	.	M	+	3	0	ESRRB	75975437	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.778000	0.99011	2.272000	0.75746	0.655000	0.94253	ATG		0.647	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			34	724	0	0	0	1	0	34	724				
CKM	1158	broad.mit.edu	37	19	45821181	45821181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821181C>A	ENST00000221476.3	-	3	424	c.250G>T	c.(250-252)Gtt>Ttt	p.V84F		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	84	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCCTTGAAAACTTCGTAGGAC	0.557																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(250-252)Gtt>Ttt		creatine kinase, muscle	Creatine(DB00148)						108.0	88.0	95.0					19																	45821181		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45821181C>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.250G>T	19.37:g.45821181C>A	ENSP00000221476:p.Val84Phe						p.V84F	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	3	424	-		Ovarian(192;0.0336)|all_neural(266;0.112)	84			Phosphagen kinase N-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.250G>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131791	0.56828	.	.	ENSG00000104879	ENST00000221476	T	0.68765	-0.35	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.209227	0.39687	N	0.001295	D	0.84705	0.5531	H	0.97240	3.965	0.80722	D	1	P	0.49559	0.925	P	0.53809	0.735	D	0.90235	0.4282	10	0.87932	D	0	-12.8929	15.0581	0.71930	0.0:1.0:0.0:0.0	.	84	P06732	KCRM_HUMAN	F	84	ENSP00000221476:V84F	ENSP00000221476:V84F	V	-	1	0	CKM	50513021	1.000000	0.71417	0.056000	0.19401	0.042000	0.13812	7.283000	0.78640	2.418000	0.82041	0.650000	0.86243	GTT		0.557	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			37	200	1	0	6.03168e-27	1	6.96966e-27	37	200				
FOCAD	54914	broad.mit.edu	37	9	20990139	20990139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20990139G>A	ENST00000380249.1	+	44	5386	c.5022G>A	c.(5020-5022)ttG>ttA	p.L1674L	FOCAD_ENST00000605086.1_Silent_p.L1110L|FOCAD_ENST00000338382.6_Silent_p.L1674L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1674						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ACTTCTTCTTGCTGATATTTG	0.478																																						ENST00000380249.1																			0											c.(5020-5022)ttG>ttA		focadhesin							90.0	80.0	83.0					9																	20990139		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20990139G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.5022G>A	9.37:g.20990139G>A						FOCAD_ENST00000605086.1_Silent_p.L1110L|FOCAD_ENST00000338382.6_Silent_p.L1674L	p.L1674L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			44	5386	+			1674					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.5022G>A	CCDS34993.1																																																																																				0.478	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		55	288	0	0	0	1	0	55	288				
OR1L4	254973	broad.mit.edu	37	9	125486321	125486321	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486321T>A	ENST00000259466.1	+	1	53	c.53T>A	c.(52-54)cTc>cAc	p.L18H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTCCTGGGCCTCTCTTCCAAC	0.502																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(52-54)cTc>cAc		olfactory receptor, family 1, subfamily L, member 4							212.0	200.0	204.0					9																	125486321		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486321T>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.53T>A	9.37:g.125486321T>A	ENSP00000259466:p.Leu18His						p.L18H	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	53	+			18					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.53T>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	t	14.80	2.644701	0.47258	.	.	ENSG00000136939	ENST00000259466	T	0.00342	8.03	3.94	3.94	0.45596	.	0.542857	0.15309	N	0.269196	T	0.00784	0.0026	M	0.92412	3.305	0.35383	D	0.79007	D	0.57571	0.98	P	0.53912	0.737	T	0.53279	-0.8461	10	0.87932	D	0	-9.9891	11.9185	0.52779	0.0:0.0:0.0:1.0	.	18	Q8NGR5	OR1L4_HUMAN	H	18	ENSP00000259466:L18H	ENSP00000259466:L18H	L	+	2	0	OR1L4	124526142	0.229000	0.23729	1.000000	0.80357	0.428000	0.31595	3.485000	0.53208	1.646000	0.50622	0.254000	0.18369	CTC		0.502	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			153	658	0	0	0	1	0	153	658				
LCORL	254251	broad.mit.edu	37	4	17910775	17910775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17910775C>T	ENST00000382226.5	-	5	732	c.624G>A	c.(622-624)gaG>gaA	p.E208E	LCORL_ENST00000326877.4_Silent_p.E208E|LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000539056.1_Silent_p.E121E	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	208					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGCCTTCCTGCTCTTCCTGAA	0.348																																						ENST00000382226.5																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(622-624)gaG>gaA		ligand dependent nuclear receptor corepressor-like							187.0	181.0	183.0					4																	17910775		2203	4300	6503	SO:0001819	synonymous_variant	254251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:17910775C>T		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.624G>A	4.37:g.17910775C>T						LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000539056.1_Silent_p.E121E|LCORL_ENST00000326877.3_Silent_p.E208E	p.E208E	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN			5	732	-			208					Q96NK1	Silent	SNP	ENST00000382226.5	37	c.624G>A	CCDS54749.1																																																																																				0.348	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_153686		96	438	0	0	0	1	0	96	438				
OR13C8	138802	broad.mit.edu	37	9	107332160	107332160	+	Missense_Mutation	SNP	T	T	G	rs150811269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107332160T>G	ENST00000335040.1	+	1	712	c.712T>G	c.(712-714)Ttc>Gtc	p.F238V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACATAAGGCCTTCTCCACCTG	0.413													T|||	2	0.000399361	0.0	0.0	5008	,	,		20999	0.0		0.002	False		,,,				2504	0.0					ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(712-714)Ttc>Gtc		olfactory receptor, family 13, subfamily C, member 8		T	VAL/PHE	0,4406		0,0,2203	144.0	135.0	138.0		712	4.9	1.0	9	dbSNP_134	138	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR13C8	NM_001004483.1	50	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	probably-damaging	238/321	107332160	2,13004	2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332160T>G		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.712T>G	9.37:g.107332160T>G	ENSP00000334068:p.Phe238Val						p.F238V	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	712	+			238					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.712T>G	CCDS35090.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	16.44	3.122941	0.56613	0.0	2.33E-4	ENSG00000186943	ENST00000335040	T	0.00291	8.27	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.01029	0.0034	H	0.95402	3.665	0.31828	N	0.625145	D	0.76494	0.999	D	0.77004	0.989	T	0.01520	-1.1334	10	0.87932	D	0	.	12.791	0.57534	0.0:0.0:0.0:1.0	.	238	Q8NGS7	O13C8_HUMAN	V	238	ENSP00000334068:F238V	ENSP00000334068:F238V	F	+	1	0	OR13C8	106371981	0.762000	0.28451	1.000000	0.80357	0.996000	0.88848	1.275000	0.33144	2.181000	0.69327	0.459000	0.35465	TTC		0.413	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			100	315	0	0	0	1	0	100	315				
SUV39H2	79723	broad.mit.edu	37	10	14939500	14939500	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939500T>C	ENST00000354919.6	+	3	833	c.833T>C	c.(832-834)aTg>aCg	p.M278T	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.M218T|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	278	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGTTTTGTCATGGAATATGTT	0.373																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(652-654)aTg>aCg		suppressor of variegation 3-9 homolog 2 (Drosophila)							66.0	63.0	64.0					10																	14939500		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939500T>C	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.833T>C	10.37:g.14939500T>C	ENSP00000346997:p.Met278Thr					DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.M278T	p.M218T	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN			2	884	+			278			Pre-SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.653T>C	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429912	0.43122	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	T;T;D	0.89552	-1.47;-1.47;-2.53	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	N	0.12527	0.23	0.80722	D	1	B	0.32939	0.391	B	0.40534	0.332	T	0.82337	-0.0507	10	0.35671	T	0.21	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	278	Q9H5I1	SUV92_HUMAN	T	278;218;218	ENSP00000346997:M278T;ENSP00000319208:M218T;ENSP00000392201:M218T	ENSP00000319208:M218T	M	+	2	0	SUV39H2	14979506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	ATG		0.373	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		74	374	0	0	0	1	0	74	374				
C3orf20	84077	broad.mit.edu	37	3	14798938	14798938	+	Silent	SNP	G	G	A	rs375154586		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	667						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGACTGCCCGCTGGTGCTGC	0.672																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(1999-2001)ccG>ccA		chromosome 3 open reading frame 20							44.0	44.0	44.0					3																	14798938		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14798938G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2001G>A	3.37:g.14798938G>A						C3orf20_ENST00000412910.1_Silent_p.P545P|C3orf20_ENST00000435614.1_Silent_p.P545P	p.P667P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			13	2453	+			667					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.2001G>A	CCDS33706.1																																																																																				0.672	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		69	245	0	0	0	1	0	69	245				
EFCAB3	146779	broad.mit.edu	37	17	60484019	60484019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60484019C>A	ENST00000305286.3	+	7	745	c.667C>A	c.(667-669)Ctt>Att	p.L223I	EFCAB3_ENST00000450662.2_Missense_Mutation_p.L275I	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	223							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ATTTAAATTTCTTGAAGAGCT	0.393																																						ENST00000450662.2																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17						c.(823-825)Ctt>Att		EF-hand calcium binding domain 3							45.0	46.0	46.0					17																	60484019		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60484019C>A	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.667C>A	17.37:g.60484019C>A	ENSP00000302649:p.Leu223Ile					EFCAB3_ENST00000305286.3_Missense_Mutation_p.L223I	p.L275I	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		9	894	+			223					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.823C>A	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483978	0.63962	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.67865	-0.29;-0.23	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000085	T	0.80839	0.4700	M	0.75777	2.31	0.35585	D	0.806632	D	0.76494	0.999	D	0.76071	0.987	D	0.86008	0.1499	10	0.87932	D	0	.	14.4283	0.67230	0.0:1.0:0.0:0.0	.	223	Q8N7B9	EFCB3_HUMAN	I	275;223	ENSP00000403932:L275I;ENSP00000302649:L223I	ENSP00000302649:L223I	L	+	1	0	EFCAB3	57837751	0.998000	0.40836	1.000000	0.80357	0.629000	0.37895	1.748000	0.38308	2.785000	0.95823	0.591000	0.81541	CTT		0.393	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		46	222	1	0	6.08268e-21	1	6.83416e-21	46	222				
C20orf194	25943	broad.mit.edu	37	20	3363127	3363127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3363127C>T	ENST00000252032.9	-	2	177	c.110G>A	c.(109-111)aGc>aAc	p.S37N	U3_ENST00000364476.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	37										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGTCAGGATGCTCTGAACCTG	0.567																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(109-111)aGc>aAc		chromosome 20 open reading frame 194							57.0	60.0	59.0					20																	3363127		2029	4185	6214	SO:0001583	missense	25943							g.chr20:3363127C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.110G>A	20.37:g.3363127C>T	ENSP00000252032:p.Ser37Asn						p.S37N	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			2	177	-			37					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.110G>A	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982398	0.53827	.	.	ENSG00000088854	ENST00000252032	T	0.19532	2.14	5.79	3.88	0.44766	.	0.564362	0.20972	N	0.082372	T	0.21267	0.0512	L	0.56769	1.78	0.58432	D	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.03576	-1.1023	10	0.72032	D	0.01	.	8.5911	0.33688	0.0:0.7658:0.0:0.2342	.	37	Q5TEA3	CT194_HUMAN	N	37	ENSP00000252032:S37N	ENSP00000252032:S37N	S	-	2	0	C20orf194	3311127	0.977000	0.34250	0.924000	0.36721	0.994000	0.84299	1.387000	0.34430	0.796000	0.33947	0.655000	0.94253	AGC		0.567	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		26	187	0	0	0	1	0	26	187				
AIFM2	84883	broad.mit.edu	37	10	71874688	71874688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71874688C>T	ENST00000307864.1	-	8	1171	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	320					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GGCTTGTAGGCCTGGAGAGGC	0.567																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(958-960)Gcc>Acc		apoptosis-inducing factor, mitochondrion-associated, 2							34.0	33.0	34.0					10																	71874688		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71874688C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.958G>A	10.37:g.71874688C>T	ENSP00000312370:p.Ala320Thr					AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T	p.A320T	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			8	1171	-			320					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.958G>A	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	3.098	-0.185301	0.06340	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.29917	1.55;1.55	5.8	0.082	0.14427	.	0.472269	0.24683	N	0.036442	T	0.06645	0.0170	N	0.00483	-1.445	0.22142	N	0.999334	B	0.02656	0.0	B	0.06405	0.002	T	0.30736	-0.9968	10	0.27082	T	0.32	-3.5514	3.46	0.07529	0.1884:0.3093:0.0:0.5023	.	320	Q9BRQ8	AIFM2_HUMAN	T	320;320;283	ENSP00000362345:A320T;ENSP00000312370:A320T	ENSP00000312370:A320T	A	-	1	0	AIFM2	71544694	0.324000	0.24652	0.992000	0.48379	0.247000	0.25773	-0.048000	0.11944	0.099000	0.17552	0.563000	0.77884	GCC		0.567	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		32	127	0	0	0	1	0	32	127				
MPEG1	219972	broad.mit.edu	37	11	58978424	58978424	+	Missense_Mutation	SNP	G	G	A	rs369599067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58978424G>A	ENST00000361050.3	-	1	2000	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	639						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATGGCCCTCCGCAGCTCTATC	0.552																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1915-1917)Cgg>Tgg		macrophage expressed 1		G	TRP/ARG	1,3931		0,1,1965	95.0	103.0	100.0		1915	5.7	0.9	11		100	0,8270		0,0,4135	no	missense	MPEG1	NM_001039396.1	101	0,1,6100	AA,AG,GG		0.0,0.0254,0.0082	probably-damaging	639/717	58978424	1,12201	1966	4135	6101	SO:0001583	missense	219972					integral to membrane		g.chr11:58978424G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1915C>T	11.37:g.58978424G>A	ENSP00000354335:p.Arg639Trp						p.R639W	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	2000	-		all_epithelial(135;0.125)	639					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1915C>T	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484135	0.26598	2.54E-4	0.0	ENSG00000197629	ENST00000361050	T	0.24350	1.86	5.69	5.69	0.88448	.	0.466187	0.23481	N	0.047712	T	0.35219	0.0924	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.38112	-0.9676	10	0.66056	D	0.02	-13.3692	10.7561	0.46237	0.086:0.0:0.914:0.0	.	639	Q2M385	MPEG1_HUMAN	W	639	ENSP00000354335:R639W	ENSP00000354335:R639W	R	-	1	2	MPEG1	58735000	0.007000	0.16637	0.940000	0.37924	0.049000	0.14656	1.633000	0.37113	2.682000	0.91365	0.655000	0.94253	CGG		0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		157	591	0	0	0	1	0	157	591				
FREM2	341640	broad.mit.edu	37	13	39264040	39264040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264040C>T	ENST00000280481.7	+	1	2775	c.2559C>T	c.(2557-2559)caC>caT	p.H853H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	853					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2557-2559)caC>caT		FRAS1 related extracellular matrix protein 2							116.0	107.0	110.0					13																	39264040		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264040C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2559C>T	13.37:g.39264040C>T							p.H853H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2775	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	853					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.2559C>T	CCDS31960.1																																																																																				0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		50	217	0	0	0	1	0	50	217				
HOXB3	3213	broad.mit.edu	37	17	46628302	46628302	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628302C>T	ENST00000470495.1	-	2	2137	c.690G>A	c.(688-690)cgG>cgA	p.R230R	HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000485909.2_Silent_p.R98R|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Silent_p.R157R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Silent_p.R157R			P14651	HXB3_HUMAN	homeobox B3	230					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTTGATCTGCCGCTCGCTGA	0.612																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(688-690)cgG>cgA		homeobox B3							101.0	103.0	102.0					17																	46628302		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628302C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.690G>A	17.37:g.46628302C>T						HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Silent_p.R157R|HOXB3_ENST00000489475.1_Silent_p.R157R|HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Silent_p.R98R	p.R230R			P14651	HXB3_HUMAN			2	2137	-			230					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.690G>A	CCDS11528.1																																																																																				0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			146	707	0	0	0	1	0	146	707				
SLC2A13	114134	broad.mit.edu	37	12	40223918	40223918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40223918C>A	ENST00000280871.4	-	7	1482	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1432-1434)Gca>Tca		solute carrier family 2 (facilitated glucose transporter), member 13							103.0	98.0	100.0					12																	40223918		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40223918C>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1432G>T	12.37:g.40223918C>A	ENSP00000280871:p.Ala478Ser	HNSCC(50;0.14)					p.A478S	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			7	1482	-		Lung NSC(34;0.105)|all_lung(34;0.123)	478					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1432G>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430936	0.25726	.	.	ENSG00000151229	ENST00000280871	T	0.81415	-1.49	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111670	0.64402	N	0.000010	T	0.71417	0.3337	L	0.38175	1.15	0.80722	D	1	B	0.19935	0.04	B	0.18871	0.023	T	0.66380	-0.5938	10	0.02654	T	1	-16.0386	18.6262	0.91340	0.0:1.0:0.0:0.0	.	478	Q96QE2	MYCT_HUMAN	S	478	ENSP00000280871:A478S	ENSP00000280871:A478S	A	-	1	0	SLC2A13	38510185	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.220000	0.72237	2.702000	0.92279	0.591000	0.81541	GCA		0.378	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			45	201	1	0	5.73435e-26	1	6.59582e-26	45	201				
CSE1L	1434	broad.mit.edu	37	20	47700686	47700686	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47700686A>G	ENST00000262982.2	+	15	1729	c.1606A>G	c.(1606-1608)Aac>Gac	p.N536D	CSE1L_ENST00000396192.3_Missense_Mutation_p.N480D|CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	536					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GCGAGGGCCTAACAATGCCAC	0.403																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1606-1608)Aac>Gac		CSE1 chromosome segregation 1-like (yeast)							117.0	111.0	114.0					20																	47700686		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47700686A>G	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1606A>G	20.37:g.47700686A>G	ENSP00000262982:p.Asn536Asp					CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D|CSE1L_ENST00000396192.3_Missense_Mutation_p.N480D	p.N536D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		15	1729	+			536					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1606A>G	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888602	0.33348	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.43688	0.94;0.94;0.94	5.61	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.131649	0.64402	D	0.000002	T	0.29389	0.0732	L	0.31065	0.9	0.47547	D	0.999453	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.003	T	0.05716	-1.0868	10	0.13108	T	0.6	-10.0128	12.7828	0.57487	0.863:0.137:0.0:0.0	.	225;319;480;536	F5GX54;B4DUC5;F8W904;P55060	.;.;.;XPO2_HUMAN	D	134;536;319;480	ENSP00000262982:N536D;ENSP00000446477:N319D;ENSP00000379495:N480D	ENSP00000262982:N536D	N	+	1	0	CSE1L	47134093	1.000000	0.71417	0.837000	0.33122	0.834000	0.47266	6.955000	0.76007	0.929000	0.37192	0.482000	0.46254	AAC		0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		7	428	0	0	0	1	0	7	428				
FZD3	7976	broad.mit.edu	37	8	28385340	28385340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385340G>A	ENST00000240093.3	+	5	1541	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.D355N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	355					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AATTGAAGGTGACAATATTAG	0.443																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(1063-1065)Gac>Aac		frizzled family receptor 3							148.0	145.0	146.0					8																	28385340		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385340G>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1063G>A	8.37:g.28385340G>A	ENSP00000240093:p.Asp355Asn					FZD3_ENST00000537916.1_Missense_Mutation_p.D355N	p.D355N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1541	+		Ovarian(32;2.06e-05)	355					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1063G>A	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558480	0.86231	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.85702	-2.02;-2.02	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92821	0.7717	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93866	0.7158	10	0.87932	D	0	.	17.0794	0.86594	0.0:0.0:1.0:0.0	.	355	Q9NPG1	FZD3_HUMAN	N	355	ENSP00000437489:D355N;ENSP00000240093:D355N	ENSP00000240093:D355N	D	+	1	0	FZD3	28441259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.371000	0.80710	0.563000	0.77884	GAC		0.443	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		91	362	0	0	0	1	0	91	362				
FRAS1	80144	broad.mit.edu	37	4	79421054	79421054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79421054C>T	ENST00000264895.6	+	61	9735	c.9295C>T	c.(9295-9297)Cga>Tga	p.R3099*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3095	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCAAAGAGCCGAGTCTTGAA	0.483																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9295-9297)Cga>Tga		Fraser syndrome 1							122.0	116.0	118.0					4																	79421054		1912	4149	6061	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79421054C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9295C>T	4.37:g.79421054C>T	ENSP00000264895:p.Arg3099*						p.R3099*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			61	9735	+			3094			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	c.9295C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.057578|9.057578	0.99051|0.99051	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|.	.|.	.|.	5.91|5.91	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.41650|.	0.1168|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21586|.	-1.0241|.	4|.	.|0.02654	.|T	.|1	.|.	14.9947|14.9947	0.71421|0.71421	0.3824:0.6176:0.0:0.0|0.3824:0.6176:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1327|3099	.|.	.|ENSP00000264895:R3099X	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79640078|79640078	0.982000|0.982000	0.34865|0.34865	0.998000|0.998000	0.56505|0.56505	0.505000|0.505000	0.33919|0.33919	1.505000|1.505000	0.35736|0.35736	0.331000|0.331000	0.23511|0.23511	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				101	373	0	0	0	1	0	101	373				
CACNA1E	777	broad.mit.edu	37	1	181767892	181767892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181767892C>T	ENST00000367573.2	+	48	6864	c.6864C>T	c.(6862-6864)cgC>cgT	p.R2288R	CACNA1E_ENST00000367570.1_Silent_p.R2245R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000526775.1_Silent_p.R2226R|CACNA1E_ENST00000358338.5_Silent_p.R2177R|CACNA1E_ENST00000357570.5_Silent_p.R2239R|CACNA1E_ENST00000367567.4_Silent_p.R1852R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2288	Poly-Arg.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGAGGCGCGGGGGGCCTG	0.647																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6676-6678)cgC>cgT		calcium channel, voltage-dependent, R type, alpha 1E subunit							14.0	17.0	16.0					1																	181767892		1966	4140	6106	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767892C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6864C>T	1.37:g.181767892C>T						CACNA1E_ENST00000367567.4_Silent_p.R1852R|CACNA1E_ENST00000358338.5_Silent_p.R2177R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000367570.1_Silent_p.R2245R|CACNA1E_ENST00000367573.2_Silent_p.R2288R|CACNA1E_ENST00000357570.5_Silent_p.R2239R	p.R2226R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6843	+			2288					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.6678C>T	CCDS55664.1																																																																																				0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		40	91	0	0	0	1	0	40	91				
MRPL39	54148	broad.mit.edu	37	21	26960040	26960040	+	Intron	SNP	G	G	A	rs374029650		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:26960040G>A	ENST00000352957.4	-	9	1011				MRPL39_ENST00000307301.7_Missense_Mutation_p.S344L	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39							mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						GAGGAGGTACGACTCAGGCGA	0.353																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(1030-1032)tCg>tTg		mitochondrial ribosomal protein L39		G	,LEU/SER	0,4406		0,0,2203	79.0	77.0	78.0		,1031	1.5	0.0	21		78	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	MRPL39	NM_017446.3,NM_080794.3	,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,344/354	26960040	1,13005	2203	4300	6503	SO:0001627	intron_variant	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26960040G>A	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.969+1106C>T	21.37:g.26960040G>A						MRPL39_ENST00000352957.4_Intron	p.S344L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			10	1072	-			0					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.1031C>T	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042082	0.35989	0.0	1.16E-4	ENSG00000154719	ENST00000307301	T	0.46451	0.87	2.53	1.55	0.23275	.	2.513340	0.01242	N	0.008659	T	0.14874	0.0359	.	.	.	0.09310	N	1	B	0.34181	0.44	B	0.19666	0.026	T	0.32877	-0.9890	9	0.02654	T	1	-1.1759	3.5033	0.07681	0.2908:0.0:0.7092:0.0	.	344	Q9NYK5-2	.	L	344	ENSP00000305682:S344L	ENSP00000305682:S344L	S	-	2	0	MRPL39	25881911	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.311000	0.19380	0.549000	0.28973	0.655000	0.94253	TCG		0.353	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		5	178	0	0	0	1	0	5	178				
TOPORS	10210	broad.mit.edu	37	9	32541482	32541482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32541482T>G	ENST00000360538.2	-	3	3157	c.3041A>C	c.(3040-3042)aAc>aCc	p.N1014T	TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1014					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGACACAATGTTACTGGGCTG	0.423																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3040-3042)aAc>aCc		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							125.0	122.0	123.0					9																	32541482		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541482T>G	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3041A>C	9.37:g.32541482T>G	ENSP00000353735:p.Asn1014Thr					TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	p.N1014T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3157	-			1014					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3041A>C	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	4.083	0.013251	0.07912	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17528	2.27;2.29	5.61	3.25	0.37280	.	0.126503	0.36134	N	0.002769	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.32781	0.384	B	0.33196	0.159	T	0.22730	-1.0208	10	0.41790	T	0.15	-16.2427	4.8212	0.13392	0.0:0.1625:0.1604:0.6771	.	1014	Q9NS56	TOPRS_HUMAN	T	1014;949	ENSP00000353735:N1014T;ENSP00000369187:N949T	ENSP00000353735:N1014T	N	-	2	0	TOPORS	32531482	0.001000	0.12720	0.125000	0.21846	0.053000	0.15095	0.768000	0.26590	0.488000	0.27723	0.528000	0.53228	AAC		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		93	378	0	0	0	1	0	93	378				
OGFOD3	79701	broad.mit.edu	37	17	80356166	80356166	+	Silent	SNP	C	C	T	rs137991522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80356166C>T	ENST00000313056.5	-	8	880	c.729G>A	c.(727-729)tcG>tcA	p.S243S	OGFOD3_ENST00000329197.5_Silent_p.S243S|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	243	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										GGTACAGCAGCGAGGTGTAGT	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14882	0.0		0.0	False		,,,				2504	0.0					ENST00000313056.5																			0											c.(727-729)tcG>tcA		2-oxoglutarate and iron-dependent oxygenase domain containing 3		C	,	2,4404	4.2+/-10.8	0,2,2201	50.0	45.0	47.0		729,729	-4.5	1.0	17	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C17orf101	NM_024648.2,NM_175902.4	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	243/320,243/332	80356166	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79701							g.chr17:80356166C>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.729G>A	17.37:g.80356166C>T						OGFOD3_ENST00000329197.5_Silent_p.S243S	p.S243S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					8	880	-								C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	c.729G>A	CCDS11811.1																																																																																				0.622	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		48	241	0	0	0	1	0	48	241				
TAS2R10	50839	broad.mit.edu	37	12	10978550	10978550	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10978550A>C	ENST00000240619.2	-	1	407	c.319T>G	c.(319-321)Ttc>Gtc	p.F107V		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	107					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCTTCAGGAAATAGAAGATG	0.343																																						ENST00000240619.2																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(319-321)Ttc>Gtc		taste receptor, type 2, member 10							60.0	65.0	63.0					12																	10978550		2203	4297	6500	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978550A>C	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.319T>G	12.37:g.10978550A>C	ENSP00000240619:p.Phe107Val						p.F107V	NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN			1	407	-			107					Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.319T>G	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422233	0.62622	.	.	ENSG00000121318	ENST00000240619	T	0.39056	1.1	4.67	4.67	0.58626	.	0.232278	0.33235	N	0.005138	T	0.65637	0.2710	M	0.90483	3.12	0.26369	N	0.976916	D	0.64830	0.994	D	0.69479	0.964	T	0.62369	-0.6869	10	0.59425	D	0.04	.	7.9563	0.30045	0.8171:0.0:0.0:0.1829	.	107	Q9NYW0	T2R10_HUMAN	V	107	ENSP00000240619:F107V	ENSP00000240619:F107V	F	-	1	0	TAS2R10	10869817	0.817000	0.29147	1.000000	0.80357	0.959000	0.62525	2.207000	0.42788	1.868000	0.54150	0.482000	0.46254	TTC		0.343	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			48	245	0	0	0	1	0	48	245				
BCL9L	283149	broad.mit.edu	37	11	118773616	118773616	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118773616G>T	ENST00000334801.3	-	6	1800	c.836C>A	c.(835-837)gCc>gAc	p.A279D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	279					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACTTTAGGGGCCTGCAGAAG	0.677																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.e6-1		B-cell CLL/lymphoma 9-like							13.0	16.0	15.0					11																	118773616		2199	4294	6493	SO:0001630	splice_region_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773616G>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.835-1C>A	11.37:g.118773616G>T						BCL9L_ENST00000526143.1_5'UTR	p.A279_splice	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	1800	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	279					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Splice_Site	SNP	ENST00000334801.3	37	c.834_splice	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296060	0.23650	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.65549	-0.16	4.1	2.22	0.28083	.	0.000000	0.44902	D	0.000418	T	0.40473	0.1118	N	0.24115	0.695	0.27323	N	0.956973	P;B	0.35575	0.51;0.376	B;B	0.34931	0.192;0.094	T	0.21552	-1.0242	10	0.17832	T	0.49	-2.3448	6.8377	0.23945	0.2935:0.0:0.7065:0.0	.	274;279	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	D	279;242;279;279	ENSP00000335320:A279D	ENSP00000335320:A279D	A	-	2	0	BCL9L	118278826	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	3.457000	0.53007	0.403000	0.25479	0.305000	0.20034	GCC		0.677	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	Missense_Mutation	18	89	1	0	5.03518e-11	1	5.3609e-11	18	89				
NOVA2	4858	broad.mit.edu	37	19	46443145	46443145	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46443145G>A	ENST00000263257.5	-	4	1649	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	485					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGGGTTTGAGGCCCTCACTC	0.647																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(1453-1455)gcC>gcT		neuro-oncological ventral antigen 2							43.0	46.0	45.0					19																	46443145		2203	4300	6503	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46443145G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1455C>T	19.37:g.46443145G>A							p.A485A	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1649	-		all_neural(266;0.113)|Ovarian(192;0.127)	485					O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.1455C>T	CCDS12679.1																																																																																				0.647	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		64	262	0	0	0	1	0	64	262				
UTP11L	51118	broad.mit.edu	37	1	38483358	38483358	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38483358A>C	ENST00000373014.4	+	3	205	c.144A>C	c.(142-144)caA>caC	p.Q48H	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	48					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTAAAAAACAAGAATACCTCA	0.348																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(142-144)caA>caC		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							58.0	65.0	62.0					1																	38483358		2202	4300	6502	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38483358A>C	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.144A>C	1.37:g.38483358A>C	ENSP00000362105:p.Gln48His					UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H|UTP11L_ENST00000488453.1_3'UTR	p.Q48H	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			3	205	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	48					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.144A>C	CCDS429.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262537	0.59431	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.95	-2.18	0.07037	.	0.050202	0.85682	D	0.000000	T	0.75273	0.3827	M	0.91300	3.195	0.51767	D	0.999934	D	0.54397	0.966	P	0.60345	0.873	T	0.74022	-0.3798	9	0.72032	D	0.01	-0.1329	7.7131	0.28690	0.3306:0.0:0.5414:0.128	.	48	Q9Y3A2	UTP11_HUMAN	H	48	.	ENSP00000362105:Q48H	Q	+	3	2	UTP11L	38255945	1.000000	0.71417	0.965000	0.40720	0.707000	0.40811	0.854000	0.27791	-0.624000	0.05611	-1.937000	0.00501	CAA		0.348	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		30	189	0	0	0	1	0	30	189				
PDLIM2	64236	broad.mit.edu	37	8	22439020	22439020	+	Silent	SNP	G	G	A	rs376478765		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22439020G>A	ENST00000397760.4	+	3	622	c.222G>A	c.(220-222)tcG>tcA	p.S74S	PDLIM2_ENST00000265810.4_Silent_p.S74S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000409141.1_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	74	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGAGCCCCTCGCCCCTGCGGC	0.667																																						ENST00000265810.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(220-222)tcG>tcA		PDZ and LIM domain 2 (mystique)							55.0	50.0	52.0					8																	22439020		2202	4300	6502	SO:0001819	synonymous_variant	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22439020G>A	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.222G>A	8.37:g.22439020G>A						PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S|PDLIM2_ENST00000397760.4_Silent_p.S74S|PDLIM2_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000409141.1_Silent_p.S74S	p.S74S	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	2	337	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	74			PDZ.		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Silent	SNP	ENST00000397760.4	37	c.222G>A																																																																																					0.667	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			15	110	0	0	0	1	0	15	110				
CTC1	80169	broad.mit.edu	37	17	8138511	8138511	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8138511G>T	ENST00000315684.8	-	8	1306	c.1299C>A	c.(1297-1299)agC>agA	p.S433R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	433					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GACGAGAGAAGCTTTGAAGCA	0.627																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1297-1299)agC>agA		CTS telomere maintenance complex component 1							70.0	78.0	75.0					17																	8138511		2057	4192	6249	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138511G>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1299C>A	17.37:g.8138511G>T	ENSP00000313759:p.Ser433Arg						p.S433R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1306	-			433					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1299C>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	8.108	0.778073	0.16120	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83992	-1.79;-1.79	5.04	1.91	0.25777	.	0.493717	0.21165	N	0.079081	T	0.62258	0.2413	N	0.08118	0	0.22562	N	0.998983	B	0.19331	0.035	B	0.19391	0.025	T	0.49466	-0.8937	10	0.29301	T	0.29	-4.9976	5.7604	0.18196	0.0904:0.0:0.5656:0.344	.	433	Q2NKJ3	CTC1_HUMAN	R	433;398	ENSP00000313759:S433R;ENSP00000396018:S398R	ENSP00000313759:S433R	S	-	3	2	CTC1	8079236	0.037000	0.19845	0.363000	0.25875	0.105000	0.19272	0.534000	0.23098	0.291000	0.22468	0.598000	0.82781	AGC		0.627	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		123	482	1	0	5.80419e-74	1	7.3927e-74	123	482				
EBF3	253738	broad.mit.edu	37	10	131640509	131640509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131640509C>T	ENST00000355311.5	-	13	1315	c.1243G>A	c.(1243-1245)Gtt>Att	p.V415I	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.V406I			Q9H4W6	COE3_HUMAN	early B-cell factor 3	415					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGCGGGGAACGCTGTACAGC	0.642																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1216-1218)Gtt>Att		early B-cell factor 3							206.0	171.0	183.0					10																	131640509		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640509C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1243G>A	10.37:g.131640509C>T	ENSP00000347463:p.Val415Ile					EBF3_ENST00000355311.5_Missense_Mutation_p.V415I	p.V406I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1288	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	415					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1216G>A		.	.	.	.	.	.	.	.	.	.	C	18.02	3.531062	0.64972	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.65	5.54	5.54	0.83059	.	0.111763	0.64402	D	0.000012	T	0.50137	0.1598	M	0.69823	2.125	0.53688	D	0.999971	B	0.30937	0.301	B	0.27170	0.077	T	0.46331	-0.9199	10	0.30078	T	0.28	-17.9183	19.8561	0.96761	0.0:1.0:0.0:0.0	.	406	Q9H4W6-2	.	I	415;406	ENSP00000347463:V415I;ENSP00000357637:V406I	ENSP00000347463:V415I	V	-	1	0	EBF3	131530499	1.000000	0.71417	0.971000	0.41717	0.838000	0.47535	6.018000	0.70811	2.776000	0.95493	0.650000	0.86243	GTT		0.642	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		23	860	0	0	0	1	0	23	860				
WNT11	7481	broad.mit.edu	37	11	75907625	75907625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75907625C>T	ENST00000322563.3	-	2	345	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	74					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CATGACCTCGCGGGCGGCGTG	0.627																																						ENST00000322563.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(220-222)cGc>cAc		wingless-type MMTV integration site family, member 11							65.0	65.0	65.0					11																	75907625		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75907625C>T	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.221G>A	11.37:g.75907625C>T	ENSP00000325526:p.Arg74His						p.R74H	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			2	345	-			74					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.221G>A	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118971	0.37436	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76578	-1.03	5.06	5.06	0.68205	.	0.056202	0.64402	D	0.000001	T	0.70996	0.3288	L	0.45698	1.435	0.58432	D	0.999998	B	0.18863	0.031	B	0.18561	0.022	T	0.70048	-0.4979	10	0.72032	D	0.01	.	10.986	0.47523	0.0:0.9146:0.0:0.0854	.	74	O96014	WNT11_HUMAN	H	74	ENSP00000325526:R74H	ENSP00000325526:R74H	R	-	2	0	WNT11	75585273	0.999000	0.42202	0.883000	0.34634	0.010000	0.07245	4.081000	0.57627	2.334000	0.79466	0.655000	0.94253	CGC		0.627	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		105	447	0	0	0	1	0	105	447				
BAI3	577	broad.mit.edu	37	6	69949063	69949063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949063C>T	ENST00000370598.1	+	20	3580	c.2759C>T	c.(2758-2760)tCt>tTt	p.S920F	BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	920					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCTGCCTGTCTATCATCTCA	0.348																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2758-2760)tCt>tTt		brain-specific angiogenesis inhibitor 3							183.0	177.0	179.0					6																	69949063		2203	4298	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949063C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2759C>T	6.37:g.69949063C>T	ENSP00000359630:p.Ser920Phe					BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	p.S920F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			20	3580	+		all_lung(197;0.212)	920					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2759C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722341	0.89298	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55413	0.52;0.52	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.91635	0.996;0.99;0.999	T	0.79366	-0.1833	10	0.87932	D	0	.	18.5605	0.91098	0.0:1.0:0.0:0.0	.	126;920;920	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	F	920;126	ENSP00000359630:S920F;ENSP00000238918:S126F	ENSP00000238918:S126F	S	+	2	0	BAI3	70005784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.362000	0.80069	0.655000	0.94253	TCT		0.348	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			98	521	0	0	0	1	0	98	521				
CCNA1	8900	broad.mit.edu	37	13	37014291	37014291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37014291G>A	ENST00000255465.4	+	6	1333	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000418263.1_Missense_Mutation_p.V356M|CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M			P78396	CCNA1_HUMAN	cyclin A1	357					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCGACAAGGAGTGTGCGTCAG	0.458																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(1066-1068)Gtg>Atg		cyclin A1							141.0	138.0	139.0					13																	37014291		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37014291G>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1069G>A	13.37:g.37014291G>A	ENSP00000255465:p.Val357Met					CCNA1_ENST00000255465.4_Missense_Mutation_p.V357M|CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M	p.V356M	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	6	1416	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	357					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.1066G>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594595	0.66219	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	6.03	6.03	0.97812	Cyclin, C-terminal (1);Cyclin-like (3);	0.165896	0.53938	D	0.000060	T	0.37999	0.1024	L	0.58354	1.805	0.53688	D	0.999974	P;P	0.40602	0.723;0.588	P;P	0.47915	0.561;0.472	T	0.03394	-1.1041	10	0.54805	T	0.06	.	15.6123	0.76737	0.067:0.0:0.933:0.0	.	356;357	P78396-2;P78396	.;CCNA1_HUMAN	M	313;313;356;357	ENSP00000400666:V313M;ENSP00000409873:V313M;ENSP00000396479:V356M;ENSP00000255465:V357M	ENSP00000255465:V357M	V	+	1	0	CCNA1	35912291	1.000000	0.71417	0.952000	0.39060	0.674000	0.39518	5.364000	0.66110	2.868000	0.98415	0.555000	0.69702	GTG		0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		75	502	0	0	0	1	0	75	502				
ITGA3	3675	broad.mit.edu	37	17	48156190	48156190	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48156190T>C	ENST00000320031.8	+	19	2630	c.2300T>C	c.(2299-2301)gTa>gCa	p.V767A	ITGA3_ENST00000007722.7_Missense_Mutation_p.V767A	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	767					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCCCTAGGGTAAATCACCGG	0.557																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2299-2301)gTa>gCa		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							91.0	96.0	94.0					17																	48156190		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156190T>C	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2300T>C	17.37:g.48156190T>C	ENSP00000315190:p.Val767Ala					ITGA3_ENST00000007722.7_Missense_Mutation_p.V767A	p.V767A	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			19	2630	+			767					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2300T>C	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685036	0.29872	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.52057	0.68;0.68	4.53	3.4	0.38934	Integrin alpha-2 (1);	0.842530	0.10865	N	0.625632	T	0.36991	0.0987	L	0.37697	1.125	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.12156	0.007;0.007	T	0.09596	-1.0667	10	0.34782	T	0.22	.	8.3475	0.32281	0.1758:0.0:0.0:0.8242	.	767;767	P26006-1;P26006	.;ITA3_HUMAN	A	767;753;767	ENSP00000007722:V767A;ENSP00000315190:V767A	ENSP00000007722:V767A	V	+	2	0	ITGA3	45511189	0.998000	0.40836	0.992000	0.48379	0.805000	0.45488	1.301000	0.33447	0.830000	0.34757	0.402000	0.26972	GTA		0.557	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		21	623	0	0	0	1	0	21	623				
CCDC158	339965	broad.mit.edu	37	4	77304873	77304873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77304873C>A	ENST00000388914.3	-	6	897	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CCDC158_ENST00000434846.2_Missense_Mutation_p.A249S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	249										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATTTCAGTGCTTCAAGTTGA	0.363																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(745-747)Gca>Tca		coiled-coil domain containing 158							241.0	207.0	218.0					4																	77304873		1839	4086	5925	SO:0001583	missense	339965							g.chr4:77304873C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.745G>T	4.37:g.77304873C>A	ENSP00000373566:p.Ala249Ser					CCDC158_ENST00000434846.2_Missense_Mutation_p.A249S	p.A249S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			6	897	-			249					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.745G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	7.400	0.632564	0.14322	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.32515	1.55;1.45	5.78	0.505	0.16953	.	0.527792	0.17548	N	0.170298	T	0.08179	0.0204	N	0.02539	-0.55	0.22424	N	0.999117	B;B	0.20052	0.041;0.001	B;B	0.15484	0.013;0.003	T	0.32348	-0.9910	10	0.07030	T	0.85	.	3.4218	0.07396	0.2284:0.2999:0.0:0.4717	.	249;249	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	S	249	ENSP00000373566:A249S;ENSP00000401742:A249S	ENSP00000316815:A249S	A	-	1	0	CCDC158	77523897	0.999000	0.42202	0.997000	0.53966	0.901000	0.52897	0.400000	0.20932	0.132000	0.18615	0.650000	0.86243	GCA		0.363	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		59	327	1	0	2.43698e-19	1	2.71768e-19	59	327				
DMD	1756	broad.mit.edu	37	X	31525440	31525440	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31525440T>G	ENST00000357033.4	-	56	8554	c.8348A>C	c.(8347-8349)aAc>aCc	p.N2783T	DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000378707.3_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000359836.1_Missense_Mutation_p.N323T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2783					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCACTTGAAGTTCATGTTATC	0.398																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(8347-8349)aAc>aCc		dystrophin							190.0	155.0	167.0					X																	31525440		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31525440T>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8348A>C	X.37:g.31525440T>G	ENSP00000354923:p.Asn2783Thr					DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000359836.1_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.N323T	p.N2783T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			56	8554	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2783					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8348A>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.78|12.78	2.042040|2.042040	0.35989|0.35989	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.39985	.|U	.|0.001213	T|T	0.71459|0.71459	0.3342|0.3342	M|M	0.78049|0.78049	2.395|2.395	0.42535|0.42535	D|D	0.993054|0.993054	.|B;P;D;B;B;P;P;P;B;B;P	.|0.65815	.|0.216;0.476;0.995;0.145;0.145;0.659;0.553;0.553;0.077;0.063;0.729	.|B;B;D;B;B;P;P;P;B;B;B	.|0.64506	.|0.31;0.1;0.926;0.111;0.111;0.607;0.466;0.466;0.063;0.037;0.413	T|T	0.74884|0.74884	-0.3512|-0.3512	5|10	.|0.52906	.|T	.|0.07	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2775;2783;2779;1442;1439;323;323;323;323;323;2660	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	D|T	511|2775;1442;1439;479;2779;2783;323;323;2783;2660;323;323;323	.|ENSP00000350765:N479T;ENSP00000367948:N2779T;ENSP00000354923:N2783T;ENSP00000352894:N323T;ENSP00000340057:N323T;ENSP00000367979:N323T;ENSP00000444119:N323T;ENSP00000417123:N323T	.|ENSP00000340057:N323T	E|N	-|-	3|2	2|0	DMD|DMD	31435361|31435361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.839000|3.839000	0.55835|0.55835	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	GAA|AAC		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		77	205	0	0	0	1	0	77	205				
MCMBP	79892	broad.mit.edu	37	10	121618597	121618597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121618597A>C	ENST00000360003.3	-	3	410	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.Y81D	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	81					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ACTCCCATGTAAAACTCAGGG	0.343																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(241-243)Tac>Gac		minichromosome maintenance complex binding protein							80.0	77.0	78.0					10																	121618597		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121618597A>C	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.241T>G	10.37:g.121618597A>C	ENSP00000353098:p.Tyr81Asp					MCMBP_ENST00000369077.3_Missense_Mutation_p.Y81D|MCMBP_ENST00000466047.1_5'UTR	p.Y81D	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			3	410	-			81					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.241T>G	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494809	0.85069	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.41	5.41	0.78517	.	0.068023	0.64402	D	0.000010	D	0.83949	0.5365	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.87282	0.2293	9	0.72032	D	0.01	-9.3558	15.4445	0.75220	1.0:0.0:0.0:0.0	.	81	Q9BTE3	MCMBP_HUMAN	D	81	.	ENSP00000353098:Y81D	Y	-	1	0	MCMBP	121608587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.037000	0.60232	0.533000	0.62120	TAC		0.343	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		45	222	0	0	0	1	0	45	222				
BLM	641	broad.mit.edu	37	15	91303942	91303942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91303942G>A	ENST00000355112.3	+	7	1457	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	BLM_ENST00000560509.1_Missense_Mutation_p.G447R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	447	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGCCCTACAGGGAATTCTAT	0.438			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1339-1341)Ggg>Agg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							122.0	125.0	124.0					15																	91303942		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91303942G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1339G>A	15.37:g.91303942G>A	ENSP00000347232:p.Gly447Arg					BLM_ENST00000560509.1_Missense_Mutation_p.G447R	p.G447R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1457	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		447					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.1339G>A	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987362	0.35036	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.47869	0.83	5.83	4.91	0.64330	.	2.117220	0.01426	N	0.014550	T	0.43255	0.1239	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17038	0.002;0.02;0.002	B;B;B	0.12837	0.004;0.008;0.004	T	0.35126	-0.9801	10	0.17369	T	0.5	-10.5917	12.8054	0.57610	0.0:0.1764:0.8236:0.0	.	447;72;447	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	R	447;100	ENSP00000347232:G447R	ENSP00000347232:G447R	G	+	1	0	BLM	89104946	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.501000	0.22578	1.458000	0.47871	0.591000	0.81541	GGG		0.438	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			118	563	0	0	0	1	0	118	563				
MYH4	4622	broad.mit.edu	37	17	10348418	10348418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10348418C>T	ENST00000255381.2	-	37	5451	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1781					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1781T(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGGTGGGCGCTGGTGTCC	0.512																																						ENST00000255381.2																			2	Substitution - Missense(2)	p.A1781T(2)	large_intestine(1)|endometrium(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5341-5343)Gcc>Acc		myosin, heavy chain 4, skeletal muscle							128.0	126.0	126.0					17																	10348418		2203	4298	6501	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348418C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5341G>A	17.37:g.10348418C>T	ENSP00000255381:p.Ala1781Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1781T	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			37	5451	-			1781						Missense_Mutation	SNP	ENST00000255381.2	37	c.5341G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670513	0.67814	.	.	ENSG00000141048	ENST00000255381	T	0.78816	-1.21	5.5	4.53	0.55603	Myosin tail (1);	0.201038	0.23851	N	0.043944	T	0.78984	0.4370	M	0.83118	2.625	0.51012	D	0.999903	P	0.36974	0.576	B	0.34931	0.192	T	0.81335	-0.0979	10	0.56958	D	0.05	.	14.6141	0.68537	0.0:0.9295:0.0:0.0705	.	1781	Q9Y623	MYH4_HUMAN	T	1781	ENSP00000255381:A1781T	ENSP00000255381:A1781T	A	-	1	0	MYH4	10289143	0.985000	0.35326	1.000000	0.80357	0.986000	0.74619	2.462000	0.45049	1.456000	0.47831	0.591000	0.81541	GCC		0.512	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		87	817	0	0	0	1	0	87	817				
DMRTA2	63950	broad.mit.edu	37	1	50885340	50885340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885340G>A	ENST00000404795.3	-	3	1018	c.626C>T	c.(625-627)cCg>cTg	p.P209L	DMRTA2_ENST00000418121.1_Missense_Mutation_p.P209L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	209	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CGGCGGCAGCGGGCTGCCCGG	0.687																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(625-627)cCg>cTg		DMRT-like family A2							5.0	7.0	6.0					1																	50885340		1788	3996	5784	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50885340G>A	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.626C>T	1.37:g.50885340G>A	ENSP00000383909:p.Pro209Leu					DMRTA2_ENST00000418121.1_Missense_Mutation_p.P209L	p.P209L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1018	-			209			Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.626C>T	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904742	0.52333	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.98	3.98	0.46160	.	0.845757	0.10504	N	0.667019	T	0.52581	0.1743	L	0.58810	1.83	0.53688	D	0.99997	D	0.71674	0.998	P	0.58520	0.84	T	0.47471	-0.9115	10	0.39692	T	0.17	-14.0179	15.3449	0.74327	0.0:0.0:1.0:0.0	.	209	Q96SC8	DMTA2_HUMAN	L	209	ENSP00000383909:P209L;ENSP00000399370:P209L	ENSP00000383909:P209L	P	-	2	0	DMRTA2	50657927	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.787000	0.62432	2.194000	0.70268	0.462000	0.41574	CCG		0.687	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		10	48	0	0	0	1	0	10	48				
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23915088C>T	ENST00000382292.3	-	9	3200	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000382298.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	976					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(2926-2928)cGt>cAt		spastic ataxia of Charlevoix-Saguenay (sacsin)							71.0	70.0	70.0					13																	23915088		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915088C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2927G>A	13.37:g.23915088C>T	ENSP00000371729:p.Arg976His					SACS_ENST00000382292.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H	p.R976H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3515	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	976					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2927G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	34	5.356014	0.95854	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.61533	0.89	D	0.89568	0.3811	10	0.39692	T	0.17	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	976	Q9NZJ4	SACS_HUMAN	H	976;226;976	ENSP00000371729:R976H;ENSP00000385844:R226H;ENSP00000371735:R976H	ENSP00000371729:R976H	R	-	2	0	SACS	22813088	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.783000	0.68982	2.878000	0.98634	0.650000	0.86243	CGT		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		63	294	0	0	0	1	0	63	294				
PCDH1	5097	broad.mit.edu	37	5	141243182	141243182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141243182G>A	ENST00000394536.3	-	3	2853	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V|PCDH1_ENST00000287008.3_Missense_Mutation_p.A905V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	905					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCCTTGGAGGCCTTGCCACT	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(2713-2715)gCc>gTc		protocadherin 1							99.0	100.0	100.0					5																	141243182		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243182G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2714C>T	5.37:g.141243182G>A	ENSP00000378043:p.Ala905Val					PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.A905V|PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V|PCDH1_ENST00000503492.1_Intron	p.A905V	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2861	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	905					Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.2714C>T	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	8.032	0.761876	0.15914	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.75	2.83	0.33086	Protocadherin (1);	0.408346	0.20264	N	0.095810	T	0.12646	0.0307	N	0.08118	0	0.29329	N	0.866811	B;B	0.29301	0.183;0.241	B;B	0.27887	0.084;0.037	T	0.06972	-1.0797	10	0.49607	T	0.09	.	2.4986	0.04628	0.1119:0.1948:0.5167:0.1765	.	905;905	Q08174;Q08174-2	PCDH1_HUMAN;.	V	905;905;893;916;883	ENSP00000287008:A905V;ENSP00000378043:A905V;ENSP00000403497:A893V;ENSP00000350122:A916V;ENSP00000438825:A883V	ENSP00000287008:A905V	A	-	2	0	PCDH1	141223366	0.876000	0.30132	1.000000	0.80357	0.988000	0.76386	1.925000	0.40074	1.179000	0.42884	0.457000	0.33378	GCC		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		168	668	0	0	0	1	0	168	668				
CYP4V2	285440	broad.mit.edu	37	4	187130376	187130376	+	Missense_Mutation	SNP	G	G	A	rs149681054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187130376G>A	ENST00000378802.4	+	10	1659	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	452					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACAAGGGCGCCATCCATAT	0.542																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(1354-1356)cGc>cAc		cytochrome P450, family 4, subfamily V, polypeptide 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	105.0	109.0		1355	5.4	1.0	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CYP4V2	NM_207352.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	452/526	187130376	3,13003	2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130376G>A	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1355G>A	4.37:g.187130376G>A	ENSP00000368079:p.Arg452His					CYP4V2_ENST00000502665.1_3'UTR	p.R452H	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	10	1659	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	452					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1355G>A	CCDS34119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.899179|4.899179	0.91962|0.91962	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000164344|ENSG00000145476	ENST00000511608|ENST00000378802;ENST00000274118	.|T	.|0.70869	.|-0.52	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.053681	.|0.64402	.|D	.|0.000001	D|D	0.87293|0.87293	0.6141|0.6141	M|M	0.89030|0.89030	3|3	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.88965|0.88965	0.3396|0.3396	5|10	.|0.87932	.|D	.|0	.|.	19.34|19.34	0.94337|0.94337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|452	.|Q6ZWL3	.|CP4V2_HUMAN	T|H	51|452;430	.|ENSP00000368079:R452H	.|ENSP00000274118:R430H	A|R	+|+	1|2	0|0	KLKB1|CYP4V2	187367370|187367370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.630000|0.630000	0.37929|0.37929	8.847000|8.847000	0.92166|0.92166	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.542	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		49	488	0	0	0	1	0	49	488				
BAIAP3	8938	broad.mit.edu	37	16	1396176	1396176	+	Silent	SNP	C	C	T	rs115798223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1396176C>T	ENST00000324385.5	+	25	2570	c.2412C>T	c.(2410-2412)tgC>tgT	p.C804C	BAIAP3_ENST00000397489.1_Silent_p.C786C|BAIAP3_ENST00000426824.3_Silent_p.C769C|BAIAP3_ENST00000421665.2_Silent_p.C733C|BAIAP3_ENST00000568887.1_Silent_p.C741C|BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000397488.2_Silent_p.C786C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	804					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCAGCTCTGCGTGGTCCTCA	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		16770	0.0		0.001	False		,,,				2504	0.0					ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2410-2412)tgC>tgT		BAI1-associated protein 3		C	,,,,	0,4388		0,0,2194	25.0	28.0	27.0		2199,2307,2238,2223,2412	-3.0	1.0	16	dbSNP_132	27	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	,,,,	733/1117,769/1153,746/1130,741/1125,804/1188	1396176	1,12985	2194	4299	6493	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1396176C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2412C>T	16.37:g.1396176C>T						BAIAP3_ENST00000426824.3_Silent_p.C769C|BAIAP3_ENST00000421665.2_Silent_p.C733C|BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000397489.1_Silent_p.C786C|BAIAP3_ENST00000397488.2_Silent_p.C786C|BAIAP3_ENST00000568887.1_Silent_p.C741C	p.C804C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			25	2570	+		Hepatocellular(780;0.0893)	804					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.2412C>T	CCDS10434.1																																																																																				0.711	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			23	169	0	0	0	1	0	23	169				
AP1B1	162	broad.mit.edu	37	22	29727889	29727889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29727889C>T	ENST00000405198.1	-	17	2357	c.2326G>A	c.(2326-2328)Gcc>Acc	p.A776T	AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T|AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|AP1B1_ENST00000357586.2_Missense_Mutation_p.A776T|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|SNORD125_ENST00000459538.1_RNA			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	776					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGGGGGTGGCGGGGGCCAGG	0.667																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2326-2328)Gcc>Acc		adaptor-related protein complex 1, beta 1 subunit							31.0	33.0	33.0					22																	29727889		2202	4300	6502	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29727889C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2326G>A	22.37:g.29727889C>T	ENSP00000384194:p.Ala776Thr					AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|AP1B1_ENST00000405198.1_Missense_Mutation_p.A776T|AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T	p.A776T	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			18	2512	-			776					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2326G>A	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842665	0.32606	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.58	3.57	0.40892	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.098822	0.64402	N	0.000001	T	0.48132	0.1483	M	0.76002	2.32	0.80722	D	1	B;B;B;B;B	0.19073	0.028;0.005;0.005;0.033;0.012	B;B;B;B;B	0.19946	0.027;0.013;0.013;0.021;0.013	T	0.49570	-0.8926	10	0.44086	T	0.13	-20.8288	12.3414	0.55095	0.0:0.917:0.0:0.083	.	329;749;769;776;769	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	T	776;769;769;776;749;769;769	ENSP00000350199:A776T;ENSP00000348297:A769T;ENSP00000400065:A769T;ENSP00000384194:A776T;ENSP00000319361:A749T;ENSP00000386071:A769T;ENSP00000387612:A769T	ENSP00000319361:A749T	A	-	1	0	AP1B1	28057889	0.986000	0.35501	1.000000	0.80357	0.013000	0.08279	2.087000	0.41653	1.167000	0.42706	-0.258000	0.10820	GCC		0.667	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		61	248	0	0	0	1	0	61	248				
API5	8539	broad.mit.edu	37	11	43345158	43345158	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345158G>A	ENST00000531273.1	+	6	861	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	API5_ENST00000455725.2_Missense_Mutation_p.C230Y|API5_ENST00000420461.2_Missense_Mutation_p.C187Y|API5_ENST00000378852.3_Missense_Mutation_p.C241Y|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.C241Y			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	241	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTCTTACAGTGCACTCGGCAG	0.458																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(721-723)tGc>tAc		apoptosis inhibitor 5							137.0	135.0	136.0					11																	43345158		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43345158G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.722G>A	11.37:g.43345158G>A	ENSP00000431391:p.Cys241Tyr					API5_ENST00000534600.1_Missense_Mutation_p.C241Y|API5_ENST00000455725.2_Missense_Mutation_p.C230Y|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Missense_Mutation_p.C241Y|API5_ENST00000420461.2_Missense_Mutation_p.C187Y	p.C241Y	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			6	847	+			241					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.722G>A	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897170	0.91962	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.67625	2.065	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.999	T	0.60919	-0.7167	10	0.62326	D	0.03	-13.4804	19.6343	0.95724	0.0:0.0:1.0:0.0	.	187;241;230;241;241	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	Y	230;241;187;241;241;91	ENSP00000399341:C230Y;ENSP00000431391:C241Y;ENSP00000402540:C187Y;ENSP00000368129:C241Y;ENSP00000434462:C241Y;ENSP00000436436:C91Y	ENSP00000368129:C241Y	C	+	2	0	API5	43301734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	TGC		0.458	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		59	736	0	0	0	1	0	59	736				
TTC21B	79809	broad.mit.edu	37	2	166805950	166805950	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166805950A>G	ENST00000243344.7	-	3	353	c.216T>C	c.(214-216)tgT>tgC	p.C72C	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	72					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGTAGAGAACAAAGTGATA	0.299																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(214-216)tgT>tgC		tetratricopeptide repeat domain 21B							125.0	140.0	135.0					2																	166805950		2203	4299	6502	SO:0001819	synonymous_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166805950A>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.216T>C	2.37:g.166805950A>G						AC010127.5_ENST00000440322.1_RNA	p.C72C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			3	353	-			72					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	c.216T>C	CCDS33315.1																																																																																				0.299	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		49	683	0	0	0	1	0	49	683				
GDF5OS	554250	broad.mit.edu	37	20	34022620	34022620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34022620C>T	ENST00000374375.1	+	2	1106	c.664C>T	c.(664-666)Cca>Tca	p.P222S	GDF5_ENST00000374372.1_Intron|GDF5_ENST00000374369.3_Intron			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	222						mitochondrion (GO:0005739)				cervix(1)|endometrium(4)|lung(4)	9						TGCAACCTCACCAAGGGAGCC	0.572																																						ENST00000374375.1																			0				cervix(1)|endometrium(4)|lung(4)	9						c.(664-666)Cca>Tca									57.0	62.0	61.0					20																	34022620		2201	4297	6498	SO:0001583	missense	0							g.chr20:34022620C>T	BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.664C>T	20.37:g.34022620C>T	ENSP00000363495:p.Pro222Ser					GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron	p.P222S							2	1106	+								A6PVI8	Missense_Mutation	SNP	ENST00000374375.1	37	c.664C>T		.	.	.	.	.	.	.	.	.	.	C	3.161	-0.172078	0.06421	.	.	ENSG00000204183	ENST00000374375	.	.	.	4.75	0.259	0.15583	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.20489	N	0.999895	.	.	.	.	.	.	T	0.36890	-0.9729	5	0.87932	D	0	.	4.0778	0.09912	0.0:0.4404:0.2064:0.3532	.	.	.	.	S	222	.	ENSP00000363495:P222S	P	+	1	0	GDF5OS	33486034	0.000000	0.05858	0.559000	0.28332	0.521000	0.34408	0.055000	0.14229	0.210000	0.20664	0.561000	0.74099	CCA		0.572	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000125987.3			103	449	0	0	0	1	0	103	449				
NODAL	4838	broad.mit.edu	37	10	72195385	72195385	+	Missense_Mutation	SNP	C	C	T	rs104894169	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72195385C>T	ENST00000287139.3	-	2	547	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	AC022532.1_ENST00000420338.2_Missense_Mutation_p.P111L	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	183			R -> Q (in HTX5; dbSNP:rs104894169). {ECO:0000269|PubMed:9354794}.		axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TGTGGGGGGCCGCGGCCAGCA	0.632													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17564	0.0		0.0	False		,,,				2504	0.0					ENST00000420338.2																			0						GRCh37	CM971053	NODAL	M	rs104894169	c.(331-333)cCg>cTg				C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	30.0	32.0	32.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	548	-8.3	0.0	10	dbSNP_132	32	0,8600		0,0,4300	no	missense	NODAL	NM_018055.4	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	183/348	72195385	3,13003	2203	4300	6503	SO:0001583	missense	0							g.chr10:72195385C>T	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.548G>A	10.37:g.72195385C>T	ENSP00000287139:p.Arg183Gln					NODAL_ENST00000287139.3_Missense_Mutation_p.R183Q	p.P111L							1	801	+								Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.332C>T	CCDS7304.1	4|4	0.0018315018315018315|0.0018315018315018315	2|2	0.0040650406504065045|0.0040650406504065045	1|1	0.0027624309392265192|0.0027624309392265192	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	7.533|7.533	0.659011|0.659011	0.14645|0.14645	6.81E-4|6.81E-4	0.0|0.0	ENSG00000197604|ENSG00000156574	ENST00000420338|ENST00000287139;ENST00000414871	.|D;D	.|0.84146	.|-1.8;-1.81	5.88|5.88	-8.31|-8.31	0.01001|0.01001	.|.	.|0.620051	.|0.16185	.|N	.|0.225677	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	A|A	9.3728e-12|9.3728e-12	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.50634|0.50634	-0.8805|-0.8805	5|8	0.87932|.	D|.	0|.	.|.	6.8381|6.8381	0.23947|0.23947	0.0877:0.1167:0.1728:0.6229|0.0877:0.1167:0.1728:0.6229	.|.	.|183	.|Q96S42	.|NODAL_HUMAN	L|Q	111|183;128	.|ENSP00000287139:R183Q;ENSP00000394468:R128Q	ENSP00000411125:P111L|.	P|R	+|-	2|2	0|0	AC022532.1|NODAL	71865391|71865391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-1.428000|-1.428000	0.02439|0.02439	-2.063000|-2.063000	0.00890|0.00890	-0.137000|-0.137000	0.14449|0.14449	CCG|CGG		0.632	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		7	258	0	0	0	1	0	7	258				
PCDHB1	29930	broad.mit.edu	37	5	140432001	140432001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140432001G>A	ENST00000306549.3	+	1	1023	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACATACGACATTGACAT	0.463																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(946-948)Gac>Aac									116.0	113.0	114.0					5																	140432001		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432001G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.946G>A	5.37:g.140432001G>A	ENSP00000307234:p.Asp316Asn						p.D316N	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1023	+			316			Cadherin 3.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.946G>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957179	0.53293	.	.	ENSG00000171815	ENST00000306549	T	0.01725	4.67	6.17	5.3	0.74995	Cadherin (5);Cadherin-like (1);	0.000000	0.49916	D	0.000133	T	0.01222	0.0040	N	0.01522	-0.82	0.36095	D	0.843752	D	0.53151	0.958	P	0.46275	0.51	T	0.74569	-0.3622	10	0.33940	T	0.23	.	13.4394	0.61104	0.1218:0.0:0.8782:0.0	.	316	Q9Y5F3	PCDB1_HUMAN	N	316	ENSP00000307234:D316N	ENSP00000307234:D316N	D	+	1	0	PCDHB1	140412185	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	3.633000	0.54295	2.941000	0.99782	0.655000	0.94253	GAC		0.463	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		81	407	0	0	0	1	0	81	407				
DIP2C	22982	broad.mit.edu	37	10	395334	395334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395334C>T	ENST00000280886.6	-	25	3133	c.3046G>A	c.(3046-3048)Gtg>Atg	p.V1016M		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1016						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATCACGGCGATCTTC	0.617																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3046-3048)Gtg>Atg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							118.0	87.0	97.0					10																	395334		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:395334C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3046G>A	10.37:g.395334C>T	ENSP00000280886:p.Val1016Met						p.V1016M	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	25	3133	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1016					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3046G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248310	0.59103	.	.	ENSG00000151240	ENST00000280886	T	0.40756	1.02	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.128780	0.53938	D	0.000058	T	0.37999	0.1024	L	0.27053	0.805	0.80722	D	1	P	0.38992	0.653	B	0.42112	0.376	T	0.11966	-1.0566	10	0.31617	T	0.26	-26.3503	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1016	Q9Y2E4	DIP2C_HUMAN	M	1016	ENSP00000280886:V1016M	ENSP00000280886:V1016M	V	-	1	0	DIP2C	385334	1.000000	0.71417	0.982000	0.44146	0.387000	0.30353	4.918000	0.63376	2.409000	0.81822	0.563000	0.77884	GTG		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		43	263	0	0	0	1	0	43	263				
ARHGAP5	394	broad.mit.edu	37	14	32560065	32560065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560065G>T	ENST00000345122.3	+	2	505	c.190G>T	c.(190-192)Gga>Tga	p.G64*	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	64					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGACTTTGGAGGACGAGTAGT	0.368																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(190-192)Gga>Tga		Rho GTPase activating protein 5							137.0	133.0	134.0					14																	32560065		2203	4300	6503	SO:0001587	stop_gained	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560065G>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.190G>T	14.37:g.32560065G>T	ENSP00000371897:p.Gly64*					ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*	p.G64*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	505	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		64					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	c.190G>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055869	0.76074	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000371897:G64X	G	+	1	0	ARHGAP5	31629816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	GGA		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		87	521	1	0	7.69131e-47	1	9.45669e-47	87	521				
SLC2A9	56606	broad.mit.edu	37	4	9998463	9998463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9998463C>T	ENST00000264784.3	-	3	405	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	SLC2A9_ENST00000506583.1_Missense_Mutation_p.A89T|SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	118					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCACCGATGGCGAATATGGAC	0.498																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(265-267)Gcc>Acc		solute carrier family 2 (facilitated glucose transporter), member 9							128.0	109.0	115.0					4																	9998463		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9998463C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.352G>A	4.37:g.9998463C>T	ENSP00000264784:p.Ala118Thr					SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T|SLC2A9_ENST00000264784.3_Missense_Mutation_p.A118T	p.A89T			Q9NRM0	GTR9_HUMAN			5	482	-			118					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.265G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348115	0.82132	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;D;T;T	0.81499	-0.84;-1.5;-0.84;-0.84	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.184799	0.47093	D	0.000259	D	0.85008	0.5599	L	0.46885	1.475	0.38926	D	0.95783	P;D	0.62365	0.95;0.991	P;D	0.65684	0.643;0.937	D	0.84646	0.0698	9	.	.	.	.	14.7852	0.69796	0.0:1.0:0.0:0.0	.	89;118	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	T	89;118;89;89	ENSP00000422209:A89T;ENSP00000264784:A118T;ENSP00000311383:A89T;ENSP00000426800:A89T	.	A	-	1	0	SLC2A9	9607561	0.995000	0.38212	0.993000	0.49108	0.958000	0.62258	1.740000	0.38228	2.643000	0.89663	0.644000	0.83932	GCC		0.498	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			62	291	0	0	0	1	0	62	291				
ZNF662	389114	broad.mit.edu	37	3	42956441	42956441	+	Silent	SNP	G	G	A	rs369433622		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956441G>A	ENST00000541208.1	+	5	1245	c.876G>A	c.(874-876)acG>acA	p.T292T	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Silent_p.T318T|ZNF662_ENST00000440367.2_Silent_p.T292T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAGCCTTACGCAACATCAAC	0.453																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(874-876)acG>acA		zinc finger protein 662		G	,	1,4405	2.1+/-5.4	0,1,2202	103.0	91.0	95.0		954,876	0.5	1.0	3		95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF662	NM_001134656.1,NM_207404.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	318/453,292/427	42956441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956441G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.876G>A	3.37:g.42956441G>A						ZNF662_ENST00000328199.6_Silent_p.T318T|ZNF662_ENST00000440367.2_Silent_p.T292T|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.T292T			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1245	+			292					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Silent	SNP	ENST00000541208.1	37	c.876G>A	CCDS2708.1																																																																																				0.453	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		53	248	0	0	0	1	0	53	248				
TMEM57	55219	broad.mit.edu	37	1	25815742	25815742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25815742G>A	ENST00000374343.4	+	9	1754	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	TMEM57_ENST00000399766.3_Silent_p.K298K|TMEM57_ENST00000399763.3_Silent_p.K167K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	525					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACATGAAGGTGAAAGAAG	0.423																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1573-1575)aaG>aaA		transmembrane protein 57							107.0	107.0	107.0					1																	25815742		2203	4300	6503	SO:0001819	synonymous_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25815742G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1575G>A	1.37:g.25815742G>A						TMEM57_ENST00000399766.3_Silent_p.K298K|TMEM57_ENST00000399763.3_Silent_p.K167K	p.K525K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	9	1754	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	525					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	37	c.1575G>A	CCDS30638.1																																																																																				0.423	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		47	151	0	0	0	1	0	47	151				
TTN	7273	broad.mit.edu	37	2	179411070	179411070	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179411070G>T	ENST00000591111.1	-	292	90289	c.90065C>A	c.(90064-90066)tCt>tAt	p.S30022Y	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31663Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30022	Ig-like 136.				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)			ATACTGCAAAGAGACTTTTTC	0.448																																						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.(94987-94989)tCt>tAt		titin							158.0	155.0	156.0					2																	179411070		1935	4135	6070	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411070G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90065C>A	2.37:g.179411070G>T	ENSP00000465570:p.Ser30022Tyr					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30022Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.S31663Y	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)		342	95212	-			30022			Fibronectin type-III 130.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.94988C>A		.	.	.	.	.	.	.	.	.	.	G	17.58	3.424982	0.62733	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82646	0.5082	M	0.75447	2.3	0.46521	D	0.999088	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	D	0.83925	0.0303	9	0.87932	D	0	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	22598;22723;22790;30022	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	29095;22598;22790;22723;22595	ENSP00000343764:S29095Y;ENSP00000434586:S22598Y;ENSP00000340554:S22790Y;ENSP00000352154:S22723Y	ENSP00000340554:S22790Y	S	-	2	0	TTN	179119316	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.545000	0.73883	2.657000	0.90304	0.655000	0.94253	TCT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		183	547	1	0	2.18101e-91	1	2.80073e-91	183	547				
NXPE2	120406	broad.mit.edu	37	11	114569326	114569326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114569326G>A	ENST00000389586.4	+	3	882	c.692G>A	c.(691-693)tGt>tAt	p.C231Y	NXPE2_ENST00000375475.5_Missense_Mutation_p.C231Y	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	231						integral component of membrane (GO:0016021)											TTCACTGAATGTGGCCTGACC	0.498																																						ENST00000375475.5																			0											c.(691-693)tGt>tAt		neurexophilin and PC-esterase domain family, member 2							91.0	82.0	85.0					11																	114569326		692	1591	2283	SO:0001583	missense	120406							g.chr11:114569326G>A	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.692G>A	11.37:g.114569326G>A	ENSP00000374237:p.Cys231Tyr					NXPE2_ENST00000389586.4_Missense_Mutation_p.C231Y	p.C231Y							3	790	+								Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.692G>A	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943844	0.73672	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.33865	1.99;1.39	4.55	3.63	0.41609	.	0.000000	0.64402	D	0.000005	T	0.66446	0.2790	H	0.95679	3.705	0.46458	D	0.999052	D	0.59357	0.985	P	0.62560	0.904	T	0.74928	-0.3497	10	0.66056	D	0.02	.	11.7228	0.51691	0.0:0.0:0.8222:0.1778	.	231	Q96DL1	FA55B_HUMAN	Y	231	ENSP00000374237:C231Y;ENSP00000364624:C231Y	ENSP00000364624:C231Y	C	+	2	0	FAM55B	114074536	1.000000	0.71417	0.695000	0.30226	0.478000	0.33099	3.379000	0.52440	0.890000	0.36211	0.591000	0.81541	TGT		0.498	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		15	254	0	0	0	1	0	15	254				
FEM1A	55527	broad.mit.edu	37	19	4793050	4793050	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793050A>G	ENST00000269856.3	+	1	1323	c.1184A>G	c.(1183-1185)tAc>tGc	p.Y395C	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	395					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TACATCCGTTACAGGGGTGCC	0.617																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1183-1185)tAc>tGc		fem-1 homolog a (C. elegans)							50.0	48.0	49.0					19																	4793050		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793050A>G	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1184A>G	19.37:g.4793050A>G	ENSP00000269856:p.Tyr395Cys					AC005523.2_ENST00000601192.1_RNA	p.Y395C	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1323	+		Hepatocellular(1079;0.137)	395					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1184A>G	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163560	0.57476	.	.	ENSG00000141965	ENST00000269856	T	0.63580	-0.05	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000002	T	0.81740	0.4886	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84247	0.0475	10	0.42905	T	0.14	-24.2112	14.4967	0.67694	1.0:0.0:0.0:0.0	.	395	Q9BSK4	FEM1A_HUMAN	C	395	ENSP00000269856:Y395C	ENSP00000269856:Y395C	Y	+	2	0	FEM1A	4744050	1.000000	0.71417	0.965000	0.40720	0.538000	0.34931	9.119000	0.94362	1.824000	0.53156	0.402000	0.26972	TAC		0.617	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			104	417	0	0	0	1	0	104	417				
EIF5B	9669	broad.mit.edu	37	2	100011029	100011029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100011029A>G	ENST00000289371.6	+	20	3272	c.3070A>G	c.(3070-3072)Atg>Gtg	p.M1024V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1024					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCTTCAGTGATGTTGGAACA	0.368																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3070-3072)Atg>Gtg		eukaryotic translation initiation factor 5B							201.0	188.0	192.0					2																	100011029		1889	4107	5996	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100011029A>G	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3070A>G	2.37:g.100011029A>G	ENSP00000289371:p.Met1024Val						p.M1024V	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			20	3272	+			1024					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.3070A>G	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247902	0.80024	.	.	ENSG00000158417	ENST00000289371	T	0.40476	1.03	5.68	5.68	0.88126	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.59473	0.2196	L	0.58302	1.8	0.80722	D	1	D	0.61080	0.989	D	0.65684	0.937	T	0.57866	-0.7737	8	.	.	.	-26.622	15.9398	0.79745	1.0:0.0:0.0:0.0	.	1024	O60841	IF2P_HUMAN	V	1024	ENSP00000289371:M1024V	.	M	+	1	0	EIF5B	99377461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.099000	0.94207	2.152000	0.67230	0.523000	0.50628	ATG		0.368	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		274	798	0	0	0	1	0	274	798				
TBC1D3P5	440419	broad.mit.edu	37	17	25748146	25748146	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25748146G>A	ENST00000586223.1	+	0	533					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GGAACTGCCCGGTCAGAGCCC	0.627																																						ENST00000586223.1																			0																																																			0							g.chr17:25748146G>A			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25748146G>A								NR_033892.1						0	533	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.627	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		22	70	0	0	0	1	0	22	70				
ZNF235	9310	broad.mit.edu	37	19	44792320	44792320	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44792320C>A	ENST00000291182.4	-	5	1370	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AGTGTGAATTCTTTCATGGGC	0.423																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1267-1269)aGa>aTa		zinc finger protein 235							88.0	86.0	87.0					19																	44792320		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792320C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1268G>T	19.37:g.44792320C>A	ENSP00000291182:p.Arg423Ile					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.R423I	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	1370	-		Prostate(69;0.0352)|all_neural(266;0.116)	423					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1268G>T	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940732	0.52972	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.24908	1.83	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000853	T	0.46014	0.1371	M	0.64170	1.965	0.46725	D	0.999174	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.40553	-0.9557	10	0.52906	T	0.07	.	12.5135	0.56019	0.0:0.8298:0.1702:0.0	.	419;423	Q14590-2;Q14590	.;ZN235_HUMAN	I	423;423;345	ENSP00000291182:R423I	ENSP00000291182:R423I	R	-	2	0	ZNF235	49484160	0.000000	0.05858	0.967000	0.41034	0.920000	0.55202	-0.039000	0.12124	2.233000	0.73108	0.462000	0.41574	AGA		0.423	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			16	446	1	0	5.01169e-05	1	5.1097e-05	16	446				
GAS2L3	283431	broad.mit.edu	37	12	101017514	101017514	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017514A>C	ENST00000539410.1	+	9	1317	c.931A>C	c.(931-933)Aca>Cca	p.T311P	GAS2L3_ENST00000537247.1_Missense_Mutation_p.T207P|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	311					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCCAGAACACCTCAGCC	0.383																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(619-621)Aca>Cca		growth arrest-specific 2 like 3							51.0	53.0	53.0					12																	101017514		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017514A>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.931A>C	12.37:g.101017514A>C	ENSP00000439672:p.Thr311Pro					GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P|GAS2L3_ENST00000539410.1_Missense_Mutation_p.T311P	p.T207P			Q86XJ1	GA2L3_HUMAN			10	1573	+			311					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.619A>C	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066624	0.36470	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26518	1.76;1.76;1.73;1.76	5.71	3.21	0.36854	.	0.419651	0.27189	N	0.020505	T	0.22244	0.0536	L	0.54323	1.7	0.34191	D	0.672037	B	0.17038	0.02	B	0.17722	0.019	T	0.18147	-1.0346	10	0.29301	T	0.29	-10.0264	8.3763	0.32445	0.7994:0.1318:0.0688:0.0	.	311	Q86XJ1	GA2L3_HUMAN	P	311;311;207;311	ENSP00000266754:T311P;ENSP00000448955:T311P;ENSP00000442406:T207P;ENSP00000439672:T311P	ENSP00000266754:T311P	T	+	1	0	GAS2L3	99541645	0.984000	0.35163	1.000000	0.80357	0.784000	0.44337	1.268000	0.33062	0.987000	0.38709	0.533000	0.62120	ACA		0.383	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		33	368	0	0	0	1	0	33	368				
PXDN	7837	broad.mit.edu	37	2	1667419	1667419	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1667419C>A	ENST00000252804.4	-	12	1575	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	509	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCTGGGAGCCGATGATGTTG	0.567																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1525-1527)Ggc>Tgc		peroxidasin homolog (Drosophila)							89.0	96.0	93.0					2																	1667419		2032	4168	6200	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1667419C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1525G>T	2.37:g.1667419C>A	ENSP00000252804:p.Gly509Cys						p.G509C	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	12	1575	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	509			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1525G>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012209	0.93346	.	.	ENSG00000130508	ENST00000252804	T	0.50813	0.73	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111519	0.64402	D	0.000009	D	0.83949	0.5365	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90698	0.4618	10	0.87932	D	0	-55.7987	20.0263	0.97523	0.0:1.0:0.0:0.0	.	509;509	Q92626-2;Q92626	.;PXDN_HUMAN	C	509	ENSP00000252804:G509C	ENSP00000252804:G509C	G	-	1	0	PXDN	1646426	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	7.552000	0.82192	2.735000	0.93741	0.655000	0.94253	GGC		0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		89	506	1	0	5.5301e-39	1	6.67972e-39	89	506				
LFNG	3955	broad.mit.edu	37	7	2559814	2559814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2559814G>A	ENST00000222725.5	+	1	339	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LFNG_ENST00000402045.1_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	107					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gcgccccctggccgagccgct	0.731																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(319-321)Gcc>Acc		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							6.0	7.0	7.0					7																	2559814		1719	3782	5501	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2559814G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.319G>A	7.37:g.2559814G>A	ENSP00000222725:p.Ala107Thr					LFNG_ENST00000402045.1_Intron|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T|LFNG_ENST00000402506.1_Intron	p.A107T	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	1	339	+		Ovarian(82;0.0112)	107					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.319G>A	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.867809	0.32977	.	.	ENSG00000106003	ENST00000222725;ENST00000359574	T;T	0.59364	0.59;0.27	3.89	0.404	0.16355	.	0.441173	0.23821	N	0.044222	T	0.42291	0.1196	L	0.47716	1.5	0.80722	D	1	P;B	0.40476	0.718;0.031	B;B	0.39258	0.295;0.006	T	0.23904	-1.0175	10	0.12766	T	0.61	-0.2127	7.8891	0.29667	0.1058:0.3088:0.5854:0.0	.	107;107	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	T	107	ENSP00000222725:A107T;ENSP00000352579:A107T	ENSP00000222725:A107T	A	+	1	0	LFNG	2526340	1.000000	0.71417	0.481000	0.27354	0.663000	0.39108	2.938000	0.48987	0.624000	0.30286	-0.247000	0.11927	GCC		0.731	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		27	108	0	0	0	1	0	27	108				
OR6C1	390321	broad.mit.edu	37	12	55714983	55714983	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55714983T>G	ENST00000379668.2	+	1	638	c.600T>G	c.(598-600)tgT>tgG	p.C200W		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GATTTTCTTGTGCTGCGTTTA	0.348																																						ENST00000379668.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(598-600)tgT>tgG		olfactory receptor, family 6, subfamily C, member 1							94.0	82.0	86.0					12																	55714983		2202	4300	6502	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714983T>G	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.600T>G	12.37:g.55714983T>G	ENSP00000368990:p.Cys200Trp						p.C200W	NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN			1	638	+			200					B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.600T>G	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	t	7.293	0.611552	0.14066	.	.	ENSG00000205330	ENST00000379668	T	0.00099	8.73	4.77	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	0.546234	0.18482	N	0.139892	T	0.00144	0.0004	L	0.49778	1.585	0.32672	N	0.516688	B	0.02656	0.0	B	0.12837	0.008	T	0.23797	-1.0178	10	0.54805	T	0.06	.	7.4666	0.27324	0.0:0.1527:0.5104:0.3369	.	200	Q96RD1	OR6C1_HUMAN	W	200	ENSP00000368990:C200W	ENSP00000368990:C200W	C	+	3	2	OR6C1	54001250	0.000000	0.05858	0.233000	0.24025	0.710000	0.40934	-2.652000	0.00856	-0.226000	0.09899	0.460000	0.39030	TGT		0.348	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		44	214	0	0	0	1	0	44	214				
NCAN	1463	broad.mit.edu	37	19	19344688	19344688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19344688G>A	ENST00000252575.6	+	9	3209	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCAN_ENST00000538881.1_Missense_Mutation_p.G488D|RNU6-1028P_ENST00000517164.1_RNA	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1037	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TGTGATCAGGGCTTCGCCGGG	0.517																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3109-3111)gGc>gAc		neurocan							146.0	110.0	122.0					19																	19344688		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19344688G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3110G>A	19.37:g.19344688G>A	ENSP00000252575:p.Gly1037Asp					NCAN_ENST00000538881.1_Missense_Mutation_p.G488D	p.G1037D	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		9	3153	+			1037			EGF-like 1.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3110G>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443611	0.83993	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.98192	-3.78;-4.78	4.73	4.73	0.59995	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38720	N	0.001585	D	0.98924	0.9635	M	0.86178	2.8	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99342	1.0912	10	0.87932	D	0	.	15.5873	0.76495	0.0:0.0:1.0:0.0	.	1051;1037	Q4LE67;O14594	.;NCAN_HUMAN	D	1051;1037;488	ENSP00000252575:G1037D;ENSP00000442202:G488D	ENSP00000252575:G1037D	G	+	2	0	NCAN	19205688	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	8.872000	0.92352	2.627000	0.88993	0.563000	0.77884	GGC		0.517	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		62	280	0	0	0	1	0	62	280				
ABCA10	10349	broad.mit.edu	37	17	67215738	67215738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67215738C>A	ENST00000269081.4	-	7	1387	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	160					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTAAATTTTCCTCTTTCCCTT	0.318																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(478-480)Gga>Tga		ATP-binding cassette, sub-family A (ABC1), member 10							59.0	65.0	63.0					17																	67215738		2203	4298	6501	SO:0001587	stop_gained	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67215738C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.478G>T	17.37:g.67215738C>A	ENSP00000269081:p.Gly160*					ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	p.G160*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			7	1387	-	Breast(10;6.95e-12)		160					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	c.478G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	37	6.326935	0.97476	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.73	0.093	0.14474	.	0.456322	0.15526	U	0.257796	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.9642	0.09424	0.0:0.2211:0.371:0.408	.	.	.	.	X	160	.	ENSP00000269081:G160X	G	-	1	0	ABCA10	64727333	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.211000	0.10124	-1.328000	0.01277	GGA		0.318	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		71	265	1	0	9.4991e-31	1	1.11549e-30	71	265				
WIF1	11197	broad.mit.edu	37	12	65461485	65461485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65461485G>A	ENST00000286574.4	-	5	998	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	208	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTTCTCACAGTGAGGTCCGT	0.507			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(622-624)caC>caT		WNT inhibitory factor 1							101.0	86.0	91.0					12																	65461485		2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461485G>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.624C>T	12.37:g.65461485G>A							p.H208H	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	998	-			208			EGF-like 1.		Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.624C>T	CCDS8971.1																																																																																				0.507	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			34	152	0	0	0	1	0	34	152				
OXNAD1	92106	broad.mit.edu	37	3	16343174	16343174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16343174G>A	ENST00000285083.5	+	7	939	c.474G>A	c.(472-474)gaG>gaA	p.E158E	OXNAD1_ENST00000606098.1_Silent_p.E158E|OXNAD1_ENST00000605932.1_Silent_p.E158E|OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000435829.2_Silent_p.E176E	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	158	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TGGGTGGAGAGTTCTTCTTTG	0.483																																						ENST00000285083.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						c.(472-474)gaG>gaA		oxidoreductase NAD-binding domain containing 1							88.0	83.0	85.0					3																	16343174		2202	4300	6502	SO:0001819	synonymous_variant	92106						oxidoreductase activity	g.chr3:16343174G>A	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.474G>A	3.37:g.16343174G>A						OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000435829.2_Silent_p.E176E|OXNAD1_ENST00000605932.1_Silent_p.E158E|OXNAD1_ENST00000606098.1_Silent_p.E158E	p.E158E	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN			7	939	+			158			FAD-binding FR-type.		Q2HYC7|Q59FA4	Silent	SNP	ENST00000285083.5	37	c.474G>A	CCDS2630.1																																																																																				0.483	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		29	142	0	0	0	1	0	29	142				
ABCA5	23461	broad.mit.edu	37	17	67299047	67299047	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67299047C>T	ENST00000392676.3	-	8	995	c.931G>A	c.(931-933)Gta>Ata	p.V311I	ABCA5_ENST00000588877.1_Splice_Site_p.V311I|ABCA5_ENST00000392677.2_Splice_Site_p.V311I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	311					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GCAAAAAATACCTATAAAATA	0.274																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.e8-1		ATP-binding cassette, sub-family A (ABC1), member 5							16.0	16.0	16.0					17																	67299047		2180	4269	6449	SO:0001630	splice_region_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67299047C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.931-1G>A	17.37:g.67299047C>T						ABCA5_ENST00000392677.2_Splice_Site_p.V311_splice|ABCA5_ENST00000588877.1_Splice_Site_p.V311_splice	p.V311_splice			Q8WWZ7	ABCA5_HUMAN			8	995	-	Breast(10;3.72e-11)		311					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	37	c.930_splice	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010767	0.07727	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.80738	-1.41;-1.41	5.08	2.02	0.26589	.	0.118422	0.37304	N	0.002146	T	0.65471	0.2694	N	0.25094	0.71	0.47737	D	0.999501	B;B	0.09022	0.0;0.002	B;B	0.18561	0.003;0.022	T	0.51694	-0.8673	9	.	.	.	.	10.4211	0.44350	0.0:0.7868:0.0:0.2132	.	311;311	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	311	ENSP00000376444:V311I;ENSP00000376443:V311I	.	V	-	1	0	ABCA5	64810642	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	3.100000	0.50275	0.259000	0.21709	0.655000	0.94253	GTA		0.274	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Missense_Mutation	18	78	0	0	0	1	0	18	78				
USH1G	124590	broad.mit.edu	37	17	72916088	72916088	+	Silent	SNP	G	G	A	rs397515345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72916088G>A	ENST00000319642.1	-	2	1025	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	281					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGAGACGCTGTCCTCGTCCG	0.697																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(841-843)gaC>gaT		Usher syndrome 1G (autosomal recessive)							38.0	48.0	44.0					17																	72916088		2200	4296	6496	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916088G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.843C>T	17.37:g.72916088G>A							p.D281D	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1025	-	all_lung(278;0.172)|Lung NSC(278;0.207)		281					Q8N251	Silent	SNP	ENST00000319642.1	37	c.843C>T	CCDS32725.1																																																																																				0.697	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		18	447	0	0	0	1	0	18	447				
UNC5C	8633	broad.mit.edu	37	4	96106260	96106260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96106260G>A	ENST00000453304.1	-	13	2572	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	742					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATTGACAGGCGCAGGTTGTGG	0.458																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2224-2226)Cgc>Tgc		unc-5 homolog C (C. elegans)							117.0	117.0	117.0					4																	96106260		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96106260G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2224C>T	4.37:g.96106260G>A	ENSP00000406022:p.Arg742Cys						p.R742C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	13	2572	-		Hepatocellular(203;0.114)	742					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2224C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132411	0.77662	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.48522	0.81	5.87	5.87	0.94306	.	0.104565	0.64402	D	0.000005	T	0.62624	0.2443	L	0.39467	1.215	0.80722	D	1	P;D	0.89917	0.548;1.0	B;D	0.85130	0.036;0.997	T	0.55224	-0.8174	10	0.33141	T	0.24	.	20.2788	0.98501	0.0:0.0:1.0:0.0	.	742;742	A8K385;O95185	.;UNC5C_HUMAN	C	742;701	ENSP00000406022:R742C	ENSP00000328673:R701C	R	-	1	0	UNC5C	96325283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.024000	0.64090	2.788000	0.95919	0.650000	0.86243	CGC		0.458	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		136	527	0	0	0	1	0	136	527				
RAB27A	5873	broad.mit.edu	37	15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	rs104894499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55516100C>T	ENST00000396307.2	-	5	705	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T|RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport). {ECO:0000269|PubMed:10835631}.		antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9	GRCh37	CM001324	RAB27A	M	rs104894499	c.(454-456)Gca>Aca		RAB27A, member RAS oncogene family							177.0	181.0	180.0					15																	55516100		2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55516100C>T	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.454G>A	15.37:g.55516100C>T	ENSP00000379601:p.Ala152Thr					RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T|RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T	p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	5	705	-			152		A -> P (in GS2; may affect GTP binding; interferes with melanosome transport).			O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.454G>A	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000069974	ENST00000396307;ENST00000336787	D;D	0.82167	-1.58;-1.58	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	D	0.91633	0.5320	10	0.87932	D	0	-12.6781	18.6655	0.91488	0.0:1.0:0.0:0.0	.	152	P51159	RB27A_HUMAN	T	152	ENSP00000379601:A152T;ENSP00000337761:A152T	ENSP00000337761:A152T	A	-	1	0	RAB27A	53303392	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.532000	0.81985	2.746000	0.94184	0.555000	0.69702	GCA		0.393	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		212	1040	0	0	0	1	0	212	1040				
RRM2B	50484	broad.mit.edu	37	8	103231160	103231160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103231160G>A	ENST00000251810.3	-	6	809	c.566C>T	c.(565-567)gCc>gTc	p.A189V	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V|RRM2B_ENST00000519317.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	189					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	AGCAGCAAAGGCCACCACTCT	0.353								Modulation of nucleotide pools																														ENST00000251810.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(565-567)gCc>gTc	Modulation of nucleotide pools	ribonucleotide reductase M2 B (TP53 inducible)							110.0	117.0	114.0					8																	103231160		2203	4300	6503	SO:0001583	missense	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103231160G>A	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.566C>T	8.37:g.103231160G>A	ENSP00000251810:p.Ala189Val					RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron	p.A189V	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		6	809	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		189					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	c.566C>T	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098649	0.94197	.	.	ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000395912	D;D	0.97791	-4.54;-4.54	5.37	5.37	0.77165	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.099527	0.64402	D	0.000002	D	0.99260	0.9742	H	0.98256	4.185	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.65443	0.776;0.935	D	0.98766	1.0726	10	0.87932	D	0	.	19.1474	0.93473	0.0:0.0:1.0:0.0	.	137;189	Q7LG56-2;Q7LG56	.;RIR2B_HUMAN	V	189;135;137	ENSP00000251810:A189V;ENSP00000379248:A137V	ENSP00000251810:A189V	A	-	2	0	RRM2B	103300336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.511000	0.84671	0.650000	0.86243	GCC		0.353	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			139	668	0	0	0	1	0	139	668				
NCAM1	4684	broad.mit.edu	37	11	113075180	113075180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113075180C>T	ENST00000316851.7	+	2	270	c.270C>T	c.(268-270)ggC>ggT	p.G90G	NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	100	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGTTACAGGCGAGGATGGCA	0.527																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(268-270)ggC>ggT		neural cell adhesion molecule 1							82.0	85.0	84.0					11																	113075180		2136	4229	6365	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113075180C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.270C>T	11.37:g.113075180C>T						NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G|NCAM1_ENST00000397957.4_3'UTR	p.G90G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	2	270	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	100			Ig-like C2-type 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000316851.7	37	c.270C>T																																																																																					0.527	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		NM_000615		42	189	0	0	0	1	0	42	189				
RHOH	399	broad.mit.edu	37	4	40245403	40245403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245403G>T	ENST00000381799.5	+	3	1121	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	133					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGCGTCAATGCCATGGAAGG	0.602																																						ENST00000381799.4																			0				kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(397-399)Gcc>Tcc		ras homolog family member H							52.0	54.0	54.0					4																	40245403		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245403G>T	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.397G>T	4.37:g.40245403G>T	ENSP00000371219:p.Ala133Ser					RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	p.A133S	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN			3	1121	+			133						Missense_Mutation	SNP	ENST00000381799.5	37	c.397G>T	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	4.166	0.029282	0.08054	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.76839	-1.05;-1.05	5.92	4.0	0.46444	Small GTP-binding protein domain (1);	0.326387	0.33346	N	0.005007	T	0.54565	0.1866	N	0.05230	-0.09	0.28632	N	0.907628	B	0.02656	0.0	B	0.08055	0.003	T	0.44498	-0.9324	10	0.33940	T	0.23	.	8.8676	0.35296	0.0:0.2369:0.4532:0.3098	.	133	Q15669	RHOH_HUMAN	S	133	ENSP00000425010:A133S;ENSP00000371219:A133S	ENSP00000371219:A133S	A	+	1	0	RHOH	39921798	0.604000	0.26932	0.978000	0.43139	0.164000	0.22412	-0.014000	0.12656	2.810000	0.96702	0.585000	0.79938	GCC		0.602	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		53	274	1	0	3.07002e-29	1	3.58444e-29	53	274				
ACOXL	55289	broad.mit.edu	37	2	111559251	111559251	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111559251G>A	ENST00000389811.4	+	8	794	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ACOXL_ENST00000439055.1_Silent_p.G190G|ACOXL_ENST00000340561.4_Silent_p.G190G			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	190					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGACAATGGGATATTAATAT	0.468																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(568-570)ggG>ggA		acyl-CoA oxidase-like							148.0	136.0	140.0					2																	111559251		2203	4300	6503	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111559251G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.570G>A	2.37:g.111559251G>A						ACOXL_ENST00000439055.1_Silent_p.G190G|ACOXL_ENST00000340561.4_Silent_p.G190G	p.G190G			Q9NUZ1	ACOXL_HUMAN			8	794	+			190					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.570G>A																																																																																					0.468	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		86	302	0	0	0	1	0	86	302				
ZSCAN25	221785	broad.mit.edu	37	7	99227349	99227349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227349G>T	ENST00000394152.2	+	8	1668	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.Q447H|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.Q375H|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	447					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCACCTGCAGGTGCACCGGA	0.647																																						ENST00000394152.2																			0											c.(1339-1341)caG>caT		zinc finger and SCAN domain containing 25							42.0	45.0	44.0					7																	99227349		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99227349G>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1341G>T	7.37:g.99227349G>T	ENSP00000377708:p.Gln447His					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.Q375H|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.Q447H|ZSCAN25_ENST00000466948.1_Intron	p.Q447H	NM_145115.2	NP_660090.2					8	1668	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.1341G>T	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209253	0.58343	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.12569	2.67;2.67;2.67	3.93	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172297	0.28257	N	0.016008	T	0.18215	0.0437	L	0.44542	1.39	0.25696	N	0.98563	P;P	0.43885	0.785;0.82	P;P	0.49140	0.465;0.601	T	0.03017	-1.1082	10	0.66056	D	0.02	-16.1905	10.9024	0.47059	0.0:0.0:0.8108:0.1892	.	375;447	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	H	447;447;375	ENSP00000377708:Q447H;ENSP00000334800:Q447H;ENSP00000262941:Q375H	ENSP00000262941:Q375H	Q	+	3	2	ZNF498	99065285	0.000000	0.05858	0.999000	0.59377	0.995000	0.86356	0.462000	0.21956	1.164000	0.42652	0.561000	0.74099	CAG		0.647	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		74	243	1	0	6.72169e-28	1	7.80062e-28	74	243				
ZNF267	10308	broad.mit.edu	37	16	31926727	31926727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31926727G>A	ENST00000300870.10	+	4	1366	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	386					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCATGTAGCAAATCTTTT	0.363																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1156-1158)aGc>aAc		zinc finger protein 267							71.0	79.0	76.0					16																	31926727		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926727G>A	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1157G>A	16.37:g.31926727G>A	ENSP00000300870:p.Ser386Asn					RP11-170L3.8_ENST00000575471.1_RNA	p.S386N	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	1366	+			386					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1157G>A	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	8.336	0.827568	0.16749	.	.	ENSG00000185947	ENST00000300870	T	0.15017	2.46	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.20845	0.615	0.80722	D	1	B	0.31931	0.347	B	0.17722	0.019	T	0.21109	-1.0255	9	0.72032	D	0.01	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	386	Q14586	ZN267_HUMAN	N	386	ENSP00000300870:S386N	ENSP00000300870:S386N	S	+	2	0	ZNF267	31834228	0.989000	0.36119	0.055000	0.19348	0.050000	0.14768	0.778000	0.26732	0.482000	0.27582	0.484000	0.47621	AGC		0.363	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		108	364	0	0	0	1	0	108	364				
CST2	1470	broad.mit.edu	37	20	23807102	23807102	+	Missense_Mutation	SNP	G	G	A	rs112783512	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807102G>A	ENST00000304725.2	-	1	266	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	66					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CGCAGCAGGCGTCTGTAGTAC	0.557																																					Pancreas(193;496 3017 22514 29918)	ENST00000304725.2																			0				breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						c.(196-198)Cgc>Tgc		cystatin SA		G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	105.0	85.0	92.0		196	0.9	0.0	20	dbSNP_132	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CST2	NM_001322.2	180	0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461	possibly-damaging	66/142	23807102	6,13000	2203	4300	6503	SO:0001583	missense	1470					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23807102G>A	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.196C>T	20.37:g.23807102G>A	ENSP00000307540:p.Arg66Cys						p.R66C	NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN			1	266	-			66					Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	c.196C>T	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165527	0.21538	6.81E-4	3.49E-4	ENSG00000170369	ENST00000304725	T	0.28255	1.62	2.0	0.943	0.19531	Proteinase inhibitor I25, cystatin (2);	0.376195	0.24379	N	0.039032	T	0.43233	0.1238	M	0.91612	3.225	0.09310	N	0.999999	P	0.40211	0.707	P	0.45119	0.47	T	0.39800	-0.9596	10	0.62326	D	0.03	.	5.7627	0.18209	0.0:0.0:0.6868:0.3132	.	66	P09228	CYTT_HUMAN	C	66	ENSP00000307540:R66C	ENSP00000307540:R66C	R	-	1	0	CST2	23755102	0.154000	0.22792	0.011000	0.14972	0.041000	0.13682	0.699000	0.25586	0.135000	0.18707	0.298000	0.19748	CGC		0.557	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			43	220	0	0	0	1	0	43	220				
RIMS4	140730	broad.mit.edu	37	20	43386371	43386371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43386371C>T	ENST00000372851.3	-	4	457	c.391G>A	c.(391-393)Gag>Aag	p.E131K	RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	131	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATGTCCACCTCCAACTGACCG	0.592																																						ENST00000372851.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(391-393)Gag>Aag		regulating synaptic membrane exocytosis 4							131.0	106.0	114.0					20																	43386371		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386371C>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.391G>A	20.37:g.43386371C>T	ENSP00000361942:p.Glu131Lys					RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	p.E131K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			4	457	-		Myeloproliferative disorder(115;0.0122)	131			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.391G>A	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	36	5.779694	0.96929	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.68765	-0.35;-0.35	5.76	5.76	0.90799	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.69307	0.919;0.963	T	0.82100	-0.0624	10	0.87932	D	0	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	132;131	E1P613;Q9H426	.;RIMS4_HUMAN	K	131;132	ENSP00000361942:E131K;ENSP00000439287:E132K	ENSP00000361942:E131K	E	-	1	0	RIMS4	42819785	1.000000	0.71417	0.968000	0.41197	0.912000	0.54170	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	GAG		0.592	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		91	479	0	0	0	1	0	91	479				
GANC	2595	broad.mit.edu	37	15	42631902	42631902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42631902G>A	ENST00000318010.8	+	17	2119	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	627					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TCCAGAGACAGAGCTGCTAGT	0.542																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1879-1881)Gag>Aag		glucosidase, alpha; neutral C							94.0	93.0	93.0					15																	42631902		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42631902G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1879G>A	15.37:g.42631902G>A	ENSP00000326227:p.Glu627Lys						p.E627K	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2119	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	627					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1879G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	36	5.972882	0.97162	.	.	ENSG00000214013	ENST00000318010	D	0.95205	-3.64	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	M	0.91920	3.255	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.98113	1.0421	10	0.87932	D	0	-20.7149	20.5568	0.99304	0.0:0.0:1.0:0.0	.	627	Q8TET4	GANC_HUMAN	K	627	ENSP00000326227:E627K	ENSP00000326227:E627K	E	+	1	0	GANC	40419194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG		0.542	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		111	435	0	0	0	1	0	111	435				
LRRC7	57554	broad.mit.edu	37	1	70486761	70486761	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70486761C>T	ENST00000035383.5	+	14	1410	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	LRRC7_ENST00000310961.5_Silent_p.A465A|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	460						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTTGCCTTTGAATTTG	0.378																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1393-1395)gcC>gcT		leucine rich repeat containing 7							86.0	82.0	83.0					1																	70486761		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70486761C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1380C>T	1.37:g.70486761C>T						RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000035383.5_Silent_p.A460A|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	p.A465A			Q96NW7	LRRC7_HUMAN			17	1813	+			460					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.1395C>T	CCDS645.1																																																																																				0.378	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		42	147	0	0	0	1	0	42	147				
RPAP2	79871	broad.mit.edu	37	1	92801960	92801960	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92801960T>G	ENST00000610020.1	+	10	1704	c.1595T>G	c.(1594-1596)cTt>cGt	p.L532R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	532					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TACACACAACTTAAAAATCTT	0.299																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(1594-1596)cTt>cGt		RNA polymerase II associated protein 2							74.0	79.0	77.0					1																	92801960		2203	4298	6501	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92801960T>G	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1595T>G	1.37:g.92801960T>G	ENSP00000476948:p.Leu532Arg						p.L532R	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	10	1704	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	532					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1595T>G	CCDS740.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092447	0.76756	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.74	5.74	0.90152	.	0.189633	0.47455	D	0.000223	T	0.72293	0.3442	M	0.76002	2.32	0.36136	D	0.846485	D	0.89917	1.0	D	0.71184	0.972	T	0.78411	-0.2214	8	0.87932	D	0	-15.3528	13.4234	0.61011	0.0:0.0:0.0:1.0	.	532	Q8IXW5	RPAP2_HUMAN	R	532	.	ENSP00000359368:L532R	L	+	2	0	RPAP2	92574548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.777000	0.62361	2.197000	0.70478	0.528000	0.53228	CTT		0.299	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		29	280	0	0	0	1	0	29	280				
FBN3	84467	broad.mit.edu	37	19	8209804	8209804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8209804G>A	ENST00000600128.1	-	6	912	c.498C>T	c.(496-498)cgC>cgT	p.R166R	FBN3_ENST00000601739.1_Silent_p.R166R|FBN3_ENST00000270509.2_Silent_p.R166R			Q75N90	FBN3_HUMAN	fibrillin 3	166	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGGCGCAGCGGTTGGGCC	0.622																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(496-498)cgC>cgT		fibrillin 3							52.0	40.0	44.0					19																	8209804		2202	4300	6502	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8209804G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.498C>T	19.37:g.8209804G>A						FBN3_ENST00000270509.2_Silent_p.R166R|FBN3_ENST00000601739.1_Silent_p.R166R	p.R166R			Q75N90	FBN3_HUMAN			6	912	-			166			EGF-like 1.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.498C>T	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		17	60	0	0	0	1	0	17	60				
KCNB2	9312	broad.mit.edu	37	8	73848830	73848830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848830C>T	ENST00000523207.1	+	3	1828	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	414					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCTTCCTATCCCAATTATTGT	0.443																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1240-1242)Cca>Tca		potassium voltage-gated channel, Shab-related subfamily, member 2							74.0	76.0	75.0					8																	73848830		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848830C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1240C>T	8.37:g.73848830C>T	ENSP00000430846:p.Pro414Ser						p.P414S	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1828	+	Breast(64;0.137)		414					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1240C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016589	0.75161	.	.	ENSG00000182674	ENST00000523207	D	0.98419	-4.92	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.45126	D	0.000385	D	0.98741	0.9577	M	0.67397	2.05	0.80722	D	1	D	0.59767	0.986	D	0.68943	0.961	D	0.99865	1.1088	10	0.87932	D	0	.	19.91	0.97023	0.0:1.0:0.0:0.0	.	414	Q92953	KCNB2_HUMAN	S	414	ENSP00000430846:P414S	ENSP00000430846:P414S	P	+	1	0	KCNB2	74011384	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	CCA		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		80	327	0	0	0	1	0	80	327				
TSPEAR	54084	broad.mit.edu	37	21	45949758	45949758	+	Missense_Mutation	SNP	G	G	A	rs376643533		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45949758G>A	ENST00000323084.4	-	5	778	c.713C>T	c.(712-714)gCg>gTg	p.A238V	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A170V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	238	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.A238V(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGACAGCACCGCCAGCGGGGC	0.642																																						ENST00000323084.4																			1	Substitution - Missense(1)	p.A238V(1)	central_nervous_system(1)	breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(712-714)gCg>gTg		thrombospondin-type laminin G domain and EAR repeats		G	VAL/ALA	0,4406		0,0,2203	43.0	49.0	47.0		713	3.9	0.0	21		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSPEAR	NM_144991.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	238/670	45949758	1,13005	2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949758G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.713C>T	21.37:g.45949758G>A	ENSP00000321987:p.Ala238Val					TSPEAR_ENST00000397916.1_Missense_Mutation_p.A170V	p.A238V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	778	-			238						Missense_Mutation	SNP	ENST00000323084.4	37	c.713C>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202198	0.38905	0.0	1.16E-4	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.46819	0.86;0.86	4.83	3.94	0.45596	.	0.146393	0.45361	D	0.000377	T	0.40694	0.1127	L	0.55103	1.725	0.47123	D	0.999327	B	0.24258	0.1	B	0.14023	0.01	T	0.19877	-1.0292	10	0.19147	T	0.46	-8.2929	13.236	0.59969	0.079:0.0:0.921:0.0	.	238	Q8WU66	TSEAR_HUMAN	V	238;170;238	ENSP00000321987:A238V;ENSP00000381012:A170V	ENSP00000321987:A238V	A	-	2	0	TSPEAR	44774186	0.598000	0.26882	0.034000	0.17996	0.601000	0.36947	3.441000	0.52893	0.991000	0.38814	0.491000	0.48974	GCG		0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		52	219	0	0	0	1	0	52	219				
MCOLN3	55283	broad.mit.edu	37	1	85491722	85491722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85491722G>A	ENST00000370589.2	-	9	1047	c.995C>T	c.(994-996)tCt>tTt	p.S332F	MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000474447.1_5'Flank|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	332					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CATTTGATCAGAAACAGAAAC	0.338																																						ENST00000370589.2																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(994-996)tCt>tTt		mucolipin 3							52.0	51.0	51.0					1																	85491722		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85491722G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.995C>T	1.37:g.85491722G>A	ENSP00000359621:p.Ser332Phe					WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F	p.S332F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	9	1047	-			332					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.995C>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719362	0.68844	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.76968	-1.06;-1.06	6.16	5.2	0.72013	.	0.265839	0.43919	D	0.000507	T	0.81805	0.4900	M	0.74881	2.28	0.39379	D	0.966227	P;P;D	0.53462	0.865;0.95;0.96	P;P;P	0.60609	0.77;0.877;0.815	T	0.81854	-0.0741	10	0.49607	T	0.09	-4.9798	11.3141	0.49381	0.0:0.1078:0.6668:0.2254	.	332;276;332	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	F	332;332;276;276	ENSP00000359621:S332F;ENSP00000342698:S276F	ENSP00000304843:S332F	S	-	2	0	MCOLN3	85264310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.292000	0.59031	2.937000	0.99478	0.650000	0.86243	TCT		0.338	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		10	66	0	0	0	1	0	10	66				
LONRF1	91694	broad.mit.edu	37	8	12598479	12598479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12598479G>A	ENST00000398246.3	-	3	936	c.867C>T	c.(865-867)ctC>ctT	p.L289L	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	289							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CAGCATCGCAGAGTACTTTTC	0.338																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(865-867)ctC>ctT		LON peptidase N-terminal domain and ring finger 1							175.0	177.0	176.0					8																	12598479		1824	4080	5904	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12598479G>A	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.867C>T	8.37:g.12598479G>A						LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	p.L289L	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	3	936	-			289					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.867C>T	CCDS5987.2																																																																																				0.338	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		19	872	0	0	0	1	0	19	872				
DROSHA	29102	broad.mit.edu	37	5	31493337	31493337	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31493337A>G	ENST00000511367.2	-	12	2063	c.1819T>C	c.(1819-1821)Ttt>Ctt	p.F607L	DROSHA_ENST00000344624.3_Missense_Mutation_p.F607L|DROSHA_ENST00000442743.1_Missense_Mutation_p.F570L|DROSHA_ENST00000513349.1_Missense_Mutation_p.F570L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	607	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCATGTGCAAACATAGAAAAT	0.393																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1819-1821)Ttt>Ctt		drosha, ribonuclease type III							66.0	66.0	66.0					5																	31493337		1880	4106	5986	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31493337A>G	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1819T>C	5.37:g.31493337A>G	ENSP00000425979:p.Phe607Leu					DROSHA_ENST00000344624.3_Missense_Mutation_p.F607L|DROSHA_ENST00000442743.1_Missense_Mutation_p.F570L|DROSHA_ENST00000513349.1_Missense_Mutation_p.F570L	p.F607L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			12	2063	-			607			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1819T>C	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.54|11.54	1.668260|1.668260	0.29604|0.29604	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188|ENST00000512076	T;T;T;T|.	0.09163|.	3.01;3.01;3.01;3.01|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41305|0.41305	0.1153|0.1153	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21147|.	0.052;0.031;0.008|.	B;B;B|.	0.21151|.	0.033;0.014;0.004|.	T|T	0.35549|0.35549	-0.9784|-0.9784	10|5	0.02654|.	T|.	1|.	-18.4387|-18.4387	15.5976|15.5976	0.76599|0.76599	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	539;570;607|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	L|A	607;607;570;570;532;563|368	ENSP00000425979:F607L;ENSP00000339845:F607L;ENSP00000409335:F570L;ENSP00000424161:F570L|.	ENSP00000265075:F532L|.	F|V	-|-	1|2	0|0	DROSHA|DROSHA	31529094|31529094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.904000|7.904000	0.87408|0.87408	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	TTT|GTT		0.393	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		11	61	0	0	0	1	0	11	61				
KIAA0556	23247	broad.mit.edu	37	16	27789047	27789047	+	Silent	SNP	C	C	T	rs113619157		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27789047C>T	ENST00000261588.4	+	26	4687	c.4668C>T	c.(4666-4668)acC>acT	p.T1556T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1556						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCTCTTCACCGAGGACAGGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18104	0.0		0.0	False		,,,				2504	0.0					ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4666-4668)acC>acT		KIAA0556		C		1,4393	2.1+/-5.4	0,1,2196	111.0	92.0	98.0		4668	-1.6	1.0	16	dbSNP_132	98	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	KIAA0556	NM_015202.2		0,13,6484	TT,TC,CC		0.1395,0.0228,0.1		1556/1619	27789047	13,12981	2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27789047C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4668C>T	16.37:g.27789047C>T							p.T1556T	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			26	4687	+			1556					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4668C>T	CCDS32415.1																																																																																				0.637	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		103	417	0	0	0	1	0	103	417				
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	C	A	rs375231980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3441290C>A	ENST00000344733.5	+	18	5127	c.4223C>A	c.(4222-4224)gCt>gAt	p.A1408D	RGS12_ENST00000338806.4_Missense_Mutation_p.A760D|HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1408					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662																																						ENST00000344733.5																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4222-4224)gCt>gAt		regulator of G-protein signaling 12							35.0	34.0	35.0					4																	3441290		2201	4295	6496	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441290C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4223C>A	4.37:g.3441290C>A	ENSP00000339381:p.Ala1408Asp					RGS12_ENST00000338806.4_Missense_Mutation_p.A760D	p.A1408D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5127	+			1408					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4223C>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453747	0.26161	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.34859	1.64;1.34	2.59	1.24	0.21308	.	2.890200	0.02424	U	0.082860	T	0.25382	0.0617	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27700	0.16;0.186;0.18	B;B;B	0.32533	0.06;0.147;0.07	T	0.26467	-1.0102	10	0.49607	T	0.09	-0.0458	4.2025	0.10473	0.0:0.699:0.0:0.301	.	750;760;1408	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	D	1408;760	ENSP00000339381:A1408D;ENSP00000342133:A760D	ENSP00000342133:A760D	A	+	2	0	RGS12	3411088	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.755000	0.04782	0.327000	0.23409	0.462000	0.41574	GCT		0.662	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		44	224	1	0	2.95478e-19	1	3.29235e-19	44	224				
PARD3B	117583	broad.mit.edu	37	2	205983693	205983693	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205983693G>A	ENST00000406610.2	+	7	936	c.729G>A	c.(727-729)aaG>aaA	p.K243K	PARD3B_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000349953.3_Silent_p.K243K|PARD3B_ENST00000351153.1_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	243	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGGTCCAAGCGGGAGGGAC	0.333																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(727-729)aaG>aaA		par-3 family cell polarity regulator beta							90.0	88.0	89.0					2																	205983693		1856	4097	5953	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205983693G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.729G>A	2.37:g.205983693G>A						PARD3B_ENST00000349953.3_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K|PARD3B_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000351153.1_Silent_p.K243K	p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	7	936	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	243			PDZ 1.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.729G>A																																																																																					0.333	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		70	336	0	0	0	1	0	70	336				
EED	8726	broad.mit.edu	37	11	85988058	85988058	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988058A>C	ENST00000263360.6	+	10	1689	c.1003A>C	c.(1003-1005)Aag>Cag	p.K335Q	EED_ENST00000527888.1_5'UTR|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000351625.6_Missense_Mutation_p.K360Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	335	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GAAACCTGGCAAGATGGAAGA	0.353																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(1003-1005)Aag>Cag		embryonic ectoderm development							98.0	98.0	98.0					11																	85988058		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85988058A>C	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1003A>C	11.37:g.85988058A>C	ENSP00000263360:p.Lys335Gln					EED_ENST00000527888.1_5'UTR|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q|EED_ENST00000351625.6_Missense_Mutation_p.K360Q	p.K335Q	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			10	1689	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	335			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.1003A>C	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294009	0.40594	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564	T;T;T;T	0.53206	0.63;1.57;0.63;0.63	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050105	0.85682	D	0.000000	T	0.29850	0.0746	N	0.11364	0.135	0.80722	D	1	B;B;B;B	0.23735	0.0;0.09;0.006;0.0	B;B;B;B	0.19391	0.0;0.015;0.025;0.0	T	0.12528	-1.0544	9	.	.	.	-15.9168	16.0343	0.80612	1.0:0.0:0.0:0.0	.	335;255;360;335	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	Q	335;255;360;335;84	ENSP00000263360:K335Q;ENSP00000431778:K255Q;ENSP00000338186:K360Q;ENSP00000315587:K335Q	.	K	+	1	0	EED	85665706	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.875000	0.75551	2.198000	0.70561	0.533000	0.62120	AAG		0.353	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		12	278	0	0	0	1	0	12	278				
DYNC1H1	1778	broad.mit.edu	37	14	102514985	102514985	+	Silent	SNP	C	C	T	rs1127284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102514985C>T	ENST00000360184.4	+	74	13515	c.13351C>T	c.(13351-13353)Ctg>Ttg	p.L4451L	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4451					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTGCGCACGCTGATCAACGA	0.602																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(13351-13353)Ctg>Ttg		dynein, cytoplasmic 1, heavy chain 1							90.0	74.0	79.0					14																	102514985		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102514985C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13351C>T	14.37:g.102514985C>T						RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.L4451L	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			74	13515	+			4451					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.13351C>T	CCDS9966.1																																																																																				0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		32	158	0	0	0	1	0	32	158				
EPB41L4B	54566	broad.mit.edu	37	9	112017853	112017853	+	Silent	SNP	C	C	T	rs377599387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112017853C>T	ENST00000374566.3	-	11	1624	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_ENST00000374557.4_Silent_p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	369	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1105-1107)acG>acA		erythrocyte membrane protein band 4.1 like 4B		C	,	2,3888		0,2,1943	120.0	112.0	115.0		1107,1107	-4.4	0.0	9		115	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	EPB41L4B	NM_018424.2,NM_019114.3	,	0,2,6094	TT,TC,CC		0.0,0.0514,0.0164	,	369/519,369/901	112017853	2,12190	1945	4151	6096	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112017853C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1107G>A	9.37:g.112017853C>T						EPB41L4B_ENST00000374557.4_Silent_p.T369T	p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			11	1624	-			369			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.1107G>A	CCDS43859.1																																																																																				0.522	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		80	341	0	0	0	1	0	80	341				
MAGI2	9863	broad.mit.edu	37	7	77973256	77973256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77973256T>C	ENST00000354212.4	-	9	1500	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G	MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G|MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	416					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGGATGCATCCCGGGTGAA	0.443																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1246-1248)gAt>gGt		membrane associated guanylate kinase, WW and PDZ domain containing 2							100.0	84.0	90.0					7																	77973256		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973256T>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1247A>G	7.37:g.77973256T>C	ENSP00000346151:p.Asp416Gly					MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G|MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G	p.D416G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1500	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	416					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1247A>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667297	0.88348	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.91	5.91	0.95273	PDZ/DHR/GLGF (1);	0.000000	0.37577	U	0.002025	T	0.63474	0.2514	M	0.67397	2.05	0.80722	D	1	D;P;P;P;D;D	0.76494	0.998;0.615;0.942;0.942;0.999;0.977	D;P;P;P;D;D	0.81914	0.991;0.703;0.862;0.862;0.995;0.991	T	0.66240	-0.5973	10	0.72032	D	0.01	.	15.5295	0.75942	0.0:0.0:0.0:1.0	.	253;248;416;416;416;416	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	G	416;416;416;416;248;253	ENSP00000405766:D416G;ENSP00000346151:D416G;ENSP00000428389:D416G;ENSP00000441584:D248G;ENSP00000441603:D253G	ENSP00000346151:D416G	D	-	2	0	MAGI2	77811192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	GAT		0.443	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		14	283	0	0	0	1	0	14	283				
SYCP2	10388	broad.mit.edu	37	20	58439431	58439431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439431G>A	ENST00000357552.3	-	45	4753	c.4528C>T	c.(4528-4530)Ctt>Ttt	p.L1510F	SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1510					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATTAAGAAGCTCCTCTTCT	0.303																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(4528-4530)Ctt>Ttt		synaptonemal complex protein 2							59.0	55.0	56.0					20																	58439431		2201	4291	6492	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58439431G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4528C>T	20.37:g.58439431G>A	ENSP00000350162:p.Leu1510Phe					SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F	p.L1510F			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		45	4753	-	all_lung(29;0.00344)		1510					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4528C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258119	0.59321	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.27104	1.69;1.69	5.31	2.07	0.26955	.	0.237603	0.29767	N	0.011253	T	0.40546	0.1121	L	0.59436	1.845	0.33681	D	0.612099	D	0.67145	0.996	D	0.67725	0.953	T	0.53760	-0.8393	10	0.72032	D	0.01	-6.6746	8.6258	0.33888	0.0826:0.2875:0.6299:0.0	.	1510	Q9BX26	SYCP2_HUMAN	F	1510;1510;196	ENSP00000360040:L1510F;ENSP00000350162:L1510F	ENSP00000350162:L1510F	L	-	1	0	SYCP2	57872826	1.000000	0.71417	0.918000	0.36340	0.892000	0.51952	2.477000	0.45180	0.611000	0.30052	0.305000	0.20034	CTT		0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		9	71	0	0	0	1	0	9	71				
HTT	3064	broad.mit.edu	37	4	3146887	3146887	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3146887C>T	ENST00000355072.5	+	24	3220	c.3075C>T	c.(3073-3075)tgC>tgT	p.C1025C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1025					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTTTGGATGCTGTGAAGCTT	0.353																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(3073-3075)tgC>tgT		huntingtin							337.0	307.0	316.0					4																	3146887		1897	4118	6015	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3146887C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3075C>T	4.37:g.3146887C>T							p.C1025C	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	24	3220	+		all_epithelial(65;0.18)	1025					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.3075C>T	CCDS43206.1																																																																																				0.353	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		53	546	0	0	0	1	0	53	546				
GRM7	2917	broad.mit.edu	37	3	7620670	7620670	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620670G>A	ENST00000357716.4	+	8	2351	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Missense_Mutation_p.A693T|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T|GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	693					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						ATCAGTAACAGCTCCCAGACT	0.438																																						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.(2077-2079)Gct>Act		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						114.0	99.0	104.0					3																	7620670		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.chr3:7620670G>A	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.2077G>A	3.37:g.7620670G>A	ENSP00000350348:p.Ala693Thr					GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T|GRM7_ENST00000357716.4_Missense_Mutation_p.A693T|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T|GRM7_ENST00000458641.2_3'UTR	p.A693T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2351	+			693					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2077G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054986	0.36277	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.43152	1.355	0.51233	D	0.999911	B;P;P;P;P	0.43938	0.151;0.59;0.822;0.643;0.731	B;B;P;P;B	0.53360	0.21;0.282;0.724;0.459;0.438	D	0.89714	0.3914	10	0.48119	T	0.1	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	693;693;448;693;693	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	693	ENSP00000350348:A693T;ENSP00000417536:A693T;ENSP00000373987:A693T;ENSP00000385664:A693T;ENSP00000384585:A693T	ENSP00000350348:A693T	A	+	1	0	GRM7	7595670	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	6.396000	0.73234	2.941000	0.99782	0.655000	0.94253	GCT		0.438	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		47	203	0	0	0	1	0	47	203				
KLF10	7071	broad.mit.edu	37	8	103667818	103667818	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103667818G>A	ENST00000285407.6	-	1	312	c.12C>T	c.(10-12)ttC>ttT	p.F4F	KLF10_ENST00000395884.3_5'Flank	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	4					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAGAGGCACCGAAGTTGAGCA	0.657																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000285407.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(10-12)ttC>ttT		Kruppel-like factor 10							78.0	72.0	74.0					8																	103667818		2203	4300	6503	SO:0001819	synonymous_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103667818G>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.12C>T	8.37:g.103667818G>A							p.F4F	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		1	312	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		4					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	ENST00000285407.6	37	c.12C>T	CCDS6294.1																																																																																				0.657	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			29	167	0	0	0	1	0	29	167				
RDH8	50700	broad.mit.edu	37	19	10129521	10129521	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10129521T>G	ENST00000171214.1	+	3	626	c.377T>G	c.(376-378)cTt>cGt	p.L126R	RDH8_ENST00000591589.1_Missense_Mutation_p.L146R	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	126					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAAGCTGTGCTTCCAGGCATG	0.607																																						ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(436-438)cTt>cGt		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						90.0	87.0	88.0					19																	10129521		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10129521T>G	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.377T>G	19.37:g.10129521T>G	ENSP00000171214:p.Leu126Arg					RDH8_ENST00000171214.1_Missense_Mutation_p.L126R	p.L146R			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		3	626	+			126					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.437T>G		.	.	.	.	.	.	.	.	.	.	T	23.7	4.449839	0.84101	.	.	ENSG00000080511	ENST00000171214	D	0.95035	-3.59	5.34	5.34	0.76211	NAD(P)-binding domain (1);	0.054757	0.64402	D	0.000001	D	0.97779	0.9271	M	0.93550	3.43	0.49582	D	0.999808	D	0.71674	0.998	D	0.79108	0.992	D	0.98708	1.0703	10	0.87932	D	0	.	13.2557	0.60076	0.0:0.0:0.0:1.0	.	126	Q9NYR8	RDH8_HUMAN	R	126	ENSP00000171214:L126R	ENSP00000171214:L126R	L	+	2	0	RDH8	9990521	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.657000	0.83745	2.016000	0.59253	0.402000	0.26972	CTT		0.607	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				125	422	0	0	0	1	0	125	422				
CRYBB3	1417	broad.mit.edu	37	22	25601329	25601329	+	Splice_Site	SNP	C	C	T	rs375467933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25601329C>T	ENST00000215855.2	+	5	550	c.470C>T	c.(469-471)aCg>aTg	p.T157M	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	157	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						ATCAACGGGACGTAAGGGACC	0.532																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.e5+1		crystallin, beta B3		C	MET/THR	0,4406		0,0,2203	78.0	63.0	68.0		470	4.1	1.0	22		68	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	CRYBB3	NM_004076.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	157/212	25601329	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25601329C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.470+1C>T	22.37:g.25601329C>T						CRYBB3_ENST00000404334.1_Intron	p.T157_splice	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			5	550	+			157			Beta/gamma crystallin 'Greek key' 4.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Splice_Site	SNP	ENST00000215855.2	37	c.470_splice	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237932	0.58886	0.0	1.16E-4	ENSG00000100053	ENST00000215855	T	0.76186	-1.0	5.16	4.14	0.48551	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.114213	0.64402	N	0.000015	D	0.86477	0.5942	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86989	0.2109	10	0.46703	T	0.11	.	12.2128	0.54389	0.0:0.9167:0.0:0.0833	.	157	P26998	CRBB3_HUMAN	M	157	ENSP00000215855:T157M	ENSP00000215855:T157M	T	+	2	0	CRYBB3	23931329	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.138000	0.64795	1.187000	0.43000	0.549000	0.68633	ACG		0.532	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076	Missense_Mutation	18	111	0	0	0	1	0	18	111				
PLEKHO2	80301	broad.mit.edu	37	15	65157620	65157620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65157620C>T	ENST00000323544.4	+	6	1134	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	336	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCACCTGCTCCAGGCACAGT	0.602																																						ENST00000323544.4																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1006-1008)Cca>Tca		pleckstrin homology domain containing, family O member 2							54.0	58.0	57.0					15																	65157620		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157620C>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1006C>T	15.37:g.65157620C>T	ENSP00000326706:p.Pro336Ser					AC069368.3_ENST00000437723.1_Intron	p.P336S	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN			6	1134	+			336			Pro-rich.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.1006C>T	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720908	0.15372	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.42	3.55	0.40652	.	0.419926	0.26796	N	0.022445	T	0.19248	0.0462	N	0.20986	0.625	0.09310	N	1	B;P	0.43094	0.06;0.799	B;B	0.36845	0.032;0.234	T	0.09907	-1.0653	10	0.17369	T	0.5	.	8.1887	0.31354	0.0:0.8176:0.0:0.1824	.	286;336	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	S	336	ENSP00000326706:P336S	ENSP00000326706:P336S	P	+	1	0	PLEKHO2	62944673	0.004000	0.15560	0.010000	0.14722	0.008000	0.06430	1.931000	0.40134	0.662000	0.31006	0.655000	0.94253	CCA		0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		56	276	0	0	0	1	0	56	276				
VAT1L	57687	broad.mit.edu	37	16	77850827	77850827	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77850827C>T	ENST00000302536.2	+	2	396	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	81							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGATTAAACTTCATTGACT	0.428																																						ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(241-243)aaC>aaT		vesicle amine transport 1-like							103.0	97.0	99.0					16																	77850827		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77850827C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.243C>T	16.37:g.77850827C>T							p.N81N	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			2	396	+			81					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.243C>T	CCDS32492.1																																																																																				0.428	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		15	420	0	0	0	1	0	15	420				
ANKRD13C	81573	broad.mit.edu	37	1	70740430	70740430	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70740430C>A	ENST00000370944.4	-	11	1680	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	456					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAATTCCTGGCTCATGGCTAT	0.358																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1366-1368)aGc>aTc		ankyrin repeat domain 13C							186.0	191.0	189.0					1																	70740430		2203	4300	6503	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70740430C>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1367G>T	1.37:g.70740430C>A	ENSP00000359982:p.Ser456Ile					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I|ANKRD13C_ENST00000464236.1_5'UTR	p.S456I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			11	1680	-			456					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1367G>T	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008699	0.93346	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.58210	0.35;0.35	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.991;0.996	T	0.80995	-0.1133	10	0.87932	D	0	-15.944	18.7421	0.91777	0.0:1.0:0.0:0.0	.	421;456	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	I	456;421	ENSP00000359982:S456I;ENSP00000262346:S421I	ENSP00000262346:S421I	S	-	2	0	ANKRD13C	70513018	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.404000	0.79996	2.537000	0.85549	0.563000	0.77884	AGC		0.358	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		17	653	1	0	6.94344e-10	1	7.33246e-10	17	653				
KIF12	113220	broad.mit.edu	37	9	116856514	116856514	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116856514C>T	ENST00000374118.3	-	10	1083	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	415	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAGGTTCCGCTGGGCCCAGG	0.632																																						ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(844-846)caG>caA		kinesin family member 12							57.0	61.0	60.0					9																	116856514		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116856514C>T	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.846G>A	9.37:g.116856514C>T						KIF12_ENST00000473174.1_Intron	p.Q282Q	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			10	1083	-			415			Kinesin-motor.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.846G>A	CCDS6801.1																																																																																				0.632	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		75	387	0	0	0	1	0	75	387				
FAM86C2P	645332	broad.mit.edu	37	11	67564237	67564237	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67564237C>A	ENST00000528089.1	-	0	903							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GCTGGTGCTCCCGGCAGGCAG	0.612																																						ENST00000528089.1																			0																																																			0							g.chr11:67564237C>A			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564237C>A														0	903	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.612	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			36	340	1	0	1.42676e-28	1	1.66098e-28	36	340				
RASGEF1A	221002	broad.mit.edu	37	10	43691985	43691985	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43691985C>T	ENST00000395809.1	-	12	3866	c.1360G>A	c.(1360-1362)Gcc>Acc	p.A454T	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	454	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.A401T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCAAAGGAGGCGACGAAGAGA	0.557																																						ENST00000395809.1																			1	Substitution - Missense(1)	p.A401T(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(1360-1362)Gcc>Acc		RasGEF domain family, member 1A							131.0	121.0	125.0					10																	43691985		2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43691985C>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1360G>A	10.37:g.43691985C>T	ENSP00000379154:p.Ala454Thr					RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T	p.A454T			Q8N9B8	RGF1A_HUMAN			12	3866	-			454			Ras-GEF.		Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.1360G>A	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	32	5.162848	0.94727	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.30981	1.51;1.51;1.51	5.14	5.14	0.70334	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.45175	0.1329	M	0.61703	1.905	0.80722	D	1	P;P	0.50819	0.807;0.939	B;P	0.50314	0.356;0.637	T	0.44283	-0.9338	10	0.59425	D	0.04	.	18.9656	0.92695	0.0:1.0:0.0:0.0	.	454;462	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	T	462;454;454	ENSP00000363583:A462T;ENSP00000379155:A454T;ENSP00000379154:A454T	ENSP00000363583:A462T	A	-	1	0	RASGEF1A	43011991	1.000000	0.71417	0.958000	0.39756	0.922000	0.55478	7.403000	0.79983	2.550000	0.86006	0.462000	0.41574	GCC		0.557	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		84	431	0	0	0	1	0	84	431				
CEP152	22995	broad.mit.edu	37	15	49059316	49059316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49059316C>T	ENST00000380950.2	-	17	2408	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000325747.5_Missense_Mutation_p.D648N|CEP152_ENST00000399334.3_Missense_Mutation_p.D741N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	741					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTAGATTATCCTTCTCTCTG	0.418																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2221-2223)Gat>Aat		centrosomal protein 152kDa							208.0	198.0	201.0					15																	49059316		1930	4128	6058	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059316C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2221G>A	15.37:g.49059316C>T	ENSP00000370337:p.Asp741Asn					CEP152_ENST00000325747.5_Missense_Mutation_p.D648N|CEP152_ENST00000399334.3_Missense_Mutation_p.D741N	p.D741N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	17	2408	-		all_lung(180;0.0428)	741					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2221G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086811	0.94100	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.27;0.32;0.26	5.45	5.45	0.79879	.	0.216802	0.45361	D	0.000361	T	0.76212	0.3956	M	0.77103	2.36	0.45076	D	0.998092	P;D;D	0.89917	0.925;1.0;0.992	P;D;P	0.68943	0.691;0.961;0.891	T	0.77456	-0.2581	10	0.54805	T	0.06	-16.5704	17.4356	0.87550	0.0:1.0:0.0:0.0	.	648;741;741	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	741;648;741	ENSP00000370337:D741N;ENSP00000321000:D648N;ENSP00000382271:D741N	ENSP00000321000:D648N	D	-	1	0	CEP152	46846608	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	5.358000	0.66064	2.716000	0.92895	0.655000	0.94253	GAT		0.418	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		165	686	0	0	0	1	0	165	686				
CFAP46	54777	broad.mit.edu	37	10	134622314	134622314	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134622314C>A	ENST00000368586.5	-	58	7859	c.7759G>T	c.(7759-7761)Gca>Tca	p.A2587S	TTC40_ENST00000263170.5_Missense_Mutation_p.A748S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGCTTGGTGCGGCAGCCCAT	0.632																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(7759-7761)Gca>Tca		tetratricopeptide repeat domain 40							36.0	33.0	34.0					10																	134622314		2201	4299	6500	SO:0001583	missense	54777							g.chr10:134622314C>A																												ENST00000368586.5:c.7759G>T	10.37:g.134622314C>A	ENSP00000357575:p.Ala2587Ser					TTC40_ENST00000263170.5_Missense_Mutation_p.A748S	p.A2587S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			58	7859	-			748						Missense_Mutation	SNP	ENST00000368586.5	37	c.7759G>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.689258	0.00738	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.13657	2.86;2.57	3.29	-6.59	0.01830	.	4.595720	0.00567	N	0.000300	T	0.08313	0.0207	N	0.22421	0.69	0.37592	D	0.920229	B	0.06786	0.001	B	0.08055	0.003	T	0.37291	-0.9712	10	0.87932	D	0	.	0.923	0.01318	0.2383:0.1144:0.2552:0.3921	.	748	Q8IYW2	CJ092_HUMAN	S	2587;748	ENSP00000357575:A2587S;ENSP00000263170:A748S	ENSP00000263170:A748S	A	-	1	0	C10orf93	134472304	0.000000	0.05858	0.089000	0.20774	0.048000	0.14542	-4.949000	0.00167	-4.718000	0.00035	-1.382000	0.01172	GCA		0.632	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			6	66	1	0	3.59834e-05	1	3.67436e-05	6	66				
PPFIBP2	8495	broad.mit.edu	37	11	7672936	7672936	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7672936T>C	ENST00000299492.4	+	23	2685	c.2297T>C	c.(2296-2298)aTc>aCc	p.I766T	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I623T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	766	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTTCTCAACATCCCCCCACAA	0.552																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2296-2298)aTc>aCc		PTPRF interacting protein, binding protein 2 (liprin beta 2)							132.0	115.0	121.0					11																	7672936		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7672936T>C	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2297T>C	11.37:g.7672936T>C	ENSP00000299492:p.Ile766Thr					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I623T|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T	p.I766T	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2685	+			766			SAM 3.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2297T>C	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488844	0.84962	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.95027	0.8390	M	0.93462	3.42	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;1.0;1.0;1.0	D	0.96012	0.9002	10	0.87932	D	0	-18.7694	14.3292	0.66541	0.0:0.0:0.0:1.0	.	654;654;689;608;623;766	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	T	766;107;608;689;654;623	ENSP00000299492:I766T;ENSP00000436498:I608T;ENSP00000435469:I654T;ENSP00000437321:I623T	ENSP00000299492:I766T	I	+	2	0	PPFIBP2	7629512	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	ATC		0.552	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		78	308	0	0	0	1	0	78	308				
KCNJ14	3770	broad.mit.edu	37	19	48965133	48965133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965133G>A	ENST00000391884.1	+	1	628	c.152G>A	c.(151-153)cGc>cAc	p.R51H	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	51					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CGCCGCGGTCGCTTCGTCAAG	0.701																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(151-153)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 14							31.0	22.0	25.0					19																	48965133		2196	4295	6491	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965133G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.152G>A	19.37:g.48965133G>A	ENSP00000375756:p.Arg51His					KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H	p.R51H			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	628	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	51						Missense_Mutation	SNP	ENST00000391884.1	37	c.152G>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517175	0.64634	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94862	-3.54;-3.54	4.36	2.15	0.27550	.	0.357017	0.28262	N	0.016000	D	0.92133	0.7506	N	0.08118	0	0.47065	D	0.999305	D	0.89917	1.0	D	0.97110	1.0	D	0.90891	0.4761	10	0.87932	D	0	.	8.9956	0.36050	0.0:0.162:0.6701:0.1679	.	51	Q9UNX9	IRK14_HUMAN	H	51	ENSP00000341479:R51H;ENSP00000375756:R51H	ENSP00000341479:R51H	R	+	2	0	KCNJ14	53656945	1.000000	0.71417	0.981000	0.43875	0.254000	0.26022	9.436000	0.97532	0.553000	0.29044	-0.165000	0.13383	CGC		0.701	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		17	54	0	0	0	1	0	17	54				
PKM	5315	broad.mit.edu	37	15	72501087	72501087	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72501087A>G	ENST00000335181.5	-	6	814	c.711T>C	c.(709-711)gtT>gtC	p.V237V	PKM_ENST00000568459.1_Silent_p.V237V|PKM_ENST00000389093.3_Silent_p.V237V|PKM_ENST00000449901.2_Silent_p.V222V|PKM_ENST00000565154.1_Silent_p.V237V|PKM_ENST00000319622.6_Silent_p.V237V|PKM_ENST00000565184.1_Silent_p.V237V|PKM_ENST00000568883.1_Silent_p.V72V	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	237					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	ACACCATATCAACATCCTGCT	0.502																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(709-711)gtT>gtC		pyruvate kinase, muscle							183.0	163.0	170.0					15																	72501087		2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72501087A>G	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.711T>C	15.37:g.72501087A>G						PKM_ENST00000449901.2_Silent_p.V222V|PKM_ENST00000568883.1_Silent_p.V72V|PKM_ENST00000568459.1_Silent_p.V237V|PKM_ENST00000565154.1_Silent_p.V237V|PKM_ENST00000565184.1_Silent_p.V237V|PKM_ENST00000335181.5_Silent_p.V237V|PKM_ENST00000389093.3_Silent_p.V237V	p.V237V	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					6	1167	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.711T>C	CCDS32284.1																																																																																				0.502	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			70	701	0	0	0	1	0	70	701				
TRIM33	51592	broad.mit.edu	37	1	114948188	114948188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114948188G>A	ENST00000358465.2	-	15	2695	c.2612C>T	c.(2611-2613)tCg>tTg	p.S871L	TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L|TRIM33_ENST00000476908.1_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	871					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATCCTTGCCGACCTGTGCAT	0.468			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2611-2613)tCg>tTg		tripartite motif containing 33							221.0	197.0	205.0					1																	114948188		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114948188G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2612C>T	1.37:g.114948188G>A	ENSP00000351250:p.Ser871Leu					TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L	p.S871L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2695	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	871					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.2612C>T	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.38|17.38	3.376244|3.376244	0.61735|0.61735	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.77098	.|-0.93;-0.79;-1.07	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Zinc finger, FYVE/PHD-type (1);	.|0.429133	.|0.25801	.|N	.|0.028201	T|T	0.57946|0.57946	0.2088|0.2088	L|L	0.32530|0.32530	0.975|0.975	0.48288|0.48288	D|D	0.999627|0.999627	.|P;P;B;P;P	.|0.42692	.|0.7;0.748;0.021;0.787;0.682	.|B;B;B;B;B	.|0.32583	.|0.113;0.104;0.016;0.148;0.07	T|T	0.66571|0.66571	-0.5890|-0.5890	5|10	.|0.49607	.|T	.|0.09	-2.905|-2.905	19.2948|19.2948	0.94118|0.94118	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|503;503;66;871;871	.|E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.|.;.;.;.;TRI33_HUMAN	W|L	632|871;871;503	.|ENSP00000351250:S871L;ENSP00000358556:S871L;ENSP00000412077:S503L	.|ENSP00000351250:S871L	R|S	-|-	1|2	2|0	TRIM33|TRIM33	114749711|114749711	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.903000|0.903000	0.53119|0.53119	8.995000|8.995000	0.93534|0.93534	2.636000|2.636000	0.89361|0.89361	0.491000|0.491000	0.48974|0.48974	CGG|TCG		0.468	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		181	627	0	0	0	1	0	181	627				
IL1RAPL1	11141	broad.mit.edu	37	X	29935582	29935582	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:29935582T>C	ENST00000378993.1	+	7	1453	c.780T>C	c.(778-780)ggT>ggC	p.G260G	IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	260	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TCTCTGCAGGTGACTCTGCTA	0.358																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.e7-1		interleukin 1 receptor accessory protein-like 1							48.0	43.0	44.0					X																	29935582		2202	4300	6502	SO:0001630	splice_region_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29935582T>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.779-1T>C	X.37:g.29935582T>C						IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260_splice	p.G260_splice	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			7	1453	+			260			Ig-like C2-type 3.		A0AVG4|Q9UJ53	Splice_Site	SNP	ENST00000378993.1	37	c.778_splice	CCDS14218.1																																																																																				0.358	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	Silent	32	126	0	0	0	1	0	32	126				
TRRAP	8295	broad.mit.edu	37	7	98550854	98550854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98550854C>A	ENST00000359863.4	+	39	5716	c.5507C>A	c.(5506-5508)gCc>gAc	p.A1836D	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1817D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1836					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCAGTACGCCACGCTGCTG	0.622																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5506-5508)gCc>gAc		transformation/transcription domain-associated protein							109.0	89.0	95.0					7																	98550854		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98550854C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5507C>A	7.37:g.98550854C>A	ENSP00000352925:p.Ala1836Asp					TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1817D	p.A1836D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		39	5716	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1836					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.5507C>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.891159|4.891159	0.91889|0.91889	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65732|.	-0.17;-0.17|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.055467|.	0.64402|.	D|.	0.000001|.	T|T	0.74535|0.74535	0.3729|0.3729	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40398|.	0.688;0.716;0.561|.	B;B;B|.	0.36030|.	0.216;0.116;0.116|.	T|T	0.70673|0.70673	-0.4807|-0.4807	10|5	0.66056|.	D|.	0.02|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1818;1557;1836|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	D|T	1836;1818;1816|1558	ENSP00000352925:A1836D;ENSP00000347733:A1818D|.	ENSP00000347733:A1818D|.	A|P	+|+	2|1	0|0	TRRAP|TRRAP	98388790|98388790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		63	251	1	0	1.44317e-28	1	1.68001e-28	63	251				
CSPG4	1464	broad.mit.edu	37	15	75982969	75982969	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75982969A>G	ENST00000308508.5	-	3	529	c.437T>C	c.(436-438)cTc>cCc	p.L146P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	146	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCAACAAAGAGCCCATAGGG	0.647																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(436-438)cTc>cCc		chondroitin sulfate proteoglycan 4							20.0	24.0	22.0					15																	75982969		2176	4245	6421	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982969A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.437T>C	15.37:g.75982969A>G	ENSP00000312506:p.Leu146Pro						p.L146P	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	529	-			146			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.437T>C	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684992	0.68157	.	.	ENSG00000173546	ENST00000308508	D	0.83837	-1.77	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.640591	0.14356	N	0.324763	D	0.90045	0.6891	M	0.82823	2.61	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	D	0.90553	0.4510	10	0.87932	D	0	.	13.4697	0.61276	1.0:0.0:0.0:0.0	.	146	Q6UVK1	CSPG4_HUMAN	P	146	ENSP00000312506:L146P	ENSP00000312506:L146P	L	-	2	0	CSPG4	73770024	1.000000	0.71417	0.991000	0.47740	0.772000	0.43724	8.904000	0.92590	1.873000	0.54277	0.454000	0.30748	CTC		0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		12	309	0	0	0	1	0	12	309				
HIC2	23119	broad.mit.edu	37	22	21800868	21800868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800868G>A	ENST00000443632.2	+	2	2056	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	HIC2_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_Missense_Mutation_p.A562T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	562					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAAGCCCTTCGCCTGCGATGA	0.632																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1684-1686)Gcc>Acc		hypermethylated in cancer 2							73.0	60.0	64.0					22																	21800868		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800868G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1684G>A	22.37:g.21800868G>A	ENSP00000387757:p.Ala562Thr					HIC2_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_Missense_Mutation_p.A562T	p.A562T			Q96JB3	HIC2_HUMAN			2	2056	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	562					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1684G>A	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370930	0.82573	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.14893	2.47;2.47;2.47	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	N	0.16266	0.395	0.58432	D	0.999991	D	0.89917	1.0	D	0.76071	0.987	T	0.04373	-1.0956	10	0.34782	T	0.22	.	15.4344	0.75133	0.0:0.0:1.0:0.0	.	562	Q96JB3	HIC2_HUMAN	T	562	ENSP00000385319:A562T;ENSP00000384889:A562T;ENSP00000387757:A562T	ENSP00000385319:A562T	A	+	1	0	HIC2	20130868	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.545000	0.82128	2.503000	0.84419	0.558000	0.71614	GCC		0.632	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			32	287	0	0	0	1	0	32	287				
ALX4	60529	broad.mit.edu	37	11	44296954	44296954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44296954C>T	ENST00000329255.3	-	2	824	c.721G>A	c.(721-723)Gtg>Atg	p.V241M		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	241					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCGCATACACGTCTGGGTAG	0.612																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(721-723)Gtg>Atg		ALX homeobox 4							108.0	107.0	107.0					11																	44296954		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44296954C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.721G>A	11.37:g.44296954C>T	ENSP00000332744:p.Val241Met						p.V241M	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			2	824	-			241					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.721G>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045191	0.75846	.	.	ENSG00000052850	ENST00000329255	D	0.96265	-3.96	3.74	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.136421	0.48767	D	0.000171	D	0.97879	0.9303	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97755	1.0217	10	0.38643	T	0.18	.	15.7255	0.77756	0.0:1.0:0.0:0.0	.	241	Q9H161	ALX4_HUMAN	M	241	ENSP00000332744:V241M	ENSP00000332744:V241M	V	-	1	0	ALX4	44253530	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.623000	0.83113	1.929000	0.55896	0.455000	0.32223	GTG		0.612	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			158	682	0	0	0	1	0	158	682				
MYO7A	4647	broad.mit.edu	37	11	76912528	76912528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912528G>A	ENST00000409709.3	+	36	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1630	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTTGCCAAGGGAGACCTCAT	0.597																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4888-4890)Gga>Aga		myosin VIIA							62.0	68.0	66.0					11																	76912528		2171	4246	6417	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912528G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4888G>A	11.37:g.76912528G>A	ENSP00000386331:p.Gly1630Arg					MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R	p.G1630R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5160	+			1630			SH3.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4888G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972120	0.92919	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.58	4.58	0.56647	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87699	0.2559	10	0.87932	D	0	.	17.5911	0.87997	0.0:0.0:1.0:0.0	.	1581;1592;1630	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	1630;1592;1581;803;1629;1599;1506;772;245	ENSP00000386331:G1630R;ENSP00000392185:G1592R;ENSP00000386635:G1581R;ENSP00000417017:G772R	ENSP00000345075:G1506R	G	+	1	0	MYO7A	76590176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.222000	0.95196	2.375000	0.81037	0.561000	0.74099	GGA		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		32	125	0	0	0	1	0	32	125				
TDRD1	56165	broad.mit.edu	37	10	115970351	115970351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115970351G>T	ENST00000369280.1	+	12	1856	c.1396G>T	c.(1396-1398)Gat>Tat	p.D466Y	TDRD1_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000251864.2_Missense_Mutation_p.D466Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	466					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGATCCTGAAGATGTTGGAAA	0.313																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1396-1398)Gat>Tat		tudor domain containing 1							84.0	81.0	82.0					10																	115970351		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115970351G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1396G>T	10.37:g.115970351G>T	ENSP00000358286:p.Asp466Tyr					TDRD1_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y	p.D466Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	12	1549	+		Colorectal(252;0.172)|Breast(234;0.188)	466					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1396G>T		.	.	.	.	.	.	.	.	.	.	G	16.31	3.087955	0.55968	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.19806	3.0;2.99;2.12;2.41;3.01	5.64	5.64	0.86602	.	0.670270	0.15592	N	0.254378	T	0.45377	0.1339	L	0.59436	1.845	0.36139	D	0.846662	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;1.0	D;D;D;D;D	0.78314	0.964;0.968;0.98;0.986;0.991	T	0.49513	-0.8932	10	0.72032	D	0.01	-11.957	16.8571	0.86009	0.0:0.0:1.0:0.0	.	127;466;466;466;466	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	466;466;466;127;466	ENSP00000358288:D466Y;ENSP00000251864:D466Y;ENSP00000358287:D466Y;ENSP00000402794:D127Y;ENSP00000358286:D466Y	ENSP00000251864:D466Y	D	+	1	0	TDRD1	115960341	0.184000	0.23200	0.763000	0.31416	0.653000	0.38743	2.407000	0.44565	2.637000	0.89404	0.563000	0.77884	GAT		0.313	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			7	176	1	0	8.12818e-05	1	8.2724e-05	7	176				
SYTL2	54843	broad.mit.edu	37	11	85435654	85435654	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85435654G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P616S|SYTL2_ENST00000354566.3_Missense_Mutation_p.P616S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.P1140S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACACCTGGGGCTGATAAGGA	0.478																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3418-3420)Ccc>Tcc		synaptotagmin-like 2							65.0	64.0	64.0					11																	85435654		2202	4299	6501	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435654G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3284C>T	11.37:g.85435654G>A						SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P616S|SYTL2_ENST00000354566.3_Missense_Mutation_p.P616S|SYTL2_ENST00000316356.4_Intron	p.P1140S	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3417	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	302					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.3418C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	2.144	-0.396190	0.04899	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.35048	1.8;1.8;1.8;1.33	6.06	0.333	0.15943	.	3.264550	0.00520	N	0.000181	T	0.19046	0.0457	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.10989	-1.0606	9	.	.	.	3.5706	4.3412	0.11110	0.3039:0.0:0.4587:0.2374	.	616;616;616	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	S	1140;616;616;35	ENSP00000352065:P1140S;ENSP00000346576:P616S;ENSP00000432694:P616S;ENSP00000435009:P35S	.	P	-	1	0	SYTL2	85113302	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	-0.162000	0.10964	-1.106000	0.02097	CCC		0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		71	325	0	0	0	1	0	71	325				
LRRC8A	56262	broad.mit.edu	37	9	131669896	131669896	+	Silent	SNP	G	G	A	rs138562691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131669896G>A	ENST00000259324.5	+	3	976	c.453G>A	c.(451-453)tcG>tcA	p.S151S	LRRC8A_ENST00000372600.4_Silent_p.S151S|LRRC8A_ENST00000372599.3_Silent_p.S151S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	151					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCACCAGCTCGAAGCTGGAGC	0.587																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(451-453)tcG>tcA		leucine rich repeat containing 8 family, member A		G	,,	1,4405	2.1+/-5.4	0,1,2202	66.0	65.0	65.0		453,453,453	-1.9	1.0	9	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	151/811,151/811,151/811	131669896	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669896G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.453G>A	9.37:g.131669896G>A						LRRC8A_ENST00000372600.4_Silent_p.S151S|LRRC8A_ENST00000372599.3_Silent_p.S151S	p.S151S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	976	+			151					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.453G>A	CCDS35155.1																																																																																				0.587	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		39	241	0	0	0	1	0	39	241				
PCDHA6	56142	broad.mit.edu	37	5	140208858	140208858	+	Silent	SNP	T	T	C	rs393935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140208858T>C	ENST00000529310.1	+	1	1296	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTCCCTTTCAAGCTGG	0.562																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1180-1182)ccT>ccC									182.0	170.0	174.0					5																	140208858		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140208858T>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1182T>C	5.37:g.140208858T>C						PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P394P	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1296	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1182T>C	CCDS47281.1																																																																																				0.562	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		25	1243	0	0	0	1	0	25	1243				
HSP90AB2P	391634	broad.mit.edu	37	4	13338557	13338557	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13338557A>G	ENST00000602906.1	+	0	448							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						AAGCCCAATGATGATGGCATG	0.493																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13338557A>G	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338557A>G														0	448	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.493	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			60	263	0	0	0	1	0	60	263				
SLC6A11	6538	broad.mit.edu	37	3	10953823	10953823	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10953823C>A	ENST00000254488.2	+	7	1006	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	314					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGCCATTTGCCTGGGCTGTCT	0.493																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(940-942)Ctg>Atg		solute carrier family 6 (neurotransmitter transporter), member 11							182.0	179.0	180.0					3																	10953823		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10953823C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.940C>A	3.37:g.10953823C>A	ENSP00000254488:p.Leu314Met						p.L314M	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	7	1006	+			314					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.940C>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718187	0.68844	.	.	ENSG00000132164	ENST00000254488	T	0.76839	-1.05	4.78	3.89	0.44902	.	0.000000	0.64402	D	0.000002	T	0.81721	0.4882	M	0.73372	2.23	0.80722	D	1	P	0.43701	0.815	P	0.50537	0.643	D	0.84237	0.0470	10	0.72032	D	0.01	.	12.3503	0.55144	0.0:0.9177:0.0:0.0822	.	314	P48066	S6A11_HUMAN	M	314	ENSP00000254488:L314M	ENSP00000254488:L314M	L	+	1	2	SLC6A11	10928823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.717000	0.47227	2.189000	0.69895	0.462000	0.41574	CTG		0.493	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		140	648	1	0	1.9399e-66	1	2.45505e-66	140	648				
KRT16	3868	broad.mit.edu	37	17	39767452	39767452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39767452C>T	ENST00000301653.4	-	4	866	c.802G>A	c.(802-804)Gga>Aga	p.G268R		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	268	Linker 12.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TTCACATCTCCGCCGGTCTGA	0.592																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(802-804)Gga>Aga		keratin 16							84.0	71.0	75.0					17																	39767452		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767452C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.802G>A	17.37:g.39767452C>T	ENSP00000301653:p.Gly268Arg						p.G268R	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			4	866	-		Breast(137;0.000307)	268			Linker 12.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.802G>A	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859297	0.51376	.	.	ENSG00000186832	ENST00000301653	D	0.89196	-2.48	4.79	4.79	0.61399	Filament (1);	0.000000	0.52532	D	0.000080	D	0.94414	0.8203	M	0.79258	2.445	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.95138	0.8261	10	0.87932	D	0	.	17.809	0.88610	0.0:1.0:0.0:0.0	.	268	P08779	K1C16_HUMAN	R	268	ENSP00000301653:G268R	ENSP00000301653:G268R	G	-	1	0	KRT16	37020978	1.000000	0.71417	0.913000	0.36048	0.014000	0.08584	7.818000	0.86416	2.371000	0.80710	0.462000	0.41574	GGA		0.592	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		76	355	0	0	0	1	0	76	355				
FRMPD4	9758	broad.mit.edu	37	X	12735057	12735057	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12735057G>A	ENST00000380682.1	+	15	2985	c.2479G>A	c.(2479-2481)Gca>Aca	p.A827T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	827					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGAGCCAGGCAGCTTCCTT	0.562																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2479-2481)Gca>Aca		FERM and PDZ domain containing 4							105.0	86.0	92.0					X																	12735057		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735057G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2479G>A	X.37:g.12735057G>A	ENSP00000370057:p.Ala827Thr						p.A827T	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	2985	+			827					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2479G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751744	0.31046	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.32515	1.45	5.26	4.38	0.52667	.	0.390669	0.26769	N	0.022586	T	0.22437	0.0541	L	0.40543	1.245	0.29218	N	0.874119	B;B	0.18863	0.031;0.031	B;B	0.15870	0.014;0.01	T	0.06734	-1.0810	10	0.44086	T	0.13	.	6.6097	0.22745	0.1509:0.0:0.6928:0.1562	.	819;827	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	827;818;816	ENSP00000370057:A827T	ENSP00000304583:A816T	A	+	1	0	FRMPD4	12644978	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	2.658000	0.46733	2.334000	0.79466	0.600000	0.82982	GCA		0.562	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		105	323	0	0	0	1	0	105	323				
OR2C1	4993	broad.mit.edu	37	16	3406685	3406685	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3406685T>C	ENST00000304936.2	+	1	797	c.745T>C	c.(745-747)Ttc>Ctc	p.F249L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	249					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTGGTGGTGTTCCTCTTCTA	0.542																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(745-747)Ttc>Ctc		olfactory receptor, family 2, subfamily C, member 1							151.0	124.0	134.0					16																	3406685		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406685T>C	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.745T>C	16.37:g.3406685T>C	ENSP00000307726:p.Phe249Leu						p.F249L	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	797	+			249					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.745T>C	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	t	2.689	-0.273511	0.05679	.	.	ENSG00000168158	ENST00000304936	T	0.34072	1.38	5.0	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	1.444030	0.05098	N	0.486474	T	0.18087	0.0434	N	0.05031	-0.125	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.23691	-1.0181	10	0.49607	T	0.09	.	5.3433	0.15996	0.0:0.2708:0.2594:0.4699	.	249	O95371	OR2C1_HUMAN	L	249	ENSP00000307726:F249L	ENSP00000307726:F249L	F	+	1	0	OR2C1	3346686	0.000000	0.05858	0.244000	0.24202	0.114000	0.19823	-0.662000	0.05305	-0.504000	0.06577	-1.288000	0.01363	TTC		0.542	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			106	352	0	0	0	1	0	106	352				
GPATCH1	55094	broad.mit.edu	37	19	33588747	33588747	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33588747C>T	ENST00000170564.2	+	8	1253	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	313					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTCTGAAGGACGAGGAGCCTG	0.463																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(937-939)gaC>gaT		G patch domain containing 1							191.0	191.0	191.0					19																	33588747		2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33588747C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.939C>T	19.37:g.33588747C>T							p.D313D	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			8	1253	+	Esophageal squamous(110;0.137)		313					Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.939C>T	CCDS12428.1																																																																																				0.463	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		170	933	0	0	0	1	0	170	933				
IFFO1	25900	broad.mit.edu	37	12	6664931	6664931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6664931C>T	ENST00000396840.2	-	1	306	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	IFFO1_ENST00000336604.4_Missense_Mutation_p.A89T|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	89						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCACCTTGGCCAGGAAGCAG	0.687																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(265-267)Gcc>Acc		intermediate filament family orphan 1							42.0	45.0	44.0					12																	6664931		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6664931C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.265G>A	12.37:g.6664931C>T	ENSP00000380052:p.Ala89Thr					IFFO1_ENST00000396840.2_Missense_Mutation_p.A89T|IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T	p.A89T	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			1	306	-			89					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.265G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.281834	0.95489	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.95980	-3.87;-3.87;-3.87	4.22	4.22	0.49857	.	0.254984	0.23266	N	0.050068	D	0.94551	0.8245	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.43094	0.799;0.799;0.799;0.799	P;P;P;P	0.44811	0.461;0.461;0.461;0.461	D	0.95380	0.8472	10	0.87932	D	0	-16.8933	15.5044	0.75725	0.0:1.0:0.0:0.0	.	89;89;89;89	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	89	ENSP00000337593:A89T;ENSP00000380052:A89T;ENSP00000349364:A89T	ENSP00000337593:A89T	A	-	1	0	IFFO1	6535192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.614000	0.74197	2.172000	0.68678	0.561000	0.74099	GCC		0.687	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		37	299	0	0	0	1	0	37	299				
TRIM60	166655	broad.mit.edu	37	4	165962546	165962546	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:165962546A>G	ENST00000512596.1	+	3	1538	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S|TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	441	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATACTTTTAACGATTGTTTC	0.343																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1321-1323)aAc>aGc		tripartite motif containing 60							63.0	70.0	68.0					4																	165962546		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165962546A>G	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1322A>G	4.37:g.165962546A>G	ENSP00000421142:p.Asn441Ser					TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S|TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S	p.N441S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1538	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	441			B30.2/SPRY.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.1322A>G	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.329548	0.01298	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.66995	-0.24;-0.24;-0.24	2.69	-5.28	0.02755	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.284280	0.06150	N	0.674012	T	0.31979	0.0814	N	0.02685	-0.53	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35773	-0.9775	10	0.05620	T	0.96	.	6.4852	0.22085	0.2125:0.2887:0.4988:0.0	.	441	Q495X7	TRI60_HUMAN	S	441	ENSP00000421142:N441S;ENSP00000426496:N441S;ENSP00000343765:N441S	ENSP00000343765:N441S	N	+	2	0	TRIM60	166181996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.427000	0.06999	-1.292000	0.02366	-0.256000	0.11100	AAC		0.343	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		72	296	0	0	0	1	0	72	296				
ZBTB38	253461	broad.mit.edu	37	3	141163405	141163405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163405G>A	ENST00000514251.1	+	4	2454	c.2175G>A	c.(2173-2175)tcG>tcA	p.S725S	ZBTB38_ENST00000321464.5_Silent_p.S726S|ZBTB38_ENST00000441582.2_Silent_p.S725S					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTTTTCATCGGTGATCATGC	0.502																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2173-2175)tcG>tcA		zinc finger and BTB domain containing 38							73.0	75.0	74.0					3																	141163405		2063	4206	6269	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163405G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2175G>A	3.37:g.141163405G>A						ZBTB38_ENST00000441582.2_Silent_p.S725S|ZBTB38_ENST00000321464.5_Silent_p.S726S	p.S725S			Q8NAP3	ZBT38_HUMAN			4	2454	+			725						Silent	SNP	ENST00000514251.1	37	c.2175G>A	CCDS43157.1																																																																																				0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			86	325	0	0	0	1	0	86	325				
SUPT16H	11198	broad.mit.edu	37	14	21830444	21830444	+	Nonsense_Mutation	SNP	G	G	A	rs143235888		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21830444G>A	ENST00000216297.2	-	15	2043	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	569					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGTTGATTCGCAAGTAAGTA	0.398																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1705-1707)Cga>Tga		suppressor of Ty 16 homolog (S. cerevisiae)							66.0	61.0	62.0					14																	21830444		2203	4300	6503	SO:0001587	stop_gained	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21830444G>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1705C>T	14.37:g.21830444G>A	ENSP00000216297:p.Arg569*						p.R569*	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	15	2043	-	all_cancers(95;0.00115)		569					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Nonsense_Mutation	SNP	ENST00000216297.2	37	c.1705C>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	41	8.835193	0.98972	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8971	9.2709	0.37670	0.0:0.1376:0.5956:0.2667	.	.	.	.	X	569	.	ENSP00000216297:R569X	R	-	1	2	SUPT16H	20900284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.346000	0.52190	1.400000	0.46741	0.650000	0.86243	CGA		0.398	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			51	188	0	0	0	1	0	51	188				
AK3	50808	broad.mit.edu	37	9	4719298	4719298	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4719298C>A	ENST00000381809.3	-	3	511	c.281G>T	c.(280-282)aGg>aTg	p.R94M	AK3_ENST00000447596.4_Missense_Mutation_p.R54M|AK3_ENST00000359883.2_Missense_Mutation_p.R24M	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	92					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	TGGAAGTGTCCTTGGAAAACC	0.418																																						ENST00000381809.3																			0				large_intestine(2)|lung(1)|ovary(2)	5						c.(280-282)aGg>aTg		adenylate kinase 3							51.0	46.0	48.0					9																	4719298		2203	4300	6503	SO:0001583	missense	50808				blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity	g.chr9:4719298C>A	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.281G>T	9.37:g.4719298C>A	ENSP00000371230:p.Arg94Met					AK3_ENST00000447596.4_Missense_Mutation_p.R54M|AK3_ENST00000359883.2_Missense_Mutation_p.R24M	p.R94M	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN		GBM - Glioblastoma multiforme(50;0.0302)	3	511	-	all_hematologic(13;0.137)	Breast(48;0.238)	94					B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	37	c.281G>T	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351724	0.82132	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	D;D;D	0.87103	-2.21;-2.21;-2.21	5.66	4.75	0.60458	.	0.043780	0.85682	D	0.000000	D	0.96648	0.8906	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98528	1.0626	10	0.87932	D	0	-19.0572	15.9198	0.79552	0.1364:0.8636:0.0:0.0	.	54;94	E7ET30;Q9UIJ7	.;KAD3_HUMAN	M	94;24;24;54	ENSP00000371230:R94M;ENSP00000352948:R24M;ENSP00000413933:R54M	ENSP00000352948:R24M	R	-	2	0	AK3	4709298	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.407000	0.80029	1.377000	0.46286	0.655000	0.94253	AGG		0.418	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282		22	205	1	0	5.26018e-13	1	5.6673e-13	22	205				
SEPT1	1731	broad.mit.edu	37	16	30392552	30392552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30392552C>A	ENST00000571393.1	-	7	640	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y|SEPT1_ENST00000321367.3_Missense_Mutation_p.D199Y			Q8WYJ6	SEPT1_HUMAN	septin 1	152	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AAGGCCACATCTAGGGGCCGG	0.632																																						ENST00000321367.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24						c.(595-597)Gat>Tat		septin 1							93.0	89.0	90.0					16																	30392552		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30392552C>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.454G>T	16.37:g.30392552C>A	ENSP00000460441:p.Asp152Tyr					SEPT1_ENST00000571393.1_Missense_Mutation_p.D152Y|SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y	p.D199Y	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		7	640	-			152					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.595G>T		.	.	.	.	.	.	.	.	.	.	C	19.04	3.748985	0.69533	.	.	ENSG00000180096	ENST00000321367	.	.	.	6.07	6.07	0.98685	.	0.175497	0.39909	N	0.001224	D	0.90256	0.6953	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92568	0.6064	9	0.87932	D	0	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	152	Q8WYJ6	SEPT1_HUMAN	Y	152	.	ENSP00000324511:D152Y	D	-	1	0	SEPT1	30300053	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.783000	0.85696	2.884000	0.98904	0.655000	0.94253	GAT		0.632	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		113	385	1	0	1.00382e-66	1	1.27077e-66	113	385				
FMO5	2330	broad.mit.edu	37	1	146672826	146672826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146672826G>A	ENST00000254090.4	-	7	1479	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L	RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P364L|FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	364						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGCAAGAGTTGGCCTTTCCAG	0.453																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(1090-1092)cCa>cTa		flavin containing monooxygenase 5							122.0	120.0	120.0					1																	146672826		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146672826G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1091C>T	1.37:g.146672826G>A	ENSP00000254090:p.Pro364Leu					FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P364L	p.P364L	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			7	1479	-	all_hematologic(923;0.0487)		364					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.1091C>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	31	5.073679	0.94000	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.60424	0.19;0.19	6.17	6.17	0.99709	.	0.101544	0.64402	D	0.000001	T	0.82001	0.4942	H	0.95079	3.62	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.77004	0.989;0.9	D	0.85815	0.1382	10	0.72032	D	0.01	-13.6878	18.3732	0.90420	0.0:0.0:1.0:0.0	.	364;364	P49326;C9JJD1	FMO5_HUMAN;.	L	364	ENSP00000416011:P364L;ENSP00000254090:P364L	ENSP00000254090:P364L	P	-	2	0	FMO5	145139450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.848000	0.99507	2.941000	0.99782	0.655000	0.94253	CCA		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		34	272	0	0	0	1	0	34	272				
CEP128	145508	broad.mit.edu	37	14	81329141	81329141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81329141C>T	ENST00000555265.1	-	9	1097	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CEP128_ENST00000281129.3_Missense_Mutation_p.R241H|CEP128_ENST00000216517.6_Missense_Mutation_p.R241H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	241						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGATCCTGGCGTCTTTCCAC	0.463																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(721-723)cGc>cAc		centrosomal protein 128kDa							136.0	117.0	124.0					14																	81329141		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81329141C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.722G>A	14.37:g.81329141C>T	ENSP00000451162:p.Arg241His					CEP128_ENST00000281129.3_Missense_Mutation_p.R241H|CEP128_ENST00000216517.6_Missense_Mutation_p.R241H	p.R241H			Q6ZU80	CE128_HUMAN			9	1097	-			241					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.722G>A	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.96|14.96	2.692058|2.692058	0.48097|0.48097	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000554827|ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	.|T;T;T	.|0.55930	.|1.13;1.13;0.49	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.155258	.|0.45606	.|D	.|0.000341	T|T	0.59252|0.59252	0.2180|0.2180	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.67145	.|0.925;0.988;0.996	.|B;P;P	.|0.57371	.|0.271;0.737;0.819	T|T	0.53913|0.53913	-0.8371|-0.8371	5|10	.|0.33940	.|T	.|0.23	.|.	12.7223|12.7223	0.57149|0.57149	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|241;122;241	.|Q6ZU80-3;Q8N3Z7;Q6ZU80	.|.;.;CE128_HUMAN	T|H	120|241	.|ENSP00000281129:R241H;ENSP00000451162:R241H;ENSP00000216517:R241H	.|ENSP00000216517:R241H	A|R	-|-	1|2	0|0	CEP128|CEP128	80398894|80398894	0.924000|0.924000	0.31332|0.31332	0.947000|0.947000	0.38551|0.38551	0.019000|0.019000	0.09904|0.09904	1.774000|1.774000	0.38573|0.38573	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.463	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		93	443	0	0	0	1	0	93	443				
DZIP1L	199221	broad.mit.edu	37	3	137787054	137787054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787054C>T	ENST00000327532.2	-	13	2133	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	591					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGGCGTGGAGCGGGGGCGGAC	0.697																																						ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1771-1773)Gct>Act		DAZ interacting zinc finger protein 1-like							44.0	49.0	47.0					3																	137787054		2203	4299	6502	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137787054C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1771G>A	3.37:g.137787054C>T	ENSP00000332148:p.Ala591Thr						p.A591T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			13	2133	-			591					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.1771G>A	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	6.214	0.407542	0.11754	.	.	ENSG00000158163	ENST00000327532	T	0.38560	1.13	4.91	-0.64	0.11493	.	0.988360	0.08252	N	0.974395	T	0.17746	0.0426	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.24483	T	0.36	0.5692	7.6678	0.28441	0.0:0.3723:0.0:0.6277	.	591	Q8IYY4	DZI1L_HUMAN	T	591	ENSP00000332148:A591T	ENSP00000332148:A591T	A	-	1	0	DZIP1L	139269744	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.192000	0.03052	-0.198000	0.10333	-0.300000	0.09419	GCT		0.697	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		74	292	0	0	0	1	0	74	292				
GRPEL1	80273	broad.mit.edu	37	4	7062915	7062915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062915C>T	ENST00000264954.4	-	4	492	c.328G>A	c.(328-330)Gac>Aac	p.D110N	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	110					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCAACAAGTCCTTGCAGAAG	0.468																																						ENST00000264954.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(328-330)Gac>Aac		GrpE-like 1, mitochondrial (E. coli)							82.0	84.0	84.0					4																	7062915		2203	4300	6503	SO:0001583	missense	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7062915C>T	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.328G>A	4.37:g.7062915C>T	ENSP00000264954:p.Asp110Asn					GRPEL1_ENST00000514056.1_5'UTR	p.D110N	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN			4	492	-			110					B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	37	c.328G>A	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162717	0.94727	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.53	5.53	0.82687	GrpE nucleotide exchange factor, coiled-coil (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85677	0.1298	9	0.66056	D	0.02	.	19.4473	0.94852	0.0:1.0:0.0:0.0	.	110	Q9HAV7	GRPE1_HUMAN	N	110;89	.	ENSP00000264954:D110N	D	-	1	0	GRPEL1	7113816	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.312000	0.78968	2.590000	0.87494	0.462000	0.41574	GAC		0.468	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196		16	456	0	0	0	1	0	16	456				
PCNXL2	80003	broad.mit.edu	37	1	233122221	233122221	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233122221G>A	ENST00000258229.9	-	33	6091	c.5857C>T	c.(5857-5859)Ctg>Ttg	p.L1953L	PCNXL2_ENST00000344698.2_Silent_p.L605L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1953	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGAGCTCAGCATGGGCGGC	0.602																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5857-5859)Ctg>Ttg		pecanex-like 2 (Drosophila)							20.0	26.0	24.0					1																	233122221		2083	4203	6286	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233122221G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5857C>T	1.37:g.233122221G>A						PCNXL2_ENST00000344698.2_Silent_p.L605L	p.L1953L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			33	6091	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1953			Ser-rich.		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.5857C>T	CCDS44335.1																																																																																				0.602	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		13	66	0	0	0	1	0	13	66				
FAM9B	171483	broad.mit.edu	37	X	9001030	9001030	+	5'UTR	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9001030A>C	ENST00000327220.5	-	0	362				FAM9B_ENST00000362066.3_Missense_Mutation_p.F45V|FAM9B_ENST00000428477.1_5'UTR			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B							nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GCCGCCATAAATTGAGCCTCC	0.602																																						ENST00000362066.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(133-135)Ttt>Gtt		family with sequence similarity 9, member B							100.0	69.0	79.0					X																	9001030		2203	4300	6503	SO:0001623	5_prime_UTR_variant	171483					nucleus		g.chrX:9001030A>C		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.-3T>G	X.37:g.9001030A>C						FAM9B_ENST00000428477.1_5'UTR|FAM9B_ENST00000327220.5_5'UTR	p.F45V			Q8IZU0	FAM9B_HUMAN			1	321	-		Hepatocellular(5;0.219)	0					Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	c.133T>G	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.544660	0.00142	.	.	ENSG00000177138	ENST00000362066	.	.	.	0.235	-0.47	0.12131	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.09310	N	0.999999	B	0.23377	0.084	B	0.13407	0.009	T	0.27606	-1.0069	6	0.13108	T	0.6	.	.	.	.	.	45	Q8N7Z8	.	V	45	.	ENSP00000354770:F45V	F	-	1	0	FAM9B	8961030	0.001000	0.12720	0.030000	0.17652	0.031000	0.12232	-1.743000	0.01834	-0.979000	0.03529	-1.005000	0.02491	TTT		0.602	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		61	204	0	0	0	1	0	61	204				
ZIC4	84107	broad.mit.edu	37	3	147114031	147114031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114031C>T	ENST00000383075.3	-	3	808	c.296G>A	c.(295-297)gGg>gAg	p.G99E	ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	99						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTTCATGCCCCCGTAGCCATG	0.692																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(295-297)gGg>gAg		Zic family member 4							17.0	22.0	20.0					3																	147114031		2147	4266	6413	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114031C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.296G>A	3.37:g.147114031C>T	ENSP00000372553:p.Gly99Glu					ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E|ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000491672.1_Intron	p.G99E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	808	-			99					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.296G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902339	0.92035	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.98	4.98	0.66077	.	0.000000	0.47093	D	0.000258	T	0.59445	0.2194	M	0.68593	2.085	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.57009	0.621;0.811	T	0.64158	-0.6473	10	0.66056	D	0.02	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	149;99	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	99;137;149;99;99;99	ENSP00000372553:G99E;ENSP00000397695:G137E;ENSP00000435509:G149E;ENSP00000417855:G99E;ENSP00000420775:G99E;ENSP00000420627:G99E	ENSP00000372553:G99E	G	-	2	0	ZIC4	148596721	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GGG		0.692	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			46	158	0	0	0	1	0	46	158				
GRB10	2887	broad.mit.edu	37	7	50685801	50685801	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50685801C>T	ENST00000401949.1	-	10	1282	c.813G>A	c.(811-813)caG>caA	p.Q271Q	GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000403097.1_Silent_p.Q265Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000398810.2_Silent_p.Q213Q|GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000335866.3_Silent_p.Q213Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	271					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CATTTGACTGCTGGCACCAAG	0.403									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(793-795)caG>caA		growth factor receptor-bound protein 10							98.0	92.0	94.0					7																	50685801		1846	4099	5945	SO:0001819	synonymous_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50685801C>T		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.813G>A	7.37:g.50685801C>T						GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000401949.1_Silent_p.Q271Q|GRB10_ENST00000335866.3_Silent_p.Q213Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000398810.2_Silent_p.Q213Q	p.Q265Q			Q13322	GRB10_HUMAN			9	1575	-	Glioma(55;0.08)|all_neural(89;0.245)		271					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.795G>A	CCDS43582.1																																																																																				0.403	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			64	249	0	0	0	1	0	64	249				
ABCF3	55324	broad.mit.edu	37	3	183911153	183911153	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183911153C>T	ENST00000429586.2	+	20	2069	c.1884C>T	c.(1882-1884)tgC>tgT	p.C628C	ABCF3_ENST00000292808.5_Splice_Site_p.C622C|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	628	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCTTCCAGCCCCAACTTCT	0.522																																						ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.e20-1		ATP-binding cassette, sub-family F (GCN20), member 3							126.0	120.0	122.0					3																	183911153		2203	4300	6503	SO:0001630	splice_region_variant	55324						ATP binding|ATPase activity	g.chr3:183911153C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1884-1C>T	3.37:g.183911153C>T						EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Splice_Site_p.C622_splice	p.C628_splice	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	2069	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		628			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Splice_Site	SNP	ENST00000429586.2	37	c.1883_splice	CCDS3254.1																																																																																				0.522	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	Silent	95	510	0	0	0	1	0	95	510				
CCDC42	146849	broad.mit.edu	37	17	8633478	8633478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8633478T>G	ENST00000293845.3	-	7	1147	c.921A>C	c.(919-921)aaA>aaC	p.K307N	CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	307										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTTCCTTCTTTTTCACCTCTG	0.542																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(919-921)aaA>aaC		coiled-coil domain containing 42							120.0	100.0	107.0					17																	8633478		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8633478T>G	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.921A>C	17.37:g.8633478T>G	ENSP00000293845:p.Lys307Asn					CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	p.K307N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			7	1147	-			307					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.921A>C	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568810	0.45798	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.30981	1.68;1.51	5.29	3.31	0.37934	.	0.088480	0.48767	D	0.000163	T	0.26085	0.0636	L	0.52573	1.65	0.29275	N	0.87043	P	0.36282	0.546	B	0.35550	0.205	T	0.16158	-1.0412	10	0.54805	T	0.06	-43.6762	8.4957	0.33127	0.0:0.8159:0.0:0.1841	.	307	Q96M95	CCD42_HUMAN	N	307;233	ENSP00000293845:K307N;ENSP00000444359:K233N	ENSP00000293845:K307N	K	-	3	2	CCDC42	8574203	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	0.435000	0.21510	0.797000	0.33971	-0.242000	0.12053	AAA		0.542	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		49	184	0	0	0	1	0	49	184				
SND1	27044	broad.mit.edu	37	7	127714631	127714631	+	Silent	SNP	C	C	T	rs138799870	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127714631C>T	ENST00000354725.3	+	17	2051	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	619	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAACCTGTCCGTCCTGCTGG	0.617																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1855-1857)tcC>tcT		staphylococcal nuclease and tudor domain containing 1		C		0,4406		0,0,2203	105.0	67.0	80.0		1857	-4.7	1.0	7	dbSNP_134	80	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous	SND1	NM_014390.2		0,12,6491	TT,TC,CC		0.1395,0.0,0.0923		619/911	127714631	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127714631C>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1857C>T	7.37:g.127714631C>T							p.S619S	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			17	2051	+			619			TNase-like 4.		Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.1857C>T	CCDS34747.1																																																																																				0.617	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		19	136	0	0	0	1	0	19	136				
GABBR2	9568	broad.mit.edu	37	9	101125090	101125090	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101125090G>A	ENST00000259455.2	-	13	2259	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	600					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGCCCCCCACGATCACAAGCA	0.592																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(1798-1800)atC>atT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						90.0	71.0	77.0					9																	101125090		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101125090G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1800C>T	9.37:g.101125090G>A							p.I600I	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			13	2259	-		Acute lymphoblastic leukemia(62;0.0527)	600					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.1800C>T	CCDS6736.1																																																																																				0.592	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			9	193	0	0	0	1	0	9	193				
NLRC3	197358	broad.mit.edu	37	16	3614177	3614177	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614177C>T	ENST00000301749.7	-	0	1166				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTTGCCACGGATGATGTT	0.602																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							68.0	75.0	73.0					16																	3614177		2019	4173	6192			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614177C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614177C>T						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1166	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	16.94	3.259544	0.59321	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.89065	0.6609	.	.	.	0.27180	N	0.960699	D	0.89917	1.0	D	0.91635	0.999	D	0.83701	0.0182	9	0.72032	D	0.01	.	15.6704	0.77270	0.0:1.0:0.0:0.0	.	301	C9JLH9	.	H	254;254;254;301;236	ENSP00000301749:R254H;ENSP00000352039:R254H;ENSP00000414415:R301H;ENSP00000323897:R236H	ENSP00000301749:R254H	R	-	2	0	NLRC3	3554178	1.000000	0.71417	0.620000	0.29132	0.359000	0.29487	4.890000	0.63178	2.273000	0.75805	0.655000	0.94253	CGT		0.602	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		11	180	0	0	0	1	0	11	180				
MAGEE1	57692	broad.mit.edu	37	X	75650590	75650590	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75650590T>G	ENST00000361470.2	+	1	2545	c.2267T>G	c.(2266-2268)tTt>tGt	p.F756C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	756	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGCAGTTATTTCTGCTTATG	0.463																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(2266-2268)tTt>tGt		melanoma antigen family E, 1							79.0	69.0	72.0					X																	75650590		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650590T>G	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2267T>G	X.37:g.75650590T>G	ENSP00000354912:p.Phe756Cys						p.F756C	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2545	+			756			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2267T>G	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	11.93	1.787028	0.31593	.	.	ENSG00000198934	ENST00000361470	T	0.04970	3.52	2.52	1.24	0.21308	.	.	.	.	.	T	0.10508	0.0257	N	0.24115	0.695	0.20196	N	0.999928	D	0.76494	0.999	D	0.79108	0.992	T	0.25117	-1.0141	9	0.87932	D	0	.	4.0955	0.09988	0.3819:0.0:0.0:0.6181	.	756	Q9HCI5	MAGE1_HUMAN	C	756	ENSP00000354912:F756C	ENSP00000354912:F756C	F	+	2	0	MAGEE1	75566994	1.000000	0.71417	0.443000	0.26883	0.996000	0.88848	1.535000	0.36061	0.218000	0.20820	0.486000	0.48141	TTT		0.463	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		81	261	0	0	0	1	0	81	261				
SEPT5	5413	broad.mit.edu	37	22	19707735	19707735	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19707735C>T	ENST00000455784.2	+	5	461	c.336C>T	c.(334-336)ttC>ttT	p.F112F	SEPT5_ENST00000438754.2_Silent_p.F121F|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Silent_p.F112F|SEPT5_ENST00000383045.3_Silent_p.F121F	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	112	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGCCGGGATTCGGGGACGCTG	0.592																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(361-363)ttC>ttT		septin 5							110.0	91.0	97.0					22																	19707735		2202	4300	6502	SO:0001819	synonymous_variant	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19707735C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.336C>T	22.37:g.19707735C>T						SEPT5_ENST00000383045.3_Silent_p.F121F|SEPT5_ENST00000455784.2_Silent_p.F112F|SEPT5_ENST00000406395.1_Silent_p.F112F	p.F121F	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			4	643	+	Colorectal(54;0.0993)		112					O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	c.363C>T	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	C	3.617	-0.078448	0.07184	.	.	ENSG00000184702	ENST00000413258	.	.	.	3.89	-1.62	0.08372	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50939	-0.8768	4	.	.	.	.	9.162	0.37028	0.0:0.2228:0.0:0.7772	.	.	.	.	W	9	.	.	R	+	1	2	SEPT5	18087735	0.199000	0.23386	0.544000	0.28141	0.106000	0.19336	-0.505000	0.06367	-0.093000	0.12396	0.455000	0.32223	CGG		0.592	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		31	169	0	0	0	1	0	31	169				
ARL4D	379	broad.mit.edu	37	17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477126C>T	ENST00000320033.4	+	2	233	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	9					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572																																						ENST00000320033.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(25-27)gCg>gTg		ADP-ribosylation factor-like 4D							70.0	68.0	68.0					17																	41477126		2203	4300	6503	SO:0001583	missense	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477126C>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.26C>T	17.37:g.41477126C>T	ENSP00000322628:p.Ala9Val						p.A9V	NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	233	+		Breast(137;0.00908)	9					B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	37	c.26C>T	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892269	0.52014	.	.	ENSG00000175906	ENST00000320033	T	0.75367	-0.93	4.82	4.82	0.62117	.	0.137736	0.48286	D	0.000187	T	0.62684	0.2448	L	0.52266	1.64	0.58432	D	0.999994	P	0.47253	0.892	B	0.29663	0.105	T	0.67546	-0.5643	10	0.35671	T	0.21	-10.645	15.2659	0.73660	0.0:1.0:0.0:0.0	.	9	P49703	ARL4D_HUMAN	V	9	ENSP00000322628:A9V	ENSP00000322628:A9V	A	+	2	0	ARL4D	38832652	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.008000	0.63991	2.643000	0.89663	0.563000	0.77884	GCG		0.572	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		85	288	0	0	0	1	0	85	288				
ZFHX4	79776	broad.mit.edu	37	8	77764149	77764149	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764149T>A	ENST00000521891.2	+	10	5440	c.4992T>A	c.(4990-4992)caT>caA	p.H1664Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1619	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGATACCCATTTAGATGCCA	0.448										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4990-4992)caT>caA		zinc finger homeobox 4							89.0	87.0	87.0					8																	77764149		1935	4134	6069	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764149T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4992T>A	8.37:g.77764149T>A	ENSP00000430497:p.His1664Gln	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q	p.H1664Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5440	+			1619			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4992T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410196	0.25465	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46063	0.88;0.93;0.9;0.89	4.41	2.47	0.30058	.	0.000000	0.46442	U	0.000296	T	0.26195	0.0639	L	0.44542	1.39	0.37302	D	0.908734	B;B;B	0.29508	0.159;0.246;0.246	B;B;B	0.26416	0.031;0.069;0.069	T	0.07731	-1.0757	10	0.13470	T	0.59	.	4.5736	0.12223	0.0:0.4457:0.0:0.5543	.	1619;1619;1664	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1664;1664;1619;1619;1638	ENSP00000430497:H1664Q;ENSP00000399605:H1619Q;ENSP00000050961:H1619Q;ENSP00000430848:H1638Q	ENSP00000050961:H1619Q	H	+	3	2	ZFHX4	77926704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.937000	0.28951	1.104000	0.41587	0.443000	0.29094	CAT		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		40	350	0	0	0	1	0	40	350				
SMARCAL1	50485	broad.mit.edu	37	2	217279897	217279897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217279897C>T	ENST00000357276.4	+	3	800	c.470C>T	c.(469-471)aCa>aTa	p.T157I	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	157					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCAGGTTCACACCCTTTGCT	0.507									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(469-471)aCa>aTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							131.0	124.0	126.0					2																	217279897		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279897C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.470C>T	2.37:g.217279897C>T	ENSP00000349823:p.Thr157Ile					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I	p.T157I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	800	+		Renal(323;0.0458)	157					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.470C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144706	0.21288	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	T;T;T;D	0.87103	1.95;1.95;1.27;-2.21	4.69	1.94	0.25998	.	0.444855	0.22869	N	0.054653	T	0.74574	0.3734	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63825	-0.6549	10	0.52906	T	0.07	.	9.1742	0.37100	0.0:0.7637:0.0:0.2363	.	157	Q9NZC9	SMAL1_HUMAN	I	157;157;56;21	ENSP00000349823:T157I;ENSP00000350940:T157I;ENSP00000392997:T56I;ENSP00000375974:T21I	ENSP00000349823:T157I	T	+	2	0	SMARCAL1	216988142	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.432000	0.21461	0.234000	0.21139	-0.137000	0.14449	ACA		0.507	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			147	433	0	0	0	1	0	147	433				
ZNF621	285268	broad.mit.edu	37	3	40571782	40571782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40571782C>T	ENST00000339296.5	+	4	686	c.234C>T	c.(232-234)acC>acT	p.T78T	ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000403205.2_Silent_p.T78T|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000310898.1_Silent_p.T78T	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGGGACACCGAGATTCTGA	0.488																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(232-234)acC>acT		zinc finger protein 621							123.0	117.0	119.0					3																	40571782		2203	4300	6503	SO:0001819	synonymous_variant	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40571782C>T	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.234C>T	3.37:g.40571782C>T						ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000310898.1_Silent_p.T78T|ZNF621_ENST00000403205.2_Silent_p.T78T|ZNF621_ENST00000431278.1_5'UTR	p.T78T	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	4	686	+			78			KRAB.		Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	37	c.234C>T	CCDS2693.1																																																																																				0.488	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		64	273	0	0	0	1	0	64	273				
NOS2	4843	broad.mit.edu	37	17	26101354	26101354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26101354A>G	ENST00000313735.6	-	12	1638	c.1405T>C	c.(1405-1407)Tct>Cct	p.S469P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	469					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	ATGCTCCCAGACATGGGAGGG	0.562																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(1405-1407)Tct>Cct		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						94.0	86.0	88.0					17																	26101354		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26101354A>G	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1405T>C	17.37:g.26101354A>G	ENSP00000327251:p.Ser469Pro						p.S469P	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			12	1638	-			469					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1405T>C	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392035	0.83011	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.33216	1.42	5.67	4.57	0.56435	Nitric oxide synthase, oxygenase domain (2);	0.071079	0.64402	D	0.000020	T	0.68430	0.3000	H	0.97240	3.965	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78099	-0.2336	10	0.87932	D	0	.	12.1225	0.53900	0.8566:0.1434:0.0:0.0	.	469;469	F8WEM3;P35228	.;NOS2_HUMAN	P	469;430;469	ENSP00000327251:S469P	ENSP00000305638:S469P	S	-	1	0	NOS2	23125481	1.000000	0.71417	0.327000	0.25402	0.984000	0.73092	7.348000	0.79366	0.938000	0.37419	0.459000	0.35465	TCT		0.562	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		6	200	0	0	0	1	0	6	200				
RBM15	64783	broad.mit.edu	37	1	110884176	110884176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110884176C>T	ENST00000369784.3	+	1	3049	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	717	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTGACAAGCGAGACCGTAA	0.502			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(2149-2151)Cga>Tga		RNA binding motif protein 15							75.0	78.0	77.0					1																	110884176		2203	4300	6503	SO:0001587	stop_gained	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884176C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2149C>T	1.37:g.110884176C>T	ENSP00000358799:p.Arg717*					RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*	p.R717*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	3049	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	717			Arg-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Nonsense_Mutation	SNP	ENST00000369784.3	37	c.2149C>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	46	12.690748	0.99688	.	.	ENSG00000162775	ENST00000369784	.	.	.	4.87	2.85	0.33270	.	0.000000	0.37012	N	0.002291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.793	13.5867	0.61935	0.2815:0.7185:0.0:0.0	.	.	.	.	X	717	.	ENSP00000358799:R717X	R	+	1	2	RBM15	110685699	0.623000	0.27094	1.000000	0.80357	0.999000	0.98932	1.148000	0.31614	1.234000	0.43709	0.655000	0.94253	CGA		0.502	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		28	342	0	0	0	1	0	28	342				
CCDC88C	440193	broad.mit.edu	37	14	91755667	91755667	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91755667G>T	ENST00000389857.6	-	25	4309	c.4223C>A	c.(4222-4224)gCc>gAc	p.A1408D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1408					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TAAGGCTTTGGCTCCAATCCA	0.537																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(4222-4224)gCc>gAc		coiled-coil domain containing 88C							212.0	220.0	217.0					14																	91755667		1957	4145	6102	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91755667G>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4223C>A	14.37:g.91755667G>T	ENSP00000374507:p.Ala1408Asp						p.A1408D	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			25	4309	-		all_cancers(154;0.0468)	1408					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.4223C>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751333	0.89753	.	.	ENSG00000015133	ENST00000389857	T	0.62105	0.05	5.38	5.38	0.77491	.	0.310015	0.22674	U	0.057025	T	0.79281	0.4419	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80259	-0.1457	10	0.59425	D	0.04	-32.1102	19.1411	0.93446	0.0:0.0:1.0:0.0	.	1408	Q9P219	DAPLE_HUMAN	D	1408	ENSP00000374507:A1408D	ENSP00000374507:A1408D	A	-	2	0	CCDC88C	90825420	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.445000	0.90326	2.507000	0.84556	0.561000	0.74099	GCC		0.537	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		198	960	1	0	3.54725e-78	1	4.52998e-78	198	960				
MUC16	94025	broad.mit.edu	37	19	8999547	8999547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8999547G>A	ENST00000397910.4	-	56	40831	c.40628C>T	c.(40627-40629)gCa>gTa	p.A13543V	MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13545	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGGTGGCTGCCCCATCCTT	0.597																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40627-40629)gCa>gTa		mucin 16, cell surface associated							76.0	67.0	70.0					19																	8999547		1934	4124	6058	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999547G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40628C>T	19.37:g.8999547G>A	ENSP00000381008:p.Ala13543Val					MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	p.A13543V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			56	40831	-			13545	Missing (in Ref. 3; AAK74120).		SEA 10.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40628C>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.55|12.55	1.972987|1.972987	0.34848|0.34848	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.44881|.	0.91;0.91|.	3.48|3.48	-3.76|-3.76	0.04359|0.04359	SEA (2);|.	.|.	.|.	.|.	.|.	T|.	0.40670|.	0.1126|.	L|L	0.49126|0.49126	1.545|1.545	.|.	.|.	.|.	P;D|.	0.55385|.	0.901;0.971|.	P;D|.	0.68192|.	0.456;0.956|.	T|.	0.50127|.	-0.8864|.	8|.	0.46703|.	T|.	0.11|.	0.184|0.184	6.1059|6.1059	0.20073|0.20073	0.1102:0.0:0.2301:0.6598|0.1102:0.0:0.2301:0.6598	.|.	21188;13543|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	V|X	13543;184|383	ENSP00000381008:A13543V;ENSP00000370338:A184V|.	ENSP00000370338:A184V|.	A|Q	-|-	2|1	0|0	MUC16|MUC16	8860547|8860547	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	-0.010000|-0.010000	0.12743|0.12743	-0.401000|-0.401000	0.07644|0.07644	-0.320000|-0.320000	0.08662|0.08662	GCA|CAG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		103	309	0	0	0	1	0	103	309				
ZNF702P	79986	broad.mit.edu	37	19	53472933	53472933	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53472933T>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CCTTGCCACATTCATTACACT	0.333																																						ENST00000600068.1																			0																																																			0							g.chr19:53472933T>C																													19.37:g.53472933T>C						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.333	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			39	171	0	0	0	1	0	39	171				
BZRAP1	9256	broad.mit.edu	37	17	56389920	56389920	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389920G>A	ENST00000343736.4	-	17	2425	c.2262C>T	c.(2260-2262)agC>agT	p.S754S	BZRAP1_ENST00000268893.6_Silent_p.S694S|BZRAP1_ENST00000355701.3_Silent_p.S754S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	754						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGGCCCCCGCTACTGCTGC	0.642																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2260-2262)agC>agT		benzodiazapine receptor (peripheral) associated protein 1							69.0	58.0	62.0					17																	56389920		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389920G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2262C>T	17.37:g.56389920G>A						BZRAP1_ENST00000268893.6_Silent_p.S694S|BZRAP1_ENST00000343736.4_Silent_p.S754S	p.S754S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			17	3132	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		754					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.2262C>T	CCDS11605.1																																																																																				0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		86	394	0	0	0	1	0	86	394				
GPR125	166647	broad.mit.edu	37	4	22390718	22390718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390718C>T	ENST00000334304.5	-	18	2985	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	906					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.A906T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CACTAGGGTGCGTTTGGCCGA	0.408																																						ENST00000334304.5																			1	Substitution - Missense(1)	p.A906T(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2716-2718)Gca>Aca		G protein-coupled receptor 125							199.0	211.0	207.0					4																	22390718		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390718C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2716G>A	4.37:g.22390718C>T	ENSP00000334952:p.Ala906Thr					GPR125_ENST00000282943.5_5'UTR	p.A906T	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2985	-		Breast(46;0.198)	906					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2716G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850785	0.71719	.	.	ENSG00000152990	ENST00000334304	T	0.53857	0.6	5.85	5.85	0.93711	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.39245	1.2	0.80722	D	1	B;D	0.56746	0.213;0.977	B;P	0.46110	0.064;0.504	T	0.36504	-0.9745	10	0.26408	T	0.33	-13.3325	15.7232	0.77732	0.1373:0.8627:0.0:0.0	.	763;906	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	T	906	ENSP00000334952:A906T	ENSP00000334952:A906T	A	-	1	0	GPR125	21999816	0.997000	0.39634	0.889000	0.34880	0.972000	0.66771	3.633000	0.54295	2.755000	0.94549	0.655000	0.94253	GCA		0.408	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			106	1087	0	0	0	1	0	106	1087				
NET1	10276	broad.mit.edu	37	10	5498209	5498209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5498209C>T	ENST00000355029.4	+	11	1499	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	NET1_ENST00000542715.1_Nonsense_Mutation_p.R272*|NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*|NET1_ENST00000484741.1_3'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	453	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGCTCCTTTCGAGGAGCTTT	0.448																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1357-1359)Cga>Tga		neuroepithelial cell transforming 1							44.0	44.0	44.0					10																	5498209		2203	4300	6503	SO:0001587	stop_gained	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498209C>T	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1357C>T	10.37:g.5498209C>T	ENSP00000347134:p.Arg453*					NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*|NET1_ENST00000542715.1_Nonsense_Mutation_p.R272*|NET1_ENST00000484741.1_3'UTR	p.R453*	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			11	1499	+			453			PH.		Q12773|Q96D82|Q99903|Q9UEN6	Nonsense_Mutation	SNP	ENST00000355029.4	37	c.1357C>T	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	37	6.539833	0.97650	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	.	.	.	5.64	4.67	0.58626	.	0.000000	0.34628	N	0.003815	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.343	12.8877	0.58053	0.2509:0.7491:0.0:0.0	.	.	.	.	X	453;272;399	.	ENSP00000347134:R453X	R	+	1	2	NET1	5488209	1.000000	0.71417	0.998000	0.56505	0.207000	0.24258	2.854000	0.48325	2.652000	0.90054	0.563000	0.77884	CGA		0.448	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		33	168	0	0	0	1	0	33	168				
NPRL2	10641	broad.mit.edu	37	3	50385985	50385985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385985G>A	ENST00000232501.3	-	7	1131	c.693C>T	c.(691-693)ggC>ggT	p.G231G	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_5'UTR|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	231					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTCACAACGCCGTAGTACC	0.582																																						ENST00000232501.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(691-693)ggC>ggT		nitrogen permease regulator-like 2 (S. cerevisiae)							146.0	128.0	134.0					3																	50385985		2203	4300	6503	SO:0001819	synonymous_variant	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50385985G>A	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.693C>T	3.37:g.50385985G>A						NPRL2_ENST00000493465.1_5'UTR	p.G231G	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN			7	1131	-			231					A8K831|Q6FGS2|Q9Y249|Q9Y497	Silent	SNP	ENST00000232501.3	37	c.693C>T	CCDS2826.1																																																																																				0.582	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		68	256	0	0	0	1	0	68	256				
SPATS2	65244	broad.mit.edu	37	12	49893906	49893906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49893906G>A	ENST00000553127.1	+	10	1270	c.757G>A	c.(757-759)Gca>Aca	p.A253T	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	253						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTGTCTCTTGCACGGTATCG	0.353																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(757-759)Gca>Aca		spermatogenesis associated, serine-rich 2							69.0	69.0	69.0					12																	49893906		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49893906G>A	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.757G>A	12.37:g.49893906G>A	ENSP00000448228:p.Ala253Thr					SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T	p.A253T			Q86XZ4	SPAS2_HUMAN			10	1270	+			253					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.757G>A	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018060	0.35606	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	6.08	6.08	0.98989	.	0.091847	0.85682	D	0.000000	T	0.62514	0.2434	L	0.33792	1.035	0.80722	D	1	D	0.57899	0.981	D	0.65874	0.939	T	0.52253	-0.8600	9	0.05721	T	0.95	-16.3228	18.1659	0.89727	0.0:0.0:1.0:0.0	.	253	Q86XZ4	SPAS2_HUMAN	T	253	.	ENSP00000326841:A253T	A	+	1	0	SPATS2	48180173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.422000	0.59854	2.894000	0.99253	0.591000	0.81541	GCA		0.353	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		54	241	0	0	0	1	0	54	241				
PCDH19	57526	broad.mit.edu	37	X	99661672	99661672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661672C>T	ENST00000373034.4	-	1	3599	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M|PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (in EIEE9). {ECO:0000269|PubMed:22267240}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGAGCCACCACGATAAGCTCA	0.567																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1924-1926)Gtg>Atg		protocadherin 19							60.0	62.0	61.0					X																	99661672		2064	4196	6260	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661672C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1924G>A	X.37:g.99661672C>T	ENSP00000362125:p.Val642Met					PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M|PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M	p.V642M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	3599	-			642			Cadherin 6.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1924G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631431	0.67015	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.70164	-0.46;-0.46;-0.46	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	D	0.91786	0.5439	10	0.87932	D	0	.	19.0738	0.93151	0.0:1.0:0.0:0.0	.	642;642;642	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	642	ENSP00000400327:V642M;ENSP00000362125:V642M;ENSP00000255531:V642M	ENSP00000255531:V642M	V	-	1	0	PCDH19	99548328	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	2.454000	0.82982	0.513000	0.50165	GTG		0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		63	154	0	0	0	1	0	63	154				
RCOR1	23186	broad.mit.edu	37	14	103174849	103174849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174849G>A	ENST00000570597.1	+	6	699	c.699G>A	c.(697-699)tgG>tgA	p.W233*	RCOR1_ENST00000262241.6_Nonsense_Mutation_p.W236*			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	233	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTATTCTTGGAAGAAGACGA	0.383																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(706-708)tgG>tgA		REST corepressor 1							153.0	172.0	166.0					14																	103174849		2203	4300	6503	SO:0001587	stop_gained	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174849G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.699G>A	14.37:g.103174849G>A	ENSP00000459789:p.Trp233*					RCOR1_ENST00000570597.1_Nonsense_Mutation_p.W233*	p.W236*	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	934	+			233			Interaction with HDAC1.|SANT 1.		Q15044|Q6P2I9|Q86VG5	Nonsense_Mutation	SNP	ENST00000570597.1	37	c.708G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.449281	0.98292	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9651	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000262241:W233X	W	+	3	0	RCOR1	102244602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.778000	0.95560	0.655000	0.94253	TGG		0.383	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		249	1140	0	0	0	1	0	249	1140				
SENP7	57337	broad.mit.edu	37	3	101047326	101047326	+	Nonsense_Mutation	SNP	G	G	A	rs374261191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047326G>A	ENST00000394095.2	-	22	2913	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	954	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R888*(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTTACTCTCGTAAATTCTGA	0.318																																						ENST00000394095.2																			2	Substitution - Nonsense(2)	p.R888*(2)	large_intestine(1)|breast(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2860-2862)Cga>Tga		SUMO1/sentrin specific peptidase 7		G	stop/ARG,stop/ARG	0,4406		0,0,2203	84.0	96.0	92.0		2665,2860	4.5	1.0	3		92	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained,stop-gained	SENP7	NM_001077203.1,NM_020654.3	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	889/986,954/1051	101047326	1,13001	2203	4298	6501	SO:0001587	stop_gained	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101047326G>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2860C>T	3.37:g.101047326G>A	ENSP00000377655:p.Arg954*					SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*	p.R954*	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			22	2913	-			954			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	ENST00000394095.2	37	c.2860C>T	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	39	7.580735	0.98371	0.0	1.16E-4	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	.	.	.	5.42	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8682	0.57951	0.0:0.0:0.752:0.248	.	.	.	.	X	954;889;888;790;790;142;921	.	ENSP00000313624:R888X	R	-	1	2	SENP7	102530016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.086000	0.30853	2.543000	0.85770	0.591000	0.81541	CGA		0.318	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		79	354	0	0	0	1	0	79	354				
HAS3	3038	broad.mit.edu	37	16	69148647	69148647	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69148647C>A	ENST00000306560.1	+	4	1296	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	HAS3_ENST00000569188.1_Silent_p.T380T|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	380					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCTGGATGACCTACGAGTCAG	0.547																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1138-1140)acC>acA		hyaluronan synthase 3							149.0	129.0	136.0					16																	69148647		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148647C>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1140C>A	16.37:g.69148647C>A						HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.T380T	p.T380T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1296	+		Ovarian(137;0.101)	380					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.1140C>A	CCDS10871.1																																																																																				0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		143	535	1	0	1.15162e-75	1	1.46888e-75	143	535				
PCDHA10	56139	broad.mit.edu	37	5	140235697	140235697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140235697G>T	ENST00000307360.5	+	1	64	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	22					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCGCAGCCTGGGAGGT	0.597																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(64-66)Gcc>Tcc									60.0	69.0	66.0					5																	140235697		2196	4273	6469	SO:0001583	missense	0							g.chr5:140235697G>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.64G>T	5.37:g.140235697G>T	ENSP00000304234:p.Ala22Ser					PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A22S	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	64	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.64G>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	1.757	-0.487865	0.04352	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54675	0.56;0.66	4.31	-2.66	0.06077	.	.	.	.	.	T	0.37544	0.1007	L	0.49513	1.565	0.09310	N	1	B;B;P	0.36789	0.272;0.023;0.57	B;B;B	0.33750	0.169;0.023;0.142	T	0.21075	-1.0256	9	0.21540	T	0.41	.	6.4531	0.21914	0.1416:0.0:0.3836:0.4747	.	22;22;22	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	22	ENSP00000421030:A22S;ENSP00000304234:A22S	ENSP00000304234:A22S	A	+	1	0	PCDHA10	140215881	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.159000	0.10056	-0.740000	0.04803	-0.410000	0.06199	GCC		0.597	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		113	471	1	0	4.98428e-49	1	6.16141e-49	113	471				
OSGIN1	29948	broad.mit.edu	37	16	83999313	83999313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83999313G>A	ENST00000343939.2	+	7	1767	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	462					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CGTGTTCCAGGACCTCGAGGG	0.647																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1384-1386)Gac>Aac		oxidative stress induced growth inhibitor 1							118.0	106.0	110.0					16																	83999313		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999313G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1384G>A	16.37:g.83999313G>A	ENSP00000343376:p.Asp462Asn					OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N	p.D462N			Q9UJX0	OSGI1_HUMAN			7	1767	+			462					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.1384G>A		.	.	.	.	.	.	.	.	.	.	G	8.718	0.913690	0.17907	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.33216	1.42;1.42;1.42	4.66	4.66	0.58398	.	0.252505	0.41500	D	0.000867	T	0.49440	0.1557	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.36553	-0.9743	10	0.22706	T	0.39	-48.3103	16.5398	0.84382	0.0:0.0:1.0:0.0	.	462	Q9UJX0	OSGI1_HUMAN	N	462;379;379	ENSP00000343376:D462N;ENSP00000355374:D379N;ENSP00000376983:D379N	ENSP00000343376:D462N	D	+	1	0	OSGIN1	82556814	0.995000	0.38212	0.596000	0.28811	0.226000	0.24999	4.166000	0.58203	2.140000	0.66376	0.313000	0.20887	GAC		0.647	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		89	350	0	0	0	1	0	89	350				
SLC10A3	8273	broad.mit.edu	37	X	153716810	153716810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716810G>T	ENST00000393587.4	-	3	733	c.470C>A	c.(469-471)cCc>cAc	p.P157H	UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P212H|SLC10A3_ENST00000263512.4_Missense_Mutation_p.P157H	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	157					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATCAGTGTGGGCGGGGCCTC	0.647																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(469-471)cCc>cAc		solute carrier family 10, member 3							66.0	66.0	66.0					X																	153716810		2203	4300	6503	SO:0001583	missense	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716810G>T	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.470C>A	X.37:g.153716810G>T	ENSP00000377212:p.Pro157His					SLC10A3_ENST00000393587.4_Missense_Mutation_p.P157H|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P212H	p.P157H	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	968	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		157					Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	c.470C>A	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272864	0.23221	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.10005	3.08;2.92;2.97;2.97	4.83	4.83	0.62350	.	0.075236	0.53938	U	0.000052	T	0.32526	0.0832	M	0.73598	2.24	0.46901	D	0.999249	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03840	-1.0999	10	0.59425	D	0.04	-11.0926	13.8157	0.63290	0.0:0.0:1.0:0.0	.	128;157	Q9BSL2;P09131	.;P3_HUMAN	H	128;212;157;157;157	ENSP00000358663:P128H;ENSP00000377211:P212H;ENSP00000263512:P157H;ENSP00000377212:P157H	ENSP00000263512:P157H	P	-	2	0	SLC10A3	153370004	1.000000	0.71417	0.151000	0.22473	0.029000	0.11900	3.852000	0.55934	2.229000	0.72834	0.600000	0.82982	CCC		0.647	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		157	487	1	0	8.02008e-65	1	1.01376e-64	157	487				
TAOK2	9344	broad.mit.edu	37	16	29999166	29999166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29999166C>T	ENST00000308893.4	+	16	4616	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000416441.2_Silent_p.P1018P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1191					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGAACGGCCCACCCGAATCC	0.706																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3571-3573)ccC>ccT		TAO kinase 2							18.0	17.0	17.0					16																	29999166		2195	4294	6489	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29999166C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3573C>T	16.37:g.29999166C>T						TAOK2_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000416441.2_Silent_p.P1018P|TAOK2_ENST00000279394.3_Intron	p.P1191P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4616	+			1191					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.3573C>T	CCDS10663.1																																																																																				0.706	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		30	137	0	0	0	1	0	30	137				
PDCD11	22984	broad.mit.edu	37	10	105177682	105177682	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105177682T>A	ENST00000369797.3	+	14	1998	c.1904T>A	c.(1903-1905)aTt>aAt	p.I635N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	635					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCCATTAACATTGGGCAGGTA	0.478																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1903-1905)aTt>aAt		programmed cell death 11							146.0	134.0	138.0					10																	105177682		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105177682T>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1904T>A	10.37:g.105177682T>A	ENSP00000358812:p.Ile635Asn						p.I635N	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	14	1998	+		Colorectal(252;0.0747)|Breast(234;0.128)	635					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.1904T>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	t	11.36	1.615988	0.28801	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10477	2.87	5.28	-1.54	0.08584	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);	1.092910	0.06925	N	0.810013	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41858	-0.9485	10	0.56958	D	0.05	-0.0027	6.3525	0.21383	0.1121:0.3566:0.0:0.5312	.	635	Q14690	RRP5_HUMAN	N	635	ENSP00000358812:I635N	ENSP00000358812:I635N	I	+	2	0	PDCD11	105167672	0.054000	0.20591	0.029000	0.17559	0.132000	0.20833	0.565000	0.23578	-0.229000	0.09854	-0.520000	0.04383	ATT		0.478	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	402	0	0	0	1	0	10	402				
RASAL2	9462	broad.mit.edu	37	1	178427268	178427268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178427268C>T	ENST00000462775.1	+	12	2543	c.2418C>T	c.(2416-2418)aaC>aaT	p.N806N	RASAL2_ENST00000367649.3_Silent_p.N947N|RASAL2_ENST00000448150.3_Silent_p.N936N	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	806					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTTTGGAGAACCTAAGCACTG	0.483																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2806-2808)aaC>aaT		RAS protein activator like 2							83.0	84.0	84.0					1																	178427268		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427268C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2418C>T	1.37:g.178427268C>T						RASAL2_ENST00000462775.1_Silent_p.N806N|RASAL2_ENST00000367649.3_Silent_p.N947N	p.N936N	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			14	3626	+			806					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2808C>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134370	0.09032	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.31	4.4	0.53042	.	.	.	.	.	T	0.59088	0.2168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56456	-0.7976	4	.	.	.	.	8.6916	0.34271	0.0:0.7721:0.0:0.2279	.	.	.	.	S	357	.	.	P	+	1	0	RASAL2	176693891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.275000	0.43399	1.235000	0.43724	0.655000	0.94253	CCT		0.483	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		109	351	0	0	0	1	0	109	351				
SEMA3D	223117	broad.mit.edu	37	7	84651710	84651710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651710T>C	ENST00000284136.6	-	11	1454	c.1411A>G	c.(1411-1413)Aca>Gca	p.T471A	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	471	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCTTACCTGTTCCAAGAAAC	0.328																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1411-1413)Aca>Gca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							179.0	165.0	170.0					7																	84651710		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651710T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1411A>G	7.37:g.84651710T>C	ENSP00000284136:p.Thr471Ala					SEMA3D_ENST00000484038.1_5'UTR	p.T471A	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			11	1454	-			471			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1411A>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094341	0.76870	.	.	ENSG00000153993	ENST00000284136	T	0.33216	1.42	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74022	-0.3798	10	0.87932	D	0	.	15.9171	0.79527	0.0:0.0:0.0:1.0	.	471	O95025	SEM3D_HUMAN	A	471	ENSP00000284136:T471A	ENSP00000284136:T471A	T	-	1	0	SEMA3D	84489646	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	8.040000	0.89188	2.152000	0.67230	0.455000	0.32223	ACA		0.328	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		163	640	0	0	0	1	0	163	640				
TRPM6	140803	broad.mit.edu	37	9	77416926	77416926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77416926C>T	ENST00000360774.1	-	16	2134	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000451710.3_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	633					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACCGTGGCCTCCTCTCCATGC	0.502																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1897-1899)Gag>Aag		transient receptor potential cation channel, subfamily M, member 6							144.0	117.0	126.0					9																	77416926		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77416926C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1897G>A	9.37:g.77416926C>T	ENSP00000354006:p.Glu633Lys					TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E633K	p.E633K			Q9BX84	TRPM6_HUMAN			16	2134	-			633					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1897G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456860	0.96223	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.28	5.28	0.74379	.	0.046451	0.85682	D	0.000000	D	0.89339	0.6687	M	0.90977	3.165	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75020	0.985;0.983;0.982	D	0.91646	0.5331	10	0.87932	D	0	.	18.9117	0.92489	0.0:1.0:0.0:0.0	.	296;633;628	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	K	633;633;628;628;633;296;296	ENSP00000354006:E633K;ENSP00000407341:E633K;ENSP00000396672:E628K;ENSP00000354962:E628K;ENSP00000366060:E633K	ENSP00000309693:E296K	E	-	1	0	TRPM6	76606746	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.963000	0.70372	2.462000	0.83206	0.585000	0.79938	GAG		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		49	247	0	0	0	1	0	49	247				
SIRPB1	10326	broad.mit.edu	37	20	1552374	1552374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552374G>A	ENST00000381605.4	-	3	807	c.743C>T	c.(742-744)gCc>gTc	p.A248V	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTCGGATGGCCTCAGACAA	0.612																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)gCc>gTc		signal-regulatory protein beta 1							83.0	75.0	78.0					20																	1552374		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552374G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.743C>T	20.37:g.1552374G>A	ENSP00000371018:p.Ala248Val					SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	p.A248V	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			3	807	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.743C>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.379	-0.929480	0.02359	.	.	ENSG00000101307	ENST00000381605	T	0.02177	4.41	2.47	0.415	0.16411	.	0.573863	0.16798	N	0.199113	T	0.01061	0.0035	N	0.12831	0.26	0.22787	N	0.998734	B	0.09022	0.002	B	0.10450	0.005	T	0.48670	-0.9015	10	0.02654	T	1	.	4.2716	0.10789	0.358:0.0:0.642:0.0	.	248	O00241	SIRB1_HUMAN	V	248	ENSP00000371018:A248V	ENSP00000371018:A248V	A	-	2	0	SIRPB1	1500374	0.014000	0.17966	0.964000	0.40570	0.911000	0.54048	-0.227000	0.09126	0.374000	0.24650	0.456000	0.33151	GCC		0.612	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		52	270	0	0	0	1	0	52	270				
CD80	941	broad.mit.edu	37	3	119263445	119263445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119263445C>A	ENST00000264246.3	-	3	732	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	CD80_ENST00000383668.3_Missense_Mutation_p.D124Y|CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	124	Ig-like V-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TTGAAAGCGTCTTTTTCATAC	0.463																																					Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(370-372)Gac>Tac		CD80 molecule	Abatacept(DB01281)						111.0	112.0	112.0					3																	119263445		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119263445C>A		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.370G>T	3.37:g.119263445C>A	ENSP00000264246:p.Asp124Tyr					CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383668.3_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y	p.D124Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN			3	732	-			124			Ig-like V-type.		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.370G>T	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564544	0.45694	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.13	2.34	0.29019	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616448	0.14576	N	0.311191	T	0.48519	0.1504	N	0.02751	-0.505	0.09310	N	1	D;D;D;D	0.64830	0.994;0.984;0.992;0.992	P;P;P;P	0.53146	0.719;0.565;0.707;0.707	T	0.37407	-0.9707	10	0.72032	D	0.01	-3.8667	4.979	0.14155	0.0:0.6393:0.1739:0.1869	.	124;124;124;124	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	Y	124	ENSP00000264246:D124Y;ENSP00000418364:D124Y;ENSP00000373165:D124Y;ENSP00000373164:D124Y	ENSP00000264246:D124Y	D	-	1	0	CD80	120746135	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.302000	0.19192	0.318000	0.23185	0.650000	0.86243	GAC		0.463	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		86	390	1	0	4.08182e-41	1	4.95533e-41	86	390				
PEX7	5191	broad.mit.edu	37	6	137234651	137234651	+	Missense_Mutation	SNP	C	C	A	rs185417185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137234651C>A	ENST00000318471.4	+	10	1040	c.959C>A	c.(958-960)aCt>aAt	p.T320N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	320					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTTGTCTTACTATTCCTGCT	0.358																																						ENST00000318471.4																			0				lung(7)|prostate(1)	8						c.(958-960)aCt>aAt		peroxisomal biogenesis factor 7							244.0	230.0	234.0					6																	137234651		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137234651C>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.959C>A	6.37:g.137234651C>A	ENSP00000315680:p.Thr320Asn					PEX7_ENST00000541292.1_3'UTR	p.T320N	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	10	1040	+	Colorectal(23;0.24)		320					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.959C>A	CCDS5180.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.607	0.112873	0.08831	.	.	ENSG00000112357	ENST00000318471	T	0.64085	-0.08	5.34	2.13	0.27403	WD40-repeat-containing domain (1);	0.610740	0.18092	N	0.151942	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.19582	-1.0301	10	0.25751	T	0.34	-22.7369	8.2003	0.31421	0.0:0.607:0.3023:0.0907	.	320	O00628	PEX7_HUMAN	N	320	ENSP00000315680:T320N	ENSP00000315680:T320N	T	+	2	0	PEX7	137276344	0.000000	0.05858	0.003000	0.11579	0.225000	0.24961	0.710000	0.25748	1.223000	0.43536	-0.499000	0.04595	ACT		0.358	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		130	563	1	0	2.70824e-66	1	3.42657e-66	130	563				
ADCY9	115	broad.mit.edu	37	16	4163832	4163832	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4163832A>G	ENST00000294016.3	-	2	2150	c.1612T>C	c.(1612-1614)Tac>Cac	p.Y538H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	538					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCATCTAAGTATTTTGCGGTG	0.498																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1612-1614)Tac>Cac		adenylate cyclase 9							117.0	113.0	114.0					16																	4163832		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4163832A>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1612T>C	16.37:g.4163832A>G	ENSP00000294016:p.Tyr538His						p.Y538H	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	2150	-			538					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1612T>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653982	0.47362	.	.	ENSG00000162104	ENST00000294016	T	0.81078	-1.45	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.063531	0.64402	D	0.000003	T	0.80265	0.4591	N	0.16478	0.41	0.50813	D	0.999899	D	0.69078	0.997	D	0.63488	0.915	T	0.79562	-0.1752	10	0.29301	T	0.29	.	15.4464	0.75235	1.0:0.0:0.0:0.0	.	538	O60503	ADCY9_HUMAN	H	538	ENSP00000294016:Y538H	ENSP00000294016:Y538H	Y	-	1	0	ADCY9	4103833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.064000	0.61679	0.454000	0.30748	TAC		0.498	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			138	519	0	0	0	1	0	138	519				
PTAR1	375743	broad.mit.edu	37	9	72347116	72347116	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72347116T>A	ENST00000340434.4	-	5	584	c.581A>T	c.(580-582)aAc>aTc	p.N194I	PTAR1_ENST00000377200.5_Missense_Mutation_p.N115I	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	194					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AGCATTATAGTTGCTTGGGTA	0.493																																						ENST00000377200.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(343-345)aAc>aTc		protein prenyltransferase alpha subunit repeat containing 1							119.0	111.0	114.0					9																	72347116		1969	4150	6119	SO:0001583	missense	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72347116T>A	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.581A>T	9.37:g.72347116T>A	ENSP00000344299:p.Asn194Ile					PTAR1_ENST00000340434.4_Missense_Mutation_p.N194I	p.N115I			Q7Z6K3	PTAR1_HUMAN			3	346	-			194					Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	c.344A>T	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997356	0.93227	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.64991	-0.13;-0.13	6.03	6.03	0.97812	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86704	0.1931	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	194	Q7Z6K3	PTAR1_HUMAN	I	115;194	ENSP00000366405:N115I;ENSP00000344299:N194I	ENSP00000344299:N194I	N	-	2	0	PTAR1	71536936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.012000	0.88631	2.308000	0.77769	0.533000	0.62120	AAC		0.493	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		45	153	0	0	0	1	0	45	153				
ERBB2	2064	broad.mit.edu	37	17	37882024	37882024	+	Missense_Mutation	SNP	G	G	T	rs138957632	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37882024G>T	ENST00000269571.5	+	23	2949	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D	ERBB2_ENST00000406381.2_Missense_Mutation_p.E900D|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	930	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAGCCCGGGAGATCCCTGACC	0.592		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2698-2700)gaG>gaT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	G	ASP/GLU,ASP/GLU	0,4406		0,0,2203	82.0	73.0	76.0		2700,2790	2.4	1.0	17	dbSNP_134	76	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	45,45	0,5,6498	TT,TG,GG		0.0581,0.0,0.0384	benign,benign	900/1226,930/1256	37882024	5,13001	2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37882024G>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2790G>T	17.37:g.37882024G>T	ENSP00000269571:p.Glu930Asp	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|ERBB2_ENST00000269571.5_Missense_Mutation_p.E930D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D	p.E900D	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	25	3210	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	930			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2700G>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823520	0.32237	0.0	5.81E-4	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.53	2.44	0.29823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71143	0.3305	N	0.24115	0.695	0.80722	D	1	B;B;B	0.20052	0.041;0.013;0.041	B;B;B	0.24394	0.053;0.005;0.053	T	0.61686	-0.7012	9	0.45353	T	0.12	.	9.0774	0.36531	0.2885:0.0:0.7115:0.0	.	654;915;930	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	D	900;915;654;930;900	ENSP00000385185:E900D;ENSP00000446466:E915D;ENSP00000404047:E654D;ENSP00000269571:E930D;ENSP00000443562:E900D	ENSP00000269571:E930D	E	+	3	2	ERBB2	35135550	0.986000	0.35501	1.000000	0.80357	0.991000	0.79684	0.225000	0.17757	0.291000	0.22468	-0.251000	0.11542	GAG		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			62	240	1	0	1.53716e-24	1	1.75837e-24	62	240				
ZNF568	374900	broad.mit.edu	37	19	37413686	37413686	+	Missense_Mutation	SNP	C	C	A	rs573204075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37413686C>A	ENST00000333987.7	+	3	520	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATCTCAATCTTCAGTGATC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18776	0.0		0.0	False		,,,				2504	0.001					ENST00000333987.7																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(13-15)tCt>tAt		zinc finger protein 568							107.0	106.0	106.0					19																	37413686		1984	4162	6146	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37413686C>A	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.14C>A	19.37:g.37413686C>A	ENSP00000334685:p.Ser5Tyr					ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_Intron	p.S5Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	520	+	Esophageal squamous(110;0.183)		5					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.14C>A	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201655	0.22121	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.07327	5.72;3.46;3.2	2.92	1.88	0.25563	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	0.999999	B	0.22604	0.072	B	0.21708	0.036	T	0.47315	-0.9127	9	0.13108	T	0.6	.	5.9183	0.19067	0.0:0.8516:0.0:0.1484	.	5	Q3ZCX4	ZN568_HUMAN	Y	5	ENSP00000407012:S5Y;ENSP00000334685:S5Y;ENSP00000389794:S5Y	ENSP00000334685:S5Y	S	+	2	0	ZNF568	42105526	0.086000	0.21541	0.034000	0.17996	0.270000	0.26580	1.137000	0.31479	0.798000	0.33994	-0.391000	0.06502	TCT		0.512	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		42	197	1	0	2.45108e-15	1	2.67628e-15	42	197				
ANK2	287	broad.mit.edu	37	4	114279143	114279143	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114279143C>T	ENST00000357077.4	+	38	9422	c.9369C>T	c.(9367-9369)tcC>tcT	p.S3123S	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.S3090S|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3123					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAAGGTCCTATGCAGATG	0.448																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9367-9369)tcC>tcT		ankyrin 2, neuronal							51.0	55.0	54.0					4																	114279143		2197	4300	6497	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279143C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9369C>T	4.37:g.114279143C>T						ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.S3090S	p.S3123S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9422	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3090					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.9369C>T	CCDS3702.1																																																																																				0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		47	217	0	0	0	1	0	47	217				
ATP1A4	480	broad.mit.edu	37	1	160128806	160128806	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160128806T>C	ENST00000368081.4	+	5	1011	c.540T>C	c.(538-540)atT>atC	p.I180I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	180					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTGGTAATTCGAGGAGGAG	0.473																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(538-540)atT>atC		ATPase, Na+/K+ transporting, alpha 4 polypeptide							93.0	83.0	86.0					1																	160128806		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160128806T>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.540T>C	1.37:g.160128806T>C							p.I180I	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	1011	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		180					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.540T>C	CCDS1197.1																																																																																				0.473	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		40	208	0	0	0	1	0	40	208				
UGT3A1	133688	broad.mit.edu	37	5	35965841	35965841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965841C>T	ENST00000274278.3	-	4	847	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A130T|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	164						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAATGGCCACAAATGGT	0.418																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(490-492)Gcc>Acc		UDP glycosyltransferase 3 family, polypeptide A1							73.0	70.0	71.0					5																	35965841		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965841C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.490G>A	5.37:g.35965841C>T	ENSP00000274278:p.Ala164Thr					UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A130T	p.A164T	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	847	-	all_lung(31;0.000197)		164					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.490G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547282	0.45383	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	2.93	-1.91	0.07641	.	0.258333	0.29119	N	0.013088	T	0.52901	0.1763	L	0.36672	1.1	0.09310	N	1	P;P;B;B	0.49358	0.923;0.571;0.317;0.237	P;B;B;B	0.51550	0.673;0.292;0.267;0.292	T	0.56475	-0.7973	10	0.72032	D	0.01	.	12.1012	0.53785	0.2525:0.7475:0.0:0.0	.	130;164;110;164	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	T	164;164;130;110	ENSP00000274278:A164T;ENSP00000427079:A164T;ENSP00000426100:A130T;ENSP00000328033:A110T	ENSP00000274278:A164T	A	-	1	0	UGT3A1	36001598	0.000000	0.05858	0.005000	0.12908	0.436000	0.31835	-0.692000	0.05127	-0.086000	0.12550	0.313000	0.20887	GCC		0.418	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		29	274	0	0	0	1	0	29	274				
SH3RF3	344558	broad.mit.edu	37	2	109964294	109964294	+	Silent	SNP	C	C	T	rs370737025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109964294C>T	ENST00000309415.6	+	2	738	c.738C>T	c.(736-738)agC>agT	p.S246S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	246	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCCAGCCAGCTATATCCAGT	0.562																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(736-738)agC>agT		SH3 domain containing ring finger 3							50.0	57.0	55.0					2																	109964294		2134	4237	6371	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:109964294C>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.738C>T	2.37:g.109964294C>T							p.S246S	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			2	738	+			246			SH3 1.		A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.738C>T																																																																																					0.562	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		47	108	0	0	0	1	0	47	108				
GIMAP5	55340	broad.mit.edu	37	7	150440033	150440033	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150440033A>G	ENST00000358647.3	+	3	1173	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	269					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACTGGGCATACAAGGCGCTC	0.453																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(805-807)tAc>tGc		GTPase, IMAP family member 5							104.0	77.0	86.0					7																	150440033		2203	4300	6503	SO:0001583	missense	55340							g.chr7:150440033A>G	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.806A>G	7.37:g.150440033A>G	ENSP00000351473:p.Tyr269Cys					GIMAP5_ENST00000479556.1_3'UTR	p.Y269C	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1173	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.806A>G	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	A	3.517	-0.098624	0.07010	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05786	3.39	4.12	-8.24	0.01029	.	3.840650	0.00550	N	0.000240	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.38643	T	0.18	.	6.2565	0.20877	0.2077:0.0806:0.5671:0.1446	.	269	Q96F15	GIMA5_HUMAN	C	269;305	ENSP00000351473:Y269C	ENSP00000351473:Y269C	Y	+	2	0	GIMAP5	150070966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.358000	0.00069	-2.620000	0.00440	-2.048000	0.00412	TAC		0.453	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		54	276	0	0	0	1	0	54	276				
FAM71B	153745	broad.mit.edu	37	5	156590053	156590053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156590053A>G	ENST00000302938.4	-	2	1318	c.1223T>C	c.(1222-1224)aTg>aCg	p.M408T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	408						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGTTCACTCATGTAGCCTTC	0.502																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1222-1224)aTg>aCg		family with sequence similarity 71, member B							87.0	90.0	89.0					5																	156590053		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590053A>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1223T>C	5.37:g.156590053A>G	ENSP00000305596:p.Met408Thr						p.M408T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1318	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	408					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1223T>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605410	0.03717	.	.	ENSG00000170613	ENST00000302938	T	0.18338	2.22	4.26	4.26	0.50523	.	0.133648	0.34828	N	0.003660	T	0.16514	0.0397	M	0.72118	2.19	0.34314	D	0.685761	B	0.26744	0.158	B	0.17433	0.018	T	0.12915	-1.0529	10	0.09590	T	0.72	-25.7394	10.3394	0.43868	1.0:0.0:0.0:0.0	.	408	Q8TC56	FA71B_HUMAN	T	408	ENSP00000305596:M408T	ENSP00000305596:M408T	M	-	2	0	FAM71B	156522631	1.000000	0.71417	0.578000	0.28575	0.030000	0.12068	3.902000	0.56310	1.853000	0.53794	0.459000	0.35465	ATG		0.502	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		86	373	0	0	0	1	0	86	373				
FBN1	2200	broad.mit.edu	37	15	48718062	48718062	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48718062C>A	ENST00000316623.5	-	59	7660		c.e59-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCGATATCTGTAATTTAA	0.313																																						ENST00000316623.5																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.e59-1		fibrillin 1							76.0	66.0	69.0					15																	48718062		2198	4295	6493	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48718062C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7205-1G>T	15.37:g.48718062C>A								NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	59	7660	-		all_lung(180;0.00279)						B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37		CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525982	0.64860	.	.	ENSG00000166147	ENST00000316623	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46505354	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	7.601000	0.82783	2.941000	0.99782	0.655000	0.94253	.		0.313	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Intron	29	152	1	0	3.73148e-12	1	3.99992e-12	29	152				
ATP2B4	493	broad.mit.edu	37	1	203678519	203678519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203678519T>C	ENST00000357681.5	+	11	2771	c.1648T>C	c.(1648-1650)Tat>Cat	p.Y550H	ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	550					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCAGGATTATCAGGCTGT	0.542																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1648-1650)Tat>Cat		ATPase, Ca++ transporting, plasma membrane 4							100.0	87.0	92.0					1																	203678519		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203678519T>C	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1648T>C	1.37:g.203678519T>C	ENSP00000350310:p.Tyr550His					ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H	p.Y550H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2771	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		550					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1648T>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330841	0.60853	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.52	5.52	0.82312	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.48286	D	0.000184	D	0.97692	0.9243	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;P;D	0.91635	0.999;0.848;0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-12.6719	15.3051	0.73987	0.0:0.0:0.0:1.0	.	550;550;550	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	550;550;538;550;550	ENSP00000350310:Y550H;ENSP00000356187:Y550H;ENSP00000356188:Y538H;ENSP00000375816:Y550H;ENSP00000340930:Y550H	ENSP00000340930:Y550H	Y	+	1	0	ATP2B4	201945142	1.000000	0.71417	0.940000	0.37924	0.104000	0.19210	8.008000	0.88588	2.094000	0.63399	0.460000	0.39030	TAT		0.542	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		11	440	0	0	0	1	0	11	440				
ABCC12	94160	broad.mit.edu	37	16	48149406	48149406	+	Missense_Mutation	SNP	C	C	T	rs147110729		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48149406C>T	ENST00000311303.3	-	13	2254	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	ABCC12_ENST00000448542.1_Missense_Mutation_p.V637M|ABCC12_ENST00000416054.1_Silent_p.T612T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	637	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGCTTCCCCACGTGGGCGTCC	0.622																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1909-1911)Gtg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							135.0	123.0	127.0					16																	48149406		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149406C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1909G>A	16.37:g.48149406C>T	ENSP00000311030:p.Val637Met					ABCC12_ENST00000448542.1_Missense_Mutation_p.V637M|ABCC12_ENST00000416054.1_Silent_p.T612T	p.V637M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			13	2254	-		all_cancers(37;0.0474)|all_lung(18;0.047)	637			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1909G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937206	0.52972	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.81078	-1.45;-1.45	5.24	4.28	0.50868	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88899	0.3351	10	0.87932	D	0	.	14.5334	0.67942	0.1479:0.852:0.0:0.0	.	637	Q96J65	MRP9_HUMAN	M	637;637;579	ENSP00000311030:V637M;ENSP00000401855:V637M	ENSP00000311030:V637M	V	-	1	0	ABCC12	46706907	1.000000	0.71417	0.973000	0.42090	0.012000	0.07955	4.659000	0.61504	1.323000	0.45263	-0.470000	0.05040	GTG		0.622	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		12	649	0	0	0	1	0	12	649				
HSD17B4	3295	broad.mit.edu	37	5	118867031	118867031	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118867031T>C	ENST00000256216.6	+	22	2058	c.1925T>C	c.(1924-1926)gTg>gCg	p.V642A	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.V667A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V624A	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	642	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGGCCTGAGGTGGTGAAGAAA	0.393																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1999-2001)gTg>gCg		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						100.0	99.0	99.0					5																	118867031		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118867031T>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1925T>C	5.37:g.118867031T>C	ENSP00000256216:p.Val642Ala					HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V642A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V624A	p.V667A	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	23	2184	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	642			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.2000T>C	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584128	0.46110	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.49	4.3	0.51218	SCP2 sterol-binding domain (2);	0.123302	0.56097	D	0.000036	T	0.11495	0.0280	N	0.13352	0.335	0.39528	D	0.96862	P;B;B;B;B	0.42692	0.787;0.006;0.01;0.083;0.002	B;B;B;B;B	0.36567	0.228;0.02;0.02;0.06;0.026	T	0.12682	-1.0538	10	0.36615	T	0.2	-2.1711	10.8144	0.46567	0.142:0.0:0.0:0.858	.	667;624;618;380;642	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	A	642;624;618;667;502;505;380	ENSP00000256216:V642A;ENSP00000424613:V624A;ENSP00000424940:V618A;ENSP00000420914:V667A;ENSP00000411960:V502A;ENSP00000425993:V505A;ENSP00000426272:V380A	ENSP00000256216:V642A	V	+	2	0	HSD17B4	118894930	1.000000	0.71417	0.632000	0.29296	0.966000	0.64601	5.241000	0.65384	0.877000	0.35895	0.528000	0.53228	GTG		0.393	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		42	385	0	0	0	1	0	42	385				
PHKB	5257	broad.mit.edu	37	16	47622859	47622859	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47622859T>C	ENST00000323584.5	+	10	938	c.914T>C	c.(913-915)tTt>tCt	p.F305S	PHKB_ENST00000299167.8_Missense_Mutation_p.F305S|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Missense_Mutation_p.F298S|PHKB_ENST00000566044.1_Missense_Mutation_p.F298S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	305					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TATCCTGCATTTGCCCTGGAT	0.423																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(892-894)tTt>tCt		phosphorylase kinase, beta							98.0	92.0	94.0					16																	47622859		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47622859T>C		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.914T>C	16.37:g.47622859T>C	ENSP00000313504:p.Phe305Ser					PHKB_ENST00000299167.8_Missense_Mutation_p.F305S|PHKB_ENST00000566044.1_Missense_Mutation_p.F298S|PHKB_ENST00000323584.5_Missense_Mutation_p.F305S|PHKB_ENST00000567402.1_3'UTR	p.F298S			Q93100	KPBB_HUMAN			11	1078	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	305					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.893T>C	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	30	5.057005	0.93846	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.94232	-3.38;-3.38	6.07	6.07	0.98685	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.92459	3.31	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.71414	0.973;0.761	D	0.98270	1.0503	10	0.87932	D	0	-9.115	16.635	0.85050	0.0:0.0:0.0:1.0	.	305;298	Q93100;Q93100-4	KPBB_HUMAN;.	S	298;298;305	ENSP00000414345:F298S;ENSP00000313504:F305S	ENSP00000299167:F298S	F	+	2	0	PHKB	46180360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.922000	0.87538	2.330000	0.79161	0.477000	0.44152	TTT		0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			23	368	0	0	0	1	0	23	368				
CACNA1E	777	broad.mit.edu	37	1	181687258	181687258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181687258G>A	ENST00000367573.2	+	12	1593	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	CACNA1E_ENST00000367570.1_Silent_p.G531G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000526775.1_Silent_p.G531G|CACNA1E_ENST00000358338.5_Silent_p.G482G|CACNA1E_ENST00000357570.5_Silent_p.G482G|CACNA1E_ENST00000367567.4_Silent_p.G138G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	531					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGGCATGGGGCCTCGCCTTT	0.463																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1591-1593)ggG>ggA		calcium channel, voltage-dependent, R type, alpha 1E subunit							113.0	107.0	109.0					1																	181687258		1898	4121	6019	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181687258G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1593G>A	1.37:g.181687258G>A						CACNA1E_ENST00000367567.4_Silent_p.G138G|CACNA1E_ENST00000358338.5_Silent_p.G482G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000367570.1_Silent_p.G531G|CACNA1E_ENST00000367573.2_Silent_p.G531G|CACNA1E_ENST00000357570.5_Silent_p.G482G	p.G531G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			12	1758	+			531					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.1593G>A	CCDS55664.1																																																																																				0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		33	135	0	0	0	1	0	33	135				
SMARCC2	6601	broad.mit.edu	37	12	56565170	56565170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56565170C>A	ENST00000267064.4	-	21	2225	c.2139G>T	c.(2137-2139)gaG>gaT	p.E713D	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E744D|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	713					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAACATGGGCCTCCACCAAGG	0.552																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(2230-2232)gaG>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							136.0	125.0	129.0					12																	56565170		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56565170C>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2139G>T	12.37:g.56565170C>A	ENSP00000267064:p.Glu713Asp					SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E713D	p.E744D	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		22	2337	-			713					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2232G>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855436	0.51376	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.48522	1.01;0.81;0.84;0.83	5.3	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.31294	0.92	0.45129	D	0.99814	D;D;D;D;D	0.61697	0.984;0.99;0.984;0.984;0.99	D;D;D;D;D	0.73380	0.956;0.98;0.956;0.956;0.98	T	0.40831	-0.9542	10	0.12766	T	0.61	-20.1129	6.9306	0.24439	0.0:0.6437:0.0:0.3563	.	633;744;748;713;744	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	744;744;744;713	ENSP00000377591:E744D;ENSP00000449396:E744D;ENSP00000302919:E744D;ENSP00000267064:E713D	ENSP00000267064:E713D	E	-	3	2	SMARCC2	54851437	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	0.250000	0.18235	0.729000	0.32403	0.655000	0.94253	GAG		0.552	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			78	304	1	0	1.30681e-28	1	1.52204e-28	78	304				
CSGALNACT2	55454	broad.mit.edu	37	10	43650908	43650908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650908C>T	ENST00000374466.3	+	2	646	c.311C>T	c.(310-312)gCt>gTt	p.A104V	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	104					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGTAGGGGCTAATGGCATA	0.433																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(310-312)gCt>gTt		chondroitin sulfate N-acetylgalactosaminyltransferase 2							73.0	62.0	66.0					10																	43650908		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650908C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.311C>T	10.37:g.43650908C>T	ENSP00000363590:p.Ala104Val					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	p.A104V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	646	+			104					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.311C>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236205	0.22626	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.15256	2.44;2.44	5.56	2.68	0.31781	.	0.553571	0.21419	N	0.074849	T	0.06325	0.0163	N	0.03115	-0.41	0.28538	N	0.91226	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33954	-0.9848	10	0.21014	T	0.42	0.0722	6.5965	0.22677	0.0:0.5503:0.2714:0.1783	.	104;104	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	V	104	ENSP00000363590:A104V;ENSP00000363588:A104V	ENSP00000363588:A104V	A	+	2	0	CSGALNACT2	42970914	0.286000	0.24305	0.957000	0.39632	0.985000	0.73830	0.642000	0.24735	0.387000	0.25024	0.650000	0.86243	GCT		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		48	229	0	0	0	1	0	48	229				
DAGLA	747	broad.mit.edu	37	11	61507115	61507115	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61507115A>C	ENST00000257215.5	+	17	1951	c.1835A>C	c.(1834-1836)cAc>cCc	p.H612P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	612					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCACAACCACCCTGCAGAG	0.657																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1834-1836)cAc>cCc		diacylglycerol lipase, alpha							88.0	77.0	81.0					11																	61507115		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61507115A>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1835A>C	11.37:g.61507115A>C	ENSP00000257215:p.His612Pro						p.H612P	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	17	1951	+			612					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1835A>C	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701586	0.68501	.	.	ENSG00000134780	ENST00000257215	T	0.25749	1.78	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.35847	-0.9772	10	0.42905	T	0.14	-33.9652	13.6453	0.62277	1.0:0.0:0.0:0.0	.	612	Q9Y4D2	DGLA_HUMAN	P	612	ENSP00000257215:H612P	ENSP00000257215:H612P	H	+	2	0	DAGLA	61263691	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.266000	0.95659	1.688000	0.51068	0.379000	0.24179	CAC		0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		53	228	0	0	0	1	0	53	228				
SGK3	23678	broad.mit.edu	37	8	67710851	67710851	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67710851T>G	ENST00000396596.1	+	3	385	c.171T>G	c.(169-171)ctT>ctG	p.L57L	SGK3_ENST00000520976.1_Silent_p.L57L|SGK3_ENST00000522398.1_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L|SGK3_ENST00000521198.2_Silent_p.L57L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	57	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTGATAAACTTTATAACACTG	0.303																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(169-171)ctT>ctG		serum/glucocorticoid regulated kinase family, member 3							140.0	154.0	149.0					8																	67710851		2203	4299	6502	SO:0001819	synonymous_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67710851T>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.171T>G	8.37:g.67710851T>G						SGK3_ENST00000520976.1_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L|SGK3_ENST00000522398.1_Silent_p.L57L|SGK3_ENST00000521198.2_Silent_p.L57L	p.L57L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		3	385	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	57			PX.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Silent	SNP	ENST00000396596.1	37	c.171T>G	CCDS6195.1																																																																																				0.303	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			30	598	0	0	0	1	0	30	598				
TFDP1	7027	broad.mit.edu	37	13	114288234	114288234	+	Silent	SNP	C	C	T	rs374253994		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114288234C>T	ENST00000375370.5	+	7	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_ENST00000538138.1_Silent_p.R73R|TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	168					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TAAGACGGCGCGTCTACGATG	0.488										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(502-504)cgC>cgT		transcription factor Dp-1		C		0,4406		0,0,2203	113.0	107.0	109.0		504	-8.6	0.9	13		109	1,8599		0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/411	114288234	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114288234C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.504C>T	13.37:g.114288234C>T		TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.R73R	p.R168R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		7	716	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	168					B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.504C>T	CCDS9538.1																																																																																				0.488	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		70	424	0	0	0	1	0	70	424				
SLC25A11	8402	broad.mit.edu	37	17	4841116	4841116	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841116G>A	ENST00000225665.7	-	8	1205	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.L238L|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	289					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGGGGGCCCAGGCGGGCATAG	0.607																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(865-867)Ctg>Ttg		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							74.0	82.0	79.0					17																	4841116		2203	4300	6503	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841116G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.865C>T	17.37:g.4841116G>A						SLC25A11_ENST00000544061.2_Silent_p.L238L	p.L289L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN			8	1205	-			289					F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.865C>T	CCDS11059.1																																																																																				0.607	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		104	438	0	0	0	1	0	104	438				
MYO1D	4642	broad.mit.edu	37	17	31082531	31082531	+	Silent	SNP	G	G	A	rs189288278	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31082531G>A	ENST00000318217.5	-	11	1750	c.1446C>T	c.(1444-1446)caC>caT	p.H482H	MYO1D_ENST00000579584.1_Silent_p.H482H|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.H394H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	482	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAAATGGGCGTGTTTGCCCA	0.393													G|||	12	0.00239617	0.0	0.0	5008	,	,		20686	0.0119		0.0	False		,,,				2504	0.0					ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1444-1446)caC>caT		myosin ID							126.0	113.0	117.0					17																	31082531		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31082531G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1446C>T	17.37:g.31082531G>A						MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.H394H|MYO1D_ENST00000579584.1_Silent_p.H482H	p.H482H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		11	1750	-			482			Myosin head-like.		A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.1446C>T	CCDS32615.1																																																																																				0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			58	296	0	0	0	1	0	58	296				
ZNF615	284370	broad.mit.edu	37	19	52496964	52496964	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496964G>A	ENST00000602063.1	-	6	1714	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	ZNF615_ENST00000598071.1_Silent_p.P466P|ZNF615_ENST00000594083.1_Silent_p.P466P|ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000376716.5_Silent_p.P455P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATACATAGGGTTTCTCTC	0.428																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1363-1365)ccC>ccT		zinc finger protein 615							98.0	81.0	87.0					19																	52496964		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496964G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1365C>T	19.37:g.52496964G>A						ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000376716.5_Silent_p.P455P|ZNF615_ENST00000598071.1_Silent_p.P466P|ZNF615_ENST00000594083.1_Silent_p.P466P	p.P455P			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1714	-		all_neural(266;0.117)	455					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1365C>T	CCDS12846.1																																																																																				0.428	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		52	223	0	0	0	1	0	52	223				
SUPT6H	6830	broad.mit.edu	37	17	27010748	27010748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010748C>T	ENST00000314616.6	+	17	2426	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	715	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R715W(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGCCATCGAACGGGCTTTACA	0.498																																						ENST00000314616.6																			1	Substitution - Missense(1)	p.R715W(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2143-2145)Cgg>Tgg		suppressor of Ty 6 homolog (S. cerevisiae)							74.0	73.0	74.0					17																	27010748		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010748C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2143C>T	17.37:g.27010748C>T	ENSP00000319104:p.Arg715Trp					SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	p.R715W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			17	2426	+	Lung NSC(42;0.00431)		715					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.2143C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998760	0.74818	.	.	ENSG00000109111	ENST00000314616	T	0.40756	1.02	5.39	5.39	0.77823	Tex-like domain (1);	0.060685	0.64402	D	0.000003	T	0.57740	0.2074	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.58391	0.838	T	0.53585	-0.8418	10	0.36615	T	0.2	-1.2919	19.2162	0.93780	0.0:1.0:0.0:0.0	.	715	Q7KZ85	SPT6H_HUMAN	W	715	ENSP00000319104:R715W	ENSP00000319104:R715W	R	+	1	2	SUPT6H	24034875	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.930000	0.48924	2.557000	0.86248	0.650000	0.86243	CGG		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		53	237	0	0	0	1	0	53	237				
IGHV1-8	28472	broad.mit.edu	37	14	106539333	106539333	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106539333G>A	ENST00000390599.2	-	0	158									immunoglobulin heavy variable 1-8																		GAGGCCCCAGGCTTCTTCACC	0.547																																						ENST00000390599.2																			0																				89.0	69.0	76.0					14																	106539333		1795	3458	5253			0							g.chr14:106539333G>A	M99637		14q32.33	2012-02-08			ENSG00000211939			"""Immunoglobulins / IGH locus"""	5559	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152284		14.37:g.106539333G>A														0	158	-									RNA	SNP	ENST00000390599.2	37																																																																																						0.547	IGHV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325672.1	NG_001019		174	196	0	0	0	1	0	174	196				
EED	8726	broad.mit.edu	37	11	85988142	85988142	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988142A>G	ENST00000263360.6	+	10	1773	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	EED_ENST00000527888.1_Missense_Mutation_p.I28V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000351625.6_Missense_Mutation_p.I388V|EED_ENST00000327320.4_Missense_Mutation_p.I363V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	363	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CCAGTGTGACATTTGGTACAT	0.358																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(1087-1089)Att>Gtt		embryonic ectoderm development							168.0	171.0	170.0					11																	85988142		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85988142A>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1087A>G	11.37:g.85988142A>G	ENSP00000263360:p.Ile363Val					EED_ENST00000527888.1_Missense_Mutation_p.I28V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000327320.4_Missense_Mutation_p.I363V|EED_ENST00000351625.6_Missense_Mutation_p.I388V	p.I363V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			10	1773	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	363			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.1087A>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.856552	0.91355	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564;ENST00000524673;ENST00000527888	T;T;T;T;T	0.64618	1.71;1.62;1.71;1.71;-0.11	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	L	0.56280	1.765	0.80722	D	1	P;D;P;B	0.59357	0.684;0.985;0.867;0.226	P;D;P;B	0.67548	0.525;0.952;0.664;0.19	T	0.73363	-0.4006	9	.	.	.	-14.2414	16.0343	0.80612	1.0:0.0:0.0:0.0	.	363;283;388;363	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	V	363;283;388;363;112;28;28	ENSP00000263360:I363V;ENSP00000431778:I283V;ENSP00000338186:I388V;ENSP00000315587:I363V;ENSP00000437318:I28V	.	I	+	1	0	EED	85665790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.198000	0.70561	0.533000	0.62120	ATT		0.358	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		101	444	0	0	0	1	0	101	444				
EVX1	2128	broad.mit.edu	37	7	27284774	27284774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27284774G>A	ENST00000496902.4	+	2	1021	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000535619.1_5'UTR|EVX1_ENST00000222761.3_Silent_p.A160A			P49640	EVX1_HUMAN	even-skipped homeobox 1	179					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGCGTGCAGCGCCAGTGACCA	0.672																																						ENST00000496902.4																			0				kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(535-537)Gcc>Acc		even-skipped homeobox 1							39.0	43.0	42.0					7																	27284774		2203	4300	6503	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27284774G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.535G>A	7.37:g.27284774G>A	ENSP00000419266:p.Ala179Thr					EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_5'UTR|EVX1_ENST00000222761.3_Silent_p.A160A	p.A179T			P49640	EVX1_HUMAN			2	1021	+			179					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.535G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387359	0.82902	.	.	ENSG00000106038	ENST00000496902	D	0.95656	-3.77	5.41	5.41	0.78517	Homeodomain-related (1);Homeodomain-like (1);	0.103751	0.64402	D	0.000004	D	0.93726	0.7995	M	0.64997	1.995	0.80722	D	1	P	0.47350	0.894	B	0.36092	0.217	D	0.94154	0.7408	10	0.52906	T	0.07	-20.9374	19.1941	0.93679	0.0:0.0:1.0:0.0	.	179	P49640	EVX1_HUMAN	T	179	ENSP00000419266:A179T	ENSP00000419266:A179T	A	+	1	0	EVX1	27251299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.718000	0.68455	2.542000	0.85734	0.462000	0.41574	GCC		0.672	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			99	368	0	0	0	1	0	99	368				
ATP8A1	10396	broad.mit.edu	37	4	42626570	42626570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42626570C>A	ENST00000381668.5	-	4	577	c.346G>T	c.(346-348)Gag>Tag	p.E116*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	116					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCTATTATCTCTTTGATAGCT	0.264																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(346-348)Gag>Tag		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						39.0	41.0	41.0					4																	42626570		2203	4297	6500	SO:0001587	stop_gained	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42626570C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.346G>T	4.37:g.42626570C>A	ENSP00000371084:p.Glu116*					ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	p.E116*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			4	577	-			116					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	37	c.346G>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	38	6.813806	0.97857	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8683	0.96840	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000264449:E116X	E	-	1	0	ATP8A1	42321327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.346000	0.79347	2.753000	0.94483	0.655000	0.94253	GAG		0.264	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		19	174	1	0	1.37657e-19	1	1.53676e-19	19	174				
NCK2	8440	broad.mit.edu	37	2	106471526	106471526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106471526G>A	ENST00000233154.4	+	3	449	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	AC009505.2_ENST00000596418.1_RNA|NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000427050.2_RNA|AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.E3K|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	3	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						AAAGATGACAGAAGAAGTTAT	0.483																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(7-9)Gaa>Aaa		NCK adaptor protein 2							79.0	80.0	80.0					2																	106471526		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106471526G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.7G>A	2.37:g.106471526G>A	ENSP00000233154:p.Glu3Lys					NCK2_ENST00000522586.1_Missense_Mutation_p.E3K|NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K	p.E3K	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			3	449	+			3			SH3 1.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.7G>A	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565474	0.96527	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.73152	-0.72;1.72;1.47;1.72;1.46;-0.72	5.84	5.84	0.93424	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.35854	1.095	0.80722	D	1	D;P	0.67145	0.996;0.944	P;P	0.60286	0.872;0.581	T	0.78897	-0.2023	10	0.87932	D	0	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	3;3	E7ERP6;O43639	.;NCK2_HUMAN	K	3	ENSP00000233154:E3K;ENSP00000410428:E3K;ENSP00000377017:E3K;ENSP00000431109:E3K;ENSP00000408040:E3K;ENSP00000377018:E3K	ENSP00000233154:E3K	E	+	1	0	NCK2	105837958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.433000	0.97501	2.763000	0.94921	0.650000	0.86243	GAA		0.483	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		34	202	0	0	0	1	0	34	202				
KCNC2	3747	broad.mit.edu	37	12	75444879	75444879	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444879A>C	ENST00000549446.1	-	3	1586	c.906T>G	c.(904-906)gtT>gtG	p.V302V	KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000550433.1_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000393288.2_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	302					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TGGGTGAAAAAACAATACGGA	0.388																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(904-906)gtT>gtG		potassium voltage-gated channel, Shaw-related subfamily, member 2							113.0	106.0	108.0					12																	75444879		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444879A>C	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.906T>G	12.37:g.75444879A>C						KCNC2_ENST00000550433.1_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000393288.2_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V	p.V302V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			3	1586	-			302					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.906T>G	CCDS9007.1																																																																																				0.388	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		15	518	0	0	0	1	0	15	518				
FRMD8	83786	broad.mit.edu	37	11	65156957	65156957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65156957G>A	ENST00000317568.5	+	3	374	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	FRMD8_ENST00000416776.2_Missense_Mutation_p.A71T|FRMD8_ENST00000355991.5_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	71	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TCCAGACATCGCCCTGGATGT	0.647																																						ENST00000317568.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						c.(211-213)Gcc>Acc		FERM domain containing 8							57.0	40.0	46.0					11																	65156957		2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65156957G>A	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.211G>A	11.37:g.65156957G>A	ENSP00000319726:p.Ala71Thr					FRMD8_ENST00000416776.2_Missense_Mutation_p.A71T|FRMD8_ENST00000355991.5_Intron	p.A71T	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN			3	374	+			71			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.211G>A	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689184	0.68271	.	.	ENSG00000126391	ENST00000317568;ENST00000416776;ENST00000526201;ENST00000525156	D;D	0.85773	-1.86;-2.03	5.11	5.11	0.69529	Band 4.1 domain (1);FERM domain (1);	0.123969	0.52532	D	0.000061	D	0.91948	0.7450	M	0.81497	2.545	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.71656	0.955;0.974	D	0.91702	0.5374	10	0.41790	T	0.15	-5.9838	16.0501	0.80755	0.0:0.0:1.0:0.0	.	71;71	B4E2P1;Q9BZ67	.;FRMD8_HUMAN	T	71;71;63;71	ENSP00000319726:A71T;ENSP00000392111:A71T	ENSP00000319726:A71T	A	+	1	0	FRMD8	64913533	1.000000	0.71417	0.498000	0.27564	0.083000	0.17756	5.954000	0.70298	2.375000	0.81037	0.561000	0.74099	GCC		0.647	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		36	111	0	0	0	1	0	36	111				
HEY2	23493	broad.mit.edu	37	6	126080535	126080535	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126080535G>A	ENST00000368364.3	+	5	798	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	201					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCAGCCCAACGGCCTCCATGC	0.657																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(601-603)Ggc>Agc		hes-related family bHLH transcription factor with YRPW motif 2							120.0	123.0	122.0					6																	126080535		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080535G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.601G>A	6.37:g.126080535G>A	ENSP00000357348:p.Gly201Ser					HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	p.G201S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	798	+			201						Missense_Mutation	SNP	ENST00000368364.3	37	c.601G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682158	0.29872	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.57752	0.39;0.38	5.59	5.59	0.84812	.	0.710025	0.13163	N	0.408932	T	0.51975	0.1706	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.39800	-0.9596	10	0.07175	T	0.84	-17.0872	19.5876	0.95496	0.0:0.0:1.0:0.0	.	201	Q9UBP5	HEY2_HUMAN	S	155;201	ENSP00000357349:G155S;ENSP00000357348:G201S	ENSP00000357348:G201S	G	+	1	0	HEY2	126122228	.	.	0.998000	0.56505	0.608000	0.37181	.	.	2.625000	0.88918	0.561000	0.74099	GGC		0.657	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			254	1243	0	0	0	1	0	254	1243				
BEST2	54831	broad.mit.edu	37	19	12863439	12863439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12863439C>T	ENST00000549706.1	+	2	357	c.33C>T	c.(31-33)aaC>aaT	p.N11N	BEST2_ENST00000553030.1_Silent_p.N11N|BEST2_ENST00000042931.1_Silent_p.N11N			Q8NFU1	BEST2_HUMAN	bestrophin 2	11					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GAGTGGCGAACGCCCGCTTCG	0.652																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(31-33)aaC>aaT		bestrophin 2							51.0	54.0	53.0					19																	12863439		2102	4225	6327	SO:0001819	synonymous_variant	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12863439C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.33C>T	19.37:g.12863439C>T						BEST2_ENST00000553030.1_Silent_p.N11N|BEST2_ENST00000042931.1_Silent_p.N11N	p.N11N			Q8NFU1	BEST2_HUMAN			2	357	+			11					Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	c.33C>T	CCDS42506.1																																																																																				0.652	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		57	304	0	0	0	1	0	57	304				
KIAA1462	57608	broad.mit.edu	37	10	30316881	30316881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316881C>T	ENST00000375377.1	-	3	2297	c.2196G>A	c.(2194-2196)acG>acA	p.T732T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	732					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGCTGTGTGCGTCTGAGCTT	0.572																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2194-2196)acG>acA		KIAA1462							56.0	58.0	58.0					10																	30316881		2118	4244	6362	SO:0001819	synonymous_variant	57608							g.chr10:30316881C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2196G>A	10.37:g.30316881C>T							p.T732T	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2297	-			732					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.2196G>A	CCDS41500.1																																																																																				0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		16	262	0	0	0	1	0	16	262				
KIF21B	23046	broad.mit.edu	37	1	200959456	200959456	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200959456C>A	ENST00000422435.2	-	20	3156	c.2840G>T	c.(2839-2841)aGg>aTg	p.R947M	KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M|KIF21B_ENST00000332129.2_Missense_Mutation_p.R947M|KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	947					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTCCTCCCTTTTCTGGGG	0.637																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(2839-2841)aGg>aTg		kinesin family member 21B							18.0	19.0	18.0					1																	200959456		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200959456C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2840G>T	1.37:g.200959456C>A	ENSP00000411831:p.Arg947Met					KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M|KIF21B_ENST00000422435.2_Missense_Mutation_p.R947M|KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M	p.R947M	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			20	3156	-			947					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2840G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053658	0.93793	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.89746	-2.22;-2.52;-2.56;-2.25	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.59767	0.975;0.986;0.975;0.985	P;P;P;P	0.55161	0.466;0.621;0.594;0.77	D	0.94253	0.7495	10	0.87932	D	0	.	18.7361	0.91755	0.0:1.0:0.0:0.0	.	947;947;947;947	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	M	947	ENSP00000328494:R947M;ENSP00000353724:R947M;ENSP00000433808:R947M;ENSP00000411831:R947M	ENSP00000328494:R947M	R	-	2	0	KIF21B	199226079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.973000	0.56845	2.423000	0.82170	0.655000	0.94253	AGG		0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		26	83	1	0	9.57634e-11	1	1.01752e-10	26	83				
LMO7	4008	broad.mit.edu	37	13	76369557	76369557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76369557G>A	ENST00000341547.4	+	6	1754	c.494G>A	c.(493-495)aGa>aAa	p.R165K	LMO7_ENST00000357063.3_Missense_Mutation_p.R165K|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|LMO7_ENST00000321797.8_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	165	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTGACAGGAGAGTGAAAAAT	0.303																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(493-495)aGa>aAa		LIM domain 7							89.0	91.0	90.0					13																	76369557		2203	4295	6498	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76369557G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.494G>A	13.37:g.76369557G>A	ENSP00000342112:p.Arg165Lys					RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|LMO7_ENST00000341547.4_Missense_Mutation_p.R165K|LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|LMO7_ENST00000321797.8_5'UTR	p.R165K			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	6	1754	+		Breast(118;0.0992)	165			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.494G>A	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835958	0.91117	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.56	5.87	5.87	0.94306	.	0.050469	0.85682	D	0.000000	T	0.67711	0.2922	L	0.42245	1.32	0.54753	D	0.999989	P;D;D	0.71674	0.682;0.998;0.996	P;D;D	0.80764	0.692;0.994;0.987	T	0.57768	-0.7754	10	0.06757	T	0.87	-21.8128	20.1991	0.98252	0.0:0.0:1.0:0.0	.	74;165;113	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	K	165;165;165;113;74	ENSP00000342112:R165K;ENSP00000349571:R165K;ENSP00000366757:R165K;ENSP00000366719:R113K;ENSP00000431129:R74K	ENSP00000342112:R165K	R	+	2	0	LMO7	75267558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.690000	0.84178	2.775000	0.95449	0.650000	0.86243	AGA		0.303	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		59	349	0	0	0	1	0	59	349				
SYNE1	23345	broad.mit.edu	37	6	152673222	152673222	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152673222A>G	ENST00000367255.5	-	70	12121	c.11520T>C	c.(11518-11520)caT>caC	p.H3840H	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.H3825H|SYNE1_ENST00000448038.1_Silent_p.H3825H|SYNE1_ENST00000265368.4_Silent_p.H3840H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3840					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCAGGAACATGTAGAATTT	0.378										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11518-11520)caT>caC		spectrin repeat containing, nuclear envelope 1							154.0	146.0	149.0					6																	152673222		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152673222A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11520T>C	6.37:g.152673222A>G		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.H3825H|SYNE1_ENST00000265368.4_Silent_p.H3840H|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.H3825H	p.H3840H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	70	12121	-		Ovarian(120;0.0955)	3840					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.11520T>C	CCDS5236.2																																																																																				0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	598	0	0	0	1	0	15	598				
XIRP2	129446	broad.mit.edu	37	2	168108246	168108246	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108246C>T	ENST00000409195.1	+	9	10433	c.10344C>T	c.(10342-10344)ggC>ggT	p.G3448G	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G3226G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G3448G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3273					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCAAATCTGGCTGTGACTTCA	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(10342-10344)ggC>ggT		xin actin-binding repeat containing 2							61.0	61.0	61.0					2																	168108246		1917	4138	6055	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108246C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10344C>T	2.37:g.168108246C>T						XIRP2_ENST00000295237.9_Silent_p.G3448G|XIRP2_ENST00000409273.1_Silent_p.G3226G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.G3448G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	10433	+			3273					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.10344C>T	CCDS42769.1																																																																																				0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		71	236	0	0	0	1	0	71	236				
IGSF9	57549	broad.mit.edu	37	1	159897224	159897224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897224C>A	ENST00000368094.1	-	21	3648	c.3451G>T	c.(3451-3453)Gcc>Tcc	p.A1151S	TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1151					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGCGGAAGGCCAGGAATTCC	0.627																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3451-3453)Gcc>Tcc		immunoglobulin superfamily, member 9							47.0	51.0	50.0					1																	159897224		2203	4299	6502	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159897224C>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3451G>T	1.37:g.159897224C>A	ENSP00000357073:p.Ala1151Ser					IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S|IGSF9_ENST00000493195.1_5'UTR	p.A1151S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3648	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1151						Missense_Mutation	SNP	ENST00000368094.1	37	c.3451G>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771903	0.90108	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.67171	-0.25;-0.17	5.52	5.52	0.82312	.	0.000000	0.41500	D	0.000879	T	0.62368	0.2422	L	0.27053	0.805	0.33716	D	0.616383	D;D	0.58970	0.984;0.97	D;P	0.68192	0.956;0.681	T	0.63550	-0.6612	9	.	.	.	-17.8032	14.9501	0.71067	0.0:1.0:0.0:0.0	.	1151;689	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1135;1151;689	ENSP00000355049:A1135S;ENSP00000357073:A1151S	.	A	-	1	0	IGSF9	158163848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.635000	0.61332	2.608000	0.88229	0.563000	0.77884	GCC		0.627	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		75	522	1	0	2.08929e-35	1	2.49407e-35	75	522				
WARS	7453	broad.mit.edu	37	14	100813093	100813093	+	Silent	SNP	G	G	A	rs141490520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100813093G>A	ENST00000355338.2	-	7	1434	c.816C>T	c.(814-816)agC>agT	p.S272S	WARS_ENST00000358655.4_Silent_p.S231S|WARS_ENST00000392882.2_Silent_p.S272S|WARS_ENST00000557135.1_Silent_p.S272S|WARS_ENST00000556645.1_Silent_p.S231S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000344102.5_Silent_p.S231S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	272					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CAATGCAGTCGCTGTCAGTGA	0.473																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(814-816)agC>agT		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)	G	,,,	0,4406		0,0,2203	146.0	107.0	120.0		816,816,693,693	-5.3	0.9	14	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WARS	NM_004184.3,NM_173701.1,NM_213645.1,NM_213646.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	272/472,272/472,231/431,231/431	100813093	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100813093G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.816C>T	14.37:g.100813093G>A						WARS_ENST00000358655.4_Silent_p.S231S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Silent_p.S272S|WARS_ENST00000344102.5_Silent_p.S231S|WARS_ENST00000392882.2_Silent_p.S272S|WARS_ENST00000556645.1_Silent_p.S231S	p.S272S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			7	1434	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	272					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	c.816C>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	1.204	-0.631742	0.03584	0.0	1.16E-4	ENSG00000140105	ENST00000554601	.	.	.	5.79	-5.31	0.02730	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63225	-0.6685	4	.	.	.	-5.3317	13.9893	0.64355	0.5038:0.0:0.4962:0.0	.	.	.	.	V	25	.	.	A	-	2	0	WARS	99882846	0.775000	0.28604	0.912000	0.35992	0.023000	0.10783	0.026000	0.13599	-1.029000	0.03317	-0.982000	0.02568	GCG		0.473	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		50	220	0	0	0	1	0	50	220				
C11orf70	85016	broad.mit.edu	37	11	101951987	101951987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101951987C>A	ENST00000434758.2	+	6	678	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	217										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CAGATTACCTCTTCTGTCTTT	0.294																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(649-651)tCt>tAt		chromosome 11 open reading frame 70							84.0	87.0	86.0					11																	101951987		2203	4295	6498	SO:0001583	missense	85016							g.chr11:101951987C>A	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.650C>A	11.37:g.101951987C>A	ENSP00000414390:p.Ser217Tyr					C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	p.S217Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	6	678	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	217					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.650C>A	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517777	0.85495	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.74	5.74	0.90152	.	0.047893	0.85682	D	0.000000	D	0.83672	0.5305	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85111	0.0963	9	0.87932	D	0	-25.6465	18.8612	0.92273	0.0:1.0:0.0:0.0	.	217	Q9BRQ4	CK070_HUMAN	Y	217;217;179	.	ENSP00000392150:S179Y	S	+	2	0	C11orf70	101457197	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.119000	0.71590	2.873000	0.98535	0.563000	0.77884	TCT		0.294	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		48	229	1	0	1.04682e-39	1	1.26644e-39	48	229				
NEB	4703	broad.mit.edu	37	2	152471039	152471039	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152471039C>A	ENST00000172853.10	-	73	10770	c.10623G>T	c.(10621-10623)aaG>aaT	p.K3541N	NEB_ENST00000603639.1_Missense_Mutation_p.K3784N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000397345.3_Missense_Mutation_p.K3784N|NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000427231.2_Missense_Mutation_p.K3784N			P20929	NEBU_HUMAN	nebulin	3541					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGTCATCCTTAATGTTCC	0.458																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(11350-11352)aaG>aaT		nebulin							172.0	163.0	166.0					2																	152471039		1932	4133	6065	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152471039C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10623G>T	2.37:g.152471039C>A	ENSP00000172853:p.Lys3541Asn					NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000603639.1_Missense_Mutation_p.K3784N|NEB_ENST00000172853.10_Missense_Mutation_p.K3541N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000427231.2_Missense_Mutation_p.K3784N	p.K3784N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	77	11554	-			3784					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.11352G>T		.	.	.	.	.	.	.	.	.	.	C	9.261	1.043255	0.19748	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.41;3.4;3.38;3.41	5.78	-0.992	0.10232	.	0.799704	0.11944	N	0.514403	T	0.02494	0.0076	N	0.14661	0.345	0.80722	D	1	P	0.36412	0.552	B	0.28991	0.097	T	0.55296	-0.8163	10	0.18710	T	0.47	.	3.4418	0.07466	0.1104:0.5012:0.2146:0.1737	.	3541	P20929	NEBU_HUMAN	N	3541;3784;3784;3541	ENSP00000386259:K3541N;ENSP00000380505:K3784N;ENSP00000416578:K3784N;ENSP00000172853:K3541N	ENSP00000172853:K3541N	K	-	3	2	NEB	152179285	0.769000	0.28531	0.506000	0.27664	0.068000	0.16541	0.024000	0.13555	-0.084000	0.12595	0.655000	0.94253	AAG		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		297	767	1	0	6.59406e-113	1	8.48892e-113	297	767				
PIK3AP1	118788	broad.mit.edu	37	10	98376418	98376418	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98376418C>T	ENST00000339364.5	-	13	2111	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371109.3_Silent_p.K263K|PIK3AP1_ENST00000371110.2_Silent_p.K486K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	664					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTGATTTTTGCTTCTCTCTCT	0.433																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1990-1992)aaG>aaA		phosphoinositide-3-kinase adaptor protein 1							442.0	347.0	380.0					10																	98376418		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98376418C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1992G>A	10.37:g.98376418C>T						PIK3AP1_ENST00000371110.2_Silent_p.K486K|PIK3AP1_ENST00000371109.3_Silent_p.K263K	p.K664K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	13	2111	-		Colorectal(252;0.0442)	664					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.1992G>A	CCDS31259.1																																																																																				0.433	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		114	602	0	0	0	1	0	114	602				
RELN	5649	broad.mit.edu	37	7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103276725G>A	ENST00000428762.1	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000424685.2_Missense_Mutation_p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	754					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGACGCCGCCCATCTTTG	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(2260-2262)Cgg>Tgg		reelin							74.0	65.0	68.0					7																	103276725		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103276725G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2260C>T	7.37:g.103276725G>A	ENSP00000392423:p.Arg754Trp					RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000424685.2_Missense_Mutation_p.R754W	p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	18	2419	-			754					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2260C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420106	0.62622	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26518	1.73;1.73;1.73	5.76	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.50333	1.59	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.24764	-1.0151	10	0.62326	D	0.03	.	14.2494	0.66009	0.0:0.0:0.4862:0.5137	.	754;754	P78509-2;P78509	.;RELN_HUMAN	W	754	ENSP00000392423:R754W;ENSP00000345694:R754W;ENSP00000388446:R754W	ENSP00000345694:R754W	R	-	1	2	RELN	103063961	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.132000	0.31418	0.091000	0.17302	-0.282000	0.10007	CGG		0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		36	138	0	0	0	1	0	36	138				
TUT1	64852	broad.mit.edu	37	11	62346472	62346472	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62346472G>A	ENST00000476907.1	-	5	1412	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	TUT1_ENST00000308436.7_Silent_p.L279L|MIR3654_ENST00000496634.2_Silent_p.L241L			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	241	Pro-rich.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCGAGTCCAGCGATGGAGAT	0.542																																						ENST00000496634.2																			0				NS(1)	1						c.(721-723)Ctg>Ttg									30.0	36.0	34.0					11																	62346472		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr11:62346472G>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.721C>T	11.37:g.62346472G>A						TUT1_ENST00000476907.1_Silent_p.L241L|TUT1_ENST00000308436.7_Silent_p.L279L	p.L241L							5	766	-								A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	ENST00000476907.1	37	c.721C>T																																																																																					0.542	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		31	158	0	0	0	1	0	31	158				
LRRC16B	90668	broad.mit.edu	37	14	24527939	24527939	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24527939C>A	ENST00000342740.5	+	18	1597	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	481						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGCTGTCACCTGTGTAGGCA	0.637											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(1441-1443)acC>acA		leucine rich repeat containing 16B							95.0	97.0	96.0					14																	24527939		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24527939C>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1443C>A	14.37:g.24527939C>A			OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	LRRC16B_ENST00000334420.7_5'UTR	p.T481T	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	18	1597	+			481					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.1443C>A	CCDS32054.1																																																																																				0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		44	171	1	0	6.31075e-24	1	7.19376e-24	44	171				
TH	7054	broad.mit.edu	37	11	2189762	2189762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189762C>T	ENST00000381178.1	-	4	557	c.539G>A	c.(538-540)cGc>cAc	p.R180H	TH_ENST00000352909.3_Missense_Mutation_p.R149H|TH_ENST00000381175.1_Missense_Mutation_p.R176H|TH_ENST00000333684.5_Missense_Mutation_p.R153H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	180					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TGACACCTGGCGCACACCACT	0.711																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(538-540)cGc>cAc		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						15.0	17.0	16.0					11																	2189762		2189	4279	6468	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189762C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.539G>A	11.37:g.2189762C>T	ENSP00000370571:p.Arg180His					TH_ENST00000381175.1_Missense_Mutation_p.R176H|TH_ENST00000333684.5_Missense_Mutation_p.R153H|TH_ENST00000352909.3_Missense_Mutation_p.R149H	p.R180H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	4	557	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	180					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.539G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657311	0.47467	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	3.67	1.55	0.23275	.	0.199725	0.42821	N	0.000647	D	0.97377	0.9142	M	0.66939	2.045	0.33546	D	0.595514	P;B;B;D;D;D	0.58268	0.48;0.029;0.029;0.982;0.97;0.982	B;B;B;P;P;P	0.54544	0.036;0.003;0.003;0.755;0.574;0.755	D	0.96649	0.9480	10	0.87932	D	0	-13.4039	4.7319	0.12968	0.0:0.5847:0.1841:0.2312	.	153;153;149;149;180;176	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	H	180;176;149;153	ENSP00000370571:R180H;ENSP00000370567:R176H;ENSP00000325951:R149H;ENSP00000328814:R153H	ENSP00000328814:R153H	R	-	2	0	TH	2146338	0.999000	0.42202	0.769000	0.31535	0.084000	0.17831	0.518000	0.22847	0.657000	0.30906	-0.339000	0.08088	CGC		0.711	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		6	182	0	0	0	1	0	6	182				
PTPRT	11122	broad.mit.edu	37	20	41420011	41420011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:41420011C>T	ENST00000373187.1	-	3	309	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373198.4_Missense_Mutation_p.D104N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	104	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAATGGAAGTCGATGCAGTGG	0.567																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(310-312)Gac>Aac		protein tyrosine phosphatase, receptor type, T							53.0	57.0	56.0					20																	41420011		1947	4162	6109	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41420011C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.310G>A	20.37:g.41420011C>T	ENSP00000362283:p.Asp104Asn					PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D104N	p.D104N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			3	545	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	104			MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.310G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783982	0.70222	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.051333	0.85682	D	0.000000	T	0.03915	0.0110	L	0.48642	1.525	0.58432	D	0.999993	B;B	0.30563	0.242;0.285	B;B	0.25614	0.037;0.062	T	0.47142	-0.9140	10	0.66056	D	0.02	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	104;104	O14522-1;O14522	.;PTPRT_HUMAN	N	104	ENSP00000362286:D104N;ENSP00000362283:D104N;ENSP00000362289:D104N;ENSP00000348408:D104N;ENSP00000362294:D104N;ENSP00000362280:D104N;ENSP00000362297:D104N	ENSP00000348408:D104N	D	-	1	0	PTPRT	40853425	0.996000	0.38824	0.996000	0.52242	0.959000	0.62525	3.318000	0.51975	2.676000	0.91093	0.561000	0.74099	GAC		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			56	224	0	0	0	1	0	56	224				
HGFAC	3083	broad.mit.edu	37	4	3446679	3446679	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3446679C>T	ENST00000382774.3	+	8	1090	c.975C>T	c.(973-975)ggC>ggT	p.G325G	HGFAC_ENST00000511533.1_Silent_p.G325G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	325	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACTCCGTGGGCGCCGCGGCCC	0.716																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(973-975)ggC>ggT		HGF activator							15.0	17.0	16.0					4																	3446679		2190	4289	6479	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446679C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.975C>T	4.37:g.3446679C>T						HGFAC_ENST00000511533.1_Silent_p.G325G	p.G325G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	8	1090	+			325			Kringle.		Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.975C>T	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			27	96	0	0	0	1	0	27	96				
DNAAF2	55172	broad.mit.edu	37	14	50092390	50092390	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50092390A>G	ENST00000298292.8	-	3	2464	c.2384T>C	c.(2383-2385)gTt>gCt	p.V795A	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Missense_Mutation_p.V747A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	795					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TATATTGTGAACCGTAGTTTT	0.358																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(2383-2385)gTt>gCt		dynein, axonemal, assembly factor 2							193.0	177.0	183.0					14																	50092390		2203	4300	6503	SO:0001583	missense	0				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092390A>G	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2384T>C	14.37:g.50092390A>G	ENSP00000298292:p.Val795Ala					DNAAF2_ENST00000406043.3_Missense_Mutation_p.V747A	p.V795A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			3	2464	-			795					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.2384T>C	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	A	9.287	1.049545	0.19827	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.15372	2.43;2.43	5.17	4.03	0.46877	.	0.537427	0.17595	N	0.168625	T	0.16085	0.0387	L	0.57536	1.79	0.19945	N	0.999945	B;B	0.27351	0.172;0.176	B;B	0.25884	0.059;0.064	T	0.16867	-1.0388	10	0.32370	T	0.25	.	7.0326	0.24975	0.8197:0.0:0.1803:0.0	.	747;795	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	A	795;747	ENSP00000298292:V795A;ENSP00000384862:V747A	ENSP00000298292:V795A	V	-	2	0	DNAAF2	49162140	0.008000	0.16893	0.730000	0.30809	0.355000	0.29361	-0.127000	0.10547	1.077000	0.40990	0.451000	0.29950	GTT		0.358	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			25	206	0	0	0	1	0	25	206				
A2ML1	144568	broad.mit.edu	37	12	9002321	9002321	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9002321T>C	ENST00000299698.7	+	17	2265	c.2085T>C	c.(2083-2085)agT>agC	p.S695S	A2ML1_ENST00000539547.1_Silent_p.S204S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAGATTGCAGTCACAGATCTC	0.473																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(2083-2085)agT>agC		alpha-2-macroglobulin-like 1							118.0	112.0	114.0					12																	9002321		1895	4134	6029	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9002321T>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2085T>C	12.37:g.9002321T>C						A2ML1_ENST00000539547.1_Silent_p.S204S	p.S695S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			17	2265	+			539						Silent	SNP	ENST00000299698.7	37	c.2085T>C	CCDS8596.2																																																																																				0.473	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		60	297	0	0	0	1	0	60	297				
WFDC10B	280664	broad.mit.edu	37	20	44333605	44333605	+	5'UTR	SNP	C	C	A	rs373376690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44333605C>A	ENST00000330523.5	-	0	53				MIR3617_ENST00000577518.1_RNA|WFDC10B_ENST00000335769.2_Missense_Mutation_p.S9I|WFDC13_ENST00000305479.2_Intron	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B							extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TACACTTTTGCTTGCCCTCCT	0.488																																						ENST00000335769.2																			0				lung(2)|ovary(1)|stomach(1)	4						c.(25-27)aGc>aTc		WAP four-disulfide core domain 10B							182.0	162.0	169.0					20																	44333605		2203	4300	6503	SO:0001623	5_prime_UTR_variant	280664					extracellular region	peptidase inhibitor activity	g.chr20:44333605C>A	AF454506	CCDS13365.1, CCDS13366.1	20q13.12	2013-01-21			ENSG00000182931	ENSG00000182931		"""WAP four-disulfide core domain containing"""	20479	protein-coding gene	gene with protein product						12206714	Standard	NM_172006		Approved	WAP12	uc002xpb.3	Q8IUB3	OTTHUMG00000130227	ENST00000330523.5:c.-178G>T	20.37:g.44333605C>A						WFDC13_ENST00000305479.2_Intron|WFDC10B_ENST00000330523.5_5'UTR	p.S9I	NM_172131.2	NP_742143.1	Q8IUB3	WF10B_HUMAN			1	53	-		Myeloproliferative disorder(115;0.0122)	0					A6PVD7|Q0VAG0|Q0VAG1|Q5TGZ5|Q8IUB4	Missense_Mutation	SNP	ENST00000330523.5	37	c.26G>T	CCDS13366.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575304	0.28092	.	.	ENSG00000182931	ENST00000335769	.	.	.	1.98	0.926	0.19430	.	.	.	.	.	T	0.36744	0.0978	.	.	.	0.09310	N	1	D	0.56035	0.974	P	0.48952	0.596	T	0.20042	-1.0287	7	0.87932	D	0	.	6.4225	0.21752	0.0:0.5811:0.4189:0.0	.	9	Q8IUB3-2	.	I	9	.	ENSP00000337466:S9I	S	-	2	0	WFDC10B	43767019	0.001000	0.12720	0.001000	0.08648	0.421000	0.31385	0.272000	0.18644	0.336000	0.23639	0.313000	0.20887	AGC		0.488	WFDC10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252547.1			17	931	1	0	8.28177e-16	1	9.06825e-16	17	931				
WDR61	80349	broad.mit.edu	37	15	78585111	78585111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78585111G>T	ENST00000267973.2	-	5	437	c.166C>A	c.(166-168)Cta>Ata	p.L56I	WDR61_ENST00000558311.1_Missense_Mutation_p.L56I|WDR61_ENST00000558459.1_Intron|RP11-762H8.1_ENST00000560057.1_RNA			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	56					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTCCACTGTAGGTCCAGCCTC	0.517																																						ENST00000267973.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(166-168)Cta>Ata		WD repeat domain 61							62.0	57.0	59.0					15																	78585111		2196	4293	6489	SO:0001583	missense	80349						protein binding	g.chr15:78585111G>T		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.166C>A	15.37:g.78585111G>T	ENSP00000267973:p.Leu56Ile					WDR61_ENST00000558459.1_Intron|WDR61_ENST00000558311.1_Missense_Mutation_p.L56I	p.L56I			Q9GZS3	WDR61_HUMAN			5	437	-			56					D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	c.166C>A	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036652	0.54896	.	.	ENSG00000140395	ENST00000267973	D	0.82255	-1.59	5.91	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	L	0.49640	1.575	0.80722	D	1	B;B	0.26809	0.068;0.16	B;B	0.32533	0.141;0.147	T	0.73251	-0.4042	10	0.33940	T	0.23	-4.9475	8.9529	0.35801	0.1003:0.0:0.7482:0.1514	.	56;56	B4E387;Q9GZS3	.;WDR61_HUMAN	I	56	ENSP00000267973:L56I	ENSP00000267973:L56I	L	-	1	2	WDR61	76372166	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.389000	0.73199	1.484000	0.48361	0.655000	0.94253	CTA		0.517	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234		19	190	1	0	1.22574e-08	1	1.28258e-08	19	190				
ADAMTS18	170692	broad.mit.edu	37	16	77328833	77328833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77328833C>T	ENST00000282849.5	-	19	3411	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	998	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGACCAGGGTCCAAGGCTCCA	0.537																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2992-2994)gGa>gAa		ADAM metallopeptidase with thrombospondin type 1 motif, 18							87.0	70.0	76.0					16																	77328833		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77328833C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2993G>A	16.37:g.77328833C>T	ENSP00000282849:p.Gly998Glu						p.G998E	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			19	3411	-			998			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2993G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550931	0.65311	.	.	ENSG00000140873	ENST00000282849	T	0.63417	-0.04	5.79	4.84	0.62591	.	0.119417	0.56097	D	0.000025	T	0.78266	0.4256	M	0.81341	2.54	0.40781	D	0.983175	D;D	0.67145	0.996;0.986	D;D	0.69824	0.966;0.955	T	0.79806	-0.1648	10	0.39692	T	0.17	.	13.9284	0.63978	0.0:0.9275:0.0:0.0725	.	998;998	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	E	998	ENSP00000282849:G998E	ENSP00000282849:G998E	G	-	2	0	ADAMTS18	75886334	1.000000	0.71417	0.655000	0.29622	0.606000	0.37113	7.202000	0.77856	1.454000	0.47793	0.655000	0.94253	GGA		0.537	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			6	236	0	0	0	1	0	6	236				
LYVE1	10894	broad.mit.edu	37	11	10582264	10582264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10582264C>A	ENST00000256178.3	-	4	639	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	LYVE1_ENST00000531706.1_5'UTR|LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	161					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACAATAAATTCTGTTGTTTGT	0.443																																						ENST00000256178.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(481-483)Gaa>Taa		lymphatic vessel endothelial hyaluronan receptor 1							349.0	320.0	330.0					11																	10582264		2201	4294	6495	SO:0001587	stop_gained	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10582264C>A	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.481G>T	11.37:g.10582264C>A	ENSP00000256178:p.Glu161*					LYVE1_ENST00000531706.1_5'UTR|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*|MRVI1-AS1_ENST00000529829.1_RNA	p.E161*	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	4	639	-			161					Q8TC18|Q9UNF4	Nonsense_Mutation	SNP	ENST00000256178.3	37	c.481G>T	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903816	0.72754	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	.	.	.	5.27	4.36	0.52297	.	0.458728	0.25205	N	0.032356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6432	10.1961	0.43056	0.0:0.9076:0.0:0.0924	.	.	.	.	X	161;57	.	ENSP00000256178:E161X	E	-	1	0	LYVE1	10538840	0.272000	0.24172	0.731000	0.30826	0.016000	0.09150	0.920000	0.28705	1.376000	0.46267	0.650000	0.86243	GAA		0.443	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		72	745	1	0	2.69673e-31	1	3.17273e-31	72	745				
TMEM215	401498	broad.mit.edu	37	9	32784835	32784835	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32784835C>T	ENST00000342743.5	+	2	1019	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	218						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ATGACAGATACTGTTGTTATA	0.478																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(652-654)taC>taT		transmembrane protein 215							75.0	66.0	69.0					9																	32784835		2190	4273	6463	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784835C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.654C>T	9.37:g.32784835C>T							p.Y218Y	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	1019	+			218					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.654C>T	CCDS6530.1																																																																																				0.478	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		74	310	0	0	0	1	0	74	310				
TTYH2	94015	broad.mit.edu	37	17	72239558	72239558	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239558C>T	ENST00000269346.4	+	5	755	c.681C>T	c.(679-681)tgC>tgT	p.C227C	TTYH2_ENST00000529107.1_Silent_p.C206C|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	227						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGTCATCTGCCTCATTGCCT	0.607																																						ENST00000269346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(679-681)tgC>tgT		tweety family member 2							241.0	185.0	204.0					17																	72239558		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72239558C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.681C>T	17.37:g.72239558C>T						TTYH2_ENST00000529107.1_Silent_p.C206C|TTYH2_ENST00000534346.1_3'UTR	p.C227C	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN			5	755	+			227					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.681C>T	CCDS32717.1																																																																																				0.607	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			96	445	0	0	0	1	0	96	445				
AFF3	3899	broad.mit.edu	37	2	100209827	100209827	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100209827G>T	ENST00000409236.2	-	13	2408	c.2296C>A	c.(2296-2298)Ctc>Atc	p.L766I	AFF3_ENST00000317233.4_Missense_Mutation_p.L766I|AFF3_ENST00000409579.1_Missense_Mutation_p.L791I|AFF3_ENST00000356421.2_Missense_Mutation_p.L791I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	766					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGACCCAGAGAGACCTGATC	0.577																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2296-2298)Ctc>Atc		AF4/FMR2 family, member 3							70.0	65.0	67.0					2																	100209827		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209827G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2296C>A	2.37:g.100209827G>T	ENSP00000387207:p.Leu766Ile					AFF3_ENST00000409579.1_Missense_Mutation_p.L791I|AFF3_ENST00000409236.1_Missense_Mutation_p.L766I|AFF3_ENST00000356421.2_Missense_Mutation_p.L791I	p.L766I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2531	-			766					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2296C>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245767	0.80024	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.5	5.5	0.81552	.	0.211909	0.32578	N	0.005904	D	0.90068	0.6898	M	0.87180	2.865	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.96	D	0.90986	0.4831	10	0.62326	D	0.03	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	919;766;791	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	I	766;791;791;766;766;919	ENSP00000317421:L766I;ENSP00000348793:L791I;ENSP00000386834:L791I;ENSP00000387207:L766I	ENSP00000317421:L766I	L	-	1	0	AFF3	99576259	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.829000	0.75314	2.596000	0.87737	0.561000	0.74099	CTC		0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		56	301	1	0	1.39843e-22	1	1.58406e-22	56	301				
LRRC7	57554	broad.mit.edu	37	1	70503819	70503819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70503819C>T	ENST00000035383.5	+	19	2228	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	LRRC7_ENST00000310961.5_Missense_Mutation_p.P738L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	733						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCCCACAGCCTCTTGATTCA	0.498																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2212-2214)cCt>cTt		leucine rich repeat containing 7							146.0	154.0	151.0					1																	70503819		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503819C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2198C>T	1.37:g.70503819C>T	ENSP00000035383:p.Pro733Leu					LRRC7_ENST00000035383.5_Missense_Mutation_p.P733L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L	p.P738L			Q96NW7	LRRC7_HUMAN			22	2631	+			733					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2213C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999194	0.54147	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.68025	-0.3;-0.18;1.35	5.38	4.46	0.54185	.	0.128125	0.52532	D	0.000064	T	0.67401	0.2889	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.71656	0.974;0.879	T	0.67110	-0.5753	10	0.33141	T	0.24	.	13.5366	0.61650	0.0:0.9239:0.0:0.0761	.	17;733	F8WE45;Q96NW7	.;LRRC7_HUMAN	L	738;733;17;556	ENSP00000309245:P738L;ENSP00000035383:P733L;ENSP00000394867:P17L	ENSP00000035383:P733L	P	+	2	0	LRRC7	70276407	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.420000	0.80191	1.250000	0.43966	0.467000	0.42956	CCT		0.498	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		76	841	0	0	0	1	0	76	841				
SPTA1	6708	broad.mit.edu	37	1	158612750	158612750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158612750C>T	ENST00000368147.4	-	32	4639	c.4459G>A	c.(4459-4461)Gca>Aca	p.A1487T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1487					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCAGTTGTGCTTTGAGAGCC	0.488																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4459-4461)Gca>Aca		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							105.0	96.0	99.0					1																	158612750		1991	4176	6167	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612750C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4459G>A	1.37:g.158612750C>T	ENSP00000357129:p.Ala1487Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1487T	p.A1487T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			32	4639	-	all_hematologic(112;0.0378)		1487					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4459G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117860	0.20877	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.2	1.14	0.20703	.	2.573990	0.02328	N	0.073630	T	0.17831	0.0428	L	0.41573	1.285	0.22317	N	0.999201	B	0.06786	0.001	B	0.09377	0.004	T	0.06954	-1.0798	10	0.29301	T	0.29	.	6.6757	0.23093	0.0:0.6484:0.1288:0.2228	.	1487	P02549	SPTA1_HUMAN	T	1487	ENSP00000357130:A1487T;ENSP00000357129:A1487T	ENSP00000357129:A1487T	A	-	1	0	SPTA1	156879374	0.961000	0.32948	0.035000	0.18076	0.702000	0.40608	1.766000	0.38491	0.057000	0.16193	0.655000	0.94253	GCA		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		10	257	0	0	0	1	0	10	257				
SPHKAP	80309	broad.mit.edu	37	2	228846450	228846450	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228846450G>T	ENST00000392056.3	-	12	5132	c.5086C>A	c.(5086-5088)Ctc>Atc	p.L1696I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1696						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTCCAAGAGCCAGTCAAAG	0.438																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(5086-5088)Ctc>Atc		SPHK1 interactor, AKAP domain containing							103.0	91.0	95.0					2																	228846450		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228846450G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.5086C>A	2.37:g.228846450G>T	ENSP00000375909:p.Leu1696Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	p.L1696I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	12	5132	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1696					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.5086C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488035	0.84854	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14516	2.5;2.5	5.85	5.85	0.93711	A-kinase anchor 110kDa, C-terminal (1);	0.064498	0.64402	D	0.000011	T	0.37571	0.1008	M	0.64260	1.97	0.54753	D	0.999989	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.909	T	0.00945	-1.1505	10	0.48119	T	0.1	.	19.1516	0.93491	0.0:0.0:1.0:0.0	.	1696;1667	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	1696;1667	ENSP00000375909:L1696I;ENSP00000339886:L1667I	ENSP00000339886:L1667I	L	-	1	0	SPHKAP	228554694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	2.773000	0.95371	0.655000	0.94253	CTC		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		64	300	1	0	2.05175e-36	1	2.45602e-36	64	300				
DHX34	9704	broad.mit.edu	37	19	47870358	47870358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47870358G>A	ENST00000328771.4	+	7	2063	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	572					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCTCAGAGGCCCTCACACC	0.667																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1714-1716)Gcc>Acc		DEAH (Asp-Glu-Ala-His) box polypeptide 34							38.0	37.0	37.0					19																	47870358		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47870358G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1714G>A	19.37:g.47870358G>A	ENSP00000331907:p.Ala572Thr					DHX34_ENST00000471451.1_3'UTR	p.A572T	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	7	2063	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	572					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1714G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119434	0.37436	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02631	4.22	5.46	1.91	0.25777	Helicase-associated domain (2);	0.562264	0.16895	N	0.195155	T	0.02119	0.0066	N	0.26162	0.8	0.30097	N	0.807772	B	0.14438	0.01	B	0.17979	0.02	T	0.34279	-0.9835	10	0.19147	T	0.46	-24.4834	6.3607	0.21427	0.2459:0.1443:0.6098:0.0	.	572	Q14147	DHX34_HUMAN	T	572;487	ENSP00000331907:A572T	ENSP00000257252:A487T	A	+	1	0	DHX34	52562193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.792000	0.26929	1.215000	0.43411	0.561000	0.74099	GCC		0.667	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		38	159	0	0	0	1	0	38	159				
TCEB3CL	728929	broad.mit.edu	37	18	44549187	44549187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549187G>A	ENST00000451265.1	-	1	1347	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	371	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T371M(1)		central_nervous_system(1)|lung(1)|prostate(1)	3						CTGATCGGGCGTCCACCCTTC	0.587																																						ENST00000451265.1																			1	Substitution - Missense(1)	p.T371M(1)	lung(1)	central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1111-1113)aCg>aTg		transcription elongation factor B polypeptide 3C-like							260.0	221.0	234.0					18																	44549187		1740	3470	5210	SO:0001583	missense	728929							g.chr18:44549187G>A			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1112C>T	18.37:g.44549187G>A	ENSP00000409932:p.Thr371Met					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.T371M	NM_001100817.1	NP_001094287.1					1	1347	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1112C>T	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991850	0.35131	.	.	ENSG00000234298	ENST00000451265	T	0.34859	1.34	1.5	0.603	0.17541	.	0.000000	0.52532	D	0.000078	T	0.47021	0.1423	M	0.63843	1.955	0.25300	N	0.989283	D	0.71674	0.998	P	0.61874	0.895	T	0.30357	-0.9981	10	0.56958	D	0.05	-24.5205	7.7008	0.28621	0.0:0.2651:0.7349:0.0	.	371	Q3SY89	EA3L1_HUMAN	M	371	ENSP00000409932:T371M	ENSP00000409932:T371M	T	-	2	0	TCEB3CL	42803185	0.992000	0.36948	0.000000	0.03702	0.000000	0.00434	2.511000	0.45476	0.221000	0.20879	-0.232000	0.12228	ACG		0.587	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		97	2638	0	0	0	1	0	97	2638				
GLUD2	2747	broad.mit.edu	37	X	120182660	120182660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182660C>T	ENST00000328078.1	+	1	1199	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	374					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TCTTGGAGGTCGACTGTGACA	0.502																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1120-1122)gtC>gtT		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						193.0	171.0	179.0					X																	120182660		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182660C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1122C>T	X.37:g.120182660C>T							p.V374V	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1199	+			374					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.1122C>T	CCDS14603.1																																																																																				0.502	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		202	628	0	0	0	1	0	202	628				
NOC2L	26155	broad.mit.edu	37	1	892589	892589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892589C>T	ENST00000327044.6	-	3	293	c.244G>A	c.(244-246)Gag>Aag	p.E82K	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	82					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTGTAGAACTCGGGGTCTCTG	0.592																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(244-246)Gag>Aag		nucleolar complex associated 2 homolog (S. cerevisiae)							69.0	74.0	72.0					1																	892589		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:892589C>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.244G>A	1.37:g.892589C>T	ENSP00000317992:p.Glu82Lys					NOC2L_ENST00000487214.1_5'UTR	p.E82K	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	293	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	82					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.244G>A	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401737	0.83120	.	.	ENSG00000188976	ENST00000327044	T	0.48201	0.82	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	T	0.77321	-0.2631	10	0.87932	D	0	-29.294	16.9781	0.86319	0.0:1.0:0.0:0.0	.	82;82	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	K	82	ENSP00000317992:E82K	ENSP00000317992:E82K	E	-	1	0	NOC2L	882452	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	7.297000	0.78799	2.254000	0.74563	0.558000	0.71614	GAG		0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		90	336	0	0	0	1	0	90	336				
SYNGR1	9145	broad.mit.edu	37	22	39770548	39770548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39770548C>T	ENST00000328933.5	+	2	342	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	109	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTCCGACATCGGTGTCTCGG	0.632																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(325-327)atC>atT		synaptogyrin 1							84.0	59.0	67.0					22																	39770548		2203	4300	6503	SO:0001819	synonymous_variant	9145							g.chr22:39770548C>T	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.327C>T	22.37:g.39770548C>T						SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I|SYNGR1_ENST00000216155.7_Silent_p.I109I	p.I109I	NM_004711.4	NP_004702.2					2	342	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	ENST00000328933.5	37	c.327C>T	CCDS13989.1																																																																																				0.632	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		56	270	0	0	0	1	0	56	270				
AVPR1A	552	broad.mit.edu	37	12	63544452	63544452	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63544452G>A	ENST00000299178.2	-	1	270	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	55					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCAGCACGGCGATCTCCAGTT	0.697																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(163-165)atC>atT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						44.0	38.0	40.0					12																	63544452		2191	4273	6464	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544452G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.165C>T	12.37:g.63544452G>A							p.I55I	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	270	-			55						Silent	SNP	ENST00000299178.2	37	c.165C>T	CCDS8965.1																																																																																				0.697	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			58	272	0	0	0	1	0	58	272				
GAK	2580	broad.mit.edu	37	4	860197	860197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:860197G>A	ENST00000314167.4	-	22	3108	c.2998C>T	c.(2998-3000)Cac>Tac	p.H1000Y	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.H921Y	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1000					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAGCACTGTGGGCAGACGGG	0.627																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(2998-3000)Cac>Tac		cyclin G associated kinase							80.0	76.0	78.0					4																	860197		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:860197G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2998C>T	4.37:g.860197G>A	ENSP00000314499:p.His1000Tyr					GAK_ENST00000511163.1_Missense_Mutation_p.H921Y|GAK_ENST00000509566.1_5'UTR	p.H1000Y	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	22	3108	-			1000					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2998C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.229|3.229	-0.157847|-0.157847	0.06544|0.06544	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	T;T|.	0.78126|.	-0.7;-1.15|.	5.24|5.24	4.38|4.38	0.52667|0.52667	.|.	0.243165|.	0.40908|.	D|.	0.000991|.	T|T	0.63931|0.63931	0.2553|0.2553	L|L	0.60455|0.60455	1.87|1.87	0.38800|0.38800	D|D	0.955176|0.955176	B;P;B;B|.	0.40578|.	0.262;0.722;0.161;0.263|.	B;B;B;B|.	0.33454|.	0.147;0.164;0.104;0.067|.	T|T	0.64753|0.64753	-0.6333|-0.6333	10|5	0.49607|.	T|.	0.09|.	-30.6063|-30.6063	12.7363|12.7363	0.57225|0.57225	0.0:0.0:0.8341:0.1659|0.0:0.0:0.8341:0.1659	.|.	902;921;1000;885|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	Y|L	276;1000;921|119	ENSP00000314499:H1000Y;ENSP00000421361:H921Y|.	ENSP00000314499:H1000Y|.	H|P	-|-	1|2	0|0	GAK|GAK	850197|850197	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.033000|0.033000	0.12548|0.12548	3.085000|3.085000	0.50151|0.50151	1.162000|1.162000	0.42619|0.42619	0.561000|0.561000	0.74099|0.74099	CAC|CCA		0.627	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		42	266	0	0	0	1	0	42	266				
UBR4	23352	broad.mit.edu	37	1	19524267	19524267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19524267G>T	ENST00000375254.3	-	7	817	c.790C>A	c.(790-792)Cca>Aca	p.P264T	UBR4_ENST00000375226.2_Missense_Mutation_p.P264T|UBR4_ENST00000375217.2_Missense_Mutation_p.P264T|UBR4_ENST00000375267.2_Missense_Mutation_p.P264T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	264					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGAAATATGGCAGGTTCAAA	0.423																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(790-792)Cca>Aca		ubiquitin protein ligase E3 component n-recognin 4							155.0	150.0	152.0					1																	19524267		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19524267G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.790C>A	1.37:g.19524267G>T	ENSP00000364403:p.Pro264Thr					UBR4_ENST00000375217.2_Missense_Mutation_p.P264T|UBR4_ENST00000375226.2_Missense_Mutation_p.P264T|UBR4_ENST00000375254.3_Missense_Mutation_p.P264T	p.P264T			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	7	793	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	264					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.790C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341787	0.81911	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.35605	1.33;1.33;1.3;1.31	5.8	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.50333	1.59	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.20706	-1.0267	10	0.87932	D	0	.	13.4566	0.61201	0.0754:0.0:0.9246:0.0	.	264	Q5T4S7	UBR4_HUMAN	T	264	ENSP00000364403:P264T;ENSP00000364416:P264T;ENSP00000364365:P264T;ENSP00000364374:P264T	ENSP00000364365:P264T	P	-	1	0	UBR4	19396854	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.383000	0.73172	1.460000	0.47911	0.650000	0.86243	CCA		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		30	668	1	0	5.52252e-06	1	5.67046e-06	30	668				
RRN3P1	730092	broad.mit.edu	37	16	21814035	21814035	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21814035C>A	ENST00000546471.1	-	0	1621							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CAATACCCTGCCGGGATGCAT	0.358																																						ENST00000546471.1																			0																																																			0							g.chr16:21814035C>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814035C>A														0	1621	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.358	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		65	179	1	0	5.62145e-24	1	6.41091e-24	65	179				
TMEM255A	55026	broad.mit.edu	37	X	119394785	119394785	+	Silent	SNP	C	C	T	rs138279635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119394785C>T	ENST00000309720.5	-	10	1113	c.990G>A	c.(988-990)ccG>ccA	p.P330P	TMEM255A_ENST00000440464.1_Silent_p.P222P|TMEM255A_ENST00000371352.1_Silent_p.P166P|TMEM255A_ENST00000371369.4_Silent_p.P306P	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	330	Pro-rich.					integral component of membrane (GO:0016021)		p.P330P(1)									AGTAACGGGGCGGTGCACTTG	0.527													C|||	1	0.000264901	0.0	0.0	3775	,	,		13039	0.0		0.001	False		,,,				2504	0.0					ENST00000371369.4																			1	Substitution - coding silent(1)	p.P330P(1)	lung(1)								c.(916-918)ccG>ccA		transmembrane protein 255A		C	,,	2,3833		0,2,1630,571	127.0	103.0	111.0		918,666,990	-0.1	1.0	X	dbSNP_134	111	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM70A	NM_001104544.1,NM_001104545.1,NM_017938.3	,,	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	,,	306/326,222/242,330/350	119394785	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	55026							g.chrX:119394785C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.990G>A	X.37:g.119394785C>T						TMEM255A_ENST00000309720.5_Silent_p.P330P|TMEM255A_ENST00000440464.1_Silent_p.P222P|TMEM255A_ENST00000371352.1_Silent_p.P166P	p.P306P	NM_001104544.1	NP_001098014.1					9	1144	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.918G>A	CCDS14597.1																																																																																				0.527	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		14	246	0	0	0	1	0	14	246				
PRG4	10216	broad.mit.edu	37	1	186277190	186277190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277190G>A	ENST00000445192.2	+	7	2384	c.2339G>A	c.(2338-2340)gGg>gAg	p.G780E	PRG4_ENST00000367485.4_Missense_Mutation_p.G687E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367483.4_Missense_Mutation_p.G739E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	780	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGGGACTGCTCCA	0.607																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2338-2340)gGg>gAg		proteoglycan 4							175.0	197.0	190.0					1																	186277190		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277190G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2339G>A	1.37:g.186277190G>A	ENSP00000399679:p.Gly780Glu					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E|PRG4_ENST00000367483.4_Missense_Mutation_p.G739E	p.G780E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2384	+			780			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2339G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	0.878	-0.729726	0.03135	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04706	3.59;3.7;3.57;3.7	0.789	-1.58	0.08479	.	1.018730	0.07906	N	0.973555	T	0.01254	0.0041	N	0.00707	-1.245	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47923	-0.9079	9	.	.	.	.	2.9532	0.05868	0.6619:0.0:0.3381:0.0	.	646;687;780;739	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	737;646;739;687;780	ENSP00000356456:G737E;ENSP00000356453:G739E;ENSP00000356455:G687E;ENSP00000399679:G780E	.	G	+	2	0	PRG4	184543813	0.001000	0.12720	0.004000	0.12327	0.008000	0.06430	-1.632000	0.02024	-0.199000	0.10317	-0.735000	0.03563	GGG		0.607	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		97	1135	0	0	0	1	0	97	1135				
STON1	11037	broad.mit.edu	37	2	48808368	48808368	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808368A>G	ENST00000406226.1	+	3	791	c.596A>G	c.(595-597)gAc>gGc	p.D199G	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1_ENST00000404752.1_Missense_Mutation_p.D199G|STON1_ENST00000309835.3_Missense_Mutation_p.D199G	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	199					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACCCTTGACCCACCAGGA	0.408																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(595-597)gAc>gGc		stonin 1							83.0	79.0	80.0					2																	48808368		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48808368A>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.596A>G	2.37:g.48808368A>G	ENSP00000384615:p.Asp199Gly					STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1_ENST00000406226.1_Missense_Mutation_p.D199G|STON1_ENST00000404752.1_Missense_Mutation_p.D199G	p.D199G					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	606	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.596A>G	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	6.936	0.542363	0.13250	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.11277	2.8;2.8;2.8;2.8;2.79;2.8;2.8;2.96	4.42	4.42	0.53409	.	0.526218	0.20876	N	0.084092	T	0.18509	0.0444	L	0.53249	1.67	0.09310	N	1	D;P;D	0.76494	0.999;0.651;0.999	D;B;D	0.72338	0.977;0.115;0.913	T	0.36768	-0.9734	10	0.19147	T	0.46	.	1.4856	0.02446	0.5238:0.1531:0.0883:0.2347	.	199;199;199	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	G	199	ENSP00000385273:D199G;ENSP00000384615:D199G;ENSP00000310969:D199G;ENSP00000385499:D199G;ENSP00000385701:D199G;ENSP00000378236:D199G;ENSP00000311493:D199G;ENSP00000378234:D199G	ENSP00000310969:D199G	D	+	2	0	STON1-GTF2A1L;STON1	48661872	0.159000	0.22864	0.386000	0.26170	0.293000	0.27360	0.993000	0.29680	2.209000	0.71365	0.533000	0.62120	GAC		0.408	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		108	309	0	0	0	1	0	108	309				
SLC1A4	6509	broad.mit.edu	37	2	65243637	65243637	+	Silent	SNP	C	C	T	rs202237988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65243637C>T	ENST00000234256.3	+	5	1107	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	288					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AAGACATCATCGTGCTGGTGA	0.458																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(862-864)atC>atT		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)	C	,	1,4405	2.1+/-5.4	0,1,2202	205.0	189.0	194.0		,864	-3.2	0.0	2		194	1,8599	1.2+/-3.3	0,1,4299	yes	intron,coding-synonymous	SLC1A4	NM_001193493.1,NM_003038.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	,288/533	65243637	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65243637C>T		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.864C>T	2.37:g.65243637C>T						SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	p.I288I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			5	1107	+			288					B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	c.864C>T	CCDS1879.1																																																																																				0.458	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		65	661	0	0	0	1	0	65	661				
FAM135A	57579	broad.mit.edu	37	6	71245970	71245970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71245970G>A	ENST00000418814.2	+	19	4587	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R	FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R|FAM135A_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R|FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1325										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGCTTTATTGGACATTCGTT	0.318																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3973-3975)Gga>Aga		family with sequence similarity 135, member A							101.0	103.0	103.0					6																	71245970		2202	4299	6501	SO:0001583	missense	57579							g.chr6:71245970G>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3973G>A	6.37:g.71245970G>A	ENSP00000410768:p.Gly1325Arg					FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R|FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R	p.G1325R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			19	4587	+			1325					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.3973G>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980492	0.92982	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.51	5.51	0.81932	Domain of unknown function DUF676, lipase-like (1);	0.096119	0.64402	D	0.000001	D	0.86744	0.6006	M	0.91038	3.17	0.80722	D	1	P;D;D;D;D	0.89917	0.933;1.0;1.0;0.981;1.0	D;D;D;D;D	0.97110	0.921;0.987;1.0;0.914;0.988	D	0.89187	0.3548	10	0.87932	D	0	.	19.4777	0.94995	0.0:0.0:1.0:0.0	.	905;1325;1325;1129;1112	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	R	1325;1112;905;1112;1129;1325	ENSP00000410768:G1325R;ENSP00000359510:G1112R;ENSP00000423785:G905R;ENSP00000409201:G1112R;ENSP00000354913:G1129R;ENSP00000423307:G1325R	ENSP00000354913:G1129R	G	+	1	0	FAM135A	71302691	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.766000	0.98957	2.575000	0.86900	0.585000	0.79938	GGA		0.318	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		55	288	0	0	0	1	0	55	288				
COL17A1	1308	broad.mit.edu	37	10	105836072	105836072	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105836072G>T	ENST00000353479.5	-	5	608	c.318C>A	c.(316-318)cgC>cgA	p.R106R	COL17A1_ENST00000393211.3_Silent_p.R106R|COL17A1_ENST00000369733.3_Silent_p.R106R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACGCATGGCGGGTAACGT	0.507																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(316-318)cgC>cgA		collagen, type XVII, alpha 1							202.0	201.0	201.0					10																	105836072		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105836072G>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.318C>A	10.37:g.105836072G>T						COL17A1_ENST00000369733.3_Silent_p.R106R|COL17A1_ENST00000393211.3_Silent_p.R106R	p.R106R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	5	608	-		Colorectal(252;0.103)|Breast(234;0.122)	106			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.318C>A	CCDS7554.1																																																																																				0.507	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		126	474	1	0	6.59513e-52	1	8.19535e-52	126	474				
MYO15A	51168	broad.mit.edu	37	17	18044339	18044339	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18044339G>T	ENST00000205890.5	+	22	5751	c.5413G>T	c.(5413-5415)Ggt>Tgt	p.G1805C	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1805	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACAGGAGCCAGGTCTCTTTGA	0.542											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(5413-5415)Ggt>Tgt		myosin XVA							63.0	66.0	65.0					17																	18044339		1960	4153	6113	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18044339G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5413G>T	17.37:g.18044339G>T	ENSP00000205890:p.Gly1805Cys		OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	MYO15A_ENST00000412324.1_3'UTR	p.G1805C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			22	5751	+	all_neural(463;0.228)		1805			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.5413G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165221	0.21538	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.78	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.92928	0.7750	M	0.86953	2.85	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	D	0.92453	0.5971	9	0.48119	T	0.1	.	13.9293	0.63983	0.1321:0.0:0.8679:0.0	.	1805	Q9UKN7	MYO15_HUMAN	C	1805	ENSP00000205890:G1805C	ENSP00000205890:G1805C	G	+	1	0	MYO15A	17985064	1.000000	0.71417	0.808000	0.32385	0.121000	0.20230	3.994000	0.56994	0.803000	0.34113	-1.134000	0.01955	GGT		0.542	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		36	159	1	0	1.26612e-14	1	1.37737e-14	36	159				
KANSL1	284058	broad.mit.edu	37	17	44110540	44110540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44110540C>T	ENST00000262419.6	-	13	3213	c.2743G>A	c.(2743-2745)Gca>Aca	p.A915T	KANSL1_ENST00000393476.3_Missense_Mutation_p.A209T|KANSL1_ENST00000574590.1_Missense_Mutation_p.A915T|KANSL1_ENST00000432791.1_Missense_Mutation_p.A915T|RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000572904.1_Missense_Mutation_p.A915T|KANSL1_ENST00000575318.1_Missense_Mutation_p.A851T	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	915	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GCGAAGGCTGCGTCGGATAGG	0.592																																						ENST00000262419.6																			0											c.(2743-2745)Gca>Aca		KAT8 regulatory NSL complex subunit 1							63.0	62.0	62.0					17																	44110540		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44110540C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2743G>A	17.37:g.44110540C>T	ENSP00000262419:p.Ala915Thr					KANSL1_ENST00000393476.3_Missense_Mutation_p.A209T|KANSL1_ENST00000432791.1_Missense_Mutation_p.A915T|KANSL1_ENST00000575318.1_Missense_Mutation_p.A851T|KANSL1_ENST00000574590.1_Missense_Mutation_p.A915T|KANSL1_ENST00000572904.1_Missense_Mutation_p.A915T	p.A915T	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			13	3213	-			915					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2743G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504783	0.64410	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.50813	0.73;0.73;0.73	6.17	6.17	0.99709	.	0.048575	0.85682	D	0.000000	T	0.38188	0.1031	L	0.34521	1.04	0.49051	D	0.999743	P;P;P;P	0.52170	0.951;0.588;0.588;0.931	B;B;B;B	0.42062	0.371;0.216;0.294;0.374	T	0.08146	-1.0736	10	0.22109	T	0.4	-11.3671	15.1108	0.72355	0.142:0.858:0.0:0.0	.	183;246;915;915	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	T	915;915;209	ENSP00000262419:A915T;ENSP00000387393:A915T;ENSP00000377117:A209T	ENSP00000262419:A915T	A	-	1	0	KIAA1267	41466387	0.998000	0.40836	0.996000	0.52242	0.234000	0.25298	3.888000	0.56204	2.941000	0.99782	0.655000	0.94253	GCA		0.592	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		15	45	0	0	0	1	0	15	45				
ZNF749	388567	broad.mit.edu	37	19	57954793	57954793	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954793C>A	ENST00000334181.4	+	3	527	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGCTCAATTCTGAAGGACAT	0.512																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(277-279)Ctg>Atg		zinc finger protein 749							95.0	82.0	87.0					19																	57954793		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57954793C>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.277C>A	19.37:g.57954793C>A	ENSP00000333980:p.Leu93Met					AC004076.9_ENST00000596831.1_Intron	p.L93M	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	527	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	93			KRAB.			Missense_Mutation	SNP	ENST00000334181.4	37	c.277C>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523956	0.27299	.	.	ENSG00000186230	ENST00000334181;ENST00000415248	T;T	0.61274	3.17;0.12	1.87	-2.06	0.07298	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.59932	0.2230	M	0.61703	1.905	0.09310	N	1	D	0.56287	0.975	P	0.58013	0.831	T	0.50980	-0.8763	9	0.46703	T	0.11	.	2.2326	0.04000	0.2506:0.3665:0.0:0.3828	.	93	O43361	ZN749_HUMAN	M	93;6	ENSP00000333980:L93M;ENSP00000397745:L6M	ENSP00000333980:L93M	L	+	1	2	ZNF749	62646605	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.426000	0.01027	-0.683000	0.05190	0.313000	0.20887	CTG		0.512	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		56	208	1	0	5.82388e-19	1	6.47979e-19	56	208				
ZNHIT6	54680	broad.mit.edu	37	1	86167924	86167924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86167924C>T	ENST00000370574.3	-	5	1068	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R273H			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	312					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCTCCGGGCACGATTTTTCAT	0.294																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(817-819)cGt>cAt		zinc finger, HIT-type containing 6							61.0	60.0	61.0					1																	86167924		2202	4299	6501	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86167924C>T	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.935G>A	1.37:g.86167924C>T	ENSP00000359606:p.Arg312His					ZNHIT6_ENST00000370574.3_Missense_Mutation_p.R312H	p.R273H	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			6	966	-			312					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.818G>A	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793802	0.90453	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.48201	0.86;0.82	5.37	5.37	0.77165	.	0.192613	0.44483	D	0.000459	T	0.57946	0.2088	L	0.60455	1.87	0.45607	D	0.998545	D;D	0.76494	0.999;0.999	P;P	0.62184	0.793;0.899	T	0.59894	-0.7368	10	0.66056	D	0.02	-12.6765	19.0665	0.93113	0.0:1.0:0.0:0.0	.	273;312	B4DP13;Q9NWK9	.;BCD1_HUMAN	H	273;312	ENSP00000414344:R273H;ENSP00000359606:R312H	ENSP00000359606:R312H	R	-	2	0	ZNHIT6	85940512	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.660000	0.54496	2.666000	0.90696	0.555000	0.69702	CGT		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		16	161	0	0	0	1	0	16	161				
FAM161A	84140	broad.mit.edu	37	2	62067069	62067069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067069G>A	ENST00000405894.3	-	3	1171	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	FAM161A_ENST00000404929.1_Missense_Mutation_p.A357V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	357					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGGGTCTGGCTTTAAATCG	0.418																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1069-1071)gCc>gTc		family with sequence similarity 161, member A							121.0	117.0	118.0					2																	62067069		1863	4109	5972	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62067069G>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1070C>T	2.37:g.62067069G>A	ENSP00000385893:p.Ala357Val					FAM161A_ENST00000405894.3_Missense_Mutation_p.A357V	p.A357V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1081	-			357					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.1070C>T	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	34	5.304321	0.95601	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	.	0.050451	0.85682	D	0.000000	T	0.70518	0.3233	M	0.85373	2.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74469	-0.3655	10	0.72032	D	0.01	-14.9161	19.3967	0.94610	0.0:0.0:1.0:0.0	.	357;357	Q3B820;Q3B820-3	F161A_HUMAN;.	V	357	ENSP00000385158:A357V;ENSP00000385893:A357V	ENSP00000385158:A357V	A	-	2	0	FAM161A	61920573	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.973000	0.93428	2.665000	0.90641	0.655000	0.94253	GCC		0.418	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		70	768	0	0	0	1	0	70	768				
RNF213	57674	broad.mit.edu	37	17	78346393	78346393	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78346393T>G	ENST00000582970.1	+	48	12753	c.12610T>G	c.(12610-12612)Ttc>Gtc	p.F4204V	RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4204					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAAGGTCGTTTCCTTAAGGC	0.517																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(12610-12612)Ttc>Gtc		ring finger protein 213							42.0	38.0	39.0					17																	78346393		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78346393T>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12610T>G	17.37:g.78346393T>G	ENSP00000464087:p.Phe4204Val					CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V	p.F4204V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		48	12753	+	all_neural(118;0.0538)		238					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.12610T>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656634	0.47467	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.29	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.81239	2.535	0.35309	D	0.783728	D;D	0.89917	0.999;1.0	D;D	0.85130	0.927;0.997	T	0.62817	-0.6774	10	0.46703	T	0.11	.	11.0367	0.47804	0.0:0.0737:0.0:0.9263	.	4253;2277	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4204;4253;2277	ENSP00000338218:F2277V	ENSP00000338218:F2277V	F	+	1	0	RNF213	75960988	1.000000	0.71417	0.644000	0.29465	0.007000	0.05969	5.229000	0.65316	0.831000	0.34780	0.533000	0.62120	TTC		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		16	127	0	0	0	1	0	16	127				
TRAP1	10131	broad.mit.edu	37	16	3740954	3740954	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3740954C>A	ENST00000246957.5	-	2	209	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	41					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CCCAACTGGGCTGTGGTCCTC	0.527											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(121-123)Gcc>Tcc		TNF receptor-associated protein 1							70.0	65.0	67.0					16																	3740954		2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3740954C>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.121G>T	16.37:g.3740954C>A	ENSP00000246957:p.Ala41Ser		OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	613	TRAP1_ENST00000538171.1_Intron	p.A41S	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			2	209	-		Ovarian(90;0.0261)	41					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.121G>T	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129480	0.56721	.	.	ENSG00000126602	ENST00000246957	T	0.14022	2.54	5.61	3.63	0.41609	.	1.396980	0.04856	N	0.443279	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31916	-0.9926	10	0.36615	T	0.2	-15.4687	5.0127	0.14321	0.1384:0.5165:0.2688:0.0764	.	41	Q12931	TRAP1_HUMAN	S	41	ENSP00000246957:A41S	ENSP00000246957:A41S	A	-	1	0	TRAP1	3680955	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.159000	0.10056	0.703000	0.31848	0.655000	0.94253	GCC		0.527	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		48	224	1	0	5.85753e-14	1	6.34509e-14	48	224				
NEMF	9147	broad.mit.edu	37	14	50269171	50269171	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50269171C>A	ENST00000298310.5	-	22	2544	c.2095G>T	c.(2095-2097)Gat>Tat	p.D699Y	NEMF_ENST00000546046.1_Splice_Site_p.D678Y|NEMF_ENST00000545773.1_Splice_Site_p.D657Y|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	699					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TATAAACTACCTAATTGTTCC	0.348																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.e22+1		nuclear export mediator factor							101.0	93.0	96.0					14																	50269171		2203	4300	6503	SO:0001630	splice_region_variant	9147					cytoplasm|nucleus		g.chr14:50269171C>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2095+1G>T	14.37:g.50269171C>A						NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Splice_Site_p.D657_splice|NEMF_ENST00000546046.1_Splice_Site_p.D678_splice	p.D699_splice			O60524	NEMF_HUMAN			22	2544	-			699					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Splice_Site	SNP	ENST00000298310.5	37	c.2095_splice	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958264	0.53400	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.50548	0.76;0.76;0.74;0.76	5.27	5.27	0.74061	.	0.330083	0.28214	N	0.016170	T	0.43033	0.1229	N	0.08118	0	0.80722	D	1	P;P;P;P	0.45176	0.824;0.759;0.852;0.828	P;P;P;P	0.53102	0.521;0.51;0.718;0.514	T	0.38329	-0.9666	9	.	.	.	-13.4972	18.5418	0.91031	0.0:1.0:0.0:0.0	.	678;674;657;699	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	Y	699;657;678;471;657	ENSP00000298310:D699Y;ENSP00000438309:D657Y;ENSP00000441016:D678Y;ENSP00000452540:D657Y	.	D	-	1	0	NEMF	49338921	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	6.370000	0.73114	2.487000	0.83934	0.579000	0.79373	GAT		0.348	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	Missense_Mutation	5	193	1	0	0.014758	1	0.0148251	5	193				
PROZ	8858	broad.mit.edu	37	13	113813025	113813025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113813025C>T	ENST00000375547.2	+	1	58	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PROZ_ENST00000342783.4_Silent_p.L17L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	17					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCCTCGCCCTCCATCGTGTGG	0.602																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(49-51)ctC>ctT		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						123.0	77.0	93.0					13																	113813025		2203	4300	6503	SO:0001819	synonymous_variant	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113813025C>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.51C>T	13.37:g.113813025C>T						PROZ_ENST00000375547.2_Silent_p.L17L	p.L17L	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		1	58	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	17					A6NMB4|Q15213|Q5JVF5|Q5JVF6	Silent	SNP	ENST00000375547.2	37	c.51C>T	CCDS9531.1																																																																																				0.602	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		10	52	0	0	0	1	0	10	52				
CHMP2B	25978	broad.mit.edu	37	3	87294981	87294981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87294981G>T	ENST00000263780.4	+	3	482	c.244G>T	c.(244-246)Gtt>Ttt	p.V82F	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	82					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAGTTCAAAAGTTACTTCTAT	0.368																																						ENST00000263780.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12						c.(244-246)Gtt>Ttt		charged multivesicular body protein 2B							86.0	90.0	89.0					3																	87294981		2203	4300	6503	SO:0001583	missense	25978				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	g.chr3:87294981G>T	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.244G>T	3.37:g.87294981G>T	ENSP00000263780:p.Val82Phe					CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F|CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000472024.1_3'UTR	p.V82F	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	482	+	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	82					B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	c.244G>T	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906911	0.92107	.	.	ENSG00000083937	ENST00000471660;ENST00000263780	T;T	0.73363	-0.74;-0.74	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.71581	2.175	0.80722	D	1	D;D	0.58970	0.984;0.984	P;D	0.63877	0.903;0.919	D	0.86798	0.1990	10	0.72032	D	0.01	-5.8634	18.3121	0.90204	0.0:0.0:1.0:0.0	.	41;82	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	F	41;82	ENSP00000419998:V41F;ENSP00000263780:V82F	ENSP00000263780:V82F	V	+	1	0	CHMP2B	87377671	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.471000	0.97696	2.297000	0.77311	0.655000	0.94253	GTT		0.368	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		48	211	1	0	2.13384e-23	1	2.42615e-23	48	211				
PXDN	7837	broad.mit.edu	37	2	1651965	1651965	+	Missense_Mutation	SNP	T	T	G	rs13398588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1651965T>G	ENST00000252804.4	-	17	3637	c.3587A>C	c.(3586-3588)gAg>gCg	p.E1196A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1196					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCCCGGATCTCAGGGTTTTT	0.527																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3586-3588)gAg>gCg		peroxidasin homolog (Drosophila)							109.0	119.0	116.0					2																	1651965		1977	4154	6131	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1651965T>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3587A>C	2.37:g.1651965T>G	ENSP00000252804:p.Glu1196Ala						p.E1196A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3637	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1196					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3587A>C	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	8.883	0.952195	0.18431	.	.	ENSG00000130508	ENST00000252804	T	0.74632	-0.86	5.48	2.98	0.34508	.	0.670381	0.15817	N	0.243172	T	0.67618	0.2912	L	0.48877	1.53	0.20563	N	0.999887	B	0.19445	0.036	B	0.32928	0.155	T	0.55503	-0.8131	10	0.26408	T	0.33	-25.6379	8.3858	0.32499	0.1346:0.0:0.1331:0.7322	.	1196	Q92626	PXDN_HUMAN	A	1196	ENSP00000252804:E1196A	ENSP00000252804:E1196A	E	-	2	0	PXDN	1630972	0.002000	0.14202	0.851000	0.33527	0.976000	0.68499	0.660000	0.25009	0.332000	0.23536	0.529000	0.55759	GAG		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		153	887	0	0	0	1	0	153	887				
TRO	7216	broad.mit.edu	37	X	54955207	54955207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54955207G>A	ENST00000173898.7	+	12	2162	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	TRO_ENST00000420798.2_Missense_Mutation_p.D215N|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	684					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ggATGACATGGATATCGACTG	0.537																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2050-2052)Gat>Aat		trophinin							54.0	58.0	57.0					X																	54955207		2106	4238	6344	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955207G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2050G>A	X.37:g.54955207G>A	ENSP00000173898:p.Asp684Asn					TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.D215N	p.D684N	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2162	+			684					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2050G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164907	0.38217	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.10192	3.49;2.9;3.2	2.95	2.95	0.34219	.	.	.	.	.	T	0.13457	0.0326	L	0.36672	1.1	0.31987	N	0.60514	D;D	0.65815	0.995;0.995	P;P	0.53185	0.72;0.72	T	0.10965	-1.0607	9	0.87932	D	0	.	5.2406	0.15469	0.1614:0.0:0.8386:0.0	.	287;684	B1AKE9;Q12816	.;TROP_HUMAN	N	684;215;287	ENSP00000173898:D684N;ENSP00000405126:D215N;ENSP00000364181:D287N	ENSP00000173898:D684N	D	+	1	0	TRO	54971932	0.813000	0.29090	0.994000	0.49952	0.847000	0.48162	1.099000	0.31013	1.744000	0.51775	0.544000	0.68410	GAT		0.537	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		37	141	0	0	0	1	0	37	141				
OR4Q3	441669	broad.mit.edu	37	14	20215653	20215653	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20215653C>T	ENST00000331723.1	+	1	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTGGGAGCTGCAGCTATT	0.383																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(67-69)Ctg>Ttg		olfactory receptor, family 4, subfamily Q, member 3							156.0	158.0	157.0					14																	20215653		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215653C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.67C>T	14.37:g.20215653C>T							p.L23L	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	67	+	all_cancers(95;0.00108)		23					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.67C>T	CCDS32020.1																																																																																				0.383	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			89	649	0	0	0	1	0	89	649				
ABRA	137735	broad.mit.edu	37	8	107781820	107781820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781820G>T	ENST00000311955.3	-	1	653	c.599C>A	c.(598-600)gCt>gAt	p.A200D		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTCTCCTCAGCCTCTCCTCC	0.592																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(598-600)gCt>gAt		actin-binding Rho activating protein							181.0	183.0	182.0					8																	107781820		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107781820G>T	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.599C>A	8.37:g.107781820G>T	ENSP00000311436:p.Ala200Asp						p.A200D	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	653	-			200						Missense_Mutation	SNP	ENST00000311955.3	37	c.599C>A	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	9.322	1.058374	0.19987	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	3.08	0.35506	.	0.860392	0.10819	N	0.630735	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31503	-0.9941	9	0.11485	T	0.65	-23.9422	2.2899	0.04136	0.1473:0.1315:0.4506:0.2706	.	200	Q8N0Z2	ABRA_HUMAN	D	200	.	ENSP00000311436:A200D	A	-	2	0	ABRA	107850996	0.001000	0.12720	0.249000	0.24280	0.456000	0.32438	0.958000	0.29227	0.842000	0.35045	0.655000	0.94253	GCT		0.592	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		24	1245	1	0	2.4624e-09	1	2.59004e-09	24	1245				
EBF1	1879	broad.mit.edu	37	5	158223401	158223401	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158223401G>A	ENST00000313708.6	-	9	1143	c.861C>T	c.(859-861)ttC>ttT	p.F287F	EBF1_ENST00000380654.4_Silent_p.F256F|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.F279F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	287	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCCATCAAAGAAATTGTCCC	0.453			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(859-861)ttC>ttT		early B-cell factor 1							155.0	126.0	136.0					5																	158223401		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223401G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.861C>T	5.37:g.158223401G>A						EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.F279F|EBF1_ENST00000380654.4_Silent_p.F256F	p.F287F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1143	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	287			IPT/TIG.		Q8IW11	Silent	SNP	ENST00000313708.6	37	c.861C>T	CCDS4343.1																																																																																				0.453	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		80	306	0	0	0	1	0	80	306				
DNTT	1791	broad.mit.edu	37	10	98064324	98064324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064324G>A	ENST00000371174.2	+	1	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000419175.1_Missense_Mutation_p.A24T			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	24					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCCTTGATGGCCTCCTCTCC	0.577																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(70-72)Gcc>Acc		DNA nucleotidylexotransferase							49.0	55.0	53.0					10																	98064324		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98064324G>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.70G>A	10.37:g.98064324G>A	ENSP00000360216:p.Ala24Thr					RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.A24T	p.A24T	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	1	240	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	24					Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.70G>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408741	0.25378	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11712	2.75;2.75	5.76	0.955	0.19602	.	0.981743	0.08379	N	0.954821	T	0.11024	0.0269	M	0.66939	2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40117	-0.9580	10	0.25106	T	0.35	-4.0979	2.978	0.05943	0.0949:0.13:0.2973:0.4778	.	24;24	P04053-2;P04053	.;TDT_HUMAN	T	24	ENSP00000401169:A24T;ENSP00000360216:A24T	ENSP00000360216:A24T	A	+	1	0	DNTT	98054314	0.005000	0.15991	0.048000	0.18961	0.138000	0.21146	0.775000	0.26689	0.688000	0.31529	0.655000	0.94253	GCC		0.577	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		67	285	0	0	0	1	0	67	285				
DNAH10	196385	broad.mit.edu	37	12	124335466	124335466	+	Missense_Mutation	SNP	G	G	A	rs370827875		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124335466G>A	ENST00000409039.3	+	34	5805	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1927	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGACTCCCGCATGGGCATC	0.622																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5779-5781)cGc>cAc		dynein, axonemal, heavy chain 10		G	HIS/ARG	0,4282		0,0,2141	37.0	41.0	40.0		5780	5.5	0.0	12		40	1,8537		0,1,4268	no	missense	DNAH10	NM_207437.3	29	0,1,6409	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	1927/4472	124335466	1,12819	2141	4269	6410	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124335466G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5780G>A	12.37:g.124335466G>A	ENSP00000386770:p.Arg1927His						p.R1927H	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	34	5805	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1927			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5780G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950710	0.73787	0.0	1.17E-4	ENSG00000197653	ENST00000409039	T	0.39787	1.06	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.285831	0.29389	U	0.012288	T	0.49508	0.1561	N	0.14661	0.345	0.53688	D	0.99997	D	0.76494	0.999	D	0.68765	0.96	T	0.55872	-0.8072	10	0.56958	D	0.05	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1927	Q8IVF4	DYH10_HUMAN	H	1927	ENSP00000386770:R1927H	ENSP00000386770:R1927H	R	+	2	0	DNAH10	122901419	0.941000	0.31946	0.023000	0.16930	0.607000	0.37147	4.168000	0.58216	2.576000	0.86940	0.655000	0.94253	CGC		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			68	285	0	0	0	1	0	68	285				
CNTLN	54875	broad.mit.edu	37	9	17330786	17330786	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17330786A>C	ENST00000380647.3	+	9	1582	c.1498A>C	c.(1498-1500)Agt>Cgt	p.S500R	CNTLN_ENST00000262360.5_Missense_Mutation_p.S500R|CNTLN_ENST00000425824.1_Missense_Mutation_p.S500R			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	500					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CATCATGACAAGTGCTGAAGG	0.373																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1498-1500)Agt>Cgt		centlein, centrosomal protein							108.0	102.0	104.0					9																	17330786		1875	4096	5971	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17330786A>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1498A>C	9.37:g.17330786A>C	ENSP00000370021:p.Ser500Arg					CNTLN_ENST00000262360.5_Missense_Mutation_p.S500R|CNTLN_ENST00000425824.1_Missense_Mutation_p.S500R	p.S500R			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	9	1582	+			500					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1498A>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555123	0.27739	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.36157	1.27;1.27;1.27	2.82	1.6	0.23607	.	.	.	.	.	T	0.41811	0.1175	L	0.56769	1.78	0.09310	N	1	B;D;D	0.64830	0.112;0.994;0.994	B;P;P	0.56960	0.032;0.81;0.81	T	0.22800	-1.0206	9	0.20519	T	0.43	.	5.0658	0.14582	0.7361:0.0:0.0:0.2639	.	500;500;500	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	R	500	ENSP00000370021:S500R;ENSP00000392798:S500R;ENSP00000262360:S500R	ENSP00000262360:S500R	S	+	1	0	CNTLN	17320786	0.007000	0.16637	0.055000	0.19348	0.588000	0.36517	1.997000	0.40786	0.439000	0.26476	0.528000	0.53228	AGT		0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		13	491	0	0	0	1	0	13	491				
C3orf17	25871	broad.mit.edu	37	3	112736342	112736342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736342T>G	ENST00000314400.5	-	2	405	c.214A>C	c.(214-216)Aat>Cat	p.N72H	RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	72					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CTGTTGTGATTGCTGTAAAGG	0.468																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(214-216)Aat>Cat		chromosome 3 open reading frame 17							149.0	129.0	136.0					3																	112736342		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112736342T>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.214A>C	3.37:g.112736342T>G	ENSP00000320251:p.Asn72His					C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H	p.N72H	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			2	405	-			72					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.214A>C	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585739	0.28268	.	.	ENSG00000163608	ENST00000314400;ENST00000383675	T;T	0.47177	0.85;0.85	5.61	3.1	0.35709	.	0.359775	0.32287	N	0.006308	T	0.36193	0.0958	L	0.54323	1.7	0.80722	D	1	P;B	0.35174	0.488;0.197	B;B	0.35240	0.198;0.058	T	0.07347	-1.0777	10	0.15066	T	0.55	-15.9227	6.1807	0.20470	0.1489:0.0:0.353:0.4982	.	72;72	Q6NW34-2;Q6NW34	.;CC017_HUMAN	H	72	ENSP00000320251:N72H;ENSP00000373173:N72H	ENSP00000320251:N72H	N	-	1	0	C3orf17	114219032	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.705000	0.37867	0.946000	0.37632	0.533000	0.62120	AAT		0.468	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		83	326	0	0	0	1	0	83	326				
VPS8	23355	broad.mit.edu	37	3	184766325	184766325	+	Missense_Mutation	SNP	G	G	A	rs16859527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184766325G>A	ENST00000437079.3	+	47	4286	c.4115G>A	c.(4114-4116)cGt>cAt	p.R1372H	VPS8_ENST00000436792.2_Missense_Mutation_p.R1370H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1372H|VPS8_ENST00000446204.2_Missense_Mutation_p.R1280H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1372			R -> H (in dbSNP:rs16859527).				zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CAGCTTTGCCGTCTCTACCGA	0.418													G|||	58	0.0115815	0.0	0.0	5008	,	,		22458	0.0565		0.0	False		,,,				2504	0.001					ENST00000437079.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(4114-4116)cGt>cAt		vacuolar protein sorting 8 homolog (S. cerevisiae)							170.0	163.0	165.0					3																	184766325		1854	4107	5961	SO:0001583	missense	23355						zinc ion binding	g.chr3:184766325G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.4115G>A	3.37:g.184766325G>A	ENSP00000397879:p.Arg1372His					VPS8_ENST00000436792.2_Missense_Mutation_p.R1370H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1372H|VPS8_ENST00000446204.2_Missense_Mutation_p.R1280H	p.R1372H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		47	4286	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1372		R -> H (in dbSNP:rs16859527).			A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.4115G>A	CCDS46971.1	17	0.007783882783882784	0	0.0	0	0.0	17	0.02972027972027972	0	0.0	G	14.82	2.650495	0.47362	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	6.08	1.24	0.21308	.	0.363435	0.32015	N	0.006719	T	0.04634	0.0126	L	0.40543	1.245	0.31810	N	0.627244	P;B;P	0.38440	0.631;0.346;0.56	B;B;B	0.33690	0.095;0.168;0.096	T	0.08269	-1.0730	10	0.45353	T	0.12	-26.1371	8.6392	0.33968	0.3793:0.0:0.6207:0.0	rs16859527;rs52799081;rs16859527	1372;1280;1370	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	H	1372;1372;1370;1280	ENSP00000287546:R1372H;ENSP00000397879:R1372H;ENSP00000404704:R1370H;ENSP00000405483:R1280H	ENSP00000287546:R1372H	R	+	2	0	VPS8	186249019	0.608000	0.26966	0.388000	0.26195	0.997000	0.91878	0.587000	0.23909	-0.049000	0.13379	0.655000	0.94253	CGT		0.418	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		89	395	0	0	0	1	0	89	395				
ATM	472	broad.mit.edu	37	11	108198454	108198454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108198454C>A	ENST00000452508.2	+	49	7247	c.7058C>A	c.(7057-7059)cCt>cAt	p.P2353H	ATM_ENST00000278616.4_Missense_Mutation_p.P2353H|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2353	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTAGAAAATCCTGCGGTCATC	0.388			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7057-7059)cCt>cAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							88.0	81.0	83.0					11																	108198454		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108198454C>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7058C>A	11.37:g.108198454C>A	ENSP00000388058:p.Pro2353His	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.P2353H|C11orf65_ENST00000525729.1_Intron	p.P2353H	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	48	7443	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2353			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7058C>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915849	0.92178	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70986	-0.53;-0.53	5.3	5.3	0.74995	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86843	0.2018	10	0.87932	D	0	.	18.9553	0.92657	0.0:1.0:0.0:0.0	.	2353	Q13315	ATM_HUMAN	H	2353	ENSP00000278616:P2353H;ENSP00000388058:P2353H	ENSP00000278616:P2353H	P	+	2	0	ATM	107703664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.474000	0.83562	0.563000	0.77884	CCT		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		36	173	1	0	3.93418e-24	1	4.48831e-24	36	173				
FLT3	2322	broad.mit.edu	37	13	28602336	28602336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28602336G>T	ENST00000241453.7	-	16	2113	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	FLT3_ENST00000380982.4_Missense_Mutation_p.L678M|FLT3_ENST00000537084.1_Missense_Mutation_p.L678M	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACGCCCCCAGCAGGTTCACA	0.473			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2032-2034)Ctg>Atg		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						97.0	80.0	85.0					13																	28602336		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28602336G>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2032C>A	13.37:g.28602336G>T	ENSP00000241453:p.Leu678Met					FLT3_ENST00000537084.1_Missense_Mutation_p.L678M|FLT3_ENST00000241453.7_Missense_Mutation_p.L678M	p.L678M			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	16	2113	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	678			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2032C>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141517	0.57044	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.90563	-2.69;-2.69;-2.69	5.71	3.66	0.41972	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.92485	0.7614	L	0.45285	1.41	0.50171	D	0.999856	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.92867	0.6311	10	0.87932	D	0	.	12.2545	0.54617	0.2053:0.0:0.7947:0.0	.	678;678	P36888-2;P36888	.;FLT3_HUMAN	M	678	ENSP00000241453:L678M;ENSP00000370369:L678M;ENSP00000438139:L678M	ENSP00000241453:L678M	L	-	1	2	FLT3	27500336	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	2.265000	0.43311	1.410000	0.46936	0.555000	0.69702	CTG		0.473	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			44	163	1	0	1.61004e-24	1	1.84098e-24	44	163				
STXBP2	6813	broad.mit.edu	37	19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707143G>A	ENST00000221283.5	+	9	749	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M|STXBP2_ENST00000441779.2_Missense_Mutation_p.V251M	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	240					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(751-753)Gtg>Atg		syntaxin binding protein 2							65.0	66.0	66.0					19																	7707143		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707143G>A	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.718G>A	19.37:g.7707143G>A	ENSP00000221283:p.Val240Met					STXBP2_ENST00000221283.5_Missense_Mutation_p.V240M|STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M	p.V251M	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			9	788	+			240					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.751G>A	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415727	0.42817	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79845	-1.31;-1.31;-1.31	4.54	1.23	0.21249	.	0.085246	0.51477	D	0.000093	D	0.82701	0.5094	L	0.49455	1.56	0.39014	D	0.959618	D;P;D;D	0.65815	0.995;0.928;0.994;0.995	D;P;P;D	0.64144	0.922;0.862;0.872;0.922	T	0.81125	-0.1075	10	0.87932	D	0	-13.0072	8.0099	0.30347	0.2786:0.0:0.7214:0.0	.	251;206;237;240	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	M	240;237;251;240	ENSP00000221283:V240M;ENSP00000409471:V237M;ENSP00000413606:V251M	ENSP00000221283:V240M	V	+	1	0	STXBP2	7613143	1.000000	0.71417	0.093000	0.20910	0.542000	0.35054	3.277000	0.51654	0.052000	0.16007	-0.216000	0.12614	GTG		0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		11	300	0	0	0	1	0	11	300				
ZNF90	7643	broad.mit.edu	37	19	20215098	20215098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20215098G>A	ENST00000418063.2	+	2	166	c.54G>A	c.(52-54)tgG>tgA	p.W18*	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGGAGGAGTGGCATTGCCTGG	0.428																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(52-54)tgG>tgA		zinc finger protein 90																																				SO:0001587	stop_gained	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20215098G>A	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.54G>A	19.37:g.20215098G>A	ENSP00000410466:p.Trp18*					ZNF90_ENST00000474284.1_Intron	p.W18*	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			2	166	+			18			KRAB.		B9EH87	Nonsense_Mutation	SNP	ENST00000418063.2	37	c.54G>A	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188450	0.38609	.	.	ENSG00000213988	ENST00000418063	.	.	.	1.11	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6708	0.28457	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000410466:W18X	W	+	3	0	ZNF90	20076098	0.905000	0.30787	0.484000	0.27391	0.406000	0.30931	1.899000	0.39818	0.534000	0.28695	0.184000	0.17185	TGG		0.428	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		112	519	0	0	0	1	0	112	519				
BCAM	4059	broad.mit.edu	37	19	45322676	45322676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45322676G>A	ENST00000270233.6	+	12	1569	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	BCAM_ENST00000589651.1_Missense_Mutation_p.S516N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	516	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCGCCCTGAGCCGCGATGGC	0.652																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1546-1548)aGc>aAc		basal cell adhesion molecule (Lutheran blood group)							78.0	85.0	83.0					19																	45322676		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322676G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1547G>A	19.37:g.45322676G>A	ENSP00000270233:p.Ser516Asn					BCAM_ENST00000270233.6_Missense_Mutation_p.S516N	p.S516N			P50895	BCAM_HUMAN			12	1591	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	516			Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1547G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.302032	0.40694	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.14266	2.52;2.52	4.27	3.1	0.35709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12603	0.0306	L	0.37630	1.12	0.23727	N	0.997001	P	0.37914	0.611	B	0.42882	0.401	T	0.14282	-1.0478	9	0.13853	T	0.58	-21.7405	9.1554	0.36990	0.0:0.2943:0.7057:0.0	.	516	P50895	BCAM_HUMAN	N	516	ENSP00000270233:S516N;ENSP00000375817:S516N	ENSP00000270233:S516N	S	+	2	0	BCAM	50014516	0.979000	0.34478	0.998000	0.56505	0.778000	0.44026	1.369000	0.34227	2.117000	0.64856	0.538000	0.68166	AGC		0.652	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		128	513	0	0	0	1	0	128	513				
MUC5B	727897	broad.mit.edu	37	11	1264986	1264986	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1264986C>A	ENST00000529681.1	+	31	6934	c.6876C>A	c.(6874-6876)cgC>cgA	p.R2292R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.R2295R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2292	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAAGACCCGCACCTCGACCC	0.682																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6883-6885)cgC>cgA		mucin 5B, oligomeric mucus/gel-forming							57.0	87.0	77.0					11																	1264986		2090	4200	6290	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264986C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6876C>A	11.37:g.1264986C>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.R2292R	p.R2295R			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6943	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2292			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.6885C>A	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		86	1049	1	0	5.04879e-28	1	5.86081e-28	86	1049				
TNKS	8658	broad.mit.edu	37	8	9623249	9623249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623249A>G	ENST00000310430.6	+	24	3521	c.3495A>G	c.(3493-3495)cgA>cgG	p.R1165R	TNKS_ENST00000518281.1_Silent_p.R928R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1165	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCTGCCACCGACAGAAGGAAG	0.463																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3493-3495)cgA>cgG		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							121.0	106.0	111.0					8																	9623249		2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9623249A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3495A>G	8.37:g.9623249A>G						TNKS_ENST00000518281.1_Silent_p.R928R	p.R1165R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	24	3521	+			1165			PARP catalytic.		O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.3495A>G	CCDS5974.1																																																																																				0.463	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		44	265	0	0	0	1	0	44	265				
HOXD8	3234	broad.mit.edu	37	2	176995386	176995386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176995386G>A	ENST00000313173.4	+	1	919	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	HOXD8_ENST00000450510.2_Missense_Mutation_p.G98R|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000548663.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	98					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCACCCCGGCGGGGGCAGCCC	0.796																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(292-294)Ggg>Agg		homeobox D8							13.0	17.0	16.0					2																	176995386		1566	3366	4932	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995386G>A		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.292G>A	2.37:g.176995386G>A	ENSP00000315949:p.Gly98Arg					HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000450510.2_Missense_Mutation_p.G98R	p.G98R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	919	+			98					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.292G>A	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925318	0.52759	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	D;D;D	0.91631	-2.88;-2.76;-2.76	3.8	2.91	0.33838	.	0.227351	0.28841	N	0.013975	T	0.80518	0.4638	N	0.08118	0	0.27208	N	0.959996	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.68334	-0.5436	10	0.30078	T	0.28	.	8.0588	0.30621	0.2098:0.0:0.7902:0.0	.	98;98	Q8IXZ1;P13378	.;HXD8_HUMAN	R	98	ENSP00000315949:G98R;ENSP00000437431:G98R;ENSP00000409026:G98R	ENSP00000315949:G98R	G	+	1	0	HOXD8	176703632	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.658000	0.37376	0.729000	0.32403	0.442000	0.29010	GGG		0.796	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			7	333	0	0	0	1	0	7	333				
TNNT2	7139	broad.mit.edu	37	1	201337290	201337290	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201337290C>A	ENST00000509001.1	-	5	419	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	TNNT2_ENST00000367315.2_Splice_Site_p.E45*|TNNT2_ENST00000360372.4_Splice_Site_p.E40*|TNNT2_ENST00000421663.2_Splice_Site_p.E47*|TNNT2_ENST00000236918.7_Splice_Site_p.E50*|TNNT2_ENST00000367320.2_Splice_Site_p.D55Y|TNNT2_ENST00000367317.4_Splice_Site_p.E45*|TNNT2_ENST00000367322.1_Splice_Site_p.E45*|TNNT2_ENST00000367318.5_Splice_Site_p.E45*|TNNT2_ENST00000458432.2_Splice_Site_p.E57*	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	0					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						AGAGACTTACCTTCTGCCCTG	0.597																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.e5+1		troponin T type 2 (cardiac)							104.0	78.0	87.0					1																	201337290		2203	4300	6503	SO:0001630	splice_region_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201337290C>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.133+1G>T	1.37:g.201337290C>A						TNNT2_ENST00000367315.2_Splice_Site_p.E45_splice|TNNT2_ENST00000367317.4_Splice_Site_p.E45_splice|TNNT2_ENST00000367318.5_Splice_Site_p.E45_splice|TNNT2_ENST00000367320.2_Splice_Site_p.D55_splice|TNNT2_ENST00000367322.1_Splice_Site_p.E45_splice|TNNT2_ENST00000360372.4_Splice_Site_p.E40_splice|TNNT2_ENST00000236918.7_Splice_Site_p.E50_splice|TNNT2_ENST00000421663.2_Splice_Site_p.E47_splice|TNNT2_ENST00000458432.2_Splice_Site_p.E57_splice	p.E45_splice	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			5	419	-			55					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Splice_Site	SNP	ENST00000509001.1	37	c.133_splice	CCDS30969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.94|19.94	3.919408|3.919408	0.73098|0.73098	.|.	.|.	ENSG00000118194|ENSG00000118194	ENST00000357848;ENST00000367320;ENST00000412633|ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165	D;D|.	0.99727|.	-6.55;-6.55|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	.|0.305164	.|0.25219	.|N	.|0.032250	T|.	0.71169|.	0.3308|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	P|.	0.35656|.	0.514|.	B|.	0.41332|.	0.354|.	T|.	0.74780|.	-0.3549|.	6|.	.|.	.|.	.|.	-4.8104|-4.8104	16.1679|16.1679	0.81785|0.81785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	55|.	P45379-3|.	.|.	Y|X	42;55;45|45;45;57;47;50;45;45;40;45;40;55;50	ENSP00000356289:D55Y;ENSP00000408731:D45Y|.	.|.	D|E	-|-	1|1	0|0	TNNT2|TNNT2	199603913|199603913	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.172000|0.172000	0.22775|0.22775	3.582000|3.582000	0.53921|0.53921	2.436000|2.436000	0.82500|0.82500	0.561000|0.561000	0.74099|0.74099	GAT|GAA		0.597	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364	Nonsense_Mutation	79	374	1	0	1.26373e-49	1	1.56379e-49	79	374				
TRAPPC8	22878	broad.mit.edu	37	18	29511465	29511465	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29511465T>G	ENST00000283351.4	-	2	514	c.179A>C	c.(178-180)aAt>aCt	p.N60T	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.N60T|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.N6T|TRAPPC8_ENST00000584876.1_5'UTR	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	60					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGAAGTTGATTATTAGGATC	0.343																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(178-180)aAt>aCt		trafficking protein particle complex 8							102.0	106.0	104.0					18																	29511465		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29511465T>G	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.179A>C	18.37:g.29511465T>G	ENSP00000283351:p.Asn60Thr					TRAPPC8_ENST00000582539.1_Missense_Mutation_p.N6T|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.N60T	p.N60T	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			2	514	-			60					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.179A>C	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454065	0.43634	.	.	ENSG00000153339	ENST00000283351	T	0.08720	3.06	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.42245	1.32	0.58432	D	0.999994	P;D	0.65815	0.733;0.995	B;D	0.66196	0.316;0.942	T	0.00677	-1.1614	10	0.33141	T	0.24	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	60;60	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	T	60	ENSP00000283351:N60T	ENSP00000283351:N60T	N	-	2	0	TRAPPC8	27765463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.957000	0.76019	2.289000	0.77006	0.482000	0.46254	AAT		0.343	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		83	396	0	0	0	1	0	83	396				
VWF	7450	broad.mit.edu	37	12	6125267	6125267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6125267C>T	ENST00000261405.5	-	31	5697	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1815	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTGGACCTGGCGGCATCAGCT	0.522																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5443-5445)Gcc>Acc		von Willebrand factor	Antihemophilic Factor(DB00025)						42.0	40.0	41.0					12																	6125267		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125267C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5443G>A	12.37:g.6125267C>T	ENSP00000261405:p.Ala1815Thr						p.A1815T	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			31	5697	-			1815			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5443G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.041065	0.75732	.	.	ENSG00000110799	ENST00000261405	T	0.80304	-1.36	5.11	5.11	0.69529	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000471	D	0.91274	0.7249	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92962	0.6390	10	0.87932	D	0	.	17.1259	0.86714	0.0:1.0:0.0:0.0	.	1815	P04275	VWF_HUMAN	T	1815	ENSP00000261405:A1815T	ENSP00000261405:A1815T	A	-	1	0	VWF	5995528	1.000000	0.71417	0.935000	0.37517	0.592000	0.36648	5.488000	0.66869	2.374000	0.81015	0.555000	0.69702	GCC		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		41	192	0	0	0	1	0	41	192				
DLGAP4	22839	broad.mit.edu	37	20	35068238	35068238	+	Silent	SNP	C	C	T	rs527846901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35068238C>T	ENST00000373907.2	+	4	1522	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	DLGAP4_ENST00000401952.2_Silent_p.S441S|DLGAP4_ENST00000339266.5_Silent_p.S441S|DLGAP4_ENST00000373913.3_Silent_p.S441S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	441					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.S441S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCCGTCAGCGACAGCCTCA	0.632											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373913.3																			1	Substitution - coding silent(1)	p.S441S(1)	endometrium(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1321-1323)agC>agT		discs, large (Drosophila) homolog-associated protein 4							76.0	60.0	66.0					20																	35068238		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35068238C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1323C>T	20.37:g.35068238C>T			OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	852	DLGAP4_ENST00000339266.5_Silent_p.S441S|DLGAP4_ENST00000373907.2_Silent_p.S441S|DLGAP4_ENST00000401952.2_Silent_p.S441S	p.S441S			Q9Y2H0	DLGP4_HUMAN			5	1803	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	441					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.1323C>T																																																																																					0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		25	156	0	0	0	1	0	25	156				
TRAF2	7186	broad.mit.edu	37	9	139802654	139802654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139802654C>T	ENST00000247668.2	+	5	551	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W|TRAF2_ENST00000359662.3_Missense_Mutation_p.R219W	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	167					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCGGCATTGCCGGGCACCCTG	0.682																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(655-657)Cgg>Tgg		TNF receptor-associated factor 2							18.0	20.0	19.0					9																	139802654		2203	4297	6500	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139802654C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.499C>T	9.37:g.139802654C>T	ENSP00000247668:p.Arg167Trp					TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000247668.2_Missense_Mutation_p.R167W	p.R219W			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	5	700	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	167	Missing (in Ref. 2; BAB70792).				A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.655C>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322261	0.60634	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.56275	0.47;1.49;1.48;1.49;1.23	4.01	-1.67	0.08238	Zinc finger, TRAF-type (1);	0.183072	0.45361	D	0.000375	T	0.59224	0.2178	L	0.53249	1.67	0.31336	N	0.684212	D;D;D;P	0.71674	0.985;0.985;0.998;0.952	D;D;D;P	0.66716	0.914;0.914;0.946;0.654	T	0.62666	-0.6806	10	0.87932	D	0	-16.9972	8.6683	0.34134	0.6951:0.1942:0.1108:0.0	.	156;167;219;167	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	W	167;167;167;191;167;219;219	ENSP00000405860:R167W;ENSP00000446414:R167W;ENSP00000406524:R167W;ENSP00000247668:R167W;ENSP00000352685:R219W	ENSP00000247668:R167W	R	+	1	2	TRAF2	138922475	0.983000	0.35010	0.180000	0.23079	0.754000	0.42855	0.787000	0.26858	-0.311000	0.08754	0.561000	0.74099	CGG		0.682	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		19	115	0	0	0	1	0	19	115				
BTAF1	9044	broad.mit.edu	37	10	93711250	93711250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93711250G>A	ENST00000265990.6	+	5	799	c.491G>A	c.(490-492)aGt>aAt	p.S164N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	164					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTGGAATGAGTACTGAAGAA	0.373																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(490-492)aGt>aAt		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							119.0	117.0	118.0					10																	93711250		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93711250G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.491G>A	10.37:g.93711250G>A	ENSP00000265990:p.Ser164Asn						p.S164N	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			5	799	+		Colorectal(252;0.0846)	164					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.491G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346355	0.11126	.	.	ENSG00000095564	ENST00000265990	D	0.89746	-2.56	5.13	3.98	0.46160	Armadillo-type fold (1);	0.094082	0.64402	D	0.000001	T	0.67373	0.2886	N	0.02751	-0.505	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64424	-0.6411	10	0.02654	T	1	0.5674	6.7274	0.23365	0.2115:0.0:0.7885:0.0	.	164	O14981	BTAF1_HUMAN	N	164	ENSP00000265990:S164N	ENSP00000265990:S164N	S	+	2	0	BTAF1	93701230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.401000	0.59716	2.563000	0.86464	0.591000	0.81541	AGT		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		59	493	0	0	0	1	0	59	493				
SNRNP35	11066	broad.mit.edu	37	12	123950548	123950548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123950548G>T	ENST00000526639.2	+	2	1040	c.461G>T	c.(460-462)aGa>aTa	p.R154I	SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I|SNRNP35_ENST00000527158.2_Intron	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	154	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGCAACTGAGATTTGGGGGA	0.517																																						ENST00000526639.2																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(460-462)aGa>aTa		small nuclear ribonucleoprotein 35kDa (U11/U12)							57.0	68.0	64.0					12																	123950548		2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950548G>T	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.461G>T	12.37:g.123950548G>T	ENSP00000432595:p.Arg154Ile					SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I	p.R154I	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	1040	+			154			Arg-rich.		A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.461G>T	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245181	0.95272	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.75477	-0.94;-0.94;-0.94	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86936	0.2076	10	0.87932	D	0	-15.4667	20.034	0.97549	0.0:0.0:1.0:0.0	.	159;154	Q16560-2;Q16560	.;U1SBP_HUMAN	I	154;159;154	ENSP00000432595:R154I;ENSP00000403310:R159I;ENSP00000340774:R154I	ENSP00000340774:R154I	R	+	2	0	SNRNP35	122516501	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.389000	0.97243	2.753000	0.94483	0.555000	0.69702	AGA		0.517	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		105	467	1	0	1.11883e-47	1	1.37812e-47	105	467				
CKM	1158	broad.mit.edu	37	19	45821219	45821219	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821219G>T	ENST00000221476.3	-	3	386	c.212C>A	c.(211-213)aCc>aAc	p.T71N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	71	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCAGCCCACGGTCATGATGAA	0.602																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(211-213)aCc>aAc		creatine kinase, muscle	Creatine(DB00148)						59.0	50.0	53.0					19																	45821219		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45821219G>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.212C>A	19.37:g.45821219G>T	ENSP00000221476:p.Thr71Asn						p.T71N	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	3	386	-		Ovarian(192;0.0336)|all_neural(266;0.112)	71			Phosphagen kinase N-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.212C>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941778	0.73557	.	.	ENSG00000104879	ENST00000221476	T	0.65549	-0.16	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.057508	0.64402	D	0.000001	T	0.72003	0.3407	M	0.89601	3.045	0.46678	D	0.999158	B	0.33198	0.401	B	0.38655	0.278	T	0.75886	-0.3159	10	0.45353	T	0.12	-32.8407	15.0581	0.71930	0.0:0.0:1.0:0.0	.	71	P06732	KCRM_HUMAN	N	71	ENSP00000221476:T71N	ENSP00000221476:T71N	T	-	2	0	CKM	50513059	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.215000	0.95146	2.418000	0.82041	0.650000	0.86243	ACC		0.602	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			29	174	1	0	8.16721e-17	1	8.9905e-17	29	174				
TRIP12	9320	broad.mit.edu	37	2	230636293	230636293	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230636293C>A	ENST00000283943.5	-	38	5703	c.5525G>T	c.(5524-5526)aGa>aTa	p.R1842I	TRIP12_ENST00000389045.3_Missense_Mutation_p.R1572I|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1842					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATCCATCTCTGAACGAATC	0.368																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5524-5526)aGa>aTa		thyroid hormone receptor interactor 12							84.0	83.0	83.0					2																	230636293		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230636293C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5525G>T	2.37:g.230636293C>A	ENSP00000283943:p.Arg1842Ile					TRIP12_ENST00000389045.3_Missense_Mutation_p.R1572I|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I	p.R1842I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	38	5703	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1842					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5525G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292648	0.95546	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.8;0.8;0.8	5.85	5.85	0.93711	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	L	0.41961	1.31	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.64715	-0.6342	10	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1572;1890;1842	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	1842;1572;1890	ENSP00000283943:R1842I;ENSP00000373697:R1572I;ENSP00000373696:R1890I	ENSP00000283943:R1842I	R	-	2	0	TRIP12	230344537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.767000	0.95098	0.563000	0.77884	AGA		0.368	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		59	251	1	0	3.28615e-30	1	3.85197e-30	59	251				
EDRF1	26098	broad.mit.edu	37	10	127417664	127417664	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127417664G>A	ENST00000356792.4	+	7	1117	c.885G>A	c.(883-885)gaG>gaA	p.E295E	C10orf137_ENST00000337623.3_Intron	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGACGGGGAGCACAGTCAGG	0.453																																						ENST00000356792.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(883-885)gaG>gaA		chromosome 10 open reading frame 137							13.0	13.0	13.0					10																	127417664		875	1988	2863	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127417664G>A																												ENST00000356792.4:c.885G>A	10.37:g.127417664G>A						C10orf137_ENST00000337623.3_Intron	p.E295E	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN			7	1117	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	295					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.885G>A	CCDS55733.1																																																																																				0.453	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			5	33	0	0	0	1	0	5	33				
USP34	9736	broad.mit.edu	37	2	61411915	61411915	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61411915C>A	ENST00000398571.2	-	0	11357				AHSA2_ENST00000394457.3_Missense_Mutation_p.L19M|AHSA2_ENST00000357022.2_Missense_Mutation_p.L19M|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Missense_Mutation_p.L19M	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAAAGAAAACTGAGTGGGAA	0.438																																						ENST00000394457.2																			0				breast(1)|lung(3)|prostate(1)	5						c.(55-57)Ctg>Atg		AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)							67.0	67.0	67.0					2																	61411915		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61411915C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265		2.37:g.61411915C>A						AHSA2_ENST00000357022.2_Missense_Mutation_p.L19M|AHSA2_ENST00000410073.1_Missense_Mutation_p.L19M|AHSA2_ENST00000489653.1_3'UTR	p.L19M	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		3	1798	+			181					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.55C>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.421398	0.25639	.	.	ENSG00000173209	ENST00000357022;ENST00000394457;ENST00000430934;ENST00000410073	.	.	.	5.24	2.43	0.29744	.	0.269718	0.26457	N	0.024269	T	0.38480	0.1042	M	0.72118	2.19	0.23304	N	0.997946	P	0.42123	0.771	B	0.41088	0.347	T	0.18935	-1.0321	9	0.25751	T	0.34	-12.7862	6.7819	0.23650	0.0:0.6981:0.1443:0.1576	.	181	Q719I0	AHSA2_HUMAN	M	19;19;182;19	.	ENSP00000349525:L19M	L	+	1	2	AHSA2	61265419	0.020000	0.18652	0.979000	0.43373	0.112000	0.19704	-0.159000	0.10056	0.293000	0.22520	0.563000	0.77884	CTG		0.438	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			91	293	1	0	7.47877e-49	1	9.23912e-49	91	293				
DLG3	1741	broad.mit.edu	37	X	69719830	69719830	+	Silent	SNP	C	C	T	rs535820581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69719830C>T	ENST00000374360.3	+	16	2309	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG3_ENST00000194900.4_Silent_p.I724I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Silent_p.I241I|DLG3_ENST00000374355.3_Silent_p.I387I	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	692	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ACAAGTTCATCGAGGCGGGCC	0.507													T|||	5	0.0013245	0.0	0.0	3775	,	,		13799	0.0		0.0	False		,,,				2504	0.0051					ENST00000194900.4																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(2170-2172)atC>atT		discs, large homolog 3 (Drosophila)							96.0	73.0	81.0					X																	69719830		2203	4300	6503	SO:0001819	synonymous_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69719830C>T	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2076C>T	X.37:g.69719830C>T						DLG3_ENST00000374360.3_Silent_p.I692I|DLG3_ENST00000374355.3_Silent_p.I387I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Silent_p.I241I	p.I724I			Q92796	DLG3_HUMAN			18	2513	+	Renal(35;0.156)		692			Guanylate kinase-like.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	37	c.2172C>T	CCDS14403.1																																																																																				0.507	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		37	118	0	0	0	1	0	37	118				
DNAH5	1767	broad.mit.edu	37	5	13700841	13700841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13700841C>T	ENST00000265104.4	-	78	13735	c.13631G>A	c.(13630-13632)gGc>gAc	p.G4544D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4544					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCCCAGCCAGCACCTTC	0.428									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13630-13632)gGc>gAc		dynein, axonemal, heavy chain 5							196.0	186.0	189.0					5																	13700841		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700841C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13631G>A	5.37:g.13700841C>T	ENSP00000265104:p.Gly4544Asp						p.G4544D	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13735	-	Lung NSC(4;0.00476)		4544					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13631G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366928	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.08008	3.14	5.95	5.07	0.68467	Dynein heavy chain (1);	0.156736	0.56097	D	0.000027	T	0.26882	0.0658	M	0.80982	2.52	0.58432	D	0.999995	P	0.44816	0.844	P	0.55749	0.783	T	0.02138	-1.1207	10	0.32370	T	0.25	.	17.1138	0.86683	0.0:0.8734:0.1266:0.0	.	4544	Q8TE73	DYH5_HUMAN	D	4544	ENSP00000265104:G4544D	ENSP00000265104:G4544D	G	-	2	0	DNAH5	13753841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.966000	0.56795	1.488000	0.48433	0.650000	0.86243	GGC		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		129	716	0	0	0	1	0	129	716				
PAIP1	10605	broad.mit.edu	37	5	43533874	43533874	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43533874T>C	ENST00000306846.3	-	9	1450	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAIP1_ENST00000514514.1_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000436644.2_Silent_p.T327T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	406					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CACCATCAGATGTATAAAATG	0.348																																						ENST00000306846.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1216-1218)acA>acG		poly(A) binding protein interacting protein 1							153.0	155.0	154.0					5																	43533874		2203	4300	6503	SO:0001819	synonymous_variant	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43533874T>C	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1218A>G	5.37:g.43533874T>C						PAIP1_ENST00000436644.2_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000514514.1_Silent_p.T327T	p.T406T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN			9	1450	-	Lung NSC(6;2.07e-05)		406					A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	c.1218A>G	CCDS3947.1																																																																																				0.348	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		97	448	0	0	0	1	0	97	448				
MAN2A1	4124	broad.mit.edu	37	5	109191007	109191007	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109191007T>C	ENST00000261483.4	+	20	4195	c.3143T>C	c.(3142-3144)cTg>cCg	p.L1048P	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1048					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACATTCATCTGGTTAATTTG	0.358																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3142-3144)cTg>cCg		mannosidase, alpha, class 2A, member 1							125.0	106.0	112.0					5																	109191007		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109191007T>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3143T>C	5.37:g.109191007T>C	ENSP00000261483:p.Leu1048Pro					MAN2A1_ENST00000505313.1_3'UTR	p.L1048P	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	20	4195	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1048					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3143T>C	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306901	0.81247	.	.	ENSG00000112893	ENST00000261483	D	0.87334	-2.24	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.074033	0.56097	D	0.000028	D	0.94503	0.8230	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95268	0.8375	10	0.87932	D	0	-11.097	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1048	Q16706	MA2A1_HUMAN	P	1048	ENSP00000261483:L1048P	ENSP00000261483:L1048P	L	+	2	0	MAN2A1	109218906	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.560000	0.73950	2.308000	0.77769	0.533000	0.62120	CTG		0.358	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			44	181	0	0	0	1	0	44	181				
ANKS1A	23294	broad.mit.edu	37	6	34935091	34935091	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34935091C>T	ENST00000360359.3	+	2	411	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ANKS1A_ENST00000535627.1_Silent_p.G91G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	91					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTTGAATGGCCATAAGTAAG	0.463																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(271-273)ggC>ggT		ankyrin repeat and sterile alpha motif domain containing 1A							241.0	204.0	217.0					6																	34935091		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34935091C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.273C>T	6.37:g.34935091C>T						ANKS1A_ENST00000535627.1_Silent_p.G91G	p.G91G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			2	411	+			91					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.273C>T	CCDS4798.1																																																																																				0.463	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		53	321	0	0	0	1	0	53	321				
GPR98	84059	broad.mit.edu	37	5	90106690	90106690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90106690C>T	ENST00000405460.2	+	74	15709	c.15613C>T	c.(15613-15615)Cct>Tct	p.P5205S	GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5205					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCTGAAAAGCCTGATGTGGC	0.473																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15613-15615)Cct>Tct		G protein-coupled receptor 98							80.0	79.0	79.0					5																	90106690		1964	4184	6148	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106690C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15613C>T	5.37:g.90106690C>T	ENSP00000384582:p.Pro5205Ser					GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	p.P5205S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15709	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5205					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15613C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005721	0.19199	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27256	1.71;1.68	5.01	4.08	0.47627	.	0.000000	0.49305	D	0.000150	T	0.25005	0.0607	L	0.51422	1.61	0.29785	N	0.833667	P;B;P	0.40180	0.58;0.118;0.705	B;B;B	0.41510	0.196;0.026;0.359	T	0.09465	-1.0673	9	.	.	.	.	10.1779	0.42950	0.1985:0.8015:0.0:0.0	.	866;5205;866	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	S	5205;5205;866	ENSP00000384582:P5205S;ENSP00000392618:P866S	.	P	+	1	0	GPR98	90142446	0.998000	0.40836	0.993000	0.49108	0.798000	0.45092	1.080000	0.30779	2.504000	0.84457	0.563000	0.77884	CCT		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		90	320	0	0	0	1	0	90	320				
FER	2241	broad.mit.edu	37	5	108281903	108281903	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108281903T>G	ENST00000281092.4	+	11	1693	c.1309T>G	c.(1309-1311)Tct>Gct	p.S437A	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.S262A	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	437					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCTCCAAAATCTGCACTGGG	0.378																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1309-1311)Tct>Gct		fer (fps/fes related) tyrosine kinase							117.0	123.0	121.0					5																	108281903		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108281903T>G	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1309T>G	5.37:g.108281903T>G	ENSP00000281092:p.Ser437Ala					FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.S262A	p.S437A	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	11	1693	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	437					B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1309T>G	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	8.595	0.885594	0.17540	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.74737	-0.87;-0.87	5.45	5.45	0.79879	.	0.152771	0.64402	D	0.000011	T	0.74238	0.3690	M	0.70595	2.14	0.42790	D	0.993896	B	0.06786	0.001	B	0.04013	0.001	T	0.72043	-0.4409	10	0.51188	T	0.08	-12.5668	15.7979	0.78424	0.0:0.0:0.0:1.0	.	437	P16591	FER_HUMAN	A	437;262	ENSP00000281092:S437A;ENSP00000394297:S262A	ENSP00000281092:S437A	S	+	1	0	FER	108309802	1.000000	0.71417	0.989000	0.46669	0.655000	0.38815	3.468000	0.53086	2.196000	0.70406	0.402000	0.26972	TCT		0.378	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		101	402	0	0	0	1	0	101	402				
IL6	3569	broad.mit.edu	37	7	22767180	22767180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22767180C>A	ENST00000404625.1	+	3	596	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q|IL6_ENST00000407492.1_Intron|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q			P05231	IL6_HUMAN	interleukin 6	46					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CACAGACAGCCACTCACCTCT	0.572																																					Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(136-138)cCa>cAa		interleukin 6 (interferon, beta 2)	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						106.0	102.0	103.0					7																	22767180		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22767180C>A	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.137C>A	7.37:g.22767180C>A	ENSP00000385675:p.Pro46Gln					AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000407492.1_Intron|IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000401651.1_Intron|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q	p.P46Q			P05231	IL6_HUMAN			3	596	+			46					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.137C>A	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752806	0.31046	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;0.82;1.81;-0.81	5.2	-4.27	0.03744	Four-helical cytokine, core (1);	2.471950	0.01105	N	0.005476	T	0.56171	0.1967	N	0.12961	0.28	0.09310	N	1	B;B;B	0.27882	0.192;0.177;0.025	B;B;B	0.29267	0.1;0.053;0.012	T	0.47548	-0.9109	10	0.51188	T	0.08	11.6934	4.7642	0.13123	0.2457:0.2693:0.0:0.485	.	100;46;46	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	Q	46;46;46;100;23;46	ENSP00000385675:P46Q;ENSP00000405150:P46Q;ENSP00000258743:P46Q;ENSP00000405994:P100Q;ENSP00000384928:P23Q;ENSP00000385227:P46Q	ENSP00000258743:P46Q	P	+	2	0	IL6	22733705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.985000	0.03751	-1.066000	0.03164	-0.263000	0.10527	CCA		0.572	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		79	396	1	0	6.14238e-36	1	7.34322e-36	79	396				
TEX11	56159	broad.mit.edu	37	X	69749792	69749792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69749792C>T	ENST00000395889.2	-	30	2778	c.2623G>A	c.(2623-2625)Gta>Ata	p.V875I	TEX11_ENST00000374320.2_Missense_Mutation_p.V550I|TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000344304.3_Missense_Mutation_p.V875I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	875					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AACATAAGTACTCCGGTATTC	0.438																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2623-2625)Gta>Ata		testis expressed 11							124.0	97.0	106.0					X																	69749792		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69749792C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2623G>A	X.37:g.69749792C>T	ENSP00000379226:p.Val875Ile					TEX11_ENST00000374320.2_Missense_Mutation_p.V550I|TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000344304.3_Missense_Mutation_p.V875I	p.V875I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			30	2778	-	Renal(35;0.156)		875					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2623G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621150	0.00820	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.38887	1.7;1.69;1.11;1.69	4.33	1.86	0.25419	.	0.228496	0.32533	N	0.005965	T	0.10337	0.0253	N	0.00471	-1.455	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31806	-0.9930	9	.	.	.	-9.7909	5.8574	0.18727	0.0:0.3422:0.0:0.6578	.	860;875	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	860;875;550;875	ENSP00000363453:V860I;ENSP00000379226:V875I;ENSP00000363440:V550I;ENSP00000340995:V875I	.	V	-	1	0	TEX11	69666517	1.000000	0.71417	0.457000	0.27056	0.563000	0.35712	1.370000	0.34238	0.541000	0.28827	-0.428000	0.05917	GTA		0.438	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			100	314	0	0	0	1	0	100	314				
ST6GAL1	6480	broad.mit.edu	37	3	186793412	186793412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186793412C>T	ENST00000169298.3	+	8	1716	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	348					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCCATCCAAGCGCAAGACTGA	0.512																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1042-1044)Cgc>Tgc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							148.0	121.0	130.0					3																	186793412		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793412C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1042C>T	3.37:g.186793412C>T	ENSP00000169298:p.Arg348Cys					ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C	p.R348C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1716	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		348					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.1042C>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415624	0.83449	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.32988	1.43;1.43;1.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73858	-0.3850	10	0.87932	D	0	-7.2879	17.8009	0.88586	0.0:1.0:0.0:0.0	.	348	P15907	SIAT1_HUMAN	C	348;117;348	ENSP00000169298:R348C;ENSP00000412221:R117C;ENSP00000389337:R348C	ENSP00000169298:R348C	R	+	1	0	ST6GAL1	188276106	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.321000	0.33678	2.884000	0.98904	0.655000	0.94253	CGC		0.512	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		58	248	0	0	0	1	0	58	248				
DENND3	22898	broad.mit.edu	37	8	142176355	142176355	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142176355G>A	ENST00000262585.2	+	12	1658	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	DENND3_ENST00000519811.1_Silent_p.S540S|DENND3_ENST00000424248.1_Silent_p.S408S	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	460					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAAGTCCTCGCACCTGCATG	0.552																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1618-1620)tcG>tcA		DENN/MADD domain containing 3							125.0	134.0	131.0					8																	142176355		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142176355G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1380G>A	8.37:g.142176355G>A						DENND3_ENST00000424248.1_Silent_p.S408S|DENND3_ENST00000262585.2_Silent_p.S460S	p.S540S			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		12	1690	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		460					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.1620G>A	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	4.540	0.100272	0.08731	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.12	-5.67	0.02444	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-11.8227	2.3262	0.04223	0.4485:0.2889:0.1156:0.147	.	.	.	.	T	465	.	.	A	+	1	0	DENND3	142245537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.629000	0.05508	-1.175000	0.02751	-1.020000	0.02445	GCA		0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		152	783	0	0	0	1	0	152	783				
ZBTB32	27033	broad.mit.edu	37	19	36205967	36205967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36205967G>T	ENST00000392197.2	+	3	757	c.439G>T	c.(439-441)Gag>Tag	p.E147*	KMT2B_ENST00000607650.1_RNA|ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000420124.1_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	147					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACCCTGGAGAGAAGCAGAA	0.547																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(439-441)Gag>Tag		zinc finger and BTB domain containing 32							41.0	44.0	43.0					19																	36205967		2203	4300	6503	SO:0001587	stop_gained	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205967G>T	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.439G>T	19.37:g.36205967G>T	ENSP00000376035:p.Glu147*					ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*	p.E147*			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	757	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		147					Q8WVP2	Nonsense_Mutation	SNP	ENST00000392197.2	37	c.439G>T	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	7.091	0.572239	0.13623	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	5.2	0.103	0.14526	.	0.463445	0.18365	N	0.143458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.4779	7.9708	0.30126	0.3984:0.0:0.6016:0.0	.	.	.	.	X	147	.	ENSP00000262630:E147X	E	+	1	0	ZBTB32	40897807	0.091000	0.21658	0.010000	0.14722	0.360000	0.29518	0.189000	0.17037	0.218000	0.20820	0.655000	0.94253	GAG		0.547	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		41	217	1	0	1.57019e-19	1	1.75207e-19	41	217				
CCDC114	93233	broad.mit.edu	37	19	48800327	48800327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800327C>T	ENST00000315396.7	-	14	2601	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	640	Ser-rich.				outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CCCGAGGCCTCCGCTCGAATC	0.662																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1918-1920)gGa>gAa		coiled-coil domain containing 114							65.0	64.0	64.0					19																	48800327		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800327C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1919G>A	19.37:g.48800327C>T	ENSP00000318429:p.Gly640Glu						p.G640E	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2601	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	640			Ser-rich.		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1919G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969332	0.53614	.	.	ENSG00000105479	ENST00000315396	T	0.26518	1.73	3.6	2.56	0.30785	.	.	.	.	.	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999999	D	0.63046	0.992	P	0.51806	0.68	T	0.06972	-1.0797	9	0.56958	D	0.05	-3.013	5.9822	0.19413	0.0:0.8585:0.0:0.1415	.	640	Q96M63	CC114_HUMAN	E	640	ENSP00000318429:G640E	ENSP00000318429:G640E	G	-	2	0	CCDC114	53492139	0.584000	0.26766	0.115000	0.21578	0.012000	0.07955	0.856000	0.27818	1.931000	0.55961	0.655000	0.94253	GGA		0.662	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		81	410	0	0	0	1	0	81	410				
EPPK1	83481	broad.mit.edu	37	8	144940249	144940249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940249C>T	ENST00000525985.1	-	2	7244	c.7173G>A	c.(7171-7173)acG>acA	p.T2391T				P58107	EPIPL_HUMAN	epiplakin 1	2391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTCTCGTGCGTGTTGGGGT	0.627																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7171-7173)acG>acA		epiplakin 1							210.0	201.0	204.0					8																	144940249		2178	4262	6440	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940249C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7173G>A	8.37:g.144940249C>T							p.T2391T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7244	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2391					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7173G>A																																																																																					0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		47	2038	0	0	0	1	0	47	2038				
SCN10A	6336	broad.mit.edu	37	3	38753722	38753722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38753722C>T	ENST00000449082.2	-	22	4018	c.4019G>A	c.(4018-4020)aGc>aAc	p.S1340N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1340					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCAGAAGAAGCTGCCAGTGGA	0.428																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4018-4020)aGc>aAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						119.0	116.0	117.0					3																	38753722		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38753722C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4019G>A	3.37:g.38753722C>T	ENSP00000390600:p.Ser1340Asn						p.S1340N	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	22	4018	-			1340					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4019G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522538	0.13066	.	.	ENSG00000185313	ENST00000449082	D	0.98493	-4.96	4.37	-6.51	0.01878	Ion transport (1);	1.098550	0.06870	N	0.800618	D	0.86171	0.5869	N	0.00191	-1.88	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	D	0.83562	0.0107	10	0.21540	T	0.41	.	6.5023	0.22176	0.0:0.2823:0.3314:0.3862	.	1340	Q9Y5Y9	SCNAA_HUMAN	N	1340	ENSP00000390600:S1340N	ENSP00000390600:S1340N	S	-	2	0	SCN10A	38728726	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-1.875000	0.01634	-1.092000	0.03062	-0.378000	0.06908	AGC		0.428	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		81	461	0	0	0	1	0	81	461				
ADCY1	107	broad.mit.edu	37	7	45614617	45614617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45614617G>A	ENST00000297323.7	+	1	497	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	159					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	gccAGCGACCGCCGAACAAGG	0.697																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(475-477)Gcc>Acc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						12.0	12.0	12.0					7																	45614617		2137	4178	6315	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45614617G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.475G>A	7.37:g.45614617G>A	ENSP00000297323:p.Ala159Thr					ADCY1_ENST00000432715.1_5'UTR	p.A159T	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			1	497	+			159					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.475G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756975	0.31137	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.80566	-1.39	3.7	2.76	0.32466	.	0.141712	0.47093	D	0.000248	T	0.61451	0.2348	L	0.27053	0.805	0.36257	D	0.854304	B	0.30439	0.279	B	0.19148	0.024	T	0.62201	-0.6904	10	0.28530	T	0.3	.	5.6742	0.17739	0.0:0.2311:0.5639:0.2049	.	159	Q08828	ADCY1_HUMAN	T	159	ENSP00000297323:A159T	ENSP00000297323:A159T	A	+	1	0	ADCY1	45581142	0.964000	0.33143	0.393000	0.26258	0.410000	0.31052	1.931000	0.40134	1.879000	0.54435	0.205000	0.17691	GCC		0.697	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		35	132	0	0	0	1	0	35	132				
STXBP5L	9515	broad.mit.edu	37	3	121126378	121126378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126378C>T	ENST00000273666.6	+	24	3219	c.2948C>T	c.(2947-2949)gCa>gTa	p.A983V	STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	983					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATACTGCAAGCAAATGTGGTG	0.403																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2947-2949)gCa>gTa		syntaxin binding protein 5-like							139.0	130.0	133.0					3																	121126378		1956	4162	6118	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126378C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2948C>T	3.37:g.121126378C>T	ENSP00000273666:p.Ala983Val					STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V	p.A983V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	3219	+			983					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2948C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345014	0.95807	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.59906	1.82;1.33;1.33;1.33;1.33;0.23	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.69335	-0.5172	10	0.21014	T	0.42	-19.0912	19.3769	0.94514	0.0:1.0:0.0:0.0	.	959;983	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	983;959;959;957;983;926	ENSP00000273666:A983V;ENSP00000420019:A959V;ENSP00000419627:A959V;ENSP00000420287:A957V;ENSP00000420666:A983V;ENSP00000420167:A926V	ENSP00000273666:A983V	A	+	2	0	STXBP5L	122609068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.660000	0.90430	0.650000	0.86243	GCA		0.403	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			17	457	0	0	0	1	0	17	457				
MAP6	4135	broad.mit.edu	37	11	75316859	75316859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75316859G>A	ENST00000304771.3	-	3	2060	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	MAP6_ENST00000434603.2_Missense_Mutation_p.A437V|MAP6_ENST00000526740.1_Missense_Mutation_p.A108V	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	437					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTACTCTTTCGCCTCAGCCAG	0.468																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000434603.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1309-1311)gCg>gTg		microtubule-associated protein 6							154.0	127.0	136.0					11																	75316859		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75316859G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1310C>T	11.37:g.75316859G>A	ENSP00000307093:p.Ala437Val					MAP6_ENST00000526740.1_Missense_Mutation_p.A108V|MAP6_ENST00000304771.3_Missense_Mutation_p.A437V	p.A437V	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN			3	1374	-	Ovarian(111;0.11)		437					A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1310C>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265520	0.95399	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.72051	-0.62;-0.02	5.39	5.39	0.77823	.	0.000000	0.47455	D	0.000227	D	0.83658	0.5302	M	0.70275	2.135	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.83901	0.0290	10	0.52906	T	0.07	-18.7907	18.0851	0.89455	0.0:0.0:1.0:0.0	.	437	Q96JE9	MAP6_HUMAN	V	437;108;108;437	ENSP00000307093:A437V;ENSP00000415108:A437V	ENSP00000307093:A437V	A	-	2	0	MAP6	74994507	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.420000	0.97426	2.676000	0.91093	0.655000	0.94253	GCG		0.468	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		122	550	0	0	0	1	0	122	550				
ZNF831	128611	broad.mit.edu	37	20	57766263	57766263	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766263C>T	ENST00000371030.2	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	63	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCACTGTACCACACGGTGC	0.697																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(187-189)taC>taT		zinc finger protein 831							12.0	14.0	13.0					20																	57766263		1875	4076	5951	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766263C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.189C>T	20.37:g.57766263C>T							p.Y63Y	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	189	+	all_lung(29;0.0085)		63			Pro-rich.		Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.189C>T	CCDS42894.1																																																																																				0.697	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		32	144	0	0	0	1	0	32	144				
KIAA0020	9933	broad.mit.edu	37	9	2811514	2811514	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2811514C>T	ENST00000397885.2	-	15	1688	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	494	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGTGTTCTTGCAGGTAGCTTA	0.483																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(1480-1482)ctG>ctA		KIAA0020							157.0	143.0	148.0					9																	2811514		2203	4300	6503	SO:0001819	synonymous_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2811514C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1482G>A	9.37:g.2811514C>T							p.L494L	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	15	1688	-			494			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	ENST00000397885.2	37	c.1482G>A	CCDS6448.2																																																																																				0.483	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		120	498	0	0	0	1	0	120	498				
DDHD1	80821	broad.mit.edu	37	14	53518626	53518626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53518626C>T	ENST00000323669.5	-	12	2456	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	819	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GATTAAAGAACGATTCTTGAA	0.358																																						ENST00000323669.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2455-2457)tcG>tcA		DDHD domain containing 1							86.0	75.0	78.0					14																	53518626		1564	3580	5144	SO:0001819	synonymous_variant	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53518626C>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2457G>A	14.37:g.53518626C>T						DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron	p.S819S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN			12	2456	-	Breast(41;0.037)		819			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	c.2457G>A	CCDS53895.1																																																																																				0.358	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			9	34	0	0	0	1	0	9	34				
UNC79	57578	broad.mit.edu	37	14	94155086	94155086	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94155086A>G	ENST00000393151.2	+	45	7102	c.7102A>G	c.(7102-7104)Att>Gtt	p.I2368V	UNC79_ENST00000555664.1_Missense_Mutation_p.I2329V|UNC79_ENST00000553484.1_Missense_Mutation_p.I2390V|UNC79_ENST00000256339.4_Missense_Mutation_p.I2191V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2368					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGGCCCAGATTGCAGCCAT	0.507																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7168-7170)Att>Gtt		unc-79 homolog (C. elegans)							101.0	92.0	95.0					14																	94155086		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94155086A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7102A>G	14.37:g.94155086A>G	ENSP00000376858:p.Ile2368Val					UNC79_ENST00000555664.1_Missense_Mutation_p.I2329V|UNC79_ENST00000393151.2_Missense_Mutation_p.I2368V|UNC79_ENST00000256339.4_Missense_Mutation_p.I2191V	p.I2390V			Q9P2D8	UNC79_HUMAN			46	7322	+			2368					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7168A>G		.	.	.	.	.	.	.	.	.	.	A	12.22	1.873202	0.33069	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18174	2.23;2.24;2.23;2.23	5.62	3.23	0.37069	.	0.099482	0.64402	N	0.000001	T	0.09512	0.0234	N	0.17082	0.46	0.40446	D	0.980091	B	0.09022	0.002	B	0.13407	0.009	T	0.21965	-1.0230	10	0.22706	T	0.39	-13.8712	8.4765	0.33016	0.8001:0.132:0.0679:0.0	.	2390	C9JQL1	.	V	2191;2329;2390;2368;2390	ENSP00000256339:I2191V;ENSP00000450868:I2329V;ENSP00000451360:I2390V;ENSP00000376858:I2368V	ENSP00000256339:I2191V	I	+	1	0	KIAA1409	93224839	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.221000	0.65272	0.487000	0.27698	0.459000	0.35465	ATT		0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		18	352	0	0	0	1	0	18	352				
DICER1	23405	broad.mit.edu	37	14	95571439	95571439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95571439C>T	ENST00000526495.1	-	22	3529	c.3238G>A	c.(3238-3240)Gtg>Atg	p.V1080M	DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M|DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M|DICER1_ENST00000556045.1_Silent_p.A3A|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1080					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGACTCCCACGCCAGCATCG	0.488			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3238-3240)Gtg>Atg		dicer 1, ribonuclease type III							97.0	100.0	99.0					14																	95571439		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571439C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3238G>A	14.37:g.95571439C>T	ENSP00000437256:p.Val1080Met					DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M|DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M|DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000556045.1_Silent_p.A3A	p.V1080M			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3529	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1080					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3238G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539243	0.85917	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.4	5.65	4.74	0.60224	.	0.059006	0.64402	D	0.000002	T	0.69024	0.3065	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	T	0.72207	-0.4360	10	0.62326	D	0.03	-15.7828	16.3846	0.83500	0.0:0.868:0.132:0.0	.	1080	Q9UPY3	DICER_HUMAN	M	1080	ENSP00000343745:V1080M;ENSP00000437256:V1080M;ENSP00000376783:V1080M;ENSP00000435681:V1080M;ENSP00000444719:V1080M	ENSP00000343745:V1080M	V	-	1	0	DICER1	94641192	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.786000	0.85741	1.343000	0.45638	0.462000	0.41574	GTG		0.488	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			29	589	0	0	0	1	0	29	589				
SLA	6503	broad.mit.edu	37	8	134060123	134060123	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134060123C>T	ENST00000338087.5	-	6	1123	c.304G>A	c.(304-306)Gac>Aac	p.D102N	TG_ENST00000377869.1_Intron|SLA_ENST00000518565.1_5'Flank|SLA_ENST00000427060.2_Missense_Mutation_p.D142N|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.D119N|SLA_ENST00000395352.3_Missense_Mutation_p.D119N|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_5'UTR	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	102	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACCTTTGTGTCTGGCAGCTGC	0.572																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(304-306)Gac>Aac		Src-like-adaptor							66.0	66.0	66.0					8																	134060123		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134060123C>T		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.304G>A	8.37:g.134060123C>T	ENSP00000337548:p.Asp102Asn					TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000517648.1_Missense_Mutation_p.D119N|SLA_ENST00000427060.2_Missense_Mutation_p.D142N|SLA_ENST00000395352.3_Missense_Mutation_p.D119N|TG_ENST00000377869.1_Intron	p.D102N	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		6	1123	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	102			SH2.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.304G>A	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828569	0.50845	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	T;T;T;D;D	0.92348	1.57;1.57;1.57;-3.02;-3.02	5.6	5.6	0.85130	SH2 motif (4);	0.181413	0.64402	D	0.000017	T	0.82226	0.4991	N	0.02865	-0.47	0.51233	D	0.99991	B;B;B;B;B	0.18461	0.028;0.004;0.004;0.0;0.004	B;B;B;B;B	0.19391	0.025;0.01;0.01;0.002;0.01	T	0.76926	-0.2778	10	0.25751	T	0.34	-43.0063	17.4647	0.87629	0.0:1.0:0.0:0.0	.	119;102;102;102;102	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	N	102;142;119;119;102	ENSP00000337548:D102N;ENSP00000394049:D142N;ENSP00000378759:D119N;ENSP00000428559:D119N;ENSP00000430596:D102N	ENSP00000337548:D102N	D	-	1	0	SLA	134129305	0.922000	0.31269	1.000000	0.80357	0.994000	0.84299	1.859000	0.39418	2.793000	0.96121	0.563000	0.77884	GAC		0.572	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			39	270	0	0	0	1	0	39	270				
RPS6KA2	6196	broad.mit.edu	37	6	166827296	166827296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166827296C>T	ENST00000265678.4	-	20	2285	c.2062G>A	c.(2062-2064)Gtg>Atg	p.V688M	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.V713M|RPS6KA2_ENST00000509742.1_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	688					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACCAGGTGCACGTCCTGTCGG	0.577																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(2137-2139)Gtg>Atg		ribosomal protein S6 kinase, 90kDa, polypeptide 2							102.0	79.0	86.0					6																	166827296		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166827296C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.2062G>A	6.37:g.166827296C>T	ENSP00000265678:p.Val688Met					RPS6KA2_ENST00000265678.4_Missense_Mutation_p.V688M|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M	p.V713M			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	22	2477	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	688					B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.2137G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393308	0.42410	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	3.99	3.99	0.46301	Protein kinase-like domain (1);	0.410486	0.24276	N	0.039959	T	0.22936	0.0554	L	0.40543	1.245	0.80722	D	1	B;B;D	0.61080	0.302;0.287;0.989	B;B;B	0.42087	0.029;0.064;0.375	T	0.02519	-1.1147	10	0.29301	T	0.29	.	15.671	0.77274	0.0:1.0:0.0:0.0	.	713;696;688	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	M	688;713;696;599;599	ENSP00000265678:V688M;ENSP00000422435:V713M;ENSP00000427015:V696M;ENSP00000422484:V599M;ENSP00000386050:V599M	ENSP00000265678:V688M	V	-	1	0	RPS6KA2	166747286	0.979000	0.34478	0.934000	0.37439	0.863000	0.49368	3.460000	0.53028	2.245000	0.73994	0.478000	0.44815	GTG		0.577	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		23	163	0	0	0	1	0	23	163				
XIST	7503	broad.mit.edu	37	X	73072071	73072071	+	lincRNA	SNP	G	G	A	rs369038957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73072071G>A	ENST00000429829.1	-	0	517					NR_001564.2				X inactive specific transcript (non-protein coding)																		GCAGGTATCCGATACCCCGAT	0.483																																						ENST00000429829.1																			0															G		0,1417		0,0,0,542,333	19.0	19.0	19.0			-2.4	0.7	X		19	1,3106		0,0,1,1116,874	no	intergenic				0,0,1,1658,1207	AA,AG,A,GG,G		0.0322,0.0,0.0221			73072071	1,4523	875	1991	2866			0							g.chrX:73072071G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73072071G>A								NR_001564.2						0	517	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.483	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		18	72	0	0	0	1	0	18	72				
ASNS	440	broad.mit.edu	37	7	97498296	97498296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498296C>T	ENST00000394309.3	-	3	644	c.173G>A	c.(172-174)gGa>gAa	p.G58E	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000175506.4_Missense_Mutation_p.G58E|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	58	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGCTGCATTCCAAACAGCGG	0.453																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(172-174)gGa>gAa		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						87.0	76.0	80.0					7																	97498296		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97498296C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.173G>A	7.37:g.97498296C>T	ENSP00000377846:p.Gly58Glu					ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000394309.3_Missense_Mutation_p.G58E|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E|ASNS_ENST00000437628.1_Intron	p.G58E	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			4	701	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		58			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.173G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345652	0.82022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.57907	0.4;0.4;0.4;0.37;0.37;0.58	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.054876	0.64402	D	0.000001	T	0.82038	0.4950	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88657	0.3186	10	0.87932	D	0	-17.7657	13.4946	0.61416	0.0:1.0:0.0:0.0	.	58	P08243	ASNS_HUMAN	E	58;58;58;37;37;58;58;58;37	ENSP00000175506:G58E;ENSP00000377846:G58E;ENSP00000377845:G58E;ENSP00000414901:G37E;ENSP00000406994:G37E;ENSP00000400422:G58E	ENSP00000175506:G58E	G	-	2	0	ASNS	97336232	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	GGA		0.453	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		93	293	0	0	0	1	0	93	293				
MTMR9	66036	broad.mit.edu	37	8	11180276	11180276	+	Silent	SNP	C	C	T	rs148685240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11180276C>T	ENST00000221086.3	+	10	2102	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	MTMR9_ENST00000526292.1_Silent_p.D458D|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	543						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAACAGAGGACGGGATGCAGG	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19249	0.0		0.0	False		,,,				2504	0.0					ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(1627-1629)gaC>gaT		myotubularin related protein 9		C		2,4404	4.2+/-10.8	0,2,2201	78.0	75.0	76.0		1629	-6.0	0.0	8	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	MTMR9	NM_015458.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		543/550	11180276	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11180276C>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1629C>T	8.37:g.11180276C>T						MTMR9_ENST00000526292.1_Silent_p.D458D|AF131216.6_ENST00000498997.2_RNA	p.D543D	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	10	2102	+			543					B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	c.1629C>T	CCDS5979.1																																																																																				0.463	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		49	249	0	0	0	1	0	49	249				
ZSWIM4	65249	broad.mit.edu	37	19	13941765	13941765	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13941765C>T	ENST00000254323.2	+	13	3060	c.2871C>T	c.(2869-2871)ccC>ccT	p.P957P	ZSWIM4_ENST00000440752.2_Silent_p.P791P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	957							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGCTGGCGCCCGACGGGCACC	0.582																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2869-2871)ccC>ccT		zinc finger, SWIM-type containing 4							40.0	41.0	41.0					19																	13941765		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13941765C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2871C>T	19.37:g.13941765C>T						ZSWIM4_ENST00000440752.2_Silent_p.P791P	p.P957P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	3060	+			957						Silent	SNP	ENST00000254323.2	37	c.2871C>T	CCDS32924.1																																																																																				0.582	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		9	447	0	0	0	1	0	9	447				
ZNF662	389114	broad.mit.edu	37	3	42956386	42956386	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956386A>C	ENST00000541208.1	+	5	1190	c.821A>C	c.(820-822)aAa>aCa	p.K274T	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T|ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGAGAGAAACCCTTTGAA	0.438																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(820-822)aAa>aCa		zinc finger protein 662							90.0	87.0	88.0					3																	42956386		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956386A>C	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.821A>C	3.37:g.42956386A>C	ENSP00000446208:p.Lys274Thr					ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T|ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.K274T			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1190	+			274					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.821A>C	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210838	0.39102	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.24908	1.83;1.83;1.83	3.17	3.17	0.36434	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.77616	2.38	0.29025	N	0.886078	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	T	0.40327	-0.9569	9	0.87932	D	0	.	9.7081	0.40229	1.0:0.0:0.0:0.0	.	300;274	F8W7S8;Q6ZS27	.;ZN662_HUMAN	T	274;300;274	ENSP00000405047:K274T;ENSP00000329264:K300T;ENSP00000446208:K274T	ENSP00000329264:K300T	K	+	2	0	ZNF662	42931390	0.523000	0.26274	1.000000	0.80357	0.994000	0.84299	1.259000	0.32956	1.468000	0.48064	0.454000	0.30748	AAA		0.438	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		64	317	0	0	0	1	0	64	317				
AGL	178	broad.mit.edu	37	1	100349724	100349724	+	Missense_Mutation	SNP	C	C	T	rs147586981		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100349724C>T	ENST00000294724.4	+	18	2835	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000370163.3_Missense_Mutation_p.T786M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	786					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAGAGAAACACGAAACCTTAT	0.318																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2356-2358)aCg>aTg		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	102.0	110.0	107.0		2357,2357,2357,2357,2306,2309	2.9	0.0	1	dbSNP_134	107	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	81,81,81,81,81,81	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	786/1533,786/1533,786/1533,786/1533,769/1516,770/1517	100349724	1,13001	2203	4298	6501	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100349724C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2357C>T	1.37:g.100349724C>T	ENSP00000294724:p.Thr786Met					AGL_ENST00000370163.3_Missense_Mutation_p.T786M|AGL_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M	p.T786M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	18	2835	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	786					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2357C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247814	0.10130	2.27E-4	0.0	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.8	2.91	0.33838	.	0.294418	0.40064	N	0.001190	T	0.11922	0.0290	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.31274	0.317;0.317;0.212	B;B;B	0.36989	0.238;0.238;0.12	T	0.13019	-1.0525	10	0.46703	T	0.11	.	10.9457	0.47299	0.0:0.7394:0.0:0.2606	.	769;770;786	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	M	786;786;786;786;770;770;769	ENSP00000355106:T786M;ENSP00000359184:T786M;ENSP00000359182:T786M;ENSP00000294724:T786M;ENSP00000354971:T770M;ENSP00000359180:T770M;ENSP00000354635:T769M	ENSP00000294724:T786M	T	+	2	0	AGL	100122312	0.001000	0.12720	0.014000	0.15608	0.097000	0.18754	0.478000	0.22212	0.788000	0.33755	-0.143000	0.13931	ACG		0.318	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		20	216	0	0	0	1	0	20	216				
ATP5F1	515	broad.mit.edu	37	1	111999344	111999344	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111999344T>G	ENST00000369722.3	+	5	1086	c.480T>G	c.(478-480)gtT>gtG	p.V160V	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Silent_p.V99V	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	160					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCACTGGTTCAGAAGCGCC	0.403																																						ENST00000369722.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(478-480)gtT>gtG		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							119.0	111.0	113.0					1																	111999344		2203	4300	6503	SO:0001819	synonymous_variant	515				ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	g.chr1:111999344T>G	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.480T>G	1.37:g.111999344T>G						ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Silent_p.V99V	p.V160V	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	5	1086	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	160					Q9BQ68|Q9BRU8	Silent	SNP	ENST00000369722.3	37	c.480T>G	CCDS836.1																																																																																				0.403	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		67	594	0	0	0	1	0	67	594				
TTC26	79989	broad.mit.edu	37	7	138824680	138824680	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138824680C>T	ENST00000464848.1	+	4	359	c.279C>T	c.(277-279)gtC>gtT	p.V93V	TTC26_ENST00000495038.1_Silent_p.V93V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Silent_p.V93V|TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000478836.2_Silent_p.V93V			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	93					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATTCTGAAGTCTGGGTGAACC	0.383																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(277-279)gtC>gtT		tetratricopeptide repeat domain 26							125.0	115.0	119.0					7																	138824680		2203	4300	6503	SO:0001819	synonymous_variant	79989						binding	g.chr7:138824680C>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.279C>T	7.37:g.138824680C>T						TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000430935.1_Silent_p.V93V|TTC26_ENST00000478836.2_Silent_p.V93V|TTC26_ENST00000495038.1_Silent_p.V93V	p.V93V			A0AVF1	TTC26_HUMAN			4	359	+			93					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	c.279C>T	CCDS5852.1																																																																																				0.383	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		68	309	0	0	0	1	0	68	309				
FBN1	2200	broad.mit.edu	37	15	48703398	48703398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48703398C>T	ENST00000316623.5	-	66	8860	c.8405G>A	c.(8404-8406)gGc>gAc	p.G2802D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2802					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTAAAGAAGCCATCTTCATT	0.423																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(8404-8406)gGc>gAc		fibrillin 1							155.0	148.0	150.0					15																	48703398		2198	4297	6495	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48703398C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8405G>A	15.37:g.48703398C>T	ENSP00000325527:p.Gly2802Asp					FBN1_ENST00000561429.1_5'UTR	p.G2802D	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	66	8860	-		all_lung(180;0.00279)	2802					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8405G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775808	0.70107	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.75615	2.305	0.80722	D	1	P	0.48834	0.916	P	0.48166	0.569	D	0.86549	0.1833	10	0.59425	D	0.04	.	18.5303	0.90989	0.0:1.0:0.0:0.0	.	2802	P35555	FBN1_HUMAN	D	2802	ENSP00000325527:G2802D	ENSP00000325527:G2802D	G	-	2	0	FBN1	46490690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.585000	0.82584	2.785000	0.95823	0.650000	0.86243	GGC		0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			56	638	0	0	0	1	0	56	638				
CDH15	1013	broad.mit.edu	37	16	89256765	89256765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256765C>T	ENST00000289746.2	+	8	1158	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	365	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGTCCGCGTGCATGTGCAGGA	0.652																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1093-1095)Cat>Tat		cadherin 15, type 1, M-cadherin (myotubule)							41.0	39.0	40.0					16																	89256765		2196	4299	6495	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256765C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1093C>T	16.37:g.89256765C>T	ENSP00000289746:p.His365Tyr						p.H365Y	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1158	+			365			Cadherin 3.			Missense_Mutation	SNP	ENST00000289746.2	37	c.1093C>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	4.633	0.117686	0.08881	.	.	ENSG00000129910	ENST00000289746	T	0.51817	0.69	4.37	-0.792	0.10925	Cadherin (4);Cadherin-like (2);	1.865220	0.03230	U	0.178773	T	0.30293	0.0760	N	0.19112	0.55	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.28744	-1.0034	10	0.66056	D	0.02	.	1.7201	0.02910	0.3857:0.3398:0.1466:0.1279	.	365	P55291	CAD15_HUMAN	Y	365	ENSP00000289746:H365Y	ENSP00000289746:H365Y	H	+	1	0	CDH15	87784266	0.000000	0.05858	0.009000	0.14445	0.024000	0.10985	-1.673000	0.01951	0.176000	0.19873	0.555000	0.69702	CAT		0.652	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		8	138	0	0	0	1	0	8	138				
CPT1B	1375	broad.mit.edu	37	22	51009709	51009709	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51009709A>C	ENST00000360719.2	-	15	1890	c.1753T>G	c.(1753-1755)Ttc>Gtc	p.F585V	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V|CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	585					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTCAGGCAGAACTTACCCCTG	0.607																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1753-1755)Ttc>Gtc		carnitine palmitoyltransferase 1B (muscle)							87.0	79.0	82.0					22																	51009709		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009709A>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1753T>G	22.37:g.51009709A>C	ENSP00000353945:p.Phe585Val					CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V|CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V	p.F585V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	15	1890	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	585					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1753T>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377009	0.82682	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.82	3.67	0.42095	.	0.048406	0.85682	N	0.000000	D	0.92708	0.7682	M	0.77712	2.385	0.80722	D	1	B;D;D;D	0.89917	0.248;0.979;1.0;1.0	B;D;D;D	0.77004	0.064;0.94;0.989;0.984	D	0.91723	0.5390	10	0.87932	D	0	-29.2963	6.6287	0.22845	0.762:0.1573:0.0807:0.0	.	504;551;380;585	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	585;585;585;551;504;380;585	ENSP00000385486:F585V;ENSP00000312189:F585V;ENSP00000353945:F585V;ENSP00000409342:F551V;ENSP00000414713:F504V;ENSP00000410966:F380V;ENSP00000379011:F585V	ENSP00000312189:F585V	F	-	1	0	CPT1B	49356575	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.868000	0.69605	1.002000	0.39104	0.459000	0.35465	TTC		0.607	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		72	228	0	0	0	1	0	72	228				
ZC2HC1A	51101	broad.mit.edu	37	8	79590871	79590871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79590871C>T	ENST00000263849.4	+	3	269	c.167C>T	c.(166-168)gCt>gTt	p.A56V	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	56							metal ion binding (GO:0046872)										AGACAGAGAGCTGAAGGAACT	0.358																																						ENST00000263849.4																			0											c.(166-168)gCt>gTt		zinc finger, C2HC-type containing 1A							122.0	127.0	125.0					8																	79590871		2203	4299	6502	SO:0001583	missense	51101							g.chr8:79590871C>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.167C>T	8.37:g.79590871C>T	ENSP00000263849:p.Ala56Val					ZC2HC1A_ENST00000521176.1_3'UTR	p.A56V	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			3	269	+			56					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.167C>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976042	0.92982	.	.	ENSG00000104427	ENST00000263849	T	0.44482	0.92	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.28694	0.88	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	T	0.39078	-0.9631	9	.	.	.	-22.669	19.8459	0.96707	0.0:1.0:0.0:0.0	.	56	Q96GY0	F164A_HUMAN	V	56	ENSP00000263849:A56V	.	A	+	2	0	FAM164A	79753426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.207000	0.77899	2.788000	0.95919	0.585000	0.79938	GCT		0.358	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		92	384	0	0	0	1	0	92	384				
CCDC113	29070	broad.mit.edu	37	16	58292383	58292383	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58292383A>C	ENST00000219299.4	+	4	581	c.502A>C	c.(502-504)Act>Cct	p.T168P	CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TATTTTGGCCACTCAGAAAGT	0.413																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(502-504)Act>Cct		coiled-coil domain containing 113							81.0	79.0	80.0					16																	58292383		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58292383A>C	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.502A>C	16.37:g.58292383A>C	ENSP00000219299:p.Thr168Pro					CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	p.T168P	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			4	581	+			168					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.502A>C	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024128	0.35701	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.32023	1.47;1.51	5.18	5.18	0.71444	.	0.171358	0.52532	D	0.000061	T	0.27384	0.0672	L	0.55103	1.725	0.34379	D	0.692857	B;B	0.23377	0.012;0.084	B;B	0.24269	0.012;0.052	T	0.32134	-0.9918	10	0.21540	T	0.41	-15.1493	9.5198	0.39129	0.8226:0.1774:0.0:0.0	.	114;168	B4DR20;Q9H0I3	.;CC113_HUMAN	P	114;168	ENSP00000402588:T114P;ENSP00000219299:T168P	ENSP00000219299:T168P	T	+	1	0	CCDC113	56849884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.543000	0.36147	2.084000	0.62774	0.533000	0.62120	ACT		0.413	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		76	294	0	0	0	1	0	76	294				
RYR1	6261	broad.mit.edu	37	19	39038920	39038920	+	Missense_Mutation	SNP	G	G	A	rs368835421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39038920G>A	ENST00000359596.3	+	89	12142	c.12142G>A	c.(12142-12144)Gtg>Atg	p.V4048M	RYR1_ENST00000355481.4_Missense_Mutation_p.V4043M|RYR1_ENST00000360985.3_Missense_Mutation_p.V4043M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4048					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGACATGCTCGTGGAATCCTC	0.567																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12127-12129)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						181.0	129.0	147.0					19																	39038920		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39038920G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12142G>A	19.37:g.39038920G>A	ENSP00000352608:p.Val4048Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V4043M|RYR1_ENST00000359596.3_Missense_Mutation_p.V4048M	p.V4043M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		88	12258	+	all_cancers(60;7.91e-06)		4048					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12127G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696920	0.48202	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97505	-4.41;-4.41;-4.38	4.51	4.51	0.55191	.	0.000000	0.64402	U	0.000014	D	0.98362	0.9456	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	D	0.99372	1.0920	10	0.87932	D	0	.	17.3882	0.87422	0.0:0.0:1.0:0.0	.	4043;4043;4048	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	M	4048;4043;4043	ENSP00000352608:V4048M;ENSP00000347667:V4043M;ENSP00000354254:V4043M	ENSP00000347667:V4043M	V	+	1	0	RYR1	43730760	1.000000	0.71417	0.969000	0.41365	0.903000	0.53119	9.520000	0.98027	2.518000	0.84900	0.561000	0.74099	GTG		0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	345	0	0	0	1	0	9	345				
TG	7038	broad.mit.edu	37	8	133919108	133919108	+	Silent	SNP	C	C	A	rs61747463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133919108C>A	ENST00000220616.4	+	17	3850	c.3810C>A	c.(3808-3810)cgC>cgA	p.R1270R	TG_ENST00000377869.1_Silent_p.R1270R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1270					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGCGGACGCTGGGAGTCAC	0.642																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3808-3810)cgC>cgA		thyroglobulin							33.0	28.0	30.0					8																	133919108		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133919108C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3810C>A	8.37:g.133919108C>A						TG_ENST00000377869.1_Silent_p.R1270R	p.R1270R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	17	3850	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1270					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3810C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980737	0.18812	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.42	3.47	0.39725	.	.	.	.	.	T	0.56746	0.2006	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52968	-0.8504	4	.	.	.	.	8.0575	0.30614	0.1816:0.6431:0.1753:0.0	rs61747463	.	.	.	D	214	.	.	A	+	2	0	TG	133988290	0.180000	0.23148	0.857000	0.33713	0.795000	0.44927	0.416000	0.21198	1.241000	0.43820	0.609000	0.83330	GCT		0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		25	112	1	0	6.12954e-19	1	6.81806e-19	25	112				
HMGXB4	10042	broad.mit.edu	37	22	35680005	35680005	+	Silent	SNP	C	C	T	rs200603781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35680005C>T	ENST00000216106.5	+	6	1394	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	HMGXB4_ENST00000444518.2_Silent_p.R313R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	422					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAGTATCGCGTGACCATTG	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16347	0.0		0.0	False		,,,				2504	0.0					ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1264-1266)cgC>cgT		HMG box domain containing 4							188.0	157.0	168.0					22																	35680005		2203	4300	6503	SO:0001819	synonymous_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35680005C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1266C>T	22.37:g.35680005C>T						HMGXB4_ENST00000444518.2_Silent_p.R313R	p.R422R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			6	1394	+			422					O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	37	c.1266C>T	CCDS33641.1																																																																																				0.423	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		66	292	0	0	0	1	0	66	292				
DAPP1	27071	broad.mit.edu	37	4	100761522	100761522	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100761522T>A	ENST00000512369.1	+	3	369	c.301T>A	c.(301-303)Tct>Act	p.S101T	DAPP1_ENST00000296414.7_Missense_Mutation_p.S101T	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	101	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TGAATTCTCATCTTTGAAGGA	0.333																																						ENST00000296414.7																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(301-303)Tct>Act		dual adaptor of phosphotyrosine and 3-phosphoinositides							59.0	55.0	56.0					4																	100761522		1817	4078	5895	SO:0001583	missense	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100761522T>A	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.301T>A	4.37:g.100761522T>A	ENSP00000423602:p.Ser101Thr					DAPP1_ENST00000512369.1_Missense_Mutation_p.S101T	p.S101T			Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	3	382	+			101			SH2.		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	c.301T>A	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473587	0.43942	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.89681	-2.55;-2.55	5.55	4.32	0.51571	SH2 motif (5);	0.295543	0.34245	N	0.004132	T	0.78394	0.4276	N	0.21194	0.64	0.38763	D	0.954374	B;B;B	0.24426	0.103;0.003;0.001	B;B;B	0.23574	0.047;0.005;0.007	T	0.72265	-0.4344	10	0.15499	T	0.54	1.7998	8.2107	0.31481	0.3907:0.0:0.0:0.6093	.	101;101;101	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	T	101	ENSP00000296414:S101T;ENSP00000423602:S101T	ENSP00000296414:S101T	S	+	1	0	DAPP1	100980545	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.132000	0.50523	2.117000	0.64856	0.533000	0.62120	TCT		0.333	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			22	97	0	0	0	1	0	22	97				
MFAP3L	9848	broad.mit.edu	37	4	170926947	170926947	+	Missense_Mutation	SNP	C	C	T	rs547471341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170926947C>T	ENST00000361618.3	-	2	389	c.82G>A	c.(82-84)Gct>Act	p.A28T	MFAP3L_ENST00000393702.3_Missense_Mutation_p.A28T|MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T|MFAP3L_ENST00000393704.3_5'Flank	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACACTCTTAGCGGTGGCTAGA	0.458																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(82-84)Gct>Act		microfibrillar-associated protein 3-like							105.0	104.0	104.0					4																	170926947		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170926947C>T	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.82G>A	4.37:g.170926947C>T	ENSP00000354583:p.Ala28Thr					MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T|MFAP3L_ENST00000393702.3_Missense_Mutation_p.A28T	p.A28T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	389	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	28					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.82G>A	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491441	0.44249	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.88431	-1.83;-2.38;-2.38;-2.37;-2.05	5.58	4.74	0.60224	.	0.260548	0.38381	N	0.001701	D	0.85137	0.5628	M	0.64997	1.995	0.34562	D	0.712501	P	0.50710	0.938	B	0.35607	0.206	D	0.88835	0.3308	10	0.38643	T	0.18	0.1232	14.6576	0.68844	0.1455:0.8545:0.0:0.0	.	28	O75121	MFA3L_HUMAN	T	28	ENSP00000354583:A28T;ENSP00000377305:A28T;ENSP00000422571:A28T;ENSP00000425303:A28T;ENSP00000426247:A28T	ENSP00000354583:A28T	A	-	1	0	MFAP3L	171163522	1.000000	0.71417	0.143000	0.22291	0.001000	0.01503	3.465000	0.53064	1.487000	0.48415	-0.152000	0.13540	GCT		0.458	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		24	290	0	0	0	1	0	24	290				
CSMD3	114788	broad.mit.edu	37	8	113518958	113518958	+	Silent	SNP	G	G	A	rs139092367	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113518958G>A	ENST00000297405.5	-	29	5101	c.4857C>T	c.(4855-4857)acC>acT	p.T1619T	CSMD3_ENST00000455883.2_Silent_p.T1515T|CSMD3_ENST00000343508.3_Silent_p.T1579T|CSMD3_ENST00000352409.3_Silent_p.T1619T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1619	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCATTGACGGTGATAGTCC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	7	0.00139776	0.0053	0.0	5008	,	,		15666	0.0		0.0	False		,,,				2504	0.0					ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4855-4857)acC>acT		CUB and Sushi multiple domains 3		G	,,	23,4383	29.9+/-59.1	0,23,2180	148.0	138.0	141.0		4545,4857,4737	-10.0	0.0	8	dbSNP_134	141	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,23,6480	AA,AG,GG		0.0,0.522,0.1768	,,	1515/3539,1619/3708,1579/3668	113518958	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113518958G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4857C>T	8.37:g.113518958G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.T1579T|CSMD3_ENST00000455883.2_Silent_p.T1515T|CSMD3_ENST00000352409.3_Silent_p.T1619T	p.T1619T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			29	5101	-			1619			CUB 9.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4857C>T	CCDS6315.1																																																																																				0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		79	404	0	0	0	1	0	79	404				
TPST1	8460	broad.mit.edu	37	7	65706099	65706099	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65706099T>C	ENST00000304842.5	+	2	1112	c.687T>C	c.(685-687)gtT>gtC	p.V229V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	229					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTATGGAGGTTGGTTATAAAA	0.403																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(685-687)gtT>gtC		tyrosylprotein sulfotransferase 1							120.0	101.0	107.0					7																	65706099		2203	4300	6503	SO:0001819	synonymous_variant	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65706099T>C	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.687T>C	7.37:g.65706099T>C						TPST1_ENST00000480281.1_Intron	p.V229V	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	1112	+			229					A4D2M0|Q6FGM7	Silent	SNP	ENST00000304842.5	37	c.687T>C	CCDS5533.1																																																																																				0.403	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		10	283	0	0	0	1	0	10	283				
ZNF385B	151126	broad.mit.edu	37	2	180308082	180308082	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180308082G>T	ENST00000410066.1	-	10	1914	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ZNF385B_ENST00000409343.1_Silent_p.P361P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000336917.5_Silent_p.P335P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	437	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGAGGCAGAGGGCCGGGGTG	0.642																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(1309-1311)ccC>ccA		zinc finger protein 385B							26.0	35.0	32.0					2																	180308082		2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180308082G>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1311C>A	2.37:g.180308082G>T						ZNF385B_ENST00000336917.5_Silent_p.P335P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000409343.1_Silent_p.P361P	p.P437P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		10	1914	-			437					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.1311C>A	CCDS33339.1																																																																																				0.642	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		24	152	1	0	3.08376e-08	1	3.21767e-08	24	152				
C2CD5	9847	broad.mit.edu	37	12	22602810	22602810	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22602810T>G	ENST00000333957.4	-	25	3142	c.2887A>C	c.(2887-2889)Aat>Cat	p.N963H	C2CD5_ENST00000545552.1_Missense_Mutation_p.N1017H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N1016H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N1005H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N819H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	963					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CCACTTACATTTATAAGACAC	0.423																																						ENST00000333957.4																			0											c.(2887-2889)Aat>Cat		C2 calcium-dependent domain containing 5							174.0	146.0	155.0					12																	22602810		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22602810T>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2887A>C	12.37:g.22602810T>G	ENSP00000334229:p.Asn963His					C2CD5_ENST00000545552.1_Missense_Mutation_p.N1017H|C2CD5_ENST00000544930.1_Missense_Mutation_p.N819H|C2CD5_ENST00000542676.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000446597.1_Missense_Mutation_p.N1014H|C2CD5_ENST00000536386.1_Missense_Mutation_p.N1016H|C2CD5_ENST00000396028.2_Missense_Mutation_p.N1005H	p.N963H	NM_014802.1	NP_055617.1					25	3142	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2887A>C	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.711795|3.711795	0.68730|0.68730	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.66460|.	-0.21;-0.18;-0.19;-0.18;-0.18;-0.16|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60932|.	0.2307|.	L|L	0.46157|0.46157	1.445|1.445	0.53005|0.53005	D|D	0.999969|0.999969	P;P;D;D;P|.	0.89917|.	0.775;0.618;0.958;1.0;0.578|.	P;B;P;D;B|.	0.91635|.	0.481;0.207;0.869;0.999;0.159|.	T|.	0.59156|.	-0.7507|.	10|.	0.49607|.	T|.	0.09|.	-22.3249|-22.3249	14.2395|14.2395	0.65948|0.65948	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1016;1014;819;1005;963|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	H|Y	963;1014;1016;1005;1014;1017;819|263	ENSP00000334229:N963H;ENSP00000388756:N1014H;ENSP00000439392:N1016H;ENSP00000379345:N1005H;ENSP00000441951:N1014H;ENSP00000443204:N1017H|.	ENSP00000334229:N963H|.	N|X	-|-	1|3	0|2	KIAA0528|KIAA0528	22494077|22494077	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.910000|0.910000	0.53928|0.53928	6.748000|6.748000	0.74877|0.74877	1.990000|1.990000	0.58119|0.58119	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.423	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		101	427	0	0	0	1	0	101	427				
SYVN1	84447	broad.mit.edu	37	11	64896065	64896065	+	Missense_Mutation	SNP	G	G	T	rs373881281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64896065G>T	ENST00000377190.3	-	15	1811	c.1717C>A	c.(1717-1719)Cca>Aca	p.P573T	SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Missense_Mutation_p.P572T|SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	573					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGGCTGGTGGGGAGGCTCCT	0.602																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1714-1716)Cca>Aca		synovial apoptosis inhibitor 1, synoviolin							43.0	51.0	48.0					11																	64896065		2201	4297	6498	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64896065G>T	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1717C>A	11.37:g.64896065G>T	ENSP00000366395:p.Pro573Thr					SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T|SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T|SYVN1_ENST00000377190.3_Missense_Mutation_p.P573T	p.P572T			Q86TM6	SYVN1_HUMAN			15	1906	-			573					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.1714C>A	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	g	3.476	-0.106889	0.06924	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000307289;ENST00000526060	T;T;T;T	0.08896	3.04;3.05;3.22;3.05	4.73	0.831	0.18860	.	0.817568	0.11036	N	0.606679	T	0.05090	0.0136	N	0.19112	0.55	0.31228	N	0.696704	B;B;B	0.15930	0.015;0.015;0.009	B;B;B	0.24974	0.057;0.057;0.026	T	0.46247	-0.9205	10	0.11182	T	0.66	-0.2177	6.6834	0.23132	0.3835:0.0:0.6165:0.0	.	521;572;573	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	T	573;572;521;572	ENSP00000366395:P573T;ENSP00000294256:P572T;ENSP00000302035:P521T;ENSP00000436984:P572T	ENSP00000294256:P572T	P	-	1	0	SYVN1	64652641	0.947000	0.32204	0.995000	0.50966	0.684000	0.39900	0.189000	0.17037	0.000000	0.14550	0.550000	0.68814	CCA		0.602	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		18	410	1	0	4.96729e-08	1	5.17613e-08	18	410				
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595854G>A	ENST00000373993.1	-	4	628	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000374001.2_Missense_Mutation_p.A195V|A1CF_ENST00000395489.2_Missense_Mutation_p.A188V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488																																						ENST00000395489.2																			4	Substitution - Missense(4)	p.A203V(2)|p.A195V(2)	lung(2)|breast(2)	NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(562-564)gCg>gTg		APOBEC1 complementation factor							106.0	96.0	100.0					10																	52595854		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595854G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.584C>T	10.37:g.52595854G>A	ENSP00000363105:p.Ala195Val					A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V	p.A188V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	959	-			195			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.563C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550854	0.86127	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.04	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046025	0.85682	D	0.000000	T	0.64616	0.2614	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.993;0.998	D;P;P;P	0.64042	0.921;0.893;0.73;0.888	T	0.71255	-0.4647	10	0.87932	D	0	-9.2963	16.5645	0.84575	0.0:0.1418:0.8582:0.0	.	188;195;195;203	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	195;195;195;203;195;195;178;188;195	ENSP00000363113:A195V;ENSP00000363105:A195V;ENSP00000363109:A195V;ENSP00000363107:A203V;ENSP00000282641:A195V;ENSP00000378873:A195V;ENSP00000378868:A188V;ENSP00000397953:A195V	ENSP00000282641:A195V	A	-	2	0	A1CF	52265860	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.811000	0.86092	2.873000	0.98535	0.563000	0.77884	GCG		0.488	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		39	416	0	0	0	1	0	39	416				
COMP	1311	broad.mit.edu	37	19	18901372	18901372	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901372G>A	ENST00000222271.2	-	3	260	c.216C>T	c.(214-216)tgC>tgT	p.C72C	COMP_ENST00000542601.2_Splice_Site_p.C39C|COMP_ENST00000425807.1_Splice_Site_p.C72C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	72	COMP N-terminal.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGCTCACCGCACGCGTCAC	0.612																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.e2+1		cartilage oligomeric matrix protein							196.0	209.0	204.0					19																	18901372		2203	4300	6503	SO:0001630	splice_region_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18901372G>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.217+1C>T	19.37:g.18901372G>A						COMP_ENST00000425807.1_Splice_Site_p.C72_splice|COMP_ENST00000222271.2_Splice_Site_p.C72_splice	p.C39_splice			P49747	COMP_HUMAN			2	506	-			72			COMP N-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Splice_Site	SNP	ENST00000222271.2	37	c.118_splice	CCDS12385.1																																																																																				0.612	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095	Silent	305	1605	0	0	0	1	0	305	1605				
PHTF1	10745	broad.mit.edu	37	1	114255905	114255905	+	Missense_Mutation	SNP	C	C	T	rs371523931		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114255905C>T	ENST00000369604.1	-	8	1262	c.779G>A	c.(778-780)cGt>cAt	p.R260H	PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	260					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTACCCTACGGCACTTTTC	0.358																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(778-780)cGt>cAt		putative homeodomain transcription factor 1		C	HIS/ARG	0,4406		0,0,2203	146.0	146.0	146.0		779	-0.9	0.0	1		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHTF1	NM_006608.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	260/763	114255905	1,13005	2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114255905C>T	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.779G>A	1.37:g.114255905C>T	ENSP00000358617:p.Arg260His					PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000474926.1_5'UTR	p.R260H			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1262	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	260					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.779G>A	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.401|9.401	1.077906|1.077906	0.20227|0.20227	0.0|0.0	1.16E-4|1.16E-4	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.55|5.55	-0.91|-0.91	0.10511|0.10511	.|.	0.913966|.	0.09577|.	N|.	0.783441|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.04508|0.04508	-0.205|-0.205	0.19575|0.19575	N|N	0.999967|0.999967	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001|.	T|T	0.41963|0.41963	-0.9479|-0.9479	9|5	0.27082|.	T|.	0.32|.	-0.2427|-0.2427	6.2443|6.2443	0.20807|0.20807	0.0:0.2247:0.1549:0.6204|0.0:0.2247:0.1549:0.6204	.|.	215;260;15;260|.	F5H7M5;Q9UMS5;Q5TCR1;Q9UMS5-2|.	.;PHTF1_HUMAN;.;.|.	H|I	215;260;207;215;207;260;260|16	.|.	ENSP00000350428:R260H|.	R|V	-|-	2|1	0|0	PHTF1|PHTF1	114057428|114057428	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.939000|0.939000	0.58152|0.58152	-0.664000|-0.664000	0.05292|0.05292	-0.036000|-0.036000	0.13669|0.13669	0.467000|0.467000	0.42956|0.42956	CGT|GTA		0.358	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		58	425	0	0	0	1	0	58	425				
AC002472.1	0	broad.mit.edu	37	22	21363184	21363184	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21363184C>T	ENST00000547793.2	-	0	0				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000452284.1_RNA																							ATGCAGCAGGCCATGTACTTG	0.572																																						ENST00000452284.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr22:21363184C>T																													22.37:g.21363184C>T	Exception_encountered					THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA		NR_027051.1						0	851	+									RNA	SNP	ENST00000547793.2	37																																																																																						0.572	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				66	339	0	0	0	1	0	66	339				
DENND4A	10260	broad.mit.edu	37	15	66007885	66007885	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66007885G>T	ENST00000431932.2	-	14	2092	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L	DENND4A_ENST00000443035.3_Missense_Mutation_p.F628L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	628	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTCTTCAATGAAGCGAATAA	0.338																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1882-1884)ttC>ttA		DENN/MADD domain containing 4A							80.0	73.0	75.0					15																	66007885		1829	4084	5913	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66007885G>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1884C>A	15.37:g.66007885G>T	ENSP00000396830:p.Phe628Leu					DENND4A_ENST00000431932.2_Missense_Mutation_p.F628L	p.F628L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			14	2099	-			628			dDENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.1884C>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583130	0.86748	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.72167	-0.63;-0.63	5.41	3.51	0.40186	dDENN (3);	0.092891	0.85682	D	0.000000	D	0.83704	0.5312	M	0.87682	2.9	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.99;0.998;0.995	D	0.85024	0.0913	10	0.87932	D	0	.	9.3824	0.38322	0.2213:0.0:0.7787:0.0	.	628;628;628	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	L	628	ENSP00000391167:F628L;ENSP00000396830:F628L	ENSP00000396830:F628L	F	-	3	2	DENND4A	63794939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.552000	0.53705	1.264000	0.44198	0.591000	0.81541	TTC		0.338	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		16	73	1	0	6.31663e-08	1	6.57865e-08	16	73				
CHFR	55743	broad.mit.edu	37	12	133428227	133428227	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133428227T>C	ENST00000432561.2	-	12	1578	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	CHFR_ENST00000266880.7_Missense_Mutation_p.D501G|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.D410G|CHFR_ENST00000450056.2_Missense_Mutation_p.D490G|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000315585.7_Missense_Mutation_p.D461G			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	502					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GACACGCGGGTCCTGCTCGCG	0.657																																						ENST00000266880.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1501-1503)gAc>gGc		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase							81.0	87.0	85.0					12																	133428227		2203	4300	6503	SO:0001583	missense	0				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133428227T>C	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1505A>G	12.37:g.133428227T>C	ENSP00000392395:p.Asp502Gly					CHFR_ENST00000315585.7_Missense_Mutation_p.D461G|CHFR_ENST00000450056.2_Missense_Mutation_p.D490G|CHFR_ENST00000432561.2_Missense_Mutation_p.D502G|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000443047.2_Missense_Mutation_p.D410G|CHFR_ENST00000541837.2_5'UTR	p.D501G			Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	13	1565	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	502					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.1502A>G	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	T	7.948	0.744314	0.15710	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.93	3.6	0.41247	.	0.444283	0.27035	N	0.021257	T	0.23926	0.0579	L	0.40543	1.245	0.32812	D	0.501575	P;B;B;B;B	0.35575	0.51;0.071;0.042;0.071;0.029	B;B;B;B;B	0.36567	0.228;0.167;0.08;0.167;0.096	T	0.25433	-1.0132	10	0.20519	T	0.43	-17.3777	10.1814	0.42970	0.0:0.1336:0.0:0.8664	.	410;501;502;490;461	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	G	461;410;490;501;124;302;502	ENSP00000320557:D461G;ENSP00000416431:D410G;ENSP00000398735:D490G;ENSP00000266880:D501G;ENSP00000442327:D124G;ENSP00000392395:D502G	ENSP00000266880:D501G	D	-	2	0	CHFR	131938300	1.000000	0.71417	0.994000	0.49952	0.041000	0.13682	2.505000	0.45424	0.513000	0.28278	-0.250000	0.11733	GAC		0.657	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			49	1007	0	0	0	1	0	49	1007				
DZIP3	9666	broad.mit.edu	37	3	108381086	108381086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108381086G>A	ENST00000361582.3	+	21	2635	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	802					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G802E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCTTTTGGAATCAATAAG	0.333																																						ENST00000361582.3																			1	Substitution - Missense(1)	p.G802E(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2404-2406)gGa>gAa		DAZ interacting zinc finger protein 3							50.0	51.0	50.0					3																	108381086		2202	4300	6502	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108381086G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2405G>A	3.37:g.108381086G>A	ENSP00000355028:p.Gly802Glu					DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	p.G802E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			21	2635	+			802					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2405G>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659901	0.67586	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83419	-1.72;-1.72	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000085	D	0.86760	0.6010	L	0.47716	1.5	0.40099	D	0.976346	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.83365	0.0004	10	0.20519	T	0.43	-18.2322	13.8682	0.63600	0.0:0.0:1.0:0.0	.	420;802	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	802	ENSP00000355028:G802E;ENSP00000419981:G802E	ENSP00000355028:G802E	G	+	2	0	DZIP3	109863776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.235000	0.58666	2.644000	0.89710	0.563000	0.77884	GGA		0.333	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		16	108	0	0	0	1	0	16	108				
FAT2	2196	broad.mit.edu	37	5	150930355	150930355	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930355G>T	ENST00000261800.5	-	7	4386	c.4374C>A	c.(4372-4374)ccC>ccA	p.P1458P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1458	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGTGTCCTGGGGAACTCTGA	0.527																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4372-4374)ccC>ccA		FAT atypical cadherin 2							92.0	85.0	87.0					5																	150930355		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150930355G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4374C>A	5.37:g.150930355G>T							p.P1458P	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	4386	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1458			Cadherin 13.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.4374C>A	CCDS4317.1																																																																																				0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		36	168	1	0	9.65963e-10	1	1.01978e-09	36	168				
KRT13	3860	broad.mit.edu	37	17	39659314	39659314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39659314C>T	ENST00000246635.3	-	4	818	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.V258I|KRT13_ENST00000336861.3_Missense_Mutation_p.V258I|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	258	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCCACGTTGACCTGGCCGACC	0.592																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(772-774)Gtc>Atc		keratin 13							222.0	213.0	216.0					17																	39659314		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659314C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.772G>A	17.37:g.39659314C>T	ENSP00000246635:p.Val258Ile					KRT13_ENST00000336861.3_Missense_Mutation_p.V258I|KRT13_ENST00000587544.1_Missense_Mutation_p.V258I	p.V258I	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			4	818	-		Breast(137;0.000286)	258			Linker 12.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.772G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750126	0.69533	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.77620	-1.11;-1.11	4.32	4.32	0.51571	Filament (1);	0.000000	0.40818	N	0.001011	D	0.84092	0.5396	M	0.72894	2.215	0.48571	D	0.999675	P;P;P;P	0.40376	0.458;0.715;0.668;0.715	P;P;P;P	0.51415	0.54;0.669;0.54;0.669	D	0.85052	0.0929	10	0.48119	T	0.1	.	17.3545	0.87332	0.0:1.0:0.0:0.0	.	246;258;258;258	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	I	258;258;246	ENSP00000246635:V258I;ENSP00000336604:V258I	ENSP00000157775:V246I	V	-	1	0	KRT13	36912840	0.997000	0.39634	1.000000	0.80357	0.673000	0.39480	3.605000	0.54088	2.401000	0.81631	0.561000	0.74099	GTC		0.592	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		22	1723	0	0	0	1	0	22	1723				
ADAM17	6868	broad.mit.edu	37	2	9658104	9658104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9658104C>T	ENST00000310823.3	-	10	1299	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TTCTTCCCAACTGGGCTATAA	0.289																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(1117-1119)Gtt>Att		ADAM metallopeptidase domain 17							60.0	68.0	65.0					2																	9658104		2196	4292	6488	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9658104C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1117G>A	2.37:g.9658104C>T	ENSP00000309968:p.Val373Ile						p.V373I	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	10	1299	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		373			Peptidase M12B.		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.1117G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	7.942	0.742956	0.15642	.	.	ENSG00000151694	ENST00000310823	D	0.86432	-2.12	6.17	-2.53	0.06326	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	1.724310	0.02114	N	0.055067	T	0.73321	0.3572	N	0.16266	0.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56757	-0.7926	10	0.27082	T	0.32	.	0.8013	0.01075	0.2124:0.162:0.3155:0.31	.	373;373	B2RNB2;P78536	.;ADA17_HUMAN	I	373	ENSP00000309968:V373I	ENSP00000309968:V373I	V	-	1	0	ADAM17	9575555	0.000000	0.05858	0.031000	0.17742	0.954000	0.61252	-1.130000	0.03241	-0.426000	0.07360	-0.137000	0.14449	GTT		0.289	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			111	359	0	0	0	1	0	111	359				
PAK7	57144	broad.mit.edu	37	20	9538310	9538310	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9538310C>A	ENST00000378429.3	-	8	2234	c.1688G>T	c.(1687-1689)gGa>gTa	p.G563V	PAK7_ENST00000353224.5_Missense_Mutation_p.G563V|PAK7_ENST00000378423.1_Missense_Mutation_p.G563V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTGAATCACTCCTTGGTTATG	0.438																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1687-1689)gGa>gTa		p21 protein (Cdc42/Rac)-activated kinase 7							144.0	123.0	130.0					20																	9538310		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9538310C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1688G>T	20.37:g.9538310C>A	ENSP00000367686:p.Gly563Val					PAK7_ENST00000378423.1_Missense_Mutation_p.G563V|PAK7_ENST00000353224.5_Missense_Mutation_p.G563V	p.G563V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		8	2234	-			563			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1688G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047858	0.93740	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.16897	2.31;2.31;2.31	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70992	-0.4721	9	.	.	.	.	19.8171	0.96573	0.0:1.0:0.0:0.0	.	563;563	B0AZM9;Q9P286	.;PAK7_HUMAN	V	563;563;563;511	ENSP00000367686:G563V;ENSP00000322957:G563V;ENSP00000367679:G563V	.	G	-	2	0	PAK7	9486310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.678000	0.91216	0.643000	0.83706	GGA		0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			76	311	1	0	1.03218e-28	1	1.20291e-28	76	311				
CIT	11113	broad.mit.edu	37	12	120139738	120139738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120139738C>T	ENST00000261833.7	-	41	5256	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N	CIT_ENST00000392521.2_Missense_Mutation_p.S1777N|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1735	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTGGATACAGCTGCAGGGCTC	0.498																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5329-5331)aGc>aAc		citron (rho-interacting, serine/threonine kinase 21)							144.0	138.0	140.0					12																	120139738		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120139738C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5204G>A	12.37:g.120139738C>T	ENSP00000261833:p.Ser1735Asn					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.S1735N	p.S1777N	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	42	5385	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1735			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.5330G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632957|4.632957	0.87660|0.87660	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05258	.|3.47;3.47	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Citron-like (3);	.|0.047784	.|0.85682	.|D	.|0.000000	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.999;0.991;0.708	.|D;D;B	.|0.83275	.|0.996;0.988;0.425	T|T	0.00250|0.00250	-1.1878|-1.1878	5|10	.|0.34782	.|T	.|0.22	.|.	19.7849|19.7849	0.96432|0.96432	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1777;1735;1253	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|N	1348|1777;1735	.|ENSP00000376306:S1777N;ENSP00000261833:S1735N	.|ENSP00000261833:S1735N	A|S	-|-	1|2	0|0	CIT|CIT	118624121|118624121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.671000|2.671000	0.90904|0.90904	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.498	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		123	430	0	0	0	1	0	123	430				
CDC20B	166979	broad.mit.edu	37	5	54416252	54416252	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54416252C>T	ENST00000381375.2	-	10	1487		c.e10+1		CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Splice_Site			Q86Y33	CD20B_HUMAN	cell division cycle 20B											kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GAGATATTAACCTGTGAGTTT	0.448																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.e11+1		cell division cycle 20B							168.0	159.0	162.0					5																	54416252		2203	4300	6503	SO:0001630	splice_region_variant	166979							g.chr5:54416252C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1341+1G>A	5.37:g.54416252C>T						CDC20B_ENST00000381375.2_Splice_Site|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Splice_Site				Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		11	1604	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)						B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Splice_Site	SNP	ENST00000381375.2	37		CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232330	0.79688	.	.	ENSG00000164287	ENST00000296733;ENST00000381375	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.586	0.87981	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC20B	54452009	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.747000	0.68689	2.556000	0.86216	0.655000	0.94253	.		0.448	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	Intron	93	424	0	0	0	1	0	93	424				
ADCY8	114	broad.mit.edu	37	8	131859759	131859759	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131859759G>A	ENST00000286355.5	-	11	4505	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	805					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACACCACAGCTGCGGATTa	0.388										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.e11-1		adenylate cyclase 8 (brain)							46.0	47.0	47.0					8																	131859759		2203	4300	6503	SO:0001630	splice_region_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131859759G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2413-1C>T	8.37:g.131859759G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.L805_splice	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		11	4505	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		805						Splice_Site	SNP	ENST00000286355.5	37	c.2412_splice	CCDS6363.1																																																																																				0.388	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		Silent	15	61	0	0	0	1	0	15	61				
FAT1	2195	broad.mit.edu	37	4	187539140	187539140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539140C>T	ENST00000441802.2	-	10	8809	c.8600G>A	c.(8599-8601)gGc>gAc	p.G2867D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2867	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTAATCCAGCCTGTTTCCAT	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8599-8601)gGc>gAc		FAT atypical cadherin 1							161.0	143.0	149.0					4																	187539140		1938	4159	6097	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539140C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8600G>A	4.37:g.187539140C>T	ENSP00000406229:p.Gly2867Asp	HNSCC(5;0.00058)					p.G2867D	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8809	-			2867			Cadherin 26.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8600G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181797	0.78677	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.57273	0.41	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87138	0.2201	10	0.87932	D	0	.	18.5503	0.91062	0.0:1.0:0.0:0.0	.	2867	Q14517	FAT1_HUMAN	D	2867;2869	ENSP00000406229:G2867D	ENSP00000260147:G2869D	G	-	2	0	FAT1	187776134	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.651000	0.83577	2.682000	0.91365	0.650000	0.86243	GGC		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		53	218	0	0	0	1	0	53	218				
MED29	55588	broad.mit.edu	37	19	39884197	39884197	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39884197A>G	ENST00000599213.2	+	3	307	c.280A>G	c.(280-282)Agc>Ggc	p.S94G	PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.S94G|MED29_ENST00000315588.5_Missense_Mutation_p.S115G|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGTAGAAAGAGCAGTGATGG	0.473																																						ENST00000315588.5																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(343-345)Agc>Ggc		mediator complex subunit 29							180.0	179.0	179.0					19																	39884197		2203	4300	6503	SO:0001583	missense	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39884197A>G	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.280A>G	19.37:g.39884197A>G	ENSP00000471802:p.Ser94Gly					MED29_ENST00000599213.2_Missense_Mutation_p.S94G|MED29_ENST00000594368.1_Missense_Mutation_p.S94G	p.S115G	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		3	392	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		94					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.343A>G		.	.	.	.	.	.	.	.	.	.	a	9.103	1.004571	0.19199	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.39	4.39	0.52855	.	0.099330	0.64402	D	0.000002	T	0.31979	0.0814	L	0.31065	0.9	0.28778	N	0.899981	P;B	0.36909	0.573;0.006	B;B	0.39706	0.307;0.005	T	0.15983	-1.0418	9	0.21540	T	0.41	-4.0518	11.6009	0.51001	1.0:0.0:0.0:0.0	.	94;115	Q9NX70;B4DUA7	MED29_HUMAN;.	G	115;33	.	ENSP00000314343:S115G	S	+	1	0	MED29	44576037	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	5.703000	0.68340	1.833000	0.53350	0.456000	0.33151	AGC		0.473	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		121	650	0	0	0	1	0	121	650				
EEF1A1	1915	broad.mit.edu	37	6	74228449	74228449	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74228449C>T	ENST00000316292.9	-	4	1735	c.744G>A	c.(742-744)ctG>ctA	p.L248L	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000331523.2_Silent_p.L248L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	248					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCTGGAGAGGCAGGCGCAAGG	0.483											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(742-744)ctG>ctA		eukaryotic translation elongation factor 1 alpha 1							132.0	133.0	133.0					6																	74228449		2203	4300	6503	SO:0001819	synonymous_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228449C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.744G>A	6.37:g.74228449C>T			OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Silent_p.L248L	p.L248L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			4	1735	-			248					P04719|P04720|Q6IQ15	Silent	SNP	ENST00000316292.9	37	c.744G>A	CCDS4980.1																																																																																				0.483	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		73	306	0	0	0	1	0	73	306				
SNX32	254122	broad.mit.edu	37	11	65620368	65620368	+	Missense_Mutation	SNP	G	G	A	rs138424932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65620368G>A	ENST00000308342.6	+	12	1522	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	366					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AAGTCCCGCCGGGTCTCCTCT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14681	0.0		0.0	False		,,,				2504	0.001					ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1096-1098)cGg>cAg		sorting nexin 32		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	86.0	91.0	89.0		1097	3.4	0.0	11	dbSNP_134	89	1,8593		0,1,4296	yes	missense	SNX32	NM_152760.2	43	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	366/404	65620368	2,12994	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65620368G>A	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1097G>A	11.37:g.65620368G>A	ENSP00000310620:p.Arg366Gln						p.R366Q	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	12	1522	+			366					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.1097G>A	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886891	0.91814	2.27E-4	1.16E-4	ENSG00000172803	ENST00000308342	T	0.41400	1.0	4.31	3.4	0.38934	.	0.337367	0.21484	N	0.073800	T	0.60971	0.2310	M	0.82193	2.58	0.34384	D	0.693416	D	0.69078	0.997	P	0.61477	0.889	T	0.74000	-0.3805	10	0.87932	D	0	-4.7579	9.9529	0.41649	0.0999:0.0:0.9001:0.0	.	366	Q86XE0	SNX32_HUMAN	Q	366	ENSP00000310620:R366Q	ENSP00000310620:R366Q	R	+	2	0	SNX32	65376944	1.000000	0.71417	0.045000	0.18777	0.981000	0.71138	6.924000	0.75823	1.045000	0.40225	0.561000	0.74099	CGG		0.637	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		113	553	0	0	0	1	0	113	553				
SLC25A24	29957	broad.mit.edu	37	1	108742604	108742604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:108742604T>C	ENST00000565488.1	-	1	376	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCCAGAGGGATGCCCAGGTTC	0.721																																						ENST00000565488.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(157-159)Atc>Gtc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24							16.0	21.0	19.0					1																	108742604		1991	4137	6128	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108742604T>C	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.157A>G	1.37:g.108742604T>C	ENSP00000457733:p.Ile53Val					RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	p.I53V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	1	376	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	53			EF-hand 1.		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.157A>G	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	T	6.544	0.468702	0.12461	.	.	ENSG00000085491	ENST00000264128	T	0.70986	-0.53	4.65	-4.12	0.03916	EF-hand-like domain (1);	0.297147	0.35739	N	0.003005	T	0.16769	0.0403	N	0.05510	-0.035	0.37003	D	0.895344	B	0.02656	0.0	B	0.04013	0.001	T	0.02498	-1.1150	10	0.10902	T	0.67	-3.313	3.5207	0.07741	0.3651:0.2173:0.0:0.4176	.	53	Q6NUK1	SCMC1_HUMAN	V	53	ENSP00000264128:I53V	ENSP00000264128:I53V	I	-	1	0	SLC25A24	108544127	0.987000	0.35691	0.827000	0.32855	0.003000	0.03518	-0.083000	0.11286	-0.563000	0.06078	-0.714000	0.03626	ATC		0.721	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		10	78	0	0	0	1	0	10	78				
PLAGL1	5325	broad.mit.edu	37	6	144263408	144263408	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263408T>G	ENST00000360537.2	-	5	2458	c.545A>C	c.(544-546)aAg>aCg	p.K182T	PLAGL1_ENST00000429150.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000354765.2_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	182					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CAGGAAGTCCTTGCATCCTGT	0.557											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2																			0				endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13						c.(544-546)aAg>aCg		pleiomorphic adenoma gene-like 1							99.0	89.0	92.0					6																	144263408		2203	4300	6503	SO:0001583	missense	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144263408T>G	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.545A>C	6.37:g.144263408T>G	ENSP00000353734:p.Lys182Thr		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000354765.2_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000429150.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T	p.K182T			Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	5	2458	-			182					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	c.545A>C	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560945	0.86335	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.88	5.88	0.94601	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.76300	0.3968	M	0.80847	2.515	0.52099	D	0.999948	D	0.89917	1.0	D	0.83275	0.996	T	0.80594	-0.1313	10	0.87932	D	0	-36.5868	15.4686	0.75422	0.0:0.0:0.0:1.0	.	182	Q9UM63	PLAL1_HUMAN	T	182;182;182;182;182;182;130;130;130;182;130	ENSP00000353734:K182T;ENSP00000346810:K182T;ENSP00000400929:K182T;ENSP00000398409:K182T;ENSP00000376125:K182T;ENSP00000400060:K182T;ENSP00000392418:K130T;ENSP00000376124:K130T;ENSP00000356544:K130T;ENSP00000356543:K182T;ENSP00000395960:K130T	ENSP00000346810:K182T	K	-	2	0	PLAGL1	144305101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.989000	0.88205	2.235000	0.73313	0.533000	0.62120	AAG		0.557	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			11	441	0	0	0	1	0	11	441				
COL22A1	169044	broad.mit.edu	37	8	139890402	139890402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139890402G>A	ENST00000303045.6	-	3	695	c.249C>T	c.(247-249)agC>agT	p.S83S	COL22A1_ENST00000435777.1_Silent_p.S83S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	83	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGGCCGGTCGCTGTAGCGCA	0.677										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(247-249)agC>agT		collagen, type XXII, alpha 1							15.0	18.0	17.0					8																	139890402		2200	4292	6492	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890402G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.249C>T	8.37:g.139890402G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.S83S	p.S83S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	695	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		83			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.249C>T	CCDS6376.1																																																																																				0.677	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		13	54	0	0	0	1	0	13	54				
TTN	7273	broad.mit.edu	37	2	179654143	179654143	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179654143T>C	ENST00000591111.1	-	13	2244	c.2020A>G	c.(2020-2022)Aga>Gga	p.R674G	TTN_ENST00000359218.5_Missense_Mutation_p.R628G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000589042.1_Missense_Mutation_p.R674G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000360870.5_Missense_Mutation_p.R674G			Q8WZ42	TITIN_HUMAN	titin	0					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)			TCTCTAGTTCTCAGTATTGTT	0.368																																						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.(2020-2022)Aga>Gga		titin							189.0	181.0	183.0					2																	179654143		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654143T>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.2020A>G	2.37:g.179654143T>C	ENSP00000465570:p.Arg674Gly					TTN_ENST00000360870.5_Missense_Mutation_p.R674G|TTN_ENST00000359218.5_Missense_Mutation_p.R628G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000591111.1_Missense_Mutation_p.R674G	p.R674G	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)		13	2244	-			674					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.2020A>G		.	.	.	.	.	.	.	.	.	.	T	12.20	1.866839	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.9	5.9	0.94986	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45438	0.1342	L	0.58810	1.83	0.23657	N	0.997182	B;B;B;B;B	0.21606	0.001;0.001;0.001;0.001;0.058	B;B;B;B;B	0.18561	0.007;0.007;0.007;0.007;0.022	T	0.44251	-0.9340	9	0.87932	D	0	.	10.0642	0.42292	0.0:0.0751:0.0:0.9249	.	628;628;628;674;674	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	674;628;628;628;628;674;178	ENSP00000343764:R674G;ENSP00000434586:R628G;ENSP00000340554:R628G;ENSP00000352154:R628G;ENSP00000354117:R674G;ENSP00000405517:R178G	ENSP00000340554:R628G	R	-	1	2	TTN	179362388	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	2.431000	0.44775	2.266000	0.75297	0.528000	0.53228	AGA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	440	0	0	0	1	0	79	440				
IVL	3713	broad.mit.edu	37	1	152883822	152883822	+	Missense_Mutation	SNP	G	G	C	rs201247184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152883822G>C	ENST00000368764.3	+	2	1613	c.1549G>C	c.(1549-1551)Gac>Cac	p.D517H	IVL_ENST00000392667.2_Missense_Mutation_p.D371H			P07476	INVO_HUMAN	involucrin	517	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agagcagcaggacggacaact	0.607																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1549-1551)Gac>Cac		involucrin							92.0	85.0	88.0					1																	152883822		2203	4299	6502	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883822G>C	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1549G>C	1.37:g.152883822G>C	ENSP00000357753:p.Asp517His					IVL_ENST00000392667.2_Missense_Mutation_p.D371H	p.D517H			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1613	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		517			39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].		Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1549G>C	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732617	0.30684	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10573	3.03;2.86	3.39	3.39	0.38822	.	.	.	.	.	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.57009	0.811	T	0.36383	-0.9750	9	0.59425	D	0.04	.	10.9889	0.47539	0.0:0.0:1.0:0.0	.	517	P07476	INVO_HUMAN	H	517;371	ENSP00000357753:D517H;ENSP00000376435:D371H	ENSP00000357753:D517H	D	+	1	0	IVL	151150446	0.000000	0.05858	0.014000	0.15608	0.003000	0.03518	-0.443000	0.06862	1.853000	0.53794	0.563000	0.77884	GAC		0.607	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		26	70	0	0	0	1	0	26	70				
IST1	9798	broad.mit.edu	37	16	71950546	71950546	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71950546G>T	ENST00000378799.6	+	3	625		c.e3+1		IST1_ENST00000544564.1_Splice_Site|IST1_ENST00000606369.1_Intron|IST1_ENST00000541571.2_Splice_Site|IST1_ENST00000535424.1_Splice_Site|IST1_ENST00000378798.5_Splice_Site|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538565.1_Intron|IST1_ENST00000538850.1_Intron|IST1_ENST00000329908.8_Splice_Site			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										AGTCTATGAAGTAAGATATTT	0.443																																						ENST00000378799.6																			0											c.e3+1		increased sodium tolerance 1 homolog (yeast)							71.0	65.0	67.0					16																	71950546		2198	4300	6498	SO:0001630	splice_region_variant	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71950546G>T	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.269+1G>T	16.37:g.71950546G>T						IST1_ENST00000541571.2_Splice_Site|IST1_ENST00000538565.1_Intron|IST1_ENST00000535424.1_Splice_Site|IST1_ENST00000329908.8_Splice_Site|IST1_ENST00000538850.1_Intron|IST1_ENST00000544564.1_Splice_Site|IST1_ENST00000606369.1_Intron|RP11-498D10.4_ENST00000568581.1_Splice_Site|IST1_ENST00000378798.5_Splice_Site		NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN			3	625	+								A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Splice_Site	SNP	ENST00000378799.6	37		CCDS59272.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258884	0.80246	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000424485;ENST00000538963;ENST00000329908;ENST00000378798;ENST00000456820	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7108	0.91656	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0174	70508047	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.433000	0.82419	0.655000	0.94253	.		0.443	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761	Intron	52	218	1	0	1.38658e-30	1	1.62744e-30	52	218				
SCN2B	6327	broad.mit.edu	37	11	118039321	118039321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118039321G>A	ENST00000278947.5	-	2	457	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	72	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAGTTGTTGCACTCCTGGT	0.607																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(214-216)tgC>tgT		sodium channel, voltage-gated, type II, beta subunit							181.0	171.0	175.0					11																	118039321		2200	4296	6496	SO:0001819	synonymous_variant	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118039321G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.216C>T	11.37:g.118039321G>A							p.C72C	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	2	457	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	72			Ig-like C2-type.		O75302|Q9UNN3	Silent	SNP	ENST00000278947.5	37	c.216C>T	CCDS8390.1																																																																																				0.607	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		163	637	0	0	0	1	0	163	637				
ADCY7	113	broad.mit.edu	37	16	50348221	50348221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50348221G>A	ENST00000394697.2	+	24	3215	c.2875G>A	c.(2875-2877)Gcc>Acc	p.A959T	ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCGGCAGCATGCCCACATTGG	0.617																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(2875-2877)Gcc>Acc		adenylate cyclase 7	Bromocriptine(DB01200)						91.0	66.0	74.0					16																	50348221		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50348221G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2875G>A	16.37:g.50348221G>A	ENSP00000378187:p.Ala959Thr					ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T	p.A959T			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	24	3215	+		all_cancers(37;0.0127)	959			Guanylate cyclase 2.		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.2875G>A	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368059	0.24771	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.29397	1.57;1.57	4.95	1.89	0.25635	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.156878	0.29059	U	0.013273	T	0.19327	0.0464	N	0.25380	0.74	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.06826	-1.0805	10	0.20519	T	0.43	.	10.9179	0.47148	0.1706:0.0:0.8294:0.0	.	959	P51828	ADCY7_HUMAN	T	959	ENSP00000378187:A959T;ENSP00000254235:A959T	ENSP00000254235:A959T	A	+	1	0	ADCY7	48905722	0.997000	0.39634	0.324000	0.25361	0.928000	0.56348	3.267000	0.51577	0.278000	0.22164	0.650000	0.86243	GCC		0.617	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			33	241	0	0	0	1	0	33	241				
STOX1	219736	broad.mit.edu	37	10	70644062	70644062	+	Silent	SNP	G	G	A	rs373698908		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644062G>A	ENST00000298596.6	+	3	593	c.510G>A	c.(508-510)acG>acA	p.T170T	STOX1_ENST00000399169.4_Silent_p.T170T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	170						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCTGGGAACGCTGATTAAAG	0.333																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(508-510)acG>acA		storkhead box 1							96.0	89.0	91.0					10																	70644062		1876	4120	5996	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644062G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.510G>A	10.37:g.70644062G>A						STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Silent_p.T170T|STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T	p.T170T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	593	+			170					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.510G>A	CCDS41535.1																																																																																				0.333	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		39	516	0	0	0	1	0	39	516				
ADRBK2	157	broad.mit.edu	37	22	26107046	26107046	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26107046C>A	ENST00000324198.6	+	17	1599	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	469	AGC-kinase C-terminal.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACCCACCACCCTTGATTCCTC	0.463																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(1405-1407)ccC>ccA		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						189.0	143.0	159.0					22																	26107046		2203	4300	6503	SO:0001819	synonymous_variant	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26107046C>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1407C>A	22.37:g.26107046C>A							p.P469P	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			17	1599	+			469			AGC-kinase C-terminal.		Q9UGW9	Silent	SNP	ENST00000324198.6	37	c.1407C>A	CCDS13832.1																																																																																				0.463	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		11	141	1	0	0.000978159	1	0.000988919	11	141				
TBC1D2	55357	broad.mit.edu	37	9	101017623	101017623	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101017623G>A	ENST00000375064.1	-	1	239	c.201C>T	c.(199-201)cgC>cgT	p.R67R	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.R67R	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	67	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGAAGAACCAGCGGGATTTCC	0.582																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(199-201)cgC>cgT		TBC1 domain family, member 2							73.0	78.0	76.0					9																	101017623		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017623G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.201C>T	9.37:g.101017623G>A						TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Silent_p.R67R	p.R67R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	292	-		Myeloproliferative disorder(762;0.0255)	67			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.201C>T																																																																																					0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		63	334	0	0	0	1	0	63	334				
PLA2G4B	100137049	broad.mit.edu	37	15	42136770	42136770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42136770C>T	ENST00000452633.1	+	13	1333	c.981C>T	c.(979-981)tgC>tgT	p.C327C	PLA2G4B_ENST00000458483.1_Silent_p.C327C|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.C558C|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C|PLA2G4B_ENST00000542534.2_Silent_p.C558C			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	327	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCTTGGATTGCGTCTCCTACA	0.637																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1672-1674)tgC>tgT									82.0	82.0	82.0					15																	42136770		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42136770C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.981C>T	15.37:g.42136770C>T						JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.C327C|PLA2G4B_ENST00000452633.1_Silent_p.C327C	p.C558C	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			17	1683	+			327			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.1674C>T	CCDS45241.1																																																																																				0.637	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		43	538	0	0	0	1	0	43	538				
ARHGAP29	9411	broad.mit.edu	37	1	94639786	94639786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94639786C>T	ENST00000260526.6	-	23	3607	c.3425G>A	c.(3424-3426)cGg>cAg	p.R1142Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1142					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTGAAGACCGTCTCTCAGA	0.498																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3424-3426)cGg>cAg		Rho GTPase activating protein 29							140.0	126.0	131.0					1																	94639786		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94639786C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3425G>A	1.37:g.94639786C>T	ENSP00000260526:p.Arg1142Gln						p.R1142Q	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3607	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1142					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.3425G>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	9.637	1.137876	0.21123	.	.	ENSG00000137962	ENST00000260526	T	0.21734	1.99	5.49	4.58	0.56647	.	0.460547	0.16094	N	0.229933	T	0.06917	0.0176	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.08055	0.003	T	0.10405	-1.0631	10	0.37606	T	0.19	-1.3531	4.8628	0.13592	0.0:0.5952:0.162:0.2428	.	1142	Q52LW3	RHG29_HUMAN	Q	1142	ENSP00000260526:R1142Q	ENSP00000260526:R1142Q	R	-	2	0	ARHGAP29	94412374	0.985000	0.35326	0.982000	0.44146	0.058000	0.15608	1.674000	0.37544	1.333000	0.45449	0.591000	0.81541	CGG		0.498	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		14	441	0	0	0	1	0	14	441				
GABRA4	2557	broad.mit.edu	37	4	46930768	46930768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930768G>A	ENST00000264318.3	-	9	2121	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	380					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGGCATTTGTATTCTGAAA	0.308																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1138-1140)aCa>aTa		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						32.0	34.0	33.0					4																	46930768		2201	4295	6496	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930768G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1139C>T	4.37:g.46930768G>A	ENSP00000264318:p.Thr380Ile						p.T380I	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2121	-			380					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1139C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536456	0.13188	.	.	ENSG00000109158	ENST00000264318	D	0.85861	-2.04	5.61	3.89	0.44902	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.336666	0.12855	U	0.433617	T	0.78039	0.4221	L	0.40543	1.245	0.30491	N	0.771401	B	0.06786	0.001	B	0.10450	0.005	T	0.67499	-0.5655	10	0.20519	T	0.43	.	9.7323	0.40368	0.1585:0.0:0.8415:0.0	.	380	P48169	GBRA4_HUMAN	I	380	ENSP00000264318:T380I	ENSP00000264318:T380I	T	-	2	0	GABRA4	46625525	1.000000	0.71417	0.015000	0.15790	0.207000	0.24258	2.705000	0.47127	0.744000	0.32741	0.655000	0.94253	ACA		0.308	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			42	149	0	0	0	1	0	42	149				
IAPP	3375	broad.mit.edu	37	12	21526313	21526313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21526313C>A	ENST00000240652.3	+	2	164	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	SLCO1A2_ENST00000473830.1_Intron|IAPP_ENST00000542023.1_Missense_Mutation_p.L10I|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|SLCO1A2_ENST00000307378.6_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	10					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						GCAAGTATTTCTCATTGTGCT	0.358																																						ENST00000542023.1																			0				lung(3)	3						c.(28-30)Ctc>Atc		islet amyloid polypeptide	Perindopril(DB00790)						148.0	138.0	141.0					12																	21526313		2203	4300	6503	SO:0001583	missense	3375				apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr12:21526313C>A		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"""Endogenous ligands"""	5329	protein-coding gene	gene with protein product	"""amylin"""	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.28C>A	12.37:g.21526313C>A	ENSP00000240652:p.Leu10Ile					SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|IAPP_ENST00000240652.3_Missense_Mutation_p.L10I|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron	p.L10I			P10997	IAPP_HUMAN			2	129	+			10					Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	c.28C>A	CCDS8688.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567065	0.28003	.	.	ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000542023;ENST00000537593	T;T;T	0.81330	-1.47;-1.47;-1.48	5.77	1.83	0.25207	.	0.321986	0.27802	N	0.017788	T	0.65228	0.2671	.	.	.	0.09310	N	1	P	0.37441	0.595	B	0.34931	0.192	T	0.57533	-0.7795	9	0.48119	T	0.1	-8.54	3.3808	0.07254	0.1873:0.4984:0.0:0.3143	.	10	P10997	IAPP_HUMAN	I	10	ENSP00000437357:L10I;ENSP00000240652:L10I;ENSP00000445980:L10I	ENSP00000240652:L10I	L	+	1	0	IAPP	21417580	0.443000	0.25641	0.002000	0.10522	0.009000	0.06853	0.956000	0.29202	0.747000	0.32809	0.655000	0.94253	CTC		0.358	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		67	285	1	0	3.20846e-33	1	3.7991e-33	67	285				
SEL1L3	23231	broad.mit.edu	37	4	25806207	25806207	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25806207C>A	ENST00000399878.3	-	10	1854	c.1732G>T	c.(1732-1734)Gtc>Ttc	p.V578F	SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	578						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCATAAAAGACTGCAAGGTAG	0.423																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1732-1734)Gtc>Ttc		sel-1 suppressor of lin-12-like 3 (C. elegans)							70.0	66.0	67.0					4																	25806207		1922	4135	6057	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25806207C>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1732G>T	4.37:g.25806207C>A	ENSP00000382767:p.Val578Phe					SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F	p.V578F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			10	1854	-			578					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1732G>T	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141414	0.57044	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.55234	0.53;0.53;0.53	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.278006	0.40818	N	0.001003	T	0.71256	0.3318	M	0.64997	1.995	0.48762	D	0.999701	D	0.89917	1.0	D	0.83275	0.996	T	0.64466	-0.6401	10	0.29301	T	0.29	-31.0739	20.2822	0.98520	0.0:1.0:0.0:0.0	.	578	Q68CR1	SE1L3_HUMAN	F	578;543;425	ENSP00000382767:V578F;ENSP00000264868:V543F;ENSP00000425438:V425F	ENSP00000264868:V543F	V	-	1	0	SEL1L3	25415305	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.078000	0.57606	2.806000	0.96561	0.655000	0.94253	GTC		0.423	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		15	84	1	0	1.05317e-09	1	1.11087e-09	15	84				
KLHL32	114792	broad.mit.edu	37	6	97562152	97562152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97562152G>A	ENST00000369261.4	+	7	1484	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	374								p.R374H(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TATGACCCCCGCAGTAATTCC	0.567																																						ENST00000369261.4																			1	Substitution - Missense(1)	p.R374H(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1120-1122)cGc>cAc		kelch-like family member 32							59.0	56.0	57.0					6																	97562152		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97562152G>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1121G>A	6.37:g.97562152G>A	ENSP00000358265:p.Arg374His					KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H	p.R374H	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1484	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	374					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.1121G>A	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279969	0.95489	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.67865	-0.29;-0.29;-0.29	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.995;0.999	T	0.70920	-0.4741	10	0.34782	T	0.22	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	305;338;374;374	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	H	374;338;305	ENSP00000358265:R374H;ENSP00000440382:R338H;ENSP00000441527:R305H	ENSP00000358265:R374H	R	+	2	0	KLHL32	97668873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.763000	0.94921	0.655000	0.94253	CGC		0.567	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		31	166	0	0	0	1	0	31	166				
ALPP	250	broad.mit.edu	37	2	233244473	233244473	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244473G>T	ENST00000392027.2	+	5	753		c.e5-1		AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental						dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GACACCCTTAGGGAAGTCAGT	0.617																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.e5-1		alkaline phosphatase, placental							56.0	55.0	55.0					2																	233244473		2203	4300	6503	SO:0001630	splice_region_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244473G>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.485-1G>T	2.37:g.233244473G>T						AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	753	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)						P05188|P06861|Q53S78|Q96DB7	Splice_Site	SNP	ENST00000392027.2	37		CCDS2490.1	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017697	0.19355	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPP	232952717	1.000000	0.71417	0.871000	0.34182	0.139000	0.21198	5.970000	0.70431	1.289000	0.44618	0.298000	0.19748	.		0.617	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632	Intron	58	174	1	0	2.17126e-26	1	2.5019e-26	58	174				
TNXB	7148	broad.mit.edu	37	6	32064837	32064837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32064837C>T	ENST00000479795.1	-	3	933	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	TNXB_ENST00000375244.3_Missense_Mutation_p.V265M|TNXB_ENST00000375247.2_Missense_Mutation_p.V265M			P22105	TENX_HUMAN	tenascin XB	265	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTCACACACGCAGCGCCCA	0.667																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(793-795)Gtg>Atg		tenascin XB							44.0	51.0	48.0					6																	32064837		2188	4273	6461	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32064837C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.793G>A	6.37:g.32064837C>T	ENSP00000418248:p.Val265Met					TNXB_ENST00000375247.2_Missense_Mutation_p.V265M|TNXB_ENST00000479795.1_Missense_Mutation_p.V265M	p.V265M			P22105	TENX_HUMAN			3	994	-			265			EGF-like 4.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.793G>A		.	.	.	.	.	.	.	.	.	.	C	11.26	1.585053	0.28268	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11495	2.77;2.77;3.12	4.57	2.75	0.32379	.	0.466924	0.15993	N	0.234727	T	0.21227	0.0511	M	0.89095	3.005	0.23501	N	0.997549	D	0.89917	1.0	D	0.87578	0.998	T	0.04664	-1.0935	10	0.72032	D	0.01	.	7.1375	0.25537	0.0:0.7045:0.0:0.2955	.	265	P22105-3	.	M	265	ENSP00000364393:V265M;ENSP00000364396:V265M;ENSP00000418248:V265M	ENSP00000364393:V265M	V	-	1	0	TNXB	32172815	0.012000	0.17670	1.000000	0.80357	0.078000	0.17371	0.141000	0.16076	0.912000	0.36772	-0.140000	0.14226	GTG		0.667	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		32	151	0	0	0	1	0	32	151				
OR52B4	143496	broad.mit.edu	37	11	4389036	4389036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4389036G>T	ENST00000408920.2	-	1	580	c.490C>A	c.(490-492)Ctt>Att	p.L164I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	164					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTTTAAAAGAAATATGATA	0.353																																						ENST00000408920.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(490-492)Ctt>Att		olfactory receptor, family 52, subfamily B, member 4							63.0	61.0	62.0					11																	4389036		1822	4076	5898	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389036G>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.490C>A	11.37:g.4389036G>T	ENSP00000386160:p.Leu164Ile						p.L164I	NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	580	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	164					A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.490C>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.228910	0.22542	.	.	ENSG00000221996	ENST00000408920	T	0.00099	8.73	5.29	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000260	T	0.00412	0.0013	M	0.89601	3.045	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47381	-0.9122	10	0.87932	D	0	.	2.8409	0.05528	0.2182:0.1229:0.5331:0.1258	.	164	Q8NGK2	O52B4_HUMAN	I	164	ENSP00000386160:L164I	ENSP00000386160:L164I	L	-	1	0	OR52B4	4345612	0.017000	0.18338	0.330000	0.25442	0.003000	0.03518	0.641000	0.24720	0.390000	0.25115	-0.140000	0.14226	CTT		0.353	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		76	365	1	0	3.4779e-39	1	4.20191e-39	76	365				
HUS1B	135458	broad.mit.edu	37	6	656306	656306	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656306C>T	ENST00000380907.2	-	1	657	c.639G>A	c.(637-639)tcG>tcA	p.S213S	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	213					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CACCCACAGCCGACTGGGGAG	0.502																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(637-639)tcG>tcA		HUS1 checkpoint homolog b (S. pombe)							119.0	130.0	126.0					6																	656306		2203	4300	6503	SO:0001819	synonymous_variant	135458							g.chr6:656306C>T	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.639G>A	6.37:g.656306C>T						EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.S213S	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	657	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	213					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.639G>A	CCDS4470.1																																																																																				0.502	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		185	779	0	0	0	1	0	185	779				
ARHGEF17	9828	broad.mit.edu	37	11	73020891	73020891	+	Missense_Mutation	SNP	A	A	T	rs149459553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73020891A>T	ENST00000263674.3	+	1	1558	c.1208A>T	c.(1207-1209)gAc>gTc	p.D403V	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	403					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGGACGACGACCTATGGTCT	0.657																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1207-1209)gAc>gTc		Rho guanine nucleotide exchange factor (GEF) 17																																				SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020891A>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1208A>T	11.37:g.73020891A>T	ENSP00000263674:p.Asp403Val						p.D403V	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1558	+			403					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1208A>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574003	0.45902	.	.	ENSG00000110237	ENST00000263674	T	0.67171	-0.25	4.32	4.32	0.51571	.	0.163752	0.29246	N	0.012717	T	0.59018	0.2163	L	0.27053	0.805	0.58432	D	0.999999	P	0.41748	0.761	P	0.46585	0.521	T	0.63651	-0.6589	10	0.87932	D	0	-12.0854	9.8212	0.40883	1.0:0.0:0.0:0.0	.	403	Q96PE2	ARHGH_HUMAN	V	403	ENSP00000263674:D403V	ENSP00000263674:D403V	D	+	2	0	ARHGEF17	72698539	1.000000	0.71417	0.912000	0.35992	0.766000	0.43426	6.063000	0.71162	1.821000	0.53095	0.379000	0.24179	GAC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		61	267	0	0	0	1	0	61	267				
STXBP5	134957	broad.mit.edu	37	6	147636794	147636794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147636794C>A	ENST00000321680.6	+	15	1546	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M|STXBP5_ENST00000367481.3_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	516					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAGTAGAATGCTGTGCATCGC	0.388																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1546-1548)Ctg>Atg		syntaxin binding protein 5 (tomosyn)							160.0	151.0	154.0					6																	147636794		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147636794C>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1546C>A	6.37:g.147636794C>A	ENSP00000321826:p.Leu516Met					STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M|STXBP5_ENST00000321680.6_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M	p.L516M	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	15	1654	+		Ovarian(120;0.0164)	516					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1546C>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966391	0.74131	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.74737	0.77;0.77;-0.87;-0.78	5.78	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.997	T	0.83308	-0.0024	10	0.54805	T	0.06	.	12.5036	0.55970	0.0:0.8648:0.0:0.1352	.	516;516;187	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	M	516;516;516;187	ENSP00000356451:L516M;ENSP00000321826:L516M;ENSP00000356450:L516M;ENSP00000179882:L187M	ENSP00000179882:L187M	L	+	1	2	STXBP5	147678487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.987000	0.40687	0.802000	0.34089	0.563000	0.77884	CTG		0.388	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			102	428	1	0	3.80994e-63	1	4.80671e-63	102	428				
NR0B1	190	broad.mit.edu	37	X	30327309	30327309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30327309G>A	ENST00000378970.4	-	1	406	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	58	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCACGTTCCGCCCGCCCAGC	0.662																																						ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(172-174)Cgg>Tgg		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						18.0	16.0	17.0					X																	30327309		2188	4279	6467	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327309G>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.172C>T	X.37:g.30327309G>A	ENSP00000368253:p.Arg58Trp					NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W	p.R58W	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	406	-			58			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.172C>T	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413147	0.25465	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97994	-3.82;-4.65	4.42	2.59	0.31030	.	0.761802	0.11469	N	0.560960	D	0.96485	0.8853	L	0.55990	1.75	0.09310	N	1	D	0.63880	0.993	P	0.47470	0.548	D	0.90554	0.4511	10	0.87932	D	0	-12.9497	10.0129	0.41997	0.0:0.0:0.634:0.366	.	58	P51843	NR0B1_HUMAN	W	58	ENSP00000368253:R58W;ENSP00000396403:R58W	ENSP00000368253:R58W	R	-	1	2	NR0B1	30237230	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	0.626000	0.24492	0.401000	0.25424	-0.371000	0.07208	CGG		0.662	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		21	137	0	0	0	1	0	21	137				
ZNF836	162962	broad.mit.edu	37	19	52658887	52658887	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658887T>C	ENST00000322146.8	-	5	2570	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.K683K	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	683					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTATCAGATGTTTAGTGAGGC	0.388																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2047-2049)aaA>aaG		zinc finger protein 836							83.0	90.0	88.0					19																	52658887		2135	4257	6392	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658887T>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2049A>G	19.37:g.52658887T>C						ZNF836_ENST00000597252.1_Silent_p.K683K|CTC-471J1.8_ENST00000594362.1_RNA	p.K683K	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2570	-			683						Silent	SNP	ENST00000322146.8	37	c.2049A>G	CCDS46162.1																																																																																				0.388	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		93	395	0	0	0	1	0	93	395				
TASP1	55617	broad.mit.edu	37	20	13561576	13561576	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13561576C>A	ENST00000337743.4	-	6	576	c.456G>T	c.(454-456)aaG>aaT	p.K152N	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	152					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGAGCTTGCCCTTCTGCCCTT	0.423																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(454-456)aaG>aaT		taspase, threonine aspartase, 1							128.0	123.0	125.0					20																	13561576		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13561576C>A	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.456G>T	20.37:g.13561576C>A	ENSP00000338624:p.Lys152Asn					TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	p.K152N	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			6	576	-			152					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.456G>T	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056304	0.36277	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.93307	-3.2;-2.97	5.73	3.79	0.43588	.	0.041485	0.85682	D	0.000000	D	0.86887	0.6041	L	0.29908	0.895	0.80722	D	1	B;B	0.24132	0.098;0.061	B;B	0.25759	0.046;0.063	T	0.81477	-0.0915	10	0.30854	T	0.27	-13.0612	7.8134	0.29245	0.0:0.661:0.0:0.339	.	152;129	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	N	129;152;129	ENSP00000338624:K152N;ENSP00000400580:K129N	ENSP00000338624:K152N	K	-	3	2	TASP1	13509576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.268000	0.33062	1.413000	0.46997	0.655000	0.94253	AAG		0.423	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		12	466	1	0	1.52009e-12	1	1.63397e-12	12	466				
TAF1B	9014	broad.mit.edu	37	2	10073915	10073915	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10073915T>C	ENST00000263663.5	+	15	1757	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	TAF1B_ENST00000396242.3_Silent_p.Y268Y|RP11-95D17.1_ENST00000602458.1_lincRNA	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	523					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTAGCTATTGTACACATG	0.348																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1567-1569)taT>taC		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							58.0	63.0	61.0					2																	10073915		2197	4293	6490	SO:0001819	synonymous_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10073915T>C	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1569T>C	2.37:g.10073915T>C						TAF1B_ENST00000396242.3_Silent_p.Y268Y	p.Y523Y	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			15	1757	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		523					B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	c.1569T>C	CCDS33143.1																																																																																				0.348	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		70	195	0	0	0	1	0	70	195				
SYT5	6861	broad.mit.edu	37	19	55689710	55689710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55689710C>T	ENST00000354308.3	-	3	475	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.V36M|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	36					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGACCAGCACGATGGTGGCC	0.617																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(106-108)Gtg>Atg		synaptotagmin V							23.0	24.0	23.0					19																	55689710		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689710C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.106G>A	19.37:g.55689710C>T	ENSP00000346265:p.Val36Met					SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Missense_Mutation_p.V36M	p.V36M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	3	475	-			36					B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.106G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969891	0.53614	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.55413	0.52;0.52	4.06	-4.23	0.03789	.	0.438834	0.23508	N	0.047428	T	0.26484	0.0647	N	0.24115	0.695	0.32416	N	0.549983	B;P	0.46987	0.275;0.888	B;B	0.38842	0.016;0.283	T	0.38200	-0.9672	10	0.46703	T	0.11	.	4.6511	0.12596	0.1177:0.2183:0.5288:0.1352	.	36;36	Q4FD32;O00445	.;SYT5_HUMAN	M	36	ENSP00000442896:V36M;ENSP00000346265:V36M	ENSP00000346265:V36M	V	-	1	0	SYT5	60381522	0.030000	0.19436	0.904000	0.35570	0.929000	0.56500	-0.074000	0.11450	-0.275000	0.09219	0.561000	0.74099	GTG		0.617	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		18	88	0	0	0	1	0	18	88				
GFPT2	9945	broad.mit.edu	37	5	179743450	179743450	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179743450A>C	ENST00000253778.8	-	13	1333	c.1164T>G	c.(1162-1164)gtT>gtG	p.V388V	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	388	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTTCCTCCAAAACTTGCCGCG	0.498																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1162-1164)gtT>gtG		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						84.0	81.0	82.0					5																	179743450		2032	4211	6243	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179743450A>C	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1164T>G	5.37:g.179743450A>C							p.V388V	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1333	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	388			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1164T>G	CCDS43411.1																																																																																				0.498	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		29	164	0	0	0	1	0	29	164				
C3orf58	205428	broad.mit.edu	37	3	143704517	143704517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704517G>A	ENST00000315691.3	+	2	1325	c.790G>A	c.(790-792)Gct>Act	p.A264T	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T|C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	264					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTTGACCTCGCTTGGCAATT	0.418																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(790-792)Gct>Act		chromosome 3 open reading frame 58							185.0	171.0	176.0					3																	143704517		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143704517G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.790G>A	3.37:g.143704517G>A	ENSP00000320081:p.Ala264Thr					C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T|C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T	p.A264T	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			2	1325	+			264					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.790G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328449	0.95733	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.58652	0.32	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.982	T	0.80623	-0.1300	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	55;264	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	T	264;55;70;26	ENSP00000320081:A264T	ENSP00000320081:A264T	A	+	1	0	C3orf58	145187207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.392000	0.81423	0.563000	0.77884	GCT		0.418	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		173	751	0	0	0	1	0	173	751				
KAT6B	23522	broad.mit.edu	37	10	76744928	76744928	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76744928G>A	ENST00000287239.4	+	12	2953	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	KAT6B_ENST00000372711.1_Missense_Mutation_p.E639K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E530K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E530K|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.E530K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	822	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTATGATGTCGAGCCATTCCT	0.383																																						ENST00000287239.4																			0											c.(2464-2466)Gag>Aag		K(lysine) acetyltransferase 6B							125.0	116.0	119.0					10																	76744928		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76744928G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2464G>A	10.37:g.76744928G>A	ENSP00000287239:p.Glu822Lys					KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.E639K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E530K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E530K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E530K	p.E822K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			12	2953	+			822			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2464G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945428	0.73672	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80480	-1.35;-1.35;-1.38;-1.35;-1.36	6.07	6.07	0.98685	.	0.000000	0.50627	D	0.000114	D	0.92459	0.7606	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.81914	0.995;0.993;0.986	D	0.92939	0.6370	10	0.87932	D	0	-14.2671	20.6452	0.99591	0.0:0.0:1.0:0.0	.	639;530;822	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	K	530;530;822;530;639	ENSP00000361810:E530K;ENSP00000361809:E530K;ENSP00000287239:E822K;ENSP00000361799:E530K;ENSP00000361796:E639K	ENSP00000287239:E822K	E	+	1	0	KAT6B	76414934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.885000	0.99019	0.650000	0.86243	GAG		0.383	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		53	226	0	0	0	1	0	53	226				
TMEM184B	25829	broad.mit.edu	37	22	38643832	38643832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38643832C>T	ENST00000361906.3	-	2	344	c.136G>A	c.(136-138)Gct>Act	p.A46T	TMEM184B_ENST00000361684.4_Missense_Mutation_p.A46T	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	46						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					ATGGCCTGAGCGGCAGTTGTC	0.637																																						ENST00000361906.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(136-138)Gct>Act		transmembrane protein 184B							59.0	51.0	54.0					22																	38643832		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38643832C>T	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.136G>A	22.37:g.38643832C>T	ENSP00000355210:p.Ala46Thr					TMEM184B_ENST00000361684.4_Missense_Mutation_p.A46T	p.A46T	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN			2	344	-	Melanoma(58;0.045)		46					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.136G>A	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772239	0.90108	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.44083	0.93;0.93	4.66	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.80982	2.52	0.80722	D	1	D	0.61080	0.989	P	0.62491	0.903	T	0.64019	-0.6505	10	0.44086	T	0.13	.	12.9039	0.58141	0.0:0.9207:0.0:0.0793	.	46	Q9Y519	T184B_HUMAN	T	46	ENSP00000355210:A46T;ENSP00000354441:A46T	ENSP00000354441:A46T	A	-	1	0	TMEM184B	36973778	1.000000	0.71417	0.141000	0.22245	0.966000	0.64601	5.569000	0.67391	0.960000	0.38005	0.491000	0.48974	GCT		0.637	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		5	146	0	0	0	1	0	5	146				
ANAPC5	51433	broad.mit.edu	37	12	121757499	121757499	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121757499C>A	ENST00000261819.3	-	13	1759		c.e13+1		ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTTTCTTACCTATAAACAC	0.303																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.e13+1		anaphase promoting complex subunit 5							62.0	56.0	58.0					12																	121757499		2203	4299	6502	SO:0001630	splice_region_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121757499C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1637+1G>T	12.37:g.121757499C>A						ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site|ANAPC5_ENST00000541887.1_Splice_Site		NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			13	1759	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							E9PFB2|Q8N4H7|Q9BQD4	Splice_Site	SNP	ENST00000261819.3	37		CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680924	0.68042	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1779	0.89767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANAPC5	120241882	1.000000	0.71417	0.967000	0.41034	0.772000	0.43724	5.608000	0.67654	2.598000	0.87819	0.563000	0.77884	.		0.303	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1		Intron	30	93	1	0	1.16021e-09	1	1.22295e-09	30	93				
HCN1	348980	broad.mit.edu	37	5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262699G>A	ENST00000303230.4	-	8	2054	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1996-1998)cCg>cTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							153.0	149.0	150.0					5																	45262699		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262699G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1997C>T	5.37:g.45262699G>A	ENSP00000307342:p.Pro666Leu						p.P666L	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2054	-			666						Missense_Mutation	SNP	ENST00000303230.4	37	c.1997C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906252	0.33628	.	.	ENSG00000164588	ENST00000303230	D	0.97404	-4.37	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000009	D	0.94928	0.8360	L	0.44542	1.39	0.58432	D	0.999998	B	0.20988	0.05	B	0.12837	0.008	D	0.92028	0.5631	10	0.28530	T	0.3	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	666	O60741	HCN1_HUMAN	L	666	ENSP00000307342:P666L	ENSP00000307342:P666L	P	-	2	0	HCN1	45298456	0.632000	0.27172	0.938000	0.37757	0.722000	0.41435	2.974000	0.49272	2.528000	0.85240	0.563000	0.77884	CCG		0.577	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		67	304	0	0	0	1	0	67	304				
OBSCN	84033	broad.mit.edu	37	1	228459771	228459771	+	Intron	SNP	C	C	T	rs548456456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459771C>T	ENST00000422127.1	+	18	5181				OBSCN_ENST00000570156.2_Silent_p.D1945D|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_Silent_p.D417D|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTACAAGGACGGGAAGAAGC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19583	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5833-5835)gaC>gaT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							86.0	80.0	82.0					1																	228459771		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228459771C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5138-1700C>T	1.37:g.228459771C>T						OBSCN_ENST00000359599.6_Silent_p.D417D|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron	p.D1945D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			20	5909	+		Prostate(94;0.0405)	926			Ig-like 19.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.5835C>T	CCDS58065.1																																																																																				0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		63	281	0	0	0	1	0	63	281				
CACNB2	783	broad.mit.edu	37	10	18823122	18823122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18823122C>A	ENST00000324631.7	+	11	1232	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	RP11-383B4.4_ENST00000433526.1_RNA|CACNB2_ENST00000396576.2_Missense_Mutation_p.P336H|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H|CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	391					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTTGGCCCCTATTATAGTA	0.368																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1006-1008)cCt>cAt		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						101.0	110.0	107.0					10																	18823122		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18823122C>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1172C>A	10.37:g.18823122C>A	ENSP00000320025:p.Pro391His					CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H|CACNB2_ENST00000324631.7_Missense_Mutation_p.P391H|CACNB2_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H	p.P336H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			10	1508	+			391					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1007C>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972435	0.92919	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.54	5.54	0.83059	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.84208	0.0454	10	0.87932	D	0	-15.9416	19.4818	0.95013	0.0:1.0:0.0:0.0	.	305;363;343;313;337;347;298;339;363;353;367;391	B7Z1U5;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	391;367;363;339;336;298;337;343	ENSP00000320025:P391H;ENSP00000344474:P367H;ENSP00000282343:P363H;ENSP00000366548:P339H;ENSP00000379821:P336H;ENSP00000366536:P298H;ENSP00000366546:P337H;ENSP00000366532:P343H	ENSP00000282343:P363H	P	+	2	0	CACNB2	18863128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.590000	0.87494	0.557000	0.71058	CCT		0.368	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		106	581	1	0	1.47424e-42	1	1.79587e-42	106	581				
DIDO1	11083	broad.mit.edu	37	20	61525105	61525105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525105G>T	ENST00000266070.4	-	12	3339	c.3014C>A	c.(3013-3015)tCt>tAt	p.S1005Y	DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1005					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CACCATCACAGAAGTCAAGAC	0.557																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3013-3015)tCt>tAt		death inducer-obliterator 1							127.0	105.0	112.0					20																	61525105		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525105G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3014C>A	20.37:g.61525105G>T	ENSP00000266070:p.Ser1005Tyr					DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y	p.S1005Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3339	-	Breast(26;5.68e-08)		1005					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3014C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297133	0.60086	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12672	3.01;3.01;2.66;2.66	5.95	5.95	0.96441	.	0.429288	0.17073	U	0.188086	T	0.26412	0.0645	L	0.57536	1.79	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.54100	0.742;0.556	T	0.11372	-1.0590	10	0.72032	D	0.01	-18.7404	12.7851	0.57500	0.0:0.0:0.8365:0.1635	.	1005;1005	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	1005	ENSP00000266070:S1005Y;ENSP00000378752:S1005Y;ENSP00000378749:S1005Y;ENSP00000378744:S1005Y	ENSP00000266070:S1005Y	S	-	2	0	DIDO1	60995550	0.273000	0.24181	0.008000	0.14137	0.001000	0.01503	3.724000	0.54962	2.824000	0.97209	0.655000	0.94253	TCT		0.557	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		103	473	1	0	6.23761e-45	1	7.63986e-45	103	473				
KDM4D	55693	broad.mit.edu	37	11	94732006	94732006	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94732006C>A	ENST00000335080.5	+	3	2302	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	KDM4D_ENST00000536741.1_Silent_p.P490P	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	490					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACCTGAGCCCCTACCTGAGG	0.622																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1468-1470)ccC>ccA		lysine (K)-specific demethylase 4D							26.0	28.0	27.0					11																	94732006		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94732006C>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1470C>A	11.37:g.94732006C>A						KDM4D_ENST00000536741.1_Silent_p.P490P	p.P490P	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	2302	+			490					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.1470C>A	CCDS8302.1																																																																																				0.622	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		42	185	1	0	2.35958e-20	1	2.64308e-20	42	185				
MAP2K2	5605	broad.mit.edu	37	19	4099233	4099233	+	Silent	SNP	C	C	T	rs368405565		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4099233C>T	ENST00000262948.5	-	7	1138	c.885G>A	c.(883-885)tcG>tcA	p.S295S	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Silent_p.S198S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	295	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	TCGGCCGAGGCGAGATGCTGT	0.706																																						ENST00000262948.5																			0											c.(883-885)tcG>tcA		mitogen-activated protein kinase kinase 2		C		1,4375		0,1,2187	13.0	15.0	14.0		885	-8.9	0.6	19		14	0,8582		0,0,4291	no	coding-synonymous	MAP2K2	NM_030662.3		0,1,6478	TT,TC,CC		0.0,0.0229,0.0077		295/401	4099233	1,12957	2188	4291	6479	SO:0001819	synonymous_variant	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4099233C>T	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.885G>A	19.37:g.4099233C>T						MAP2K2_ENST00000394867.4_Silent_p.S198S	p.S295S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1138	-		Hepatocellular(1079;0.137)	295			Pro-rich.|Protein kinase.			Silent	SNP	ENST00000262948.5	37	c.885G>A	CCDS12120.1																																																																																				0.706	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			18	51	0	0	0	1	0	18	51				
GAK	2580	broad.mit.edu	37	4	845593	845593	+	Silent	SNP	C	C	T	rs377418158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845593C>T	ENST00000314167.4	-	25	3563	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.S1072S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1151					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1151S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTGAAGTTCGAGGCATAGT	0.667																																						ENST00000314167.4																			1	Substitution - coding silent(1)	p.S1151S(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3451-3453)tcG>tcA		cyclin G associated kinase		C		0,4406		0,0,2203	40.0	45.0	43.0		3453	-9.7	0.0	4		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GAK	NM_005255.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1151/1312	845593	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845593C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3453G>A	4.37:g.845593C>T						GAK_ENST00000511163.1_Silent_p.S1072S|GAK_ENST00000509566.1_5'UTR	p.S1151S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3563	-			1151					Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.3453G>A	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566622	0.03910	0.0	1.16E-4	ENSG00000178950	ENST00000511980	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.40909	0.1136	.	.	.	0.48452	D	0.999653	.	.	.	.	.	.	T	0.51624	-0.8682	4	.	.	.	-3.5356	4.0179	0.09652	0.142:0.4583:0.1078:0.292	.	.	.	.	Q	307	.	.	R	-	2	0	GAK	835593	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-2.579000	0.00907	-3.608000	0.00133	-1.240000	0.01540	CGA		0.667	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		77	378	0	0	0	1	0	77	378				
HIST1H2BI	8346	broad.mit.edu	37	6	26273462	26273462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26273462C>T	ENST00000377733.2	+	1	319	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	87					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						TTATAACAAGCGCTCGACCAT	0.602																																						ENST00000377733.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						c.(259-261)Cgc>Tgc		histone cluster 1, H2bi							89.0	89.0	89.0					6																	26273462		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273462C>T	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.259C>T	6.37:g.26273462C>T	ENSP00000366962:p.Arg87Cys						p.R87C	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN			1	319	+			87					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.259C>T	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	16.66	3.184707	0.57909	.	.	ENSG00000168242	ENST00000377733	T	0.78003	-1.14	4.5	4.5	0.54988	.	0.000000	0.42821	U	0.000645	D	0.87513	0.6196	M	0.91717	3.235	0.41726	D	0.989538	.	.	.	.	.	.	D	0.89578	0.3818	8	0.51188	T	0.08	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	87	ENSP00000366962:R87C	ENSP00000366962:R87C	R	+	1	0	HIST1H2BI	26381441	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.125000	0.50469	2.058000	0.61347	0.563000	0.77884	CGC		0.602	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		146	559	0	0	0	1	0	146	559				
TMCC1	23023	broad.mit.edu	37	3	129389812	129389812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129389812G>A	ENST00000393238.3	-	4	1212	c.872C>T	c.(871-873)aCt>aTt	p.T291I	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I|TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	291						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGAGGATAGTTTGGGCAGA	0.502																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(871-873)aCt>aTt		transmembrane and coiled-coil domain family 1							154.0	145.0	148.0					3																	129389812		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389812G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.872C>T	3.37:g.129389812G>A	ENSP00000376930:p.Thr291Ile					TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I|TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I	p.T291I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1212	-			291					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.872C>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360066	0.61403	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.49139	0.79;0.79;0.79	5.56	5.56	0.83823	.	0.133374	0.64402	N	0.000002	T	0.65450	0.2692	M	0.65975	2.015	0.52099	D	0.999945	D;D	0.61080	0.989;0.96	D;P	0.71656	0.974;0.761	T	0.63247	-0.6680	10	0.42905	T	0.14	-16.8923	14.6945	0.69110	0.0:0.0:0.8549:0.1451	.	112;291	B4DE04;O94876	.;TMCC1_HUMAN	I	291;177;112	ENSP00000376930:T291I;ENSP00000389892:T177I;ENSP00000327349:T112I	ENSP00000327349:T112I	T	-	2	0	TMCC1	130872502	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.208000	0.65203	2.778000	0.95560	0.591000	0.81541	ACT		0.502	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		147	607	0	0	0	1	0	147	607				
MT1M	4499	broad.mit.edu	37	16	56666669	56666669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56666669C>T	ENST00000379818.3	+	1	525	c.26C>T	c.(25-27)aCt>aTt	p.T9I	AC026461.1_ENST00000600389.1_5'Flank	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	9	Beta.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						TCCTGCACCACTGGTAAGAGA	0.592																																						ENST00000379818.3																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(25-27)aCt>aTt		metallothionein 1M							65.0	71.0	69.0					16																	56666669		2197	4300	6497	SO:0001583	missense	4499						metal ion binding	g.chr16:56666669C>T	AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"""Metallothioneins"""	14296	protein-coding gene	gene with protein product		156357	"""metallothionein 1K"""	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.26C>T	16.37:g.56666669C>T	ENSP00000369146:p.Thr9Ile						p.T9I	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN			1	525	+			9			Beta.		Q8TDN3	Missense_Mutation	SNP	ENST00000379818.3	37	c.26C>T	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431737	0.25813	.	.	ENSG00000205364	ENST00000379818	T	0.10288	2.89	2.61	1.48	0.22813	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.102672	0.38005	U	0.001860	T	0.09335	0.0230	.	.	.	0.09310	N	1	B	0.26002	0.139	B	0.34301	0.179	T	0.22208	-1.0223	9	0.87932	D	0	.	5.9454	0.19215	0.3093:0.6907:0.0:0.0	.	9	Q8N339	MT1M_HUMAN	I	9	ENSP00000369146:T9I	ENSP00000369146:T9I	T	+	2	0	MT1M	55224170	0.001000	0.12720	0.009000	0.14445	0.009000	0.06853	0.537000	0.23144	1.466000	0.48025	0.306000	0.20318	ACT		0.592	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	NM_176870		77	480	0	0	0	1	0	77	480				
CNTLN	54875	broad.mit.edu	37	9	17340942	17340942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17340942G>T	ENST00000380647.3	+	11	1846	c.1762G>T	c.(1762-1764)Ggc>Tgc	p.G588C	CNTLN_ENST00000262360.5_Missense_Mutation_p.G588C|CNTLN_ENST00000425824.1_Missense_Mutation_p.G588C			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	588					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGGCAGTGGCATGTGAGT	0.388																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1762-1764)Ggc>Tgc		centlein, centrosomal protein							81.0	74.0	76.0					9																	17340942		1914	4142	6056	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17340942G>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1762G>T	9.37:g.17340942G>T	ENSP00000370021:p.Gly588Cys					CNTLN_ENST00000262360.5_Missense_Mutation_p.G588C|CNTLN_ENST00000425824.1_Missense_Mutation_p.G588C	p.G588C			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	11	1846	+			588					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1762G>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330380	0.60743	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.11604	2.76;2.76;2.76	5.4	3.3	0.37823	.	.	.	.	.	T	0.22781	0.0550	M	0.64997	1.995	0.35483	D	0.798318	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.69479	0.964;0.947;0.947	T	0.20974	-1.0259	9	0.62326	D	0.03	.	4.1643	0.10300	0.4102:0.0:0.5898:0.0	.	588;588;588	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	C	588	ENSP00000370021:G588C;ENSP00000392798:G588C;ENSP00000262360:G588C	ENSP00000262360:G588C	G	+	1	0	CNTLN	17330942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.094000	0.50227	1.259000	0.44117	0.591000	0.81541	GGC		0.388	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		5	209	1	0	0.000602214	1	0.000609647	5	209				
MRC2	9902	broad.mit.edu	37	17	60744886	60744886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60744886C>T	ENST00000303375.5	+	6	1511	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	370					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCGAGCCCACCCCTCCAGGT	0.692																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(1108-1110)aCc>aTc		mannose receptor, C type 2							46.0	41.0	42.0					17																	60744886		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60744886C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1109C>T	17.37:g.60744886C>T	ENSP00000307513:p.Thr370Ile						p.T370I	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			6	1511	+			370					A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.1109C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513668	0.27123	.	.	ENSG00000011028	ENST00000303375	T	0.06933	3.24	4.69	-1.81	0.07882	C-type lectin-like (1);	0.910434	0.09602	N	0.780066	T	0.02083	0.0065	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	10	0.20519	T	0.43	-4.4615	1.3201	0.02114	0.1546:0.241:0.1522:0.4521	.	370	Q9UBG0	MRC2_HUMAN	I	370	ENSP00000307513:T370I	ENSP00000307513:T370I	T	+	2	0	MRC2	58098618	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	0.366000	0.20365	-0.496000	0.06650	-0.379000	0.06801	ACC		0.692	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			34	295	0	0	0	1	0	34	295				
C14orf37	145407	broad.mit.edu	37	14	58605363	58605363	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605363A>C	ENST00000267485.7	-	2	908	c.714T>G	c.(712-714)ggT>ggG	p.G238G	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGGACTCAGCACCAGGAAAAG	0.502																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(712-714)ggT>ggG		chromosome 14 open reading frame 37							105.0	90.0	95.0					14																	58605363		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605363A>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.714T>G	14.37:g.58605363A>C						C14orf37_ENST00000334342.5_5'UTR	p.G238G	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	908	-			238					A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.714T>G	CCDS32089.1																																																																																				0.502	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		78	313	0	0	0	1	0	78	313				
DCHS1	8642	broad.mit.edu	37	11	6644979	6644979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644979G>A	ENST00000299441.3	-	21	8339	c.7928C>T	c.(7927-7929)tCa>tTa	p.S2643L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2643	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTCGCCTGAGCTGACAGT	0.597																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7927-7929)tCa>tTa		dachsous cadherin-related 1							76.0	68.0	71.0					11																	6644979		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6644979G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7928C>T	11.37:g.6644979G>A	ENSP00000299441:p.Ser2643Leu						p.S2643L	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8339	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2643			Cadherin 25.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7928C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929099	0.73327	.	.	ENSG00000166341	ENST00000299441	T	0.43294	0.95	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.38005	N	0.001853	T	0.68109	0.2965	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.70857	-0.4758	10	0.59425	D	0.04	.	17.9244	0.88979	0.0:0.0:1.0:0.0	.	2643	Q96JQ0	PCD16_HUMAN	L	2643	ENSP00000299441:S2643L	ENSP00000299441:S2643L	S	-	2	0	DCHS1	6601555	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	7.442000	0.80503	2.822000	0.97130	0.650000	0.86243	TCA		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	369	0	0	0	1	0	9	369				
PLD3	23646	broad.mit.edu	37	19	40884077	40884077	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40884077C>A	ENST00000409587.1	+	13	1867	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	PLD3_ENST00000356508.5_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L|PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000409419.1_Silent_p.L490L			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	490					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCGCCTGCTCTGAGGCCCGA	0.687																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1468-1470)ctC>ctA		phospholipase D family, member 3							61.0	62.0	62.0					19																	40884077		2203	4299	6502	SO:0001819	synonymous_variant	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40884077C>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1470C>A	19.37:g.40884077C>A						PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000356508.5_Silent_p.L490L|PLD3_ENST00000409419.1_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L	p.L490L			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		13	1867	+			490					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.1470C>A	CCDS33027.1																																																																																				0.687	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		109	506	1	0	3.0332e-58	1	3.802e-58	109	506				
SEC13	6396	broad.mit.edu	37	3	10354403	10354403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10354403G>T	ENST00000350697.3	-	4	301	c.176C>A	c.(175-177)cCt>cAt	p.P59H	SEC13_ENST00000397109.3_Missense_Mutation_p.P45H|SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000397117.1_Missense_Mutation_p.P45H|SEC13_ENST00000383801.2_Missense_Mutation_p.P105H	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	59					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)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTGCCACACAGGACCCTCATG	0.537																																						ENST00000397117.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(133-135)cCt>cAt		SEC13 homolog (S. cerevisiae)							96.0	90.0	92.0					3																	10354403		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10354403G>T		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.176C>A	3.37:g.10354403G>T	ENSP00000312122:p.Pro59His					SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000397109.3_Missense_Mutation_p.P45H|SEC13_ENST00000383801.2_Missense_Mutation_p.P105H|SEC13_ENST00000350697.3_Missense_Mutation_p.P59H	p.P45H			P55735	SEC13_HUMAN			4	725	-			59					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.134C>A	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672335	0.88348	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105;ENST00000431352	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.67569	2.06	0.80722	D	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;1.0;1.0;1.0	T	0.80303	-0.1439	10	0.87932	D	0	.	15.6632	0.77206	0.0:0.0:1.0:0.0	.	59;59;45;105;59	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	H	45;62;59;45;105;59;62	ENSP00000380298:P45H;ENSP00000336566:P62H;ENSP00000312122:P59H;ENSP00000380306:P45H;ENSP00000373312:P105H;ENSP00000401368:P62H	ENSP00000336566:P62H	P	-	2	0	SEC13	10329403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.715000	0.98748	2.276000	0.75962	0.561000	0.74099	CCT		0.537	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			81	377	1	0	1.26373e-49	1	1.56379e-49	81	377				
CASP10	843	broad.mit.edu	37	2	202050562	202050562	+	Missense_Mutation	SNP	G	G	A	rs140813639	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202050562G>A	ENST00000272879.5	+	2	246	c.62G>A	c.(61-63)cGt>cAt	p.R21H	CASP10_ENST00000286186.6_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	21	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.		R -> C (found in a multiple myeloma sample; somatic mutation). {ECO:0000269|PubMed:19900088}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTGAGCTTTCGTGAGAAGCTT	0.463																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(61-63)cGt>cAt		caspase 10, apoptosis-related cysteine peptidase		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	72.0	77.0	75.0		62,62,62,62,62,62	3.3	0.0	2	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense	CASP10	NM_001206524.1,NM_001206542.1,NM_001230.4,NM_032974.4,NM_032976.3,NM_032977.3	29,29,29,29,29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/456,21/479,21/480,21/522,21/274,21/523	202050562	4,13002	2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202050562G>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.62G>A	2.37:g.202050562G>A	ENSP00000272879:p.Arg21His					CASP10_ENST00000272879.5_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H	p.R21H	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			2	497	+			21		R -> C (found in a multiple myeloma sample; somatic mutation).	DED 1.		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.62G>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591814	0.46214	0.0	4.65E-4	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.13	3.29	0.37713	DEATH-like (2);Death effector (3);	0.912306	0.09231	N	0.830544	D	0.88994	0.6589	M	0.62266	1.93	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.76071	0.978;0.975;0.987;0.98;0.968;0.984	T	0.76027	-0.3109	10	0.72032	D	0.01	.	9.6803	0.40065	0.1771:0.0:0.8229:0.0	.	21;21;21;21;21;21	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	H	21	ENSP00000286186:R21H;ENSP00000353250:R21H;ENSP00000272879:R21H;ENSP00000363781:R21H;ENSP00000237865:R21H;ENSP00000314599:R21H;ENSP00000396835:R21H	ENSP00000272879:R21H	R	+	2	0	CASP10	201758807	0.201000	0.23410	0.021000	0.16686	0.036000	0.12997	0.779000	0.26746	1.286000	0.44565	0.655000	0.94253	CGT		0.463	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		134	419	0	0	0	1	0	134	419				
DCHS1	8642	broad.mit.edu	37	11	6647793	6647793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6647793C>T	ENST00000299441.3	-	15	6765	c.6354G>A	c.(6352-6354)caG>caA	p.Q2118Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2118	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTACTAGGCTGGATGGAGA	0.542																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(6352-6354)caG>caA		dachsous cadherin-related 1							150.0	142.0	145.0					11																	6647793		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6647793C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6354G>A	11.37:g.6647793C>T							p.Q2118Q	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	15	6765	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2118			Cadherin 20.		O15098	Silent	SNP	ENST00000299441.3	37	c.6354G>A	CCDS7771.1																																																																																				0.542	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		35	446	0	0	0	1	0	35	446				
DHX36	170506	broad.mit.edu	37	3	154002724	154002724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154002724C>T	ENST00000496811.1	-	18	2164	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	695					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AACGGGTAATCGTGCCAAGTG	0.403																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2083-2085)cGa>cAa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							126.0	121.0	122.0					3																	154002724		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154002724C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2084G>A	3.37:g.154002724C>T	ENSP00000417078:p.Arg695Gln					DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q	p.R695Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		18	2164	-			695					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2084G>A	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715414|4.715414	0.89112|0.89112	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000469977|ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.|T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Helicase-associated domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43662	.|0.608;0.608;0.814	.|B;B;B	.|0.41691	.|0.249;0.358;0.364	T|T	0.01648|0.01648	-1.1304|-1.1304	5|10	.|0.33141	.|T	.|0.24	.|.	19.5978|19.5978	0.95548|0.95548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|681;695;695	.|Q9H2U1-2;Q9H2U1-3;Q9H2U1	.|.;.;DHX36_HUMAN	N|Q	142|695;695;681;681;609	.|ENSP00000417078:R695Q;ENSP00000309296:R695Q;ENSP00000444247:R681Q;ENSP00000330113:R681Q;ENSP00000419862:R609Q	.|ENSP00000309296:R695Q	D|R	-|-	1|2	0|0	DHX36|DHX36	155485418|155485418	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.990000|0.990000	0.78478|0.78478	7.662000|7.662000	0.83803|0.83803	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.403	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		78	367	0	0	0	1	0	78	367				
RHBDD2	57414	broad.mit.edu	37	7	75511175	75511175	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75511175C>T	ENST00000006777.6	+	2	342	c.207C>T	c.(205-207)gtC>gtT	p.V69V	RHBDD2_ENST00000428119.1_5'Flank|RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	69						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						ACATCTTTGTCTACGAGAATC	0.577																																						ENST00000006777.6																			0				kidney(1)|lung(4)|prostate(1)	6						c.(205-207)gtC>gtT		rhomboid domain containing 2							88.0	95.0	93.0					7																	75511175		2009	4173	6182	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511175C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.207C>T	7.37:g.75511175C>T						RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron	p.V69V	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN			2	342	+			69					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.207C>T	CCDS43602.1																																																																																				0.577	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		143	622	0	0	0	1	0	143	622				
TRAF4	9618	broad.mit.edu	37	17	27071139	27071139	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27071139C>T	ENST00000262395.5	+	1	138	c.9C>T	c.(7-9)ggC>ggT	p.G3G	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_Silent_p.G3G|TRAF4_ENST00000444415.3_Silent_p.G3G|AC010761.6_ENST00000582536.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	3					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCATGCCTGGCTTCGACTACA	0.746																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(7-9)ggC>ggT		TNF receptor-associated factor 4							13.0	16.0	15.0					17																	27071139		2200	4294	6494	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27071139C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.9C>T	17.37:g.27071139C>T						TRAF4_ENST00000262396.6_Silent_p.G3G|TRAF4_ENST00000444415.3_Silent_p.G3G	p.G3G	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		1	138	+	Lung NSC(42;0.01)		3					O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.9C>T	CCDS11243.1																																																																																				0.746	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		19	98	0	0	0	1	0	19	98				
COL7A1	1294	broad.mit.edu	37	3	48621004	48621004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621004C>T	ENST00000328333.8	-	40	4493	c.4386G>A	c.(4384-4386)ggG>ggA	p.G1462G	COL7A1_ENST00000454817.1_Silent_p.G1462G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1462	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCCGGAGACCCAGGTTGTC	0.617																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4384-4386)ggG>ggA		collagen, type VII, alpha 1							44.0	47.0	46.0					3																	48621004		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621004C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4386G>A	3.37:g.48621004C>T						COL7A1_ENST00000454817.1_Silent_p.G1462G	p.G1462G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	40	4493	-			1462			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.4386G>A	CCDS2773.1																																																																																				0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		45	250	0	0	0	1	0	45	250				
HRH2	3274	broad.mit.edu	37	5	175110665	175110665	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110665G>T	ENST00000231683.2	+	1	2202	c.429G>T	c.(427-429)tgG>tgT	p.W143C	HRH2_ENST00000377291.2_Missense_Mutation_p.W143C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	143					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCTTAATTTGGGTCATCTCCA	0.552																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(427-429)tgG>tgT		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						143.0	114.0	124.0					5																	175110665		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110665G>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.429G>T	5.37:g.175110665G>T	ENSP00000231683:p.Trp143Cys					HRH2_ENST00000377291.2_Missense_Mutation_p.W143C	p.W143C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2202	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	143					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.429G>T	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765882	0.69878	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	D;D	0.88818	-2.43;-2.43	5.27	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97572	1.0105	10	0.87932	D	0	.	13.0723	0.59068	0.0775:0.0:0.9225:0.0	.	143;143	P25021;Q7Z5R9	HRH2_HUMAN;.	C	143	ENSP00000366506:W143C;ENSP00000231683:W143C	ENSP00000231683:W143C	W	+	3	0	HRH2	175043271	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.869000	0.99810	1.235000	0.43724	0.462000	0.41574	TGG		0.552	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			8	324	1	0	0.00448238	1	0.00451339	8	324				
AOX1	316	broad.mit.edu	37	2	201469468	201469468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201469468G>T	ENST00000374700.2	+	9	960	c.719G>T	c.(718-720)aGa>aTa	p.R240I		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	240	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCAGTGAGAGAATGATGTGG	0.468																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(718-720)aGa>aTa		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						156.0	137.0	144.0					2																	201469468		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201469468G>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.719G>T	2.37:g.201469468G>T	ENSP00000363832:p.Arg240Ile						p.R240I	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			9	960	+			240			FAD-binding PCMH-type.		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.719G>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594960	0.86953	.	.	ENSG00000138356	ENST00000374700	T	0.23950	1.88	5.27	5.27	0.74061	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);Molybdopterin dehydrogenase, FAD-binding (1);	0.047834	0.85682	D	0.000000	T	0.59088	0.2168	M	0.90814	3.15	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.67304	-0.5704	10	0.87932	D	0	-52.8732	19.0885	0.93215	0.0:0.0:1.0:0.0	.	240	Q06278	ADO_HUMAN	I	240	ENSP00000363832:R240I	ENSP00000363832:R240I	R	+	2	0	AOX1	201177713	1.000000	0.71417	0.109000	0.21407	0.003000	0.03518	5.971000	0.70440	2.758000	0.94735	0.561000	0.74099	AGA		0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		85	514	1	0	3.59392e-34	1	4.27159e-34	85	514				
C12orf43	64897	broad.mit.edu	37	12	121442209	121442209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121442209C>T	ENST00000288757.3	-	6	558	c.536G>A	c.(535-537)aGc>aAc	p.S179N	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000445832.3_Missense_Mutation_p.S149N|C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	179										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTTCCAGGGCTGTGGATGGC	0.602																																						ENST00000445832.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14						c.(445-447)aGc>aAc		chromosome 12 open reading frame 43							117.0	132.0	127.0					12																	121442209		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121442209C>T	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.536G>A	12.37:g.121442209C>T	ENSP00000288757:p.Ser179Asn					C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000288757.3_Missense_Mutation_p.S179N|C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N	p.S149N			Q96C57	CL043_HUMAN			6	548	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		179			Poly-Ser.		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.446G>A	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.138276|2.138276	0.37728|0.37728	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000546272|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.48836	.|0.82;0.81;0.82;0.8;0.81	5.0|5.0	3.15|3.15	0.36227|0.36227	.|.	.|1.472730	.|0.03567	.|N	.|0.228022	T|T	0.36220|0.36220	0.0959|0.0959	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32467	.|0.006;0.006;0.372;0.006;0.152	.|B;B;B;B;B	.|0.32677	.|0.012;0.005;0.15;0.005;0.08	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.17369	.|T	.|0.5	-0.4383|-0.4383	9.3139|9.3139	0.37921|0.37921	0.1449:0.7773:0.0:0.0778|0.1449:0.7773:0.0:0.0778	.|.	.|169;138;180;169;179	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	T|N	133|149;179;180;138;169;117;134	.|ENSP00000409788:S149N;ENSP00000288757:S179N;ENSP00000442224:S180N;ENSP00000437803:S169N;ENSP00000442041:S117N	.|ENSP00000288757:S179N	A|S	-|-	1|2	0|0	C12orf43|C12orf43	119926592|119926592	0.068000|0.068000	0.21057|0.21057	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	0.963000|0.963000	0.29293|0.29293	0.771000|0.771000	0.33359|0.33359	-0.140000|-0.140000	0.14226|0.14226	GCC|AGC		0.602	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		77	848	0	0	0	1	0	77	848				
UTP14C	9724	broad.mit.edu	37	13	52603992	52603992	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603992T>C	ENST00000521776.2	+	2	1785	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	351					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGCACAGAAGTGGAAGAACTC	0.522																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1051-1053)gTg>gCg		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							115.0	105.0	108.0					13																	52603992		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603992T>C	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1052T>C	13.37:g.52603992T>C	ENSP00000428619:p.Val351Ala						p.V351A	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1785	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	351					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.1052T>C	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	T	8.706	0.910884	0.17833	.	.	ENSG00000253797	ENST00000521776	T	0.16597	2.33	2.58	-3.34	0.04943	.	0.572465	0.18972	N	0.126118	T	0.04679	0.0127	N	0.03608	-0.345	0.20489	N	0.999899	B	0.16802	0.019	B	0.17433	0.018	T	0.34329	-0.9833	9	.	.	.	-8.024	3.9033	0.09171	0.4944:0.1773:0.0:0.3283	.	351	Q5TAP6	UT14C_HUMAN	A	351	ENSP00000428619:V351A	.	V	+	2	0	UTP14C	51501993	0.848000	0.29623	0.004000	0.12327	0.148000	0.21650	1.724000	0.38064	-0.691000	0.05135	-0.795000	0.03280	GTG		0.522	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		87	322	0	0	0	1	0	87	322				
PLK1	5347	broad.mit.edu	37	16	23693421	23693421	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23693421T>G	ENST00000300093.4	+	4	870	c.759T>G	c.(757-759)acT>acG	p.T253T		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTTTTGAGACTTCTTGCCTAA	0.423																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(757-759)acT>acG		polo-like kinase 1							147.0	136.0	140.0					16																	23693421		2197	4300	6497	SO:0001819	synonymous_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23693421T>G		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.759T>G	16.37:g.23693421T>G							p.T253T	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	4	870	+			253			Protein kinase.		Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.759T>G	CCDS10616.1																																																																																				0.423	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		22	421	0	0	0	1	0	22	421				
HMHA1	23526	broad.mit.edu	37	19	1068512	1068512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1068512C>T	ENST00000313093.2	+	2	421	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	HMHA1_ENST00000539243.2_Missense_Mutation_p.R80W|HMHA1_ENST00000586866.1_Missense_Mutation_p.R68W|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Missense_Mutation_p.R91W|HMHA1_ENST00000543365.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	64					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCCTCAAGCGGCCCACCAG	0.731																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(190-192)Cgg>Tgg		histocompatibility (minor) HA-1							5.0	6.0	6.0					19																	1068512		1932	3887	5819	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068512C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.190C>T	19.37:g.1068512C>T	ENSP00000316772:p.Arg64Trp					HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Missense_Mutation_p.R80W|HMHA1_ENST00000586866.1_Missense_Mutation_p.R68W|HMHA1_ENST00000590214.1_Missense_Mutation_p.R91W	p.R64W	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	421	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	64					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.190C>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754701	0.49362	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039	T;T	0.32988	1.43;1.43	4.2	0.564	0.17302	.	0.000000	0.64402	D	0.000001	T	0.51856	0.1699	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54227	-0.8325	10	0.87932	D	0	-29.3359	12.4539	0.55693	0.6368:0.3632:0.0:0.0	.	80;64	F6QP70;Q92619	.;HMHA1_HUMAN	W	80;64;64;58	ENSP00000439601:R80W;ENSP00000316772:R64W	ENSP00000316772:R64W	R	+	1	2	HMHA1	1019512	1.000000	0.71417	0.796000	0.32109	0.227000	0.25037	0.765000	0.26546	-0.008000	0.14320	0.549000	0.68633	CGG		0.731	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			9	85	0	0	0	1	0	9	85				
HNRNPM	4670	broad.mit.edu	37	19	8550883	8550883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550883G>A	ENST00000325495.4	+	14	1612	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R485H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	524	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.R524H(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCCATCGAGCGCATGGGCCTG	0.697																																						ENST00000348943.3																			1	Substitution - Missense(1)	p.R524H(1)	lung(1)	endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1453-1455)cGc>cAc		heterogeneous nuclear ribonucleoprotein M							48.0	51.0	50.0					19																	8550883		2202	4298	6500	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550883G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1571G>A	19.37:g.8550883G>A	ENSP00000325376:p.Arg524His					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R524H	p.R485H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1686	+			524			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1454G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889696	0.72524	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.48522	0.81;1.14	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.70595	2.14	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.991;0.999;1.0	D;P;D;D	0.85130	0.987;0.511;0.937;0.997	T	0.71912	-0.4449	10	0.72032	D	0.01	.	17.8127	0.88620	0.0:0.0:1.0:0.0	.	364;524;485;409	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	524;485;409;81	ENSP00000325376:R524H;ENSP00000325732:R485H	ENSP00000325376:R524H	R	+	2	0	HNRNPM	8456883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.156000	0.77453	2.537000	0.85549	0.591000	0.81541	CGC		0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			112	470	0	0	0	1	0	112	470				
CNGA3	1261	broad.mit.edu	37	2	99008415	99008415	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99008415C>A	ENST00000272602.2	+	6	694	c.655C>A	c.(655-657)Ctt>Att	p.L219I	CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I|CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I|CNGA3_ENST00000393504.1_Missense_Mutation_p.L219I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	219					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTTGGATGTGCTTGTACGAGC	0.597																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(655-657)Ctt>Att		cyclic nucleotide gated channel alpha 3							176.0	129.0	145.0					2																	99008415		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99008415C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.655C>A	2.37:g.99008415C>A	ENSP00000272602:p.Leu219Ile					CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I|CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I|CNGA3_ENST00000272602.2_Missense_Mutation_p.L219I	p.L219I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			7	1072	+			219					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.655C>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	1.982	-0.433896	0.04669	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	5.28	3.46	0.39613	Ion transport (1);	0.120714	0.56097	D	0.000022	D	0.93481	0.7920	N	0.13327	0.33	0.25395	N	0.988493	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17098	0.013;0.013;0.017	D	0.85723	0.1326	10	0.22706	T	0.39	.	9.4971	0.38995	0.0:0.772:0.0:0.228	.	223;201;219	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	I	219;201;219;223	ENSP00000377140:L219I;ENSP00000410070:L201I;ENSP00000272602:L219I;ENSP00000386761:L223I	ENSP00000272602:L219I	L	+	1	0	CNGA3	98374847	0.015000	0.18098	0.997000	0.53966	0.084000	0.17831	0.298000	0.19120	1.473000	0.48159	-0.137000	0.14449	CTT		0.597	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		62	278	1	0	1.31726e-23	1	1.49873e-23	62	278				
DSC2	1824	broad.mit.edu	37	18	28672188	28672188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672188C>T	ENST00000280904.6	-	3	673	c.230G>A	c.(229-231)gGt>gAt	p.G77D	DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	77					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATAGACTGAACCATCCTCCAA	0.343																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(229-231)gGt>gAt		desmocollin 2							74.0	73.0	73.0					18																	28672188		2202	4299	6501	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28672188C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.230G>A	18.37:g.28672188C>T	ENSP00000280904:p.Gly77Asp					DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	p.G77D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	673	-			77						Missense_Mutation	SNP	ENST00000280904.6	37	c.230G>A	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183727	0.78677	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	D;D	0.91464	-2.85;-2.85	5.1	5.1	0.69264	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.32935	N	0.005474	D	0.95449	0.8522	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95885	0.8902	10	0.87932	D	0	.	17.6462	0.88149	0.0:1.0:0.0:0.0	.	77;77	Q02487;Q02487-2	DSC2_HUMAN;.	D	77	ENSP00000251081:G77D;ENSP00000280904:G77D	ENSP00000251081:G77D	G	-	2	0	DSC2	26926186	0.999000	0.42202	0.998000	0.56505	0.895000	0.52256	4.935000	0.63498	2.550000	0.86006	0.455000	0.32223	GGT		0.343	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		52	215	0	0	0	1	0	52	215				
MTUS1	57509	broad.mit.edu	37	8	17611250	17611250	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17611250A>G	ENST00000262102.6	-	2	2291	c.2067T>C	c.(2065-2067)acT>acC	p.T689T	MTUS1_ENST00000519263.1_Silent_p.T689T|MTUS1_ENST00000381869.3_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	689					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATATTCAAAAGTCTCATTCA	0.328																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2065-2067)acT>acC		microtubule associated tumor suppressor 1							111.0	93.0	99.0					8																	17611250		1814	4072	5886	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611250A>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2067T>C	8.37:g.17611250A>G						MTUS1_ENST00000262102.6_Silent_p.T689T|MTUS1_ENST00000519263.1_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T	p.T689T	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2540	-			689					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.2067T>C	CCDS43717.1																																																																																				0.328	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		32	174	0	0	0	1	0	32	174				
TUBA1A	7846	broad.mit.edu	37	12	49579133	49579133	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49579133C>T	ENST00000295766.5	-	4	1495	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	TUBA1A_ENST00000301071.7_Missense_Mutation_p.R339H|TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	CTGGATGGTACGCTTGGTCTT	0.552																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(1015-1017)cGt>cAt		tubulin, alpha 1a							114.0	92.0	100.0					12																	49579133		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579133C>T	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1016G>A	12.37:g.49579133C>T	ENSP00000439020:p.Arg339His					TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H|TUBA1A_ENST00000295766.5_Missense_Mutation_p.R339H	p.R339H	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			4	1360	-			339					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.1016G>A	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086823	0.36855	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84146	-1.81;-1.81;-1.81	5.1	5.1	0.69264	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86096	0.5851	M	0.74467	2.265	0.80722	D	1	B	0.09022	0.002	B	0.19666	0.026	D	0.84226	0.0464	10	0.87932	D	0	.	17.3657	0.87363	0.0:1.0:0.0:0.0	.	339	Q71U36	TBA1A_HUMAN	H	339;186;339;304	ENSP00000301071:R339H;ENSP00000439020:R339H;ENSP00000446637:R304H	ENSP00000439020:R339H	R	-	2	0	TUBA1A	47865400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.565000	0.67365	2.391000	0.81399	0.556000	0.70494	CGT		0.552	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		89	369	0	0	0	1	0	89	369				
NLRC4	58484	broad.mit.edu	37	2	32475213	32475213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32475213C>A	ENST00000404025.2	-	5	2208	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	574					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCAAATTCTTGGCTCAGG	0.378																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1720-1722)Gaa>Taa		NLR family, CARD domain containing 4							101.0	98.0	99.0					2																	32475213		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475213C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1720G>T	2.37:g.32475213C>A	ENSP00000385090:p.Glu574*					NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*|NLRC4_ENST00000342905.6_Intron	p.E574*			Q9NPP4	NLRC4_HUMAN			5	2208	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		574					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.1720G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081780	0.76528	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.0	2.11	0.27256	.	0.396359	0.19831	N	0.105084	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.6055	0.39630	0.0:0.8875:0.0:0.1125	.	.	.	.	X	574	.	ENSP00000354159:E574X	E	-	1	0	NLRC4	32328717	1.000000	0.71417	0.575000	0.28536	0.001000	0.01503	4.069000	0.57541	0.853000	0.35312	-0.300000	0.09419	GAA		0.378	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		69	417	1	0	2.02627e-32	1	2.39265e-32	69	417				
ZNF546	339327	broad.mit.edu	37	19	40513257	40513257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40513257A>G	ENST00000347077.4	+	5	464	c.248A>G	c.(247-249)gAc>gGc	p.D83G	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGCAGAGGGACTTGTACAAG	0.458																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(247-249)gAc>gGc		zinc finger protein 546							150.0	128.0	135.0					19																	40513257		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40513257A>G	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.248A>G	19.37:g.40513257A>G	ENSP00000339823:p.Asp83Gly					ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G|ZNF546_ENST00000596894.1_Intron	p.D83G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			5	464	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		83			KRAB.		A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.248A>G	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	8.936	0.964725	0.18583	.	.	ENSG00000187187	ENST00000347077	T	0.01838	4.61	2.83	0.492	0.16872	Krueppel-associated box (4);	.	.	.	.	T	0.02727	0.0082	L	0.61036	1.89	0.23962	N	0.996332	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.46062	-0.9218	9	0.23302	T	0.38	.	4.3135	0.10982	0.3651:0.4817:0.1532:0.0	.	57;83	B3KVL3;Q86UE3	.;ZN546_HUMAN	G	83	ENSP00000339823:D83G	ENSP00000339823:D83G	D	+	2	0	ZNF546	45205097	0.000000	0.05858	0.682000	0.30024	0.667000	0.39255	-1.491000	0.02302	-0.053000	0.13289	0.450000	0.29827	GAC		0.458	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		76	333	0	0	0	1	0	76	333				
TRIM2	23321	broad.mit.edu	37	4	154216605	154216605	+	Silent	SNP	C	C	T	rs142242737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216605C>T	ENST00000437508.2	+	6	1047	c.846C>T	c.(844-846)aaC>aaT	p.N282N	TRIM2_ENST00000338700.5_Silent_p.N309N|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	282					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGAAGCTGAACGAGCTGGCCG	0.582																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(925-927)aaC>aaT		tripartite motif containing 2		C	,	0,4406		0,0,2203	70.0	62.0	65.0		846,927	2.1	1.0	4	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	282/745,309/772	154216605	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154216605C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.846C>T	4.37:g.154216605C>T						TRIM2_ENST00000437508.2_Silent_p.N282N|TRIM2_ENST00000494872.1_3'UTR	p.N309N	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	992	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	282					D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.927C>T	CCDS47147.1																																																																																				0.582	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			18	196	0	0	0	1	0	18	196				
ZNF845	91664	broad.mit.edu	37	19	53855359	53855359	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855359T>C	ENST00000595091.1	+	5	1650	c.1431T>C	c.(1429-1431)agT>agC	p.S477S	ZNF845_ENST00000458035.1_Silent_p.S477S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGACCTTCAGTCAGACATCAT	0.383																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1429-1431)agT>agC		zinc finger protein 845							33.0	30.0	31.0					19																	53855359		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855359T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1431T>C	19.37:g.53855359T>C						ZNF845_ENST00000595091.1_Silent_p.S477S	p.S477S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1548	+			477						Silent	SNP	ENST00000595091.1	37	c.1431T>C	CCDS46170.1																																																																																				0.383	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		73	350	0	0	0	1	0	73	350				
UBN2	254048	broad.mit.edu	37	7	138968549	138968549	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968549T>C	ENST00000473989.3	+	15	2898	c.2898T>C	c.(2896-2898)tgT>tgC	p.C966C	UBN2_ENST00000288561.8_Silent_p.C883C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	966	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACTCTCCTGTTCCTCCTCAC	0.498																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2647-2649)tgT>tgC		ubinuclein 2							104.0	100.0	101.0					7																	138968549		1933	4126	6059	SO:0001819	synonymous_variant	254048							g.chr7:138968549T>C	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2898T>C	7.37:g.138968549T>C						UBN2_ENST00000473989.2_Silent_p.C966C	p.C883C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	2898	+			966					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.2649T>C	CCDS43655.2																																																																																				0.498	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		10	339	0	0	0	1	0	10	339				
MYO18B	84700	broad.mit.edu	37	22	26346384	26346384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26346384G>A	ENST00000407587.2	+	37	5972	c.5803G>A	c.(5803-5805)Gcc>Acc	p.A1935T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A1934T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1934	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTGGAGGAAGCCAAGAAGGA	0.438																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5800-5802)Gcc>Acc		myosin XVIIIB							39.0	44.0	42.0					22																	26346384		1954	4155	6109	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26346384G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5803G>A	22.37:g.26346384G>A	ENSP00000386096:p.Ala1935Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.A1935T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T	p.A1934T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			37	6050	+			1934			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5800G>A		.	.	.	.	.	.	.	.	.	.	G	13.98	2.399706	0.42512	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88046	-2.31;-2.31;-2.33	5.51	0.915	0.19366	.	0.363968	0.25780	N	0.028356	T	0.73713	0.3622	N	0.17474	0.49	0.24291	N	0.995169	B;B;B;B	0.18310	0.004;0.01;0.027;0.016	B;B;B;B	0.13407	0.009;0.004;0.009;0.009	T	0.60177	-0.7314	10	0.31617	T	0.26	.	9.1788	0.37129	0.3555:0.0:0.6444:0.0	.	1447;1934;1935;1934	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1934;1934;1935	ENSP00000441229:A1934T;ENSP00000334563:A1934T;ENSP00000386096:A1935T	ENSP00000334563:A1934T	A	+	1	0	MYO18B	24676384	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.721000	0.47260	0.281000	0.22233	-0.251000	0.11542	GCC		0.438	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		8	60	0	0	0	1	0	8	60				
CYC1	1537	broad.mit.edu	37	8	145151980	145151980	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145151980C>A	ENST00000318911.4	+	6	889	c.816C>A	c.(814-816)acC>acA	p.T272T	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	272					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTGTGCACCTTCCTGCGCT	0.572																																						ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(814-816)acC>acA		cytochrome c-1							80.0	53.0	62.0					8																	145151980		2201	4300	6501	SO:0001819	synonymous_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151980C>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.816C>A	8.37:g.145151980C>A							p.T272T	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	889	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		272					Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.816C>A	CCDS6415.1																																																																																				0.572	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		12	47	1	0	5.16669e-11	1	5.49905e-11	12	47				
APC2	10297	broad.mit.edu	37	19	1467886	1467886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467886G>A	ENST00000535453.1	+	14	6299	c.4586G>A	c.(4585-4587)cGc>cAc	p.R1529H	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.R1255H|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCACCGGCGCACATCGGCC	0.736																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(4585-4587)cGc>cAc		adenomatosis polyposis coli 2							6.0	8.0	7.0					19																	1467886		1972	3956	5928	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1467886G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4586G>A	19.37:g.1467886G>A	ENSP00000442954:p.Arg1529His					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H|APC2_ENST00000238483.4_Missense_Mutation_p.R1255H	p.R1529H			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	6299	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1529			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.4586G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430216	0.43122	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92699	-3.09;-2.74;-3.09	3.32	0.576	0.17380	.	2.002530	0.02410	N	0.081577	D	0.87977	0.6314	L	0.44542	1.39	0.19575	N	0.999969	B;B	0.19935	0.04;0.024	B;B	0.08055	0.003;0.001	T	0.73874	-0.3845	10	0.62326	D	0.03	-13.3497	4.1126	0.10065	0.5113:0.0:0.4887:0.0	.	1528;1529	O95996-3;O95996	.;APC2_HUMAN	H	1529;1255;1529	ENSP00000233607:R1529H;ENSP00000238483:R1255H;ENSP00000442954:R1529H	ENSP00000233607:R1529H	R	+	2	0	APC2	1418886	0.001000	0.12720	0.047000	0.18901	0.003000	0.03518	0.861000	0.27885	0.521000	0.28445	-0.436000	0.05848	CGC		0.736	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		13	88	0	0	0	1	0	13	88				
RIMBP2	23504	broad.mit.edu	37	12	130898738	130898738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130898738G>A	ENST00000261655.4	-	14	2747	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	862	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GACATGGTGAGCGGGTCGTAG	0.572																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2584-2586)Ctc>Ttc		RIMS binding protein 2							87.0	91.0	89.0					12																	130898738		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130898738G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2584C>T	12.37:g.130898738G>A	ENSP00000261655:p.Leu862Phe						p.L862F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	14	2747	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	862			SH3 2.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2584C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654843	0.67472	.	.	ENSG00000060709	ENST00000261655	T	0.30448	1.53	4.37	4.37	0.52481	Src homology-3 domain (3);Variant SH3 (1);	0.156920	0.44285	D	0.000471	T	0.30386	0.0763	L	0.31476	0.935	0.80722	D	1	P	0.49307	0.922	P	0.52554	0.702	T	0.01982	-1.1235	10	0.14252	T	0.57	-30.3853	12.4072	0.55447	0.0:0.0:0.8317:0.1683	.	862	O15034	RIMB2_HUMAN	F	862	ENSP00000261655:L862F	ENSP00000261655:L862F	L	-	1	0	RIMBP2	129464691	0.997000	0.39634	0.899000	0.35326	0.990000	0.78478	2.452000	0.44961	2.117000	0.64856	0.650000	0.86243	CTC		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		100	496	0	0	0	1	0	100	496				
PHF10	55274	broad.mit.edu	37	6	170118947	170118947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170118947A>G	ENST00000339209.4	-	3	385	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	88					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TGAAGCATATAGTATTCTCCT	0.303																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(262-264)Tat>Cat		PHD finger protein 10							78.0	84.0	82.0					6																	170118947		2203	4291	6494	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170118947A>G	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.262T>C	6.37:g.170118947A>G	ENSP00000341805:p.Tyr88His					PHF10_ENST00000464779.1_5'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H	p.Y88H	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	3	385	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	88					Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.262T>C	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646541	0.87958	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	5.49	5.49	0.81192	.	.	.	.	.	T	0.45935	0.1367	M	0.69823	2.125	0.46376	D	0.999012	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.50882	-0.8775	9	0.87932	D	0	.	13.6157	0.62105	1.0:0.0:0.0:0.0	.	88;88	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	H	88	ENSP00000355743:Y88H;ENSP00000341805:Y88H	ENSP00000341805:Y88H	Y	-	1	0	PHF10	169860872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.594000	0.90836	2.199000	0.70637	0.455000	0.32223	TAT		0.303	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		78	371	0	0	0	1	0	78	371				
ZNF221	7638	broad.mit.edu	37	19	44471258	44471258	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44471258A>C	ENST00000251269.5	+	6	1932	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T|ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGCTATACAAATGTGAGCAG	0.433																																						ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1603-1605)aAa>aCa		zinc finger protein 221							94.0	88.0	90.0					19																	44471258		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471258A>C	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1604A>C	19.37:g.44471258A>C	ENSP00000251269:p.Lys535Thr					ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T|ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T	p.K535T	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			6	1932	+		Prostate(69;0.0352)	535					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1604A>C	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	a	14.11	2.437523	0.43224	.	.	ENSG00000159905	ENST00000251269	T	0.08458	3.09	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	L	0.49699	1.58	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.04065	-1.0980	9	0.54805	T	0.06	.	7.2124	0.25941	0.7731:0.2269:0.0:0.0	.	535	Q9UK13	ZN221_HUMAN	T	535	ENSP00000251269:K535T	ENSP00000251269:K535T	K	+	2	0	ZNF221	49163098	0.000000	0.05858	0.009000	0.14445	0.233000	0.25261	-0.227000	0.09126	1.319000	0.45190	0.379000	0.24179	AAA		0.433	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			94	397	0	0	0	1	0	94	397				
GBX2	2637	broad.mit.edu	37	2	237076102	237076102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076102C>A	ENST00000306318.4	-	1	910	c.513G>T	c.(511-513)caG>caT	p.Q171H	GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H|GBX2_ENST00000465889.1_5'Flank|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	171				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGAGCGAAGCCTGCACCGTCT	0.756																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(511-513)caG>caT		gastrulation brain homeobox 2							10.0	11.0	10.0					2																	237076102		2073	4094	6167	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237076102C>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.513G>T	2.37:g.237076102C>A	ENSP00000302251:p.Gln171His					AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H	p.Q171H	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	1	910	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	171	LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).				B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.513G>T	CCDS2515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.376234|1.376234	0.24857|0.24857	.|.	.|.	ENSG00000233611|ENSG00000168505	ENST00000415226|ENST00000306318;ENST00000551105	.|D	.|0.91996	.|-2.95	4.28|4.28	2.41|2.41	0.29592|0.29592	.|.	.|0.246616	.|0.34088	.|N	.|0.004272	T|T	0.80423|0.80423	0.4620|0.4620	N|N	0.08118|0.08118	0|0	0.26482|0.26482	N|N	0.975095|0.975095	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.68777|0.68777	-0.5319|-0.5319	5|10	.|0.33940	.|T	.|0.23	-14.2715|-14.2715	7.5684|7.5684	0.27894|0.27894	0.0:0.7251:0.0:0.2749|0.0:0.7251:0.0:0.2749	.|.	.|171;171	.|F8VY47;P52951	.|.;GBX2_HUMAN	M|H	5|171	.|ENSP00000302251:Q171H	.|ENSP00000302251:Q171H	L|Q	+|-	1|3	2|2	AC079135.1|GBX2	236740841|236740841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	0.786000|0.786000	0.26844|0.26844	0.761000|0.761000	0.33130|0.33130	0.462000|0.462000	0.41574|0.41574	CTG|CAG		0.756	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		24	117	1	0	6.12954e-19	1	6.81806e-19	24	117				
OR4K1	79544	broad.mit.edu	37	14	20404104	20404104	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404104C>A	ENST00000285600.4	+	1	338	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGACTATCTCCTTTGAGGGTT	0.403																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(277-279)tcC>tcA		olfactory receptor, family 4, subfamily K, member 1							154.0	158.0	156.0					14																	20404104		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404104C>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.279C>A	14.37:g.20404104C>A							p.S93S	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	338	+	all_cancers(95;0.00108)		93					B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.279C>A	CCDS32025.1																																																																																				0.403	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			98	757	1	0	2.65435e-51	1	3.29351e-51	98	757				
TGM1	7051	broad.mit.edu	37	14	24729184	24729184	+	Missense_Mutation	SNP	C	C	T	rs150181059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729184C>T	ENST00000206765.6	-	5	961	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	280					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATCTGTGCTTCGGTCCCGTAG	0.572																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(838-840)Gaa>Aaa		transglutaminase 1	L-Glutamine(DB00130)	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		838	5.4	1.0	14	dbSNP_134	89	0,8600		0,0,4300	no	missense	TGM1	NM_000359.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	280/818	24729184	1,13005	2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729184C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.838G>A	14.37:g.24729184C>T	ENSP00000206765:p.Glu280Lys					TGM1_ENST00000544573.1_Intron	p.E280K	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	5	961	-			280					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.838G>A	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170292	0.38315	2.27E-4	0.0	ENSG00000092295	ENST00000206765	D	0.88664	-2.41	5.39	5.39	0.77823	.	0.048812	0.85682	D	0.000000	T	0.76176	0.3951	N	0.11870	0.19	0.80722	D	1	D	0.59357	0.985	B	0.39660	0.306	T	0.76041	-0.3104	10	0.10111	T	0.7	-19.3187	13.7621	0.62973	0.0:0.8458:0.1542:0.0	.	280	P22735	TGM1_HUMAN	K	280	ENSP00000206765:E280K	ENSP00000206765:E280K	E	-	1	0	TGM1	23799024	0.001000	0.12720	0.967000	0.41034	0.969000	0.65631	0.709000	0.25734	2.800000	0.96347	0.650000	0.86243	GAA		0.572	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		15	347	0	0	0	1	0	15	347				
EYS	346007	broad.mit.edu	37	6	66205048	66205048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66205048C>T	ENST00000370621.3	-	4	782	c.256G>A	c.(256-258)Gat>Aat	p.D86N	EYS_ENST00000370618.3_Missense_Mutation_p.D86N|EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000503581.1_Missense_Mutation_p.D86N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	86					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAAGGATATCTCCTAATTGA	0.363																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(256-258)Gat>Aat		eyes shut homolog (Drosophila)							80.0	82.0	81.0					6																	66205048		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205048C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.256G>A	6.37:g.66205048C>T	ENSP00000359655:p.Asp86Asn					EYS_ENST00000370618.3_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N|EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000370621.3_Missense_Mutation_p.D86N	p.D86N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	793	-			86					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043179	0.55003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.91180	-2.14;-2.13;-2.13;-2.8;-2.77;-2.77	4.92	3.1	0.35709	.	.	.	.	.	T	0.82107	0.4965	N	0.24115	0.695	0.23381	N	0.997799	D;D;D	0.65815	0.971;0.995;0.991	P;P;P	0.59288	0.805;0.855;0.813	T	0.73487	-0.3967	9	0.30078	T	0.28	.	7.7935	0.29133	0.0:0.8008:0.0:0.1992	.	86;86;86	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	86	ENSP00000424243:D86N;ENSP00000359655:D86N;ENSP00000359650:D86N;ENSP00000377042:D86N;ENSP00000341818:D86N;ENSP00000359652:D86N	ENSP00000341818:D86N	D	-	1	0	EYS	66261769	1.000000	0.71417	0.312000	0.25196	0.448000	0.32197	3.507000	0.53371	0.555000	0.29079	0.591000	0.81541	GAT		0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		72	416	0	0	0	1	0	72	416				
CLPTM1	1209	broad.mit.edu	37	19	45489787	45489787	+	Silent	SNP	C	C	T	rs11541460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45489787C>T	ENST00000337392.5	+	7	897	c.747C>T	c.(745-747)gaC>gaT	p.D249D	CLPTM1_ENST00000546079.1_Silent_p.D147D|CLPTM1_ENST00000541297.2_Silent_p.D235D|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	249					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGTGGACGACCACACGCCGT	0.622																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(703-705)gaC>gaT		cleft lip and palate associated transmembrane protein 1							154.0	118.0	130.0					19																	45489787		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45489787C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.747C>T	19.37:g.45489787C>T						CLPTM1_ENST00000546079.1_Silent_p.D147D|CLPTM1_ENST00000337392.5_Silent_p.D249D|CLPTM1_ENST00000589158.1_3'UTR	p.D235D			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	7	1170	+		all_neural(266;0.224)|Ovarian(192;0.231)	249					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.705C>T	CCDS12651.1																																																																																				0.622	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		68	347	0	0	0	1	0	68	347				
COL7A1	1294	broad.mit.edu	37	3	48612815	48612815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48612815C>T	ENST00000328333.8	-	73	6244	c.6137G>A	c.(6136-6138)gGc>gAc	p.G2046D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2046	Triple-helical region.		G -> V (in DDEB).		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGCCCTGCCTGGGAGCCC	0.721																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CM992849	COL7A1	M		c.(6136-6138)gGc>gAc		collagen, type VII, alpha 1							18.0	20.0	19.0					3																	48612815		2200	4294	6494	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612815C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6137G>A	3.37:g.48612815C>T	ENSP00000332371:p.Gly2046Asp					COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	p.G2046D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	73	6244	-			2046		G -> V (in DDEB).	Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6137G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122614	0.56613	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99353	-5.77;-5.77	5.22	5.22	0.72569	.	0.433234	0.17763	N	0.162822	D	0.99736	0.9896	H	0.99011	4.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97496	1.0057	10	0.72032	D	0.01	.	18.7955	0.91993	0.0:1.0:0.0:0.0	.	2046	Q02388	CO7A1_HUMAN	D	2046;2014	ENSP00000332371:G2046D;ENSP00000412569:G2014D	ENSP00000332371:G2046D	G	-	2	0	COL7A1	48587819	1.000000	0.71417	0.977000	0.42913	0.921000	0.55340	7.570000	0.82390	2.426000	0.82243	0.563000	0.77884	GGC		0.721	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		46	208	0	0	0	1	0	46	208				
CD40	958	broad.mit.edu	37	20	44756855	44756855	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44756855T>C	ENST00000372285.3	+	7	710	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Silent_p.G192G	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	213					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				TTGGTGCTGGTCTTTATCAGT	0.542									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(637-639)gTc>gCc		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						162.0	144.0	150.0					20																	44756855		2203	4300	6503	SO:0001583	missense	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44756855T>C	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.638T>C	20.37:g.44756855T>C	ENSP00000361359:p.Val213Ala		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	926	CD40_ENST00000372276.3_Silent_p.G192G|CD40_ENST00000489304.1_3'UTR	p.V213A	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN			7	710	+		Myeloproliferative disorder(115;0.0122)	213					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.638T>C	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	T	6.980	0.550845	0.13374	.	.	ENSG00000101017	ENST00000372285	T	0.74737	-0.87	4.59	-1.44	0.08856	.	2587.460000	0.00166	N	0.000001	T	0.52468	0.1736	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29579	-1.0007	9	0.18276	T	0.48	-0.4864	1.3084	0.02092	0.164:0.15:0.1661:0.5199	.	213	P25942	TNR5_HUMAN	A	213	ENSP00000361359:V213A	ENSP00000361359:V213A	V	+	2	0	CD40	44190262	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-0.453000	0.06778	0.064000	0.16427	0.402000	0.26972	GTC		0.542	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		15	521	0	0	0	1	0	15	521				
TECTA	7007	broad.mit.edu	37	11	121031011	121031011	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha	1619	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.		C -> S (in DFNA12; dbSNP:rs28939691). {ECO:0000269|PubMed:10196713}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAAGTGTGCGGTCTCTGTG	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4855-4857)tgC>tgT		tectorin alpha							135.0	129.0	131.0					11																	121031011		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121031011C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4857C>T	11.37:g.121031011C>T						TECTA_ENST00000264037.2_Silent_p.C1619C	p.C1619C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	15	5128	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1619		C -> S (in DFNA12; dbSNP:rs28939691).	VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4857C>T	CCDS8434.1																																																																																				0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		149	625	0	0	0	1	0	149	625				
OR1D4	653166	broad.mit.edu	37	17	3144044	3144044	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3144044G>A	ENST00000531680.1	+	0	75					NR_033795.1		P47884	OR1D4_HUMAN	olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										AGCAGCAGCAGATCCTGTTTT	0.512																																						ENST00000531680.1																			0													olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																																						653166							g.chr17:3144044G>A	U04681		17p13.3	2014-03-20	2010-07-19		ENSG00000255095	ENSG00000255095		"""GPCR / Class A : Olfactory receptors"""	8185	protein-coding gene	gene with protein product			"""olfactory receptor, family 1, subfamily D, member 4"""			8004088, 10673334	Standard	NR_033795		Approved	OR17-30	uc002fvf.3	P47884	OTTHUMG00000166844		17.37:g.3144044G>A								NR_033795.1						0	75	+								Q96RA5|Q9UM75	RNA	SNP	ENST00000531680.1	37																																																																																						0.512	OR1D4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391569.1	NM_003552		76	361	0	0	0	1	0	76	361				
IGDCC4	57722	broad.mit.edu	37	15	65682504	65682504	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65682504G>T	ENST00000352385.2	-	13	2606	c.2397C>A	c.(2395-2397)acC>acA	p.T799T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	799	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGTGTAATAGGTGACCAGGG	0.532																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2395-2397)acC>acA		immunoglobulin superfamily, DCC subclass, member 4							74.0	71.0	72.0					15																	65682504		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65682504G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2397C>A	15.37:g.65682504G>T							p.T799T	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			13	2606	-			799			Fibronectin type-III 4.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.2397C>A	CCDS10206.1																																																																																				0.532	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		47	277	1	0	4.01344e-20	1	4.48984e-20	47	277				
TBC1D9	23158	broad.mit.edu	37	4	141591969	141591969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141591969G>T	ENST00000442267.2	-	7	1245	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	391							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTGCACTAGAAAGTCTCTA	0.453																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1171-1173)Cta>Ata		TBC1 domain family, member 9 (with GRAM domain)							151.0	151.0	151.0					4																	141591969		1905	4113	6018	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141591969G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1171C>A	4.37:g.141591969G>T	ENSP00000411197:p.Leu391Ile						p.L391I	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			7	1245	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	391					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1171C>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414502	0.83449	.	.	ENSG00000109436	ENST00000442267	T	0.11169	2.8	5.45	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.79475	2.455	0.80722	D	1	D	0.56035	0.974	P	0.58013	0.831	T	0.02294	-1.1181	10	0.49607	T	0.09	-4.1014	11.3372	0.49511	0.1577:0.0:0.8423:0.0	.	391	Q6ZT07	TBCD9_HUMAN	I	391	ENSP00000411197:L391I	ENSP00000411197:L391I	L	-	1	2	TBC1D9	141811419	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.760000	0.62235	1.333000	0.45449	0.650000	0.86243	CTA		0.453	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		90	443	1	0	8.47766e-36	1	1.01331e-35	90	443				
AUH	549	broad.mit.edu	37	9	93978386	93978386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93978386G>A	ENST00000375731.4	-	9	920	c.897C>T	c.(895-897)gtC>gtT	p.V299V	AUH_ENST00000303617.5_Silent_p.V270V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	299					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACTAAATCGACCTGAGAAT	0.338																																						ENST00000375731.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(895-897)gtC>gtT		AU RNA binding protein/enoyl-CoA hydratase							117.0	109.0	112.0					9																	93978386		2203	4300	6503	SO:0001819	synonymous_variant	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:93978386G>A	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.897C>T	9.37:g.93978386G>A						AUH_ENST00000303617.5_Silent_p.V270V	p.V299V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN			9	920	-			299					B1ALV7|B1ALV8|Q8WUE4	Silent	SNP	ENST00000375731.4	37	c.897C>T	CCDS6689.1																																																																																				0.338	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1			50	232	0	0	0	1	0	50	232				
SOHLH1	402381	broad.mit.edu	37	9	138586218	138586218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138586218C>T	ENST00000298466.5	-	7	1021	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	321					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCTGAACCCAGGGCCCCAC	0.647																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(961-963)Ggg>Agg		spermatogenesis and oogenesis specific basic helix-loop-helix 1							55.0	52.0	53.0					9																	138586218		2203	4298	6501	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586218C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.961G>A	9.37:g.138586218C>T	ENSP00000298466:p.Gly321Arg					SOHLH1_ENST00000425225.1_Intron	p.G321R	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	7	1021	-		Myeloproliferative disorder(178;0.0511)	321					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.961G>A	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522289	0.13066	.	.	ENSG00000165643	ENST00000298466	T	0.42513	0.97	1.82	1.82	0.25136	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	0.999999	P	0.35923	0.528	B	0.25884	0.064	T	0.09952	-1.0651	9	0.08599	T	0.76	.	7.183	0.25784	0.0:1.0:0.0:0.0	.	321	Q5JUK2	SOLH1_HUMAN	R	321	ENSP00000298466:G321R	ENSP00000298466:G321R	G	-	1	0	SOHLH1	137726039	0.000000	0.05858	0.003000	0.11579	0.048000	0.14542	-1.355000	0.02612	1.331000	0.45412	0.442000	0.29010	GGG		0.647	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		28	200	0	0	0	1	0	28	200				
KCNK1	3775	broad.mit.edu	37	1	233802583	233802583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802583G>A	ENST00000366621.3	+	2	766	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	200					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CTTCATCCCGGCCGCTGTCTT	0.532																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(598-600)Gcc>Acc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						154.0	136.0	142.0					1																	233802583		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802583G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.598G>A	1.37:g.233802583G>A	ENSP00000355580:p.Ala200Thr					KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T	p.A200T	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	766	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	200					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.598G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331415	0.95733	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.98400	1.41;-4.91;-4.91	5.7	5.7	0.88788	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99806	1.1038	10	0.59425	D	0.04	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	200	O00180	KCNK1_HUMAN	T	200;84;118	ENSP00000355580:A200T;ENSP00000355579:A84T;ENSP00000409626:A118T	ENSP00000355579:A84T	A	+	1	0	KCNK1	231869206	1.000000	0.71417	0.281000	0.24762	0.877000	0.50540	9.612000	0.98347	2.683000	0.91414	0.655000	0.94253	GCC		0.532	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		96	541	0	0	0	1	0	96	541				
CIPC	85457	broad.mit.edu	37	14	77580103	77580103	+	Silent	SNP	G	G	A	rs546253011	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77580103G>A	ENST00000361786.2	+	4	959	c.642G>A	c.(640-642)acG>acA	p.T214T	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		214					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GTCCCTCGACGCCAGCACCAC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18925	0.0		0.0	False		,,,				2504	0.002					ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(640-642)acG>acA		KIAA1737							46.0	44.0	45.0					14																	77580103		2203	4300	6503	SO:0001819	synonymous_variant	85457							g.chr14:77580103G>A																												ENST00000361786.2:c.642G>A	14.37:g.77580103G>A						RP11-463C8.4_ENST00000557752.1_Intron	p.T214T	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	959	+			214					B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	37	c.642G>A	CCDS9855.1																																																																																				0.582	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			35	232	0	0	0	1	0	35	232				
ARRDC4	91947	broad.mit.edu	37	15	98513913	98513913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98513913C>T	ENST00000268042.6	+	7	1304	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	ARRDC4_ENST00000538249.1_Silent_p.C293C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	380					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GAGAAGTGTGCTGTCCTGTGT	0.418																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(1138-1140)tgC>tgT		arrestin domain containing 4							122.0	102.0	108.0					15																	98513913		2197	4298	6495	SO:0001819	synonymous_variant	91947				signal transduction			g.chr15:98513913C>T	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1140C>T	15.37:g.98513913C>T						ARRDC4_ENST00000538249.1_Silent_p.C293C	p.C380C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		7	1304	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		380					Q6NSI9	Silent	SNP	ENST00000268042.6	37	c.1140C>T	CCDS10377.1																																																																																				0.418	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		76	354	0	0	0	1	0	76	354				
OR52N4	390072	broad.mit.edu	37	11	5776325	5776325	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5776325C>A	ENST00000317254.3	+	1	403	c.355C>A	c.(355-357)Ctt>Att	p.L119I	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTGCTTATGCTTATGGCCCT	0.488																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(355-357)Ctt>Att		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							168.0	164.0	165.0					11																	5776325		2201	4297	6498	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776325C>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.355C>A	11.37:g.5776325C>A	ENSP00000323224:p.Leu119Ile					TRIM5_ENST00000380027.1_Intron	p.L119I	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	403	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	119					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.355C>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133435	0.37630	.	.	ENSG00000181074	ENST00000317254	T	0.02837	4.14	5.97	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000543	T	0.07818	0.0196	L	0.35542	1.07	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.12400	-1.0549	10	0.66056	D	0.02	.	9.7107	0.40243	0.0:0.7793:0.1439:0.0768	.	119	Q8NGI2	O52N4_HUMAN	I	119	ENSP00000323224:L119I	ENSP00000323224:L119I	L	+	1	0	OR52N4	5732901	0.019000	0.18553	0.998000	0.56505	0.737000	0.42083	0.191000	0.17076	2.834000	0.97654	0.557000	0.71058	CTT		0.488	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		24	501	1	0	3.08376e-08	1	3.21767e-08	24	501				
C6orf136	221545	broad.mit.edu	37	6	30614342	30614342	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30614342C>A	ENST00000376473.5	+	0	0				ATAT1_ENST00000330083.5_Silent_p.S384S|C6orf136_ENST00000376471.4_5'Flank|ATAT1_ENST00000376478.2_Silent_p.S373S|AL662800.2_ENST00000583820.1_RNA|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376485.4_Silent_p.S396S|C6orf136_ENST00000293604.6_5'Flank	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAGCCCAGTCCTGGACAGTGG	0.632																																						ENST00000330083.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1150-1152)tcC>tcA		alpha tubulin acetyltransferase 1							12.0	15.0	14.0					6																	30614342		1303	2553	3856	SO:0001631	upstream_gene_variant	79969						tubulin N-acetyltransferase activity	g.chr6:30614342C>A	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221		6.37:g.30614342C>A	Exception_encountered					ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376478.2_Silent_p.S373S|ATAT1_ENST00000376485.4_Silent_p.S396S	p.S384S	NM_001031722.2	NP_001026892.1	Q5SQI0	ATAT_HUMAN			13	1470	+			396					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Silent	SNP	ENST00000376473.5	37	c.1152C>A	CCDS43443.1																																																																																				0.632	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		5	39	1	0	0.0293803	1	0.0294705	5	39				
PSMD12	5718	broad.mit.edu	37	17	65337095	65337095	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65337095A>G	ENST00000356126.3	-	11	1342	c.1235T>C	c.(1234-1236)aTt>aCt	p.I412T	PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	412	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAAGTTGATAATTCCTGCTAA	0.368																																						ENST00000356126.3																			0				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13						c.(1234-1236)aTt>aCt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							88.0	89.0	89.0					17																	65337095		2203	4299	6502	SO:0001583	missense	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65337095A>G	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1235T>C	17.37:g.65337095A>G	ENSP00000348442:p.Ile412Thr					PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	p.I412T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN			11	1342	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		412			PCI.		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	c.1235T>C	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965439	0.74131	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.30981	1.51;1.51	4.81	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.099183	0.64402	D	0.000002	T	0.52435	0.1734	M	0.71036	2.16	0.80722	D	1	D;B	0.57257	0.979;0.43	D;P	0.64877	0.93;0.697	T	0.56074	-0.8039	10	0.56958	D	0.05	-7.9757	14.3834	0.66926	1.0:0.0:0.0:0.0	.	392;412	A6NP15;O00232	.;PSD12_HUMAN	T	412;392	ENSP00000348442:I412T;ENSP00000349667:I392T	ENSP00000348442:I412T	I	-	2	0	PSMD12	62767557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.894000	0.92506	1.808000	0.52836	0.397000	0.26171	ATT		0.368	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		67	321	0	0	0	1	0	67	321				
GJA8	2703	broad.mit.edu	37	1	147381090	147381090	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381090G>A	ENST00000369235.1	+	1	1008	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	GJA8_ENST00000240986.4_Silent_p.P336P			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	336					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCGAGGGGCCGCCTGCAGAGG	0.657																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1006-1008)ccG>ccA		gap junction protein, alpha 8, 50kDa							27.0	27.0	27.0					1																	147381090		2202	4299	6501	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381090G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1008G>A	1.37:g.147381090G>A						GJA8_ENST00000369235.1_Silent_p.P336P	p.P336P	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	1061	+	all_hematologic(923;0.0276)		336					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.1008G>A	CCDS30834.1																																																																																				0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		24	79	0	0	0	1	0	24	79				
DMD	1756	broad.mit.edu	37	X	32827617	32827617	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32827617A>G	ENST00000357033.4	-	7	848	c.642T>C	c.(640-642)gaT>gaC	p.D214D	DMD_ENST00000378677.2_Silent_p.D210D|DMD_ENST00000288447.4_Silent_p.D206D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	214	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACCTTCAGGATCGAGTAGTT	0.393																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(640-642)gaT>gaC		dystrophin							170.0	128.0	142.0					X																	32827617		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32827617A>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.642T>C	X.37:g.32827617A>G						DMD_ENST00000288447.4_Silent_p.D206D|DMD_ENST00000378677.2_Silent_p.D210D	p.D214D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			7	848	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	214			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.642T>C	CCDS14233.1																																																																																				0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		68	233	0	0	0	1	0	68	233				
SIX3	6496	broad.mit.edu	37	2	45169644	45169644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169644C>T	ENST00000260653.3	+	1	743	c.401C>T	c.(400-402)gCg>gTg	p.A134V	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	134					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCCTGCGCGCGCGCGCCGTG	0.667																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(400-402)gCg>gTg		SIX homeobox 3							12.0	15.0	14.0					2																	45169644		2072	4118	6190	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45169644C>T	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.401C>T	2.37:g.45169644C>T	ENSP00000260653:p.Ala134Val						p.A134V	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN			1	743	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	134					D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.401C>T	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548820	0.65311	.	.	ENSG00000138083	ENST00000260653	D	0.97209	-4.29	3.03	3.03	0.35002	.	0.000000	0.64402	U	0.000002	D	0.98061	0.9361	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	D	0.98487	1.0608	10	0.62326	D	0.03	.	13.7481	0.62887	0.0:1.0:0.0:0.0	.	134	O95343	SIX3_HUMAN	V	134	ENSP00000260653:A134V	ENSP00000260653:A134V	A	+	2	0	SIX3	45023148	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.354000	0.79424	1.509000	0.48786	0.484000	0.47621	GCG		0.667	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		7	168	0	0	0	1	0	7	168				
MCOLN1	57192	broad.mit.edu	37	19	7595335	7595335	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595335T>C	ENST00000264079.6	+	12	1648	c.1523T>C	c.(1522-1524)aTg>aCg	p.M508T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	508					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCATCTACATGGTGCTCAGC	0.627																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1522-1524)aTg>aCg		mucolipin 1							250.0	235.0	240.0					19																	7595335		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595335T>C	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1523T>C	19.37:g.7595335T>C	ENSP00000264079:p.Met508Thr						p.M508T	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1648	+			508					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1523T>C	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.025915	0.54683	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.69926	-0.44	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.71581	2.175	0.80722	D	1	B;P	0.36647	0.198;0.563	B;B	0.37989	0.234;0.262	T	0.68922	-0.5281	10	0.45353	T	0.12	.	13.1711	0.59599	0.0:0.0:0.0:1.0	.	473;508	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	T	508;473	ENSP00000264079:M508T	ENSP00000264079:M508T	M	+	2	0	MCOLN1	7501335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.005000	0.58758	0.460000	0.39030	ATG		0.627	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		20	1660	0	0	0	1	0	20	1660				
PASK	23178	broad.mit.edu	37	2	242051830	242051830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242051830G>A	ENST00000405260.1	-	15	4056	c.3358C>T	c.(3358-3360)Cgc>Tgc	p.R1120C	PASK_ENST00000234040.4_Missense_Mutation_p.R1120C|PASK_ENST00000539818.1_Missense_Mutation_p.R904C|PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R1120C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCCTTCAAGCGCAGGTATCCC	0.458																																						ENST00000405260.1																			2	Substitution - Missense(2)	p.R1120C(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3358-3360)Cgc>Tgc		PAS domain containing serine/threonine kinase							69.0	63.0	65.0					2																	242051830		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242051830G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3358C>T	2.37:g.242051830G>A	ENSP00000384016:p.Arg1120Cys					PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000234040.4_Missense_Mutation_p.R1120C|PASK_ENST00000539818.1_Missense_Mutation_p.R904C	p.R1120C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	15	4056	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1120			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3358C>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158454	0.57368	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236607	0.29730	N	0.011349	T	0.73776	0.3630	L	0.37697	1.125	0.47737	D	0.999505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.979;0.979;0.991	T	0.75121	-0.3429	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	1085;934;1127;1120	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	C	1120;934;1120;1127;904	ENSP00000234040:R1120C;ENSP00000441374:R934C;ENSP00000384016:R1120C;ENSP00000351475:R1127C;ENSP00000443083:R904C	ENSP00000234040:R1120C	R	-	1	0	PASK	241700503	1.000000	0.71417	0.926000	0.36857	0.043000	0.13939	7.039000	0.76544	2.744000	0.94065	0.655000	0.94253	CGC		0.458	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		55	162	0	0	0	1	0	55	162				
RIBC1	158787	broad.mit.edu	37	X	53456828	53456828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53456828G>A	ENST00000375327.3	+	6	724	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	191										lung(2)	2						GCTGCGCCTCGCCATGGATGC	0.577																																						ENST00000375327.3																			0				lung(2)	2						c.(571-573)Gcc>Acc		RIB43A domain with coiled-coils 1							74.0	57.0	63.0					X																	53456828		2203	4300	6503	SO:0001583	missense	158787							g.chrX:53456828G>A	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.571G>A	X.37:g.53456828G>A	ENSP00000364476:p.Ala191Thr					RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T	p.A191T	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN			6	724	+			191					B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	c.571G>A	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610732	0.46527	.	.	ENSG00000158423	ENST00000414955;ENST00000375327	T;T	0.23348	1.91;1.91	5.6	5.6	0.85130	.	0.265038	0.36482	N	0.002566	T	0.30008	0.0751	M	0.69823	2.125	0.09310	N	0.999999	D;P	0.53151	0.958;0.835	B;B	0.41466	0.358;0.147	T	0.37596	-0.9699	10	0.23302	T	0.38	-2.4089	15.48	0.75517	0.0:0.0:1.0:0.0	.	76;191	E9PDU2;Q8N443	.;RIBC1_HUMAN	T	76;191	ENSP00000401463:A76T;ENSP00000364476:A191T	ENSP00000364476:A191T	A	+	1	0	RIBC1	53473553	0.919000	0.31177	0.454000	0.27019	0.407000	0.30961	4.732000	0.62029	2.364000	0.80123	0.384000	0.25694	GCC		0.577	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		45	141	0	0	0	1	0	45	141				
FOXD2	2306	broad.mit.edu	37	1	47904305	47904305	+	Missense_Mutation	SNP	G	G	T	rs201282916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47904305G>T	ENST00000334793.5	+	1	2617	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	166					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		ACTACCGGGAGAAGTTCCCCG	0.627																																						ENST00000334793.5																			0				lung(4)	4						c.(496-498)gaG>gaT		forkhead box D2		G	ASP/GLU	0,4406		0,0,2203	50.0	63.0	59.0		498	4.2	1.0	1		59	2,8598	1.2+/-3.3	0,2,4298	no	missense	FOXD2	NM_004474.3	45	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging	166/496	47904305	2,13004	2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904305G>T	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.498G>T	1.37:g.47904305G>T	ENSP00000335493:p.Glu166Asp						p.E166D	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2617	+			166					Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.498G>T	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354318	0.61293	0.0	2.33E-4	ENSG00000186564	ENST00000334793	D	0.95588	-3.75	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.92100	0.7496	N	0.04245	-0.25	0.50632	D	0.999888	B	0.24963	0.115	B	0.44224	0.444	D	0.90273	0.4309	10	0.46703	T	0.11	.	15.2933	0.73882	0.0:0.0:1.0:0.0	.	166	O60548	FOXD2_HUMAN	D	166	ENSP00000335493:E166D	ENSP00000335493:E166D	E	+	3	2	FOXD2	47676892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.357000	0.52277	1.861000	0.53984	0.430000	0.28490	GAG		0.627	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		67	503	1	0	3.61411e-23	1	4.10475e-23	67	503				
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	C	T	rs140203672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624553C>T	ENST00000327930.2	-	1	700	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473													C|||	3	0.000599042	0.0	0.0029	5008	,	,		18115	0.0		0.001	False		,,,				2504	0.0					ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(673-675)cGa>cAa		olfactory receptor, family 6, subfamily X, member 1		C	GLN/ARG	2,4402	4.2+/-10.8	0,2,2200	100.0	88.0	92.0		674	-3.5	0.0	11	dbSNP_134	92	9,8589	7.1+/-27.0	2,5,4292	yes	missense	OR6X1	NM_001005188.1	43	2,7,6492	TT,TC,CC		0.1047,0.0454,0.0846	benign	225/313	123624553	11,12991	2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624553C>T	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.674G>A	11.37:g.123624553C>T	ENSP00000333724:p.Arg225Gln						p.R225Q	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	700	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	225					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.674G>A	CCDS31695.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	7.787	0.710773	0.15239	4.54E-4	0.001047	ENSG00000221931	ENST00000327930	T	0.00231	8.49	4.37	-3.5	0.04710	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.72353	2.195	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.14531	-1.0469	9	0.52906	T	0.07	-0.7425	10.4512	0.44524	0.0:0.3946:0.0:0.6054	.	225	Q8NH79	OR6X1_HUMAN	Q	225	ENSP00000333724:R225Q	ENSP00000333724:R225Q	R	-	2	0	OR6X1	123129763	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-2.044000	0.01411	-0.914000	0.03827	-0.143000	0.13931	CGA		0.473	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		83	446	0	0	0	1	0	83	446				
RFTN2	130132	broad.mit.edu	37	2	198540075	198540075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198540075G>A	ENST00000295049.4	-	1	644	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	36					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATACATATTCGTAAGCAAATT	0.368																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(106-108)taC>taT		raftlin family member 2							139.0	145.0	143.0					2																	198540075		2203	4300	6503	SO:0001819	synonymous_variant	130132					plasma membrane		g.chr2:198540075G>A	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.108C>T	2.37:g.198540075G>A							p.Y36Y	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			1	644	-			36					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	ENST00000295049.4	37	c.108C>T	CCDS2323.1																																																																																				0.368	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		60	680	0	0	0	1	0	60	680				
DCST1	149095	broad.mit.edu	37	1	155020587	155020587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155020587G>A	ENST00000295542.1	+	16	1906	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.A604T|DCST1_ENST00000423025.2_Missense_Mutation_p.A579T|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	604						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAAAGAGCAGCCTTCACCAA	0.572																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1810-1812)Gcc>Acc		DC-STAMP domain containing 1							72.0	72.0	72.0					1																	155020587		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155020587G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1810G>A	1.37:g.155020587G>A	ENSP00000295542:p.Ala604Thr					DCST1_ENST00000423025.2_Missense_Mutation_p.A579T|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T|DCST1_ENST00000392480.1_Missense_Mutation_p.A604T	p.A604T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		16	1906	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		604					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1810G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657818	0.67586	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.21543	2.0;2.02;2.0;2.02	4.8	4.8	0.61643	.	0.593582	0.16979	N	0.191770	T	0.08133	0.0203	L	0.43923	1.385	0.32777	N	0.502987	P;P	0.36733	0.567;0.567	B;B	0.33196	0.159;0.159	T	0.14448	-1.0472	10	0.13470	T	0.59	-25.4752	15.3669	0.74529	0.0:0.0:1.0:0.0	.	579;604	E9PHV3;Q5T197	.;DCST1_HUMAN	T	604;604;579;604	ENSP00000295542:A604T;ENSP00000376271:A604T;ENSP00000387369:A579T;ENSP00000357404:A604T	ENSP00000295542:A604T	A	+	1	0	DCST1	153287211	0.943000	0.32029	0.997000	0.53966	0.853000	0.48598	2.215000	0.42862	2.481000	0.83766	0.586000	0.80456	GCC		0.572	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		66	171	0	0	0	1	0	66	171				
FBN2	2201	broad.mit.edu	37	5	127622437	127622437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127622437G>A	ENST00000508053.1	-	61	7959	c.6985C>T	c.(6985-6987)Cga>Tga	p.R2329*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*			P35556	FBN2_HUMAN	fibrillin 2	2329	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGGGCCTTCGGGCCATTCCA	0.517																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6985-6987)Cga>Tga		fibrillin 2							146.0	123.0	131.0					5																	127622437		2203	4300	6503	SO:0001587	stop_gained	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127622437G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6985C>T	5.37:g.127622437G>A	ENSP00000424571:p.Arg2329*					FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*	p.R2329*			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	61	7959	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2329			EGF-like 39; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.6985C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	50	16.171019	0.99856	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.34	4.44	0.53790	.	0.116516	0.39083	N	0.001464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5877	0.76499	0.0:0.0:0.8614:0.1386	.	.	.	.	X	2329	.	ENSP00000262464:R2329X	R	-	1	2	FBN2	127650336	0.997000	0.39634	0.992000	0.48379	0.481000	0.33189	4.601000	0.61090	1.557000	0.49525	0.650000	0.86243	CGA		0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		50	230	0	0	0	1	0	50	230				
EFHB	151651	broad.mit.edu	37	3	19924048	19924048	+	Missense_Mutation	SNP	T	T	G	rs199867500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19924048T>G	ENST00000295824.9	-	12	2483	c.2322A>C	c.(2320-2322)aaA>aaC	p.K774N	EFHB_ENST00000344838.4_Missense_Mutation_p.K644N	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	774							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATACCTCTTCTTTTGATCTGG	0.299																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(2320-2322)aaA>aaC		EF-hand domain family, member B							36.0	33.0	34.0					3																	19924048		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19924048T>G	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2322A>C	3.37:g.19924048T>G	ENSP00000295824:p.Lys774Asn					EFHB_ENST00000344838.4_Missense_Mutation_p.K644N	p.K774N	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			12	2483	-			774					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2322A>C	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914093	0.33815	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34275	3.05;1.37	5.55	-0.721	0.11189	.	0.109069	0.64402	D	0.000010	T	0.57519	0.2059	M	0.84683	2.71	0.34471	D	0.702805	D;D	0.89917	0.999;1.0	D;D	0.73708	0.981;0.973	T	0.67902	-0.5550	9	.	.	.	-23.6196	11.0307	0.47772	0.0:0.4452:0.0:0.5548	.	644;774	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	N	774;644	ENSP00000295824:K774N;ENSP00000342263:K644N	.	K	-	3	2	EFHB	19899052	0.911000	0.30947	0.488000	0.27440	0.080000	0.17528	-0.095000	0.11077	-0.056000	0.13221	-0.250000	0.11733	AAA		0.299	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		14	64	0	0	0	1	0	14	64				
PDE3A	5139	broad.mit.edu	37	12	20523167	20523167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20523167C>T	ENST00000359062.3	+	1	989	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	317					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCCCTGTATACCGAGGGAACA	0.607																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(949-951)Ccg>Tcg		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						26.0	25.0	26.0					12																	20523167		2201	4298	6499	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20523167C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.949C>T	12.37:g.20523167C>T	ENSP00000351957:p.Pro317Ser					RP11-284H19.1_ENST00000535755.1_RNA	p.P317S	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			1	989	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	317					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.949C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739562	0.49045	.	.	ENSG00000172572	ENST00000359062	T	0.58358	0.34	4.58	4.58	0.56647	.	1.848920	0.02208	N	0.062869	T	0.37100	0.0991	N	0.16368	0.405	0.36182	D	0.849498	B	0.24132	0.098	B	0.17979	0.02	T	0.34675	-0.9819	10	0.02654	T	1	.	11.1176	0.48270	0.0:0.914:0.0:0.086	.	317	Q14432	PDE3A_HUMAN	S	317	ENSP00000351957:P317S	ENSP00000351957:P317S	P	+	1	0	PDE3A	20414434	0.997000	0.39634	0.983000	0.44433	0.938000	0.57974	5.258000	0.65479	2.529000	0.85273	0.650000	0.86243	CCG		0.607	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			41	157	0	0	0	1	0	41	157				
C1orf101	257044	broad.mit.edu	37	1	244724424	244724424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244724424G>A	ENST00000366534.4	+	10	1538	c.1484G>A	c.(1483-1485)aGc>aAc	p.S495N	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	495						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCAAATGACAGCATTATTCAT	0.328																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1483-1485)aGc>aAc		chromosome 1 open reading frame 101							83.0	83.0	83.0					1																	244724424		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244724424G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1484G>A	1.37:g.244724424G>A	ENSP00000355492:p.Ser495Asn					C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N	p.S495N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1538	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		495					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.1484G>A	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478964	0.63849	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.95	4.02	0.46733	.	0.284401	0.30732	N	0.008986	T	0.37265	0.0997	L	0.59436	1.845	0.21652	N	0.999608	D;D;D;D	0.76494	0.999;0.996;0.999;0.965	D;D;D;P	0.74023	0.982;0.923;0.951;0.832	T	0.06006	-1.0851	10	0.59425	D	0.04	.	8.5598	0.33503	0.1052:0.0:0.8948:0.0	.	415;495;495;344	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	495;495;495;415;344	ENSP00000355492:S495N;ENSP00000355491:S495N;ENSP00000395796:S415N;ENSP00000355489:S344N	ENSP00000355489:S344N	S	+	2	0	C1orf101	242791047	0.970000	0.33590	0.629000	0.29254	0.201000	0.24016	3.323000	0.52014	2.439000	0.82584	0.563000	0.77884	AGC		0.328	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		115	344	0	0	0	1	0	115	344				
OVCH1	341350	broad.mit.edu	37	12	29624909	29624909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624909C>T	ENST00000318184.5	-	16	1681	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	561						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGGGATGCCACAGACATCTAC	0.478																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1681-1683)tGt>tAt		ovochymase 1							45.0	45.0	45.0					12																	29624909		1921	4120	6041	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29624909C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1682G>A	12.37:g.29624909C>T	ENSP00000326708:p.Cys561Tyr					OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.C561Y	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			16	1681	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		561						Missense_Mutation	SNP	ENST00000318184.5	37	c.1682G>A		.	.	.	.	.	.	.	.	.	.	C	11.07	1.531305	0.27387	.	.	ENSG00000187950	ENST00000318184	T	0.66280	-0.2	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.56790	0.2009	N	0.08118	0	0.25530	N	0.987281	D	0.65815	0.995	P	0.60682	0.878	T	0.52873	-0.8517	9	0.54805	T	0.06	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	561	Q7RTY7	OVCH1_HUMAN	Y	561	ENSP00000326708:C561Y	ENSP00000326708:C561Y	C	-	2	0	OVCH1	29516176	1.000000	0.71417	0.376000	0.26042	0.814000	0.46013	3.276000	0.51646	1.520000	0.48965	0.650000	0.86243	TGT		0.478	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		32	94	0	0	0	1	0	32	94				
STXBP1	6812	broad.mit.edu	37	9	130444685	130444685	+	Splice_Site	SNP	C	C	T	rs145304925	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130444685C>T	ENST00000373299.1	+	18	1663	c.1548C>T	c.(1546-1548)agC>agT	p.S516S	STXBP1_ENST00000481942.1_Intron|STXBP1_ENST00000373302.3_Splice_Site_p.S516S	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	516					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTTTCTCAGCGCCCGCTATG	0.512													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19747	0.0		0.001	False		,,,				2504	0.0					ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.e18-1		syntaxin binding protein 1		C	,	2,4404	4.2+/-10.8	0,2,2201	37.0	42.0	40.0		1548,1548	-0.4	1.0	9	dbSNP_134	40	15,8585	11.2+/-40.8	0,15,4285	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	STXBP1	NM_001032221.3,NM_003165.3	,	0,17,6486	TT,TC,CC		0.1744,0.0454,0.1307	,	516/595,516/604	130444685	17,12989	2203	4300	6503	SO:0001630	splice_region_variant	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130444685C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1548-1C>T	9.37:g.130444685C>T						STXBP1_ENST00000373299.1_Splice_Site_p.S516_splice|STXBP1_ENST00000481942.1_Intron	p.S516_splice	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			18	1687	+			516					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Splice_Site	SNP	ENST00000373299.1	37	c.1547_splice	CCDS35146.1																																																																																				0.512	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	Silent	6	280	0	0	0	1	0	6	280				
CLCA1	1179	broad.mit.edu	37	1	86934771	86934771	+	Silent	SNP	C	C	T	rs550010719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86934771C>T	ENST00000234701.3	+	2	468	c.117C>T	c.(115-117)atC>atT	p.I39I	CLCA1_ENST00000394711.1_Silent_p.I39I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	39					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCGTTGCAATCGACCCCAATG	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19089	0.0		0.0	False		,,,				2504	0.0					ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(115-117)atC>atT		chloride channel accessory 1							123.0	116.0	118.0					1																	86934771		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86934771C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.117C>T	1.37:g.86934771C>T						CLCA1_ENST00000394711.1_Silent_p.I39I	p.I39I			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	2	468	+		Lung NSC(277;0.239)	39					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.117C>T	CCDS709.1																																																																																				0.373	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		66	229	0	0	0	1	0	66	229				
NFATC1	4772	broad.mit.edu	37	18	77170796	77170796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77170796C>T	ENST00000427363.2	+	2	521	c.521C>T	c.(520-522)gCc>gTc	p.A174V	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A174V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	174	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CTGAGCCCGGCCAGCAGCCTG	0.662																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(520-522)gCc>gTc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							40.0	44.0	43.0					18																	77170796		2203	4299	6502	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170796C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.521C>T	18.37:g.77170796C>T	ENSP00000389377:p.Ala174Val					NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A174V	p.A174V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	890	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	174			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.521C>T		.	.	.	.	.	.	.	.	.	.	C	27.9	4.877003	0.91664	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.78816	-1.21;-1.21;-1.21	4.46	4.46	0.54185	.	0.057048	0.64402	D	0.000001	D	0.88130	0.6354	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.994;0.994;0.997;0.999;0.999;0.999;0.994	P;P;D;D;D;D;P	0.71184	0.856;0.856;0.917;0.972;0.972;0.972;0.856	D	0.90098	0.4182	10	0.72032	D	0.01	-31.3227	17.2844	0.87137	0.0:1.0:0.0:0.0	.	161;161;174;174;174;161;174	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	174;174;174;161;161;138	ENSP00000253506:A174V;ENSP00000442435:A174V;ENSP00000327850:A161V	ENSP00000253506:A174V	A	+	2	0	NFATC1	75271784	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.039000	0.76544	2.293000	0.77203	0.561000	0.74099	GCC		0.662	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		85	350	0	0	0	1	0	85	350				
STARD8	9754	broad.mit.edu	37	X	67938081	67938081	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938081G>C	ENST00000252336.6	+	5	1457	c.1085G>C	c.(1084-1086)aGc>aCc	p.S362T	STARD8_ENST00000374597.3_Missense_Mutation_p.S362T|STARD8_ENST00000374599.3_Missense_Mutation_p.S442T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	362					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAGGCTCTCAGCCAGATGGAG	0.602																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(1084-1086)aGc>aCc		StAR-related lipid transfer (START) domain containing 8							47.0	44.0	45.0					X																	67938081		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938081G>C	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1085G>C	X.37:g.67938081G>C	ENSP00000252336:p.Ser362Thr					STARD8_ENST00000374599.3_Missense_Mutation_p.S442T|STARD8_ENST00000374597.3_Missense_Mutation_p.S362T	p.S362T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1457	+			362					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1085G>C	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150056	0.00328	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07216	3.21;3.21;3.21	3.34	-0.62	0.11567	.	1.318330	0.05395	N	0.539601	T	0.02767	0.0083	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43278	-0.9401	10	0.14656	T	0.56	.	3.6177	0.08083	0.1562:0.2409:0.4911:0.1118	.	442;362	Q92502-2;Q92502	.;STAR8_HUMAN	T	362;442;362	ENSP00000252336:S362T;ENSP00000363727:S442T;ENSP00000363725:S362T	ENSP00000252336:S362T	S	+	2	0	STARD8	67854806	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.407000	0.07178	-0.286000	0.09076	-1.045000	0.02358	AGC		0.602	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		12	159	0	0	0	1	0	12	159				
VENTX	27287	broad.mit.edu	37	10	135051528	135051528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051528C>A	ENST00000325980.9	+	1	621	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	37					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACCCCCAGGCCTGCCGACTTC	0.716																																						ENST00000325980.9																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(109-111)cCt>cAt		VENT homeobox							5.0	7.0	7.0					10																	135051528		2097	4194	6291	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135051528C>A	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.110C>A	10.37:g.135051528C>A	ENSP00000357556:p.Pro37His						p.P37H	NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	621	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	37					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.110C>A	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714888	0.30413	.	.	ENSG00000151650	ENST00000325980	T	0.57595	0.39	1.9	1.9	0.25705	.	0.139797	0.48286	U	0.000196	T	0.38719	0.1051	N	0.24115	0.695	0.09310	N	1	B	0.28713	0.22	B	0.36959	0.237	T	0.38156	-0.9674	10	0.62326	D	0.03	.	7.3167	0.26505	0.0:1.0:0.0:0.0	.	37	O95231	VENTX_HUMAN	H	37	ENSP00000357556:P37H	ENSP00000357556:P37H	P	+	2	0	VENTX	134901518	0.001000	0.12720	0.048000	0.18961	0.058000	0.15608	0.204000	0.17335	1.387000	0.46486	0.393000	0.25936	CCT		0.716	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		16	54	1	0	3.45872e-05	1	3.53336e-05	16	54				
OR4P4	81300	broad.mit.edu	37	11	55406127	55406127	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55406127A>C	ENST00000314612.2	+	1	294	c.294A>C	c.(292-294)caA>caC	p.Q98H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTATGATACAACTCTTTACCA	0.448																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(292-294)caA>caC		olfactory receptor, family 4, subfamily P, member 4							116.0	100.0	106.0					11																	55406127		2179	4018	6197	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406127A>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.294A>C	11.37:g.55406127A>C	ENSP00000324831:p.Gln98His						p.Q98H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	294	+			98						Missense_Mutation	SNP	ENST00000314612.2	37	c.294A>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509718	0.27036	.	.	ENSG00000181927	ENST00000314612	T	0.00472	7.19	5.18	-1.46	0.08800	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001567	T	0.01489	0.0048	H	0.95004	3.61	0.23693	N	0.997095	D	0.76494	0.999	D	0.70227	0.968	T	0.28332	-1.0047	10	0.87932	D	0	-2.1273	6.2509	0.20845	0.3697:0.1177:0.5126:0.0	.	98	Q8NGL7	OR4P4_HUMAN	H	98	ENSP00000324831:Q98H	ENSP00000324831:Q98H	Q	+	3	2	OR4P4	55162703	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.000000	0.03693	-0.297000	0.08934	-0.261000	0.10672	CAA		0.448	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		128	543	0	0	0	1	0	128	543				
DLEC1	9940	broad.mit.edu	37	3	38139062	38139062	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38139062G>T	ENST00000308059.6	+	17	2520	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H	DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H|DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCACAAGCCAGGACCTGCTGT	0.582																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2497-2499)caG>caT		deleted in lung and esophageal cancer 1							50.0	54.0	53.0					3																	38139062		1969	4162	6131	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139062G>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2499G>T	3.37:g.38139062G>T	ENSP00000308597:p.Gln833His					DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H|DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H	p.Q833H			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	17	2520	+			833						Missense_Mutation	SNP	ENST00000308059.6	37	c.2499G>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707812	0.30322	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05139	3.51;3.49;3.72	5.06	4.12	0.48240	.	0.751776	0.12452	U	0.467648	T	0.07188	0.0182	L	0.48642	1.525	0.26044	N	0.981565	B;B;B	0.25351	0.124;0.071;0.124	B;B;B	0.21360	0.034;0.03;0.031	T	0.12993	-1.0526	10	0.35671	T	0.21	-6.1338	9.7481	0.40459	0.0:0.1505:0.6946:0.1548	.	833;833;833	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	H	833	ENSP00000308597:Q833H;ENSP00000315914:Q833H;ENSP00000410427:Q833H	ENSP00000308597:Q833H	Q	+	3	2	DLEC1	38114066	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.496000	0.35638	2.357000	0.79964	0.558000	0.71614	CAG		0.582	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		22	267	1	0	2.98393e-07	1	3.0958e-07	22	267				
APC	324	broad.mit.edu	37	5	112154761	112154761	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154761T>C	ENST00000457016.1	+	10	1412	c.1032T>C	c.(1030-1032)tgT>tgC	p.C344C	APC_ENST00000257430.4_Silent_p.C344C|APC_ENST00000508376.2_Silent_p.C344C			P25054	APC_HUMAN	adenomatous polyposis coli	344	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGACAGCTGTATATCCATGC	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1030-1032)tgT>tgC		adenomatous polyposis coli							168.0	142.0	151.0					5																	112154761		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112154761T>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1032T>C	5.37:g.112154761T>C		TSP Lung(16;0.13)				APC_ENST00000257430.4_Silent_p.C344C|APC_ENST00000508376.2_Silent_p.C344C	p.C344C			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	10	1412	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	344			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.1032T>C	CCDS4107.1																																																																																				0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		119	445	0	0	0	1	0	119	445				
MELK	9833	broad.mit.edu	37	9	36677318	36677318	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36677318C>A	ENST00000298048.2	+	18	2124	c.1940C>A	c.(1939-1941)tCt>tAt	p.S647Y	MELK_ENST00000536860.1_Missense_Mutation_p.S599Y|MELK_ENST00000541717.1_Missense_Mutation_p.S606Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000543751.1_Missense_Mutation_p.S615Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	647	Autoinhibitory region.|KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GACATCCTATCTAGCTGCAAG	0.458																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1843-1845)tCt>tAt		maternal embryonic leucine zipper kinase							75.0	72.0	73.0					9																	36677318		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36677318C>A	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1940C>A	9.37:g.36677318C>A	ENSP00000298048:p.Ser647Tyr					MELK_ENST00000536860.1_Missense_Mutation_p.S599Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000298048.2_Missense_Mutation_p.S647Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000541717.1_Missense_Mutation_p.S606Y	p.S615Y	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		17	1989	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	647			KA1.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.1844C>A	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185524	0.78677	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.79	5.79	0.91817	Kinase-associated KA1 (4);	0.144593	0.64402	D	0.000004	T	0.67268	0.2875	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.99;0.987;1.0;0.996;0.992	T	0.67688	-0.5606	10	0.87932	D	0	-9.3178	20.0371	0.97565	0.0:1.0:0.0:0.0	.	567;576;599;606;576;615;647	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	Y	647;453;516;576;599;576;606;615	ENSP00000298048:S647Y;ENSP00000438226:S453Y;ENSP00000439184:S516Y;ENSP00000445452:S576Y;ENSP00000439792:S599Y;ENSP00000443550:S576Y;ENSP00000437804:S606Y;ENSP00000441596:S615Y	ENSP00000298048:S647Y	S	+	2	0	MELK	36667318	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.259000	0.78381	2.734000	0.93682	0.655000	0.94253	TCT		0.458	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		38	142	1	0	3.62531e-18	1	4.01709e-18	38	142				
GBF1	8729	broad.mit.edu	37	10	104136495	104136495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136495C>A	ENST00000369983.3	+	32	4483	c.4223C>A	c.(4222-4224)cCt>cAt	p.P1408H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1408					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACATCACACCTGACAACTTT	0.552																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4222-4224)cCt>cAt		golgi brefeldin A resistant guanine nucleotide exchange factor 1							89.0	84.0	85.0					10																	104136495		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136495C>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4223C>A	10.37:g.104136495C>A	ENSP00000359000:p.Pro1408His						p.P1408H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	32	4483	+		Colorectal(252;0.0236)	1408					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4223C>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582242	0.86748	.	.	ENSG00000107862	ENST00000369983	T	0.34667	1.35	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.96	T	0.70769	-0.4782	10	0.87932	D	0	-11.9933	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1408;1408;1408	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1408	ENSP00000359000:P1408H	ENSP00000359000:P1408H	P	+	2	0	GBF1	104126485	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CCT		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			76	323	1	0	1.07363e-35	1	1.28291e-35	76	323				
GALNT8	26290	broad.mit.edu	37	12	4835936	4835936	+	Silent	SNP	C	C	T	rs34532073	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4835936C>T	ENST00000252318.2	+	2	787	c.450C>T	c.(448-450)aaC>aaT	p.N150N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	150					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTGGTTACAACGCGTACCTCA	0.572													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		15693	0.0		0.0	False		,,,				2504	0.0				Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(448-450)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)		C		33,4373	38.4+/-70.7	0,33,2170	81.0	74.0	76.0		450	-2.4	1.0	12	dbSNP_126	76	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	GALNT8	NM_017417.1		0,35,6468	TT,TC,CC		0.0233,0.749,0.2691		150/638	4835936	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835936C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.450C>T	12.37:g.4835936C>T						RP11-234B24.6_ENST00000544741.2_3'UTR	p.N150N	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			2	787	+			150					B2RU02	Silent	SNP	ENST00000252318.2	37	c.450C>T	CCDS8533.1																																																																																				0.572	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		8	341	0	0	0	1	0	8	341				
CES5A	221223	broad.mit.edu	37	16	55883597	55883597	+	Silent	SNP	G	G	A	rs374208521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55883597G>A	ENST00000290567.9	-	11	1483	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	CES5A_ENST00000518005.1_Silent_p.H348H|CES5A_ENST00000520435.1_Silent_p.H424H|CES5A_ENST00000521992.1_Silent_p.H483H|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	454						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTCATCAGCGTGGTCGGCTT	0.527																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1447-1449)caC>caT		carboxylesterase 5A		G	,,	0,3136		0,0,1568	155.0	135.0	141.0		1362,1449,	2.3	0.5	16		141	2,7162		0,2,3580	no	coding-synonymous,coding-synonymous,intron	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	,,	0,2,5148	AA,AG,GG		0.0279,0.0,0.0194	,,	454/576,483/605,	55883597	2,10298	1568	3582	5150	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55883597G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1362C>T	16.37:g.55883597G>A						CES5A_ENST00000518005.1_Silent_p.H348H|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.H424H|CES5A_ENST00000290567.9_Silent_p.H454H	p.H483H	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			12	1594	-			454					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.1449C>T	CCDS45490.1																																																																																				0.527	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		109	505	0	0	0	1	0	109	505				
NSUN7	79730	broad.mit.edu	37	4	40776811	40776811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776811G>T	ENST00000381782.2	+	6	1164	c.669G>T	c.(667-669)aaG>aaT	p.K223N	NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	223							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATAATTTGAAGAGAAGAGGCT	0.289																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(667-669)aaG>aaT		NOP2/Sun domain family, member 7							60.0	69.0	66.0					4																	40776811		2197	4266	6463	SO:0001583	missense	79730							g.chr4:40776811G>T	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.669G>T	4.37:g.40776811G>T	ENSP00000371201:p.Lys223Asn					NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N	p.K223N	NM_024677.4	NP_078953.3					6	1164	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.669G>T	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890198	0.52014	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.09911	2.93;2.93	5.27	4.43	0.53597	.	0.255535	0.43416	D	0.000572	T	0.16769	0.0403	L	0.58810	1.83	0.37223	D	0.905312	P;B;P	0.44946	0.846;0.404;0.842	B;B;P	0.45971	0.372;0.376;0.499	T	0.07233	-1.0783	10	0.41790	T	0.15	-11.7078	13.5116	0.61515	0.0758:0.0:0.9242:0.0	.	223;223;223	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	N	223	ENSP00000371201:K223N;ENSP00000319127:K223N	ENSP00000319127:K223N	K	+	3	2	NSUN7	40471568	1.000000	0.71417	0.822000	0.32727	0.942000	0.58702	2.565000	0.45939	1.351000	0.45789	0.655000	0.94253	AAG		0.289	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		27	354	1	0	8.58068e-18	1	9.49213e-18	27	354				
STX3	6809	broad.mit.edu	37	11	59560935	59560935	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560935T>C	ENST00000337979.4	+	8	1170	c.623T>C	c.(622-624)aTc>aCc	p.I208T	STX3_ENST00000535361.1_Missense_Mutation_p.I208T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000437946.2_Missense_Mutation_p.I111T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	208	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAGAGCAGCATCAAGGAGCTT	0.527																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(622-624)aTc>aCc		syntaxin 3							137.0	109.0	118.0					11																	59560935		2201	4295	6496	SO:0001583	missense	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59560935T>C	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.623T>C	11.37:g.59560935T>C	ENSP00000338562:p.Ile208Thr					STX3_ENST00000437946.2_Missense_Mutation_p.I111T|STX3_ENST00000337979.4_Missense_Mutation_p.I208T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T	p.I208T			Q13277	STX3_HUMAN			8	1170	+			208			t-SNARE coiled-coil homology.		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.623T>C	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587465	0.86851	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.1	5.1	0.69264	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.096090	0.64402	D	0.000001	T	0.73575	0.3604	H	0.97829	4.085	0.58432	D	0.999991	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.87578	0.998;0.994;0.989;0.994	D	0.83883	0.0280	10	0.87932	D	0	-14.0091	13.7201	0.62720	0.0:0.0:0.0:1.0	.	111;208;208;208	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	T	177;208;208;111;208;160	ENSP00000300150:I177T;ENSP00000338562:I208T;ENSP00000441649:I208T;ENSP00000393536:I111T;ENSP00000433248:I208T;ENSP00000431386:I160T	ENSP00000300150:I177T	I	+	2	0	STX3	59317511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.537000	0.82033	1.909000	0.55274	0.528000	0.53228	ATC		0.527	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		43	225	0	0	0	1	0	43	225				
MTR	4548	broad.mit.edu	37	1	237057675	237057675	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237057675A>G	ENST00000366577.5	+	30	3617	c.3223A>G	c.(3223-3225)Agc>Ggc	p.S1075G	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S1024G	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1075	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGACTCTGCCAGCACGGAGCC	0.572																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3223-3225)Agc>Ggc		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						106.0	90.0	96.0					1																	237057675		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237057675A>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3223A>G	1.37:g.237057675A>G	ENSP00000355536:p.Ser1075Gly					MTR_ENST00000535889.1_Missense_Mutation_p.S1024G|MTR_ENST00000470570.1_3'UTR	p.S1075G	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	30	3617	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1075			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3223A>G	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	7.104	0.574732	0.13623	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;D	0.82984	-0.31;-0.31;-1.67	5.47	4.27	0.50696	Vitamin B12-dependent methionine synthase, activation domain (3);	0.270973	0.39544	N	0.001330	T	0.71550	0.3353	L	0.29908	0.895	0.22896	N	0.998596	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.59621	-0.7420	10	0.38643	T	0.18	-21.5817	8.9147	0.35574	0.6747:0.0:0.0:0.3253	.	1075;1024;1075	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	G	929;1075;1024;629	ENSP00000355536:S1075G;ENSP00000441845:S1024G;ENSP00000355535:S629G	ENSP00000355535:S629G	S	+	1	0	MTR	235124298	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.676000	0.54612	2.205000	0.71048	0.533000	0.62120	AGC		0.572	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		89	253	0	0	0	1	0	89	253				
MTHFD2L	441024	broad.mit.edu	37	4	75147231	75147231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75147231G>A	ENST00000395759.2	+	7	922	c.895G>A	c.(895-897)Gga>Aga	p.G299R	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G241R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	299					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TCCAGTGACAGGAAAGACAAA	0.348																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(895-897)Gga>Aga		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							126.0	125.0	125.0					4																	75147231		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75147231G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.895G>A	4.37:g.75147231G>A	ENSP00000379108:p.Gly299Arg					MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G241R	p.G299R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		7	922	+			241					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.895G>A	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290676	0.80914	.	.	ENSG00000163738	ENST00000395759;ENST00000359107;ENST00000325278	T;T;T	0.57752	0.38;0.38;0.38	5.78	4.94	0.65067	.	0.096735	0.64402	N	0.000001	T	0.68035	0.2957	M	0.88450	2.955	0.80722	D	1	P	0.49358	0.923	P	0.53549	0.729	T	0.69756	-0.5059	10	0.21540	T	0.41	-30.5517	12.6067	0.56527	0.0805:0.0:0.9195:0.0	.	299	Q9H903	MTD2L_HUMAN	R	299;241;241	ENSP00000379108:G299R;ENSP00000352012:G241R;ENSP00000321984:G241R	ENSP00000321984:G241R	G	+	1	0	MTHFD2L	75366095	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	6.102000	0.71486	1.459000	0.47892	0.580000	0.79431	GGA		0.348	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		79	256	0	0	0	1	0	79	256				
CADM2	253559	broad.mit.edu	37	3	86010637	86010637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:86010637G>A	ENST00000407528.2	+	7	845	c.783G>A	c.(781-783)tgG>tgA	p.W261*	CADM2_ENST00000383699.3_Nonsense_Mutation_p.W270*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	261	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGTTTTGTGGACAAAGGATG	0.348																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(808-810)tgG>tgA		cell adhesion molecule 2							144.0	141.0	142.0					3																	86010637		2203	4300	6503	SO:0001587	stop_gained	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86010637G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.783G>A	3.37:g.86010637G>A	ENSP00000384575:p.Trp261*					CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.W261*	p.W270*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	8	1437	+		Lung NSC(201;0.0148)	261			Ig-like C2-type 2.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	37	c.810G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.101767	0.97286	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	.	.	.	X	270;261;263	.	ENSP00000373200:W270X	W	+	3	0	CADM2	86093327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.629000	0.89072	0.650000	0.86243	TGG		0.348	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		118	538	0	0	0	1	0	118	538				
SPACA3	124912	broad.mit.edu	37	17	31322708	31322708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31322708G>A	ENST00000269053.3	+	2	386	c.316G>A	c.(316-318)Gga>Aga	p.G106R	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.G37R|SPACA3_ENST00000394638.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	106					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CGGGCTGGACGGATACCGGGG	0.622																																						ENST00000580599.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(109-111)Gga>Aga		sperm acrosome associated 3							92.0	61.0	71.0					17																	31322708		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31322708G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.316G>A	17.37:g.31322708G>A	ENSP00000269053:p.Gly106Arg					SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000269053.3_Missense_Mutation_p.G106R|SPACA3_ENST00000394637.2_3'UTR	p.G37R			Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		3	518	+			106					Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.109G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	g	16.96	3.266508	0.59540	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.71817	-0.6	3.94	3.94	0.45596	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000001	T	0.79240	0.4412	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80752	-0.1242	10	0.87932	D	0	-9.2107	11.7831	0.52026	0.0:0.0:1.0:0.0	.	106	Q8IXA5	SACA3_HUMAN	R	106;107	ENSP00000269053:G106R	ENSP00000269053:G106R	G	+	1	0	SPACA3	28346821	1.000000	0.71417	0.440000	0.26846	0.640000	0.38277	4.350000	0.59392	2.510000	0.84645	0.443000	0.29094	GGA		0.622	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		28	156	0	0	0	1	0	28	156				
ZNF335	63925	broad.mit.edu	37	20	44592534	44592534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44592534G>T	ENST00000322927.2	-	8	1298	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	400					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGGCCACCAGGTGTCCTGGG	0.637																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1198-1200)Ctg>Atg		zinc finger protein 335							53.0	49.0	51.0					20																	44592534		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44592534G>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1198C>A	20.37:g.44592534G>T	ENSP00000325326:p.Leu400Met					ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M	p.L400M	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			8	1298	-		Myeloproliferative disorder(115;0.0122)	400					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1198C>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902203	0.17760	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09445	3.12;2.98	4.43	2.4	0.29515	.	0.911529	0.09339	N	0.815734	T	0.10551	0.0258	N	0.19112	0.55	0.09310	N	1	P;P	0.41848	0.763;0.651	P;B	0.47528	0.549;0.241	T	0.34502	-0.9826	10	0.35671	T	0.21	-2.7554	7.4038	0.26979	0.2087:0.0:0.7913:0.0	.	245;400	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	M	400;177;245	ENSP00000325326:L400M;ENSP00000397098:L245M	ENSP00000243961:L177M	L	-	1	2	ZNF335	44025941	0.001000	0.12720	0.047000	0.18901	0.374000	0.29953	0.760000	0.26475	1.077000	0.40990	0.555000	0.69702	CTG		0.637	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		32	286	1	0	3.69857e-22	1	4.18031e-22	32	286				
PCDH17	27253	broad.mit.edu	37	13	58240622	58240622	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58240622G>T	ENST00000377918.3	+	2	2612	c.2586G>T	c.(2584-2586)gaG>gaT	p.E862D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	862					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTCCCGCAGAGCCCAATTACA	0.413																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2584-2586)gaG>gaT		protocadherin 17							83.0	84.0	84.0					13																	58240622		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58240622G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2586G>T	13.37:g.58240622G>T	ENSP00000367151:p.Glu862Asp						p.E862D	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	2	2612	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	862					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2586G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479519	0.26511	.	.	ENSG00000118946	ENST00000377918	T	0.52526	0.66	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	N	0.19112	0.55	0.53688	D	0.999977	B;B	0.13594	0.002;0.008	B;B	0.13407	0.009;0.008	T	0.12734	-1.0536	9	.	.	.	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	862;862	O14917-2;O14917	.;PCD17_HUMAN	D	862	ENSP00000367151:E862D	.	E	+	3	2	PCDH17	57138623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.370000	0.73114	2.761000	0.94854	0.650000	0.86243	GAG		0.413	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		6	270	1	0	0.0293803	1	0.0294705	6	270				
PRPF18	8559	broad.mit.edu	37	10	13639487	13639487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13639487G>A	ENST00000378572.3	+	2	256	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	32					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGCGTAGTGAGCTCGCCAAAA	0.279																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.(94-96)gaG>gaA		pre-mRNA processing factor 18							91.0	92.0	92.0					10																	13639487		2203	4300	6503	SO:0001819	synonymous_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13639487G>A	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.96G>A	10.37:g.13639487G>A							p.E32E	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			2	256	+			32					Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	c.96G>A	CCDS7100.1																																																																																				0.279	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			7	212	0	0	0	1	0	7	212				
EVA1A	84141	broad.mit.edu	37	2	75720521	75720521	+	Silent	SNP	G	G	A	rs146541154		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75720521G>A	ENST00000233712.1	-	4	737	c.300C>T	c.(298-300)caC>caT	p.H100H	EVA1A_ENST00000410113.1_Silent_p.H100H|EVA1A_ENST00000393913.3_Silent_p.H100H|EVA1A_ENST00000410071.1_Silent_p.H100H|EVA1A_ENST00000410010.1_Silent_p.H88H|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	100					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CGAAGCGGCGGTGTCTCCGCA	0.627																																						ENST00000233712.1																			0											c.(298-300)caC>caT		eva-1 homolog A (C. elegans)							56.0	52.0	53.0					2																	75720521		2203	4300	6503	SO:0001819	synonymous_variant	84141							g.chr2:75720521G>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.300C>T	2.37:g.75720521G>A						EVA1A_ENST00000410010.1_Silent_p.H88H|EVA1A_ENST00000393913.3_Silent_p.H100H|EVA1A_ENST00000410071.1_Silent_p.H100H|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Silent_p.H100H	p.H100H	NM_032181.2	NP_115557.1					4	737	-								D6W5J3|Q9HC41	Silent	SNP	ENST00000233712.1	37	c.300C>T	CCDS1959.1																																																																																				0.627	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		71	310	0	0	0	1	0	71	310				
PRL	5617	broad.mit.edu	37	6	22290434	22290434	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290434A>C	ENST00000306482.1	-	4	979	c.461T>G	c.(460-462)cTt>cGt	p.L154R	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	154					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GCCCTCTAGAAGCCGTTTGGT	0.483																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(460-462)cTt>cGt		prolactin							96.0	91.0	92.0					6																	22290434		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290434A>C	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.461T>G	6.37:g.22290434A>C	ENSP00000302150:p.Leu154Arg					RP3-404K8.2_ENST00000561912.1_RNA	p.L154R	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	979	-	Ovarian(93;0.163)		154					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.461T>G	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446040	0.43429	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.95821	-3.82	5.76	4.59	0.56863	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	D	0.98207	0.9407	H	0.96662	3.86	0.80722	D	1	D;P	0.58970	0.984;0.882	D;P	0.72625	0.978;0.775	D	0.98953	1.0795	10	0.87932	D	0	-40.8675	13.3246	0.60452	0.868:0.132:0.0:0.0	.	154;155	P01236;Q5I0G2	PRL_HUMAN;.	R	154;123	ENSP00000302150:L154R	ENSP00000302150:L154R	L	-	2	0	PRL	22398413	1.000000	0.71417	0.041000	0.18516	0.163000	0.22366	4.437000	0.59955	1.089000	0.41292	0.533000	0.62120	CTT		0.483	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		7	319	0	0	0	1	0	7	319				
ZNF319	57567	broad.mit.edu	37	16	58031620	58031620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58031620G>T	ENST00000299237.2	-	2	1172	c.550C>A	c.(550-552)Ccc>Acc	p.P184T	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGTGCTGCGGGAAGCGACGGG	0.632																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(550-552)Ccc>Acc		zinc finger protein 319							88.0	108.0	101.0					16																	58031620		2197	4298	6495	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031620G>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.550C>A	16.37:g.58031620G>T	ENSP00000299237:p.Pro184Thr						p.P184T	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1172	-			184					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.550C>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774707	0.02951	.	.	ENSG00000166188	ENST00000299237	T	0.02863	4.13	3.86	2.87	0.33458	.	0.103862	0.42172	U	0.000741	T	0.01905	0.0060	L	0.29908	0.895	0.34535	D	0.709588	P	0.39480	0.675	B	0.27887	0.084	T	0.55891	-0.8069	10	0.15499	T	0.54	-12.5787	10.88	0.46933	0.0:0.0:0.8105:0.1895	.	184	Q9P2F9	ZN319_HUMAN	T	184	ENSP00000299237:P184T	ENSP00000299237:P184T	P	-	1	0	ZNF319	56589121	0.969000	0.33509	0.337000	0.25536	0.015000	0.08874	5.094000	0.64523	1.155000	0.42497	0.563000	0.77884	CCC		0.632	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			296	1113	1	0	5.34766e-72	1	6.80125e-72	296	1113				
RNF32	140545	broad.mit.edu	37	7	156468458	156468458	+	Silent	SNP	C	C	T	rs560066728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468458C>T	ENST00000405335.1	+	9	1162	c.753C>T	c.(751-753)atC>atT	p.I251I	RNF32_ENST00000432459.2_Silent_p.I251I|RNF32_ENST00000392743.2_Silent_p.I251I|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000343665.4_Silent_p.I227I|RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000311822.8_Silent_p.I251I			Q9H0A6	RNF32_HUMAN	ring finger protein 32	251						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTGCAGAAATCGATCAGTGCT	0.488																																						ENST00000405335.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(751-753)atC>atT		ring finger protein 32							153.0	147.0	149.0					7																	156468458		2203	4300	6503	SO:0001819	synonymous_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156468458C>T		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.753C>T	7.37:g.156468458C>T						RNF32_ENST00000392743.2_Silent_p.I251I|RNF32_ENST00000343665.4_Silent_p.I227I|RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000311822.8_Silent_p.I251I|RNF32_ENST00000432459.2_Silent_p.I251I|AC005534.9_ENST00000430825.1_RNA	p.I251I			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	9	1162	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	251					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	c.753C>T	CCDS5944.1																																																																																				0.488	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		99	512	0	0	0	1	0	99	512				
FGG	2266	broad.mit.edu	37	4	155528027	155528027	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155528027T>G	ENST00000336098.3	-	8	997	c.959A>C	c.(958-960)gAt>gCt	p.D320A	FGG_ENST00000404648.3_Missense_Mutation_p.D320A|FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000405164.1_Missense_Mutation_p.D328A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	320	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATCGCCAAAATCAAAGCCATC	0.468																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(958-960)gAt>gCt		fibrinogen gamma chain	Sucralfate(DB00364)						236.0	208.0	217.0					4																	155528027		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528027T>G		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.959A>C	4.37:g.155528027T>G	ENSP00000336829:p.Asp320Ala					FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000336098.3_Missense_Mutation_p.D320A|FGG_ENST00000405164.1_Missense_Mutation_p.D328A	p.D320A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			8	1198	-	all_hematologic(180;0.215)	Renal(120;0.0458)	320			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.959A>C	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081363	0.55753	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23	5.79	5.79	0.91817	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.043772	0.85682	D	0.000000	D	0.94918	0.8357	N	0.21545	0.675	0.80722	D	1	P;P;P;P;P	0.50710	0.568;0.845;0.938;0.938;0.923	B;P;P;P;P	0.50378	0.251;0.523;0.639;0.639;0.506	D	0.93618	0.6945	10	0.15499	T	0.54	.	16.1223	0.81369	0.0:0.0:0.0:1.0	.	217;328;320;328;320	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	A	320;328;320;328	ENSP00000384860:D320A;ENSP00000384101:D328A;ENSP00000336829:D320A;ENSP00000384552:D328A	ENSP00000336829:D320A	D	-	2	0	FGG	155747477	1.000000	0.71417	0.997000	0.53966	0.600000	0.36913	4.935000	0.63498	2.201000	0.70794	0.528000	0.53228	GAT		0.468	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		14	626	0	0	0	1	0	14	626				
BHLHE23	128408	broad.mit.edu	37	20	61637625	61637625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61637625G>T	ENST00000370346.2	-	1	762	c.454C>A	c.(454-456)Ctc>Atc	p.L152I		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	152	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						GCCTGCATGAGGATATAGTTC	0.697																																						ENST00000370346.2																			0				NS(1)	1						c.(454-456)Ctc>Atc		basic helix-loop-helix family, member e23							25.0	24.0	24.0					20																	61637625		2200	4297	6497	SO:0001583	missense	128408				transcription, DNA-dependent	nucleus	DNA binding	g.chr20:61637625G>T	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"""Basic helix-loop-helix proteins"""	16093	protein-coding gene	gene with protein product		609331	"""basic helix-loop-helix domain containing, class B, 4"""	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.454C>A	20.37:g.61637625G>T	ENSP00000359371:p.Leu152Ile						p.L152I	NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN			1	762	-			152			Helix-loop-helix motif.		B2RP69	Missense_Mutation	SNP	ENST00000370346.2	37	c.454C>A	CCDS33507.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795670	0.70452	.	.	ENSG00000125533	ENST00000370346	D	0.98060	-4.69	3.39	3.39	0.38822	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000002	D	0.96549	0.8874	L	0.28115	0.83	0.80722	D	1	P	0.41366	0.747	P	0.54706	0.759	D	0.95625	0.8684	10	0.37606	T	0.19	-16.4293	13.7577	0.62946	0.0:0.0:1.0:0.0	.	152	Q8NDY6	BHE23_HUMAN	I	152	ENSP00000359371:L152I	ENSP00000359371:L152I	L	-	1	0	BHLHE23	61108070	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.137000	0.64789	1.421000	0.47157	0.491000	0.48974	CTC		0.697	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080095.2	NM_080606		22	140	1	0	9.86323e-18	1	1.09066e-17	22	140				
ALDH18A1	5832	broad.mit.edu	37	10	97397085	97397085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97397085G>A	ENST00000371224.2	-	4	549	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	138	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		AGGGCCTGCCGCACGCTCTGA	0.552																																						ENST00000371224.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(412-414)Cgg>Tgg		aldehyde dehydrogenase 18 family, member A1	L-Glutamic Acid(DB00142)						115.0	102.0	106.0					10																	97397085		2203	4300	6503	SO:0001583	missense	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97397085G>A	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.412C>T	10.37:g.97397085G>A	ENSP00000360268:p.Arg138Trp					ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W|ALDH18A1_ENST00000483788.1_5'UTR	p.R138W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	4	549	-		Colorectal(252;0.0402)	138			Glutamate 5-kinase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.412C>T	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052093	0.75960	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.79454	-1.27;-1.27	5.6	1.25	0.21368	Aspartate/glutamate/uridylate kinase (3);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88794	0.3280	10	0.87932	D	0	-18.3088	13.2574	0.60087	0.0:0.0:0.4611:0.5389	.	138;138	P54886;P54886-2	P5CS_HUMAN;.	W	138	ENSP00000360268:R138W;ENSP00000360265:R138W	ENSP00000360265:R138W	R	-	1	2	ALDH18A1	97387075	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.162000	0.31786	0.261000	0.21753	0.555000	0.69702	CGG		0.552	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		77	360	0	0	0	1	0	77	360				
OR1L6	392390	broad.mit.edu	37	9	125512484	125512484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512484G>A	ENST00000373684.1	+	1	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	OR1L6_ENST00000304720.2_Missense_Mutation_p.A120T			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGCCTCTATGGCCATCGACCG	0.512																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(466-468)Gcc>Acc		olfactory receptor, family 1, subfamily L, member 6							109.0	93.0	98.0					9																	125512484		2203	4298	6501	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512484G>A		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.466G>A	9.37:g.125512484G>A	ENSP00000362788:p.Ala156Thr					OR1L6_ENST00000304720.2_Missense_Mutation_p.A120T	p.A156T			Q8NGR2	OR1L6_HUMAN			1	466	+			156					Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.466G>A		.	.	.	.	.	.	.	.	.	.	.	24.0	4.485945	0.84854	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.13307	2.6;2.6	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.45657	0.1353	M	0.90425	3.115	0.48087	D	0.999587	D	0.76494	0.999	D	0.81914	0.995	T	0.56872	-0.7907	10	0.87932	D	0	-26.7787	16.7211	0.85410	0.0:0.0:1.0:0.0	.	156	Q8NGR2	OR1L6_HUMAN	T	156;120	ENSP00000362788:A156T;ENSP00000304235:A120T	ENSP00000304235:A120T	A	+	1	0	OR1L6	124552305	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.208000	0.65203	2.557000	0.86248	0.655000	0.94253	GCC		0.512	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				84	482	0	0	0	1	0	84	482				
DAXX	1616	broad.mit.edu	37	6	33288663	33288663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288663C>A	ENST00000374542.5	-	3	1093	c.889G>T	c.(889-891)Gct>Tct	p.A297S	DAXX_ENST00000266000.6_Missense_Mutation_p.A297S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.A222S|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	297	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.A297P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGTCGGGCAGCTGCCTTCTCT	0.597			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		1	Substitution - Missense(1)	p.A297P(1)	pancreas(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(889-891)Gct>Tct		death-domain associated protein							85.0	73.0	77.0					6																	33288663		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288663C>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.889G>T	6.37:g.33288663C>A	ENSP00000363668:p.Ala297Ser					DAXX_ENST00000414083.2_Missense_Mutation_p.A222S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.A297S	p.A297S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	1093	-			297					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.889G>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116827	0.37339	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	3.79	0.43588	.	0.109437	0.64402	D	0.000010	T	0.36166	0.0957	L	0.50919	1.6	0.33157	D	0.546452	P;D;D	0.58268	0.738;0.982;0.982	B;P;P	0.60117	0.441;0.869;0.869	T	0.24476	-1.0159	9	0.21540	T	0.41	-9.2936	5.725	0.18008	0.1955:0.7078:0.0:0.0968	.	309;297;297	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	S	297;297;222	.	ENSP00000266000:A297S	A	-	1	0	DAXX	33396641	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.756000	0.55205	1.186000	0.42985	0.643000	0.83706	GCT		0.597	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			103	394	1	0	3.19611e-63	1	4.03289e-63	103	394				
SPATA31D5P	347127	broad.mit.edu	37	9	84531925	84531925	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84531925G>A	ENST00000527857.1	+	0	1947					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GTGCAGGAAAGTGTGTGGGGT	0.448																																						ENST00000527857.1																			0																																																			0							g.chr9:84531925G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531925G>A								NR_026851.1						0	1947	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.448	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		30	116	0	0	0	1	0	30	116				
IL17C	27189	broad.mit.edu	37	16	88706252	88706252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706252G>T	ENST00000244241.4	+	3	415	c.366G>T	c.(364-366)caG>caT	p.Q122H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	122					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTATCCACAGAAGCTGGCCT	0.667																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(364-366)caG>caT		interleukin 17C							22.0	29.0	27.0					16																	88706252		2095	4213	6308	SO:0001583	missense	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706252G>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.366G>T	16.37:g.88706252G>T	ENSP00000244241:p.Gln122His						p.Q122H	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	415	+			122					Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	c.366G>T	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995595	0.35226	.	.	ENSG00000124391	ENST00000244241	T	0.56611	0.45	4.66	0.998	0.19857	.	0.101773	0.42053	D	0.000763	T	0.56891	0.2016	M	0.61703	1.905	0.27750	N	0.944196	D	0.61697	0.99	P	0.55455	0.776	T	0.52419	-0.8578	10	0.56958	D	0.05	-18.9878	7.2541	0.26166	0.2758:0.159:0.5652:0.0	.	122	Q9P0M4	IL17C_HUMAN	H	122	ENSP00000244241:Q122H	ENSP00000244241:Q122H	Q	+	3	2	IL17C	87233753	0.362000	0.24980	0.648000	0.29521	0.009000	0.06853	0.326000	0.19646	0.081000	0.16988	-1.134000	0.01955	CAG		0.667	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		4	64	1	0	0.00909568	1	0.00914726	4	64				
TRDMT1	1787	broad.mit.edu	37	10	17210891	17210891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17210891C>A	ENST00000377799.3	-	3	247	c.200G>T	c.(199-201)aGa>aTa	p.R67I	TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	67	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	AAAAGATAATCTGTCAAACTC	0.378																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(199-201)aGa>aTa		tRNA aspartic acid methyltransferase 1							72.0	71.0	72.0					10																	17210891		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17210891C>A	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.200G>T	10.37:g.17210891C>A	ENSP00000367030:p.Arg67Ile					TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I	p.R67I	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			3	247	-			67					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.200G>T	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.439433|2.439433	0.43326|0.43326	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000313936|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	.|D;D;D;D	.|0.84516	.|-1.86;-1.86;-1.86;-1.86	5.95|5.95	1.06|1.06	0.20224|0.20224	.|.	.|0.530170	.|0.22507	.|N	.|0.059146	T|T	0.76751|0.76751	0.4031|0.4031	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	0.999994|0.999994	.|P;B;B	.|0.43519	.|0.809;0.23;0.051	.|B;B;B	.|0.41332	.|0.354;0.06;0.033	T|T	0.68337|0.68337	-0.5435|-0.5435	5|10	.|0.62326	.|D	.|0.03	-8.0424|-8.0424	6.9518|6.9518	0.24550|0.24550	0.0:0.465:0.1221:0.4129|0.0:0.465:0.1221:0.4129	.|.	.|67;67;67	.|O14717-3;O14717-2;O14717	.|.;.;TRDMT_HUMAN	H|I	46|67;67;67;49	.|ENSP00000367030:R67I;ENSP00000409354:R67I;ENSP00000324328:R67I;ENSP00000431476:R49I	.|ENSP00000324328:R67I	Q|R	-|-	3|2	2|0	TRDMT1|TRDMT1	17250897|17250897	0.865000|0.865000	0.29922|0.29922	0.979000|0.979000	0.43373|0.43373	0.948000|0.948000	0.59901|0.59901	0.359000|0.359000	0.20233|0.20233	0.281000|0.281000	0.22233|0.22233	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.378	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		17	99	1	0	8.28177e-16	1	9.06825e-16	17	99				
TNFRSF11A	8792	broad.mit.edu	37	18	60025520	60025520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60025520C>T	ENST00000586569.1	+	5	505	c.467C>T	c.(466-468)gCa>gTa	p.A156V	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	156					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTTGCCTTGCAGGCTACTTC	0.423																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(466-468)gCa>gTa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							150.0	139.0	142.0					18																	60025520		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025520C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.467C>T	18.37:g.60025520C>T	ENSP00000465500:p.Ala156Val					TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	p.A156V	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			5	505	+		Colorectal(73;0.188)	156					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.467C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	3.359	-0.130838	0.06753	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.61510	0.1	5.84	-11.6	0.00059	TNFR/CD27/30/40/95 cysteine-rich region (1);	3.105210	0.00797	N	0.001399	T	0.35451	0.0932	N	0.13371	0.34	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.08055	0.002;0.003	T	0.14200	-1.0481	9	.	.	.	6.3304	13.7445	0.62868	0.0772:0.6654:0.0783:0.1791	.	178;156	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	V	178;156	ENSP00000269485:A156V	.	A	+	2	0	TNFRSF11A	58176500	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.609000	0.05635	-2.601000	0.00451	-0.484000	0.04775	GCA		0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			96	467	0	0	0	1	0	96	467				
CACHD1	57685	broad.mit.edu	37	1	65129424	65129424	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65129424T>G	ENST00000371073.2	+	14	1998	c.1998T>G	c.(1996-1998)taT>taG	p.Y666*	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Y615*			Q5VU97	CAHD1_HUMAN	cache domain containing 1	666					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCCCCTATGAGCACCTCA	0.537																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1996-1998)taT>taG		cache domain containing 1							174.0	171.0	172.0					1																	65129424		2203	4300	6503	SO:0001587	stop_gained	57685				calcium ion transport	integral to membrane		g.chr1:65129424T>G	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1998T>G	1.37:g.65129424T>G	ENSP00000360113:p.Tyr666*					CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Y615*|CACHD1_ENST00000495994.1_3'UTR	p.Y666*			Q5VU97	CAHD1_HUMAN			14	1998	+			666					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Nonsense_Mutation	SNP	ENST00000371073.2	37	c.1998T>G		.	.	.	.	.	.	.	.	.	.	T	39	7.571816	0.98365	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	5.92	-5.19	0.02832	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.2379	15.5787	0.76414	0.0:0.2889:0.0:0.7111	.	.	.	.	X	666;615	.	ENSP00000290039:Y615X	Y	+	3	2	CACHD1	64902012	0.175000	0.23083	0.855000	0.33649	0.990000	0.78478	-0.484000	0.06528	-0.793000	0.04475	-0.334000	0.08254	TAT		0.537	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		126	959	0	0	0	1	0	126	959				
CCDC184	387856	broad.mit.edu	37	12	48577906	48577906	+	Start_Codon_SNP	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48577906A>G	ENST00000316554.3	+	1	541	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		1						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTGCCACTCAATGGAGGACGG	0.721																																						ENST00000316554.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						c.(1-3)Atg>Gtg		chromosome 12 open reading frame 68							22.0	28.0	26.0					12																	48577906		2196	4298	6494	SO:0001582	initiator_codon_variant	387856					cytoplasm		g.chr12:48577906A>G																												ENST00000316554.3:c.1A>G	12.37:g.48577906A>G	ENSP00000320849:p.Met1Val						p.M1V	NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN			1	541	+			1					Q96MK5|Q96N39	Translation_Start_Site	SNP	ENST00000316554.3	37	c.1A>G	CCDS31785.1	.	.	.	.	.	.	.	.	.	.	A	7.941	0.742706	0.15642	.	.	ENSG00000177875	ENST00000316554	T	0.51071	0.72	5.17	4.03	0.46877	.	0.086594	0.50627	N	0.000107	T	0.34716	0.0907	.	.	.	0.24656	N	0.993495	B	0.24576	0.106	B	0.17722	0.019	T	0.32929	-0.9888	9	0.87932	D	0	-20.729	7.3555	0.26717	0.9029:0.0:0.0971:0.0	.	1	Q52MB2	CL068_HUMAN	V	1	ENSP00000320849:M1V	ENSP00000320849:M1V	M	+	1	0	C12orf68	46864173	0.998000	0.40836	0.943000	0.38184	0.997000	0.91878	2.706000	0.47135	0.991000	0.38814	0.491000	0.48974	ATG		0.721	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406514.1		Missense_Mutation	47	207	0	0	0	1	0	47	207				
MYLK4	340156	broad.mit.edu	37	6	2679691	2679691	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2679691C>T	ENST00000274643.7	-	9	1101				MYLK4_ENST00000268446.5_Missense_Mutation_p.R237Q	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4							extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GATCAAAAATCGTGAACACTG	0.393																																						ENST00000268446.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(709-711)cGa>cAa		myosin light chain kinase family, member 4							88.0	89.0	89.0					6																	2679691		2203	4300	6503	SO:0001627	intron_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2679691C>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.759-49G>A	6.37:g.2679691C>T						MYLK4_ENST00000274643.7_Intron	p.R237Q			Q86YV6	MYLK4_HUMAN			8	1006	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	238			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.710G>A	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441157	0.25900	.	.	ENSG00000145949	ENST00000268446	T	0.39056	1.1	4.48	1.43	0.22495	.	.	.	.	.	T	0.12944	0.0314	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25328	-1.0135	5	.	.	.	.	5.2575	0.15555	0.167:0.6338:0.0:0.1992	.	.	.	.	Q	237	ENSP00000268446:R237Q	.	R	-	2	0	MYLK4	2624690	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.055000	0.14229	0.506000	0.28125	-0.169000	0.13324	CGA		0.393	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		113	473	0	0	0	1	0	113	473				
ALPPL2	251	broad.mit.edu	37	2	233274417	233274417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274417G>A	ENST00000295453.3	+	11	1486	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	478					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CCTTCATAGCGCACGTCATGG	0.751																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1432-1434)gcG>gcA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						15.0	18.0	17.0					2																	233274417		2184	4280	6464	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274417G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1434G>A	2.37:g.233274417G>A							p.A478A	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1486	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	478					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1434G>A	CCDS2491.1																																																																																				0.751	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		44	134	0	0	0	1	0	44	134				
SCARF1	8578	broad.mit.edu	37	17	1538795	1538795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1538795G>A	ENST00000263071.4	-	11	1799	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	584	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCTTGGCCCGAGCTAGGCTG	0.672																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1750-1752)Cgg>Tgg		scavenger receptor class F, member 1							59.0	61.0	60.0					17																	1538795		2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538795G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1750C>T	17.37:g.1538795G>A	ENSP00000263071:p.Arg584Trp					SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W|SCARF1_ENST00000571272.1_3'UTR	p.R584W	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1799	-			584			Pro/Ser-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1750C>T	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888416	0.72524	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.35789	1.29;1.29	5.21	0.552	0.17230	.	0.000000	0.38897	N	0.001532	T	0.54303	0.1850	L	0.57536	1.79	0.27762	N	0.943808	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.974	T	0.58457	-0.7633	10	0.87932	D	0	-23.6421	16.2366	0.82380	0.0:0.0:0.2687:0.7313	.	498;584	Q14162-2;Q14162	.;SREC_HUMAN	W	584;498	ENSP00000263071:R584W;ENSP00000323964:R498W	ENSP00000263071:R584W	R	-	1	2	SCARF1	1485545	1.000000	0.71417	0.259000	0.24435	0.979000	0.70002	2.324000	0.43831	-0.099000	0.12263	0.555000	0.69702	CGG		0.672	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		57	611	0	0	0	1	0	57	611				
MAPK15	225689	broad.mit.edu	37	8	144800977	144800977	+	Missense_Mutation	SNP	G	G	A	rs375622398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144800977G>A	ENST00000338033.4	+	5	438	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S|MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGAAGGGCGGCCTGCTGCA	0.682																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(319-321)Ggc>Agc		mitogen-activated protein kinase 15			SER/GLY	1,4403		0,1,2201	22.0	24.0	23.0		319	-6.0	0.0	8		23	0,8600		0,0,4300	no	missense	MAPK15	NM_139021.2	56	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	107/545	144800977	1,13003	2202	4300	6502	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144800977G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.319G>A	8.37:g.144800977G>A	ENSP00000337691:p.Gly107Ser					MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S	p.G107S	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	438	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		107			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.319G>A	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	11.29	1.593734	0.28445	2.27E-4	0.0	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.47177	0.85;0.85;0.85	4.26	-6.0	0.02206	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.198720	0.06357	N	0.710919	T	0.29524	0.0736	L	0.37561	1.115	0.09310	N	1	B	0.22851	0.076	B	0.17722	0.019	T	0.21075	-1.0256	10	0.35671	T	0.21	.	3.4777	0.07590	0.4302:0.0:0.3001:0.2696	.	107	Q8TD08	MK15_HUMAN	S	107;124;107	ENSP00000337691:G107S;ENSP00000378539:G124S;ENSP00000378540:G107S	ENSP00000337691:G107S	G	+	1	0	MAPK15	144872965	0.002000	0.14202	0.001000	0.08648	0.248000	0.25809	1.409000	0.34680	-0.901000	0.03891	0.431000	0.28591	GGC		0.682	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		28	114	0	0	0	1	0	28	114				
ZMYM1	79830	broad.mit.edu	37	1	35578670	35578670	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35578670T>C	ENST00000373330.1	+	11	1413	c.1239T>C	c.(1237-1239)agT>agC	p.S413S	ZMYM1_ENST00000359858.4_Silent_p.S413S|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	413	Ser-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGTATTCAGTCAGCATGCAA	0.388																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1237-1239)agT>agC		zinc finger, MYM-type 1							66.0	63.0	64.0					1																	35578670		1907	4135	6042	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35578670T>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1239T>C	1.37:g.35578670T>C						ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.S413S	p.S413S			Q5SVZ6	ZMYM1_HUMAN			11	1413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	413			Ser-rich.		D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.1239T>C	CCDS41302.1																																																																																				0.388	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		21	169	0	0	0	1	0	21	169				
ZBTB20	26137	broad.mit.edu	37	3	114070553	114070553	+	Silent	SNP	G	G	A	rs554447265		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070553G>A	ENST00000474710.1	-	4	550	c.372C>T	c.(370-372)gcC>gcT	p.A124A	ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20_ENST00000393785.2_Silent_p.A51A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.A51A|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.A51A|ZBTB20_ENST00000462705.1_Silent_p.A51A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.A51A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	124	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGGGGCTGCCGGCTGCCAGCA	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0				NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(151-153)gcC>gcT		zinc finger and BTB domain containing 20							44.0	42.0	42.0					3																	114070553		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070553G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.372C>T	3.37:g.114070553G>A						ZBTB20_ENST00000357258.3_Silent_p.A51A|ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20_ENST00000474710.1_Silent_p.A124A|ZBTB20_ENST00000393785.2_Silent_p.A51A|ZBTB20_ENST00000481632.1_Silent_p.A51A|ZBTB20_ENST00000464560.1_Silent_p.A51A	p.A51A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	974	-			124					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.153C>T	CCDS54626.1																																																																																				0.607	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		45	220	0	0	0	1	0	45	220				
IFT80	57560	broad.mit.edu	37	3	160073860	160073860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073860C>T	ENST00000326448.7	-	8	1150	c.718G>A	c.(718-720)Gat>Aat	p.D240N	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N|IFT80_ENST00000496589.1_Missense_Mutation_p.D103N|IFT80_ENST00000483465.1_Missense_Mutation_p.D103N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	240					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATTCTCCATCTGGAGCCCAG	0.413																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(718-720)Gat>Aat		intraflagellar transport 80 homolog (Chlamydomonas)							111.0	102.0	105.0					3																	160073860		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160073860C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.718G>A	3.37:g.160073860C>T	ENSP00000312778:p.Asp240Asn					IFT80_ENST00000496589.1_Missense_Mutation_p.D103N|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N|IFT80_ENST00000483465.1_Missense_Mutation_p.D103N	p.D240N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		8	1150	-			240					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.718G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517515	0.64634	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.62498	1.3;0.02;0.02;1.37	5.37	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.56097	U	0.000030	T	0.64907	0.2641	L	0.31476	0.935	0.80722	D	1	D	0.56968	0.978	P	0.60473	0.875	T	0.63301	-0.6668	10	0.34782	T	0.22	-12.0688	13.5991	0.62010	0.0:0.9256:0.0:0.0744	.	240	Q9P2H3	IFT80_HUMAN	N	240;103;103;103	ENSP00000312778:D240N;ENSP00000418196:D103N;ENSP00000420646:D103N;ENSP00000418602:D103N	ENSP00000312778:D240N	D	-	1	0	IFT80	161556554	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.422000	0.80217	1.268000	0.44264	0.655000	0.94253	GAT		0.413	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		22	418	0	0	0	1	0	22	418				
RGAG4	340526	broad.mit.edu	37	X	71350291	71350291	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	RGAG4_ENST00000609883.1_Missense_Mutation_p.R367M|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1099-1101)aGg>aTg		retrotransposon gag domain containing 4							44.0	37.0	39.0					X																	71350291		2008	4162	6170	SO:0001583	missense	340526							g.chrX:71350291C>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1100G>T	X.37:g.71350291C>A	ENSP00000441366:p.Arg367Met					RGAG4_ENST00000479991.1_Missense_Mutation_p.R367M|NHSL2_ENST00000540800.1_Intron	p.R367M			Q5HYW3	RGAG4_HUMAN			1	1467	-	Renal(35;0.156)		367					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1100G>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261320	0.39995	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.15952	2.38;2.38	4.13	1.3	0.21679	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	B	0.44044	0.439	T	0.20806	-1.0264	8	.	.	.	-0.8425	6.8825	0.24181	0.0:0.5677:0.3302:0.1021	.	367	Q5HYW3	RGAG4_HUMAN	M	367	ENSP00000441366:R367M;ENSP00000418667:R367M	.	R	-	2	0	RGAG4	71267016	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	0.305000	0.19254	0.133000	0.18654	0.600000	0.82982	AGG		0.488	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		32	85	1	0	5.45727e-16	1	5.98072e-16	32	85				
RPH3A	22895	broad.mit.edu	37	12	113328755	113328755	+	Silent	SNP	C	C	T	rs199509912	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113328755C>T	ENST00000389385.4	+	19	2219	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C|RPH3A_ENST00000548866.1_Silent_p.C525C|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.C574C|RPH3A_ENST00000447659.2_Silent_p.C525C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	574	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCATACGCTGCGTGCACCTGG	0.582													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21710	0.0		0.0	False		,,,				2504	0.0					ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1720-1722)tgC>tgT		rabphilin 3A homolog (mouse)							124.0	83.0	97.0					12																	113328755		2203	4300	6503	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113328755C>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1722C>T	12.37:g.113328755C>T						RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000447659.2_Silent_p.C525C|RPH3A_ENST00000420983.2_Silent_p.C574C|RPH3A_ENST00000548866.1_Silent_p.C525C|RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C	p.C574C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	19	2219	+			574			C2 2.		B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.1722C>T	CCDS44979.1																																																																																				0.582	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		47	121	0	0	0	1	0	47	121				
ITGA1	3672	broad.mit.edu	37	5	52218680	52218680	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52218680T>G	ENST00000282588.6	+	18	2824	c.2366T>G	c.(2365-2367)gTt>gGt	p.V789G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	789					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATGGGCCTGTTCTTGATGAT	0.338																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2365-2367)gTt>gGt		integrin, alpha 1							136.0	130.0	132.0					5																	52218680		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52218680T>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2366T>G	5.37:g.52218680T>G	ENSP00000282588:p.Val789Gly						p.V789G	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			18	2824	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	789					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.2366T>G	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439252	0.83885	.	.	ENSG00000213949	ENST00000282588	T	0.57273	0.41	5.9	5.9	0.94986	Integrin alpha-2 (1);	0.263224	0.37178	N	0.002211	T	0.70360	0.3215	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.73164	-0.4069	10	0.87932	D	0	.	16.3264	0.82983	0.0:0.0:0.0:1.0	.	789	P56199	ITA1_HUMAN	G	789	ENSP00000282588:V789G	ENSP00000282588:V789G	V	+	2	0	ITGA1	52254437	1.000000	0.71417	0.556000	0.28293	0.995000	0.86356	6.327000	0.72910	2.259000	0.74868	0.374000	0.22700	GTT		0.338	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		89	495	0	0	0	1	0	89	495				
HIBADH	11112	broad.mit.edu	37	7	27669044	27669044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27669044C>T	ENST00000265395.2	-	4	636	c.430G>A	c.(430-432)Gcc>Acc	p.A144T		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	144					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			ACTTCTTTGGCCAATTCTTTT	0.333																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(430-432)Gcc>Acc		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						147.0	146.0	146.0					7																	27669044		2203	4300	6503	SO:0001583	missense	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27669044C>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.430G>A	7.37:g.27669044C>T	ENSP00000265395:p.Ala144Thr						p.A144T	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		4	636	-			144					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.430G>A	CCDS5414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.728778|4.728778	0.89390|0.89390	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000265395|ENST00000425715	T|.	0.38401|.	1.14|.	5.73|5.73	5.73|5.73	0.89815|0.89815	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.103605|.	0.64402|.	D|.	0.000003|.	D|.	0.84365|.	0.5456|.	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	B;B|.	0.27882|.	0.192;0.192|.	B;B|.	0.37550|.	0.253;0.253|.	D|.	0.85455|.	0.1163|.	10|.	0.59425|.	D|.	0.04|.	-17.6332|-17.6332	19.918|19.918	0.97070|0.97070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144;144|.	Q546Z2;P31937|.	.;3HIDH_HUMAN|.	T|X	144|86	ENSP00000265395:A144T|.	ENSP00000265395:A144T|.	A|W	-|-	1|3	0|0	HIBADH|HIBADH	27635569|27635569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.490000|4.490000	0.60319|0.60319	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	GCC|TGG		0.333	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		71	426	0	0	0	1	0	71	426				
ARSI	340075	broad.mit.edu	37	5	149677669	149677669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149677669G>T	ENST00000328668.7	-	2	1397	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	273					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCGCACAGCCTCATCCAT	0.597																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(817-819)gCt>gAt		arylsulfatase family, member I							43.0	37.0	39.0					5																	149677669		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677669G>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.818C>A	5.37:g.149677669G>T	ENSP00000333395:p.Ala273Asp						p.A273D	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1397	-			273					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.818C>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432615	0.83776	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96913	-4.17;-4.17	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.78049	2.395	0.80722	D	1	P	0.50943	0.94	P	0.58391	0.838	D	0.98335	1.0535	10	0.72032	D	0.01	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	273	Q5FYB1	ARSI_HUMAN	D	273;130	ENSP00000333395:A273D;ENSP00000426879:A130D	ENSP00000333395:A273D	A	-	2	0	ARSI	149657862	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.501000	0.66950	2.460000	0.83146	0.561000	0.74099	GCT		0.597	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		42	175	1	0	2.26627e-22	1	2.56399e-22	42	175				
MYO5B	4645	broad.mit.edu	37	18	47373547	47373547	+	Silent	SNP	G	G	A	rs576835999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47373547G>A	ENST00000285039.7	-	33	4727	c.4428C>T	c.(4426-4428)gaC>gaT	p.D1476D	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.D591D|MYO5B_ENST00000592688.1_Silent_p.D46D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1476					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGAGGGCCTCGTCCTCTTTGT	0.612																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4426-4428)gaC>gaT		myosin VB							83.0	92.0	89.0					18																	47373547		2122	4219	6341	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47373547G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4428C>T	18.37:g.47373547G>A						MYO5B_ENST00000324581.6_Silent_p.D591D|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.D46D	p.D1476D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	33	4727	-			1476					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4428C>T	CCDS42436.1																																																																																				0.612	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			33	346	0	0	0	1	0	33	346				
SCN1A	6323	broad.mit.edu	37	2	166848892	166848892	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848892G>T	ENST00000303395.4	-	26	4892	c.4893C>A	c.(4891-4893)tcC>tcA	p.S1631S	SCN1A_ENST00000423058.2_Silent_p.S1631S|SCN1A_ENST00000375405.3_Silent_p.S1620S|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S1603S|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1631					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAGGGTAGGGGACACGAAAT	0.433																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4891-4893)tcC>tcA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100.0	99.0	100.0					2																	166848892		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848892G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4893C>A	2.37:g.166848892G>T						SCN1A_ENST00000303395.4_Silent_p.S1631S|SCN1A_ENST00000375405.3_Silent_p.S1620S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S1603S	p.S1631S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	4910	-			1631					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.4893C>A	CCDS54413.1																																																																																				0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		76	443	1	0	9.59377e-39	1	1.15749e-38	76	443				
IGHV3-53	28420	broad.mit.edu	37	14	107049117	107049117	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107049117C>T	ENST00000390627.2	-	0	224									immunoglobulin heavy variable 3-53																		AGCCAAAACTCCATGGTGAGT	0.498																																						ENST00000390627.2																			0																				194.0	206.0	202.0					14																	107049117		1203	2508	3711			0							g.chr14:107049117C>T	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107049117C>T														0	224	-									RNA	SNP	ENST00000390627.2	37																																																																																						0.498	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		199	821	0	0	0	1	0	199	821				
TRBV6-4	28603	broad.mit.edu	37	7	142250985	142250985	+	RNA	SNP	G	G	T	rs375987239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142250985G>T	ENST00000390360.3	-	0	82									T cell receptor beta variable 6-4																		GGTGATCCCAGCAGTCACTGG	0.527																																						ENST00000390360.3																			0																				114.0	110.0	112.0					7																	142250985		2010	4195	6205			0							g.chr7:142250985G>T	X61653		7q34	2012-02-07			ENSG00000211713	ENSG00000211713		"""T cell receptors / TRB locus"""	12229	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV64, TCRBV13S5, TCRBV6S4			OTTHUMG00000158533		7.37:g.142250985G>T														0	82	-									RNA	SNP	ENST00000390360.3	37																																																																																						0.527	TRBV6-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351239.2	NG_001333		72	280	1	0	6.06247e-24	1	6.9123e-24	72	280				
RP11-423O2.5	0	broad.mit.edu	37	1	142803620	142803620	+	lincRNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:142803620C>A	ENST00000423385.1	-	0	1345																											ATGGAAGAaactaatatctgt	0.303																																						ENST00000423385.1																			0																																																			0							g.chr1:142803620C>A																													1.37:g.142803620C>A														0	1345	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.303	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			32	289	1	0	2.61193e-14	1	2.83483e-14	32	289				
PPP1R3A	5506	broad.mit.edu	37	7	113522121	113522121	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113522121T>C	ENST00000284601.3	-	3	1007	c.939A>G	c.(937-939)gaA>gaG	p.E313E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	313					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCATTATGTTCATCATGTT	0.383																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(937-939)gaA>gaG		protein phosphatase 1, regulatory subunit 3A							248.0	199.0	215.0					7																	113522121		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113522121T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.939A>G	7.37:g.113522121T>C							p.E313E	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			3	1007	-			313					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.939A>G	CCDS5759.1																																																																																				0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		31	446	0	0	0	1	0	31	446				
ZBTB20	26137	broad.mit.edu	37	3	114070695	114070695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070695C>T	ENST00000474710.1	-	4	408	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	77						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R4H(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGTGAATGCGCTCGGTCAT	0.537																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Substitution - Missense(1)	p.R4H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(10-12)cGc>cAc		zinc finger and BTB domain containing 20							75.0	76.0	76.0					3																	114070695		2202	4298	6500	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070695C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.230G>A	3.37:g.114070695C>T	ENSP00000419153:p.Arg77His					ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R77H|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H	p.R4H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	832	-			77					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.11G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893482	0.91889	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.46819	2.67;2.67;2.67;2.67;2.78;2.67;2.67;0.86	6.1	6.1	0.99115	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.65249	-0.6214	10	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	77	Q9HC78	ZBT20_HUMAN	H	4;4;4;4;77;4;4;4	ENSP00000420324:R4H;ENSP00000377375:R4H;ENSP00000418092:R4H;ENSP00000419902:R4H;ENSP00000419153:R77H;ENSP00000349803:R4H;ENSP00000417307:R4H;ENSP00000420684:R4H	ENSP00000349803:R4H	R	-	2	0	ZBTB20	115553385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.902000	0.99343	0.650000	0.86243	CGC		0.537	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		38	314	0	0	0	1	0	38	314				
COL19A1	1310	broad.mit.edu	37	6	70852662	70852662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70852662C>T	ENST00000322773.4	+	23	1678	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	526	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATTTTAGGGTCAGCAAGGATC	0.368																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1576-1578)Cag>Tag		collagen, type XIX, alpha 1							91.0	95.0	94.0					6																	70852662		2203	4300	6503	SO:0001587	stop_gained	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70852662C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1576C>T	6.37:g.70852662C>T	ENSP00000316030:p.Gln526*					COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	p.Q526*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			23	1678	+			526			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	37	c.1576C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928743	0.92389	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.27	5.27	0.74061	.	0.157235	0.42053	D	0.000772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.4175	0.83746	0.0:1.0:0.0:0.0	.	.	.	.	X	526;148	.	ENSP00000316030:Q526X	Q	+	1	0	COL19A1	70909383	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	2.243000	0.43115	2.613000	0.88420	0.585000	0.79938	CAG		0.368	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			48	252	0	0	0	1	0	48	252				
COBL	23242	broad.mit.edu	37	7	51095503	51095503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51095503G>A	ENST00000265136.7	-	10	3455	c.3290C>T	c.(3289-3291)cCt>cTt	p.P1097L	COBL_ENST00000395542.2_Missense_Mutation_p.P1179L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1097					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGGACAACAGGTTTGAATTT	0.498																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3535-3537)cCt>cTt		cordon-bleu WH2 repeat protein							179.0	160.0	167.0					7																	51095503		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095503G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3290C>T	7.37:g.51095503G>A	ENSP00000265136:p.Pro1097Leu					COBL_ENST00000265136.7_Missense_Mutation_p.P1097L	p.P1179L			O75128	COBL_HUMAN			12	3720	-	Glioma(55;0.08)		1097					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3536C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808808	0.70797	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.62105	0.08;0.26;0.15;0.05	5.27	5.27	0.74061	.	0.000000	0.41823	D	0.000809	T	0.70237	0.3201	L	0.36672	1.1	0.49051	D	0.999742	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.995;0.999;0.999;1.0	T	0.72903	-0.4151	10	0.87932	D	0	.	12.9135	0.58192	0.0:0.0:0.8378:0.1622	.	1097;1154;1097;1179;639	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	L	1097;989;982;1179	ENSP00000265136:P1097L;ENSP00000401204:P989L;ENSP00000413498:P982L;ENSP00000378912:P1179L	ENSP00000265136:P1097L	P	-	2	0	COBL	51062997	1.000000	0.71417	0.088000	0.20740	0.969000	0.65631	5.495000	0.66912	2.440000	0.82611	0.563000	0.77884	CCT		0.498	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		123	538	0	0	0	1	0	123	538				
HIPK2	28996	broad.mit.edu	37	7	139416452	139416452	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139416452T>G	ENST00000406875.3	-	2	476	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	128	Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGTCCACATTTTTGGTAGGTA	0.542																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(382-384)Aaa>Caa		homeodomain interacting protein kinase 2							102.0	84.0	90.0					7																	139416452		1568	3582	5150	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416452T>G	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.382A>C	7.37:g.139416452T>G	ENSP00000385571:p.Lys128Gln					HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q|HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q	p.K128Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			2	476	-	Melanoma(164;0.205)		128			Transcriptional corepression (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.382A>C		.	.	.	.	.	.	.	.	.	.	T	20.3	3.959497	0.74016	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.51817	0.69;0.72;0.7	5.28	5.28	0.74379	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.44254	D	0.997109	P;P	0.39665	0.682;0.59	B;B	0.33690	0.115;0.168	T	0.27839	-1.0062	8	0.39692	T	0.17	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	128;128	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	128	ENSP00000385571:K128Q;ENSP00000413724:K128Q;ENSP00000343108:K128Q	ENSP00000343108:K128Q	K	-	1	0	HIPK2	139062938	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.346000	0.65992	1.987000	0.57996	0.460000	0.39030	AAA		0.542	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		23	164	0	0	0	1	0	23	164				
ZAP70	7535	broad.mit.edu	37	2	98351789	98351789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98351789G>A	ENST00000264972.5	+	10	1374	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GATGCGCGAGGCGCAGATCAT	0.652																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1159-1161)Gcg>Acg		zeta-chain (TCR) associated protein kinase 70kDa							158.0	130.0	140.0					2																	98351789		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351789G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1159G>A	2.37:g.98351789G>A	ENSP00000264972:p.Ala387Thr					ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T|ZAP70_ENST00000463643.1_3'UTR	p.A387T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			10	1374	+			387			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1159G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541711	0.85917	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.63913	-0.07;-0.07;-0.07	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000136	T	0.74512	0.3726	M	0.70787	2.145	0.80722	D	1	D;D	0.63046	0.992;0.965	P;P	0.55545	0.741;0.778	T	0.77035	-0.2737	10	0.87932	D	0	.	17.5952	0.88010	0.0:0.0:1.0:0.0	.	261;387	P43403-3;P43403	.;ZAP70_HUMAN	T	387;261;80	ENSP00000264972:A387T;ENSP00000411141:A261T;ENSP00000400475:A80T	ENSP00000264972:A387T	A	+	1	0	ZAP70	97718221	1.000000	0.71417	0.989000	0.46669	0.199000	0.23934	9.823000	0.99369	2.844000	0.97970	0.643000	0.83706	GCG		0.652	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			233	608	0	0	0	1	0	233	608				
TJP2	9414	broad.mit.edu	37	9	71863050	71863050	+	Silent	SNP	C	C	T	rs189082774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71863050C>T	ENST00000377245.4	+	19	2998	c.2790C>T	c.(2788-2790)ggC>ggT	p.G930G	TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000348208.4_Silent_p.G930G|TJP2_ENST00000539225.1_Silent_p.G961G|TJP2_ENST00000453658.2_Silent_p.G907G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	930					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.G930G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTGAAGGAGGCGCCTACACTG	0.622																																						ENST00000377245.4																			1	Substitution - coding silent(1)	p.G930G(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(2788-2790)ggC>ggT		tight junction protein 2							56.0	52.0	53.0					9																	71863050		2203	4300	6503	SO:0001819	synonymous_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71863050C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2790C>T	9.37:g.71863050C>T						TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000539225.1_Silent_p.G961G|TJP2_ENST00000453658.2_Silent_p.G907G|TJP2_ENST00000348208.4_Silent_p.G930G	p.G930G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			19	2998	+			930					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.2790C>T	CCDS6627.1																																																																																				0.622	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		65	184	0	0	0	1	0	65	184				
PHF3	23469	broad.mit.edu	37	6	64394104	64394104	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64394104G>T	ENST00000262043.3	+	4	821	c.481G>T	c.(481-483)Gca>Tca	p.A161S	PHF3_ENST00000393387.1_Missense_Mutation_p.A161S|PHF3_ENST00000509330.1_Missense_Mutation_p.A161S			Q92576	PHF3_HUMAN	PHD finger protein 3	161					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAAAAAAGCATCTGGGAA	0.393																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(481-483)Gca>Tca		PHD finger protein 3							160.0	170.0	166.0					6																	64394104		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394104G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.481G>T	6.37:g.64394104G>T	ENSP00000262043:p.Ala161Ser					PHF3_ENST00000509330.1_Missense_Mutation_p.A161S|PHF3_ENST00000393387.1_Missense_Mutation_p.A161S	p.A161S			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	821	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		161					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.481G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643124	0.14451	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.41400	2.01;2.32;2.01;1.0;2.32	5.69	1.84	0.25277	.	0.563095	0.13620	N	0.374471	T	0.09774	0.0240	L	0.38531	1.155	0.20307	N	0.999911	B;B	0.31435	0.031;0.323	B;B	0.26770	0.008;0.073	T	0.35051	-0.9804	10	0.15066	T	0.55	-5.3199	6.3407	0.21321	0.0696:0.3046:0.4872:0.1386	.	161;161	Q92576;D6R9X2	PHF3_HUMAN;.	S	73;161;114;161;161;91	ENSP00000425227:A73S;ENSP00000262043:A161S;ENSP00000424078:A114S;ENSP00000422841:A161S;ENSP00000377048:A161S	ENSP00000262043:A161S	A	+	1	0	PHF3	64452063	0.992000	0.36948	0.835000	0.33067	0.985000	0.73830	0.067000	0.14510	-0.158000	0.11040	-0.810000	0.03169	GCA		0.393	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			151	666	1	0	1.893e-82	1	2.42261e-82	151	666				
TFF1	7031	broad.mit.edu	37	21	43783485	43783485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43783485C>T	ENST00000291527.2	-	2	215	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	39	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|digestion (GO:0007586)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of cell proliferation (GO:0008285)|response to estradiol (GO:0032355)|response to iron ion (GO:0010039)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)				cervix(1)|lung(1)	2						AACCACAATTCTGTCTTTCAC	0.507																																						ENST00000291527.2																			0				cervix(1)|lung(1)	2						c.(115-117)caG>caA		trefoil factor 1							78.0	69.0	72.0					21																	43783485		2203	4300	6503	SO:0001819	synonymous_variant	7031				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity	g.chr21:43783485C>T	BC032811	CCDS13685.1	21q22.3	2012-10-02	2007-01-29		ENSG00000160182	ENSG00000160182			11755	protein-coding gene	gene with protein product		113710	"""breast cancer, estrogen-inducible sequence expressed in"""	BCEI		9043862	Standard	NM_003225		Approved	D21S21, HPS2, pS2, pNR-2, HP1.A	uc002zax.1	P04155	OTTHUMG00000086799	ENST00000291527.2:c.117G>A	21.37:g.43783485C>T							p.Q39Q	NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN			2	215	-			39			P-type.			Silent	SNP	ENST00000291527.2	37	c.117G>A	CCDS13685.1																																																																																				0.507	TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195361.1	NM_003225		38	157	0	0	0	1	0	38	157				
PLBD2	196463	broad.mit.edu	37	12	113822071	113822071	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113822071G>A	ENST00000280800.3	+	7	1149		c.e7+1		PLBD2_ENST00000545182.2_Splice_Site	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2						lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACAGCGGCACGTGAGTGGGCT	0.622																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.e7+1		phospholipase B domain containing 2							53.0	48.0	50.0					12																	113822071		2203	4300	6503	SO:0001630	splice_region_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113822071G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1118+1G>A	12.37:g.113822071G>A						PLBD2_ENST00000545182.2_Splice_Site		NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			7	1149	+								F5H5E2	Splice_Site	SNP	ENST00000280800.3	37		CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529805	0.64860	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2668	0.90054	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLBD2	112306454	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.747000	0.85070	2.306000	0.77630	0.305000	0.20034	.		0.622	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542	Intron	8	333	0	0	0	1	0	8	333				
REM1	28954	broad.mit.edu	37	20	30064336	30064336	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30064336C>A	ENST00000201979.2	+	2	381	c.88C>A	c.(88-90)Cct>Act	p.P30T	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	30					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGGCCACCAGCCTGGCCGCCT	0.657																																						ENST00000201979.2																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(88-90)Cct>Act		RAS (RAD and GEM)-like GTP-binding 1							76.0	88.0	84.0					20																	30064336		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064336C>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.88C>A	20.37:g.30064336C>A	ENSP00000201979:p.Pro30Thr					DEFB124_ENST00000481595.1_Intron	p.P30T	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	381	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		30					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.88C>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027703	0.54790	.	.	ENSG00000088320	ENST00000201979	T	0.65916	-0.18	4.55	3.59	0.41128	.	0.410133	0.19588	N	0.110692	T	0.43366	0.1244	N	0.19112	0.55	0.26069	N	0.981242	B	0.33964	0.434	B	0.28011	0.085	T	0.47045	-0.9147	10	0.66056	D	0.02	.	10.6959	0.45899	0.0:0.9038:0.0:0.0962	.	30	O75628	REM1_HUMAN	T	30	ENSP00000201979:P30T	ENSP00000201979:P30T	P	+	1	0	REM1	29527997	0.890000	0.30428	1.000000	0.80357	0.852000	0.48524	2.140000	0.42159	2.350000	0.79820	0.655000	0.94253	CCT		0.657	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		50	547	1	0	1.51926e-22	1	1.72e-22	50	547				
TREML2	79865	broad.mit.edu	37	6	41166116	41166116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41166116G>T	ENST00000483722.1	-	2	292	c.107C>A	c.(106-108)aCt>aAt	p.T36N		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	36	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACAGACAGAGTCTCCCCTTC	0.502																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(106-108)aCt>aAt		triggering receptor expressed on myeloid cells-like 2							136.0	139.0	138.0					6																	41166116		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166116G>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.107C>A	6.37:g.41166116G>T	ENSP00000418767:p.Thr36Asn						p.T36N	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			2	292	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		36			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.107C>A	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307291	0.40795	.	.	ENSG00000112195	ENST00000483722	T	0.64085	-0.08	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000034	T	0.68869	0.3048	L	0.60455	1.87	0.37215	D	0.904973	D	0.76494	0.999	D	0.79108	0.992	T	0.73030	-0.4111	10	0.62326	D	0.03	-15.7229	13.6225	0.62144	0.0:0.0:1.0:0.0	.	36	Q5T2D2	TRML2_HUMAN	N	36	ENSP00000418767:T36N	ENSP00000418767:T36N	T	-	2	0	TREML2	41274094	0.999000	0.42202	0.984000	0.44739	0.036000	0.12997	4.280000	0.58959	2.344000	0.79699	0.563000	0.77884	ACT		0.502	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		190	832	1	0	1.05211e-58	1	1.32009e-58	190	832				
PRKCQ	5588	broad.mit.edu	37	10	6483904	6483904	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6483904G>A	ENST00000263125.5	-	16	1886	c.1787C>T	c.(1786-1788)cCc>cTc	p.P596L	PRKCQ_ENST00000397176.2_Intron|PRKCQ_ENST00000539722.1_Missense_Mutation_p.P471L	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TGGGTAAAAGGGATTGTCCAT	0.522																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1786-1788)cCc>cTc		protein kinase C, theta							107.0	92.0	97.0					10																	6483904		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6483904G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1787C>T	10.37:g.6483904G>A	ENSP00000263125:p.Pro596Leu					PRKCQ_ENST00000539722.1_Missense_Mutation_p.P471L|PRKCQ_ENST00000397176.2_Intron	p.P596L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			16	1886	-			596			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1787C>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151850|3.151850	0.57151|0.57151	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000539722|ENST00000397178	T;T|.	0.61980|.	0.06;0.06|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.098076|0.098076	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.60779|0.60779	0.2295|0.2295	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.98;0.998;1.0|.	P;D;D|.	0.97110|.	0.824;0.969;1.0|.	T|T	0.63216|0.63216	-0.6687|-0.6687	10|7	0.33141|0.66056	T|D	0.24|0.02	.|.	19.3241|19.3241	0.94254|0.94254	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	471;368;596|.	B4DF52;Q5JUN8;Q04759|.	.;.;KPCT_HUMAN|.	L|S	596;471|369	ENSP00000263125:P596L;ENSP00000441752:P471L|.	ENSP00000263125:P596L|ENSP00000380363:P369S	P|P	-|-	2|1	0|0	PRKCQ|PRKCQ	6523910|6523910	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.802000|0.802000	0.45316|0.45316	9.556000|9.556000	0.98127|0.98127	2.655000|2.655000	0.90218|0.90218	0.462000|0.462000	0.41574|0.41574	CCC|CCT		0.522	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		72	287	0	0	0	1	0	72	287				
NOS1	4842	broad.mit.edu	37	12	117768514	117768514	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117768514G>A	ENST00000338101.4	-	1	365	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	NOS1_ENST00000317775.6_Missense_Mutation_p.R121W|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGTGTCACCCGGATGGTCTTG	0.647																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(361-363)Cgg>Tgg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						34.0	38.0	37.0					12																	117768514		1903	4109	6012	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768514G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.361C>T	12.37:g.117768514G>A	ENSP00000337459:p.Arg121Trp					NOS1_ENST00000338101.4_Missense_Mutation_p.R121W|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W	p.R121W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1046	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		121			Interaction with NOSIP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.361C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932481	0.73442	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.07114	4.86;3.22;4.84	4.8	4.8	0.61643	PDZ/DHR/GLGF (1);	0.055578	0.64402	D	0.000001	T	0.24431	0.0592	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.55161	0.77	T	0.01869	-1.1257	10	0.87932	D	0	-26.7802	18.0621	0.89380	0.0:0.0:1.0:0.0	.	121	P29475	NOS1_HUMAN	W	121	ENSP00000320758:R121W;ENSP00000339862:R121W;ENSP00000337459:R121W	ENSP00000320758:R121W	R	-	1	2	NOS1	116252897	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.255000	0.43222	2.492000	0.84095	0.555000	0.69702	CGG		0.647	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			60	279	0	0	0	1	0	60	279				
C15orf41	84529	broad.mit.edu	37	15	36984338	36984338	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:36984338C>T	ENST00000566621.1	+	7	688	c.438C>T	c.(436-438)aaC>aaT	p.N146N	C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000562877.1_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000437989.2_Silent_p.N146N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	146										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GCATTGTGAACGACTGCTGTT	0.428																																						ENST00000566621.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(436-438)aaC>aaT		chromosome 15 open reading frame 41							95.0	87.0	90.0					15																	36984338		1861	4091	5952	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:36984338C>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.438C>T	15.37:g.36984338C>T						C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000437989.2_Silent_p.N146N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000562877.1_Silent_p.N48N	p.N146N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	7	688	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	146					B2RD87	Silent	SNP	ENST00000566621.1	37	c.438C>T	CCDS45215.1																																																																																				0.428	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		24	117	0	0	0	1	0	24	117				
ABCA9	10350	broad.mit.edu	37	17	66989177	66989177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66989177C>T	ENST00000340001.4	-	27	3815	c.3604G>A	c.(3604-3606)Gta>Ata	p.V1202I	ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I|ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1202					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCCAGGTATACAATTTCAGAT	0.343																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3604-3606)Gta>Ata		ATP-binding cassette, sub-family A (ABC1), member 9							105.0	104.0	104.0					17																	66989177		2202	4300	6502	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66989177C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3604G>A	17.37:g.66989177C>T	ENSP00000342216:p.Val1202Ile					ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I|ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I	p.V1202I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			27	3815	-	Breast(10;1.47e-12)		1202					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3604G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460288	0.12342	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.86366	-2.11;-2.11	4.44	-1.35	0.09114	.	0.876717	0.09469	N	0.797878	T	0.71937	0.3399	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15870	0.008;0.014	T	0.54721	-0.8251	10	0.13853	T	0.58	.	4.1642	0.10298	0.156:0.2935:0.4568:0.0936	.	1202;1202	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1202;1147;1202	ENSP00000342216:V1202I;ENSP00000359767:V1202I	ENSP00000342216:V1202I	V	-	1	0	ABCA9	64500772	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.769000	0.04710	-0.039000	0.13602	0.491000	0.48974	GTA		0.343	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		42	205	0	0	0	1	0	42	205				
EFNB2	1948	broad.mit.edu	37	13	107145730	107145730	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107145730G>T	ENST00000245323.4	-	5	809	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	220					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGGAACCGAGGATGTTGTTCC	0.532																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(658-660)atC>atA		ephrin-B2							129.0	99.0	109.0					13																	107145730		2203	4300	6503	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107145730G>T	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.660C>A	13.37:g.107145730G>T							p.I220I	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			5	809	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		220					Q5JV56	Silent	SNP	ENST00000245323.4	37	c.660C>A	CCDS9507.1																																																																																				0.532	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		60	349	1	0	8.81991e-31	1	1.03612e-30	60	349				
MSGN1	343930	broad.mit.edu	37	2	17998323	17998323	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998323G>T	ENST00000281047.3	+	1	561	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	180					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGAACTCACAGACCTCCTTAA	0.582																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(538-540)Gac>Tac		mesogenin 1							40.0	43.0	42.0					2																	17998323		2048	4191	6239	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998323G>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.538G>T	2.37:g.17998323G>T	ENSP00000281047:p.Asp180Tyr						p.D180Y	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	561	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		180						Missense_Mutation	SNP	ENST00000281047.3	37	c.538G>T	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958390	0.74016	.	.	ENSG00000151379	ENST00000281047	D	0.97710	-4.5	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (3);	0.147023	0.64402	D	0.000012	D	0.96694	0.8921	N	0.19112	0.55	0.53688	D	0.999972	D	0.76494	0.999	P	0.60789	0.879	D	0.96618	0.9457	10	0.66056	D	0.02	-9.2098	13.6054	0.62044	0.0706:0.0:0.9294:0.0	.	180	A6NI15	MSGN1_HUMAN	Y	180	ENSP00000281047:D180Y	ENSP00000281047:D180Y	D	+	1	0	MSGN1	17861804	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.344000	0.72991	2.837000	0.97791	0.655000	0.94253	GAC		0.582	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		47	275	1	0	2.0833e-19	1	2.32388e-19	47	275				
THBS1	7057	broad.mit.edu	37	15	39886550	39886550	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39886550C>T	ENST00000260356.5	+	21	3579	c.3414C>T	c.(3412-3414)atC>atT	p.I1138I	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1138	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAGGACCCATCTATGATAAAA	0.388																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3412-3414)atC>atT		thrombospondin 1	Becaplermin(DB00102)						138.0	132.0	134.0					15																	39886550		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39886550C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3414C>T	15.37:g.39886550C>T							p.I1138I	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	21	3579	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1138			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.3414C>T	CCDS32194.1																																																																																				0.388	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		69	349	0	0	0	1	0	69	349				
SERTAD4	56256	broad.mit.edu	37	1	210415325	210415325	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415325G>A	ENST00000367012.3	+	4	944	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	238	Ser-rich.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGCCTTTACCGAGTTGTTCCC	0.488																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(712-714)ccG>ccA		SERTA domain containing 4							64.0	60.0	61.0					1																	210415325		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415325G>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.714G>A	1.37:g.210415325G>A						SERTAD4_ENST00000490620.1_3'UTR	p.P238P	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	944	+			238			Ser-rich.		B2RD32	Silent	SNP	ENST00000367012.3	37	c.714G>A	CCDS1494.1																																																																																				0.488	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		67	289	0	0	0	1	0	67	289				
ANKMY1	51281	broad.mit.edu	37	2	241468599	241468599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241468599G>A	ENST00000272972.3	-	4	755	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000391987.1_Missense_Mutation_p.P181S|ANKMY1_ENST00000361678.4_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	181							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTGTCATGGGCAGGTGGTCA	0.468																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(541-543)Ccc>Tcc		ankyrin repeat and MYND domain containing 1							149.0	146.0	147.0					2																	241468599		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468599G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.541C>T	2.37:g.241468599G>A	ENSP00000272972:p.Pro181Ser					ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P181S	p.P181S			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	907	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	181					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.541C>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.064013|3.064013	0.55432|0.55432	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000443318|ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	.|T;T;T;T	.|0.39997	.|1.05;1.05;1.05;1.05	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.075541	.|0.52532	.|D	.|0.000066	T|T	0.65770|0.65770	0.2723|0.2723	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.988;0.988	T|T	0.69308|0.69308	-0.5179|-0.5179	5|10	.|0.62326	.|D	.|0.03	-6.3456|-6.3456	16.267|16.267	0.82593|0.82593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|181;181	.|Q4ZFV3;Q9P2S6	.|.;ANKY1_HUMAN	V|S	125|181;181;270;181;181	.|ENSP00000272972:P181S;ENSP00000375847:P181S;ENSP00000385887:P270S;ENSP00000407015:P181S	.|ENSP00000272972:P181S	A|P	-|-	2|1	0|0	ANKMY1|ANKMY1	241117272|241117272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.019000|0.019000	0.09904|0.09904	4.237000|4.237000	0.58681|0.58681	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.468	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		108	390	0	0	0	1	0	108	390				
ADAMTS3	9508	broad.mit.edu	37	4	73185142	73185142	+	Missense_Mutation	SNP	G	G	T	rs188897708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73185142G>T	ENST00000286657.4	-	9	1295	c.1259C>A	c.(1258-1260)gCt>gAt	p.A420D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	420	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTCCCATAGCAGTCTCATC	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1258-1260)gCt>gAt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							155.0	120.0	132.0					4																	73185142		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73185142G>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1259C>A	4.37:g.73185142G>T	ENSP00000286657:p.Ala420Asp						p.A420D	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1295	-			420			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1259C>A	CCDS3553.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.27	3.347610	0.61183	.	.	ENSG00000156140	ENST00000286657	D	0.86230	-2.09	5.61	5.61	0.85477	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	N	0.25094	0.71	0.54753	D	0.999983	D	0.60160	0.987	D	0.66497	0.944	D	0.83361	0.0002	10	0.12766	T	0.61	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	420	O15072	ATS3_HUMAN	D	420	ENSP00000286657:A420D	ENSP00000286657:A420D	A	-	2	0	ADAMTS3	73404006	0.928000	0.31464	0.209000	0.23619	0.893000	0.52053	3.955000	0.56715	2.802000	0.96397	0.655000	0.94253	GCT		0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			6	292	1	0	0.00116845	1	0.00118049	6	292				
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44680638C>T	ENST00000590089.1	+	7	1590	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F|ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(1222-1224)tCc>tTc		zinc finger protein 226							64.0	68.0	67.0					19																	44680638		2198	4299	6497	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680638C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1223C>T	19.37:g.44680638C>T	ENSP00000465121:p.Ser408Phe					ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F|ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F	p.S408F			Q9NYT6	ZN226_HUMAN			7	1590	+		Prostate(69;0.0352)|all_neural(266;0.202)	408					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.1223C>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122901	0.37436	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08008	3.14;3.14	3.92	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.564716	0.13501	N	0.383210	T	0.21509	0.0518	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02184	-1.1199	10	0.54805	T	0.06	.	12.2773	0.54744	0.1699:0.83:0.0:0.0	.	408	Q9NYT6	ZN226_HUMAN	F	408	ENSP00000336719:S408F;ENSP00000393265:S408F	ENSP00000336719:S408F	S	+	2	0	ZNF226	49372478	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.425000	0.02446	2.201000	0.70794	0.655000	0.94253	TCC		0.443	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			64	262	0	0	0	1	0	64	262				
CADPS	8618	broad.mit.edu	37	3	62631410	62631410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62631410C>T	ENST00000383710.4	-	6	1661	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	CADPS_ENST00000357948.3_Missense_Mutation_p.A438T|CADPS_ENST00000283269.9_Missense_Mutation_p.A438T|CADPS_ENST00000490353.2_Missense_Mutation_p.A438T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	438	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGTTTAGAAGCCTCGGCCTGA	0.453																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1312-1314)Gct>Act		Ca++-dependent secretion activator							213.0	201.0	205.0					3																	62631410		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62631410C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1312G>A	3.37:g.62631410C>T	ENSP00000373215:p.Ala438Thr					CADPS_ENST00000357948.3_Missense_Mutation_p.A438T|CADPS_ENST00000490353.2_Missense_Mutation_p.A438T|CADPS_ENST00000283269.9_Missense_Mutation_p.A438T	p.A438T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	6	1661	-		Lung SC(41;0.0452)	438			C2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1312G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910819	0.92178	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.06	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.78801	2.425	0.80722	D	1	D;D;P	0.67145	0.99;0.996;0.877	D;D;B	0.76071	0.94;0.987;0.398	D	0.85985	0.1485	10	0.66056	D	0.02	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	438;438;438	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	438	ENSP00000373215:A438T;ENSP00000350632:A438T;ENSP00000283269:A438T;ENSP00000418736:A438T	ENSP00000283269:A438T	A	-	1	0	CADPS	62606450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.710000	0.92621	0.655000	0.94253	GCT		0.453	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		125	573	0	0	0	1	0	125	573				
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7102-7104)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							40.0	40.0	40.0					7																	48317894		1803	4069	5872	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48317894C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7103C>T	7.37:g.48317894C>T	ENSP00000411096:p.Ala2368Val						p.A2368V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7127	+			2368					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7103C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	95	0	0	0	1	0	14	95				
CHRM3	1131	broad.mit.edu	37	1	240072469	240072469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240072469A>G	ENST00000255380.4	+	5	2497	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	573					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAGCAGCAGTACCAGCAGAGA	0.493																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1717-1719)tAc>tGc		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						48.0	48.0	48.0					1																	240072469		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072469A>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1718A>G	1.37:g.240072469A>G	ENSP00000255380:p.Tyr573Cys						p.Y573C	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2497	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	573					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1718A>G	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226261	0.58668	.	.	ENSG00000133019	ENST00000255380	T	0.37235	1.21	5.58	5.58	0.84498	.	0.202097	0.43919	D	0.000502	T	0.52661	0.1748	M	0.62723	1.935	0.58432	D	0.999991	D	0.69078	0.997	P	0.56865	0.808	T	0.56884	-0.7905	10	0.87932	D	0	-18.9527	15.7553	0.78018	1.0:0.0:0.0:0.0	.	573	P20309	ACM3_HUMAN	C	573	ENSP00000255380:Y573C	ENSP00000255380:Y573C	Y	+	2	0	CHRM3	238139092	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.127000	0.65507	0.533000	0.62120	TAC		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		50	279	0	0	0	1	0	50	279				
KCNG4	93107	broad.mit.edu	37	16	84270731	84270731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84270731C>T	ENST00000308251.4	-	2	429	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_ENST00000568181.1_Missense_Mutation_p.G121R	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	121					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACGATCACCCCGAAGGCGCTG	0.622																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(361-363)Ggg>Agg		potassium voltage-gated channel, subfamily G, member 4							50.0	53.0	52.0					16																	84270731		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270731C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.361G>A	16.37:g.84270731C>T	ENSP00000312129:p.Gly121Arg					KCNG4_ENST00000308251.4_Missense_Mutation_p.G121R	p.G121R			Q8TDN1	KCNG4_HUMAN			2	481	-			121					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.361G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159132	0.09236	.	.	ENSG00000168418	ENST00000308251	T	0.74842	-0.88	5.12	4.16	0.48862	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.158983	0.56097	D	0.000038	T	0.40067	0.1102	N	0.01277	-0.915	0.38865	D	0.956576	B;P	0.35011	0.008;0.48	B;B	0.26614	0.017;0.071	T	0.43147	-0.9409	10	0.25751	T	0.34	.	8.9585	0.35832	0.0:0.8319:0.0:0.1681	.	121;121	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	R	121	ENSP00000312129:G121R	ENSP00000312129:G121R	G	-	1	0	KCNG4	82828232	0.233000	0.23772	0.820000	0.32676	0.953000	0.61014	0.089000	0.15002	1.144000	0.42321	0.549000	0.68633	GGG		0.622	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		45	310	0	0	0	1	0	45	310				
SPTBN4	57731	broad.mit.edu	37	19	41040188	41040188	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41040188C>T	ENST00000352632.3	+	20	4383	c.4297C>T	c.(4297-4299)Ctg>Ttg	p.L1433L	SPTBN4_ENST00000598249.1_Silent_p.L1433L|SPTBN4_ENST00000338932.3_Silent_p.L1433L|SPTBN4_ENST00000595535.1_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L|SPTBN4_ENST00000392023.1_Silent_p.L109L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1433					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGAGCCAGCTGCAAGACGT	0.592																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(4297-4299)Ctg>Ttg		spectrin, beta, non-erythrocytic 4							46.0	41.0	43.0					19																	41040188		2203	4299	6502	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41040188C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4297C>T	19.37:g.41040188C>T						SPTBN4_ENST00000392023.1_Silent_p.L109L|SPTBN4_ENST00000598249.1_Silent_p.L1433L|SPTBN4_ENST00000595535.1_Silent_p.L1433L|SPTBN4_ENST00000338932.3_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L	p.L1433L			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		20	4383	+			1433					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.4297C>T	CCDS12559.1																																																																																				0.592	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	233	0	0	0	1	0	6	233				
EFR3A	23167	broad.mit.edu	37	8	132980547	132980547	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132980547G>T	ENST00000254624.5	+	9	1086	c.861G>T	c.(859-861)caG>caT	p.Q287H	EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H|EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	287						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCAGGCTCAGTATTCTCACC	0.413																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(859-861)caG>caT		EFR3 homolog A (S. cerevisiae)							93.0	81.0	85.0					8																	132980547		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132980547G>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.861G>T	8.37:g.132980547G>T	ENSP00000254624:p.Gln287His					EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H|EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H	p.Q287H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		9	1086	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		287					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.861G>T	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868286	0.72065	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.49720	0.77;0.77;0.77	5.66	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.81112	2.525	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.66814	-0.5828	10	0.87932	D	0	-1.3492	6.3182	0.21202	0.1352:0.0:0.6941:0.1707	.	287	Q14156	EFR3A_HUMAN	H	287;287;287;251	ENSP00000254624:Q287H;ENSP00000334769:Q287H;ENSP00000428086:Q251H	ENSP00000254624:Q287H	Q	+	3	2	EFR3A	133049729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.014000	0.40951	1.356000	0.45884	0.655000	0.94253	CAG		0.413	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		25	118	1	0	7.92952e-12	1	8.47903e-12	25	118				
SMG8	55181	broad.mit.edu	37	17	57288100	57288100	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57288100C>A	ENST00000543872.2	+	2	952	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	SMG8_ENST00000300917.5_Missense_Mutation_p.L230M|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.L230M|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	230					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATTCAGAGCCCTGGATGGGCT	0.488																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(688-690)Ctg>Atg		SMG8 nonsense mediated mRNA decay factor							75.0	72.0	73.0					17																	57288100		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288100C>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.688C>A	17.37:g.57288100C>A	ENSP00000438748:p.Leu230Met					SMG8_ENST00000578922.1_Missense_Mutation_p.L230M|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.L230M	p.L230M			Q8ND04	SMG8_HUMAN			2	952	+			230					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.688C>A	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153688	0.38021	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.54279	0.58;0.58	5.99	0.667	0.17907	.	0.063140	0.64402	D	0.000004	T	0.41696	0.1170	L	0.54323	1.7	0.43698	D	0.996156	P	0.48230	0.907	B	0.39503	0.301	T	0.21586	-1.0241	10	0.38643	T	0.18	-8.4489	9.2582	0.37597	0.0:0.5902:0.0:0.4098	.	230	Q8ND04	SMG8_HUMAN	M	230	ENSP00000300917:L230M;ENSP00000438748:L230M	ENSP00000300917:L230M	L	+	1	2	SMG8	54642882	0.976000	0.34144	0.980000	0.43619	0.942000	0.58702	1.335000	0.33839	-0.052000	0.13311	-0.150000	0.13652	CTG		0.488	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		20	302	1	0	1.50039e-11	1	1.60151e-11	20	302				
FLG2	388698	broad.mit.edu	37	1	152329582	152329582	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152329582G>T	ENST00000388718.5	-	3	752	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	227	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTTGATCCAGATCCAGATTC	0.433																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(679-681)tCt>tAt		filaggrin family member 2							212.0	217.0	215.0					1																	152329582		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329582G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.680C>A	1.37:g.152329582G>T	ENSP00000373370:p.Ser227Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S227Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	752	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		227			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.680C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.021952	0.02061	.	.	ENSG00000143520	ENST00000388718	T	0.00695	5.83	5.19	1.15	0.20763	.	.	.	.	.	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.40496	-0.9560	9	0.44086	T	0.13	-0.1609	3.5397	0.07807	0.0825:0.146:0.4701:0.3015	.	227	Q5D862	FILA2_HUMAN	Y	227	ENSP00000373370:S227Y	ENSP00000373370:S227Y	S	-	2	0	FLG2	150596206	0.048000	0.20356	0.008000	0.14137	0.129000	0.20672	0.751000	0.26348	0.054000	0.16065	-0.156000	0.13503	TCT		0.433	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		114	1184	1	0	1.20873e-29	1	1.41311e-29	114	1184				
NR4A2	4929	broad.mit.edu	37	2	157186485	157186485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157186485C>T	ENST00000339562.4	-	3	576	c.214G>A	c.(214-216)Gac>Aac	p.D72N	NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	72					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGCTTGACGTCGTAGCCTGTG	0.498																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(214-216)Gac>Aac		nuclear receptor subfamily 4, group A, member 2							164.0	144.0	151.0					2																	157186485		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186485C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.214G>A	2.37:g.157186485C>T	ENSP00000344479:p.Asp72Asn					NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N|NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N	p.D72N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	576	-			72					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.214G>A	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257573|4.257573	0.80246|0.80246	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709|ENST00000406048	D;D;D;D;D;D;D;D|.	0.93076|.	-2.93;-2.96;-2.93;-2.94;-3.16;-3.11;-1.58;-2.39|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.71702|0.71702	0.3371|0.3371	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65140|.	0.932|.	T|T	0.67248|0.67248	-0.5718|-0.5718	9|5	0.46703|.	T|.	0.11|.	.|.	19.4006|19.4006	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	72|.	P43354|.	NR4A2_HUMAN|.	N|Q	72;9;72;83;72;9;72;9|50	ENSP00000344479:D72N;ENSP00000389986:D9N;ENSP00000386747:D72N;ENSP00000444925:D83N;ENSP00000386993:D72N;ENSP00000410952:D9N;ENSP00000406808:D72N;ENSP00000388120:D9N|.	ENSP00000344479:D72N|.	D|R	-|-	1|2	0|0	NR4A2|NR4A2	156894731|156894731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAC|CGA		0.498	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			14	518	0	0	0	1	0	14	518				
TXNRD2	10587	broad.mit.edu	37	22	19882713	19882713	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19882713G>T	ENST00000334363.9	-	12	960	c.960C>A	c.(958-960)atC>atA	p.I320I	TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400518.1_Intron|TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000542719.1_Intron	NM_001282512.1	NP_001269441.1	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GACACGCAGAGATGCAAGGTG	0.597																																						ENST00000334363.9																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(958-960)atC>atA		thioredoxin reductase 2							68.0	62.0	64.0					22																	19882713		876	1991	2867	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19882713G>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000334363.9:c.960C>A	22.37:g.19882713G>T						TXNRD2_ENST00000400525.1_Intron|TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000400518.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Intron	p.I320I			Q9NNW7	TRXR2_HUMAN			12	960	-	Colorectal(54;0.0993)		0					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000334363.9	37	c.960C>A																																																																																					0.597	TXNRD2-201	KNOWN	basic	protein_coding	protein_coding		NM_006440		37	205	1	0	2.87052e-16	1	3.15093e-16	37	205				
BTAF1	9044	broad.mit.edu	37	10	93768637	93768637	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93768637C>T	ENST00000265990.6	+	27	4173	c.3865C>T	c.(3865-3867)Ctg>Ttg	p.L1289L	BTAF1_ENST00000544642.1_Silent_p.L117L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1289	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCATGGAATTCTGTGTGATGA	0.299																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3865-3867)Ctg>Ttg		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							80.0	83.0	82.0					10																	93768637		2202	4299	6501	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93768637C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3865C>T	10.37:g.93768637C>T						BTAF1_ENST00000544642.1_Silent_p.L117L	p.L1289L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			27	4173	+		Colorectal(252;0.0846)	1289			Helicase ATP-binding.		B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.3865C>T	CCDS7419.1																																																																																				0.299	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		56	228	0	0	0	1	0	56	228				
AGBL1	123624	broad.mit.edu	37	15	86800203	86800203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86800203G>A	ENST00000441037.2	+	7	812	c.717G>A	c.(715-717)ccG>ccA	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	239					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(715-717)ccG>ccA		ATP/GTP binding protein-like 1							74.0	75.0	75.0					15																	86800203		2039	4197	6236	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86800203G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.717G>A	15.37:g.86800203G>A						AGBL1_ENST00000421325.2_Silent_p.P239P	p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			7	812	+			239					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.717G>A	CCDS58398.1																																																																																				0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		25	131	0	0	0	1	0	25	131				
CACNA1E	777	broad.mit.edu	37	1	181701981	181701981	+	Missense_Mutation	SNP	G	G	A	rs377338098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701981G>A	ENST00000367573.2	+	20	2759	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R920H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R901H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R901H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R852H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R871H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R527H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	920					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCCAACGGCGCAGCCGGCAT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17191	0.0		0.0	False		,,,				2504	0.001					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2701-2703)cGc>cAc		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4252		0,0,2126	51.0	60.0	57.0		2702,2759,2759	4.1	1.0	1		57	1,8493		0,1,4246	no	missense,missense,missense	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	29,29,29	0,1,6372	AA,AG,GG		0.0118,0.0,0.0078	benign,benign,benign	901/2252,920/2314,920/2271	181701981	1,12745	2126	4247	6373	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701981G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2759G>A	1.37:g.181701981G>A	ENSP00000356545:p.Arg920His					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R527H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R852H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R901H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R920H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R920H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R871H	p.R901H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2867	+			920					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2702G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705010	0.68615	0.0	1.18E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96168	-3.88;-3.88;-3.88;-3.88;-3.93;-3.89;-3.88	4.13	4.13	0.48395	.	0.942416	0.08881	N	0.880021	D	0.90215	0.6941	N	0.08118	0	0.53005	D	0.999964	B;B;B	0.21688	0.059;0.035;0.059	B;B;B	0.13407	0.008;0.009;0.008	T	0.79567	-0.1750	10	0.36615	T	0.2	.	17.3004	0.87181	0.0:0.0:1.0:0.0	.	901;920;920	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	920;901;871;852;527;901;920	ENSP00000356542:R920H;ENSP00000434814:R901H;ENSP00000350183:R871H;ENSP00000351101:R852H;ENSP00000356539:R527H;ENSP00000353222:R901H;ENSP00000356545:R920H	ENSP00000350183:R871H	R	+	2	0	CACNA1E	179968604	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.941000	0.63540	2.592000	0.87571	0.555000	0.69702	CGC		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		95	531	0	0	0	1	0	95	531				
CAMSAP2	23271	broad.mit.edu	37	1	200817351	200817351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817351G>A	ENST00000236925.4	+	12	1536	c.1487G>A	c.(1486-1488)aGc>aAc	p.S496N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S469N|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.S485N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	496					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GAAGCAGAGAGCATTGAAGAA	0.338																																						ENST00000358823.2																			0											c.(1453-1455)aGc>aAc		calmodulin regulated spectrin-associated protein family, member 2							94.0	99.0	97.0					1																	200817351		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817351G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1487G>A	1.37:g.200817351G>A	ENSP00000236925:p.Ser496Asn					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.S496N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S469N	p.S485N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	1724	+			496					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.1454G>A		.	.	.	.	.	.	.	.	.	.	G	8.304	0.820587	0.16678	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14516	2.51;2.5;2.51	5.62	4.72	0.59763	.	0.524501	0.23091	N	0.052034	T	0.07999	0.0200	N	0.14661	0.345	0.27312	N	0.957287	B;B;B	0.23249	0.082;0.0;0.01	B;B;B	0.25140	0.058;0.0;0.022	T	0.32824	-0.9892	10	0.19147	T	0.46	-5.0869	9.3038	0.37863	0.2044:0.0:0.7956:0.0	.	469;496;485	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	485;469;496	ENSP00000351684:S485N;ENSP00000416800:S469N;ENSP00000236925:S496N	ENSP00000236925:S496N	S	+	2	0	CAMSAP1L1	199083974	1.000000	0.71417	0.916000	0.36221	0.943000	0.58893	3.003000	0.49505	1.375000	0.46248	0.655000	0.94253	AGC		0.338	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		18	424	0	0	0	1	0	18	424				
ABCG2	9429	broad.mit.edu	37	4	89016716	89016716	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89016716G>A	ENST00000237612.3	-	14	2238	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	ABCG2_ENST00000515655.1_Silent_p.G561G	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	565	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	AGCCATGACAGCCAAGATGCA	0.408																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1693-1695)Ctg>Ttg		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						148.0	118.0	128.0					4																	89016716		2203	4300	6503	SO:0001819	synonymous_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89016716G>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1693C>T	4.37:g.89016716G>A						ABCG2_ENST00000515655.1_Silent_p.G561G	p.L565L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	14	2238	-		Hepatocellular(203;0.114)	565			ABC transmembrane type-2.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	c.1693C>T	CCDS3628.1																																																																																				0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		37	227	0	0	0	1	0	37	227				
PTPRT	11122	broad.mit.edu	37	20	40827959	40827959	+	Silent	SNP	G	G	A	rs368232579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827959G>A	ENST00000373187.1	-	16	2411	c.2412C>T	c.(2410-2412)gcC>gcT	p.A804A	PTPRT_ENST00000373184.1_Silent_p.A794A|PTPRT_ENST00000373190.1_Silent_p.A804A|PTPRT_ENST00000373193.3_Silent_p.A807A|PTPRT_ENST00000356100.2_Silent_p.A813A|PTPRT_ENST00000373201.1_Silent_p.A794A|PTPRT_ENST00000373198.4_Silent_p.A823A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	804					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTTTGTCGGCAGAGGCCA	0.557																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2476-2478)gcC>gcT		protein tyrosine phosphatase, receptor type, T		G	,	0,4068		0,0,2034	173.0	183.0	180.0		2412,2469	-10.0	0.1	20		180	2,8386		0,2,4192	no	coding-synonymous,coding-synonymous	PTPRT	NM_007050.5,NM_133170.3	,	0,2,6226	AA,AG,GG		0.0238,0.0,0.0161	,	804/1442,823/1461	40827959	2,12454	2034	4194	6228	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827959G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2412C>T	20.37:g.40827959G>A						PTPRT_ENST00000373190.1_Silent_p.A804A|PTPRT_ENST00000356100.2_Silent_p.A813A|PTPRT_ENST00000373184.1_Silent_p.A794A|PTPRT_ENST00000373193.3_Silent_p.A807A|PTPRT_ENST00000373201.1_Silent_p.A794A|PTPRT_ENST00000373187.1_Silent_p.A804A	p.A826A	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2713	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	804					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2478C>T	CCDS42874.1																																																																																				0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			273	1083	0	0	0	1	0	273	1083				
DOK5	55816	broad.mit.edu	37	20	53208230	53208230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53208230A>C	ENST00000262593.5	+	5	835	c.485A>C	c.(484-486)gAg>gCg	p.E162A	DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	162	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATTACATATGAGTATATCTGT	0.458																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(484-486)gAg>gCg		docking protein 5							151.0	139.0	143.0					20																	53208230		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53208230A>C	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.485A>C	20.37:g.53208230A>C	ENSP00000262593:p.Glu162Ala					DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	p.E162A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		5	835	+			162			IRS-type PTB.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.485A>C	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697260	0.88830	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	T;T	0.75477	-0.94;-0.94	5.66	5.66	0.87406	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.76002	2.32	0.58432	D	0.999999	P;D	0.58970	0.906;0.984	P;D	0.72075	0.651;0.976	D	0.84323	0.0517	10	0.36615	T	0.2	-21.0585	14.721	0.69305	1.0:0.0:0.0:0.0	.	54;162	Q9P104-2;Q9P104	.;DOK5_HUMAN	A	162;54	ENSP00000262593:E162A;ENSP00000379270:E54A	ENSP00000262593:E162A	E	+	2	0	DOK5	52641637	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.270000	0.95690	2.155000	0.67459	0.528000	0.53228	GAG		0.458	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			74	317	0	0	0	1	0	74	317				
RP1L1	94137	broad.mit.edu	37	8	10464701	10464701	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10464701C>A	ENST00000382483.3	-	4	7130	c.6907G>T	c.(6907-6909)Gca>Tca	p.A2303S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2383	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAAGAGGATGCTCTGGAGGAG	0.607																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6907-6909)Gca>Tca		retinitis pigmentosa 1-like 1							187.0	190.0	189.0					8																	10464701		1950	4147	6097	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464701C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6907G>T	8.37:g.10464701C>A	ENSP00000371923:p.Ala2303Ser						p.A2303S	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	7130	-			2303					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6907G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707590	0.15239	.	.	ENSG00000183638	ENST00000382483	T	0.08370	3.1	4.01	-8.02	0.01118	.	3.056560	0.01886	N	0.038208	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18263	0.021	T	0.32161	-0.9917	10	0.25106	T	0.35	5.0784	2.6649	0.05041	0.1944:0.4196:0.2104:0.1756	.	2303	A6NKC6	.	S	2303	ENSP00000371923:A2303S	ENSP00000371923:A2303S	A	-	1	0	RP1L1	10502111	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.444000	0.02403	-2.037000	0.00920	-0.431000	0.05894	GCA		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			281	1228	1	0	6.90656e-69	1	8.76043e-69	281	1228				
FIG4	9896	broad.mit.edu	37	6	110107619	110107619	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110107619A>C	ENST00000230124.3	+	18	2187	c.2063A>C	c.(2062-2064)gAt>gCt	p.D688A	FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	688					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AGCTTTGATGATACCTTTTGC	0.348																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(2062-2064)gAt>gCt		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							178.0	171.0	174.0					6																	110107619		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110107619A>C	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2063A>C	6.37:g.110107619A>C	ENSP00000230124:p.Asp688Ala					FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	p.D688A	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	18	2187	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	688					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.2063A>C	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033096	0.54896	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.52295	1.92;0.67	5.5	4.35	0.52113	.	0.271299	0.40640	N	0.001053	T	0.22322	0.0538	L	0.34521	1.04	0.53005	D	0.999962	B;B	0.33103	0.137;0.397	B;B	0.32465	0.092;0.146	T	0.11767	-1.0574	10	0.72032	D	0.01	-27.3375	11.3806	0.49754	0.9291:0.0:0.0709:0.0	.	411;688	F5H8L9;Q92562	.;FIG4_HUMAN	A	411;688	ENSP00000399443:D411A;ENSP00000230124:D688A	ENSP00000230124:D688A	D	+	2	0	FIG4	110214312	1.000000	0.71417	0.885000	0.34714	0.938000	0.57974	6.801000	0.75170	1.040000	0.40099	0.528000	0.53228	GAT		0.348	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		89	477	0	0	0	1	0	89	477				
CACNA1E	777	broad.mit.edu	37	1	181701985	181701985	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701985C>T	ENST00000367573.2	+	20	2763	c.2763C>T	c.(2761-2763)agC>agT	p.S921S	CACNA1E_ENST00000367570.1_Silent_p.S921S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000526775.1_Silent_p.S902S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000357570.5_Silent_p.S872S|CACNA1E_ENST00000367567.4_Silent_p.S528S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	921					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACGGCGCAGCCGGCATCGCC	0.647																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2704-2706)agC>agT		calcium channel, voltage-dependent, R type, alpha 1E subunit							54.0	63.0	60.0					1																	181701985		2125	4249	6374	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701985C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2763C>T	1.37:g.181701985C>T						CACNA1E_ENST00000367567.4_Silent_p.S528S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000367570.1_Silent_p.S921S|CACNA1E_ENST00000367573.2_Silent_p.S921S|CACNA1E_ENST00000357570.5_Silent_p.S872S	p.S902S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2871	+			921					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.2706C>T	CCDS55664.1																																																																																				0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		64	574	0	0	0	1	0	64	574				
OR2J3	442186	broad.mit.edu	37	6	29079703	29079703	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079703G>T	ENST00000377169.1	+	1	36	c.36G>T	c.(34-36)gaG>gaT	p.E12D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTAGCTCTGAGGGGTACTTTA	0.348																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(34-36)gaG>gaT		olfactory receptor, family 2, subfamily J, member 3							212.0	214.0	213.0					6																	29079703		1137	2491	3628	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079703G>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.36G>T	6.37:g.29079703G>T	ENSP00000366374:p.Glu12Asp						p.E12D	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	36	+			12					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.36G>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.956571	0.00465	.	.	ENSG00000204701	ENST00000377169	T	0.00575	6.46	2.92	1.69	0.24217	.	.	.	.	.	T	0.00178	0.0005	L	0.31845	0.965	0.09310	N	1	B	0.17038	0.02	B	0.20184	0.028	T	0.42699	-0.9436	9	0.34782	T	0.22	.	1.0291	0.01534	0.5117:0.1768:0.1378:0.1736	.	12	O76001	OR2J3_HUMAN	D	12	ENSP00000366374:E12D	ENSP00000366374:E12D	E	+	3	2	OR2J3	29187682	0.015000	0.18098	0.078000	0.20375	0.058000	0.15608	1.383000	0.34385	0.282000	0.22254	0.411000	0.27672	GAG		0.348	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			26	965	1	0	2.39556e-15	1	2.61601e-15	26	965				
TMEM168	64418	broad.mit.edu	37	7	112423788	112423788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112423788G>A	ENST00000312814.6	-	2	1653	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	365						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCTGTTGCAAGAAGACTAAAG	0.413																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1093-1095)Ctt>Ttt		transmembrane protein 168							128.0	127.0	127.0					7																	112423788		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112423788G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1093C>T	7.37:g.112423788G>A	ENSP00000323068:p.Leu365Phe					TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	p.L365F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1653	-			365					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1093C>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016265	0.19355	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	6.07	5.17	0.71159	.	0.175518	0.51477	D	0.000081	T	0.45418	0.1341	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38308	-0.9667	9	0.37606	T	0.19	-12.9641	7.6742	0.28476	0.0658:0.1217:0.6864:0.1262	.	365	Q9H0V1	TM168_HUMAN	F	365;365;5;17	.	ENSP00000323068:L365F	L	-	1	0	TMEM168	112211024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.901000	0.28445	1.513000	0.48852	0.655000	0.94253	CTT		0.413	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		117	514	0	0	0	1	0	117	514				
AIRE	326	broad.mit.edu	37	21	45713016	45713016	+	Silent	SNP	G	G	A	rs373985995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713016G>A	ENST00000291582.5	+	10	1363	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	AIRE_ENST00000355347.4_Silent_p.S205S|AIRE_ENST00000329347.4_Missense_Mutation_p.R178Q	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	412					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TGGACTCCTCGGCCCTGCACC	0.682									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				G|||	1	0.000199681	0.0008	0.0	5008	,	,		10674	0.0		0.0	False		,,,				2504	0.0					ENST00000329347.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(532-534)cGg>cAg		autoimmune regulator		G	,	1,4345		0,1,2172	19.0	21.0	20.0		1236,645	-10.1	0.0	21		20	0,8572		0,0,4286	no	coding-synonymous,coding-synonymous	AIRE	NM_000383.2,NM_000658.2	,	0,1,6458	AA,AG,GG		0.0,0.023,0.0077	,	412/546,215/349	45713016	1,12917	2173	4286	6459	SO:0001819	synonymous_variant	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45713016G>A	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1236G>A	21.37:g.45713016G>A						AIRE_ENST00000291582.5_Silent_p.S412S|AIRE_ENST00000355347.4_Silent_p.S205S	p.R178Q			O43918	AIRE_HUMAN		Colorectal(79;0.0806)	5	533	+			144					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.533G>A	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511408	0.27036	2.3E-4	0.0	ENSG00000160224	ENST00000329347	D	0.96427	-4.01	5.05	-10.1	0.00402	.	.	.	.	.	D	0.88753	0.6522	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.77702	-0.2489	6	0.28530	T	0.3	-22.3082	1.379	0.02226	0.2509:0.1516:0.1255:0.472	.	.	.	.	Q	178	ENSP00000331055:R178Q	ENSP00000331055:R178Q	R	+	2	0	AIRE	44537444	0.000000	0.05858	0.018000	0.16275	0.150000	0.21749	-4.067000	0.00302	-3.437000	0.00163	0.542000	0.68232	CGG		0.682	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			9	45	0	0	0	1	0	9	45				
IL2RB	3560	broad.mit.edu	37	22	37531435	37531435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37531435G>A	ENST00000216223.5	-	8	949	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	251					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCGCTGAGGCCCACGAGG	0.582																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(751-753)Ctc>Ttc		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						108.0	107.0	108.0					22																	37531435		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37531435G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.751C>T	22.37:g.37531435G>A	ENSP00000216223:p.Leu251Phe						p.L251F	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			8	949	-			251					B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.751C>T	CCDS13942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420112|2.420112	0.42918|0.42918	.|.	.|.	ENSG00000100385|ENSG00000100385	ENST00000216223|ENST00000447922	D|.	0.97303|.	-4.33|.	3.75|3.75	-1.56|-1.56	0.08532|0.08532	.|.	2.483920|.	0.01435|.	N|.	0.014867|.	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D|.	0.55385|.	0.971|.	P|.	0.55055|.	0.767|.	T|T	0.32640|0.32640	-0.9899|-0.9899	10|5	0.87932|.	D|.	0|.	-11.4288|-11.4288	1.9921|1.9921	0.03448|0.03448	0.1071:0.1639:0.3579:0.3712|0.1071:0.1639:0.3579:0.3712	.|.	251|.	P14784|.	IL2RB_HUMAN|.	F|L	251|5	ENSP00000216223:L251F|.	ENSP00000216223:L251F|.	L|P	-|-	1|2	0|0	IL2RB|IL2RB	35861381|35861381	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.003000|0.003000	0.03518|0.03518	-0.235000|-0.235000	0.09016|0.09016	-0.275000|-0.275000	0.09219|0.09219	-0.311000|-0.311000	0.09066|0.09066	CTC|CCT		0.582	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			46	523	0	0	0	1	0	46	523				
IFNL3	282617	broad.mit.edu	37	19	39734508	39734508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39734508G>A	ENST00000413851.2	-	4	486	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	150					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TGGTGGAGGCGGCCCCGGGTC	0.687																																						ENST00000413851.2																			0											c.(448-450)Cgc>Tgc		interferon, lambda 3							23.0	31.0	28.0					19																	39734508		2194	4276	6470	SO:0001583	missense	282617							g.chr19:39734508G>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.448C>T	19.37:g.39734508G>A	ENSP00000409000:p.Arg150Cys						p.R150C	NM_172139.2	NP_742151.2					4	486	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.448C>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264525	0.39995	.	.	ENSG00000197110	ENST00000413851	T	0.38240	1.15	3.95	1.67	0.24075	.	0.249527	0.31312	N	0.007864	T	0.36358	0.0964	M	0.85542	2.76	0.32477	N	0.542058	D	0.54047	0.964	B	0.40285	0.325	T	0.54964	-0.8214	10	0.87932	D	0	-16.3203	5.0916	0.14711	0.3115:0.0:0.6885:0.0	.	150	Q8IZI9	IL28B_HUMAN	C	150	ENSP00000409000:R150C	ENSP00000409000:R150C	R	-	1	0	IL28B	44426348	0.321000	0.24625	0.541000	0.28102	0.236000	0.25371	1.241000	0.32743	0.705000	0.31890	0.205000	0.17691	CGC		0.687	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		91	501	0	0	0	1	0	91	501				
PRSS53	339105	broad.mit.edu	37	16	31096484	31096484	+	Silent	SNP	G	G	A	rs371720280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31096484G>A	ENST00000280606.6	-	7	1134	c.981C>T	c.(979-981)ggC>ggT	p.G327G		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	327	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CCAGGGCTCCGCCACAGGCCA	0.667																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(979-981)ggC>ggT		protease, serine, 53							22.0	27.0	26.0					16																	31096484		2076	4214	6290	SO:0001819	synonymous_variant	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31096484G>A		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.981C>T	16.37:g.31096484G>A							p.G327G	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			7	1134	-			327			Peptidase S1 2.			Silent	SNP	ENST00000280606.6	37	c.981C>T	CCDS42153.1																																																																																				0.667	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		19	79	0	0	0	1	0	19	79				
ANK3	288	broad.mit.edu	37	10	61848065	61848065	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848065G>A	ENST00000280772.2	-	29	3571	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M|ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1127	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAATCTTTCGTGATAATCCT	0.433																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3379-3381)aCg>aTg		ankyrin 3, node of Ranvier (ankyrin G)							108.0	109.0	109.0					10																	61848065		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61848065G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3380C>T	10.37:g.61848065G>A	ENSP00000280772:p.Thr1127Met					ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	p.T1127M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3571	-			1127					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3380C>T	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.218208|5.218208	0.95104|0.95104	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000467420|ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.|T;T;T;T	.|0.74632	.|-0.5;-0.86;-0.86;-0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.43416	.|D	.|0.000572	.|D	.|0.89770	.|0.6811	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D	.|0.90263	.|0.4302	.|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1128;261;660;1121;1127;362;261	.|E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.|.;.;.;.;ANK3_HUMAN;.;.	X|M	185|1127;1121;261;261;1128;1107;362;762;762;260;660	.|ENSP00000280772:T1127M;ENSP00000362933:T1121M;ENSP00000347436:T261M;ENSP00000425236:T1128M	.|ENSP00000280772:T1127M	R|T	-|-	1|2	2|0	ANK3|ANK3	61518071|61518071	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	9.448000|9.448000	0.97600|0.97600	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		84	392	0	0	0	1	0	84	392				
FUT6	2528	broad.mit.edu	37	19	5832292	5832292	+	Missense_Mutation	SNP	C	C	T	rs373329854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5832292C>T	ENST00000318336.4	-	3	1481	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FUT6_ENST00000286955.5_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H|FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000524754.1_Missense_Mutation_p.R96H	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	96					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATACACCTTGCGGTCGGCAGT	0.627																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(286-288)cGc>cAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74.0	67.0	69.0		287,287	3.1	0.4	19		69	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	FUT6	NM_000150.2,NM_001040701.1	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	96/360,96/360	5832292	3,13003	2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832292C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.287G>A	19.37:g.5832292C>T	ENSP00000313398:p.Arg96His					FUT6_ENST00000524754.1_Missense_Mutation_p.R96H|FUT6_ENST00000286955.5_Missense_Mutation_p.R96H|FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H	p.R96H	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1481	-			96					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.287G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333141	0.60853	0.0	3.49E-4	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.09	3.09	0.35607	.	0.103025	0.39083	N	0.001471	T	0.52741	0.1753	M	0.83483	2.645	0.30186	N	0.799964	P;P	0.48350	0.909;0.574	P;P	0.52758	0.708;0.513	T	0.60939	-0.7163	10	0.87932	D	0	.	12.3817	0.55311	0.0:1.0:0.0:0.0	.	96;96	C9J8A2;P51993	.;FUT6_HUMAN	H	96	ENSP00000431708:R96H;ENSP00000432954:R96H;ENSP00000313398:R96H;ENSP00000286955:R96H;ENSP00000436547:R96H	ENSP00000286955:R96H	R	-	2	0	FUT6	5783292	0.001000	0.12720	0.376000	0.26042	0.020000	0.10135	-0.043000	0.12043	1.666000	0.50821	0.436000	0.28706	CGC		0.627	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		99	328	0	0	0	1	0	99	328				
LRRC7	57554	broad.mit.edu	37	1	70504112	70504112	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70504112A>G	ENST00000035383.5	+	19	2521	c.2491A>G	c.(2491-2493)Aca>Gca	p.T831A	LRRC7_ENST00000310961.5_Missense_Mutation_p.T836A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	831						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACACAGACACACACCAGAAAC	0.498																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2506-2508)Aca>Gca		leucine rich repeat containing 7							75.0	78.0	77.0					1																	70504112		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504112A>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2491A>G	1.37:g.70504112A>G	ENSP00000035383:p.Thr831Ala					LRRC7_ENST00000035383.5_Missense_Mutation_p.T831A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A	p.T836A			Q96NW7	LRRC7_HUMAN			22	2924	+			831					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2506A>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732561	0.30684	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38077	1.16;1.24;2.33	5.53	4.34	0.51931	.	0.180173	0.50627	D	0.000103	T	0.14056	0.0340	L	0.40543	1.245	0.35902	D	0.830459	B;B;B	0.17465	0.007;0.005;0.022	B;B;B	0.19148	0.018;0.011;0.024	T	0.06770	-1.0808	10	0.44086	T	0.13	.	7.076	0.25205	0.7017:0.1522:0.0:0.1461	.	115;831;831	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	A	836;831;115;654	ENSP00000309245:T836A;ENSP00000035383:T831A;ENSP00000394867:T115A	ENSP00000035383:T831A	T	+	1	0	LRRC7	70276700	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.430000	0.52807	2.113000	0.64589	0.383000	0.25322	ACA		0.498	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		34	276	0	0	0	1	0	34	276				
THOC7	80145	broad.mit.edu	37	3	63823667	63823667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63823667G>A	ENST00000295899.5	-	4	449	c.337C>T	c.(337-339)Cga>Tga	p.R113*	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	113	Interaction with NIF3L1.|Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGATTTTTTCGTATTCGTTTT	0.328																																					Colon(48;665 1127 6720 18651)	ENST00000295899.5																			0				central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4						c.(337-339)Cga>Tga		THO complex 7 homolog (Drosophila)							173.0	160.0	164.0					3																	63823667		2203	4299	6502	SO:0001587	stop_gained	80145				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding	g.chr3:63823667G>A	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"""THO complex subunits"""	29874	protein-coding gene	gene with protein product	"""Ngg1 interacting factor 3 like 1 binding protein 1"", ""functional spliceosome-associated protein 24"""	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.337C>T	3.37:g.63823667G>A	ENSP00000295899:p.Arg113*					THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	p.R113*	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)	4	449	-			113			Interaction with NIF3L1.|Interaction with THOC5.		Q6P1L3|Q8WUF2|Q9H5H0	Nonsense_Mutation	SNP	ENST00000295899.5	37	c.337C>T	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611060	0.87258	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.07	4.22	0.49857	.	0.061422	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6777	15.3019	0.73958	0.0:0.0:0.6366:0.3634	.	.	.	.	X	113	.	ENSP00000295899:R113X	R	-	1	2	THOC7	63798707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.828000	0.55753	0.825000	0.34637	0.655000	0.94253	CGA		0.328	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		94	465	0	0	0	1	0	94	465				
DUSP27	92235	broad.mit.edu	37	1	167088604	167088604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167088604T>C	ENST00000361200.2	+	5	722	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	186					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGATCCAGTACCTGGGTGT	0.567																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(556-558)Tac>Cac		dual specificity phosphatase 27 (putative)							132.0	117.0	122.0					1																	167088604		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088604T>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.556T>C	1.37:g.167088604T>C	ENSP00000354483:p.Tyr186His					DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H	p.Y186H			Q5VZP5	DUS27_HUMAN			5	722	+			186					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.556T>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801391	0.90538	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.63913	-0.07;-0.07;-0.07	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.78775	-0.2072	10	0.87932	D	0	-24.5316	15.0182	0.71605	0.0:0.0:0.0:1.0	.	186	Q5VZP5	DUS27_HUMAN	H	186	ENSP00000354483:Y186H;ENSP00000271385:Y186H;ENSP00000404874:Y186H	ENSP00000271385:Y186H	Y	+	1	0	DUSP27	165355228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.936000	0.56123	0.482000	0.46254	TAC		0.567	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		28	266	0	0	0	1	0	28	266				
KCNK18	338567	broad.mit.edu	37	10	118960693	118960693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118960693C>T	ENST00000334549.1	+	2	247	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	83					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAAACAGGATCTCCAGGGGCA	0.517																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(247-249)Ctc>Ttc		potassium channel, subfamily K, member 18							174.0	167.0	170.0					10																	118960693		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118960693C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.247C>T	10.37:g.118960693C>T	ENSP00000334650:p.Leu83Phe						p.L83F	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	247	+		Colorectal(252;0.19)	83					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.247C>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694040	0.15039	.	.	ENSG00000186795	ENST00000334549	T	0.16324	2.35	4.34	-2.37	0.06643	.	0.703620	0.13804	N	0.361593	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	P	0.45283	0.855	B	0.35859	0.212	T	0.40098	-0.9581	10	0.19590	T	0.45	.	8.3945	0.32548	0.0971:0.318:0.5131:0.0718	.	83	Q7Z418	KCNKI_HUMAN	F	83	ENSP00000334650:L83F	ENSP00000334650:L83F	L	+	1	0	KCNK18	118950683	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.261000	0.08694	-0.423000	0.07394	-0.176000	0.13171	CTC		0.517	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		171	785	0	0	0	1	0	171	785				
CWC22	57703	broad.mit.edu	37	2	180837941	180837941	+	Silent	SNP	C	C	T	rs367980851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180837941C>T	ENST00000410053.3	-	8	1082	c.783G>A	c.(781-783)gcG>gcA	p.A261A	CWC22_ENST00000295749.6_Silent_p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	261	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.A261A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TAATAAGATGCGCCACAAATT	0.358													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14506	0.0		0.0	False		,,,				2504	0.0					ENST00000410053.3																			1	Substitution - coding silent(1)	p.A261A(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(781-783)gcG>gcA		CWC22 spliceosome-associated protein homolog (S. cerevisiae)		T		5,3695		0,5,1845	57.0	53.0	55.0		783	-6.3	1.0	2		55	0,8194		0,0,4097	no	coding-synonymous	CWC22	NM_020943.2		0,5,5942	TT,TC,CC		0.0,0.1351,0.042		261/909	180837941	5,11889	1850	4097	5947	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180837941C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.783G>A	2.37:g.180837941C>T						CWC22_ENST00000295749.6_Silent_p.A261A	p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			8	1082	-			261			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.783G>A	CCDS46465.1																																																																																				0.358	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		11	56	0	0	0	1	0	11	56				
ANK2	287	broad.mit.edu	37	4	114158312	114158312	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158312C>A	ENST00000357077.4	+	6	706	c.653C>A	c.(652-654)gCt>gAt	p.A218D	ANK2_ENST00000506722.1_Missense_Mutation_p.A197D|ANK2_ENST00000264366.6_Missense_Mutation_p.A218D|ANK2_ENST00000394537.3_Missense_Mutation_p.A218D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	218					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACCACAATGCTGACGTACAA	0.488																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(652-654)gCt>gAt		ankyrin 2, neuronal							143.0	131.0	135.0					4																	114158312		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114158312C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.653C>A	4.37:g.114158312C>A	ENSP00000349588:p.Ala218Asp					ANK2_ENST00000506722.1_Missense_Mutation_p.A197D|ANK2_ENST00000394537.3_Missense_Mutation_p.A218D|ANK2_ENST00000264366.6_Missense_Mutation_p.A218D	p.A218D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	706	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	218					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.653C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896285	0.91962	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71698	-0.59;-0.13;-0.38;-0.27;-0.59;-0.32;-0.32	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000096	T	0.79851	0.4517	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.922;1.0;0.999;0.998	T	0.80569	-0.1324	10	0.66056	D	0.02	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	218;218;218;197;197	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	D	197;197;197;233;218;218;218;197	ENSP00000423799:A197D;ENSP00000421011:A197D;ENSP00000421067:A197D;ENSP00000424722:A233D;ENSP00000378044:A218D;ENSP00000349588:A218D;ENSP00000264366:A218D	ENSP00000264366:A218D	A	+	2	0	ANK2	114377761	1.000000	0.71417	0.637000	0.29366	0.752000	0.42762	7.776000	0.85560	2.775000	0.95449	0.650000	0.86243	GCT		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		104	535	1	0	1.43697e-34	1	1.7097e-34	104	535				
CHD4	1108	broad.mit.edu	37	12	6701917	6701917	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6701917T>G	ENST00000357008.2	-	18	2882	c.2719A>C	c.(2719-2721)Aac>Cac	p.N907H	CHD4_ENST00000309577.6_Missense_Mutation_p.N907H|CHD4_ENST00000544040.1_Missense_Mutation_p.N900H|CHD4_ENST00000544484.1_Missense_Mutation_p.N904H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	907	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCAGATTGTTTTGTAATGGT	0.443																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2719-2721)Aac>Cac		chromodomain helicase DNA binding protein 4							118.0	118.0	118.0					12																	6701917		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701917T>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2719A>C	12.37:g.6701917T>G	ENSP00000349508:p.Asn907His					CHD4_ENST00000544040.1_Missense_Mutation_p.N900H|CHD4_ENST00000357008.2_Missense_Mutation_p.N907H|CHD4_ENST00000544484.1_Missense_Mutation_p.N904H	p.N907H			Q14839	CHD4_HUMAN			18	2882	-			907			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2719A>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371176	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.996	D	0.99509	1.0955	10	0.87932	D	0	23.5174	15.9051	0.79423	0.0:0.0:0.0:1.0	.	907;907;900	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	904;900;907;907;881	ENSP00000440392:N904H;ENSP00000440542:N900H;ENSP00000312419:N907H;ENSP00000349508:N907H	ENSP00000312419:N907H	N	-	1	0	CHD4	6572178	1.000000	0.71417	0.935000	0.37517	0.920000	0.55202	8.013000	0.88655	2.151000	0.67156	0.455000	0.32223	AAC		0.443	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		16	377	0	0	0	1	0	16	377				
ISM2	145501	broad.mit.edu	37	14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T	rs201324121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942269C>T	ENST00000342219.4	-	7	1441	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_ENST00000429906.1_Missense_Mutation_p.R381H|ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.R374H	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	462	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672													C|||	0	0.0	0.0	0.0	5008	,	,		16221	0.0		0.0	False		,,,				2504	0.0					ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1120-1122)cGc>cAc		isthmin 2							30.0	32.0	32.0					14																	77942269		2203	4298	6501	SO:0001583	missense	145501					extracellular region		g.chr14:77942269C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1385G>A	14.37:g.77942269C>T	ENSP00000341490:p.Arg462His					ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000342219.4_Missense_Mutation_p.R462H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.R381H	p.R374H			Q6H9L7	ISM2_HUMAN			8	1512	-			462					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1121G>A	CCDS9864.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.228	1.035076	0.19590	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24723	1.84;1.87;1.87;2.18	4.85	-1.09	0.09904	AMOP (3);	0.470130	0.21324	N	0.076419	T	0.17365	0.0417	L	0.50333	1.59	0.09310	N	1	B;B	0.29232	0.055;0.238	B;B	0.20955	0.011;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	-1.9949	5.174	0.15126	0.0:0.3412:0.155:0.5038	.	381;462	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	H	462;381;381;374	ENSP00000341490:R462H;ENSP00000416773:R381H;ENSP00000395387:R381H;ENSP00000377289:R374H	ENSP00000341490:R462H	R	-	2	0	ISM2	77012022	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.959000	0.29240	-0.097000	0.12307	-0.467000	0.05162	CGC		0.672	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		9	241	0	0	0	1	0	9	241				
ANXA6	309	broad.mit.edu	37	5	150498908	150498908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150498908G>A	ENST00000354546.5	-	18	1618	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I|ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	464					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGTCCGAGTGGCCAGGAT	0.552																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1390-1392)aCt>aTt		annexin A6							100.0	100.0	100.0					5																	150498908		1894	4107	6001	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150498908G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1391C>T	5.37:g.150498908G>A	ENSP00000346550:p.Thr464Ile					ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I|ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I	p.T464I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	1618	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	464					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1391C>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920715	0.92249	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	5.36	5.36	0.76844	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.13335	-1.0513	10	0.87932	D	0	.	17.8553	0.88761	0.0:0.0:1.0:0.0	.	257;464;464	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	464;432;121;464;257;338	ENSP00000346550:T464I;ENSP00000430517:T432I;ENSP00000366980:T121I;ENSP00000348889:T464I;ENSP00000430420:T257I	ENSP00000346550:T464I	T	-	2	0	ANXA6	150479101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.733000	0.74796	2.502000	0.84385	0.655000	0.94253	ACT		0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		71	286	0	0	0	1	0	71	286				
SSPO	23145	broad.mit.edu	37	7	149489462	149489462	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149489462T>C	ENST00000378016.2	+	0	5615							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCCTGGTGGACGGTGCC	0.701																																						ENST00000378016.2																			0													SCO-spondin							13.0	21.0	18.0					7																	149489462		2113	4208	6321			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489462T>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489462T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5615	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.701	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				11	47	0	0	0	1	0	11	47				
GABRD	2563	broad.mit.edu	37	1	1956825	1956825	+	Silent	SNP	C	C	A	rs576565752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1956825C>A	ENST00000378585.4	+	3	317	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	78					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGACCACATCTCAGAGGCCA	0.652																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(232-234)atC>atA		gamma-aminobutyric acid (GABA) A receptor, delta							64.0	67.0	66.0					1																	1956825		2203	4300	6503	SO:0001819	synonymous_variant	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1956825C>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.234C>A	1.37:g.1956825C>A							p.I78I	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	317	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	78					Q8N4N9	Silent	SNP	ENST00000378585.4	37	c.234C>A	CCDS36.1																																																																																				0.652	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		64	519	1	0	3.95532e-38	1	4.76227e-38	64	519				
FAT4	79633	broad.mit.edu	37	4	126369632	126369632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126369632G>A	ENST00000394329.3	+	9	7474	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_ENST00000335110.5_Silent_p.A785A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	Cadherin 24. {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						TTGTCTTTGCGGTTACAGTCA	0.368																																						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.(7459-7461)gcG>gcA		FAT atypical cadherin 4							89.0	90.0	90.0					4																	126369632		2203	4299	6502	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369632G>A	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.7461G>A	4.37:g.126369632G>A						FAT4_ENST00000335110.5_Silent_p.A785A	p.A2487A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	7474	+			2487			Cadherin 24.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.7461G>A	CCDS3732.3																																																																																				0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		79	458	0	0	0	1	0	79	458				
ZNF425	155054	broad.mit.edu	37	7	148801589	148801589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801589G>A	ENST00000378061.2	-	4	1506	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	458					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R458R(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTGGTGGGCGCGCATGGCGT	0.662																																						ENST00000378061.2																			1	Substitution - coding silent(1)	p.R458R(1)	large_intestine(1)	breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1372-1374)cgC>cgT		zinc finger protein 425							33.0	34.0	34.0					7																	148801589		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801589G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1374C>T	7.37:g.148801589G>A							p.R458R	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1506	-	Melanoma(164;0.15)		458					B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1374C>T	CCDS34773.1																																																																																				0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		56	290	0	0	0	1	0	56	290				
WDSUB1	151525	broad.mit.edu	37	2	160112844	160112844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160112844C>T	ENST00000409990.3	-	9	1251	c.995G>A	c.(994-996)tGg>tAg	p.W332*	WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	332	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CTCCTCTGACCAATCTTCGGT	0.333																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(994-996)tGg>tAg		WD repeat, sterile alpha motif and U-box domain containing 1							103.0	99.0	100.0					2																	160112844		2203	4300	6503	SO:0001587	stop_gained	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160112844C>T	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.995G>A	2.37:g.160112844C>T	ENSP00000387078:p.Trp332*					WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*	p.W332*	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			9	1251	-			332			SAM.		Q53TI9|Q8N6N8	Nonsense_Mutation	SNP	ENST00000409990.3	37	c.995G>A	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	38	6.809114	0.97853	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9615	0.97252	0.0:1.0:0.0:0.0	.	.	.	.	X	332;240;332;332;332	.	ENSP00000350866:W240X	W	-	2	0	WDSUB1	159821090	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.354000	0.79424	2.713000	0.92767	0.655000	0.94253	TGG		0.333	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		68	228	0	0	0	1	0	68	228				
USP40	55230	broad.mit.edu	37	2	234436099	234436099	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234436099A>C	ENST00000427112.2	-	12	1711	c.1676T>G	c.(1675-1677)tTt>tGt	p.F559C	USP40_ENST00000450966.1_Missense_Mutation_p.F571C|USP40_ENST00000251722.6_Missense_Mutation_p.F559C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	559					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCTTTTATCAAAGGTCAAATC	0.433																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1675-1677)tTt>tGt		ubiquitin specific peptidase 40							83.0	78.0	79.0					2																	234436099		1857	4102	5959	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234436099A>C	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1676T>G	2.37:g.234436099A>C	ENSP00000387898:p.Phe559Cys					USP40_ENST00000450966.1_Missense_Mutation_p.F571C|USP40_ENST00000427112.2_Missense_Mutation_p.F559C	p.F559C			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	13	1793	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	559					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.1676T>G	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086059	0.76642	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.06068	3.35;3.36;3.36	4.96	3.75	0.43078	.	1.937410	0.01882	N	0.037909	T	0.25344	0.0616	M	0.62723	1.935	0.42061	D	0.991161	D;D	0.76494	0.999;0.999	P;D	0.66716	0.885;0.946	T	0.00009	-1.2467	10	0.87932	D	0	.	10.947	0.47306	0.8595:0.0:0.0:0.1405	.	559;571	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	C	571;559;559	ENSP00000415434:F571C;ENSP00000251722:F559C;ENSP00000387898:F559C	ENSP00000251722:F559C	F	-	2	0	USP40	234100838	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.814000	0.69208	0.788000	0.33755	0.482000	0.46254	TTT		0.433	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		55	157	0	0	0	1	0	55	157				
TSEN2	80746	broad.mit.edu	37	3	12570396	12570396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12570396G>A	ENST00000284995.6	+	9	1496	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|TSEN2_ENST00000444864.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q|C3orf83_ENST00000567514.1_Intron	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	370					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTGCTATATCGGAAAGGCCCT	0.338																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(1030-1032)cGg>cAg		TSEN2 tRNA splicing endonuclease subunit							116.0	117.0	117.0					3																	12570396		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12570396G>A	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1109G>A	3.37:g.12570396G>A	ENSP00000284995:p.Arg370Gln					C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q|TSEN2_ENST00000284995.6_Missense_Mutation_p.R370Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q	p.R344Q	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			8	1418	+			370					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.1031G>A	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038279	0.75617	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.57436	0.4;0.53;0.49;0.46;0.45;0.45;0.49;0.53	5.92	5.92	0.95590	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	0.060440	0.64402	D	0.000004	T	0.48429	0.1499	L	0.38649	1.16	0.80722	D	1	B;B;B;B	0.25850	0.136;0.022;0.072;0.052	B;B;B;B	0.29176	0.099;0.064;0.079;0.043	T	0.33163	-0.9879	10	0.36615	T	0.2	-23.2315	19.0928	0.93235	0.0:0.0:1.0:0.0	.	344;370;344;311	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	Q	370;344;311;353;370;370;344;343;344	ENSP00000406238:R370Q;ENSP00000323188:R344Q;ENSP00000392029:R311Q;ENSP00000373307:R353Q;ENSP00000385976:R370Q;ENSP00000284995:R370Q;ENSP00000407974:R344Q;ENSP00000416510:R344Q	ENSP00000284995:R370Q	R	+	2	0	TSEN2	12545396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.489000	0.73641	2.810000	0.96702	0.650000	0.86243	CGG		0.338	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		73	351	0	0	0	1	0	73	351				
HOXA7	3204	broad.mit.edu	37	7	27194583	27194583	+	Missense_Mutation	SNP	G	G	A	rs370998918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27194583G>A	ENST00000242159.3	-	2	771	c.638C>T	c.(637-639)gCg>gTg	p.A213V	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	213					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						ggccttgtccGCGGCAGCAGT	0.652																																						ENST00000242159.3																			0				endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.(637-639)gCg>gTg		homeobox A7		G	VAL/ALA	0,4404		0,0,2202	54.0	63.0	60.0		638	2.7	0.0	7		60	1,8597	1.2+/-3.3	0,1,4298	no	missense	HOXA7	NM_006896.3	64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	213/231	27194583	1,13001	2202	4299	6501	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27194583G>A		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.638C>T	7.37:g.27194583G>A	ENSP00000242159:p.Ala213Val					HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	p.A213V	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			2	771	-			213					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.638C>T	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145607	0.06627	0.0	1.16E-4	ENSG00000122592	ENST00000242159	D	0.90955	-2.76	4.49	2.67	0.31697	.	0.298004	0.23277	N	0.049943	T	0.75049	0.3797	N	0.08118	0	0.19775	N	0.999959	B	0.15473	0.013	B	0.04013	0.001	T	0.60434	-0.7264	10	0.30078	T	0.28	.	2.5096	0.04653	0.3265:0.0:0.4544:0.219	.	213	P31268	HXA7_HUMAN	V	213	ENSP00000242159:A213V	ENSP00000242159:A213V	A	-	2	0	HOXA7	27161108	0.000000	0.05858	0.008000	0.14137	0.027000	0.11550	0.868000	0.27982	0.894000	0.36317	-0.369000	0.07265	GCG		0.652	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			11	658	0	0	0	1	0	11	658				
PIK3CD	5293	broad.mit.edu	37	1	9781553	9781553	+	Silent	SNP	C	C	T	rs151235777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781553C>T	ENST00000377346.4	+	15	2058	c.1863C>T	c.(1861-1863)taC>taT	p.Y621Y	PIK3CD_ENST00000536656.1_Silent_p.Y645Y|PIK3CD_ENST00000361110.2_Silent_p.Y645Y|PIK3CD_ENST00000543390.1_Silent_p.Y288Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	621	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TGCTCAAGTACGAGTCCTACC	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19489	0.0		0.0	False		,,,				2504	0.0					ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1933-1935)taC>taT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta		C		1,4405	2.1+/-5.4	0,1,2202	58.0	57.0	57.0		1863	-1.6	0.9	1	dbSNP_134	57	26,8574	18.5+/-59.3	0,26,4274	no	coding-synonymous	PIK3CD	NM_005026.3		0,27,6476	TT,TC,CC		0.3023,0.0227,0.2076		621/1045	9781553	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9781553C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1863C>T	1.37:g.9781553C>T						PIK3CD_ENST00000361110.2_Silent_p.Y645Y|PIK3CD_ENST00000543390.1_Silent_p.Y288Y|PIK3CD_ENST00000377346.4_Silent_p.Y621Y	p.Y645Y			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	15	2143	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	621					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1935C>T	CCDS104.1																																																																																				0.632	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		43	166	0	0	0	1	0	43	166				
SENP3	26168	broad.mit.edu	37	17	7468084	7468084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7468084G>T	ENST00000429205.2	+	3	907	c.858G>T	c.(856-858)caG>caT	p.Q286H	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000321337.7_Missense_Mutation_p.Q286H|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	286						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AGCTTTTTCAGGGCTCAGATT	0.617																																						ENST00000321337.7																			0				central_nervous_system(1)|ovary(1)	2						c.(856-858)caG>caT		SUMO1/sentrin/SMT3 specific peptidase 3							42.0	47.0	46.0					17																	7468084		1971	4165	6136	SO:0001583	missense	26168				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	g.chr17:7468084G>T	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.858G>T	17.37:g.7468084G>T	ENSP00000403712:p.Gln286His					SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.Q286H	p.Q286H	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN			3	1178	+		Prostate(122;0.157)	286					Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37	c.858G>T		.	.	.	.	.	.	.	.	.	.	G	13.72	2.319953	0.41096	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.36520	1.25;1.25	5.98	2.42	0.29668	.	0.117651	0.38778	N	0.001579	T	0.19287	0.0463	N	0.14661	0.345	0.27963	N	0.936695	B	0.27732	0.187	B	0.30855	0.121	T	0.11717	-1.0576	10	0.33940	T	0.23	-4.314	6.2244	0.20700	0.1757:0.0:0.6714:0.1528	.	286	Q9H4L4	SENP3_HUMAN	H	286	ENSP00000314029:Q286H;ENSP00000403712:Q286H	ENSP00000314029:Q286H	Q	+	3	2	SENP3	7408808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.579000	0.23788	0.840000	0.34995	0.591000	0.81541	CAG		0.617	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		9	273	1	0	5.4927e-09	1	5.7613e-09	9	273				
HTR1F	3355	broad.mit.edu	37	3	88040023	88040023	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040023T>C	ENST00000319595.4	+	1	178	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	42					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AACTATCAACTCCCTTGTGAT	0.453																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(124-126)Tcc>Ccc		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						163.0	154.0	157.0					3																	88040023		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040023T>C	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.124T>C	3.37:g.88040023T>C	ENSP00000322924:p.Ser42Pro						p.S42P	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	178	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	42						Missense_Mutation	SNP	ENST00000319595.4	37	c.124T>C	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517643	0.64634	.	.	ENSG00000179097	ENST00000319595	T	0.39056	1.1	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.053859	0.85682	D	0.000000	T	0.55832	0.1945	M	0.80982	2.52	0.39807	D	0.972652	D	0.54397	0.966	P	0.50231	0.635	T	0.65401	-0.6177	10	0.66056	D	0.02	.	13.5477	0.61713	0.0:0.0:0.0:1.0	.	42	P30939	5HT1F_HUMAN	P	42	ENSP00000322924:S42P	ENSP00000322924:S42P	S	+	1	0	HTR1F	88122713	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.145000	0.71769	2.100000	0.63781	0.477000	0.44152	TCC		0.453	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		78	667	0	0	0	1	0	78	667				
SPAG1	6674	broad.mit.edu	37	8	101196260	101196260	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101196260T>C	ENST00000388798.2	+	6	756	c.565T>C	c.(565-567)Tct>Cct	p.S189P	SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P|SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P|Y_RNA_ENST00000362797.1_RNA|SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	189					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCACACTTGTCTAAAATTGA	0.264																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(565-567)Tct>Cct		sperm associated antigen 1							50.0	51.0	51.0					8																	101196260		2202	4291	6493	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101196260T>C	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.565T>C	8.37:g.101196260T>C	ENSP00000373450:p.Ser189Pro					SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P|SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P|SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P	p.S189P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	6	756	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	189					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.565T>C	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.547190	0.27652	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.66	4.53	0.55603	.	2.230900	0.01467	N	0.016126	T	0.19005	0.0456	L	0.53249	1.67	0.33878	D	0.635808	B;B	0.15930	0.007;0.015	B;B	0.16289	0.007;0.015	T	0.46978	-0.9152	10	0.26408	T	0.33	-21.5674	3.8289	0.08865	0.0:0.2901:0.0:0.7099	.	189;189	Q07617;G3XAM3	SPAG1_HUMAN;.	P	189	ENSP00000427716:S189P;ENSP00000251809:S189P;ENSP00000428070:S189P;ENSP00000373450:S189P	ENSP00000251809:S189P	S	+	1	0	SPAG1	101265436	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.713000	0.47194	2.153000	0.67306	0.459000	0.35465	TCT		0.264	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		37	147	0	0	0	1	0	37	147				
PKP1	5317	broad.mit.edu	37	1	201286865	201286865	+	Missense_Mutation	SNP	C	C	A	rs12562244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201286865C>A	ENST00000352845.3	+	5	1012	c.1012C>A	c.(1012-1014)Ctg>Atg	p.L338M	PKP1_ENST00000263946.3_Missense_Mutation_p.L338M|PKP1_ENST00000367324.3_Missense_Mutation_p.L338M|PKP1_ENST00000475988.1_3'UTR			Q13835	PKP1_HUMAN	plakophilin 1	338					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AGTCAGCCTCCTGAGGAGAAC	0.652																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1012-1014)Ctg>Atg		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							32.0	34.0	33.0					1																	201286865		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201286865C>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1012C>A	1.37:g.201286865C>A	ENSP00000295597:p.Leu338Met					PKP1_ENST00000367324.3_Missense_Mutation_p.L338M|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Missense_Mutation_p.L338M	p.L338M	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			5	1263	+			338					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.1012C>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330338	0.81690	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.64260	-0.09;-0.09;-0.09	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.072941	0.56097	D	0.000023	T	0.80265	0.4591	M	0.85777	2.775	0.80722	D	1	D;D	0.58970	0.975;0.984	P;P	0.60415	0.874;0.867	D	0.83888	0.0283	10	0.87932	D	0	-6.6512	18.8834	0.92365	0.0:1.0:0.0:0.0	rs12562244	338;338	Q13835-2;Q13835	.;PKP1_HUMAN	M	338	ENSP00000356293:L338M;ENSP00000263946:L338M;ENSP00000295597:L338M	ENSP00000263946:L338M	L	+	1	2	PKP1	199553488	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.285000	0.58989	2.466000	0.83321	0.551000	0.68910	CTG		0.652	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		8	251	1	0	2.52707e-12	1	2.7121e-12	8	251				
SST	6750	broad.mit.edu	37	3	187386922	187386922	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386922C>T	ENST00000287641.3	-	2	389	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	94					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GTGCCATAGCCGGGTTTGAGT	0.493																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(280-282)ccG>ccA		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						215.0	210.0	212.0					3																	187386922		2203	4300	6503	SO:0001819	synonymous_variant	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386922C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.282G>A	3.37:g.187386922C>T							p.P94P	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	389	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		94					B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	c.282G>A	CCDS3288.1																																																																																				0.493	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		246	1036	0	0	0	1	0	246	1036				
SORCS2	57537	broad.mit.edu	37	4	7731317	7731317	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7731317A>G	ENST00000507866.2	+	23	3095	c.2986A>G	c.(2986-2988)Acc>Gcc	p.T996A	SORCS2_ENST00000329016.9_Missense_Mutation_p.T824A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	996					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCGCAGGAGACCAGCGTCCC	0.627																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2986-2988)Acc>Gcc		sortilin-related VPS10 domain containing receptor 2							37.0	45.0	42.0					4																	7731317		2032	4200	6232	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7731317A>G	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2986A>G	4.37:g.7731317A>G	ENSP00000422185:p.Thr996Ala					SORCS2_ENST00000329016.9_Missense_Mutation_p.T824A	p.T996A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			23	3095	+			996					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2986A>G	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197626	0.38806	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.18657	2.2;2.26	4.6	4.6	0.57074	.	0.067623	0.64402	D	0.000019	T	0.26011	0.0634	M	0.69358	2.11	0.50632	D	0.999888	P;P	0.47253	0.892;0.651	B;B	0.41466	0.358;0.266	T	0.09574	-1.0668	10	0.66056	D	0.02	.	13.2364	0.59971	1.0:0.0:0.0:0.0	.	824;996	B5MED8;Q96PQ0	.;SORC2_HUMAN	A	996;824	ENSP00000422185:T996A;ENSP00000329124:T824A	ENSP00000329124:T824A	T	+	1	0	SORCS2	7782217	1.000000	0.71417	0.992000	0.48379	0.129000	0.20672	4.535000	0.60629	1.718000	0.51419	0.514000	0.50259	ACC		0.627	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		10	41	0	0	0	1	0	10	41				
TBC1D32	221322	broad.mit.edu	37	6	121624817	121624817	+	Silent	SNP	C	C	T	rs374800522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:121624817C>T	ENST00000398212.2	-	9	1075	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TBC1D32_ENST00000275159.6_Silent_p.P342P	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	342					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.P342P(2)									AAAAGTAGATCGGATCCAAAA	0.323																																						ENST00000275159.6																			2	Substitution - coding silent(2)	p.P342P(2)	large_intestine(1)|pancreas(1)								c.(1024-1026)ccG>ccA		TBC1 domain family, member 32							95.0	87.0	90.0					6																	121624817		1810	4074	5884	SO:0001819	synonymous_variant	221322							g.chr6:121624817C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1026G>A	6.37:g.121624817C>T						TBC1D32_ENST00000398212.2_Silent_p.P342P	p.P342P							9	1025	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.1026G>A	CCDS43501.1																																																																																				0.323	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		34	123	0	0	0	1	0	34	123				
GRAMD1C	54762	broad.mit.edu	37	3	113563463	113563463	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113563463T>A	ENST00000358160.4	+	2	633	c.141T>A	c.(139-141)aaT>aaA	p.N47K	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	47						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGGCCAAATTTACATAATT	0.368																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(139-141)aaT>aaA		GRAM domain containing 1C							119.0	124.0	122.0					3																	113563463		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113563463T>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.141T>A	3.37:g.113563463T>A	ENSP00000350881:p.Asn47Lys					GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	p.N47K	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			2	633	+			47					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.141T>A	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246325	0.22796	.	.	ENSG00000178075	ENST00000358160	T	0.29397	1.57	5.58	3.25	0.37280	.	0.928783	0.08833	N	0.887002	T	0.16727	0.0402	N	0.24115	0.695	0.20489	N	0.999892	B	0.15141	0.012	B	0.16289	0.015	T	0.34354	-0.9832	10	0.02654	T	1	.	6.0	0.19515	0.0:0.2034:0.0:0.7966	.	47	Q8IYS0	GRM1C_HUMAN	K	47	ENSP00000350881:N47K	ENSP00000350881:N47K	N	+	3	2	GRAMD1C	115046153	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.635000	0.24629	0.970000	0.38263	0.533000	0.62120	AAT		0.368	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		15	583	0	0	0	1	0	15	583				
ATP8A1	10396	broad.mit.edu	37	4	42577717	42577717	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42577717C>A	ENST00000381668.5	-	13	1360		c.e13-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTCAAGATCCTTTAATAAAA	0.338																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.e13-1		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						148.0	154.0	152.0					4																	42577717		2203	4300	6503	SO:0001630	splice_region_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42577717C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1129-1G>T	4.37:g.42577717C>A						ATP8A1_ENST00000264449.10_Splice_Site		NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			13	1360	-								Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37		CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724430	0.89298	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42272474	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.707000	0.84623	2.885000	0.99019	0.655000	0.94253	.		0.338	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Intron	90	477	1	0	4.85238e-36	1	5.80295e-36	90	477				
PMS1	5378	broad.mit.edu	37	2	190728551	190728551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190728551C>T	ENST00000441310.2	+	10	2172	c.1939C>T	c.(1939-1941)Cta>Tta	p.L647L	PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409823.3_Silent_p.L608L|PMS1_ENST00000432292.3_Silent_p.L471L|PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	647					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACAAATGTCACTAAAAGATGG	0.358			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1939-1941)Cta>Tta	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							113.0	123.0	119.0					2																	190728551		2203	4300	6503	SO:0001819	synonymous_variant	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728551C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1939C>T	2.37:g.190728551C>T						PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000432292.3_Silent_p.L471L|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Silent_p.L608L|PMS1_ENST00000447232.2_Intron	p.L647L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2172	+			647					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	ENST00000441310.2	37	c.1939C>T	CCDS2302.1																																																																																				0.358	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			150	458	0	0	0	1	0	150	458				
CPEB4	80315	broad.mit.edu	37	5	173316988	173316988	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316988A>G	ENST00000265085.5	+	1	1706	c.252A>G	c.(250-252)caA>caG	p.Q84Q	CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000519835.1_Silent_p.Q84Q|CPEB4_ENST00000334035.5_Silent_p.Q84Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	84					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAGTCAGCAACAGGAACAGC	0.483																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(250-252)caA>caG		cytoplasmic polyadenylation element binding protein 4							94.0	100.0	98.0					5																	173316988		2203	4300	6503	SO:0001819	synonymous_variant	80315						nucleotide binding|RNA binding	g.chr5:173316988A>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.252A>G	5.37:g.173316988A>G						CPEB4_ENST00000334035.5_Silent_p.Q84Q|CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000519835.1_Silent_p.Q84Q	p.Q84Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1706	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	84					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	c.252A>G	CCDS4390.1																																																																																				0.483	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		57	594	0	0	0	1	0	57	594				
RGS3	5998	broad.mit.edu	37	9	116353676	116353676	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116353676C>T	ENST00000374140.2	+	22	3288	c.3079C>T	c.(3079-3081)Cta>Tta	p.L1027L	RGS3_ENST00000343817.5_Splice_Site_p.L746L|RGS3_ENST00000350696.5_Splice_Site_p.L1027L|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000374134.3_Splice_Site_p.L348L|RGS3_ENST00000462143.1_Splice_Site_p.L348L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Splice_Site_p.L420L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1027					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCAAAAACCTGTACGTTGG	0.592																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e22+1		regulator of G-protein signaling 3							94.0	86.0	89.0					9																	116353676		2203	4300	6503	SO:0001630	splice_region_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116353676C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3080+1C>T	9.37:g.116353676C>T						RGS3_ENST00000343817.5_Splice_Site_p.L746_splice|RGS3_ENST00000394646.3_Splice_Site_p.L420_splice|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Splice_Site_p.L348_splice|RGS3_ENST00000350696.5_Splice_Site_p.L1027_splice|RGS3_ENST00000462143.1_Splice_Site_p.L348_splice	p.L1027_splice	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			22	3288	+			1027					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Splice_Site	SNP	ENST00000374140.2	37	c.3080_splice	CCDS43869.1																																																																																				0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	Silent	45	194	0	0	0	1	0	45	194				
CTSH	1512	broad.mit.edu	37	15	79224731	79224731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79224731C>T	ENST00000220166.5	-	6	584	c.475G>A	c.(475-477)Gga>Aga	p.G159R	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	159					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						AGCATCTTTCCGGTTGCGATG	0.622																																						ENST00000220166.5																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						c.(475-477)Gga>Aga		cathepsin H							73.0	71.0	72.0					15																	79224731		2196	4293	6489	SO:0001583	missense	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79224731C>T	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.475G>A	15.37:g.79224731C>T	ENSP00000220166:p.Gly159Arg					CTSH_ENST00000534533.1_5'UTR	p.G159R	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN			6	584	-			159					B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	ENST00000220166.5	37	c.475G>A	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893569	0.52121	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741	T;T	0.27402	1.67;1.67	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.92219	3.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.72551	-0.4259	10	0.66056	D	0.02	.	13.2051	0.59790	0.0:1.0:0.0:0.0	.	147	E9PBP2	.	R	159;147;83	ENSP00000220166:G159R;ENSP00000435329:G83R	ENSP00000220166:G159R	G	-	1	0	CTSH	77011786	0.999000	0.42202	0.317000	0.25265	0.177000	0.22998	4.443000	0.59994	2.155000	0.67459	0.655000	0.94253	GGA		0.622	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		38	197	0	0	0	1	0	38	197				
ZNF480	147657	broad.mit.edu	37	19	52819145	52819145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52819145G>A	ENST00000595962.1	+	4	324	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Intron|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGGAGCCCTGGTCTGGTGAGA	0.443																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(256-258)tgG>tgA		zinc finger protein 480							77.0	72.0	74.0					19																	52819145		2203	4300	6503	SO:0001587	stop_gained	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52819145G>A	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.258G>A	19.37:g.52819145G>A	ENSP00000471754:p.Trp86*					ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Intron	p.W86*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	4	324	+			86			KRAB.		Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	37	c.258G>A	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172166	0.38315	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000335090	.	.	.	2.03	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5407	0.27737	0.0:0.0:1.0:0.0	.	.	.	.	X	108;86;9	.	ENSP00000335670:W9X	W	+	3	0	ZNF480	57510957	0.041000	0.20044	0.005000	0.12908	0.004000	0.04260	2.735000	0.47377	1.136000	0.42199	0.539000	0.68188	TGG		0.443	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		7	242	0	0	0	1	0	7	242				
C17orf97	400566	broad.mit.edu	37	17	263004	263004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263004C>A	ENST00000360127.6	+	2	386	c.370C>A	c.(370-372)Cct>Act	p.P124T	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	124										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CATCTTAAGTCCTTGCAAAGA	0.517																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(370-372)Cct>Act		chromosome 17 open reading frame 97							124.0	112.0	116.0					17																	263004		2203	4300	6503	SO:0001583	missense	400566							g.chr17:263004C>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.370C>A	17.37:g.263004C>A	ENSP00000353245:p.Pro124Thr					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.P124T	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	386	+			124					A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.370C>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879363	0.33162	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.48201	1.28;0.82	5.02	1.81	0.25067	.	0.568807	0.14858	N	0.294231	T	0.48960	0.1529	L	0.32530	0.975	0.54753	D	0.999982	D	0.76494	0.999	D	0.65323	0.934	T	0.40459	-0.9562	10	0.44086	T	0.13	-10.777	5.2807	0.15674	0.0:0.6416:0.1699:0.1885	.	124	Q6ZQX7-4	.	T	124;118	ENSP00000353245:P124T;ENSP00000419482:P118T	ENSP00000353245:P124T	P	+	1	0	C17orf97	263320	0.000000	0.05858	0.322000	0.25334	0.167000	0.22549	-0.432000	0.06956	0.323000	0.23307	0.655000	0.94253	CCT		0.517	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		36	383	1	0	1.414e-09	1	1.48923e-09	36	383				
TTBK2	146057	broad.mit.edu	37	15	43067457	43067457	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43067457G>T	ENST00000267890.6	-	13	1982	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	625					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCAGTAGGAGGACCCTCTGC	0.483																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1873-1875)cCt>cAt		tau tubulin kinase 2							115.0	111.0	112.0					15																	43067457		1871	4110	5981	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067457G>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1874C>A	15.37:g.43067457G>T	ENSP00000267890:p.Pro625His						p.P625H	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	13	1982	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	625					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1874C>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	7.666	0.685987	0.14973	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.37411	1.2	5.77	5.77	0.91146	.	0.411457	0.25587	N	0.029660	T	0.33962	0.0881	L	0.51422	1.61	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.16289	0.015;0.002	T	0.05666	-1.0871	10	0.39692	T	0.17	.	13.1575	0.59527	0.0:0.16:0.84:0.0	.	556;625	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	H	625;555;1030	ENSP00000267890:P625H	ENSP00000263802:P1030H	P	-	2	0	TTBK2	40854749	1.000000	0.71417	0.999000	0.59377	0.211000	0.24417	1.884000	0.39668	2.726000	0.93360	0.650000	0.86243	CCT		0.483	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		100	491	1	0	1.25848e-56	1	1.57502e-56	100	491				
RNF111	54778	broad.mit.edu	37	15	59344625	59344625	+	Silent	SNP	C	C	T	rs376450850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59344625C>T	ENST00000557998.1	+	3	1289	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	RNF111_ENST00000559209.1_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S|RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000348370.4_Silent_p.S334S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	334	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTGGAGAAAGCTATCGGTGAG	0.313																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1000-1002)agC>agT		ring finger protein 111							101.0	90.0	94.0					15																	59344625		2192	4291	6483	SO:0001819	synonymous_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59344625C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1002C>T	15.37:g.59344625C>T						RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000557998.1_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S|RNF111_ENST00000559209.1_Silent_p.S334S	p.S334S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	3	1435	+			334			Interaction with AXIN1.|Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	c.1002C>T	CCDS58366.1																																																																																				0.313	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		71	271	0	0	0	1	0	71	271				
MMRN2	79812	broad.mit.edu	37	10	88702615	88702615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88702615C>A	ENST00000372027.5	-	6	2247	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	642					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TAGCGGCGTCCTGCAGGGCCA	0.741																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1924-1926)caG>caT		multimerin 2							11.0	11.0	11.0					10																	88702615		2165	4266	6431	SO:0001583	missense	79812					extracellular space		g.chr10:88702615C>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1926G>T	10.37:g.88702615C>A	ENSP00000361097:p.Gln642His						p.Q642H	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1999	-			642					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1926G>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	6.797	0.516103	0.12944	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.15487	2.42	5.24	1.94	0.25998	.	1.250660	0.05698	N	0.593613	T	0.19967	0.0480	L	0.51422	1.61	0.09310	N	0.999997	D;P;P	0.57899	0.981;0.855;0.855	P;B;B	0.45195	0.473;0.359;0.258	T	0.22034	-1.0228	10	0.49607	T	0.09	-6.1725	6.6801	0.23115	0.2805:0.5612:0.0:0.1583	.	420;581;642	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	H	642;420	ENSP00000361097:Q642H	ENSP00000361097:Q642H	Q	-	3	2	MMRN2	88692595	0.000000	0.05858	0.330000	0.25442	0.023000	0.10783	0.287000	0.18920	0.572000	0.29383	-0.391000	0.06502	CAG		0.741	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		5	50	1	0	0.014758	1	0.0148251	5	50				
PIGG	54872	broad.mit.edu	37	4	527709	527709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:527709T>C	ENST00000453061.2	+	12	2780	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	892					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTTTGGGACGTACGCAGGGCC	0.607																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2674-2676)Tac>Cac		phosphatidylinositol glycan anchor biosynthesis, class G							90.0	78.0	82.0					4																	527709		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:527709T>C		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2674T>C	4.37:g.527709T>C	ENSP00000415203:p.Tyr892His					PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H	p.Y892H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			12	2780	+			892					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2674T>C	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552486	0.86127	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.78	5.78	0.91487	.	0.119076	0.64402	D	0.000016	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.74674	0.945;0.963;0.984	T	0.64516	-0.6389	10	0.87932	D	0	-10.8366	14.3442	0.66649	0.0:0.0:0.0:1.0	.	759;892;884	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	884;892;803;759;48	ENSP00000311750:Y884H;ENSP00000415203:Y892H;ENSP00000424800:Y803H;ENSP00000372494:Y759H	ENSP00000311750:Y884H	Y	+	1	0	PIGG	517709	1.000000	0.71417	0.012000	0.15200	0.844000	0.47949	7.431000	0.80335	2.333000	0.79357	0.533000	0.62120	TAC		0.607	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		52	281	0	0	0	1	0	52	281				
CARD8	22900	broad.mit.edu	37	19	48725090	48725090	+	Missense_Mutation	SNP	C	C	T	rs540915752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48725090C>T	ENST00000359009.4	-	7	1052	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000357778.5_Missense_Mutation_p.R78H|CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|CARD8_ENST00000391898.3_Missense_Mutation_p.R353H|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	247					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ACCATGGAAGCGATCTTCCTC	0.428																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(1057-1059)cGc>cAc		caspase recruitment domain family, member 8							67.0	63.0	64.0					19																	48725090		2203	4300	6503	SO:0001583	missense	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48725090C>T	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.740G>A	19.37:g.48725090C>T	ENSP00000351901:p.Arg247His					CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H|CARD8_ENST00000359009.4_Missense_Mutation_p.R247H|CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|CARD8_ENST00000357778.5_Missense_Mutation_p.R78H|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H	p.R353H	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	8	1100	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	247			CARD.		B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37	c.1058G>A		.	.	.	.	.	.	.	.	.	.	C	13.46	2.243606	0.39697	.	.	ENSG00000105483	ENST00000357778;ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	2.3	-4.61	0.03380	.	.	.	.	.	T	0.25865	0.0630	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998;0.998;0.998	P;D;D;P;P;P;P	0.64144	0.864;0.922;0.922;0.872;0.786;0.786;0.783	T	0.15752	-1.0426	9	0.66056	D	0.02	.	5.7338	0.18055	0.0:0.2121:0.1655:0.6223	.	272;353;353;353;303;247;247	B5KVR7;E9PEM7;B5KVR6;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;CARD8_HUMAN	H	78;303;353;247;353;303;353;303;353	ENSP00000350423:R78H;ENSP00000391248:R303H;ENSP00000375767:R353H;ENSP00000351901:R247H;ENSP00000429839:R353H;ENSP00000428736:R303H;ENSP00000430747:R353H;ENSP00000427858:R303H;ENSP00000428883:R353H	ENSP00000350423:R78H	R	-	2	0	CARD8	53416902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.582000	0.05814	-1.532000	0.01747	-0.218000	0.12543	CGC		0.428	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		12	247	0	0	0	1	0	12	247				
NEK11	79858	broad.mit.edu	37	3	130992362	130992362	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130992362A>C	ENST00000510769.1	+	13	1600	c.1347A>C	c.(1345-1347)ccA>ccC	p.P449P	NEK11_ENST00000383366.4_Silent_p.P554P|NEK11_ENST00000508196.1_Silent_p.P554P|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000429253.2_Silent_p.P554P|NEK11_ENST00000412440.2_Silent_p.P370P					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACATGTCCCCAGGACCACCAA	0.483																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1660-1662)ccA>ccC		NIMA-related kinase 11							155.0	117.0	130.0					3																	130992362		2203	4300	6503	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130992362A>C	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1347A>C	3.37:g.130992362A>C						NEK11_ENST00000510769.1_Silent_p.P449P|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000508196.1_Silent_p.P554P|NEK11_ENST00000412440.2_Silent_p.P370P|NEK11_ENST00000429253.2_Silent_p.P554P	p.P554P	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			17	1955	+			554						Silent	SNP	ENST00000510769.1	37	c.1662A>C																																																																																					0.483	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		35	201	0	0	0	1	0	35	201				
REPIN1	29803	broad.mit.edu	37	7	150069954	150069954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150069954G>A	ENST00000425389.2	+	1	1702	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	REPIN1_ENST00000397281.2_Missense_Mutation_p.A542T|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T|RP4-584D14.5_ENST00000488310.1_RNA	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	542					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGGGACGGCGCCTTCTGCTG	0.657																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1624-1626)Gcc>Acc		replication initiator 1							38.0	44.0	42.0					7																	150069954		2187	4292	6479	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069954G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1624G>A	7.37:g.150069954G>A	ENSP00000388287:p.Ala542Thr					REPIN1_ENST00000425389.2_Missense_Mutation_p.A542T|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T|REPIN1_ENST00000479668.1_3'UTR	p.A542T	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	2113	+	Ovarian(565;0.183)|Melanoma(164;0.226)		542					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1624G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373731	0.42105	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.17	3.24	0.37175	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18509	0.0444	N	0.13352	0.335	0.80722	D	1	B;B	0.22146	0.03;0.065	B;B	0.04013	0.001;0.001	T	0.10109	-1.0644	9	0.87932	D	0	-14.6073	11.6665	0.51376	0.0:0.1955:0.8045:0.0	.	599;542	C9J3L7;Q9BWE0	.;REPI1_HUMAN	T	542;542;542;599;542	ENSP00000445016:A542T;ENSP00000380451:A542T;ENSP00000407714:A542T;ENSP00000417291:A599T;ENSP00000388287:A542T	ENSP00000380451:A542T	A	+	1	0	REPIN1	149700887	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	0.903000	0.28475	2.171000	0.68590	0.563000	0.77884	GCC		0.657	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		48	216	0	0	0	1	0	48	216				
CACNA1E	777	broad.mit.edu	37	1	181693609	181693609	+	Missense_Mutation	SNP	C	C	T	rs375559507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693609C>T	ENST00000367573.2	+	17	2078	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	693					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCCAGACACGCTACTGAAT	0.463																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2077-2079)aCg>aTg		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	MET/THR,MET/THR,MET/THR	0,3944		0,0,1972	135.0	124.0	128.0		2078,2078,2078	4.9	0.9	1		128	1,8313		0,1,4156	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	81,81,81	0,1,6128	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging	693/2271,693/2314,693/2252	181693609	1,12257	1972	4157	6129	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181693609C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2078C>T	1.37:g.181693609C>T	ENSP00000356545:p.Thr693Met					CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T693M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M	p.T693M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			17	2243	+			693					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2078C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670172	0.67814	0.0	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.56280	1.765	0.58432	D	0.999997	D;D	0.67145	0.996;0.996	P;P	0.57371	0.819;0.819	D	0.99047	1.0826	10	0.62326	D	0.03	.	17.9496	0.89048	0.0:1.0:0.0:0.0	.	693;693	Q15878-2;Q15878-3	.;.	M	693;693;644;644;300;693;693	ENSP00000356542:T693M;ENSP00000434814:T693M;ENSP00000350183:T644M;ENSP00000351101:T644M;ENSP00000356539:T300M;ENSP00000353222:T693M;ENSP00000356545:T693M	ENSP00000350183:T644M	T	+	2	0	CACNA1E	179960232	1.000000	0.71417	0.878000	0.34440	0.861000	0.49209	5.945000	0.70226	2.390000	0.81377	0.462000	0.41574	ACG		0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		23	79	0	0	0	1	0	23	79				
MICAL2	9645	broad.mit.edu	37	11	12264276	12264276	+	Missense_Mutation	SNP	C	C	T	rs146142372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12264276C>T	ENST00000256194.4	+	20	2903	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V	MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	872					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGGAGAAGGCGGCTCACCTT	0.517																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2614-2616)gCg>gTg		microtubule associated monooxygenase, calponin and LIM domain containing 2		C	VAL/ALA	0,4402		0,0,2201	117.0	117.0	117.0		2615	6.1	1.0	11	dbSNP_134	117	1,8587	1.2+/-3.3	0,1,4293	no	missense	MICAL2	NM_014632.2	64	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	benign	872/1125	12264276	1,12989	2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12264276C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2615C>T	11.37:g.12264276C>T	ENSP00000256194:p.Ala872Val					MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V	p.A872V	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	20	2903	+			872					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2615C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165018	0.94727	0.0	1.16E-4	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.68903	-0.33;-0.36	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.75664	0.3880	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.962	T	0.75147	-0.3420	10	0.52906	T	0.07	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	872;872	G3XAC8;O94851	.;MICA2_HUMAN	V	872	ENSP00000256194:A872V;ENSP00000344894:A872V	ENSP00000256194:A872V	A	+	2	0	MICAL2	12220852	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.311000	0.65786	2.884000	0.98904	0.655000	0.94253	GCG		0.517	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		40	422	0	0	0	1	0	40	422				
LPO	4025	broad.mit.edu	37	17	56343534	56343534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56343534C>T	ENST00000262290.4	+	11	1856	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	LPO_ENST00000582328.1_Missense_Mutation_p.R431W|LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000421678.2_Missense_Mutation_p.R431W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	514			R -> Q (in dbSNP:rs8178401). {ECO:0000269|Ref.3}.		defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCCTCTGGTGCGGGGCCTGCT	0.532																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1540-1542)Cgg>Tgg		lactoperoxidase							54.0	47.0	50.0					17																	56343534		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343534C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1540C>T	17.37:g.56343534C>T	ENSP00000262290:p.Arg514Trp					LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000582328.1_Missense_Mutation_p.R431W|LPO_ENST00000421678.2_Missense_Mutation_p.R431W	p.R514W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			11	1856	+			514		R -> Q (in dbSNP:rs8178401).			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1540C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101119	0.76983	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.70986	-0.53;-0.53;-0.53	6.06	3.95	0.45737	.	0.049849	0.85682	D	0.000000	D	0.88142	0.6357	H	0.95712	3.71	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91681	0.5358	10	0.87932	D	0	-36.0285	14.2005	0.65699	0.2853:0.7147:0.0:0.0	.	431;514	E7EMJ3;P22079	.;PERL_HUMAN	W	514;431;455;259	ENSP00000262290:R514W;ENSP00000400245:R431W;ENSP00000445344:R455W	ENSP00000262290:R514W	R	+	1	2	LPO	53698533	0.039000	0.19947	0.954000	0.39281	0.996000	0.88848	0.408000	0.21065	1.522000	0.49001	0.655000	0.94253	CGG		0.532	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			32	155	0	0	0	1	0	32	155				
ZNF473	25888	broad.mit.edu	37	19	50548036	50548036	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.F112F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000270617.3_Silent_p.F112F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	112					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(334-336)ttC>ttT		zinc finger protein 473							64.0	64.0	64.0					19																	50548036		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548036C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.336C>T	19.37:g.50548036C>T						CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000270617.3_Silent_p.F112F|ZNF473_ENST00000391821.2_Silent_p.F112F	p.F112F			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	831	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	112					A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.336C>T	CCDS33077.1																																																																																				0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		71	257	0	0	0	1	0	71	257				
HAS1	3036	broad.mit.edu	37	19	52217270	52217270	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52217270A>G	ENST00000222115.1	-	5	1181	c.1147T>C	c.(1147-1149)Tac>Cac	p.Y383H	HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H|HAS1_ENST00000540069.2_Missense_Mutation_p.Y382H|HAS1_ENST00000594621.1_Missense_Mutation_p.V212A	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	383					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCACGGAAGTACGACTTGGAC	0.652																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1144-1146)Tac>Cac		hyaluronan synthase 1							53.0	34.0	41.0					19																	52217270		2200	4299	6499	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52217270A>G	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1147T>C	19.37:g.52217270A>G	ENSP00000222115:p.Tyr383His					HAS1_ENST00000594621.1_Missense_Mutation_p.V212A|HAS1_ENST00000222115.1_Missense_Mutation_p.Y383H|HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H	p.Y382H			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1204	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	383					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1144T>C	CCDS12838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.36|15.36	2.811727|2.811727	0.50527|0.50527	.|.	.|.	ENSG00000105509|ENSG00000105509	ENST00000376738|ENST00000540069;ENST00000222115	.|T;T	.|0.59502	.|0.26;0.26	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.67951|0.67951	0.2948|0.2948	M|M	0.63843|0.63843	1.955|1.955	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D;D	.|0.56968	.|0.973;0.978;0.978	.|D;P;P	.|0.63877	.|0.919;0.896;0.896	T|T	0.70687|0.70687	-0.4803|-0.4803	6|10	0.87932|0.87932	D|D	0|0	-29.6232|-29.6232	9.7917|9.7917	0.40710|0.40710	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|382;383;382	.|G3V1S7;Q92839;Q8IYH3	.|.;HAS1_HUMAN;.	A|H	212|382;383	.|ENSP00000445021:Y382H;ENSP00000222115:Y383H	ENSP00000365928:V212A|ENSP00000222115:Y383H	V|Y	-|-	2|1	0|0	HAS1|HAS1	56909082|56909082	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.211000|0.211000	0.24417|0.24417	9.026000|9.026000	0.93700|0.93700	1.480000|1.480000	0.48289|0.48289	0.147000|0.147000	0.16070|0.16070	GTA|TAC		0.652	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		32	117	0	0	0	1	0	32	117				
CDC42BPG	55561	broad.mit.edu	37	11	64607741	64607741	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64607741C>T	ENST00000342711.5	-	5	432		c.e5-1			NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TCACAAGGTACTGGAGGTGGC	0.657																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.e5-1		CDC42 binding protein kinase gamma (DMPK-like)							62.0	52.0	56.0					11																	64607741		2201	4297	6498	SO:0001630	splice_region_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64607741C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.433-1G>A	11.37:g.64607741C>T								NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			5	432	-									Splice_Site	SNP	ENST00000342711.5	37		CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154984	0.78114	.	.	ENSG00000171219	ENST00000342711	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7448	0.85469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC42BPG	64364317	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	7.668000	0.83897	2.621000	0.88768	0.655000	0.94253	.		0.657	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	Intron	47	207	0	0	0	1	0	47	207				
CERS5	91012	broad.mit.edu	37	12	50529583	50529583	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50529583G>T	ENST00000317551.6	-	8	928	c.804C>A	c.(802-804)ctC>ctA	p.L268L	CERS5_ENST00000422340.2_Silent_p.L210L	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	268	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGGTGTCACAGAGCCGCTGAT	0.448																																						ENST00000317551.6																			0											c.(802-804)ctC>ctA		ceramide synthase 5							115.0	107.0	110.0					12																	50529583		2203	4300	6503	SO:0001819	synonymous_variant	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50529583G>T		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.804C>A	12.37:g.50529583G>T						CERS5_ENST00000422340.2_Silent_p.L210L	p.L268L	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			8	928	-			268			TLC.		B4DV54	Silent	SNP	ENST00000317551.6	37	c.804C>A	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.936|8.936	0.964520|0.964520	0.18583|0.18583	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000550919|ENST00000550547;ENST00000547800	D|.	0.85702|.	-2.02|.	4.56|4.56	0.619|0.619	0.17630|0.17630	.|.	0.230343|.	0.36778|.	N|.	0.002416|.	T|T	0.40522|0.40522	0.1120|0.1120	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23404|0.23404	-1.0189|-1.0189	7|4	0.45353|.	T|.	0.12|.	-16.5362|-16.5362	0.9687|0.9687	0.01411|0.01411	0.2263:0.217:0.3521:0.2045|0.2263:0.217:0.3521:0.2045	.|.	.|.	.|.	.|.	M|Y	38|70;172	ENSP00000449311:L38M|.	ENSP00000449311:L38M|.	L|S	-|-	1|2	2|0	CERS5|CERS5	48815850|48815850	0.012000|0.012000	0.17670|0.17670	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	-0.793000|-0.793000	0.04589|0.04589	0.242000|0.242000	0.21303|0.21303	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.448	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		95	422	1	0	6.21051e-42	1	7.55303e-42	95	422				
SP100	6672	broad.mit.edu	37	2	231308927	231308927	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231308927T>C	ENST00000264052.5	+	4	660	c.305T>C	c.(304-306)gTa>gCa	p.V102A	SP100_ENST00000341950.4_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000409897.1_Missense_Mutation_p.V67A|SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	102	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGTCCCTGTACAGAGAGTG	0.398																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(304-306)gTa>gCa		SP100 nuclear antigen							101.0	102.0	102.0					2																	231308927		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231308927T>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.305T>C	2.37:g.231308927T>C	ENSP00000264052:p.Val102Ala					SP100_ENST00000409897.1_Missense_Mutation_p.V67A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A|SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000341950.4_Missense_Mutation_p.V102A	p.V102A	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	4	660	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	102			HSR.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.305T>C	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729837	0.30684	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	3.89	3.89	0.44902	Sp100 (2);	.	.	.	.	D	0.97059	0.9039	M	0.79123	2.44	0.09310	N	0.999999	D;D;D;D;D;D;P;D	0.76494	0.993;0.996;0.995;0.993;0.999;0.979;0.955;0.998	P;D;D;P;D;P;P;D	0.72625	0.907;0.932;0.944;0.775;0.978;0.779;0.858;0.948	D	0.91134	0.4940	9	0.87932	D	0	.	9.3921	0.38378	0.0:0.0:0.0:1.0	.	77;102;67;102;102;102;77;102	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	A	102;77;77;77;102;102;102;102;67	ENSP00000264052:V102A;ENSP00000399389:V77A;ENSP00000391616:V77A;ENSP00000387311:V77A;ENSP00000386404:V102A;ENSP00000386427:V102A;ENSP00000343023:V102A;ENSP00000342729:V102A;ENSP00000386998:V67A	ENSP00000264052:V102A	V	+	2	0	SP100	231017171	0.896000	0.30565	0.350000	0.25708	0.016000	0.09150	2.865000	0.48412	1.997000	0.58415	0.455000	0.32223	GTA		0.398	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		99	474	0	0	0	1	0	99	474				
SCRIB	23513	broad.mit.edu	37	8	144893409	144893409	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144893409C>A	ENST00000320476.3	-	10	1019	c.1013G>T	c.(1012-1014)aGc>aTc	p.S338I	SCRIB_ENST00000356994.2_Missense_Mutation_p.S338I|SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	338	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGAGAGGACGCTGAGTGCCAC	0.672																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1012-1014)aGc>aTc		scribbled planar cell polarity protein							30.0	25.0	27.0					8																	144893409		2200	4296	6496	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893409C>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1013G>T	8.37:g.144893409C>A	ENSP00000322938:p.Ser338Ile					SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I|SCRIB_ENST00000320476.3_Missense_Mutation_p.S338I	p.S338I	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		10	1019	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		338			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1013G>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854506	0.17106	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.52295	2.24;0.67;1.85	3.28	1.39	0.22231	.	.	.	.	.	T	0.31670	0.0804	N	0.20328	0.56	0.32440	N	0.546881	P;P	0.43973	0.725;0.823	B;B	0.43838	0.347;0.433	T	0.43393	-0.9394	9	0.72032	D	0.01	.	4.1911	0.10421	0.0:0.5296:0.2014:0.2691	.	338;338	Q14160;Q14160-3	SCRIB_HUMAN;.	I	338;338;257	ENSP00000349486:S338I;ENSP00000322938:S338I;ENSP00000366756:S257I	ENSP00000322938:S338I	S	-	2	0	SCRIB	144965397	0.998000	0.40836	0.056000	0.19401	0.002000	0.02628	3.038000	0.49783	0.694000	0.31654	-0.302000	0.09304	AGC		0.672	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		19	84	1	0	1.33834e-09	1	1.40959e-09	19	84				
SHD	56961	broad.mit.edu	37	19	4283065	4283065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4283065G>T	ENST00000543264.2	+	3	1881	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	SHD_ENST00000599689.1_Missense_Mutation_p.G140W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	140										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGGCAGAGGGGTGCAGCT	0.617																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(418-420)Ggg>Tgg		Src homology 2 domain containing transforming protein D							47.0	47.0	47.0					19																	4283065		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4283065G>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.418G>T	19.37:g.4283065G>T	ENSP00000446058:p.Gly140Trp					SHD_ENST00000599689.1_Missense_Mutation_p.G140W	p.G140W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1881	+			140					Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.418G>T	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833978	0.50951	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.30714	1.52	4.63	1.06	0.20224	.	0.875466	0.09879	N	0.743981	T	0.33818	0.0876	L	0.40543	1.245	0.09310	N	1	P;P	0.39883	0.693;0.669	P;P	0.48270	0.572;0.572	T	0.32134	-0.9918	10	0.87932	D	0	-5.7012	8.3173	0.32108	0.2958:0.0:0.7042:0.0	.	54;140	Q9NPN8;Q96IW2	.;SHD_HUMAN	W	140;55	ENSP00000446058:G140W	ENSP00000221852:G55W	G	+	1	0	SHD	4234065	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.356000	0.20181	0.189000	0.20188	0.448000	0.29417	GGG		0.617	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		24	232	1	0	1.64293e-13	1	1.77503e-13	24	232				
ZNF296	162979	broad.mit.edu	37	19	45575632	45575632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45575632G>A	ENST00000303809.2	-	3	869	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	219					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTTGCACGGGGGCTCTTGGCC	0.682																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(655-657)Ccc>Tcc		zinc finger protein 296							25.0	27.0	26.0					19																	45575632		2177	4249	6426	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575632G>A	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.655C>T	19.37:g.45575632G>A	ENSP00000302770:p.Pro219Ser						p.P219S	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			3	869	-			219						Missense_Mutation	SNP	ENST00000303809.2	37	c.655C>T	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345298	0.05208	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.05580	3.42	5.51	-8.85	0.00799	.	1.219780	0.05723	N	0.598054	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.42172	-0.9467	10	0.45353	T	0.12	-2.9278	1.5955	0.02663	0.436:0.1057:0.2429:0.2154	.	219	Q8WUU4	ZN296_HUMAN	S	219;195	ENSP00000302770:P219S	ENSP00000302770:P219S	P	-	1	0	ZNF296	50267472	0.926000	0.31397	0.000000	0.03702	0.154000	0.21943	2.041000	0.41213	-1.687000	0.01437	0.650000	0.86243	CCC		0.682	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		108	324	0	0	0	1	0	108	324				
ZSCAN18	65982	broad.mit.edu	37	19	58596628	58596628	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58596628C>T	ENST00000240727.6	-	7	1356	c.957G>A	c.(955-957)tcG>tcA	p.S319S	ZSCAN18_ENST00000421612.2_Silent_p.S183S|ZSCAN18_ENST00000600404.1_Silent_p.S375S|ZSCAN18_ENST00000601144.1_Silent_p.S319S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	319					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGTGGTGCCCGACGGGGGAT	0.741																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(955-957)tcG>tcA		zinc finger and SCAN domain containing 18							9.0	12.0	11.0					19																	58596628		2099	4138	6237	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596628C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.957G>A	19.37:g.58596628C>T						ZSCAN18_ENST00000601144.1_Silent_p.S319S|ZSCAN18_ENST00000600404.1_Silent_p.S375S|ZSCAN18_ENST00000421612.2_Silent_p.S183S	p.S319S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1356	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	319					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.957G>A	CCDS12971.1																																																																																				0.741	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		16	154	0	0	0	1	0	16	154				
UBR4	23352	broad.mit.edu	37	1	19470518	19470518	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19470518C>T	ENST00000375254.3	-	55	8162	c.8135G>A	c.(8134-8136)aGa>aAa	p.R2712K	UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K|UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375267.2_Missense_Mutation_p.R2712K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2712					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTCACATGTCTCCGTTTGTT	0.488																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8134-8136)aGa>aAa		ubiquitin protein ligase E3 component n-recognin 4							250.0	216.0	228.0					1																	19470518		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19470518C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8135G>A	1.37:g.19470518C>T	ENSP00000364403:p.Arg2712Lys					UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K|UBR4_ENST00000375254.3_Missense_Mutation_p.R2712K	p.R2712K			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	55	8138	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2712					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8135G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256004	0.95336	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.59224	1.39;1.38;0.28;1.31	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.49126	1.545	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.67503	-0.5654	10	0.49607	T	0.09	.	19.328	0.94270	0.0:1.0:0.0:0.0	.	2712	Q5T4S7	UBR4_HUMAN	K	2712;2712;2740;2723;355;1433	ENSP00000364403:R2712K;ENSP00000364416:R2712K;ENSP00000364365:R2740K;ENSP00000364374:R2723K	ENSP00000364365:R2740K	R	-	2	0	UBR4	19343105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.798000	0.96311	0.655000	0.94253	AGA		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		60	506	0	0	0	1	0	60	506				
SRP54	6729	broad.mit.edu	37	14	35483956	35483956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35483956G>A	ENST00000556994.1	+	12	1290	c.893G>A	c.(892-894)gGc>gAc	p.G298D	SRP54_ENST00000216774.6_Missense_Mutation_p.G298D|SRP54_ENST00000546080.1_Missense_Mutation_p.G249D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D			P61011	SRP54_HUMAN	signal recognition particle 54kDa	298	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATAGGTATGGGCGACATTGAA	0.328																																						ENST00000556994.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(892-894)gGc>gAc		signal recognition particle 54kDa							130.0	130.0	130.0					14																	35483956		2203	4299	6502	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35483956G>A	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.893G>A	14.37:g.35483956G>A	ENSP00000451818:p.Gly298Asp					SRP54_ENST00000216774.6_Missense_Mutation_p.G298D|SRP54_ENST00000546080.1_Missense_Mutation_p.G249D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D	p.G298D			P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	12	1290	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		298			M-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.893G>A	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181701	0.94885	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.85	5.85	0.93711	Signal recognition particle, SRP54 subunit, M-domain (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91923	0.5549	9	0.87932	D	0	-6.511	20.1606	0.98132	0.0:0.0:1.0:0.0	.	249;298	B4DUW6;P61011	.;SRP54_HUMAN	D	298;298;249;234	.	ENSP00000216774:G298D	G	+	2	0	SRP54	34553707	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.382000	0.97209	2.772000	0.95346	0.650000	0.86243	GGC		0.328	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		72	378	0	0	0	1	0	72	378				
PTPRU	10076	broad.mit.edu	37	1	29638197	29638197	+	Missense_Mutation	SNP	G	G	A	rs374948381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29638197G>A	ENST00000345512.3	+	22	3157	c.3028G>A	c.(3028-3030)Ggg>Agg	p.G1010R	PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1006R	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1010	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1006W(2)|p.G1010W(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGACACCTACGGGGACATCAA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19169	0.0		0.0	False		,,,				2504	0.001					ENST00000373779.3																			3	Substitution - Missense(3)	p.G1006W(2)|p.G1010W(1)	lung(3)	breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2998-3000)Ggg>Agg		protein tyrosine phosphatase, receptor type, U							130.0	115.0	120.0					1																	29638197		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29638197G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3028G>A	1.37:g.29638197G>A	ENSP00000334941:p.Gly1010Arg					PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1006R|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1010R|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R	p.G1000R	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	21	3127	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1010			Tyrosine-protein phosphatase 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2998G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841584	0.91197	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.89353	3.025	0.80722	D	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;1.0;1.0;1.0	T	0.76181	-0.3053	9	.	.	.	.	17.1105	0.86673	0.0:0.0:1.0:0.0	.	997;1006;1000;1006;1010	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	R	1010;1000;1006;1006;997;1006	ENSP00000334941:G1010R;ENSP00000362884:G1000R;ENSP00000349333:G1006R;ENSP00000314987:G1006R;ENSP00000392332:G997R;ENSP00000432906:G1006R	.	G	+	1	0	PTPRU	29510784	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.652000	0.98499	2.592000	0.87571	0.591000	0.81541	GGG		0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			128	536	0	0	0	1	0	128	536				
ZFAT	57623	broad.mit.edu	37	8	135615146	135615146	+	Silent	SNP	A	A	C	rs577530195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135615146A>C	ENST00000377838.3	-	6	990	c.816T>G	c.(814-816)acT>acG	p.T272T	ZFAT_ENST00000520727.1_Silent_p.T260T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Silent_p.T260T|ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT_ENST00000523399.1_Silent_p.T210T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	272					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTATTCACAAGTGAAGATTT	0.478																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(778-780)acT>acG		zinc finger and AT hook domain containing							97.0	97.0	97.0					8																	135615146		1983	4163	6146	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135615146A>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.816T>G	8.37:g.135615146A>C						ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000523399.1_Silent_p.T210T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT_ENST00000377838.3_Silent_p.T272T|ZFAT_ENST00000520214.1_Silent_p.T260T	p.T260T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1079	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		272					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.780T>G	CCDS47924.1																																																																																				0.478	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		83	324	0	0	0	1	0	83	324				
CAPRIN2	65981	broad.mit.edu	37	12	30863426	30863426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30863426G>A	ENST00000395805.2	-	17	3217	c.2670C>T	c.(2668-2670)aaC>aaT	p.N890N	CAPRIN2_ENST00000308433.5_Intron|CAPRIN2_ENST00000251071.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.N945N|CAPRIN2_ENST00000298892.5_Intron	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCAACAGTGAGTTTCTCATAA	0.383																																						ENST00000395805.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2668-2670)aaC>aaT		caprin family member 2							55.0	61.0	59.0					12																	30863426		2187	4292	6479	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30863426G>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2670C>T	12.37:g.30863426G>A						CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000308433.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.N945N|CAPRIN2_ENST00000251071.5_Intron	p.N890N	NM_001206856.1	NP_001193785.1	Q6IMN6	CAPR2_HUMAN			17	3217	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		0						Silent	SNP	ENST00000395805.2	37	c.2670C>T	CCDS55816.1																																																																																				0.383	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		107	469	0	0	0	1	0	107	469				
TAAR2	9287	broad.mit.edu	37	6	132939158	132939158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132939158C>T	ENST00000367931.1	-	2	186	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T|TAAR2_ENST00000275191.2_Missense_Mutation_p.A18T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	63					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATTATCATGGCAAGATTGCCA	0.423																																						ENST00000275191.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(52-54)Gcc>Acc		trace amine associated receptor 2							112.0	107.0	108.0					6																	132939158		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939158C>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.187G>A	6.37:g.132939158C>T	ENSP00000356908:p.Ala63Thr					TAAR2_ENST00000367931.1_Missense_Mutation_p.A63T|TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T	p.A18T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	1	159	-	Breast(56;0.135)		63					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.52G>A	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398649	0.42512	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.71934	-0.61;-0.61;-0.61	5.7	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.422419	0.24506	N	0.037938	T	0.34077	0.0885	N	0.21545	0.675	0.24232	N	0.995398	B	0.17465	0.022	B	0.20955	0.032	T	0.28004	-1.0057	10	0.66056	D	0.02	-11.0516	6.0328	0.19688	0.129:0.6458:0.0:0.2252	.	63	Q9P1P5	TAAR2_HUMAN	T	18;63;18	ENSP00000275191:A18T;ENSP00000356908:A63T;ENSP00000441263:A18T	ENSP00000275191:A18T	A	-	1	0	TAAR2	132980851	0.000000	0.05858	0.771000	0.31576	0.994000	0.84299	-0.038000	0.12144	0.769000	0.33313	0.650000	0.86243	GCC		0.423	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		92	358	0	0	0	1	0	92	358				
JAK3	3718	broad.mit.edu	37	19	17937567	17937567	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937567G>T	ENST00000527670.1	-	23	3389	c.3360C>A	c.(3358-3360)tcC>tcA	p.S1120S	JAK3_ENST00000458235.1_Silent_p.S1120S			P52333	JAK3_HUMAN	Janus kinase 3	1120					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AAAAGGACAGGGAGTGGTGTT	0.617		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(3358-3360)tcC>tcA		Janus kinase 3							173.0	146.0	155.0					19																	17937567		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17937567G>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3360C>A	19.37:g.17937567G>T						JAK3_ENST00000527670.1_Silent_p.S1120S	p.S1120S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			24	3459	-			1120					Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.3360C>A	CCDS12366.1																																																																																				0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		118	582	1	0	7.90946e-78	1	1.01002e-77	118	582				
NOS3	4846	broad.mit.edu	37	7	150696357	150696357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696357C>A	ENST00000484524.1	+	8	1036	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	NOS3_ENST00000461406.1_Missense_Mutation_p.L140M|NOS3_ENST00000467517.1_Missense_Mutation_p.L346M|NOS3_ENST00000297494.3_Missense_Mutation_p.L346M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATTGGGGGCCTGGAGTTCCC	0.637																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1036-1038)Ctg>Atg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						81.0	87.0	85.0					7																	150696357		2201	4296	6497	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150696357C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1036C>A	7.37:g.150696357C>A	ENSP00000420215:p.Leu346Met					NOS3_ENST00000467517.1_Missense_Mutation_p.L346M|NOS3_ENST00000461406.1_Missense_Mutation_p.L140M|NOS3_ENST00000484524.1_Missense_Mutation_p.L346M	p.L346M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1393	+	all_neural(206;0.219)		346			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1036C>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	N	21.1	4.096264	0.76870	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.33216	1.5;1.42;1.5;1.5	5.31	5.31	0.75309	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.44902	D	0.000414	T	0.56156	0.1966	M	0.71920	2.185	0.48087	D	0.99958	P;P;D;D;D	0.89917	0.951;0.951;0.99;1.0;0.999	D;D;D;D;D	0.97110	0.935;0.948;0.978;1.0;0.978	T	0.59563	-0.7431	10	0.87932	D	0	-8.473	16.5106	0.84283	0.0:1.0:0.0:0.0	.	346;346;346;140;346	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	346;140;346;346	ENSP00000297494:L346M;ENSP00000417143:L140M;ENSP00000420215:L346M;ENSP00000420551:L346M	ENSP00000297494:L346M	L	+	1	2	NOS3	150327290	0.993000	0.37304	0.995000	0.50966	0.996000	0.88848	3.120000	0.50430	2.479000	0.83701	0.639000	0.83563	CTG		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		102	670	1	0	2.68873e-43	1	3.28104e-43	102	670				
LRP1B	53353	broad.mit.edu	37	2	141253268	141253268	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141253268A>C	ENST00000389484.3	-	56	9871	c.8900T>G	c.(8899-8901)gTa>gGa	p.V2967G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2967	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCAATGTCTACACATGTTTT	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8899-8901)gTa>gGa		low density lipoprotein receptor-related protein 1B							140.0	125.0	130.0					2																	141253268		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141253268A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8900T>G	2.37:g.141253268A>C	ENSP00000374135:p.Val2967Gly	TSP Lung(27;0.18)					p.V2967G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	56	9871	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2967			EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8900T>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328978	0.60743	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95622	-3.76	5.73	5.73	0.89815	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.174205	0.37623	N	0.002007	D	0.92753	0.7696	N	0.12961	0.28	0.80722	D	1	P	0.51147	0.942	P	0.54759	0.76	D	0.91102	0.4915	10	0.23302	T	0.38	.	11.9202	0.52787	0.9304:0.0:0.0696:0.0	.	2967	Q9NZR2	LRP1B_HUMAN	G	2967;2905	ENSP00000374135:V2967G	ENSP00000374135:V2967G	V	-	2	0	LRP1B	140969738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.195000	0.70347	0.477000	0.44152	GTA		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		71	130	0	0	0	1	0	71	130				
CAND1	55832	broad.mit.edu	37	12	67699732	67699732	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67699732C>A	ENST00000545606.1	+	10	2721	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	762					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTCCAAGCTCTGGTTGTCAC	0.433																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2284-2286)Ctg>Atg		cullin-associated and neddylation-dissociated 1							111.0	111.0	111.0					12																	67699732		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699732C>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2284C>A	12.37:g.67699732C>A	ENSP00000442318:p.Leu762Met						p.L762M	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2721	+			762					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2284C>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116458	0.37339	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.74106	-0.81;-0.81	5.48	2.15	0.27550	Armadillo-like helical (1);Armadillo-type fold (1);	0.069116	0.64402	D	0.000019	D	0.85274	0.5659	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.974	D	0.85583	0.1241	9	.	.	.	-5.4556	11.446	0.50123	0.0:0.7072:0.0:0.2928	.	594;762	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	M	762;762;302	ENSP00000442318:L762M;ENSP00000444089:L302M	.	L	+	1	2	CAND1	65985999	0.951000	0.32395	0.998000	0.56505	0.989000	0.77384	0.608000	0.24223	0.653000	0.30826	0.650000	0.86243	CTG		0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		41	562	1	0	3.61848e-18	1	4.01023e-18	41	562				
MPP6	51678	broad.mit.edu	37	7	24663381	24663381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24663381C>A	ENST00000222644.5	+	2	345	c.95C>A	c.(94-96)cCt>cAt	p.P32H	MPP6_ENST00000396475.2_Missense_Mutation_p.P32H|MPP6_ENST00000409761.1_Intron			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0	Poly-Glu.				maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGGAGAATCCTATTGTAAAA	0.338																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(94-96)cCt>cAt		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							61.0	66.0	64.0					7																	24663381		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24663381C>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.95C>A	7.37:g.24663381C>A	ENSP00000222644:p.Pro32His					MPP6_ENST00000222644.4_Missense_Mutation_p.P32H|MPP6_ENST00000409761.1_Intron	p.P32H	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			3	394	+			32			L27 1.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.95C>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.745140	0.89663	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000396475;ENST00000430180	T;T;T;T	0.15603	2.41;3.47;3.47;2.44	5.47	5.47	0.80525	L27, C-terminal (1);L27 (2);	0.000000	0.53938	D	0.000060	T	0.47377	0.1442	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.46148	-0.9212	10	0.62326	D	0.03	.	19.7166	0.96122	0.0:1.0:0.0:0.0	.	32	Q9NZW5	MPP6_HUMAN	H	32	ENSP00000395859:P32H;ENSP00000222644:P32H;ENSP00000379737:P32H;ENSP00000391020:P32H	ENSP00000222644:P32H	P	+	2	0	MPP6	24629906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.731000	0.93534	0.637000	0.83480	CCT		0.338	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			47	236	1	0	1.38658e-30	1	1.62744e-30	47	236				
PDZK1	5174	broad.mit.edu	37	1	145748564	145748564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145748564G>A	ENST00000344770.2	+	3	510	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D|PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	146	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGCAGCTATGGCTTCTCTCTG	0.522																																						ENST00000344770.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7						c.(436-438)gGc>gAc		PDZ domain containing 1							66.0	71.0	70.0					1																	145748564		2203	4300	6503	SO:0001583	missense	5174				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	g.chr1:145748564G>A	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.437G>A	1.37:g.145748564G>A	ENSP00000342143:p.Gly146Asp					PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D|PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D	p.G146D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		3	510	+	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		146			PDZ 2.		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	ENST00000344770.2	37	c.437G>A	CCDS924.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657044	0.67586	.	.	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000451928;ENST00000344770	T;T;D;T	0.85339	-1.11;-1.11;-1.97;-1.11	5.84	4.93	0.64822	PDZ/DHR/GLGF (4);	0.096016	0.64402	D	0.000001	D	0.92747	0.7694	M	0.93978	3.48	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.99	D	0.94354	0.7582	10	0.87932	D	0	-0.2061	12.6429	0.56718	0.0798:0.0:0.9202:0.0	.	146;146	E7EU02;Q5T2W1	.;NHRF3_HUMAN	D	146	ENSP00000409291:G146D;ENSP00000394485:G146D;ENSP00000403422:G146D;ENSP00000342143:G146D	ENSP00000342143:G146D	G	+	2	0	PDZK1	144459921	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.210000	0.72176	1.485000	0.48380	-0.218000	0.12543	GGC		0.522	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	NM_002614		87	354	0	0	0	1	0	87	354				
PNPLA6	10908	broad.mit.edu	37	19	7619930	7619930	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7619930G>T	ENST00000221249.6	+	25	3103	c.2672G>T	c.(2671-2673)cGc>cTc	p.R891L	PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R929L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R864L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	930					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTCCGCGCCGCCTCTTTTCG	0.726																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2671-2673)cGc>cTc		patatin-like phospholipase domain containing 6							8.0	9.0	9.0					19																	7619930		2170	4253	6423	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619930G>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2672G>T	19.37:g.7619930G>T	ENSP00000221249:p.Arg891Leu					PNPLA6_ENST00000545201.2_Missense_Mutation_p.R864L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R929L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L	p.R891L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			25	3103	+			930					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.2672G>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.799649	0.90538	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.83953	2.67	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.899;0.997	D;D;P;P	0.97110	1.0;1.0;0.648;0.9	T	0.60031	-0.7342	10	0.59425	D	0.04	.	16.613	0.84899	0.0:0.0:1.0:0.0	.	930;864;929;891	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	L	891;864;939;891	ENSP00000221249:R891L;ENSP00000443323:R864L;ENSP00000407509:R939L;ENSP00000394348:R891L	ENSP00000221249:R891L	R	+	2	0	PNPLA6	7525930	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.894000	0.87336	2.523000	0.85059	0.555000	0.69702	CGC		0.726	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		11	88	1	0	5.50884e-06	1	5.65664e-06	11	88				
LOC146880	146880	broad.mit.edu	37	17	62750743	62750743	+	RNA	SNP	G	G	A	rs527316498		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62750743G>A	ENST00000400873.3	-	0	1870					NR_026899.1																						TACCAGTGACGATATTCCCTA	0.448													.|||	1	0.000199681	0.0	0.0014	5008	,	,		4706	0.0		0.0	False		,,,				2504	0.0					ENST00000400873.3																			0																																																			0							g.chr17:62750743G>A																													17.37:g.62750743G>A								NR_026899.1						0	1870	-									RNA	SNP	ENST00000400873.3	37																																																																																						0.448	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				105	586	0	0	0	1	0	105	586				
ADCY5	111	broad.mit.edu	37	3	123051430	123051430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123051430C>T	ENST00000462833.1	-	4	2711	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R133H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	500	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTTGTCAAAGCGGGCGAAGAG	0.632																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1498-1500)cGc>cAc		adenylate cyclase 5							39.0	36.0	37.0					3																	123051430		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123051430C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1499G>A	3.37:g.123051430C>T	ENSP00000419361:p.Arg500His					ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R133H	p.R500H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	4	2711	-			500			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1499G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206509	0.95033	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.77	4.77	0.60923	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.92153	0.7512	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.94048	0.7315	10	0.87932	D	0	.	17.9877	0.89159	0.0:1.0:0.0:0.0	.	500;133	O95622;B3KWA8	ADCY5_HUMAN;.	H	500;133;150;59;59	ENSP00000419361:R500H;ENSP00000418537:R133H;ENSP00000308685:R150H;ENSP00000420082:R59H;ENSP00000420252:R59H	ENSP00000308685:R150H	R	-	2	0	ADCY5	124534120	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.651000	0.83577	2.485000	0.83878	0.484000	0.47621	CGC		0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		29	100	0	0	0	1	0	29	100				
CECR2	27443	broad.mit.edu	37	22	18022369	18022369	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022369C>A	ENST00000400585.2	+	16	2486	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	CECR2_ENST00000400573.5_Missense_Mutation_p.S824Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S825Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	866					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCCTGCAAGTCTGCCGGACAT	0.602																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2473-2475)tCt>tAt		cat eye syndrome chromosome region, candidate 2							61.0	66.0	64.0					22																	18022369		2075	4211	6286	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022369C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2048C>A	22.37:g.18022369C>A	ENSP00000383428:p.Ser683Tyr					CECR2_ENST00000400585.2_Missense_Mutation_p.S683Y|CECR2_ENST00000400573.4_Missense_Mutation_p.S824Y	p.S825Y	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2474	+		all_epithelial(15;0.139)	866					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2474C>A		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555683	0.65425	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32753	1.56;1.54;1.44	5.29	5.29	0.74685	.	0.393815	0.21845	N	0.068264	T	0.46288	0.1385	L	0.60455	1.87	0.30810	N	0.738989	D;D;D	0.61080	0.976;0.989;0.976	P;P;P	0.57283	0.726;0.817;0.726	T	0.51601	-0.8685	10	0.87932	D	0	-8.3622	13.8455	0.63466	0.0:0.8475:0.1525:0.0	.	866;683;824	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	683;824;825	ENSP00000383428:S683Y;ENSP00000383417:S824Y;ENSP00000262608:S825Y	ENSP00000262608:S825Y	S	+	2	0	CECR2	16402369	0.172000	0.23043	0.790000	0.31976	0.879000	0.50718	2.245000	0.43133	2.756000	0.94617	0.561000	0.74099	TCT		0.602	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		16	369	1	0	1.15088e-07	1	1.19614e-07	16	369				
ZNF18	7566	broad.mit.edu	37	17	11896000	11896000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11896000G>T	ENST00000322748.3	-	4	751	c.147C>A	c.(145-147)taC>taA	p.Y49*	ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	49	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACATCACCTGGTAACGGAACT	0.547																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(145-147)taC>taA		zinc finger protein 18							95.0	89.0	91.0					17																	11896000		2203	4300	6503	SO:0001587	stop_gained	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11896000G>T	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.147C>A	17.37:g.11896000G>T	ENSP00000315664:p.Tyr49*					ZNF18_ENST00000580306.1_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000580613.1_5'UTR|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*	p.Y49*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	751	-			49			SCAN box.		Q5QHQ3|Q8IYC4|Q8NAH6	Nonsense_Mutation	SNP	ENST00000322748.3	37	c.147C>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544561	0.96488	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.29	3.31	0.37934	.	0.000000	0.41294	D	0.000901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1966	7.8206	0.29286	0.1889:0.0:0.8111:0.0	.	.	.	.	X	49	.	ENSP00000315664:Y49X	Y	-	3	2	ZNF18	11836725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.417000	0.44653	0.628000	0.30357	0.655000	0.94253	TAC		0.547	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		69	334	1	0	2.26907e-38	1	2.73382e-38	69	334				
TSHZ3	57616	broad.mit.edu	37	19	31770107	31770107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31770107G>A	ENST00000240587.4	-	2	919	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	198					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGCTCTGCCGGTACAGCTGC	0.627																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(592-594)Cgg>Tgg		teashirt zinc finger homeobox 3							58.0	55.0	56.0					19																	31770107		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770107G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.592C>T	19.37:g.31770107G>A	ENSP00000240587:p.Arg198Trp						p.R198W	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	919	-	Esophageal squamous(110;0.226)		198					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.592C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306921	0.60305	.	.	ENSG00000121297	ENST00000240587	T	0.19105	2.17	5.42	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.72479	2.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.44498	-0.9324	10	0.87932	D	0	-21.9214	12.0876	0.53706	0.0:0.0:0.4553:0.5447	.	198	Q63HK5	TSH3_HUMAN	W	198	ENSP00000240587:R198W	ENSP00000240587:R198W	R	-	1	2	TSHZ3	36461947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.263000	0.51546	1.217000	0.43442	0.655000	0.94253	CGG		0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		88	353	0	0	0	1	0	88	353				
SNX33	257364	broad.mit.edu	37	15	75949349	75949349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75949349C>T	ENST00000308527.5	+	2	2715	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	506	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTGACGAGGGCCGCATGGTGC	0.647																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1516-1518)ggC>ggT		sorting nexin 33							56.0	52.0	53.0					15																	75949349		2197	4294	6491	SO:0001819	synonymous_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75949349C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1518C>T	15.37:g.75949349C>T							p.G506G	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			2	2715	+			506			BAR.		B1NM17	Silent	SNP	ENST00000308527.5	37	c.1518C>T	CCDS10283.1																																																																																				0.647	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		44	201	0	0	0	1	0	44	201				
IL17REL	400935	broad.mit.edu	37	22	50439203	50439203	+	Missense_Mutation	SNP	G	G	A	rs143091006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439203G>A	ENST00000389983.2	-	5	463	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	67										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCTGCCGGTGGGAGGCC	0.706													G|||	12	0.00239617	0.0091	0.0	5008	,	,		17096	0.0		0.0	False		,,,				2504	0.0					ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(199-201)Cgg>Tgg		interleukin 17 receptor E-like			TRP/ARG	23,4373		0,23,2175	15.0	18.0	17.0		199	1.1	0.1	22	dbSNP_134	17	0,8582		0,0,4291	yes	missense	IL17REL	NM_001001694.2	101	0,23,6466	AA,AG,GG		0.0,0.5232,0.1772	probably-damaging	67/337	50439203	23,12955	2198	4291	6489	SO:0001583	missense	400935							g.chr22:50439203G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.199C>T	22.37:g.50439203G>A	ENSP00000374633:p.Arg67Trp					IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	p.R67W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	5	463	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	67					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.199C>T	CCDS33679.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	16.01	3.000076	0.54147	0.005232	0.0	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.16073	2.37;2.37	3.36	1.11	0.20524	.	0.440966	0.17529	U	0.170950	T	0.15522	0.0374	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.53861	0.736	T	0.06338	-1.0832	10	0.59425	D	0.04	.	3.456	0.07515	0.141:0.0:0.6043:0.2547	.	67	Q6ZVW7	I17EL_HUMAN	W	67	ENSP00000374633:R67W;ENSP00000342520:R67W	ENSP00000342520:R67W	R	-	1	2	IL17REL	48781330	0.054000	0.20591	0.119000	0.21687	0.081000	0.17604	1.066000	0.30604	0.495000	0.27882	0.651000	0.88453	CGG		0.706	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		8	126	0	0	0	1	0	8	126				
NOTCH4	4855	broad.mit.edu	37	6	32165082	32165082	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32165082G>T	ENST00000375023.3	-	27	5184	c.5046C>A	c.(5044-5046)gtC>gtA	p.V1682V	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Silent_p.V91V	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1682					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAACCTGGCAGACCTCCCGAG	0.602																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5044-5046)gtC>gtA		notch 4							40.0	45.0	43.0					6																	32165082		2201	4300	6501	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32165082G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5046C>A	6.37:g.32165082G>T						NOTCH4_ENST00000443903.2_Silent_p.V91V	p.V1682V	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			27	5184	-			1682					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5046C>A	CCDS34420.1																																																																																				0.602	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			79	345	1	0	1.52589e-26	1	1.75947e-26	79	345				
ARHGAP31	57514	broad.mit.edu	37	3	119084190	119084190	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084190A>C	ENST00000264245.4	+	2	660	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	43	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTGTGCAGAATTTATAGAG	0.358																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(127-129)gAa>gCa		Rho GTPase activating protein 31							99.0	89.0	92.0					3																	119084190		1855	4127	5982	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119084190A>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.128A>C	3.37:g.119084190A>C	ENSP00000264245:p.Glu43Ala						p.E43A	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			2	660	+			43			Rho-GAP.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.128A>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787608	0.49997	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.20200	2.09;2.09	5.65	5.65	0.86999	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.070936	0.53938	D	0.000057	T	0.33876	0.0878	L	0.52126	1.63	0.80722	D	1	P	0.37083	0.581	P	0.49502	0.613	T	0.03212	-1.1060	10	0.51188	T	0.08	.	14.8532	0.70313	1.0:0.0:0.0:0.0	.	43	Q2M1Z3	RHG31_HUMAN	A	43;43;14	ENSP00000264245:E43A;ENSP00000418429:E14A	ENSP00000264245:E43A	E	+	2	0	ARHGAP31	120566880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAA		0.358	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			53	234	0	0	0	1	0	53	234				
INTS1	26173	broad.mit.edu	37	7	1519141	1519141	+	Silent	SNP	G	G	A	rs201592498		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1519141G>A	ENST00000404767.3	-	31	4339	c.4254C>T	c.(4252-4254)ggC>ggT	p.G1418G	INTS1_ENST00000389470.4_Silent_p.G1617G	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1418					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCAGGGCACCGCCGTGTGGGG	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		15110	0.0		0.001	False		,,,				2504	0.0					ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(4849-4851)ggC>ggT		integrator complex subunit 1				1,4225		0,1,2112	10.0	15.0	13.0		4254	-10.0	0.0	7		13	21,8407		0,21,4193	no	coding-synonymous	INTS1	NM_001080453.2		0,22,6305	AA,AG,GG		0.2492,0.0237,0.1739		1418/2191	1519141	22,12632	2113	4214	6327	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1519141G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4254C>T	7.37:g.1519141G>A						INTS1_ENST00000404767.3_Silent_p.G1418G	p.G1617G			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	32	4850	-		Ovarian(82;0.0253)	1418					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.4851C>T	CCDS47526.1																																																																																				0.711	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			7	32	0	0	0	1	0	7	32				
PLXNA1	5361	broad.mit.edu	37	3	126735415	126735415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735415G>A	ENST00000393409.2	+	15	3070	c.3070G>A	c.(3070-3072)Gct>Act	p.A1024T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1001T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1024	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCCTGGCAGCGCTCCCATCAT	0.637																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3001-3003)Gct>Act		plexin A1							102.0	105.0	104.0					3																	126735415		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126735415G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3070G>A	3.37:g.126735415G>A	ENSP00000377061:p.Ala1024Thr					PLXNA1_ENST00000393409.2_Missense_Mutation_p.A1024T	p.A1001T			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	15	3070	+			1024			IPT/TIG 2.			Missense_Mutation	SNP	ENST00000393409.2	37	c.3001G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702763	0.30232	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76448	-1.02;-1.02	3.84	2.96	0.34315	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.400014	0.23164	N	0.051205	T	0.66733	0.2819	L	0.46157	1.445	0.33196	D	0.551453	B	0.15930	0.015	B	0.20184	0.028	T	0.63171	-0.6697	10	0.22706	T	0.39	.	6.7254	0.23353	0.0995:0.0:0.6776:0.2228	.	1024	Q9UIW2	PLXA1_HUMAN	T	1024;1001	ENSP00000377061:A1024T;ENSP00000251772:A1001T	ENSP00000251772:A1001T	A	+	1	0	PLXNA1	128218105	0.863000	0.29885	0.928000	0.36995	0.689000	0.40095	2.159000	0.42339	0.836000	0.34901	-0.339000	0.08088	GCT		0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		80	413	0	0	0	1	0	80	413				
GCN1L1	10985	broad.mit.edu	37	12	120568522	120568522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120568522G>A	ENST00000300648.6	-	56	7611	c.7599C>T	c.(7597-7599)ggC>ggT	p.G2533G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2533					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7597-7599)ggC>ggT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							57.0	60.0	59.0					12																	120568522		1956	4133	6089	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120568522G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7599C>T	12.37:g.120568522G>A							p.G2533G	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			56	7611	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2533					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7599C>T	CCDS41847.1																																																																																				0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			35	209	0	0	0	1	0	35	209				
KCNJ12	3768	broad.mit.edu	37	17	21319300	21319300	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319300G>T	ENST00000583088.1	+	3	1541	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	216					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTGGCGTGTGGGTAACCTGCG	0.642										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(646-648)Ggt>Tgt		potassium inwardly-rectifying channel, subfamily J, member 12							87.0	72.0	77.0					17																	21319300		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319300G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.646G>T	17.37:g.21319300G>T	ENSP00000463778:p.Gly216Cys	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	p.G216C	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1541	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.646G>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383461	0.82792	.	.	ENSG00000184185	ENST00000331718	D	0.95622	-3.76	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97607	0.9216	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98276	1.0506	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	216	Q14500	IRK12_HUMAN	C	216	ENSP00000328150:G216C	ENSP00000328150:G216C	G	+	1	0	KCNJ12	21259893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	GGT		0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		29	305	1	0	4.40665e-25	1	5.05158e-25	29	305				
PDS5A	23244	broad.mit.edu	37	4	39839590	39839590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39839590G>A	ENST00000303538.8	-	32	4435	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACCCACTGCAGCTCTCTTCCT	0.483																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(3895-3897)gCt>gTt		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							98.0	98.0	98.0					4																	39839590		1900	4117	6017	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39839590G>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3896C>T	4.37:g.39839590G>A	ENSP00000303427:p.Ala1299Val						p.A1299V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			32	4435	-			1299						Missense_Mutation	SNP	ENST00000303538.8	37	c.3896C>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705450	0.48412	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.31	3.52	0.40303	.	0.116081	0.56097	D	0.000023	T	0.40067	0.1102	N	0.24115	0.695	0.80722	D	1	P	0.44816	0.844	B	0.44278	0.445	T	0.08289	-1.0729	8	.	.	.	0.0019	10.4171	0.44329	0.073:0.135:0.792:0.0	.	1299	Q29RF7	PDS5A_HUMAN	V	1299	.	.	A	-	2	0	PDS5A	39515985	0.998000	0.40836	0.426000	0.26672	0.005000	0.04900	2.952000	0.49097	0.567000	0.29293	0.655000	0.94253	GCT		0.483	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		47	172	0	0	0	1	0	47	172				
ENOX1	55068	broad.mit.edu	37	13	43935567	43935567	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43935567A>C	ENST00000261488.6	-	6	807	c.230T>G	c.(229-231)tTt>tGt	p.F77C	ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C|ENOX1_ENST00000482207.1_5'Flank	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	77					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTTGGATCAAAGCCTGGGAC	0.433																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(229-231)tTt>tGt		ecto-NOX disulfide-thiol exchanger 1							78.0	85.0	83.0					13																	43935567		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43935567A>C	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.230T>G	13.37:g.43935567A>C	ENSP00000261488:p.Phe77Cys					ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C	p.F77C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	6	807	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	77					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.230T>G	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739477	0.69304	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.50001	0.76;0.76	5.52	5.52	0.82312	.	0.055352	0.64402	D	0.000001	T	0.59500	0.2198	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.63251	-0.6679	10	0.72032	D	0.01	-7.1115	15.6384	0.76973	1.0:0.0:0.0:0.0	.	77	Q8TC92	ENOX1_HUMAN	C	77	ENSP00000261488:F77C;ENSP00000415054:F77C	ENSP00000261488:F77C	F	-	2	0	ENOX1	42833567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.053000	0.76641	2.105000	0.64084	0.533000	0.62120	TTT		0.433	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		47	253	0	0	0	1	0	47	253				
KCNQ4	9132	broad.mit.edu	37	1	41284339	41284339	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41284339A>G	ENST00000347132.5	+	4	777	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	232					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TCAGTGGTCTACGCGCATAGC	0.711																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(694-696)tAc>tGc		potassium voltage-gated channel, KQT-like subfamily, member 4							13.0	13.0	13.0					1																	41284339		2196	4294	6490	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41284339A>G	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.695A>G	1.37:g.41284339A>G	ENSP00000262916:p.Tyr232Cys					KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	777	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	232					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.695A>G	CCDS456.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370694	0.42003	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98493	-4.96;-4.96	5.04	2.66	0.31614	Ion transport (1);	0.229388	0.37623	N	0.002018	D	0.97430	0.9159	L	0.43646	1.37	0.58432	D	0.99999	B;D	0.69078	0.361;0.997	B;D	0.63113	0.275;0.911	D	0.95141	0.8264	10	0.33940	T	0.23	-8.7373	8.8674	0.35294	0.7028:0.0:0.0:0.2972	.	232;232	P56696-2;P56696	.;KCNQ4_HUMAN	C	232	ENSP00000262916:Y232C;ENSP00000423756:Y232C	ENSP00000262916:Y232C	Y	+	2	0	KCNQ4	41056926	1.000000	0.71417	0.950000	0.38849	0.971000	0.66376	5.921000	0.70028	0.359000	0.24239	0.528000	0.53228	TAC		0.711	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		16	63	0	0	0	1	0	16	63				
ASCL4	121549	broad.mit.edu	37	12	108169235	108169235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108169235C>T	ENST00000342331.4	+	1	1074	c.243C>T	c.(241-243)cgC>cgT	p.R81R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	80	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCAACGAGCGCGAGCGGCAGC	0.716																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(241-243)cgC>cgT		achaete-scute family bHLH transcription factor 4							4.0	5.0	5.0					12																	108169235		1904	3809	5713	SO:0001819	synonymous_variant	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169235C>T	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.243C>T	12.37:g.108169235C>T							p.R81R	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1074	+			80					Q7RTS2	Silent	SNP	ENST00000342331.4	37	c.243C>T	CCDS31894.2																																																																																				0.716	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		8	47	0	0	0	1	0	8	47				
IQCF1	132141	broad.mit.edu	37	3	51929102	51929102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51929102C>T	ENST00000310914.5	-	4	484	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	141	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATAGCGTCTGCGGATGCGCCA	0.607																																						ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.(421-423)cGc>cAc		IQ motif containing F1							93.0	85.0	88.0					3																	51929102		2203	4300	6503	SO:0001583	missense	132141							g.chr3:51929102C>T	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.422G>A	3.37:g.51929102C>T	ENSP00000307958:p.Arg141His						p.R141H	NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	484	-			141			IQ 2.		Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	c.422G>A	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174636	0.21704	.	.	ENSG00000173389	ENST00000310914	T	0.65549	-0.16	4.75	2.96	0.34315	.	0.221444	0.32488	N	0.006039	T	0.47893	0.1470	L	0.39147	1.195	0.09310	N	1	B	0.33379	0.41	B	0.30646	0.118	T	0.40887	-0.9539	10	0.49607	T	0.09	-19.5588	7.7834	0.29078	0.0:0.8196:0.0:0.1804	.	141	Q8N6M8	IQCF1_HUMAN	H	141	ENSP00000307958:R141H	ENSP00000307958:R141H	R	-	2	0	IQCF1	51904142	0.121000	0.22262	0.002000	0.10522	0.429000	0.31625	1.466000	0.35310	0.727000	0.32360	0.549000	0.68633	CGC		0.607	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		94	465	0	0	0	1	0	94	465				
MAMDC4	158056	broad.mit.edu	37	9	139752883	139752883	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139752883C>T	ENST00000317446.2	+	22	2756	c.2706C>T	c.(2704-2706)ggC>ggT	p.G902G	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.G981G	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCCTGTGTGGCTGGAGCCACC	0.687																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2941-2943)ggC>ggT		MAM domain containing 4							39.0	47.0	45.0					9																	139752883		2199	4299	6498	SO:0001819	synonymous_variant	158056				protein transport	integral to membrane		g.chr9:139752883C>T	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2706C>T	9.37:g.139752883C>T						MAMDC4_ENST00000317446.2_Silent_p.G902G|MAMDC4_ENST00000485732.1_3'UTR	p.G981G			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	24	2993	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	981			MAM 6.			Silent	SNP	ENST00000317446.2	37	c.2943C>T	CCDS7010.1																																																																																				0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		50	224	0	0	0	1	0	50	224				
TPR	7175	broad.mit.edu	37	1	186330803	186330803	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186330803T>C	ENST00000367478.4	-	9	1205	c.909A>G	c.(907-909)ctA>ctG	p.L303L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	303					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTGCCCGGGTTAGTTCATTGC	0.353			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(907-909)ctA>ctG		translocated promoter region, nuclear basket protein							149.0	138.0	141.0					1																	186330803		1845	4092	5937	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186330803T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.909A>G	1.37:g.186330803T>C						TPR_ENST00000474852.1_5'UTR	p.L303L	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	9	1205	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	303					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.909A>G	CCDS41446.1																																																																																				0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		19	611	0	0	0	1	0	19	611				
ATP6V0D1	9114	broad.mit.edu	37	16	67472759	67472759	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67472759G>A	ENST00000290949.3	-	7	981	c.831C>T	c.(829-831)ctC>ctT	p.L277L	ATP6V0D1_ENST00000602876.1_Silent_p.L200L|ATP6V0D1_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000567694.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	277					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CACCCTCGAAGAGCAGCTTGT	0.602																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(829-831)ctC>ctT		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							101.0	98.0	99.0					16																	67472759		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472759G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.831C>T	16.37:g.67472759G>A						ATP6V0D1_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000602876.1_Silent_p.L200L|ATP6V0D1_ENST00000567694.1_5'UTR	p.L277L	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	7	981	-		Ovarian(137;0.0563)	277					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.831C>T	CCDS10838.1																																																																																				0.602	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		155	663	0	0	0	1	0	155	663				
FAM13A	10144	broad.mit.edu	37	4	89708990	89708990	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89708990T>C	ENST00000264344.5	-	10	1392	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	FAM13A_ENST00000513837.1_Silent_p.G41G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000395002.2_Silent_p.G69G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	395					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGATAGTGTTCCAGATTCTG	0.478																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1183-1185)ggA>ggG		family with sequence similarity 13, member A							112.0	111.0	111.0					4																	89708990		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89708990T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1185A>G	4.37:g.89708990T>C						FAM13A_ENST00000513837.1_Silent_p.G41G|FAM13A_ENST00000395002.2_Silent_p.G69G|FAM13A_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	p.G395G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			10	1392	-			395					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.1185A>G	CCDS34029.1																																																																																				0.478	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			79	324	0	0	0	1	0	79	324				
ZNF574	64763	broad.mit.edu	37	19	42583614	42583614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42583614C>T	ENST00000600245.1	+	2	1511	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGCCATTGGGCGGGATCGCCG	0.637																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(856-858)Cgg>Tgg		zinc finger protein 574							53.0	62.0	59.0					19																	42583614		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583614C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.856C>T	19.37:g.42583614C>T	ENSP00000469029:p.Arg286Trp					ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W	p.R286W			Q6ZN55	ZN574_HUMAN			2	1511	+		Prostate(69;0.059)	286					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.856C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079695	0.55753	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.07327	3.2;3.25	4.96	3.91	0.45181	.	0.323021	0.21335	N	0.076227	T	0.11281	0.0275	N	0.08118	0	0.28114	N	0.930871	D;D	0.89917	0.999;1.0	P;D	0.70935	0.877;0.971	T	0.17501	-1.0367	10	0.35671	T	0.21	-13.0784	11.9409	0.52901	0.3142:0.6858:0.0:0.0	.	286;375	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	W	376;286	ENSP00000222339:R376W;ENSP00000351939:R286W	ENSP00000222339:R376W	R	+	1	2	ZNF574	47275454	0.000000	0.05858	0.730000	0.30809	0.922000	0.55478	0.114000	0.15520	1.258000	0.44101	0.655000	0.94253	CGG		0.637	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		112	467	0	0	0	1	0	112	467				
TTLL1	25809	broad.mit.edu	37	22	43442565	43442565	+	Silent	SNP	C	C	T	rs143499869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442565C>T	ENST00000266254.7	-	10	1233	c.993G>A	c.(991-993)ccG>ccA	p.P331P	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Silent_p.P302P	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	331	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACGTGAGAGACGGGGACGCAT	0.512																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(904-906)ccG>ccA		tubulin tyrosine ligase-like family, member 1		C		0,4406		0,0,2203	271.0	235.0	247.0		993	-3.0	0.4	22	dbSNP_134	247	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TTLL1	NM_012263.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		331/424	43442565	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43442565C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.993G>A	22.37:g.43442565C>T						TTLL1_ENST00000266254.7_Silent_p.P331P|AL022476.2_ENST00000443063.1_RNA	p.P302P			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1146	-		Ovarian(80;0.0694)	331			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.906G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719347	0.15372	0.0	2.33E-4	ENSG00000100271	ENST00000495814	.	.	.	5.54	-2.99	0.05497	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	.	9.4624	0.38792	0.1029:0.5492:0.0:0.3479	.	.	.	.	H	257	.	.	R	-	2	0	TTLL1	41772509	0.000000	0.05858	0.388000	0.26195	0.796000	0.44982	-3.454000	0.00465	-0.266000	0.09339	0.549000	0.68633	CGT		0.512	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		103	399	0	0	0	1	0	103	399				
ZZZ3	26009	broad.mit.edu	37	1	78034018	78034018	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78034018T>G	ENST00000370801.3	-	13	2940	c.2465A>C	c.(2464-2466)aAg>aCg	p.K822T	ZZZ3_ENST00000370798.1_Splice_Site_p.K328T|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	822					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGAACTTACCTTAAAGCCCAC	0.343																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.e13+1		zinc finger, ZZ-type containing 3							77.0	81.0	80.0					1																	78034018		2203	4299	6502	SO:0001630	splice_region_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78034018T>G	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2466+1A>C	1.37:g.78034018T>G						ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Splice_Site_p.K328_splice	p.K822_splice	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			13	2940	-			822					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Splice_Site	SNP	ENST00000370801.3	37	c.2466_splice	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552257	0.86127	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.91407	-2.84;-2.84	5.46	5.46	0.80206	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	L	0.28740	0.885	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.984;0.999	D	0.90468	0.4451	10	0.38643	T	0.18	.	15.8471	0.78901	0.0:0.0:0.0:1.0	.	328;822;821	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	T	822;328	ENSP00000359837:K822T;ENSP00000359834:K328T	ENSP00000359834:K328T	K	-	2	0	ZZZ3	77806606	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.418000	0.80167	2.208000	0.71279	0.528000	0.53228	AAG		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	Missense_Mutation	83	290	0	0	0	1	0	83	290				
CUBN	8029	broad.mit.edu	37	10	17171244	17171244	+	Missense_Mutation	SNP	C	C	T	rs149358798	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17171244C>T	ENST00000377833.4	-	2	193	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	43					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTAGCCATTCGAGGCCTATA	0.348													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		15410	0.0		0.0	False		,,,				2504	0.0					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(127-129)cGa>cAa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	GLN/ARG	9,4395	14.3+/-33.2	0,9,2193	55.0	57.0	56.0		128	5.2	0.9	10	dbSNP_134	56	0,8600		0,0,4300	yes	missense	CUBN	NM_001081.3	43	0,9,6493	TT,TC,CC		0.0,0.2044,0.0692	probably-damaging	43/3624	17171244	9,12995	2202	4300	6502	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17171244C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.128G>A	10.37:g.17171244C>T	ENSP00000367064:p.Arg43Gln					CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	p.R43Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			2	193	-			43					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.128G>A	CCDS7113.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	26.1	4.702199	0.88924	0.002044	0.0	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.91237	-1.26;-2.81	5.23	5.23	0.72850	.	0.000000	0.37261	N	0.002177	D	0.94026	0.8086	M	0.66939	2.045	0.43545	D	0.995849	D	0.89917	1.0	D	0.63957	0.92	D	0.92953	0.6382	10	0.36615	T	0.2	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	43	O60494	CUBN_HUMAN	Q	43	ENSP00000367064:R43Q;ENSP00000367054:R43Q	ENSP00000367054:R43Q	R	-	2	0	CUBN	17211250	0.999000	0.42202	0.871000	0.34182	0.916000	0.54674	5.259000	0.65485	2.598000	0.87819	0.591000	0.81541	CGA		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		11	277	0	0	0	1	0	11	277				
CEP350	9857	broad.mit.edu	37	1	180017679	180017679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180017679G>A	ENST00000367607.3	+	22	5049	c.4631G>A	c.(4630-4632)aGt>aAt	p.S1544N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1544	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAGTAGCAGTGGTAGCAGC	0.348																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4630-4632)aGt>aAt		centrosomal protein 350kDa							88.0	91.0	90.0					1																	180017679		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180017679G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4631G>A	1.37:g.180017679G>A	ENSP00000356579:p.Ser1544Asn						p.S1544N	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			22	5049	+			1544			Ser-rich.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.4631G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237742	0.79800	.	.	ENSG00000135837	ENST00000367607	T	0.57752	0.38	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000090	T	0.61311	0.2337	L	0.29908	0.895	0.80722	D	1	D;P	0.63880	0.993;0.932	D;P	0.70227	0.968;0.476	T	0.57516	-0.7798	9	.	.	.	.	17.271	0.87102	0.0:0.0:1.0:0.0	.	1544;1544	E7EU22;Q5VT06	.;CE350_HUMAN	N	1544	ENSP00000356579:S1544N	.	S	+	2	0	CEP350	178284302	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.413000	0.66399	2.611000	0.88343	0.563000	0.77884	AGT		0.348	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		32	207	0	0	0	1	0	32	207				
OR2T8	343172	broad.mit.edu	37	1	248084330	248084330	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248084330G>T	ENST00000319968.4	+	1	11	c.11G>T	c.(10-12)gGg>gTg	p.G4V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGAAAATGGGAGCTATACC	0.398																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(10-12)gGg>gTg		olfactory receptor, family 2, subfamily T, member 8							100.0	97.0	98.0					1																	248084330		2203	4300	6503	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084330G>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.11G>T	1.37:g.248084330G>T	ENSP00000326225:p.Gly4Val						p.G4V	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	11	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	4						Missense_Mutation	SNP	ENST00000319968.4	37	c.11G>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585667	0.13749	.	.	ENSG00000177462	ENST00000319968	T	0.00346	8.01	3.65	-0.732	0.11147	.	1.218620	0.06205	U	0.683946	T	0.00144	0.0004	N	0.11560	0.145	0.20821	N	0.999847	B	0.17268	0.021	B	0.20767	0.031	T	0.24440	-1.0160	10	0.30854	T	0.27	.	0.4146	0.00447	0.2891:0.1369:0.3199:0.254	.	4	A6NH00	OR2T8_HUMAN	V	4	ENSP00000326225:G4V	ENSP00000326225:G4V	G	+	2	0	OR2T8	246150953	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.014000	0.12656	-0.050000	0.13356	0.603000	0.83216	GGG		0.398	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		110	418	1	0	1.22879e-52	1	1.5289e-52	110	418				
PHYH	5264	broad.mit.edu	37	10	13323092	13323092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13323092C>T	ENST00000263038.4	-	8	905	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	PHYH_ENST00000396913.2_Missense_Mutation_p.A183T|PHYH_ENST00000396920.3_Missense_Mutation_p.A266T	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	283					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCGGCACTGGCGAAATGGCAG	0.418																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(796-798)Gcc>Acc		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						111.0	98.0	103.0					10																	13323092		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13323092C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.847G>A	10.37:g.13323092C>T	ENSP00000263038:p.Ala283Thr					PHYH_ENST00000263038.4_Missense_Mutation_p.A283T|PHYH_ENST00000396913.2_Missense_Mutation_p.A183T	p.A266T			O14832	PAHX_HUMAN			8	1200	-		Ovarian(717;0.0448)	283					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.796G>A	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251918	0.59212	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.90133	-2.62;-2.62;-2.62	5.47	4.57	0.56435	.	0.051774	0.85682	D	0.000000	D	0.94863	0.8340	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65443	0.859;0.935	D	0.94949	0.8098	10	0.54805	T	0.06	-13.5846	14.1998	0.65696	0.0:0.9281:0.0:0.0719	.	266;283	B1ALH6;O14832	.;PAHX_HUMAN	T	183;283;266	ENSP00000380121:A183T;ENSP00000263038:A283T;ENSP00000380126:A266T	ENSP00000263038:A283T	A	-	1	0	PHYH	13363098	1.000000	0.71417	0.011000	0.14972	0.115000	0.19883	4.724000	0.61972	1.331000	0.45412	-0.229000	0.12294	GCC		0.418	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			52	219	0	0	0	1	0	52	219				
DNMT3B	1789	broad.mit.edu	37	20	31387092	31387092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31387092C>T	ENST00000328111.2	+	16	2038	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	573					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCCGAAGGCGGCCCATTCG	0.582																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1717-1719)Cgg>Tgg		DNA (cytosine-5-)-methyltransferase 3 beta							68.0	58.0	61.0					20																	31387092		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31387092C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1717C>T	20.37:g.31387092C>T	ENSP00000328547:p.Arg573Trp					DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W	p.R573W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			16	2038	+			573					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1717C>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238001	0.79800	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.97	2.59	0.31030	.	0.057019	0.64402	D	0.000002	D	0.86615	0.5975	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.987;0.995;0.995;0.998;0.998;0.998;0.977	D	0.88022	0.2769	10	0.87932	D	0	-19.9396	14.2197	0.65818	0.5264:0.4736:0.0:0.0	.	477;511;272;565;553;553;573	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	W	573;553;553;511;477;553;565	ENSP00000328547:R573W;ENSP00000313397:R553W;ENSP00000337764:R553W;ENSP00000403169:R511W;ENSP00000412305:R477W;ENSP00000345105:R553W;ENSP00000201963:R565W	ENSP00000201963:R565W	R	+	1	2	DNMT3B	30850753	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	0.554000	0.23407	0.800000	0.34041	-0.169000	0.13324	CGG		0.582	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		15	82	0	0	0	1	0	15	82				
KRT79	338785	broad.mit.edu	37	12	53224076	53224076	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53224076C>T	ENST00000330553.5	-	3	733	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	233	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCCTCGTACCTGTTACACA	0.572																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e3-1		keratin 79							154.0	119.0	131.0					12																	53224076		2203	4300	6503	SO:0001630	splice_region_variant	338785					keratin filament	structural molecule activity	g.chr12:53224076C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.699-1G>A	12.37:g.53224076C>T							p.K233_splice	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			3	733	-			233			Coil 1B.|Rod.		Q6P465|Q7Z793	Splice_Site	SNP	ENST00000330553.5	37	c.698_splice	CCDS8839.1																																																																																				0.572	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	Silent	67	382	0	0	0	1	0	67	382				
DAAM2	23500	broad.mit.edu	37	6	39855321	39855321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39855321G>A	ENST00000398904.2	+	16	2195	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Silent_p.S671S|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S|RP11-61I13.3_ENST00000607215.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	671	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAGAGCTGTCGGTCATTGATG	0.532																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2011-2013)tcG>tcA		dishevelled associated activator of morphogenesis 2							70.0	75.0	73.0					6																	39855321		1950	4145	6095	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39855321G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2013G>A	6.37:g.39855321G>A						DAAM2_ENST00000398904.2_Silent_p.S671S|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S	p.S671S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			16	2195	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		671			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2013G>A	CCDS56426.1																																																																																				0.532	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			21	90	0	0	0	1	0	21	90				
MYZAP	100820829	broad.mit.edu	37	15	57913875	57913875	+	Nonsense_Mutation	SNP	C	C	T	rs375289402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57913875C>T	ENST00000267853.5	+	4	482	c.388C>T	c.(388-390)Cga>Tga	p.R130*	GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R130*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R130*|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000574161.1_Nonsense_Mutation_p.R130*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R130*			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	130					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											ACAGAAGATTCGACAGCTCAC	0.473																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(388-390)Cga>Tga									136.0	122.0	127.0					15																	57913875		2192	4292	6484	SO:0001587	stop_gained	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57913875C>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.388C>T	15.37:g.57913875C>T	ENSP00000267853:p.Arg130*					GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R130*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R130*|POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R130*	p.R130*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			4	507	+			130					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Nonsense_Mutation	SNP	ENST00000267853.5	37	c.388C>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255429	0.59321	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	.	.	.	5.66	4.68	0.58851	.	0.242441	0.41938	D	0.000792	.	.	.	.	.	.	0.31469	N	0.668644	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-1.2411	8.742	0.34562	0.2593:0.6028:0.138:0.0	.	.	.	.	X	130	.	ENSP00000267853:R130X	R	+	1	2	GCOM1	55701167	0.064000	0.20934	0.931000	0.37212	0.058000	0.15608	1.522000	0.35921	2.827000	0.97445	0.643000	0.83706	CGA		0.473	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		51	251	0	0	0	1	0	51	251				
CCDC101	112869	broad.mit.edu	37	16	28602223	28602223	+	Silent	SNP	C	C	T	rs1053570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28602223C>T	ENST00000317058.3	+	9	919	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	244	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CTACCTGCTTCTACCGCGCCC	0.642																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(730-732)ttC>ttT		coiled-coil domain containing 101							49.0	44.0	46.0					16																	28602223		2197	4300	6497	SO:0001819	synonymous_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28602223C>T	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.732C>T	16.37:g.28602223C>T							p.F244F	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			9	919	+			244			SGF29 C-terminal.		Q96MF5	Silent	SNP	ENST00000317058.3	37	c.732C>T	CCDS10635.1																																																																																				0.642	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		23	108	0	0	0	1	0	23	108				
CHAD	1101	broad.mit.edu	37	17	48546111	48546111	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48546111C>T	ENST00000508540.1	-	1	216	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	22					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGGGGCAGGCGGCCAGCGCC	0.682																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(64-66)Gcc>Acc		chondroadherin							22.0	21.0	21.0					17																	48546111		2203	4299	6502	SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48546111C>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.64G>A	17.37:g.48546111C>T	ENSP00000423812:p.Ala22Thr					ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron	p.A22T	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	216	-	Breast(11;1.93e-18)		22					A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	c.64G>A	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113910	0.56398	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	D;D	0.96745	-4.11;-4.11	4.31	4.31	0.51392	Leucine-rich repeat-containing N-terminal (2);	0.119263	0.56097	D	0.000023	D	0.95408	0.8509	L	0.40543	1.245	0.44643	D	0.997625	D	0.63880	0.993	P	0.53593	0.73	D	0.93851	0.7145	10	0.20519	T	0.43	.	16.9843	0.86336	0.0:1.0:0.0:0.0	.	22	O15335	CHAD_HUMAN	T	22	ENSP00000423812:A22T;ENSP00000258969:A22T	ENSP00000258969:A22T	A	-	1	0	CHAD	45901110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.388000	0.66249	2.232000	0.73038	0.462000	0.41574	GCC		0.682	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		25	76	0	0	0	1	0	25	76				
TBC1D22A	25771	broad.mit.edu	37	22	47393552	47393552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47393552C>A	ENST00000337137.4	+	10	1314	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	383	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTTGCCCAACCTGGGATTCAA	0.453																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(1147-1149)cCt>cAt		TBC1 domain family, member 22A							73.0	74.0	74.0					22																	47393552		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47393552C>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1148C>A	22.37:g.47393552C>A	ENSP00000336724:p.Pro383His					TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H	p.P383H	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	10	1314	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	383			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.1148C>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452041	0.84209	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.66	5.66	0.87406	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.995	T	0.58188	-0.7680	10	0.72032	D	0.01	.	18.3283	0.90260	0.0:1.0:0.0:0.0	.	383;305;324;383	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	383;324;305;336	ENSP00000336724:P383H;ENSP00000384036:P324H;ENSP00000347932:P305H;ENSP00000385634:P336H	ENSP00000336724:P383H	P	+	2	0	TBC1D22A	45772216	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	6.423000	0.73361	2.654000	0.90174	0.650000	0.86243	CCT		0.453	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		68	297	1	0	1.85257e-25	1	2.12574e-25	68	297				
ERF	2077	broad.mit.edu	37	19	42753023	42753023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753023C>A	ENST00000222329.4	-	4	1398	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.G339V|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	414					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGCTAGCGCCCCTGCCCCCTC	0.692																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1240-1242)gGg>gTg		Ets2 repressor factor							31.0	40.0	37.0					19																	42753023		2154	4187	6341	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753023C>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1241G>T	19.37:g.42753023C>A	ENSP00000222329:p.Gly414Val					ERF_ENST00000440177.2_Missense_Mutation_p.G339V|AC006486.9_ENST00000594664.1_Intron	p.G414V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1398	-		Prostate(69;0.00682)	414					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1241G>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	2.385	-0.341122	0.05243	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.19938	3.16;2.11	4.05	1.71	0.24356	.	4.932210	0.00424	N	0.000070	T	0.18882	0.0453	L	0.36672	1.1	0.52501	D	0.999958	B	0.06786	0.001	B	0.04013	0.001	T	0.26710	-1.0095	10	0.32370	T	0.25	.	6.6114	0.22753	0.1758:0.7224:0.0:0.1018	.	414	P50548	ERF_HUMAN	V	414;339	ENSP00000222329:G414V;ENSP00000388173:G339V	ENSP00000222329:G414V	G	-	2	0	ERF	47444863	0.009000	0.17119	0.815000	0.32552	0.439000	0.31926	0.812000	0.27211	1.042000	0.40150	0.609000	0.83330	GGG		0.692	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		187	693	1	0	2.08549e-97	1	2.68121e-97	187	693				
MUS81	80198	broad.mit.edu	37	11	65630597	65630597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65630597A>C	ENST00000308110.4	+	7	1016	c.667A>C	c.(667-669)Agc>Cgc	p.S223R	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.S148R	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	223	Interaction with BLM.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGAAGGCCTGAGCTTGCTGAA	0.622								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(667-669)Agc>Cgc	Homologous recombination	MUS81 structure-specific endonuclease subunit							51.0	52.0	52.0					11																	65630597		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65630597A>C		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.667A>C	11.37:g.65630597A>C	ENSP00000307853:p.Ser223Arg					MUS81_ENST00000533035.1_Missense_Mutation_p.S148R	p.S223R	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	7	1016	+			223			Interaction with BLM.		Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.667A>C	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.51|14.51	2.558063|2.558063	0.45590|0.45590	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.14516	.|2.5;2.72	4.78|4.78	-2.22|-2.22	0.06952|0.06952	.|.	.|0.779640	.|0.13225	.|N	.|0.404068	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.20671	.|0.047	.|B	.|0.24006	.|0.05	T|T	0.41233|0.41233	-0.9520|-0.9520	5|10	.|0.13853	.|T	.|0.58	-7.4028|-7.4028	11.6687|11.6687	0.51389|0.51389	0.3839:0.0:0.6161:0.0|0.3839:0.0:0.6161:0.0	.|.	.|223	.|Q96NY9	.|MUS81_HUMAN	A|R	147;118|148;223;223	.|ENSP00000432287:S148R;ENSP00000307853:S223R	.|ENSP00000307853:S223R	E|S	+|+	2|1	0|0	MUS81|MUS81	65387173|65387173	0.051000|0.051000	0.20477|0.20477	0.039000|0.039000	0.18376|0.18376	0.669000|0.669000	0.39330|0.39330	0.094000|0.094000	0.15107|0.15107	-0.275000|-0.275000	0.09219|0.09219	0.454000|0.454000	0.30748|0.30748	GAG|AGC		0.622	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		26	271	0	0	0	1	0	26	271				
KCNJ12	3768	broad.mit.edu	37	17	21318812	21318812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21318812G>A	ENST00000583088.1	+	3	1053	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	53					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AATGGCCAGTGCAACATTGAG	0.602										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(157-159)tGc>tAc		potassium inwardly-rectifying channel, subfamily J, member 12							181.0	123.0	143.0					17																	21318812		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318812G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.158G>A	17.37:g.21318812G>A	ENSP00000463778:p.Cys53Tyr	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	p.C53Y	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1053	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.158G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267354	0.80469	.	.	ENSG00000184185	ENST00000331718	D	0.95482	-3.72	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99651	1.0991	10	0.87932	D	0	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	53	Q14500	IRK12_HUMAN	Y	53	ENSP00000328150:C53Y	ENSP00000328150:C53Y	C	+	2	0	KCNJ12	21259405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.690000	0.98676	2.506000	0.84524	0.591000	0.81541	TGC		0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		16	332	0	0	0	1	0	16	332				
XIST	7503	broad.mit.edu	37	X	73065089	73065089	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73065089C>T	ENST00000429829.1	-	0	7499					NR_001564.2				X inactive specific transcript (non-protein coding)																		GCTTCCATGTCTATTACACAG	0.502																																						ENST00000429829.1																			0																				126.0	120.0	122.0					X																	73065089		876	1991	2867			0							g.chrX:73065089C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065089C>T								NR_001564.2						0	7499	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.502	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		133	375	0	0	0	1	0	133	375				
STPG2	285555	broad.mit.edu	37	4	99064225	99064225	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99064225T>C	ENST00000295268.3	-	1	166	c.77A>G	c.(76-78)tAc>tGc	p.Y26C		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	26																	AGGTACCTGGTAGGATCCAGG	0.592											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295268.3																			0											c.(76-78)tAc>tGc		sperm-tail PG-rich repeat containing 2							63.0	44.0	50.0					4																	99064225		2203	4300	6503	SO:0001583	missense	285555							g.chr4:99064225T>C	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.77A>G	4.37:g.99064225T>C	ENSP00000295268:p.Tyr26Cys		OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1340		p.Y26C	NM_174952.2	NP_777612.1					1	166	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.77A>G	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084050	0.76642	.	.	ENSG00000163116	ENST00000295268	T	0.60299	0.2	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.75140	0.3809	M	0.78049	2.395	0.42150	D	0.991554	D	0.89917	1.0	D	0.91635	0.999	T	0.78957	-0.1999	10	0.87932	D	0	-7.0612	12.0642	0.53578	0.0:0.0:0.0:1.0	.	26	Q8N412	CD037_HUMAN	C	26	ENSP00000295268:Y26C	ENSP00000295268:Y26C	Y	-	2	0	C4orf37	99283248	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.617000	0.54181	2.105000	0.64084	0.528000	0.53228	TAC		0.592	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		20	91	0	0	0	1	0	20	91				
ABCA2	20	broad.mit.edu	37	9	139907734	139907734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139907734G>A	ENST00000371605.3	-	29	4731	c.4584C>T	c.(4582-4584)ctC>ctT	p.L1528L	ABCA2_ENST00000265662.5_Silent_p.L1529L|ABCA2_ENST00000341511.6_Silent_p.L1529L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1528					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTGCTCACGAGCTGCTGGG	0.736																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(4585-4587)ctC>ctT		ATP-binding cassette, sub-family A (ABC1), member 2							4.0	6.0	6.0					9																	139907734		1634	3662	5296	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139907734G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4584C>T	9.37:g.139907734G>A						ABCA2_ENST00000341511.6_Silent_p.L1529L|ABCA2_ENST00000371605.3_Silent_p.L1528L	p.L1529L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	30	4734	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1528					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4587C>T																																																																																					0.736	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		15	62	0	0	0	1	0	15	62				
TGM7	116179	broad.mit.edu	37	15	43571363	43571363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43571363C>A	ENST00000452443.2	-	11	1795	c.1791G>T	c.(1789-1791)atG>atT	p.M597I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	597					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTAGGACCAGCATGGACCTCC	0.547																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1789-1791)atG>atT		transglutaminase 7	L-Glutamine(DB00130)						99.0	83.0	88.0					15																	43571363		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43571363C>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1791G>T	15.37:g.43571363C>A	ENSP00000389466:p.Met597Ile						p.M597I	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	11	1795	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	597						Missense_Mutation	SNP	ENST00000452443.2	37	c.1791G>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	4.737	0.137116	0.09032	.	.	ENSG00000159495	ENST00000452443	T	0.27557	1.66	5.41	2.18	0.27775	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.464340	0.24645	N	0.036766	T	0.10423	0.0255	N	0.04508	-0.205	0.24677	N	0.99338	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.14252	T	0.57	-12.4081	3.1494	0.06483	0.1786:0.5559:0.1608:0.1046	.	597	Q96PF1	TGM7_HUMAN	I	597	ENSP00000389466:M597I	ENSP00000389466:M597I	M	-	3	0	TGM7	41358655	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	-0.187000	0.09656	0.140000	0.18849	0.650000	0.86243	ATG		0.547	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		32	162	1	0	1.39806e-14	1	1.52044e-14	32	162				
ETAA1	54465	broad.mit.edu	37	2	67630386	67630386	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67630386T>G	ENST00000272342.5	+	5	702	c.572T>G	c.(571-573)cTt>cGt	p.L191R	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	191						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAAGAAGAACTTATGAAACTG	0.264																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(571-573)cTt>cGt		Ewing tumor-associated antigen 1							25.0	30.0	28.0					2																	67630386		2140	4258	6398	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630386T>G	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.572T>G	2.37:g.67630386T>G	ENSP00000272342:p.Leu191Arg					ETAA1_ENST00000462772.1_Intron	p.L191R	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	702	+			191					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.572T>G	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719812	0.68844	.	.	ENSG00000143971	ENST00000272342	T	0.35973	1.28	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.73962	2.25	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	T	0.65154	-0.6237	10	0.87932	D	0	-27.5494	15.9872	0.80168	0.0:0.0:0.0:1.0	.	191	Q9NY74	ETAA1_HUMAN	R	191	ENSP00000272342:L191R	ENSP00000272342:L191R	L	+	2	0	ETAA1	67483890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.783000	0.68982	2.367000	0.80283	0.528000	0.53228	CTT		0.264	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		34	189	0	0	0	1	0	34	189				
DPYD	1806	broad.mit.edu	37	1	97771751	97771751	+	Missense_Mutation	SNP	C	C	T	rs145548112	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97771751C>T	ENST00000370192.3	-	17	2261	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	721					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GCAGCTCTTGCGATGCTCACA	0.458													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18198	0.0		0.0	False		,,,				2504	0.0					ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2161-2163)Gca>Aca		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)	C	THR/ALA	0,4406		0,0,2203	210.0	211.0	211.0		2161	6.1	1.0	1	dbSNP_134	211	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DPYD	NM_000110.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	721/1026	97771751	1,13005	2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771751C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2161G>A	1.37:g.97771751C>T	ENSP00000359211:p.Ala721Thr					DPYD-AS1_ENST00000422980.1_RNA	p.A721T	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2261	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	721					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2161G>A	CCDS30777.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.3	4.622629	0.87460	0.0	1.16E-4	ENSG00000188641	ENST00000370192	T	0.81078	-1.45	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.94092	0.8106	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95223	0.8335	10	0.87932	D	0	-19.2961	20.6721	0.99693	0.0:1.0:0.0:0.0	.	721	Q12882	DPYD_HUMAN	T	721	ENSP00000359211:A721T	ENSP00000359211:A721T	A	-	1	0	DPYD	97544339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.458000	0.80787	2.894000	0.99253	0.591000	0.81541	GCA		0.458	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		210	796	0	0	0	1	0	210	796				
FLVCR1	28982	broad.mit.edu	37	1	213032402	213032402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032402C>T	ENST00000366971.4	+	1	806	c.608C>T	c.(607-609)aCc>aTc	p.T203I	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	203					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTCTGGGTCACCATGTTGGGC	0.642																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(607-609)aCc>aTc		feline leukemia virus subgroup C cellular receptor 1							63.0	52.0	56.0					1																	213032402		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032402C>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.608C>T	1.37:g.213032402C>T	ENSP00000355938:p.Thr203Ile						p.T203I	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	806	+			203					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.608C>T	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.112425|5.112425	0.94339|0.94339	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.56275	.|0.47	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64516|0.64516	0.2605|0.2605	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|P	.|0.51240	.|0.943	.|P	.|0.53722	.|0.733	T|T	0.62388|0.62388	-0.6865|-0.6865	5|10	.|0.07325	.|T	.|0.83	-10.737|-10.737	18.3846|18.3846	0.90463|0.90463	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203	.|Q9Y5Y0	.|FLVC1_HUMAN	S|I	49|203	.|ENSP00000355938:T203I	.|ENSP00000355938:T203I	P|T	+|+	1|2	0|0	FLVCR1|FLVCR1	211099025|211099025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.429000|7.429000	0.80309|0.80309	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.642	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		81	232	0	0	0	1	0	81	232				
IDO2	169355	broad.mit.edu	37	8	39872830	39872830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39872830C>T	ENST00000389060.4	+	10	933	c.933C>T	c.(931-933)atC>atT	p.I311I	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Silent_p.I324I			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	311					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TAGAAGACATCCACTCAGCAC	0.498																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(970-972)atC>atT		indoleamine 2,3-dioxygenase 2							94.0	88.0	90.0					8																	39872830		2019	4181	6200	SO:0001819	synonymous_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39872830C>T	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.933C>T	8.37:g.39872830C>T						IDO2_ENST00000389060.4_Silent_p.I311I|IDO2_ENST00000343295.4_3'UTR	p.I324I	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			11	1214	+			311					A4UD41	Silent	SNP	ENST00000389060.4	37	c.972C>T																																																																																					0.498	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		36	180	0	0	0	1	0	36	180				
TET1	80312	broad.mit.edu	37	10	70426935	70426935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70426935G>A	ENST00000373644.4	+	7	4804	c.4595G>A	c.(4594-4596)cGg>cAg	p.R1532Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1532					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGCCGACCGGCTATACACA	0.488																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(4594-4596)cGg>cAg		tet methylcytosine dioxygenase 1							96.0	79.0	85.0					10																	70426935		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70426935G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4595G>A	10.37:g.70426935G>A	ENSP00000362748:p.Arg1532Gln						p.R1532Q	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			7	4804	+			1532					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4595G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319987	0.23994	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	T	0.22743	1.94	5.21	-1.09	0.09904	TET cysteine-rich domain (1);	0.875458	0.09976	N	0.731632	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.24394	0.053	T	0.16630	-1.0396	10	0.48119	T	0.1	.	7.1581	0.25649	0.3526:0.1771:0.4703:0.0	.	1532	Q8NFU7	TET1_HUMAN	Q	1532;4	ENSP00000362748:R1532Q	ENSP00000362748:R1532Q	R	+	2	0	TET1	70096941	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.202000	0.17295	-0.004000	0.14419	0.585000	0.79938	CGG		0.488	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		39	109	0	0	0	1	0	39	109				
PAFAH2	5051	broad.mit.edu	37	1	26301000	26301000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301000C>T	ENST00000374282.3	-	9	1079	c.900G>A	c.(898-900)caG>caA	p.Q300Q	PAFAH2_ENST00000374284.1_Silent_p.Q300Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	300					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTTCATGCTGGGCACATA	0.468																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(898-900)caG>caA		platelet-activating factor acetylhydrolase 2, 40kDa							116.0	106.0	110.0					1																	26301000		2203	4300	6503	SO:0001819	synonymous_variant	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26301000C>T	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.900G>A	1.37:g.26301000C>T						PAFAH2_ENST00000374284.1_Silent_p.Q300Q	p.Q300Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	9	1079	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	300					D3DPK1|O15458|Q5SY02	Silent	SNP	ENST00000374282.3	37	c.900G>A	CCDS270.1																																																																																				0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		29	181	0	0	0	1	0	29	181				
KALRN	8997	broad.mit.edu	37	3	124413317	124413317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413317A>C	ENST00000291478.5	+	20	2616	c.2453A>C	c.(2452-2454)gAt>gCt	p.D818A	KALRN_ENST00000428018.2_Missense_Mutation_p.D786A|KALRN_ENST00000360013.3_Missense_Mutation_p.D2515A|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2514					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTGACACTGATAACAGCTCA	0.537																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7543-7545)gAt>gCt		kalirin, RhoGEF kinase							148.0	129.0	136.0					3																	124413317		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124413317A>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2453A>C	3.37:g.124413317A>C	ENSP00000291478:p.Asp818Ala					KALRN_ENST00000428018.2_Missense_Mutation_p.D786A|KALRN_ENST00000291478.4_Missense_Mutation_p.D818A	p.D2515A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			53	7671	+			2514			Ig-like C2-type.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.7544A>C	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.529633|4.529633	0.85706|0.85706	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.63255|.	-0.03;0.02;0.0|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.119778|.	0.56097|.	D|.	0.000030|.	T|T	0.46054|0.46054	0.1373|0.1373	N|N	0.16368|0.16368	0.405|0.405	0.34787|0.34787	D|D	0.735332|0.735332	B;B|.	0.25441|.	0.126;0.033|.	B;B|.	0.31946|.	0.138;0.042|.	T|T	0.55366|0.55366	-0.8152|-0.8152	10|5	0.54805|.	T|.	0.06|.	.|.	16.6406|16.6406	0.85098|0.85098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	818;2514|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	A|L	2515;818;786|2484	ENSP00000353109:D2515A;ENSP00000291478:D818A;ENSP00000402419:D786A|.	ENSP00000291478:D818A|.	D|I	+|+	2|1	0|0	KALRN|KALRN	125896007|125896007	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.968000|0.968000	0.65278|0.65278	4.526000|4.526000	0.60566|0.60566	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.537	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		71	383	0	0	0	1	0	71	383				
ATG4D	84971	broad.mit.edu	37	19	10657740	10657740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10657740G>A	ENST00000309469.4	+	4	892	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	240					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGAGCTCAGGCAAGAAGGCA	0.657																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(718-720)gGc>gAc		autophagy related 4D, cysteine peptidase							23.0	22.0	22.0					19																	10657740		2199	4296	6495	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657740G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.719G>A	19.37:g.10657740G>A	ENSP00000311318:p.Gly240Asp					ATG4D_ENST00000540862.1_Intron	p.G240D	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	892	+			240					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.719G>A	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156656	0.94686	.	.	ENSG00000130734	ENST00000309469	T	0.51325	0.71	5.35	5.35	0.76521	.	0.105878	0.64402	D	0.000005	T	0.68696	0.3029	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.994	D;D;D	0.97110	0.951;1.0;0.968	T	0.69131	-0.5226	10	0.48119	T	0.1	-33.1185	17.8112	0.88616	0.0:0.0:1.0:0.0	.	177;263;240	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	D	240	ENSP00000311318:G240D	ENSP00000311318:G240D	G	+	2	0	ATG4D	10518740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.366000	0.73095	2.498000	0.84270	0.561000	0.74099	GGC		0.657	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		10	45	0	0	0	1	0	10	45				
CDH4	1002	broad.mit.edu	37	20	60448855	60448855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60448855C>T	ENST00000360469.5	+	7	1037	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CDH4_ENST00000543233.1_Missense_Mutation_p.R243W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	317	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGTGCGGTACCGGATCGTGAC	0.612																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(949-951)Cgg>Tgg		cadherin 4, type 1, R-cadherin (retinal)							165.0	129.0	141.0					20																	60448855		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448855C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.949C>T	20.37:g.60448855C>T	ENSP00000353656:p.Arg317Trp					CDH4_ENST00000543233.1_Missense_Mutation_p.R243W	p.R317W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1037	+			317			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.949C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093340	0.56075	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54071	0.59;0.59	4.92	2.9	0.33743	Cadherin (4);Cadherin-like (1);	0.055234	0.85682	D	0.000000	T	0.71779	0.3380	M	0.80183	2.485	0.50171	D	0.999858	D	0.89917	1.0	D	0.76575	0.988	T	0.73379	-0.4001	9	.	.	.	.	14.1152	0.65149	0.2429:0.7571:0.0:0.0	.	317	P55283	CADH4_HUMAN	W	317;225;243	ENSP00000353656:R317W;ENSP00000443301:R243W	.	R	+	1	2	CDH4	59882250	1.000000	0.71417	0.947000	0.38551	0.585000	0.36419	1.340000	0.33896	0.435000	0.26365	0.585000	0.79938	CGG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		11	570	0	0	0	1	0	11	570				
RHOBTB2	23221	broad.mit.edu	37	8	22864733	22864733	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864733A>G	ENST00000251822.6	+	5	1512	c.975A>G	c.(973-975)caA>caG	p.Q325Q	RHOBTB2_ENST00000522948.1_Silent_p.Q332Q|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.Q347Q|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	325	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACTCTGATCAAcaccaccacc	0.652																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(973-975)caA>caG		Rho-related BTB domain containing 2							37.0	41.0	40.0					8																	22864733		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864733A>G	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.975A>G	8.37:g.22864733A>G						RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.Q347Q|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.Q332Q	p.Q325Q	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1512	+		Prostate(55;0.0513)|Breast(100;0.214)	325			BTB 1.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.975A>G	CCDS6034.1																																																																																				0.652	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			84	286	0	0	0	1	0	84	286				
AUNIP	79000	broad.mit.edu	37	1	26162173	26162173	+	Missense_Mutation	SNP	C	C	T	rs200152788		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26162173C>T	ENST00000374298.3	-	3	439	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	AUNIP_ENST00000538789.1_Missense_Mutation_p.E129K|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	129					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AGTCCAGCTTCCTGGATGTCT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19274	0.0		0.001	False		,,,				2504	0.0					ENST00000374298.3																			0											c.(385-387)Gaa>Aaa		aurora kinase A and ninein interacting protein							160.0	151.0	154.0					1																	26162173		2203	4300	6503	SO:0001583	missense	79000							g.chr1:26162173C>T		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.385G>A	1.37:g.26162173C>T	ENSP00000363416:p.Glu129Lys					AUNIP_ENST00000538789.1_Missense_Mutation_p.E129K|AUNIP_ENST00000481602.1_Intron	p.E129K	NM_024037.1	NP_076942.1					3	439	-								C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	c.385G>A	CCDS266.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.4	4.409875	0.83340	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.56444	0.46;0.46	5.14	5.14	0.70334	.	0.249755	0.28279	N	0.015927	T	0.53818	0.1820	L	0.34521	1.04	0.39991	D	0.975042	P	0.51351	0.944	P	0.52957	0.714	T	0.56486	-0.7971	10	0.56958	D	0.05	-11.4956	13.9704	0.64237	0.0:1.0:0.0:0.0	.	129	Q9H7T9	CA135_HUMAN	K	129	ENSP00000443647:E129K;ENSP00000363416:E129K	ENSP00000363416:E129K	E	-	1	0	C1orf135	26034760	0.983000	0.35010	0.982000	0.44146	0.955000	0.61496	3.347000	0.52200	2.671000	0.90904	0.585000	0.79938	GAA		0.507	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		80	318	0	0	0	1	0	80	318				
NTN3	4917	broad.mit.edu	37	16	2522741	2522741	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522741A>C	ENST00000293973.1	+	2	1171	c.968A>C	c.(967-969)aAc>aCc	p.N323T	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	323	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGCCGCTTCAACATGGAGCTG	0.697																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(967-969)aAc>aCc		netrin 3							43.0	52.0	49.0					16																	2522741		2158	4249	6407	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522741A>C	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.968A>C	16.37:g.2522741A>C	ENSP00000293973:p.Asn323Thr						p.N323T	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			2	1171	+			323			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000293973.1	37	c.968A>C	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593810	0.46214	.	.	ENSG00000162068	ENST00000293973	T	0.63255	-0.03	4.52	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.82220	-0.0565	10	0.87932	D	0	.	11.8131	0.52194	1.0:0.0:0.0:0.0	.	323	O00634	NET3_HUMAN	T	323	ENSP00000293973:N323T	ENSP00000293973:N323T	N	+	2	0	NTN3	2462742	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.086000	0.94088	1.687000	0.51057	0.254000	0.18369	AAC		0.697	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		57	632	0	0	0	1	0	57	632				
ITPR3	3710	broad.mit.edu	37	6	33630418	33630418	+	Silent	SNP	G	G	A	rs569007497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33630418G>A	ENST00000374316.5	+	9	1885	c.825G>A	c.(823-825)tcG>tcA	p.S275S	ITPR3_ENST00000605930.1_Silent_p.S275S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	275	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTGCCACCTCGGCCACCAGCT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19066	0.0		0.0	False		,,,				2504	0.001					ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(823-825)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 3							67.0	57.0	60.0					6																	33630418		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33630418G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.825G>A	6.37:g.33630418G>A						ITPR3_ENST00000605930.1_Silent_p.S275S	p.S275S			Q14573	ITPR3_HUMAN			9	1885	+			275			MIR 3.		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.825G>A	CCDS4783.1																																																																																				0.617	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		32	164	0	0	0	1	0	32	164				
ARHGAP27	201176	broad.mit.edu	37	17	43482416	43482416	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43482416G>A	ENST00000428638.1	-	3	1121	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000532038.1_Silent_p.D174D|ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000376922.2_Silent_p.D33D|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000532891.2_Silent_p.D374D			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	374					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGGGAGAATAGTCCTCCTCGG	0.627																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(520-522)gaC>gaT		Rho GTPase activating protein 27							46.0	48.0	47.0					17																	43482416		2203	4300	6503	SO:0001819	synonymous_variant	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43482416G>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1122C>T	17.37:g.43482416G>A						ARHGAP27_ENST00000532891.2_Silent_p.D374D|ARHGAP27_ENST00000428638.1_Silent_p.D374D|ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000376922.2_Silent_p.D33D	p.D174D			Q6ZUM4	RHG27_HUMAN			3	657	-	Renal(3;0.0405)		374					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	37	c.522C>T																																																																																					0.627	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		55	222	0	0	0	1	0	55	222				
PCNXL2	80003	broad.mit.edu	37	1	233136192	233136192	+	Silent	SNP	G	G	A	rs377277630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136192G>A	ENST00000258229.9	-	30	5421	c.5187C>T	c.(5185-5187)caC>caT	p.H1729H	PCNXL2_ENST00000344698.2_Silent_p.H381H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1729						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGTCGCCCTCGTGGCAGATGA	0.622																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5185-5187)caC>caT		pecanex-like 2 (Drosophila)		G		1,4069		0,1,2034	63.0	65.0	64.0		5187	-4.8	0.9	1		64	0,8344		0,0,4172	no	coding-synonymous	PCNXL2	NM_014801.3		0,1,6206	AA,AG,GG		0.0,0.0246,0.0081		1729/2138	233136192	1,12413	2035	4172	6207	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233136192G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5187C>T	1.37:g.233136192G>A						PCNXL2_ENST00000344698.2_Silent_p.H381H	p.H1729H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			30	5421	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1729					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.5187C>T	CCDS44335.1																																																																																				0.622	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		52	273	0	0	0	1	0	52	273				
PKHD1L1	93035	broad.mit.edu	37	8	110457518	110457518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110457518T>C	ENST00000378402.5	+	38	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1807	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCTCCCAGTTGGACATCAT	0.453										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5419-5421)gTt>gCt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							122.0	117.0	119.0					8																	110457518		1966	4172	6138	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457518T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5420T>C	8.37:g.110457518T>C	ENSP00000367655:p.Val1807Ala	HNSCC(38;0.096)					p.V1807A	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5524	+			1807			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5420T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	2.733	-0.263898	0.05754	.	.	ENSG00000205038	ENST00000378402	T	0.75050	-0.9	6.03	5.15	0.70609	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.061993	0.64402	N	0.000005	T	0.42223	0.1193	N	0.01228	-0.945	0.34605	D	0.716951	B	0.02656	0.0	B	0.06405	0.002	T	0.50558	-0.8814	10	0.02654	T	1	.	12.3253	0.55007	0.0:0.9171:0.0:0.0829	.	1807	Q86WI1	PKHL1_HUMAN	A	1807	ENSP00000367655:V1807A	ENSP00000367655:V1807A	V	+	2	0	PKHD1L1	110526694	0.999000	0.42202	0.988000	0.46212	0.394000	0.30568	2.764000	0.47613	1.532000	0.49169	-0.242000	0.12053	GTT		0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		83	316	0	0	0	1	0	83	316				
ZNF835	90485	broad.mit.edu	37	19	57175789	57175789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175789G>A	ENST00000537055.2	-	2	1009	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAGGAGAAGCGGAAGGCCTTG	0.672																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(778-780)Cgc>Tgc		zinc finger protein 835							38.0	37.0	37.0					19																	57175789		2203	4300	6503	SO:0001583	missense	90485							g.chr19:57175789G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.778C>T	19.37:g.57175789G>A	ENSP00000444747:p.Arg260Cys						p.R260C	NM_001005850.2	NP_001005850.2					2	1009	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.778C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660667	0.47572	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.08282	3.11	2.12	-0.363	0.12556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	M	0.64997	1.995	0.29926	N	0.82233	P	0.37731	0.607	B	0.36378	0.223	T	0.20571	-1.0271	9	0.66056	D	0.02	.	2.9806	0.05952	0.1528:0.0:0.3618:0.4854	.	282	Q9Y2P0	ZN835_HUMAN	C	282;260	ENSP00000444747:R260C	ENSP00000341756:R282C	R	-	1	0	ZNF835	61867601	0.000000	0.05858	0.912000	0.35992	0.871000	0.50021	-2.109000	0.01335	-0.001000	0.14495	0.561000	0.74099	CGC		0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		22	115	0	0	0	1	0	22	115				
CDH11	1009	broad.mit.edu	37	16	65005935	65005935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65005935C>T	ENST00000268603.4	-	10	2038	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	CDH11_ENST00000566827.1_Missense_Mutation_p.A349T|CDH11_ENST00000394156.3_Missense_Mutation_p.A475T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	475	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCCTAATGGCCACTGGGACT	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1423-1425)Gcc>Acc		cadherin 11, type 2, OB-cadherin (osteoblast)							105.0	91.0	96.0					16																	65005935		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005935C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1423G>A	16.37:g.65005935C>T	ENSP00000268603:p.Ala475Thr	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.A475T|CDH11_ENST00000566827.1_Missense_Mutation_p.A349T	p.A475T			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	10	1876	-		Ovarian(137;0.0973)	475			Cadherin 4.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1423G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887812	0.33348	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.02682	4.2;4.2	5.91	4.95	0.65309	Cadherin (5);Cadherin-like (1);	0.325201	0.36628	N	0.002483	T	0.02380	0.0073	N	0.11673	0.155	0.42665	D	0.99349	B;B	0.23128	0.063;0.08	B;B	0.26864	0.055;0.074	T	0.58584	-0.7611	10	0.22706	T	0.39	.	15.5412	0.76048	0.139:0.8609:0.0:0.0	.	475;475	P55287-2;P55287	.;CAD11_HUMAN	T	475;475;458	ENSP00000268603:A475T;ENSP00000377711:A475T	ENSP00000268603:A475T	A	-	1	0	CDH11	63563436	0.734000	0.28142	1.000000	0.80357	0.992000	0.81027	0.589000	0.23939	1.484000	0.48361	0.655000	0.94253	GCC		0.473	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		28	195	0	0	0	1	0	28	195				
CCL24	6369	broad.mit.edu	37	7	75441154	75441154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75441154C>T	ENST00000416943.1	-	4	413	c.320G>A	c.(319-321)gGc>gAc	p.G107D	CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	107					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						CTGGACAGGGCCCTTGACAGC	0.627																																						ENST00000416943.1																			0				endometrium(1)|lung(2)	3						c.(319-321)gGc>gAc		chemokine (C-C motif) ligand 24							79.0	69.0	73.0					7																	75441154		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75441154C>T	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.320G>A	7.37:g.75441154C>T	ENSP00000400533:p.Gly107Asp					CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	p.G107D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN			4	413	-			107					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.320G>A	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748531	0.15710	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.03889	3.77;3.77	3.62	-4.49	0.03504	Chemokine interleukin-8-like domain (1);	2.562570	0.01641	N	0.024070	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.20384	0.029	T	0.36841	-0.9731	10	0.42905	T	0.14	.	5.6435	0.17577	0.3951:0.1633:0.4416:0.0	.	107	O00175	CCL24_HUMAN	D	107	ENSP00000222902:G107D;ENSP00000400533:G107D	ENSP00000222902:G107D	G	-	2	0	CCL24	75279090	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.177000	0.09796	-0.929000	0.03757	-0.425000	0.05940	GGC		0.627	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		34	237	0	0	0	1	0	34	237				
RBM33	155435	broad.mit.edu	37	7	155556568	155556568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155556568G>A	ENST00000401878.3	+	15	3240	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	RBM33_ENST00000341148.3_5'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1014							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCCAGCCTCCGGAAGTGGGAC	0.657																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(3040-3042)ccG>ccA		RNA binding motif protein 33							14.0	17.0	16.0					7																	155556568		1985	4168	6153	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155556568G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.3042G>A	7.37:g.155556568G>A						RBM33_ENST00000341148.3_5'UTR	p.P1014P	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	15	3240	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	1014					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.3042G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	A	2.515	-0.312011	0.05422	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.91	-3.05	0.05396	.	.	.	.	.	T	0.65984	0.2744	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62416	-0.6859	4	.	.	.	.	15.7905	0.78357	0.4084:0.0:0.5916:0.0	.	.	.	.	Q	787	.	.	R	+	2	0	RBM33	155249329	0.571000	0.26659	0.106000	0.21319	0.233000	0.25261	-0.089000	0.11180	-1.219000	0.02597	-0.982000	0.02568	CGG		0.657	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		15	71	0	0	0	1	0	15	71				
SNHG14	104472715	broad.mit.edu	37	15	25486791	25486791	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25486791G>A	ENST00000453082.2	+	0	2110				SNORD115-38_ENST00000365037.1_RNA|SNORD115-39_ENST00000363694.1_RNA|SNORD115-40_ENST00000606510.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGGTGTACTGAAGCTCCAGC	0.577																																						ENST00000453082.2																			0																																																			0							g.chr15:25486791G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25486791G>A								NR_003343.1						0	2110	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.577	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			52	240	0	0	0	1	0	52	240				
HIVEP3	59269	broad.mit.edu	37	1	42049369	42049369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049369C>T	ENST00000372583.1	-	4	1985	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R367H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	367	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCGCTTAAGCGGAGGGCCAG	0.552																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1099-1101)cGc>cAc		human immunodeficiency virus type I enhancer binding protein 3							90.0	88.0	89.0					1																	42049369		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049369C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1100G>A	1.37:g.42049369C>T	ENSP00000361664:p.Arg367His					HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R367H	p.R367H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2114	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	367			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1100G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110022	0.77210	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.15	5.15	0.70609	.	0.000000	0.48767	D	0.000175	T	0.53932	0.1827	L	0.27053	0.805	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.57717	-0.7763	10	0.72032	D	0.01	-0.0331	18.4234	0.90600	0.0:1.0:0.0:0.0	.	367;367	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	367	ENSP00000361665:R367H;ENSP00000361664:R367H;ENSP00000247584:R367H;ENSP00000410828:R367H	ENSP00000247584:R367H	R	-	2	0	HIVEP3	41821956	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.932000	0.70121	2.689000	0.91719	0.655000	0.94253	CGC		0.552	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		90	337	0	0	0	1	0	90	337				
CLASP2	23122	broad.mit.edu	37	3	33623338	33623338	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33623338A>G	ENST00000468888.2	-	23	2371	c.2325T>C	c.(2323-2325)agT>agC	p.S775S	CLASP2_ENST00000399362.4_Silent_p.S774S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000307312.7_Silent_p.S263S|CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000461133.3_Silent_p.S541S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	541					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCGAACAGGACTTGTGTCTC	0.517																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2320-2322)agT>agC		cytoplasmic linker associated protein 2							120.0	132.0	128.0					3																	33623338		2062	4206	6268	SO:0001819	synonymous_variant	23122							g.chr3:33623338A>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2325T>C	3.37:g.33623338A>G						CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000468888.2_Silent_p.S775S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000307312.7_Silent_p.S263S|CLASP2_ENST00000461133.3_Silent_p.S541S	p.S774S	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			23	2675	-			775					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37	c.2322T>C																																																																																					0.517	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		22	78	0	0	0	1	0	22	78				
ITGA8	8516	broad.mit.edu	37	10	15729956	15729956	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15729956G>T	ENST00000378076.3	-	3	778	c.425C>A	c.(424-426)gCt>gAt	p.A142D		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	142					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCTTTGTGAGCTTTCACTGT	0.428																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(424-426)gCt>gAt		integrin, alpha 8							227.0	193.0	205.0					10																	15729956		2202	4300	6502	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15729956G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.425C>A	10.37:g.15729956G>T	ENSP00000367316:p.Ala142Asp						p.A142D	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			3	778	-			142					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.425C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490544	0.84962	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.85629	-2.01	5.5	5.5	0.81552	.	0.047344	0.85682	D	0.000000	D	0.92080	0.7490	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.937	D	0.92576	0.6070	10	0.87932	D	0	.	19.3886	0.94570	0.0:0.0:1.0:0.0	.	142;142	F5H818;P53708	.;ITA8_HUMAN	D	142	ENSP00000367316:A142D	ENSP00000367316:A142D	A	-	2	0	ITGA8	15769962	1.000000	0.71417	0.838000	0.33150	0.712000	0.41017	9.476000	0.97823	2.583000	0.87209	0.491000	0.48974	GCT		0.428	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		111	450	1	0	2.2287e-75	1	2.84182e-75	111	450				
NCF2	4688	broad.mit.edu	37	1	183532664	183532664	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183532664C>T	ENST00000367535.3	-	12	1334	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000413720.1_Silent_p.T316T	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	361	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TCATGACTACCGTGTACTTGT	0.552																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(946-948)acG>acA		neutrophil cytosolic factor 2							124.0	110.0	114.0					1																	183532664		2203	4300	6503	SO:0001819	synonymous_variant	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532664C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1083G>A	1.37:g.183532664C>T						NCF2_ENST00000367535.3_Silent_p.T361T|NCF2_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000469280.1_5'UTR	p.T316T	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			11	1222	-			361					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	ENST00000367535.3	37	c.948G>A	CCDS1356.1																																																																																				0.552	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		109	590	0	0	0	1	0	109	590				
RPA3	6119	broad.mit.edu	37	7	7679979	7679979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7679979G>A	ENST00000223129.4	-	5	1242	c.71C>T	c.(70-72)cCt>cTt	p.P24L	RPA3_ENST00000396682.2_Missense_Mutation_p.P24L|RPA3_ENST00000401447.1_5'Flank|RPA3_ENST00000406109.1_Intron	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	24					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of cell proliferation (GO:0042127)|regulation of mitotic cell cycle (GO:0007346)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GAAGCAGACAGGCTTGTCGAT	0.597								Direct reversal of damage;Nucleotide excision repair (NER)																													Colon(148;376 1816 25359 26011 31717)	ENST00000223129.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(70-72)cCt>cTt	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A3, 14kDa							116.0	106.0	109.0					7																	7679979		2203	4300	6503	SO:0001583	missense	6119				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding	g.chr7:7679979G>A		CCDS5356.1	7p21.3	2013-09-23	2002-08-29		ENSG00000106399	ENSG00000106399			10291	protein-coding gene	gene with protein product		179837	"""replication protein A3 (14kD)"""			8454588	Standard	NM_002947		Approved	REPA3	uc003sri.3	P35244	OTTHUMG00000023748	ENST00000223129.4:c.71C>T	7.37:g.7679979G>A	ENSP00000223129:p.Pro24Leu					RPA3_ENST00000396682.2_Missense_Mutation_p.P24L|RPA3_ENST00000406109.1_Intron	p.P24L	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)	5	1242	-		Ovarian(82;0.0607)	24					Q549U6	Missense_Mutation	SNP	ENST00000223129.4	37	c.71C>T	CCDS5356.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116445	0.77323	.	.	ENSG00000106399	ENST00000223129;ENST00000396682	.	.	.	5.08	5.08	0.68730	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.100829	0.64402	D	0.000001	T	0.75925	0.3916	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69367	-0.5164	9	0.09590	T	0.72	-3.567	17.7854	0.88536	0.0:0.0:1.0:0.0	.	24	P35244	RFA3_HUMAN	L	24	.	ENSP00000223129:P24L	P	-	2	0	RPA3	7646504	1.000000	0.71417	0.938000	0.37757	0.937000	0.57800	3.764000	0.55264	2.808000	0.96608	0.655000	0.94253	CCT		0.597	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324778.2	NM_002947		109	481	0	0	0	1	0	109	481				
CLEC14A	161198	broad.mit.edu	37	14	38724747	38724747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724747G>A	ENST00000342213.2	-	1	827	c.481C>T	c.(481-483)Cga>Tga	p.R161*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	161	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGGTGGCATCGCATCTCCTTC	0.682																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(481-483)Cga>Tga		C-type lectin domain family 14, member A							41.0	37.0	39.0					14																	38724747		2199	4293	6492	SO:0001587	stop_gained	161198					integral to membrane	sugar binding	g.chr14:38724747G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.481C>T	14.37:g.38724747G>A	ENSP00000353013:p.Arg161*						p.R161*	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	827	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		161			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Nonsense_Mutation	SNP	ENST00000342213.2	37	c.481C>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	39	7.498348	0.98322	.	.	ENSG00000176435	ENST00000342213	.	.	.	3.91	3.0	0.34707	.	0.665335	0.12618	N	0.453257	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4128	10.4834	0.44706	0.0:0.0:0.7906:0.2093	.	.	.	.	X	161	.	ENSP00000353013:R161X	R	-	1	2	CLEC14A	37794498	0.021000	0.18746	0.874000	0.34290	0.844000	0.47949	0.324000	0.19610	1.194000	0.43101	0.591000	0.81541	CGA		0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		8	332	0	0	0	1	0	8	332				
DISP1	84976	broad.mit.edu	37	1	223178953	223178953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178953C>T	ENST00000284476.6	+	8	4378	c.4214C>T	c.(4213-4215)aCg>aTg	p.T1405M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1405					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.T1405M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTACTCAAAACGTGTTGCGAC	0.468																																						ENST00000284476.6																			1	Substitution - Missense(1)	p.T1405M(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4213-4215)aCg>aTg		dispatched homolog 1 (Drosophila)							75.0	77.0	77.0					1																	223178953		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178953C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4214C>T	1.37:g.223178953C>T	ENSP00000284476:p.Thr1405Met						p.T1405M	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4378	+			1405					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4214C>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242354	0.22796	.	.	ENSG00000154309	ENST00000284476	D	0.91577	-2.87	5.95	3.07	0.35406	.	0.792616	0.12004	N	0.508572	T	0.79747	0.4499	N	0.14661	0.345	0.09310	N	1	B	0.28998	0.23	B	0.24974	0.057	T	0.69405	-0.5154	10	0.59425	D	0.04	-8.4933	3.9118	0.09207	0.1214:0.5099:0.2353:0.1335	.	1405	Q96F81	DISP1_HUMAN	M	1405	ENSP00000284476:T1405M	ENSP00000284476:T1405M	T	+	2	0	DISP1	221245576	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	0.189000	0.17037	0.415000	0.25817	-0.119000	0.15052	ACG		0.468	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		10	360	0	0	0	1	0	10	360				
MYH7B	57644	broad.mit.edu	37	20	33565843	33565843	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33565843G>A	ENST00000262873.7	+	3	253	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	12						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGTCTGCCCGCTACCTCCGC	0.607																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(160-162)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							80.0	85.0	83.0					20																	33565843		2184	4281	6465	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33565843G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.161G>A	20.37:g.33565843G>A	ENSP00000262873:p.Arg54His						p.R54H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		3	253	+			12					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.161G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319059	0.41096	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	4.98	1.68	0.24146	.	0.716583	0.11545	N	0.553324	T	0.68155	0.2970	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.58624	-0.7604	10	0.56958	D	0.05	.	5.5154	0.16904	0.2844:0.4509:0.2647:0.0	.	12	A7E2Y1	MYH7B_HUMAN	H	54	ENSP00000262873:R54H	ENSP00000262873:R54H	R	+	2	0	MYH7B	33029504	0.000000	0.05858	0.998000	0.56505	0.917000	0.54804	0.014000	0.13333	0.642000	0.30620	0.655000	0.94253	CGC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		104	458	0	0	0	1	0	104	458				
SLCO1C1	53919	broad.mit.edu	37	12	20890164	20890164	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20890164T>C	ENST00000266509.2	+	11	1874	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	SLCO1C1_ENST00000540354.1_Silent_p.C453C|SLCO1C1_ENST00000381552.1_Silent_p.C502C|SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000545604.1_Silent_p.C502C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	502	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TATCAGCTTGTCTTGCTGGTT	0.388																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1504-1506)tgT>tgC		solute carrier organic anion transporter family, member 1C1							106.0	97.0	100.0					12																	20890164		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20890164T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1506T>C	12.37:g.20890164T>C						SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000545604.1_Silent_p.C502C|SLCO1C1_ENST00000540354.1_Silent_p.C453C|SLCO1C1_ENST00000266509.2_Silent_p.C502C	p.C502C			Q9NYB5	SO1C1_HUMAN			11	1874	+	Esophageal squamous(101;0.149)		502			Kazal-like.		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1506T>C	CCDS8683.1																																																																																				0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		74	316	0	0	0	1	0	74	316				
DSC1	1823	broad.mit.edu	37	18	28710482	28710482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28710482T>G	ENST00000257198.5	-	16	2941	c.2680A>C	c.(2680-2682)Aaa>Caa	p.K894Q	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	894					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CACATTTATTTCTTGATGCAT	0.393																																						ENST00000257198.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2680-2682)Aaa>Caa		desmocollin 1							133.0	129.0	130.0					18																	28710482		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710482T>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2680A>C	18.37:g.28710482T>G	ENSP00000257198:p.Lys894Gln					RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	p.K894Q	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2941	-			894					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2680A>C	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453221	0.43531	.	.	ENSG00000134765	ENST00000257198	T	0.58940	0.3	6.17	0.998	0.19857	.	0.646706	0.14215	N	0.333813	T	0.45054	0.1323	L	0.34521	1.04	0.23156	N	0.998203	B	0.19200	0.034	B	0.24394	0.053	T	0.41998	-0.9477	10	0.56958	D	0.05	.	9.4925	0.38969	0.1086:0.0:0.3923:0.4991	.	894	Q08554	DSC1_HUMAN	Q	894	ENSP00000257198:K894Q	ENSP00000257198:K894Q	K	-	1	0	DSC1	26964480	0.921000	0.31238	0.066000	0.19879	0.158000	0.22134	1.302000	0.33459	0.213000	0.20722	0.533000	0.62120	AAA		0.393	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		130	558	0	0	0	1	0	130	558				
PROC	5624	broad.mit.edu	37	2	128186478	128186478	+	Missense_Mutation	SNP	C	C	T	rs368520760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128186478C>T	ENST00000234071.3	+	9	1429	c.1342C>T	c.(1342-1344)Cac>Tac	p.H448Y	PROC_ENST00000453608.2_Missense_Mutation_p.H503Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000409048.1_Missense_Mutation_p.H482Y	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	448	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GATCCATGGGCACATCAGAGA	0.592																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1507-1509)Cac>Tac		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	C	TYR/HIS	1,4405		0,1,2202	87.0	87.0	87.0		1342	2.2	0.1	2		87	0,8600		0,0,4300	no	missense	PROC	NM_000312.3	83	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	448/462	128186478	1,13005	2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186478C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1342C>T	2.37:g.128186478C>T	ENSP00000234071:p.His448Tyr					PROC_ENST00000409048.1_Missense_Mutation_p.H482Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000234071.3_Missense_Mutation_p.H448Y	p.H503Y			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1515	+	Colorectal(110;0.1)		448					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1507C>T	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.500767	0.00157	2.27E-4	0.0	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	4.95	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.160062	0.30043	N	0.010543	T	0.78541	0.4299	N	0.16833	0.445	0.22081	N	0.999379	B;B;B;B	0.19200	0.034;0.002;0.003;0.002	B;B;B;B	0.15052	0.012;0.002;0.005;0.002	T	0.62511	-0.6839	10	0.02654	T	1	.	4.0811	0.09927	0.2647:0.5:0.0:0.2353	.	503;504;482;448	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	Y	448;407;503;482;448	ENSP00000234071:H448Y;ENSP00000404030:H503Y;ENSP00000386679:H482Y;ENSP00000409543:H448Y	ENSP00000234071:H448Y	H	+	1	0	PROC	127902948	0.020000	0.18652	0.120000	0.21714	0.004000	0.04260	0.079000	0.14782	0.280000	0.22209	0.655000	0.94253	CAC		0.592	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		183	609	0	0	0	1	0	183	609				
TNFRSF10B	8795	broad.mit.edu	37	8	22887129	22887129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22887129C>T	ENST00000276431.4	-	4	754	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCACCCTGTGCGGCACTTCCG	0.592																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(469-471)cGc>cAc		tumor necrosis factor receptor superfamily, member 10b							41.0	35.0	37.0					8																	22887129		2203	4300	6503	SO:0001583	missense	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22887129C>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.470G>A	8.37:g.22887129C>T	ENSP00000276431:p.Arg157His					TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H	p.R157H	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	4	754	-		Prostate(55;0.0421)|Breast(100;0.067)	157					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	c.470G>A	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	9.154	1.017022	0.19355	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.31510	1.49;1.49;1.49	3.65	-4.47	0.03525	TNFR/CD27/30/40/95 cysteine-rich region (3);	3.140280	0.02103	U	0.054152	T	0.16896	0.0406	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.27823	0.006;0.044;0.19;0.185	B;B;B;B	0.09377	0.001;0.002;0.003;0.004	T	0.16571	-1.0398	10	0.48119	T	0.1	.	5.1719	0.15114	0.1396:0.2021:0.5525:0.1057	.	6;157;157;157	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	H	157;157;6	ENSP00000276431:R157H;ENSP00000317859:R157H;ENSP00000443386:R6H	ENSP00000276431:R157H	R	-	2	0	TNFRSF10B	22943074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.993000	0.00656	-0.682000	0.05197	-0.176000	0.13171	CGC		0.592	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		13	64	0	0	0	1	0	13	64				
ZNF318	24149	broad.mit.edu	37	6	43305787	43305787	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305787T>C	ENST00000361428.2	-	10	6026	c.5949A>G	c.(5947-5949)caA>caG	p.Q1983Q	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1983					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGGACATCTTGTAGCTCCA	0.453																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5947-5949)caA>caG		zinc finger protein 318							124.0	123.0	123.0					6																	43305787		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305787T>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5949A>G	6.37:g.43305787T>C						ZNF318_ENST00000318149.3_Intron	p.Q1983Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6026	-			1983					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.5949A>G	CCDS4895.2																																																																																				0.453	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		143	440	0	0	0	1	0	143	440				
AKR1B15	441282	broad.mit.edu	37	7	134252965	134252965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134252965G>A	ENST00000457545.2	+	4	466	c.206G>A	c.(205-207)cGc>cAc	p.R69H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	69							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCAGAATATCGCCACATTGAC	0.443																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(205-207)cGc>cAc		aldo-keto reductase family 1, member B15							103.0	106.0	105.0					7																	134252965		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134252965G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.206G>A	7.37:g.134252965G>A	ENSP00000389289:p.Arg69His					AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	p.R69H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			4	466	+			69					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.206G>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	11.75	1.732917	0.30684	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.28255	1.62;1.62	2.96	1.07	0.20283	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.34279	0.0892	M	0.87758	2.905	0.44754	D	0.99775	B;B;B	0.30281	0.078;0.275;0.058	B;B;B	0.26517	0.013;0.07;0.021	T	0.16129	-1.0413	9	0.62326	D	0.03	.	6.9252	0.24412	0.2502:0.0:0.7498:0.0	.	41;69;41	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	H	69;41	ENSP00000389289:R69H;ENSP00000397009:R41H	ENSP00000397009:R41H	R	+	2	0	AKR1B15	133903505	0.975000	0.34042	0.031000	0.17742	0.060000	0.15804	4.974000	0.63771	0.114000	0.18032	-0.358000	0.07595	CGC		0.443	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			85	353	0	0	0	1	0	85	353				
HHIPL1	84439	broad.mit.edu	37	14	100119107	100119107	+	Missense_Mutation	SNP	G	G	A	rs200138544		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119107G>A	ENST00000330710.5	+	2	900	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	268					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.V268I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAGGCTCTACGTCTACTACTC	0.617																																						ENST00000330710.5																			1	Substitution - Missense(1)	p.V268I(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(802-804)Gtc>Atc		HHIP-like 1							48.0	38.0	41.0					14																	100119107		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100119107G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.802G>A	14.37:g.100119107G>A	ENSP00000330601:p.Val268Ile					HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			2	900	+		Melanoma(154;0.128)	268					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.802G>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.085047	0.55861	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.14266	2.52;2.52	4.59	3.7	0.42460	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.074462	0.53938	N	0.000051	T	0.14614	0.0353	L	0.28344	0.845	0.49389	D	0.999785	D;P	0.57257	0.979;0.831	P;B	0.51895	0.683;0.267	T	0.06373	-1.0830	10	0.20046	T	0.44	.	12.6027	0.56506	0.081:0.0:0.919:0.0	.	268;268	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	I	268	ENSP00000330601:V268I;ENSP00000349757:V268I	ENSP00000330601:V268I	V	+	1	0	HHIPL1	99188860	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.752000	0.74898	0.919000	0.36945	-0.140000	0.14226	GTC		0.617	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		46	157	0	0	0	1	0	46	157				
PCDHGA12	26025	broad.mit.edu	37	5	140812391	140812391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140812391C>A	ENST00000252085.3	+	1	2207	c.2065C>A	c.(2065-2067)Ctc>Atc	p.L689I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	689					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTCAGACCTCACTCTGTA	0.652																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(2065-2067)Ctc>Atc									97.0	109.0	105.0					5																	140812391		2203	4300	6503	SO:0001583	missense	0							g.chr5:140812391C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2065C>A	5.37:g.140812391C>A	ENSP00000252085:p.Leu689Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L689I	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2207	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.2065C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.754532	0.49362	.	.	ENSG00000253159	ENST00000252085	T	0.55234	0.53	5.1	4.22	0.49857	.	.	.	.	.	T	0.62986	0.2473	M	0.75884	2.315	0.21915	N	0.999471	P;P	0.51933	0.949;0.525	P;B	0.50860	0.652;0.333	T	0.56944	-0.7895	9	0.49607	T	0.09	.	13.4403	0.61108	0.0:0.9226:0.0:0.0774	.	689;689	O60330-2;O60330	.;PCDGC_HUMAN	I	689	ENSP00000252085:L689I	ENSP00000252085:L689I	L	+	1	0	PCDHGA12	140792575	.	.	0.073000	0.20177	0.015000	0.08874	.	.	1.261000	0.44149	0.561000	0.74099	CTC		0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		36	1076	1	0	6.90743e-12	1	7.39364e-12	36	1076				
FBXO38	81545	broad.mit.edu	37	5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1070					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(3208-3210)cGa>cAa		F-box protein 38							43.0	47.0	46.0					5																	147820025		2202	4300	6502	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147820025G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3209G>A	5.37:g.147820025G>A	ENSP00000342023:p.Arg1070Gln					FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q	p.R1070Q			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		20	3377	+			1070					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.3209G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.354128	0.95830	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.39787	1.06;1.16;1.13;1.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.32530	0.975	0.32900	D	0.513013	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.947;0.994;0.996	T	0.61898	-0.6968	10	0.48119	T	0.1	-7.3358	18.2978	0.90153	0.0:0.0:1.0:0.0	.	825;995;1070	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	Q	1070;825;995;825	ENSP00000342023:R1070Q;ENSP00000296701:R825Q;ENSP00000377895:R995Q;ENSP00000426410:R825Q	ENSP00000296701:R825Q	R	+	2	0	FBXO38	147800218	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.423000	0.97461	2.670000	0.90874	0.467000	0.42956	CGA		0.353	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		58	246	0	0	0	1	0	58	246				
MS4A1	931	broad.mit.edu	37	11	60234492	60234492	+	Missense_Mutation	SNP	G	G	A	rs148035107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60234492G>A	ENST00000534668.1	+	6	923	c.634G>A	c.(634-636)Gtt>Att	p.V212I	MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	212					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	AGCTGGCATCGTTGAGAATGA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18144	0.0		0.0	False		,,,				2504	0.0					ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(634-636)Gtt>Att		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	G	ILE/VAL,ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	146.0	130.0	135.0		634,634	3.0	0.2	11	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	MS4A1	NM_021950.3,NM_152866.2	29,29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging,possibly-damaging	212/298,212/298	60234492	5,13001	2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60234492G>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.634G>A	11.37:g.60234492G>A	ENSP00000433277:p.Val212Ile					MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I|MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I	p.V212I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			6	923	+			212					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.634G>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706724	0.30232	0.001135	0.0	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.27256	4.33;1.68;4.33;4.33	5.3	3.04	0.35103	.	0.557191	0.17623	N	0.167661	T	0.24699	0.0599	M	0.68317	2.08	0.09310	N	1	B;D;D	0.57571	0.055;0.98;0.98	B;B;B	0.43754	0.011;0.43;0.43	T	0.11792	-1.0573	10	0.27082	T	0.32	-17.187	5.8159	0.18492	0.2652:0.0:0.7348:0.0	.	45;199;212	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	I	212;199;212;45;212	ENSP00000314620:V212I;ENSP00000433519:V199I;ENSP00000433277:V212I;ENSP00000374589:V212I	ENSP00000314620:V212I	V	+	1	0	MS4A1	59991068	0.696000	0.27757	0.172000	0.22920	0.071000	0.16799	2.818000	0.48041	1.387000	0.46486	-0.136000	0.14681	GTT		0.418	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			95	395	0	0	0	1	0	95	395				
EEF2	1938	broad.mit.edu	37	19	3981965	3981965	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3981965T>C	ENST00000309311.6	-	6	965	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	293	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCCAGGATCAGCTGGCAG	0.647																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(877-879)Atc>Gtc		eukaryotic translation elongation factor 2							123.0	118.0	120.0					19																	3981965		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3981965T>C	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.877A>G	19.37:g.3981965T>C	ENSP00000307940:p.Ile293Val						p.I293V	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	6	965	-		Hepatocellular(1079;0.137)	293					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.877A>G	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	T	6.539	0.467734	0.12402	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.76448	-1.02	6.06	6.06	0.98353	Protein synthesis factor, GTP-binding (1);	0.056752	0.85682	D	0.000000	T	0.53045	0.1772	N	0.03903	-0.33	0.48830	D	0.999717	B	0.02656	0.0	B	0.06405	0.002	T	0.53613	-0.8414	10	0.13470	T	0.59	-61.7397	10.1469	0.42769	0.0:0.0737:0.0:0.9263	.	293	P13639	EF2_HUMAN	V	293	ENSP00000307940:I293V	ENSP00000307940:I293V	I	-	1	0	EEF2	3932965	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.109000	0.57824	2.319000	0.78375	0.533000	0.62120	ATC		0.647	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		147	664	0	0	0	1	0	147	664				
ZNF462	58499	broad.mit.edu	37	9	109689673	109689673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689673C>T	ENST00000277225.5	+	3	3769	c.3480C>T	c.(3478-3480)gtC>gtT	p.V1160V	ZNF462_ENST00000457913.1_Silent_p.V1160V|ZNF462_ENST00000441147.2_Silent_p.V5V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1160					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGAGAGGGGTCGAAGGGCCCC	0.552																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3478-3480)gtC>gtT		zinc finger protein 462							66.0	77.0	73.0					9																	109689673		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689673C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3480C>T	9.37:g.109689673C>T						ZNF462_ENST00000457913.1_Silent_p.V1160V|ZNF462_ENST00000441147.2_Silent_p.V5V	p.V1160V			Q96JM2	ZN462_HUMAN			3	3769	+			1160					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3480C>T	CCDS35096.1																																																																																				0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		170	621	0	0	0	1	0	170	621				
SLC22A17	51310	broad.mit.edu	37	14	23821267	23821267	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821267T>C	ENST00000206544.8	-	1	493	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	SLC22A17_ENST00000354772.3_Missense_Mutation_p.T53A|SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	53					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGGTACTGGTGGCGACACGG	0.662																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(157-159)Acc>Gcc		solute carrier family 22, member 17							25.0	21.0	23.0					14																	23821267		2198	4295	6493	SO:0001583	missense	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821267T>C	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.157A>G	14.37:g.23821267T>C	ENSP00000206544:p.Thr53Ala					SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A|SLC22A17_ENST00000206544.8_Missense_Mutation_p.T53A|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_5'UTR	p.T53A	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	660	-	all_cancers(95;7.12e-06)		53					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	c.157A>G	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	T	5.359	0.251576	0.10185	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.54675	0.56;0.56;0.56	2.86	2.86	0.33363	Major facilitator superfamily domain (1);	0.421812	0.19588	U	0.110689	T	0.38746	0.1052	N	0.08118	0	0.29215	N	0.874315	D;P;P	0.56287	0.975;0.732;0.613	P;B;B	0.58130	0.833;0.124;0.058	T	0.22243	-1.0222	10	0.08179	T	0.78	-17.3251	7.5483	0.27781	0.0:0.0:0.0:1.0	.	53;53;53	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	A	53	ENSP00000346824:T53A;ENSP00000206544:T53A;ENSP00000380437:T53A	ENSP00000206544:T53A	T	-	1	0	SLC22A17	22891107	0.862000	0.29867	0.996000	0.52242	0.985000	0.73830	0.351000	0.20096	1.557000	0.49525	0.379000	0.24179	ACC		0.662	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		19	77	0	0	0	1	0	19	77				
TTLL8	164714	broad.mit.edu	37	22	50479664	50479664	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50479664G>T	ENST00000266182.6	-	8	872	c.873C>A	c.(871-873)atC>atA	p.I291I	TTLL8_ENST00000440475.1_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	318	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TAACCTTCTGGATTTTGAAGA	0.552																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(871-873)atC>atA		tubulin tyrosine ligase-like family, member 8							149.0	160.0	156.0					22																	50479664		1955	4149	6104	SO:0001819	synonymous_variant	164714							g.chr22:50479664G>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.873C>A	22.37:g.50479664G>T						TTLL8_ENST00000440475.1_Intron	p.I291I						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	8	872	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.873C>A																																																																																					0.552	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		120	532	1	0	9.79165e-58	1	1.22661e-57	120	532				
S100A13	6284	broad.mit.edu	37	1	153598820	153598820	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153598820G>A	ENST00000392623.1	-	2	319	c.129C>T	c.(127-129)acC>acT	p.T43T	S100A1_ENST00000292169.1_5'Flank|S100A13_ENST00000440685.2_Silent_p.T43T|S100A13_ENST00000339556.4_Silent_p.T43T|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000392622.1_Silent_p.T43T|S100A1_ENST00000368696.3_5'Flank|S100A1_ENST00000368698.3_5'Flank|S100A13_ENST00000368699.1_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	43	EF-hand.				cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCAACTGCTGGGTAACCAGCT	0.527																																					NSCLC(156;1296 1989 17590 30930 49554)	ENST00000368699.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7						c.(127-129)acC>acT		S100 calcium binding protein A13	Amlexanox(DB01025)						223.0	216.0	218.0					1																	153598820		2203	4300	6503	SO:0001819	synonymous_variant	6284				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	g.chr1:153598820G>A	AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171		"""S100 calcium binding proteins"""	10490	protein-coding gene	gene with protein product		601989	"""S100 calcium-binding protein A13"""			8985590	Standard	XM_005245434		Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.129C>T	1.37:g.153598820G>A						S100A13_ENST00000440685.2_Silent_p.T43T|S100A13_ENST00000392622.1_Silent_p.T43T|S100A13_ENST00000392623.1_Silent_p.T43T|S100A13_ENST00000339556.4_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR|RP1-178F15.5_ENST00000497086.1_RNA	p.T43T	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	632	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		43			EF-hand 1.		Q52PI9|Q6FGF8	Silent	SNP	ENST00000392623.1	37	c.129C>T	CCDS30874.1																																																																																				0.527	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	NM_005979		235	1139	0	0	0	1	0	235	1139				
ELMOD1	55531	broad.mit.edu	37	11	107462633	107462633	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107462633C>A	ENST00000265840.7	+	1	180				ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000531234.1_Intron|AP000889.3_ENST00000600612.1_Missense_Mutation_p.S50R	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GCGCAGCGAGCTGGGAGGAGC	0.662																																						ENST00000600612.1																			0											c.(148-150)agC>agA									13.0	15.0	14.0					11																	107462633		1905	4113	6018	SO:0001627	intron_variant	0							g.chr11:107462633C>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+498C>A	11.37:g.107462633C>A						ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000531234.1_Intron	p.S50R							1	163	+								B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.150C>A	CCDS44723.1																																																																																				0.662	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		9	39	1	0	7.48243e-07	1	7.73841e-07	9	39				
PMS2P3	5387	broad.mit.edu	37	7	75140406	75140406	+	RNA	SNP	C	C	T	rs146002309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75140406C>T	ENST00000418756.1	-	0	1221				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						CAACCTTCACCGACGCGTGGC	0.537																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1										C		0,4406		0,0,2203	121.0	112.0	115.0				0.2	7	dbSNP_134	115	1,8599		0,1,4299	no	intergenic				0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			75140406	1,13005	2203	4300	6503			0							g.chr7:75140406C>T	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75140406C>T								NR_028059.1						0	1221	-								A6NG70|Q3MJ29	RNA	SNP	ENST00000418756.1	37																																																																																						0.537	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		139	562	0	0	0	1	0	139	562				
CHD5	26038	broad.mit.edu	37	1	6181169	6181169	+	Silent	SNP	C	C	T	rs200772880	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6181169C>T	ENST00000262450.3	-	33	5007	c.4908G>A	c.(4906-4908)ccG>ccA	p.P1636P	CHD5_ENST00000378021.1_Silent_p.P493P	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCAACCTCTCGGCAGCTGCT	0.652													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		15535	0.0		0.0	False		,,,				2504	0.0					ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4906-4908)ccG>ccA		chromodomain helicase DNA binding protein 5							18.0	22.0	21.0					1																	6181169		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6181169C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4908G>A	1.37:g.6181169C>T						CHD5_ENST00000378021.1_Silent_p.P493P	p.P1636P	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	33	5007	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1636					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.4908G>A	CCDS57.1																																																																																				0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		12	117	0	0	0	1	0	12	117				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		9	55	0	0	0	1	0	9	55				
YBX2	51087	broad.mit.edu	37	17	7195345	7195345	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7195345C>A	ENST00000007699.5	-	3	432	c.369G>T	c.(367-369)caG>caT	p.Q123H	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	123	CSD.|Required for cytoplasmic retention. {ECO:0000250}.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TAGCTCTTACCTGGTGAACAA	0.517																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.e3+1		Y box binding protein 2							149.0	119.0	129.0					17																	7195345		2203	4300	6503	SO:0001630	splice_region_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7195345C>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.369+1G>T	17.37:g.7195345C>A						YBX2_ENST00000570627.1_5'UTR	p.Q123_splice	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			3	432	-			123			CSD.|Required for cytoplasmic retention (By similarity).		D3DTP1|Q8N4P0	Splice_Site	SNP	ENST00000007699.5	37	c.369_splice	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327992	0.95733	.	.	ENSG00000006047	ENST00000007699	T	0.35048	1.33	5.05	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.202863	0.44902	D	0.000411	T	0.54287	0.1849	L	0.49256	1.55	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.46359	-0.9197	9	.	.	.	-24.0131	16.7077	0.85376	0.0:1.0:0.0:0.0	.	123	Q9Y2T7	YBOX2_HUMAN	H	123	ENSP00000007699:Q123H	.	Q	-	3	2	YBX2	7136069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.905000	0.75714	2.744000	0.94065	0.561000	0.74099	CAG		0.517	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982	Missense_Mutation	62	293	1	0	1.53134e-21	1	1.72607e-21	62	293				
PWWP2B	170394	broad.mit.edu	37	10	134219145	134219145	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219145T>C	ENST00000305233.5	+	2	1200	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	381										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGCGGACTTGTCTTCTGGAAG	0.677																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1141-1143)Tct>Cct		PWWP domain containing 2B							39.0	40.0	40.0					10																	134219145		2201	4285	6486	SO:0001583	missense	170394							g.chr10:134219145T>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1141T>C	10.37:g.134219145T>C	ENSP00000306324:p.Ser381Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	p.S381P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1200	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	381					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1141T>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889976	0.33348	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.58210	0.35;1.33	4.51	3.27	0.37495	.	0.085660	0.50627	U	0.000103	T	0.54598	0.1868	L	0.32530	0.975	0.21020	N	0.999802	D	0.71674	0.998	D	0.65773	0.938	T	0.38757	-0.9646	10	0.29301	T	0.29	-10.9623	9.4798	0.38893	0.158:0.0:0.0:0.842	.	381	Q6NUJ5	PWP2B_HUMAN	P	381	ENSP00000306324:S381P;ENSP00000357598:S381P	ENSP00000306324:S381P	S	+	1	0	PWWP2B	134069135	0.972000	0.33761	0.209000	0.23619	0.039000	0.13416	1.739000	0.38217	1.815000	0.52974	0.460000	0.39030	TCT		0.677	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		115	377	0	0	0	1	0	115	377				
MDN1	23195	broad.mit.edu	37	6	90463282	90463282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463282C>A	ENST00000369393.3	-	22	3139	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1008					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACAGATGAGCTTCTGAACTA	0.378																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(3022-3024)aaG>aaT		MDN1, midasin homolog (yeast)							138.0	135.0	136.0					6																	90463282		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90463282C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3024G>T	6.37:g.90463282C>A	ENSP00000358400:p.Lys1008Asn					MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N	p.K1008N			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	22	3139	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1008					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.3024G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566399	0.27915	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19250	3.92;3.92;2.16	5.91	-0.626	0.11544	.	0.054527	0.64402	D	0.000001	T	0.05593	0.0147	L	0.45698	1.435	0.45183	D	0.998198	B;B	0.24533	0.105;0.013	B;B	0.19391	0.025;0.016	T	0.18555	-1.0333	10	0.23302	T	0.38	.	6.1607	0.20362	0.1198:0.5202:0.0:0.36	.	935;1008	Q5T795;Q9NU22	.;MDN1_HUMAN	N	1008;1008;935	ENSP00000358400:K1008N;ENSP00000413970:K1008N;ENSP00000409664:K935N	ENSP00000358400:K1008N	K	-	3	2	MDN1	90520003	0.996000	0.38824	0.999000	0.59377	0.940000	0.58332	0.386000	0.20702	0.127000	0.18452	-0.140000	0.14226	AAG		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			82	385	1	0	3.05217e-42	1	3.71447e-42	82	385				
CWH43	80157	broad.mit.edu	37	4	49034600	49034600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49034600G>A	ENST00000226432.4	+	12	1709	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	CWH43_ENST00000513409.1_Missense_Mutation_p.R482K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	509					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTTTGTCAAGATACCCAATT	0.458																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1525-1527)aGa>aAa		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							277.0	242.0	254.0					4																	49034600		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49034600G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1526G>A	4.37:g.49034600G>A	ENSP00000226432:p.Arg509Lys					CWH43_ENST00000513409.1_Missense_Mutation_p.R482K	p.R509K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			12	1709	+			509					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1526G>A	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764591	0.02996	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.78246	-1.16;-1.16	5.24	5.24	0.73138	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000016	T	0.45955	0.1368	N	0.00652	-1.29	0.38358	D	0.944522	B	0.33022	0.394	B	0.24974	0.057	T	0.58317	-0.7657	9	.	.	.	.	16.7881	0.85579	0.0:0.0:1.0:0.0	.	509	Q9H720	PG2IP_HUMAN	K	509;482	ENSP00000226432:R509K;ENSP00000422802:R482K	.	R	+	2	0	CWH43	48729357	0.998000	0.40836	0.865000	0.33974	0.101000	0.19017	4.487000	0.60293	2.737000	0.93849	0.561000	0.74099	AGA		0.458	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		199	1033	0	0	0	1	0	199	1033				
LRP1B	53353	broad.mit.edu	37	2	141283540	141283540	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141283540G>A	ENST00000389484.3	-	49	8870	c.7899C>T	c.(7897-7899)ttC>ttT	p.F2633F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2633	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGCTTATAGAAATGTGTGC	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7897-7899)ttC>ttT		low density lipoprotein receptor-related protein 1B							98.0	92.0	94.0					2																	141283540		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141283540G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7899C>T	2.37:g.141283540G>A		TSP Lung(27;0.18)					p.F2633F	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	49	8870	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2633			LDL-receptor class A 14.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.7899C>T	CCDS2182.1																																																																																				0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	265	0	0	0	1	0	15	265				
ZNF570	148268	broad.mit.edu	37	19	37974942	37974942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37974942G>T	ENST00000330173.1	+	5	947	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	ZNF570_ENST00000586475.1_Missense_Mutation_p.G196C|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCAACCAGGTAATCAGAA	0.378																																						ENST00000330173.1																			0				endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27						c.(418-420)Ggt>Tgt		zinc finger protein 570							140.0	140.0	140.0					19																	37974942		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37974942G>T	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.418G>T	19.37:g.37974942G>T	ENSP00000331540:p.Gly140Cys					ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.G196C	p.G140C	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	947	+			140					A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.418G>T	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661220	0.14645	.	.	ENSG00000171827	ENST00000330173	T	0.04706	3.57	4.85	-1.08	0.09936	.	3.239520	0.01906	N	0.039487	T	0.05593	0.0147	L	0.52573	1.65	0.09310	N	0.999999	P	0.38167	0.621	B	0.36186	0.219	T	0.38972	-0.9636	10	0.21014	T	0.42	.	4.8816	0.13683	0.3478:0.0:0.51:0.1421	.	140	Q96NI8	ZN570_HUMAN	C	140	ENSP00000331540:G140C	ENSP00000331540:G140C	G	+	1	0	ZNF570	42666782	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	0.422000	0.21296	0.039000	0.15632	0.563000	0.77884	GGT		0.378	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		15	760	1	0	1.3612e-06	1	1.40558e-06	15	760				
FAM78A	286336	broad.mit.edu	37	9	134151321	134151321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151321C>A	ENST00000372271.3	-	1	613	c.246G>T	c.(244-246)aaG>aaT	p.K82N		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	82										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		AAGTCTCCTTCTTGGGGATGG	0.637																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(244-246)aaG>aaT		family with sequence similarity 78, member A							59.0	53.0	55.0					9																	134151321		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134151321C>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.246G>T	9.37:g.134151321C>A	ENSP00000361345:p.Lys82Asn						p.K82N	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	1	613	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	82					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.246G>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320578	0.60634	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.426241	0.27673	N	0.018336	T	0.44498	0.1296	N	0.22421	0.69	0.37573	D	0.919492	B	0.21905	0.062	B	0.15870	0.014	T	0.41106	-0.9527	9	0.23891	T	0.37	-26.4836	17.3899	0.87427	0.0:1.0:0.0:0.0	.	82	Q5JUQ0	FA78A_HUMAN	N	82	.	ENSP00000361345:K82N	K	-	3	2	FAM78A	133141142	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.895000	0.39778	2.422000	0.82143	0.561000	0.74099	AAG		0.637	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		46	206	1	0	1.02591e-13	1	1.10939e-13	46	206				
EHD1	10938	broad.mit.edu	37	11	64641903	64641903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64641903C>T	ENST00000320631.3	-	2	746	c.492G>A	c.(490-492)cgG>cgA	p.R164R	EHD1_ENST00000359393.2_Silent_p.R164R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	164	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCTGCTGATCCGCTGCTTCT	0.557																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(490-492)cgG>cgA		EH-domain containing 1							63.0	47.0	53.0					11																	64641903		2200	4294	6494	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64641903C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.492G>A	11.37:g.64641903C>T						EHD1_ENST00000359393.2_Silent_p.R164R	p.R164R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			2	746	-			164					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.492G>A	CCDS8084.1																																																																																				0.557	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		12	39	0	0	0	1	0	12	39				
MYCBP2	23077	broad.mit.edu	37	13	77742684	77742684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77742684G>A	ENST00000544440.2	-	40	5896	c.5879C>T	c.(5878-5880)tCg>tTg	p.S1960L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1998L					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)		GCTATCTGTCGACTGATTAGG	0.493																																						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.(5992-5994)tCg>tTg		MYC binding protein 2, E3 ubiquitin protein ligase							229.0	198.0	208.0					13																	77742684		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77742684G>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.5879C>T	13.37:g.77742684G>A	ENSP00000444596:p.Ser1960Leu					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1960L	p.S1998L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	40	6259	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1960						Missense_Mutation	SNP	ENST00000544440.2	37	c.5993C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.475990	0.84640	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31769	1.48;1.48;1.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.04467	-1.0949	10	0.10111	T	0.7	.	20.0567	0.97653	0.0:0.0:1.0:0.0	.	1960	O75592	MYCB2_HUMAN	L	1960;1998;1960	ENSP00000349892:S1960L;ENSP00000384288:S1998L;ENSP00000444596:S1960L	ENSP00000349892:S1960L	S	-	2	0	MYCBP2	76640685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.752000	0.94435	0.650000	0.86243	TCG		0.493	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		65	379	0	0	0	1	0	65	379				
HECW2	57520	broad.mit.edu	37	2	197143304	197143304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197143304G>A	ENST00000260983.3	-	15	3265	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	HECW2_ENST00000409111.1_Missense_Mutation_p.A672V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1028	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGAACCAGCGCACTTGTGGG	0.537																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3082-3084)gCg>gTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							155.0	127.0	136.0					2																	197143304		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197143304G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3083C>T	2.37:g.197143304G>A	ENSP00000260983:p.Ala1028Val					HECW2_ENST00000409111.1_Missense_Mutation_p.A672V	p.A1028V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			15	3265	-			1028			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3083C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320375	0.23994	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84298	-1.83;-1.83	5.28	5.28	0.74379	.	0.129557	0.53938	D	0.000045	T	0.68943	0.3056	N	0.14661	0.345	0.42479	D	0.992858	P	0.43938	0.822	B	0.30716	0.119	T	0.71922	-0.4446	10	0.28530	T	0.3	.	13.9925	0.64376	0.0:0.0:0.8487:0.1513	.	1028	Q9P2P5	HECW2_HUMAN	V	672;1028	ENSP00000386775:A672V;ENSP00000260983:A1028V	ENSP00000260983:A1028V	A	-	2	0	HECW2	196851549	1.000000	0.71417	0.565000	0.28409	0.083000	0.17756	5.769000	0.68865	2.745000	0.94114	0.655000	0.94253	GCG		0.537	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		18	349	0	0	0	1	0	18	349				
RAB8A	4218	broad.mit.edu	37	19	16232605	16232605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16232605C>A	ENST00000300935.3	+	3	504	c.231C>A	c.(229-231)taC>taA	p.Y77*	RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*|CTD-2231E14.8_ENST00000597983.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	77					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CAACGGCCTACTACAGGGGTG	0.448																																						ENST00000300935.3																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						c.(229-231)taC>taA		RAB8A, member RAS oncogene family							224.0	191.0	202.0					19																	16232605		2203	4300	6503	SO:0001587	stop_gained	4218				cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding	g.chr19:16232605C>A		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.231C>A	19.37:g.16232605C>A	ENSP00000300935:p.Tyr77*					RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*	p.Y77*	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN			3	504	+			77					B4DEK7|P24407|Q6FHV5	Nonsense_Mutation	SNP	ENST00000300935.3	37	c.231C>A	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382872	0.95967	.	.	ENSG00000167461	ENST00000300935	.	.	.	4.6	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1928	0.31379	0.0:0.8137:0.0:0.1863	.	.	.	.	X	77	.	ENSP00000300935:Y77X	Y	+	3	2	RAB8A	16093605	0.997000	0.39634	1.000000	0.80357	0.536000	0.34869	0.511000	0.22739	0.942000	0.37525	0.305000	0.20034	TAC		0.448	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		84	368	1	0	3.90494e-43	1	4.76426e-43	84	368				
GPR137	56834	broad.mit.edu	37	11	64054213	64054213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054213C>T	ENST00000313074.3	+	1	322	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	GPR137_ENST00000438980.2_Missense_Mutation_p.R73C|GPR137_ENST00000539851.1_Missense_Mutation_p.R73C|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000394531.3_5'Flank|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R131C|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	73						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGCCGCCTTGCGTACCACCCT	0.622																																						ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(217-219)Cgt>Tgt		G protein-coupled receptor 137							157.0	159.0	158.0					11																	64054213		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64054213C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.217C>T	11.37:g.64054213C>T	ENSP00000321698:p.Arg73Cys					GPR137_ENST00000313074.3_Missense_Mutation_p.R73C|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C|GPR137_ENST00000411458.1_Missense_Mutation_p.R131C|GPR137_ENST00000438980.2_Missense_Mutation_p.R73C	p.R73C	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			2	684	+			73					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.217C>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298482	0.81025	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540370;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T;T;T;T;T;T;T	0.71579	1.54;-0.58;-0.35;1.54;1.54;1.54;1.54;-0.41;-0.51;1.54;1.54	4.01	3.07	0.35406	.	0.000000	0.64402	D	0.000001	T	0.77315	0.4112	L	0.47716	1.5	0.58432	D	0.999993	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;0.997;0.994;1.0;0.968;0.996;0.994	T	0.77694	-0.2492	10	0.87932	D	0	-5.3832	10.5188	0.44907	0.1953:0.8047:0.0:0.0	.	73;131;79;73;73;73;73	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	C	79;131;73;73;73;73;73;73;73;73;73;73;73;73	ENSP00000445570:R79C;ENSP00000411827:R131C;ENSP00000442792:R73C;ENSP00000438716:R73C;ENSP00000446342:R73C;ENSP00000441003:R73C;ENSP00000445000:R73C;ENSP00000415698:R73C;ENSP00000321698:R73C;ENSP00000441034:R73C;ENSP00000442929:R73C	ENSP00000321698:R73C	R	+	1	0	GPR137	63810789	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.337000	0.43947	0.871000	0.35750	0.561000	0.74099	CGT		0.622	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		238	1158	0	0	0	1	0	238	1158				
CNKSR1	10256	broad.mit.edu	37	1	26511616	26511616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26511616G>A	ENST00000374253.5	+	14	1307	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	CNKSR1_ENST00000531191.1_Missense_Mutation_p.R158H|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R416H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	423	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGCCCGCGCTGGCGCCGC	0.667																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(472-474)cGc>cAc		connector enhancer of kinase suppressor of Ras 1							7.0	9.0	8.0					1																	26511616		2153	4192	6345	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26511616G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1268G>A	1.37:g.26511616G>A	ENSP00000363371:p.Arg423His					CNKSR1_ENST00000374253.5_Missense_Mutation_p.R423H|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R416H	p.R158H			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	13	1480	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	423			CRIC.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.473G>A		.	.	.	.	.	.	.	.	.	.	G	17.77	3.472137	0.63737	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.76186	-1.0;-1.0;-1.0	5.55	3.68	0.42216	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.119683	0.56097	N	0.000035	T	0.75332	0.3835	L	0.60455	1.87	0.40934	D	0.984419	D;D	0.57899	0.96;0.981	P;P	0.54401	0.727;0.751	T	0.76454	-0.2953	10	0.66056	D	0.02	-20.5718	5.6613	0.17670	0.3675:0.0:0.6325:0.0	.	423;416	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	416;423;158	ENSP00000354609:R416H;ENSP00000363371:R423H;ENSP00000431817:R158H	ENSP00000354609:R416H	R	+	2	0	CNKSR1	26384203	1.000000	0.71417	0.994000	0.49952	0.120000	0.20174	6.685000	0.74543	1.344000	0.45657	-0.145000	0.13849	CGC		0.667	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		7	41	0	0	0	1	0	7	41				
ZNF473	25888	broad.mit.edu	37	19	50549918	50549918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549918G>A	ENST00000595661.1	+	6	2713	c.2218G>A	c.(2218-2220)Ggc>Agc	p.G740S	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S|ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	740					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAGGCCTTCGGCCTGAGTGC	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2218-2220)Ggc>Agc		zinc finger protein 473							77.0	81.0	79.0					19																	50549918		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549918G>A	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2218G>A	19.37:g.50549918G>A	ENSP00000472808:p.Gly740Ser		OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S|ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S|ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S	p.G740S			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2713	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	740					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.2218G>A	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051748	0.01981	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07114	3.22;3.22;3.22	4.17	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.670270	0.13095	N	0.414241	T	0.01800	0.0057	N	0.01122	-1.005	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.44174	-0.9345	10	0.02654	T	1	-0.0068	5.1114	0.14811	0.3631:0.0:0.475:0.1619	.	740	Q8WTR7	ZN473_HUMAN	S	740;740;728	ENSP00000270617:G740S;ENSP00000375697:G740S;ENSP00000388961:G728S	ENSP00000270617:G740S	G	+	1	0	ZNF473	55241730	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.786000	0.04623	-0.277000	0.09193	-0.312000	0.09012	GGC		0.512	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		71	311	0	0	0	1	0	71	311				
CCDC129	223075	broad.mit.edu	37	7	31618023	31618023	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31618023G>T	ENST00000407970.3	+	8	1183	c.1145G>T	c.(1144-1146)gGa>gTa	p.G382V	CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.G290V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAGGCAAAGGACCAGACTCA	0.483																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(868-870)gGa>gTa		coiled-coil domain containing 129							44.0	43.0	43.0					7																	31618023		1994	4171	6165	SO:0001583	missense	223075							g.chr7:31618023G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1145G>T	7.37:g.31618023G>T	ENSP00000384416:p.Gly382Val					CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V|CCDC129_ENST00000407970.3_Missense_Mutation_p.G382V|CCDC129_ENST00000319386.3_Intron	p.G290V			Q6ZRS4	CC129_HUMAN			6	1053	+			382					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.869G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875476	0.51695	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18338	2.48;2.48;2.22	5.61	-0.895	0.10560	.	.	.	.	.	T	0.11410	0.0278	L	0.34521	1.04	0.21841	N	0.999514	B;B;B	0.20261	0.043;0.043;0.043	B;B;B	0.17433	0.018;0.018;0.018	T	0.36432	-0.9748	8	.	.	.	-7.5263	8.2676	0.31824	0.0886:0.5671:0.269:0.0752	.	408;392;382	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	V	382;408;392;290	ENSP00000384416:G382V;ENSP00000395835:G408V;ENSP00000387214:G290V	.	G	+	2	0	CCDC129	31584548	0.008000	0.16893	0.007000	0.13788	0.586000	0.36452	0.146000	0.16180	-0.381000	0.07882	0.655000	0.94253	GGA		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		36	179	1	0	3.33393e-15	1	3.63836e-15	36	179				
ANKRD50	57182	broad.mit.edu	37	4	125592066	125592066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125592066G>A	ENST00000504087.1	-	4	3403	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	789										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACCCATAGACGCTGCTGCTAA	0.458																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(2365-2367)gCg>gTg		ankyrin repeat domain 50							142.0	131.0	135.0					4																	125592066		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592066G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2366C>T	4.37:g.125592066G>A	ENSP00000425658:p.Ala789Val					ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	p.A789V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	3403	-			789					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2366C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184636	0.57909	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.63417	-0.04;-0.04	4.99	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.46819	1.47	0.80722	D	1	D	0.59767	0.986	P	0.57009	0.811	T	0.72367	-0.4315	10	0.56958	D	0.05	.	18.4729	0.90781	0.0:0.0:1.0:0.0	.	789	Q9ULJ7	ANR50_HUMAN	V	789;610	ENSP00000425658:A789V;ENSP00000425355:A610V	ENSP00000425658:A789V	A	-	2	0	ANKRD50	125811516	1.000000	0.71417	0.916000	0.36221	0.746000	0.42486	9.060000	0.93907	2.606000	0.88127	0.561000	0.74099	GCG		0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		91	380	0	0	0	1	0	91	380				
MAML3	55534	broad.mit.edu	37	4	140640600	140640600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140640600G>A	ENST00000509479.2	-	5	4150	c.3294C>T	c.(3292-3294)ggC>ggT	p.G1098G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CAGCTCCGTCGCCACTGTAAT	0.607																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(3292-3294)ggC>ggT		mastermind-like 3 (Drosophila)							60.0	67.0	65.0					4																	140640600		2172	4285	6457	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140640600G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3294C>T	4.37:g.140640600G>A						MGST2_ENST00000515137.1_Intron	p.G1098G	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	4150	-	all_hematologic(180;0.162)		1094						Silent	SNP	ENST00000509479.2	37	c.3294C>T	CCDS54805.1																																																																																				0.607	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			48	292	0	0	0	1	0	48	292				
RIF1	55183	broad.mit.edu	37	2	152311610	152311610	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152311610C>A	ENST00000243326.5	+	21	3029	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTTTGCCTTCTATGATCCGA	0.358																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2545-2547)tCt>tAt		RAP1 interacting factor homolog (yeast)							113.0	111.0	112.0					2																	152311610		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311610C>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2546C>A	2.37:g.152311610C>A	ENSP00000243326:p.Ser849Tyr					RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y	p.S849Y			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	3029	+			849					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2546C>A	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.861107|3.861107	0.71949|0.71949	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.|T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32	5.55|5.55	4.68|4.68	0.58851|0.58851	.|.	.|0.189056	.|0.46758	.|D	.|0.000273	T|T	0.79845|0.79845	0.4516|0.4516	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.994;0.999	T|T	0.81998|0.81998	-0.0675|-0.0675	5|10	.|0.72032	.|D	.|0.01	-5.8134|-5.8134	14.3304|14.3304	0.66553|0.66553	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|849;849	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	L|Y	840|849	.|ENSP00000390181:S849Y;ENSP00000414615:S849Y;ENSP00000415691:S849Y;ENSP00000243326:S849Y;ENSP00000416123:S849Y	.|ENSP00000243326:S849Y	F|S	+|+	3|2	2|0	RIF1|RIF1	152019856|152019856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.074000|3.074000	0.50065|0.50065	1.349000|1.349000	0.45751|0.45751	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			117	521	1	0	1.76152e-51	1	2.18623e-51	117	521				
AR	367	broad.mit.edu	37	X	66937403	66937403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:66937403C>T	ENST00000374690.3	+	5	2781	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	AR_ENST00000396043.2_Nonsense_Mutation_p.R221*|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	752	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CATGGGCTGGCGATCCTTCAC	0.532									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM920998	AR	M		c.(2257-2259)Cga>Tga		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						148.0	102.0	117.0					X																	66937403		2203	4300	6503	SO:0001587	stop_gained	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66937403C>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2257C>T	X.37:g.66937403C>T	ENSP00000363822:p.Arg753*					AR_ENST00000396043.2_Nonsense_Mutation_p.R221*|AR_ENST00000396044.3_Intron	p.R753*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			5	2781	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	752			Interaction with MYST2.|Ligand-binding.		A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	ENST00000374690.3	37	c.2257C>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	35	5.473941	0.96291	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	.	.	.	4.99	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6126	0.45432	0.6588:0.3412:0.0:0.0	.	.	.	.	X	563;753;221	.	ENSP00000363822:R753X	R	+	1	2	AR	66854128	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.969000	0.49232	0.464000	0.27142	0.597000	0.82753	CGA		0.532	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		50	136	0	0	0	1	0	50	136				
ABL1	25	broad.mit.edu	37	9	133730325	133730325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133730325C>T	ENST00000318560.5	+	3	772	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	131	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GTACCATGGGCCTGTGTCCCG	0.562			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(391-393)Cct>Tct		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						128.0	102.0	111.0					9																	133730325		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133730325C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.391C>T	9.37:g.133730325C>T	ENSP00000323315:p.Pro131Ser						p.P131S	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	3	772	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	131			SH2.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.391C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157772	0.94686	.	.	ENSG00000097007	ENST00000372348;ENST00000318560	D;D	0.87729	-2.29;-2.29	5.67	5.67	0.87782	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	N	0.11201	0.11	0.80722	D	1	P;P	0.39250	0.665;0.665	B;B	0.43478	0.421;0.421	D	0.84783	0.0774	10	0.87932	D	0	.	18.8246	0.92111	0.0:1.0:0.0:0.0	.	131;168	P00519;Q59FK4	ABL1_HUMAN;.	S	150;131	ENSP00000361423:P150S;ENSP00000323315:P131S	ENSP00000323315:P131S	P	+	1	0	ABL1	132720146	1.000000	0.71417	0.914000	0.36105	0.984000	0.73092	7.744000	0.85034	2.677000	0.91161	0.638000	0.83543	CCT		0.562	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		16	311	0	0	0	1	0	16	311				
KRBA2	124751	broad.mit.edu	37	17	8274848	8274848	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8274848G>T	ENST00000331336.2	-	1	10	c.5C>A	c.(4-6)cCt>cAt	p.P2H	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	2					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CAGGAATGAAGGCATGCAGCA	0.483																																						ENST00000331336.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(4-6)cCt>cAt		KRAB-A domain containing 2							54.0	58.0	56.0					17																	8274848		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8274848G>T	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.5C>A	17.37:g.8274848G>T	ENSP00000328017:p.Pro2His					KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA	p.P2H	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN			1	10	-			2					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.5C>A	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745553	0.15710	.	.	ENSG00000184619	ENST00000331336	T	0.31769	1.48	2.21	1.22	0.21188	.	.	.	.	.	T	0.16896	0.0406	N	0.14661	0.345	0.09310	N	1	P	0.45283	0.855	B	0.41036	0.346	T	0.11084	-1.0602	9	0.87932	D	0	.	4.8906	0.13724	0.1807:0.0:0.8193:0.0	.	2	Q6ZNG9	KRBA2_HUMAN	H	2	ENSP00000328017:P2H	ENSP00000328017:P2H	P	-	2	0	KRBA2	8215573	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.832000	0.27490	0.501000	0.28013	0.462000	0.41574	CCT		0.483	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		35	196	1	0	2.42023e-17	1	2.67004e-17	35	196				
WDR78	79819	broad.mit.edu	37	1	67306218	67306218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67306218C>T	ENST00000371026.3	-	9	1483	c.1428G>A	c.(1426-1428)tgG>tgA	p.W476*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	476					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGAAAAAGACCAAAGTCGTT	0.398																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1426-1428)tgG>tgA		WD repeat domain 78							197.0	192.0	194.0					1																	67306218		2203	4300	6503	SO:0001587	stop_gained	79819							g.chr1:67306218C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1428G>A	1.37:g.67306218C>T	ENSP00000360065:p.Trp476*					WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*	p.W476*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			9	1483	-			476					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	ENST00000371026.3	37	c.1428G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439263	0.83885	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8706	18.8908	0.92403	0.0:1.0:0.0:0.0	.	.	.	.	X	476;222;242;476;98	.	ENSP00000360062:W476X	W	-	3	0	WDR78	67078806	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.311000	0.72835	2.794000	0.96219	0.650000	0.86243	TGG		0.398	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		69	355	0	0	0	1	0	69	355				
CCDC96	257236	broad.mit.edu	37	4	7044246	7044246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7044246G>T	ENST00000310085.4	-	1	482	c.420C>A	c.(418-420)ttC>ttA	p.F140L	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	140	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GAGAGGCCTGGAACCTGACTT	0.701																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(418-420)ttC>ttA		coiled-coil domain containing 96							25.0	27.0	26.0					4																	7044246		2201	4299	6500	SO:0001583	missense	257236							g.chr4:7044246G>T	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.420C>A	4.37:g.7044246G>T	ENSP00000309285:p.Phe140Leu					RP11-367J11.2_ENST00000500031.1_RNA	p.F140L	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	482	-			140			Glu-rich.		Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.420C>A	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898438	0.33535	.	.	ENSG00000173013	ENST00000310085	T	0.47177	0.85	3.43	-2.32	0.06745	.	.	.	.	.	T	0.24586	0.0596	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	9	0.27785	T	0.31	-0.006	2.5398	0.04722	0.2174:0.4506:0.2026:0.1294	.	140	Q2M329	CCD96_HUMAN	L	140	ENSP00000309285:F140L	ENSP00000309285:F140L	F	-	3	2	CCDC96	7095147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-0.314000	0.08716	-0.373000	0.07131	TTC		0.701	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		43	216	1	0	1.00776e-21	1	1.13667e-21	43	216				
PRDM10	56980	broad.mit.edu	37	11	129793151	129793151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129793151G>A	ENST00000360871.3	-	13	2257	c.2026C>T	c.(2026-2028)Caa>Taa	p.Q676*	PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000358825.5_Nonsense_Mutation_p.Q680*	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	680					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACCTTAAATTGCTTCCCACAG	0.507											OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2038-2040)Caa>Taa		PR domain containing 10							92.0	72.0	79.0					11																	129793151		2201	4297	6498	SO:0001587	stop_gained	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129793151G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2026C>T	11.37:g.129793151G>A	ENSP00000354118:p.Gln676*		OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000360871.3_Nonsense_Mutation_p.Q676*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*	p.Q680*	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	14	2269	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	680					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Nonsense_Mutation	SNP	ENST00000360871.3	37	c.2038C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	40	8.335163	0.98764	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-13.4947	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	680;590;676;594;650;594;393	.	ENSP00000302669:Q590X	Q	-	1	0	PRDM10	129298361	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.247000	0.95444	2.937000	0.99478	0.650000	0.86243	CAA		0.507	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		8	29	0	0	0	1	0	8	29				
LYPD4	147719	broad.mit.edu	37	19	42343377	42343377	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42343377C>A	ENST00000330743.3	-	0	1194				LYPD4_ENST00000601246.1_De_novo_Start_OutOfFrame|LYPD4_ENST00000343055.4_5'Flank	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TGTCTGGGTCCTGGGTGCTAG	0.562																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12								LY6/PLAUR domain containing 4							99.0	94.0	96.0					19																	42343377		2203	4300	6503			147719					anchored to membrane|plasma membrane		g.chr19:42343377C>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.-18G>T	19.37:g.42343377C>A						LYPD4_ENST00000601246.1_De_novo_Start_OutOfFrame		NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			0	1194	-								Q8IYW0	Translation_Start_Site	SNP	ENST00000330743.3	37		CCDS12587.1																																																																																				0.562	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		65	276	1	0	7.50695e-29	1	8.75429e-29	65	276				
ZNF304	57343	broad.mit.edu	37	19	57868604	57868604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868604T>C	ENST00000282286.5	+	3	1540	c.1367T>C	c.(1366-1368)tTt>tCt	p.F456S	ZNF304_ENST00000391705.3_Missense_Mutation_p.F456S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S|ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGGAAGGCCTTTGGCTGCAAA	0.473																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(1366-1368)tTt>tCt		zinc finger protein 304							82.0	80.0	80.0					19																	57868604		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868604T>C	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1367T>C	19.37:g.57868604T>C	ENSP00000282286:p.Phe456Ser					ZNF304_ENST00000282286.5_Missense_Mutation_p.F456S|ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S	p.F456S	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1651	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	456						Missense_Mutation	SNP	ENST00000282286.5	37	c.1367T>C	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145511	0.57044	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.47869	0.83;0.83;0.83	3.77	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61677	0.2366	M	0.86740	2.835	0.26755	N	0.970128	D;D	0.63880	0.993;0.992	P;P	0.55999	0.789;0.638	T	0.53781	-0.8390	9	0.72032	D	0.01	.	5.4267	0.16429	0.1544:0.0917:0.0:0.7539	.	456;503	Q9HCX3;E7EQD3	ZN304_HUMAN;.	S	456;456;503	ENSP00000282286:F456S;ENSP00000375586:F456S;ENSP00000401642:F503S	ENSP00000282286:F456S	F	+	2	0	ZNF304	62560416	1.000000	0.71417	0.025000	0.17156	0.950000	0.60333	7.141000	0.77330	0.255000	0.21593	0.528000	0.53228	TTT		0.473	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			79	402	0	0	0	1	0	79	402				
ANO9	338440	broad.mit.edu	37	11	418966	418966	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:418966T>C	ENST00000332826.6	-	21	2042	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank|SIGIRR_ENST00000332725.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	653					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGACAGGCTGTGGTTGACGTA	0.622																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1957-1959)cAc>cGc		anoctamin 9							161.0	141.0	148.0					11																	418966		2203	4300	6503	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:418966T>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1958A>G	11.37:g.418966T>C	ENSP00000332788:p.His653Arg						p.H653R	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			21	2042	-			653					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1958A>G	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	t	17.05	3.289423	0.59976	.	.	ENSG00000185101	ENST00000332826	T	0.62941	-0.01	4.44	3.3	0.37823	.	0.402097	0.25164	N	0.032656	T	0.71913	0.3396	M	0.78456	2.415	0.36470	D	0.867201	P;D	0.67145	0.929;0.996	P;P	0.60345	0.503;0.873	T	0.74402	-0.3677	10	0.42905	T	0.14	.	7.4028	0.26973	0.0:0.1758:0.0:0.8242	.	354;653	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	R	653	ENSP00000332788:H653R	ENSP00000332788:H653R	H	-	2	0	ANO9	408966	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.075000	0.57584	0.684000	0.31448	0.391000	0.25812	CAC		0.622	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		144	635	0	0	0	1	0	144	635				
ZAP70	7535	broad.mit.edu	37	2	98340886	98340886	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340886G>T	ENST00000264972.5	+	3	602	c.387G>T	c.(385-387)caG>caT	p.Q129H	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	129	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGTGCGCCAGACGTGGAAGC	0.701																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(385-387)caG>caT		zeta-chain (TCR) associated protein kinase 70kDa							5.0	6.0	5.0					2																	98340886		1968	3950	5918	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340886G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.387G>T	2.37:g.98340886G>T	ENSP00000264972:p.Gln129His						p.Q129H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			3	602	+			129			Interdomain A.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.387G>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730690	0.48939	.	.	ENSG00000115085	ENST00000264972	T	0.25912	1.77	4.9	4.9	0.64082	Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain (1);	0.000000	0.47852	D	0.000211	T	0.25344	0.0616	L	0.45137	1.4	0.80722	D	1	B;B	0.16396	0.017;0.003	B;B	0.12837	0.008;0.002	T	0.03673	-1.1014	10	0.54805	T	0.06	.	15.9444	0.79782	0.0:0.0:1.0:0.0	.	129;129	B4E0E2;P43403	.;ZAP70_HUMAN	H	129	ENSP00000264972:Q129H	ENSP00000264972:Q129H	Q	+	3	2	ZAP70	97707318	1.000000	0.71417	0.991000	0.47740	0.917000	0.54804	1.599000	0.36751	2.449000	0.82847	0.467000	0.42956	CAG		0.701	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			10	44	1	0	0.335167	1	0.335247	10	44				
NCKAP1	10787	broad.mit.edu	37	2	183791578	183791578	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183791578C>A	ENST00000361354.4	-	30	3608	c.3236G>T	c.(3235-3237)aGa>aTa	p.R1079I	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R1085I|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1079					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTCTATTTCTTGTTGTAGT	0.313																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(3253-3255)aGa>aTa		NCK-associated protein 1							100.0	99.0	99.0					2																	183791578		2202	4297	6499	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183791578C>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3236G>T	2.37:g.183791578C>A	ENSP00000355348:p.Arg1079Ile					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R1079I	p.R1085I	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		31	4012	-			1079					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.3254G>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162703	0.94727	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34859	1.34;1.34	5.36	5.36	0.76844	.	0.046284	0.85682	D	0.000000	T	0.56775	0.2008	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61800	0.894;0.83	T	0.59118	-0.7514	10	0.66056	D	0.02	-11.3828	19.0627	0.93099	0.0:1.0:0.0:0.0	.	1079;1085	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	I	1079;1085	ENSP00000355348:R1079I;ENSP00000354251:R1085I	ENSP00000354251:R1085I	R	-	2	0	NCKAP1	183499823	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.578000	0.82498	2.487000	0.83934	0.585000	0.79938	AGA		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		77	222	1	0	3.49902e-48	1	4.31606e-48	77	222				
NAV1	89796	broad.mit.edu	37	1	201786359	201786359	+	Silent	SNP	C	C	T	rs371533327		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201786359C>T	ENST00000367296.4	+	29	5904	c.5484C>T	c.(5482-5484)ccC>ccT	p.P1828P	NAV1_ENST00000367295.1_Silent_p.P1434P|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367297.4_Silent_p.P1820P|NAV1_ENST00000367302.1_Silent_p.P1781P|NAV1_ENST00000367300.3_Silent_p.P1768P|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1828					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTCACCTCCCGAGGATAGGA	0.522																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(5482-5484)ccC>ccT		neuron navigator 1		C	,	0,4406		0,0,2203	85.0	76.0	79.0		4302,5484	-11.1	0.4	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NAV1	NM_001167738.1,NM_020443.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1434/1484,1828/1878	201786359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201786359C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5484C>T	1.37:g.201786359C>T						NAV1_ENST00000367300.3_Silent_p.P1768P|NAV1_ENST00000367295.1_Silent_p.P1434P|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367297.4_Silent_p.P1820P|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367302.1_Silent_p.P1781P|IPO9-AS1_ENST00000413035.1_RNA	p.P1828P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			29	5904	+			1828					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.5484C>T	CCDS1414.2																																																																																				0.522	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		52	181	0	0	0	1	0	52	181				
EPS8	2059	broad.mit.edu	37	12	15803788	15803788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15803788C>T	ENST00000281172.5	-	14	1839	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	EPS8_ENST00000542903.1_Missense_Mutation_p.R208H|EPS8_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000543523.1_Missense_Mutation_p.R468H|EPS8_ENST00000543612.1_Missense_Mutation_p.R468H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	468					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCCTGTTTGCGCTGATGTTC	0.393																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1402-1404)cGc>cAc		epidermal growth factor receptor pathway substrate 8							113.0	106.0	108.0					12																	15803788		2203	4300	6503	SO:0001583	missense	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15803788C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1403G>A	12.37:g.15803788C>T	ENSP00000281172:p.Arg468His					EPS8_ENST00000543523.1_Missense_Mutation_p.R468H|EPS8_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000543612.1_Missense_Mutation_p.R468H|EPS8_ENST00000542903.1_Missense_Mutation_p.R208H	p.R468H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	14	1839	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	468					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1403G>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231913	0.39399	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07327	3.34;3.34;3.34;3.2;3.2	4.86	3.97	0.46021	.	0.290153	0.34652	N	0.003785	T	0.08891	0.0220	L	0.41710	1.295	0.40309	D	0.978692	B	0.11235	0.004	B	0.06405	0.002	T	0.08617	-1.0713	10	0.54805	T	0.06	-5.4412	13.0165	0.58759	0.0:0.9215:0.0:0.0785	.	468	Q12929	EPS8_HUMAN	H	468;468;468;208;208;468	ENSP00000441867:R468H;ENSP00000281172:R468H;ENSP00000442388:R468H;ENSP00000441888:R208H;ENSP00000437806:R208H	ENSP00000281172:R468H	R	-	2	0	EPS8	15695055	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.162000	0.50755	1.022000	0.39626	0.650000	0.86243	CGC		0.393	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			82	486	0	0	0	1	0	82	486				
SLC28A3	64078	broad.mit.edu	37	9	86955505	86955505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86955505C>A	ENST00000376238.4	-	1	93	c.44G>T	c.(43-45)aGc>aTc	p.S15I	SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	15					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GCCCACGTTGCTGTAGCCCTC	0.532																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(43-45)aGc>aTc		solute carrier family 28 (concentrative nucleoside transporter), member 3							150.0	130.0	137.0					9																	86955505		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86955505C>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.44G>T	9.37:g.86955505C>A	ENSP00000365413:p.Ser15Ile					SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	p.S15I	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			1	93	-			15					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.44G>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880787	0.17467	.	.	ENSG00000197506	ENST00000376238	T	0.01613	4.73	4.44	-0.595	0.11660	.	1.122910	0.06607	N	0.754892	T	0.01870	0.0059	L	0.36672	1.1	0.25130	N	0.990578	B	0.23128	0.08	B	0.24701	0.055	T	0.48080	-0.9066	10	0.45353	T	0.12	-0.0182	3.624	0.08107	0.1677:0.4559:0.0:0.3764	.	15	Q9HAS3	S28A3_HUMAN	I	15	ENSP00000365413:S15I	ENSP00000365413:S15I	S	-	2	0	SLC28A3	86145325	0.282000	0.24268	0.056000	0.19401	0.013000	0.08279	0.177000	0.16801	-0.101000	0.12219	0.561000	0.74099	AGC		0.532	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		102	454	1	0	1.54263e-40	1	1.87112e-40	102	454				
CDK15	65061	broad.mit.edu	37	2	202744776	202744776	+	Missense_Mutation	SNP	G	G	T	rs200366047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744776G>T	ENST00000374598.4	+	12	1084	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000450471.2_Missense_Mutation_p.D362Y			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	362	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGAAGCTGAAGACCTGGCCTC	0.498																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(1084-1086)Gac>Tac		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						64.0	62.0	62.0					2																	202744776		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744776G>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1084G>T	2.37:g.202744776G>T	ENSP00000363726:p.Asp362Tyr					CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000374598.4_Missense_Mutation_p.D362Y	p.D362Y	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			12	1170	+			362			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.1084G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.966716	0.74131	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.96	5.96	0.96718	.	0.055265	0.64402	D	0.000001	T	0.79358	0.4432	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	D	0.83988	0.0336	10	0.87932	D	0	-16.011	15.4778	0.75497	0.0677:0.0:0.9323:0.0	.	362	F8W6H8	.	Y	311;311;362;362;362	ENSP00000386901:D311Y;ENSP00000260967:D311Y;ENSP00000406472:D362Y;ENSP00000412775:D362Y;ENSP00000363726:D362Y	ENSP00000260967:D311Y	D	+	1	0	CDK15	202453021	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.404000	0.66344	2.828000	0.97474	0.655000	0.94253	GAC		0.498	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			15	209	1	0	1.49906e-05	1	1.53515e-05	15	209				
ARHGAP11B	89839	broad.mit.edu	37	15	30925773	30925773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30925773G>A	ENST00000428041.2	+	3	426	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	94	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTGTGATTCGCCTAAAAGCA	0.323																																						ENST00000428041.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8						c.(280-282)cGc>cAc		Rho GTPase activating protein 11B							75.0	79.0	77.0					15																	30925773		2202	4300	6502	SO:0001583	missense	89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30925773G>A	BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.281G>A	15.37:g.30925773G>A	ENSP00000392760:p.Arg94His						p.R94H	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	3	426	+		all_lung(180;2.71e-09)|Breast(32;0.00116)	94			Rho-GAP.			Missense_Mutation	SNP	ENST00000428041.2	37	c.281G>A	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.406947	0.42715	.	.	ENSG00000187951	ENST00000428041	T	0.20069	2.1	1.94	0.99	0.19807	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.47093	U	0.000254	T	0.39489	0.1080	M	0.76002	2.32	0.45515	D	0.998477	D	0.89917	1.0	D	0.91635	0.999	T	0.15150	-1.0447	10	0.72032	D	0.01	.	6.5968	0.22679	0.1673:0.0:0.8327:0.0	.	94	Q3KRB8	RHGBB_HUMAN	H	94	ENSP00000392760:R94H	ENSP00000392760:R94H	R	+	2	0	ARHGAP11B	28713065	1.000000	0.71417	0.978000	0.43139	0.479000	0.33129	7.878000	0.87231	0.364000	0.24374	0.384000	0.25694	CGC		0.323	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841		65	301	0	0	0	1	0	65	301				
NAV2	89797	broad.mit.edu	37	11	20089942	20089942	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20089942A>C	ENST00000396087.3	+	24	5248	c.5149A>C	c.(5149-5151)Aat>Cat	p.N1717H	NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000396085.1_Missense_Mutation_p.N1661H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1717					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGACAGCAAATGTAAGTAC	0.507																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4981-4983)Aat>Cat		neuron navigator 2							90.0	86.0	87.0					11																	20089942		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20089942A>C	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5149A>C	11.37:g.20089942A>C	ENSP00000379396:p.Asn1717His					NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000396087.3_Missense_Mutation_p.N1717H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H	p.N1661H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			22	5342	+			1717			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4981A>C	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600692	0.87055	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000003	D	0.95414	0.8511	L	0.60067	1.865	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.999;1.0;0.989;0.991;1.0;0.999	D;D;P;D;D;D	0.80764	0.985;0.959;0.847;0.914;0.994;0.949	D	0.94978	0.8123	9	.	.	.	.	13.6741	0.62443	1.0:0.0:0.0:0.0	.	1661;1717;725;710;1661;1597	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	H	1597;1661;1661;1717;1646;1648;725;710;725;710	ENSP00000353871:N1597H;ENSP00000379394:N1661H;ENSP00000309577:N1661H;ENSP00000379396:N1717H;ENSP00000435395:N1646H;ENSP00000443489:N1648H;ENSP00000437316:N725H;ENSP00000437136:N710H;ENSP00000312169:N725H	.	N	+	1	0	NAV2	20046518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.614000	0.74197	2.060000	0.61445	0.454000	0.30748	AAT		0.507	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		75	327	0	0	0	1	0	75	327				
RUSC1	23623	broad.mit.edu	37	1	155300316	155300316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155300316G>T	ENST00000368352.5	+	10	2814	c.2663G>T	c.(2662-2664)gGc>gTc	p.G888V	RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V|RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	888	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGCGGGATGGCATGGAGGGT	0.592																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2662-2664)gGc>gTc		RUN and SH3 domain containing 1							191.0	115.0	141.0					1																	155300316		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155300316G>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2663G>T	1.37:g.155300316G>T	ENSP00000357336:p.Gly888Val					RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V|RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V|RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V	p.G888V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	2814	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		888			SH3.		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2663G>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504510	0.64410	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.55	4.55	0.56014	Src homology-3 domain (4);	0.296833	0.24041	N	0.042097	T	0.77994	0.4214	M	0.93978	3.48	0.50467	D	0.999876	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.998;0.99;0.998	D;D;D;D;D;D;D	0.91635	0.969;0.948;0.969;0.999;0.962;0.948;0.957	T	0.81660	-0.0832	10	0.87932	D	0	-16.1287	7.2762	0.26286	0.1519:0.0:0.8481:0.0	.	386;419;419;313;478;387;888	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	V	782;888;478;419;419	ENSP00000357338:G782V;ENSP00000357336:G888V;ENSP00000357331:G478V;ENSP00000357333:G419V;ENSP00000292254:G419V	ENSP00000292254:G419V	G	+	2	0	RUSC1	153566940	0.831000	0.29352	0.943000	0.38184	0.942000	0.58702	2.686000	0.46968	2.518000	0.84900	0.467000	0.42956	GGC		0.592	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			29	170	1	0	2.25844e-05	1	2.3098e-05	29	170				
MEGF10	84466	broad.mit.edu	37	5	126781188	126781188	+	Missense_Mutation	SNP	G	G	A	rs138372925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126781188G>A	ENST00000274473.6	+	21	2798	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	844	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTTAAGCCGAACCAGTACT	0.438																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2530-2532)cGa>cAa		multiple EGF-like-domains 10		G	GLN/ARG	0,4406		0,0,2203	160.0	153.0	156.0		2531	4.8	1.0	5	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF10	NM_032446.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	844/1141	126781188	1,13005	2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126781188G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2531G>A	5.37:g.126781188G>A	ENSP00000274473:p.Arg844Gln					MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q|MEGF10_ENST00000510828.1_Intron	p.R844Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	21	2798	+		Prostate(80;0.165)	844			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2531G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928558	0.52759	0.0	1.16E-4	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56611	0.45;0.45	5.68	4.8	0.61643	.	0.129752	0.34314	N	0.004080	T	0.38453	0.1041	L	0.27053	0.805	0.36034	D	0.839609	B	0.18610	0.029	B	0.06405	0.002	T	0.36456	-0.9747	10	0.18276	T	0.48	-14.8769	14.9152	0.70792	0.0699:0.0:0.9301:0.0	.	844	Q96KG7	MEG10_HUMAN	Q	844	ENSP00000423354:R844Q;ENSP00000274473:R844Q	ENSP00000274473:R844Q	R	+	2	0	MEGF10	126809087	1.000000	0.71417	0.997000	0.53966	0.761000	0.43186	4.733000	0.62036	2.681000	0.91329	0.563000	0.77884	CGA		0.438	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		20	436	0	0	0	1	0	20	436				
OR4K5	79317	broad.mit.edu	37	14	20389182	20389182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20389182G>T	ENST00000315915.4	+	1	442	c.417G>T	c.(415-417)agG>agT	p.R139S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGCCGAAGGACATGCACTG	0.453																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(415-417)agG>agT		olfactory receptor, family 4, subfamily K, member 5							241.0	238.0	239.0					14																	20389182		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389182G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.417G>T	14.37:g.20389182G>T	ENSP00000319511:p.Arg139Ser						p.R139S	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	442	+	all_cancers(95;0.00108)		139					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.417G>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189108	0.09547	.	.	ENSG00000176281	ENST00000315915	T	0.40756	1.02	4.41	-4.2	0.03823	GPCR, rhodopsin-like superfamily (1);	0.544994	0.16027	N	0.233039	T	0.28300	0.0699	L	0.55213	1.73	0.09310	N	1	B	0.21452	0.056	B	0.24974	0.057	T	0.27938	-1.0059	10	0.59425	D	0.04	.	0.8276	0.01124	0.4045:0.1219:0.2264:0.2472	.	139	Q8NGD3	OR4K5_HUMAN	S	139	ENSP00000319511:R139S	ENSP00000319511:R139S	R	+	3	2	OR4K5	19459022	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-2.953000	0.00676	-0.847000	0.04168	-0.137000	0.14449	AGG		0.453	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		196	1335	1	0	1.15629e-50	1	1.43295e-50	196	1335				
KRCC1	51315	broad.mit.edu	37	2	88328012	88328012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328012G>A	ENST00000347055.3	-	4	464	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	24										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TAAGCCTCTGGCTTTCTGTAC	0.378																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(70-72)gCc>gTc		lysine-rich coiled-coil 1							41.0	43.0	42.0					2																	88328012		2203	4299	6502	SO:0001583	missense	51315							g.chr2:88328012G>A	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.71C>T	2.37:g.88328012G>A	ENSP00000340083:p.Ala24Val						p.A24V	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	464	-			24					Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.71C>T	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	25.2	4.613043	0.87258	.	.	ENSG00000172086	ENST00000347055	T	0.54479	0.57	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.72070	0.3415	M	0.69463	2.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73538	-0.3951	10	0.87932	D	0	-1.79	17.6132	0.88060	0.0:0.0:1.0:0.0	.	24	Q9NPI7	KRCC1_HUMAN	V	24	ENSP00000340083:A24V	ENSP00000340083:A24V	A	-	2	0	KRCC1	88109127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.961000	0.76042	2.759000	0.94783	0.650000	0.86243	GCC		0.378	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		73	264	0	0	0	1	0	73	264				
RINL	126432	broad.mit.edu	37	19	39361854	39361854	+	Silent	SNP	G	G	A	rs367723236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39361854G>A	ENST00000591812.1	-	7	551	c.465C>T	c.(463-465)atC>atT	p.I155I	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Silent_p.I41I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Silent_p.I41I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	155					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGACCCTGCCGATCTGCACAG	0.597																																						ENST00000340740.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(121-123)atC>atT		Ras and Rab interactor-like							53.0	52.0	52.0					19																	39361854		2203	4300	6503	SO:0001819	synonymous_variant	126432						GTPase activator activity	g.chr19:39361854G>A	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.465C>T	19.37:g.39361854G>A						RINL_ENST00000591812.1_Silent_p.I155I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.I41I	p.I41I	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			7	510	-			41					B4DPG5	Silent	SNP	ENST00000591812.1	37	c.123C>T	CCDS59386.1																																																																																				0.597	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		28	274	0	0	0	1	0	28	274				
TSPAN2	10100	broad.mit.edu	37	1	115601596	115601596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115601596G>A	ENST00000369516.2	-	5	383	c.352C>T	c.(352-354)Cga>Tga	p.R118*	TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	118			R -> L (in dbSNP:rs9659602).		astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGAACATGTCGGATAGCCTGA	0.418																																						ENST00000369516.2																			0				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10						c.(352-354)Cga>Tga		tetraspanin 2							195.0	182.0	186.0					1																	115601596		2203	4300	6503	SO:0001587	stop_gained	10100					integral to membrane		g.chr1:115601596G>A	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.352C>T	1.37:g.115601596G>A	ENSP00000358529:p.Arg118*					TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*	p.R118*	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	5	383	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	118		R -> L (in dbSNP:rs9659602).			D6PTH4|Q5TET2|Q8WU05	Nonsense_Mutation	SNP	ENST00000369516.2	37	c.352C>T	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780335	0.49891	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	.	.	.	5.8	4.87	0.63330	.	0.441004	0.26176	N	0.025888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	9.1783	0.37125	0.0:0.1415:0.5664:0.2921	.	.	.	.	X	118;93;112;118	.	ENSP00000358527:R118X	R	-	1	2	TSPAN2	115403119	0.952000	0.32445	0.749000	0.31150	0.161000	0.22273	2.305000	0.43664	1.424000	0.47217	0.655000	0.94253	CGA		0.418	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		159	545	0	0	0	1	0	159	545				
EGR1	1958	broad.mit.edu	37	5	137802696	137802696	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137802696G>T	ENST00000239938.4	+	2	830	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	186					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCGCCTCCCAGAGCCCACCCC	0.637																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(556-558)caG>caT		early growth response 1							111.0	116.0	114.0					5																	137802696		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802696G>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.558G>T	5.37:g.137802696G>T	ENSP00000239938:p.Gln186His						p.Q186H	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	830	+			186						Missense_Mutation	SNP	ENST00000239938.4	37	c.558G>T	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270913	0.40194	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.24723	1.84	4.75	3.88	0.44766	.	0.381500	0.27096	N	0.020949	T	0.40398	0.1115	L	0.53249	1.67	0.37369	D	0.911532	D	0.61697	0.99	D	0.64237	0.923	T	0.42865	-0.9426	10	0.62326	D	0.03	-10.3652	9.4134	0.38505	0.0798:0.1441:0.776:0.0	.	186	P18146	EGR1_HUMAN	H	186	ENSP00000239938:Q186H	ENSP00000239938:Q186H	Q	+	3	2	EGR1	137830595	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.315000	0.65810	0.992000	0.38840	0.305000	0.20034	CAG		0.637	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		234	1009	1	0	1.92159e-75	1	2.45072e-75	234	1009				
ZNF552	79818	broad.mit.edu	37	19	58320176	58320176	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58320176C>A	ENST00000391701.1	-	3	625	c.456G>T	c.(454-456)gaG>gaT	p.E152D	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACAACGCCTCCTCAACACTCC	0.483																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(454-456)gaG>gaT		zinc finger protein 552							137.0	134.0	135.0					19																	58320176		2203	4300	6503	SO:0001583	missense	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58320176C>A	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.456G>T	19.37:g.58320176C>A	ENSP00000375582:p.Glu152Asp					ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	p.E152D	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	625	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	152					B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	c.456G>T	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.042238	0.00402	.	.	ENSG00000178935	ENST00000391701	T	0.04654	3.58	1.4	-1.37	0.09056	.	.	.	.	.	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	1	B;B	0.25169	0.119;0.0	B;B	0.28139	0.086;0.0	T	0.46925	-0.9156	9	0.06625	T	0.88	.	4.5962	0.12330	0.0:0.4734:0.3019:0.2246	.	148;152	B7Z1H1;Q9H707	.;ZN552_HUMAN	D	152	ENSP00000375582:E152D	ENSP00000375582:E152D	E	-	3	2	ZNF552	63011988	0.257000	0.24022	0.000000	0.03702	0.003000	0.03518	0.998000	0.29744	-0.283000	0.09115	0.205000	0.17691	GAG		0.483	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		100	529	1	0	1.39345e-63	1	1.75924e-63	100	529				
PDE4DIP	9659	broad.mit.edu	37	1	144864303	144864303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144864303C>A	ENST00000369354.3	-	36	5981	c.5792G>T	c.(5791-5793)aGc>aTc	p.S1931I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2067I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1931					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCCTCAGGCTTTCTGTTTC	0.537			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6199-6201)aGc>aTc		phosphodiesterase 4D interacting protein							77.0	85.0	83.0					1																	144864303		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144864303C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5792G>T	1.37:g.144864303C>A	ENSP00000358360:p.Ser1931Ile					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1931I|RP4-791M13.4_ENST00000532137.1_RNA	p.S2067I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	39	6238	-			1931					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6200G>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.583|7.583	0.669135|0.669135	0.14776|0.14776	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01665	.|4.7;4.81;4.81;4.8;4.81	4.52|4.52	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	N|N	0.08118|0.08118	0|0	0.24301|0.24301	N|N	0.995126|0.995126	.|B;B	.|0.26744	.|0.047;0.158	.|B;B	.|0.18871	.|0.023;0.021	T|T	0.46624|0.46624	-0.9178|-0.9178	5|9	.|0.51188	.|T	.|0.08	.|.	3.2333|3.2333	0.06756|0.06756	0.195:0.5389:0.0:0.2661|0.195:0.5389:0.0:0.2661	.|.	.|1825;1931	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	S|I	88|1825;1931;1931;2016;2067	.|ENSP00000327209:S1825I;ENSP00000358360:S1931I;ENSP00000358363:S1931I;ENSP00000435654:S2016I;ENSP00000358366:S2067I	.|ENSP00000327209:S1825I	A|S	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143575660|143575660	0.766000|0.766000	0.28496|0.28496	0.468000|0.468000	0.27192|0.27192	0.453000|0.453000	0.32348|0.32348	1.302000|1.302000	0.33459|0.33459	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		64	663	1	0	3.00063e-23	1	3.40875e-23	64	663				
MCC	4163	broad.mit.edu	37	5	112676295	112676295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112676295G>T	ENST00000408903.3	-	3	963	c.548C>A	c.(547-549)gCt>gAt	p.A183D	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTGGAGAGCAGCCTGCTGATG	0.557																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(547-549)gCt>gAt		mutated in colorectal cancers							70.0	75.0	73.0					5																	112676295		2067	4205	6272	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112676295G>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.548C>A	5.37:g.112676295G>T	ENSP00000386227:p.Ala183Asp					CTD-2201G3.1_ENST00000416046.2_RNA	p.A183D	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	3	963	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	0					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.548C>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	G	4.330	0.060539	0.08339	.	.	ENSG00000171444	ENST00000408903	T	0.39229	1.09	4.2	1.36	0.22044	.	0.642545	0.12646	N	0.450843	T	0.20414	0.0491	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27706	-1.0066	9	0.12430	T	0.62	-0.0083	5.5	0.16823	0.236:0.0:0.6236:0.1404	.	183	P23508-2	.	D	183	ENSP00000386227:A183D	ENSP00000386227:A183D	A	-	2	0	MCC	112704194	0.979000	0.34478	0.000000	0.03702	0.209000	0.24338	3.270000	0.51600	0.134000	0.18681	0.561000	0.74099	GCT		0.557	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		6	284	1	0	0.00116845	1	0.00118049	6	284				
HYKK	123688	broad.mit.edu	37	15	78805579	78805579	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78805579T>C	ENST00000569878.1	+	1	149	c.149T>C	c.(148-150)gTc>gCc	p.V50A	HYKK_ENST00000408962.2_Missense_Mutation_p.V50A|HYKK_ENST00000563233.1_Missense_Mutation_p.V50A|HYKK_ENST00000360519.3_Missense_Mutation_p.V50A|HYKK_ENST00000566332.1_Missense_Mutation_p.V50A|HYKK_ENST00000388988.4_Missense_Mutation_p.V50A			A2RU49	HYKK_HUMAN	hydroxylysine kinase	50						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										AACTTTCATGTCTACGTTTCA	0.438																																						ENST00000566332.1																			0											c.(148-150)gTc>gCc		hydroxylysine kinase							103.0	100.0	101.0					15																	78805579		2000	4175	6175	SO:0001583	missense	123688							g.chr15:78805579T>C	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.149T>C	15.37:g.78805579T>C	ENSP00000455459:p.Val50Ala					HYKK_ENST00000388988.4_Missense_Mutation_p.V50A|HYKK_ENST00000360519.3_Missense_Mutation_p.V50A|HYKK_ENST00000408962.2_Missense_Mutation_p.V50A|HYKK_ENST00000569878.1_Missense_Mutation_p.V50A|HYKK_ENST00000563233.1_Missense_Mutation_p.V50A	p.V50A							2	209	+								B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP	ENST00000569878.1	37	c.149T>C	CCDS42063.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848193	0.71603	.	.	ENSG00000188266	ENST00000408962;ENST00000388988;ENST00000360519	T;T;T	0.35789	1.29;1.29;1.29	5.83	5.83	0.93111	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.150752	0.45361	D	0.000366	T	0.60766	0.2294	M	0.78916	2.43	0.39944	D	0.974455	B;D	0.67145	0.416;0.996	P;D	0.65140	0.507;0.932	T	0.67436	-0.5671	10	0.87932	D	0	-17.4498	16.1968	0.82036	0.0:0.0:0.0:1.0	.	50;50	A2RU49;A2RU49-3	AGPD1_HUMAN;.	A	50	ENSP00000386197:V50A;ENSP00000373640:V50A;ENSP00000353710:V50A	ENSP00000353710:V50A	V	+	2	0	AGPHD1	76592634	1.000000	0.71417	0.283000	0.24790	0.562000	0.35680	6.893000	0.75649	2.225000	0.72522	0.533000	0.62120	GTC		0.438	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435834.1	NM_001013619		88	348	0	0	0	1	0	88	348				
CEACAM18	729767	broad.mit.edu	37	19	51983707	51983707	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983707A>G	ENST00000396477.4	+	2	194	c.173A>G	c.(172-174)gAa>gGa	p.E58G	CEACAM18_ENST00000451626.1_Missense_Mutation_p.E119G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	58										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GATGTTCAGGAATACAGCTGG	0.567																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(172-174)gAa>gGa		carcinoembryonic antigen-related cell adhesion molecule 18							60.0	59.0	59.0					19																	51983707		2021	4182	6203	SO:0001583	missense	729767					integral to membrane		g.chr19:51983707A>G			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.173A>G	19.37:g.51983707A>G	ENSP00000379738:p.Glu58Gly					CEACAM18_ENST00000451626.1_Missense_Mutation_p.E119G	p.E58G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	194	+		all_neural(266;0.0529)	119					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.173A>G		.	.	.	.	.	.	.	.	.	.	.	0.177	-1.065486	0.01934	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.66815	-0.23	2.79	2.79	0.32731	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55337	0.1914	N	0.16130	0.375	0.09310	N	1	P	0.47106	0.89	P	0.55713	0.782	T	0.44862	-0.9300	9	0.07482	T	0.82	-6.6496	7.4747	0.27369	1.0:0.0:0.0:0.0	.	119	A8MTB9	CEA18_HUMAN	G	119;58;58	ENSP00000402203:E119G	ENSP00000379738:E58G	E	+	2	0	CEACAM18	56675519	0.029000	0.19370	0.161000	0.22692	0.065000	0.16274	0.378000	0.20569	1.567000	0.49668	0.529000	0.55759	GAA		0.567	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			4	111	0	0	0	1	0	4	111				
PARP6	56965	broad.mit.edu	37	15	72546819	72546819	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72546819T>G	ENST00000569795.1	-	15	1855	c.1168A>C	c.(1168-1170)Atg>Ctg	p.M390L	PARP6_ENST00000260376.7_Missense_Mutation_p.M390L|PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	390							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGAATAGACATCACACTATCC	0.443																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1168-1170)Atg>Ctg		poly (ADP-ribose) polymerase family, member 6							107.0	110.0	109.0					15																	72546819		1897	4114	6011	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72546819T>G	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1168A>C	15.37:g.72546819T>G	ENSP00000456348:p.Met390Leu					PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.M390L	p.M390L			Q2NL67	PARP6_HUMAN			15	1855	-			390					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.1168A>C	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092446	0.36952	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.22421	0.69	0.58432	D	0.999998	B;B;B	0.18863	0.0;0.031;0.0	B;B;B	0.14023	0.0;0.01;0.0	T	0.29882	-0.9997	9	0.23891	T	0.37	-33.475	14.8922	0.70617	0.0:0.0:0.0:1.0	.	390;390;322	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	390;390;390;235;235	.	ENSP00000260376:M390L	M	-	1	0	PARP6	70333873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.375000	0.79646	2.107000	0.64212	0.460000	0.39030	ATG		0.443	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		27	186	0	0	0	1	0	27	186				
C10orf55	414236	broad.mit.edu	37	10	75671996	75671996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75671996G>A	ENST00000409178.1	-	4	347	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	PLAU_ENST00000372762.4_Intron|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|PLAU_ENST00000446342.1_Missense_Mutation_p.G20R	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	3										endometrium(1)	1	Prostate(51;0.0112)					TCTAAATGGAGGAACATGTGT	0.537																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(58-60)Gga>Aga		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						110.0	98.0	102.0					10																	75671996		2203	4300	6503	SO:0001583	missense	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75671996G>A		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.7C>T	10.37:g.75671996G>A	ENSP00000386960:p.Leu3Phe					C10orf55_ENST00000409178.1_Missense_Mutation_p.L3F|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|PLAU_ENST00000372762.4_Intron|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F|PLAU_ENST00000494287.1_3'UTR	p.G20R	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			3	540	+	Prostate(51;0.0112)		37					Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.58G>A	CCDS53541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.07|19.07	3.756491|3.756491	0.69648|0.69648	.|.	.|.	ENSG00000122861|ENSG00000222047	ENST00000446342;ENST00000372764|ENST00000409178;ENST00000412307	D;D|.	0.88509|.	-2.39;-2.39|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46034|0.46034	0.1372|0.1372	N|N	0.08118|0.08118	0|0	0.30985|0.30985	N|N	0.722046|0.722046	D;D;D|D	0.89917|0.76494	1.0;1.0;1.0|0.999	D;D;D|D	0.91635|0.72982	0.999;0.999;0.998|0.979	T|T	0.54682|0.54682	-0.8257|-0.8257	10|8	0.87932|0.87932	D|D	0|0	.|.	15.6365|15.6365	0.76958|0.76958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	20;37;37|3	E7ET40;B2R7F2;P00749|Q5SWW7	.;.;UROK_HUMAN|CJ055_HUMAN	R|F	20;37|3	ENSP00000388474:G20R;ENSP00000361850:G37R|.	ENSP00000361850:G37R|ENSP00000386960:L3F	G|L	+|-	1|1	0|0	PLAU|C10orf55	75342002|75342002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.267000|0.267000	0.26476|0.26476	5.921000|5.921000	0.70028|0.70028	2.768000|2.768000	0.95171|0.95171	0.491000|0.491000	0.48974|0.48974	GGA|CTC		0.537	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		49	253	0	0	0	1	0	49	253				
OSBP2	23762	broad.mit.edu	37	22	31289171	31289171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31289171G>A	ENST00000332585.6	+	9	2036	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	644					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGAGCCTCTGGCAGGAGATCA	0.592																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1930-1932)tgG>tgA		oxysterol binding protein 2							39.0	44.0	42.0					22																	31289171		2040	4203	6243	SO:0001587	stop_gained	23762				lipid transport	membrane	lipid binding	g.chr22:31289171G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1932G>A	22.37:g.31289171G>A	ENSP00000332576:p.Trp644*					OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*	p.W644*	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			9	2036	+			644					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Nonsense_Mutation	SNP	ENST00000332585.6	37	c.1932G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.657238|6.657238	0.97739|0.97739	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|.	.|.	.|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.055783	.|0.85682	.|D	.|0.000000	T|.	0.45377|.	0.1339|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33266|.	-0.9875|.	4|.	.|0.02654	.|T	.|1	-11.9824|-11.9824	17.6971|17.6971	0.88285|0.88285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	316|478;471;644;595;643;277;386;188;275	.|.	.|ENSP00000332576:W644X	G|W	+|+	2|3	0|0	OSBP2|OSBP2	29619171|29619171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.443000|6.443000	0.73447|0.73447	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.592	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		45	182	0	0	0	1	0	45	182				
ZNF862	643641	broad.mit.edu	37	7	149559262	149559262	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559262T>C	ENST00000223210.4	+	7	3258	c.3013T>C	c.(3013-3015)Ttc>Ctc	p.F1005L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1005					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCACCTCCCGTTCTCCATGCT	0.602																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(3013-3015)Ttc>Ctc		zinc finger protein 862							46.0	52.0	50.0					7																	149559262		2081	4206	6287	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149559262T>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3013T>C	7.37:g.149559262T>C	ENSP00000223210:p.Phe1005Leu						p.F1005L	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	3258	+			1005					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.3013T>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723757	0.30593	.	.	ENSG00000106479	ENST00000223210	T	0.01106	5.33	5.39	4.24	0.50183	HAT dimerisation (1);	0.109105	0.41396	N	0.000896	T	0.01905	0.0060	M	0.62723	1.935	0.29944	N	0.820842	B	0.20887	0.049	B	0.26693	0.072	T	0.10776	-1.0615	10	0.48119	T	0.1	.	8.0079	0.30336	0.0:0.0917:0.0:0.9083	.	1005	O60290	ZN862_HUMAN	L	1005	ENSP00000223210:F1005L	ENSP00000223210:F1005L	F	+	1	0	ZNF862	149190195	0.976000	0.34144	0.770000	0.31555	0.858000	0.48976	2.150000	0.42254	0.897000	0.36392	0.533000	0.62120	TTC		0.602	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		40	239	0	0	0	1	0	40	239				
TRIM49C	642612	broad.mit.edu	37	11	89774511	89774511	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89774511G>T	ENST00000448984.1	+	8	1481	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|lung(4)	8						GGTGTATTAAGAATGACATTC	0.423																																						ENST00000448984.1																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(1150-1152)aaG>aaT		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774511G>T	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1152G>T	11.37:g.89774511G>T	ENSP00000388299:p.Lys384Asn					TRIM49C_ENST00000432771.1_Intron	p.K384N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1481	+			384			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.1152G>T	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379869	0.24944	.	.	ENSG00000204449	ENST00000448984	T	0.59224	0.28	1.02	0.0256	0.14146	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.61299	0.2336	L	0.45285	1.41	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48293	-0.9048	8	.	.	.	.	3.3892	0.07282	0.2968:0.0:0.7032:0.0	.	384	P0CI26	T49L2_HUMAN	N	384	ENSP00000388299:K384N	.	K	+	3	2	TRIM49L2	89414159	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.184000	0.03076	0.021000	0.15133	0.298000	0.19748	AAG		0.423	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		82	417	1	0	1.69816e-31	1	1.99967e-31	82	417				
CDK10	8558	broad.mit.edu	37	16	89758865	89758865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89758865C>T	ENST00000353379.7	+	6	469	c.426C>T	c.(424-426)tgC>tgT	p.C142C	CDK10_ENST00000505473.1_Silent_p.C71C|CDK10_ENST00000331006.8_Silent_p.C95C	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AGGTCAAGTGCATCGTGCTGC	0.597																																						ENST00000331006.8																			0				ovary(1)	1						c.(283-285)tgC>tgT		cyclin-dependent kinase 10							84.0	74.0	78.0					16																	89758865		2198	4300	6498	SO:0001819	synonymous_variant	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89758865C>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.426C>T	16.37:g.89758865C>T						CDK10_ENST00000353379.7_Silent_p.C142C|CDK10_ENST00000505473.1_Silent_p.C71C	p.C95C			Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	5	2026	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	142			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	ENST00000353379.7	37	c.285C>T	CCDS10984.2																																																																																				0.597	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			92	305	0	0	0	1	0	92	305				
MAPK7	5598	broad.mit.edu	37	17	19284985	19284985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19284985G>T	ENST00000308406.5	+	4	1849	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	488	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGTCTTTGAGGAGCCGGCTC	0.572																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(1462-1464)aGg>aTg		mitogen-activated protein kinase 7							26.0	29.0	28.0					17																	19284985		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284985G>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1463G>T	17.37:g.19284985G>T	ENSP00000311005:p.Arg488Met					MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M|MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000571657.1_Intron	p.R488M	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			4	1849	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		488			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.1463G>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	8.355	0.831813	0.16820	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.76839	-0.76;-1.05;-0.76;-0.76	4.25	3.28	0.37604	.	0.054356	0.64402	D	0.000001	T	0.80660	0.4665	L	0.40543	1.245	0.36651	D	0.877375	D	0.76494	0.999	D	0.74674	0.984	T	0.81874	-0.0732	10	0.44086	T	0.13	-18.1555	10.0352	0.42125	0.0997:0.0:0.9003:0.0	.	488	Q13164	MK07_HUMAN	M	488;349;488;488	ENSP00000311005:R488M;ENSP00000299612:R349M;ENSP00000378968:R488M;ENSP00000378966:R488M	ENSP00000299612:R349M	R	+	2	0	MAPK7	19225578	1.000000	0.71417	0.399000	0.26333	0.027000	0.11550	2.565000	0.45939	1.011000	0.39340	-0.254000	0.11334	AGG		0.572	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		24	125	1	0	1.55469e-16	1	1.70887e-16	24	125				
RREB1	6239	broad.mit.edu	37	6	7230407	7230407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7230407C>T	ENST00000349384.6	+	10	2389	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	RREB1_ENST00000334984.6_Missense_Mutation_p.T692M|RREB1_ENST00000379938.2_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	692					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCTGCGCACGCACAGTGGG	0.637																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2074-2076)aCg>aTg		ras responsive element binding protein 1							64.0	58.0	60.0					6																	7230407		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230407C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2075C>T	6.37:g.7230407C>T	ENSP00000305560:p.Thr692Met					RREB1_ENST00000349384.6_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M|RREB1_ENST00000334984.6_Missense_Mutation_p.T692M	p.T692M	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2612	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	692					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2075C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500948	0.64298	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.54	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.25606	0.0623	L	0.39020	1.185	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.03597	-1.1021	10	0.54805	T	0.06	-40.0095	14.2575	0.66062	0.0:0.9293:0.0:0.0707	.	692;692;692	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	692	ENSP00000369265:T692M;ENSP00000369270:T692M;ENSP00000305560:T692M;ENSP00000335574:T692M;ENSP00000419511:T692M	ENSP00000335574:T692M	T	+	2	0	RREB1	7175406	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	4.656000	0.61483	1.570000	0.49709	0.655000	0.94253	ACG		0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			46	270	0	0	0	1	0	46	270				
DDRGK1	65992	broad.mit.edu	37	20	3175985	3175985	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3175985C>T	ENST00000354488.3	-	5	582	c.525G>A	c.(523-525)agG>agA	p.R175R	DDRGK1_ENST00000380201.2_Silent_p.R175R	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	175						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGCGGGCCTTCCTCTCCTCCT	0.607																																						ENST00000354488.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(523-525)agG>agA		DDRGK domain containing 1							92.0	77.0	82.0					20																	3175985		2203	4300	6503	SO:0001819	synonymous_variant	65992					endoplasmic reticulum	protein binding	g.chr20:3175985C>T	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.525G>A	20.37:g.3175985C>T						DDRGK1_ENST00000380201.2_Silent_p.R175R	p.R175R	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN			5	582	-			175					A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	ENST00000354488.3	37	c.525G>A	CCDS13050.1																																																																																				0.607	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		62	292	0	0	0	1	0	62	292				
AP4B1	10717	broad.mit.edu	37	1	114442925	114442925	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442925G>T	ENST00000369569.1	-	5	995	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M|AP4B1_ENST00000462591.1_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	239					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCCAACAGATTGAGAATG	0.453																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(715-717)Ctg>Atg		adaptor-related protein complex 4, beta 1 subunit							98.0	92.0	94.0					1																	114442925		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442925G>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.715C>A	1.37:g.114442925G>T	ENSP00000358582:p.Leu239Met					AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M|AP4B1-AS1_ENST00000419536.1_RNA	p.L239M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	995	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	239					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.715C>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310287	0.60414	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;2.52;1.73;1.73;1.73	5.2	2.25	0.28309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.070081	0.64402	D	0.000014	T	0.30070	0.0753	M	0.78456	2.415	0.52501	D	0.999951	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.993;0.994;0.995;0.994	T	0.08911	-1.0699	10	0.36615	T	0.2	-4.2859	4.4719	0.11717	0.3052:0.0:0.5495:0.1454	.	146;71;239;140	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	M	71;239;239;146;164;71;239	ENSP00000358580:L71M;ENSP00000358582:L239M;ENSP00000256658:L239M;ENSP00000358579:L146M;ENSP00000358577:L164M;ENSP00000393622:L71M;ENSP00000358584:L239M	ENSP00000256658:L239M	L	-	1	2	AP4B1	114244448	1.000000	0.71417	0.989000	0.46669	0.937000	0.57800	2.477000	0.45180	0.270000	0.21984	-0.258000	0.10820	CTG		0.453	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		36	302	1	0	2.51541e-25	1	2.88513e-25	36	302				
CFH	3075	broad.mit.edu	37	1	196684801	196684801	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196684801A>T	ENST00000367429.4	+	11	1838	c.1598A>T	c.(1597-1599)gAc>gTc	p.D533V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	533	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						gacacattGGACTATGAATGC	0.363																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1597-1599)gAc>gTc		complement factor H							247.0	231.0	236.0					1																	196684801		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684801A>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1598A>T	1.37:g.196684801A>T	ENSP00000356399:p.Asp533Val						p.D533V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			11	1838	+			533			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1598A>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985538	0.35036	.	.	ENSG00000000971	ENST00000367429	T	0.63255	-0.03	5.65	4.51	0.55191	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.60818	0.2298	M	0.87456	2.885	0.80722	D	1	P	0.37370	0.592	B	0.34452	0.183	T	0.58002	-0.7713	9	0.15499	T	0.54	.	8.9973	0.36061	0.8355:0.0:0.0:0.1645	.	533	P08603	CFAH_HUMAN	V	533	ENSP00000356399:D533V	ENSP00000356399:D533V	D	+	2	0	CFH	194951424	0.963000	0.33076	0.949000	0.38748	0.025000	0.11179	2.018000	0.40991	0.943000	0.37553	0.533000	0.62120	GAC		0.363	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		30	671	0	0	0	1	0	30	671				
MDFI	4188	broad.mit.edu	37	6	41621208	41621208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41621208C>T	ENST00000373050.4	+	4	640	c.453C>T	c.(451-453)tgC>tgT	p.C151C				Q99750	MDFI_HUMAN	MyoD family inhibitor	212					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GTGCCGACTGCGACCTGCCCT	0.652																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(451-453)tgC>tgT		MyoD family inhibitor							113.0	97.0	102.0					6																	41621208		2203	4300	6503	SO:0001819	synonymous_variant	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621208C>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.453C>T	6.37:g.41621208C>T							p.C151C			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	640	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		212						Silent	SNP	ENST00000373050.4	37	c.453C>T																																																																																					0.652	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		12	752	0	0	0	1	0	12	752				
F11R	50848	broad.mit.edu	37	1	160970463	160970463	+	Missense_Mutation	SNP	C	C	T	rs376990307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160970463C>T	ENST00000368026.6	-	4	620	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	116	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TAGCTGTTGCCGCCTTCCTCA	0.542																																						ENST00000368026.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12						c.(346-348)Ggc>Agc		F11 receptor		C	SER/GLY	0,4406		0,0,2203	212.0	146.0	168.0		346	5.2	0.9	1		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11R	NM_016946.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/300	160970463	1,13005	2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160970463C>T	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.346G>A	1.37:g.160970463C>T	ENSP00000357005:p.Gly116Ser					F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR	p.G116S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		4	620	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		116			Ig-like V-type 1.		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.346G>A	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979286	0.74360	0.0	1.16E-4	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.39592	1.07;1.07	5.18	5.18	0.71444	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.363922	0.28093	N	0.016631	T	0.46756	0.1409	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.65815	0.993;0.972;0.972;0.995	P;B;B;P	0.55112	0.705;0.304;0.304;0.769	T	0.51965	-0.8638	10	0.45353	T	0.12	.	9.7562	0.40504	0.0:0.9054:0.0:0.0946	.	120;116;116;116	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	S	116;116;116;120	ENSP00000357005:G116S;ENSP00000394809:G120S	ENSP00000289779:G116S	G	-	1	0	F11R	159237087	0.989000	0.36119	0.870000	0.34147	0.947000	0.59692	3.702000	0.54800	2.392000	0.81423	0.563000	0.77884	GGC		0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		70	416	0	0	0	1	0	70	416				
KCNH5	27133	broad.mit.edu	37	14	63269112	63269112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269112G>A	ENST00000322893.7	-	9	2025	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V|KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	586					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAGCAGAGGGCATCCACACT	0.517																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1756-1758)gCc>gTc		potassium voltage-gated channel, subfamily H (eag-related), member 5							112.0	97.0	102.0					14																	63269112		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269112G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1757C>T	14.37:g.63269112G>A	ENSP00000321427:p.Ala586Val					KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V|KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V	p.A586V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	2025	-			586					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1757C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720742	0.48728	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96802	-3.09;-4.13;-3.09	4.93	4.93	0.64822	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.173476	0.52532	D	0.000080	D	0.95582	0.8564	L	0.56340	1.77	0.80722	D	1	B;B;B	0.29341	0.01;0.01;0.242	B;B;B	0.36766	0.015;0.009;0.232	D	0.94704	0.7886	10	0.54805	T	0.06	.	18.4893	0.90841	0.0:0.0:1.0:0.0	.	528;586;586	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	V	586;586;528	ENSP00000321427:A586V;ENSP00000395439:A586V;ENSP00000378419:A528V	ENSP00000321427:A586V	A	-	2	0	KCNH5	62338865	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.913000	0.56394	2.449000	0.82847	0.563000	0.77884	GCC		0.517	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		76	337	0	0	0	1	0	76	337				
SYNE1	23345	broad.mit.edu	37	6	152738006	152738006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152738006C>T	ENST00000367255.5	-	41	6167	c.5566G>A	c.(5566-5568)Gcc>Acc	p.A1856T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1856					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTGGCTGGCCTCCTCAAAC	0.602										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5566-5568)Gcc>Acc		spectrin repeat containing, nuclear envelope 1							73.0	73.0	73.0					6																	152738006		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152738006C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5566G>A	6.37:g.152738006C>T	ENSP00000356224:p.Ala1856Thr	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T	p.A1856T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6167	-		Ovarian(120;0.0955)	1856					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5566G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904732	0.72868	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000007	T	0.41396	0.1157	M	0.64997	1.995	0.80722	D	1	P;D;D;D	0.62365	0.874;0.991;0.991;0.98	B;P;P;P	0.56960	0.223;0.78;0.78;0.81	T	0.32771	-0.9894	10	0.42905	T	0.14	.	15.7724	0.78180	0.0:0.935:0.0:0.065	.	1839;1856;1856;1863	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	1856;1863;1856;1863;1893	ENSP00000356224:A1856T;ENSP00000396024:A1863T;ENSP00000265368:A1856T;ENSP00000390975:A1863T;ENSP00000341887:A1893T	ENSP00000265368:A1856T	A	-	1	0	SYNE1	152779699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	1.623000	0.50342	0.650000	0.86243	GCC		0.602	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		90	351	0	0	0	1	0	90	351				
CABIN1	23523	broad.mit.edu	37	22	24455729	24455729	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24455729T>C	ENST00000398319.2	+	11	1687	c.1302T>C	c.(1300-1302)ttT>ttC	p.F434F	CABIN1_ENST00000405822.2_Silent_p.F384F|CABIN1_ENST00000263119.5_Silent_p.F434F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	434					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATTCCTTTAATAACTATG	0.443																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1300-1302)ttT>ttC		calcineurin binding protein 1							93.0	84.0	87.0					22																	24455729		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24455729T>C	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1302T>C	22.37:g.24455729T>C						CABIN1_ENST00000263119.5_Silent_p.F434F|CABIN1_ENST00000405822.2_Silent_p.F384F	p.F434F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			11	1687	+			434					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.1302T>C	CCDS13823.1																																																																																				0.443	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		53	177	0	0	0	1	0	53	177				
BSDC1	55108	broad.mit.edu	37	1	32842030	32842030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32842030G>A	ENST00000455895.2	-	9	1022	c.989C>T	c.(988-990)cCc>cTc	p.P330L	BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000341071.7_Missense_Mutation_p.P347L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	330										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGAATAGGGGGTGAGGGTCC	0.637																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1039-1041)cCc>cTc		BSD domain containing 1							71.0	71.0	71.0					1																	32842030		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32842030G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.989C>T	1.37:g.32842030G>A	ENSP00000412173:p.Pro330Leu					BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L|BSDC1_ENST00000455895.2_Missense_Mutation_p.P330L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L	p.P347L			Q9NW68	BSDC1_HUMAN			9	1051	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	330					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.1040C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	8.042	0.764088	0.15914	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	3.95	0.45737	.	0.522233	0.22742	N	0.056182	T	0.56529	0.1991	L	0.54323	1.7	0.42041	D	0.991071	B;B;B;B;B	0.22003	0.035;0.004;0.02;0.063;0.005	B;B;B;B;B	0.19666	0.026;0.016;0.009;0.026;0.004	T	0.58787	-0.7575	9	0.62326	D	0.03	-7.0418	11.2939	0.49267	0.0866:0.0:0.9134:0.0	.	235;274;347;347;330	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	L	330;269;347;235;274;347;330	.	ENSP00000344816:P347L	P	-	2	0	BSDC1	32614617	0.989000	0.36119	0.908000	0.35775	0.112000	0.19704	4.329000	0.59260	1.372000	0.46190	0.462000	0.41574	CCC		0.637	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		49	513	0	0	0	1	0	49	513				
OR10X1	128367	broad.mit.edu	37	1	158548724	158548724	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548724A>G	ENST00000368150.1	-	1	965	c.966T>C	c.(964-966)gtT>gtC	p.V322V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TTTTCAAGGCAACTGTGTTTC	0.428																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(964-966)gtT>gtC		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							144.0	149.0	147.0					1																	158548724		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548724A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.966T>C	1.37:g.158548724A>G							p.V322V	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	965	-	all_hematologic(112;0.0378)		322					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.966T>C	CCDS30900.1																																																																																				0.428	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		196	967	0	0	0	1	0	196	967				
ZNF777	27153	broad.mit.edu	37	7	149128930	149128930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149128930G>A	ENST00000247930.4	-	6	2756	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	727					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCACTTGGCGCAGTGCGTGC	0.721																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(2431-2433)tgC>tgT		zinc finger protein 777							21.0	24.0	23.0					7																	149128930		2201	4295	6496	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149128930G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2433C>T	7.37:g.149128930G>A							p.C811C	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2756	-	Melanoma(164;0.165)		0					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.2433C>T	CCDS43675.1																																																																																				0.721	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		25	154	0	0	0	1	0	25	154				
EPPK1	83481	broad.mit.edu	37	8	144947078	144947078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144947078G>T	ENST00000525985.1	-	2	415	c.344C>A	c.(343-345)gCt>gAt	p.A115D				P58107	EPIPL_HUMAN	epiplakin 1	115						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCACGCTCAGCGGCCAGCAG	0.687																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(343-345)gCt>gAt		epiplakin 1							25.0	30.0	28.0					8																	144947078		2044	4185	6229	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947078G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.344C>A	8.37:g.144947078G>T	ENSP00000436337:p.Ala115Asp						p.A115D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	415	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		115					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.344C>A		.	.	.	.	.	.	.	.	.	.	G	16.71	3.197863	0.58126	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.44	4.44	0.53790	.	.	.	.	.	D	0.88055	0.6334	M	0.83774	2.66	0.43308	D	0.99531	D	0.89917	1.0	D	0.80764	0.994	D	0.89571	0.3813	9	0.62326	D	0.03	.	14.5862	0.68326	0.0:0.0:1.0:0.0	.	115	E9PPU0	.	D	115	ENSP00000436337:A115D	ENSP00000436337:A115D	A	-	2	0	EPPK1	145019066	1.000000	0.71417	0.105000	0.21289	0.010000	0.07245	7.583000	0.82559	2.304000	0.77564	0.407000	0.27541	GCT		0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		46	238	1	0	2.24722e-20	1	2.51766e-20	46	238				
EDNRB	1910	broad.mit.edu	37	13	78477491	78477491	+	Nonsense_Mutation	SNP	G	G	A	rs104894391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78477491G>A	ENST00000334286.5	-	3	837	c.601C>T	c.(601-603)Cga>Tga	p.R201*	EDNRB_ENST00000377211.4_Nonsense_Mutation_p.R291*|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	201					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCAACAGCTCGATATCTGAAG	0.343																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42	GRCh37	CM020406	EDNRB	M	rs104894391	c.(871-873)Cga>Tga		endothelin receptor type B	Bosentan(DB00559)	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	84.0	93.0	90.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	601,601,871,601	4.2	1.0	13	dbSNP_132	90	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	201/443,201/443,291/533,201/437	78477491	1,13005	2203	4300	6503	SO:0001587	stop_gained	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477491G>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.601C>T	13.37:g.78477491G>A	ENSP00000335311:p.Arg201*					EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*|EDNRB_ENST00000334286.5_Nonsense_Mutation_p.R201*	p.R291*	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	4	1023	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	201					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonsense_Mutation	SNP	ENST00000334286.5	37	c.871C>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588172	0.97684	0.0	1.16E-4	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3691	14.7119	0.69238	0.0:0.0:0.8544:0.1456	.	.	.	.	X	291;201;201	.	ENSP00000335311:R201X	R	-	1	2	EDNRB	77375492	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.477000	0.60223	2.521000	0.84997	0.650000	0.86243	CGA		0.343	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			77	413	0	0	0	1	0	77	413				
CPAMD8	27151	broad.mit.edu	37	19	17010326	17010326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17010326T>C	ENST00000443236.1	-	37	4980	c.4949A>G	c.(4948-4950)tAt>tGt	p.Y1650C	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1603						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCACTTCATACCTCTTCAT	0.577																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4948-4950)tAt>tGt		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							67.0	75.0	73.0					19																	17010326		2087	4224	6311	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17010326T>C	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4949A>G	19.37:g.17010326T>C	ENSP00000402505:p.Tyr1650Cys						p.Y1650C	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			37	4980	-			1603					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4949A>G	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.02|18.02	3.530404|3.530404	0.64860|0.64860	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000013	T|T	0.79713|0.79713	0.4493|0.4493	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.81992|0.81992	-0.0678|-0.0678	5|9	.|0.56958	.|D	.|0.05	.|.	11.2812|11.2812	0.49195|0.49195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1603	.|Q8IZJ3	.|CPMD8_HUMAN	V|C	1661|1650	.|.	.|ENSP00000291440:Y1650C	M|Y	-|-	1|2	0|0	CPAMD8|CPAMD8	16871326|16871326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.702000|5.702000	0.68332|0.68332	1.123000|1.123000	0.41961|0.41961	0.444000|0.444000	0.29173|0.29173	ATG|TAT		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		37	203	0	0	0	1	0	37	203				
ANO4	121601	broad.mit.edu	37	12	101295517	101295517	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295517C>T	ENST00000392977.3	+	0	164				ANO4_ENST00000538618.1_Missense_Mutation_p.P151L|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CGTCGCCTGCCTGTGGTCAGG	0.498										HNSCC(74;0.22)																												ENST00000538618.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(451-453)cCt>cTt		anoctamin 4							86.0	84.0	85.0					12																	101295517		2203	4300	6503	SO:0001623	5_prime_UTR_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101295517C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.-47C>T	12.37:g.101295517C>T		HNSCC(74;0.22)				ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR	p.P151L			Q32M45	ANO4_HUMAN			4	452	+			0					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.452C>T		.	.	.	.	.	.	.	.	.	.	C	13.91	2.377867	0.42105	.	.	ENSG00000151572	ENST00000538618	T	0.73681	-0.77	5.64	2.28	0.28536	.	.	.	.	.	T	0.75532	0.3862	.	.	.	0.21184	N	0.999767	.	.	.	.	.	.	T	0.67043	-0.5770	6	0.72032	D	0.01	.	11.7047	0.51592	0.0:0.6955:0.2329:0.0716	.	.	.	.	L	151	ENSP00000443751:P151L	ENSP00000443751:P151L	P	+	2	0	ANO4	99819648	0.985000	0.35326	0.961000	0.40146	0.156000	0.22039	3.087000	0.50167	0.699000	0.31761	-0.176000	0.13171	CCT		0.498	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		51	544	0	0	0	1	0	51	544				
CPA1	1357	broad.mit.edu	37	7	130027777	130027777	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130027777G>A	ENST00000011292.3	+	10	1335	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	CPA1_ENST00000484324.1_Silent_p.Q307Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	395					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGCCTCCCAGATCATCCCCA	0.577																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1183-1185)caG>caA		carboxypeptidase A1 (pancreatic)							214.0	209.0	211.0					7																	130027777		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130027777G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1185G>A	7.37:g.130027777G>A						CPA1_ENST00000484324.1_Silent_p.Q307Q	p.Q395Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			10	1335	+	Melanoma(18;0.0435)		395					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.1185G>A	CCDS5820.1																																																																																				0.577	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		317	1287	0	0	0	1	0	317	1287				
DNAH2	146754	broad.mit.edu	37	17	7689644	7689644	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7689644A>C	ENST00000572933.1	+	40	7792	c.6332A>C	c.(6331-6333)aAc>aCc	p.N2111T	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2111	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAGACCCTAACTTCAACATT	0.597																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6331-6333)aAc>aCc		dynein, axonemal, heavy chain 2							38.0	37.0	37.0					17																	7689644		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7689644A>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6332A>C	17.37:g.7689644A>C	ENSP00000458355:p.Asn2111Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T	p.N2111T			Q9P225	DYH2_HUMAN			40	7792	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2111			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6332A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255034	0.39896	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.44881	0.91	5.43	4.35	0.52113	ATPase, dynein-related, AAA domain (1);	0.283115	0.39834	N	0.001242	T	0.30355	0.0762	L	0.42632	1.34	0.80722	D	1	B	0.19583	0.037	B	0.21546	0.035	T	0.07616	-1.0763	10	0.14252	T	0.57	.	6.8105	0.23802	0.7675:0.1527:0.0798:0.0	.	2111	Q9P225	DYH2_HUMAN	T	2111	ENSP00000373825:N2111T	ENSP00000353818:N2111T	N	+	2	0	DNAH2	7630369	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.029000	0.41098	1.086000	0.41228	0.528000	0.53228	AAC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		16	177	0	0	0	1	0	16	177				
PTPN6	5777	broad.mit.edu	37	12	7064578	7064578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7064578G>A	ENST00000318974.9	+	6	921	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q|PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q|PTPN6_ENST00000456013.1_Missense_Mutation_p.R226Q	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	226					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATTGAGAACCGAGTGTTGGAA	0.582																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(676-678)cGa>cAa		protein tyrosine phosphatase, non-receptor type 6							144.0	158.0	154.0					12																	7064578		2065	4190	6255	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7064578G>A		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.677G>A	12.37:g.7064578G>A	ENSP00000326010:p.Arg226Gln					PTPN6_ENST00000318974.9_Missense_Mutation_p.R226Q|PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q|PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q	p.R226Q	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			6	919	+			226					A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.677G>A	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804738	0.96967	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.15372	2.5;2.45;2.45;2.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.84585	2.705	0.80722	D	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	0.999;1.0;1.0;0.999;0.999	T	0.54702	-0.8254	10	0.56958	D	0.05	.	18.6319	0.91363	0.0:0.0:1.0:0.0	.	214;187;226;226;228	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	Q	228;187;226;226	ENSP00000382376:R228Q;ENSP00000415979:R187Q;ENSP00000326010:R226Q;ENSP00000391592:R226Q	ENSP00000326010:R226Q	R	+	2	0	PTPN6	6934839	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.336000	0.96533	2.465000	0.83290	0.561000	0.74099	CGA		0.582	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		138	728	0	0	0	1	0	138	728				
KIDINS220	57498	broad.mit.edu	37	2	8871626	8871626	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871626G>A	ENST00000256707.3	-	30	4721	c.4540C>T	c.(4540-4542)Ctg>Ttg	p.L1514L	KIDINS220_ENST00000418530.1_Silent_p.L1415L|KIDINS220_ENST00000473731.1_Silent_p.L1495L|KIDINS220_ENST00000427284.1_Silent_p.L1495L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1514					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGATAGCGCAGCCCACTTCCC	0.458																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(4540-4542)Ctg>Ttg		kinase D-interacting substrate, 220kDa							57.0	59.0	58.0					2																	8871626		1901	4114	6015	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871626G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4540C>T	2.37:g.8871626G>A						KIDINS220_ENST00000473731.1_Silent_p.L1495L|KIDINS220_ENST00000418530.1_Silent_p.L1415L|KIDINS220_ENST00000427284.1_Silent_p.L1495L	p.L1514L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	4721	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1514					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.4540C>T	CCDS42650.1																																																																																				0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		59	313	0	0	0	1	0	59	313				
BHLHE40	8553	broad.mit.edu	37	3	5025367	5025367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5025367C>T	ENST00000256495.3	+	5	1832	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	410					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AACTTAGAAACCAAAGACTAA	0.468																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(1228-1230)aCc>aTc		basic helix-loop-helix family, member e40							79.0	90.0	87.0					3																	5025367		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025367C>T	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1229C>T	3.37:g.5025367C>T	ENSP00000256495:p.Thr410Ile						p.T410I	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1832	+			410					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.1229C>T	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800971	0.90538	.	.	ENSG00000134107	ENST00000256495	T	0.49432	0.78	5.51	5.51	0.81932	.	0.097328	0.64402	D	0.000001	T	0.57286	0.2043	M	0.63843	1.955	0.80722	D	1	P	0.52061	0.95	P	0.48840	0.592	T	0.61926	-0.6962	10	0.72032	D	0.01	.	19.0124	0.92879	0.0:1.0:0.0:0.0	.	410	O14503	BHE40_HUMAN	I	410	ENSP00000256495:T410I	ENSP00000256495:T410I	T	+	2	0	BHLHE40	5000367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.286000	0.78671	2.589000	0.87451	0.655000	0.94253	ACC		0.468	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		107	498	0	0	0	1	0	107	498				
CYP1A1	1543	broad.mit.edu	37	15	75014721	75014721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75014721G>T	ENST00000379727.3	-	2	916	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CYP1A1_ENST00000395049.4_Missense_Mutation_p.L240I|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I|CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	240					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AGGTAGCGAAGAATAGGGATG	0.473									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(718-720)Ctt>Att		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						96.0	93.0	94.0					15																	75014721		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014721G>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.718C>A	15.37:g.75014721G>T	ENSP00000369050:p.Leu240Ile					CYP1A1_ENST00000395049.4_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I	p.L240I			P04798	CP1A1_HUMAN			2	916	-			240					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.718C>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919052	0.73098	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049	T;T;T	0.71579	-0.58;-0.58;-0.58	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.84326	2.69	0.80722	D	1	D;D	0.69078	0.997;0.968	D;D	0.74348	0.983;0.936	D	0.87143	0.2204	10	0.56958	D	0.05	.	18.384	0.90461	0.0:0.0:1.0:0.0	.	240;240	E7EMT5;P04798	.;CP1A1_HUMAN	I	240	ENSP00000369050:L240I;ENSP00000378488:L240I;ENSP00000378489:L240I	ENSP00000369050:L240I	L	-	1	0	CYP1A1	72801774	1.000000	0.71417	0.725000	0.30721	0.863000	0.49368	6.597000	0.74118	2.322000	0.78497	0.555000	0.69702	CTT		0.473	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		54	283	1	0	3.50607e-19	1	3.90628e-19	54	283				
SYNGR3	9143	broad.mit.edu	37	16	2042719	2042719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042719G>A	ENST00000248121.2	+	3	578	c.420G>A	c.(418-420)acG>acA	p.T140T	SYNGR3_ENST00000562045.1_Missense_Mutation_p.R52H	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	140	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CGGCCACGACGCAGGCGGGGG	0.721																																						ENST00000562045.1																			0				endometrium(1)|lung(2)	3						c.(154-156)cGc>cAc		synaptogyrin 3							14.0	15.0	15.0					16																	2042719		2175	4262	6437	SO:0001819	synonymous_variant	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042719G>A	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.420G>A	16.37:g.2042719G>A						SYNGR3_ENST00000248121.2_Silent_p.T140T	p.R52H			O43761	SNG3_HUMAN			2	1171	+			0			MARVEL.		B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	c.155G>A	CCDS10456.1																																																																																				0.721	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			23	103	0	0	0	1	0	23	103				
DYRK1B	9149	broad.mit.edu	37	19	40316646	40316646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316646C>T	ENST00000593685.1	-	11	2067	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	DYRK1B_ENST00000430012.2_Silent_p.S493S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000323039.5_Silent_p.S533S|DYRK1B_ENST00000348817.3_Silent_p.S505S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	533					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CAGGCAGTGACGAGGCAGAGG	0.652																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1597-1599)tcG>tcA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							18.0	23.0	21.0					19																	40316646		2154	4237	6391	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316646C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1599G>A	19.37:g.40316646C>T						DYRK1B_ENST00000430012.2_Silent_p.S493S|DYRK1B_ENST00000323039.5_Silent_p.S533S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000348817.3_Silent_p.S505S	p.S533S			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2067	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		533					O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1599G>A	CCDS12543.1																																																																																				0.652	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		16	283	0	0	0	1	0	16	283				
ANO3	63982	broad.mit.edu	37	11	26619977	26619977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619977G>A	ENST00000256737.3	+	15	2365	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ANO3_ENST00000531568.1_Missense_Mutation_p.E359K|ANO3_ENST00000525139.1_Missense_Mutation_p.E489K|ANO3_ENST00000537978.1_Missense_Mutation_p.E489K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	505					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GGACCTTATCGAATGGGAAGA	0.393																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1513-1515)Gaa>Aaa		anoctamin 3							120.0	119.0	119.0					11																	26619977		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26619977G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1513G>A	11.37:g.26619977G>A	ENSP00000256737:p.Glu505Lys					ANO3_ENST00000537978.1_Missense_Mutation_p.E489K|ANO3_ENST00000525139.1_Missense_Mutation_p.E489K|ANO3_ENST00000531568.1_Missense_Mutation_p.E359K	p.E505K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			15	2365	+			505					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1513G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035474	0.75617	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.64	5.64	0.86602	.	0.046152	0.85682	D	0.000000	T	0.47469	0.1447	N	0.08118	0	0.53005	D	0.999965	B;B	0.20671	0.028;0.047	B;B	0.19391	0.01;0.025	T	0.44065	-0.9352	10	0.59425	D	0.04	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	407;505	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	489;489;505;407;359	ENSP00000440737:E489K;ENSP00000432576:E489K;ENSP00000256737:E505K;ENSP00000432394:E359K	ENSP00000256737:E505K	E	+	1	0	ANO3	26576553	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GAA		0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		81	382	0	0	0	1	0	81	382				
MALAT1	378938	broad.mit.edu	37	11	65272161	65272161	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65272161C>T	ENST00000534336.1	+	0	6929					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AAGAAACATTCCAAACAAGCA	0.378																																						ENST00000534336.1																			0																				64.0	63.0	63.0					11																	65272161		874	1988	2862			0							g.chr11:65272161C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272161C>T								NR_002819.2						0	6929	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.378	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		39	158	0	0	0	1	0	39	158				
TSHZ1	10194	broad.mit.edu	37	18	72999799	72999799	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999799A>G	ENST00000580243.1	+	2	2785	c.2437A>G	c.(2437-2439)Acc>Gcc	p.T813A	TSHZ1_ENST00000322038.5_Missense_Mutation_p.T768A			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	813					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CATTGACTTAACCAAGTCCAA	0.567																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2302-2304)Acc>Gcc		teashirt zinc finger homeobox 1							53.0	55.0	55.0					18																	72999799		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999799A>G	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2437A>G	18.37:g.72999799A>G	ENSP00000464391:p.Thr813Ala					TSHZ1_ENST00000580243.1_Missense_Mutation_p.T813A	p.T768A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2886	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	813					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.2302A>G		.	.	.	.	.	.	.	.	.	.	A	11.40	1.626961	0.28978	.	.	ENSG00000179981	ENST00000322038	T	0.53423	0.62	5.26	5.26	0.73747	.	0.052129	0.85682	D	0.000000	T	0.52092	0.1713	M	0.80422	2.495	0.46222	D	0.99893	P	0.43287	0.802	B	0.38616	0.277	T	0.63189	-0.6693	10	0.87932	D	0	-49.2603	15.1778	0.72927	1.0:0.0:0.0:0.0	.	813	Q6ZSZ6	TSH1_HUMAN	A	768	ENSP00000323584:T768A	ENSP00000323584:T768A	T	+	1	0	TSHZ1	71128787	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.817000	0.91985	2.466000	0.83321	0.561000	0.74099	ACC		0.567	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		68	337	0	0	0	1	0	68	337				
CDH18	1016	broad.mit.edu	37	5	19544089	19544089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19544089C>T	ENST00000507958.1	-	11	2269	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	CDH18_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N|CDH18_ENST00000502796.1_Missense_Mutation_p.D427N			Q13634	CAD18_HUMAN	cadherin 18, type 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATCTGTCGTCTTCAACATTG	0.348																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1279-1281)Gac>Aac		cadherin 18, type 2							101.0	95.0	97.0					5																	19544089		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19544089C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1279G>A	5.37:g.19544089C>T	ENSP00000425093:p.Asp427Asn					CDH18_ENST00000502796.1_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N|CDH18_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N	p.D427N			Q13634	CAD18_HUMAN			11	2269	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		427			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1279G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687736	0.29962	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;2.09;-0.05	5.44	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.455464	0.24516	N	0.037858	T	0.46288	0.1385	N	0.13043	0.29	0.32552	N	0.53228	B;B	0.24317	0.101;0.076	B;B	0.32022	0.139;0.088	T	0.52472	-0.8571	9	.	.	.	.	12.7735	0.57434	0.0:0.9203:0.0:0.0797	.	427;427	B4DHG6;Q13634	.;CAD18_HUMAN	N	427;427;427;427;427;427;373;427	ENSP00000371710:D427N;ENSP00000425093:D427N;ENSP00000274170:D427N;ENSP00000424931:D427N;ENSP00000422138:D427N;ENSP00000427383:D373N;ENSP00000425854:D427N	.	D	-	1	0	CDH18	19579846	1.000000	0.71417	0.929000	0.37066	0.596000	0.36781	4.798000	0.62510	1.312000	0.45043	0.591000	0.81541	GAC		0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		47	168	0	0	0	1	0	47	168				
ARHGAP32	9743	broad.mit.edu	37	11	128839218	128839218	+	Nonsense_Mutation	SNP	G	G	A	rs543689971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839218G>A	ENST00000310343.9	-	22	5847	c.5848C>T	c.(5848-5850)Cga>Tga	p.R1950*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1950	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACCCAGGGTCGCTCCATCTCT	0.517																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5848-5850)Cga>Tga		Rho GTPase activating protein 32							85.0	85.0	85.0					11																	128839218		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839218G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5848C>T	11.37:g.128839218G>A	ENSP00000310561:p.Arg1950*					ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000524655.1_3'UTR	p.R1950*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5847	-			1950			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.5848C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	41	8.648363	0.98899	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.95	0.409	0.16382	.	0.091682	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1038	0.53801	0.0641:0.0:0.5541:0.3818	.	.	.	.	X	1950;1601;1601	.	ENSP00000310561:R1950X	R	-	1	2	ARHGAP32	128344428	0.640000	0.27243	0.274000	0.24659	0.971000	0.66376	0.127000	0.15790	-0.184000	0.10567	0.655000	0.94253	CGA		0.517	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		116	417	0	0	0	1	0	116	417				
ZFYVE16	9765	broad.mit.edu	37	5	79733552	79733552	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79733552G>T	ENST00000338008.5	+	3	1228	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	350					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAAAAGTTTAGACCTTAAGGA	0.368																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1048-1050)Gac>Tac		zinc finger, FYVE domain containing 16							115.0	110.0	112.0					5																	79733552		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79733552G>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1048G>T	5.37:g.79733552G>T	ENSP00000337159:p.Asp350Tyr					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y	p.D350Y	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	1228	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	350					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.1048G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173172	0.21704	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.43294	0.95;0.95;0.95	5.1	4.21	0.49690	.	0.363134	0.23307	N	0.049620	T	0.45357	0.1338	L	0.34521	1.04	0.09310	N	1	P;D	0.67145	0.944;0.996	P;P	0.59703	0.835;0.862	T	0.24799	-1.0150	10	0.52906	T	0.07	-0.1643	8.6938	0.34282	0.0835:0.1541:0.7624:0.0	.	350;350	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	Y	350	ENSP00000337159:D350Y;ENSP00000423663:D350Y;ENSP00000426848:D350Y	ENSP00000337159:D350Y	D	+	1	0	ZFYVE16	79769308	0.641000	0.27251	0.025000	0.17156	0.104000	0.19210	1.474000	0.35398	1.229000	0.43630	0.563000	0.77884	GAC		0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		89	322	1	0	1.42074e-37	1	1.70676e-37	89	322				
ERO1LB	56605	broad.mit.edu	37	1	236415367	236415367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236415367C>T	ENST00000354619.5	-	4	532	c.331G>A	c.(331-333)Gct>Act	p.A111T	ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	111					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	GAATGCCCAGCTTTTATTCCA	0.323																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(331-333)Gct>Act		ERO1-like beta (S. cerevisiae)							103.0	104.0	104.0					1																	236415367		2203	4300	6503	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236415367C>T	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.331G>A	1.37:g.236415367C>T	ENSP00000346635:p.Ala111Thr					ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	p.A111T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	532	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	111					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.331G>A	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925860	0.73213	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	D;T	0.82081	-1.57;0.93	5.77	5.77	0.91146	.	0.054456	0.85682	D	0.000000	D	0.83801	0.5333	L	0.41824	1.3	0.49130	D	0.999751	P;B	0.52842	0.956;0.1	P;B	0.53006	0.715;0.155	T	0.80118	-0.1516	10	0.22706	T	0.39	-16.869	18.7696	0.91885	0.0:1.0:0.0:0.0	.	111;111	B4DF57;Q86YB8	.;ERO1B_HUMAN	T	111	ENSP00000346635:A111T;ENSP00000377574:A111T	ENSP00000377574:A111T	A	-	1	0	ERO1LB	234481990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.684000	0.54671	2.729000	0.93468	0.655000	0.94253	GCT		0.323	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		77	249	0	0	0	1	0	77	249				
SDK2	54549	broad.mit.edu	37	17	71364628	71364628	+	Silent	SNP	G	G	T	rs146100082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71364628G>T	ENST00000392650.3	-	37	5085	c.5085C>A	c.(5083-5085)gcC>gcA	p.A1695A	SDK2_ENST00000388726.3_Silent_p.A1676A|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1695	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGACCATGTAGGCCGTGTAGC	0.632																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(5083-5085)gcC>gcA		sidekick cell adhesion molecule 2							60.0	45.0	50.0					17																	71364628		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71364628G>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5085C>A	17.37:g.71364628G>T						SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1676A	p.A1695A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			37	5085	-			1695			Fibronectin type-III 11.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.5085C>A	CCDS45769.1																																																																																				0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		9	75	1	0	3.86212e-05	1	3.93988e-05	9	75				
HGD	3081	broad.mit.edu	37	3	120365164	120365164	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120365164A>G	ENST00000283871.5	-	9	1058	c.599T>C	c.(598-600)aTc>aCc	p.I200T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	200					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GACCTCCAAGATGTAGCCCCT	0.478																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(598-600)aTc>aCc		homogentisate 1,2-dioxygenase							134.0	123.0	127.0					3																	120365164		2203	4300	6503	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365164A>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.599T>C	3.37:g.120365164A>G	ENSP00000283871:p.Ile200Thr						p.I200T	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	1058	-			200					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.599T>C	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968412|3.968412	0.74131|0.74131	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000283871|ENST00000475447;ENST00000494453	D|.	0.99259|.	-5.64|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Cupin, RmlC-type (1);|.	0.155094|.	0.56097|.	D|.	0.000028|.	T|T	0.80215|0.80215	0.4582|0.4582	M|M	0.89414|0.89414	3.03|3.03	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.50443|.	0.935|.	D|.	0.71414|.	0.973|.	D|D	0.83610|0.83610	0.0133|0.0133	10|5	0.87932|.	D|.	0|.	-4.2769|-4.2769	13.9693|13.9693	0.64230|0.64230	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	200|.	Q93099|.	HGD_HUMAN|.	T|P	200|44;7	ENSP00000283871:I200T|.	ENSP00000283871:I200T|.	I|S	-|-	2|1	0|0	HGD|HGD	121847854|121847854	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.763000|0.763000	0.43281|0.43281	8.353000|8.353000	0.90077|0.90077	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	ATC|TCT		0.478	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			61	306	0	0	0	1	0	61	306				
PRG4	10216	broad.mit.edu	37	1	186277618	186277618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277618G>A	ENST00000445192.2	+	7	2812	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	PRG4_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367484.3_Missense_Mutation_p.D452N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367483.4_Missense_Mutation_p.D882N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	923					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACAGAAAGAGACTTACGTAC	0.413																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2767-2769)Gac>Aac		proteoglycan 4							213.0	218.0	217.0					1																	186277618		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277618G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2767G>A	1.37:g.186277618G>A	ENSP00000399679:p.Asp923Asn					PRG4_ENST00000367484.3_Missense_Mutation_p.D452N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367483.4_Missense_Mutation_p.D882N	p.D923N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2812	+			923					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2767G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038064	0.19669	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05319	3.46;3.52;3.58;3.47;3.58	3.13	0.853	0.19001	.	0.804728	0.10377	U	0.681971	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44659	0.84;0.84;0.753;0.84	P;P;B;P	0.50314	0.637;0.637;0.433;0.637	T	0.34700	-0.9818	10	0.15499	T	0.54	.	3.6248	0.08109	0.2757:0.0:0.536:0.1882	.	789;830;923;882	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	880;452;789;882;830;923	ENSP00000356456:D880N;ENSP00000356454:D452N;ENSP00000356453:D882N;ENSP00000356455:D830N;ENSP00000399679:D923N	ENSP00000356452:D789N	D	+	1	0	PRG4	184544241	0.000000	0.05858	0.654000	0.29608	0.191000	0.23601	-0.096000	0.11059	0.311000	0.23014	0.423000	0.28283	GAC		0.413	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		168	517	0	0	0	1	0	168	517				
AHCTF1	25909	broad.mit.edu	37	1	247013154	247013154	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013154T>C	ENST00000391829.2	-	33	6277	c.6154A>G	c.(6154-6156)Act>Gct	p.T2052A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.T2087A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2052	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGACTTTCAGTCTTTTTTGTA	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6259-6261)Act>Gct		AT hook containing transcription factor 1							180.0	159.0	166.0					1																	247013154		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013154T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6154A>G	1.37:g.247013154T>C	ENSP00000375705:p.Thr2052Ala					AHCTF1_ENST00000391829.2_Missense_Mutation_p.T2052A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A	p.T2087A			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6395	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2052			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6259A>G		.	.	.	.	.	.	.	.	.	.	T	4.100	0.016618	0.07959	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.30448	1.53;1.53;1.53	5.84	0.298	0.15766	.	0.749491	0.12556	N	0.458613	T	0.23410	0.0566	L	0.54323	1.7	0.09310	N	1	B;B	0.29988	0.264;0.172	B;B	0.28011	0.085;0.039	T	0.28038	-1.0056	10	0.16420	T	0.52	-2.1585	6.8913	0.24230	0.5443:0.068:0.0:0.3877	.	2087;2052	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	2087;2061;2052	ENSP00000355464:T2087A;ENSP00000355465:T2061A;ENSP00000375705:T2052A	ENSP00000355465:T2061A	T	-	1	0	AHCTF1	245079777	0.000000	0.05858	0.023000	0.16930	0.003000	0.03518	-0.072000	0.11486	-0.215000	0.10063	-0.266000	0.10368	ACT		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		9	565	0	0	0	1	0	9	565				
NOTCH4	4855	broad.mit.edu	37	6	32190387	32190387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190387G>A	ENST00000375023.3	-	3	490	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	118	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTCTTCAAGCTTGGCCTGG	0.627																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(352-354)Ctt>Ttt		notch 4							65.0	69.0	67.0					6																	32190387		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32190387G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.352C>T	6.37:g.32190387G>A	ENSP00000364163:p.Leu118Phe						p.L118F	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			3	490	-			118			EGF-like 3.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.352C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	4.988	0.183465	0.09495	.	.	ENSG00000204301	ENST00000375023	D	0.81996	-1.56	4.14	3.27	0.37495	Epidermal growth factor-like, type 3 (1);	0.000000	0.38058	N	0.001823	T	0.67277	0.2876	L	0.38175	1.15	0.09310	N	0.999999	D;P	0.56035	0.974;0.846	P;B	0.50136	0.632;0.157	T	0.60652	-0.7221	10	0.45353	T	0.12	.	7.1824	0.25780	0.0:0.1898:0.614:0.1962	.	118;118	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	118	ENSP00000364163:L118F	ENSP00000364163:L118F	L	-	1	0	NOTCH4	32298365	0.000000	0.05858	0.046000	0.18839	0.067000	0.16453	0.693000	0.25497	0.963000	0.38082	-0.219000	0.12488	CTT		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			88	393	0	0	0	1	0	88	393				
REM2	161253	broad.mit.edu	37	14	23354091	23354091	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354091G>T	ENST00000267396.4	+	2	435	c.312G>T	c.(310-312)ggG>ggT	p.G104G	REM2_ENST00000536884.1_Silent_p.G104G	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	104					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TGGGCTCAGGGGAGGCAGCCC	0.617																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(310-312)ggG>ggT		RAS (RAD and GEM)-like GTP binding 2							43.0	48.0	46.0					14																	23354091		2174	4280	6454	SO:0001819	synonymous_variant	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354091G>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.312G>T	14.37:g.23354091G>T						REM2_ENST00000536884.1_Silent_p.G104G	p.G104G	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	435	+	all_cancers(95;4.69e-05)		104					B7Z5P1|Q8N8R8	Silent	SNP	ENST00000267396.4	37	c.312G>T	CCDS45082.1																																																																																				0.617	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		53	259	1	0	9.57592e-29	1	1.11608e-28	53	259				
PMS2	5395	broad.mit.edu	37	7	6017315	6017315	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017315G>A	ENST00000265849.7	-	14	2454	c.2349C>T	c.(2347-2349)gtC>gtT	p.V783V	PMS2_ENST00000406569.3_Missense_Mutation_p.S570L|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000441476.2_Silent_p.V677V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	783					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAGTTCATCGACGTCCTGGG	0.498			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406569.3			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1708-1710)tCg>tTg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							94.0	75.0	81.0					7																	6017315		2195	4284	6479	SO:0001819	synonymous_variant	5395	Turcot 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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6017315G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2349C>T	7.37:g.6017315G>A						PMS2_ENST00000265849.7_Silent_p.V783V|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000441476.2_Silent_p.V677V	p.S570L			P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	12	1708	-		Ovarian(82;0.0694)	0					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1709C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608084	0.28623	.	.	ENSG00000122512	ENST00000406569	D	0.85861	-2.04	5.75	-1.52	0.08637	.	.	.	.	.	T	0.77844	0.4191	.	.	.	0.80722	D	1	B	0.26708	0.157	B	0.19391	0.025	T	0.63686	-0.6581	8	0.30078	T	0.28	-7.0862	16.6672	0.85256	0.0:0.0:0.5913:0.4087	.	570	P54278-3	.	L	570	ENSP00000384308:S570L	ENSP00000384308:S570L	S	-	2	0	PMS2	5983841	0.905000	0.30787	0.984000	0.44739	0.615000	0.37417	-0.059000	0.11731	-0.473000	0.06871	-0.442000	0.05670	TCG		0.498	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		70	542	0	0	0	1	0	70	542				
FGF14	2259	broad.mit.edu	37	13	102568890	102568890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568890T>G	ENST00000376143.4	-	1	105	c.106A>C	c.(106-108)Aac>Cac	p.N36H	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	36					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCCGCGGTTCTTGCTGGGG	0.672																																						ENST00000376143.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(106-108)Aac>Cac		fibroblast growth factor 14							37.0	34.0	35.0					13																	102568890		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102568890T>G		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.106A>C	13.37:g.102568890T>G	ENSP00000365313:p.Asn36His					FGF14_ENST00000376131.4_Intron	p.N36H	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN			1	105	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		36					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.106A>C	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274869	0.59649	.	.	ENSG00000102466	ENST00000376143	T	0.77358	-1.09	5.28	4.02	0.46733	.	.	.	.	.	T	0.66934	0.2840	L	0.34521	1.04	0.38969	D	0.958714	B	0.33073	0.396	B	0.32022	0.139	T	0.70245	-0.4925	9	0.48119	T	0.1	.	11.5774	0.50869	0.0:0.0:0.1492:0.8508	.	36	Q92915	FGF14_HUMAN	H	36	ENSP00000365313:N36H	ENSP00000365313:N36H	N	-	1	0	FGF14	101366891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.493000	0.60341	1.989000	0.58080	0.460000	0.39030	AAC		0.672	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			35	181	0	0	0	1	0	35	181				
CCDC40	55036	broad.mit.edu	37	17	78032362	78032362	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032362A>G	ENST00000397545.4	+	8	1256	c.1229A>G	c.(1228-1230)gAc>gGc	p.D410G	CCDC40_ENST00000374877.3_Missense_Mutation_p.D410G|CCDC40_ENST00000269318.5_Missense_Mutation_p.D410G|CCDC40_ENST00000374876.4_Missense_Mutation_p.D410G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	410					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCGACCAGGACATGCGTGAC	0.557																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1228-1230)gAc>gGc		coiled-coil domain containing 40							65.0	69.0	68.0					17																	78032362		2115	4235	6350	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78032362A>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1229A>G	17.37:g.78032362A>G	ENSP00000380679:p.Asp410Gly					CCDC40_ENST00000269318.5_Missense_Mutation_p.D410G|CCDC40_ENST00000374876.4_Missense_Mutation_p.D410G|CCDC40_ENST00000374877.3_Missense_Mutation_p.D410G	p.D410G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		8	1256	+	all_neural(118;0.167)		410					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1229A>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585639	0.46110	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.85339	0.66;-1.97;0.41;0.68	4.41	4.41	0.53225	.	.	.	.	.	D	0.91918	0.7441	M	0.80616	2.505	0.43890	D	0.996517	D;D;D	0.89917	1.0;0.993;0.989	D;P;P	0.77004	0.989;0.725;0.766	D	0.93076	0.6487	9	0.87932	D	0	-42.6986	13.9156	0.63895	1.0:0.0:0.0:0.0	.	410;410;193	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	G	410	ENSP00000364011:D410G;ENSP00000269318:D410G;ENSP00000364010:D410G;ENSP00000380679:D410G	ENSP00000269318:D410G	D	+	2	0	CCDC40	75646957	1.000000	0.71417	0.860000	0.33809	0.009000	0.06853	6.411000	0.73298	1.733000	0.51620	0.260000	0.18958	GAC		0.557	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		9	248	0	0	0	1	0	9	248				
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010800G>A	ENST00000435339.3	+	2	820	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R145Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463																																						ENST00000435339.2																			1	Substitution - Missense(1)	p.R145Q(1)	large_intestine(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(433-435)cGa>cAa		lysophosphatidic acid receptor 4							216.0	147.0	170.0					X																	78010800		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010800G>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.434G>A	X.37:g.78010800G>A	ENSP00000408205:p.Arg145Gln					LPAR4_ENST00000373301.2_Missense_Mutation_p.R145Q	p.R145Q	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	839	+			145					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.434G>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725257	0.68959	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.40756	1.02;1.02	4.21	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.074980	0.56097	N	0.000035	T	0.42630	0.1211	L	0.41906	1.305	0.45354	D	0.998343	D	0.56746	0.977	P	0.52066	0.689	T	0.27157	-1.0082	10	0.52906	T	0.07	.	9.927	0.41498	0.1045:0.0:0.8955:0.0	.	145	Q99677	LPAR4_HUMAN	Q	145	ENSP00000408205:R145Q;ENSP00000362398:R145Q	ENSP00000362398:R145Q	R	+	2	0	LPAR4	77897456	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	5.028000	0.64115	0.790000	0.33803	0.422000	0.28245	CGA		0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		102	358	0	0	0	1	0	102	358				
SP100	6672	broad.mit.edu	37	2	231406637	231406637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231406637C>T	ENST00000340126.4	+	28	2465	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCACAGAAGCCCATGTGGTT	0.458																																						ENST00000340126.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2434-2436)Ccc>Tcc		SP100 nuclear antigen							92.0	90.0	90.0					2																	231406637		1887	4114	6001	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231406637C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2434C>T	2.37:g.231406637C>T	ENSP00000343023:p.Pro812Ser					AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	p.P812S	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	28	2465	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	0					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2434C>T	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.06|14.06	2.421720|2.421720	0.43020|0.43020	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|D	.|0.82255	.|-1.59	4.13|4.13	-1.34|-1.34	0.09143|0.09143	.|.	.|.	.|.	.|.	.|.	T|T	0.79828|0.79828	0.4513|0.4513	M|M	0.74389|0.74389	2.26|2.26	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.20550	.|0.021;0.046	.|B;B	.|0.21360	.|0.012;0.034	T|T	0.69702|0.69702	-0.5074|-0.5074	5|9	.|0.62326	.|D	.|0.03	.|.	7.852|7.852	0.29459|0.29459	0.0:0.393:0.0:0.607|0.0:0.393:0.0:0.607	.|.	.|282;812	.|E9PHN1;P23497-4	.|.;.	V|S	185|812;282	.|ENSP00000343023:P812S	.|ENSP00000343023:P812S	A|P	+|+	2|1	0|0	SP100|SP100	231114881|231114881	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.073000|0.073000	0.16967|0.16967	0.029000|0.029000	0.13666|0.13666	-0.279000|-0.279000	0.09167|0.09167	-0.136000|-0.136000	0.14681|0.14681	GCC|CCC		0.458	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		54	250	0	0	0	1	0	54	250				
NOX5	79400	broad.mit.edu	37	15	69348991	69348991	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69348991C>T	ENST00000388866.3	+	16	2294	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	NOX5_ENST00000530406.2_Silent_p.G723G|NOX5_ENST00000260364.5_Silent_p.G733G|NOX5_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000448182.3_Silent_p.G705G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	751					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGAAGGGCCATTGTGAGA	0.537																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2197-2199)ggC>ggT		NADPH oxidase, EF-hand calcium binding domain 5							84.0	81.0	82.0					15																	69348991		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69348991C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2253C>T	15.37:g.69348991C>T						NOX5_ENST00000530406.2_Silent_p.G723G|NOX5_ENST00000448182.3_Silent_p.G705G|NOX5_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000388866.3_Silent_p.G751G	p.G733G			Q96PH1	NOX5_HUMAN			17	2500	+			751					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.2199C>T	CCDS32276.2																																																																																				0.537	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		67	239	0	0	0	1	0	67	239				
TMEM51	55092	broad.mit.edu	37	1	15541680	15541680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15541680C>A	ENST00000428417.1	+	2	543	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M|TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	33						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CATGTGGAACCTGGTACCCGG	0.622																																						ENST00000428417.1																			0				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14						c.(97-99)Ctg>Atg		transmembrane protein 51							125.0	129.0	127.0					1																	15541680		2203	4300	6503	SO:0001583	missense	55092					integral to membrane		g.chr1:15541680C>A	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.97C>A	1.37:g.15541680C>A	ENSP00000394899:p.Leu33Met					TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M|TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M	p.L33M	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	2	543	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	33					A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	c.97C>A	CCDS154.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584107	0.65992	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.43	5.43	0.79202	.	0.140331	0.51477	D	0.000095	T	0.54581	0.1867	M	0.64997	1.995	0.44677	D	0.997666	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.55970	-0.8056	10	0.66056	D	0.02	-1.3169	11.666	0.51374	0.0:0.9193:0.0:0.0807	.	33;33	Q9BSA0;Q9NW97	.;TMM51_HUMAN	M	33	ENSP00000394899:L33M;ENSP00000365182:L33M;ENSP00000412298:L33M;ENSP00000409665:L33M;ENSP00000383600:L33M;ENSP00000365176:L33M	ENSP00000303666:L33M	L	+	1	2	TMEM51	15414267	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.203000	0.32284	2.564000	0.86499	0.655000	0.94253	CTG		0.622	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		77	778	1	0	1.7488e-33	1	2.07287e-33	77	778				
CYP1A2	1544	broad.mit.edu	37	15	75044545	75044545	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044545A>G	ENST00000343932.4	+	5	1186	c.1123A>G	c.(1123-1125)Acc>Gcc	p.T375A		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	375					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CATCCTGGAGACCTTCCGACA	0.592																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1123-1125)Acc>Gcc		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						160.0	158.0	159.0					15																	75044545		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75044545A>G	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1123A>G	15.37:g.75044545A>G	ENSP00000342007:p.Thr375Ala						p.T375A	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			5	1186	+			375					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1123A>G	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280759	0.40294	.	.	ENSG00000140505	ENST00000343932	T	0.71222	-0.55	4.89	-0.271	0.12922	.	1.610040	0.03174	N	0.171130	T	0.67599	0.2910	M	0.68593	2.085	0.09310	N	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.46527	-0.9185	10	0.46703	T	0.11	.	5.8288	0.18568	0.4669:0.2617:0.2714:0.0	.	375	P05177-2	.	A	375	ENSP00000342007:T375A	ENSP00000342007:T375A	T	+	1	0	CYP1A2	72831598	0.048000	0.20356	0.690000	0.30148	0.986000	0.74619	0.048000	0.14078	-0.203000	0.10251	0.370000	0.22315	ACC		0.592	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		33	1071	0	0	0	1	0	33	1071				
ABCA12	26154	broad.mit.edu	37	2	215847042	215847042	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215847042A>G	ENST00000272895.7	-	30	4667	c.4448T>C	c.(4447-4449)aTg>aCg	p.M1483T	ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1483	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCTCTTCATGCCTCCTGA	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4447-4449)aTg>aCg		ATP-binding cassette, sub-family A (ABC1), member 12							169.0	154.0	159.0					2																	215847042		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215847042A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4448T>C	2.37:g.215847042A>G	ENSP00000272895:p.Met1483Thr					ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	p.M1483T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	30	4667	-		Renal(323;0.127)	1483			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4448T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151331	0.57151	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93811	-3.29;-3.29	5.65	5.65	0.86999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.066415	0.64402	D	0.000004	D	0.96125	0.8737	M	0.79123	2.44	0.80722	D	1	D;B	0.61697	0.99;0.2	P;B	0.61940	0.896;0.142	D	0.96337	0.9248	10	0.62326	D	0.03	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1483;1165	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1483;1165	ENSP00000272895:M1483T;ENSP00000374312:M1165T	ENSP00000272895:M1483T	M	-	2	0	ABCA12	215555287	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	ATG		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		90	450	0	0	0	1	0	90	450				
OGFOD2	79676	broad.mit.edu	37	12	123463318	123463318	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463318G>A	ENST00000228922.7	+	6	582	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|ARL6IP4_ENST00000412505.2_5'Flank|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.G124R|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	184							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GCACGAGCTCGGGCTGGACGA	0.662																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(370-372)Ggg>Agg		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						12.0	15.0	14.0					12																	123463318		2044	4189	6233	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463318G>A	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.550G>A	12.37:g.123463318G>A	ENSP00000228922:p.Gly184Arg					OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000228922.7_Missense_Mutation_p.G184R|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000542117.1_3'UTR	p.G124R	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	7	1109	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		184					B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.370G>A		.	.	.	.	.	.	.	.	.	.	G	20.4	3.979597	0.74360	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89196	-2.48;0.99	5.42	5.42	0.78866	Prolyl 4-hydroxylase, alpha subunit (1);	0.043908	0.85682	D	0.000000	D	0.95204	0.8445	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95366	0.8460	10	0.62326	D	0.03	-34.5298	19.2243	0.93812	0.0:0.0:1.0:0.0	.	184;124	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	124;20;20;20;20;20;20;20;184;20	ENSP00000380544:G124R;ENSP00000228922:G184R	ENSP00000228922:G184R	G	+	1	0	OGFOD2	122029271	1.000000	0.71417	0.927000	0.36925	0.189000	0.23516	8.018000	0.88722	2.539000	0.85634	0.561000	0.74099	GGG		0.662	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		7	156	0	0	0	1	0	7	156				
DBR1	51163	broad.mit.edu	37	3	137893465	137893465	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137893465T>C	ENST00000260803.4	-	1	326	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	58					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATGTGACGATACTTGGGCGG	0.687																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(172-174)tAt>tGt		debranching RNA lariats 1							29.0	25.0	27.0					3																	137893465		2202	4298	6500	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137893465T>C	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.173A>G	3.37:g.137893465T>C	ENSP00000260803:p.Tyr58Cys					DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	p.Y58C	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			1	326	-			58					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.173A>G	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837797	0.91117	.	.	ENSG00000138231	ENST00000260803	T	0.34667	1.35	5.26	5.26	0.73747	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81529	-0.0891	10	0.87932	D	0	-14.0475	13.1814	0.59657	0.0:0.0:0.0:1.0	.	58	Q9UK59	DBR1_HUMAN	C	58	ENSP00000260803:Y58C	ENSP00000260803:Y58C	Y	-	2	0	DBR1	139376155	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.523000	0.81856	2.213000	0.71641	0.455000	0.32223	TAT		0.687	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			23	72	0	0	0	1	0	23	72				
TP53BP1	7158	broad.mit.edu	37	15	43705430	43705430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43705430T>G	ENST00000263801.3	-	24	5429	c.5177A>C	c.(5176-5178)aAg>aCg	p.K1726T	TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1726	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AAACAAGGTCTTGTTGAGAGG	0.562								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5176-5178)aAg>aCg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							106.0	87.0	93.0					15																	43705430		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43705430T>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5177A>C	15.37:g.43705430T>G	ENSP00000263801:p.Lys1726Thr					TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T	p.K1726T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	24	5429	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1726			BRCT 1.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5177A>C	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392771	0.83011	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	6.03	6.03	0.97812	BRCT (3);	0.159621	0.56097	D	0.000022	D	0.91845	0.7419	L	0.54323	1.7	0.48185	D	0.999607	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.91443	0.5175	10	0.45353	T	0.12	-18.3041	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1726;1731;1729	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	T	1726;1731;1681;1729	ENSP00000263801:K1726T;ENSP00000371475:K1731T;ENSP00000371470:K1681T;ENSP00000393497:K1729T	ENSP00000263801:K1726T	K	-	2	0	TP53BP1	41492722	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.259000	0.51515	2.308000	0.77769	0.533000	0.62120	AAG		0.562	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			42	190	0	0	0	1	0	42	190				
LRRC37A3	374819	broad.mit.edu	37	17	62856945	62856945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62856945G>A	ENST00000584306.1	-	11	3849	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*|LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1107						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGTCTAGCTGCTCACTCCCA	0.463																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3319-3321)Cag>Tag		leucine rich repeat containing 37, member A3							277.0	280.0	279.0					17																	62856945		2203	4300	6503	SO:0001587	stop_gained	374819					integral to membrane		g.chr17:62856945G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3319C>T	17.37:g.62856945G>A	ENSP00000464535:p.Gln1107*					LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*|LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*	p.Q1107*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	3849	-			1107					Q49A01|Q49A80|Q8NB33	Nonsense_Mutation	SNP	ENST00000584306.1	37	c.3319C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	40	8.010885	0.98607	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	.	.	.	2.46	0.0936	0.14477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.8545	0.05568	0.1715:0.0:0.544:0.2844	.	.	.	.	X	188;145;84;1107	.	ENSP00000325713:Q1107X	Q	-	1	0	LRRC37A3	60287407	0.008000	0.16893	0.003000	0.11579	0.190000	0.23558	0.579000	0.23788	-0.078000	0.12730	0.298000	0.19748	CAG		0.463	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		237	1261	0	0	0	1	0	237	1261				
TRAV10	28676	broad.mit.edu	37	14	22294121	22294121	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22294121G>A	ENST00000390432.2	+	0	261									T cell receptor alpha variable 10																		CTTTCAGTGAGAACACAAAGT	0.468																																						ENST00000390432.2																			0																				116.0	114.0	115.0					14																	22294121		2064	4197	6261			0							g.chr14:22294121G>A	AE000659		14q11.2	2012-02-07			ENSG00000211784	ENSG00000211784		"""T cell receptors / TRA locus"""	12103	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV10S1, TCRAV24S1			OTTHUMG00000168988		14.37:g.22294121G>A														0	261	+									RNA	SNP	ENST00000390432.2	37																																																																																						0.468	TRAV10-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401886.1	NG_001332		91	381	0	0	0	1	0	91	381				
EP300	2033	broad.mit.edu	37	22	41572357	41572357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41572357C>T	ENST00000263253.7	+	30	6105	c.4886C>T	c.(4885-4887)gCg>gTg	p.A1629V	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1629	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.A1629V(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGTCGGGATGCGTTTCTCACG	0.582			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		2	Substitution - Missense(2)	p.A1629V(2)	large_intestine(1)|endometrium(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4885-4887)gCg>gTg		E1A binding protein p300							119.0	100.0	106.0					22																	41572357		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41572357C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4886C>T	22.37:g.41572357C>T	ENSP00000263253:p.Ala1629Val					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.A1629V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			30	6105	+			1629			Binding region for E1A adenovirus.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4886C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602581	0.66445	.	.	ENSG00000100393	ENST00000263253	D	0.86366	-2.11	5.03	5.03	0.67393	.	0.000000	0.48286	D	0.000193	D	0.94801	0.8321	M	0.90252	3.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.95684	0.8734	10	0.87932	D	0	-8.2919	18.7274	0.91718	0.0:1.0:0.0:0.0	.	1629	Q09472	EP300_HUMAN	V	1629	ENSP00000263253:A1629V	ENSP00000263253:A1629V	A	+	2	0	EP300	39902303	1.000000	0.71417	0.990000	0.47175	0.701000	0.40568	7.818000	0.86416	2.500000	0.84329	0.650000	0.86243	GCG		0.582	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		112	444	0	0	0	1	0	112	444				
ESYT1	23344	broad.mit.edu	37	12	56536096	56536096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56536096G>A	ENST00000394048.5	+	25	2884	c.2620G>A	c.(2620-2622)Ggc>Agc	p.G874S	ESYT1_ENST00000541590.1_Missense_Mutation_p.G884S|ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	874	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTGCTGGGCTCATTATC	0.562																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2620-2622)Ggc>Agc		extended synaptotagmin-like protein 1							123.0	110.0	114.0					12																	56536096		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56536096G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2620G>A	12.37:g.56536096G>A	ENSP00000377612:p.Gly874Ser					ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S|ESYT1_ENST00000541590.1_Missense_Mutation_p.G884S|ESYT1_ENST00000550878.1_Intron	p.G874S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			25	2884	+			874			C2 4.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2620G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813855	0.70912	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.94862	-3.54;-3.54;-3.54	4.55	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.84773	2.715	0.80722	D	1	D;P	0.61080	0.989;0.714	P;P	0.57960	0.83;0.669	D	0.97190	0.9857	10	0.87932	D	0	-22.2159	15.2067	0.73183	0.0:0.0:1.0:0.0	.	884;874	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	S	874;828;884;884	ENSP00000377612:G874S;ENSP00000267113:G884S;ENSP00000445952:G884S	ENSP00000267113:G884S	G	+	1	0	ESYT1	54822363	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	5.961000	0.70356	2.537000	0.85549	0.561000	0.74099	GGC		0.562	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		30	717	0	0	0	1	0	30	717				
PCYOX1L	78991	broad.mit.edu	37	5	148742307	148742307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148742307C>T	ENST00000274569.4	+	2	258	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	66					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGCCGCTTGGCCAC	0.612																																					Ovarian(62;1136 1477 27277 27495)	ENST00000274569.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(196-198)Cgc>Tgc		prenylcysteine oxidase 1 like							103.0	107.0	106.0					5																	148742307		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148742307C>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.196C>T	5.37:g.148742307C>T	ENSP00000274569:p.Arg66Cys					PCYOX1L_ENST00000514349.1_5'UTR	p.R66C	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	258	+			66					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.196C>T	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884128	0.51908	.	.	ENSG00000145882	ENST00000274569	T	0.15834	2.39	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48019	-0.9071	10	0.87932	D	0	-20.8276	19.1631	0.93543	0.0:1.0:0.0:0.0	.	66	Q8NBM8	PCYXL_HUMAN	C	66	ENSP00000274569:R66C	ENSP00000274569:R66C	R	+	1	0	PCYOX1L	148722500	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.877000	0.69675	2.596000	0.87737	0.561000	0.74099	CGC		0.612	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		63	702	0	0	0	1	0	63	702				
SHROOM4	57477	broad.mit.edu	37	X	50376791	50376791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50376791G>T	ENST00000289292.7	-	4	2565	c.2282C>A	c.(2281-2283)gCt>gAt	p.A761D	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A761D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A645D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	761					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATCCTCCCCAGCTTGAGCAGT	0.478																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2281-2283)gCt>gAt		shroom family member 4							55.0	54.0	54.0					X																	50376791		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376791G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2282C>A	X.37:g.50376791G>T	ENSP00000289292:p.Ala761Asp					SHROOM4_ENST00000289292.7_Missense_Mutation_p.A761D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A645D	p.A761D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	2307	-	Ovarian(276;0.236)		761					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2282C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	9.913	1.210131	0.22289	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88201	-2.35;-2.35;-2.35	5.74	4.88	0.63580	.	0.306844	0.30556	N	0.009371	T	0.79221	0.4409	L	0.32530	0.975	0.37514	D	0.917255	P	0.42409	0.779	B	0.32289	0.143	T	0.79596	-0.1738	10	0.44086	T	0.13	.	8.4126	0.32653	0.0831:0.0:0.7634:0.1535	.	761	Q9ULL8	SHRM4_HUMAN	D	761;761;645	ENSP00000289292:A761D;ENSP00000365188:A761D;ENSP00000421450:A645D	ENSP00000289292:A761D	A	-	2	0	SHROOM4	50393531	0.450000	0.25697	0.993000	0.49108	0.783000	0.44284	1.445000	0.35079	1.182000	0.42928	0.600000	0.82982	GCT		0.478	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		89	301	1	0	1.51503e-27	1	1.75539e-27	89	301				
UNC13C	440279	broad.mit.edu	37	15	54556523	54556523	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54556523G>A	ENST00000260323.11	+	8	3606	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	UNC13C_ENST00000545554.1_Silent_p.Q1202Q|UNC13C_ENST00000537900.1_Silent_p.Q1200Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1202					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTTGTGCAGTTTACAAAGG	0.358																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3604-3606)caG>caA		unc-13 homolog C (C. elegans)							41.0	40.0	40.0					15																	54556523		1804	4061	5865	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54556523G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3606G>A	15.37:g.54556523G>A						UNC13C_ENST00000537900.1_Silent_p.Q1200Q|UNC13C_ENST00000260323.11_Silent_p.Q1202Q	p.Q1202Q			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	8	3606	+			1202					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3606G>A	CCDS45264.1																																																																																				0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		10	53	0	0	0	1	0	10	53				
ARHGAP29	9411	broad.mit.edu	37	1	94643259	94643259	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643259C>T	ENST00000260526.6	-	22	2996	c.2814G>A	c.(2812-2814)gaG>gaA	p.E938E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	938					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGCTTTCACTCTCTGAAGTAT	0.333																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2812-2814)gaG>gaA		Rho GTPase activating protein 29							114.0	107.0	110.0					1																	94643259		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94643259C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2814G>A	1.37:g.94643259C>T						ARHGAP29_ENST00000482481.1_5'UTR	p.E938E	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	22	2996	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	938					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.2814G>A	CCDS748.1																																																																																				0.333	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		23	228	0	0	0	1	0	23	228				
CCDC87	55231	broad.mit.edu	37	11	66359860	66359860	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66359860G>T	ENST00000333861.3	-	1	694	c.627C>A	c.(625-627)atC>atA	p.I209I	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	209					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAGGCCAGGGGATAGGGCACA	0.602																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(625-627)atC>atA		coiled-coil domain containing 87							63.0	50.0	54.0					11																	66359860		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359860G>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.627C>A	11.37:g.66359860G>T							p.I209I	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	694	-			209					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.627C>A	CCDS8145.1																																																																																				0.602	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		23	221	1	0	4.54149e-19	1	5.05721e-19	23	221				
MEGF8	1954	broad.mit.edu	37	19	42858175	42858175	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42858175C>T	ENST00000251268.6	+	22	4010	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	MEGF8_ENST00000334370.4_Splice_Site_p.T1270M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1337	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACCCCCTGCACGGTGAGCACT	0.622																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e21+1		multiple EGF-like-domains 8																																				SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42858175C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4011+1C>T	19.37:g.42858175C>T						MEGF8_ENST00000251268.6_Splice_Site_p.T1337_splice	p.T1270_splice	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			21	4444	+		Prostate(69;0.00682)	1337			CUB 2.		A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37	c.3810_splice		.	.	.	.	.	.	.	.	.	.	C	18.26	3.584624	0.65992	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.29917	1.55;1.55	4.81	4.81	0.61882	CUB (1);	0.147023	0.44688	D	0.000436	T	0.45756	0.1358	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.951;0.997	T	0.41858	-0.9485	10	0.56958	D	0.05	-9.1631	16.8144	0.85729	0.0:1.0:0.0:0.0	.	1337;1270	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	M	1270;1337	ENSP00000334219:T1270M;ENSP00000251268:T1337M	ENSP00000251268:T1337M	T	+	2	0	MEGF8	47550015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.297000	0.43593	2.500000	0.84329	0.655000	0.94253	ACG		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Missense_Mutation	9	29	0	0	0	1	0	9	29				
PPP1R26	9858	broad.mit.edu	37	9	138379085	138379085	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138379085G>T	ENST00000356818.2	+	4	3278	c.2729G>T	c.(2728-2730)aGc>aTc	p.S910I	PPP1R26_ENST00000401470.3_Missense_Mutation_p.S910I|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.S910I	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	910					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGCACAGAGAGCGCAGGAGCA	0.706																																						ENST00000356818.2																			0											c.(2728-2730)aGc>aTc		protein phosphatase 1, regulatory subunit 26							35.0	43.0	41.0					9																	138379085		2095	4091	6186	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379085G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2729G>T	9.37:g.138379085G>T	ENSP00000349274:p.Ser910Ile					PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000605286.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S910I|PPP1R26_ENST00000401470.3_Missense_Mutation_p.S910I	p.S910I	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3278	+			910					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2729G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489394	0.44249	.	.	ENSG00000196422	ENST00000356818	T	0.10099	2.91	4.33	2.05	0.26809	.	0.874319	0.09781	N	0.756616	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	P	0.35982	0.531	B	0.34242	0.178	T	0.33394	-0.9870	10	0.51188	T	0.08	-4.4148	8.6767	0.34183	0.2301:0.0:0.7699:0.0	.	910	Q5T8A7	PPR26_HUMAN	I	910	ENSP00000349274:S910I	ENSP00000349274:S910I	S	+	2	0	KIAA0649	137518906	0.001000	0.12720	0.006000	0.13384	0.063000	0.16089	0.447000	0.21710	0.807000	0.34208	0.462000	0.41574	AGC		0.706	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		128	448	1	0	1.95558e-62	1	2.46474e-62	128	448				
GUSB	2990	broad.mit.edu	37	7	65444521	65444521	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65444521T>C	ENST00000304895.4	-	4	719	c.589A>G	c.(589-591)Aag>Gag	p.K197E	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.K197E	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	197					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAGTAACCCTTGGGATACCTA	0.547																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(589-591)Aag>Gag		glucuronidase, beta							94.0	93.0	93.0					7																	65444521		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65444521T>C	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.589A>G	7.37:g.65444521T>C	ENSP00000302728:p.Lys197Glu					GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.K197E|GUSB_ENST00000476486.1_5'UTR	p.K197E	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			4	719	-			197					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.589A>G	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846587	0.51164	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.94758	-3.51;-3.51	5.27	5.27	0.74061	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.343573	0.36034	N	0.002824	D	0.89213	0.6651	N	0.25332	0.735	0.33520	D	0.592243	B	0.14438	0.01	B	0.12156	0.007	D	0.86877	0.2039	10	0.14656	T	0.56	.	14.4435	0.67333	0.0:0.0:0.0:1.0	.	197	P08236	BGLR_HUMAN	E	197	ENSP00000302728:K197E;ENSP00000340734:K197E	ENSP00000302728:K197E	K	-	1	0	GUSB	65081956	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	2.694000	0.47035	1.995000	0.58328	0.454000	0.30748	AAG		0.547	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		11	406	0	0	0	1	0	11	406				
SCN5A	6331	broad.mit.edu	37	3	38616790	38616790	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38616790G>T	ENST00000333535.4	-	20	3813	c.3664C>A	c.(3664-3666)Ctg>Atg	p.L1222M	SCN5A_ENST00000413689.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1222					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGGTACCAGCGCTCCACTG	0.587																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3664-3666)Ctg>Atg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						37.0	39.0	38.0					3																	38616790		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38616790G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3664C>A	3.37:g.38616790G>T	ENSP00000328968:p.Leu1222Met					SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000333535.4_Missense_Mutation_p.L1222M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M	p.L1222M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	20	3857	-	Medulloblastoma(35;0.163)		1222					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3664C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900162	0.72754	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49	4.21	4.21	0.49690	.	0.165085	0.41938	D	0.000789	D	0.98704	0.9565	M	0.86268	2.805	0.47476	D	0.999433	D;D;P;P;D;D;D	0.76494	0.991;0.994;0.942;0.699;0.999;0.998;0.983	D;P;P;B;D;D;P	0.77557	0.972;0.832;0.805;0.425;0.974;0.99;0.865	D	0.99647	1.0990	10	0.87932	D	0	.	16.7305	0.85433	0.0:0.0:1.0:0.0	.	1168;1221;1222;1222;1222;1221;1222	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1222;1221;1222;1168;1221;1222;1222;1221;1168;1168	ENSP00000398962:L1222M;ENSP00000398266:L1221M;ENSP00000410257:L1222M;ENSP00000388797:L1168M;ENSP00000397915:L1221M;ENSP00000416634:L1222M;ENSP00000328968:L1222M;ENSP00000399524:L1221M;ENSP00000403355:L1168M;ENSP00000413996:L1168M	ENSP00000328968:L1222M	L	-	1	2	SCN5A	38591794	1.000000	0.71417	0.938000	0.37757	0.987000	0.75469	6.586000	0.74067	2.356000	0.79943	0.655000	0.94253	CTG		0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		12	66	1	0	6.72482e-11	1	7.15107e-11	12	66				
UBR4	23352	broad.mit.edu	37	1	19525329	19525329	+	Missense_Mutation	SNP	C	C	T	rs200832235	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19525329C>T	ENST00000375254.3	-	4	499	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	UBR4_ENST00000375226.2_Missense_Mutation_p.A158T|UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375267.2_Missense_Mutation_p.A158T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	158					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGCTTGGCGGATTTCATC	0.468													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17479	0.0		0.0	False		,,,				2504	0.0					ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(472-474)Gcc>Acc		ubiquitin protein ligase E3 component n-recognin 4		C	THR/ALA	0,4406		0,0,2203	141.0	140.0	140.0		472	5.4	1.0	1		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBR4	NM_020765.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	158/5184	19525329	1,13005	2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19525329C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.472G>A	1.37:g.19525329C>T	ENSP00000364403:p.Ala158Thr					UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375226.2_Missense_Mutation_p.A158T|UBR4_ENST00000375254.3_Missense_Mutation_p.A158T	p.A158T			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	4	475	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	158					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.472G>A	CCDS189.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.2	4.384119	0.82792	0.0	1.16E-4	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.28255	1.64;1.63;1.62;1.62	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.38175	1.15	0.80722	D	1	P	0.43431	0.807	B	0.26614	0.071	T	0.06356	-1.0831	10	0.66056	D	0.02	.	12.8274	0.57726	0.1632:0.8367:0.0:0.0	.	158	Q5T4S7	UBR4_HUMAN	T	158	ENSP00000364403:A158T;ENSP00000364416:A158T;ENSP00000364365:A158T;ENSP00000364374:A158T	ENSP00000364365:A158T	A	-	1	0	UBR4	19397916	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	5.885000	0.69736	2.536000	0.85505	0.563000	0.77884	GCC		0.468	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		45	487	0	0	0	1	0	45	487				
PIGB	9488	broad.mit.edu	37	15	55613553	55613553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55613553C>A	ENST00000164305.5	+	3	673	c.382C>A	c.(382-384)Ctt>Att	p.L128I	RP11-139H15.1_ENST00000436697.2_RNA|RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000565225.1_RNA|RP11-139H15.1_ENST00000567948.1_RNA|PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	128					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTACAAGATTCTTCATCTTTT	0.338																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(382-384)Ctt>Att		phosphatidylinositol glycan anchor biosynthesis, class B							88.0	83.0	84.0					15																	55613553		1817	4077	5894	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55613553C>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.382C>A	15.37:g.55613553C>A	ENSP00000164305:p.Leu128Ile					PIGB_ENST00000539642.1_Intron	p.L128I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	3	673	+			128					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.382C>A		.	.	.	.	.	.	.	.	.	.	C	17.14	3.314419	0.60524	.	.	ENSG00000069943	ENST00000164305	T	0.66638	-0.22	4.77	3.85	0.44370	.	0.000000	0.64402	D	0.000003	T	0.78984	0.4370	M	0.80183	2.485	0.80722	D	1	D	0.65815	0.995	D	0.68943	0.961	T	0.78981	-0.1989	10	0.49607	T	0.09	-8.4769	9.1361	0.36875	0.0:0.9004:0.0:0.0996	.	128	Q92521	PIGB_HUMAN	I	128	ENSP00000164305:L128I	ENSP00000164305:L128I	L	+	1	0	PIGB	53400845	0.924000	0.31332	0.999000	0.59377	0.980000	0.70556	0.935000	0.28924	1.223000	0.43536	0.650000	0.86243	CTT		0.338	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		13	60	1	0	1.49906e-05	1	1.53515e-05	13	60				
P2RY13	53829	broad.mit.edu	37	3	151046196	151046196	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046196A>C	ENST00000325602.5	-	2	667	c.648T>G	c.(646-648)atT>atG	p.I216M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	216					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I195M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCCAGAAAATAAACTGGC	0.358																																						ENST00000325602.5																			1	Substitution - Missense(1)	p.I195M(1)	ovary(1)	biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(646-648)atT>atG		purinergic receptor P2Y, G-protein coupled, 13							62.0	67.0	65.0					3																	151046196		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151046196A>C	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.648T>G	3.37:g.151046196A>C	ENSP00000320376:p.Ile216Met					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.I216M	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	667	-			216					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.648T>G	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141912	0.57044	.	.	ENSG00000181631	ENST00000325602	T	0.72835	-0.69	5.64	-0.413	0.12363	GPCR, rhodopsin-like superfamily (1);	0.168065	0.52532	D	0.000079	T	0.74703	0.3751	L	0.58969	1.84	0.37738	D	0.925501	D	0.61080	0.989	D	0.71414	0.973	T	0.72184	-0.4367	10	0.45353	T	0.12	-17.9008	6.2401	0.20785	0.3171:0.0:0.5344:0.1485	.	216	Q9BPV8	P2Y13_HUMAN	M	216	ENSP00000320376:I216M	ENSP00000320376:I216M	I	-	3	3	P2RY13	152528886	0.074000	0.21230	0.968000	0.41197	0.958000	0.62258	-0.034000	0.12225	0.112000	0.17975	0.456000	0.33151	ATT		0.358	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		55	243	0	0	0	1	0	55	243				
N4BP2	55728	broad.mit.edu	37	4	40122738	40122738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122738C>T	ENST00000261435.6	+	9	3423	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1003					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAGCAAATGCCTAAGAGAGA	0.408																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3007-3009)Cct>Tct		NEDD4 binding protein 2							64.0	63.0	63.0					4																	40122738		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122738C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3007C>T	4.37:g.40122738C>T	ENSP00000261435:p.Pro1003Ser						p.P1003S	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	3423	+			1003					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3007C>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.015|0.015	-1.566015|-1.566015	0.00903|0.00903	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.19105	.|2.17	6.02|6.02	-3.81|-3.81	0.04294|0.04294	.|.	.|1.432000	.|0.03800	.|N	.|0.264223	T|T	0.11153|0.11153	0.0272|0.0272	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.11235	.|0.004;0.003	.|B;B	.|0.12156	.|0.007;0.003	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.18276	.|T	.|0.48	0.3197|0.3197	1.666|1.666	0.02802|0.02802	0.2159:0.2675:0.099:0.4175|0.2159:0.2675:0.099:0.4175	.|.	.|1003;1003	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	V|S	649|1003;923	.|ENSP00000261435:P1003S	.|ENSP00000261435:P1003S	A|P	+|+	2|1	0|0	N4BP2|N4BP2	39799133|39799133	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.930000|-0.930000	0.03972|0.03972	-1.381000|-1.381000	0.02112|0.02112	-0.140000|-0.140000	0.14226|0.14226	GCC|CCT		0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		29	310	0	0	0	1	0	29	310				
LAMB4	22798	broad.mit.edu	37	7	107706353	107706353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107706353C>T	ENST00000388781.3	-	21	2773	c.2690G>A	c.(2689-2691)gGt>gAt	p.G897D	LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D|LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	897	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCATAGTAACCATCAATACA	0.418																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2689-2691)gGt>gAt		laminin, beta 4							122.0	120.0	121.0					7																	107706353		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107706353C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2690G>A	7.37:g.107706353C>T	ENSP00000373433:p.Gly897Asp					LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D|LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D	p.G897D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			21	2773	-			897			Laminin EGF-like 8.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2690G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237985	0.79800	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.68624	-0.34;-0.34;-0.34	4.69	4.69	0.59074	EGF-like, laminin (4);	0.000000	0.52532	D	0.000073	D	0.84179	0.5415	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86918	0.2065	10	0.72032	D	0.01	.	11.6563	0.51320	0.0:0.9185:0.0:0.0815	.	897	A4D0S4	LAMB4_HUMAN	D	897	ENSP00000205386:G897D;ENSP00000373433:G897D;ENSP00000373432:G897D	ENSP00000205386:G897D	G	-	2	0	LAMB4	107493589	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.535000	0.67173	2.606000	0.88127	0.563000	0.77884	GGT		0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		71	296	0	0	0	1	0	71	296				
HS3ST1	9957	broad.mit.edu	37	4	11400937	11400937	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11400937G>A	ENST00000002596.5	-	2	1867	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	231					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGAACCTCTCGACCTTTTGGA	0.567																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(691-693)gtC>gtT		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							38.0	39.0	39.0					4																	11400937		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11400937G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.693C>T	4.37:g.11400937G>A							p.V231V	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1867	-			231					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.693C>T	CCDS3408.1																																																																																				0.567	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		31	184	0	0	0	1	0	31	184				
GFRA3	2676	broad.mit.edu	37	5	137588741	137588741	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137588741T>G	ENST00000274721.3	-	8	1365	c.1119A>C	c.(1117-1119)gaA>gaC	p.E373D	GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	373					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCAGGGTTTTCATTCTGTG	0.537																																						ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(1117-1119)gaA>gaC		GDNF family receptor alpha 3							59.0	69.0	66.0					5																	137588741		2203	4300	6503	SO:0001583	missense	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137588741T>G	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.1119A>C	5.37:g.137588741T>G	ENSP00000274721:p.Glu373Asp					GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	p.E373D	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		8	1365	-			373					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	c.1119A>C	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	T	7.554	0.663249	0.14710	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.44083	1.52;0.93	5.34	1.24	0.21308	.	1.200820	0.05729	N	0.599266	T	0.26991	0.0661	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.20638	-1.0269	10	0.16420	T	0.52	0.7164	10.7655	0.46291	0.0:0.0:0.5013:0.4987	.	342;373	O60609-2;O60609	.;GFRA3_HUMAN	D	373;342	ENSP00000274721:E373D;ENSP00000367613:E342D	ENSP00000274721:E373D	E	-	3	2	GFRA3	137616640	0.012000	0.17670	0.002000	0.10522	0.140000	0.21249	-0.101000	0.10973	0.428000	0.26173	0.528000	0.53228	GAA		0.537	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		30	103	0	0	0	1	0	30	103				
KIF4B	285643	broad.mit.edu	37	5	154395412	154395412	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395412A>G	ENST00000435029.4	+	1	2153	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	665	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGACAATGGAAGCAGAAAAA	0.398																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1993-1995)Aag>Gag		kinesin family member 4B							144.0	146.0	145.0					5																	154395412		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395412A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1993A>G	5.37:g.154395412A>G	ENSP00000387875:p.Lys665Glu						p.K665E	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2153	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	665			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.1993A>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	16.29	3.082917	0.55861	.	.	ENSG00000226650	ENST00000435029	T	0.10860	2.83	2.54	2.54	0.30619	.	.	.	.	.	T	0.24812	0.0602	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09574	-1.0668	9	0.16420	T	0.52	.	8.5427	0.33402	1.0:0.0:0.0:0.0	.	665	Q2VIQ3	KIF4B_HUMAN	E	665	ENSP00000387875:K665E	ENSP00000387875:K665E	K	+	1	0	KIF4B	154375605	1.000000	0.71417	0.979000	0.43373	0.824000	0.46624	5.781000	0.68964	0.939000	0.37446	0.460000	0.39030	AAG		0.398	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			112	523	0	0	0	1	0	112	523				
RAD23B	5887	broad.mit.edu	37	9	110084292	110084292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110084292C>T	ENST00000358015.3	+	7	1061	c.710C>T	c.(709-711)gCt>gTt	p.A237V	RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	237					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTCAGGCTGTGGTTGAC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(709-711)gCt>gTt	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							41.0	42.0	42.0					9																	110084292		2203	4300	6503	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110084292C>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.710C>T	9.37:g.110084292C>T	ENSP00000350708:p.Ala237Val					RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	p.A237V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			7	1061	+			237					B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.710C>T	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671429	0.29693	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.19669	2.14;2.13	5.28	5.28	0.74379	.	0.149642	0.64402	D	0.000013	T	0.14874	0.0359	N	0.24115	0.695	0.49130	D	0.999759	B;B;B	0.29571	0.247;0.249;0.093	B;B;B	0.30572	0.117;0.082;0.05	T	0.07539	-1.0767	10	0.10902	T	0.67	-6.0997	15.6292	0.76888	0.0:0.8624:0.1376:0.0	.	216;237;237	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	V	237;165	ENSP00000350708:A237V;ENSP00000405623:A165V	ENSP00000350708:A237V	A	+	2	0	RAD23B	109124113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.643000	0.54374	2.626000	0.88956	0.555000	0.69702	GCT		0.433	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		35	140	0	0	0	1	0	35	140				
NLRC5	84166	broad.mit.edu	37	16	57111861	57111861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57111861C>T	ENST00000262510.6	+	43	5235	c.5010C>T	c.(5008-5010)ggC>ggT	p.G1670G	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Silent_p.G1641G|NLRC5_ENST00000308149.7_Silent_p.G1641G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1670					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGGCTTGGCTGCAATGCCC	0.672																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5008-5010)ggC>ggT		NLR family, CARD domain containing 5							46.0	43.0	44.0					16																	57111861		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57111861C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5010C>T	16.37:g.57111861C>T						NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.G1641G|NLRC5_ENST00000539144.1_Silent_p.G1641G	p.G1670G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			43	5235	+		all_neural(199;0.225)	1670					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.5010C>T	CCDS10773.1																																																																																				0.672	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		8	243	0	0	0	1	0	8	243				
AP2A2	161	broad.mit.edu	37	11	1006544	1006544	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1006544T>G	ENST00000448903.2	+	17	2364	c.2223T>G	c.(2221-2223)ttT>ttG	p.F741L	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	741					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTTTATCTTTTATGGTAATA	0.423																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(2221-2223)ttT>ttG		adaptor-related protein complex 2, alpha 2 subunit							216.0	212.0	213.0					11																	1006544		1875	4099	5974	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:1006544T>G	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2223T>G	11.37:g.1006544T>G	ENSP00000413234:p.Phe741Leu					AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR	p.F741L	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	17	2364	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	741					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.2223T>G	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867997	0.72065	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.46063	0.88;0.88	4.35	-0.505	0.11993	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.88241	2.94	0.58432	D	0.999999	D;D	0.63880	0.992;0.993	D;D	0.74348	0.971;0.983	T	0.62886	-0.6759	10	0.46703	T	0.11	-9.1951	9.2983	0.37829	0.0:0.5228:0.0:0.4772	.	742;741	O94973-2;O94973	.;AP2A2_HUMAN	L	741;742;478;481	ENSP00000413234:F741L;ENSP00000327694:F742L	ENSP00000327694:F742L	F	+	3	2	AP2A2	996544	0.961000	0.32948	0.999000	0.59377	0.984000	0.73092	0.084000	0.14891	-0.004000	0.14419	0.523000	0.50628	TTT		0.423	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		78	333	0	0	0	1	0	78	333				
OGT	8473	broad.mit.edu	37	X	70777093	70777093	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70777093A>G	ENST00000373719.3	+	11	1586	c.1369A>G	c.(1369-1371)Aaa>Gaa	p.K457E	OGT_ENST00000373701.3_Missense_Mutation_p.K447E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	457					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CACGGCTCTGAAACTTAAGCC	0.378																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1369-1371)Aaa>Gaa		O-linked N-acetylglucosamine (GlcNAc) transferase							57.0	52.0	54.0					X																	70777093		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70777093A>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1369A>G	X.37:g.70777093A>G	ENSP00000362824:p.Lys457Glu					OGT_ENST00000373701.3_Missense_Mutation_p.K447E	p.K457E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			11	1586	+	Renal(35;0.156)		457					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1369A>G	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.879038	0.72294	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.15952	2.38;2.38	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.04655	-0.195	0.80722	D	1	D;P;D	0.58620	0.983;0.615;0.966	D;B;P	0.64877	0.93;0.391;0.832	T	0.36744	-0.9735	10	0.16896	T	0.51	-38.1856	15.0385	0.71767	1.0:0.0:0.0:0.0	.	331;447;457	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	E	457;447	ENSP00000362824:K457E;ENSP00000362805:K447E	ENSP00000362805:K447E	K	+	1	0	OGT	70693818	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.266000	0.95659	1.934000	0.56057	0.481000	0.45027	AAA		0.378	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		11	63	0	0	0	1	0	11	63				
H6PD	9563	broad.mit.edu	37	1	9305205	9305205	+	Missense_Mutation	SNP	A	A	G	rs201786227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9305205A>G	ENST00000377403.2	+	2	514	c.212A>G	c.(211-213)aAg>aGg	p.K71R	H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	71	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		ACAGCCCCCAAGCAGGGTCAA	0.572																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(211-213)aAg>aGg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						63.0	60.0	61.0					1																	9305205		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9305205A>G	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.212A>G	1.37:g.9305205A>G	ENSP00000366620:p.Lys71Arg					H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	p.K71R	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	2	514	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	71			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.212A>G	CCDS101.1	.	.	.	.	.	.	.	.	.	.	a	14.41	2.528407	0.44969	.	.	ENSG00000049239	ENST00000377403	T	0.63255	-0.03	5.31	-0.342	0.12635	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.671439	0.15732	N	0.247370	T	0.45776	0.1359	L	0.38175	1.15	0.09310	N	0.999991	B	0.10296	0.003	B	0.09377	0.004	T	0.33394	-0.9870	10	0.51188	T	0.08	-5.7056	6.1322	0.20211	0.6308:0.1522:0.217:0.0	.	71	O95479	G6PE_HUMAN	R	71	ENSP00000366620:K71R	ENSP00000366620:K71R	K	+	2	0	H6PD	9227792	0.869000	0.29996	0.770000	0.31555	0.936000	0.57629	1.800000	0.38833	-0.129000	0.11620	-0.332000	0.08345	AAG		0.572	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		44	169	0	0	0	1	0	44	169				
ARHGAP1	392	broad.mit.edu	37	11	46717607	46717607	+	Silent	SNP	G	G	A	rs538910010		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46717607G>A	ENST00000311956.4	-	2	148	c.51C>T	c.(49-51)agC>agT	p.S17S		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	17					positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCAGAGCCTCGCTGGTGTCAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20801	0.0		0.001	False		,,,				2504	0.0					ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(49-51)agC>agT		Rho GTPase activating protein 1							70.0	54.0	59.0					11																	46717607		2201	4299	6500	SO:0001819	synonymous_variant	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46717607G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.51C>T	11.37:g.46717607G>A							p.S17S	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	2	148	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	17					D3DQQ6	Silent	SNP	ENST00000311956.4	37	c.51C>T	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176617	0.21704	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.2	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7415	0.40420	0.3428:0.0:0.6572:0.0	.	.	.	.	X	15	.	.	R	-	1	2	ARHGAP1	46674183	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.364000	0.34171	0.614000	0.30107	-0.234000	0.12200	CGA		0.567	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		19	89	0	0	0	1	0	19	89				
ZGRF1	55345	broad.mit.edu	37	4	113539394	113539394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113539394T>C	ENST00000505019.1	-	6	1929	c.1804A>G	c.(1804-1806)Aca>Gca	p.T602A	C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A|C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		602						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACAGGAAATGTCACTGTAGGT	0.353																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1804-1806)Aca>Gca		chromosome 4 open reading frame 21							108.0	108.0	108.0					4																	113539394		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113539394T>C																												ENST00000505019.1:c.1804A>G	4.37:g.113539394T>C	ENSP00000424737:p.Thr602Ala					C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A|C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A	p.T602A	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1929	-		Ovarian(17;0.156)	602					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1804A>G		.	.	.	.	.	.	.	.	.	.	T	11.77	1.736409	0.30774	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81996	-1.56;1.94;1.55	4.65	-2.87	0.05700	.	1.612590	0.03166	N	0.170010	T	0.67021	0.2849	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.58918	-0.7551	10	0.02654	T	1	1.7342	6.8986	0.24271	0.0:0.163:0.5016:0.3353	.	602;602	Q86YA3;G5EA02	CD021_HUMAN;.	A	602;602;571	ENSP00000424737:T602A;ENSP00000309095:T602A;ENSP00000390505:T571A	ENSP00000309095:T602A	T	-	1	0	C4orf21	113758843	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	-0.726000	0.04936	-0.560000	0.06102	0.455000	0.32223	ACA		0.353	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			92	414	0	0	0	1	0	92	414				
GFPT1	2673	broad.mit.edu	37	2	69553337	69553337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69553337G>T	ENST00000357308.4	-	20	2262	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	GFPT1_ENST00000361060.5_Missense_Mutation_p.S677Y	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	695					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TACAGTCACAGATTTGGCAAG	0.333																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(2083-2085)tCt>tAt		glutamine--fructose-6-phosphate transaminase 1							89.0	89.0	89.0					2																	69553337		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69553337G>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.2084C>A	2.37:g.69553337G>T	ENSP00000349860:p.Ser695Tyr					GFPT1_ENST00000361060.4_Missense_Mutation_p.S677Y	p.S695Y	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			20	2262	-			695					Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.2084C>A	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743510	0.89663	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.74315	-0.83;-0.83	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.92867	0.7731	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95518	0.8592	10	0.87932	D	0	-17.7389	18.5783	0.91163	0.0:0.0:1.0:0.0	.	677	Q06210-2	.	Y	695;677	ENSP00000349860:S695Y;ENSP00000354347:S677Y	ENSP00000349860:S695Y	S	-	2	0	GFPT1	69406841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.596000	0.98267	2.854000	0.98071	0.655000	0.94253	TCT		0.333	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				31	101	1	0	3.33393e-15	1	3.63836e-15	31	101				
IGF1R	3480	broad.mit.edu	37	15	99456414	99456414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99456414C>T	ENST00000268035.6	+	8	2342	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	IGF1R_ENST00000558762.1_Silent_p.Y577Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	577	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGACTCAGTACGCCGTTTACG	0.572																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1729-1731)taC>taT		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						140.0	98.0	112.0					15																	99456414		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99456414C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1731C>T	15.37:g.99456414C>T						IGF1R_ENST00000558762.1_Silent_p.Y577Y	p.Y577Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		8	2342	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		577			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.1731C>T	CCDS10378.1																																																																																				0.572	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		54	305	0	0	0	1	0	54	305				
KMT2C	58508	broad.mit.edu	37	7	151859602	151859602	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151859602C>T	ENST00000262189.6	-	43	11278	c.11060G>A	c.(11059-11061)aGt>aAt	p.S3687N	KMT2C_ENST00000355193.2_Missense_Mutation_p.S3687N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3687					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGAAATCACTATTGGGCAG	0.468																																						ENST00000355193.2																			0											c.(11059-11061)aGt>aAt		lysine (K)-specific methyltransferase 2C							212.0	213.0	212.0					7																	151859602		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151859602C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11060G>A	7.37:g.151859602C>T	ENSP00000262189:p.Ser3687Asn					KMT2C_ENST00000262189.6_Missense_Mutation_p.S3687N	p.S3687N							43	11278	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.11060G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370395	0.24771	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.89343	-1.79;-1.83;-2.5	5.51	0.49	0.16861	.	0.658638	0.13152	U	0.409831	D	0.83381	0.5242	L	0.47716	1.5	0.09310	N	1	B;B;B	0.28128	0.201;0.006;0.001	B;B;B	0.27608	0.081;0.003;0.002	T	0.69866	-0.5029	10	0.40728	T	0.16	.	9.4648	0.38806	0.0:0.4076:0.4637:0.1287	.	3687;2748;3687	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	N	3687;3687;273	ENSP00000262189:S3687N;ENSP00000347325:S3687N;ENSP00000410411:S273N	ENSP00000262189:S3687N	S	-	2	0	MLL3	151490535	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.472000	0.22116	-0.195000	0.10382	0.650000	0.86243	AGT		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			203	1050	0	0	0	1	0	203	1050				
RAD23A	5886	broad.mit.edu	37	19	13059574	13059574	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13059574G>A	ENST00000586534.1	+	5	608	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T|RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	183	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTCGTGGCCGCCCTGAGAGC	0.632								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(547-549)Gcc>Acc	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							92.0	96.0	95.0					19																	13059574		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059574G>A		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.547G>A	19.37:g.13059574G>A	ENSP00000467024:p.Ala183Thr					RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T	p.A183T			P54725	RD23A_HUMAN			5	608	+			183			UBA 1.		K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.547G>A	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032357	0.93575	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.64618	-0.11;-0.11	4.61	4.61	0.57282	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	D	0.91040	0.4870	10	0.72032	D	0.01	-43.2666	16.2132	0.82185	0.0:0.0:1.0:0.0	.	183;200;183	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	T	183;18	ENSP00000321365:A183T;ENSP00000438741:A18T	ENSP00000321365:A183T	A	+	1	0	RAD23A	12920574	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.974000	0.93433	2.110000	0.64415	0.561000	0.74099	GCC		0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		189	827	0	0	0	1	0	189	827				
TRPM6	140803	broad.mit.edu	37	9	77427277	77427277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77427277C>A	ENST00000360774.1	-	12	1618	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	461					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTCCATATTCTATTAAGAGC	0.413																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1381-1383)Gaa>Taa		transient receptor potential cation channel, subfamily M, member 6							114.0	104.0	107.0					9																	77427277		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77427277C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1381G>T	9.37:g.77427277C>A	ENSP00000354006:p.Glu461*					TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.E461*	p.E461*			Q9BX84	TRPM6_HUMAN			12	1618	-			461					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.1381G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	40	8.385365	0.98789	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.7	5.7	0.88788	.	0.044112	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8436	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	X	461;461;461;461;456;456;461;124;124	.	ENSP00000309693:E124X	E	-	1	0	TRPM6	76617097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GAA		0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		80	337	1	0	3.56499e-28	1	4.14352e-28	80	337				
TBX18	9096	broad.mit.edu	37	6	85473690	85473690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:85473690G>A	ENST00000369663.5	-	1	547	c.210C>T	c.(208-210)gaC>gaT	p.D70D	TBX18_ENST00000606521.1_5'Flank|TBX18_ENST00000606784.1_5'Flank	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	70					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGCGCCTTCGTCTCCCTCAG	0.756																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(208-210)gaC>gaT		T-box 18							4.0	5.0	5.0					6																	85473690		1979	3992	5971	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85473690G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.210C>T	6.37:g.85473690G>A							p.D70D	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	1	547	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	70					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.210C>T	CCDS34495.1																																																																																				0.756	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		18	45	0	0	0	1	0	18	45				
SH3D19	152503	broad.mit.edu	37	4	152096417	152096417	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152096417C>A	ENST00000409252.2	-	6	806	c.99G>T	c.(97-99)aaG>aaT	p.K33N	SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N|SH3D19_ENST00000409598.4_Missense_Mutation_p.K33N|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N|SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	33					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTCTGGTTTCTTGGGCAGTC	0.428																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(97-99)aaG>aaT		SH3 domain containing 19							123.0	130.0	128.0					4																	152096417		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152096417C>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.99G>T	4.37:g.152096417C>A	ENSP00000386848:p.Lys33Asn					SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000409252.2_Missense_Mutation_p.K33N|SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N|SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N	p.K33N			Q5HYK7	SH319_HUMAN			7	1266	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	33					B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.99G>T	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349846	0.61183	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26	6.07	4.36	0.52297	.	1.529900	0.03461	N	0.212118	T	0.18045	0.0433	L	0.54323	1.7	0.31061	N	0.714097	B;P;P	0.41232	0.434;0.57;0.743	B;B;P	0.45232	0.218;0.389;0.474	T	0.17289	-1.0374	10	0.72032	D	0.01	-3.7997	12.0101	0.53282	0.0:0.8089:0.0:0.1911	.	33;33;33	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	N	33	ENSP00000387030:K33N;ENSP00000302913:K33N;ENSP00000416708:K33N;ENSP00000404542:K33N;ENSP00000415694:K33N;ENSP00000386848:K33N;ENSP00000423449:K33N	ENSP00000302913:K33N	K	-	3	2	SH3D19	152315867	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.764000	0.26532	0.900000	0.36469	0.655000	0.94253	AAG		0.428	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		142	643	1	0	3.17917e-66	1	4.02221e-66	142	643				
MT1M	4499	broad.mit.edu	37	16	56667670	56667670	+	Nonsense_Mutation	SNP	C	C	A	rs368113609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56667670C>A	ENST00000379818.3	+	3	601	c.102C>A	c.(100-102)tgC>tgA	p.C34*	AC026461.1_ENST00000600389.1_5'Flank|MT1JP_ENST00000564564.1_RNA	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	34	Alpha.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.C34C(2)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGGCTGCTGCTCCTGCTGCC	0.622																																						ENST00000379818.3																			2	Substitution - coding silent(2)	p.C34C(2)	lung(1)|endometrium(1)	endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(100-102)tgC>tgA		metallothionein 1M							134.0	137.0	136.0					16																	56667670		2198	4300	6498	SO:0001587	stop_gained	4499						metal ion binding	g.chr16:56667670C>A	AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"""Metallothioneins"""	14296	protein-coding gene	gene with protein product		156357	"""metallothionein 1K"""	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.102C>A	16.37:g.56667670C>A	ENSP00000369146:p.Cys34*						p.C34*	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN			3	601	+			34			Alpha.		Q8TDN3	Nonsense_Mutation	SNP	ENST00000379818.3	37	c.102C>A	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	C	37	6.037933	0.97226	.	.	ENSG00000205364	ENST00000379818	.	.	.	2.41	2.41	0.29592	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0436	0.42173	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000369146:C34X	C	+	3	2	MT1M	55225171	0.698000	0.27777	0.998000	0.56505	0.557000	0.35523	-0.062000	0.11674	1.338000	0.45544	0.461000	0.40582	TGC		0.622	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	NM_176870		153	849	1	0	3.41882e-60	1	4.29776e-60	153	849				
SCUBE1	80274	broad.mit.edu	37	22	43623456	43623456	+	Silent	SNP	G	G	A	rs142424380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43623456G>A	ENST00000360835.4	-	10	1257	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	377	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGTGTTGACGCAGCCCTGGT	0.677																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1129-1131)tgC>tgT		signal peptide, CUB domain, EGF-like 1		G		2,4404	4.2+/-10.8	0,2,2201	79.0	63.0	68.0		1131	-1.0	1.0	22	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	SCUBE1	NM_173050.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		377/989	43623456	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43623456G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1131C>T	22.37:g.43623456G>A							p.C377C	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			10	1257	-		all_neural(38;0.0414)|Ovarian(80;0.07)	377			EGF-like 9; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.1131C>T	CCDS14048.1																																																																																				0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		39	151	0	0	0	1	0	39	151				
ALPK1	80216	broad.mit.edu	37	4	113360948	113360948	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113360948A>G	ENST00000458497.1	+	14	3737	c.3458A>G	c.(3457-3459)aAa>aGa	p.K1153R	ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R|ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1153	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACAGAATACAAAGCCACAGAA	0.373																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3457-3459)aAa>aGa		alpha-kinase 1							70.0	70.0	70.0					4																	113360948		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113360948A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3458A>G	4.37:g.113360948A>G	ENSP00000398048:p.Lys1153Arg					ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R|ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R	p.K1153R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	14	3737	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1153			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3458A>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457223	0.63401	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.14144	2.53;2.53;2.53	5.05	3.86	0.44501	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.376195	0.29707	N	0.011410	T	0.20373	0.0490	N	0.17674	0.51	0.25132	N	0.990568	D;D;D	0.89917	0.996;1.0;0.971	D;D;P	0.77004	0.922;0.989;0.855	T	0.04796	-1.0926	10	0.45353	T	0.12	-14.5214	10.6883	0.45856	0.924:0.0:0.076:0.0	.	1075;1075;1153	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	1153;1153;1075	ENSP00000398048:K1153R;ENSP00000177648:K1153R;ENSP00000426044:K1075R	ENSP00000177648:K1153R	K	+	2	0	ALPK1	113580397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.589000	0.46145	0.764000	0.33197	0.445000	0.29226	AAA		0.373	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		8	186	0	0	0	1	0	8	186				
HEPH	9843	broad.mit.edu	37	X	65420511	65420511	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420511T>C	ENST00000343002.2	+	11	2658	c.1994T>C	c.(1993-1995)gTg>gCg	p.V665A	HEPH_ENST00000519389.1_Missense_Mutation_p.V719A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000336279.5_Missense_Mutation_p.V398A			Q9BQS7	HEPH_HUMAN	hephaestin	665	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCAACACTGTGCAGCTTCAG	0.567																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2155-2157)gTg>gCg		hephaestin							169.0	103.0	126.0					X																	65420511		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65420511T>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1994T>C	X.37:g.65420511T>C	ENSP00000343939:p.Val665Ala					HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000343002.2_Missense_Mutation_p.V665A|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Missense_Mutation_p.V398A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A	p.V719A			Q9BQS7	HEPH_HUMAN			12	2335	+			665					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2156T>C		.	.	.	.	.	.	.	.	.	.	T	13.38	2.221411	0.39300	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	4.73	4.73	0.59995	Cupredoxin (2);	0.309310	0.31601	N	0.007363	D	0.98902	0.9628	L	0.52573	1.65	0.09310	N	0.999994	B;B	0.30179	0.14;0.271	B;B	0.26614	0.071;0.066	D	0.98994	1.0809	10	0.62326	D	0.03	.	12.2515	0.54601	0.0:0.0:0.0:1.0	.	719;665	E9PHN8;Q9BQS7	.;HEPH_HUMAN	A	719;668;398;668;665;622	ENSP00000430620:V719A;ENSP00000363859:V668A;ENSP00000337418:V398A;ENSP00000411687:V668A;ENSP00000343939:V665A;ENSP00000398078:V622A	ENSP00000337418:V398A	V	+	2	0	HEPH	65337236	0.968000	0.33430	0.978000	0.43139	0.961000	0.63080	7.559000	0.82265	1.569000	0.49696	0.486000	0.48141	GTG		0.567	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		36	142	0	0	0	1	0	36	142				
COL11A1	1301	broad.mit.edu	37	1	103544316	103544316	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103544316A>C	ENST00000370096.3	-	3	698	c.386T>G	c.(385-387)gTt>gGt	p.V129G	COL11A1_ENST00000358392.2_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G|COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	129	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAACCTCAACACCAATTTG	0.393																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(385-387)gTt>gGt		collagen, type XI, alpha 1							75.0	79.0	78.0					1																	103544316		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544316A>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.386T>G	1.37:g.103544316A>C	ENSP00000359114:p.Val129Gly					COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G|COL11A1_ENST00000370096.3_Missense_Mutation_p.V129G	p.V129G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	703	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	129			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.386T>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684905	0.68157	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02	5.53	5.53	0.82687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.86573	2.825	0.80722	D	1	P;D;D;D	0.58970	0.815;0.98;0.98;0.984	P;P;P;P	0.54815	0.583;0.649;0.649;0.761	T	0.00942	-1.1506	10	0.87932	D	0	.	15.6579	0.77158	1.0:0.0:0.0:0.0	.	129;129;129;129	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	129;129;129;129;129;56	ENSP00000359114:V129G;ENSP00000351163:V129G;ENSP00000302551:V129G;ENSP00000426533:V129G;ENSP00000408640:V129G;ENSP00000410177:V56G	ENSP00000302551:V129G	V	-	2	0	COL11A1	103316904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.107000	0.64212	0.533000	0.62120	GTT		0.393	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		49	195	0	0	0	1	0	49	195				
CYP2D6	1565	broad.mit.edu	37	22	42525823	42525823	+	Missense_Mutation	SNP	G	G	A	rs267608309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42525823G>A	ENST00000360608.5	-	2	383	c.269C>T	c.(268-270)gCg>gTg	p.A90V	CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000608491.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	90					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GGTCACCAGCGCCTCGCGCAC	0.716																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(268-270)gCg>gTg		cytochrome P450, family 2, subfamily D, polypeptide 6							13.0	14.0	13.0					22																	42525823		2161	4193	6354	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42525823G>A	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.269C>T	22.37:g.42525823G>A	ENSP00000353820:p.Ala90Val					CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA	p.A90V	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			2	383	-			90					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.269C>T	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	g	15.35	2.808652	0.50421	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.61510	0.1;0.1;0.1	3.46	2.44	0.29823	.	0.000000	0.64402	D	0.000001	T	0.50411	0.1614	L	0.43554	1.36	0.58432	D	0.999999	P;P	0.49447	0.734;0.924	P;B	0.47626	0.552;0.313	T	0.40117	-0.9580	10	0.19147	T	0.46	.	10.2971	0.43631	0.1036:0.0:0.8964:0.0	.	90;90	Q6NXU8;Q6NWU0	.;.	V	90;90;39;90;90	ENSP00000353820:A90V;ENSP00000374620:A90V;ENSP00000351927:A90V	ENSP00000351927:A90V	A	-	2	0	CYP2D6	40855767	1.000000	0.71417	0.987000	0.45799	0.254000	0.26022	4.625000	0.61262	1.022000	0.39626	0.484000	0.47621	GCG		0.716	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			36	193	0	0	0	1	0	36	193				
NUDCD3	23386	broad.mit.edu	37	7	44425626	44425626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44425626C>T	ENST00000355451.7	-	6	1349	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	357										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CTGCACAGCCCCCGGGGAGAT	0.572																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(1069-1071)gGg>gAg		NudC domain containing 3							68.0	64.0	65.0					7																	44425626		2203	4300	6503	SO:0001583	missense	23386							g.chr7:44425626C>T	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.1070G>A	7.37:g.44425626C>T	ENSP00000347626:p.Gly357Glu					NUDCD3_ENST00000460110.1_5'UTR	p.G357E	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			6	1349	-			357					Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.1070G>A	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917406	0.92249	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.58358	0.34	5.88	5.88	0.94601	.	0.103771	0.64402	D	0.000004	T	0.68632	0.3022	L	0.59436	1.845	0.58432	D	0.999994	D	0.69078	0.997	P	0.60789	0.879	T	0.69176	-0.5214	10	0.72032	D	0.01	-20.757	19.8237	0.96607	0.0:1.0:0.0:0.0	.	357	Q8IVD9	NUDC3_HUMAN	E	357;113	ENSP00000347626:G357E	ENSP00000345922:G113E	G	-	2	0	NUDCD3	44392151	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.769000	0.68865	2.786000	0.95864	0.655000	0.94253	GGG		0.572	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		25	291	0	0	0	1	0	25	291				
UNC50	25972	broad.mit.edu	37	2	99226447	99226447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226447C>T	ENST00000357765.2	+	2	377	c.225C>T	c.(223-225)gaC>gaT	p.D75D	COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Silent_p.D92D|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409975.1_Silent_p.D92D|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	75					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGACGAAGGACCAGTGGGCCA	0.448																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(274-276)gaC>gaT		unc-50 homolog (C. elegans)							54.0	58.0	57.0					2																	99226447		2203	4300	6503	SO:0001819	synonymous_variant	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226447C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.225C>T	2.37:g.99226447C>T						UNC50_ENST00000357765.2_Silent_p.D75D|UNC50_ENST00000409347.1_Silent_p.D92D	p.D92D			Q53HI1	UNC50_HUMAN			1	1406	+			75					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Silent	SNP	ENST00000357765.2	37	c.276C>T	CCDS2035.1																																																																																				0.448	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		95	240	0	0	0	1	0	95	240				
PKHD1	5314	broad.mit.edu	37	6	51771115	51771115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51771115C>T	ENST00000371117.3	-	41	6981	c.6706G>A	c.(6706-6708)Gtg>Atg	p.V2236M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTTCCTCACTGTGCAGCCC	0.438																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6706-6708)Gtg>Atg		polycystic kidney and hepatic disease 1 (autosomal recessive)							69.0	69.0	69.0					6																	51771115		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51771115C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6706G>A	6.37:g.51771115C>T	ENSP00000360158:p.Val2236Met					PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	p.V2236M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			41	6981	-	Lung NSC(77;0.0605)		2236					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6706G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675254	0.47781	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92647	-3.08;-3.08	5.25	1.4	0.22301	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.197660	0.35207	N	0.003363	D	0.89715	0.6795	M	0.77103	2.36	0.09310	N	1	D;P	0.56968	0.978;0.894	P;B	0.53593	0.73;0.437	D	0.83848	0.0261	10	0.51188	T	0.08	.	8.7278	0.34480	0.0:0.6892:0.0:0.3108	.	2236;2236	P08F94-2;P08F94	.;PKHD1_HUMAN	M	2236	ENSP00000360158:V2236M;ENSP00000341097:V2236M	ENSP00000341097:V2236M	V	-	1	0	PKHD1	51879074	0.008000	0.16893	0.004000	0.12327	0.118000	0.20060	0.111000	0.15458	0.215000	0.20761	-0.136000	0.14681	GTG		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		68	305	0	0	0	1	0	68	305				
EEPD1	80820	broad.mit.edu	37	7	36336643	36336643	+	Missense_Mutation	SNP	C	C	T	rs201649550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36336643C>T	ENST00000242108.4	+	7	2075	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	453					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGGCCAAGGGCCAGACAGCAA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		21166	0.001		0.0	False		,,,				2504	0.0					ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(1357-1359)Cca>Tca		endonuclease/exonuclease/phosphatase family domain containing 1							106.0	102.0	103.0					7																	36336643		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36336643C>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1357C>T	7.37:g.36336643C>T	ENSP00000242108:p.Pro453Ser					EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	p.P453S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			7	2075	+			453					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.1357C>T	CCDS34619.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.54	3.646501	0.67358	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95788	-3.81;-3.81	5.09	5.09	0.68999	Endonuclease/exonuclease/phosphatase (2);	0.107611	0.64402	D	0.000004	D	0.95934	0.8676	L	0.59436	1.845	0.58432	D	0.999998	P	0.52692	0.955	P	0.54889	0.763	D	0.95557	0.8626	10	0.54805	T	0.06	-11.2339	14.9567	0.71120	0.0:0.8572:0.1428:0.0	.	453	Q7L9B9	EEPD1_HUMAN	S	453	ENSP00000242108:P453S;ENSP00000442692:P453S	ENSP00000242108:P453S	P	+	1	0	EEPD1	36303168	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	4.650000	0.61440	2.759000	0.94783	0.555000	0.69702	CCA		0.468	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		51	200	0	0	0	1	0	51	200				
SHISA3	152573	broad.mit.edu	37	4	42403028	42403028	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403028G>T	ENST00000319234.4	+	2	495		c.e2-1			NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3						multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTGCCTTTTAGAGCCTGTCTA	0.488																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.e2-1		shisa family member 3							179.0	179.0	179.0					4																	42403028		2203	4300	6503	SO:0001630	splice_region_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403028G>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.278-1G>T	4.37:g.42403028G>T								NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	495	+								A0PJX3|Q96EQ5	Splice_Site	SNP	ENST00000319234.4	37		CCDS33979.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980950	0.74474	.	.	ENSG00000178343	ENST00000319234	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9622	0.89089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHISA3	42097785	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.657000	0.98554	2.582000	0.87167	0.655000	0.94253	.		0.488	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505	Intron	143	639	1	0	3.68518e-59	1	4.62544e-59	143	639				
ERCC1	2067	broad.mit.edu	37	19	45918173	45918173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45918173C>T	ENST00000300853.3	-	7	1239	c.648G>A	c.(646-648)gaG>gaA	p.E216E	ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000589165.1_Silent_p.E216E|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000340192.7_Silent_p.E216E	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	216					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CTGGTTTCTGCTCATAGGCCT	0.602								Nucleotide excision repair (NER)																														ENST00000300853.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(646-648)gaG>gaA	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)							109.0	93.0	99.0					19																	45918173		2203	4300	6503	SO:0001819	synonymous_variant	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45918173C>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.648G>A	19.37:g.45918173C>T						ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000589165.1_Silent_p.E216E|ERCC1_ENST00000340192.7_Silent_p.E216E	p.E216E	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	7	1239	-		Ovarian(192;0.051)|all_neural(266;0.112)	216					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	c.648G>A	CCDS12662.1																																																																																				0.602	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		45	276	0	0	0	1	0	45	276				
WFS1	7466	broad.mit.edu	37	4	6303071	6303071	+	Missense_Mutation	SNP	C	C	T	rs371911218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303071C>T	ENST00000226760.1	+	8	1719	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	517					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCTCTTCTTCCGCATGGCACA	0.577																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21	GRCh37	CD993079	WFS1	D		c.(1549-1551)Cgc>Tgc		Wolfram syndrome 1 (wolframin)			CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	100.0	107.0		1549,1549	3.5	1.0	4		107	0,8600		0,0,4300	no	missense,missense	WFS1	NM_006005.3,NM_001145853.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	517/891,517/891	6303071	1,13005	2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303071C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1549C>T	4.37:g.6303071C>T	ENSP00000226760:p.Arg517Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1719	+			517					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1549C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	9.971	1.225411	0.22457	2.27E-4	0.0	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.81821	-1.54;-1.54	4.38	3.45	0.39498	.	0.127040	0.53938	D	0.000044	T	0.75496	0.3857	M	0.61703	1.905	0.53688	D	0.999979	B	0.22414	0.069	B	0.16722	0.016	T	0.76591	-0.2903	10	0.87932	D	0	-51.3577	9.4528	0.38736	0.3831:0.6168:0.0:0.0	.	517	O76024	WFS1_HUMAN	C	517	ENSP00000423337:R517C;ENSP00000226760:R517C	ENSP00000226760:R517C	R	+	1	0	WFS1	6353972	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.007000	0.40883	2.269000	0.75478	0.561000	0.74099	CGC		0.577	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			116	527	0	0	0	1	0	116	527				
OR2B2	81697	broad.mit.edu	37	6	27879845	27879845	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879845T>C	ENST00000303324.2	-	1	329	c.253A>G	c.(253-255)Ata>Gta	p.I85V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTGTTGCATATGTTTACCAGC	0.453																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(253-255)Ata>Gta		olfactory receptor, family 2, subfamily B, member 2							166.0	142.0	150.0					6																	27879845		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879845T>C	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.253A>G	6.37:g.27879845T>C	ENSP00000304419:p.Ile85Val						p.I85V	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	329	-			85					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.253A>G	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	T	3.218	-0.160103	0.06502	.	.	ENSG00000168131	ENST00000303324	T	0.00392	7.58	4.52	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.173808	0.26485	U	0.024112	T	0.00109	0.0003	L	0.49699	1.58	0.09310	N	1	B	0.28378	0.209	B	0.26770	0.073	T	0.40961	-0.9535	10	0.87932	D	0	.	5.3596	0.16081	0.1691:0.0:0.3501:0.4808	.	85	Q9GZK3	OR2B2_HUMAN	V	85	ENSP00000304419:I85V	ENSP00000304419:I85V	I	-	1	0	OR2B2	27987824	0.000000	0.05858	0.262000	0.24481	0.015000	0.08874	-2.156000	0.01283	0.821000	0.34540	-0.374000	0.07098	ATA		0.453	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			62	270	0	0	0	1	0	62	270				
ZER1	10444	broad.mit.edu	37	9	131495800	131495800	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131495800C>A	ENST00000291900.2	-	15	2554	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	RP11-545E17.3_ENST00000443631.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	716					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.K716K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAGGGCAGTACTTGTCCGCTG	0.567											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000291900.2																			1	Substitution - coding silent(1)	p.K716K(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(2146-2148)aaG>aaT		zyg-11 related, cell cycle regulator							58.0	48.0	52.0					9																	131495800		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131495800C>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.2148G>T	9.37:g.131495800C>A	ENSP00000291900:p.Lys716Asn		OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1588		p.K716N	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			15	2554	-			716					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.2148G>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954837	0.73902	.	.	ENSG00000160445	ENST00000291900	T	0.65549	-0.16	5.77	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.72609	-0.4241	10	0.54805	T	0.06	-44.6261	7.6963	0.28596	0.0:0.6569:0.0:0.3431	.	716	Q7Z7L7	ZER1_HUMAN	N	716	ENSP00000291900:K716N	ENSP00000291900:K716N	K	-	3	2	ZER1	130535621	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.446000	0.21694	0.395000	0.25257	0.655000	0.94253	AAG		0.567	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		22	82	1	0	1.2644e-06	1	1.30616e-06	22	82				
TANC1	85461	broad.mit.edu	37	2	160031536	160031536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160031536G>A	ENST00000263635.6	+	12	1813	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	526					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCACAGCATCGCAGCTTTGCT	0.582																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(1576-1578)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							212.0	212.0	212.0					2																	160031536		2113	4222	6335	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160031536G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1576G>A	2.37:g.160031536G>A	ENSP00000263635:p.Ala526Thr					TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	p.A526T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			12	1813	+			526					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.1576G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678943	0.88542	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.76968	-1.02;-1.06	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.80616	2.505	0.80722	D	1	P;P;D	0.89917	0.868;0.919;1.0	B;B;D	0.78314	0.132;0.369;0.991	D	0.89947	0.4077	10	0.87932	D	0	.	15.7049	0.77569	0.0:0.0:0.8621:0.1379	.	518;420;526	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	T	420;526	ENSP00000396339:A420T;ENSP00000263635:A526T	ENSP00000263635:A526T	A	+	1	0	TANC1	159739782	1.000000	0.71417	0.329000	0.25429	0.901000	0.52897	7.690000	0.84178	1.325000	0.45301	0.655000	0.94253	GCA		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			395	1141	0	0	0	1	0	395	1141				
NES	10763	broad.mit.edu	37	1	156639791	156639791	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639791G>A	ENST00000368223.3	-	4	4321	c.4189C>T	c.(4189-4191)Cta>Tta	p.L1397L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1397	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGATCCAGTAGCAGCTGGGGC	0.602																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(4189-4191)Cta>Tta		nestin							32.0	37.0	35.0					1																	156639791		2203	4299	6502	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639791G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4189C>T	1.37:g.156639791G>A							p.L1397L	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	4321	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1397			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.4189C>T	CCDS1151.1																																																																																				0.602	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		71	235	0	0	0	1	0	71	235				
MUC16	94025	broad.mit.edu	37	19	9090699	9090699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090699C>A	ENST00000397910.4	-	1	1319	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	372	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCCATGGTCTCAGCGAAGG	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1114-1116)gaG>gaT		mucin 16, cell surface associated							92.0	87.0	89.0					19																	9090699		2036	4189	6225	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090699C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1116G>T	19.37:g.9090699C>A	ENSP00000381008:p.Glu372Asp						p.E372D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1319	-			372			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1116G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.030	-0.199854	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.38	-1.31	0.09230	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.15719	0.014	B	0.10450	0.005	T	0.46816	-0.9164	8	0.87932	D	0	.	1.9136	0.03292	0.3171:0.4568:0.0:0.2261	.	372	B5ME49	.	D	372	ENSP00000381008:E372D	ENSP00000381008:E372D	E	-	3	2	MUC16	8951699	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-3.040000	0.00633	-0.277000	0.09193	0.313000	0.20887	GAG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	189	1	0	1.00953e-15	1	1.10482e-15	45	189				
MYL10	93408	broad.mit.edu	37	7	101256954	101256954	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101256954G>T	ENST00000223167.4	-	7	747	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCCTCACTGAAGCGGTCTG	0.547																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(568-570)ttC>ttA		myosin, light chain 10, regulatory							153.0	129.0	137.0					7																	101256954		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101256954G>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.570C>A	7.37:g.101256954G>T	ENSP00000223167:p.Phe190Leu						p.F190L	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			7	747	-			190			EF-hand 3.			Missense_Mutation	SNP	ENST00000223167.4	37	c.570C>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575912	0.86645	.	.	ENSG00000106436	ENST00000223167	T	0.74315	-0.83	4.61	3.71	0.42584	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.76026	0.3930	L	0.58583	1.82	0.52501	D	0.999956	D	0.55172	0.97	P	0.52758	0.708	T	0.75510	-0.3292	10	0.39692	T	0.17	.	10.8521	0.46775	0.0964:0.0:0.9036:0.0	.	190	Q9BUA6	MYL10_HUMAN	L	190	ENSP00000223167:F190L	ENSP00000223167:F190L	F	-	3	2	MYL10	101043674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.324000	0.52022	2.122000	0.65172	0.650000	0.86243	TTC		0.547	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		64	391	1	0	4.17052e-40	1	5.05327e-40	64	391				
OR10S1	219873	broad.mit.edu	37	11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	rs141270826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847863C>T	ENST00000531945.1	-	1	625	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552																																						ENST00000531945.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(535-537)cGc>cAc		olfactory receptor, family 10, subfamily S, member 1		C	HIS/ARG	0,4404		0,0,2202	102.0	88.0	92.0		536	-9.8	0.1	11	dbSNP_134	92	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR10S1	NM_001004474.1	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	179/332	123847863	1,13001	2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847863C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.536G>A	11.37:g.123847863C>T	ENSP00000431914:p.Arg179His						p.R179H	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	625	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	179					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.536G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101556	0.20632	0.0	1.16E-4	ENSG00000196248	ENST00000531945	T	0.00169	8.63	4.89	-9.78	0.00496	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00109	0.0003	N	0.13098	0.295	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.40627	-0.9553	10	0.30078	T	0.28	0.5192	13.0874	0.59149	0.0:0.3187:0.0747:0.6065	.	179	Q8NGN2	O10S1_HUMAN	H	179	ENSP00000431914:R179H	ENSP00000431914:R179H	R	-	2	0	OR10S1	123353073	0.000000	0.05858	0.114000	0.21550	0.846000	0.48090	-4.084000	0.00298	-2.039000	0.00917	-0.405000	0.06341	CGC		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		58	293	0	0	0	1	0	58	293				
DNAJB7	150353	broad.mit.edu	37	22	41257476	41257476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41257476C>T	ENST00000307221.4	-	1	654	c.523G>A	c.(523-525)Gct>Act	p.A175T	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	175							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTATCAAAAGCCAGGGAAGAG	0.338																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(523-525)Gct>Act		DnaJ (Hsp40) homolog, subfamily B, member 7							88.0	90.0	89.0					22																	41257476		2203	4300	6503	SO:0001583	missense	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257476C>T	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.523G>A	22.37:g.41257476C>T	ENSP00000307197:p.Ala175Thr					XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	p.A175T	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	654	-			175					Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	c.523G>A	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858335	0.17178	.	.	ENSG00000172404	ENST00000307221	T	0.45668	0.89	4.7	-4.54	0.03452	.	1.106060	0.07028	N	0.827902	T	0.27765	0.0683	L	0.50333	1.59	0.23776	N	0.996874	B	0.33777	0.425	B	0.30572	0.117	T	0.20907	-1.0261	10	0.21540	T	0.41	.	3.4648	0.07545	0.5679:0.1768:0.1058:0.1495	.	175	Q7Z6W7	DNJB7_HUMAN	T	175	ENSP00000307197:A175T	ENSP00000307197:A175T	A	-	1	0	DNAJB7	39587422	0.844000	0.29557	0.002000	0.10522	0.129000	0.20672	1.122000	0.31295	-0.659000	0.05359	-0.282000	0.10007	GCT		0.338	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		113	480	0	0	0	1	0	113	480				
ZNF277	11179	broad.mit.edu	37	7	111936363	111936363	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111936363A>G	ENST00000361822.3	+	4	591	c.462A>G	c.(460-462)agA>agG	p.R154R	ZNF277_ENST00000450657.1_Silent_p.R154R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	154					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGAAACAGAGACTGGTAAGAA	0.274																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(460-462)agA>agG		zinc finger protein 277							53.0	57.0	56.0					7																	111936363		2199	4283	6482	SO:0001819	synonymous_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111936363A>G	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.462A>G	7.37:g.111936363A>G						ZNF277_ENST00000450657.1_Silent_p.R154R	p.R154R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN			4	591	+			154					Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	37	c.462A>G	CCDS5755.2																																																																																				0.274	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		35	234	0	0	0	1	0	35	234				
NUDT8	254552	broad.mit.edu	37	11	67397232	67397232	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67397232G>T	ENST00000376693.2	-	1	160	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	RP11-655M14.13_ENST00000533311.1_lincRNA|NUDT8_ENST00000301490.4_Missense_Mutation_p.L51M	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	51	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CTGGACCGCAGCGTGTACAGC	0.761																																						ENST00000301490.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)	4						c.(151-153)Ctg>Atg		nudix (nucleoside diphosphate linked moiety X)-type motif 8							7.0	7.0	7.0					11																	67397232		1965	3874	5839	SO:0001583	missense	254552					mitochondrion	hydrolase activity|metal ion binding	g.chr11:67397232G>T	AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"""Nudix motif containing"""	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.151C>A	11.37:g.67397232G>T	ENSP00000365883:p.Leu51Met					NUDT8_ENST00000376693.2_Missense_Mutation_p.L51M	p.L51M	NM_181843.2	NP_862826.1	Q8WV74	NUDT8_HUMAN			1	169	-			51			Nudix hydrolase.		Q6ZW59	Missense_Mutation	SNP	ENST00000376693.2	37	c.151C>A	CCDS58151.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132531	0.56828	.	.	ENSG00000167799	ENST00000301490;ENST00000376693	T;T	0.07908	3.15;3.15	2.94	2.94	0.34122	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.108661	0.38837	U	0.001554	T	0.21761	0.0524	M	0.63208	1.945	0.39747	D	0.971835	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.01256	-1.1404	10	0.56958	D	0.05	-10.0279	9.5342	0.39213	0.0:0.0:1.0:0.0	.	51;51	Q8WV74;Q8WV74-2	NUDT8_HUMAN;.	M	51	ENSP00000301490:L51M;ENSP00000365883:L51M	ENSP00000301490:L51M	L	-	1	2	NUDT8	67153808	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.235000	0.51328	1.679000	0.50963	0.306000	0.20318	CTG		0.761	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394036.1	NM_181843		20	83	1	0	3.73148e-12	1	3.99992e-12	20	83				
SLC6A6	6533	broad.mit.edu	37	3	14489241	14489241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489241G>A	ENST00000454876.2	+	5	845	c.516G>A	c.(514-516)atG>atA	p.M172I	SLC6A6_ENST00000416216.2_Missense_Mutation_p.M172I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	172					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCACTGCATGGAGGACACCA	0.562																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(514-516)atG>atA		solute carrier family 6 (neurotransmitter transporter), member 6							239.0	183.0	202.0					3																	14489241		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489241G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.516G>A	3.37:g.14489241G>A	ENSP00000398063:p.Met172Ile					SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.M172I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I	p.M172I			P31641	SC6A6_HUMAN			5	845	+			172					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.516G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408703	0.42715	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.73681	-0.77;-0.77;-0.77	4.89	4.89	0.63831	.	0.422227	0.27518	N	0.019004	T	0.44201	0.1282	N	0.00327	-1.64	0.46396	D	0.999026	B	0.02656	0.0	B	0.04013	0.001	T	0.46857	-0.9161	10	0.35671	T	0.21	.	18.0716	0.89408	0.0:0.0:1.0:0.0	.	172	P31641	SC6A6_HUMAN	I	172	ENSP00000398063:M172I;ENSP00000354107:M172I;ENSP00000401167:M172I	ENSP00000354107:M172I	M	+	3	0	SLC6A6	14464245	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.810000	0.55613	2.268000	0.75426	0.404000	0.27445	ATG		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		28	753	0	0	0	1	0	28	753				
MYO1C	4641	broad.mit.edu	37	17	1381256	1381256	+	Missense_Mutation	SNP	C	C	T	rs147805425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381256C>T	ENST00000575158.1	-	13	1482	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	MYO1C_ENST00000359786.5_Missense_Mutation_p.V471I|MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I|MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	438	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATACTGGACGGGCTCCCAC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19164	0.001		0.0	False		,,,				2504	0.0					ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1411-1413)Gtc>Atc		myosin IC		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	108.0	106.0	107.0		1411,1354,1306	5.1	1.0	17	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	471/1064,452/1045,436/1029	1381256	1,13005	2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381256C>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1306G>A	17.37:g.1381256C>T	ENSP00000459174:p.Val436Ile					MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I|MYO1C_ENST00000575158.1_Missense_Mutation_p.V436I	p.V471I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	13	1735	-			471			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1411G>A	CCDS11003.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.92	2.082513	0.36758	0.0	1.16E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.07	5.07	0.68467	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	N	0.05441	-0.05	0.54753	D	0.999989	B;B;B	0.32620	0.18;0.378;0.149	B;B;B	0.31337	0.052;0.128;0.031	T	0.70392	-0.4884	10	0.18276	T	0.48	.	17.7747	0.88503	0.0:1.0:0.0:0.0	.	447;471;452	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	I	471;452;452;436;447;436	ENSP00000352834:V471I;ENSP00000412197:V452I;ENSP00000354283:V436I;ENSP00000437685:V447I	ENSP00000352834:V471I	V	-	1	0	MYO1C	1328006	0.999000	0.42202	1.000000	0.80357	0.872000	0.50106	4.021000	0.57196	2.507000	0.84556	0.563000	0.77884	GTC		0.592	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			150	556	0	0	0	1	0	150	556				
AP3B1	8546	broad.mit.edu	37	5	77311268	77311268	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77311268C>A	ENST00000255194.6	-	26	3272	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C	AP3B1_ENST00000519295.1_Missense_Mutation_p.G984C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1033					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGGACTGCACCTACATTGGCT	0.388									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(3097-3099)Ggt>Tgt		adaptor-related protein complex 3, beta 1 subunit							122.0	116.0	118.0					5																	77311268		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77311268C>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3097G>T	5.37:g.77311268C>A	ENSP00000255194:p.Gly1033Cys					AP3B1_ENST00000519295.1_Missense_Mutation_p.G984C	p.G1033C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	26	3272	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1033					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.3097G>T	CCDS4041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268917|3.268917	0.59540|0.59540	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.56103|.	0.48;0.48|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.057286|.	0.64402|.	D|.	0.000002|.	T|.	0.73946|.	0.3652|.	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.51449|.	0.945|.	P|.	0.52823|.	0.71|.	T|.	0.72207|.	-0.4360|.	10|.	0.48119|.	T|.	0.1|.	-12.4687|-12.4687	19.0156|19.0156	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1033|.	O00203|.	AP3B1_HUMAN|.	C|Y	1033;984|132	ENSP00000255194:G1033C;ENSP00000430597:G984C|.	ENSP00000255194:G1033C|.	G|X	-|-	1|3	0|2	AP3B1|AP3B1	77347024|77347024	1.000000|1.000000	0.71417|0.71417	0.301000|0.301000	0.25044|0.25044	0.514000|0.514000	0.34195|0.34195	6.492000|6.492000	0.73654|0.73654	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GGT|TAG		0.388	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			99	445	1	0	6.50375e-52	1	8.08219e-52	99	445				
BSG	682	broad.mit.edu	37	19	582313	582313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:582313C>T	ENST00000333511.3	+	7	1147	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	BSG_ENST00000545507.2_Silent_p.D150D|BSG_ENST00000353555.4_Silent_p.D243D|BSG_ENST00000346916.4_Silent_p.D179D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	359	Poly-Asp.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATGACGACGCCGGCTCTG	0.642																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(1075-1077)gaC>gaT		basigin							27.0	32.0	31.0					19																	582313		2198	4294	6492	SO:0001819	synonymous_variant	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:582313C>T	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.1077C>T	19.37:g.582313C>T						BSG_ENST00000346916.4_Silent_p.D179D|BSG_ENST00000353555.4_Silent_p.D243D|BSG_ENST00000545507.2_Silent_p.D150D	p.D359D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1147	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	359			Poly-Asp.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	ENST00000333511.3	37	c.1077C>T	CCDS12033.1																																																																																				0.642	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		89	313	0	0	0	1	0	89	313				
NEK10	152110	broad.mit.edu	37	3	27326381	27326381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326381C>A	ENST00000429845.2	-	22	2223	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*|NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	621	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATGTTTTTCCTTCAAAGAA	0.328																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1861-1863)Gaa>Taa		NIMA-related kinase 10							78.0	87.0	84.0					3																	27326381		2198	4297	6495	SO:0001587	stop_gained	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27326381C>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1861G>T	3.37:g.27326381C>A	ENSP00000395849:p.Glu621*					NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*	p.E621*			Q6ZWH5	NEK10_HUMAN			22	2223	-			621			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	ENST00000429845.2	37	c.1861G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	43|43|43	10.472178|10.472178|10.472178	0.99411|0.99411|0.99411	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435;ENST00000396636|ENST00000435584|ENST00000424275	.|.|.	.|.|.	.|.|.	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|.	0.154036|.|.	0.53938|.|.	D|.|.	0.000041|.|.	.|T|T	.|0.66479|0.66479	.|0.2793|0.2793	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.68827|0.68827	.|-0.5306|-0.5306	.|3|3	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	15.0168|15.0168|15.0168	0.71591|0.71591|0.71591	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.|.	.|.|.	.|.|.	.|.|.	X|V|S	18;621;621|77|107	.|.|.	ENSP00000343847:E621X|.|.	E|G|R	-|-|-	1|2|3	0|0|2	NEK10|NEK10|NEK10	27301385|27301385|27301385	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.781000|0.781000|0.781000	0.44180|0.44180|0.44180	4.519000|4.519000|4.519000	0.60517|0.60517|0.60517	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	GAA|GGA|AGG		0.328	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		79	298	1	0	6.14238e-36	1	7.34322e-36	79	298				
BCL3	602	broad.mit.edu	37	19	45260657	45260657	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45260657C>T	ENST00000164227.5	+	5	1042	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	266					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				AGCGCGGTGCCGACATCGACG	0.687			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(796-798)gcC>gcT		B-cell CLL/lymphoma 3							22.0	17.0	19.0					19																	45260657		2202	4297	6499	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45260657C>T	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.798C>T	19.37:g.45260657C>T							p.A266A	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			5	1042	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	266						Silent	SNP	ENST00000164227.5	37	c.798C>T	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	4.325	0.059655	0.08339	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.71	-9.42	0.00610	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.1182	2.5814	0.04819	0.1967:0.4096:0.1633:0.2304	.	.	.	.	X	150	.	.	R	+	1	2	BCL3	49952497	0.000000	0.05858	0.087000	0.20705	0.384000	0.30261	-11.547000	0.00003	-3.317000	0.00189	0.305000	0.20034	CGA		0.687	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		5	43	0	0	0	1	0	5	43				
HCN4	10021	broad.mit.edu	37	15	73621943	73621943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73621943C>T	ENST00000261917.3	-	4	2554	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	521					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGGAGTCCAGGGACTGG	0.637																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1561-1563)Gac>Aac		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							72.0	65.0	67.0					15																	73621943		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73621943C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1561G>A	15.37:g.73621943C>T	ENSP00000261917:p.Asp521Asn						p.D521N	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	4	2554	-			521					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1561G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114948	0.77210	.	.	ENSG00000138622	ENST00000261917	D	0.96554	-4.05	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.96787	0.8951	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95483	0.8562	9	0.21014	T	0.42	.	16.5316	0.84362	0.0:1.0:0.0:0.0	.	521	Q9Y3Q4	HCN4_HUMAN	N	521	ENSP00000261917:D521N	ENSP00000261917:D521N	D	-	1	0	HCN4	71408996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.684000	0.84104	2.044000	0.60594	0.561000	0.74099	GAC		0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		84	317	0	0	0	1	0	84	317				
MSANTD3	91283	broad.mit.edu	37	9	103204445	103204445	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103204445G>T	ENST00000395067.2	+	2	496	c.225G>T	c.(223-225)gaG>gaT	p.E75D	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_Missense_Mutation_p.E75D|MSANTD3-TMEFF1_ENST00000502978.1_5'Flank|TMEFF1_ENST00000334943.6_5'Flank	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	75	Myb-like.									endometrium(2)|lung(2)	4						AGTGCTGGGAGAACATCAAGG	0.547																																						ENST00000395067.2																			0				endometrium(2)|lung(2)	4						c.(223-225)gaG>gaT		Myb/SANT-like DNA-binding domain containing 3							37.0	37.0	37.0					9																	103204445		2203	4300	6503	SO:0001583	missense	91283							g.chr9:103204445G>T	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.225G>T	9.37:g.103204445G>T	ENSP00000378506:p.Glu75Asp					MSANTD3_ENST00000374885.1_Missense_Mutation_p.E75D|MSANTD3_ENST00000489377.1_3'UTR	p.E75D	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1					2	496	+								B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.225G>T	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543878	0.65198	.	.	ENSG00000066697	ENST00000395067;ENST00000398977;ENST00000374885;ENST00000374886	.	.	.	5.92	3.78	0.43462	.	.	.	.	.	T	0.52869	0.1761	L	0.33710	1.025	0.36907	D	0.890696	D	0.63046	0.992	D	0.74348	0.983	T	0.55679	-0.8103	8	0.19590	T	0.45	-13.1716	4.6007	0.12352	0.4492:0.0:0.5508:0.0	.	75	Q96H12	CI030_HUMAN	D	75	.	ENSP00000364020:E75D	E	+	3	2	C9orf30	102244266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.408000	0.34668	1.366000	0.46076	0.655000	0.94253	GAG		0.547	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		19	204	1	0	1.56452e-12	1	1.68123e-12	19	204				
DGKK	139189	broad.mit.edu	37	X	50144126	50144126	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144126G>T	ENST00000376025.2	-	0	1379							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCTCCTACAGTCATCATGCA	0.458																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							60.0	50.0	53.0					X																	50144126		1919	4123	6042			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50144126G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50144126G>T										Q5KSL6	DGKK_HUMAN			0	1379	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		14	35	1	0	1.5842e-08	1	1.65642e-08	14	35				
DTX1	1840	broad.mit.edu	37	12	113496122	113496122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496122C>T	ENST00000257600.3	+	1	628	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	42	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCTACACGGCCACCGTGTGC	0.647																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(124-126)gCc>gTc		deltex homolog 1 (Drosophila)							87.0	77.0	80.0					12																	113496122		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496122C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.125C>T	12.37:g.113496122C>T	ENSP00000257600:p.Ala42Val						p.A42V	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	628	+			42			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.125C>T	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191844	0.94923	.	.	ENSG00000135144	ENST00000257600	T	0.44083	0.93	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.48003	0.1476	M	0.64404	1.975	0.49299	D	0.999773	P	0.49447	0.924	P	0.47673	0.554	T	0.54470	-0.8289	10	0.51188	T	0.08	-6.7008	14.8783	0.70513	0.0:1.0:0.0:0.0	.	42	Q86Y01	DTX1_HUMAN	V	42	ENSP00000257600:A42V	ENSP00000257600:A42V	A	+	2	0	DTX1	111980505	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.403000	0.66338	2.021000	0.59480	0.555000	0.69702	GCC		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			124	376	0	0	0	1	0	124	376				
CHMP2A	27243	broad.mit.edu	37	19	59065517	59065517	+	Silent	SNP	G	G	A	rs371618144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59065517G>A	ENST00000600118.1	-	1	488	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CHMP2A_ENST00000601220.1_Silent_p.A21A|CHMP2A_ENST00000312547.2_Silent_p.A21A			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	21					endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACGGTTCAGGGCCCTCTGGT	0.572																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(61-63)gcC>gcT		charged multivesicular body protein 2A							121.0	120.0	120.0					19																	59065517		2203	4300	6503	SO:0001819	synonymous_variant	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59065517G>A	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.63C>T	19.37:g.59065517G>A						CHMP2A_ENST00000601220.1_Silent_p.A21A|CHMP2A_ENST00000312547.2_Silent_p.A21A	p.A21A			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	1	488	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	21					B2R4W6|Q3ZTT0	Silent	SNP	ENST00000600118.1	37	c.63C>T	CCDS12986.1																																																																																				0.572	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		134	703	0	0	0	1	0	134	703				
FOXN4	121643	broad.mit.edu	37	12	109723184	109723184	+	Missense_Mutation	SNP	C	C	T	rs373055287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109723184C>T	ENST00000299162.5	-	8	930	c.826G>A	c.(826-828)Gac>Aac	p.D276N	FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	276					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D276N(1)|p.D96N(1)		large_intestine(5)|lung(9)|ovary(2)	16						TCCATCTTGTCGATGCGGGCC	0.612																																						ENST00000299162.5																			2	Substitution - Missense(2)	p.D276N(1)|p.D96N(1)	large_intestine(2)	large_intestine(5)|lung(9)|ovary(2)	16						c.(826-828)Gac>Aac		forkhead box N4		C	ASN/ASP	0,4406		0,0,2203	82.0	65.0	71.0		826	3.8	1.0	12		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXN4	NM_213596.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	276/518	109723184	1,13005	2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109723184C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.826G>A	12.37:g.109723184C>T	ENSP00000299162:p.Asp276Asn					FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	p.D276N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			8	930	-			276					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.826G>A	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.785985|2.785985	0.49997|0.49997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000139445|ENSG00000139445	ENST00000355216;ENST00000299162|ENST00000266856	D;D|.	0.95412|.	-3.7;-3.7|.	4.71|4.71	3.81|3.81	0.43845|0.43845	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59945|0.59945	0.2231|0.2231	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	P;P|.	0.52692|.	0.955;0.955|.	P;P|.	0.51079|.	0.658;0.557|.	T|T	0.63207|0.63207	-0.6689|-0.6689	10|6	0.14252|0.87932	T|D	0.57|0	-10.5193|-10.5193	12.1006|12.1006	0.53780|0.53780	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	276;276|.	A6H901;Q96NZ1|.	.;FOXN4_HUMAN|.	N|Q	96;276|234	ENSP00000347354:D96N;ENSP00000299162:D276N|.	ENSP00000299162:D276N|ENSP00000266856:R234Q	D|R	-|-	1|2	0|0	FOXN4|FOXN4	108207567|108207567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	7.783000|7.783000	0.85696|0.85696	1.109000|1.109000	0.41680|0.41680	0.555000|0.555000	0.69702|0.69702	GAC|CGA		0.612	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		7	161	0	0	0	1	0	7	161				
C2orf54	79919	broad.mit.edu	37	2	241829557	241829557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241829557C>T	ENST00000388934.4	-	3	917	c.759G>A	c.(757-759)ctG>ctA	p.L253L	C2orf54_ENST00000307486.8_Silent_p.L104L|C2orf54_ENST00000402775.2_Silent_p.L85L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	253										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCCTCGTGAGCAGGTAGTCAG	0.682																																						ENST00000307486.8																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(310-312)ctG>ctA		chromosome 2 open reading frame 54							34.0	40.0	38.0					2																	241829557		2068	4195	6263	SO:0001819	synonymous_variant	79919							g.chr2:241829557C>T	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.759G>A	2.37:g.241829557C>T						C2orf54_ENST00000402775.2_Silent_p.L85L|C2orf54_ENST00000388934.4_Silent_p.L253L	p.L104L			Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	3	410	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	253					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.312G>A	CCDS42839.1																																																																																				0.682	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		54	280	0	0	0	1	0	54	280				
RAI1	10743	broad.mit.edu	37	17	17696546	17696546	+	Missense_Mutation	SNP	C	C	T	rs370882080	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17696546C>T	ENST00000353383.1	+	3	753	c.284C>T	c.(283-285)cCg>cTg	p.P95L	RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	95					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGGGGAGGCCGGCTTTCCCT	0.711													C|||	3	0.000599042	0.0	0.0	5008	,	,		12657	0.002		0.0	False		,,,				2504	0.001					ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(283-285)cCg>cTg		retinoic acid induced 1							12.0	13.0	13.0					17																	17696546		2196	4282	6478	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696546C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.284C>T	17.37:g.17696546C>T	ENSP00000323074:p.Pro95Leu					RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	p.P95L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	753	+			95					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.284C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034783	0.19590	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.70045	-0.45;2.27;0.12	4.55	4.55	0.56014	.	0.292981	0.29602	N	0.011692	T	0.57562	0.2062	M	0.63843	1.955	0.41446	D	0.987957	P	0.39404	0.672	B	0.28553	0.091	T	0.66188	-0.5986	10	0.87932	D	0	.	10.6015	0.45369	0.0:0.9094:0.0:0.0906	.	95	Q7Z5J4	RAI1_HUMAN	L	95	ENSP00000323074:P95L;ENSP00000379120:P95L;ENSP00000261641:P95L	ENSP00000261641:P95L	P	+	2	0	RAI1	17637271	0.826000	0.29277	0.977000	0.42913	0.329000	0.28539	1.841000	0.39240	2.074000	0.62210	0.462000	0.41574	CCG		0.711	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		25	131	0	0	0	1	0	25	131				
ZNF101	94039	broad.mit.edu	37	19	19789533	19789533	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19789533A>C	ENST00000592502.1	+	3	240		c.e3-1		ZNF101_ENST00000415784.2_Splice_Site|ZNF101_ENST00000444249.2_Splice_Site			Q8IZC7	ZN101_HUMAN	zinc finger protein 101						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TCTACATTTTAGGAATCCAAT	0.358																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.e3-1		zinc finger protein 101							41.0	42.0	42.0					19																	19789533		2203	4300	6503	SO:0001630	splice_region_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19789533A>C	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.131-1A>C	19.37:g.19789533A>C						ZNF101_ENST00000444249.2_Splice_Site|ZNF101_ENST00000415784.2_Splice_Site				Q8IZC7	ZN101_HUMAN			3	240	+								C9JU83|Q0VDG9	Splice_Site	SNP	ENST00000592502.1	37		CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720090	0.30503	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3292	0.04231	0.5263:1.0E-4:1.0E-4:0.4736	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF101	19650533	0.412000	0.25392	0.638000	0.29380	0.638000	0.38207	1.917000	0.39996	0.263000	0.21812	0.260000	0.18958	.		0.358	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	Intron	42	159	0	0	0	1	0	42	159				
MMP2	4313	broad.mit.edu	37	16	55517011	55517011	+	Missense_Mutation	SNP	G	G	A	rs112710941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55517011G>A	ENST00000219070.4	+	2	853	c.344G>A	c.(343-345)cGc>cAc	p.R115H	MMP2_ENST00000570308.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H|MMP2_ENST00000543485.1_Missense_Mutation_p.R39H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	115	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TTCTTCCCTCGCAAGCCCAAG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18998	0.0		0.0	False		,,,				2504	0.0					ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(343-345)cGc>cAc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						87.0	80.0	83.0					16																	55517011		2198	4300	6498	SO:0001583	missense	0				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55517011G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.344G>A	16.37:g.55517011G>A	ENSP00000219070:p.Arg115His					MMP2_ENST00000570308.1_Missense_Mutation_p.R39H|MMP2_ENST00000543485.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H	p.R115H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	2	853	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	115			Collagenase-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.344G>A	CCDS10752.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.82	1.458337	0.26248	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80123	-1.34;-1.34;-1.34	4.79	3.83	0.44106	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.301229	0.38663	N	0.001605	T	0.72366	0.3451	L	0.37630	1.12	0.58432	D	0.999994	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.0	T	0.68804	-0.5312	10	0.51188	T	0.08	.	13.476	0.61308	0.077:0.0:0.923:0.0	.	65;115	E9PE45;P08253	.;MMP2_HUMAN	H	115;39;65	ENSP00000219070:R115H;ENSP00000444143:R39H;ENSP00000394237:R65H	ENSP00000219070:R115H	R	+	2	0	MMP2	54074512	1.000000	0.71417	0.993000	0.49108	0.051000	0.14879	6.718000	0.74713	1.145000	0.42336	-0.252000	0.11476	CGC		0.602	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			82	306	0	0	0	1	0	82	306				
LINGO3	645191	broad.mit.edu	37	19	2290688	2290688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2290688A>G	ENST00000585527.1	-	1	1335	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	363	LRRCT.					integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						ACGCTGCACGATCCACAGCAG	0.697																																						ENST00000585527.1																			0				lung(1)|urinary_tract(1)	2						c.(1087-1089)aTc>aCc		leucine rich repeat and Ig domain containing 3							24.0	26.0	25.0					19																	2290688		2068	4182	6250	SO:0001583	missense	645191					integral to membrane		g.chr19:2290688A>G	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1088T>C	19.37:g.2290688A>G	ENSP00000467753:p.Ile363Thr					LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T	p.I363T			P0C6S8	LIGO3_HUMAN			1	1335	-			363			LRRCT.			Missense_Mutation	SNP	ENST00000585527.1	37	c.1088T>C	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	a	15.84	2.950895	0.53186	.	.	ENSG00000220008	ENST00000404279	T	0.57107	0.42	4.3	4.3	0.51218	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.56645	0.1999	M	0.78801	2.425	0.58432	D	0.999999	B	0.20671	0.047	B	0.28385	0.089	T	0.61197	-0.7111	9	0.87932	D	0	.	12.5973	0.56476	1.0:0.0:0.0:0.0	.	363	P0C6S8	LIGO3_HUMAN	T	363	ENSP00000384979:I363T	ENSP00000384979:I363T	I	-	2	0	LINGO3	2241688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.933000	0.92911	1.576000	0.49790	0.379000	0.24179	ATC		0.697	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		6	123	0	0	0	1	0	6	123				
SRRM4	84530	broad.mit.edu	37	12	119568613	119568613	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568613C>A	ENST00000267260.4	+	8	1133	c.745C>A	c.(745-747)Ctt>Att	p.L249I	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	249	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCCAGATGCTTGGCTACCT	0.622																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(745-747)Ctt>Att		serine/arginine repetitive matrix 4							26.0	31.0	29.0					12																	119568613		1957	4144	6101	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568613C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.745C>A	12.37:g.119568613C>A	ENSP00000267260:p.Leu249Ile					SRRM4_ENST00000537597.1_3'UTR	p.L249I	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1133	+			249			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.745C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748443	0.49257	.	.	ENSG00000139767	ENST00000267260	T	0.23950	1.88	5.21	4.2	0.49525	.	0.579646	0.17230	N	0.181976	T	0.18299	0.0439	L	0.44542	1.39	0.24740	N	0.993043	B	0.29085	0.232	B	0.25759	0.063	T	0.09773	-1.0659	10	0.19590	T	0.45	-10.4697	7.4408	0.27181	0.0:0.7997:0.0:0.2003	.	249	A7MD48	SRRM4_HUMAN	I	249	ENSP00000267260:L249I	ENSP00000267260:L249I	L	+	1	0	SRRM4	118052996	1.000000	0.71417	0.998000	0.56505	0.367000	0.29736	2.194000	0.42668	2.445000	0.82738	0.448000	0.29417	CTT		0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		26	92	1	0	4.26978e-12	1	4.57227e-12	26	92				
PDE4DIP	9659	broad.mit.edu	37	1	144854181	144854181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144854181G>A	ENST00000369354.3	-	43	7172	c.6983C>T	c.(6982-6984)gCa>gTa	p.A2328V	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2464V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2328					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTAGTCCTTGCCTTCTTTAA	0.463			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7390-7392)gCa>gTa		phosphodiesterase 4D interacting protein							238.0	188.0	205.0					1																	144854181		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854181G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6983C>T	1.37:g.144854181G>A	ENSP00000358360:p.Ala2328Val					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2328V	p.A2464V			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	46	7429	-			2328					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7391C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.094288	0.76870	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.06528	3.42;3.29;3.5;3.56;3.45	4.09	4.09	0.47781	.	.	.	.	.	T	0.17066	0.0410	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.65140	0.791;0.932	T	0.01516	-1.1335	9	0.87932	D	0	.	14.3364	0.66592	0.0:0.0:1.0:0.0	.	2222;2328	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2222;2328;2328;2413;2464	ENSP00000327209:A2222V;ENSP00000358360:A2328V;ENSP00000358363:A2328V;ENSP00000435654:A2413V;ENSP00000358366:A2464V	ENSP00000327209:A2222V	A	-	2	0	PDE4DIP	143565538	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.924000	0.75823	2.044000	0.60594	0.442000	0.29010	GCA		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	183	0	0	0	1	0	5	183				
NUP214	8021	broad.mit.edu	37	9	134090667	134090667	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134090667T>C	ENST00000359428.5	+	31	5805	c.5661T>C	c.(5659-5661)agT>agC	p.S1887S	NUP214_ENST00000411637.2_Silent_p.S1877S|NUP214_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000451030.1_Silent_p.S1888S			P35658	NU214_HUMAN	nucleoporin 214kDa	1887	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTTTCTTCAGTGGCCTTGGAG	0.498			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(5659-5661)agT>agC		nucleoporin 214kDa							110.0	110.0	110.0					9																	134090667		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134090667T>C	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5661T>C	9.37:g.134090667T>C						NUP214_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000451030.1_Silent_p.S1888S|NUP214_ENST00000411637.2_Silent_p.S1877S	p.S1887S			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	31	5805	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1887			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.5661T>C	CCDS6940.1																																																																																				0.498	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		112	368	0	0	0	1	0	112	368				
CD38	952	broad.mit.edu	37	4	15780058	15780058	+	Silent	SNP	C	C	T	rs142149974	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15780058C>T	ENST00000226279.3	+	1	158	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	7					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCGAGTTCAGCCCGGTGTCCG	0.647																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(19-21)agC>agT		CD38 molecule							65.0	72.0	69.0					4																	15780058		2203	4300	6503	SO:0001819	synonymous_variant	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15780058C>T	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.21C>T	4.37:g.15780058C>T							p.S7S	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			1	158	+			7					O00121|O00122|Q96HY4	Silent	SNP	ENST00000226279.3	37	c.21C>T	CCDS3417.1																																																																																				0.647	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		125	526	0	0	0	1	0	125	526				
BAIAP2	10458	broad.mit.edu	37	17	79077823	79077823	+	Silent	SNP	G	G	A	rs148408272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79077823G>A	ENST00000321300.6	+	9	1074	c.981G>A	c.(979-981)ccG>ccA	p.P327P	BAIAP2_ENST00000575712.1_Silent_p.P327P|BAIAP2_ENST00000321280.7_Silent_p.P327P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000416299.2_Silent_p.P190P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	327					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGTCTCCTCCGCAGTCTCAGA	0.617																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(979-981)ccG>ccA		BAI1-associated protein 2							91.0	95.0	93.0					17																	79077823		2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79077823G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.981G>A	17.37:g.79077823G>A						BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000575712.1_Silent_p.P327P|BAIAP2_ENST00000321280.7_Silent_p.P327P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000416299.2_Silent_p.P190P	p.P327P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		9	1074	+	all_neural(118;0.101)		327					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.981G>A	CCDS11775.1																																																																																				0.617	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			83	378	0	0	0	1	0	83	378				
SYNE1	23345	broad.mit.edu	37	6	152737755	152737755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000423061.1_Silent_p.I1946I|SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000265368.4_Silent_p.I1939I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1939					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGAGCTCCCGATTTTCAGAT	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5815-5817)atC>atT		spectrin repeat containing, nuclear envelope 1							108.0	105.0	106.0					6																	152737755		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737755G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5817C>T	6.37:g.152737755G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000265368.4_Silent_p.I1939I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000423061.1_Silent_p.I1946I	p.I1939I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6418	-		Ovarian(120;0.0955)	1939					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.5817C>T	CCDS5236.2																																																																																				0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		89	444	0	0	0	1	0	89	444				
SON	6651	broad.mit.edu	37	21	34923064	34923064	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34923064G>A	ENST00000356577.4	+	3	2002	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T509T|SON_ENST00000300278.4_Silent_p.T509T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	509					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACCTGTGACGACGACAGAGT	0.582																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1525-1527)acG>acA		SON DNA binding protein							138.0	141.0	140.0					21																	34923064		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923064G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1527G>A	21.37:g.34923064G>A						SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000300278.4_Silent_p.T509T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T509T	p.T509T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2002	+			509					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.1527G>A	CCDS13629.1																																																																																				0.582	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		82	716	0	0	0	1	0	82	716				
KIF18B	146909	broad.mit.edu	37	17	43005605	43005605	+	Missense_Mutation	SNP	C	C	T	rs200544188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43005605C>T	ENST00000593135.1	-	13	2162	c.2065G>A	c.(2065-2067)Gtt>Att	p.V689I	KIF18B_ENST00000587309.1_Missense_Mutation_p.V701I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	701					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCTGGGCAAACGCGAGGGGAA	0.652													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16019	0.0		0.001	False		,,,				2504	0.0					ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(2101-2103)Gtt>Att		kinesin family member 18B		C	ILE/VAL	8,4022		0,8,2007	27.0	32.0	30.0		2074	-4.4	0.0	17		30	0,8318		0,0,4159	yes	missense	KIF18B	NM_001080443.1	29	0,8,6166	TT,TC,CC		0.0,0.1985,0.0648	benign	692/856	43005605	8,12340	2015	4159	6174	SO:0001583	missense	146909							g.chr17:43005605C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2065G>A	17.37:g.43005605C>T	ENSP00000465992:p.Val689Ile					KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I|KIF18B_ENST00000593135.1_Missense_Mutation_p.V689I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I	p.V701I	NM_001264573.1	NP_001251503.1					13	2124	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.2101G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516827	0.00151	0.001985	0.0	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.71579	-0.58;-0.58	4.39	-4.36	0.03645	.	.	.	.	.	T	0.39989	0.1099	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.31641	-0.9936	9	0.08179	T	0.78	.	3.1988	0.06643	0.1292:0.4607:0.1946:0.2155	.	701;698;710	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	701;692;701	ENSP00000412798:V701I;ENSP00000341466:V692I	ENSP00000341466:V692I	V	-	1	0	KIF18B	40361131	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.120000	0.03273	-0.762000	0.04664	-1.486000	0.00981	GTT		0.652	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		6	170	0	0	0	1	0	6	170				
SH2B1	25970	broad.mit.edu	37	16	28877932	28877932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28877932C>T	ENST00000322610.8	+	4	956	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R173W|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	173	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGCAGTGGCGGGGGACCGT	0.642																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(517-519)Cgg>Tgg		SH2B adaptor protein 1							78.0	74.0	75.0					16																	28877932		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877932C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.517C>T	16.37:g.28877932C>T	ENSP00000321221:p.Arg173Trp					SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R173W|SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W	p.R173W	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			1	3808	+			173			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.517C>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290829	0.59976	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.60171	0.21;0.23;0.25;0.25	4.48	3.45	0.39498	.	0.000000	0.64402	D	0.000014	T	0.57359	0.2048	N	0.19112	0.55	0.40827	D	0.98355	D;D;D	0.76494	0.986;0.999;0.99	B;D;B	0.67548	0.432;0.952;0.249	T	0.62497	-0.6842	10	0.87932	D	0	-25.0824	9.5837	0.39504	0.4051:0.5949:0.0:0.0	.	173;173;173	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	W	173	ENSP00000321221:R173W;ENSP00000352232:R173W;ENSP00000378903:R173W;ENSP00000337163:R173W	ENSP00000321221:R173W	R	+	1	2	SH2B1	28785433	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.960000	0.29253	2.055000	0.61198	0.455000	0.32223	CGG		0.642	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		131	433	0	0	0	1	0	131	433				
LRP1B	53353	broad.mit.edu	37	2	141259311	141259311	+	Missense_Mutation	SNP	C	C	A	rs139867739		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141259311C>A	ENST00000389484.3	-	55	9766	c.8795G>T	c.(8794-8796)aGt>aTt	p.S2932I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2932	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACTTTCTTACTCAAACATTC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8794-8796)aGt>aTt		low density lipoprotein receptor-related protein 1B							121.0	124.0	123.0					2																	141259311		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259311C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8795G>T	2.37:g.141259311C>A	ENSP00000374135:p.Ser2932Ile	TSP Lung(27;0.18)					p.S2932I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	55	9766	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2932			EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8795G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275321	0.80580	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87491	-2.26	5.71	5.71	0.89125	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.058264	0.64402	U	0.000002	T	0.80008	0.4545	N	0.04116	-0.275	0.40241	D	0.977951	D	0.56521	0.976	P	0.47864	0.559	T	0.81662	-0.0831	10	0.30854	T	0.27	.	19.8494	0.96733	0.0:1.0:0.0:0.0	.	2932	Q9NZR2	LRP1B_HUMAN	I	2932;2870	ENSP00000374135:S2932I	ENSP00000374135:S2932I	S	-	2	0	LRP1B	140975781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.939000	0.70179	2.705000	0.92388	0.585000	0.79938	AGT		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	353	1	0	5.16669e-11	1	5.49905e-11	10	353				
TRIM24	8805	broad.mit.edu	37	7	138239457	138239457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239457G>A	ENST00000343526.4	+	9	1491	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	426					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTAGTAATCGAGGATAAAGA	0.363																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1276-1278)Gag>Aag		tripartite motif containing 24							70.0	74.0	73.0					7																	138239457		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138239457G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1276G>A	7.37:g.138239457G>A	ENSP00000340507:p.Glu426Lys					TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR	p.E426K			O15164	TIF1A_HUMAN			9	1491	+			426					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1276G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733746	0.89482	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.79845	-1.31;-1.23	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.74881	2.28	0.52501	D	0.999958	P;D	0.64830	0.945;0.994	P;D	0.67725	0.637;0.953	D	0.88917	0.3363	10	0.48119	T	0.1	-21.5728	18.8417	0.92186	0.0:0.0:1.0:0.0	.	426;426	O15164;O15164-2	TIF1A_HUMAN;.	K	426;337;426;384	ENSP00000340507:E426K;ENSP00000390829:E426K	ENSP00000340507:E426K	E	+	1	0	TRIM24	137889997	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.716000	0.74702	2.544000	0.85801	0.557000	0.71058	GAG		0.363	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		78	381	0	0	0	1	0	78	381				
ZRANB3	84083	broad.mit.edu	37	2	136033212	136033212	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136033212T>G	ENST00000264159.6	-	9	1196	c.1080A>C	c.(1078-1080)gaA>gaC	p.E360D	ZRANB3_ENST00000401392.1_Missense_Mutation_p.E360D|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	360	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ATACCTTATTTTCGATGACTG	0.318																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1078-1080)gaA>gaC		zinc finger, RAN-binding domain containing 3							55.0	51.0	52.0					2																	136033212		1835	4084	5919	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136033212T>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1080A>C	2.37:g.136033212T>G	ENSP00000264159:p.Glu360Asp					ZRANB3_ENST00000264159.6_Missense_Mutation_p.E360D|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D	p.E360D			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	9	1292	-			360			Helicase C-terminal.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1080A>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183042	0.57800	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.92699	-3.09;-3.09;-3.09	5.21	2.83	0.33086	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	N	0.21240	0.645	0.44789	D	0.997797	P;P;P	0.47302	0.893;0.802;0.454	B;P;P	0.49477	0.428;0.612;0.465	D	0.84716	0.0737	10	0.52906	T	0.07	3.0918	8.4771	0.33021	0.0:0.3001:0.0:0.6999	.	300;360;360	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	D	360;360;360;300	ENSP00000383979:E360D;ENSP00000264159:E360D;ENSP00000441320:E360D	ENSP00000264159:E360D	E	-	3	2	ZRANB3	135749682	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	1.787000	0.38704	0.309000	0.22966	-0.415000	0.06103	GAA		0.318	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		10	87	0	0	0	1	0	10	87				
TSHR	7253	broad.mit.edu	37	14	81554371	81554371	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81554371C>A	ENST00000541158.2	+	5	713	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TSHR_ENST00000554263.1_Splice_Site_p.L131I|TSHR_ENST00000554435.1_Splice_Site_p.L131I|TSHR_ENST00000342443.6_Splice_Site_p.L131I|TSHR_ENST00000298171.2_Splice_Site_p.L131I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	131					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCTAAAGTTCCTGTAAGTATT	0.458			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.e5+1		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						96.0	83.0	88.0					14																	81554371		2203	4300	6503	SO:0001630	splice_region_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81554371C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.392+1C>A	14.37:g.81554371C>A						TSHR_ENST00000298171.2_Splice_Site_p.L131_splice|TSHR_ENST00000554435.1_Splice_Site_p.L131_splice|TSHR_ENST00000342443.6_Splice_Site_p.L131_splice|TSHR_ENST00000554263.1_Splice_Site_p.L131_splice	p.L131_splice			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	5	713	+			131					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Splice_Site	SNP	ENST00000541158.2	37	c.392_splice	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412972	0.83449	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.90145	3.09	0.58432	D	0.999999	D;B;D;P	0.67145	0.985;0.321;0.996;0.637	D;P;D;P	0.75484	0.986;0.631;0.973;0.546	D	0.96868	0.9637	10	0.46703	T	0.11	.	15.6391	0.76981	0.0:1.0:0.0:0.0	.	131;131;131;131	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	I	131	ENSP00000441235:L131I;ENSP00000340113:L131I;ENSP00000298171:L131I;ENSP00000451202:L131I;ENSP00000450549:L131I	ENSP00000298171:L131I	L	+	1	0	TSHR	80624124	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.601000	0.61090	2.764000	0.94973	0.655000	0.94253	CTT		0.458	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	Missense_Mutation	55	224	1	0	7.89702e-26	1	9.07718e-26	55	224				
POR	5447	broad.mit.edu	37	7	75609862	75609862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609862G>A	ENST00000450476.1	+	1	45	c.35G>A	c.(34-36)gGa>gAa	p.G12E	POR_ENST00000419840.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000461988.1_Intron|POR_ENST00000439269.1_5'Flank			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	0					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CCTCCCTGGGGACTCCAGATC	0.637																																						ENST00000450476.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(34-36)gGa>gAa		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)																																			SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75609862G>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000450476.1:c.35G>A	7.37:g.75609862G>A	ENSP00000416572:p.Gly12Glu					POR_ENST00000461988.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000419840.1_Intron	p.G12E			P16435	NCPR_HUMAN			1	45	+			0					Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000450476.1	37	c.35G>A		.	.	.	.	.	.	.	.	.	.	G	14.50	2.555140	0.45487	.	.	ENSG00000127948	ENST00000450476	T	0.03094	4.05	3.16	-5.79	0.02354	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.19775	N	0.999955	P	0.34815	0.47	B	0.23574	0.047	T	0.39502	-0.9611	8	0.87932	D	0	.	0.3351	0.00325	0.374:0.1491:0.2365:0.2404	.	12	E7EVY7	.	E	12	ENSP00000416572:G12E	ENSP00000416572:G12E	G	+	2	0	POR	75447798	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.066000	0.03454	-1.195000	0.02680	0.465000	0.42564	GGA		0.637	POR-202	KNOWN	basic	protein_coding	protein_coding		NM_000941		62	251	0	0	0	1	0	62	251				
PLXNA4	91584	broad.mit.edu	37	7	132193105	132193105	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193105C>A	ENST00000359827.3	-	2	1310	c.348G>T	c.(346-348)aaG>aaT	p.K116N	PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N			Q9HCM2	PLXA4_HUMAN	plexin A4	116	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGGAGCATCTTGTTGACAT	0.572																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(346-348)aaG>aaT		plexin A4							56.0	54.0	55.0					7																	132193105		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193105C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.348G>T	7.37:g.132193105C>A	ENSP00000352882:p.Lys116Asn					PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N	p.K116N			Q9HCM2	PLXA4_HUMAN			2	1310	-			116			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.348G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963128	0.53507	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.39	3.23	0.37069	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000003	T	0.30823	0.0777	M	0.91249	3.19	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.05517	-1.0880	10	0.87932	D	0	.	6.3108	0.21164	0.0:0.6125:0.0:0.3874	.	116;116;116	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	N	116	ENSP00000323194:K116N;ENSP00000352882:K116N;ENSP00000392772:K116N;ENSP00000367800:K116N	ENSP00000323194:K116N	K	-	3	2	PLXNA4	131843645	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.547000	0.23299	1.271000	0.44313	0.462000	0.41574	AAG		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		50	217	1	0	2.56175e-15	1	2.79687e-15	50	217				
CCT3	7203	broad.mit.edu	37	1	156303409	156303409	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156303409T>C	ENST00000295688.3	-	5	513	c.233A>G	c.(232-234)aAg>aGg	p.K78R	CCT3_ENST00000472765.2_Missense_Mutation_p.K33R|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000368261.3_Missense_Mutation_p.K33R	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	78					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GATCATGGACTTGGCCGCTGG	0.438																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(232-234)aAg>aGg		chaperonin containing TCP1, subunit 3 (gamma)							120.0	121.0	121.0					1																	156303409		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156303409T>C	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.233A>G	1.37:g.156303409T>C	ENSP00000295688:p.Lys78Arg					CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000368261.3_Missense_Mutation_p.K33R|CCT3_ENST00000472765.2_Missense_Mutation_p.K33R	p.K78R	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			5	513	-	Hepatocellular(266;0.158)		78					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.233A>G	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	T	31	5.095880	0.94197	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000446905;ENST00000478640;ENST00000415548	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.84948	2.725	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.97110	0.929;1.0;0.984	D	0.90355	0.4369	10	0.87932	D	0	-18.78	12.6112	0.56552	0.0:0.0:0.0:1.0	.	40;78;78	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	R	78;40;33;33;102;78;64;57;78	ENSP00000295688:K78R;ENSP00000357242:K40R;ENSP00000357244:K33R;ENSP00000431543:K33R;ENSP00000413308:K102R;ENSP00000434232:K78R;ENSP00000388799:K64R;ENSP00000435026:K57R;ENSP00000413431:K78R	ENSP00000295688:K78R	K	-	2	0	CCT3	154570033	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.394000	0.79862	2.234000	0.73211	0.528000	0.53228	AAG		0.438	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		11	529	0	0	0	1	0	11	529				
SAMD8	142891	broad.mit.edu	37	10	76936003	76936003	+	Intron	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76936003T>C	ENST00000542569.1	+	5	1046				SAMD8_ENST00000372690.3_Intron|SAMD8_ENST00000372687.4_Silent_p.R324R	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTTCTATGCGTATTAGGTAAC	0.443																																						ENST00000372687.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(970-972)cgT>cgC		sterile alpha motif domain containing 8							193.0	169.0	177.0					10																	76936003		2203	4300	6503	SO:0001627	intron_variant	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76936003T>C	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.943+29T>C	10.37:g.76936003T>C						SAMD8_ENST00000372690.3_Intron|SAMD8_ENST00000542569.1_Intron	p.R324R			Q96LT4	SAMD8_HUMAN			5	1057	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		0					Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.972T>C	CCDS53543.1																																																																																				0.443	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		105	539	0	0	0	1	0	105	539				
MS4A2	2206	broad.mit.edu	37	11	59857283	59857283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857283G>A	ENST00000278888.3	+	2	277	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	59					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAAAGAGCAGGAGTTCCTGGG	0.463																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(175-177)Gag>Aag		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						69.0	68.0	68.0					11																	59857283		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857283G>A	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.175G>A	11.37:g.59857283G>A	ENSP00000278888:p.Glu59Lys						p.E59K	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			2	277	+		all_epithelial(135;0.245)	59					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.175G>A	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761028	0.49468	.	.	ENSG00000149534	ENST00000278888	T	0.14266	2.52	4.41	2.47	0.30058	.	0.417922	0.25402	N	0.030940	T	0.13841	0.0335	L	0.32530	0.975	0.34137	D	0.665927	P	0.48834	0.916	P	0.48166	0.569	T	0.22243	-1.0222	9	.	.	.	-17.7271	10.8682	0.46869	0.0:0.3632:0.6368:0.0	.	59	Q01362	FCERB_HUMAN	K	59	ENSP00000278888:E59K	.	E	+	1	0	MS4A2	59613859	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.379000	0.44318	0.748000	0.32831	0.650000	0.86243	GAG		0.463	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			67	212	0	0	0	1	0	67	212				
ALPK3	57538	broad.mit.edu	37	15	85407773	85407773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85407773G>A	ENST00000258888.5	+	12	5373	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1736	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGTTCTCGGGAATGGGGCTG	0.547																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(5206-5208)Gaa>Aaa		alpha-kinase 3							110.0	96.0	101.0					15																	85407773		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85407773G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5206G>A	15.37:g.85407773G>A	ENSP00000258888:p.Glu1736Lys						p.E1736K	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	5373	+			1736			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.5206G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678367	0.88542	.	.	ENSG00000136383	ENST00000258888	T	0.06449	3.3	5.62	4.69	0.59074	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.642960	0.15699	N	0.249015	T	0.09247	0.0228	N	0.22421	0.69	0.28334	N	0.921641	B;P	0.40534	0.437;0.72	B;P	0.47118	0.257;0.538	T	0.08126	-1.0737	10	0.72032	D	0.01	-1.4623	13.9844	0.64324	0.0:0.1588:0.8412:0.0	.	37;1736	B4DU37;Q96L96	.;ALPK3_HUMAN	K	1736	ENSP00000258888:E1736K	ENSP00000258888:E1736K	E	+	1	0	ALPK3	83208777	1.000000	0.71417	0.972000	0.41901	0.918000	0.54935	3.720000	0.54933	1.335000	0.45486	0.563000	0.77884	GAA		0.547	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		78	362	0	0	0	1	0	78	362				
INADL	10207	broad.mit.edu	37	1	62366960	62366960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62366960G>A	ENST00000371158.2	+	24	3324	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	INADL_ENST00000316485.6_Silent_p.E1070E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1070	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATAGTGTTGAGATTTTTAGAG	0.338																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3208-3210)gaG>gaA		InaD-like (Drosophila)							85.0	90.0	88.0					1																	62366960		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62366960G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3210G>A	1.37:g.62366960G>A						INADL_ENST00000316485.6_Silent_p.E1070E	p.E1070E	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			24	3324	+			1070			PDZ 6.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.3210G>A	CCDS617.2																																																																																				0.338	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		32	255	0	0	0	1	0	32	255				
ZNF470	388566	broad.mit.edu	37	19	57088168	57088168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088168G>A	ENST00000330619.8	+	6	1057	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(370-372)aGa>aAa		zinc finger protein 470							65.0	68.0	67.0					19																	57088168		2202	4298	6500	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088168G>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.371G>A	19.37:g.57088168G>A	ENSP00000333223:p.Arg124Lys					ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K|ZNF470_ENST00000601902.1_Intron	p.R124K	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1057	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	124					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.371G>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328844	0.05314	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06142	3.34;3.34	4.03	1.74	0.24563	.	.	.	.	.	T	0.07908	0.0198	L	0.31752	0.955	0.09310	N	1	P	0.44690	0.841	P	0.54210	0.745	T	0.29731	-1.0002	9	0.11794	T	0.64	.	6.0467	0.19764	0.2623:0.0:0.7377:0.0	.	124	Q6ECI4	ZN470_HUMAN	K	124	ENSP00000375590:R124K;ENSP00000333223:R124K	ENSP00000333223:R124K	R	+	2	0	ZNF470	61779980	0.003000	0.15002	0.288000	0.24862	0.032000	0.12392	0.351000	0.20096	0.844000	0.35094	0.585000	0.79938	AGA		0.363	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		83	320	0	0	0	1	0	83	320				
ACKR4	51554	broad.mit.edu	37	3	132320091	132320091	+	Missense_Mutation	SNP	G	G	A	rs139794831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132320091G>A	ENST00000249887.2	+	2	946	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	284					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CATGGACATCGCCATCCAAGT	0.443																																						ENST00000249887.2																			0											c.(850-852)Gcc>Acc		atypical chemokine receptor 4		G	THR/ALA,,THR/ALA	1,4403	2.1+/-5.4	0,1,2201	175.0	171.0	172.0		850,,850	5.6	1.0	3	dbSNP_134	172	0,8596		0,0,4298	no	missense,intron,missense	CCRL1,ACAD11	NM_016557.2,NM_032169.4,NM_178445.1	58,,58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign	284/351,,284/351	132320091	1,12999	2202	4298	6500	SO:0001583	missense	51554							g.chr3:132320091G>A	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.850G>A	3.37:g.132320091G>A	ENSP00000249887:p.Ala284Thr					ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	p.A284T	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	946	+								B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.850G>A	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218322	0.79464	2.27E-4	0.0	ENSG00000129048	ENST00000249887	T	0.38401	1.14	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.108734	0.64402	D	0.000006	T	0.57636	0.2067	M	0.73598	2.24	0.58432	D	0.999995	D	0.89917	1.0	D	0.72625	0.978	T	0.55244	-0.8171	10	0.36615	T	0.2	.	12.8238	0.57708	0.0745:0.0:0.9255:0.0	.	284	Q9NPB9	CCRL1_HUMAN	T	284	ENSP00000249887:A284T	ENSP00000249887:A284T	A	+	1	0	CCRL1	133802781	1.000000	0.71417	0.965000	0.40720	0.799000	0.45148	8.061000	0.89467	2.640000	0.89533	0.655000	0.94253	GCC		0.443	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		143	1426	0	0	0	1	0	143	1426				
ABLIM1	3983	broad.mit.edu	37	10	116417899	116417899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116417899C>A	ENST00000277895.5	-	1	158	c.61G>T	c.(61-63)Gtc>Ttc	p.V21F	snoU13_ENST00000458910.1_RNA|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	21					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GATGAGGTGACTTTGCTTTTC	0.527																																						ENST00000277895.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(61-63)Gtc>Ttc		actin binding LIM protein 1							115.0	117.0	116.0					10																	116417899		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116417899C>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.61G>T	10.37:g.116417899C>A	ENSP00000277895:p.Val21Phe					ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	p.V21F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	1	158	-		Colorectal(252;0.0373)|Breast(234;0.231)	21					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.61G>T	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130659	0.37630	.	.	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.30981	1.51	5.77	3.69	0.42338	.	1.498440	0.04411	N	0.366045	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999999	B	0.26400	0.148	B	0.21360	0.034	T	0.18272	-1.0342	10	0.66056	D	0.02	.	8.7105	0.34380	0.0:0.7413:0.1546:0.1041	.	21	O14639	ABLM1_HUMAN	F	21	ENSP00000277895:V21F	ENSP00000277895:V21F	V	-	1	0	ABLIM1	116407889	0.028000	0.19301	0.282000	0.24776	0.833000	0.47200	1.322000	0.33689	1.443000	0.47586	0.650000	0.86243	GTC		0.527	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			101	472	1	0	3.65642e-31	1	4.30041e-31	101	472				
PLEKHA1	59338	broad.mit.edu	37	10	124152810	124152810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124152810C>A	ENST00000368990.3	+	2	225	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.L32M	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	32	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTACTTCATACTGGATACCAG	0.363																																						ENST00000368988.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(94-96)Ctg>Atg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1							85.0	87.0	86.0					10																	124152810		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124152810C>A	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.94C>A	10.37:g.124152810C>A	ENSP00000357986:p.Leu32Met					PLEKHA1_ENST00000368990.3_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000494222.1_3'UTR	p.L32M			Q9HB21	PKHA1_HUMAN			2	217	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	32			PH 1.		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.94C>A	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170764	0.78452	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	6.08	4.25	0.50352	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	0.983;1.0	D;D	0.91635	0.995;0.999	D	0.95196	0.8312	10	0.87932	D	0	-14.4662	12.7713	0.57423	0.0:0.8684:0.0:0.1316	.	32;32	B3KQ55;Q9HB21	.;PKHA1_HUMAN	M	32	ENSP00000357986:L32M;ENSP00000357985:L32M;ENSP00000357984:L32M;ENSP00000438608:L32M;ENSP00000376547:L32M;ENSP00000394416:L32M	ENSP00000357984:L32M	L	+	1	2	PLEKHA1	124142800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.991000	0.70602	0.917000	0.36895	-0.229000	0.12294	CTG		0.363	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		47	226	1	0	4.21674e-32	1	4.97474e-32	47	226				
SRRD	402055	broad.mit.edu	37	22	26887573	26887573	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26887573T>C	ENST00000215917.7	+	7	969	c.955T>C	c.(955-957)Tat>Cat	p.Y319H	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	319					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGAACCAGATTATCAGGACTG	0.443																																						ENST00000215917.6																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(955-957)Tat>Cat		SRR1 domain containing							78.0	75.0	76.0					22																	26887573		1886	4124	6010	SO:0001583	missense	402055				rhythmic process			g.chr22:26887573T>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.955T>C	22.37:g.26887573T>C	ENSP00000215917:p.Tyr319His					TFIP11_ENST00000407690.1_3'UTR	p.Y319H	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			7	969	+			319					Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.955T>C	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089490	0.76756	.	.	ENSG00000100104	ENST00000215917	T	0.62788	-0.0	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83602	0.0129	10	0.87932	D	0	-21.2371	14.7198	0.69297	0.0:0.0:0.0:1.0	.	319;312	Q9UH36;B4DF37	SRR1L_HUMAN;.	H	319	ENSP00000215917:Y319H	ENSP00000215917:Y319H	Y	+	1	0	SRRD	25217573	1.000000	0.71417	0.036000	0.18154	0.989000	0.77384	5.459000	0.66685	2.251000	0.74343	0.528000	0.53228	TAT		0.443	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		12	306	0	0	0	1	0	12	306				
ZNF346	23567	broad.mit.edu	37	5	176477892	176477892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477892G>A	ENST00000358149.3	+	5	701	c.658G>A	c.(658-660)Gca>Aca	p.A220T	ZNF346_ENST00000503425.1_Missense_Mutation_p.A188T|ZNF346_ENST00000512315.1_Intron|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000503039.1_Missense_Mutation_p.A245T	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	220					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAACTAATGGCACGCTATGG	0.562																																						ENST00000503039.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14						c.(733-735)Gca>Aca		zinc finger protein 346							96.0	87.0	90.0					5																	176477892		2203	4300	6503	SO:0001583	missense	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176477892G>A	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.658G>A	5.37:g.176477892G>A	ENSP00000350869:p.Ala220Thr					ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000358149.3_Missense_Mutation_p.A220T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Missense_Mutation_p.A188T	p.A245T			Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	737	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	220					B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	c.733G>A	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487681	0.64074	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.21	5.21	0.72293	.	0.218203	0.47852	D	0.000208	T	0.36826	0.0981	L	0.27053	0.805	0.38824	D	0.955696	P;P;D;P	0.57571	0.852;0.911;0.98;0.929	B;B;P;B	0.49047	0.351;0.288;0.599;0.316	T	0.15206	-1.0445	10	0.32370	T	0.25	.	12.1606	0.54101	0.0784:0.0:0.9216:0.0	.	122;188;245;220	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	T	220;122;188;245;236;245	ENSP00000350869:A220T;ENSP00000423515:A122T;ENSP00000421212:A188T;ENSP00000261948:A245T;ENSP00000425725:A236T;ENSP00000424495:A245T	ENSP00000261948:A245T	A	+	1	0	ZNF346	176410498	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.441000	0.66569	2.405000	0.81733	0.655000	0.94253	GCA		0.562	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		82	324	0	0	0	1	0	82	324				
ZNF860	344787	broad.mit.edu	37	3	32031577	32031577	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031577C>T	ENST00000360311.4	+	2	1555	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TAGGAGAATTCATACTGGAGA	0.378																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1006-1008)Cat>Tat		zinc finger protein 860							32.0	31.0	31.0					3																	32031577		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031577C>T	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1006C>T	3.37:g.32031577C>T	ENSP00000373274:p.His336Tyr						p.H336Y	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1555	+			336					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1006C>T	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187981	0.57909	.	.	ENSG00000197385	ENST00000360311	T	0.67523	-0.27	0.345	0.345	0.16011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67859	0.2938	M	0.89904	3.07	0.25865	N	0.983776	P	0.50369	0.934	B	0.40864	0.342	T	0.63171	-0.6697	8	.	.	.	.	6.4437	0.21865	0.0:0.9998:0.0:2.0E-4	.	336	A6NHJ4	ZN860_HUMAN	Y	336	ENSP00000373274:H336Y	.	H	+	1	0	ZNF860	32006581	0.999000	0.42202	0.537000	0.28052	0.518000	0.34316	5.264000	0.65513	0.392000	0.25172	0.393000	0.25936	CAT		0.378	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			34	181	0	0	0	1	0	34	181				
OR5B12	390191	broad.mit.edu	37	11	58206921	58206921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58206921G>A	ENST00000302572.2	-	1	725	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGAAAAGGCCTTCTGGCG	0.423																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(703-705)gCc>gTc		olfactory receptor, family 5, subfamily B, member 12							78.0	75.0	76.0					11																	58206921		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206921G>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.704C>T	11.37:g.58206921G>A	ENSP00000306657:p.Ala235Val						p.A235V	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	725	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	235					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.704C>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016010	0.75161	.	.	ENSG00000172362	ENST00000302572	T	0.00342	8.03	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.139797	0.32852	N	0.005562	T	0.00724	0.0024	M	0.80847	2.515	0.45867	D	0.998727	P	0.43169	0.8	P	0.55161	0.77	T	0.74853	-0.3523	10	0.62326	D	0.03	-24.8721	16.2624	0.82553	0.0:0.0:1.0:0.0	.	235	Q96R08	OR5BC_HUMAN	V	235	ENSP00000306657:A235V	ENSP00000306657:A235V	A	-	2	0	OR5B12	57963497	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.742000	0.55097	2.383000	0.81215	0.462000	0.41574	GCC		0.423	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		66	272	0	0	0	1	0	66	272				
IDH3A	3419	broad.mit.edu	37	15	78458537	78458537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78458537C>A	ENST00000299518.2	+	10	993	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	304					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CATGGCGAATCCCACAGCCCT	0.507																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(910-912)Ccc>Acc		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						174.0	149.0	158.0					15																	78458537		2196	4293	6489	SO:0001583	missense	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78458537C>A		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.910C>A	15.37:g.78458537C>A	ENSP00000299518:p.Pro304Thr					IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T	p.P304T	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			10	993	+			304					D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	c.910C>A	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217635	0.95104	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	D;D	0.81996	-1.56;-1.56	5.7	5.7	0.88788	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97303	0.9932	10	0.87932	D	0	-16.5781	18.8361	0.92164	0.0:1.0:0.0:0.0	.	269;254;304	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	T	304;195	ENSP00000299518:P304T;ENSP00000387506:P195T	ENSP00000299518:P304T	P	+	1	0	IDH3A	76245592	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.741000	0.84997	2.681000	0.91329	0.655000	0.94253	CCC		0.507	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		122	507	1	0	2.81171e-42	1	3.42249e-42	122	507				
GGA1	26088	broad.mit.edu	37	22	38019351	38019351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38019351G>T	ENST00000343632.4	+	8	1013	c.627G>T	c.(625-627)gaG>gaT	p.E209D	GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000381756.5_Missense_Mutation_p.E226D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D|GGA1_ENST00000406772.1_Missense_Mutation_p.E136D	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	209	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCGGATGGAGAAGATCTCGA	0.587											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(406-408)gaG>gaT		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							185.0	178.0	181.0					22																	38019351		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38019351G>T	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.627G>T	22.37:g.38019351G>T	ENSP00000341344:p.Glu209Asp		OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	GGA1_ENST00000381756.5_Missense_Mutation_p.E226D|GGA1_ENST00000343632.4_Missense_Mutation_p.E209D|GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D	p.E136D	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			9	1060	+	Melanoma(58;0.0574)		209			Interaction with ARF3.|VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.408G>T	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256362	0.80246	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.05	0.359	0.16088	GAT (2);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.87180	2.865	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.875	D;D;P	0.91635	0.999;0.995;0.627	T	0.61884	-0.6971	10	0.27082	T	0.32	-29.7801	10.6864	0.45846	0.3379:0.0:0.6621:0.0	.	226;209;209	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	D	209;226;209;176;201;136	ENSP00000341344:E209D;ENSP00000371175:E226D;ENSP00000321288:E209D;ENSP00000338647:E176D;ENSP00000390416:E201D;ENSP00000385287:E136D	ENSP00000321288:E209D	E	+	3	2	GGA1	36349297	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.076000	0.57591	0.159000	0.19401	0.563000	0.77884	GAG		0.587	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		177	980	1	0	1.73106e-74	1	2.20561e-74	177	980				
JPH4	84502	broad.mit.edu	37	14	24040262	24040262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24040262C>T	ENST00000397118.3	-	6	2580	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	RP11-66N24.3_ENST00000555968.1_RNA|JPH4_ENST00000356300.4_Missense_Mutation_p.A560T|JPH4_ENST00000544177.1_Missense_Mutation_p.A225T|AP1G2_ENST00000308724.5_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	560					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCCGTGCCTGCTGGGGCCCTC	0.677																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1678-1680)Gca>Aca		junctophilin 4							45.0	50.0	48.0					14																	24040262		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040262C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1678G>A	14.37:g.24040262C>T	ENSP00000380307:p.Ala560Thr					JPH4_ENST00000544177.1_Missense_Mutation_p.A225T|JPH4_ENST00000356300.4_Missense_Mutation_p.A560T	p.A560T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2580	-	all_cancers(95;0.000251)		560					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1678G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856914	0.71834	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.56611	0.45;0.45;0.91	5.08	4.13	0.48395	.	0.764876	0.10176	U	0.706458	T	0.31765	0.0807	N	0.08118	0	0.09310	N	1	B;B	0.25105	0.118;0.037	B;B	0.23574	0.047;0.013	T	0.05801	-1.0863	10	0.14252	T	0.57	.	12.0487	0.53495	0.0:0.8254:0.1746:0.0	.	225;560	F5H1L9;Q96JJ6	.;JPH4_HUMAN	T	560;560;560;561;225	ENSP00000348648:A560T;ENSP00000380307:A560T;ENSP00000439562:A225T	ENSP00000267407:A561T	A	-	1	0	JPH4	23110102	0.002000	0.14202	0.777000	0.31699	0.900000	0.52787	1.311000	0.33562	2.518000	0.84900	0.655000	0.94253	GCA		0.677	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		127	469	0	0	0	1	0	127	469				
PAFAH2	5051	broad.mit.edu	37	1	26308959	26308959	+	Missense_Mutation	SNP	G	G	A	rs148012714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26308959G>A	ENST00000374282.3	-	7	741	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	188					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTTACCCGCTGATGCACC	0.527																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(562-564)Cgg>Tgg		platelet-activating factor acetylhydrolase 2, 40kDa		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	74.0	79.0		562	0.8	1.0	1	dbSNP_134	79	0,8600		0,0,4300	no	missense	PAFAH2	NM_000437.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	188/393	26308959	1,13005	2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26308959G>A	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.562C>T	1.37:g.26308959G>A	ENSP00000363400:p.Arg188Trp					PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W	p.R188W	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	7	741	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	188					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.562C>T	CCDS270.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352977	0.61293	2.27E-4	0.0	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.69561	-0.41;-0.41	5.63	0.757	0.18427	.	0.000000	0.64402	D	0.000012	T	0.81054	0.4743	M	0.82056	2.57	0.42507	D	0.99295	D	0.89917	1.0	D	0.91635	0.999	D	0.84883	0.0832	10	0.66056	D	0.02	-22.0736	15.874	0.79148	0.0:0.0:0.7012:0.2988	.	188	Q99487	PAFA2_HUMAN	W	188	ENSP00000363400:R188W;ENSP00000363402:R188W	ENSP00000363400:R188W	R	-	1	2	PAFAH2	26181546	0.998000	0.40836	0.991000	0.47740	0.484000	0.33280	0.355000	0.20163	0.565000	0.29255	0.563000	0.77884	CGG		0.527	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		49	140	0	0	0	1	0	49	140				
FAM35A	54537	broad.mit.edu	37	10	88930603	88930603	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88930603T>C	ENST00000298784.1	+	6	1949	c.1835T>C	c.(1834-1836)gTa>gCa	p.V612A	FAM35A_ENST00000298786.4_Missense_Mutation_p.V612A	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	612										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCAGAGGCAGTATACAGTTAT	0.393																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(1834-1836)gTa>gCa		family with sequence similarity 35, member A							54.0	53.0	53.0					10																	88930603		2203	4298	6501	SO:0001583	missense	54537							g.chr10:88930603T>C	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1835T>C	10.37:g.88930603T>C	ENSP00000298784:p.Val612Ala					FAM35A_ENST00000298784.1_Missense_Mutation_p.V612A	p.V612A			Q86V20	FA35A_HUMAN			6	1949	+			612					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.1835T>C	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	t	6.964	0.547799	0.13312	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.63580	-0.05;-0.05;-0.05	4.05	1.68	0.24146	.	0.921660	0.09014	N	0.861050	T	0.49423	0.1556	L	0.34521	1.04	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.41770	-0.9490	10	0.48119	T	0.1	0.1994	6.7529	0.23497	0.0:0.2922:0.0:0.7078	.	612	Q86V20	FA35A_HUMAN	A	612	ENSP00000298786:V612A;ENSP00000298784:V612A;ENSP00000351064:V612A	ENSP00000298784:V612A	V	+	2	0	FAM35A	88920583	0.007000	0.16637	0.026000	0.17262	0.969000	0.65631	0.482000	0.22276	0.235000	0.21160	0.491000	0.48974	GTA		0.393	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		64	279	0	0	0	1	0	64	279				
SLCO5A1	81796	broad.mit.edu	37	8	70744328	70744328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744328C>T	ENST00000260126.4	-	2	1287	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCACAGGGGCCGCCGACCCCG	0.637																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(580-582)cGg>cAg		solute carrier organic anion transporter family, member 5A1							20.0	26.0	24.0					8																	70744328		2202	4298	6500	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744328C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.581G>A	8.37:g.70744328C>T	ENSP00000260126:p.Arg194Gln					SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000528658.1_5'UTR	p.R194Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1287	-	Breast(64;0.0654)		194					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.581G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545534	0.96488	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.53857	0.6;0.6;0.6	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100668	0.64402	D	0.000004	T	0.77824	0.4188	M	0.87682	2.9	0.53688	D	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	T	0.81132	-0.1072	10	0.66056	D	0.02	.	19.377	0.94514	0.0:1.0:0.0:0.0	.	194;194;194;194	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	Q	194	ENSP00000260126:R194Q;ENSP00000434422:R194Q;ENSP00000431611:R194Q	ENSP00000260126:R194Q	R	-	2	0	SLCO5A1	70906882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.586000	0.87340	0.561000	0.74099	CGG		0.637	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		6	271	0	0	0	1	0	6	271				
MEN1	4221	broad.mit.edu	37	11	64572567	64572567	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64572567G>A	ENST00000337652.1	-	9	1807	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L	MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L|MEN1_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	435					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGCAGCACAGGCGTGGGACT	0.622			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1303-1305)cCt>cTt		multiple endocrine neoplasia I							90.0	77.0	82.0					11																	64572567		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572567G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1304C>T	11.37:g.64572567G>A	ENSP00000337088:p.Pro435Leu					MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L	p.P435L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			9	1807	-			435					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1304C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101372	0.94245	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.97662	1.0161	10	0.87932	D	0	-17.8969	14.0916	0.64995	0.0:0.0:1.0:0.0	.	430;395;435	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	395;430;430;430;435;435;435;435;435	ENSP00000366538:P395L;ENSP00000366543:P430L;ENSP00000308975:P430L;ENSP00000323747:P430L;ENSP00000337088:P435L;ENSP00000377901:P435L;ENSP00000377899:P435L;ENSP00000396940:P435L;ENSP00000366530:P435L	ENSP00000308975:P430L	P	-	2	0	MEN1	64329143	1.000000	0.71417	0.898000	0.35279	0.974000	0.67602	8.435000	0.90297	2.257000	0.74773	0.456000	0.33151	CCT		0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			47	210	0	0	0	1	0	47	210				
SLC25A35	399512	broad.mit.edu	37	17	8197811	8197811	+	Silent	SNP	G	G	A	rs370418707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8197811G>A	ENST00000577745.1	-	1	825	c.315C>T	c.(313-315)agC>agT	p.S105S	SLC25A35_ENST00000396278.1_Silent_p.S105S|SLC25A35_ENST00000380067.2_Silent_p.S105S|SLC25A35_ENST00000579192.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	105					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						CAGCTGCTGCGCTGCGGGCAG	0.632																																						ENST00000380067.2																			0				breast(2)|large_intestine(2)|lung(2)	6						c.(313-315)agC>agT		solute carrier family 25, member 35		G		3,4371		0,3,2184	25.0	25.0	25.0		315	-3.5	0.9	17		25	0,8522		0,0,4261	no	coding-synonymous	SLC25A35	NM_201520.1		0,3,6445	AA,AG,GG		0.0,0.0686,0.0233		105/296	8197811	3,12893	2187	4261	6448	SO:0001819	synonymous_variant	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8197811G>A	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.315C>T	17.37:g.8197811G>A						SLC25A35_ENST00000579192.1_Silent_p.S105S|SLC25A35_ENST00000396278.1_Silent_p.S105S|SLC25A35_ENST00000577745.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S	p.S105S	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN			1	359	-			105					Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	ENST00000577745.1	37	c.315C>T																																																																																					0.632	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520		42	234	0	0	0	1	0	42	234				
C2orf47	79568	broad.mit.edu	37	2	200824039	200824039	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200824039T>C	ENST00000392290.1	+	2	695	c.499T>C	c.(499-501)Ttg>Ctg	p.L167L	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Silent_p.L167L			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	167						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						ATTTGATCTGTTGGAAGAACT	0.308																																						ENST00000295079.2																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(499-501)Ttg>Ctg		chromosome 2 open reading frame 47							155.0	157.0	156.0					2																	200824039		2203	4300	6503	SO:0001819	synonymous_variant	79568					mitochondrion		g.chr2:200824039T>C	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.499T>C	2.37:g.200824039T>C						C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Silent_p.L167L	p.L167L	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN			3	821	+			167					Q658V9|Q9H671	Silent	SNP	ENST00000392290.1	37	c.499T>C	CCDS2329.1																																																																																				0.308	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		14	492	0	0	0	1	0	14	492				
DNAH17	8632	broad.mit.edu	37	17	76430117	76430117	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76430117T>C	ENST00000585328.1	-	75	12327	c.12203A>G	c.(12202-12204)aAc>aGc	p.N4068S	DNAH17_ENST00000389840.5_Missense_Mutation_p.N4067S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4067					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACCTTGGGGTTGGCCTCCAG	0.612																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(12199-12201)aAc>aGc		dynein, axonemal, heavy chain 17							225.0	183.0	198.0					17																	76430117		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76430117T>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12203A>G	17.37:g.76430117T>C	ENSP00000465516:p.Asn4068Ser					DNAH17_ENST00000585328.1_Missense_Mutation_p.N4068S|DNAH17_ENST00000586052.1_5'UTR	p.N4067S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		75	12324	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.12200A>G		.	.	.	.	.	.	.	.	.	.	T	16.15	3.040736	0.55003	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08896	3.04	5.64	4.57	0.56435	.	0.184935	0.37669	N	0.002000	T	0.10465	0.0256	L	0.45137	1.4	0.39459	D	0.96753	B	0.31790	0.34	B	0.38056	0.264	T	0.14811	-1.0459	10	0.35671	T	0.21	.	11.5876	0.50927	0.0:0.0698:0.0:0.9301	.	4068	E7EUM8	.	S	4068;4067	ENSP00000374490:N4067S	ENSP00000300671:N4068S	N	-	2	0	DNAH17	73941712	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	7.891000	0.87319	0.990000	0.38787	0.454000	0.30748	AAC		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		120	588	0	0	0	1	0	120	588				
ZNF516	9658	broad.mit.edu	37	18	74090972	74090972	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74090972G>T	ENST00000443185.2	-	4	3415	c.3098C>A	c.(3097-3099)gCt>gAt	p.A1033D	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1033					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCGCCCCAGCCACGCCGGG	0.682																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3097-3099)gCt>gAt		zinc finger protein 516							29.0	34.0	33.0					18																	74090972		1906	4091	5997	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74090972G>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3098C>A	18.37:g.74090972G>T	ENSP00000394757:p.Ala1033Asp					ZNF516_ENST00000524431.2_5'UTR	p.A1033D	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3415	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	1033						Missense_Mutation	SNP	ENST00000443185.2	37	c.3098C>A		.	.	.	.	.	.	.	.	.	.	G	2.797	-0.250111	0.05867	.	.	ENSG00000101493	ENST00000443185	T	0.10573	2.86	2.24	1.29	0.21616	.	0.919558	0.09263	N	0.826312	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.39663	-0.9603	8	0.87932	D	0	.	5.3938	0.16259	0.128:0.2057:0.6663:0.0	.	.	.	.	D	1033	ENSP00000394757:A1033D	ENSP00000394757:A1033D	A	-	2	0	ZNF516	72219960	0.000000	0.05858	0.004000	0.12327	0.102000	0.19082	0.294000	0.19047	0.226000	0.20979	0.486000	0.48141	GCT		0.682	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		61	328	1	0	6.3091e-27	1	7.28755e-27	61	328				
NOC2L	26155	broad.mit.edu	37	1	892379	892379	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	127					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCTTCCTCCGCTCCATCCT	0.582																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(379-381)gcG>gcA		nucleolar complex associated 2 homolog (S. cerevisiae)							126.0	130.0	129.0					1																	892379		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:892379C>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.381G>A	1.37:g.892379C>T						NOC2L_ENST00000487214.1_5'UTR	p.A127A	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	430	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	127					Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.381G>A	CCDS3.1																																																																																				0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		161	569	0	0	0	1	0	161	569				
CDX4	1046	broad.mit.edu	37	X	72667226	72667226	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72667226C>T	ENST00000373514.2	+	1	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	46					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AATTTCGCTGCGGCACCGGCT	0.647																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(136-138)gCg>gTg		caudal type homeobox 4							41.0	37.0	38.0					X																	72667226		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667226C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.137C>T	X.37:g.72667226C>T	ENSP00000362613:p.Ala46Val						p.A46V	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	137	+	Renal(35;0.156)		46					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.137C>T	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	3.372	-0.128297	0.06753	.	.	ENSG00000131264	ENST00000373514	T	0.48522	0.81	2.57	1.69	0.24217	Caudal-like activation domain (1);	0.315565	0.30630	N	0.009220	T	0.37019	0.0988	L	0.41961	1.31	0.23162	N	0.9982	B	0.09022	0.002	B	0.09377	0.004	T	0.27971	-1.0058	10	0.48119	T	0.1	-4.2406	9.9804	0.41811	0.0:0.8693:0.0:0.1307	.	46	O14627	CDX4_HUMAN	V	46	ENSP00000362613:A46V	ENSP00000362613:A46V	A	+	2	0	CDX4	72583951	0.988000	0.35896	0.003000	0.11579	0.005000	0.04900	4.335000	0.59298	0.078000	0.16900	-1.701000	0.00721	GCG		0.647	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		16	160	0	0	0	1	0	16	160				
FAM83A	84985	broad.mit.edu	37	8	124219674	124219674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124219674G>A	ENST00000518448.1	+	5	3065	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGTGTGTCCGCGTCTTCAGG	0.731																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1051-1053)Gcg>Acg		family with sequence similarity 83, member A							8.0	10.0	10.0					8																	124219674		2128	4194	6322	SO:0001583	missense	84985							g.chr8:124219674G>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1051G>A	8.37:g.124219674G>A	ENSP00000428876:p.Ala351Thr					FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000276699.6_Intron	p.A351T			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3065	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		351			Ser-rich.		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.1051G>A	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497489	0.04291	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.07908	3.15;3.15	4.16	-5.41	0.02648	.	2.848170	0.01218	N	0.008039	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37596	-0.9699	10	0.12430	T	0.62	0.1336	10.3161	0.43738	0.7465:0.0:0.1438:0.1097	.	351	Q86UY5	FA83A_HUMAN	T	351	ENSP00000428876:A351T;ENSP00000323034:A351T	ENSP00000323034:A351T	A	+	1	0	FAM83A	124288855	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.596000	0.05720	-1.745000	0.01337	-0.436000	0.05848	GCG		0.731	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		32	137	0	0	0	1	0	32	137				
MLKL	197259	broad.mit.edu	37	16	74709292	74709292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74709292C>T	ENST00000308807.7	-	9	1664	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	MLKL_ENST00000306247.7_Silent_p.S182S	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCCAGAGGACGATTCCAAAG	0.483																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(1201-1203)Gtc>Atc		mixed lineage kinase domain-like							104.0	100.0	101.0					16																	74709292		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74709292C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1201G>A	16.37:g.74709292C>T	ENSP00000308351:p.Val401Ile					MLKL_ENST00000306247.7_Silent_p.S182S	p.V401I	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			9	1664	-			401			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.1201G>A	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802705	0.50315	.	.	ENSG00000168404	ENST00000308807	D	0.93659	-3.26	4.96	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061471	0.64402	N	0.000005	D	0.88040	0.6330	.	.	.	0.33832	D	0.630322	P	0.45348	0.856	B	0.40165	0.321	D	0.88334	0.2970	9	0.23891	T	0.37	-20.2887	9.8095	0.40815	0.0:0.9015:0.0:0.0985	.	401	Q8NB16	MLKL_HUMAN	I	401	ENSP00000308351:V401I	ENSP00000308351:V401I	V	-	1	0	MLKL	73266793	0.995000	0.38212	0.999000	0.59377	0.946000	0.59487	1.105000	0.31086	1.398000	0.46701	0.498000	0.49722	GTC		0.483	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		113	348	0	0	0	1	0	113	348				
ATP9B	374868	broad.mit.edu	37	18	77133958	77133958	+	Missense_Mutation	SNP	C	C	T	rs140981029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77133958C>T	ENST00000426216.2	+	28	3148	c.3131C>T	c.(3130-3132)gCc>gTc	p.A1044V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V|ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1044					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CACGTGGTGGCCATCTCCTTC	0.597																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(3130-3132)gCc>gTc		ATPase, class II, type 9B		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	155.0	118.0	130.0		3131	4.3	1.0	18	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ATP9B	NM_198531.3	64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	1044/1148	77133958	3,13003	2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77133958C>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.3131C>T	18.37:g.77133958C>T	ENSP00000398076:p.Ala1044Val					ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V|ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V	p.A1044V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	28	3148	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	1044					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.3131C>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044220	0.93685	2.27E-4	2.33E-4	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	D;D;D	0.88975	-2.45;-2.45;-2.45	5.19	4.29	0.51040	.	0.110918	0.64402	D	0.000011	D	0.94647	0.8274	M	0.90595	3.13	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.66497	0.928;0.944	D	0.95051	0.8187	10	0.72032	D	0.01	.	12.8963	0.58101	0.0:0.9185:0.0:0.0815	.	1044;1044	O43861;O43861-2	ATP9B_HUMAN;.	V	1044;1044;365	ENSP00000398076:A1044V;ENSP00000304500:A1044V;ENSP00000442015:A365V	ENSP00000304500:A1044V	A	+	2	0	ATP9B	75234946	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.732000	0.68563	1.116000	0.41820	0.655000	0.94253	GCC		0.597	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		77	368	0	0	0	1	0	77	368				
ASMT	438	broad.mit.edu	37	X	1746651	1746651	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1746651A>C	ENST00000381229.4	+	4	466	c.430A>C	c.(430-432)Acg>Ccg	p.T144P	ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381241.3_Missense_Mutation_p.T144P|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	144					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	AGAGCTTTTTACGGCCATCTA	0.393																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(430-432)Acg>Ccg		acetylserotonin O-methyltransferase							269.0	254.0	259.0					X																	1746651		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1746651A>C	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.430A>C	X.37:g.1746651A>C	ENSP00000370627:p.Thr144Pro					ASMT_ENST00000381229.4_Missense_Mutation_p.T144P|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P|RP13-297E16.3_ENST00000509780.1_RNA	p.T144P	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			4	629	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	144					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.430A>C		.	.	.	.	.	.	.	.	.	.	N	5.564	0.288915	0.10513	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.18016	2.24;2.24;2.24	1.48	-0.465	0.12157	.	1.013810	0.07922	U	0.976093	T	0.16811	0.0404	L	0.54323	1.7	0.09310	N	0.999999	P;P	0.40250	0.49;0.709	B;B	0.41236	0.124;0.351	T	0.29119	-1.0022	10	0.46703	T	0.11	.	4.4792	0.11759	0.489:0.0:0.511:0.0	.	144;144	P46597-2;P46597-3	.;.	P	144	ENSP00000370639:T144P;ENSP00000370627:T144P;ENSP00000370631:T144P	ENSP00000370627:T144P	T	+	1	0	ASMT	1706651	0.011000	0.17503	0.006000	0.13384	0.106000	0.19336	0.774000	0.26675	0.399000	0.25367	0.206000	0.17768	ACG		0.393	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		204	608	0	0	0	1	0	204	608				
ZNF764	92595	broad.mit.edu	37	16	30567266	30567266	+	Missense_Mutation	SNP	C	C	T	rs142253089		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567266C>T	ENST00000252797.2	-	3	556	c.476G>A	c.(475-477)cGc>cAc	p.R159H	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.R158H	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GAGGGAGGGGCGTCCCCGGTG	0.701																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(472-474)cGc>cAc		zinc finger protein 764		C	HIS/ARG,HIS/ARG	0,4394		0,0,2197	17.0	20.0	19.0		473,476	2.9	0.1	16	dbSNP_134	19	1,8597		0,1,4298	no	missense,missense	ZNF764	NM_001172679.1,NM_033410.3	29,29	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	158/408,159/409	30567266	1,12991	2197	4299	6496	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567266C>T	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.476G>A	16.37:g.30567266C>T	ENSP00000252797:p.Arg159His					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R159H	p.R158H			Q96H86	ZN764_HUMAN			3	788	-			159					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.473G>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816078	0.32145	0.0	1.16E-4	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.06528	3.29;3.29	4.94	2.93	0.34026	.	0.190029	0.26156	N	0.026001	T	0.04998	0.0134	L	0.34521	1.04	0.09310	N	1	B;B	0.15719	0.008;0.014	B;B	0.09377	0.004;0.002	T	0.32666	-0.9898	10	0.36615	T	0.2	-19.5601	7.0727	0.25187	0.0:0.7855:0.0:0.2145	.	158;159	B3KSN2;Q96H86	.;ZN764_HUMAN	H	159;158	ENSP00000252797:R159H;ENSP00000378526:R158H	ENSP00000252797:R159H	R	-	2	0	ZNF764	30474767	.	.	0.147000	0.22382	0.026000	0.11368	.	.	1.270000	0.44297	0.563000	0.77884	CGC		0.701	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		7	170	0	0	0	1	0	7	170				
NLRP12	91662	broad.mit.edu	37	19	54313231	54313231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313231C>T	ENST00000324134.6	-	3	1850	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	561					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAACAGGAAGCGGCTGGTGAG	0.612																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1681-1683)cGc>cAc		NLR family, pyrin domain containing 12							85.0	80.0	82.0					19																	54313231		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313231C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1682G>A	19.37:g.54313231C>T	ENSP00000319377:p.Arg561His					NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H	p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1850	-	Ovarian(34;0.19)		561					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1682G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	8.046	0.765011	0.15914	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.05	1.75	0.24633	.	0.421101	0.17587	N	0.168891	D	0.83727	0.5317	M	0.70903	2.155	0.80722	D	1	B;B;B;B	0.25904	0.066;0.066;0.066;0.137	B;B;B;B	0.20184	0.008;0.008;0.008;0.028	T	0.71137	-0.4680	10	0.10636	T	0.68	.	7.3897	0.26903	0.0:0.7809:0.0:0.2191	.	561;561;561;561	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	561	ENSP00000319377:R561H;ENSP00000438030:R561H;ENSP00000340473:R561H;ENSP00000346231:R561H;ENSP00000375655:R561H;ENSP00000375653:R561H;ENSP00000375652:R561H	ENSP00000319377:R561H	R	-	2	0	NLRP12	59005043	0.031000	0.19500	0.454000	0.27019	0.181000	0.23173	0.717000	0.25851	0.270000	0.21984	0.485000	0.47835	CGC		0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		96	520	0	0	0	1	0	96	520				
GLS	2744	broad.mit.edu	37	2	191797507	191797507	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191797507G>A	ENST00000320717.3	+	14	1908				GLS_ENST00000409428.1_Intron|GLS_ENST00000409215.1_Nonsense_Mutation_p.W77*|GLS_ENST00000409626.1_Nonsense_Mutation_p.W143*|GLS_ENST00000471443.1_3'UTR|GLS_ENST00000338435.4_Nonsense_Mutation_p.W572*	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	AGACAGTATGGAAAAAAGTGT	0.363																																						ENST00000338435.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(1714-1716)tgG>tgA		glutaminase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						41.0	41.0	41.0					2																	191797507		876	1991	2867	SO:0001627	intron_variant	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191797507G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1650+1144G>A	2.37:g.191797507G>A						GLS_ENST00000409626.1_Nonsense_Mutation_p.W143*|GLS_ENST00000320717.3_Intron|GLS_ENST00000409428.1_Intron|GLS_ENST00000471443.1_3'UTR|GLS_ENST00000409215.1_Nonsense_Mutation_p.W77*	p.W572*	NM_001256310.1	NP_001243239.1	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		15	1967	+			0					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Nonsense_Mutation	SNP	ENST00000320717.3	37	c.1716G>A	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	39	7.516827	0.98332	.	.	ENSG00000115419	ENST00000338435;ENST00000409626;ENST00000409215	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.5377	0.95260	0.0:0.0:1.0:0.0	.	.	.	.	X	572;143;77	.	ENSP00000340689:W572X	W	+	3	0	GLS	191505752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.601000	0.87937	0.655000	0.94253	TGG		0.363	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			31	92	0	0	0	1	0	31	92				
NPIPB15	440348	broad.mit.edu	37	16	74425384	74425384	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74425384G>A	ENST00000429990.1	+	7	834	c.738G>A	c.(736-738)caG>caA	p.Q246Q				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	246						extracellular region (GO:0005576)											TGGGCCGCCAGCCACCTCCTC	0.532																																						ENST00000429990.1																			0											c.(736-738)caG>caA		nuclear pore complex interacting protein family, member B15							44.0	45.0	45.0					16																	74425384		1962	4151	6113	SO:0001819	synonymous_variant	440348							g.chr16:74425384G>A	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.738G>A	16.37:g.74425384G>A							p.Q246Q							7	834	+								C9J9U8	Silent	SNP	ENST00000429990.1	37	c.738G>A																																																																																					0.532	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		96	486	0	0	0	1	0	96	486				
SBNO1	55206	broad.mit.edu	37	12	123794273	123794273	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123794273A>G	ENST00000602398.1	-	26	3553	c.3426T>C	c.(3424-3426)taT>taC	p.Y1142Y	SBNO1_ENST00000420886.2_Silent_p.Y1142Y|SBNO1_ENST00000602750.1_Silent_p.Y1141Y|SBNO1_ENST00000267176.4_Silent_p.Y1141Y			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1142					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCCCATATCATATCTTCCAT	0.398																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3424-3426)taT>taC		strawberry notch homolog 1 (Drosophila)							134.0	130.0	131.0					12																	123794273		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794273A>G	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3426T>C	12.37:g.123794273A>G						SBNO1_ENST00000602398.1_Silent_p.Y1142Y|SBNO1_ENST00000602750.1_Silent_p.Y1141Y|SBNO1_ENST00000267176.4_Silent_p.Y1141Y	p.Y1142Y	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3425	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1142					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.3426T>C	CCDS53844.1																																																																																				0.398	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		54	446	0	0	0	1	0	54	446				
LNP1	348801	broad.mit.edu	37	3	100170652	100170652	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100170652A>G	ENST00000383693.3	+	3	1526	c.246A>G	c.(244-246)gtA>gtG	p.V82V	LNP1_ENST00000489752.1_Silent_p.V95V	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	82										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTAGCCACGTACGGGATTACA	0.443																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(244-246)gtA>gtG		leukemia NUP98 fusion partner 1							101.0	92.0	95.0					3																	100170652		1876	4094	5970	SO:0001819	synonymous_variant	348801							g.chr3:100170652A>G		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.246A>G	3.37:g.100170652A>G						LNP1_ENST00000489752.1_Silent_p.V95V	p.V82V	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			3	1526	+			82					B7ZLT3	Silent	SNP	ENST00000383693.3	37	c.246A>G	CCDS43120.1																																																																																				0.443	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			71	305	0	0	0	1	0	71	305				
IRAK4	51135	broad.mit.edu	37	12	44166052	44166052	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44166052C>A	ENST00000448290.2	+	4	448	c.377C>A	c.(376-378)cCt>cAt	p.P126H	IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H|IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H|IRAK4_ENST00000431837.1_Missense_Mutation_p.P2H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	126					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAACAGATGCCTTTCTGTGAC	0.373																																						ENST00000431837.1																			0											c.(4-6)cCt>cAt		interleukin-1 receptor-associated kinase 4							110.0	99.0	103.0					12																	44166052		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44166052C>A	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.377C>A	12.37:g.44166052C>A	ENSP00000390651:p.Pro126His					IRAK4_ENST00000448290.2_Missense_Mutation_p.P126H|IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H|IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H	p.P2H	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	3	313	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	126					Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.5C>A	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591258	0.46214	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77620	-1.07;-1.07;-1.11;-1.11	5.32	4.29	0.51040	.	0.571871	0.19382	N	0.115633	T	0.76140	0.3946	L	0.60455	1.87	0.09310	N	1	P	0.35821	0.523	B	0.42882	0.401	T	0.67730	-0.5595	10	0.46703	T	0.11	-1.4818	8.1865	0.31341	0.0:0.8597:0.0:0.1403	.	126	Q9NWZ3	IRAK4_HUMAN	H	2;2;126;126;126	ENSP00000408734:P2H;ENSP00000390327:P2H;ENSP00000390651:P126H;ENSP00000446490:P126H	ENSP00000349096:P126H	P	+	2	0	IRAK4	42452319	0.010000	0.17322	0.002000	0.10522	0.009000	0.06853	1.834000	0.39171	1.128000	0.42052	0.655000	0.94253	CCT		0.373	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			58	283	1	0	6.60958e-23	1	7.49606e-23	58	283				
SULF1	23213	broad.mit.edu	37	8	70517147	70517147	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70517147G>A	ENST00000260128.4	+	13	2074	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	453					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTACCAGACAGCCTGTGAACA	0.448																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1357-1359)Gcc>Acc		sulfatase 1							93.0	92.0	92.0					8																	70517147		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70517147G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1357G>A	8.37:g.70517147G>A	ENSP00000260128:p.Ala453Thr					SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T|SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000521946.1_3'UTR	p.A453T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		13	2074	+	Breast(64;0.0654)		453					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1357G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016150	0.75161	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	6.04	6.04	0.98038	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.046975	0.85682	D	0.000000	D	0.97297	0.9116	L	0.35723	1.085	0.52099	D	0.999942	P	0.45078	0.85	B	0.42738	0.396	D	0.97297	0.9928	10	0.54805	T	0.06	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	453	Q8IWU6	SULF1_HUMAN	T	453	ENSP00000403040:A453T;ENSP00000260128:A453T;ENSP00000385704:A453T;ENSP00000390315:A453T	ENSP00000260128:A453T	A	+	1	0	SULF1	70679701	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.174000	0.71943	2.873000	0.98535	0.561000	0.74099	GCC		0.448	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		71	385	0	0	0	1	0	71	385				
FRYL	285527	broad.mit.edu	37	4	48607807	48607807	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48607807T>G	ENST00000503238.1	-	8	784	c.785A>C	c.(784-786)aAa>aCa	p.K262T	FRYL_ENST00000358350.4_Missense_Mutation_p.K262T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.K262T|FRYL_ENST00000507711.1_Missense_Mutation_p.K262T			O94915	FRYL_HUMAN	FRY-like	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAGTGCATGTTTTATATCTTT	0.308																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(784-786)aAa>aCa		FRY-like							112.0	115.0	114.0					4																	48607807		1825	4090	5915	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48607807T>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.785A>C	4.37:g.48607807T>G	ENSP00000426064:p.Lys262Thr					FRYL_ENST00000507711.1_Missense_Mutation_p.K262T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.K262T|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.K262T	p.K262T	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			11	1389	-			262					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.785A>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839186	0.91117	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.2	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.82660	0.5085	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.87578	0.982;0.998	D	0.85140	0.0980	10	0.72032	D	0.01	.	15.8777	0.79178	0.0:0.0:0.0:1.0	.	262;262	F2Z2S2;O94915	.;FRYL_HUMAN	T	262	ENSP00000426064:K262T;ENSP00000351113:K262T;ENSP00000441114:K262T;ENSP00000421584:K262T	ENSP00000351113:K262T	K	-	2	0	FRYL	48302564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.151000	0.67156	0.482000	0.46254	AAA		0.308	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			15	380	0	0	0	1	0	15	380				
TRGC1	6966	broad.mit.edu	37	7	38299581	38299581	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38299581G>A	ENST00000443402.2	-	0	628					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											ACACACATGAGAACTGAAATG	0.448																																						ENST00000443402.2																			0																																																			0							g.chr7:38299581G>A	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38299581G>A								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	628	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.448	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		10	39	0	0	0	1	0	10	39				
CARD10	29775	broad.mit.edu	37	22	37892461	37892461	+	Missense_Mutation	SNP	G	G	A	rs142113268		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37892461G>A	ENST00000403299.1	-	14	2270	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_ENST00000251973.5_Missense_Mutation_p.S685L|CARD10_ENST00000406271.3_Missense_Mutation_p.S399L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	685					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTACCCTTCGAGTCCATCAG	0.637																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2053-2055)tCg>tTg		caspase recruitment domain family, member 10		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	65.0	57.0	60.0		2054	-1.8	0.0	22	dbSNP_134	60	0,8600		0,0,4300	no	missense	CARD10	NM_014550.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	685/1033	37892461	1,13005	2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37892461G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2054C>T	22.37:g.37892461G>A	ENSP00000384570:p.Ser685Leu					CARD10_ENST00000251973.5_Missense_Mutation_p.S685L|CARD10_ENST00000406271.3_Missense_Mutation_p.S399L	p.S685L			Q9BWT7	CAR10_HUMAN			14	2270	-	Melanoma(58;0.0574)		685					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2054C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208596	0.09757	2.27E-4	0.0	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.39229	1.09;2.78;1.09;1.57	4.94	-1.77	0.07982	.	1.591350	0.03379	N	0.200117	T	0.22166	0.0534	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.0;0.002	T	0.07654	-1.0761	10	0.13470	T	0.59	-1.7014	2.3847	0.04363	0.1914:0.2315:0.4599:0.1172	.	685;399	Q9BWT7;Q8NC81	CAR10_HUMAN;.	L	685;399;685;326;157	ENSP00000384570:S685L;ENSP00000385799:S399L;ENSP00000251973:S685L;ENSP00000416239:S326L	ENSP00000251973:S685L	S	-	2	0	CARD10	36222407	0.000000	0.05858	0.038000	0.18304	0.719000	0.41307	-0.083000	0.11286	-0.149000	0.11215	0.561000	0.74099	TCG		0.637	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		52	213	0	0	0	1	0	52	213				
FRY	10129	broad.mit.edu	37	13	32852676	32852676	+	Silent	SNP	C	C	T	rs554801796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32852676C>T	ENST00000380250.3	+	58	8956	c.8460C>T	c.(8458-8460)tcC>tcT	p.S2820S	FRY_ENST00000542859.1_Silent_p.S190S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2820						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGGGGACTCCGAAGAAAAGG	0.428													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15858	0.0		0.0	False		,,,				2504	0.0					ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8458-8460)tcC>tcT		furry homolog (Drosophila)							129.0	128.0	128.0					13																	32852676		1839	4095	5934	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32852676C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8460C>T	13.37:g.32852676C>T						FRY_ENST00000542859.1_Silent_p.S190S	p.S2820S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	58	8956	+		Lung SC(185;0.0271)	2820					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.8460C>T	CCDS41875.1																																																																																				0.428	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		55	448	0	0	0	1	0	55	448				
SYMPK	8189	broad.mit.edu	37	19	46332306	46332306	+	Missense_Mutation	SNP	G	G	A	rs146919889	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46332306G>A	ENST00000245934.7	-	14	2151	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	636					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGGAGCCCGAGGCACCTGC	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17774	0.0		0.0	False		,,,				2504	0.0					ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1906-1908)tCg>tTg		symplekin							70.0	69.0	69.0					19																	46332306		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46332306G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1907C>T	19.37:g.46332306G>A	ENSP00000245934:p.Ser636Leu						p.S636L	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	14	2151	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	636					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1907C>T	CCDS12676.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.176	1.022306	0.19433	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.94	3.89	0.44902	Armadillo-type fold (1);	0.507425	0.20457	N	0.091966	T	0.28001	0.0690	M	0.65498	2.005	0.20638	N	0.999872	B;B	0.32862	0.138;0.387	B;B	0.19391	0.009;0.025	T	0.12451	-1.0547	9	0.27785	T	0.31	.	10.702	0.45933	0.0:0.0:0.8091:0.1909	.	651;636	Q4LE61;Q92797	.;SYMPK_HUMAN	L	636	.	ENSP00000245934:S636L	S	-	2	0	SYMPK	51024146	0.291000	0.24352	0.062000	0.19696	0.120000	0.20174	3.211000	0.51137	1.081000	0.41110	0.456000	0.33151	TCG		0.642	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		52	506	0	0	0	1	0	52	506				
IGSF1	3547	broad.mit.edu	37	X	130415855	130415855	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130415855A>G	ENST00000361420.3	-	8	1389	c.1310T>C	c.(1309-1311)aTc>aCc	p.I437T	IGSF1_ENST00000370904.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	437	Ig-like C2-type 5.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAAGGGTGATGGCCTTTCC	0.473																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1282-1284)aTc>aCc		immunoglobulin superfamily, member 1							89.0	74.0	79.0					X																	130415855		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130415855A>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1310T>C	X.37:g.130415855A>G	ENSP00000355010:p.Ile437Thr					IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T|IGSF1_ENST00000361420.3_Missense_Mutation_p.I437T	p.I428T			Q8N6C5	IGSF1_HUMAN			14	2193	-			437			Ig-like C2-type 5.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1283T>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318945	0.41096	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00776	5.71;5.71;5.71;5.71	4.21	3.04	0.35103	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.531595	0.17345	N	0.177610	T	0.01695	0.0054	L	0.28556	0.865	0.23144	N	0.998223	D;D	0.60160	0.981;0.987	D;D	0.72982	0.92;0.979	T	0.51756	-0.8665	10	0.87932	D	0	.	5.4452	0.16531	0.8738:0.0:0.1262:0.0	.	428;437	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	T	428;437;428;437	ENSP00000359947:I428T;ENSP00000355010:I437T;ENSP00000359941:I428T;ENSP00000359940:I437T	ENSP00000355010:I437T	I	-	2	0	IGSF1	130243536	0.999000	0.42202	0.605000	0.28930	0.663000	0.39108	2.733000	0.47360	0.761000	0.33130	0.481000	0.45027	ATC		0.473	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			61	218	0	0	0	1	0	61	218				
UBXN10	127733	broad.mit.edu	37	1	20517570	20517570	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20517570G>T	ENST00000375099.3	+	2	600	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	172										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCGTGGAGAGGAAATTCATCG	0.522																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(514-516)agG>agT		UBX domain protein 10							73.0	76.0	75.0					1																	20517570		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517570G>T	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.516G>T	1.37:g.20517570G>T	ENSP00000364240:p.Arg172Ser						p.R172S	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	600	+			172					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.516G>T	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	4.906	0.168388	0.09339	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.66	2.67	0.31697	.	0.973186	0.08458	N	0.942867	T	0.40119	0.1104	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27365	-1.0076	9	0.18276	T	0.48	-4.3621	10.3827	0.44121	0.0872:0.1469:0.766:0.0	.	172	Q96LJ8	UBX10_HUMAN	S	172	.	ENSP00000364240:R172S	R	+	3	2	UBXN10	20390157	0.867000	0.29959	0.099000	0.21106	0.066000	0.16364	2.421000	0.44688	1.168000	0.42723	0.591000	0.81541	AGG		0.522	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		31	288	1	0	3.80469e-20	1	4.25708e-20	31	288				
IL2RB	3560	broad.mit.edu	37	22	37524621	37524621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37524621C>T	ENST00000216223.5	-	10	1369	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	391			D -> E (in dbSNP:rs228942). {ECO:0000269|Ref.3}.		cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCATCAGGGTCTTCCTCTGAG	0.607																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1171-1173)Gac>Aac		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						59.0	60.0	59.0					22																	37524621		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524621C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1171G>A	22.37:g.37524621C>T	ENSP00000216223:p.Asp391Asn						p.D391N	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1369	-			391		D -> E (in dbSNP:rs228942).			B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1171G>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023888	0.54683	.	.	ENSG00000100385	ENST00000216223	T	0.08546	3.08	4.28	4.28	0.50868	.	1.830200	0.02534	N	0.093949	T	0.08358	0.0208	N	0.14661	0.345	0.23095	N	0.998308	B	0.24721	0.11	B	0.24848	0.056	T	0.29549	-1.0008	10	0.25751	T	0.34	-6.2193	14.3549	0.66730	0.0:1.0:0.0:0.0	.	391	P14784	IL2RB_HUMAN	N	391	ENSP00000216223:D391N	ENSP00000216223:D391N	D	-	1	0	IL2RB	35854567	0.819000	0.29175	0.385000	0.26158	0.003000	0.03518	1.468000	0.35332	2.349000	0.79799	0.655000	0.94253	GAC		0.607	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			82	283	0	0	0	1	0	82	283				
SEC61A1	29927	broad.mit.edu	37	3	127775659	127775659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127775659G>A	ENST00000243253.3	+	5	512	c.328G>A	c.(328-330)Gct>Act	p.A110T	SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	110					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AAAAGACCGAGCTCTCTTCAA	0.408																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(328-330)Gct>Act		Sec61 alpha 1 subunit (S. cerevisiae)							67.0	68.0	68.0					3																	127775659		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127775659G>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.328G>A	3.37:g.127775659G>A	ENSP00000243253:p.Ala110Thr					SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T|SEC61A1_ENST00000424880.2_Intron	p.A110T	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			5	512	+			110					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.328G>A	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893797	0.72639	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000481210	.	.	.	5.79	5.79	0.91817	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.82517	2.595	0.80722	D	1	B	0.18166	0.026	B	0.34991	0.193	T	0.74518	-0.3639	9	0.36615	T	0.2	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	110	P61619	S61A1_HUMAN	T	116;110;57	.	ENSP00000243253:A110T	A	+	1	0	SEC61A1	129258349	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.869000	0.99810	2.731000	0.93534	0.650000	0.86243	GCT		0.408	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		27	312	0	0	0	1	0	27	312				
KCNA5	3741	broad.mit.edu	37	12	5153586	5153586	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5153586G>A	ENST00000252321.3	+	1	502	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	91					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTCGACGGCCGCCTCCCGAGG	0.731																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(271-273)ccG>ccA		potassium voltage-gated channel, shaker-related subfamily, member 5							10.0	11.0	11.0					12																	5153586		2172	4240	6412	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153586G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.273G>A	12.37:g.5153586G>A							p.P91P	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	502	+			91					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.273G>A	CCDS8536.1																																																																																				0.731	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		11	89	0	0	0	1	0	11	89				
NPY2R	4887	broad.mit.edu	37	4	156135449	156135449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156135449C>T	ENST00000329476.3	+	2	847	c.358C>T	c.(358-360)Cct>Tct	p.P120S	NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	120					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GAAAATGGGTCCTGTCCTGTG	0.517																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(358-360)Cct>Tct		neuropeptide Y receptor Y2							68.0	68.0	68.0					4																	156135449		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135449C>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.358C>T	4.37:g.156135449C>T	ENSP00000332591:p.Pro120Ser					NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	p.P120S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	847	+	all_hematologic(180;0.24)	Renal(120;0.0854)	120					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.358C>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	0.168	-1.074551	0.01903	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70986	-0.53;-0.53	5.44	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.640222	0.17149	N	0.185139	T	0.29749	0.0743	N	0.00637	-1.305	0.31948	N	0.610021	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	10	0.08179	T	0.78	.	3.4285	0.07420	0.1399:0.5778:0.1353:0.1471	.	120	P49146	NPY2R_HUMAN	S	120	ENSP00000332591:P120S;ENSP00000426366:P120S	ENSP00000332591:P120S	P	+	1	0	NPY2R	156354899	0.018000	0.18449	0.795000	0.32087	0.502000	0.33828	1.493000	0.35605	0.337000	0.23665	-0.163000	0.13421	CCT		0.517	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		39	236	0	0	0	1	0	39	236				
GBP2	2634	broad.mit.edu	37	1	89575855	89575855	+	Missense_Mutation	SNP	G	G	A	rs201969713		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89575855G>A	ENST00000370466.3	-	9	1725	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	486					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ACCTTCAATCGCTTTTTCCTT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19238	0.001		0.0	False		,,,				2504	0.0					ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1456-1458)gCg>gTg		guanylate binding protein 2, interferon-inducible							197.0	177.0	184.0					1																	89575855		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89575855G>A	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1457C>T	1.37:g.89575855G>A	ENSP00000359497:p.Ala486Val						p.A486V	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	9	1725	-		Lung NSC(277;0.0908)	486					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.1457C>T	CCDS719.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.77	2.932109	0.52866	.	.	ENSG00000162645	ENST00000370466	T	0.02216	4.39	3.85	2.72	0.32119	Guanylate-binding protein, C-terminal (3);	4.217600	0.02050	U	0.049988	T	0.01627	0.0052	M	0.65677	2.01	0.22858	N	0.998644	B	0.27351	0.176	B	0.29942	0.109	T	0.46884	-0.9159	10	0.54805	T	0.06	-6.9689	8.6466	0.34009	0.0:0.0:0.2062:0.7938	.	486	P32456	GBP2_HUMAN	V	486	ENSP00000359497:A486V	ENSP00000359497:A486V	A	-	2	0	GBP2	89348443	0.002000	0.14202	0.423000	0.26634	0.601000	0.36947	0.741000	0.26202	0.634000	0.30469	-0.271000	0.10264	GCG		0.413	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		50	431	0	0	0	1	0	50	431				
GPRC5B	51704	broad.mit.edu	37	16	19883239	19883239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883239G>A	ENST00000300571.2	-	2	1120	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M|GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	310					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCTGCGACGTGTCGAAGTA	0.617																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(928-930)aCg>aTg		G protein-coupled receptor, family C, group 5, member B							82.0	75.0	78.0					16																	19883239		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883239G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.929C>T	16.37:g.19883239G>A	ENSP00000300571:p.Thr310Met					GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M	p.T310M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1120	-			310					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.929C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327035	0.81690	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.29917	1.57;1.56;1.55	5.18	5.18	0.71444	.	0.056857	0.64402	D	0.000001	T	0.50667	0.1629	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.83275	0.877;0.996	T	0.35773	-0.9775	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	336;310	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	310;310;159;336	ENSP00000300571:T310M;ENSP00000442858:T310M;ENSP00000441775:T336M	.	T	-	2	0	GPRC5B	19790740	1.000000	0.71417	0.956000	0.39512	0.981000	0.71138	7.371000	0.79600	2.688000	0.91661	0.655000	0.94253	ACG		0.617	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			96	366	0	0	0	1	0	96	366				
CLCNKA	1187	broad.mit.edu	37	1	16351370	16351370	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16351370C>A	ENST00000331433.4	+	4	361	c.342C>A	c.(340-342)atC>atA	p.I114I	CLCNKA_ENST00000420078.1_Silent_p.I114I|CLCNKA_ENST00000375692.1_Silent_p.I114I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Intron			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	114					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCAGAGCATCACGCCCTCCT	0.602																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(340-342)atC>atA		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						125.0	95.0	105.0					1																	16351370		2203	4300	6503	SO:0001819	synonymous_variant	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16351370C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.342C>A	1.37:g.16351370C>A						CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.I114I|CLCNKA_ENST00000331433.4_Silent_p.I114I|CLCNKA_ENST00000439316.2_Intron	p.I114I			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	5	470	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	114					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.342C>A	CCDS167.1																																																																																				0.602	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			19	281	1	0	1.2644e-06	1	1.30616e-06	19	281				
ARMCX5	64860	broad.mit.edu	37	X	101857782	101857782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857782G>A	ENST00000604957.1	+	1	3335	c.713G>A	c.(712-714)gGg>gAg	p.G238E	ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	238										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTGAAGGAGGGGAGCAATCC	0.473																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(712-714)gGg>gAg		armadillo repeat containing, X-linked 5							115.0	104.0	108.0					X																	101857782		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857782G>A		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.713G>A	X.37:g.101857782G>A	ENSP00000474720:p.Gly238Glu					ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.1_RNA	p.G238E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3335	+			238					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.713G>A	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255523	0.01457	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	3.7	-0.383	0.12477	.	0.740477	0.11663	N	0.541642	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38394	-0.9663	10	0.02654	T	1	-0.414	0.6024	0.00747	0.2441:0.1952:0.3703:0.1904	.	238	Q6P1M9	ARMX5_HUMAN	E	238	ENSP00000246174:G238E;ENSP00000439001:G238E;ENSP00000446385:G238E;ENSP00000445851:G238E;ENSP00000361827:G238E	ENSP00000246174:G238E	G	+	2	0	ARMCX5	101744438	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.077000	0.11394	-0.210000	0.10140	-0.912000	0.02778	GGG		0.473	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		70	306	0	0	0	1	0	70	306				
THBD	7056	broad.mit.edu	37	20	23028930	23028930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028930G>T	ENST00000377103.2	-	1	1448	c.1212C>A	c.(1210-1212)tgC>tgA	p.C404*		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	404	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	AAAACATCTGGCACCTGTGCG	0.617																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(1210-1212)tgC>tgA		thrombomodulin	Drotrecogin alfa(DB00055)						57.0	55.0	55.0					20																	23028930		2203	4300	6503	SO:0001587	stop_gained	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23028930G>T		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1212C>A	20.37:g.23028930G>T	ENSP00000366307:p.Cys404*						p.C404*	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1448	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		404			EGF-like 4.|EGF-like 5.		Q8IV29|Q9UC32	Nonsense_Mutation	SNP	ENST00000377103.2	37	c.1212C>A	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097120	0.97281	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	.	.	.	4.82	0.672	0.17935	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5519	10.665	0.45726	0.3007:0.0:0.6993:0.0	.	.	.	.	X	404;386	.	ENSP00000366307:C404X	C	-	3	2	THBD	22976930	0.014000	0.17966	0.743000	0.31040	0.578000	0.36192	0.062000	0.14389	-0.093000	0.12396	-1.134000	0.01955	TGC		0.617	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			81	403	1	0	4.00405e-42	1	4.87196e-42	81	403				
NAV1	89796	broad.mit.edu	37	1	201752962	201752962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201752962G>T	ENST00000367296.4	+	7	3206	c.2786G>T	c.(2785-2787)aGa>aTa	p.R929I	NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	929					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGAAGCCCCAGAGCTGGGCAA	0.557																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(2785-2787)aGa>aTa		neuron navigator 1							41.0	45.0	43.0					1																	201752962		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201752962G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2786G>T	1.37:g.201752962G>T	ENSP00000356265:p.Arg929Ile					NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I|NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|IPO9-AS1_ENST00000413035.1_RNA	p.R929I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			7	3206	+			929					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.2786G>T	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.510195|3.510195	0.64522|0.64522	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.08458	.|3.09;3.11;3.11;3.11;3.09;3.11	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.162145	.|0.50627	.|D	.|0.000111	T|T	0.24160|0.24160	0.0585|0.0585	L|L	0.47190|0.47190	1.495|1.495	0.52099|0.52099	D|D	0.999944|0.999944	.|P;P;P;D;P	.|0.71674	.|0.806;0.804;0.558;0.998;0.804	.|B;B;B;D;B	.|0.76575	.|0.312;0.324;0.12;0.988;0.324	T|T	0.00129|0.00129	-1.2016|-1.2016	5|10	.|0.87932	.|D	.|0	-26.312|-26.312	17.2444|17.2444	0.87023|0.87023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|929;538;929;437;929	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	H|I	486|942;929;929;929;929;437;538	.|ENSP00000356271:R942I;ENSP00000356265:R929I;ENSP00000295624:R929I;ENSP00000356266:R929I;ENSP00000356269:R929I;ENSP00000356264:R538I	.|ENSP00000295624:R929I	Q|R	+|+	3|2	2|0	NAV1|NAV1	200019585|200019585	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.905000|0.905000	0.53344|0.53344	5.349000|5.349000	0.66010|0.66010	2.596000|2.596000	0.87737|0.87737	0.460000|0.460000	0.39030|0.39030	CAG|AGA		0.557	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		83	305	1	0	6.31949e-53	1	7.86834e-53	83	305				
MCTP2	55784	broad.mit.edu	37	15	94841523	94841523	+	Missense_Mutation	SNP	G	G	A	rs367656045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841523G>A	ENST00000357742.4	+	1	29	c.29G>A	c.(28-30)gGc>gAc	p.G10D	MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	10					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGTTTGGGGCTCATTAAAA	0.463																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(28-30)gGc>gAc		multiple C2 domains, transmembrane 2							95.0	97.0	96.0					15																	94841523		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841523G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.29G>A	15.37:g.94841523G>A	ENSP00000350377:p.Gly10Asp					MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR	p.G10D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	29	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		10					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.29G>A	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025205	0.35701	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.74947	-0.89;-0.63;-0.48	5.02	2.11	0.27256	.	0.000000	0.53938	D	0.000051	T	0.62998	0.2474	N	0.19112	0.55	0.80722	D	1	P;B;B;P;P	0.46327	0.587;0.412;0.289;0.803;0.876	B;B;B;B;P	0.48166	0.245;0.137;0.065;0.249;0.569	T	0.58092	-0.7697	10	0.42905	T	0.14	.	8.3384	0.32228	0.3112:0.0:0.6888:0.0	.	10;10;10;10;10	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	D	10	ENSP00000438521:G10D;ENSP00000395109:G10D;ENSP00000350377:G10D	ENSP00000350377:G10D	G	+	2	0	MCTP2	92642527	0.999000	0.42202	0.589000	0.28718	0.452000	0.32318	2.963000	0.49184	0.170000	0.19704	0.655000	0.94253	GGC		0.463	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		96	417	0	0	0	1	0	96	417				
ZMAT3	64393	broad.mit.edu	37	3	178785487	178785487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785487C>T	ENST00000311417.2	-	2	795	c.54G>A	c.(52-54)tcG>tcA	p.S18S	ZMAT3_ENST00000432729.1_Silent_p.S18S	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.S18S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ACATAGGAGGCGAGGGTGAGG	0.572																																						ENST00000311417.2																			1	Substitution - coding silent(1)	p.S18S(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(52-54)tcG>tcA		zinc finger, matrin-type 3							140.0	143.0	142.0					3																	178785487		2203	4300	6503	SO:0001819	synonymous_variant	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785487C>T	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.54G>A	3.37:g.178785487C>T						ZMAT3_ENST00000432729.1_Silent_p.S18S	p.S18S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	795	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		18						Silent	SNP	ENST00000311417.2	37	c.54G>A	CCDS3224.1																																																																																				0.572	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		147	602	0	0	0	1	0	147	602				
C12orf56	115749	broad.mit.edu	37	12	64664489	64664489	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64664489A>G	ENST00000543942.2	-	12	2216	c.1590T>C	c.(1588-1590)acT>acC	p.T530T	C12orf56_ENST00000333722.5_Silent_p.T370T|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	530										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGCCACAAAAGTAATCTAGA	0.438																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(1588-1590)acT>acC		chromosome 12 open reading frame 56							72.0	67.0	69.0					12																	64664489		1890	4129	6019	SO:0001819	synonymous_variant	115749							g.chr12:64664489A>G		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1590T>C	12.37:g.64664489A>G						C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Silent_p.T370T|RPS11P6_ENST00000535684.1_RNA	p.T530T	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	12	2216	-			533						Silent	SNP	ENST00000543942.2	37	c.1590T>C																																																																																					0.438	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		40	158	0	0	0	1	0	40	158				
TTLL8	164714	broad.mit.edu	37	22	50454928	50454928	+	Missense_Mutation	SNP	G	G	A	rs373725189|rs540321694	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50454928G>A	ENST00000266182.6	-	13	2266	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	TTLL8_ENST00000440475.1_Missense_Mutation_p.T736M			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	772					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGTGGTGCCCGTGGTCTGGCA	0.672													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17989	0.0		0.0	False		,,,				2504	0.0					ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(2266-2268)aCg>aTg		tubulin tyrosine ligase-like family, member 8		G		9,4269		0,9,2130	12.0	16.0	15.0			-1.5	0.0	22		15	0,8496		0,0,4248	no	intergenic				0,9,6378	AA,AG,GG		0.0,0.2104,0.0705			50454928	9,12765	2139	4248	6387	SO:0001583	missense	164714							g.chr22:50454928G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.2267C>T	22.37:g.50454928G>A	ENSP00000266182:p.Thr756Met					TTLL8_ENST00000440475.1_Missense_Mutation_p.T736M	p.T756M						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	13	2266	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.2267C>T		.	.	.	.	.	.	.	.	.	.	g	4.704	0.130829	0.08981	0.002104	0.0	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.04502	3.61;3.72;3.72	0.762	-1.52	0.08637	.	.	.	.	.	T	0.02156	0.0067	.	.	.	0.09310	N	1	D	0.56287	0.975	B	0.26693	0.072	T	0.42032	-0.9475	8	0.62326	D	0.03	.	2.3857	0.04365	0.0:0.288:0.3425:0.3695	.	756	B5MDV0	.	M	756;736;772	ENSP00000266182:T756M;ENSP00000387509:T736M;ENSP00000392252:T772M	ENSP00000266182:T756M	T	-	2	0	TTLL8	48797055	0.000000	0.05858	0.002000	0.10522	0.109000	0.19521	-0.906000	0.04071	-0.888000	0.03956	0.298000	0.19748	ACG		0.672	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		7	27	0	0	0	1	0	7	27				
XIRP2	129446	broad.mit.edu	37	2	167760305	167760305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167760305C>T	ENST00000409728.1	+	2	402	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	XIRP2_ENST00000409195.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R105C(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGCAGTCGGCGCAGGATTGA	0.512																																						ENST00000409195.1																			2	Substitution - Missense(2)	p.R105C(2)	large_intestine(2)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(313-315)Cgc>Tgc		xin actin-binding repeat containing 2							114.0	116.0	115.0					2																	167760305		2024	4159	6183	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760305C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.313C>T	2.37:g.167760305C>T	ENSP00000386619:p.Arg105Cys					XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409728.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C	p.R105C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			2	402	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.313C>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511643	0.27036	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.82344	-1.58;-1.6;3.79;-1.58;-1.6;3.79	5.12	4.23	0.50019	.	.	.	.	.	T	0.75102	0.3804	.	.	.	0.40273	D	0.978316	P;P	0.46395	0.877;0.877	B;B	0.38562	0.276;0.276	T	0.78661	-0.2117	8	0.87932	D	0	-2.224	8.5532	0.33465	0.0:0.8965:0.0:0.1035	.	105;105	A4UGR9-4;A4UGR9-6	.;.	C	105	ENSP00000386454:R105C;ENSP00000386619:R105C;ENSP00000386840:R105C;ENSP00000386724:R105C;ENSP00000415541:R105C;ENSP00000295237:R105C	ENSP00000295237:R105C	R	+	1	0	XIRP2	167468551	0.964000	0.33143	0.939000	0.37840	0.218000	0.24690	1.551000	0.36233	2.390000	0.81377	0.655000	0.94253	CGC		0.512	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		64	307	0	0	0	1	0	64	307				
KIZ-AS1	101929591	broad.mit.edu	37	20	21142511	21142511	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142511G>A	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TGGTGTTGCAGGTTGCAGTGC	0.408																																						ENST00000591761.1																			0																				59.0	53.0	55.0					20																	21142511		1895	4105	6000			0							g.chr20:21142511G>A																													20.37:g.21142511G>A						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.408	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			21	196	0	0	0	1	0	21	196				
OLIG3	167826	broad.mit.edu	37	6	137814819	137814819	+	Silent	SNP	G	G	A	rs550760506	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814819G>A	ENST00000367734.2	-	1	712	c.489C>T	c.(487-489)acC>acT	p.T163T		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	163					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTGGCCCACGGTCCCGCAGT	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		14694	0.002		0.0	False		,,,				2504	0.0					ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(487-489)acC>acT		oligodendrocyte transcription factor 3							32.0	34.0	33.0					6																	137814819		2203	4300	6503	SO:0001819	synonymous_variant	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814819G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.489C>T	6.37:g.137814819G>A							p.T163T	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	712	-	Breast(32;0.165)|Colorectal(23;0.24)		163					Q8N8Q0	Silent	SNP	ENST00000367734.2	37	c.489C>T	CCDS5186.1																																																																																				0.667	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		28	218	0	0	0	1	0	28	218				
KIF27	55582	broad.mit.edu	37	9	86518147	86518147	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518147A>G	ENST00000297814.2	-	4	1429	c.1286T>C	c.(1285-1287)gTc>gCc	p.V429A	KIF27_ENST00000413982.1_Missense_Mutation_p.V429A|KIF27_ENST00000334204.2_Missense_Mutation_p.V429A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	429					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTTTAGTCTGACAGTATCTTT	0.468																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1285-1287)gTc>gCc		kinesin family member 27							183.0	164.0	170.0					9																	86518147		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518147A>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1286T>C	9.37:g.86518147A>G	ENSP00000297814:p.Val429Ala					KIF27_ENST00000334204.2_Missense_Mutation_p.V429A|KIF27_ENST00000413982.1_Missense_Mutation_p.V429A	p.V429A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	1429	-			429					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1286T>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	A	1.074	-0.669059	0.03403	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.68903	-0.36;-0.35;-0.22	5.37	3.04	0.35103	.	0.258741	0.26863	N	0.022107	T	0.50103	0.1596	L	0.46157	1.445	0.20821	N	0.999842	B;B;B	0.25850	0.049;0.136;0.132	B;B;B	0.22152	0.018;0.038;0.021	T	0.32481	-0.9905	10	0.06625	T	0.88	.	7.501	0.27518	0.696:0.0:0.304:0.0	.	429;429;429	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	A	429	ENSP00000297814:V429A;ENSP00000401688:V429A;ENSP00000333928:V429A	ENSP00000297814:V429A	V	-	2	0	KIF27	85707967	0.944000	0.32072	0.924000	0.36721	0.842000	0.47809	3.340000	0.52143	0.883000	0.36040	0.533000	0.62120	GTC		0.468	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		62	319	0	0	0	1	0	62	319				
MAL	4118	broad.mit.edu	37	2	95715347	95715347	+	Missense_Mutation	SNP	G	G	A	rs11553832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95715347G>A	ENST00000309988.4	+	3	392	c.283G>A	c.(283-285)Gct>Act	p.A95T	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|AC103563.9_ENST00000442200.1_RNA|MAL_ENST00000354078.3_Missense_Mutation_p.A39T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	95	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCACTGCACCGCTGCCCTCTT	0.622																																						ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(283-285)Gct>Act		mal, T-cell differentiation protein							141.0	126.0	131.0					2																	95715347		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95715347G>A		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.283G>A	2.37:g.95715347G>A	ENSP00000310880:p.Ala95Thr					MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Missense_Mutation_p.A39T	p.A95T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	3	392	+			95			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.283G>A	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478948	0.44044	.	.	ENSG00000172005	ENST00000309988;ENST00000354078	T	0.27557	1.66	5.59	4.7	0.59300	Marvel (1);MARVEL-like domain (1);	0.252264	0.45606	D	0.000360	T	0.29126	0.0724	L	0.49126	1.545	0.80722	D	1	P;P	0.49783	0.487;0.928	B;B	0.42343	0.137;0.384	T	0.05225	-1.0898	10	0.51188	T	0.08	.	10.7323	0.46104	0.089:0.0:0.911:0.0	.	39;95	P21145-3;P21145	.;MAL_HUMAN	T	95;39	ENSP00000310880:A95T	ENSP00000310880:A95T	A	+	1	0	MAL	95079074	1.000000	0.71417	0.367000	0.25926	0.249000	0.25844	6.214000	0.72200	1.347000	0.45714	0.561000	0.74099	GCT		0.622	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		15	833	0	0	0	1	0	15	833				
SACS	26278	broad.mit.edu	37	13	23929330	23929330	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929330C>T	ENST00000382292.3	-	7	1694	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.R474H|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	474					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATGCTCCTGCGGTTATCAGT	0.483																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(1420-1422)cGc>cAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							57.0	56.0	56.0					13																	23929330		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929330C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1421G>A	13.37:g.23929330C>T	ENSP00000371729:p.Arg474His					SACS_ENST00000382292.3_Missense_Mutation_p.R474H|SACS_ENST00000402364.1_5'UTR	p.R474H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	2009	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	474					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1421G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	33	5.251455	0.95305	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.19669	2.13;2.13;2.13	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.88310	2.945	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.63166	-0.6698	10	0.87932	D	0	.	19.9404	0.97159	0.0:1.0:0.0:0.0	.	373;261;474	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	H	474;474;98	ENSP00000371729:R474H;ENSP00000371735:R474H;ENSP00000390925:R98H	ENSP00000371729:R474H	R	-	2	0	SACS	22827330	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.788000	0.95919	0.555000	0.69702	CGC		0.483	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	279	0	0	0	1	0	7	279				
TSSK1B	83942	broad.mit.edu	37	5	112770312	112770312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112770312G>A	ENST00000390666.3	-	1	416	c.225C>T	c.(223-225)acC>acT	p.T75T	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGATCTCGTAGGTCTTAATGA	0.532																																						ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(223-225)acC>acT		testis-specific serine kinase 1B							59.0	64.0	62.0					5																	112770312		2169	4285	6454	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770312G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.225C>T	5.37:g.112770312G>A						CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	p.T75T	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	416	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	75			Protein kinase.		B2R8D9	Silent	SNP	ENST00000390666.3	37	c.225C>T	CCDS4112.1																																																																																				0.532	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		56	234	0	0	0	1	0	56	234				
ZNF425	155054	broad.mit.edu	37	7	148801223	148801223	+	Missense_Mutation	SNP	C	C	A	rs143783393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801223C>A	ENST00000378061.2	-	4	1872	c.1740G>T	c.(1738-1740)aaG>aaT	p.K580N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	580					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACGCGAAGGGCTTCTCGTCCC	0.597																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1738-1740)aaG>aaT		zinc finger protein 425							73.0	62.0	66.0					7																	148801223		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801223C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1740G>T	7.37:g.148801223C>A	ENSP00000367300:p.Lys580Asn						p.K580N	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1872	-	Melanoma(164;0.15)		580					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1740G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567119	0.45694	.	.	ENSG00000204947	ENST00000378061	T	0.08546	3.08	3.42	2.51	0.30379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19967	0.0480	M	0.81112	2.525	0.27794	N	0.94271	D	0.59357	0.985	P	0.54590	0.756	T	0.07158	-1.0787	9	0.87932	D	0	.	5.9994	0.19511	0.0:0.7513:0.0:0.2486	.	580	Q6IV72	ZN425_HUMAN	N	580	ENSP00000367300:K580N	ENSP00000367300:K580N	K	-	3	2	ZNF425	148432156	0.097000	0.21791	0.054000	0.19295	0.376000	0.30014	0.637000	0.24659	0.741000	0.32674	0.655000	0.94253	AAG		0.597	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		63	296	1	0	5.73332e-34	1	6.80828e-34	63	296				
TMEM95	339168	broad.mit.edu	37	17	7259362	7259362	+	Missense_Mutation	SNP	G	G	A	rs199941572		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259362G>A	ENST00000576060.1	+	4	349	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TMEM95_ENST00000389982.4_Missense_Mutation_p.A108T|TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	108						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGTCCCCCCGCCTGCCGTGA	0.597											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389982.4																			0				large_intestine(1)|lung(2)	3						c.(322-324)Gcc>Acc		transmembrane protein 95		G	THR/ALA	0,4406		0,0,2203	76.0	76.0	76.0		322	1.7	0.2	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM95	NM_198154.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	108/185	7259362	1,13005	2203	4300	6503	SO:0001583	missense	339168					integral to membrane		g.chr17:7259362G>A		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.322G>A	17.37:g.7259362G>A	ENSP00000460828:p.Ala108Thr		OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T|TMEM95_ENST00000576060.1_Missense_Mutation_p.A108T	p.A108T			Q3KNT9	TMM95_HUMAN			4	404	+		Prostate(122;0.173)	108					B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.322G>A		.	.	.	.	.	.	.	.	.	.	G	12.46	1.944504	0.34283	0.0	1.16E-4	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	1.7	0.24286	.	0.179711	0.27176	N	0.020567	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	0.999995	B;P;B	0.34462	0.168;0.454;0.168	B;B;B	0.26614	0.022;0.071;0.022	T	0.10989	-1.0606	9	0.45353	T	0.12	.	4.215	0.10530	0.1913:0.0:0.6273:0.1814	.	108;108;108	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	T	108	.	ENSP00000331466:A108T	A	+	1	0	TMEM95	7200086	0.001000	0.12720	0.233000	0.24025	0.123000	0.20343	0.341000	0.19909	0.250000	0.21479	-0.215000	0.12644	GCC		0.597	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		118	407	0	0	0	1	0	118	407				
AMIGO1	57463	broad.mit.edu	37	1	110051532	110051532	+	Start_Codon_SNP	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110051532C>T	ENST00000369864.4	-	2	352	c.3G>A	c.(1-3)atG>atA	p.M1I	AMIGO1_ENST00000369862.1_Start_Codon_SNP_p.M1I					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTGGGGGTGCATAGTGTCAC	0.617																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1-3)atG>atA		adhesion molecule with Ig-like domain 1							10.0	13.0	12.0					1																	110051532		2191	4288	6479	SO:0001582	initiator_codon_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110051532C>T		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.3G>A	1.37:g.110051532C>T	ENSP00000358880:p.Met1Ile					AMIGO1_ENST00000369862.1_Start_Codon_SNP_p.M1I	p.M1I			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	352	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	1						Translation_Start_Site	SNP	ENST00000369864.4	37	c.3G>A	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728401	0.48833	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.48836	0.8;0.8	5.07	5.07	0.68467	.	0.213428	0.30547	U	0.009382	T	0.56906	0.2017	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.61222	-0.7106	9	0.87932	D	0	-15.621	15.4744	0.75465	0.0:1.0:0.0:0.0	.	1	Q86WK6	AMGO1_HUMAN	I	1	ENSP00000358880:M1I;ENSP00000358878:M1I	ENSP00000358878:M1I	M	-	3	0	AMIGO1	109853055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.855000	0.39378	2.625000	0.88918	0.650000	0.86243	ATG		0.617	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703	Missense_Mutation	21	41	0	0	0	1	0	21	41				
KIAA1841	84542	broad.mit.edu	37	2	61336419	61336419	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61336419T>C	ENST00000402291.1	+	16	1973	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P	KIAA1841_ENST00000453873.1_Missense_Mutation_p.S578P|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S578P|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	578										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGAAGAAGTATCCAAGAAACA	0.353																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1732-1734)Tcc>Ccc		KIAA1841							91.0	99.0	97.0					2																	61336419		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61336419T>C	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1732T>C	2.37:g.61336419T>C	ENSP00000385579:p.Ser578Pro					KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S578P|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S578P	p.S578P	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		16	1973	+			578					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1732T>C	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573965	0.45902	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.5	-1.11	0.09840	.	0.235442	0.43919	D	0.000513	T	0.38612	0.1047	L	0.56769	1.78	0.36252	D	0.853974	P;P	0.42993	0.797;0.472	B;B	0.41135	0.348;0.132	T	0.41395	-0.9511	10	0.45353	T	0.12	-3.3521	7.2753	0.26281	0.2444:0.0:0.2038:0.5518	.	578;578	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	P	578	ENSP00000385579:S578P;ENSP00000295031:S578P;ENSP00000349154:S578P;ENSP00000416795:S578P	ENSP00000295031:S578P	S	+	1	0	KIAA1841	61189923	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.045000	0.41250	0.005000	0.14708	0.477000	0.44152	TCC		0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		11	478	0	0	0	1	0	11	478				
APEH	327	broad.mit.edu	37	3	49723901	49723901	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49723901C>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_Missense_Mutation_p.Q212H|MST1_ENST00000449682.2_Missense_Mutation_p.Q287H|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000545762.1_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTGGCGGGGCTGTGCCTCGG	0.652																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(859-861)caG>caT		macrophage stimulating 1 (hepatocyte growth factor-like)							27.0	30.0	29.0					3																	49723901		2202	4297	6499	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723901C>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723901C>A						MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Q212H	p.Q287H	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1222	-			273			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.861G>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703548	0.48412	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.62232	0.04;0.04	4.85	-3.32	0.04973	Kringle (1);Kringle-like fold (1);	0.181807	0.26665	N	0.023137	T	0.47173	0.1431	M	0.72118	2.19	0.19300	N	0.999978	B;B	0.09022	0.001;0.002	B;B	0.12837	0.004;0.008	T	0.32981	-0.9886	10	0.23891	T	0.37	.	0.8896	0.01252	0.4021:0.2414:0.1399:0.2166	.	273;287	P26927;G3XAK1	HGFL_HUMAN;.	H	287;212	ENSP00000414287:Q287H;ENSP00000373234:Q212H	ENSP00000373234:Q212H	Q	-	3	2	MST1	49698905	0.000000	0.05858	0.000000	0.03702	0.761000	0.43186	-1.327000	0.02682	-0.857000	0.04115	-0.843000	0.03049	CAG		0.652	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			14	226	1	0	1.15088e-07	1	1.19614e-07	14	226				
MGST2	4258	broad.mit.edu	37	4	140599697	140599697	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140599697G>A	ENST00000265498.1	+	2	311	c.59G>A	c.(58-60)aGt>aAt	p.S20N	MGST2_ENST00000515137.1_Intron|MGST2_ENST00000506797.1_Splice_Site_p.S20N	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	20					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|leukotriene biosynthetic process (GO:0019370)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Busulfan(DB01008)|Glutathione(DB00143)	TTACTTGCAGGTTATTTTGCT	0.398																																						ENST00000265498.1																			0				lung(1)|ovary(1)	2						c.e2-1		microsomal glutathione S-transferase 2	Glutathione(DB00143)						93.0	87.0	89.0					4																	140599697		2203	4300	6503	SO:0001630	splice_region_variant	4258				glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity	g.chr4:140599697G>A	U77604	CCDS3749.1, CCDS56339.1	4q28.3	2012-06-21			ENSG00000085871	ENSG00000085871	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7063	protein-coding gene	gene with protein product		601733				8703034	Standard	NM_002413		Approved	MGST-II	uc003ihy.3	Q99735	OTTHUMG00000133382	ENST00000265498.1:c.59-1G>A	4.37:g.140599697G>A						MGST2_ENST00000506797.1_Splice_Site_p.S20_splice|MGST2_ENST00000515137.1_Intron	p.S20_splice	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN			2	311	+	all_hematologic(180;0.162)		20					D6RBB5|Q7Z5B8	Splice_Site	SNP	ENST00000265498.1	37	c.58_splice	CCDS3749.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345809	0.41599	.	.	ENSG00000085871	ENST00000265498;ENST00000506797	T;T	0.68765	0.37;-0.35	5.25	-0.316	0.12743	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.228496	0.35646	N	0.003078	T	0.49012	0.1532	L	0.52364	1.645	0.29147	N	0.878651	B	0.12630	0.006	B	0.12156	0.007	T	0.21042	-1.0257	9	.	.	.	.	1.4533	0.02380	0.1712:0.1329:0.4008:0.2952	.	20	Q99735	MGST2_HUMAN	N	20	ENSP00000265498:S20N;ENSP00000424278:S20N	.	S	+	2	0	MGST2	140819147	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	0.295000	0.19065	0.185000	0.20105	0.561000	0.74099	AGT		0.398	MGST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257232.2	NM_002413	Missense_Mutation	31	136	0	0	0	1	0	31	136				
TPO	7173	broad.mit.edu	37	2	1459850	1459850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1459850C>T	ENST00000345913.4	+	7	706	c.615C>T	c.(613-615)gtC>gtT	p.V205V	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	205					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTACCCAGGTCCGGGAGGTGA	0.498																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(613-615)gtC>gtT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						84.0	62.0	70.0					2																	1459850		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459850C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.615C>T	2.37:g.1459850C>T						TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V	p.V205V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	706	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	205					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.615C>T	CCDS1643.1																																																																																				0.498	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		42	113	0	0	0	1	0	42	113				
ROCK2	9475	broad.mit.edu	37	2	11337362	11337362	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11337362T>C	ENST00000315872.6	-	27	3840	c.3392A>G	c.(3391-3393)gAt>gGt	p.D1131G	ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1131		Cleavage; by granzyme B.			actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTGGAACTATCCAGACCAAT	0.433																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3391-3393)gAt>gGt		Rho-associated, coiled-coil containing protein kinase 2							124.0	117.0	120.0					2																	11337362		1982	4162	6144	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11337362T>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3392A>G	2.37:g.11337362T>C	ENSP00000317985:p.Asp1131Gly					ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	p.D1131G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	27	3840	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1131				Cleavage; by granzyme B.	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.3392A>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885433	0.91814	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64991	-0.13;0.9	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.74881	2.28	0.80722	D	1	D	0.56035	0.974	P	0.53062	0.717	T	0.74447	-0.3662	10	0.42905	T	0.14	.	16.0084	0.80380	0.0:0.0:0.0:1.0	.	1131	O75116	ROCK2_HUMAN	G	1131;888;489	ENSP00000317985:D1131G;ENSP00000385509:D888G	ENSP00000317985:D1131G	D	-	2	0	ROCK2	11254813	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.842000	0.86851	2.180000	0.69256	0.460000	0.39030	GAT		0.433	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			141	345	0	0	0	1	0	141	345				
TRPM6	140803	broad.mit.edu	37	9	77354846	77354846	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354846C>A	ENST00000360774.1	-	34	5517	c.5280G>T	c.(5278-5280)caG>caT	p.Q1760H	TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1760	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTCCCACGCTGAGACCAAG	0.502																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5290-5292)caG>caT		transient receptor potential cation channel, subfamily M, member 6							92.0	79.0	84.0					9																	77354846		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354846C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5280G>T	9.37:g.77354846C>A	ENSP00000354006:p.Gln1760His					TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1760H	p.Q1764H			Q9BX84	TRPM6_HUMAN			33	5529	-			1760			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5292G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209622	0.79240	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28	5.96	5.06	0.68205	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.440036	0.27807	N	0.017768	T	0.15825	0.0381	L	0.57536	1.79	0.44985	D	0.998002	B;B;P;D;D;D	0.64830	0.415;0.415;0.886;0.99;0.971;0.994	B;B;B;P;P;P	0.54140	0.106;0.167;0.408;0.558;0.545;0.743	T	0.00045	-1.2216	10	0.56958	D	0.05	.	15.4711	0.75441	0.0:0.9331:0.0:0.0669	.	307;593;711;1760;1755;1755	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	H	1760;1764;715;597;1755;1755;306;1764	ENSP00000354006:Q1760H;ENSP00000407341:Q1764H;ENSP00000366068:Q715H;ENSP00000366067:Q597H;ENSP00000396672:Q1755H;ENSP00000354962:Q1755H;ENSP00000366060:Q1764H	ENSP00000354006:Q1760H	Q	-	3	2	TRPM6	76544666	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.496000	0.35638	2.832000	0.97577	0.655000	0.94253	CAG		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		61	290	1	0	4.88506e-25	1	5.59823e-25	61	290				
OR5M9	390162	broad.mit.edu	37	11	56230077	56230077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56230077C>T	ENST00000279791.1	-	1	800	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTTGCCCTGCTCTACGGATT	0.463																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(799-801)gaG>gaA		olfactory receptor, family 5, subfamily M, member 9							86.0	75.0	78.0					11																	56230077		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230077C>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.801G>A	11.37:g.56230077C>T							p.E267E	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	800	-	Esophageal squamous(21;0.00448)		267					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.801G>A	CCDS31531.1																																																																																				0.463	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		60	285	0	0	0	1	0	60	285				
SEC1P	653677	broad.mit.edu	37	19	49183750	49183750	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49183750G>A	ENST00000430145.2	+	0	837					NR_004401.2				secretory blood group 1, pseudogene																		CACCACCTCCGCCAGGAGATC	0.677																																						ENST00000430145.2																			0																																																			0							g.chr19:49183750G>A			19q13.33	2012-07-04			ENSG00000232871	ENSG00000232871			44149	pseudogene	pseudogene							Standard	NR_004401		Approved		uc010xzv.2		OTTHUMG00000154617		19.37:g.49183750G>A								NR_004401.2						0	837	+									RNA	SNP	ENST00000430145.2	37																																																																																						0.677	SEC1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000336334.1	NR_004401		43	206	0	0	0	1	0	43	206				
POLQ	10721	broad.mit.edu	37	3	121258312	121258312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121258312C>T	ENST00000264233.5	-	4	727	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R333H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCTATGAGGCGATTGATCAG	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(598-600)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							123.0	121.0	121.0					3																	121258312		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121258312C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.599G>A	3.37:g.121258312C>T	ENSP00000264233:p.Arg200His						p.R200H	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	4	727	-			200			Helicase ATP-binding.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.599G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426896	0.96131	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.15603	2.41	5.97	5.97	0.96955	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.141423	0.64402	D	0.000008	T	0.41994	0.1183	M	0.67700	2.07	0.80722	D	1	D	0.62365	0.991	D	0.63381	0.914	T	0.08785	-1.0705	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	200	O75417	DPOLQ_HUMAN	H	200;335	ENSP00000264233:R200H	ENSP00000264233:R200H	R	-	2	0	POLQ	122741002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.738000	0.68613	2.828000	0.97474	0.655000	0.94253	CGC		0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		66	348	0	0	0	1	0	66	348				
AHNAK	79026	broad.mit.edu	37	11	62285755	62285755	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285755A>G	ENST00000378024.4	-	5	16408	c.16134T>C	c.(16132-16134)ggT>ggC	p.G5378G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5378					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTGATGTCACCAGAGACAG	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16132-16134)ggT>ggC		AHNAK nucleoprotein							102.0	83.0	89.0					11																	62285755		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62285755A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16134T>C	11.37:g.62285755A>G						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G5378G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16408	-		Melanoma(852;0.155)	5378					A1A586	Silent	SNP	ENST00000378024.4	37	c.16134T>C	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		78	385	0	0	0	1	0	78	385				
NRXN3	9369	broad.mit.edu	37	14	79175616	79175616	+	Silent	SNP	G	G	A	rs201310991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175616G>A	ENST00000554719.1	+	4	650	c.159G>A	c.(157-159)gcG>gcA	p.A53A	NRXN3_ENST00000335750.5_Silent_p.A53A|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.A53A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCGGATTGCGGACACCAAGA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19170	0.0		0.001	False		,,,				2504	0.0					ENST00000554719.1																			1	Substitution - coding silent(1)	p.A53A(1)	upper_aerodigestive_tract(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(157-159)gcG>gcA		neurexin 3							92.0	92.0	92.0					14																	79175616		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175616G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.159G>A	14.37:g.79175616G>A						RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.A53A	p.A53A	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	650	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.159G>A	CCDS9870.1																																																																																				0.463	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		64	319	0	0	0	1	0	64	319				
SETD8	387893	broad.mit.edu	37	12	123889552	123889552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123889552C>T	ENST00000402868.3	+	7	1205	c.779C>T	c.(778-780)gCt>gTt	p.A260V	SETD8_ENST00000330479.4_Missense_Mutation_p.A260V			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	301	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AAACGGGAGGCTCTGTACGCA	0.542																																						ENST00000402868.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13						c.(778-780)gCt>gTt		SET domain containing (lysine methyltransferase) 8							52.0	48.0	49.0					12																	123889552		2203	4297	6500	SO:0001583	missense	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123889552C>T	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.779C>T	12.37:g.123889552C>T	ENSP00000384629:p.Ala260Val					SETD8_ENST00000330479.4_Missense_Mutation_p.A260V	p.A260V			Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	7	1205	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		301			SET.		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	c.779C>T	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708942	0.89018	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.85773	-2.03;-2.03;-2.03	5.02	5.02	0.67125	SET domain (3);	0.046821	0.85682	D	0.000000	T	0.78285	0.4259	L	0.31804	0.96	0.80722	D	1	P;P	0.36438	0.553;0.498	B;B	0.30943	0.122;0.074	T	0.80202	-0.1480	10	0.54805	T	0.06	-12.6544	18.7023	0.91625	0.0:1.0:0.0:0.0	.	301;260	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	V	260;260;251	ENSP00000384629:A260V;ENSP00000332995:A260V;ENSP00000413811:A251V	ENSP00000332995:A260V	A	+	2	0	SETD8	122455505	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.050000	0.71063	2.492000	0.84095	0.655000	0.94253	GCT		0.542	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		45	236	0	0	0	1	0	45	236				
GAS6	2621	broad.mit.edu	37	13	114530064	114530064	+	Missense_Mutation	SNP	G	G	A	rs202234400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114530064G>A	ENST00000327773.6	-	12	1528	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6_ENST00000357389.3_Missense_Mutation_p.T504M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	504	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CACTTTCACCGTTTCCTGGAT	0.557																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1510-1512)aCg>aTg		growth arrest-specific 6		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	183.0	140.0	155.0		1382,563,485	3.5	0.0	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	461/679,188/406,162/380	114530064	1,13005	2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114530064G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1382C>T	13.37:g.114530064G>A	ENSP00000331831:p.Thr461Met					GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M|GAS6_ENST00000327773.6_Missense_Mutation_p.T461M	p.T504M			Q14393	GAS6_HUMAN			12	1663	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	504			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1511C>T	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516076	0.27123	0.0	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	D;D;D;D;D	0.91011	-2.77;-2.36;-2.09;-2.1;-2.77	4.55	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.92993	0.7770	M	0.72479	2.2	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.994;0.979	P;P;P	0.60949	0.881;0.619;0.653	D	0.92439	0.5960	9	0.48119	T	0.1	-19.8378	11.4483	0.50136	0.1599:0.0:0.8401:0.0	.	504;188;461	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	504;407;188;162;461	ENSP00000349962:T504M;ENSP00000348003:T407M;ENSP00000416498:T188M;ENSP00000400117:T162M;ENSP00000331831:T461M	ENSP00000331831:T461M	T	-	2	0	GAS6	113583879	1.000000	0.71417	0.041000	0.18516	0.008000	0.06430	5.680000	0.68168	2.067000	0.61834	0.462000	0.41574	ACG		0.557	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		62	325	0	0	0	1	0	62	325				
ADAMTS9	56999	broad.mit.edu	37	3	64536704	64536704	+	Missense_Mutation	SNP	C	C	A	rs372066084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64536704C>A	ENST00000498707.1	-	31	5075	c.4733G>T	c.(4732-4734)cGc>cTc	p.R1578L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1550L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1578	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACCACCTTGCGGTACCTGGA	0.498																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4732-4734)cGc>cTc		ADAM metallopeptidase with thrombospondin type 1 motif, 9							176.0	155.0	162.0					3																	64536704		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64536704C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4733G>T	3.37:g.64536704C>A	ENSP00000418735:p.Arg1578Leu					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1550L	p.R1578L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	31	5075	-		Lung NSC(201;0.00682)	1578			TSP type-1 13.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4733G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.516896|5.516896	0.96416|0.96416	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.80824	.|-1.42;-1.42	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94663|0.94663	0.8279|0.8279	H|H	0.98936|0.98936	4.375|4.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.999;0.998	D|D	0.96322|0.96322	0.9237|0.9237	5|10	.|0.87932	.|D	.|0	.|.	20.1099|20.1099	0.97909|0.97909	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1550;1578;1578	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	S|L	634|1550;1578	.|ENSP00000295903:R1550L;ENSP00000418735:R1578L	.|ENSP00000295903:R1550L	A|R	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64511744|64511744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.969000|6.969000	0.76092|0.76092	2.753000|2.753000	0.94483|0.94483	0.585000|0.585000	0.79938|0.79938	GCA|CGC		0.498	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			10	735	1	0	0.000442599	1	0.000448314	10	735				
LEPRE1	64175	broad.mit.edu	37	1	43213012	43213012	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213012C>A	ENST00000296388.5	-	14	2037	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N|LEPRE1_ENST00000236040.4_Missense_Mutation_p.K662N|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	662	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGTGACAGCCTTCACTCCAT	0.627											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000236040.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1984-1986)aaG>aaT		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						55.0	57.0	56.0					1																	43213012		2202	4300	6502	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43213012C>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1986G>T	1.37:g.43213012C>A	ENSP00000296388:p.Lys662Asn		OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000296388.5_Missense_Mutation_p.K662N|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N	p.K662N	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			14	2026	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	662			Fe2OG dioxygenase.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1986G>T	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943455	0.53079	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.59906	0.23;0.23;0.23	5.27	5.27	0.74061	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.267222	0.42294	D	0.000724	T	0.47266	0.1436	N	0.25426	0.745	0.43719	D	0.996194	B;B;B	0.21147	0.052;0.011;0.036	B;B;B	0.17433	0.016;0.011;0.018	T	0.42361	-0.9456	10	0.52906	T	0.07	-35.5553	16.4003	0.83639	0.0:1.0:0.0:0.0	.	662;527;662	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	N	662;662;662;527	ENSP00000380245:K662N;ENSP00000236040:K662N;ENSP00000296388:K662N	ENSP00000236040:K662N	K	-	3	2	LEPRE1	42985599	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.479000	0.22228	2.466000	0.83321	0.655000	0.94253	AAG		0.627	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		45	323	1	0	6.14515e-18	1	6.80267e-18	45	323				
BRICD5	283870	broad.mit.edu	37	16	2259442	2259442	+	Missense_Mutation	SNP	C	C	T	rs199768716	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2259442C>T	ENST00000562360.1	-	5	703	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	BRICD5_ENST00000328540.3_Missense_Mutation_p.R203Q|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	235						integral component of membrane (GO:0016021)											ATAAATCAGCCGCTGTCTCCG	0.637													c|||	2	0.000399361	0.0	0.0014	5008	,	,		17278	0.001		0.0	False		,,,				2504	0.0					ENST00000328540.3																			0											c.(607-609)cGg>cAg		BRICHOS domain containing 5		T	GLN/ARG	0,4396		0,0,2198	55.0	56.0	56.0		608	5.0	1.0	16		56	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C16orf79	NM_182563.3	43	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	203/229	2259442	3,12993	2198	4300	6498	SO:0001583	missense	283870							g.chr16:2259442C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.704G>A	16.37:g.2259442C>T	ENSP00000455052:p.Arg235Gln					BRICD5_ENST00000562360.1_Missense_Mutation_p.R235Q	p.R203Q	NM_182563.3	NP_872369.2					6	1724	-								C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.608G>A	CCDS10463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.9	4.221581	0.79464	0.0	3.49E-4	ENSG00000182685	ENST00000328540	T	0.35421	1.31	5.95	5.01	0.66863	.	0.065248	0.64402	N	0.000018	T	0.60996	0.2312	.	.	.	0.80722	D	1	D;D	0.89917	0.983;1.0	P;D	0.91635	0.449;0.999	T	0.65467	-0.6161	9	0.59425	D	0.04	-12.2879	14.1573	0.65426	0.0:0.9276:0.0:0.0724	.	235;203	Q6PL45;Q6PL45-2	CP079_HUMAN;.	Q	203	ENSP00000332389:R203Q	ENSP00000332389:R203Q	R	-	2	0	C16orf79	2199443	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.807000	0.55591	1.539000	0.49286	-0.119000	0.15052	CGG		0.637	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		17	461	0	0	0	1	0	17	461				
GBE1	2632	broad.mit.edu	37	3	81810581	81810581	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810581T>C	ENST00000429644.2	-	1	731	c.88A>G	c.(88-90)Aga>Gga	p.R30G	RP11-142L1.1_ENST00000497946.1_lincRNA	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	30					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCCAGGAGTCTGGCCAGTTCG	0.677									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(88-90)Aga>Gga		glucan (1,4-alpha-), branching enzyme 1							40.0	49.0	46.0					3																	81810581		2032	4166	6198	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81810581T>C		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.88A>G	3.37:g.81810581T>C	ENSP00000410833:p.Arg30Gly						p.R30G	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	1	731	-		Lung NSC(201;0.0117)	30					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.88A>G	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	T	7.770	0.707351	0.15239	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.16897	2.31	3.75	1.78	0.24846	.	0.582540	0.16218	U	0.224159	T	0.06917	0.0176	N	0.11064	0.09	0.21445	N	0.999682	B	0.11235	0.004	B	0.15484	0.013	T	0.41680	-0.9495	10	0.02654	T	1	-7.4281	8.5349	0.33357	0.0:0.0:0.5115:0.4885	.	30	Q04446	GLGB_HUMAN	G	30;81	ENSP00000410833:R30G	ENSP00000264326:R81G	R	-	1	2	GBE1	81893271	0.004000	0.15560	0.010000	0.14722	0.719000	0.41307	0.293000	0.19029	0.284000	0.22305	0.379000	0.24179	AGA		0.677	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			59	267	0	0	0	1	0	59	267				
LDLRAD2	401944	broad.mit.edu	37	1	22140902	22140902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140902G>A	ENST00000344642.2	+	2	284	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.E33K	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	33						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CGACCTGGCGGAACTGTGCGG	0.692																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(97-99)Gaa>Aaa		low density lipoprotein receptor class A domain containing 2							9.0	11.0	10.0					1																	22140902		2069	4121	6190	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22140902G>A	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.97G>A	1.37:g.22140902G>A	ENSP00000340988:p.Glu33Lys					LDLRAD2_ENST00000543870.1_Missense_Mutation_p.E33K	p.E33K	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	284	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	33					B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.97G>A	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982013	0.53827	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.47869	0.83;0.83	4.28	1.21	0.21127	.	0.392379	0.20423	N	0.092625	T	0.24314	0.0589	N	0.08118	0	0.29724	N	0.838387	B	0.06786	0.001	B	0.09377	0.004	T	0.12502	-1.0545	10	0.56958	D	0.05	-1.406	7.3921	0.26915	0.0969:0.3537:0.5494:0.0	.	33	Q5SZI1	LRAD2_HUMAN	K	33	ENSP00000340988:E33K;ENSP00000444097:E33K	ENSP00000340988:E33K	E	+	1	0	LDLRAD2	22013489	1.000000	0.71417	0.948000	0.38648	0.523000	0.34469	2.647000	0.46639	0.075000	0.16796	0.297000	0.19635	GAA		0.692	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		6	113	0	0	0	1	0	6	113				
ACSBG2	81616	broad.mit.edu	37	19	6156513	6156513	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6156513T>C	ENST00000586696.1	+	5	734	c.458T>C	c.(457-459)gTg>gCg	p.V153A	ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000588304.1_Missense_Mutation_p.V103A|ACSBG2_ENST00000588485.1_Intron			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	153					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATGCCAAAGTGAACATCTTG	0.468																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(307-309)gTg>gCg		acyl-CoA synthetase bubblegum family member 2							168.0	156.0	160.0					19																	6156513		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6156513T>C		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.458T>C	19.37:g.6156513T>C	ENSP00000465589:p.Val153Ala					ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000586696.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000588485.1_Intron	p.V103A			Q5FVE4	ACBG2_HUMAN			5	754	+			153					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.308T>C	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	T	8.116	0.779798	0.16120	.	.	ENSG00000130377	ENST00000252669	T	0.36878	1.23	5.9	4.82	0.62117	AMP-dependent synthetase/ligase (1);	0.000000	0.35677	N	0.003056	T	0.10035	0.0246	N	0.01640	-0.785	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.11329	0.004;0.006	T	0.29488	-1.0010	10	0.02654	T	1	-42.6966	4.5681	0.12196	0.0:0.2211:0.0:0.7789	.	153;153	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	A	153	ENSP00000252669:V153A	ENSP00000252669:V153A	V	+	2	0	ACSBG2	6107513	1.000000	0.71417	0.892000	0.35008	0.963000	0.63663	5.382000	0.66213	2.251000	0.74343	0.528000	0.53228	GTG		0.468	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		136	515	0	0	0	1	0	136	515				
HIPK3	10114	broad.mit.edu	37	11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3073-3075)cGa>cAa		homeodomain interacting protein kinase 3							129.0	131.0	130.0					11																	33373714		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373714G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3074G>A	11.37:g.33373714G>A	ENSP00000304226:p.Arg1025Gln					HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q	p.R1025Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			16	3379	+			1025					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.3074G>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880365	0.33162	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.62	4.7	0.59300	.	0.145914	0.31872	N	0.006928	T	0.28267	0.0698	N	0.14661	0.345	0.49483	D	0.999795	B;B	0.14805	0.011;0.006	B;B	0.16289	0.015;0.006	T	0.08493	-1.0719	10	0.07325	T	0.83	.	13.6209	0.62136	0.0754:0.0:0.9246:0.0	.	1004;1025	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Q	1004;1025;1004;1004	ENSP00000431710:R1004Q;ENSP00000304226:R1025Q;ENSP00000368301:R1004Q;ENSP00000398241:R1004Q	ENSP00000304226:R1025Q	R	+	2	0	HIPK3	33330290	1.000000	0.71417	0.617000	0.29091	0.818000	0.46254	4.652000	0.61454	1.359000	0.45940	0.655000	0.94253	CGA		0.378	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		183	784	0	0	0	1	0	183	784				
GBA2	57704	broad.mit.edu	37	9	35749374	35749374	+	5'Flank	SNP	G	G	T	rs558548162		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35749374G>T	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_5'UTR|RGP1_ENST00000456972.2_Missense_Mutation_p.G24W|GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_Intron	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGAGGCCTAGGGGTGCCGAT	0.682																																						ENST00000456972.2																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(70-72)Ggg>Tgg		RGP1 retrograde golgi transport homolog (S. cerevisiae)							49.0	58.0	55.0					9																	35749374		1921	4109	6030	SO:0001631	upstream_gene_variant	9827							g.chr9:35749374G>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749374G>T	Exception_encountered					RGP1_ENST00000378078.4_5'UTR|GBA2_ENST00000545786.1_Intron	p.G24W			Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	70	+	all_epithelial(49;0.167)		0					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.70G>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452157	0.43531	.	.	ENSG00000107185	ENST00000456972	.	.	.	4.43	-0.2	0.13216	.	.	.	.	.	T	0.34687	0.0906	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37361	-0.9709	5	0.72032	D	0.01	.	2.7955	0.05400	0.092:0.1977:0.4314:0.2789	.	.	.	.	W	24	.	ENSP00000409466:G24W	G	+	1	0	RGP1	35739374	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.156000	0.10100	-0.072000	0.12864	0.491000	0.48974	GGG		0.682	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		18	112	1	0	1.33834e-09	1	1.40959e-09	18	112				
CDH15	1013	broad.mit.edu	37	16	89256843	89256843	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256843G>T	ENST00000289746.2	+	8	1236	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCACCCCCAGGCACTCTGGT	0.672																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1171-1173)Ggc>Tgc		cadherin 15, type 1, M-cadherin (myotubule)							25.0	24.0	24.0					16																	89256843		2194	4296	6490	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256843G>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1171G>T	16.37:g.89256843G>T	ENSP00000289746:p.Gly391Cys						p.G391C	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1236	+			391			Cadherin 4.			Missense_Mutation	SNP	ENST00000289746.2	37	c.1171G>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697553	0.48307	.	.	ENSG00000129910	ENST00000289746	T	0.70399	-0.48	4.52	4.52	0.55395	Cadherin (3);Cadherin-like (1);	0.000000	0.52532	D	0.000070	D	0.87111	0.6096	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90522	0.4489	10	0.87932	D	0	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	391	P55291	CAD15_HUMAN	C	391	ENSP00000289746:G391C	ENSP00000289746:G391C	G	+	1	0	CDH15	87784344	1.000000	0.71417	0.134000	0.22075	0.003000	0.03518	7.457000	0.80775	2.064000	0.61679	0.455000	0.32223	GGC		0.672	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		23	70	1	0	1.22574e-08	1	1.28258e-08	23	70				
SSPO	23145	broad.mit.edu	37	7	149481008	149481008	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149481008C>T	ENST00000378016.2	+	0	2490							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCTGGTGGCCAGGAGTACC	0.622																																						ENST00000378016.2																			0													SCO-spondin							46.0	51.0	49.0					7																	149481008		2137	4244	6381			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149481008C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481008C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2490	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				19	116	0	0	0	1	0	19	116				
DNMBP	23268	broad.mit.edu	37	10	101659757	101659757	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101659757T>C	ENST00000324109.4	-	7	2712	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G|DNMBP_ENST00000342239.3_Missense_Mutation_p.D874G	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	874	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AATGGCCTCATCATGATTCTG	0.443																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(2620-2622)gAt>gGt		dynamin binding protein							179.0	158.0	165.0					10																	101659757		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101659757T>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2621A>G	10.37:g.101659757T>C	ENSP00000315659:p.Asp874Gly					DNMBP_ENST00000324109.4_Missense_Mutation_p.D874G|DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G	p.D874G			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	7	2712	-		Colorectal(252;0.234)	874			DH.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2621A>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862457	0.91511	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.48	5.48	0.80851	Dbl homology (DH) domain (5);	0.000000	0.49916	D	0.000133	T	0.77922	0.4203	M	0.71871	2.18	0.80722	D	1	D;D;D	0.71674	0.998;0.982;0.998	D;P;D	0.72338	0.977;0.861;0.977	T	0.79890	-0.1612	10	0.59425	D	0.04	-24.5908	15.8535	0.78956	0.0:0.0:0.0:1.0	.	874;120;874	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	G	874;874;120;120;162;162	ENSP00000344914:D874G;ENSP00000315659:D874G;ENSP00000443657:D120G;ENSP00000409476:D162G	ENSP00000315659:D874G	D	-	2	0	DNMBP	101649747	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	7.929000	0.87595	2.207000	0.71202	0.459000	0.35465	GAT		0.443	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		94	523	0	0	0	1	0	94	523				
PTPRH	5794	broad.mit.edu	37	19	55713637	55713637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55713637C>T	ENST00000376350.3	-	6	962	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	314	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGGTCAGGGCGATGGAGCTG	0.582																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(940-942)Gcc>Acc		protein tyrosine phosphatase, receptor type, H							106.0	88.0	94.0					19																	55713637		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55713637C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.940G>A	19.37:g.55713637C>T	ENSP00000365528:p.Ala314Thr					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T	p.A314T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	6	962	-		Renal(1328;0.245)	314			Fibronectin type-III 4.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.940G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.534429	0.00145	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.54479	0.57;0.57	3.89	-1.5	0.08691	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19485	0.0468	N	0.03154	-0.405	0.09310	N	1	B;B;B	0.16396	0.004;0.003;0.017	B;B;B	0.12837	0.008;0.003;0.004	T	0.25847	-1.0120	9	0.02654	T	1	.	4.4153	0.11454	0.1487:0.1943:0.0:0.657	.	136;136;314	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	T	314;136	ENSP00000365528:A314T;ENSP00000263434:A136T	ENSP00000263434:A136T	A	-	1	0	PTPRH	60405449	0.751000	0.28327	0.088000	0.20740	0.011000	0.07611	0.629000	0.24538	-0.434000	0.07275	-2.769000	0.00120	GCC		0.582	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			62	341	0	0	0	1	0	62	341				
RAB32	10981	broad.mit.edu	37	6	146865053	146865053	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146865053G>A	ENST00000367495.3	+	1	225	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	16					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		ggcggccgccgccccagcgcc	0.741																																						ENST00000367495.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(46-48)Gcc>Acc		RAB32, member RAS oncogene family							14.0	15.0	15.0					6																	146865053		2195	4292	6487	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865053G>A	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.46G>A	6.37:g.146865053G>A	ENSP00000356465:p.Ala16Thr						p.A16T	NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	225	+		Ovarian(120;0.142)	16						Missense_Mutation	SNP	ENST00000367495.3	37	c.46G>A	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341737	0.24339	.	.	ENSG00000118508	ENST00000367495	T	0.71934	-0.61	3.91	-2.18	0.07037	.	1.151740	0.06349	N	0.709584	T	0.18425	0.0442	N	0.16130	0.375	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.03139	-1.1068	10	0.10636	T	0.68	-0.0129	0.2257	0.00173	0.2899:0.1442:0.2731:0.2929	.	16	Q13637	RAB32_HUMAN	T	16	ENSP00000356465:A16T	ENSP00000356465:A16T	A	+	1	0	RAB32	146906746	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.855000	0.04125	-0.315000	0.08773	GCC		0.741	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		24	78	0	0	0	1	0	24	78				
MADD	8567	broad.mit.edu	37	11	47296266	47296266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296266G>A	ENST00000311027.5	+	3	380	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	MADD_ENST00000406482.1_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000342922.4_Missense_Mutation_p.R72Q|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q|RP11-17G12.3_ENST00000545474.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATGAGCCTTCGGGATGATACC	0.562																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(214-216)cGg>cAg		MAP-kinase activating death domain							145.0	142.0	143.0					11																	47296266		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296266G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.215G>A	11.37:g.47296266G>A	ENSP00000310933:p.Arg72Gln					MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000311027.5_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000406482.1_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q	p.R72Q	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	572	+			72			UDENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.215G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	37	6.289652	0.97444	.	.	ENSG00000110514	ENST00000453571;ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.17	6.17	0.99709	uDENN (3);	0.054564	0.85682	D	0.000000	T	0.68201	0.2975	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0;0.998;1.0;0.998;0.998	D;D;D;D;D;D;P;D;D;D	0.91635	0.999;0.967;0.997;0.955;0.97;0.97;0.89;0.996;0.951;0.944	T	0.67201	-0.5730	10	0.66056	D	0.02	-19.198	20.8794	0.99867	0.0:0.0:1.0:0.0	.	72;72;72;72;72;72;72;72;72;72	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	72	ENSP00000343902:R72Q;ENSP00000385585:R72Q;ENSP00000384435:R72Q;ENSP00000304505:R72Q;ENSP00000310933:R72Q;ENSP00000384204:R72Q;ENSP00000378753:R72Q;ENSP00000413116:R72Q;ENSP00000378745:R72Q;ENSP00000384287:R72Q;ENSP00000402364:R72Q	ENSP00000310933:R72Q	R	+	2	0	MADD	47252842	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGG		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			233	942	0	0	0	1	0	233	942				
NLK	51701	broad.mit.edu	37	17	26495604	26495604	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26495604A>G	ENST00000407008.3	+	6	1686	c.968A>G	c.(967-969)gAc>gGc	p.D323G		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AATGCTATTGACATCTGGTCT	0.428																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(967-969)gAc>gGc		nemo-like kinase							160.0	154.0	156.0					17																	26495604		2203	4300	6503	SO:0001583	missense	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26495604A>G	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.968A>G	17.37:g.26495604A>G	ENSP00000384625:p.Asp323Gly						p.D323G	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	6	1686	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		323			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	c.968A>G	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848021	0.91277	.	.	ENSG00000087095	ENST00000407008	T	0.78816	-1.21	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94214	0.7461	10	0.87932	D	0	-8.5349	15.825	0.78698	1.0:0.0:0.0:0.0	.	323	Q9UBE8	NLK_HUMAN	G	323	ENSP00000384625:D323G	ENSP00000384625:D323G	D	+	2	0	NLK	23519731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAC		0.428	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		118	505	0	0	0	1	0	118	505				
BMP1	649	broad.mit.edu	37	8	22035193	22035193	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22035193C>A	ENST00000306385.5	+	6	1400				BMP1_ENST00000354870.5_Missense_Mutation_p.L282M|BMP1_ENST00000397816.3_Intron|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000397814.3_Intron	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGACTCTTCCTGAGACCCTC	0.592																																						ENST00000354870.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(844-846)Ctg>Atg		bone morphogenetic protein 1							134.0	131.0	132.0					8																	22035193		876	1991	2867	SO:0001627	intron_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22035193C>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.731-172C>A	8.37:g.22035193C>A						BMP1_ENST00000306385.5_Intron|BMP1_ENST00000397816.3_Intron|BMP1_ENST00000397814.3_Intron|BMP1_ENST00000306349.8_Intron	p.L282M			P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	6	1110	+			0			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.844C>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705770	0.30232	.	.	ENSG00000168487	ENST00000354870	T	0.81163	-1.46	4.28	-2.72	0.05968	.	.	.	.	.	T	0.74481	0.3722	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.67122	-0.5750	6	0.66056	D	0.02	.	5.66	0.17664	0.0:0.4642:0.1705:0.3653	.	.	.	.	M	282	ENSP00000346941:L282M	ENSP00000346941:L282M	L	+	1	2	BMP1	22091138	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	-0.759000	0.04761	-0.371000	0.08004	-0.339000	0.08088	CTG		0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		104	449	1	0	4.98208e-43	1	6.07636e-43	104	449				
ZNF699	374879	broad.mit.edu	37	19	9406257	9406257	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9406257C>A	ENST00000591998.1	-	6	2051	c.1823G>T	c.(1822-1824)aGc>aTc	p.S608I	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.S608I			Q32M78	ZN699_HUMAN	zinc finger protein 699	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCAGTGTGGCTTCTCACATG	0.443																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1822-1824)aGc>aTc		zinc finger protein 699							89.0	95.0	93.0					19																	9406257		2202	4300	6502	SO:0001583	missense	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9406257C>A	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1823G>T	19.37:g.9406257C>A	ENSP00000467723:p.Ser608Ile					ZNF699_ENST00000308650.3_Missense_Mutation_p.S608I	p.S608I			Q32M78	ZN699_HUMAN			6	2051	-			608					Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	c.1823G>T	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.458727	0.01062	.	.	ENSG00000196110	ENST00000308650	T	0.17691	2.26	3.59	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000443	T	0.03915	0.0110	N	0.01761	-0.735	0.09310	N	1	B	0.25850	0.136	B	0.26517	0.07	T	0.41875	-0.9484	10	0.02654	T	1	.	7.2873	0.26346	0.3585:0.2286:0.413:0.0	.	608	Q32M78	ZN699_HUMAN	I	608	ENSP00000311596:S608I	ENSP00000311596:S608I	S	-	2	0	ZNF699	9267257	0.000000	0.05858	0.006000	0.13384	0.974000	0.67602	-0.665000	0.05286	-0.241000	0.09681	0.555000	0.69702	AGC		0.443	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		82	331	1	0	2.13431e-38	1	2.57195e-38	82	331				
GOLGA8I	283796	broad.mit.edu	37	15	23261073	23261073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23261073G>A	ENST00000450802.3	+	10	846	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	RN7SL495P_ENST00000461817.2_RNA	NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1	A6NC78	GOG8I_HUMAN	golgin A8 family, member I	250						Golgi apparatus (GO:0005794)|membrane (GO:0016020)											AGGAGAGAGGGCCCGGTGGCA	0.478																																						ENST00000450802.3																			0											c.(748-750)Gcc>Acc																																						SO:0001583	missense	0							g.chr15:23261073G>A	AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561			26660	other	unknown	"""FLJ35785"""		"""golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene"""	GOLGA9P, GOLGA8IP			Standard	NR_024074		Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.748G>A	15.37:g.23261073G>A	ENSP00000399637:p.Ala250Thr						p.A250T							10	846	+									Missense_Mutation	SNP	ENST00000450802.3	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	.	9.900	1.206630	0.22205	.	.	ENSG00000153666	ENST00000450802	T	0.25250	1.81	0.83	0.83	0.18854	.	.	.	.	.	T	0.31734	0.0806	.	.	.	.	.	.	P	0.44260	0.83	P	0.54590	0.756	T	0.36359	-0.9751	7	0.38643	T	0.18	.	5.1257	0.14884	0.0:0.0:1.0:0.0	.	169	Q8NA68	.	T	250	ENSP00000399637:A250T	ENSP00000399637:A250T	A	+	1	0	GOLGA8IP	20812514	0.000000	0.05858	0.008000	0.14137	0.232000	0.25224	0.192000	0.17096	0.775000	0.33450	0.064000	0.15345	GCC		0.478	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251213.2	NR_024074		111	529	0	0	0	1	0	111	529				
RYR3	6263	broad.mit.edu	37	15	34078040	34078040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34078040G>T	ENST00000389232.4	+	66	9516	c.9446G>T	c.(9445-9447)gGt>gTt	p.G3149V	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGAGCGGGGTCCTGAGAAC	0.572																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9445-9447)gGt>gTt		ryanodine receptor 3							151.0	169.0	163.0					15																	34078040		2159	4268	6427	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078040G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9446G>T	15.37:g.34078040G>T	ENSP00000373884:p.Gly3149Val					RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	p.G3149V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9516	+		all_lung(180;7.18e-09)	3149					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9446G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928608	0.92389	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.64991	-0.13;-0.13	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.85902	0.1435	10	0.87932	D	0	.	19.1279	0.93393	0.0:0.0:1.0:0.0	.	3149;3149	Q15413-2;Q15413	.;RYR3_HUMAN	V	3149	ENSP00000373884:G3149V;ENSP00000399610:G3149V	ENSP00000354735:G3149V	G	+	2	0	RYR3	31865332	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	9.601000	0.98297	2.824000	0.97209	0.655000	0.94253	GGT		0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			166	787	1	0	1.56208e-101	1	2.00941e-101	166	787				
LTBP4	8425	broad.mit.edu	37	19	41125325	41125325	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41125325C>A	ENST00000308370.7	+	26	3342	c.3342C>A	c.(3340-3342)ctC>ctA	p.L1114L	LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000396819.3_Silent_p.L1047L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1115	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCTTCCTCTGTGTCTGCC	0.522																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3340-3342)ctC>ctA		latent transforming growth factor beta binding protein 4							115.0	116.0	116.0					19																	41125325		1989	4174	6163	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41125325C>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3342C>A	19.37:g.41125325C>A						LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.L1047L	p.L1114L	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3342	+			1115			Cys-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3342C>A																																																																																					0.522	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		53	366	1	0	1.21353e-23	1	1.38083e-23	53	366				
IGF2BP1	10642	broad.mit.edu	37	17	47126761	47126761	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47126761G>T	ENST00000290341.3	+	15	2023	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H|AC105030.1_ENST00000578722.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	563	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTAAGCAGCAGCATCAGAAGG	0.577																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1687-1689)caG>caT		insulin-like growth factor 2 mRNA binding protein 1							128.0	93.0	105.0					17																	47126761		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47126761G>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1689G>T	17.37:g.47126761G>T	ENSP00000290341:p.Gln563His					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H	p.Q563H	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			15	2023	+			563			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1689G>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127641	0.20959	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33654	2.14;1.4	5.0	4.03	0.46877	.	0.139400	0.49916	D	0.000134	T	0.30417	0.0764	L	0.47716	1.5	0.48511	D	0.999665	P;B	0.46277	0.875;0.005	B;B	0.41510	0.359;0.009	T	0.04153	-1.0973	10	0.26408	T	0.33	-15.2867	10.7342	0.46115	0.0899:0.0:0.9101:0.0	.	424;563	C9JT33;Q9NZI8	.;IF2B1_HUMAN	H	563;424	ENSP00000290341:Q563H;ENSP00000389135:Q424H	ENSP00000290341:Q563H	Q	+	3	2	IGF2BP1	44481760	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.254000	0.43214	1.451000	0.47736	0.563000	0.77884	CAG		0.577	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		14	145	1	0	1.5739e-10	1	1.67034e-10	14	145				
MTMR4	9110	broad.mit.edu	37	17	56584573	56584573	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56584573G>T	ENST00000323456.5	-	9	897	c.773C>A	c.(772-774)gCc>gAc	p.A258D	MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	258	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGCACAGGCTTTAGCAAT	0.617																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(772-774)gCc>gAc		myotubularin related protein 4							60.0	58.0	59.0					17																	56584573		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56584573G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.773C>A	17.37:g.56584573G>T	ENSP00000325285:p.Ala258Asp					MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	p.A258D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			9	897	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		258			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.773C>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482580	0.96307	.	.	ENSG00000108389	ENST00000323456	D	0.91068	-2.78	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.113387	0.64402	D	0.000011	D	0.96460	0.8845	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97001	0.9729	10	0.87932	D	0	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	258	Q9NYA4	MTMR4_HUMAN	D	258	ENSP00000325285:A258D	ENSP00000325285:A258D	A	-	2	0	MTMR4	53939572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.713000	0.92767	0.644000	0.83932	GCC		0.617	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		70	316	1	0	3.07281e-33	1	3.63882e-33	70	316				
DLK2	65989	broad.mit.edu	37	6	43418966	43418966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43418966C>T	ENST00000357338.3	-	6	1163	c.463G>A	c.(463-465)Gct>Act	p.A155T	DLK2_ENST00000372488.3_Missense_Mutation_p.A155T|DLK2_ENST00000372485.1_Missense_Mutation_p.A149T|DLK2_ENST00000414245.1_Missense_Mutation_p.A149T	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	155	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGTTGAGAGCAAAGCCCTGG	0.592																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(463-465)Gct>Act		delta-like 2 homolog (Drosophila)							76.0	50.0	59.0					6																	43418966		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418966C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.463G>A	6.37:g.43418966C>T	ENSP00000349893:p.Ala155Thr					DLK2_ENST00000372485.1_Missense_Mutation_p.A149T|DLK2_ENST00000414245.1_Missense_Mutation_p.A149T|DLK2_ENST00000372488.3_Missense_Mutation_p.A155T	p.A155T	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1163	-	all_lung(25;0.00536)		155			EGF-like 4.		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.463G>A	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010763	0.93346	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.51	4.51	0.55191	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.37800	1.135	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	D	0.88787	0.3275	10	0.49607	T	0.09	.	17.7506	0.88432	0.0:1.0:0.0:0.0	.	155	Q6UY11	DLK2_HUMAN	T	149;155;155;149	ENSP00000361563:A149T;ENSP00000361566:A155T;ENSP00000349893:A155T;ENSP00000398906:A149T	ENSP00000349893:A155T	A	-	1	0	DLK2	43526944	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.355000	0.79434	2.507000	0.84556	0.455000	0.32223	GCT		0.592	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		7	185	0	0	0	1	0	7	185				
CHRNA10	57053	broad.mit.edu	37	11	3688708	3688708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688708C>T	ENST00000250699.2	-	4	720	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Silent_p.T34T	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	217					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GAGCAGCAGCCGTAGGTGAGC	0.731																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(649-651)Ggc>Agc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						11.0	14.0	13.0					11																	3688708		2136	4186	6322	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688708C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.649G>A	11.37:g.3688708C>T	ENSP00000250699:p.Gly217Ser					CHRNA10_ENST00000534359.1_Silent_p.T34T	p.G217S	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	720	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	217						Missense_Mutation	SNP	ENST00000250699.2	37	c.649G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216189	0.79352	.	.	ENSG00000129749	ENST00000250699	T	0.80393	-1.37	5.22	5.22	0.72569	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.56097	D	0.000025	T	0.81192	0.4771	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75238	-0.3388	10	0.07990	T	0.79	.	17.3358	0.87280	0.0:1.0:0.0:0.0	.	217	Q9GZZ6	ACH10_HUMAN	S	217	ENSP00000250699:G217S	ENSP00000250699:G217S	G	-	1	0	CHRNA10	3645284	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.991000	0.70602	2.433000	0.82419	0.561000	0.74099	GGC		0.731	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			23	116	0	0	0	1	0	23	116				
C2CD3	26005	broad.mit.edu	37	11	73768505	73768505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73768505G>T	ENST00000334126.7	-	25	5262	c.5036C>A	c.(5035-5037)aCc>aAc	p.T1679N	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1679N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1679	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACCACTTGGGTGTATACAGG	0.443																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(5035-5037)aCc>aAc		C2 calcium-dependent domain containing 3							120.0	118.0	118.0					11																	73768505		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73768505G>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5036C>A	11.37:g.73768505G>T	ENSP00000334379:p.Thr1679Asn					C2CD3_ENST00000313663.7_Missense_Mutation_p.T1679N	p.T1679N			Q4AC94	C2CD3_HUMAN			25	5262	-	Breast(11;4.16e-06)		1679			C2 2.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5036C>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.364919	0.82463	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.74632	-0.86;-0.86;-0.86	5.03	5.03	0.67393	.	0.050138	0.85682	D	0.000000	D	0.82365	0.5021	M	0.63843	1.955	0.46131	D	0.998889	P	0.52463	0.953	P	0.56434	0.798	D	0.84574	0.0657	10	0.87932	D	0	-9.0877	18.3221	0.90242	0.0:0.0:1.0:0.0	.	1679	Q4AC94-1	.	N	1679;1679;1660;487	ENSP00000334379:T1679N;ENSP00000323339:T1679N;ENSP00000388750:T487N	ENSP00000323339:T1679N	T	-	2	0	C2CD3	73446153	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	8.053000	0.89449	2.505000	0.84491	0.650000	0.86243	ACC		0.443	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		98	481	1	0	1.54295e-31	1	1.81717e-31	98	481				
TEKT3	64518	broad.mit.edu	37	17	15212016	15212016	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15212016C>T	ENST00000395930.1	-	8	1407	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000462175.1_5'Flank|TEKT3_ENST00000338696.2_Silent_p.P407P	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	407					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACTCAATGTTCGGCCGTCTTG	0.577																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(1219-1221)ccG>ccA		tektin 3							180.0	140.0	153.0					17																	15212016		2203	4300	6503	SO:0001819	synonymous_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15212016C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1221G>A	17.37:g.15212016C>T						TEKT3_ENST00000338696.2_Silent_p.P407P	p.P407P	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	8	1407	-			407					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	c.1221G>A	CCDS11169.1																																																																																				0.577	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		100	432	0	0	0	1	0	100	432				
DENND1C	79958	broad.mit.edu	37	19	6467822	6467822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6467822G>A	ENST00000381480.2	-	23	2211	c.2099C>T	c.(2098-2100)aCt>aTt	p.T700I	DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	700					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCCAGGGAGTGGGGTTTTC	0.582																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(2098-2100)aCt>aTt		DENN/MADD domain containing 1C							23.0	24.0	24.0					19																	6467822		1886	4105	5991	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6467822G>A	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2099C>T	19.37:g.6467822G>A	ENSP00000370889:p.Thr700Ile					DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	p.T700I	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			23	2211	-			700					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.2099C>T	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313910	0.23908	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.09911	3.1;2.93	4.47	-1.97	0.07503	.	2.337440	0.02089	N	0.053003	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31861	-0.9928	10	0.21014	T	0.42	0.0155	1.2983	0.02074	0.1571:0.2981:0.3339:0.2108	.	700	Q8IV53	DEN1C_HUMAN	I	700;656	ENSP00000370889:T700I;ENSP00000437805:T656I	ENSP00000370889:T700I	T	-	2	0	DENND1C	6418822	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.095000	0.11077	0.112000	0.17975	0.298000	0.19748	ACT		0.582	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		32	76	0	0	0	1	0	32	76				
ABCA5	23461	broad.mit.edu	37	17	67309352	67309352	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67309352T>G	ENST00000392676.3	-	3	252	c.188A>C	c.(187-189)aAt>aCt	p.N63T	ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T|ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	63					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GAGTTCTATATTAGGCACTTC	0.289																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(187-189)aAt>aCt		ATP-binding cassette, sub-family A (ABC1), member 5							83.0	87.0	86.0					17																	67309352		2202	4297	6499	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309352T>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.188A>C	17.37:g.67309352T>G	ENSP00000376443:p.Asn63Thr					ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T|ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T	p.N63T			Q8WWZ7	ABCA5_HUMAN			3	252	-	Breast(10;3.72e-11)		63					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.188A>C	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	0.302	-0.973050	0.02215	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87571	-2.27;-2.27	5.0	5.0	0.66597	.	0.185380	0.37715	N	0.001965	T	0.74253	0.3692	N	0.08118	0	0.27216	N	0.959792	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.58999	-0.7536	9	.	.	.	.	14.367	0.66812	0.0:0.0:0.0:1.0	.	63;63	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	63	ENSP00000376444:N63T;ENSP00000376443:N63T	.	N	-	2	0	ABCA5	64820947	0.995000	0.38212	0.826000	0.32828	0.580000	0.36256	3.619000	0.54196	1.879000	0.54435	0.477000	0.44152	AAT		0.289	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		48	166	0	0	0	1	0	48	166				
RHOT2	89941	broad.mit.edu	37	16	718508	718508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:718508G>T	ENST00000315082.4	+	3	231	c.117G>T	c.(115-117)gaG>gaT	p.E39D	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	39	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCGCGGAGGAGATCACCATCC	0.761																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(115-117)gaG>gaT		ras homolog family member T2							16.0	20.0	19.0					16																	718508		2111	4220	6331	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:718508G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.117G>T	16.37:g.718508G>T	ENSP00000321971:p.Glu39Asp					RHOT2_ENST00000569943.2_3'UTR	p.E39D	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			3	231	+		Hepatocellular(780;0.0218)	39			Miro 1.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.117G>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095509	0.36952	.	.	ENSG00000140983	ENST00000315082	T	0.77229	-1.08	3.91	3.91	0.45181	MIRO (1);	0.000000	0.85682	U	0.000000	D	0.82637	0.5080	M	0.63428	1.95	0.49130	D	0.999752	D	0.63880	0.993	P	0.61940	0.896	D	0.83593	0.0124	10	0.72032	D	0.01	-9.6593	8.9251	0.35634	0.1049:0.0:0.8951:0.0	.	39	Q8IXI1	MIRO2_HUMAN	D	39	ENSP00000321971:E39D	ENSP00000321971:E39D	E	+	3	2	RHOT2	658509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.973000	0.56845	1.744000	0.51775	0.306000	0.20318	GAG		0.761	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		46	194	1	0	6.88607e-10	1	7.27523e-10	46	194				
FAM120C	54954	broad.mit.edu	37	X	54185844	54185844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54185844C>T	ENST00000375180.2	-	2	961	c.905G>A	c.(904-906)gGc>gAc	p.G302D	FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	302							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTCTTCAGGCCCAGCTGCTT	0.468																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(904-906)gGc>gAc		family with sequence similarity 120C							106.0	85.0	92.0					X																	54185844		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54185844C>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.905G>A	X.37:g.54185844C>T	ENSP00000364324:p.Gly302Asp					FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	p.G302D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			2	961	-			302					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.905G>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.627179	0.28978	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.40476	1.03;1.03	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	N	0.20986	0.625	0.80722	D	1	B;B	0.31879	0.159;0.344	B;B	0.36666	0.23;0.217	T	0.11743	-1.0575	10	0.25751	T	0.34	-5.9882	16.37	0.83353	0.0:1.0:0.0:0.0	.	302;302	F8W881;Q9NX05	.;F120C_HUMAN	D	302	ENSP00000364324:G302D;ENSP00000329896:G302D	ENSP00000329896:G302D	G	-	2	0	FAM120C	54202569	0.852000	0.29690	0.995000	0.50966	0.831000	0.47069	1.193000	0.32162	2.118000	0.64928	0.502000	0.49764	GGC		0.468	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		66	229	0	0	0	1	0	66	229				
TIAM1	7074	broad.mit.edu	37	21	32492816	32492816	+	Missense_Mutation	SNP	C	C	T	rs143032407	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32492816C>T	ENST00000286827.3	-	29	5117	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1549					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGTGCCATGCGGGACGCGTG	0.597																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4645-4647)cGc>cAc		T-cell lymphoma invasion and metastasis 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	80.0	72.0	75.0		4646	4.9	1.0	21	dbSNP_134	75	0,8600		0,0,4300	yes	missense	TIAM1	NM_003253.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1549/1592	32492816	2,13004	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32492816C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4646G>A	21.37:g.32492816C>T	ENSP00000286827:p.Arg1549His					TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	p.R1549H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	5117	-			1549					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4646G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310077	0.81247	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.45276	0.9;0.92	4.95	4.95	0.65309	.	0.078275	0.46442	D	0.000294	T	0.51193	0.1660	L	0.47716	1.5	0.42271	D	0.992052	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.57165	-0.7858	10	0.87932	D	0	.	18.2147	0.89881	0.0:1.0:0.0:0.0	.	1489;1549	F5GZ53;Q13009	.;TIAM1_HUMAN	H	1549;1489	ENSP00000286827:R1549H;ENSP00000441570:R1489H	ENSP00000286827:R1549H	R	-	2	0	TIAM1	31414687	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.771000	0.47670	2.294000	0.77228	0.655000	0.94253	CGC		0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		72	263	0	0	0	1	0	72	263				
DDX10	1662	broad.mit.edu	37	11	108586668	108586668	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108586668A>C	ENST00000322536.3	+	11	1514	c.1385A>C	c.(1384-1386)cAa>cCa	p.Q462P	DDX10_ENST00000526794.1_Missense_Mutation_p.Q462P	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	462					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCTCAAGATCAAGATTTAAAA	0.289			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1384-1386)cAa>cCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							31.0	32.0	32.0					11																	108586668		2199	4291	6490	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108586668A>C	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1385A>C	11.37:g.108586668A>C	ENSP00000314348:p.Gln462Pro					DDX10_ENST00000322536.3_Missense_Mutation_p.Q462P	p.Q462P			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	11	1417	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	462					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.1385A>C	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779047	0.31502	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.38887	1.12;1.11	6.04	2.42	0.29668	.	0.215941	0.48767	D	0.000166	T	0.17662	0.0424	N	0.03071	-0.42	0.44539	D	0.997495	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.04961	-1.0915	10	0.23891	T	0.37	-2.9721	9.8661	0.41145	0.8031:0.0:0.1969:0.0	.	462;462	Q13206;E9PIF2	DDX10_HUMAN;.	P	462;368;462	ENSP00000314348:Q462P;ENSP00000432032:Q462P	ENSP00000314348:Q462P	Q	+	2	0	DDX10	108091878	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.048000	0.49862	0.162000	0.19483	0.528000	0.53228	CAA		0.289	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		18	76	0	0	0	1	0	18	76				
IRX2	153572	broad.mit.edu	37	5	2748989	2748989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2748989G>A	ENST00000382611.6	-	3	1081	c.833C>T	c.(832-834)gCg>gTg	p.A278V	IRX2_ENST00000302057.5_Missense_Mutation_p.A278V|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	278					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTGGGCGGCGCCAGGCCCCG	0.746																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(832-834)gCg>gTg		iroquois homeobox 2							10.0	11.0	11.0					5																	2748989		2159	4215	6374	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748989G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.833C>T	5.37:g.2748989G>A	ENSP00000372056:p.Ala278Val					IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A278V	p.A278V	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1081	-			278					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.833C>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	4.767	0.142597	0.09083	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.65178	-0.14;-0.14;-0.07	4.51	-1.28	0.09318	.	0.598049	0.18305	N	0.145282	T	0.34600	0.0903	N	0.12182	0.205	0.27280	N	0.95812	B	0.02656	0.0	B	0.04013	0.001	T	0.14671	-1.0464	10	0.21014	T	0.42	-4.7565	6.5074	0.22202	0.2142:0.2378:0.548:0.0	.	278	Q9BZI1	IRX2_HUMAN	V	278;278;185	ENSP00000372056:A278V;ENSP00000307006:A278V;ENSP00000426151:A185V	ENSP00000307006:A278V	A	-	2	0	IRX2	2801989	0.484000	0.25964	0.614000	0.29051	0.660000	0.38997	0.406000	0.21032	-0.164000	0.10927	-0.244000	0.11960	GCG		0.746	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			24	109	0	0	0	1	0	24	109				
FMN1	342184	broad.mit.edu	37	15	33261663	33261663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261663G>A	ENST00000559047.1	-	5	2238	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	FMN1_ENST00000561249.1_Missense_Mutation_p.R649W|FMN1_ENST00000334528.9_Missense_Mutation_p.R524W|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	747	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGAAATGCCCGAAGTTCAAAC	0.398																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1570-1572)Cgg>Tgg		formin 1							72.0	68.0	69.0					15																	33261663		1843	4087	5930	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261663G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2239C>T	15.37:g.33261663G>A	ENSP00000454047:p.Arg747Trp					FMN1_ENST00000559047.1_Missense_Mutation_p.R747W|FMN1_ENST00000561249.1_Missense_Mutation_p.R649W	p.R524W	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1569	-		all_lung(180;1.14e-07)	747			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1570C>T		.	.	.	.	.	.	.	.	.	.	G	11.70	1.718269	0.30503	.	.	ENSG00000248905	ENST00000334528	T	0.42513	0.97	4.9	0.279	0.15677	.	0.912362	0.09346	N	0.814886	T	0.38639	0.1048	L	0.43152	1.355	.	.	.	D	0.65815	0.995	P	0.46825	0.528	T	0.46952	-0.9154	9	0.87932	D	0	.	7.7095	0.28669	0.0:0.1784:0.3879:0.4336	.	524	Q68DA7-5	.	W	524	ENSP00000333950:R524W	ENSP00000333950:R524W	R	-	1	2	FMN1	31048955	0.000000	0.05858	0.655000	0.29622	0.884000	0.51177	0.100000	0.15231	-0.082000	0.12640	0.555000	0.69702	CGG		0.398	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		24	476	0	0	0	1	0	24	476				
MCM6	4175	broad.mit.edu	37	2	136602132	136602132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602132G>A	ENST00000264156.2	-	16	2392	c.2332C>T	c.(2332-2334)Cat>Tat	p.H778Y	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	778					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GTGAGTCGATGAATAACTTTC	0.418																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(2332-2334)Cat>Tat		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						135.0	127.0	130.0					2																	136602132		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136602132G>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2332C>T	2.37:g.136602132G>A	ENSP00000264156:p.His778Tyr						p.H778Y	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	16	2392	-			778					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.2332C>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416079	0.42817	.	.	ENSG00000076003	ENST00000264156	T	0.03124	4.04	5.74	3.76	0.43208	.	0.417665	0.30227	N	0.010116	T	0.04092	0.0114	L	0.32530	0.975	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.39461	-0.9613	10	0.56958	D	0.05	-2.0985	12.1062	0.53813	0.1072:0.0:0.8928:0.0	.	778	Q14566	MCM6_HUMAN	Y	778	ENSP00000264156:H778Y	ENSP00000264156:H778Y	H	-	1	0	MCM6	136318602	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.682000	0.61671	0.622000	0.30249	0.650000	0.86243	CAT		0.418	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		95	235	0	0	0	1	0	95	235				
ENOSF1	55556	broad.mit.edu	37	18	706481	706481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:706481C>T	ENST00000251101.7	-	2	270	c.182G>A	c.(181-183)gGc>gAc	p.G61D	RP11-806L2.6_ENST00000580007.1_RNA|ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A18T|ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	61					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						AACTTCAGTGCCTTTTCCCAG	0.418																																						ENST00000383578.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(52-54)Gca>Aca		enolase superfamily member 1							146.0	122.0	130.0					18																	706481		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:706481C>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.182G>A	18.37:g.706481C>T	ENSP00000251101:p.Gly61Asp					ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000251101.7_Missense_Mutation_p.G61D|ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D	p.A18T	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN			2	256	-			0					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.52G>A	CCDS11822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.120108|2.120108	0.37436|0.37436	.|.	.|.	ENSG00000132199|ENSG00000132199	ENST00000383578|ENST00000251101;ENST00000340116;ENST00000539164	T|T;T;T	0.30182|0.46063	1.54|0.88;0.88;0.88	5.56|5.56	4.69|4.69	0.59074|0.59074	.|Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	.|0.049387	.|0.85682	.|N	.|0.000000	T|T	0.64000|0.64000	0.2559|0.2559	.|.	.|.	.|.	0.43708|0.43708	D|D	0.996177|0.996177	B|D;D;D	0.14805|0.76494	0.011|0.999;0.997;0.998	B|D;D;D	0.11329|0.72338	0.006|0.977;0.962;0.957	T|T	0.68800|0.68800	-0.5313|-0.5313	8|9	0.62326|0.87932	D|D	0.03|0	.|.	12.9562|12.9562	0.58430|0.58430	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	18|82;106;61	Q7L5Y1-2|A6NMP3;Q6ZS08;Q7L5Y1	.|.;.;ENOF1_HUMAN	T|D	18|61;82;61	ENSP00000373072:A18T|ENSP00000251101:G61D;ENSP00000345974:G82D;ENSP00000446321:G61D	ENSP00000373072:A18T|ENSP00000251101:G61D	A|G	-|-	1|2	0|0	ENOSF1|ENOSF1	696481|696481	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	4.071000|4.071000	0.57556|0.57556	1.344000|1.344000	0.45657|0.45657	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.418	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		80	395	0	0	0	1	0	80	395				
UHMK1	127933	broad.mit.edu	37	1	162467986	162467986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162467986G>A	ENST00000489294.1	+	1	354	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGGGCTGCGGCCTCTGCCGC	0.642																																						ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(196-198)Gcc>Acc		U2AF homology motif (UHM) kinase 1							16.0	18.0	17.0					1																	162467986		2202	4300	6502	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162467986G>A	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.196G>A	1.37:g.162467986G>A	ENSP00000420270:p.Ala66Thr					UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000545294.1_Intron	p.A66T	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	354	+	all_hematologic(112;0.115)		66			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.196G>A	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983902	0.53827	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.65732	-0.17;-0.17	4.94	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177523	0.50627	D	0.000113	T	0.34019	0.0883	L	0.41079	1.255	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	9	0.41790	T	0.15	-7.9138	10.5334	0.44990	0.0:0.0:0.8071:0.1929	.	66;66	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	T	66	ENSP00000446416:A66T;ENSP00000420270:A66T	ENSP00000420270:A66T	A	+	1	0	UHMK1	160734610	.	.	0.596000	0.28811	0.984000	0.73092	.	.	1.368000	0.46115	0.655000	0.94253	GCC		0.642	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		53	151	0	0	0	1	0	53	151				
OR9K2	441639	broad.mit.edu	37	12	55524378	55524378	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55524378C>T	ENST00000305377.5	+	1	914	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGAGTGTGCTGTATGGTGC	0.438																																						ENST00000305377.5																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(826-828)Ctg>Ttg		olfactory receptor, family 9, subfamily K, member 2							197.0	175.0	183.0					12																	55524378		2203	4300	6503	SO:0001819	synonymous_variant	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524378C>T	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.826C>T	12.37:g.55524378C>T							p.L276L	NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN			1	914	+			276					B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	37	c.826C>T	CCDS31814.1																																																																																				0.438	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			132	521	0	0	0	1	0	132	521				
AADACL3	126767	broad.mit.edu	37	1	12780892	12780892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12780892C>A	ENST00000359318.5	+	3	427	c.222C>A	c.(220-222)caC>caA	p.H74Q	AADACL3_ENST00000332530.3_Missense_Mutation_p.H4Q	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	74							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAAACCCACCATGGCATAT	0.507																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(10-12)caC>caA		arylacetamide deacetylase-like 3							108.0	110.0	109.0					1																	12780892		1898	4124	6022	SO:0001583	missense	126767						hydrolase activity	g.chr1:12780892C>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.222C>A	1.37:g.12780892C>A	ENSP00000352268:p.His74Gln					AADACL3_ENST00000359318.5_Missense_Mutation_p.H74Q	p.H4Q	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	238	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	74					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.12C>A	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769079	0.49680	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10382	2.88;2.88	5.23	2.27	0.28462	Alpha/beta hydrolase fold-3 (1);	0.855661	0.10581	N	0.657924	T	0.34919	0.0914	M	0.90814	3.15	0.09310	N	1	B;D	0.62365	0.04;0.991	B;D	0.64506	0.062;0.926	T	0.09357	-1.0678	10	0.66056	D	0.02	-0.5016	7.4747	0.27369	0.0:0.5493:0.0:0.4507	.	74;4	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	Q	4;74	ENSP00000333352:H4Q;ENSP00000352268:H74Q	ENSP00000333352:H4Q	H	+	3	2	AADACL3	12703479	0.001000	0.12720	0.002000	0.10522	0.976000	0.68499	0.092000	0.15066	0.196000	0.20367	0.491000	0.48974	CAC		0.507	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		84	386	1	0	2.5963e-48	1	3.20365e-48	84	386				
LY6H	4062	broad.mit.edu	37	8	144240263	144240263	+	Silent	SNP	G	G	A	rs372749060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144240263G>A	ENST00000430474.2	-	3	309	c.144C>T	c.(142-144)tcC>tcT	p.S48S	LY6H_ENST00000414417.2_Silent_p.S69S|LY6H_ENST00000342752.4_Silent_p.S69S	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	48	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACACCGTGTCGGACGGCTGGC	0.612																																						ENST00000414417.2																			0				endometrium(1)|lung(1)|stomach(2)	4						c.(205-207)tcC>tcT		lymphocyte antigen 6 complex, locus H		G	,,	0,4406		0,0,2203	151.0	118.0	129.0		207,207,144	-7.1	0.0	8		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6H	NM_001130478.1,NM_001135655.1,NM_002347.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	69/162,69/162,48/141	144240263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4062				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane		g.chr8:144240263G>A	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.144C>T	8.37:g.144240263G>A						LY6H_ENST00000342752.4_Silent_p.S69S|LY6H_ENST00000430474.2_Silent_p.S48S	p.S69S	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN			4	440	-	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		48			UPAR/Ly6.		B2RAD2|J3KQI0|Q6IAX0	Silent	SNP	ENST00000430474.2	37	c.207C>T	CCDS6396.1																																																																																				0.612	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			66	384	0	0	0	1	0	66	384				
NAV2	89797	broad.mit.edu	37	11	19901485	19901485	+	Missense_Mutation	SNP	G	G	T	rs376881740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901485G>T	ENST00000396087.3	+	5	681	c.582G>T	c.(580-582)caG>caT	p.Q194H	NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q194H|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	194	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						agcagcagcagcagcagcccc	0.607																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(580-582)caG>caT		neuron navigator 2							51.0	57.0	55.0					11																	19901485		2198	4293	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19901485G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.582G>T	11.37:g.19901485G>T	ENSP00000379396:p.Gln194His					NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q194H|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H	p.Q194H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	943	+			194			Gln-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.582G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555291	0.86231	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.93	3.04	0.35103	.	0.000000	0.53938	D	0.000048	T	0.56366	0.1980	N	0.22421	0.69	0.80722	D	1	D;P	0.63046	0.992;0.939	P;P	0.61658	0.892;0.687	T	0.51826	-0.8656	9	.	.	.	.	11.3753	0.49724	0.2009:0.0:0.7991:0.0	.	194;130	Q8IVL1-3;Q8IVL1-4	.;.	H	130;194;194;194;123;125	ENSP00000353871:Q130H;ENSP00000379394:Q194H;ENSP00000309577:Q194H;ENSP00000379396:Q194H;ENSP00000435395:Q123H;ENSP00000443489:Q125H	.	Q	+	3	2	NAV2	19858061	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.306000	0.33505	0.847000	0.35167	0.561000	0.74099	CAG		0.607	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		98	406	1	0	9.24773e-40	1	1.11906e-39	98	406				
ATP2B2	491	broad.mit.edu	37	3	10401761	10401761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10401761G>A	ENST00000352432.4	-	12	1775	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.T524M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	569					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCGCACTCCGTCTTGTTGCC	0.647																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1570-1572)aCg>aTg		ATPase, Ca++ transporting, plasma membrane 2							56.0	50.0	52.0					3																	10401761		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10401761G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1706C>T	3.37:g.10401761G>A	ENSP00000324172:p.Thr569Met					ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T569M	p.T524M			Q01814	AT2B2_HUMAN			12	2146	-			569					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1571C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897289	0.91962	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.93	4.93	0.64822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90614	0.4554	10	0.87932	D	0	-23.7022	18.1486	0.89667	0.0:0.0:1.0:0.0	.	504;536;569	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	569;524;524;569;555;504;425;569	ENSP00000324172:T569M;ENSP00000373311:T524M;ENSP00000380267:T524M;ENSP00000353414:T569M;ENSP00000344677:T555M;ENSP00000414854:T425M	ENSP00000342954:T569M	T	-	2	0	ATP2B2	10376761	1.000000	0.71417	0.955000	0.39395	0.995000	0.86356	9.860000	0.99555	2.272000	0.75746	0.591000	0.81541	ACG		0.647	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		80	343	0	0	0	1	0	80	343				
APC	324	broad.mit.edu	37	5	112176129	112176129	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112176129C>A	ENST00000457016.1	+	16	5218	c.4838C>A	c.(4837-4839)cCt>cAt	p.P1613H	APC_ENST00000257430.4_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P1613H			P25054	APC_HUMAN	adenomatous polyposis coli	1613	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTCAGCTGCCTGTGTACAAA	0.463		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4837-4839)cCt>cAt		adenomatous polyposis coli							130.0	134.0	132.0					5																	112176129		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176129C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4838C>A	5.37:g.112176129C>A	ENSP00000413133:p.Pro1613His	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.P1613H|APC_ENST00000508376.2_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron	p.P1613H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5218	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1613			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4838C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117024	0.77323	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95853	-3.83;-3.83;-3.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94606	0.7800	9	.	.	.	-19.7075	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1615;1613	Q4LE70;P25054	.;APC_HUMAN	H	1613	ENSP00000413133:P1613H;ENSP00000257430:P1613H;ENSP00000427089:P1613H	.	P	+	2	0	APC	112204028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCT		0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		99	838	1	0	5.86298e-51	1	7.2719e-51	99	838				
USP32	84669	broad.mit.edu	37	17	58262867	58262867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58262867C>T	ENST00000300896.4	-	30	3982	c.3788G>A	c.(3787-3789)tGc>tAc	p.C1263Y	USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1263	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGTTGCTAAGCAGTGGGTCTT	0.502																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3787-3789)tGc>tAc		ubiquitin specific peptidase 32							111.0	105.0	107.0					17																	58262867		2203	4297	6500	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58262867C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3788G>A	17.37:g.58262867C>T	ENSP00000300896:p.Cys1263Tyr					USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	p.C1263Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		30	3982	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1263					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3788G>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770304	0.90108	.	.	ENSG00000170832	ENST00000300896	T	0.28666	1.6	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.043342	0.85682	D	0.000000	T	0.38268	0.1034	L	0.43152	1.355	0.80722	D	1	D	0.56287	0.975	P	0.48334	0.574	T	0.12941	-1.0528	10	0.59425	D	0.04	.	19.6082	0.95588	0.0:1.0:0.0:0.0	.	1263	Q8NFA0	UBP32_HUMAN	Y	1263	ENSP00000300896:C1263Y	ENSP00000300896:C1263Y	C	-	2	0	USP32	55617649	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.786000	0.85741	2.637000	0.89404	0.650000	0.86243	TGC		0.502	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		89	445	0	0	0	1	0	89	445				
PCDH15	65217	broad.mit.edu	37	10	55600233	55600233	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600233T>G	ENST00000320301.6	-	29	4224	c.3830A>C	c.(3829-3831)gAa>gCa	p.E1277A	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1284A|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1277					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGAATTTGTTCCTGAACATA	0.428										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3850-3852)gAa>gCa		protocadherin-related 15							81.0	74.0	76.0					10																	55600233		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55600233T>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3830A>C	10.37:g.55600233T>G	ENSP00000322604:p.Glu1277Ala	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1277A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A	p.E1284A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			30	4245	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1277					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3851A>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414872	0.83449	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58358	0.41;0.46;0.4;0.4;0.36;0.37;0.34;0.4;0.35;0.35;0.35	5.43	5.43	0.79202	.	.	.	.	.	T	0.45895	0.1365	N	0.19112	0.55	0.43399	D	0.995528	P;P;P;P;P;P;P;B;P;P;P;P;P	0.49090	0.773;0.864;0.864;0.864;0.753;0.864;0.773;0.288;0.773;0.773;0.647;0.774;0.919	B;B;B;B;B;B;B;B;P;P;B;B;P	0.46389	0.257;0.345;0.345;0.345;0.345;0.345;0.257;0.242;0.515;0.515;0.345;0.345;0.496	T	0.51919	-0.8644	9	0.66056	D	0.02	.	15.4284	0.75072	0.0:0.0:0.0:1.0	.	1255;1277;1277;1282;1206;1240;1277;1277;1284;1284;1277;1282;1277	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	1284;1282;1277;1277;888;1284;1240;1277;1255;1277;1277;1282;1206	ENSP00000363076:E1284A;ENSP00000410304:E1282A;ENSP00000378826:E1277A;ENSP00000386693:E888A;ENSP00000378832:E1284A;ENSP00000378820:E1240A;ENSP00000354950:E1277A;ENSP00000378821:E1255A;ENSP00000322604:E1277A;ENSP00000378818:E1277A;ENSP00000412628:E1206A	ENSP00000322604:E1277A	E	-	2	0	PCDH15	55270239	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.986000	0.88173	2.182000	0.69389	0.472000	0.43445	GAA		0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		58	231	0	0	0	1	0	58	231				
RASEF	158158	broad.mit.edu	37	9	85637250	85637250	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85637250C>T	ENST00000376447.3	-	3	930		c.e3+1			NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGAAACTCACGTCTTTCCGT	0.502																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.e3+1		RAS and EF-hand domain containing							246.0	209.0	221.0					9																	85637250		2203	4300	6503	SO:0001630	splice_region_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85637250C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.669+1G>A	9.37:g.85637250C>T								NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			3	930	-								A6NC29|Q96N04	Splice_Site	SNP	ENST00000376447.3	37		CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246870	0.80024	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.88	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0808	0.72113	0.0:0.9322:0.0:0.0678	.	.	.	.	.	-1	.	.	.	-	.	.	RASEF	84827070	1.000000	0.71417	0.886000	0.34754	0.932000	0.56968	5.111000	0.64628	1.497000	0.48584	0.655000	0.94253	.		0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573	Intron	88	433	0	0	0	1	0	88	433				
PARD3B	117583	broad.mit.edu	37	2	206165326	206165326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206165326C>T	ENST00000406610.2	+	17	2465	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	753					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAGACTGCAGTGGCCGAG	0.532																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2257-2259)gCa>gTa		par-3 family cell polarity regulator beta							98.0	98.0	98.0					2																	206165326		1904	4134	6038	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206165326C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2258C>T	2.37:g.206165326C>T	ENSP00000385848:p.Ala753Val					PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000351153.1_Intron	p.A753V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	17	2465	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	753					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2258C>T		.	.	.	.	.	.	.	.	.	.	C	26.1	4.704456	0.88924	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.34472	1.36;1.36;1.36	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.62233	0.2411	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.59643	-0.7416	10	0.46703	T	0.11	.	19.9376	0.97146	0.0:1.0:0.0:0.0	.	753;691;753	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	V	753;691;753	ENSP00000385848:A753V;ENSP00000351618:A691V;ENSP00000340280:A753V	ENSP00000340280:A753V	A	+	2	0	PARD3B	205873571	1.000000	0.71417	0.182000	0.23118	0.772000	0.43724	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GCA		0.532	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		121	616	0	0	0	1	0	121	616				
IL17RC	84818	broad.mit.edu	37	3	9970068	9970068	+	Silent	SNP	G	G	A	rs200216570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9970068G>A	ENST00000295981.3	+	11	1388	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	IL17RC_ENST00000413608.1_Silent_p.P319P|IL17RC_ENST00000383812.4_Silent_p.P304P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000403601.3_Silent_p.P319P|IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	390					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGACGCACCGTGCTCGCTGC	0.682																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1168-1170)ccG>ccA		interleukin 17 receptor C		G	,,,,,	1,4405		0,1,2202	29.0	36.0	34.0		957,957,912,912,957,1170	-9.7	0.0	3		34	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	319/708,319/691,304/689,304/706,319/721,390/792	9970068	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9970068G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1170G>A	3.37:g.9970068G>A						IL17RC_ENST00000413608.1_Silent_p.P319P|IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000403601.3_Silent_p.P319P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.P304P	p.P390P	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			11	1388	+			390					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.1170G>A	CCDS2590.1																																																																																				0.682	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		106	434	0	0	0	1	0	106	434				
KIAA1462	57608	broad.mit.edu	37	10	30317361	30317361	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317361C>A	ENST00000375377.1	-	3	1817	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	572					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCATTTTTTTCTTTGAACTTT	0.423																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1714-1716)aaG>aaT		KIAA1462							94.0	95.0	95.0					10																	30317361		1839	4087	5926	SO:0001583	missense	57608							g.chr10:30317361C>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1716G>T	10.37:g.30317361C>A	ENSP00000364526:p.Lys572Asn						p.K572N	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	1817	-			572					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1716G>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967075	0.53507	.	.	ENSG00000165757	ENST00000375377	T	0.20881	2.04	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48305	-0.9047	10	0.87932	D	0	-43.2593	19.6415	0.95760	0.0:1.0:0.0:0.0	.	572	Q9P266	K1462_HUMAN	N	572	ENSP00000364526:K572N	ENSP00000364526:K572N	K	-	3	2	KIAA1462	30357367	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	3.329000	0.52060	2.651000	0.90000	0.561000	0.74099	AAG		0.423	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		20	715	1	0	3.51602e-12	1	3.76992e-12	20	715				
ARHGEF17	9828	broad.mit.edu	37	11	73074371	73074371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73074371G>A	ENST00000263674.3	+	15	5467	c.5117G>A	c.(5116-5118)aGc>aAc	p.S1706N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1706					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGGCACCAGCCCAATGGAT	0.667																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5116-5118)aGc>aAc		Rho guanine nucleotide exchange factor (GEF) 17							23.0	24.0	24.0					11																	73074371		2199	4293	6492	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73074371G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5117G>A	11.37:g.73074371G>A	ENSP00000263674:p.Ser1706Asn						p.S1706N	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			15	5467	+			1706					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5117G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763094	0.69763	.	.	ENSG00000110237	ENST00000263674	T	0.60424	0.19	5.24	5.24	0.73138	.	0.046414	0.85682	D	0.000000	T	0.46889	0.1416	L	0.27053	0.805	0.52099	D	0.99994	P	0.36599	0.56	B	0.33121	0.158	T	0.52624	-0.8551	10	0.59425	D	0.04	-21.2442	18.2437	0.89977	0.0:0.0:1.0:0.0	.	1706	Q96PE2	ARHGH_HUMAN	N	1706	ENSP00000263674:S1706N	ENSP00000263674:S1706N	S	+	2	0	ARHGEF17	72752019	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.895000	0.87343	2.626000	0.88956	0.650000	0.86243	AGC		0.667	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		33	138	0	0	0	1	0	33	138				
BEND6	221336	broad.mit.edu	37	6	56857269	56857269	+	Missense_Mutation	SNP	G	G	A	rs371013253	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56857269G>A	ENST00000370746.3	+	3	483	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	BEND6_ENST00000370745.1_Missense_Mutation_p.A72T|BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370748.3_Missense_Mutation_p.A72T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	72					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAATTGTGCGCCAAAATAAA	0.413													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15608	0.0		0.0	False		,,,				2504	0.0					ENST00000370748.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(214-216)Gcc>Acc		BEN domain containing 6		G	THR/ALA	2,3626		0,2,1812	128.0	131.0	130.0		214	-2.2	0.7	6		130	0,8156		0,0,4078	no	missense	BEND6	NM_152731.2	58	0,2,5890	AA,AG,GG		0.0,0.0551,0.017	benign	72/280	56857269	2,11782	1814	4078	5892	SO:0001583	missense	221336							g.chr6:56857269G>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.214G>A	6.37:g.56857269G>A	ENSP00000359782:p.Ala72Thr					BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370746.3_Missense_Mutation_p.A72T|BEND6_ENST00000370745.1_Missense_Mutation_p.A72T	p.A72T			Q5SZJ8	BEND6_HUMAN			3	649	+			72					Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.214G>A	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195656	0.22037	5.51E-4	0.0	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.04	-2.23	0.06930	.	0.684405	0.13848	N	0.358570	T	0.09818	0.0241	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40813	-0.9543	9	0.02654	T	1	0.3172	10.0363	0.42131	0.3402:0.0:0.6598:0.0	.	72	Q5SZJ8	BEND6_HUMAN	T	72	.	ENSP00000322773:A72T	A	+	1	0	BEND6	56965228	0.944000	0.32072	0.741000	0.31004	0.960000	0.62799	0.361000	0.20267	-0.276000	0.09206	-0.137000	0.14449	GCC		0.413	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		138	653	0	0	0	1	0	138	653				
EDRF1	26098	broad.mit.edu	37	10	127421991	127421991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127421991A>G	ENST00000356792.4	+	10	1379	c.1147A>G	c.(1147-1149)Aca>Gca	p.T383A	C10orf137_ENST00000337623.3_Missense_Mutation_p.T349A	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGATAAAGACAGAAGAAAT	0.279																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(1045-1047)Aca>Gca		chromosome 10 open reading frame 137							13.0	14.0	13.0					10																	127421991		2160	4243	6403	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127421991A>G																												ENST00000356792.4:c.1147A>G	10.37:g.127421991A>G	ENSP00000349244:p.Thr383Ala					C10orf137_ENST00000356792.4_Missense_Mutation_p.T383A	p.T349A	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			9	1150	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	383					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.1045A>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682974	0.88542	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.11712	2.75;2.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	M	0.82323	2.585	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.76071	0.981;0.987;0.971	T	0.19095	-1.0316	10	0.59425	D	0.04	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	383;349;383	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	A	383;383;349	ENSP00000349244:T383A;ENSP00000336727:T349A	ENSP00000336727:T349A	T	+	1	0	C10orf137	127411981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.896000	0.92521	2.326000	0.78906	0.533000	0.62120	ACA		0.279	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			10	41	0	0	0	1	0	10	41				
STAB2	55576	broad.mit.edu	37	12	104046365	104046365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104046365C>T	ENST00000388887.2	+	12	1493	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATAAAGCTGCTCAATACTTT	0.368																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1288-1290)gCt>gTt		stabilin 2							97.0	90.0	92.0					12																	104046365		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104046365C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1289C>T	12.37:g.104046365C>T	ENSP00000373539:p.Ala430Val						p.A430V	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			12	1493	+			430			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1289C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459332	0.63401	.	.	ENSG00000136011	ENST00000388887	D	0.90444	-2.67	5.82	5.82	0.92795	FAS1 domain (5);	0.063342	0.64402	D	0.000010	D	0.93504	0.7927	M	0.81682	2.555	0.45035	D	0.998059	P	0.49090	0.919	P	0.49421	0.61	D	0.93115	0.6520	10	0.48119	T	0.1	.	19.7095	0.96089	0.0:1.0:0.0:0.0	.	430	Q8WWQ8	STAB2_HUMAN	V	430	ENSP00000373539:A430V	ENSP00000373539:A430V	A	+	2	0	STAB2	102570495	0.998000	0.40836	0.859000	0.33776	0.104000	0.19210	3.887000	0.56197	2.752000	0.94435	0.655000	0.94253	GCT		0.368	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			13	302	0	0	0	1	0	13	302				
TMEM259	91304	broad.mit.edu	37	19	1011428	1011428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1011428C>T	ENST00000356663.3	-	9	1276	c.1155G>A	c.(1153-1155)tgG>tgA	p.W385*	TMEM259_ENST00000333175.5_Nonsense_Mutation_p.W385*	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	385						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGTCCGCGAGCCACACGATGA	0.647																																						ENST00000356663.3																			0											c.(1153-1155)tgG>tgA		transmembrane protein 259							63.0	46.0	52.0					19																	1011428		2189	4290	6479	SO:0001587	stop_gained	91304							g.chr19:1011428C>T	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1155G>A	19.37:g.1011428C>T	ENSP00000349087:p.Trp385*					TMEM259_ENST00000333175.5_Nonsense_Mutation_p.W385*	p.W385*	NM_001033026.1	NP_001028198.1					9	1276	-								O60392|Q8NF79|Q96H30	Nonsense_Mutation	SNP	ENST00000356663.3	37	c.1155G>A	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	C	38	6.666286	0.97747	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	3.81	3.81	0.43845	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2499	14.7309	0.69379	0.0:1.0:0.0:0.0	.	.	.	.	X	385	.	ENSP00000331423:W385X	W	-	3	0	C19orf6	962428	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.157000	0.77461	1.683000	0.51011	0.450000	0.29827	TGG		0.647	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		9	26	0	0	0	1	0	9	26				
ANGPTL6	83854	broad.mit.edu	37	19	10205540	10205540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10205540C>T	ENST00000253109.4	-	3	895	c.657G>A	c.(655-657)atG>atA	p.M219I	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	219					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CTGGGTCCAGCATCCTACTGG	0.647																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(655-657)atG>atA		angiopoietin-like 6							66.0	58.0	61.0					19																	10205540		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10205540C>T	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.657G>A	19.37:g.10205540C>T	ENSP00000253109:p.Met219Ile					ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I	p.M219I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		3	895	-			219					A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.657G>A	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	0.417	-0.910153	0.02434	.	.	ENSG00000130812	ENST00000253109	T	0.51071	0.72	4.02	1.81	0.25067	.	4.157180	0.00589	N	0.000341	T	0.27349	0.0671	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20605	-1.0270	10	0.35671	T	0.21	.	2.2278	0.03989	0.204:0.4872:0.1976:0.1112	.	219	Q8NI99	ANGL6_HUMAN	I	219	ENSP00000253109:M219I	ENSP00000253109:M219I	M	-	3	0	ANGPTL6	10066540	0.000000	0.05858	0.253000	0.24343	0.063000	0.16089	0.086000	0.14935	0.988000	0.38734	0.484000	0.47621	ATG		0.647	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		68	269	0	0	0	1	0	68	269				
GABRB3	2562	broad.mit.edu	37	15	26866564	26866564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26866564C>T	ENST00000311550.5	-	4	469	c.358G>A	c.(358-360)Gac>Aac	p.D120N	GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N|GABRB3_ENST00000541819.2_Missense_Mutation_p.D176N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	120	Agonist binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.D120Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAATATGTGTCGGGCACCCAT	0.463																																						ENST00000541819.2																			1	Substitution - Missense(1)	p.D120Y(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(526-528)Gac>Aac		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						107.0	102.0	104.0					15																	26866564		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866564C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.358G>A	15.37:g.26866564C>T	ENSP00000308725:p.Asp120Asn					GABRB3_ENST00000311550.5_Missense_Mutation_p.D120N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N	p.D176N			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	628	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	120					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.526G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652241	0.96724	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94638	0.7828	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	176;120;120	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	120;176;120;49;35;35	ENSP00000308725:D120N;ENSP00000442408:D176N;ENSP00000299267:D120N;ENSP00000383049:D49N;ENSP00000439169:D35N;ENSP00000452272:D35N	ENSP00000299267:D120N	D	-	1	0	GABRB3	24417657	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	GAC		0.463	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			81	373	0	0	0	1	0	81	373				
TMPRSS9	360200	broad.mit.edu	37	19	2389901	2389901	+	Missense_Mutation	SNP	G	G	A	rs368830380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2389901G>A	ENST00000332578.3	+	1	118	c.118G>A	c.(118-120)Gtc>Atc	p.V40I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	40					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCTTGTCGTCCTCACCCT	0.592																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(118-120)Gtc>Atc		transmembrane protease, serine 9		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	117.0	89.0	98.0		118	-8.8	0.0	19		98	0,8600		0,0,4300	no	missense	TMPRSS9	NM_182973.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	40/1060	2389901	2,13004	2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2389901G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.118G>A	19.37:g.2389901G>A	ENSP00000330264:p.Val40Ile						p.V40I	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	118	+			40					Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.118G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	2.258	-0.369927	0.05069	4.54E-4	0.0	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87571	-2.27	4.39	-8.77	0.00827	.	2.144020	0.02082	N	0.052415	T	0.67730	0.2924	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.64618	-0.6365	10	0.02654	T	1	.	5.5426	0.17045	0.1342:0.1864:0.5873:0.0922	.	40;40	Q7Z410;E7EMP4	TMPS9_HUMAN;.	I	40	ENSP00000330264:V40I	ENSP00000330264:V40I	V	+	1	0	TMPRSS9	2340901	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.757000	0.01811	-3.156000	0.00229	-1.459000	0.01027	GTC		0.592	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		52	315	0	0	0	1	0	52	315				
SPTB	6710	broad.mit.edu	37	14	65263370	65263370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65263370G>A	ENST00000389721.5	-	10	1278	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_Missense_Mutation_p.R416W|SPTB_ENST00000389720.3_Missense_Mutation_p.R416W|SPTB_ENST00000389722.3_Missense_Mutation_p.R416W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	416					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTCCTGCCGAATGAGCTCA	0.582																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1246-1248)Cgg>Tgg		spectrin, beta, erythrocytic							58.0	60.0	60.0					14																	65263370		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65263370G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1246C>T	14.37:g.65263370G>A	ENSP00000374371:p.Arg416Trp					SPTB_ENST00000389721.5_Missense_Mutation_p.R416W|SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000389720.3_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_Missense_Mutation_p.R416W	p.R416W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	10	1299	-		all_lung(585;4.15e-09)	416					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1246C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334333	0.81801	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91821	0.5467	10	0.87932	D	0	.	14.3709	0.66838	0.0:0.0:0.8514:0.1485	.	416;420	P11277;Q59FP5	SPTB1_HUMAN;.	W	420;416;416;416;416;416	ENSP00000374372:R416W;ENSP00000451752:R416W;ENSP00000374371:R416W;ENSP00000443882:R416W;ENSP00000374370:R416W	ENSP00000374370:R416W	R	-	1	2	SPTB	64333123	1.000000	0.71417	0.990000	0.47175	0.846000	0.48090	3.197000	0.51028	2.756000	0.94617	0.655000	0.94253	CGG		0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			7	303	0	0	0	1	0	7	303				
SLC34A1	6569	broad.mit.edu	37	5	176813105	176813105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813105C>T	ENST00000324417.5	+	3	318	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A76V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	76					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACTGCCTGCCAAGCTGGCC	0.687																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(226-228)gCc>gTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							29.0	34.0	32.0					5																	176813105		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176813105C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.227C>T	5.37:g.176813105C>T	ENSP00000321424:p.Ala76Val					SLC34A1_ENST00000512593.1_Missense_Mutation_p.A76V	p.A76V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	318	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	76					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.227C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561095	0.45590	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	T;T	0.46819	0.86;1.49	5.06	4.19	0.49359	.	0.357702	0.26467	N	0.024205	T	0.31327	0.0793	L	0.27053	0.805	0.23056	N	0.998362	B	0.02656	0.0	B	0.04013	0.001	T	0.14504	-1.0470	10	0.39692	T	0.17	-19.1714	7.0723	0.25185	0.0:0.718:0.1893:0.0927	.	76	Q06495	NPT2A_HUMAN	V	76	ENSP00000423022:A76V;ENSP00000321424:A76V	ENSP00000321424:A76V	A	+	2	0	SLC34A1	176745711	0.147000	0.22687	0.999000	0.59377	0.917000	0.54804	-0.007000	0.12810	1.364000	0.46038	0.561000	0.74099	GCC		0.687	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		79	204	0	0	0	1	0	79	204				
ATP10D	57205	broad.mit.edu	37	4	47560058	47560058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47560058G>A	ENST00000273859.3	+	12	2471	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	734					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CGGCCTTAGTGTATGCCGCCA	0.557																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(2200-2202)gtG>gtA		ATPase, class V, type 10D							93.0	80.0	84.0					4																	47560058		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47560058G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2202G>A	4.37:g.47560058G>A						AC092597.3_ENST00000508081.1_RNA	p.V734V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2471	+			734					A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.2202G>A	CCDS3476.1																																																																																				0.557	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		55	269	0	0	0	1	0	55	269				
HEPACAM2	253012	broad.mit.edu	37	7	92838007	92838007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92838007C>A	ENST00000394468.2	-	4	975	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*|HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	300	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GATGCAACTTCTAAGCGAGGC	0.433																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(898-900)Gaa>Taa		HEPACAM family member 2							168.0	150.0	156.0					7																	92838007		2203	4300	6503	SO:0001587	stop_gained	253012					integral to membrane		g.chr7:92838007C>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.898G>T	7.37:g.92838007C>A	ENSP00000377980:p.Glu300*					HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*	p.E300*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			4	975	-			300			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Nonsense_Mutation	SNP	ENST00000394468.2	37	c.898G>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929985	0.92389	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	.	.	.	5.23	4.28	0.50868	.	0.047731	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-25.2396	9.6034	0.39619	0.0:0.7803:0.1439:0.0758	.	.	.	.	X	300;288;288;323	.	ENSP00000340532:E288X	E	-	1	0	HEPACAM2	92675943	1.000000	0.71417	0.984000	0.44739	0.701000	0.40568	4.060000	0.57477	2.826000	0.97356	0.655000	0.94253	GAA		0.433	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		92	359	1	0	5.56898e-48	1	6.86499e-48	92	359				
MGEA5	10724	broad.mit.edu	37	10	103565854	103565854	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103565854A>C	ENST00000361464.3	-	6	1094	c.699T>G	c.(697-699)taT>taG	p.Y233*	MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	233					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CAGTCCTTAAATATGGAGACT	0.353																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(697-699)taT>taG		meningioma expressed antigen 5 (hyaluronidase)							64.0	61.0	62.0					10																	103565854		2203	4300	6503	SO:0001587	stop_gained	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103565854A>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.699T>G	10.37:g.103565854A>C	ENSP00000354850:p.Tyr233*					MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*	p.Y233*	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	6	1094	-		Colorectal(252;0.207)	233					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Nonsense_Mutation	SNP	ENST00000361464.3	37	c.699T>G	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	A	37	6.507353	0.97624	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	5.27	0.378	0.16204	.	0.130087	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5857	8.4558	0.32899	0.6723:0.0:0.3277:0.0	.	.	.	.	X	233	.	ENSP00000350445:Y233X	Y	-	3	2	MGEA5	103555844	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.082000	0.30803	-0.170000	0.10816	0.529000	0.55759	TAT		0.353	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		54	177	0	0	0	1	0	54	177				
LRP1B	53353	broad.mit.edu	37	2	141526881	141526881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141526881C>T	ENST00000389484.3	-	35	6630	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1887					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGATTCCTTCATGAACAGAG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5659-5661)Gaa>Aaa		low density lipoprotein receptor-related protein 1B							77.0	75.0	75.0					2																	141526881		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141526881C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5659G>A	2.37:g.141526881C>T	ENSP00000374135:p.Glu1887Lys	TSP Lung(27;0.18)					p.E1887K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	35	6630	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1887					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5659G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775521	0.90195	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	L	0.33485	1.01	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.87270	0.2285	10	0.08381	T	0.77	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	1887	Q9NZR2	LRP1B_HUMAN	K	1887;1825	ENSP00000374135:E1887K	ENSP00000374135:E1887K	E	-	1	0	LRP1B	141243351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.636000	0.89361	0.655000	0.94253	GAA		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	232	0	0	0	1	0	27	232				
CPB2	1361	broad.mit.edu	37	13	46679085	46679085	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46679085G>A	ENST00000181383.4	-	1	76	c.60C>T	c.(58-60)gtC>gtT	p.V20V	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Silent_p.V20V	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	20					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAACGCGAAGACATGCTGCT	0.468																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(58-60)gtC>gtT		carboxypeptidase B2 (plasma)							129.0	115.0	120.0					13																	46679085		2203	4300	6503	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46679085G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.60C>T	13.37:g.46679085G>A						CPB2_ENST00000439329.3_Silent_p.V20V|CPB2-AS1_ENST00000415033.2_RNA	p.V20V	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	1	76	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	20					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.60C>T	CCDS9401.1																																																																																				0.468	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		11	255	0	0	0	1	0	11	255				
FN1	2335	broad.mit.edu	37	2	216249593	216249593	+	Silent	SNP	G	G	A	rs147150819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216249593G>A	ENST00000359671.1	-	28	4711	c.4446C>T	c.(4444-4446)taC>taT	p.Y1482Y	FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y|FN1_ENST00000354785.4_Silent_p.Y1573Y|FN1_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000443816.1_Silent_p.Y1482Y|FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000336916.4_Silent_p.Y1482Y			P02751	FINC_HUMAN	fibronectin 1	1482	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGTCTCTCCGTAAGTGATCC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		15606	0.0		0.0	False		,,,				2504	0.001					ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(4717-4719)taC>taT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	,,,,	0,4406		0,0,2203	67.0	63.0	64.0		4446,4446,4446,4446,4719	0.9	1.0	2	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	1482/2356,1482/2177,1482/2297,1482/2331,1573/2478	216249593	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216249593G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4446C>T	2.37:g.216249593G>A						FN1_ENST00000359671.1_Silent_p.Y1482Y|FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000336916.4_Silent_p.Y1482Y|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000443816.1_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y	p.Y1573Y			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	29	5088	-		Renal(323;0.127)	1576			Fibronectin type-III 11.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.4719C>T																																																																																					0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		40	242	0	0	0	1	0	40	242				
FAT1	2195	broad.mit.edu	37	4	187628088	187628088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187628088C>T	ENST00000441802.2	-	2	3103	c.2894G>A	c.(2893-2895)aGc>aAc	p.S965N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	965	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCAGAAGGCTGTATCTCAC	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2893-2895)aGc>aAc		FAT atypical cadherin 1							184.0	175.0	178.0					4																	187628088		1923	4149	6072	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628088C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2894G>A	4.37:g.187628088C>T	ENSP00000406229:p.Ser965Asn	HNSCC(5;0.00058)					p.S965N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	3103	-			965			Cadherin 8.			Missense_Mutation	SNP	ENST00000441802.2	37	c.2894G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165248	0.21538	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54866	0.55	4.67	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.041576	0.85682	D	0.000000	T	0.58524	0.2128	M	0.67397	2.05	0.58432	D	0.999997	P	0.41159	0.74	P	0.46339	0.513	T	0.61441	-0.7062	10	0.42905	T	0.14	.	14.7591	0.69593	0.0:0.8416:0.1583:0.0	.	965	Q14517	FAT1_HUMAN	N	965	ENSP00000406229:S965N	ENSP00000260147:S965N	S	-	2	0	FAT1	187865082	1.000000	0.71417	0.919000	0.36401	0.012000	0.07955	4.708000	0.61859	1.285000	0.44548	0.491000	0.48974	AGC		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		74	728	0	0	0	1	0	74	728				
SLC9A3	6550	broad.mit.edu	37	5	485298	485298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:485298C>T	ENST00000264938.3	-	4	733	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	242					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACGCCAGTCACGTTGTCACCT	0.607																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(724-726)Gtg>Atg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							198.0	159.0	173.0					5																	485298		2202	4300	6502	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:485298C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.724G>A	5.37:g.485298C>T	ENSP00000264938:p.Val242Met					SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	p.V242M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	733	-			242					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.724G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057595	0.36277	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.15487	2.42;2.42	4.15	4.15	0.48705	Cation/H+ exchanger (1);	0.277476	0.34750	N	0.003714	T	0.34077	0.0885	M	0.64170	1.965	0.33732	D	0.618384	D;D	0.69078	0.996;0.997	D;D	0.64042	0.921;0.911	T	0.51044	-0.8755	10	0.87932	D	0	.	11.1548	0.48480	0.0:0.9076:0.0:0.0924	.	242;242	E9PF67;P48764	.;SL9A3_HUMAN	M	242	ENSP00000264938:V242M;ENSP00000422983:V242M	ENSP00000264938:V242M	V	-	1	0	SLC9A3	538298	0.948000	0.32251	0.858000	0.33744	0.017000	0.09413	1.942000	0.40243	2.032000	0.59987	0.561000	0.74099	GTG		0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		10	302	0	0	0	1	0	10	302				
CTBP2	1488	broad.mit.edu	37	10	126681860	126681860	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126681860A>C	ENST00000337195.5	-	9	1349	c.950T>G	c.(949-951)aTc>aGc	p.I317S	CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000309035.6_Missense_Mutation_p.I857S|CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	317					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGAGTGCAGATGAGATTCGG	0.562																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2569-2571)aTc>aGc		C-terminal binding protein 2							36.0	33.0	34.0					10																	126681860		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126681860A>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.950T>G	10.37:g.126681860A>C	ENSP00000338615:p.Ile317Ser					CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000337195.5_Missense_Mutation_p.I317S|CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S	p.I857S	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	7	2700	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	317					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2570T>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261020	0.80246	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.72	4.72	0.59763	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90883	0.4755	10	0.87932	D	0	.	14.3858	0.66942	1.0:0.0:0.0:0.0	.	317;857;385	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	S	317;857;385;317;317;317	ENSP00000338615:I317S;ENSP00000311825:I857S;ENSP00000357816:I385S;ENSP00000434630:I317S;ENSP00000436285:I317S;ENSP00000410474:I317S	ENSP00000311825:I857S	I	-	2	0	CTBP2	126671850	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	8.729000	0.91490	1.991000	0.58162	0.459000	0.35465	ATC		0.562	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		17	128	0	0	0	1	0	17	128				
IGSF3	3321	broad.mit.edu	37	1	117120136	117120136	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117120136A>G	ENST00000369486.3	-	11	4148	c.3383T>C	c.(3382-3384)tTc>tCc	p.F1128S	IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S|IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1128					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAAGAAGACGAAGTAGAAGAG	0.498																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(3382-3384)tTc>tCc		immunoglobulin superfamily, member 3							143.0	143.0	143.0					1																	117120136		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117120136A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3383T>C	1.37:g.117120136A>G	ENSP00000358498:p.Phe1128Ser					IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S|IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S	p.F1128S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	11	4148	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1128					A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.3383T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258429	0.80246	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.04603	3.6;3.59;3.59	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.47716	1.5	0.51233	D	0.999915	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.32798	-0.9893	10	0.40728	T	0.16	-37.6565	12.5239	0.56075	1.0:0.0:0.0:0.0	.	1128;1148	O75054;A6NJZ6	IGSF3_HUMAN;.	S	1128;1148;1148	ENSP00000358498:F1128S;ENSP00000358495:F1148S;ENSP00000321184:F1148S	ENSP00000321184:F1148S	F	-	2	0	IGSF3	116921659	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.403000	0.90208	2.056000	0.61249	0.533000	0.62120	TTC		0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		51	216	0	0	0	1	0	51	216				
AKAP4	8852	broad.mit.edu	37	X	49957076	49957076	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957076T>G	ENST00000376056.2	-	5	2411	c.2261A>C	c.(2260-2262)aAt>aCt	p.N754T	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.N380T|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T|AKAP4_ENST00000376064.3_Missense_Mutation_p.N754T					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGAGCACTGATTATTGACAAT	0.478																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2260-2262)aAt>aCt		A kinase (PRKA) anchor protein 4							88.0	62.0	70.0					X																	49957076		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957076T>G	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2261A>C	X.37:g.49957076T>G	ENSP00000365224:p.Asn754Thr					AKAP4_ENST00000376058.2_Missense_Mutation_p.N380T|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T|AKAP4_ENST00000376064.3_Missense_Mutation_p.N754T|AKAP4_ENST00000481402.1_5'UTR	p.N754T			Q5JQC9	AKAP4_HUMAN			5	2411	-	Ovarian(276;0.236)		763						Missense_Mutation	SNP	ENST00000376056.2	37	c.2261A>C	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048370	0.36181	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.83	4.83	0.62350	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000023	T	0.35624	0.0938	M	0.77820	2.39	0.30941	N	0.725794	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.41716	-0.9493	9	.	.	.	-21.6637	9.9508	0.41638	0.0:0.0:0.0:1.0	.	763;380	Q5JQC9;A6ND82	AKAP4_HUMAN;.	T	754;380;763;754	ENSP00000365224:N754T;ENSP00000365226:N380T;ENSP00000351327:N763T;ENSP00000365232:N754T	.	N	-	2	0	AKAP4	49843816	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	2.898000	0.48672	1.613000	0.50231	0.430000	0.28490	AAT		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		21	60	0	0	0	1	0	21	60				
MIR412	574433	broad.mit.edu	37	14	101531947	101531947	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101531947C>T	ENST00000362142.2	+	0	91				MIR656_ENST00000385224.1_RNA|MIR410_ENST00000362222.2_RNA|MIR369_ENST00000362155.3_RNA|MIR541_ENST00000401360.1_RNA|MIR409_ENST00000362237.1_RNA	NR_030155.1				microRNA 412																		GAAGGGAGATCGACCGTGTTA	0.537																																						ENST00000362155.3																			0																				150.0	139.0	143.0					14																	101531947		1568	3582	5150			0							g.chr14:101531947C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101531947C>T								NR_029862.1						0	30	+									RNA	SNP	ENST00000362142.2	37																																																																																						0.537	MIR412-201	KNOWN	basic	miRNA	miRNA		NR_030155		91	405	0	0	0	1	0	91	405				
RAPGEF4	11069	broad.mit.edu	37	2	173848280	173848280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173848280T>G	ENST00000397081.3	+	11	1204	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.I353S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	354					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTTCTTCATATTAAAGCCTTA	0.388																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1057-1059)aTt>aGt		Rap guanine nucleotide exchange factor (GEF) 4							194.0	185.0	188.0					2																	173848280		1840	4102	5942	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173848280T>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1061T>G	2.37:g.173848280T>G	ENSP00000380271:p.Ile354Ser					RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.I354S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S	p.I353S			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		11	1245	+			354					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1058T>G	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940936	0.73557	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	M	0.79926	2.475	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.919;0.531;0.999	D;D;P;P;D	0.87578	0.989;0.997;0.771;0.466;0.998	D	0.93435	0.6789	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	181;183;210;354;354	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	S	353;354;354;210;183;201;201;181;134	ENSP00000264111:I353S;ENSP00000380271:I354S;ENSP00000387104:I354S;ENSP00000380276:I210S;ENSP00000440135:I183S;ENSP00000440250:I201S;ENSP00000437384:I201S;ENSP00000438011:I134S	ENSP00000264111:I353S	I	+	2	0	RAPGEF4	173556526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	2.333000	0.79357	0.482000	0.46254	ATT		0.388	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		96	478	0	0	0	1	0	96	478				
TTN	7273	broad.mit.edu	37	2	179396844	179396844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396844G>A	ENST00000591111.1	-	308	99799	c.99575C>T	c.(99574-99576)gCg>gTg	p.A33192V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A34833V|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33192	Poly-Ser.				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)			TAGTCTAGACGCAGATGAGGA	0.453																																						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.(104497-104499)gCg>gTg		titin							97.0	90.0	92.0					2																	179396844		1990	4168	6158	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396844G>A	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.99575C>T	2.37:g.179396844G>A	ENSP00000465570:p.Ala33192Val					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A33192V|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA	p.A34833V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	104722	-			33192					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.104498C>T		.	.	.	.	.	.	.	.	.	.	G	3.741	-0.053536	0.07362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.6;0.58;0.57	5.55	3.04	0.35103	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.28665	0.0710	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22800	-1.0206	9	0.87932	D	0	.	7.9077	0.29771	0.6567:0.0:0.3433:0.0	.	25768;25893;25960;33192	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32265;25768;25960;25893;25765	ENSP00000343764:A32265V;ENSP00000434586:A25768V;ENSP00000340554:A25960V;ENSP00000352154:A25893V	ENSP00000340554:A25960V	A	-	2	0	TTN	179105090	0.860000	0.29831	0.051000	0.19133	0.336000	0.28762	1.809000	0.38922	0.334000	0.23590	-0.355000	0.07637	GCG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	212	0	0	0	1	0	25	212				
CWC22	57703	broad.mit.edu	37	2	180842944	180842944	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180842944A>G	ENST00000410053.3	-	6	853	c.554T>C	c.(553-555)cTt>cCt	p.L185P	CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	185	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTCTTGAAGAAGCTCTTGAAT	0.308																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(553-555)cTt>cCt		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							65.0	63.0	63.0					2																	180842944		1796	4061	5857	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180842944A>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.554T>C	2.37:g.180842944A>G	ENSP00000387006:p.Leu185Pro					CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	p.L185P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			6	853	-			185			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.554T>C	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410899	0.83340	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.34667	1.35;1.35;1.35	5.87	5.87	0.94306	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.060030	0.64402	D	0.000002	T	0.71676	0.3368	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81057	-0.1105	10	0.87932	D	0	-11.607	15.4442	0.75216	1.0:0.0:0.0:0.0	.	185	Q9HCG8	CWC22_HUMAN	P	185	ENSP00000387006:L185P;ENSP00000295749:L185P;ENSP00000384159:L185P	ENSP00000295749:L185P	L	-	2	0	CWC22	180551189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.051000	0.93849	2.239000	0.73571	0.528000	0.53228	CTT		0.308	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		25	79	0	0	0	1	0	25	79				
SOGA3	387104	broad.mit.edu	37	6	127834117	127834117	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127834117T>G	ENST00000525778.1	-	4	2149	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D	SOGA3_ENST00000481848.2_Missense_Mutation_p.E468D|SOGA3_ENST00000556132.1_Missense_Mutation_p.E468D|SOGA3_ENST00000465909.2_Missense_Mutation_p.E468D|SOGA3_ENST00000368268.2_Missense_Mutation_p.E468D			Q5TF21	SOGA3_HUMAN	SOGA family member 3	468					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GTTTCTCATTTTCATCTTCTG	0.338																																						ENST00000556132.1																			0											c.(1402-1404)gaA>gaC		SOGA family member 3							161.0	142.0	148.0					6																	127834117		1835	4092	5927	SO:0001583	missense	387104					integral to membrane		g.chr6:127834117T>G	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1404A>C	6.37:g.127834117T>G	ENSP00000434570:p.Glu468Asp					SOGA3_ENST00000465909.2_Missense_Mutation_p.E468D|SOGA3_ENST00000525778.1_Missense_Mutation_p.E468D|SOGA3_ENST00000368268.2_Missense_Mutation_p.E468D|SOGA3_ENST00000481848.2_Missense_Mutation_p.E468D	p.E468D	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			4	2268	-			468						Missense_Mutation	SNP	ENST00000525778.1	37	c.1404A>C	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692364	0.88735	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	M	0.64260	1.97	0.54753	D	0.999985	P	0.36990	0.577	B	0.37091	0.241	T	0.22382	-1.0218	10	0.48119	T	0.1	-15.0245	15.9355	0.79704	0.0:0.0:0.0:1.0	.	468	Q5TF21	CF174_HUMAN	D	468	ENSP00000451768:E468D;ENSP00000357251:E468D;ENSP00000434570:E468D;ENSP00000435559:E468D	ENSP00000435559:E468D	E	-	3	2	C6orf174	127875810	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.023000	0.70848	2.234000	0.73211	0.533000	0.62120	GAA		0.338	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		17	84	0	0	0	1	0	17	84				
COLGALT1	79709	broad.mit.edu	37	19	17692188	17692188	+	Missense_Mutation	SNP	C	C	A	rs535742636		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17692188C>A	ENST00000252599.4	+	12	1924	c.1804C>A	c.(1804-1806)Cgt>Agt	p.R602S		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	602					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										GGCACTGAGCCGTGAGGCCAA	0.607																																						ENST00000252599.4																			0											c.(1804-1806)Cgt>Agt		collagen beta(1-O)galactosyltransferase 1							77.0	66.0	70.0					19																	17692188		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17692188C>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1804C>A	19.37:g.17692188C>A	ENSP00000252599:p.Arg602Ser						p.R602S	NM_024656.2	NP_078932.2					12	1924	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1804C>A	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	1.822	-0.471974	0.04445	.	.	ENSG00000130309	ENST00000252599	T	0.75589	-0.95	4.96	3.9	0.45041	.	0.592880	0.16857	N	0.196670	T	0.33818	0.0876	N	0.00368	-1.59	0.31049	N	0.715398	B	0.06786	0.001	B	0.08055	0.003	T	0.40701	-0.9549	10	0.05620	T	0.96	-36.6751	9.3345	0.38043	0.3653:0.6347:0.0:0.0	.	602	Q8NBJ5	GT251_HUMAN	S	602	ENSP00000252599:R602S	ENSP00000252599:R602S	R	+	1	0	GLT25D1	17553188	0.995000	0.38212	0.998000	0.56505	0.651000	0.38670	2.680000	0.46918	2.298000	0.77334	0.313000	0.20887	CGT		0.607	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		10	350	1	0	2.17888e-05	1	2.22852e-05	10	350				
PTPN21	11099	broad.mit.edu	37	14	88983472	88983472	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983472A>G	ENST00000556564.1	-	3	598	c.314T>C	c.(313-315)gTg>gCg	p.V105A	PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	105	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AACTGAAGGCACATAAAACAC	0.403																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(313-315)gTg>gCg		protein tyrosine phosphatase, non-receptor type 21							113.0	102.0	106.0					14																	88983472		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983472A>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.314T>C	14.37:g.88983472A>G	ENSP00000452414:p.Val105Ala					PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A|PTPN21_ENST00000554628.1_5'UTR	p.V105A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			3	598	-			105			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.314T>C	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417638	0.62622	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78364	-1.17;-1.17;-1.17	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.076746	0.51477	D	0.000088	T	0.80253	0.4589	L	0.39633	1.23	0.44627	D	0.997602	P;P	0.51537	0.855;0.946	P;P	0.54060	0.615;0.741	T	0.82333	-0.0509	10	0.72032	D	0.01	.	16.1024	0.81184	1.0:0.0:0.0:0.0	.	105;105	G3V3S6;Q16825	.;PTN21_HUMAN	A	105	ENSP00000330276:V105A;ENSP00000452414:V105A;ENSP00000451401:V105A	ENSP00000330276:V105A	V	-	2	0	PTPN21	88053225	1.000000	0.71417	0.999000	0.59377	0.147000	0.21601	9.339000	0.96797	2.200000	0.70718	0.459000	0.35465	GTG		0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			64	284	0	0	0	1	0	64	284				
CCDC62	84660	broad.mit.edu	37	12	123297931	123297931	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123297931A>G	ENST00000253079.6	+	11	2310	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V|CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V|CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	656					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTGCTGCCCATCAGCCATGA	0.517																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1966-1968)Atc>Gtc		coiled-coil domain containing 62							110.0	95.0	100.0					12																	123297931		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123297931A>G		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1966A>G	12.37:g.123297931A>G	ENSP00000253079:p.Ile656Val					CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V|CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V|CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V	p.I656V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	11	2310	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		656					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.1966A>G	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870432	0.33069	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.45668	1.47;1.47;0.89;0.89	5.56	-2.86	0.05717	.	0.529195	0.17425	N	0.174662	T	0.26448	0.0646	L	0.31926	0.97	0.25412	N	0.988349	B;B;B	0.15930	0.01;0.015;0.008	B;B;B	0.19946	0.02;0.027;0.019	T	0.16660	-1.0395	10	0.38643	T	0.18	-2.8178	8.1127	0.30924	0.3161:0.5281:0.1558:0.0	.	656;417;656	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	V	656;656;417;417	ENSP00000253079:I656V;ENSP00000376236:I656V;ENSP00000445045:I417V;ENSP00000376235:I417V	ENSP00000253079:I656V	I	+	1	0	CCDC62	121863884	0.909000	0.30893	0.904000	0.35570	0.697000	0.40408	0.254000	0.18314	-0.376000	0.07943	0.528000	0.53228	ATC		0.517	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		65	280	0	0	0	1	0	65	280				
SRPR	6734	broad.mit.edu	37	11	126133894	126133894	+	Missense_Mutation	SNP	C	C	T	rs149620514	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126133894C>T	ENST00000332118.6	-	14	1988	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	SRPR_ENST00000532259.1_Missense_Mutation_p.V584I	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	612					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCCACAAAGACGATGGGTTTG	0.537													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20870	0.001		0.0	False		,,,				2504	0.0					ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1834-1836)Gtc>Atc		signal recognition particle receptor (docking protein)							147.0	133.0	138.0					11																	126133894		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126133894C>T	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1834G>A	11.37:g.126133894C>T	ENSP00000328023:p.Val612Ile					SRPR_ENST00000532259.1_Missense_Mutation_p.V584I	p.V612I	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	14	1988	-	all_hematologic(175;0.145)		612					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1834G>A	CCDS31717.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	26.2	4.712081	0.89112	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.89	4.89	0.63831	Signal recognition particle, SRP54 subunit, GTPase (3);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.41124	1.26	0.80722	D	1	D;P	0.56521	0.976;0.951	P;P	0.51453	0.67;0.67	T	0.59600	-0.7424	9	0.38643	T	0.18	-17.3446	18.2376	0.89954	0.0:1.0:0.0:0.0	.	584;612	E9PJS4;P08240	.;SRPR_HUMAN	I	612;584	.	ENSP00000328023:V612I	V	-	1	0	SRPR	125639104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.631000	0.83237	2.535000	0.85469	0.591000	0.81541	GTC		0.537	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		99	392	0	0	0	1	0	99	392				
DHX58	79132	broad.mit.edu	37	17	40259654	40259654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259654C>T	ENST00000251642.3	-	8	1187	c.965G>A	c.(964-966)tGt>tAt	p.C322Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	322					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCGCTCGGCACACAGGATCTG	0.662																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(964-966)tGt>tAt		DEXH (Asp-Glu-X-His) box polypeptide 58							31.0	30.0	30.0					17																	40259654		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40259654C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.965G>A	17.37:g.40259654C>T	ENSP00000251642:p.Cys322Tyr						p.C322Y	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	8	1187	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	322					Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.965G>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659381	0.47467	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.04275	3.66	5.38	-6.61	0.01818	.	1.661990	0.03753	N	0.256957	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.09377	0.004;0.004	T	0.46652	-0.9176	10	0.59425	D	0.04	.	8.7319	0.34505	0.0:0.588:0.1601:0.2519	.	315;322	B7Z455;Q96C10	.;DHX58_HUMAN	Y	322;285	ENSP00000251642:C322Y	ENSP00000251642:C322Y	C	-	2	0	DHX58	37513180	0.000000	0.05858	0.006000	0.13384	0.982000	0.71751	-3.723000	0.00383	-0.846000	0.04174	0.462000	0.41574	TGT		0.662	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		24	107	0	0	0	1	0	24	107				
CHD7	55636	broad.mit.edu	37	8	61729060	61729060	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61729060G>A	ENST00000423902.2	+	8	3092	c.2613G>A	c.(2611-2613)gaG>gaA	p.E871E	CHD7_ENST00000525508.1_Splice_Site_p.E871E|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	871			E -> D (in CHARGES). {ECO:0000269|PubMed:21158681}.		adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTTTCAGAGGTACGACATA	0.323																																						ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.e8+1		chromodomain helicase DNA binding protein 7							56.0	50.0	51.0					8																	61729060		1812	4074	5886	SO:0001630	splice_region_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61729060G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2613+1G>A	8.37:g.61729060G>A						CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Splice_Site_p.E871_splice	p.E871_splice	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		8	3092	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	871					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Splice_Site	SNP	ENST00000423902.2	37	c.2613_splice	CCDS47865.1																																																																																				0.323	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	Silent	11	60	0	0	0	1	0	11	60				
TCF23	150921	broad.mit.edu	37	2	27372993	27372993	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27372993C>T	ENST00000296096.5	+	2	355	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	75					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCAGAGCGAGGCCAGTC	0.657																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(223-225)agC>agT		transcription factor 23							41.0	46.0	44.0					2																	27372993		2202	4300	6502	SO:0001819	synonymous_variant	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27372993C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.225C>T	2.37:g.27372993C>T							p.S75S	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	355	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		75					B2RNZ3	Silent	SNP	ENST00000296096.5	37	c.225C>T	CCDS33163.1																																																																																				0.657	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		12	439	0	0	0	1	0	12	439				
FEZF1	389549	broad.mit.edu	37	7	121944281	121944281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944281T>C	ENST00000442488.2	-	1	278	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	71					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCAGGGGATCGACGAGTTG	0.677																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(211-213)Atc>Gtc		FEZ family zinc finger 1							94.0	83.0	87.0					7																	121944281		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944281T>C	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.211A>G	7.37:g.121944281T>C	ENSP00000411145:p.Ile71Val					FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V	p.I71V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	278	-			71					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.211A>G	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569433	0.28003	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08370	3.16;3.28;3.1	4.65	3.47	0.39725	.	0.116516	0.64402	D	0.000017	T	0.08223	0.0205	L	0.36672	1.1	0.31931	N	0.612159	B;B	0.29432	0.158;0.244	B;B	0.31547	0.042;0.132	T	0.05582	-1.0876	10	0.45353	T	0.12	-18.4477	11.2114	0.48802	0.0:0.0:0.2913:0.7087	.	71;71	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	V	71	ENSP00000411145:I71V;ENSP00000332777:I71V;ENSP00000392727:I71V	ENSP00000332777:I71V	I	-	1	0	FEZF1	121731517	0.999000	0.42202	0.999000	0.59377	0.866000	0.49608	1.097000	0.30988	0.883000	0.36040	-0.478000	0.04885	ATC		0.677	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		62	357	0	0	0	1	0	62	357				
CFAP61	26074	broad.mit.edu	37	20	20180434	20180434	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180434C>A	ENST00000245957.5	+	17	1896	c.1820C>A	c.(1819-1821)tCc>tAc	p.S607Y	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		607										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACGCCCACTCCCTGACATCT	0.498																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1819-1821)tCc>tAc		chromosome 20 open reading frame 26							146.0	131.0	136.0					20																	20180434		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180434C>A																												ENST00000245957.5:c.1820C>A	20.37:g.20180434C>A	ENSP00000245957:p.Ser607Tyr					C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	p.S607Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1896	+			607					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1820C>A	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.445253|3.445253	0.63178|0.63178	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.|T	.|0.48522	.|0.81	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.210965	.|0.42420	.|D	.|0.000702	T|T	0.68412|0.68412	0.2998|0.2998	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.76575	.|0.988;0.974	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.29301	.|T	.|0.29	.|.	19.4135|19.4135	0.94685|0.94685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|587;607	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	T|Y	147|547;175;587;607	.|ENSP00000245957:S607Y	.|ENSP00000245957:S607Y	P|S	+|+	1|2	0|0	C20orf26|C20orf26	20128434|20128434	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	3.428000|3.428000	0.52792|0.52792	2.584000|2.584000	0.87258|0.87258	0.563000|0.563000	0.77884|0.77884	CCC|TCC		0.498	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			159	665	1	0	5.60145e-70	1	7.11217e-70	159	665				
HDLBP	3069	broad.mit.edu	37	2	242189280	242189280	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242189280C>A	ENST00000391975.1	-	12	1715	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	496	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCTCCAGCAGCTCTCGCTTGG	0.597																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1486-1488)gaG>gaT		high density lipoprotein binding protein							117.0	93.0	101.0					2																	242189280		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242189280C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1488G>T	2.37:g.242189280C>A	ENSP00000375836:p.Glu496Asp					HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000476807.1_5'UTR	p.E496D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	12	1715	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	496			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1488G>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.99|19.99	3.929068|3.929068	0.73327|0.73327	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87	5.76|5.76	0.977|0.977	0.19733|0.19733	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47266|0.47266	0.1436|0.1436	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28378	.|0.032;0.209	.|B;B	.|0.40477	.|0.33;0.248	T|T	0.45891|0.45891	-0.9230|-0.9230	5|10	.|0.56958	.|D	.|0.05	-44.6837|-44.6837	10.083|10.083	0.42401|0.42401	0.0:0.6771:0.0:0.3229|0.0:0.6771:0.0:0.3229	.|.	.|463;496	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	S|D	305|496;496;496;463	.|ENSP00000375836:E496D;ENSP00000375837:E496D;ENSP00000312042:E496D;ENSP00000399139:E463D	.|ENSP00000312042:E496D	A|E	-|-	1|3	0|2	HDLBP|HDLBP	241837953|241837953	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.971000|0.971000	0.66376|0.66376	2.634000|2.634000	0.46528|0.46528	-0.029000|-0.029000	0.13827|0.13827	0.655000|0.655000	0.94253|0.94253	GCT|GAG		0.597	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		113	309	1	0	4.04957e-52	1	5.03512e-52	113	309				
MED29	55588	broad.mit.edu	37	19	39880299	39880299	+	5'Flank	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39880299G>T	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Silent_p.T81T|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Silent_p.T91T|PAF1_ENST00000221266.7_Silent_p.T81T			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGATGCGGTAGGTGTCAGGAT	0.587																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(271-273)acC>acA		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							143.0	118.0	127.0					19																	39880299		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880299G>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880299G>T	Exception_encountered					PAF1_ENST00000221266.7_Silent_p.T81T|PAF1_ENST00000595564.1_Silent_p.T81T	p.T91T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		4	603	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		91					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.273C>A																																																																																					0.587	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		99	375	1	0	3.04226e-33	1	3.60366e-33	99	375				
RNASEL	6041	broad.mit.edu	37	1	182555156	182555156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182555156C>A	ENST00000367559.3	-	2	1039	c.786G>T	c.(784-786)gaG>gaT	p.E262D	RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D|RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	262	2-5A binding (P-loop) 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTCTATGTGCTCTTGCTCCA	0.502																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(784-786)gaG>gaT		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							82.0	78.0	79.0					1																	182555156		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555156C>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.786G>T	1.37:g.182555156C>A	ENSP00000356530:p.Glu262Asp					RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D|RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D	p.E262D	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	1039	-			262			2-5A binding (P-loop) 2.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.786G>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735904	0.30774	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.65732	-0.17;-0.17;-0.17	5.15	-4.82	0.03171	Ankyrin repeat-containing domain (4);	0.914573	0.09413	N	0.805560	T	0.34164	0.0888	N	0.12961	0.28	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.16100	-1.0414	10	0.22109	T	0.4	-4.56	4.0995	0.10007	0.1394:0.5038:0.0876:0.2692	.	262;262;262	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	D	262	ENSP00000356530:E262D;ENSP00000411147:E262D;ENSP00000440844:E262D	ENSP00000356530:E262D	E	-	3	2	RNASEL	180821779	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.075000	0.03423	-0.543000	0.06240	0.557000	0.71058	GAG		0.502	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		41	399	1	0	8.16277e-20	1	9.1228e-20	41	399				
CFH	3075	broad.mit.edu	37	1	196642123	196642123	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196642123C>A	ENST00000359637.2	+	2	136	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CFH_ENST00000367429.4_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000439155.2_Missense_Mutation_p.P25H			P08603	CFAH_HUMAN	complement factor H	874	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATGAACTTCCTCCAAGAAGA	0.348																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(73-75)cCt>cAt		complement factor H							45.0	49.0	48.0					1																	196642123		2202	4300	6502	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196642123C>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.74C>A	1.37:g.196642123C>A	ENSP00000352658:p.Pro25His					CFH_ENST00000439155.2_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000359637.2_Missense_Mutation_p.P25H	p.P25H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			2	314	+			25			Sushi 1.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.74C>A		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517558	0.44763	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.69040	1.33;1.25;-0.37	4.99	4.99	0.66335	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.81795	0.4898	M	0.80183	2.485	0.34804	D	0.73707	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.88067	0.2798	9	0.72032	D	0.01	.	13.7649	0.62988	0.0:1.0:0.0:0.0	.	25;25;25;25	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	25	ENSP00000356399:P25H;ENSP00000402656:P25H;ENSP00000352658:P25H	ENSP00000352658:P25H	P	+	2	0	CFH	194908746	1.000000	0.71417	0.985000	0.45067	0.158000	0.22134	3.997000	0.57016	2.321000	0.78463	0.462000	0.41574	CCT		0.348	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		33	232	1	0	5.60225e-13	1	6.03507e-13	33	232				
GHRHR	2692	broad.mit.edu	37	7	31016139	31016139	+	Missense_Mutation	SNP	G	G	A	rs201403615		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31016139G>A	ENST00000326139.2	+	11	1116	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.R293H|GHRHR_ENST00000409316.1_Silent_p.P123P	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	357					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CTGGGCATCCGCCTCCCCCTG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		14801	0.001		0.0	False		,,,				2504	0.0					ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(877-879)cGc>cAc		growth hormone releasing hormone receptor	Sermorelin(DB00010)	G	HIS/ARG	0,4406		0,0,2203	48.0	42.0	44.0		1070	5.1	1.0	7		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	GHRHR	NM_000823.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	357/424	31016139	1,13005	2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016139G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1070G>A	7.37:g.31016139G>A	ENSP00000320180:p.Arg357His					GHRHR_ENST00000326139.2_Missense_Mutation_p.R357H|GHRHR_ENST00000409316.1_Silent_p.P123P|GHRHR_ENST00000461424.1_3'UTR	p.R293H			Q02643	GHRHR_HUMAN			8	1136	+			357					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.878G>A	CCDS5432.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	18.64	3.668179	0.67814	0.0	1.16E-4	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.46451	0.87;0.87	5.05	5.05	0.67936	GPCR, family 2-like (1);	.	.	.	.	T	0.47525	0.1450	M	0.62088	1.915	0.80722	D	1	P;D	0.54964	0.856;0.969	B;P	0.46850	0.303;0.529	T	0.54344	-0.8308	9	0.87932	D	0	.	13.9875	0.64345	0.0:0.0:1.0:0.0	.	293;357	Q9HB45;Q02643	.;GHRHR_HUMAN	H	357;293	ENSP00000320180:R357H;ENSP00000387113:R293H	ENSP00000320180:R357H	R	+	2	0	GHRHR	30982664	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.069000	0.76755	2.346000	0.79739	0.546000	0.68486	CGC		0.577	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			26	107	0	0	0	1	0	26	107				
MCTP1	79772	broad.mit.edu	37	5	94619986	94619986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94619986G>A	ENST00000515393.1	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	98					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGCAGCACAGGTTGGGCTGCG	0.701																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(292-294)aaC>aaT		multiple C2 domains, transmembrane 1							20.0	23.0	22.0					5																	94619986		2152	4202	6354	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94619986G>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.294C>T	5.37:g.94619986G>A							p.N98N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	1	293	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	98					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.294C>T	CCDS34203.1																																																																																				0.701	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		61	222	0	0	0	1	0	61	222				
MAGEB16	139604	broad.mit.edu	37	X	35820969	35820969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820969G>A	ENST00000399989.1	+	2	935	c.656G>A	c.(655-657)cGt>cAt	p.R219H	MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	219	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGGCAACCGTGCCACTGAA	0.507																																						ENST00000399989.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(655-657)cGt>cAt		melanoma antigen family B, 16							87.0	83.0	84.0					X																	35820969		2188	4294	6482	SO:0001583	missense	139604							g.chrX:35820969G>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.656G>A	X.37:g.35820969G>A	ENSP00000382871:p.Arg219His					MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H	p.R219H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN			2	935	+			219			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.656G>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271307	0.10349	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	3.13	1.28	0.21552	.	1.580770	0.03543	N	0.224295	T	0.04452	0.0122	L	0.41236	1.265	0.23036	N	0.998394	B	0.29531	0.247	B	0.25291	0.059	T	0.42732	-0.9434	10	0.12766	T	0.61	.	3.3475	0.07141	0.1447:0.0:0.6028:0.2526	.	219	A2A368	MAGBG_HUMAN	H	219;251;219;219;219	ENSP00000382870:R219H;ENSP00000382874:R251H;ENSP00000382869:R219H;ENSP00000382871:R219H;ENSP00000382867:R219H	ENSP00000382867:R219H	R	+	2	0	MAGEB16	35730890	0.000000	0.05858	0.836000	0.33094	0.001000	0.01503	-0.306000	0.08178	0.225000	0.20959	-0.367000	0.07326	CGT		0.507	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			68	193	0	0	0	1	0	68	193				
ARRDC1	92714	broad.mit.edu	37	9	140508087	140508087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508087G>A	ENST00000371421.4	+	4	365	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	101						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CACGTCCTTTGAGGGTCCTTT	0.597																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(301-303)Gag>Aag		arrestin domain containing 1							120.0	106.0	110.0					9																	140508087		2203	4300	6503	SO:0001583	missense	92714							g.chr9:140508087G>A	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.301G>A	9.37:g.140508087G>A	ENSP00000360475:p.Glu101Lys					ARRDC1_ENST00000491911.1_3'UTR	p.E101K	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	4	365	+	all_cancers(76;0.106)		101						Missense_Mutation	SNP	ENST00000371421.4	37	c.301G>A	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	34	5.359037	0.95854	.	.	ENSG00000197070	ENST00000371421;ENST00000431925;ENST00000419386	T;T;T	0.17854	2.25;2.25;2.25	5.65	5.65	0.86999	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.095855	0.64402	D	0.000001	T	0.47078	0.1426	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.988	D;D;D	0.81914	0.914;0.995;0.936	T	0.46693	-0.9173	10	0.72032	D	0.01	-9.174	18.7737	0.91901	0.0:0.0:1.0:0.0	.	101;101;101	Q5T371;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	K	101	ENSP00000360475:E101K;ENSP00000406247:E101K;ENSP00000406833:E101K	ENSP00000360475:E101K	E	+	1	0	ARRDC1	139627908	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	9.052000	0.93855	2.684000	0.91462	0.555000	0.69702	GAG		0.597	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		84	356	0	0	0	1	0	84	356				
IGFALS	3483	broad.mit.edu	37	16	1841445	1841445	+	Missense_Mutation	SNP	C	C	T	rs200009743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1841445C>T	ENST00000215539.3	-	2	1084	c.974G>A	c.(973-975)cGc>cAc	p.R325H	IGFALS_ENST00000415638.3_Missense_Mutation_p.R363H			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	325					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCCGGATGCGGTTGTGGCC	0.667																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(1087-1089)cGc>cAc		insulin-like growth factor binding protein, acid labile subunit							27.0	30.0	29.0					16																	1841445		2197	4298	6495	SO:0001583	missense	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841445C>T	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.974G>A	16.37:g.1841445C>T	ENSP00000215539:p.Arg325His					IGFALS_ENST00000215539.3_Missense_Mutation_p.R325H	p.R363H	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	1167	-			325					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.1088G>A	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412083	0.25465	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.58210	0.35;0.35	5.37	3.02	0.34903	.	0.313999	0.31612	N	0.007360	T	0.59810	0.2221	L	0.58969	1.84	0.23950	N	0.996374	P;D	0.89917	0.768;1.0	B;D	0.70935	0.215;0.971	T	0.49123	-0.8972	10	0.15066	T	0.55	.	7.5217	0.27633	0.0:0.6865:0.1539:0.1596	.	363;325	E9PGU3;P35858	.;ALS_HUMAN	H	325;363	ENSP00000215539:R325H;ENSP00000416683:R363H	ENSP00000215539:R325H	R	-	2	0	IGFALS	1781446	0.933000	0.31639	0.851000	0.33527	0.523000	0.34469	1.883000	0.39658	1.238000	0.43771	0.561000	0.74099	CGC		0.667	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			28	132	0	0	0	1	0	28	132				
C10orf35	219738	broad.mit.edu	37	10	71392750	71392750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71392750C>T	ENST00000373279.4	+	4	460	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	101						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTCATGATGCTTGGTGTTCG	0.592																																						ENST00000373279.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(301-303)Ctt>Ttt		chromosome 10 open reading frame 35							205.0	154.0	171.0					10																	71392750		2203	4300	6503	SO:0001583	missense	219738					integral to membrane		g.chr10:71392750C>T	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.301C>T	10.37:g.71392750C>T	ENSP00000362376:p.Leu101Phe					C10orf35_ENST00000491890.1_3'UTR	p.L101F	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN			4	460	+			101						Missense_Mutation	SNP	ENST00000373279.4	37	c.301C>T	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448740	0.43531	.	.	ENSG00000171224	ENST00000373279	.	.	.	5.33	5.33	0.75918	.	0.109712	0.40640	N	0.001041	T	0.54886	0.1886	L	0.37800	1.135	0.34725	D	0.729148	D	0.61697	0.99	P	0.60068	0.868	T	0.56565	-0.7958	9	0.13108	T	0.6	-22.5095	12.2872	0.54798	0.0:0.8293:0.1707:0.0	.	101	Q96D05	CJ035_HUMAN	F	101	.	ENSP00000362376:L101F	L	+	1	0	C10orf35	71062756	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	3.426000	0.52778	2.502000	0.84385	0.561000	0.74099	CTT		0.592	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		88	527	0	0	0	1	0	88	527				
STAB1	23166	broad.mit.edu	37	3	52540865	52540865	+	Splice_Site	SNP	C	C	T	rs150932374		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52540865C>T	ENST00000321725.6	+	18	2064	c.1988C>T	c.(1987-1989)gCg>gTg	p.A663V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	663					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGATTGTGGCGGTGAGCCTC	0.647																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.e18+1		stabilin 1							59.0	53.0	55.0					3																	52540865		2203	4300	6503	SO:0001630	splice_region_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52540865C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1989+1C>T	3.37:g.52540865C>T							p.A663_splice	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	18	2064	+			663					A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37	c.1989_splice	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375587	0.24857	.	.	ENSG00000010327	ENST00000321725	D	0.84730	-1.89	4.43	-7.21	0.01490	.	1.696930	0.03084	N	0.158847	T	0.68668	0.3026	N	0.14661	0.345	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.08055	0.0;0.003	T	0.43861	-0.9365	10	0.13470	T	0.59	.	8.5153	0.33242	0.1101:0.2287:0.0:0.6612	.	663;663	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	663	ENSP00000312946:A663V	ENSP00000312946:A663V	A	+	2	0	STAB1	52515905	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-2.219000	0.01218	-1.598000	0.01607	-0.448000	0.05591	GCG		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Missense_Mutation	66	260	0	0	0	1	0	66	260				
KIAA0226	9711	broad.mit.edu	37	3	197431544	197431544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431544C>A	ENST00000296343.5	-	4	331	c.332G>T	c.(331-333)aGc>aTc	p.S111I	KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S51I|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	111	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATCAGCACTGCTCTGGTCGTT	0.587																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(151-153)aGc>aTc		KIAA0226							54.0	56.0	55.0					3																	197431544		2120	4253	6373	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197431544C>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.332G>T	3.37:g.197431544C>A	ENSP00000296343:p.Ser111Ile					KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I|KIAA0226_ENST00000296343.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I	p.S51I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	4	697	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		111			RUN.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.152G>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857056|1.857056	0.32791|0.32791	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43	5.95|5.95	1.15|1.15	0.20763|0.20763	.|RUN (2);	.|0.970843	.|0.08567	.|N	.|0.926613	T|T	0.30541|0.30541	0.0768|0.0768	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.55800	.|0.973;0.941;0.973	.|P;P;P	.|0.57846	.|0.828;0.735;0.828	T|T	0.28138|0.28138	-1.0053|-1.0053	5|10	.|0.52906	.|T	.|0.07	.|.	7.7581|7.7581	0.28936|0.28936	0.0:0.5565:0.2097:0.2338|0.0:0.5565:0.2097:0.2338	.|.	.|111;51;111	.|E9PEM3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	D|I	89|51;111;111;111	.|ENSP00000273582:S51I;ENSP00000296343:S111I;ENSP00000374316:S111I;ENSP00000390962:S111I	.|ENSP00000273582:S51I	E|S	-|-	3|2	2|0	KIAA0226|KIAA0226	198915941|198915941	0.021000|0.021000	0.18746|0.18746	0.375000|0.375000	0.26029|0.26029	0.243000|0.243000	0.25628|0.25628	0.065000|0.065000	0.14466|0.14466	0.276000|0.276000	0.22118|0.22118	-0.189000|-0.189000	0.12847|0.12847	GAG|AGC		0.587	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		44	230	1	0	1.22674e-20	1	1.37621e-20	44	230				
EXO1	9156	broad.mit.edu	37	1	242052841	242052841	+	Missense_Mutation	SNP	C	C	T	rs145975455	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242052841C>T	ENST00000366548.3	+	16	3073	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.A827V	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	827	Interaction with MLH1.|Interaction with MSH2.		A -> V. {ECO:0000269|PubMed:12517792}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACTCCAGAAGCGGAAGAGGAT	0.403								Editing and processing nucleases					C|||	2	0.000399361	0.0	0.0029	5008	,	,		17194	0.0		0.0	False		,,,				2504	0.0					ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(2479-2481)gCg>gTg	Editing and processing nucleases	exonuclease 1		C	,VAL/ALA,VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	94.0	96.0	95.0		,2480,2480	4.4	0.1	1	dbSNP_134	95	5,8595	4.3+/-15.6	0,5,4295	yes	utr-3,missense,missense	EXO1	NM_003686.4,NM_006027.4,NM_130398.3	,64,64	0,11,6492	TT,TC,CC		0.0581,0.1362,0.0846	,benign,benign	,827/847,827/847	242052841	11,12995	2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242052841C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2480C>T	1.37:g.242052841C>T	ENSP00000355506:p.Ala827Val					EXO1_ENST00000348581.5_Missense_Mutation_p.A827V|EXO1_ENST00000518483.1_3'UTR	p.A827V	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		16	3073	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	827		A -> V.	Interaction with MLH1.|Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2480C>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801986	0.50315	0.001362	5.81E-4	ENSG00000174371	ENST00000366548;ENST00000348581	T;T	0.60424	0.19;0.19	5.32	4.4	0.53042	.	0.631895	0.15778	N	0.245083	T	0.47985	0.1475	L	0.47716	1.5	0.09310	N	1	B;B	0.31837	0.342;0.342	B;B	0.22753	0.041;0.028	T	0.41197	-0.9522	10	0.49607	T	0.09	-9.9203	11.4966	0.50413	0.0:0.9136:0.0:0.0864	.	826;827	A8K5H6;Q9UQ84	.;EXO1_HUMAN	V	827	ENSP00000355506:A827V;ENSP00000311873:A827V	ENSP00000311873:A827V	A	+	2	0	EXO1	240119464	0.976000	0.34144	0.064000	0.19789	0.957000	0.61999	2.821000	0.48065	1.204000	0.43247	0.655000	0.94253	GCG		0.403	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		15	600	0	0	0	1	0	15	600				
KDM2B	84678	broad.mit.edu	37	12	121880308	121880308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880308C>T	ENST00000377071.4	-	19	3008	c.2936G>A	c.(2935-2937)aGc>aAc	p.S979N	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N|KDM2B_ENST00000377069.4_Missense_Mutation_p.S910N	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	979					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCGCCCTCGCTCTCAGGCTC	0.677																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2728-2730)aGc>aAc		lysine (K)-specific demethylase 2B							27.0	32.0	30.0					12																	121880308		2129	4242	6371	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880308C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2936G>A	12.37:g.121880308C>T	ENSP00000366271:p.Ser979Asn					KDM2B_ENST00000377071.4_Missense_Mutation_p.S979N|KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N|KDM2B_ENST00000536437.1_Intron	p.S910N	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3135	-			979					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2729G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458903	0.43634	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.24538	2.15;2.43;1.85	5.62	4.73	0.59995	.	1.126930	0.06412	N	0.720756	T	0.32823	0.0842	L	0.59436	1.845	0.80722	D	1	B;B;B;B	0.10296	0.0;0.003;0.001;0.001	B;B;B;B	0.10450	0.002;0.005;0.002;0.002	T	0.03555	-1.1025	10	0.44086	T	0.13	-15.1863	14.2533	0.66035	0.0:0.9285:0.0:0.0715	.	419;979;910;422	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	N	967;347;910;979;422;982	ENSP00000437821:S347N;ENSP00000366269:S910N;ENSP00000366271:S979N	ENSP00000261824:S982N	S	-	2	0	KDM2B	120364691	0.998000	0.40836	0.882000	0.34594	0.079000	0.17450	3.786000	0.55431	1.371000	0.46172	0.655000	0.94253	AGC		0.677	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		8	219	0	0	0	1	0	8	219				
XPNPEP2	7512	broad.mit.edu	37	X	128880624	128880624	+	Missense_Mutation	SNP	C	C	T	rs199567476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128880624C>T	ENST00000371106.3	+	6	649	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R153C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	153						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGAGGGCGTGTGGGTTT	0.522																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(457-459)Cgt>Tgt		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							270.0	243.0	252.0					X																	128880624		2203	4299	6502	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128880624C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.457C>T	X.37:g.128880624C>T	ENSP00000360147:p.Arg153Cys					XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R153C	p.R153C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			6	649	+			153					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.457C>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464311	0.43736	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	T	0.75938	-0.98	5.57	-1.49	0.08718	Creatinase (1);	1.196100	0.05649	N	0.584917	T	0.72898	0.3518	L	0.46947	1.48	0.09310	N	1	P;D	0.62365	0.883;0.991	B;P	0.54100	0.209;0.742	T	0.60393	-0.7272	10	0.52906	T	0.07	-10.3433	3.1445	0.06467	0.3281:0.4451:0.1041:0.1227	.	153;153	B4DV70;O43895	.;XPP2_HUMAN	C	153	ENSP00000360147:R153C	ENSP00000360146:R153C	R	+	1	0	XPNPEP2	128708305	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.091000	0.11146	-0.347000	0.08299	-1.916000	0.00518	CGT		0.522	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		15	731	0	0	0	1	0	15	731				
CYP2S1	29785	broad.mit.edu	37	19	41704625	41704625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704625G>A	ENST00000310054.4	+	5	882	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	222					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCTACGAGATGTTCTCCTGGT	0.627																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(664-666)atG>atA		cytochrome P450, family 2, subfamily S, polypeptide 1							92.0	79.0	83.0					19																	41704625		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704625G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.666G>A	19.37:g.41704625G>A	ENSP00000308032:p.Met222Ile					CYP2S1_ENST00000542619.1_Intron	p.M222I	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			5	882	+			222					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.666G>A	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	11.61	1.689696	0.29962	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.01240	5.12	5.19	5.19	0.71726	.	0.210189	0.41001	U	0.000962	T	0.01254	0.0041	N	0.25647	0.755	0.80722	D	1	B	0.29909	0.261	B	0.26517	0.07	T	0.65919	-0.6051	10	0.17369	T	0.5	.	9.7964	0.40737	0.0946:0.0:0.9054:0.0	.	222	Q96SQ9	CP2S1_HUMAN	I	222	ENSP00000308032:M222I	ENSP00000301173:M222I	M	+	3	0	CYP2S1	46396465	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	1.774000	0.38573	2.419000	0.82065	0.461000	0.40582	ATG		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			28	614	0	0	0	1	0	28	614				
SRC	6714	broad.mit.edu	37	20	36030016	36030016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36030016G>A	ENST00000373578.2	+	11	1400	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_Missense_Mutation_p.D351N|SRC_ENST00000358208.4_Missense_Mutation_p.D351N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	GAGTTTGCTGGACTTTCTCAA	0.632																																						ENST00000373578.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1051-1053)Gac>Aac		v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	Dasatinib(DB01254)						87.0	78.0	81.0					20																	36030016		2203	4300	6503	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36030016G>A	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1051G>A	20.37:g.36030016G>A	ENSP00000362680:p.Asp351Asn					SRC_ENST00000477066.1_3'UTR|SRC_ENST00000358208.4_Missense_Mutation_p.D351N|SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N|SRC_ENST00000445403.1_Missense_Mutation_p.D351N	p.D351N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN			11	1400	+		Myeloproliferative disorder(115;0.00878)	351			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.1051G>A	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209156	0.79240	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	N	0.21142	0.635	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.06409	-1.0828	10	0.72032	D	0.01	.	15.7693	0.78152	0.0:0.0:1.0:0.0	.	351	P12931	SRC_HUMAN	N	351;351;357;351;351;357	ENSP00000408503:D351N;ENSP00000362680:D351N;ENSP00000353950:D357N;ENSP00000350941:D351N;ENSP00000362668:D351N;ENSP00000362659:D357N	ENSP00000350941:D351N	D	+	1	0	SRC	35463430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.487000	0.97945	2.565000	0.86533	0.655000	0.94253	GAC		0.632	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		57	341	0	0	0	1	0	57	341				
LRP5	4041	broad.mit.edu	37	11	68206126	68206126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68206126G>A	ENST00000294304.7	+	20	4430	c.4324G>A	c.(4324-4326)Ggt>Agt	p.G1442S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1442					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCCCGGGCGGTTCCCAGCA	0.642																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4324-4326)Ggt>Agt		low density lipoprotein receptor-related protein 5							23.0	23.0	23.0					11																	68206126		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68206126G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4324G>A	11.37:g.68206126G>A	ENSP00000294304:p.Gly1442Ser						p.G1442S	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			20	4430	+			1442					Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4324G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424492	0.01126	.	.	ENSG00000162337	ENST00000294304	D	0.92911	-3.13	4.53	1.35	0.21983	.	0.238461	0.27306	N	0.019977	T	0.69548	0.3123	N	0.01048	-1.04	0.23708	N	0.997051	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.63166	-0.6698	10	0.06757	T	0.87	.	5.4872	0.16757	0.5554:0.0:0.4446:0.0	.	1442;1442	Q9UES7;O75197	.;LRP5_HUMAN	S	1442	ENSP00000294304:G1442S	ENSP00000294304:G1442S	G	+	1	0	LRP5	67962702	0.249000	0.23941	0.042000	0.18584	0.104000	0.19210	1.543000	0.36147	0.538000	0.28769	0.585000	0.79938	GGT		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		31	120	0	0	0	1	0	31	120				
GDPD3	79153	broad.mit.edu	37	16	30116209	30116209	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30116209G>T	ENST00000406256.3	-	10	1318	c.941C>A	c.(940-942)gCt>gAt	p.A314D	RP11-455F5.4_ENST00000566190.1_RNA|RP11-455F5.3_ENST00000515455.2_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	314					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTCCGGGCAGCTGGTCCATG	0.532																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(940-942)gCt>gAt		glycerophosphodiester phosphodiesterase domain containing 3							81.0	82.0	82.0					16																	30116209		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30116209G>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.941C>A	16.37:g.30116209G>T	ENSP00000384363:p.Ala314Asp						p.A314D	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			10	1318	-			314					Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.941C>A	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487391	0.26686	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	.	.	.	4.13	-0.602	0.11634	.	1.727610	0.04224	N	0.334052	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09997	-1.0649	9	0.12430	T	0.62	.	3.0282	0.06098	0.1015:0.3404:0.395:0.1631	.	314	Q7L5L3	GDPD3_HUMAN	D	314;252	.	ENSP00000353909:A252D	A	-	2	0	GDPD3	30023710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-0.142000	0.11354	0.561000	0.74099	GCT		0.532	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		61	251	1	0	2.81305e-35	1	3.35631e-35	61	251				
CACNA1C	775	broad.mit.edu	37	12	2760913	2760913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2760913G>A	ENST00000347598.4	+	34	4197	c.4197G>A	c.(4195-4197)tgG>tgA	p.W1399*	CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1399					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTGCTGTGGACCTTCATCA	0.632																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4051-4053)tgG>tgA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						44.0	53.0	50.0					12																	2760913		2195	4295	6490	SO:0001587	stop_gained	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2760913G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4197G>A	12.37:g.2760913G>A	ENSP00000266376:p.Trp1399*					CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W1399*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*	p.W1351*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	32	4318	+			1399					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	37	c.4053G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	42	9.355789	0.99147	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.17	4.27	0.50696	.	0.125129	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5755	0.61873	0.0758:0.0:0.9242:0.0	.	.	.	.	X	1376;1351;1351;1379;1351;1351;1351;1340;1351;1399;1371;1351;1373;1368;1351;1338;1351;1351;1351;1351;1351;1340;1181	.	ENSP00000323129:W1181X	W	+	3	0	CACNA1C	2631174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.805000	0.99149	1.171000	0.42768	0.491000	0.48974	TGG		0.632	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		20	199	0	0	0	1	0	20	199				
CASZ1	54897	broad.mit.edu	37	1	10699493	10699493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10699493C>T	ENST00000377022.3	-	21	5103	c.4786G>A	c.(4786-4788)Gag>Aag	p.E1596K	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1596					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCCTGCTTCTCGTGCTTGCGC	0.701																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4786-4788)Gag>Aag		castor zinc finger 1							14.0	18.0	17.0					1																	10699493		1970	4146	6116	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699493C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4786G>A	1.37:g.10699493C>T	ENSP00000366221:p.Glu1596Lys					RP4-734G22.3_ENST00000606802.1_RNA	p.E1596K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5103	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1596					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4786G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625625	0.46840	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.1	3.17	0.36434	.	0.000000	0.44285	U	0.000477	T	0.31451	0.0797	N	0.24115	0.695	0.80722	D	1	D	0.55172	0.97	B	0.39805	0.31	T	0.08973	-1.0696	9	0.46703	T	0.11	-3.7018	12.0567	0.53540	0.0:0.9135:0.0:0.0865	.	1596	Q86V15	CASZ1_HUMAN	K	1596	.	ENSP00000366221:E1596K	E	-	1	0	CASZ1	10622080	1.000000	0.71417	0.966000	0.40874	0.389000	0.30415	5.532000	0.67154	0.835000	0.34877	0.195000	0.17529	GAG		0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		7	52	0	0	0	1	0	7	52				
JMJD1C	221037	broad.mit.edu	37	10	64968149	64968149	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968149A>G	ENST00000399262.2	-	10	3498	c.3280T>C	c.(3280-3282)Ttc>Ctc	p.F1094L	JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1094					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGTAGTGAAATAGTTACTT	0.373																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3280-3282)Ttc>Ctc		jumonji domain containing 1C							194.0	184.0	187.0					10																	64968149		1879	4098	5977	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968149A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3280T>C	10.37:g.64968149A>G	ENSP00000382204:p.Phe1094Leu					JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L	p.F1094L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3498	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1094					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3280T>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124391	0.77436	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.64085	0.27;-0.08;1.75;0.27	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.62723	1.935	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.58970	0.804;0.849;0.849	T	0.76987	-0.2755	10	0.72032	D	0.01	-8.319	15.7575	0.78046	1.0:0.0:0.0:0.0	.	635;1094;912	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	L	1094;875;875;912	ENSP00000382204:F1094L;ENSP00000384990:F875L;ENSP00000382195:F875L;ENSP00000444682:F912L	ENSP00000382195:F875L	F	-	1	0	JMJD1C	64638155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.118000	0.64928	0.460000	0.39030	TTC		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		206	787	0	0	0	1	0	206	787				
GLIS2	84662	broad.mit.edu	37	16	4382440	4382440	+	Silent	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4382440C>G	ENST00000262366.3	+	3	980	c.159C>G	c.(157-159)ggC>ggG	p.G53G	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.G53G			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	53	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCTCTCCAGGCTCCCCGCCCT	0.652																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(157-159)ggC>ggG		GLIS family zinc finger 2							23.0	24.0	24.0					16																	4382440		2193	4295	6488	SO:0001819	synonymous_variant	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4382440C>G	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.159C>G	16.37:g.4382440C>G						PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.G53G	p.G53G			Q9BZE0	GLIS2_HUMAN			3	980	+			53			Interaction with CTNND1 (By similarity).		B3KX84	Silent	SNP	ENST00000262366.3	37	c.159C>G	CCDS10511.1																																																																																				0.652	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		34	104	0	0	0	1	0	34	104				
DGCR2	9993	broad.mit.edu	37	22	19076975	19076975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19076975C>T	ENST00000263196.7	-	2	355	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DGCR2_ENST00000545799.1_Silent_p.A36A|DGCR2_ENST00000537045.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	36	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCTGCGACACGCAAACTGCC	0.622																																						ENST00000545799.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(106-108)gcG>gcA		DiGeorge syndrome critical region gene 2							72.0	57.0	62.0					22																	19076975		2203	4300	6503	SO:0001819	synonymous_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19076975C>T	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.108G>A	22.37:g.19076975C>T						DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000263196.7_Silent_p.A36A	p.A36A			P98153	IDD_HUMAN			2	308	-	Colorectal(54;0.0993)		36			LDL-receptor class A.		A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	c.108G>A	CCDS33598.1																																																																																				0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		65	233	0	0	0	1	0	65	233				
TOM1L2	146691	broad.mit.edu	37	17	17764838	17764838	+	Silent	SNP	G	G	A	rs117929409		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17764838G>A	ENST00000379504.3	-	12	1313	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000478943.1_Silent_p.V143V|TOM1L2_ENST00000542206.1_Silent_p.V262V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000581396.1_Silent_p.V360V|TOM1L2_ENST00000535933.1_Silent_p.V357V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	410					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAAGTCCTCCGACAGCCTGAG	0.507																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(1078-1080)gtC>gtT		target of myb1-like 2 (chicken)							87.0	81.0	83.0					17																	17764838		2203	4300	6503	SO:0001819	synonymous_variant	146691				intracellular protein transport	intracellular		g.chr17:17764838G>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1230C>T	17.37:g.17764838G>A						TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000535933.1_Silent_p.V357V|TOM1L2_ENST00000379504.3_Silent_p.V410V|TOM1L2_ENST00000478943.1_Silent_p.V143V|TOM1L2_ENST00000542206.1_Silent_p.V262V	p.V360V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			11	1176	-	all_neural(463;0.228)		410					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	c.1080C>T	CCDS42270.1																																																																																				0.507	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			20	216	0	0	0	1	0	20	216				
NPAS1	4861	broad.mit.edu	37	19	47542776	47542776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47542776G>A	ENST00000602212.1	+	8	1136	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I|NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I|NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	306	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		ACACATGATCGTCTTCCGTCT	0.672																																						ENST00000602212.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(916-918)Gtc>Atc		neuronal PAS domain protein 1							34.0	33.0	33.0					19																	47542776		2203	4294	6497	SO:0001583	missense	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47542776G>A	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.916G>A	19.37:g.47542776G>A	ENSP00000469142:p.Val306Ile					NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I|NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I|NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I	p.V306I			Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	8	1136	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	306			PAS 2.		B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	ENST00000602212.1	37	c.916G>A	CCDS12694.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744551	0.89663	.	.	ENSG00000130751	ENST00000449844;ENST00000439365	T;T	0.29917	2.33;1.55	4.56	4.56	0.56223	PAS (1);	0.000000	0.64402	D	0.000009	T	0.45115	0.1326	L	0.41356	1.27	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;P	0.75484	0.986;0.891	T	0.41520	-0.9504	10	0.66056	D	0.02	.	12.8213	0.57694	0.0:0.0:1.0:0.0	.	130;306	B4DR69;Q99742	.;NPAS1_HUMAN	I	306;130	ENSP00000405290:V306I;ENSP00000398689:V130I	ENSP00000398689:V130I	V	+	1	0	NPAS1	52234616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.388000	0.73195	2.097000	0.63578	0.561000	0.74099	GTC		0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		71	245	0	0	0	1	0	71	245				
RP11-24M17.5	0	broad.mit.edu	37	15	76075187	76075187	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76075187G>T	ENST00000395215.3	+	0	827				RN7SL319P_ENST00000480656.2_RNA																							GGCACCCCCAGCAGTGACCTC	0.552																																						ENST00000395215.3																			0																																																			0							g.chr15:76075187G>T																													15.37:g.76075187G>T														0	827	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	2.021	-0.424665	0.04734	.	.	ENSG00000187812	ENST00000395215	.	.	.	.	.	.	.	.	.	.	.	T	0.48857	0.1523	.	.	.	.	.	.	D	0.53462	0.96	P	0.50570	0.644	T	0.58736	-0.7584	5	0.87932	D	0	.	6.5802	0.22589	2.0E-4:0.0:0.9998:0.0	.	262	B4DZE6	.	H	262	.	ENSP00000378641:Q262H	Q	+	3	2	AC019294.2	73862242	0.007000	0.16637	0.039000	0.18376	0.119000	0.20118	1.587000	0.36622	0.458000	0.26988	0.152000	0.16155	CAG		0.552	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			43	220	1	0	2.26627e-22	1	2.56399e-22	43	220				
TTN	7273	broad.mit.edu	37	2	179430453	179430453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430453C>A	ENST00000591111.1	-	276	75707	c.75483G>T	c.(75481-75483)gaG>gaT	p.E25161D	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26802D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25161	Fibronectin type-III 83. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTTCAGGTTTCTCCCACATAA	0.493																																						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.(80404-80406)gaG>gaT		titin							186.0	178.0	180.0					2																	179430453		1997	4177	6174	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430453C>A	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.75483G>T	2.37:g.179430453C>A	ENSP00000465570:p.Glu25161Asp					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25161D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.E26802D	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)		326	80630	-			25161					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.80406G>T		.	.	.	.	.	.	.	.	.	.	C	9.529	1.110340	0.20714	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.72	3.9	0.45041	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39279	0.1072	L	0.37850	1.14	0.40100	D	0.976354	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.31308	-0.9948	9	0.87932	D	0	.	5.4379	0.16492	0.1388:0.6031:0.0:0.2582	.	17737;17862;17929;25161	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	24234;17737;17929;17862;17735	ENSP00000343764:E24234D;ENSP00000434586:E17737D;ENSP00000340554:E17929D;ENSP00000352154:E17862D	ENSP00000340554:E17929D	E	-	3	2	TTN	179138699	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.217000	0.17603	0.747000	0.32809	0.484000	0.47621	GAG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		280	691	1	0	2.54815e-128	1	3.28172e-128	280	691				
TMEM110	375346	broad.mit.edu	37	3	52877754	52877754	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877754C>T	ENST00000355083.5	-	6	746	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V201I|TMEM110_ENST00000464769.1_5'Flank	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	201						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		AAGAAGGGGACGATCAGCATG	0.507																																						ENST00000355083.5																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(601-603)Gtc>Atc		transmembrane protein 110							190.0	167.0	175.0					3																	52877754		2203	4300	6503	SO:0001583	missense	375346							g.chr3:52877754C>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.601G>A	3.37:g.52877754C>T	ENSP00000347195:p.Val201Ile					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V201I	p.V201I	NM_198563.2	NP_940965.1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	6	746	-									Missense_Mutation	SNP	ENST00000355083.5	37	c.601G>A	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473451	0.84640	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	5.31	0.75309	.	0.145281	0.45126	U	0.000381	T	0.66790	0.2825	L	0.39692	1.235	0.80722	D	1	P;D	0.76494	0.797;0.999	B;D	0.79784	0.194;0.993	T	0.58752	-0.7581	9	0.09843	T	0.71	-14.7227	18.9788	0.92747	0.0:1.0:0.0:0.0	.	201;201	Q86TL2;A8MSY1	TM110_HUMAN;.	I	201	.	ENSP00000347195:V201I	V	-	1	0	TMEM110-MUSTN1;TMEM110	52852794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.491000	0.84063	0.561000	0.74099	GTC		0.507	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		10	433	0	0	0	1	0	10	433				
TMEM164	84187	broad.mit.edu	37	X	109416479	109416479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109416479G>A	ENST00000372073.1	+	7	1030	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K|TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|TMEM164_ENST00000464177.1_3'UTR			Q5U3C3	TM164_HUMAN	transmembrane protein 164	232						integral component of membrane (GO:0016021)		p.E193K(1)|p.E232K(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCAGGTCACCGAAGTGAATTT	0.547																																						ENST00000372073.1																			2	Substitution - Missense(2)	p.E193K(1)|p.E232K(1)	large_intestine(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(694-696)Gaa>Aaa		transmembrane protein 164							116.0	88.0	97.0					X																	109416479		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109416479G>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.694G>A	X.37:g.109416479G>A	ENSP00000361143:p.Glu232Lys					TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K|TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K	p.E232K			Q5U3C3	TM164_HUMAN			7	1030	+			232					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.694G>A	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	g	15.35	2.807907	0.50421	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.52	5.52	0.82312	.	0.045262	0.85682	N	0.000000	T	0.37517	0.1006	L	0.49350	1.555	0.80722	D	1	P;P	0.47545	0.897;0.584	B;B	0.35114	0.196;0.064	T	0.33292	-0.9874	10	0.41790	T	0.15	-3.7445	18.5819	0.91174	0.0:0.0:1.0:0.0	.	193;232	Q9H617;Q5U3C3	.;TM164_HUMAN	K	83;232;232;193;193	ENSP00000384075:E83K;ENSP00000361143:E232K;ENSP00000361138:E232K;ENSP00000288381:E193K	ENSP00000288381:E193K	E	+	1	0	TMEM164	109303135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.331000	0.79229	0.525000	0.51046	GAA		0.547	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		83	296	0	0	0	1	0	83	296				
TRIP10	9322	broad.mit.edu	37	19	6751225	6751225	+	3'UTR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751225C>A	ENST00000313244.9	+	0	1844				TRIP10_ENST00000596758.1_Missense_Mutation_p.P557H|TRIP10_ENST00000313285.8_3'UTR|TRIP10_ENST00000600428.1_3'UTR|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10						actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCAATTGAACCCTGCCAGAGA	0.637																																						ENST00000596758.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(1669-1671)cCc>cAc		thyroid hormone receptor interactor 10							53.0	60.0	58.0					19																	6751225		2203	4300	6503	SO:0001624	3_prime_UTR_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6751225C>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.*3C>A	19.37:g.6751225C>A						CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_3'UTR|TRIP10_ENST00000313244.9_3'UTR|TRIP10_ENST00000600428.1_3'UTR	p.P557H			Q15642	CIP4_HUMAN			14	1670	+			581			Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1670C>A		.	.	.	.	.	.	.	.	.	.	C	3.160	-0.172245	0.06421	.	.	ENSG00000125733	ENST00000420690	.	.	.	4.29	3.25	0.37280	.	.	.	.	.	T	0.55305	0.1912	.	.	.	0.40025	D	0.975469	D	0.58268	0.982	P	0.50490	0.642	T	0.60161	-0.7317	7	0.87932	D	0	.	8.1579	0.31180	0.0:0.8893:0.0:0.1107	.	557	G5E9U1	.	H	557	.	ENSP00000415493:P557H	P	+	2	0	TRIP10	6702225	0.150000	0.22732	0.487000	0.27428	0.191000	0.23601	0.349000	0.20055	1.182000	0.42928	0.305000	0.20034	CCC		0.637	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			94	485	1	0	7.79919e-48	1	9.60998e-48	94	485				
LEF1	51176	broad.mit.edu	37	4	109010379	109010379	+	Missense_Mutation	SNP	G	G	A	rs199515145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109010379G>A	ENST00000265165.1	-	4	1103	c.449C>T	c.(448-450)gCg>gTg	p.A150V	LEF1_ENST00000438313.2_Missense_Mutation_p.A150V|LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000510624.1_Missense_Mutation_p.A82V|LEF1_ENST00000379951.2_Missense_Mutation_p.A150V	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	150	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGATGGACCGCATGGGATGG	0.493																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(448-450)gCg>gTg		lymphoid enhancer-binding factor 1		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	122.0	110.0	114.0		449,449,245,449	5.0	0.6	4		114	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	LEF1	NM_001130713.2,NM_001130714.2,NM_001166119.1,NM_016269.4	64,64,64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	150/372,150/387,82/304,150/400	109010379	2,13004	2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109010379G>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.449C>T	4.37:g.109010379G>A	ENSP00000265165:p.Ala150Val					LEF1_ENST00000510624.1_Missense_Mutation_p.A82V|LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000265165.1_Missense_Mutation_p.A150V|LEF1_ENST00000438313.2_Missense_Mutation_p.A150V	p.A150V	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	4	1637	-			150			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.449C>T	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276371	0.59649	0.0	2.33E-4	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99150	-5.49;-5.48;-5.49;-5.47	5.87	5.03	0.67393	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	L	0.50333	1.59	0.52099	D	0.999948	P;D;B;D;P	0.76494	0.904;0.999;0.003;0.994;0.781	B;D;B;P;B	0.77004	0.231;0.989;0.001;0.847;0.183	D	0.99201	1.0873	10	0.20519	T	0.43	-1.1134	14.9854	0.71345	0.0681:0.0:0.9319:0.0	.	82;35;150;150;150	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	V	150;150;150;82;82;82	ENSP00000265165:A150V;ENSP00000369284:A150V;ENSP00000406176:A150V;ENSP00000422840:A82V	ENSP00000265165:A150V	A	-	2	0	LEF1	109229828	1.000000	0.71417	0.589000	0.28718	0.656000	0.38851	5.476000	0.66793	1.501000	0.48654	-0.229000	0.12294	GCG		0.493	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			63	296	0	0	0	1	0	63	296				
C10orf120	399814	broad.mit.edu	37	10	124457633	124457633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457633G>A	ENST00000329446.4	-	3	655	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	208										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCTTTCGTCTGGCCTTATTTT	0.448																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(622-624)gcC>gcT		chromosome 10 open reading frame 120							120.0	100.0	107.0					10																	124457633		2203	4300	6503	SO:0001819	synonymous_variant	399814							g.chr10:124457633G>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.624C>T	10.37:g.124457633G>A							p.A208A	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	655	-		all_neural(114;0.169)|Glioma(114;0.222)	208					B2RU17	Silent	SNP	ENST00000329446.4	37	c.624C>T	CCDS31302.1																																																																																				0.448	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		49	214	0	0	0	1	0	49	214				
GPR98	84059	broad.mit.edu	37	5	89939798	89939798	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89939798G>T	ENST00000405460.2	+	14	2828	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	911	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTATCTATAGTGGTAATTTA	0.274																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2731-2733)aGt>aTt		G protein-coupled receptor 98							107.0	101.0	103.0					5																	89939798		1825	4080	5905	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89939798G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2732G>T	5.37:g.89939798G>T	ENSP00000384582:p.Ser911Ile						p.S911I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	14	2828	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	911					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2732G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.146701|2.146701	0.37923|0.37923	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.27557|.	1.66|.	5.35|5.35	2.46|2.46	0.29980|0.29980	Na-Ca exchanger/integrin-beta4 (1);|.	0.900278|.	0.09866|.	N|.	0.745581|.	T|.	0.33933|.	0.0880|.	L|L	0.39514|0.39514	1.22|1.22	0.09310|0.09310	N|N	1|1	P|.	0.40000|.	0.698|.	B|.	0.37888|.	0.26|.	T|.	0.21518|.	-1.0243|.	10|.	0.54805|.	T|.	0.06|.	.|.	5.3234|5.3234	0.15893|0.15893	0.3069:0.2793:0.4138:0.0|0.3069:0.2793:0.4138:0.0	.|.	911|.	Q8WXG9|.	GPR98_HUMAN|.	I|Y	911|499	ENSP00000384582:S911I|.	ENSP00000296619:S911I|.	S|X	+|+	2|3	0|2	GPR98|GPR98	89975554|89975554	0.527000|0.527000	0.26306|0.26306	0.390000|0.390000	0.26220|0.26220	0.262000|0.262000	0.26303|0.26303	1.118000|1.118000	0.31246|0.31246	0.615000|0.615000	0.30124|0.30124	0.655000|0.655000	0.94253|0.94253	AGT|TAG		0.274	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	116	1	0	5.9392e-07	1	6.14895e-07	6	116				
HECW1	23072	broad.mit.edu	37	7	43483972	43483972	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43483972G>C	ENST00000395891.2	+	11	1806	c.1201G>C	c.(1201-1203)Gtc>Ctc	p.V401L	HECW1_ENST00000453890.1_Missense_Mutation_p.V401L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	401					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGAGGGCAGTGTCCCCGATGG	0.602																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1201-1203)Gtc>Ctc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							46.0	50.0	49.0					7																	43483972		2100	4229	6329	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43483972G>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1201G>C	7.37:g.43483972G>C	ENSP00000379228:p.Val401Leu					HECW1_ENST00000453890.1_Missense_Mutation_p.V401L	p.V401L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	1806	+			401					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1201G>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	5.891	0.348572	0.11126	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.29142	1.58;1.58	5.4	1.27	0.21489	.	8.972470	0.00166	N	0.000000	T	0.18635	0.0447	N	0.22421	0.69	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.11329	0.006;0.002	T	0.12451	-1.0547	10	0.09084	T	0.74	.	2.8098	0.05438	0.1378:0.1234:0.4846:0.2543	.	401;401	B4DH42;Q76N89	.;HECW1_HUMAN	L	401	ENSP00000379228:V401L;ENSP00000407774:V401L	ENSP00000265522:V401L	V	+	1	0	HECW1	43450497	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.366000	0.20365	0.331000	0.23511	-0.182000	0.12963	GTC		0.602	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		44	227	0	0	0	1	0	44	227				
KCNH3	23416	broad.mit.edu	37	12	49942692	49942692	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942692C>A	ENST00000257981.6	+	8	1464	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	402					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTGCAGGAGCTGGCCCGCCG	0.692																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1204-1206)Ctg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 3							7.0	8.0	8.0					12																	49942692		2153	4223	6376	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49942692C>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1204C>A	12.37:g.49942692C>A	ENSP00000257981:p.Leu402Met						p.L402M	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			8	1464	+			402					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1204C>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585537	0.66105	.	.	ENSG00000135519	ENST00000257981	D	0.99121	-5.45	4.52	1.7	0.24286	Ion transport (1);	0.000000	0.36268	N	0.002700	D	0.98858	0.9614	M	0.75264	2.295	0.33444	D	0.582831	D	0.89917	1.0	D	0.87578	0.998	D	0.98991	1.0808	10	0.87932	D	0	.	8.0473	0.30557	0.0:0.7158:0.0:0.2842	.	402	Q9ULD8	KCNH3_HUMAN	M	402	ENSP00000257981:L402M	ENSP00000257981:L402M	L	+	1	2	KCNH3	48228959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.467000	0.45093	0.657000	0.30906	0.650000	0.86243	CTG		0.692	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		13	42	1	0	5.50884e-06	1	5.65664e-06	13	42				
RAD51C	5889	broad.mit.edu	37	17	56811478	56811478	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56811478G>T	ENST00000337432.4	+	9	1097		c.e9-1			NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C						blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTATCTTTCAGCCTCAGGGAT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													ENST00000337432.4																			0				upper_aerodigestive_tract(1)	1						c.e9-1	Homologous recombination	RAD51 paralog C							36.0	36.0	36.0					17																	56811478		2203	4299	6502	SO:0001630	splice_region_variant	5889	Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56811478G>T	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.1027-1G>T	17.37:g.56811478G>T								NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN			9	1097	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)							O43503|Q3B783	Splice_Site	SNP	ENST00000337432.4	37		CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685825	0.47991	.	.	ENSG00000108384	ENST00000337432;ENST00000413590	.	.	.	4.88	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2265	0.37410	0.0982:0.0:0.9018:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD51C	54166477	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	3.795000	0.55499	1.435000	0.47434	0.563000	0.77884	.		0.338	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216	Intron	12	71	1	0	1.08611e-07	1	1.12939e-07	12	71				
ABCD3	5825	broad.mit.edu	37	1	94965137	94965137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94965137C>T	ENST00000370214.4	+	20	1731	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	ABCD3_ENST00000454898.2_Silent_p.D593D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.D496D|ABCD3_ENST00000394233.2_Silent_p.D459D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	569	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTGGATGGACGTACTCAGTG	0.438																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1705-1707)gaC>gaT		ATP-binding cassette, sub-family D (ALD), member 3							178.0	147.0	157.0					1																	94965137		2203	4300	6503	SO:0001819	synonymous_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94965137C>T	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1707C>T	1.37:g.94965137C>T						ABCD3_ENST00000536817.1_Silent_p.D496D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Silent_p.D459D|ABCD3_ENST00000454898.2_Silent_p.D593D	p.D569D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	20	1731	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	569			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.1707C>T	CCDS749.1																																																																																				0.438	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		45	334	0	0	0	1	0	45	334				
USP15	9958	broad.mit.edu	37	12	62777738	62777738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62777738C>T	ENST00000280377.5	+	10	1265	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	USP15_ENST00000353364.3_Missense_Mutation_p.P374S|USP15_ENST00000393654.3_Missense_Mutation_p.P378S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	403	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGGAAAAAACCATATATACA	0.338																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1207-1209)Cca>Tca		ubiquitin specific peptidase 15							74.0	75.0	75.0					12																	62777738		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777738C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1207C>T	12.37:g.62777738C>T	ENSP00000280377:p.Pro403Ser					USP15_ENST00000393654.3_Missense_Mutation_p.P378S|USP15_ENST00000353364.3_Missense_Mutation_p.P374S	p.P403S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1265	+			403					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1207C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270563	0.80469	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.29655	4.18;4.18;1.56	5.4	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.055071	0.85682	D	0.000000	T	0.54631	0.1870	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.57081	-0.7872	9	.	.	.	-8.9265	15.6864	0.77415	0.1379:0.8621:0.0:0.0	.	403;374	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	374;403;378	ENSP00000258123:P374S;ENSP00000280377:P403S;ENSP00000377264:P378S	.	P	+	1	0	USP15	61064005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.493000	0.48517	0.655000	0.94253	CCA		0.338	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		50	266	0	0	0	1	0	50	266				
DICER1	23405	broad.mit.edu	37	14	95569987	95569987	+	Missense_Mutation	SNP	T	T	G	rs527872690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95569987T>G	ENST00000526495.1	-	23	4037	c.3746A>C	c.(3745-3747)aAa>aCa	p.K1249T	DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T|DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T|DICER1_ENST00000556045.1_Missense_Mutation_p.K147T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1249					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAGGTAGATTTGTTAGCATT	0.453			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3745-3747)aAa>aCa		dicer 1, ribonuclease type III							147.0	137.0	140.0					14																	95569987		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95569987T>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3746A>C	14.37:g.95569987T>G	ENSP00000437256:p.Lys1249Thr					DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T|DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T|DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000556045.1_Missense_Mutation_p.K147T	p.K1249T			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	23	4037	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1249					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3746A>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220878	0.39201	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.88046	0.3;0.3;0.3;0.3;-2.33;0.61	5.42	-10.7	0.00240	.	1.103310	0.06649	N	0.762409	T	0.69278	0.3093	N	0.08118	0	0.32462	N	0.543931	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46624	-0.9178	10	0.16420	T	0.52	-0.1329	14.2372	0.65934	0.0:0.1201:0.6567:0.2232	.	147;1249;1249	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	T	1249;1249;1249;1249;147;1249	ENSP00000343745:K1249T;ENSP00000437256:K1249T;ENSP00000376783:K1249T;ENSP00000435681:K1249T;ENSP00000451041:K147T;ENSP00000444719:K1249T	ENSP00000343745:K1249T	K	-	2	0	DICER1	94639740	0.926000	0.31397	0.456000	0.27044	0.997000	0.91878	-0.044000	0.12023	-2.268000	0.00685	0.459000	0.35465	AAA		0.453	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			109	482	0	0	0	1	0	109	482				
MITD1	129531	broad.mit.edu	37	2	99797352	99797352	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99797352A>G	ENST00000289359.2	-	1	169	c.93T>C	c.(91-93)taT>taC	p.Y31Y	MRPL30_ENST00000410042.1_Intron|C2orf15_ENST00000512183.2_5'Flank|MITD1_ENST00000466880.1_5'Flank|MRPL30_ENST00000338148.3_5'Flank|MRPL30_ENST00000409145.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	31	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						GAGCCTGCGGATACCGCGACT	0.577																																						ENST00000289359.2																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(91-93)taT>taC		MIT, microtubule interacting and transport, domain containing 1							93.0	91.0	92.0					2																	99797352		2203	4300	6503	SO:0001819	synonymous_variant	129531				protein transport	late endosome membrane		g.chr2:99797352A>G	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.93T>C	2.37:g.99797352A>G						MRPL30_ENST00000410042.1_Intron	p.Y31Y	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN			1	169	-			31			MIT.		Q69YV0	Silent	SNP	ENST00000289359.2	37	c.93T>C	CCDS2040.1																																																																																				0.577	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		142	420	0	0	0	1	0	142	420				
KIF13B	23303	broad.mit.edu	37	8	28980978	28980978	+	Silent	SNP	C	C	T	rs192162158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28980978C>T	ENST00000524189.1	-	28	3422	c.3384G>A	c.(3382-3384)gcG>gcA	p.A1128A	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1128					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCAGAAGCTGCGCTTCACGGT	0.488													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19772	0.0		0.0	False		,,,				2504	0.0					ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3382-3384)gcG>gcA		kinesin family member 13B		C		14,3904		0,14,1945	140.0	138.0	138.0		3384	-4.6	0.4	8		138	0,8316		0,0,4158	no	coding-synonymous	KIF13B	NM_015254.3		0,14,6103	TT,TC,CC		0.0,0.3573,0.1144		1128/1827	28980978	14,12220	1959	4158	6117	SO:0001819	synonymous_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28980978C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3384G>A	8.37:g.28980978C>T						CTD-2647L4.1_ENST00000523661.1_RNA	p.A1128A	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	28	3422	-		Ovarian(32;0.000536)	1128					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	c.3384G>A	CCDS55217.1																																																																																				0.488	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			12	704	0	0	0	1	0	12	704				
PTPN4	5775	broad.mit.edu	37	2	120718447	120718447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120718447C>A	ENST00000263708.2	+	23	2969	c.2198C>A	c.(2197-2199)aCt>aAt	p.T733N	PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	733	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTACCACACACTTGTACAGAT	0.388																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(2197-2199)aCt>aAt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						160.0	142.0	148.0					2																	120718447		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120718447C>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2198C>A	2.37:g.120718447C>A	ENSP00000263708:p.Thr733Asn					PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	p.T733N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			23	2969	+			733			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2198C>A	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978412|4.978412	0.92982|0.92982	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	T|D;D	0.14022|0.89552	2.54|-2.53;-2.53	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97660|0.97660	0.9233|0.9233	H|H	0.99811|0.99811	4.8|4.8	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	D|D	0.99081|0.99081	1.0837|1.0837	7|10	0.72032|0.87932	D|D	0.01|0	.|.	20.0119|20.0119	0.97458|0.97458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|733	.|P29074	.|PTN4_HUMAN	Q|N	16|733;366	ENSP00000394706:H16Q|ENSP00000263708:T733N;ENSP00000445841:T366N	ENSP00000394706:H16Q|ENSP00000263708:T733N	H|T	+|+	3|2	2|0	PTPN4|PTPN4	120434917|120434917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.734000|7.734000	0.84928|0.84928	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	CAC|ACT		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			63	518	1	0	5.08636e-23	1	5.77245e-23	63	518				
YOD1	55432	broad.mit.edu	37	1	207222956	207222956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207222956G>A	ENST00000315927.4	-	2	502	c.456C>T	c.(454-456)acC>acT	p.T152T	YOD1_ENST00000367084.1_Silent_p.T108T|YOD1_ENST00000391927.1_Silent_p.T108T|PFKFB2_ENST00000411990.2_5'UTR	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	152	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTGGGACCACGGTTCTGGTAA	0.493																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(322-324)acC>acT		YOD1 deubiquitinase							72.0	64.0	67.0					1																	207222956		2203	4300	6503	SO:0001819	synonymous_variant	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222956G>A		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.456C>T	1.37:g.207222956G>A						PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000315927.4_Silent_p.T152T|YOD1_ENST00000391927.1_Silent_p.T108T	p.T108T	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN			4	528	-	Prostate(682;0.19)		152			UBX-like.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	37	c.324C>T	CCDS31002.1																																																																																				0.493	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		61	188	0	0	0	1	0	61	188				
AFP	174	broad.mit.edu	37	4	74313256	74313256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74313256G>A	ENST00000395792.2	+	8	1021	c.921G>A	c.(919-921)acG>acA	p.T307T	AFP_ENST00000226359.2_Silent_p.T307T	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	307	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACTGACCACGCTGGAACGTG	0.353									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(919-921)acG>acA		alpha-fetoprotein							45.0	45.0	45.0					4																	74313256		2203	4300	6503	SO:0001819	synonymous_variant	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74313256G>A	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.921G>A	4.37:g.74313256G>A						AFP_ENST00000226359.2_Silent_p.T307T	p.T307T	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1021	+	Breast(15;0.00102)		307			Albumin 2.		B2RBU3	Silent	SNP	ENST00000395792.2	37	c.921G>A	CCDS3556.1																																																																																				0.353	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			5	212	0	0	0	1	0	5	212				
SEMA5B	54437	broad.mit.edu	37	3	122634371	122634371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122634371C>T	ENST00000357599.3	-	14	2290	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R635Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	635					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGATCGAGCTCGACACAGGCA	0.622																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1903-1905)cGa>cAa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							71.0	68.0	69.0					3																	122634371		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122634371C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1904G>A	3.37:g.122634371C>T	ENSP00000350215:p.Arg635Gln					SEMA5B_ENST00000357599.3_Missense_Mutation_p.R635Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q	p.R635Q			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2207	-			635					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1904G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626479	0.66901	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.88	3.97	0.46021	.	0.056769	0.64402	N	0.000001	T	0.69269	0.3092	M	0.87381	2.88	0.58432	D	0.999992	D;B;B	0.89917	1.0;0.088;0.088	D;B;B	0.97110	1.0;0.05;0.05	T	0.71344	-0.4621	10	0.45353	T	0.12	.	10.3826	0.44121	0.0:0.8989:0.0:0.1011	.	577;635;635	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	635;635;577;689;635	ENSP00000350215:R635Q;ENSP00000195173:R635Q;ENSP00000389588:R689Q;ENSP00000377208:R635Q	ENSP00000195173:R635Q	R	-	2	0	SEMA5B	124117061	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.785000	0.62418	1.180000	0.42898	0.561000	0.74099	CGA		0.622	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		53	216	0	0	0	1	0	53	216				
SLC4A11	83959	broad.mit.edu	37	20	3209045	3209045	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3209045C>A	ENST00000380056.3	-	18	2513	c.2466G>T	c.(2464-2466)cgG>cgT	p.R822R	SLC4A11_ENST00000539553.2_Silent_p.R806R|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.R849R	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	822	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGGGCACCCTCCGGATGTAGT	0.657																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2545-2547)cgG>cgT		solute carrier family 4, sodium borate transporter, member 11							112.0	106.0	108.0					20																	3209045		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209045C>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2466G>T	20.37:g.3209045C>A						SLC4A11_ENST00000380056.3_Silent_p.R822R|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.R806R	p.R849R	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			19	2648	-			822			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.2547G>T	CCDS13052.1																																																																																				0.657	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			110	545	1	0	6.25226e-48	1	7.70577e-48	110	545				
NDUFA13	51079	broad.mit.edu	37	19	19625951	19625951	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19625951C>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.D96Y|NDUFA13_ENST00000512771.3_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.D96Y|NDUFA13_ENST00000503283.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TGCAGCAGGTCGGTGGCGGCC	0.657																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(286-288)Gac>Tac		testis-specific serine kinase 6							41.0	41.0	41.0					19																	19625951		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625951C>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625951C>A	Exception_encountered					TSSK6_ENST00000585580.3_Missense_Mutation_p.D96Y	p.D96Y			Q9BXA6	TSSK6_HUMAN			1	887	-			96			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.286G>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973641	0.53720	.	.	ENSG00000178093	ENST00000360913	T	0.29655	1.56	4.85	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	U	0.000534	T	0.60818	0.2298	M	0.93550	3.43	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	T	0.67692	-0.5605	10	0.87932	D	0	.	8.1209	0.30971	0.0:0.8907:0.0:0.1093	.	96	Q9BXA6	TSSK6_HUMAN	Y	96	ENSP00000354168:D96Y	ENSP00000354168:D96Y	D	-	1	0	TSSK6	19486951	0.991000	0.36638	1.000000	0.80357	0.253000	0.25986	2.936000	0.48971	2.252000	0.74401	0.306000	0.20318	GAC		0.657	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		59	341	1	0	8.72158e-25	1	9.98758e-25	59	341				
NUMA1	4926	broad.mit.edu	37	11	71726974	71726974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71726974C>T	ENST00000393695.3	-	15	1906	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.K525K|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGCCTGCTGCTTCAGGCCAG	0.607			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(1573-1575)aaG>aaA		nuclear mitotic apparatus protein 1							134.0	124.0	127.0					11																	71726974		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726974C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1575G>A	11.37:g.71726974C>T			OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.K525K	p.K525K	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	1906	-			525						Silent	SNP	ENST00000393695.3	37	c.1575G>A	CCDS31633.1																																																																																				0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			207	777	0	0	0	1	0	207	777				
EPX	8288	broad.mit.edu	37	17	56276417	56276417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCCGATCAACGGAAACCCCCA	0.567																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1135-1137)acG>acA		eosinophil peroxidase							75.0	66.0	69.0					17																	56276417		2203	4300	6503	SO:0001819	synonymous_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56276417G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1137G>A	17.37:g.56276417G>A							p.T379T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			8	1247	+			379					Q4TVP3	Silent	SNP	ENST00000225371.5	37	c.1137G>A	CCDS11602.1																																																																																				0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		42	160	0	0	0	1	0	42	160				
ZNF536	9745	broad.mit.edu	37	19	30935664	30935664	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935664C>A	ENST00000355537.3	+	2	1342	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	399					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCAACAAGCTGTCGGTGAA	0.607																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1195-1197)Ctg>Atg		zinc finger protein 536							57.0	59.0	58.0					19																	30935664		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935664C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1195C>A	19.37:g.30935664C>A	ENSP00000347730:p.Leu399Met						p.L399M	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1342	+	Esophageal squamous(110;0.0834)		399					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1195C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655879	0.29425	.	.	ENSG00000198597	ENST00000355537	T	0.09817	2.94	5.44	5.44	0.79542	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.24044	0.0582	L	0.48642	1.525	0.39902	D	0.973911	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00651	-1.1626	10	0.56958	D	0.05	-19.9523	10.4163	0.44325	0.0:0.8797:0.0:0.1203	.	399;399	A7E228;O15090	.;ZN536_HUMAN	M	399	ENSP00000347730:L399M	ENSP00000347730:L399M	L	+	1	2	ZNF536	35627504	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.184000	0.50926	2.535000	0.85469	0.591000	0.81541	CTG		0.607	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		90	372	1	0	3.6518e-20	1	4.08764e-20	90	372				
ZNF335	63925	broad.mit.edu	37	20	44599953	44599953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44599953C>A	ENST00000322927.2	-	2	197	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	33					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACACGGCTTCTGAGGTGCCC	0.731																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(97-99)Gaa>Taa		zinc finger protein 335							6.0	8.0	7.0					20																	44599953		2100	4143	6243	SO:0001587	stop_gained	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44599953C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.97G>T	20.37:g.44599953C>A	ENSP00000325326:p.Glu33*					ZNF335_ENST00000426788.1_Intron	p.E33*	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			2	197	-		Myeloproliferative disorder(115;0.0122)	33					B4DLG7|Q548D0|Q9H684	Nonsense_Mutation	SNP	ENST00000322927.2	37	c.97G>T	CCDS13389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.966576|6.966576	0.97967|0.97967	.|.	.|.	ENSG00000198026|ENSG00000198026	ENST00000243961|ENST00000322927	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.52906	.|T	.|0.07	.|-15.8841	15.5037|15.5037	0.75722|0.75722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|ENSP00000325326:E33X	.|E	-|-	.|1	.|0	ZNF335|ZNF335	44033360|44033360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.545000|6.545000	0.73883|0.73883	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	.|GAA		0.731	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		21	79	1	0	3.62473e-10	1	3.83521e-10	21	79				
ZNF217	7764	broad.mit.edu	37	20	52198924	52198924	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198924T>G	ENST00000371471.2	-	2	867	c.442A>C	c.(442-444)Aga>Cga	p.R148R	ZNF217_ENST00000302342.3_Silent_p.R148R|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	148					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTGTGTGTTCTCATGTGGATC	0.408																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(442-444)Aga>Cga		zinc finger protein 217							150.0	140.0	143.0					20																	52198924		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198924T>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.442A>C	20.37:g.52198924T>G						ZNF217_ENST00000302342.3_Silent_p.R148R	p.R148R			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	867	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		148					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.442A>C	CCDS13443.1																																																																																				0.408	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		200	830	0	0	0	1	0	200	830				
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	C	T	rs199974771	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:619547C>T	ENST00000496514.1	+	1	153	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000255622.6_Silent_p.C44C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CGCCGGACTGCGACAGCCTCC	0.632																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(130-132)tgC>tgT		phosphodiesterase 6B, cGMP-specific, rod, beta							38.0	41.0	40.0					4																	619547		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619547C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.132C>T	4.37:g.619547C>T						PDE6B_ENST00000496514.1_Silent_p.C44C	p.C44C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			1	175	+			44					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.132C>T	CCDS33932.1																																																																																				0.632	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		34	321	0	0	0	1	0	34	321				
CFAP61	26074	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20278871G>A	ENST00000245957.5	+	25	3339	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1088								p.R1088Q(3)|p.R1088P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTACTTCCGAATTCATATT	0.458																																						ENST00000245957.5																			4	Substitution - Missense(4)	p.R1088Q(3)|p.R1088P(1)	large_intestine(3)|lung(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(3262-3264)cGa>cAa		chromosome 20 open reading frame 26							78.0	75.0	76.0					20																	20278871		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20278871G>A																												ENST00000245957.5:c.3263G>A	20.37:g.20278871G>A	ENSP00000245957:p.Arg1088Gln					C20orf26_ENST00000377309.2_3'UTR	p.R1088Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3339	+			1088					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3263G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678484	0.88542	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.47528	0.84	5.27	5.27	0.74061	.	0.300219	0.31922	N	0.006857	T	0.61211	0.2329	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	P	0.51701	0.677	T	0.65784	-0.6084	10	0.62326	D	0.03	.	19.2438	0.93893	0.0:0.0:1.0:0.0	.	1088	Q8NHU2	CT026_HUMAN	Q	1028;1054;1088	ENSP00000245957:R1088Q	ENSP00000245957:R1088Q	R	+	2	0	C20orf26	20226871	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	6.069000	0.71209	2.628000	0.89032	0.655000	0.94253	CGA		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			58	231	0	0	0	1	0	58	231				
FAM69A	388650	broad.mit.edu	37	1	93341969	93341969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93341969G>A	ENST00000370310.4	-	2	143	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	25						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		TATTTCATCCGCACATATGAG	0.383																																						ENST00000370310.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						c.(73-75)Cgg>Tgg		family with sequence similarity 69, member A							77.0	75.0	76.0					1																	93341969		1877	4103	5980	SO:0001583	missense	388650					endoplasmic reticulum membrane|integral to membrane		g.chr1:93341969G>A	AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.73C>T	1.37:g.93341969G>A	ENSP00000359333:p.Arg25Trp						p.R25W	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)	2	143	-		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	25					Q6IRV2	Missense_Mutation	SNP	ENST00000370310.4	37	c.73C>T	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604616	0.87157	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.53423	0.62	5.59	4.66	0.58398	.	0.057952	0.64402	D	0.000002	T	0.54078	0.1836	L	0.52573	1.65	0.50467	D	0.999871	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.74674	0.849;0.849;0.984	T	0.61058	-0.7139	10	0.72032	D	0.01	-11.1064	15.6626	0.77199	0.0:0.0:0.8617:0.1383	.	18;25;25	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	W	25	ENSP00000359333:R25W	ENSP00000359333:R25W	R	-	1	2	FAM69A	93114557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.519000	0.81809	1.440000	0.47531	0.655000	0.94253	CGG		0.383	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	NM_001006605		21	157	0	0	0	1	0	21	157				
SPSB4	92369	broad.mit.edu	37	3	140785571	140785571	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785571C>T	ENST00000310546.2	+	2	1369	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGGCAAGAAGCTGTACCCGGT	0.617																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(625-627)Ctg>Ttg		splA/ryanodine receptor domain and SOCS box containing 4							70.0	66.0	67.0					3																	140785571		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785571C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.625C>T	3.37:g.140785571C>T							p.L209L	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1369	+			209			B30.2/SPRY.			Silent	SNP	ENST00000310546.2	37	c.625C>T	CCDS3115.1																																																																																				0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		12	245	0	0	0	1	0	12	245				
FERMT2	10979	broad.mit.edu	37	14	53348188	53348188	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53348188C>A	ENST00000395631.2	-	5	743		c.e5-1		FERMT2_ENST00000341590.3_Splice_Site|FERMT2_ENST00000553373.1_Splice_Site|FERMT2_ENST00000343279.4_Splice_Site|FERMT2_ENST00000399304.3_Splice_Site			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TATATACTTCCTAATAAGTAA	0.353																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.e5-1		fermitin family member 2							99.0	100.0	100.0					14																	53348188		2203	4300	6503	SO:0001630	splice_region_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53348188C>A	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.527-1G>T	14.37:g.53348188C>A						FERMT2_ENST00000343279.4_Splice_Site|FERMT2_ENST00000399304.3_Splice_Site|FERMT2_ENST00000553373.1_Splice_Site|FERMT2_ENST00000341590.3_Splice_Site				Q96AC1	FERM2_HUMAN			5	743	-	Breast(41;0.0342)							B5TJY2|Q14840|Q86TY7	Splice_Site	SNP	ENST00000395631.2	37		CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016325	0.75161	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554288	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3068	0.98634	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT2	52417938	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.803000	0.96430	0.591000	0.81541	.		0.353	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832	Intron	38	482	1	0	9.45814e-24	1	1.07742e-23	38	482				
DCHS2	54798	broad.mit.edu	37	4	155298572	155298572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155298572C>T	ENST00000357232.4	-	3	258	c.259G>A	c.(259-261)Gga>Aga	p.G87R	DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATAGAGTCCTGAATCTGCA	0.433																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(259-261)Gga>Aga		dachsous cadherin-related 2							59.0	60.0	59.0					4																	155298572		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155298572C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.259G>A	4.37:g.155298572C>T	ENSP00000349768:p.Gly87Arg					DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	p.G87R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	3	258	-	all_hematologic(180;0.208)	Renal(120;0.0854)	87			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.259G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649025	0.87958	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.66280	0.47;-0.2	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000010	D	0.87010	0.6071	H	0.96889	3.9	0.80722	D	1	P;D	0.89917	0.889;1.0	P;D	0.85130	0.716;0.997	D	0.90962	0.4813	10	0.87932	D	0	.	19.3129	0.94198	0.0:1.0:0.0:0.0	.	693;87	E9PC11;Q6V1P9	.;PCD23_HUMAN	R	87;693;693	ENSP00000349768:G87R;ENSP00000345062:G693R	ENSP00000345062:G693R	G	-	1	0	DCHS2	155518022	0.981000	0.34729	0.921000	0.36526	0.897000	0.52465	5.216000	0.65246	2.664000	0.90586	0.561000	0.74099	GGA		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		43	149	0	0	0	1	0	43	149				
ZNF772	400720	broad.mit.edu	37	19	57987053	57987053	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57987053C>A	ENST00000343280.4	-	3	434	c.174G>T	c.(172-174)gaG>gaT	p.E58D	ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC003005.2_ENST00000595422.1_lincRNA|AC004076.9_ENST00000596831.1_Missense_Mutation_p.E58D|ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E58D	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GTGCAAAGTTCTCCAGCATCA	0.552																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(172-174)gaG>gaT		zinc finger protein 772							191.0	165.0	174.0					19																	57987053		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57987053C>A	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.174G>T	19.37:g.57987053C>A	ENSP00000341165:p.Glu58Asp					ZNF772_ENST00000356584.3_Missense_Mutation_p.E58D|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Missense_Mutation_p.E58D|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron	p.E58D	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	3	434	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	58			KRAB.		A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.174G>T	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572108	0.45798	.	.	ENSG00000197128	ENST00000343280;ENST00000319969;ENST00000356584;ENST00000291809	T;T	0.03920	3.76;3.76	3.52	2.45	0.29901	Krueppel-associated box (4);	.	.	.	.	T	0.11665	0.0284	M	0.92219	3.285	0.80722	D	1	B;B	0.14438	0.002;0.01	B;B	0.14023	0.007;0.01	T	0.01621	-1.1310	9	0.66056	D	0.02	.	8.7124	0.34391	0.0:0.7412:0.2588:0.0	.	58;58	A6NJK9;Q68DY9	.;ZN772_HUMAN	D	58;45;58;45	ENSP00000341165:E58D;ENSP00000348992:E58D	ENSP00000291809:E45D	E	-	3	2	ZNF772	62678865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.968000	0.29357	0.794000	0.33899	0.585000	0.79938	GAG		0.552	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		98	562	1	0	5.34484e-38	1	6.43097e-38	98	562				
GLIS3	169792	broad.mit.edu	37	9	3829351	3829351	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:3829351T>C	ENST00000324333.10	-	9	2343	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	717					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGGAAAACATCAAAACTGGC	0.537																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(2149-2151)gAt>gGt		GLIS family zinc finger 3							108.0	93.0	98.0					9																	3829351		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3829351T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2150A>G	9.37:g.3829351T>C	ENSP00000325494:p.Asp717Gly					GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	p.D717G	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	9	2343	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	717					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.2150A>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	t	12.24	1.878591	0.33162	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11821	2.77;2.74	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000082	T	0.08537	0.0212	N	0.19112	0.55	0.37435	D	0.914172	B;B;B	0.32693	0.38;0.38;0.051	B;B;B	0.30316	0.114;0.114;0.034	T	0.38693	-0.9649	10	0.15952	T	0.53	.	11.4116	0.49929	0.0:0.0717:0.0:0.9283	.	312;872;717	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	G	717;872	ENSP00000325494:D717G;ENSP00000371398:D872G	ENSP00000325494:D717G	D	-	2	0	GLIS3	3819351	1.000000	0.71417	0.994000	0.49952	0.790000	0.44656	4.122000	0.57910	2.270000	0.75569	0.460000	0.39030	GAT		0.537	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		40	184	0	0	0	1	0	40	184				
SEC16A	9919	broad.mit.edu	37	9	139341761	139341761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139341761G>A	ENST00000371706.3	-	25	6114	c.6081C>T	c.(6079-6081)agC>agT	p.S2027S	SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313050.7_Silent_p.S2205S|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000431893.2_Silent_p.S2027S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2027	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCCGGCTCGCTCCGCTGGG	0.617																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6613-6615)agC>agT		SEC16 homolog A (S. cerevisiae)							16.0	22.0	20.0					9																	139341761		1995	4146	6141	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139341761G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6081C>T	9.37:g.139341761G>A						SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000371706.3_Silent_p.S2027S|SEC16A_ENST00000431893.2_Silent_p.S2027S	p.S2205S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	25	6688	-		Myeloproliferative disorder(178;0.0511)	2027					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.6615C>T		.	.	.	.	.	.	.	.	.	.	G	4.974	0.180962	0.09443	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.26	-9.11	0.00711	.	.	.	.	.	.	.	.	.	.	.	0.32196	N	0.578475	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8904	4.3182	0.11003	0.5247:0.0934:0.29:0.092	.	.	.	.	X	335	.	.	R	-	1	2	SEC16A	138461582	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.912000	0.01582	-1.771000	0.01293	-1.804000	0.00617	CGA		0.617	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		4	43	0	0	0	1	0	4	43				
MLXIP	22877	broad.mit.edu	37	12	122620104	122620104	+	Silent	SNP	G	G	A	rs369340273		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620104G>A	ENST00000319080.7	+	11	2055	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P	MLXIP_ENST00000538698.1_Silent_p.P248P					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CGAGCAGCCCGCCTGCCCCCG	0.677																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1921-1923)ccG>ccA		MLX interacting protein		G		2,3986		0,2,1992	15.0	20.0	18.0		1513	1.6	0.9	12		18	0,8332		0,0,4166	no	coding-synonymous	MLXIP	NM_014938.3		0,2,6158	AA,AG,GG		0.0,0.0502,0.0162		641/920	122620104	2,12318	1994	4166	6160	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122620104G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1923G>A	12.37:g.122620104G>A						MLXIP_ENST00000538698.1_Silent_p.P248P	p.P641P			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	11	2055	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	641						Silent	SNP	ENST00000319080.7	37	c.1923G>A																																																																																					0.677	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		17	59	0	0	0	1	0	17	59				
DOCK11	139818	broad.mit.edu	37	X	117676803	117676803	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:117676803C>A	ENST00000276202.7	+	2	281	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	DOCK11_ENST00000276204.6_Splice_Site_p.S73Y	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	73	Interaction with activated CDC42. {ECO:0000250}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAAGATATATCTGTGAGTTCA	0.403																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.e2+1		dedicator of cytokinesis 11							127.0	125.0	126.0					X																	117676803		2203	4300	6503	SO:0001630	splice_region_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117676803C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.219+1C>A	X.37:g.117676803C>A						DOCK11_ENST00000276202.7_Splice_Site_p.S73_splice	p.S73_splice			Q5JSL3	DOC11_HUMAN			2	292	+			73			Interaction with activated CDC42 (By similarity).		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37	c.219_splice	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708339	0.68615	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.46063	0.88;0.88	5.37	5.37	0.77165	.	0.202957	0.44285	D	0.000473	T	0.46698	0.1406	M	0.69358	2.11	0.46260	D	0.998954	P	0.37636	0.603	B	0.42593	0.392	T	0.52056	-0.8626	10	0.87932	D	0	-31.1697	10.5212	0.44920	0.0:0.9077:0.0:0.0923	.	73	Q5JSL3	DOC11_HUMAN	Y	73	ENSP00000276204:S73Y;ENSP00000276202:S73Y	ENSP00000276202:S73Y	S	+	2	0	DOCK11	117560831	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.953000	0.49105	2.235000	0.73313	0.590000	0.80494	TCT		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	Missense_Mutation	32	677	1	0	7.16026e-08	1	7.45543e-08	32	677				
ACLY	47	broad.mit.edu	37	17	40062789	40062789	+	Silent	SNP	G	G	A	rs115877497	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40062789G>A	ENST00000352035.2	-	8	988	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.V286V|ACLY_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000393896.2_Silent_p.V286V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	286					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCTGTACACGACAGAGGCGC	0.602													G|||	19	0.00379393	0.0144	0.0	5008	,	,		17473	0.0		0.0	False		,,,				2504	0.0				Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(856-858)gtC>gtT		ATP citrate lyase		G	,	39,4367	43.1+/-76.7	0,39,2164	104.0	96.0	99.0		858,858	-4.2	0.9	17	dbSNP_132	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACLY	NM_001096.2,NM_198830.1	,	0,39,6464	AA,AG,GG		0.0,0.8852,0.2999	,	286/1102,286/1092	40062789	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40062789G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.858C>T	17.37:g.40062789G>A						ACLY_ENST00000393896.2_Silent_p.V286V|ACLY_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.V286V	p.V286V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			8	988	-		Breast(137;0.000143)	286					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.858C>T	CCDS11412.1																																																																																				0.602	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		96	452	0	0	0	1	0	96	452				
ZRSR1	7310	broad.mit.edu	37	5	112228631	112228631	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112228631G>T	ENST00000391338.1	+	1	1319	c.1295G>T	c.(1294-1296)aGg>aTg	p.R432M	CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	432						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						GGAAGAAATAGGCACCGCAGC	0.572																																						ENST00000391338.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(1294-1296)aGg>aTg		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001583	missense	7310							g.chr5:112228631G>T	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.1295G>T	5.37:g.112228631G>T	ENSP00000375133:p.Arg432Met					REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR	p.R432M	NM_001204199.1	NP_001191128.1					1	1319	+								B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.1295G>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.190893	0.38707	.	.	ENSG00000212643	ENST00000391338	T	0.02579	4.24	1.48	1.48	0.22813	.	0.136890	0.64402	D	0.000012	T	0.05090	0.0136	.	.	.	0.09310	N	1	P	0.50156	0.932	P	0.52881	0.712	T	0.22312	-1.0220	9	0.62326	D	0.03	.	3.8537	0.08967	0.235:0.0:0.765:0.0	.	432	Q15695	U2AFL_HUMAN	M	432	ENSP00000375133:R432M	ENSP00000375133:R432M	R	+	2	0	ZRSR1	112256530	0.988000	0.35896	0.010000	0.14722	0.004000	0.04260	2.106000	0.41835	1.115000	0.41800	0.467000	0.42956	AGG		0.572	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		22	84	1	0	1.96292e-10	1	2.08093e-10	22	84				
COX8C	341947	broad.mit.edu	37	14	93814406	93814406	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93814406G>A	ENST00000342144.2	+	2	237	c.159G>A	c.(157-159)acG>acA	p.T53T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	53						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.T53T(1)		large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TGTTTTTTACGACCTTCTTAA	0.453																																					GBM(134;630 1800 8342 13106 15419)	ENST00000342144.2																			1	Substitution - coding silent(1)	p.T53T(1)	lung(1)	large_intestine(1)|lung(1)|prostate(2)|skin(1)	5						c.(157-159)acG>acA		cytochrome c oxidase subunit VIIIC							190.0	137.0	155.0					14																	93814406		2203	4300	6503	SO:0001819	synonymous_variant	341947					integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr14:93814406G>A	AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581		"""Mitochondrial respiratory chain complex / Complex IV"""	24382	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit VIII isoform 3"""		"""cytochrome c oxidase subunit 8C"""			12909344	Standard	NM_182971		Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.159G>A	14.37:g.93814406G>A						UNC79_ENST00000256339.4_Intron	p.T53T	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)	2	237	+		all_cancers(154;0.083)	53					Q495K7	Silent	SNP	ENST00000342144.2	37	c.159G>A	CCDS9910.1																																																																																				0.453	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412769.1	NM_182971		59	250	0	0	0	1	0	59	250				
RNF126	55658	broad.mit.edu	37	19	652265	652265	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:652265C>A	ENST00000292363.5	-	3	321	c.166G>T	c.(166-168)Gct>Tct	p.A56S		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTGGGAGCTGTGGAGGGG	0.687																																						ENST00000292363.5																			0				lung(1)	1						c.(166-168)Gct>Tct		ring finger protein 126							70.0	62.0	65.0					19																	652265		2184	4282	6466	SO:0001583	missense	55658						protein binding|zinc ion binding	g.chr19:652265C>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.166G>T	19.37:g.652265C>A	ENSP00000292363:p.Ala56Ser						p.A56S	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	321	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	56						Missense_Mutation	SNP	ENST00000292363.5	37	c.166G>T	CCDS12039.1	.	.	.	.	.	.	.	.	.	.	c	5.854	0.341819	0.11069	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.13196	2.61	4.43	4.43	0.53597	.	0.080536	0.49916	D	0.000122	T	0.05593	0.0147	N	0.04090	-0.28	0.31136	N	0.70716	B	0.22146	0.065	B	0.22753	0.041	T	0.22173	-1.0224	10	0.08599	T	0.76	.	10.094	0.42464	0.2162:0.7838:0.0:0.0	.	56	Q9BV68-2	.	S	56	ENSP00000292363:A56S	ENSP00000292363:A56S	A	-	1	0	RNF126	603265	0.995000	0.38212	0.992000	0.48379	0.868000	0.49771	3.288000	0.51739	2.008000	0.58898	0.561000	0.74099	GCT		0.687	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		12	24	1	0	9.05144e-12	1	9.67624e-12	12	24				
PNLIPRP2	5408	broad.mit.edu	37	10	118380475	118380475	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118380475G>A	ENST00000298771.7	+	0	11				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGAGTGGAAGCTCTGGTGCA	0.597																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							29.0	34.0	32.0					10																	118380475		1942	4140	6082			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118380475G>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118380475G>A						PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	11	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37																																																																																						0.597	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		15	55	0	0	0	1	0	15	55				
PENK	5179	broad.mit.edu	37	8	57354416	57354416	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57354416T>G	ENST00000314922.3	-	2	295	c.219A>C	c.(217-219)aaA>aaC	p.K73N	PENK_ENST00000451791.2_Missense_Mutation_p.K73N|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	73					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAAGCTCTGGTTTGGACAGCT	0.468																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(217-219)aaA>aaC		proenkephalin							91.0	96.0	94.0					8																	57354416		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354416T>G		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.219A>C	8.37:g.57354416T>G	ENSP00000324248:p.Lys73Asn					PENK_ENST00000451791.2_Missense_Mutation_p.K73N|PENK_ENST00000523274.1_5'UTR	p.K73N	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	295	-		all_lung(136;0.229)	73					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.219A>C	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653120	0.29425	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791;ENST00000518974	T;T;T	0.74737	-0.87;-0.87;0.86	5.94	-9.73	0.00512	.	0.438594	0.27627	N	0.018537	T	0.46367	0.1389	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.11179	-1.0598	10	0.46703	T	0.11	-6.257	13.5097	0.61504	0.076:0.6291:0.0:0.2949	.	73	P01210	PENK_HUMAN	N	73	ENSP00000324248:K73N;ENSP00000400894:K73N;ENSP00000428012:K73N	ENSP00000324248:K73N	K	-	3	2	PENK	57516970	0.025000	0.19082	0.000000	0.03702	0.735000	0.41995	-0.852000	0.04308	-2.039000	0.00917	0.459000	0.35465	AAA		0.468	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			120	506	0	0	0	1	0	120	506				
PRRC2B	84726	broad.mit.edu	37	9	134349022	134349022	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134349022C>T	ENST00000357304.4	+	14	2290	c.2235C>T	c.(2233-2235)agC>agT	p.S745S	PRRC2B_ENST00000405995.1_Silent_p.S745S|PRRC2B_ENST00000458550.1_Silent_p.S745S|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	745							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTGTGTGGAGCCCAGAGGGCT	0.587																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2233-2235)agC>agT		proline-rich coiled-coil 2B							34.0	37.0	36.0					9																	134349022		1986	4145	6131	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134349022C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2235C>T	9.37:g.134349022C>T						PRRC2B_ENST00000405995.1_Silent_p.S745S|PRRC2B_ENST00000458550.1_Silent_p.S745S|PRRC2B_ENST00000372249.1_5'UTR	p.S745S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			14	2290	+			745					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.2235C>T	CCDS48044.1																																																																																				0.587	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	114	0	0	0	1	0	24	114				
RXFP3	51289	broad.mit.edu	37	5	33938247	33938247	+	Missense_Mutation	SNP	G	G	A	rs542295638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33938247G>A	ENST00000330120.3	+	1	1757	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	468					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						CAGCAGCTCTGCCTACTGACG	0.726																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1402-1404)Gcc>Acc		relaxin/insulin-like family peptide receptor 3							11.0	13.0	13.0					5																	33938247		2022	3966	5988	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33938247G>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.1402G>A	5.37:g.33938247G>A	ENSP00000328708:p.Ala468Thr						p.A468T	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1757	+			468					Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.1402G>A	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507128	0.12883	.	.	ENSG00000182631	ENST00000330120	T	0.70986	-0.53	5.64	2.77	0.32553	.	0.501086	0.16447	N	0.214034	T	0.49525	0.1562	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41910	-0.9482	10	0.66056	D	0.02	-9.5993	5.1591	0.15050	0.1941:0.0:0.4271:0.3788	.	468	Q9NSD7	RL3R1_HUMAN	T	468	ENSP00000328708:A468T	ENSP00000328708:A468T	A	+	1	0	RXFP3	33974004	0.000000	0.05858	0.027000	0.17364	0.112000	0.19704	0.380000	0.20602	0.260000	0.21731	-0.181000	0.13052	GCC		0.726	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		9	176	0	0	0	1	0	9	176				
CKMT2	1160	broad.mit.edu	37	5	80562074	80562074	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80562074G>T	ENST00000424301.2	+	11	1495	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	419					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TTGGCAAAAAGTAAACTTTCC	0.383																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(1255-1257)aaG>aaT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						126.0	130.0	129.0					5																	80562074		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80562074G>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1257G>T	5.37:g.80562074G>T	ENSP00000404203:p.Lys419Asn					CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA	p.K419N	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	11	1495	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	419					Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.1257G>T	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673184	0.29693	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.25085	1.82;1.82;1.82	5.52	5.52	0.82312	.	0.075433	0.56097	D	0.000029	T	0.16171	0.0389	N	0.19112	0.55	0.38709	D	0.953176	B	0.24258	0.1	B	0.15484	0.013	T	0.05484	-1.0882	10	0.72032	D	0.01	-16.8663	9.233	0.37448	0.0825:0.1483:0.7692:0.0	.	419	P17540	KCRS_HUMAN	N	419	ENSP00000254035:K419N;ENSP00000410289:K419N;ENSP00000404203:K419N	ENSP00000254035:K419N	K	+	3	2	CKMT2	80597830	1.000000	0.71417	0.997000	0.53966	0.381000	0.30169	1.038000	0.30254	2.762000	0.94881	0.650000	0.86243	AAG		0.383	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		91	446	1	0	1.59228e-47	1	1.96063e-47	91	446				
BMP1	649	broad.mit.edu	37	8	22053064	22053064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22053064G>A	ENST00000306385.5	+	13	2399	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R|BMP1_ENST00000397814.3_Missense_Mutation_p.G577R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	577	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGACCCCGGGTACGAGCT	0.662																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1729-1731)Ggg>Agg		bone morphogenetic protein 1							43.0	44.0	43.0					8																	22053064		2203	4297	6500	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22053064G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1729G>A	8.37:g.22053064G>A	ENSP00000305714:p.Gly577Arg					BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000397814.3_Missense_Mutation_p.G577R|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R	p.G577R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	13	2399	+			577			EGF-like 1; calcium-binding (Potential).		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1729G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080077	0.94050	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	D;D;D;D	0.98264	-3.07;-4.83;-4.83;-4.83	5.19	5.19	0.71726	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39341	U	0.001400	D	0.99187	0.9718	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.77557	0.984;0.985;0.99;0.887	D	0.99312	1.0904	10	0.87932	D	0	.	17.476	0.87659	0.0:0.0:1.0:0.0	.	577;650;577;577	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	R	577	ENSP00000305714:G577R;ENSP00000380917:G577R;ENSP00000306121:G577R;ENSP00000380915:G577R	ENSP00000306121:G577R	G	+	1	0	BMP1	22109009	1.000000	0.71417	0.354000	0.25760	0.940000	0.58332	9.843000	0.99491	2.419000	0.82065	0.563000	0.77884	GGG		0.662	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		29	448	0	0	0	1	0	29	448				
CENPT	80152	broad.mit.edu	37	16	67865777	67865777	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67865777G>T	ENST00000562787.1	-	8	951	c.403C>A	c.(403-405)Cct>Act	p.P135T	CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000445712.2_Missense_Mutation_p.P32T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	135	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCGAGCTCAGGAAGTTGCAGC	0.567																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(403-405)Cct>Act		centromere protein T							18.0	22.0	21.0					16																	67865777		1934	4128	6062	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865777G>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.403C>A	16.37:g.67865777G>T	ENSP00000457810:p.Pro135Thr					CENPT_ENST00000445712.2_Missense_Mutation_p.P32T|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T	p.P135T	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	8	951	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	135					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.403C>A	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376729	0.82682	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	D;D;D	0.81659	-1.52;-1.52;-1.52	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	D	0.89431	0.6713	M	0.74881	2.28	0.42055	D	0.991135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89459	0.3735	10	0.62326	D	0.03	-20.6962	16.3795	0.83443	0.0:0.0:1.0:0.0	.	32;135;135	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	T	135;135;32	ENSP00000400140:P135T;ENSP00000219172:P135T;ENSP00000411594:P32T	ENSP00000219172:P135T	P	-	1	0	CENPT	66423278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.489000	0.60309	2.941000	0.99782	0.655000	0.94253	CCT		0.567	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		28	90	1	0	6.07407e-21	1	6.82693e-21	28	90				
CD163	9332	broad.mit.edu	37	12	7640253	7640253	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7640253G>A	ENST00000359156.4	-	8	1954	c.1752C>T	c.(1750-1752)cgC>cgT	p.R584R	CD163_ENST00000541972.1_Silent_p.R572R|CD163_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Silent_p.R584R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	584	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CATTCACCAAGCGAATTTCTG	0.498																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1750-1752)cgC>cgT		CD163 molecule							71.0	72.0	72.0					12																	7640253		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640253G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1752C>T	12.37:g.7640253G>A						CD163_ENST00000432237.2_Silent_p.R584R|CD163_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000541972.1_Silent_p.R572R	p.R584R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			8	1954	-			584			SRCR 6.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.1752C>T	CCDS8578.1																																																																																				0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		13	459	0	0	0	1	0	13	459				
TTN	7273	broad.mit.edu	37	2	179412905	179412905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179412905G>A	ENST00000591111.1	-	289	88749	c.88525C>T	c.(88525-88527)Ctt>Ttt	p.L29509F	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L31150F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29509	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTCATTTCAAGCAGGTAGCCA	0.463																																						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.(93448-93450)Ctt>Ttt		titin							155.0	160.0	158.0					2																	179412905		1971	4157	6128	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412905G>A	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.88525C>T	2.37:g.179412905G>A	ENSP00000465570:p.Leu29509Phe					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L29509F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.L31150F	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)		339	93672	-			29509			Ig-like 139.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.93448C>T		.	.	.	.	.	.	.	.	.	.	G	14.45	2.538536	0.45176	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.65	4.76	0.60689	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66723	0.2818	M	0.70595	2.14	0.38867	D	0.956614	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.51777	0.679;0.679;0.679;0.628	T	0.73830	-0.3859	9	0.87932	D	0	.	13.6656	0.62393	0.0:0.0:0.7186:0.2814	.	22085;22210;22277;29509	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	28582;22085;22277;22210;22082	ENSP00000343764:L28582F;ENSP00000434586:L22085F;ENSP00000340554:L22277F;ENSP00000352154:L22210F	ENSP00000340554:L22277F	L	-	1	0	TTN	179121151	1.000000	0.71417	0.926000	0.36857	0.991000	0.79684	2.820000	0.48057	1.354000	0.45846	-0.182000	0.12963	CTT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		284	838	0	0	0	1	0	284	838				
DENND5A	23258	broad.mit.edu	37	11	9172287	9172287	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9172287C>A	ENST00000328194.3	-	14	2866	c.2546G>T	c.(2545-2547)aGg>aTg	p.R849M	DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M|DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	849	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCAGACTTCCTACGTTCTGA	0.433																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2545-2547)aGg>aTg		DENN/MADD domain containing 5A							142.0	126.0	132.0					11																	9172287		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9172287C>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2546G>T	11.37:g.9172287C>A	ENSP00000328524:p.Arg849Met					DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M|DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M	p.R849M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			14	2866	-			849			RUN 1.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2546G>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.494366|9.494366	0.99187|0.99187	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.53|5.53	5.53|5.53	0.82687|0.82687	RUN (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77253|.	0.4103|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.994;0.998|.	D;D|.	0.70227|.	0.928;0.968|.	T|.	0.76206|.	-0.3044|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4553|19.4553	0.94884|0.94884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849;849|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	M|Y	849;849;192|19	ENSP00000328524:R849M;ENSP00000435866:R849M;ENSP00000432549:R192M|.	ENSP00000328524:R849M|.	R|X	-|-	2|3	0|2	DENND5A|DENND5A	9128863|9128863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.794000|7.794000	0.85869|0.85869	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	AGG|TAG		0.433	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		39	194	1	0	3.61848e-18	1	4.01023e-18	39	194				
TXNRD3NB	645840	broad.mit.edu	37	3	126290881	126290881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126290881G>A	ENST00000404489.2	-	2	488	c.396C>T	c.(394-396)agC>agT	p.S132S	TXNRD3NB_ENST00000383572.2_Silent_p.S132S			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	132										endometrium(1)|large_intestine(2)|skin(2)	5						gagatcatccgctgatacctg	0.473																																						ENST00000383572.2																			0				endometrium(1)|large_intestine(2)|skin(2)	5						c.(394-396)agC>agT		thioredoxin reductase 3 neighbor							242.0	219.0	227.0					3																	126290881		2203	4300	6503	SO:0001819	synonymous_variant	645840							g.chr3:126290881G>A	BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.396C>T	3.37:g.126290881G>A						TXNRD3NB_ENST00000404489.2_Silent_p.S132S	p.S132S	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN			4	874	-			132						Silent	SNP	ENST00000404489.2	37	c.396C>T	CCDS33846.1																																																																																				0.473	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783		106	437	0	0	0	1	0	106	437				
SLC27A4	10999	broad.mit.edu	37	9	131107824	131107824	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107824C>A	ENST00000300456.4	+	3	669	c.552C>A	c.(550-552)gcC>gcA	p.A184A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	184					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGAAATGGCCTCAGGTGAGC	0.642																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(550-552)gcC>gcA		solute carrier family 27 (fatty acid transporter), member 4							13.0	16.0	15.0					9																	131107824		2197	4282	6479	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131107824C>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.552C>A	9.37:g.131107824C>A						SLC27A4_ENST00000372870.1_Intron	p.A184A	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			3	669	+			184					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.552C>A	CCDS6899.1																																																																																				0.642	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			15	69	1	0	3.27435e-08	1	3.41456e-08	15	69				
PSG8	440533	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43259290G>A	ENST00000306511.4	-	4	935	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PSG8_ENST00000404209.4_Missense_Mutation_p.L280F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F|PSG8_ENST00000406636.3_Missense_Mutation_p.L158F	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448																																						ENST00000404209.4																			1	Substitution - Missense(1)	p.L280I(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(838-840)Ctc>Ttc		pregnancy specific beta-1-glycoprotein 8							73.0	79.0	77.0					19																	43259290		2202	4280	6482	SO:0001583	missense	0					extracellular region		g.chr19:43259290G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.838C>T	19.37:g.43259290G>A	ENSP00000305005:p.Leu280Phe					PSG8_ENST00000406636.3_Missense_Mutation_p.L158F|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F|PSG8_ENST00000306511.4_Missense_Mutation_p.L280F|PSG8_ENST00000600709.1_Intron	p.L280F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	934	-		Prostate(69;0.00899)	280			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.838C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	9.445	1.089014	0.20390	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	1.26	0.133	0.14766	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43875	0.1267	M	0.93550	3.43	0.09310	N	1	D;D;D;D;P;P	0.89917	0.997;1.0;1.0;0.999;0.482;0.538	D;D;D;D;B;P	0.97110	0.977;1.0;0.997;0.997;0.333;0.464	T	0.19289	-1.0310	9	0.62326	D	0.03	.	3.0739	0.06240	0.3293:0.0:0.6706:0.0	.	158;187;280;187;280;280	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	F	280;158;187;92;187;280	ENSP00000385869:L280F;ENSP00000385081:L158F;ENSP00000386090:L187F;ENSP00000305005:L280F	ENSP00000305005:L280F	L	-	1	0	PSG8	47951130	0.018000	0.18449	0.187000	0.23214	0.061000	0.15899	0.421000	0.21280	0.653000	0.30826	0.298000	0.19748	CTC		0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			196	826	0	0	0	1	0	196	826				
AK9	221264	broad.mit.edu	37	6	109850265	109850265	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109850265A>G	ENST00000424296.2	-	29	3658	c.3582T>C	c.(3580-3582)atT>atC	p.I1194I	AK9_ENST00000341338.6_Silent_p.I273I|AK9_ENST00000355283.1_Silent_p.I273I	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1194	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTCTTTTAGCAATCGTATCAA	0.313																																						ENST00000424296.2																			0											c.(3580-3582)atT>atC		adenylate kinase 9							81.0	80.0	81.0					6																	109850265		2202	4300	6502	SO:0001819	synonymous_variant	221264							g.chr6:109850265A>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3582T>C	6.37:g.109850265A>G						AK9_ENST00000341338.6_Silent_p.I273I|AK9_ENST00000355283.1_Silent_p.I273I	p.I1194I	NM_001145128.2	NP_001138600.2					29	3658	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.3582T>C	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	A	5.712	0.315939	0.10789	.	.	ENSG00000155085	ENST00000470564;ENST00000491875	.	.	.	3.99	1.55	0.23275	.	.	.	.	.	T	0.29126	0.0724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14090	-1.0485	4	.	.	.	.	3.4152	0.07373	0.6346:0.0:0.1966:0.1688	.	.	.	.	S	32;129	.	.	L	-	2	0	AKD1	109956958	0.991000	0.36638	0.970000	0.41538	0.509000	0.34042	1.034000	0.30204	0.143000	0.18926	0.533000	0.62120	TTG		0.313	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		15	309	0	0	0	1	0	15	309				
AMY2A	279	broad.mit.edu	37	1	104160181	104160181	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:104160181C>T	ENST00000414303.2	+	1	183	c.119C>T	c.(118-120)gCt>gTt	p.A40V		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	40					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	GTTGATATTGCTCTTGAATGT	0.438																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(118-120)gCt>gTt		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						232.0	193.0	206.0					1																	104160181		2201	4279	6480	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160181C>T	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.119C>T	1.37:g.104160181C>T	ENSP00000397582:p.Ala40Val						p.A40V	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	183	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	40					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.119C>T	CCDS783.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.039061	0.75617	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	3.22	3.22	0.36961	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91673	0.5352	9	0.87932	D	0	.	14.5293	0.67912	0.0:1.0:0.0:0.0	.	40;40	B9EJG1;P04746	.;AMYP_HUMAN	V	40	.	ENSP00000377509:A40V	A	+	2	0	AMY2A	103961704	1.000000	0.71417	0.990000	0.47175	0.742000	0.42306	7.069000	0.76755	1.784000	0.52394	0.455000	0.32223	GCT		0.438	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		21	730	0	0	0	1	0	21	730				
PCDH10	57575	broad.mit.edu	37	4	134084171	134084171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134084171C>A	ENST00000264360.5	+	4	3663	c.2837C>A	c.(2836-2838)gCt>gAt	p.A946D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	946					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAATGTAAAGCTCTGGGCCAC	0.483																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2836-2838)gCt>gAt		protocadherin 10							181.0	152.0	162.0					4																	134084171		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084171C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2837C>A	4.37:g.134084171C>A	ENSP00000264360:p.Ala946Asp						p.A946D	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3663	+			946					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2837C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889390	0.91889	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.94	4.94	0.65067	.	0.000000	0.36268	N	0.002697	T	0.58821	0.2149	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.59726	-0.7400	10	0.51188	T	0.08	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	946	Q9P2E7	PCD10_HUMAN	D	946	ENSP00000264360:A946D	ENSP00000264360:A946D	A	+	2	0	PCDH10	134303621	1.000000	0.71417	0.959000	0.39883	0.921000	0.55340	7.278000	0.78587	2.717000	0.92951	0.650000	0.86243	GCT		0.483	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		68	381	1	0	3.78398e-24	1	4.31794e-24	68	381				
ACSF3	197322	broad.mit.edu	37	16	89167319	89167319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167319G>A	ENST00000317447.4	+	3	607	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	77					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CGCAGCCTTCGCCTGTCCCAG	0.652																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(229-231)cGc>cAc		acyl-CoA synthetase family member 3							39.0	40.0	39.0					16																	89167319		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167319G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.230G>A	16.37:g.89167319G>A	ENSP00000320646:p.Arg77His					ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H|ACSF3_ENST00000378345.4_Intron	p.R77H	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	607	+			77					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.230G>A	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	8.880	0.951502	0.18431	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.51071	0.72;0.72;0.72	5.27	2.27	0.28462	AMP-dependent synthetase/ligase (1);	0.754413	0.13650	N	0.372372	T	0.49253	0.1546	M	0.87682	2.9	0.09310	N	1	B	0.22983	0.078	B	0.21546	0.035	T	0.49808	-0.8900	10	0.49607	T	0.09	-11.1186	5.0448	0.14477	0.3073:0.1421:0.5507:0.0	.	77	Q4G176	ACSF3_HUMAN	H	77	ENSP00000320646:R77H;ENSP00000440734:R77H;ENSP00000384627:R77H	ENSP00000320646:R77H	R	+	2	0	ACSF3	87694820	0.002000	0.14202	0.222000	0.23844	0.268000	0.26511	1.032000	0.30178	0.235000	0.21160	0.655000	0.94253	CGC		0.652	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		55	288	0	0	0	1	0	55	288				
FCGBP	8857	broad.mit.edu	37	19	40433216	40433216	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433216T>C	ENST00000221347.6	-	2	1060	c.1053A>G	c.(1051-1053)gtA>gtG	p.V351V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	351	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTGGTACACTCTTGA	0.592																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1051-1053)gtA>gtG		Fc fragment of IgG binding protein							73.0	59.0	64.0					19																	40433216		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433216T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1053A>G	19.37:g.40433216T>C							p.V351V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1060	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		351			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.1053A>G	CCDS12546.1																																																																																				0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		36	203	0	0	0	1	0	36	203				
UNC5C	8633	broad.mit.edu	37	4	96163599	96163599	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163599A>C	ENST00000453304.1	-	7	1437	c.1089T>G	c.(1087-1089)acT>acG	p.T363T	UNC5C_ENST00000506749.1_Silent_p.T363T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	363	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGCCCATCAGTGCAGTTCT	0.517																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1087-1089)acT>acG		unc-5 homolog C (C. elegans)							64.0	55.0	58.0					4																	96163599		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163599A>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1089T>G	4.37:g.96163599A>C						UNC5C_ENST00000506749.1_Silent_p.T363T	p.T363T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1437	-		Hepatocellular(203;0.114)	363			TSP type-1 2.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1089T>G	CCDS3643.1																																																																																				0.517	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		48	155	0	0	0	1	0	48	155				
BAAT	570	broad.mit.edu	37	9	104130535	104130535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104130535C>T	ENST00000395051.3	-	2	606	c.536G>A	c.(535-537)aGc>aAc	p.S179N	BAAT_ENST00000259407.2_Missense_Mutation_p.S179N			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	179					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCTAGGAGGCTGGCCCGAAA	0.473																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(535-537)aGc>aAc		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						58.0	57.0	58.0					9																	104130535		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104130535C>T	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.536G>A	9.37:g.104130535C>T	ENSP00000378491:p.Ser179Asn					BAAT_ENST00000395051.3_Missense_Mutation_p.S179N	p.S179N	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			3	644	-		Acute lymphoblastic leukemia(62;0.0559)	179					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.536G>A	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601316	0.46423	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.42131	0.98;0.98	4.47	4.47	0.54385	.	0.075012	0.56097	D	0.000039	T	0.71091	0.3299	M	0.92738	3.34	0.34653	D	0.721905	D	0.89917	1.0	D	0.74348	0.983	D	0.84447	0.0586	10	0.87932	D	0	-14.1565	14.709	0.69215	0.0:1.0:0.0:0.0	.	179	Q14032	BAAT_HUMAN	N	179	ENSP00000259407:S179N;ENSP00000378491:S179N	ENSP00000259407:S179N	S	-	2	0	BAAT	103170356	0.041000	0.20044	0.970000	0.41538	0.167000	0.22549	3.001000	0.49488	2.328000	0.79073	0.561000	0.74099	AGC		0.473	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			62	250	0	0	0	1	0	62	250				
TUBAL3	79861	broad.mit.edu	37	10	5435806	5435806	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5435806T>G	ENST00000380419.3	-	4	1052	c.1015A>C	c.(1015-1017)Atc>Ctc	p.I339L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	339					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGCTGCGATTGCTGCATTC	0.557																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(1015-1017)Atc>Ctc		tubulin, alpha-like 3							98.0	87.0	90.0					10																	5435806		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435806T>G	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1015A>C	10.37:g.5435806T>G	ENSP00000369784:p.Ile339Leu					TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	p.I339L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			4	1052	-			339					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.1015A>C	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718580	0.48622	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.81078	-1.45;-1.45	4.41	4.41	0.53225	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	D	0.000045	D	0.89846	0.6833	M	0.83603	2.65	0.45307	D	0.998303	P;P	0.46784	0.884;0.766	D;D	0.79784	0.993;0.987	D	0.91185	0.4979	10	0.87932	D	0	.	13.1953	0.59734	0.0:0.0:0.0:1.0	.	299;339	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	L	339;299	ENSP00000369784:I339L;ENSP00000418799:I299L	ENSP00000369784:I339L	I	-	1	0	TUBAL3	5425806	1.000000	0.71417	0.199000	0.23439	0.008000	0.06430	7.851000	0.86920	1.949000	0.56562	0.528000	0.53228	ATC		0.557	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		44	199	0	0	0	1	0	44	199				
AGAP7P	653268	broad.mit.edu	37	10	51465483	51465483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465483C>T	ENST00000374095.5	-	7	1098	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCCAATGTGGCTAGGGATGGC	0.463																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(973-975)Gcc>Acc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							134.0	158.0	150.0					10																	51465483		2197	4297	6494	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465483C>T																												ENST00000374095.5:c.973G>A	10.37:g.51465483C>T	ENSP00000363208:p.Ala325Thr						p.A325T	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1098	-			325			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.973G>A	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400457	0.42613	.	.	ENSG00000204169	ENST00000374095	T	0.56776	0.44	.	.	.	Pleckstrin homology domain (3);	0.064498	0.64402	D	0.000011	T	0.65123	0.2661	M	0.79693	2.465	0.36548	D	0.871687	D	0.53462	0.96	D	0.63703	0.917	T	0.66520	-0.5903	9	0.51188	T	0.08	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	325	Q5VUJ5	AGAP7_HUMAN	T	325	ENSP00000363208:A325T	ENSP00000363208:A325T	A	-	1	0	AGAP7	51135489	0.967000	0.33354	0.011000	0.14972	0.011000	0.07611	2.985000	0.49362	0.172000	0.19760	0.175000	0.17021	GCC		0.463	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			259	1028	0	0	0	1	0	259	1028				
ZYX	7791	broad.mit.edu	37	7	143085748	143085748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143085748C>T	ENST00000322764.5	+	7	1656	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000449423.2_Silent_p.Y350Y|ZYX_ENST00000392910.2_Silent_p.Y280Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	437	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGGGCTGTTACACTGTGAGTC	0.657																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(1309-1311)taC>taT		zyxin							66.0	69.0	68.0					7																	143085748		2203	4300	6503	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143085748C>T	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1311C>T	7.37:g.143085748C>T						ZYX_ENST00000392910.2_Silent_p.Y280Y|ZYX_ENST00000449423.2_Silent_p.Y350Y	p.Y437Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			7	1656	+	Melanoma(164;0.205)		437			LIM zinc-binding 1.		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.1311C>T	CCDS5883.1																																																																																				0.657	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		11	372	0	0	0	1	0	11	372				
PTDSS2	81490	broad.mit.edu	37	11	488249	488249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:488249C>T	ENST00000308020.5	+	7	848	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	224					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GCGTGATGTTCGAGTTCCTGG	0.637																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(670-672)ttC>ttT		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						149.0	125.0	133.0					11																	488249		2203	4300	6503	SO:0001819	synonymous_variant	81490					integral to membrane		g.chr11:488249C>T	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.672C>T	11.37:g.488249C>T							p.F224F	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	7	848	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	224						Silent	SNP	ENST00000308020.5	37	c.672C>T	CCDS7696.1																																																																																				0.637	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			50	237	0	0	0	1	0	50	237				
DCDC1	341019	broad.mit.edu	37	11	30938573	30938573	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30938573T>G	ENST00000597505.1	-	24	3295	c.3296A>C	c.(3295-3297)gAt>gCt	p.D1099A	DCDC1_ENST00000339794.5_Missense_Mutation_p.D178A|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TACGTGTGAATCTCTATCAAG	0.408																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(3295-3297)gAt>gCt		doublecortin domain containing 1							130.0	128.0	129.0					11																	30938573		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30938573T>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3296A>C	11.37:g.30938573T>G	ENSP00000472625:p.Asp1099Ala					DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.D178A	p.D1099A			P59894	DCDC1_HUMAN			24	3295	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.3296A>C		.	.	.	.	.	.	.	.	.	.	T	15.15	2.747505	0.49257	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000030	T	0.64000	0.2559	M	0.72479	2.2	0.29768	N	0.834983	D	0.69078	0.997	P	0.61397	0.888	T	0.66424	-0.5927	9	0.54805	T	0.06	-19.8465	13.3972	0.60861	0.0:0.0:0.0:1.0	.	178	Q6ZRR9	DCDC5_HUMAN	A	178	.	ENSP00000341700:D178A	D	-	2	0	DCDC5	30895149	1.000000	0.71417	0.920000	0.36463	0.108000	0.19459	2.938000	0.48987	2.140000	0.66376	0.459000	0.35465	GAT		0.408	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		94	382	0	0	0	1	0	94	382				
MIER2	54531	broad.mit.edu	37	19	308850	308850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:308850C>T	ENST00000264819.4	-	11	1070	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGCTGGGCGAAGTAGTCG	0.677																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1060-1062)Gcc>Acc		mesoderm induction early response 1, family member 2							59.0	54.0	55.0					19																	308850		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:308850C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1060G>A	19.37:g.308850C>T	ENSP00000264819:p.Ala354Thr						p.A354T	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1070	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	354					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.1060G>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568703	0.45798	.	.	ENSG00000105556	ENST00000264819	T	0.29397	1.57	4.49	1.07	0.20283	.	0.498482	0.16667	N	0.204525	T	0.13670	0.0331	N	0.12637	0.245	0.22389	N	0.99915	B	0.18310	0.027	B	0.14578	0.011	T	0.17440	-1.0369	10	0.36615	T	0.2	-10.9915	3.6206	0.08094	0.2274:0.1757:0.0:0.5968	.	354	Q8N344	MIER2_HUMAN	T	354	ENSP00000264819:A354T	ENSP00000264819:A354T	A	-	1	0	MIER2	259850	1.000000	0.71417	0.987000	0.45799	0.960000	0.62799	3.052000	0.49893	-0.094000	0.12374	0.457000	0.33378	GCC		0.677	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		45	355	0	0	0	1	0	45	355				
SF3B5	83443	broad.mit.edu	37	6	144416556	144416556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144416556T>C	ENST00000367569.2	-	1	198	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	27					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TCCCACTTGGTGGTGTCGGCG	0.592																																						ENST00000367569.2																			0				lung(2)|prostate(1)	3						c.(79-81)Acc>Gcc		splicing factor 3b, subunit 5, 10kDa							87.0	72.0	77.0					6																	144416556		2203	4300	6503	SO:0001583	missense	83443				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		g.chr6:144416556T>C	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.79A>G	6.37:g.144416556T>C	ENSP00000356541:p.Thr27Ala						p.T27A	NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)	1	198	-			27					B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	37	c.79A>G	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111018	0.77210	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.53	5.53	0.82687	.	0.093132	0.64402	D	0.000001	T	0.43765	0.1262	.	.	.	0.58432	D	0.999996	B	0.09022	0.002	B	0.09377	0.004	T	0.48703	-0.9012	8	0.72032	D	0.01	.	15.4975	0.75666	0.0:0.0:0.0:1.0	.	27	Q9BWJ5	SF3B5_HUMAN	A	27	.	ENSP00000356541:T27A	T	-	1	0	SF3B5	144458249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.799000	0.85936	2.324000	0.78689	0.533000	0.62120	ACC		0.592	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	NM_031287		61	259	0	0	0	1	0	61	259				
LMX1B	4010	broad.mit.edu	37	9	129458638	129458638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458638C>T	ENST00000373474.4	+	8	1124	c.1117C>T	c.(1117-1119)Ctc>Ttc	p.L373F	LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F|LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F|LMX1B_ENST00000355497.5_Missense_Mutation_p.L377F|LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	373					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGACTGCTTCCTCGGCTCCTC	0.627									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(1129-1131)Ctc>Ttc		LIM homeobox transcription factor 1, beta							113.0	113.0	113.0					9																	129458638		2203	4300	6503	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129458638C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.1117C>T	9.37:g.129458638C>T	ENSP00000362573:p.Leu373Phe					LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F|LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F|LMX1B_ENST00000373474.4_Missense_Mutation_p.L373F|LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F	p.L377F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			8	1136	+			350					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.1129C>T	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750558	0.49257	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.19	4.29	0.51040	.	0.058355	0.64402	D	0.000005	T	0.76962	0.4061	L	0.43923	1.385	0.50039	D	0.999844	P;P;P	0.49307	0.868;0.922;0.919	P;P;P	0.53912	0.494;0.526;0.737	T	0.73474	-0.3971	10	0.31617	T	0.26	.	9.3609	0.38195	0.0:0.8364:0.0:0.1636	.	354;350;366	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	F	366;373;377;343	ENSP00000436930:L366F;ENSP00000362573:L373F;ENSP00000347684:L377F;ENSP00000390923:L343F	ENSP00000347684:L377F	L	+	1	0	LMX1B	128498459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.768000	0.38511	1.183000	0.42943	0.561000	0.74099	CTC		0.627	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			209	817	0	0	0	1	0	209	817				
LRP8	7804	broad.mit.edu	37	1	53716509	53716509	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53716509A>G	ENST00000306052.6	-	17	2630	c.2529T>C	c.(2527-2529)agT>agC	p.S843S	LRP8_ENST00000465675.1_Silent_p.S396S|LRP8_ENST00000354412.3_Silent_p.S639S|LRP8_ENST00000347547.2_Silent_p.S673S|LRP8_ENST00000371454.2_Silent_p.S843S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	843					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCAGGTATCCACTCATGCACA	0.498																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(2527-2529)agT>agC		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							171.0	150.0	157.0					1																	53716509		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53716509A>G	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2529T>C	1.37:g.53716509A>G						LRP8_ENST00000354412.3_Silent_p.S639S|LRP8_ENST00000465675.1_Silent_p.S396S|LRP8_ENST00000371454.2_Silent_p.S843S|LRP8_ENST00000347547.2_Silent_p.S673S	p.S843S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			17	2630	-			843					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.2529T>C	CCDS578.1																																																																																				0.498	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		39	355	0	0	0	1	0	39	355				
GRIN2C	2905	broad.mit.edu	37	17	72848164	72848164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72848164T>C	ENST00000293190.5	-	3	1132	c.986A>G	c.(985-987)gAg>gGg	p.E329G	GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	329					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTAGAAGGCCTCCCGGGCAGG	0.721																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(985-987)gAg>gGg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						7.0	8.0	8.0					17																	72848164		2013	4009	6022	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72848164T>C		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.986A>G	17.37:g.72848164T>C	ENSP00000293190:p.Glu329Gly					GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G	p.E329G	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			3	1132	-	all_lung(278;0.172)|Lung NSC(278;0.207)		329					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.986A>G	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154715	0.38021	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.05199	3.48	4.48	4.48	0.54585	.	0.060840	0.64402	D	0.000004	T	0.05181	0.0138	N	0.21448	0.665	0.34608	D	0.717263	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.22556	-1.0213	10	0.33940	T	0.23	.	11.2339	0.48929	0.0:0.0:0.1642:0.8358	.	363;329	Q8IW23;Q14957	.;NMDE3_HUMAN	G	329;363	ENSP00000293190:E329G	ENSP00000293190:E329G	E	-	2	0	GRIN2C	70359759	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.358000	0.34102	2.003000	0.58678	0.459000	0.35465	GAG		0.721	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			22	73	0	0	0	1	0	22	73				
SLCO1A2	6579	broad.mit.edu	37	12	21487720	21487720	+	De_novo_Start_InFrame	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21487720A>C	ENST00000452078.1	-	0	112				SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000390670.3_5'Flank|SLCO1A2_ENST00000307378.6_Intron	NM_021094.3	NP_066580.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	AAGTGCTGAAAATGAACAACA	0.284																																						ENST00000452078.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48								solute carrier organic anion transporter family, member 1A2																																						6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21487720A>C		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259		12.37:g.21487720A>C						SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron		NM_021094.3	NP_066580.1	P46721	SO1A2_HUMAN			0	112	-								Q9UGP7|Q9UL38	Translation_Start_Site	SNP	ENST00000452078.1	37		CCDS8686.1																																																																																				0.284	SLCO1A2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_021094		14	54	0	0	0	1	0	14	54				
BMP8B	656	broad.mit.edu	37	1	40229424	40229424	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40229424C>T	ENST00000372827.3	-	5	1283	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	PPIE_ENST00000356511.2_3'UTR|PPIE_ENST00000372830.1_3'UTR|BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	303					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGCTCGTGCCGACGGCAGAC	0.557																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(907-909)cGg>cAg		bone morphogenetic protein 8b							74.0	79.0	77.0					1																	40229424		2203	4299	6502	SO:0001583	missense	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40229424C>T	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.908G>A	1.37:g.40229424C>T	ENSP00000361915:p.Arg303Gln					PPIE_ENST00000356511.2_3'UTR|BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q|PPIE_ENST00000372830.1_3'UTR	p.R303Q	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	1283	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	303					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.908G>A	CCDS444.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611999	0.87258	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	D;D	0.90069	-2.61;-2.45	4.02	4.02	0.46733	Transforming growth factor-beta, C-terminal (3);	0.235955	0.40908	U	0.000982	D	0.96194	0.8759	H	0.96943	3.91	0.39632	D	0.970188	D;D	0.89917	1.0;1.0	D;D	0.72338	0.943;0.977	D	0.98128	1.0429	10	0.72032	D	0.01	.	15.4955	0.75646	0.0:1.0:0.0:0.0	.	328;303	E7EMY8;P34820	.;BMP8B_HUMAN	Q	303;328	ENSP00000361915:R303Q;ENSP00000380518:R328Q	ENSP00000361915:R303Q	R	-	2	0	BMP8B	40002011	0.961000	0.32948	0.989000	0.46669	0.997000	0.91878	3.414000	0.52693	2.249000	0.74217	0.650000	0.86243	CGG		0.557	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		52	499	0	0	0	1	0	52	499				
SPATA25	128497	broad.mit.edu	37	20	44515471	44515471	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44515471C>T	ENST00000372519.3	-	2	413	c.369G>A	c.(367-369)agG>agA	p.R123R		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	123					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCATCAGGGGCCTAGGCCTGC	0.632																																						ENST00000372519.3																			0											c.(367-369)agG>agA		spermatogenesis associated 25							77.0	81.0	80.0					20																	44515471		2203	4300	6503	SO:0001819	synonymous_variant	128497					integral to membrane		g.chr20:44515471C>T	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.369G>A	20.37:g.44515471C>T							p.R123R	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	413	-			123						Silent	SNP	ENST00000372519.3	37	c.369G>A	CCDS13383.1																																																																																				0.632	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			128	583	0	0	0	1	0	128	583				
XIRP2	129446	broad.mit.edu	37	2	168102560	168102560	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102560A>C	ENST00000409195.1	+	9	4747	c.4658A>C	c.(4657-4659)aAa>aCa	p.K1553T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1378					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAGCATTAAAGAAACCTTA	0.358																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4657-4659)aAa>aCa		xin actin-binding repeat containing 2							54.0	51.0	52.0					2																	168102560		1810	4077	5887	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102560A>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4658A>C	2.37:g.168102560A>C	ENSP00000386840:p.Lys1553Thr					XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.K1553T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4747	+			1378					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4658A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868527	0.51588	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03094	4.05;4.05;4.05	5.56	5.56	0.83823	.	0.051031	0.85682	D	0.000000	T	0.14743	0.0356	L	0.56769	1.78	0.48040	D	0.999574	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.963;0.983;0.99	T	0.00409	-1.1757	10	0.48119	T	0.1	-27.2337	14.6939	0.69107	1.0:0.0:0.0:0.0	.	1378;1378;1331	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1553;1553;1331	ENSP00000386840:K1553T;ENSP00000295237:K1553T;ENSP00000387255:K1331T	ENSP00000295237:K1553T	K	+	2	0	XIRP2	167810806	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.966000	0.63715	2.122000	0.65172	0.460000	0.39030	AAA		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		94	301	0	0	0	1	0	94	301				
LSM14A	26065	broad.mit.edu	37	19	34710328	34710328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710328C>T	ENST00000433627.5	+	7	889	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C|LSM14A_ENST00000544216.3_Missense_Mutation_p.R272C	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	272					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAGAGGGCGTGGGGGTCA	0.438																																						ENST00000544216.3																			1	Substitution - Missense(1)	p.R272C(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(814-816)Cgt>Tgt		LSM14A, SCD6 homolog A (S. cerevisiae)							68.0	79.0	75.0					19																	34710328		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710328C>T	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.814C>T	19.37:g.34710328C>T	ENSP00000413964:p.Arg272Cys					LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C|LSM14A_ENST00000433627.5_Missense_Mutation_p.R272C	p.R272C	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			7	891	+	Esophageal squamous(110;0.162)		272					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.814C>T	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.190986	0.58017	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.38401	1.18;1.16;1.14	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.80746	2.51	0.80722	D	1	B;D;B	0.89917	0.362;1.0;0.263	B;D;B	0.79784	0.117;0.993;0.051	T	0.62548	-0.6831	10	0.48119	T	0.1	-10.3844	14.8295	0.70137	0.1438:0.8562:0.0:0.0	.	231;272;272	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	C	272;272;231	ENSP00000446271:R272C;ENSP00000413964:R272C;ENSP00000446451:R231C	ENSP00000314768:R272C	R	+	1	0	LSM14A	39402168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.529000	0.60588	2.734000	0.93682	0.655000	0.94253	CGT		0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		86	532	0	0	0	1	0	86	532				
RPL18	6141	broad.mit.edu	37	19	49119337	49119337	+	Splice_Site	SNP	G	G	A	rs370747953		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49119337G>A	ENST00000549920.1	-	5	812	c.420C>T	c.(418-420)tcC>tcT	p.S140S	FAM83E_ENST00000595110.1_5'Flank|RPL18_ENST00000549273.1_Splice_Site_p.S140S|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000550645.1_Intron|RPL18_ENST00000552588.1_Splice_Site_p.S111S	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	140					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		ATCACTCACCGGAGAGCAGGA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18536	0.0		0.001	False		,,,				2504	0.0					ENST00000549273.1																			0				cervix(1)|kidney(2)	3						c.e5+1		ribosomal protein L18		G		0,4406		0,0,2203	83.0	70.0	75.0		420	-2.7	1.0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	RPL18	NM_000979.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		140/189	49119337	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6141				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr19:49119337G>A	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"""L ribosomal proteins"""	10310	protein-coding gene	gene with protein product	"""60S ribosomal protein L18"""	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.421+1C>T	19.37:g.49119337G>A						RPL18_ENST00000550645.1_Intron|RPL18_ENST00000549920.1_Splice_Site_p.S140_splice|RPL18_ENST00000552588.1_Splice_Site_p.S111_splice	p.S140_splice			Q07020	RL18_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)	5	453	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	140					F8VWC5|Q8WTZ6	Splice_Site	SNP	ENST00000549920.1	37	c.421_splice	CCDS12726.1	.	.	.	.	.	.	.	.	.	.	G	4.252	0.045780	0.08196	0.0	1.16E-4	ENSG00000063177	ENST00000084795;ENST00000546623	.	.	.	4.74	-2.69	0.06022	.	.	.	.	.	T	0.50257	0.1605	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40590	-0.9555	4	.	.	.	-12.0717	6.6251	0.22824	0.4645:0.0:0.4143:0.1212	.	.	.	.	W	142;119	.	.	R	-	1	2	RPL18	53811149	0.977000	0.34250	0.956000	0.39512	0.117000	0.20001	0.122000	0.15687	-0.953000	0.03645	-1.202000	0.01658	CGG		0.652	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	NM_000979	Silent	15	377	0	0	0	1	0	15	377				
PHC2	1912	broad.mit.edu	37	1	33794638	33794638	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33794638G>T	ENST00000257118.5	-	13	2308	c.2255C>A	c.(2254-2256)cCc>cAc	p.P752H	RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H|PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H|PHC2_ENST00000373422.3_Missense_Mutation_p.P358H	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	752					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGAGATGGGTGACAAGGG	0.587																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2254-2256)cCc>cAc		polyhomeotic homolog 2 (Drosophila)							107.0	98.0	101.0					1																	33794638		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33794638G>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2255C>A	1.37:g.33794638G>T	ENSP00000257118:p.Pro752His					PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H|PHC2_ENST00000373422.3_Missense_Mutation_p.P358H|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H	p.P752H	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			13	2308	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	752					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.2255C>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852429	0.91355	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.55413	1.52;1.07;0.52;1.5	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.995;0.995;0.995;0.999	P;P;P;D	0.66497	0.816;0.816;0.816;0.944	T	0.69525	-0.5122	10	0.66056	D	0.02	-19.8649	17.6713	0.88218	0.0:0.0:1.0:0.0	.	753;724;752;167	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	H	723;752;358;217;329;753;217	ENSP00000389436:P723H;ENSP00000257118:P752H;ENSP00000362521:P358H;ENSP00000391440:P753H	ENSP00000257118:P752H	P	-	2	0	PHC2	33567225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.128000	0.94424	2.771000	0.95319	0.561000	0.74099	CCC		0.587	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		45	462	1	0	2.37825e-27	1	2.75276e-27	45	462				
PNMA2	10687	broad.mit.edu	37	8	26365196	26365196	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26365196T>G	ENST00000522362.2	-	3	1970	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	359					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		TCCCTCATGATTCCAGCGGCC	0.478																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(1075-1077)aAt>aCt		paraneoplastic Ma antigen 2							101.0	103.0	102.0					8																	26365196		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365196T>G		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.1076A>C	8.37:g.26365196T>G	ENSP00000429344:p.Asn359Thr						p.N359T	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1970	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	359					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.1076A>C	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.238753	0.22711	.	.	ENSG00000240694	ENST00000522362	T	0.08634	3.07	4.32	0.602	0.17535	.	.	.	.	.	T	0.05135	0.0137	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.39396	-0.9616	9	0.62326	D	0.03	-3.4143	2.7839	0.05368	0.218:0.2161:0.0:0.566	.	359	Q9UL42	PNMA2_HUMAN	T	359	ENSP00000429344:N359T	ENSP00000429344:N359T	N	-	2	0	PNMA2	26421113	0.077000	0.21312	0.091000	0.20842	0.009000	0.06853	0.103000	0.15292	0.101000	0.17610	0.533000	0.62120	AAT		0.478	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		132	622	0	0	0	1	0	132	622				
PRKCE	5581	broad.mit.edu	37	2	46234679	46234679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46234679C>T	ENST00000306156.3	+	9	1469	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	PRKCE_ENST00000394874.1_Missense_Mutation_p.S104F	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	381					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GCAGCATCGTCTCCTGATGGC	0.542																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(1141-1143)tCt>tTt		protein kinase C, epsilon							54.0	57.0	56.0					2																	46234679		1833	3846	5679	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46234679C>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1142C>T	2.37:g.46234679C>T	ENSP00000306124:p.Ser381Phe					PRKCE_ENST00000394874.1_Missense_Mutation_p.S104F	p.S381F	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		9	1469	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	381					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.1142C>T	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901205	0.17760	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.69926	-0.44;0.28	5.53	3.7	0.42460	.	0.437979	0.26518	N	0.023936	T	0.46073	0.1374	N	0.08118	0	0.24205	N	0.995496	B	0.32010	0.351	B	0.25506	0.061	T	0.38929	-0.9638	10	0.51188	T	0.08	.	16.0086	0.80380	0.0:0.7317:0.2683:0.0	.	381	Q02156	KPCE_HUMAN	F	381;104	ENSP00000306124:S381F;ENSP00000378341:S104F	ENSP00000306124:S381F	S	+	2	0	PRKCE	46088183	0.977000	0.34250	0.006000	0.13384	0.007000	0.05969	3.915000	0.56409	0.838000	0.34948	0.655000	0.94253	TCT		0.542	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			106	311	0	0	0	1	0	106	311				
GCDH	2639	broad.mit.edu	37	19	13008537	13008537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13008537C>A	ENST00000222214.5	+	11	1314	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y|GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	368					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAGATGGTTTCTCTGCTGAAG	0.602																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(1102-1104)tCt>tAt		glutaryl-CoA dehydrogenase							122.0	131.0	128.0					19																	13008537		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008537C>A	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1103C>A	19.37:g.13008537C>A	ENSP00000222214:p.Ser368Tyr					GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y|GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y	p.S368Y			Q92947	GCDH_HUMAN			11	1314	+			368					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.1103C>A	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334551	0.81801	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.96967	-4.19;-4.19;-4.19	5.6	5.6	0.85130	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.99794	4.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98591	1.0654	10	0.87932	D	0	.	17.0969	0.86637	0.0:1.0:0.0:0.0	.	324;204;368;368	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	Y	368;368;324	ENSP00000394872:S368Y;ENSP00000222214:S368Y;ENSP00000394821:S324Y	ENSP00000222214:S368Y	S	+	2	0	GCDH	12869537	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	7.420000	0.80191	2.644000	0.89710	0.655000	0.94253	TCT		0.602	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			225	951	1	0	4.5173e-83	1	5.78256e-83	225	951				
GNRH2	2797	broad.mit.edu	37	20	3025459	3025459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3025459C>T	ENST00000245983.2	+	3	340	c.289C>T	c.(289-291)Cga>Tga	p.R97*	GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*|GNRH2_ENST00000380347.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	97					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						TCACAGGAAGCGACACCTGGC	0.637																																						ENST00000380347.2																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(268-270)Cga>Tga		gonadotropin-releasing hormone 2							34.0	32.0	33.0					20																	3025459		2203	4300	6503	SO:0001587	stop_gained	2797				multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr20:3025459C>T	AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"""Endogenous ligands"""	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.289C>T	20.37:g.3025459C>T	ENSP00000245983:p.Arg97*					GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*|GNRH2_ENST00000245983.2_Nonsense_Mutation_p.R97*	p.R90*			O43555	GON2_HUMAN			2	673	+			97					Q14C68|Q14C69|Q9BYN9|Q9BYP0	Nonsense_Mutation	SNP	ENST00000245983.2	37	c.268C>T	CCDS13040.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733969	0.48939	.	.	ENSG00000125787	ENST00000245983;ENST00000359100;ENST00000359987;ENST00000380347;ENST00000380346	.	.	.	4.44	2.47	0.30058	.	0.836298	0.09727	N	0.763668	.	.	.	.	.	.	0.38892	D	0.957146	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2486	0.26135	0.0:0.7859:0.0:0.2141	.	.	.	.	X	97;90;89;90;89	.	ENSP00000245983:R97X	R	+	1	2	GNRH2	2973459	0.998000	0.40836	0.047000	0.18901	0.031000	0.12232	2.886000	0.48578	0.571000	0.29365	0.655000	0.94253	CGA		0.637	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077694.2	NM_001501		20	104	0	0	0	1	0	20	104				
PM20D2	135293	broad.mit.edu	37	6	89868116	89868116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89868116G>A	ENST00000275072.4	+	5	1080	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	329						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGCCTATATGGAAAATGGAAG	0.318																																						ENST00000275072.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12						c.(985-987)Gaa>Aaa		peptidase M20 domain containing 2							96.0	106.0	103.0					6																	89868116		2203	4299	6502	SO:0001583	missense	135293						hydrolase activity	g.chr6:89868116G>A	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.985G>A	6.37:g.89868116G>A	ENSP00000275072:p.Glu329Lys						p.E329K	NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	5	1080	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	329					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	c.985G>A	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129926	0.21041	.	.	ENSG00000146281	ENST00000275072	T	0.43688	0.94	5.32	5.32	0.75619	.	0.148551	0.64402	D	0.000011	T	0.14056	0.0340	N	0.17248	0.465	0.38219	D	0.940694	B	0.15719	0.014	B	0.20577	0.03	T	0.10109	-1.0644	10	0.07030	T	0.85	-15.6414	19.0253	0.92930	0.0:0.0:1.0:0.0	.	329	Q8IYS1	P20D2_HUMAN	K	329	ENSP00000275072:E329K	ENSP00000275072:E329K	E	+	1	0	PM20D2	89924835	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	6.688000	0.74557	2.490000	0.84030	0.585000	0.79938	GAA		0.318	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		84	423	0	0	0	1	0	84	423				
PTGDS	5730	broad.mit.edu	37	9	139873509	139873509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873509C>T	ENST00000371625.3	+	2	253	c.179C>T	c.(178-180)gCg>gTg	p.A60V	PTGDS_ENST00000460340.1_3'UTR|RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Missense_Mutation_p.A60V	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	60					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGAAGAAGGCGGCGTTGTCC	0.687																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(178-180)gCg>gTg		prostaglandin D2 synthase 21kDa (brain)							58.0	58.0	58.0					9																	139873509		2203	4300	6503	SO:0001583	missense	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139873509C>T	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.179C>T	9.37:g.139873509C>T	ENSP00000360687:p.Ala60Val					PTGDS_ENST00000371625.3_Missense_Mutation_p.A60V|PTGDS_ENST00000460340.1_3'UTR	p.A60V			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	2	254	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	60					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.179C>T	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	15.83	2.948219	0.53186	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	4.38	-0.632	0.11523	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.177410	0.06362	N	0.711815	T	0.08313	0.0207	L	0.53249	1.67	0.09310	N	1	P	0.42692	0.787	B	0.20955	0.032	T	0.40553	-0.9557	10	0.33940	T	0.23	-14.0698	9.1141	0.36746	0.5396:0.3473:0.113:0.0	.	60	P41222	PTGDS_HUMAN	V	60	ENSP00000224167:A60V;ENSP00000392633:A60V;ENSP00000360687:A60V;ENSP00000360685:A60V	ENSP00000224167:A60V	A	+	2	0	PTGDS	138993330	0.000000	0.05858	0.015000	0.15790	0.680000	0.39746	-0.207000	0.09384	-0.111000	0.12001	0.436000	0.28706	GCG		0.687	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		61	269	0	0	0	1	0	61	269				
USH2A	7399	broad.mit.edu	37	1	216465665	216465665	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216465665A>C	ENST00000307340.3	-	10	2078	c.1692T>G	c.(1690-1692)ggT>ggG	p.G564G	USH2A_ENST00000366943.2_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	564	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACTTGATCACCTTGGCGGA	0.383										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1690-1692)ggT>ggG		Usher syndrome 2A (autosomal recessive, mild)							101.0	94.0	96.0					1																	216465665		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216465665A>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1692T>G	1.37:g.216465665A>C		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G	p.G564G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	10	2078	-			564			Laminin EGF-like 1.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.1692T>G	CCDS31025.1																																																																																				0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		28	366	0	0	0	1	0	28	366				
OR4K1	79544	broad.mit.edu	37	14	20404198	20404198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404198G>T	ENST00000285600.4	+	1	432	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAGATTTATAGCCATATGTAA	0.438																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(373-375)Gcc>Tcc		olfactory receptor, family 4, subfamily K, member 1							136.0	130.0	132.0					14																	20404198		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404198G>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.373G>T	14.37:g.20404198G>T	ENSP00000285600:p.Ala125Ser						p.A125S	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	432	+	all_cancers(95;0.00108)		125					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.373G>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.936499	0.73442	.	.	ENSG00000155249	ENST00000285600	T	0.01209	5.17	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.15089	0.0364	H	0.98786	4.33	0.38505	D	0.948311	D	0.89917	1.0	D	0.91635	0.999	T	0.30416	-0.9979	10	0.87932	D	0	.	15.7026	0.77552	0.0:0.0:1.0:0.0	.	125	Q8NGD4	OR4K1_HUMAN	S	125	ENSP00000285600:A125S	ENSP00000285600:A125S	A	+	1	0	OR4K1	19474038	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	6.825000	0.75293	2.557000	0.86248	0.655000	0.94253	GCC		0.438	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			77	641	1	0	3.86735e-44	1	4.73008e-44	77	641				
SLC6A18	348932	broad.mit.edu	37	5	1242833	1242833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1242833G>T	ENST00000324642.3	+	8	1109	c.986G>T	c.(985-987)aGc>aTc	p.S329I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	329					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTCAGCCTCATCAAC	0.587																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(985-987)aGc>aTc		solute carrier family 6 (neutral amino acid transporter), member 18							181.0	144.0	156.0					5																	1242833		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1242833G>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.986G>T	5.37:g.1242833G>T	ENSP00000323549:p.Ser329Ile					SLC6A18_ENST00000296821.4_Intron	p.S329I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1109	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		329						Missense_Mutation	SNP	ENST00000324642.3	37	c.986G>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.306277	0.01353	.	.	ENSG00000164363	ENST00000324642	T	0.74842	-0.88	4.71	-2.25	0.06888	.	0.911571	0.09481	N	0.796400	T	0.44746	0.1308	N	0.10733	0.035	0.09310	N	1	B	0.25772	0.134	B	0.23018	0.043	T	0.21724	-1.0237	10	0.18276	T	0.48	.	1.7053	0.02881	0.1583:0.129:0.3165:0.3962	.	329	Q96N87	S6A18_HUMAN	I	329	ENSP00000323549:S329I	ENSP00000323549:S329I	S	+	2	0	SLC6A18	1295833	0.002000	0.14202	0.001000	0.08648	0.119000	0.20118	0.223000	0.17719	-0.985000	0.03503	-0.268000	0.10319	AGC		0.587	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		51	256	1	0	6.31075e-24	1	7.19376e-24	51	256				
RIPK3	11035	broad.mit.edu	37	14	24806143	24806143	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24806143C>A	ENST00000216274.5	-	9	1502	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	ADCY4_ENST00000418030.2_5'Flank|RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000396747.3_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	428	Pro-rich.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGCCTTGTCTCTCAGCCCCCT	0.557																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1282-1284)gaG>gaT		receptor-interacting serine-threonine kinase 3							114.0	107.0	109.0					14																	24806143		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24806143C>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1284G>T	14.37:g.24806143C>A	ENSP00000216274:p.Glu428Asp					RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D	p.E428D	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	9	1502	-			428					B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.1284G>T	CCDS9628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007385|2.007385	0.35415|0.35415	.|.	.|.	ENSG00000258973;ENSG00000129465|ENSG00000129465	ENST00000555591;ENST00000216274|ENST00000554569	T|.	0.44482|.	0.92|.	4.49|4.49	2.61|2.61	0.31194|0.31194	.|.	1.079420|.	0.07158|.	N|.	0.850264|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.20550|.	0.037;0.046|.	B;B|.	0.21917|.	0.027;0.037|.	T|T	0.19679|0.19679	-1.0298|-1.0298	10|5	0.02654|.	T|.	1|.	-1.3913|-1.3913	5.6008|5.6008	0.17353|0.17353	0.0:0.6885:0.2021:0.1094|0.0:0.6885:0.2021:0.1094	.|.	102;428|.	G3V2L1;Q9Y572|.	.;RIPK3_HUMAN|.	D|I	102;428|109	ENSP00000216274:E428D|.	ENSP00000216274:E428D|.	E|R	-|-	3|2	2|0	RIPK3;RP11-934B9.3|RIPK3	23875983|23875983	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.113000|0.113000	0.19764|0.19764	-0.998000|-0.998000	0.03701|0.03701	0.786000|0.786000	0.33708|0.33708	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.557	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		91	392	1	0	3.39216e-54	1	4.23318e-54	91	392				
PIK3C2B	5287	broad.mit.edu	37	1	204403006	204403006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204403006C>T	ENST00000367187.3	-	26	4314	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1253	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATCATGGAAGCGGCTGGAAGG	0.557																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3757-3759)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							129.0	114.0	119.0					1																	204403006		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204403006C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3758G>A	1.37:g.204403006C>T	ENSP00000356155:p.Arg1253His					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H|RP11-739N20.2_ENST00000443515.1_RNA	p.R1253H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		26	4314	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1253			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3758G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247408	0.95305	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.75704	-0.96;-0.96	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.065160	0.64402	D	0.000002	T	0.77585	0.4152	N	0.12961	0.28	0.58432	D	0.999992	P;D	0.89917	0.879;1.0	B;D	0.91635	0.334;0.999	T	0.77127	-0.2702	10	0.34782	T	0.22	.	19.8527	0.96746	0.0:1.0:0.0:0.0	.	1225;1253	F5GWN5;O00750	.;P3C2B_HUMAN	H	1253;31;1225	ENSP00000356155:R1253H;ENSP00000400561:R1225H	ENSP00000356155:R1253H	R	-	2	0	PIK3C2B	202669629	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.731000	0.84895	2.783000	0.95769	0.655000	0.94253	CGC		0.557	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		214	511	0	0	0	1	0	214	511				
ZNF280D	54816	broad.mit.edu	37	15	56958693	56958693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56958693C>T	ENST00000267807.7	-	16	2110	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ZNF280D_ENST00000559237.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000559000.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCTTTTATTTCGGAACAACAC	0.333																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1855-1857)Gaa>Aaa		zinc finger protein 280D							95.0	89.0	91.0					15																	56958693		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56958693C>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1894G>A	15.37:g.56958693C>T	ENSP00000267807:p.Glu632Lys					ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K|ZNF280D_ENST00000267807.7_Missense_Mutation_p.E632K|ZNF280D_ENST00000559000.1_Missense_Mutation_p.E619K	p.E619K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	15	2538	-			632					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1855G>A	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325527	0.24080	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03242	4.0;4.48	4.96	4.03	0.46877	.	0.898672	0.09068	U	0.853314	T	0.04952	0.0133	L	0.39085	1.19	0.32489	N	0.540437	B;B	0.28880	0.115;0.226	B;B	0.27380	0.025;0.079	T	0.24905	-1.0147	10	0.27785	T	0.31	-22.9372	14.0291	0.64604	0.1524:0.8476:0.0:0.0	.	695;632	B4DHL1;Q6N043	.;Z280D_HUMAN	K	632;619;336	ENSP00000267807:E632K;ENSP00000379545:E336K	ENSP00000267807:E632K	E	-	1	0	ZNF280D	54745985	0.999000	0.42202	0.962000	0.40283	0.991000	0.79684	4.260000	0.58835	1.193000	0.43086	0.467000	0.42956	GAA		0.333	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		85	358	0	0	0	1	0	85	358				
SLC1A6	6511	broad.mit.edu	37	19	15063833	15063833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063833G>A	ENST00000221742.3	-	8	1413	c.1406C>T	c.(1405-1407)cCc>cTc	p.P469L	SLC1A6_ENST00000430939.2_Missense_Mutation_p.P405L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.P391L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	469					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						ACCCGCCTGGGGGATGCCAGC	0.607																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1213-1215)cCc>cTc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						110.0	101.0	104.0					19																	15063833		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15063833G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1406C>T	19.37:g.15063833G>A	ENSP00000221742:p.Pro469Leu					SLC1A6_ENST00000600144.1_Missense_Mutation_p.P391L|SLC1A6_ENST00000221742.3_Missense_Mutation_p.P469L	p.P405L			P48664	EAA4_HUMAN			8	1343	-			469					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1214C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	-	25.8	4.678153	0.88542	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.76186	-1.0;-1.0	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.978;1.0	D	0.94009	0.7282	10	0.87932	D	0	-27.8098	14.8789	0.70516	0.0:0.0:1.0:0.0	.	405;469	E7EV13;P48664	.;EAA4_HUMAN	L	405;469	ENSP00000409386:P405L;ENSP00000221742:P469L	ENSP00000221742:P469L	P	-	2	0	SLC1A6	14924833	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.401000	0.97294	2.451000	0.82905	0.446000	0.29264	CCC		0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		116	578	0	0	0	1	0	116	578				
CUBN	8029	broad.mit.edu	37	10	16946075	16946075	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16946075G>T	ENST00000377833.4	-	51	8017	c.7952C>A	c.(7951-7953)cCt>cAt	p.P2651H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2651	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCTTTGAAGGACCACAAAG	0.403																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7951-7953)cCt>cAt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						95.0	89.0	91.0					10																	16946075		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16946075G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7952C>A	10.37:g.16946075G>T	ENSP00000367064:p.Pro2651His						p.P2651H	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			51	8017	-			2651			CUB 19.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7952C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320521	0.23994	.	.	ENSG00000107611	ENST00000377833	T	0.28255	1.62	5.39	3.39	0.38822	CUB (5);	0.858271	0.09772	N	0.757850	T	0.14442	0.0349	N	0.08118	0	0.24998	N	0.991489	B	0.02656	0.0	B	0.08055	0.003	T	0.23511	-1.0186	10	0.38643	T	0.18	.	2.7814	0.05362	0.1021:0.1053:0.382:0.4106	.	2651	O60494	CUBN_HUMAN	H	2651	ENSP00000367064:P2651H	ENSP00000367064:P2651H	P	-	2	0	CUBN	16986081	0.968000	0.33430	0.001000	0.08648	0.177000	0.22998	2.237000	0.43061	0.693000	0.31634	0.591000	0.81541	CCT		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		72	292	1	0	6.86016e-32	1	8.08805e-32	72	292				
GRK1	6011	broad.mit.edu	37	13	114321980	114321980	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114321980G>T	ENST00000335678.6	+	1	511	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	93	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGACATCGAGGACTATGACA	0.587																																						ENST00000335678.6																			0				ovary(2)	2						c.(277-279)gaG>gaT		G protein-coupled receptor kinase 1							51.0	56.0	55.0					13																	114321980		2039	4188	6227	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114321980G>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.279G>T	13.37:g.114321980G>T	ENSP00000334876:p.Glu93Asp						p.E93D	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		1	511	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	93			N-terminal.|RGS.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.279G>T		.	.	.	.	.	.	.	.	.	.	G	14.58	2.578195	0.45902	.	.	ENSG00000185974	ENST00000335678	T	0.02369	4.32	5.25	4.39	0.52855	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.44807	D	0.997813	D	0.76494	0.999	D	0.85130	0.997	T	0.32295	-0.9912	9	0.21014	T	0.42	-56.5093	8.6131	0.33815	0.1752:0.0:0.8248:0.0	.	93	Q15835	RK_HUMAN	D	93	ENSP00000334876:E93D	ENSP00000334876:E93D	E	+	3	2	GRK1	113369981	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	1.632000	0.37102	2.438000	0.82558	0.561000	0.74099	GAG		0.587	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		45	270	1	0	2.24722e-20	1	2.51766e-20	45	270				
ZMIZ2	83637	broad.mit.edu	37	7	44805040	44805040	+	Missense_Mutation	SNP	C	C	T	rs375252619		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44805040C>T	ENST00000309315.4	+	16	2227	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	702					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCACTGAAGCGCTGCCGCAC	0.677																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2104-2106)Cgc>Tgc		zinc finger, MIZ-type containing 2		C	CYS/ARG,CYS/ARG	0,4222		0,0,2111	28.0	31.0	30.0		2104,2026	4.2	1.0	7		30	1,8483		0,1,4241	no	missense,missense	ZMIZ2	NM_031449.3,NM_174929.2	180,180	0,1,6352	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	702/921,676/895	44805040	1,12705	2111	4242	6353	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805040C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2104C>T	7.37:g.44805040C>T	ENSP00000311778:p.Arg702Cys					ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C	p.R702C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2227	+			702					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2104C>T	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781630	0.90282	0.0	1.18E-4	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.38240	1.16;1.16;1.16;1.15;1.18	5.14	4.24	0.50183	.	0.000000	0.64402	D	0.000011	T	0.62648	0.2445	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.992	T	0.67007	-0.5779	10	0.56958	D	0.05	-16.8959	13.915	0.63893	0.0:0.9241:0.0:0.0759	.	676;702;644	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	C	644;702;702;670;676;705	ENSP00000409648:R644C;ENSP00000311778:R702C;ENSP00000414723:R702C;ENSP00000396601:R670C;ENSP00000265346:R676C	ENSP00000265346:R676C	R	+	1	0	ZMIZ2	44771565	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.577000	0.53885	2.686000	0.91538	0.561000	0.74099	CGC		0.677	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		40	153	0	0	0	1	0	40	153				
ZNF213	7760	broad.mit.edu	37	16	3191230	3191230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3191230G>A	ENST00000396878.3	+	6	1737	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H|ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	421					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCATCGGCGTGTGCACACC	0.657																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(1261-1263)cGt>cAt		zinc finger protein 213							41.0	42.0	41.0					16																	3191230		2196	4299	6495	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3191230G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1262G>A	16.37:g.3191230G>A	ENSP00000380087:p.Arg421His					ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H	p.R421H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			6	1737	+			421					A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.1262G>A	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083241	0.76642	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.25749	1.78;1.78	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000621	T	0.54159	0.1841	M	0.81112	2.525	0.37749	D	0.925892	D	0.89917	1.0	D	0.91635	0.999	T	0.64437	-0.6408	10	0.87932	D	0	.	15.9873	0.80168	0.0:0.0:1.0:0.0	.	421	O14771	ZN213_HUMAN	H	421;263	ENSP00000380087:R421H;ENSP00000403892:R263H	ENSP00000380087:R421H	R	+	2	0	ZNF213	3131231	0.004000	0.15560	0.958000	0.39756	0.981000	0.71138	1.334000	0.33827	2.365000	0.80145	0.462000	0.41574	CGT		0.657	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		83	308	0	0	0	1	0	83	308				
NTRK3	4916	broad.mit.edu	37	15	88522688	88522688	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88522688C>A	ENST00000360948.2	-	14	1747				NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R576I|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000317501.3_Missense_Mutation_p.R576I	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATAATTTCTCTGAAACCTAT	0.343			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000317501.3				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1726-1728)aGa>aTa		neurotrophic tyrosine kinase, receptor, type 3							75.0	76.0	76.0					15																	88522688		2201	4299	6500	SO:0001627	intron_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88522688C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-38704G>T	15.37:g.88522688C>A		TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R576I|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000558306.1_5'UTR	p.R576I	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		15	1888	-			0			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1727G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960531	0.74016	.	.	ENSG00000140538	ENST00000540489;ENST00000317501;ENST00000537300	T;T	0.73469	-0.75;-0.75	5.15	5.15	0.70609	.	.	.	.	.	T	0.64238	0.2580	N	0.08118	0	0.43714	D	0.996185	D	0.61080	0.989	P	0.47573	0.55	T	0.73665	-0.3911	9	0.87932	D	0	.	17.6353	0.88120	0.0:1.0:0.0:0.0	.	576	Q96CY4	.	I	576;576;11	ENSP00000444673:R576I;ENSP00000318328:R576I	ENSP00000318328:R576I	R	-	2	0	NTRK3	86323692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.330000	0.52068	2.400000	0.81607	0.655000	0.94253	AGA		0.343	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				67	337	1	0	1.63498e-16	1	1.79634e-16	67	337				
ZNF534	147658	broad.mit.edu	37	19	52941324	52941324	+	Missense_Mutation	SNP	G	G	A	rs151189562	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52941324G>A	ENST00000332323.6	+	4	711	c.650G>A	c.(649-651)cGt>cAt	p.R217H	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CTTACTAACCGTCAAGTAATC	0.388													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20301	0.0		0.0	False		,,,				2504	0.0					ENST00000332323.6																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(649-651)cGt>cAt		zinc finger protein 534		G	HIS/ARG,HIS/ARG	2,3134		0,2,1566	102.0	90.0	94.0		611,650	0.5	0.0	19	dbSNP_134	94	0,7164		0,0,3582	no	missense,missense	ZNF534	NM_001143938.1,NM_001143939.1	29,29	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,benign	204/662,217/675	52941324	2,10298	1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941324G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.650G>A	19.37:g.52941324G>A	ENSP00000327538:p.Arg217His					ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	p.R217H	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	711	+			217					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.650G>A	CCDS46165.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.005	-2.209788	0.00292	6.38E-4	0.0	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.04551	3.6;3.6	1.63	0.516	0.17019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00552	0.0018	N	0.00005	-3.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45977	-0.9224	9	0.02654	T	1	.	3.1434	0.06463	0.5952:0.2428:0.162:0.0	.	204;217	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	217;204;216	ENSP00000327538:R217H;ENSP00000391358:R204H	ENSP00000327538:R217H	R	+	2	0	ZNF534	57633136	0.249000	0.23941	0.001000	0.08648	0.001000	0.01503	1.750000	0.38329	-0.089000	0.12484	-0.606000	0.04082	CGT		0.388	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		69	236	0	0	0	1	0	69	236				
FREM1	158326	broad.mit.edu	37	9	14819312	14819312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14819312G>A	ENST00000380880.3	-	14	3249	c.2466C>T	c.(2464-2466)caC>caT	p.H822H	FREM1_ENST00000422223.2_Silent_p.H822H|FREM1_ENST00000380881.4_Silent_p.H823H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	822					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCACCCTTCCGTGCAGAGGCA	0.458																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2467-2469)caC>caT		FRAS1 related extracellular matrix 1							105.0	102.0	103.0					9																	14819312		1926	4131	6057	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14819312G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2466C>T	9.37:g.14819312G>A						FREM1_ENST00000380880.3_Silent_p.H822H|FREM1_ENST00000422223.2_Silent_p.H822H	p.H823H			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	15	3284	-			822					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.2469C>T	CCDS47952.1																																																																																				0.458	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		48	180	0	0	0	1	0	48	180				
DBF4B	80174	broad.mit.edu	37	17	42824842	42824842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42824842C>T	ENST00000315005.3	+	12	1161	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	DBF4B_ENST00000393547.2_Silent_p.S341S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	341					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTCAGCTCAGCCACAGCTTTG	0.602																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1021-1023)agC>agT		DBF4 homolog B (S. cerevisiae)							75.0	60.0	65.0					17																	42824842		2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42824842C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1023C>T	17.37:g.42824842C>T						DBF4B_ENST00000393547.2_Silent_p.S341S	p.S341S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			12	1161	+		Prostate(33;0.0322)	341					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1023C>T	CCDS11485.1																																																																																				0.602	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		56	211	0	0	0	1	0	56	211				
SMC2	10592	broad.mit.edu	37	9	106875687	106875687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106875687G>T	ENST00000286398.7	+	11	1633	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	449					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAGGATCAAGAAGCTCTAGA	0.353																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1345-1347)Gaa>Taa		structural maintenance of chromosomes 2							69.0	71.0	71.0					9																	106875687		2203	4299	6502	SO:0001587	stop_gained	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106875687G>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1345G>T	9.37:g.106875687G>T	ENSP00000286398:p.Glu449*					SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*	p.E449*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			11	1633	+			449					Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	ENST00000286398.7	37	c.1345G>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	40	8.432230	0.98808	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	4.86	3.96	0.45880	.	0.276742	0.42682	D	0.000671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8318	9.247	0.37532	0.1751:0.0:0.8249:0.0	.	.	.	.	X	449	.	ENSP00000286398:E449X	E	+	1	0	SMC2	105915508	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.341000	0.79300	1.265000	0.44215	0.650000	0.86243	GAA		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			47	259	1	0	7.88023e-25	1	9.02574e-25	47	259				
MSLN	10232	broad.mit.edu	37	16	814919	814919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:814919C>T	ENST00000382862.3	+	7	488	c.393C>T	c.(391-393)ttC>ttT	p.F131F	MSLN_ENST00000566549.1_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F|MSLN_ENST00000545450.2_Silent_p.F131F	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	131					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGATGCGTTCTCGGGGCCCC	0.687																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(391-393)ttC>ttT		mesothelin							23.0	24.0	23.0					16																	814919		2177	4287	6464	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814919C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.393C>T	16.37:g.814919C>T						MSLN_ENST00000545450.2_Silent_p.F131F|MSLN_ENST00000382862.3_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F	p.F131F			Q13421	MSLN_HUMAN			7	810	+		Hepatocellular(780;0.00335)	131					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.393C>T	CCDS32356.1																																																																																				0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			32	108	0	0	0	1	0	32	108				
POC1A	25886	broad.mit.edu	37	3	52181054	52181054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52181054C>T	ENST00000296484.2	-	5	552	c.513G>A	c.(511-513)ctG>ctA	p.L171L	POC1A_ENST00000394970.2_Silent_p.L171L|POC1A_ENST00000474012.1_Silent_p.L133L	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	171			L -> P (in SOFT). {ECO:0000269|PubMed:22840363}.		cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCTTGTCCCACAGCTTAACAG	0.582																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(511-513)ctG>ctA		POC1 centriolar protein A							109.0	99.0	102.0					3																	52181054		2203	4300	6503	SO:0001819	synonymous_variant	25886					centriole|microtubule basal body		g.chr3:52181054C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.513G>A	3.37:g.52181054C>T						POC1A_ENST00000296484.2_Silent_p.L171L|POC1A_ENST00000474012.1_Silent_p.L133L	p.L171L	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			5	830	-			171					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Silent	SNP	ENST00000296484.2	37	c.513G>A	CCDS2846.1																																																																																				0.582	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		61	332	0	0	0	1	0	61	332				
PIPSL	266971	broad.mit.edu	37	10	95720147	95720147	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720147C>T	ENST00000480546.1	-	0	1150					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TTTACTATTCCGGGCAGGGAT	0.502																																						ENST00000480546.1																			0																																																			0							g.chr10:95720147C>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720147C>T								NR_002319.2						0	1150	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.502	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		74	347	0	0	0	1	0	74	347				
U2AF2	11338	broad.mit.edu	37	19	56172411	56172411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56172411T>C	ENST00000308924.4	+	5	382	c.342T>C	c.(340-342)ggT>ggC	p.G114G	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000450554.2_Silent_p.G114G			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	114					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AAGCTGCGGGTCAGATTCCAG	0.597																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(340-342)ggT>ggC		U2 small nuclear RNA auxiliary factor 2							68.0	67.0	68.0					19																	56172411		2203	4300	6503	SO:0001819	synonymous_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56172411T>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.342T>C	19.37:g.56172411T>C						U2AF2_ENST00000308924.4_Silent_p.G114G	p.G114G	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	5	1301	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	114					Q96HC5	Silent	SNP	ENST00000308924.4	37	c.342T>C	CCDS12933.1																																																																																				0.597	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		12	336	0	0	0	1	0	12	336				
ZNF462	58499	broad.mit.edu	37	9	109734376	109734376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109734376C>A	ENST00000277225.5	+	8	6807	c.6518C>A	c.(6517-6519)cCt>cAt	p.P2173H	ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2173					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGTGTTAGCCCTGTGCCTCTT	0.532																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6517-6519)cCt>cAt		zinc finger protein 462							83.0	84.0	84.0					9																	109734376		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109734376C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6518C>A	9.37:g.109734376C>A	ENSP00000277225:p.Pro2173His					ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H	p.P2173H			Q96JM2	ZN462_HUMAN			8	6807	+			2173					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6518C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628355	0.87560	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.16073	3.35;3.85;3.94;3.94;2.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.00482	-1.1713	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2233;74;2173	Q96JM2-3;Q5T0T2;Q96JM2	.;.;ZN462_HUMAN	H	2173;2233;1116;1079;130	ENSP00000277225:P2173H;ENSP00000414570:P2233H;ENSP00000363818:P1116H;ENSP00000397306:P1079H;ENSP00000439771:P130H	ENSP00000277225:P2173H	P	+	2	0	ZNF462	108774197	0.992000	0.36948	0.995000	0.50966	0.996000	0.88848	2.991000	0.49409	2.941000	0.99782	0.655000	0.94253	CCT		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		27	292	1	0	7.41945e-09	1	7.77385e-09	27	292				
ZNRF4	148066	broad.mit.edu	37	19	5456539	5456539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5456539G>A	ENST00000222033.4	+	1	1114	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	346						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCCCCCCGGCGCTCCTGCCCC	0.622																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1036-1038)cGc>cAc		zinc and ring finger 4							88.0	101.0	97.0					19																	5456539		2017	4158	6175	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456539G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1037G>A	19.37:g.5456539G>A	ENSP00000222033:p.Arg346His						p.R346H	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1114	+			346					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.1037G>A	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497890	0.26861	.	.	ENSG00000105428	ENST00000222033	T	0.44482	0.92	4.47	2.17	0.27698	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.131872	0.46442	U	0.000287	T	0.24122	0.0584	N	0.25890	0.77	0.09310	N	1	B	0.28400	0.21	B	0.26614	0.071	T	0.14282	-1.0478	10	0.59425	D	0.04	-18.9158	3.2793	0.06909	0.2195:0.0:0.5723:0.2082	.	346	Q8WWF5	ZNRF4_HUMAN	H	346	ENSP00000222033:R346H	ENSP00000222033:R346H	R	+	2	0	ZNRF4	5407539	0.142000	0.22610	0.128000	0.21923	0.725000	0.41563	1.135000	0.31454	0.871000	0.35750	0.561000	0.74099	CGC		0.622	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		20	631	0	0	0	1	0	20	631				
FRYL	285527	broad.mit.edu	37	4	48503735	48503735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48503735G>A	ENST00000503238.1	-	59	8496	c.8497C>T	c.(8497-8499)Cga>Tga	p.R2833*	FRYL_ENST00000358350.4_Nonsense_Mutation_p.R2833*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*			O94915	FRYL_HUMAN	FRY-like	2833					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATAATCTTCGGCAGAGCTCC	0.303																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8497-8499)Cga>Tga		FRY-like							142.0	136.0	138.0					4																	48503735		1803	4078	5881	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503735G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8497C>T	4.37:g.48503735G>A	ENSP00000426064:p.Arg2833*					FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*	p.R2833*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			62	9101	-			2833					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.8497C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	53	20.455387	0.99931	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.45	4.53	0.55603	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8329	0.70162	0.0:0.0:0.8146:0.1854	.	.	.	.	X	2833;2833;2833;223;223	.	ENSP00000264319:R223X	R	-	1	2	FRYL	48198492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.270000	0.78493	1.216000	0.43427	0.484000	0.47621	CGA		0.303	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			101	464	0	0	0	1	0	101	464				
UTP20	27340	broad.mit.edu	37	12	101731892	101731892	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101731892T>G	ENST00000261637.4	+	30	3879	c.3705T>G	c.(3703-3705)gtT>gtG	p.V1235V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1235					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGACCAATGTTTTTGCAATTC	0.408																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3703-3705)gtT>gtG		UTP20, small subunit (SSU) processome component, homolog (yeast)							135.0	135.0	135.0					12																	101731892		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101731892T>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3705T>G	12.37:g.101731892T>G							p.V1235V	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			30	3879	+			1235					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.3705T>G	CCDS9081.1																																																																																				0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		10	435	0	0	0	1	0	10	435				
ABI3BP	25890	broad.mit.edu	37	3	100565266	100565266	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100565266G>T	ENST00000284322.5	-	18	1656	c.1547C>A	c.(1546-1548)tCt>tAt	p.S516Y	ABI3BP_ENST00000471714.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000383691.4_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	516	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGTTTCAGAGAAATAAATTG	0.333																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1693-1695)tCt>tAt		ABI family, member 3 (NESH) binding protein							58.0	55.0	56.0					3																	100565266		1799	4064	5863	SO:0001583	missense	25890					extracellular space		g.chr3:100565266G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1547C>A	3.37:g.100565266G>T	ENSP00000284322:p.Ser516Tyr					ABI3BP_ENST00000284322.5_Missense_Mutation_p.S516Y|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000383691.4_5'UTR	p.S565Y			Q7Z7G0	TARSH_HUMAN			20	1803	-			516			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1694C>A	CCDS46880.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.82|14.82|14.82	2.650312|2.650312|2.650312	0.47362|0.47362|0.47362	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000466947|ENST00000495591;ENST00000528490;ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|.|T;T;T	.|.|0.59224	.|.|0.28;0.28;0.28	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|.|.	.|.|0.864209	.|.|0.10324	.|.|N	.|.|0.688353	T|T|T	0.60314|0.60314|0.60314	0.2259|0.2259|0.2259	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P	.|.|0.58620	.|.|0.983;0.94	.|.|P;P	.|.|0.58873	.|.|0.847;0.548	T|T|T	0.49143|0.49143|0.49143	-0.8970|-0.8970|-0.8970	5|5|10	.|.|0.02654	.|.|T	.|.|1	-0.434|-0.434|-0.434	12.4487|12.4487|12.4487	0.55666|0.55666|0.55666	0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0	.|.|.	.|.|565;516	.|.|Q5JPC9;Q7Z7G0	.|.|.;TARSH_HUMAN	L|I|Y	3|3;33;194|565;516;565	.|.|ENSP00000420524:S565Y;ENSP00000284322:S516Y;ENSP00000433993:S565Y	.|.|ENSP00000284322:S516Y	F|L|S	-|-|-	3|1|2	2|0|0	ABI3BP|ABI3BP|ABI3BP	102047956|102047956|102047956	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.925000|0.925000|0.925000	0.55904|0.55904|0.55904	3.106000|3.106000|3.106000	0.50322|0.50322|0.50322	2.787000|2.787000|2.787000	0.95880|0.95880|0.95880	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	TTC|CTC|TCT		0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			4	34	1	0	0.217242	1	0.217458	4	34				
AMPD3	272	broad.mit.edu	37	11	10506432	10506432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10506432G>A	ENST00000396554.3	+	5	1023	c.682G>A	c.(682-684)Gat>Aat	p.D228N	AMPD3_ENST00000444303.2_Missense_Mutation_p.D60N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	219					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCCCAACCTGGATTACTTGGT	0.577																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(178-180)Gat>Aat		adenosine monophosphate deaminase 3							108.0	90.0	96.0					11																	10506432		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10506432G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.682G>A	11.37:g.10506432G>A	ENSP00000379802:p.Asp228Asn					AMPD3_ENST00000396554.3_Missense_Mutation_p.D228N	p.D60N	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	4	650	+			219					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.178G>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247013	0.39697	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.68	5.68	0.88126	.	0.324654	0.40554	N	0.001072	T	0.60676	0.2287	N	0.01817	-0.705	0.34621	D	0.718609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.62501	-0.6841	10	0.08381	T	0.77	-6.4747	15.2918	0.73870	0.0:0.1395:0.8605:0.0	.	226;219;228	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	N	60;228;219;219;226;219	ENSP00000396000:D60N;ENSP00000379802:D228N;ENSP00000433284:D219N;ENSP00000379801:D219N;ENSP00000436987:D226N;ENSP00000431648:D219N	ENSP00000379801:D219N	D	+	1	0	AMPD3	10463008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.853000	0.55941	2.692000	0.91855	0.561000	0.74099	GAT		0.577	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		83	444	0	0	0	1	0	83	444				
LINC00471	151477	broad.mit.edu	37	2	232373827	232373827	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232373827G>T	ENST00000313064.2	-	0	591					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		CTAACTCACAGCCACTCATCG	0.502																																						ENST00000313064.2																			0																				156.0	148.0	151.0					2																	232373827		2203	4300	6503			0							g.chr2:232373827G>T	BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232373827G>T								NR_024079.1						0	591	-									RNA	SNP	ENST00000313064.2	37																																																																																						0.502	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2	NM_173513		147	662	1	0	1.5335e-61	1	1.93102e-61	147	662				
PTF1A	256297	broad.mit.edu	37	10	23481479	23481479	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23481479A>T	ENST00000376504.3	+	1	224	c.20A>T	c.(19-21)gAg>gTg	p.E7V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	7					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GTGTTGCTGGAGCACTTCCCC	0.647																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(19-21)gAg>gTg		pancreas specific transcription factor, 1a							50.0	48.0	49.0					10																	23481479		2203	4300	6503	SO:0001583	missense	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23481479A>T	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.20A>T	10.37:g.23481479A>T	ENSP00000365687:p.Glu7Val						p.E7V	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			1	224	+			7					Q9HC25	Missense_Mutation	SNP	ENST00000376504.3	37	c.20A>T	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887566	0.72410	.	.	ENSG00000168267	ENST00000376504	D	0.96073	-3.9	2.96	2.96	0.34315	.	0.140467	0.46442	U	0.000299	D	0.93245	0.7848	L	0.27053	0.805	0.40935	D	0.984423	D	0.64830	0.994	P	0.53266	0.722	D	0.93282	0.6661	10	0.87932	D	0	-12.742	10.8941	0.47012	1.0:0.0:0.0:0.0	.	7	Q7RTS3	PTF1A_HUMAN	V	7	ENSP00000365687:E7V	ENSP00000365687:E7V	E	+	2	0	PTF1A	23521485	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	8.002000	0.88514	1.222000	0.43521	0.260000	0.18958	GAG		0.647	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161		51	307	0	0	0	1	0	51	307				
TRERF1	55809	broad.mit.edu	37	6	42196272	42196272	+	Silent	SNP	G	G	A	rs150908395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196272G>A	ENST00000372922.4	-	18	3976	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	TRERF1_ENST00000541110.1_Silent_p.P1158P|TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000354325.2_Silent_p.P1055P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1138	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCCCCCACGGGCCCCGTAG	0.602																																						ENST00000541110.1																			1	Substitution - coding silent(1)	p.P1138P(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3472-3474)ccC>ccT		transcriptional regulating factor 1		G		0,4406		0,0,2203	141.0	165.0	157.0		3414	-8.8	0.2	6	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRERF1	NM_033502.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1138/1201	42196272	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196272G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3414C>T	6.37:g.42196272G>A						TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000372922.4_Silent_p.P1138P|TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000340840.2_Silent_p.P1067P	p.P1158P			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4042	-	Colorectal(47;0.196)		1138			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.3474C>T	CCDS4867.1																																																																																				0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		57	1884	0	0	0	1	0	57	1884				
ZNF786	136051	broad.mit.edu	37	7	148768238	148768238	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768238G>A	ENST00000491431.1	-	4	1690	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	ZNF786_ENST00000316286.9_Silent_p.C456C|ZNF786_ENST00000451334.3_Silent_p.C505C	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCGCTTGTCGCACTTCAGGC	0.632																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1366-1368)tgC>tgT		zinc finger protein 786							24.0	27.0	26.0					7																	148768238		2148	4258	6406	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768238G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1626C>T	7.37:g.148768238G>A						ZNF786_ENST00000451334.3_Silent_p.C505C|ZNF786_ENST00000491431.1_Silent_p.C542C	p.C456C			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1640	-	Melanoma(164;0.15)		542					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1368C>T	CCDS47738.1																																																																																				0.632	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		24	120	0	0	0	1	0	24	120				
CWC27	10283	broad.mit.edu	37	5	64081400	64081400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64081400C>T	ENST00000381070.3	+	5	706	c.489C>T	c.(487-489)agC>agT	p.S163S	CWC27_ENST00000508024.1_Silent_p.S163S	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	163	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAATAAAAAGCTGTGAGGTAG	0.343																																						ENST00000508024.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(487-489)agC>agT		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							130.0	120.0	123.0					5																	64081400		2203	4300	6503	SO:0001819	synonymous_variant	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64081400C>T	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.489C>T	5.37:g.64081400C>T						CWC27_ENST00000381070.3_Silent_p.S163S	p.S163S			Q6UX04	CWC27_HUMAN			5	690	+			163			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	37	c.489C>T	CCDS3982.2																																																																																				0.343	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		80	340	0	0	0	1	0	80	340				
TCF25	22980	broad.mit.edu	37	16	89977587	89977587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977587C>T	ENST00000263346.8	+	18	2028	c.1972C>T	c.(1972-1974)Ctc>Ttc	p.L658F	RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank|TCF25_ENST00000263347.7_Missense_Mutation_p.P462L	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	658					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAACTTCCACCTCAACGACCT	0.647																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(1972-1974)Ctc>Ttc		transcription factor 25 (basic helix-loop-helix)							57.0	54.0	55.0					16																	89977587		2194	4297	6491	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89977587C>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1972C>T	16.37:g.89977587C>T	ENSP00000263346:p.Leu658Phe					TCF25_ENST00000263347.7_Missense_Mutation_p.P462L|RP11-566K11.7_ENST00000570217.1_RNA	p.L658F	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	18	2028	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	658					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1972C>T	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.472323|3.472323	0.63737|0.63737	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263346|ENST00000263347	.|.	.|.	.|.	5.21|5.21	4.12|4.12	0.48240|0.48240	.|.	0.117444|.	0.64402|.	N|.	0.000008|.	T|T	0.16727|0.16727	0.0402|0.0402	N|N	0.01188|0.01188	-0.97|-0.97	0.32697|0.32697	N|N	0.513374|0.513374	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.08513|0.08513	-1.0718|-1.0718	9|8	0.02654|0.87932	T|D	1|0	.|.	7.251|7.251	0.26150|0.26150	0.0:0.1071:0.0:0.8929|0.0:0.1071:0.0:0.8929	.|.	658|462	Q9BQ70|Q9H384	TCF25_HUMAN|.	F|L	658|462	.|.	ENSP00000263346:L658F|ENSP00000263347:P462L	L|P	+|+	1|2	0|0	TCF25|TCF25	88505088|88505088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.827000|4.827000	0.62723|0.62723	0.843000|0.843000	0.35070|0.35070	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.647	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		67	435	0	0	0	1	0	67	435				
CACHD1	57685	broad.mit.edu	37	1	65137258	65137258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65137258C>A	ENST00000371073.2	+	17	2399	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S749Y			Q5VU97	CAHD1_HUMAN	cache domain containing 1	800	Cache 2.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACACAGCTGTCTTCTGGGCAC	0.413																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2398-2400)tCt>tAt		cache domain containing 1							213.0	187.0	196.0					1																	65137258		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65137258C>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2399C>A	1.37:g.65137258C>A	ENSP00000360113:p.Ser800Tyr					CACHD1_ENST00000290039.5_Missense_Mutation_p.S749Y|CACHD1_ENST00000495994.1_3'UTR	p.S800Y			Q5VU97	CAHD1_HUMAN			17	2399	+			800			Cache 2.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2399C>A		.	.	.	.	.	.	.	.	.	.	C	15.15	2.749343	0.49257	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26957	1.7;1.71	6.08	5.17	0.71159	Cache (1);	0.045645	0.85682	D	0.000000	T	0.19805	0.0476	L	0.53249	1.67	0.58432	D	0.999993	B	0.23990	0.095	B	0.34722	0.188	T	0.06552	-1.0820	10	0.72032	D	0.01	-20.5468	15.3777	0.74625	0.0:0.9336:0.0:0.0664	.	800	Q5VU97	CAHD1_HUMAN	Y	800;749	ENSP00000360113:S800Y;ENSP00000290039:S749Y	ENSP00000290039:S749Y	S	+	2	0	CACHD1	64909846	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.146000	0.77373	1.595000	0.50050	-0.136000	0.14681	TCT		0.413	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		75	642	1	0	3.12118e-38	1	3.75939e-38	75	642				
CLDN9	9080	broad.mit.edu	37	16	3063599	3063599	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3063599C>T	ENST00000445369.2	+	1	1143	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	79					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GACCTGCAGGCCGCACGTGCC	0.647																																						ENST00000445369.2																			0				endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(235-237)gCc>gTc		claudin 9							100.0	79.0	86.0					16																	3063599		2198	4300	6498	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063599C>T	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.236C>T	16.37:g.3063599C>T	ENSP00000398017:p.Ala79Val						p.A79V	NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN			1	1143	+			79						Missense_Mutation	SNP	ENST00000445369.2	37	c.236C>T	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941470	0.53079	.	.	ENSG00000213937	ENST00000445369	D	0.91996	-2.95	4.72	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	M	0.75085	2.285	0.80722	D	1	P	0.50066	0.931	P	0.52758	0.708	D	0.93375	0.6738	10	0.66056	D	0.02	.	11.8215	0.52240	0.1766:0.8234:0.0:0.0	.	79	O95484	CLD9_HUMAN	V	79	ENSP00000398017:A79V	ENSP00000398017:A79V	A	+	2	0	CLDN9	3003600	1.000000	0.71417	0.828000	0.32881	0.394000	0.30568	5.929000	0.70096	1.144000	0.42321	0.467000	0.42956	GCC		0.647	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		97	323	0	0	0	1	0	97	323				
INO80	54617	broad.mit.edu	37	15	41313242	41313242	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41313242G>T	ENST00000361937.3	-	26	3554	c.3130C>A	c.(3130-3132)Ctg>Atg	p.L1044M	INO80_ENST00000401393.3_Missense_Mutation_p.L1044M|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1044	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGCTGCCAGACTCCCTCCT	0.507																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3130-3132)Ctg>Atg		INO80 complex subunit							94.0	85.0	88.0					15																	41313242		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41313242G>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3130C>A	15.37:g.41313242G>T	ENSP00000355205:p.Leu1044Met					INO80_ENST00000401393.3_Missense_Mutation_p.L1044M|RP11-540O11.4_ENST00000558967.1_RNA	p.L1044M			Q9ULG1	INO80_HUMAN			26	3554	-			1044			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3130C>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744557	0.49151	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.14	4.23	0.50019	.	0.427308	0.24260	N	0.040091	D	0.83811	0.5335	N	0.24115	0.695	0.35107	D	0.765768	P	0.46277	0.875	B	0.41571	0.36	D	0.85873	0.1417	10	0.28530	T	0.3	.	13.7206	0.62725	0.074:0.0:0.926:0.0	.	1044	Q9ULG1	INO80_HUMAN	M	1044	ENSP00000355205:L1044M;ENSP00000384686:L1044M	ENSP00000355205:L1044M	L	-	1	2	INO80	39100534	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.784000	0.38674	1.397000	0.46682	-0.136000	0.14681	CTG		0.507	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		15	331	1	0	2.5808e-16	1	2.83451e-16	15	331				
MYO10	4651	broad.mit.edu	37	5	16673839	16673839	+	Silent	SNP	G	G	A	rs374259243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16673839G>A	ENST00000513610.1	-	36	5578	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000274203.9_Silent_p.G1065G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000505695.1_Silent_p.G1047G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1708	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGAGCCGCCGCCATGGCAAT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		16999	0.001		0.0	False		,,,				2504	0.0					ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5122-5124)ggC>ggT		myosin X		G		1,3993		0,1,1996	75.0	78.0	77.0		5124	-8.7	0.1	5		77	0,8336		0,0,4168	no	coding-synonymous	MYO10	NM_012334.2		0,1,6164	AA,AG,GG		0.0,0.025,0.0081		1708/2059	16673839	1,12329	1997	4168	6165	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16673839G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5124C>T	5.37:g.16673839G>A						MYO10_ENST00000505695.1_Silent_p.G1047G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000274203.9_Silent_p.G1065G	p.G1708G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			36	5578	-			1708			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.5124C>T	CCDS54834.1																																																																																				0.527	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		36	171	0	0	0	1	0	36	171				
LIFR	3977	broad.mit.edu	37	5	38530694	38530694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38530694C>T	ENST00000263409.4	-	2	218	c.56G>A	c.(55-57)aGa>aAa	p.R19K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R19K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	19					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGTCCTCATTCTTTTATTGTC	0.388			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(55-57)aGa>aAa		leukemia inhibitory factor receptor alpha							135.0	131.0	133.0					5																	38530694		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38530694C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.56G>A	5.37:g.38530694C>T	ENSP00000263409:p.Arg19Lys					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R19K	p.R19K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			2	218	-	all_lung(31;0.00021)		19					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.56G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283089	0.59867	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990;ENST00000511561	T;T;T	0.55588	0.51;0.51;0.81	5.5	1.59	0.23543	.	0.827850	0.10502	N	0.667197	T	0.43366	0.1244	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45011	-0.9290	10	0.59425	D	0.04	-12.1776	1.854	0.03174	0.1684:0.4932:0.1629:0.1755	.	19	P42702	LIFR_HUMAN	K	19	ENSP00000263409:R19K;ENSP00000398368:R19K;ENSP00000426685:R19K	ENSP00000263409:R19K	R	-	2	0	LIFR	38566451	0.004000	0.15560	0.001000	0.08648	0.900000	0.52787	0.721000	0.25911	0.337000	0.23665	0.650000	0.86243	AGA		0.388	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		35	425	0	0	0	1	0	35	425				
TMCO1	54499	broad.mit.edu	37	1	165737482	165737482	+	Missense_Mutation	SNP	C	C	A	rs368923697		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165737482C>A	ENST00000392129.6	-	2	245	c.95G>T	c.(94-96)aGg>aTg	p.R32M	TMCO1_ENST00000464650.1_De_novo_Start_InFrame|TMCO1_ENST00000367881.5_Missense_Mutation_p.R83M|RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000580248.1_De_novo_Start_InFrame	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	32						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTGTCTGTCCTGTAAACCAG	0.373																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(247-249)aGg>aTg		transmembrane and coiled-coil domains 1							160.0	143.0	149.0					1																	165737482		2203	4300	6503	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165737482C>A	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.95G>T	1.37:g.165737482C>A	ENSP00000375975:p.Arg32Met					TMCO1_ENST00000464650.1_De_novo_Start_InFrame|TMCO1_ENST00000580248.1_De_novo_Start_InFrame|TMCO1_ENST00000392129.6_Missense_Mutation_p.R32M	p.R83M			Q9UM00	TMCO1_HUMAN			2	523	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		32					B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.248G>T		.	.	.	.	.	.	.	.	.	.	C	29.4	4.998946	0.93227	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.68	5.68	0.88126	.	0.045571	0.85682	D	0.000000	D	0.84479	0.5481	M	0.92507	3.315	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.87671	0.2541	8	0.87932	D	0	.	17.2927	0.87162	0.0:1.0:0.0:0.0	.	20;32	B7Z591;Q9UM00	.;TMCO1_HUMAN	M	32	.	ENSP00000356856:R32M	R	-	2	0	TMCO1	164004106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.314000	0.72848	2.683000	0.91414	0.561000	0.74099	AGG		0.373	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		24	307	1	0	5.45024e-15	1	5.94044e-15	24	307				
TRIM2	23321	broad.mit.edu	37	4	154216729	154216729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216729G>A	ENST00000437508.2	+	6	1171	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TRIM2_ENST00000338700.5_Missense_Mutation_p.V351I|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	324					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACCAACGCCGTTGCCTCAGA	0.607																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1051-1053)Gtt>Att		tripartite motif containing 2							58.0	52.0	54.0					4																	154216729		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216729G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.970G>A	4.37:g.154216729G>A	ENSP00000415812:p.Val324Ile					TRIM2_ENST00000437508.2_Missense_Mutation_p.V324I|TRIM2_ENST00000494872.1_3'UTR	p.V351I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1116	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	324					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1051G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821247	0.32237	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84944	-1.92;-1.92	5.53	4.68	0.58851	.	0.101717	0.64402	D	0.000002	T	0.78349	0.4269	L	0.46885	1.475	0.53688	D	0.999973	P;P	0.42973	0.796;0.646	B;B	0.32090	0.14;0.071	T	0.77800	-0.2452	10	0.33141	T	0.24	-1.7556	15.9934	0.80223	0.0:0.0:0.8641:0.1359	.	351;324	D3DP09;Q9C040	.;TRIM2_HUMAN	I	324;351	ENSP00000415812:V324I;ENSP00000339659:V351I	ENSP00000339659:V351I	V	+	1	0	TRIM2	154436179	1.000000	0.71417	0.860000	0.33809	0.842000	0.47809	7.505000	0.81655	1.443000	0.47586	0.561000	0.74099	GTT		0.607	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			57	183	0	0	0	1	0	57	183				
WISP2	8839	broad.mit.edu	37	20	43353497	43353497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43353497G>A	ENST00000372868.2	+	4	739	c.396G>A	c.(394-396)ccG>ccA	p.P132P	WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Silent_p.P132P|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	132	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCTGCGTGCCGCTGTGCAGCG	0.697																																						ENST00000372868.2																			0				skin(1)	1						c.(394-396)ccG>ccA		WNT1 inducible signaling pathway protein 2							24.0	19.0	21.0					20																	43353497		2198	4295	6493	SO:0001819	synonymous_variant	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43353497G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.396G>A	20.37:g.43353497G>A						WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Silent_p.P132P|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA	p.P132P			O76076	WISP2_HUMAN			4	739	+		Myeloproliferative disorder(115;0.0122)	132			VWFC.		B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	c.396G>A	CCDS13336.1																																																																																				0.697	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		19	61	0	0	0	1	0	19	61				
KIF26B	55083	broad.mit.edu	37	1	245530451	245530451	+	Missense_Mutation	SNP	G	G	A	rs538698748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530451G>A	ENST00000407071.2	+	3	1221	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	261					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACAGGCTTCGCCAACAAGCA	0.662																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(781-783)Gcc>Acc		kinesin family member 26B																																				SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530451G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.781G>A	1.37:g.245530451G>A	ENSP00000385545:p.Ala261Thr					KIF26B_ENST00000479506.1_3'UTR	p.A261T	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1221	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		261					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.781G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647193	0.29246	.	.	ENSG00000162849	ENST00000407071	T	0.77229	-1.08	5.57	2.53	0.30540	.	0.464285	0.18794	N	0.131000	T	0.63651	0.2529	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.25105	0.118;0.103	B;B	0.14578	0.011;0.01	T	0.54009	-0.8357	10	0.37606	T	0.19	.	9.0255	0.36227	0.1336:0.2209:0.6455:0.0	.	261;261	B4DF75;Q2KJY2	.;KI26B_HUMAN	T	261	ENSP00000385545:A261T	ENSP00000385545:A261T	A	+	1	0	KIF26B	243597074	0.000000	0.05858	0.722000	0.30670	0.790000	0.44656	-0.060000	0.11712	1.353000	0.45828	0.655000	0.94253	GCC		0.662	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		6	64	0	0	0	1	0	6	64				
ZNF782	158431	broad.mit.edu	37	9	99580223	99580223	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99580223T>G	ENST00000481138.1	-	6	2743	c.2082A>C	c.(2080-2082)aaA>aaC	p.K694N	ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	694					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTGGGTGGGCTTTCTGATGTT	0.388																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(2080-2082)aaA>aaC		zinc finger protein 782							75.0	78.0	77.0					9																	99580223		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99580223T>G	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.2082A>C	9.37:g.99580223T>G	ENSP00000419397:p.Lys694Asn					ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N	p.K694N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	2743	-		Acute lymphoblastic leukemia(62;0.0527)	694					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.2082A>C	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.27|14.27	2.484678|2.484678	0.44147|0.44147	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.16457|.	2.34;2.34|.	2.87|2.87	-0.0922|-0.0922	0.13658|0.13658	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.42086|0.42086	0.1187|0.1187	M|M	0.63169|0.63169	1.94|1.94	0.20403|0.20403	N|N	0.999904|0.999904	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	T|T	0.36383|0.36383	-0.9750|-0.9750	9|5	0.87932|.	D|.	0|.	.|.	6.0568|6.0568	0.19816|0.19816	0.0:0.3139:0.0:0.6861|0.0:0.3139:0.0:0.6861	.|.	694|.	Q6ZMW2|.	ZN782_HUMAN|.	N|R	694;562|683	ENSP00000419397:K694N;ENSP00000440624:K562N|.	ENSP00000419397:K694N|.	K|S	-|-	3|1	2|0	ZNF782|ZNF782	98620044|98620044	0.000000|0.000000	0.05858|0.05858	0.464000|0.464000	0.27143|0.27143	0.890000|0.890000	0.51754|0.51754	-0.677000|-0.677000	0.05215|0.05215	-0.037000|-0.037000	0.13646|0.13646	0.533000|0.533000	0.62120|0.62120	AAA|AGC		0.388	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		103	330	0	0	0	1	0	103	330				
CD101	9398	broad.mit.edu	37	1	117556224	117556224	+	Silent	SNP	T	T	C	rs201248748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117556224T>C	ENST00000256652.4	+	4	1096	c.1038T>C	c.(1036-1038)agT>agC	p.S346S	CD101_ENST00000369470.1_Silent_p.S346S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	346	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGCAAGTCAAGGAGAGC	0.498																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1036-1038)agT>agC		CD101 molecule							104.0	103.0	103.0					1																	117556224		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117556224T>C	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1038T>C	1.37:g.117556224T>C						CD101_ENST00000369470.1_Silent_p.S346S	p.S346S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			4	1096	+			346			Ig-like C2-type 3.		Q15856	Silent	SNP	ENST00000256652.4	37	c.1038T>C	CCDS891.1																																																																																				0.498	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		27	267	0	0	0	1	0	27	267				
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1849-1851)ttC>ttA		ubiquitin specific peptidase 16							126.0	130.0	129.0					21																	30419482		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419482C>A	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1851C>A	21.37:g.30419482C>A	ENSP00000334808:p.Phe617Leu					USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L	p.F617L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			15	2082	+			617						Missense_Mutation	SNP	ENST00000334352.4	37	c.1851C>A	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892456	0.72524	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.34072	3.3;3.3;3.3;1.38	4.99	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.52011	1.625	0.58432	D	0.999996	D;D;P;P	0.71674	0.994;0.998;0.955;0.592	D;D;P;P	0.80764	0.968;0.994;0.882;0.849	T	0.44772	-0.9306	10	0.62326	D	0.03	.	6.6131	0.22763	0.0:0.6976:0.0:0.3024	.	246;602;616;617	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	L	616;617;617;246	ENSP00000382857:F616L;ENSP00000382858:F617L;ENSP00000334808:F617L;ENSP00000442855:F246L	ENSP00000334808:F617L	F	+	3	2	USP16	29341353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.598000	0.36740	1.346000	0.45694	0.591000	0.81541	TTC		0.363	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			75	647	1	0	4.18771e-30	1	4.90557e-30	75	647				
AREL1	9870	broad.mit.edu	37	14	75142502	75142502	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75142502G>T	ENST00000356357.4	-	8	1495	c.980C>A	c.(979-981)tCc>tAc	p.S327Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	327					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AACAGCAGTGGATGGCCGGCG	0.517																																						ENST00000356357.4																			0											c.(979-981)tCc>tAc		apoptosis resistant E3 ubiquitin protein ligase 1							167.0	180.0	175.0					14																	75142502		2107	4229	6336	SO:0001583	missense	9870							g.chr14:75142502G>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.980C>A	14.37:g.75142502G>T	ENSP00000348714:p.Ser327Tyr					AREL1_ENST00000557401.1_5'UTR	p.S327Y	NM_001039479.1	NP_001034568.1					8	1495	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.980C>A	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.998106|3.998106	0.74818|0.74818	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000490805|ENST00000356357;ENST00000543377;ENST00000556202	.|T;T	.|0.51071	.|0.72;0.72	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.104877	.|0.64402	.|D	.|0.000002	T|T	0.63943|0.63943	0.2554|0.2554	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.989	.|D;P	.|0.74348	.|0.983;0.795	T|T	0.64428|0.64428	-0.6410|-0.6410	5|10	.|0.72032	.|D	.|0.01	.|.	18.0383|18.0383	0.89312|0.89312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327;327	.|O15033-2;O15033	.|.;K0317_HUMAN	T|Y	75|327;166;166	.|ENSP00000348714:S327Y;ENSP00000452101:S166Y	.|ENSP00000348714:S327Y	P|S	-|-	1|2	0|0	KIAA0317|KIAA0317	74212255|74212255	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.453000|0.453000	0.32348|0.32348	9.201000|9.201000	0.95017|0.95017	2.700000|2.700000	0.92200|0.92200	0.467000|0.467000	0.42956|0.42956	CCA|TCC		0.517	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		236	1017	1	0	6.51915e-81	1	8.33962e-81	236	1017				
FRMD4B	23150	broad.mit.edu	37	3	69230103	69230103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69230103G>T	ENST00000398540.3	-	21	2881	c.2798C>A	c.(2797-2799)gCg>gAg	p.A933E	FRMD4B_ENST00000478263.1_Missense_Mutation_p.A585E|FRMD4B_ENST00000542259.1_Missense_Mutation_p.A879E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	933					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)		p.A879V(2)|p.A933V(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTGCAGCCCCGCAAACCCCAG	0.542																																						ENST00000542259.1																			3	Substitution - Missense(3)	p.A879V(2)|p.A933V(1)	kidney(2)|prostate(1)	NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19						c.(2635-2637)gCg>gAg		FERM domain containing 4B							85.0	83.0	84.0					3																	69230103		1992	4158	6150	SO:0001583	missense	23150					cytoplasm|cytoskeleton	binding	g.chr3:69230103G>T	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2798C>A	3.37:g.69230103G>T	ENSP00000381549:p.Ala933Glu					FRMD4B_ENST00000398540.3_Missense_Mutation_p.A933E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.A585E	p.A879E			Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	22	3087	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	933					Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	c.2636C>A	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446531	0.25987	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.83075	-1.68;-1.68	5.83	4.95	0.65309	.	0.561852	0.19950	N	0.102453	T	0.79724	0.4495	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.20887	0.033;0.049	B;B	0.20384	0.027;0.029	T	0.67719	-0.5598	10	0.35671	T	0.21	-1.3754	15.4314	0.75102	0.0:0.2619:0.7381:0.0	.	777;933	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	E	933;879;585	ENSP00000381549:A933E;ENSP00000437658:A879E	ENSP00000381549:A933E	A	-	2	0	FRMD4B	69312793	0.887000	0.30362	0.233000	0.24025	0.801000	0.45260	3.820000	0.55693	1.438000	0.47492	0.591000	0.81541	GCG		0.542	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			67	273	1	0	3.07281e-33	1	3.63882e-33	67	273				
FRMD4A	55691	broad.mit.edu	37	10	13698655	13698655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13698655C>A	ENST00000357447.2	-	22	3302	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	978	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTTGCACATCTGGGGCATCC	0.667																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2932-2934)caG>caT		FERM domain containing 4A							39.0	36.0	37.0					10																	13698655		2202	4300	6502	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698655C>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2934G>T	10.37:g.13698655C>A	ENSP00000350032:p.Gln978His					FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H	p.Q978H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	3302	-			978			Ser-rich.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2934G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673393	0.29693	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83755	-1.76;-1.76;-1.76	4.78	4.78	0.61160	.	0.112219	0.64402	D	0.000010	T	0.65428	0.2690	N	0.08118	0	0.28951	N	0.890379	P	0.39576	0.679	B	0.34722	0.188	T	0.66728	-0.5850	10	0.52906	T	0.07	-17.5835	11.3625	0.49651	0.0:0.9164:0.0:0.0836	.	978	Q9P2Q2	FRM4A_HUMAN	H	963;978;978	ENSP00000351438:Q963H;ENSP00000350032:Q978H;ENSP00000367764:Q978H	ENSP00000350032:Q978H	Q	-	3	2	FRMD4A	13738661	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.042000	0.49815	2.196000	0.70406	0.205000	0.17691	CAG		0.667	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		8	101	1	0	5.18039e-06	1	5.32547e-06	8	101				
PARP8	79668	broad.mit.edu	37	5	50090042	50090042	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50090042A>T	ENST00000281631.5	+	11	897	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	PARP8_ENST00000514067.2_Splice_Site_p.I247F|PARP8_ENST00000505697.2_Splice_Site_p.I247F|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Splice_Site_p.I247F|PARP8_ENST00000505554.1_Splice_Site_p.I226F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	247						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATTGACAGAATCATGCAGAC	0.338																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e11-1		poly (ADP-ribose) polymerase family, member 8							82.0	84.0	83.0					5																	50090042		2203	4300	6503	SO:0001630	splice_region_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090042A>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.738-1A>T	5.37:g.50090042A>T						PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Splice_Site_p.I247_splice|PARP8_ENST00000505554.1_Splice_Site_p.I226_splice|PARP8_ENST00000503750.2_Splice_Site_p.I247_splice|PARP8_ENST00000505697.2_Splice_Site_p.I247_splice|PARP8_ENST00000511363.2_3'UTR	p.I247_splice	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			11	897	+		Lung NSC(810;0.0305)|Breast(144;0.222)	247					Q3KRB7|Q6DHZ1|Q9H754	Splice_Site	SNP	ENST00000281631.5	37	c.737_splice	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986158	0.53934	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.43923	1.385	0.80722	D	1	B;D;D	0.53885	0.064;0.962;0.963	B;P;P	0.49853	0.046;0.608;0.624	T	0.49447	-0.8939	8	.	.	.	-13.2808	10.9049	0.47073	0.9264:0.0:0.0736:0.0	.	139;247;247	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	247;247;247;247;226	.	.	I	+	1	0	PARP8	50125799	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.649000	0.74364	2.172000	0.68678	0.533000	0.62120	ATC		0.338	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	Missense_Mutation	54	205	0	0	0	1	0	54	205				
SUGCT	79783	broad.mit.edu	37	7	40234621	40234621	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40234621A>C	ENST00000335693.4	+	6	490	c.467A>C	c.(466-468)gAc>gCc	p.D156A	C7orf10_ENST00000401647.2_Missense_Mutation_p.D156A|C7orf10_ENST00000309930.5_Missense_Mutation_p.D156A|C7orf10_ENST00000540834.1_Missense_Mutation_p.D149A	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		156					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGATATAGACGAGATTGCT	0.433																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(466-468)gAc>gCc		chromosome 7 open reading frame 10							240.0	240.0	240.0					7																	40234621		1942	4139	6081	SO:0001583	missense	79783						transferase activity	g.chr7:40234621A>C																												ENST00000335693.4:c.467A>C	7.37:g.40234621A>C	ENSP00000338475:p.Asp156Ala					C7orf10_ENST00000540834.1_Missense_Mutation_p.D149A|C7orf10_ENST00000335693.4_Missense_Mutation_p.D156A|C7orf10_ENST00000401647.2_Missense_Mutation_p.D156A	p.D156A	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			6	491	+			156					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.467A>C	CCDS55105.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	11.23|11.23|11.23	1.578858|1.578858|1.578858	0.28180|0.28180|0.28180	.|.|.	.|.|.	ENSG00000175600|ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931|ENST00000416370	T;T;T;T|.|.	0.51817|.|.	0.69;0.69;0.69;0.69|.|.	5.76|5.76|5.76	4.59|4.59|4.59	0.56863|0.56863|0.56863	CoA-transferase family III domain (2);|.|.	0.624559|.|.	0.18514|.|.	N|.|.	0.138967|.|.	T|T|T	0.09905|0.09905|0.09905	0.0243|0.0243|0.0243	N|N|N	0.00395|0.00395|0.00395	-1.55|-1.55|-1.55	0.31603|0.31603|0.31603	N|N|N	0.652456|0.652456|0.652456	B;B|.|.	0.11235|.|.	0.004;0.001|.|.	B;B|.|.	0.17098|.|.	0.017;0.017|.|.	T|T|T	0.09143|0.09143|0.09143	-1.0688|-1.0688|-1.0688	10|5|5	0.44086|.|.	T|.|.	0.13|.|.	-7.9835|-7.9835|-7.9835	11.2341|11.2341|11.2341	0.48929|0.48929|0.48929	0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0	.|.|.	156;156|.|.	Q4KMW8;Q9HAC7|.|.	.;CG010_HUMAN|.|.	A|S|P	156;156;156;149|167|151	ENSP00000312054:D156A;ENSP00000385222:D156A;ENSP00000338475:D156A;ENSP00000445521:D149A|.|.	ENSP00000312054:D156A|.|.	D|R|T	+|+|+	2|3|1	0|2|0	C7orf10|C7orf10|C7orf10	40201146|40201146|40201146	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	0.973000|0.973000|0.973000	0.42090|0.42090|0.42090	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	3.322000|3.322000|3.322000	0.52007|0.52007|0.52007	2.192000|2.192000|2.192000	0.70111|0.70111|0.70111	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAC|AGA|ACG		0.433	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			139	695	0	0	0	1	0	139	695				
MKRN2	23609	broad.mit.edu	37	3	12613662	12613662	+	Silent	SNP	G	G	A	rs561540465		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12613662G>A	ENST00000170447.7	+	4	569	c.432G>A	c.(430-432)ccG>ccA	p.P144P	MKRN2_ENST00000411987.1_Silent_p.P101P|MKRN2_ENST00000448482.1_Silent_p.P142P	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	144					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGATGAAGCCGCATTCCTACC	0.612																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(430-432)ccG>ccA		makorin ring finger protein 2							60.0	62.0	61.0					3																	12613662		2203	4300	6503	SO:0001819	synonymous_variant	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12613662G>A		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.432G>A	3.37:g.12613662G>A						MKRN2_ENST00000448482.1_Silent_p.P142P|MKRN2_ENST00000411987.1_Silent_p.P101P	p.P144P	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			4	569	+			144					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Silent	SNP	ENST00000170447.7	37	c.432G>A	CCDS33702.1																																																																																				0.612	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		53	246	0	0	0	1	0	53	246				
FMO2	2327	broad.mit.edu	37	1	171177942	171177942	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171177942A>G	ENST00000209929.7	+	9	1424	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	FMO2_ENST00000441535.1_Silent_p.E422E|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	422					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTTTGGAGAAAGCCAGAGCC	0.408																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(1264-1266)gaA>gaG		flavin containing monooxygenase 2 (non-functional)							152.0	147.0	149.0					1																	171177942		2203	4300	6503	SO:0001819	synonymous_variant	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171177942A>G	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1266A>G	1.37:g.171177942A>G						FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Silent_p.E422E|RP1-127D3.4_ENST00000445290.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	p.E422E	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			9	1383	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		422					Q53XR0	Silent	SNP	ENST00000209929.7	37	c.1266A>G	CCDS1293.1																																																																																				0.408	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		120	649	0	0	0	1	0	120	649				
ITGB3	3690	broad.mit.edu	37	17	45360742	45360742	+	Missense_Mutation	SNP	G	G	A	rs370054364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45360742G>A	ENST00000559488.1	+	3	204	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H|ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	63					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GGCTCACCTCGCTGTGACCTG	0.572																																						ENST00000559488.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(187-189)cGc>cAc		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)	G	HIS/ARG	0,4406		0,0,2203	71.0	64.0	67.0		188	5.9	1.0	17		67	2,8598	1.2+/-3.3	0,2,4298	no	missense	ITGB3	NM_000212.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	63/789	45360742	2,13004	2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45360742G>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.188G>A	17.37:g.45360742G>A	ENSP00000452786:p.Arg63His					ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H	p.R63H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN			3	204	+			63					A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.188G>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198349	0.94997	0.0	2.33E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95788	-3.81	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98928	1.0786	10	0.87932	D	0	.	17.703	0.88301	0.0:0.0:1.0:0.0	.	63;63	P05106;Q2YFE1	ITB3_HUMAN;.	H	63;16	ENSP00000407801:R16H	ENSP00000262017:R63H	R	+	2	0	C17orf57	42715741	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.824000	0.99380	2.776000	0.95493	0.655000	0.94253	CGC		0.572	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		45	196	0	0	0	1	0	45	196				
SYNE1	23345	broad.mit.edu	37	6	152749391	152749391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749391C>A	ENST00000367255.5	-	37	5526	c.4925G>T	c.(4924-4926)aGg>aTg	p.R1642M	SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1642					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTTCGCCCTCCTTAGGAT	0.532										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4924-4926)aGg>aTg		spectrin repeat containing, nuclear envelope 1							194.0	198.0	196.0					6																	152749391		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749391C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4925G>T	6.37:g.152749391C>A	ENSP00000356224:p.Arg1642Met	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M	p.R1642M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5526	-		Ovarian(120;0.0955)	1642					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4925G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259821	0.23051	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.87	-11.7	0.00046	.	1.048510	0.07479	N	0.903606	T	0.11750	0.0286	N	0.08118	0	0.09310	N	0.999998	B;P;P;P;P	0.39131	0.291;0.661;0.606;0.661;0.474	B;B;B;B;B	0.43575	0.125;0.155;0.424;0.155;0.333	T	0.54543	-0.8278	10	0.46703	T	0.11	.	13.5599	0.61782	0.0625:0.1615:0.066:0.71	.	1625;1642;1642;1642;1649	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	M	1642;1649;1642;1649;1712;1642	ENSP00000356224:R1642M;ENSP00000396024:R1649M;ENSP00000265368:R1642M;ENSP00000390975:R1649M;ENSP00000341887:R1712M;ENSP00000356222:R1642M	ENSP00000265368:R1642M	R	-	2	0	SYNE1	152791084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-3.066000	0.00255	-0.782000	0.03352	AGG		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	1380	1	0	5.35267e-07	1	5.54261e-07	30	1380				
MOSPD3	64598	broad.mit.edu	37	7	100210841	100210841	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210841A>G	ENST00000393950.2	+	2	512	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	77	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGCCAAATACACGGTGTTT	0.582																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(229-231)tAc>tGc		motile sperm domain containing 3							231.0	203.0	212.0					7																	100210841		2203	4300	6503	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100210841A>G	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.230A>G	7.37:g.100210841A>G	ENSP00000377522:p.Tyr77Cys					MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C	p.Y77C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			2	512	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		77			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.230A>G	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763357	0.69763	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	3.85	3.85	0.44370	PapD-like (2);	0.259259	0.26746	N	0.022719	D	0.82595	0.5071	L	0.61036	1.89	0.45216	D	0.998222	D;D	0.89917	1.0;0.983	D;P	0.87578	0.998;0.88	D	0.84133	0.0413	10	0.87932	D	0	-1.438	11.3049	0.49329	1.0:0.0:0.0:0.0	.	77;77	C9JE89;O75425	.;MSPD3_HUMAN	C	77;77;77;77;77;63	ENSP00000223054:Y77C;ENSP00000417276:Y77C;ENSP00000368842:Y77C;ENSP00000377522:Y77C;ENSP00000404626:Y77C	ENSP00000223054:Y77C	Y	+	2	0	MOSPD3	100048777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.788000	0.47806	1.994000	0.58287	0.374000	0.22700	TAC		0.582	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		199	775	0	0	0	1	0	199	775				
AFAP1L2	84632	broad.mit.edu	37	10	116092980	116092980	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116092980C>A	ENST00000304129.4	-	3	249	c.220G>T	c.(220-222)Gcg>Tcg	p.A74S	AFAP1L2_ENST00000545353.1_Splice_Site_p.A74S|AFAP1L2_ENST00000369271.3_Splice_Site_p.A74S			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	74					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGCCTCATACCTTTGCCTTGA	0.522																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.e3+1		actin filament associated protein 1-like 2							335.0	248.0	277.0					10																	116092980		2203	4300	6503	SO:0001630	splice_region_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116092980C>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.220+1G>T	10.37:g.116092980C>A						AFAP1L2_ENST00000545353.1_Splice_Site_p.A74_splice|AFAP1L2_ENST00000304129.4_Splice_Site_p.A74_splice	p.A74_splice	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	3	520	-		Colorectal(252;0.175)|Breast(234;0.231)	74					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Splice_Site	SNP	ENST00000304129.4	37	c.220_splice	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746237	0.30955	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.37	5.37	0.77165	.	2.007730	0.01932	N	0.041313	T	0.44180	0.1281	N	0.25647	0.755	0.28073	N	0.932482	B;B;B;B;B	0.19583	0.018;0.01;0.026;0.037;0.022	B;B;B;B;B	0.17722	0.017;0.005;0.019;0.008;0.004	T	0.34229	-0.9837	9	.	.	.	-2.2251	16.4023	0.83644	0.0:1.0:0.0:0.0	.	74;74;74;74;74	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	S	74;74;73;92;74;92	ENSP00000358276:A74S;ENSP00000303042:A74S;ENSP00000444511:A74S;ENSP00000396781:A92S	.	A	-	1	0	AFAP1L2	116082970	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.681000	0.61663	2.673000	0.90976	0.655000	0.94253	GCG		0.522	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550	Missense_Mutation	89	364	1	0	7.49063e-41	1	9.091e-41	89	364				
COPB1	1315	broad.mit.edu	37	11	14502316	14502316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14502316C>T	ENST00000249923.3	-	10	1501	c.1201G>A	c.(1201-1203)Gtt>Att	p.V401I	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Missense_Mutation_p.V401I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	401					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACAGGAATAACATTTGCAGCC	0.323																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1201-1203)Gtt>Att		coatomer protein complex, subunit beta 1							125.0	115.0	119.0					11																	14502316		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14502316C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1201G>A	11.37:g.14502316C>T	ENSP00000249923:p.Val401Ile					COPB1_ENST00000439561.2_Missense_Mutation_p.V401I	p.V401I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			10	1501	-			401					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1201G>A	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265476	0.59431	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.27402	1.67;1.67;1.67	5.22	5.22	0.72569	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	L	0.33137	0.985	0.80722	D	1	B	0.24368	0.102	B	0.37508	0.252	T	0.12837	-1.0532	10	0.39692	T	0.17	.	18.7787	0.91922	0.0:1.0:0.0:0.0	.	401	P53618	COPB_HUMAN	I	401	ENSP00000249923:V401I;ENSP00000397873:V401I;ENSP00000436383:V401I	ENSP00000249923:V401I	V	-	1	0	COPB1	14458892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.086000	0.71352	2.426000	0.82243	0.655000	0.94253	GTT		0.323	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		18	504	0	0	0	1	0	18	504				
COL4A5	1287	broad.mit.edu	37	X	107936017	107936017	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107936017C>A	ENST00000361603.2	+	48	4794	c.4550C>A	c.(4549-4551)cCt>cAt	p.P1517H	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1523H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1517	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		P -> T (in APSX; juvenile type). {ECO:0000269|PubMed:8406498, ECO:0000269|PubMed:9452056}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGTACCATGCCTTTCATGTTC	0.438									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4567-4569)cCt>cAt		collagen, type IV, alpha 5							129.0	99.0	109.0					X																	107936017		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107936017C>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4550C>A	X.37:g.107936017C>A	ENSP00000354505:p.Pro1517His					COL4A5_ENST00000361603.2_Missense_Mutation_p.P1517H	p.P1523H	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			50	4812	+			1517			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4568C>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821469	0.90873	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95069	-3.6;-3.6	5.82	5.82	0.92795	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99632	1.0986	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	1520;1517	E7EVY4;P29400	.;CO4A5_HUMAN	H	1523;1517;1523	ENSP00000331902:P1523H;ENSP00000354505:P1517H	ENSP00000331902:P1523H	P	+	2	0	COL4A5	107822673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.594000	0.82650	CCT		0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			75	253	1	0	1.58458e-29	1	1.85199e-29	75	253				
CCDC74A	90557	broad.mit.edu	37	2	132287250	132287250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132287250C>T	ENST00000295171.6	+	2	419	c.281C>T	c.(280-282)aCa>aTa	p.T94I	CCDC74A_ENST00000467992.2_5'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I|CCDC74A_ENST00000478665.1_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	94										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGAATCAGACATCACAGAAG	0.527																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(280-282)aCa>aTa		coiled-coil domain containing 74A							154.0	137.0	143.0					2																	132287250		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132287250C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.281C>T	2.37:g.132287250C>T	ENSP00000295171:p.Thr94Ile					CCDC74A_ENST00000467992.2_5'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I|CCDC74A_ENST00000478665.1_3'UTR	p.T94I	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			2	419	+			94					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.281C>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	8.521	0.868682	0.17322	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330	T;T;T	0.48836	0.89;0.89;0.8	2.88	1.67	0.24075	.	0.352407	0.22562	U	0.058455	T	0.23532	0.0569	N	0.08118	0	0.80722	D	1	P;B;B	0.41910	0.764;0.131;0.277	B;B;B	0.38500	0.275;0.062;0.143	T	0.03840	-1.0999	10	0.56958	D	0.05	-9.7791	6.0112	0.19578	0.7222:0.2778:0.0:0.0	.	94;94;94	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	I	94;94;89	ENSP00000295171:T94I;ENSP00000387009:T94I;ENSP00000406839:T89I	ENSP00000295171:T94I	T	+	2	0	CCDC74A	132003720	0.973000	0.33851	0.267000	0.24556	0.598000	0.36846	1.220000	0.32491	0.152000	0.19188	0.194000	0.17425	ACA		0.527	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		30	312	0	0	0	1	0	30	312				
KMT2D	8085	broad.mit.edu	37	12	49416497	49416497	+	Missense_Mutation	SNP	C	C	T	rs566674356		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49416497C>T	ENST00000301067.7	-	51	16213	c.16214G>A	c.(16213-16215)cGt>cAt	p.R5405H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5405	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCCTGGATACGGGAGCGAGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20205	0.0		0.0	False		,,,				2504	0.001					ENST00000301067.7																			0											c.(16213-16215)cGt>cAt		lysine (K)-specific methyltransferase 2D							123.0	132.0	129.0					12																	49416497		2040	4182	6222	SO:0001583	missense	8085							g.chr12:49416497C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16214G>A	12.37:g.49416497C>T	ENSP00000301067:p.Arg5405His						p.R5405H	NM_003482.3	NP_003473.3					51	16213	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16214G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901571	0.52227	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.86432	-2.12;-2.12	5.09	5.09	0.68999	SET domain (2);	0.000000	0.36167	N	0.002742	D	0.92753	0.7696	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93407	0.6765	10	0.87932	D	0	.	17.6392	0.88130	0.0:1.0:0.0:0.0	.	5405	O14686	MLL2_HUMAN	H	5405;86	ENSP00000301067:R5405H;ENSP00000435714:R86H	ENSP00000301067:R5405H	R	-	2	0	MLL2	47702764	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	5.980000	0.70516	2.546000	0.85860	0.591000	0.81541	CGT		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			115	551	0	0	0	1	0	115	551				
SAMD4B	55095	broad.mit.edu	37	19	39847484	39847484	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39847484G>A	ENST00000314471.6	+	0	986				SAMD4B_ENST00000596368.1_De_novo_Start_OutOfFrame|SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000598913.1_De_novo_Start_OutOfFrame	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGTGACGGCGCTGGCCCTCG	0.677																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15								sterile alpha motif domain containing 4B							18.0	14.0	15.0					19																	39847484		2199	4290	6489			55095						protein binding	g.chr19:39847484G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.-50G>A	19.37:g.39847484G>A						SAMD4B_ENST00000598913.1_De_novo_Start_OutOfFrame|SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000596368.1_De_novo_Start_OutOfFrame		NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		0	986	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)							A5Z0M6|Q6P194	Translation_Start_Site	SNP	ENST00000314471.6	37		CCDS33020.1																																																																																				0.677	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		12	63	0	0	0	1	0	12	63				
INPP4B	8821	broad.mit.edu	37	4	143003299	143003299	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:143003299T>C	ENST00000513000.1	-	26	2960	c.2527A>G	c.(2527-2529)Aaa>Gaa	p.K843E	INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	843					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTGGCACTTTTACAACAGGTG	0.418																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2527-2529)Aaa>Gaa		inositol polyphosphate-4-phosphatase, type II, 105kDa							161.0	140.0	147.0					4																	143003299		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003299T>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2527A>G	4.37:g.143003299T>C	ENSP00000425487:p.Lys843Glu					INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E|INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E	p.K843E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			26	2960	-	all_hematologic(180;0.158)		843					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2527A>G	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	30	5.051655	0.93793	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838	T;T;T;T;T;T	0.32023	1.48;1.48;1.48;1.48;1.47;1.51	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71017	-0.4714	10	0.87932	D	0	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	843	O15327	INP4B_HUMAN	E	843;843;843;843;843;658	ENSP00000425487:K843E;ENSP00000262992:K843E;ENSP00000308441:K843E;ENSP00000423954:K843E;ENSP00000422793:K843E;ENSP00000426207:K658E	ENSP00000262992:K843E	K	-	1	0	INPP4B	143222749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.232000	0.73038	0.528000	0.53228	AAA		0.418	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		48	276	0	0	0	1	0	48	276				
PCDHGA3	56112	broad.mit.edu	37	5	140724707	140724707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724707C>T	ENST00000253812.6	+	1	1107	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	369	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I369I(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCTTATCGACGTGCATG	0.438																																						ENST00000253812.6																			1	Substitution - coding silent(1)	p.I369I(1)	endometrium(1)	breast(1)	1						c.(1105-1107)atC>atT									116.0	119.0	118.0					5																	140724707		1991	4188	6179	SO:0001819	synonymous_variant	0							g.chr5:140724707C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1107C>T	5.37:g.140724707C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.I369I	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1107	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1107C>T	CCDS47290.1																																																																																				0.438	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		38	385	0	0	0	1	0	38	385				
PRRT3	285368	broad.mit.edu	37	3	9988167	9988167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9988167G>A	ENST00000412055.1	-	4	2819	c.2690C>T	c.(2689-2691)gCt>gTt	p.A897V	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	897						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGAAGCCGCAGCGGCTGCCCC	0.692																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(2689-2691)gCt>gTt		proline-rich transmembrane protein 3							4.0	6.0	5.0					3																	9988167		1691	3731	5422	SO:0001583	missense	285368					integral to membrane		g.chr3:9988167G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.2690C>T	3.37:g.9988167G>A	ENSP00000392511:p.Ala897Val						p.A897V	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			4	2819	-			897					Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.2690C>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	4.230	0.041659	0.08196	.	.	ENSG00000163704	ENST00000412055	T	0.15603	2.41	3.27	-0.221	0.13126	.	0.669651	0.12827	N	0.435914	T	0.07324	0.0185	N	0.08118	0	0.43130	D	0.994861	B	0.20671	0.047	B	0.21917	0.037	T	0.34229	-0.9837	9	.	.	.	-0.0266	7.4875	0.27441	0.0:0.5147:0.311:0.1743	.	897	Q5FWE3	PRRT3_HUMAN	V	897	ENSP00000392511:A897V	.	A	-	2	0	PRRT3	9963167	0.009000	0.17119	0.001000	0.08648	0.440000	0.31957	0.593000	0.23999	0.153000	0.19213	0.491000	0.48974	GCT		0.692	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		6	41	0	0	0	1	0	6	41				
FGD5	152273	broad.mit.edu	37	3	14862336	14862336	+	Silent	SNP	G	G	A	rs201965283		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1756-1758)tcG>tcA		FYVE, RhoGEF and PH domain containing 5							47.0	49.0	48.0					3																	14862336		1976	4155	6131	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862336G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1758G>A	3.37:g.14862336G>A						FGD5_ENST00000543601.1_Silent_p.S345S	p.S586S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1868	+			586					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1758G>A	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		70	264	0	0	0	1	0	70	264				
NUSAP1	51203	broad.mit.edu	37	15	41657701	41657701	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41657701G>A	ENST00000559596.1	+	7	849	c.762G>A	c.(760-762)cgG>cgA	p.R254R	NUSAP1_ENST00000414849.2_Silent_p.R253R|NUSAP1_ENST00000260359.6_Silent_p.R239R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.R254R			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	254	Interaction with microtubules. {ECO:0000250}.				establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CGCAAGGCCGGTCTTGTGGCC	0.547																																						ENST00000260359.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13						c.(715-717)cgG>cgA		nucleolar and spindle associated protein 1							35.0	35.0	35.0					15																	41657701		1897	4138	6035	SO:0001819	synonymous_variant	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41657701G>A	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.762G>A	15.37:g.41657701G>A						NUSAP1_ENST00000559596.1_Silent_p.R254R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.R254R|NUSAP1_ENST00000414849.2_Silent_p.R253R	p.R239R	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	7	981	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	254			Interaction with microtubules (By similarity).		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Silent	SNP	ENST00000559596.1	37	c.717G>A	CCDS45234.1																																																																																				0.547	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		24	97	0	0	0	1	0	24	97				
BRD2	6046	broad.mit.edu	37	6	32947695	32947695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32947695C>T	ENST00000374825.4	+	11	3633	c.1932C>T	c.(1930-1932)taC>taT	p.Y644Y	BRD2_ENST00000374831.4_Silent_p.Y644Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000395287.1_Silent_p.Y679Y|BRD2_ENST00000395289.2_Silent_p.Y679Y	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	644	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CCATGAGTTACGATGAGAAGC	0.547																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2035-2037)taC>taT		bromodomain containing 2							51.0	52.0	52.0					6																	32947695		1511	2709	4220	SO:0001819	synonymous_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32947695C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1932C>T	6.37:g.32947695C>T						BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000395287.1_Silent_p.Y679Y|BRD2_ENST00000374825.4_Silent_p.Y644Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000374831.4_Silent_p.Y644Y	p.Y679Y			P25440	BRD2_HUMAN			12	3638	+			644			ET.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	37	c.2037C>T	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161641	0.21538	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.51	-7.03	0.01584	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64394	-0.6418	4	.	.	.	-11.7188	16.3828	0.83481	0.0:0.271:0.0:0.729	.	.	.	.	M	650	.	.	T	+	2	0	BRD2	33055673	0.000000	0.05858	0.535000	0.28026	0.992000	0.81027	-2.064000	0.01387	-1.651000	0.01504	-0.152000	0.13540	ACG		0.547	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			38	171	0	0	0	1	0	38	171				
FLYWCH1	84256	broad.mit.edu	37	16	2983257	2983257	+	Missense_Mutation	SNP	C	C	T	rs374956718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2983257C>T	ENST00000253928.9	+	5	1328	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.A308V|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	308						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CGGGACCACGCGCTGCACGGC	0.667																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(922-924)gCg>gTg		FLYWCH-type zinc finger 1		C	VAL/ALA,VAL/ALA	0,4200		0,0,2100	21.0	25.0	24.0		920,920	1.2	0.0	16		24	1,8409		0,1,4204	no	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	64,64	0,1,6304	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging,possibly-damaging	307/704,307/716	2983257	1,12609	2100	4205	6305	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983257C>T	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.923C>T	16.37:g.2983257C>T	ENSP00000253928:p.Ala308Val					FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.A308V	p.A308V			Q4VC44	FWCH1_HUMAN			5	1286	+			308					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.923C>T		.	.	.	.	.	.	.	.	.	.	C	5.962	0.361467	0.11296	0.0	1.19E-4	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.29	1.16	0.20824	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.35393	0.0930	L	0.48642	1.525	0.09310	N	1	B;D	0.61697	0.106;0.99	B;P	0.48704	0.018;0.587	T	0.16424	-1.0403	8	0.59425	D	0.04	.	7.0628	0.25135	0.0:0.6751:0.0:0.3249	.	308;307	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	V	308;308;307	.	ENSP00000253928:A308V	A	+	2	0	FLYWCH1	2923258	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.149000	0.10204	0.399000	0.25367	-0.258000	0.10820	GCG		0.667	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		24	123	0	0	0	1	0	24	123				
GAB4	128954	broad.mit.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502																																						ENST00000400588.1																			1	Substitution - Missense(1)	p.R92P(1)	kidney(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(274-276)cGc>cAc		GRB2-associated binding protein family, member 4							211.0	222.0	218.0					22																	17472966		2195	4300	6495	SO:0001583	missense	128954							g.chr22:17472966C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.275G>A	22.37:g.17472966C>T	ENSP00000383431:p.Arg92His					GAB4_ENST00000523144.1_5'UTR	p.R92H	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			2	382	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	92			PH.			Missense_Mutation	SNP	ENST00000400588.1	37	c.275G>A	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296431	0.40594	.	.	ENSG00000215568	ENST00000400588	T	0.12361	2.69	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.32346	0.0826	M	0.75615	2.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.56958	D	0.05	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	H	92	ENSP00000383431:R92H	ENSP00000383431:R92H	R	-	2	0	GAB4	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC		0.502	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		216	985	0	0	0	1	0	216	985				
MACF1	23499	broad.mit.edu	37	1	39893757	39893757	+	Intron	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39893757T>G	ENST00000372915.3	+	61	16578				MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Missense_Mutation_p.L3472W|MACF1_ENST00000289893.4_Missense_Mutation_p.L3974W|MACF1_ENST00000564288.1_Missense_Mutation_p.L5534W|MACF1_ENST00000545844.1_Missense_Mutation_p.L3472W|MACF1_ENST00000567887.1_Missense_Mutation_p.L5571W|MACF1_ENST00000361689.2_Missense_Mutation_p.L3472W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAGACTCATTGCAGGCCCGA	0.522																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16600-16602)tTg>tGg		microtubule-actin crosslinking factor 1							116.0	105.0	109.0					1																	39893757		2203	4300	6503	SO:0001627	intron_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39893757T>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16491+471T>G	1.37:g.39893757T>G						MACF1_ENST00000317713.7_Missense_Mutation_p.L3472W|MACF1_ENST00000545844.1_Missense_Mutation_p.L3472W|MACF1_ENST00000567887.1_Missense_Mutation_p.L5571W|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L3974W|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Missense_Mutation_p.L3472W	p.L5534W			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		63	17378	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5539					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16601T>G		.	.	.	.	.	.	.	.	.	.	T	21.7	4.186676	0.78789	.	.	ENSG00000127603	ENST00000545844;ENST00000361689;ENST00000317713;ENST00000289893;ENST00000482035	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.84	5.84	0.93424	.	0.000000	0.43747	D	0.000534	T	0.76615	0.4012	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.79004	-0.1980	10	0.87932	D	0	.	16.2123	0.82170	0.0:0.0:0.0:1.0	.	3472;3416	F8W8Q1;Q9UPN3-3	.;.	W	3472;3472;3472;3974;288	ENSP00000439537:L3472W;ENSP00000354573:L3472W;ENSP00000313438:L3472W;ENSP00000289893:L3974W;ENSP00000433104:L288W	ENSP00000289893:L3974W	L	+	2	0	MACF1	39666344	0.994000	0.37717	0.992000	0.48379	0.996000	0.88848	2.250000	0.43178	2.231000	0.72958	0.455000	0.32223	TTG		0.522	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	235	0	0	0	1	0	15	235				
EP400	57634	broad.mit.edu	37	12	132561978	132561978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132561978G>A	ENST00000333577.4	+	54	9349	c.9240G>A	c.(9238-9240)gcG>gcA	p.A3080A	EP400_ENST00000332482.4_Silent_p.A3007A|EP400_ENST00000389561.2_Silent_p.A3044A|EP400_ENST00000389562.2_Silent_p.A3043A|RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000330386.6_Silent_p.A2963A			Q96L91	EP400_HUMAN	E1A binding protein p400	3080					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACGCAGGCGACGGCGGCCG	0.602																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(9238-9240)gcG>gcA		E1A binding protein p400							41.0	46.0	44.0					12																	132561978		2187	4272	6459	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132561978G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9240G>A	12.37:g.132561978G>A						EP400_ENST00000389562.2_Silent_p.A3043A|EP400_ENST00000389561.2_Silent_p.A3044A|EP400_ENST00000330386.6_Silent_p.A2963A|EP400_ENST00000332482.4_Silent_p.A3007A	p.A3080A			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	54	9349	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3080					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.9240G>A																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		18	468	0	0	0	1	0	18	468				
DDX46	9879	broad.mit.edu	37	5	134154631	134154631	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154631A>G	ENST00000354283.4	+	21	3046	c.2911A>G	c.(2911-2913)Acc>Gcc	p.T971A	DDX46_ENST00000452510.2_Missense_Mutation_p.T972A			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	971					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATCAGAGGAACCTACTTCCC	0.418																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2914-2916)Acc>Gcc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							98.0	96.0	96.0					5																	134154631		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134154631A>G		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2911A>G	5.37:g.134154631A>G	ENSP00000346236:p.Thr971Ala					DDX46_ENST00000354283.4_Missense_Mutation_p.T971A	p.T972A	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		21	3072	+			971					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2914A>G	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714081	0.68730	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.26660	1.72;1.72	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.72353	2.195	0.80722	D	1	P	0.39044	0.656	B	0.41466	0.358	T	0.21348	-1.0248	10	0.62326	D	0.03	-14.7115	15.9781	0.80086	1.0:0.0:0.0:0.0	.	971	Q7L014	DDX46_HUMAN	A	972;971	ENSP00000416534:T972A;ENSP00000346236:T971A	ENSP00000346236:T971A	T	+	1	0	DDX46	134182530	1.000000	0.71417	0.984000	0.44739	0.973000	0.67179	7.264000	0.78432	2.171000	0.68590	0.533000	0.62120	ACC		0.418	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		68	228	0	0	0	1	0	68	228				
TTLL3	26140	broad.mit.edu	37	3	9862345	9862345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9862345C>T	ENST00000547186.1	+	7	861	c.645C>T	c.(643-645)atC>atT	p.I215I	ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000383827.1_Silent_p.I3I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000430793.1_Silent_p.I3I|TTLL3_ENST00000455274.1_Silent_p.I3I	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	215	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACATGGACATCGACAAGGACC	0.587																																						ENST00000383827.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(7-9)atC>atT		tubulin tyrosine ligase-like family, member 3							158.0	138.0	145.0					3																	9862345		2203	4300	6503	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9862345C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.645C>T	3.37:g.9862345C>T						TTLL3_ENST00000430793.1_Silent_p.I3I|TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000547186.1_Silent_p.I215I|ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000455274.1_Silent_p.I3I	p.I3I			Q9Y4R7	TTLL3_HUMAN			1	2290	+	Medulloblastoma(99;0.227)		215					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.9C>T		.	.	.	.	.	.	.	.	.	.	C	10.93	1.490530	0.26686	.	.	ENSG00000214021	ENST00000310252;ENST00000452823	.	.	.	4.87	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5914	0.39548	0.0961:0.3039:0.0:0.6	.	.	.	.	X	171;133	.	.	R	+	1	2	TTLL3	9837345	0.001000	0.12720	0.899000	0.35326	0.993000	0.82548	-2.110000	0.01334	-1.158000	0.02811	-0.254000	0.11334	CGA		0.587	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		98	452	0	0	0	1	0	98	452				
OR52E4	390081	broad.mit.edu	37	11	5906196	5906196	+	Missense_Mutation	SNP	C	C	T	rs201376951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5906196C>T	ENST00000316987.2	+	1	696	c.674C>T	c.(673-675)gCt>gTt	p.A225V		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTTAGAGCTGTTTTTCGC	0.403																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(673-675)gCt>gTt		olfactory receptor, family 52, subfamily E, member 4							317.0	271.0	286.0					11																	5906196		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906196C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.674C>T	11.37:g.5906196C>T	ENSP00000321426:p.Ala225Val						p.A225V	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	696	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	225					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.674C>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152737	0.57259	.	.	ENSG00000180974	ENST00000316987	T	0.00227	8.5	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.129607	0.34580	N	0.003846	T	0.00328	0.0010	M	0.72894	2.215	0.35797	D	0.822858	P	0.34522	0.455	P	0.44811	0.461	T	0.70124	-0.4958	10	0.59425	D	0.04	.	12.349	0.55136	0.0:0.9179:0.0:0.0821	.	225	Q8NGH9	O52E4_HUMAN	V	225	ENSP00000321426:A225V	ENSP00000321426:A225V	A	+	2	0	OR52E4	5862772	0.003000	0.15002	0.902000	0.35471	0.744000	0.42396	1.002000	0.29796	1.390000	0.46547	0.643000	0.83706	GCT		0.403	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		21	924	0	0	0	1	0	21	924				
RYR3	6263	broad.mit.edu	37	15	33873841	33873841	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33873841C>A	ENST00000389232.4	+	14	1640	c.1570C>A	c.(1570-1572)Ctg>Atg	p.L524M	RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	524					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAAATTGCTGGGTAAGTA	0.458																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1570-1572)Ctg>Atg		ryanodine receptor 3							106.0	109.0	108.0					15																	33873841		1918	4134	6052	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33873841C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1570C>A	15.37:g.33873841C>A	ENSP00000373884:p.Leu524Met					RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	p.L524M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	14	1640	+		all_lung(180;7.18e-09)	524					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1570C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128371	0.37533	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95918	-3.85;-3.85	5.31	3.44	0.39384	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000010	D	0.97576	0.9206	M	0.88105	2.93	0.44221	D	0.99705	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.97111	0.9804	10	0.87932	D	0	.	10.0129	0.41997	0.0:0.7247:0.0:0.2753	.	524;524	Q15413-2;Q15413	.;RYR3_HUMAN	M	524	ENSP00000373884:L524M;ENSP00000399610:L524M	ENSP00000354735:L524M	L	+	1	2	RYR3	31661133	0.987000	0.35691	0.990000	0.47175	0.406000	0.30931	1.186000	0.32078	0.626000	0.30322	-0.251000	0.11542	CTG		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			66	304	1	0	2.26907e-38	1	2.73382e-38	66	304				
PSMD1	5707	broad.mit.edu	37	2	231927275	231927275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927275G>A	ENST00000308696.6	+	4	352	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T|PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	64					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGCCTTAGTGGCATCTAAAGT	0.418																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(190-192)Gca>Aca		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						91.0	95.0	94.0					2																	231927275		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231927275G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.190G>A	2.37:g.231927275G>A	ENSP00000309474:p.Ala64Thr					PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T|PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T	p.A64T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	4	352	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	64					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.190G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640935	0.96693	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.32515	1.45;1.45;1.45	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.78637	2.42	0.80722	D	1	P;D	0.58268	0.691;0.982	B;P	0.47470	0.259;0.548	T	0.45249	-0.9274	10	0.48119	T	0.1	-5.3206	20.6634	0.99662	0.0:0.0:1.0:0.0	.	64;64	Q99460;Q99460-2	PSMD1_HUMAN;.	T	64	ENSP00000309474:A64T;ENSP00000362738:A64T;ENSP00000386932:A64T	ENSP00000309474:A64T	A	+	1	0	PSMD1	231635519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCA		0.418	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			146	438	0	0	0	1	0	146	438				
SMARCC2	6601	broad.mit.edu	37	12	56558134	56558134	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558134A>G	ENST00000267064.4	-	27	3607	c.3521T>C	c.(3520-3522)gTg>gCg	p.V1174A	SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1112A|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1174	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGCTGCCACAATGGCAGG	0.657																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3334-3336)gTg>gCg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							38.0	41.0	40.0					12																	56558134		2195	4280	6475	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558134A>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3521T>C	12.37:g.56558134A>G	ENSP00000267064:p.Val1174Ala					SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1174A	p.V1112A	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		29	3440	-			1079			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3335T>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294410	0.60086	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.56941	1.2;0.43;0.44	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.55242	0.1908	N	0.14661	0.345	0.32803	D	0.500392	P;P;P	0.52577	0.954;0.924;0.924	D;P;P	0.65140	0.932;0.857;0.857	T	0.68217	-0.5467	10	0.87932	D	0	-14.2644	14.4903	0.67647	1.0:0.0:0.0:0.0	.	1112;1116;1174	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	A	1112;1205;1174	ENSP00000377591:V1112A;ENSP00000449396:V1205A;ENSP00000267064:V1174A	ENSP00000267064:V1174A	V	-	2	0	SMARCC2	54844401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.239000	0.58694	2.132000	0.65825	0.460000	0.39030	GTG		0.657	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			109	382	0	0	0	1	0	109	382				
COL16A1	1307	broad.mit.edu	37	1	32133784	32133784	+	Silent	SNP	C	C	A	rs375549047	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32133784C>A	ENST00000373672.3	-	51	3801	c.3285G>T	c.(3283-3285)acG>acT	p.T1095T	COL16A1_ENST00000271069.6_Silent_p.T1095T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1095	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGGGGCCCGTGGCACCTG	0.622																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3283-3285)acG>acT		collagen, type XVI, alpha 1							56.0	64.0	61.0					1																	32133784		1883	4109	5992	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32133784C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3285G>T	1.37:g.32133784C>A						COL16A1_ENST00000271069.6_Silent_p.T1095T	p.T1095T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	51	3801	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1095			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.3285G>T	CCDS41297.1																																																																																				0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		27	254	1	0	0.000117367	1	0.000119338	27	254				
HDAC9	9734	broad.mit.edu	37	7	18687510	18687510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18687510A>G	ENST00000432645.2	+	9	1129	c.1129A>G	c.(1129-1131)Agc>Ggc	p.S377G	HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G|HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G|HDAC9_ENST00000406451.4_Missense_Mutation_p.S377G|HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	377					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCATCTTCCAGCCACCCTCA	0.502																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1129-1131)Agc>Ggc		histone deacetylase 9	Valproic Acid(DB00313)						39.0	41.0	40.0					7																	18687510		2066	4215	6281	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18687510A>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1129A>G	7.37:g.18687510A>G	ENSP00000410337:p.Ser377Gly					HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G|HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G|HDAC9_ENST00000432645.2_Missense_Mutation_p.S377G|HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G	p.S377G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			10	1279	+	all_lung(11;0.187)		377					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1129A>G	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	4.986	0.183198	0.09495	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57907	0.95;0.97;0.38;0.96;0.96;0.37;0.37;0.38;0.96;0.96	5.64	3.28	0.37604	.	0.269718	0.32640	N	0.005823	T	0.30198	0.0757	N	0.16656	0.425	0.23386	N	0.997783	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.001;0.0;0.001;0.0;0.002;0.001;0.0;0.0;0.001;0.0;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.001;0.0;0.002;0.0;0.002;0.001;0.0;0.0;0.001;0.001;0.001	T	0.11966	-1.0566	10	0.20519	T	0.43	-15.7169	6.3135	0.21178	0.7234:0.1346:0.142:0.0	.	300;349;377;364;375;377;380;336;380;377;349;377;377;355	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	G	375;378;377;377;333;364;336;377;380;349;300;377	ENSP00000401669:S375G;ENSP00000384382:S377G;ENSP00000384657:S377G;ENSP00000395655:S333G;ENSP00000384017:S364G;ENSP00000383912:S336G;ENSP00000410337:S377G;ENSP00000408617:S380G;ENSP00000388568:S349G;ENSP00000430036:S300G	ENSP00000262069:S378G	S	+	1	0	HDAC9	18654035	0.128000	0.22383	0.970000	0.41538	0.081000	0.17604	0.574000	0.23714	0.963000	0.38082	0.477000	0.44152	AGC		0.502	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			16	90	0	0	0	1	0	16	90				
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.S72S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"""Mis, O"""		DLBCL																																	ENST00000006750.3				Dom	yes		17	17q23	974	"""Mis, O"""	"""CD79b molecule, immunoglobulin-associated beta"""			L			DLBCL		1	Substitution - coding silent(1)	p.S71S(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(211-213)tcC>tcT		CD79b molecule, immunoglobulin-associated beta							96.0	83.0	88.0					17																	62007651		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007651G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	17.37:g.62007651G>A						CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	p.S71S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN			3	305	-			71			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.213C>T	CCDS11655.1																																																																																				0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			34	200	0	0	0	1	0	34	200				
OPLAH	26873	broad.mit.edu	37	8	145114814	145114814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114814G>T	ENST00000426825.1	-	2	203	c.122C>A	c.(121-123)gCc>gAc	p.A41D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	41					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCATAGTTGGCAGGGTCCTC	0.657																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(121-123)gCc>gAc		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						38.0	44.0	42.0					8																	145114814		1959	4125	6084	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145114814G>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.122C>A	8.37:g.145114814G>T	ENSP00000475943:p.Ala41Asp					OPLAH_ENST00000534424.1_5'UTR	p.A41D	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	203	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		41					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.122C>A		.	.	.	.	.	.	.	.	.	.	G	10.10	1.257038	0.22965	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	5.24	0.73138	Hydantoinaseoxoprolinase, N-terminal (1);	0.110427	0.64402	D	0.000008	T	0.60805	0.2297	.	.	.	0.40538	D	0.980995	P	0.38473	0.633	P	0.49853	0.624	T	0.57476	-0.7805	7	0.15952	T	0.53	.	16.3018	0.82820	0.0:0.0:1.0:0.0	.	41	O14841	OPLA_HUMAN	D	41	.	ENSP00000412071:A41D	A	-	2	0	OPLAH	145186802	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.875000	0.69660	2.450000	0.82876	0.462000	0.41574	GCC		0.657	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		52	254	1	0	3.07002e-29	1	3.58444e-29	52	254				
PPL	5493	broad.mit.edu	37	16	4945601	4945601	+	Silent	SNP	C	C	T	rs372300152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4945601C>T	ENST00000345988.2	-	10	1178	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	PPL_ENST00000590782.2_Silent_p.E361E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	363					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCACATCCAGCTCCCGCAGCA	0.657																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1087-1089)gaG>gaA		periplakin		C		1,4393		0,1,2196	81.0	65.0	71.0		1089	1.3	1.0	16		71	0,8600		0,0,4300	no	coding-synonymous	PPL	NM_002705.4		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		363/1757	4945601	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945601C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1089G>A	16.37:g.4945601C>T						PPL_ENST00000590782.2_Silent_p.E361E	p.E363E	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			10	1178	-			363					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.1089G>A	CCDS10526.1																																																																																				0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		15	341	0	0	0	1	0	15	341				
GHITM	27069	broad.mit.edu	37	10	85901277	85901277	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85901277G>A	ENST00000372134.3	+	2	214	c.21G>A	c.(19-21)gtG>gtA	p.V7V	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	7					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CAAGGCTGGTGTGTCTCCGGA	0.468																																						ENST00000372134.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(19-21)gtG>gtA		growth hormone inducible transmembrane protein							91.0	90.0	90.0					10																	85901277		1913	4133	6046	SO:0001819	synonymous_variant	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85901277G>A	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.21G>A	10.37:g.85901277G>A							p.V7V	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			2	214	+			7					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	ENST00000372134.3	37	c.21G>A	CCDS41542.1																																																																																				0.468	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		14	418	0	0	0	1	0	14	418				
ARFGEF1	10565	broad.mit.edu	37	8	68113742	68113742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68113742G>A	ENST00000262215.3	-	37	5616	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1743					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCACTAACGCGGCTCTCATCC	0.547																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(5227-5229)Cgc>Tgc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							82.0	74.0	77.0					8																	68113742		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68113742G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5227C>T	8.37:g.68113742G>A	ENSP00000262215:p.Arg1743Cys					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C	p.R1743C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		37	5616	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1743					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.5227C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475915	0.84640	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.5;0.999	D;P;B;P	0.63488	0.915;0.776;0.102;0.841	T	0.70876	-0.4753	10	0.87932	D	0	.	15.057	0.71921	0.0:0.0:0.8524:0.1476	.	1743;1221;567;1197	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	C	1197;1743;74;581	ENSP00000428429:R1197C;ENSP00000262215:R1743C;ENSP00000429560:R74C;ENSP00000430891:R581C	ENSP00000262215:R1743C	R	-	1	0	ARFGEF1	68276296	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	4.568000	0.60857	1.372000	0.46190	0.650000	0.86243	CGC		0.547	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		13	300	0	0	0	1	0	13	300				
TRIML2	205860	broad.mit.edu	37	4	189012679	189012679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189012679C>T	ENST00000512729.1	-	7	1386	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	338	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGGACATCTCGGTCACATTG	0.493																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(1012-1014)Gag>Aag		tripartite motif family-like 2							158.0	166.0	163.0					4																	189012679		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012679C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1012G>A	4.37:g.189012679C>T	ENSP00000422581:p.Glu338Lys					TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	p.E338K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1386	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	338			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.1012G>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519012	0.13005	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.61040	0.14;0.14	5.85	-0.853	0.10709	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.063480	0.07343	N	0.881033	T	0.30759	0.0775	N	0.10972	0.075	0.09310	N	1	B;P	0.34724	0.268;0.465	B;B	0.21151	0.033;0.033	T	0.10917	-1.0609	10	0.39692	T	0.17	.	7.1236	0.25458	0.0:0.5251:0.232:0.2429	.	363;338	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	K	338;363	ENSP00000422581:E338K;ENSP00000317498:E363K	ENSP00000317498:E363K	E	-	1	0	TRIML2	189249673	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.750000	0.04808	-0.136000	0.11475	-0.176000	0.13171	GAG		0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		120	452	0	0	0	1	0	120	452				
KCNS2	3788	broad.mit.edu	37	8	99440776	99440776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99440776G>A	ENST00000287042.4	+	2	919	c.569G>A	c.(568-570)aGc>aAc	p.S190N	KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	190					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGGTCTTCAGCATCCTGTCC	0.617																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(568-570)aGc>aAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							62.0	60.0	61.0					8																	99440776		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440776G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.569G>A	8.37:g.99440776G>A	ENSP00000287042:p.Ser190Asn					KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	p.S190N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	919	+	Breast(36;2.4e-06)		190					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.569G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300239	0.60195	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97303	-4.33;-4.33	5.79	5.79	0.91817	.	0.041854	0.85682	D	0.000000	D	0.95500	0.8538	M	0.64170	1.965	0.39189	D	0.962921	B	0.33694	0.421	B	0.29524	0.103	D	0.95547	0.8617	10	0.87932	D	0	.	15.5109	0.75782	0.0:0.1377:0.8623:0.0	.	190	Q9ULS6	KCNS2_HUMAN	N	190	ENSP00000287042:S190N;ENSP00000430712:S190N	ENSP00000287042:S190N	S	+	2	0	KCNS2	99509952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.735000	0.93741	0.563000	0.77884	AGC		0.617	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		63	291	0	0	0	1	0	63	291				
DIRAS1	148252	broad.mit.edu	37	19	2717685	2717685	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717685G>A	ENST00000323469.4	-	2	303	c.120C>T	c.(118-120)atC>atT	p.I40I	DIRAS1_ENST00000585334.1_Silent_p.I40I	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	40					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGTCCTCGATGGTGGGGA	0.657																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(118-120)atC>atT		DIRAS family, GTP-binding RAS-like 1							97.0	76.0	83.0					19																	2717685		2203	4299	6502	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717685G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.120C>T	19.37:g.2717685G>A						DIRAS1_ENST00000585334.1_Silent_p.I40I	p.I40I	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	303	-			40						Silent	SNP	ENST00000323469.4	37	c.120C>T	CCDS12092.1																																																																																				0.657	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			76	327	0	0	0	1	0	76	327				
ADNP2	22850	broad.mit.edu	37	18	77896614	77896614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896614G>T	ENST00000262198.4	+	4	3773	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1106					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAATCACAAGCCTTCTGTAC	0.303																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3316-3318)aaG>aaT		ADNP homeobox 2							30.0	33.0	32.0					18																	77896614		2176	4278	6454	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896614G>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3318G>T	18.37:g.77896614G>T	ENSP00000262198:p.Lys1106Asn						p.K1106N	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3773	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1106					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.3318G>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447950	0.43429	.	.	ENSG00000101544	ENST00000262198	D	0.91686	-2.89	4.43	0.386	0.16254	Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.92522	0.7625	L	0.55743	1.74	0.34969	D	0.75298	D	0.67145	0.996	D	0.63793	0.918	D	0.91527	0.5239	9	.	.	.	-26.3007	9.0574	0.36414	0.5522:0.0:0.4478:0.0	.	1106	Q6IQ32	ADNP2_HUMAN	N	1106	ENSP00000262198:K1106N	.	K	+	3	2	ADNP2	75997605	0.731000	0.28111	0.999000	0.59377	0.978000	0.69477	-0.344000	0.07780	0.121000	0.18284	0.561000	0.74099	AAG		0.303	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		33	128	1	0	3.99451e-17	1	4.40333e-17	33	128				
SASH1	23328	broad.mit.edu	37	6	148865211	148865211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865211C>T	ENST00000367467.3	+	18	3080	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	869					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACCTGAAGTGCCACAGAAGAC	0.562																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2605-2607)Cca>Tca		SAM and SH3 domain containing 1							115.0	127.0	123.0					6																	148865211		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865211C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2605C>T	6.37:g.148865211C>T	ENSP00000356437:p.Pro869Ser						p.P869S	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3080	+		Ovarian(120;0.0169)	869					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2605C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632371	0.29068	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37752	1.18	5.36	5.36	0.76844	.	0.523656	0.21307	N	0.076714	T	0.18800	0.0451	L	0.51422	1.61	0.35065	D	0.761911	P;B	0.35077	0.483;0.278	B;B	0.27887	0.084;0.057	T	0.15636	-1.0430	10	0.59425	D	0.04	-14.3921	13.0516	0.58958	0.0:0.7884:0.2116:0.0	.	850;869	Q6P4R9;O94885	.;SASH1_HUMAN	S	869;630;279	ENSP00000356437:P869S	ENSP00000356437:P869S	P	+	1	0	SASH1	148906904	0.994000	0.37717	1.000000	0.80357	0.106000	0.19336	0.790000	0.26900	2.511000	0.84671	0.650000	0.86243	CCA		0.562	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		236	1042	0	0	0	1	0	236	1042				
BACE2	25825	broad.mit.edu	37	21	42647386	42647386	+	Silent	SNP	C	C	T	rs537658410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42647386C>T	ENST00000330333.6	+	9	1855	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.5_Silent_p.S414S|BACE2_ENST00000328735.6_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	464					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGTCTTTGAGCGAGCCCATTT	0.547																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1390-1392)agC>agT		beta-site APP-cleaving enzyme 2							156.0	134.0	142.0					21																	42647386		2203	4300	6503	SO:0001819	synonymous_variant	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42647386C>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1392C>T	21.37:g.42647386C>T						BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.4_Silent_p.S414S	p.S464S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			9	1855	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	464					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	37	c.1392C>T	CCDS13668.1																																																																																				0.547	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			6	308	0	0	0	1	0	6	308				
MAGIX	79917	broad.mit.edu	37	X	49021166	49021166	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49021166G>T	ENST00000412696.2	+	4	279				MAGIX_ENST00000376338.3_Missense_Mutation_p.R23M|MAGIX_ENST00000498742.1_Intron|MAGIX_ENST00000376339.1_Missense_Mutation_p.R23M|MAGIX_ENST00000425661.2_Intron	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked																		TCCTGCCTCAGGGCAAACTAT	0.542																																						ENST00000376338.3																			0											c.(67-69)aGg>aTg		MAGI family member, X-linked							106.0	106.0	106.0					X																	49021166		2080	4179	6259	SO:0001627	intron_variant	79917							g.chrX:49021166G>T	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.280-35G>T	X.37:g.49021166G>T						MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000412696.2_Intron|MAGIX_ENST00000498742.1_Intron|MAGIX_ENST00000376339.1_Missense_Mutation_p.R23M	p.R23M			Q9H6Y5	MAGIX_HUMAN			2	147	+			0					A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.68G>T	CCDS48106.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.419441	0.25552	.	.	ENSG00000017621	ENST00000376339;ENST00000376338	T;T	0.27256	1.86;1.68	3.3	0.102	0.14522	.	1.792090	0.05018	N	0.472250	T	0.20618	0.0496	.	.	.	0.09310	N	1	P	0.49447	0.924	B	0.40982	0.345	T	0.25222	-1.0138	9	0.56958	D	0.05	.	6.0017	0.19525	0.3905:0.0:0.6095:0.0	.	23	Q9H6Y5-2	.	M	23	ENSP00000365517:R23M;ENSP00000365516:R23M	ENSP00000365516:R23M	R	+	2	0	MAGIX	48908110	0.008000	0.16893	0.000000	0.03702	0.110000	0.19582	0.725000	0.25970	-0.073000	0.12842	0.464000	0.42555	AGG		0.542	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		14	679	1	0	4.3838e-07	1	4.54049e-07	14	679				
ENAM	10117	broad.mit.edu	37	4	71510041	71510041	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510041A>C	ENST00000396073.3	+	9	3179	c.2898A>C	c.(2896-2898)caA>caC	p.Q966H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	966					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACTGGGCCAAAAGGAAATTA	0.433																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2896-2898)caA>caC		enamelin							87.0	87.0	87.0					4																	71510041		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510041A>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2898A>C	4.37:g.71510041A>C	ENSP00000379383:p.Gln966His					ENAM_ENST00000472903.1_Intron	p.Q966H	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3179	+			966					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2898A>C	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	7.698	0.692445	0.15039	.	.	ENSG00000132464	ENST00000396073	T	0.38240	1.15	5.97	-2.09	0.07232	.	0.520767	0.17726	N	0.164066	T	0.38241	0.1033	M	0.84683	2.71	0.09310	N	1	P	0.43094	0.799	P	0.44946	0.465	T	0.36089	-0.9762	10	0.87932	D	0	-1.4631	1.4747	0.02423	0.3903:0.1475:0.319:0.1432	.	966	Q9NRM1	ENAM_HUMAN	H	966	ENSP00000379383:Q966H	ENSP00000379383:Q966H	Q	+	3	2	ENAM	71728905	0.000000	0.05858	0.016000	0.15963	0.025000	0.11179	-0.121000	0.10643	-0.095000	0.12351	-0.256000	0.11100	CAA		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		95	311	0	0	0	1	0	95	311				
SLC6A20	54716	broad.mit.edu	37	3	45807055	45807055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45807055C>A	ENST00000358525.4	-	8	1392	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	426					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGGCAGGTGGCTGGAGATGAT	0.632																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1276-1278)aGc>aTc		solute carrier family 6 (proline IMINO transporter), member 20							68.0	58.0	62.0					3																	45807055		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45807055C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1277G>T	3.37:g.45807055C>A	ENSP00000346298:p.Ser426Ile					SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I|SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I	p.S426I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	8	1392	-			426					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.1277G>T	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365948	0.41902	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.73897	-0.79;-0.79;-0.79	5.71	3.83	0.44106	.	0.394675	0.27604	N	0.018634	T	0.51024	0.1650	N	0.04297	-0.235	0.28033	N	0.934041	P;P	0.36144	0.483;0.539	B;B	0.40410	0.144;0.328	T	0.45131	-0.9282	10	0.23302	T	0.38	.	6.5329	0.22336	0.0:0.5856:0.2461:0.1682	.	389;426	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	I	389;426;426	ENSP00000296133:S389I;ENSP00000346298:S426I;ENSP00000404310:S426I	ENSP00000296133:S389I	S	-	2	0	SLC6A20	45782059	0.139000	0.22563	0.709000	0.30452	0.970000	0.65996	1.277000	0.33167	1.412000	0.46977	0.655000	0.94253	AGC		0.632	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		27	110	1	0	1.2476e-16	1	1.37204e-16	27	110				
BPHL	670	broad.mit.edu	37	6	3129401	3129401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3129401C>T	ENST00000380379.5	+	4	550	c.501C>T	c.(499-501)taC>taT	p.Y167Y	BPHL_ENST00000380375.3_Silent_p.Y150Y|BPHL_ENST00000434640.1_Silent_p.Y150Y|BPHL_ENST00000380368.2_Silent_p.Y150Y	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	167					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCAACGCCTACGTCACTGACG	0.537																																						ENST00000380368.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13						c.(448-450)taC>taT		biphenyl hydrolase-like (serine hydrolase)							115.0	89.0	98.0					6																	3129401		2203	4300	6503	SO:0001819	synonymous_variant	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3129401C>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.501C>T	6.37:g.3129401C>T						BPHL_ENST00000380375.3_Silent_p.Y150Y|BPHL_ENST00000434640.1_Silent_p.Y150Y|BPHL_ENST00000380379.5_Silent_p.Y167Y	p.Y150Y			Q86WA6	BPHL_HUMAN			5	1094	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	167					Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	37	c.450C>T	CCDS4483.2																																																																																				0.537	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			39	198	0	0	0	1	0	39	198				
HEATR1	55127	broad.mit.edu	37	1	236740213	236740213	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236740213A>G	ENST00000366582.3	-	21	2906	c.2792T>C	c.(2791-2793)gTa>gCa	p.V931A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	931					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTTTTACGGGGCTTCC	0.373																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2791-2793)gTa>gCa		HEAT repeat containing 1							64.0	69.0	67.0					1																	236740213		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236740213A>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2792T>C	1.37:g.236740213A>G	ENSP00000355541:p.Val931Ala					HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	p.V931A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		21	2906	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	931					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2792T>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	8.980	0.975030	0.18736	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65549	-0.16;-0.13	5.36	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (2);	0.567431	0.18886	N	0.128438	T	0.48003	0.1476	L	0.46157	1.445	0.50813	D	0.999894	B;P	0.45768	0.163;0.866	B;B	0.33254	0.037;0.16	T	0.38972	-0.9636	10	0.28530	T	0.3	.	10.9493	0.47319	0.9265:0.0:0.0735:0.0	.	931;931	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	A	931	ENSP00000355541:V931A;ENSP00000355540:V931A	ENSP00000355540:V931A	V	-	2	0	HEATR1	234806836	0.825000	0.29262	0.015000	0.15790	0.733000	0.41908	5.962000	0.70364	0.891000	0.36235	0.379000	0.24179	GTA		0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		25	486	0	0	0	1	0	25	486				
ASB5	140458	broad.mit.edu	37	4	177138127	177138127	+	Missense_Mutation	SNP	G	G	A	rs371144681		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177138127G>A	ENST00000296525.3	-	6	817	c.704C>T	c.(703-705)aCt>aTt	p.T235I	ASB5_ENST00000512254.1_Missense_Mutation_p.T182I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	235					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGTAATGGAGTATCCCAATA	0.388																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(703-705)aCt>aTt		ankyrin repeat and SOCS box containing 5		G	ILE/THR	0,4406		0,0,2203	194.0	186.0	189.0		704	4.6	1.0	4		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB5	NM_080874.3	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	235/330	177138127	1,13005	2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177138127G>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.704C>T	4.37:g.177138127G>A	ENSP00000296525:p.Thr235Ile					ASB5_ENST00000512254.1_Missense_Mutation_p.T182I	p.T235I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	6	817	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	235					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.704C>T	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476462	0.84640	0.0	1.16E-4	ENSG00000164122	ENST00000296525;ENST00000512254	T;D	0.85484	-0.24;-1.99	5.45	4.55	0.56014	Ankyrin repeat-containing domain (4);	0.217812	0.47852	D	0.000203	D	0.92364	0.7577	M	0.87328	2.875	0.58432	D	0.999997	D;D	0.64830	0.989;0.994	P;D	0.63033	0.832;0.91	D	0.93496	0.6840	10	0.87932	D	0	-28.1797	16.0115	0.80406	0.0:0.1344:0.8656:0.0	.	235;182	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	I	235;182	ENSP00000296525:T235I;ENSP00000422877:T182I	ENSP00000296525:T235I	T	-	2	0	ASB5	177375121	1.000000	0.71417	0.966000	0.40874	0.837000	0.47467	7.124000	0.77185	2.712000	0.92718	0.591000	0.81541	ACT		0.388	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			149	640	0	0	0	1	0	149	640				
ATAD5	79915	broad.mit.edu	37	17	29196652	29196652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196652G>T	ENST00000321990.4	+	14	3973	c.3595G>T	c.(3595-3597)Ggc>Tgc	p.G1199C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1199					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTACTACATAGGCAAGTCACC	0.308																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3595-3597)Ggc>Tgc		ATPase family, AAA domain containing 5							68.0	70.0	70.0					17																	29196652		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196652G>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3595G>T	17.37:g.29196652G>T	ENSP00000313171:p.Gly1199Cys						p.G1199C	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			14	3973	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1199					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3595G>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548088	0.27652	.	.	ENSG00000176208	ENST00000321990	D	0.95272	-3.66	5.49	4.52	0.55395	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.172820	0.50627	D	0.000112	D	0.93831	0.8027	L	0.29908	0.895	0.37494	D	0.916487	D;D	0.76494	0.999;0.999	D;D	0.71414	0.934;0.973	D	0.93903	0.7190	10	0.72032	D	0.01	.	6.863	0.24077	0.2967:0.0:0.7033:0.0	.	1199;1199	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1199	ENSP00000313171:G1199C	ENSP00000313171:G1199C	G	+	1	0	ATAD5	26220778	0.946000	0.32159	0.940000	0.37924	0.962000	0.63368	1.684000	0.37649	1.317000	0.45149	0.561000	0.74099	GGC		0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		62	274	1	0	1.48873e-21	1	1.67879e-21	62	274				
ACSS3	79611	broad.mit.edu	37	12	81472066	81472066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81472066C>T	ENST00000548058.1	+	1	1077	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	56						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCACTGTCCTCCGGCAGTGGC	0.711																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(166-168)tCc>tTc		acyl-CoA synthetase short-chain family member 3							19.0	19.0	19.0					12																	81472066		2067	4099	6166	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472066C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.167C>T	12.37:g.81472066C>T	ENSP00000449535:p.Ser56Phe					ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F	p.S56F			Q9H6R3	ACSS3_HUMAN			1	1077	+			56					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.167C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097479	0.37048	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.27402	1.67;1.67	4.76	4.76	0.60689	.	0.685773	0.12714	N	0.445308	T	0.25344	0.0616	N	0.08118	0	0.80722	D	1	P	0.36789	0.57	P	0.48114	0.567	T	0.03240	-1.1057	10	0.09590	T	0.72	-7.6315	14.7846	0.69793	0.0:1.0:0.0:0.0	.	56	Q9H6R3	ACSS3_HUMAN	F	56	ENSP00000449535:S56F;ENSP00000261206:S56F	ENSP00000261206:S56F	S	+	2	0	ACSS3	79996197	0.082000	0.21442	0.039000	0.18376	0.020000	0.10135	3.245000	0.51407	2.470000	0.83445	0.655000	0.94253	TCC		0.711	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		39	188	0	0	0	1	0	39	188				
DPF2	5977	broad.mit.edu	37	11	65113775	65113775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113775G>A	ENST00000528416.1	+	9	1095	c.962G>A	c.(961-963)cGc>cAc	p.R321H	DPF2_ENST00000252268.4_Missense_Mutation_p.R335H|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	321					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AAGACATACCGCTGGCAGTGC	0.562																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(961-963)cGc>cAc		D4, zinc and double PHD fingers family 2							153.0	114.0	128.0					11																	65113775		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113775G>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.962G>A	11.37:g.65113775G>A	ENSP00000436901:p.Arg321His					DPF2_ENST00000252268.4_Missense_Mutation_p.R335H|DPF2_ENST00000415073.2_Intron	p.R321H	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			9	1095	+			321					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.962G>A	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825531	0.96996	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.87412	-2.25;-2.25	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (2);	0.000000	0.38381	N	0.001707	D	0.92805	0.7712	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.63033	0.91	D	0.93216	0.6604	10	0.66056	D	0.02	-20.6648	17.1512	0.86778	0.0:0.0:1.0:0.0	.	321	Q92785	REQU_HUMAN	H	321;335	ENSP00000436901:R321H;ENSP00000252268:R335H	ENSP00000252268:R335H	R	+	2	0	DPF2	64870351	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.607000	0.74163	2.667000	0.90743	0.561000	0.74099	CGC		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		49	209	0	0	0	1	0	49	209				
REXO2	25996	broad.mit.edu	37	11	114310303	114310303	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114310303A>G	ENST00000265881.5	+	1	196	c.53A>G	c.(52-54)cAc>cGc	p.H18R	REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000539275.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	18					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GGTGGGAGTCACGGACGGTTC	0.711											OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265881.5																			0				cervix(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(52-54)cAc>cGc		RNA exonuclease 2							31.0	33.0	33.0					11																	114310303		2199	4294	6493	SO:0001583	missense	25996				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding	g.chr11:114310303A>G	AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.53A>G	11.37:g.114310303A>G	ENSP00000265881:p.His18Arg		OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1457	RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|REXO2_ENST00000539275.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R	p.H18R	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)	1	196	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	18					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000265881.5	37	c.53A>G	CCDS8371.1	.	.	.	.	.	.	.	.	.	.	a	3.772	-0.047394	0.07407	.	.	ENSG00000076043	ENST00000265881;ENST00000544196;ENST00000539754;ENST00000539275	.	.	.	5.27	2.42	0.29668	.	1.206880	0.05657	N	0.586217	T	0.28101	0.0693	N	0.08118	0	0.58432	D	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39921	-0.9590	9	0.05351	T	0.99	2.6504	6.1819	0.20476	0.2333:0.1352:0.6315:0.0	.	18;18	Q9BTR4;Q9Y3B8	.;ORN_HUMAN	R	18	.	ENSP00000265881:H18R	H	+	2	0	REXO2	113815513	0.025000	0.19082	0.737000	0.30932	0.771000	0.43674	0.592000	0.23984	0.235000	0.21160	-0.147000	0.13772	CAC		0.711	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	NM_015523		13	108	0	0	0	1	0	13	108				
BCL9L	283149	broad.mit.edu	37	11	118769762	118769762	+	Missense_Mutation	SNP	G	G	A	rs566574462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118769762G>A	ENST00000334801.3	-	8	4826	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1288	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCGCCCATGCGCCCAGCCATG	0.692																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3862-3864)Cgc>Tgc		B-cell CLL/lymphoma 9-like							22.0	22.0	22.0					11																	118769762		2200	4293	6493	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769762G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3862C>T	11.37:g.118769762G>A	ENSP00000335320:p.Arg1288Cys					BCL9L_ENST00000526143.1_5'UTR	p.R1288C	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	4826	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1288			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3862C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566358	0.45694	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.64803	-0.12	3.08	3.08	0.35506	.	0.179734	0.26159	N	0.025993	T	0.48840	0.1522	N	0.08118	0	0.58432	D	0.999997	D;B	0.65815	0.995;0.291	P;B	0.50754	0.649;0.022	T	0.55554	-0.8123	10	0.48119	T	0.1	-8.6842	12.4142	0.55483	0.0:0.0:1.0:0.0	.	1283;1288	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	C	1288;1251;534;1288;1243	ENSP00000335320:R1288C	ENSP00000335320:R1288C	R	-	1	0	BCL9L	118274972	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.182000	0.50910	2.016000	0.59253	0.305000	0.20034	CGC		0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		26	97	0	0	0	1	0	26	97				
PLXNA2	5362	broad.mit.edu	37	1	208390732	208390732	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208390732T>A	ENST00000367033.3	-	2	1293	c.536A>T	c.(535-537)gAt>gTt	p.D179V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	179	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGCTTGCCATCCTCACCCTC	0.592																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(535-537)gAt>gTt		plexin A2							145.0	146.0	146.0					1																	208390732		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390732T>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.536A>T	1.37:g.208390732T>A	ENSP00000356000:p.Asp179Val						p.D179V	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1293	-			179			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.536A>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	7.667	0.686145	0.14973	.	.	ENSG00000076356	ENST00000367033	T	0.04234	3.67	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	.	.	.	.	T	0.08802	0.0218	L	0.59436	1.845	0.80722	D	1	P;B	0.40282	0.711;0.209	B;B	0.39379	0.298;0.109	T	0.03662	-1.1015	9	0.54805	T	0.06	.	15.9771	0.80076	0.0:0.0:0.0:1.0	.	233;179	O75051-2;O75051	.;PLXA2_HUMAN	V	179	ENSP00000356000:D179V	ENSP00000356000:D179V	D	-	2	0	PLXNA2	206457355	1.000000	0.71417	0.532000	0.27989	0.096000	0.18686	7.751000	0.85126	2.178000	0.69098	0.460000	0.39030	GAT		0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		354	746	0	0	0	1	0	354	746				
MUC2	4583	broad.mit.edu	37	11	1080508	1080508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1080508G>T	ENST00000441003.2	+	9	1177	c.1150G>T	c.(1150-1152)Gac>Tac	p.D384Y	MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	384					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGTGCAAAGACCTGCCCTG	0.667																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1150-1152)Gac>Tac		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						19.0	24.0	22.0					11																	1080508		2053	4179	6232	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080508G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1150G>T	11.37:g.1080508G>T	ENSP00000415183:p.Asp384Tyr					MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	p.D384Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1177	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	384					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1150G>T		.	.	.	.	.	.	.	.	.	.	G	13.38	2.221035	0.39201	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.65178	-0.14;-0.14	4.25	4.25	0.50352	.	0.471651	0.19231	U	0.119405	T	0.73976	0.3656	M	0.80183	2.485	0.23611	N	0.997291	P	0.38800	0.648	P	0.47786	0.557	T	0.70285	-0.4914	10	0.87932	D	0	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	384	E7EUV1	.	Y	384	ENSP00000415183:D384Y;ENSP00000351956:D384Y	ENSP00000351956:D384Y	D	+	1	0	MUC2	1070508	0.992000	0.36948	0.858000	0.33744	0.944000	0.59088	4.831000	0.62752	2.219000	0.72066	0.491000	0.48974	GAC		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		9	62	1	0	0.00621372	1	0.0062537	9	62				
B4GALNT3	283358	broad.mit.edu	37	12	665887	665887	+	Silent	SNP	C	C	T	rs139340276	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:665887C>T	ENST00000266383.5	+	15	2248	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	745					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGAGGTCGAGGCCCGGA	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18024	0.0		0.0	False		,,,				2504	0.0					ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2233-2235)gtC>gtT		beta-1,4-N-acetyl-galactosaminyl transferase 3		C		4,4402	8.1+/-20.4	0,4,2199	48.0	46.0	47.0		2235	-11.0	0.0	12	dbSNP_134	47	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	B4GALNT3	NM_173593.3		0,7,6496	TT,TC,CC		0.0349,0.0908,0.0538		745/999	665887	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:665887C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2235C>T	12.37:g.665887C>T							p.V745V	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		15	2248	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		745					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2235C>T	CCDS8504.1																																																																																				0.637	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		44	148	0	0	0	1	0	44	148				
IPO4	79711	broad.mit.edu	37	14	24651000	24651000	+	Nonsense_Mutation	SNP	G	G	A	rs535037141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24651000G>A	ENST00000354464.6	-	27	3033	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	953					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGATCATGTCGCTCCCGCGCC	0.612																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2857-2859)Cga>Tga		importin 4							70.0	78.0	75.0					14																	24651000		2043	4196	6239	SO:0001587	stop_gained	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651000G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2857C>T	14.37:g.24651000G>A	ENSP00000346453:p.Arg953*					RP11-468E2.2_ENST00000561419.1_3'UTR	p.R953*	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	27	3033	-			953					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	ENST00000354464.6	37	c.2857C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451090	0.84209	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.97	5.08	0.68730	.	0.224065	0.40908	D	0.000990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.6638	15.4355	0.75143	0.0:0.0:0.8595:0.1405	.	.	.	.	X	953;629	.	ENSP00000346453:R953X	R	-	1	2	IPO4	23720840	0.999000	0.42202	1.000000	0.80357	0.929000	0.56500	1.486000	0.35530	0.873000	0.35799	-0.808000	0.03180	CGA		0.612	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		60	242	0	0	0	1	0	60	242				
SGK223	157285	broad.mit.edu	37	8	8197103	8197103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8197103G>A	ENST00000520004.1	-	4	2469	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	SGK223_ENST00000330777.4_Silent_p.S735S			Q86YV5	SG223_HUMAN		737							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGAGCCCTGGCTCACTTTTT	0.502																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(2203-2205)agC>agT									79.0	87.0	85.0					8																	8197103		1965	4146	6111	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8197103G>A																												ENST00000520004.1:c.2205C>T	8.37:g.8197103G>A						SGK223_ENST00000330777.4_Silent_p.S735S	p.S735S			Q86YV5	SG223_HUMAN			4	2469	-			735					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.2205C>T	CCDS43706.1																																																																																				0.502	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			15	407	0	0	0	1	0	15	407				
RBM19	9904	broad.mit.edu	37	12	114282486	114282486	+	Silent	SNP	G	G	A	rs368224110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114282486G>A	ENST00000545145.2	-	23	2850	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	RBM19_ENST00000261741.5_Silent_p.A924A|RBM19_ENST00000392561.3_Silent_p.A924A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	924					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAAGTGAGCGGCCGTCTTCC	0.652																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2770-2772)gcC>gcT		RNA binding motif protein 19		A	,,	0,4406		0,0,2203	35.0	32.0	33.0		2772,2772,2772	-10.2	0.0	12		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	924/961,924/961,924/961	114282486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114282486G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2772C>T	12.37:g.114282486G>A						RBM19_ENST00000392561.3_Silent_p.A924A|RBM19_ENST00000261741.5_Silent_p.A924A	p.A924A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			23	2850	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		924					A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	c.2772C>T	CCDS9172.1																																																																																				0.652	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		44	109	0	0	0	1	0	44	109				
CDAN1	146059	broad.mit.edu	37	15	43027493	43027493	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027493C>A	ENST00000356231.3	-	5	1046	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	341					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGTCGCTGTCCTTGGCAGTCA	0.493																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(1021-1023)aaG>aaT		codanin 1							36.0	36.0	36.0					15																	43027493		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027493C>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1023G>T	15.37:g.43027493C>A	ENSP00000348564:p.Lys341Asn						p.K341N	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	5	1046	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	341					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1023G>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384808	0.25031	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86694	-2.16	5.94	2.65	0.31530	.	0.252628	0.45867	D	0.000321	T	0.80358	0.4608	L	0.29908	0.895	0.33438	D	0.581967	P	0.37276	0.589	B	0.39027	0.288	D	0.83626	0.0142	10	0.51188	T	0.08	-9.1438	11.5676	0.50815	0.0:0.7932:0.0:0.2068	.	341	Q8IWY9	CDAN1_HUMAN	N	341;339	ENSP00000348564:K341N	ENSP00000267892:K339N	K	-	3	2	CDAN1	40814785	0.710000	0.27896	0.810000	0.32431	0.414000	0.31173	0.783000	0.26802	0.874000	0.35823	0.561000	0.74099	AAG		0.493	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		13	70	1	0	2.27111e-07	1	2.35674e-07	13	70				
FBXW7	55294	broad.mit.edu	37	4	153258977	153258977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153258977A>G	ENST00000281708.4	-	5	2067	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	280	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATGAAATGAAGTCTCGTTGA	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(838-840)Ttc>Ctc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							178.0	173.0	175.0					4																	153258977		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153258977A>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.838T>C	4.37:g.153258977A>G	ENSP00000281708:p.Phe280Leu					FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L	p.F280L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			5	2067	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	280			F-box.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.838T>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552008	0.86127	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.63	5.63	0.86233	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.094416	0.85682	D	0.000000	T	0.69700	0.3140	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.69131	-0.5226	10	0.40728	T	0.16	-15.5855	15.8279	0.78727	1.0:0.0:0.0:0.0	.	104;280;162;200	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	280;162;200;104	ENSP00000281708:F280L;ENSP00000296555:F162L;ENSP00000263981:F200L;ENSP00000377528:F104L	ENSP00000263981:F200L	F	-	1	0	FBXW7	153478427	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.268000	0.95675	2.133000	0.65898	0.528000	0.53228	TTC		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			43	227	0	0	0	1	0	43	227				
LRP5	4041	broad.mit.edu	37	11	68181324	68181324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68181324G>A	ENST00000294304.7	+	12	2777	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	891	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTCGTGATGGACATCCTGGT	0.607																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2671-2673)Gac>Aac		low density lipoprotein receptor-related protein 5							87.0	75.0	79.0					11																	68181324		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68181324G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2671G>A	11.37:g.68181324G>A	ENSP00000294304:p.Asp891Asn						p.D891N	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			12	2777	+			891			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.2671G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593856	0.96602	.	.	ENSG00000162337	ENST00000294304	D	0.91351	-2.83	5.02	5.02	0.67125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000115	D	0.96510	0.8861	M	0.92367	3.3	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.97234	0.9886	10	0.72032	D	0.01	.	18.5313	0.90993	0.0:0.0:1.0:0.0	.	891;891	Q9UES7;O75197	.;LRP5_HUMAN	N	891	ENSP00000294304:D891N	ENSP00000294304:D891N	D	+	1	0	LRP5	67937900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.601000	0.87937	0.561000	0.74099	GAC		0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		52	232	0	0	0	1	0	52	232				
DDX60	55601	broad.mit.edu	37	4	169229212	169229212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169229212C>T	ENST00000393743.3	-	4	500	c.209G>A	c.(208-210)cGc>cAc	p.R70H	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	70					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACAAGATAGCGTTCAACCAG	0.338																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(208-210)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							101.0	108.0	106.0					4																	169229212		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169229212C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.209G>A	4.37:g.169229212C>T	ENSP00000377344:p.Arg70His						p.R70H	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	4	500	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	70					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.209G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	3.993	-0.004024	0.07773	.	.	ENSG00000137628	ENST00000393743;ENST00000514995	T	0.20881	2.04	4.87	2.11	0.27256	.	0.916407	0.09361	N	0.812697	T	0.18593	0.0446	L	0.59436	1.845	0.09310	N	1	B	0.25521	0.128	B	0.17098	0.017	T	0.30621	-0.9972	10	0.41790	T	0.15	.	3.359	0.07179	0.1398:0.5734:0.1355:0.1513	.	70	Q8IY21	DDX60_HUMAN	H	70	ENSP00000377344:R70H	ENSP00000377344:R70H	R	-	2	0	DDX60	169465787	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.569000	0.05902	0.314000	0.23086	0.557000	0.71058	CGC		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		68	323	0	0	0	1	0	68	323				
GRIA4	2893	broad.mit.edu	37	11	105797622	105797622	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105797622C>A	ENST00000530497.1	+	12	2003	c.2003C>A	c.(2002-2004)gCc>gAc	p.A668D	GRIA4_ENST00000393127.2_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	668					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ACAGAAATTGCCTATGGAACA	0.378																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2002-2004)gCc>gAc		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						75.0	71.0	72.0					11																	105797622		2202	4298	6500	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105797622C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2003C>A	11.37:g.105797622C>A	ENSP00000435775:p.Ala668Asp					GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000530497.1_Missense_Mutation_p.A668D	p.A668D	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	13	2449	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	668					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2003C>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178614	0.94846	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.67	5.67	0.87782	Ionotropic glutamate receptor (2);	0.072305	0.64402	D	0.000020	T	0.51415	0.1673	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.75484	0.824;0.986	T	0.49826	-0.8898	10	0.59425	D	0.04	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	668;668	P48058;G3V164	GRIA4_HUMAN;.	D	668	ENSP00000282499:A668D;ENSP00000376835:A668D;ENSP00000435775:A668D;ENSP00000432180:A668D	ENSP00000282499:A668D	A	+	2	0	GRIA4	105302832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.836000	0.97738	0.655000	0.94253	GCC		0.378	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			25	265	1	0	7.33532e-06	1	7.53121e-06	25	265				
C16orf70	80262	broad.mit.edu	37	16	67154021	67154021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67154021C>T	ENST00000219139.3	+	2	259	c.71C>T	c.(70-72)cCt>cTt	p.P24L	C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	24										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCAGGAATGCCTCTGGCTCAG	0.458																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(70-72)cCt>cTt		chromosome 16 open reading frame 70							140.0	128.0	132.0					16																	67154021		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67154021C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.71C>T	16.37:g.67154021C>T	ENSP00000219139:p.Pro24Leu					C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L	p.P24L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	2	259	+		Ovarian(137;0.192)	24					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.71C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162170	0.57368	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.81497	2.545	0.80722	D	1	P;B	0.46220	0.874;0.339	B;B	0.43508	0.422;0.306	T	0.73678	-0.3907	9	0.54805	T	0.06	-23.057	17.8263	0.88666	0.0:1.0:0.0:0.0	.	2;24	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	L	24	.	ENSP00000219139:P24L	P	+	2	0	C16orf70	65711522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.971000	0.76105	2.805000	0.96524	0.655000	0.94253	CCT		0.458	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		79	402	0	0	0	1	0	79	402				
SLC7A7	9056	broad.mit.edu	37	14	23282281	23282281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282281C>T	ENST00000397532.3	-	2	852	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000555702.1_Silent_p.E109E|SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	109					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTCCAAAGGCCTCCAGGATAT	0.552																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(325-327)gaG>gaA		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							124.0	126.0	126.0					14																	23282281		2203	4300	6503	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23282281C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.327G>A	14.37:g.23282281C>T						SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000555702.1_Silent_p.E109E|SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000554517.1_Intron	p.E109E			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	2	852	-	all_cancers(95;8.44e-05)		109					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.327G>A	CCDS9574.1																																																																																				0.552	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			138	592	0	0	0	1	0	138	592				
ZNF790	388536	broad.mit.edu	37	19	37309616	37309616	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309616T>A	ENST00000356725.4	-	5	1750	c.1630A>T	c.(1630-1632)Atc>Ttc	p.I544F	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAACCCCAGATAAAAGATTTC	0.393																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1630-1632)Atc>Ttc		zinc finger protein 790							112.0	112.0	112.0					19																	37309616		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309616T>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1630A>T	19.37:g.37309616T>A	ENSP00000349161:p.Ile544Phe					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.I544F	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1750	-	Esophageal squamous(110;0.183)		544						Missense_Mutation	SNP	ENST00000356725.4	37	c.1630A>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	T	3.310	-0.140997	0.06669	.	.	ENSG00000197863	ENST00000356725	T	0.60672	0.17	3.2	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44767	0.1309	N	0.19112	0.55	0.20926	N	0.999826	P	0.50369	0.934	P	0.50314	0.637	T	0.21655	-1.0239	9	0.18276	T	0.48	.	5.7212	0.17988	0.0:0.2363:0.0:0.7637	.	544	Q6PG37	ZN790_HUMAN	F	544	ENSP00000349161:I544F	ENSP00000349161:I544F	I	-	1	0	ZNF790	42001456	0.000000	0.05858	0.270000	0.24601	0.898000	0.52572	-2.284000	0.01154	0.437000	0.26423	0.402000	0.26972	ATC		0.393	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		142	494	0	0	0	1	0	142	494				
MAP1B	4131	broad.mit.edu	37	5	71490172	71490172	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490172G>A	ENST00000296755.7	+	5	1288	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	330					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAATTGCAGAGCTCGAGGAAG	0.473																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(988-990)gaG>gaA		microtubule-associated protein 1B							61.0	56.0	58.0					5																	71490172		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490172G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.990G>A	5.37:g.71490172G>A							p.E330E	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1288	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	330					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.990G>A	CCDS4012.1																																																																																				0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		63	277	0	0	0	1	0	63	277				
HNRNPH1	3187	broad.mit.edu	37	5	179044072	179044072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044072C>T	ENST00000356731.5	-	9	2632	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	366	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ACCGCTTGCTCCTGCTGTAGA	0.363																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(1096-1098)gGa>gAa		heterogeneous nuclear ribonucleoprotein H1 (H)							97.0	95.0	96.0					5																	179044072		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044072C>T	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1097G>A	5.37:g.179044072C>T	ENSP00000349168:p.Gly366Glu					HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E	p.G366E			P31943	HNRH1_HUMAN			9	2632	-			366			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.1097G>A	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.85|13.85	2.359804|2.359804	0.41801|0.41801	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000511300;ENST00000519033	.|T;T;T;T;T;T;T	.|0.25414	.|2.86;2.86;2.86;2.82;1.8;1.8;1.8	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.99999|0.99999	.|B;B	.|0.24675	.|0.091;0.109	.|B;B	.|0.29077	.|0.073;0.098	T|T	0.10291|0.10291	-1.0636|-1.0636	5|10	.|0.24483	.|T	.|0.36	-8.856|-8.856	11.3327|11.3327	0.49485|0.49485	0.14:0.7246:0.1354:0.0|0.14:0.7246:0.1354:0.0	.|.	.|366;366	.|E9PCY7;P31943	.|.;HNRH1_HUMAN	K|E	241|366;366;366;366;366;96;122	.|ENSP00000377082:G366E;ENSP00000397797:G366E;ENSP00000349168:G366E;ENSP00000327539:G366E;ENSP00000426275:G366E;ENSP00000444220:G96E;ENSP00000429481:G122E	.|ENSP00000327539:G366E	E|G	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178976678|178976678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.930000|3.930000	0.56522|0.56522	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.363	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		137	453	0	0	0	1	0	137	453				
DNAI2	64446	broad.mit.edu	37	17	72301399	72301399	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72301399C>A	ENST00000311014.6	+	9	1096	c.1029C>A	c.(1027-1029)atC>atA	p.I343I	DNAI2_ENST00000582036.1_Silent_p.I343I|RP11-647F2.2_ENST00000585167.1_RNA|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000446837.2_Silent_p.I343I|DNAI2_ENST00000579490.1_Silent_p.I400I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	343					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCATCGTCATCTCCTGCAACC	0.572									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1198-1200)atC>atA		dynein, axonemal, intermediate chain 2							97.0	77.0	84.0					17																	72301399		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72301399C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1029C>A	17.37:g.72301399C>A						DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000582036.1_Silent_p.I343I|DNAI2_ENST00000446837.2_Silent_p.I343I|DNAI2_ENST00000311014.6_Silent_p.I343I	p.I400I			Q9GZS0	DNAI2_HUMAN			8	1335	+			343					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1200C>A	CCDS11697.1																																																																																				0.572	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		69	310	1	0	2.25582e-47	1	2.77644e-47	69	310				
ANKDD1A	348094	broad.mit.edu	37	15	65236895	65236895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65236895G>T	ENST00000380230.3	+	12	1141	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	371					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AACCATGTCAGCCTGGTGGAC	0.502																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(1111-1113)aGc>aTc		ankyrin repeat and death domain containing 1A							98.0	83.0	88.0					15																	65236895		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65236895G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1112G>T	15.37:g.65236895G>T	ENSP00000369579:p.Ser371Ile					ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I|ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000357698.3_Intron	p.S371I	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			12	1141	+			371					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1112G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812775	0.32053	.	.	ENSG00000166839	ENST00000380230;ENST00000395720	T;T	0.64991	-0.13;-0.13	5.23	4.33	0.51752	Ankyrin repeat-containing domain (4);	0.364418	0.26244	N	0.025498	T	0.48892	0.1525	L	0.41236	1.265	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	T	0.50276	-0.8847	10	0.56958	D	0.05	-23.632	4.8555	0.13557	0.1712:0.0:0.6581:0.1707	.	371	Q495B1	AKD1A_HUMAN	I	371	ENSP00000369579:S371I;ENSP00000379070:S371I	ENSP00000369579:S371I	S	+	2	0	ANKDD1A	63023948	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.578000	0.36525	1.456000	0.47831	0.591000	0.81541	AGC		0.502	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		18	162	1	0	5.01169e-05	1	5.1097e-05	18	162				
MS4A2	2206	broad.mit.edu	37	11	59857209	59857209	+	Missense_Mutation	SNP	C	C	T	rs199688918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857209C>T	ENST00000278888.3	+	2	203	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	34					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CAGGAAGTATCTTCAGGCAGA	0.463																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(100-102)tCt>tTt		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)	C	PHE/SER	0,4402		0,0,2201	137.0	131.0	133.0		101	-0.3	0.0	11		133	3,8587	3.0+/-9.4	0,3,4292	yes	missense	MS4A2	NM_000139.4	155	0,3,6493	TT,TC,CC		0.0349,0.0,0.0231	benign	34/245	59857209	3,12989	2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857209C>T	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.101C>T	11.37:g.59857209C>T	ENSP00000278888:p.Ser34Phe						p.S34F	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			2	203	+		all_epithelial(135;0.245)	34					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.101C>T	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	5.228	0.227511	0.09916	0.0	3.49E-4	ENSG00000149534	ENST00000524868;ENST00000278888	D;T	0.85484	-1.99;2.02	4.15	-0.262	0.12958	.	12.226100	0.00166	N	0.000004	T	0.71626	0.3362	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.25884	0.064	T	0.61946	-0.6958	10	0.52906	T	0.07	3.7895	2.9406	0.05829	0.3662:0.402:0.0:0.2318	.	34	Q01362	FCERB_HUMAN	F	34	ENSP00000433311:S34F;ENSP00000278888:S34F	ENSP00000278888:S34F	S	+	2	0	MS4A2	59613785	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.753000	0.04792	-0.032000	0.13758	0.650000	0.86243	TCT		0.463	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			92	354	0	0	0	1	0	92	354				
OSGIN1	29948	broad.mit.edu	37	16	83992884	83992884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83992884C>A	ENST00000343939.2	+	4	719	c.336C>A	c.(334-336)atC>atA	p.I112I	OSGIN1_ENST00000565123.1_Silent_p.I29I|OSGIN1_ENST00000393306.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	112					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCTCTGGTATCTGCCTGTCCT	0.622																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(334-336)atC>atA		oxidative stress induced growth inhibitor 1							144.0	123.0	130.0					16																	83992884		2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83992884C>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.336C>A	16.37:g.83992884C>A						OSGIN1_ENST00000565123.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I|OSGIN1_ENST00000393306.1_Silent_p.I29I	p.I112I			Q9UJX0	OSGI1_HUMAN			4	719	+			112					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.336C>A																																																																																					0.622	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		18	530	1	0	1.01871e-10	1	1.082e-10	18	530				
MYH14	79784	broad.mit.edu	37	19	50792804	50792804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50792804C>T	ENST00000596571.1	+	32	4741	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C	MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000440075.2_Missense_Mutation_p.R1622C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1581					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCAAGCTGCGTCTGGAGGT	0.617																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(4864-4866)Cgt>Tgt		myosin, heavy chain 14, non-muscle							46.0	55.0	52.0					19																	50792804		2194	4292	6486	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50792804C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4741C>T	19.37:g.50792804C>T	ENSP00000472819:p.Arg1581Cys					MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1581C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C	p.R1622C			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	35	4911	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1581					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.4864C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565019	0.86439	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.25	4.25	0.50352	Myosin tail (1);	.	.	.	.	D	0.92756	0.7697	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.93907	0.7193	9	0.87932	D	0	.	14.5171	0.67826	0.0:1.0:0.0:0.0	.	1622;1581;1589	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1622;1614;1589;1365;1622	ENSP00000406273:R1622C;ENSP00000366169:R1614C;ENSP00000407879:R1589C;ENSP00000262269:R1622C	ENSP00000262269:R1622C	R	+	1	0	MYH14	55484616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.523000	0.60545	2.371000	0.80710	0.491000	0.48974	CGT		0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		16	100	0	0	0	1	0	16	100				
MCHR2	84539	broad.mit.edu	37	6	100395675	100395675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100395675C>T	ENST00000281806.2	-	3	669	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	MCHR2_ENST00000369212.2_Missense_Mutation_p.A119T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCACTACAGGCAAATTGGTTA	0.468																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(355-357)Gcc>Acc		melanin-concentrating hormone receptor 2							151.0	161.0	157.0					6																	100395675		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395675C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.355G>A	6.37:g.100395675C>T	ENSP00000281806:p.Ala119Thr					MCHR2_ENST00000445970.1_Missense_Mutation_p.A119T|MCHR2_ENST00000369212.1_Missense_Mutation_p.A119T	p.A119T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	3	669	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	119					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.355G>A	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	7.607	0.673964	0.14841	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.76060	-0.99;-0.99;-0.99	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.50017	0.1591	L	0.35249	1.045	0.40742	D	0.982849	B	0.27140	0.169	B	0.38194	0.267	T	0.51834	-0.8655	10	0.02654	T	1	.	14.8815	0.70537	0.0:1.0:0.0:0.0	.	119	Q969V1	MCHR2_HUMAN	T	119	ENSP00000403490:A119T;ENSP00000281806:A119T;ENSP00000358214:A119T	ENSP00000281806:A119T	A	-	1	0	MCHR2	100502396	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.089000	0.63090	0.650000	0.86243	GCC		0.468	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		141	748	0	0	0	1	0	141	748				
MYH13	8735	broad.mit.edu	37	17	10212991	10212991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10212991G>A	ENST00000418404.3	-	33	4976	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	MYH13_ENST00000252172.4_Silent_p.L1605L|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1605					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCAGCATCCAGCACGCTCTGC	0.547																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4813-4815)Ctg>Ttg		myosin, heavy chain 13, skeletal muscle							52.0	54.0	53.0					17																	10212991		2167	4282	6449	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212991G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4813C>T	17.37:g.10212991G>A						MYH13_ENST00000570743.1_Silent_p.L1605L|MYH13_ENST00000252172.4_Silent_p.L1605L	p.L1605L			Q9UKX3	MYH13_HUMAN			33	4976	-			1605					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4813C>T	CCDS45613.1																																																																																				0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		15	57	0	0	0	1	0	15	57				
TTLL4	9654	broad.mit.edu	37	2	219602420	219602420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602420G>A	ENST00000392102.1	+	3	361	c.21G>A	c.(19-21)caG>caA	p.Q7Q	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Silent_p.Q7Q|TTLL4_ENST00000442769.1_Silent_p.Q7Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	7					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGGAACACAGCACTATAGTA	0.587																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(19-21)caG>caA		tubulin tyrosine ligase-like family, member 4							56.0	55.0	55.0					2																	219602420		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602420G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.21G>A	2.37:g.219602420G>A						TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.Q7Q|TTLL4_ENST00000258398.4_Silent_p.Q7Q	p.Q7Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	361	+		Renal(207;0.0915)	7					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.21G>A	CCDS2422.1																																																																																				0.587	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		45	291	0	0	0	1	0	45	291				
SPTLC1	10558	broad.mit.edu	37	9	94812267	94812267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94812267C>T	ENST00000262554.2	-	9	868	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	288					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTCAGTGACTCCTCGGCCATG	0.388																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(862-864)gGa>gAa		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						159.0	147.0	151.0					9																	94812267		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94812267C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.863G>A	9.37:g.94812267C>T	ENSP00000262554:p.Gly288Glu						p.G288E	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			9	868	-			288					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.863G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811721	0.90707	.	.	ENSG00000090054	ENST00000262554	D	0.96427	-4.01	4.66	4.66	0.58398	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056205	0.64402	D	0.000001	D	0.98927	0.9636	H	0.97940	4.11	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.997;0.994	D	0.99425	1.0934	10	0.87932	D	0	-15.9455	17.7986	0.88579	0.0:1.0:0.0:0.0	.	288;288	Q6NUL7;O15269	.;SPTC1_HUMAN	E	288	ENSP00000262554:G288E	ENSP00000262554:G288E	G	-	2	0	SPTLC1	93852088	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.407000	0.80029	2.411000	0.81874	0.551000	0.68910	GGA		0.388	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		101	467	0	0	0	1	0	101	467				
LILRA2	11027	broad.mit.edu	37	19	55086372	55086372	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086372C>A	ENST00000251377.3	+	5	660	c.527C>A	c.(526-528)tCc>tAc	p.S176Y	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	176	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGTGGGTGGTCCTGGGCCATC	0.567																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(526-528)tCc>tAc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							165.0	153.0	157.0					19																	55086372		2203	4300	6503	SO:0001583	missense	0							g.chr19:55086372C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.527C>A	19.37:g.55086372C>A	ENSP00000251377:p.Ser176Tyr					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y	p.S176Y						GBM - Glioblastoma multiforme(193;0.0963)	5	660	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.527C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881285	0.02530	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	2.4	-4.8	0.03190	Immunoglobulin-like fold (1);	2.625940	0.01171	N	0.006877	T	0.06645	0.0170	L	0.42581	1.335	0.09310	N	1	B;B;B;D	0.60575	0.015;0.136;0.247;0.988	B;B;B;P	0.56163	0.006;0.097;0.15;0.793	T	0.51725	-0.8669	10	0.02654	T	1	.	8.9482	0.35771	0.0:0.2403:0.0:0.7597	.	176;164;176;176	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	176;176;176;176;164	ENSP00000388131:S176Y;ENSP00000251377:S176Y;ENSP00000375618:S176Y;ENSP00000251376:S176Y;ENSP00000375617:S164Y	ENSP00000251376:S176Y	S	+	2	0	LILRA2	59778184	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.287000	0.00526	-1.244000	0.02516	-0.358000	0.07595	TCC		0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			80	695	1	0	1.8615e-32	1	2.19839e-32	80	695				
MSRA	4482	broad.mit.edu	37	8	10102688	10102688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10102688G>A	ENST00000317173.4	+	3	535	c.286G>A	c.(286-288)Gca>Aca	p.A96T	MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000528246.1_Missense_Mutation_p.A30T|MSRA_ENST00000521209.2_Missense_Mutation_p.A30T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	96					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AGTTGGTTTTGCAGGAGGCTA	0.373																																					NSCLC(88;1378 1469 30580 49103 52286)	ENST00000528246.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8						c.(88-90)Gca>Aca		methionine sulfoxide reductase A	L-Methionine(DB00134)						103.0	107.0	106.0					8																	10102688		2203	4300	6503	SO:0001583	missense	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:10102688G>A	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.286G>A	8.37:g.10102688G>A	ENSP00000313921:p.Ala96Thr					MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000317173.4_Missense_Mutation_p.A96T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T|MSRA_ENST00000521209.2_Missense_Mutation_p.A30T	p.A30T	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN			4	711	+		Myeloproliferative disorder(644;0.178)	96					E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	ENST00000317173.4	37	c.88G>A	CCDS5975.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520417	0.85495	.	.	ENSG00000175806	ENST00000317173;ENST00000518255;ENST00000521209;ENST00000522907;ENST00000528246;ENST00000382490	.	.	.	5.66	5.66	0.87406	.	0.130128	0.53938	D	0.000051	T	0.66925	0.2839	L	0.46947	1.48	0.48395	D	0.999646	D;P;D	0.61697	0.99;0.955;0.977	D;P;P	0.65323	0.934;0.791;0.867	T	0.64166	-0.6471	8	.	.	.	-22.8028	13.3246	0.60452	0.0:0.0:0.842:0.158	.	53;53;96	B7Z694;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	T	96;96;30;30;30;53	.	.	A	+	1	0	MSRA	10140098	1.000000	0.71417	0.846000	0.33378	0.998000	0.95712	4.700000	0.61803	2.675000	0.91044	0.655000	0.94253	GCA		0.373	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		71	410	0	0	0	1	0	71	410				
TMEM147	10430	broad.mit.edu	37	19	36037431	36037431	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36037431C>T	ENST00000222284.5	+	3	296	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_Silent_p.L51L|TMEM147_ENST00000392204.2_Silent_p.L2L|AD000090.2_ENST00000444728.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	51						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCAGATGCTGTTCTTGGC	0.537																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(4-6)Ctg>Ttg		transmembrane protein 147							164.0	141.0	148.0					19																	36037431		2203	4300	6503	SO:0001819	synonymous_variant	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037431C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.151C>T	19.37:g.36037431C>T						TMEM147_ENST00000222284.5_Silent_p.L51L|TMEM147_ENST00000392205.1_Silent_p.L51L	p.L2L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	332	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		51					A8MWW0|O75790	Silent	SNP	ENST00000222284.5	37	c.4C>T	CCDS12466.1																																																																																				0.537	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		41	211	0	0	0	1	0	41	211				
SLC10A1	6554	broad.mit.edu	37	14	70252828	70252828	+	Missense_Mutation	SNP	G	G	A	rs200149939		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252828G>A	ENST00000216540.4	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	185					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	ATGACATAGCGCATGTATTGT	0.403																																						ENST00000216540.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14						c.(553-555)Cgc>Tgc		solute carrier family 10 (sodium/bile acid cotransporter), member 1		G	CYS/ARG	1,4405		0,1,2202	169.0	146.0	154.0		553	3.2	0.4	14		154	0,8600		0,0,4300	no	missense	SLC10A1	NM_003049.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	185/350	70252828	1,13005	2203	4300	6503	SO:0001583	missense	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70252828G>A	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.553C>T	14.37:g.70252828G>A	ENSP00000216540:p.Arg185Cys						p.R185C	NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	2	686	-			185					B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	c.553C>T	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	3.033	-0.199272	0.06219	2.27E-4	0.0	ENSG00000100652	ENST00000216540	T	0.12672	2.66	5.01	3.15	0.36227	.	0.641375	0.16982	N	0.191666	T	0.19287	0.0463	M	0.80183	2.485	0.09310	N	1	B	0.21147	0.052	B	0.16722	0.016	T	0.13818	-1.0495	10	0.59425	D	0.04	-5.434	9.8085	0.40808	0.0762:0.3746:0.5491:0.0	.	185	Q14973	NTCP_HUMAN	C	185	ENSP00000216540:R185C	ENSP00000216540:R185C	R	-	1	0	SLC10A1	69322581	0.002000	0.14202	0.444000	0.26895	0.010000	0.07245	0.911000	0.28584	0.793000	0.33875	-0.305000	0.09177	CGC		0.403	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			55	296	0	0	0	1	0	55	296				
SLC11A2	4891	broad.mit.edu	37	12	51390675	51390675	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390675C>T	ENST00000262051.7	-	9	843	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000546743.1_Silent_p.Q173Q|SLC11A2_ENST00000394904.3_Silent_p.Q281Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	252					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCTGTTCAATCTGTGGAGTGC	0.498																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(841-843)caG>caA		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							225.0	145.0	172.0					12																	51390675		2203	4300	6503	SO:0001819	synonymous_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51390675C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.756G>A	12.37:g.51390675C>T						SLC11A2_ENST00000546743.1_Silent_p.Q173Q|SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000262051.7_Silent_p.Q252Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q	p.Q281Q	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			9	892	-			252					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.843G>A	CCDS53792.1																																																																																				0.498	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			58	250	0	0	0	1	0	58	250				
MKRN2	23609	broad.mit.edu	37	3	12616471	12616471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12616471C>T	ENST00000170447.7	+	5	960	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MKRN2_ENST00000411987.1_Missense_Mutation_p.R232W|MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	275					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCGGCAGTGGCGGTGTGCCAA	0.473																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(823-825)Cgg>Tgg		makorin ring finger protein 2							88.0	76.0	80.0					3																	12616471		2203	4300	6503	SO:0001583	missense	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12616471C>T		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.823C>T	3.37:g.12616471C>T	ENSP00000170447:p.Arg275Trp					MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W|MKRN2_ENST00000411987.1_Missense_Mutation_p.R232W	p.R275W	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			5	960	+			275					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.823C>T	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458241	0.84317	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.67865	-0.29;0.97;-0.29	5.91	-3.06	0.05379	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81134	-0.1071	10	0.87932	D	0	-6.668	22.9923	0.99978	0.1948:0.8052:0.0:0.0	.	232;273;275	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	W	275;232;273	ENSP00000170447:R275W;ENSP00000396340:R232W;ENSP00000397983:R273W	ENSP00000170447:R275W	R	+	1	2	MKRN2	12591471	0.989000	0.36119	0.986000	0.45419	0.996000	0.88848	0.385000	0.20685	-0.390000	0.07774	0.655000	0.94253	CGG		0.473	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		45	215	0	0	0	1	0	45	215				
KCNA10	3744	broad.mit.edu	37	1	111060647	111060647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060647G>T	ENST00000369771.2	-	1	1150	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	255					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTCATGTTGAGATTGGGGTCT	0.542																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(763-765)Ctc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 10							201.0	157.0	172.0					1																	111060647		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060647G>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.763C>A	1.37:g.111060647G>T	ENSP00000358786:p.Leu255Ile						p.L255I	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1150	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	255						Missense_Mutation	SNP	ENST00000369771.2	37	c.763C>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067166	0.01934	.	.	ENSG00000143105	ENST00000369771	D	0.96856	-4.15	5.8	1.72	0.24424	.	.	.	.	.	D	0.83626	0.5295	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74503	-0.3644	9	0.34782	T	0.22	.	5.0872	0.14689	0.0704:0.1144:0.3314:0.4838	.	255	Q16322	KCA10_HUMAN	I	255	ENSP00000358786:L255I	ENSP00000358786:L255I	L	-	1	0	KCNA10	110862170	0.026000	0.19158	0.178000	0.23040	0.216000	0.24613	0.509000	0.22707	0.064000	0.16427	-0.152000	0.13540	CTC		0.542	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		49	413	1	0	6.14515e-18	1	6.80267e-18	49	413				
HRAS	3265	broad.mit.edu	37	11	533503	533503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:533503C>T	ENST00000451590.1	-	4	587	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T|HRAS_ENST00000417302.1_Missense_Mutation_p.A134T|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000397596.2_Missense_Mutation_p.A134T	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	134					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.A134S(2)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGCTTCGGGCGAGGTCCTGA	0.662		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		2	Substitution - Missense(2)	p.A134S(2)	haematopoietic_and_lymphoid_tissue(2)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(400-402)Gcc>Acc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						152.0	136.0	142.0					11																	533503		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533503C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.400G>A	11.37:g.533503C>T	ENSP00000407586:p.Ala134Thr	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000397596.2_Missense_Mutation_p.A134T|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T|HRAS_ENST00000451590.1_Missense_Mutation_p.A134T	p.A134T	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	587	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	134					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.400G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565125	0.86439	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	H	0.96748	3.875	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72625	0.938;0.978	D	0.94475	0.7688	10	0.87932	D	0	.	12.9091	0.58171	0.0:0.8348:0.1651:0.0	.	134;134	P01112-2;P01112	.;RASH_HUMAN	T	134	ENSP00000380722:A134T;ENSP00000380723:A134T;ENSP00000407586:A134T;ENSP00000388246:A134T;ENSP00000309845:A134T	ENSP00000309845:A134T	A	-	1	0	HRAS	523503	1.000000	0.71417	0.885000	0.34714	0.857000	0.48899	5.759000	0.68785	0.801000	0.34066	0.561000	0.74099	GCC		0.662	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		102	520	0	0	0	1	0	102	520				
ITFG3	83986	broad.mit.edu	37	16	309975	309975	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:309975C>A	ENST00000399932.3	+	5	844	c.393C>A	c.(391-393)tcC>tcA	p.S131S	ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	131						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CAGGCTTTTCCTCTCCCTGCA	0.637																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(391-393)tcC>tcA		integrin alpha FG-GAP repeat containing 3							54.0	54.0	54.0					16																	309975		2019	4159	6178	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:309975C>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.393C>A	16.37:g.309975C>A						ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S	p.S131S			Q9H0X4	ITFG3_HUMAN			5	844	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	131					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.393C>A	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093049	0.01858	.	.	ENSG00000167930	ENST00000421000	.	.	.	4.38	1.3	0.21679	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.24654	N	0.993503	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-4.4893	3.7011	0.08383	0.0:0.4522:0.1843:0.3635	.	.	.	.	H	60	.	.	P	+	2	0	ITFG3	249976	0.001000	0.12720	0.091000	0.20842	0.034000	0.12701	-0.327000	0.07955	0.579000	0.29504	0.655000	0.94253	CCT		0.637	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		49	178	1	0	1.38658e-30	1	1.62744e-30	49	178				
MGA	23269	broad.mit.edu	37	15	42042630	42042630	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42042630G>A	ENST00000570161.1	+	16	6825	c.6825G>A	c.(6823-6825)ctG>ctA	p.L2275L	MGA_ENST00000566586.1_Silent_p.L2066L|MGA_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000219905.7_Silent_p.L2275L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCACTTACTGCTACCTGGAG	0.438																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6823-6825)ctG>ctA		MGA, MAX dimerization protein							79.0	75.0	76.0					15																	42042630		1896	4119	6015	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042630G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6825G>A	15.37:g.42042630G>A						MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000570161.1_Silent_p.L2275L|MGA_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000566586.1_Silent_p.L2066L	p.L2275L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	7006	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2236					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.6825G>A	CCDS55959.1																																																																																				0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		52	166	0	0	0	1	0	52	166				
SLC28A1	9154	broad.mit.edu	37	15	85447402	85447402	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85447402T>G	ENST00000286749.3	+	6	626	c.536T>G	c.(535-537)cTg>cGg	p.L179R	SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L179R			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	179					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCTGAGCAACTGGTGTCCTTC	0.587																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(535-537)cTg>cGg		solute carrier family 28 (concentrative nucleoside transporter), member 1							179.0	149.0	159.0					15																	85447402		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85447402T>G	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.536T>G	15.37:g.85447402T>G	ENSP00000286749:p.Leu179Arg					SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000286749.3_Missense_Mutation_p.L179R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R	p.L179R	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	738	+			179					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.536T>G	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953784	0.34471	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	4.38	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.83384	2.64	0.80722	D	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;0.998;0.999;0.993;1.0	T	0.53208	-0.8471	10	0.87932	D	0	-0.008	6.4798	0.22057	0.0:0.1088:0.0:0.8912	.	179;179;179;101;179	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	R	179;179;179;179;179;101	ENSP00000440546:L179R;ENSP00000443752:L179R;ENSP00000444700:L179R;ENSP00000286749:L179R;ENSP00000378074:L179R;ENSP00000443764:L101R	ENSP00000286749:L179R	L	+	2	0	SLC28A1	83248406	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	5.495000	0.66912	0.753000	0.32945	-0.256000	0.11100	CTG		0.587	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			12	490	0	0	0	1	0	12	490				
GRK6	2870	broad.mit.edu	37	5	176860543	176860543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176860543G>A	ENST00000355472.5	+	8	772	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	GRK6_ENST00000355958.5_Missense_Mutation_p.A202T|GRK6_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGTGTGCGCCTGCCAGGT	0.602																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(604-606)Gcc>Acc		G protein-coupled receptor kinase 6							58.0	59.0	59.0					5																	176860543		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176860543G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.604G>A	5.37:g.176860543G>A	ENSP00000347655:p.Ala202Thr					GRK6_ENST00000355958.5_Missense_Mutation_p.A202T|GRK6_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T	p.A202T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	772	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	202			Protein kinase.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.604G>A	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422879	0.96111	.	.	ENSG00000198055	ENST00000506296;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T	0.24723	3.14;1.84;1.84;1.84;1.84;1.84	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.992;0.992;0.997	T	0.32719	-0.9896	10	0.87932	D	0	-21.2385	19.9983	0.97395	0.0:0.0:1.0:0.0	.	202;172;202;202	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	170;202;202;202;202;202	ENSP00000421055:A170T;ENSP00000347655:A202T;ENSP00000427581:A202T;ENSP00000377204:A202T;ENSP00000348230:A202T;ENSP00000433511:A202T	ENSP00000347655:A202T	A	+	1	0	GRK6	176793149	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	9.807000	0.99171	2.724000	0.93272	0.561000	0.74099	GCC		0.602	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		150	304	0	0	0	1	0	150	304				
SLC44A1	23446	broad.mit.edu	37	9	108110647	108110647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108110647C>A	ENST00000374720.3	+	5	662	c.415C>A	c.(415-417)Cta>Ata	p.L139I	SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	139					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGTTCAGCCCTATGTAGCTA	0.353																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(415-417)Cta>Ata		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						111.0	110.0	110.0					9																	108110647		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108110647C>A	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.415C>A	9.37:g.108110647C>A	ENSP00000363852:p.Leu139Ile					SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I	p.L139I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			5	662	+			139					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.415C>A	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511130	0.44660	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.80123	-1.34;-1.34;-1.34	5.39	3.3	0.37823	.	0.000000	0.64402	D	0.000001	T	0.78861	0.4350	M	0.62266	1.93	0.80722	D	1	B;B	0.30482	0.281;0.023	B;B	0.42214	0.38;0.007	T	0.70905	-0.4745	10	0.21014	T	0.42	-5.5214	7.2023	0.25887	0.0:0.6409:0.0:0.3591	.	139;139	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	I	139	ENSP00000363855:L139I;ENSP00000363852:L139I;ENSP00000363856:L139I	ENSP00000363852:L139I	L	+	1	2	SLC44A1	107150468	0.997000	0.39634	0.999000	0.59377	0.926000	0.56050	1.398000	0.34554	1.276000	0.44395	0.609000	0.83330	CTA		0.353	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		78	343	1	0	4.8811e-34	1	5.79764e-34	78	343				
ZBTB41	360023	broad.mit.edu	37	1	197169467	197169467	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197169467T>G	ENST00000367405.4	-	1	205	c.137A>C	c.(136-138)gAa>gCa	p.E46A	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGAAGAGCTTCAGGAGTTGG	0.383																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(136-138)gAa>gCa		zinc finger and BTB domain containing 41							101.0	106.0	104.0					1																	197169467		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169467T>G		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.137A>C	1.37:g.197169467T>G	ENSP00000356375:p.Glu46Ala					ZBTB41_ENST00000467322.1_5'UTR	p.E46A	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	205	-			46					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.137A>C	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612969	0.28712	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.96	3.83	0.44106	.	0.494524	0.16423	N	0.215093	T	0.03651	0.0104	N	0.14661	0.345	0.28586	N	0.9099	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.72032	D	0.01	.	2.4251	0.04457	0.1308:0.0884:0.2048:0.5761	.	46	Q5SVQ8	ZBT41_HUMAN	A	46	ENSP00000356375:E46A	ENSP00000356375:E46A	E	-	2	0	ZBTB41	195436090	0.989000	0.36119	0.794000	0.32065	0.968000	0.65278	1.307000	0.33516	0.732000	0.32470	0.254000	0.18369	GAA		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		78	423	0	0	0	1	0	78	423				
GSTCD	79807	broad.mit.edu	37	4	106640462	106640462	+	Missense_Mutation	SNP	G	G	T	rs145276245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640462G>T	ENST00000515279.1	+	3	892	c.672G>T	c.(670-672)caG>caT	p.Q224H	GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	224	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCCACACACAGGAAACATCTG	0.483																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(670-672)caG>caT		glutathione S-transferase, C-terminal domain containing							110.0	115.0	113.0					4																	106640462		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640462G>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.672G>T	4.37:g.106640462G>T	ENSP00000422354:p.Gln224His					GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H|GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H	p.Q224H			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	892	+		Hepatocellular(203;0.217)	224			GST C-terminal.		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.672G>T	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219458	0.22373	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.0	1.14	0.20703	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	1.077750	0.07016	N	0.825997	T	0.30070	0.0753	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.26573	-1.0099	9	0.42905	T	0.14	-7.8221	4.501	0.11863	0.2714:0.3228:0.4057:0.0	.	137;224	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	H	137;137;224;224;224	.	ENSP00000353695:Q224H	Q	+	3	2	GSTCD	106859911	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	0.497000	0.22514	0.250000	0.21479	0.557000	0.71058	CAG		0.483	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		67	349	1	0	1.69475e-38	1	2.04315e-38	67	349				
TNNC2	7125	broad.mit.edu	37	20	44452970	44452970	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44452970C>A	ENST00000372555.3	-	4	367	c.275G>T	c.(274-276)aGc>aTc	p.S92I	TNNC2_ENST00000372557.1_Missense_Mutation_p.S77I	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	92	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CTCCTCCTCGCTCTTCCCTTT	0.657																																						ENST00000372557.1																			0				endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(229-231)aGc>aTc		troponin C type 2 (fast)							70.0	65.0	66.0					20																	44452970		2203	4300	6503	SO:0001583	missense	7125				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	g.chr20:44452970C>A		CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.275G>T	20.37:g.44452970C>A	ENSP00000361636:p.Ser92Ile					TNNC2_ENST00000372555.3_Missense_Mutation_p.S92I	p.S77I			P02585	TNNC2_HUMAN			5	437	-		Myeloproliferative disorder(115;0.0122)	92			EF-hand 2.		Q6FH92	Missense_Mutation	SNP	ENST00000372555.3	37	c.230G>T	CCDS13375.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794949	0.50208	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.63744	-0.06;-0.06	4.48	2.39	0.29439	EF-hand-like domain (1);	0.085611	0.85682	D	0.000000	T	0.56790	0.2009	M	0.63843	1.955	0.53688	D	0.999974	P	0.39060	0.657	B	0.34180	0.177	T	0.66329	-0.5951	10	0.87932	D	0	-21.9345	14.1434	0.65334	0.0:0.5939:0.4061:0.0	.	92	P02585	TNNC2_HUMAN	I	77;92	ENSP00000361638:S77I;ENSP00000361636:S92I	ENSP00000361636:S92I	S	-	2	0	TNNC2	43886377	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.604000	0.36804	1.085000	0.41206	0.544000	0.68410	AGC		0.657	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	NM_003279		78	350	1	0	4.01556e-35	1	4.78946e-35	78	350				
OR13J1	392309	broad.mit.edu	37	9	35870113	35870113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35870113C>T	ENST00000377981.2	-	1	348	c.286G>A	c.(286-288)Gtc>Atc	p.V96I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCACAGACAGCAAAGGAG	0.607																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(286-288)Gtc>Atc		olfactory receptor, family 13, subfamily J, member 1							117.0	112.0	114.0					9																	35870113		2203	4300	6503	SO:0001583	missense	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35870113C>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.286G>A	9.37:g.35870113C>T	ENSP00000367219:p.Val96Ile						p.V96I	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	348	-	all_epithelial(49;0.169)		96					B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	ENST00000377981.2	37	c.286G>A	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068871	0.36470	.	.	ENSG00000168828	ENST00000377981	T	0.03004	4.08	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.106709	0.41823	D	0.000803	T	0.03136	0.0092	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.33574	-0.9863	10	0.87932	D	0	.	9.0204	0.36195	0.0:0.9037:0.0:0.0963	.	96	Q8NGT2	O13J1_HUMAN	I	96	ENSP00000367219:V96I	ENSP00000367219:V96I	V	-	1	0	OR13J1	35860113	0.002000	0.14202	0.211000	0.23655	0.814000	0.46013	1.811000	0.38942	2.890000	0.99128	0.650000	0.86243	GTC		0.607	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			10	293	0	0	0	1	0	10	293				
MTHFD2	10797	broad.mit.edu	37	2	74435776	74435776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74435776C>T	ENST00000394053.2	+	4	570	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000477455.1_3'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	164					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TAATGTAGGACGAATGTGTTT	0.418																																						ENST00000394053.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(490-492)Cga>Tga		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						296.0	269.0	278.0					2																	74435776		1950	4161	6111	SO:0001587	stop_gained	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74435776C>T	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.490C>T	2.37:g.74435776C>T	ENSP00000377617:p.Arg164*					MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*|MTHFD2_ENST00000477455.1_3'UTR	p.R164*	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN			4	570	+			164					Q53G90|Q53GV5|Q53S36|Q7Z650	Nonsense_Mutation	SNP	ENST00000394053.2	37	c.490C>T	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402043	0.83120	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000409601	.	.	.	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9483	0.47315	0.3401:0.6599:0.0:0.0	.	.	.	.	X	164;62;123	.	ENSP00000264090:R62X	R	+	1	2	MTHFD2	74289284	0.942000	0.31987	0.935000	0.37517	0.914000	0.54420	1.619000	0.36965	1.200000	0.43188	0.650000	0.86243	CGA		0.418	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			306	817	0	0	0	1	0	306	817				
EPB41L4B	54566	broad.mit.edu	37	9	111956567	111956567	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111956567G>T	ENST00000374566.3	-	21	2673	c.2156C>A	c.(2155-2157)cCc>cAc	p.P719H	RNU6-984P_ENST00000363236.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	719					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGACCTTGGGGGACGGCAG	0.632																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2155-2157)cCc>cAc		erythrocyte membrane protein band 4.1 like 4B							122.0	139.0	134.0					9																	111956567		2028	4186	6214	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111956567G>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2156C>A	9.37:g.111956567G>T	ENSP00000363694:p.Pro719His						p.P719H	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			21	2673	-			719					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.2156C>A	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511193	0.64522	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.92965	-3.14	5.49	5.49	0.81192	.	0.000000	0.37669	N	0.001986	D	0.94716	0.8295	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94895	0.8051	10	0.72032	D	0.01	.	14.8772	0.70504	0.0:0.0:1.0:0.0	.	719	Q9H329	E41LB_HUMAN	H	404;719	ENSP00000363694:P719H	ENSP00000262536:P404H	P	-	2	0	EPB41L4B	110996388	1.000000	0.71417	0.678000	0.29963	0.532000	0.34746	5.211000	0.65219	2.582000	0.87167	0.655000	0.94253	CCC		0.632	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		116	431	1	0	5.12507e-49	1	6.33484e-49	116	431				
CNTN4	152330	broad.mit.edu	37	3	2928774	2928774	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2928774G>T	ENST00000397461.1	+	9	1190	c.806G>T	c.(805-807)aGg>aTg	p.R269M	CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M|CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	269	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAATAGCAAGGAAAGCCAGA	0.408																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(805-807)aGg>aTg		contactin 4							90.0	83.0	85.0					3																	2928774		1851	4106	5957	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2928774G>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.806G>T	3.37:g.2928774G>T	ENSP00000380602:p.Arg269Met					CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M|CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M	p.R269M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	9	1190	+		Ovarian(110;0.156)	269			Ig-like C2-type 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.806G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511723	0.64522	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.73	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060671	0.64402	D	0.000008	T	0.48750	0.1517	N	0.13198	0.31	0.80722	D	1	P;P	0.49862	0.785;0.929	P;P	0.44518	0.452;0.452	T	0.46373	-0.9196	10	0.51188	T	0.08	.	7.155	0.25632	0.1744:0.1352:0.6904:0.0	.	269;269	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	269;269;269;50	ENSP00000396010:R269M;ENSP00000380602:R269M;ENSP00000413642:R269M;ENSP00000351267:R50M	ENSP00000351267:R50M	R	+	2	0	CNTN4	2903774	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	4.415000	0.59809	0.569000	0.29329	0.650000	0.86243	AGG		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			40	175	1	0	3.66854e-30	1	4.2996e-30	40	175				
SVIL	6840	broad.mit.edu	37	10	29754582	29754582	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29754582G>T	ENST00000355867.4	-	34	6827	c.6075C>A	c.(6073-6075)ccC>ccA	p.P2025P	PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Silent_p.P939P|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.P2025P|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2025					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGACCACAGAGGGGGCTCGGG	0.587																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6073-6075)ccC>ccA		supervillin							42.0	46.0	45.0					10																	29754582		2203	4299	6502	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29754582G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6075C>A	10.37:g.29754582G>T						PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000355867.4_Silent_p.P2025P|SVIL_ENST00000535393.1_Silent_p.P939P|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.P2025P			O95425	SVIL_HUMAN			36	6524	-		Breast(68;0.103)	2025					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.6075C>A	CCDS7164.1																																																																																				0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			45	225	1	0	1.61004e-24	1	1.84098e-24	45	225				
VWA3B	200403	broad.mit.edu	37	2	98853155	98853155	+	Missense_Mutation	SNP	G	G	A	rs370362777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98853155G>A	ENST00000477737.1	+	19	2839	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	879								p.V879F(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTATGTTCCCGTCCTGGACAA	0.478																																						ENST00000477737.1																			1	Substitution - Missense(1)	p.V879F(1)	lung(1)	NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2635-2637)Gtc>Atc		von Willebrand factor A domain containing 3B		G	ILE/VAL	1,4057		0,1,2028	128.0	135.0	133.0		2635	-5.5	0.0	2		133	2,8398		0,2,4198	no	missense	VWA3B	NM_144992.4	29	0,3,6226	AA,AG,GG		0.0238,0.0246,0.0241	benign	879/1295	98853155	3,12455	2029	4200	6229	SO:0001583	missense	200403							g.chr2:98853155G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2635G>A	2.37:g.98853155G>A	ENSP00000417955:p.Val879Ile						p.V879I	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			19	2839	+			879					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2635G>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.788127|-1.788127	0.00628|0.00628	2.46E-4|2.46E-4	2.38E-4|2.38E-4	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.04603	.|3.59	4.93|4.93	-5.54|-5.54	0.02544|0.02544	.|.	.|0.860524	.|0.09978	.|N	.|0.731380	T|T	0.01353|0.01353	0.0044|0.0044	N|N	0.01505|0.01505	-0.83|-0.83	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B;B	.|0.15719	.|0.007;0.014;0.005;0.005	.|B;B;B;B	.|0.11329	.|0.004;0.004;0.006;0.002	T|T	0.43360|0.43360	-0.9396|-0.9396	5|10	.|0.02654	.|T	.|1	.|.	8.9965|8.9965	0.36055|0.36055	0.3303:0.0:0.5651:0.1046|0.3303:0.0:0.5651:0.1046	.|.	.|271;879;879;879	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	H|I	289|879	.|ENSP00000417955:V879I	.|ENSP00000417955:V879I	R|V	+|+	2|1	0|0	VWA3B|VWA3B	98219587|98219587	0.014000|0.014000	0.17966|0.17966	0.000000|0.000000	0.03702|0.03702	0.082000|0.082000	0.17680|0.17680	0.010000|0.010000	0.13242|0.13242	-1.438000|-1.438000	0.01965|0.01965	-0.218000|-0.218000	0.12543|0.12543	CGT|GTC		0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		137	806	0	0	0	1	0	137	806				
AGMO	392636	broad.mit.edu	37	7	15599824	15599824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:15599824C>A	ENST00000342526.3	-	2	368	c.199G>T	c.(199-201)Ggt>Tgt	p.G67C		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	67					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCCAGGCGACCTGGTGGCTTT	0.438																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(199-201)Ggt>Tgt		alkylglycerol monooxygenase							118.0	108.0	111.0					7																	15599824		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599824C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.199G>T	7.37:g.15599824C>A	ENSP00000341662:p.Gly67Cys						p.G67C	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			2	368	-			67					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.199G>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073690	0.55646	.	.	ENSG00000187546	ENST00000342526	T	0.32023	1.47	5.93	4.13	0.48395	.	0.243211	0.42420	D	0.000712	T	0.39172	0.1068	L	0.57536	1.79	0.09310	N	0.999998	P	0.49358	0.923	P	0.53146	0.719	T	0.19418	-1.0306	10	0.52906	T	0.07	-13.2306	7.9099	0.29785	0.0:0.7277:0.1329:0.1394	.	67	Q6ZNB7	ALKMO_HUMAN	C	67	ENSP00000341662:G67C	ENSP00000341662:G67C	G	-	1	0	AGMO	15566349	0.003000	0.15002	0.594000	0.28785	0.021000	0.10359	1.320000	0.33666	1.508000	0.48769	0.655000	0.94253	GGT		0.438	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		74	279	1	0	3.41413e-29	1	3.98584e-29	74	279				
TMEM132A	54972	broad.mit.edu	37	11	60696112	60696112	+	Silent	SNP	C	C	T	rs367807455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696112C>T	ENST00000453848.2	+	4	704	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM132A_ENST00000005286.4_Silent_p.G182G			Q24JP5	T132A_HUMAN	transmembrane protein 132A	182						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CATCCCTGGGCGCCTGCGTGG	0.642																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(544-546)ggC>ggT		transmembrane protein 132A		C	,	1,4317		0,1,2158	45.0	49.0	48.0		546,546	-5.8	0.9	11		48	0,8452		0,0,4226	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	0,1,6384	TT,TC,CC		0.0,0.0232,0.0078	,	182/1025,182/1024	60696112	1,12769	2159	4226	6385	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696112C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.546C>T	11.37:g.60696112C>T						TMEM132A_ENST00000453848.2_Silent_p.G182G	p.G182G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			4	699	+			182					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.546C>T	CCDS44618.1																																																																																				0.642	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		39	478	0	0	0	1	0	39	478				
DHX38	9785	broad.mit.edu	37	16	72138495	72138495	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72138495T>C	ENST00000268482.3	+	15	2630	c.2121T>C	c.(2119-2121)cgT>cgC	p.R707R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	707					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTGGCCGTACCTTCCCTG	0.547																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2119-2121)cgT>cgC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							242.0	186.0	205.0					16																	72138495		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72138495T>C	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2121T>C	16.37:g.72138495T>C						DHX38_ENST00000536867.1_Intron	p.R707R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			15	2630	+		Ovarian(137;0.125)	707					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.2121T>C	CCDS10907.1																																																																																				0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		135	540	0	0	0	1	0	135	540				
DMGDH	29958	broad.mit.edu	37	5	78340214	78340214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78340214C>T	ENST00000255189.3	-	6	935	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	303					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCATCCCTTTCCTGTCGGAGA	0.443																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(907-909)Gaa>Aaa		dimethylglycine dehydrogenase							131.0	118.0	122.0					5																	78340214		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78340214C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.907G>A	5.37:g.78340214C>T	ENSP00000255189:p.Glu303Lys					DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K|DMGDH_ENST00000540686.1_Intron	p.E303K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	6	935	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	303					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.907G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195254	0.94960	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.33865	1.39;1.39;1.39	5.74	4.88	0.63580	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.91140	3.18	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.992	D;P;D	0.74023	0.982;0.897;0.937	T	0.76127	-0.3073	10	0.72032	D	0.01	.	14.797	0.69884	0.0:0.9308:0.0:0.0692	.	102;153;303	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	K	303;142;102;153	ENSP00000255189:E303K;ENSP00000430972:E142K;ENSP00000369667:E102K	ENSP00000255189:E303K	E	-	1	0	DMGDH	78375970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.701000	0.84566	1.440000	0.47531	0.650000	0.86243	GAA		0.443	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		99	399	0	0	0	1	0	99	399				
MYH6	4624	broad.mit.edu	37	14	23857491	23857491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23857491G>A	ENST00000356287.3	-	29	4261	c.4232C>T	c.(4231-4233)gCc>gTc	p.A1411V	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.A1411V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1411					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGCACTTGGCATTAACAGC	0.597																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4231-4233)gCc>gTc		myosin, heavy chain 6, cardiac muscle, alpha							111.0	107.0	108.0					14																	23857491		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23857491G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4232C>T	14.37:g.23857491G>A	ENSP00000348634:p.Ala1411Val					MYH6_ENST00000356287.3_Missense_Mutation_p.A1411V	p.A1411V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	30	4302	-	all_cancers(95;2.54e-05)		1411					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4232C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.907586	0.92107	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78816	-1.21;-1.21	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.87822	0.6274	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89631	0.3855	9	0.87932	D	0	.	17.8925	0.88877	0.0:0.0:1.0:0.0	.	1411	P13533	MYH6_HUMAN	V	1411	ENSP00000386041:A1411V;ENSP00000348634:A1411V	ENSP00000348634:A1411V	A	-	2	0	MYH6	22927331	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.441000	0.97557	2.292000	0.77174	0.561000	0.74099	GCC		0.597	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			122	438	0	0	0	1	0	122	438				
GLYATL1	92292	broad.mit.edu	37	11	58723238	58723238	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58723238T>A	ENST00000317391.4	+	8	987	c.647T>A	c.(646-648)gTc>gAc	p.V216D	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.V247D|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	216						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCAGAGGGAGTCCCGGTCTCA	0.532																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(739-741)gTc>gAc		glycine-N-acyltransferase-like 1	Glycine(DB00145)						52.0	50.0	50.0					11																	58723238		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723238T>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.647T>A	11.37:g.58723238T>A	ENSP00000322223:p.Val216Asp					RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.V216D	p.V247D	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			7	790	+			216					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.740T>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	1.884	-0.457231	0.04540	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16597	2.33;2.33	2.62	-5.25	0.02781	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	1.743380	0.03968	U	0.291199	T	0.05823	0.0152	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.30909	-0.9962	10	0.14656	T	0.56	.	3.8067	0.08780	0.5822:0.2383:0.0:0.1796	.	247;216	Q969I3-2;Q969I3	.;GLYL1_HUMAN	D	193;216;247	ENSP00000322223:V216D;ENSP00000300079:V247D	ENSP00000300079:V247D	V	+	2	0	GLYATL1	58479814	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-4.651000	0.00203	-0.886000	0.03966	0.338000	0.21704	GTC		0.532	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		41	206	0	0	0	1	0	41	206				
PML	5371	broad.mit.edu	37	15	74315645	74315645	+	Missense_Mutation	SNP	G	G	A	rs375594567		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74315645G>A	ENST00000268058.3	+	3	1175	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000565898.1_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000567543.1_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	360					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCCGCCTGCGCCAGGAGGAG	0.677			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1078-1080)cGc>cAc		promyelocytic leukemia		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4368		0,0,2184	23.0	26.0	25.0		1079,1079,1079,1079,1079,1079,1079,1079,1079	2.6	0.9	15		25	1,8539		0,1,4269	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	PML	NM_002675.3,NM_033238.2,NM_033239.2,NM_033240.2,NM_033244.3,NM_033246.2,NM_033247.2,NM_033249.2,NM_033250.2	29,29,29,29,29,29,29,29,29	0,1,6453	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	360/634,360/883,360/830,360/612,360/561,360/424,360/436,360/586,360/782	74315645	1,12907	2184	4270	6454	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74315645G>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1079G>A	15.37:g.74315645G>A	ENSP00000268058:p.Arg360His					PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000268058.3_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000567543.1_Missense_Mutation_p.R360H	p.R360H			P29590	PML_HUMAN			3	1163	+			360					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1079G>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996970	0.35226	0.0	1.17E-4	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.48201	0.82	4.53	2.61	0.31194	.	0.685983	0.13244	N	0.402604	T	0.59252	0.2180	L	0.59436	1.845	0.20196	N	0.999927	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.991;0.999;0.998;0.999;0.996;0.999;1.0;0.999;0.999;0.998;0.999;0.998	D;P;D;P;P;P;D;D;P;D;P;D;P	0.68621	0.949;0.775;0.959;0.877;0.9;0.899;0.91;0.923;0.868;0.931;0.799;0.909;0.89	T	0.42965	-0.9420	10	0.62326	D	0.03	-17.2149	7.2127	0.25943	0.209:0.0:0.791:0.0	.	360;310;360;360;360;360;360;360;360;360;360;360;363	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	H	360	ENSP00000268058:R360H	ENSP00000268058:R360H	R	+	2	0	PML	72102698	0.369000	0.25039	0.944000	0.38274	0.040000	0.13550	1.448000	0.35112	1.136000	0.42199	-0.379000	0.06801	CGC		0.677	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		11	234	0	0	0	1	0	11	234				
C10orf12	26148	broad.mit.edu	37	10	98744054	98744054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98744054C>T	ENST00000286067.2	+	1	3014	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	969										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCAGCCCCGGCCCTAATTCTG	0.483																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(2905-2907)ggC>ggT		chromosome 10 open reading frame 12							77.0	85.0	82.0					10																	98744054		2203	4298	6501	SO:0001819	synonymous_variant	26148							g.chr10:98744054C>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2907C>T	10.37:g.98744054C>T							p.G969G	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3014	+		Colorectal(252;0.172)	969					Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	c.2907C>T	CCDS7452.1																																																																																				0.483	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		112	531	0	0	0	1	0	112	531				
CRYGS	1427	broad.mit.edu	37	3	186256636	186256636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186256636G>A	ENST00000392499.2	-	4	725	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CRYGS_ENST00000307944.5_Missense_Mutation_p.S129F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	129	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CACCTTACAGGAGTGGATCTC	0.488																																						ENST00000392499.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(385-387)tCc>tTc		crystallin, gamma S							92.0	85.0	87.0					3																	186256636		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186256636G>A		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.386C>T	3.37:g.186256636G>A	ENSP00000376287:p.Ser129Phe					CRYGS_ENST00000307944.5_Missense_Mutation_p.S129F	p.S129F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	4	725	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		129			Beta/gamma crystallin 'Greek key' 3.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.386C>T	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944380	0.92593	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	D;D	0.93426	-3.22;-3.22	5.95	5.95	0.96441	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.082064	0.49916	U	0.000131	D	0.98077	0.9366	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98985	1.0806	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	129	P22914	CRBS_HUMAN	F	129	ENSP00000376287:S129F;ENSP00000312099:S129F	ENSP00000312099:S129F	S	-	2	0	CRYGS	187739330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.825000	0.97269	0.655000	0.94253	TCC		0.488	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		6	238	0	0	0	1	0	6	238				
GTF2F1	2962	broad.mit.edu	37	19	6389591	6389591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6389591C>T	ENST00000394456.5	-	4	654	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	64					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCGCCCGATTCGGGCATCTCC	0.612																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(190-192)Gaa>Aaa		general transcription factor IIF, polypeptide 1, 74kDa							131.0	137.0	135.0					19																	6389591		2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389591C>T		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.190G>A	19.37:g.6389591C>T	ENSP00000377969:p.Glu64Lys					GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K|CTB-180A7.6_ENST00000599584.1_RNA	p.E64K	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			4	654	-			64					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.190G>A	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030796	0.19590	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.46451	0.87;0.87	5.43	4.39	0.52855	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.053321	0.64402	D	0.000001	T	0.40247	0.1109	L	0.39514	1.22	0.58432	D	0.999998	B;B	0.34329	0.121;0.449	B;B	0.41571	0.051;0.36	T	0.12811	-1.0533	10	0.19590	T	0.45	-44.0396	15.1046	0.72310	0.0:0.8573:0.1427:0.0	.	36;64	E7EUG6;P35269	.;T2FA_HUMAN	K	64;36;124;37;64	ENSP00000377969:E64K;ENSP00000392107:E36K	ENSP00000377969:E64K	E	-	1	0	GTF2F1	6340591	1.000000	0.71417	0.826000	0.32828	0.013000	0.08279	5.432000	0.66514	1.283000	0.44513	-0.176000	0.13171	GAA		0.612	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		111	1045	0	0	0	1	0	111	1045				
HDAC9	9734	broad.mit.edu	37	7	18801889	18801889	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18801889G>T	ENST00000432645.2	+	14	2144	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M|HDAC9_ENST00000406451.4_Missense_Mutation_p.R715M|HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	715	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGGACCCCAGGATACTCCTA	0.507																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2143-2145)aGg>aTg		histone deacetylase 9	Valproic Acid(DB00313)						53.0	54.0	53.0					7																	18801889		1956	4143	6099	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18801889G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2144G>T	7.37:g.18801889G>T	ENSP00000410337:p.Arg715Met					HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M|HDAC9_ENST00000432645.2_Missense_Mutation_p.R715M|HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M	p.R715M	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			15	2294	+	all_lung(11;0.187)		715			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2144G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796699	0.70567	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.56	5.56	0.83823	Histone deacetylase domain (2);	0.076195	0.56097	D	0.000031	T	0.72326	0.3446	L	0.53729	1.69	0.80722	D	1	P;P;P;P;P;P	0.47191	0.63;0.891;0.891;0.801;0.891;0.801	B;P;P;P;P;P	0.53988	0.205;0.621;0.621;0.739;0.621;0.628	T	0.72357	-0.4318	10	0.51188	T	0.08	-18.5514	13.1596	0.59537	0.0732:0.0:0.9268:0.0	.	715;674;718;715;715;693	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	M	715;674;715;718;627	ENSP00000384657:R715M;ENSP00000383912:R674M;ENSP00000410337:R715M;ENSP00000408617:R718M	ENSP00000339165:R627M	R	+	2	0	HDAC9	18768414	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.175000	0.58263	2.776000	0.95493	0.655000	0.94253	AGG		0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			25	109	1	0	1.42536e-11	1	1.52187e-11	25	109				
DSCAM	1826	broad.mit.edu	37	21	42080507	42080507	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42080507G>A	ENST00000400454.1	-	2	711	c.234C>T	c.(232-234)aaC>aaT	p.N78N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	78	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGAGTGCCGTTGGGGTGGA	0.522																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(232-234)aaC>aaT		Down syndrome cell adhesion molecule							98.0	100.0	99.0					21																	42080507		1947	4144	6091	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42080507G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.234C>T	21.37:g.42080507G>A							p.N78N	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			2	711	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	78			Ig-like C2-type 1.		O60468	Silent	SNP	ENST00000400454.1	37	c.234C>T	CCDS42929.1																																																																																				0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		168	366	0	0	0	1	0	168	366				
CNTNAP5	129684	broad.mit.edu	37	2	125530375	125530375	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530375G>A	ENST00000431078.1	+	17	2894		c.e17-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCGGTTTCAGCTCCTTCAGA	0.458																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.e17-1		contactin associated protein-like 5							141.0	129.0	133.0					2																	125530375		1932	4129	6061	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530375G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2531-1G>A	2.37:g.125530375G>A								NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2894	+								Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37		CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454110	0.84209	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3771	0.90439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125246845	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.304000	0.96190	2.594000	0.87642	0.645000	0.84053	.		0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Intron	72	196	0	0	0	1	0	72	196				
TPP1	1200	broad.mit.edu	37	11	6637890	6637890	+	Splice_Site	SNP	A	A	G	rs112046417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637890A>G	ENST00000299427.6	-	7	947		c.e7+1		RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_Splice_Site|TPP1_ENST00000534644.1_5'Flank	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I						embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TCTTGGTAGTACCAGGGCTAC	0.582																																						ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e6+1		tripeptidyl peptidase I							75.0	73.0	74.0					11																	6637890		2201	4296	6497	SO:0001630	splice_region_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6637890A>G	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.886+1T>C	11.37:g.6637890A>G						TPP1_ENST00000299427.6_Splice_Site				O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	6	956	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)						Q71V64	Splice_Site	SNP	ENST00000299427.6	37		CCDS7770.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560786	0.45590	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9135	0.52753	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPP1	6594466	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.578000	0.90777	1.711000	0.51337	0.374000	0.22700	.		0.582	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2		Intron	65	313	0	0	0	1	0	65	313				
IQCH	64799	broad.mit.edu	37	15	67768123	67768123	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000360277.4_Silent_p.I583I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	922										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCTCCAGATCTGTAGGGCCC	0.502																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2764-2766)atC>atA		IQ motif containing H							151.0	122.0	132.0					15																	67768123		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67768123C>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2766C>A	15.37:g.67768123C>A						IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH_ENST00000360277.4_Silent_p.I583I|IQCH-AS1_ENST00000559298.1_lincRNA	p.I922I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	18	2832	+			922					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.2766C>A	CCDS32273.1																																																																																				0.502	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		70	251	1	0	2.18329e-32	1	2.57781e-32	70	251				
SLC6A11	6538	broad.mit.edu	37	3	10976731	10976731	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10976731T>G	ENST00000254488.2	+	13	1658	c.1592T>G	c.(1591-1593)tTc>tGc	p.F531C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	531					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TTCATCTTCTTCTTGATCAAG	0.582																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1591-1593)tTc>tGc		solute carrier family 6 (neurotransmitter transporter), member 11							150.0	138.0	142.0					3																	10976731		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10976731T>G	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1592T>G	3.37:g.10976731T>G	ENSP00000254488:p.Phe531Cys						p.F531C	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	13	1658	+			531					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1592T>G	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927541	0.52759	.	.	ENSG00000132164	ENST00000254488	T	0.74526	-0.85	4.05	4.05	0.47172	.	0.184815	0.47093	D	0.000249	T	0.72653	0.3487	L	0.29908	0.895	0.80722	D	1	B	0.33266	0.404	P	0.49637	0.617	T	0.74127	-0.3765	10	0.66056	D	0.02	.	8.2501	0.31712	0.0:0.09:0.0:0.91	.	531	P48066	S6A11_HUMAN	C	531	ENSP00000254488:F531C	ENSP00000254488:F531C	F	+	2	0	SLC6A11	10951731	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.595000	0.36708	1.840000	0.53500	0.533000	0.62120	TTC		0.582	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		119	530	0	0	0	1	0	119	530				
COL1A2	1278	broad.mit.edu	37	7	94052429	94052429	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94052429C>T	ENST00000297268.6	+	40	3035	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	855			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGTACTGCTGTAAGTGAT	0.473										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.e40+1		collagen, type I, alpha 2	Collagenase(DB00048)						109.0	100.0	103.0					7																	94052429		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052429C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2565+1C>T	7.37:g.94052429C>T		HNSCC(75;0.22)					p.A855_splice	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	3035	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		855		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37	c.2565_splice	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583147	0.65992	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.95821	-3.82	5.32	5.32	0.75619	.	0.258640	0.37530	N	0.002045	D	0.91653	0.7362	N	0.17872	0.535	0.54753	D	0.999987	B	0.10296	0.003	B	0.06405	0.002	D	0.86848	0.2021	10	0.51188	T	0.08	.	19.4034	0.94640	0.0:1.0:0.0:0.0	.	855	P08123	CO1A2_HUMAN	V	855;856	ENSP00000297268:A855V	ENSP00000297268:A855V	A	+	2	0	COL1A2	93890365	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.158000	0.42329	2.662000	0.90505	0.563000	0.77884	GCT		0.473	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Missense_Mutation	94	390	0	0	0	1	0	94	390				
ZNF521	25925	broad.mit.edu	37	18	22902012	22902012	+	Silent	SNP	G	G	A	rs185598321		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22902012G>A	ENST00000361524.3	-	3	328	c.180C>T	c.(178-180)agC>agT	p.S60S	ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	60					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGTGATATCGCTCAGCGATT	0.428			T	PAX5	ALL								g|||	1	0.000199681	0.0	0.0014	5008	,	,		18225	0.0		0.0	False		,,,				2504	0.0					ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(178-180)agC>agT		zinc finger protein 521		A		0,4406		0,0,2203	144.0	128.0	133.0		180	3.3	1.0	18		133	1,8599		0,1,4299	no	coding-synonymous	ZNF521	NM_015461.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		60/1312	22902012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22902012G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.180C>T	18.37:g.22902012G>A						ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000579111.1_5'UTR	p.S60S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			3	328	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		60					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.180C>T	CCDS32806.1																																																																																				0.428	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		88	433	0	0	0	1	0	88	433				
RFX4	5992	broad.mit.edu	37	12	107126802	107126802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107126802G>A	ENST00000392842.1	+	15	1986	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	RFX4_ENST00000357881.4_Silent_p.V533V|RFX4_ENST00000229387.5_Silent_p.V430V|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	524					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTGGAAGTGCCACCTCCCT	0.502																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1570-1572)gtG>gtA		regulatory factor X, 4 (influences HLA class II expression)							163.0	148.0	153.0					12																	107126802		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107126802G>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1572G>A	12.37:g.107126802G>A						RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Silent_p.V430V|RFX4_ENST00000357881.4_Silent_p.V533V	p.V524V	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			15	1986	+			524					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.1572G>A	CCDS9106.1																																																																																				0.502	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		129	588	0	0	0	1	0	129	588				
DPPA3P2	400206	broad.mit.edu	37	14	36840771	36840771	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36840771A>C	ENST00000557188.1	+	0	402									developmental pluripotency associated 3 pseudogene 2																		CTAGTAGCGAATCTGTTTCCC	0.498																																						ENST00000557188.1																			0																																																			0							g.chr14:36840771A>C			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36840771A>C														0	402	+									RNA	SNP	ENST00000557188.1	37																																																																																						0.498	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			25	88	0	0	0	1	0	25	88				
ADD2	119	broad.mit.edu	37	2	70918003	70918003	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70918003T>C	ENST00000264436.4	-	8	1208	c.764A>G	c.(763-765)gAc>gGc	p.D255G	ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|ADD2_ENST00000407644.2_Missense_Mutation_p.D255G|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	255					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATAGGCCATGTCCCCCACCAG	0.562																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(763-765)gAc>gGc		adducin 2 (beta)							92.0	79.0	83.0					2																	70918003		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70918003T>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.764A>G	2.37:g.70918003T>C	ENSP00000264436:p.Asp255Gly					AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G|ADD2_ENST00000407644.2_Missense_Mutation_p.D255G	p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			8	1208	-			255					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.764A>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798004	0.90538	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.43	5.43	0.79202	Class II aldolase/adducin, N-terminal (3);	0.099608	0.64402	D	0.000002	T	0.44705	0.1306	L	0.56280	1.765	0.58432	D	0.999995	D;B;B;D	0.60575	0.988;0.313;0.363;0.969	D;B;B;P	0.66979	0.948;0.087;0.217;0.69	T	0.38351	-0.9665	10	0.87932	D	0	-37.6637	13.4827	0.61345	0.0:0.0:0.0:1.0	.	271;255;255;255	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	G	255;255;255;255;255;255;271	ENSP00000264436:D255G;ENSP00000384677:D255G;ENSP00000347972:D255G;ENSP00000388072:D255G;ENSP00000398112:D271G	ENSP00000264436:D255G	D	-	2	0	ADD2	70771511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.879000	0.63100	2.277000	0.76020	0.528000	0.53228	GAC		0.562	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		37	316	0	0	0	1	0	37	316				
KCTD1	284252	broad.mit.edu	37	18	24056620	24056620	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24056620G>A	ENST00000408011.3	-	3	727	c.168C>T	c.(166-168)atC>atT	p.I56I	KCTD1_ENST00000317932.7_Silent_p.I56I|KCTD1_ENST00000417602.1_Silent_p.I664I|KCTD1_ENST00000579973.1_Silent_p.I56I|KCTD1_ENST00000580059.1_Silent_p.I56I	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	56	BTB.				negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			AAAGTCTTCCGATTCTGTGAT	0.388																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(1990-1992)atC>atT		potassium channel tetramerization domain containing 1							85.0	73.0	77.0					18																	24056620		2203	4300	6503	SO:0001819	synonymous_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24056620G>A	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.168C>T	18.37:g.24056620G>A						KCTD1_ENST00000408011.3_Silent_p.I56I|KCTD1_ENST00000580059.1_Silent_p.I56I|KCTD1_ENST00000317932.7_Silent_p.I56I|KCTD1_ENST00000579973.1_Silent_p.I56I	p.I664I	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		3	1991	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		56					A8K1F5	Silent	SNP	ENST00000408011.3	37	c.1992C>T	CCDS11888.1																																																																																				0.388	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		40	122	0	0	0	1	0	40	122				
LTN1	26046	broad.mit.edu	37	21	30338786	30338786	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30338786T>G	ENST00000361371.5	-	10	2106	c.2027A>C	c.(2026-2028)aAg>aCg	p.K676T	LTN1_ENST00000389194.2_Missense_Mutation_p.K722T|LTN1_ENST00000389195.2_Missense_Mutation_p.K722T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	676					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACCAAAATCCTTCCTTTGATC	0.398																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(2026-2028)aAg>aCg		listerin E3 ubiquitin protein ligase 1							97.0	98.0	97.0					21																	30338786		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30338786T>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2027A>C	21.37:g.30338786T>G	ENSP00000354977:p.Lys676Thr					LTN1_ENST00000389195.2_Missense_Mutation_p.K722T|LTN1_ENST00000389194.2_Missense_Mutation_p.K722T	p.K676T	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	2177	-			676					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.2027A>C		.	.	.	.	.	.	.	.	.	.	T	10.24	1.296501	0.23650	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.64803	2.19;2.2;-0.12	5.13	5.13	0.70059	.	0.376195	0.30101	N	0.010405	T	0.46541	0.1398	N	0.14661	0.345	0.31171	N	0.703152	B	0.17465	0.022	B	0.10450	0.005	T	0.50355	-0.8838	10	0.39692	T	0.17	.	15.4	0.74830	0.0:0.0:0.0:1.0	.	676	O94822	LTN1_HUMAN	T	722;676;722	ENSP00000373846:K722T;ENSP00000354977:K676T;ENSP00000373847:K722T	ENSP00000354977:K676T	K	-	2	0	LTN1	29260657	0.996000	0.38824	0.364000	0.25888	0.791000	0.44710	2.304000	0.43655	2.281000	0.76405	0.528000	0.53228	AAG		0.398	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		77	370	0	0	0	1	0	77	370				
LRRIQ4	344657	broad.mit.edu	37	3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(763-765)Gag>Aag		leucine-rich repeats and IQ motif containing 4							33.0	36.0	35.0					3																	169540472		1994	4159	6153	SO:0001583	missense	344657							g.chr3:169540472G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.763G>A	3.37:g.169540472G>A	ENSP00000342188:p.Glu255Lys						p.E255K	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	763	+			255						Missense_Mutation	SNP	ENST00000340806.6	37	c.763G>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755540	0.15846	.	.	ENSG00000188306	ENST00000340806	T	0.56275	0.47	5.56	0.0324	0.14175	.	1.620940	0.03327	N	0.192807	T	0.23688	0.0573	N	0.02854	-0.475	0.09310	N	1	B	0.31655	0.334	B	0.20955	0.032	T	0.19257	-1.0311	10	0.05721	T	0.95	.	9.5188	0.39122	0.1905:0.534:0.2755:0.0	.	255	A6NIV6	LRIQ4_HUMAN	K	255	ENSP00000342188:E255K	ENSP00000342188:E255K	E	+	1	0	LRRIQ4	171023166	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.155000	0.16362	-0.357000	0.08175	0.462000	0.41574	GAG		0.607	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		44	188	0	0	0	1	0	44	188				
ELOVL3	83401	broad.mit.edu	37	10	103986348	103986348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103986348T>C	ENST00000370005.3	+	1	264	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	15					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AAATCAGCTGTTCCAGCCCTA	0.532																																						ENST00000370005.3																			0				breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(43-45)Ttc>Ctc		ELOVL fatty acid elongase 3							118.0	98.0	105.0					10																	103986348		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103986348T>C	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.43T>C	10.37:g.103986348T>C	ENSP00000359022:p.Phe15Leu						p.F15L	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	1	264	+		Colorectal(252;0.207)	15					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.43T>C	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	T	5.667	0.307660	0.10733	.	.	ENSG00000119915	ENST00000370005	T	0.20881	2.04	4.62	-1.08	0.09936	.	4.602870	0.00397	N	0.000058	T	0.07638	0.0192	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21314	-1.0249	10	0.06891	T	0.86	.	2.6472	0.04987	0.4086:0.2442:0.0:0.3472	.	15	Q9HB03	ELOV3_HUMAN	L	15	ENSP00000359022:F15L	ENSP00000359022:F15L	F	+	1	0	ELOVL3	103976338	0.000000	0.05858	0.014000	0.15608	0.422000	0.31414	-0.262000	0.08682	-0.015000	0.14150	0.459000	0.35465	TTC		0.532	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		80	405	0	0	0	1	0	80	405				
GPSM1	26086	broad.mit.edu	37	9	139243186	139243186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139243186G>A	ENST00000440944.1	+	10	1465	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	415	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGAGCGCGGAGACCTGGGACC	0.677																																						ENST00000440944.1																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1243-1245)gaG>gaA		G-protein signaling modulator 1							49.0	48.0	48.0					9																	139243186		2198	4299	6497	SO:0001819	synonymous_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139243186G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1245G>A	9.37:g.139243186G>A							p.E415E	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	10	1465	+		Myeloproliferative disorder(178;0.0821)	415			Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	37	c.1245G>A	CCDS48055.1																																																																																				0.677	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		25	108	0	0	0	1	0	25	108				
KIAA1462	57608	broad.mit.edu	37	10	30315768	30315768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315768G>A	ENST00000375377.1	-	3	3410	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1103					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCGCTCTCCGGATGCCCGGCA	0.627																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3307-3309)atC>atT		KIAA1462							58.0	60.0	60.0					10																	30315768		1958	4168	6126	SO:0001819	synonymous_variant	57608							g.chr10:30315768G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3309C>T	10.37:g.30315768G>A							p.I1103I	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3410	-			1103					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.3309C>T	CCDS41500.1																																																																																				0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		157	510	0	0	0	1	0	157	510				
NCAM2	4685	broad.mit.edu	37	21	22746295	22746295	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22746295T>G	ENST00000400546.1	+	9	1406	c.1157T>G	c.(1156-1158)aTt>aGt	p.I386S	NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S|NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	386	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCAAGCAGAATTGGAGGGCAT	0.368																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1156-1158)aTt>aGt		neural cell adhesion molecule 2							174.0	166.0	168.0					21																	22746295		1907	4137	6044	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22746295T>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1157T>G	21.37:g.22746295T>G	ENSP00000383392:p.Ile386Ser					NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S|NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S	p.I386S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	9	1406	+		Lung NSC(9;0.195)	386			Ig-like C2-type 4.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1157T>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594621	0.86953	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.66638	-0.22;-0.22;-0.22	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.984	T	0.76645	-0.2883	10	0.54805	T	0.06	-19.527	14.5628	0.68153	0.0:0.0:0.0:1.0	.	411;244;386	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	386;244;411	ENSP00000383392:I386S;ENSP00000284894:I244S;ENSP00000441887:I411S	ENSP00000284894:I244S	I	+	2	0	NCAM2	21668166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.116000	0.64780	0.524000	0.50904	ATT		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		61	380	0	0	0	1	0	61	380				
NUDCD3	23386	broad.mit.edu	37	7	44467174	44467174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44467174T>G	ENST00000355451.7	-	3	917	c.638A>C	c.(637-639)aAg>aCg	p.K213T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	213	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CATTACCTGCTTTCCCTTCAC	0.567																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(637-639)aAg>aCg		NudC domain containing 3							131.0	118.0	122.0					7																	44467174		2203	4300	6503	SO:0001583	missense	23386							g.chr7:44467174T>G	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.638A>C	7.37:g.44467174T>G	ENSP00000347626:p.Lys213Thr					NUDCD3_ENST00000460110.1_5'UTR	p.K213T	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			3	917	-			213			CS.		Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.638A>C	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059671	0.76074	.	.	ENSG00000015676	ENST00000355451	T	0.53206	0.63	5.78	3.49	0.39957	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.277214	0.38436	N	0.001683	T	0.68467	0.3004	M	0.80422	2.495	0.34906	D	0.746983	B	0.28055	0.199	P	0.57548	0.823	T	0.74000	-0.3805	10	0.72032	D	0.01	-20.7429	6.7428	0.23445	0.0:0.256:0.0:0.744	.	213	Q8IVD9	NUDC3_HUMAN	T	213	ENSP00000347626:K213T	ENSP00000347626:K213T	K	-	2	0	NUDCD3	44433699	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.970000	0.29383	0.505000	0.28104	0.533000	0.62120	AAG		0.567	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		89	416	0	0	0	1	0	89	416				
ZNF530	348327	broad.mit.edu	37	19	58117676	58117676	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58117676C>T	ENST00000332854.6	+	3	1003	c.783C>T	c.(781-783)caC>caT	p.H261H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAAAGCACACGGTAGAACAA	0.438																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(781-783)caC>caT		zinc finger protein 530							90.0	83.0	85.0					19																	58117676		2203	4300	6503	SO:0001819	synonymous_variant	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117676C>T	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.783C>T	19.37:g.58117676C>T						ZNF530_ENST00000597864.1_Intron	p.H261H	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1003	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	261					O43340|Q9P220	Silent	SNP	ENST00000332854.6	37	c.783C>T	CCDS12955.1																																																																																				0.438	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		81	335	0	0	0	1	0	81	335				
NRXN3	9369	broad.mit.edu	37	14	80158534	80158534	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80158534G>A	ENST00000557594.1	+	4	1554				NRXN3_ENST00000554719.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.R207H|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GATAATGAACGCTTCCAAATG	0.328																																						ENST00000428277.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(619-621)cGc>cAc		neurexin 3							60.0	56.0	57.0					14																	80158534		1802	4073	5875	SO:0001627	intron_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80158534G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.602-5439G>A	14.37:g.80158534G>A						NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000554719.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000556003.1_Intron	p.R207H	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1006	+		Renal(4;0.00876)	200			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.620G>A		.	.	.	.	.	.	.	.	.	.	G	17.92	3.507000	0.64410	.	.	ENSG00000021645	ENST00000332068;ENST00000428277	T	0.38240	1.15	5.45	5.45	0.79879	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	D	0.89917	1.0	P	0.57468	0.821	T	0.49399	-0.8944	7	.	.	.	.	13.2797	0.60208	0.0:0.0:0.8417:0.1583	.	207	Q9HDB5-4	.	H	1201;207	ENSP00000394426:R207H	.	R	+	2	0	NRXN3	79228287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.644000	0.83416	2.555000	0.86185	0.650000	0.86243	CGC		0.328	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		30	114	0	0	0	1	0	30	114				
SLC9C1	285335	broad.mit.edu	37	3	111999618	111999618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111999618C>T	ENST00000305815.5	-	3	353	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34Q|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	34					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTCCAAGTGCCGGTTCAAAAA	0.323																																						ENST00000305815.5																			0											c.(100-102)cGg>cAg		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							60.0	63.0	62.0					3																	111999618		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111999618C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.101G>A	3.37:g.111999618C>T	ENSP00000306627:p.Arg34Gln					SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34Q|SLC9C1_ENST00000467397.1_5'UTR	p.R34Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			3	353	-			34					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.101G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717899	0.15372	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77620	-1.11;-1.08	5.65	0.661	0.17874	Cation/H+ exchanger (1);	1.087840	0.07143	N	0.847775	T	0.46833	0.1413	N	0.02011	-0.69	0.09310	N	1	B;B	0.21520	0.057;0.001	B;B	0.12837	0.008;0.0	T	0.32508	-0.9904	10	0.27785	T	0.31	.	0.8922	0.01256	0.5032:0.1675:0.1715:0.1578	.	34;34	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	34	ENSP00000306627:R34Q;ENSP00000420688:R34Q	ENSP00000306627:R34Q	R	-	2	0	SLC9A10	113482308	0.213000	0.23551	0.447000	0.26932	0.947000	0.59692	0.504000	0.22626	0.094000	0.17404	-0.513000	0.04457	CGG		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		29	148	0	0	0	1	0	29	148				
TP63	8626	broad.mit.edu	37	3	189349340	189349340	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349340G>A	ENST00000264731.3	+	1	125	c.36G>A	c.(34-36)caG>caA	p.Q12Q	TP63_ENST00000440651.2_Silent_p.Q12Q|TP63_ENST00000320472.5_Silent_p.Q12Q|TP63_ENST00000382063.4_Silent_p.Q12Q|TP63_ENST00000418709.2_Silent_p.Q12Q|TP63_ENST00000392460.3_Silent_p.Q12Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	12	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCCTACAGTACTGCCCTG	0.383										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(34-36)caG>caA		tumor protein p63							175.0	163.0	167.0					3																	189349340		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349340G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.36G>A	3.37:g.189349340G>A		HNSCC(45;0.13)				TP63_ENST00000392460.3_Silent_p.Q12Q|TP63_ENST00000320472.5_Silent_p.Q12Q|TP63_ENST00000440651.2_Silent_p.Q12Q|TP63_ENST00000418709.2_Silent_p.Q12Q|TP63_ENST00000382063.4_Silent_p.Q12Q	p.Q12Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	125	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		12			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.36G>A	CCDS3293.1																																																																																				0.383	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		127	681	0	0	0	1	0	127	681				
UNC13A	23025	broad.mit.edu	37	19	17751421	17751421	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17751421C>T	ENST00000519716.2	-	22	2685	c.2686G>A	c.(2686-2688)Gtc>Atc	p.V896I	UNC13A_ENST00000550896.1_Missense_Mutation_p.V894I|UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I|UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I|UNC13A_ENST00000428389.2_Missense_Mutation_p.V984I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	896					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGCTCATGACGGCAGGCACC	0.627																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2950-2952)Gtc>Atc		unc-13 homolog A (C. elegans)							71.0	81.0	78.0					19																	17751421		2193	4286	6479	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17751421C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2686G>A	19.37:g.17751421C>T	ENSP00000429562:p.Val896Ile					UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V894I|UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I|UNC13A_ENST00000519716.2_Missense_Mutation_p.V896I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I	p.V984I			Q9UPW8	UN13A_HUMAN			23	2949	-			896					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2950G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951123	0.73787	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.83419	-1.7;-1.72;-1.7;-1.56;-1.57;-1.71	3.28	3.28	0.37604	.	0.156800	0.41294	U	0.000915	D	0.82296	0.5006	M	0.78049	2.395	0.51482	D	0.999924	P	0.41569	0.755	B	0.39876	0.312	D	0.85414	0.1139	10	0.66056	D	0.02	-28.8359	12.4632	0.55743	0.0:1.0:0.0:0.0	.	896	Q9UPW8	UN13A_HUMAN	I	896;984;896;896;896;894	ENSP00000429562:V896I;ENSP00000400409:V984I;ENSP00000252773:V896I;ENSP00000447236:V896I;ENSP00000447572:V896I;ENSP00000446831:V894I	ENSP00000252773:V896I	V	-	1	0	UNC13A	17612421	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.340000	0.79292	1.842000	0.53543	0.186000	0.17326	GTC		0.627	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	25	0	0	0	1	0	5	25				
DST	667	broad.mit.edu	37	6	56505335	56505335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56505335C>T	ENST00000361203.3	-	14	1470	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000312431.6_Missense_Mutation_p.R488H|DST_ENST00000370769.4_Missense_Mutation_p.R488H|DST_ENST00000370754.5_Missense_Mutation_p.R666H|DST_ENST00000518935.1_Missense_Mutation_p.R162H			Q03001	DYST_HUMAN	dystonin	488					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCAGTATGCGTCCTTTGCT	0.423																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(1996-1998)cGc>cAc		dystonin							110.0	108.0	108.0					6																	56505335		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505335C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1463G>A	6.37:g.56505335C>T	ENSP00000354508:p.Arg488His					DST_ENST00000370769.4_Missense_Mutation_p.R488H|DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000312431.6_Missense_Mutation_p.R488H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000361203.3_Missense_Mutation_p.R488H|DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000518935.1_Missense_Mutation_p.R162H	p.R666H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	1996	-	Lung NSC(77;0.103)		488					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.1997G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.000343	0.74818	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.65	5.65	0.86999	.	0.111620	0.40554	N	0.001064	D	0.87358	0.6157	N	0.11064	0.09	0.28576	N	0.910365	B;B;D;B;B;B;P;D;B;D	0.89917	0.021;0.135;1.0;0.135;0.257;0.027;0.733;0.992;0.135;0.976	B;B;D;B;B;B;B;P;B;P	0.78314	0.004;0.019;0.991;0.019;0.039;0.007;0.163;0.795;0.019;0.548	D	0.84741	0.0751	9	0.15952	T	0.53	.	13.5198	0.61561	0.0:0.9205:0.0:0.0795	.	517;488;488;666;604;162;162;162;488;162	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	H	162;666;488;488;162;488;488;488;162;528;162;162;666	ENSP00000244364:R162H;ENSP00000359790:R666H;ENSP00000359805:R488H;ENSP00000400883:R488H;ENSP00000393645:R162H;ENSP00000307959:R488H;ENSP00000359824:R488H;ENSP00000354508:R488H;ENSP00000404924:R162H;ENSP00000431030:R528H;ENSP00000359801:R162H;ENSP00000431003:R162H;ENSP00000393082:R666H	ENSP00000244364:R162H	R	-	2	0	DST	56613294	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	2.398000	0.44486	2.941000	0.99782	0.655000	0.94253	CGC		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		96	445	0	0	0	1	0	96	445				
POTEE	445582	broad.mit.edu	37	2	131984434	131984434	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131984434A>C	ENST00000356920.5	+	4	943	c.849A>C	c.(847-849)caA>caC	p.Q283H	POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H|RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	283					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TACATGAGCAAAAACAGCAAG	0.323																																						ENST00000356920.5																			0											c.(847-849)caA>caC		POTE ankyrin domain family, member E							93.0	109.0	103.0					2																	131984434		1499	2703	4202	SO:0001583	missense	445582						ATP binding	g.chr2:131984434A>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.849A>C	2.37:g.131984434A>C	ENSP00000439189:p.Gln283His					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H|PLEKHB2_ENST00000404460.1_Intron	p.Q283H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			4	943	+			283					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.849A>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249627	0.22880	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.53206	0.63;0.63	1.16	-1.78	0.07957	Ankyrin repeat-containing domain (4);	1.304430	0.06078	U	0.661422	T	0.24736	0.0600	N	0.17082	0.46	0.09310	N	1	P	0.44309	0.832	B	0.34824	0.19	T	0.17018	-1.0383	10	0.87932	D	0	.	3.0083	0.06035	0.3104:0.3972:0.2924:0.0	.	283	Q6S8J3	POTEE_HUMAN	H	283;293	ENSP00000439189:Q283H;ENSP00000443049:Q293H	ENSP00000439189:Q283H	Q	+	3	2	AC131180.1	131700904	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-1.876000	0.01633	-0.490000	0.06707	0.136000	0.15936	CAA		0.323	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		116	595	0	0	0	1	0	116	595				
TRPV2	51393	broad.mit.edu	37	17	16340106	16340106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16340106C>T	ENST00000338560.7	+	15	2597	c.2198C>T	c.(2197-2199)aCt>aTt	p.T733I	C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	733					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTACAGGAACTCTCGAGAAC	0.552																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2197-2199)aCt>aTt		transient receptor potential cation channel, subfamily V, member 2							186.0	160.0	169.0					17																	16340106		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16340106C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2198C>T	17.37:g.16340106C>T	ENSP00000342222:p.Thr733Ile					TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I	p.T733I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	15	2597	+			733					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2198C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	5.905	0.350976	0.11182	.	.	ENSG00000187688	ENST00000338560	D	0.88201	-2.35	3.73	0.454	0.16644	.	1.775310	0.03096	N	0.160447	T	0.80686	0.4670	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.61888	-0.6970	10	0.22109	T	0.4	-23.241	1.9786	0.03421	0.2164:0.4745:0.1926:0.1165	.	733	Q9Y5S1	TRPV2_HUMAN	I	733	ENSP00000342222:T733I	ENSP00000342222:T733I	T	+	2	0	TRPV2	16280831	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.164000	0.16542	0.141000	0.18875	0.561000	0.74099	ACT		0.552	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		96	465	0	0	0	1	0	96	465				
MACROD1	28992	broad.mit.edu	37	11	63883842	63883842	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63883842C>A	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.L35M	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCGGGACTGGCTGTTCCTCTG	0.652																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(103-105)Ctg>Atg		fibronectin leucine rich transmembrane protein 1							116.0	64.0	81.0					11																	63883842		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63883842C>A	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34868G>T	11.37:g.63883842C>A						MACROD1_ENST00000255681.6_Intron	p.L35M	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1146	+			7			LRRNT.		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.103C>A	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544389	0.65198	.	.	ENSG00000126500	ENST00000246841	T	0.56776	0.44	5.4	4.48	0.54585	.	0.220980	0.29537	N	0.011865	T	0.66839	0.2830	M	0.67397	2.05	0.52501	D	0.999958	D	0.65815	0.995	P	0.62298	0.9	T	0.70081	-0.4970	10	0.72032	D	0.01	-13.9043	13.3834	0.60783	0.0:0.9211:0.0:0.0789	.	7	Q9NZU1	FLRT1_HUMAN	M	35	ENSP00000246841:L35M	ENSP00000246841:L35M	L	+	1	2	FLRT1	63640418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.440000	0.44855	2.537000	0.85549	0.561000	0.74099	CTG		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		33	105	1	0	8.4185e-14	1	9.11178e-14	33	105				
GSE1	23199	broad.mit.edu	37	16	85690962	85690962	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85690962G>A	ENST00000253458.7	+	8	1568	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	GSE1_ENST00000405402.2_Silent_p.T360T|RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000393243.1_Silent_p.T391T	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	464																	CACACCACACGGTGCCCAGCC	0.632																																						ENST00000253458.7																			0											c.(1390-1392)acG>acA		Gse1 coiled-coil protein							66.0	56.0	59.0					16																	85690962		2197	4299	6496	SO:0001819	synonymous_variant	23199							g.chr16:85690962G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1392G>A	16.37:g.85690962G>A						GSE1_ENST00000405402.2_Silent_p.T360T|GSE1_ENST00000393243.1_Silent_p.T391T	p.T464T	NM_014615.2	NP_055430.1					8	1568	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.1392G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	2.896	-0.228678	0.06022	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.07	-10.1	0.00402	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.50632	D	0.999886	.	.	.	.	.	.	T	0.43925	-0.9361	4	.	.	.	-0.2401	2.2276	0.03988	0.233:0.1632:0.3746:0.2292	.	.	.	.	Q	271	.	.	R	+	2	0	KIAA0182	84248463	0.000000	0.05858	0.001000	0.08648	0.471000	0.32888	-4.634000	0.00205	-3.194000	0.00219	-0.311000	0.09066	CGG		0.632	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		84	395	0	0	0	1	0	84	395				
GPR107	57720	broad.mit.edu	37	9	132848734	132848734	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132848734T>C	ENST00000372406.1	+	7	1107	c.600T>C	c.(598-600)aaT>aaC	p.N200N	GPR107_ENST00000347136.6_Silent_p.N200N|GPR107_ENST00000372410.3_Silent_p.N200N	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	200						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCATAATAATGGTGGGGCAG	0.348																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(598-600)aaT>aaC		G protein-coupled receptor 107							200.0	194.0	196.0					9																	132848734		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr9:132848734T>C	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.600T>C	9.37:g.132848734T>C						GPR107_ENST00000347136.6_Silent_p.N200N|GPR107_ENST00000372410.3_Silent_p.N200N	p.N200N	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			7	1107	+		Ovarian(14;0.000531)	200					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	c.600T>C	CCDS48041.1																																																																																				0.348	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			87	421	0	0	0	1	0	87	421				
CAPN15	6650	broad.mit.edu	37	16	598072	598072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:598072C>T	ENST00000219611.2	+	4	1597	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	412					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCTGCCCGAGCGCCCGGGCCA	0.746																																						ENST00000219611.2																			0											c.(1234-1236)Cgc>Tgc		calpain 15							3.0	4.0	4.0					16																	598072		1817	3697	5514	SO:0001583	missense	6650							g.chr16:598072C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1234C>T	16.37:g.598072C>T	ENSP00000219611:p.Arg412Cys					LA16c-366D1.3_ENST00000565879.1_RNA	p.R412C	NM_005632.2	NP_005623.1					4	1597	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.1234C>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	9.974	1.226251	0.22542	.	.	ENSG00000103326	ENST00000219611	T	0.64085	-0.08	4.61	3.65	0.41850	Zinc finger, RanBP2-type (2);	1.143940	0.06453	N	0.728041	T	0.59418	0.2192	L	0.51422	1.61	0.38221	D	0.940767	B	0.18310	0.027	B	0.09377	0.004	T	0.47699	-0.9097	10	0.49607	T	0.09	.	11.5354	0.50634	0.0:0.9106:0.0:0.0894	.	412	O75808	CAN15_HUMAN	C	412	ENSP00000219611:R412C	ENSP00000219611:R412C	R	+	1	0	SOLH	538073	0.038000	0.19896	0.618000	0.29105	0.215000	0.24574	1.291000	0.33330	0.934000	0.37316	0.486000	0.48141	CGC		0.746	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		8	30	0	0	0	1	0	8	30				
RNF217-AS1	7955	broad.mit.edu	37	6	125233387	125233387	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:125233387C>T	ENST00000439075.1	-	0	1358					NR_026876.1																						CTCCTAGGAGCTCCATGGTAT	0.393																																						ENST00000439075.1																			0																				68.0	67.0	67.0					6																	125233387		876	1991	2867			0							g.chr6:125233387C>T																													6.37:g.125233387C>T								NR_026876.1						0	1358	-									RNA	SNP	ENST00000439075.1	37																																																																																						0.393	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			38	166	0	0	0	1	0	38	166				
KLHL22	84861	broad.mit.edu	37	22	20800760	20800760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20800760G>A	ENST00000328879.4	-	6	1665	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	KLHL22_ENST00000440659.2_Silent_p.N360N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	503					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCCGGCATCGTTGTTGCTGC	0.597																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1507-1509)aaC>aaT		kelch-like family member 22							86.0	70.0	76.0					22																	20800760		2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800760G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1509C>T	22.37:g.20800760G>A						KLHL22_ENST00000440659.2_Silent_p.N360N	p.N503N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1665	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	503					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.1509C>T	CCDS13780.1																																																																																				0.597	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		28	152	0	0	0	1	0	28	152				
ABCA12	26154	broad.mit.edu	37	2	215820074	215820074	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215820074A>G	ENST00000272895.7	-	43	6464	c.6245T>C	c.(6244-6246)tTt>tCt	p.F2082S	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2082					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATCCAGGAAAATGTTGCATA	0.438																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6244-6246)tTt>tCt		ATP-binding cassette, sub-family A (ABC1), member 12							78.0	72.0	74.0					2																	215820074		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215820074A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6245T>C	2.37:g.215820074A>G	ENSP00000272895:p.Phe2082Ser					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S	p.F2082S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	43	6464	-		Renal(323;0.127)	2082					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6245T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718292	0.89205	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82803	-1.65;-1.65	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.90150	0.6922	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.974	D	0.90896	0.4765	10	0.66056	D	0.02	.	16.2002	0.82067	1.0:0.0:0.0:0.0	.	2082;1764	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2082;1764	ENSP00000272895:F2082S;ENSP00000374312:F1764S	ENSP00000272895:F2082S	F	-	2	0	ABCA12	215528319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.285000	0.76669	0.528000	0.53228	TTT		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		92	279	0	0	0	1	0	92	279				
RBM48	84060	broad.mit.edu	37	7	92163909	92163909	+	Silent	SNP	C	C	T	rs376908850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92163909C>T	ENST00000265732.5	+	4	683	c.642C>T	c.(640-642)tcC>tcT	p.S214S	RBM48_ENST00000481551.1_Silent_p.S214S	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	214						nucleus (GO:0005634)	RNA binding (GO:0003723)										TGTGTTCATCCGGGGGACCTG	0.423																																						ENST00000481551.1																			0											c.(640-642)tcC>tcT		RNA binding motif protein 48		C		1,3743		0,1,1871	132.0	117.0	122.0		642	-1.8	0.0	7		122	0,8210		0,0,4105	no	coding-synonymous	C7orf64	NM_032120.2		0,1,5976	TT,TC,CC		0.0,0.0267,0.0084		214/368	92163909	1,11953	1872	4105	5977	SO:0001819	synonymous_variant	84060						nucleotide binding	g.chr7:92163909C>T	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.642C>T	7.37:g.92163909C>T						RBM48_ENST00000265732.5_Silent_p.S214S	p.S214S			Q5RL73	CG064_HUMAN			4	683	+			214					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	c.642C>T	CCDS43615.1																																																																																				0.423	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		42	281	0	0	0	1	0	42	281				
POMK	84197	broad.mit.edu	37	8	42977294	42977294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42977294G>T	ENST00000331373.5	+	5	582	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										CACTCTCACAGCTCACCAGCC	0.488																																						ENST00000331373.5																			0											c.(325-327)caG>caT									125.0	113.0	117.0					8																	42977294		2203	4300	6503	SO:0001583	missense	0					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977294G>T		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.327G>T	8.37:g.42977294G>T	ENSP00000331258:p.Gln109His						p.Q109H	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			5	582	+			109			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.327G>T	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535902	0.45176	.	.	ENSG00000185900	ENST00000518991;ENST00000331373	T;T	0.73681	-0.77;1.96	5.77	3.91	0.45181	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.573927	0.19123	N	0.122135	T	0.71367	0.3331	L	0.56340	1.77	0.21184	N	0.999764	P	0.45594	0.862	P	0.51355	0.667	T	0.58289	-0.7662	10	0.13470	T	0.59	-13.1479	4.891	0.13726	0.079:0.151:0.6132:0.1568	.	109	Q9H5K3	SG196_HUMAN	H	109	ENSP00000429090:Q109H;ENSP00000331258:Q109H	ENSP00000331258:Q109H	Q	+	3	2	AC113191.1	43096451	0.451000	0.25705	0.969000	0.41365	0.765000	0.43378	0.566000	0.23593	0.834000	0.34852	-0.182000	0.12963	CAG		0.488	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		84	400	1	0	3.56499e-28	1	4.14352e-28	84	400				
RPL10	6134	broad.mit.edu	37	X	153627922	153627922	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153627922G>A	ENST00000369817.2	+	5	753	c.177G>A	c.(175-177)caG>caA	p.Q59Q	RPL10_ENST00000424325.2_Silent_p.Q59Q|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Silent_p.Q8Q			P27635	RL10_HUMAN	ribosomal protein L10	59					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATATGAGCAGCTGTCCTCTG	0.507																																						ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(175-177)caG>caA		ribosomal protein L10							108.0	106.0	107.0					X																	153627922		2203	4300	6503	SO:0001819	synonymous_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627922G>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.177G>A	X.37:g.153627922G>A						RPL10_ENST00000406022.2_Silent_p.Q8Q|RPL10_ENST00000369817.2_Silent_p.Q59Q	p.Q59Q	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			4	365	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		59					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Silent	SNP	ENST00000369817.2	37	c.177G>A	CCDS14746.1																																																																																				0.507	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		122	365	0	0	0	1	0	122	365				
WIF1	11197	broad.mit.edu	37	12	65462580	65462580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65462580G>T	ENST00000286574.4	-	4	876	c.502C>A	c.(502-504)Cct>Act	p.P168T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	168	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCATTTTGAGGTGTTTGGAGA	0.413			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(502-504)Cct>Act		WNT inhibitory factor 1							194.0	179.0	184.0					12																	65462580		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65462580G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.502C>A	12.37:g.65462580G>T	ENSP00000286574:p.Pro168Thr						p.P168T	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	4	876	-			168			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.502C>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888886	0.72524	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.41758	0.99;0.99	5.51	5.51	0.81932	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56655	-0.7943	9	.	.	.	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	168	Q9Y5W5	WIF1_HUMAN	T	168;106	ENSP00000286574:P168T;ENSP00000442063:P106T	.	P	-	1	0	WIF1	63748847	1.000000	0.71417	0.970000	0.41538	0.560000	0.35617	8.158000	0.89649	2.758000	0.94735	0.655000	0.94253	CCT		0.413	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			74	367	1	0	5.96624e-29	1	6.96048e-29	74	367				
ARHGAP20	57569	broad.mit.edu	37	11	110501445	110501445	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110501445G>A	ENST00000260283.4	-	4	543	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ARHGAP20_ENST00000524756.1_Silent_p.L64L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000357139.3_Silent_p.L61L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	87	PH.				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)		CCATCAATCAGCAGAGTCCTA	0.463																																						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.(259-261)Ctg>Ttg		Rho GTPase activating protein 20							116.0	114.0	115.0					11																	110501445		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110501445G>A	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.259C>T	11.37:g.110501445G>A						ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000357139.3_Silent_p.L61L|ARHGAP20_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000524756.1_Silent_p.L64L	p.L87L	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	543	-		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)	87			PH.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.259C>T	CCDS31673.1																																																																																				0.463	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		84	400	0	0	0	1	0	84	400				
SPTLC3	55304	broad.mit.edu	37	20	13140767	13140767	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140767G>T	ENST00000399002.2	+	11	1807	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	511					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATACCCGGGAGATGTTAGACA	0.522																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1531-1533)gaG>gaT		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						70.0	72.0	72.0					20																	13140767		1916	4136	6052	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13140767G>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1533G>T	20.37:g.13140767G>T	ENSP00000381968:p.Glu511Asp					SPTLC3_ENST00000378194.4_3'UTR	p.E511D	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			11	1807	+			511					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1533G>T	CCDS13115.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748193|2.748193	0.49257|0.49257	.|.	.|.	ENSG00000172296|ENSG00000172296	ENST00000399002|ENST00000431275	D|.	0.95690|.	-3.78|.	5.77|5.77	2.32|2.32	0.28847|0.28847	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.144611|.	0.64402|.	D|.	0.000009|.	T|T	0.57770|0.57770	0.2076|0.2076	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B|.	0.30664|.	0.289|.	B|.	0.40477|.	0.33|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.51188|.	T|.	0.08|.	-18.9757|-18.9757	6.9744|6.9744	0.24666|0.24666	0.2129:0.0:0.6567:0.1303|0.2129:0.0:0.6567:0.1303	.|.	511|.	Q9NUV7|.	SPTC3_HUMAN|.	D|I	511|109	ENSP00000381968:E511D|.	ENSP00000381968:E511D|.	E|R	+|+	3|2	2|0	SPTLC3|SPTLC3	13088767|13088767	1.000000|1.000000	0.71417|0.71417	0.281000|0.281000	0.24762|0.24762	0.942000|0.942000	0.58702|0.58702	1.695000|1.695000	0.37763|0.37763	0.780000|0.780000	0.33566|0.33566	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.522	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		7	348	1	0	8.12818e-05	1	8.2724e-05	7	348				
RANBP17	64901	broad.mit.edu	37	5	170345732	170345732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170345732G>T	ENST00000523189.1	+	10	1134	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	324					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGATCCAGGTAATTATCA	0.333			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(970-972)Ggt>Tgt		RAN binding protein 17							138.0	134.0	136.0					5																	170345732		2203	4299	6502	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170345732G>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.970G>T	5.37:g.170345732G>T	ENSP00000427975:p.Gly324Cys						p.G324C	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1134	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	324					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.970G>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.104061	0.76983	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.49432	0.78	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.56217	0.1970	L	0.53249	1.67	0.42504	D	0.992947	D	0.62365	0.991	P	0.54759	0.76	T	0.58836	-0.7566	10	0.66056	D	0.02	-15.4537	12.8262	0.57721	0.0754:0.0:0.9246:0.0	.	324	Q9H2T7	RBP17_HUMAN	C	324;220	ENSP00000427975:G324C	ENSP00000373770:G324C	G	+	1	0	RANBP17	170278337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.096000	0.57734	2.712000	0.92718	0.491000	0.48974	GGT		0.333	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		16	221	1	0	1.45105e-14	1	1.57787e-14	16	221				
SYT3	84258	broad.mit.edu	37	19	51133064	51133064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51133064G>A	ENST00000338916.4	-	3	1672	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	SYT3_ENST00000600079.1_Missense_Mutation_p.R347C|SYT3_ENST00000544769.1_Missense_Mutation_p.R347C|SYT3_ENST00000593901.1_Missense_Mutation_p.R347C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	347	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTTTTCTTGCGGTCAGGCAGC	0.622																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1039-1041)Cgc>Tgc		synaptotagmin III							61.0	61.0	61.0					19																	51133064		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133064G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1039C>T	19.37:g.51133064G>A	ENSP00000340914:p.Arg347Cys					SYT3_ENST00000593901.1_Missense_Mutation_p.R347C|SYT3_ENST00000544769.1_Missense_Mutation_p.R347C|SYT3_ENST00000600079.1_Missense_Mutation_p.R347C	p.R347C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1672	-		all_neural(266;0.131)	347			C2 1.		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.1039C>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725553	0.68959	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.09073	3.02;3.02	4.67	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000011	T	0.24967	0.0606	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.00891	-1.1525	10	0.87932	D	0	.	16.7093	0.85381	0.0:0.0:1.0:0.0	.	347	Q9BQG1	SYT3_HUMAN	C	347	ENSP00000340914:R347C;ENSP00000438883:R347C	ENSP00000340914:R347C	R	-	1	0	SYT3	55824876	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	2.641000	0.46587	2.301000	0.77427	0.655000	0.94253	CGC		0.622	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		99	388	0	0	0	1	0	99	388				
G2E3	55632	broad.mit.edu	37	14	31085649	31085649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31085649C>T	ENST00000206595.6	+	15	2184	c.2030C>T	c.(2029-2031)aCa>aTa	p.T677I	G2E3_ENST00000553504.1_Missense_Mutation_p.T707I|G2E3_ENST00000438909.2_Missense_Mutation_p.T631I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	677	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCACCAATACATATAAAGAG	0.353																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2029-2031)aCa>aTa		G2/M-phase specific E3 ubiquitin protein ligase							60.0	57.0	58.0					14																	31085649		2202	4300	6502	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31085649C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.2030C>T	14.37:g.31085649C>T	ENSP00000206595:p.Thr677Ile					G2E3_ENST00000553504.1_Missense_Mutation_p.T707I|G2E3_ENST00000438909.2_Missense_Mutation_p.T631I	p.T677I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			15	2184	+			677			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.2030C>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961191	0.74016	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.51325	0.71;0.71;0.71	5.8	5.8	0.92144	HECT (3);	0.207572	0.50627	D	0.000104	T	0.67748	0.2926	M	0.69823	2.125	0.41583	D	0.988754	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.974	T	0.70400	-0.4882	10	0.87932	D	0	-14.5557	15.5232	0.75881	0.0:0.8624:0.1376:0.0	.	189;677	Q49AD9;Q7L622	.;G2E3_HUMAN	I	677;631;707	ENSP00000206595:T677I;ENSP00000391068:T631I;ENSP00000451653:T707I	ENSP00000206595:T677I	T	+	2	0	G2E3	30155400	0.070000	0.21116	0.997000	0.53966	0.850000	0.48378	2.887000	0.48586	2.736000	0.93811	0.591000	0.81541	ACA		0.353	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		29	158	0	0	0	1	0	29	158				
CLN6	54982	broad.mit.edu	37	15	68500636	68500636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500636G>T	ENST00000249806.5	-	7	935	c.778C>A	c.(778-780)Ctc>Atc	p.L260I	CALML4_ENST00000395465.3_5'Flank|CALML4_ENST00000467889.1_5'Flank|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CLN6_ENST00000418702.2_Missense_Mutation_p.L131I|CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I|CALML4_ENST00000448060.2_5'Flank	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	260					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAGAGGAAGAGGCCGTTGCTG	0.592																																						ENST00000249806.5																			0				large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(778-780)Ctc>Atc		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							115.0	106.0	109.0					15																	68500636		2200	4298	6498	SO:0001583	missense	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68500636G>T	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.778C>A	15.37:g.68500636G>T	ENSP00000249806:p.Leu260Ile					CLN6_ENST00000418702.2_Missense_Mutation_p.L131I|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I|RP11-315D16.2_ENST00000562767.1_Intron	p.L260I	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN			7	935	-			260					A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	ENST00000249806.5	37	c.778C>A	CCDS10227.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428218	0.83667	.	.	ENSG00000128973	ENST00000249806;ENST00000418702;ENST00000538696	D;D;D	0.95103	-3.61;-3.61;-3.61	5.24	4.32	0.51571	.	0.074290	0.56097	D	0.000039	D	0.95345	0.8489	M	0.61703	1.905	0.44149	D	0.996948	D;P;D	0.59767	0.986;0.767;0.961	P;B;P	0.56278	0.795;0.439;0.616	D	0.94807	0.7975	10	0.51188	T	0.08	-32.0251	13.6395	0.62241	0.0752:0.0:0.9248:0.0	.	292;131;260	B4DDH6;E7ESV1;Q9NWW5	.;.;CLN6_HUMAN	I	260;131;292	ENSP00000249806:L260I;ENSP00000393826:L131I;ENSP00000445770:L292I	ENSP00000249806:L260I	L	-	1	0	CLN6	66287690	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.041000	0.70988	1.204000	0.43247	0.462000	0.41574	CTC		0.592	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		13	652	1	0	5.50884e-06	1	5.65664e-06	13	652				
KRT20	54474	broad.mit.edu	37	17	39038846	39038846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39038846C>T	ENST00000167588.3	-	2	492	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	151	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCCTCAGCAGCCAGTTTAGCA	0.378																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(451-453)Gct>Act		keratin 20							123.0	112.0	116.0					17																	39038846		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39038846C>T	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.451G>A	17.37:g.39038846C>T	ENSP00000167588:p.Ala151Thr						p.A151T	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			2	492	-		Breast(137;0.000301)|Ovarian(249;0.15)	151			Coil 1B.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.451G>A	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812948	0.70912	.	.	ENSG00000171431	ENST00000167588	D	0.89270	-2.49	5.33	2.25	0.28309	Filament (1);	0.101974	0.42682	D	0.000662	D	0.87374	0.6161	L	0.59912	1.85	0.38839	D	0.956026	P	0.34934	0.476	B	0.42138	0.377	D	0.86327	0.1696	10	0.42905	T	0.14	.	10.4064	0.44260	0.0:0.7883:0.0:0.2117	.	151	P35900	K1C20_HUMAN	T	151	ENSP00000167588:A151T	ENSP00000167588:A151T	A	-	1	0	KRT20	36292372	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	3.484000	0.53201	1.245000	0.43885	0.557000	0.71058	GCT		0.378	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			82	357	0	0	0	1	0	82	357				
SENP7	57337	broad.mit.edu	37	3	101090890	101090890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101090890T>G	ENST00000394095.2	-	7	811	c.758A>C	c.(757-759)gAt>gCt	p.D253A	SENP7_ENST00000394091.1_Missense_Mutation_p.D89A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000348610.3_Missense_Mutation_p.D220A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	253						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGAAATGCCATCATCCTTTCT	0.338																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(757-759)gAt>gCt		SUMO1/sentrin specific peptidase 7							110.0	105.0	106.0					3																	101090890		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101090890T>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.758A>C	3.37:g.101090890T>G	ENSP00000377655:p.Asp253Ala					SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000348610.3_Missense_Mutation_p.D220A|SENP7_ENST00000394091.1_Missense_Mutation_p.D89A	p.D253A	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			7	811	-			253					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.758A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	7.814	0.716243	0.15306	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.20598	2.06;2.08;2.09;2.07;2.07;2.07	5.1	1.29	0.21616	.	0.413140	0.20689	N	0.087483	T	0.16685	0.0401	L	0.56769	1.78	0.09310	N	1	P;B;B;B	0.42296	0.775;0.4;0.4;0.068	B;B;B;B	0.39660	0.306;0.173;0.124;0.009	T	0.12268	-1.0554	10	0.27082	T	0.32	-3.139	4.088	0.09957	0.0:0.1866:0.1797:0.6336	.	89;187;220;253	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	A	253;188;187;89;89;220	ENSP00000377655:D253A;ENSP00000377654:D188A;ENSP00000313624:D187A;ENSP00000377651:D89A;ENSP00000350936:D89A;ENSP00000342159:D220A	ENSP00000313624:D187A	D	-	2	0	SENP7	102573580	0.005000	0.15991	0.035000	0.18076	0.016000	0.09150	-0.050000	0.11904	0.044000	0.15775	0.477000	0.44152	GAT		0.338	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		53	296	0	0	0	1	0	53	296				
PLEKHG3	26030	broad.mit.edu	37	14	65208098	65208098	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65208098G>T	ENST00000394691.1	+	16	2010	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.Q565H|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.Q126H|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.Q154H			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	621							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGTGGCACAGGAGGACAGCA	0.667																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(1693-1695)caG>caT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							41.0	45.0	44.0					14																	65208098		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208098G>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1863G>T	14.37:g.65208098G>T	ENSP00000378183:p.Gln621His					PLEKHG3_ENST00000484731.2_Missense_Mutation_p.Q126H|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.Q621H|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.Q154H	p.Q565H	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2003	+			621					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1695G>T		.	.	.	.	.	.	.	.	.	.	G	7.951	0.744777	0.15710	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.67	2.84	0.33178	.	0.512935	0.17080	N	0.187808	T	0.73426	0.3585	N	0.14661	0.345	0.21933	N	0.999463	P;P;B;B	0.40515	0.719;0.502;0.31;0.436	B;B;B;B	0.39152	0.243;0.243;0.153;0.292	T	0.64076	-0.6492	10	0.44086	T	0.13	.	4.7219	0.12922	0.302:0.0:0.5582:0.1398	.	154;126;621;565	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	H	565;621;154;126	ENSP00000247226:Q565H;ENSP00000378183:Q621H;ENSP00000450945:Q154H;ENSP00000450973:Q126H	ENSP00000247226:Q565H	Q	+	3	2	PLEKHG3	64277851	0.036000	0.19791	0.530000	0.27963	0.150000	0.21749	0.287000	0.18920	0.338000	0.23692	-0.140000	0.14226	CAG		0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		7	279	1	0	8.12818e-05	1	8.2724e-05	7	279				
EHMT1	79813	broad.mit.edu	37	9	140728842	140728842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140728842C>T	ENST00000460843.1	+	26	3609	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1194	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCTACGGGAACGTCAGCCGGT	0.667																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3580-3582)aaC>aaT		euchromatic histone-lysine N-methyltransferase 1							70.0	67.0	68.0					9																	140728842		2202	4300	6502	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140728842C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3582C>T	9.37:g.140728842C>T							p.N1194N	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	26	3609	+	all_cancers(76;0.164)		1194			SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3582C>T	CCDS7050.2																																																																																				0.667	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		56	247	0	0	0	1	0	56	247				
HMGB2	3148	broad.mit.edu	37	4	174254339	174254339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174254339C>T	ENST00000296503.5	-	3	1050	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HMGB2_ENST00000438704.2_Silent_p.K59K|HMGB2_ENST00000446922.2_Silent_p.K59K			P26583	HMGB2_HUMAN	high mobility group box 2	59					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TATCTTCAAACTTCGACTTCT	0.398																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(175-177)aaG>aaA		high mobility group box 2							125.0	127.0	126.0					4																	174254339		2203	4300	6503	SO:0001819	synonymous_variant	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254339C>T		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.177G>A	4.37:g.174254339C>T						HMGB2_ENST00000446922.2_Silent_p.K59K|HMGB2_ENST00000438704.2_Silent_p.K59K	p.K59K			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	3	1050	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	59					B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	c.177G>A	CCDS3816.1																																																																																				0.398	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		50	500	0	0	0	1	0	50	500				
ZZEF1	23140	broad.mit.edu	37	17	3968078	3968078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968078G>A	ENST00000381638.2	-	29	4419	c.4295C>T	c.(4294-4296)cCc>cTc	p.P1432L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1432							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TATGCCCGTGGGCAGAAATTT	0.393																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4294-4296)cCc>cTc		zinc finger, ZZ-type with EF-hand domain 1							53.0	59.0	57.0					17																	3968078		2199	4291	6490	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3968078G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4295C>T	17.37:g.3968078G>A	ENSP00000371051:p.Pro1432Leu						p.P1432L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			29	4419	-			1432					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4295C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384916	0.82792	.	.	ENSG00000074755	ENST00000381638	T	0.25579	1.79	5.53	5.53	0.82687	.	0.183743	0.47852	D	0.000205	T	0.47691	0.1459	M	0.62723	1.935	0.80722	D	1	D;P	0.57257	0.979;0.905	P;B	0.59643	0.861;0.403	T	0.44682	-0.9312	10	0.87932	D	0	-10.902	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1432;1432	O43149-2;O43149	.;ZZEF1_HUMAN	L	1432	ENSP00000371051:P1432L	ENSP00000371051:P1432L	P	-	2	0	ZZEF1	3914827	1.000000	0.71417	0.965000	0.40720	0.801000	0.45260	8.049000	0.89443	2.607000	0.88179	0.591000	0.81541	CCC		0.393	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		118	488	0	0	0	1	0	118	488				
CENPC	1060	broad.mit.edu	37	4	68374686	68374686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68374686C>A	ENST00000273853.6	-	10	2000	c.1750G>T	c.(1750-1752)Gca>Tca	p.A584S		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	584					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.A584P(1)									CCTTTAGTTGCTGTCTTCTGC	0.373																																						ENST00000273853.6																			1	Substitution - Missense(1)	p.A584P(1)	lung(1)								c.(1750-1752)Gca>Tca		centromere protein C							169.0	155.0	160.0					4																	68374686		1839	4092	5931	SO:0001583	missense	1060							g.chr4:68374686C>A	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1750G>T	4.37:g.68374686C>A	ENSP00000273853:p.Ala584Ser						p.A584S	NM_001812.2	NP_001803.2					10	2000	-								Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.1750G>T	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.684186	0.00745	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.0	-3.06	0.05379	.	1.153350	0.06379	N	0.714930	T	0.18718	0.0449	L	0.33485	1.01	0.09310	N	1	B;B	0.18461	0.028;0.01	B;B	0.15052	0.009;0.012	T	0.23691	-1.0181	9	0.10111	T	0.7	0.0165	0.4049	0.00431	0.3724:0.2328:0.1404:0.2544	.	584;584	Q8IW27;Q03188	.;CENPC_HUMAN	S	584	.	ENSP00000273853:A584S	A	-	1	0	CENPC1	68057281	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.459000	0.02370	-0.425000	0.07371	0.650000	0.86243	GCA		0.373	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			78	428	1	0	8.87156e-34	1	1.0529e-33	78	428				
ZNF136	7695	broad.mit.edu	37	19	12298499	12298499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298499C>T	ENST00000343979.4	+	4	1446	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	436					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACATCAATTCGAATACATGA	0.373																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1306-1308)Cga>Tga		zinc finger protein 136							58.0	55.0	56.0					19																	12298499		2203	4300	6503	SO:0001587	stop_gained	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298499C>T	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1306C>T	19.37:g.12298499C>T	ENSP00000344162:p.Arg436*					ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	p.R436*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	1446	+			436						Nonsense_Mutation	SNP	ENST00000343979.4	37	c.1306C>T	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110029	0.94292	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.25	0.105	0.14535	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6072	0.02686	0.3018:0.3472:0.0:0.351	.	.	.	.	X	436;370	.	.	R	+	1	2	ZNF136	12159499	0.000000	0.05858	0.011000	0.14972	0.796000	0.44982	-0.138000	0.10374	0.066000	0.16515	-0.181000	0.13052	CGA		0.373	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		37	171	0	0	0	1	0	37	171				
MYH14	79784	broad.mit.edu	37	19	50796920	50796920	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50796920C>T	ENST00000596571.1	+	36	5322	c.5322C>T	c.(5320-5322)gaC>gaT	p.D1774D	MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000440075.2_Silent_p.D1815D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000601313.1_Silent_p.D1815D|MYH14_ENST00000598205.1_Silent_p.D1782D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1774					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCTCAATGACCGCTACCGCA	0.612																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5443-5445)gaC>gaT		myosin, heavy chain 14, non-muscle							50.0	51.0	51.0					19																	50796920		2192	4294	6486	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50796920C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5322C>T	19.37:g.50796920C>T						MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000596571.1_Silent_p.D1774D|MYH14_ENST00000598205.1_Silent_p.D1782D|MYH14_ENST00000601313.1_Silent_p.D1815D	p.D1815D			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	39	5492	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1774					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.5445C>T	CCDS59411.1																																																																																				0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		48	163	0	0	0	1	0	48	163				
SYNE2	23224	broad.mit.edu	37	14	64518405	64518405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518405G>A	ENST00000344113.4	+	48	7986	c.7774G>A	c.(7774-7776)Gat>Aat	p.D2592N	SYNE2_ENST00000554584.1_Missense_Mutation_p.D2625N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2592N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2592					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACTGACATGGATAAGAAATT	0.348																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7774-7776)Gat>Aat		spectrin repeat containing, nuclear envelope 2							91.0	84.0	86.0					14																	64518405		1857	4103	5960	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518405G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7774G>A	14.37:g.64518405G>A	ENSP00000341781:p.Asp2592Asn					SYNE2_ENST00000344113.4_Missense_Mutation_p.D2592N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D2625N	p.D2592N	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8004	+			2592					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7774G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365146	0.41902	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.73152	1.15;1.15;-0.72	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000009	T	0.78438	0.4283	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77230	-0.2664	10	0.45353	T	0.12	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	2592;2592	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	2592;2592;2625;2625	ENSP00000350719:D2592N;ENSP00000341781:D2592N;ENSP00000452570:D2625N	ENSP00000261678:D2625N	D	+	1	0	SYNE2	63588158	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	6.394000	0.73223	2.788000	0.95919	0.650000	0.86243	GAT		0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		68	261	0	0	0	1	0	68	261				
TMEM200B	399474	broad.mit.edu	37	1	29447499	29447499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29447499C>T	ENST00000420504.2	-	2	999	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	281						integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TGGCCAGCTTCGGTGAGCACA	0.642																																						ENST00000420504.2																			0				ovary(1)	1						c.(841-843)cGa>cAa		transmembrane protein 200B							21.0	23.0	22.0					1																	29447499		2203	4300	6503	SO:0001583	missense	399474					integral to membrane		g.chr1:29447499C>T		CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.842G>A	1.37:g.29447499C>T	ENSP00000428544:p.Arg281Gln					TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)	2	999	-		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	281					Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	ENST00000420504.2	37	c.842G>A	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916115	0.92178	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	4.26	0.50523	.	0.000000	0.36234	U	0.002718	T	0.54175	0.1842	N	0.19112	0.55	0.35186	D	0.772954	D	0.76494	0.999	P	0.61132	0.884	T	0.68025	-0.5518	9	0.87932	D	0	.	14.3489	0.66685	0.0:1.0:0.0:0.0	.	281	Q69YZ2	T200B_HUMAN	Q	281	.	ENSP00000428544:R281Q	R	-	2	0	TMEM200B	29320086	0.819000	0.29175	1.000000	0.80357	0.989000	0.77384	1.248000	0.32827	2.348000	0.79779	0.655000	0.94253	CGA		0.642	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	NM_001003682		28	119	0	0	0	1	0	28	119				
SNX7	51375	broad.mit.edu	37	1	99161105	99161105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161105G>T	ENST00000306121.3	+	5	680	c.671G>T	c.(670-672)gGc>gTc	p.G224V	SNX7_ENST00000370189.5_Missense_Mutation_p.G160V|SNX7_ENST00000529992.1_Missense_Mutation_p.G169V	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	160					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CAAGGTCCTGGCTTGCTAAGC	0.408																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(478-480)gGc>gTc		sorting nexin 7							59.0	68.0	65.0					1																	99161105		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161105G>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.671G>T	1.37:g.99161105G>T	ENSP00000304429:p.Gly224Val					SNX7_ENST00000529992.1_Missense_Mutation_p.G169V|SNX7_ENST00000306121.3_Missense_Mutation_p.G224V	p.G160V			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	6	843	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	160					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.479G>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087998	0.76642	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.38722	1.23;1.88;1.12	5.66	5.66	0.87406	.	0.340418	0.35013	N	0.003511	T	0.60209	0.2251	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.981;0.974	T	0.60296	-0.7291	10	0.66056	D	0.02	-34.4901	20.1041	0.97884	0.0:0.0:1.0:0.0	.	169;224;160	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	V	160;169;224	ENSP00000359208:G160V;ENSP00000434731:G169V;ENSP00000304429:G224V	ENSP00000304429:G224V	G	+	2	0	SNX7	98933693	1.000000	0.71417	0.917000	0.36280	0.399000	0.30720	9.778000	0.99011	2.826000	0.97356	0.655000	0.94253	GGC		0.408	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			23	287	1	0	3.7963e-18	1	4.20509e-18	23	287				
DTX2	113878	broad.mit.edu	37	7	76112048	76112048	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76112048G>T	ENST00000324432.5	+	5	1002	c.492G>T	c.(490-492)aaG>aaT	p.K164N	DTX2_ENST00000446820.2_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000446600.1_Missense_Mutation_p.K73N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	164	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						AGACCAACAAGACTTCCAGCT	0.647																																						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.(490-492)aaG>aaT		deltex homolog 2 (Drosophila)							58.0	49.0	52.0					7																	76112048		2203	4300	6503	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112048G>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.492G>T	7.37:g.76112048G>T	ENSP00000322885:p.Lys164Asn					DTX2_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000446820.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N|DTX2_ENST00000446600.1_Missense_Mutation_p.K73N	p.K164N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1002	+			164			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.492G>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.737445	0.49045	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.41	3.6	0.41247	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.52011	1.625	0.48901	D	0.999729	D;D;D	0.76494	0.996;0.999;0.996	D;D;P	0.71414	0.931;0.973;0.88	T	0.43114	-0.9411	10	0.33940	T	0.23	-28.7245	8.4975	0.33136	0.2368:0.0:0.7632:0.0	.	73;164;164	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	N	164;164;73;73;164;164;164	ENSP00000322885:K164N;ENSP00000305242:K164N;ENSP00000397648:K73N;ENSP00000390218:K164N;ENSP00000411986:K164N;ENSP00000392545:K164N	ENSP00000305242:K164N	K	+	3	2	AC005522.1	75949984	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	2.134000	0.42102	0.673000	0.31224	0.561000	0.74099	AAG		0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			27	261	1	0	1.77063e-15	1	1.9355e-15	27	261				
MYF6	4618	broad.mit.edu	37	12	81102007	81102007	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81102007A>C	ENST00000228641.3	+	1	731	c.509A>C	c.(508-510)aAa>aCa	p.K170T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	170					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACAGACCCAAACAAGAAAAT	0.562																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(508-510)aAa>aCa		myogenic factor 6 (herculin)							31.0	35.0	34.0					12																	81102007		2198	4294	6492	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81102007A>C		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.509A>C	12.37:g.81102007A>C	ENSP00000228641:p.Lys170Thr						p.K170T	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	731	+			170					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.509A>C	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750526	0.31046	.	.	ENSG00000111046	ENST00000228641	D	0.96104	-3.91	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (1);	0.199532	0.51477	D	0.000089	D	0.93936	0.8059	M	0.62723	1.935	0.58432	D	0.999996	P	0.50272	0.933	B	0.43508	0.422	D	0.92617	0.6104	10	0.12766	T	0.61	-20.4436	16.0971	0.81132	1.0:0.0:0.0:0.0	.	170	P23409	MYF6_HUMAN	T	170	ENSP00000228641:K170T	ENSP00000228641:K170T	K	+	2	0	MYF6	79626138	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.761000	0.74945	2.279000	0.76181	0.533000	0.62120	AAA		0.562	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		63	279	0	0	0	1	0	63	279				
PAPOLA	10914	broad.mit.edu	37	14	97018865	97018865	+	Missense_Mutation	SNP	G	G	A	rs369122749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97018865G>A	ENST00000216277.8	+	17	1790	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	524	Ser/Thr-rich.	Interaction with RNA. {ECO:0000250}.			gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGCAGCCTCGACTTGTCTAT	0.413																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(1570-1572)Gac>Aac		poly(A) polymerase alpha		G	ASN/ASP	0,4406		0,0,2203	111.0	102.0	105.0		1570	5.3	1.0	14		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAPOLA	NM_032632.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	524/746	97018865	1,13005	2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97018865G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1570G>A	14.37:g.97018865G>A	ENSP00000216277:p.Asp524Asn					PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524N	p.D524N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	17	1790	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	524			Ser/Thr-rich.	Interaction with RNA (By similarity).	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1570G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070980	0.76301	0.0	1.16E-4	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.61703	1.905	0.80722	D	1	P;P;P	0.47106	0.89;0.856;0.856	B;B;B	0.36335	0.222;0.148;0.148	T	0.54879	-0.8227	9	0.18710	T	0.47	.	19.3796	0.94527	0.0:0.0:1.0:0.0	.	540;540;524	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	N	524;540;524;274	.	ENSP00000216277:D524N	D	+	1	0	PAPOLA	96088618	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.102000	0.89548	2.644000	0.89710	0.650000	0.86243	GAC		0.413	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			68	332	0	0	0	1	0	68	332				
UBA5	79876	broad.mit.edu	37	3	132394147	132394147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132394147G>T	ENST00000356232.4	+	9	1940	c.868G>T	c.(868-870)Gat>Tat	p.D290Y	UBA5_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y|UBA5_ENST00000264991.4_Missense_Mutation_p.D234Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	290					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCAATGCAGGATTTTTTTCC	0.323																																						ENST00000356232.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(868-870)Gat>Tat		ubiquitin-like modifier activating enzyme 5							80.0	78.0	78.0					3																	132394147		2203	4300	6503	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132394147G>T	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.868G>T	3.37:g.132394147G>T	ENSP00000348565:p.Asp290Tyr					UBA5_ENST00000264991.4_Missense_Mutation_p.D234Y|UBA5_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y|UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y	p.D290Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN			9	1940	+			290					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.868G>T	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745354	0.89663	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.78	5.78	0.91487	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.091169	0.64402	D	0.000001	T	0.69070	0.3070	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76293	-0.3012	10	0.54805	T	0.06	-31.1863	19.994	0.97377	0.0:0.0:1.0:0.0	.	290;290	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	Y	234;290;290;290;234	ENSP00000264991:D234Y;ENSP00000348565:D290Y;ENSP00000417879:D290Y;ENSP00000424984:D290Y;ENSP00000418807:D234Y	ENSP00000264991:D234Y	D	+	1	0	UBA5	133876837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.397000	0.97276	2.716000	0.92895	0.591000	0.81541	GAT		0.323	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		11	282	1	0	5.16669e-11	1	5.49905e-11	11	282				
ITPR3	3710	broad.mit.edu	37	6	33634963	33634963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33634963C>T	ENST00000374316.5	+	16	2669	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	537					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCCCCTGGTGCGGCTGGAGGA	0.602																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1609-1611)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 3							82.0	77.0	79.0					6																	33634963		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33634963C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1609C>T	6.37:g.33634963C>T	ENSP00000363435:p.Arg537Trp					ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W	p.R537W			Q14573	ITPR3_HUMAN			16	2669	+			537					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1609C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768538	0.69878	.	.	ENSG00000096433	ENST00000374316	D	0.90004	-2.6	4.51	3.48	0.39840	Intracellular calcium-release channel (1);	0.066556	0.56097	D	0.000023	D	0.93070	0.7794	M	0.80982	2.52	0.40864	D	0.983853	D	0.76494	0.999	D	0.73380	0.98	D	0.93942	0.7224	10	0.87932	D	0	-33.5454	14.6107	0.68514	0.2219:0.7781:0.0:0.0	.	537	Q14573	ITPR3_HUMAN	W	537	ENSP00000363435:R537W	ENSP00000363435:R537W	R	+	1	2	ITPR3	33742941	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	1.483000	0.35497	2.222000	0.72286	0.462000	0.41574	CGG		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		74	373	0	0	0	1	0	74	373				
CCDC142	84865	broad.mit.edu	37	2	74702391	74702391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74702391G>A	ENST00000393965.3	-	7	2153	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	MRPL53_ENST00000409710.1_5'Flank|MRPL53_ENST00000258105.7_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	586										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTCAAGCCAGGCACCCACGAT	0.582																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(1756-1758)gCc>gTc		coiled-coil domain containing 142							88.0	92.0	91.0					2																	74702391		2203	4300	6503	SO:0001583	missense	84865							g.chr2:74702391G>A	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1757C>T	2.37:g.74702391G>A	ENSP00000377537:p.Ala586Val					CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V	p.A586V	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			7	2153	-			586					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.1757C>T		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709332	0.68615	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.69993	0.3173	M	0.72118	2.19	0.43652	D	0.996062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.73078	-0.4096	10	0.72032	D	0.01	-10.8696	13.081	0.59114	0.0:0.0:1.0:0.0	.	586;579;586	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	V	586;579	ENSP00000377537:A586V;ENSP00000290418:A579V	ENSP00000290418:A579V	A	-	2	0	CCDC142	74555899	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.209000	0.72171	2.472000	0.83506	0.467000	0.42956	GCC		0.582	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		30	631	0	0	0	1	0	30	631				
SI	6476	broad.mit.edu	37	3	164735363	164735363	+	Silent	SNP	G	G	A	rs200449490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735363G>A	ENST00000264382.3	-	31	3794	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1244	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCACCATAGCGTCATATAATT	0.348										HNSCC(35;0.089)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		15212	0.0		0.0	False		,,,				2504	0.0					ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3730-3732)gaC>gaT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						64.0	61.0	62.0					3																	164735363		2203	4298	6501	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735363G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3732C>T	3.37:g.164735363G>A		HNSCC(35;0.089)					p.D1244D	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			31	3794	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1244			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3732C>T	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		28	228	0	0	0	1	0	28	228				
KIF1B	23095	broad.mit.edu	37	1	10363995	10363995	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10363995C>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.R918C|KIF1B_ENST00000377083.1_Missense_Mutation_p.R918C|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R918S(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TAGACGTGGACGTCTGCGCTG	0.453																																						ENST00000377093.4																			1	Substitution - Missense(1)	p.R918S(1)	lung(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2752-2754)Cgt>Tgt		kinesin family member 1B							60.0	62.0	61.0					1																	10363995		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10363995C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6691C>T	1.37:g.10363995C>T						KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R918C	p.R918C	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	2905	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2752C>T		.	.	.	.	.	.	.	.	.	.	C	17.16	3.319410	0.60524	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	D;D	0.82984	-1.67;-1.67	5.62	5.62	0.85841	.	.	.	.	.	D	0.91506	0.7318	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	D	0.92142	0.5721	8	0.87932	D	0	.	19.6614	0.95875	0.0:1.0:0.0:0.0	.	918	O60333-3	.	C	918	ENSP00000366297:R918C;ENSP00000366287:R918C	ENSP00000366287:R918C	R	+	1	0	KIF1B	10286582	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	5.720000	0.68470	2.633000	0.89246	0.655000	0.94253	CGT		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			11	262	0	0	0	1	0	11	262				
ZNF3	7551	broad.mit.edu	37	7	99669691	99669691	+	Missense_Mutation	SNP	G	G	A	rs199856343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669691G>A	ENST00000424697.1	-	6	722	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.P139L|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	139					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GTTCCCCAGCGGCCTTTTCAG	0.478																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(415-417)cCg>cTg		zinc finger protein 3		G	,LEU/PRO	0,3662		0,0,1831	108.0	102.0	104.0		,416	3.4	1.0	7		104	4,8158		0,4,4077	yes	intron,missense	ZNF3	NM_017715.2,NM_032924.3	,98	0,4,5908	AA,AG,GG		0.049,0.0,0.0338	,benign	,139/447	99669691	4,11820	1831	4081	5912	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669691G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.416C>T	7.37:g.99669691G>A	ENSP00000415358:p.Pro139Leu					ZNF3_ENST00000424697.1_Missense_Mutation_p.P139L|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L	p.P139L			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1383	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	139					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.416C>T	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007373	0.02112	0.0	4.9E-4	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683	T;T;T;T;T;T	0.06218	3.33;3.33;3.33;5.18;5.32;5.32	4.58	3.43	0.39272	.	0.418084	0.20469	N	0.091721	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.006	B;B	0.09377	0.004;0.001	T	0.40590	-0.9555	10	0.38643	T	0.18	-8.6936	9.6919	0.40134	0.0:0.0:0.1853:0.8147	.	122;139	B3KRP4;P17036	.;ZNF3_HUMAN	L	139;139;139;103;139;139	ENSP00000415358:P139L;ENSP00000306372:P139L;ENSP00000299667:P139L;ENSP00000416088:P103L;ENSP00000405970:P139L;ENSP00000388042:P139L	ENSP00000299667:P139L	P	-	2	0	ZNF3	99507627	0.000000	0.05858	0.969000	0.41365	0.192000	0.23643	0.767000	0.26575	0.911000	0.36747	-0.500000	0.04577	CCG		0.478	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		108	507	0	0	0	1	0	108	507				
MIXL1	83881	broad.mit.edu	37	1	226413512	226413512	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413512G>A	ENST00000366810.5	+	2	762	c.698G>A	c.(697-699)tGa>tAa	p.*233*	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.*241*			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	0					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGTAACTTTTGAGGATTCTGG	0.468																																					Pancreas(72;1302 1881 20981 22800)	ENST00000366810.5																			0				breast(1)	1						c.(697-699)tGa>tAa		Mix paired-like homeobox							121.0	118.0	119.0					1																	226413512		2203	4300	6503	SO:0001819	synonymous_variant	83881				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:226413512G>A	AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"""Homeoboxes / PRD class"""	13363	protein-coding gene	gene with protein product		609852	"""Mix1 homeobox (Xenopus laevis)-like 1"", ""Mix1 homeobox-like 1 (Xenopus laevis)"""			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.698G>A	1.37:g.226413512G>A						MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.*241*	p.*233*			Q9H2W2	MIXL1_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	2	762	+	Breast(184;0.158)		0					B7ZLF9	Silent	SNP	ENST00000366810.5	37	c.698G>A	CCDS1552.1																																																																																				0.468	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3			26	1009	0	0	0	1	0	26	1009				
GEMIN4	50628	broad.mit.edu	37	17	650572	650572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650572G>A	ENST00000319004.5	-	2	829	c.711C>T	c.(709-711)tgC>tgT	p.C237C	GEMIN4_ENST00000576778.1_Silent_p.C226C|GEMIN4_ENST00000437269.1_Intron	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	237					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCAGCGCACAGCACTTCCTCC	0.637																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(676-678)tgC>tgT		gem (nuclear organelle) associated protein 4							67.0	75.0	72.0					17																	650572		2170	4269	6439	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650572G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.711C>T	17.37:g.650572G>A						GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Silent_p.C237C	p.C226C			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2019	-		Myeloproliferative disorder(207;0.204)	237					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.678C>T	CCDS45559.1																																																																																				0.637	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		14	527	0	0	0	1	0	14	527				
TTC4	7268	broad.mit.edu	37	1	55194081	55194081	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55194081T>C	ENST00000371281.3	+	6	744	c.657T>C	c.(655-657)aaT>aaC	p.N219N	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	219										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGAATCAGAATGAGGCTTTAC	0.408																																						ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(655-657)aaT>aaC		tetratricopeptide repeat domain 4							118.0	121.0	120.0					1																	55194081		2203	4300	6503	SO:0001819	synonymous_variant	7268						binding	g.chr1:55194081T>C		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.657T>C	1.37:g.55194081T>C						TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	p.N219N	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			6	744	+			219					Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	ENST00000371281.3	37	c.657T>C	CCDS596.1																																																																																				0.408	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		18	115	0	0	0	1	0	18	115				
TRIP12	9320	broad.mit.edu	37	2	230667001	230667001	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230667001C>A	ENST00000283943.5	-	20	3126	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	TRIP12_ENST00000389045.3_Missense_Mutation_p.S713I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	983					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCATCCCTGCTGTGCTGCAA	0.488																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2947-2949)aGc>aTc		thyroid hormone receptor interactor 12							67.0	59.0	62.0					2																	230667001		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230667001C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2948G>T	2.37:g.230667001C>A	ENSP00000283943:p.Ser983Ile					TRIP12_ENST00000389045.3_Missense_Mutation_p.S713I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I|TRIP12_ENST00000543084.1_Intron	p.S983I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	20	3126	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	983					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.2948G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311983	0.81358	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.81;1.19;0.8	5.42	5.42	0.78866	.	0.041280	0.85682	D	0.000000	T	0.32793	0.0841	N	0.22421	0.69	0.80722	D	1	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.28784	0.094;0.094;0.094	T	0.15093	-1.0449	10	0.37606	T	0.19	.	17.379	0.87399	0.0:1.0:0.0:0.0	.	713;1031;983	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	983;713;1031	ENSP00000283943:S983I;ENSP00000373697:S713I;ENSP00000373696:S1031I	ENSP00000283943:S983I	S	-	2	0	TRIP12	230375245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.410000	0.66381	2.521000	0.84997	0.585000	0.79938	AGC		0.488	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		84	206	1	0	8.87156e-34	1	1.0529e-33	84	206				
ENPP2	5168	broad.mit.edu	37	8	120569929	120569929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120569929G>T	ENST00000075322.6	-	25	2482	c.2424C>A	c.(2422-2424)agC>agA	p.S808R	ENPP2_ENST00000427067.2_Missense_Mutation_p.S829R|ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R|ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R|ENPP2_ENST00000522167.1_Missense_Mutation_p.S443R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	808					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGTCCTCTGAGCTCTGCAATG	0.443																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2485-2487)agC>agA		ectonucleotide pyrophosphatase/phosphodiesterase 2							139.0	127.0	131.0					8																	120569929		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569929G>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2424C>A	8.37:g.120569929G>T	ENSP00000075322:p.Ser808Arg					ENPP2_ENST00000075322.6_Missense_Mutation_p.S808R|ENPP2_ENST00000522167.1_Missense_Mutation_p.S443R|ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R|ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R	p.S829R			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	2667	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		808					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2487C>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909460	0.33721	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.75367	-0.72;-0.71;-0.93;-0.71;-0.71	5.91	3.15	0.36227	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.077468	0.52532	D	0.000070	T	0.80341	0.4605	M	0.68952	2.095	0.48696	D	0.99969	P;P;D;P;D	0.58970	0.806;0.848;0.983;0.71;0.984	P;P;P;B;P	0.61132	0.776;0.583;0.729;0.35;0.884	T	0.76906	-0.2786	10	0.40728	T	0.16	.	9.5939	0.39563	0.2684:0.0:0.7316:0.0	.	346;833;808;860;443	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	R	860;829;443;833;808	ENSP00000259486:S860R;ENSP00000403315:S829R;ENSP00000429476:S443R;ENSP00000428291:S833R;ENSP00000075322:S808R	ENSP00000075322:S808R	S	-	3	2	ENPP2	120639110	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	1.137000	0.31479	0.402000	0.25451	0.655000	0.94253	AGC		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			84	416	1	0	5.71386e-39	1	6.9007e-39	84	416				
SPATA17	128153	broad.mit.edu	37	1	218036156	218036156	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218036156A>C	ENST00000366933.4	+	10	1101	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	349						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CTCTTCTCAAAGTATGGAAAA	0.289																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(1045-1047)aAg>aCg		spermatogenesis associated 17							112.0	127.0	122.0					1																	218036156		2203	4294	6497	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:218036156A>C	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.1046A>C	1.37:g.218036156A>C	ENSP00000355900:p.Lys349Thr					SPATA17_ENST00000471021.1_3'UTR	p.K349T	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	10	1101	+			349					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.1046A>C	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683936	0.47991	.	.	ENSG00000162814	ENST00000366933	T	0.53423	0.62	5.38	3.08	0.35506	.	0.325508	0.26282	N	0.025278	T	0.49729	0.1574	M	0.74881	2.28	0.36585	D	0.873784	D	0.53619	0.961	P	0.46629	0.522	T	0.60880	-0.7175	10	0.72032	D	0.01	-4.4574	7.5057	0.27542	0.8309:0.0:0.1691:0.0	.	349	Q96L03	SPT17_HUMAN	T	349	ENSP00000355900:K349T	ENSP00000355900:K349T	K	+	2	0	SPATA17	216102779	0.989000	0.36119	0.575000	0.28536	0.529000	0.34654	2.795000	0.47861	0.868000	0.35678	0.477000	0.44152	AAG		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		37	631	0	0	0	1	0	37	631				
MED14	9282	broad.mit.edu	37	X	40522271	40522271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40522271C>T	ENST00000324817.1	-	26	3708	c.3590G>A	c.(3589-3591)gGc>gAc	p.G1197D		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1197					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTGCCAGGCCGGGCACAAG	0.498																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3589-3591)gGc>gAc		mediator complex subunit 14							102.0	81.0	88.0					X																	40522271		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40522271C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3590G>A	X.37:g.40522271C>T	ENSP00000323720:p.Gly1197Asp						p.G1197D	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			26	3708	-			1197					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.3590G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009936	0.54361	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.54071	0.59;0.59	5.59	5.59	0.84812	.	0.048785	0.85682	D	0.000000	T	0.47838	0.1467	L	0.36672	1.1	0.80722	D	1	P;P	0.45348	0.856;0.856	B;B	0.43623	0.425;0.425	T	0.52403	-0.8580	10	0.66056	D	0.02	.	14.2586	0.66070	0.0:0.8553:0.1447:0.0	.	1197;1197	A8KAK5;O60244	.;MED14_HUMAN	D	1197;96	ENSP00000323720:G1197D;ENSP00000411357:G96D	ENSP00000323720:G1197D	G	-	2	0	MED14	40407215	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	5.696000	0.68287	2.353000	0.79882	0.529000	0.55759	GGC		0.498	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		30	112	0	0	0	1	0	30	112				
P2RY13	53829	broad.mit.edu	37	3	151046509	151046509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046509C>T	ENST00000325602.5	-	2	354	c.335G>A	c.(334-336)aGa>aAa	p.R112K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	112					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CACAAAAGCTCTGAGCTGCCA	0.453																																						ENST00000325602.5																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(334-336)aGa>aAa		purinergic receptor P2Y, G-protein coupled, 13							82.0	81.0	82.0					3																	151046509		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151046509C>T	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.335G>A	3.37:g.151046509C>T	ENSP00000320376:p.Arg112Lys					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.R112K	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	354	-			112					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.335G>A	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608147	0.28623	.	.	ENSG00000181631	ENST00000325602	T	0.36520	1.25	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.105580	0.56097	D	0.000035	T	0.20333	0.0489	N	0.12961	0.28	0.09310	N	1	P	0.37083	0.581	B	0.41946	0.371	T	0.31696	-0.9934	10	0.05620	T	0.96	-16.0216	7.5497	0.27788	0.0:0.8056:0.0:0.1944	.	112	Q9BPV8	P2Y13_HUMAN	K	112	ENSP00000320376:R112K	ENSP00000320376:R112K	R	-	2	0	P2RY13	152529199	0.123000	0.22298	0.094000	0.20943	0.688000	0.40055	2.268000	0.43338	2.720000	0.93068	0.557000	0.71058	AGA		0.453	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		79	373	0	0	0	1	0	79	373				
OR2A12	346525	broad.mit.edu	37	7	143792476	143792476	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143792476C>A	ENST00000408949.2	+	1	336	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGTCATCTCCTTTGCTCCTT	0.428																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(274-276)tcC>tcA		olfactory receptor, family 2, subfamily A, member 12							129.0	118.0	122.0					7																	143792476		2031	4202	6233	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792476C>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.276C>A	7.37:g.143792476C>A							p.S92S	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	336	+	Melanoma(164;0.0783)		92					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.276C>A	CCDS43670.1																																																																																				0.428	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			70	298	1	0	9.4991e-31	1	1.11549e-30	70	298				
GINM1	116254	broad.mit.edu	37	6	149901847	149901847	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149901847A>G	ENST00000367419.5	+	6	826	c.705A>G	c.(703-705)ccA>ccG	p.P235P		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	235						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAGAGCCGCCATCTTCATATA	0.393																																						ENST00000367419.5																			0											c.(703-705)ccA>ccG		glycoprotein integral membrane 1							81.0	74.0	76.0					6																	149901847		2203	4300	6503	SO:0001819	synonymous_variant	116254							g.chr6:149901847A>G	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.705A>G	6.37:g.149901847A>G							p.P235P	NM_138785.3	NP_620140.1					6	826	+								B2RDY7|E1P5A2	Silent	SNP	ENST00000367419.5	37	c.705A>G	CCDS5216.1																																																																																				0.393	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		54	228	0	0	0	1	0	54	228				
C9orf78	51759	broad.mit.edu	37	9	132590482	132590482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132590482G>T	ENST00000372447.3	-	9	881	c.828C>A	c.(826-828)gaC>gaA	p.D276E	C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	276						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CATAATGATAGTCATCAGTTG	0.478																																						ENST00000372447.3																			0				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13						c.(826-828)gaC>gaA		chromosome 9 open reading frame 78							222.0	193.0	203.0					9																	132590482		2203	4300	6503	SO:0001583	missense	51759							g.chr9:132590482G>T	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.828C>A	9.37:g.132590482G>T	ENSP00000361524:p.Asp276Glu						p.D276E	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN			9	881	-		Ovarian(14;0.00556)	276					B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	ENST00000372447.3	37	c.828C>A	CCDS6931.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657856	0.67586	.	.	ENSG00000136819	ENST00000372447	T	0.49139	0.79	5.56	-0.113	0.13568	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.78049	2.395	0.58432	D	0.999995	D	0.67145	0.996	P	0.58210	0.835	T	0.53676	-0.8405	10	0.46703	T	0.11	.	6.1692	0.20408	0.362:0.0:0.5116:0.1265	.	276	Q9NZ63	CI078_HUMAN	E	276	ENSP00000361524:D276E	ENSP00000361524:D276E	D	-	3	2	C9orf78	131630303	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	2.631000	0.46502	0.056000	0.16144	-0.181000	0.13052	GAC		0.478	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	NM_016520		90	490	1	0	4.066e-59	1	5.10292e-59	90	490				
SMG6	23293	broad.mit.edu	37	17	2139876	2139876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139876G>A	ENST00000263073.6	-	10	2829	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.L19L|SMG6_ENST00000544865.1_Silent_p.L896L|SMG6_ENST00000354901.4_Silent_p.L19L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	927					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGCTGCAGTAACACCTGG	0.507																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2686-2688)Ctg>Ttg		SMG6 nonsense mediated mRNA decay factor							157.0	128.0	138.0					17																	2139876		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2139876G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2779C>T	17.37:g.2139876G>A						SMG6_ENST00000536871.2_Silent_p.L19L|SMG6_ENST00000263073.5_Silent_p.L927L|SMG6_ENST00000354901.4_Silent_p.L19L	p.L896L			Q86US8	EST1A_HUMAN			10	3196	-			927					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.2686C>T	CCDS11016.1																																																																																				0.507	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			75	335	0	0	0	1	0	75	335				
IRF9	10379	broad.mit.edu	37	14	24635385	24635385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24635385G>A	ENST00000396864.3	+	9	1449	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	IRF9_ENST00000557894.1_Missense_Mutation_p.S328N|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	388					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A388T(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCAGGCAGCCATTCTGTC	0.527																																						ENST00000396864.3																			1	Substitution - Missense(1)	p.A388T(1)	large_intestine(1)	NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(1162-1164)Gcc>Acc		interferon regulatory factor 9							64.0	64.0	64.0					14																	24635385		2203	4300	6503	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24635385G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1162G>A	14.37:g.24635385G>A	ENSP00000380073:p.Ala388Thr					IRF9_ENST00000557894.1_Missense_Mutation_p.S328N|RP11-468E2.4_ENST00000558468.1_3'UTR	p.A388T	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	9	1449	+			388					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.1162G>A	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894696	0.72639	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.94793	-3.52;-3.52	4.8	3.91	0.45181	SMAD domain-like (1);SMAD/FHA domain (1);	0.181219	0.22981	U	0.053301	D	0.94823	0.8328	M	0.61703	1.905	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	D	0.88158	0.2855	10	0.87932	D	0	-14.722	6.2456	0.20815	0.0979:0.1898:0.7124:0.0	.	388	Q00978	IRF9_HUMAN	T	388;204	ENSP00000380073:A388T;ENSP00000313529:A204T	ENSP00000313529:A204T	A	+	1	0	IRF9	23705225	0.335000	0.24748	0.713000	0.30519	0.060000	0.15804	2.962000	0.49176	2.665000	0.90641	0.561000	0.74099	GCC		0.527	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			30	110	0	0	0	1	0	30	110				
KLHDC8A	55220	broad.mit.edu	37	1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T	rs202228818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCACGGCGAGGAGGCAG	0.597																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(988-990)Gcc>Acc		kelch domain containing 8A							199.0	180.0	186.0					1																	205306592		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205306592C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.988G>A	1.37:g.205306592C>T	ENSP00000356124:p.Ala330Thr					KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T	p.A330T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		9	1804	-	Breast(84;0.23)		330					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.988G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178250	0.78564	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.43	4.52	0.55395	Kelch-type beta propeller (1);	0.106321	0.64402	N	0.000005	T	0.77003	0.4067	L	0.44542	1.39	0.53688	D	0.999974	D;D	0.69078	0.997;0.981	P;P	0.56042	0.79;0.468	T	0.77247	-0.2658	10	0.45353	T	0.12	-14.2618	14.1046	0.65080	0.0:0.9267:0.0:0.0733	.	217;330	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	T	330;330;330;217	ENSP00000356123:A330T;ENSP00000356124:A330T;ENSP00000442229:A330T;ENSP00000443447:A217T	ENSP00000356123:A330T	A	-	1	0	KLHDC8A	203573215	1.000000	0.71417	0.973000	0.42090	0.426000	0.31534	4.437000	0.59955	1.297000	0.44761	-0.194000	0.12790	GCC		0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		31	770	0	0	0	1	0	31	770				
PUS1	80324	broad.mit.edu	37	12	132426155	132426155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132426155G>A	ENST00000376649.3	+	5	1363	c.863G>A	c.(862-864)aGc>aAc	p.S288N	PUS1_ENST00000440818.2_Missense_Mutation_p.S260N|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000542167.2_Missense_Mutation_p.S235N	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	288					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AAGGGCCAGAGCTTCATGATG	0.607																																					Esophageal Squamous(102;671 2009 17384 45666)	ENST00000542167.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11						c.(703-705)aGc>aAc		pseudouridylate synthase 1							148.0	142.0	144.0					12																	132426155		2203	4300	6503	SO:0001583	missense	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132426155G>A	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.863G>A	12.37:g.132426155G>A	ENSP00000365837:p.Ser288Asn					PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.S260N|PUS1_ENST00000376649.3_Missense_Mutation_p.S288N|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N	p.S235N			Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	4	1457	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		288					A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	c.704G>A	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033607	0.93575	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.17	5.17	0.71159	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89639	0.3861	10	0.87932	D	0	-10.5566	18.6497	0.91427	0.0:0.0:1.0:0.0	.	235;288	F5H1S9;Q9Y606	.;TRUA_HUMAN	N	260;288;260;260;235	ENSP00000392451:S260N;ENSP00000365837:S288N;ENSP00000324726:S260N;ENSP00000400032:S260N;ENSP00000438948:S235N	ENSP00000324726:S260N	S	+	2	0	PUS1	130992108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.405000	0.81733	0.491000	0.48974	AGC		0.607	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		133	584	0	0	0	1	0	133	584				
SIPA1L1	26037	broad.mit.edu	37	14	72165840	72165840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72165840G>A	ENST00000555818.1	+	11	3865	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1173					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCATGCCCGAAGGGTAGTT	0.483																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3517-3519)Gaa>Aaa		signal-induced proliferation-associated 1 like 1							107.0	105.0	105.0					14																	72165840		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72165840G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3517G>A	14.37:g.72165840G>A	ENSP00000450832:p.Glu1173Lys					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K	p.E1173K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	11	3865	+			1173					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3517G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835268	0.32421	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.58	4.7	0.59300	.	0.047490	0.85682	D	0.000000	T	0.40862	0.1134	L	0.42245	1.32	0.58432	D	0.999997	B;P;B;P;B	0.38370	0.276;0.628;0.343;0.525;0.011	B;B;B;B;B	0.23018	0.043;0.039;0.042;0.043;0.002	T	0.45556	-0.9253	10	0.72032	D	0.01	-19.5596	14.4261	0.67218	0.0706:0.0:0.9294:0.0	.	648;1173;648;1173;1173	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1173;1173;1173;648	ENSP00000370630:E1173K;ENSP00000450832:E1173K;ENSP00000351352:E1173K;ENSP00000440682:E648K	ENSP00000351352:E1173K	E	+	1	0	SIPA1L1	71235593	1.000000	0.71417	0.964000	0.40570	0.075000	0.17131	6.778000	0.75043	1.379000	0.46325	-0.251000	0.11542	GAA		0.483	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		59	265	0	0	0	1	0	59	265				
RIMS1	22999	broad.mit.edu	37	6	72889425	72889425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72889425G>T	ENST00000521978.1	+	5	619	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.E207*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	207					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGTACCAAGAGAAAAGAAAGC	0.567																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(619-621)Gaa>Taa		regulating synaptic membrane exocytosis 1							72.0	80.0	78.0					6																	72889425		2051	4206	6257	SO:0001587	stop_gained	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889425G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.619G>T	6.37:g.72889425G>T	ENSP00000428417:p.Glu207*					RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E207*	p.E207*			Q86UR5	RIMS1_HUMAN			5	619	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	207					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.619G>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118274	0.97300	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.6795	19.7321	0.96186	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264839:E207X	E	+	1	0	RIMS1	72946146	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.023000	0.70848	2.668000	0.90789	0.655000	0.94253	GAA		0.567	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			10	409	1	0	2.17888e-05	1	2.22852e-05	10	409				
FAT2	2196	broad.mit.edu	37	5	150947261	150947261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947261C>T	ENST00000261800.5	-	1	1244	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	411	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACCCAGTTCGAGCATTAAG	0.537																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1231-1233)cGa>cAa		FAT atypical cadherin 2							101.0	96.0	97.0					5																	150947261		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947261C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1232G>A	5.37:g.150947261C>T	ENSP00000261800:p.Arg411Gln						p.R411Q	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	411			Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1232G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294508	0.23564	.	.	ENSG00000086570	ENST00000261800	T	0.60920	0.15	5.59	2.72	0.32119	Cadherin (3);Cadherin-like (1);	0.430470	0.22979	N	0.053331	T	0.34454	0.0898	L	0.37466	1.105	0.09310	N	1	P	0.37158	0.585	B	0.25140	0.058	T	0.13656	-1.0501	10	0.13108	T	0.6	.	6.1698	0.20410	0.0:0.4562:0.0:0.5437	.	411	Q9NYQ8	FAT2_HUMAN	Q	411	ENSP00000261800:R411Q	ENSP00000261800:R411Q	R	-	2	0	FAT2	150927454	1.000000	0.71417	0.414000	0.26521	0.891000	0.51852	1.743000	0.38258	0.675000	0.31264	0.561000	0.74099	CGA		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		88	291	0	0	0	1	0	88	291				
PTPRM	5797	broad.mit.edu	37	18	7888369	7888369	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7888369T>G	ENST00000332175.8	+	3	1499	c.462T>G	c.(460-462)ttT>ttG	p.F154L	PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L|PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	154	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGCCTAACTTTTATCAGGTAT	0.348																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(460-462)ttT>ttG		protein tyrosine phosphatase, receptor type, M							64.0	67.0	66.0					18																	7888369		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888369T>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.462T>G	18.37:g.7888369T>G	ENSP00000331418:p.Phe154Leu					PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L|PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L	p.F154L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			3	1499	+		Colorectal(10;0.234)	154			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.462T>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006859	0.74932	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02050	4.48;4.48;4.48	6.07	0.947	0.19555	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.108351	0.64402	D	0.000004	T	0.02494	0.0076	L	0.39633	1.23	0.80722	D	1	P;P	0.45011	0.848;0.848	B;B	0.41036	0.346;0.346	T	0.59742	-0.7397	10	0.46703	T	0.11	.	10.3573	0.43972	0.0:0.333:0.0:0.667	.	154;154	A7MBN1;P28827	.;PTPRM_HUMAN	L	154;154;92	ENSP00000331418:F154L;ENSP00000382933:F154L;ENSP00000382927:F92L	ENSP00000331418:F154L	F	+	3	2	PTPRM	7878369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.280000	0.33202	0.178000	0.19917	0.533000	0.62120	TTT		0.348	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			69	412	0	0	0	1	0	69	412				
SH3PXD2A	9644	broad.mit.edu	37	10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	779					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCTGGCGCCGTAAAGTGCTG	0.647																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2335-2337)Cgg>Tgg		SH3 and PX domains 2A							261.0	251.0	254.0					10																	105362640		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362640G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2335C>T	10.37:g.105362640G>A	ENSP00000358789:p.Arg779Trp					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000427662.2_Intron	p.R779W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2611	-		Colorectal(252;0.0815)|Breast(234;0.131)	779					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2335C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.972366|2.972366	0.53614|0.53614	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.65916|.	-0.17;-0.14;0.02;-0.18|.	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.993;0.993;0.995;0.997|.	T|T	0.60393|0.60393	-0.7272|-0.7272	10|5	0.54805|.	T|.	0.06|.	-25.6182|-25.6182	13.4768|13.4768	0.61314|0.61314	0.0:0.0:0.7006:0.2994|0.0:0.0:0.7006:0.2994	.|.	779;628;624;751|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	W|M	779;751;586;694;646;614|705	ENSP00000358789:R779W;ENSP00000348215:R751W;ENSP00000443663:R646W;ENSP00000441514:R614W|.	ENSP00000318135:R586W|.	R|T	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105352630|105352630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.736000|1.736000	0.38187|0.38187	1.107000|1.107000	0.41642|0.41642	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		316	1416	0	0	0	1	0	316	1416				
PGBD4	161779	broad.mit.edu	37	15	34395531	34395531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395531C>T	ENST00000397766.2	+	1	1258	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	267										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GCAGTACCTCCCGACAAAACG	0.418																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(799-801)Ccg>Tcg		piggyBac transposable element derived 4							70.0	60.0	63.0					15																	34395531		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34395531C>T	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.799C>T	15.37:g.34395531C>T	ENSP00000380872:p.Pro267Ser						p.P267S	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1258	+		all_lung(180;1.76e-08)	267					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.799C>T	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.807889	0.31961	.	.	ENSG00000182405	ENST00000397766	T	0.21543	2.0	0.801	-0.709	0.11237	.	1.950110	0.04017	N	0.299119	T	0.40839	0.1133	M	0.64997	1.995	0.22787	N	0.99874	D	0.76494	0.999	D	0.73708	0.981	T	0.24333	-1.0163	10	0.59425	D	0.04	.	6.0789	0.19931	0.0:0.6757:0.3243:0.0	.	267	Q96DM1	PGBD4_HUMAN	S	267	ENSP00000380872:P267S	ENSP00000380872:P267S	P	+	1	0	PGBD4	32182823	0.678000	0.27586	0.001000	0.08648	0.063000	0.16089	-0.002000	0.12924	-0.187000	0.10516	0.299000	0.19835	CCG		0.418	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			50	231	0	0	0	1	0	50	231				
SPTBN2	6712	broad.mit.edu	37	11	66472170	66472170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66472170G>A	ENST00000533211.1	-	15	2908	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	SPTBN2_ENST00000529997.1_Silent_p.S859S|SPTBN2_ENST00000309996.2_Silent_p.S859S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	859					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCCGGCCTCGCTGAGCATGG	0.706																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(2575-2577)agC>agT		spectrin, beta, non-erythrocytic 2							14.0	13.0	13.0					11																	66472170		2195	4292	6487	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472170G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2577C>T	11.37:g.66472170G>A						SPTBN2_ENST00000529997.1_Silent_p.S859S|SPTBN2_ENST00000309996.2_Silent_p.S859S	p.S859S			O15020	SPTN2_HUMAN			15	2908	-			859					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.2577C>T	CCDS8150.1																																																																																				0.706	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		16	94	0	0	0	1	0	16	94				
PA2G4	5036	broad.mit.edu	37	12	56505030	56505030	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56505030C>A	ENST00000303305.6	+	11	1421	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	334	Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGCGGATAACCAGTGGTCCCT	0.443																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(1000-1002)acC>acA		proliferation-associated 2G4, 38kDa							94.0	88.0	90.0					12																	56505030		2203	4300	6503	SO:0001819	synonymous_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505030C>A	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1002C>A	12.37:g.56505030C>A						PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	p.T334T	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		11	1421	+			334			Necessary for nucleolar localization.		O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	c.1002C>A	CCDS8902.1																																																																																				0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		71	328	1	0	1.43987e-31	1	1.69592e-31	71	328				
LARP1B	55132	broad.mit.edu	37	4	129128500	129128500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129128500C>A	ENST00000326639.6	+	19	2720	c.2509C>A	c.(2509-2511)Ctc>Atc	p.L837I	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I|LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	837						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCAGGAATACCTCTGTAGTTT	0.323																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2509-2511)Ctc>Atc		La ribonucleoprotein domain family, member 1B							59.0	63.0	61.0					4																	129128500		2202	4291	6493	SO:0001583	missense	55132						RNA binding	g.chr4:129128500C>A		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2509C>A	4.37:g.129128500C>A	ENSP00000321997:p.Leu837Ile					LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I	p.L837I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			19	2720	+			837					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.2509C>A	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759944	0.69763	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.04603	3.59;3.59;3.59	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.78223	2.4	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.998	T	0.02156	-1.1204	10	0.87932	D	0	.	17.0318	0.86463	0.0:1.0:0.0:0.0	.	47;256;837	Q659C4-8;Q659C4-5;Q659C4	.;.;LAR1B_HUMAN	I	837;778;256	ENSP00000321997:L837I;ENSP00000264584:L778I;ENSP00000346444:L256I	ENSP00000264584:L778I	L	+	1	0	LARP1B	129347950	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.602000	0.67612	2.211000	0.71520	0.561000	0.74099	CTC		0.323	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		9	281	1	0	5.4927e-09	1	5.7613e-09	9	281				
TRPC1	7220	broad.mit.edu	37	3	142522866	142522866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142522866C>T	ENST00000476941.1	+	11	2291	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	TRPC1_ENST00000273482.6_Missense_Mutation_p.A568V|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	602					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTCTCCTTAGCGCATGTGGCA	0.383																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(1702-1704)gCg>gTg		transient receptor potential cation channel, subfamily C, member 1							119.0	108.0	112.0					3																	142522866		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142522866C>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1805C>T	3.37:g.142522866C>T	ENSP00000419313:p.Ala602Val					TRPC1_ENST00000476941.1_Missense_Mutation_p.A602V	p.A568V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			10	2094	+			602					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.1703C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115998	0.37339	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98567	-5.0;-5.0	5.33	5.33	0.75918	Ion transport (1);	0.051544	0.85682	D	0.000000	D	0.95906	0.8667	N	0.25789	0.76	0.80722	D	1	D;D;B	0.59767	0.966;0.986;0.132	P;P;B	0.51355	0.575;0.667;0.016	D	0.94098	0.7359	10	0.02654	T	1	-23.4818	14.266	0.66118	0.1489:0.8511:0.0:0.0	.	568;602;568	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	V	602;568;121	ENSP00000419313:A602V;ENSP00000273482:A568V	ENSP00000273482:A568V	A	+	2	0	TRPC1	144005556	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.572000	0.82409	2.654000	0.90174	0.650000	0.86243	GCG		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		37	181	0	0	0	1	0	37	181				
SPTBN4	57731	broad.mit.edu	37	19	40978533	40978533	+	Missense_Mutation	SNP	C	C	T	rs139091351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40978533C>T	ENST00000352632.3	+	2	91	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2	Actin-binding.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCCGATGGCGCAGGTACCA	0.597																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(4-6)gCg>gTg		spectrin, beta, non-erythrocytic 4		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	48.0	35.0	40.0		5	5.9	1.0	19	dbSNP_134	40	0,8600		0,0,4300	no	missense	SPTBN4	NM_020971.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2/2565	40978533	1,13005	2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40978533C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5C>T	19.37:g.40978533C>T	ENSP00000263373:p.Ala2Val					SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V	p.A2V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	91	+			2			Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230017	0.39399	2.27E-4	0.0	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.80214	-1.35;-1.28;-1.32	5.91	5.91	0.95273	.	0.229203	0.25991	U	0.027010	D	0.82870	0.5131	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	D	0.84093	0.0391	10	0.59425	D	0.04	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	2;2	Q9H254;Q71S06	SPTN4_HUMAN;.	V	2	ENSP00000263373:A2V;ENSP00000340345:A2V;ENSP00000340741:A2V	ENSP00000340345:A2V	A	+	2	0	SPTBN4	45670373	0.997000	0.39634	1.000000	0.80357	0.175000	0.22909	3.673000	0.54591	2.793000	0.96121	0.655000	0.94253	GCG		0.597	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			18	108	0	0	0	1	0	18	108				
VILL	50853	broad.mit.edu	37	3	38047333	38047333	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38047333C>T	ENST00000283713.6	+	17	2267	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	VILL_ENST00000383759.2_Silent_p.A667A|VILL_ENST00000465644.1_Silent_p.A385A			O15195	VILL_HUMAN	villin-like	667					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGCGGTGGCCTGGGGCCAGG	0.642																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1999-2001)gcC>gcT		villin-like							74.0	80.0	78.0					3																	38047333		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047333C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2001C>T	3.37:g.38047333C>T						VILL_ENST00000383759.2_Silent_p.A667A|VILL_ENST00000465644.1_Silent_p.A385A	p.A667A			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2267	+			667					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.2001C>T	CCDS2670.2																																																																																				0.642	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		17	645	0	0	0	1	0	17	645				
SLC26A8	116369	broad.mit.edu	37	6	35927364	35927364	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35927364T>C	ENST00000490799.1	-	16	2089	c.1736A>G	c.(1735-1737)gAt>gGt	p.D579G	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D579G	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTTTACCATATCAACCTGAAA	0.453																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1735-1737)gAt>gGt		solute carrier family 26 (anion exchanger), member 8							95.0	96.0	96.0					6																	35927364		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35927364T>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1736A>G	6.37:g.35927364T>C	ENSP00000417638:p.Asp579Gly					SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D579G	p.D579G	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			16	2089	-			579			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1736A>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	9.879	1.201168	0.22121	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.87103	-2.21;-2.21;-2.21	5.49	-2.78	0.05859	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.868246	0.10236	N	0.699075	T	0.47173	0.1431	N	0.20685	0.6	0.09310	N	1	B;B;B	0.18461	0.005;0.003;0.028	B;B;B	0.16722	0.011;0.005;0.016	T	0.48990	-0.8985	10	0.02654	T	1	.	6.4329	0.21807	0.0:0.3828:0.1352:0.482	.	579;474;161	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	G	579;474;579	ENSP00000417638:D579G;ENSP00000378100:D474G;ENSP00000347778:D579G	ENSP00000347778:D579G	D	-	2	0	SLC26A8	36035342	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.361000	0.20267	-0.844000	0.04184	-1.437000	0.01076	GAT		0.453	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			17	541	0	0	0	1	0	17	541				
RAPH1	65059	broad.mit.edu	37	2	204313471	204313471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204313471C>T	ENST00000319170.5	-	11	1801	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	501	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGCAATGCGGATCCCATT	0.373																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1501-1503)cGc>cAc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							162.0	145.0	151.0					2																	204313471		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204313471C>T	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1502G>A	2.37:g.204313471C>T	ENSP00000316543:p.Arg501His					RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H|RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H	p.R501H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			11	1801	-			501			PH.		Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1502G>A	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029621	0.93518	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.2	5.2	0.72013	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41194	D	0.000930	D	0.88819	0.6540	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.90902	0.4769	10	0.87932	D	0	-13.2136	18.7336	0.91746	0.0:1.0:0.0:0.0	.	553;553;501	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	H	501;501;553;528;526;553;526;501;528;553;526;501;528	ENSP00000392854:R501H;ENSP00000316543:R501H;ENSP00000363617:R553H;ENSP00000363613:R528H;ENSP00000363612:R526H;ENSP00000311293:R553H;ENSP00000411138:R526H;ENSP00000390578:R501H;ENSP00000397751:R528H;ENSP00000406662:R553H;ENSP00000396711:R501H	ENSP00000311293:R553H	R	-	2	0	RAPH1	204021716	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.770000	0.85390	2.427000	0.82271	0.467000	0.42956	CGC		0.373	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		96	329	0	0	0	1	0	96	329				
FHOD3	80206	broad.mit.edu	37	18	34310720	34310720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34310720G>A	ENST00000359247.4	+	16	2953	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1002T|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1177T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	985	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTAAGATCGCCATTTTGAA	0.398																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3004-3006)Gcc>Acc		formin homology 2 domain containing 3							113.0	102.0	106.0					18																	34310720		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34310720G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2953G>A	18.37:g.34310720G>A	ENSP00000352186:p.Ala985Thr					FHOD3_ENST00000590592.1_Missense_Mutation_p.A1177T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.A985T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T	p.A1002T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			17	3126	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	985			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3004G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.607431	0.96626	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23348	1.91;1.91;1.91	5.6	5.6	0.85130	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.992	T	0.70461	-0.4865	10	0.87932	D	0	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	964;985;1002	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	T	1002;985;964	ENSP00000257209:A1002T;ENSP00000352186:A985T;ENSP00000411430:A964T	ENSP00000257209:A1002T	A	+	1	0	FHOD3	32564718	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.756000	0.98918	2.629000	0.89072	0.557000	0.71058	GCC		0.398	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		29	341	0	0	0	1	0	29	341				
CDCA3	83461	broad.mit.edu	37	12	6958344	6958344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6958344G>A	ENST00000538862.2	-	6	1571	c.670C>T	c.(670-672)Cta>Tta	p.L224L	CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000535406.1_Silent_p.L224L|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000229265.6_Silent_p.L199L|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000604599.1_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3	224					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TTTTCACTTAGGGGTGAAGGC	0.512																																						ENST00000538862.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(670-672)Cta>Tta		cell division cycle associated 3							83.0	72.0	76.0					12																	6958344		2203	4300	6503	SO:0001819	synonymous_variant	83461				cell division|mitosis	cytosol		g.chr12:6958344G>A	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.670C>T	12.37:g.6958344G>A						CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000229265.6_Silent_p.L199L|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000535406.1_Silent_p.L224L	p.L224L			Q99618	CDCA3_HUMAN			6	1571	-			224					A8K5V6|D3DUS6	Silent	SNP	ENST00000538862.2	37	c.670C>T	CCDS8565.1																																																																																				0.512	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		20	192	0	0	0	1	0	20	192				
ADAMTS7	11173	broad.mit.edu	37	15	79058949	79058949	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79058949G>T	ENST00000388820.4	-	19	3514	c.3304C>A	c.(3304-3306)Cct>Act	p.P1102T	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1102					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCGCAGCAGGATGGCTGTGT	0.657																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3304-3306)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 7							12.0	19.0	17.0					15																	79058949		2143	4270	6413	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058949G>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3304C>A	15.37:g.79058949G>T	ENSP00000373472:p.Pro1102Thr						p.P1102T	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3514	-			1102					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3304C>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	9.927	1.213878	0.22289	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	3.47	2.51	0.30379	.	0.313022	0.29987	N	0.010681	T	0.52484	0.1737	M	0.72894	2.215	0.09310	N	1	B	0.22346	0.068	B	0.19148	0.024	T	0.42882	-0.9425	10	0.28530	T	0.3	.	10.5915	0.45312	0.0:0.3802:0.6198:0.0	.	1102	Q9UKP4	ATS7_HUMAN	T	1102	ENSP00000373472:P1102T	ENSP00000373472:P1102T	P	-	1	0	ADAMTS7	76846004	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.030000	0.13688	0.521000	0.28445	0.574000	0.79327	CCT		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		21	169	1	0	5.35356e-11	1	5.69577e-11	21	169				
SLX4	84464	broad.mit.edu	37	16	3641221	3641221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3641221C>A	ENST00000294008.3	-	12	3058	c.2418G>T	c.(2416-2418)gaG>gaT	p.E806D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	806	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTCGCAATTCTCTGCTTCCT	0.532								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2416-2418)gaG>gaT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							127.0	133.0	131.0					16																	3641221		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641221C>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2418G>T	16.37:g.3641221C>A	ENSP00000294008:p.Glu806Asp		OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	612		p.E806D	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3058	-			806			Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2418G>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108645	0.56291	.	.	ENSG00000188827	ENST00000294008	T	0.01295	5.04	5.57	-0.0272	0.13927	.	0.699397	0.14214	N	0.333876	T	0.01092	0.0036	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.47086	-0.9144	10	0.48119	T	0.1	.	2.4889	0.04605	0.1195:0.3225:0.351:0.2071	.	806	Q8IY92	SLX4_HUMAN	D	806	ENSP00000294008:E806D	ENSP00000294008:E806D	E	-	3	2	SLX4	3581222	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-0.177000	0.09796	0.026000	0.15269	0.561000	0.74099	GAG		0.532	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		129	607	1	0	7.75303e-77	1	9.89694e-77	129	607				
TMEM8B	51754	broad.mit.edu	37	9	35842555	35842555	+	Silent	SNP	G	G	A	rs548793454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35842555G>A	ENST00000377991.4	+	7	1135	c.120G>A	c.(118-120)ccG>ccA	p.P40P	TMEM8B_ENST00000377988.2_Silent_p.P40P|TMEM8B_ENST00000377996.1_Silent_p.P40P|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Silent_p.P40P	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	40					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CAGTGCGCCCGACTCTGCGCA	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19123	0.0		0.0	False		,,,				2504	0.0					ENST00000377988.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(118-120)ccG>ccA		transmembrane protein 8B							84.0	67.0	73.0					9																	35842555		2203	4300	6503	SO:0001819	synonymous_variant	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35842555G>A	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.120G>A	9.37:g.35842555G>A						TMEM8B_ENST00000377991.4_Silent_p.P40P|TMEM8B_ENST00000377996.1_Silent_p.P40P|TMEM8B_ENST00000439587.2_Silent_p.P40P|TMEM8B_ENST00000473947.1_Intron	p.P40P	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN			6	1408	+			40					B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	c.120G>A	CCDS43800.1																																																																																				0.657	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		42	207	0	0	0	1	0	42	207				
PGM1	5236	broad.mit.edu	37	1	64120045	64120045	+	Nonsense_Mutation	SNP	C	C	T	rs397515423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64120045C>T	ENST00000371084.3	+	10	1720	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	RN7SL130P_ENST00000489463.2_RNA|PGM1_ENST00000371083.4_Nonsense_Mutation_p.R521*|PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|PGM1_ENST00000483707.1_3'UTR	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	503					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATCGTCTTCCGACTGAGCGG	0.532																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1561-1563)Cga>Tga		phosphoglucomutase 1							78.0	76.0	77.0					1																	64120045		2203	4300	6503	SO:0001587	stop_gained	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64120045C>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1507C>T	1.37:g.64120045C>T	ENSP00000360125:p.Arg503*					PGM1_ENST00000371084.3_Nonsense_Mutation_p.R503*|PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|PGM1_ENST00000483707.1_3'UTR	p.R521*	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			10	1929	+			503					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Nonsense_Mutation	SNP	ENST00000371084.3	37	c.1561C>T	CCDS625.1	.	.	.	.	.	.	.	.	.	.	C	37	6.146605	0.97324	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	.	.	.	5.45	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3083	13.3093	0.60370	0.2968:0.7032:0.0:0.0	.	.	.	.	X	479;503;306;521	.	ENSP00000360124:R521X	R	+	1	2	PGM1	63892633	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	1.134000	0.31442	1.379000	0.46325	0.563000	0.77884	CGA		0.532	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		66	214	0	0	0	1	0	66	214				
ANO2	57101	broad.mit.edu	37	12	6030260	6030260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6030260C>A	ENST00000356134.5	-	3	539	c.468G>T	c.(466-468)gaG>gaT	p.E156D	ANO2_ENST00000327087.8_Missense_Mutation_p.E156D|ANO2_ENST00000546188.1_Missense_Mutation_p.E156D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	160					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTCAAATTCCTCCCGCTGCT	0.607																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(466-468)gaG>gaT		anoctamin 2							110.0	105.0	106.0					12																	6030260		2096	4228	6324	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6030260C>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.468G>T	12.37:g.6030260C>A	ENSP00000348453:p.Glu156Asp					ANO2_ENST00000356134.5_Missense_Mutation_p.E156D|ANO2_ENST00000546188.1_Missense_Mutation_p.E156D	p.E156D			Q9NQ90	ANO2_HUMAN			3	539	-			160					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.468G>T		.	.	.	.	.	.	.	.	.	.	C	10.92	1.487384	0.26686	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.67171	-0.25;-0.25;-0.25	4.84	0.727	0.18254	.	0.233174	0.36591	N	0.002519	T	0.45696	0.1355	L	0.29908	0.895	0.38548	D	0.949394	B	0.16603	0.018	B	0.20184	0.028	T	0.18023	-1.0350	10	0.41790	T	0.15	.	1.6431	0.02756	0.1484:0.4665:0.1359:0.2493	.	156	Q9NQ90-3	.	D	156;156;156;160	ENSP00000314048:E156D;ENSP00000348453:E156D;ENSP00000440981:E156D	ENSP00000314048:E156D	E	-	3	2	ANO2	5900521	0.879000	0.30193	0.996000	0.52242	0.849000	0.48306	-0.160000	0.10041	-0.157000	0.11059	-0.253000	0.11424	GAG		0.607	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		57	264	1	0	3.76997e-23	1	4.28119e-23	57	264				
LMTK2	22853	broad.mit.edu	37	7	97822802	97822802	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97822802C>A	ENST00000297293.5	+	11	3318	c.3025C>A	c.(3025-3027)Cta>Ata	p.L1009I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1009					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACGAAGCGCTACTGGACTC	0.587																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3025-3027)Cta>Ata		lemur tyrosine kinase 2							98.0	106.0	104.0					7																	97822802		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822802C>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3025C>A	7.37:g.97822802C>A	ENSP00000297293:p.Leu1009Ile						p.L1009I	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3318	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1009					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3025C>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	3.829	-0.036078	0.07497	.	.	ENSG00000164715	ENST00000297293	T	0.78126	-1.15	5.03	-2.43	0.06522	.	0.495348	0.19662	N	0.108944	T	0.66396	0.2785	L	0.48362	1.52	0.09310	N	1	P	0.42456	0.78	B	0.40636	0.335	T	0.61476	-0.7055	10	0.16896	T	0.51	.	12.0446	0.53473	0.0:0.6114:0.0:0.3886	.	1009	Q8IWU2	LMTK2_HUMAN	I	1009	ENSP00000297293:L1009I	ENSP00000297293:L1009I	L	+	1	2	LMTK2	97660738	0.012000	0.17670	0.000000	0.03702	0.004000	0.04260	0.226000	0.17776	-0.627000	0.05589	-0.312000	0.09012	CTA		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		160	603	1	0	2.44665e-68	1	3.10229e-68	160	603				
DIDO1	11083	broad.mit.edu	37	20	61511392	61511392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61511392G>A	ENST00000266070.4	-	16	6241	c.5916C>T	c.(5914-5916)gtC>gtT	p.V1972V	DIDO1_ENST00000395343.1_Silent_p.V1972V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1972	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGTGAATGGACCCTCTGGT	0.562																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5914-5916)gtC>gtT		death inducer-obliterator 1							131.0	153.0	146.0					20																	61511392		2203	4298	6501	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511392G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5916C>T	20.37:g.61511392G>A						DIDO1_ENST00000395343.1_Silent_p.V1972V	p.V1972V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6241	-	Breast(26;5.68e-08)		1972			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5916C>T	CCDS33506.1																																																																																				0.562	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		248	1165	0	0	0	1	0	248	1165				
SARDH	1757	broad.mit.edu	37	9	136561447	136561447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136561447C>T	ENST00000371872.4	-	14	1962	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000422262.2_Missense_Mutation_p.A401T|SARDH_ENST00000439388.1_Missense_Mutation_p.A569T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	569					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCAAACACAGCGGCGGCCCCT	0.592																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1705-1707)Gct>Act		sarcosine dehydrogenase							80.0	75.0	77.0					9																	136561447		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136561447C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1705G>A	9.37:g.136561447C>T	ENSP00000360938:p.Ala569Thr					SARDH_ENST00000422262.2_Missense_Mutation_p.A401T|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.A569T	p.A569T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	14	1962	-			569					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1705G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319000	0.95682	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.84873	-1.91;-1.91;-1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	M	0.80422	2.495	0.80722	D	1	D	0.62365	0.991	P	0.58520	0.84	D	0.91965	0.5582	10	0.52906	T	0.07	-14.4574	18.4371	0.90650	0.0:1.0:0.0:0.0	.	569	Q9UL12	SARDH_HUMAN	T	569;569;401;569	ENSP00000360938:A569T;ENSP00000403084:A569T;ENSP00000415537:A401T	ENSP00000360938:A569T	A	-	1	0	SARDH	135551268	1.000000	0.71417	0.094000	0.20943	0.832000	0.47134	4.809000	0.62591	2.410000	0.81850	0.655000	0.94253	GCT		0.592	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			9	414	0	0	0	1	0	9	414				
STAB1	23166	broad.mit.edu	37	3	52556666	52556666	+	Missense_Mutation	SNP	G	G	A	rs374832817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556666G>A	ENST00000321725.6	+	61	6782	c.6706G>A	c.(6706-6708)Gtc>Atc	p.V2236I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2236	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGAGCCGTCCTTGCTTC	0.617																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6706-6708)Gtc>Atc		stabilin 1		G	ILE/VAL	0,4404		0,0,2202	67.0	71.0	70.0		6706	4.9	0.3	3		70	2,8596	2.2+/-6.3	0,2,4297	no	missense	STAB1	NM_015136.2	29	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign	2236/2571	52556666	2,13000	2202	4299	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556666G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6706G>A	3.37:g.52556666G>A	ENSP00000312946:p.Val2236Ile						p.V2236I	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	61	6782	+			2236			Link.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6706G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660584	0.47572	0.0	2.33E-4	ENSG00000010327	ENST00000321725	T	0.30714	1.52	5.85	4.93	0.64822	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.903033	0.09601	N	0.780141	T	0.31040	0.0784	L	0.39514	1.22	0.09310	N	1	P;D	0.54772	0.862;0.968	B;P	0.45971	0.176;0.499	T	0.09530	-1.0670	10	0.39692	T	0.17	.	10.4845	0.44713	0.0728:0.1362:0.791:0.0	.	123;2236	B3KSK0;Q9NY15	.;STAB1_HUMAN	I	2236	ENSP00000312946:V2236I	ENSP00000312946:V2236I	V	+	1	0	STAB1	52531706	0.000000	0.05858	0.269000	0.24586	0.376000	0.30014	0.803000	0.27083	2.771000	0.95319	0.561000	0.74099	GTC		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		119	487	0	0	0	1	0	119	487				
RUFY3	22902	broad.mit.edu	37	4	71650581	71650581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71650581G>T	ENST00000226328.4	+	10	1619	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D|RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	352					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TAAAAGAAGAGACACAATTAC	0.338																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(1054-1056)gaG>gaT		RUN and FYVE domain containing 3							66.0	60.0	62.0					4																	71650581		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71650581G>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1056G>T	4.37:g.71650581G>T	ENSP00000226328:p.Glu352Asp					RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D|RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D	p.E352D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		10	1619	+		all_hematologic(202;0.248)	352					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.1056G>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179929	0.57800	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.75	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.61218	1.895	0.58432	D	0.999993	B;D;D;D	0.89917	0.362;1.0;0.984;0.957	B;D;D;P	0.76071	0.217;0.987;0.935;0.723	T	0.01280	-1.1397	10	0.62326	D	0.03	-28.1233	10.1524	0.42803	0.3772:0.0:0.6228:0.0	.	336;352;352;412	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	D	412;352;352;336;299	ENSP00000399771:E412D;ENSP00000370394:E352D;ENSP00000226328:E352D;ENSP00000443652:E336D;ENSP00000425400:E299D	ENSP00000226328:E352D	E	+	3	2	RUFY3	71869445	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.523000	0.35932	0.460000	0.27045	0.650000	0.86243	GAG		0.338	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		14	70	1	0	1.3612e-06	1	1.40558e-06	14	70				
NPHP4	261734	broad.mit.edu	37	1	6046288	6046288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046288G>A	ENST00000378156.4	-	2	327	c.62C>T	c.(61-63)gCg>gTg	p.A21V	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	21					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGCGCGCTCTCTGTGG	0.577																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(61-63)gCg>gTg		nephronophthisis 4							64.0	70.0	68.0					1																	6046288		2048	4186	6234	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6046288G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.62C>T	1.37:g.6046288G>A	ENSP00000367398:p.Ala21Val					NPHP4_ENST00000478423.2_Intron	p.A21V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	2	327	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	21					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.62C>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667150	0.47677	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.71	2.58	0.30949	.	0.521925	0.18213	N	0.148132	D	0.85864	0.5796	L	0.31664	0.95	0.24460	N	0.994448	D	0.76494	0.999	P	0.59357	0.856	T	0.76621	-0.2892	10	0.28530	T	0.3	.	10.9578	0.47368	0.0895:0.1727:0.7378:0.0	.	21	O75161	NPHP4_HUMAN	V	21	ENSP00000367398:A21V	ENSP00000367398:A21V	A	-	2	0	NPHP4	5968875	0.001000	0.12720	0.914000	0.36105	0.339000	0.28857	-0.158000	0.10070	0.733000	0.32492	0.655000	0.94253	GCG		0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			9	117	0	0	0	1	0	9	117				
OR5M3	219482	broad.mit.edu	37	11	56237249	56237249	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237249T>C	ENST00000312240.2	-	1	765	c.725A>G	c.(724-726)cAt>cGt	p.H242R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGCTGTCAGATGGGACCCACA	0.473																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(724-726)cAt>cGt		olfactory receptor, family 5, subfamily M, member 3							59.0	57.0	58.0					11																	56237249		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237249T>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.725A>G	11.37:g.56237249T>C	ENSP00000312208:p.His242Arg						p.H242R	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	765	-	Esophageal squamous(21;0.00448)		242					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.725A>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024257	0.75390	.	.	ENSG00000174937	ENST00000312240	T	0.00311	8.15	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000482	T	0.01222	0.0040	H	0.98238	4.18	0.42064	D	0.991172	D	0.76494	0.999	D	0.78314	0.991	T	0.17992	-1.0351	10	0.72032	D	0.01	-15.4185	12.8019	0.57591	0.0:0.0:0.0:1.0	.	242	Q8NGP4	OR5M3_HUMAN	R	242	ENSP00000312208:H242R	ENSP00000312208:H242R	H	-	2	0	OR5M3	55993825	1.000000	0.71417	0.900000	0.35374	0.964000	0.63967	5.910000	0.69931	1.897000	0.54924	0.448000	0.29417	CAT		0.473	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		63	277	0	0	0	1	0	63	277				
UBXN4	23190	broad.mit.edu	37	2	136513182	136513182	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136513182T>G	ENST00000272638.9	+	5	740	c.429T>G	c.(427-429)acT>acG	p.T143T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	143					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTAACAACACTTGTGAAAACT	0.398																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(427-429)acT>acG		UBX domain protein 4							104.0	99.0	101.0					2																	136513182		1852	4116	5968	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136513182T>G	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.429T>G	2.37:g.136513182T>G						UBXN4_ENST00000490163.1_3'UTR	p.T143T	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			5	740	+			143					A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.429T>G	CCDS42761.1																																																																																				0.398	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		90	250	0	0	0	1	0	90	250				
A4GALT	53947	broad.mit.edu	37	22	43089256	43089256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43089256C>T	ENST00000401850.1	-	2	1191	c.702G>A	c.(700-702)atG>atA	p.M234I	A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I|A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I|A4GALT_ENST00000465765.2_5'Flank			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	234					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CGAAGTCCCGCATGCACAGCG	0.652																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(700-702)atG>atA		alpha 1,4-galactosyltransferase							23.0	19.0	20.0					22																	43089256		2197	4298	6495	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089256C>T		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.702G>A	22.37:g.43089256C>T	ENSP00000384794:p.Met234Ile					A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I|A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I	p.M234I			Q9NPC4	A4GAT_HUMAN			2	1191	-			234					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.702G>A	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786510	0.49997	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.70749	-0.51;-0.51;-0.51	5.13	4.11	0.48088	Alpha 1,4-glycosyltransferase domain (1);	0.082662	0.49916	D	0.000121	T	0.53578	0.1805	N	0.16903	0.455	0.32743	N	0.507462	B	0.10296	0.003	B	0.14023	0.01	T	0.57118	-0.7866	10	0.30078	T	0.28	-9.3769	12.372	0.55260	0.0:0.9157:0.0:0.0843	.	234	Q9NPC4	A4GAT_HUMAN	I	234	ENSP00000384794:M234I;ENSP00000249005:M234I;ENSP00000370678:M234I	ENSP00000249005:M234I	M	-	3	0	A4GALT	41419200	0.995000	0.38212	0.985000	0.45067	0.975000	0.68041	2.988000	0.49386	1.143000	0.42306	0.561000	0.74099	ATG		0.652	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		7	149	0	0	0	1	0	7	149				
LINC00886	730091	broad.mit.edu	37	3	156527319	156527319	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156527319C>T	ENST00000472943.1	-	0	148					NR_038387.1				long intergenic non-protein coding RNA 886																		GAGCAGCAAGCTGGGGAGATG	0.562																																						ENST00000472943.1																			0																																																			0							g.chr3:156527319C>T			3q25.31	2013-05-17			ENSG00000240875	ENSG00000240875		"""Long non-coding RNAs"""	48572	non-coding RNA	RNA, long non-coding							Standard	NR_038387		Approved				OTTHUMG00000158647		3.37:g.156527319C>T								NR_038387.1						0	148	-									RNA	SNP	ENST00000472943.1	37																																																																																						0.562	LINC00886-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351622.1			43	153	0	0	0	1	0	43	153				
UFSP2	55325	broad.mit.edu	37	4	186329507	186329507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329507C>T	ENST00000264689.6	-	8	1030	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	305						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTGCAGAGATCGATAAGCACA	0.428																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(913-915)cGa>cAa		UFM1-specific peptidase 2							132.0	117.0	122.0					4																	186329507		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329507C>T	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.914G>A	4.37:g.186329507C>T	ENSP00000264689:p.Arg305Gln						p.R305Q	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	8	1030	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	305					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.914G>A	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.235189|5.235189	0.95207|0.95207	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.41400	.|1.0	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79287|0.79287	0.4420|0.4420	H|H	0.97611|0.97611	4.04|4.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.85593|0.85593	0.1247|0.1247	5|10	.|0.87932	.|D	.|0	-8.9285|-8.9285	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|305;205	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	N|Q	34|305	.|ENSP00000264689:R305Q	.|ENSP00000264689:R305Q	D|R	-|-	1|2	0|0	UFSP2|UFSP2	186566501|186566501	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.712000|0.712000	0.41017|0.41017	7.478000|7.478000	0.81082|0.81082	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.428	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		37	380	0	0	0	1	0	37	380				
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092004	139092004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139092004C>T	ENST00000354926.4	+	6	949	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.L196F|LUC7L2_ENST00000541515.3_Missense_Mutation_p.L265F|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.L198F	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		CTATTTAGGACTTCATGATAA	0.403																																						ENST00000354926.4																			0											c.(595-597)Ctt>Ttt									96.0	89.0	92.0					7																	139092004		1822	4083	5905	SO:0001583	missense	0							g.chr7:139092004C>T		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.595C>T	7.37:g.139092004C>T	ENSP00000347005:p.Leu199Phe					LUC7L2_ENST00000541515.3_Missense_Mutation_p.L265F|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.L196F|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.L198F	p.L199F	NM_016019.3	NP_057103.2					6	949	+									Missense_Mutation	SNP	ENST00000354926.4	37	c.595C>T	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399688	0.96030	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.49139	1.54;1.54;1.54;0.79	5.84	5.84	0.93424	.	0.056875	0.64402	D	0.000001	T	0.72518	0.3470	M	0.79805	2.47	0.53005	D	0.999960	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;D;D;D	0.81914	0.995;0.985;0.974;0.992	T	0.73642	-0.3918	9	0.59425	D	0.04	-8.0444	20.1336	0.98010	0.0:1.0:0.0:0.0	.	265;196;198;199	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	F	196;265;199;199;198	ENSP00000441604:L196F;ENSP00000440222:L265F;ENSP00000347005:L199F;ENSP00000263545:L198F	ENSP00000263545:L198F	L	+	1	0	LUC7L2	138742544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.767000	0.95098	0.591000	0.81541	CTT		0.403	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			53	283	0	0	0	1	0	53	283				
CSPG4	1464	broad.mit.edu	37	15	75975290	75975290	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75975290C>T	ENST00000308508.5	-	6	4634	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1514	Gly/Ser-rich (glycosaminoglycan attachment domain).				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGGGCTGCTCGATGGTGT	0.692																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(4540-4542)gaG>gaA		chondroitin sulfate proteoglycan 4							19.0	20.0	20.0					15																	75975290		2190	4289	6479	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75975290C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4542G>A	15.37:g.75975290C>T							p.E1514E	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			6	4634	-			1514			Gly/Ser-rich (glycosaminoglycan attachment domain).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.4542G>A	CCDS10284.1																																																																																				0.692	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		45	146	0	0	0	1	0	45	146				
XRCC5	7520	broad.mit.edu	37	2	216977824	216977824	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216977824A>G	ENST00000392133.3	+	4	568	c.107A>G	c.(106-108)aAg>aGg	p.K36R	XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	36					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAAGCAAAGAAGGTGATAACC	0.438								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(106-108)aAg>aGg	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							147.0	145.0	145.0					2																	216977824		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216977824A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.107A>G	2.37:g.216977824A>G	ENSP00000375978:p.Lys36Arg					XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R	p.K36R			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	4	568	+		Renal(323;0.0328)	36					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.107A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486462	0.26686	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.29917	1.55;1.55	5.12	5.12	0.69794	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.69248	2.105	0.80722	D	1	B	0.27625	0.183	B	0.29353	0.101	T	0.12400	-1.0549	10	0.36615	T	0.2	.	14.249	0.66007	1.0:0.0:0.0:0.0	.	36	P13010	XRCC5_HUMAN	R	36;36;23	ENSP00000375978:K36R;ENSP00000375977:K36R	ENSP00000375977:K36R	K	+	2	0	XRCC5	216686069	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	6.704000	0.74639	2.150000	0.67090	0.533000	0.62120	AAG		0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		73	371	0	0	0	1	0	73	371				
KIF11	3832	broad.mit.edu	37	10	94373174	94373174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94373174C>T	ENST00000260731.3	+	8	920	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	277	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCTGGAGCTGTTGATAAG	0.378																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(829-831)gCt>gTt		kinesin family member 11							72.0	71.0	72.0					10																	94373174		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94373174C>T	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.830C>T	10.37:g.94373174C>T	ENSP00000260731:p.Ala277Val						p.A277V	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			8	920	+			277			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.830C>T	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395280	0.96009	.	.	ENSG00000138160	ENST00000260731	D	0.86164	-2.08	5.82	5.82	0.92795	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92655	0.6136	10	0.72032	D	0.01	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	277	P52732	KIF11_HUMAN	V	277	ENSP00000260731:A277V	ENSP00000260731:A277V	A	+	2	0	KIF11	94363154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.849000	0.69465	2.745000	0.94114	0.655000	0.94253	GCT		0.378	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		34	154	0	0	0	1	0	34	154				
TBC1D2	55357	broad.mit.edu	37	9	100965573	100965573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100965573G>A	ENST00000375064.1	-	10	2306	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TBC1D2_ENST00000342112.5_Silent_p.S538S|TBC1D2_ENST00000375066.5_Silent_p.S756S|TBC1D2_ENST00000375063.1_Silent_p.S296S	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	756	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CACTTACCTGGGATGCCGTCA	0.582																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2266-2268)tcC>tcT		TBC1 domain family, member 2							125.0	112.0	117.0					9																	100965573		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100965573G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2268C>T	9.37:g.100965573G>A						TBC1D2_ENST00000342112.5_Silent_p.S538S|TBC1D2_ENST00000375064.1_Silent_p.S756S|TBC1D2_ENST00000375063.1_Silent_p.S296S	p.S756S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	10	2359	-		Myeloproliferative disorder(762;0.0255)	756			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.2268C>T																																																																																					0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		90	491	0	0	0	1	0	90	491				
MARCO	8685	broad.mit.edu	37	2	119699912	119699912	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119699912C>A	ENST00000327097.4	+	1	171	c.36C>A	c.(34-36)ctC>ctA	p.L12L	MARCO_ENST00000541757.1_De_novo_Start_OutOfFrame	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	12					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.L12L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGACGAGCTCTTGAGTGAGA	0.438																																					GBM(8;18 374 7467 11269 32796)	ENST00000541757.1																			1	Substitution - coding silent(1)	p.L12L(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70								macrophage receptor with collagenous structure							96.0	96.0	96.0					2																	119699912		2203	4300	6503	SO:0001819	synonymous_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119699912C>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.36C>A	2.37:g.119699912C>A						MARCO_ENST00000327097.4_Silent_p.L12L				Q9UEW3	MARCO_HUMAN			0	49	+								B4DW79|Q9Y5S3	Translation_Start_Site	SNP	ENST00000327097.4	37		CCDS2124.1																																																																																				0.438	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		103	266	1	0	2.12867e-53	1	2.65328e-53	103	266				
RHOT2	89941	broad.mit.edu	37	16	720170	720170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:720170G>A	ENST00000315082.4	+	6	438	c.324G>A	c.(322-324)ggG>ggA	p.G108G	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	108	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCACGCAGGGGCCCAGGTAAT	0.632																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(322-324)ggG>ggA		ras homolog family member T2							39.0	42.0	41.0					16																	720170		2195	4296	6491	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:720170G>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.324G>A	16.37:g.720170G>A						RHOT2_ENST00000569943.2_3'UTR	p.G108G	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			6	438	+		Hepatocellular(780;0.0218)	108			Miro 1.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.324G>A	CCDS10417.1																																																																																				0.632	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		54	261	0	0	0	1	0	54	261				
GUCY1A3	2982	broad.mit.edu	37	4	156631699	156631699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156631699C>T	ENST00000296518.7	+	6	591	c.382C>T	c.(382-384)Cca>Tca	p.P128S	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	128					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCAGGAGTTCCAGTGGAGGT	0.388																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(382-384)Cca>Tca		guanylate cyclase 1, soluble, alpha 3							65.0	70.0	69.0					4																	156631699		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631699C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.382C>T	4.37:g.156631699C>T	ENSP00000296518:p.Pro128Ser					GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000393832.3_5'UTR	p.P128S			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	591	+	all_hematologic(180;0.24)	Renal(120;0.0854)	128					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.382C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010766	0.35511	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.38	4.52	0.55395	Heme-NO binding (1);	0.095478	0.46442	D	0.000289	T	0.41143	0.1146	M	0.70275	2.135	0.51012	D	0.999901	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.21546	0.035;0.035;0.035	T	0.43572	-0.9383	10	0.02654	T	1	.	16.267	0.82593	0.0:0.867:0.133:0.0	.	128;128;128	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	S	128	ENSP00000424361:P128S;ENSP00000421493:P128S;ENSP00000426968:P128S;ENSP00000412201:P128S;ENSP00000296518:P128S;ENSP00000426040:P128S	ENSP00000296518:P128S	P	+	1	0	GUCY1A3	156851149	1.000000	0.71417	0.049000	0.19019	0.618000	0.37518	4.260000	0.58835	1.351000	0.45789	0.650000	0.86243	CCA		0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			46	233	0	0	0	1	0	46	233				
ITSN1	6453	broad.mit.edu	37	21	35247768	35247768	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35247768G>T	ENST00000381318.3	+	34	4572	c.4284G>T	c.(4282-4284)gaG>gaT	p.E1428D	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1428					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGGAGAAGGAGAACTCTGACC	0.637																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4282-4284)gaG>gaT		intersectin 1 (SH3 domain protein)							96.0	87.0	90.0					21																	35247768		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35247768G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4284G>T	21.37:g.35247768G>T	ENSP00000370719:p.Glu1428Asp					ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D	p.E1428D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			34	4572	+			1428					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4284G>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985555	0.74589	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000415023	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.59	3.79	0.43588	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.61387	1.9	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.44990	0.466;0.466	T	0.28170	-1.0052	10	0.46703	T	0.11	.	9.1763	0.37114	0.2853:0.0:0.7147:0.0	.	1423;1428	A8CTX8;Q15811	.;ITSN1_HUMAN	D	1428;1428;1357;1423;35	ENSP00000370719:E1428D;ENSP00000370685:E1428D;ENSP00000382301:E1423D;ENSP00000409800:E35D	ENSP00000370685:E1428D	E	+	3	2	ITSN1	34169638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.788000	0.26872	0.717000	0.32145	0.655000	0.94253	GAG		0.637	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		93	382	1	0	1.2711e-46	1	1.5624e-46	93	382				
JTB	10899	broad.mit.edu	37	1	153947167	153947167	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153947167G>A	ENST00000271843.4	-	5	864	c.429C>T	c.(427-429)atC>atT	p.I143I	JTB_ENST00000356648.1_Silent_p.I114I|JTB_ENST00000368589.1_Silent_p.I114I|JTB_ENST00000471173.1_5'Flank	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	143					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATATGGACTCGATTTGCTTCC	0.478																																						ENST00000271843.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(427-429)atC>atT		jumping translocation breakpoint							146.0	137.0	140.0					1																	153947167		2203	4300	6503	SO:0001819	synonymous_variant	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153947167G>A	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.429C>T	1.37:g.153947167G>A						JTB_ENST00000356648.1_Silent_p.I114I|JTB_ENST00000368589.1_Silent_p.I114I	p.I143I	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	864	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		143					O95442|Q6IB19|Q9P0Q4	Silent	SNP	ENST00000271843.4	37	c.429C>T	CCDS1057.1																																																																																				0.478	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		59	623	0	0	0	1	0	59	623				
TNFRSF19	55504	broad.mit.edu	37	13	24243246	24243246	+	Nonsense_Mutation	SNP	C	C	T	rs201826458		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24243246C>T	ENST00000382258.4	+	9	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_ENST00000382263.3_Intron|TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000403372.2_Intron	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	419					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGTAAGGCAGCGACTGGGTTC	0.493																																						ENST00000382258.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1255-1257)Cga>Tga		tumor necrosis factor receptor superfamily, member 19		C	,,stop/ARG,	0,4406		0,0,2203	42.0	38.0	39.0		,,1255,	-7.6	0.0	13		39	2,8598	2.2+/-6.3	0,2,4298	yes	intron,intron,stop-gained,intron	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	,,419/424,	24243246	2,13004	2203	4300	6503	SO:0001587	stop_gained	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24243246C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.1255C>T	13.37:g.24243246C>T	ENSP00000371693:p.Arg419*					TNFRSF19_ENST00000403372.2_Intron|TNFRSF19_ENST00000382263.3_Intron|TNFRSF19_ENST00000248484.4_Intron	p.R419*	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	9	1459	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	419					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Nonsense_Mutation	SNP	ENST00000382258.4	37	c.1255C>T	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089515	0.55968	0.0	2.33E-4	ENSG00000127863	ENST00000382258	.	.	.	4.87	-7.61	0.01299	.	2.738200	0.02019	N	0.047642	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8221	11.7108	0.51625	0.0:0.631:0.1263:0.2426	.	.	.	.	X	419	.	.	R	+	1	2	TNFRSF19	23141246	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.506000	0.02271	-1.276000	0.02414	-0.302000	0.09304	CGA		0.493	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		22	170	0	0	0	1	0	22	170				
RGS12	6002	broad.mit.edu	37	4	3432402	3432402	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3432402C>A	ENST00000344733.5	+	17	4738	c.3834C>A	c.(3832-3834)gcC>gcA	p.A1278A	RGS12_ENST00000382788.3_Silent_p.A1278A|RGS12_ENST00000338806.4_Silent_p.A630A|RGS12_ENST00000336727.3_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1278					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGGCTCAGCCTCCAGCCCCC	0.741																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3832-3834)gcC>gcA		regulator of G-protein signaling 12							10.0	12.0	11.0					4																	3432402		2181	4260	6441	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432402C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3834C>A	4.37:g.3432402C>A						RGS12_ENST00000338806.4_Silent_p.A630A|RGS12_ENST00000382788.3_Silent_p.A1278A|RGS12_ENST00000344733.5_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR	p.A1278A	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4738	+			1278					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.3834C>A	CCDS3366.1																																																																																				0.741	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		18	78	1	0	6.94344e-10	1	7.33246e-10	18	78				
OTOP3	347741	broad.mit.edu	37	17	72937646	72937646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72937646C>T	ENST00000328801.4	+	2	232	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	78						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTGCTGCTGCGGCGGGACCG	0.652																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(232-234)Cgg>Tgg		otopetrin 3							24.0	29.0	28.0					17																	72937646		2200	4297	6497	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937646C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.232C>T	17.37:g.72937646C>T	ENSP00000328090:p.Arg78Trp						p.R78W	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			2	232	+	all_lung(278;0.151)|Lung NSC(278;0.185)		78						Missense_Mutation	SNP	ENST00000328801.4	37	c.232C>T	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301549	0.60195	.	.	ENSG00000182938	ENST00000328801	T	0.10099	2.91	4.86	4.86	0.63082	.	0.227351	0.26166	N	0.025943	T	0.28995	0.0720	L	0.57536	1.79	0.41707	D	0.989438	D	0.89917	1.0	D	0.67725	0.953	T	0.02161	-1.1203	10	0.87932	D	0	-14.6963	16.1603	0.81700	0.0:1.0:0.0:0.0	.	78	Q7RTS5	OTOP3_HUMAN	W	78	ENSP00000328090:R78W	ENSP00000328090:R78W	R	+	1	2	OTOP3	70449241	0.908000	0.30866	0.997000	0.53966	0.243000	0.25628	1.560000	0.36331	2.230000	0.72887	0.462000	0.41574	CGG		0.652	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		30	147	0	0	0	1	0	30	147				
AP5M1	55745	broad.mit.edu	37	14	57752979	57752979	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57752979T>G	ENST00000261558.3	+	7	1738	c.1332T>G	c.(1330-1332)tgT>tgG	p.C444W	AP5M1_ENST00000431972.2_Missense_Mutation_p.C458W	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	444	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											TTACTGGATGTTATGCAGATC	0.323																																						ENST00000261558.3																			0											c.(1330-1332)tgT>tgG		adaptor-related protein complex 5, mu 1 subunit							172.0	169.0	170.0					14																	57752979		2203	4297	6500	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57752979T>G	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1332T>G	14.37:g.57752979T>G	ENSP00000261558:p.Cys444Trp					AP5M1_ENST00000431972.2_Missense_Mutation_p.C458W	p.C444W	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN			7	1738	+			444			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.1332T>G	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851156	0.71719	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.19394	2.15;2.15	5.65	5.65	0.86999	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50709	-0.8796	10	0.72032	D	0.01	.	15.8539	0.78960	0.0:0.0:0.0:1.0	.	444	Q9H0R1	MUDEN_HUMAN	W	444;458	ENSP00000261558:C444W;ENSP00000390531:C458W	ENSP00000261558:C444W	C	+	3	2	MUDENG	56822732	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	2.850000	0.48294	2.143000	0.66587	0.477000	0.44152	TGT		0.323	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		82	412	0	0	0	1	0	82	412				
DSCAML1	57453	broad.mit.edu	37	11	117303203	117303203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117303203T>G	ENST00000321322.6	-	30	5225	c.5224A>C	c.(5224-5226)Atc>Ctc	p.I1742L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1682					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCACAGGGATGGTGGCCTTG	0.488																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5224-5226)Atc>Ctc		Down syndrome cell adhesion molecule like 1							186.0	147.0	160.0					11																	117303203		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117303203T>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5224A>C	11.37:g.117303203T>G	ENSP00000315465:p.Ile1742Leu					DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	p.I1742L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	30	5225	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1682					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5224A>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674435	0.47781	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.62364	0.07;0.03	5.54	5.54	0.83059	.	.	.	.	.	T	0.40522	0.1120	N	0.08118	0	0.39866	D	0.973441	B	0.06786	0.001	B	0.10450	0.005	T	0.34725	-0.9817	9	0.27785	T	0.31	.	10.5674	0.45181	0.1441:0.0:0.0:0.8559	.	1682	Q8TD84	DSCL1_HUMAN	L	1472;1742;1449	ENSP00000434335:I1472L;ENSP00000315465:I1742L	ENSP00000315465:I1742L	I	-	1	0	DSCAML1	116808413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.692000	0.47018	2.097000	0.63578	0.482000	0.46254	ATC		0.488	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		57	349	0	0	0	1	0	57	349				
SEC16A	9919	broad.mit.edu	37	9	139371010	139371010	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371010G>T	ENST00000371706.3	-	1	557	c.524C>A	c.(523-525)gCt>gAt	p.A175D	SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000313050.7_Missense_Mutation_p.A353D|SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	175					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCGGCCCCAGCCCCCAGTGG	0.602																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1057-1059)gCt>gAt		SEC16 homolog A (S. cerevisiae)							16.0	17.0	17.0					9																	139371010		1844	4088	5932	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371010G>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.524C>A	9.37:g.139371010G>T	ENSP00000360771:p.Ala175Asp					SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000371706.3_Missense_Mutation_p.A175D|SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D	p.A353D	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1131	-		Myeloproliferative disorder(178;0.0511)	175					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.1058C>A		.	.	.	.	.	.	.	.	.	.	G	18.46	3.628865	0.67015	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.26518	1.73;1.73;1.73;1.74	5.21	4.31	0.51392	.	0.471361	0.19691	N	0.108264	T	0.38665	0.1049	M	0.65975	2.015	0.58432	D	0.999997	P;D;D	0.53462	0.933;0.96;0.96	P;P;P	0.52856	0.518;0.711;0.711	T	0.13176	-1.0519	10	0.28530	T	0.3	-4.6305	13.4519	0.61176	0.0763:0.0:0.9237:0.0	.	353;175;175	F1T0I1;O15027-5;O15027-4	.;.;.	D	353;175;175;175	ENSP00000325827:A353D;ENSP00000360771:A175D;ENSP00000290037:A175D;ENSP00000387583:A175D	ENSP00000290037:A175D	A	-	2	0	SEC16A	138490831	0.018000	0.18449	0.008000	0.14137	0.032000	0.12392	1.957000	0.40392	1.326000	0.45319	0.655000	0.94253	GCT		0.602	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		27	103	1	0	4.7796e-09	1	5.01584e-09	27	103				
CSTF3	1479	broad.mit.edu	37	11	33117913	33117913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33117913T>G	ENST00000323959.4	-	15	1453	c.1314A>C	c.(1312-1314)aaA>aaC	p.K438N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	438					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTCCATATTTTTTTAGCCCCA	0.328																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1312-1314)aaA>aaC		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							62.0	69.0	66.0					11																	33117913		2202	4296	6498	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33117913T>G	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1314A>C	11.37:g.33117913T>G	ENSP00000315791:p.Lys438Asn					TCP11L1_ENST00000324357.9_Intron	p.K438N	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			15	1453	-			438					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1314A>C	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543059	0.65198	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.91	3.7	0.42460	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.90082	3.085	0.80722	D	1	P	0.51449	0.945	P	0.58331	0.837	T	0.69873	-0.5027	10	0.59425	D	0.04	.	12.8672	0.57946	0.0:0.7925:0.0:0.2075	.	438	Q12996	CSTF3_HUMAN	N	438;371	ENSP00000315791:K438N	ENSP00000315791:K438N	K	-	3	2	CSTF3	33074489	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.501000	0.35693	1.478000	0.48253	-0.467000	0.05162	AAA		0.328	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		74	302	0	0	0	1	0	74	302				
TPX2	22974	broad.mit.edu	37	20	30371596	30371596	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30371596G>A	ENST00000300403.6	+	12	1813	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TPX2_ENST00000340513.4_Missense_Mutation_p.E465K	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	429					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACCACCCACCGAGCCTATTGG	0.428																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1393-1395)Gag>Aag		TPX2, microtubule-associated							90.0	95.0	93.0					20																	30371596		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30371596G>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1285G>A	20.37:g.30371596G>A	ENSP00000300403:p.Glu429Lys					TPX2_ENST00000300403.6_Missense_Mutation_p.E429K	p.E465K			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		13	1921	+			429					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1393G>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385248	0.25031	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.29142	1.58	5.7	4.75	0.60458	.	0.298342	0.34067	N	0.004294	T	0.07369	0.0186	N	0.00392	-1.555	0.23972	N	0.996307	B;B	0.16802	0.019;0.002	B;B	0.09377	0.004;0.001	T	0.29701	-1.0003	10	0.02654	T	1	-9.9915	10.8839	0.46955	0.1439:0.7129:0.1432:0.0	.	465;429	Q96RR5;Q9ULW0	.;TPX2_HUMAN	K	429;465	ENSP00000341145:E465K	ENSP00000300403:E429K	E	+	1	0	TPX2	29835257	0.371000	0.25056	1.000000	0.80357	0.922000	0.55478	0.827000	0.27421	1.406000	0.46857	-0.153000	0.13522	GAG		0.428	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			108	404	0	0	0	1	0	108	404				
FGF12	2257	broad.mit.edu	37	3	191888348	191888348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:191888348C>T	ENST00000454309.2	-	4	1337	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	FGF12_ENST00000445105.2_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q|FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	171					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AAACCAAGCTCGGCCTGATTC	0.413																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(511-513)cGa>cAa		fibroblast growth factor 12							212.0	216.0	214.0					3																	191888348		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:191888348C>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.512G>A	3.37:g.191888348C>T	ENSP00000413496:p.Arg171Gln					FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q|FGF12_ENST00000445105.1_Missense_Mutation_p.R109Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q	p.R171Q	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	4	1337	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	171					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.512G>A	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276014	0.95459	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.84773	2.715	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92922	0.6356	10	0.87932	D	0	.	14.6881	0.69065	0.0:0.9307:0.0:0.0693	.	109;171	P61328-2;P61328	.;FGF12_HUMAN	Q	109;109;109;171;66;109;72;85	ENSP00000264730:R109Q;ENSP00000393686:R109Q;ENSP00000413496:R171Q;ENSP00000400948:R66Q;ENSP00000397635:R109Q;ENSP00000410125:R72Q;ENSP00000412904:R85Q	ENSP00000264730:R109Q	R	-	2	0	FGF12	193371042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	1.578000	0.49821	0.655000	0.94253	CGA		0.413	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		238	912	0	0	0	1	0	238	912				
ZNF614	80110	broad.mit.edu	37	19	52519953	52519953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52519953G>A	ENST00000270649.6	-	5	1442	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTAGATAGCGCTTCATTGTA	0.408																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(898-900)Cgc>Tgc		zinc finger protein 614							120.0	107.0	112.0					19																	52519953		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519953G>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.898C>T	19.37:g.52519953G>A	ENSP00000270649:p.Arg300Cys					ZNF614_ENST00000356322.6_Intron	p.R300C	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1442	-		all_neural(266;0.0505)	300					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.898C>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920886	0.17982	.	.	ENSG00000142556	ENST00000270649	T	0.15487	2.42	3.85	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	L	0.39514	1.22	0.09310	N	1	D	0.62365	0.991	P	0.48654	0.585	T	0.18745	-1.0327	9	0.59425	D	0.04	.	0.7601	0.01005	0.284:0.2795:0.2808:0.1557	.	300	Q8N883	ZN614_HUMAN	C	300	ENSP00000270649:R300C	ENSP00000270649:R300C	R	-	1	0	ZNF614	57211765	0.000000	0.05858	0.074000	0.20217	0.993000	0.82548	-0.955000	0.03869	0.290000	0.22444	0.655000	0.94253	CGC		0.408	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		95	495	0	0	0	1	0	95	495				
ZNF548	147694	broad.mit.edu	37	19	57910188	57910188	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910188G>T	ENST00000366197.5	+	3	783	c.533G>T	c.(532-534)tGg>tTg	p.W178L	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.W190L|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAAGCGAGTGGAAGCCATAC	0.502																																						ENST00000366197.5																			0				breast(1)	1						c.(532-534)tGg>tTg		zinc finger protein 548							63.0	65.0	64.0					19																	57910188		2049	4211	6260	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910188G>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.533G>T	19.37:g.57910188G>T	ENSP00000379482:p.Trp178Leu					AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.W190L|AC004076.7_ENST00000597410.1_Intron	p.W178L	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	783	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	178					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.533G>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	7.967	0.748220	0.15710	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.04809	3.55;3.58	2.38	1.27	0.21489	.	.	.	.	.	T	0.03695	0.0105	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39742	-0.9599	9	0.72032	D	0.01	.	6.1038	0.20061	0.0:0.0:0.6972:0.3028	.	190;178	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	L	190;178	ENSP00000337555:W190L;ENSP00000379482:W178L	ENSP00000337555:W190L	W	+	2	0	ZNF548	62602000	.	.	0.104000	0.21259	0.471000	0.32888	.	.	0.551000	0.29008	0.591000	0.81541	TGG		0.502	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		30	274	1	0	8.58068e-18	1	9.49213e-18	30	274				
CCND2	894	broad.mit.edu	37	12	4385201	4385201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385201G>A	ENST00000261254.3	+	2	495	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	76	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CGAAGAAGAGGTCTTCCCTCT	0.547			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"""NHL,CLL"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(226-228)Gtc>Atc		cyclin D2							73.0	74.0	74.0					12																	4385201		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4385201G>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.226G>A	12.37:g.4385201G>A	ENSP00000261254:p.Val76Ile					RP11-264F23.3_ENST00000539135.1_RNA	p.V76I	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		2	495	+			76			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.226G>A	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432156	0.83776	.	.	ENSG00000118971	ENST00000261254	T	0.18810	2.19	5.15	5.15	0.70609	Cyclin, N-terminal (2);Cyclin-like (3);	0.182655	0.47852	D	0.000210	T	0.40791	0.1131	M	0.88906	2.99	0.80722	D	1	P	0.38767	0.646	B	0.43274	0.414	T	0.49570	-0.8926	10	0.56958	D	0.05	.	17.6686	0.88210	0.0:0.0:1.0:0.0	.	76	P30279	CCND2_HUMAN	I	76	ENSP00000261254:V76I	ENSP00000261254:V76I	V	+	1	0	CCND2	4255462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.768000	0.98965	2.423000	0.82170	0.555000	0.69702	GTC		0.547	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		62	279	0	0	0	1	0	62	279				
ZNF91	7644	broad.mit.edu	37	19	23545395	23545395	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545395A>G	ENST00000300619.7	-	4	591	c.386T>C	c.(385-387)gTg>gCg	p.V129A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	129					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTCATCCACACTTTTACA	0.348																																						ENST00000300619.7																			0											c.(385-387)gTg>gCg		zinc finger protein 91							75.0	80.0	78.0					19																	23545395		2154	4280	6434	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545395A>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.386T>C	19.37:g.23545395A>G	ENSP00000300619:p.Val129Ala					ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A|ZNF91_ENST00000599743.1_Intron	p.V129A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	591	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	129					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.386T>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.140824	0.01728	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.44;3.36	0.987	0.987	0.19790	.	.	.	.	.	T	0.16257	0.0391	M	0.87269	2.87	0.09310	N	1	B;D	0.69078	0.178;0.997	B;D	0.63283	0.108;0.913	T	0.29882	-0.9997	9	0.05525	T	0.97	.	4.0615	0.09841	1.0:0.0:0.0:0.0	.	97;129	Q05481-2;Q05481	.;ZNF91_HUMAN	A	129;97	ENSP00000300619:V129A;ENSP00000380272:V97A	ENSP00000300619:V129A	V	-	2	0	ZNF91	23337235	0.001000	0.12720	0.017000	0.16124	0.336000	0.28762	1.320000	0.33666	0.368000	0.24481	0.147000	0.16070	GTG		0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		69	386	0	0	0	1	0	69	386				
PCDHGA2	56113	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	331	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.A331V(2)	large_intestine(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(991-993)gCg>gTg									149.0	153.0	152.0					5																	140719530		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719530C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.992C>T	5.37:g.140719530C>T	ENSP00000378077:p.Ala331Val					PCDHGA1_ENST00000517417.1_Intron	p.A331V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	992	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.992C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.536	0.659606	0.14645	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.595751	0.13836	U	0.359348	T	0.03220	0.0094	L	0.61218	1.895	0.09310	N	1	B;B	0.30326	0.107;0.276	B;B	0.34931	0.104;0.192	T	0.32587	-0.9901	10	0.62326	D	0.03	.	8.5125	0.33226	0.0:0.7322:0.1269:0.1409	.	331;331	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	331	ENSP00000378077:A331V	ENSP00000378077:A331V	A	+	2	0	PCDHGA2	140699714	0.000000	0.05858	0.189000	0.23252	0.058000	0.15608	-0.155000	0.10115	0.319000	0.23209	-0.878000	0.02970	GCG		0.433	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		41	926	0	0	0	1	0	41	926				
AP2B1	163	broad.mit.edu	37	17	34001297	34001297	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34001297C>T	ENST00000262325.7	+	16	2792	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000592545.1_Silent_p.L723L|AP2B1_ENST00000537622.2_Silent_p.L761L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000312678.8_Silent_p.L761L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	747					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAATAAAGCTCTGCAGCACAT	0.433																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2239-2241)Ctg>Ttg		adaptor-related protein complex 2, beta 1 subunit							125.0	119.0	121.0					17																	34001297		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34001297C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2239C>T	17.37:g.34001297C>T						AP2B1_ENST00000537622.2_Silent_p.L761L|AP2B1_ENST00000592545.1_Silent_p.L723L|AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000312678.8_Silent_p.L761L|AP2B1_ENST00000545922.2_3'UTR	p.L747L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	16	2792	+		Ovarian(249;0.17)	747					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.2239C>T	CCDS32622.1																																																																																				0.433	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			9	633	0	0	0	1	0	9	633				
DUSP27	92235	broad.mit.edu	37	1	167096291	167096291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167096291G>A	ENST00000361200.2	+	6	2089	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	DUSP27_ENST00000271385.5_Silent_p.Q641Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.Q641Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	641					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGAGCCAGTCTATGGCAA	0.637																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1921-1923)caG>caA		dual specificity phosphatase 27 (putative)							41.0	37.0	38.0					1																	167096291		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096291G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1923G>A	1.37:g.167096291G>A						DUSP27_ENST00000271385.5_Silent_p.Q641Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.Q641Q	p.Q641Q			Q5VZP5	DUS27_HUMAN			6	2089	+			641					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1923G>A	CCDS30932.1																																																																																				0.637	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		28	155	0	0	0	1	0	28	155				
SYCP2L	221711	broad.mit.edu	37	6	10927525	10927525	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10927525C>T	ENST00000283141.6	+	17	1661	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	455						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGAAGATGACCGCTGCCTAA	0.413																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1363-1365)gaC>gaT		synaptonemal complex protein 2-like							132.0	128.0	129.0					6																	10927525		1967	4165	6132	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10927525C>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1365C>T	6.37:g.10927525C>T						SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.D455D	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		17	1661	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	455					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.1365C>T	CCDS43423.1																																																																																				0.413	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		16	327	0	0	0	1	0	16	327				
C8orf31	286122	broad.mit.edu	37	8	144124636	144124636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144124636G>T	ENST00000395172.1	+	3	495	c.143G>T	c.(142-144)aGg>aTg	p.R48M	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	48										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCATTGCAGAGGTCTCCCTTG	0.622																																						ENST00000395172.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(142-144)aGg>aTg		chromosome 8 open reading frame 31							39.0	42.0	41.0					8																	144124636		2203	4300	6503	SO:0001583	missense	286122							g.chr8:144124636G>T		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.143G>T	8.37:g.144124636G>T	ENSP00000378601:p.Arg48Met					C8orf31_ENST00000517653.1_3'UTR	p.R48M	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN			3	495	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		48					Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	c.143G>T	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	g	9.886	1.202848	0.22121	.	.	ENSG00000177335	ENST00000395172	T	0.56776	0.44	2.38	-0.493	0.12038	.	.	.	.	.	T	0.45716	0.1356	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.34825	-0.9813	9	0.87932	D	0	.	5.1229	0.14869	0.457:0.0:0.543:0.0	.	48	Q8N9H6	CH031_HUMAN	M	48	ENSP00000378601:R48M	ENSP00000378601:R48M	R	+	2	0	C8orf31	144196011	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-1.977000	0.01495	-0.126000	0.11682	0.435000	0.28638	AGG		0.622	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		9	171	1	0	1.12685e-05	1	1.15515e-05	9	171				
ICAM1	3383	broad.mit.edu	37	19	10394718	10394718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10394718C>T	ENST00000264832.3	+	4	972	c.647C>T	c.(646-648)gCg>gTg	p.A216V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Intron|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	216					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GTCCTGCCAGCGACTCCCCCA	0.627																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(646-648)gCg>gTg		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						83.0	86.0	85.0					19																	10394718		2202	4298	6500	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394718C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.647C>T	19.37:g.10394718C>T	ENSP00000264832:p.Ala216Val					CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	p.A216V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	972	+			216					B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.647C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	7.370	0.626659	0.14257	.	.	ENSG00000090339	ENST00000264832	T	0.03386	3.95	4.18	-8.36	0.00980	Immunoglobulin-like fold (1);	13.567900	0.00633	N	0.000497	T	0.01421	0.0046	N	0.01705	-0.755	0.09310	N	0.999998	B	0.13594	0.008	B	0.06405	0.002	T	0.43750	-0.9372	10	0.27082	T	0.32	-0.6359	5.1923	0.15216	0.5147:0.1608:0.0:0.3245	.	216	P05362	ICAM1_HUMAN	V	216	ENSP00000264832:A216V	ENSP00000264832:A216V	A	+	2	0	ICAM1	10255718	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.777000	0.00775	-2.479000	0.00524	0.511000	0.50034	GCG		0.627	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			9	576	0	0	0	1	0	9	576				
BLOC1S1	2647	broad.mit.edu	37	12	56113380	56113380	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56113380C>A	ENST00000548925.1	+	4	464	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	BLOC1S1_ENST00000549147.1_3'UTR|RDH5_ENST00000548082.1_5'Flank|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.S122Y|RP11-644F5.10_ENST00000549424.1_Intron|RP11-644F5.10_ENST00000550412.1_Intron|RDH5_ENST00000257895.5_5'Flank|BLOC1S1_ENST00000547076.1_Missense_Mutation_p.S72Y|RDH5_ENST00000547072.1_5'Flank|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.S72Y			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	150					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CAGCTGCAGTCTGCCCCTTCC	0.577																																					Colon(112;1254 2715 13015)	ENST00000547076.1																			0				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						c.(214-216)tCt>tAt		biogenesis of lysosomal organelles complex-1, subunit 1							57.0	51.0	53.0					12																	56113380		2203	4300	6503	SO:0001583	missense	2647				cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding	g.chr12:56113380C>A	S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"""Biogenesis of lysosomal organelles complex-1 subunits"""	4200	protein-coding gene	gene with protein product	"""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"""	601444	"""GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"""	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.449C>A	12.37:g.56113380C>A	ENSP00000447537:p.Ser150Tyr					BLOC1S1_ENST00000257899.2_Missense_Mutation_p.S122Y|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.S150Y|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000549147.1_3'UTR|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.S72Y|RP11-644F5.10_ENST00000549424.1_Intron	p.S72Y			P78537	BL1S1_HUMAN			4	730	+			150					A1L4Q9|Q6NZ45	Missense_Mutation	SNP	ENST00000548925.1	37	c.215C>A	CCDS8889.2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431200	0.62844	.	.	ENSG00000135441	ENST00000257899;ENST00000548925;ENST00000547076;ENST00000548556	.	.	.	5.37	5.37	0.77165	.	0.180436	0.49916	D	0.000134	T	0.61438	0.2347	L	0.40543	1.245	0.43054	D	0.994668	D	0.55385	0.971	P	0.52109	0.69	T	0.64462	-0.6402	9	0.62326	D	0.03	-2.7568	16.9981	0.86373	0.0:1.0:0.0:0.0	.	150	P78537	BL1S1_HUMAN	Y	122;150;72;72	.	ENSP00000257899:S122Y	S	+	2	0	BLOC1S1	54399647	1.000000	0.71417	0.990000	0.47175	0.083000	0.17756	7.190000	0.77755	2.683000	0.91414	0.655000	0.94253	TCT		0.577	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406681.1	NM_001487		48	186	1	0	9.58827e-17	1	1.05493e-16	48	186				
MDGA1	266727	broad.mit.edu	37	6	37605152	37605152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37605152G>A	ENST00000434837.3	-	17	4038	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	954					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CATCATCTCTGCAACGCCAAG	0.637																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(2860-2862)Cag>Tag		MAM domain containing glycosylphosphatidylinositol anchor 1							40.0	45.0	43.0					6																	37605152		2031	4172	6203	SO:0001587	stop_gained	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37605152G>A	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2860C>T	6.37:g.37605152G>A	ENSP00000402584:p.Gln954*					MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	p.Q954*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			17	4038	-			954					A6NHG0|Q8NBE3	Nonsense_Mutation	SNP	ENST00000434837.3	37	c.2860C>T	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	50	16.214899	0.99857	.	.	ENSG00000112139	ENST00000434837;ENST00000297153	.	.	.	4.77	3.88	0.44766	.	3.543960	0.00921	N	0.002591	.	.	.	.	.	.	0.24366	N	0.99486	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.8523	0.57864	0.0:0.1656:0.8344:0.0	.	.	.	.	X	954;958	.	ENSP00000297153:Q958X	Q	-	1	0	MDGA1	37713130	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.265000	0.58865	1.090000	0.41315	0.555000	0.69702	CAG		0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			15	326	0	0	0	1	0	15	326				
MYRIP	25924	broad.mit.edu	37	3	40275428	40275428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40275428G>T	ENST00000302541.6	+	12	2326	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	662	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTTGATAGCAGGATCTACAGG	0.512																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1984-1986)Gga>Tga		myosin VIIA and Rab interacting protein							81.0	78.0	79.0					3																	40275428		2203	4300	6503	SO:0001587	stop_gained	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40275428G>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1984G>T	3.37:g.40275428G>T	ENSP00000301972:p.Gly662*					MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*|MYRIP_ENST00000425621.1_Intron	p.G662*	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	12	2326	+			662			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Nonsense_Mutation	SNP	ENST00000302541.6	37	c.1984G>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	42	9.731632	0.99249	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	.	.	.	5.79	5.79	0.91817	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	X	662;662;573;475	.	.	G	+	1	0	MYRIP	40250432	1.000000	0.71417	0.870000	0.34147	0.944000	0.59088	6.649000	0.74364	2.733000	0.93635	0.655000	0.94253	GGA		0.512	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		32	284	1	0	2.81731e-10	1	2.98404e-10	32	284				
ZNF443	10224	broad.mit.edu	37	19	12542335	12542335	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12542335T>G	ENST00000301547.5	-	4	848	c.651A>C	c.(649-651)agA>agC	p.R217S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	217					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CAGTGTGCGTTCTTTCATGCA	0.398																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(649-651)agA>agC		zinc finger protein 443							125.0	125.0	125.0					19																	12542335		2203	4299	6502	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542335T>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.651A>C	19.37:g.12542335T>G	ENSP00000301547:p.Arg217Ser					CTD-3105H18.16_ENST00000595562.1_Intron	p.R217S	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	848	-			217						Missense_Mutation	SNP	ENST00000301547.5	37	c.651A>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510590	0.64522	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.24151	1.87	1.37	0.313	0.15842	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41488	0.1161	M	0.64676	1.99	0.21802	N	0.99954	D	0.89917	1.0	D	0.85130	0.997	T	0.16129	-1.0413	9	0.56958	D	0.05	.	5.5417	0.17041	0.0:0.1681:0.0:0.8319	.	217	Q9Y2A4	ZN443_HUMAN	S	217	ENSP00000301547:R217S	ENSP00000301547:R217S	R	-	3	2	ZNF443	12403335	0.000000	0.05858	0.016000	0.15963	0.662000	0.39071	-1.840000	0.01684	0.046000	0.15833	0.378000	0.23410	AGA		0.398	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		168	700	0	0	0	1	0	168	700				
PCDH12	51294	broad.mit.edu	37	5	141334893	141334893	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141334893G>T	ENST00000231484.3	-	1	3734	c.2524C>A	c.(2524-2526)Ctg>Atg	p.L842M	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	842					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTTGCAGCACCTCTCGG	0.652																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2524-2526)Ctg>Atg		protocadherin 12							79.0	75.0	77.0					5																	141334893		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334893G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2524C>A	5.37:g.141334893G>T	ENSP00000231484:p.Leu842Met						p.L842M	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3734	-		all_hematologic(541;0.0999)	842					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2524C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662690	0.47572	.	.	ENSG00000113555	ENST00000231484	T	0.55588	0.51	5.07	3.14	0.36123	.	0.316056	0.26065	N	0.026552	T	0.58694	0.2140	L	0.60455	1.87	0.29589	N	0.848538	D	0.67145	0.996	P	0.59703	0.862	T	0.55970	-0.8056	10	0.54805	T	0.06	.	6.1411	0.20261	0.2281:0.0:0.7719:0.0	.	842	Q9NPG4	PCD12_HUMAN	M	842	ENSP00000231484:L842M	ENSP00000231484:L842M	L	-	1	2	PCDH12	141315077	0.998000	0.40836	0.933000	0.37362	0.209000	0.24338	3.312000	0.51927	1.381000	0.46364	0.561000	0.74099	CTG		0.652	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		61	339	1	0	6.60958e-23	1	7.49606e-23	61	339				
SLC29A4	222962	broad.mit.edu	37	7	5340232	5340232	+	Silent	SNP	C	C	T	rs143356600	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5340232C>T	ENST00000396872.3	+	10	1550	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	463					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	ACGGCTACTTCGGCAGCGTGC	0.682																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(1387-1389)ttC>ttT		solute carrier family 29 (equilibrative nucleoside transporter), member 4		C	,	6,4400		0,6,2197	80.0	75.0	77.0		1389,1389	-3.6	1.0	7	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC29A4	NM_001040661.1,NM_153247.2	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	463/531,463/531	5340232	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5340232C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1389C>T	7.37:g.5340232C>T						SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000439491.2_3'UTR	p.F463F	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	10	1550	+		Ovarian(82;0.0175)	463					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.1389C>T	CCDS5340.1																																																																																				0.682	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		148	593	0	0	0	1	0	148	593				
PMS2CL	441194	broad.mit.edu	37	7	6786764	6786764	+	RNA	SNP	C	C	T	rs541032746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6786764C>T	ENST00000486256.1	+	0	2061					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		TCATGCTGAGCGACAGCCCTG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		13621	0.001		0.0	False		,,,				2504	0.0					ENST00000486256.1																			0																																																			0							g.chr7:6786764C>T	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6786764C>T								NR_002217.1						0	2061	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.542	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		57	101	0	0	0	1	0	57	101				
ANKS6	203286	broad.mit.edu	37	9	101536359	101536359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536359G>A	ENST00000353234.4	-	9	1668	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*|ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	541						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1621-1623)Cga>Tga		ankyrin repeat and sterile alpha motif domain containing 6							30.0	35.0	33.0					9																	101536359		1896	4122	6018	SO:0001587	stop_gained	203286							g.chr9:101536359G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1621C>T	9.37:g.101536359G>A	ENSP00000297837:p.Arg541*					ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*	p.R541*			Q68DC2	ANKS6_HUMAN			9	1668	-		Acute lymphoblastic leukemia(62;0.0527)	541					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Nonsense_Mutation	SNP	ENST00000353234.4	37	c.1621C>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.348455|5.348455	0.95807|0.95807	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	.|.	.|.	.|.	5.48|5.48	4.5|4.5	0.54988|0.54988	.|.	0.107337|.	0.64402|.	D|.	0.000008|.	.|T	.|0.61009	.|0.2313	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67658	.|-0.5614	.|3	0.02654|.	T|.	1|.	-11.1796|-11.1796	12.2897|12.2897	0.54810|0.54810	0.0:0.0:0.7562:0.2438|0.0:0.0:0.7562:0.2438	.|.	.|.	.|.	.|.	X|L	240;541;541;346|9	.|.	ENSP00000297837:R541X|.	R|S	-|-	1|2	2|0	ANKS6|ANKS6	100576180|100576180	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.954000|0.954000	0.61252|0.61252	4.849000|4.849000	0.62882|0.62882	2.580000|2.580000	0.87095|0.87095	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.557	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		30	177	0	0	0	1	0	30	177				
BRIP1	83990	broad.mit.edu	37	17	59760907	59760907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59760907G>A	ENST00000259008.2	-	20	3767	c.3500C>T	c.(3499-3501)gCt>gTt	p.A1167V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1167					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAGGTCTTTAGCTAAAATGCA	0.338			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(3499-3501)gCt>gTt	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							73.0	72.0	73.0					17																	59760907		2203	4298	6501	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59760907G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3500C>T	17.37:g.59760907G>A	ENSP00000259008:p.Ala1167Val						p.A1167V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			20	3767	-			1167					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3500C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	9.160	1.018504	0.19355	.	.	ENSG00000136492	ENST00000259008	T	0.78481	-1.18	5.69	4.72	0.59763	.	0.908560	0.09403	N	0.806853	T	0.64438	0.2598	N	0.17082	0.46	0.80722	D	1	B	0.18610	0.029	B	0.17722	0.019	T	0.50233	-0.8852	9	.	.	.	-2.3141	11.8611	0.52467	0.0815:0.0:0.9185:0.0	.	1167	Q9BX63	FANCJ_HUMAN	V	1167	ENSP00000259008:A1167V	.	A	-	2	0	BRIP1	57115689	0.051000	0.20477	0.861000	0.33841	0.098000	0.18820	0.409000	0.21082	1.400000	0.46741	0.563000	0.77884	GCT		0.338	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		43	191	0	0	0	1	0	43	191				
TSPYL5	85453	broad.mit.edu	37	8	98289747	98289747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98289747G>A	ENST00000322128.3	-	1	429	c.326C>T	c.(325-327)gCc>gTc	p.A109V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	109					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GAGAGATGCGGCCTTCCCCGG	0.741																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(325-327)gCc>gTc		TSPY-like 5							5.0	6.0	5.0					8																	98289747		1875	3684	5559	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289747G>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.326C>T	8.37:g.98289747G>A	ENSP00000322802:p.Ala109Val						p.A109V	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	429	-	Breast(36;2.56e-06)		109					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.326C>T	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732158	0.15507	.	.	ENSG00000180543	ENST00000322128	T	0.19105	2.17	4.05	2.25	0.28309	.	0.840683	0.09688	N	0.768828	T	0.18173	0.0436	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23940	-1.0174	10	0.56958	D	0.05	-2.2082	6.8549	0.24034	0.2072:0.0:0.7928:0.0	.	109	Q86VY4	TSYL5_HUMAN	V	109	ENSP00000322802:A109V	ENSP00000322802:A109V	A	-	2	0	TSPYL5	98358923	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.707000	0.25704	0.649000	0.30751	0.650000	0.86243	GCC		0.741	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		21	81	0	0	0	1	0	21	81				
CD1B	910	broad.mit.edu	37	1	158301164	158301164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158301164T>C	ENST00000368168.3	-	1	157	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	17					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATGTTCACTGTTACCACCAGG	0.478																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(49-51)aAc>aGc		CD1b molecule							85.0	76.0	79.0					1																	158301164		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158301164T>C	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.50A>G	1.37:g.158301164T>C	ENSP00000357150:p.Asn17Ser						p.N17S	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			1	157	-	all_hematologic(112;0.0378)		17					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.50A>G	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	T	5.734	0.319814	0.10845	.	.	ENSG00000158485	ENST00000368168	T	0.01252	5.1	3.14	1.98	0.26296	.	0.801389	0.10160	N	0.708393	T	0.00271	0.0008	N	0.02539	-0.55	0.09310	N	1	B;B	0.16802	0.019;0.002	B;B	0.24541	0.054;0.004	T	0.35525	-0.9785	10	0.24483	T	0.36	-7.4059	4.6335	0.12513	0.0:0.1632:0.0:0.8368	.	17;17	B4E0D2;P29016	.;CD1B_HUMAN	S	17	ENSP00000357150:N17S	ENSP00000357150:N17S	N	-	2	0	CD1B	156567788	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.552000	0.23376	0.569000	0.29329	0.528000	0.53228	AAC		0.478	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		61	144	0	0	0	1	0	61	144				
SBF1	6305	broad.mit.edu	37	22	50904432	50904432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50904432C>T	ENST00000390679.3	-	9	1153	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SBF1_ENST00000348911.6_Silent_p.L324L|SBF1_ENST00000380817.3_Silent_p.L323L			O95248	MTMR5_HUMAN	SET binding factor 1	323					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCTCTGGCAAGGGTGGAA	0.612																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(967-969)ttG>ttA		SET binding factor 1							121.0	125.0	123.0					22																	50904432		2165	4277	6442	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50904432C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.969G>A	22.37:g.50904432C>T						SBF1_ENST00000348911.6_Silent_p.L324L|SBF1_ENST00000390679.3_Silent_p.L323L	p.L323L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	9	1152	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	323					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.969G>A																																																																																					0.612	SBF1-201	KNOWN	basic	protein_coding	protein_coding				91	475	0	0	0	1	0	91	475				
EFEMP1	2202	broad.mit.edu	37	2	56094325	56094325	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094325T>C	ENST00000394555.2	-	11	1800	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L	EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000394554.1_Silent_p.L455L|EFEMP1_ENST00000424836.2_Silent_p.L317L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	455	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGGTCCTGATAATGACTTCA	0.403																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1363-1365)ttA>ttG		EGF containing fibulin-like extracellular matrix protein 1							108.0	90.0	96.0					2																	56094325		2203	4300	6503	SO:0001819	synonymous_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56094325T>C	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1365A>G	2.37:g.56094325T>C						EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000424836.2_Silent_p.L317L|EFEMP1_ENST00000394554.1_Silent_p.L455L	p.L455L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		11	1800	-			455			Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	c.1365A>G	CCDS1857.1																																																																																				0.403	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			93	275	0	0	0	1	0	93	275				
LCT	3938	broad.mit.edu	37	2	136569955	136569955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136569955C>T	ENST00000264162.2	-	7	2289	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	760	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCACTTTCCCCTATGGGCAT	0.443																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2278-2280)gGg>gAg		lactase							100.0	102.0	102.0					2																	136569955		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136569955C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2279G>A	2.37:g.136569955C>T	ENSP00000264162:p.Gly760Glu						p.G760E	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2289	-			760			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2279G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571513	0.03882	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.29655	1.56	5.36	1.61	0.23674	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.196938	0.43110	D	0.000601	T	0.11665	0.0284	N	0.12746	0.255	0.38293	D	0.942758	B	0.10296	0.003	B	0.18871	0.023	T	0.25502	-1.0130	10	0.02654	T	1	-13.6472	5.1686	0.15098	0.0:0.4355:0.2938:0.2706	.	760	P09848	LPH_HUMAN	E	760;192	ENSP00000264162:G760E	ENSP00000264162:G760E	G	-	2	0	LCT	136286425	0.931000	0.31567	0.996000	0.52242	0.975000	0.68041	1.299000	0.33424	0.591000	0.29711	0.655000	0.94253	GGG		0.443	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		64	645	0	0	0	1	0	64	645				
EGF	1950	broad.mit.edu	37	4	110897320	110897320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110897320C>T	ENST00000265171.5	+	13	2427	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	EGF_ENST00000509793.1_Missense_Mutation_p.A619V|EGF_ENST00000503392.1_Missense_Mutation_p.A661V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	661					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGGTGCGATGCCAAGCAGTCT	0.478																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1981-1983)gCc>gTc		epidermal growth factor	Sulindac(DB00605)						142.0	123.0	129.0					4																	110897320		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110897320C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1982C>T	4.37:g.110897320C>T	ENSP00000265171:p.Ala661Val					EGF_ENST00000509793.1_Missense_Mutation_p.A619V|EGF_ENST00000503392.1_Missense_Mutation_p.A661V	p.A661V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	13	2427	+		Hepatocellular(203;0.0893)	661					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1982C>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164830	0.78339	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96073	-3.9;-3.9;-3.9	5.77	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.505033	0.23461	N	0.047937	D	0.97133	0.9063	M	0.86864	2.845	0.35014	D	0.757176	P;B;P	0.49358	0.923;0.426;0.923	P;B;P	0.54174	0.744;0.36;0.676	D	0.99968	1.1898	10	0.87932	D	0	.	14.364	0.66792	0.0:0.9298:0.0:0.0702	.	661;619;661	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	V	619;661;661	ENSP00000424316:A619V;ENSP00000265171:A661V;ENSP00000421384:A661V	ENSP00000265171:A661V	A	+	2	0	EGF	111116769	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	2.021000	0.41020	1.440000	0.47531	0.655000	0.94253	GCC		0.478	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			70	263	0	0	0	1	0	70	263				
SLC20A1	6574	broad.mit.edu	37	2	113416788	113416788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416788G>A	ENST00000272542.3	+	8	1595	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	352					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAGGTGCAGTGCAGTTGCCTA	0.458																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1054-1056)gtG>gtA		solute carrier family 20 (phosphate transporter), member 1							108.0	107.0	108.0					2																	113416788		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416788G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1056G>A	2.37:g.113416788G>A						SLC20A1_ENST00000480984.1_3'UTR	p.V352V	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			8	1595	+			352					Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.1056G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234197	0.01505	.	.	ENSG00000144136	ENST00000433924	.	.	.	5.57	1.5	0.22942	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	T	0.45659	-0.9246	4	.	.	.	-12.5585	7.6007	0.28075	0.0769:0.0:0.5076:0.4154	.	.	.	.	T	136	.	.	A	+	1	0	SLC20A1	113133259	0.991000	0.36638	0.997000	0.53966	0.220000	0.24768	0.475000	0.22164	0.300000	0.22699	-0.182000	0.12963	GCA		0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		112	372	0	0	0	1	0	112	372				
SRSF11	9295	broad.mit.edu	37	1	70697883	70697883	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70697883C>A	ENST00000370950.3	+	4	419				SRSF11_ENST00000370949.1_Missense_Mutation_p.F30L|SRSF11_ENST00000484162.1_Intron|SRSF11_ENST00000436161.2_Intron|SRSF11_ENST00000405432.1_Intron|SRSF11_ENST00000370951.1_Intron			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GAGACATTTTCTGGGTGTTTT	0.338																																						ENST00000370949.1																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(88-90)ttC>ttA		serine/arginine-rich splicing factor 11																																				SO:0001627	intron_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70697883C>A	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.338-68C>A	1.37:g.70697883C>A						SRSF11_ENST00000436161.2_Intron|SRSF11_ENST00000484162.1_Intron|SRSF11_ENST00000370951.1_Intron|SRSF11_ENST00000370950.3_Intron|SRSF11_ENST00000405432.1_Intron	p.F30L			Q05519	SRS11_HUMAN			1	653	+			0			Poly-Gly.		Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	c.90C>A	CCDS647.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242323	0.39598	.	.	ENSG00000116754	ENST00000370949	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22730	-1.0208	7	0.38643	T	0.18	.	15.2773	0.73750	0.0:0.9311:0.0:0.0689	.	30	Q5T757	.	L	30	.	ENSP00000359987:F30L	F	+	3	2	SRSF11	70470471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.632000	0.46511	2.763000	0.94921	0.655000	0.94253	TTC		0.338	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		23	71	1	0	8.04996e-18	1	8.90737e-18	23	71				
TCHHL1	126637	broad.mit.edu	37	1	152060019	152060019	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152060019G>T	ENST00000368806.1	-	3	203	c.139C>A	c.(139-141)Ccc>Acc	p.P47T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	47							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGGACACAGGGCTGCATGAAA	0.373																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.e3-1		trichohyalin-like 1							37.0	36.0	36.0					1																	152060019		2202	4289	6491	SO:0001630	splice_region_variant	126637						calcium ion binding	g.chr1:152060019G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.139-1C>A	1.37:g.152060019G>T							p.P47_splice	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	203	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		47					B2RPK8|Q5VTJ9	Splice_Site	SNP	ENST00000368806.1	37	c.138_splice	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.249639	0.39797	.	.	ENSG00000182898	ENST00000368806	T	0.13196	2.61	4.87	4.87	0.63330	EF-hand-like domain (1);	0.000000	0.38897	N	0.001526	T	0.25306	0.0615	M	0.68317	2.08	0.36272	D	0.855259	D	0.89917	1.0	D	0.97110	1.0	T	0.01133	-1.1441	10	0.52906	T	0.07	-12.1731	13.3662	0.60684	0.0:0.0:1.0:0.0	.	47	Q5QJ38	TCHL1_HUMAN	T	47	ENSP00000357796:P47T	ENSP00000357796:P47T	P	-	1	0	TCHHL1	150326643	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	2.939000	0.48995	2.521000	0.84997	0.453000	0.30009	CCC		0.373	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	Missense_Mutation	38	203	1	0	9.8876e-21	1	1.10988e-20	38	203				
ASPM	259266	broad.mit.edu	37	1	197112583	197112583	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197112583A>C	ENST00000367409.4	-	3	1055	c.799T>G	c.(799-801)Tca>Gca	p.S267A	ASPM_ENST00000294732.7_Missense_Mutation_p.S267A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	267					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAACTTTTGAAACGTTGGCA	0.378																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(799-801)Tca>Gca		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							98.0	95.0	96.0					1																	197112583		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112583A>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.799T>G	1.37:g.197112583A>C	ENSP00000356379:p.Ser267Ala					ASPM_ENST00000294732.7_Missense_Mutation_p.S267A	p.S267A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1055	-			267					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.799T>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	3.538	-0.094337	0.07053	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.57595	0.39;1.65	5.21	1.28	0.21552	.	1.694550	0.03164	N	0.169747	T	0.39091	0.1065	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.14615	-1.0466	10	0.35671	T	0.21	.	4.1352	0.10167	0.4431:0.3714:0.0741:0.1115	.	267;267	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	A	267	ENSP00000356379:S267A;ENSP00000294732:S267A	ENSP00000294732:S267A	S	-	1	0	ASPM	195379206	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.229000	0.17833	0.024000	0.15214	0.514000	0.50259	TCA		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		16	595	0	0	0	1	0	16	595				
CEP85L	387119	broad.mit.edu	37	6	118803097	118803097	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118803097C>T	ENST00000368491.3	-	8	2212		c.e8-1		CEP85L_ENST00000368488.5_Splice_Site	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like							centrosome (GO:0005813)|cytoplasm (GO:0005737)											GAATCTGCAGCTAAGGAGAAA	0.313																																						ENST00000368491.3																			0											c.e8-1		centrosomal protein 85kDa-like							63.0	54.0	57.0					6																	118803097		1787	4059	5846	SO:0001630	splice_region_variant	387119					centrosome		g.chr6:118803097C>T	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1591-1G>A	6.37:g.118803097C>T						CEP85L_ENST00000368488.5_Splice_Site		NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			8	2212	-								A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Splice_Site	SNP	ENST00000368491.3	37		CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276356	0.80580	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8033	0.92027	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf204	118909790	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.010000	0.70753	2.599000	0.87857	0.561000	0.74099	.		0.313	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475	Intron	4	79	0	0	0	1	0	4	79				
ERCC5	2073	broad.mit.edu	37	13	103504492	103504492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103504492C>T	ENST00000355739.4	+	2	1536	c.113C>T	c.(112-114)gCa>gTa	p.A38V	ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	38	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTAAACCAAGCACTTAAAGGA	0.378			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(112-114)gCa>gTa	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							117.0	120.0	119.0					13																	103504492		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103504492C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.113C>T	13.37:g.103504492C>T	ENSP00000347978:p.Ala38Val					ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S	p.A38V	NM_000123.3	NP_000114.2					2	1536	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.113C>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456982	0.43634	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.64618	-0.11;-0.11	5.39	5.39	0.77823	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.39147	1.195	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.999	D;D;D	0.85130	0.928;0.95;0.997	T	0.71388	-0.4608	10	0.38643	T	0.18	-22.3169	19.1376	0.93435	0.0:1.0:0.0:0.0	.	38;38;463	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	463;38;38	ENSP00000347978:A38V;ENSP00000442117:A38V	ENSP00000347978:A38V	A	+	2	0	ERCC5	102302493	1.000000	0.71417	0.855000	0.33649	0.934000	0.57294	7.426000	0.80270	2.514000	0.84764	0.579000	0.79373	GCA		0.378	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			43	299	0	0	0	1	0	43	299				
FOLH1	2346	broad.mit.edu	37	11	49175791	49175791	+	Missense_Mutation	SNP	C	C	A	rs375836358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49175791C>A	ENST00000256999.2	-	16	2137	c.1877G>T	c.(1876-1878)aGt>aTt	p.S626I	FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I|FOLH1_ENST00000340334.7_Missense_Mutation_p.S611I|FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I|FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	626					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAATGATACACTGTATGTCTT	0.323																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1831-1833)aGt>aTt		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						144.0	130.0	135.0					11																	49175791		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175791C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1877G>T	11.37:g.49175791C>A	ENSP00000256999:p.Ser626Ile					FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I|FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I|FOLH1_ENST00000256999.2_Missense_Mutation_p.S626I|FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I	p.S611I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			17	2200	-			626					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1832G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864361	0.17250	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.62	-5.07	0.02938	Transferrin receptor-like, dimerisation domain (2);	0.959845	0.08638	N	0.916012	T	0.23492	0.0568	L	0.57536	1.79	0.09310	N	1	B;B;B;B;P	0.42078	0.074;0.092;0.004;0.059;0.77	B;B;B;B;B	0.37239	0.034;0.037;0.023;0.074;0.244	T	0.17107	-1.0380	10	0.62326	D	0.03	.	6.1645	0.20382	0.1324:0.3207:0.0:0.5469	.	611;611;626;626;41	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	I	626;626;611;318;611	ENSP00000256999:S626I;ENSP00000349129:S626I;ENSP00000344131:S611I;ENSP00000344086:S318I;ENSP00000431463:S611I	ENSP00000256999:S626I	S	-	2	0	FOLH1	49132367	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	-1.647000	0.01997	-1.037000	0.03283	0.404000	0.27445	AGT		0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		67	296	1	0	3.78398e-24	1	4.31794e-24	67	296				
SPG20	23111	broad.mit.edu	37	13	36905734	36905734	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36905734C>A	ENST00000451493.1	-	3	1028		c.e3-1		SPG20_ENST00000494062.2_Splice_Site|SPG20_ENST00000355182.4_Splice_Site|SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000495510.1_Splice_Site	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGTCACAAACCTGAAAGGATT	0.313																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.e3-1		spastic paraplegia 20 (Troyer syndrome)							45.0	45.0	45.0					13																	36905734		2203	4300	6503	SO:0001630	splice_region_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36905734C>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.811-1G>T	13.37:g.36905734C>A						SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000494062.2_Splice_Site|SPG20_ENST00000495510.1_Splice_Site|SPG20_ENST00000355182.4_Splice_Site		NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	1028	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						O60349|Q86Y67|Q9H1T2|Q9H1T3	Splice_Site	SNP	ENST00000451493.1	37		CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073779	0.55646	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.69	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5079	0.67764	0.0:0.9299:0.0:0.0701	.	.	.	.	.	-1	.	.	.	-	.	.	SPG20	35803734	1.000000	0.71417	0.977000	0.42913	0.703000	0.40648	7.084000	0.76866	1.421000	0.47157	0.561000	0.74099	.		0.313	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		Intron	50	188	1	0	5.73435e-26	1	6.59582e-26	50	188				
STOML3	161003	broad.mit.edu	37	13	39541021	39541021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39541021G>A	ENST00000379631.4	-	7	1161	c.817C>T	c.(817-819)Cta>Tta	p.L273L	STOML3_ENST00000423210.1_Silent_p.L264L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	273					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATGCCCTCTAGTATATTCATG	0.498																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(817-819)Cta>Tta		stomatin (EPB72)-like 3							98.0	95.0	96.0					13																	39541021		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane		g.chr13:39541021G>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.817C>T	13.37:g.39541021G>A						STOML3_ENST00000423210.1_Silent_p.L264L	p.L273L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	7	1161	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	273					B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	c.817C>T	CCDS9367.1																																																																																				0.498	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			68	350	0	0	0	1	0	68	350				
EPG5	57724	broad.mit.edu	37	18	43535278	43535278	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43535278C>A	ENST00000282041.5	-	2	124	c.90G>T	c.(88-90)caG>caT	p.Q30H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	30					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACTCTTCCCTCTGAGGAGTTT	0.378																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(88-90)caG>caT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							60.0	54.0	56.0					18																	43535278		1822	4086	5908	SO:0001583	missense	57724				autophagy			g.chr18:43535278C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.90G>T	18.37:g.43535278C>A	ENSP00000282041:p.Gln30His						p.Q30H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			2	124	-			30					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.90G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172568	0.21704	.	.	ENSG00000152223	ENST00000282041	T	0.11930	2.73	5.38	3.61	0.41365	.	1.442800	0.03916	N	0.282665	T	0.11623	0.0283	N	0.08118	0	0.09310	N	1	P;B	0.36315	0.547;0.32	B;B	0.40228	0.323;0.244	T	0.42050	-0.9474	10	0.66056	D	0.02	-0.4744	10.1199	0.42614	0.0:0.8473:0.0:0.1527	.	30;30	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	H	30	ENSP00000282041:Q30H	ENSP00000282041:Q30H	Q	-	3	2	EPG5	41789276	0.701000	0.27806	0.152000	0.22495	0.337000	0.28794	1.165000	0.31822	0.841000	0.35020	0.563000	0.77884	CAG		0.378	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	214	1	0	7.03913e-09	1	7.37812e-09	9	214				
CBLB	868	broad.mit.edu	37	3	105572504	105572504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:105572504C>T	ENST00000264122.4	-	3	494	c.173G>A	c.(172-174)aGa>aAa	p.R58K	CBLB_ENST00000545639.1_Missense_Mutation_p.R80K|CBLB_ENST00000394027.3_Missense_Mutation_p.R80K|CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000403724.1_Missense_Mutation_p.R58K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	58	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGGCACAGTCTTACCTAAAA	0.274			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(172-174)aGa>aAa		Cbl proto-oncogene B, E3 ubiquitin protein ligase							44.0	42.0	43.0					3																	105572504		2201	4297	6498	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105572504C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.173G>A	3.37:g.105572504C>T	ENSP00000264122:p.Arg58Lys					CBLB_ENST00000403724.1_Missense_Mutation_p.R58K|CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000545639.1_Missense_Mutation_p.R80K|CBLB_ENST00000394027.3_Missense_Mutation_p.R80K	p.R58K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			3	494	-			58			4H.|Cbl-PTB.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.173G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432187	0.43122	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.83	5.83	0.93111	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	N	0.04355	-0.22	0.80722	D	1	P;P;B	0.49696	0.927;0.911;0.044	D;D;B	0.67725	0.953;0.921;0.161	T	0.81371	-0.0963	10	0.87932	D	0	-20.2561	20.126	0.97982	0.0:1.0:0.0:0.0	.	80;58;58	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	K	58;80;58;58;80;80;58;58	ENSP00000264122:R58K;ENSP00000377595:R80K;ENSP00000384816:R58K;ENSP00000384938:R58K;ENSP00000446116:R80K;ENSP00000409750:R80K;ENSP00000400949:R58K;ENSP00000393906:R58K	ENSP00000264122:R58K	R	-	2	0	CBLB	107055194	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.272000	0.78516	2.749000	0.94314	0.655000	0.94253	AGA		0.274	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		44	168	0	0	0	1	0	44	168				
CLDN3	1365	broad.mit.edu	37	7	73183818	73183818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73183818C>T	ENST00000395145.2	-	1	782	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	188					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				TACTTCTTCTCGCGTGGGGGA	0.716																																						ENST00000395145.2																			0				kidney(1)|lung(1)	2						c.(562-564)Gag>Aag		claudin 3							26.0	25.0	25.0					7																	73183818		2199	4295	6494	SO:0001583	missense	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73183818C>T	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.562G>A	7.37:g.73183818C>T	ENSP00000378577:p.Glu188Lys						p.E188K	NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN			1	782	-		Lung NSC(55;0.159)	188						Missense_Mutation	SNP	ENST00000395145.2	37	c.562G>A	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076025	0.55646	.	.	ENSG00000165215	ENST00000395145	D	0.84660	-1.88	4.6	4.6	0.57074	.	0.481200	0.21587	N	0.072148	T	0.80259	0.4590	L	0.50333	1.59	0.47547	D	0.999459	B	0.12630	0.006	B	0.06405	0.002	T	0.74604	-0.3610	10	0.13470	T	0.59	.	14.9175	0.70810	0.0:1.0:0.0:0.0	.	188	O15551	CLD3_HUMAN	K	188	ENSP00000378577:E188K	ENSP00000378577:E188K	E	-	1	0	CLDN3	72821754	0.050000	0.20438	0.998000	0.56505	0.654000	0.38779	1.689000	0.37700	2.084000	0.62774	0.561000	0.74099	GAG		0.716	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		26	238	0	0	0	1	0	26	238				
EXTL3	2137	broad.mit.edu	37	8	28573951	28573951	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28573951G>T	ENST00000220562.4	+	3	1277	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	125					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGAACGCCAAGCAGGACCTGC	0.567																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(373-375)aaG>aaT		exostosin-like glycosyltransferase 3							46.0	40.0	42.0					8																	28573951		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573951G>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.375G>T	8.37:g.28573951G>T	ENSP00000220562:p.Lys125Asn					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.K125N	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1277	+		Ovarian(32;0.069)	125					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.375G>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699654	0.48307	.	.	ENSG00000012232	ENST00000220562	D	0.95482	-3.72	5.05	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	L	0.36672	1.1	0.54753	D	0.999988	D	0.54047	0.964	P	0.46940	0.532	D	0.91931	0.5555	9	.	.	.	-27.5715	14.3478	0.66678	0.0844:0.0:0.9156:0.0	.	125	O43909	EXTL3_HUMAN	N	125	ENSP00000220562:K125N	.	K	+	3	2	EXTL3	28629870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.567000	0.60850	2.352000	0.79861	0.491000	0.48974	AAG		0.567	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		29	159	1	0	4.87955e-14	1	5.28594e-14	29	159				
KCTD11	147040	broad.mit.edu	37	17	7256609	7256609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256609C>T	ENST00000333751.3	+	1	1402	c.348C>T	c.(346-348)tcC>tcT	p.S116S	TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	116					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGCTGAGCTCCGTCCAGGTGG	0.622																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(346-348)tcC>tcT		potassium channel tetramerization domain containing 11							78.0	65.0	70.0					17																	7256609		2203	4300	6503	SO:0001819	synonymous_variant	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256609C>T	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.348C>T	17.37:g.7256609C>T						RP11-542C16.1_ENST00000572417.1_RNA	p.S116S	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1402	+		Prostate(122;0.157)	116					B3KPE0	Silent	SNP	ENST00000333751.3	37	c.348C>T	CCDS32545.1																																																																																				0.622	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		17	501	0	0	0	1	0	17	501				
SLC45A1	50651	broad.mit.edu	37	1	8390791	8390791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390791G>A	ENST00000471889.1	+	5	1623	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H|SLC45A1_ENST00000481265.1_3'UTR|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	413					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCTACCGCCAGGACCGT	0.687																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1237-1239)cGc>cAc		solute carrier family 45, member 1							27.0	29.0	28.0					1																	8390791		2202	4299	6501	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390791G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1238G>A	1.37:g.8390791G>A	ENSP00000418096:p.Arg413His					SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H	p.R413H			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1623	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	413					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1238G>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	7.956	0.745892	0.15710	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.17691	2.27;2.26;2.27	4.45	1.4	0.22301	.	1.298210	0.04555	N	0.390578	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	10	0.41790	T	0.15	-13.1605	7.6663	0.28432	0.421:0.0:0.579:0.0	.	413	Q9Y2W3	S45A1_HUMAN	H	413;447;413	ENSP00000418096:R413H;ENSP00000366699:R447H;ENSP00000289877:R413H	ENSP00000289877:R413H	R	+	2	0	SLC45A1	8313378	0.001000	0.12720	0.945000	0.38365	0.434000	0.31775	0.196000	0.17176	-0.000000	0.14550	0.561000	0.74099	CGC		0.687	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			15	279	0	0	0	1	0	15	279				
BUB3	9184	broad.mit.edu	37	10	124919965	124919965	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124919965A>C	ENST00000368865.4	+	5	669	c.460A>C	c.(460-462)Aca>Cca	p.T154P	BUB3_ENST00000538238.1_Missense_Mutation_p.T74P|BUB3_ENST00000368858.5_Missense_Mutation_p.T154P|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GATTGTGGGAACAGCAGGCCG	0.488																																					GBM(161;1111 1985 17553 20049 26037)	ENST00000368865.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(460-462)Aca>Cca		BUB3 mitotic checkpoint protein							143.0	138.0	140.0					10																	124919965		2203	4300	6503	SO:0001583	missense	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124919965A>C	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.460A>C	10.37:g.124919965A>C	ENSP00000357858:p.Thr154Pro					BUB3_ENST00000538238.1_Missense_Mutation_p.T74P|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.T154P	p.T154P	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN			5	669	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	154					A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	c.460A>C	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.898435	0.91962	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.72394	-0.65;1.44;-0.65;-0.65	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101842	0.64402	D	0.000003	T	0.81866	0.4913	H	0.96142	3.775	0.80722	D	1	P;B	0.43024	0.798;0.412	B;B	0.42343	0.384;0.148	D	0.87596	0.2494	10	0.72032	D	0.01	0.0523	15.4116	0.74929	1.0:0.0:0.0:0.0	.	154;154	O43684;O43684-2	BUB3_HUMAN;.	P	154;74;154;154	ENSP00000357858:T154P;ENSP00000444354:T74P;ENSP00000357851:T154P;ENSP00000383941:T154P	ENSP00000357851:T154P	T	+	1	0	BUB3	124909955	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	9.307000	0.96226	2.085000	0.62840	0.533000	0.62120	ACA		0.488	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			130	604	0	0	0	1	0	130	604				
KIAA1549	57670	broad.mit.edu	37	7	138529203	138529203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529203C>T	ENST00000422774.1	-	18	5359	c.5311G>A	c.(5311-5313)Ggt>Agt	p.G1771S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1771S			Q9HCM3	K1549_HUMAN	KIAA1549	1771						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCAGCAAACCGGGGCCAAAA	0.592			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5311-5313)Ggt>Agt		KIAA1549							17.0	21.0	20.0					7																	138529203		2033	4171	6204	SO:0001583	missense	57670					integral to membrane		g.chr7:138529203C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5311G>A	7.37:g.138529203C>T	ENSP00000416040:p.Gly1771Ser					KIAA1549_ENST00000422774.1_Missense_Mutation_p.G1771S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S	p.G1771S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			18	5359	-			1771					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5311G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533405	0.45073	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21734	2.0;2.01;1.99	5.56	3.77	0.43336	.	0.502498	0.23180	N	0.051023	T	0.11922	0.0290	L	0.41710	1.295	0.36620	D	0.875696	P;B;P;B	0.51449	0.909;0.057;0.945;0.057	B;B;B;B	0.34489	0.09;0.007;0.184;0.007	T	0.14952	-1.0454	10	0.07175	T	0.84	.	10.9538	0.47345	0.0:0.8478:0.0:0.1522	.	1771;555;1771;555	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1771;1721;1771	ENSP00000406661:G1771S;ENSP00000242365:G1721S;ENSP00000416040:G1771S	ENSP00000242365:G1721S	G	-	1	0	KIAA1549	138179743	0.200000	0.23398	0.220000	0.23810	0.830000	0.47004	1.338000	0.33873	0.736000	0.32559	0.650000	0.86243	GGT		0.592	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			15	79	0	0	0	1	0	15	79				
GATAD2B	57459	broad.mit.edu	37	1	153800602	153800602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153800602G>A	ENST00000368655.4	-	2	465	c.222C>T	c.(220-222)ggC>ggT	p.G74G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	74					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCTTCATAGCCCTTGACAC	0.463																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(220-222)ggC>ggT		GATA zinc finger domain containing 2B							224.0	190.0	202.0					1																	153800602		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153800602G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.222C>T	1.37:g.153800602G>A							p.G74G	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	465	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		74					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.222C>T	CCDS1054.1																																																																																				0.463	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		153	725	0	0	0	1	0	153	725				
NES	10763	broad.mit.edu	37	1	156639369	156639369	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639369G>T	ENST00000368223.3	-	4	4743	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1537	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGACCCTGGCCATTAACAC	0.577																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(4609-4611)ggC>ggA		nestin							100.0	84.0	90.0					1																	156639369		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639369G>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4611C>A	1.37:g.156639369G>T							p.G1537G	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	4743	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1537			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.4611C>A	CCDS1151.1																																																																																				0.577	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		44	490	1	0	9.58827e-17	1	1.05493e-16	44	490				
SOX11	6664	broad.mit.edu	37	2	5832971	5832971	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832971G>T	ENST00000322002.3	+	1	173	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	40					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAGCGACCCAGACTGGTGCAA	0.632																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(118-120)Gac>Tac		SRY (sex determining region Y)-box 11							52.0	46.0	48.0					2																	5832971		2203	4300	6503	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5832971G>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.118G>T	2.37:g.5832971G>T	ENSP00000322568:p.Asp40Tyr						p.D40Y	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	173	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		40					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.118G>T	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.515638	0.85389	.	.	ENSG00000176887	ENST00000322002	D	0.93811	-3.29	3.11	3.11	0.35812	High mobility group, superfamily (1);	0.000000	0.56097	U	0.000023	D	0.95351	0.8491	M	0.68593	2.085	0.53688	D	0.999976	D	0.64830	0.994	D	0.66351	0.943	D	0.95090	0.8221	10	0.49607	T	0.09	.	14.1887	0.65623	0.0:0.0:1.0:0.0	.	40	P35716	SOX11_HUMAN	Y	40	ENSP00000322568:D40Y	ENSP00000322568:D40Y	D	+	1	0	SOX11	5750422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.351000	0.73022	1.445000	0.47624	0.466000	0.42574	GAC		0.632	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		8	164	1	0	0.00307968	1	0.00310409	8	164				
BSN	8927	broad.mit.edu	37	3	49690580	49690580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690580G>A	ENST00000296452.4	+	5	3705	c.3591G>A	c.(3589-3591)ctG>ctA	p.L1197L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1197					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)		AAGCTGAGCTGCTCCAGAGGC	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.(3589-3591)ctG>ctA		bassoon presynaptic cytomatrix protein							19.0	20.0	20.0					3																	49690580		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690580G>A	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.3591G>A	3.37:g.49690580G>A							p.L1197L	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)	5	3705	+			1197					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.3591G>A	CCDS2800.1																																																																																				0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		7	202	0	0	0	1	0	7	202				
POLD2	5425	broad.mit.edu	37	7	44154541	44154541	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44154541G>T	ENST00000406581.2	-	12	1902	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	POLD2_ENST00000452185.1_Missense_Mutation_p.P418H|POLD2_ENST00000223361.3_Missense_Mutation_p.P404H	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	418					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTGGTCCTCAGGACCTGCAAA	0.562																																						ENST00000406581.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1252-1254)cCt>cAt		polymerase (DNA directed), delta 2, accessory subunit							33.0	32.0	32.0					7																	44154541		2203	4298	6501	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154541G>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1253C>A	7.37:g.44154541G>T	ENSP00000386105:p.Pro418His					POLD2_ENST00000223361.3_Missense_Mutation_p.P404H|POLD2_ENST00000452185.1_Missense_Mutation_p.P418H	p.P418H	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			12	1902	-			418					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.1253C>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296893	0.60086	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.45276	0.91;0.9;0.91	5.8	4.93	0.64822	.	0.114840	0.64402	D	0.000011	T	0.51517	0.1679	M	0.66939	2.045	0.47819	D	0.999527	D;D	0.56287	0.958;0.975	P;P	0.55615	0.63;0.78	T	0.52786	-0.8529	10	0.46703	T	0.11	-12.3013	7.5049	0.27538	0.0784:0.0:0.6619:0.2596	.	418;404	P49005;F8W8R3	DPOD2_HUMAN;.	H	418;404;418	ENSP00000386105:P418H;ENSP00000223361:P404H;ENSP00000395231:P418H	ENSP00000223361:P404H	P	-	2	0	POLD2	44121066	0.813000	0.29090	0.988000	0.46212	0.950000	0.60333	2.801000	0.47908	1.478000	0.48253	0.655000	0.94253	CCT		0.562	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		10	81	1	0	9.70103e-10	1	1.02402e-09	10	81				
PDIA2	64714	broad.mit.edu	37	16	335387	335387	+	Missense_Mutation	SNP	C	C	T	rs201912828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:335387C>T	ENST00000219406.6	+	6	889	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	291					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCTGCGCACCGGGAGCTCCT	0.667													c|||	2	0.000399361	0.0008	0.0	5008	,	,		11520	0.0		0.001	False		,,,				2504	0.0					ENST00000219406.6																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(871-873)Cgg>Tgg		protein disulfide isomerase family A, member 2			TRP/ARG	2,3958		0,2,1978	30.0	33.0	32.0		871	-5.2	0.6	16	dbSNP_134	32	2,8310		0,2,4154	yes	missense	PDIA2	NM_006849.2	101	0,4,6132	TT,TC,CC		0.0241,0.0505,0.0326	probably-damaging	291/526	335387	4,12268	1980	4156	6136	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335387C>T	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.871C>T	16.37:g.335387C>T	ENSP00000219406:p.Arg291Trp					PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W	p.R291W	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN			6	889	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	291					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.871C>T	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.398440	0.25205	5.05E-4	2.41E-4	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.14893	2.47;2.47	3.87	-5.16	0.02857	Thioredoxin-like fold (1);	0.825023	0.10819	N	0.630708	T	0.25865	0.0630	L	0.47716	1.5	0.09310	N	1	D	0.61080	0.989	P	0.58970	0.849	T	0.30031	-0.9992	10	0.87932	D	0	.	12.8524	0.57864	0.1846:0.7175:0.0:0.0979	.	291	Q13087	PDIA2_HUMAN	W	291;260;288	ENSP00000219406:R291W;ENSP00000384410:R288W	ENSP00000219406:R291W	R	+	1	2	PDIA2	275388	0.012000	0.17670	0.622000	0.29159	0.059000	0.15707	0.974000	0.29436	-0.593000	0.05844	-0.509000	0.04479	CGG		0.667	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		54	169	0	0	0	1	0	54	169				
LOC647323	647323	broad.mit.edu	37	3	193711783	193711783	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193711783G>A	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						TTTTGCACCAGCTTTTTGTGG	0.428																																						ENST00000397645.2																			0																																																			0							g.chr3:193711783G>A																													3.37:g.193711783G>A						RP11-699L21.2_ENST00000426616.1_lincRNA		NR_033944.1						0	75	-									RNA	SNP	ENST00000397645.2	37																																																																																						0.428	RP11-699L21.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000342625.1			7	220	0	0	0	1	0	7	220				
SFRP2	6423	broad.mit.edu	37	4	154702681	154702681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154702681G>A	ENST00000274063.4	-	3	1094	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	270	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCACCGAGGTGATCACCAGCT	0.592																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(808-810)atC>atT		secreted frizzled-related protein 2							145.0	107.0	120.0					4																	154702681		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702681G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.810C>T	4.37:g.154702681G>A							p.I270I	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			3	1094	-	all_hematologic(180;0.093)	Renal(120;0.117)	270			NTR.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.810C>T	CCDS34082.1																																																																																				0.592	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			69	285	0	0	0	1	0	69	285				
SECISBP2L	9728	broad.mit.edu	37	15	49308835	49308835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49308835T>C	ENST00000559471.1	-	11	1746	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	495							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCAGCTAACATGTCCCCTAAA	0.343																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(1483-1485)Atg>Gtg		SECIS binding protein 2-like							176.0	156.0	163.0					15																	49308835		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49308835T>C	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1483A>G	15.37:g.49308835T>C	ENSP00000453854:p.Met495Val					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	p.M495V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			11	1746	-			495					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.1483A>G	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386745	0.82902	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.76186	-1.0	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.72118	2.19	0.54753	D	0.999981	D;D	0.61697	0.983;0.99	P;D	0.72982	0.708;0.979	D	0.84915	0.0850	10	0.44086	T	0.13	.	15.8819	0.79211	0.0:0.0:0.0:1.0	.	495;450	Q93073;Q93073-2	SBP2L_HUMAN;.	V	450;495	ENSP00000261847:M450V	ENSP00000261847:M450V	M	-	1	0	SECISBP2L	47096127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	2.222000	0.72286	0.528000	0.53228	ATG		0.343	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		59	272	0	0	0	1	0	59	272				
ANKRD11	29123	broad.mit.edu	37	16	89348197	89348197	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348197T>G	ENST00000301030.4	-	9	5213	c.4753A>C	c.(4753-4755)Agg>Cgg	p.R1585R	ANKRD11_ENST00000378330.2_Silent_p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1585	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GACAGCATCCTCTCGAAGCTG	0.597																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4753-4755)Agg>Cgg		ankyrin repeat domain 11							76.0	69.0	72.0					16																	89348197		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89348197T>G	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4753A>C	16.37:g.89348197T>G						ANKRD11_ENST00000378330.2_Silent_p.R1585R	p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5213	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1585			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.4753A>C	CCDS32513.1																																																																																				0.597	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		19	464	0	0	0	1	0	19	464				
GRK7	131890	broad.mit.edu	37	3	141497440	141497440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141497440C>T	ENST00000264952.2	+	1	451	c.314C>T	c.(313-315)gCg>gTg	p.A105V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	105	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAAGACAGCGCGCTGCAGGGG	0.672																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(313-315)gCg>gTg		G protein-coupled receptor kinase 7							23.0	25.0	24.0					3																	141497440		2199	4291	6490	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497440C>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.314C>T	3.37:g.141497440C>T	ENSP00000264952:p.Ala105Val						p.A105V	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	451	+			105			RGS.			Missense_Mutation	SNP	ENST00000264952.2	37	c.314C>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717074	0.15372	.	.	ENSG00000114124	ENST00000264952	T	0.02015	4.5	4.37	-3.86	0.04230	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	2.007550	0.02149	N	0.057872	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	P	0.42248	0.774	B	0.28784	0.094	T	0.44711	-0.9310	10	0.52906	T	0.07	2.9895	5.7512	0.18148	0.0:0.3545:0.2322:0.4132	.	105	Q8WTQ7	GRK7_HUMAN	V	105	ENSP00000264952:A105V	ENSP00000264952:A105V	A	+	2	0	GRK7	142980130	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.252000	0.08806	-0.921000	0.03794	-0.471000	0.05019	GCG		0.672	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		12	271	0	0	0	1	0	12	271				
FLNC	2318	broad.mit.edu	37	7	128496602	128496602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496602T>C	ENST00000325888.8	+	44	7543	c.7282T>C	c.(7282-7284)Tcc>Ccc	p.S2428P	FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2428	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAGCCAGCGTCCTTTGCCGT	0.652																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7282-7284)Tcc>Ccc		filamin C, gamma							64.0	75.0	71.0					7																	128496602		2110	4203	6313	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496602T>C	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7282T>C	7.37:g.128496602T>C	ENSP00000327145:p.Ser2428Pro					FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P|RP11-309L24.2_ENST00000469965.1_RNA	p.S2428P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			44	7543	+			2428			Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7282T>C	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361949	0.61403	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85088	-1.94;-1.94	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.89095	3.005	0.58432	D	0.999995	D;P	0.76494	0.999;0.908	D;P	0.87578	0.998;0.791	D	0.93234	0.6620	10	0.41790	T	0.15	.	14.8887	0.70590	0.0:0.0:0.0:1.0	.	2395;2428	Q14315-2;Q14315	.;FLNC_HUMAN	P	2428;2395	ENSP00000327145:S2428P;ENSP00000344002:S2395P	ENSP00000327145:S2428P	S	+	1	0	FLNC	128283838	1.000000	0.71417	0.950000	0.38849	0.308000	0.27856	7.970000	0.88000	1.969000	0.57287	0.455000	0.32223	TCC		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			61	447	0	0	0	1	0	61	447				
PDE10A	10846	broad.mit.edu	37	6	165792768	165792768	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165792768C>A	ENST00000366882.1	-	19	2024	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	624					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AAAGCAAGGTCTGTGGCAATG	0.403																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1870-1872)Gac>Tac		phosphodiesterase 10A	Dipyridamole(DB00975)						146.0	137.0	140.0					6																	165792768		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165792768C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1870G>T	6.37:g.165792768C>A	ENSP00000355847:p.Asp624Tyr					PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y	p.D624Y			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	19	2024	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	624					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1870G>T		.	.	.	.	.	.	.	.	.	.	C	29.3	4.991485	0.93106	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.90844	-2.74;-2.74	5.95	5.95	0.96441	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.93854	3.465	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96914	0.9669	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	634;624	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Y	624;652;634;624;623	ENSP00000355847:D624Y;ENSP00000346435:D624Y	ENSP00000341187:D634Y	D	-	1	0	PDE10A	165712758	1.000000	0.71417	0.020000	0.16555	0.990000	0.78478	7.207000	0.77899	2.824000	0.97209	0.655000	0.94253	GAC		0.403	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			111	471	1	0	2.32112e-61	1	2.92237e-61	111	471				
ZNF880	400713	broad.mit.edu	37	19	52887625	52887625	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52887625A>G	ENST00000422689.2	+	4	807	c.792A>G	c.(790-792)ggA>ggG	p.G264G		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	264					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TACATACTGGAGAGAAACCTT	0.398																																						ENST00000422689.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(790-792)ggA>ggG		zinc finger protein 880							44.0	42.0	43.0					19																	52887625		1568	3582	5150	SO:0001819	synonymous_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887625A>G	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.792A>G	19.37:g.52887625A>G							p.G264G	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN			4	807	+			264					B4DNA6	Silent	SNP	ENST00000422689.2	37	c.792A>G	CCDS46164.1																																																																																				0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		37	131	0	0	0	1	0	37	131				
WDR48	57599	broad.mit.edu	37	3	39126162	39126162	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39126162T>G	ENST00000302313.5	+	13	1336	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R|WDR48_ENST00000544962.1_Missense_Mutation_p.S161R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	436					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGATGAAAGTGATTGTTTTG	0.358																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1306-1308)agT>agG		WD repeat domain 48							92.0	91.0	91.0					3																	39126162		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39126162T>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1308T>G	3.37:g.39126162T>G	ENSP00000307491:p.Ser436Arg					WDR48_ENST00000544962.1_Missense_Mutation_p.S161R|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R	p.S436R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	13	1336	+			436					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.1308T>G	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731475	0.69189	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.89343	1.07;-2.5;0.79	5.61	0.0116	0.14088	.	0.040621	0.85682	D	0.000000	D	0.86920	0.6049	L	0.44542	1.39	0.80722	D	1	B;B;D;P	0.54964	0.062;0.205;0.969;0.946	B;B;P;P	0.55455	0.052;0.193;0.668;0.776	T	0.81437	-0.0933	10	0.16420	T	0.52	-12.911	10.3654	0.44021	0.0:0.3182:0.0:0.6818	.	161;354;427;436	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	R	436;161;354	ENSP00000307491:S436R;ENSP00000445187:S161R;ENSP00000379557:S354R	ENSP00000307491:S436R	S	+	3	2	WDR48	39101166	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.315000	0.19451	0.126000	0.18424	0.533000	0.62120	AGT		0.358	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		65	255	0	0	0	1	0	65	255				
SLC39A13	91252	broad.mit.edu	37	11	47434981	47434981	+	Missense_Mutation	SNP	G	G	A	rs574886559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47434981G>A	ENST00000362021.4	+	5	610	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SLC39A13_ENST00000533076.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000524928.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	190	Poly-Ala.				cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGCTGCTGCCGCCGCGCTCAA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15264	0.0		0.0	False		,,,				2504	0.001					ENST00000524928.1																			0				breast(1)|kidney(1)|lung(1)|prostate(1)	4						c.(568-570)Gcc>Acc		solute carrier family 39 (zinc transporter), member 13							31.0	33.0	32.0					11																	47434981		2201	4298	6499	SO:0001583	missense	91252				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr11:47434981G>A		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.568G>A	11.37:g.47434981G>A	ENSP00000354689:p.Ala190Thr					SLC39A13_ENST00000533076.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000529740.1_3'UTR	p.A190T			Q96H72	S39AD_HUMAN		Lung(87;0.0936)	4	578	+			190			Poly-Ala.		D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	c.568G>A	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	G	4.021	0.001430	0.07819	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.93	1.96	0.26148	.	2.703060	0.00757	N	0.001107	T	0.29524	0.0736	N	0.25332	0.735	0.09310	N	1	B;B;P	0.34724	0.012;0.012;0.465	B;B;B	0.25405	0.02;0.002;0.06	T	0.12553	-1.0543	10	0.14252	T	0.57	-17.1502	3.3102	0.07014	0.0975:0.1991:0.5393:0.164	.	190;190;190	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	T	190	ENSP00000434290:A190T;ENSP00000354689:A190T;ENSP00000346956:A190T;ENSP00000432499:A190T;ENSP00000437186:A190T	ENSP00000346956:A190T	A	+	1	0	SLC39A13	47391557	0.042000	0.20092	0.004000	0.12327	0.034000	0.12701	1.262000	0.32992	0.121000	0.18284	0.455000	0.32223	GCC		0.672	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		60	276	0	0	0	1	0	60	276				
INSR	3643	broad.mit.edu	37	19	7172365	7172365	+	Missense_Mutation	SNP	C	C	T	rs144929085		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7172365C>T	ENST00000302850.5	-	5	1346	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	INSR_ENST00000341500.5_Missense_Mutation_p.A402T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	402					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GACACCAGAGCGTAGGATCGG	0.483																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(1204-1206)Gct>Act		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						143.0	127.0	132.0					19																	7172365		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7172365C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1204G>A	19.37:g.7172365C>T	ENSP00000303830:p.Ala402Thr					INSR_ENST00000302850.5_Missense_Mutation_p.A402T	p.A402T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			5	1243	-			402					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.1204G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550778	0.86127	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82984	-1.67;-1.67	4.94	4.94	0.65067	EGF receptor, L domain (1);	0.000000	0.45867	D	0.000338	T	0.81588	0.4854	L	0.60957	1.885	0.80722	D	1	D;D;D	0.57899	0.981;0.972;0.961	B;B;B	0.43889	0.381;0.4;0.435	T	0.83015	-0.0170	10	0.44086	T	0.13	.	15.6761	0.77326	0.0:1.0:0.0:0.0	.	393;402;402	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	T	402	ENSP00000303830:A402T;ENSP00000342838:A402T	ENSP00000303830:A402T	A	-	1	0	INSR	7123365	1.000000	0.71417	0.792000	0.32020	0.763000	0.43281	7.459000	0.80802	2.294000	0.77228	0.561000	0.74099	GCT		0.483	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			112	438	0	0	0	1	0	112	438				
MDH1B	130752	broad.mit.edu	37	2	207620181	207620181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207620181G>A	ENST00000374412.3	-	5	737	c.462C>T	c.(460-462)ggC>ggT	p.G154G	MDH1B_ENST00000449792.1_Silent_p.G56G|MDH1B_ENST00000454776.2_Silent_p.G154G|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	154					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAACACTTCGCCACTCGTCA	0.443																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(460-462)ggC>ggT		malate dehydrogenase 1B, NAD (soluble)							82.0	75.0	77.0					2																	207620181		2203	4300	6503	SO:0001819	synonymous_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207620181G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.462C>T	2.37:g.207620181G>A						MDH1B_ENST00000454776.2_Silent_p.G154G|MDH1B_ENST00000449792.1_Silent_p.G56G|MDH1B_ENST00000392214.2_Intron	p.G154G	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	737	-			154					A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	c.462C>T	CCDS33365.1																																																																																				0.443	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		43	286	0	0	0	1	0	43	286				
CSNK1A1L	122011	broad.mit.edu	37	13	37679424	37679424	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679424G>T	ENST00000379800.3	-	0	379					NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like						cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCTGGGCTCAGCCCTGACCCC	0.622																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37								casein kinase 1, alpha 1-like							49.0	46.0	47.0					13																	37679424		2203	4300	6503			122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679424G>T	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.-31C>A	13.37:g.37679424G>T								NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	0	379	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)						Q5T2N2	Translation_Start_Site	SNP	ENST00000379800.3	37		CCDS9363.1																																																																																				0.622	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		27	208	1	0	8.24728e-16	1	9.03206e-16	27	208				
PRMT3	10196	broad.mit.edu	37	11	20417453	20417453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20417453G>A	ENST00000331079.6	+	6	722	c.505G>A	c.(505-507)Gca>Aca	p.A169T	PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	169					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGAAGCCAGGGCACTGTCTGC	0.398																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(505-507)Gca>Aca		protein arginine methyltransferase 3							79.0	77.0	78.0					11																	20417453		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20417453G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.505G>A	11.37:g.20417453G>A	ENSP00000331879:p.Ala169Thr					PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	p.A169T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			6	722	+			169					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.505G>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372320	0.82573	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.26810	1.71;1.71	5.62	5.62	0.85841	.	0.045693	0.85682	D	0.000000	T	0.43634	0.1256	M	0.61703	1.905	0.58432	D	0.999999	P;D	0.69078	0.887;0.997	P;P	0.58210	0.69;0.835	T	0.06807	-1.0806	10	0.16896	T	0.51	-19.0595	19.6155	0.95632	0.0:0.0:1.0:0.0	.	107;169	O60678-2;O60678	.;ANM3_HUMAN	T	169;169;107	ENSP00000331879:A169T;ENSP00000397766:A107T	ENSP00000331879:A169T	A	+	1	0	PRMT3	20374029	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.473000	0.81007	2.801000	0.96364	0.650000	0.86243	GCA		0.398	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		66	291	0	0	0	1	0	66	291				
CIB2	10518	broad.mit.edu	37	15	78398138	78398138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398138C>T	ENST00000258930.3	-	5	813	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CIB2_ENST00000560618.1_Missense_Mutation_p.G119D|CIB2_ENST00000557846.1_Missense_Mutation_p.G113D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	162	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCCCAGCTTGCCGTCACCGTC	0.617																																						ENST00000258930.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(484-486)gGc>gAc		calcium and integrin binding family member 2							182.0	149.0	160.0					15																	78398138		2196	4293	6489	SO:0001583	missense	10518						calcium ion binding	g.chr15:78398138C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.485G>A	15.37:g.78398138C>T	ENSP00000258930:p.Gly162Asp					CIB2_ENST00000557846.1_Missense_Mutation_p.G113D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D|CIB2_ENST00000560618.1_Missense_Mutation_p.G119D	p.G162D	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			5	813	-			162			EF-hand 3.		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	37	c.485G>A	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025649	0.75390	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	D;D	0.83837	-1.77;-1.77	5.59	4.67	0.58626	EF-hand-like domain (1);	0.239373	0.43110	D	0.000604	D	0.91650	0.7361	M	0.91818	3.245	0.54753	D	0.999986	D;B	0.69078	0.997;0.439	D;B	0.63957	0.92;0.328	D	0.92658	0.6139	10	0.54805	T	0.06	-22.6145	13.2955	0.60294	0.0:0.9243:0.0:0.0757	.	162;162	B4DDF0;O75838	.;CIB2_HUMAN	D	162;119	ENSP00000258930:G162D;ENSP00000442459:G119D	ENSP00000258930:G162D	G	-	2	0	CIB2	76185193	1.000000	0.71417	0.994000	0.49952	0.852000	0.48524	3.234000	0.51320	1.364000	0.46038	0.591000	0.81541	GGC		0.617	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		72	258	0	0	0	1	0	72	258				
ZNF318	24149	broad.mit.edu	37	6	43305786	43305786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305786C>T	ENST00000361428.2	-	10	6027	c.5950G>A	c.(5950-5952)Gat>Aat	p.D1984N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1984					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGATGGACATCTTGTAGCTCC	0.453																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5950-5952)Gat>Aat		zinc finger protein 318							124.0	123.0	124.0					6																	43305786		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305786C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5950G>A	6.37:g.43305786C>T	ENSP00000354964:p.Asp1984Asn					ZNF318_ENST00000318149.3_Intron	p.D1984N	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6027	-			1984					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.5950G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240561	0.10023	.	.	ENSG00000171467	ENST00000361428	T	0.12255	2.7	6.08	2.36	0.29203	.	0.778709	0.11980	N	0.510918	T	0.03390	0.0098	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.33620	0.167	T	0.39722	-0.9600	10	0.46703	T	0.11	-1.15	8.5349	0.33357	0.0:0.6238:0.0:0.3762	.	1984	Q5VUA4	ZN318_HUMAN	N	1984	ENSP00000354964:D1984N	ENSP00000354964:D1984N	D	-	1	0	ZNF318	43413764	0.000000	0.05858	0.008000	0.14137	0.249000	0.25844	-0.323000	0.07997	0.471000	0.27319	0.655000	0.94253	GAT		0.453	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		95	486	0	0	0	1	0	95	486				
ZNF85	7639	broad.mit.edu	37	19	21132849	21132849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132849A>G	ENST00000328178.8	+	4	1642	c.1529A>G	c.(1528-1530)tAc>tGc	p.Y510C	ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C|ZNF85_ENST00000601023.1_Missense_Mutation_p.Y451C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	510					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCATACAAATGTGAA	0.358																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(1351-1353)tAc>tGc		zinc finger protein 85							27.0	30.0	29.0					19																	21132849		2154	4278	6432	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132849A>G	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1529A>G	19.37:g.21132849A>G	ENSP00000329793:p.Tyr510Cys					ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C|ZNF85_ENST00000328178.8_Missense_Mutation_p.Y510C	p.Y451C			Q03923	ZNF85_HUMAN			2	1998	+			510					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1352A>G	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452397	0.26074	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46814	0.1412	M	0.82630	2.6	0.23585	N	0.997358	B;D;D	0.89917	0.335;1.0;1.0	B;D;D	0.87578	0.079;0.998;0.99	T	0.21381	-1.0247	9	0.66056	D	0.02	.	4.7728	0.13164	0.5682:0.0:0.0:0.4318	.	477;451;510	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	510;477;385	ENSP00000329793:Y510C;ENSP00000342340:Y477C	ENSP00000329793:Y510C	Y	+	2	0	ZNF85	20924689	0.001000	0.12720	0.011000	0.14972	0.135000	0.20990	-0.032000	0.12266	0.569000	0.29329	0.379000	0.24179	TAC		0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		40	174	0	0	0	1	0	40	174				
NBAS	51594	broad.mit.edu	37	2	15534373	15534373	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15534373A>G	ENST00000281513.5	-	28	3260	c.3235T>C	c.(3235-3237)Ttg>Ctg	p.L1079L	NBAS_ENST00000441750.1_Silent_p.L959L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1079					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCCTCGTCAATCTAACCATC	0.353																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(3235-3237)Ttg>Ctg		neuroblastoma amplified sequence							49.0	46.0	47.0					2																	15534373		2201	4297	6498	SO:0001819	synonymous_variant	51594							g.chr2:15534373A>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3235T>C	2.37:g.15534373A>G						NBAS_ENST00000441750.1_Silent_p.L959L	p.L1079L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			28	3260	-			1079					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.3235T>C	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270526	0.23221	.	.	ENSG00000151779	ENST00000429842	.	.	.	5.48	-0.858	0.10689	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53279	-0.8461	4	.	.	.	.	10.5418	0.45037	0.5372:0.0:0.4628:0.0	.	.	.	.	T	176	.	.	I	-	2	0	NBAS	15451824	0.000000	0.05858	0.979000	0.43373	0.996000	0.88848	-0.341000	0.07811	-0.117000	0.11872	0.533000	0.62120	ATT		0.353	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		24	107	0	0	0	1	0	24	107				
TP53INP2	58476	broad.mit.edu	37	20	33298084	33298084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33298084G>A	ENST00000374810.3	+	5	1025	c.636G>A	c.(634-636)caG>caA	p.Q212Q	TP53INP2_ENST00000374809.2_Silent_p.Q212Q|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	212					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						TCATCTACCAGCCGTGCCAGC	0.697																																						ENST00000374810.3																			0				endometrium(1)|urinary_tract(1)	2						c.(634-636)caG>caA		tumor protein p53 inducible nuclear protein 2							23.0	22.0	22.0					20																	33298084		2203	4297	6500	SO:0001819	synonymous_variant	58476					nucleus		g.chr20:33298084G>A	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.636G>A	20.37:g.33298084G>A						TP53INP2_ENST00000374809.2_Silent_p.Q212Q|NCOA6_ENST00000593786.1_Intron	p.Q212Q	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN			5	1025	+			212					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Silent	SNP	ENST00000374810.3	37	c.636G>A	CCDS13240.1																																																																																				0.697	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	NM_021202		17	65	0	0	0	1	0	17	65				
SCN1A	6323	broad.mit.edu	37	2	166859067	166859067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166859067A>G	ENST00000303395.4	-	21	4198	c.4199T>C	c.(4198-4200)aTa>aCa	p.I1400T	SCN1A_ENST00000423058.2_Missense_Mutation_p.I1400T|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1372T|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1400					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTTCTTTCTATTAGTTTTAG	0.353																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4198-4200)aTa>aCa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100.0	98.0	99.0					2																	166859067		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166859067A>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4199T>C	2.37:g.166859067A>G	ENSP00000303540:p.Ile1400Thr					SCN1A_ENST00000303395.4_Missense_Mutation_p.I1400T|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1372T	p.I1400T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			21	4216	-			1400					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4199T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138074	0.56936	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96136	-3.92;-3.92;-3.87;-3.85	5.54	5.54	0.83059	Ion transport (1);	0.149996	0.48767	D	0.000179	D	0.94666	0.8280	L	0.37800	1.135	0.42774	D	0.99384	D;B;B	0.58620	0.983;0.157;0.078	P;B;B	0.56042	0.79;0.042;0.089	D	0.93124	0.6527	10	0.21014	T	0.42	.	14.5302	0.67920	1.0:0.0:0.0:0.0	.	1389;1372;1400	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	1400;1400;1389;1372	ENSP00000407030:I1400T;ENSP00000303540:I1400T;ENSP00000364554:I1389T;ENSP00000386312:I1372T	ENSP00000303540:I1400T	I	-	2	0	SCN1A	166567313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.324000	0.59228	2.226000	0.72624	0.482000	0.46254	ATA		0.353	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		94	268	0	0	0	1	0	94	268				
LAMB2	3913	broad.mit.edu	37	3	49168980	49168980	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168980G>T	ENST00000418109.1	-	6	800	c.636C>A	c.(634-636)tcC>tcA	p.S212S	LAMB2_ENST00000305544.4_Silent_p.S212S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	212	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCCTTCAGTGGATGGCTCAA	0.597																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(634-636)tcC>tcA		laminin, beta 2 (laminin S)							148.0	153.0	151.0					3																	49168980		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168980G>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.636C>A	3.37:g.49168980G>T						LAMB2_ENST00000305544.4_Silent_p.S212S	p.S212S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	800	-			212			Laminin N-terminal.		Q16321	Silent	SNP	ENST00000418109.1	37	c.636C>A	CCDS2789.1																																																																																				0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		204	1033	1	0	5.21138e-58	1	6.5303e-58	204	1033				
PCDH11X	27328	broad.mit.edu	37	X	91133466	91133466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91133466G>A	ENST00000373094.1	+	2	3072	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	743	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATGTTACAGACCTTGGTTT	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2227-2229)Gac>Aac		protocadherin 11 X-linked							72.0	62.0	66.0					X																	91133466		2202	4279	6481	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133466G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2227G>A	X.37:g.91133466G>A	ENSP00000362186:p.Asp743Asn					PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D743N	p.D743N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3072	+			743			Cadherin 7.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2227G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654637	0.29425	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.62723	1.935	0.43942	D	0.9966	D;P;D;D;D;D;D;D	0.89917	1.0;0.918;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.97110	0.999;0.882;0.999;0.999;0.999;1.0;0.999;0.999	T	0.69109	-0.5232	10	0.56958	D	0.05	.	16.3137	0.82906	0.0:0.0:1.0:0.0	.	743;743;743;743;743;743;743;743	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	743	ENSP00000378746:D743N;ENSP00000362186:D743N;ENSP00000362189:D743N;ENSP00000355040:D743N;ENSP00000362180:D743N;ENSP00000423762:D743N;ENSP00000355105:D743N;ENSP00000384758:D743N;ENSP00000298274:D743N	ENSP00000298274:D743N	D	+	1	0	PCDH11X	91020122	1.000000	0.71417	0.772000	0.31596	0.274000	0.26718	7.527000	0.81931	2.049000	0.60858	0.538000	0.68166	GAC		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		17	439	0	0	0	1	0	17	439				
FNIP1	96459	broad.mit.edu	37	5	131080272	131080272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131080272C>A	ENST00000510461.1	-	2	299	c.204G>T	c.(202-204)gaG>gaT	p.E68D	FNIP1_ENST00000307954.8_Missense_Mutation_p.E68D|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E68D|FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	68					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTGATATGTCCTCATTTCTTC	0.363																																						ENST00000514667.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(202-204)gaG>gaT		folliculin interacting protein 1							158.0	144.0	149.0					5																	131080272		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131080272C>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.204G>T	5.37:g.131080272C>A	ENSP00000421985:p.Glu68Asp					FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D|FNIP1_ENST00000510461.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307954.8_Missense_Mutation_p.E68D	p.E68D					KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	2	265	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.204G>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062649	0.36373	.	.	ENSG00000217128	ENST00000514667;ENST00000307968;ENST00000307954;ENST00000510461;ENST00000511848	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.88	1.64	0.23874	.	.	.	.	.	T	0.16300	0.0392	N	0.03948	-0.315	0.43819	D	0.99638	B;B;B;B;B	0.30563	0.096;0.011;0.037;0.285;0.0	B;B;B;B;B	0.28553	0.038;0.016;0.024;0.091;0.0	T	0.05683	-1.0870	9	0.21540	T	0.41	-8.4916	6.2545	0.20865	0.1222:0.5277:0.0:0.3501	.	68;68;68;68;68	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40;E9PCH4	.;.;.;FNIP1_HUMAN;.	D	68	ENSP00000426948:E68D;ENSP00000309266:E68D;ENSP00000310453:E68D;ENSP00000421985:E68D;ENSP00000425619:E68D	ENSP00000310453:E68D	E	-	3	2	FNIP1	131108171	0.571000	0.26659	1.000000	0.80357	0.986000	0.74619	-0.326000	0.07965	0.396000	0.25283	0.655000	0.94253	GAG		0.363	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		74	354	1	0	2.88734e-31	1	3.39666e-31	74	354				
GDAP2	54834	broad.mit.edu	37	1	118441835	118441835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441835T>C	ENST00000369443.5	-	7	889	c.640A>G	c.(640-642)Act>Gct	p.T214A	GDAP2_ENST00000464026.1_5'Flank|GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	214	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TTTTGGTAAGTACCCTGTGTC	0.423																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(640-642)Act>Gct		ganglioside induced differentiation associated protein 2							112.0	100.0	104.0					1																	118441835		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118441835T>C	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.640A>G	1.37:g.118441835T>C	ENSP00000358451:p.Thr214Ala					GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A	p.T214A	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	7	889	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	214			Macro.		Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.640A>G	CCDS897.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117044	0.37339	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.20332	2.08;2.08	5.44	3.12	0.35913	Appr-1-p processing (1);	0.253796	0.46442	D	0.000283	T	0.02230	0.0069	N	0.02916	-0.46	0.36223	D	0.852104	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.41787	-0.9489	10	0.12103	T	0.63	-5.7334	8.8728	0.35327	0.0:0.2142:0.0:0.7858	.	214;214	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	A	214	ENSP00000358451:T214A;ENSP00000358450:T214A	ENSP00000358450:T214A	T	-	1	0	GDAP2	118243358	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.999000	0.40806	0.375000	0.24679	-0.361000	0.07541	ACT		0.423	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		52	424	0	0	0	1	0	52	424				
BMPR2	659	broad.mit.edu	37	2	203420850	203420850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203420850C>T	ENST00000374580.4	+	12	3001	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	821					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCCCATGCTGCCACAACCCAA	0.458																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(2461-2463)gCc>gTc		bone morphogenetic protein receptor, type II (serine/threonine kinase)							83.0	74.0	77.0					2																	203420850		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420850C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2462C>T	2.37:g.203420850C>T	ENSP00000363708:p.Ala821Val					BMPR2_ENST00000374574.2_Intron	p.A821V	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			12	3001	+			821					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.2462C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269427	0.40095	.	.	ENSG00000204217	ENST00000374580	D	0.89485	-2.52	5.97	5.97	0.96955	.	0.329198	0.36778	N	0.002408	T	0.79511	0.4458	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73506	-0.3961	10	0.45353	T	0.12	.	10.7522	0.46216	0.0:0.7854:0.1427:0.0719	.	821	Q13873	BMPR2_HUMAN	V	821	ENSP00000363708:A821V	ENSP00000363708:A821V	A	+	2	0	BMPR2	203129095	0.784000	0.28713	1.000000	0.80357	0.986000	0.74619	1.333000	0.33816	2.836000	0.97738	0.655000	0.94253	GCC		0.458	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		58	275	0	0	0	1	0	58	275				
SLC35F4	341880	broad.mit.edu	37	14	58063507	58063507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58063507G>T	ENST00000339762.6	-	1	108	c.109C>A	c.(109-111)Cca>Aca	p.P37T	SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	37					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTATGTCCTGGCTTCCATACC	0.433																																						ENST00000339762.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(109-111)Cca>Aca		solute carrier family 35, member F4							122.0	122.0	122.0					14																	58063507		1960	4170	6130	SO:0001583	missense	341880							g.chr14:58063507G>T			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.109C>A	14.37:g.58063507G>T	ENSP00000342518:p.Pro37Thr					SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron	p.P37T							1	108	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.109C>A		.	.	.	.	.	.	.	.	.	.	G	9.591	1.126237	0.20959	.	.	ENSG00000151812	ENST00000339762	T	0.54866	0.55	4.28	2.44	0.29823	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.36040	-0.9764	8	0.87932	D	0	.	5.848	0.18677	0.104:0.1966:0.6994:0.0	.	37	A4IF30	S35F4_HUMAN	T	37	ENSP00000342518:P37T	ENSP00000342518:P37T	P	-	1	0	SLC35F4	57133260	0.099000	0.21834	0.001000	0.08648	0.006000	0.05464	0.773000	0.26661	0.748000	0.32831	0.650000	0.86243	CCA		0.433	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		21	134	1	0	8.34094e-07	1	8.61956e-07	21	134				
SLCO2B1	11309	broad.mit.edu	37	11	74914430	74914430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74914430G>A	ENST00000289575.5	+	13	2302	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	636					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TGTGGGCGTCGAGCTGTCTGT	0.607																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1906-1908)cGa>cAa		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						171.0	140.0	150.0					11																	74914430		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74914430G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1907G>A	11.37:g.74914430G>A	ENSP00000289575:p.Arg636Gln					SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q	p.R636Q	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			13	2302	+			636					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1907G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364276	0.41902	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.24	1.2	0.21068	Major facilitator superfamily domain, general substrate transporter (1);	0.526977	0.19505	N	0.112643	T	0.18467	0.0443	N	0.11154	0.105	0.09310	N	0.999998	B;B;B	0.23249	0.082;0.066;0.046	B;B;B	0.15484	0.013;0.011;0.013	T	0.23726	-1.0180	10	0.13108	T	0.6	.	7.8034	0.29187	0.3524:0.0:0.6476:0.0	.	492;409;636	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	Q	636;409;520;492;409;614	ENSP00000289575:R636Q;ENSP00000341286:R409Q;ENSP00000434112:R520Q;ENSP00000436324:R492Q;ENSP00000389653:R409Q;ENSP00000388912:R614Q	ENSP00000289575:R636Q	R	+	2	0	SLCO2B1	74592078	0.026000	0.19158	0.279000	0.24732	0.897000	0.52465	0.461000	0.21940	0.216000	0.20781	0.650000	0.86243	CGA		0.607	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		119	558	0	0	0	1	0	119	558				
ASXL3	80816	broad.mit.edu	37	18	31324318	31324318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31324318C>T	ENST00000269197.5	+	12	4506	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTGCAGGGCAGACCAGTGA	0.552											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(4504-4506)ggC>ggT		additional sex combs like 3 (Drosophila)							37.0	39.0	39.0					18																	31324318		2202	4299	6501	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324318C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4506C>T	18.37:g.31324318C>T			OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823		p.G1502G	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	4506	+			1502					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.4506C>T	CCDS45847.1																																																																																				0.552	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			36	157	0	0	0	1	0	36	157				
FBXO4	26272	broad.mit.edu	37	5	41939678	41939678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41939678C>T	ENST00000281623.3	+	6	1090	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	345					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTTTATTTGGCTCATGAGCTG	0.368																																						ENST00000281623.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(1033-1035)gCt>gTt		F-box protein 4							138.0	145.0	143.0					5																	41939678		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41939678C>T	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.1034C>T	5.37:g.41939678C>T	ENSP00000281623:p.Ala345Val					FBXO4_ENST00000509134.1_Intron	p.A345V	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN			6	1090	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	345					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.1034C>T	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.738338	0.89573	.	.	ENSG00000151876	ENST00000281623	T	0.57907	0.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.69420	-0.5150	10	0.66056	D	0.02	-10.8369	19.4929	0.95059	0.0:1.0:0.0:0.0	.	345	Q9UKT5	FBX4_HUMAN	V	345	ENSP00000281623:A345V	ENSP00000281623:A345V	A	+	2	0	FBXO4	41975435	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.949000	0.70257	2.689000	0.91719	0.556000	0.70494	GCT		0.368	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			9	409	0	0	0	1	0	9	409				
LAPTM5	7805	broad.mit.edu	37	1	31208047	31208047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31208047C>A	ENST00000294507.3	-	7	746	c.672G>T	c.(670-672)gaG>gaT	p.E224D		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	224					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTTCTCTTCTCCTCCACCG	0.537																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(670-672)gaG>gaT		lysosomal protein transmembrane 5							314.0	273.0	287.0					1																	31208047		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31208047C>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.672G>T	1.37:g.31208047C>A	ENSP00000294507:p.Glu224Asp						p.E224D	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	7	746	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	224					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.672G>T	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	7.208	0.594858	0.13875	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.7	0.173	0.15036	.	0.836425	0.10819	N	0.630715	T	0.32071	0.0817	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.23013	-1.0200	10	0.26408	T	0.33	-1.0306	6.6261	0.22830	0.0:0.3532:0.4728:0.1741	.	224	Q13571	LAPM5_HUMAN	D	224	ENSP00000294507:E224D	ENSP00000294507:E224D	E	-	3	2	LAPTM5	30980634	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	0.306000	0.19279	0.321000	0.23259	-0.844000	0.03045	GAG		0.537	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		91	866	1	0	5.91559e-30	1	6.92642e-30	91	866				
MYH7B	57644	broad.mit.edu	37	20	33578604	33578604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578604G>A	ENST00000262873.7	+	21	2259	c.2167G>A	c.(2167-2169)Gtc>Atc	p.V723I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	681	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCGCTGCATTGTCCCCAACGA	0.627																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2167-2169)Gtc>Atc		myosin, heavy chain 7B, cardiac muscle, beta							54.0	60.0	58.0					20																	33578604		2043	4197	6240	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578604G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2167G>A	20.37:g.33578604G>A	ENSP00000262873:p.Val723Ile						p.V723I	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		21	2259	+			681			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2167G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279273	0.05642	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004041	T	0.45175	0.1329	N	0.00162	-1.95	0.37813	D	0.928124	B	0.09022	0.002	B	0.10450	0.005	T	0.60321	-0.7286	10	0.02654	T	1	.	4.53	0.12001	0.273:0.0:0.727:0.0	.	681	A7E2Y1	MYH7B_HUMAN	I	723	ENSP00000262873:V723I	ENSP00000262873:V723I	V	+	1	0	MYH7B	33042265	1.000000	0.71417	0.998000	0.56505	0.427000	0.31564	7.426000	0.80270	2.422000	0.82143	0.561000	0.74099	GTC		0.627	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		16	333	0	0	0	1	0	16	333				
SFXN1	94081	broad.mit.edu	37	5	174940559	174940559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940559C>T	ENST00000321442.5	+	7	944	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	230					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCAAGTTGTCGTGTCCAGGA	0.532																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(688-690)gtC>gtT		sideroflexin 1							106.0	95.0	99.0					5																	174940559		2203	4300	6503	SO:0001819	synonymous_variant	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174940559C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.690C>T	5.37:g.174940559C>T							p.V230V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	944	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	230					B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	37	c.690C>T	CCDS4394.1																																																																																				0.532	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		90	236	0	0	0	1	0	90	236				
CD160	11126	broad.mit.edu	37	1	145704275	145704275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145704275G>A	ENST00000369288.2	-	4	359	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	CD160_ENST00000401557.3_Missense_Mutation_p.H48Y|CD160_ENST00000235933.6_Missense_Mutation_p.H48Y|CD160_ENST00000369290.1_Intron	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	48	Ig-like V-type.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCTTTCTTATGCCATACAGTA	0.448																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000235933.6																			0				endometrium(3)|large_intestine(2)|lung(2)	7						c.(142-144)Cat>Tat		CD160 molecule							97.0	93.0	94.0					1																	145704275		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145704275G>A	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.142C>T	1.37:g.145704275G>A	ENSP00000358294:p.His48Tyr					CD160_ENST00000369288.2_Missense_Mutation_p.H48Y|CD160_ENST00000401557.3_Missense_Mutation_p.H48Y|CD160_ENST00000369290.1_Intron	p.H48Y			O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		2	244	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		48			Ig-like V-type.			Missense_Mutation	SNP	ENST00000369288.2	37	c.142C>T	CCDS923.1	.	.	.	.	.	.	.	.	.	.	G	1.750	-0.489403	0.04352	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.03242	4.0;4.0;4.0	4.34	-1.06	0.10002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.702414	0.12343	N	0.477329	T	0.00666	0.0022	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44097	-0.9350	10	0.19147	T	0.46	1.5738	7.9615	0.30074	0.4802:0.0:0.5198:0.0	.	48	O95971	BY55_HUMAN	Y	48	ENSP00000235933:H48Y;ENSP00000358294:H48Y;ENSP00000385199:H48Y	ENSP00000235933:H48Y	H	-	1	0	CD160	144415632	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.458000	0.06737	-0.109000	0.12044	-0.251000	0.11542	CAT		0.448	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		22	283	0	0	0	1	0	22	283				
SRSF6	6431	broad.mit.edu	37	20	42089353	42089353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42089353C>T	ENST00000244020.3	+	6	791	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	229	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TTCCAGGTCGCGGAGCAAAGG	0.443																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(685-687)Cgg>Tgg		serine/arginine-rich splicing factor 6							62.0	55.0	57.0					20																	42089353		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42089353C>T	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.685C>T	20.37:g.42089353C>T	ENSP00000244020:p.Arg229Trp						p.R229W	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			6	791	+			229			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.685C>T	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152134	0.38021	.	.	ENSG00000124193	ENST00000244020	T	0.17213	2.29	5.97	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.42494	0.1205	M	0.78456	2.415	0.51482	D	0.999929	D	0.89917	1.0	D	0.77557	0.99	T	0.41680	-0.9495	10	0.72032	D	0.01	.	13.0512	0.58957	0.2927:0.7073:0.0:0.0	.	229	Q13247	SRSF6_HUMAN	W	229	ENSP00000244020:R229W	ENSP00000244020:R229W	R	+	1	2	SRSF6	41522767	0.892000	0.30473	0.718000	0.30602	0.803000	0.45373	1.135000	0.31454	1.489000	0.48450	0.585000	0.79938	CGG		0.443	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		49	178	0	0	0	1	0	49	178				
SLC41A3	54946	broad.mit.edu	37	3	125725383	125725383	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725383G>T	ENST00000315891.6	-	12	1629	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D	SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D|SLC41A3_ENST00000360370.4_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	464						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGGCACAGCAGCAGTGTGGCC	0.507																																						ENST00000315891.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1390-1392)gCt>gAt		solute carrier family 41, member 3							57.0	55.0	56.0					3																	125725383		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125725383G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1391C>A	3.37:g.125725383G>T	ENSP00000326070:p.Ala464Asp					SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000383598.2_3'UTR	p.A464D	NM_001008485.1|NM_017836.3	NP_001008485.1|NP_060306.3	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	12	1629	-			464					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.1391C>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489118	0.12641	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34472	1.36;1.36	3.69	-0.323	0.12709	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B;B	0.22414	0.069;0.041	B;B	0.18871	0.023;0.015	T	0.30238	-0.9985	9	0.05525	T	0.97	-3.3093	3.513	0.07714	0.2091:0.0:0.5062:0.2847	.	428;464	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	428;464	ENSP00000264471:A428D;ENSP00000326070:A464D	ENSP00000326070:A464D	A	-	2	0	SLC41A3	127208073	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.395000	0.07287	-0.081000	0.12662	-0.948000	0.02665	GCT		0.507	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		37	153	1	0	1.03484e-13	1	1.11885e-13	37	153				
CFAP97	57587	broad.mit.edu	37	4	186111567	186111567	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111567C>A	ENST00000458385.2	-	2	903	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		262										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTAATGTCTGGAGTTGAT	0.398																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(784-786)Gac>Tac		KIAA1430							107.0	92.0	96.0					4																	186111567		1884	4107	5991	SO:0001583	missense	57587							g.chr4:186111567C>A																												ENST00000458385.2:c.784G>T	4.37:g.186111567C>A	ENSP00000409964:p.Asp262Tyr					KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y	p.D262Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	903	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	262					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.784G>T	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777121	0.70107	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.60920	0.7;0.15;0.15	5.55	5.55	0.83447	.	0.065347	0.64402	D	0.000013	T	0.77039	0.4072	M	0.72894	2.215	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78285	-0.2263	10	0.87932	D	0	-15.6196	19.8686	0.96842	0.0:1.0:0.0:0.0	.	262;262	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	Y	262	ENSP00000409964:D262Y;ENSP00000423312:D262Y;ENSP00000296775:D262Y	ENSP00000296775:D262Y	D	-	1	0	KIAA1430	186348561	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.228000	0.72288	2.768000	0.95171	0.655000	0.94253	GAC		0.398	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			29	95	1	0	8.58068e-18	1	9.49213e-18	29	95				
GFRA1	2674	broad.mit.edu	37	10	117856270	117856270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117856270C>T	ENST00000355422.6	-	7	1326	c.776G>A	c.(775-777)cGc>cAc	p.R259H	GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R254H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	259					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ATCCGCAAGGCGAGATCTACA	0.473																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(760-762)cGc>cAc		GDNF family receptor alpha 1							34.0	37.0	36.0					10																	117856270		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117856270C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.776G>A	10.37:g.117856270C>T	ENSP00000347591:p.Arg259His					GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R259H	p.R254H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1128	-		Lung NSC(174;0.21)	259					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.761G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413916	0.96072	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.64085	-0.08;-0.08	5.93	5.93	0.95920	GDNF/GAS1 (2);	0.048834	0.85682	D	0.000000	T	0.79215	0.4408	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.941	T	0.78773	-0.2073	10	0.52906	T	0.07	-33.882	18.5344	0.91004	0.0:1.0:0.0:0.0	.	259;254	P56159;P56159-2	GFRA1_HUMAN;.	H	259;254;254;138;254	ENSP00000358239:R254H;ENSP00000442179:R138H	ENSP00000347591:R254H	R	-	2	0	GFRA1	117846260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.420000	0.80191	2.826000	0.97356	0.655000	0.94253	CGC		0.473	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		17	69	0	0	0	1	0	17	69				
CNOT10	25904	broad.mit.edu	37	3	32774973	32774973	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32774973T>C	ENST00000328834.5	+	11	1590	c.1274T>C	c.(1273-1275)gTt>gCt	p.V425A	CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	425					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGTCTATTGTTGGTCAAGGC	0.294																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1273-1275)gTt>gCt		CCR4-NOT transcription complex, subunit 10							78.0	82.0	81.0					3																	32774973		2203	4299	6502	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32774973T>C	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1274T>C	3.37:g.32774973T>C	ENSP00000330060:p.Val425Ala					CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A	p.V425A	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			11	1590	+			425					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.1274T>C	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686005	0.88639	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.52754	1.25;1.2;0.65;1.17	5.74	5.74	0.90152	.	0.105420	0.64402	D	0.000004	T	0.63686	0.2532	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.63880	0.98;0.993;0.983;0.988	P;P;P;P	0.60789	0.718;0.879;0.826;0.675	T	0.64778	-0.6327	10	0.52906	T	0.07	-24.444	16.3426	0.83092	0.0:0.0:0.0:1.0	.	485;425;424;425	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	A	425;425;325;197;485	ENSP00000329376:V425A;ENSP00000330060:V425A;ENSP00000442552:V197A;ENSP00000399862:V485A	ENSP00000330060:V425A	V	+	2	0	CNOT10	32749977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.317000	0.78254	0.460000	0.39030	GTT		0.294	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		32	155	0	0	0	1	0	32	155				
TLR9	54106	broad.mit.edu	37	3	52256063	52256063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256063C>T	ENST00000360658.2	-	2	2902	c.2269G>A	c.(2269-2271)Gta>Ata	p.V757I	TLR9_ENST00000494383.1_Missense_Mutation_p.C910Y|TLR9_ENST00000597542.1_Missense_Mutation_p.V781I	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	757					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TTGGCGCTTACATCTAGTATT	0.637																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2341-2343)Gta>Ata		toll-like receptor 9	Chloroquine(DB00608)						52.0	54.0	54.0					3																	52256063		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256063C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2269G>A	3.37:g.52256063C>T	ENSP00000353874:p.Val757Ile					TLR9_ENST00000494383.1_Missense_Mutation_p.C910Y|TLR9_ENST00000360658.2_Missense_Mutation_p.V757I	p.V781I			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3298	-			757					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2341G>A	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.78|11.78	1.740014|1.740014	0.30865|0.30865	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.56275	.|0.47	5.14|5.14	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.33938	.|N	.|0.004413	T|T	0.26195|0.26195	0.0639|0.0639	N|N	0.03608|0.03608	-0.345|-0.345	0.24419|0.24419	N|N	0.994621|0.994621	.|B;P	.|0.38148	.|0.114;0.62	.|B;B	.|0.36092	.|0.055;0.217	T|T	0.10520|0.10520	-1.0626|-1.0626	5|10	.|0.44086	.|T	.|0.13	.|.	8.2711|8.2711	0.31844|0.31844	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|854;757	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	Y|I	910|757	.|ENSP00000353874:V757I	.|ENSP00000353874:V757I	C|V	-|-	2|1	0|0	RP11-330H6.5|TLR9	52231103|52231103	0.003000|0.003000	0.15002|0.15002	0.255000|0.255000	0.24374|0.24374	0.066000|0.066000	0.16364|0.16364	-0.002000|-0.002000	0.12924|0.12924	2.387000|2.387000	0.81309|0.81309	0.462000|0.462000	0.41574|0.41574	TGT|GTA		0.637	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			76	381	0	0	0	1	0	76	381				
RABL3	285282	broad.mit.edu	37	3	120428633	120428633	+	Missense_Mutation	SNP	C	C	T	rs373639108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120428633C>T	ENST00000273375.3	-	3	291	c.262G>A	c.(262-264)Gta>Ata	p.V88I	RABL3_ENST00000483733.1_Missense_Mutation_p.V88I|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	88	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTACCATTTACGGAGTTGTAG	0.383																																						ENST00000273375.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17						c.(262-264)Gta>Ata		RAB, member of RAS oncogene family-like 3		C	ILE/VAL	0,4406		0,0,2203	83.0	82.0	82.0		262	3.9	1.0	3		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	RABL3	NM_173825.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	88/237	120428633	1,13005	2203	4300	6503	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120428633C>T	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.262G>A	3.37:g.120428633C>T	ENSP00000273375:p.Val88Ile					RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.V88I	p.V88I	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	291	-			88			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.262G>A	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103688	0.08731	0.0	1.16E-4	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.74526	-0.85;-0.85	5.72	3.94	0.45596	.	0.171115	0.50627	N	0.000107	T	0.42517	0.1206	N	0.02697	-0.525	0.42127	D	0.99145	B	0.12013	0.005	B	0.08055	0.003	T	0.12915	-1.0529	10	0.15952	T	0.53	-3.7258	2.9984	0.06005	0.1445:0.5599:0.1399:0.1558	.	88	Q5HYI8	RABL3_HUMAN	I	88	ENSP00000273375:V88I;ENSP00000419986:V88I	ENSP00000273375:V88I	V	-	1	0	RABL3	121911323	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	2.196000	0.42686	0.766000	0.33244	0.655000	0.94253	GTA		0.383	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		22	267	0	0	0	1	0	22	267				
FGFR3	2261	broad.mit.edu	37	4	1805440	1805440	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805440G>A	ENST00000260795.2	+	7	1054	c.952G>A	c.(952-954)Gac>Aac	p.D318N	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.D318N			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	318	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TAACACCACCGACAAGGAGCT	0.607		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000440486.2		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(952-954)Gac>Aac		fibroblast growth factor receptor 3	Palifermin(DB00039)						80.0	75.0	77.0					4																	1805440		2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1805440G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.952G>A	4.37:g.1805440G>A	ENSP00000260795:p.Asp318Asn					FGFR3_ENST00000260795.2_Missense_Mutation_p.D318N|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron	p.D318N	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		8	1208	+		Breast(71;0.212)|all_epithelial(65;0.241)	318			Ig-like C2-type 3.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.952G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.433429	0.62844	.	.	ENSG00000068078	ENST00000481110;ENST00000440486;ENST00000260795;ENST00000507588	D;D;D;T	0.96041	-3.89;-3.89;-3.89;-1.33	4.29	3.44	0.39384	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212673	0.48286	D	0.000196	D	0.92149	0.7511	L	0.33792	1.035	0.80722	D	1	P;P;B;P	0.47762	0.9;0.824;0.142;0.558	P;B;B;B	0.46026	0.501;0.336;0.081;0.076	D	0.89021	0.3435	10	0.25106	T	0.35	.	12.1103	0.53836	0.085:0.0:0.915:0.0	.	281;318;318;318	Q8NI15;P22607-4;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	N	318;318;318;104	ENSP00000420533:D318N;ENSP00000414914:D318N;ENSP00000260795:D318N;ENSP00000427289:D104N	ENSP00000260795:D318N	D	+	1	0	FGFR3	1775238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.623000	0.83113	0.908000	0.36671	0.561000	0.74099	GAC		0.607	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		39	186	0	0	0	1	0	39	186				
SYNE2	23224	broad.mit.edu	37	14	64496734	64496734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64496734C>A	ENST00000344113.4	+	44	7048	c.6836C>A	c.(6835-6837)cCt>cAt	p.P2279H	SYNE2_ENST00000554584.1_Missense_Mutation_p.P2279H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.P2279H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2279					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGATAAGCCTGTGGATCAA	0.378																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6835-6837)cCt>cAt		spectrin repeat containing, nuclear envelope 2							69.0	67.0	68.0					14																	64496734		1840	4082	5922	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64496734C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6836C>A	14.37:g.64496734C>A	ENSP00000341781:p.Pro2279His					SYNE2_ENST00000344113.4_Missense_Mutation_p.P2279H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.P2279H	p.P2279H	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	44	7066	+			2279					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6836C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609305	0.28623	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.36878	1.23;1.23;1.23	5.03	3.17	0.36434	.	0.856008	0.10108	N	0.715018	T	0.33818	0.0876	N	0.24115	0.695	0.19945	N	0.999941	D;D	0.61697	0.983;0.99	P;P	0.56474	0.635;0.799	T	0.05550	-1.0878	10	0.07813	T	0.8	.	9.4087	0.38477	0.0:0.8198:0.0:0.1802	.	2279;2279	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2279	ENSP00000350719:P2279H;ENSP00000341781:P2279H;ENSP00000452570:P2279H	ENSP00000261678:P2279H	P	+	2	0	SYNE2	63566487	0.014000	0.17966	0.009000	0.14445	0.889000	0.51656	2.798000	0.47884	1.249000	0.43950	0.655000	0.94253	CCT		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		37	154	1	0	9.85521e-28	1	1.14271e-27	37	154				
TMCC3	57458	broad.mit.edu	37	12	94976014	94976014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976014C>T	ENST00000261226.4	-	2	510	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	127						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGCAGCTGGGCGATGGAGTGA	0.483																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(379-381)Gcc>Acc		transmembrane and coiled-coil domain family 3							102.0	95.0	97.0					12																	94976014		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94976014C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.379G>A	12.37:g.94976014C>T	ENSP00000261226:p.Ala127Thr					TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	p.A127T	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	510	-			127					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.379G>A	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058467	0.76074	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.55413	0.78;0.78;0.52	5.74	4.83	0.62350	.	0.137360	0.64402	D	0.000003	T	0.49660	0.1570	M	0.76574	2.34	0.58432	D	0.999996	P	0.48089	0.905	B	0.37601	0.254	T	0.54860	-0.8230	10	0.37606	T	0.19	-18.7566	12.5217	0.56062	0.1326:0.7399:0.1275:0.0	.	127	Q9ULS5	TMCC3_HUMAN	T	127;96;96	ENSP00000261226:A127T;ENSP00000449888:A96T;ENSP00000450078:A96T	ENSP00000261226:A127T	A	-	1	0	TMCC3	93500145	0.998000	0.40836	0.794000	0.32065	0.973000	0.67179	3.773000	0.55333	1.528000	0.49103	0.561000	0.74099	GCC		0.483	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		79	337	0	0	0	1	0	79	337				
CDC42SE2	56990	broad.mit.edu	37	5	130721245	130721245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130721245C>T	ENST00000505065.1	+	4	585	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	CDC42SE2_ENST00000503291.1_5'UTR|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	22	Poly-Arg.				phagocytosis (GO:0006909)|regulation of cell shape (GO:0008360)|regulation of signal transduction (GO:0009966)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAAAGGCGACGGCGGATTGA	0.373																																						ENST00000505065.1																			0				breast(1)|large_intestine(1)|skin(1)	3						c.(64-66)Cgg>Tgg		CDC42 small effector 2							99.0	95.0	96.0					5																	130721245		2203	4300	6503	SO:0001583	missense	56990				phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity	g.chr5:130721245C>T	AF189692	CCDS34224.1	5q31.1	2008-02-05				ENSG00000158985			18547	protein-coding gene	gene with protein product						10816584	Standard	NM_020240		Approved	FLJ21967, SPEC2	uc003kvj.3	Q9NRR3		ENST00000505065.1:c.64C>T	5.37:g.130721245C>T	ENSP00000427421:p.Arg22Trp					CDC42SE2_ENST00000503291.1_5'UTR|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W	p.R22W			Q9NRR3	C42S2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	585	+		all_cancers(142;0.0525)|Breast(839;0.198)	22			Poly-Arg.		B2R622|Q4KMT9	Missense_Mutation	SNP	ENST00000505065.1	37	c.64C>T	CCDS34224.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063430	0.55432	.	.	ENSG00000158985	ENST00000395246;ENST00000360515;ENST00000505065	.	.	.	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000011	T	0.62319	0.2418	.	.	.	0.48632	D	0.999688	D	0.64830	0.994	P	0.52066	0.689	T	0.65129	-0.6243	8	0.66056	D	0.02	-46.6221	10.266	0.43455	0.1969:0.8031:0.0:0.0	.	22	Q9NRR3	C42S2_HUMAN	W	22	.	ENSP00000353706:R22W	R	+	1	2	CDC42SE2	130749144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.663000	0.46774	2.797000	0.96272	0.563000	0.77884	CGG		0.373	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	NM_020240		71	319	0	0	0	1	0	71	319				
USH2A	7399	broad.mit.edu	37	1	216270488	216270488	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216270488A>G	ENST00000307340.3	-	22	5081	c.4695T>C	c.(4693-4695)aaT>aaC	p.N1565N	USH2A_ENST00000366943.2_Silent_p.N1565N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1565	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCTTCCTGATTGCCAGGTG	0.378										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4693-4695)aaT>aaC		Usher syndrome 2A (autosomal recessive, mild)							80.0	76.0	77.0					1																	216270488		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216270488A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4695T>C	1.37:g.216270488A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.N1565N	p.N1565N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	22	5081	-			1565			Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.4695T>C	CCDS31025.1																																																																																				0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		23	280	0	0	0	1	0	23	280				
LRP1B	53353	broad.mit.edu	37	2	141359166	141359166	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141359166T>C	ENST00000389484.3	-	42	7813	c.6842A>G	c.(6841-6843)gAt>gGt	p.D2281G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2281					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTACAGTGTATCCCAGGCTCT	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6841-6843)gAt>gGt		low density lipoprotein receptor-related protein 1B							132.0	115.0	120.0					2																	141359166		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359166T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6842A>G	2.37:g.141359166T>C	ENSP00000374135:p.Asp2281Gly	TSP Lung(27;0.18)					p.D2281G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	42	7813	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2281					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6842A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639947	0.87760	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88586	-2.4	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.128995	0.49916	D	0.000131	D	0.93802	0.8018	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.93964	0.7243	10	0.51188	T	0.08	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2281	Q9NZR2	LRP1B_HUMAN	G	2281;2219	ENSP00000374135:D2281G	ENSP00000374135:D2281G	D	-	2	0	LRP1B	141075636	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	7.949000	0.87791	2.015000	0.59207	0.459000	0.35465	GAT		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	189	0	0	0	1	0	15	189				
TMEM132D	121256	broad.mit.edu	37	12	130185005	130185005	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185005C>T	ENST00000422113.2	-	2	644	c.318G>A	c.(316-318)gtG>gtA	p.V106V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	106					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AATCCTGGGGCACCACTTGCT	0.502																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(316-318)gtG>gtA		transmembrane protein 132D							66.0	68.0	67.0					12																	130185005		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185005C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.318G>A	12.37:g.130185005C>T							p.V106V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	644	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	106					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.318G>A	CCDS9266.1																																																																																				0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		49	240	0	0	0	1	0	49	240				
CTTNBP2	83992	broad.mit.edu	37	7	117417759	117417759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117417759G>A	ENST00000160373.3	-	8	2675	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	862					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGTACATAAGAAGCTTGAGG	0.468																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2584-2586)Ctt>Ttt		cortactin binding protein 2							71.0	72.0	72.0					7																	117417759		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117417759G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2584C>T	7.37:g.117417759G>A	ENSP00000160373:p.Leu862Phe						p.L862F	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	8	2675	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		862					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2584C>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.027791|4.027791	0.75390|0.75390	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.78126|.	-1.15|.	5.46|5.46	4.57|4.57	0.56435|0.56435	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72645|0.72645	0.3486|0.3486	M|M	0.71296|0.71296	2.17|2.17	0.54753|0.54753	D|D	0.999987|0.999987	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.73219|0.73219	-0.4052|-0.4052	10|5	0.87932|.	D|.	0|.	-22.5799|-22.5799	14.9195|14.9195	0.70826|0.70826	0.0701:0.0:0.9299:0.0|0.0701:0.0:0.9299:0.0	.|.	862|.	Q8WZ74|.	CTTB2_HUMAN|.	F|F	862|349	ENSP00000160373:L862F|.	ENSP00000160373:L862F|.	L|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117204995|117204995	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.803000|0.803000	0.45373|0.45373	6.945000|6.945000	0.75947|0.75947	1.410000|1.410000	0.46936|0.46936	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		45	239	0	0	0	1	0	45	239				
ACTN2	88	broad.mit.edu	37	1	236902782	236902782	+	Missense_Mutation	SNP	C	C	T	rs1150181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902782C>T	ENST00000366578.4	+	10	1223	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	353					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GACCAAGCTGCGGATCAGCAA	0.612																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1057-1059)Cgg>Tgg		actinin, alpha 2							128.0	100.0	109.0					1																	236902782		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902782C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1057C>T	1.37:g.236902782C>T	ENSP00000355537:p.Arg353Trp					ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	p.R353W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1223	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	353					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1057C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019319	0.75275	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.70045	-0.45;-0.45	5.51	-1.38	0.09027	.	0.049402	0.64402	D	0.000001	D	0.84678	0.5525	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.83275	0.989;0.916;0.996	D	0.89354	0.3663	10	0.87932	D	0	.	17.1506	0.86777	0.7646:0.2354:0.0:0.0	.	353;123;353	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	W	353;353;122	ENSP00000443495:R353W;ENSP00000355537:R353W	ENSP00000355537:R353W	R	+	1	2	ACTN2	234969405	0.006000	0.16342	0.998000	0.56505	0.994000	0.84299	-1.101000	0.03336	0.089000	0.17243	0.555000	0.69702	CGG		0.612	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		55	269	0	0	0	1	0	55	269				
MICALCL	84953	broad.mit.edu	37	11	12371470	12371470	+	Silent	SNP	G	G	A	rs189290736	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12371470G>A	ENST00000256186.2	+	7	2106	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	605					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.S605S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GATATGAGTCGGAGCTCCTAA	0.473													G|||	8	0.00159744	0.0061	0.0	5008	,	,		19942	0.0		0.0	False		,,,				2504	0.0					ENST00000256186.2																			1	Substitution - coding silent(1)	p.S605S(1)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1813-1815)tcG>tcA		MICAL C-terminal like		G		17,3849		0,17,1916	94.0	89.0	91.0		1815	-2.8	1.0	11		91	0,8254		0,0,4127	no	coding-synonymous	MICALCL	NM_032867.2		0,17,6043	AA,AG,GG		0.0,0.4397,0.1403		605/696	12371470	17,12103	1933	4127	6060	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12371470G>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1815G>A	11.37:g.12371470G>A							p.S605S	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	7	2106	+			605					Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.1815G>A	CCDS41620.1																																																																																				0.473	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		7	318	0	0	0	1	0	7	318				
SLC25A34	284723	broad.mit.edu	37	1	16064705	16064705	+	Missense_Mutation	SNP	T	T	G	rs554117714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16064705T>G	ENST00000294454.5	+	3	643	c.562T>G	c.(562-564)Ttc>Gtc	p.F188V	SLC25A34_ENST00000489568.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|RP11-169K16.4_ENST00000418525.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	188					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCCACCTTCGCCTCTGC	0.667																																						ENST00000294454.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9						c.(562-564)Ttc>Gtc		solute carrier family 25, member 34							33.0	40.0	37.0					1																	16064705		2203	4300	6503	SO:0001583	missense	284723				transport	integral to membrane|mitochondrial inner membrane		g.chr1:16064705T>G	BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"""Solute carriers"""	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.562T>G	1.37:g.16064705T>G	ENSP00000294454:p.Phe188Val					SLC25A34_ENST00000489568.1_3'UTR	p.F188V	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	643	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	188					Q68DV0	Missense_Mutation	SNP	ENST00000294454.5	37	c.562T>G	CCDS162.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393231	0.62066	.	.	ENSG00000162461	ENST00000294454	T	0.79454	-1.27	5.28	5.28	0.74379	Mitochondrial carrier domain (2);	0.119373	0.56097	D	0.000023	D	0.90484	0.7019	M	0.92219	3.285	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.92838	0.6286	10	0.87932	D	0	.	15.208	0.73195	0.0:0.0:0.0:1.0	.	188	Q6PIV7	S2534_HUMAN	V	188	ENSP00000294454:F188V	ENSP00000294454:F188V	F	+	1	0	SLC25A34	15937292	1.000000	0.71417	0.993000	0.49108	0.044000	0.14063	7.349000	0.79376	1.980000	0.57719	0.460000	0.39030	TTC		0.667	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008467.1	NM_207348		7	251	0	0	0	1	0	7	251				
PHF2	5253	broad.mit.edu	37	9	96392276	96392276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96392276G>A	ENST00000359246.4	+	2	490	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PHF2_ENST00000375376.4_Silent_p.E41E	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	41				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGAGGAGGAGGCGCCCGACA	0.542																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(121-123)gaG>gaA		PHD finger protein 2							155.0	129.0	138.0					9																	96392276		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96392276G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.123G>A	9.37:g.96392276G>A						PHF2_ENST00000375376.4_Silent_p.E41E	p.E41E	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	2	490	+		Myeloproliferative disorder(762;0.0255)	41	FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).				Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.123G>A	CCDS35069.1																																																																																				0.542	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		72	412	0	0	0	1	0	72	412				
CARD9	64170	broad.mit.edu	37	9	139265005	139265005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139265005G>T	ENST00000371732.5	-	5	941	c.776C>A	c.(775-777)gCc>gAc	p.A259D	CARD9_ENST00000371734.3_Missense_Mutation_p.A259D|CARD9_ENST00000315908.7_Missense_Mutation_p.A259D|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	259					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCACCCGGGCCTGGAGCAG	0.711																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(775-777)gCc>gAc		caspase recruitment domain family, member 9							17.0	16.0	17.0					9																	139265005		2189	4294	6483	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139265005G>T	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.776C>A	9.37:g.139265005G>T	ENSP00000360797:p.Ala259Asp					CARD9_ENST00000315908.7_Missense_Mutation_p.A259D|CARD9_ENST00000371734.3_Missense_Mutation_p.A259D	p.A259D	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	5	941	-		Myeloproliferative disorder(178;0.0511)	259					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.776C>A	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931385	0.52866	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.33865	1.39;1.39;1.39	3.4	3.4	0.38934	.	0.156398	0.41396	D	0.000893	T	0.55878	0.1948	M	0.72894	2.215	0.49051	D	0.999744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.988	T	0.55522	-0.8128	10	0.28530	T	0.3	-27.2828	14.3098	0.66407	0.0:0.0:1.0:0.0	.	155;259;259	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	D	259	ENSP00000360799:A259D;ENSP00000360797:A259D;ENSP00000323719:A259D	ENSP00000323719:A259D	A	-	2	0	CARD9	138384826	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	4.611000	0.61162	1.894000	0.54839	0.467000	0.42956	GCC		0.711	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		18	97	1	0	3.52763e-06	1	3.62938e-06	18	97				
SLFN12L	100506736	broad.mit.edu	37	17	33806674	33806674	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33806674G>T	ENST00000260908.7	-	2	672	c.555C>A	c.(553-555)gcC>gcA	p.A185A	SLFN12L_ENST00000361112.4_Silent_p.A214A|SLFN12L_ENST00000449046.1_Silent_p.A216A|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	185						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATCAACACAGGCCCTTTTTG	0.388																																						ENST00000260908.7																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(553-555)gcC>gcA		schlafen family member 12-like							71.0	54.0	59.0					17																	33806674		692	1591	2283	SO:0001819	synonymous_variant	100506736					integral to membrane	ATP binding	g.chr17:33806674G>T	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.555C>A	17.37:g.33806674G>T						SLFN12L_ENST00000361112.4_Silent_p.A214A|SLFN12L_ENST00000449046.1_Silent_p.A216A	p.A185A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN			2	672	-			217					F5H6G3	Silent	SNP	ENST00000260908.7	37	c.555C>A	CCDS56026.1																																																																																				0.388	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		23	111	1	0	1.50039e-11	1	1.60151e-11	23	111				
EML3	256364	broad.mit.edu	37	11	62376231	62376231	+	Missense_Mutation	SNP	C	C	T	rs149696913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62376231C>T	ENST00000394773.2	-	8	1283	c.976G>A	c.(976-978)Gct>Act	p.A326T	EML3_ENST00000531557.1_Missense_Mutation_p.A109T|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000529309.1_Missense_Mutation_p.A326T|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.A327T	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	326						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCACTCCAGCTGTCTGTCCC	0.527																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(976-978)Gct>Act		echinoderm microtubule associated protein like 3		C	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	157.0	140.0	145.0		976	5.6	1.0	11	dbSNP_134	145	0,8598		0,0,4299	no	missense	EML3	NM_153265.2	58	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	326/897	62376231	1,13001	2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62376231C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.976G>A	11.37:g.62376231C>T	ENSP00000378254:p.Ala326Thr					EML3_ENST00000529309.1_Missense_Mutation_p.A326T|EML3_ENST00000278845.4_Missense_Mutation_p.A327T|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000531557.1_Missense_Mutation_p.A109T	p.A326T	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			8	1283	-			326					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.976G>A	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.586654|4.586654	0.86851|0.86851	2.27E-4|2.27E-4	0.0|0.0	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.33438|.	1.5;1.46;1.41;1.47;1.41|.	5.55|5.55	5.55|5.55	0.83447|0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73892|0.73892	0.3645|0.3645	M|M	0.67700|0.67700	2.07|2.07	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;D;D|.	0.89917|.	1.0;1.0;0.936;0.997;0.997|.	D;D;P;D;D|.	0.91635|.	0.999;0.999;0.535;0.989;0.942|.	T|T	0.72377|0.72377	-0.4312|-0.4312	10|5	0.66056|.	D|.	0.02|.	-7.5773|-7.5773	17.0083|17.0083	0.86399|0.86399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326;326;109;327;298|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	T|N	326;327;109;298;326|320	ENSP00000378254:A326T;ENSP00000278845:A327T;ENSP00000433417:A109T;ENSP00000435064:A298T;ENSP00000434513:A326T|.	ENSP00000278845:A327T|.	A|S	-|-	1|2	0|0	EML3|EML3	62132807|62132807	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.571000|0.571000	0.35966|0.35966	5.539000|5.539000	0.67199|0.67199	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.527	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		82	427	0	0	0	1	0	82	427				
ANKRD20A5P	440482	broad.mit.edu	37	18	14179501	14179501	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14179501G>A	ENST00000581935.1	+	0	406							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						AACTGCAGAAGATCCACAAGG	0.637																																						ENST00000581935.1																			0				lung(3)	3															14.0	16.0	16.0					18																	14179501		2191	4248	6439			0							g.chr18:14179501G>A	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14179501G>A														0	406	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.637	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			30	115	0	0	0	1	0	30	115				
CACNA1B	774	broad.mit.edu	37	9	141012423	141012423	+	Nonsense_Mutation	SNP	G	G	T	rs377467706		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141012423G>T	ENST00000371372.1	+	43	5948	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.E1129*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1935					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCATCAAAGAGTCTGTCTC	0.572																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3385-3387)Gag>Tag		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						25.0	28.0	27.0					9																	141012423		1911	4131	6042	SO:0001587	stop_gained	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141012423G>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5803G>T	9.37:g.141012423G>T	ENSP00000360423:p.Glu1935*					CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*	p.E1129*			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	43	5954	+	all_cancers(76;0.166)		1935					B1AQK5	Nonsense_Mutation	SNP	ENST00000371372.1	37	c.3385G>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	56	26.658571	0.99969	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	3.94	3.94	0.45596	.	25.295300	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.9521	0.64123	0.0:0.0:1.0:0.0	.	.	.	.	X	1935;1935;1129;1933;1934;1936	.	ENSP00000277549:E1129X	E	+	1	0	CACNA1B	140132244	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.342000	0.65970	2.036000	0.60181	0.561000	0.74099	GAG		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	62	1	0	0.000274275	1	0.000278163	9	62				
SYNPO	11346	broad.mit.edu	37	5	150027836	150027836	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027836G>T	ENST00000394243.1	+	3	1105	c.731G>T	c.(730-732)aGc>aTc	p.S244I	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	244					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGCCACAGCATGGAGGGG	0.637																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(730-732)aGc>aTc		synaptopodin							41.0	48.0	46.0					5																	150027836		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150027836G>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.731G>T	5.37:g.150027836G>T	ENSP00000377789:p.Ser244Ile					SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR	p.S244I	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1105	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	244					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.731G>T	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105396	0.37145	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.25085	1.82;1.82	5.28	3.41	0.39046	.	0.143250	0.32785	N	0.005657	T	0.13114	0.0318	N	0.17082	0.46	0.80722	D	1	B	0.14012	0.009	B	0.14578	0.011	T	0.09422	-1.0675	10	0.29301	T	0.29	-9.2011	5.4992	0.16819	0.1582:0.0:0.6693:0.1725	.	244	Q8N3V7	SYNPO_HUMAN	I	244	ENSP00000377789:S244I;ENSP00000428378:S244I	ENSP00000377789:S244I	S	+	2	0	SYNPO	150008029	0.047000	0.20315	0.998000	0.56505	0.957000	0.61999	2.160000	0.42348	1.164000	0.42652	0.561000	0.74099	AGC		0.637	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		7	204	1	0	0.00198382	1	0.00200138	7	204				
GATA2	2624	broad.mit.edu	37	3	128204709	128204709	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128204709G>A	ENST00000341105.2	-	3	1063	c.732C>T	c.(730-732)caC>caT	p.H244H	GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	244					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGGGGATGGGGTGGTGTGTAG	0.642			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(730-732)caC>caT		GATA binding protein 2							113.0	107.0	109.0					3																	128204709		2203	4300	6503	SO:0001819	synonymous_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128204709G>A	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.732C>T	3.37:g.128204709G>A						GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	p.H244H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	3	1063	-			244					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.732C>T	CCDS3049.1																																																																																				0.642	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		17	226	0	0	0	1	0	17	226				
RGL2	5863	broad.mit.edu	37	6	33259941	33259941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33259941C>A	ENST00000497454.1	-	18	2767	c.2272G>T	c.(2272-2274)Gga>Tga	p.G758*	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank|WDR46_ENST00000374617.4_5'Flank	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	758					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GAGCCCCCTCCTCCCTCACTC	0.602																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(2272-2274)Gga>Tga		ral guanine nucleotide dissociation stimulator-like 2							65.0	62.0	63.0					6																	33259941		2203	4300	6503	SO:0001587	stop_gained	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33259941C>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2272G>T	6.37:g.33259941C>A	ENSP00000420211:p.Gly758*					PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	p.G758*	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			18	2767	-			758					B4DG72|Q5STK0|Q9Y3F3	Nonsense_Mutation	SNP	ENST00000497454.1	37	c.2272G>T	CCDS4774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.777970|9.777970	0.99261|0.99261	.|.	.|.	ENSG00000237441|ENSG00000237441	ENST00000421215|ENST00000497454	.|.	.|.	.|.	5.64|5.64	3.85|3.85	0.44370|0.44370	.|.	.|0.307620	.|0.31020	.|N	.|0.008409	T|.	0.33147|.	0.0853|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12785|.	-1.0534|.	5|.	0.52906|0.18276	T|T	0.07|0.48	.|.	8.0045|8.0045	0.30317|0.30317	0.0:0.7551:0.1598:0.0851|0.0:0.7551:0.1598:0.0851	.|.	.|.	.|.	.|.	D|X	620|758	.|.	ENSP00000400083:E620D|ENSP00000420211:G758X	E|G	-|-	3|1	2|0	RGL2|RGL2	33367919|33367919	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	0.970000|0.970000	0.29383|0.29383	0.730000|0.730000	0.32425|0.32425	0.643000|0.643000	0.83706|0.83706	GAG|GGA		0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			13	349	1	0	7.03913e-09	1	7.37812e-09	13	349				
KRT17	3872	broad.mit.edu	37	17	39777943	39777943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777943C>A	ENST00000311208.8	-	4	803	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	JUP_ENST00000540235.1_Missense_Mutation_p.G405C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	246	Linker 12.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGTCCACGCCTGGGGCAGCG	0.567																																					Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1213-1215)Ggc>Tgc		junction plakoglobin							126.0	102.0	110.0					17																	39777943		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39777943C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.736G>T	17.37:g.39777943C>A	ENSP00000308452:p.Gly246Cys					KRT17_ENST00000311208.8_Missense_Mutation_p.G246C	p.G405C			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	7	1212	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1213G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425396	0.43020	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	T;T	0.77358	-1.09;-1.09	3.97	3.97	0.46021	Prefoldin (1);Filament (1);	0.000000	0.48286	D	0.000199	D	0.91556	0.7333	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85779	0.1360	10	0.87932	D	0	.	16.6211	0.84930	0.0:1.0:0.0:0.0	.	246	Q04695	K1C17_HUMAN	C	246;405	ENSP00000308452:G246C;ENSP00000441751:G405C	ENSP00000441751:G405C	G	-	1	0	JUP;KRT17	37031469	0.014000	0.17966	0.702000	0.30337	0.417000	0.31264	1.905000	0.39878	2.214000	0.71695	0.655000	0.94253	GGC		0.567	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		22	531	1	0	1.22574e-08	1	1.28258e-08	22	531				
LRRC42	115353	broad.mit.edu	37	1	54426034	54426034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54426034C>T	ENST00000371370.3	+	5	1132	c.611C>T	c.(610-612)aCt>aTt	p.T204I	LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	204										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCTAGTGTAACTCAGCTCCAC	0.358																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(610-612)aCt>aTt		leucine rich repeat containing 42							122.0	122.0	122.0					1																	54426034		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426034C>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.611C>T	1.37:g.54426034C>T	ENSP00000360421:p.Thr204Ile					LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	p.T204I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			5	1132	+			204					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.611C>T	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560599	0.45590	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.31769	5.4;5.4;1.48	5.85	5.85	0.93711	.	0.172887	0.50627	D	0.000106	T	0.18467	0.0443	N	0.19112	0.55	0.35667	D	0.813013	P;P	0.42296	0.775;0.666	B;B	0.35655	0.207;0.102	T	0.15752	-1.0426	10	0.59425	D	0.04	-17.1487	10.0635	0.42288	0.1474:0.7809:0.0:0.0717	.	204;204	E7EP35;Q9Y546	.;LRC42_HUMAN	I	204	ENSP00000360421:T204I;ENSP00000318185:T204I;ENSP00000389368:T204I	ENSP00000318185:T204I	T	+	2	0	LRRC42	54198622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.393000	0.44442	2.941000	0.99782	0.655000	0.94253	ACT		0.358	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		16	393	0	0	0	1	0	16	393				
PPP1R3B	79660	broad.mit.edu	37	8	8998463	8998463	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8998463G>T	ENST00000310455.3	-	2	849	c.699C>A	c.(697-699)atC>atA	p.I233I	RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.I233I	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	233	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACTCAGCCCGGATGATCCTAT	0.483																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(697-699)atC>atA		protein phosphatase 1, regulatory subunit 3B							195.0	185.0	188.0					8																	8998463		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998463G>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.699C>A	8.37:g.8998463G>T						PPP1R3B_ENST00000519699.1_Silent_p.I233I	p.I233I	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	849	-			233			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.699C>A	CCDS5973.1																																																																																				0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		80	342	1	0	4.75426e-39	1	5.74315e-39	80	342				
UTP14A	10813	broad.mit.edu	37	X	129045772	129045772	+	Missense_Mutation	SNP	G	G	A	rs150155910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129045772G>A	ENST00000394422.3	+	6	440	c.412G>A	c.(412-414)Gca>Aca	p.A138T	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371042.3_5'Flank|UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	138					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAATAAAACCGCACAAGTCCT	0.498																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(412-414)Gca>Aca		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)		T	,THR/ALA	0,3835		0,0,1632,571	133.0	125.0	127.0		,412	2.9	0.5	X	dbSNP_134	127	1,6727		0,1,2427,1872	no	intron,missense	UTP14A	NM_001166221.1,NM_006649.3	,58	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,benign	,138/772	129045772	1,10562	2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129045772G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.412G>A	X.37:g.129045772G>A	ENSP00000377944:p.Ala138Thr					UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron	p.A138T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			6	440	+			138					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.412G>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304624	0.23736	0.0	1.49E-4	ENSG00000156697	ENST00000394422;ENST00000371051	T;T	0.16743	2.32;2.32	5.43	2.94	0.34122	.	0.228441	0.45361	N	0.000376	T	0.07908	0.0198	N	0.05230	-0.09	0.80722	D	1	B;B	0.14012	0.009;0.004	B;B	0.11329	0.006;0.006	T	0.22765	-1.0207	10	0.46703	T	0.11	-1.01	7.5144	0.27592	0.1322:0.0:0.2762:0.5917	.	84;138	F8WD00;Q9BVJ6	.;UT14A_HUMAN	T	138;84	ENSP00000377944:A138T;ENSP00000360090:A84T	ENSP00000360090:A84T	A	+	1	0	UTP14A	128873453	0.735000	0.28153	0.456000	0.27044	0.158000	0.22134	0.575000	0.23729	0.202000	0.20498	-0.825000	0.03093	GCA		0.498	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		184	581	0	0	0	1	0	184	581				
C21orf59	56683	broad.mit.edu	37	21	33984442	33984442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33984442G>A	ENST00000290155.3	-	1	734	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	AP000275.65_ENST00000553001.1_Missense_Mutation_p.R38W|C21orf59_ENST00000540881.1_Missense_Mutation_p.R38W|C21orf59_ENST00000382549.4_Missense_Mutation_p.R38W	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	38						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						ACCTTGAGCCGCCCATTATAG	0.682																																						ENST00000382549.4																			0				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						c.(112-114)Cgg>Tgg		chromosome 21 open reading frame 59							13.0	13.0	13.0					21																	33984442		2182	4263	6445	SO:0001583	missense	56683					cytosol|nucleus		g.chr21:33984442G>A	AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.112C>T	21.37:g.33984442G>A	ENSP00000290155:p.Arg38Trp					C21orf59_ENST00000540881.1_Missense_Mutation_p.R38W|C21orf59_ENST00000290155.3_Missense_Mutation_p.R38W|C21ORF59_ENST00000607686.1_Missense_Mutation_p.R38W	p.R38W			P57076	CU059_HUMAN			1	454	-			38					Q53FH0	Missense_Mutation	SNP	ENST00000290155.3	37	c.112C>T	CCDS13617.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963276	0.53507	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000540881;ENST00000458138	.	.	.	4.85	0.516	0.17019	.	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	M	0.92367	3.3	0.48288	D	0.999623	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.981;0.981	T	0.81106	-0.1083	9	0.87932	D	0	-34.6757	9.8627	0.41125	0.0721:0.0:0.3772:0.5507	.	38;38;38;38;38	F5GXV2;C9J818;P57076;D3DSE6;Q96NJ2	.;.;CU059_HUMAN;.;.	W	38	.	ENSP00000290155:R38W	R	-	1	2	C21orf59	32906313	0.998000	0.40836	0.997000	0.53966	0.138000	0.21146	2.204000	0.42761	0.195000	0.20347	0.455000	0.32223	CGG		0.682	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1	NM_021254		5	22	0	0	0	1	0	5	22				
KRTAP5-3	387266	broad.mit.edu	37	11	1629124	1629124	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1629124G>A	ENST00000399685.1	-	1	569	c.492C>T	c.(490-492)tgC>tgT	p.C164C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	164	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		actgggaacagcagGGCTTAC	0.622																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(490-492)tgC>tgT		keratin associated protein 5-3							141.0	149.0	146.0					11																	1629124		2202	4299	6501	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629124G>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.492C>T	11.37:g.1629124G>A							p.C164C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	569	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	164			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.492C>T	CCDS41591.1																																																																																				0.622	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			303	1381	0	0	0	1	0	303	1381				
OR5K1	26339	broad.mit.edu	37	3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A	rs372270718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19776	0.0		0.0	False		,,,				2504	0.001					ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(160-162)cGg>cAg		olfactory receptor, family 5, subfamily K, member 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	270.0	267.0	268.0		161	-8.0	0.0	3		268	0,8598		0,0,4299	no	missense	OR5K1	NM_001004736.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	54/309	98188581	1,13003	2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188581G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.161G>A	3.37:g.98188581G>A	ENSP00000373193:p.Arg54Gln						p.R54Q	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	258	+			54					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.161G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149967	0.21371	2.27E-4	0.0	ENSG00000232382	ENST00000332650	T	0.00583	6.41	5.18	-7.99	0.01131	GPCR, rhodopsin-like superfamily (1);	1.333180	0.05325	N	0.527211	T	0.00384	0.0012	N	0.25031	0.7	0.09310	N	1	B	0.25850	0.136	B	0.14023	0.01	T	0.44375	-0.9332	10	0.25751	T	0.34	1.2397	4.8465	0.13516	0.5597:0.0968:0.2457:0.0978	.	54	Q8NHB7	OR5K1_HUMAN	Q	54	ENSP00000373193:R54Q	ENSP00000373193:R54Q	R	+	2	0	OR5K1	99671271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.050000	0.01404	-1.476000	0.01874	-3.439000	0.00036	CGG		0.453	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			266	1096	0	0	0	1	0	266	1096				
LIF	3976	broad.mit.edu	37	22	30640766	30640766	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30640766G>A	ENST00000249075.3	-	2	331	c.176C>T	c.(175-177)gCc>gTc	p.A59V	RP1-102K2.8_ENST00000608354.1_RNA|LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	59					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GAGGGCATTGGCACTGCCATT	0.532																																						ENST00000249075.3																			0				breast(1)|lung(3)|skin(3)	7						c.(175-177)gCc>gTc		leukemia inhibitory factor							167.0	144.0	152.0					22																	30640766		2203	4300	6503	SO:0001583	missense	3976				immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding	g.chr22:30640766G>A		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.176C>T	22.37:g.30640766G>A	ENSP00000249075:p.Ala59Val					LIF_ENST00000403987.3_Intron	p.A59V	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	Epithelial(10;0.171)		2	331	-			59					B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	c.176C>T	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735491	0.89482	.	.	ENSG00000128342	ENST00000249075	T	0.80393	-1.37	4.56	4.56	0.56223	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.56097	D	0.000031	D	0.88760	0.6524	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90180	0.4242	10	0.87932	D	0	-38.7843	14.432	0.67257	0.0:0.0:1.0:0.0	.	59	P15018	LIF_HUMAN	V	59	ENSP00000249075:A59V	ENSP00000249075:A59V	A	-	2	0	LIF	28970766	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.574000	0.53863	2.226000	0.72624	0.563000	0.77884	GCC		0.532	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		57	224	0	0	0	1	0	57	224				
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	G	A	rs551355085	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1265997G>A	ENST00000529681.1	+	31	7945	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2632T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2608T(1)|p.T2629T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637																																						ENST00000447027.1																			2	Substitution - coding silent(2)	p.T2608T(1)|p.T2629T(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7894-7896)acG>acA		mucin 5B, oligomeric mucus/gel-forming							147.0	178.0	168.0					11																	1265997		2123	4233	6356	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265997G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7887G>A	11.37:g.1265997G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2629T	p.T2632T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7954	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2629	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.7896G>A	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		90	374	0	0	0	1	0	90	374				
UBE3C	9690	broad.mit.edu	37	7	156974923	156974923	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156974923C>A	ENST00000348165.5	+	8	1252	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	298					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGAGCCCTTTCTGAATGCACT	0.438																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(892-894)Ctg>Atg		ubiquitin protein ligase E3C							102.0	101.0	101.0					7																	156974923		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156974923C>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.892C>A	7.37:g.156974923C>A	ENSP00000309198:p.Leu298Met					UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	p.L298M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	8	1252	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	298					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.892C>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259424	0.59321	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.55588	0.51	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.998;0.999	T	0.69105	-0.5233	10	0.33940	T	0.23	.	18.4758	0.90792	0.0:1.0:0.0:0.0	.	298;298;255	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	M	298;255	ENSP00000309198:L298M	ENSP00000309198:L298M	L	+	1	2	UBE3C	156667684	1.000000	0.71417	0.705000	0.30386	0.062000	0.15995	7.455000	0.80726	2.366000	0.80165	0.455000	0.32223	CTG		0.438	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		96	481	1	0	1.45855e-51	1	1.81083e-51	96	481				
LRRK2	120892	broad.mit.edu	37	12	40693003	40693003	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40693003A>G	ENST00000298910.7	+	25	3498	c.3440A>G	c.(3439-3441)aAc>aGc	p.N1147S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1147					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTATCAGAGAACTTTCTTGAG	0.418																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3439-3441)aAc>aGc		leucine-rich repeat kinase 2							179.0	193.0	188.0					12																	40693003		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40693003A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3440A>G	12.37:g.40693003A>G	ENSP00000298910:p.Asn1147Ser					LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	p.N1147S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			25	3498	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1147					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3440A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523245	0.44866	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71341	2.3;-0.56	5.29	4.15	0.48705	.	0.429907	0.26297	N	0.025193	T	0.58977	0.2160	L	0.43152	1.355	0.29182	N	0.876412	B;B	0.24675	0.006;0.109	B;B	0.27170	0.008;0.077	T	0.48293	-0.9048	10	0.09338	T	0.73	.	10.7437	0.46168	0.9253:0.0:0.0747:0.0	.	1147;1147	E9PC85;Q5S007	.;LRRK2_HUMAN	S	1147	ENSP00000341930:N1147S;ENSP00000298910:N1147S	ENSP00000298910:N1147S	N	+	2	0	LRRK2	38979270	1.000000	0.71417	0.637000	0.29366	0.990000	0.78478	5.691000	0.68249	0.846000	0.35142	0.402000	0.26972	AAC		0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		151	618	0	0	0	1	0	151	618				
SLC6A18	348932	broad.mit.edu	37	5	1240706	1240706	+	Silent	SNP	C	C	T	rs149285920	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1240706C>T	ENST00000324642.3	+	7	1029	c.906C>T	c.(904-906)taC>taT	p.Y302Y	SLC6A18_ENST00000296821.4_Silent_p.Y297Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	302					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCCCTGTACGCGTCCATCG	0.592																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(904-906)taC>taT		solute carrier family 6 (neutral amino acid transporter), member 18		C		1,4405	2.1+/-5.4	0,1,2202	203.0	145.0	165.0		906	-5.2	0.2	5	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous	SLC6A18	NM_182632.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		302/629	1240706	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1240706C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.906C>T	5.37:g.1240706C>T						SLC6A18_ENST00000296821.4_Silent_p.Y297Y	p.Y302Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	1029	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		302						Silent	SNP	ENST00000324642.3	37	c.906C>T	CCDS3860.1																																																																																				0.592	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		87	287	0	0	0	1	0	87	287				
PTCH2	8643	broad.mit.edu	37	1	45293758	45293758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45293758G>T	ENST00000372192.3	-	14	1945	c.1815C>A	c.(1813-1815)caC>caA	p.H605Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.H605Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	605					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCTTCACAGTGGGTAAAGG	0.622									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1813-1815)caC>caA		patched 2							84.0	92.0	89.0					1																	45293758		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293758G>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1815C>A	1.37:g.45293758G>T	ENSP00000361266:p.His605Gln					PTCH2_ENST00000372192.3_Missense_Mutation_p.H605Q	p.H605Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			14	1826	-	Acute lymphoblastic leukemia(166;0.155)		605					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1815C>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	8.907	0.957861	0.18507	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91843	-2.92;-2.92	4.76	-0.0199	0.13958	.	0.282191	0.25587	N	0.029644	T	0.72581	0.3478	N	0.02368	-0.58	0.33946	D	0.643859	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.004	T	0.61936	-0.6960	10	0.15499	T	0.54	-32.9926	3.0358	0.06122	0.0915:0.3089:0.3805:0.219	.	605;605	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	605	ENSP00000389703:H605Q;ENSP00000361266:H605Q	ENSP00000361266:H605Q	H	-	3	2	PTCH2	45066345	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	1.811000	0.38942	0.402000	0.25451	0.557000	0.71058	CAC		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		49	455	1	0	3.86236e-30	1	4.52529e-30	49	455				
DIDO1	11083	broad.mit.edu	37	20	61513636	61513636	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513636G>A	ENST00000266070.4	-	16	3997	c.3672C>T	c.(3670-3672)gaC>gaT	p.D1224D	DIDO1_ENST00000395343.1_Silent_p.D1224D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1224					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCCGGAACGTCCGCTTCTT	0.532																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3670-3672)gaC>gaT		death inducer-obliterator 1							91.0	100.0	97.0					20																	61513636		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513636G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3672C>T	20.37:g.61513636G>A						DIDO1_ENST00000395343.1_Silent_p.D1224D	p.D1224D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	3997	-	Breast(26;5.68e-08)		1224					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.3672C>T	CCDS33506.1																																																																																				0.532	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		169	652	0	0	0	1	0	169	652				
CCDC13	152206	broad.mit.edu	37	3	42781273	42781273	+	Silent	SNP	C	C	T	rs555512201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42781273C>T	ENST00000310232.6	-	9	1100	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	339										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CAAGCTCTCTCTGGAGGACAT	0.532																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1015-1017)caG>caA		coiled-coil domain containing 13							149.0	129.0	136.0					3																	42781273		2203	4300	6503	SO:0001819	synonymous_variant	152206							g.chr3:42781273C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1017G>A	3.37:g.42781273C>T						CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	p.Q339Q	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			9	1100	-			339						Silent	SNP	ENST00000310232.6	37	c.1017G>A	CCDS2705.1																																																																																				0.532	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		79	371	0	0	0	1	0	79	371				
PKD1L2	114780	broad.mit.edu	37	16	81181859	81181859	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81181859A>C	ENST00000525539.1	-	0	4856				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						CGACCCGGGGACGGGTGTTCT	0.572																																						ENST00000525539.1																			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							54.0	55.0	54.0					16																	81181859		1873	4111	5984			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181859A>C	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.81181859A>C						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4856	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.572	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			54	252	0	0	0	1	0	54	252				
TAS2R41	259287	broad.mit.edu	37	7	143175313	143175313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175313C>T	ENST00000408916.1	+	1	348	c.348C>T	c.(346-348)caC>caT	p.H116H	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	116					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ACATCACACACTCCACCTTCC	0.517																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(346-348)caC>caT		taste receptor, type 2, member 41							78.0	77.0	77.0					7																	143175313		2001	4174	6175	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175313C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.348C>T	7.37:g.143175313C>T						EPHA1-AS1_ENST00000429289.1_RNA	p.H116H	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	348	+	Melanoma(164;0.15)		116					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.348C>T	CCDS43663.1																																																																																				0.517	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			20	272	0	0	0	1	0	20	272				
CREBBP	1387	broad.mit.edu	37	16	3807335	3807335	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3807335G>T	ENST00000262367.5	-	19	4461	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1218	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGGTACACAGCTGCTTCCCA	0.413			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3652-3654)Ctg>Atg		CREB binding protein							68.0	59.0	62.0					16																	3807335		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3807335G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3652C>A	16.37:g.3807335G>T	ENSP00000262367:p.Leu1218Met					CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	p.L1218M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	19	4461	-		Ovarian(90;0.0266)	1218			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3652C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328756	0.41197	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.85013	-1.93;-1.86	6.04	5.0	0.66597	Domain of unknown function DUF902, CREBbp (1);	0.000000	0.64402	D	0.000017	D	0.89649	0.6776	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88591	0.3143	10	0.36615	T	0.2	-20.96	14.8977	0.70656	0.073:0.0:0.927:0.0	.	1248;1218	Q4LE28;Q92793	.;CBP_HUMAN	M	1218;1248;1180	ENSP00000262367:L1218M;ENSP00000371502:L1180M	ENSP00000262367:L1218M	L	-	1	2	CREBBP	3747336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.291000	0.51764	1.405000	0.46838	0.563000	0.77884	CTG		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		19	85	1	0	1.96292e-10	1	2.08093e-10	19	85				
POLE	5426	broad.mit.edu	37	12	133244944	133244944	+	Missense_Mutation	SNP	G	G	A	rs61734163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133244944G>A	ENST00000320574.5	-	19	2214	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	POLE_ENST00000535270.1_Missense_Mutation_p.A697V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	724					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCACTCACCCGCCAGCCTTCT	0.602								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2170-2172)gCg>gTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit		G	VAL/ALA	0,4406		0,0,2203	112.0	106.0	108.0		2171	5.8	1.0	12	dbSNP_129	108	7,8593	5.7+/-21.5	0,7,4293	yes	missense	POLE	NM_006231.2	64	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	724/2287	133244944	7,12999	2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133244944G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2171C>T	12.37:g.133244944G>A	ENSP00000322570:p.Ala724Val					POLE_ENST00000535270.1_Missense_Mutation_p.A697V	p.A724V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2214	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	724					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.2171C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075948	0.76415	0.0	8.14E-4	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.79	5.79	0.91817	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.101295	0.64402	D	0.000002	T	0.26774	0.0655	L	0.55990	1.75	0.47094	D	0.999313	P;P	0.37688	0.605;0.478	B;B	0.36666	0.147;0.23	T	0.01532	-1.1331	10	0.49607	T	0.09	.	20.212	0.98289	0.0:0.0:1.0:0.0	.	697;724	F5H1D6;Q07864	.;DPOE1_HUMAN	V	724;735;697;504;659	ENSP00000322570:A724V;ENSP00000406383:A735V;ENSP00000445753:A697V;ENSP00000442519:A504V	ENSP00000322570:A724V	A	-	2	0	POLE	131755017	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.538000	0.82048	2.780000	0.95670	0.545000	0.68477	GCG		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		29	713	0	0	0	1	0	29	713				
C17orf97	400566	broad.mit.edu	37	17	263016	263016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263016C>T	ENST00000360127.6	+	2	398	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	128										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTGCAAAGAGCGTGGCCCGAA	0.507																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(382-384)Cgt>Tgt		chromosome 17 open reading frame 97							128.0	116.0	120.0					17																	263016		2203	4300	6503	SO:0001583	missense	400566							g.chr17:263016C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.382C>T	17.37:g.263016C>T	ENSP00000353245:p.Arg128Cys					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.R128C	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	398	+			128					A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.382C>T	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986742	0.35036	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.48836	1.38;0.8	5.02	4.04	0.47022	.	0.931283	0.08893	N	0.878365	T	0.44477	0.1295	N	0.14661	0.345	0.39043	D	0.960165	D	0.67145	0.996	P	0.55965	0.788	T	0.41945	-0.9480	10	0.66056	D	0.02	-21.7712	8.414	0.32659	0.0:0.8979:0.0:0.1021	.	128	Q6ZQX7-4	.	C	128;122	ENSP00000353245:R128C;ENSP00000419482:R122C	ENSP00000353245:R128C	R	+	1	0	C17orf97	263332	0.010000	0.17322	0.355000	0.25773	0.011000	0.07611	1.070000	0.30653	2.715000	0.92844	0.655000	0.94253	CGT		0.507	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		7	416	0	0	0	1	0	7	416				
LENG8	114823	broad.mit.edu	37	19	54966594	54966594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966594G>T	ENST00000326764.5	+	8	1352	c.873G>T	c.(871-873)caG>caT	p.Q291H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	254										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACTGGCCCCAGGACATGAAAG	0.632																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(871-873)caG>caT		leukocyte receptor cluster (LRC) member 8							53.0	60.0	58.0					19																	54966594		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54966594G>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.873G>T	19.37:g.54966594G>T	ENSP00000318374:p.Gln291His					LENG8_ENST00000376514.2_Intron	p.Q291H	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	8	1352	+	Ovarian(34;0.19)		254					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.873G>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001255	0.74818	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.57273	1.42;0.41;1.41;1.39	5.38	3.23	0.37069	.	0.059035	0.64402	D	0.000002	T	0.63815	0.2543	M	0.63843	1.955	0.80722	D	1	P;D	0.71674	0.925;0.998	P;D	0.69479	0.735;0.964	T	0.64711	-0.6343	10	0.59425	D	0.04	-23.4433	7.9572	0.30049	0.2569:0.0:0.7431:0.0	.	291;254	Q96PV6-2;F8W9Q9	.;.	H	291;254;291;254;291	ENSP00000318374:Q291H;ENSP00000399507:Q291H;ENSP00000365709:Q254H;ENSP00000388053:Q291H	ENSP00000301196:Q254H	Q	+	3	2	LENG8	59658406	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.724000	0.47285	1.419000	0.47118	-0.136000	0.14681	CAG		0.632	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		81	275	1	0	1.15773e-35	1	1.38295e-35	81	275				
ZADH2	284273	broad.mit.edu	37	18	72913911	72913911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72913911G>A	ENST00000322342.3	-	2	883	c.594C>T	c.(592-594)tgC>tgT	p.C198C	ZADH2_ENST00000537114.2_Silent_p.C75C	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	198						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CAATTACATGGCACTTTGCCT	0.478																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(592-594)tgC>tgT		zinc binding alcohol dehydrogenase domain containing 2							160.0	170.0	167.0					18																	72913911		2203	4300	6503	SO:0001819	synonymous_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913911G>A	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.594C>T	18.37:g.72913911G>A						ZADH2_ENST00000537114.2_Silent_p.C75C	p.C198C	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	883	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	198					A8KA15|B4DZ91	Silent	SNP	ENST00000322342.3	37	c.594C>T	CCDS12008.1																																																																																				0.478	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		136	1316	0	0	0	1	0	136	1316				
MAB21L1	4081	broad.mit.edu	37	13	36049967	36049967	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049967G>A	ENST00000379919.4	-	1	865	c.309C>T	c.(307-309)agC>agT	p.S103S	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	103					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGCGCCCGTCGCTCAACTTCA	0.592																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(307-309)agC>agT		mab-21-like 1 (C. elegans)							62.0	63.0	62.0					13																	36049967		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049967G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.309C>T	13.37:g.36049967G>A						NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.S103S	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	865	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	103					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.309C>T	CCDS9353.1																																																																																				0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		66	331	0	0	0	1	0	66	331				
SLC52A2	79581	broad.mit.edu	37	8	145584275	145584275	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584275T>C	ENST00000532887.1	+	4	1610	c.1027T>C	c.(1027-1029)Tct>Cct	p.S343P	SLC52A2_ENST00000329994.2_Missense_Mutation_p.S343P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S343P|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S343P|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S255P			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	343					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GGGCGGCCTCTCTCTGCTGGG	0.697																																						ENST00000532887.1																			0											c.(1027-1029)Tct>Cct		solute carrier family 52 (riboflavin transporter), member 2							55.0	62.0	59.0					8																	145584275		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584275T>C	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1027T>C	8.37:g.145584275T>C	ENSP00000436768:p.Ser343Pro					SLC52A2_ENST00000402965.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S343P|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S343P|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S255P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S343P	p.S343P			Q9HAB3	RFT3_HUMAN			4	1610	+			343					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.1027T>C	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178639	0.38511	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.69	2.03	0.26663	.	0.445806	0.24615	N	0.037015	T	0.78704	0.4325	M	0.75615	2.305	0.09310	N	0.999997	P	0.51933	0.949	P	0.53102	0.718	T	0.69924	-0.5013	10	0.66056	D	0.02	.	9.3756	0.38281	0.0:0.0:0.3446:0.6553	.	343	Q9HAB3	RFT3_HUMAN	P	343;343;343;343;343;255	ENSP00000435820:S343P;ENSP00000434728:S343P;ENSP00000385961:S343P;ENSP00000436768:S343P;ENSP00000333638:S343P;ENSP00000440400:S255P	ENSP00000333638:S343P	S	+	1	0	GPR172A	145555083	0.019000	0.18553	0.004000	0.12327	0.402000	0.30811	0.298000	0.19120	0.616000	0.30141	0.379000	0.24179	TCT		0.697	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		122	443	0	0	0	1	0	122	443				
RHBDL3	162494	broad.mit.edu	37	17	30643294	30643294	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30643294C>A	ENST00000269051.4	+	8	940	c.926C>A	c.(925-927)gCt>gAt	p.A309D	RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D|RHBDL3_ENST00000536287.1_Missense_Mutation_p.A211D	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	309						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGCGGATGGCTGTGGCCCTT	0.552																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(925-927)gCt>gAt		rhomboid, veinlet-like 3 (Drosophila)							149.0	149.0	149.0					17																	30643294		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30643294C>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.926C>A	17.37:g.30643294C>A	ENSP00000269051:p.Ala309Asp					RHBDL3_ENST00000536287.1_Missense_Mutation_p.A211D|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D	p.A309D	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			8	940	+		Breast(31;0.116)|Ovarian(249;0.182)	309					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.926C>A	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934735	0.73442	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.12465	2.68;2.68;2.68	5.56	4.58	0.56647	Peptidase S54, rhomboid domain (1);	0.051784	0.85682	D	0.000000	T	0.18593	0.0446	M	0.62088	1.915	0.58432	D	0.999999	P;P	0.44380	0.834;0.834	B;B	0.44085	0.44;0.44	T	0.01105	-1.1450	10	0.62326	D	0.03	.	9.8851	0.41257	0.0:0.7871:0.1404:0.0724	.	301;309	Q495Y5;P58872	.;RHBL3_HUMAN	D	309;301;211	ENSP00000269051:A309D;ENSP00000442092:A301D;ENSP00000466508:A211D	ENSP00000269051:A309D	A	+	2	0	RHBDL3	27667407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.499000	0.53310	1.324000	0.45282	0.563000	0.77884	GCT		0.552	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		218	848	1	0	5.40457e-69	1	6.85597e-69	218	848				
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A	rs374055663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	134					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478																																						ENST00000359801.3																			2	Substitution - Missense(2)	p.S240L(1)|p.S141L(1)	large_intestine(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(421-423)tCg>tTg		signal-regulatory protein beta 2		G	LEU/SER,	2,3134		0,2,1566	181.0	156.0	164.0		422,	-0.9	0.0	20		164	0,7164		0,0,3582	no	missense,intron	SIRPB2	NM_001122962.1,NM_001134836.1	145,	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,	141/343,	1460374	2,10298	1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460374G>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.422C>T	20.37:g.1460374G>A	ENSP00000352849:p.Ser141Leu					SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000444444.1_Intron	p.S141L	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			2	458	-			141			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.422C>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344962	0.11126	6.38E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.39406	1.08;4.32	4.03	-0.905	0.10527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.051780	0.02728	N	0.114791	T	0.17152	0.0412	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11485	T	0.65	-16.8466	7.1865	0.25803	0.55:0.0:0.45:0.0	.	3;141	F5H204;Q5JXA9	.;SIRB2_HUMAN	L	141;3	ENSP00000352849:S141L;ENSP00000445632:S3L	ENSP00000352849:S141L	S	-	2	0	SIRPB2	1408374	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.125000	0.31332	-0.048000	0.13401	-0.140000	0.14226	TCG		0.478	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		36	786	0	0	0	1	0	36	786				
KLK13	26085	broad.mit.edu	37	19	51563271	51563271	+	Missense_Mutation	SNP	T	T	C	rs537179612	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51563271T>C	ENST00000595793.1	-	3	361	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.I107V|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	107	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGTGGGGGATAGAGTGGACA	0.582													T|||	3	0.000599042	0.0	0.0	5008	,	,		12024	0.0		0.0	False		,,,				2504	0.0031					ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(319-321)Atc>Gtc		kallikrein-related peptidase 13							89.0	88.0	88.0					19																	51563271		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563271T>C		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.319A>G	19.37:g.51563271T>C	ENSP00000470555:p.Ile107Val					KLK13_ENST00000596955.1_Missense_Mutation_p.I107V|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron	p.I107V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	3	361	-		all_neural(266;0.026)	107			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.319A>G	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	T	0.354	-0.942973	0.02322	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.76	0.519	0.17035	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.285942	0.25006	N	0.033862	T	0.40094	0.1103	L	0.34521	1.04	0.37140	D	0.901665	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.008	T	0.21655	-1.0239	9	0.49607	T	0.09	.	5.6968	0.17861	0.0:0.3757:0.0:0.6243	.	107;107	B5BUM9;Q9UKR3	.;KLK13_HUMAN	V	107	.	ENSP00000156476:I107V	I	-	1	0	KLK13	56255083	0.000000	0.05858	0.741000	0.31004	0.001000	0.01503	-0.831000	0.04405	0.169000	0.19679	-0.280000	0.10049	ATC		0.582	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		65	384	0	0	0	1	0	65	384				
TDP2	51567	broad.mit.edu	37	6	24651141	24651141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24651141C>T	ENST00000378198.4	-	7	1134	c.964G>A	c.(964-966)Gca>Aca	p.A322T	TDP2_ENST00000545995.1_Missense_Mutation_p.A352T|TDP2_ENST00000341060.3_Missense_Mutation_p.A264T			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	322					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTGCTGCTGCTCTGAAAAAT	0.403								Direct reversal of damage																														ENST00000341060.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(790-792)Gca>Aca	Direct reversal of damage	tyrosyl-DNA phosphodiesterase 2							94.0	91.0	92.0					6																	24651141		2203	4300	6503	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24651141C>T	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.964G>A	6.37:g.24651141C>T	ENSP00000367440:p.Ala322Thr					TDP2_ENST00000545995.1_Missense_Mutation_p.A352T|TDP2_ENST00000378198.4_Missense_Mutation_p.A322T	p.A264T			O95551	TYDP2_HUMAN			6	1185	-			322					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.790G>A	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984956	0.35036	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.21734	1.99;1.99;1.99	5.46	1.1	0.20463	Endonuclease/exonuclease/phosphatase (2);	0.225345	0.46758	N	0.000261	T	0.03959	0.0111	L	0.33485	1.01	0.30381	N	0.781984	B	0.14805	0.011	B	0.17433	0.018	T	0.44034	-0.9354	10	0.15066	T	0.55	-24.3697	6.417	0.21721	0.093:0.6123:0.1402:0.1545	.	322	O95551	TYDP2_HUMAN	T	322;352;244;264	ENSP00000367440:A322T;ENSP00000437637:A352T;ENSP00000345345:A264T	ENSP00000345345:A264T	A	-	1	0	TDP2	24759120	0.997000	0.39634	0.997000	0.53966	0.980000	0.70556	1.004000	0.29822	0.222000	0.20900	-0.140000	0.14226	GCA		0.403	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			55	211	0	0	0	1	0	55	211				
TBX20	57057	broad.mit.edu	37	7	35284653	35284653	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35284653C>A	ENST00000408931.3	-	4	1088	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	188					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAAGGAGAATCTGGATGCACA	0.368																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(562-564)Gat>Tat		T-box 20							113.0	97.0	102.0					7																	35284653		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35284653C>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.562G>T	7.37:g.35284653C>A	ENSP00000386170:p.Asp188Tyr						p.D188Y	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			4	1088	-			188					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.562G>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924360	0.52653	.	.	ENSG00000164532	ENST00000408931	D	0.91521	-2.86	5.19	5.19	0.71726	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	.	18.7096	0.91651	0.0:1.0:0.0:0.0	.	188	Q9UMR3	TBX20_HUMAN	Y	188	ENSP00000386170:D188Y	ENSP00000386170:D188Y	D	-	1	0	TBX20	35251178	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	7.818000	0.86416	2.427000	0.82271	0.491000	0.48974	GAT		0.368	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		23	97	1	0	5.35356e-11	1	5.69577e-11	23	97				
LINC01566	283914	broad.mit.edu	37	16	34624243	34624243	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:34624243G>A	ENST00000569242.1	+	0	2089					NR_027079.1																						GTCACATTTAGTTTGCAGCTG	0.393																																						ENST00000569242.1																			0																																																			0							g.chr16:34624243G>A																													16.37:g.34624243G>A								NR_027079.1						0	2089	+									RNA	SNP	ENST00000569242.1	37																																																																																						0.393	RP11-488I20.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431678.1			12	38	0	0	0	1	0	12	38				
PHC2	1912	broad.mit.edu	37	1	33797020	33797020	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33797020G>T	ENST00000257118.5	-	11	1985	c.1932C>A	c.(1930-1932)ctC>ctA	p.L644L	MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000431992.1_Silent_p.L615L|PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Silent_p.L645L|PHC2_ENST00000373422.3_Silent_p.L250L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	644					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCGGCCACAGAGCTCACACT	0.527																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1930-1932)ctC>ctA		polyhomeotic homolog 2 (Drosophila)							126.0	137.0	133.0					1																	33797020		2203	4300	6503	SO:0001819	synonymous_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33797020G>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1932C>A	1.37:g.33797020G>T						PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000419414.2_Silent_p.L645L|PHC2_ENST00000373422.3_Silent_p.L250L|PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.L615L	p.L644L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			11	1985	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	644					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	c.1932C>A	CCDS378.1																																																																																				0.527	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		62	573	1	0	2.54232e-27	1	2.94239e-27	62	573				
CDCP1	64866	broad.mit.edu	37	3	45160072	45160072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45160072C>T	ENST00000296129.1	-	2	258	c.124G>A	c.(124-126)Gtt>Att	p.V42I	CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	42						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTTATGAGAACTGTAATGTTG	0.438																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(124-126)Gtt>Att		CUB domain containing protein 1							93.0	93.0	93.0					3																	45160072		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45160072C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.124G>A	3.37:g.45160072C>T	ENSP00000296129:p.Val42Ile					CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I|CDCP1_ENST00000490471.1_5'UTR	p.V42I	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	258	-			42					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.124G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635392	0.29068	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.53857	1.83;0.6	5.33	-1.17	0.09648	.	0.485400	0.22915	N	0.054087	T	0.32852	0.0843	L	0.41824	1.3	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.14578	0.007;0.011	T	0.30268	-0.9984	10	0.07813	T	0.8	-4.6003	7.1109	0.25390	0.0:0.3763:0.1189:0.5048	.	42;42	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	I	42	ENSP00000296129:V42I;ENSP00000399342:V42I	ENSP00000296129:V42I	V	-	1	0	CDCP1	45135076	0.000000	0.05858	0.000000	0.03702	0.607000	0.37147	-0.837000	0.04377	-0.434000	0.07275	0.561000	0.74099	GTT		0.438	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		63	322	0	0	0	1	0	63	322				
TRIB2	28951	broad.mit.edu	37	2	12880819	12880819	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:12880819G>A	ENST00000155926.4	+	3	2350	c.931G>A	c.(931-933)Gat>Aat	p.D311N	TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTTCTACAGATTTTAGCGT	0.527																																						ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(931-933)Gat>Aat		tribbles pseudokinase 2							68.0	67.0	67.0					2																	12880819		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880819G>A	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.931G>A	2.37:g.12880819G>A	ENSP00000155926:p.Asp311Asn					TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	p.D311N	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			3	2350	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		311						Missense_Mutation	SNP	ENST00000155926.4	37	c.931G>A	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312466	0.40895	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.48836	0.82;0.8	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.212067	0.49916	D	0.000128	T	0.33847	0.0877	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.07290	-1.0780	10	0.27785	T	0.31	-21.7034	19.354	0.94404	0.0:0.0:1.0:0.0	.	311	Q92519	TRIB2_HUMAN	N	311;175	ENSP00000155926:D311N;ENSP00000370874:D175N	ENSP00000155926:D311N	D	+	1	0	TRIB2	12798270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.573000	0.82421	2.820000	0.97059	0.650000	0.86243	GAT		0.527	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		87	219	0	0	0	1	0	87	219				
OR4C11	219429	broad.mit.edu	37	11	55371419	55371419	+	Missense_Mutation	SNP	A	A	C	rs555433759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371419A>C	ENST00000302231.4	-	1	455	c.431T>G	c.(430-432)gTt>gGt	p.V144G		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCAGGCAAGAACAATCAGGAT	0.453																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(430-432)gTt>gGt		olfactory receptor, family 4, subfamily C, member 11							81.0	69.0	73.0					11																	55371419		2176	4009	6185	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371419A>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.431T>G	11.37:g.55371419A>C	ENSP00000306651:p.Val144Gly						p.V144G	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	455	-			144					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.431T>G	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	0.054	-1.240870	0.01493	.	.	ENSG00000172188	ENST00000302231	T	0.38240	1.15	4.34	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	1.188180	0.06487	U	0.733841	T	0.25606	0.0623	N	0.11789	0.175	0.09310	N	1	B	0.33171	0.4	B	0.43018	0.405	T	0.40776	-0.9545	10	0.18710	T	0.47	.	4.2955	0.10899	0.6869:0.2051:0.108:0.0	.	144	Q6IEV9	OR4CB_HUMAN	G	144	ENSP00000306651:V144G	ENSP00000306651:V144G	V	-	2	0	OR4C11	55127995	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.138000	0.03216	0.292000	0.22492	0.391000	0.25812	GTT		0.453	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		16	406	0	0	0	1	0	16	406				
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9639635C>T	ENST00000535489.1	-	6	1422	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF426_ENST00000253115.2_Silent_p.K362K|ZNF426_ENST00000593003.1_Silent_p.K324K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(970-972)aaG>aaA		zinc finger protein 426							92.0	92.0	92.0					19																	9639635		2203	4300	6503	SO:0001819	synonymous_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639635C>T	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1086G>A	19.37:g.9639635C>T						ZNF426_ENST00000535489.1_Silent_p.K362K|ZNF426_ENST00000253115.2_Silent_p.K362K	p.K324K			Q9BUY5	ZN426_HUMAN			6	1449	-			362					B3KTL2	Silent	SNP	ENST00000535489.1	37	c.972G>A	CCDS12215.1																																																																																				0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		66	254	0	0	0	1	0	66	254				
FTSJ1	24140	broad.mit.edu	37	X	48340860	48340860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48340860G>T	ENST00000348411.2	+	10	1048	c.725G>T	c.(724-726)aGc>aTc	p.S242I	FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I|FTSJ1_ENST00000019019.2_Missense_Mutation_p.S240I|FTSJ1_ENST00000496365.1_3'UTR	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGGGACCTGAGCTCCTATGAT	0.562																																						ENST00000019019.2																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(718-720)aGc>aTc		FtsJ RNA methyltransferase homolog 1 (E. coli)							134.0	89.0	104.0					X																	48340860		2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48340860G>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.725G>T	X.37:g.48340860G>T	ENSP00000326948:p.Ser242Ile					FTSJ1_ENST00000348411.2_Missense_Mutation_p.S242I|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I	p.S240I	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN			11	1148	+			242						Missense_Mutation	SNP	ENST00000348411.2	37	c.719G>T	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419145	0.62622	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000396894;ENST00000456787	T;T;T	0.50813	0.73;0.73;0.73	5.37	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.90759	3.145	0.45930	D	0.998761	D;D;D;P	0.67145	0.996;0.968;0.981;0.672	D;P;D;B	0.66351	0.943;0.753;0.914;0.313	T	0.69942	-0.5008	10	0.72032	D	0.01	-20.688	7.8376	0.29378	0.1976:0.0:0.8024:0.0	.	105;242;240;240	B7Z4K4;Q9UET6;Q9UET6-2;B3KN91	.;RRMJ1_HUMAN;.;.	I	240;242;105;240	ENSP00000019019:S240I;ENSP00000326948:S242I;ENSP00000415457:S240I	ENSP00000019019:S240I	S	+	2	0	FTSJ1	48225804	1.000000	0.71417	0.469000	0.27204	0.599000	0.36880	8.320000	0.89995	0.583000	0.29574	0.507000	0.49892	AGC		0.562	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			40	116	1	0	1.04594e-18	1	1.16214e-18	40	116				
CACNA2D3	55799	broad.mit.edu	37	3	55107828	55107828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55107828G>A	ENST00000474759.1	+	37	3173	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1042						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AAGTGTGAACGTCTAAAGGCC	0.423																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(3124-3126)cGt>cAt		calcium channel, voltage-dependent, alpha 2/delta subunit 3							87.0	86.0	86.0					3																	55107828		1901	4127	6028	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55107828G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3125G>A	3.37:g.55107828G>A	ENSP00000419101:p.Arg1042His					CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H	p.R1042H	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	37	3173	+			1042					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.3125G>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190546	0.94923	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.66378	2.025	0.48236	D	0.999618	D	0.89917	1.0	D	0.91635	0.999	D	0.87183	0.2229	10	0.27082	T	0.32	.	18.0391	0.89314	0.0:0.0:1.0:0.0	.	1042	Q8IZS8	CA2D3_HUMAN	H	1042;1042;1042;948;949	ENSP00000389506:R1042H;ENSP00000419101:R1042H;ENSP00000288197:R1042H;ENSP00000417279:R948H	ENSP00000288197:R1042H	R	+	2	0	CACNA2D3	55082868	1.000000	0.71417	0.942000	0.38095	0.989000	0.77384	9.444000	0.97578	2.694000	0.91930	0.637000	0.83480	CGT		0.423	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			26	106	0	0	0	1	0	26	106				
GFAP	2670	broad.mit.edu	37	17	42992761	42992761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42992761C>T	ENST00000253408.5	-	1	159	c.94G>A	c.(94-96)Ggt>Agt	p.G32S	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.G32S|GFAP_ENST00000435360.2_Missense_Mutation_p.G32S	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	32	Head.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCAGGACCCAGACGGCGG	0.672																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(94-96)Ggt>Agt		glial fibrillary acidic protein							15.0	20.0	19.0					17																	42992761		2201	4298	6499	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992761C>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.94G>A	17.37:g.42992761C>T	ENSP00000253408:p.Gly32Ser					GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.G32S|GFAP_ENST00000435360.2_Missense_Mutation_p.G32S	p.G32S	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			1	159	-		Prostate(33;0.0959)	32			Head.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.94G>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439931	0.43326	.	.	ENSG00000131095	ENST00000253408;ENST00000435360;ENST00000376990	D;D;T	0.86030	-2.06;-2.01;-1.42	4.82	3.85	0.44370	.	0.358527	0.29565	N	0.011784	T	0.72622	0.3483	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.13594	0.008;0.001	B;B	0.12837	0.008;0.001	T	0.61143	-0.7122	10	0.38643	T	0.18	.	8.3497	0.32295	0.0:0.758:0.1563:0.0857	.	32;32	E9PAX3;P14136	.;GFAP_HUMAN	S	32	ENSP00000253408:G32S;ENSP00000403962:G32S;ENSP00000366189:G32S	ENSP00000253408:G32S	G	-	1	0	GFAP	40348287	0.002000	0.14202	0.072000	0.20136	0.884000	0.51177	1.437000	0.34991	1.401000	0.46761	0.561000	0.74099	GGT		0.672	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		21	145	0	0	0	1	0	21	145				
TNFRSF8	943	broad.mit.edu	37	1	12186098	12186098	+	Missense_Mutation	SNP	G	G	A	rs548102737	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12186098G>A	ENST00000263932.2	+	11	1466	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R304Q|TNFRSF8_ENST00000479933.2_3'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	415					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TGCAGGAAGCGAATTCGGCAG	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		17658	0.0		0.0	False		,,,				2504	0.002					ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(1243-1245)cGa>cAa		tumor necrosis factor receptor superfamily, member 8							129.0	120.0	123.0					1																	12186098		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12186098G>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1244G>A	1.37:g.12186098G>A	ENSP00000263932:p.Arg415Gln					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R304Q|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR	p.R415Q	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	11	1466	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	415					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.1244G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470834	0.26423	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.09255	3.0;3.0	4.33	2.45	0.29901	.	55.233600	0.00166	N	0.000000	T	0.12050	0.0293	L	0.50333	1.59	0.24342	N	0.994955	B;B	0.29508	0.013;0.246	B;B	0.12837	0.002;0.008	T	0.26608	-1.0098	10	0.38643	T	0.18	-7.3849	6.8545	0.24032	0.2129:0.0:0.7871:0.0	.	304;415	D3YTD8;P28908	.;TNR8_HUMAN	Q	415;304	ENSP00000263932:R415Q;ENSP00000390650:R304Q	ENSP00000263932:R415Q	R	+	2	0	TNFRSF8	12108685	0.997000	0.39634	0.289000	0.24876	0.896000	0.52359	1.760000	0.38430	0.590000	0.29694	-0.150000	0.13652	CGA		0.627	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			9	538	0	0	0	1	0	9	538				
SIK2	23235	broad.mit.edu	37	11	111574013	111574013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111574013C>A	ENST00000304987.3	+	7	987	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	272					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAATGGATGCTCATAGAAGT	0.463																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(814-816)Ctc>Atc		salt-inducible kinase 2							117.0	103.0	108.0					11																	111574013		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111574013C>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.814C>A	11.37:g.111574013C>A	ENSP00000305976:p.Leu272Ile						p.L272I	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			7	987	+			272					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.814C>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250836	0.39797	.	.	ENSG00000170145	ENST00000304987	T	0.25250	1.81	5.57	4.65	0.58169	Protein kinase-like domain (1);	0.215894	0.42548	D	0.000682	T	0.16685	0.0401	L	0.40543	1.245	0.43091	D	0.994769	B	0.33135	0.399	B	0.25614	0.062	T	0.04427	-1.0952	10	0.22109	T	0.4	.	8.6612	0.34093	0.1483:0.7728:0.0:0.0789	.	272	Q9H0K1	SIK2_HUMAN	I	272	ENSP00000305976:L272I	ENSP00000305976:L272I	L	+	1	0	SIK2	111079223	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	1.535000	0.36061	2.627000	0.88993	0.557000	0.71058	CTC		0.463	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		61	222	1	0	1.47633e-17	1	1.63113e-17	61	222				
NPM3	10360	broad.mit.edu	37	10	103542239	103542239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103542239G>A	ENST00000370110.5	-	3	342	c.320C>T	c.(319-321)cCc>cTc	p.P107L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	107					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTCACCATGGGTTGGCAGGA	0.577																																						ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(319-321)cCc>cTc		nucleophosmin/nucleoplasmin 3							135.0	119.0	124.0					10																	103542239		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542239G>A	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.320C>T	10.37:g.103542239G>A	ENSP00000359128:p.Pro107Leu					NPM3_ENST00000474993.1_5'UTR	p.P107L	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	3	342	-		Colorectal(252;0.122)	107					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.320C>T	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633242	0.87660	.	.	ENSG00000107833	ENST00000370110	T	0.53423	0.62	5.45	5.45	0.79879	Nucleoplasmin core (2);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.39245	1.2	0.80722	D	1	P	0.34757	0.467	B	0.36719	0.231	T	0.47262	-0.9131	10	0.66056	D	0.02	-27.2961	17.4687	0.87639	0.0:0.0:1.0:0.0	.	107	O75607	NPM3_HUMAN	L	107	ENSP00000359128:P107L	ENSP00000359128:P107L	P	-	2	0	NPM3	103532229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.433000	0.90291	2.556000	0.86216	0.650000	0.86243	CCC		0.577	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		15	71	0	0	0	1	0	15	71				
SNX14	57231	broad.mit.edu	37	6	86256893	86256893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86256893G>A	ENST00000314673.3	-	12	1221	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C|SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	349	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTCATAAAACGAAATAAAAGA	0.338																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(1045-1047)Cgt>Tgt		sorting nexin 14							90.0	80.0	84.0					6																	86256893		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86256893G>A	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1045C>T	6.37:g.86256893G>A	ENSP00000313121:p.Arg349Cys					SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C|SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C	p.R349C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	12	1221	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	349			RGS.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.1045C>T	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368792	0.82463	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59	5.39	4.52	0.55395	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.096864	0.64402	D	0.000001	T	0.04907	0.0132	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;P;D;P	0.65987	0.901;0.901;0.94;0.857	T	0.37641	-0.9697	10	0.45353	T	0.12	-10.6131	13.9387	0.64041	0.0727:0.0:0.9273:0.0	.	349;305;349;297	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	C	305;349;349;297;349;276	ENSP00000257769:R305C;ENSP00000313121:R349C;ENSP00000420938:R349C;ENSP00000427380:R297C;ENSP00000358641:R349C;ENSP00000425630:R276C	ENSP00000313121:R349C	R	-	1	0	SNX14	86313612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.659000	0.83766	1.279000	0.44446	0.655000	0.94253	CGT		0.338	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		27	173	0	0	0	1	0	27	173				
DIDO1	11083	broad.mit.edu	37	20	61522306	61522306	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61522306G>A	ENST00000266070.4	-	15	3867				DIDO1_ENST00000395335.2_Missense_Mutation_p.R1183C|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000395340.1_Missense_Mutation_p.R1183C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAAGCCGGCGCTTACCTGGT	0.617																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000395335.2																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3547-3549)Cgc>Tgc		death inducer-obliterator 1							70.0	70.0	70.0					20																	61522306		2203	4300	6503	SO:0001627	intron_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61522306G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3541+5C>T	20.37:g.61522306G>A						DIDO1_ENST00000395340.1_Missense_Mutation_p.R1183C|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395343.1_Intron	p.R1183C	NM_080797.3	NP_542987.2	Q9BTC0	DIDO1_HUMAN			15	3872	-	Breast(26;5.68e-08)		0					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3547C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121127	0.37436	.	.	ENSG00000101191	ENST00000395340;ENST00000395335	T;T	0.13420	2.59;2.59	5.14	4.19	0.49359	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.80722	D	1	B	0.17465	0.022	B	0.10450	0.005	T	0.05068	-1.0908	8	0.42905	T	0.14	.	12.0542	0.53524	0.0804:0.0:0.9196:0.0	.	1183	Q9BTC0-1	.	C	1183	ENSP00000378749:R1183C;ENSP00000378744:R1183C	ENSP00000378744:R1183C	R	-	1	0	DIDO1	60992751	1.000000	0.71417	0.565000	0.28409	0.203000	0.24098	4.394000	0.59671	1.290000	0.44636	0.655000	0.94253	CGC		0.617	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		55	247	0	0	0	1	0	55	247				
MMP9	4318	broad.mit.edu	37	20	44644913	44644913	+	Missense_Mutation	SNP	G	G	A	rs200118434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44644913G>A	ENST00000372330.3	+	13	2049	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	677					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TGCCAGGACCGCTTCTACTGG	0.522																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(2029-2031)cGc>cAc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						116.0	101.0	106.0					20																	44644913		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44644913G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.2030G>A	20.37:g.44644913G>A	ENSP00000361405:p.Arg677His					RP11-465L10.10_ENST00000535913.1_RNA	p.R677H	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			13	2049	+		Myeloproliferative disorder(115;0.0122)	677			Hemopexin-like 4.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.2030G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829338	0.71258	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.03035	4.07	4.59	0.258	0.15578	Hemopexin/matrixin (2);	0.810139	0.11279	N	0.580598	T	0.03305	0.0096	L	0.35723	1.085	0.34728	D	0.729424	P	0.51147	0.942	B	0.42112	0.376	T	0.54344	-0.8308	10	0.42905	T	0.14	.	4.3195	0.11009	0.2953:0.0:0.5408:0.1639	.	677	P14780	MMP9_HUMAN	H	677;247	ENSP00000361405:R677H	ENSP00000361405:R677H	R	+	2	0	MMP9	44078320	0.859000	0.29813	0.981000	0.43875	0.972000	0.66771	1.385000	0.34408	0.535000	0.28714	0.650000	0.86243	CGC		0.522	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			18	348	0	0	0	1	0	18	348				
COL20A1	57642	broad.mit.edu	37	20	61958155	61958155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958155C>A	ENST00000358894.6	+	31	3608	c.3508C>A	c.(3508-3510)Cca>Aca	p.P1170T	COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T|COL20A1_ENST00000422202.1_Missense_Mutation_p.P1177T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1170	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGAGGACCTCCAGGGACCGT	0.622																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3529-3531)Cca>Aca		collagen, type XX, alpha 1							30.0	34.0	32.0					20																	61958155		1985	4151	6136	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61958155C>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3508C>A	20.37:g.61958155C>A	ENSP00000351767:p.Pro1170Thr					COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T|COL20A1_ENST00000358894.6_Missense_Mutation_p.P1170T|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T	p.P1177T			Q9P218	COKA1_HUMAN			30	3597	+	all_cancers(38;1.39e-10)		1170			Collagen-like 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3529C>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240504	0.22711	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.90900	-2.63;-2.63;-2.63;-2.63;-2.75;-2.75	3.92	1.93	0.25924	.	0.239997	0.32416	U	0.006123	D	0.91831	0.7415	M	0.62016	1.91	0.34361	D	0.691012	D;D	0.76494	0.999;0.999	D;D	0.72982	0.964;0.979	D	0.89616	0.3845	10	0.40728	T	0.16	.	4.0991	0.10005	0.0:0.5812:0.1972:0.2216	.	1177;1170	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	1170;1202;1177;1177;305;160	ENSP00000351767:P1170T;ENSP00000323077:P1202T;ENSP00000408690:P1177T;ENSP00000414753:P1177T;ENSP00000410799:P305T;ENSP00000406345:P160T	ENSP00000323077:P1202T	P	+	1	0	COL20A1	61428599	0.037000	0.19845	0.339000	0.25562	0.023000	0.10783	1.718000	0.38001	0.165000	0.19558	0.313000	0.20887	CCA		0.622	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		9	44	1	0	3.86212e-05	1	3.93988e-05	9	44				
BTBD7	55727	broad.mit.edu	37	14	93730244	93730244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93730244G>A	ENST00000334746.5	-	4	1565	c.1258C>T	c.(1258-1260)Cga>Tga	p.R420*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R69*|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	420	BACK.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAGCTTGTCGGTGCACCCAT	0.428																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1258-1260)Cga>Tga		BTB (POZ) domain containing 7							139.0	127.0	131.0					14																	93730244		2203	4300	6503	SO:0001587	stop_gained	55727							g.chr14:93730244G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1258C>T	14.37:g.93730244G>A	ENSP00000335615:p.Arg420*					BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R69*|BTBD7_ENST00000393170.2_Intron	p.R420*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	4	1565	-		all_cancers(154;0.08)	420					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	ENST00000334746.5	37	c.1258C>T	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	39	7.793190	0.98492	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	.	.	.	4.99	2.87	0.33458	.	0.055019	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.747	0.57287	0.0:0.1175:0.7463:0.1362	.	.	.	.	X	420;69	.	ENSP00000335615:R420X	R	-	1	2	BTBD7	92799997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.319000	0.59197	1.100000	0.41517	0.558000	0.71614	CGA		0.428	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		17	404	0	0	0	1	0	17	404				
OXCT1	5019	broad.mit.edu	37	5	41805740	41805740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41805740G>A	ENST00000196371.5	-	9	1044	c.884C>T	c.(883-885)gCt>gTt	p.A295V	OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	295					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCCAGGTTTAGCAGATTTGGC	0.423																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(883-885)gCt>gTt		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						144.0	142.0	143.0					5																	41805740		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41805740G>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.884C>T	5.37:g.41805740G>A	ENSP00000196371:p.Ala295Val					OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	p.A295V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			9	1044	-			295					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.884C>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	G	8.016	0.758665	0.15846	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.79141	-1.24;-1.24	5.22	-5.59	0.02505	.	0.837146	0.11006	N	0.609933	T	0.51295	0.1666	N	0.13168	0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.27082	T	0.32	0.5894	4.0039	0.09592	0.094:0.1396:0.425:0.3415	.	295	P55809	SCOT1_HUMAN	V	295;109	ENSP00000196371:A295V;ENSP00000425348:A109V	ENSP00000196371:A295V	A	-	2	0	OXCT1	41841497	0.055000	0.20627	0.000000	0.03702	0.256000	0.26092	-0.005000	0.12855	-0.846000	0.04174	-0.219000	0.12488	GCT		0.423	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		82	342	0	0	0	1	0	82	342				
EXOSC10	5394	broad.mit.edu	37	1	11142806	11142806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11142806G>T	ENST00000376936.4	-	10	1268	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	EXOSC10_ENST00000485606.1_5'Flank|EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M|EXOSC10_ENST00000544779.1_Missense_Mutation_p.L407M	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	407					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TAGAGTTTCAGGAGATGATCG	0.463																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1219-1221)Ctg>Atg		exosome component 10							211.0	187.0	195.0					1																	11142806		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11142806G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1219C>A	1.37:g.11142806G>T	ENSP00000366135:p.Leu407Met					EXOSC10_ENST00000376936.4_Missense_Mutation_p.L407M|EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M	p.L407M			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	10	1224	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	407					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.1219C>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918451	0.73098	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.65178	-0.14;-0.14;-0.14	6.07	4.19	0.49359	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.86097	2.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.977;0.987	T	0.82651	-0.0352	10	0.66056	D	0.02	-16.9186	12.3392	0.55085	0.1378:0.0:0.8622:0.0	.	407;407	Q01780-2;Q01780	.;EXOSX_HUMAN	M	407	ENSP00000366135:L407M;ENSP00000307307:L407M;ENSP00000439473:L407M	ENSP00000307307:L407M	L	-	1	2	EXOSC10	11065393	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.187000	0.58344	1.572000	0.49736	0.655000	0.94253	CTG		0.463	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		79	594	1	0	9.35349e-44	1	1.14279e-43	79	594				
MAEL	84944	broad.mit.edu	37	1	166991023	166991023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166991023C>A	ENST00000367872.4	+	12	1480	c.1236C>A	c.(1234-1236)aaC>aaA	p.N412K	MAEL_ENST00000367870.2_Missense_Mutation_p.N381K|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	412					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATTCTCCAACTGTGACACTT	0.393																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1234-1236)aaC>aaA		maelstrom spermatogenic transposon silencer							148.0	145.0	146.0					1																	166991023		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166991023C>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1236C>A	1.37:g.166991023C>A	ENSP00000356846:p.Asn412Lys					MAEL_ENST00000367870.2_Missense_Mutation_p.N381K|MAEL_ENST00000491055.1_3'UTR	p.N412K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			12	1480	+			412					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1236C>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208493	0.39003	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.42131	0.98;0.99	5.04	2.98	0.34508	.	0.554792	0.17543	N	0.170450	T	0.09686	0.0238	N	0.14661	0.345	0.25966	N	0.982561	B;B	0.17038	0.008;0.02	B;B	0.14023	0.007;0.01	T	0.12863	-1.0531	10	0.72032	D	0.01	.	4.6626	0.12650	0.2188:0.6689:0.0:0.1123	.	381;412	E9JVC3;Q96JY0	.;MAEL_HUMAN	K	412;381;134	ENSP00000356846:N412K;ENSP00000356844:N381K	ENSP00000356844:N381K	N	+	3	2	MAEL	165257647	0.053000	0.20554	0.952000	0.39060	0.996000	0.88848	0.045000	0.14013	1.306000	0.44926	0.655000	0.94253	AAC		0.393	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		84	474	1	0	5.78178e-49	1	7.14446e-49	84	474				
ZNF485	220992	broad.mit.edu	37	10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(700-702)aGa>aTa		zinc finger protein 485							53.0	58.0	56.0					10																	44112192		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112192G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.701G>T	10.37:g.44112192G>T	ENSP00000354694:p.Arg234Ile					ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I|ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I	p.R234I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	895	+			234					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.701G>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300985	0.40694	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.24908	1.83;1.83;1.83	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.60904	1.88	0.44603	D	0.997574	P	0.36974	0.576	B	0.36289	0.221	T	0.15350	-1.0440	9	0.51188	T	0.08	.	10.772	0.46327	0.0:0.0:1.0:0.0	.	234	Q8NCK3	ZN485_HUMAN	I	234;143;234	ENSP00000354694:R234I;ENSP00000363560:R143I;ENSP00000363558:R234I	ENSP00000354694:R234I	R	+	2	0	ZNF485	43432198	0.004000	0.15560	0.999000	0.59377	0.949000	0.60115	1.362000	0.34148	1.613000	0.50231	0.462000	0.41574	AGA		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		64	261	1	0	3.13296e-38	1	3.77304e-38	64	261				
CCDC108	255101	broad.mit.edu	37	2	219874743	219874743	+	Missense_Mutation	SNP	C	C	T	rs201564070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219874743C>T	ENST00000341552.5	-	27	4456	c.4373G>A	c.(4372-4374)cGc>cAc	p.R1458H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1458						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGCAGGCGGCTGCACTT	0.522																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4372-4374)cGc>cAc		coiled-coil domain containing 108							97.0	92.0	93.0					2																	219874743		2201	4299	6500	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219874743C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4373G>A	2.37:g.219874743C>T	ENSP00000340776:p.Arg1458His					CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H	p.R1458H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	27	4456	-		Renal(207;0.0915)	1458					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4373G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	33	5.231706	0.95207	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.11169	2.8;2.8;2.8	5.8	5.8	0.92144	.	0.000000	0.46442	D	0.000293	T	0.21962	0.0529	M	0.72894	2.215	0.80722	D	1	P	0.49961	0.93	P	0.45343	0.477	T	0.00611	-1.1645	10	0.87932	D	0	-29.3898	19.6518	0.95819	0.0:1.0:0.0:0.0	.	1458	Q6ZU64	CC108_HUMAN	H	1458	ENSP00000340776:R1458H;ENSP00000413377:R1458H;ENSP00000409117:R1458H	ENSP00000340776:R1458H	R	-	2	0	CCDC108	219582987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.827000	0.62723	2.752000	0.94435	0.650000	0.86243	CGC		0.522	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		40	177	0	0	0	1	0	40	177				
UBE3A	7337	broad.mit.edu	37	15	25601996	25601996	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25601996A>G	ENST00000397954.2	-	6	1809	c.1810T>C	c.(1810-1812)Tct>Cct	p.S604P	UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|UBE3A_ENST00000232165.3_Missense_Mutation_p.S601P			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	604					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCAAAAGAAGATGGATTAAAC	0.313																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1801-1803)Tct>Cct		ubiquitin protein ligase E3A							145.0	157.0	153.0					15																	25601996		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25601996A>G	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1810T>C	15.37:g.25601996A>G	ENSP00000381045:p.Ser604Pro					UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P|UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.S604P	p.S601P	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	8	2457	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	604					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1801T>C	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939995	0.92526	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.71	5.71	0.89125	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	L	0.50919	1.6	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.61477	0.766;0.889	T	0.61510	-0.7048	10	0.33940	T	0.23	.	15.9836	0.80130	1.0:0.0:0.0:0.0	.	601;604	Q05086-3;Q05086	.;UBE3A_HUMAN	P	601;601;604;581;581	ENSP00000232165:S601P;ENSP00000381045:S604P;ENSP00000411258:S581P;ENSP00000401265:S581P	ENSP00000232165:S601P	S	-	1	0	UBE3A	23153089	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.338000	0.96553	2.185000	0.69588	0.528000	0.53228	TCT		0.313	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		16	1024	0	0	0	1	0	16	1024				
TMEM202	338949	broad.mit.edu	37	15	72691241	72691241	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72691241A>C	ENST00000341689.3	+	2	383	c.329A>C	c.(328-330)aAg>aCg	p.K110T	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	110						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CACACACCCAAGCCACCCTGT	0.517																																						ENST00000341689.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(328-330)aAg>aCg		transmembrane protein 202							91.0	86.0	87.0					15																	72691241		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72691241A>C		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.329A>C	15.37:g.72691241A>C	ENSP00000340212:p.Lys110Thr					TMEM202_ENST00000567679.1_Intron	p.K110T	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN			2	383	+			110						Missense_Mutation	SNP	ENST00000341689.3	37	c.329A>C	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775452	0.31411	.	.	ENSG00000187806	ENST00000341689	T	0.44881	0.91	3.72	2.55	0.30701	.	0.279921	0.25552	N	0.029897	T	0.48892	0.1525	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	P	0.61003	0.882	T	0.39461	-0.9613	10	0.42905	T	0.14	-14.1691	6.0233	0.19640	0.878:0.0:0.122:0.0	.	110	A6NGA9	TM202_HUMAN	T	110	ENSP00000340212:K110T	ENSP00000340212:K110T	K	+	2	0	TMEM202	70478295	0.001000	0.12720	0.998000	0.56505	0.263000	0.26337	0.464000	0.21988	0.583000	0.29574	0.533000	0.62120	AAG		0.517	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		15	468	0	0	0	1	0	15	468				
ZNF17	7565	broad.mit.edu	37	19	57929366	57929366	+	Silent	SNP	C	C	T	rs191501099	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57929366C>T	ENST00000601808.1	+	2	315	c.102C>T	c.(100-102)agC>agT	p.S34S	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Silent_p.S46S|ZNF17_ENST00000307658.7_Silent_p.S36S|ZNF17_ENST00000595206.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACCTGCACAGCGATGTGATGC	0.453													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		18703	0.0		0.0	False		,,,				2504	0.0				Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(106-108)agC>agT		zinc finger protein 17		C		14,4386	21.2+/-45.6	0,14,2186	189.0	185.0	186.0		102	-1.4	0.0	19		186	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	ZNF17	NM_006959.2		0,19,6481	TT,TC,CC		0.0581,0.3182,0.1462		34/663	57929366	19,12981	2200	4300	6500	SO:0001819	synonymous_variant	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57929366C>T	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.102C>T	19.37:g.57929366C>T						AC003002.6_ENST00000596400.1_Silent_p.S46S|ZNF17_ENST00000601808.1_Silent_p.S34S|ZNF17_ENST00000595206.1_Intron|AC004076.7_ENST00000597410.1_Intron	p.S36S			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	371	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	34			KRAB.		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	c.108C>T	CCDS42636.1																																																																																				0.453	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		96	827	0	0	0	1	0	96	827				
MYOM3	127294	broad.mit.edu	37	1	24383922	24383922	+	Missense_Mutation	SNP	C	C	T	rs369560899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24383922C>T	ENST00000374434.3	-	37	4408	c.4246G>A	c.(4246-4248)Gag>Aag	p.E1416K	MYOM3_ENST00000330966.7_Missense_Mutation_p.E1419K|MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1416	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCCGTCTCGGAGCCATAC	0.567																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(4255-4257)Gag>Aag		myomesin 3		C	LYS/GLU	0,4152		0,0,2076	87.0	87.0	87.0		4246	5.2	0.9	1		87	1,8385		0,1,4192	no	missense	MYOM3	NM_152372.3	56	0,1,6268	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1416/1438	24383922	1,12537	2076	4193	6269	SO:0001583	missense	127294							g.chr1:24383922C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4246G>A	1.37:g.24383922C>T	ENSP00000363557:p.Glu1416Lys					MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1416K	p.E1419K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	37	4417	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1416			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.4255G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247414	0.95305	0.0	1.19E-4	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.66995	-0.24;-0.24;-0.24	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059545	0.64402	D	0.000003	T	0.73418	0.3584	L	0.41027	1.25	0.80722	D	1	D;P	0.89917	1.0;0.944	D;B	0.66716	0.946;0.216	T	0.66897	-0.5807	10	0.13470	T	0.59	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	1416;309	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	309;1416;1419;310	ENSP00000342689:E309K;ENSP00000363557:E1416K;ENSP00000332670:E1419K	ENSP00000332670:E1419K	E	-	1	0	MYOM3	24256509	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	4.683000	0.61679	2.436000	0.82500	0.655000	0.94253	GAG		0.567	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		58	165	0	0	0	1	0	58	165				
ARHGEF11	9826	broad.mit.edu	37	1	156933060	156933060	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156933060A>C	ENST00000361409.2	-	12	1697	c.955T>G	c.(955-957)Tct>Gct	p.S319A	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S359A	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	319	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCCGAGACTTCAGTTTC	0.537																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(1075-1077)Tct>Gct		Rho guanine nucleotide exchange factor (GEF) 11							57.0	58.0	57.0					1																	156933060		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156933060A>C	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.955T>G	1.37:g.156933060A>C	ENSP00000354644:p.Ser319Ala					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S319A	p.S359A	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			13	2114	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		319			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1075T>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616613	0.46736	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.83673	-1.75;-1.75	5.56	3.1	0.35709	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.290213	0.24604	N	0.037108	T	0.62380	0.2423	L	0.47016	1.485	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63778	-0.6560	10	0.54805	T	0.06	-7.3991	6.1864	0.20500	0.4942:0.2718:0.0:0.234	.	319;359	O15085;O15085-2	ARHGB_HUMAN;.	A	359;319	ENSP00000357177:S359A;ENSP00000354644:S319A	ENSP00000354644:S319A	S	-	1	0	ARHGEF11	155199684	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	1.504000	0.35726	0.938000	0.37419	0.533000	0.62120	TCT		0.537	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		13	165	0	0	0	1	0	13	165				
CSMD1	64478	broad.mit.edu	37	8	2886927	2886927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2886927G>T	ENST00000520002.1	-	52	8327	c.7772C>A	c.(7771-7773)cCt>cAt	p.P2591H	CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2591	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAGTAACCAGGACTGCAGCT	0.537																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7771-7773)cCt>cAt		CUB and Sushi multiple domains 1							74.0	72.0	73.0					8																	2886927		2012	4174	6186	SO:0001583	missense	64478					integral to membrane		g.chr8:2886927G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7772C>A	8.37:g.2886927G>T	ENSP00000430733:p.Pro2591His					CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H	p.P2591H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8327	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2591			Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7772C>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.241112	0.79912	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.88	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (3);	0.279436	0.29737	N	0.011325	D	0.83229	0.5209	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.973	D;D;P	0.74348	0.964;0.983;0.891	D	0.85819	0.1384	10	0.72032	D	0.01	.	18.2377	0.89956	0.0:0.0:1.0:0.0	.	2591;2591;2590	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2591;2591;2452;2590;2590	ENSP00000383047:P2591H;ENSP00000430733:P2591H;ENSP00000441462:P2590H;ENSP00000446243:P2590H	ENSP00000320445:P2452H	P	-	2	0	CSMD1	2874334	1.000000	0.71417	0.133000	0.22050	0.944000	0.59088	8.285000	0.89914	2.552000	0.86080	0.591000	0.81541	CCT		0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		21	77	1	0	2.4624e-09	1	2.59004e-09	21	77				
KDM2B	84678	broad.mit.edu	37	12	121881856	121881856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121881856G>A	ENST00000377071.4	-	16	2482	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R773W	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	804					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGTATTTCCGCTTCTTCCTC	0.657											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2317-2319)Cgg>Tgg		lysine (K)-specific demethylase 2B							72.0	79.0	77.0					12																	121881856		2036	4166	6202	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121881856G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2410C>T	12.37:g.121881856G>A	ENSP00000366271:p.Arg804Trp		OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_ENST00000377071.4_Missense_Mutation_p.R804W|KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000536437.1_Intron	p.R773W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			16	2723	-			804					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2317C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031468	0.75504	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.26518	2.01;2.25;1.73	5.92	5.02	0.67125	.	0.275088	0.24502	N	0.037974	T	0.45357	0.1338	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;P;D	0.65987	0.876;0.94;0.874;0.912	T	0.42344	-0.9457	10	0.66056	D	0.02	-10.6048	15.1846	0.72989	0.0:0.0:0.6697:0.3303	.	244;804;773;247	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	804;172;773;804;247;807	ENSP00000437821:R172W;ENSP00000366269:R773W;ENSP00000366271:R804W	ENSP00000261824:R807W	R	-	1	2	KDM2B	120366239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.394000	0.52551	1.491000	0.48482	0.561000	0.74099	CGG		0.657	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		152	549	0	0	0	1	0	152	549				
MAP2K4	6416	broad.mit.edu	37	17	12032574	12032574	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12032574C>A	ENST00000353533.5	+	9	1073	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	MAP2K4_ENST00000415385.3_Missense_Mutation_p.S348Y	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGGGAATTCTCCCCGAGTTTC	0.428			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1042-1044)tCc>tAc		mitogen-activated protein kinase kinase 4							114.0	108.0	110.0					17																	12032574		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032574C>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1010C>A	17.37:g.12032574C>A	ENSP00000262445:p.Ser337Tyr					MAP2K4_ENST00000353533.5_Missense_Mutation_p.S337Y	p.S348Y			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1096	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	337			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.1043C>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983003	0.93044	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26067	1.76;1.76	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.80764	0.994;0.974;0.985	T	0.72855	-0.4166	10	0.87932	D	0	.	17.8069	0.88604	0.0:1.0:0.0:0.0	.	209;348;337	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Y	337;348;314;209	ENSP00000262445:S337Y;ENSP00000410402:S348Y	ENSP00000262445:S337Y	S	+	2	0	MAP2K4	11973299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.805000	0.96524	0.655000	0.94253	TCC		0.428	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			16	335	1	0	5.35267e-07	1	5.54261e-07	16	335				
ITFG1	81533	broad.mit.edu	37	16	47195737	47195737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47195737G>A	ENST00000320640.6	-	16	1813	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	529						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TCTTGTTTTCGTATAGACTGG	0.328																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1585-1587)Cga>Tga		integrin alpha FG-GAP repeat containing 1							175.0	162.0	166.0					16																	47195737		2202	4300	6502	SO:0001587	stop_gained	81533					extracellular region|integral to membrane		g.chr16:47195737G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1585C>T	16.37:g.47195737G>A	ENSP00000319918:p.Arg529*					RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA	p.R529*	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			16	1813	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	529					Q96SR4|Q9BRE2|Q9H2V9	Nonsense_Mutation	SNP	ENST00000320640.6	37	c.1585C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733351	0.97796	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.41	1.6	0.23607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.0712	9.6162	0.39692	0.0707:0.0:0.4397:0.4895	.	.	.	.	X	529;189;274;416	.	ENSP00000319918:R529X	R	-	1	2	ITFG1	45753238	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	1.485000	0.35519	0.383000	0.24910	0.467000	0.42956	CGA		0.328	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		98	442	0	0	0	1	0	98	442				
C9orf84	158401	broad.mit.edu	37	9	114454384	114454384	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454384C>A	ENST00000318737.4	-	25	3809	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000394779.3_Missense_Mutation_p.E1188D	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1227										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGACATCTGACTCTGAATCAC	0.373																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(3562-3564)gaG>gaT		chromosome 9 open reading frame 84							54.0	59.0	57.0					9																	114454384		2202	4300	6502	SO:0001583	missense	158401							g.chr9:114454384C>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3681G>T	9.37:g.114454384C>A	ENSP00000322108:p.Glu1227Asp					C9orf84_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D|C9orf84_ENST00000318737.4_Missense_Mutation_p.E1227D	p.E1188D	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			23	3808	-			1227					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3564G>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285060	0.40394	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.06142	3.34;3.38;3.35;3.35	5.4	-2.56	0.06268	.	0.539342	0.16780	N	0.199831	T	0.03783	0.0107	L	0.32530	0.975	0.23227	N	0.998088	B;B;B	0.13594	0.008;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.34453	-0.9828	10	0.49607	T	0.09	-0.0425	1.4932	0.02461	0.1172:0.2962:0.2293:0.3574	.	1153;1227;1188	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	D	1188;1153;841;1227;1227	ENSP00000378259:E1188D;ENSP00000378257:E1153D;ENSP00000363405:E1227D;ENSP00000322108:E1227D	ENSP00000322108:E1227D	E	-	3	2	C9orf84	113494205	0.193000	0.23313	0.326000	0.25389	0.930000	0.56654	-0.665000	0.05286	-0.743000	0.04784	0.467000	0.42956	GAG		0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		7	354	1	0	0.000157383	1	0.000159814	7	354				
ZNF225	7768	broad.mit.edu	37	19	44636174	44636174	+	Silent	SNP	G	G	A	rs145291466	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636174G>A	ENST00000262894.6	+	5	1687	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.S469S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GCTGGGCCTCGTGTCTTTTGA	0.413													A|||	3	0.000599042	0.0023	0.0	5008	,	,		19960	0.0		0.0	False		,,,				2504	0.0					ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1405-1407)tcG>tcA		zinc finger protein 225		A		15,4387	800.4+/-415.6	0,15,2186	67.0	72.0	71.0		1407	-3.4	0.0	19	dbSNP_134	71	0,8598		0,0,4299	no	coding-synonymous	ZNF225	NM_013362.2		0,15,6485	AA,AG,GG		0.0,0.3408,0.1154		469/707	44636174	15,12985	2201	4299	6500	SO:0001819	synonymous_variant	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636174G>A	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1407G>A	19.37:g.44636174G>A						ZNF225_ENST00000590612.1_Silent_p.S469S|ZNF225_ENST00000592780.1_3'UTR	p.S469S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	1687	+		Prostate(69;0.0352)|all_neural(266;0.202)	469					A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	ENST00000262894.6	37	c.1407G>A	CCDS46100.1																																																																																				0.413	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			99	381	0	0	0	1	0	99	381				
FSIP2	401024	broad.mit.edu	37	2	186673515	186673515	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186673515A>G	ENST00000424728.1	+	17	19482	c.19482A>G	c.(19480-19482)gaA>gaG	p.E6494E	FSIP2_ENST00000343098.5_Silent_p.E6583E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6494										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGCCCAAGAACATGCTTTTA	0.323																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(19747-19749)gaA>gaG		fibrous sheath interacting protein 2							60.0	58.0	58.0					2																	186673515		1815	4064	5879	SO:0001819	synonymous_variant	401024							g.chr2:186673515A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19482A>G	2.37:g.186673515A>G						FSIP2_ENST00000424728.1_Silent_p.E6494E	p.E6583E	NM_173651.2	NP_775922.2					17	19749	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.19749A>G																																																																																					0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		17	437	0	0	0	1	0	17	437				
CD84	8832	broad.mit.edu	37	1	160535424	160535424	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160535424G>T	ENST00000311224.4	-	2	224	c.158C>A	c.(157-159)gCt>gAt	p.A53D	CD84_ENST00000368051.3_Missense_Mutation_p.A53D|CD84_ENST00000368054.3_Missense_Mutation_p.A53D|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.A53D|CD84_ENST00000368047.3_5'UTR	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	53	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAAGTCCAAGCAATGATTTT	0.413																																						ENST00000368054.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(157-159)gCt>gAt		CD84 molecule							118.0	113.0	115.0					1																	160535424		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160535424G>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.158C>A	1.37:g.160535424G>T	ENSP00000312367:p.Ala53Asp					CD84_ENST00000368051.3_Missense_Mutation_p.A53D|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Missense_Mutation_p.A53D|CD84_ENST00000368048.3_Missense_Mutation_p.A53D|CD84_ENST00000534968.1_Intron	p.A53D	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	193	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		53					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.158C>A	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457780	0.26161	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.11	-0.318	0.12728	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.821648	0.11607	N	0.547213	T	0.04815	0.0130	L	0.39020	1.185	0.09310	N	0.999999	D;P;P;B;P;P	0.56035	0.974;0.596;0.763;0.395;0.53;0.53	P;B;B;B;B;B	0.44518	0.452;0.079;0.117;0.053;0.114;0.114	T	0.20273	-1.0280	10	0.18276	T	0.48	-2.547	3.1063	0.06342	0.2666:0.0:0.4121:0.3212	.	53;53;53;53;53;53	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	D	53	ENSP00000357033:A53D;ENSP00000357027:A53D;ENSP00000312367:A53D;ENSP00000357030:A53D;ENSP00000353163:A53D;ENSP00000357026:A53D	ENSP00000312367:A53D	A	-	2	0	CD84	158802048	0.020000	0.18652	0.228000	0.23943	0.038000	0.13279	0.261000	0.18442	0.119000	0.18210	0.591000	0.81541	GCT		0.413	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		22	587	1	0	2.37509e-13	1	2.56396e-13	22	587				
MCOLN1	57192	broad.mit.edu	37	19	7595239	7595239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595239C>T	ENST00000264079.6	+	12	1552	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	476					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGTTTGTGACGTTCGCCGCC	0.602																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1426-1428)aCg>aTg		mucolipin 1							210.0	197.0	201.0					19																	7595239		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595239C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1427C>T	19.37:g.7595239C>T	ENSP00000264079:p.Thr476Met						p.T476M	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1552	+			476					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1427C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457621	0.84317	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.87809	-2.3	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.94775	0.7948	10	0.87932	D	0	.	16.4162	0.83743	0.0:1.0:0.0:0.0	.	441;476	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	476;441	ENSP00000264079:T476M	ENSP00000264079:T476M	T	+	2	0	MCOLN1	7501239	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	7.487000	0.81328	2.478000	0.83669	0.563000	0.77884	ACG		0.602	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		288	1287	0	0	0	1	0	288	1287				
RAPH1	65059	broad.mit.edu	37	2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A	rs541215148		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204320201G>A	ENST00000319170.5	-	9	1560	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	421	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGATGCTCGCAAGAGAAAA	0.383																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1261-1263)Cga>Tga		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							146.0	146.0	146.0					2																	204320201		2203	4300	6503	SO:0001587	stop_gained	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204320201G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1261C>T	2.37:g.204320201G>A	ENSP00000316543:p.Arg421*					RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*	p.R421*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			9	1560	-			421			PH.		Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	ENST00000319170.5	37	c.1261C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804315	0.90623	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	.	.	.	5.55	-0.0397	0.13875	.	0.000000	0.40222	N	0.001153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3466	15.9791	0.80094	0.0:0.0:0.4223:0.5777	.	.	.	.	X	421;421;473;448;446;473;446;421;448;473;446;421;448	.	ENSP00000311293:R473X	R	-	1	2	RAPH1	204028446	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	2.501000	0.45389	0.052000	0.16007	0.655000	0.94253	CGA		0.383	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		15	766	0	0	0	1	0	15	766				
RFC2	5982	broad.mit.edu	37	7	73664070	73664070	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73664070G>A	ENST00000055077.3	-	3	284	c.224C>T	c.(223-225)gCg>gTg	p.A75V	RFC2_ENST00000352131.3_Splice_Site_p.A75V	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	75					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GGTACTCACCGCAATGATGAT	0.502																																						ENST00000055077.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.e3+1		replication factor C (activator 1) 2, 40kDa							185.0	150.0	162.0					7																	73664070		2203	4300	6503	SO:0001630	splice_region_variant	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73664070G>A		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.225+1C>T	7.37:g.73664070G>A						RFC2_ENST00000352131.3_Splice_Site_p.A75_splice	p.A75_splice	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN			3	284	-			75					B5BU07|D3DXG3|P32846|Q9BU93	Splice_Site	SNP	ENST00000055077.3	37	c.225_splice	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411092	0.83340	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;D	0.92495	1.07;-3.05	4.63	4.63	0.57726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.048801	0.85682	D	0.000000	D	0.85729	0.5764	N	0.04686	-0.185	0.80722	D	1	P;P;P	0.47191	0.593;0.646;0.891	B;P;P	0.45971	0.366;0.499;0.499	D	0.87888	0.2682	10	0.44086	T	0.13	.	16.4223	0.83771	0.0:0.0:1.0:0.0	.	75;75;75	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	V	75	ENSP00000275627:A75V;ENSP00000055077:A75V	ENSP00000055077:A75V	A	-	2	0	RFC2	73302006	1.000000	0.71417	0.921000	0.36526	0.423000	0.31445	9.318000	0.96334	2.309000	0.77851	0.442000	0.29010	GCG		0.502	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471	Missense_Mutation	19	418	0	0	0	1	0	19	418				
ZNF615	284370	broad.mit.edu	37	19	52497300	52497300	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497300A>C	ENST00000602063.1	-	6	1378	c.1029T>G	c.(1027-1029)ccT>ccG	p.P343P	ZNF615_ENST00000598071.1_Silent_p.P354P|ZNF615_ENST00000594083.1_Silent_p.P354P|ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000376716.5_Silent_p.P343P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TACATATATAAGGTTTTTCTC	0.403																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1027-1029)ccT>ccG		zinc finger protein 615							82.0	88.0	86.0					19																	52497300		2203	4299	6502	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497300A>C	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1029T>G	19.37:g.52497300A>C						ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000376716.5_Silent_p.P343P|ZNF615_ENST00000598071.1_Silent_p.P354P|ZNF615_ENST00000594083.1_Silent_p.P354P	p.P343P			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1378	-		all_neural(266;0.117)	343					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1029T>G	CCDS12846.1																																																																																				0.403	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		108	456	0	0	0	1	0	108	456				
ZNF329	79673	broad.mit.edu	37	19	58639933	58639933	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639933T>G	ENST00000598312.1	-	4	1171	c.938A>C	c.(937-939)aAa>aCa	p.K313T	ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCTATATGGTTTTTCCCCTGT	0.438																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(937-939)aAa>aCa		zinc finger protein 329							135.0	133.0	134.0					19																	58639933		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639933T>G	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.938A>C	19.37:g.58639933T>G	ENSP00000470008:p.Lys313Thr					ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	p.K313T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1171	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	313					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.938A>C	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654379	0.47467	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.24908	1.83;1.83	4.01	4.01	0.46588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.42108	0.1188	M	0.76170	2.325	0.46927	D	0.999254	D	0.59357	0.985	P	0.59171	0.853	T	0.39014	-0.9634	10	0.87932	D	0	-22.8886	7.6583	0.28388	0.0:0.0986:0.0:0.9014	.	313	Q86UD4	ZN329_HUMAN	T	313	ENSP00000350773:K313T;ENSP00000439527:K313T	ENSP00000350773:K313T	K	-	2	0	ZNF329	63331745	0.294000	0.24380	0.999000	0.59377	0.886000	0.51366	0.900000	0.28431	2.055000	0.61198	0.533000	0.62120	AAA		0.438	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		127	467	0	0	0	1	0	127	467				
COL4A4	1286	broad.mit.edu	37	2	227945157	227945157	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227945157A>G	ENST00000396625.3	-	24	2011		c.e24+1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATTCTACATACTGGAGGTCC	0.448																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.e24+1		collagen, type IV, alpha 4							107.0	109.0	108.0					2																	227945157		1856	4105	5961	SO:0001630	splice_region_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945157A>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1803+1T>C	2.37:g.227945157A>G						COL4A4_ENST00000329662.7_Splice_Site		NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	24	2011	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)						A8MTZ1|Q53RW9|Q53S42|Q53WR1	Splice_Site	SNP	ENST00000396625.3	37		CCDS42828.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242599	0.22796	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8654	0.35282	0.9169:0.0:0.0831:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A4	227653401	1.000000	0.71417	0.960000	0.40013	0.030000	0.12068	5.234000	0.65343	2.269000	0.75478	0.533000	0.62120	.		0.448	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	Intron	97	521	0	0	0	1	0	97	521				
SYNPO	11346	broad.mit.edu	37	5	150027809	150027809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027809G>A	ENST00000394243.1	+	3	1078	c.704G>A	c.(703-705)aGc>aAc	p.S235N	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	235					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCCCAGAGCCCCGACAGA	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(703-705)aGc>aAc		synaptopodin							23.0	30.0	28.0					5																	150027809		2202	4300	6502	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150027809G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.704G>A	5.37:g.150027809G>A	ENSP00000377789:p.Ser235Asn					SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR	p.S235N	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1078	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	235					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.704G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202039	0.22121	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.23754	1.89;1.89	5.16	2.19	0.27852	.	0.000000	0.48767	D	0.000172	T	0.15392	0.0371	L	0.29908	0.895	0.40926	D	0.984353	B	0.18166	0.026	B	0.19391	0.025	T	0.09640	-1.0665	10	0.17369	T	0.5	-11.3873	7.7797	0.29058	0.1734:0.1482:0.6784:0.0	.	235	Q8N3V7	SYNPO_HUMAN	N	235	ENSP00000377789:S235N;ENSP00000428378:S235N	ENSP00000377789:S235N	S	+	2	0	SYNPO	150008002	0.000000	0.05858	0.979000	0.43373	0.720000	0.41350	-0.198000	0.09505	0.587000	0.29643	0.561000	0.74099	AGC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		28	106	0	0	0	1	0	28	106				
TRAF7	84231	broad.mit.edu	37	16	2223811	2223811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223811C>T	ENST00000326181.6	+	12	1241	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	370					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACATCAACGCGCGGCTGAAC	0.706																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1108-1110)gCg>gTg		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							38.0	37.0	38.0					16																	2223811		2197	4298	6495	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2223811C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1109C>T	16.37:g.2223811C>T	ENSP00000318944:p.Ala370Val						p.A370V	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			12	1241	+			370					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.1109C>T	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280166	0.80692	.	.	ENSG00000131653	ENST00000326181	T	0.51071	0.72	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	N	0.24115	0.695	0.80722	D	1	P	0.48640	0.913	B	0.31390	0.129	T	0.21381	-1.0247	10	0.39692	T	0.17	-20.8037	17.1906	0.86878	0.0:1.0:0.0:0.0	.	370	Q6Q0C0	TRAF7_HUMAN	V	370	ENSP00000318944:A370V	ENSP00000318944:A370V	A	+	2	0	TRAF7	2163812	1.000000	0.71417	0.111000	0.21465	0.848000	0.48234	7.195000	0.77798	2.521000	0.84997	0.655000	0.94253	GCG		0.706	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		46	213	0	0	0	1	0	46	213				
PCDH15	65217	broad.mit.edu	37	10	56077098	56077098	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56077098A>C	ENST00000320301.6	-	8	1203	c.809T>G	c.(808-810)cTt>cGt	p.L270R	PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373965.2_Missense_Mutation_p.L270R|PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	270					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTGGCACAAGGACACAAGG	0.463										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(808-810)cTt>cGt		protocadherin-related 15							185.0	143.0	157.0					10																	56077098		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56077098A>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.809T>G	10.37:g.56077098A>C	ENSP00000322604:p.Leu270Arg	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000320301.6_Missense_Mutation_p.L270R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R	p.L270R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			8	1203	-		Melanoma(3;0.117)|Lung SC(717;0.238)	270					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.809T>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204285	0.58234	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.31;0.33;0.26;0.28;0.32;0.55;0.46;0.23;0.15;0.19;0.18;0.15;0.15;0.23;0.36	4.77	4.77	0.60923	.	.	.	.	.	T	0.68118	0.2966	L	0.48362	1.52	0.32019	N	0.600995	D;P;P;B;D;P;D;D;P;B;D;D;D;D;P	0.76494	0.997;0.866;0.506;0.199;0.997;0.866;0.997;0.991;0.506;0.307;0.999;0.999;0.979;0.999;0.506	D;P;B;B;D;P;D;D;B;B;D;D;D;D;B	0.72338	0.958;0.521;0.217;0.099;0.968;0.521;0.958;0.954;0.292;0.217;0.968;0.977;0.951;0.968;0.217	T	0.70063	-0.4975	9	0.30078	T	0.28	.	14.2438	0.65975	1.0:0.0:0.0:0.0	.	248;270;270;275;270;233;270;270;270;270;270;275;270;248;270	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	270;275;270;270;270;270;270;270;233;270;248;248;270;270;275;270;270	ENSP00000363076:L270R;ENSP00000410304:L275R;ENSP00000378826:L270R;ENSP00000378832:L270R;ENSP00000378833:L270R;ENSP00000378829:L270R;ENSP00000378827:L270R;ENSP00000378820:L233R;ENSP00000354950:L270R;ENSP00000378821:L248R;ENSP00000363068:L248R;ENSP00000322604:L270R;ENSP00000378818:L270R;ENSP00000412628:L270R;ENSP00000363066:L270R	ENSP00000322604:L270R	L	-	2	0	PCDH15	55747104	0.999000	0.42202	0.983000	0.44433	0.998000	0.95712	7.394000	0.79862	1.901000	0.55032	0.455000	0.32223	CTT		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		58	525	0	0	0	1	0	58	525				
MEDAG	84935	broad.mit.edu	37	13	31495263	31495263	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31495263G>T	ENST00000380482.4	+	3	826	c.501G>T	c.(499-501)caG>caT	p.Q167H	TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	167					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											ACCGGCTTCAGGTAAGCCTAG	0.507																																						ENST00000380482.4																			0											c.e3+1		mesenteric estrogen-dependent adipogenesis							95.0	82.0	86.0					13																	31495263		2203	4300	6503	SO:0001630	splice_region_variant	84935							g.chr13:31495263G>T	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.501+1G>T	13.37:g.31495263G>T						TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	p.Q167_splice	NM_032849.3	NP_116238.2					3	826	+								Q8IXF1|Q96K26|Q96NC8	Splice_Site	SNP	ENST00000380482.4	37	c.501_splice	CCDS9338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.996779|2.996779	0.54147|0.54147	.|.	.|.	ENSG00000102802|ENSG00000102802	ENST00000380482|ENST00000428944	T|.	0.47869|.	0.83|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.195191|.	0.45606|.	D|.	0.000345|.	T|T	0.53948|0.53948	0.1828|0.1828	L|L	0.27053|0.27053	0.805|0.805	0.40734|0.40734	D|D	0.982773|0.982773	P|.	0.47677|.	0.899|.	P|.	0.53809|.	0.735|.	T|T	0.51865|0.51865	-0.8651|-0.8651	10|5	0.72032|.	D|.	0.01|.	-11.2724|-11.2724	15.5273|15.5273	0.75923|0.75923	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167|.	Q5VYS4|.	CM033_HUMAN|.	H|M	167|104	ENSP00000369849:Q167H|.	ENSP00000369849:Q167H|.	Q|R	+|+	3|2	2|0	C13orf33|C13orf33	30393263|30393263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.741000|5.741000	0.68638|0.68638	2.408000|2.408000	0.81797|0.81797	0.467000|0.467000	0.42956|0.42956	CAG|AGG		0.507	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849	Missense_Mutation	21	98	1	0	7.45023e-12	1	7.97024e-12	21	98				
GDAP1L1	78997	broad.mit.edu	37	20	42907813	42907813	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42907813T>A	ENST00000342560.5	+	6	1065	c.977T>A	c.(976-978)gTc>gAc	p.V326D	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	326	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTCGGCCGTCATCCCCAAT	0.612																																						ENST00000342560.5																			0				endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(976-978)gTc>gAc		ganglioside induced differentiation associated protein 1-like 1							134.0	118.0	123.0					20																	42907813		2203	4300	6503	SO:0001583	missense	78997							g.chr20:42907813T>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.977T>A	20.37:g.42907813T>A	ENSP00000341782:p.Val326Asp					GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	p.V326D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1065	+		Myeloproliferative disorder(115;0.0122)	326			GST C-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.977T>A	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298469	0.81025	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000537864	D;D;D	0.98419	-4.92;-4.92;-4.92	5.14	5.14	0.70334	Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.991;0.997;0.996	D	0.99834	1.1056	10	0.87932	D	0	.	15.2475	0.73517	0.0:0.0:0.0:1.0	.	268;345;326	B7Z1I3;B7Z621;Q96MZ0	.;.;GD1L1_HUMAN	D	326;321;268;292;268;134	ENSP00000341782:V326D;ENSP00000392881:V268D;ENSP00000440498:V134D	ENSP00000341782:V326D	V	+	2	0	GDAP1L1	42341227	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.565000	0.82337	2.064000	0.61679	0.482000	0.46254	GTC		0.612	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		160	543	0	0	0	1	0	160	543				
PJA1	64219	broad.mit.edu	37	X	68382464	68382464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382464C>A	ENST00000361478.1	-	2	995	c.618G>T	c.(616-618)caG>caT	p.Q206H	PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Missense_Mutation_p.Q206H	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	206					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CAGAAGACGACTGTGAGGCCA	0.542																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(616-618)caG>caT		praja ring finger 1, E3 ubiquitin protein ligase							53.0	37.0	43.0					X																	68382464		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382464C>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.618G>T	X.37:g.68382464C>A	ENSP00000355014:p.Gln206His					PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000374583.1_Missense_Mutation_p.Q206H	p.Q206H	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	995	-			206					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.618G>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	c	3.484	-0.105231	0.06967	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14893	2.47;2.47;2.47	2.68	1.76	0.24704	.	1.378800	0.05464	U	0.551802	T	0.17066	0.0410	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32798	-0.9893	10	0.49607	T	0.09	.	3.5115	0.07709	0.0:0.5748:0.2667:0.1585	.	206	Q8NG27	PJA1_HUMAN	H	121;206;206;151	ENSP00000363711:Q206H;ENSP00000355014:Q206H;ENSP00000363699:Q151H	ENSP00000355014:Q206H	Q	-	3	2	PJA1	68299189	0.634000	0.27190	0.007000	0.13788	0.525000	0.34531	0.240000	0.18042	0.553000	0.29044	0.460000	0.39030	CAG		0.542	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		11	160	1	0	1.08611e-07	1	1.12939e-07	11	160				
SGCE	8910	broad.mit.edu	37	7	94257604	94257604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94257604C>T	ENST00000265735.7	-	3	410	c.300G>A	c.(298-300)tgG>tgA	p.W100*	SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000415788.2_Nonsense_Mutation_p.W136*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	100			W -> G (in DYT11). {ECO:0000269|PubMed:18362280}.		cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATATCGAAGCCATCCAGGTC	0.393																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	GRCh37	CM061979	SGCE	M		c.(406-408)tgG>tgA		sarcoglycan, epsilon							92.0	84.0	87.0					7																	94257604		2203	4299	6502	SO:0001587	stop_gained	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94257604C>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.300G>A	7.37:g.94257604C>T	ENSP00000265735:p.Trp100*					SGCE_ENST00000265735.7_Nonsense_Mutation_p.W100*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*	p.W136*			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	495	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		100					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Nonsense_Mutation	SNP	ENST00000265735.7	37	c.408G>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419078	0.96092	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8144	19.7702	0.96361	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;59;100;100;136	.	ENSP00000265735:W100X	W	-	3	0	SGCE	94095540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.749000	0.94314	0.650000	0.86243	TGG		0.393	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			37	133	0	0	0	1	0	37	133				
DTL	51514	broad.mit.edu	37	1	212251574	212251574	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212251574T>G	ENST00000366991.4	+	12	1409	c.1095T>G	c.(1093-1095)tcT>tcG	p.S365S	MIR3122_ENST00000577243.1_RNA|DTL_ENST00000542077.1_Silent_p.S323S|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	365					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AGGTCACGTCTGTGTGCTGGT	0.413																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1093-1095)tcT>tcG		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							147.0	132.0	137.0					1																	212251574		2203	4300	6503	SO:0001819	synonymous_variant	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212251574T>G	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1095T>G	1.37:g.212251574T>G						DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.S323S	p.S365S	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	12	1409	+			365					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Silent	SNP	ENST00000366991.4	37	c.1095T>G	CCDS1502.1																																																																																				0.413	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		88	310	0	0	0	1	0	88	310				
NOL4	8715	broad.mit.edu	37	18	31463241	31463241	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31463241C>G	ENST00000261592.5	-	10	1987	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	NOL4_ENST00000535475.1_Missense_Mutation_p.G345R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000535384.1_Missense_Mutation_p.G279R|NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	564						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTAGCAGACCCCCTCCTAGC	0.408																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1690-1692)Ggt>Cgt		nucleolar protein 4							187.0	164.0	172.0					18																	31463241		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31463241C>G	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1690G>C	18.37:g.31463241C>G	ENSP00000261592:p.Gly564Arg					NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000535384.1_Missense_Mutation_p.G279R|NOL4_ENST00000535475.1_Missense_Mutation_p.G345R	p.G564R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			10	1987	-			564					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1690G>C	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338414	0.81911	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.7	5.7	0.88788	.	0.077818	0.53938	D	0.000046	T	0.73745	0.3626	L	0.43152	1.355	0.53688	D	0.999978	P;P;P;B;D;D	0.89917	0.73;0.773;0.773;0.435;1.0;0.988	B;B;B;B;D;P	0.87578	0.316;0.316;0.232;0.157;0.998;0.824	T	0.67711	-0.5600	9	0.25751	T	0.34	-13.3835	19.8045	0.96525	0.0:1.0:0.0:0.0	.	279;490;564;279;462;345	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	R	564;348;279;345;490	.	ENSP00000261592:G564R	G	-	1	0	NOL4	29717239	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.639000	0.67868	2.676000	0.91093	0.563000	0.77884	GGT		0.408	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		65	997	0	0	0	1	0	65	997				
NES	10763	broad.mit.edu	37	1	156641102	156641102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641102C>A	ENST00000368223.3	-	4	3010	c.2878G>T	c.(2878-2880)Gaa>Taa	p.E960*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	960	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGCCAGTTCTTGGTCCTTC	0.567																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2878-2880)Gaa>Taa		nestin							198.0	210.0	206.0					1																	156641102		2203	4300	6503	SO:0001587	stop_gained	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641102C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2878G>T	1.37:g.156641102C>A	ENSP00000357206:p.Glu960*						p.E960*	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	3010	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		960			Tail.		O00552|Q3LIF5|Q5SYZ6	Nonsense_Mutation	SNP	ENST00000368223.3	37	c.2878G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	39	7.592787	0.98378	.	.	ENSG00000132688	ENST00000368223	.	.	.	5.22	5.22	0.72569	.	0.255042	0.20715	N	0.087003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.3428	0.87301	0.0:1.0:0.0:0.0	.	.	.	.	X	960	.	ENSP00000357206:E960X	E	-	1	0	NES	154907726	0.046000	0.20272	0.009000	0.14445	0.016000	0.09150	3.680000	0.54641	2.454000	0.82982	0.563000	0.77884	GAA		0.567	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		125	1368	1	0	4.8811e-34	1	5.79764e-34	125	1368				
CDHR1	92211	broad.mit.edu	37	10	85974159	85974159	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974159C>A	ENST00000372117.3	+	17	2465	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	788	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAGCTCTCTGCTCCCGAGAGC	0.592																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2362-2364)Ctc>Atc		cadherin-related family member 1							88.0	85.0	86.0					10																	85974159		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974159C>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2362C>A	10.37:g.85974159C>A	ENSP00000361189:p.Leu788Ile					CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I|CDHR1_ENST00000332904.3_Intron	p.L788I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2465	+			788			Pro-rich.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2362C>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127601	0.37533	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56275	0.63;0.47	5.49	3.6	0.41247	.	0.193736	0.56097	D	0.000028	T	0.32224	0.0822	N	0.14661	0.345	0.21220	N	0.999757	B;B	0.18610	0.001;0.029	B;B	0.13407	0.0;0.009	T	0.14200	-1.0481	10	0.16896	T	0.51	-21.5171	11.5494	0.50713	0.1411:0.7231:0.1357:0.0	.	492;788	E7EN47;Q96JP9	.;CDHR1_HUMAN	I	788;492	ENSP00000361189:L788I;ENSP00000415980:L492I	ENSP00000361189:L788I	L	+	1	0	CDHR1	85964139	0.501000	0.26099	0.518000	0.27811	0.416000	0.31233	2.253000	0.43205	0.653000	0.30826	0.591000	0.81541	CTC		0.592	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		85	723	1	0	7.68447e-34	1	9.12355e-34	85	723				
ZNF80	7634	broad.mit.edu	37	3	113955909	113955909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113955909G>A	ENST00000482457.2	-	1	516	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R5>?(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AACCCATCGCGTTTAGGGCTC	0.542																																					GBM(23;986 1114 21716)	ENST00000482457.2																			1	Complex(1)	p.R5>?(1)	large_intestine(1)	NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(13-15)Cgc>Tgc		zinc finger protein 80							88.0	90.0	89.0					3																	113955909		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955909G>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.13C>T	3.37:g.113955909G>A	ENSP00000417192:p.Arg5Cys						p.R5C	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	516	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	5					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.13C>T	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134667	0.09032	.	.	ENSG00000174255	ENST00000482457	T	0.22743	1.94	2.44	-1.91	0.07641	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40098	-0.9581	9	0.02654	T	1	.	8.0728	0.30699	0.7061:0.0:0.2939:0.0	.	5	P51504	ZNF80_HUMAN	C	5	ENSP00000417192:R5C	ENSP00000309812:R5C	R	-	1	0	ZNF80	115438599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.760000	0.00786	-0.552000	0.06167	-0.355000	0.07637	CGC		0.542	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		100	386	0	0	0	1	0	100	386				
TECR	9524	broad.mit.edu	37	19	14676616	14676616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676616G>A	ENST00000215567.5	+	13	997	c.860G>A	c.(859-861)cGc>cAc	p.R287H	TECR_ENST00000436007.2_Missense_Mutation_p.R302H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H|TECR_ENST00000600083.1_Missense_Mutation_p.R132H	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	287					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						GGCAAGCACCGCAGCTACCTG	0.662																																						ENST00000600083.1																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(394-396)cGc>cAc		trans-2,3-enoyl-CoA reductase							15.0	15.0	15.0					19																	14676616		2192	4285	6477	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14676616G>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.860G>A	19.37:g.14676616G>A	ENSP00000215567:p.Arg287His					TECR_ENST00000215567.5_Missense_Mutation_p.R287H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H|TECR_ENST00000436007.2_Missense_Mutation_p.R302H	p.R132H			Q9NZ01	TECR_HUMAN			13	1028	+			287					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.395G>A	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180606	0.57800	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.30981	1.51;1.51	4.67	4.67	0.58626	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.82323	2.585	0.80722	D	1	B;B;B	0.27140	0.058;0.169;0.058	B;B;B	0.19946	0.027;0.027;0.027	T	0.43877	-0.9364	10	0.62326	D	0.03	-19.4336	15.0436	0.71811	0.0:0.0:1.0:0.0	.	287;302;287	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	H	287;302	ENSP00000215567:R287H;ENSP00000397206:R302H	ENSP00000215567:R287H	R	+	2	0	TECR	14537616	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.225000	0.78051	2.158000	0.67659	0.289000	0.19496	CGC		0.662	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		16	72	0	0	0	1	0	16	72				
STEAP2	261729	broad.mit.edu	37	7	89861731	89861731	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861731G>A	ENST00000287908.3	+	5	1659	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000394622.2_Silent_p.E422E	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	422					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTGAGGAAGAGTACTACAGAT	0.388																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(1264-1266)gaG>gaA		STEAP family member 2, metalloreductase							125.0	120.0	122.0					7																	89861731		2203	4300	6503	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89861731G>A	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1266G>A	7.37:g.89861731G>A						STEAP2_ENST00000394622.2_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394632.1_Intron	p.E422E	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			5	1659	+	all_hematologic(106;0.112)		422					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.1266G>A	CCDS5615.1																																																																																				0.388	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		10	171	0	0	0	1	0	10	171				
ASCC3	10973	broad.mit.edu	37	6	101215160	101215160	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101215160T>C	ENST00000369162.2	-	9	1801	c.1457A>G	c.(1456-1458)gAg>gGg	p.E486G	ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	486	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAGGCAGTCTCAAACACTAT	0.398																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(1456-1458)gAg>gGg		activating signal cointegrator 1 complex subunit 3							178.0	162.0	167.0					6																	101215160		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101215160T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1457A>G	6.37:g.101215160T>C	ENSP00000358159:p.Glu486Gly					ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	p.E486G	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	9	1801	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	486			Helicase ATP-binding 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1457A>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472368	0.63737	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.15952	2.38;2.38	5.25	5.25	0.73442	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.117651	0.56097	D	0.000029	T	0.17023	0.0409	M	0.83603	2.65	0.80722	D	1	B;B	0.33940	0.183;0.433	B;B	0.35353	0.184;0.201	T	0.02257	-1.1187	10	0.52906	T	0.07	.	15.4376	0.75157	0.0:0.0:0.0:1.0	.	486;486	E7EW23;Q8N3C0	.;HELC1_HUMAN	G	486	ENSP00000358159:E486G;ENSP00000430769:E486G	ENSP00000358159:E486G	E	-	2	0	ASCC3	101321881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	2.122000	0.65172	0.482000	0.46254	GAG		0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		107	496	0	0	0	1	0	107	496				
SYT9	143425	broad.mit.edu	37	11	7441783	7441783	+	Missense_Mutation	SNP	G	G	A	rs140525588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7441783G>A	ENST00000318881.6	+	6	1621	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	462					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGGCAACGAGGCTGAGAGGCT	0.468																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1384-1386)Gct>Act		synaptotagmin IX							174.0	149.0	157.0					11																	7441783		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7441783G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1384G>A	11.37:g.7441783G>A	ENSP00000324419:p.Ala462Thr						p.A462T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	6	1621	+			462						Missense_Mutation	SNP	ENST00000318881.6	37	c.1384G>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650448	0.87958	.	.	ENSG00000170743	ENST00000318881	T	0.71341	-0.56	5.64	4.72	0.59763	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000026	T	0.74222	0.3688	L	0.51853	1.615	0.80722	D	1	P	0.45569	0.861	P	0.51701	0.677	T	0.76130	-0.3072	10	0.59425	D	0.04	.	13.7524	0.62915	0.0:0.0:0.845:0.1549	.	462	Q86SS6	SYT9_HUMAN	T	462	ENSP00000324419:A462T	ENSP00000324419:A462T	A	+	1	0	SYT9	7398359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.644000	0.74338	1.361000	0.45981	0.655000	0.94253	GCT		0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		80	344	0	0	0	1	0	80	344				
DYNC2H1	79659	broad.mit.edu	37	11	103093703	103093703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103093703C>T	ENST00000375735.2	+	59	9385	c.9241C>T	c.(9241-9243)Cgt>Tgt	p.R3081C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3081	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAATGCTAAGCGTGCCAGTAC	0.398																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(9241-9243)Cgt>Tgt		dynein, cytoplasmic 2, heavy chain 1							90.0	87.0	88.0					11																	103093703		1882	4113	5995	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103093703C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9241C>T	11.37:g.103093703C>T	ENSP00000364887:p.Arg3081Cys					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C	p.R3081C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	59	9385	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3081			Stalk (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.9241C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222317	0.79464	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74421	-0.84;-0.84	5.92	5.92	0.95590	Dynein heavy chain, coiled coil stalk (1);	0.060551	0.64402	D	0.000004	D	0.88570	0.6472	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90260	0.4300	10	0.87932	D	0	.	13.706	0.62639	0.2692:0.7308:0.0:0.0	.	3081;3081	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	3081	ENSP00000364887:R3081C;ENSP00000381167:R3081C	ENSP00000364887:R3081C	R	+	1	0	DYNC2H1	102598913	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.409000	0.52657	2.809000	0.96659	0.655000	0.94253	CGT		0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		40	232	0	0	0	1	0	40	232				
PTPRM	5797	broad.mit.edu	37	18	8113534	8113534	+	Missense_Mutation	SNP	C	C	T	rs201745703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8113534C>T	ENST00000332175.8	+	12	2944	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M|PTPRM_ENST00000578571.1_3'UTR	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	636	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTAAAAAGACGACAGAAATC	0.388																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1906-1908)aCg>aTg		protein tyrosine phosphatase, receptor type, M							104.0	99.0	100.0					18																	8113534		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8113534C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1907C>T	18.37:g.8113534C>T	ENSP00000331418:p.Thr636Met					PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M	p.T636M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			12	2944	+		Colorectal(10;0.234)	636			Fibronectin type-III 4.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1907C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138704	0.77775	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.48201	1.14;1.14;0.97;0.82	5.84	5.84	0.93424	Fibronectin, type III (1);	0.158718	0.56097	D	0.000036	T	0.57873	0.2083	L	0.40543	1.245	0.58432	D	0.999999	D;P;P	0.67145	0.996;0.776;0.776	P;B;B	0.57204	0.815;0.34;0.34	T	0.55398	-0.8147	10	0.51188	T	0.08	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	423;636;636	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	M	636;636;574;423	ENSP00000331418:T636M;ENSP00000382933:T636M;ENSP00000382927:T574M;ENSP00000387608:T423M	ENSP00000331418:T636M	T	+	2	0	PTPRM	8103534	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.487000	0.81328	2.764000	0.94973	0.650000	0.86243	ACG		0.388	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			67	291	0	0	0	1	0	67	291				
LRRC71	149499	broad.mit.edu	37	1	156897380	156897380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156897380G>A	ENST00000337428.7	+	7	909	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	252										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGCTGCAACCGGACCCTCGTC	0.652											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337428.7																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(754-756)cGg>cAg		leucine rich repeat containing 71							16.0	19.0	18.0					1																	156897380		2076	4204	6280	SO:0001583	missense	149499							g.chr1:156897380G>A	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.755G>A	1.37:g.156897380G>A	ENSP00000336661:p.Arg252Gln		OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	LRRC71_ENST00000490146.1_3'UTR	p.R252Q	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN			7	909	+			252					Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.755G>A	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083880	0.55861	.	.	ENSG00000160838	ENST00000337428	T	0.61980	0.06	4.48	3.53	0.40419	.	0.169451	0.28349	N	0.015667	T	0.14356	0.0347	N	0.03154	-0.405	0.28084	N	0.932077	B;B	0.30584	0.216;0.286	B;B	0.26094	0.066;0.057	T	0.06661	-1.0814	10	0.30078	T	0.28	-18.1532	6.3106	0.21163	0.2335:0.0:0.7665:0.0	.	252;37	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	Q	252	ENSP00000336661:R252Q	ENSP00000336661:R252Q	R	+	2	0	LRRC71	155164004	0.997000	0.39634	0.914000	0.36105	0.859000	0.49053	3.162000	0.50755	1.064000	0.40671	0.455000	0.32223	CGG		0.652	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		15	96	0	0	0	1	0	15	96				
POP1	10940	broad.mit.edu	37	8	99142303	99142303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99142303G>A	ENST00000401707.2	+	5	665	c.584G>A	c.(583-585)aGa>aAa	p.R195K	POP1_ENST00000349693.3_Missense_Mutation_p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	195					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTAACCGTAGACAAAAGAAG	0.443																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(583-585)aGa>aAa		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							68.0	65.0	66.0					8																	99142303		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142303G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.584G>A	8.37:g.99142303G>A	ENSP00000385787:p.Arg195Lys					POP1_ENST00000349693.3_Missense_Mutation_p.R195K	p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	665	+	Breast(36;1.78e-06)		195					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.584G>A	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679774	0.96774	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.59502	0.26;0.26	5.81	5.81	0.92471	Ribonuclease P/MRP, subunit POP1 (1);	0.133902	0.46145	D	0.000318	T	0.73931	0.3650	M	0.66297	2.02	0.54753	D	0.999988	D	0.54207	0.965	D	0.66497	0.944	T	0.71768	-0.4493	9	.	.	.	0.8959	17.8794	0.88835	0.0:0.0:1.0:0.0	.	195	Q99575	POP1_HUMAN	K	195	ENSP00000385787:R195K;ENSP00000339529:R195K	.	R	+	2	0	POP1	99211479	1.000000	0.71417	0.848000	0.33437	0.953000	0.61014	9.869000	0.99810	2.746000	0.94184	0.591000	0.81541	AGA		0.443	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		59	268	0	0	0	1	0	59	268				
APPL2	55198	broad.mit.edu	37	12	105582102	105582102	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105582102T>G	ENST00000258530.3	-	17	1808	c.1583A>C	c.(1582-1584)aAc>aCc	p.N528T	APPL2_ENST00000551662.1_Missense_Mutation_p.N534T|APPL2_ENST00000539978.2_Missense_Mutation_p.N485T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	448					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCGGAAGATGTTATGAATAGC	0.413																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1582-1584)aAc>aCc		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							156.0	138.0	144.0					12																	105582102		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105582102T>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1583A>C	12.37:g.105582102T>G	ENSP00000258530:p.Asn528Thr					APPL2_ENST00000539978.2_Missense_Mutation_p.N485T|APPL2_ENST00000551662.1_Missense_Mutation_p.N534T	p.N528T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			17	1808	-			528			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1583A>C	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283074	0.80803	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.36	5.36	0.76844	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.77103	2.36	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.83275	0.996;0.993;0.996	T	0.53795	-0.8388	10	0.87932	D	0	-27.8493	15.3491	0.74368	0.0:0.0:0.0:1.0	.	534;485;528	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	T	528;485;534;59	ENSP00000258530:N528T;ENSP00000444472:N485T;ENSP00000446917:N534T;ENSP00000446510:N59T	ENSP00000258530:N528T	N	-	2	0	APPL2	104106232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.024000	0.59613	0.523000	0.50628	AAC		0.413	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		99	426	0	0	0	1	0	99	426				
KRT16P2	400578	broad.mit.edu	37	17	16735579	16735579	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16735579C>A	ENST00000579062.1	-	0	309									keratin 16 pseudogene 2																		GGACTGCAGTCTTTGATCTCA	0.582																																						ENST00000579062.1																			0																																																			0							g.chr17:16735579C>A			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16735579C>A														0	309	-									RNA	SNP	ENST00000579062.1	37																																																																																						0.582	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		144	793	1	0	7.92475e-56	1	9.91165e-56	144	793				
SLC8A1	6546	broad.mit.edu	37	2	40655686	40655686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:40655686C>A	ENST00000403092.1	-	2	1768	c.1735G>T	c.(1735-1737)Ggg>Tgg	p.G579W	SLC8A1_ENST00000406785.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	579	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGGCAGTCCCTTCGATGGTT	0.428																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1735-1737)Ggg>Tgg		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						97.0	100.0	99.0					2																	40655686		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655686C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1735G>T	2.37:g.40655686C>A	ENSP00000384763:p.Gly579Trp					SLC8A1_ENST00000403092.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W	p.G579W			P32418	NAC1_HUMAN			2	1924	-			579			Calx-beta 2.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1735G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471845	0.63737	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.87	5.87	0.94306	Na-Ca exchanger/integrin-beta4 (2);	0.042921	0.85682	D	0.000000	T	0.80879	0.4708	H	0.97491	4.015	0.80722	D	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;0.997;1.0;1.0;1.0	D	0.86691	0.1923	10	0.87932	D	0	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	579;579;579;579;579	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	W	579	ENSP00000383886:G579W;ENSP00000440727:G579W;ENSP00000384763:G579W;ENSP00000385678:G579W;ENSP00000385188:G579W;ENSP00000385535:G579W;ENSP00000332931:G579W;ENSP00000384908:G579W;ENSP00000385811:G579W;ENSP00000443515:G579W	ENSP00000332931:G579W	G	-	1	0	SLC8A1	40509190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	GGG		0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		10	497	1	0	7.48243e-07	1	7.73841e-07	10	497				
ACAN	176	broad.mit.edu	37	15	89400789	89400789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400789C>T	ENST00000561243.1	+	11	4973	c.4973C>T	c.(4972-4974)aCt>aTt	p.T1658I	ACAN_ENST00000559004.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000439576.2_Missense_Mutation_p.T1658I			P16112	PGCA_HUMAN	aggrecan	1699	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGATTCCCAACTGTTTCCCTA	0.532																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4972-4974)aCt>aTt		aggrecan							144.0	145.0	144.0					15																	89400789		1953	4132	6085	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400789C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4973C>T	15.37:g.89400789C>T	ENSP00000453342:p.Thr1658Ile					ACAN_ENST00000559004.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000561243.1_Missense_Mutation_p.T1658I	p.T1658I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5347	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1658					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4973C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956519	0.73902	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03607	4.13;3.87	5.86	5.86	0.93980	.	0.000000	0.33553	N	0.004785	T	0.22044	0.0531	M	0.82823	2.61	0.36779	D	0.884243	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01298	-1.1392	10	0.45353	T	0.12	-19.2149	19.1747	0.93599	0.0:1.0:0.0:0.0	.	1658;1658	E7ENV9;E7EX88	.;.	I	1658;1658;1544	ENSP00000387356:T1658I;ENSP00000341615:T1658I	ENSP00000268134:T1544I	T	+	2	0	ACAN	87201793	0.992000	0.36948	0.973000	0.42090	0.998000	0.95712	3.920000	0.56446	2.775000	0.95449	0.655000	0.94253	ACT		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		118	582	0	0	0	1	0	118	582				
DAG1	1605	broad.mit.edu	37	3	49569067	49569067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49569067G>A	ENST00000539901.1	+	3	1681	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	DAG1_ENST00000515359.2_Missense_Mutation_p.A375T|DAG1_ENST00000545947.1_Missense_Mutation_p.A375T|DAG1_ENST00000308775.2_Missense_Mutation_p.A375T|DAG1_ENST00000541308.1_Missense_Mutation_p.A375T|DAG1_ENST00000538711.1_Missense_Mutation_p.A375T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	375	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GACTCGAGGCGCCATTATTCA	0.592																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(1123-1125)Gcc>Acc		dystroglycan 1 (dystrophin-associated glycoprotein 1)							99.0	104.0	102.0					3																	49569067		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49569067G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1123G>A	3.37:g.49569067G>A	ENSP00000439334:p.Ala375Thr					DAG1_ENST00000538711.1_Missense_Mutation_p.A375T|DAG1_ENST00000539901.1_Missense_Mutation_p.A375T|DAG1_ENST00000515359.2_Missense_Mutation_p.A375T|DAG1_ENST00000308775.2_Missense_Mutation_p.A375T|DAG1_ENST00000541308.1_Missense_Mutation_p.A375T	p.A375T	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1845	+			375			Mucin-like domain.|Required for laminin recognition.|Thr-rich.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.1123G>A	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651398	0.67472	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.74	5.74	0.90152	.	0.152399	0.64402	D	0.000014	T	0.34687	0.0906	L	0.29908	0.895	0.36969	D	0.893748	P	0.36909	0.573	B	0.26693	0.072	T	0.32241	-0.9914	9	.	.	.	-29.9484	18.6912	0.91583	0.0:0.0:1.0:0.0	.	375	Q14118	DAG1_HUMAN	T	375	ENSP00000440705:A375T;ENSP00000312435:A375T;ENSP00000442600:A375T;ENSP00000440590:A375T;ENSP00000439334:A375T;ENSP00000438421:A375T	.	A	+	1	0	DAG1	49544071	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.646000	0.46630	2.702000	0.92279	0.655000	0.94253	GCC		0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			145	563	0	0	0	1	0	145	563				
C22orf29	79680	broad.mit.edu	37	22	19838878	19838878	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19838878G>T	ENST00000405640.1	-	2	1575	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|GNB1L_ENST00000329517.6_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	303	Pro-rich.				mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GACTCCGACAGTCTAGGGACA	0.597																																						ENST00000405640.1																			0				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(907-909)Ctg>Atg		chromosome 22 open reading frame 29							56.0	54.0	54.0					22																	19838878		2203	4300	6503	SO:0001583	missense	79680							g.chr22:19838878G>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.907C>A	22.37:g.19838878G>T	ENSP00000384924:p.Leu303Met					C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron	p.L303M			Q7L3V2	CV029_HUMAN			2	1575	-	Colorectal(54;0.0993)		303			Pro-rich.		A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.907C>A	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456317	0.26161	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.26223	1.75;1.75;1.75	3.8	-1.02	0.10135	.	.	.	.	.	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	P	0.45681	0.49	T	0.11084	-1.0602	9	0.62326	D	0.03	.	1.3263	0.02126	0.2023:0.1685:0.4561:0.1731	.	303	Q7L3V2	CV029_HUMAN	M	303	ENSP00000386111:L303M;ENSP00000330596:L303M;ENSP00000384924:L303M	ENSP00000330596:L303M	L	-	1	2	C22orf29	18218878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.014000	0.12656	-0.058000	0.13177	0.650000	0.86243	CTG		0.597	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		51	216	1	0	3.10996e-30	1	3.64561e-30	51	216				
LRRC4B	94030	broad.mit.edu	37	19	51021716	51021716	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021716G>A	ENST00000599957.1	-	3	1451	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	LRRC4B_ENST00000389201.3_Silent_p.D418D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	418	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TAAGCGTGCCGTCATGCAGGA	0.652																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1252-1254)gaC>gaT		leucine rich repeat containing 4B							64.0	73.0	70.0					19																	51021716		2196	4278	6474	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021716G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1254C>T	19.37:g.51021716G>A						LRRC4B_ENST00000389201.3_Silent_p.D418D	p.D418D			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1451	-		all_neural(266;0.131)	418			Ig-like C2-type.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1254C>T	CCDS42595.1																																																																																				0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		51	264	0	0	0	1	0	51	264				
C1S	716	broad.mit.edu	37	12	7169900	7169900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7169900G>T	ENST00000406697.1	+	6	755	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*|C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*			P09871	C1S_HUMAN	complement component 1, s subcomponent	43	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGGGACATAGAAGTTCCTGA	0.473																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(127-129)Gaa>Taa		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						145.0	136.0	139.0					12																	7169900		2203	4300	6503	SO:0001587	stop_gained	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7169900G>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.127G>T	12.37:g.7169900G>T	ENSP00000385035:p.Glu43*					C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*|C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*|C1S_ENST00000402681.3_Intron	p.E43*			P09871	C1S_HUMAN			6	755	+			43			CUB 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Nonsense_Mutation	SNP	ENST00000406697.1	37	c.127G>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	41	8.566988	0.98866	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000423384;ENST00000413211;ENST00000403949	.	.	.	5.77	3.45	0.39498	.	0.000000	0.43919	D	0.000504	.	.	.	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.3174	0.11000	0.089:0.2754:0.5153:0.1204	.	.	.	.	X	43;43;43;25;43;43;43	.	ENSP00000328173:E43X	E	+	1	0	C1S	7040161	0.002000	0.14202	0.996000	0.52242	0.976000	0.68499	0.258000	0.18387	2.724000	0.93272	0.561000	0.74099	GAA		0.473	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		63	361	1	0	5.10652e-33	1	6.04401e-33	63	361				
MECOM	2122	broad.mit.edu	37	3	169381144	169381144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169381144C>T	ENST00000494292.1	-	1	114	c.17G>A	c.(16-18)aGg>aAg	p.R6K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	6					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCCTTGCCCTGCCTTTGGA	0.532																																						ENST00000494292.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(16-18)aGg>aAg		MDS1 and EVI1 complex locus							94.0	107.0	103.0					3																	169381144		2024	4178	6202	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:169381144C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.17G>A	3.37:g.169381144C>T	ENSP00000417899:p.Arg6Lys					MECOM_ENST00000485957.1_5'UTR	p.R6K	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN			1	114	-			6					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000494292.1	37	c.17G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.338064	0.81911	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T	0.06608	3.28	4.75	4.75	0.60458	.	.	.	.	.	T	0.19087	0.0458	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.83275	0.996;0.953	T	0.00958	-1.1500	9	0.87932	D	0	.	18.135	0.89616	0.0:1.0:0.0:0.0	.	6;6	Q13465;Q03112-3	MDS1_HUMAN;.	K	6	ENSP00000417899:R6K	ENSP00000419537:R6K	R	-	2	0	MECOM	170863838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.959000	0.76031	2.370000	0.80446	0.455000	0.32223	AGG		0.532	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	NM_005241, NM_004991		14	64	0	0	0	1	0	14	64				
TPM3	7170	broad.mit.edu	37	1	154142946	154142946	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154142946C>A	ENST00000368530.2	-	8	898		c.e8-1		TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000469717.1_Splice_Site|TPM3_ENST00000302206.5_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000368533.3_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000271850.7_Splice_Site	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGGTCTCTGCCTGGGGGAAAT	0.448			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000368533.3				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.e7-1		tropomyosin 3							70.0	72.0	71.0					1																	154142946		2203	4300	6503	SO:0001630	splice_region_variant	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154142946C>A	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.706-1G>T	1.37:g.154142946C>A						TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000368530.2_Splice_Site|TPM3_ENST00000271850.7_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000302206.5_Splice_Site|TPM3_ENST00000469717.1_Splice_Site		NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN			7	647	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)							D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Splice_Site	SNP	ENST00000368530.2	37		CCDS41403.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107705	0.77096	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1897	0.89803	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPM3	152409570	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.616000	0.83018	2.601000	0.87937	0.563000	0.77884	.		0.448	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263	Intron	14	530	1	0	2.31682e-05	1	2.36778e-05	14	530				
EPG5	57724	broad.mit.edu	37	18	43508880	43508880	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43508880G>A	ENST00000282041.5	-	13	2542	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	836					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCAGAAGGACGGAAATTATCT	0.398																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(2506-2508)tcC>tcT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							110.0	103.0	105.0					18																	43508880		1857	4099	5956	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43508880G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2508C>T	18.37:g.43508880G>A							p.S836S	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			13	2542	-			836					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.2508C>T	CCDS11926.2																																																																																				0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		74	359	0	0	0	1	0	74	359				
SSPO	23145	broad.mit.edu	37	7	149499027	149499027	+	RNA	SNP	G	G	A	rs147684856	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149499027G>A	ENST00000378016.2	+	0	7479							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGACGAGGATG	0.697													G|||	3	0.000599042	0.0	0.0029	5008	,	,		16638	0.0		0.001	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin		G		1,4255		0,1,2127	20.0	22.0	22.0		7483	-8.7	0.0	7	dbSNP_134	22	7,8437		0,7,4215	yes	coding-notMod3	SSPO	NM_198455.2		0,8,6342	AA,AG,GG		0.0829,0.0235,0.063			149499027	8,12692	2128	4222	6350			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149499027G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149499027G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7479	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				20	132	0	0	0	1	0	20	132				
ICE1	23379	broad.mit.edu	37	5	5463972	5463972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463972C>T	ENST00000296564.7	+	13	4747	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1509					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATAAGAGTCGTTTGCGAAA	0.428																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4525-4527)Cgt>Tgt		KIAA0947							51.0	49.0	49.0					5																	5463972		1908	4117	6025	SO:0001583	missense	23379							g.chr5:5463972C>T																												ENST00000296564.7:c.4525C>T	5.37:g.5463972C>T	ENSP00000296564:p.Arg1509Cys						p.R1509C	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	4747	+			1509					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4525C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527259	0.64860	.	.	ENSG00000164151	ENST00000296564	T	0.12569	2.67	5.38	3.42	0.39159	.	.	.	.	.	T	0.07999	0.0200	L	0.27053	0.805	0.26004	N	0.982075	P	0.40534	0.72	B	0.34873	0.191	T	0.13361	-1.0512	9	0.37606	T	0.19	-10.3331	5.3434	0.15996	0.2153:0.6816:0.0:0.1031	.	1509	Q9Y2F5	K0947_HUMAN	C	1509	ENSP00000296564:R1509C	ENSP00000296564:R1509C	R	+	1	0	KIAA0947	5516972	0.000000	0.05858	0.578000	0.28575	0.986000	0.74619	0.450000	0.21762	2.524000	0.85096	0.460000	0.39030	CGT		0.428	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			35	148	0	0	0	1	0	35	148				
MIR146B	574447	broad.mit.edu	37	10	104196306	104196306	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104196306C>A	ENST00000365699.2	+	0	38					NR_030169.1				microRNA 146b																		GCTGTGAGCTCTAGCAATGCC	0.557																																						ENST00000365699.2																			0																				60.0	56.0	57.0					10																	104196306		1568	3582	5150			0							g.chr10:104196306C>A			10q24.32	2011-09-12		2008-12-18	ENSG00000202569	ENSG00000202569		"""ncRNAs / Micro RNAs"""	32079	non-coding RNA	RNA, micro		610567		MIRN146B			Standard	NR_030169		Approved	hsa-mir-146b	uc021pxj.1				10.37:g.104196306C>A								NR_030169.1						0	38	+									RNA	SNP	ENST00000365699.2	37																																																																																						0.557	MIR146B-201	KNOWN	basic	miRNA	miRNA		NR_030169		6	116	1	0	5.18039e-06	1	5.32547e-06	6	116				
METTL2B	55798	broad.mit.edu	37	7	128119557	128119557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119557G>A	ENST00000262432.8	+	3	585	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	METTL2B_ENST00000480046.1_Missense_Mutation_p.R118Q|METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	183					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCACCTACCGAATACTGGAG	0.413																																						ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(352-354)cGa>cAa		methyltransferase like 2B							67.0	75.0	72.0					7																	128119557		2182	4278	6460	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119557G>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.548G>A	7.37:g.128119557G>A	ENSP00000262432:p.Arg183Gln					METTL2B_ENST00000262432.8_Missense_Mutation_p.R183Q|METTL2B_ENST00000473488.1_3'UTR	p.R118Q			Q6P1Q9	MTL2B_HUMAN			2	468	+			183					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.353G>A	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382232	0.61845	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.16743	3.45;2.32;2.32	2.52	1.62	0.23740	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	M	0.80332	2.49	0.48341	D	0.999634	D;D	0.76494	0.997;0.999	P;D	0.66979	0.875;0.948	T	0.07751	-1.0756	10	0.59425	D	0.04	0.0705	7.4037	0.26979	0.1419:0.0:0.8581:0.0	.	118;183	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	Q	177;183;118	ENSP00000418634:R177Q;ENSP00000262432:R183Q;ENSP00000418402:R118Q	ENSP00000262432:R183Q	R	+	2	0	METTL2B	127906793	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.022000	0.93678	0.407000	0.25591	-1.038000	0.02383	CGA		0.413	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		19	287	0	0	0	1	0	19	287				
TTN	7273	broad.mit.edu	37	2	179612429	179612429	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179612429C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.E4900*			Q8WZ42	TITIN_HUMAN	titin						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)			GTCTCAGATTCTGCTGCCTCA	0.413																																						ENST00000360870.5																			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.(14698-14700)Gaa>Taa		titin							68.0	69.0	69.0					2																	179612429		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612429C>A	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.10360+5421G>T	2.37:g.179612429C>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.E4900*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14920	-			1023			Ig-like 29.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.14698G>T		.	.	.	.	.	.	.	.	.	.	C	55	24.574007	0.99961	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	.	.	.	5.75	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.43835	D	0.99641	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.9423	0.58352	0.0:0.9241:0.0:0.0759	.	.	.	.	X	4900;214	.	ENSP00000304714:E214X	E	-	1	0	TTN	179320674	0.048000	0.20356	0.003000	0.11579	0.122000	0.20287	1.568000	0.36418	1.561000	0.49584	0.650000	0.86243	GAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		100	285	1	0	1.43697e-34	1	1.7097e-34	100	285				
EPPK1	83481	broad.mit.edu	37	8	144943253	144943253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144943253C>T	ENST00000525985.1	-	2	4240	c.4169G>A	c.(4168-4170)aGc>aAc	p.S1390N				P58107	EPIPL_HUMAN	epiplakin 1	1390						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCACCTGGCTCGTCTGTGT	0.647																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4168-4170)aGc>aAc		epiplakin 1							22.0	27.0	25.0					8																	144943253		2177	4268	6445	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943253C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4169G>A	8.37:g.144943253C>T	ENSP00000436337:p.Ser1390Asn						p.S1390N			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4240	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1390					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4169G>A		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.287631	0.00248	.	.	ENSG00000227184	ENST00000525985	T	0.73152	-0.72	4.66	-2.64	0.06114	.	.	.	.	.	T	0.39462	0.1079	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	9	0.22706	T	0.39	.	0.3204	0.00302	0.2544:0.2566:0.2497:0.2394	.	1390	E9PPU0	.	N	1390	ENSP00000436337:S1390N	ENSP00000436337:S1390N	S	-	2	0	EPPK1	145015241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.140000	0.16056	-0.376000	0.07943	-0.137000	0.14449	AGC		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		41	157	0	0	0	1	0	41	157				
MICAL1	64780	broad.mit.edu	37	6	109765460	109765460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109765460G>A	ENST00000358807.3	-	25	3449	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A	MICAL1_ENST00000358577.3_Silent_p.A960A|MICAL1_ENST00000368952.4_Silent_p.A1065A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1046					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCGGATGAGGGCATCTCTCT	0.587																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3193-3195)gcC>gcT		microtubule associated monooxygenase, calponin and LIM domain containing 1							39.0	40.0	40.0					6																	109765460		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109765460G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3138C>T	6.37:g.109765460G>A						MICAL1_ENST00000358807.3_Silent_p.A1046A|MICAL1_ENST00000358577.3_Silent_p.A960A	p.A1065A			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	25	3485	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	1046					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.3195C>T	CCDS5076.1																																																																																				0.587	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		41	220	0	0	0	1	0	41	220				
PTPRT	11122	broad.mit.edu	37	20	40739056	40739056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40739056G>A	ENST00000373187.1	-	23	3170	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000373193.3_Silent_p.C1060C|PTPRT_ENST00000356100.2_Silent_p.C1066C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373198.4_Silent_p.C1076C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1057	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTGGCATAGCAGGGAACGC	0.597																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3235-3237)tgC>tgT		protein tyrosine phosphatase, receptor type, T							60.0	70.0	67.0					20																	40739056		1974	4138	6112	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40739056G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3171C>T	20.37:g.40739056G>A						PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000356100.2_Silent_p.C1066C|PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373193.3_Silent_p.C1060C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373187.1_Silent_p.C1057C	p.C1079C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			24	3472	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1057			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.3237C>T	CCDS42874.1																																																																																				0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			49	283	0	0	0	1	0	49	283				
SORCS1	114815	broad.mit.edu	37	10	108923970	108923970	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:108923970G>A	ENST00000263054.6	-	1	322	c.315C>T	c.(313-315)tcC>tcT	p.S105S	SORCS1_ENST00000344440.6_Silent_p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	105					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.S105S(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTCCGGCCGGAGCGTGCAG	0.701																																						ENST00000263054.6																			2	Substitution - coding silent(2)	p.S105S(2)	endometrium(2)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(313-315)tcC>tcT		sortilin-related VPS10 domain containing receptor 1							17.0	18.0	18.0					10																	108923970		2199	4297	6496	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923970G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.315C>T	10.37:g.108923970G>A						SORCS1_ENST00000344440.6_Silent_p.S105S	p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	322	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	105					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.315C>T	CCDS7559.1																																																																																				0.701	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		37	139	0	0	0	1	0	37	139				
MS4A6A	64231	broad.mit.edu	37	11	59949188	59949188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59949188G>A	ENST00000530839.1	-	3	505	c.13C>T	c.(13-15)Cct>Tct	p.P5S	MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000528851.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	5						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAACAGGTTGTGATGTC	0.443																																						ENST00000528851.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(13-15)Cct>Tct		membrane-spanning 4-domains, subfamily A, member 6A							214.0	191.0	199.0					11																	59949188		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59949188G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.13C>T	11.37:g.59949188G>A	ENSP00000436979:p.Pro5Ser					MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P5S	p.P5S			Q9H2W1	M4A6A_HUMAN			2	153	-			5					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.13C>T	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295355	0.40594	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023;ENST00000532169;ENST00000534596;ENST00000531531;ENST00000533409	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	3.75;3.76;3.08;3.75;3.68;2.85;3.69;1.79;2.19;2.1;1.63;-1.39	4.83	0.376	0.16193	.	1.549850	0.03654	N	0.241465	D	0.86456	0.5937	M	0.61703	1.905	0.09310	N	1	B;D;B;D;B	0.71674	0.01;0.998;0.037;0.997;0.018	B;D;B;P;B	0.66979	0.015;0.948;0.025;0.888;0.028	T	0.67337	-0.5696	9	.	.	.	.	5.6964	0.17857	0.19:0.4038:0.4062:0.0	.	5;33;33;5;5	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	S	5;5;5;5;33;5;33;5;5;33;33;5	ENSP00000315878:P5S;ENSP00000431901:P5S;ENSP00000392921:P5S;ENSP00000436979:P5S;ENSP00000435844:P33S;ENSP00000392770:P5S;ENSP00000403212:P33S;ENSP00000436172:P5S;ENSP00000431266:P5S;ENSP00000433436:P33S;ENSP00000433012:P33S;ENSP00000437152:P5S	.	P	-	1	0	MS4A6A	59705764	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.094000	0.12374	-0.136000	0.14681	CCT		0.443	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			133	672	0	0	0	1	0	133	672				
SNX31	169166	broad.mit.edu	37	8	101624274	101624274	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101624274G>T	ENST00000311812.2	-	7	715	c.565C>A	c.(565-567)Ctt>Att	p.L189I	SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	189					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAACTTCCAAGACTAACATAA	0.438																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(565-567)Ctt>Att		sorting nexin 31							90.0	89.0	90.0					8																	101624274		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101624274G>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.565C>A	8.37:g.101624274G>T	ENSP00000312368:p.Leu189Ile					SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	p.L189I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		7	715	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		189					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.565C>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310250	0.40895	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	T;T;T	0.49139	2.17;1.81;0.79	5.92	5.92	0.95590	.	0.114287	0.37955	N	0.001861	T	0.40473	0.1118	L	0.49455	1.56	0.33742	D	0.619597	P;P	0.48503	0.778;0.911	B;B	0.37989	0.262;0.232	T	0.53215	-0.8470	10	0.20046	T	0.44	-13.6554	15.8344	0.78787	0.0:0.0:1.0:0.0	.	90;189	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	189;90;123	ENSP00000312368:L189I;ENSP00000405024:L90I;ENSP00000428210:L123I	ENSP00000312368:L189I	L	-	1	0	SNX31	101693450	1.000000	0.71417	0.136000	0.22124	0.435000	0.31806	4.973000	0.63763	2.822000	0.97130	0.650000	0.86243	CTT		0.438	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		42	235	1	0	1.06522e-23	1	1.21267e-23	42	235				
ICE1	23379	broad.mit.edu	37	5	5460762	5460762	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5460762A>T	ENST00000296564.7	+	13	1537	c.1315A>T	c.(1315-1317)Act>Tct	p.T439S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		439					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAAAGTGACAACTTCTGGACT	0.433																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1315-1317)Act>Tct		KIAA0947							63.0	61.0	62.0					5																	5460762		1955	4149	6104	SO:0001583	missense	23379							g.chr5:5460762A>T																												ENST00000296564.7:c.1315A>T	5.37:g.5460762A>T	ENSP00000296564:p.Thr439Ser						p.T439S	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	1537	+			439					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1315A>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	9.189	1.025657	0.19512	.	.	ENSG00000164151	ENST00000296564	T	0.42900	0.96	4.04	-8.09	0.01090	.	1.297730	0.05004	N	0.469731	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.28291	0.206	B	0.25140	0.058	T	0.24621	-1.0155	10	0.06236	T	0.91	-3.1643	7.2261	0.26016	0.2062:0.4113:0.3824:0.0	.	439	Q9Y2F5	K0947_HUMAN	S	439	ENSP00000296564:T439S	ENSP00000296564:T439S	T	+	1	0	KIAA0947	5513762	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-3.578000	0.00425	-1.119000	0.02958	0.254000	0.18369	ACT		0.433	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			9	109	0	0	0	1	0	9	109				
ZNF324	25799	broad.mit.edu	37	19	58983274	58983274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58983274G>A	ENST00000536459.2	+	4	2124	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q|ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q			O75467	Z324A_HUMAN	zinc finger protein 324	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCAGCCACCGGCGCATTCAC	0.687																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1414-1416)cGg>cAg		zinc finger protein 324							34.0	36.0	35.0					19																	58983274		2202	4298	6500	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983274G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1415G>A	19.37:g.58983274G>A	ENSP00000444812:p.Arg472Gln					ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q|ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q	p.R472Q			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	2124	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	472					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1415G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200357	0.09652	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.17691	2.26;2.26;2.26	3.84	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.428368	0.17271	N	0.180378	T	0.05044	0.0135	N	0.01015	-1.05	0.29344	N	0.865829	P	0.47034	0.889	P	0.45856	0.495	T	0.18241	-1.0343	10	0.02654	T	1	.	8.0107	0.30351	0.2079:0.0:0.7921:0.0	.	472	O75467	Z324A_HUMAN	Q	472;472;462;249	ENSP00000196482:R472Q;ENSP00000444812:R472Q;ENSP00000439588:R249Q	ENSP00000196482:R472Q	R	+	2	0	ZNF324	63675086	0.004000	0.15560	0.994000	0.49952	0.413000	0.31143	-0.263000	0.08670	0.597000	0.29811	-0.497000	0.04613	CGG		0.687	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		81	299	0	0	0	1	0	81	299				
COL4A1	1282	broad.mit.edu	37	13	110828977	110828977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110828977C>A	ENST00000375820.4	-	35	3085	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	988	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGTACCTGGCTGCCCAGGCT	0.597																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2962-2964)caG>caT		collagen, type IV, alpha 1							51.0	50.0	50.0					13																	110828977		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110828977C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2964G>T	13.37:g.110828977C>A	ENSP00000364979:p.Gln988His						p.Q988H	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		35	3085	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	988			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2964G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356882	0.24598	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93189	-3.18	5.77	2.26	0.28386	.	0.185825	0.47852	N	0.000214	D	0.88987	0.6587	L	0.41124	1.26	0.80722	D	1	B	0.32302	0.363	B	0.42882	0.401	T	0.79438	-0.1803	10	0.15066	T	0.55	.	4.4167	0.11459	0.311:0.485:0.0:0.204	.	988	P02462	CO4A1_HUMAN	H	631;988;637	ENSP00000364979:Q988H	ENSP00000364973:Q631H	Q	-	3	2	COL4A1	109626978	0.002000	0.14202	1.000000	0.80357	0.155000	0.21991	-1.685000	0.01930	0.803000	0.34113	-0.182000	0.12963	CAG		0.597	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			41	238	1	0	1.59361e-14	1	1.73214e-14	41	238				
MTFP1	51537	broad.mit.edu	37	22	30823180	30823180	+	Missense_Mutation	SNP	G	G	A	rs144789689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30823180G>A	ENST00000266263.5	+	3	568	c.218G>A	c.(217-219)cGc>cAc	p.R73H	MTFP1_ENST00000355143.4_Intron|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.R245H|MTFP1_ENST00000407550.3_Intron	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	73					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						GAAGCAGGCCGCAGCGCCAGG	0.632																																						ENST00000439838.1																			0											c.(733-735)cGc>cAc									100.0	97.0	98.0					22																	30823180		2203	4300	6503	SO:0001583	missense	0							g.chr22:30823180G>A	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.218G>A	22.37:g.30823180G>A	ENSP00000266263:p.Arg73His					MTFP1_ENST00000407550.3_Intron|MTFP1_ENST00000355143.4_Intron|MTFP1_ENST00000266263.5_Missense_Mutation_p.R73H	p.R245H							8	734	+								A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	c.734G>A	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036618	0.35893	.	.	ENSG00000249590;ENSG00000242114	ENST00000439838;ENST00000266263	T	0.69685	-0.42	4.87	4.87	0.63330	.	0.104089	0.64402	D	0.000008	T	0.57257	0.2041	L	0.38531	1.155	0.80722	D	1	B	0.32693	0.38	B	0.31547	0.132	T	0.57636	-0.7777	10	0.36615	T	0.2	-5.8358	15.9659	0.79970	0.0:0.0:1.0:0.0	.	73	Q9UDX5	MTFP1_HUMAN	H	245;73	ENSP00000415178:R245H	ENSP00000266263:R73H	R	+	2	0	MTFP1;RP4-539M6.19	29153180	0.068000	0.21057	1.000000	0.80357	0.257000	0.26127	0.969000	0.29370	2.528000	0.85240	0.655000	0.94253	CGC		0.632	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321126.3	NM_016498		76	715	0	0	0	1	0	76	715				
RAPGEF6	51735	broad.mit.edu	37	5	130767004	130767004	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130767004G>A	ENST00000509018.1	-	26	4218	c.4013C>T	c.(4012-4014)gCt>gTt	p.A1338V	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1346V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1388V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1346V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1351V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1338	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGATGAGACAGCTAAACACTT	0.418																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4012-4014)gCt>gTt		Rap guanine nucleotide exchange factor (GEF) 6							80.0	81.0	81.0					5																	130767004		2203	4299	6502	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130767004G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4013C>T	5.37:g.130767004G>A	ENSP00000421684:p.Ala1338Val					RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1346V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1346V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1351V|FNIP1_ENST00000514667.1_Missense_Mutation_p.A1388V	p.A1338V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4218	-			1338			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4013C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549410	0.45383	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.26810	1.81;1.71;1.72;1.82;1.9	5.11	4.24	0.50183	.	0.331224	0.33515	N	0.004824	T	0.28034	0.0691	L	0.60455	1.87	0.80722	D	1	B;B;B;B;B	0.18968	0.009;0.032;0.032;0.015;0.009	B;B;B;B;B	0.28232	0.04;0.04;0.066;0.087;0.04	T	0.05321	-1.0892	10	0.35671	T	0.21	.	12.0526	0.53515	0.0802:0.0:0.9198:0.0	.	1346;1346;1388;1351;1338	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	V	1338;1351;1346;1346;1351;1388	ENSP00000421684:A1338V;ENSP00000309298:A1351V;ENSP00000426081:A1346V;ENSP00000296859:A1346V;ENSP00000426948:A1388V	ENSP00000426948:A1388V	A	-	2	0	RAPGEF6;FNIP1	130794903	1.000000	0.71417	0.994000	0.49952	0.615000	0.37417	5.650000	0.67944	1.301000	0.44836	0.655000	0.94253	GCT		0.418	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	375	0	0	0	1	0	7	375				
STRN4	29888	broad.mit.edu	37	19	47228837	47228837	+	Silent	SNP	G	G	A	rs145271240	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228837G>A	ENST00000263280.6	-	10	1366	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	STRN4_ENST00000391910.3_Silent_p.D446D|STRN4_ENST00000539396.1_Silent_p.D320D|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	439						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AACGAATGCCGTCGTAGTGCG	0.612																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1336-1338)gaC>gaT		striatin, calmodulin binding protein 4		G	,	9,4397	15.5+/-35.6	0,9,2194	97.0	95.0	96.0		1338,1317	-8.3	0.4	19	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,	446/761,439/754	47228837	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228837G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1317C>T	19.37:g.47228837G>A						STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.D439D|STRN4_ENST00000539396.1_Silent_p.D320D	p.D446D			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1788	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	439					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.1338C>T	CCDS12690.1																																																																																				0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			26	219	0	0	0	1	0	26	219				
NOL8	55035	broad.mit.edu	37	9	95077969	95077969	+	Missense_Mutation	SNP	G	G	A	rs189619241	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95077969G>A	ENST00000535387.1	-	6	937	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL8_ENST00000442668.2_Missense_Mutation_p.A313V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V|NOL8_ENST00000545558.1_Missense_Mutation_p.A313V|NOL8_ENST00000358855.4_Missense_Mutation_p.A245V					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTCCTCTTTCGCAATCATCAT	0.368													G|||	7	0.00139776	0.0	0.0014	5008	,	,		20596	0.0		0.006	False		,,,				2504	0.0					ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(937-939)gCg>gTg		nucleolar protein 8		G	VAL/ALA	1,3715		0,1,1857	56.0	50.0	52.0		938	3.8	0.8	9		52	26,8162		0,26,4068	yes	missense	NOL8	NM_017948.5	64	0,27,5925	AA,AG,GG		0.3175,0.0269,0.2268	probably-damaging	313/1168	95077969	27,11877	1858	4094	5952	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077969G>A	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.938C>T	9.37:g.95077969G>A	ENSP00000441300:p.Ala313Val					NOL8_ENST00000358855.4_Missense_Mutation_p.A245V|NOL8_ENST00000442668.2_Missense_Mutation_p.A313V|NOL8_ENST00000535387.1_Missense_Mutation_p.A313V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V	p.A313V			Q76FK4	NOL8_HUMAN			7	1430	-			313						Missense_Mutation	SNP	ENST00000535387.1	37	c.938C>T	CCDS47993.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	15.25	2.779031	0.49891	2.69E-4	0.003175	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.53640	2.18;2.2;2.18;2.4;2.2;1.91;0.61	5.68	3.77	0.43336	.	0.488728	0.22924	N	0.053997	T	0.32041	0.0816	L	0.38175	1.15	0.27918	N	0.938353	D	0.59767	0.986	P	0.45119	0.47	T	0.23797	-1.0178	10	0.72032	D	0.01	-1.3451	10.2172	0.43175	0.0:0.1172:0.4945:0.3883	.	313	Q76FK4	NOL8_HUMAN	V	313;315;245;313;313;245;313;313	ENSP00000401177:A313V;ENSP00000351723:A245V;ENSP00000441140:A313V;ENSP00000441300:A313V;ENSP00000440709:A245V;ENSP00000414112:A313V;ENSP00000412471:A313V	ENSP00000351723:A245V	A	-	2	0	NOL8	94117790	0.272000	0.24172	0.824000	0.32777	0.633000	0.38033	0.922000	0.28734	0.688000	0.31529	0.650000	0.86243	GCG		0.368	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		13	85	0	0	0	1	0	13	85				
SYCE2	256126	broad.mit.edu	37	19	13015452	13015452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13015452C>A	ENST00000293695.7	-	3	178	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	54					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCGACTTCCCTTCCAGGACC	0.547																																						ENST00000293695.7																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(160-162)Ggg>Tgg		synaptonemal complex central element protein 2							138.0	141.0	140.0					19																	13015452		2157	4274	6431	SO:0001583	missense	256126				cell division	central element		g.chr19:13015452C>A	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.160G>T	19.37:g.13015452C>A	ENSP00000293695:p.Gly54Trp					SYCE2_ENST00000591229.1_5'UTR	p.G54W	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN			3	178	-			54					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.160G>T	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229193	0.58777	.	.	ENSG00000161860	ENST00000293695	.	.	.	4.55	4.55	0.56014	.	0.566735	0.15904	N	0.238906	T	0.53932	0.1827	L	0.36672	1.1	0.28317	N	0.922397	D	0.89917	1.0	D	0.97110	1.0	T	0.48317	-0.9046	9	0.87932	D	0	0.0377	12.6762	0.56895	0.0:1.0:0.0:0.0	.	54	Q6PIF2	SYCE2_HUMAN	W	54	.	ENSP00000293695:G54W	G	-	1	0	SYCE2	12876452	0.984000	0.35163	0.999000	0.59377	0.764000	0.43329	1.881000	0.39638	2.353000	0.79882	0.462000	0.41574	GGG		0.547	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		24	696	1	0	1.1804e-14	1	1.28451e-14	24	696				
RCE1	9986	broad.mit.edu	37	11	66611062	66611062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66611062G>A	ENST00000309657.3	+	1	180	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	RCE1_ENST00000525356.1_5'Flank|RCE1_ENST00000524506.1_Missense_Mutation_p.A46T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	46					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTCAGCCTCGCCTGCTCCTA	0.746																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(136-138)Gcc>Acc		Ras converting CAAX endopeptidase 1							5.0	6.0	6.0					11																	66611062		1854	3734	5588	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66611062G>A	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.136G>A	11.37:g.66611062G>A	ENSP00000309163:p.Ala46Thr					RCE1_ENST00000524506.1_Missense_Mutation_p.A46T	p.A46T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			1	180	+			46					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.136G>A	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693088	0.96793	.	.	ENSG00000173653	ENST00000309657;ENST00000524506	.	.	.	4.51	4.51	0.55191	.	0.162448	0.38326	N	0.001732	T	0.66616	0.2807	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68051	-0.5511	9	0.49607	T	0.09	-10.3498	15.0864	0.72158	0.0:0.0:1.0:0.0	.	46	Q9Y256	FACE2_HUMAN	T	46	.	ENSP00000309163:A46T	A	+	1	0	RCE1	66367638	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.931000	0.87625	2.215000	0.71742	0.561000	0.74099	GCC		0.746	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		14	57	0	0	0	1	0	14	57				
MMS22L	253714	broad.mit.edu	37	6	97621034	97621034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97621034G>A	ENST00000275053.4	-	19	3009	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	MMS22L_ENST00000369251.2_Missense_Mutation_p.S875F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	915					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTATTCCAAGGACTTTGTGAC	0.368																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2743-2745)tCc>tTc		MMS22-like, DNA repair protein							61.0	63.0	63.0					6																	97621034		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97621034G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2744C>T	6.37:g.97621034G>A	ENSP00000275053:p.Ser915Phe					MMS22L_ENST00000369251.2_Missense_Mutation_p.S875F	p.S915F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			19	3009	-			915					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.2744C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604459	0.66445	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34072	1.52;1.38	5.43	5.43	0.79202	.	0.246767	0.41712	D	0.000838	T	0.33323	0.0859	L	0.54323	1.7	0.29392	N	0.86256	D;P	0.59767	0.986;0.911	P;P	0.51135	0.66;0.461	T	0.15263	-1.0443	10	0.66056	D	0.02	-17.6137	15.1347	0.72555	0.0:0.141:0.859:0.0	.	875;915	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	F	915;875	ENSP00000275053:S915F;ENSP00000358254:S875F	ENSP00000275053:S915F	S	-	2	0	MMS22L	97727755	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.526000	0.53509	2.693000	0.91896	0.655000	0.94253	TCC		0.368	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		9	315	0	0	0	1	0	9	315				
SH3BGRL3	83442	broad.mit.edu	37	1	26607289	26607289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26607289C>A	ENST00000270792.5	+	2	1062	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamate-rich protein like 3	28	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of actin filament depolymerization (GO:0030834)|regulation of blood vessel endothelial cell migration (GO:0043535)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)|Rho GTPase activator activity (GO:0005100)|semaphorin receptor binding (GO:0030215)						all_cancers(24;1.16e-23)|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;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCGAATCCTGGATGGGAA	0.597																																						ENST00000270792.5																			0											c.(82-84)Ctg>Atg		SH3 domain binding glutamic acid-rich protein like 3							77.0	69.0	72.0					1																	26607289		2203	4300	6503	SO:0001583	missense	83442				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity	g.chr1:26607289C>A	AJ297915	CCDS278.1	1p36.11	2014-02-19	2014-02-19		ENSG00000142669	ENSG00000142669			15568	protein-coding gene	gene with protein product		615679	"""SH3 domain binding glutamic acid-rich protein like 3"""				Standard	NM_031286		Approved		uc001blu.3	Q9H299	OTTHUMG00000003381	ENST00000270792.5:c.82C>A	1.37:g.26607289C>A	ENSP00000270792:p.Leu28Met					SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	p.L28M	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)	2	1062	+		all_cancers(24;1.16e-23)|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;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	28			Glutaredoxin.		Q5T122	Missense_Mutation	SNP	ENST00000270792.5	37	c.82C>A	CCDS278.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253796	0.95336	.	.	ENSG00000142669	ENST00000270792;ENST00000374243;ENST00000319041	D;D	0.90385	-2.66;-2.66	6.08	6.08	0.98989	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	.	.	.	0.48087	D	0.999588	D	0.71674	0.998	D	0.73380	0.98	D	0.95096	0.8226	9	0.62326	D	0.03	-9.1582	20.6634	0.99662	0.0:1.0:0.0:0.0	.	28	Q9H299	SH3L3_HUMAN	M	28;161;28	ENSP00000270792:L28M;ENSP00000363358:L28M	ENSP00000270792:L28M	L	+	1	2	SH3BGRL3	26479876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.019000	0.70818	2.894000	0.99253	0.655000	0.94253	CTG		0.597	SH3BGRL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009498.1			47	228	1	0	2.62258e-09	1	2.75829e-09	47	228				
FLAD1	80308	broad.mit.edu	37	1	154960890	154960890	+	Missense_Mutation	SNP	C	C	T	rs374803472		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154960890C>T	ENST00000292180.3	+	2	1004	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	FLAD1_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000368433.1_Missense_Mutation_p.R228C|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368432.1_Missense_Mutation_p.R131C|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	228					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCTCTGCCCGCCTGCATTA	0.562																																						ENST00000368433.1																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(682-684)Cgc>Tgc		flavin adenine dinucleotide synthetase 1		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	70.0	70.0		391,385,682,391	2.9	1.0	1		70	0,8600		0,0,4300	no	missense,missense,missense,missense	FLAD1	NM_001184891.1,NM_001184892.1,NM_025207.4,NM_201398.2	180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	131/447,129/295,228/588,131/491	154960890	1,13005	2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154960890C>T		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.682C>T	1.37:g.154960890C>T	ENSP00000292180:p.Arg228Cys					FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000368432.1_Missense_Mutation_p.R131C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C|FLAD1_ENST00000292180.3_Missense_Mutation_p.R228C|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C	p.R228C			Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	1025	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		228					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.682C>T	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594311	0.66219	2.27E-4	0.0	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	5.81	2.94	0.34122	Molybdopterin binding (4);	0.118328	0.56097	N	0.000029	T	0.55609	0.1931	M	0.71036	2.16	0.47214	D	0.999354	D;B	0.76494	0.999;0.109	D;B	0.64877	0.93;0.016	T	0.60214	-0.7307	9	0.59425	D	0.04	-14.8284	3.0349	0.06118	0.1217:0.5542:0.1184:0.2057	.	228;129	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	C	228;131;131;129;228;129	.	ENSP00000292180:R228C	R	+	1	0	FLAD1	153227514	0.951000	0.32395	1.000000	0.80357	0.885000	0.51271	1.567000	0.36407	0.823000	0.34589	-0.369000	0.07265	CGC		0.562	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		8	467	0	0	0	1	0	8	467				
DNAH7	56171	broad.mit.edu	37	2	196741347	196741347	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196741347G>T	ENST00000312428.6	-	37	6138	c.6038C>A	c.(6037-6039)gCt>gAt	p.A2013D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2013	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGAGTTTGAGCTGCTGTAGT	0.323																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6037-6039)gCt>gAt		dynein, axonemal, heavy chain 7							155.0	139.0	144.0					2																	196741347		1834	4083	5917	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196741347G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6038C>A	2.37:g.196741347G>T	ENSP00000311273:p.Ala2013Asp						p.A2013D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			37	6138	-			2013			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6038C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298407	0.60195	.	.	ENSG00000118997	ENST00000312428	T	0.43688	0.94	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);	0.055211	0.64402	D	0.000001	T	0.50411	0.1614	L	0.58510	1.815	0.80722	D	1	B	0.29270	0.24	B	0.39771	0.309	T	0.40720	-0.9548	10	0.36615	T	0.2	.	19.28	0.94050	0.0:0.0:1.0:0.0	.	2013	Q8WXX0	DYH7_HUMAN	D	2013	ENSP00000311273:A2013D	ENSP00000311273:A2013D	A	-	2	0	DNAH7	196449592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.890000	0.99128	0.585000	0.79938	GCT		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		38	439	1	0	2.87052e-16	1	3.15093e-16	38	439				
RASAL2	9462	broad.mit.edu	37	1	178425861	178425861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178425861C>T	ENST00000462775.1	+	11	1919	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	RASAL2_ENST00000367649.3_Silent_p.T739T|RASAL2_ENST00000448150.3_Silent_p.T728T	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	598					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TACAGGCGACCGTGGCAAAAT	0.468																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2182-2184)acC>acT		RAS protein activator like 2							217.0	229.0	225.0					1																	178425861		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178425861C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1794C>T	1.37:g.178425861C>T						RASAL2_ENST00000462775.1_Silent_p.T598T|RASAL2_ENST00000367649.3_Silent_p.T739T	p.T728T	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			13	3002	+			598					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2184C>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	4.747	0.138821	0.09083	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.04	0.19	0.15125	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23154	-1.0196	4	.	.	.	.	3.425	0.07408	0.1192:0.5236:0.1172:0.24	.	.	.	.	C	149	.	.	R	+	1	0	RASAL2	176692484	0.808000	0.29022	0.992000	0.48379	0.931000	0.56810	-0.119000	0.10676	0.117000	0.18138	-0.136000	0.14681	CGT		0.468	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		115	1547	0	0	0	1	0	115	1547				
ZNF749	388567	broad.mit.edu	37	19	57955694	57955694	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955694A>G	ENST00000334181.4	+	3	1428	c.1178A>G	c.(1177-1179)cAc>cGc	p.H393R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTCTTTAGTCACCGCTCCACA	0.423																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1177-1179)cAc>cGc		zinc finger protein 749							101.0	101.0	101.0					19																	57955694		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955694A>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1178A>G	19.37:g.57955694A>G	ENSP00000333980:p.His393Arg					AC004076.9_ENST00000596831.1_Intron	p.H393R	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1428	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	393						Missense_Mutation	SNP	ENST00000334181.4	37	c.1178A>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	0.238	-1.015811	0.02078	.	.	ENSG00000186230	ENST00000334181	T	0.17691	2.26	1.73	-0.556	0.11803	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.02865	-0.47	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.42430	-0.9452	9	0.21540	T	0.41	.	6.2028	0.20585	0.5547:0.0:0.4453:0.0	.	393	O43361	ZN749_HUMAN	R	393	ENSP00000333980:H393R	ENSP00000333980:H393R	H	+	2	0	ZNF749	62647506	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	-1.884000	0.01622	-0.249000	0.09569	0.164000	0.16699	CAC		0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		81	408	0	0	0	1	0	81	408				
TMED5	50999	broad.mit.edu	37	1	93646151	93646151	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93646151C>T	ENST00000370282.3	-	0	134				CCDC18_ENST00000557479.1_Missense_Mutation_p.P22S|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|TMED5_ENST00000370280.1_5'Flank|TMED5_ENST00000479918.1_5'Flank	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5						Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CGGGCGGGCTCCGCTAGTGGG	0.731																																						ENST00000557479.1																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(64-66)Ccg>Tcg		coiled-coil domain containing 18							18.0	20.0	19.0					1																	93646151		1818	4061	5879	SO:0001623	5_prime_UTR_variant	343099							g.chr1:93646151C>T	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.-352G>A	1.37:g.93646151C>T						CCDC18_ENST00000338949.4_5'UTR|TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000343253.7_Intron	p.P22S	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	1	232	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	0					B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.64C>T	CCDS743.1	.	.	.	.	.	.	.	.	.	.	C	0.416	-0.910605	0.02434	.	.	ENSG00000122483	ENST00000557479	.	.	.	3.12	-1.51	0.08664	.	.	.	.	.	T	0.07773	0.0195	.	.	.	0.20403	N	0.999904	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	7	0.25751	T	0.34	.	3.8311	0.08874	0.0:0.3374:0.3972:0.2654	.	22	G3V388	.	S	22	.	ENSP00000383808:P22S	P	+	1	0	CCDC18	93418739	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.251000	0.02882	-0.177000	0.10690	0.561000	0.74099	CCG		0.731	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		42	153	0	0	0	1	0	42	153				
NCALD	83988	broad.mit.edu	37	8	102731833	102731833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102731833G>A	ENST00000311028.3	-	5	403	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	NCALD_ENST00000220931.6_Missense_Mutation_p.R9C|NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000522951.1_Missense_Mutation_p.R9C|NCALD_ENST00000395923.1_Missense_Mutation_p.R9C	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	9					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			ACCTCCGGGCGCAGCTTGCTG	0.478																																						ENST00000395923.1																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(25-27)Cgc>Tgc		neurocalcin delta							54.0	57.0	56.0					8																	102731833		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102731833G>A	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.25C>T	8.37:g.102731833G>A	ENSP00000310587:p.Arg9Cys					NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000311028.3_Missense_Mutation_p.R9C|NCALD_ENST00000220931.6_Missense_Mutation_p.R9C|NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000522951.1_Missense_Mutation_p.R9C	p.R9C	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		4	484	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		9					P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.25C>T	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135044	0.56828	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166;ENST00000522252;ENST00000517822;ENST00000524209;ENST00000517531;ENST00000521964;ENST00000519098;ENST00000523923;ENST00000520346;ENST00000518661;ENST00000522206;ENST00000524137;ENST00000522078	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.62266	1.93	0.80722	D	1	D	0.61080	0.989	B	0.39738	0.308	T	0.16958	-1.0385	10	0.87932	D	0	.	19.0263	0.92934	0.0:0.0:1.0:0.0	.	9	P61601	NCALD_HUMAN	C	9	ENSP00000379256:R9C;ENSP00000310587:R9C;ENSP00000220931:R9C;ENSP00000428105:R9C;ENSP00000430476:R9C;ENSP00000428781:R9C;ENSP00000429466:R9C;ENSP00000429255:R9C;ENSP00000430731:R9C;ENSP00000430925:R9C;ENSP00000429522:R9C;ENSP00000428598:R9C;ENSP00000428312:R9C;ENSP00000429493:R9C;ENSP00000429245:R9C;ENSP00000430064:R9C;ENSP00000430534:R9C;ENSP00000428193:R9C;ENSP00000430365:R9C;ENSP00000428093:R9C;ENSP00000429296:R9C	ENSP00000220931:R9C	R	-	1	0	NCALD	102801009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.474000	0.83562	0.557000	0.71058	CGC		0.478	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			69	343	0	0	0	1	0	69	343				
ATP2A2	488	broad.mit.edu	37	12	110765515	110765515	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110765515T>C	ENST00000539276.2	+	8	897	c.788T>C	c.(787-789)gTc>gCc	p.V263A	ATP2A2_ENST00000308664.6_Missense_Mutation_p.V263A|ATP2A2_ENST00000395494.2_Missense_Mutation_p.V236A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	263					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTTTCCAAAGTCATCTCCCTT	0.448																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(706-708)gTc>gCc		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							152.0	153.0	153.0					12																	110765515		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110765515T>C		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.788T>C	12.37:g.110765515T>C	ENSP00000440045:p.Val263Ala					ATP2A2_ENST00000539276.2_Missense_Mutation_p.V263A|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V263A	p.V236A			P16615	AT2A2_HUMAN			7	1270	+			263					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.707T>C	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436419	0.62955	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.91407	-2.84;-2.84;-2.84	5.48	5.48	0.80851	ATPase, P-type, ATPase-associated domain (1);	0.055142	0.64402	D	0.000001	D	0.84999	0.5597	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.008;0.004;0.008	B;B;B	0.19148	0.012;0.014;0.024	T	0.80605	-0.1308	10	0.41790	T	0.15	.	15.9151	0.79508	0.0:0.0:0.0:1.0	.	236;263;263	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	A	263;236;263	ENSP00000311186:V263A;ENSP00000378872:V236A;ENSP00000440045:V263A	ENSP00000311186:V263A	V	+	2	0	ATP2A2	109249898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.980000	0.88113	2.213000	0.71641	0.477000	0.44152	GTC		0.448	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		33	949	0	0	0	1	0	33	949				
ASH1L	55870	broad.mit.edu	37	1	155491144	155491144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155491144C>T	ENST00000368346.3	-	2	806	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K|ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	56					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGATGTTTCTTTCTCGATT	0.398																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(166-168)aGa>aAa		ash1 (absent, small, or homeotic)-like (Drosophila)							310.0	311.0	310.0					1																	155491144		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491144C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.167G>A	1.37:g.155491144C>T	ENSP00000357330:p.Arg56Lys					ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K|ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K	p.R56K			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	806	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		56					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.167G>A		.	.	.	.	.	.	.	.	.	.	C	17.24	3.338689	0.60963	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.87491	-2.26;-2.26	6.03	5.13	0.70059	.	0.384283	0.27996	N	0.017004	T	0.49712	0.1573	N	0.08118	0	0.26744	N	0.970322	B;B	0.13145	0.004;0.007	B;B	0.16289	0.007;0.015	T	0.32824	-0.9892	10	0.05721	T	0.95	.	9.9335	0.41537	0.1377:0.7926:0.0:0.0697	.	56;56	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	56	ENSP00000357330:R56K;ENSP00000376204:R56K	ENSP00000357330:R56K	R	-	2	0	ASH1L	153757768	1.000000	0.71417	0.861000	0.33841	0.862000	0.49288	4.288000	0.59007	1.567000	0.49668	0.557000	0.71058	AGA		0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		373	1730	0	0	0	1	0	373	1730				
EMX1	2016	broad.mit.edu	37	2	73145311	73145311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73145311G>A	ENST00000258106.6	+	1	708	c.330G>A	c.(328-330)tcG>tcA	p.S110S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	77					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						cgggccgcTCGCTCTACGGTG	0.771																																						ENST00000258106.6																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(328-330)tcG>tcA		empty spiracles homeobox 1							5.0	6.0	6.0					2																	73145311		1595	3568	5163	SO:0001819	synonymous_variant	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73145311G>A	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.330G>A	2.37:g.73145311G>A						EMX1_ENST00000394111.5_Intron	p.S110S	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN			1	708	+			77					Q0D2P0|Q53T30|Q86XB0	Silent	SNP	ENST00000258106.6	37	c.330G>A	CCDS1921.2																																																																																				0.771	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			43	80	0	0	0	1	0	43	80				
SYNE1	23345	broad.mit.edu	37	6	152652508	152652508	+	Missense_Mutation	SNP	T	T	C	rs376505187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652508T>C	ENST00000367255.5	-	78	13913	c.13312A>G	c.(13312-13314)Agt>Ggt	p.S4438G	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4438					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTAAGTCACTGAGACAATTC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13312-13314)Agt>Ggt		spectrin repeat containing, nuclear envelope 1							100.0	92.0	95.0					6																	152652508		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652508T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13312A>G	6.37:g.152652508T>C	ENSP00000356224:p.Ser4438Gly	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G	p.S4438G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13913	-		Ovarian(120;0.0955)	4438					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13312A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409322	0.25378	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.84	3.48	0.39840	.	0.334922	0.29355	N	0.012386	T	0.11623	0.0283	L	0.39633	1.23	0.80722	D	1	B;B;B;B	0.14805	0.011;0.003;0.003;0.005	B;B;B;B	0.15484	0.005;0.006;0.006;0.013	T	0.08289	-1.0729	10	0.15499	T	0.54	.	9.7803	0.40645	0.0:0.1377:0.0:0.8623	.	4438;4438;4438;4367	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	4438;4367;4438;4367;4303	ENSP00000356224:S4438G;ENSP00000396024:S4367G;ENSP00000265368:S4438G;ENSP00000390975:S4367G;ENSP00000341887:S4303G	ENSP00000265368:S4438G	S	-	1	0	SYNE1	152694201	1.000000	0.71417	0.946000	0.38457	0.970000	0.65996	3.524000	0.53495	0.490000	0.27771	0.533000	0.62120	AGT		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		72	292	0	0	0	1	0	72	292				
CNTN2	6900	broad.mit.edu	37	1	205027766	205027766	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205027766C>A	ENST00000331830.4	+	5	746	c.462C>A	c.(460-462)ccC>ccA	p.P154P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	154	Ig-like C2-type 2.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGATGTTGCCCTGTAACCCAC	0.597																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(460-462)ccC>ccA		contactin 2 (axonal)							44.0	44.0	44.0					1																	205027766		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205027766C>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.462C>A	1.37:g.205027766C>A							p.P154P	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		5	746	+	all_cancers(21;0.144)|Breast(84;0.0437)		154			Ig-like C2-type 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.462C>A	CCDS1449.1																																																																																				0.597	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		39	144	1	0	3.09479e-21	1	3.48195e-21	39	144				
PIP4K2C	79837	broad.mit.edu	37	12	57994625	57994625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57994625G>T	ENST00000354947.5	+	8	861	c.845G>T	c.(844-846)aGc>aTc	p.S282I	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	282	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATGGACTACAGCCTTCTGCTA	0.552																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(844-846)aGc>aTc		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							234.0	232.0	233.0					12																	57994625		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994625G>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.845G>T	12.37:g.57994625G>T	ENSP00000347032:p.Ser282Ile					PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I	p.S282I			Q8TBX8	PI42C_HUMAN			8	861	+	Melanoma(17;0.122)		282			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.845G>T	CCDS8946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401154|4.401154	0.83120|0.83120	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000548264|ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	.|T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96	4.47|4.47	4.47|4.47	0.54385|0.54385	.|Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	.|0.042667	.|0.85682	.|D	.|0.000000	D|D	0.91855|0.91855	0.7422|0.7422	H|H	0.98866|0.98866	4.355|4.355	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.95073|0.95073	0.8206|0.8206	5|10	.|0.87932	.|D	.|0	-14.8145|-14.8145	16.433|16.433	0.83860|0.83860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|234;264;282	.|B4DM11;B4DY44;Q8TBX8	.|.;.;PI42C_HUMAN	S|I	90|234;282;264;282	.|ENSP00000412035:S234I;ENSP00000439878:S282I;ENSP00000447390:S264I;ENSP00000347032:S282I	.|ENSP00000347032:S282I	A|S	+|+	1|2	0|0	PIP4K2C|PIP4K2C	56280892|56280892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.089000|9.089000	0.94137|0.94137	2.480000|2.480000	0.83734|0.83734	0.555000|0.555000	0.69702|0.69702	GCC|AGC		0.552	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		292	1404	1	0	6.86218e-66	1	8.67879e-66	292	1404				
OR51I2	390064	broad.mit.edu	37	11	5475516	5475516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475516G>A	ENST00000341449.2	+	1	879	c.798G>A	c.(796-798)aaG>aaA	p.K266K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	266					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTTGGGAAGCATGTCCCAT	0.468																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(796-798)aaG>aaA		olfactory receptor, family 51, subfamily I, member 2							220.0	187.0	198.0					11																	5475516		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475516G>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.798G>A	11.37:g.5475516G>A						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.K266K	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	879	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	266					Q6IF81	Silent	SNP	ENST00000341449.2	37	c.798G>A	CCDS31383.1																																																																																				0.468	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		157	624	0	0	0	1	0	157	624				
KIAA1549	57670	broad.mit.edu	37	7	138603904	138603904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603904C>T	ENST00000422774.1	-	2	516	c.468G>A	c.(466-468)gaG>gaA	p.E156E	KIAA1549_ENST00000242365.4_Silent_p.E106E|KIAA1549_ENST00000440172.1_Silent_p.E156E			Q9HCM3	K1549_HUMAN	KIAA1549	156						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTTATCCATCTCATCGTCAT	0.488			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(466-468)gaG>gaA		KIAA1549							230.0	221.0	224.0					7																	138603904		2010	4185	6195	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138603904C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.468G>A	7.37:g.138603904C>T						KIAA1549_ENST00000422774.1_Silent_p.E156E|KIAA1549_ENST00000242365.4_Silent_p.E106E	p.E156E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	516	-			156					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.468G>A	CCDS56513.1																																																																																				0.488	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			128	729	0	0	0	1	0	128	729				
MEGF8	1954	broad.mit.edu	37	19	42874461	42874461	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42874461T>C	ENST00000251268.6	+	39	6955	c.6955T>C	c.(6955-6957)Tta>Cta	p.L2319L	MEGF8_ENST00000334370.4_Silent_p.L2252L|MEGF8_ENST00000378073.4_5'UTR	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2319					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGAAGGAGTTACAAATGTC	0.592																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(6754-6756)Tta>Cta		multiple EGF-like-domains 8							39.0	36.0	37.0					19																	42874461		2203	4299	6502	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42874461T>C	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6955T>C	19.37:g.42874461T>C						MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000251268.6_Silent_p.L2319L	p.L2252L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			38	7389	+		Prostate(69;0.00682)	2319					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.6754T>C																																																																																					0.592	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		19	94	0	0	0	1	0	19	94				
ETAA1	54465	broad.mit.edu	37	2	67631862	67631862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67631862C>T	ENST00000272342.5	+	5	2178	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	683						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTTGCTATATCTAAACAAGGA	0.353																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2047-2049)tCt>tTt		Ewing tumor-associated antigen 1							82.0	85.0	84.0					2																	67631862		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67631862C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2048C>T	2.37:g.67631862C>T	ENSP00000272342:p.Ser683Phe					ETAA1_ENST00000462772.1_Intron	p.S683F	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2178	+			683					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2048C>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835227	0.71373	.	.	ENSG00000143971	ENST00000272342	T	0.26810	1.71	5.7	4.83	0.62350	.	0.550372	0.19256	N	0.118798	T	0.28300	0.0699	L	0.59436	1.845	0.25308	N	0.989222	B	0.27140	0.169	B	0.28553	0.091	T	0.23476	-1.0187	10	0.72032	D	0.01	-0.3088	11.9379	0.52884	0.0:0.9203:0.0:0.0797	.	683	Q9NY74	ETAA1_HUMAN	F	683	ENSP00000272342:S683F	ENSP00000272342:S683F	S	+	2	0	ETAA1	67485366	0.998000	0.40836	0.817000	0.32601	0.075000	0.17131	1.646000	0.37249	1.415000	0.47037	0.563000	0.77884	TCT		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		79	354	0	0	0	1	0	79	354				
SPICE1	152185	broad.mit.edu	37	3	113172681	113172681	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113172681T>G	ENST00000295872.4	-	14	2033	c.1774A>C	c.(1774-1776)Aat>Cat	p.N592H		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	592					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCACTTGAATTCTGAATGTCT	0.423																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1774-1776)Aat>Cat		spindle and centriole associated protein 1							114.0	116.0	116.0					3																	113172681		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172681T>G	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1774A>C	3.37:g.113172681T>G	ENSP00000295872:p.Asn592His						p.N592H	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2033	-			592					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1774A>C	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262575	0.39995	.	.	ENSG00000163611	ENST00000295872	T	0.32988	1.43	5.64	4.41	0.53225	.	0.414683	0.25836	N	0.027982	T	0.25494	0.0620	L	0.50919	1.6	0.30464	N	0.774029	B;B	0.30937	0.301;0.129	B;B	0.27715	0.082;0.082	T	0.18241	-1.0343	10	0.39692	T	0.17	-10.3328	9.0791	0.36540	0.0:0.0:0.185:0.8149	.	488;592	B3KX77;Q8N0Z3	.;SPICE_HUMAN	H	592	ENSP00000295872:N592H	ENSP00000295872:N592H	N	-	1	0	SPICE1	114655371	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	2.641000	0.46587	2.145000	0.66743	0.460000	0.39030	AAT		0.423	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		8	452	0	0	0	1	0	8	452				
JPH1	56704	broad.mit.edu	37	8	75227606	75227606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75227606C>T	ENST00000342232.4	-	2	669	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	210					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCGGAAGAGGCCGCCCTTCTT	0.657																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(628-630)gGc>gAc		junctophilin 1							50.0	55.0	53.0					8																	75227606		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227606C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.629G>A	8.37:g.75227606C>T	ENSP00000344488:p.Gly210Asp						p.G210D	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	669	-	Breast(64;0.00576)		210					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.629G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315710	0.81469	.	.	ENSG00000104369	ENST00000342232	T	0.59772	0.24	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81850	-0.0743	10	0.87932	D	0	.	17.6684	0.88209	0.0:1.0:0.0:0.0	.	210	Q9HDC5	JPH1_HUMAN	D	210	ENSP00000344488:G210D	ENSP00000344488:G210D	G	-	2	0	JPH1	75390161	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.285000	0.78660	2.377000	0.81083	0.655000	0.94253	GGC		0.657	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			95	476	0	0	0	1	0	95	476				
TAF1D	79101	broad.mit.edu	37	11	93471348	93471348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93471348C>A	ENST00000448108.2	-	3	1036	c.386G>T	c.(385-387)aGa>aTa	p.R129I	SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	129					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCCAGATCCTCTGCTTCTAAA	0.398																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(385-387)aGa>aTa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							120.0	125.0	123.0					11																	93471348		2201	4298	6499	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471348C>A		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.386G>T	11.37:g.93471348C>A	ENSP00000410409:p.Arg129Ile						p.R129I	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	1036	-			129					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.386G>T	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596396	0.28445	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	-2.84	0.05751	.	0.438594	0.22677	N	0.056993	T	0.24774	0.0601	L	0.38175	1.15	0.09310	N	0.999996	P	0.47302	0.893	B	0.40825	0.341	T	0.26538	-1.0100	9	0.72032	D	0.01	-5.3265	10.8645	0.46847	0.0:0.501:0.0:0.499	.	129	Q9H5J8	TAF1D_HUMAN	I	129	.	ENSP00000314971:R129I	R	-	2	0	TAF1D	93110996	0.082000	0.21442	0.002000	0.10522	0.002000	0.02628	-0.278000	0.08490	-0.669000	0.05289	-1.934000	0.00508	AGA		0.398	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		125	616	1	0	2.12867e-53	1	2.65328e-53	125	616				
ZNF532	55205	broad.mit.edu	37	18	56651207	56651207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56651207C>T	ENST00000336078.4	+	11	4191	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGAAAGGTCCCCAGTCCCAA	0.453																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(3415-3417)Ccc>Tcc		zinc finger protein 532							83.0	86.0	85.0					18																	56651207		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56651207C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3415C>T	18.37:g.56651207C>T	ENSP00000338217:p.Pro1139Ser					ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S	p.P1139S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			11	4191	+			1139					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.3415C>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493039	0.44352	.	.	ENSG00000074657	ENST00000336078	T	0.01495	4.83	5.84	5.84	0.93424	.	0.241087	0.42964	D	0.000630	T	0.02083	0.0065	L	0.38838	1.175	0.34340	D	0.688615	B;B	0.32939	0.063;0.391	B;B	0.28139	0.018;0.086	T	0.57142	-0.7862	10	0.24483	T	0.36	.	15.2524	0.73559	0.0:0.8599:0.1401:0.0	.	1139;1139	B3KXW2;Q9HCE3	.;ZN532_HUMAN	S	1139	ENSP00000338217:P1139S	ENSP00000338217:P1139S	P	+	1	0	ZNF532	54802187	0.737000	0.28175	0.991000	0.47740	0.270000	0.26580	1.743000	0.38258	2.769000	0.95229	0.561000	0.74099	CCC		0.453	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		52	293	0	0	0	1	0	52	293				
DES	1674	broad.mit.edu	37	2	220286186	220286186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220286186G>A	ENST00000373960.3	+	6	1234	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	383	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGATGGCCCGCCATCTGCGC	0.607																																						ENST00000373960.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(1147-1149)cGc>cAc		desmin							66.0	63.0	64.0					2																	220286186		2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286186G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1148G>A	2.37:g.220286186G>A	ENSP00000363071:p.Arg383His						p.R383H	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	6	1234	+		Renal(207;0.0183)	383			Coil 2B.|Rod.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1148G>A	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516165	0.96402	.	.	ENSG00000175084	ENST00000373960	D	0.90261	-2.64	5.12	5.12	0.69794	Filament (1);	0.000000	0.46442	D	0.000298	D	0.95840	0.8646	M	0.86028	2.79	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	D	0.96252	0.9184	10	0.87932	D	0	.	18.3699	0.90403	0.0:0.0:1.0:0.0	.	383	P17661	DESM_HUMAN	H	383	ENSP00000363071:R383H	ENSP00000363071:R383H	R	+	2	0	DES	219994430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.519000	0.98025	2.646000	0.89796	0.655000	0.94253	CGC		0.607	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		94	311	0	0	0	1	0	94	311				
ABHD13	84945	broad.mit.edu	37	13	108881891	108881891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108881891G>A	ENST00000375898.3	+	2	626	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	109						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATACACTGGAGACAATTCACC	0.383																																					Pancreas(22;506 789 38166 45896 51596)	ENST00000375898.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(325-327)Gac>Aac		abhydrolase domain containing 13							80.0	75.0	76.0					13																	108881891		2203	4299	6502	SO:0001583	missense	84945					integral to membrane	hydrolase activity	g.chr13:108881891G>A	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.325G>A	13.37:g.108881891G>A	ENSP00000365063:p.Asp109Asn						p.D109N	NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN			2	626	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		109					B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	37	c.325G>A	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059846	0.36373	.	.	ENSG00000139826	ENST00000375898	T	0.19806	2.12	5.89	5.04	0.67666	.	0.103313	0.64402	D	0.000004	T	0.12092	0.0294	N	0.10874	0.06	0.52501	D	0.999955	B	0.19445	0.036	B	0.12837	0.008	T	0.13791	-1.0496	10	0.25106	T	0.35	-23.612	14.5609	0.68136	0.0711:0.0:0.9289:0.0	.	109	Q7L211	ABHDD_HUMAN	N	109	ENSP00000365063:D109N	ENSP00000365063:D109N	D	+	1	0	ABHD13	107679892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.788000	0.95919	0.557000	0.71058	GAC		0.383	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		47	224	0	0	0	1	0	47	224				
MYBBP1A	10514	broad.mit.edu	37	17	4449013	4449013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4449013C>T	ENST00000254718.4	-	15	2271	c.1965G>A	c.(1963-1965)ttG>ttA	p.L655L	MYBBP1A_ENST00000381556.2_Silent_p.L655L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	655					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGGGCCAGCAAGATCTCCA	0.682																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1963-1965)ttG>ttA		MYB binding protein (P160) 1a							27.0	28.0	28.0					17																	4449013		2198	4298	6496	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4449013C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1965G>A	17.37:g.4449013C>T						MYBBP1A_ENST00000381556.2_Silent_p.L655L	p.L655L			Q9BQG0	MBB1A_HUMAN			15	2271	-			655					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.1965G>A	CCDS11046.1																																																																																				0.682	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		32	113	0	0	0	1	0	32	113				
SERPIND1	3053	broad.mit.edu	37	22	21134137	21134137	+	Silent	SNP	G	G	A	rs369334872		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21134137G>A	ENST00000215727.5	+	2	820	c.537G>A	c.(535-537)tcG>tcA	p.S179S	SERPIND1_ENST00000406799.1_Silent_p.S179S|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	179					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	AAGTGCACTCGATTTTGCATT	0.433																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(535-537)tcG>tcA		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)	G	,	0,4406		0,0,2203	106.0	104.0	104.0		537,	-11.9	0.0	22		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	SERPIND1,PI4KA	NM_000185.3,NM_058004.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	179/500,	21134137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134137G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.537G>A	22.37:g.21134137G>A						PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.S179S|PI4KA_ENST00000572273.1_Intron	p.S179S	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	820	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	179					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.537G>A	CCDS13783.1																																																																																				0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		87	352	0	0	0	1	0	87	352				
FBXO18	84893	broad.mit.edu	37	10	5945034	5945034	+	Missense_Mutation	SNP	C	C	T	rs146471049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5945034C>T	ENST00000362091.4	+	2	168	c.53C>T	c.(52-54)gCt>gTt	p.A18V	FBXO18_ENST00000379999.5_Missense_Mutation_p.A69V|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	18					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGCATTTGGCTCGGAGTCAC	0.473																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(205-207)gCt>gTt		F-box protein, helicase, 18		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	105.0	92.0	96.0		206,53	5.4	1.0	10	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO18	NM_032807.3,NM_178150.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	69/1095,18/1044	5945034	1,13005	2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5945034C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.53C>T	10.37:g.5945034C>T	ENSP00000355415:p.Ala18Val					FBXO18_ENST00000362091.4_Missense_Mutation_p.A18V|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron	p.A69V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			3	310	+			18					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.206C>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690765	0.48097	0.0	1.16E-4	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.42	5.42	0.78866	.	0.313315	0.32372	N	0.006184	T	0.50103	0.1596	L	0.53249	1.67	0.80722	D	1	P;B	0.38827	0.649;0.376	B;B	0.33454	0.164;0.079	T	0.56505	-0.7968	9	0.59425	D	0.04	-9.9585	12.1561	0.54077	0.0:0.9177:0.0:0.0823	.	69;18	Q8NFZ0-2;Q8NFZ0	.;FBX18_HUMAN	V	18;69	.	ENSP00000355415:A18V	A	+	2	0	FBXO18	5985040	0.064000	0.20934	0.997000	0.53966	0.328000	0.28507	1.720000	0.38022	2.536000	0.85505	0.655000	0.94253	GCT		0.473	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		47	209	0	0	0	1	0	47	209				
KIAA1257	57501	broad.mit.edu	37	3	128711980	128711980	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128711980C>A	ENST00000265068.5	-	2	335	c.168G>T	c.(166-168)gaG>gaT	p.E56D	KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D|KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000515659.1_5'Flank	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	56										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAGATGAGGACTCGATGCTGC	0.597																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(166-168)gaG>gaT		KIAA1257							96.0	107.0	103.0					3																	128711980		2157	4257	6414	SO:0001583	missense	57501							g.chr3:128711980C>A	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.168G>T	3.37:g.128711980C>A	ENSP00000265068:p.Glu56Asp					KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D	p.E56D	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			2	335	-			56					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.168G>T	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926960	0.34002	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	4.37	-3.11	0.05299	.	.	.	.	.	T	0.13841	0.0335	N	0.24115	0.695	0.09310	N	0.999999	P;P	0.37330	0.59;0.59	B;B	0.31614	0.133;0.133	T	0.14200	-1.0481	8	0.51188	T	0.08	-2.8392	2.5278	0.04695	0.4419:0.2146:0.2505:0.0929	.	56;56	Q9ULG3;D6RH05	K1257_HUMAN;.	D	56	.	ENSP00000265068:E56D	E	-	3	2	KIAA1257	130194670	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.763000	0.04740	-0.451000	0.07097	-1.398000	0.01145	GAG		0.597	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		117	490	1	0	9.16818e-52	1	1.13871e-51	117	490				
VIM	7431	broad.mit.edu	37	10	17277377	17277377	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17277377C>A	ENST00000224237.5	+	6	1363	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	VIM_ENST00000544301.1_Silent_p.G406G|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	406	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTGGAAGGCGAGGAGAGCA	0.502																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1216-1218)ggC>ggA		vimentin							83.0	79.0	80.0					10																	17277377		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277377C>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1218C>A	10.37:g.17277377C>A						VIM_ENST00000224237.5_Silent_p.G406G	p.G406G	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1631	+			406			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.1218C>A	CCDS7120.1																																																																																				0.502	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		57	263	1	0	3.53049e-34	1	4.19639e-34	57	263				
WNK4	65266	broad.mit.edu	37	17	40940387	40940387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40940387C>A	ENST00000246914.5	+	10	2023	c.2002C>A	c.(2002-2004)Ctc>Atc	p.L668I	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	668					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGGAGGAATCTCCGGCGCAG	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(2002-2004)Ctc>Atc		WNK lysine deficient protein kinase 4							46.0	47.0	47.0					17																	40940387		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940387C>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2002C>A	17.37:g.40940387C>A	ENSP00000246914:p.Leu668Ile					WNK4_ENST00000587705.1_3'UTR	p.L668I	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	10	2023	+		Breast(137;0.000143)	668					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2002C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368188	0.42003	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.26373	1.74	5.35	4.37	0.52481	.	0.324291	0.22432	N	0.060131	T	0.19927	0.0479	L	0.34521	1.04	0.30195	N	0.799179	B;B;B;B	0.27351	0.11;0.176;0.11;0.11	B;B;B;B	0.26202	0.046;0.067;0.016;0.03	T	0.09207	-1.0685	10	0.20046	T	0.44	-9.3155	14.022	0.64560	0.164:0.836:0.0:0.0	.	12;668;668;668	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	I	668;440;12	ENSP00000246914:L668I	ENSP00000246914:L668I	L	+	1	0	WNK4	38193913	0.214000	0.23563	0.998000	0.56505	0.947000	0.59692	2.077000	0.41557	1.217000	0.43442	-0.425000	0.05940	CTC		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			43	233	1	0	5.20837e-25	1	5.9682e-25	43	233				
NUS1	116150	broad.mit.edu	37	6	118015211	118015211	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118015211G>A	ENST00000368494.3	+	3	728	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	187					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TTGCCATTTGGCAGTGAAGGT	0.378																																						ENST00000368494.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8						c.(559-561)Gca>Aca		nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)							64.0	67.0	66.0					6																	118015211		2203	4300	6503	SO:0001583	missense	116150				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr6:118015211G>A	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"""Nogo-B receptor"", ""transport and golgi organization 14 homolog (Drosophila)"""	610463	"""chromosome 6 open reading frame 68"""	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.559G>A	6.37:g.118015211G>A	ENSP00000357480:p.Ala187Thr						p.A187T	NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)	3	728	+		all_cancers(87;0.0395)|all_epithelial(87;0.0301)	187					B2RWQ4|O00251	Missense_Mutation	SNP	ENST00000368494.3	37	c.559G>A	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442613	0.12164	.	.	ENSG00000153989	ENST00000368494	T	0.15487	2.42	5.23	2.21	0.28008	.	0.345965	0.34750	N	0.003709	T	0.01905	0.0060	N	0.20766	0.605	0.20403	N	0.99991	B	0.11235	0.004	B	0.11329	0.006	T	0.46331	-0.9199	10	0.02654	T	1	-0.2215	5.2402	0.15467	0.19:0.0:0.4535:0.3565	.	187	Q96E22	NGBR_HUMAN	T	187	ENSP00000357480:A187T	ENSP00000357480:A187T	A	+	1	0	NUS1	118121904	0.021000	0.18746	0.640000	0.29408	0.971000	0.66376	0.198000	0.17217	0.663000	0.31027	0.650000	0.86243	GCA		0.378	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459		90	393	0	0	0	1	0	90	393				
DNAH1	25981	broad.mit.edu	37	3	52360809	52360809	+	Missense_Mutation	SNP	G	G	A	rs373792628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360809G>A	ENST00000420323.2	+	5	901	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	214	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGGGCATCGACTCCAACAA	0.592																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(640-642)Gac>Aac		dynein, axonemal, heavy chain 1		G	ASN/ASP	0,4284		0,0,2142	103.0	123.0	117.0		640	5.6	1.0	3		117	1,8489		0,1,4244	no	missense	DNAH1	NM_015512.4	23	0,1,6386	AA,AG,GG		0.0118,0.0,0.0078	benign	214/4266	52360809	1,12773	2142	4245	6387	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52360809G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.640G>A	3.37:g.52360809G>A	ENSP00000401514:p.Asp214Asn						p.D214N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	5	901	+			214			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.640G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778814	0.49891	0.0	1.18E-4	ENSG00000114841	ENST00000420323	T	0.23950	1.88	5.64	5.64	0.86602	.	0.112641	0.39210	N	0.001427	T	0.20659	0.0497	L	0.35341	1.055	0.44890	D	0.997904	B;B	0.09022	0.001;0.002	B;B	0.10450	0.0;0.005	T	0.04005	-1.0985	10	0.23891	T	0.37	.	13.9344	0.64017	0.0723:0.0:0.9277:0.0	.	214;214	C9JXH6;Q9P2D7-3	.;.	N	214	ENSP00000401514:D214N	ENSP00000401514:D214N	D	+	1	0	DNAH1	52335849	1.000000	0.71417	0.967000	0.41034	0.966000	0.64601	2.950000	0.49081	2.655000	0.90218	0.462000	0.41574	GAC		0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	196	0	0	0	1	0	6	196				
TNFSF8	944	broad.mit.edu	37	9	117666368	117666368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666368G>A	ENST00000223795.2	-	4	661	c.548C>T	c.(547-549)aCg>aTg	p.T183M	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	183					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TACGTGTTTCGTTTGCATTCC	0.423																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(547-549)aCg>aTg		tumor necrosis factor (ligand) superfamily, member 8							260.0	225.0	237.0					9																	117666368		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666368G>A	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.548C>T	9.37:g.117666368G>A	ENSP00000223795:p.Thr183Met					TNFSF8_ENST00000474301.1_Intron	p.T183M	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	661	-			183					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.548C>T	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039876	0.19669	.	.	ENSG00000106952	ENST00000223795	T	0.45276	0.9	5.78	0.459	0.16678	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.606253	0.16417	N	0.215354	T	0.23054	0.0557	L	0.27053	0.805	0.09310	N	1	P	0.44776	0.843	B	0.35813	0.211	T	0.11743	-1.0575	10	0.66056	D	0.02	-10.4583	6.132	0.20211	0.0703:0.3736:0.4276:0.1285	.	183	P32971	TNFL8_HUMAN	M	183	ENSP00000223795:T183M	ENSP00000223795:T183M	T	-	2	0	TNFSF8	116706189	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.824000	0.27379	-0.172000	0.10779	-0.119000	0.15052	ACG		0.423	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			84	508	0	0	0	1	0	84	508				
TUBB6	84617	broad.mit.edu	37	18	12325894	12325894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12325894G>A	ENST00000317702.5	+	4	1340	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	369					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACCTTCATCGGCAACAGCACG	0.612																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(1105-1107)gGc>gAc		tubulin, beta 6 class V							163.0	147.0	152.0					18																	12325894		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325894G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.1106G>A	18.37:g.12325894G>A	ENSP00000318697:p.Gly369Asp					TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron	p.G369D			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	1340	+			369					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.1106G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490287	0.64074	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.82433	-1.61	5.5	5.5	0.81552	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.97688	1.0177	10	0.87932	D	0	.	19.7727	0.96373	0.0:0.0:1.0:0.0	.	341;369	B4DP54;Q9BUF5	.;TBB6_HUMAN	D	369;297;341	ENSP00000318697:G369D	ENSP00000318697:G369D	G	+	2	0	TUBB6	12315894	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.666000	0.98612	2.758000	0.94735	0.563000	0.77884	GGC		0.612	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		222	932	0	0	0	1	0	222	932				
SPSB1	80176	broad.mit.edu	37	1	9416403	9416403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416403C>T	ENST00000328089.6	+	2	794	c.453C>T	c.(451-453)caC>caT	p.H151H	SPSB1_ENST00000357898.3_Silent_p.H151H|SPSB1_ENST00000377399.2_Silent_p.H151H	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	151	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTACCACGATGGCAAGA	0.592																																						ENST00000328089.6																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(451-453)caC>caT		splA/ryanodine receptor domain and SOCS box containing 1							88.0	74.0	79.0					1																	9416403		2203	4300	6503	SO:0001819	synonymous_variant	80176				intracellular signal transduction	cytoplasm		g.chr1:9416403C>T		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.453C>T	1.37:g.9416403C>T						SPSB1_ENST00000357898.3_Silent_p.H151H|SPSB1_ENST00000377399.2_Silent_p.H151H	p.H151H	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	794	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	151			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	37	c.453C>T	CCDS102.1																																																																																				0.592	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		45	418	0	0	0	1	0	45	418				
DCHS2	54798	broad.mit.edu	37	4	155219556	155219556	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155219556A>C	ENST00000357232.4	-	18	4544	c.4545T>G	c.(4543-4545)taT>taG	p.Y1515*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1515	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTCAGAAAATACTCAGTTT	0.478																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4543-4545)taT>taG		dachsous cadherin-related 2							131.0	127.0	128.0					4																	155219556		2203	4300	6503	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219556A>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4545T>G	4.37:g.155219556A>C	ENSP00000349768:p.Tyr1515*						p.Y1515*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4544	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1515			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.4545T>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	43	9.909025	0.99293	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.76	0.333	0.15943	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3991	0.32574	0.5243:0.0:0.4757:0.0	.	.	.	.	X	1515	.	ENSP00000349768:Y1515X	Y	-	3	2	DCHS2	155439006	1.000000	0.71417	0.490000	0.27465	0.763000	0.43281	1.913000	0.39956	0.191000	0.20236	0.528000	0.53228	TAT		0.478	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		121	469	0	0	0	1	0	121	469				
BRWD3	254065	broad.mit.edu	37	X	79932615	79932615	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932615A>C	ENST00000373275.4	-	41	5118	c.4902T>G	c.(4900-4902)gaT>gaG	p.D1634E	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1634					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATCTACGTAATCTTGATCTG	0.393																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4900-4902)gaT>gaG		bromodomain and WD repeat domain containing 3							235.0	216.0	222.0					X																	79932615		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932615A>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4902T>G	X.37:g.79932615A>C	ENSP00000362372:p.Asp1634Glu						p.D1634E	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5118	-			1634					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4902T>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351176	0.41700	.	.	ENSG00000165288	ENST00000373275	T	0.74209	-0.82	4.43	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.30011	N	0.815203	D	0.61697	0.99	P	0.48488	0.579	T	0.55256	-0.8169	9	.	.	.	-12.3016	7.5138	0.27590	0.8194:0.0:0.1806:0.0	.	1634	Q6RI45	BRWD3_HUMAN	E	1634	ENSP00000362372:D1634E	.	D	-	3	2	BRWD3	79819271	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.931000	0.63469	0.575000	0.29434	-0.448000	0.05591	GAT		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		244	801	0	0	0	1	0	244	801				
DNM1P47	100216544	broad.mit.edu	37	15	102304767	102304767	+	RNA	SNP	C	C	T	rs577465516	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102304767C>T	ENST00000561463.1	+	0	12813									DNM1 pseudogene 47																		GCAGGCACAGCGGCGTGACGA	0.597													.|||	16	0.00319489	0.0121	0.0	5008	,	,		27211	0.0		0.0	False		,,,				2504	0.0					ENST00000561463.1																			0																																																			0							g.chr15:102304767C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304767C>T														0	12813	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		11	95	0	0	0	1	0	11	95				
MCM3AP	8888	broad.mit.edu	37	21	47686901	47686901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47686901G>A	ENST00000397708.1	-	11	3038	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	MCM3AP_ENST00000291688.1_Silent_p.S928S			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	928	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTACCCGTCGGAAACGGTGA	0.552																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2782-2784)tcC>tcT		minichromosome maintenance complex component 3 associated protein							70.0	54.0	59.0					21																	47686901		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47686901G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2784C>T	21.37:g.47686901G>A						MCM3AP_ENST00000291688.1_Silent_p.S928S	p.S928S			O60318	MCM3A_HUMAN			11	3038	-	Breast(49;0.112)		928					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.2784C>T	CCDS13734.1																																																																																				0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		30	120	0	0	0	1	0	30	120				
GIMAP8	155038	broad.mit.edu	37	7	150174701	150174701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150174701G>A	ENST00000307271.3	+	5	2405	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	611	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGGCCCAGGAAACCCAGGT	0.453																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1831-1833)Gaa>Aaa		GTPase, IMAP family member 8							75.0	89.0	84.0					7																	150174701		2202	4300	6502	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174701G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1831G>A	7.37:g.150174701G>A	ENSP00000305107:p.Glu611Lys						p.E611K	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2405	+			611						Missense_Mutation	SNP	ENST00000307271.3	37	c.1831G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904574	0.72868	.	.	ENSG00000171115	ENST00000307271	T	0.05996	3.36	4.44	3.51	0.40186	AIG1 (1);	0.000000	0.44097	D	0.000486	T	0.15435	0.0372	L	0.47016	1.485	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.00888	-1.1526	10	0.72032	D	0.01	.	10.3555	0.43960	0.0:0.1985:0.8015:0.0	.	611	Q8ND71	GIMA8_HUMAN	K	611	ENSP00000305107:E611K	ENSP00000305107:E611K	E	+	1	0	GIMAP8	149805634	0.002000	0.14202	0.024000	0.17045	0.006000	0.05464	0.487000	0.22356	2.321000	0.78463	0.655000	0.94253	GAA		0.453	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		101	499	0	0	0	1	0	101	499				
EFCAB7	84455	broad.mit.edu	37	1	64027454	64027454	+	Nonsense_Mutation	SNP	C	C	T	rs144850202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64027454C>T	ENST00000371088.4	+	11	1669	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	475							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGCTAATGATCGAGAAGGAGA	0.353																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1423-1425)Cga>Tga		EF-hand calcium binding domain 7							79.0	83.0	81.0					1																	64027454		2203	4300	6503	SO:0001587	stop_gained	84455						calcium ion binding	g.chr1:64027454C>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1423C>T	1.37:g.64027454C>T	ENSP00000360129:p.Arg475*					EFCAB7_ENST00000461039.1_3'UTR	p.R475*	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			11	1669	+			475					Q658P0|Q96B95|Q96JM6	Nonsense_Mutation	SNP	ENST00000371088.4	37	c.1423C>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	37	6.480789	0.97603	.	.	ENSG00000203965	ENST00000371088	.	.	.	5.76	2.79	0.32731	.	0.256083	0.37669	N	0.002000	.	.	.	.	.	.	0.37285	D	0.907992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6178	11.8871	0.52608	0.2475:0.6335:0.119:0.0	.	.	.	.	X	475	.	ENSP00000360129:R475X	R	+	1	2	EFCAB7	63800042	1.000000	0.71417	0.448000	0.26945	0.491000	0.33493	2.120000	0.41968	0.319000	0.23209	-0.347000	0.07816	CGA		0.353	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		25	221	0	0	0	1	0	25	221				
FCRL3	115352	broad.mit.edu	37	1	157660291	157660291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157660291C>T	ENST00000368184.3	-	9	1735	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	482	Ig-like C2-type 6.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCCCCGGGAGCCCTGAGGGTG	0.537																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1444-1446)Gct>Act		Fc receptor-like 3							39.0	43.0	42.0					1																	157660291		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157660291C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1444G>A	1.37:g.157660291C>T	ENSP00000357167:p.Ala482Thr					FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T	p.A482T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			9	1735	-	all_hematologic(112;0.0378)		482			Ig-like C2-type 6.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1444G>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	4.823	0.153079	0.09185	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03301	3.98;3.98	4.21	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.517600	0.04711	N	0.417545	T	0.01558	0.0050	L	0.44542	1.39	0.09310	N	1	B;B;B	0.30526	0.283;0.225;0.24	B;B;B	0.40329	0.326;0.18;0.219	T	0.48293	-0.9048	10	0.35671	T	0.21	.	2.5846	0.04827	0.1317:0.5025:0.1644:0.2014	.	482;387;482	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	T	482	ENSP00000357169:A482T;ENSP00000357167:A482T	ENSP00000292392:A482T	A	-	1	0	FCRL3	155926915	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.003000	0.13083	-0.174000	0.10743	0.655000	0.94253	GCT		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		115	360	0	0	0	1	0	115	360				
EIF4G1	1981	broad.mit.edu	37	3	184052556	184052556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184052556G>A	ENST00000346169.2	+	33	4931	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000342981.4_Missense_Mutation_p.V1555M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|FAM131A_ENST00000450976.1_5'Flank|FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1554	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACGAGGACGTGGTGAAGGA	0.592																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4663-4665)Gtg>Atg		eukaryotic translation initiation factor 4 gamma, 1							135.0	114.0	122.0					3																	184052556		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184052556G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4660G>A	3.37:g.184052556G>A	ENSP00000316879:p.Val1554Met					EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M|EIF4G1_ENST00000346169.2_Missense_Mutation_p.V1554M	p.V1555M	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		32	5077	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1554			EIF4A-binding.|W2.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4663G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280436	0.59758	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.15	2.35	0.29111	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.071082	0.56097	N	0.000034	D	0.91971	0.7457	M	0.89601	3.045	0.49582	D	0.999802	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68943	0.951;0.961;0.961	D	0.91105	0.4917	10	0.87932	D	0	-3.1884	9.4062	0.38462	0.1802:0.0:0.8198:0.0	.	1561;1555;1554	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	M	1554;1514;1467;1561;1390;1561;1468;1555;1554;1561;1515;1391;1359;1358	ENSP00000316879:V1554M;ENSP00000391935:V1514M;ENSP00000376320:V1467M;ENSP00000371767:V1561M;ENSP00000317600:V1390M;ENSP00000338020:V1561M;ENSP00000407682:V1468M;ENSP00000343450:V1555M;ENSP00000323737:V1554M;ENSP00000416255:V1561M;ENSP00000395974:V1515M;ENSP00000399858:V1391M;ENSP00000411826:V1359M;ENSP00000404754:V1358M	ENSP00000323737:V1554M	V	+	1	0	EIF4G1	185535250	1.000000	0.71417	0.568000	0.28447	0.917000	0.54804	7.675000	0.84002	0.409000	0.25649	0.555000	0.69702	GTG		0.592	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		43	418	0	0	0	1	0	43	418				
OR2T11	127077	broad.mit.edu	37	1	248790026	248790026	+	Missense_Mutation	SNP	C	C	T	rs150548690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248790026C>T	ENST00000330803.2	-	1	465	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACTTCTTGCGGTTCATCAG	0.547																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(403-405)cGc>cAc		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)		C	HIS/ARG	0,4104		0,0,2052	47.0	55.0	52.0		404	-5.7	0.0	1	dbSNP_134	52	1,8463		0,1,4231	no	missense	OR2T11	NM_001001964.1	29	0,1,6283	TT,TC,CC		0.0118,0.0,0.0080	benign	135/317	248790026	1,12567	2052	4232	6284	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790026C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.404G>A	1.37:g.248790026C>T	ENSP00000328934:p.Arg135His						p.R135H	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	465	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		135					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.404G>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.015331	0.00422	0.0	1.18E-4	ENSG00000183130	ENST00000330803	T	0.25250	1.81	4.38	-5.68	0.02436	GPCR, rhodopsin-like superfamily (1);	0.947310	0.08686	N	0.908658	T	0.08447	0.0210	N	0.10837	0.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35151	-0.9800	10	0.10902	T	0.67	.	2.4794	0.04583	0.2046:0.2037:0.1007:0.491	.	135	Q8NH01	O2T11_HUMAN	H	135	ENSP00000328934:R135H	ENSP00000328934:R135H	R	-	2	0	OR2T11	246856649	0.000000	0.05858	0.012000	0.15200	0.082000	0.17680	-0.485000	0.06520	-1.147000	0.02851	-0.877000	0.02976	CGC		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		75	343	0	0	0	1	0	75	343				
BDP1	55814	broad.mit.edu	37	5	70785502	70785502	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70785502A>C	ENST00000358731.4	+	10	1748	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	495					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGAGAAAAACACAAGAGTA	0.348																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1483-1485)aaA>aaC		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							55.0	54.0	54.0					5																	70785502		1829	4072	5901	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70785502A>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1485A>C	5.37:g.70785502A>C	ENSP00000351575:p.Lys495Asn					BDP1_ENST00000380675.2_5'UTR	p.K495N	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	10	1748	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	495					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1485A>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240903	0.39598	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.41758	0.99	5.26	-1.7	0.08159	.	0.086814	0.49305	D	0.000147	T	0.43897	0.1268	L	0.54323	1.7	0.35443	D	0.795076	B;D;D	0.69078	0.09;0.997;0.996	B;P;P	0.62184	0.027;0.899;0.866	T	0.51513	-0.8696	10	0.23891	T	0.37	.	4.4018	0.11390	0.3442:0.3507:0.3052:0.0	.	495;495;495	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	495;495;75;495	ENSP00000351575:K495N	ENSP00000351575:K495N	K	+	3	2	BDP1	70821258	0.015000	0.18098	0.323000	0.25347	0.328000	0.28507	-0.222000	0.09190	0.032000	0.15435	0.379000	0.24179	AAA		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		54	283	0	0	0	1	0	54	283				
CFAP61	26074	broad.mit.edu	37	20	20144736	20144736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20144736T>C	ENST00000245957.5	+	11	1145	c.1069T>C	c.(1069-1071)Tat>Cat	p.Y357H	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		357										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATATGCACAGTATCACCATGT	0.502																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1069-1071)Tat>Cat		chromosome 20 open reading frame 26							128.0	114.0	119.0					20																	20144736		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20144736T>C																												ENST00000245957.5:c.1069T>C	20.37:g.20144736T>C	ENSP00000245957:p.Tyr357His					C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000377309.2_5'UTR	p.Y357H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	11	1145	+			357					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1069T>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	4.349	0.064258	0.08388	.	.	ENSG00000089101	ENST00000340348;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	T;T;T	0.08458	3.09;3.09;3.09	5.36	0.968	0.19680	.	2.004040	0.02619	N	0.102998	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B	0.27932	0.007;0.194;0.0;0.0	B;B;B;B	0.19148	0.001;0.024;0.0;0.0	T	0.32798	-0.9893	10	0.44086	T	0.13	.	1.2688	0.02016	0.2649:0.1475:0.4344:0.1532	.	357;357;312;357	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	H	312;357;357;357;357	ENSP00000245957:Y357H;ENSP00000366521:Y357H;ENSP00000414537:Y357H	ENSP00000245957:Y357H	Y	+	1	0	C20orf26	20092736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.136000	0.15974	0.012000	0.14892	-0.132000	0.14878	TAT		0.502	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			40	348	0	0	0	1	0	40	348				
RTN3	10313	broad.mit.edu	37	11	63487245	63487245	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487245C>A	ENST00000377819.5	+	3	1425	c.1271C>A	c.(1270-1272)tCt>tAt	p.S424Y	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	424					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GTACCTGACTCTTTGAATTCC	0.423																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1270-1272)tCt>tAt		reticulon 3							68.0	68.0	68.0					11																	63487245		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487245C>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1271C>A	11.37:g.63487245C>A	ENSP00000367050:p.Ser424Tyr					RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y	p.S424Y	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1425	+			424					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1271C>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.750587	0.00086	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.19532	2.14;2.14;2.14	5.85	-11.7	0.00046	.	3.215830	0.00741	N	0.001011	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17653	-1.0362	10	0.02654	T	1	19.0572	9.1785	0.37127	0.4456:0.3475:0.2069:0.0	.	312;424;405	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	Y	424;405;312	ENSP00000367050:S424Y;ENSP00000344106:S405Y;ENSP00000442733:S312Y	ENSP00000344106:S405Y	S	+	2	0	RTN3	63243821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.396000	0.02513	-2.885000	0.00317	-0.868000	0.02995	TCT		0.423	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		65	313	1	0	3.57465e-26	1	4.11543e-26	65	313				
KCTD11	147040	broad.mit.edu	37	17	7256385	7256385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256385C>A	ENST00000333751.3	+	1	1178	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	42	BTB.				cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TTTCCTGAGGCTGGGCCGCCT	0.662																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(124-126)Ctg>Atg		potassium channel tetramerization domain containing 11							26.0	26.0	26.0					17																	7256385		2203	4300	6503	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256385C>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.124C>A	17.37:g.7256385C>A	ENSP00000328352:p.Leu42Met					RP11-542C16.1_ENST00000572417.1_RNA	p.L42M	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1178	+		Prostate(122;0.157)	42			BTB.		B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.124C>A	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243281	0.58995	.	.	ENSG00000213859	ENST00000333751	T	0.76578	-1.03	5.27	4.29	0.51040	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.218004	0.22695	U	0.056762	T	0.81517	0.4839	L	0.49778	1.585	0.30483	N	0.772147	D	0.65815	0.995	D	0.68621	0.959	T	0.78081	-0.2343	10	0.59425	D	0.04	.	7.1681	0.25702	0.1675:0.7433:0.0:0.0891	.	42	Q693B1	KCD11_HUMAN	M	42	ENSP00000328352:L42M	ENSP00000328352:L42M	L	+	1	2	KCTD11	7197109	0.002000	0.14202	1.000000	0.80357	0.637000	0.38172	0.356000	0.20181	2.466000	0.83321	0.655000	0.94253	CTG		0.662	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		41	166	1	0	2.52637e-11	1	2.69424e-11	41	166				
SLC34A1	6569	broad.mit.edu	37	5	176820710	176820710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176820710T>C	ENST00000324417.5	+	9	1043	c.952T>C	c.(952-954)Tcc>Ccc	p.S318P	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	318					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTCCATGTCCAGAGCAGA	0.557																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(952-954)Tcc>Ccc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							101.0	89.0	93.0					5																	176820710		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176820710T>C	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.952T>C	5.37:g.176820710T>C	ENSP00000321424:p.Ser318Pro					SLC34A1_ENST00000513614.1_3'UTR	p.S318P	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1043	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	318					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.952T>C	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	T	2.254	-0.370791	0.05034	.	.	ENSG00000131183	ENST00000324417	T	0.32988	1.43	5.39	3.42	0.39159	.	0.942630	0.08896	N	0.877946	T	0.13243	0.0321	N	0.04260	-0.245	0.30022	N	0.814269	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.25751	T	0.34	-27.075	3.302	0.06987	0.0:0.465:0.3367:0.1982	.	318	Q06495	NPT2A_HUMAN	P	318	ENSP00000321424:S318P	ENSP00000321424:S318P	S	+	1	0	SLC34A1	176753316	0.348000	0.24861	0.418000	0.26571	0.016000	0.09150	0.357000	0.20199	0.494000	0.27859	0.379000	0.24179	TCC		0.557	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		18	294	0	0	0	1	0	18	294				
UBAP2	55833	broad.mit.edu	37	9	33953440	33953440	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33953440A>G	ENST00000379238.1	-	12	1016	c.899T>C	c.(898-900)gTt>gCt	p.V300A	UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|SNORD121A_ENST00000459386.1_RNA|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A|UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGTGAGGAACAGGCTTCTG	0.453																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(898-900)gTt>gCt		ubiquitin associated protein 2							88.0	83.0	85.0					9																	33953440		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33953440A>G	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.899T>C	9.37:g.33953440A>G	ENSP00000368540:p.Val300Ala					UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A|UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A	p.V300A			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	12	1016	-			300						Missense_Mutation	SNP	ENST00000379238.1	37	c.899T>C	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443080	0.25987	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T;T	0.32272	2.73;2.73;2.73;2.43;2.46;2.15;1.46	5.85	3.75	0.43078	.	0.868511	0.10085	N	0.717893	T	0.12732	0.0309	N	0.05383	-0.06	0.29230	N	0.873314	B;B;B;B;B;B;B	0.21753	0.001;0.06;0.001;0.001;0.001;0.036;0.041	B;B;B;B;B;B;B	0.24974	0.004;0.012;0.001;0.001;0.001;0.005;0.057	T	0.39035	-0.9633	10	0.02654	T	1	-1.2114	3.8293	0.08867	0.4813:0.1924:0.3263:0.0	.	247;225;55;33;209;225;300	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	A	300;300;300;209;218;33;55;247;247;154	ENSP00000368540:V300A;ENSP00000416932:V300A;ENSP00000354039:V300A;ENSP00000368541:V33A;ENSP00000439329:V55A;ENSP00000404436:V247A;ENSP00000414800:V247A	ENSP00000354039:V300A	V	-	2	0	UBAP2	33943440	0.997000	0.39634	1.000000	0.80357	0.749000	0.42624	1.619000	0.36965	0.527000	0.28560	0.413000	0.27773	GTT		0.453	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		37	214	0	0	0	1	0	37	214				
C17orf49	124944	broad.mit.edu	37	17	6920612	6920612	+	3'UTR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6920612C>A	ENST00000439424.2	+	0	623				MIR497HG_ENST00000385056.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000552775.1_Missense_Mutation_p.S158Y|C17orf49_ENST00000546760.1_Missense_Mutation_p.S149Y|C17orf49_ENST00000546495.1_Missense_Mutation_p.S184Y|MIR497HG_ENST00000385194.1_RNA|C17orf49_ENST00000547709.1_3'UTR|C17orf49_ENST00000552402.1_3'UTR|AC040977.1_ENST00000593646.1_5'Flank|MIR497HG_ENST00000443997.1_RNA|RNASEK-C17orf49_ENST00000547302.2_Missense_Mutation_p.L225M|RP11-589P10.7_ENST00000572547.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						CTCATGACCTCTGCTGATCCT	0.592																																						ENST00000546495.1																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(550-552)tCt>tAt		chromosome 17 open reading frame 49							202.0	175.0	184.0					17																	6920612		2203	4300	6503	SO:0001624	3_prime_UTR_variant	124944				chromatin modification	MLL1 complex|NURF complex	DNA binding	g.chr17:6920612C>A	AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.*28C>A	17.37:g.6920612C>A						C17orf49_ENST00000552402.1_3'UTR|C17orf49_ENST00000439424.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546760.1_Missense_Mutation_p.S149Y|C17orf49_ENST00000552775.1_Missense_Mutation_p.S158Y|C17orf49_ENST00000547709.1_3'UTR|RNASEK-C17orf49_ENST00000607129.1_3'UTR|MIR497HG_ENST00000443997.1_RNA|RNASEK-C17orf49_ENST00000606880.1_3'UTR	p.S184Y			Q8IXM2	BAP18_HUMAN			6	914	+			0					B4DIV3|C9J4G0|E9PB29	Missense_Mutation	SNP	ENST00000439424.2	37	c.551C>A	CCDS32542.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.18|15.18	2.758440|2.758440	0.49468|0.49468	.|.	.|.	ENSG00000161939|ENSG00000258315	ENST00000547302|ENST00000546495;ENST00000546760;ENST00000552775	.|.	.|.	.|.	5.02|5.02	4.02|4.02	0.46733|0.46733	.|.	.|.	.|.	.|.	.|.	T|T	0.46908|0.46908	0.1417|0.1417	L|L	0.29908|0.29908	0.895|0.895	0.31099|0.31099	N|N	0.710612|0.710612	.|P	.|0.41848	.|0.763	.|P	.|0.44359	.|0.447	T|T	0.62487|0.62487	-0.6844|-0.6844	4|7	.|0.72032	.|D	.|0.01	.|.	12.9815|12.9815	0.58567|0.58567	0.0:0.8356:0.1643:0.0|0.0:0.8356:0.1643:0.0	.|.	.|184	.|C9J4G0	.|.	M|Y	225|184;149;158	.|.	.|ENSP00000448598:S184Y	L|S	+|+	1|2	2|0	C17orf49|AC040977.1	6861336|6861336	0.998000|0.998000	0.40836|0.40836	0.803000|0.803000	0.32268|0.32268	0.964000|0.964000	0.63967|0.63967	3.213000|3.213000	0.51153|0.51153	1.076000|1.076000	0.40961|0.40961	0.313000|0.313000	0.20887|0.20887	CTG|TCT		0.592	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407666.1	NM_174893		104	439	1	0	6.17869e-53	1	7.6938e-53	104	439				
ACAP1	9744	broad.mit.edu	37	17	7249714	7249714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7249714C>T	ENST00000158762.3	+	12	1117	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	304	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCCAGGACCCTGTGACTGTG	0.587											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(910-912)cCt>cTt		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							136.0	120.0	125.0					17																	7249714		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7249714C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.911C>T	17.37:g.7249714C>T	ENSP00000158762:p.Pro304Leu		OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640		p.P304L	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			12	1117	+			304			PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.911C>T	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700368	0.48307	.	.	ENSG00000072818	ENST00000158762	T	0.73363	-0.74	5.7	4.73	0.59995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.072080	0.64402	D	0.000014	T	0.65091	0.2658	L	0.28192	0.835	0.80722	D	1	P	0.49559	0.925	P	0.48270	0.572	T	0.64993	-0.6276	10	0.46703	T	0.11	.	7.7447	0.28862	0.0:0.8273:0.0:0.1727	.	304	Q15027	ACAP1_HUMAN	L	304	ENSP00000158762:P304L	ENSP00000158762:P304L	P	+	2	0	ACAP1	7190438	0.293000	0.24371	0.997000	0.53966	0.897000	0.52465	1.853000	0.39358	2.702000	0.92279	0.491000	0.48974	CCT		0.587	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		95	385	0	0	0	1	0	95	385				
WDR11	55717	broad.mit.edu	37	10	122619695	122619695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122619695C>A	ENST00000263461.6	+	4	673	c.427C>A	c.(427-429)Ctc>Atc	p.L143I		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	450					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTACATTGTGCTCTGGAATGC	0.433																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(427-429)Ctc>Atc		WD repeat domain 11							136.0	116.0	123.0					10																	122619695		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619695C>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.427C>A	10.37:g.122619695C>A	ENSP00000263461:p.Leu143Ile						p.L143I	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			4	673	+			143					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.427C>A	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678055	0.68042	.	.	ENSG00000120008	ENST00000263461	T	0.28895	1.59	5.48	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.49126	1.545	0.53005	D	0.999962	D	0.63880	0.993	D	0.70016	0.967	T	0.20940	-1.0260	10	0.32370	T	0.25	-12.9534	10.5797	0.45248	0.0:0.7441:0.0:0.2559	.	143	Q9BZH6	WDR11_HUMAN	I	143	ENSP00000263461:L143I	ENSP00000263461:L143I	L	+	1	0	WDR11	122609685	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.650000	0.46665	1.326000	0.45319	0.591000	0.81541	CTC		0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			84	374	1	0	1.68136e-41	1	2.04314e-41	84	374				
DUSP7	1849	broad.mit.edu	37	3	52087977	52087977	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52087977G>T	ENST00000495880.1	-	2	1114	c.931C>A	c.(931-933)Cct>Act	p.P311T	DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	311	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGGCCTCAGGGAAGAACTGG	0.612																																						ENST00000495880.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(931-933)Cct>Act		dual specificity phosphatase 7							126.0	126.0	126.0					3																	52087977		2203	4300	6503	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52087977G>T	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.931C>A	3.37:g.52087977G>T	ENSP00000417183:p.Pro311Thr					DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T	p.P311T			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1114	-			311			Tyrosine-protein phosphatase.		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.931C>A	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049044	0.93740	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.86030	-2.06;-2.06;-2.06	5.54	5.54	0.83059	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92917	0.6352	10	0.72032	D	0.01	.	19.4497	0.94862	0.0:0.0:1.0:0.0	.	260;311	Q16829-2;Q16829	.;DUS7_HUMAN	T	311;260;244	ENSP00000417183:P311T;ENSP00000296483:P260T;ENSP00000418566:P244T	ENSP00000296483:P260T	P	-	1	0	DUSP7	52063017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.757000	0.94681	0.643000	0.83706	CCT		0.612	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		84	377	1	0	2.61895e-37	1	3.14394e-37	84	377				
USH2A	7399	broad.mit.edu	37	1	216062136	216062136	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216062136T>A	ENST00000307340.3	-	41	8241	c.7855A>T	c.(7855-7857)Aca>Tca	p.T2619S	USH2A_ENST00000366943.2_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2619	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGGGAGTGTCCATACAGTC	0.502										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7855-7857)Aca>Tca		Usher syndrome 2A (autosomal recessive, mild)							86.0	85.0	85.0					1																	216062136		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062136T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7855A>T	1.37:g.216062136T>A	ENSP00000305941:p.Thr2619Ser	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA	p.T2619S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8241	-			2619			Fibronectin type-III 12.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7855A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771514	0.69992	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.65178	-0.14;-0.14	5.84	5.84	0.93424	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000477	T	0.81034	0.4739	M	0.86028	2.79	0.51767	D	0.999934	D	0.89917	1.0	D	0.72075	0.976	T	0.82725	-0.0315	10	0.48119	T	0.1	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	2619	O75445	USH2A_HUMAN	S	2619	ENSP00000305941:T2619S;ENSP00000355910:T2619S	ENSP00000305941:T2619S	T	-	1	0	USH2A	214128759	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	7.442000	0.80503	2.228000	0.72767	0.533000	0.62120	ACA		0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		83	245	0	0	0	1	0	83	245				
COX4I1	1327	broad.mit.edu	37	16	85840345	85840345	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85840345G>A	ENST00000562336.1	+	5	568	c.375G>A	c.(373-375)gtG>gtA	p.V125V	COX4I1_ENST00000561569.1_Splice_Site_p.V125V|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000253452.2_Splice_Site_p.V125V|COX4I1_ENST00000568794.1_3'UTR			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	125					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				ACACCGTAGTGTACGGCCCCC	0.547																																						ENST00000562336.1																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.e5-1		cytochrome c oxidase subunit IV isoform 1							81.0	72.0	75.0					16																	85840345		2198	4300	6498	SO:0001630	splice_region_variant	1327				respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	g.chr16:85840345G>A	AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2265	protein-coding gene	gene with protein product		123864	"""cytochrome c oxidase subunit IV"""	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.374-1G>A	16.37:g.85840345G>A						COX4I1_ENST00000253452.2_Splice_Site_p.V125_splice|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000568794.1_3'UTR|COX4I1_ENST00000561569.1_Splice_Site_p.V125_splice	p.V125_splice			P13073	COX41_HUMAN			5	568	+		Renal(780;0.228)	125					B2R4J2|D3DUM7|Q6P666	Splice_Site	SNP	ENST00000562336.1	37	c.373_splice	CCDS10955.1																																																																																				0.547	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	NM_001861	Silent	16	406	0	0	0	1	0	16	406				
TXNRD2	10587	broad.mit.edu	37	22	19868151	19868151	+	Silent	SNP	G	G	A	rs544242322		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19868151G>A	ENST00000400521.1	-	13	1182	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y	TXNRD2_ENST00000400518.1_Silent_p.Y362Y|TXNRD2_ENST00000535882.1_Silent_p.Y391Y|TXNRD2_ENST00000400519.1_Silent_p.Y391Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	392					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACATTGTCGTAGTCCATCA	0.622																																						ENST00000535882.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1171-1173)taC>taT		thioredoxin reductase 2							44.0	52.0	49.0					22																	19868151		2161	4258	6419	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19868151G>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1176C>T	22.37:g.19868151G>A						TXNRD2_ENST00000400525.1_Silent_p.Y369Y|TXNRD2_ENST00000400518.1_Silent_p.Y362Y|TXNRD2_ENST00000400521.1_Silent_p.Y392Y|TXNRD2_ENST00000400519.1_Silent_p.Y391Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y	p.Y391Y			Q9NNW7	TRXR2_HUMAN			13	1172	-	Colorectal(54;0.0993)		392					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.1173C>T	CCDS42981.1																																																																																				0.622	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		59	213	0	0	0	1	0	59	213				
ATAD3A	55210	broad.mit.edu	37	1	1458924	1458924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1458924G>A	ENST00000378755.5	+	9	1178	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	362					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACCCCAGGACGCGCTGGAGGG	0.711																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1084-1086)Gcg>Acg		ATPase family, AAA domain containing 3A							51.0	50.0	50.0					1																	1458924		2203	4300	6503	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1458924G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1084G>A	1.37:g.1458924G>A	ENSP00000368030:p.Ala362Thr					ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T|ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T	p.A362T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	9	1178	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	362					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1084G>A	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.99|11.99	1.803877|1.803877	0.31869|0.31869	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055|ENST00000339113	D;D;D|.	0.94497|.	-3.22;-3.08;-3.44|.	4.8|4.8	3.89|3.89	0.44902|0.44902	.|.	0.111693|.	0.64402|.	D|.	0.000011|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.85299|0.85299	2.745|2.745	0.50813|0.50813	D|D	0.999893|0.999893	P;D|.	0.59357|.	0.786;0.985|.	B;P|.	0.46253|.	0.382;0.509|.	T|T	0.77752|0.77752	-0.2470|-0.2470	10|5	0.49607|.	T|.	0.09|.	.|.	12.0841|12.0841	0.53688|0.53688	0.084:0.0:0.916:0.0|0.084:0.0:0.916:0.0	.|.	314;362|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	T|H	314;362;235|299	ENSP00000368031:A314T;ENSP00000368030:A362T;ENSP00000439290:A235T|.	ENSP00000368030:A362T|.	A|R	+|+	1|2	0|0	ATAD3A|ATAD3A	1448787|1448787	1.000000|1.000000	0.71417|0.71417	0.724000|0.724000	0.30704|0.30704	0.023000|0.023000	0.10783|0.10783	5.587000|5.587000	0.67510|0.67510	1.025000|1.025000	0.39708|0.39708	0.556000|0.556000	0.70494|0.70494	GCG|CGC		0.711	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		29	136	0	0	0	1	0	29	136				
RGPD3	653489	broad.mit.edu	37	2	107040250	107040250	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040250C>T	ENST00000409886.3	-	20	4260	c.4173G>A	c.(4171-4173)aaG>aaA	p.K1391K	RGPD3_ENST00000304514.7_Silent_p.K1391K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1391	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TACGAACGTGCTTATTATCAT	0.353																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(4171-4173)aaG>aaA		RANBP2-like and GRIP domain containing 3							137.0	104.0	114.0					2																	107040250		692	1591	2283	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107040250C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4173G>A	2.37:g.107040250C>T						RGPD3_ENST00000304514.7_Silent_p.K1391K	p.K1391K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	4260	-			1391			RanBD1 2.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.4173G>A	CCDS46379.1																																																																																				0.353	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		424	1180	0	0	0	1	0	424	1180				
ZFYVE26	23503	broad.mit.edu	37	14	68271970	68271970	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68271970T>C	ENST00000347230.4	-	8	1373	c.1235A>G	c.(1234-1236)cAc>cGc	p.H412R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	412					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACCTCCAGGTGAGCCCACAA	0.602																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(1234-1236)cAc>cGc		zinc finger, FYVE domain containing 26							63.0	51.0	55.0					14																	68271970		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68271970T>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1235A>G	14.37:g.68271970T>C	ENSP00000251119:p.His412Arg					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	p.H412R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	8	1373	-			412					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1235A>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927777	0.73327	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26810	1.85;1.71	5.9	5.9	0.94986	.	0.053647	0.85682	D	0.000000	T	0.43545	0.1252	L	0.51422	1.61	0.42057	D	0.991149	D;D;P	0.67145	0.996;0.992;0.842	P;P;B	0.62089	0.898;0.77;0.138	T	0.21895	-1.0232	10	0.46703	T	0.11	-19.8127	16.3196	0.82941	0.0:0.0:0.0:1.0	.	412;412;412	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	R	412;391;412	ENSP00000251119:H412R;ENSP00000450603:H412R	ENSP00000251119:H412R	H	-	2	0	ZFYVE26	67341723	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.209000	0.65208	2.248000	0.74166	0.459000	0.35465	CAC		0.602	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		14	130	0	0	0	1	0	14	130				
CHAF1B	8208	broad.mit.edu	37	21	37781761	37781761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37781761C>T	ENST00000314103.5	+	10	1068	c.917C>T	c.(916-918)aCa>aTa	p.T306I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	306					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTGGTGGAAACAGGTATCCTC	0.512																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(916-918)aCa>aTa		chromatin assembly factor 1, subunit B (p60)							183.0	168.0	173.0					21																	37781761		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37781761C>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.917C>T	21.37:g.37781761C>T	ENSP00000315700:p.Thr306Ile						p.T306I	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			10	1068	+			306					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.917C>T	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962404	0.34659	.	.	ENSG00000159259	ENST00000314103	T	0.55052	0.54	4.13	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.771278	0.12913	N	0.428808	T	0.47563	0.1452	L	0.58101	1.795	0.80722	D	1	B	0.25955	0.138	B	0.18263	0.021	T	0.48864	-0.8997	10	0.48119	T	0.1	-1.1091	10.2473	0.43350	0.3458:0.6542:0.0:0.0	.	306	Q13112	CAF1B_HUMAN	I	306	ENSP00000315700:T306I	ENSP00000315700:T306I	T	+	2	0	CHAF1B	36703631	0.954000	0.32549	0.960000	0.40013	0.910000	0.53928	2.047000	0.41269	2.283000	0.76528	0.563000	0.77884	ACA		0.512	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		224	766	0	0	0	1	0	224	766				
TBXA2R	6915	broad.mit.edu	37	19	3600484	3600484	+	Missense_Mutation	SNP	G	G	A	rs376053867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3600484G>A	ENST00000375190.4	-	2	542	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	50					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGCGCGCCCGCCAGCACGCT	0.697																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(148-150)gCg>gTg		thromboxane A2 receptor	Ridogrel(DB01207)						16.0	27.0	24.0					19																	3600484		2105	4175	6280	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600484G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.149C>T	19.37:g.3600484G>A	ENSP00000364336:p.Ala50Val					TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V	p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	542	-		Hepatocellular(1079;0.137)	50					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.149C>T	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382300	0.11524	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.56	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.421699	0.23405	N	0.048533	T	0.16385	0.0394	L	0.35723	1.085	0.26961	N	0.965801	B;P	0.36086	0.031;0.536	B;B	0.28385	0.011;0.089	T	0.22591	-1.0212	10	0.02654	T	1	-16.8206	3.4159	0.07376	0.29:0.0:0.5265:0.1836	.	50;50	P21731;E2QRJ2	TA2R_HUMAN;.	V	50	ENSP00000393333:A50V;ENSP00000364336:A50V	ENSP00000364336:A50V	A	-	2	0	TBXA2R	3551484	0.822000	0.29219	0.371000	0.25978	0.224000	0.24922	1.946000	0.40283	0.441000	0.26529	-0.652000	0.03908	GCG		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			29	198	0	0	0	1	0	29	198				
CDH22	64405	broad.mit.edu	37	20	44845469	44845469	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44845469C>T	ENST00000372262.3	-	4	1234	c.834G>A	c.(832-834)ccG>ccA	p.P278P	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.P278P	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTCACTCTGCGGGAAACGGG	0.612																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(832-834)ccG>ccA		cadherin 22, type 2							87.0	82.0	84.0					20																	44845469		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44845469C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.834G>A	20.37:g.44845469C>T						CDH22_ENST00000537909.1_Silent_p.P278P|CDH22_ENST00000474438.1_5'UTR	p.P278P	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			4	1234	-		Myeloproliferative disorder(115;0.0122)	278			Cadherin 3.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.834G>A	CCDS13395.1																																																																																				0.612	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		81	386	0	0	0	1	0	81	386				
MMP14	4323	broad.mit.edu	37	14	23306078	23306078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306078C>T	ENST00000311852.6	+	1	313	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	18					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCTGCTCACGCTCGGCACCGC	0.731											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(52-54)Ctc>Ttc		matrix metallopeptidase 14 (membrane-inserted)							29.0	24.0	26.0					14																	23306078		2203	4298	6501	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23306078C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.52C>T	14.37:g.23306078C>T	ENSP00000308208:p.Leu18Phe		OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	762	MMP14_ENST00000548162.1_3'UTR	p.L18F	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	1	313	+	all_cancers(95;9.47e-05)		18					A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.52C>T	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378692	0.42207	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.63417	2.34;-0.04	4.55	4.55	0.56014	.	2.767510	0.01059	N	0.004607	T	0.60483	0.2272	N	0.08118	0	0.33990	D	0.649053	D	0.58970	0.984	P	0.59595	0.86	T	0.59511	-0.7441	10	0.09590	T	0.72	.	13.0028	0.58685	0.0:1.0:0.0:0.0	.	18	P50281	MMP14_HUMAN	F	18	ENSP00000308208:L18F;ENSP00000450323:L18F	ENSP00000308208:L18F	L	+	1	0	MMP14	22375918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.020000	0.49643	2.524000	0.85096	0.655000	0.94253	CTC		0.731	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		22	191	0	0	0	1	0	22	191				
ESPNP	284729	broad.mit.edu	37	1	17046474	17046474	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17046474A>C	ENST00000492551.1	-	0	178					NR_026567.1				espin pseudogene																		GTAGTGCCTGACGAGAAGCCT	0.622																																						ENST00000492551.1																			0																																																			0							g.chr1:17046474A>C	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17046474A>C								NR_026567.1						0	178	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			31	200	0	0	0	1	0	31	200				
CRB1	23418	broad.mit.edu	37	1	197397131	197397131	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197397131G>T	ENST00000367400.3	+	7	2811	c.2676G>T	c.(2674-2676)aaG>aaT	p.K892N	CRB1_ENST00000535699.1_Splice_Site_p.K823N|CRB1_ENST00000367397.1_Splice_Site_p.K273N|CRB1_ENST00000367399.2_Splice_Site_p.K780N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Splice_Site_p.K373N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	892	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGCTGCAAGGTAATGATTA	0.323																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.e3+1		crumbs homolog 1 (Drosophila)							52.0	50.0	51.0					1																	197397131		2203	4300	6503	SO:0001630	splice_region_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197397131G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2676+1G>T	1.37:g.197397131G>T						CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Splice_Site_p.K823_splice|CRB1_ENST00000367399.2_Splice_Site_p.K780_splice|CRB1_ENST00000544212.1_Splice_Site_p.K373_splice|CRB1_ENST00000367400.3_Splice_Site_p.K892_splice	p.K273_splice			P82279	CRUM1_HUMAN			3	1677	+			892			EGF-like 7; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37	c.819_splice	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	6.139	0.393892	0.11638	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.91464	-2.05;-2.85;-2.85;-2.85;-2.85	4.98	4.06	0.47325	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.85159	0.5633	L	0.28054	0.825	0.43598	D	0.995957	P;B;B;P	0.47841	0.51;0.277;0.055;0.901	B;B;B;P	0.47941	0.333;0.1;0.041;0.562	T	0.80500	-0.1355	9	0.21540	T	0.41	.	8.4454	0.32838	0.0786:0.0:0.7683:0.1531	.	823;780;541;892	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	823;892;780;373;273;541	ENSP00000438786:K823N;ENSP00000356370:K892N;ENSP00000356369:K780N;ENSP00000444556:K373N;ENSP00000356367:K273N	ENSP00000356367:K273N	K	+	3	2	CRB1	195663754	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	1.771000	0.38542	1.209000	0.43321	0.555000	0.69702	AAG		0.323	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Missense_Mutation	6	308	1	0	1	1	1	6	308				
MUC2	4583	broad.mit.edu	37	11	1092185	1092185	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1092185A>G	ENST00000441003.2	+	30	4031	c.4004A>G	c.(4003-4005)gAc>gGc	p.D1335G	MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G|MUC2_ENST00000361558.6_Missense_Mutation_p.D1G|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1335					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCTGAGGACATCGAGTGC	0.572																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(4003-4005)gAc>gGc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						91.0	97.0	95.0					11																	1092185		2127	4225	6352	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1092185A>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4004A>G	11.37:g.1092185A>G	ENSP00000415183:p.Asp1335Gly					MUC2_ENST00000361558.6_Missense_Mutation_p.D1G|MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G	p.D1335G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	4031	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1335					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.4004A>G		.	.	.	.	.	.	.	.	.	.	a	10.11	1.261494	0.23051	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000361558	T;T;T	0.18960	2.4;2.18;2.18	3.03	0.12	0.14691	.	37.455900	0.00839	U	0.001722	T	0.18215	0.0437	L	0.31420	0.93	0.09310	N	1	B	0.28584	0.216	B	0.32289	0.143	T	0.26710	-1.0095	10	0.19147	T	0.46	.	9.2973	0.37824	0.6552:0.3447:0.0:0.0	.	1335	E7EUV1	.	G	1335;1336;1	ENSP00000415183:D1335G;ENSP00000351956:D1336G;ENSP00000354885:D1G	ENSP00000351956:D1336G	D	+	2	0	MUC2	1082185	0.756000	0.28383	0.004000	0.12327	0.108000	0.19459	4.169000	0.58223	0.249000	0.21456	0.382000	0.24955	GAC		0.572	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		25	125	0	0	0	1	0	25	125				
C18orf8	29919	broad.mit.edu	37	18	21084355	21084355	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21084355T>C	ENST00000269221.3	+	2	233	c.123T>C	c.(121-123)ggT>ggC	p.G41G	C18orf8_ENST00000590868.1_Silent_p.G41G	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	41						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCGATCTGGTGGAGCTACTG	0.433																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(121-123)ggT>ggC		chromosome 18 open reading frame 8							217.0	191.0	200.0					18																	21084355		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21084355T>C	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.123T>C	18.37:g.21084355T>C						C18orf8_ENST00000590868.1_Silent_p.G41G	p.G41G	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			2	233	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		41					Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.123T>C	CCDS32803.1																																																																																				0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		108	503	0	0	0	1	0	108	503				
LIPF	8513	broad.mit.edu	37	10	90433384	90433384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90433384T>G	ENST00000238983.4	+	7	755	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	LIPF_ENST00000355843.2_Missense_Mutation_p.F214V|LIPF_ENST00000394375.3_Missense_Mutation_p.F247V|LIPF_ENST00000608620.1_Missense_Mutation_p.F204V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	237					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	ACACAACTTCTTTGATCAATT	0.368																																						ENST00000394375.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13						c.(739-741)Ttt>Gtt		lipase, gastric							179.0	182.0	181.0					10																	90433384		2203	4300	6503	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90433384T>G	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.709T>G	10.37:g.90433384T>G	ENSP00000238983:p.Phe237Val					LIPF_ENST00000355843.2_Missense_Mutation_p.F204V|LIPF_ENST00000238983.4_Missense_Mutation_p.F237V	p.F247V	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	8	852	+		Colorectal(252;0.0161)	237					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.739T>G	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913032	0.72983	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.58652	0.32;0.32;0.32	5.17	2.71	0.32032	Alpha/beta hydrolase fold-1 (1);	0.635334	0.14697	N	0.303773	T	0.52869	0.1761	L	0.41824	1.3	0.09310	N	1	B;B;B;P	0.34412	0.018;0.398;0.036;0.453	B;P;B;P	0.46758	0.098;0.495;0.098;0.526	T	0.45220	-0.9276	10	0.31617	T	0.26	-4.4579	4.1726	0.10336	0.1504:0.1639:0.0:0.6857	.	204;247;214;237	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	V	247;237;204	ENSP00000377900:F247V;ENSP00000238983:F237V;ENSP00000348101:F204V	ENSP00000238983:F237V	F	+	1	0	LIPF	90423364	0.027000	0.19231	0.067000	0.19924	0.952000	0.60782	0.731000	0.26058	0.975000	0.38392	0.533000	0.62120	TTT		0.368	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			144	686	0	0	0	1	0	144	686				
ZNF668	79759	broad.mit.edu	37	16	31072498	31072498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072498G>A	ENST00000538906.1	-	3	2535	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1750-1752)gCc>gTc		zinc finger protein 668							62.0	64.0	64.0					16																	31072498		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072498G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1751C>T	16.37:g.31072498G>A	ENSP00000440149:p.Ala584Val					ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V	p.A584V	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2535	-			584					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1751C>T	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658554	0.67586	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.30634	0.0771	N	0.14661	0.345	0.47476	D	0.99943	D	0.61080	0.989	P	0.57846	0.828	T	0.02736	-1.1117	10	0.27785	T	0.31	-22.282	12.8872	0.58051	0.0:0.164:0.836:0.0	.	584	Q96K58	ZN668_HUMAN	V	607;584;584;584;584	ENSP00000442573:A607V;ENSP00000441349:A584V;ENSP00000440149:A584V;ENSP00000378434:A584V;ENSP00000300849:A584V	ENSP00000300849:A584V	A	-	2	0	ZNF668	30979999	0.877000	0.30153	1.000000	0.80357	0.985000	0.73830	3.882000	0.56160	2.581000	0.87130	0.561000	0.74099	GCC		0.637	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		150	505	0	0	0	1	0	150	505				
IGDCC4	57722	broad.mit.edu	37	15	65688258	65688258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688258G>A	ENST00000352385.2	-	7	1450	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	414	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCAGCGCACGCCATTCCCGC	0.701																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1240-1242)gCg>gTg		immunoglobulin superfamily, DCC subclass, member 4							16.0	15.0	15.0					15																	65688258		2185	4277	6462	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65688258G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1241C>T	15.37:g.65688258G>A	ENSP00000319623:p.Ala414Val						p.A414V	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			7	1450	-			414			Ig-like C2-type 4.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.1241C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771226	0.49680	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.67171	-0.25	4.45	4.45	0.53987	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	N	0.11927	0.2	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65932	-0.6048	10	0.21014	T	0.42	-25.2419	17.4669	0.87635	0.0:0.0:1.0:0.0	.	414	Q8TDY8	IGDC4_HUMAN	V	414;143	ENSP00000319623:A414V	ENSP00000319623:A414V	A	-	2	0	IGDCC4	63475311	1.000000	0.71417	0.021000	0.16686	0.302000	0.27658	9.761000	0.98940	2.187000	0.69744	0.462000	0.41574	GCG		0.701	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		16	55	0	0	0	1	0	16	55				
GLTSCR2	29997	broad.mit.edu	37	19	48255775	48255775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255775G>A	ENST00000246802.5	+	6	714	c.676G>A	c.(676-678)Gca>Aca	p.A226T	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	226						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAGCGGCCAGCACGCCTGCA	0.662																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(676-678)Gca>Aca		glioma tumor suppressor candidate region gene 2							54.0	48.0	50.0					19																	48255775		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48255775G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.676G>A	19.37:g.48255775G>A	ENSP00000246802:p.Ala226Thr					GLTSCR2_ENST00000598681.1_3'UTR	p.A226T	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	6	714	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	226					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.676G>A	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	g	7.465	0.645474	0.14451	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.43688	0.94	4.08	1.93	0.25924	.	1.116760	0.06648	N	0.762308	T	0.23688	0.0573	N	0.12182	0.205	0.09310	N	1	B;B;B	0.19331	0.035;0.028;0.035	B;B;B	0.24394	0.033;0.024;0.053	T	0.30208	-0.9986	10	0.14656	T	0.56	-1.9066	5.7496	0.18140	0.0:0.6922:0.199:0.1088	.	226;226;224	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	T	226	ENSP00000246802:A226T	ENSP00000246802:A226T	A	+	1	0	GLTSCR2	52947587	0.000000	0.05858	0.006000	0.13384	0.108000	0.19459	0.736000	0.26130	0.500000	0.27991	-0.387000	0.06579	GCA		0.662	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		64	295	0	0	0	1	0	64	295				
NPAS4	266743	broad.mit.edu	37	11	66192584	66192584	+	Silent	SNP	G	G	A	rs151135507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66192584G>A	ENST00000311034.2	+	7	2399	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	741					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGCCCCATCGCCTTGCAACA	0.587																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2221-2223)tcG>tcA		neuronal PAS domain protein 4		G		0,4400		0,0,2200	60.0	63.0	62.0		2223	-0.8	0.9	11	dbSNP_134	62	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	NPAS4	NM_178864.3		0,2,6493	AA,AG,GG		0.0233,0.0,0.0154		741/803	66192584	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192584G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2223G>A	11.37:g.66192584G>A							p.S741S	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	2399	+			741					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.2223G>A	CCDS8138.1																																																																																				0.587	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		95	373	0	0	0	1	0	95	373				
TNKS	8658	broad.mit.edu	37	8	9605704	9605704	+	Silent	SNP	G	G	A	rs376610791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9605704G>A	ENST00000310430.6	+	18	2840	c.2814G>A	c.(2812-2814)acG>acA	p.T938T	TNKS_ENST00000518281.1_Silent_p.T701T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	938					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAGGCCAGACGCCTCTGGATC	0.522																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2812-2814)acG>acA		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G		0,4406		0,0,2203	79.0	72.0	75.0		2814	-1.6	1.0	8		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNKS	NM_003747.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		938/1328	9605704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9605704G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2814G>A	8.37:g.9605704G>A						TNKS_ENST00000518281.1_Silent_p.T701T	p.T938T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	18	2840	+			938					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.2814G>A	CCDS5974.1																																																																																				0.522	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		43	161	0	0	0	1	0	43	161				
R3HDM1	23518	broad.mit.edu	37	2	136481790	136481790	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136481790T>C	ENST00000264160.4	+	26	3598	c.3228T>C	c.(3226-3228)gtT>gtC	p.V1076V	R3HDM1_ENST00000409606.1_Silent_p.V1077V|R3HDM1_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000329971.3_Silent_p.V947V|R3HDM1_ENST00000410054.1_Silent_p.V1021V	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1076							poly(A) RNA binding (GO:0044822)	p.V1076V(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTAACTCAGTTAACAAGTTTA	0.448																																						ENST00000264160.4																			1	Substitution - coding silent(1)	p.V1076V(1)	kidney(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(3226-3228)gtT>gtC		R3H domain containing 1							66.0	61.0	63.0					2																	136481790		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136481790T>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.3228T>C	2.37:g.136481790T>C						R3HDM1_ENST00000410054.1_Silent_p.V1021V|R3HDM1_ENST00000409606.1_Silent_p.V1077V|R3HDM1_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000329971.3_Silent_p.V947V	p.V1076V	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	26	3598	+			1076					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.3228T>C	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	T	5.230	0.227914	0.09916	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.74	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9318	8.1282	0.31012	0.0:0.1243:0.4865:0.3891	.	.	.	.	Q	800	.	.	X	+	1	0	R3HDM1	136198260	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.328000	0.19681	0.501000	0.28013	0.459000	0.35465	TAA		0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		15	195	0	0	0	1	0	15	195				
MTSS1L	92154	broad.mit.edu	37	16	70698336	70698336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70698336G>T	ENST00000338779.6	-	15	1762	c.1488C>A	c.(1486-1488)tgC>tgA	p.C496*	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	496					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCACGGAGTAGCAGTCGTAGT	0.672																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1486-1488)tgC>tgA		metastasis suppressor 1-like							23.0	22.0	22.0					16																	70698336		2196	4298	6494	SO:0001587	stop_gained	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698336G>T		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1488C>A	16.37:g.70698336G>T	ENSP00000341171:p.Cys496*					FLJ00418_ENST00000597002.1_5'UTR	p.C496*	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			15	1762	-			496					A6NJI7|Q9BUA8	Nonsense_Mutation	SNP	ENST00000338779.6	37	c.1488C>A	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	38	7.245377	0.98161	.	.	ENSG00000132613	ENST00000338779	.	.	.	4.89	4.89	0.63831	.	0.049273	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-33.5027	11.2412	0.48970	0.0861:0.0:0.9139:0.0	.	.	.	.	X	496	.	ENSP00000341171:C496X	C	-	3	2	MTSS1L	69255837	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.019000	0.49635	2.245000	0.73994	0.462000	0.41574	TGC		0.672	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		20	76	1	0	9.7654e-05	1	9.93505e-05	20	76				
TRPC5	7224	broad.mit.edu	37	X	111155577	111155577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111155577G>A	ENST00000262839.2	-	3	1760	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	281					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTACTTCTGAGGGTCAAGCTC	0.507																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(841-843)cCt>cTt		transient receptor potential cation channel, subfamily C, member 5							214.0	172.0	186.0					X																	111155577		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111155577G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.842C>T	X.37:g.111155577G>A	ENSP00000262839:p.Pro281Leu						p.P281L	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			3	1760	-			281					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.842C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655314	0.47467	.	.	ENSG00000072315	ENST00000262839	T	0.62498	0.02	6.17	6.17	0.99709	.	0.163888	0.53938	D	0.000042	T	0.54791	0.1880	L	0.33339	1.005	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12837	0.003;0.008	T	0.45818	-0.9235	10	0.23891	T	0.37	-35.0497	19.7362	0.96205	0.0:0.0:1.0:0.0	.	282;281	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	281	ENSP00000262839:P281L	ENSP00000262839:P281L	P	-	2	0	TRPC5	111042233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.273000	0.43381	2.618000	0.88619	0.600000	0.82982	CCT		0.507	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		172	567	0	0	0	1	0	172	567				
SPTBN5	51332	broad.mit.edu	37	15	42162667	42162667	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42162667A>G	ENST00000320955.6	-	30	5766	c.5539T>C	c.(5539-5541)Ttg>Ctg	p.L1847L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1847					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGGACTTCCAAGAGATCTCTG	0.647																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5539-5541)Ttg>Ctg		spectrin, beta, non-erythrocytic 5							70.0	75.0	73.0					15																	42162667		2030	4182	6212	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162667A>G	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5539T>C	15.37:g.42162667A>G							p.L1847L	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	30	5766	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1847						Silent	SNP	ENST00000320955.6	37	c.5539T>C																																																																																					0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		28	186	0	0	0	1	0	28	186				
NOP56	10528	broad.mit.edu	37	20	2636076	2636076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636076G>T	ENST00000329276.5	+	6	1191	c.675G>T	c.(673-675)gaG>gaT	p.E225D	SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORA51_ENST00000606420.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	225					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACTGAATGAGGACAAGCTGG	0.542																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(673-675)gaG>gaT		NOP56 ribonucleoprotein							127.0	122.0	124.0					20																	2636076		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636076G>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.675G>T	20.37:g.2636076G>T	ENSP00000370589:p.Glu225Asp						p.E225D	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			6	1191	+			225					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.675G>T	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	7.609	0.674327	0.14841	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.76578	-1.03;0.88	5.69	-3.39	0.04868	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	N	0.11651	0.15	0.54753	D	0.999985	B	0.17465	0.022	B	0.14578	0.011	T	0.25222	-1.0138	10	0.16420	T	0.52	-23.0047	14.4351	0.67274	0.2564:0.0:0.7436:0.0	.	225	O00567	NOP56_HUMAN	D	225;254	ENSP00000370589:E225D;ENSP00000388497:E254D	ENSP00000370589:E225D	E	+	3	2	NOP56	2584076	1.000000	0.71417	0.770000	0.31555	0.980000	0.70556	1.873000	0.39558	-0.531000	0.06340	0.561000	0.74099	GAG		0.542	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		79	323	1	0	1.43161e-34	1	1.70348e-34	79	323				
FSCB	84075	broad.mit.edu	37	14	44975349	44975349	+	Missense_Mutation	SNP	G	G	A	rs139581441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44975349G>A	ENST00000340446.4	-	1	1133	c.842C>T	c.(841-843)gCg>gTg	p.A281V	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTGGGCTCCGCTTTAGCAGT	0.483													G|||	5	0.000998403	0.003	0.0	5008	,	,		16874	0.0		0.001	False		,,,				2504	0.0					ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(841-843)gCg>gTg		fibrous sheath CABYR binding protein		G	VAL/ALA	11,4395	17.9+/-39.9	0,11,2192	55.0	57.0	56.0		842	-7.7	0.0	14	dbSNP_134	56	30,8570	20.4+/-63.3	1,28,4271	yes	missense	FSCB	NM_032135.3	64	1,39,6463	AA,AG,GG		0.3488,0.2497,0.3152	benign	281/826	44975349	41,12965	2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975349G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.842C>T	14.37:g.44975349G>A	ENSP00000344579:p.Ala281Val						p.A281V	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1133	-			281					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.842C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.452098	0.01080	0.002497	0.003488	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.25414	1.8	3.86	-7.73	0.01245	.	.	.	.	.	T	0.11623	0.0283	L	0.29908	0.895	0.09310	N	1	B	0.28971	0.229	B	0.15870	0.014	T	0.12066	-1.0562	9	0.18710	T	0.47	1.4119	6.3551	0.21397	0.1309:0.2257:0.5317:0.1117	.	281	Q5H9T9	FSCB_HUMAN	V	281	ENSP00000344579:A281V	ENSP00000344579:A281V	A	-	2	0	FSCB	44045099	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.261000	0.02855	-2.588000	0.00458	-1.224000	0.01588	GCG		0.483	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		78	306	0	0	0	1	0	78	306				
NOTCH3	4854	broad.mit.edu	37	19	15296201	15296201	+	Missense_Mutation	SNP	C	C	A	rs375173938	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296201C>A	ENST00000263388.2	-	14	2238	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	721	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCAGCCAGGCTCACACACAC	0.692																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2161-2163)gaG>gaT		notch 3							18.0	15.0	16.0					19																	15296201		2178	4252	6430	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15296201C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2163G>T	19.37:g.15296201C>A	ENSP00000263388:p.Glu721Asp						p.E721D	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		14	2238	-			721			EGF-like 18.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2163G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571512	0.13623	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.07	1.76	0.24704	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.256337	0.20577	N	0.089609	T	0.35158	0.0922	L	0.28504	0.86	0.43203	D	0.995058	B;B	0.10296	0.003;0.001	B;B	0.19666	0.016;0.026	T	0.08722	-1.0708	10	0.07175	T	0.84	.	4.3809	0.11293	0.1624:0.59:0.0:0.2476	.	724;721	Q59FL3;Q9UM47	.;NOTC3_HUMAN	D	721;723	ENSP00000263388:E721D	ENSP00000263388:E721D	E	-	3	2	NOTCH3	15157201	0.087000	0.21565	1.000000	0.80357	0.986000	0.74619	-0.638000	0.05452	0.543000	0.28864	0.650000	0.86243	GAG		0.692	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		17	142	1	0	4.14922e-12	1	4.44601e-12	17	142				
NBEAL2	23218	broad.mit.edu	37	3	47042768	47042768	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47042768G>T	ENST00000450053.3	+	29	4663		c.e29-1		NBEAL2_ENST00000292309.5_Splice_Site|NBEAL2_ENST00000383740.2_Splice_Site	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2						blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACCCGCCAGCCTCCTGGAG	0.627																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e29-1		neurobeachin-like 2							63.0	77.0	72.0					3																	47042768		2098	4226	6324	SO:0001630	splice_region_variant	23218						binding	g.chr3:47042768G>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4485-1G>T	3.37:g.47042768G>T						NBEAL2_ENST00000383740.2_Splice_Site|NBEAL2_ENST00000292309.5_Splice_Site		NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	29	4663	+		Acute lymphoblastic leukemia(5;0.0534)						O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	37		CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160308	0.78226	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000416683	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBEAL2	47017772	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.542000	0.98086	2.667000	0.90743	0.563000	0.77884	.		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	Intron	94	400	1	0	7.0627e-44	1	8.63406e-44	94	400				
MMP15	4324	broad.mit.edu	37	16	58079010	58079010	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079010T>C	ENST00000219271.3	+	10	2455	c.1670T>C	c.(1669-1671)aTg>aCg	p.M557T		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	557					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CGGGACTTCATGGGCTGCCAG	0.667																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1669-1671)aTg>aCg		matrix metallopeptidase 15 (membrane-inserted)							16.0	16.0	16.0					16																	58079010		2197	4300	6497	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58079010T>C	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1670T>C	16.37:g.58079010T>C	ENSP00000219271:p.Met557Thr						p.M557T	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			10	2455	+			557			Hemopexin-like 4.		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1670T>C	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057026	0.76074	.	.	ENSG00000102996	ENST00000219271	T	0.02472	4.28	4.65	4.65	0.58169	Hemopexin/matrixin (2);	0.037572	0.85682	D	0.000000	T	0.14227	0.0344	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	T	0.00163	-1.1969	10	0.87932	D	0	.	12.074	0.53632	0.0:0.0:0.0:1.0	.	557	P51511	MMP15_HUMAN	T	557	ENSP00000219271:M557T	ENSP00000219271:M557T	M	+	2	0	MMP15	56636511	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.857000	0.86963	1.958000	0.56883	0.454000	0.30748	ATG		0.667	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		4	100	0	0	0	1	0	4	100				
ACSF3	197322	broad.mit.edu	37	16	89167209	89167209	+	Silent	SNP	G	G	A	rs34972688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167209G>A	ENST00000317447.4	+	3	497	c.120G>A	c.(118-120)tcG>tcA	p.S40S	ACSF3_ENST00000406948.3_Silent_p.S40S|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	40					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCCCGCTCGGACAGGAGCG	0.677																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(118-120)tcG>tcA		acyl-CoA synthetase family member 3							23.0	27.0	26.0					16																	89167209		2196	4297	6493	SO:0001819	synonymous_variant	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167209G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.120G>A	16.37:g.89167209G>A						ACSF3_ENST00000406948.3_Silent_p.S40S|ACSF3_ENST00000378345.4_Intron	p.S40S	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	497	+			40					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	37	c.120G>A	CCDS10974.1																																																																																				0.677	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		64	260	0	0	0	1	0	64	260				
ZNF564	163050	broad.mit.edu	37	19	12638554	12638554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12638554C>A	ENST00000339282.7	-	4	564	c.368G>T	c.(367-369)aGa>aTa	p.R123I	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGGTGAGATCTGATGTGCCT	0.383																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(367-369)aGa>aTa		zinc finger protein 564							117.0	121.0	120.0					19																	12638554		2162	4282	6444	SO:0001583	missense	163050							g.chr19:12638554C>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.368G>T	19.37:g.12638554C>A	ENSP00000340004:p.Arg123Ile					CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.R123I	NM_144976.3	NP_659413.1					4	564	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.368G>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272807	0.59649	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.71	-2.2	0.06994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	M	0.68952	2.095	0.09310	N	0.999995	B	0.24576	0.106	B	0.34931	0.192	T	0.48896	-0.8994	9	0.66056	D	0.02	.	0.3553	0.00355	0.1979:0.2175:0.1971:0.3876	.	123	Q8TBZ8	ZN564_HUMAN	I	123	ENSP00000340004:R123I	ENSP00000340004:R123I	R	-	2	0	ZNF564	12499554	0.000000	0.05858	0.001000	0.08648	0.889000	0.51656	-1.537000	0.02206	-0.514000	0.06488	0.643000	0.83706	AGA		0.383	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		77	319	1	0	1.76847e-28	1	2.05822e-28	77	319				
PDIA4	9601	broad.mit.edu	37	7	148702352	148702352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148702352C>T	ENST00000286091.4	-	9	1635	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	468					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCCACTCTCGCTGAGCCCCAG	0.582											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1402-1404)aGc>aAc		protein disulfide isomerase family A, member 4							208.0	171.0	184.0					7																	148702352		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702352C>T	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1403G>A	7.37:g.148702352C>T	ENSP00000286091:p.Ser468Asn		OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719		p.S468N	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1635	-	Melanoma(164;0.15)		468					A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1403G>A	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531072	0.45073	.	.	ENSG00000155660	ENST00000286091	T	0.33438	1.41	5.24	5.24	0.73138	Thioredoxin-like fold (1);	0.207546	0.64402	D	0.000020	T	0.38161	0.1030	M	0.82323	2.585	0.42745	D	0.993757	B	0.21905	0.062	B	0.21360	0.034	T	0.24333	-1.0163	10	0.31617	T	0.26	.	13.7034	0.62622	0.193:0.807:0.0:0.0	.	468	P13667	PDIA4_HUMAN	N	468	ENSP00000286091:S468N	ENSP00000286091:S468N	S	-	2	0	PDIA4	148333285	0.983000	0.35010	0.995000	0.50966	0.972000	0.66771	3.840000	0.55843	2.445000	0.82738	0.655000	0.94253	AGC		0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		174	673	0	0	0	1	0	174	673				
GRHL1	29841	broad.mit.edu	37	2	10101440	10101440	+	Missense_Mutation	SNP	C	C	T	rs141487705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10101440C>T	ENST00000324907.9	+	4	680	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GRHL1_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	182					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GCCCACTGAGCGGGTGGTGGT	0.542																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(544-546)Cgg>Tgg		grainyhead-like 1 (Drosophila)		C	TRP/ARG	0,4406		0,0,2203	119.0	115.0	117.0		544	5.5	0.9	2	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRHL1	NM_198182.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/619	10101440	1,13005	2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10101440C>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.544C>T	2.37:g.10101440C>T	ENSP00000324693:p.Arg182Trp					GRHL1_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	p.R182W	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	680	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		182					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.544C>T	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181082	0.78677	0.0	1.16E-4	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.13420	2.59;2.6	5.5	5.5	0.81552	.	0.100619	0.64402	D	0.000002	T	0.24470	0.0593	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.52343	0.696	T	0.00287	-1.1846	10	0.39692	T	0.17	.	14.258	0.66065	0.1489:0.8511:0.0:0.0	.	182	Q9NZI5	GRHL1_HUMAN	W	182	ENSP00000384209:R182W;ENSP00000324693:R182W	ENSP00000324693:R182W	R	+	1	2	GRHL1	10018891	1.000000	0.71417	0.902000	0.35471	0.942000	0.58702	4.218000	0.58554	2.594000	0.87642	0.563000	0.77884	CGG		0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		115	566	0	0	0	1	0	115	566				
ZNF628	89887	broad.mit.edu	37	19	55992598	55992598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992598C>T	ENST00000598519.1	+	3	591	c.38C>T	c.(37-39)gCg>gTg	p.A13V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A9V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	13					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCGGACATGGCGCCGGCCTCT	0.692																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(25-27)gCg>gTg		zinc finger protein 628							6.0	7.0	7.0					19																	55992598		2151	4180	6331	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55992598C>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.38C>T	19.37:g.55992598C>T	ENSP00000469591:p.Ala13Val					ZNF628_ENST00000598519.1_Missense_Mutation_p.A13V	p.A9V			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	591	+	Breast(117;0.155)		9					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.26C>T	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	12.60	1.987732	0.35036	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.68	2.61	0.31194	.	0.401667	0.17889	U	0.158600	T	0.04497	0.0123	N	0.08118	0	0.23356	N	0.997846	B	0.13594	0.008	B	0.06405	0.002	T	0.37009	-0.9724	10	0.46703	T	0.11	-6.259	9.5362	0.39224	0.0:0.8899:0.0:0.1101	.	9	Q5EBL2	ZN628_HUMAN	V	9	ENSP00000375598:A9V	ENSP00000375598:A9V	A	+	2	0	ZNF628	60684410	0.139000	0.22563	0.978000	0.43139	0.504000	0.33889	0.442000	0.21628	0.876000	0.35872	0.289000	0.19496	GCG		0.692	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		13	39	0	0	0	1	0	13	39				
TCF25	22980	broad.mit.edu	37	16	89971399	89971399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89971399T>C	ENST00000263346.8	+	14	1579	c.1523T>C	c.(1522-1524)tTt>tCt	p.F508S	RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.F273S	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	508					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGTCACACTTTCTCTGGAAA	0.632																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(1522-1524)tTt>tCt		transcription factor 25 (basic helix-loop-helix)							27.0	28.0	28.0					16																	89971399		2193	4298	6491	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89971399T>C	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1523T>C	16.37:g.89971399T>C	ENSP00000263346:p.Phe508Ser					TCF25_ENST00000263347.7_Missense_Mutation_p.F273S	p.F508S	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	14	1579	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	508					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1523T>C	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	T	7.543	0.661108	0.14645	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.7	3.4	0.38934	.	0.299198	0.40554	N	0.001070	T	0.03827	0.0108	N	0.00057	-2.36	0.28664	N	0.905978	B;B	0.18013	0.021;0.025	B;B	0.13407	0.009;0.009	T	0.26677	-1.0096	9	0.17369	T	0.5	.	4.3785	0.11283	0.0:0.3371:0.0:0.6629	.	273;508	Q9H384;Q9BQ70	.;TCF25_HUMAN	S	508;273	.	ENSP00000263346:F508S	F	+	2	0	TCF25	88498900	0.249000	0.23941	1.000000	0.80357	0.774000	0.43823	0.447000	0.21710	1.000000	0.39049	0.482000	0.46254	TTT		0.632	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		16	64	0	0	0	1	0	16	64				
CR1	1378	broad.mit.edu	37	1	207669657	207669657	+	Silent	SNP	G	G	A	rs375945701		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207669657G>A	ENST00000367049.4	+	1	45	c.45G>A	c.(43-45)ccG>ccA	p.P15P	CR1_ENST00000367053.1_Silent_p.P15P|CR1_ENST00000367051.1_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.P15P|CR1_ENST00000367052.1_Silent_p.P15P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	15					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCGGGCCGCCGGCGCCCGGTC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13255	0.0		0.0	False		,,,				2504	0.0					ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(43-45)ccG>ccA		complement component (3b/4b) receptor 1 (Knops blood group)		G	,	3,3641		0,3,1819	20.0	26.0	24.0		45,45	-3.8	0.0	1		24	0,8142		0,0,4071	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,3,5890	AA,AG,GG		0.0,0.0823,0.0255	,	15/2040,15/2490	207669657	3,11783	1822	4071	5893	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207669657G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.45G>A	1.37:g.207669657G>A						CR1_ENST00000367052.1_Silent_p.P15P|CR1_ENST00000400960.2_Silent_p.P15P|CR1_ENST00000367053.1_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Silent_p.P15P	p.P15P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			1	45	+			15					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.45G>A	CCDS44308.1																																																																																				0.637	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		10	302	0	0	0	1	0	10	302				
CUBN	8029	broad.mit.edu	37	10	17113893	17113893	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113893A>G	ENST00000377833.4	-	18	2444	c.2379T>C	c.(2377-2379)agT>agC	p.S793S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	793	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATCCAGACACTATTAGTAA	0.333																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2377-2379)agT>agC		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						57.0	57.0	57.0					10																	17113893		2203	4299	6502	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17113893A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2379T>C	10.37:g.17113893A>G							p.S793S	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			18	2444	-			793			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.2379T>C	CCDS7113.1																																																																																				0.333	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		36	152	0	0	0	1	0	36	152				
TTC5	91875	broad.mit.edu	37	14	20767555	20767555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20767555C>T	ENST00000258821.3	-	4	505	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	150					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGTGTCAGTCCGCAGCTGACG	0.502																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(448-450)cGg>cAg		tetratricopeptide repeat domain 5							156.0	125.0	136.0					14																	20767555		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20767555C>T	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.449G>A	14.37:g.20767555C>T	ENSP00000258821:p.Arg150Gln						p.R150Q	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	4	505	-	all_cancers(95;0.00092)		150					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.449G>A	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534768	0.27475	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	4.89	1.0	0.19881	Tetratricopeptide-like helical (1);	0.201780	0.44902	N	0.000412	T	0.14270	0.0345	N	0.15975	0.35	0.28403	N	0.918559	B	0.06786	0.001	B	0.04013	0.001	T	0.29243	-1.0018	10	0.12766	T	0.61	.	9.0259	0.36230	0.0:0.6849:0.0:0.3151	.	150	Q8N0Z6	TTC5_HUMAN	Q	150	ENSP00000258821:R150Q	ENSP00000258821:R150Q	R	-	2	0	TTC5	19837395	0.991000	0.36638	0.502000	0.27614	0.937000	0.57800	2.490000	0.45294	0.083000	0.17047	-0.127000	0.14921	CGG		0.502	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		26	330	0	0	0	1	0	26	330				
PHF21A	51317	broad.mit.edu	37	11	45992707	45992707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45992707G>A	ENST00000418153.2	-	7	771	c.572C>T	c.(571-573)gCa>gTa	p.A191V	PHF21A_ENST00000257821.4_Missense_Mutation_p.A191V|PHF21A_ENST00000323180.6_Missense_Mutation_p.A191V			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	191					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GACAGCCTCTGCCCCAGGCCC	0.512																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(571-573)gCa>gTa		PHD finger protein 21A							110.0	91.0	97.0					11																	45992707		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45992707G>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.572C>T	11.37:g.45992707G>A	ENSP00000398824:p.Ala191Val					PHF21A_ENST00000418153.2_Missense_Mutation_p.A191V|PHF21A_ENST00000323180.6_Missense_Mutation_p.A191V	p.A191V	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			7	1195	-			191					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.572C>T	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451365	0.84209	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.51574	0.7;0.7;0.7	5.59	5.59	0.84812	.	0.153764	0.64402	D	0.000015	T	0.54631	0.1870	L	0.54323	1.7	0.58432	D	0.999991	B;D	0.55605	0.265;0.972	B;P	0.48488	0.054;0.579	T	0.55244	-0.8171	10	0.49607	T	0.09	-7.3342	19.5907	0.95509	0.0:0.0:1.0:0.0	.	191;191	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	V	191	ENSP00000257821:A191V;ENSP00000323152:A191V;ENSP00000398824:A191V	ENSP00000257821:A191V	A	-	2	0	PHF21A	45949283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.822000	0.92013	2.640000	0.89533	0.655000	0.94253	GCA		0.512	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		47	176	0	0	0	1	0	47	176				
CAMTA1	23261	broad.mit.edu	37	1	7700507	7700507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7700507G>T	ENST00000303635.7	+	7	765	c.558G>T	c.(556-558)gaG>gaT	p.E186D	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGCCATCGAGGACTGCGGCA	0.612			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(556-558)gaG>gaT		calmodulin binding transcription activator 1							142.0	115.0	124.0					1																	7700507		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700507G>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.558G>T	1.37:g.7700507G>T	ENSP00000306522:p.Glu186Asp					CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	p.E186D	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	7	765	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	186					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.558G>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242079	0.39598	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21361	2.02;2.01	5.36	3.25	0.37280	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.17082	0.46	0.53005	D	0.999968	P	0.45768	0.866	P	0.46510	0.519	T	0.06215	-1.0839	10	0.19147	T	0.46	-24.0721	10.9454	0.47297	0.2021:0.0:0.7979:0.0	.	186	Q9Y6Y1	CMTA1_HUMAN	D	186	ENSP00000306522:E186D;ENSP00000402561:E186D	ENSP00000306522:E186D	E	+	3	2	CAMTA1	7623094	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.992000	0.56980	1.257000	0.44085	0.462000	0.41574	GAG		0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		37	448	1	0	3.21399e-22	1	3.63327e-22	37	448				
TRRAP	8295	broad.mit.edu	37	7	98535413	98535413	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535413C>T	ENST00000359863.4	+	30	4583	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	TRRAP_ENST00000355540.3_Silent_p.S1458S|TRRAP_ENST00000446306.3_Silent_p.S1457S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1458					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAATTCCTTCAATGATA	0.368																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4372-4374)tcC>tcT		transformation/transcription domain-associated protein							60.0	48.0	52.0					7																	98535413		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98535413C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4374C>T	7.37:g.98535413C>T						TRRAP_ENST00000355540.3_Silent_p.S1458S|TRRAP_ENST00000446306.3_Silent_p.S1457S	p.S1458S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		30	4583	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1458					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4374C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256147	0.22965	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.08	3.11	0.35812	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	7.5057	0.27542	0.0:0.6585:0.1185:0.2229	.	.	.	.	L	1173	.	.	P	+	2	0	TRRAP	98373349	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.394000	0.20834	0.837000	0.34925	-0.345000	0.07892	CCT		0.368	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		47	179	0	0	0	1	0	47	179				
ARID5B	84159	broad.mit.edu	37	10	63852705	63852705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63852705C>T	ENST00000279873.7	+	10	3893	c.3483C>T	c.(3481-3483)agC>agT	p.S1161S	ARID5B_ENST00000309334.5_Silent_p.S918S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1161					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCATAACAGCATTTACCCTT	0.483																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3481-3483)agC>agT		AT rich interactive domain 5B (MRF1-like)							136.0	138.0	137.0					10																	63852705		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852705C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3483C>T	10.37:g.63852705C>T						ARID5B_ENST00000309334.5_Silent_p.S918S	p.S1161S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3893	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1161					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.3483C>T	CCDS31208.1																																																																																				0.483	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		124	529	0	0	0	1	0	124	529				
ABCA3	21	broad.mit.edu	37	16	2347331	2347331	+	Splice_Site	SNP	G	G	A	rs370268801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347331G>A	ENST00000301732.5	-	17	2962	c.2262C>T	c.(2260-2262)taC>taT	p.Y754Y	ABCA3_ENST00000382381.3_Splice_Site_p.Y696Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	754	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ACCGCTCACCGTATTTCTGCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19218	0.0		0.0	False		,,,				2504	0.0					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.e17+1		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	63.0	51.0	55.0		2262	-12.3	0.0	16		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		754/1705	2347331	1,12995	2198	4300	6498	SO:0001630	splice_region_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347331G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2263+1C>T	16.37:g.2347331G>A						ABCA3_ENST00000382381.3_Splice_Site_p.Y696_splice	p.Y754_splice	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2962	-		Ovarian(90;0.17)	754			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Splice_Site	SNP	ENST00000301732.5	37	c.2263_splice	CCDS10466.1																																																																																				0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Silent	66	243	0	0	0	1	0	66	243				
AHCTF1	25909	broad.mit.edu	37	1	247081580	247081580	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247081580T>A	ENST00000391829.2	-	2	216	c.93A>T	c.(91-93)gaA>gaT	p.E31D	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E66D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	31	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAAGCACAGATTCTAATGTTA	0.358																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(196-198)gaA>gaT		AT hook containing transcription factor 1							75.0	70.0	72.0					1																	247081580		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247081580T>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.93A>T	1.37:g.247081580T>A	ENSP00000375705:p.Glu31Asp					AHCTF1_ENST00000391829.2_Missense_Mutation_p.E31D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D	p.E66D			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		2	334	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	31			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.198A>T		.	.	.	.	.	.	.	.	.	.	T	12.53	1.966872	0.34659	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829;ENST00000478568	T;T;T	0.32272	1.46;1.47;1.48	5.54	-1.94	0.07571	.	0.153579	0.56097	N	0.000030	T	0.09024	0.0223	N	0.08118	0	0.30697	N	0.750698	B;B	0.20368	0.044;0.033	B;B	0.22753	0.041;0.011	T	0.19877	-1.0292	10	0.07813	T	0.8	-17.0811	0.7897	0.01055	0.1864:0.1884:0.2585:0.3668	.	66;31	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	D	66;40;31;31	ENSP00000355464:E66D;ENSP00000355465:E40D;ENSP00000375705:E31D	ENSP00000355465:E40D	E	-	3	2	AHCTF1	245148203	0.936000	0.31750	0.996000	0.52242	0.971000	0.66376	-0.053000	0.11846	-0.206000	0.10203	-0.438000	0.05819	GAA		0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		29	245	0	0	0	1	0	29	245				
ANKRD11	29123	broad.mit.edu	37	16	89357207	89357207	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89357207A>G	ENST00000301030.4	-	6	887	c.427T>C	c.(427-429)Tct>Cct	p.S143P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S143P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	143					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACACTGTAGACTGGGAGGGG	0.557																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(427-429)Tct>Cct		ankyrin repeat domain 11							85.0	85.0	85.0					16																	89357207		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89357207A>G	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.427T>C	16.37:g.89357207A>G	ENSP00000301030:p.Ser143Pro					ANKRD11_ENST00000378330.2_Missense_Mutation_p.S143P	p.S143P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	6	887	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	143					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.427T>C	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234037	0.79688	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.41758	0.99;0.99	5.3	4.18	0.49190	.	0.061993	0.64402	D	0.000003	T	0.54679	0.1873	L	0.43152	1.355	0.80722	D	1	D;P;D	0.71674	0.998;0.492;0.99	D;B;D	0.77557	0.99;0.287;0.972	T	0.55673	-0.8104	10	0.72032	D	0.01	.	12.1198	0.53885	0.8237:0.1763:0.0:0.0	.	143;157;143	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	P	143;143;157	ENSP00000301030:S143P;ENSP00000367581:S143P	ENSP00000301030:S143P	S	-	1	0	ANKRD11	87884708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.796000	0.62496	0.890000	0.36211	0.459000	0.35465	TCT		0.557	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		25	721	0	0	0	1	0	25	721				
TEX33	339669	broad.mit.edu	37	22	37387247	37387247	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37387247G>A	ENST00000405091.2	-	7	1067	c.816C>T	c.(814-816)aaC>aaT	p.N272N	TEX33_ENST00000381821.1_Silent_p.N272N|TEX33_ENST00000402860.3_Silent_p.N187N			O43247	TEX33_HUMAN	testis expressed 33	272																	TGGATTTGCTGTTTTCTCCAT	0.463																																						ENST00000405091.2																			0											c.(814-816)aaC>aaT		testis expressed 33							188.0	180.0	182.0					22																	37387247		2203	4300	6503	SO:0001819	synonymous_variant	339669							g.chr22:37387247G>A	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.816C>T	22.37:g.37387247G>A						TEX33_ENST00000381821.1_Silent_p.N272N|TEX33_ENST00000402860.3_Silent_p.N187N	p.N272N			O43247	EAN57_HUMAN			7	1067	-			272					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Silent	SNP	ENST00000405091.2	37	c.816C>T	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409488	0.01155	.	.	ENSG00000185264	ENST00000442538	.	.	.	4.96	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999852	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6234	3.4282	0.07418	0.1685:0.5559:0.1795:0.0961	.	.	.	.	X	131	.	.	Q	-	1	0	C22orf33	35717193	0.197000	0.23362	0.263000	0.24496	0.044000	0.14063	0.733000	0.26087	0.199000	0.20427	-0.344000	0.07964	CAG		0.463	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		70	299	0	0	0	1	0	70	299				
ABLIM1	3983	broad.mit.edu	37	10	116203826	116203826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116203826G>A	ENST00000277895.5	-	17	1992	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S572F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S572F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	632					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGCTAACAGAGATGACCTTTC	0.463																																						ENST00000533213.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1714-1716)tCt>tTt		actin binding LIM protein 1							171.0	169.0	170.0					10																	116203826		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116203826G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1895C>T	10.37:g.116203826G>A	ENSP00000277895:p.Ser632Phe					ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000277895.5_Missense_Mutation_p.S632F|ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S572F	p.S572F			O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	17	2016	-		Colorectal(252;0.0373)|Breast(234;0.231)	632					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.1715C>T	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.089915|2.089915	0.36855|0.36855	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.31510	.|1.49;1.49;1.49;1.49	5.38|5.38	3.41|3.41	0.39046|0.39046	.|.	.|0.709815	.|0.13934	.|N	.|0.352708	T|T	0.33294|0.33294	0.0858|0.0858	M|M	0.69823|0.69823	2.125|2.125	0.19575|0.19575	N|N	0.999963|0.999963	.|B;B;B;B;B;B;B;B;B	.|0.32338	.|0.072;0.072;0.365;0.004;0.013;0.323;0.25;0.044;0.137	.|B;B;B;B;B;B;B;B;B	.|0.37451	.|0.012;0.026;0.201;0.004;0.015;0.25;0.127;0.021;0.072	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.20046	.|T	.|0.44	.|.	8.4459|8.4459	0.32841|0.32841	0.0781:0.0:0.77:0.152|0.0781:0.0:0.77:0.152	.|.	.|509;234;572;600;632;309;602;556;255	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	F|F	506|632;572;309;255;600;572;700;556;309;556;509;700;384	.|ENSP00000358256:S572F;ENSP00000376679:S309F;ENSP00000433629:S572F;ENSP00000358270:S309F	.|ENSP00000277895:S700F	L|S	-|-	1|2	0|0	ABLIM1|ABLIM1	116193816|116193816	0.988000|0.988000	0.35896|0.35896	0.013000|0.013000	0.15412|0.15412	0.975000|0.975000	0.68041|0.68041	2.994000|2.994000	0.49433|0.49433	1.271000|1.271000	0.44313|0.44313	0.591000|0.591000	0.81541|0.81541	CTC|TCT		0.463	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			126	488	0	0	0	1	0	126	488				
ZBTB39	9880	broad.mit.edu	37	12	57397725	57397725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397725C>A	ENST00000300101.2	-	2	1062	c.977G>T	c.(976-978)aGt>aTt	p.S326I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTCATCCTCACTGTCATCACT	0.507																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(976-978)aGt>aTt		zinc finger and BTB domain containing 39							236.0	211.0	220.0					12																	57397725		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397725C>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.977G>T	12.37:g.57397725C>A	ENSP00000300101:p.Ser326Ile						p.S326I	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1062	-			326					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.977G>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842889	0.51057	.	.	ENSG00000166860	ENST00000300101	T	0.09723	2.95	4.9	4.9	0.64082	.	0.161766	0.56097	D	0.000036	T	0.23410	0.0566	L	0.38175	1.15	0.47862	D	0.999532	D	0.65815	0.995	D	0.75484	0.986	T	0.00494	-1.1706	10	0.40728	T	0.16	-11.7735	15.6413	0.77006	0.0:1.0:0.0:0.0	.	326	O15060	ZBT39_HUMAN	I	326	ENSP00000300101:S326I	ENSP00000300101:S326I	S	-	2	0	ZBTB39	55683992	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.722000	0.54948	2.547000	0.85894	0.655000	0.94253	AGT		0.507	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		94	879	1	0	3.16549e-35	1	3.77663e-35	94	879				
CLOCK	9575	broad.mit.edu	37	4	56345083	56345083	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56345083A>C	ENST00000309964.4	-	5	405	c.155T>G	c.(154-156)gTt>gGt	p.V52G	CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G|CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	52	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			tttaatgagaacattAAATTG	0.299																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(154-156)gTt>gGt		clock circadian regulator							54.0	54.0	54.0					4																	56345083		2199	4297	6496	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56345083A>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.155T>G	4.37:g.56345083A>C	ENSP00000308741:p.Val52Gly					CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G|CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G|CLOCK_ENST00000506923.1_5'UTR	p.V52G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		5	405	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		52			Helix-loop-helix motif.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.155T>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817389	0.90790	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	D;D;D	0.97831	-4.56;-4.56;-4.56	6.07	6.07	0.98685	Helix-loop-helix DNA-binding (5);	0.165289	0.53938	D	0.000054	D	0.95771	0.8624	L	0.34521	1.04	0.80722	D	1	B	0.28636	0.218	B	0.33121	0.158	D	0.94396	0.7618	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	52	O15516	CLOCK_HUMAN	G	52	ENSP00000308741:V52G;ENSP00000370723:V52G;ENSP00000426983:V52G	ENSP00000308741:V52G	V	-	2	0	CLOCK	56039840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.324000	0.90005	2.326000	0.78906	0.533000	0.62120	GTT		0.299	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		16	67	0	0	0	1	0	16	67				
CLCN7	1186	broad.mit.edu	37	16	1502883	1502883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1502883C>T	ENST00000382745.4	-	15	1831	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000262318.8_Missense_Mutation_p.R385Q|CLCN7_ENST00000448525.1_Missense_Mutation_p.R385Q	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	409					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CAGGCAGGGCCGGTGGATGTA	0.662																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1225-1227)cGg>cAg		chloride channel, voltage-sensitive 7							15.0	14.0	14.0					16																	1502883		2166	4280	6446	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1502883C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1226G>A	16.37:g.1502883C>T	ENSP00000372193:p.Arg409Gln					CLCN7_ENST00000448525.1_Missense_Mutation_p.R385Q|CLCN7_ENST00000262318.8_Missense_Mutation_p.R385Q	p.R409Q	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			15	1831	-		Hepatocellular(780;0.0893)	409					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.1226G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919562	0.52653	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94232	-3.38;-3.38	5.15	5.15	0.70609	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	L	0.39633	1.23	0.80722	D	1	B;P	0.50710	0.09;0.938	B;B	0.36092	0.069;0.217	D	0.87485	0.2423	10	0.22109	T	0.4	-33.6187	17.1754	0.86840	0.0:1.0:0.0:0.0	.	385;409	E9PDB9;P51798	.;CLCN7_HUMAN	Q	385;362;409;351	ENSP00000410907:R385Q;ENSP00000372193:R409Q	ENSP00000262318:R362Q	R	-	2	0	CLCN7	1442884	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.125000	0.77193	2.404000	0.81709	0.561000	0.74099	CGG		0.662	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		12	40	0	0	0	1	0	12	40				
FOXJ2	55810	broad.mit.edu	37	12	8203160	8203160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8203160G>A	ENST00000162391.3	+	10	2725	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	527					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTCTACCCTGGCCCATCACCA	0.522																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1579-1581)gGc>gAc		forkhead box J2							127.0	117.0	120.0					12																	8203160		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8203160G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1580G>A	12.37:g.8203160G>A	ENSP00000162391:p.Gly527Asp					FOXJ2_ENST00000539192.1_3'UTR	p.G527D	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	10	2725	+			527					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1580G>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358698	0.82243	.	.	ENSG00000065970	ENST00000162391	D	0.94457	-3.43	5.13	5.13	0.70059	.	0.799837	0.11621	N	0.545746	D	0.96009	0.8700	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93264	0.6646	10	0.34782	T	0.22	.	13.9541	0.64137	0.0:0.0:1.0:0.0	.	527	Q9P0K8	FOXJ2_HUMAN	D	527	ENSP00000162391:G527D	ENSP00000162391:G527D	G	+	2	0	FOXJ2	8094427	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.819000	0.69243	2.655000	0.90218	0.655000	0.94253	GGC		0.522	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		55	279	0	0	0	1	0	55	279				
OR6C70	390327	broad.mit.edu	37	12	55863420	55863420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55863420G>T	ENST00000327335.4	-	1	502	c.503C>A	c.(502-504)gCt>gAt	p.A168D	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GATATTTGAAGCACAGAAATC	0.353																																						ENST00000327335.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(502-504)gCt>gAt		olfactory receptor, family 6, subfamily C, member 70							84.0	87.0	86.0					12																	55863420		2203	4299	6502	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863420G>T		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.503C>A	12.37:g.55863420G>T	ENSP00000329153:p.Ala168Asp					RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	p.A168D	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN			1	502	-			168						Missense_Mutation	SNP	ENST00000327335.4	37	c.503C>A	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.967877	0.00457	.	.	ENSG00000184954	ENST00000327335	T	0.37235	1.21	4.06	-0.495	0.12030	GPCR, rhodopsin-like superfamily (1);	0.603436	0.14712	N	0.302876	T	0.20129	0.0484	N	0.17278	0.47	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.35968	-0.9767	10	0.02654	T	1	.	8.8381	0.35123	0.0:0.2561:0.4479:0.296	.	168	A6NIJ9	O6C70_HUMAN	D	168	ENSP00000329153:A168D	ENSP00000329153:A168D	A	-	2	0	OR6C70	54149687	0.000000	0.05858	0.095000	0.20976	0.265000	0.26407	0.110000	0.15437	-0.200000	0.10300	0.655000	0.94253	GCT		0.353	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			75	370	1	0	1.08321e-29	1	1.26665e-29	75	370				
CLSTN2	64084	broad.mit.edu	37	3	140277580	140277580	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140277580A>C	ENST00000458420.3	+	12	2112	c.1922A>C	c.(1921-1923)gAc>gCc	p.D641A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	641					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGGGGCACAGACCACTTCTGG	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1921-1923)gAc>gCc		calsyntenin 2							71.0	70.0	70.0					3																	140277580		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277580A>C	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1922A>C	3.37:g.140277580A>C	ENSP00000402460:p.Asp641Ala	HNSCC(16;0.037)					p.D641A	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			12	2112	+			641					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1922A>C	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	8.256	0.810116	0.16537	.	.	ENSG00000158258	ENST00000458420	T	0.28895	1.59	5.27	5.27	0.74061	.	0.374526	0.32301	N	0.006290	T	0.25568	0.0622	L	0.41710	1.295	0.35741	D	0.818657	P	0.49090	0.919	B	0.40256	0.324	T	0.32025	-0.9922	9	.	.	.	-22.7113	13.1571	0.59524	1.0:0.0:0.0:0.0	.	641	Q9H4D0	CSTN2_HUMAN	A	641	ENSP00000402460:D641A	.	D	+	2	0	CLSTN2	141760270	1.000000	0.71417	0.104000	0.21259	0.750000	0.42670	9.339000	0.96797	1.990000	0.58119	0.528000	0.53228	GAC		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		60	304	0	0	0	1	0	60	304				
PHLPP2	23035	broad.mit.edu	37	16	71686695	71686695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71686695C>T	ENST00000568954.1	-	18	3193	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.E872K|PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	939	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAACACACCTCTGTGATGATG	0.557																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2614-2616)Gag>Aag		PH domain and leucine rich repeat protein phosphatase 2							117.0	88.0	98.0					16																	71686695		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71686695C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2815G>A	16.37:g.71686695C>T	ENSP00000457991:p.Glu939Lys					PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000568954.1_Missense_Mutation_p.E939K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K	p.E872K			Q6ZVD8	PHLP2_HUMAN			16	3347	-			939			PP2C-like.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2614G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513646	0.96402	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.41	5.41	0.78517	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.02417	-1.1162	10	0.44086	T	0.13	-18.1224	18.1921	0.89810	0.0:1.0:0.0:0.0	.	872;939	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	K	149;746;939;939;872	ENSP00000445781:E149K;ENSP00000353610:E939K;ENSP00000348611:E939K;ENSP00000377159:E872K	ENSP00000299971:E746K	E	-	1	0	PHLPP2	70244196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.818000	0.86416	2.523000	0.85059	0.655000	0.94253	GAG		0.557	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		41	278	0	0	0	1	0	41	278				
NUP188	23511	broad.mit.edu	37	9	131749134	131749134	+	Silent	SNP	C	C	T	rs141269541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131749134C>T	ENST00000372577.2	+	22	2265	c.2244C>T	c.(2242-2244)caC>caT	p.H748H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	748					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGTGCCACGAGACAGACC	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19582	0.0		0.0	False		,,,				2504	0.0					ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2242-2244)caC>caT		nucleoporin 188kDa		C		1,4405	2.1+/-5.4	0,1,2202	107.0	93.0	98.0		2244	-8.9	0.7	9	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	NUP188	NM_015354.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		748/1750	131749134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131749134C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2244C>T	9.37:g.131749134C>T							p.H748H	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			22	2265	+			748					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.2244C>T	CCDS35156.1																																																																																				0.507	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			60	267	0	0	0	1	0	60	267				
FAM135A	57579	broad.mit.edu	37	6	71236360	71236360	+	Silent	SNP	G	G	A	rs201206743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71236360G>A	ENST00000418814.2	+	15	4187	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000361499.3_Silent_p.S995S|FAM135A_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000505868.1_Silent_p.S1191S|FAM135A_ENST00000370479.3_Silent_p.S978S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1191										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCACTTCTTCGATTTCCTGGT	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		18769	0.0		0.001	False		,,,				2504	0.0					ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3571-3573)tcG>tcA		family with sequence similarity 135, member A							52.0	55.0	54.0					6																	71236360		2203	4299	6502	SO:0001819	synonymous_variant	57579							g.chr6:71236360G>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3573G>A	6.37:g.71236360G>A						FAM135A_ENST00000505868.1_Silent_p.S1191S|FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000370479.3_Silent_p.S978S|FAM135A_ENST00000361499.3_Silent_p.S995S	p.S1191S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	4187	+			1191					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.3573G>A	CCDS55028.1																																																																																				0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		63	325	0	0	0	1	0	63	325				
TOPORS	10210	broad.mit.edu	37	9	32544209	32544209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32544209A>G	ENST00000360538.2	-	3	430	c.314T>C	c.(313-315)aTa>aCa	p.I105T	TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	105	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCCAAGCATATAGGACACTT	0.393																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(313-315)aTa>aCa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							94.0	95.0	95.0					9																	32544209		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544209A>G	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.314T>C	9.37:g.32544209A>G	ENSP00000353735:p.Ile105Thr					TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	p.I105T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	430	-			105			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.314T>C	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972680	0.53614	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.80653	-1.4;-1.4	5.6	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000048	D	0.85596	0.5733	H	0.95043	3.615	0.53005	D	0.999962	B	0.15473	0.013	B	0.19391	0.025	D	0.83933	0.0307	10	0.87932	D	0	-22.7446	10.7379	0.46137	0.9242:0.0:0.0758:0.0	.	105	Q9NS56	TOPRS_HUMAN	T	105;40	ENSP00000353735:I105T;ENSP00000369187:I40T	ENSP00000353735:I105T	I	-	2	0	TOPORS	32534209	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	1.076000	0.40961	0.533000	0.62120	ATA		0.393	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		87	411	0	0	0	1	0	87	411				
HSD17B11	51170	broad.mit.edu	37	4	88278563	88278563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88278563C>T	ENST00000358290.4	-	5	878	c.563G>A	c.(562-564)aGc>aAc	p.S188N	HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	188					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGCAAACTTGCTTGAACTGAA	0.388																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(562-564)aGc>aAc		hydroxysteroid (17-beta) dehydrogenase 11							66.0	62.0	64.0					4																	88278563		2202	4300	6502	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88278563C>T	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.563G>A	4.37:g.88278563C>T	ENSP00000351035:p.Ser188Asn					HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N	p.S188N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	5	878	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	188					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.563G>A	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795814	0.70452	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.90676	-2.71;0.08	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.056065	0.85682	D	0.000000	D	0.97025	0.9028	H	0.98068	4.14	0.40500	D	0.980637	D	0.67145	0.996	D	0.71656	0.974	D	0.98446	1.0589	10	0.87932	D	0	.	14.1698	0.65503	0.0:0.8499:0.1501:0.0	.	188	Q8NBQ5	DHB11_HUMAN	N	188;144	ENSP00000351035:S188N;ENSP00000423775:S144N	ENSP00000351035:S188N	S	-	2	0	HSD17B11	88497587	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.715000	0.47210	2.653000	0.90120	0.561000	0.74099	AGC		0.388	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		22	101	0	0	0	1	0	22	101				
WDR47	22911	broad.mit.edu	37	1	109547290	109547290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109547290C>T	ENST00000369962.3	-	6	1400	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	WDR47_ENST00000400794.3_Missense_Mutation_p.G401D|WDR47_ENST00000357672.3_Missense_Mutation_p.G365D|WDR47_ENST00000369965.4_Missense_Mutation_p.G394D|WDR47_ENST00000361054.3_Missense_Mutation_p.G365D			O94967	WDR47_HUMAN	WD repeat domain 47	393					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAACTCTGGCCCAAGATTTC	0.423																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1093-1095)gGc>gAc		WD repeat domain 47							108.0	117.0	114.0					1																	109547290		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109547290C>T	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1178G>A	1.37:g.109547290C>T	ENSP00000358979:p.Gly393Asp					WDR47_ENST00000369962.3_Missense_Mutation_p.G393D|WDR47_ENST00000369965.4_Missense_Mutation_p.G394D|WDR47_ENST00000361054.3_Missense_Mutation_p.G365D|WDR47_ENST00000400794.3_Missense_Mutation_p.G401D	p.G365D			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	5	1469	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	393					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1094G>A	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114881	0.37339	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.5;0.54;0.5;0.5;0.5	5.58	4.48	0.54585	.	0.685635	0.15061	N	0.282753	T	0.17577	0.0422	N	0.08118	0	0.22280	N	0.999237	B;B;B;B	0.15473	0.013;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.0;0.0;0.0	T	0.13737	-1.0498	10	0.51188	T	0.08	-25.4215	12.4039	0.55428	0.0:0.8018:0.1227:0.0756	.	365;401;393;394	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	401;393;365;394;365	ENSP00000383599:G401D;ENSP00000358979:G393D;ENSP00000354339:G365D;ENSP00000358982:G394D;ENSP00000350301:G365D	ENSP00000350301:G365D	G	-	2	0	WDR47	109348813	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	2.100000	0.41777	2.622000	0.88805	0.650000	0.86243	GGC		0.423	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		75	723	0	0	0	1	0	75	723				
PABPN1	8106	broad.mit.edu	37	14	23793489	23793489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793489G>A	ENST00000216727.4	+	6	1053	c.872G>A	c.(871-873)cGc>cAc	p.R291H	AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318H|PABPN1_ENST00000557702.1_Missense_Mutation_p.R163H|PABPN1_ENST00000397276.2_Missense_Mutation_p.R291H|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318H|PABPN1_ENST00000556821.1_Missense_Mutation_p.R163H	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	291	Interacts with PAPOLA. {ECO:0000250}.|Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R291L(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCCGGGGTCGCGTCTACAGG	0.632																																						ENST00000397276.2																			1	Substitution - Missense(1)	p.R291L(1)	lung(1)	large_intestine(1)|lung(1)|ovary(2)	4						c.(871-873)cGc>cAc		poly(A) binding protein, nuclear 1							75.0	76.0	76.0					14																	23793489		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23793489G>A	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.872G>A	14.37:g.23793489G>A	ENSP00000216727:p.Arg291His					BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318H|PABPN1_ENST00000557702.1_Missense_Mutation_p.R163H|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318H|PABPN1_ENST00000556821.1_Missense_Mutation_p.R163H|PABPN1_ENST00000216727.4_Missense_Mutation_p.R291H	p.R291H						GBM - Glioblastoma multiforme(265;0.00643)	6	885	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.872G>A	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123026	0.77436	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.61392	2.68;2.68;0.11;0.38;2.02;2.04	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.80764	0.987;0.994;0.731	T	0.74438	-0.3665	10	0.46703	T	0.11	-20.7803	18.1036	0.89513	0.0:0.0:1.0:0.0	.	291;291;318	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	H	318;318;291;291;163;163	ENSP00000451320:R318H;ENSP00000452479:R318H;ENSP00000216727:R291H;ENSP00000380446:R291H;ENSP00000451970:R163H;ENSP00000450724:R163H	ENSP00000216727:R291H	R	+	2	0	PABPN1;RP11-124D2.2	22863329	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	8.878000	0.92393	2.581000	0.87130	0.655000	0.94253	CGC		0.632	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		16	657	0	0	0	1	0	16	657				
ZCCHC24	219654	broad.mit.edu	37	10	81192458	81192458	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81192458G>A	ENST00000372336.3	-	2	489	c.303C>T	c.(301-303)atC>atT	p.I101I	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.R42C	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	101							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GGCCATCGGCGATGTTGTTGA	0.617																																						ENST00000372333.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						c.(124-126)Cgc>Tgc		zinc finger, CCHC domain containing 24							93.0	68.0	76.0					10																	81192458		2203	4300	6503	SO:0001819	synonymous_variant	219654						nucleic acid binding|zinc ion binding	g.chr10:81192458G>A	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.303C>T	10.37:g.81192458G>A						ZCCHC24_ENST00000372336.3_Silent_p.I101I	p.R42C			Q8N2G6	ZCH24_HUMAN			2	174	-			21					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.124C>T	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.912981	0.17907	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.96	-0.211	0.13172	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.31535	N	0.660723	B	0.13145	0.007	B	0.09377	0.004	T	0.26643	-1.0097	7	0.87932	D	0	-7.9604	7.8954	0.29704	0.4477:0.0:0.4252:0.1272	.	42	Q5W133	.	C	42	.	ENSP00000361408:R42C	R	-	1	0	ZCCHC24	80862464	0.994000	0.37717	0.856000	0.33681	0.836000	0.47400	0.284000	0.18864	-0.561000	0.06094	-2.048000	0.00412	CGC		0.617	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		38	199	0	0	0	1	0	38	199				
GPR98	84059	broad.mit.edu	37	5	89924519	89924519	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89924519A>G	ENST00000405460.2	+	8	1475	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	460	Calx-beta 4. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTTTGCACAAGGGCAGATG	0.463																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(1378-1380)cAa>cGa		G protein-coupled receptor 98							154.0	151.0	152.0					5																	89924519		1972	4162	6134	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89924519A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1379A>G	5.37:g.89924519A>G	ENSP00000384582:p.Gln460Arg						p.Q460R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	8	1475	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	460			Calx-beta 4.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1379A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281698	0.80692	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30981	1.51	5.72	4.53	0.55603	.	0.116585	0.64402	D	0.000014	T	0.47820	0.1466	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.49428	-0.8941	10	0.62326	D	0.03	.	13.1022	0.59226	0.866:0.134:0.0:0.0	.	460	Q8WXG9	GPR98_HUMAN	R	460	ENSP00000384582:Q460R	ENSP00000296619:Q460R	Q	+	2	0	GPR98	89960275	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.673000	0.68109	1.060000	0.40578	0.528000	0.53228	CAA		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		17	464	0	0	0	1	0	17	464				
ATG101	60673	broad.mit.edu	37	12	52470606	52470606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52470606C>T	ENST00000336854.4	+	4	767	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		97					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TGGGCTGGGGCAGATGTCCTT	0.572																																						ENST00000336854.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(289-291)Cag>Tag		chromosome 12 open reading frame 44							98.0	87.0	90.0					12																	52470606		2203	4300	6503	SO:0001587	stop_gained	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470606C>T																												ENST00000336854.4:c.289C>T	12.37:g.52470606C>T	ENSP00000338990:p.Gln97*						p.Q97*	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	4	767	+			97					Q9HAE2|Q9HBN1	Nonsense_Mutation	SNP	ENST00000336854.4	37	c.289C>T	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999222	0.93227	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000548915;ENST00000550984	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.0403	16.5961	0.84796	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000338990:Q97X	Q	+	1	0	C12orf44	50756873	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	7.252000	0.78309	2.507000	0.84556	0.655000	0.94253	CAG		0.572	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			51	242	0	0	0	1	0	51	242				
LYST	1130	broad.mit.edu	37	1	235972089	235972089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235972089T>C	ENST00000389794.3	-	5	2203	c.2029A>G	c.(2029-2031)Atc>Gtc	p.I677V	LYST_ENST00000389793.2_Missense_Mutation_p.I677V|LYST_ENST00000536965.1_Missense_Mutation_p.I677V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	677					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGGCAGGATCCCTTGAAAT	0.408																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2029-2031)Atc>Gtc		lysosomal trafficking regulator							85.0	89.0	88.0					1																	235972089		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972089T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2029A>G	1.37:g.235972089T>C	ENSP00000374444:p.Ile677Val					LYST_ENST00000389793.2_Missense_Mutation_p.I677V|LYST_ENST00000536965.1_Missense_Mutation_p.I677V	p.I677V			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	2203	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	677					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2029A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017098	0.35606	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68624	-0.34;-0.34;1.11	5.4	4.28	0.50868	.	0.289633	0.33023	N	0.005373	T	0.60366	0.2263	M	0.62723	1.935	0.48511	D	0.999667	B;B	0.17038	0.005;0.02	B;B	0.16289	0.01;0.015	T	0.53479	-0.8433	10	0.19147	T	0.46	.	11.144	0.48419	0.0:0.0727:0.0:0.9273	.	677;677	Q99698-3;Q99698	.;LYST_HUMAN	V	677	ENSP00000374444:I677V;ENSP00000374443:I677V;ENSP00000438315:I677V	ENSP00000374443:I677V	I	-	1	0	LYST	234038712	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.213000	0.51153	0.890000	0.36211	0.533000	0.62120	ATC		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			64	289	0	0	0	1	0	64	289				
CDC42SE2	56990	broad.mit.edu	37	5	130726743	130726743	+	Missense_Mutation	SNP	G	G	A	rs377082180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130726743G>A	ENST00000505065.1	+	5	735	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CDC42SE2_ENST00000503291.1_Missense_Mutation_p.A45T|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	72					phagocytosis (GO:0006909)|regulation of cell shape (GO:0008360)|regulation of signal transduction (GO:0009966)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAATGCCTGCCAATGTCCA	0.498																																						ENST00000505065.1																			0				breast(1)|large_intestine(1)|skin(1)	3						c.(214-216)Gcc>Acc		CDC42 small effector 2							126.0	116.0	119.0					5																	130726743		2203	4300	6503	SO:0001583	missense	56990				phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity	g.chr5:130726743G>A	AF189692	CCDS34224.1	5q31.1	2008-02-05				ENSG00000158985			18547	protein-coding gene	gene with protein product						10816584	Standard	NM_020240		Approved	FLJ21967, SPEC2	uc003kvj.3	Q9NRR3		ENST00000505065.1:c.214G>A	5.37:g.130726743G>A	ENSP00000427421:p.Ala72Thr					CDC42SE2_ENST00000503291.1_Missense_Mutation_p.A45T|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T	p.A72T			Q9NRR3	C42S2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	735	+		all_cancers(142;0.0525)|Breast(839;0.198)	72					B2R622|Q4KMT9	Missense_Mutation	SNP	ENST00000505065.1	37	c.214G>A	CCDS34224.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271740	0.40194	.	.	ENSG00000158985	ENST00000395246;ENST00000503291;ENST00000360515;ENST00000505065	.	.	.	5.32	3.43	0.39272	.	0.147481	0.46758	N	0.000267	T	0.34483	0.0899	.	.	.	0.35614	D	0.808895	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	8	0.22706	T	0.39	-11.125	8.3657	0.32385	0.0841:0.0:0.7605:0.1553	.	72	Q9NRR3	C42S2_HUMAN	T	72;45;72;72	.	ENSP00000353706:A72T	A	+	1	0	CDC42SE2	130754642	1.000000	0.71417	0.717000	0.30585	0.628000	0.37860	4.504000	0.60414	1.630000	0.50440	0.655000	0.94253	GCC		0.498	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	NM_020240		20	421	0	0	0	1	0	20	421				
FABP9	646480	broad.mit.edu	37	8	82370890	82370890	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82370890G>T	ENST00000379071.2	-	3	350	c.295C>A	c.(295-297)Ctt>Att	p.L99I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	99					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCTTTGCCAAGCCATTTTTGG	0.328																																						ENST00000379071.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(295-297)Ctt>Att		fatty acid binding protein 9, testis							103.0	95.0	98.0					8																	82370890		2201	4300	6501	SO:0001583	missense	646480						lipid binding|transporter activity	g.chr8:82370890G>T			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.295C>A	8.37:g.82370890G>T	ENSP00000368362:p.Leu99Ile					RP11-157I4.4_ENST00000524085.2_RNA	p.L99I	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		3	350	-			99						Missense_Mutation	SNP	ENST00000379071.2	37	c.295C>A		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643769	0.29246	.	.	ENSG00000205186	ENST00000379071	T	0.07800	3.16	5.28	4.41	0.53225	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.181563	0.45606	D	0.000357	T	0.06554	0.0168	N	0.22421	0.69	0.27626	N	0.94819	B	0.06786	0.001	B	0.19148	0.024	T	0.18304	-1.0341	10	0.87932	D	0	.	8.8977	0.35474	0.0:0.1633:0.6672:0.1695	.	99	Q0Z7S8	FABP9_HUMAN	I	99	ENSP00000368362:L99I	ENSP00000368362:L99I	L	-	1	0	FABP9	82533445	0.998000	0.40836	0.992000	0.48379	0.537000	0.34900	1.881000	0.39638	1.459000	0.47892	-0.152000	0.13540	CTT		0.328	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		13	267	1	0	5.50884e-06	1	5.65664e-06	13	267				
UBA6	55236	broad.mit.edu	37	4	68490771	68490771	+	Missense_Mutation	SNP	G	G	A	rs375871246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68490771G>A	ENST00000322244.5	-	29	2712	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	885					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCAGCTATGCGCTTTGTTTTG	0.373																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2653-2655)Cgc>Tgc		ubiquitin-like modifier activating enzyme 6		G	CYS/ARG	0,4406		0,0,2203	126.0	115.0	118.0		2653	5.5	1.0	4		118	1,8597	1.2+/-3.3	0,1,4298	no	missense	UBA6	NM_018227.5	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	885/1053	68490771	1,13003	2203	4299	6502	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68490771G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2653C>T	4.37:g.68490771G>A	ENSP00000313454:p.Arg885Cys						p.R885C	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			29	2712	-			885					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.2653C>T	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787040	0.70337	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.46451	0.87	5.52	5.52	0.82312	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.69924	-0.5013	10	0.62326	D	0.03	-13.1519	17.6191	0.88076	0.0:0.0:1.0:0.0	.	885	A0AVT1	UBA6_HUMAN	C	885	ENSP00000313454:R885C	ENSP00000313454:R885C	R	-	1	0	UBA6	68173366	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	5.588000	0.67517	2.566000	0.86566	0.655000	0.94253	CGC		0.373	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		69	263	0	0	0	1	0	69	263				
ATP8B3	148229	broad.mit.edu	37	19	1805955	1805955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1805955G>A	ENST00000310127.6	-	9	991	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ATP8B3_ENST00000525591.1_Silent_p.A198A|ATP8B3_ENST00000526092.2_Silent_p.A198A|ATP8B3_ENST00000539485.1_Silent_p.A251A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	251					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCATGTCGGCCTGGTGTG	0.662																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(751-753)gcC>gcT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							30.0	34.0	32.0					19																	1805955		2065	4182	6247	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1805955G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.753C>T	19.37:g.1805955G>A						ATP8B3_ENST00000310127.6_Silent_p.A251A|ATP8B3_ENST00000525591.1_Silent_p.A198A|ATP8B3_ENST00000526092.1_Silent_p.A198A	p.A251A			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	986	-		Hepatocellular(1079;0.137)	251					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.753C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	g	0.596	-0.830887	0.02713	.	.	ENSG00000130270	ENST00000533993	.	.	.	3.75	-3.8	0.04307	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	.	1.676	0.02822	0.3007:0.1065:0.3783:0.2145	.	.	.	.	L	214	.	.	P	-	2	0	ATP8B3	1756955	0.000000	0.05858	0.869000	0.34112	0.153000	0.21895	-2.113000	0.01331	-0.804000	0.04410	-1.644000	0.00765	CCG		0.662	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		29	194	0	0	0	1	0	29	194				
RFTN1	23180	broad.mit.edu	37	3	16419338	16419338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16419338C>T	ENST00000334133.4	-	5	985	c.713G>A	c.(712-714)aGc>aAc	p.S238N	RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	238					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGAGGGTGAGCTGGGCTGCTT	0.642																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(712-714)aGc>aAc		raftlin, lipid raft linker 1							53.0	56.0	55.0					3																	16419338		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16419338C>T	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.713G>A	3.37:g.16419338C>T	ENSP00000334153:p.Ser238Asn					RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	p.S238N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			5	985	-			238					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.713G>A	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308571	0.40895	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.49720	1.43;1.44;0.77	5.36	2.57	0.30868	.	2.132120	0.01784	N	0.031937	T	0.31136	0.0787	N	0.16307	0.4	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.11329	0.004;0.006	T	0.26467	-1.0102	10	0.02654	T	1	-1.0799	8.8139	0.34985	0.0:0.6756:0.0:0.3244	.	202;238	G3XAJ6;Q14699	.;RFTN1_HUMAN	N	202;238;238	ENSP00000403926:S202N;ENSP00000334153:S238N;ENSP00000403997:S238N	ENSP00000334153:S238N	S	-	2	0	RFTN1	16394342	0.000000	0.05858	0.015000	0.15790	0.471000	0.32888	-0.151000	0.10175	0.640000	0.30582	0.561000	0.74099	AGC		0.642	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		12	271	0	0	0	1	0	12	271				
WDR17	116966	broad.mit.edu	37	4	177073091	177073091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073091C>A	ENST00000280190.4	+	18	2661	c.2505C>A	c.(2503-2505)taC>taA	p.Y835*	WDR17_ENST00000393643.2_Nonsense_Mutation_p.Y811*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.Y811*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Y818*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	835										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCAGAGATACTGTGAACTTA	0.348																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2431-2433)taC>taA		WD repeat domain 17							102.0	101.0	101.0					4																	177073091		2203	4300	6503	SO:0001587	stop_gained	116966							g.chr4:177073091C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2505C>A	4.37:g.177073091C>A	ENSP00000280190:p.Tyr835*					WDR17_ENST00000280190.4_Nonsense_Mutation_p.Y835*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Y818*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.Y811*	p.Y811*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	17	2685	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	835					E7EQX0|Q0QD35	Nonsense_Mutation	SNP	ENST00000280190.4	37	c.2433C>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.143522|8.143522	0.98675|0.98675	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|.	.|.	.|.	5.55|5.55	0.847|0.847	0.18961|0.18961	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.23014|.	0.0556|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40289|.	-0.9571|.	3|.	.|0.02654	.|T	.|1	-17.2167|-17.2167	10.4311|10.4311	0.44409|0.44409	0.0:0.5262:0.0:0.4738|0.0:0.5262:0.0:0.4738	.|.	.|.	.|.	.|.	M|X	78|811;811;835;818	.|.	.|ENSP00000280190:Y835X	L|Y	+|+	1|3	2|2	WDR17|WDR17	177310085|177310085	0.769000|0.769000	0.28531|0.28531	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	-0.069000|-0.069000	0.11542|0.11542	0.062000|0.062000	0.16340|0.16340	0.549000|0.549000	0.68633|0.68633	CTG|TAC		0.348	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			8	272	1	0	0.000673444	1	0.000681208	8	272				
ABCA8	10351	broad.mit.edu	37	17	66925243	66925243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925243C>T	ENST00000269080.2	-	8	1209	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ABCA8_ENST00000586539.1_Missense_Mutation_p.E358K|ABCA8_ENST00000430352.2_Missense_Mutation_p.E358K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	358					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAATCCACTCCAAGGATGCA	0.478																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1072-1074)Gag>Aag		ATP-binding cassette, sub-family A (ABC1), member 8							96.0	78.0	84.0					17																	66925243		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66925243C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1072G>A	17.37:g.66925243C>T	ENSP00000269080:p.Glu358Lys					ABCA8_ENST00000430352.2_Missense_Mutation_p.E358K|ABCA8_ENST00000586539.1_Missense_Mutation_p.E358K	p.E358K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			8	1209	-	Breast(10;4.56e-13)		358					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1072G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962589	0.53400	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86164	-2.08;-2.08	4.67	4.67	0.58626	.	0.000000	0.51477	D	0.000085	T	0.82102	0.4964	M	0.67953	2.075	0.36977	D	0.894113	P;B;B;B;B	0.36125	0.538;0.048;0.001;0.009;0.048	B;B;B;B;B	0.33750	0.169;0.126;0.012;0.062;0.072	T	0.79997	-0.1567	10	0.02654	T	1	.	13.2739	0.60177	0.0:0.8394:0.1606:0.0	.	297;358;358;358;358	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	K	358;358;297	ENSP00000269080:E358K;ENSP00000402814:E358K	ENSP00000269080:E358K	E	-	1	0	ABCA8	64436838	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.417000	0.44653	2.592000	0.87571	0.655000	0.94253	GAG		0.478	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		43	190	0	0	0	1	0	43	190				
TMEM131	23505	broad.mit.edu	37	2	98373796	98373796	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373796G>T	ENST00000186436.5	-	41	5646	c.5418C>A	c.(5416-5418)agC>agA	p.S1806R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1806	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACCAAATGGAGCTGCTGAATG	0.602																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5416-5418)agC>agA		transmembrane protein 131							145.0	148.0	147.0					2																	98373796		2146	4246	6392	SO:0001583	missense	23505					integral to membrane		g.chr2:98373796G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5418C>A	2.37:g.98373796G>T	ENSP00000186436:p.Ser1806Arg						p.S1806R	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			41	5646	-			1806			Ser-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.5418C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304642	0.60305	.	.	ENSG00000075568	ENST00000186436	T	0.38077	1.16	5.48	2.51	0.30379	.	0.294098	0.46758	D	0.000266	T	0.24624	0.0597	L	0.32530	0.975	0.80722	D	1	B;P	0.41188	0.058;0.741	B;B	0.39258	0.03;0.295	T	0.02676	-1.1125	10	0.46703	T	0.11	-1.3683	7.3311	0.26584	0.4024:0.0:0.5976:0.0	.	1806;186	Q92545;Q0P631	TM131_HUMAN;.	R	1806	ENSP00000186436:S1806R	ENSP00000186436:S1806R	S	-	3	2	TMEM131	97740228	0.956000	0.32656	0.852000	0.33557	0.931000	0.56810	1.564000	0.36375	0.874000	0.35823	0.643000	0.83706	AGC		0.602	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		90	298	1	0	8.55712e-49	1	1.05692e-48	90	298				
INPP5A	3632	broad.mit.edu	37	10	134563063	134563063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134563063G>A	ENST00000368594.3	+	10	1052	c.775G>A	c.(775-777)Gac>Aac	p.D259N	INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	259					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCGGGCCGCCGACACCAATGA	0.632																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(775-777)Gac>Aac		inositol polyphosphate-5-phosphatase, 40kDa							72.0	64.0	67.0					10																	134563063		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563063G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.775G>A	10.37:g.134563063G>A	ENSP00000357583:p.Asp259Asn					INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	p.D259N	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	10	1052	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	259					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.775G>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148323	0.21288	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.50277	0.75;0.75	5.1	5.1	0.69264	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.252635	0.45361	D	0.000366	T	0.50360	0.1611	N	0.26130	0.795	0.58432	D	0.999998	D;D	0.67145	0.98;0.996	P;P	0.57846	0.733;0.828	T	0.33828	-0.9853	10	0.15066	T	0.55	-37.3962	18.9259	0.92544	0.0:0.0:1.0:0.0	.	259;259	Q14642;Q5T1B5	I5P1_HUMAN;.	N	259;259;176	ENSP00000357583:D259N;ENSP00000357582:D259N	ENSP00000357582:D259N	D	+	1	0	INPP5A	134413053	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	6.871000	0.75531	2.547000	0.85894	0.655000	0.94253	GAC		0.632	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		59	318	0	0	0	1	0	59	318				
CLIP2	7461	broad.mit.edu	37	7	73753262	73753262	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73753262G>A	ENST00000395060.1	+	2	606	c.606G>A	c.(604-606)tcG>tcA	p.S202S	CLIP2_ENST00000223398.6_Silent_p.S202S|CLIP2_ENST00000361545.5_Silent_p.S202S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	202						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAACGAGTCGGGATCCAACC	0.667																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(604-606)tcG>tcA		CAP-GLY domain containing linker protein 2							34.0	34.0	34.0					7																	73753262		2093	4130	6223	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73753262G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.606G>A	7.37:g.73753262G>A						CLIP2_ENST00000361545.5_Silent_p.S202S|CLIP2_ENST00000395060.1_Silent_p.S202S	p.S202S	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			3	933	+			202					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.606G>A	CCDS5569.1																																																																																				0.667	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		66	356	0	0	0	1	0	66	356				
SMARCAL1	50485	broad.mit.edu	37	2	217315692	217315692	+	Missense_Mutation	SNP	C	C	T	rs148893764		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217315692C>T	ENST00000357276.4	+	12	2305	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	659					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCAAGCAGCGCAAGATAGT	0.587									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(1975-1977)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	61.0	61.0		1975,1975	5.5	1.0	2	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	SMARCAL1	NM_001127207.1,NM_014140.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	659/955,659/955	217315692	1,13005	2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217315692C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1975C>T	2.37:g.217315692C>T	ENSP00000349823:p.Arg659Cys					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	p.R659C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	12	2305	+		Renal(323;0.0458)	659					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.1975C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126659	0.94429	2.27E-4	0.0	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.92858	-3.12;-3.12;-0.99	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97898	1.0301	10	0.87932	D	0	-5.1217	18.3269	0.90258	0.0:1.0:0.0:0.0	.	659	Q9NZC9	SMAL1_HUMAN	C	659;659;501	ENSP00000349823:R659C;ENSP00000350940:R659C;ENSP00000375974:R501C	ENSP00000349823:R659C	R	+	1	0	SMARCAL1	217023937	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.897000	0.69831	2.559000	0.86315	0.650000	0.86243	CGC		0.587	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			88	258	0	0	0	1	0	88	258				
TMEM201	199953	broad.mit.edu	37	1	9661466	9661466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661466G>A	ENST00000340381.6	+	5	919	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	TMEM201_ENST00000340305.5_Missense_Mutation_p.G304S|TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	304					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGCACTGGGCCTACTCAC	0.672																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(910-912)Ggc>Agc		transmembrane protein 201							37.0	41.0	40.0					1																	9661466		2203	4297	6500	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9661466G>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.910G>A	1.37:g.9661466G>A	ENSP00000344503:p.Gly304Ser					TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S|TMEM201_ENST00000340381.6_Missense_Mutation_p.G304S	p.G304S	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	919	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	304					B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.910G>A	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.031350|4.031350	0.75504|0.75504	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67002|0.67002	0.2847|0.2847	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999974|0.999974	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.70432|0.70432	-0.4873|-0.4873	6|9	.|0.72032	.|D	.|0.01	-37.3398|-37.3398	14.3284|14.3284	0.66534|0.66534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|304;304	.|E9PBR6;Q5SNT2-2	.|.;.	E|S	213|304	.|.	.|ENSP00000344772:G304S	G|G	+|+	2|1	0|0	TMEM201|TMEM201	9584053|9584053	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.379000|0.379000	0.30106|0.30106	6.604000|6.604000	0.74150|0.74150	2.160000|2.160000	0.67779|0.67779	0.563000|0.563000	0.77884|0.77884	GGG|GGC		0.672	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		16	364	0	0	0	1	0	16	364				
CSDE1	7812	broad.mit.edu	37	1	115275328	115275328	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115275328A>G	ENST00000358528.4	-	10	1373	c.947T>C	c.(946-948)gTt>gCt	p.V316A	CSDE1_ENST00000438362.2_Missense_Mutation_p.V362A|CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	316	CSD 4; truncated.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAAACCTAACATGGTCACC	0.418																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1084-1086)gTt>gCt		cold shock domain containing E1, RNA-binding							196.0	191.0	193.0					1																	115275328		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115275328A>G		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.947T>C	1.37:g.115275328A>G	ENSP00000351329:p.Val316Ala					CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A|CSDE1_ENST00000358528.4_Missense_Mutation_p.V316A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A	p.V362A	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1463	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	316			CSD 5.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1085T>C	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977568	0.74360	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.114155	0.64402	D	0.000011	T	0.41743	0.1172	L	0.47190	1.495	0.58432	D	0.999999	B;B;P	0.35872	0.189;0.39;0.525	B;B;B	0.34722	0.024;0.092;0.188	T	0.52601	-0.8554	9	0.87932	D	0	-7.1035	16.2903	0.82747	1.0:0.0:0.0:0.0	.	331;316;362	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	A	285;362;316;285;186;331;316	.	ENSP00000261443:V285A	V	-	2	0	CSDE1	115076851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	GTT		0.418	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		21	559	0	0	0	1	0	21	559				
ADAMTSL1	92949	broad.mit.edu	37	9	18681875	18681875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18681875G>A	ENST00000380548.4	+	12	1746	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	469	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATCGAGGAATGCACACAGGAG	0.517																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1405-1407)atG>atA		ADAMTS-like 1							235.0	216.0	222.0					9																	18681875		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18681875G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1407G>A	9.37:g.18681875G>A	ENSP00000369921:p.Met469Ile					ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.M469I	p.M469I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	12	1746	+			469			TSP type-1 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1407G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577051	0.28092	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000276935	T;T;T	0.53423	0.62;0.62;0.62	5.71	4.81	0.61882	.	.	.	.	.	T	0.25865	0.0630	N	0.04335	-0.225	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06075	-1.0847	9	0.39692	T	0.17	.	10.9033	0.47065	0.1429:0.0:0.8571:0.0	.	469	Q8N6G6	ATL1_HUMAN	I	469	ENSP00000369921:M469I;ENSP00000327887:M469I;ENSP00000276935:M469I	ENSP00000276935:M469I	M	+	3	0	ADAMTSL1	18671875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.337000	0.33862	1.558000	0.49541	0.650000	0.86243	ATG		0.517	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			178	815	0	0	0	1	0	178	815				
MAN1C1	57134	broad.mit.edu	37	1	25944734	25944734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25944734G>A	ENST00000374332.4	+	1	776	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AACGCATTCCGGAGCCGTCTC	0.682																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(445-447)cGg>cAg		mannosidase, alpha, class 1C, member 1							11.0	10.0	10.0					1																	25944734		1825	3746	5571	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944734G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.446G>A	1.37:g.25944734G>A	ENSP00000363452:p.Arg149Gln					MAN1C1_ENST00000263979.3_5'UTR	p.R149Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	776	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	149					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.446G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.548846	0.45383	.	.	ENSG00000117643	ENST00000374332	D	0.82803	-1.65	4.67	1.77	0.24775	.	0.412918	0.18006	N	0.154739	T	0.63034	0.2477	N	0.12182	0.205	0.80722	D	1	B	0.16802	0.019	B	0.11329	0.006	T	0.43798	-0.9369	10	0.13853	T	0.58	.	6.7426	0.23445	0.2976:0.0:0.7024:0.0	.	149	Q9NR34	MA1C1_HUMAN	Q	149	ENSP00000363452:R149Q	ENSP00000363452:R149Q	R	+	2	0	MAN1C1	25817321	0.967000	0.33354	0.979000	0.43373	0.980000	0.70556	0.812000	0.27211	0.194000	0.20326	0.655000	0.94253	CGG		0.682	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		4	58	0	0	0	1	0	4	58				
MGAT2	4247	broad.mit.edu	37	14	50088031	50088031	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50088031C>A	ENST00000305386.2	+	1	543	c.45C>A	c.(43-45)ctC>ctA	p.L15L	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	15					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCTGACGCTCGTGGTGGCCG	0.672																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(43-45)ctC>ctA		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							19.0	22.0	21.0					14																	50088031		2196	4285	6481	SO:0001819	synonymous_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088031C>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.45C>A	14.37:g.50088031C>A						RP11-649E7.5_ENST00000555043.1_RNA	p.L15L	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	543	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		15					B3KPC5|B3KQM0	Silent	SNP	ENST00000305386.2	37	c.45C>A	CCDS9690.1																																																																																				0.672	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		47	187	1	0	4.01344e-20	1	4.48984e-20	47	187				
SLC38A8	146167	broad.mit.edu	37	16	84056480	84056480	+	Silent	SNP	G	G	A	rs146922664	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056480G>A	ENST00000299709.3	-	6	704	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	235					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGATGGAGACGGCAGCTTCGT	0.572													G|||	5	0.000998403	0.0	0.0	5008	,	,		17789	0.0		0.0	False		,,,				2504	0.0051					ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(703-705)gcC>gcT		solute carrier family 38, member 8		G		1,4399	2.1+/-5.4	0,1,2199	68.0	52.0	58.0		705	-10.6	0.0	16	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	SLC38A8	NM_001080442.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		235/436	84056480	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056480G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.705C>T	16.37:g.84056480G>A							p.A235A	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	704	-			235						Silent	SNP	ENST00000299709.3	37	c.705C>T	CCDS32495.1																																																																																				0.572	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		18	146	0	0	0	1	0	18	146				
TUBGCP2	10844	broad.mit.edu	37	10	135095846	135095846	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095846T>G	ENST00000252936.3	-	15	2329	c.2290A>C	c.(2290-2292)Aaa>Caa	p.K764Q	TUBGCP2_ENST00000368563.2_Splice_Site_p.K764Q|TUBGCP2_ENST00000368562.1_Splice_Site_p.K357Q|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634Q|TUBGCP2_ENST00000543663.1_Splice_Site_p.K792Q			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	764					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGTGTAAATTTCTAGGGGGGG	0.587																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.e16-1		tubulin, gamma complex associated protein 2							20.0	23.0	22.0					10																	135095846		2199	4299	6498	SO:0001630	splice_region_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135095846T>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2290-1A>C	10.37:g.135095846T>G						TUBGCP2_ENST00000543663.1_Splice_Site_p.K792_splice|TUBGCP2_ENST00000252936.3_Splice_Site_p.K764_splice|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634_splice|TUBGCP2_ENST00000368562.1_Splice_Site_p.K357_splice	p.K764_splice	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	16	2646	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	764					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Splice_Site	SNP	ENST00000252936.3	37	c.2289_splice	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	T	9.274	1.046430	0.19748	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.32023	2.48;2.22;2.48;1.47;2.48	4.71	2.24	0.28232	.	0.115504	0.56097	D	0.000035	T	0.16385	0.0394	N	0.22421	0.69	0.28609	N	0.908782	B;B;B	0.30542	0.284;0.049;0.138	B;B;B	0.23574	0.047;0.021;0.032	T	0.20338	-1.0278	10	0.13108	T	0.6	-21.9772	10.6963	0.45901	0.0:0.0:0.306:0.694	.	792;792;764	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	Q	764;634;764;357;792	ENSP00000252936:K764Q;ENSP00000395666:K634Q;ENSP00000357551:K764Q;ENSP00000357550:K357Q;ENSP00000446093:K792Q	ENSP00000252936:K764Q	K	-	1	0	TUBGCP2	134945836	1.000000	0.71417	0.204000	0.23530	0.281000	0.26958	2.253000	0.43205	0.353000	0.24079	0.459000	0.35465	AAA		0.587	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1		Missense_Mutation	28	138	0	0	0	1	0	28	138				
KIAA0141	9812	broad.mit.edu	37	5	141312861	141312861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141312861C>T	ENST00000432126.2	+	8	926	c.792C>T	c.(790-792)gcC>gcT	p.A264A	KIAA0141_ENST00000506775.1_3'UTR|KIAA0141_ENST00000194118.4_Silent_p.A264A	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	264					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCAGCCTTTTCTTACT	0.557																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(790-792)gcC>gcT		KIAA0141							76.0	77.0	77.0					5																	141312861		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141312861C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.792C>T	5.37:g.141312861C>T						KIAA0141_ENST00000194118.4_Silent_p.A264A|KIAA0141_ENST00000506775.1_3'UTR	p.A264A	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	926	+		all_hematologic(541;0.118)	264					Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.792C>T	CCDS4268.1																																																																																				0.557	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		68	309	0	0	0	1	0	68	309				
SSRP1	6749	broad.mit.edu	37	11	57098390	57098390	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57098390C>T	ENST00000278412.2	-	10	1501	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	snoU13_ENST00000459327.1_RNA|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	412					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACAGTTTCCCGTACTCCTC	0.493																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1234-1236)gGg>gAg		structure specific recognition protein 1							154.0	123.0	134.0					11																	57098390		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57098390C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1235G>A	11.37:g.57098390C>T	ENSP00000278412:p.Gly412Glu						p.G412E	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			10	1501	-			412					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1235G>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317282	0.60524	.	.	ENSG00000149136	ENST00000278412	T	0.41065	1.01	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.25890	0.77	0.80722	D	1	B	0.32968	0.392	B	0.37943	0.261	T	0.05022	-1.0911	10	0.07482	T	0.82	-24.3985	15.5356	0.76001	0.0:1.0:0.0:0.0	.	412	Q08945	SSRP1_HUMAN	E	412	ENSP00000278412:G412E	ENSP00000278412:G412E	G	-	2	0	SSRP1	56854966	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.029000	0.76477	2.423000	0.82170	0.555000	0.69702	GGG		0.493	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		38	226	0	0	0	1	0	38	226				
ADAMTS8	11095	broad.mit.edu	37	11	130275525	130275525	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130275525G>T	ENST00000257359.6	-	9	3304	c.2598C>A	c.(2596-2598)gcC>gcA	p.A866A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	866	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGTGGCAGAGGCCTGGCCGG	0.662																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2596-2598)gcC>gcA		ADAM metallopeptidase with thrombospondin type 1 motif, 8							52.0	60.0	57.0					11																	130275525		1978	4153	6131	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275525G>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2598C>A	11.37:g.130275525G>T							p.A866A	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3304	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	866			TSP type-1 2.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.2598C>A	CCDS41732.1																																																																																				0.662	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		111	416	1	0	1.89636e-67	1	2.40225e-67	111	416				
CUBN	8029	broad.mit.edu	37	10	16949516	16949516	+	Missense_Mutation	SNP	C	C	T	rs199864467		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16949516C>T	ENST00000377833.4	-	49	7761	c.7696G>A	c.(7696-7698)Gaa>Aaa	p.E2566K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2566					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCATCTTCACTGGAGGTA	0.458																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7696-7698)Gaa>Aaa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						79.0	67.0	71.0					10																	16949516		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16949516C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7696G>A	10.37:g.16949516C>T	ENSP00000367064:p.Glu2566Lys						p.E2566K	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			49	7761	-			2566					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7696G>A	CCDS7113.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	35	5.467395	0.96257	.	.	ENSG00000107611	ENST00000377833	T	0.77098	-1.07	5.23	5.23	0.72850	CUB (2);	0.279331	0.25540	N	0.029974	D	0.83133	0.5188	L	0.45744	1.44	0.80722	D	1	D	0.63880	0.993	P	0.59115	0.852	T	0.82910	-0.0223	10	0.46703	T	0.11	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	2566	O60494	CUBN_HUMAN	K	2566	ENSP00000367064:E2566K	ENSP00000367064:E2566K	E	-	1	0	CUBN	16989522	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.287000	0.65645	2.603000	0.88011	0.650000	0.86243	GAA		0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		51	238	0	0	0	1	0	51	238				
MLST8	64223	broad.mit.edu	37	16	2256400	2256400	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2256400T>C	ENST00000569417.1	+	3	525	c.171T>C	c.(169-171)atT>atC	p.I57I	MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000565250.1_Silent_p.I57I|MLST8_ENST00000301725.7_Silent_p.I76I|MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000397124.1_Silent_p.I57I|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000301724.10_Silent_p.I57I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	57					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GCAGCATGATTGCTGCTGCAG	0.582																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(169-171)atT>atC		MTOR associated protein, LST8 homolog (S. cerevisiae)							114.0	115.0	115.0					16																	2256400		2032	4170	6202	SO:0001819	synonymous_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256400T>C		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.171T>C	16.37:g.2256400T>C						MLST8_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000301725.7_Silent_p.I76I|MLST8_ENST00000565250.1_Silent_p.I57I|MLST8_ENST00000397124.1_Silent_p.I57I|MLST8_ENST00000301724.10_Silent_p.I57I	p.I57I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			3	525	+			57					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	37	c.171T>C	CCDS10462.2																																																																																				0.582	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		69	354	0	0	0	1	0	69	354				
CCDC114	93233	broad.mit.edu	37	19	48800516	48800516	+	Missense_Mutation	SNP	G	G	A	rs372889077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800516G>A	ENST00000315396.7	-	14	2412	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	577					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.T577M(1)|p.T370M(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCACCGTGCGTGATGTGGCT	0.622																																						ENST00000315396.7																			2	Substitution - Missense(2)	p.T577M(1)|p.T370M(1)	cervix(2)	cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1729-1731)aCg>aTg		coiled-coil domain containing 114							55.0	51.0	53.0					19																	48800516		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800516G>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1730C>T	19.37:g.48800516G>A	ENSP00000318429:p.Thr577Met						p.T577M	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2412	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	577					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1730C>T	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889042	0.17540	.	.	ENSG00000105479	ENST00000315396	T	0.32988	1.43	2.2	1.01	0.19927	.	.	.	.	.	T	0.17152	0.0412	L	0.29908	0.895	0.09310	N	1	B	0.34290	0.447	B	0.17433	0.018	T	0.12760	-1.0535	9	0.87932	D	0	-4.7199	6.1144	0.20117	0.0:0.0:0.6969:0.303	.	577	Q96M63	CC114_HUMAN	M	577	ENSP00000318429:T577M	ENSP00000318429:T577M	T	-	2	0	CCDC114	53492328	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.881000	0.28173	0.152000	0.19188	0.561000	0.74099	ACG		0.622	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		63	274	0	0	0	1	0	63	274				
KCNJ14	3770	broad.mit.edu	37	19	48965405	48965405	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965405C>A	ENST00000391884.1	+	1	900	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	142					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CCTCTTCGCGCTGGAGACGCA	0.721																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(424-426)Ctg>Atg		potassium inwardly-rectifying channel, subfamily J, member 14							8.0	8.0	8.0					19																	48965405		2164	4221	6385	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965405C>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.424C>A	19.37:g.48965405C>A	ENSP00000375756:p.Leu142Met					KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M	p.L142M			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	900	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	142						Missense_Mutation	SNP	ENST00000391884.1	37	c.424C>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723657	0.68959	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.95069	-3.6;-3.6	4.69	4.69	0.59074	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.64402	D	0.000005	D	0.94653	0.8276	L	0.52573	1.65	0.50813	D	0.999895	P	0.46952	0.887	P	0.57548	0.823	D	0.94311	0.7545	10	0.72032	D	0.01	.	9.2025	0.37268	0.0:0.9:0.0:0.1	.	142	Q9UNX9	IRK14_HUMAN	M	142	ENSP00000341479:L142M;ENSP00000375756:L142M	ENSP00000341479:L142M	L	+	1	2	KCNJ14	53657217	0.006000	0.16342	1.000000	0.80357	0.972000	0.66771	0.017000	0.13399	2.323000	0.78572	0.591000	0.81541	CTG		0.721	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		9	50	1	0	0.00829132	1	0.00834067	9	50				
PRDM15	63977	broad.mit.edu	37	21	43236126	43236126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43236126C>T	ENST00000269844.3	-	26	3535	c.3425G>A	c.(3424-3426)tGc>tAc	p.C1142Y	PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.C833Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCACTCCTTGCACTCGTACTC	0.642																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2497-2499)tGc>tAc		PR domain containing 15							181.0	124.0	144.0					21																	43236126		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43236126C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3425G>A	21.37:g.43236126C>T	ENSP00000269844:p.Cys1142Tyr					PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.C1142Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y	p.C833Y			P57071	PRD15_HUMAN			20	2599	-			1142					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2498G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.636198	0.87760	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95993	0.8695	H	0.99404	4.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.985	D	0.98285	1.0510	9	0.87932	D	0	-24.7482	16.2106	0.82151	0.0:1.0:0.0:0.0	.	1142;833;813	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	833;813;796;776;1142	ENSP00000408592:C833Y;ENSP00000381556:C813Y;ENSP00000444044:C796Y;ENSP00000390245:C776Y;ENSP00000269844:C1142Y	ENSP00000269844:C1142Y	C	-	2	0	PRDM15	42109195	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.413000	0.80104	2.048000	0.60808	0.645000	0.84053	TGC		0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		42	360	0	0	0	1	0	42	360				
ALDH1L1	10840	broad.mit.edu	37	3	125854451	125854451	+	Missense_Mutation	SNP	C	C	T	rs369044554		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125854451C>T	ENST00000393434.2	-	12	1748	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	467	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGGCTGCGGCCACTGCC	0.602																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1399-1401)Gca>Aca		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						141.0	110.0	121.0					3																	125854451		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125854451C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1399G>A	3.37:g.125854451C>T	ENSP00000377083:p.Ala467Thr					ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T	p.A467T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	12	1748	-			467			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1399G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882415	0.33255	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.16	3.29	0.37713	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.200686	0.40640	N	0.001053	D	0.82903	0.5138	M	0.88031	2.925	0.80722	D	1	P;P;B	0.52577	0.954;0.592;0.363	B;B;B	0.44085	0.44;0.244;0.1	D	0.84958	0.0875	10	0.72032	D	0.01	.	10.254	0.43385	0.0:0.9007:0.0:0.0993	.	366;519;467	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	T	477;467;366;467;467	ENSP00000273450:A477T;ENSP00000420293:A467T;ENSP00000395881:A366T;ENSP00000377083:A467T;ENSP00000377081:A467T	ENSP00000273450:A477T	A	-	1	0	ALDH1L1	127337141	0.998000	0.40836	0.351000	0.25721	0.004000	0.04260	3.988000	0.56951	1.125000	0.41998	-0.368000	0.07277	GCA		0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		9	301	0	0	0	1	0	9	301				
ZNF532	55205	broad.mit.edu	37	18	56585789	56585789	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56585789T>C	ENST00000336078.4	+	4	1046	c.270T>C	c.(268-270)caT>caC	p.H90H	ZNF532_ENST00000589288.1_Silent_p.H90H|ZNF532_ENST00000591230.1_Silent_p.H90H|ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000591083.1_Silent_p.H90H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGGCTTACATAATGGGTTTC	0.502																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(268-270)caT>caC		zinc finger protein 532							90.0	75.0	80.0					18																	56585789		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585789T>C	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.270T>C	18.37:g.56585789T>C						ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000589288.1_Silent_p.H90H|ZNF532_ENST00000591083.1_Silent_p.H90H|ZNF532_ENST00000591230.1_Silent_p.H90H	p.H90H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1046	+			90					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.270T>C	CCDS11969.1																																																																																				0.502	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		41	188	0	0	0	1	0	41	188				
KDELC1	79070	broad.mit.edu	37	13	103441551	103441551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103441551G>A	ENST00000376004.4	-	7	1440	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	368						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGTGCCATCGATATTTATTT	0.393																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1102-1104)atC>atT		KDEL (Lys-Asp-Glu-Leu) containing 1							89.0	87.0	87.0					13																	103441551		2203	4300	6503	SO:0001819	synonymous_variant	79070					endoplasmic reticulum lumen		g.chr13:103441551G>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1104C>T	13.37:g.103441551G>A						KDELC1_ENST00000460338.1_5'UTR	p.I368I	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			7	1440	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		368					Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	c.1104C>T	CCDS9504.1																																																																																				0.393	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			49	259	0	0	0	1	0	49	259				
MKI67	4288	broad.mit.edu	37	10	129905528	129905528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905528C>T	ENST00000368654.3	-	13	4951	c.4576G>A	c.(4576-4578)Gca>Aca	p.A1526T	MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1526	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTGAGTGCGAAGAATTCT	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4576-4578)Gca>Aca		marker of proliferation Ki-67							337.0	301.0	313.0					10																	129905528		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905528C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4576G>A	10.37:g.129905528C>T	ENSP00000357643:p.Ala1526Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	p.A1526T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4951	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1526			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4576G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303393	0.23736	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02837	4.14;4.14	3.61	1.68	0.24146	.	1.738000	0.03536	N	0.223115	T	0.02649	0.0080	L	0.43152	1.355	0.09310	N	1	P;P;P	0.44478	0.614;0.803;0.836	B;B;B	0.32805	0.099;0.127;0.153	T	0.47699	-0.9097	10	0.12103	T	0.63	.	6.1017	0.20051	0.0:0.755:0.0:0.245	.	1525;1166;1526	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1526;1166;1525	ENSP00000357643:A1526T;ENSP00000357642:A1166T	ENSP00000357642:A1166T	A	-	1	0	MKI67	129795518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.129000	0.10515	0.322000	0.23283	0.462000	0.41574	GCA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		279	1329	0	0	0	1	0	279	1329				
NCDN	23154	broad.mit.edu	37	1	36029470	36029470	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36029470C>T	ENST00000373243.2	+	6	2096	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	NCDN_ENST00000356090.4_Silent_p.T571T|NCDN_ENST00000373253.3_Silent_p.T554T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	571					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGTGGCCACCCTGGGGCTCC	0.582																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1711-1713)acC>acT		neurochondrin							69.0	66.0	67.0					1																	36029470		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36029470C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1713C>T	1.37:g.36029470C>T						NCDN_ENST00000356090.4_Silent_p.T571T|NCDN_ENST00000373253.3_Silent_p.T554T	p.T571T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			6	2096	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	571					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1713C>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838179	0.16891	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.55	1.49	0.22878	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26677	-1.0096	4	.	.	.	.	4.447	0.11602	0.148:0.4988:0.0:0.3531	.	.	.	.	L	165	.	.	P	+	2	0	NCDN	35802057	0.701000	0.27806	1.000000	0.80357	0.977000	0.68977	-0.339000	0.07832	0.336000	0.23639	0.462000	0.41574	CCC		0.582	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		30	294	0	0	0	1	0	30	294				
ATM	472	broad.mit.edu	37	11	108214019	108214019	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108214019T>G	ENST00000452508.2	+	58	8528	c.8339T>G	c.(8338-8340)cTt>cGt	p.L2780R	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2780R|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2780	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGTGAATTTCTTGTTAACAAT	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8338-8340)cTt>cGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							151.0	137.0	142.0					11																	108214019		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108214019T>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8339T>G	11.37:g.108214019T>G	ENSP00000388058:p.Leu2780Arg	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2780R|C11orf65_ENST00000525729.1_Intron	p.L2780R	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	57	8724	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2780			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8339T>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854269	0.91355	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82167	-1.58;-1.58	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	15.9974	0.80262	0.0:0.0:0.0:1.0	.	2780	Q13315	ATM_HUMAN	R	2780	ENSP00000278616:L2780R;ENSP00000388058:L2780R	ENSP00000278616:L2780R	L	+	2	0	ATM	107719229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.720000	0.84759	2.242000	0.73789	0.459000	0.35465	CTT		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		134	603	0	0	0	1	0	134	603				
MYO15A	51168	broad.mit.edu	37	17	18054176	18054176	+	Silent	SNP	G	G	A	rs374624571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054176G>A	ENST00000205890.5	+	38	7760	c.7422G>A	c.(7420-7422)acG>acA	p.T2474T	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2474	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGGCCACGGCACTCCAGC	0.672																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7420-7422)acG>acA		myosin XVA		G		0,4072		0,0,2036	20.0	26.0	24.0		7422	4.0	1.0	17		24	1,8353		0,1,4176	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6212	AA,AG,GG		0.012,0.0,0.0080		2474/3531	18054176	1,12425	2036	4177	6213	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18054176G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7422G>A	17.37:g.18054176G>A							p.T2474T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			38	7760	+	all_neural(463;0.228)		2474			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.7422G>A	CCDS42271.1																																																																																				0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	57	0	0	0	1	0	7	57				
DOCK6	57572	broad.mit.edu	37	19	11361633	11361633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11361633C>A	ENST00000294618.7	-	6	648	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	213					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCACATCTTCTGGGGCCGCC	0.652																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(637-639)Gaa>Taa		dedicator of cytokinesis 6							32.0	37.0	35.0					19																	11361633		1925	4115	6040	SO:0001587	stop_gained	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11361633C>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.637G>T	19.37:g.11361633C>A	ENSP00000294618:p.Glu213*						p.E213*	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			6	648	-			213					A6H8X5|Q7Z7P4|Q9P2F2	Nonsense_Mutation	SNP	ENST00000294618.7	37	c.637G>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635450	0.87760	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	.	0.114392	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.955	16.7706	0.85536	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000294618:E213X	E	-	1	0	DOCK6	11222633	1.000000	0.71417	0.443000	0.26883	0.074000	0.17049	7.185000	0.77714	2.250000	0.74265	0.462000	0.41574	GAA		0.652	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		37	192	1	0	2.75727e-19	1	3.0731e-19	37	192				
MYLK	4638	broad.mit.edu	37	3	123337592	123337592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123337592C>T	ENST00000475616.1	-	30	5393	c.5394G>A	c.(5392-5394)gaG>gaA	p.E1798E	MYLK_ENST00000360304.3_Silent_p.E1798E|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK_ENST00000418370.2_Silent_p.E38E|MYLK_ENST00000578202.1_Silent_p.E37E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK_ENST00000359169.1_Silent_p.E1747E|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Silent_p.E598E|MYLK_ENST00000360772.3_Silent_p.E1747E			Q15746	MYLK_HUMAN	myosin light chain kinase	1798					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCAACAGCCTCAAGGAAAG	0.443																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5239-5241)gaG>gaA		myosin light chain kinase							106.0	106.0	106.0					3																	123337592		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123337592C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5394G>A	3.37:g.123337592C>T						MYLK_ENST00000418370.2_Silent_p.E38E|MYLK_ENST00000354792.5_Silent_p.E598E|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK_ENST00000578202.1_Silent_p.E37E|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Silent_p.E1747E|MYLK_ENST00000360304.3_Silent_p.E1798E|MYLK_ENST00000475616.1_Silent_p.E1798E	p.E1747E			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	33	5619	-		Lung NSC(201;0.0496)	1798			Calmodulin-binding.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.5241G>A	CCDS46896.1																																																																																				0.443	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		75	346	0	0	0	1	0	75	346				
RCC1	1104	broad.mit.edu	37	1	28863294	28863294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28863294C>T	ENST00000373833.6	+	12	1258	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	RCC1_ENST00000373831.3_Missense_Mutation_p.R356W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	325					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTATGGGCGGCTGGGCCT	0.612																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(973-975)Cgg>Tgg		regulator of chromosome condensation 1							97.0	98.0	97.0					1																	28863294		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28863294C>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.973C>T	1.37:g.28863294C>T	ENSP00000362939:p.Arg325Trp					RCC1_ENST00000373831.3_Missense_Mutation_p.R356W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W	p.R325W			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	12	1258	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	325					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.973C>T	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532939	0.85812	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.8	4.88	0.63580	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95339	0.8436	10	0.87932	D	0	-19.6537	12.7877	0.57516	0.2978:0.7022:0.0:0.0	.	356;342;325	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	W	325;325;325;356;342	ENSP00000381931:R325W;ENSP00000362939:R325W;ENSP00000362938:R325W;ENSP00000362937:R356W;ENSP00000413644:R342W	ENSP00000362937:R356W	R	+	1	2	RCC1	28735881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.097000	0.50251	1.423000	0.47198	0.655000	0.94253	CGG		0.612	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		132	543	0	0	0	1	0	132	543				
SERINC2	347735	broad.mit.edu	37	1	31905859	31905859	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31905859C>T	ENST00000373709.3	+	9	1209	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000536859.1_Silent_p.T357T|SERINC2_ENST00000373710.1_Silent_p.T362T	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	353					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATGCAGACCGAGGAGTGCC	0.612																																						ENST00000373710.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(1084-1086)acC>acT		serine incorporator 2							40.0	35.0	37.0					1																	31905859		2202	4300	6502	SO:0001819	synonymous_variant	347735					integral to membrane		g.chr1:31905859C>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1059C>T	1.37:g.31905859C>T						SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.T357T|SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000373709.3_Silent_p.T353T	p.T362T	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	10	1359	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	353					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	37	c.1086C>T	CCDS30662.1																																																																																				0.612	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		13	119	0	0	0	1	0	13	119				
GUCA1A	2978	broad.mit.edu	37	6	42146144	42146144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42146144G>A	ENST00000394237.1	+	4	1304	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N|GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	110	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATTGACCGCGATGAGCTGCT	0.617																																						ENST00000394237.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7						c.(328-330)Gat>Aat		guanylate cyclase activator 1A (retina)							105.0	98.0	100.0					6																	42146144		2203	4300	6503	SO:0001583	missense	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42146144G>A		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.328G>A	6.37:g.42146144G>A	ENSP00000377784:p.Asp110Asn					GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N|GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N	p.D110N			P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	1304	+	Colorectal(47;0.196)		110			EF-hand 3.		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	c.328G>A	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	g	1.312	-0.601822	0.03744	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.57	3.7	0.42460	EF-hand-like domain (1);	0.422650	0.26840	N	0.022228	T	0.74650	0.3744	L	0.56124	1.755	0.09310	N	1	P	0.38048	0.616	B	0.30716	0.119	T	0.65747	-0.6093	9	.	.	.	.	12.8576	0.57894	0.0:0.1656:0.8344:0.0	.	110	P43080	GUC1A_HUMAN	N	110;106;110;110;110	ENSP00000437476:D110N;ENSP00000053469:D110N;ENSP00000377784:D110N;ENSP00000362049:D110N	.	D	+	1	0	GUCA1A	42254122	0.045000	0.20229	0.225000	0.23894	0.005000	0.04900	1.711000	0.37930	1.055000	0.40461	-0.121000	0.15023	GAT		0.617	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			128	574	0	0	0	1	0	128	574				
CAMK1	8536	broad.mit.edu	37	3	9804668	9804668	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9804668C>T	ENST00000256460.3	-	5	536	c.359G>A	c.(358-360)cGc>cAc	p.R120H	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GAAGATGAGGCGGCTGGCGTC	0.587																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(358-360)cGc>cAc		calcium/calmodulin-dependent protein kinase I							66.0	59.0	62.0					3																	9804668		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804668C>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.359G>A	3.37:g.9804668C>T	ENSP00000256460:p.Arg120His					OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron	p.R120H	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	5	536	-	Medulloblastoma(99;0.227)		120			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.359G>A	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547768	0.27652	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.66099	-0.19;-0.19	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.265901	0.38005	N	0.001846	T	0.32675	0.0837	N	0.03930	-0.32	0.35639	D	0.810819	B	0.02656	0.0	B	0.09377	0.004	T	0.37197	-0.9716	10	0.20519	T	0.43	-19.8959	5.8675	0.18783	0.0:0.6541:0.1806:0.1653	.	120	Q14012	KCC1A_HUMAN	H	120;76	ENSP00000256460:R120H;ENSP00000404587:R76H	ENSP00000256460:R120H	R	-	2	0	CAMK1	9779668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.345000	0.52182	2.357000	0.79964	0.462000	0.41574	CGC		0.587	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		7	230	0	0	0	1	0	7	230				
PNPLA6	10908	broad.mit.edu	37	19	7615445	7615445	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7615445G>A	ENST00000221249.6	+	19	2303	c.1872G>A	c.(1870-1872)ggG>ggA	p.G624G	PNPLA6_ENST00000414982.3_Silent_p.G672G|PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	663					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTCAATGGGCGGCTGCGTA	0.687																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1870-1872)ggG>ggA		patatin-like phospholipase domain containing 6							54.0	44.0	47.0					19																	7615445		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7615445G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1872G>A	19.37:g.7615445G>A						PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000414982.3_Silent_p.G672G	p.G624G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			19	2303	+			663					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.1872G>A	CCDS32891.1																																																																																				0.687	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		34	124	0	0	0	1	0	34	124				
FAF2	23197	broad.mit.edu	37	5	175913437	175913437	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175913437A>G	ENST00000261942.6	+	3	267	c.214A>G	c.(214-216)Aat>Gat	p.N72D	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	72					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCTGCAGGTTAATACAGCTGA	0.458																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(214-216)Aat>Gat		Fas associated factor family member 2							142.0	119.0	127.0					5																	175913437		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913437A>G	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.214A>G	5.37:g.175913437A>G	ENSP00000261942:p.Asn72Asp					FAF2_ENST00000510446.1_3'UTR	p.N72D	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			3	267	+			72					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.214A>G	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489276	0.64074	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	N	0.11870	0.19	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28459	-1.0043	8	.	.	.	-19.0218	16.6127	0.84892	1.0:0.0:0.0:0.0	.	72	Q96CS3	FAF2_HUMAN	D	72	.	.	N	+	1	0	FAF2	175846043	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.809000	0.91944	2.322000	0.78497	0.528000	0.53228	AAT		0.458	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		69	377	0	0	0	1	0	69	377				
MAML1	9794	broad.mit.edu	37	5	179201461	179201461	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201461C>T	ENST00000292599.3	+	5	2897	c.2634C>T	c.(2632-2634)agC>agT	p.S878S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAATGTCTAGCCCGCAATTCT	0.612																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2632-2634)agC>agT		mastermind-like 1 (Drosophila)							34.0	37.0	36.0					5																	179201461		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201461C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2634C>T	5.37:g.179201461C>T						MAML1_ENST00000503050.1_Intron	p.S878S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2897	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	878						Silent	SNP	ENST00000292599.3	37	c.2634C>T	CCDS34315.1																																																																																				0.612	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		79	216	0	0	0	1	0	79	216				
CETN2	1069	broad.mit.edu	37	X	151996394	151996394	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151996394G>A	ENST00000370277.3	-	5	576	c.510C>T	c.(508-510)agC>agT	p.S170S	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	170	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAATAGAGGCTGGTCTTTT	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000370277.3																			0				breast(1)|lung(4)|prostate(1)|skin(1)	7						c.(508-510)agC>agT	Direct reversal of damage;Nucleotide excision repair (NER)	centrin, EF-hand protein, 2							168.0	146.0	154.0					X																	151996394		2203	4300	6503	SO:0001819	synonymous_variant	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151996394G>A	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.510C>T	X.37:g.151996394G>A						CETN2_ENST00000493482.1_5'UTR	p.S170S	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN			5	576	-	Acute lymphoblastic leukemia(192;6.56e-05)		170			EF-hand 4.		B2R4T4|Q53XW1	Silent	SNP	ENST00000370277.3	37	c.510C>T	CCDS14716.1																																																																																				0.408	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	NM_004344		70	508	0	0	0	1	0	70	508				
SIMC1	375484	broad.mit.edu	37	5	175772213	175772213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175772213G>A	ENST00000443967.1	+	12	2791	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	SIMC1_ENST00000341199.6_Missense_Mutation_p.R380Q|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'Flank|SIMC1_ENST00000332772.4_Missense_Mutation_p.R256Q|SIMC1_ENST00000430704.2_Missense_Mutation_p.R380Q			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	795							SUMO polymer binding (GO:0032184)										GTGATCGACCGAAAGGACTTA	0.438																																						ENST00000443967.1																			0											c.(2383-2385)cGa>cAa		SUMO-interacting motifs containing 1							107.0	106.0	106.0					5																	175772213		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175772213G>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2384G>A	5.37:g.175772213G>A	ENSP00000406571:p.Arg795Gln					SIMC1_ENST00000430704.2_Missense_Mutation_p.R380Q|SIMC1_ENST00000341199.6_Missense_Mutation_p.R380Q|SIMC1_ENST00000332772.4_Missense_Mutation_p.R256Q	p.R795Q							12	2791	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.2384G>A		.	.	.	.	.	.	.	.	.	.	G	18.56	3.650695	0.67472	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.39406	1.53;1.53;1.74;1.08	5.09	5.09	0.68999	.	0.185090	0.36234	N	0.002701	T	0.60663	0.2286	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.81914	0.986;0.995;0.99	T	0.62388	-0.6865	10	0.72032	D	0.01	-16.2843	16.8521	0.85996	0.0:0.0:1.0:0.0	.	256;380;795	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	Q	380;380;795;256	ENSP00000342075:R380Q;ENSP00000409287:R380Q;ENSP00000406571:R795Q;ENSP00000331311:R256Q	ENSP00000331311:R256Q	R	+	2	0	C5orf25	175704819	0.954000	0.32549	0.542000	0.28115	0.483000	0.33249	5.806000	0.69150	2.646000	0.89796	0.557000	0.71058	CGA		0.438	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		187	468	0	0	0	1	0	187	468				
CCDC186	55088	broad.mit.edu	37	10	115887367	115887367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115887367G>A	ENST00000369287.3	-	14	2512	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V|C10orf118_ENST00000497592.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		749										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GTTATCCACAGCTACTGAGGA	0.403																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(2245-2247)gCt>gTt		chromosome 10 open reading frame 118							126.0	114.0	118.0					10																	115887367		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115887367G>A																												ENST00000369287.3:c.2246C>T	10.37:g.115887367G>A	ENSP00000358293:p.Ala749Val					C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V	p.A749V	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	14	2512	-		Colorectal(252;0.172)|Breast(234;0.188)	749					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.2246C>T	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047970	0.36085	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T	0.24908	1.83	4.89	3.98	0.46160	.	0.247634	0.40640	N	0.001059	T	0.13072	0.0317	N	0.10874	0.06	0.36466	D	0.866974	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.13361	-1.0512	10	0.26408	T	0.33	.	10.9391	0.47262	0.087:0.0:0.913:0.0	.	347;749	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	V	749;347;855	ENSP00000358293:A749V	ENSP00000358293:A749V	A	-	2	0	C10orf118	115877357	1.000000	0.71417	0.934000	0.37439	0.996000	0.88848	6.082000	0.71318	2.251000	0.74343	0.549000	0.68633	GCT		0.403	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			40	260	0	0	0	1	0	40	260				
MUC6	4588	broad.mit.edu	37	11	1025023	1025023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1025023G>A	ENST00000421673.2	-	24	3096	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1016	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACCTGCTGCGCGTCTCGAAG	0.642																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3046-3048)Cgc>Tgc		mucin 6, oligomeric mucus/gel-forming							48.0	54.0	52.0					11																	1025023		2127	4221	6348	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025023G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3046C>T	11.37:g.1025023G>A	ENSP00000406861:p.Arg1016Cys						p.R1016C	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3096	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1016			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3046C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717778	0.30413	.	.	ENSG00000184956	ENST00000421673	T	0.60797	0.16	3.78	3.78	0.43462	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.80014	0.4546	M	0.90309	3.105	0.48830	D	0.999711	D	0.89917	1.0	D	0.87578	0.998	D	0.85651	0.1282	9	0.87932	D	0	.	16.1883	0.81967	0.0:0.0:1.0:0.0	.	1016	Q6W4X9	MUC6_HUMAN	C	1016	ENSP00000406861:R1016C	ENSP00000406861:R1016C	R	-	1	0	MUC6	1015023	0.994000	0.37717	0.080000	0.20451	0.096000	0.18686	2.318000	0.43779	2.124000	0.65301	0.561000	0.74099	CGC		0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		26	176	0	0	0	1	0	26	176				
SCN10A	6336	broad.mit.edu	37	3	38781010	38781010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781010C>T	ENST00000449082.2	-	14	2275	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	759					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CATTACCAAGCGGAAGCTCCG	0.547																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2275-2277)cGc>cAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						51.0	48.0	49.0					3																	38781010		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781010C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2276G>A	3.37:g.38781010C>T	ENSP00000390600:p.Arg759His						p.R759H	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2275	-			759					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2276G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016405	0.93404	.	.	ENSG00000185313	ENST00000449082	D	0.98822	-5.16	4.19	4.19	0.49359	Ion transport (1);	0.116150	0.53938	D	0.000044	D	0.99551	0.9839	H	0.99273	4.495	0.49798	D	0.999823	D	0.89917	1.0	D	0.91635	0.999	D	0.97485	1.0050	10	0.87932	D	0	.	16.7073	0.85375	0.0:1.0:0.0:0.0	.	759	Q9Y5Y9	SCNAA_HUMAN	H	759	ENSP00000390600:R759H	ENSP00000390600:R759H	R	-	2	0	SCN10A	38756014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.823000	0.69272	2.174000	0.68829	0.655000	0.94253	CGC		0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		43	205	0	0	0	1	0	43	205				
KDM4D	55693	broad.mit.edu	37	11	94731922	94731922	+	Silent	SNP	T	T	G	rs369415035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731922T>G	ENST00000335080.5	+	3	2218	c.1386T>G	c.(1384-1386)gcT>gcG	p.A462A	KDM4D_ENST00000536741.1_Silent_p.A462A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	462					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACTGAGAGCTCAGGAGCTGA	0.607																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1384-1386)gcT>gcG		lysine (K)-specific demethylase 4D							44.0	48.0	46.0					11																	94731922		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731922T>G	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1386T>G	11.37:g.94731922T>G						KDM4D_ENST00000536741.1_Silent_p.A462A	p.A462A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	2218	+			462					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.1386T>G	CCDS8302.1																																																																																				0.607	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		87	315	0	0	0	1	0	87	315				
LILRB5	10990	broad.mit.edu	37	19	54754990	54754990	+	Intron	SNP	C	C	G	rs686334	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54754990C>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.E549Q|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTTTCACCTCGGCATACGTC	0.582													.|||	1559	0.311302	0.1793	0.353	5008	,	,		10666	0.5337		0.2644	False		,,,				2504	0.2791					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1645-1647)Gag>Cag		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754990C>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-194G>C	19.37:g.54754990C>G						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	p.E549Q			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1722	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		556					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1645G>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.540057	0.00143	.	.	ENSG00000105609	ENST00000450632	T	0.00417	7.5	2.08	-0.201	0.13212	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.21930	-1.0231	7	0.02654	T	1	.	4.4782	0.11753	0.0:0.2526:0.4908:0.2567	rs686334;rs2991755	549	C9JMK7	.	Q	549	ENSP00000414225:E549Q	ENSP00000414225:E549Q	E	-	1	0	LILRB5	59446802	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.163000	0.16520	0.034000	0.15491	-1.952000	0.00485	GAG		0.582	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	153	0	0	0	1	0	5	153				
FKBP6	8468	broad.mit.edu	37	7	72754785	72754785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72754785C>A	ENST00000252037.4	+	6	803	c.734C>A	c.(733-735)gCt>gAt	p.A245D	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D|FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	245					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGAGAGCAGGCTTTGATCATT	0.522																																						ENST00000252037.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(733-735)gCt>gAt		FK506 binding protein 6, 36kDa							76.0	77.0	77.0					7																	72754785		1946	4147	6093	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754785C>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.734C>A	7.37:g.72754785C>A	ENSP00000252037:p.Ala245Asp					FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D	p.A245D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			6	803	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	245					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.734C>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204249	0.79127	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.987;0.996	D	0.92672	0.6151	10	0.87932	D	0	-9.8292	15.2625	0.73634	0.0:1.0:0.0:0.0	.	240;245;215	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	D	240;200;215;245	ENSP00000416277:A240D;ENSP00000402360:A200D;ENSP00000394952:A215D;ENSP00000252037:A245D	ENSP00000252037:A245D	A	+	2	0	FKBP6	72392721	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.971000	0.70440	2.284000	0.76573	0.563000	0.77884	GCT		0.522	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		28	274	1	0	1.75199e-13	1	1.89187e-13	28	274				
CYP4F2	8529	broad.mit.edu	37	19	15990671	15990671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990671G>T	ENST00000221700.6	-	10	1247	c.1152C>A	c.(1150-1152)tgC>tgA	p.C384*		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTCCTTCATGCACATGGTCA	0.587																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1150-1152)tgC>tgA		cytochrome P450, family 4, subfamily F, polypeptide 2							99.0	103.0	102.0					19																	15990671		2203	4300	6503	SO:0001587	stop_gained	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990671G>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1152C>A	19.37:g.15990671G>T	ENSP00000221700:p.Cys384*					CYP4F2_ENST00000592328.1_Nonsense_Mutation_p.C384*	p.C384*	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			10	1247	-			384						Nonsense_Mutation	SNP	ENST00000221700.6	37	c.1152C>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	17.83	3.486683	0.63962	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	.	.	.	2.78	0.58	0.17402	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.332	0.21274	0.2863:0.0:0.7137:0.0	.	.	.	.	X	384;235	.	ENSP00000221700:C384X	C	-	3	2	CYP4F2	15851671	1.000000	0.71417	0.985000	0.45067	0.434000	0.31775	3.838000	0.55828	0.469000	0.27268	0.491000	0.48974	TGC		0.587	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		26	749	1	0	2.4375e-19	1	2.7179e-19	26	749				
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	rs151009293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	995					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17038	0.0		0.0	False		,,,				2504	0.0					ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2983-2985)Cgg>Tgg		leucine-rich repeats and immunoglobulin-like domains 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	47.0	50.0		2983	5.9	0.4	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	995/1066	113666508	1,13005	2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113666508C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2983C>T	1.37:g.113666508C>T	ENSP00000355396:p.Arg995Trp					LRIG2_ENST00000492207.1_3'UTR	p.R995W	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	18	3181	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	995					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2983C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204530	0.22205	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.66099	-0.19	5.9	5.9	0.94986	.	0.411554	0.20917	N	0.083346	T	0.45617	0.1351	L	0.56769	1.78	0.31206	N	0.699241	D	0.56968	0.978	B	0.36504	0.226	T	0.59359	-0.7469	10	0.66056	D	0.02	.	17.1936	0.86887	0.0:0.8743:0.1257:0.0	.	995	O94898	LRIG2_HUMAN	W	995	ENSP00000355396:R995W	ENSP00000355396:R995W	R	+	1	2	LRIG2	113468031	0.996000	0.38824	0.385000	0.26158	0.017000	0.09413	1.389000	0.34453	2.798000	0.96311	0.650000	0.86243	CGG		0.418	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		30	107	0	0	0	1	0	30	107				
GFM2	84340	broad.mit.edu	37	5	74026139	74026139	+	Missense_Mutation	SNP	C	C	T	rs146794329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74026139C>T	ENST00000296805.3	-	17	2129	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R|GFM2_ENST00000345239.2_Missense_Mutation_p.G511R	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.G558W(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TGGAGAGGCCCGAGATAGGTC	0.433																																						ENST00000296805.3																			1	Substitution - Missense(1)	p.G558W(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(1672-1674)Ggg>Agg		G elongation factor, mitochondrial 2		C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	113.0	107.0	109.0		1672,1531	5.6	1.0	5	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	GFM2	NM_032380.3,NM_170691.1	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	558/780,511/733	74026139	1,13005	2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74026139C>T	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1672G>A	5.37:g.74026139C>T	ENSP00000296805:p.Gly558Arg					GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R|GFM2_ENST00000345239.2_Missense_Mutation_p.G511R	p.G558R	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	17	2129	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	558						Missense_Mutation	SNP	ENST00000296805.3	37	c.1672G>A	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842168	0.91197	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.74209	-0.82;-0.82;-0.82	5.64	5.64	0.86602	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.85779	0.1360	10	0.87932	D	0	-13.6338	19.7116	0.96098	0.0:1.0:0.0:0.0	.	558;511;558	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	R	558;511;558	ENSP00000296805:G558R;ENSP00000296804:G511R;ENSP00000427004:G558R	ENSP00000296805:G558R	G	-	1	0	GFM2	74061895	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	7.595000	0.82710	2.673000	0.90976	0.555000	0.69702	GGG		0.433	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		64	239	0	0	0	1	0	64	239				
DMGDH	29958	broad.mit.edu	37	5	78328588	78328588	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78328588G>A	ENST00000255189.3	-	9	1467	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F|DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	480					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GGAACACTTAGACTCCAGCCT	0.507																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1438-1440)tCt>tTt		dimethylglycine dehydrogenase							128.0	131.0	130.0					5																	78328588		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78328588G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1439C>T	5.37:g.78328588G>A	ENSP00000255189:p.Ser480Phe					DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F|DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F	p.S480F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	9	1467	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	480					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1439C>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828160	0.50845	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.27	5.27	0.74061	.	0.351137	0.32836	N	0.005583	T	0.79082	0.4386	N	0.24115	0.695	0.29117	N	0.88048	P;P;P;P	0.48089	0.833;0.905;0.739;0.621	B;P;B;B	0.46110	0.252;0.504;0.382;0.212	T	0.77286	-0.2644	10	0.56958	D	0.05	.	18.9135	0.92494	0.0:0.0:1.0:0.0	.	100;279;330;480	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	F	480;319;279;100;330	ENSP00000255189:S480F;ENSP00000430972:S319F;ENSP00000369667:S279F;ENSP00000439478:S100F	ENSP00000255189:S480F	S	-	2	0	DMGDH	78364344	0.992000	0.36948	0.669000	0.29828	0.682000	0.39822	4.265000	0.58865	2.465000	0.83290	0.655000	0.94253	TCT		0.507	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		196	743	0	0	0	1	0	196	743				
C2orf71	388939	broad.mit.edu	37	2	29293566	29293566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29293566G>T	ENST00000331664.5	-	1	3561	c.3562C>A	c.(3562-3564)Cct>Act	p.P1188T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1188					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGAGGAAAGGCAGAGGGTTG	0.632																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(3562-3564)Cct>Act		chromosome 2 open reading frame 71							44.0	50.0	48.0					2																	29293566		2109	4217	6326	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29293566G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3562C>A	2.37:g.29293566G>T	ENSP00000332809:p.Pro1188Thr						p.P1188T	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	3561	-			1188						Missense_Mutation	SNP	ENST00000331664.5	37	c.3562C>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631712	0.87660	.	.	ENSG00000179270	ENST00000331664	T	0.36340	1.26	5.52	5.52	0.82312	.	0.071002	0.56097	D	0.000028	T	0.61502	0.2352	M	0.65498	2.005	0.46609	D	0.999124	D	0.89917	1.0	D	0.91635	0.999	T	0.63598	-0.6601	10	0.87932	D	0	-12.6592	19.4741	0.94979	0.0:0.0:1.0:0.0	.	1188	A6NGG8	CB071_HUMAN	T	1188	ENSP00000332809:P1188T	ENSP00000332809:P1188T	P	-	1	0	C2orf71	29147070	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.587000	0.82613	2.595000	0.87683	0.655000	0.94253	CCT		0.632	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		58	306	1	0	2.48254e-18	1	2.75398e-18	58	306				
RBM28	55131	broad.mit.edu	37	7	127978382	127978382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127978382C>T	ENST00000223073.2	-	5	577	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	155	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAACCAAAACCGCGCATCTTC	0.418																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(463-465)Ggt>Agt		RNA binding motif protein 28							100.0	93.0	96.0					7																	127978382		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127978382C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.463G>A	7.37:g.127978382C>T	ENSP00000223073:p.Gly155Ser					RBM28_ENST00000415472.2_Intron	p.G155S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			5	577	-			155			RRM 2.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.463G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284381	0.95517	.	.	ENSG00000106344	ENST00000223073;ENST00000459726	D;T	0.83419	-1.72;1.69	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94420	0.7640	10	0.87932	D	0	-14.3256	17.3973	0.87449	0.0:1.0:0.0:0.0	.	155	Q9NW13	RBM28_HUMAN	S	155;189	ENSP00000223073:G155S;ENSP00000420503:G189S	ENSP00000223073:G155S	G	-	1	0	RBM28	127765618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.401000	0.73256	2.712000	0.92718	0.650000	0.86243	GGT		0.418	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		36	225	0	0	0	1	0	36	225				
CCKBR	887	broad.mit.edu	37	11	6291375	6291375	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291375G>T	ENST00000334619.2	+	3	654	c.461G>T	c.(460-462)aGc>aTc	p.S154I	CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I|CCKBR_ENST00000525462.1_Missense_Mutation_p.S154I|CCKBR_ENST00000525014.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	154					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCGGTACAGCGCCATCTGC	0.602																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(460-462)aGc>aTc		cholecystokinin B receptor	Pentagastrin(DB00183)						53.0	47.0	49.0					11																	6291375		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291375G>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.461G>T	11.37:g.6291375G>T	ENSP00000335544:p.Ser154Ile					CCKBR_ENST00000334619.2_Missense_Mutation_p.S154I|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I	p.S154I			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	464	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	139					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.461G>T	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489164	0.84962	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.33654	2.27;1.4;2.27	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	N	0.20328	0.56	0.58432	D	0.999995	P;D;D	0.61697	0.944;0.99;0.983	P;D;D	0.67900	0.792;0.923;0.954	T	0.28396	-1.0045	10	0.32370	T	0.25	.	16.5922	0.84769	0.0:0.0:1.0:0.0	.	154;88;154	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	I	154;70;154	ENSP00000335544:S154I;ENSP00000432079:S70I;ENSP00000435534:S154I	ENSP00000335544:S154I	S	+	2	0	CCKBR	6247951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.505000	0.84491	0.655000	0.94253	AGC		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		62	267	1	0	1.22119e-34	1	1.45331e-34	62	267				
ZNF335	63925	broad.mit.edu	37	20	44582471	44582471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44582471G>A	ENST00000322927.2	-	18	2659	c.2559C>T	c.(2557-2559)ggC>ggT	p.G853G	ZNF335_ENST00000426788.1_Silent_p.G698G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	853					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCACCGCCCCCTGGCT	0.642																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2557-2559)ggC>ggT		zinc finger protein 335							56.0	49.0	51.0					20																	44582471		2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44582471G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2559C>T	20.37:g.44582471G>A						ZNF335_ENST00000426788.1_Silent_p.G698G	p.G853G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			18	2659	-		Myeloproliferative disorder(115;0.0122)	853					B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.2559C>T	CCDS13389.1																																																																																				0.642	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		38	151	0	0	0	1	0	38	151				
BBS7	55212	broad.mit.edu	37	4	122782737	122782737	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122782737G>T	ENST00000264499.4	-	4	446	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	88					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTAATCTCAGATGCTGCAGC	0.428									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(262-264)tCt>tAt		Bardet-Biedl syndrome 7							92.0	92.0	92.0					4																	122782737		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122782737G>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.263C>A	4.37:g.122782737G>T	ENSP00000264499:p.Ser88Tyr					BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	p.S88Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			4	446	-			88					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.263C>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741916	0.89573	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.92099	-2.97;-2.97	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.77103	2.36	0.80722	D	1	D;D	0.62365	0.991;0.98	P;P	0.59643	0.861;0.861	D	0.95737	0.8780	10	0.72032	D	0.01	-14.2789	19.328	0.94270	0.0:0.0:1.0:0.0	.	88;88	Q8IWZ6-2;Q8IWZ6	.;BBS7_HUMAN	Y	88	ENSP00000264499:S88Y;ENSP00000423626:S88Y	ENSP00000264499:S88Y	S	-	2	0	BBS7	123002187	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.443000	0.97568	2.559000	0.86315	0.591000	0.81541	TCT		0.428	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			18	269	1	0	1.01871e-10	1	1.082e-10	18	269				
MAST4	375449	broad.mit.edu	37	5	66459843	66459843	+	Silent	SNP	C	C	T	rs200132752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66459843C>T	ENST00000403625.2	+	29	5131	c.4836C>T	c.(4834-4836)agC>agT	p.S1612S	MAST4_ENST00000403666.1_Silent_p.S1423S|MAST4_ENST00000404260.3_Silent_p.S1615S|MAST4_ENST00000405643.1_Silent_p.S1433S|MAST4_ENST00000261569.7_Silent_p.S1418S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1615						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAGGCCAGCGTGCGCGCCA	0.657																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(4843-4845)agC>agT		microtubule associated serine/threonine kinase family member 4							13.0	14.0	14.0					5																	66459843		1993	4147	6140	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459843C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4836C>T	5.37:g.66459843C>T						MAST4_ENST00000405643.1_Silent_p.S1433S|MAST4_ENST00000403625.2_Silent_p.S1612S|MAST4_ENST00000261569.7_Silent_p.S1418S|MAST4_ENST00000403666.1_Silent_p.S1423S	p.S1615S			O15021	MAST4_HUMAN		Lung(70;0.011)	29	5153	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1615					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.4845C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.319	0.058585	0.08339	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.95	-0.0499	0.13833	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29731	-1.0002	4	.	.	.	-8.4791	9.1415	0.36906	0.0:0.5281:0.0:0.4719	.	.	.	.	C	669	.	.	R	+	1	0	MAST4	66495599	0.001000	0.12720	0.036000	0.18154	0.503000	0.33858	-0.134000	0.10436	-0.224000	0.09928	0.561000	0.74099	CGT		0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			11	59	0	0	0	1	0	11	59				
THOC6	79228	broad.mit.edu	37	16	3076711	3076711	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076711A>G	ENST00000326266.8	+	8	811	c.515A>G	c.(514-516)cAc>cGc	p.H172R	HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|HCFC1R1_ENST00000574151.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	172					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GACTACATCCACTGCCTGGCA	0.607																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(514-516)cAc>cGc		THO complex 6 homolog (Drosophila)							69.0	62.0	65.0					16																	3076711		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076711A>G	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.515A>G	16.37:g.3076711A>G	ENSP00000326531:p.His172Arg					THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R	p.H172R	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			8	811	+			172					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.515A>G	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152989	0.78001	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.57107	0.42;0.42	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	N	0.17248	0.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.967;0.979	T	0.51348	-0.8717	10	0.20046	T	0.44	-12.7575	13.695	0.62572	1.0:0.0:0.0:0.0	.	172;172	Q86W42-3;Q86W42	.;THOC6_HUMAN	R	172	ENSP00000326531:H172R;ENSP00000253952:H172R	ENSP00000253952:H172R	H	+	2	0	THOC6	3016712	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.814000	0.86154	2.125000	0.65367	0.459000	0.35465	CAC		0.607	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		32	109	0	0	0	1	0	32	109				
USP32P3	347716	broad.mit.edu	37	17	20320023	20320023	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20320023A>C	ENST00000583574.2	+	0	333									ubiquitin specific peptidase 32 pseudogene 3																		AATGCACCACACGTCAGCTCA	0.552																																						ENST00000583574.2																			0																																																			0							g.chr17:20320023A>C			17p11.2	2013-02-15			ENSG00000189423	ENSG00000189423			43576	pseudogene	pseudogene							Standard	NG_002719		Approved				OTTHUMG00000179809		17.37:g.20320023A>C														0	333	+									RNA	SNP	ENST00000583574.2	37																																																																																						0.552	USP32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467714.1	NG_002719		69	345	0	0	0	1	0	69	345				
CRYBA4	1413	broad.mit.edu	37	22	27021478	27021478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:27021478G>A	ENST00000354760.3	+	4	227	c.192G>A	c.(190-192)ggG>ggA	p.G64G	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	64	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTTCCAAGGGCAGCAGTACA	0.617																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(190-192)ggG>ggA		crystallin, beta A4							120.0	111.0	114.0					22																	27021478		2203	4300	6503	SO:0001819	synonymous_variant	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021478G>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.192G>A	22.37:g.27021478G>A						CRYBA4_ENST00000466315.1_3'UTR	p.G64G	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN			4	227	+			64			Beta/gamma crystallin 'Greek key' 2.		Q4VB22|Q6ICE4	Silent	SNP	ENST00000354760.3	37	c.192G>A	CCDS13841.1																																																																																				0.617	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		174	829	0	0	0	1	0	174	829				
DLAT	1737	broad.mit.edu	37	11	111910001	111910001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111910001G>A	ENST00000280346.6	+	7	1668	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	DLAT_ENST00000393051.1_Missense_Mutation_p.A232T|DLAT_ENST00000537636.1_Missense_Mutation_p.A108T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	337					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CCAGCCTTTAGCTCCTACACC	0.453																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1009-1011)Gct>Act		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						135.0	144.0	141.0					11																	111910001		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111910001G>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1009G>A	11.37:g.111910001G>A	ENSP00000280346:p.Ala337Thr					DLAT_ENST00000393051.1_Missense_Mutation_p.A232T|DLAT_ENST00000537636.1_Missense_Mutation_p.A108T	p.A337T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	7	1668	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	337					Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1009G>A	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622404	0.28889	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.26810	2.07;2.24;2.11;1.71	6.17	-2.07	0.07276	.	0.647368	0.16044	N	0.232293	T	0.11879	0.0289	N	0.24115	0.695	0.09310	N	0.999997	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.15235	-1.0444	10	0.35671	T	0.21	0.4748	2.7461	0.05268	0.2279:0.2008:0.468:0.1033	.	337;232;337	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	T	337;232;169;108	ENSP00000280346:A337T;ENSP00000376771:A232T;ENSP00000433432:A169T;ENSP00000442427:A108T	ENSP00000280346:A337T	A	+	1	0	DLAT	111415211	0.001000	0.12720	0.001000	0.08648	0.459000	0.32528	0.380000	0.20602	-0.023000	0.13963	-0.150000	0.13652	GCT		0.453	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		33	1119	0	0	0	1	0	33	1119				
ANK2	287	broad.mit.edu	37	4	113970914	113970914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113970914C>T	ENST00000357077.4	+	1	83	c.30C>T	c.(28-30)agC>agT	p.S10S	ANK2_ENST00000506722.1_Intron|RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000264366.6_Silent_p.S10S|ANK2_ENST00000394537.3_Silent_p.S10S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	10					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGAAAAGCGACAGTGGAG	0.438																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(28-30)agC>agT		ankyrin 2, neuronal							77.0	81.0	80.0					4																	113970914		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:113970914C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.30C>T	4.37:g.113970914C>T						RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Silent_p.S10S|ANK2_ENST00000264366.6_Silent_p.S10S	p.S10S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	1	83	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	10					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.30C>T	CCDS3702.1																																																																																				0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		25	177	0	0	0	1	0	25	177				
PIEZO1	9780	broad.mit.edu	37	16	88779151	88779151	+	IGR	SNP	G	G	A	rs148549191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88779151G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000378384.3_Missense_Mutation_p.G105D|CTU2_ENST00000312060.5_Missense_Mutation_p.G192D|CTU2_ENST00000453996.2_Missense_Mutation_p.G192D|CTU2_ENST00000567949.1_Missense_Mutation_p.G263D	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGGGCCGGGGGTGGTCCTGGC	0.692																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(787-789)gGt>gAt		cytosolic thiouridylase subunit 2 homolog (S. pombe)							16.0	21.0	19.0					16																	88779151		2189	4291	6480	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88779151G>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779151G>A						CTU2_ENST00000312060.5_Missense_Mutation_p.G192D|CTU2_ENST00000378384.3_Missense_Mutation_p.G105D|CTU2_ENST00000453996.2_Missense_Mutation_p.G192D	p.G263D			Q2VPK5	CTU2_HUMAN			7	797	+			192					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.788G>A	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149695	0.21288	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.17854	2.25;2.52;2.52	3.92	-3.67	0.04476	.	0.152892	0.42682	D	0.000675	T	0.06735	0.0172	N	0.13043	0.29	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.22977	-1.0201	10	0.27082	T	0.32	.	5.9226	0.19091	0.2995:0.2982:0.4022:0.0	.	105;192;192	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	D	105;192;192	ENSP00000367635:G105D;ENSP00000308617:G192D;ENSP00000388320:G192D	ENSP00000308617:G192D	G	+	2	0	CTU2	87306652	0.523000	0.26274	0.000000	0.03702	0.002000	0.02628	0.565000	0.23578	-0.703000	0.05049	-0.312000	0.09012	GGT		0.692	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		36	164	0	0	0	1	0	36	164				
DIP2C	22982	broad.mit.edu	37	10	410407	410407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410407C>T	ENST00000280886.6	-	20	2471	c.2384G>A	c.(2383-2385)gGc>gAc	p.G795D	DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	795						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCATGAGGCCATCCATCTT	0.617																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2383-2385)gGc>gAc		DIP2 disco-interacting protein 2 homolog C (Drosophila)							84.0	82.0	83.0					10																	410407		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:410407C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2384G>A	10.37:g.410407C>T	ENSP00000280886:p.Gly795Asp					DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D	p.G795D	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	20	2471	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	795					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.2384G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281958	0.59867	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.25749	3.43;1.78	5.26	5.26	0.73747	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.83275	0.996;0.91	T	0.53063	-0.8491	10	0.02654	T	1	-25.6232	18.871	0.92315	0.0:1.0:0.0:0.0	.	116;795	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	D	795;116	ENSP00000280886:G795D;ENSP00000443826:G116D	ENSP00000280886:G795D	G	-	2	0	DIP2C	400407	1.000000	0.71417	0.978000	0.43139	0.678000	0.39670	7.818000	0.86416	2.458000	0.83093	0.305000	0.20034	GGC		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		102	418	0	0	0	1	0	102	418				
CSNK1A1L	122011	broad.mit.edu	37	13	37679320	37679320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679320G>A	ENST00000379800.3	-	1	483	c.74C>T	c.(73-75)tCt>tTt	p.S25F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	25	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAAGGAGCCAGACCCGATCTT	0.557																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(73-75)tCt>tTt		casein kinase 1, alpha 1-like							133.0	123.0	127.0					13																	37679320		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679320G>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.74C>T	13.37:g.37679320G>A	ENSP00000369126:p.Ser25Phe						p.S25F	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	483	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	25			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.74C>T	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454180	0.26161	.	.	ENSG00000180138	ENST00000379800	T	0.68331	-0.32	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	H	0.98646	4.29	0.43137	D	0.994882	B	0.22800	0.075	B	0.27170	0.077	T	0.76203	-0.3045	10	0.87932	D	0	.	7.3576	0.26727	0.0:0.0:1.0:0.0	.	25	Q8N752	KC1AL_HUMAN	F	25	ENSP00000369126:S25F	ENSP00000369126:S25F	S	-	2	0	CSNK1A1L	36577320	0.053000	0.20554	0.920000	0.36463	0.996000	0.88848	1.522000	0.35921	0.686000	0.31488	0.561000	0.74099	TCT		0.557	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		62	451	0	0	0	1	0	62	451				
DENND6A	201627	broad.mit.edu	37	3	57616552	57616552	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57616552C>A	ENST00000311128.5	-	17	1478		c.e17-1		RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A						positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GAGGTGGACTCTAGAAAACAG	0.338																																						ENST00000311128.5																			0											c.e17-1		DENN/MADD domain containing 6A							67.0	68.0	67.0					3																	57616552		2201	4300	6501	SO:0001630	splice_region_variant	201627							g.chr3:57616552C>A	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1408-1G>T	3.37:g.57616552C>A						RP11-755B10.2_ENST00000470427.1_RNA		NM_152678.2	NP_689891.1					17	1478	-								Q7Z5T4|Q8N235|Q8TEG8	Splice_Site	SNP	ENST00000311128.5	37		CCDS33773.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641785	0.67244	.	.	ENSG00000174839	ENST00000311128;ENST00000471531	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM116A	57591592	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.658000	0.61497	2.822000	0.97130	0.557000	0.71058	.		0.338	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	Intron	46	168	1	0	2.00842e-17	1	2.21757e-17	46	168				
NARFL	64428	broad.mit.edu	37	16	784812	784812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:784812G>A	ENST00000251588.2	-	5	515	c.499C>T	c.(499-501)Cga>Tga	p.R167*	NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000540986.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000301694.5_Silent_p.S122S|HAGHL_ENST00000569604.1_3'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	167					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ACAAACTCTCGCTGGCTCTCC	0.647																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(193-195)Cga>Tga		nuclear prelamin A recognition factor-like							72.0	71.0	71.0					16																	784812		2200	4300	6500	SO:0001587	stop_gained	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:784812G>A	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.499C>T	16.37:g.784812G>A	ENSP00000251588:p.Arg167*					HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000251588.2_Nonsense_Mutation_p.R167*|NARFL_ENST00000301694.5_Silent_p.S122S|NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*	p.R65*			Q9H6Q4	NARFL_HUMAN			4	1628	-		Hepatocellular(780;0.0218)	167					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Nonsense_Mutation	SNP	ENST00000251588.2	37	c.193C>T	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	g	40	8.095785	0.98651	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	.	.	.	5.48	3.47	0.39725	.	0.111691	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-24.7795	8.8158	0.34996	0.0722:0.0:0.6566:0.2711	.	.	.	.	X	167;65	.	ENSP00000251588:R167X	R	-	1	2	NARFL	724813	0.965000	0.33210	0.958000	0.39756	0.920000	0.55202	1.599000	0.36751	0.641000	0.30601	0.561000	0.74099	CGA		0.647	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		96	361	0	0	0	1	0	96	361				
HNRNPUL1	11100	broad.mit.edu	37	19	41807498	41807498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41807498C>T	ENST00000392006.3	+	11	1749	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	526	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGCTTCCAGCGCAAAGCTAT	0.458																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1576-1578)Cgc>Tgc		heterogeneous nuclear ribonucleoprotein U-like 1							149.0	133.0	138.0					19																	41807498		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41807498C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1576C>T	19.37:g.41807498C>T	ENSP00000375863:p.Arg526Cys					HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C	p.R526C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			11	1749	+			526			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1576C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969155	0.92855	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.06	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.985;0.995;1.0;0.989;0.995;0.994	T	0.74383	-0.3683	10	0.87932	D	0	-15.4825	15.8696	0.79101	0.1364:0.8636:0.0:0.0	.	437;426;526;412;526;426	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	C	426;526;412;437	ENSP00000340857:R426C;ENSP00000375863:R526C;ENSP00000367460:R412C;ENSP00000263367:R437C	ENSP00000263367:R437C	R	+	1	0	HNRNPUL1	46499338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.025000	0.70864	1.547000	0.49401	0.650000	0.86243	CGC		0.458	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		135	488	0	0	0	1	0	135	488				
FLG2	388698	broad.mit.edu	37	1	152323561	152323561	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323561T>C	ENST00000388718.5	-	3	6773	c.6701A>G	c.(6700-6702)cAc>cGc	p.H2234R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2234					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAACCATAGTGGGCATGTCT	0.542																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6700-6702)cAc>cGc		filaggrin family member 2							411.0	375.0	387.0					1																	152323561		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323561T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6701A>G	1.37:g.152323561T>C	ENSP00000373370:p.His2234Arg					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H2234R	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6773	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2234					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6701A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	5.866	0.343922	0.11126	.	.	ENSG00000143520	ENST00000388718	T	0.03717	3.83	3.52	-0.349	0.12609	.	.	.	.	.	T	0.02533	0.0077	L	0.46157	1.445	0.09310	N	1	D	0.62365	0.991	D	0.65773	0.938	T	0.37267	-0.9713	9	0.19147	T	0.46	3.5718	2.6873	0.05111	0.1937:0.226:0.0:0.5803	.	2234	Q5D862	FILA2_HUMAN	R	2234	ENSP00000373370:H2234R	ENSP00000373370:H2234R	H	-	2	0	FLG2	150590185	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.973000	0.01500	-0.055000	0.13244	0.450000	0.29827	CAC		0.542	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		389	1938	0	0	0	1	0	389	1938				
PLEC	5339	broad.mit.edu	37	8	144991209	144991209	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991209G>A	ENST00000322810.4	-	32	13360	c.13191C>T	c.(13189-13191)ccC>ccT	p.P4397P	PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000398774.2_Silent_p.P4228P|PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000357649.2_Silent_p.P4264P|PLEC_ENST00000436759.2_Silent_p.P4287P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000354958.2_Silent_p.P4238P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4397	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGAGACGGCGGGGCTGATGG	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13189-13191)ccC>ccT		plectin							36.0	45.0	42.0					8																	144991209		2025	4179	6204	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991209G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13191C>T	8.37:g.144991209G>A						PLEC_ENST00000357649.2_Silent_p.P4264P|PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000398774.2_Silent_p.P4228P|PLEC_ENST00000354958.2_Silent_p.P4238P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000436759.2_Silent_p.P4287P	p.P4397P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13360	-			4397			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.13191C>T	CCDS43772.1																																																																																				0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		35	347	0	0	0	1	0	35	347				
OR10A6	390093	broad.mit.edu	37	11	7950054	7950054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7950054G>A	ENST00000309838.2	-	1	155	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAGGCTCTGGTCTAGGGAGA	0.478																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(154-156)gaC>gaT		olfactory receptor, family 10, subfamily A, member 6							115.0	109.0	111.0					11																	7950054		2201	4296	6497	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950054G>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.156C>T	11.37:g.7950054G>A							p.D52D	NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	155	-			52					Q6IF59	Silent	SNP	ENST00000309838.2	37	c.156C>T	CCDS31420.1																																																																																				0.478	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		116	527	0	0	0	1	0	116	527				
ZFYVE9	9372	broad.mit.edu	37	1	52703719	52703719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703719G>T	ENST00000371591.1	+	3	761	c.630G>T	c.(628-630)gaG>gaT	p.E210D	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E210D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	210					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATTCAGAGAAACAAATGG	0.368																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(628-630)gaG>gaT		zinc finger, FYVE domain containing 9							64.0	67.0	66.0					1																	52703719		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703719G>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.630G>T	1.37:g.52703719G>T	ENSP00000360647:p.Glu210Asp					ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.E210D|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E210D	p.E210D	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	802	+			210					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.630G>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604550	0.46423	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.12	3.0	0.34707	.	0.090443	0.45867	D	0.000335	T	0.46814	0.1412	N	0.24115	0.695	0.26594	N	0.973148	D;D;D	0.71674	0.996;0.994;0.998	D;D;D	0.76071	0.987;0.97;0.986	T	0.26326	-1.0106	10	0.29301	T	0.29	.	5.8444	0.18657	0.4275:0.0:0.5725:0.0	.	210;210;210	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	D	210	ENSP00000349737:E210D;ENSP00000355358:E210D;ENSP00000287727:E210D;ENSP00000360647:E210D	ENSP00000287727:E210D	E	+	3	2	ZFYVE9	52476307	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.675000	0.25232	0.558000	0.29135	0.655000	0.94253	GAG		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		91	361	1	0	4.05715e-38	1	4.88277e-38	91	361				
PHOX2B	8929	broad.mit.edu	37	4	41749444	41749444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:41749444G>A	ENST00000226382.2	-	2	710	c.351C>T	c.(349-351)ttC>ttT	p.F117F	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	117					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGTCTCCGCGAAGACCCTTT	0.622			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"""Mis, F"""	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(349-351)ttC>ttT		paired-like homeobox 2b							62.0	67.0	65.0					4																	41749444		2203	4300	6503	SO:0001819	synonymous_variant	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41749444G>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.351C>T	4.37:g.41749444G>A							p.F117F	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			2	710	-			117					Q6PJD9	Silent	SNP	ENST00000226382.2	37	c.351C>T	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	3.506	-0.100723	0.06967	.	.	ENSG00000109132	ENST00000510424	.	.	.	5.4	3.64	0.41730	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57423	-0.7814	4	.	.	.	.	9.8978	0.41329	0.2116:0.0:0.7884:0.0	.	.	.	.	L	57	.	.	S	-	2	0	PHOX2B	41444201	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.949000	0.29109	1.503000	0.48686	0.655000	0.94253	TCG		0.622	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			74	451	0	0	0	1	0	74	451				
CCDC69	26112	broad.mit.edu	37	5	150581210	150581210	+	Missense_Mutation	SNP	C	C	T	rs140977954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150581210C>T	ENST00000355417.2	-	3	338	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	55										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCTGGTGCCGCTCAGCCTC	0.448																																						ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(163-165)cGg>cAg		coiled-coil domain containing 69		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	163.0	145.0	151.0		164	0.3	0.2	5	dbSNP_134	151	2,8598	1.2+/-3.3	0,2,4298	yes	missense	CCDC69	NM_015621.2	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	55/297	150581210	3,13003	2203	4300	6503	SO:0001583	missense	26112							g.chr5:150581210C>T		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.164G>A	5.37:g.150581210C>T	ENSP00000347586:p.Arg55Gln					CCDC69_ENST00000521308.1_5'UTR	p.R55Q	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	338	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	55					A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	c.164G>A	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210283	0.06140	2.27E-4	2.33E-4	ENSG00000198624	ENST00000355417	T	0.20598	2.06	4.28	0.265	0.15612	.	0.987391	0.08243	N	0.975854	T	0.07413	0.0187	N	0.01576	-0.805	0.21355	N	0.999715	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.23891	T	0.37	-12.4226	7.9704	0.30124	0.0:0.195:0.0:0.805	.	55	A6NI79	CCD69_HUMAN	Q	55	ENSP00000347586:R55Q	ENSP00000347586:R55Q	R	-	2	0	CCDC69	150561403	0.933000	0.31639	0.158000	0.22627	0.025000	0.11179	0.372000	0.20467	-0.012000	0.14223	-1.119000	0.02030	CGG		0.448	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		89	357	0	0	0	1	0	89	357				
TBC1D12	23232	broad.mit.edu	37	10	96291155	96291155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96291155G>A	ENST00000225235.4	+	12	2307	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	733							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TATCACATCGGAAAAGCTGTT	0.358																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(2197-2199)Gaa>Aaa		TBC1 domain family, member 12							92.0	86.0	88.0					10																	96291155		1854	4093	5947	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96291155G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2197G>A	10.37:g.96291155G>A	ENSP00000225235:p.Glu733Lys					TBC1D12_ENST00000485048.1_3'UTR	p.E733K	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			12	2307	+		Colorectal(252;0.0429)	733					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.2197G>A	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426670	0.83667	.	.	ENSG00000108239	ENST00000225235	T	0.24151	1.87	5.31	5.31	0.75309	Rab-GAP/TBC domain (1);	0.166270	0.53938	D	0.000047	T	0.37919	0.1021	L	0.61218	1.895	0.53005	D	0.999969	P	0.50943	0.94	P	0.49140	0.601	T	0.14476	-1.0471	10	0.62326	D	0.03	-9.8376	16.527	0.84333	0.0:0.0:1.0:0.0	.	733	O60347	TBC12_HUMAN	K	733	ENSP00000225235:E733K	ENSP00000225235:E733K	E	+	1	0	TBC1D12	96281145	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.199000	0.51043	2.768000	0.95171	0.650000	0.86243	GAA		0.358	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			96	409	0	0	0	1	0	96	409				
DGKZ	8525	broad.mit.edu	37	11	46387913	46387913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387913G>A	ENST00000454345.1	+	2	232	c.107G>A	c.(106-108)cGc>cAc	p.R36H	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	36					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCGGCGTCGCTCCCCCGCT	0.716																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(106-108)cGc>cAc		diacylglycerol kinase, zeta																																				SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46387913G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.107G>A	11.37:g.46387913G>A	ENSP00000412178:p.Arg36His					DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron	p.R36H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	232	+			36					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.107G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449932	0.84101	.	.	ENSG00000149091	ENST00000454345	T	0.81330	-1.48	4.53	4.53	0.55603	.	0.707951	0.11658	N	0.542176	D	0.83658	0.5302	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	D	0.84401	0.0560	10	0.87932	D	0	.	17.6789	0.88237	0.0:0.0:1.0:0.0	.	36	Q13574	DGKZ_HUMAN	H	36	ENSP00000412178:R36H	ENSP00000412178:R36H	R	+	2	0	DGKZ	46344489	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	8.687000	0.91255	2.234000	0.73211	0.563000	0.77884	CGC		0.716	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		5	42	0	0	0	1	0	5	42				
TBR1	10716	broad.mit.edu	37	2	162273024	162273024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273024C>T	ENST00000389554.3	+	1	420	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	35					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCTTGTCTTGCACGATCATCC	0.468																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(103-105)Cac>Tac		T-box, brain, 1							67.0	69.0	69.0					2																	162273024		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273024C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.103C>T	2.37:g.162273024C>T	ENSP00000374205:p.His35Tyr						p.H35Y	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			1	420	+			35					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.103C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518173	0.27211	.	.	ENSG00000136535	ENST00000389554	D	0.86497	-2.13	5.15	5.15	0.70609	.	0.346719	0.30446	N	0.009620	T	0.79528	0.4461	L	0.29908	0.895	0.80722	D	1	P	0.35745	0.518	B	0.23150	0.044	T	0.81409	-0.0946	10	0.59425	D	0.04	.	17.7843	0.88533	0.0:1.0:0.0:0.0	.	35	Q16650	TBR1_HUMAN	Y	35	ENSP00000374205:H35Y	ENSP00000374205:H35Y	H	+	1	0	TBR1	161981270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.688000	0.91661	0.655000	0.94253	CAC		0.468	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		64	307	0	0	0	1	0	64	307				
OR10C1	442194	broad.mit.edu	37	6	29408013	29408013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408013C>T	ENST00000444197.2	+	1	931	c.221C>T	c.(220-222)tCt>tTt	p.S74F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTATACGTCTGTCACGGTC	0.557																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(220-222)tCt>tTt		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							167.0	147.0	154.0					6																	29408013		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408013C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.221C>T	6.37:g.29408013C>T	ENSP00000419119:p.Ser74Phe					OR11A1_ENST00000377149.1_Intron	p.S74F	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	931	+			74					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.221C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713759	0.15306	.	.	ENSG00000206474	ENST00000444197	T	0.03181	4.02	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002426	T	0.03011	0.0089	M	0.83223	2.63	0.09310	N	1	B	0.22003	0.063	B	0.28305	0.088	T	0.17440	-1.0369	10	0.49607	T	0.09	.	9.1445	0.36923	0.0:0.8952:0.0:0.1048	.	74	Q96KK4	O10C1_HUMAN	F	74	ENSP00000419119:S74F	ENSP00000419119:S74F	S	+	2	0	OR10C1	29515992	0.017000	0.18338	0.026000	0.17262	0.008000	0.06430	2.401000	0.44513	1.946000	0.56461	0.430000	0.28490	TCT		0.557	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			113	512	0	0	0	1	0	113	512				
MIA	8190	broad.mit.edu	37	19	41281451	41281451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41281451G>A	ENST00000263369.3	+	1	170	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	RAB4B_ENST00000594800.1_5'Flank|MIA_ENST00000594436.1_Missense_Mutation_p.A2T|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA-RAB4B_ENST00000600729.1_Missense_Mutation_p.A2T|MIA_ENST00000597784.1_Missense_Mutation_p.A2T|RAB4B_ENST00000357052.2_5'Flank	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	2					cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		GTCCACGATGGCCCGGTCCCT	0.587																																						ENST00000600729.1																			0											c.(4-6)Gcc>Acc									176.0	157.0	163.0					19																	41281451		2203	4300	6503	SO:0001583	missense	0							g.chr19:41281451G>A	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.4G>A	19.37:g.41281451G>A	ENSP00000263369:p.Ala2Thr					MIA_ENST00000263369.3_Missense_Mutation_p.A2T|MIA_ENST00000594436.1_Missense_Mutation_p.A2T|MIA_ENST00000597784.1_Missense_Mutation_p.A2T	p.A2T							2	426	+								Q6FHV3	Missense_Mutation	SNP	ENST00000263369.3	37	c.4G>A	CCDS12566.1	.	.	.	.	.	.	.	.	.	.	G	5.107	0.205446	0.09704	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	T	0.48201	0.82	4.17	0.864	0.19068	.	1.179790	0.06624	U	0.758034	T	0.37598	0.1009	L	0.47716	1.5	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.25328	-1.0135	10	0.21540	T	0.41	-12.7924	5.8375	0.18615	0.3372:0.0:0.6628:0.0	.	2	Q16674	MIA_HUMAN	T	2	ENSP00000263369:A2T	ENSP00000263369:A2T	A	+	1	0	RAB4B	45973291	0.991000	0.36638	0.466000	0.27168	0.299000	0.27559	1.848000	0.39309	0.509000	0.28195	0.561000	0.74099	GCC		0.587	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			30	971	0	0	0	1	0	30	971				
TRIM67	440730	broad.mit.edu	37	1	231339671	231339671	+	Silent	SNP	G	G	A	rs371749809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231339671G>A	ENST00000366653.5	+	6	1593	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	TRIM67_ENST00000444294.3_Silent_p.T529T|TRIM67_ENST00000366652.2_Silent_p.T531T|TRIM67_ENST00000449018.3_Silent_p.T469T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	531	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACAGCGTCACGCTGGCCTGGA	0.652																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1585-1587)acG>acA		tripartite motif containing 67							48.0	59.0	55.0					1																	231339671		2121	4222	6343	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339671G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1593G>A	1.37:g.231339671G>A						TRIM67_ENST00000366652.2_Silent_p.T531T|TRIM67_ENST00000449018.3_Silent_p.T469T|TRIM67_ENST00000366653.5_Silent_p.T531T	p.T529T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			6	2445	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	531			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1587G>A	CCDS44333.1																																																																																				0.652	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		6	169	0	0	0	1	0	6	169				
DYRK4	8798	broad.mit.edu	37	12	4721773	4721773	+	Missense_Mutation	SNP	C	C	T	rs374813443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4721773C>T	ENST00000540757.2	+	12	1370	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	DYRK4_ENST00000010132.5_Missense_Mutation_p.R404W|DYRK4_ENST00000543431.1_Missense_Mutation_p.R404W|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000545342.1_Missense_Mutation_p.R41W	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	404						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TCATCAGTCTCGGAACCTCAA	0.537																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1210-1212)Cgg>Tgg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4		C	TRP/ARG	0,4406		0,0,2203	103.0	95.0	98.0		1210	-0.5	0.0	12		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	DYRK4	NM_003845.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	404/521	4721773	1,13005	2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4721773C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1210C>T	12.37:g.4721773C>T	ENSP00000441755:p.Arg404Trp					DYRK4_ENST00000543431.1_Missense_Mutation_p.R404W|DYRK4_ENST00000010132.5_Missense_Mutation_p.R404W|DYRK4_ENST00000545342.1_Missense_Mutation_p.R41W	p.R404W	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		12	1370	+			404					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.1210C>T	CCDS8530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.19|10.19	1.281722|1.281722	0.23392|0.23392	0.0|0.0	1.16E-4|1.16E-4	ENSG00000010219|ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342|ENST00000544671	T;T;T;T;T|T	0.74737|0.71934	2.04;2.04;2.04;2.04;-0.87|-0.61	5.28|5.28	-0.478|-0.478	0.12093|0.12093	Protein kinase-like domain (1);|.	0.396379|.	0.24742|.	N|.	0.035971|.	T|T	0.63628|0.63628	0.2527|0.2527	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	0.999999|0.999999	B;D;D;B|.	0.71674|.	0.007;0.984;0.998;0.219|.	B;B;P;B|.	0.52856|.	0.003;0.302;0.711;0.012|.	T|T	0.54166|0.54166	-0.8334|-0.8334	10|7	0.72032|0.33141	D|T	0.01|0.24	.|.	5.7225|5.7225	0.17995|0.17995	0.5772:0.2586:0.0:0.1642|0.5772:0.2586:0.0:0.1642	.|.	519;118;404;404|.	F5H6L9;B4E1A4;Q9NR20-2;Q9NR20|.	.;.;.;DYRK4_HUMAN|.	W|L	519;404;404;404;41|65	ENSP00000437534:R519W;ENSP00000441755:R404W;ENSP00000010132:R404W;ENSP00000439697:R404W;ENSP00000446005:R41W|ENSP00000438769:S65L	ENSP00000010132:R404W|ENSP00000438769:S65L	R|S	+|+	1|2	2|0	DYRK4|DYRK4	4592034|4592034	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.457000|0.457000	0.32468|0.32468	0.250000|0.250000	0.18235|0.18235	0.053000|0.053000	0.16036|0.16036	-0.152000|-0.152000	0.13540|0.13540	CGG|TCG		0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			86	467	0	0	0	1	0	86	467				
SGMS1	259230	broad.mit.edu	37	10	52103414	52103414	+	Missense_Mutation	SNP	G	G	A	rs141885016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52103414G>A	ENST00000361781.2	-	7	1420	c.461C>T	c.(460-462)tCg>tTg	p.S154L	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	160					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGACGACCGAGATCATCAC	0.507																																						ENST00000361781.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(460-462)tCg>tTg		sphingomyelin synthase 1		G	LEU/SER	0,4406		0,0,2203	69.0	62.0	64.0		461	5.6	1.0	10	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SGMS1	NM_147156.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	154/414	52103414	1,13005	2203	4300	6503	SO:0001583	missense	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52103414G>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.461C>T	10.37:g.52103414G>A	ENSP00000354829:p.Ser154Leu					SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L	p.S154L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN			7	1420	-			160					Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	c.461C>T	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310062	0.81247	0.0	1.16E-4	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.45668	0.98;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.52011	1.625	0.58432	D	0.999998	D	0.57571	0.98	P	0.48488	0.579	T	0.47355	-0.9124	10	0.56958	D	0.05	-9.9208	17.1838	0.86861	0.0:0.0:1.0:0.0	.	160	Q86VZ5	SMS1_HUMAN	L	154	ENSP00000354829:S154L;ENSP00000355235:S154L	ENSP00000355235:S154L	S	-	2	0	SGMS1	51773420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.648000	0.89879	0.650000	0.86243	TCG		0.507	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		66	230	0	0	0	1	0	66	230				
NES	10763	broad.mit.edu	37	1	156640644	156640644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156640644G>A	ENST00000368223.3	-	4	3468	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1112	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTCAGATGGCCTGGGTCCC	0.642																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(3334-3336)ggC>ggT		nestin							33.0	35.0	34.0					1																	156640644		2202	4299	6501	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640644G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3336C>T	1.37:g.156640644G>A							p.G1112G	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	3468	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1112			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.3336C>T	CCDS1151.1																																																																																				0.642	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		45	266	0	0	0	1	0	45	266				
HAPLN3	145864	broad.mit.edu	37	15	89421412	89421412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421412G>A	ENST00000359595.3	-	5	1086	c.872C>T	c.(871-873)gCc>gTc	p.A291V	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A353V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	291	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GGCGATCGTGGCATCATCTTC	0.647																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(871-873)gCc>gTc		hyaluronan and proteoglycan link protein 3							160.0	146.0	151.0					15																	89421412		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421412G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.872C>T	15.37:g.89421412G>A	ENSP00000352606:p.Ala291Val					HAPLN3_ENST00000562889.1_Missense_Mutation_p.A353V	p.A291V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			5	1086	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		291			Link 2.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.872C>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170122	0.57584	.	.	ENSG00000140511	ENST00000359595	T	0.47869	0.83	4.7	4.7	0.59300	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.181464	0.46758	D	0.000268	T	0.79209	0.4407	H	0.96604	3.85	0.44652	D	0.997635	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.87004	0.2118	10	0.87932	D	0	-25.7978	16.5998	0.84810	0.0:0.0:1.0:0.0	.	291;291	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	291	ENSP00000352606:A291V	ENSP00000352606:A291V	A	-	2	0	HAPLN3	87222416	1.000000	0.71417	0.264000	0.24511	0.010000	0.07245	5.495000	0.66912	2.306000	0.77630	0.655000	0.94253	GCC		0.647	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		160	801	0	0	0	1	0	160	801				
REXO1	57455	broad.mit.edu	37	19	1820033	1820033	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1820033G>T	ENST00000170168.4	-	7	2644	c.2550C>A	c.(2548-2550)gcC>gcA	p.A850A	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	850						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGTCATAGGCCACCTTCT	0.682																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(2548-2550)gcC>gcA		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							37.0	35.0	36.0					19																	1820033		2203	4300	6503	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1820033G>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2550C>A	19.37:g.1820033G>T							p.A850A	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	2644	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	850					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2550C>A	CCDS32866.1																																																																																				0.682	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		13	242	1	0	2.27111e-07	1	2.35674e-07	13	242				
MCPH1	79648	broad.mit.edu	37	8	6302292	6302292	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6302292G>T	ENST00000344683.5	+	8	1125	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M|MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	350					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCAAGACCCAGGAGTTCCTCA	0.453																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1048-1050)aGg>aTg		microcephalin 1							44.0	41.0	42.0					8																	6302292		1881	4119	6000	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6302292G>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1049G>T	8.37:g.6302292G>T	ENSP00000342924:p.Arg350Met					MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M|MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M	p.R350M	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1125	+		Hepatocellular(245;0.0663)	350					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.1049G>T	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789857	0.31685	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10005	2.92;2.92;2.92	5.29	-10.6	0.00265	.	1.665360	0.02325	N	0.073407	T	0.08403	0.0209	L	0.28274	0.84	0.09310	N	1	P;B;P	0.36599	0.56;0.075;0.56	B;B;B	0.44315	0.446;0.091;0.446	T	0.19257	-1.0311	10	0.27785	T	0.31	-0.9165	5.3618	0.16091	0.1852:0.0909:0.5436:0.1803	.	302;350;350	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	M	350;350;302	ENSP00000342924:R350M;ENSP00000430962:R350M;ENSP00000430768:R302M	ENSP00000342924:R350M	R	+	2	0	MCPH1	6289700	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.526000	0.02229	-2.319000	0.00643	-0.961000	0.02630	AGG		0.453	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		30	181	1	0	1.16021e-09	1	1.22295e-09	30	181				
EHD3	30845	broad.mit.edu	37	2	31467303	31467303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31467303G>A	ENST00000322054.5	+	2	676	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	131	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTTTGGCAACGCCTTCTTGAA	0.537																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(391-393)Gcc>Acc		EH-domain containing 3							115.0	91.0	99.0					2																	31467303		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31467303G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.391G>A	2.37:g.31467303G>A	ENSP00000327116:p.Ala131Thr					EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	p.A131T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			2	676	+	Acute lymphoblastic leukemia(172;0.155)		131					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.391G>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989006	0.74589	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	D;D	0.95588	-3.75;-3.75	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	L	0.44542	1.39	0.80722	D	1	B;B	0.29835	0.207;0.258	B;B	0.32393	0.074;0.145	D	0.91218	0.5004	10	0.38643	T	0.18	-18.8688	19.8471	0.96713	0.0:0.0:1.0:0.0	.	131;131	B4DFR5;Q9NZN3	.;EHD3_HUMAN	T	131	ENSP00000440685:A131T;ENSP00000327116:A131T	ENSP00000327116:A131T	A	+	1	0	EHD3	31320807	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.688000	0.91661	0.655000	0.94253	GCC		0.537	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		72	186	0	0	0	1	0	72	186				
NDUFA8	4702	broad.mit.edu	37	9	124914656	124914656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124914656G>A	ENST00000373768.3	-	2	224	c.83C>T	c.(82-84)gCg>gTg	p.A28V	NDUFA8_ENST00000537618.1_Missense_Mutation_p.A28V	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	28					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						GTGATGGGCCGCAGCTTTAAG	0.478																																						ENST00000537618.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(82-84)gCg>gTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	NADH(DB00157)						60.0	52.0	55.0					9																	124914656		2203	4300	6503	SO:0001583	missense	4702				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:124914656G>A	AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"""Mitochondrial respiratory chain complex / Complex I"""	7692	protein-coding gene	gene with protein product	"""complex I PGIV subunit"""	603359	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"""			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.83C>T	9.37:g.124914656G>A	ENSP00000362873:p.Ala28Val					NDUFA8_ENST00000373768.3_Missense_Mutation_p.A28V	p.A28V			P51970	NDUA8_HUMAN			2	192	-			28					B1AM93|Q9Y6N0	Missense_Mutation	SNP	ENST00000373768.3	37	c.83C>T	CCDS6835.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428595	0.83667	.	.	ENSG00000119421	ENST00000537618;ENST00000373768	T;D	0.84730	-1.19;-1.89	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.91030	0.7178	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.91538	0.5247	10	0.51188	T	0.08	-19.6724	15.7391	0.77870	0.0:0.0:1.0:0.0	.	28	P51970	NDUA8_HUMAN	V	28	ENSP00000442247:A28V;ENSP00000362873:A28V	ENSP00000362873:A28V	A	-	2	0	NDUFA8	123954477	1.000000	0.71417	0.926000	0.36857	0.953000	0.61014	8.846000	0.92159	2.310000	0.77875	0.643000	0.83706	GCG		0.478	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1	NM_014222		38	162	0	0	0	1	0	38	162				
CDH12	1010	broad.mit.edu	37	5	22078698	22078698	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:22078698T>G	ENST00000382254.1	-	5	1174	c.88A>C	c.(88-90)Act>Cct	p.T30P	CDH12_ENST00000504376.2_Missense_Mutation_p.T30P|CDH12_ENST00000522262.1_Missense_Mutation_p.T30P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	30					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGGCTAAAGTCTGCTGTGGC	0.453										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(88-90)Act>Cct		cadherin 12, type 2 (N-cadherin 2)							202.0	202.0	202.0					5																	22078698		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078698T>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.88A>C	5.37:g.22078698T>G	ENSP00000371689:p.Thr30Pro	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.T30P|CDH12_ENST00000522262.1_Missense_Mutation_p.T30P	p.T30P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			5	1174	-			30					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.88A>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114372	0.37339	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.57436	0.46;0.46;0.4	5.57	5.57	0.84162	.	0.200215	0.52532	D	0.000078	T	0.29620	0.0739	N	0.08118	0	0.39251	D	0.964037	P;P	0.38922	0.651;0.651	B;B	0.31614	0.133;0.133	T	0.27191	-1.0081	10	0.25751	T	0.34	.	14.3088	0.66403	0.0:0.0:0.0:1.0	.	30;30	B7Z2U6;P55289	.;CAD12_HUMAN	P	30	ENSP00000423577:T30P;ENSP00000371689:T30P;ENSP00000428786:T30P	ENSP00000371689:T30P	T	-	1	0	CDH12	22114455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.068000	0.64364	2.131000	0.65755	0.454000	0.30748	ACT		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		167	851	0	0	0	1	0	167	851				
SUCLG1	8802	broad.mit.edu	37	2	84668499	84668499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668499C>A	ENST00000393868.2	-	4	613	c.403G>T	c.(403-405)Gca>Tca	p.A135S		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	135					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GGAATTTCTGCCTCAATAGCT	0.473																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(403-405)Gca>Tca		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						91.0	87.0	88.0					2																	84668499		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84668499C>A	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.403G>T	2.37:g.84668499C>A	ENSP00000377446:p.Ala135Ser						p.A135S	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			4	613	-			135					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.403G>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633051	0.87660	.	.	ENSG00000163541	ENST00000393868	D	0.85484	-1.99	5.59	5.59	0.84812	CoA-binding (2);NAD(P)-binding domain (1);	0.048024	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82823	2.61	0.80722	D	1	D;D	0.65815	0.995;0.965	D;D	0.87578	0.998;0.955	D	0.93114	0.6519	10	0.62326	D	0.03	4.4456	17.4491	0.87587	0.0:1.0:0.0:0.0	.	135;135	B7Z438;P53597	.;SUCA_HUMAN	S	135	ENSP00000377446:A135S	ENSP00000377446:A135S	A	-	1	0	SUCLG1	84522010	1.000000	0.71417	0.982000	0.44146	0.434000	0.31775	7.769000	0.85360	2.793000	0.96121	0.561000	0.74099	GCA		0.473	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		16	371	1	0	1.02788e-11	1	1.09837e-11	16	371				
INPP5J	27124	broad.mit.edu	37	22	31529975	31529975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31529975G>A	ENST00000331075.5	+	13	2640	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N|INPP5J_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	864	Ser-rich.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GAGGATGACAGCACACTGGAG	0.647																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(2590-2592)aGc>aAc		inositol polyphosphate-5-phosphatase J							23.0	28.0	26.0					22																	31529975		2177	4279	6456	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31529975G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2591G>A	22.37:g.31529975G>A	ENSP00000333262:p.Ser864Asn					INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N|INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N	p.S864N			Q15735	PI5PA_HUMAN			13	2640	+			864			Ser-rich.		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.2591G>A		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716751	0.89205	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	D;D;D;D;D;D;D;D	0.99311	-5.23;-5.21;-5.27;-5.27;-5.26;-5.73;-4.44;-4.44	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	D	0.98902	0.9628	L	0.32530	0.975	0.49687	D	0.999815	D;D;D;D	0.89917	0.999;0.999;1.0;0.993	D;D;D;D	0.69479	0.964;0.922;0.963;0.91	D	0.99927	1.1295	10	0.87932	D	0	.	18.2558	0.90019	0.0:0.0:1.0:0.0	.	497;203;864;496	Q15735-2;B5MCL8;Q15735;Q15735-3	.;.;PI5PA_HUMAN;.	N	864;797;497;497;496;203;229;229	ENSP00000333262:S864N;ENSP00000392924:S797N;ENSP00000383150:S497N;ENSP00000384596:S497N;ENSP00000384534:S496N;ENSP00000385264:S203N;ENSP00000385343:S229N;ENSP00000384540:S229N	ENSP00000333262:S864N	S	+	2	0	INPP5J	29859975	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.493000	0.73658	2.610000	0.88304	0.655000	0.94253	AGC		0.647	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		12	116	0	0	0	1	0	12	116				
HEXB	3074	broad.mit.edu	37	5	74009400	74009400	+	Nonsense_Mutation	SNP	C	C	T	rs138914144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74009400C>T	ENST00000261416.7	+	7	958	c.841C>T	c.(841-843)Cga>Tga	p.R281*	HEXB_ENST00000511181.1_Nonsense_Mutation_p.R56*	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	281					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGCCAGATTACGAGGAATTCG	0.343																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000511181.1																			0				endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(166-168)Cga>Tga		hexosaminidase B (beta polypeptide)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	152.0	150.0	151.0		841	3.7	1.0	5	dbSNP_134	151	0,8600		0,0,4300	no	stop-gained	HEXB	NM_000521.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		281/557	74009400	1,13005	2203	4300	6503	SO:0001587	stop_gained	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:74009400C>T	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.841C>T	5.37:g.74009400C>T	ENSP00000261416:p.Arg281*					HEXB_ENST00000261416.7_Nonsense_Mutation_p.R281*	p.R56*			P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	7	1078	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	281						Nonsense_Mutation	SNP	ENST00000261416.7	37	c.166C>T	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	C	46	12.186262	0.99644	2.27E-4	0.0	ENSG00000049860	ENST00000511181;ENST00000261416	.	.	.	5.59	3.71	0.42584	.	0.097811	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9659	8.8862	0.35404	0.2495:0.6724:0.0:0.0781	.	.	.	.	X	56;281	.	ENSP00000261416:R281X	R	+	1	2	HEXB	74045156	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	2.131000	0.42074	1.358000	0.45922	0.555000	0.69702	CGA		0.343	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		97	501	0	0	0	1	0	97	501				
NFATC1	4772	broad.mit.edu	37	18	77287542	77287542	+	Nonsense_Mutation	SNP	C	C	T	rs372768753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77287542C>T	ENST00000427363.2	+	10	2797	c.2797C>T	c.(2797-2799)Cga>Tga	p.R933*	NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R703*|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.R920*|NFATC1_ENST00000590172.1_3'UTR			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	933	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TGAAATAATACGAAATGACCT	0.428																																					GBM(151;1210 2593 28719 45011)	ENST00000329101.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2758-2760)Cga>Tga		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							112.0	114.0	113.0					18																	77287542		2203	4300	6503	SO:0001587	stop_gained	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77287542C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2797C>T	18.37:g.77287542C>T	ENSP00000389377:p.Arg933*					NFATC1_ENST00000590172.1_3'UTR|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R703*|NFATC1_ENST00000427363.2_Nonsense_Mutation_p.R933*	p.R920*	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	10	2814	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	933			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Nonsense_Mutation	SNP	ENST00000427363.2	37	c.2758C>T		.	.	.	.	.	.	.	.	.	.	c	18.98	3.738555	0.69304	.	.	ENSG00000131196	ENST00000318065;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000397794	.	.	.	4.93	1.79	0.24919	.	0.481200	0.17773	N	0.162505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-0.8441	5.9129	0.19039	0.2614:0.5513:0.0:0.1874	.	.	.	.	X	933;703;920;461;897	.	ENSP00000316553:R933X	R	+	1	2	NFATC1	75388530	1.000000	0.71417	0.020000	0.16555	0.438000	0.31896	1.806000	0.38892	0.480000	0.27534	0.580000	0.79431	CGA		0.428	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		30	315	0	0	0	1	0	30	315				
KIAA2018	205717	broad.mit.edu	37	3	113374605	113374605	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113374605G>A	ENST00000478658.1	-	5	5941	c.5924C>T	c.(5923-5925)cCc>cTc	p.P1975L	KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1975L|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1975						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGATCTCTGGGGAACTGAAGA	0.493																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5923-5925)cCc>cTc		KIAA2018							76.0	74.0	75.0					3																	113374605		2078	4214	6292	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374605G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5924C>T	3.37:g.113374605G>A	ENSP00000420721:p.Pro1975Leu					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1975L	p.P1975L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	6334	-			1975					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.5924C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	g	12.16	1.855688	0.32791	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.12984	2.63;2.63	5.86	4.97	0.65823	.	0.406622	0.27270	N	0.020135	T	0.09423	0.0232	N	0.08118	0	0.37637	D	0.921903	B	0.20887	0.049	B	0.16722	0.016	T	0.12889	-1.0530	10	0.66056	D	0.02	-0.8651	16.9128	0.86144	0.0:0.1281:0.8719:0.0	.	1975	Q68DE3	K2018_HUMAN	L	1975	ENSP00000320794:P1975L;ENSP00000420721:P1975L	ENSP00000320794:P1975L	P	-	2	0	KIAA2018	114857295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.066000	0.57520	1.443000	0.47586	0.558000	0.71614	CCC		0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		8	126	0	0	0	1	0	8	126				
HBB	3043	broad.mit.edu	37	11	5248009	5248009	+	Nonsense_Mutation	SNP	C	C	T	rs33991059|rs63750532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5248009C>T	ENST00000335295.4	-	2	162	c.113G>A	c.(112-114)tGg>tAg	p.W38*	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	38			W -> G (in Howick). {ECO:0000269|PubMed:8144352}.|W -> R (in Rothschild; O(2) affinity down).|W -> S (in Hirose; O(2) affinity up).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCTCTGGGTCCAAGGGTAGAC	0.522									Sickle Cell Trait																													ENST00000335295.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15	GRCh37	CM950613	HBB	M	rs33991059	c.(112-114)tGg>tAg		hemoglobin, beta	Iron Dextran(DB00893)						87.0	86.0	87.0					11																	5248009		2201	4298	6499	SO:0001587	stop_gained	3043	Sickle Cell Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5248009C>T	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.113G>A	11.37:g.5248009C>T	ENSP00000333994:p.Trp38*						p.W38*	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	288	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	38		W -> G (in Howick).|W -> R (in Rothschild; O(2) affinity down).|W -> S (in Hirose; O(2) affinity up).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Nonsense_Mutation	SNP	ENST00000335295.4	37	c.113G>A	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	37	6.631953	0.97722	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8281	17.6123	0.88058	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000333994:W38X	W	-	2	0	HBB	5204585	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.308000	0.65768	2.812000	0.96745	0.555000	0.69702	TGG		0.522	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		69	307	0	0	0	1	0	69	307				
MAP3K19	80122	broad.mit.edu	37	2	135743975	135743975	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135743975C>A	ENST00000375845.3	-	7	2497	c.2467G>T	c.(2467-2469)Gac>Tac	p.D823Y	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.D710Y|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.D840Y	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	823							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTAGAAATGTCTCTATCACCA	0.418																																						ENST00000375845.3																			0											c.(2467-2469)Gac>Tac		mitogen-activated protein kinase kinase kinase 19							96.0	92.0	93.0					2																	135743975		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135743975C>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2467G>T	2.37:g.135743975C>A	ENSP00000365005:p.Asp823Tyr					MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.D840Y|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.D710Y|MAP3K19_ENST00000375844.3_Intron	p.D823Y	NM_025052.3	NP_079328.3					7	2497	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2467G>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	7.415	0.635618	0.14322	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.76316	-0.95;-0.92;1.36;-1.01	4.87	3.99	0.46301	.	0.406324	0.20823	N	0.085038	T	0.81456	0.4826	L	0.42245	1.32	0.27706	N	0.945617	D;D;D	0.89917	0.999;1.0;0.998	D;D;P	0.69479	0.939;0.964;0.87	T	0.73300	-0.4026	10	0.87932	D	0	.	9.5128	0.39087	0.0:0.8397:0.0:0.1603	.	710;840;823	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Y	823;710;840;213	ENSP00000365005:D823Y;ENSP00000351140:D710Y;ENSP00000376647:D840Y;ENSP00000392827:D213Y	ENSP00000351140:D710Y	D	-	1	0	YSK4	135460445	0.063000	0.20901	0.066000	0.19879	0.084000	0.17831	1.159000	0.31749	1.261000	0.44149	0.462000	0.41574	GAC		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		45	365	1	0	1.00953e-15	1	1.10482e-15	45	365				
GALNT5	11227	broad.mit.edu	37	2	158115529	158115529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115529G>A	ENST00000259056.4	+	1	1420	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	312					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGGGCTCATGGGAAGAAACTC	0.403																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(934-936)gGg>gAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							65.0	70.0	68.0					2																	158115529		2203	4299	6502	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115529G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.935G>A	2.37:g.158115529G>A	ENSP00000259056:p.Gly312Glu						p.G312E	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			1	1420	+			312					A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.935G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554576	0.27739	.	.	ENSG00000136542	ENST00000259056	T	0.56611	0.45	5.66	2.83	0.33086	.	3.644830	0.00687	N	0.000710	T	0.37183	0.0994	N	0.24115	0.695	0.26770	N	0.969815	B	0.25719	0.132	B	0.17098	0.017	T	0.28038	-1.0056	10	0.38643	T	0.18	.	1.5072	0.02489	0.1653:0.1536:0.4248:0.2563	.	312	Q7Z7M9	GALT5_HUMAN	E	312	ENSP00000259056:G312E	ENSP00000259056:G312E	G	+	2	0	GALNT5	157823775	0.996000	0.38824	0.499000	0.27577	0.667000	0.39255	0.943000	0.29030	0.834000	0.34852	0.655000	0.94253	GGG		0.403	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		37	497	0	0	0	1	0	37	497				
LZIC	84328	broad.mit.edu	37	1	9990509	9990509	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9990509C>A	ENST00000377223.1	-	8	768	c.521G>T	c.(520-522)gGa>gTa	p.G174V	LZIC_ENST00000400903.2_Missense_Mutation_p.G174V|LZIC_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000541052.1_Missense_Mutation_p.G195V	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	174					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		AATTTTGTCTCCAGAGCCTAA	0.313																																						ENST00000377223.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(520-522)gGa>gTa		leucine zipper and CTNNBIP1 domain containing							152.0	165.0	161.0					1																	9990509		2203	4300	6503	SO:0001583	missense	84328						beta-catenin binding	g.chr1:9990509C>A	AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.521G>T	1.37:g.9990509C>A	ENSP00000366430:p.Gly174Val					LZIC_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000541052.1_Missense_Mutation_p.G195V|LZIC_ENST00000400903.2_Missense_Mutation_p.G174V	p.G174V			Q8WZA0	LZIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)	8	768	-		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	174					B2R6F0|B4E2N0|Q96IU1	Missense_Mutation	SNP	ENST00000377223.1	37	c.521G>T	CCDS107.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381272	0.61845	.	.	ENSG00000162441	ENST00000377223;ENST00000400903;ENST00000541052;ENST00000377213	T;T;T;T	0.47869	0.87;0.87;0.83;0.87	5.58	5.58	0.84498	.	0.048348	0.85682	D	0.000000	T	0.54431	0.1858	L	0.49778	1.585	0.80722	D	1	P;P	0.39352	0.669;0.64	P;B	0.46419	0.516;0.38	T	0.44003	-0.9356	9	.	.	.	-14.9036	19.922	0.97089	0.0:1.0:0.0:0.0	.	195;174	B4E2N0;Q8WZA0	.;LZIC_HUMAN	V	174;174;195;174	ENSP00000366430:G174V;ENSP00000383695:G174V;ENSP00000437432:G195V;ENSP00000366418:G174V	.	G	-	2	0	LZIC	9913096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.848000	0.62874	2.780000	0.95670	0.655000	0.94253	GGA		0.313	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	NM_032368		34	869	1	0	4.3181e-19	1	4.80867e-19	34	869				
FLNB	2317	broad.mit.edu	37	3	58084521	58084521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58084521A>G	ENST00000295956.4	+	8	1396	c.1231A>G	c.(1231-1233)Aac>Gac	p.N411D	FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000490882.1_Missense_Mutation_p.N411D|FLNB_ENST00000348383.5_Missense_Mutation_p.N411D|FLNB_ENST00000358537.3_Missense_Mutation_p.N411D|FLNB_ENST00000357272.4_Missense_Mutation_p.N411D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	411					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACAAAGGAAACCAGGTGTA	0.522																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(1231-1233)Aac>Gac		filamin B, beta							272.0	229.0	243.0					3																	58084521		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58084521A>G	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1231A>G	3.37:g.58084521A>G	ENSP00000295956:p.Asn411Asp					FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000295956.4_Missense_Mutation_p.N411D|FLNB_ENST00000348383.5_Missense_Mutation_p.N411D|FLNB_ENST00000358537.3_Missense_Mutation_p.N411D|FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000490882.1_Missense_Mutation_p.N411D	p.N411D			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	8	1396	+			411					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.1231A>G	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	4.688	0.127874	0.08981	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;T;T;D;D;D;T;D	0.89196	-2.48;0.31;0.31;-2.48;-2.48;-2.48;0.31;-2.48	5.28	4.09	0.47781	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.171248	0.64402	D	0.000006	T	0.68559	0.3014	N	0.01431	-0.87	0.40536	D	0.980972	B;B;B;B;B;B	0.16603	0.001;0.001;0.018;0.0;0.003;0.008	B;B;B;B;B;B	0.20184	0.008;0.013;0.028;0.008;0.013;0.02	T	0.64630	-0.6362	10	0.02654	T	1	.	11.6375	0.51213	0.8666:0.0:0.0:0.1334	.	411;411;242;242;411;411	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	D	411;411;411;411;411;411;242;242	ENSP00000295956:N411D;ENSP00000420213:N411D;ENSP00000351339:N411D;ENSP00000415599:N411D;ENSP00000232447:N411D;ENSP00000349819:N411D;ENSP00000418510:N242D;ENSP00000414532:N242D	ENSP00000295956:N411D	N	+	1	0	FLNB	58059561	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.523000	0.53488	0.917000	0.36895	0.459000	0.35465	AAC		0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		13	466	0	0	0	1	0	13	466				
GPLD1	2822	broad.mit.edu	37	6	24429337	24429337	+	Missense_Mutation	SNP	C	C	T	rs370617124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24429337C>T	ENST00000230036.1	-	25	2556	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	816					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCAGCAATGACGACTTGGTTC	0.468																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(2446-2448)Gtc>Atc		glycosylphosphatidylinositol specific phospholipase D1							83.0	70.0	75.0					6																	24429337		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24429337C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2446G>A	6.37:g.24429337C>T	ENSP00000230036:p.Val816Ile						p.V816I	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			25	2556	-			816					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.2446G>A	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850426	0.17034	.	.	ENSG00000112293	ENST00000230036	T	0.69040	-0.37	5.29	4.42	0.53409	.	0.086699	0.48767	N	0.000172	T	0.32526	0.0832	L	0.36672	1.1	0.80722	D	1	B	0.26708	0.157	B	0.15052	0.012	T	0.26744	-1.0094	10	0.08179	T	0.78	-25.2769	12.953	0.58411	0.0:0.9208:0.0:0.0792	.	816	P80108	PHLD_HUMAN	I	816	ENSP00000230036:V816I	ENSP00000230036:V816I	V	-	1	0	GPLD1	24537316	0.998000	0.40836	0.947000	0.38551	0.058000	0.15608	2.947000	0.49058	1.460000	0.47911	0.655000	0.94253	GTC		0.468	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		26	149	0	0	0	1	0	26	149				
INSC	387755	broad.mit.edu	37	11	15260581	15260581	+	Nonsense_Mutation	SNP	C	C	T	rs371748746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15260581C>T	ENST00000379554.3	+	11	1541	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Nonsense_Mutation_p.R452*|INSC_ENST00000530161.1_Nonsense_Mutation_p.R452*|INSC_ENST00000424273.1_Nonsense_Mutation_p.R410*|INSC_ENST00000379556.3_Nonsense_Mutation_p.R452*|INSC_ENST00000525218.1_Nonsense_Mutation_p.R410*	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	499					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGTCTCAGCCGAGACCCAGA	0.622																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1495-1497)Cga>Tga		inscuteable homolog (Drosophila)		C	stop/ARG,stop/ARG	0,4170		0,0,2085	49.0	51.0	50.0		1495,1354	3.7	1.0	11		50	1,8403		0,1,4201	no	stop-gained,stop-gained	INSC	NM_001031853.3,NM_001042536.1	,	0,1,6286	TT,TC,CC		0.0119,0.0,0.0080	,	499/580,452/533	15260581	1,12573	2085	4202	6287	SO:0001587	stop_gained	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260581C>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1495C>T	11.37:g.15260581C>T	ENSP00000368872:p.Arg499*					INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Nonsense_Mutation_p.R410*|INSC_ENST00000530161.1_Nonsense_Mutation_p.R452*|INSC_ENST00000528567.1_Nonsense_Mutation_p.R452*|INSC_ENST00000379556.3_Nonsense_Mutation_p.R452*|INSC_ENST00000525218.1_Nonsense_Mutation_p.R410*	p.R499*	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			11	1541	+			499					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Nonsense_Mutation	SNP	ENST00000379554.3	37	c.1495C>T	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	C	39	7.386667	0.98252	0.0	1.19E-4	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	.	.	.	5.66	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.805	14.5598	0.68128	0.2676:0.7324:0.0:0.0	.	.	.	.	X	499;452;410;452;452;410	.	ENSP00000368872:R499X	R	+	1	2	INSC	15217157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.252000	0.32874	0.684000	0.31448	0.655000	0.94253	CGA		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		7	229	0	0	0	1	0	7	229				
SLC25A28	81894	broad.mit.edu	37	10	101370678	101370678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101370678G>A	ENST00000370495.4	-	4	1051	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	SLC25A28_ENST00000496035.1_5'Flank	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	341					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGACCATGCGATGGCTGTGG	0.512																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(1021-1023)atC>atT		solute carrier family 25 (mitochondrial iron transporter), member 28							114.0	111.0	112.0					10																	101370678		1936	4127	6063	SO:0001819	synonymous_variant	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101370678G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.1023C>T	10.37:g.101370678G>A							p.I341I	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	1051	-		Colorectal(252;0.234)	341					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	37	c.1023C>T	CCDS41559.1																																																																																				0.512	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		48	415	0	0	0	1	0	48	415				
HMCN1	83872	broad.mit.edu	37	1	185894259	185894259	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185894259C>A	ENST00000271588.4	+	9	1595	c.1366C>A	c.(1366-1368)Ctt>Att	p.L456I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	456	Ig-like C2-type 1.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTGACAGTCTTTTGCCCTT	0.423																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1366-1368)Ctt>Att		hemicentin 1							153.0	134.0	140.0					1																	185894259		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185894259C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1366C>A	1.37:g.185894259C>A	ENSP00000271588:p.Leu456Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	p.L456I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			9	1595	+			456			Ig-like C2-type 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1366C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009139	0.54361	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39056	1.1;1.1	5.89	3.01	0.34805	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129749	0.53938	D	0.000058	T	0.33469	0.0864	L	0.50333	1.59	0.42086	D	0.99127	P	0.41393	0.748	B	0.37346	0.247	T	0.05533	-1.0879	10	0.20519	T	0.43	.	11.5853	0.50914	0.0:0.8074:0.0:0.1926	.	456	Q96RW7	HMCN1_HUMAN	I	456	ENSP00000271588:L456I;ENSP00000356462:L456I	ENSP00000271588:L456I	L	+	1	0	HMCN1	184160882	0.998000	0.40836	0.962000	0.40283	0.993000	0.82548	0.894000	0.28350	0.396000	0.25283	0.655000	0.94253	CTT		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		22	289	1	0	2.89027e-11	1	3.08062e-11	22	289				
ATRIP	84126	broad.mit.edu	37	3	48506304	48506304	+	Silent	SNP	C	C	T	rs3135938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48506304C>T	ENST00000320211.3	+	12	2243	c.2130C>T	c.(2128-2130)acC>acT	p.T710T	TREX1_ENST00000436480.2_5'Flank|ATRIP_ENST00000346691.4_Silent_p.T683T|ATRIP_ENST00000412052.1_Silent_p.T617T|ATRIP_ENST00000357105.6_Silent_p.T583T|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000422277.2_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	710					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCAAGGACCGACCAGCAGA	0.642								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0008	0.0	5008	,	,		20691	0.0		0.0	False		,,,				2504	0.0					ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1849-1851)acC>acT	Other conserved DNA damage response genes	ATR interacting protein							57.0	51.0	53.0					3																	48506304		2203	4300	6503	SO:0001819	synonymous_variant	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48506304C>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2130C>T	3.37:g.48506304C>T						ATRIP_ENST00000346691.4_Silent_p.T683T|ATRIP_ENST00000320211.3_Silent_p.T710T|ATRIP_ENST00000357105.6_Silent_p.T583T	p.T617T	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	2313	+			710					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Silent	SNP	ENST00000320211.3	37	c.1851C>T	CCDS2768.1																																																																																				0.642	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		42	181	0	0	0	1	0	42	181				
MAFF	23764	broad.mit.edu	37	22	38610487	38610487	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610487T>C	ENST00000338483.2	+	3	459	c.97T>C	c.(97-99)Tcg>Ccg	p.S33P	MAFF_ENST00000538320.1_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000426621.2_Missense_Mutation_p.S33P|MAFF_ENST00000407965.1_Missense_Mutation_p.S33P			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	33					blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					GATGGGGCTGTCGGTGCGCGA	0.672																																						ENST00000338483.2																			0				lung(2)|skin(1)	3						c.(97-99)Tcg>Ccg		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F							18.0	19.0	19.0					22																	38610487		2142	4215	6357	SO:0001583	missense	23764				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:38610487T>C	AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.97T>C	22.37:g.38610487T>C	ENSP00000345393:p.Ser33Pro					MAFF_ENST00000538320.1_Missense_Mutation_p.S33P|MAFF_ENST00000407965.1_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000426621.2_Missense_Mutation_p.S33P	p.S33P			Q9ULX9	MAFF_HUMAN			3	459	+	Melanoma(58;0.045)		33					B4DV49|Q9Y525	Missense_Mutation	SNP	ENST00000338483.2	37	c.97T>C	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644350	0.87859	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	3.92	3.92	0.45320	Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.077114	0.53938	D	0.000044	D	0.95127	0.8421	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93992	0.7268	10	0.32370	T	0.25	-5.0985	12.7691	0.57410	0.0:0.0:0.0:1.0	.	33	Q9ULX9	MAFF_HUMAN	P	33;33;4;4;33;33;33	ENSP00000345393:S33P;ENSP00000442060:S33P;ENSP00000441482:S4P;ENSP00000391589:S4P;ENSP00000416493:S33P;ENSP00000388882:S33P;ENSP00000384094:S33P	ENSP00000345393:S33P	S	+	1	0	MAFF	36940433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.154000	0.71826	1.404000	0.46819	0.374000	0.22700	TCG		0.672	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	NM_001161572		19	165	0	0	0	1	0	19	165				
MAN2C1	4123	broad.mit.edu	37	15	75653521	75653521	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75653521G>A	ENST00000267978.5	-	12	1372	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	MAN2C1_ENST00000563622.1_Silent_p.T343T|MAN2C1_ENST00000569482.1_Silent_p.T442T|MAN2C1_ENST00000565683.1_Silent_p.T442T|MAN2C1_ENST00000563539.1_5'Flank	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	442					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTGGCCACGGTCTTCAGCA	0.657																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1324-1326)acC>acT		mannosidase, alpha, class 2C, member 1							58.0	57.0	57.0					15																	75653521		2197	4293	6490	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75653521G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1326C>T	15.37:g.75653521G>A						MAN2C1_ENST00000569482.1_Silent_p.T442T|MAN2C1_ENST00000563622.1_Silent_p.T343T|MAN2C1_ENST00000267978.5_Silent_p.T442T	p.T442T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			12	1337	-			442					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.1326C>T	CCDS32298.1																																																																																				0.657	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			13	87	0	0	0	1	0	13	87				
TFAP2A	7020	broad.mit.edu	37	6	10419699	10419699	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10419699C>A	ENST00000319516.4	-	0	172					NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)						anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|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 neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CTCTGCGCTCCTGGCGACTGG	0.632																																						ENST00000319516.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13								transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							56.0	64.0	61.0					6																	10419699		1961	4123	6084			7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10419699C>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000319516.4:c.-16G>T	6.37:g.10419699C>A								NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN			0	172	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)						Q13777|Q5TAV5|Q8N1C6	Translation_Start_Site	SNP	ENST00000319516.4	37		CCDS43422.1																																																																																				0.632	TFAP2A-003	KNOWN	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039817.2	NM_003220		33	428	1	0	6.2361e-21	1	7.00342e-21	33	428				
SMC2	10592	broad.mit.edu	37	9	106860764	106860764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106860764G>A	ENST00000286398.7	+	4	644	c.356G>A	c.(355-357)gGa>gAa	p.G119E	SMC2_ENST00000374793.3_Missense_Mutation_p.G119E|SMC2_ENST00000303219.8_Missense_Mutation_p.G119E|SMC2_ENST00000374787.3_Missense_Mutation_p.G119E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	119					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTAATCAATGGAGTCAATGCC	0.353																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(355-357)gGa>gAa		structural maintenance of chromosomes 2							160.0	154.0	156.0					9																	106860764		2203	4299	6502	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106860764G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.356G>A	9.37:g.106860764G>A	ENSP00000286398:p.Gly119Glu					SMC2_ENST00000303219.8_Missense_Mutation_p.G119E|SMC2_ENST00000374787.3_Missense_Mutation_p.G119E|SMC2_ENST00000374793.3_Missense_Mutation_p.G119E	p.G119E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			4	644	+			119					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.356G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039267	0.93630	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.42732	-0.9434	10	0.87932	D	0	-24.1498	18.9014	0.92444	0.0:0.0:1.0:0.0	.	119;119;119	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	E	119	ENSP00000286398:G119E;ENSP00000363925:G119E;ENSP00000306152:G119E;ENSP00000363919:G119E	ENSP00000286398:G119E	G	+	2	0	SMC2	105900585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.691000	0.98679	2.882000	0.98803	0.655000	0.94253	GGA		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			9	402	0	0	0	1	0	9	402				
HTT	3064	broad.mit.edu	37	4	3133503	3133503	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3133503G>A	ENST00000355072.5	+	16	2381		c.e16+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAATACCCTGGTATGTTAAAA	0.403																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.e16+1		huntingtin							75.0	72.0	73.0					4																	3133503		1851	4099	5950	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3133503G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2236+1G>A	4.37:g.3133503G>A								NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	16	2381	+		all_epithelial(65;0.18)						Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37		CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734557	0.30774	.	.	ENSG00000197386	ENST00000355072	.	.	.	4.98	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2134	0.59839	0.0767:0.0:0.9233:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3103301	1.000000	0.71417	0.841000	0.33234	0.231000	0.25187	7.012000	0.76366	1.331000	0.45412	0.591000	0.81541	.		0.403	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Intron	87	379	0	0	0	1	0	87	379				
OR2AG2	338755	broad.mit.edu	37	11	6790159	6790159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6790159G>A	ENST00000338569.2	-	1	127	c.30C>T	c.(28-30)agC>agT	p.S10S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S10S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGATGAAGCCGCTTCCCAAGG	0.443																																						ENST00000338569.2																			1	Substitution - coding silent(1)	p.S10S(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(28-30)agC>agT		olfactory receptor, family 2, subfamily AG, member 2							77.0	77.0	77.0					11																	6790159		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6790159G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.30C>T	11.37:g.6790159G>A							p.S10S	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	127	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	10						Silent	SNP	ENST00000338569.2	37	c.30C>T	CCDS31413.1																																																																																				0.443	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		13	269	0	0	0	1	0	13	269				
PRPF39	55015	broad.mit.edu	37	14	45571884	45571884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45571884G>T	ENST00000355765.6	+	5	892	c.722G>T	c.(721-723)aGt>aTt	p.S241I		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	241					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAGCTGTATAGTCATCATTTT	0.338																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(721-723)aGt>aTt		pre-mRNA processing factor 39							175.0	192.0	186.0					14																	45571884		2203	4300	6503	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45571884G>T	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.722G>T	14.37:g.45571884G>T	ENSP00000348010:p.Ser241Ile						p.S241I	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			5	892	+			241					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.722G>T	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912410	0.72983	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.34667	1.35	5.75	5.75	0.90469	.	0.086607	0.85682	D	0.000000	T	0.59459	0.2195	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.76494	0.989;0.999	D;D	0.67548	0.923;0.952	T	0.55457	-0.8138	10	0.44086	T	0.13	-5.6361	19.5493	0.95311	0.0:0.0:1.0:0.0	.	241;120	Q86UA1;F5H1P0	PRP39_HUMAN;.	I	241;120	ENSP00000348010:S241I	ENSP00000348010:S241I	S	+	2	0	PRPF39	44641634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.387000	0.79785	2.728000	0.93425	0.650000	0.86243	AGT		0.338	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			145	745	1	0	1.55176e-64	1	1.96059e-64	145	745				
CYP2A13	1553	broad.mit.edu	37	19	41600274	41600274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41600274C>T	ENST00000330436.3	+	7	1098	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	366					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GAGACATGCTCCCCATGGGTT	0.562																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1096-1098)ctC>ctT		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						125.0	113.0	117.0					19																	41600274		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41600274C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1098C>T	19.37:g.41600274C>T							p.L366L	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			7	1098	+			366					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.1098C>T	CCDS12571.1																																																																																				0.562	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		7	426	0	0	0	1	0	7	426				
PTPN23	25930	broad.mit.edu	37	3	47454517	47454517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454517C>A	ENST00000265562.4	+	25	4830	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1585					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTTGACCCCAGAGGCCTT	0.662																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4753-4755)Cca>Aca		protein tyrosine phosphatase, non-receptor type 23							19.0	22.0	21.0					3																	47454517		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47454517C>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4753C>A	3.37:g.47454517C>A	ENSP00000265562:p.Pro1585Thr					PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	p.P1585T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	25	4830	+			1585					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.4753C>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802228	0.50315	.	.	ENSG00000076201	ENST00000265562	T	0.08008	3.14	4.72	4.72	0.59763	.	0.080102	0.49916	D	0.000132	T	0.12944	0.0314	L	0.29908	0.895	0.44627	D	0.997603	D	0.60160	0.987	P	0.54544	0.755	T	0.01464	-1.1348	10	0.72032	D	0.01	-10.3634	12.3772	0.55287	0.0:0.8296:0.1704:0.0	.	1585	Q9H3S7	PTN23_HUMAN	T	1585	ENSP00000265562:P1585T	ENSP00000265562:P1585T	P	+	1	0	PTPN23	47429521	0.998000	0.40836	0.695000	0.30226	0.993000	0.82548	4.195000	0.58400	2.146000	0.66826	0.563000	0.77884	CCA		0.662	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		35	149	1	0	1.36161e-19	1	1.52027e-19	35	149				
RNASEH2B	79621	broad.mit.edu	37	13	51522132	51522132	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:51522132T>C	ENST00000336617.3	+	8	1025	c.626T>C	c.(625-627)aTt>aCt	p.I209T	RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	209					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GAGGATTATATTCGTTATGCC	0.303																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(625-627)aTt>aCt		ribonuclease H2, subunit B							137.0	146.0	143.0					13																	51522132		2203	4296	6499	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51522132T>C	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.626T>C	13.37:g.51522132T>C	ENSP00000337623:p.Ile209Thr					RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T|RNASEH2B_ENST00000495244.2_3'UTR	p.I209T	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	8	1025	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	209					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.626T>C	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384921	0.25031	.	.	ENSG00000136104	ENST00000336617;ENST00000539292;ENST00000422660	D;D	0.96619	-4.07;-4.07	5.77	5.77	0.91146	.	0.521832	0.22594	N	0.058050	D	0.89708	0.6793	N	0.08118	0	0.32135	N	0.586234	B;B	0.27380	0.177;0.01	B;B	0.23419	0.039;0.046	D	0.87590	0.2490	10	0.17832	T	0.49	-4.4388	13.4717	0.61285	0.0:0.0:0.0:1.0	.	209;209	G3XAJ1;Q5TBB1	.;RNH2B_HUMAN	T	209	ENSP00000337623:I209T;ENSP00000389877:I209T	ENSP00000337623:I209T	I	+	2	0	RNASEH2B	50420133	1.000000	0.71417	0.222000	0.23844	0.985000	0.73830	5.866000	0.69590	2.197000	0.70478	0.455000	0.32223	ATT		0.303	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		135	502	0	0	0	1	0	135	502				
DNAJC3	5611	broad.mit.edu	37	13	96409944	96409944	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96409944A>C	ENST00000602402.1	+	5	557	c.440A>C	c.(439-441)cAa>cCa	p.Q147P	DNAJC3_ENST00000376795.6_Intron	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	147					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GCACAGTCTCAACTTATAAAA	0.343																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(439-441)cAa>cCa		DnaJ (Hsp40) homolog, subfamily C, member 3							86.0	85.0	85.0					13																	96409944		2203	4300	6503	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96409944A>C	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.440A>C	13.37:g.96409944A>C	ENSP00000473631:p.Gln147Pro					DNAJC3_ENST00000376795.6_Intron	p.Q147P	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		5	557	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		147					Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.440A>C	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798940	0.70567	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.8	4.59	0.56863	Tetratricopeptide repeat-containing (1);	0.302554	0.36893	N	0.002357	T	0.67618	0.2912	M	0.65975	2.015	0.80722	D	1	P	0.50066	0.931	P	0.55615	0.78	T	0.69094	-0.5236	9	0.59425	D	0.04	-1.706	11.7769	0.51991	0.8532:0.1468:0.0:0.0	.	147	Q13217	DNJC3_HUMAN	P	147	.	ENSP00000365991:Q147P	Q	+	2	0	DNAJC3	95207945	1.000000	0.71417	0.605000	0.28930	0.960000	0.62799	6.778000	0.75043	0.982000	0.38575	0.482000	0.46254	CAA		0.343	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			48	211	0	0	0	1	0	48	211				
FASTK	10922	broad.mit.edu	37	7	150776915	150776915	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150776915C>T	ENST00000297532.6	-	2	254	c.177G>A	c.(175-177)caG>caA	p.Q59Q	FASTK_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000540185.1_Silent_p.Q25Q|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	59					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACAGCAGGGCTGTACTGGAG	0.637																																						ENST00000540185.1																			0				lung(4)|stomach(2)	6						c.(73-75)caG>caA		Fas-activated serine/threonine kinase							25.0	17.0	20.0					7																	150776915		2198	4298	6496	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776915C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.177G>A	7.37:g.150776915C>T						FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Silent_p.Q59Q	p.Q25Q			Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	2	679	-			59					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.75G>A	CCDS5918.1																																																																																				0.637	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		17	50	0	0	0	1	0	17	50				
HRNR	388697	broad.mit.edu	37	1	152188160	152188160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152188160G>T	ENST00000368801.2	-	3	6020	c.5945C>A	c.(5944-5946)tCt>tAt	p.S1982Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1982					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGGAGCCAGACTCATATGG	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5944-5946)tCt>tAt		hornerin							141.0	230.0	202.0					1																	152188160		1651	3515	5166	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188160G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5945C>A	1.37:g.152188160G>T	ENSP00000357791:p.Ser1982Tyr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1982Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6020	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1982					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5945C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	5.268	0.234831	0.09969	.	.	ENSG00000197915	ENST00000368801	T	0.03413	3.94	2.67	0.662	0.17880	.	.	.	.	.	T	0.01222	0.0040	L	0.50333	1.59	0.09310	N	1	B	0.28636	0.218	B	0.25759	0.063	T	0.45948	-0.9226	9	0.66056	D	0.02	.	3.2283	0.06740	0.1491:0.0:0.5937:0.2573	.	1982	Q86YZ3	HORN_HUMAN	Y	1982	ENSP00000357791:S1982Y	ENSP00000357791:S1982Y	S	-	2	0	HRNR	150454784	0.036000	0.19791	0.001000	0.08648	0.052000	0.14988	1.946000	0.40283	0.175000	0.19841	0.505000	0.49811	TCT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		57	2801	1	0	9.7654e-05	1	9.93505e-05	57	2801				
PIGZ	80235	broad.mit.edu	37	3	196678897	196678897	+	Silent	SNP	C	C	T	rs139328732	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196678897C>T	ENST00000412723.1	-	2	152	c.6G>A	c.(4-6)caG>caA	p.Q2Q	PIGZ_ENST00000443835.1_Silent_p.Q2Q	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	2					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATCCACAGATCTGCATCTGTT	0.418																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(4-6)caG>caA		phosphatidylinositol glycan anchor biosynthesis, class Z		C		0,4406		0,0,2203	71.0	62.0	65.0		6	2.8	0.0	3	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIGZ	NM_025163.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2/580	196678897	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196678897C>T	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.6G>A	3.37:g.196678897C>T						PIGZ_ENST00000443835.1_Silent_p.Q2Q	p.Q2Q	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	152	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		2					Q9H9G6	Silent	SNP	ENST00000412723.1	37	c.6G>A	CCDS3324.1																																																																																				0.418	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		26	92	0	0	0	1	0	26	92				
RTN2	6253	broad.mit.edu	37	19	45992145	45992145	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45992145C>T	ENST00000245923.4	-	7	1576	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	RTN2_ENST00000590526.1_Silent_p.R173R|RTN2_ENST00000430715.2_Silent_p.R107R|RTN2_ENST00000344680.4_Silent_p.R374R|PPM1N_ENST00000401705.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	447	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGAAGAAGTGCCGCAGCTGCG	0.637																																						ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(517-519)cgG>cgA		reticulon 2							26.0	24.0	25.0					19																	45992145		2203	4300	6503	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45992145C>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1341G>A	19.37:g.45992145C>T						PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000245923.4_Silent_p.R447R|RTN2_ENST00000430715.2_Silent_p.R107R|RTN2_ENST00000344680.4_Silent_p.R374R	p.R173R			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	7	1645	-		Ovarian(192;0.051)|all_neural(266;0.112)	447					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.519G>A	CCDS12665.1																																																																																				0.637	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		14	56	0	0	0	1	0	14	56				
ZFAND5	7763	broad.mit.edu	37	9	74971957	74971957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74971957C>A	ENST00000237937.3	-	5	940	c.383G>T	c.(382-384)aGt>aTt	p.S128I	ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I|ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	128					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AACTGATGGACTGGGCTGAGT	0.378																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(382-384)aGt>aTt		zinc finger, AN1-type domain 5							102.0	94.0	97.0					9																	74971957		2203	4299	6502	SO:0001583	missense	0						DNA binding|zinc ion binding	g.chr9:74971957C>A	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.383G>T	9.37:g.74971957C>A	ENSP00000237937:p.Ser128Ile					ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I|ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I	p.S128I	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			5	940	-			128					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.383G>T	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763741	0.49574	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.274244	0.46145	D	0.000312	T	0.51686	0.1689	N	0.20986	0.625	0.41066	D	0.985415	B	0.06786	0.001	B	0.06405	0.002	T	0.41770	-0.9490	9	0.46703	T	0.11	-10.2096	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	128	O76080	ZFAN5_HUMAN	I	128;128;128;128;180	.	ENSP00000237937:S128I	S	-	2	0	ZFAND5	74161777	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.034000	0.64152	2.941000	0.99782	0.655000	0.94253	AGT		0.378	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			48	185	1	0	1.63038e-21	1	1.83746e-21	48	185				
PALB2	79728	broad.mit.edu	37	16	23646945	23646945	+	Missense_Mutation	SNP	C	C	T	rs202151522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23646945C>T	ENST00000261584.4	-	4	1074	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	308	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTACTTATAGCTTTATTTACA	0.353			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(922-924)Gct>Act	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							80.0	81.0	81.0					16																	23646945		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646945C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.922G>A	16.37:g.23646945C>T	ENSP00000261584:p.Ala308Thr						p.A308T	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1074	-			308			Interaction with BRCA1.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.922G>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202066	0.22121	.	.	ENSG00000083093	ENST00000261584	T	0.16457	2.34	6.07	-5.77	0.02369	.	1.442380	0.03986	N	0.294067	T	0.17916	0.0430	M	0.63428	1.95	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.39292	-0.9621	10	0.48119	T	0.1	0.8454	8.884	0.35392	0.0:0.3679:0.1007:0.5314	.	308	Q86YC2	PALB2_HUMAN	T	308	ENSP00000261584:A308T	ENSP00000261584:A308T	A	-	1	0	PALB2	23554446	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.694000	0.05115	-1.030000	0.03312	-0.136000	0.14681	GCT		0.353	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		106	496	0	0	0	1	0	106	496				
CADM1	23705	broad.mit.edu	37	11	115099861	115099861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115099861C>T	ENST00000452722.3	-	5	713	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000536727.1_Silent_p.L231L|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000542447.2_Silent_p.L231L	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTGGGTCTGCAGGTTTCCAG	0.512																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(691-693)ctG>ctA		cell adhesion molecule 1							81.0	64.0	70.0					11																	115099861		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115099861C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.693G>A	11.37:g.115099861C>T						CADM1_ENST00000452722.2_Silent_p.L231L|CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000536727.1_Silent_p.L231L	p.L231L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	5	821	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	231			Ig-like C2-type 1.			Silent	SNP	ENST00000452722.3	37	c.693G>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347509	0.24426	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62358	-0.6871	4	.	.	.	.	11.4478	0.50134	0.0:0.8637:0.0:0.1363	.	.	.	.	T	230	.	.	A	-	1	0	CADM1	114605071	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.673000	0.46858	1.627000	0.50400	0.655000	0.94253	GCA		0.512	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		37	186	0	0	0	1	0	37	186				
DNAH1	25981	broad.mit.edu	37	3	52418934	52418934	+	Missense_Mutation	SNP	G	G	A	rs372068387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52418934G>A	ENST00000420323.2	+	53	8716	c.8455G>A	c.(8455-8457)Ggg>Agg	p.G2819R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2819	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCTCATCGGGCAGAAGAA	0.567											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8455-8457)Ggg>Agg		dynein, axonemal, heavy chain 1		G	ARG/GLY	0,4082		0,0,2041	41.0	43.0	42.0		8455	4.4	1.0	3		42	1,8375		0,1,4187	no	missense	DNAH1	NM_015512.4	125	0,1,6228	AA,AG,GG		0.0119,0.0,0.0080	benign	2819/4266	52418934	1,12457	2041	4188	6229	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52418934G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8455G>A	3.37:g.52418934G>A	ENSP00000401514:p.Gly2819Arg		OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	984		p.G2819R	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	53	8716	+			2819			Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8455G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305031	0.40795	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.42131	0.98	4.38	4.38	0.52667	.	0.122893	0.36740	N	0.002422	T	0.37461	0.1004	L	0.50919	1.6	0.52099	D	0.99994	B	0.25772	0.134	B	0.16722	0.016	T	0.19095	-1.0316	10	0.20519	T	0.43	.	17.1091	0.86670	0.0:0.0:1.0:0.0	.	2819	C9JXH6	.	R	2819	ENSP00000401514:G2819R	ENSP00000401514:G2819R	G	+	1	0	DNAH1	52393974	1.000000	0.71417	0.984000	0.44739	0.950000	0.60333	5.038000	0.64177	2.287000	0.76781	0.561000	0.74099	GGG		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		23	107	0	0	0	1	0	23	107				
POT1	25913	broad.mit.edu	37	7	124483018	124483018	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124483018C>A	ENST00000357628.3	-	13	1605		c.e13-1		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1						DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGTAAGTACTGTAAAGAAT	0.318																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.e13-1		protection of telomeres 1							70.0	63.0	66.0					7																	124483018		2203	4300	6503	SO:0001630	splice_region_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124483018C>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1007-1G>T	7.37:g.124483018C>A						POT1_ENST00000393329.1_Splice_Site		NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			13	1605	-								O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Splice_Site	SNP	ENST00000357628.3	37		CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863051	0.51482	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.207	0.89858	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POT1	124270254	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	5.582000	0.67477	2.641000	0.89580	0.591000	0.81541	.		0.318	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		Intron	20	89	1	0	2.39187e-15	1	2.61288e-15	20	89				
MIA3	375056	broad.mit.edu	37	1	222818937	222818937	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222818937T>C	ENST00000344922.5	+	7	3544	c.3519T>C	c.(3517-3519)gaT>gaC	p.D1173D	MIA3_ENST00000340535.7_Silent_p.D51D|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1173					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTGGGCCTGATTTTTATGGAC	0.378																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(3517-3519)gaT>gaC		melanoma inhibitory activity family, member 3							222.0	194.0	203.0					1																	222818937		1893	4107	6000	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222818937T>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3519T>C	1.37:g.222818937T>C						MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000340535.7_Silent_p.D51D|MIA3_ENST00000470521.1_3'UTR	p.D1173D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	7	3544	+			1173					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.3519T>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260406	0.23051	.	.	ENSG00000154305	ENST00000354906	.	.	.	5.99	0.951	0.19579	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38802	-0.9644	4	.	.	.	.	6.0638	0.19852	0.0:0.2641:0.1497:0.5862	.	.	.	.	L	756	.	.	F	+	1	0	MIA3	220885560	0.992000	0.36948	0.723000	0.30687	0.984000	0.73092	0.092000	0.15066	-0.089000	0.12484	0.482000	0.46254	TTT		0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		48	97	0	0	0	1	0	48	97				
SLCO2A1	6578	broad.mit.edu	37	3	133674026	133674026	+	Missense_Mutation	SNP	G	G	A	rs201131796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133674026G>A	ENST00000310926.4	-	4	682	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	SLCO2A1_ENST00000493729.1_Intron|SLCO2A1_ENST00000478651.1_5'Flank	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	137					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GCCTGCAAGCGGCTGTTGTTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.0		0.001	False		,,,				2504	0.0					ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(409-411)Cgc>Tgc		solute carrier organic anion transporter family, member 2A1							42.0	42.0	42.0					3																	133674026		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133674026G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.409C>T	3.37:g.133674026G>A	ENSP00000311291:p.Arg137Cys					SLCO2A1_ENST00000493729.1_Intron	p.R137C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			4	682	-			137					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.409C>T	CCDS3084.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.88	1.770573	0.31320	.	.	ENSG00000174640	ENST00000310926	T	0.39997	1.05	5.5	-1.39	0.08997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.303740	0.01346	N	0.011720	T	0.24122	0.0584	N	0.02539	-0.55	0.24042	N	0.996072	P	0.52170	0.951	P	0.47645	0.553	T	0.07751	-1.0756	10	0.56958	D	0.05	.	4.404	0.11400	0.0672:0.2301:0.3555:0.3473	.	137	Q92959	SO2A1_HUMAN	C	137	ENSP00000311291:R137C	ENSP00000311291:R137C	R	-	1	0	SLCO2A1	135156716	0.022000	0.18835	0.035000	0.18076	0.028000	0.11728	0.087000	0.14958	-0.253000	0.09514	-0.502000	0.04539	CGC		0.632	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		42	161	0	0	0	1	0	42	161				
TACC1	6867	broad.mit.edu	37	8	38678031	38678031	+	Silent	SNP	C	C	T	rs374553789		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38678031C>T	ENST00000317827.4	+	3	1648	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	TACC1_ENST00000520973.1_Silent_p.D228D|TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Silent_p.D423D|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	423	Interaction with YEATS4.|SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATAACTTTGACGAATCCATGG	0.473																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(1267-1269)gaC>gaT		transforming, acidic coiled-coil containing protein 1		C	,,	0,4406		0,0,2203	158.0	171.0	166.0		,684,1269	-6.1	0.3	8		166	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	TACC1	NM_001122824.1,NM_001146216.2,NM_006283.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,228/611,423/806	38678031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38678031C>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1269C>T	8.37:g.38678031C>T						TACC1_ENST00000520973.1_Silent_p.D228D|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000317827.4_Silent_p.D423D|TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron	p.D423D			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	1648	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	423			Interaction with YEATS4.|SPAZ 2.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.1269C>T	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	7.181	0.589634	0.13812	0.0	1.16E-4	ENSG00000147526	ENST00000521866;ENST00000518809	.	.	.	5.69	-6.11	0.02131	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55431	-0.8142	4	.	.	.	-10.6288	10.8991	0.47040	0.0:0.233:0.0937:0.6733	.	.	.	.	M	198;61	.	.	T	+	2	0	TACC1	38797188	0.101000	0.21875	0.274000	0.24659	0.684000	0.39900	-0.691000	0.05133	-1.564000	0.01678	-0.768000	0.03414	ACG		0.473	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		186	918	0	0	0	1	0	186	918				
PFKFB3	5209	broad.mit.edu	37	10	6274895	6274895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6274895G>T	ENST00000379775.4	+	15	1883	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M	PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M|PFKFB3_ENST00000360521.2_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	518	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACTCCTCCAGGAAACACTGA	0.517																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1552-1554)aGg>aTg		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							154.0	154.0	154.0					10																	6274895		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6274895G>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1553G>T	10.37:g.6274895G>T	ENSP00000369100:p.Arg518Met					PFKFB3_ENST00000360521.2_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M	p.R518M	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			15	1883	+			518			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.1553G>T	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.032|6.032	0.374222|0.374222	0.11409|0.11409	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000450232|ENST00000379789;ENST00000379784;ENST00000540253;ENST00000379775;ENST00000441697	.|.	.|.	.|.	4.95|4.95	3.07|3.07	0.35406|0.35406	.|.	.|.	.|.	.|.	.|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B;B	.|0.28512	.|0.214;0.07;0.025	.|B;B;B	.|0.28784	.|0.094;0.058;0.058	T|T	0.19289|0.19289	-1.0310|-1.0310	5|8	.|0.72032	.|D	.|0.01	.|.	6.9535|6.9535	0.24558|0.24558	0.2159:0.0:0.7841:0.0|0.2159:0.0:0.7841:0.0	.|.	.|532;518;498	.|B7Z955;Q16875;Q5VX15	.|.;F263_HUMAN;.	H|M	140|498;186;532;518;29	.|.	.|ENSP00000369100:R518M	Q|R	+|+	3|2	2|0	PFKFB3|PFKFB3	6314901|6314901	0.900000|0.900000	0.30661|0.30661	0.009000|0.009000	0.14445|0.14445	0.074000|0.074000	0.17049|0.17049	1.467000|1.467000	0.35321|0.35321	0.492000|0.492000	0.27815|0.27815	0.561000|0.561000	0.74099|0.74099	CAG|AGG		0.517	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			25	714	1	0	3.01185e-09	1	3.16585e-09	25	714				
FLII	2314	broad.mit.edu	37	17	18149700	18149700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18149700C>T	ENST00000327031.4	-	24	3353	c.3128G>A	c.(3127-3129)gGc>gAc	p.G1043D	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000545457.2_Missense_Mutation_p.G988D|FLII_ENST00000379450.4_Missense_Mutation_p.G957D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1043					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CTTCCTCTTGCCCCGGTGGAT	0.637																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3127-3129)gGc>gAc		flightless I homolog (Drosophila)							145.0	142.0	143.0					17																	18149700		2203	4299	6502	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149700C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3128G>A	17.37:g.18149700C>T	ENSP00000324573:p.Gly1043Asp					FLII_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.G988D|FLII_ENST00000379450.4_Missense_Mutation_p.G957D	p.G1043D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			24	3353	-	all_neural(463;0.228)		1043					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3128G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962362	0.92791	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.24350	1.86;1.86	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.996;0.998;0.989	T	0.64110	-0.6484	10	0.72032	D	0.01	-30.6298	19.4312	0.94768	0.0:1.0:0.0:0.0	.	957;957;1043;1012	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	D	1043;922;957	ENSP00000324573:G1043D;ENSP00000368763:G957D	ENSP00000324573:G1043D	G	-	2	0	FLII	18090425	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.116000	0.77119	2.601000	0.87937	0.643000	0.83706	GGC		0.637	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		180	794	0	0	0	1	0	180	794				
CHD8	57680	broad.mit.edu	37	14	21861744	21861744	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21861744G>A	ENST00000557364.1	-	32	6473	c.6210C>T	c.(6208-6210)gaC>gaT	p.D2070D	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Silent_p.D1791D|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Silent_p.D2070D			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2070	Ser-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCAGCTCAGAGTCCGAATCAT	0.522																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6208-6210)gaC>gaT		chromodomain helicase DNA binding protein 8							43.0	45.0	44.0					14																	21861744		2086	4216	6302	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861744G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6210C>T	14.37:g.21861744G>A						CHD8_ENST00000557364.1_Silent_p.D2070D|CHD8_ENST00000430710.3_Silent_p.D1791D	p.D2070D	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6274	-	all_cancers(95;0.00121)		2070			Ser-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.6210C>T	CCDS53885.1																																																																																				0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		11	87	0	0	0	1	0	11	87				
ODF2	4957	broad.mit.edu	37	9	131254790	131254790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131254790G>A	ENST00000434106.3	+	15	1985	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000604420.1_Missense_Mutation_p.G541E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E|ODF2_ENST00000393527.3_Missense_Mutation_p.G517E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	541					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACTATGAGGGGATGATTGAC	0.587																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1549-1551)gGg>gAg		outer dense fiber of sperm tails 2							82.0	81.0	81.0					9																	131254790		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131254790G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1622G>A	9.37:g.131254790G>A	ENSP00000403453:p.Gly541Glu					ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000372796.4_Missense_Mutation_p.G541E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E|ODF2_ENST00000434106.2_Missense_Mutation_p.G541E|ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E	p.G517E	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			17	2135	+			541					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1550G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274820	0.59649	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.80653	1.07;-1.4;1.07;1.07;1.98;-1.4;1.07;1.07	6.07	6.07	0.98685	.	0.088091	0.85682	D	0.000000	T	0.69124	0.3076	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.28783	0.222;0.016;0.222;0.028;0.139;0.222;0.035;0.028	B;B;B;B;B;B;B;B	0.20955	0.031;0.015;0.031;0.015;0.031;0.031;0.032;0.015	T	0.64037	-0.6501	10	0.18710	T	0.47	-33.0468	13.0706	0.59059	0.0756:0.0:0.9244:0.0	.	522;536;460;475;541;522;541;517	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	E	541;585;536;541;517;460;522;522	ENSP00000377166:G541E;ENSP00000361901:G585E;ENSP00000342581:G536E;ENSP00000361882:G541E;ENSP00000307781:G517E;ENSP00000396687:G460E;ENSP00000437579:G522E;ENSP00000361877:G522E	ENSP00000307781:G517E	G	+	2	0	ODF2	130294611	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.112000	0.50368	2.884000	0.98904	0.655000	0.94253	GGG		0.587	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			36	184	0	0	0	1	0	36	184				
PLEKHG1	57480	broad.mit.edu	37	6	151144795	151144795	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151144795G>T	ENST00000358517.2	+	14	1664	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A485S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	485							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTCAGAAACAGCACAAGACAT	0.338																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1453-1455)Gca>Tca		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							88.0	86.0	87.0					6																	151144795		2202	4299	6501	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151144795G>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1453G>T	6.37:g.151144795G>T	ENSP00000351318:p.Ala485Ser					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A485S	p.A485S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	15	1765	+			485					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1453G>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	4.945	0.175556	0.09391	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58506	0.33;0.33	5.42	-4.03	0.04021	.	1.159500	0.06084	N	0.662442	T	0.06371	0.0164	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.009	B;B;B	0.12156	0.002;0.007;0.007	T	0.11966	-1.0566	10	0.10111	T	0.7	.	5.5225	0.16941	0.4835:0.0:0.3012:0.2153	.	292;485;485	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	S	485	ENSP00000356297:A485S;ENSP00000351318:A485S	ENSP00000351318:A485S	A	+	1	0	PLEKHG1	151186488	0.000000	0.05858	0.046000	0.18839	0.959000	0.62525	-0.132000	0.10467	-0.714000	0.04975	-0.140000	0.14226	GCA		0.338	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			30	162	1	0	8.16721e-17	1	8.9905e-17	30	162				
TRPV2	51393	broad.mit.edu	37	17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T	rs373733043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	RP11-138I1.2_ENST00000580996.1_RNA|TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19562	0.0		0.0	False		,,,				2504	0.001					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(181-183)Cga>Tga		transient receptor potential cation channel, subfamily V, member 2		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	33.0	32.0	32.0		181	-2.2	0.0	17		32	0,8600		0,0,4300	no	stop-gained	TRPV2	NM_016113.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		61/765	16321163	1,13005	2203	4300	6503	SO:0001587	stop_gained	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321163C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.181C>T	17.37:g.16321163C>T	ENSP00000342222:p.Arg61*					TRPV2_ENST00000577397.1_5'UTR	p.R61*	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	580	+			61			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	ENST00000338560.7	37	c.181C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001196	0.97189	2.27E-4	0.0	ENSG00000187688	ENST00000338560	.	.	.	5.39	-2.24	0.06909	.	1.424990	0.04676	N	0.411446	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.9845	6.2534	0.20859	0.4311:0.4048:0.0989:0.0652	.	.	.	.	X	61	.	ENSP00000342222:R61X	R	+	1	2	TRPV2	16261888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.436000	0.06922	-0.909000	0.03852	-2.039000	0.00418	CGA		0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		23	156	0	0	0	1	0	23	156				
GJA3	2700	broad.mit.edu	37	13	20717142	20717142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20717142C>T	ENST00000241125.3	-	2	462	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	96					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		ATGTGCAGCACGTGGCCCAGG	0.607																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(286-288)Gtg>Atg		gap junction protein, alpha 3, 46kDa							62.0	56.0	58.0					13																	20717142		2203	4300	6503	SO:0001583	missense	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20717142C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.286G>A	13.37:g.20717142C>T	ENSP00000241125:p.Val96Met						p.V96M	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	462	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	96					Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	c.286G>A	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848041	0.91277	.	.	ENSG00000121743	ENST00000241125	D	0.99239	-5.61	5.36	5.36	0.76844	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99115	0.9695	L	0.59912	1.85	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	D	0.99879	1.1110	10	0.72032	D	0.01	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	96	Q9Y6H8	CXA3_HUMAN	M	96	ENSP00000241125:V96M	ENSP00000241125:V96M	V	-	1	0	GJA3	19615142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.837000	0.62796	2.517000	0.84864	0.561000	0.74099	GTG		0.607	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		10	76	0	0	0	1	0	10	76				
NABP2	79035	broad.mit.edu	37	12	56620171	56620171	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56620171A>G	ENST00000380198.2	+	5	902	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	NABP2_ENST00000267023.4_Missense_Mutation_p.Q135R|NABP2_ENST00000341463.5_Missense_Mutation_p.Q135R			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	135					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCAGCTTCCCAGCCTACCACT	0.527																																						ENST00000380198.2																			0											c.(403-405)cAg>cGg		nucleic acid binding protein 2							197.0	157.0	171.0					12																	56620171		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56620171A>G	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.404A>G	12.37:g.56620171A>G	ENSP00000369545:p.Gln135Arg					NABP2_ENST00000267023.4_Missense_Mutation_p.Q135R|NABP2_ENST00000341463.5_Missense_Mutation_p.Q135R	p.Q135R							5	902	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.404A>G	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	A	7.689	0.690625	0.15039	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.23348	1.91;1.91;1.91	4.29	4.29	0.51040	.	0.000000	0.47455	D	0.000231	T	0.20292	0.0488	L	0.44542	1.39	0.28850	N	0.896116	B;B;B	0.19583	0.035;0.037;0.007	B;B;B	0.17979	0.02;0.009;0.008	T	0.10520	-1.0626	10	0.22109	T	0.4	-19.7457	10.1776	0.42948	1.0:0.0:0.0:0.0	.	135;135;135	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	R	135	ENSP00000267023:Q135R;ENSP00000369545:Q135R;ENSP00000368862:Q135R	ENSP00000267023:Q135R	Q	+	2	0	OBFC2B	54906438	0.823000	0.29233	0.907000	0.35723	0.167000	0.22549	1.810000	0.38932	1.736000	0.51660	0.370000	0.22315	CAG		0.527	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		87	501	0	0	0	1	0	87	501				
PRSS23	11098	broad.mit.edu	37	11	86519307	86519307	+	Missense_Mutation	SNP	G	G	A	rs149020963	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519307G>A	ENST00000280258.5	+	2	1047	c.622G>A	c.(622-624)Gac>Aac	p.D208N	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	208						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGGCCAACGACTCCACTTC	0.517																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(622-624)Gac>Aac		protease, serine, 23		G	ASN/ASP	0,4402		0,0,2201	38.0	36.0	37.0		622	-10.7	0.0	11	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRSS23	NM_007173.4	23	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	208/384	86519307	1,12999	2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519307G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.622G>A	11.37:g.86519307G>A	ENSP00000280258:p.Asp208Asn					PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N|PRSS23_ENST00000533902.2_Intron	p.D208N	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1047	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	208					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.622G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	7.306	0.614015	0.14066	0.0	1.16E-4	ENSG00000150687	ENST00000280258;ENST00000441050	D;D	0.88664	-2.41;-2.41	6.06	-10.7	0.00240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	1.727610	0.02331	N	0.073976	T	0.78259	0.4255	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62215	-0.6901	9	.	.	.	-0.1783	8.0381	0.30504	0.6445:0.1543:0.1236:0.0776	.	176;208	B4E2J3;O95084	.;PRS23_HUMAN	N	208;176	ENSP00000280258:D208N;ENSP00000393015:D176N	.	D	+	1	0	PRSS23	86196955	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-0.662000	0.05305	-2.173000	0.00773	-0.140000	0.14226	GAC		0.517	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		37	157	0	0	0	1	0	37	157				
PGC	5225	broad.mit.edu	37	6	41712141	41712141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41712141C>T	ENST00000373025.3	-	3	384	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	PGC_ENST00000425343.2_Missense_Mutation_p.A108T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	108					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.A108T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCACTGCAGGCCTGGCTCTGG	0.612																																						ENST00000373025.3																			1	Substitution - Missense(1)	p.A108T(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(322-324)Gcc>Acc		progastricsin (pepsinogen C)							60.0	62.0	61.0					6																	41712141		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41712141C>T		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.322G>A	6.37:g.41712141C>T	ENSP00000362116:p.Ala108Thr					PGC_ENST00000425343.2_Missense_Mutation_p.A108T	p.A108T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		3	384	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		108					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.322G>A	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821681	0.50633	.	.	ENSG00000096088	ENST00000373025;ENST00000425343	T;T	0.60672	0.17;0.17	4.65	3.79	0.43588	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.063203	0.64402	N	0.000010	T	0.72391	0.3454	M	0.88377	2.95	0.44175	D	0.996986	D	0.89917	1.0	D	0.79784	0.993	T	0.79014	-0.1976	10	0.87932	D	0	.	12.4447	0.55645	0.0:0.9174:0.0:0.0826	.	108	P20142	PEPC_HUMAN	T	108	ENSP00000362116:A108T;ENSP00000405094:A108T	ENSP00000362116:A108T	A	-	1	0	PGC	41820119	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	4.216000	0.58540	1.203000	0.43233	-0.225000	0.12378	GCC		0.612	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			83	444	0	0	0	1	0	83	444				
UBTF	7343	broad.mit.edu	37	17	42295570	42295570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42295570C>T	ENST00000302904.4	-	2	520	c.28G>A	c.(28-30)Gac>Aac	p.D10N	UBTF_ENST00000343638.5_Missense_Mutation_p.D10N|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|UBTF_ENST00000436088.1_Missense_Mutation_p.D10N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	10					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTTCCAGGTCTGTGGGGCAG	0.652											OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(28-30)Gac>Aac		upstream binding transcription factor, RNA polymerase I							65.0	71.0	69.0					17																	42295570		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42295570C>T	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.28G>A	17.37:g.42295570C>T	ENSP00000302640:p.Asp10Asn		OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	907	UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|UBTF_ENST00000436088.1_Missense_Mutation_p.D10N|UBTF_ENST00000343638.5_Missense_Mutation_p.D10N	p.D10N			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	2	520	-		Breast(137;0.00765)|Prostate(33;0.0181)	10					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.28G>A	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.150388	0.57151	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;T	0.98419	-4.8;-4.06;-4.92;-4.8;-4.06;-4.8;-4.8;-4.06;0.87	4.41	4.41	0.53225	.	0.401718	0.20201	U	0.097092	D	0.94588	0.8256	N	0.24115	0.695	0.26591	N	0.973195	B;B;B	0.29716	0.167;0.003;0.255	B;B;B	0.26614	0.045;0.003;0.071	D	0.90894	0.4763	10	0.66056	D	0.02	-26.5052	10.4813	0.44695	0.0:0.9094:0.0:0.0906	.	10;10;10	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	N	10	ENSP00000345297:D10N;ENSP00000302640:D10N;ENSP00000431539:D10N;ENSP00000437180:D10N;ENSP00000390669:D10N;ENSP00000377231:D10N;ENSP00000432925:D10N;ENSP00000435708:D10N;ENSP00000433046:D10N	ENSP00000302640:D10N	D	-	1	0	UBTF	39651096	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.537000	0.45702	2.301000	0.77427	0.561000	0.74099	GAC		0.652	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		100	524	0	0	0	1	0	100	524				
C17orf80	55028	broad.mit.edu	37	17	71232555	71232555	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232555A>G	ENST00000535032.2	+	2	1047	c.934A>G	c.(934-936)Aat>Gat	p.N312D	C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D|C17orf80_ENST00000359042.2_Missense_Mutation_p.N312D|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	312						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGCAAAGGAAATGCAGAGAA	0.443																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(934-936)Aat>Gat		chromosome 17 open reading frame 80							83.0	71.0	75.0					17																	71232555		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232555A>G	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.934A>G	17.37:g.71232555A>G	ENSP00000440551:p.Asn312Asp					C17orf80_ENST00000535032.2_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D|C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D	p.N312D	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	1128	+			312					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.934A>G	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513546	0.85389	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;D;T;T;D	0.84070	2.56;-1.8;2.56;2.75;-1.8	5.28	-0.487	0.12060	.	0.649385	0.14750	N	0.300635	D	0.83050	0.5170	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.76494	0.986;0.976;0.986;0.999	P;P;P;D	0.64321	0.844;0.722;0.844;0.924	T	0.70193	-0.4939	10	0.18710	T	0.47	-8.5098	2.3039	0.04169	0.4772:0.2917:0.0892:0.1418	.	312;312;312;312	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	D	312	ENSP00000255557:N312D;ENSP00000351937:N312D;ENSP00000268942:N312D;ENSP00000396970:N312D;ENSP00000440551:N312D	ENSP00000255557:N312D	N	+	1	0	C17orf80	68744150	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	0.729000	0.26028	0.004000	0.14682	0.459000	0.35465	AAT		0.443	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		34	177	0	0	0	1	0	34	177				
ZCCHC6	79670	broad.mit.edu	37	9	88958032	88958032	+	Missense_Mutation	SNP	G	G	C	rs199887046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88958032G>C	ENST00000375963.3	-	6	1216	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375948.1_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	348					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCGAATTTTTGAAACCCAATC	0.308													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13964	0.0		0.0	False		,,,				2504	0.0					ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1042-1044)ttC>ttG		zinc finger, CCHC domain containing 6							80.0	83.0	82.0					9																	88958032		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88958032G>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1044C>G	9.37:g.88958032G>C	ENSP00000365130:p.Phe348Leu					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375948.1_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000277141.6_5'UTR	p.F348L			Q5VYS8	TUT7_HUMAN			6	1258	-			348					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1044C>G	CCDS35057.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.31	2.495913	0.44352	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	D;D;D	0.81659	-1.52;-1.52;-1.52	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83995	0.5375	L	0.49640	1.575	0.41057	D	0.98534	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.996;0.996;0.997;0.994	T	0.79553	-0.1756	10	0.19147	T	0.46	-15.6626	10.941	0.47273	0.1505:0.0:0.8495:0.0	.	348;348;348;348	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	L	348	ENSP00000365127:F348L;ENSP00000365128:F348L;ENSP00000365130:F348L	ENSP00000365127:F348L	F	-	3	2	ZCCHC6	88147852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.177000	0.42509	0.720000	0.32209	0.650000	0.86243	TTC		0.308	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		44	299	0	0	0	1	0	44	299				
CCDC70	83446	broad.mit.edu	37	13	52439824	52439824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52439824G>T	ENST00000242819.4	+	2	606	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	104						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTGGAAAGAGGAAAAATCCTT	0.473																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(310-312)Gaa>Taa		coiled-coil domain containing 70							65.0	78.0	73.0					13																	52439824		2203	4298	6501	SO:0001587	stop_gained	83446					extracellular region|plasma membrane		g.chr13:52439824G>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.310G>T	13.37:g.52439824G>T	ENSP00000242819:p.Glu104*						p.E104*	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	606	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	104					Q8N7A8|Q9H097	Nonsense_Mutation	SNP	ENST00000242819.4	37	c.310G>T	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603293	0.46423	.	.	ENSG00000123171	ENST00000242819	.	.	.	5.83	-0.0301	0.13915	.	0.323654	0.26688	N	0.023011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-2.8378	5.4271	0.16431	0.4361:0.0:0.4358:0.1281	.	.	.	.	X	104	.	ENSP00000242819:E104X	E	+	1	0	CCDC70	51337825	0.962000	0.33011	0.000000	0.03702	0.000000	0.00434	1.555000	0.36277	-0.092000	0.12417	-0.768000	0.03414	GAA		0.473	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		56	565	1	0	3.21867e-24	1	3.67736e-24	56	565				
SRRM4	84530	broad.mit.edu	37	12	119568590	119568590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568590C>T	ENST00000267260.4	+	8	1110	c.722C>T	c.(721-723)cCg>cTg	p.P241L	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	241	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAGTCGCCCGCCCAGTCAA	0.647																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(721-723)cCg>cTg		serine/arginine repetitive matrix 4							24.0	30.0	28.0					12																	119568590		1940	4136	6076	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568590C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.722C>T	12.37:g.119568590C>T	ENSP00000267260:p.Pro241Leu					SRRM4_ENST00000537597.1_3'UTR	p.P241L	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1110	+			241			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.722C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	4.702	0.130604	0.08981	.	.	ENSG00000139767	ENST00000267260	T	0.21191	2.02	4.68	-1.97	0.07503	.	0.607362	0.17342	N	0.177731	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30179	-0.9987	10	0.11182	T	0.66	-0.0964	0.4273	0.00465	0.2622:0.2692:0.1288:0.3398	.	241	A7MD48	SRRM4_HUMAN	L	241	ENSP00000267260:P241L	ENSP00000267260:P241L	P	+	2	0	SRRM4	118052973	0.000000	0.05858	0.053000	0.19242	0.065000	0.16274	0.005000	0.13129	-0.299000	0.08909	-0.480000	0.04831	CCG		0.647	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		29	97	0	0	0	1	0	29	97				
CASP2	835	broad.mit.edu	37	7	143001775	143001775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143001775G>A	ENST00000310447.5	+	10	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	376					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGGGACTGCCGCCATGCGGAA	0.537																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1126-1128)Gcc>Acc		caspase 2, apoptosis-related cysteine peptidase							164.0	140.0	148.0					7																	143001775		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:143001775G>A	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1126G>A	7.37:g.143001775G>A	ENSP00000312664:p.Ala376Thr					CASP2_ENST00000493642.1_3'UTR	p.A376T	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			10	1367	+	Melanoma(164;0.059)		376					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.1126G>A	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325193	0.81580	.	.	ENSG00000106144	ENST00000310447	T	0.24908	1.83	5.28	5.28	0.74379	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.155507	0.56097	D	0.000027	T	0.51991	0.1707	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.56589	-0.7954	10	0.72032	D	0.01	.	13.8831	0.63693	0.0:0.0:0.8476:0.1524	.	376	P42575	CASP2_HUMAN	T	376	ENSP00000312664:A376T	ENSP00000312664:A376T	A	+	1	0	CASP2	142711897	1.000000	0.71417	0.960000	0.40013	0.577000	0.36160	7.290000	0.78711	2.480000	0.83734	0.644000	0.83932	GCC		0.537	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		68	466	0	0	0	1	0	68	466				
ATL1	51062	broad.mit.edu	37	14	51094994	51094994	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51094994C>T	ENST00000358385.6	+	12	1606	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ATL1_ENST00000354525.4_Silent_p.I455I|ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000441560.2_Silent_p.I455I	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	455	Sufficient for membrane association.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGTAGTCATCTTTATCACAT	0.398																																						ENST00000441560.2																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(1363-1365)atC>atT		atlastin GTPase 1							212.0	179.0	190.0					14																	51094994		2203	4300	6503	SO:0001819	synonymous_variant	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51094994C>T	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.1365C>T	14.37:g.51094994C>T						ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000358385.6_Silent_p.I455I|ATL1_ENST00000354525.4_Silent_p.I455I	p.I455I	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN			13	1846	+			455			Sufficient for membrane association.		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000358385.6	37	c.1365C>T	CCDS9700.1																																																																																				0.398	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			114	415	0	0	0	1	0	114	415				
PDE4D	5144	broad.mit.edu	37	5	59064094	59064094	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59064094C>T	ENST00000340635.6	-	1	631				PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.R81H|PDE4D_ENST00000507116.1_Missense_Mutation_p.R81H	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CACCGTGAAACGCCGCTGTTT	0.542																																						ENST00000507116.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(241-243)cGt>cAt		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						268.0	242.0	250.0					5																	59064094		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59064094C>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+124900G>A	5.37:g.59064094C>T						PDE4D_ENST00000502575.1_Missense_Mutation_p.R81H|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron	p.R81H	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	377	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0			Pro-rich.		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.242G>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120364	0.77323	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;D	0.82344	-0.39;-1.6	5.1	5.1	0.69264	.	.	.	.	.	D	0.90967	0.7160	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.938;0.984	D	0.90902	0.4769	8	0.49607	T	0.09	.	18.3194	0.90232	0.0:1.0:0.0:0.0	.	81;81	Q08499-12;Q08499-6	.;.	H	81	ENSP00000424852:R81H;ENSP00000425917:R81H	ENSP00000308485:R81H	R	-	2	0	PDE4D	59099851	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	7.289000	0.78701	2.634000	0.89283	0.655000	0.94253	CGT		0.542	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			144	581	0	0	0	1	0	144	581				
TLE1	7088	broad.mit.edu	37	9	84228383	84228383	+	Silent	SNP	G	G	A	rs566199044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84228383G>A	ENST00000376499.3	-	12	2036	c.972C>T	c.(970-972)agC>agT	p.S324S	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	324	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGGCATGTCGCTCCGAGGCG	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16159	0.0		0.0	False		,,,				2504	0.0				NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(970-972)agC>agT		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							123.0	125.0	124.0					9																	84228383		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84228383G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.972C>T	9.37:g.84228383G>A						TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	p.S324S	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			12	2036	-			324			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.972C>T	CCDS6661.1																																																																																				0.537	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		92	467	0	0	0	1	0	92	467				
FCRLB	127943	broad.mit.edu	37	1	161695827	161695827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161695827C>T	ENST00000367948.2	+	6	739	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	175	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCGCATCCCGGTGGAGAGC	0.637											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(523-525)cCg>cTg		Fc receptor-like B							35.0	37.0	36.0					1																	161695827		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161695827C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.524C>T	1.37:g.161695827C>T	ENSP00000356925:p.Pro175Leu		OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1818	FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L|FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L	p.P175L			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		6	739	+	all_hematologic(112;0.0359)		175			Ig-like C2-type 2.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.524C>T	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547364	0.86022	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82;5.82	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.256742	0.27715	N	0.018148	T	0.01189	0.0039	L	0.36672	1.1	0.50039	D	0.999846	D;D;D;D;D	0.89917	0.981;1.0;0.999;0.994;1.0	B;D;P;P;D	0.87578	0.43;0.998;0.864;0.764;0.987	T	0.75260	-0.3380	10	0.48119	T	0.1	.	12.7124	0.57098	0.0:1.0:0.0:0.0	.	168;168;175;175;175	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	L	175;175;168;175;168;175	ENSP00000356925:P175L;ENSP00000356923:P175L;ENSP00000356922:P168L;ENSP00000338598:P175L;ENSP00000356921:P168L;ENSP00000375999:P175L	ENSP00000338598:P175L	P	+	2	0	FCRLB	159962451	0.946000	0.32159	0.995000	0.50966	0.976000	0.68499	2.163000	0.42377	2.038000	0.60285	0.455000	0.32223	CCG		0.637	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		51	254	0	0	0	1	0	51	254				
WASL	8976	broad.mit.edu	37	7	123332856	123332856	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123332856C>A	ENST00000223023.4	-	9	1224	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	298	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ggaggaggacctgagttgtgt	0.602																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(892-894)Ggt>Tgt		Wiskott-Aldrich syndrome-like							46.0	50.0	49.0					7																	123332856		2202	4298	6500	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332856C>A	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.892G>T	7.37:g.123332856C>A	ENSP00000223023:p.Gly298Cys						p.G298C	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1224	-			298			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.892G>T	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556491	0.45487	.	.	ENSG00000106299	ENST00000223023	D	0.90261	-2.64	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.112073	0.64402	D	0.000014	D	0.90903	0.7141	L	0.60455	1.87	0.42982	D	0.994466	D	0.58620	0.983	P	0.46975	0.533	D	0.90559	0.4514	10	0.39692	T	0.17	-2.6205	19.209	0.93747	0.0:1.0:0.0:0.0	.	298	O00401	WASL_HUMAN	C	298	ENSP00000223023:G298C	ENSP00000223023:G298C	G	-	1	0	WASL	123120092	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	4.111000	0.57838	2.528000	0.85240	0.644000	0.83932	GGT		0.602	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		77	369	1	0	3.02199e-20	1	3.38447e-20	77	369				
IGLV5-48	28780	broad.mit.edu	37	22	22707534	22707534	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22707534G>A	ENST00000390293.1	+	0	122									immunoglobulin lambda variable 5-48 (non-functional)																		AGACTCACCTGCACCTTGCGC	0.547																																						ENST00000390293.1																			0																				119.0	123.0	122.0					22																	22707534		2054	4226	6280			0							g.chr22:22707534G>A	Z73649		22q11.2	2012-02-08	2008-09-15		ENSG00000211647	ENSG00000211647		"""Immunoglobulins / IGL locus"""	5925	other	immunoglobulin gene			"""immunoglobulin lambda variable 5-48"""				Standard	NG_000002		Approved				OTTHUMG00000151041		22.37:g.22707534G>A														0	122	+									RNA	SNP	ENST00000390293.1	37																																																																																						0.547	IGLV5-48-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321100.2	NG_000002		145	472	0	0	0	1	0	145	472				
AMBRA1	55626	broad.mit.edu	37	11	46419133	46419133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419133G>A	ENST00000458649.2	-	18	4182	c.3764C>T	c.(3763-3765)cCc>cTc	p.P1255L	AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1255					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AACAGGAATGGGGACAGGGGA	0.647																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(3763-3765)cCc>cTc		autophagy/beclin-1 regulator 1							66.0	67.0	67.0					11																	46419133		2202	4299	6501	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46419133G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3764C>T	11.37:g.46419133G>A	ENSP00000415327:p.Pro1255Leu					AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L	p.P1255L			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	18	4182	-			1255					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3764C>T		.	.	.	.	.	.	.	.	.	.	G	8.631	0.893776	0.17613	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.71103	-0.37;-0.54;-0.13;-0.26;-0.13;-0.23;-0.26	4.22	1.13	0.20643	.	0.389476	0.24027	N	0.042225	T	0.48333	0.1494	N	0.19112	0.55	0.27832	N	0.941416	B;B;B;B;B;B	0.33238	0.18;0.275;0.275;0.275;0.403;0.275	B;B;B;B;B;B	0.25291	0.011;0.025;0.025;0.025;0.059;0.025	T	0.45659	-0.9246	10	0.87932	D	0	.	7.394	0.26926	0.0:0.3543:0.463:0.1826	.	1255;1226;1195;1136;1258;1165	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	L	1165;1136;1195;1226;1195;1255;213;1226	ENSP00000318313:P1165L;ENSP00000433372:P1136L;ENSP00000431926:P1195L;ENSP00000410899:P1226L;ENSP00000298834:P1195L;ENSP00000415327:P1255L;ENSP00000433945:P1226L	ENSP00000298834:P1195L	P	-	2	0	AMBRA1	46375709	0.898000	0.30612	0.201000	0.23476	0.011000	0.07611	1.646000	0.37249	0.267000	0.21916	-0.314000	0.08810	CCC		0.647	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		14	246	0	0	0	1	0	14	246				
GOLGA3	2802	broad.mit.edu	37	12	133359027	133359027	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133359027T>C	ENST00000450791.2	-	16	3503	c.3320A>G	c.(3319-3321)aAc>aGc	p.N1107S	GOLGA3_ENST00000204726.3_Missense_Mutation_p.N1107S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S			Q08378	GOGA3_HUMAN	golgin A3	1107					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.N1107S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAACTTCTTGTTTGACTCCTC	0.468																																						ENST00000204726.3																			1	Substitution - Missense(1)	p.N1107S(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3319-3321)aAc>aGc		golgin A3							165.0	161.0	162.0					12																	133359027		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133359027T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3320A>G	12.37:g.133359027T>C	ENSP00000410378:p.Asn1107Ser					GOLGA3_ENST00000450791.2_Missense_Mutation_p.N1107S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S	p.N1107S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	17	3878	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1107					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3320A>G	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975351	0.53720	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.32753	1.44;1.44;1.45	6.07	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.50145	-0.8862	10	0.26408	T	0.33	.	12.2323	0.54495	0.0:0.0661:0.0:0.9339	.	1107;1107	Q08378-2;Q08378	.;GOGA3_HUMAN	S	1107	ENSP00000204726:N1107S;ENSP00000410378:N1107S;ENSP00000409303:N1107S	ENSP00000204726:N1107S	N	-	2	0	GOLGA3	131869100	1.000000	0.71417	0.841000	0.33234	0.148000	0.21650	6.113000	0.71553	1.110000	0.41699	0.533000	0.62120	AAC		0.468	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		123	595	0	0	0	1	0	123	595				
DUSP13	51207	broad.mit.edu	37	10	76854490	76854490	+	Missense_Mutation	SNP	G	G	T	rs148360130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76854490G>T	ENST00000472493.2	-	4	619	c.541C>A	c.(541-543)Ctc>Atc	p.L181I	DUSP13_ENST00000491677.2_Missense_Mutation_p.L310I|DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	181	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCTGCCGGAGGAAGCCTGAG	0.622																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(928-930)Ctc>Atc		dual specificity phosphatase 13							71.0	59.0	63.0					10																	76854490		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76854490G>T	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.541C>A	10.37:g.76854490G>T	ENSP00000444580:p.Leu181Ile					DUSP13_ENST00000472493.2_Missense_Mutation_p.L181I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I	p.L310I	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			8	1470	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		172					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.928C>A	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858370	0.91433	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.52	5.52	0.82312	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	L	0.52364	1.645	0.52501	D	0.999954	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.72357	-0.4318	10	0.51188	T	0.08	-4.6071	19.4454	0.94844	0.0:0.0:1.0:0.0	.	231;310;181	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	I	181;181;310;274;130;231	ENSP00000311051:L181I;ENSP00000444580:L181I;ENSP00000436312:L310I;ENSP00000434041:L130I;ENSP00000361785:L231I	ENSP00000311051:L181I	L	-	1	0	DUSP13	76524496	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.287000	0.72671	2.586000	0.87340	0.655000	0.94253	CTC		0.622	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			38	162	1	0	4.0492e-12	1	4.34013e-12	38	162				
EPS8L2	64787	broad.mit.edu	37	11	722509	722509	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:722509T>C	ENST00000533256.1	+	14	1543	c.1168T>C	c.(1168-1170)Tcg>Ccg	p.S390P	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	390					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAAGGAGATGTCGCTGTGGGA	0.687																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1168-1170)Tcg>Ccg		EPS8-like 2							55.0	50.0	52.0					11																	722509		2203	4300	6503	SO:0001583	missense	64787					cytoplasm		g.chr11:722509T>C	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1168T>C	11.37:g.722509T>C	ENSP00000435585:p.Ser390Pro					EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|AP006621.9_ENST00000527021.2_RNA	p.S390P			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1543	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	390					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1168T>C	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	t	12.30	1.897953	0.33535	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	2.98	-0.829	0.10796	.	1.727610	0.03872	U	0.275779	T	0.17662	0.0424	L	0.38175	1.15	0.29120	N	0.880295	B;B	0.31730	0.337;0.337	B;B	0.32289	0.143;0.143	T	0.28267	-1.0049	10	0.41790	T	0.15	-5.1488	6.6122	0.22757	0.1299:0.0:0.6541:0.216	.	406;390	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	P	390;390;390;406	ENSP00000320828:S390P;ENSP00000435585:S390P;ENSP00000436035:S390P;ENSP00000436230:S406P	ENSP00000320828:S390P	S	+	1	0	EPS8L2	712509	0.005000	0.15991	0.399000	0.26333	0.763000	0.43281	-0.021000	0.12504	-0.341000	0.08376	0.398000	0.26397	TCG		0.687	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		37	198	0	0	0	1	0	37	198				
ECHDC3	79746	broad.mit.edu	37	10	11805264	11805264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11805264C>T	ENST00000379215.4	+	5	844	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	211						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCATTTCTGCCCAGGAGGCCC	0.637																																						ENST00000379215.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						c.(631-633)gcC>gcT		enoyl CoA hydratase domain containing 3							73.0	59.0	64.0					10																	11805264		2203	4300	6503	SO:0001819	synonymous_variant	79746					mitochondrion	catalytic activity	g.chr10:11805264C>T	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.633C>T	10.37:g.11805264C>T						ECHDC3_ENST00000496136.1_3'UTR	p.A211A	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN			5	844	+			211					Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	37	c.633C>T	CCDS7084.1																																																																																				0.637	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		35	150	0	0	0	1	0	35	150				
UMODL1	89766	broad.mit.edu	37	21	43504288	43504288	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43504288C>T	ENST00000408910.2	+	3	414	c.414C>T	c.(412-414)gaC>gaT	p.D138D	UMODL1_ENST00000400427.1_Silent_p.D66D|UMODL1_ENST00000400424.2_Silent_p.D66D|UMODL1_ENST00000408989.2_Silent_p.D138D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	138	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGACATCGACTGTCCTGGAC	0.652																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(196-198)gaC>gaT		uromodulin-like 1							80.0	87.0	85.0					21																	43504288		1929	4134	6063	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43504288C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.414C>T	21.37:g.43504288C>T						UMODL1_ENST00000408910.2_Silent_p.D138D|UMODL1_ENST00000400424.1_Silent_p.D66D|UMODL1_ENST00000408989.2_Silent_p.D138D	p.D66D	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			3	594	+			138			EMI.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.198C>T	CCDS42936.1																																																																																				0.652	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			29	695	0	0	0	1	0	29	695				
RSC1A1	6248	broad.mit.edu	37	1	15986601	15986601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15986601C>T	ENST00000345034.1	+	1	238	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	80					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTCTGATCATGCTTCCTC	0.423																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(238-240)Cat>Tat		regulatory solute carrier protein, family 1, member 1							107.0	109.0	108.0					1																	15986601		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986601C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.238C>T	1.37:g.15986601C>T	ENSP00000341963:p.His80Tyr					DDI2_ENST00000480945.1_3'UTR	p.H80Y	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	238	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	80					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.238C>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.386950	0.00202	.	.	ENSG00000215695	ENST00000345034	T	0.42513	0.97	5.61	-4.42	0.03579	.	0.853756	0.09821	N	0.751463	T	0.11922	0.0290	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.30060	-0.9991	10	0.02654	T	1	4.7004	2.8138	0.05450	0.1828:0.4457:0.0908:0.2807	.	80	Q92681	RSCA1_HUMAN	Y	80	ENSP00000341963:H80Y	ENSP00000341963:H80Y	H	+	1	0	RSC1A1	15859188	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.782000	0.04643	-0.654000	0.05394	0.561000	0.74099	CAT		0.423	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		38	668	0	0	0	1	0	38	668				
SLC6A6	6533	broad.mit.edu	37	3	14518786	14518786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518786G>A	ENST00000454876.2	+	11	1612	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	428					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGTTATCGTCGGGAAATCTTC	0.517																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1282-1284)cGg>cAg		solute carrier family 6 (neurotransmitter transporter), member 6							183.0	151.0	162.0					3																	14518786		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14518786G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1283G>A	3.37:g.14518786G>A	ENSP00000398063:p.Arg428Gln					SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q	p.R428Q			P31641	SC6A6_HUMAN			11	1612	+			428					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1283G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526231	0.96431	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	D;D	0.81821	-1.54;-1.54	4.73	4.73	0.59995	.	0.110564	0.64402	D	0.000008	D	0.90442	0.7007	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.92445	0.5965	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	428	P31641	SC6A6_HUMAN	Q	428	ENSP00000398063:R428Q;ENSP00000354107:R428Q	ENSP00000354107:R428Q	R	+	2	0	SLC6A6	14493790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.779000	0.99018	2.325000	0.78763	0.491000	0.48974	CGG		0.517	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		94	346	0	0	0	1	0	94	346				
UBA7	7318	broad.mit.edu	37	3	49845353	49845353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49845353C>T	ENST00000333486.3	-	21	2689	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	844					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCCACAATTCGCTTGCTCTG	0.612																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2530-2532)cGa>cAa		ubiquitin-like modifier activating enzyme 7							74.0	69.0	71.0					3																	49845353		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49845353C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2531G>A	3.37:g.49845353C>T	ENSP00000333266:p.Arg844Gln						p.R844Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	21	2689	-			844					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2531G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	5.302	0.241135	0.10077	.	.	ENSG00000182179	ENST00000333486	T	0.38401	1.14	4.95	-3.92	0.04155	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.538297	0.19794	N	0.105901	T	0.14056	0.0340	N	0.12569	0.235	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.10823	-1.0613	10	0.27082	T	0.32	0.055	4.8416	0.13492	0.2254:0.3499:0.0:0.4248	.	844	P41226	UBA7_HUMAN	Q	844	ENSP00000333266:R844Q	ENSP00000333266:R844Q	R	-	2	0	UBA7	49820357	0.009000	0.17119	0.003000	0.11579	0.278000	0.26855	-0.110000	0.10824	-0.715000	0.04968	-0.268000	0.10319	CGA		0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		46	168	0	0	0	1	0	46	168				
MSH3	4437	broad.mit.edu	37	5	80064769	80064769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80064769C>T	ENST00000265081.6	+	15	2280	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	734					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCAAGAAATACGAAAAATACT	0.318								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2200-2202)Cga>Tga	Mismatch excision repair (MMR)	mutS homolog 3							71.0	72.0	72.0					5																	80064769		2203	4297	6500	SO:0001587	stop_gained	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80064769C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2200C>T	5.37:g.80064769C>T	ENSP00000265081:p.Arg734*						p.R734*	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	15	2280	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	734					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	c.2200C>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	38	6.671255	0.97751	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	4.51	1.65	0.23941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.0063	13.3788	0.60757	0.3993:0.6007:0.0:0.0	.	.	.	.	X	734;725	.	.	R	+	1	2	MSH3	80100525	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	2.573000	0.46007	0.077000	0.16863	-1.378000	0.01179	CGA		0.318	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		50	198	0	0	0	1	0	50	198				
TNRC6A	27327	broad.mit.edu	37	16	24831545	24831545	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24831545G>A	ENST00000395799.3	+	22	5295	c.5166G>A	c.(5164-5166)ttG>ttA	p.L1722L	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Silent_p.L1673L|TNRC6A_ENST00000432286.2_Silent_p.L200L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1722	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGGTCCCTTTGCCACCTAAAA	0.517																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5164-5166)ttG>ttA		trinucleotide repeat containing 6A							141.0	131.0	134.0					16																	24831545		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24831545G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5166G>A	16.37:g.24831545G>A						TNRC6A_ENST00000432286.2_Silent_p.L200L|TNRC6A_ENST00000315183.7_Silent_p.L1673L	p.L1722L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	22	5295	+			1722			Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.5166G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225771	0.22542	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.79	3.76	0.43208	.	.	.	.	.	T	0.62877	0.2464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59402	-0.7461	4	.	.	.	-5.0009	12.1343	0.53961	0.1445:0.0:0.8555:0.0	.	.	.	.	T	613	.	.	A	+	1	0	TNRC6A	24739046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.028000	0.57246	0.720000	0.32209	0.655000	0.94253	GCC		0.517	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		19	645	0	0	0	1	0	19	645				
SFMBT2	57713	broad.mit.edu	37	10	7230594	7230594	+	Silent	SNP	C	C	T	rs373706082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7230594C>T	ENST00000361972.4	-	16	1890	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SFMBT2_ENST00000397167.1_Silent_p.L600L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	600					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTTGGCCTTCAGCGTCTCTT	0.443																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1798-1800)ctG>ctA		Scm-like with four mbt domains 2							102.0	99.0	100.0					10																	7230594		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7230594C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1800G>A	10.37:g.7230594C>T						SFMBT2_ENST00000397167.1_Silent_p.L600L	p.L600L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			16	1890	-			600					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1800G>A	CCDS31138.1																																																																																				0.443	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		50	220	0	0	0	1	0	50	220				
SCAF11	9169	broad.mit.edu	37	12	46318633	46318633	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46318633G>A	ENST00000369367.3	-	12	4017	c.3784C>T	c.(3784-3786)Ccc>Tcc	p.P1262S	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.P1262S|SCAF11_ENST00000549162.1_Missense_Mutation_p.P1070S|SCAF11_ENST00000465950.1_Missense_Mutation_p.P947S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1262	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGCATGAGGGGCACTCCTGTG	0.517																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2839-2841)Ccc>Tcc		SR-related CTD-associated factor 11							169.0	133.0	145.0					12																	46318633		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318633G>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3784C>T	12.37:g.46318633G>A	ENSP00000358374:p.Pro1262Ser					SCAF11_ENST00000369367.3_Missense_Mutation_p.P1262S|SCAF11_ENST00000419565.2_Missense_Mutation_p.P1262S|SCAF11_ENST00000549162.1_Missense_Mutation_p.P1070S	p.P947S			Q99590	SCAFB_HUMAN			2	4048	-			1262			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2839C>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812946	0.90707	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000009	T	0.79793	0.4507	M	0.74881	2.28	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.79564	-0.1751	9	.	.	.	-19.8019	19.2013	0.93712	0.0:0.0:1.0:0.0	.	1262	Q99590	SCAFB_HUMAN	S	947;1262;1070;1262	ENSP00000449812:P947S;ENSP00000358374:P1262S;ENSP00000448864:P1070S;ENSP00000413036:P1262S	.	P	-	1	0	SCAF11	44604900	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.071000	0.89494	2.611000	0.88343	0.563000	0.77884	CCC		0.517	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		57	237	0	0	0	1	0	57	237				
AMOT	154796	broad.mit.edu	37	X	112054512	112054512	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112054512A>G	ENST00000524145.1	-	4	1576	c.1502T>C	c.(1501-1503)aTt>aCt	p.I501T	AMOT_ENST00000371962.1_Missense_Mutation_p.I269T|AMOT_ENST00000371959.3_Missense_Mutation_p.I501T|AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000371958.1_Missense_Mutation_p.I269T			Q4VCS5	AMOT_HUMAN	angiomotin	501					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CATCCTCCGAATCTCGCCCTC	0.517																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1501-1503)aTt>aCt		angiomotin							249.0	208.0	222.0					X																	112054512		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112054512A>G	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1502T>C	X.37:g.112054512A>G	ENSP00000429013:p.Ile501Thr					AMOT_ENST00000371958.1_Missense_Mutation_p.I269T|AMOT_ENST00000524145.1_Missense_Mutation_p.I501T|AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000371962.1_Missense_Mutation_p.I269T	p.I501T	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			3	1501	-			501					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1502T>C	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262921	0.59431	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.89	5.89	0.94794	.	0.105412	0.64402	D	0.000003	T	0.42245	0.1194	M	0.79123	2.44	0.50467	D	0.999876	D	0.53151	0.958	P	0.50082	0.63	T	0.46020	-0.9221	10	0.72032	D	0.01	-15.3733	14.3202	0.66482	1.0:0.0:0.0:0.0	.	501	Q4VCS5	AMOT_HUMAN	T	92;501;269;501;269	ENSP00000305557:I92T;ENSP00000361027:I501T;ENSP00000361030:I269T;ENSP00000429013:I501T;ENSP00000361026:I269T	ENSP00000305557:I92T	I	-	2	0	AMOT	111941168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	1.980000	0.57719	0.486000	0.48141	ATT		0.517	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		179	717	0	0	0	1	0	179	717				
ABLIM2	84448	broad.mit.edu	37	4	8062713	8062713	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8062713G>A	ENST00000341937.5	-	7	808	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000318888.4_Silent_p.G5G|ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G|ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G|ABLIM2_ENST00000296372.8_Silent_p.G248G	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	248	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACATCTCTTCGCCTTCTGCAA	0.483																																						ENST00000318888.4																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(13-15)ggC>ggT		actin binding LIM protein family, member 2							54.0	56.0	56.0					4																	8062713		2071	4208	6279	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8062713G>A	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.744C>T	4.37:g.8062713G>A						ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G|ABLIM2_ENST00000296372.8_Silent_p.G248G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G|ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000341937.5_Silent_p.G248G	p.G5G			Q6H8Q1	ABLM2_HUMAN			7	886	-			248					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.15C>T	CCDS47013.1																																																																																				0.483	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		6	40	0	0	0	1	0	6	40				
OR6T1	219874	broad.mit.edu	37	11	123813879	123813879	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123813879C>T	ENST00000321252.2	-	1	701	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A223S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGAACAGTGGCAAGAATGCAG	0.537																																						ENST00000321252.2																			1	Substitution - Missense(1)	p.A223S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(667-669)Gcc>Acc		olfactory receptor, family 6, subfamily T, member 1							86.0	81.0	83.0					11																	123813879		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813879C>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.667G>A	11.37:g.123813879C>T	ENSP00000325203:p.Ala223Thr						p.A223T	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	701	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	223					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.667G>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	5.029	0.190997	0.09547	.	.	ENSG00000181499	ENST00000321252	T	0.37411	1.2	3.7	0.481	0.16809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17577	0.0422	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.23404	-1.0189	9	0.59425	D	0.04	-13.4277	1.7649	0.03000	0.3642:0.3464:0.1786:0.1108	.	223	Q8NGN1	OR6T1_HUMAN	T	223	ENSP00000325203:A223T	ENSP00000325203:A223T	A	-	1	0	OR6T1	123319089	0.000000	0.05858	0.039000	0.18376	0.603000	0.37013	-3.221000	0.00552	-0.097000	0.12307	0.563000	0.77884	GCC		0.537	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		43	298	0	0	0	1	0	43	298				
IGF1R	3480	broad.mit.edu	37	15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A	rs541998637		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99472828G>A	ENST00000268035.6	+	14	3435	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	942					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGCTCTGCCCGTCGCTGTCCT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19063	0.0		0.0	False		,,,				2504	0.0					ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2824-2826)Gtc>Atc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						219.0	192.0	201.0					15																	99472828		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99472828G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2824G>A	15.37:g.99472828G>A	ENSP00000268035:p.Val942Ile					IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	p.V942I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		14	3435	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		942					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2824G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	3.276	-0.148150	0.06627	.	.	ENSG00000140443	ENST00000268035	T	0.75821	-0.97	5.67	-1.99	0.07457	.	0.616206	0.14059	N	0.344184	T	0.37489	0.1005	N	0.02181	-0.65	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.38067	-0.9678	10	0.07175	T	0.84	.	6.0157	0.19601	0.6509:0.0:0.1983:0.1508	.	941;942	C9J5X1;P08069	.;IGF1R_HUMAN	I	942	ENSP00000268035:V942I	ENSP00000268035:V942I	V	+	1	0	IGF1R	97290351	0.659000	0.27411	0.000000	0.03702	0.880000	0.50808	1.193000	0.32162	-0.209000	0.10156	-0.137000	0.14449	GTC		0.443	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		39	446	0	0	0	1	0	39	446				
ERC1	23085	broad.mit.edu	37	12	1346029	1346029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1346029C>T	ENST00000397203.2	+	13	2852	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R816*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R816*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	816					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGAGGCGCGACGACGGGAGGA	0.458																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2446-2448)Cga>Tga		ELKS/RAB6-interacting/CAST family member 1							128.0	112.0	117.0					12																	1346029		2203	4300	6503	SO:0001587	stop_gained	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1346029C>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2446C>T	12.37:g.1346029C>T	ENSP00000380386:p.Arg816*					ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R816*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R816*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*	p.R816*			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		13	2852	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		816					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	c.2446C>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	C	37	6.457092	0.97581	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.81	2.76	0.32466	.	0.116075	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.4586	15.2903	0.73862	0.4961:0.5039:0.0:0.0	.	.	.	.	X	792;816;792;792;520;788;792;520;816;816;816;792;568;456	.	ENSP00000299183:R520X	R	+	1	2	ERC1	1216290	0.999000	0.42202	0.441000	0.26858	0.443000	0.32047	2.599000	0.46231	0.718000	0.32166	0.650000	0.86243	CGA		0.458	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		15	155	0	0	0	1	0	15	155				
TMEM194A	23306	broad.mit.edu	37	12	57453749	57453749	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57453749C>A	ENST00000300128.4	-	9	1271	c.1248G>T	c.(1246-1248)caG>caT	p.Q416H	TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	416						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGATTTCATCCTGGGCAATAA	0.463																																						ENST00000300128.4																			0				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1246-1248)caG>caT		transmembrane protein 194A							122.0	102.0	109.0					12																	57453749		2203	4300	6503	SO:0001583	missense	23306					integral to membrane		g.chr12:57453749C>A	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.1248G>T	12.37:g.57453749C>A	ENSP00000300128:p.Gln416His					TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	p.Q416H	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN			9	1271	-			416					Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.1248G>T	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576794	0.86645	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.45276	0.91;0.9	5.61	3.78	0.43462	.	0.050665	0.85682	D	0.000000	T	0.39200	0.1069	L	0.51422	1.61	0.33505	D	0.590422	P;P	0.44195	0.736;0.828	B;P	0.45138	0.28;0.471	T	0.56998	-0.7886	10	0.87932	D	0	-4.3227	6.9108	0.24335	0.0:0.7363:0.0:0.2637	.	416;343	O14524;O14524-2	T194A_HUMAN;.	H	343;416	ENSP00000368701:Q343H;ENSP00000300128:Q416H	ENSP00000300128:Q416H	Q	-	3	2	TMEM194A	55740016	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	1.595000	0.36708	1.364000	0.46038	0.561000	0.74099	CAG		0.463	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		48	143	1	0	4.18559e-23	1	4.75231e-23	48	143				
PDS5B	23047	broad.mit.edu	37	13	33281111	33281111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33281111G>T	ENST00000315596.10	+	18	2083	c.1897G>T	c.(1897-1899)Gca>Tca	p.A633S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	633					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGATGGAACAGCAGATGATGA	0.323																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(1897-1899)Gca>Tca		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							104.0	102.0	102.0					13																	33281111		1882	4109	5991	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33281111G>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1897G>T	13.37:g.33281111G>T	ENSP00000313851:p.Ala633Ser						p.A633S	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	18	2083	+		Lung SC(185;0.0367)	633					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1897G>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028669	0.54790	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.70749	-0.51	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	N	0.20530	0.585	0.80722	D	1	B	0.19331	0.035	B	0.20184	0.028	T	0.54153	-0.8336	10	0.10902	T	0.67	-0.2668	20.3011	0.98612	0.0:0.0:1.0:0.0	.	633	Q9NTI5	PDS5B_HUMAN	S	633	ENSP00000313851:A633S	ENSP00000313851:A633S	A	+	1	0	PDS5B	32179111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.700000	0.98707	2.804000	0.96469	0.650000	0.86243	GCA		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		21	199	1	0	1.55469e-16	1	1.70887e-16	21	199				
LAMC2	3918	broad.mit.edu	37	1	183212466	183212466	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183212466G>A	ENST00000264144.4	+	23	3578	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1171	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTGATGTGAAGAACTTGGAGA	0.522																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(3511-3513)aaG>aaA		laminin, gamma 2							105.0	102.0	103.0					1																	183212466		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183212466G>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3513G>A	1.37:g.183212466G>A							p.K1171K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			23	3578	+			1171			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.3513G>A	CCDS1352.1																																																																																				0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		99	364	0	0	0	1	0	99	364				
STK11IP	114790	broad.mit.edu	37	2	220479906	220479906	+	Missense_Mutation	SNP	C	C	A	rs577871796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479906C>A	ENST00000456909.1	+	24	3050	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	STK11IP_ENST00000295641.10_Missense_Mutation_p.S998Y			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	998					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGAGCCCTCTCCTCCAGCA	0.652																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(2959-2961)tCt>tAt		serine/threonine kinase 11 interacting protein							17.0	19.0	19.0					2																	220479906		2187	4291	6478	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220479906C>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2960C>A	2.37:g.220479906C>A	ENSP00000389383:p.Ser987Tyr					STK11IP_ENST00000295641.10_Missense_Mutation_p.S998Y	p.S987Y			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	3050	+		Renal(207;0.0183)	998					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2960C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.315|9.315	1.056601|1.056601	0.19907|0.19907	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000447191|ENST00000456909;ENST00000295641	.|T;T	.|0.05513	.|3.43;3.43	4.63|4.63	0.678|0.678	0.17969|0.17969	.|.	.|0.798511	.|0.11322	.|N	.|0.575908	T|T	0.04092|0.04092	0.0114|0.0114	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.16603	.|0.018	.|B	.|0.17722	.|0.019	T|T	0.43458|0.43458	-0.9390|-0.9390	5|10	.|0.66056	.|D	.|0.02	-0.0309|-0.0309	1.5459|1.5459	0.02565|0.02565	0.1706:0.4752:0.1656:0.1887|0.1706:0.4752:0.1656:0.1887	.|.	.|998	.|Q8N1F8	.|S11IP_HUMAN	I|Y	87|987;998	.|ENSP00000389383:S987Y;ENSP00000295641:S998Y	.|ENSP00000295641:S998Y	L|S	+|+	1|2	0|0	STK11IP|STK11IP	220188150|220188150	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	1.195000|1.195000	0.32186|0.32186	-0.055000|-0.055000	0.13244|0.13244	-0.291000|-0.291000	0.09656|0.09656	CTC|TCT		0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		5	54	1	0	1.23904e-05	1	1.26975e-05	5	54				
DLGAP2	9228	broad.mit.edu	37	8	1624783	1624783	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1624783C>T	ENST00000421627.2	+	8	2181	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGATGAGAAGCGGTAACTCAG	0.582																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.e8+1		discs, large (Drosophila) homolog-associated protein 2							33.0	37.0	36.0					8																	1624783		1911	4134	6045	SO:0001630	splice_region_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1624783C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2048+1C>T	8.37:g.1624783C>T							p.R683_splice	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	8	2181	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	762					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Splice_Site	SNP	ENST00000421627.2	37	c.2048_splice	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864159	0.97043	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	.	.	.	5.66	2.83	0.33086	.	0.107337	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-4.6979	14.5081	0.67767	0.5095:0.4905:0.0:0.0	.	.	.	.	X	714;683	.	ENSP00000348366:R714X	R	+	1	2	DLGAP2	1612190	1.000000	0.71417	0.906000	0.35671	0.060000	0.15804	1.383000	0.34385	0.292000	0.22492	-0.309000	0.09137	CGA		0.582	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	Nonsense_Mutation	10	65	0	0	0	1	0	10	65				
C16orf62	57020	broad.mit.edu	37	16	19710833	19710833	+	Missense_Mutation	SNP	C	C	T	rs377505002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19710833C>T	ENST00000251143.5	+	30	2668	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C|C16orf62_ENST00000438132.3_Missense_Mutation_p.R975C|C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	886						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCCTGAAGCGCCAGAGCTC	0.582																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2923-2925)Cgc>Tgc		chromosome 16 open reading frame 62		C	CYS/ARG	0,4394		0,0,2197	88.0	78.0	81.0		2923	4.6	1.0	16		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf62	NM_020314.5	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	975/1053	19710833	1,12993	2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19710833C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2656C>T	16.37:g.19710833C>T	ENSP00000251143:p.Arg886Cys					C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C|C16orf62_ENST00000251143.5_Missense_Mutation_p.R886C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C	p.R975C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			30	2971	+			886					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2923C>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.316318	0.81469	0.0	1.16E-4	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.67698	-0.28;0.6;-0.28;0.6;-0.28	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59288	0.736;0.855	T	0.80603	-0.1309	9	.	.	.	-15.6426	17.699	0.88289	0.0:1.0:0.0:0.0	.	882;886	F5H7K1;Q7Z3J2	.;CP062_HUMAN	C	975;882;886;793;736	ENSP00000400815:R975C;ENSP00000442468:R882C;ENSP00000251143:R886C;ENSP00000395973:R793C;ENSP00000398009:R736C	.	R	+	1	0	C16orf62	19618334	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.790000	0.47821	2.225000	0.72522	0.561000	0.74099	CGC		0.582	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		36	207	0	0	0	1	0	36	207				
MYH7	4625	broad.mit.edu	37	14	23894565	23894565	+	Silent	SNP	G	G	A	rs139882431	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23894565G>A	ENST00000355349.3	-	21	2511	c.2349C>T	c.(2347-2349)cgC>cgT	p.R783R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	783	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCGTGATGATGCGGCTCAGCC	0.587																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2347-2349)cgC>cgT		myosin, heavy chain 7, cardiac muscle, beta		G		1,4405	2.1+/-5.4	0,1,2202	94.0	79.0	84.0		2349	-1.1	1.0	14	dbSNP_134	84	11,8589	7.7+/-29.5	0,11,4289	no	coding-synonymous	MYH7	NM_000257.2		0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923		783/1936	23894565	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894565G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2349C>T	14.37:g.23894565G>A							p.R783R	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	21	2511	-	all_cancers(95;2.54e-05)		783			IQ.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.2349C>T	CCDS9601.1																																																																																				0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	323	0	0	0	1	0	8	323				
FLG2	388698	broad.mit.edu	37	1	152325221	152325221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152325221G>A	ENST00000388718.5	-	3	5113	c.5041C>T	c.(5041-5043)Cat>Tat	p.H1681Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1681					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTCCATGTTGAGATCCA	0.478																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5041-5043)Cat>Tat		filaggrin family member 2							444.0	385.0	405.0					1																	152325221		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325221G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5041C>T	1.37:g.152325221G>A	ENSP00000373370:p.His1681Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H1681Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5113	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1681					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5041C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195910	0.22037	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.69	2.73	0.32206	.	.	.	.	.	T	0.02418	0.0074	M	0.72118	2.19	0.09310	N	1	D	0.61697	0.99	P	0.48524	0.58	T	0.14924	-1.0455	9	0.02654	T	1	2.4938	8.3613	0.32361	0.0:0.0:0.7652:0.2348	.	1681	Q5D862	FILA2_HUMAN	Y	1681	ENSP00000373370:H1681Y	ENSP00000373370:H1681Y	H	-	1	0	FLG2	150591845	.	.	0.002000	0.10522	0.066000	0.16364	.	.	0.858000	0.35431	0.456000	0.33151	CAT		0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		304	1535	0	0	0	1	0	304	1535				
MUC2	4583	broad.mit.edu	37	11	1104196	1104196	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1104196T>C	ENST00000441003.2	+	49	8414	c.8387T>C	c.(8386-8388)gTc>gCc	p.V2796A		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5158					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGACACCGTCTGCGGGCTC	0.701																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(8386-8388)gTc>gCc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						16.0	20.0	19.0					11																	1104196		1942	4126	6068	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1104196T>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8387T>C	11.37:g.1104196T>C	ENSP00000415183:p.Val2796Ala						p.V2796A	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	49	8414	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	5158					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.8387T>C		.	.	.	.	.	.	.	.	.	.	T	6.582	0.475700	0.12521	.	.	ENSG00000198788	ENST00000441003	T	0.11169	2.8	3.1	-6.21	0.02065	.	.	.	.	.	T	0.04497	0.0123	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	9	0.08599	T	0.76	.	7.2697	0.26250	0.2047:0.5492:0.0:0.2461	.	2796	E7EUV1	.	A	2796	ENSP00000415183:V2796A	ENSP00000415183:V2796A	V	+	2	0	MUC2	1094196	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.973000	0.01500	-1.574000	0.01657	-0.589000	0.04120	GTC		0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		22	97	0	0	0	1	0	22	97				
ATP10A	57194	broad.mit.edu	37	15	25959091	25959091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25959091G>A	ENST00000356865.6	-	10	2185	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	692					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGTACCGCAGCTCGCGC	0.667																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2074-2076)Cgg>Tgg		ATPase, class V, type 10A							35.0	36.0	36.0					15																	25959091		2203	4299	6502	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959091G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2074C>T	15.37:g.25959091G>A	ENSP00000349325:p.Arg692Trp						p.R692W	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2185	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	692					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2074C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199519	0.58126	.	.	ENSG00000206190	ENST00000356865	T	0.63580	-0.05	4.5	3.56	0.40772	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.86864	2.845	0.53688	D	0.999978	D	0.76494	0.999	P	0.61658	0.892	T	0.79936	-0.1593	10	0.38643	T	0.18	-30.3787	13.9862	0.64337	0.0:0.0:0.8471:0.1529	.	692	O60312	AT10A_HUMAN	W	692	ENSP00000349325:R692W	ENSP00000349325:R692W	R	-	1	2	ATP10A	23510184	1.000000	0.71417	0.997000	0.53966	0.675000	0.39556	4.994000	0.63901	1.003000	0.39130	0.561000	0.74099	CGG		0.667	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		51	230	0	0	0	1	0	51	230				
KDM2B	84678	broad.mit.edu	37	12	121880000	121880000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880000G>T	ENST00000377071.4	-	19	3316	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000377069.4_Missense_Mutation_p.L1013M	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1082	F-box.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACACACACAGGTCTTGGTGG	0.662																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3037-3039)Ctg>Atg		lysine (K)-specific demethylase 2B							34.0	38.0	37.0					12																	121880000		2067	4189	6256	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880000G>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3244C>A	12.37:g.121880000G>T	ENSP00000366271:p.Leu1082Met					KDM2B_ENST00000377071.4_Missense_Mutation_p.L1082M|KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000536437.1_Intron	p.L1013M	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3443	-			1082					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3037C>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869251	0.72065	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.22743	1.94;1.94;1.94	5.85	2.95	0.34219	F-box domain, cyclin-like (2);	0.147705	0.30575	N	0.009333	T	0.53498	0.1800	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.996	D;D;D;D	0.91635	0.981;0.999;0.999;0.975	T	0.58002	-0.7713	10	0.87932	D	0	-20.2148	9.0297	0.36252	0.3872:0.0:0.6128:0.0	.	522;1082;1013;525	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	M	1070;450;1013;1082;525;1085	ENSP00000437821:L450M;ENSP00000366269:L1013M;ENSP00000366271:L1082M	ENSP00000261824:L1085M	L	-	1	2	KDM2B	120364383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.798000	0.47884	0.334000	0.23590	0.650000	0.86243	CTG		0.662	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		50	199	1	0	2.14674e-31	1	2.52731e-31	50	199				
SEMA5B	54437	broad.mit.edu	37	3	122631763	122631763	+	Silent	SNP	C	C	T	rs370662105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122631763C>T	ENST00000357599.3	-	18	3038	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E	SEMA5B_ENST00000195173.4_Silent_p.E883E|SEMA5B_ENST00000451055.2_Silent_p.E938E	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	884	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGTTGCGGGGCTCCGGGTTAG	0.706																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(2647-2649)gaG>gaA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		C		0,4402		0,0,2201	35.0	44.0	41.0		2652	5.0	1.0	3		41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SEMA5B	NM_001031702.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		884/1152	122631763	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122631763C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2652G>A	3.37:g.122631763C>T						SEMA5B_ENST00000357599.3_Silent_p.E884E|SEMA5B_ENST00000451055.2_Silent_p.E938E	p.E883E			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	18	2952	-			884			TSP type-1 3.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.2649G>A	CCDS35491.1																																																																																				0.706	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		88	348	0	0	0	1	0	88	348				
DNAH8	1769	broad.mit.edu	37	6	38834380	38834380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38834380C>T	ENST00000359357.3	+	44	6115	c.5861C>T	c.(5860-5862)gCt>gTt	p.A1954V	DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1954	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGGATATGCTGGGCGCCAG	0.318																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(5860-5862)gCt>gTt		dynein, axonemal, heavy chain 8							60.0	61.0	61.0					6																	38834380		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38834380C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5861C>T	6.37:g.38834380C>T	ENSP00000352312:p.Ala1954Val					DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V	p.A1954V							44	6115	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5861C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.518254	0.96416	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14022	2.54;2.54;2.54	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07366	-1.0776	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1954	Q96JB1	DYH8_HUMAN	V	2159;2159;1954;1954	ENSP00000333363:A2159V;ENSP00000352312:A1954V;ENSP00000402294:A1954V	ENSP00000333363:A2159V	A	+	2	0	DNAH8	38942358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.941000	0.99782	0.655000	0.94253	GCT		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		30	122	0	0	0	1	0	30	122				
TNFSF13	8741	broad.mit.edu	37	17	7463427	7463427	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463427G>T	ENST00000338784.4	+	4	890	c.447G>T	c.(445-447)caG>caT	p.Q149H	SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H|TNFSF13_ENST00000349228.4_Missense_Mutation_p.Q133H	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	149					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				GAGGCCTACAGGCCCAAGGAT	0.552											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349228.4																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(397-399)caG>caT		tumor necrosis factor (ligand) superfamily, member 13							119.0	114.0	116.0					17																	7463427		2203	4300	6503	SO:0001583	missense	8741							g.chr17:7463427G>T	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.447G>T	17.37:g.7463427G>T	ENSP00000343505:p.Gln149His		OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	641	TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF13_ENST00000338784.4_Missense_Mutation_p.Q149H	p.Q133H	NM_172087.2	NP_742084.1					3	963	+		Prostate(122;0.157)						A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Missense_Mutation	SNP	ENST00000338784.4	37	c.399G>T	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761740	0.31228	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;D;D;T;T;D;D;D;D	0.94758	-3.51;-3.51;-3.51;1.42;1.4;-3.51;-3.51;-3.51;-3.51	5.15	2.77	0.32553	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.313785	0.36167	N	0.002755	D	0.93096	0.7802	L	0.39898	1.24	0.31543	N	0.659642	P;P;P;P;P;P	0.51147	0.808;0.808;0.606;0.808;0.883;0.942	P;P;P;P;P;P	0.54312	0.567;0.567;0.526;0.748;0.632;0.692	D	0.91391	0.5135	10	0.40728	T	0.16	-9.5232	10.0629	0.42286	0.1955:0.0:0.8045:0.0	.	121;122;133;149;149;229	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3;Q8IZK7	.;.;.;TNF13_HUMAN;.;.	H	229;229;104;116;132;133;149;121;149	ENSP00000451451:Q229H;ENSP00000293826:Q229H;ENSP00000379792:Q104H;ENSP00000390771:Q116H;ENSP00000410094:Q132H;ENSP00000314455:Q133H;ENSP00000343505:Q149H;ENSP00000369908:Q121H;ENSP00000379794:Q149H	ENSP00000293826:Q229H	Q	+	3	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7404151	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	1.762000	0.38451	1.163000	0.42636	-0.291000	0.09656	CAG		0.552	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808		20	607	1	0	2.37509e-13	1	2.56396e-13	20	607				
FAM83B	222584	broad.mit.edu	37	6	54805335	54805335	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805335C>A	ENST00000306858.7	+	5	1682	c.1566C>A	c.(1564-1566)ggC>ggA	p.G522G	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	522										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATTTGAGGGCTATGATAATC	0.408																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1564-1566)ggC>ggA		family with sequence similarity 83, member B							106.0	107.0	107.0					6																	54805335		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54805335C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1566C>A	6.37:g.54805335C>A							p.G522G	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1682	+	Lung NSC(77;0.0178)|Renal(3;0.122)		522					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.1566C>A	CCDS34479.1																																																																																				0.408	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		15	401	1	0	2.23348e-06	1	2.30073e-06	15	401				
EFTUD2	9343	broad.mit.edu	37	17	42971886	42971886	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42971886C>A	ENST00000426333.2	-	2	301	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000589211.1_5'Flank	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	2					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AAGTCGGTATCCATGATGCTA	0.403																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(4-6)Gat>Tat		elongation factor Tu GTP binding domain containing 2							127.0	116.0	120.0					17																	42971886		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42971886C>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.4G>T	17.37:g.42971886C>A	ENSP00000392094:p.Asp2Tyr					EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y	p.D2Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			2	301	-		Prostate(33;0.109)	2					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.4G>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328628	0.81690	.	.	ENSG00000108883	ENST00000426333;ENST00000262414	T	0.75704	-0.96	5.24	5.24	0.73138	.	0.054873	0.64402	D	0.000001	D	0.87799	0.6268	M	0.91038	3.17	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61003	0.882;0.882	D	0.90647	0.4579	10	0.87932	D	0	-18.5418	16.6401	0.85069	0.0:1.0:0.0:0.0	.	2;2	B4DMC0;Q15029	.;U5S1_HUMAN	Y	2	ENSP00000392094:D2Y	ENSP00000262414:D2Y	D	-	1	0	EFTUD2	40327412	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.925000	0.75829	2.450000	0.82876	0.555000	0.69702	GAT		0.403	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		18	562	1	0	1.67942e-08	1	1.75525e-08	18	562				
NOL8	55035	broad.mit.edu	37	9	95073540	95073540	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95073540T>C	ENST00000545558.1	-	8	2852	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	NOL8_ENST00000442668.2_Splice_Site_p.D787G|NOL8_ENST00000542053.1_Splice_Site_p.D719G|NOL8_ENST00000358855.4_Splice_Site_p.D719G|NOL8_ENST00000535387.1_Intron					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGATGACCATCCTAGGGAGG	0.438																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.e8-1		nucleolar protein 8							98.0	86.0	90.0					9																	95073540		1949	4136	6085	SO:0001630	splice_region_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95073540T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000545558.1:c.2359-1A>G	9.37:g.95073540T>C						NOL8_ENST00000358855.4_Splice_Site_p.D719_splice|NOL8_ENST00000442668.2_Splice_Site_p.D787_splice|NOL8_ENST00000535387.1_Intron|NOL8_ENST00000542053.1_Splice_Site_p.D719_splice	p.D787_splice			Q76FK4	NOL8_HUMAN			8	2852	-			787						Splice_Site	SNP	ENST00000545558.1	37	c.2358_splice	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343763	0.61073	.	.	ENSG00000198000	ENST00000442668;ENST00000358855;ENST00000545558;ENST00000542053;ENST00000432670	T;T;T;T;T	0.52754	2.04;2.04;2.04;2.04;0.65	5.12	5.12	0.69794	.	0.099953	0.64402	D	0.000003	T	0.65678	0.2714	M	0.67953	2.075	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.965	T	0.69363	-0.5165	10	0.72032	D	0.01	-18.7307	13.577	0.61879	0.0:0.0:0.0:1.0	.	719;787	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	G	787;719;787;719;787	ENSP00000401177:D787G;ENSP00000351723:D719G;ENSP00000441140:D787G;ENSP00000440709:D719G;ENSP00000414112:D787G	ENSP00000351723:D719G	D	-	2	0	NOL8	94113361	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	3.488000	0.53229	1.941000	0.56285	0.524000	0.50904	GAT		0.438	NOL8-015	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402684.1	NM_017948	Missense_Mutation	27	106	0	0	0	1	0	27	106				
ZMYM4	9202	broad.mit.edu	37	1	35824963	35824963	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35824963C>A	ENST00000314607.6	+	3	603	c.523C>A	c.(523-525)Cta>Ata	p.L175I	ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Missense_Mutation_p.L175I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	175					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAATAGAGACCTAACTTATGA	0.328																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(523-525)Cta>Ata		zinc finger, MYM-type 4							40.0	41.0	40.0					1																	35824963		2193	4292	6485	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35824963C>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.523C>A	1.37:g.35824963C>A	ENSP00000322915:p.Leu175Ile					ZMYM4_ENST00000373297.2_Missense_Mutation_p.L175I|ZMYM4-AS1_ENST00000432683.1_RNA	p.L175I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			3	603	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	175					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.523C>A	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750430	0.15778	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.21932	2.0;1.98	5.54	1.14	0.20703	.	0.811066	0.10649	N	0.650065	T	0.06872	0.0175	N	0.04508	-0.205	0.19945	N	0.99994	B	0.06786	0.001	B	0.01281	0.0	T	0.40478	-0.9561	10	0.07482	T	0.82	-1.1667	2.7633	0.05313	0.3146:0.282:0.3155:0.0879	.	175	Q5VZL5	ZMYM4_HUMAN	I	175	ENSP00000322915:L175I;ENSP00000362394:L175I	ENSP00000322915:L175I	L	+	1	2	ZMYM4	35597550	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.160000	0.16462	0.292000	0.22492	0.650000	0.86243	CTA		0.328	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		17	154	1	0	3.57192e-18	1	3.96073e-18	17	154				
PDK2	5164	broad.mit.edu	37	17	48185696	48185696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48185696C>T	ENST00000503176.1	+	8	937	c.776C>T	c.(775-777)gCg>gTg	p.A259V	PDK2_ENST00000007708.3_Missense_Mutation_p.A195V	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	259	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GCCATGAGGGCGACTGTGGAA	0.587									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(775-777)gCg>gTg		pyruvate dehydrogenase kinase, isozyme 2							80.0	69.0	72.0					17																	48185696		2203	4300	6503	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48185696C>T	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.776C>T	17.37:g.48185696C>T	ENSP00000420927:p.Ala259Val					PDK2_ENST00000007708.3_Missense_Mutation_p.A195V	p.A259V	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			8	937	+			259			Histidine kinase.		A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.776C>T	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330950	0.95733	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614	T;T;T	0.58210	0.35;0.35;0.35	4.61	4.61	0.57282	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.124501	0.53938	D	0.000055	D	0.82582	0.5068	H	0.99011	4.4	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	D	0.90403	0.4404	10	0.87932	D	0	-6.9618	16.633	0.85039	0.0:1.0:0.0:0.0	.	259	Q15119	PDK2_HUMAN	V	195;259;195	ENSP00000007708:A195V;ENSP00000420927:A259V;ENSP00000425265:A195V	ENSP00000007708:A195V	A	+	2	0	PDK2	45540695	1.000000	0.71417	0.471000	0.27229	0.867000	0.49689	7.734000	0.84928	2.289000	0.77006	0.555000	0.69702	GCG		0.587	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		32	113	0	0	0	1	0	32	113				
ATRNL1	26033	broad.mit.edu	37	10	117026306	117026306	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117026306T>C	ENST00000355044.3	+	12	1931	c.1805T>C	c.(1804-1806)gTa>gCa	p.V602A		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	602					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTCTAGTGTACTCCTTAAT	0.333																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1804-1806)gTa>gCa		attractin-like 1							76.0	83.0	80.0					10																	117026306		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117026306T>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1805T>C	10.37:g.117026306T>C	ENSP00000347152:p.Val602Ala						p.V602A	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	12	1931	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	602					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1805T>C	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975012	0.53720	.	.	ENSG00000107518	ENST00000355044	T	0.29397	1.57	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.053328	0.64402	D	0.000001	T	0.26557	0.0649	L	0.36672	1.1	0.80722	D	1	B	0.26975	0.165	B	0.28385	0.089	T	0.05632	-1.0873	10	0.16896	T	0.51	-20.4802	16.0865	0.81056	0.0:0.0:0.0:1.0	.	602	Q5VV63	ATRN1_HUMAN	A	602	ENSP00000347152:V602A	ENSP00000347152:V602A	V	+	2	0	ATRNL1	117016296	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.782000	0.68973	2.194000	0.70268	0.377000	0.23210	GTA		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		13	369	0	0	0	1	0	13	369				
ZNF10	7556	broad.mit.edu	37	12	133732818	133732818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133732818C>A	ENST00000248211.6	+	5	1208	c.986C>A	c.(985-987)tCc>tAc	p.S329Y	ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGTGGAAAATCCTTCAGCTGG	0.413																																						ENST00000248211.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(985-987)tCc>tAc		zinc finger protein 10							97.0	104.0	102.0					12																	133732818		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732818C>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.986C>A	12.37:g.133732818C>A	ENSP00000248211:p.Ser329Tyr					CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y	p.S329Y	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1208	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	329					B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.986C>A	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370099	0.24771	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.51574	0.7;0.7;3.1	3.92	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.902656	0.09051	N	0.855773	T	0.44222	0.1283	L	0.54323	1.7	0.19300	N	0.999971	B	0.30664	0.289	B	0.30401	0.115	T	0.34625	-0.9821	9	.	.	.	.	12.4812	0.55844	0.0:0.3598:0.6402:0.0	.	329	P21506	ZNF10_HUMAN	Y	329;329;195	ENSP00000248211:S329Y;ENSP00000393814:S329Y;ENSP00000384893:S195Y	.	S	+	2	0	ZNF10	132242891	0.000000	0.05858	0.298000	0.25002	0.978000	0.69477	0.657000	0.24963	0.917000	0.36895	0.655000	0.94253	TCC		0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		79	371	1	0	3.12118e-38	1	3.75939e-38	79	371				
AK7	122481	broad.mit.edu	37	14	96871122	96871122	+	Missense_Mutation	SNP	G	G	A	rs373883064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96871122G>A	ENST00000267584.4	+	3	367	c.323G>A	c.(322-324)cGc>cAc	p.R108H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	108					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCATGCGCCTGCTGGAG	0.433																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(322-324)cGc>cAc		adenylate kinase 7							93.0	87.0	89.0					14																	96871122		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96871122G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.323G>A	14.37:g.96871122G>A	ENSP00000267584:p.Arg108His					AK7_ENST00000554313.1_3'UTR	p.R108H	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	3	367	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	108					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.323G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	2.046	-0.418996	0.04766	.	.	ENSG00000140057	ENST00000267584	T	0.46451	0.87	5.35	-1.88	0.07713	.	0.693376	0.14912	N	0.291158	T	0.21145	0.0509	N	0.16098	0.37	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.12430	T	0.62	-5.7225	11.7457	0.51819	0.4671:0.0:0.5329:0.0	.	108	Q96M32	KAD7_HUMAN	H	108	ENSP00000267584:R108H	ENSP00000267584:R108H	R	+	2	0	AK7	95940875	0.000000	0.05858	0.003000	0.11579	0.155000	0.21991	-0.006000	0.12833	-0.217000	0.10033	0.467000	0.42956	CGC		0.433	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			38	189	0	0	0	1	0	38	189				
ERC1	23085	broad.mit.edu	37	12	1291225	1291225	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1291225G>A	ENST00000397203.2	+	10	2416	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000360905.4_Silent_p.E670E|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Silent_p.E670E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	670					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACCTTTCAGAGAAAGAGGTTA	0.363																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2008-2010)gaG>gaA		ELKS/RAB6-interacting/CAST family member 1							54.0	56.0	55.0					12																	1291225		2203	4300	6503	SO:0001819	synonymous_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1291225G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2010G>A	12.37:g.1291225G>A						ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000355446.5_Silent_p.E670E|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Silent_p.E670E	p.E670E			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		10	2416	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		670					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Silent	SNP	ENST00000397203.2	37	c.2010G>A	CCDS8508.1																																																																																				0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		14	152	0	0	0	1	0	14	152				
VPS33B	26276	broad.mit.edu	37	15	91548319	91548319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91548319C>T	ENST00000333371.3	-	15	1489	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N|VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	379					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCTGGTGCTCTCCCGGAT	0.567																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(1135-1137)aGc>aAc		vacuolar protein sorting 33 homolog B (yeast)							111.0	99.0	103.0					15																	91548319		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91548319C>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1136G>A	15.37:g.91548319C>T	ENSP00000327650:p.Ser379Asn					VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N|VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N	p.S379N	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			15	1489	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		379					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.1136G>A	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742781	0.69418	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.76578	-1.03;-1.03;-1.03	6.04	6.04	0.98038	.	0.124870	0.85682	D	0.000000	T	0.72661	0.3488	L	0.46157	1.445	0.50313	D	0.999867	B;B	0.15719	0.011;0.014	B;B	0.15870	0.008;0.014	T	0.65508	-0.6151	10	0.17369	T	0.5	-21.0209	18.3522	0.90342	0.0:1.0:0.0:0.0	.	352;379	F5H008;Q9H267	.;VP33B_HUMAN	N	379;352;288;334	ENSP00000327650:S379N;ENSP00000444053:S352N;ENSP00000446267:S288N	ENSP00000327650:S379N	S	-	2	0	VPS33B	89349323	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.517000	0.73759	2.873000	0.98535	0.561000	0.74099	AGC		0.567	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		51	304	0	0	0	1	0	51	304				
EIF4G3	8672	broad.mit.edu	37	1	21307591	21307591	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21307591G>T	ENST00000264211.8	-	3	354	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000602326.1_Missense_Mutation_p.L61M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	54					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L54L(1)|p.L61L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGCATGGGCAGATGGTTAACC	0.517																																						ENST00000602326.1																			2	Substitution - coding silent(2)	p.L54L(1)|p.L61L(1)	urinary_tract(2)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(181-183)Ctg>Atg		eukaryotic translation initiation factor 4 gamma, 3							128.0	107.0	114.0					1																	21307591		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21307591G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.160C>A	1.37:g.21307591G>T	ENSP00000264211:p.Leu54Met					EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.L54M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M	p.L61M	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	7	764	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	54					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.181C>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551763	0.65311	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.83	4.92	0.64577	.	0.163224	0.41938	D	0.000784	T	0.40347	0.1113	L	0.36672	1.1	0.46542	D	0.999097	D;D;D;D;D;D	0.89917	1.0;0.999;0.978;1.0;0.999;0.998	D;D;P;D;D;D	0.91635	0.999;0.997;0.758;0.998;0.997;0.915	T	0.11131	-1.0600	10	0.33141	T	0.24	-7.9326	14.8028	0.69929	0.0693:0.0:0.9307:0.0	.	54;250;54;180;61;54	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	M	54;251;54;54;61;180;54;65;54;92	ENSP00000264211:L54M;ENSP00000383274:L54M;ENSP00000364071:L54M;ENSP00000364073:L61M;ENSP00000364062:L54M;ENSP00000395381:L54M;ENSP00000396083:L92M	ENSP00000264211:L54M	L	-	1	2	EIF4G3	21180178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.480000	0.60243	1.464000	0.47987	0.555000	0.69702	CTG		0.517	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		14	356	1	0	7.93312e-07	1	8.20014e-07	14	356				
CBLL1	79872	broad.mit.edu	37	7	107399574	107399574	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107399574C>A	ENST00000440859.3	+	6	1894	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	476	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCCCACTTCCTGGACCACAT	0.463																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1426-1428)cCt>cAt		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							133.0	140.0	138.0					7																	107399574		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399574C>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1427C>A	7.37:g.107399574C>A	ENSP00000401277:p.Pro476His					CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	p.P476H	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1894	+			476			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.1427C>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	c	16.90	3.250236	0.59212	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000417616	T;T	0.37411	1.2;1.2	5.15	4.26	0.50523	.	0.057309	0.64402	D	0.000001	T	0.43787	0.1263	L	0.56769	1.78	0.24350	N	0.99493	D;D	0.53885	0.963;0.963	P;P	0.49140	0.601;0.601	T	0.40794	-0.9544	10	0.87932	D	0	-1.7142	13.4661	0.61254	0.0:0.9239:0.0:0.0761	.	475;476	B7ZM03;Q75N03	.;HAKAI_HUMAN	H	476;355;475;267	ENSP00000401277:P476H;ENSP00000222597:P475H	ENSP00000222597:P475H	P	+	2	0	CBLL1	107186810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	1.172000	0.42781	0.441000	0.28932	CCT		0.463	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		123	561	1	0	8.33822e-44	1	1.01909e-43	123	561				
QDPR	5860	broad.mit.edu	37	4	17510920	17510920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17510920C>T	ENST00000281243.5	-	2	351	c.172G>A	c.(172-174)Gac>Aac	p.D58N	QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000508623.1_Missense_Mutation_p.D58N|QDPR_ENST00000428702.2_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	58					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						GTGAACGAGTCTGTCATTTTA	0.512																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(172-174)Gac>Aac		quinoid dihydropteridine reductase	NADH(DB00157)						121.0	103.0	109.0					4																	17510920		2203	4300	6503	SO:0001583	missense	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17510920C>T	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.172G>A	4.37:g.17510920C>T	ENSP00000281243:p.Asp58Asn					QDPR_ENST00000508623.1_Missense_Mutation_p.D58N|QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000428702.2_Intron	p.D58N	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			2	351	-			58					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.172G>A	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992680	0.54041	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000508623	D;D;D	0.95949	-3.46;-3.86;-3.46	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.172007	0.49916	D	0.000135	D	0.93122	0.7810	L	0.45581	1.43	0.58432	D	0.999999	B	0.10296	0.003	B	0.13407	0.009	D	0.89649	0.3868	10	0.17832	T	0.49	-14.759	19.0666	0.93114	0.0:1.0:0.0:0.0	.	58	P09417	DHPR_HUMAN	N	58	ENSP00000422759:D58N;ENSP00000281243:D58N;ENSP00000426377:D58N	ENSP00000281243:D58N	D	-	1	0	QDPR	17120018	1.000000	0.71417	0.914000	0.36105	0.034000	0.12701	6.759000	0.74934	2.585000	0.87301	0.655000	0.94253	GAC		0.512	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		36	169	0	0	0	1	0	36	169				
TCF7L2	6934	broad.mit.edu	37	10	114918429	114918429	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114918429A>G	ENST00000355995.4	+	13	1829	c.1322A>G	c.(1321-1323)cAc>cGc	p.H441R	TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	441					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTTTCAGAACACAGCGAATGT	0.338			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1321-1323)cAc>cGc		transcription factor 7-like 2 (T-cell specific, HMG-box)							101.0	97.0	98.0					10																	114918429		2202	4299	6501	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114918429A>G	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1322A>G	10.37:g.114918429A>G	ENSP00000348274:p.His441Arg					TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R	p.H441R			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	13	1829	+		Breast(234;0.058)|Colorectal(252;0.0615)	441					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1322A>G		.	.	.	.	.	.	.	.	.	.	a	8.094	0.775101	0.16051	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695	D;D;D;D;D;D;D	0.99150	-4.91;-4.91;-5.49;-5.49;-4.91;-5.48;-4.93	5.67	5.67	0.87782	.	0.113107	0.64402	D	0.000020	D	0.98830	0.9605	L	0.53249	1.67	0.80722	D	1	P;B;B;B;P;B;D;D;B;D;B;D	0.58970	0.932;0.0;0.0;0.0;0.932;0.0;0.973;0.984;0.0;0.973;0.013;0.973	P;B;B;B;P;B;D;D;B;D;B;D	0.69479	0.84;0.0;0.0;0.001;0.888;0.001;0.921;0.964;0.0;0.921;0.014;0.921	D	0.99795	1.1033	10	0.25751	T	0.34	-14.8426	15.9154	0.79512	1.0:0.0:0.0:0.0	.	298;258;340;441;312;356;414;418;418;423;414;418	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;C6ZRK1;C6ZRJ7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.	R	441;441;441;441;418;418;157	ENSP00000348274:H441R;ENSP00000440547:H441R;ENSP00000446172:H441R;ENSP00000443626:H441R;ENSP00000358404:H418R;ENSP00000344823:H418R;ENSP00000443883:H157R	ENSP00000344823:H418R	H	+	2	0	TCF7L2	114908419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.998000	0.76277	2.178000	0.69098	0.533000	0.62120	CAC		0.338	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		54	256	0	0	0	1	0	54	256				
COL24A1	255631	broad.mit.edu	37	1	86591325	86591325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86591325C>T	ENST00000370571.2	-	3	1060	c.694G>A	c.(694-696)Gca>Aca	p.A232T	COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	232					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTAGTCTGCAGATGCTTCT	0.363																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(694-696)Gca>Aca		collagen, type XXIV, alpha 1							60.0	59.0	59.0					1																	86591325		1961	4155	6116	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591325C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.694G>A	1.37:g.86591325C>T	ENSP00000359603:p.Ala232Thr					COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	p.A232T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1060	-			232					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.694G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963121	0.34659	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02177	4.41;4.41	5.82	1.28	0.21552	Concanavalin A-like lectin/glucanase (1);	0.451445	0.16444	N	0.214147	T	0.00695	0.0023	L	0.39147	1.195	0.36043	D	0.840222	P;B	0.43287	0.802;0.068	B;B	0.36959	0.237;0.022	T	0.64516	-0.6389	10	0.27785	T	0.31	.	4.8693	0.13624	0.4501:0.3586:0.1216:0.0697	.	232;232	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	232	ENSP00000359603:A232T;ENSP00000392531:A232T	ENSP00000359603:A232T	A	-	1	0	COL24A1	86363913	0.995000	0.38212	0.984000	0.44739	0.694000	0.40290	0.403000	0.20982	-0.042000	0.13535	0.655000	0.94253	GCA		0.363	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		63	211	0	0	0	1	0	63	211				
PLEKHH2	130271	broad.mit.edu	37	2	43970029	43970029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43970029C>T	ENST00000282406.4	+	22	3481	c.3371C>T	c.(3370-3372)cCt>cTt	p.P1124L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1124	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTAGTATACCTGTGCACTTC	0.413																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3370-3372)cCt>cTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							163.0	147.0	152.0					2																	43970029		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43970029C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3371C>T	2.37:g.43970029C>T	ENSP00000282406:p.Pro1124Leu						p.P1124L	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			22	3481	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1124			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3371C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805841	0.90623	.	.	ENSG00000152527	ENST00000282406	T	0.74526	-0.85	5.3	5.3	0.74995	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89272	0.3605	10	0.72032	D	0.01	-20.4487	18.9515	0.92643	0.0:1.0:0.0:0.0	.	1124	Q8IVE3	PKHH2_HUMAN	L	1124	ENSP00000282406:P1124L	ENSP00000282406:P1124L	P	+	2	0	PLEKHH2	43823533	1.000000	0.71417	0.872000	0.34217	0.872000	0.50106	7.487000	0.81328	2.459000	0.83118	0.563000	0.77884	CCT		0.413	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		14	424	0	0	0	1	0	14	424				
EXT2	2132	broad.mit.edu	37	11	44148421	44148421	+	Missense_Mutation	SNP	G	G	T	rs148493676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44148421G>T	ENST00000343631.3	+	6	1124	c.995G>T	c.(994-996)aGc>aTc	p.S332I	EXT2_ENST00000533608.1_Missense_Mutation_p.S332I|EXT2_ENST00000358681.4_Missense_Mutation_p.S332I|EXT2_ENST00000395673.3_Missense_Mutation_p.S365I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	332					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCAGTATTGAGCGATGTGTTA	0.493			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1093-1095)aGc>aTc		exostosin glycosyltransferase 2							301.0	274.0	283.0					11																	44148421		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44148421G>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.995G>T	11.37:g.44148421G>T	ENSP00000342656:p.Ser332Ile					EXT2_ENST00000533608.1_Missense_Mutation_p.S332I|EXT2_ENST00000358681.4_Missense_Mutation_p.S332I|EXT2_ENST00000343631.3_Missense_Mutation_p.S332I	p.S365I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			6	1150	+			332					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1094G>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736694	0.49045	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	L	0.35593	1.075	0.80722	D	1	D;B;B;B;B	0.53619	0.961;0.127;0.104;0.21;0.21	P;B;B;B;B	0.55508	0.777;0.173;0.108;0.042;0.042	D	0.95629	0.8688	10	0.32370	T	0.25	-23.4442	19.9598	0.97242	0.0:0.0:1.0:0.0	.	332;332;332;332;345	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	332;332;365;332	ENSP00000431173:S332I;ENSP00000351509:S332I;ENSP00000379032:S365I;ENSP00000342656:S332I	ENSP00000342656:S332I	S	+	2	0	EXT2	44104997	1.000000	0.71417	0.994000	0.49952	0.356000	0.29392	9.731000	0.98807	2.716000	0.92895	0.655000	0.94253	AGC		0.493	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		14	904	1	0	1.49906e-05	1	1.53515e-05	14	904				
CDADC1	81602	broad.mit.edu	37	13	49841720	49841720	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49841720A>C	ENST00000251108.6	+	5	638	c.525A>C	c.(523-525)aaA>aaC	p.K175N	CDADC1_ENST00000444959.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	175							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TAGATGCCAAAGCAGTGGAAA	0.433																																						ENST00000251108.6																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(523-525)aaA>aaC		cytidine and dCMP deaminase domain containing 1							114.0	108.0	110.0					13																	49841720		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49841720A>C	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.525A>C	13.37:g.49841720A>C	ENSP00000251108:p.Lys175Asn					CDADC1_ENST00000444959.1_5'UTR	p.K175N	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	5	638	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	175					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.525A>C	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670556	0.67814	.	.	ENSG00000102543	ENST00000251108	.	.	.	5.53	5.53	0.82687	Cytidine deaminase-like (1);	0.222920	0.49305	D	0.000154	T	0.60728	0.2291	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.59487	0.858;0.798	T	0.65990	-0.6034	9	0.87932	D	0	-24.7287	15.1388	0.72595	1.0:0.0:0.0:0.0	.	175;175	Q9BWV3;B2R742	CDAC1_HUMAN;.	N	175	.	ENSP00000251108:K175N	K	+	3	2	CDADC1	48739721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.576000	0.46033	2.219000	0.72066	0.533000	0.62120	AAA		0.433	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		41	329	0	0	0	1	0	41	329				
GATAD2A	54815	broad.mit.edu	37	19	19609351	19609351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19609351G>A	ENST00000360315.3	+	8	1336	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	GATAD2A_ENST00000404158.1_Missense_Mutation_p.A342T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T|GATAD2A_ENST00000537887.1_5'UTR	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	342	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGAGTCTCCAGCAAGCCGACA	0.647																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1024-1026)Gca>Aca		GATA zinc finger domain containing 2A							32.0	37.0	35.0					19																	19609351		2203	4299	6502	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19609351G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1024G>A	19.37:g.19609351G>A	ENSP00000353463:p.Ala342Thr					GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000360315.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T	p.A342T			Q86YP4	P66A_HUMAN			10	1442	+			342					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1024G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472267	0.84533	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.58210	0.98;0.86;0.98;0.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.74290	-0.3713	9	.	.	.	-12.9224	18.3542	0.90351	0.0:0.0:1.0:0.0	.	169;361;342	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	342;342;361;342;169	ENSP00000353463:A342T;ENSP00000252577:A342T;ENSP00000351552:A342T;ENSP00000388416:A169T	.	A	+	1	0	GATAD2A	19470351	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.775000	0.98995	2.691000	0.91804	0.650000	0.86243	GCA		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		68	220	0	0	0	1	0	68	220				
LRRC6	23639	broad.mit.edu	37	8	133645086	133645086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133645086C>T	ENST00000519595.1	-	5	651	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	LRRC6_ENST00000518642.1_Missense_Mutation_p.E185K|LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	185					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAGCCTCTTCCTTGAGTTTG	0.423																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(553-555)Gaa>Aaa		leucine rich repeat containing 6							318.0	283.0	295.0					8																	133645086		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133645086C>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.553G>A	8.37:g.133645086C>T	ENSP00000429791:p.Glu185Lys					LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Missense_Mutation_p.E185K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K	p.E185K			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	651	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		185					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.553G>A		.	.	.	.	.	.	.	.	.	.	C	12.30	1.895431	0.33442	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.56275	0.63;0.47;0.63	5.23	3.44	0.39384	.	0.437579	0.26514	N	0.023948	T	0.36936	0.0985	L	0.28192	0.835	0.36467	D	0.867013	B	0.24368	0.102	B	0.20184	0.028	T	0.30001	-0.9993	10	0.29301	T	0.29	-12.1542	10.9021	0.47058	0.0:0.8472:0.0:0.1528	.	185	Q86X45	LRRC6_HUMAN	K	185	ENSP00000429791:E185K;ENSP00000428610:E185K;ENSP00000250173:E185K	ENSP00000250173:E185K	E	-	1	0	LRRC6	133714268	1.000000	0.71417	0.989000	0.46669	0.500000	0.33767	2.502000	0.45398	0.705000	0.31890	0.555000	0.69702	GAA		0.423	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		145	708	0	0	0	1	0	145	708				
ROBO1	6091	broad.mit.edu	37	3	78676482	78676482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78676482C>A	ENST00000464233.1	-	26	3977	c.3864G>T	c.(3862-3864)caG>caT	p.Q1288H	ROBO1_ENST00000436010.2_Missense_Mutation_p.Q1249H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1288					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCCTGTCGGGCTGGTGCTGCA	0.488																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3745-3747)caG>caT		roundabout, axon guidance receptor, homolog 1 (Drosophila)							48.0	54.0	52.0					3																	78676482		2154	4260	6414	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78676482C>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3864G>T	3.37:g.78676482C>A	ENSP00000420321:p.Gln1288His					ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q1288H	p.Q1249H			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	24	4744	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1288					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3747G>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	3.600	-0.081801	0.07141	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.61392	0.13;0.11;0.11;0.13	5.08	-8.7	0.00851	.	0.407517	0.29383	N	0.012309	T	0.33177	0.0854	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.13407	0.0;0.0;0.0;0.0;0.009	T	0.17228	-1.0376	9	.	.	.	.	12.3366	0.55071	0.0979:0.5823:0.0:0.3199	.	1252;1288;1243;1188;1249	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1249;1243;1288;1243;1188;1292	ENSP00000406043:Q1249H;ENSP00000420321:Q1288H;ENSP00000420637:Q1243H;ENSP00000417992:Q1188H	.	Q	-	3	2	ROBO1	78759172	0.000000	0.05858	0.012000	0.15200	0.161000	0.22273	-2.170000	0.01268	-1.238000	0.02535	-0.340000	0.08031	CAG		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		12	86	1	0	0.00185496	1	0.00187281	12	86				
EIF3A	8661	broad.mit.edu	37	10	120830529	120830529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120830529G>A	ENST00000369144.3	-	5	737	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TGCGATAAGTGCATTCTCAAA	0.398																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(610-612)Cac>Tac		eukaryotic translation initiation factor 3, subunit A							152.0	138.0	143.0					10																	120830529		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120830529G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.610C>T	10.37:g.120830529G>A	ENSP00000358140:p.His204Tyr					EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y|EIF3A_ENST00000478852.1_Intron	p.H204Y	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	5	737	-		Lung NSC(174;0.094)|all_lung(145;0.123)	204					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.610C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244668	0.79912	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.41400	1.0;1.0	5.69	5.69	0.88448	.	0.000000	0.40908	D	0.000981	T	0.74038	0.3664	M	0.92784	3.345	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.80243	-0.1463	10	0.87932	D	0	-24.562	19.813	0.96554	0.0:0.0:1.0:0.0	.	204	Q14152	EIF3A_HUMAN	Y	204;170	ENSP00000358140:H204Y;ENSP00000438178:H170Y	ENSP00000358140:H204Y	H	-	1	0	EIF3A	120820519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.683000	0.91414	0.591000	0.81541	CAC		0.398	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		62	241	0	0	0	1	0	62	241				
SLC15A3	51296	broad.mit.edu	37	11	60705372	60705372	+	Missense_Mutation	SNP	C	C	T	rs533865798		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60705372C>T	ENST00000227880.3	-	7	1794	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	521					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCCAGCCCCCGGGCAAGGAC	0.637																																						ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(1561-1563)Ggg>Agg		solute carrier family 15 (oligopeptide transporter), member 3							48.0	47.0	47.0					11																	60705372		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60705372C>T	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1561G>A	11.37:g.60705372C>T	ENSP00000227880:p.Gly521Arg						p.G521R	NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN			7	1794	-			521					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.1561G>A	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	C	3.690	-0.063654	0.07273	.	.	ENSG00000110446	ENST00000536784;ENST00000227880	T	0.59364	0.27	5.08	-0.155	0.13395	Major facilitator superfamily domain, general substrate transporter (1);	0.602516	0.16041	N	0.232412	T	0.44498	0.1296	M	0.65320	2	0.09310	N	1	B	0.23490	0.086	B	0.15484	0.013	T	0.31280	-0.9949	10	0.36615	T	0.2	-9.8456	2.0854	0.03645	0.1237:0.4217:0.2409:0.2136	.	521	Q8IY34	S15A3_HUMAN	R	29;521	ENSP00000227880:G521R	ENSP00000227880:G521R	G	-	1	0	SLC15A3	60461948	0.000000	0.05858	0.002000	0.10522	0.239000	0.25481	-0.135000	0.10420	-0.108000	0.12066	-0.137000	0.14449	GGG		0.637	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		36	160	0	0	0	1	0	36	160				
RPA1	6117	broad.mit.edu	37	17	1780550	1780550	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1780550C>T	ENST00000254719.5	+	8	742	c.632C>T	c.(631-633)aCc>aTc	p.T211I	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	211					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CAGATCCGTACCTGGAGCAAC	0.493								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(631-633)aCc>aTc	Nucleotide excision repair (NER)	replication protein A1, 70kDa							145.0	113.0	124.0					17																	1780550		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1780550C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.632C>T	17.37:g.1780550C>T	ENSP00000254719:p.Thr211Ile					RPA1_ENST00000573924.1_3'UTR	p.T211I	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			8	742	+			211					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.632C>T	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994189	0.93167	.	.	ENSG00000132383	ENST00000254719	T	0.51325	0.71	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81856	-0.0740	10	0.54805	T	0.06	-25.4334	20.4366	0.99092	0.0:1.0:0.0:0.0	.	211	P27694	RFA1_HUMAN	I	211	ENSP00000254719:T211I	ENSP00000254719:T211I	T	+	2	0	RPA1	1727300	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.456000	0.80751	2.837000	0.97791	0.591000	0.81541	ACC		0.493	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		40	188	0	0	0	1	0	40	188				
LMTK2	22853	broad.mit.edu	37	7	97823515	97823515	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823515C>T	ENST00000297293.5	+	11	4031	c.3738C>T	c.(3736-3738)tcC>tcT	p.S1246S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1246					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGGACAAGTCCCTGTCCAGCC	0.602																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3736-3738)tcC>tcT		lemur tyrosine kinase 2							47.0	51.0	49.0					7																	97823515		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823515C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3738C>T	7.37:g.97823515C>T							p.S1246S	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	4031	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1246					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3738C>T	CCDS5654.1																																																																																				0.602	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		42	175	0	0	0	1	0	42	175				
BCHE	590	broad.mit.edu	37	3	165547486	165547486	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165547486A>C	ENST00000264381.3	-	2	1502	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	446			F -> S (in BChE deficiency). {ECO:0000269|PubMed:7634491, ECO:0000269|PubMed:9191541}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAATAGTAGAAAAAGGCATTA	0.438																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1336-1338)Ttc>Gtc		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						99.0	104.0	102.0					3																	165547486		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547486A>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1336T>G	3.37:g.165547486A>C	ENSP00000264381:p.Phe446Val					BCHE_ENST00000540653.1_Intron	p.F446V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1502	-			446		F -> S (in BChE deficiency).			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1336T>G	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	8.862	0.947231	0.18356	.	.	ENSG00000114200	ENST00000264381	T	0.67171	-0.25	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.082823	0.64402	D	0.000001	T	0.50803	0.1637	N	0.13043	0.29	0.80722	D	1	B	0.14438	0.01	B	0.22601	0.04	T	0.45425	-0.9262	10	0.25106	T	0.35	.	14.8209	0.70070	1.0:0.0:0.0:0.0	.	446	P06276	CHLE_HUMAN	V	446	ENSP00000264381:F446V	ENSP00000264381:F446V	F	-	1	0	BCHE	167030180	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.997000	0.49457	2.105000	0.64084	0.482000	0.46254	TTC		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			95	511	0	0	0	1	0	95	511				
NOP58	51602	broad.mit.edu	37	2	203149180	203149180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203149180C>T	ENST00000264279.5	+	5	636	c.410C>T	c.(409-411)gCt>gTt	p.A137V	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	137					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAAATGGCAGCTATGTGTCTT	0.378																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(409-411)gCt>gTt		NOP58 ribonucleoprotein							126.0	118.0	121.0					2																	203149180		2203	4300	6503	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203149180C>T		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.410C>T	2.37:g.203149180C>T	ENSP00000264279:p.Ala137Val					NOP58_ENST00000467734.1_3'UTR	p.A137V	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			5	636	+			137					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.410C>T	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710497	0.89018	.	.	ENSG00000055044	ENST00000264279	T	0.61392	0.11	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.76328	2.33	0.80722	D	1	D;P	0.54601	0.967;0.648	P;B	0.54346	0.749;0.36	T	0.70189	-0.4940	10	0.35671	T	0.21	-3.5345	19.2052	0.93728	0.0:1.0:0.0:0.0	.	137;137	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	V	137	ENSP00000264279:A137V	ENSP00000264279:A137V	A	+	2	0	NOP58	202857425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.591000	0.87537	0.655000	0.94253	GCT		0.378	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		12	508	0	0	0	1	0	12	508				
KIAA1598	57698	broad.mit.edu	37	10	118645867	118645867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118645867G>A	ENST00000355371.4	-	17	2381	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	KIAA1598_ENST00000392903.2_Intron|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_3'UTR|ENO4_ENST00000369207.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	628					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGCAGTTGGAGCTGTCTGTCT	0.413																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(1882-1884)agC>agT		KIAA1598							278.0	206.0	228.0					10																	118645867		692	1591	2283	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118645867G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1884C>T	10.37:g.118645867G>A						KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Intron|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000260777.10_3'UTR	p.S628S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	17	2381	-			628					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.1884C>T	CCDS44482.1																																																																																				0.413	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		4	21	0	0	0	1	0	4	21				
OPRM1	4988	broad.mit.edu	37	6	154412127	154412127	+	Missense_Mutation	SNP	G	G	T	rs371412870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154412127G>T	ENST00000330432.7	+	3	921	c.684G>T	c.(682-684)tgG>tgT	p.W228C	OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000414028.2_Missense_Mutation_p.W228C|OPRM1_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	228					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATCCAACCTGGTACTGGGAAA	0.398																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(682-684)tgG>tgT		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						197.0	179.0	185.0					6																	154412127		1962	4177	6139	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412127G>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.684G>T	6.37:g.154412127G>T	ENSP00000328264:p.Trp228Cys					OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000330432.7_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C|OPRM1_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C	p.W228C	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	734	+		Ovarian(120;0.196)	228					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.684G>T	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503709	0.64298	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;0.997;0.98;0.946;0.998;0.997;0.998;0.997;0.993	D;P;P;D;D;D;P;D;D;D;D;P	0.91635	0.999;0.887;0.887;0.999;0.936;0.932;0.886;0.936;0.932;0.927;0.936;0.887	T	0.52689	-0.8542	10	0.39692	T	0.17	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	228;228;228;228;321;147;128;228;228;228;228;228	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	C	321;128;147;228;228;228;228;228;228;228;228;228;228;128;128	ENSP00000394624:W321C;ENSP00000430876:W128C;ENSP00000430260:W147C;ENSP00000328264:W228C;ENSP00000353598:W228C;ENSP00000411903:W228C;ENSP00000410497:W228C;ENSP00000229768:W228C;ENSP00000403549:W228C;ENSP00000430097:W228C;ENSP00000399359:W228C;ENSP00000413752:W228C;ENSP00000338381:W228C;ENSP00000429719:W128C;ENSP00000429373:W128C	ENSP00000229768:W228C	W	+	3	0	OPRM1	154453820	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	TGG		0.398	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		117	570	1	0	1.81975e-59	1	2.28519e-59	117	570				
CYP4F2	8529	broad.mit.edu	37	19	15997079	15997079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15997079C>A	ENST00000221700.6	-	8	1053	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAGCTTCTGCTCTTATGTCC	0.557																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(958-960)Gca>Tca		cytochrome P450, family 4, subfamily F, polypeptide 2							207.0	211.0	210.0					19																	15997079		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15997079C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.958G>T	19.37:g.15997079C>A	ENSP00000221700:p.Ala320Ser					CYP4F2_ENST00000592328.1_Missense_Mutation_p.A320S|CYP4F2_ENST00000011989.7_Intron	p.A320S	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			8	1053	-			320						Missense_Mutation	SNP	ENST00000221700.6	37	c.958G>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	17.59	3.427758	0.62733	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.71934	-0.61	2.73	2.73	0.32206	.	0.000000	0.64402	U	0.000006	T	0.80768	0.4686	M	0.69523	2.12	0.49299	D	0.999777	D	0.76494	0.999	D	0.81914	0.995	T	0.82456	-0.0448	10	0.72032	D	0.01	.	11.1798	0.48620	0.0:1.0:0.0:0.0	.	320	P78329	CP4F2_HUMAN	S	320;171	ENSP00000221700:A320S	ENSP00000221700:A320S	A	-	1	0	CYP4F2	15858079	0.999000	0.42202	0.917000	0.36280	0.680000	0.39746	4.503000	0.60407	1.500000	0.48636	0.313000	0.20887	GCA		0.557	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		292	1286	1	0	7.85725e-59	1	9.86004e-59	292	1286				
USP41	373856	broad.mit.edu	37	22	20721016	20721016	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20721016C>T	ENST00000454608.2	-	10	731	c.732G>A	c.(730-732)aaG>aaA	p.K244K	USP41_ENST00000486536.2_5'UTR			Q3LFD5	UBP41_HUMAN	ubiquitin specific peptidase 41	244	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(1)|kidney(1)|lung(2)|skin(1)	5						AATGGGTCAGCTTCAAGACCT	0.483																																						ENST00000454608.2																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(730-732)aaG>aaA		ubiquitin specific peptidase 41																																				SO:0001819	synonymous_variant	373856							g.chr22:20721016C>T	AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133		"""Ubiquitin-specific peptidases"""	20070	protein-coding gene	gene with protein product			"""ubiquitin specific protease 41"""			12838346	Standard	XM_006710116		Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.732G>A	22.37:g.20721016C>T						USP41_ENST00000486536.2_5'UTR	p.K244K							10	731	-								A8MXD0|Q70BM7	Silent	SNP	ENST00000454608.2	37	c.732G>A		.	.	.	.	.	.	.	.	.	.	-	10.56	1.385812	0.25031	.	.	ENSG00000161133	ENST00000292729	.	.	.	0.302	0.302	0.15786	.	.	.	.	.	T	0.41419	0.1158	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50923	-0.8770	2	.	.	.	.	.	.	.	.	.	.	.	N	192	.	.	S	-	2	0	USP41	19051016	0.118000	0.22208	0.859000	0.33776	0.861000	0.49209	0.069000	0.14552	0.427000	0.26145	0.434000	0.28630	AGC		0.483	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		XM_036729		95	453	0	0	0	1	0	95	453				
TTN	7273	broad.mit.edu	37	2	179497134	179497134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179497134C>A	ENST00000591111.1	-	186	38788	c.38564G>T	c.(38563-38565)cGg>cTg	p.R12855L	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R14496L|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12855					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)			GAATTTGAGCCGGATTCCTAT	0.343																																						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.(43486-43488)cGg>cTg		titin							52.0	46.0	48.0					2																	179497134		1828	4072	5900	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497134C>A	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.38564G>T	2.37:g.179497134C>A	ENSP00000465570:p.Arg12855Leu					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R12855L	p.R14496L	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)		236	43711	-			12855			Fibronectin type-III 4.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.43487G>T		.	.	.	.	.	.	.	.	.	.	C	12.20	1.866084	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	6.1	6.1	0.99115	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86690	0.5993	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	D	0.86400	0.1741	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	5431;5556;5623;12855	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11928;5431;5623;5556;5431	ENSP00000343764:R11928L;ENSP00000434586:R5431L;ENSP00000340554:R5623L;ENSP00000352154:R5556L	ENSP00000340554:R5623L	R	-	2	0	TTN	179205379	1.000000	0.71417	0.978000	0.43139	0.408000	0.30992	7.768000	0.85345	2.902000	0.99343	0.650000	0.86243	CGG		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	54	1	0	4.96729e-08	1	5.17613e-08	20	54				
KLHL30	377007	broad.mit.edu	37	2	239049856	239049856	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239049856C>A	ENST00000409223.1	+	2	568	c.461C>A	c.(460-462)gCc>gAc	p.A154D	KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	154	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGCCAAGGCCTGGGCCTTC	0.657																																						ENST00000409223.1																			0				lung(4)	4						c.(460-462)gCc>gAc		kelch-like family member 30							19.0	25.0	23.0					2																	239049856		2140	4245	6385	SO:0001583	missense	377007							g.chr2:239049856C>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.461C>A	2.37:g.239049856C>A	ENSP00000386389:p.Ala154Asp					KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D	p.A154D			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	568	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	154			BACK.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.461C>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	c	29.7	5.027365	0.93518	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.73469	-0.75;-0.75	5.65	5.65	0.86999	BTB/Kelch-associated (2);	0.056170	0.64402	D	0.000001	D	0.90147	0.6921	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92233	0.5794	10	0.87932	D	0	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	154	Q0D2K2	KLH30_HUMAN	D	154;136	ENSP00000386389:A154D;ENSP00000302386:A136D	ENSP00000302386:A136D	A	+	2	0	KLHL30	238714595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.647000	0.83462	2.671000	0.90904	0.651000	0.88453	GCC		0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		33	155	1	0	6.05902e-23	1	6.8732e-23	33	155				
ZC3H14	79882	broad.mit.edu	37	14	89044479	89044479	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89044479A>G	ENST00000251038.5	+	9	1499	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	425						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTAGAAAAAAATCAAGGTAAT	0.343																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1273-1275)aAt>aGt		zinc finger CCCH-type containing 14							47.0	51.0	49.0					14																	89044479		2201	4299	6500	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89044479A>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1274A>G	14.37:g.89044479A>G	ENSP00000251038:p.Asn425Ser					ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S	p.N425S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			9	1499	+			425					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1274A>G	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.653|0.653	-0.808587|-0.808587	0.02819|0.02819	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.29|5.29	-4.51|-4.51	0.03483|0.03483	.|.	.|1.111380	.|0.06441	.|N	.|0.725924	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.08118|0.08118	0|0	0.24646|0.24646	N|N	0.993545|0.993545	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001;0.0;0.001	T|T	0.30880|0.30880	-0.9963|-0.9963	5|9	.|0.09590	.|T	.|0.72	0.7538|0.7538	6.1357|6.1357	0.20230|0.20230	0.1368:0.0:0.4318:0.4314|0.1368:0.0:0.4318:0.4314	.|.	.|425;406;425;425;425;425	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	V|S	341|425;425;425;391;425;406;425;270;425;425;391	.|.	.|ENSP00000251038:N425S	I|N	+|+	1|2	0|0	ZC3H14|ZC3H14	88114232|88114232	0.994000|0.994000	0.37717|0.37717	0.570000|0.570000	0.28473|0.28473	0.343000|0.343000	0.28985|0.28985	0.149000|0.149000	0.16243|0.16243	-0.454000|-0.454000	0.07066|0.07066	-0.297000|-0.297000	0.09499|0.09499	ATC|AAT		0.343	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		55	257	0	0	0	1	0	55	257				
ACOT8	10005	broad.mit.edu	37	20	44472353	44472353	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472353G>A	ENST00000217455.4	-	5	744	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	218					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				TCTTCATGTCGCCCTCGCCTG	0.617																																						ENST00000217455.4																			0				kidney(2)|large_intestine(3)|lung(4)|skin(1)	10						c.(652-654)ggC>ggT		acyl-CoA thioesterase 8							49.0	43.0	45.0					20																	44472353		2203	4300	6503	SO:0001819	synonymous_variant	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44472353G>A	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.654C>T	20.37:g.44472353G>A							p.G218G	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN			5	744	-		Myeloproliferative disorder(115;0.0122)	218					O15261|Q17RX4	Silent	SNP	ENST00000217455.4	37	c.654C>T	CCDS13378.1																																																																																				0.617	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		50	222	0	0	0	1	0	50	222				
GSPT1	2935	broad.mit.edu	37	16	11990584	11990584	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11990584T>G	ENST00000563468.1	-	2	107	c.81A>C	c.(79-81)atA>atC	p.I27I	GSPT1_ENST00000420576.2_Silent_p.I27I|GSPT1_ENST00000434724.2_Silent_p.I165I|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Silent_p.I164I			P15170	ERF3A_HUMAN	G1 to S phase transition 1	27					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCTTCACTTATTTCTTCTT	0.433																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(493-495)atA>atC		G1 to S phase transition 1							64.0	58.0	60.0					16																	11990584		1894	4128	6022	SO:0001819	synonymous_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11990584T>G	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.81A>C	16.37:g.11990584T>G						GSPT1_ENST00000420576.2_Silent_p.I27I|GSPT1_ENST00000439887.2_Silent_p.I164I|GSPT1_ENST00000563468.1_Silent_p.I27I	p.I165I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			4	694	-			27					J3KQG6|Q96GF2	Silent	SNP	ENST00000563468.1	37	c.495A>C	CCDS45414.1																																																																																				0.433	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		15	42	0	0	0	1	0	15	42				
MUC16	94025	broad.mit.edu	37	19	9089904	9089904	+	Silent	SNP	G	G	A	rs374207045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	637	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S637S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAATCTGCGGATGTCTCAG	0.582																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.S637S(2)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1909-1911)tcC>tcT		mucin 16, cell surface associated		G		1,4373		0,1,2186	113.0	117.0	115.0		1911	-3.1	0.0	19		115	0,8566		0,0,4283	no	coding-synonymous	MUC16	NM_024690.2		0,1,6469	AA,AG,GG		0.0,0.0229,0.0077		637/14508	9089904	1,12939	2187	4283	6470	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089904G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1911C>T	19.37:g.9089904G>A							p.S637S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2114	-			637			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1911C>T	CCDS54212.1																																																																																				0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	519	0	0	0	1	0	18	519				
PCDHGA6	56109	broad.mit.edu	37	5	140754948	140754948	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754948C>T	ENST00000517434.1	+	1	1298	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	433	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTCTGTCTACAGAAACA	0.463																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1297-1299)tCt>tTt									115.0	124.0	121.0					5																	140754948		2115	4254	6369	SO:0001583	missense	0							g.chr5:140754948C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1298C>T	5.37:g.140754948C>T	ENSP00000429601:p.Ser433Phe					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S433F	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1298	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1298C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.110886	0.37242	.	.	ENSG00000253731	ENST00000517434	T	0.55052	0.54	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.31145	U	0.008180	T	0.79293	0.4421	M	0.92738	3.34	0.32337	N	0.56034	P;D	0.56746	0.906;0.977	P;D	0.67231	0.66;0.95	D	0.84431	0.0577	10	0.59425	D	0.04	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	433;433	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	F	433	ENSP00000429601:S433F	ENSP00000429601:S433F	S	+	2	0	PCDHGA6	140735132	0.719000	0.27986	0.909000	0.35828	0.004000	0.04260	1.771000	0.38542	2.885000	0.99019	0.655000	0.94253	TCT		0.463	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		122	484	0	0	0	1	0	122	484				
ZDHHC2	51201	broad.mit.edu	37	8	17055914	17055914	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055914T>C	ENST00000262096.8	+	6	1163	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	156					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TGGATCATCATTGTCCATGGT	0.259																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(466-468)caT>caC		zinc finger, DHHC-type containing 2							159.0	144.0	148.0					8																	17055914		1824	4085	5909	SO:0001819	synonymous_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17055914T>C	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.468T>C	8.37:g.17055914T>C							p.H156H	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	6	1163	+			156					D3DSP5	Silent	SNP	ENST00000262096.8	37	c.468T>C	CCDS47810.1																																																																																				0.259	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		22	122	0	0	0	1	0	22	122				
MORC1	27136	broad.mit.edu	37	3	108818260	108818260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108818260G>A	ENST00000483760.1	-	6	411	c.368C>T	c.(367-369)aCg>aTg	p.T123M	MORC1_ENST00000232603.5_Missense_Mutation_p.T123M|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGGTCATCGTTTCTTCCTT	0.343																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(367-369)aCg>aTg		MORC family CW-type zinc finger 1							124.0	124.0	124.0					3																	108818260		2201	4299	6500	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108818260G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.368C>T	3.37:g.108818260G>A	ENSP00000417282:p.Thr123Met					MORC1_ENST00000483760.1_Missense_Mutation_p.T123M	p.T123M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			6	450	-			123						Missense_Mutation	SNP	ENST00000483760.1	37	c.368C>T		.	.	.	.	.	.	.	.	.	.	G	16.58	3.161618	0.57368	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95001	-3.58;-3.58	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (3);	0.000000	0.50627	D	0.000108	D	0.96917	0.8993	M	0.78916	2.43	0.29482	N	0.856305	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.93587	0.6918	10	0.66056	D	0.02	-13.7836	15.6854	0.77405	0.0:0.0:1.0:0.0	.	123;123	E7ERX1;Q86VD1	.;MORC1_HUMAN	M	123	ENSP00000232603:T123M;ENSP00000417282:T123M	ENSP00000232603:T123M	T	-	2	0	MORC1	110300950	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	4.018000	0.57174	2.643000	0.89663	0.555000	0.69702	ACG		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			41	190	0	0	0	1	0	41	190				
DNAH8	1769	broad.mit.edu	37	6	38890961	38890961	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38890961G>T	ENST00000359357.3	+	70	10393	c.10139G>T	c.(10138-10140)aGa>aTa	p.R3380I	DNAH8_ENST00000441566.1_Splice_Site_p.R3344I|DNAH8_ENST00000449981.2_Splice_Site_p.R3597I|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3380					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGATTAATAGGTGGGAATCT	0.428																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.e70+1		dynein, axonemal, heavy chain 8							47.0	49.0	48.0					6																	38890961		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38890961G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10139+1G>T	6.37:g.38890961G>T						DNAH8_ENST00000449981.2_Splice_Site_p.R3597_splice|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Splice_Site_p.R3344_splice|RP1-207H1.3_ENST00000418399.1_RNA	p.R3380_splice							70	10393	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37	c.10139_splice		.	.	.	.	.	.	.	.	.	.	G	20.4	3.991528	0.74703	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.204756	0.45361	D	0.000374	D	0.87346	0.6154	H	0.94886	3.595	0.58432	D	0.999999	D	0.55172	0.97	P	0.59825	0.864	D	0.89862	0.4017	10	0.59425	D	0.04	.	17.56	0.87903	0.0:0.0:1.0:0.0	.	3380	Q96JB1	DYH8_HUMAN	I	3585;3585;3380;3344	ENSP00000333363:R3585I;ENSP00000352312:R3380I;ENSP00000402294:R3344I	ENSP00000333363:R3585I	R	+	2	0	DNAH8	38998939	1.000000	0.71417	0.996000	0.52242	0.622000	0.37654	6.015000	0.70791	2.644000	0.89710	0.655000	0.94253	AGA		0.428	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Missense_Mutation	42	209	1	0	2.6416e-12	1	2.83477e-12	42	209				
RUNX2	860	broad.mit.edu	37	6	45459688	45459688	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45459688G>A	ENST00000371438.1	+	5	1054	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUNX2_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000465038.2_Silent_p.Q232Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	232					BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCACAGACAGAAGCTTGATG	0.418																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(694-696)caG>caA		runt-related transcription factor 2							436.0	351.0	380.0					6																	45459688		2203	4300	6503	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45459688G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.696G>A	6.37:g.45459688G>A						RUNX2_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000465038.2_Silent_p.Q232Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q	p.Q232Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			5	1054	+			232					O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.696G>A	CCDS43467.2																																																																																				0.418	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		79	958	0	0	0	1	0	79	958				
HIPK4	147746	broad.mit.edu	37	19	40889978	40889978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889978C>T	ENST00000291823.2	-	2	818	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGTAGAAGCGCGACTGGATGT	0.637																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(532-534)tcG>tcA		homeodomain interacting protein kinase 4							62.0	59.0	60.0					19																	40889978		2203	4300	6503	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40889978C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.534G>A	19.37:g.40889978C>T							p.S178S	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	818	-			178			Protein kinase.		A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.534G>A	CCDS12555.1																																																																																				0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		85	369	0	0	0	1	0	85	369				
MFN1	55669	broad.mit.edu	37	3	179076766	179076766	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076766A>G	ENST00000471841.1	+	4	513	c.387A>G	c.(385-387)ggA>ggG	p.G129G	MFN1_ENST00000263969.5_Silent_p.G129G|MFN1_ENST00000280653.7_Silent_p.G129G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	129	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGACAGAAGGATCAGATGAAA	0.343																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(385-387)ggA>ggG		mitofusin 1							130.0	121.0	124.0					3																	179076766		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076766A>G	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.387A>G	3.37:g.179076766A>G						MFN1_ENST00000263969.5_Silent_p.G129G|MFN1_ENST00000280653.7_Silent_p.G129G	p.G129G	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	513	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		129					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.387A>G	CCDS3228.1																																																																																				0.343	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		64	269	0	0	0	1	0	64	269				
GSTA2	2939	broad.mit.edu	37	6	52622689	52622689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622689G>A	ENST00000493422.1	-	2	212	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	19	GST N-terminal.			I -> T (in Ref. 6; AA sequence). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GGAGCCACCGGATGGACTCCA	0.488																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(55-57)atC>atT		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						115.0	110.0	112.0					6																	52622689		2203	4300	6503	SO:0001819	synonymous_variant	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52622689G>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.57C>T	6.37:g.52622689G>A							p.I19I	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			2	212	-	Lung NSC(77;0.118)		19	I -> T (in Ref. 6; AA sequence).		GST N-terminal.		Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	c.57C>T	CCDS4944.1																																																																																				0.488	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		76	364	0	0	0	1	0	76	364				
HOXC11	3227	broad.mit.edu	37	12	54367428	54367428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54367428G>A	ENST00000546378.1	+	1	519	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T|HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	135					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CGCAACCCCCGCCGGCTTCTA	0.657			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(403-405)Gcc>Acc		homeobox C11							72.0	93.0	86.0					12																	54367428		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367428G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.403G>A	12.37:g.54367428G>A	ENSP00000446680:p.Ala135Thr					HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA	p.A135T			O43248	HXC11_HUMAN			1	519	+			135					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.403G>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093691	0.20471	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.42900	0.96;0.96	3.78	3.78	0.43462	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.166295	0.56097	D	0.000031	T	0.14527	0.0351	N	0.01464	-0.85	0.34893	D	0.745777	B	0.14012	0.009	B	0.12156	0.007	T	0.11792	-1.0573	10	0.30078	T	0.28	.	5.8294	0.18572	0.2113:0.0:0.7887:0.0	.	135	O43248	HXC11_HUMAN	T	135	ENSP00000446680:A135T;ENSP00000243082:A135T	ENSP00000243082:A135T	A	+	1	0	HOXC11	52653695	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.622000	0.46427	2.386000	0.81285	0.555000	0.69702	GCC		0.657	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			51	1389	0	0	0	1	0	51	1389				
CARHSP1	23589	broad.mit.edu	37	16	8953039	8953039	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8953039C>T	ENST00000396593.2	-	2	506	c.147G>A	c.(145-147)agG>agA	p.R49R	CARHSP1_ENST00000567554.1_Silent_p.R49R|CARHSP1_ENST00000561530.1_Silent_p.R49R|CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000567626.1_5'Flank|RP11-77H9.2_ENST00000565934.1_RNA	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	49					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						CCGAGAAGGTCCTCGTCCGGC	0.642																																						ENST00000396593.2																			0				endometrium(2)|lung(1)	3						c.(145-147)agG>agA		calcium regulated heat stable protein 1, 24kDa							27.0	23.0	24.0					16																	8953039		2196	4300	6496	SO:0001819	synonymous_variant	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8953039C>T	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"""calcium regulated heat stable protein 1 (24kD)"""			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.147G>A	16.37:g.8953039C>T						CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000567554.1_Silent_p.R49R|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000561530.1_Silent_p.R49R	p.R49R	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN			2	506	-			49					B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Silent	SNP	ENST00000396593.2	37	c.147G>A	CCDS10537.1																																																																																				0.642	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		19	99	0	0	0	1	0	19	99				
CORIN	10699	broad.mit.edu	37	4	47645169	47645169	+	Missense_Mutation	SNP	C	C	A	rs143147998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47645169C>A	ENST00000273857.4	-	15	2061	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y	CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	688	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACCACAGTCCCATTCATCT	0.478																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2062-2064)Gac>Tac		corin, serine peptidase		C	TYR/ASP	3,4403	6.2+/-15.9	0,3,2200	200.0	143.0	163.0		2062	3.5	1.0	4	dbSNP_134	163	0,8600		0,0,4300	no	missense	CORIN	NM_006587.2	160	0,3,6500	AA,AC,CC		0.0,0.0681,0.0231	probably-damaging	688/1043	47645169	3,13003	2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47645169C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2062G>T	4.37:g.47645169C>A	ENSP00000273857:p.Asp688Tyr					CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y	p.D688Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			15	2061	-			688			LDL-receptor class A 7.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2062G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268349	0.59540	6.81E-4	0.0	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88	6.17	3.55	0.40652	Speract/scavenger receptor-related (1);Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.433392	0.26601	N	0.023478	D	0.96463	0.8846	M	0.67953	2.075	0.43808	D	0.996366	D;D;D	0.76494	0.989;0.992;0.999	P;P;D	0.71870	0.905;0.879;0.975	D	0.94733	0.7911	10	0.46703	T	0.11	.	9.3009	0.37845	0.0:0.7321:0.0:0.2679	.	651;621;688	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	Y	688;549;621;651;651	ENSP00000273857:D688Y;ENSP00000425597:D549Y;ENSP00000424212:D621Y;ENSP00000425401:D651Y;ENSP00000423216:D651Y	ENSP00000273857:D688Y	D	-	1	0	CORIN	47339926	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.339000	0.33885	0.492000	0.27815	0.655000	0.94253	GAC		0.478	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			47	257	1	0	2.64894e-19	1	2.95328e-19	47	257				
PDE7B	27115	broad.mit.edu	37	6	136512832	136512832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136512832C>A	ENST00000308191.6	+	13	1510	c.1207C>A	c.(1207-1209)Ctg>Atg	p.L403M	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	403	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GGAGAACATGCTGGGCCACCT	0.612																																						ENST00000308191.6																			0				breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1207-1209)Ctg>Atg		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						55.0	46.0	49.0					6																	136512832		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136512832C>A	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1207C>A	6.37:g.136512832C>A	ENSP00000310661:p.Leu403Met					RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	p.L403M	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	13	1510	+	Colorectal(23;0.24)		403			Catalytic (By similarity).		Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.1207C>A	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951377	0.18431	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.79247	-1.25	5.17	4.28	0.50868	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.136413	0.50627	D	0.000107	T	0.64713	0.2623	N	0.25094	0.71	0.50467	D	0.999878	P;P	0.50617	0.937;0.669	B;P	0.54238	0.335;0.746	T	0.64198	-0.6464	10	0.31617	T	0.26	.	10.5121	0.44868	0.0:0.8508:0.0:0.1492	.	455;403	A1E5M1;Q9NP56	.;PDE7B_HUMAN	M	403;539	ENSP00000310661:L403M	ENSP00000310661:L403M	L	+	1	2	PDE7B	136554525	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	0.687000	0.25407	2.569000	0.86673	0.655000	0.94253	CTG		0.612	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			12	122	1	0	2.27111e-07	1	2.35674e-07	12	122				
PDLIM3	27295	broad.mit.edu	37	4	186425686	186425686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425686C>T	ENST00000284770.5	-	7	921	c.848G>A	c.(847-849)gGc>gAc	p.G283D	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	283					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCCTGAACCGCCATGGACTTT	0.532																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(847-849)gGc>gAc		PDZ and LIM domain 3							66.0	58.0	61.0					4																	186425686		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186425686C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.848G>A	4.37:g.186425686C>T	ENSP00000284770:p.Gly283Asp					PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D|PDLIM3_ENST00000284767.5_3'UTR	p.G283D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	7	921	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	283					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.848G>A	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712702	0.48517	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.36340	1.26;2.13	5.53	4.64	0.57946	.	0.243150	0.49305	D	0.000153	T	0.31670	0.0804	L	0.34521	1.04	0.80722	D	1	B;B	0.25486	0.127;0.078	B;B	0.31751	0.135;0.082	T	0.16958	-1.0385	10	0.72032	D	0.01	-12.4155	13.0657	0.59032	0.0:0.6237:0.3763:0.0	.	235;283	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	D	283;235	ENSP00000284770:G283D;ENSP00000284771:G235D	ENSP00000284770:G283D	G	-	2	0	PDLIM3	186662680	0.799000	0.28903	0.028000	0.17463	0.008000	0.06430	4.880000	0.63107	2.770000	0.95276	0.655000	0.94253	GGC		0.532	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		30	157	0	0	0	1	0	30	157				
RANBP3	8498	broad.mit.edu	37	19	5928016	5928016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5928016G>A	ENST00000340578.6	-	9	833	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V|RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	259					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AAATACAAAGGCTTGCTGTGT	0.468																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(775-777)gCc>gTc		RAN binding protein 3							127.0	132.0	130.0					19																	5928016		1917	4132	6049	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5928016G>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.776C>T	19.37:g.5928016G>A	ENSP00000341483:p.Ala259Val					RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V|RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V	p.A259V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			9	833	-			259					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.776C>T	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995853	0.54147	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.32988	1.43;1.43;2.19;1.44	5.4	4.36	0.52297	.	0.243763	0.42294	D	0.000729	T	0.36991	0.0987	L	0.57536	1.79	0.40303	D	0.978638	P;P;P;P;P;P;P	0.51653	0.897;0.911;0.835;0.835;0.897;0.947;0.911	P;B;B;B;P;P;B	0.49853	0.624;0.363;0.363;0.363;0.566;0.566;0.44	T	0.10941	-1.0608	10	0.39692	T	0.17	-13.6051	11.1458	0.48430	0.089:0.0:0.911:0.0	.	131;254;131;186;191;254;259	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	V	259;254;191;190;131	ENSP00000341483:A259V;ENSP00000404837:A254V;ENSP00000034275:A191V;ENSP00000445071:A131V	ENSP00000034275:A191V	A	-	2	0	RANBP3	5879016	0.890000	0.30428	0.138000	0.22173	0.044000	0.14063	3.779000	0.55379	2.536000	0.85505	0.655000	0.94253	GCC		0.468	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		122	466	0	0	0	1	0	122	466				
BTNL9	153579	broad.mit.edu	37	5	180480219	180480219	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180480219C>A	ENST00000327705.9	+	5	987	c.756C>A	c.(754-756)gcC>gcA	p.A252A	BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000515271.1_Silent_p.A183A|BTNL9_ENST00000511589.1_3'UTR	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	252						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCCGGAGCCTCTGCGTGGA	0.721																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(754-756)gcC>gcA		butyrophilin-like 9							18.0	22.0	21.0					5																	180480219		2174	4247	6421	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180480219C>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.756C>A	5.37:g.180480219C>A						BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000515271.1_Silent_p.A183A|BTNL9_ENST00000511589.1_3'UTR	p.A252A	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	987	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	252					A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.756C>A	CCDS4460.2																																																																																				0.721	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		20	76	1	0	1.10923e-09	1	1.16946e-09	20	76				
USP9X	8239	broad.mit.edu	37	X	41000309	41000309	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41000309A>G	ENST00000324545.8	+	8	1494	c.861A>G	c.(859-861)gaA>gaG	p.E287E	USP9X_ENST00000378308.2_Silent_p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	287					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGTTTTTAGAAAACTTAACTG	0.318																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(859-861)gaA>gaG		ubiquitin specific peptidase 9, X-linked							22.0	22.0	22.0					X																	41000309		2116	4228	6344	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000309A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.861A>G	X.37:g.41000309A>G						USP9X_ENST00000378308.2_Silent_p.E287E	p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			8	1494	+			287					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.861A>G	CCDS43930.1																																																																																				0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		22	84	0	0	0	1	0	22	84				
TAF1	6872	broad.mit.edu	37	X	70595105	70595105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70595105G>T	ENST00000373790.4	+	4	552	c.501G>T	c.(499-501)aaG>aaT	p.K167N	TAF1_ENST00000449580.1_Missense_Mutation_p.K167N|TAF1_ENST00000423759.1_Missense_Mutation_p.K167N|TAF1_ENST00000276072.3_Missense_Mutation_p.K167N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	167	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GACCAATGAAGAAGGATAAGG	0.433																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(499-501)aaG>aaT		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							117.0	99.0	105.0					X																	70595105		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70595105G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.501G>T	X.37:g.70595105G>T	ENSP00000362895:p.Lys167Asn					TAF1_ENST00000276072.3_Missense_Mutation_p.K167N|TAF1_ENST00000373790.4_Missense_Mutation_p.K167N|TAF1_ENST00000423759.1_Missense_Mutation_p.K167N	p.K167N			P21675	TAF1_HUMAN			4	552	+	Renal(35;0.156)	all_lung(315;0.000321)	167			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.501G>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307933	0.40895	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09911	2.95;3.01;2.98;2.93	4.83	3.05	0.35203	.	0.052619	0.85682	D	0.000000	T	0.08537	0.0212	L	0.39633	1.23	0.40498	D	0.980611	B;B	0.26258	0.039;0.145	B;B	0.21708	0.016;0.036	T	0.26710	-1.0095	10	0.27785	T	0.31	.	8.1709	0.31254	0.4141:0.0:0.5859:0.0	.	167;167	P21675;P21675-2	TAF1_HUMAN;.	N	167	ENSP00000362895:K167N;ENSP00000389000:K167N;ENSP00000406549:K167N;ENSP00000276072:K167N	ENSP00000276072:K167N	K	+	3	2	TAF1	70511830	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	2.794000	0.47853	0.406000	0.25560	0.429000	0.28392	AAG		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		61	258	1	0	1.22119e-34	1	1.45331e-34	61	258				
MCM3AP	8888	broad.mit.edu	37	21	47671525	47671525	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47671525G>T	ENST00000397708.1	-	21	4462	c.4208C>A	c.(4207-4209)gCt>gAt	p.A1403D	AP001469.9_ENST00000430259.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1403					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATCCCACCAGCATCGCTGGA	0.373																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4207-4209)gCt>gAt		minichromosome maintenance complex component 3 associated protein							91.0	81.0	85.0					21																	47671525		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47671525G>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4208C>A	21.37:g.47671525G>T	ENSP00000380820:p.Ala1403Asp					MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D|MCM3AP_ENST00000467026.1_5'UTR	p.A1403D			O60318	MCM3A_HUMAN			21	4462	-	Breast(49;0.112)		1403					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4208C>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863979	0.32884	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.46819	0.86;0.86	5.44	1.23	0.21249	.	0.684405	0.15053	N	0.283175	T	0.29458	0.0734	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.12766	T	0.61	-2.1432	4.6531	0.12605	0.18:0.0:0.3759:0.444	.	1403	O60318	MCM3A_HUMAN	D	1403	ENSP00000380820:A1403D;ENSP00000291688:A1403D	ENSP00000291688:A1403D	A	-	2	0	MCM3AP	46495953	0.000000	0.05858	0.696000	0.30242	0.841000	0.47740	0.303000	0.19210	0.240000	0.21263	0.655000	0.94253	GCT		0.373	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		25	126	1	0	1.77063e-15	1	1.9355e-15	25	126				
CES5A	221223	broad.mit.edu	37	16	55903635	55903635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55903635C>A	ENST00000290567.9	-	4	560	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C	CES5A_ENST00000518005.1_Missense_Mutation_p.G41C|CES5A_ENST00000520435.1_Missense_Mutation_p.G117C|CES5A_ENST00000521992.1_Missense_Mutation_p.G176C|CES5A_ENST00000319165.9_Missense_Mutation_p.G147C|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	147						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTGAAGGCACCTCCTGGGAAC	0.587																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(526-528)Ggt>Tgt		carboxylesterase 5A							64.0	46.0	52.0					16																	55903635		2198	4300	6498	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55903635C>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.439G>T	16.37:g.55903635C>A	ENSP00000290567:p.Gly147Cys					CES5A_ENST00000518005.1_Missense_Mutation_p.G41C|CES5A_ENST00000319165.9_Missense_Mutation_p.G147C|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.G117C|CES5A_ENST00000290567.9_Missense_Mutation_p.G147C	p.G176C	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			5	671	-			147					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.526G>T	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993079	0.54041	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;D	0.84516	-0.34;-0.34;-0.34;-0.34;-0.34;-1.86	4.94	4.94	0.65067	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000012	D	0.95856	0.8651	H	0.99273	4.495	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	D	0.97730	1.0202	10	0.87932	D	0	.	16.0398	0.80654	0.0:1.0:0.0:0.0	.	147;147	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	C	176;147;41;147;117;41	ENSP00000428864:G176C;ENSP00000324271:G147C;ENSP00000428571:G41C;ENSP00000290567:G147C;ENSP00000428887:G117C;ENSP00000439810:G41C	ENSP00000290567:G147C	G	-	1	0	CES5A	54461136	0.999000	0.42202	0.630000	0.29268	0.049000	0.14656	5.220000	0.65267	2.440000	0.82611	0.557000	0.71058	GGT		0.587	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		18	56	1	0	1.33834e-09	1	1.40959e-09	18	56				
SPEN	23013	broad.mit.edu	37	1	16264404	16264404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16264404G>A	ENST00000375759.3	+	13	10811	c.10607G>A	c.(10606-10608)cGg>cAg	p.R3536Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3536	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGCCCATCGGTCCCTGCCC	0.622																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10606-10608)cGg>cAg		spen family transcriptional repressor							88.0	85.0	86.0					1																	16264404		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16264404G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10607G>A	1.37:g.16264404G>A	ENSP00000364912:p.Arg3536Gln						p.R3536Q	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	13	10811	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3536			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10607G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727230	0.89390	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.3	5.3	0.74995	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.10423	0.0255	L	0.38175	1.15	0.58432	D	0.999999	P	0.48294	0.908	B	0.39217	0.294	T	0.26538	-1.0100	9	0.18276	T	0.48	-15.3801	19.3263	0.94264	0.0:0.0:1.0:0.0	.	3536	Q96T58	MINT_HUMAN	Q	3536	ENSP00000364912:R3536Q	ENSP00000364912:R3536Q	R	+	2	0	SPEN	16136991	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.350000	0.97070	2.628000	0.89032	0.655000	0.94253	CGG		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		97	422	0	0	0	1	0	97	422				
AMER1	139285	broad.mit.edu	37	X	63411844	63411844	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63411844T>C	ENST00000330258.3	-	2	1595	c.1323A>G	c.(1321-1323)ccA>ccG	p.P441P	AMER1_ENST00000403336.1_Silent_p.P441P|AMER1_ENST00000374869.3_Silent_p.P441P	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	441					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									AAGACCTAACTGGGTCAAGGA	0.532																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1321-1323)ccA>ccG		APC membrane recruitment protein 1							162.0	124.0	137.0					X																	63411844		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63411844T>C	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1323A>G	X.37:g.63411844T>C						AMER1_ENST00000403336.1_Silent_p.P441P|AMER1_ENST00000374869.3_Silent_p.P441P	p.P441P	NM_152424.3	NP_689637.3					2	1595	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.1323A>G	CCDS14377.2																																																																																				0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		91	325	0	0	0	1	0	91	325				
NACA	4666	broad.mit.edu	37	12	57113606	57113606	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57113606A>G	ENST00000454682.1	-	3	1989	c.1708T>C	c.(1708-1710)Tcc>Ccc	p.S570P	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	570	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAAGAAGGGGAATTTTTAGGG	0.502			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1708-1710)Tcc>Ccc		nascent polypeptide-associated complex alpha subunit							66.0	66.0	66.0					12																	57113606		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113606A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1708T>C	12.37:g.57113606A>G	ENSP00000403817:p.Ser570Pro					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P	p.S570P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1989	-			41						Missense_Mutation	SNP	ENST00000454682.1	37	c.1708T>C		.	.	.	.	.	.	.	.	.	.	A	6.909	0.537275	0.13188	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.60920	0.15;0.76	3.55	-0.573	0.11742	.	.	.	.	.	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.08055	0.002;0.003	T	0.20538	-1.0272	9	0.87932	D	0	.	3.5169	0.07728	0.5152:0.2055:0.2793:0.0	.	570;570	E9PAV3;F8VU71	.;.	P	570	ENSP00000403817:S570P;ENSP00000448035:S570P	ENSP00000403817:S570P	S	-	1	0	NACA	55399873	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.020000	0.13466	-0.006000	0.14370	0.369000	0.22263	TCC		0.502	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		48	162	0	0	0	1	0	48	162				
DUOX1	53905	broad.mit.edu	37	15	45448079	45448079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45448079C>A	ENST00000321429.4	+	29	4061	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L	DUOX1_ENST00000389037.3_Missense_Mutation_p.F1218L|DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1218	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCGCAGTTTCCGGGGCTTCT	0.582																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3652-3654)ttC>ttA		dual oxidase 1							101.0	96.0	98.0					15																	45448079		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45448079C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3654C>A	15.37:g.45448079C>A	ENSP00000317997:p.Phe1218Leu					DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L|DUOX1_ENST00000389037.3_Missense_Mutation_p.F1218L|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.F1218L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	29	4061	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1218			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3654C>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.902934	0.72754	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.91011	-2.77;-2.77	4.11	3.18	0.36537	Flavoprotein transmembrane component (1);	0.047507	0.85682	D	0.000000	D	0.95686	0.8597	H	0.96889	3.9	0.80722	D	1	D	0.55385	0.971	P	0.62435	0.902	D	0.94539	0.7743	10	0.87932	D	0	-28.569	6.4686	0.21995	0.0:0.7793:0.0:0.2207	.	1218	Q9NRD9	DUOX1_HUMAN	L	1218	ENSP00000317997:F1218L;ENSP00000373689:F1218L	ENSP00000317997:F1218L	F	+	3	2	DUOX1	43235371	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.141000	0.31528	1.050000	0.40346	0.563000	0.77884	TTC		0.582	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		12	577	1	0	5.50884e-06	1	5.65664e-06	12	577				
KCNH1	3756	broad.mit.edu	37	1	211280608	211280608	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211280608C>A	ENST00000271751.4	-	2	218	c.191G>T	c.(190-192)aGc>aTc	p.S64I	KCNH1_ENST00000367007.4_Missense_Mutation_p.S64I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	64	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCAGGTGCTGCTTTTTTGCAT	0.423																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(190-192)aGc>aTc		potassium voltage-gated channel, subfamily H (eag-related), member 1							138.0	140.0	139.0					1																	211280608		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211280608C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.191G>T	1.37:g.211280608C>A	ENSP00000271751:p.Ser64Ile					KCNH1_ENST00000271751.4_Missense_Mutation_p.S64I	p.S64I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	2	360	-			64			PAS.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.191G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703773	0.88924	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99691	-6.42;-6.42	5.62	5.62	0.85841	PAS (3);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.97620	1.0135	10	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	64;64	Q14CL3;O95259	.;KCNH1_HUMAN	I	64	ENSP00000271751:S64I;ENSP00000355974:S64I	ENSP00000271751:S64I	S	-	2	0	KCNH1	209347231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.470000	0.80973	2.634000	0.89283	0.655000	0.94253	AGC		0.423	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		99	468	1	0	1.97301e-41	1	2.39674e-41	99	468				
PSMD1	5707	broad.mit.edu	37	2	232030716	232030716	+	Silent	SNP	C	C	T	rs149102064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232030716C>T	ENST00000308696.6	+	23	2862	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	PSMD1_ENST00000409643.1_Silent_p.Y869Y|PSMD1_ENST00000373635.4_Silent_p.Y869Y	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	900					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCTGTAGATACCAGCCTTTCA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17246	0.0		0.001	False		,,,				2504	0.0					ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(2698-2700)taC>taT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)	C	,	1,4405	2.1+/-5.4	0,1,2202	118.0	117.0	117.0		2607,2700	6.1	1.0	2	dbSNP_134	117	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	PSMD1	NM_001191037.1,NM_002807.3	,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,	869/923,900/954	232030716	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:232030716C>T	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2700C>T	2.37:g.232030716C>T						PSMD1_ENST00000409643.1_Silent_p.Y869Y|PSMD1_ENST00000373635.4_Silent_p.Y869Y	p.Y900Y	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	23	2862	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	900					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.2700C>T	CCDS2482.1																																																																																				0.418	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			37	445	0	0	0	1	0	37	445				
RAB3IP	117177	broad.mit.edu	37	12	70206614	70206614	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70206614A>G	ENST00000247833.7	+	9	1563	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G	RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000550536.1_Missense_Mutation_p.D412G|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAATTAGGGGACTCAAGCAAC	0.328																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1234-1236)gAc>gGc		RAB3A interacting protein							90.0	95.0	93.0					12																	70206614		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70206614A>G		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1187A>G	12.37:g.70206614A>G	ENSP00000247833:p.Asp396Gly					RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D396G	p.D412G	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		9	1692	+	Esophageal squamous(21;0.187)		412						Missense_Mutation	SNP	ENST00000247833.7	37	c.1235A>G	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.664593|4.664593	0.88251|0.88251	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847|ENST00000526994	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77545|0.77545	0.4146|0.4146	M|M	0.80508|0.80508	2.5|2.5	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.77004|.	0.989|.	T|T	0.78768|0.78768	-0.2075|-0.2075	10|5	0.51188|.	T|.	0.08|.	.|.	16.0977|16.0977	0.81139|0.81139	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	412|.	Q96QF0|.	RAB3I_HUMAN|.	G|A	396;190;412;190;190;103|128	ENSP00000247833:D396G;ENSP00000323349:D190G;ENSP00000447300:D412G;ENSP00000448773:D190G;ENSP00000448027:D190G;ENSP00000448102:D103G|.	ENSP00000447336:D37G|.	D|T	+|+	2|1	0|0	RAB3IP|RAB3IP	68492881|68492881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.962000|8.962000	0.93254|0.93254	2.216000|2.216000	0.71823|0.71823	0.528000|0.528000	0.53228|0.53228	GAC|ACT		0.328	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		74	318	0	0	0	1	0	74	318				
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																						ENST00000411500.1																			0																																																			0							g.chr6:32522722C>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A								NR_001298.1						0	484	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		6	149	1	0	1.76689e-08	1	1.84553e-08	6	149				
ARFGEF2	10564	broad.mit.edu	37	20	47601357	47601357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47601357C>T	ENST00000371917.4	+	15	2050	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	684	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATTCCTGCACCAGGAGGAGCG	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(2050-2052)Cag>Tag		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							125.0	107.0	113.0					20																	47601357		2203	4300	6503	SO:0001587	stop_gained	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47601357C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2050C>T	20.37:g.47601357C>T	ENSP00000360985:p.Gln684*						p.Q684*	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		15	2050	+			684			SEC7.		Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	c.2050C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	39	7.447046	0.98289	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	5.85	5.85	0.93711	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	684	.	ENSP00000360985:Q684X	Q	+	1	0	ARFGEF2	47034764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.920000	0.70017	2.770000	0.95276	0.563000	0.77884	CAG		0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		121	443	0	0	0	1	0	121	443				
TTN	7273	broad.mit.edu	37	2	179417271	179417271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179417271G>A	ENST00000591111.1	-	285	85657	c.85433C>T	c.(85432-85434)cCa>cTa	p.P28478L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30119L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28478	Fibronectin type-III 107. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CACTGTAATTGGCCCAATAGT	0.438																																						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.(90355-90357)cCa>cTa		titin							72.0	69.0	70.0					2																	179417271		1908	4124	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417271G>A	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.85433C>T	2.37:g.179417271G>A	ENSP00000465570:p.Pro28478Leu					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P28478L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.P30119L	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)		335	90580	-			28478			Fibronectin type-III 119.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.90356C>T		.	.	.	.	.	.	.	.	.	.	G	16.32	3.088870	0.55968	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.06;-0.11;-0.09	5.76	5.76	0.90799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85239	0.5651	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	P;P;P;D	0.69307	0.905;0.905;0.905;0.963	D	0.86867	0.2033	9	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	21054;21179;21246;28478	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27551;21054;21246;21179;21051	ENSP00000343764:P27551L;ENSP00000434586:P21054L;ENSP00000340554:P21246L;ENSP00000352154:P21179L	ENSP00000340554:P21246L	P	-	2	0	TTN	179125517	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.956000	0.87863	2.882000	0.98803	0.655000	0.94253	CCA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	169	0	0	0	1	0	32	169				
PHF3	23469	broad.mit.edu	37	6	64410340	64410340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64410340G>A	ENST00000262043.3	+	9	3423	c.3083G>A	c.(3082-3084)cGa>cAa	p.R1028Q	PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1028	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCTTGGAGACGAAGAGAAAAC	0.313																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3082-3084)cGa>cAa		PHD finger protein 3							61.0	63.0	62.0					6																	64410340		2203	4298	6501	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64410340G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3083G>A	6.37:g.64410340G>A	ENSP00000262043:p.Arg1028Gln					PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q	p.R1028Q			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		9	3423	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1028			TFIIS central.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3083G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554481	0.65425	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.40225	2.32;1.04;2.35;2.35	5.26	5.26	0.73747	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (2);	0.000000	0.30410	N	0.009690	T	0.05823	0.0152	N	0.01631	-0.79	0.35713	D	0.816557	B	0.21147	0.052	B	0.15870	0.014	T	0.27806	-1.0063	10	0.17832	T	0.49	-8.7725	6.8689	0.24108	0.2167:0.0:0.7833:0.0	.	1028	Q92576	PHF3_HUMAN	Q	842;297;1028;1028	ENSP00000424694:R842Q;ENSP00000425338:R297Q;ENSP00000262043:R1028Q;ENSP00000377048:R1028Q	ENSP00000262043:R1028Q	R	+	2	0	PHF3	64468299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.478000	0.60230	2.456000	0.83038	0.467000	0.42956	CGA		0.313	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			32	293	0	0	0	1	0	32	293				
FXR2	9513	broad.mit.edu	37	17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	500						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1498-1500)tCg>tTg		fragile X mental retardation, autosomal homolog 2							32.0	35.0	34.0					17																	7496331		1834	4076	5910	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496331G>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1499C>T	17.37:g.7496331G>A	ENSP00000250113:p.Ser500Leu						p.S500L	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	13	1833	-			500					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1499C>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742899	0.30865	.	.	ENSG00000129245	ENST00000250113	T	0.29655	1.56	5.63	3.53	0.40419	.	0.852251	0.10465	N	0.671508	T	0.19446	0.0467	N	0.14661	0.345	0.09310	N	1	B	0.22414	0.069	B	0.13407	0.009	T	0.13899	-1.0492	10	0.49607	T	0.09	5.7236	10.3258	0.43792	0.0786:0.136:0.7853:0.0	.	500	P51116	FXR2_HUMAN	L	500	ENSP00000250113:S500L	ENSP00000250113:S500L	S	-	2	0	FXR2	7437056	0.991000	0.36638	0.677000	0.29947	0.659000	0.38960	2.881000	0.48538	1.517000	0.48917	0.655000	0.94253	TCG		0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			51	295	0	0	0	1	0	51	295				
HOGA1	112817	broad.mit.edu	37	10	99358558	99358558	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99358558G>A	ENST00000370646.4	+	2	599	c.238G>A	c.(238-240)Gag>Aag	p.E80K	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	80					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CTCCAATGGCGAGTTTCCTTT	0.582																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(238-240)Gag>Aag		4-hydroxy-2-oxoglutarate aldolase 1							181.0	160.0	167.0					10																	99358558		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99358558G>A	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.238G>A	10.37:g.99358558G>A	ENSP00000359680:p.Glu80Lys					PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	p.E80K	NM_138413.3	NP_612422.2					2	599	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.238G>A	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552144	0.96501	.	.	ENSG00000241935	ENST00000370646	D	0.99089	-5.41	4.97	4.97	0.65823	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97905	1.0305	10	0.87932	D	0	-27.9215	18.2395	0.89961	0.0:0.0:1.0:0.0	.	80	Q86XE5	HOGA1_HUMAN	K	80	ENSP00000359680:E80K	ENSP00000359680:E80K	E	+	1	0	HOGA1	99348548	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.209000	0.95087	2.299000	0.77371	0.655000	0.94253	GAG		0.582	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		126	509	0	0	0	1	0	126	509				
OR5D18	219438	broad.mit.edu	37	11	55587930	55587930	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587930C>T	ENST00000333976.4	+	1	845	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAAGTGGCCTCTGTGTTTT	0.498																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(823-825)gcC>gcT		olfactory receptor, family 5, subfamily D, member 18							90.0	88.0	88.0					11																	55587930		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587930C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.825C>T	11.37:g.55587930C>T							p.A275A	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	845	+		all_epithelial(135;0.208)	275					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.825C>T	CCDS31510.1																																																																																				0.498	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		81	301	0	0	0	1	0	81	301				
SPTB	6710	broad.mit.edu	37	14	65253315	65253315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253315G>A	ENST00000389721.5	-	15	3400	c.3368C>T	c.(3367-3369)tCt>tTt	p.S1123F	SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000389722.3_Missense_Mutation_p.S1123F	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1123					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTCTCCCCAGACTCCTTAAC	0.597																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(3367-3369)tCt>tTt		spectrin, beta, erythrocytic							87.0	75.0	79.0					14																	65253315		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253315G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3368C>T	14.37:g.65253315G>A	ENSP00000374371:p.Ser1123Phe					SPTB_ENST00000389721.5_Missense_Mutation_p.S1123F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F	p.S1123F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3421	-		all_lung(585;4.15e-09)	1123					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.3368C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	5.196	0.221703	0.09863	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.89	4.89	0.63831	.	0.196582	0.44483	D	0.000454	T	0.30070	0.0753	N	0.16368	0.405	0.37834	D	0.928837	B;B	0.33171	0.4;0.081	B;B	0.38194	0.267;0.028	T	0.19192	-1.0313	10	0.13108	T	0.6	.	7.8989	0.29723	0.1794:0.0:0.8206:0.0	.	1123;1127	P11277;Q59FP5	SPTB1_HUMAN;.	F	1127;1123;1123;1123;1123;1123	ENSP00000374372:S1123F;ENSP00000451752:S1123F;ENSP00000374371:S1123F;ENSP00000443882:S1123F;ENSP00000374370:S1123F	ENSP00000374370:S1123F	S	-	2	0	SPTB	64323068	0.002000	0.14202	0.911000	0.35937	0.930000	0.56654	0.780000	0.26760	2.430000	0.82344	0.549000	0.68633	TCT		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			61	234	0	0	0	1	0	61	234				
VSNL1	7447	broad.mit.edu	37	2	17773500	17773500	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17773500G>A	ENST00000406397.1	+	2	684	c.159G>A	c.(157-159)gtG>gtA	p.V53V	VSNL1_ENST00000295156.4_Silent_p.V53V|VSNL1_ENST00000404666.2_Silent_p.V53V			P62760	VISL1_HUMAN	visinin-like 1	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCTCTATGTGAAGGTAAGTT	0.398																																						ENST00000406397.1																			0				NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(157-159)gtG>gtA		visinin-like 1							142.0	135.0	137.0					2																	17773500		2203	4300	6503	SO:0001819	synonymous_variant	7447						calcium ion binding	g.chr2:17773500G>A		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.159G>A	2.37:g.17773500G>A						VSNL1_ENST00000404666.2_Silent_p.V53V|VSNL1_ENST00000295156.4_Silent_p.V53V	p.V53V			P62760	VISL1_HUMAN			2	684	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		53			EF-hand 1.		D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	ENST00000406397.1	37	c.159G>A	CCDS1689.1																																																																																				0.398	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		57	673	0	0	0	1	0	57	673				
RNF6	6049	broad.mit.edu	37	13	26788516	26788516	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26788516A>C	ENST00000381588.4	-	5	2255	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000346166.3_Missense_Mutation_p.D501E	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	501					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTGACTCAGAATCGGCCTCCA	0.458																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1501-1503)gaT>gaG		ring finger protein (C3H2C3 type) 6							74.0	70.0	71.0					13																	26788516		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788516A>C	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1503T>G	13.37:g.26788516A>C	ENSP00000371000:p.Asp501Glu					RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000346166.3_Missense_Mutation_p.D501E|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|RNF6_ENST00000468480.1_Intron	p.D501E	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2255	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	501					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.1503T>G	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	A	1.620	-0.521653	0.04171	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.15487	3.05;3.05;3.05;2.42	4.64	0.627	0.17675	.	0.058299	0.64402	N	0.000002	T	0.03178	0.0093	N	0.01146	-0.985	0.19945	N	0.999943	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34551	-0.9824	10	0.05525	T	0.97	-10.5683	1.0214	0.01519	0.1494:0.1914:0.1526:0.5066	.	145;501	B4DDP0;Q9Y252	.;RNF6_HUMAN	E	501;501;501;145	ENSP00000342121:D501E;ENSP00000371000:D501E;ENSP00000370982:D501E;ENSP00000382665:D145E	ENSP00000342121:D501E	D	-	3	2	RNF6	25686516	0.997000	0.39634	0.853000	0.33588	0.872000	0.50106	0.373000	0.20484	0.031000	0.15407	-0.399000	0.06403	GAT		0.458	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		58	286	0	0	0	1	0	58	286				
CD97	976	broad.mit.edu	37	19	14517707	14517707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517707C>T	ENST00000242786.5	+	17	2222	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	CD97_ENST00000358600.3_Silent_p.T621T|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Silent_p.T665T|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	714					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCGTGACTACCGTCTGGAAGC	0.562											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2140-2142)acC>acT		CD97 molecule							201.0	217.0	212.0					19																	14517707		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517707C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2142C>T	19.37:g.14517707C>T			OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	CD97_ENST00000357355.3_Silent_p.T665T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.T621T	p.T714T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			17	2222	+			714					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.2142C>T	CCDS32929.1																																																																																				0.562	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		56	1735	0	0	0	1	0	56	1735				
UNC5D	137970	broad.mit.edu	37	8	35425705	35425705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35425705G>A	ENST00000404895.2	+	3	740	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000287272.2_Missense_Mutation_p.A138T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	138	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCAGTGTGTGGCGTGGAGCCA	0.542																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(412-414)Gcg>Acg		unc-5 homolog D (C. elegans)							144.0	140.0	141.0					8																	35425705		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425705G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.412G>A	8.37:g.35425705G>A	ENSP00000385143:p.Ala138Thr					UNC5D_ENST00000404895.2_Missense_Mutation_p.A138T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T	p.A138T			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	432	+			138			Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.412G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	35	5.432833	0.96150	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.22	5.22	0.72569	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84579	0.0660	10	0.87932	D	0	-14.5974	18.7938	0.91985	0.0:0.0:1.0:0.0	.	133;138	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	T	138;138;138;138;133	ENSP00000385143:A138T;ENSP00000392739:A138T;ENSP00000287272:A138T;ENSP00000412652:A138T;ENSP00000394303:A133T	ENSP00000287272:A138T	A	+	1	0	UNC5D	35545247	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.830000	0.99415	2.443000	0.82685	0.655000	0.94253	GCG		0.542	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			108	550	0	0	0	1	0	108	550				
TRPV1	7442	broad.mit.edu	37	17	3493618	3493618	+	Missense_Mutation	SNP	C	C	T	rs199693737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493618C>T	ENST00000571088.1	-	5	886	c.673G>A	c.(673-675)Gga>Aga	p.G225R	TRPV1_ENST00000576351.1_Missense_Mutation_p.G225R|TRPV1_ENST00000425167.2_Missense_Mutation_p.G225R|TRPV1_ENST00000174621.6_Missense_Mutation_p.G223R|SHPK_ENST00000572705.1_Missense_Mutation_p.G225R|TRPV1_ENST00000399756.4_Missense_Mutation_p.G225R|TRPV1_ENST00000399759.3_Missense_Mutation_p.G225R|TRPV1_ENST00000310522.5_Missense_Mutation_p.G225R	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	225					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACGTCTGCTCCGTTCTCCACC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19205	0.0		0.0	False		,,,				2504	0.0				Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(667-669)Gga>Aga		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	3,4269		0,3,2133	72.0	78.0	76.0		673,673,673,673	5.3	1.0	17		76	0,8488		0,0,4244	no	missense,missense,missense,missense	TRPV1	NM_018727.5,NM_080704.3,NM_080705.3,NM_080706.3	125,125,125,125	0,3,6377	TT,TC,CC		0.0,0.0702,0.0235	probably-damaging,probably-damaging,probably-damaging,probably-damaging	225/840,225/840,225/840,225/840	3493618	3,12757	2136	4244	6380	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493618C>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.673G>A	17.37:g.3493618C>T	ENSP00000461007:p.Gly225Arg					TRPV1_ENST00000399756.4_Missense_Mutation_p.G225R|TRPV1_ENST00000576351.1_Missense_Mutation_p.G225R|TRPV1_ENST00000310522.5_Missense_Mutation_p.G225R|TRPV1_ENST00000399759.3_Missense_Mutation_p.G225R|TRPV1_ENST00000425167.2_Missense_Mutation_p.G225R|TRPV1_ENST00000571088.1_Missense_Mutation_p.G225R|SHPK_ENST00000572705.1_Missense_Mutation_p.G225R	p.G223R			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	4	956	-			225					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.667G>A	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403160	0.83230	7.02E-4	0.0	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;D;D	0.81659	-1.21;-1.21;-1.21;-1.52;-1.52	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.153946	0.64402	D	0.000015	D	0.89691	0.6788	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90562	0.4516	10	0.87932	D	0	-8.0962	18.2953	0.90143	0.0:1.0:0.0:0.0	.	225;223;225;225	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	R	225;225;223;225;225	ENSP00000382661:G225R;ENSP00000382659:G225R;ENSP00000174621:G223R;ENSP00000409627:G225R;ENSP00000311692:G225R	ENSP00000174621:G223R	G	-	1	0	TRPV1	3440367	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.366000	0.79548	2.641000	0.89580	0.591000	0.81541	GGA		0.597	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		34	331	0	0	0	1	0	34	331				
EMR1	2015	broad.mit.edu	37	19	6924844	6924844	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6924844G>A	ENST00000312053.4	+	15	1984	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	EMR1_ENST00000381407.5_Silent_p.K508K|EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.K597K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	649					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTGGCGAAGACTCTCTTCC	0.582																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1945-1947)aaG>aaA		egf-like module containing, mucin-like, hormone receptor-like 1							219.0	138.0	165.0					19																	6924844		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6924844G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1947G>A	19.37:g.6924844G>A						EMR1_ENST00000381404.4_Silent_p.K597K|EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000381407.5_Silent_p.K508K|EMR1_ENST00000250572.8_Intron	p.K649K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			15	1984	+	all_hematologic(4;0.166)		649					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1947G>A	CCDS12175.1																																																																																				0.582	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			66	267	0	0	0	1	0	66	267				
SHCBP1L	81626	broad.mit.edu	37	1	182869360	182869360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182869360C>A	ENST00000367547.3	-	10	1956	c.1720G>T	c.(1720-1722)Gca>Tca	p.A574S	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.A455S	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	646										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATTTGGGTGCTGGAAGAACC	0.274																																						ENST00000367547.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(1720-1722)Gca>Tca		SHC SH2-domain binding protein 1-like							39.0	40.0	40.0					1																	182869360		2186	4291	6477	SO:0001583	missense	81626							g.chr1:182869360C>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.1720G>T	1.37:g.182869360C>A	ENSP00000356518:p.Ala574Ser					SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.A455S	p.A574S	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN			10	1956	-			646					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.1720G>T	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499865	0.64298	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.42131	0.98;0.98	5.24	3.37	0.38596	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.109437	0.40908	D	0.000997	T	0.42743	0.1216	N	0.22421	0.69	0.27230	N	0.959419	D;P;D	0.71674	0.998;0.746;0.998	D;P;D	0.79108	0.992;0.488;0.986	T	0.28618	-1.0038	10	0.12103	T	0.63	-7.8294	9.2861	0.37758	0.0:0.8282:0.0:0.1718	.	646;455;574	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	S	574;643;455	ENSP00000356518:A574S;ENSP00000397308:A455S	ENSP00000287709:A643S	A	-	1	0	SHCBP1L	181135983	0.976000	0.34144	0.997000	0.53966	0.997000	0.91878	1.494000	0.35616	0.605000	0.29947	0.585000	0.79938	GCA		0.274	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		18	104	1	0	3.32936e-07	1	3.45006e-07	18	104				
LRIG1	26018	broad.mit.edu	37	3	66467583	66467583	+	Missense_Mutation	SNP	C	C	T	rs533974488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66467583C>T	ENST00000273261.3	-	4	997	c.473G>A	c.(472-474)tGc>tAc	p.C158Y	LRIG1_ENST00000383703.3_Missense_Mutation_p.C158Y	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	158					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTGTGGAAAGCAGGTGTTCCG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19801	0.0		0.0	False		,,,				2504	0.001					ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(472-474)tGc>tAc		leucine-rich repeats and immunoglobulin-like domains 1							260.0	232.0	241.0					3																	66467583		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66467583C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.473G>A	3.37:g.66467583C>T	ENSP00000273261:p.Cys158Tyr					LRIG1_ENST00000273261.3_Missense_Mutation_p.C158Y	p.C158Y			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	4	1076	-		Lung NSC(201;0.0101)	158					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.473G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844997	0.51164	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58652	0.32;0.32	5.89	5.89	0.94794	.	0.104215	0.64402	D	0.000002	T	0.43277	0.1240	N	0.16130	0.375	0.50171	D	0.999854	B;B	0.29612	0.251;0.171	B;B	0.30179	0.112;0.105	T	0.37888	-0.9686	10	0.44086	T	0.13	.	15.6916	0.77457	0.0:0.8637:0.1363:0.0	.	158;158	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	Y	158;158;85	ENSP00000273261:C158Y;ENSP00000373208:C158Y	ENSP00000273261:C158Y	C	-	2	0	LRIG1	66550273	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.829000	0.48128	2.792000	0.96026	0.643000	0.83706	TGC		0.552	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		233	955	0	0	0	1	0	233	955				
GPR158	57512	broad.mit.edu	37	10	25887906	25887906	+	Silent	SNP	C	C	T	rs544868296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25887906C>T	ENST00000376351.3	+	11	3710	c.3351C>T	c.(3349-3351)agC>agT	p.S1117S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1117					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGGGCAGAGCGAAGAACTGC	0.473													c|||	1	0.000199681	0.0	0.0	5008	,	,		18800	0.0		0.0	False		,,,				2504	0.001					ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3349-3351)agC>agT		G protein-coupled receptor 158							86.0	90.0	89.0					10																	25887906		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887906C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3351C>T	10.37:g.25887906C>T						GPR158_ENST00000490549.1_3'UTR	p.S1117S	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3710	+			1117					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.3351C>T	CCDS31166.1																																																																																				0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		61	346	0	0	0	1	0	61	346				
PIK3CG	5294	broad.mit.edu	37	7	106508946	106508946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106508946G>A	ENST00000359195.3	+	2	1250	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	314					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCCAGACCCGGCCCTAGACGA	0.592																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(940-942)Gcc>Acc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							58.0	54.0	55.0					7																	106508946		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508946G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.940G>A	7.37:g.106508946G>A	ENSP00000352121:p.Ala314Thr					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T	p.A314T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1250	+			314					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.940G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	0.817	-0.749916	0.03041	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70164	-0.46;-0.46;-0.46	5.75	5.75	0.90469	.	0.461354	0.26328	N	0.025014	T	0.46249	0.1383	N	0.24115	0.695	0.09310	N	0.999997	B	0.12630	0.006	B	0.10450	0.005	T	0.23297	-1.0192	10	0.14656	T	0.56	-25.7248	6.0442	0.19750	0.1118:0.0:0.7036:0.1846	.	314	P48736	PK3CG_HUMAN	T	314	ENSP00000392258:A314T;ENSP00000419260:A314T;ENSP00000352121:A314T	ENSP00000352121:A314T	A	+	1	0	PIK3CG	106296182	0.972000	0.33761	0.932000	0.37286	0.058000	0.15608	5.320000	0.65841	2.714000	0.92807	0.561000	0.74099	GCC		0.592	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			18	328	0	0	0	1	0	18	328				
SYTL1	84958	broad.mit.edu	37	1	27677325	27677325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677325G>T	ENST00000543823.1	+	10	1508	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	SYTL1_ENST00000318074.5_Missense_Mutation_p.S337I|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	349	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGTGCTGAGCCTGTCTGTG	0.647																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1045-1047)aGc>aTc		synaptotagmin-like 1							63.0	57.0	59.0					1																	27677325		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27677325G>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1046G>T	1.37:g.27677325G>T	ENSP00000440704:p.Ser349Ile					SYTL1_ENST00000318074.5_Missense_Mutation_p.S337I|SYTL1_ENST00000490170.1_3'UTR	p.S349I			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	10	1508	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	349			C2 1.		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.1046G>T	CCDS53286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499008|3.499008	0.64298|0.64298	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000496001|ENST00000318074;ENST00000543823;ENST00000485269	.|T;T	.|0.68903	.|-0.36;-0.36	4.49|4.49	3.49|3.49	0.39957|0.39957	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.153666	.|0.64402	.|D	.|0.000020	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.10645|0.10645	0.015|0.015	0.39697|0.39697	D|D	0.971122|0.971122	.|B;B	.|0.26512	.|0.151;0.041	.|B;B	.|0.42087	.|0.375;0.036	T|T	0.55509|0.55509	-0.8130|-0.8130	5|10	.|0.87932	.|D	.|0	-11.2352|-11.2352	4.4517|4.4517	0.11624|0.11624	0.2925:0.0:0.7075:0.0|0.2925:0.0:0.7075:0.0	.|.	.|349;337	.|Q8IYJ3;Q8IYJ3-2	.|SYTL1_HUMAN;.	S|I	197|337;349;102	.|ENSP00000316464:S337I;ENSP00000440704:S349I	.|ENSP00000316464:S337I	A|S	+|+	1|2	0|0	SYTL1|SYTL1	27549912|27549912	0.232000|0.232000	0.23762|0.23762	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.848000|0.848000	0.27710|0.27710	2.337000|2.337000	0.79520|0.79520	0.456000|0.456000	0.33151|0.33151	GCC|AGC		0.647	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		32	274	1	0	5.90632e-09	1	6.19411e-09	32	274				
ITGB3BP	23421	broad.mit.edu	37	1	63955760	63955760	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63955760A>G	ENST00000271002.10	-	3	259	c.178T>C	c.(178-180)Tca>Cca	p.S60P	ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P|ITGB3BP_ENST00000371092.3_Missense_Mutation_p.S99P	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	60					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TAACCATTTGATAGTCCATTT	0.328																																						ENST00000371092.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(295-297)Tca>Cca		integrin beta 3 binding protein (beta3-endonexin)							115.0	109.0	111.0					1																	63955760		2203	4300	6503	SO:0001583	missense	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63955760A>G	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.178T>C	1.37:g.63955760A>G	ENSP00000271002:p.Ser60Pro					ITGB3BP_ENST00000271002.10_Missense_Mutation_p.S60P|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P	p.S99P	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN			4	355	-			60					B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Missense_Mutation	SNP	ENST00000271002.10	37	c.295T>C	CCDS30736.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874450	0.51695	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.57595	0.39;0.39;0.39	5.45	0.367	0.16140	.	0.312682	0.23014	N	0.052931	T	0.23210	0.0561	L	0.59436	1.845	0.32293	N	0.56607	P;P;P	0.44380	0.834;0.552;0.757	B;B;B	0.38562	0.276;0.255;0.261	T	0.05852	-1.0860	10	0.66056	D	0.02	-0.2302	2.7656	0.05319	0.5081:0.2769:0.0779:0.1371	.	60;99;60	Q13352-2;Q13352-5;Q13352	.;.;CENPR_HUMAN	P	60;99;60	ENSP00000271002:S60P;ENSP00000360133:S99P;ENSP00000283568:S60P	ENSP00000271002:S60P	S	-	1	0	ITGB3BP	63728348	0.993000	0.37304	0.923000	0.36655	0.696000	0.40369	1.494000	0.35616	0.145000	0.18977	0.533000	0.62120	TCA		0.328	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		44	148	0	0	0	1	0	44	148				
PDE6A	5145	broad.mit.edu	37	5	149310693	149310693	+	Silent	SNP	A	A	C	rs552900459		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149310693A>C	ENST00000255266.5	-	4	875	c.756T>G	c.(754-756)ctT>ctG	p.L252L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	252					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CGATGTCCGTAAGTTCTTCAA	0.443																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(754-756)ctT>ctG		phosphodiesterase 6A, cGMP-specific, rod, alpha							146.0	118.0	128.0					5																	149310693		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149310693A>C		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.756T>G	5.37:g.149310693A>C							p.L252L	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	875	-			252					Q0P638	Silent	SNP	ENST00000255266.5	37	c.756T>G	CCDS4299.1																																																																																				0.443	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			56	306	0	0	0	1	0	56	306				
TMEM214	54867	broad.mit.edu	37	2	27263359	27263359	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27263359A>G	ENST00000238788.9	+	16	2000	c.1938A>G	c.(1936-1938)gcA>gcG	p.A646A	TMEM214_ENST00000404032.3_Silent_p.A601A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	646					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCCATGAGGCATGCAGGTGAG	0.637																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1936-1938)gcA>gcG		transmembrane protein 214							53.0	52.0	52.0					2																	27263359		1985	4148	6133	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27263359A>G		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1938A>G	2.37:g.27263359A>G						TMEM214_ENST00000404032.3_Silent_p.A601A	p.A646A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			16	2000	+			646					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.1938A>G	CCDS42664.1																																																																																				0.637	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		98	269	0	0	0	1	0	98	269				
TRPC4	7223	broad.mit.edu	37	13	38266348	38266348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266348G>T	ENST00000379705.3	-	4	1879	c.1022C>A	c.(1021-1023)cCt>cAt	p.P341H	TRPC4_ENST00000355779.2_Missense_Mutation_p.P341H|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	341					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGAGAAGACAGGAAAAAGAAG	0.478																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1021-1023)cCt>cAt		transient receptor potential cation channel, subfamily C, member 4							112.0	102.0	105.0					13																	38266348		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266348G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1022C>A	13.37:g.38266348G>T	ENSP00000369027:p.Pro341His					TRPC4_ENST00000447043.1_Missense_Mutation_p.P341H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341H	p.P341H			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1879	-			341					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1022C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440831	0.83993	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	H	0.95187	3.635	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	0.91635	0.992;0.994;0.999;0.997;0.992;0.987	D	0.96799	0.9588	10	0.87932	D	0	-15.767	19.3656	0.94460	0.0:0.0:1.0:0.0	.	341;341;341;168;341;341	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	H	341;341;168;168;341;341;341;341;341	ENSP00000369027:P341H;ENSP00000369003:P341H;ENSP00000342580:P168H;ENSP00000369001:P168H;ENSP00000410133:P341H;ENSP00000348025:P341H;ENSP00000351264:P341H;ENSP00000368995:P341H;ENSP00000414316:P341H	ENSP00000342580:P168H	P	-	2	0	TRPC4	37164348	1.000000	0.71417	0.917000	0.36280	0.953000	0.61014	9.690000	0.98676	2.637000	0.89404	0.467000	0.42956	CCT		0.478	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		42	172	1	0	2.26627e-22	1	2.56399e-22	42	172				
FHL3	2275	broad.mit.edu	37	1	38463501	38463501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463501C>T	ENST00000373016.3	-	5	711	c.543G>A	c.(541-543)tgG>tgA	p.W181*	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	181	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTCGATGCCACGGCTGAT	0.587																																						ENST00000373016.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(541-543)tgG>tgA		four and a half LIM domains 3							77.0	75.0	76.0					1																	38463501		2203	4300	6503	SO:0001587	stop_gained	2275				muscle organ development		zinc ion binding	g.chr1:38463501C>T	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.543G>A	1.37:g.38463501C>T	ENSP00000362107:p.Trp181*					FHL3_ENST00000485803.1_5'UTR	p.W181*	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			5	711	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	181			LIM zinc-binding 3.		D3DPT6|Q6I9T0|Q9BVA2	Nonsense_Mutation	SNP	ENST00000373016.3	37	c.543G>A	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046342	0.93740	.	.	ENSG00000183386	ENST00000373016	.	.	.	5.01	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.132	0.65260	0.1508:0.8492:0.0:0.0	.	.	.	.	X	181	.	ENSP00000362107:W181X	W	-	3	0	FHL3	38236088	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.849000	0.62882	2.343000	0.79666	0.313000	0.20887	TGG		0.587	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		27	276	0	0	0	1	0	27	276				
CD320	51293	broad.mit.edu	37	19	8367489	8367489	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8367489G>A	ENST00000301458.5	-	5	771	c.707C>T	c.(706-708)gCg>gTg	p.A236V	CD320_ENST00000537716.2_Splice_Site_p.A194V	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	236	Poly-Ala.				cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACTGAGCACCGCTGTGGGGAA	0.622																																						ENST00000301458.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						c.e5-1		CD320 molecule							43.0	41.0	41.0					19																	8367489		2203	4300	6503	SO:0001630	splice_region_variant	51293				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity	g.chr19:8367489G>A	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.707-1C>T	19.37:g.8367489G>A						CD320_ENST00000537716.2_Splice_Site_p.A194_splice	p.A236_splice	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN			5	771	-			236			Poly-Ala.		B2RDS5|D6W668|F5H6D3|Q53HF7	Splice_Site	SNP	ENST00000301458.5	37	c.706_splice	CCDS12198.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362724	0.11296	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96856	-3.14;-4.15	4.04	-8.08	0.01094	.	1.298340	0.05497	N	0.557812	D	0.87581	0.6213	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.06405	0.002;0.001	T	0.80025	-0.1555	10	0.13853	T	0.58	.	10.0455	0.42184	0.2222:0.1237:0.6542:0.0	.	194;236	F5H6D3;Q9NPF0	.;CD320_HUMAN	V	236;194	ENSP00000301458:A236V;ENSP00000437697:A194V	ENSP00000301458:A236V	A	-	2	0	CD320	8273489	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.128000	0.03247	-1.940000	0.01043	-1.127000	0.01993	GCG		0.622	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579	Missense_Mutation	61	249	0	0	0	1	0	61	249				
SLC4A10	57282	broad.mit.edu	37	2	162834231	162834231	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162834231G>A	ENST00000446997.1	+	26	3437		c.e26-1		SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000375514.5_Splice_Site|SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000415876.2_Splice_Site	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TTTGTCATAAGCTCCCCTTCC	0.328																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.e26-1		solute carrier family 4, sodium bicarbonate transporter, member 10							74.0	69.0	70.0					2																	162834231		1803	4061	5864	SO:0001630	splice_region_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162834231G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3345-1G>A	2.37:g.162834231G>A						SLC4A10_ENST00000415876.2_Splice_Site|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Splice_Site|SLC4A10_ENST00000272716.5_Intron		NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			26	3574	+								B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Splice_Site	SNP	ENST00000446997.1	37		CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343284	0.82022	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000446997;ENST00000415711	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.415	0.94690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A10	162542477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.432000	0.66514	2.600000	0.87896	0.650000	0.86243	.		0.328	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	Intron	66	383	0	0	0	1	0	66	383				
TLN1	7094	broad.mit.edu	37	9	35705570	35705570	+	Missense_Mutation	SNP	G	G	A	rs373819052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35705570G>A	ENST00000314888.9	-	43	6064	c.5711C>T	c.(5710-5712)gCg>gTg	p.A1904V	TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1904	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCCACCGCTGCAGGCTT	0.602																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(5710-5712)gCg>gTg		talin 1		G	VAL/ALA	0,4406		0,0,2203	68.0	71.0	70.0		5711	5.7	1.0	9		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1904/2542	35705570	1,13005	2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35705570G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5711C>T	9.37:g.35705570G>A	ENSP00000316029:p.Ala1904Val					TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	p.A1904V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		43	6064	-	all_epithelial(49;0.167)		1904			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.5711C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058624	0.55325	0.0	1.16E-4	ENSG00000137076	ENST00000314888	T	0.25749	1.78	5.66	5.66	0.87406	Vinculin-binding site-containing domain (1);	0.102540	0.64402	D	0.000003	T	0.26085	0.0636	L	0.49350	1.555	0.80722	D	1	B	0.28324	0.207	B	0.21917	0.037	T	0.05338	-1.0891	10	0.16420	T	0.52	-10.0954	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1904	Q9Y490	TLN1_HUMAN	V	1904	ENSP00000316029:A1904V	ENSP00000316029:A1904V	A	-	2	0	TLN1	35695570	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.598000	0.82745	2.662000	0.90505	0.555000	0.69702	GCG		0.602	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		120	522	0	0	0	1	0	120	522				
OR2B6	26212	broad.mit.edu	37	6	27925530	27925530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27925530C>T	ENST00000244623.1	+	1	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGACCCCTATGTGATA	0.488																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(511-513)cCc>cTc		olfactory receptor, family 2, subfamily B, member 6							139.0	142.0	141.0					6																	27925530		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925530C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.512C>T	6.37:g.27925530C>T	ENSP00000244623:p.Pro171Leu						p.P171L	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	512	+			171					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.512C>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	6.560	0.471641	0.12461	.	.	ENSG00000124657	ENST00000244623	T	0.38077	1.16	3.55	-0.147	0.13428	GPCR, rhodopsin-like superfamily (1);	1.407500	0.05586	U	0.573708	T	0.16599	0.0399	L	0.49256	1.55	0.09310	N	1	B	0.24317	0.101	B	0.32022	0.139	T	0.46652	-0.9176	10	0.56958	D	0.05	.	6.294	0.21075	0.4238:0.429:0.1471:0.0	.	171	P58173	OR2B6_HUMAN	L	171	ENSP00000244623:P171L	ENSP00000244623:P171L	P	+	2	0	OR2B6	28033509	0.000000	0.05858	0.105000	0.21289	0.254000	0.26022	-2.067000	0.01383	0.153000	0.19213	0.467000	0.42956	CCC		0.488	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			95	594	0	0	0	1	0	95	594				
EFEMP1	2202	broad.mit.edu	37	2	56144918	56144918	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144918G>A	ENST00000394555.2	-	4	834	c.399C>T	c.(397-399)ggC>ggT	p.G133G	EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000394554.1_Silent_p.G133G|EFEMP1_ENST00000424836.2_Silent_p.G75G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	133					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTATTTCGGCCAGTCTGCA	0.597																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(397-399)ggC>ggT		EGF containing fibulin-like extracellular matrix protein 1							60.0	58.0	59.0					2																	56144918		2203	4300	6503	SO:0001819	synonymous_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56144918G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.399C>T	2.37:g.56144918G>A						EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000424836.2_Silent_p.G75G|EFEMP1_ENST00000394554.1_Silent_p.G133G	p.G133G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	834	-			133					A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	c.399C>T	CCDS1857.1																																																																																				0.597	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			105	311	0	0	0	1	0	105	311				
PDCD5	9141	broad.mit.edu	37	19	33076792	33076792	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33076792A>T	ENST00000590247.2	+	4	431	c.237A>T	c.(235-237)agA>agT	p.R79S	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000419343.3_Missense_Mutation_p.R79S|PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	79					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGATGGCAAGATATGGACAAC	0.348																																						ENST00000590247.1																			0				breast(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(235-237)agA>agT		programmed cell death 5							106.0	112.0	110.0					19																	33076792		2203	4300	6503	SO:0001583	missense	9141				apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding	g.chr19:33076792A>T	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.237A>T	19.37:g.33076792A>T	ENSP00000466214:p.Arg79Ser					PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S	p.R79S	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN			4	431	+	Esophageal squamous(110;0.137)		79					B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	c.237A>T	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246699	0.59103	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.6	0.88	0.19161	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.46157	1.445	0.80722	D	1	P;B	0.37573	0.6;0.083	B;B	0.42625	0.393;0.137	T	0.22034	-1.0228	9	0.56958	D	0.05	-9.985	4.5168	0.11939	0.6197:0.0:0.2468:0.1334	.	79;79	O14737;B4DE64	PDCD5_HUMAN;.	S	79	.	ENSP00000221784:R79S	R	+	3	2	PDCD5	37768632	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	0.724000	0.25954	-0.187000	0.10516	0.460000	0.39030	AGA		0.348	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		72	303	0	0	0	1	0	72	303				
EPB41L4B	54566	broad.mit.edu	37	9	111936884	111936884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111936884C>A	ENST00000374566.3	-	26	3170	c.2653G>T	c.(2653-2655)Gaa>Taa	p.E885*		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	885					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCCAGTTCCTGCCGGAGT	0.448																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2653-2655)Gaa>Taa		erythrocyte membrane protein band 4.1 like 4B							115.0	118.0	117.0					9																	111936884		1958	4145	6103	SO:0001587	stop_gained	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111936884C>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2653G>T	9.37:g.111936884C>A	ENSP00000363694:p.Glu885*						p.E885*	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			26	3170	-			885					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Nonsense_Mutation	SNP	ENST00000374566.3	37	c.2653G>T	CCDS43859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.425980|10.425980	0.99403|0.99403	.|.	.|.	ENSG00000095203|ENSG00000095203	ENST00000374566|ENST00000262536	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.419856	.|0.17679	.|N	.|0.165710	.|T	.|0.76821	.|0.4041	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76462	.|-0.2950	.|6	0.87932|0.49607	D|T	0|0.09	.|.	19.215|19.215	0.93772|0.93772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	885|569	.|.	ENSP00000363694:E885X|ENSP00000262536:G569V	E|G	-|-	1|2	0|0	EPB41L4B|EPB41L4B	110976705|110976705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.677000|5.677000	0.68142|0.68142	2.539000|2.539000	0.85634|0.85634	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.448	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		13	205	1	0	5.50884e-06	1	5.65664e-06	13	205				
PEX11A	8800	broad.mit.edu	37	15	90229721	90229721	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90229721T>G	ENST00000300056.3	-	2	262	c.113A>C	c.(112-114)aAa>aCa	p.K38T	PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000561224.1_Missense_Mutation_p.K38T	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	38					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CACCTTCTCTTTGCCAGCTTT	0.408																																						ENST00000300056.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(112-114)aAa>aCa		peroxisomal biogenesis factor 11 alpha							174.0	161.0	166.0					15																	90229721		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90229721T>G	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.113A>C	15.37:g.90229721T>G	ENSP00000300056:p.Lys38Thr					PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T|PEX11A_ENST00000561224.1_Missense_Mutation_p.K38T	p.K38T	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		2	262	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		38					B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.113A>C	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121402	0.37436	.	.	ENSG00000166821	ENST00000300056	T	0.41065	1.01	5.84	4.52	0.55395	.	0.312733	0.43260	D	0.000592	T	0.28632	0.0709	L	0.35487	1.065	0.80722	D	1	B	0.16166	0.016	B	0.21917	0.037	T	0.09292	-1.0681	10	0.19590	T	0.45	-4.2629	7.6494	0.28340	0.0:0.0815:0.1433:0.7751	.	38	O75192	PX11A_HUMAN	T	38	ENSP00000300056:K38T	ENSP00000300056:K38T	K	-	2	0	PEX11A	88030725	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.014000	0.29950	2.229000	0.72834	0.528000	0.53228	AAA		0.408	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		8	442	0	0	0	1	0	8	442				
CCDC92	80212	broad.mit.edu	37	12	124428028	124428028	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124428028A>G	ENST00000238156.3	-	3	401	c.47T>C	c.(46-48)gTc>gCc	p.V16A	CCDC92_ENST00000545891.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	16						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGCCATGCTGACATCCAGAGG	0.632																																						ENST00000238156.3																			0				large_intestine(5)|lung(2)	7						c.(46-48)gTc>gCc		coiled-coil domain containing 92							114.0	102.0	106.0					12																	124428028		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124428028A>G	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.47T>C	12.37:g.124428028A>G	ENSP00000238156:p.Val16Ala					CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000545891.1_5'UTR	p.V16A	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	401	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		16					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.47T>C	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428672	0.43122	.	.	ENSG00000119242	ENST00000238156;ENST00000539761;ENST00000539551	T;T;T	0.55234	1.64;0.55;0.53	5.77	4.62	0.57501	.	0.165377	0.53938	N	0.000044	T	0.39733	0.1089	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17531	-1.0366	10	0.31617	T	0.26	-6.7798	8.4781	0.33025	0.7971:0.0:0.2029:0.0	.	16	Q53HC0	CCD92_HUMAN	A	16	ENSP00000238156:V16A;ENSP00000439441:V16A;ENSP00000442369:V16A	ENSP00000238156:V16A	V	-	2	0	CCDC92	122993981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.875000	0.39578	1.006000	0.39211	0.459000	0.35465	GTC		0.632	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		15	645	0	0	0	1	0	15	645				
SLC7A10	56301	broad.mit.edu	37	19	33701722	33701722	+	Missense_Mutation	SNP	C	C	A	rs567777677		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33701722C>A	ENST00000253188.4	-	8	1245	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	367					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACGAGGAGGGCGGGGATGGGG	0.667																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(1099-1101)Gcc>Tcc		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							52.0	49.0	50.0					19																	33701722		2202	4296	6498	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33701722C>A	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1099G>T	19.37:g.33701722C>A	ENSP00000253188:p.Ala367Ser						p.A367S	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			8	1245	-	Esophageal squamous(110;0.137)		367					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.1099G>T	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725940	0.69074	.	.	ENSG00000130876	ENST00000253188	D	0.91521	-2.86	5.08	5.08	0.68730	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.90735	0.4645	10	0.16896	T	0.51	.	17.8044	0.88598	0.0:1.0:0.0:0.0	.	367;214	Q9NS82;Q9NWI3	AAA1_HUMAN;.	S	367	ENSP00000253188:A367S	ENSP00000253188:A367S	A	-	1	0	SLC7A10	38393562	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.590000	0.82653	2.536000	0.85505	0.491000	0.48974	GCC		0.667	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		125	507	1	0	8.20597e-53	1	1.02137e-52	125	507				
PRR5	55615	broad.mit.edu	37	22	45132743	45132743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45132743C>T	ENST00000336985.6	+	8	1060	c.783C>T	c.(781-783)aaC>aaT	p.N261N	PRR5_ENST00000403581.1_Silent_p.N284N|PRR5_ENST00000006251.7_Silent_p.N252N|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000352766.7_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	261					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CTCTGCTGAACCCCGTGCAGG	0.692																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(850-852)aaC>aaT		proline rich 5 (renal)							32.0	39.0	37.0					22																	45132743		2199	4291	6490	SO:0001819	synonymous_variant	55615							g.chr22:45132743C>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.783C>T	22.37:g.45132743C>T						PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Silent_p.N261N|ARHGAP8_ENST00000517296.3_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron	p.N284N	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	10	1461	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	c.852C>T	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558343	0.27827	.	.	ENSG00000186654	ENST00000455389	.	.	.	5.41	3.19	0.36642	.	.	.	.	.	T	0.52629	0.1746	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	.	4.884	0.13694	0.1335:0.5366:0.2472:0.0827	.	.	.	.	I	221	.	.	T	+	2	0	PRR5	43511407	0.943000	0.32029	1.000000	0.80357	0.896000	0.52359	0.073000	0.14640	1.267000	0.44247	0.313000	0.20887	ACC		0.692	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		114	416	0	0	0	1	0	114	416				
PCSK1	5122	broad.mit.edu	37	5	95761565	95761565	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95761565T>G	ENST00000311106.3	-	3	592	c.355A>C	c.(355-357)Aat>Cat	p.N119H	PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	119					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGAAGAGATTTAGTGCTGAG	0.408																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(355-357)Aat>Cat		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						183.0	160.0	168.0					5																	95761565		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95761565T>G		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.355A>C	5.37:g.95761565T>G	ENSP00000308024:p.Asn119His					CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H	p.N119H	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	3	592	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	119					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.355A>C	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	T	9.325	1.059137	0.19987	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.67523	-0.12;-0.27;0.44	5.63	1.59	0.23543	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.178406	0.64402	D	0.000015	T	0.55940	0.1952	L	0.53561	1.675	0.31961	N	0.608354	B	0.06786	0.001	B	0.06405	0.002	T	0.54516	-0.8282	10	0.20519	T	0.43	-13.2118	10.1792	0.42957	0.0:0.2174:0.0:0.7826	.	119	P29120	NEC1_HUMAN	H	119;72;119	ENSP00000308024:N119H;ENSP00000421600:N72H;ENSP00000427294:N119H	ENSP00000308024:N119H	N	-	1	0	PCSK1	95787321	1.000000	0.71417	0.825000	0.32803	0.590000	0.36582	3.129000	0.50500	0.403000	0.25479	0.533000	0.62120	AAT		0.408	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		52	216	0	0	0	1	0	52	216				
ST3GAL4	6484	broad.mit.edu	37	11	126283899	126283899	+	Missense_Mutation	SNP	G	G	A	rs143689441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126283899G>A	ENST00000526727.1	+	10	1333	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	320					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCCATTAAGCGGATGCTGGAG	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		19414	0.0		0.002	False		,,,				2504	0.001					ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(958-960)cGg>cAg		ST3 beta-galactoside alpha-2,3-sialyltransferase 4		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	122.0	112.0	115.0		947	5.6	1.0	11	dbSNP_134	115	18,8576	13.3+/-46.6	0,18,4279	yes	missense	ST3GAL4	NM_006278.1	43	0,19,6479	AA,AG,GG		0.2094,0.0227,0.1462	probably-damaging	316/330	126283899	19,12977	2201	4297	6498	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126283899G>A	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.959G>A	11.37:g.126283899G>A	ENSP00000436047:p.Arg320Gln					ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q	p.R320Q			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	10	1333	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	320					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.959G>A	CCDS58193.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.49	3.837154	0.71373	2.27E-4	0.002094	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.63	5.63	0.86233	.	.	.	.	.	T	0.39064	0.1064	L	0.43152	1.355	0.38415	D	0.946021	D;D	0.67145	0.996;0.996	P;P	0.56563	0.801;0.801	T	0.12451	-1.0547	9	0.32370	T	0.25	.	12.2135	0.54394	0.0781:0.0:0.9219:0.0	.	316;320	Q6IBE6;Q11206	.;SIA4C_HUMAN	Q	316;320;326;316;320;320;320;309;319;315	ENSP00000227495:R316Q;ENSP00000394354:R320Q;ENSP00000348451:R326Q;ENSP00000433989:R316Q;ENSP00000433318:R320Q;ENSP00000376437:R320Q;ENSP00000436047:R320Q;ENSP00000399444:R309Q;ENSP00000434349:R319Q;ENSP00000434668:R315Q	ENSP00000227495:R316Q	R	+	2	0	ST3GAL4	125789109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.864000	0.48404	2.656000	0.90262	0.561000	0.74099	CGG		0.572	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		39	217	0	0	0	1	0	39	217				
SEMA5A	9037	broad.mit.edu	37	5	9197373	9197373	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9197373G>A	ENST00000382496.5	-	10	1640	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	325	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCGCGATGGCGCTCAGGTTGA	0.597																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(973-975)agC>agT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							80.0	80.0	80.0					5																	9197373		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197373G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.975C>T	5.37:g.9197373G>A							p.S325S	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			10	1640	-			325			Sema.		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.975C>T	CCDS3875.1																																																																																				0.597	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			123	498	0	0	0	1	0	123	498				
MYH15	22989	broad.mit.edu	37	3	108133184	108133184	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108133184G>T	ENST00000273353.3	-	31	4156	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1367						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCAGCTCAGCCTTGACCTC	0.507																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(4099-4101)gCt>gAt		myosin, heavy chain 15							156.0	151.0	153.0					3																	108133184		2071	4208	6279	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108133184G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4100C>A	3.37:g.108133184G>T	ENSP00000273353:p.Ala1367Asp						p.A1367D	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			31	4156	-			1367						Missense_Mutation	SNP	ENST00000273353.3	37	c.4100C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072263	0.55646	.	.	ENSG00000144821	ENST00000273353	T	0.78707	-1.2	5.26	1.22	0.21188	Myosin tail (1);	.	.	.	.	T	0.81235	0.4780	M	0.76838	2.35	0.39373	D	0.966114	P	0.37276	0.589	P	0.47786	0.557	T	0.79276	-0.1870	9	0.87932	D	0	.	8.4031	0.32599	0.1342:0.2374:0.6284:0.0	.	1367	Q9Y2K3	MYH15_HUMAN	D	1367	ENSP00000273353:A1367D	ENSP00000273353:A1367D	A	-	2	0	MYH15	109615874	0.589000	0.26807	0.024000	0.17045	0.616000	0.37450	1.068000	0.30629	0.004000	0.14682	-0.150000	0.13652	GCT		0.507	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		33	240	1	0	9.78306e-22	1	1.1038e-21	33	240				
HSPD1	3329	broad.mit.edu	37	2	198361910	198361910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198361910G>A	ENST00000388968.3	-	3	648	c.381C>T	c.(379-381)ggC>ggT	p.G127G	HSPD1_ENST00000345042.2_Silent_p.G127G|HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.G127G	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	127					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTCTCGAAGCCTTCCTTGG	0.453																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(379-381)ggC>ggT		heat shock 60kDa protein 1 (chaperonin)							124.0	117.0	119.0					2																	198361910		2203	4300	6503	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198361910G>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.381C>T	2.37:g.198361910G>A						HSPD1_ENST00000544407.1_Silent_p.G127G|HSPD1_ENST00000345042.2_Silent_p.G127G	p.G127G	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		3	648	-			127					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.381C>T	CCDS33357.1																																																																																				0.453	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		81	375	0	0	0	1	0	81	375				
MUC16	94025	broad.mit.edu	37	19	9090171	9090171	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090171G>T	ENST00000397910.4	-	1	1847	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	548	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGATGCTGGGGGTCTCTCTG	0.527																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1642-1644)ccC>ccA		mucin 16, cell surface associated							73.0	72.0	73.0					19																	9090171		2043	4209	6252	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090171G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1644C>A	19.37:g.9090171G>T							p.P548P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1847	-			548			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1644C>A	CCDS54212.1																																																																																				0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	242	1	0	6.08268e-21	1	6.83416e-21	49	242				
MICAL1	64780	broad.mit.edu	37	6	109768373	109768373	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768373G>T	ENST00000358807.3	-	17	2441	c.2130C>A	c.(2128-2130)ctC>ctA	p.L710L	MICAL1_ENST00000358577.3_Silent_p.L624L|MICAL1_ENST00000368952.4_Silent_p.L729L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	710	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CGTTGACACAGAGGCGTTCCA	0.627																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2185-2187)ctC>ctA		microtubule associated monooxygenase, calponin and LIM domain containing 1							122.0	122.0	122.0					6																	109768373		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768373G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2130C>A	6.37:g.109768373G>T						MICAL1_ENST00000358807.3_Silent_p.L710L|MICAL1_ENST00000358577.3_Silent_p.L624L	p.L729L			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	17	2477	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	710			LIM zinc-binding.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2187C>A	CCDS5076.1																																																																																				0.627	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		81	500	1	0	2.18481e-45	1	2.67909e-45	81	500				
INTS7	25896	broad.mit.edu	37	1	212180785	212180785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212180785G>A	ENST00000366994.3	-	6	667	c.563C>T	c.(562-564)gCg>gTg	p.A188V	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	188					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TACTGGTGTCGCTAAACCTAG	0.383																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(562-564)gCg>gTg		integrator complex subunit 7							99.0	90.0	93.0					1																	212180785		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180785G>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.563C>T	1.37:g.212180785G>A	ENSP00000355961:p.Ala188Val					INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V|INTS7_ENST00000469606.1_5'UTR	p.A188V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	6	667	-			188					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.563C>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068795	0.55539	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.148508	0.64402	D	0.000012	T	0.35128	0.0921	L	0.43923	1.385	0.54753	D	0.99998	P;P;P;P	0.50443	0.935;0.935;0.935;0.935	P;P;P;P	0.44772	0.46;0.46;0.46;0.46	T	0.01460	-1.1349	10	0.37606	T	0.19	-9.9486	20.5792	0.99380	0.0:0.0:1.0:0.0	.	139;188;188;188	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	V	188;188;188;139	ENSP00000355961:A188V;ENSP00000355960:A188V;ENSP00000355959:A188V;ENSP00000388908:A139V	ENSP00000355959:A188V	A	-	2	0	INTS7	210247408	1.000000	0.71417	0.885000	0.34714	0.036000	0.12997	5.077000	0.64419	2.873000	0.98535	0.561000	0.74099	GCG		0.383	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		56	291	0	0	0	1	0	56	291				
APBA1	320	broad.mit.edu	37	9	72067200	72067200	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72067200C>A	ENST00000265381.4	-	9	2028	c.1806G>T	c.(1804-1806)caG>caT	p.Q602H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	602	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCCGATGGACTGTGCAATCA	0.557																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1804-1806)caG>caT		amyloid beta (A4) precursor protein-binding, family A, member 1							119.0	93.0	101.0					9																	72067200		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72067200C>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1806G>T	9.37:g.72067200C>A	ENSP00000265381:p.Gln602His						p.Q602H	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			9	2028	-			602			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1806G>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.650194	0.67472	.	.	ENSG00000107282	ENST00000265381	T	0.21191	2.02	5.24	2.38	0.29361	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.42120	-0.9470	10	0.87932	D	0	-15.9216	11.3888	0.49802	0.0:0.7916:0.0:0.2084	.	602	Q02410	APBA1_HUMAN	H	602	ENSP00000265381:Q602H	ENSP00000265381:Q602H	Q	-	3	2	APBA1	71257020	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.631000	0.46502	0.732000	0.32470	-0.726000	0.03593	CAG		0.557	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		39	271	1	0	3.61848e-18	1	4.01023e-18	39	271				
TMPRSS12	283471	broad.mit.edu	37	12	51279109	51279109	+	Nonsense_Mutation	SNP	G	G	T	rs201837185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51279109G>T	ENST00000398458.3	+	4	765	c.733G>T	c.(733-735)Gga>Tga	p.G245*	TMPRSS12_ENST00000551456.1_Nonsense_Mutation_p.G245*	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	245	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GAGTTATGGGGGAATAATTCC	0.343																																						ENST00000551456.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						c.(733-735)Gga>Tga		transmembrane (C-terminal) protease, serine 12							180.0	173.0	175.0					12																	51279109		1842	4093	5935	SO:0001587	stop_gained	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51279109G>T	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.733G>T	12.37:g.51279109G>T	ENSP00000381476:p.Gly245*					TMPRSS12_ENST00000398458.3_Nonsense_Mutation_p.G245*	p.G245*			Q86WS5	TMPSC_HUMAN			4	778	+			245			Peptidase S1.		B9ZVX2	Nonsense_Mutation	SNP	ENST00000398458.3	37	c.733G>T	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695336	0.48202	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	.	.	.	5.22	3.4	0.38934	.	0.539313	0.16944	N	0.193191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.5652	8.296	0.31986	0.1833:0.0:0.8167:0.0	.	.	.	.	X	245	.	ENSP00000381476:G245X	G	+	1	0	TMPRSS12	49565376	0.336000	0.24757	0.001000	0.08648	0.129000	0.20672	2.251000	0.43187	0.706000	0.31912	0.557000	0.71058	GGA		0.343	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		48	686	1	0	3.86236e-30	1	4.52529e-30	48	686				
ACTBL2	345651	broad.mit.edu	37	5	56778460	56778460	+	Silent	SNP	G	G	A	rs374948712		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56778460G>A	ENST00000423391.1	-	1	176	c.75C>T	c.(73-75)gaC>gaT	p.D25D	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	25						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D25D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGGGGGCATCGTCACCACCAA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20616	0.0		0.0	False		,,,				2504	0.0					ENST00000423391.1																			1	Substitution - coding silent(1)	p.D25D(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(73-75)gaC>gaT		actin, beta-like 2		G		3,4403	6.2+/-15.9	0,3,2200	85.0	58.0	67.0		75	-6.9	0.6	5		67	0,8600		0,0,4300	no	coding-synonymous	ACTBL2	NM_001017992.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		25/377	56778460	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778460G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.75C>T	5.37:g.56778460G>A						CTD-2023N9.1_ENST00000506106.1_RNA	p.D25D	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	176	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	25					B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	37	c.75C>T	CCDS34163.1																																																																																				0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		35	182	0	0	0	1	0	35	182				
MAGEE2	139599	broad.mit.edu	37	X	75004464	75004464	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75004464C>T	ENST00000373359.2	-	1	615	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	141	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGGTTCAACCCAAAGACCT	0.517																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(421-423)ggG>ggA		melanoma antigen family E, 2							32.0	28.0	30.0					X																	75004464		2203	4300	6503	SO:0001819	synonymous_variant	139599							g.chrX:75004464C>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.423G>A	X.37:g.75004464C>T							p.G141G	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	615	-			141			MAGE 1.		Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.423G>A	CCDS14431.1																																																																																				0.517	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		25	85	0	0	0	1	0	25	85				
MAST3	23031	broad.mit.edu	37	19	18252741	18252741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18252741C>A	ENST00000262811.6	+	20	2168	c.2168C>A	c.(2167-2169)gCt>gAt	p.A723D	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	723							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTACCTTCGCTGAAAGGAGC	0.617																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2167-2169)gCt>gAt		microtubule associated serine/threonine kinase 3							26.0	28.0	28.0					19																	18252741		2013	4182	6195	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18252741C>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2168C>A	19.37:g.18252741C>A	ENSP00000262811:p.Ala723Asp						p.A723D	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			20	2168	+			723					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2168C>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597667	0.46318	.	.	ENSG00000099308	ENST00000262811	T	0.67345	-0.26	4.88	4.88	0.63580	Protein kinase-like domain (1);	0.206159	0.41823	D	0.000806	T	0.52517	0.1739	L	0.29908	0.895	0.45852	D	0.998719	B	0.23377	0.084	B	0.19148	0.024	T	0.48559	-0.9025	10	0.13108	T	0.6	-6.6205	15.1669	0.72837	0.0:1.0:0.0:0.0	.	723	O60307	MAST3_HUMAN	D	723	ENSP00000262811:A723D	ENSP00000262811:A723D	A	+	2	0	MAST3	18113741	0.978000	0.34361	0.455000	0.27031	0.849000	0.48306	6.888000	0.75622	2.270000	0.75569	0.511000	0.50034	GCT		0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		13	47	1	0	2.27111e-07	1	2.35674e-07	13	47				
CNTD1	124817	broad.mit.edu	37	17	40958824	40958824	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40958824G>A	ENST00000588408.1	+	5	989	c.713G>A	c.(712-714)aGt>aAt	p.S238N	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Missense_Mutation_p.S155N	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	238										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCACTCCCAGTCAGCTGCAA	0.517																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(712-714)aGt>aAt		cyclin N-terminal domain containing 1							86.0	75.0	79.0					17																	40958824		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40958824G>A	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.713G>A	17.37:g.40958824G>A	ENSP00000465204:p.Ser238Asn					CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Missense_Mutation_p.S155N	p.S238N	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	5	989	+		Breast(137;0.00104)	238					Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.713G>A	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598277	0.66332	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.49	4.44	0.53790	.	0.202434	0.53938	D	0.000060	T	0.44891	0.1315	M	0.61703	1.905	0.26487	N	0.97502	P	0.47106	0.89	P	0.45232	0.474	T	0.48198	-0.9056	9	0.59425	D	0.04	-10.6058	12.565	0.56304	0.0:0.1175:0.7473:0.1352	.	238	Q8N815	CNTD1_HUMAN	N	238	.	ENSP00000316647:S238N	S	+	2	0	CNTD1	38212350	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.207000	0.32333	2.568000	0.86640	0.557000	0.71058	AGT		0.517	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		49	214	0	0	0	1	0	49	214				
PCK1	5105	broad.mit.edu	37	20	56139544	56139544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139544C>T	ENST00000319441.4	+	8	1357	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	398					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATAGGGGAACCTTGTGCCCAC	0.597																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1192-1194)cCt>cTt		phosphoenolpyruvate carboxykinase 1 (soluble)							89.0	90.0	90.0					20																	56139544		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139544C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1193C>T	20.37:g.56139544C>T	ENSP00000319814:p.Pro398Leu					PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	p.P398L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		8	1357	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		398					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1193C>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693727	0.68386	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.13307	2.6;2.6	5.65	5.65	0.86999	.	0.046303	0.85682	D	0.000000	T	0.30355	0.0762	M	0.88570	2.965	0.80722	D	1	B;B	0.34372	0.057;0.451	B;B	0.37508	0.07;0.252	T	0.11991	-1.0565	10	0.45353	T	0.12	-14.1572	19.7244	0.96157	0.0:1.0:0.0:0.0	.	81;398	B4DT64;P35558	.;PCKGC_HUMAN	L	80;398;81	ENSP00000319814:P398L;ENSP00000445767:P81L	ENSP00000319814:P398L	P	+	2	0	PCK1	55572950	0.994000	0.37717	0.842000	0.33263	0.714000	0.41099	7.345000	0.79337	2.659000	0.90383	0.655000	0.94253	CCT		0.597	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			96	378	0	0	0	1	0	96	378				
DMBX1	127343	broad.mit.edu	37	1	46976890	46976890	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46976890A>G	ENST00000360032.3	+	3	631	c.617A>G	c.(616-618)aAa>aGa	p.K206R	DMBX1_ENST00000371956.4_Missense_Mutation_p.K211R	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGGACCCCAAAGCTGAGAAG	0.662																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(631-633)aAa>aGa		diencephalon/mesencephalon homeobox 1							12.0	14.0	13.0					1																	46976890		2173	4251	6424	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976890A>G	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.617A>G	1.37:g.46976890A>G	ENSP00000353132:p.Lys206Arg					DMBX1_ENST00000360032.3_Missense_Mutation_p.K206R	p.K211R	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			3	647	+	Acute lymphoblastic leukemia(166;0.155)		211						Missense_Mutation	SNP	ENST00000360032.3	37	c.632A>G	CCDS536.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117722	0.37339	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93712	-3.19;-3.27	4.84	3.72	0.42706	.	0.138526	0.64402	D	0.000006	D	0.86719	0.6000	L	0.31926	0.97	0.51012	D	0.999908	B;B	0.21452	0.034;0.056	B;B	0.23275	0.02;0.045	T	0.79992	-0.1569	10	0.13853	T	0.58	.	9.1239	0.36803	0.9133:0.0:0.0867:0.0	.	211;206	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	R	211;206	ENSP00000361024:K211R;ENSP00000353132:K206R	ENSP00000353132:K206R	K	+	2	0	DMBX1	46749477	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	7.175000	0.77632	1.827000	0.53221	0.482000	0.46254	AAA		0.662	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			39	101	0	0	0	1	0	39	101				
MBD2	8932	broad.mit.edu	37	18	51686244	51686244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686244C>T	ENST00000256429.3	-	6	1367	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	380					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		CAATTTCTTGCGTACTTGCTG	0.403																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1138-1140)cGc>cAc		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						167.0	134.0	145.0					18																	51686244		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51686244C>T	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1139G>A	18.37:g.51686244C>T	ENSP00000256429:p.Arg380His					MBD2_ENST00000579025.1_5'UTR	p.R380H	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	6	1367	-			380					O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.1139G>A	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483729	0.84854	.	.	ENSG00000134046	ENST00000256429	D	0.99567	-6.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.98021	1.0371	10	0.87932	D	0	-11.7965	18.7698	0.91887	0.0:1.0:0.0:0.0	.	380	Q9UBB5	MBD2_HUMAN	H	380	ENSP00000256429:R380H	ENSP00000256429:R380H	R	-	2	0	MBD2	49940242	1.000000	0.71417	0.188000	0.23233	0.464000	0.32679	7.456000	0.80751	2.724000	0.93272	0.561000	0.74099	CGC		0.403	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		53	343	0	0	0	1	0	53	343				
ANK2	287	broad.mit.edu	37	4	114163362	114163362	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114163362T>C	ENST00000357077.4	+	9	941	c.888T>C	c.(886-888)acT>acC	p.T296T	ANK2_ENST00000506722.1_Silent_p.T275T|ANK2_ENST00000264366.6_Silent_p.T296T|ANK2_ENST00000394537.3_Silent_p.T296T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	296					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCCAAAACTAGGGTGAGTG	0.418																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(886-888)acT>acC		ankyrin 2, neuronal							174.0	157.0	163.0					4																	114163362		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114163362T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.888T>C	4.37:g.114163362T>C						ANK2_ENST00000506722.1_Silent_p.T275T|ANK2_ENST00000394537.3_Silent_p.T296T|ANK2_ENST00000264366.6_Silent_p.T296T	p.T296T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	9	941	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	296					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.888T>C	CCDS3702.1																																																																																				0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		48	200	0	0	0	1	0	48	200				
ADAMTS14	140766	broad.mit.edu	37	10	72500759	72500759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72500759C>T	ENST00000373207.1	+	12	1765	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R592C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	589	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTATGGAGGCCGCCTGTGCTT	0.627																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1774-1776)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							63.0	53.0	56.0					10																	72500759		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72500759C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1765C>T	10.37:g.72500759C>T	ENSP00000362303:p.Arg589Cys					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R589C	p.R592C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			12	1774	+			589			TSP type-1 1.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1774C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367801	0.82463	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.03860	3.78;3.78	5.27	5.27	0.74061	.	0.070614	0.56097	D	0.000035	T	0.26521	0.0648	M	0.90425	3.115	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.985;0.985	T	0.01848	-1.1261	10	0.87932	D	0	.	13.6385	0.62235	0.1547:0.8453:0.0:0.0	.	522;589;592	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	C	592;589	ENSP00000362304:R592C;ENSP00000362303:R589C	ENSP00000362303:R589C	R	+	1	0	ADAMTS14	72170765	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	4.316000	0.59178	2.735000	0.93741	0.655000	0.94253	CGC		0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		45	197	0	0	0	1	0	45	197				
RANGAP1	5905	broad.mit.edu	37	22	41645753	41645753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41645753C>T	ENST00000455915.2	-	13	3021	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	518					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCATGTGCACGAGCAGCCTG	0.627																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1552-1554)Gtg>Atg		Ran GTPase activating protein 1							157.0	119.0	132.0					22																	41645753		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41645753C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1552G>A	22.37:g.41645753C>T	ENSP00000401470:p.Val518Met					RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M	p.V518M			P46060	RAGP1_HUMAN			13	3021	-			518					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1552G>A	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673521	0.47781	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.56611	0.45;0.45;0.45;0.85	5.8	-0.104	0.13605	Ran-GTPase activating protein 1, C-terminal (3);	0.458253	0.25241	N	0.032087	T	0.63189	0.2490	M	0.62723	1.935	0.21147	N	0.999778	D;D	0.76494	0.999;0.995	P;D	0.63488	0.839;0.915	T	0.58912	-0.7552	10	0.87932	D	0	-8.7803	11.557	0.50755	0.0:0.4446:0.0:0.5554	.	463;518	F8W7I9;P46060	.;RAGP1_HUMAN	M	518;518;518;518;463	ENSP00000385866:V518M;ENSP00000348577:V518M;ENSP00000401470:V518M;ENSP00000385354:V463M	ENSP00000348577:V518M	V	-	1	0	RANGAP1	39975699	0.978000	0.34361	0.729000	0.30791	0.083000	0.17756	0.350000	0.20079	-0.048000	0.13401	0.655000	0.94253	GTG		0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		48	225	0	0	0	1	0	48	225				
ZNF720	124411	broad.mit.edu	37	16	31766669	31766669	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31766669C>T	ENST00000316491.9	+	4	560				ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000399681.3_Nonsense_Mutation_p.Q353*|ZNF720_ENST00000531864.2_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						ACGCCTTACTCAACATCAAAG	0.373																																						ENST00000399681.3																			0				endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						c.(1057-1059)Caa>Taa		zinc finger protein 720																																				SO:0001627	intron_variant	124411				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:31766669C>T	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+1448C>T	16.37:g.31766669C>T						ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000316491.9_Intron	p.Q353*			Q7Z2F6	ZN720_HUMAN			6	1536	+			0					Q6ZQX1	Nonsense_Mutation	SNP	ENST00000316491.9	37	c.1057C>T	CCDS45473.1	.	.	.	.	.	.	.	.	.	.	c	19.23	3.787912	0.70337	.	.	ENSG00000197302	ENST00000399681	.	.	.	0.965	-0.0324	0.13905	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	2.5879	0.04835	0.0:0.4553:0.3146:0.2301	.	.	.	.	X	353	.	ENSP00000440701:Q353X	Q	+	1	0	ZNF720	31674170	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-3.238000	0.00545	0.015000	0.14971	-0.221000	0.12465	CAA		0.373	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	NM_001004300		9	55	0	0	0	1	0	9	55				
MAU2	23383	broad.mit.edu	37	19	19465197	19465197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19465197C>T	ENST00000392313.6	+	17	1761	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	MAU2_ENST00000262815.8_Missense_Mutation_p.L528F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	528					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TGCCATGCAGCTCGCCAGCAA	0.622																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1582-1584)Ctc>Ttc		MAU2 sister chromatid cohesion factor							124.0	93.0	103.0					19																	19465197		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19465197C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1582C>T	19.37:g.19465197C>T	ENSP00000376127:p.Leu528Phe					MAU2_ENST00000262815.8_Missense_Mutation_p.L528F	p.L528F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			17	1628	+			528					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1582C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812316	0.70912	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	T	0.71108	0.3301	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.999;0.991;1.0	D;D;D	0.80764	0.994;0.986;0.993	T	0.71965	-0.4433	9	0.54805	T	0.06	.	11.4414	0.50099	0.0:0.9172:0.0:0.0828	.	104;133;528	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	F	528	.	ENSP00000262815:L528F	L	+	1	0	MAU2	19326197	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.516000	0.45520	2.605000	0.88082	0.561000	0.74099	CTC		0.622	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		31	181	0	0	0	1	0	31	181				
KREMEN1	83999	broad.mit.edu	37	22	29533635	29533635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29533635G>A	ENST00000407188.1	+	6	931	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T|KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000400338.2_Missense_Mutation_p.A313T			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	311	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CATCAATCAGGCCCAGGGATT	0.532																																						ENST00000400338.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						c.(937-939)Gcc>Acc		kringle containing transmembrane protein 1							68.0	66.0	67.0					22																	29533635		1948	4138	6086	SO:0001583	missense	0				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29533635G>A	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.931G>A	22.37:g.29533635G>A	ENSP00000385431:p.Ala311Thr					KREMEN1_ENST00000407188.1_Missense_Mutation_p.A311T|KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T	p.A313T			Q96MU8	KREM1_HUMAN			6	990	+			311			CUB.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.937G>A	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	G	31	5.079085	0.94050	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000009	T	0.45617	0.1351	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.87578	0.997;0.998;0.993	T	0.38950	-0.9637	10	0.59425	D	0.04	.	16.1477	0.81583	0.0:0.0:1.0:0.0	.	311;313;313	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	T	313;313;313;311	ENSP00000383189:A313T;ENSP00000383192:A313T;ENSP00000331242:A313T;ENSP00000385431:A311T	ENSP00000331242:A313T	A	+	1	0	KREMEN1	27863635	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.417000	0.97391	2.507000	0.84556	0.467000	0.42956	GCC		0.532	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			36	170	0	0	0	1	0	36	170				
STIL	6491	broad.mit.edu	37	1	47746463	47746463	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47746463G>T	ENST00000360380.3	-	13	2030	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	STIL_ENST00000337817.5_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y|STIL_ENST00000371877.3_Missense_Mutation_p.S556Y	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	556					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTAAGTGTGGAGGGTCTTAT	0.408																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1666-1668)tCc>tAc		SCL/TAL1 interrupting locus							132.0	145.0	141.0					1																	47746463		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746463G>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1667C>A	1.37:g.47746463G>T	ENSP00000353544:p.Ser556Tyr					STIL_ENST00000337817.5_Missense_Mutation_p.S556Y|STIL_ENST00000371877.3_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y	p.S556Y			Q15468	STIL_HUMAN			13	2030	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	556					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.1667C>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642910	0.47153	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.53423	1.98;1.98;1.99;1.97;1.98;0.62	5.1	4.18	0.49190	.	0.275883	0.35838	N	0.002956	T	0.52757	0.1754	L	0.32530	0.975	0.20196	N	0.999925	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.993;0.993	P;D;D;P;P	0.66497	0.804;0.944;0.912;0.804;0.804	T	0.40869	-0.9540	10	0.62326	D	0.03	-8.4972	10.424	0.44367	0.1501:0.0:0.8499:0.0	.	556;509;556;556;556	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	Y	556;556;556;556;556;509	ENSP00000353544:S556Y;ENSP00000337367:S556Y;ENSP00000360944:S556Y;ENSP00000379523:S556Y;ENSP00000243182:S556Y;ENSP00000411664:S509Y	ENSP00000243182:S556Y	S	-	2	0	STIL	47519050	0.997000	0.39634	0.536000	0.28039	0.760000	0.43138	3.054000	0.49908	2.383000	0.81215	0.655000	0.94253	TCC		0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		166	545	1	0	4.35918e-57	1	5.4578e-57	166	545				
HOXA4	3201	broad.mit.edu	37	7	27170305	27170305	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27170305C>T	ENST00000360046.5	-	1	113	c.48G>A	c.(46-48)aaG>aaA	p.K16K	RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Silent_p.K16K|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	16	Pro-rich (part of the transcriptional activation domain).				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGGGAGGGAACTTGGGCTCGA	0.582																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(46-48)aaG>aaA		homeobox A4							16.0	16.0	16.0					7																	27170305		2202	4298	6500	SO:0001819	synonymous_variant	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27170305C>T		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.48G>A	7.37:g.27170305C>T						HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Silent_p.K16K	p.K16K	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			1	113	-			16			Pro-rich (part of the transcriptional activation domain).		A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.48G>A	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254503	0.59212	.	.	ENSG00000197576	ENST00000548581	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9748	0.19373	0.0:0.7431:0.0:0.2569	.	.	.	.	.	-1	.	.	.	-	.	.	HOXA4	27136830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.613000	0.24299	2.115000	0.64714	0.650000	0.86243	.		0.582	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			17	73	0	0	0	1	0	17	73				
DNAJA4	55466	broad.mit.edu	37	15	78566680	78566680	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78566680G>A	ENST00000394852.3	+	4	750	c.560G>A	c.(559-561)cGc>cAc	p.R187H	DNAJA4_ENST00000394855.3_Missense_Mutation_p.R216H|DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R160H	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	187					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGGGTGAGCGCATCAACCCC	0.602																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(646-648)cGc>cAc		DnaJ (Hsp40) homolog, subfamily A, member 4							73.0	63.0	66.0					15																	78566680		2196	4293	6489	SO:0001583	missense	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78566680G>A	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.560G>A	15.37:g.78566680G>A	ENSP00000378321:p.Arg187His					DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R160H|DNAJA4_ENST00000394852.3_Missense_Mutation_p.R187H	p.R216H	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			5	875	+			187					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.647G>A	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912019	0.52439	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.63744	0.16;0.16;0.16;-0.06	5.63	4.71	0.59529	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.047080	0.85682	D	0.000000	T	0.61098	0.2320	M	0.74258	2.255	0.46011	D	0.998812	B;B;B;B	0.29212	0.211;0.07;0.237;0.093	B;B;B;B	0.27608	0.052;0.052;0.081;0.03	T	0.58853	-0.7563	10	0.16420	T	0.52	-2.4379	15.7352	0.77837	0.0:0.1366:0.8634:0.0	.	102;160;187;216	Q9P1H1;E9PDM9;Q8WW22;Q8WW22-2	.;.;DNJA4_HUMAN;.	H	216;187;187;160	ENSP00000378324:R216H;ENSP00000339581:R187H;ENSP00000378321:R187H;ENSP00000413499:R160H	ENSP00000339581:R187H	R	+	2	0	DNAJA4	76353735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.249000	0.65427	1.366000	0.46076	0.655000	0.94253	CGC		0.602	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		9	352	0	0	0	1	0	9	352				
TLR3	7098	broad.mit.edu	37	4	187004176	187004176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187004176G>T	ENST00000296795.3	+	4	1440	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*	TLR3_ENST00000504367.1_Nonsense_Mutation_p.E169*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	446					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E446*(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AATTGGGCAAGAACTCACAGG	0.423																																						ENST00000296795.2																			1	Substitution - Nonsense(1)	p.E446*(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1336-1338)Gaa>Taa		toll-like receptor 3							63.0	60.0	61.0					4																	187004176		2203	4300	6503	SO:0001587	stop_gained	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004176G>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1336G>T	4.37:g.187004176G>T	ENSP00000296795:p.Glu446*					TLR3_ENST00000504367.1_Nonsense_Mutation_p.E169*	p.E446*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1440	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	446					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Nonsense_Mutation	SNP	ENST00000296795.3	37	c.1336G>T	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	37	6.300725	0.97453	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	.	.	.	5.78	2.94	0.34122	.	0.508073	0.24012	N	0.042375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	3.6193	0.08089	0.2006:0.1151:0.5659:0.1184	.	.	.	.	X	446;446;169	.	ENSP00000296795:E446X	E	+	1	0	TLR3	187241170	0.361000	0.24972	0.991000	0.47740	0.946000	0.59487	1.072000	0.30678	0.766000	0.33244	0.557000	0.71058	GAA		0.423	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			51	283	1	0	2.87258e-10	1	3.04245e-10	51	283				
SLC14A2	8170	broad.mit.edu	37	18	43262376	43262376	+	Silent	SNP	G	G	T	rs143610580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43262376G>T	ENST00000255226.6	+	20	3471	c.2655G>T	c.(2653-2655)ccG>ccT	p.P885P	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.P885P|SLC14A2_ENST00000589658.1_Silent_p.P362P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	885					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.P885P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAGCTCCCGCTCAGCAAAG	0.542																																						ENST00000255226.6																			1	Substitution - coding silent(1)	p.P885P(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2653-2655)ccG>ccT		solute carrier family 14 (urea transporter), member 2							250.0	240.0	244.0					18																	43262376		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43262376G>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2655G>T	18.37:g.43262376G>T						RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.P885P|SLC14A2_ENST00000589658.1_Silent_p.P362P	p.P885P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			20	3471	+			885					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.2655G>T	CCDS11924.1																																																																																				0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			184	800	1	0	2.26964e-86	1	2.91009e-86	184	800				
APOBEC3D	140564	broad.mit.edu	37	22	39418964	39418964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39418964C>T	ENST00000216099.8	+	2	562	c.155C>T	c.(154-156)aCa>aTa	p.T52I	APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I|APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	52					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTTTGGGACACAGGGGTCTTT	0.493																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(154-156)aCa>aTa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							53.0	60.0	58.0					22																	39418964		2203	4300	6503	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39418964C>T	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.155C>T	22.37:g.39418964C>T	ENSP00000216099:p.Thr52Ile					APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I|APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I	p.T52I	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			2	562	+	Melanoma(58;0.04)		52					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.155C>T	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.849772	0.32699	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.64260	-0.09;-0.09;0.03	2.36	-4.72	0.03269	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.51058	0.1652	L	0.39898	1.24	0.09310	N	1	P;D;P	0.54397	0.684;0.966;0.501	B;P;B	0.48368	0.326;0.575;0.109	T	0.48703	-0.9012	9	0.52906	T	0.07	.	4.8818	0.13683	0.4815:0.2903:0.2282:0.0	.	52;52;52	B2CML4;Q6ICH2;Q96AK3	.;.;ABC3D_HUMAN	I	52	ENSP00000370980:T52I;ENSP00000216099:T52I;ENSP00000388017:T52I	ENSP00000216099:T52I	T	+	2	0	APOBEC3D	37748910	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-3.192000	0.00564	-1.504000	0.01810	0.485000	0.47835	ACA		0.493	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		75	350	0	0	0	1	0	75	350				
ZNF770	54989	broad.mit.edu	37	15	35273720	35273720	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35273720T>C	ENST00000356321.4	-	3	2260	c.1916A>G	c.(1915-1917)aAa>aGa	p.K639R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	639					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTTTCCAGTTTAGATGGAGA	0.423																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1915-1917)aAa>aGa		zinc finger protein 770							146.0	134.0	138.0					15																	35273720		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35273720T>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1916A>G	15.37:g.35273720T>C	ENSP00000348673:p.Lys639Arg						p.K639R	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	2260	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	639					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.1916A>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611236	0.46631	.	.	ENSG00000198146	ENST00000356321	T	0.27890	1.64	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	N	0.11364	0.135	0.23716	N	0.997036	P	0.48503	0.911	P	0.54460	0.753	T	0.13045	-1.0524	10	0.15066	T	0.55	-13.6585	10.5307	0.44975	0.0:0.0751:0.0:0.9249	.	639	Q6IQ21	ZN770_HUMAN	R	639	ENSP00000348673:K639R	ENSP00000348673:K639R	K	-	2	0	ZNF770	33061012	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.295000	0.51794	2.219000	0.72066	0.460000	0.39030	AAA		0.423	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		111	511	0	0	0	1	0	111	511				
NBAS	51594	broad.mit.edu	37	2	15601859	15601859	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15601859C>T	ENST00000281513.5	-	20	2179	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	NBAS_ENST00000441750.1_Silent_p.K718K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	718					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTGAATTTCTTAAAGAATT	0.308																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2152-2154)aaG>aaA		neuroblastoma amplified sequence							28.0	29.0	29.0					2																	15601859		2201	4289	6490	SO:0001819	synonymous_variant	51594							g.chr2:15601859C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2154G>A	2.37:g.15601859C>T						NBAS_ENST00000441750.1_Silent_p.K718K	p.K718K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			20	2179	-			718					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.2154G>A	CCDS1685.1																																																																																				0.308	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		21	102	0	0	0	1	0	21	102				
PIPSL	266971	broad.mit.edu	37	10	95720635	95720635	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720635G>T	ENST00000480546.1	-	0	662					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ACAGTCCATAGAATTTAGGCA	0.428																																						ENST00000480546.1																			0																																																			0							g.chr10:95720635G>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720635G>T								NR_002319.2						0	662	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.428	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		101	349	1	0	1.04275e-50	1	1.2925e-50	101	349				
LHX3	8022	broad.mit.edu	37	9	139091657	139091657	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139091657C>A	ENST00000371748.5	-	3	417	c.321G>T	c.(319-321)caG>caT	p.Q107H	LHX3_ENST00000371746.3_Missense_Mutation_p.Q112H	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	107	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACACGAAGTCCTGGGCGCGGC	0.706																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(334-336)caG>caT		LIM homeobox 3							24.0	21.0	22.0					9																	139091657		2202	4298	6500	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091657C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.321G>T	9.37:g.139091657C>A	ENSP00000360813:p.Gln107His					LHX3_ENST00000371748.5_Missense_Mutation_p.Q107H	p.Q112H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	3	454	-		Myeloproliferative disorder(178;0.0511)	107			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.336G>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348179	0.61183	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87729	-2.29;-2.29	4.35	2.34	0.29019	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	L	0.46670	1.46	0.80722	D	1	D;B	0.76494	0.999;0.094	D;B	0.71870	0.975;0.193	D	0.88054	0.2789	10	0.52906	T	0.07	.	10.3249	0.43787	0.0:0.8094:0.0:0.1906	.	107;112	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	107;112;110	ENSP00000360813:Q107H;ENSP00000360811:Q112H	ENSP00000319224:Q110H	Q	-	3	2	LHX3	138231478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.773000	0.38563	1.063000	0.40649	-0.221000	0.12465	CAG		0.706	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			25	109	1	0	4.26978e-12	1	4.57227e-12	25	109				
C8A	731	broad.mit.edu	37	1	57378188	57378188	+	Missense_Mutation	SNP	G	G	A	rs559111946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57378188G>A	ENST00000361249.3	+	10	1589	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	498	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.R498Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGCCTGCCGATGTGGGCCT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17985	0.0		0.001	False		,,,				2504	0.0					ENST00000361249.3																			1	Substitution - Missense(1)	p.R498Q(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1492-1494)cGa>cAa		complement component 8, alpha polypeptide							89.0	92.0	91.0					1																	57378188		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378188G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1493G>A	1.37:g.57378188G>A	ENSP00000354458:p.Arg498Gln						p.R498Q	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			10	1589	+			498			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1493G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020350	0.93462	.	.	ENSG00000157131	ENST00000361249	D	0.86562	-2.14	5.73	5.73	0.89815	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93131	0.6533	10	0.62326	D	0.03	-18.9819	18.0789	0.89436	0.0:0.0:1.0:0.0	.	498	P07357	CO8A_HUMAN	Q	498	ENSP00000354458:R498Q	ENSP00000354458:R498Q	R	+	2	0	C8A	57150776	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.424000	0.80242	2.713000	0.92767	0.655000	0.94253	CGA		0.632	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		145	512	0	0	0	1	0	145	512				
FOXG1	2290	broad.mit.edu	37	14	29237629	29237629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29237629G>A	ENST00000313071.4	+	1	1343	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	FOXG1_ENST00000382535.3_Missense_Mutation_p.A382T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	382					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTCACGGCCGCCGCGCTAGC	0.701																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1144-1146)Gcc>Acc		forkhead box G1							41.0	36.0	38.0					14																	29237629		2202	4297	6499	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237629G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1144G>A	14.37:g.29237629G>A	ENSP00000339004:p.Ala382Thr					FOXG1_ENST00000313071.4_Missense_Mutation_p.A382T	p.A382T			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1513	+			382					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1144G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886739	0.33348	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93811	-3.29;-3.29	4.21	4.21	0.49690	.	0.132985	0.49305	U	0.000146	D	0.88533	0.6462	N	0.19112	0.55	0.53005	D	0.999967	D	0.57899	0.981	B	0.44315	0.446	D	0.87944	0.2719	10	0.28530	T	0.3	.	16.9273	0.86180	0.0:0.0:1.0:0.0	.	382	P55316	FOXG1_HUMAN	T	382	ENSP00000371975:A382T;ENSP00000339004:A382T	ENSP00000339004:A382T	A	+	1	0	FOXG1	28307380	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.678000	0.98647	2.042000	0.60477	0.491000	0.48974	GCC		0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			80	263	0	0	0	1	0	80	263				
LGSN	51557	broad.mit.edu	37	6	64004878	64004878	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004878C>A	ENST00000370657.4	-	2	136	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	LGSN_ENST00000370658.5_Missense_Mutation_p.V35F			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	35					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTAGTGACTTTCTTCCTT	0.383																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(103-105)Gtc>Ttc		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						273.0	247.0	256.0					6																	64004878		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004878C>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.103G>T	6.37:g.64004878C>A	ENSP00000359691:p.Val35Phe					LGSN_ENST00000370657.4_Missense_Mutation_p.V35F	p.V35F	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			2	136	-			35					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.103G>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741295	0.30865	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.31510	1.49;1.58	4.71	3.81	0.43845	.	0.617997	0.16143	N	0.227638	T	0.31734	0.0806	M	0.61703	1.905	0.30343	N	0.785487	D;P;B	0.63046	0.992;0.828;0.435	P;P;B	0.59487	0.858;0.576;0.303	T	0.13019	-1.0525	10	0.72032	D	0.01	-5.3792	9.4806	0.38898	0.0:0.8938:0.0:0.1062	.	35;35;35	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	F	35	ENSP00000359692:V35F;ENSP00000359691:V35F	ENSP00000359691:V35F	V	-	1	0	LGSN	64062837	0.993000	0.37304	0.991000	0.47740	0.050000	0.14768	1.937000	0.40193	1.041000	0.40125	0.591000	0.81541	GTC		0.383	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		61	342	1	0	4.88506e-25	1	5.59823e-25	61	342				
ARHGAP15	55843	broad.mit.edu	37	2	143974006	143974006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143974006G>A	ENST00000295095.6	+	4	455	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ARHGAP15_ENST00000409869.1_Silent_p.K96K	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	96	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATGGAGGAAAGAAACTAAGGT	0.338																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(286-288)aaG>aaA		Rho GTPase activating protein 15							76.0	80.0	79.0					2																	143974006		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143974006G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.288G>A	2.37:g.143974006G>A						ARHGAP15_ENST00000295095.6_Silent_p.K96K	p.K96K			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	5	465	+			96			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.288G>A	CCDS2184.1																																																																																				0.338	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		23	219	0	0	0	1	0	23	219				
MET	4233	broad.mit.edu	37	7	116340022	116340022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116340022C>A	ENST00000318493.6	+	2	1071	c.884C>A	c.(883-885)cCt>cAt	p.P295H	MET_ENST00000397752.3_Missense_Mutation_p.P295H|MET_ENST00000436117.2_Missense_Mutation_p.P295H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGGAAATGCCTCTGGAGTGT	0.428			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(883-885)cCt>cAt		met proto-oncogene							84.0	79.0	81.0					7																	116340022		1844	4092	5936	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340022C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.884C>A	7.37:g.116340022C>A	ENSP00000317272:p.Pro295His					MET_ENST00000436117.2_Missense_Mutation_p.P295H|MET_ENST00000318493.6_Missense_Mutation_p.P295H	p.P295H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1084	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	295			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.884C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713994	0.30413	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.10860	2.83;2.83;2.83	6.17	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100208	0.64402	D	0.000001	T	0.42494	0.1205	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.954;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.55029	-0.8204	10	0.72032	D	0.01	.	17.0009	0.86381	0.1285:0.8715:0.0:0.0	.	295;295;295;295;295;295;295;295;295;295;295;295;295	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	H	295	ENSP00000380860:P295H;ENSP00000317272:P295H;ENSP00000410980:P295H	ENSP00000317272:P295H	P	+	2	0	MET	116127258	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	5.637000	0.67854	1.606000	0.50161	-0.182000	0.12963	CCT		0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			96	435	1	0	1.07466e-44	1	1.31567e-44	96	435				
CD248	57124	broad.mit.edu	37	11	66083499	66083499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66083499C>T	ENST00000311330.3	-	1	1016	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	334	EGF-like; calcium-binding. {ECO:0000255}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CAATAACACTCGAAGCCACCA	0.607																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1000-1002)Gag>Aag		CD248 molecule, endosialin	Cefalotin(DB00456)						64.0	51.0	56.0					11																	66083499		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083499C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1000G>A	11.37:g.66083499C>T	ENSP00000308117:p.Glu334Lys					RP11-867G23.13_ENST00000534065.1_RNA	p.E334K	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1016	-			334			EGF-like; calcium-binding (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1000G>A	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611796	0.66558	.	.	ENSG00000174807	ENST00000311330	D	0.92149	-2.98	4.56	4.56	0.56223	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	1.102050	0.07089	N	0.838496	D	0.93360	0.7883	L	0.27975	0.815	0.41655	D	0.989157	D	0.76494	0.999	D	0.69654	0.965	D	0.88052	0.2788	10	0.39692	T	0.17	-13.7102	14.8448	0.70251	0.0:1.0:0.0:0.0	.	334	Q9HCU0	CD248_HUMAN	K	334	ENSP00000308117:E334K	ENSP00000308117:E334K	E	-	1	0	CD248	65840075	0.943000	0.32029	0.996000	0.52242	0.741000	0.42261	1.916000	0.39986	2.350000	0.79820	0.462000	0.41574	GAG		0.607	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		45	171	0	0	0	1	0	45	171				
POT1	25913	broad.mit.edu	37	7	124464052	124464052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124464052C>T	ENST00000357628.3	-	19	2467	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	POT1_ENST00000393329.1_Silent_p.Q492Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	623			Q -> H (in CMM10; increased telomere intensity signals and telomere fragility). {ECO:0000269|PubMed:24686846}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGTCAAAAATCTGATAGCAAA	0.343																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1867-1869)caG>caA		protection of telomeres 1							189.0	163.0	172.0					7																	124464052		2201	4299	6500	SO:0001819	synonymous_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124464052C>T	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1869G>A	7.37:g.124464052C>T						POT1_ENST00000393329.1_Silent_p.Q492Q	p.Q623Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			19	2467	-			623					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Silent	SNP	ENST00000357628.3	37	c.1869G>A	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924143	0.18056	.	.	ENSG00000128513	ENST00000436534	.	.	.	5.95	2.16	0.27623	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-10.601	7.4549	0.27261	0.0:0.6136:0.0:0.3864	.	.	.	.	N	122	.	.	D	-	1	0	POT1	124251288	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.186000	0.16978	0.862000	0.35528	0.655000	0.94253	GAT		0.343	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			7	120	0	0	0	1	0	7	120				
MGAT1	4245	broad.mit.edu	37	5	180218780	180218780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180218780C>T	ENST00000446023.2	-	3	1942	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	398					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCCTTGGCGAAAGCCTTG	0.617																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(1192-1194)Gcc>Acc		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							76.0	69.0	71.0					5																	180218780		2203	4300	6503	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180218780C>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1192G>A	5.37:g.180218780C>T	ENSP00000404718:p.Ala398Thr					MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T	p.A398T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1942	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	398					A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.1192G>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355865	0.82243	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.51055	0.657	D	0.85120	0.0968	10	0.18276	T	0.48	-21.9415	15.8674	0.79074	0.0:1.0:0.0:0.0	.	398	P26572	MGAT1_HUMAN	T	398;398;398;398;255;398	ENSP00000332073:A398T;ENSP00000311888:A398T;ENSP00000404718:A398T;ENSP00000377010:A398T;ENSP00000402838:A398T	ENSP00000311888:A398T	A	-	1	0	MGAT1	180151386	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	6.840000	0.75369	2.692000	0.91855	0.655000	0.94253	GCC		0.617	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		92	247	0	0	0	1	0	92	247				
SMUG1	23583	broad.mit.edu	37	12	54575966	54575966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54575966G>A	ENST00000508394.2	-	3	789	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514685.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	243					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						TGTGGGTTACGGGGAGAGGGA	0.642								Base excision repair (BER), DNA glycosylases																														ENST00000508394.2																			0				kidney(1)|large_intestine(4)|lung(1)	6						c.(727-729)Cgt>Tgt	Base excision repair (BER), DNA glycosylases	single-strand-selective monofunctional uracil-DNA glycosylase 1							58.0	63.0	62.0					12																	54575966		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54575966G>A	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.727C>T	12.37:g.54575966G>A	ENSP00000424191:p.Arg243Cys					SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514196.1_Intron	p.R243C	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN			3	789	-			243					A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.727C>T	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459475	0.43736	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977	T;T;T	0.56444	0.46;0.46;0.46	4.73	3.84	0.44239	Uracil-DNA glycosylase-like (3);	0.048032	0.85682	N	0.000000	T	0.68357	0.2992	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.68868	-0.5295	10	0.49607	T	0.09	.	7.3843	0.26874	0.0874:0.0:0.7468:0.1658	.	243	Q53HV7	SMUG1_HUMAN	C	243	ENSP00000338606:R243C;ENSP00000424191:R243C;ENSP00000384828:R243C	ENSP00000338606:R243C	R	-	1	0	SMUG1	52862233	1.000000	0.71417	0.362000	0.25862	0.853000	0.48598	4.942000	0.63547	1.121000	0.41925	-0.136000	0.14681	CGT		0.642	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		86	466	0	0	0	1	0	86	466				
MAP10	54627	broad.mit.edu	37	1	232941539	232941539	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232941539C>A	ENST00000418460.1	+	1	897	c.770C>A	c.(769-771)aCc>aAc	p.T257N		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	115					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CCGCTTGCCACCTTGCTGCTG	0.726																																						ENST00000418460.1																			0											c.(769-771)aCc>aAc		microtubule-associated protein 10							8.0	9.0	9.0					1																	232941539		1912	4065	5977	SO:0001583	missense	54627							g.chr1:232941539C>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.770C>A	1.37:g.232941539C>A	ENSP00000403208:p.Thr257Asn						p.T257N	NM_019090.2	NP_061963.2					1	897	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.770C>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220248	0.58560	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	3.38	0.38709	.	0.107299	0.35207	U	0.003377	T	0.46171	0.1379	M	0.63428	1.95	0.23546	N	0.997443	D	0.55172	0.97	P	0.49708	0.62	T	0.38693	-0.9649	9	0.62326	D	0.03	0.0423	8.8777	0.35356	0.0:0.7729:0.0:0.2271	.	115	Q9P2G4	K1383_HUMAN	N	257	.	ENSP00000403208:T257N	T	+	2	0	KIAA1383	231008162	0.013000	0.17824	0.086000	0.20670	0.233000	0.25261	0.438000	0.21559	0.709000	0.31976	0.555000	0.69702	ACC		0.726	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		23	78	1	0	2.39556e-15	1	2.61601e-15	23	78				
HIST1H3J	8356	broad.mit.edu	37	6	27858327	27858327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858327C>T	ENST00000359303.2	-	1	243	c.244G>A	c.(244-246)Gac>Aac	p.D82N	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	82					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						AAACGAAGGTCGGTTTTGAAA	0.562																																						ENST00000359303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(244-246)Gac>Aac		histone cluster 1, H3j							58.0	59.0	58.0					6																	27858327		2203	4300	6503	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858327C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.244G>A	6.37:g.27858327C>T	ENSP00000352252:p.Asp82Asn						p.D82N	NM_003535.2	NP_003526.1	P68431	H31_HUMAN			1	243	-			82					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.244G>A	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802455	0.50315	.	.	ENSG00000197153	ENST00000359303	T	0.47869	0.83	3.96	3.96	0.45880	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.49389	D	0.999786	.	.	.	.	.	.	T	0.62473	-0.6847	6	0.87932	D	0	.	15.8159	0.78599	0.0:1.0:0.0:0.0	.	.	.	.	N	82	ENSP00000352252:D82N	ENSP00000352252:D82N	D	-	1	0	HIST1H3J	27966306	1.000000	0.71417	0.996000	0.52242	0.057000	0.15508	7.304000	0.78882	2.503000	0.84419	0.655000	0.94253	GAC		0.562	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		41	347	0	0	0	1	0	41	347				
SFTPD	6441	broad.mit.edu	37	10	81702155	81702155	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81702155G>T	ENST00000372292.3	-	4	462	c.422C>A	c.(421-423)gCt>gAt	p.A141D		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	141	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTTGGGCCCAGCTTCTCCTTT	0.607																																						ENST00000372292.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17						c.(421-423)gCt>gAt		surfactant protein D							87.0	79.0	82.0					10																	81702155		2203	4300	6503	SO:0001583	missense	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81702155G>T	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.422C>A	10.37:g.81702155G>T	ENSP00000361366:p.Ala141Asp						p.A141D	NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		4	462	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		141			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	c.422C>A	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	g	15.58	2.875673	0.51695	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	T;T	0.55234	0.53;0.53	5.02	5.02	0.67125	.	0.705366	0.12727	N	0.444178	T	0.41166	0.1147	L	0.28400	0.85	0.39602	D	0.969755	P	0.40476	0.718	B	0.39379	0.298	T	0.17592	-1.0364	10	0.12103	T	0.63	0.1107	13.8133	0.63276	0.0:0.0:1.0:0.0	.	141	P35247	SFTPD_HUMAN	D	141;154	ENSP00000361366:A141D;ENSP00000394325:A154D	ENSP00000361366:A141D	A	-	2	0	SFTPD	81692135	0.071000	0.21146	0.996000	0.52242	0.865000	0.49528	0.992000	0.29667	2.311000	0.77944	0.457000	0.33378	GCT		0.607	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			54	229	1	0	3.37043e-27	1	3.8985e-27	54	229				
AATK	9625	broad.mit.edu	37	17	79094040	79094040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094040C>T	ENST00000326724.4	-	11	3720	c.3696G>A	c.(3694-3696)gtG>gtA	p.V1232V	AATK_ENST00000417379.1_Silent_p.V1129V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1232					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGAAGAAGGACACGGCCTTCT	0.677																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3694-3696)gtG>gtA		apoptosis-associated tyrosine kinase							28.0	32.0	31.0					17																	79094040		2096	4212	6308	SO:0001819	synonymous_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094040C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3696G>A	17.37:g.79094040C>T						AATK_ENST00000417379.1_Silent_p.V1129V	p.V1232V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3720	-	all_neural(118;0.101)		1232					O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	37	c.3696G>A	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270195	0.23221	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.98	0.325	0.15903	.	.	.	.	.	T	0.51058	0.1652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	.	5.1513	0.15011	0.1341:0.5377:0.2393:0.0889	.	.	.	.	Y	1185	.	.	C	-	2	0	AATK	76708635	0.996000	0.38824	0.998000	0.56505	0.881000	0.50899	0.446000	0.21694	0.305000	0.22832	0.313000	0.20887	TGT		0.677	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		23	173	0	0	0	1	0	23	173				
ANKRD1	27063	broad.mit.edu	37	10	92675933	92675933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92675933C>T	ENST00000371697.3	-	6	894	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	216					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.D216Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AATACCTTATCTCGGGCGCTA	0.522																																						ENST00000371697.3																			1	Substitution - Missense(1)	p.D216Y(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(646-648)Gat>Aat		ankyrin repeat domain 1 (cardiac muscle)							82.0	79.0	80.0					10																	92675933		2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92675933C>T	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.646G>A	10.37:g.92675933C>T	ENSP00000360762:p.Asp216Asn						p.D216N	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			6	894	-		Colorectal(252;0.0475)	216					Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.646G>A	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970762	0.92919	.	.	ENSG00000148677	ENST00000371697	T	0.57107	0.42	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.53780	1.695	0.80722	D	1	P	0.50710	0.938	D	0.64237	0.923	T	0.64550	-0.6381	10	0.37606	T	0.19	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	216	Q15327	ANKR1_HUMAN	N	216	ENSP00000360762:D216N	ENSP00000360762:D216N	D	-	1	0	ANKRD1	92665913	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	GAT		0.522	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		40	179	0	0	0	1	0	40	179				
OR1E1	8387	broad.mit.edu	37	17	3300833	3300833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3300833C>A	ENST00000322608.2	-	1	871	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	291					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						GTTCCTCAGGCTGTAGATGAA	0.443																																						ENST00000322608.2																			0				endometrium(3)|large_intestine(2)|lung(5)	10						c.(871-873)aGc>aTc		olfactory receptor, family 1, subfamily E, member 1							89.0	84.0	86.0					17																	3300833		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3300833C>A	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.872G>T	17.37:g.3300833C>A	ENSP00000313384:p.Ser291Ile						p.S291I	NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN			1	871	-			291					O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.872G>T	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570788	0.86542	.	.	ENSG00000180016	ENST00000322608	T	0.36878	1.23	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.80183	2.485	0.48696	D	0.999691	D	0.62365	0.991	P	0.60682	0.878	T	0.66559	-0.5893	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	291	P30953	OR1E1_HUMAN	I	291	ENSP00000313384:S291I	ENSP00000313384:S291I	S	-	2	0	OR1E1	3247583	0.930000	0.31532	1.000000	0.80357	0.989000	0.77384	2.328000	0.43867	2.449000	0.82847	0.591000	0.81541	AGC		0.443	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		59	277	1	0	5.5144e-22	1	6.22847e-22	59	277				
ITGB7	3695	broad.mit.edu	37	12	53590575	53590575	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53590575G>A	ENST00000267082.5	-	6	835	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	ITGB7_ENST00000550743.2_Silent_p.L202L|ITGB7_ENST00000338737.4_Silent_p.L202L|ITGB7_ENST00000422257.3_Silent_p.L202L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	202	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAGGGCAGCACCGTTTTG	0.587																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(604-606)Ctg>Ttg		integrin, beta 7							71.0	65.0	67.0					12																	53590575		2203	4300	6503	SO:0001819	synonymous_variant	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53590575G>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.604C>T	12.37:g.53590575G>A						ITGB7_ENST00000550743.2_Silent_p.L202L|ITGB7_ENST00000338737.4_Silent_p.L202L|ITGB7_ENST00000422257.3_Silent_p.L202L	p.L202L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			6	835	-			202			VWFA.		Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	c.604C>T	CCDS8849.1																																																																																				0.587	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			30	134	0	0	0	1	0	30	134				
KCNK5	8645	broad.mit.edu	37	6	39159266	39159266	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39159266G>T	ENST00000359534.3	-	5	1238	c.900C>A	c.(898-900)acC>acA	p.T300T		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	300					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGTCGTTGTAGGTCTCTTCCT	0.617																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(898-900)acC>acA		potassium channel, subfamily K, member 5							132.0	135.0	134.0					6																	39159266		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159266G>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.900C>A	6.37:g.39159266G>T							p.T300T	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1238	-			300					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.900C>A	CCDS4841.1																																																																																				0.617	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		15	1039	1	0	6.31663e-08	1	6.57865e-08	15	1039				
TAF4	6874	broad.mit.edu	37	20	60575234	60575234	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60575234C>A	ENST00000252996.4	-	11	2732	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	911					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTACAAGATTCTGTAGCCTTT	0.408																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2731-2733)caG>caT		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							133.0	125.0	128.0					20																	60575234		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575234C>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2733G>T	20.37:g.60575234C>A	ENSP00000252996:p.Gln911His						p.Q911H	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		11	2732	-	Breast(26;1e-08)		911					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2733G>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220788	0.58560	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25912	1.77;1.77	4.7	1.66	0.24008	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.070768	0.64402	D	0.000019	T	0.32704	0.0838	L	0.38531	1.155	0.58432	D	0.999999	D	0.71674	0.998	D	0.70935	0.971	T	0.08046	-1.0741	10	0.72032	D	0.01	-11.4158	5.8129	0.18475	0.0:0.508:0.0:0.492	.	911	O00268	TAF4_HUMAN	H	911;775	ENSP00000252996:Q911H;ENSP00000399091:Q775H	ENSP00000252996:Q911H	Q	-	3	2	TAF4	60008629	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	0.964000	0.29306	0.969000	0.38237	-0.258000	0.10820	CAG		0.408	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		62	334	1	0	8.77104e-35	1	1.04431e-34	62	334				
CAMTA1	23261	broad.mit.edu	37	1	7737765	7737765	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7737765C>A	ENST00000303635.7	+	11	3093	c.2886C>A	c.(2884-2886)tcC>tcA	p.S962S	CAMTA1_ENST00000439411.2_Silent_p.S962S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	962					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCTCCCTTCCTCCCAGCACG	0.567			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2884-2886)tcC>tcA		calmodulin binding transcription activator 1							101.0	91.0	94.0					1																	7737765		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7737765C>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2886C>A	1.37:g.7737765C>A						CAMTA1_ENST00000439411.2_Silent_p.S962S	p.S962S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	11	3093	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	962					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2886C>A	CCDS30576.1																																																																																				0.567	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		33	260	1	0	1.62565e-12	1	1.74646e-12	33	260				
NPC1	4864	broad.mit.edu	37	18	21116663	21116663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21116663G>A	ENST00000269228.5	-	21	3773	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G	NPC1_ENST00000412552.2_Silent_p.G755G	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1073					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGTAGGCACTGCCGTTAATGC	0.527																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3217-3219)ggC>ggT		Niemann-Pick disease, type C1							95.0	82.0	86.0					18																	21116663		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21116663G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3219C>T	18.37:g.21116663G>A						NPC1_ENST00000412552.2_Silent_p.G755G	p.G1073G	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			21	3773	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		1073					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.3219C>T	CCDS11878.1																																																																																				0.527	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		5	170	0	0	0	1	0	5	170				
PLCG2	5336	broad.mit.edu	37	16	81969845	81969845	+	Missense_Mutation	SNP	G	G	A	rs369090249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81969845G>A	ENST00000359376.3	+	27	3128	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	972	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACAGAAGCCCGTCGACCTCCT	0.517																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2914-2916)Gtc>Atc		phospholipase C, gamma 2 (phosphatidylinositol-specific)		G	ILE/VAL	0,3902		0,0,1951	75.0	78.0	77.0		2914	-2.5	0.0	16		77	1,8307		0,1,4153	no	missense	PLCG2	NM_002661.3	29	0,1,6104	AA,AG,GG		0.012,0.0,0.0082	benign	972/1266	81969845	1,12209	1951	4154	6105	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81969845G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2914G>A	16.37:g.81969845G>A	ENSP00000352336:p.Val972Ile						p.V972I	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			27	3128	+			972			PI-PLC Y-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2914G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	5.370	0.253447	0.10185	0.0	1.2E-4	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	4.79	-2.47	0.06442	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.908362	0.09494	N	0.794498	T	0.39886	0.1095	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16129	-1.0413	10	0.37606	T	0.19	.	8.6391	0.33966	0.276:0.2342:0.4898:0.0	.	972	P16885	PLCG2_HUMAN	I	972	ENSP00000352336:V972I	ENSP00000352336:V972I	V	+	1	0	PLCG2	80527346	0.000000	0.05858	0.014000	0.15608	0.122000	0.20287	0.091000	0.15046	-0.838000	0.04218	-0.311000	0.09066	GTC		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			9	299	0	0	0	1	0	9	299				
SNAP29	9342	broad.mit.edu	37	22	21224637	21224637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224637C>T	ENST00000215730.7	+	2	378	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	84					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GCTCGCCCGTCAGCGAGGAGT	0.532																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(250-252)Cag>Tag		synaptosomal-associated protein, 29kDa							87.0	79.0	82.0					22																	21224637		2203	4300	6503	SO:0001587	stop_gained	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21224637C>T	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.250C>T	22.37:g.21224637C>T	ENSP00000215730:p.Gln84*						p.Q84*	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		2	378	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	84						Nonsense_Mutation	SNP	ENST00000215730.7	37	c.250C>T	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344017	0.95807	.	.	ENSG00000099940	ENST00000215730	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.9277	19.5775	0.95450	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000215730:Q84X	Q	+	1	0	SNAP29	19554637	1.000000	0.71417	0.993000	0.49108	0.662000	0.39071	7.747000	0.85070	2.625000	0.88918	0.591000	0.81541	CAG		0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		57	342	0	0	0	1	0	57	342				
SLC5A8	160728	broad.mit.edu	37	12	101576692	101576692	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101576692T>C	ENST00000536262.2	-	9	1612	c.1054A>G	c.(1054-1056)Aca>Gca	p.T352A		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGACACTGTGCTGTAAGGG	0.348																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e9-1		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							87.0	82.0	83.0					12																	101576692		2203	4300	6503	SO:0001630	splice_region_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101576692T>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1053-1A>G	12.37:g.101576692T>C							p.T352_splice	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			9	1612	-			352						Splice_Site	SNP	ENST00000536262.2	37	c.1052_splice	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774384	0.90108	.	.	ENSG00000256870	ENST00000536262	D	0.88741	-2.42	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96282	0.9207	10	0.87932	D	0	.	15.7376	0.77859	0.0:0.0:0.0:1.0	.	352	Q8N695	SC5A8_HUMAN	A	352	ENSP00000445340:T352A	ENSP00000445340:T352A	T	-	1	0	SLC5A8	100100823	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.972000	0.88022	2.134000	0.65973	0.528000	0.53228	ACA		0.348	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	Missense_Mutation	29	255	0	0	0	1	0	29	255				
NAA40	79829	broad.mit.edu	37	11	63720001	63720001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63720001G>A	ENST00000377793.4	+	5	475	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.R104Q	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	125	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TCTCACTTCCGGTTTGACGTG	0.577																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(373-375)cGg>cAg		N(alpha)-acetyltransferase 40, NatD catalytic subunit							181.0	153.0	163.0					11																	63720001		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63720001G>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.374G>A	11.37:g.63720001G>A	ENSP00000367024:p.Arg125Gln					NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Missense_Mutation_p.R104Q|NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q	p.R125Q	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			5	475	+			125			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.374G>A	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	37	6.029838	0.97216	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.23754	1.89;1.89;1.89	5.72	5.72	0.89469	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70934	-0.4737	10	0.62326	D	0.03	-15.2497	18.6393	0.91389	0.0:0.0:1.0:0.0	.	85;125	B4DU10;Q86UY6	.;NAA40_HUMAN	Q	125;85;104	ENSP00000367024:R125Q;ENSP00000407578:R85Q;ENSP00000442055:R104Q	ENSP00000367024:R125Q	R	+	2	0	NAA40	63476577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.514000	0.98013	2.692000	0.91855	0.555000	0.69702	CGG		0.577	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		56	274	0	0	0	1	0	56	274				
CPT1C	126129	broad.mit.edu	37	19	50216321	50216321	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50216321G>A	ENST00000392518.4	+	19	2598	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	CPT1C_ENST00000354199.5_Splice_Site_p.T653T|CPT1C_ENST00000405931.2_Splice_Site_p.T731T|CPT1C_ENST00000598293.1_Splice_Site_p.T742T|CPT1C_ENST00000323446.5_Splice_Site_p.T742T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	742					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCACAAAAACGGTGAGACAAA	0.527																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e19+1		carnitine palmitoyltransferase 1C							178.0	150.0	159.0					19																	50216321		2203	4300	6503	SO:0001630	splice_region_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50216321G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2226+1G>A	19.37:g.50216321G>A						CPT1C_ENST00000323446.5_Splice_Site_p.T742_splice|CPT1C_ENST00000598293.1_Splice_Site_p.T742_splice|CPT1C_ENST00000405931.2_Splice_Site_p.T731_splice|CPT1C_ENST00000354199.5_Splice_Site_p.T653_splice	p.T742_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	19	2598	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	742					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Splice_Site	SNP	ENST00000392518.4	37	c.2226_splice	CCDS12779.1																																																																																				0.527	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	Silent	169	677	0	0	0	1	0	169	677				
MYO6	4646	broad.mit.edu	37	6	76623953	76623953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76623953C>T	ENST00000369977.3	+	34	3752	c.3613C>T	c.(3613-3615)Caa>Taa	p.Q1205*	MYO6_ENST00000369981.3_Nonsense_Mutation_p.Q1206*|MYO6_ENST00000369985.4_Nonsense_Mutation_p.Q1182*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1214					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GATTGCCCGGCAAATGGAACT	0.463																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3616-3618)Caa>Taa		myosin VI							134.0	133.0	133.0					6																	76623953		2203	4300	6503	SO:0001587	stop_gained	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76623953C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3613C>T	6.37:g.76623953C>T	ENSP00000358994:p.Gln1205*					MYO6_ENST00000369985.4_Nonsense_Mutation_p.Q1182*|MYO6_ENST00000369977.3_Nonsense_Mutation_p.Q1205*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*	p.Q1206*			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	34	3895	+		all_hematologic(105;0.189)	1214					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Nonsense_Mutation	SNP	ENST00000369977.3	37	c.3616C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	43	10.432314	0.99404	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8031	0.96516	0.0:1.0:0.0:0.0	.	.	.	.	X	1215;1206;1182;1205;1173	.	ENSP00000358992:Q1173X	Q	+	1	0	MYO6	76680673	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.462000	0.80851	2.672000	0.90937	0.655000	0.94253	CAA		0.463	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		136	682	0	0	0	1	0	136	682				
CNNM2	54805	broad.mit.edu	37	10	104679703	104679703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679703C>T	ENST00000369878.4	+	1	1654	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F|CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	489	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGAGCGCTCCAATATCGTG	0.517																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1465-1467)tCc>tTc		cyclin M2							108.0	103.0	105.0					10																	104679703		2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679703C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1466C>T	10.37:g.104679703C>T	ENSP00000358894:p.Ser489Phe					CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F|CNNM2_ENST00000457502.2_Missense_Mutation_p.S247F|CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F	p.S489F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1590	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	489			CBS 1.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1466C>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917192	0.52546	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	5.09	0.68999	Cystathionine beta-synthase, core (1);	0.104424	0.64402	D	0.000002	D	0.90256	0.6953	M	0.90759	3.145	0.80722	D	1	P;P;D	0.64830	0.933;0.932;0.994	P;P;D	0.70227	0.77;0.593;0.968	D	0.92372	0.5906	10	0.87932	D	0	.	18.475	0.90790	0.0:1.0:0.0:0.0	.	489;489;489	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	F	489	ENSP00000392875:S489F;ENSP00000358891:S489F;ENSP00000358894:S489F	ENSP00000286899:S489F	S	+	2	0	CNNM2	104669693	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.696000	0.61774	2.343000	0.79666	0.561000	0.74099	TCC		0.517	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		71	367	0	0	0	1	0	71	367				
EBF3	253738	broad.mit.edu	37	10	131761748	131761748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131761748C>T	ENST00000355311.5	-	2	246	c.174G>A	c.(172-174)ccG>ccA	p.P58P	EBF3_ENST00000368648.3_Silent_p.P58P			Q9H4W6	COE3_HUMAN	early B-cell factor 3	58					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGTTGGAAGGCGGCTGCTTCT	0.672																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(172-174)ccG>ccA		early B-cell factor 3							40.0	45.0	43.0					10																	131761748		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761748C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.174G>A	10.37:g.131761748C>T						EBF3_ENST00000355311.5_Silent_p.P58P	p.P58P	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	246	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	58					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.174G>A																																																																																					0.672	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		9	313	0	0	0	1	0	9	313				
STK38L	23012	broad.mit.edu	37	12	27475324	27475324	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27475324A>C	ENST00000389032.3	+	14	1500	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TATACCTATAAAAGGTTTGAA	0.378																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(1330-1332)aAa>aCa		serine/threonine kinase 38 like							105.0	114.0	111.0					12																	27475324		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27475324A>C	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1331A>C	12.37:g.27475324A>C	ENSP00000373684:p.Lys444Thr					STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	p.K444T	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			14	1500	+	Colorectal(261;0.0847)		444			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000389032.3	37	c.1331A>C	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441338	0.43326	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.53857	0.6;0.6	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.105878	0.64402	D	0.000008	T	0.77705	0.4170	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.984;0.99	D	0.83676	0.0169	10	0.87932	D	0	.	14.8942	0.70630	1.0:0.0:0.0:0.0	.	351;444	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	T	444;351	ENSP00000373684:K444T;ENSP00000446386:K351T	ENSP00000373684:K444T	K	+	2	0	STK38L	27366591	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	9.319000	0.96338	1.978000	0.57642	0.377000	0.23210	AAA		0.378	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		127	572	0	0	0	1	0	127	572				
NACC2	138151	broad.mit.edu	37	9	138905137	138905137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138905137G>A	ENST00000371753.1	-	4	1221	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	NACC2_ENST00000277554.2_Missense_Mutation_p.T388M|NACC2_ENST00000467669.1_5'Flank			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	388	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						GTTGGCCAGCGTGTTCCTGGT	0.667																																						ENST00000371753.1																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(1162-1164)aCg>aTg		NACC family member 2, BEN and BTB (POZ) domain containing							43.0	47.0	46.0					9																	138905137		2202	4296	6498	SO:0001583	missense	138151				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body		g.chr9:138905137G>A	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"""BEN domain containing"", ""BTB/POZ domain containing"""	23846	protein-coding gene	gene with protein product	"""BEN domain containing 9"""	615786	"""BTB (POZ) domain containing 14A"""	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1163C>T	9.37:g.138905137G>A	ENSP00000360818:p.Thr388Met					NACC2_ENST00000277554.2_Missense_Mutation_p.T388M	p.T388M			Q96BF6	NACC2_HUMAN			4	1221	-			388			BEN.			Missense_Mutation	SNP	ENST00000371753.1	37	c.1163C>T	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600576	0.87055	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	N	0.24115	0.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.61525	-0.7045	10	0.66056	D	0.02	.	18.7284	0.91724	0.0:0.0:1.0:0.0	.	388	Q96BF6	NACC2_HUMAN	M	388	ENSP00000360818:T388M;ENSP00000277554:T388M	ENSP00000277554:T388M	T	-	2	0	NACC2	138044958	1.000000	0.71417	0.983000	0.44433	0.540000	0.34992	9.618000	0.98365	2.670000	0.90874	0.655000	0.94253	ACG		0.667	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653		74	335	0	0	0	1	0	74	335				
OR2T12	127064	broad.mit.edu	37	1	248458261	248458261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248458261A>G	ENST00000317996.1	-	1	619	c.620T>C	c.(619-621)gTc>gCc	p.V207A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGAAAAGGGGACCAGGAGCAT	0.547																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(619-621)gTc>gCc		olfactory receptor, family 2, subfamily T, member 12							46.0	40.0	42.0					1																	248458261		2202	4282	6484	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458261A>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.620T>C	1.37:g.248458261A>G	ENSP00000324583:p.Val207Ala						p.V207A	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	619	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		207						Missense_Mutation	SNP	ENST00000317996.1	37	c.620T>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	9.021	0.984884	0.18889	.	.	ENSG00000177201	ENST00000317996	T	0.39229	1.09	1.55	0.167	0.15006	GPCR, rhodopsin-like superfamily (1);	1.119980	0.07080	U	0.836949	T	0.28267	0.0698	N	0.17723	0.515	0.09310	N	1	B	0.23806	0.091	B	0.30716	0.119	T	0.40156	-0.9578	10	0.62326	D	0.03	.	4.0928	0.09976	0.5564:0.283:0.1606:0.0	.	207	Q8NG77	O2T12_HUMAN	A	207	ENSP00000324583:V207A	ENSP00000324583:V207A	V	-	2	0	OR2T12	246524884	0.000000	0.05858	0.021000	0.16686	0.193000	0.23685	-0.036000	0.12185	0.540000	0.28808	0.147000	0.16070	GTC		0.547	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		134	373	0	0	0	1	0	134	373				
CELF6	60677	broad.mit.edu	37	15	72608191	72608191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72608191G>A	ENST00000569547.1	-	2	411	c.340C>T	c.(340-342)Cca>Tca	p.P114S	CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|CELF6_ENST00000287202.5_Missense_Mutation_p.P114S|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	114	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTACCCCTGGCAGGGTCTTC	0.637																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(340-342)Cca>Tca		CUGBP, Elav-like family member 6							38.0	35.0	36.0					15																	72608191		2199	4297	6496	SO:0001583	missense	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72608191G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.340C>T	15.37:g.72608191G>A	ENSP00000454749:p.Pro114Ser					CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	p.P114S	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN			2	594	-			114			RRM 1.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	c.340C>T	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744052	0.89663	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.15718	2.4	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.43919	U	0.000506	T	0.37461	0.1004	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.968	T	0.01702	-1.1292	10	0.66056	D	0.02	-4.7191	18.957	0.92662	0.0:0.0:1.0:0.0	.	114;114	B4DJB6;Q96J87	.;CELF6_HUMAN	S	114	ENSP00000287202:P114S	ENSP00000287202:P114S	P	-	1	0	CELF6	70395245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.367000	0.97148	2.824000	0.97209	0.655000	0.94253	CCA		0.637	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		15	48	0	0	0	1	0	15	48				
RELN	5649	broad.mit.edu	37	7	103175782	103175782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103175782G>A	ENST00000428762.1	-	46	7489	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	RELN_ENST00000343529.5_Missense_Mutation_p.P2444S|RELN_ENST00000424685.2_Missense_Mutation_p.P2444S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2444					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGGGAGAGGCAGAGTGATT	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7330-7332)Cct>Tct		reelin							159.0	121.0	134.0					7																	103175782		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103175782G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7330C>T	7.37:g.103175782G>A	ENSP00000392423:p.Pro2444Ser					RELN_ENST00000343529.5_Missense_Mutation_p.P2444S|RELN_ENST00000424685.2_Missense_Mutation_p.P2444S	p.P2444S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	46	7489	-			2444					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7330C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843027	0.91197	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.56776	0.44;0.44;0.44	5.57	5.57	0.84162	Neuraminidase (1);	0.105231	0.64402	D	0.000002	T	0.72875	0.3515	M	0.73962	2.25	0.80722	D	1	D;P	0.67145	0.996;0.519	D;B	0.64410	0.925;0.09	T	0.74788	-0.3546	10	0.72032	D	0.01	.	19.9029	0.96995	0.0:0.0:1.0:0.0	.	2444;2444	P78509-2;P78509	.;RELN_HUMAN	S	2444	ENSP00000392423:P2444S;ENSP00000345694:P2444S;ENSP00000388446:P2444S	ENSP00000345694:P2444S	P	-	1	0	RELN	102963018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.780000	0.95670	0.655000	0.94253	CCT		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		30	159	0	0	0	1	0	30	159				
NOS1	4842	broad.mit.edu	37	12	117693744	117693744	+	Missense_Mutation	SNP	T	T	C	rs200604635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117693744T>C	ENST00000338101.4	-	16	2634	c.2630A>G	c.(2629-2631)cAc>cGc	p.H877R	NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ACTCTACCTGTGCTGGCTGTC	0.582																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000338101.4																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2629-2631)cAc>cGc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						113.0	102.0	105.0					12																	117693744		876	1991	2867	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117693744T>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2630A>G	12.37:g.117693744T>C	ENSP00000337459:p.His877Arg					NOS1_ENST00000344089.3_Intron|NOS1_ENST00000317775.6_Intron	p.H877R			P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	16	2634	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		844			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2630A>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013078	0.35511	.	.	ENSG00000089250	ENST00000338101;ENST00000544320	T	0.58210	0.35	5.93	-0.753	0.11068	.	.	.	.	.	T	0.35219	0.0924	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	T	0.06445	-1.0826	7	0.15066	T	0.55	.	9.1619	0.37028	0.0:0.429:0.0:0.571	.	.	.	.	R	877;43	ENSP00000337459:H877R	ENSP00000337459:H877R	H	-	2	0	NOS1	116178127	0.966000	0.33281	0.995000	0.50966	0.993000	0.82548	-0.321000	0.08018	-0.116000	0.11893	-0.290000	0.09829	CAC		0.582	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			57	318	0	0	0	1	0	57	318				
IKZF2	22807	broad.mit.edu	37	2	213921823	213921823	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213921823G>A	ENST00000434687.1	-	5	449	c.140C>T	c.(139-141)aCa>aTa	p.T47I	IKZF2_ENST00000421754.2_Splice_Site_p.T47I|IKZF2_ENST00000457361.1_Splice_Site_p.T47I|IKZF2_ENST00000413091.3_Splice_Site_p.T47I|IKZF2_ENST00000374319.4_Splice_Site_p.T47I|IKZF2_ENST00000451136.2_Splice_Site_p.T47I|IKZF2_ENST00000342002.2_Splice_Site_p.T53I|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	47					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TACTGAATTTGCTGTAATTTG	0.373																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e4-1		IKAROS family zinc finger 2 (Helios)							58.0	60.0	59.0					2																	213921823		2203	4300	6503	SO:0001630	splice_region_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921823G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.140-1C>T	2.37:g.213921823G>A						IKZF2_ENST00000451136.2_Splice_Site_p.T47_splice|IKZF2_ENST00000434687.1_Splice_Site_p.T47_splice|IKZF2_ENST00000413091.3_Splice_Site_p.T47_splice|IKZF2_ENST00000374319.4_Splice_Site_p.T47_splice|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Splice_Site_p.T53_splice|IKZF2_ENST00000421754.2_Splice_Site_p.T47_splice	p.T47_splice	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	308	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	47					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Splice_Site	SNP	ENST00000434687.1	37	c.139_splice	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293289	0.40594	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091;ENST00000433134;ENST00000452786	T;T;T;T;T;T;T;T	0.47528	3.19;3.15;3.19;3.2;3.12;3.25;3.18;0.84	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.55097	0.1899	L	0.51422	1.61	0.54753	D	0.999983	P;P;B;P	0.46512	0.835;0.879;0.409;0.846	P;P;B;B	0.47645	0.553;0.494;0.211;0.398	T	0.55425	-0.8143	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	47;47;47;47	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	I	47;53;47;47;47;47;47;53;47	ENSP00000410447:T47I;ENSP00000342876:T53I;ENSP00000412869:T47I;ENSP00000363439:T47I;ENSP00000395203:T47I;ENSP00000399574:T47I;ENSP00000402334:T47I;ENSP00000406783:T53I	ENSP00000342876:T53I	T	-	2	0	IKZF2	213630068	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.268000	0.89876	2.857000	0.98124	0.650000	0.86243	ACA		0.373	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	Missense_Mutation	6	230	0	0	0	1	0	6	230				
TNR	7143	broad.mit.edu	37	1	175299240	175299240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175299240G>T	ENST00000367674.2	-	21	4471	c.3763C>A	c.(3763-3765)Ctc>Atc	p.L1255I	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.L1255I			Q92752	TENR_HUMAN	tenascin R	1255	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTATGCGGAGTTTGTACAGG	0.602																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3763-3765)Ctc>Atc		tenascin R							94.0	77.0	83.0					1																	175299240		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175299240G>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3763C>A	1.37:g.175299240G>T	ENSP00000356646:p.Leu1255Ile					RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.L1255I	p.L1255I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			21	4471	-	Renal(580;0.146)		1255			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3763C>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428684	0.43122	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	D;D	0.82619	-1.63;-1.63	5.64	4.72	0.59763	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.070418	0.64402	N	0.000017	D	0.85805	0.5782	M	0.82517	2.595	0.54753	D	0.999987	B	0.11235	0.004	B	0.28232	0.087	D	0.83952	0.0317	10	0.62326	D	0.03	.	15.8324	0.78764	0.0:0.0:0.8634:0.1366	.	1255	Q92752	TENR_HUMAN	I	1255;1255;1165	ENSP00000356646:L1255I;ENSP00000263525:L1255I	ENSP00000263525:L1255I	L	-	1	0	TNR	173565863	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	5.105000	0.64591	1.354000	0.45846	0.655000	0.94253	CTC		0.602	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		102	272	1	0	9.27813e-46	1	1.13844e-45	102	272				
DOCK5	80005	broad.mit.edu	37	8	25183050	25183050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25183050G>A	ENST00000276440.7	+	18	1934	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	630					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCCACAAAGCTCACCCAGA	0.478																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1888-1890)aaG>aaA		dedicator of cytokinesis 5							108.0	95.0	99.0					8																	25183050		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25183050G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1890G>A	8.37:g.25183050G>A							p.K630K	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	18	1934	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	630			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.1890G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043369	0.19748	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.8	2.62	0.31277	.	.	.	.	.	T	0.61899	0.2384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59123	-0.7513	4	.	.	.	.	11.7724	0.51967	0.2787:0.0:0.7213:0.0	.	.	.	.	T	402	.	.	A	+	1	0	DOCK5	25238967	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.541000	0.23207	0.803000	0.34113	0.655000	0.94253	GCT		0.478	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		57	271	0	0	0	1	0	57	271				
OR52D1	390066	broad.mit.edu	37	11	5510879	5510879	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5510879A>G	ENST00000322641.5	+	1	965	c.943A>G	c.(943-945)Aag>Gag	p.K315E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	315					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTGGGGAAGACTTCAAT	0.413																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(943-945)Aag>Gag		olfactory receptor, family 52, subfamily D, member 1							59.0	58.0	58.0					11																	5510879		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510879A>G	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.943A>G	11.37:g.5510879A>G	ENSP00000326232:p.Lys315Glu					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.K315E	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	965	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	315					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.943A>G	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887179	0.33348	.	.	ENSG00000181609	ENST00000322641	T	0.40225	1.04	4.91	2.5	0.30297	.	0.193296	0.36234	N	0.002711	T	0.26521	0.0648	L	0.36672	1.1	0.09310	N	1	B	0.32573	0.376	B	0.27380	0.079	T	0.18871	-1.0323	10	0.62326	D	0.03	.	4.5443	0.12073	0.7392:0.0:0.0921:0.1687	.	315	Q9H346	O52D1_HUMAN	E	315	ENSP00000326232:K315E	ENSP00000326232:K315E	K	+	1	0	OR52D1	5467455	0.009000	0.17119	0.001000	0.08648	0.073000	0.16967	1.179000	0.31993	0.414000	0.25790	0.533000	0.62120	AAG		0.413	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		86	274	0	0	0	1	0	86	274				
JAKMIP1	152789	broad.mit.edu	37	4	6080706	6080706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6080706C>T	ENST00000282924.5	-	8	1747	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R421H|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	421	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTGGAGCGCAACAGCCG	0.567																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1261-1263)cGc>cAc		janus kinase and microtubule interacting protein 1							109.0	87.0	94.0					4																	6080706		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6080706C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1262G>A	4.37:g.6080706C>T	ENSP00000282924:p.Arg421His					JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R421H|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H	p.R421H	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			8	1711	-			421			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1262G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087251	0.55968	.	.	ENSG00000152969	ENST00000409021;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T	0.35048	1.74;1.75;1.75;1.33	5.24	5.24	0.73138	.	0.080268	0.53938	N	0.000057	T	0.49253	0.1546	M	0.73962	2.25	0.43462	D	0.995669	D;B;D;B	0.71674	0.998;0.01;0.994;0.01	P;B;P;B	0.48488	0.579;0.003;0.579;0.003	T	0.55444	-0.8140	10	0.52906	T	0.07	.	17.8446	0.88725	0.0:1.0:0.0:0.0	.	256;421;421;421	B4DHZ8;F2Z2K5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	H	421;421;313;421;421;256	ENSP00000386711:R421H;ENSP00000282924:R421H;ENSP00000386925:R421H;ENSP00000386745:R256H	ENSP00000282924:R421H	R	-	2	0	JAKMIP1	6131607	0.972000	0.33761	0.993000	0.49108	0.960000	0.62799	2.320000	0.43797	2.445000	0.82738	0.655000	0.94253	CGC		0.567	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		49	200	0	0	0	1	0	49	200				
DENND5A	23258	broad.mit.edu	37	11	9166622	9166622	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9166622G>T	ENST00000328194.3	-	18	3362	c.3042C>A	c.(3040-3042)ggC>ggA	p.G1014G	DENND5A_ENST00000527700.1_Silent_p.G357G|DENND5A_ENST00000530044.1_Silent_p.G1014G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1014	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGTTATCATGGCCAATCTGGA	0.448																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3040-3042)ggC>ggA		DENN/MADD domain containing 5A							155.0	131.0	139.0					11																	9166622		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9166622G>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3042C>A	11.37:g.9166622G>T						DENND5A_ENST00000530044.1_Silent_p.G1014G|DENND5A_ENST00000527700.1_Silent_p.G357G	p.G1014G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			18	3362	-			1014			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.3042C>A	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.933|9.933	1.215366|1.215366	0.22373|0.22373	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000525784|ENST00000524446	.|.	.|.	.|.	5.65|5.65	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	T|T	0.58452|0.58452	0.2123|0.2123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54873|0.54873	-0.8228|-0.8228	4|4	.|.	.|.	.|.	-13.9587|-13.9587	8.5325|8.5325	0.33344|0.33344	0.0:0.1334:0.6002:0.2664|0.0:0.1334:0.6002:0.2664	.|.	.|.	.|.	.|.	D|T	62|185	.|.	.|.	A|P	-|-	2|1	0|0	DENND5A|DENND5A	9123198|9123198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.546000|1.546000	0.36179|0.36179	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		85	466	1	0	1.42748e-55	1	1.78476e-55	85	466				
CCND2	894	broad.mit.edu	37	12	4385275	4385275	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385275C>T	ENST00000261254.3	+	2	569	c.300C>T	c.(298-300)ctC>ctT	p.L100L	RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	100	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			ATCTGCAACTCCTGGGTGCTG	0.562			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"""NHL,CLL"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(298-300)ctC>ctT		cyclin D2							79.0	73.0	75.0					12																	4385275		2203	4300	6503	SO:0001819	synonymous_variant	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4385275C>T	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.300C>T	12.37:g.4385275C>T						RP11-264F23.3_ENST00000539135.1_RNA	p.L100L	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		2	569	+			100			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	c.300C>T	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691942	0.48097	.	.	ENSG00000118971	ENST00000536537	.	.	.	5.15	-4.5	0.03493	.	.	.	.	.	T	0.47078	0.1426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47302	-0.9128	4	.	.	.	.	5.4715	0.16672	0.0872:0.2265:0.4763:0.2101	.	.	.	.	S	16	.	.	P	+	1	0	CCND2	4255536	0.923000	0.31300	0.990000	0.47175	0.991000	0.79684	-0.030000	0.12308	-0.393000	0.07739	0.555000	0.69702	CCT		0.562	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		64	282	0	0	0	1	0	64	282				
SPTLC3	55304	broad.mit.edu	37	20	13140662	13140662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140662G>A	ENST00000399002.2	+	11	1702	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	476					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CTTTTGCAAGGCATATGCTAG	0.423																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1426-1428)agG>agA		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						80.0	81.0	81.0					20																	13140662		1798	4080	5878	SO:0001819	synonymous_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13140662G>A	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1428G>A	20.37:g.13140662G>A						SPTLC3_ENST00000378194.4_3'UTR	p.R476R	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			11	1702	+			476					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	c.1428G>A	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663322	0.14710	.	.	ENSG00000172296	ENST00000431275	.	.	.	5.84	-2.71	0.05986	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57985	-0.7716	4	.	.	.	-19.6967	12.6826	0.56930	0.7065:0.0:0.2935:0.0	.	.	.	.	D	74	.	.	G	+	2	0	SPTLC3	13088662	0.246000	0.23909	0.499000	0.27577	0.783000	0.44284	-0.119000	0.10676	-0.325000	0.08577	-0.768000	0.03414	GGC		0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		84	429	0	0	0	1	0	84	429				
SKIV2L2	23517	broad.mit.edu	37	5	54674996	54674996	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54674996G>T	ENST00000230640.5	+	18	2279	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	SKIV2L2_ENST00000545714.1_Silent_p.V574V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	675					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAGTAGTGGTGAATTTCTCAA	0.294																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2023-2025)gtG>gtT		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							50.0	56.0	54.0					5																	54674996		2203	4298	6501	SO:0001819	synonymous_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54674996G>T	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2025G>T	5.37:g.54674996G>T						SKIV2L2_ENST00000545714.1_Silent_p.V574V	p.V675V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			18	2279	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	675					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	c.2025G>T	CCDS3967.1																																																																																				0.294	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			42	169	1	0	2.37825e-27	1	2.75276e-27	42	169				
ZBED9	114821	broad.mit.edu	37	6	28542469	28542469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542469C>T	ENST00000452236.2	-	3	2630	c.2013G>A	c.(2011-2013)atG>atA	p.M671I	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGGCTTTAGCATTTTGGAAG	0.418																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2011-2013)atG>atA		SCAN domain containing 3							168.0	170.0	169.0					6																	28542469		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542469C>T																												ENST00000452236.2:c.2013G>A	6.37:g.28542469C>T	ENSP00000395259:p.Met671Ile						p.M671I	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	2630	-			671						Missense_Mutation	SNP	ENST00000452236.2	37	c.2013G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925525	0.34002	.	.	ENSG00000232040	ENST00000452236	T	0.02395	4.31	3.51	2.63	0.31362	.	.	.	.	.	T	0.01287	0.0042	L	0.54323	1.7	0.24768	N	0.992881	B	0.02656	0.0	B	0.04013	0.001	T	0.43327	-0.9398	9	0.72032	D	0.01	.	6.8742	0.24137	0.0:0.8686:0.0:0.1314	.	671	Q6R2W3	SCND3_HUMAN	I	671	ENSP00000395259:M671I	ENSP00000395259:M671I	M	-	3	0	SCAND3	28650448	0.996000	0.38824	0.876000	0.34364	0.989000	0.77384	1.206000	0.32321	0.817000	0.34445	0.563000	0.77884	ATG		0.418	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			157	800	0	0	0	1	0	157	800				
STIL	6491	broad.mit.edu	37	1	47759187	47759187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47759187C>A	ENST00000360380.3	-	9	1178	c.815G>T	c.(814-816)aGt>aTt	p.S272I	STIL_ENST00000337817.5_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I|STIL_ENST00000371877.3_Missense_Mutation_p.S272I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	272					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TACCTGAGGACTATAGATATG	0.318																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(814-816)aGt>aTt		SCL/TAL1 interrupting locus							118.0	125.0	123.0					1																	47759187		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47759187C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.815G>T	1.37:g.47759187C>A	ENSP00000353544:p.Ser272Ile					STIL_ENST00000337817.5_Missense_Mutation_p.S272I|STIL_ENST00000371877.3_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I	p.S272I			Q15468	STIL_HUMAN			9	1178	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	272					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.815G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677186	0.88445	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.75	5.75	0.90469	.	0.117689	0.85682	D	0.000000	T	0.71264	0.3319	M	0.76574	2.34	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.73177	-0.4065	10	0.87932	D	0	-17.9631	19.9662	0.97271	0.0:1.0:0.0:0.0	.	272;225;272;272;272	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	I	272;272;272;272;272;225	ENSP00000353544:S272I;ENSP00000337367:S272I;ENSP00000360944:S272I;ENSP00000379523:S272I;ENSP00000243182:S272I;ENSP00000411664:S225I	ENSP00000243182:S272I	S	-	2	0	STIL	47531774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.876000	0.39588	2.701000	0.92244	0.650000	0.86243	AGT		0.318	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		93	304	1	0	7.47877e-49	1	9.23912e-49	93	304				
COL5A1	1289	broad.mit.edu	37	9	137727028	137727028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137727028G>A	ENST00000371817.3	+	65	5762	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1783	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTACATCCGCGCCCTGGTG	0.667																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5347-5349)cGc>cAc		collagen, type V, alpha 1							75.0	64.0	67.0					9																	137727028		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137727028G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5348G>A	9.37:g.137727028G>A	ENSP00000360882:p.Arg1783His						p.R1783H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	65	5762	+		Myeloproliferative disorder(178;0.0341)	1783			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5348G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656189	0.47467	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.73897	-0.79	5.03	1.15	0.20763	Fibrillar collagen, C-terminal (4);	0.096797	0.41605	U	0.000857	T	0.64538	0.2607	L	0.48877	1.53	0.22446	N	0.999096	B	0.14012	0.009	B	0.12837	0.008	T	0.56025	-0.8047	10	0.52906	T	0.07	.	9.8595	0.41105	0.281:0.0:0.719:0.0	.	1783	P20908	CO5A1_HUMAN	H	1783;320	ENSP00000360882:R1783H	ENSP00000347458:R320H	R	+	2	0	COL5A1	136866849	0.998000	0.40836	0.884000	0.34674	0.982000	0.71751	2.669000	0.46825	-0.051000	0.13334	-0.254000	0.11334	CGC		0.667	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		28	185	0	0	0	1	0	28	185				
NCOA1	8648	broad.mit.edu	37	2	24905930	24905930	+	Silent	SNP	C	C	T	rs143048201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24905930C>T	ENST00000406961.1	+	8	1117	c.465C>T	c.(463-465)agC>agT	p.S155S	NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S|NCOA1_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000405141.1_Silent_p.S155S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	155	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATACGAGCGTCTACAGCA	0.368			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(463-465)agC>agT		nuclear receptor coactivator 1		C	,,	3,4403	6.2+/-15.9	0,3,2200	86.0	83.0	84.0		465,465,465	-2.9	1.0	2	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	155/1442,155/1400,155/1441	24905930	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24905930C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.465C>T	2.37:g.24905930C>T						NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000406961.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S	p.S155S			Q15788	NCOA1_HUMAN			9	1176	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		155			PAS.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.465C>T	CCDS1712.1																																																																																				0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		55	329	0	0	0	1	0	55	329				
CLK1	1195	broad.mit.edu	37	2	201722536	201722536	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722536A>C	ENST00000321356.4	-	7	872	c.737T>G	c.(736-738)cTt>cGt	p.L246R	CLK1_ENST00000434813.2_Missense_Mutation_p.L288R|CLK1_ENST00000409769.2_Missense_Mutation_p.L69R	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTAAGTACTAAGTCCCAATAG	0.363																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(862-864)cTt>cGt		CDC-like kinase 1							104.0	98.0	100.0					2																	201722536		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722536A>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.737T>G	2.37:g.201722536A>C	ENSP00000326830:p.Leu246Arg					CLK1_ENST00000321356.4_Missense_Mutation_p.L246R|CLK1_ENST00000409769.2_Missense_Mutation_p.L69R	p.L288R	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			7	1197	-			246			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.863T>G	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.411233	0.62399	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.20200	2.09;2.09;2.09	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	N	0.16098	0.37	0.80722	D	1	P;P;P;D	0.89917	0.524;0.929;0.524;1.0	B;B;P;D	0.97110	0.406;0.406;0.51;1.0	T	0.11616	-1.0580	10	0.33141	T	0.24	.	15.0306	0.71705	1.0:0.0:0.0:0.0	.	288;216;246;69	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	R	246;216;69;288	ENSP00000326830:L246R;ENSP00000386358:L69R;ENSP00000394734:L288R	ENSP00000326830:L246R	L	-	2	0	CLK1	201430781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.091000	0.63221	0.460000	0.39030	CTT		0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			51	292	0	0	0	1	0	51	292				
HERC2	8924	broad.mit.edu	37	15	28413705	28413705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28413705C>T	ENST00000261609.7	-	67	10369	c.10261G>A	c.(10261-10263)Gcc>Acc	p.A3421T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGATCATGGCGGCCGGCATC	0.632																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10261-10263)Gcc>Acc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							32.0	34.0	33.0					15																	28413705		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28413705C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10261G>A	15.37:g.28413705C>T	ENSP00000261609:p.Ala3421Thr						p.A3421T	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	67	10369	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3421						Missense_Mutation	SNP	ENST00000261609.7	37	c.10261G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640486	0.29157	.	.	ENSG00000128731	ENST00000261609	T	0.37584	1.19	5.46	0.624	0.17659	.	0.137592	0.64402	D	0.000006	T	0.13927	0.0337	N	0.03608	-0.345	0.24273	N	0.995238	B	0.24426	0.103	B	0.19666	0.026	T	0.18461	-1.0336	10	0.38643	T	0.18	.	7.3517	0.26695	0.0:0.3306:0.0:0.6694	.	3421	O95714	HERC2_HUMAN	T	3421	ENSP00000261609:A3421T	ENSP00000261609:A3421T	A	-	1	0	HERC2	26087300	0.977000	0.34250	0.327000	0.25402	0.051000	0.14879	2.057000	0.41365	0.293000	0.22520	0.491000	0.48974	GCC		0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		77	313	0	0	0	1	0	77	313				
KCNH7	90134	broad.mit.edu	37	2	163374395	163374395	+	Missense_Mutation	SNP	C	C	T	rs373376905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163374395C>T	ENST00000332142.5	-	4	836	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	246					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R246Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGGGTAGAGTCGGTCCCATTG	0.478																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.R246Q(1)	biliary_tract(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(736-738)cGa>cAa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	139.0	130.0	133.0		737,737	5.9	1.0	2		133	0,8600		0,0,4300	no	missense,missense	KCNH7	NM_033272.3,NM_173162.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	246/1197,246/733	163374395	1,13005	2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374395C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.737G>A	2.37:g.163374395C>T	ENSP00000331727:p.Arg246Gln					KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q	p.R246Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			4	836	-			246					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.737G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096976	0.56075	2.27E-4	0.0	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98617	-5.03;-5.03	5.9	5.9	0.94986	.	0.063150	0.64402	D	0.000004	D	0.95452	0.8523	N	0.19112	0.55	0.39103	D	0.961326	B;B	0.18461	0.01;0.028	B;B	0.12837	0.003;0.008	D	0.92969	0.6396	10	0.23891	T	0.37	.	13.4585	0.61212	0.0:0.9285:0.0:0.0715	.	246;246	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	246	ENSP00000331727:R246Q;ENSP00000333781:R246Q	ENSP00000333781:R246Q	R	-	2	0	KCNH7	163082641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.267000	0.43329	2.791000	0.96007	0.655000	0.94253	CGA		0.478	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		129	375	0	0	0	1	0	129	375				
ZNF90	7643	broad.mit.edu	37	19	20229361	20229361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20229361G>T	ENST00000418063.2	+	4	1110	c.998G>T	c.(997-999)aGa>aTa	p.R333I	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	333					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)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACACATAAGAGAATCCATACT	0.408																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(997-999)aGa>aTa		zinc finger protein 90							24.0	23.0	23.0					19																	20229361		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229361G>T	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.998G>T	19.37:g.20229361G>T	ENSP00000410466:p.Arg333Ile					ZNF90_ENST00000474284.1_Intron	p.R333I	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	1110	+			333					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.998G>T	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	3.662	-0.069227	0.07228	.	.	ENSG00000213988	ENST00000418063	T	0.24908	1.83	1.18	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20700	0.0498	M	0.67625	2.065	0.39890	D	0.973755	B	0.24920	0.114	B	0.19666	0.026	T	0.05886	-1.0858	8	.	.	.	.	5.3534	0.16047	0.4754:0.0:0.5246:0.0	.	333	Q03938	ZNF90_HUMAN	I	333	ENSP00000410466:R333I	.	R	+	2	0	ZNF90	20090361	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.546000	0.02188	-0.850000	0.04152	-0.856000	0.03024	AGA		0.408	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		31	172	1	0	6.00712e-18	1	6.65163e-18	31	172				
STX18	53407	broad.mit.edu	37	4	4421790	4421790	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4421790A>G	ENST00000306200.2	-	11	1042	c.979T>C	c.(979-981)Ttg>Ctg	p.L327L	STX18_ENST00000505286.1_Intron	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	327					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		AGGAAGAGCAAGGAGAAGGAG	0.567																																						ENST00000306200.2																			0				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(979-981)Ttg>Ctg		syntaxin 18							74.0	62.0	66.0					4																	4421790		2203	4300	6503	SO:0001819	synonymous_variant	53407				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	g.chr4:4421790A>G	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.979T>C	4.37:g.4421790A>G						STX18_ENST00000505286.1_Intron	p.L327L	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)	11	1042	-			327					Q596L3|Q5TZP5	Silent	SNP	ENST00000306200.2	37	c.979T>C	CCDS3377.1																																																																																				0.567	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			12	100	0	0	0	1	0	12	100				
LAMA1	284217	broad.mit.edu	37	18	6973184	6973184	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6973184T>C	ENST00000389658.3	-	47	6739	c.6646A>G	c.(6646-6648)Agt>Ggt	p.S2216G	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2216	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCCTTTACACTCAGTGAACCA	0.378																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(6646-6648)Agt>Ggt		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						145.0	135.0	138.0					18																	6973184		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6973184T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6646A>G	18.37:g.6973184T>C	ENSP00000374309:p.Ser2216Gly						p.S2216G	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			47	6739	-		Colorectal(10;0.172)	2216			Laminin G-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6646A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287825	0.59976	.	.	ENSG00000101680	ENST00000389658	T	0.78126	-1.15	5.52	4.32	0.51571	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.407860	0.26836	N	0.022253	T	0.77432	0.4129	L	0.60845	1.875	0.28094	N	0.931683	P	0.40970	0.734	B	0.44315	0.446	T	0.71849	-0.4468	10	0.49607	T	0.09	.	12.8178	0.57675	0.0:0.0:0.1365:0.8635	.	2216	P25391	LAMA1_HUMAN	G	2216	ENSP00000374309:S2216G	ENSP00000374309:S2216G	S	-	1	0	LAMA1	6963184	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.058000	0.71126	0.992000	0.38840	0.523000	0.50628	AGT		0.378	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		14	356	0	0	0	1	0	14	356				
CEP95	90799	broad.mit.edu	37	17	62530843	62530843	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62530843C>T	ENST00000556440.2	+	17	2568	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	CEP95_ENST00000553412.1_Silent_p.T522T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	686						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAATGAGGACCCGGGAAGAAA	0.388																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(2056-2058)acC>acT		centrosomal protein 95kDa							79.0	79.0	79.0					17																	62530843		1876	4095	5971	SO:0001819	synonymous_variant	90799					centrosome|spindle pole	protein binding	g.chr17:62530843C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2058C>T	17.37:g.62530843C>T						CEP95_ENST00000553412.1_Silent_p.T522T	p.T686T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			17	2568	+			686					B4DMD2|Q96M81	Silent	SNP	ENST00000556440.2	37	c.2058C>T	CCDS45763.1																																																																																				0.388	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		16	72	0	0	0	1	0	16	72				
KLHDC7A	127707	broad.mit.edu	37	1	18809562	18809562	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18809562G>T	ENST00000400664.1	+	1	2139	c.2087G>T	c.(2086-2088)aGc>aTc	p.S696I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	696						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACCGCTGCAGCGCCAGCACC	0.662																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2086-2088)aGc>aTc		kelch domain containing 7A							74.0	64.0	67.0					1																	18809562		2203	4299	6502	SO:0001583	missense	127707					integral to membrane		g.chr1:18809562G>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2087G>T	1.37:g.18809562G>T	ENSP00000383505:p.Ser696Ile						p.S696I	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2139	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	696					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.2087G>T	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620703	0.66787	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.67865	-0.29	4.81	2.91	0.33838	Kelch-type beta propeller (1);	0.322414	0.32703	N	0.005745	T	0.63838	0.2545	L	0.44542	1.39	0.28668	N	0.905798	P;D	0.54397	0.904;0.966	P;P	0.49597	0.514;0.616	T	0.60880	-0.7175	10	0.66056	D	0.02	.	10.2337	0.43270	0.1672:0.0:0.8328:0.0	.	633;696	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	I	696;633	ENSP00000383505:S696I	ENSP00000383505:S696I	S	+	2	0	KLHDC7A	18682149	0.959000	0.32827	0.998000	0.56505	0.969000	0.65631	2.181000	0.42547	0.417000	0.25871	0.655000	0.94253	AGC		0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		8	349	1	0	0.000157383	1	0.000159814	8	349				
DHX30	22907	broad.mit.edu	37	3	47887317	47887317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47887317G>A	ENST00000445061.1	+	10	1474	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	DHX30_ENST00000446256.2_Missense_Mutation_p.R317H|DHX30_ENST00000457607.1_Missense_Mutation_p.R384H|DHX30_ENST00000348968.4_Missense_Mutation_p.R328H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	356						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCATCCTCCGCAAGATAGAG	0.597																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(949-951)cGc>cAc		DEAH (Asp-Glu-Ala-His) box helicase 30							97.0	82.0	87.0					3																	47887317		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887317G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1067G>A	3.37:g.47887317G>A	ENSP00000405620:p.Arg356His					DHX30_ENST00000445061.1_Missense_Mutation_p.R356H|DHX30_ENST00000348968.4_Missense_Mutation_p.R328H|DHX30_ENST00000457607.1_Missense_Mutation_p.R384H	p.R317H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	11	1522	+			356					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.950G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602048	0.66445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03272	4.0;4.0;4.0;3.99	5.38	4.5	0.54988	.	0.295143	0.36815	N	0.002387	T	0.03136	0.0092	L	0.36672	1.1	0.39684	D	0.970949	P;P	0.47677	0.803;0.899	B;B	0.36030	0.075;0.216	T	0.50906	-0.8772	10	0.49607	T	0.09	.	8.9981	0.36066	0.1622:0.0:0.8378:0.0	.	356;317	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	317;356;328;384	ENSP00000392601:R317H;ENSP00000405620:R356H;ENSP00000343442:R328H;ENSP00000394682:R384H	ENSP00000343442:R328H	R	+	2	0	DHX30	47862321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.898000	0.48672	2.527000	0.85204	0.655000	0.94253	CGC		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		61	251	0	0	0	1	0	61	251				
CDHR2	54825	broad.mit.edu	37	5	176005098	176005098	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176005098T>C	ENST00000510636.1	+	15	1848		c.e15+2		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGGAAATGGGTAAGGGCTCAG	0.637																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.e15+2		cadherin-related family member 2							34.0	36.0	35.0					5																	176005098		2203	4300	6503	SO:0001630	splice_region_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176005098T>C	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1574+2T>C	5.37:g.176005098T>C						CDHR2_ENST00000261944.5_Splice_Site|CDHR2_ENST00000506348.1_Splice_Site		NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			15	1848	+								A1L3U4|A6NC80|Q9NXP8	Splice_Site	SNP	ENST00000510636.1	37		CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881532	0.72294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9111	0.58181	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR2	175937704	1.000000	0.71417	0.985000	0.45067	0.849000	0.48306	5.592000	0.67543	1.993000	0.58246	0.448000	0.29417	.		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	Intron	36	118	0	0	0	1	0	36	118				
KIAA1919	91749	broad.mit.edu	37	6	111583508	111583508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111583508A>C	ENST00000368847.4	+	2	429	c.76A>C	c.(76-78)Aac>Cac	p.N26H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	26					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGGCAACAAACGTGAACCG	0.363																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(76-78)Aac>Cac		KIAA1919							291.0	272.0	278.0					6																	111583508		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111583508A>C	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.76A>C	6.37:g.111583508A>C	ENSP00000357840:p.Asn26His						p.N26H	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	2	429	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	26					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.76A>C	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728643	0.89390	.	.	ENSG00000173214	ENST00000368847	T	0.57907	0.37	5.84	5.84	0.93424	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.68952	2.095	0.53005	D	0.999962	P	0.46784	0.884	P	0.59424	0.857	T	0.62096	-0.6926	10	0.46703	T	0.11	-24.5747	15.8764	0.79166	1.0:0.0:0.0:0.0	.	26	Q5TF39	NAGT1_HUMAN	H	26	ENSP00000357840:N26H	ENSP00000357840:N26H	N	+	1	0	KIAA1919	111690201	1.000000	0.71417	0.800000	0.32199	0.934000	0.57294	8.088000	0.89523	2.234000	0.73211	0.459000	0.35465	AAC		0.363	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		165	697	0	0	0	1	0	165	697				
TRIP11	9321	broad.mit.edu	37	14	92470112	92470112	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92470112T>C	ENST00000267622.4	-	11	4581	c.4208A>G	c.(4207-4209)gAt>gGt	p.D1403G		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1403					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGCAAAACATCTTGTTTCTC	0.353			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4207-4209)gAt>gGt		thyroid hormone receptor interactor 11							106.0	103.0	104.0					14																	92470112		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470112T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4208A>G	14.37:g.92470112T>C	ENSP00000267622:p.Asp1403Gly						p.D1403G	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4581	-			1403					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4208A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955509	0.53293	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05580	3.42	5.36	4.21	0.49690	.	0.442134	0.25135	N	0.032875	T	0.10294	0.0252	L	0.47716	1.5	0.39889	D	0.973749	B;P	0.48503	0.015;0.911	B;P	0.47705	0.015;0.555	T	0.04255	-1.0965	10	0.59425	D	0.04	.	10.9328	0.47228	0.0:0.0738:0.0:0.9262	.	1139;1403	F5H1Z0;Q15643	.;TRIPB_HUMAN	G	1403;1139	ENSP00000267622:D1403G	ENSP00000267622:D1403G	D	-	2	0	TRIP11	91539865	1.000000	0.71417	0.007000	0.13788	0.455000	0.32408	4.849000	0.62882	0.875000	0.35847	0.379000	0.24179	GAT		0.353	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			81	358	0	0	0	1	0	81	358				
FGG	2266	broad.mit.edu	37	4	155526150	155526150	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155526150T>G	ENST00000336098.3	-	9	1236	c.1198A>C	c.(1198-1200)Acc>Ccc	p.T400P	FGG_ENST00000404648.3_Missense_Mutation_p.T400P|FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000405164.1_Missense_Mutation_p.T408P	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	400	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCACCGGGTTTTCCAAGTG	0.418																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1198-1200)Acc>Ccc		fibrinogen gamma chain	Sucralfate(DB00364)						147.0	138.0	141.0					4																	155526150		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526150T>G		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1198A>C	4.37:g.155526150T>G	ENSP00000336829:p.Thr400Pro					FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000336098.3_Missense_Mutation_p.T400P|FGG_ENST00000405164.1_Missense_Mutation_p.T408P	p.T400P	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			9	1437	-	all_hematologic(180;0.215)	Renal(120;0.0458)	400			Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.1198A>C	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.161777	0.38217	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	6.08	-1.2	0.09554	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.788626	0.12680	N	0.448038	T	0.63034	0.2477	N	0.20483	0.58	0.09310	N	1	B;B;B;B;B	0.21381	0.01;0.003;0.055;0.002;0.044	B;B;B;B;B	0.30572	0.074;0.064;0.117;0.006;0.044	T	0.56038	-0.8045	10	0.72032	D	0.01	.	7.9052	0.29757	0.2906:0.2134:0.0:0.4961	.	297;408;400;408;400	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	P	400;408;400;408	ENSP00000384860:T400P;ENSP00000384101:T408P;ENSP00000336829:T400P;ENSP00000384552:T408P	ENSP00000336829:T400P	T	-	1	0	FGG	155745600	0.996000	0.38824	0.787000	0.31911	0.983000	0.72400	0.610000	0.24253	-0.372000	0.07992	-0.360000	0.07572	ACC		0.418	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		102	458	0	0	0	1	0	102	458				
POLH	5429	broad.mit.edu	37	6	43565513	43565513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43565513A>G	ENST00000372236.4	+	5	866	c.571A>G	c.(571-573)Acc>Gcc	p.T191A	POLH_ENST00000372226.1_Missense_Mutation_p.T191A|POLH_ENST00000535400.1_Missense_Mutation_p.T129A	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTGCAGCTCACCGTGGGAGC	0.458								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													ENST00000372236.4																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(571-573)Acc>Gcc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), eta							120.0	121.0	120.0					6																	43565513		2203	4300	6503	SO:0001583	missense	5429	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43565513A>G	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.571A>G	6.37:g.43565513A>G	ENSP00000361310:p.Thr191Ala					POLH_ENST00000372226.1_Missense_Mutation_p.T191A|POLH_ENST00000535400.1_Missense_Mutation_p.T129A	p.T191A	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		5	866	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		191			UmuC.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.571A>G	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	A	5.086	0.201592	0.09652	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.70045	-0.45;-0.45;-0.45	5.4	5.4	0.78164	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.282328	0.40385	N	0.001111	T	0.13243	0.0321	N	0.00621	-1.32	0.39626	D	0.970104	B;B	0.12630	0.002;0.006	B;B	0.12837	0.005;0.008	T	0.33085	-0.9882	10	0.08381	T	0.77	-32.9496	9.0597	0.36427	0.9162:0.0:0.0838:0.0	.	129;191	B4DG64;Q9Y253	.;POLH_HUMAN	A	191;129;191	ENSP00000361310:T191A;ENSP00000442102:T129A;ENSP00000361300:T191A	ENSP00000361300:T191A	T	+	1	0	POLH	43673491	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.911000	0.48774	2.051000	0.60960	0.467000	0.42956	ACC		0.458	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		64	323	0	0	0	1	0	64	323				
ZDHHC22	283576	broad.mit.edu	37	14	77606018	77606018	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77606018T>C	ENST00000319374.4	-	2	266	c.64A>G	c.(64-66)Acc>Gcc	p.T22A	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	22					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGCACGAAGGTCACCAGGGAG	0.677											OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319374.4																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(64-66)Acc>Gcc		zinc finger, DHHC-type containing 22							10.0	13.0	12.0					14																	77606018		2105	4212	6317	SO:0001583	missense	283576					integral to membrane	acyltransferase activity|zinc ion binding	g.chr14:77606018T>C	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.64A>G	14.37:g.77606018T>C	ENSP00000318222:p.Thr22Ala		OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1177	RP11-463C8.4_ENST00000557752.1_Intron	p.T22A	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	2	266	-			22					A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	c.64A>G	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300149	0.95574	.	.	ENSG00000177108	ENST00000319374;ENST00000555389;ENST00000555327	T	0.55930	0.49	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.29908	0.895	0.80722	D	1	P	0.46656	0.882	P	0.48571	0.582	T	0.32348	-0.9910	10	0.09843	T	0.71	.	14.4951	0.67680	0.0:0.0:0.0:1.0	.	22	Q8N966	ZDH22_HUMAN	A	22	ENSP00000318222:T22A	ENSP00000318222:T22A	T	-	1	0	ZDHHC22	76675771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.673000	0.83973	2.163000	0.67991	0.459000	0.35465	ACC		0.677	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		7	45	0	0	0	1	0	7	45				
LRRFIP1	9208	broad.mit.edu	37	2	238632193	238632193	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238632193G>A	ENST00000392000.4	+	4	366				LRRFIP1_ENST00000308482.9_Silent_p.S116S|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCTGACAGTCGCAGCCTGACT	0.403																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(346-348)tcG>tcA		leucine rich repeat (in FLII) interacting protein 1							166.0	147.0	153.0					2																	238632193		1568	3582	5150	SO:0001627	intron_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238632193G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.249+2728G>A	2.37:g.238632193G>A						LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron	p.S116S	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	7	417	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	c.348G>A	CCDS46552.1																																																																																				0.403	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		60	325	0	0	0	1	0	60	325				
COPZ2	51226	broad.mit.edu	37	17	46106511	46106511	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46106511T>C	ENST00000006101.4	-	8	519	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	176					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						ACCTTCTGGATCACTTGCTGG	0.532																																						ENST00000006101.4																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(520-522)Atc>Gtc		coatomer protein complex, subunit zeta 2							48.0	51.0	50.0					17																	46106511		1933	4142	6075	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46106511T>C	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.520A>G	17.37:g.46106511T>C	ENSP00000006101:p.Ile174Val					COPZ2_ENST00000584666.1_5'UTR	p.I174V	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN			8	519	-			176						Missense_Mutation	SNP	ENST00000006101.4	37	c.520A>G		.	.	.	.	.	.	.	.	.	.	T	10.52	1.374389	0.24857	.	.	ENSG00000005243	ENST00000006101	.	.	.	4.04	-1.33	0.09172	Longin-like (1);AP complex, mu/sigma subunit (1);	0.449517	0.21559	N	0.072601	T	0.17066	0.0410	N	0.03209	-0.39	0.33074	D	0.53575	B	0.02656	0.0	B	0.09377	0.004	T	0.44097	-0.9350	9	0.02654	T	1	-29.0323	9.9016	0.41351	0.0:0.505:0.0:0.495	.	176	Q9P299	COPZ2_HUMAN	V	174	.	ENSP00000006101:I174V	I	-	1	0	COPZ2	43461510	0.993000	0.37304	0.994000	0.49952	0.994000	0.84299	0.260000	0.18424	-0.265000	0.09352	0.448000	0.29417	ATC		0.532	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		8	13	0	0	0	1	0	8	13				
SPARCL1	8404	broad.mit.edu	37	4	88415481	88415481	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415481G>T	ENST00000282470.6	-	4	941	c.471C>A	c.(469-471)atC>atA	p.I157I	SPARCL1_ENST00000503414.1_Silent_p.I32I|SPARCL1_ENST00000418378.1_Silent_p.I157I	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	157					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTCTCTTTGTGATACTTTCTT	0.403																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(469-471)atC>atA		SPARC-like 1 (hevin)							164.0	159.0	161.0					4																	88415481		2203	4300	6503	SO:0001819	synonymous_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415481G>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.471C>A	4.37:g.88415481G>T						SPARCL1_ENST00000503414.1_Silent_p.I32I|SPARCL1_ENST00000282470.6_Silent_p.I157I	p.I157I	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1042	-			157					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.471C>A	CCDS3622.1																																																																																				0.403	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			136	643	1	0	7.8029e-68	1	9.88841e-68	136	643				
TRIM59	286827	broad.mit.edu	37	3	160156854	160156854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156854C>A	ENST00000309784.4	-	3	303	c.118G>T	c.(118-120)Gca>Tca	p.A40S	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A40S|TRIM59_ENST00000543469.1_Missense_Mutation_p.A40S	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	40					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTACCAGATGCCTGAAGAATG	0.358																																						ENST00000543469.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(118-120)Gca>Tca		tripartite motif containing 59							71.0	73.0	72.0					3																	160156854		2203	4300	6503	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156854C>A	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.118G>T	3.37:g.160156854C>A	ENSP00000311219:p.Ala40Ser					TRIM59_ENST00000309784.4_Missense_Mutation_p.A40S|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A40S	p.A40S			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	332	-			40					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.118G>T	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857260	0.71834	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222;ENST00000471155;ENST00000494486;ENST00000468542	T;T;D;D;D;D;D;D	0.92752	1.11;1.11;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.258560	0.39615	N	0.001303	D	0.83667	0.5304	N	0.10618	0.0049999999999999	0.27882	N	0.939651	B	0.32128	0.357	B	0.38225	0.268	T	0.74562	-0.3624	9	.	.	.	8.2121	10.7133	0.45997	0.1289:0.6954:0.1758:0.0	.	40	Q8IWR1	TRI59_HUMAN	S	40;40;40;40;68;40;40;47	ENSP00000444313:A40S;ENSP00000311219:A40S;ENSP00000417081:A40S;ENSP00000420520:A40S;ENSP00000418856:A68S;ENSP00000418699:A40S;ENSP00000417605:A40S;ENSP00000420451:A47S	.	A	-	1	0	TRIM59	161639548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.655000	0.46707	2.941000	0.99782	0.655000	0.94253	GCA		0.358	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		15	415	1	0	3.45872e-05	1	3.53336e-05	15	415				
PYCR1	5831	broad.mit.edu	37	17	79892866	79892866	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79892866C>A	ENST00000329875.8	-	4	540	c.476G>T	c.(475-477)tGc>tTc	p.C159F	PYCR1_ENST00000337943.5_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000577756.1_Missense_Mutation_p.C159F|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	159					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CACCTCCGTGCAGAAGCCCAC	0.697																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(475-477)tGc>tTc		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)						50.0	42.0	45.0					17																	79892866		2203	4299	6502	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892866C>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.476G>T	17.37:g.79892866C>A	ENSP00000328858:p.Cys159Phe					PYCR1_ENST00000329875.8_Missense_Mutation_p.C159F|PYCR1_ENST00000577756.1_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F	p.C159F	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	918	-	all_neural(118;0.0878)|Ovarian(332;0.12)		159					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.476G>T	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360369	0.82353	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.13	4.13	0.48395	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.64630	1.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.985;0.997;0.998;0.997;0.998;0.982;0.999	T	0.80412	-0.1393	10	0.87932	D	0	.	16.0278	0.80555	0.0:1.0:0.0:0.0	.	131;186;159;159;159;159;159	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	F	159;159;159;186;131	ENSP00000336579:C159F;ENSP00000328858:C159F;ENSP00000385483:C159F;ENSP00000384949:C186F	ENSP00000328858:C159F	C	-	2	0	PYCR1	77486157	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.594000	0.82698	1.866000	0.54105	0.555000	0.69702	TGC		0.697	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			32	206	1	0	1.26612e-14	1	1.37737e-14	32	206				
ELMOD2	255520	broad.mit.edu	37	4	141464612	141464612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141464612C>T	ENST00000323570.3	+	8	740	c.608C>T	c.(607-609)tCt>tTt	p.S203F		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	203	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CATAGGTATTCTTATGCAATA	0.328																																						ENST00000323570.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(607-609)tCt>tTt		ELMO/CED-12 domain containing 2							124.0	129.0	127.0					4																	141464612		2203	4297	6500	SO:0001583	missense	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141464612C>T	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.608C>T	4.37:g.141464612C>T	ENSP00000326342:p.Ser203Phe						p.S203F	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			8	740	+	all_hematologic(180;0.162)		203			ELMO.		B2R712|D3DNZ0	Missense_Mutation	SNP	ENST00000323570.3	37	c.608C>T	CCDS3752.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855224	0.71719	.	.	ENSG00000179387	ENST00000323570	T	0.30981	1.51	6.16	6.16	0.99307	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.49607	T	0.09	-1.3426	20.8598	0.99761	0.0:1.0:0.0:0.0	.	203	Q8IZ81	ELMD2_HUMAN	F	203	ENSP00000326342:S203F	ENSP00000326342:S203F	S	+	2	0	ELMOD2	141684062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.937000	0.99478	0.650000	0.86243	TCT		0.328	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		84	448	0	0	0	1	0	84	448				
TLN2	83660	broad.mit.edu	37	15	63084884	63084884	+	Silent	SNP	C	C	A	rs199706459		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63084884C>A	ENST00000561311.1	+	45	6011	c.5781C>A	c.(5779-5781)ggC>ggA	p.G1927G	TLN2_ENST00000306829.6_Silent_p.G1927G			Q9Y4G6	TLN2_HUMAN	talin 2	1927					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGCCACGGCTGTATCTTCC	0.612																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5779-5781)ggC>ggA		talin 2							70.0	60.0	63.0					15																	63084884		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63084884C>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5781C>A	15.37:g.63084884C>A						TLN2_ENST00000306829.6_Silent_p.G1927G	p.G1927G			Q9Y4G6	TLN2_HUMAN			45	6011	+			1927					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.5781C>A	CCDS32261.1																																																																																				0.612	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			57	207	1	0	9.59835e-30	1	1.1228e-29	57	207				
A2ML1	144568	broad.mit.edu	37	12	9016434	9016434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9016434G>A	ENST00000299698.7	+	29	3727	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T	A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATCATCGAACGCCAGCCCTTG	0.488																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3547-3549)Gcc>Acc		alpha-2-macroglobulin-like 1							76.0	74.0	75.0					12																	9016434		1914	4153	6067	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9016434G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3547G>A	12.37:g.9016434G>A	ENSP00000299698:p.Ala1183Thr					A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	p.A1183T	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			29	3727	+			1027						Missense_Mutation	SNP	ENST00000299698.7	37	c.3547G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	7.875	0.729032	0.15507	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.33438	1.41;1.41;1.41	4.09	2.96	0.34315	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.733359	0.11961	N	0.512732	T	0.12646	0.0307	N	0.10664	0.02	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.34004	-0.9846	10	0.12430	T	0.62	.	3.8258	0.08853	0.2646:0.1927:0.5427:0.0	.	1183	A8K2U0	A2ML1_HUMAN	T	1183;1183;733;692	ENSP00000299698:A1183T;ENSP00000443174:A733T;ENSP00000438292:A692T	ENSP00000299698:A1183T	A	+	1	0	A2ML1	8907701	0.000000	0.05858	0.008000	0.14137	0.348000	0.29142	0.647000	0.24812	0.789000	0.33779	0.591000	0.81541	GCC		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		71	264	0	0	0	1	0	71	264				
THNSL2	55258	broad.mit.edu	37	2	88485522	88485522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88485522G>A	ENST00000324166.5	+	8	3026	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000358591.2_Silent_p.E445E|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000449349.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	445					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TAGCCCTGGAGCACAAGGAGA	0.632																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1333-1335)gaG>gaA		threonine synthase-like 2 (S. cerevisiae)							47.0	53.0	51.0					2																	88485522		2195	4283	6478	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88485522G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1335G>A	2.37:g.88485522G>A						THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000358591.2_Silent_p.E445E|THNSL2_ENST00000449349.1_3'UTR|THNSL2_ENST00000343544.4_3'UTR	p.E445E	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			8	3026	+			445					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.1335G>A	CCDS2002.2																																																																																				0.632	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		24	67	0	0	0	1	0	24	67				
DCDC1	341019	broad.mit.edu	37	11	30914541	30914541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30914541G>A	ENST00000597505.1	-	34	4896	c.4897C>T	c.(4897-4899)Cac>Tac	p.H1633Y	DCDC1_ENST00000406071.2_Missense_Mutation_p.H371Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCAGAAAGGTGTGCCTGTCAA	0.373																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4897-4899)Cac>Tac		doublecortin domain containing 1							119.0	113.0	115.0					11																	30914541		1843	4086	5929	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30914541G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4897C>T	11.37:g.30914541G>A	ENSP00000472625:p.His1633Tyr					DCDC1_ENST00000406071.2_Missense_Mutation_p.H371Y	p.H1633Y			P59894	DCDC1_HUMAN			34	4896	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.4897C>T		.	.	.	.	.	.	.	.	.	.	G	12.80	2.046917	0.36085	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.94	5.03	0.67393	.	.	.	.	.	T	0.57548	0.2061	L	0.35854	1.095	0.80722	D	1	.	.	.	.	.	.	T	0.59506	-0.7442	6	0.52906	T	0.07	.	12.2274	0.54468	0.079:0.0:0.921:0.0	.	.	.	.	Y	371	.	ENSP00000385936:H371Y	H	-	1	0	DCDC5	30871117	0.052000	0.20516	0.513000	0.27749	0.668000	0.39293	1.766000	0.38491	1.533000	0.49186	0.650000	0.86243	CAC		0.373	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		82	313	0	0	0	1	0	82	313				
LIX1	167410	broad.mit.edu	37	5	96430577	96430577	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96430577G>A	ENST00000274382.4	-	6	1019	c.724C>T	c.(724-726)Cta>Tta	p.L242L	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	242										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TAAAACCGTAGTTCTTGTCCT	0.498																																						ENST00000274382.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(724-726)Cta>Tta		Lix1 homolog (chicken)							123.0	124.0	123.0					5																	96430577		2203	4300	6503	SO:0001819	synonymous_variant	167410							g.chr5:96430577G>A		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.724C>T	5.37:g.96430577G>A						CTD-2215E18.1_ENST00000509481.1_Intron	p.L242L	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	6	1019	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	242					A8K4R9|Q8N7I2	Silent	SNP	ENST00000274382.4	37	c.724C>T	CCDS4088.1																																																																																				0.498	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		98	454	0	0	0	1	0	98	454				
PXN	5829	broad.mit.edu	37	12	120650126	120650126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120650126G>A	ENST00000228307.7	-	12	1908	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000458477.2_Silent_p.L422L|PXN_ENST00000397506.3_Silent_p.L401L|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000536957.1_Silent_p.L587L|PXN-AS1_ENST00000538804.1_RNA|PXN_ENST00000424649.2_Silent_p.L555L|PXN_ENST00000267257.7_Silent_p.L603L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	589	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTAGCAGAAGAGCTTGAGGA	0.587																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1201-1203)ctC>ctT		paxillin							66.0	75.0	72.0					12																	120650126		2101	4216	6317	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120650126G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1767C>T	12.37:g.120650126G>A						PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Silent_p.L589L|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000424649.2_Silent_p.L555L|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000267257.7_Silent_p.L603L|PXN_ENST00000536957.1_Silent_p.L587L|PXN_ENST00000458477.2_Silent_p.L422L	p.L401L			P49023	PAXI_HUMAN			9	2256	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		589			LIM zinc-binding 1.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.1203C>T	CCDS44997.1																																																																																				0.587	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		35	117	0	0	0	1	0	35	117				
ODF1	4956	broad.mit.edu	37	8	103564276	103564276	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564276G>T	ENST00000285402.3	+	1	476		c.e1+1			NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCTTGCCAAGtaaaataact	0.343																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.e1+1		outer dense fiber of sperm tails 1							51.0	50.0	50.0					8																	103564276		2203	4300	6503	SO:0001630	splice_region_variant	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564276G>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.320+1G>T	8.37:g.103564276G>T								NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	476	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)							Q3SX72	Splice_Site	SNP	ENST00000285402.3	37		CCDS6293.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034235	0.54896	.	.	ENSG00000155087	ENST00000285402	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0344	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF1	103633452	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	4.746000	0.62133	2.601000	0.87937	0.655000	0.94253	.		0.343	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		Intron	58	235	1	0	5.22555e-25	1	5.98653e-25	58	235				
LRFN5	145581	broad.mit.edu	37	14	42360546	42360546	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360546C>T	ENST00000298119.4	+	4	2668	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	493	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGATGATGGCATCACTTCCC	0.458										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1477-1479)ggC>ggT		leucine rich repeat and fibronectin type III domain containing 5							210.0	176.0	187.0					14																	42360546		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42360546C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1479C>T	14.37:g.42360546C>T		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.G493G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2668	+			493			Fibronectin type-III.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1479C>T	CCDS9678.1																																																																																				0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		177	731	0	0	0	1	0	177	731				
ECEL1	9427	broad.mit.edu	37	2	233346332	233346332	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346332A>G	ENST00000304546.1	-	14	2083	c.1873T>C	c.(1873-1875)Tat>Cat	p.Y625H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	625					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGCGGTCATACTGGCCCCCT	0.647																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1873-1875)Tat>Cat		endothelin converting enzyme-like 1							54.0	52.0	52.0					2																	233346332		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346332A>G	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1873T>C	2.37:g.233346332A>G	ENSP00000302051:p.Tyr625His					ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	p.Y625H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	14	2083	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	625					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1873T>C	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992763	0.74703	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.84070	-1.8;-1.8;-1.8	5.48	4.29	0.51040	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.061993	0.64402	D	0.000002	D	0.92355	0.7574	M	0.92317	3.295	0.53688	D	0.999975	D;D	0.76494	0.999;0.999	D;D	0.75020	0.931;0.985	D	0.93309	0.6683	10	0.87932	D	0	0.4595	12.7306	0.57195	0.8626:0.1374:0.0:0.0	.	623;625	O95672-2;O95672	.;ECEL1_HUMAN	H	40;625;623	ENSP00000412683:Y40H;ENSP00000302051:Y625H;ENSP00000386333:Y623H	ENSP00000302051:Y625H	Y	-	1	0	ECEL1	233054576	1.000000	0.71417	0.904000	0.35570	0.965000	0.64279	7.440000	0.80464	0.988000	0.38734	0.456000	0.33151	TAT		0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		51	226	0	0	0	1	0	51	226				
SCNN1D	6339	broad.mit.edu	37	1	1225717	1225717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1225717C>T	ENST00000338555.2	+	10	2381	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S|SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	413					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CTACCTCCACCCTCTGCCGGC	0.667																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(1237-1239)Cct>Tct		sodium channel, non-voltage-gated 1, delta subunit							41.0	42.0	42.0					1																	1225717		2189	4291	6480	SO:0001583	missense	6339							g.chr1:1225717C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1237C>T	1.37:g.1225717C>T	ENSP00000339504:p.Pro413Ser					SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S|SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S	p.P413S						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	10	2381	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1237C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.14|14.14	2.447329|2.447329	0.43429|0.43429	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379099|ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	.|T;T;T;T	.|0.72942	.|-0.65;-0.7;-0.69;-0.7	3.13|3.13	2.09|2.09	0.27110|0.27110	.|.	0.484380|0.484380	0.16350|0.16350	U|U	0.218259|0.218259	D|D	0.83862|0.83862	0.5346|0.5346	M|M	0.87381|0.87381	2.88|2.88	0.28260|0.28260	N|N	0.92488|0.92488	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.976	T|T	0.75485|0.75485	-0.3301|-0.3301	6|10	.|0.87932	.|D	.|0	.|.	10.4602|10.4602	0.44575|0.44575	0.0:0.8003:0.1997:0.0|0.0:0.8003:0.1997:0.0	.|.	.|235;413;577	.|B1AMF2;P51172;A6NNF7	.|.;SCNND_HUMAN;.	L|S	229|444;577;413;479;413	.|ENSP00000368411:P577S;ENSP00000339504:P413S;ENSP00000321594:P479S;ENSP00000383717:P413S	.|ENSP00000321594:P479S	P|P	+|+	2|1	0|0	SCNN1D|SCNN1D	1215580|1215580	0.990000|0.990000	0.36364|0.36364	0.093000|0.093000	0.20910|0.20910	0.012000|0.012000	0.07955|0.07955	2.636000|2.636000	0.46545|0.46545	1.302000|1.302000	0.44855|0.44855	0.306000|0.306000	0.20318|0.20318	CCC|CCT		0.667	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		33	277	0	0	0	1	0	33	277				
CWH43	80157	broad.mit.edu	37	4	49000506	49000506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49000506G>A	ENST00000226432.4	+	6	926	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CWH43_ENST00000513409.1_Missense_Mutation_p.G221E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	248					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCAAGTGGATTGATGCTT	0.413																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(742-744)gGa>gAa		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							565.0	430.0	476.0					4																	49000506		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49000506G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.743G>A	4.37:g.49000506G>A	ENSP00000226432:p.Gly248Glu					CWH43_ENST00000513409.1_Missense_Mutation_p.G221E	p.G248E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			6	926	+			248					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.743G>A	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089447	0.55968	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.52526	1.22;0.66	4.16	4.16	0.48862	.	0.000000	0.47455	D	0.000229	T	0.66839	0.2830	M	0.69823	2.125	0.46437	D	0.999042	D	0.89917	1.0	D	0.97110	1.0	T	0.67573	-0.5636	9	.	.	.	.	15.8982	0.79350	0.0:0.0:1.0:0.0	.	248	Q9H720	PG2IP_HUMAN	E	248;221	ENSP00000226432:G248E;ENSP00000422802:G221E	.	G	+	2	0	CWH43	48695263	1.000000	0.71417	0.997000	0.53966	0.370000	0.29829	5.658000	0.68003	2.618000	0.88619	0.591000	0.81541	GGA		0.413	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		74	419	0	0	0	1	0	74	419				
EIF3K	27335	broad.mit.edu	37	19	39116677	39116677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39116677C>T	ENST00000538434.1	+	3	263	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W|EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W|EIF3K_ENST00000545173.2_Missense_Mutation_p.R97W|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCAAGAAGAACGGCCAATCCG	0.582																																						ENST00000545173.2																		EIF3K/CYP39A1(2)	0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(289-291)Cgg>Tgg		eukaryotic translation initiation factor 3, subunit K							135.0	118.0	123.0					19																	39116677		2203	4300	6503	SO:0001583	missense	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39116677C>T	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.28C>T	19.37:g.39116677C>T	ENSP00000440999:p.Arg10Trp					EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W|EIF3K_ENST00000538434.1_Missense_Mutation_p.R10W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W	p.R97W			Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	365	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		97						Missense_Mutation	SNP	ENST00000538434.1	37	c.289C>T		.	.	.	.	.	.	.	.	.	.	C	9.506	1.104402	0.20632	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	4.29	1.93	0.25924	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.43211	0.1237	N	0.22421	0.69	0.50467	D	0.999876	B;B;B	0.14805	0.011;0.003;0.006	B;B;B	0.13407	0.003;0.009;0.009	T	0.41124	-0.9526	9	0.87932	D	0	-25.1521	13.4671	0.61260	0.3402:0.6598:0.0:0.0	.	10;97;97	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	W	97;10;97	.	ENSP00000248342:R97W	R	+	1	2	EIF3K	43808517	1.000000	0.71417	0.996000	0.52242	0.461000	0.32589	1.898000	0.39809	0.521000	0.28445	-1.357000	0.01221	CGG		0.582	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	NM_013234		128	616	0	0	0	1	0	128	616				
DIEXF	27042	broad.mit.edu	37	1	210003473	210003473	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210003473A>C	ENST00000491415.2	+	2	185	c.128A>C	c.(127-129)aAg>aCg	p.K43T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	43					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGGAAGCAAAGCCACAGATT	0.323																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(127-129)aAg>aCg		digestive organ expansion factor homolog (zebrafish)							153.0	152.0	152.0					1																	210003473		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210003473A>C	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.128A>C	1.37:g.210003473A>C	ENSP00000419005:p.Lys43Thr						p.K43T	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			2	185	+			43					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.128A>C	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494594	0.26774	.	.	ENSG00000117597	ENST00000491415	T	0.48201	0.82	4.61	4.61	0.57282	.	0.211553	0.47093	D	0.000249	T	0.40498	0.1119	L	0.49350	1.555	0.29871	N	0.826792	B	0.17852	0.024	B	0.15870	0.014	T	0.39099	-0.9630	10	0.42905	T	0.14	-24.85	9.8382	0.40982	0.6695:0.3305:0.0:0.0	.	43	Q68CQ4	DIEXF_HUMAN	T	43	ENSP00000419005:K43T	ENSP00000419005:K43T	K	+	2	0	DIEXF	208070096	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.872000	0.28037	1.924000	0.55735	0.459000	0.35465	AAG		0.323	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		55	157	0	0	0	1	0	55	157				
ZMYND8	23613	broad.mit.edu	37	20	45867626	45867626	+	Silent	SNP	C	C	T	rs190889041	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45867626C>T	ENST00000311275.7	-	15	2734	c.2481G>A	c.(2479-2481)acG>acA	p.T827T	ZMYND8_ENST00000471951.2_Silent_p.T847T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000540497.1_Silent_p.T775T|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000355972.4_Silent_p.T827T|ZMYND8_ENST00000396281.4_Silent_p.T827T|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000536340.1_Silent_p.T854T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	827					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTTGGGAGGACGTTTGAAACT	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		15583	0.002		0.0	False		,,,				2504	0.0					ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2479-2481)acG>acA		zinc finger, MYND-type containing 8							59.0	67.0	64.0					20																	45867626		2185	4274	6459	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45867626C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2481G>A	20.37:g.45867626C>T						ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000355972.4_Silent_p.T827T|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000471951.2_Silent_p.T847T|ZMYND8_ENST00000536340.1_Silent_p.T854T|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000396281.4_Silent_p.T827T|ZMYND8_ENST00000540497.1_Silent_p.T775T|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Intron	p.T827T			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		15	2734	-			827					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.2481G>A																																																																																					0.572	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		107	536	0	0	0	1	0	107	536				
HELZ	9931	broad.mit.edu	37	17	65144688	65144688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65144688A>G	ENST00000358691.5	-	20	2784	c.2618T>C	c.(2617-2619)aTc>aCc	p.I873T	HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	873						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CACCTACTTGATGATAGCTTC	0.483																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2617-2619)aTc>aCc		helicase with zinc finger							193.0	190.0	191.0					17																	65144688		1937	4147	6084	SO:0001583	missense	9931							g.chr17:65144688A>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2618T>C	17.37:g.65144688A>G	ENSP00000351524:p.Ile873Thr					HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	p.I873T	NM_014877.3	NP_055692.2					20	2784	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2618T>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671671	0.47781	.	.	ENSG00000198265	ENST00000358691	D	0.82984	-1.67	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.978;0.986	D	0.92074	0.5667	10	0.87932	D	0	.	16.1449	0.81559	1.0:0.0:0.0:0.0	.	874;873	B7ZLW2;P42694	.;HELZ_HUMAN	T	873	ENSP00000351524:I873T	ENSP00000351524:I873T	I	-	2	0	HELZ	62575150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.426000	0.90273	2.269000	0.75478	0.455000	0.32223	ATC		0.483	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		74	843	0	0	0	1	0	74	843				
PTPN21	11099	broad.mit.edu	37	14	88983460	88983460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983460G>T	ENST00000556564.1	-	3	610	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	109	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCAGCTGAGAAACTGAAGG	0.403																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(325-327)tCt>tAt		protein tyrosine phosphatase, non-receptor type 21							106.0	96.0	100.0					14																	88983460		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983460G>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.326C>A	14.37:g.88983460G>T	ENSP00000452414:p.Ser109Tyr					PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y|PTPN21_ENST00000554628.1_5'UTR	p.S109Y	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			3	610	-			109			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.326C>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984700	0.35036	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78595	-1.19;-1.19;-1.19	5.77	3.96	0.45880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.361101	0.26307	N	0.025124	D	0.85609	0.5736	M	0.85777	2.775	0.09310	N	0.999997	B;P	0.48016	0.125;0.904	B;P	0.54312	0.094;0.748	T	0.79266	-0.1874	10	0.87932	D	0	.	12.6804	0.56918	0.1189:0.0:0.8811:0.0	.	109;109	G3V3S6;Q16825	.;PTN21_HUMAN	Y	109	ENSP00000330276:S109Y;ENSP00000452414:S109Y;ENSP00000451401:S109Y	ENSP00000330276:S109Y	S	-	2	0	PTPN21	88053213	0.987000	0.35691	0.012000	0.15200	0.253000	0.25986	3.331000	0.52075	0.796000	0.33947	0.561000	0.74099	TCT		0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			63	275	1	0	7.73544e-29	1	9.01949e-29	63	275				
CNBP	7555	broad.mit.edu	37	3	128890615	128890615	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890615C>A	ENST00000422453.2	-	2	147		c.e2-1		CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000502976.1_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000500450.2_Splice_Site|CNBP_ENST00000446936.2_Splice_Site	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein						cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GCAGTCAGATCTTTGAAATAT	0.413																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.e2-1		CCHC-type zinc finger, nucleic acid binding protein							34.0	35.0	35.0					3																	128890615		2203	4300	6503	SO:0001630	splice_region_variant	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890615C>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.14-1G>T	3.37:g.128890615C>A						CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000446936.2_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000502976.1_Splice_Site|CNBP_ENST00000500450.2_Splice_Site|CNBP_ENST00000451728.2_Splice_Site		NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			2	147	-								A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Splice_Site	SNP	ENST00000422453.2	37		CCDS3056.1																																																																																				0.413	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418	Intron	18	185	1	0	9.7654e-05	1	9.93505e-05	18	185				
CTDP1	9150	broad.mit.edu	37	18	77513682	77513682	+	Silent	SNP	C	C	T	rs112322343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77513682C>T	ENST00000299543.7	+	13	2925	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	926					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ATGAAGAGGACGCCGCCAGCG	0.627																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(2776-2778)gaC>gaT		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	49.0	51.0	50.0		2421,2778,	-6.0	0.0	18	dbSNP_132	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,utr-3	CTDP1	NM_001202504.1,NM_004715.4,NM_048368.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	807/843,926/962,	77513682	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77513682C>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2778C>T	18.37:g.77513682C>T						CTDP1_ENST00000075430.7_3'UTR	p.D926D	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	13	2925	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	926					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	c.2778C>T	CCDS12017.1																																																																																				0.627	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		53	193	0	0	0	1	0	53	193				
CDK4	1019	broad.mit.edu	37	12	58144864	58144864	+	Missense_Mutation	SNP	G	G	A	rs587778185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58144864G>A	ENST00000257904.6	-	4	729	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R2C	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs34386532). {ECO:0000269|PubMed:17344846}.		cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGAAACTGGCGCATCAGATCC	0.473			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(364-366)Cgc>Tgc		cyclin-dependent kinase 4							83.0	78.0	80.0					12																	58144864		2203	4300	6503	SO:0001583	missense	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58144864G>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.364C>T	12.37:g.58144864G>A	ENSP00000257904:p.Arg122Cys					CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R2C|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron	p.R122C	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	729	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		122		R -> H (in dbSNP:rs34386532).	Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.364C>T	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879269	0.51801	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;1.97;1.97	4.76	1.31	0.21738	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.299629	0.31199	N	0.008063	T	0.45094	0.1325	L	0.47078	1.49	0.80722	D	1	D	0.65815	0.995	P	0.52758	0.708	T	0.38929	-0.9638	10	0.66056	D	0.02	.	4.5789	0.12248	0.2204:0.0:0.54:0.2396	.	122	P11802	CDK4_HUMAN	C	122;2;48;48;48;122;122	ENSP00000257904:R122C;ENSP00000439076:R2C;ENSP00000447779:R48C;ENSP00000447274:R48C;ENSP00000449391:R48C;ENSP00000449179:R122C;ENSP00000448963:R122C	ENSP00000257904:R122C	R	-	1	0	CDK4	56431131	0.174000	0.23070	1.000000	0.80357	0.969000	0.65631	0.397000	0.20883	0.541000	0.28827	0.655000	0.94253	CGC		0.473	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		91	316	0	0	0	1	0	91	316				
DOT1L	84444	broad.mit.edu	37	19	2226885	2226885	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226885G>A	ENST00000398665.3	+	27	4401	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1455					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGCGGCGTCCTCCGCCC	0.756																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(4363-4365)gcG>gcA		DOT1-like histone H3K79 methyltransferase							8.0	11.0	10.0					19																	2226885		1781	3872	5653	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226885G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4365G>A	19.37:g.2226885G>A							p.A1455A	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4401	+		Hepatocellular(1079;0.137)	1455					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.4365G>A	CCDS42460.1																																																																																				0.756	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		38	125	0	0	0	1	0	38	125				
ZNF835	90485	broad.mit.edu	37	19	57176450	57176450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176450G>A	ENST00000537055.2	-	2	348	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCAGGCCACGGCCTCTGGCT	0.602																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(115-117)gcC>gcT		zinc finger protein 835							78.0	84.0	82.0					19																	57176450		1994	4165	6159	SO:0001819	synonymous_variant	90485							g.chr19:57176450G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.117C>T	19.37:g.57176450G>A							p.A39A	NM_001005850.2	NP_001005850.2					2	348	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.117C>T	CCDS56105.1																																																																																				0.602	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		54	295	0	0	0	1	0	54	295				
TTN	7273	broad.mit.edu	37	2	179481716	179481716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481716G>A	ENST00000591111.1	-	206	43201	c.42977C>T	c.(42976-42978)gCa>gTa	p.A14326V	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A15967V|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14326					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)			ATCTTTAAATGCACTTAAATC	0.408																																						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.(47899-47901)gCa>gTa		titin							129.0	125.0	126.0					2																	179481716		1861	4092	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481716G>A	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.42977C>T	2.37:g.179481716G>A	ENSP00000465570:p.Ala14326Val					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A14326V	p.A15967V	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)		256	48124	-			14326			Fibronectin type-III 16.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.47900C>T		.	.	.	.	.	.	.	.	.	.	G	12.12	1.842310	0.32513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.21;0.2;0.21	5.91	3.94	0.45596	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64405	0.2595	M	0.62723	1.935	0.37973	D	0.933336	B;B;B;P	0.35493	0.22;0.22;0.22;0.505	B;B;B;B	0.42319	0.119;0.119;0.207;0.383	T	0.72200	-0.4362	9	0.87932	D	0	.	12.2373	0.54522	0.0:0.0999:0.6366:0.2635	.	6902;7027;7094;14326	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13399;6902;7094;7027;6902	ENSP00000343764:A13399V;ENSP00000434586:A6902V;ENSP00000340554:A7094V;ENSP00000352154:A7027V	ENSP00000340554:A7094V	A	-	2	0	TTN	179189961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.597000	0.61062	1.483000	0.48342	0.655000	0.94253	GCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		103	548	0	0	0	1	0	103	548				
MACF1	23499	broad.mit.edu	37	1	39801495	39801495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39801495C>A	ENST00000372915.3	+	36	9337	c.9250C>A	c.(9250-9252)Ctc>Atc	p.L3084I	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000564288.1_Missense_Mutation_p.L3079I|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3084					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L1519I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAATTTAAGTCTCTGCTTGAC	0.403																																						ENST00000564288.1																			1	Substitution - Missense(1)	p.L1519I(1)	large_intestine(1)	breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(9235-9237)Ctc>Atc		microtubule-actin crosslinking factor 1							43.0	49.0	47.0					1																	39801495		2202	4300	6502	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801495C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9250C>A	1.37:g.39801495C>A	ENSP00000362006:p.Leu3084Ile					MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000372915.3_Missense_Mutation_p.L3084I|MACF1_ENST00000361689.2_Intron	p.L3079I			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	10012	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3084					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9235C>A		.	.	.	.	.	.	.	.	.	.	C	2.677	-0.276160	0.05679	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71222	-0.55;0.35	5.23	-0.429	0.12303	.	1.243890	0.05633	N	0.582132	T	0.51329	0.1668	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.39231	-0.9624	10	0.54805	T	0.06	.	1.3539	0.02178	0.2044:0.3456:0.2775:0.1725	.	3084	Q9UPN3	MACF1_HUMAN	I	3084;1519	ENSP00000362006:L3084I;ENSP00000289893:L1519I	ENSP00000289893:L1519I	L	+	1	0	MACF1	39574082	0.000000	0.05858	0.161000	0.22692	0.302000	0.27658	-0.371000	0.07513	-0.039000	0.13602	-0.257000	0.10917	CTC		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		26	270	1	0	7.92952e-12	1	8.47903e-12	26	270				
IL16	3603	broad.mit.edu	37	15	81571983	81571983	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81571983C>T	ENST00000302987.4	+	7	949	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	IL16_ENST00000394660.2_Silent_p.L317L			Q14005	IL16_HUMAN	interleukin 16	317	Interaction with GRIN2A.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCTCCCCCACTGTGCCGCTC	0.607																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(949-951)Ctg>Ttg		interleukin 16							39.0	42.0	41.0					15																	81571983		1964	4158	6122	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81571983C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.949C>T	15.37:g.81571983C>T						IL16_ENST00000302987.4_Silent_p.L317L	p.L317L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			8	1309	+			317			Interaction with GRIN2A.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.949C>T	CCDS42069.1																																																																																				0.607	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		49	230	0	0	0	1	0	49	230				
MRPL13	28998	broad.mit.edu	37	8	121426282	121426282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121426282G>A	ENST00000306185.3	-	6	754	c.463C>T	c.(463-465)Cta>Tta	p.L155L		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	155					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTCATCTAGACGTTTAGGT	0.328																																						ENST00000306185.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.(463-465)Cta>Tta		mitochondrial ribosomal protein L13							159.0	151.0	154.0					8																	121426282		2203	4300	6503	SO:0001819	synonymous_variant	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121426282G>A	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.463C>T	8.37:g.121426282G>A							p.L155L	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	754	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		155					B2R4R8|Q9UI04	Silent	SNP	ENST00000306185.3	37	c.463C>T	CCDS6332.1																																																																																				0.328	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078		75	306	0	0	0	1	0	75	306				
ACCS	84680	broad.mit.edu	37	11	44105286	44105286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44105286G>T	ENST00000263776.8	+	15	1884	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	484					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CAAATCCCAAGTGGCAGAAGA	0.627																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(1450-1452)Gtg>Ttg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							51.0	48.0	49.0					11																	44105286		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44105286G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1450G>T	11.37:g.44105286G>T	ENSP00000263776:p.Val484Leu						p.V484L	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			15	1884	+			484					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.1450G>T	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	5.760	0.324563	0.10900	.	.	ENSG00000110455	ENST00000263776	T	0.59772	0.24	5.38	1.32	0.21799	.	1.269890	0.05154	N	0.496626	T	0.38506	0.1043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	10	0.28530	T	0.3	-1.5062	5.4491	0.16552	0.2467:0.1441:0.6092:0.0	.	484	Q96QU6	1A1L1_HUMAN	L	484	ENSP00000263776:V484L	ENSP00000263776:V484L	V	+	1	0	ACCS	44061862	0.060000	0.20803	0.000000	0.03702	0.002000	0.02628	0.234000	0.17930	0.052000	0.16007	-0.140000	0.14226	GTG		0.627	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		10	186	1	0	0.0135373	1	0.0136081	10	186				
TAS1R1	80835	broad.mit.edu	37	1	6639462	6639462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6639462G>A	ENST00000333172.6	+	6	2537	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	782					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACGGCCAGCGTCTACGACGG	0.567																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2344-2346)Gtc>Atc		taste receptor, type 1, member 1							126.0	107.0	114.0					1																	6639462		2203	4300	6503	SO:0001583	missense	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639462G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2344G>A	1.37:g.6639462G>A	ENSP00000331867:p.Val782Ile					TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I|TAS1R1_ENST00000328191.4_3'UTR	p.V782I	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2537	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	782					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.2344G>A	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.486|3.486	-0.104955|-0.104955	0.06967|0.06967	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000415267|ENST00000333172;ENST00000351136	.|D;D	.|0.88046	.|-2.33;-2.33	5.18|5.18	1.56|1.56	0.23342|0.23342	.|GPCR, family 3, C-terminal (2);	.|0.658638	.|0.14093	.|N	.|0.341843	T|T	0.73094|0.73094	0.3543|0.3543	L|L	0.35341|0.35341	1.055|1.055	0.22796|0.22796	N|N	0.998728|0.998728	.|P;B	.|0.39862	.|0.692;0.056	.|B;B	.|0.31390	.|0.129;0.022	T|T	0.65541|0.65541	-0.6143|-0.6143	5|10	.|0.52906	.|T	.|0.07	.|.	1.6027|1.6027	0.02678|0.02678	0.4112:0.1318:0.3228:0.1342|0.4112:0.1318:0.3228:0.1342	.|.	.|528;782	.|Q7RTX1-2;Q7RTX1	.|.;TS1R1_HUMAN	H|I	239|782;528	.|ENSP00000331867:V782I;ENSP00000312558:V528I	.|ENSP00000331867:V782I	R|V	+|+	2|1	0|0	TAS1R1|TAS1R1	6562049|6562049	0.000000|0.000000	0.05858|0.05858	0.427000|0.427000	0.26684|0.26684	0.151000|0.151000	0.21798|0.21798	-0.070000|-0.070000	0.11523|0.11523	0.295000|0.295000	0.22570|0.22570	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.567	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			39	361	0	0	0	1	0	39	361				
CP	1356	broad.mit.edu	37	3	148925405	148925405	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148925405C>A	ENST00000264613.6	-	5	1044		c.e5-1			NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTCACAGCTGTAAGTCAA	0.378																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e5-1		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						60.0	59.0	59.0					3																	148925405		2203	4300	6503	SO:0001630	splice_region_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148925405C>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.782-1G>T	3.37:g.148925405C>A								NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1044	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)						Q14063|Q2PP18|Q9UKS4	Splice_Site	SNP	ENST00000264613.6	37		CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115059	0.77210	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CP	150408095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.367000	0.79558	2.866000	0.98385	0.650000	0.86243	.		0.378	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	Intron	42	234	1	0	1.48734e-19	1	1.65976e-19	42	234				
SPEG	10290	broad.mit.edu	37	2	220356957	220356957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220356957C>T	ENST00000312358.7	+	40	9718	c.9586C>T	c.(9586-9588)Cga>Tga	p.R3196*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3196	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R3196*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTTCTTGCGAAAGGTTCT	0.607																																						ENST00000312358.7																			1	Substitution - Nonsense(1)	p.R3196*(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(9586-9588)Cga>Tga		SPEG complex locus							80.0	87.0	85.0					2																	220356957		2052	4177	6229	SO:0001587	stop_gained	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220356957C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9586C>T	2.37:g.220356957C>T	ENSP00000311684:p.Arg3196*					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.R3196*	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	40	9718	+		Renal(207;0.0183)	3196			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Nonsense_Mutation	SNP	ENST00000312358.7	37	c.9586C>T	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.842842|4.842842	0.91197|0.91197	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000412982|ENST00000312358;ENST00000265327	.|.	.|.	.|.	4.44|4.44	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.33401	.|N	.|0.004949	T|.	0.34571|.	0.0902|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	.|.	13.0031|13.0031	0.58687|0.58687	0.1683:0.8317:0.0:0.0|0.1683:0.8317:0.0:0.0	.|.	.|.	.|.	.|.	V|X	43|3196	.|.	.|ENSP00000265327:R3196X	A|R	+|+	2|1	0|2	SPEG|SPEG	220065201|220065201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	2.403000|2.403000	0.44530|0.44530	1.033000|1.033000	0.39918|0.39918	0.467000|0.467000	0.42956|0.42956	GCG|CGA		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		104	293	0	0	0	1	0	104	293				
MOB3A	126308	broad.mit.edu	37	19	2076839	2076839	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2076839G>T	ENST00000357066.3	-	4	974	c.595C>A	c.(595-597)Ctc>Atc	p.L199I	MOB3A_ENST00000592280.1_Missense_Mutation_p.L199I|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	199						intracellular (GO:0005622)	metal ion binding (GO:0046872)										GTGTCGATGAGGCCGAACTCC	0.627																																						ENST00000357066.3																			0											c.(595-597)Ctc>Atc		MOB kinase activator 3A							78.0	67.0	70.0					19																	2076839		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2076839G>T	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.595C>A	19.37:g.2076839G>T	ENSP00000349575:p.Leu199Ile					MOB3A_ENST00000592280.1_Missense_Mutation_p.L199I|MOB3A_ENST00000592143.1_Intron	p.L199I	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			4	974	-			199					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.595C>A	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350545	0.82132	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.5	3.5	0.40072	.	0.000000	0.64402	D	0.000001	T	0.77890	0.4198	M	0.89601	3.045	0.58432	D	0.999996	P	0.39157	0.662	P	0.56216	0.794	T	0.80032	-0.1552	9	0.66056	D	0.02	-53.1518	7.9122	0.29798	0.1187:0.0:0.8813:0.0	.	199	Q96BX8	MOB3A_HUMAN	I	199	.	ENSP00000349575:L199I	L	-	1	0	MOBKL2A	2027839	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.244000	0.72391	1.816000	0.52996	0.491000	0.48974	CTC		0.627	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		43	195	1	0	1.23103e-26	1	1.41986e-26	43	195				
FAM19A5	25817	broad.mit.edu	37	22	49042475	49042475	+	Missense_Mutation	SNP	C	C	T	rs373045207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:49042475C>T	ENST00000402357.1	+	2	312	c.179C>T	c.(178-180)aCg>aTg	p.T60M	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000358295.5_Missense_Mutation_p.T53M	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	60						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CCTCGGAGGACGATCGCCCGG	0.692																																						ENST00000358295.5																			0				large_intestine(1)|lung(6)	7						c.(157-159)aCg>aTg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5		C	MET/THR,MET/THR	0,4160		0,0,2080	25.0	33.0	30.0		179,158	5.2	1.0	22		30	2,8432		0,2,4215	no	missense,missense	FAM19A5	NM_001082967.1,NM_015381.5	81,81	0,2,6295	TT,TC,CC		0.0237,0.0,0.0159	probably-damaging,probably-damaging	60/133,53/126	49042475	2,12592	2080	4217	6297	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042475C>T	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.179C>T	22.37:g.49042475C>T	ENSP00000383933:p.Thr60Met					FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.T60M	p.T53M	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	333	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	60					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.158C>T	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144798	0.77888	0.0	2.37E-4	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.66636	0.2809	L	0.56769	1.78	0.80722	D	1	P;D	0.60160	0.904;0.987	B;P	0.52758	0.226;0.708	T	0.71224	-0.4656	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	53;60	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	M	60;60;53	.	ENSP00000336812:T60M	T	+	2	0	FAM19A5	47428911	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	ACG		0.692	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		31	159	0	0	0	1	0	31	159				
ABCA13	154664	broad.mit.edu	37	7	48556458	48556458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48556458C>T	ENST00000435803.1	+	52	13802	c.13778C>T	c.(13777-13779)gCc>gTc	p.A4593V	ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4593					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGGTTGCTAGCCATCATCTCC	0.448																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13777-13779)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							166.0	163.0	164.0					7																	48556458		1952	4155	6107	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48556458C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13778C>T	7.37:g.48556458C>T	ENSP00000411096:p.Ala4593Val					ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	p.A4593V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			52	13802	+			4593					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13778C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848013	0.71603	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87334	-2.08;-2.24;-2.2	5.35	4.47	0.54385	.	0.000000	0.49305	D	0.000152	D	0.91778	0.7399	M	0.70595	2.14	0.41246	D	0.986678	D;D;D	0.89917	0.992;0.999;1.0	D;D;D	0.91635	0.939;0.982;0.999	D	0.91041	0.4871	10	0.42905	T	0.14	.	11.201	0.48741	0.0:0.9155:0.0:0.0845	.	323;2295;4593	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	V	4593;366;323	ENSP00000411096:A4593V;ENSP00000391042:A366V;ENSP00000442634:A323V	ENSP00000391042:A366V	A	+	2	0	ABCA13	48527004	0.909000	0.30893	0.973000	0.42090	0.979000	0.70002	1.548000	0.36201	1.233000	0.43693	0.655000	0.94253	GCC		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		105	433	0	0	0	1	0	105	433				
OGFOD2	79676	broad.mit.edu	37	12	123463481	123463481	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463481A>C	ENST00000228922.7	+	6	745	c.713A>C	c.(712-714)aAt>aCt	p.N238T	ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|ARL6IP4_ENST00000412505.2_5'Flank|ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.N178T|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	238	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.						iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CACTATGATAATGCCGAGCTC	0.632																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(532-534)aAt>aCt		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						26.0	32.0	30.0					12																	123463481		2034	4167	6201	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463481A>C	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.713A>C	12.37:g.123463481A>C	ENSP00000228922:p.Asn238Thr					OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000228922.7_Missense_Mutation_p.N238T|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR	p.N178T	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	7	1272	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		238					B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.533A>C		.	.	.	.	.	.	.	.	.	.	A	22.4	4.284205	0.80803	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.86366	-2.11;1.02	5.42	5.42	0.78866	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93291	0.6668	10	0.49607	T	0.09	-23.1009	15.4665	0.75406	1.0:0.0:0.0:0.0	.	238;178	Q6N063;Q6N063-2	OGFD2_HUMAN;.	T	178;74;74;74;74;74;74;74;238;74	ENSP00000380544:N178T;ENSP00000228922:N238T	ENSP00000228922:N238T	N	+	2	0	OGFOD2	122029434	1.000000	0.71417	0.194000	0.23346	0.775000	0.43874	9.339000	0.96797	2.054000	0.61138	0.459000	0.35465	AAT		0.632	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		51	198	0	0	0	1	0	51	198				
DNAJC28	54943	broad.mit.edu	37	21	34861515	34861515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34861515G>T	ENST00000314399.3	-	2	624	c.186C>A	c.(184-186)tgC>tgA	p.C62*	DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	62	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CATCTGCAGAGCATCCTTCCT	0.373																																						ENST00000314399.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						c.(184-186)tgC>tgA		DnaJ (Hsp40) homolog, subfamily C, member 28							192.0	181.0	185.0					21																	34861515		2203	4300	6503	SO:0001587	stop_gained	54943						heat shock protein binding	g.chr21:34861515G>T	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.186C>A	21.37:g.34861515G>T	ENSP00000320303:p.Cys62*					DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*	p.C62*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN			2	624	-			62			J.		D3DSF2	Nonsense_Mutation	SNP	ENST00000314399.3	37	c.186C>A	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287351	0.80803	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.39	-1.03	0.10102	.	0.140012	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3122	10.0629	0.42286	0.614:0.0:0.386:0.0	.	.	.	.	X	62	.	ENSP00000320303:C62X	C	-	3	2	DNAJC28	33783385	0.960000	0.32886	0.972000	0.41901	0.377000	0.30045	0.143000	0.16115	-0.079000	0.12707	-0.251000	0.11542	TGC		0.373	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			62	631	1	0	6.75472e-32	1	7.9656e-32	62	631				
AHI1	54806	broad.mit.edu	37	6	135763781	135763781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135763781G>T	ENST00000367800.4	-	12	2067	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	AHI1_ENST00000417892.2_5'UTR|AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000457866.2_Missense_Mutation_p.F617L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	617					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CATTGTGGGAGAAATCAAGAC	0.378																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(1849-1851)ttC>ttA		Abelson helper integration site 1							65.0	61.0	62.0					6																	135763781		1864	4102	5966	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135763781G>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1851C>A	6.37:g.135763781G>T	ENSP00000356774:p.Phe617Leu					AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000417892.2_5'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.F617L	p.F617L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	12	2067	-	Breast(56;0.239)|Colorectal(23;0.24)		617					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.1851C>A	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.356206|4.356206	0.82243|0.82243	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53|.	5.96|5.96	5.1|5.1	0.69264|0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61788|0.61788	0.2375|0.2375	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.997;0.998;0.996|.	T|T	0.63184|0.63184	-0.6694|-0.6694	10|5	0.72032|.	D|.	0.01|.	-10.329|-10.329	14.8195|14.8195	0.70062|0.70062	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	617;617;617|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	L|Y	617|117	ENSP00000356774:F617L;ENSP00000388650:F617L;ENSP00000265602:F617L;ENSP00000322478:F617L|.	ENSP00000265602:F617L|.	F|S	-|-	3|2	2|0	AHI1|AHI1	135805474|135805474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.705000|3.705000	0.54823|0.54823	1.536000|1.536000	0.49237|0.49237	-0.136000|-0.136000	0.14681|0.14681	TTC|TCT		0.378	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		16	50	1	0	2.31682e-05	1	2.36778e-05	16	50				
VPS13A	23230	broad.mit.edu	37	9	79968343	79968343	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79968343G>T	ENST00000360280.3	+	54	7698	c.7438G>T	c.(7438-7440)Gat>Tat	p.D2480Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2480					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						GATGCCTATAGATTTGGGGGA	0.279																																						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.(7438-7440)Gat>Tat		vacuolar protein sorting 13 homolog A (S. cerevisiae)							63.0	65.0	64.0					9																	79968343		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79968343G>T	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.7438G>T	9.37:g.79968343G>T	ENSP00000353422:p.Asp2480Tyr					VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y	p.D2480Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			54	7698	+			2480					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7438G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	6.348	0.432306	0.12045	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.48836	0.96;0.8;0.87;0.96	5.22	-0.24	0.13047	.	0.697544	0.14185	N	0.335709	T	0.28234	0.0697	N	0.24115	0.695	0.26116	N	0.980619	B;B;B;B	0.11235	0.001;0.004;0.001;0.0	B;B;B;B	0.16722	0.016;0.003;0.007;0.007	T	0.15350	-1.0440	10	0.33141	T	0.24	.	5.5173	0.16914	0.3879:0.2722:0.3399:0.0	.	2441;2480;2480;2480	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	2480;2441;2480;2480	ENSP00000365821:D2480Y;ENSP00000365823:D2441Y;ENSP00000353422:D2480Y;ENSP00000349985:D2480Y	ENSP00000349985:D2480Y	D	+	1	0	VPS13A	79158163	0.780000	0.28664	0.317000	0.25265	0.604000	0.37047	1.524000	0.35942	-0.303000	0.08856	-0.274000	0.10170	GAT		0.279	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		30	226	1	0	1.80694e-10	1	1.9163e-10	30	226				
PAPPA	5069	broad.mit.edu	37	9	119158838	119158838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158838G>A	ENST00000328252.3	+	22	5196	c.4827G>A	c.(4825-4827)cgG>cgA	p.R1609R	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Silent_p.R647R|AL137024.1_ENST00000401363.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCTTGTCGGGACCCCCAGG	0.517																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4825-4827)cgG>cgA		pregnancy-associated plasma protein A, pappalysin 1							174.0	158.0	163.0					9																	119158838		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119158838G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4827G>A	9.37:g.119158838G>A						PAPPA_ENST00000534838.1_Silent_p.R647R|PAPPA_ENST00000483254.1_3'UTR	p.R1609R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			22	5196	+			1609					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.4827G>A	CCDS6813.1																																																																																				0.517	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		98	638	0	0	0	1	0	98	638				
FAM161A	84140	broad.mit.edu	37	2	62066556	62066556	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62066556C>A	ENST00000405894.3	-	3	1684	c.1583G>T	c.(1582-1584)aGa>aTa	p.R528I	FAM161A_ENST00000404929.1_Splice_Site_p.R528M	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	528					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTACTTACCTTACGGCTTG	0.463																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e3+1		family with sequence similarity 161, member A							71.0	74.0	73.0					2																	62066556		1960	4152	6112	SO:0001630	splice_region_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62066556C>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1583+1G>T	2.37:g.62066556C>A						FAM161A_ENST00000405894.3_Splice_Site_p.R528_splice	p.R528_splice	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1594	-			528					B4DJV7|Q9H8R2	Splice_Site	SNP	ENST00000405894.3	37	c.1583_splice	CCDS42687.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.119840|4.119840	0.77323|0.77323	.|.	.|.	ENSG00000170264|ENSG00000170264	ENST00000405894|ENST00000404929	T|T	0.25912|0.26067	1.77|1.76	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58524|0.58524	0.2128|0.2128	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	T|T	0.60495|0.60495	-0.7252|-0.7252	9|9	.|.	.|.	.|.	.|.	19.6789|19.6789	0.95950|0.95950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	528|528	Q3B820|Q3B820-3	F161A_HUMAN|.	I|M	528|528	ENSP00000385893:R528I|ENSP00000385158:R528M	.|.	R|R	-|-	2|2	0|0	FAM161A|FAM161A	61920060|61920060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.227000|0.227000	0.25037|0.25037	6.295000|6.295000	0.72744|0.72744	2.736000|2.736000	0.93811|0.93811	0.643000|0.643000	0.83706|0.83706	AGA|AGG		0.463	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	Missense_Mutation	57	275	1	0	5.00936e-31	1	5.8875e-31	57	275				
GABRR3	200959	broad.mit.edu	37	3	97711701	97711701	+	RNA	SNP	C	C	A	rs200418880		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97711701C>A	ENST00000472788.1	-	0	1100					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTACCTTTCCTGTCTTCTTG	0.473																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							225.0	219.0	221.0					3																	97711701		2001	4188	6189			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97711701C>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97711701C>A								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	1100	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.473	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			150	685	1	0	1.60144e-67	1	2.02885e-67	150	685				
SWAP70	23075	broad.mit.edu	37	11	9746232	9746232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9746232G>A	ENST00000318950.6	+	4	545	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	148					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAGCTTACAGAAGCTATGGG	0.303																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(442-444)Gaa>Aaa		SWAP switching B-cell complex 70kDa subunit							62.0	61.0	61.0					11																	9746232		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9746232G>A	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.442G>A	11.37:g.9746232G>A	ENSP00000315630:p.Glu148Lys					SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	p.E148K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	4	545	+			148					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.442G>A	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702741	0.68501	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.11277	2.79;2.79	5.51	5.51	0.81932	.	0.164685	0.64402	D	0.000018	T	0.18341	0.0440	L	0.54323	1.7	0.58432	D	0.999998	P;P;D	0.58268	0.956;0.546;0.982	P;B;P	0.47603	0.453;0.073;0.551	T	0.01124	-1.1444	10	0.28530	T	0.3	-16.6408	19.4051	0.94644	0.0:0.0:1.0:0.0	.	90;148;90	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	K	90;148	ENSP00000399056:E90K;ENSP00000315630:E148K	ENSP00000315630:E148K	E	+	1	0	SWAP70	9702808	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.823000	0.99369	2.586000	0.87340	0.467000	0.42956	GAA		0.303	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		41	205	0	0	0	1	0	41	205				
NCOA1	8648	broad.mit.edu	37	2	24952420	24952420	+	Silent	SNP	G	G	A	rs369260461		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24952420G>A	ENST00000406961.1	+	17	3589	c.2937G>A	c.(2935-2937)acG>acA	p.T979T	NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T|NCOA1_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000405141.1_Silent_p.T979T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	979	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAAGCAACGCCACCTTTGA	0.428			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(2935-2937)acG>acA		nuclear receptor coactivator 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	157.0	140.0	146.0		2937,2937,2937	3.8	1.0	2		146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	979/1442,979/1400,979/1441	24952420	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24952420G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2937G>A	2.37:g.24952420G>A						NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000406961.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T	p.T979T			Q15788	NCOA1_HUMAN			18	3648	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		979			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.2937G>A	CCDS1712.1																																																																																				0.428	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		211	556	0	0	0	1	0	211	556				
OR4X2	119764	broad.mit.edu	37	11	48267073	48267073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267073G>T	ENST00000302329.3	+	1	466	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTAGGAATAGCATGGGTGGG	0.502																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(418-420)Gca>Tca		olfactory receptor, family 4, subfamily X, member 2							224.0	184.0	198.0					11																	48267073		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267073G>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.418G>T	11.37:g.48267073G>T	ENSP00000307751:p.Ala140Ser						p.A140S	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	466	+			140					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.418G>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957308	0.34565	.	.	ENSG00000172208	ENST00000302329	T	0.36520	1.25	5.37	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.23249	0.0562	N	0.02960	-0.455	0.28159	N	0.929083	P	0.51791	0.948	P	0.55222	0.771	T	0.05402	-1.0887	10	0.23302	T	0.38	.	6.8171	0.23837	0.0882:0.0:0.7346:0.1772	.	140	Q8NGF9	OR4X2_HUMAN	S	140	ENSP00000307751:A140S	ENSP00000307751:A140S	A	+	1	0	OR4X2	48223649	0.165000	0.22948	0.039000	0.18376	0.557000	0.35523	1.926000	0.40084	1.212000	0.43366	0.650000	0.86243	GCA		0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		139	559	1	0	7.84169e-52	1	9.74292e-52	139	559				
SLIT3	6586	broad.mit.edu	37	5	168310296	168310296	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168310296G>T	ENST00000519560.1	-	5	878	c.459C>A	c.(457-459)ttC>ttA	p.F153L	SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L|SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	153					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGCCGCGGAACGCCTTCC	0.498																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(457-459)ttC>ttA		slit homolog 3 (Drosophila)							127.0	106.0	113.0					5																	168310296		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168310296G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.459C>A	5.37:g.168310296G>T	ENSP00000430333:p.Phe153Leu					SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L|SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L	p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	878	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	153					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.459C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916738	0.52546	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.64803	-0.12;-0.12;-0.12	4.97	4.1	0.47936	.	0.057875	0.64402	D	0.000002	T	0.66167	0.2762	L	0.41236	1.265	0.51482	D	0.999922	D;D	0.89917	0.99;1.0	D;D	0.91635	0.979;0.999	T	0.63097	-0.6713	10	0.33141	T	0.24	.	6.2219	0.20685	0.3298:0.0:0.6702:0.0	.	153;153	O75094-2;O75094	.;SLIT3_HUMAN	L	153	ENSP00000430333:F153L;ENSP00000332164:F153L;ENSP00000384890:F153L	ENSP00000332164:F153L	F	-	3	2	SLIT3	168242874	1.000000	0.71417	0.995000	0.50966	0.609000	0.37215	3.645000	0.54389	1.081000	0.41110	-0.140000	0.14226	TTC		0.498	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		56	302	1	0	6.20203e-27	1	7.16519e-27	56	302				
IGHV3-33	28434	broad.mit.edu	37	14	106815742	106815742	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106815742C>T	ENST00000390615.2	-	0	410									immunoglobulin heavy variable 3-33																		TAATACACAGCCGTGTCCTCG	0.552																																						ENST00000390615.2																			0																				106.0	168.0	149.0					14																	106815742		1899	4130	6029			0							g.chr14:106815742C>T	L06618		14q32.33	2012-02-10			ENSG00000211955	ENSG00000211955		"""Immunoglobulins / IGH locus"""	5596	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152077		14.37:g.106815742C>T														0	410	-									RNA	SNP	ENST00000390615.2	37																																																																																						0.552	IGHV3-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325171.1	NG_001019		206	427	0	0	0	1	0	206	427				
GRIN2B	2904	broad.mit.edu	37	12	13717545	13717545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13717545G>A	ENST00000609686.1	-	13	2836	c.2627C>T	c.(2626-2628)gCg>gTg	p.A876V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	876					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCTCGATCGCCACCCCATG	0.542																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2626-2628)gCg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						96.0	88.0	91.0					12																	13717545		2199	4294	6493	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717545G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2627C>T	12.37:g.13717545G>A	ENSP00000477455:p.Ala876Val						p.A876V	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2836	-			876					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2627C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311571	0.40895	.	.	ENSG00000150086	ENST00000279593	T	0.11495	2.77	5.3	5.3	0.74995	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.128335	0.56097	D	0.000035	T	0.12817	0.0311	L	0.29908	0.895	0.45634	D	0.998566	P	0.51537	0.946	P	0.45406	0.479	T	0.03795	-1.1003	10	0.36615	T	0.2	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	876	Q13224	NMDE2_HUMAN	V	876	ENSP00000279593:A876V	ENSP00000279593:A876V	A	-	2	0	GRIN2B	13608812	1.000000	0.71417	0.975000	0.42487	0.610000	0.37248	7.068000	0.76748	2.492000	0.84095	0.563000	0.77884	GCG		0.542	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			17	615	0	0	0	1	0	17	615				
PNLDC1	154197	broad.mit.edu	37	6	160225117	160225117	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160225117C>T	ENST00000610273.1	+	5	507	c.336C>T	c.(334-336)aaC>aaT	p.N112N	PNLDC1_ENST00000392167.3_Silent_p.N123N|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	112						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAACTATAACAAGGTATGGC	0.458																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(334-336)aaC>aaT		poly(A)-specific ribonuclease (PARN)-like domain containing 1							128.0	132.0	130.0					6																	160225117		2203	4300	6503	SO:0001819	synonymous_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225117C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.336C>T	6.37:g.160225117C>T						PNLDC1_ENST00000392167.3_Silent_p.N123N	p.N112N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	507	+		Breast(66;0.00519)|Ovarian(120;0.123)	112					Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	37	c.336C>T	CCDS5271.1																																																																																				0.458	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		34	679	0	0	0	1	0	34	679				
TDRD9	122402	broad.mit.edu	37	14	104473017	104473017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104473017G>A	ENST00000409874.4	+	17	1962	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	638					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTTTGCAATGCCTTTCCGGC	0.328																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(1912-1914)atG>atA		tudor domain containing 9							58.0	59.0	58.0					14																	104473017		2203	4299	6502	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104473017G>A	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1914G>A	14.37:g.104473017G>A	ENSP00000387303:p.Met638Ile					TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	p.M638I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			17	1962	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	638					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.1914G>A	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699403|1.699403	0.30142|0.30142	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.02446	.|4.29;4.29	5.48|5.48	4.59|4.59	0.56863|0.56863	.|Helicase-associated domain (2);	.|0.184337	.|0.47093	.|N	.|0.000243	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.14661|0.14661	0.345|0.345	0.46798|0.46798	D|D	0.9992|0.9992	.|B;B	.|0.23058	.|0.079;0.002	.|B;B	.|0.20577	.|0.021;0.03	T|T	0.56798|0.56798	-0.7919|-0.7919	5|10	.|0.34782	.|T	.|0.22	.|.	7.8697|7.8697	0.29558|0.29558	0.1432:0.0:0.7243:0.1325|0.1432:0.0:0.7243:0.1325	.|.	.|638;638	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	T|I	365|638	.|ENSP00000387303:M638I;ENSP00000343545:M638I	.|ENSP00000343545:M638I	A|M	+|+	1|3	0|0	TDRD9|TDRD9	103542770|103542770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	2.605000|2.605000	0.46283|0.46283	1.310000|1.310000	0.45006|0.45006	0.563000|0.563000	0.77884|0.77884	GCC|ATG		0.328	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		23	140	0	0	0	1	0	23	140				
NUP210L	91181	broad.mit.edu	37	1	153998021	153998021	+	Silent	SNP	G	G	A	rs577952223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153998021G>A	ENST00000368559.3	-	30	4190	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V	NUP210L_ENST00000271854.3_Silent_p.V1373V|NUP210L_ENST00000368553.1_Silent_p.V306V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1373					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACTCACCTGGACCCCAGTTA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		15586	0.001		0.0	False		,,,				2504	0.0					ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(4117-4119)gtC>gtT		nucleoporin 210kDa-like							139.0	132.0	134.0					1																	153998021		1825	4081	5906	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153998021G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4119C>T	1.37:g.153998021G>A						NUP210L_ENST00000271854.3_Silent_p.V1373V|NUP210L_ENST00000368553.1_Silent_p.V306V	p.V1373V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		30	4190	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1373					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.4119C>T	CCDS41399.1																																																																																				0.373	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		117	646	0	0	0	1	0	117	646				
VSTM1	284415	broad.mit.edu	37	19	54544318	54544318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544318C>T	ENST00000338372.2	-	9	783	c.608G>A	c.(607-609)gGa>gAa	p.G203E	VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E|VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	203					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATAGGTCACTCCTTGGGGGTC	0.493																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(607-609)gGa>gAa		V-set and transmembrane domain containing 1							40.0	37.0	38.0					19																	54544318		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54544318C>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.608G>A	19.37:g.54544318C>T	ENSP00000343366:p.Gly203Glu					VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E	p.G203E	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	783	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		203					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.608G>A	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	5.636	0.302002	0.10678	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.49720	1.4;7.0;5.9;0.77	2.67	-2.75	0.05914	.	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.22080	0.023;0.064	B;B	0.17433	0.01;0.018	T	0.32348	-0.9910	9	0.02654	T	1	.	6.9053	0.24305	0.0:0.3799:0.0:0.6201	.	172;203	D2DJS4;Q6UX27	.;VSTM1_HUMAN	E	93;203;172;115	ENSP00000409412:G93E;ENSP00000343366:G203E;ENSP00000365813:G172E;ENSP00000444153:G115E	ENSP00000343366:G203E	G	-	2	0	VSTM1	59236130	0.001000	0.12720	0.001000	0.08648	0.449000	0.32228	-1.834000	0.01693	-0.510000	0.06523	0.585000	0.79938	GGA		0.493	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		24	75	0	0	0	1	0	24	75				
ZNF135	7694	broad.mit.edu	37	19	58579766	58579766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579766C>A	ENST00000313434.5	+	5	2015	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E|ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E|ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|ZNF135_ENST00000506786.1_Missense_Mutation_p.D596E|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Intron	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	638					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATGCAGGGACTGTGGAAAGG	0.537																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1786-1788)gaC>gaA		zinc finger protein 135							94.0	83.0	87.0					19																	58579766		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579766C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1914C>A	19.37:g.58579766C>A	ENSP00000321406:p.Asp638Glu					ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E|ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E|ZNF135_ENST00000313434.5_Missense_Mutation_p.D638E	p.D596E			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	2342	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	650					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1788C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.001|0.001	-3.152853|-3.152853	0.00028|0.00028	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000504540;ENST00000391699	T;T;T;T;T|.	0.07327|.	3.2;3.2;3.2;3.2;3.2|.	3.37|3.37	-0.525|-0.525	0.11917|0.11917	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.12263|0.12263	0.0298|0.0298	N|N	0.02674|0.02674	-0.535|-0.535	0.09310|0.09310	N|N	1|1	B;B|.	0.18610|.	0.0;0.029|.	B;B|.	0.21917|.	0.002;0.037|.	T|T	0.31530|0.31530	-0.9940|-0.9940	9|5	0.02654|.	T|.	1|.	.|.	7.2472|7.2472	0.26129|0.26129	0.5826:0.2715:0.1459:0.0|0.5826:0.2715:0.1459:0.0	.|.	650;638|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	E|N	662;638;638;650;596|370;656	ENSP00000441410:D662E;ENSP00000444828:D638E;ENSP00000321406:D638E;ENSP00000422074:D650E;ENSP00000427691:D596E|.	ENSP00000321406:D638E|.	D|T	+|+	3|2	2|0	ZNF135|ZNF135	63271578|63271578	0.000000|0.000000	0.05858|0.05858	0.797000|0.797000	0.32132|0.32132	0.014000|0.014000	0.08584|0.08584	-1.110000|-1.110000	0.03306|0.03306	0.237000|0.237000	0.21200|0.21200	-1.399000|-1.399000	0.01144|0.01144	GAC|ACT		0.537	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		82	320	1	0	1.04643e-32	1	1.23697e-32	82	320				
A1BG	1	broad.mit.edu	37	19	58864788	58864788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864788C>T	ENST00000263100.3	-	1	77	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	6						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAGAAAGACCACGAGCATG	0.667																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(16-18)Gtc>Atc		alpha-1-B glycoprotein							50.0	53.0	52.0					19																	58864788		2202	4300	6502	SO:0001583	missense	1					extracellular region		g.chr19:58864788C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.16G>A	19.37:g.58864788C>T	ENSP00000263100:p.Val6Ile					A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.V6I	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	1	77	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	6					A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.16G>A	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	4.265	0.048324	0.08243	.	.	ENSG00000121410	ENST00000263100	T	0.00534	6.74	3.25	-0.496	0.12027	.	2.038350	0.02702	N	0.111919	T	0.00412	0.0013	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.44159	-0.9346	10	0.22706	T	0.39	.	8.6177	0.33842	0.6089:0.3911:0.0:0.0	.	6	P04217	A1BG_HUMAN	I	6	ENSP00000263100:V6I	ENSP00000263100:V6I	V	-	1	0	A1BG	63556600	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.180000	0.16860	0.002000	0.14630	-0.309000	0.09137	GTC		0.667	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		12	81	0	0	0	1	0	12	81				
IQGAP1	8826	broad.mit.edu	37	15	91017342	91017342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91017342C>T	ENST00000268182.5	+	22	2676	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	851	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACAAAGCTCGGGATGAC	0.433																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2551-2553)gCt>gTt		IQ motif containing GTPase activating protein 1							58.0	57.0	57.0					15																	91017342		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91017342C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2552C>T	15.37:g.91017342C>T	ENSP00000268182:p.Ala851Val					IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	p.A851V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		22	2676	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		851			IQ 4.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.2552C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654607	0.96724	.	.	ENSG00000140575	ENST00000268182	T	0.02498	4.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	M	0.80616	2.505	0.80722	D	1	D	0.59767	0.986	P	0.59012	0.85	T	0.00127	-1.2019	10	0.46703	T	0.11	-14.4008	18.7225	0.91700	0.0:1.0:0.0:0.0	.	851	P46940	IQGA1_HUMAN	V	851	ENSP00000268182:A851V	ENSP00000268182:A851V	A	+	2	0	IQGAP1	88818346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.746000	0.94184	0.655000	0.94253	GCT		0.433	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		43	197	0	0	0	1	0	43	197				
UPB1	51733	broad.mit.edu	37	22	24898122	24898122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24898122C>A	ENST00000326010.5	+	3	649	c.305C>A	c.(304-306)gCt>gAt	p.A102D	UPB1_ENST00000382760.2_Missense_Mutation_p.A102D|UPB1_ENST00000413389.2_Missense_Mutation_p.A34D	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	102	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CGCATAAAGGCTATCGTAGAG	0.408																																						ENST00000413389.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(100-102)gCt>gAt		ureidopropionase, beta							252.0	217.0	229.0					22																	24898122		2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24898122C>A	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.305C>A	22.37:g.24898122C>A	ENSP00000324343:p.Ala102Asp					UPB1_ENST00000382760.2_Missense_Mutation_p.A102D|UPB1_ENST00000326010.5_Missense_Mutation_p.A102D	p.A34D			Q9UBR1	BUP1_HUMAN			3	1694	+	Colorectal(2;0.0339)		102					A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.101C>A	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	2.597	-0.293848	0.05568	.	.	ENSG00000100024	ENST00000413389;ENST00000326010;ENST00000382760;ENST00000426507	D;D;D	0.86865	-2.18;-2.18;-1.67	5.06	1.42	0.22433	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.167322	0.52532	D	0.000072	T	0.69415	0.3108	N	0.10972	0.075	0.29193	N	0.875738	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.55829	-0.8079	10	0.15499	T	0.54	-12.8567	7.4629	0.27306	0.5662:0.312:0.1217:0.0	.	102;34	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	D	34;102;102;102	ENSP00000406057:A34D;ENSP00000324343:A102D;ENSP00000372208:A102D	ENSP00000324343:A102D	A	+	2	0	UPB1	23228122	1.000000	0.71417	0.111000	0.21465	0.074000	0.17049	3.355000	0.52262	0.470000	0.27294	0.650000	0.86243	GCT		0.408	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			30	745	1	0	4.3181e-19	1	4.80867e-19	30	745				
TYMS	7298	broad.mit.edu	37	18	670816	670816	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:670816C>T	ENST00000323274.10	+	5	820	c.681C>T	c.(679-681)atC>atT	p.I227I	TYMS_ENST00000323250.5_Silent_p.I144I|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.I193I	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	227					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.I227I(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	CTTTCAACATCGCCAGCTACG	0.587																																						ENST00000323274.10																			1	Substitution - coding silent(1)	p.I227I(1)	endometrium(1)	endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(679-681)atC>atT		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						165.0	128.0	140.0					18																	670816		2203	4300	6503	SO:0001819	synonymous_variant	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:670816C>T	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.681C>T	18.37:g.670816C>T						TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.I193I|TYMS_ENST00000323250.5_Silent_p.I144I	p.I227I	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			5	820	+			227					Q8WYK3|Q8WYK4	Silent	SNP	ENST00000323274.10	37	c.681C>T	CCDS11821.1																																																																																				0.587	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		94	460	0	0	0	1	0	94	460				
PGM5	5239	broad.mit.edu	37	9	71098868	71098868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71098868C>T	ENST00000396396.1	+	9	1612	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	461					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTTCATTGGCCAGCAGTTTG	0.517																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1381-1383)ggC>ggT		phosphoglucomutase 5							136.0	116.0	123.0					9																	71098868		2203	4300	6503	SO:0001819	synonymous_variant	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098868C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1383C>T	9.37:g.71098868C>T							p.G461G	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			9	1612	+			461					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	c.1383C>T	CCDS6622.2																																																																																				0.517	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		71	361	0	0	0	1	0	71	361				
PAAF1	80227	broad.mit.edu	37	11	73630036	73630036	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73630036T>C	ENST00000310571.3	+	10	1030	c.977T>C	c.(976-978)cTa>cCa	p.L326P	PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P|PAAF1_ENST00000544909.1_Missense_Mutation_p.L327P|PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	326					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GCACCAGTTCTATCCCTGCTA	0.428																																						ENST00000544909.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(979-981)cTa>cCa		proteasomal ATPase-associated factor 1							130.0	120.0	123.0					11																	73630036		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73630036T>C	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.977T>C	11.37:g.73630036T>C	ENSP00000311665:p.Leu326Pro					PAAF1_ENST00000310571.3_Missense_Mutation_p.L326P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P|PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P|PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P	p.L327P			Q9BRP4	PAAF1_HUMAN			8	1237	+	Breast(11;7.42e-05)		326					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.980T>C	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184042	0.57800	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.292711	0.23265	N	0.050091	T	0.37100	0.0991	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.971;0.994	P;P	0.55713	0.753;0.782	T	0.11567	-1.0582	10	0.36615	T	0.2	-3.0581	13.0093	0.58722	0.0:0.0:0.0:1.0	.	309;326	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	P	211;326;211;309;309;309;327	ENSP00000441333:L211P;ENSP00000311665:L326P;ENSP00000438789:L211P;ENSP00000438124:L309P;ENSP00000441494:L309P;ENSP00000365564:L309P;ENSP00000438071:L327P	ENSP00000311665:L326P	L	+	2	0	PAAF1	73307684	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	3.498000	0.53302	1.949000	0.56562	0.533000	0.62120	CTA		0.428	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		44	156	0	0	0	1	0	44	156				
AHCTF1	25909	broad.mit.edu	37	1	247014214	247014214	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247014214A>C	ENST00000391829.2	-	33	5217	c.5094T>G	c.(5092-5094)ccT>ccG	p.P1698P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.P1733P|AHCTF1_ENST00000326225.3_Silent_p.P1707P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1698	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGCTCACTAAAGGTATTGTTT	0.348																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5197-5199)ccT>ccG		AT hook containing transcription factor 1							84.0	83.0	83.0					1																	247014214		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014214A>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5094T>G	1.37:g.247014214A>C						AHCTF1_ENST00000391829.2_Silent_p.P1698P|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.P1707P	p.P1733P			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5335	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1698			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.5199T>G																																																																																					0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		15	456	0	0	0	1	0	15	456				
SLC4A5	57835	broad.mit.edu	37	2	74491387	74491387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491387C>T	ENST00000377634.4	-	10	1001	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R201Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R201Q|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGCTCTGGCCGCAGGAGACC	0.547																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(601-603)cGg>cAg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							135.0	121.0	126.0					2																	74491387		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491387C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.602G>A	2.37:g.74491387C>T	ENSP00000366861:p.Arg201Gln					SLC4A5_ENST00000423644.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R137Q|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R201Q	p.R201Q	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	999	-			201						Missense_Mutation	SNP	ENST00000377634.4	37	c.602G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817884	0.32145	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.72	3.83	0.44106	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.504521	0.21862	N	0.068009	T	0.64294	0.2585	N	0.25286	0.73	0.09310	N	1	B;P;B;P;B	0.39520	0.054;0.676;0.184;0.529;0.287	B;B;B;B;B	0.37047	0.04;0.24;0.103;0.131;0.13	T	0.57219	-0.7849	10	0.39692	T	0.17	.	6.4309	0.21796	0.0:0.8083:0.0:0.1917	.	201;201;137;201;201	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	Q	201;201;201;137;201;137;201;201;201;201;85	ENSP00000377587:R201Q;ENSP00000251768:R201Q;ENSP00000352461:R137Q;ENSP00000395804:R201Q;ENSP00000351513:R137Q;ENSP00000350475:R201Q;ENSP00000366859:R201Q;ENSP00000366861:R201Q;ENSP00000405678:R201Q;ENSP00000414162:R85Q	ENSP00000251768:R201Q	R	-	2	0	SLC4A5	74344895	0.974000	0.33945	0.952000	0.39060	0.336000	0.28762	3.325000	0.52030	2.589000	0.87451	0.655000	0.94253	CGG		0.547	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			43	261	0	0	0	1	0	43	261				
USPL1	10208	broad.mit.edu	37	13	31205600	31205600	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31205600G>T	ENST00000255304.4	+	4	1199	c.857G>T	c.(856-858)aGt>aTt	p.S286I	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	286	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGTCAATTGAGTGGTGTTAAA	0.388																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(856-858)aGt>aTt		ubiquitin specific peptidase like 1							52.0	54.0	53.0					13																	31205600		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31205600G>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.857G>T	13.37:g.31205600G>T	ENSP00000255304:p.Ser286Ile					USPL1_ENST00000465952.1_3'UTR	p.S286I	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	4	1199	+		Lung SC(185;0.0257)|Breast(139;0.203)	286					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.857G>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	5.836	0.338550	0.11069	.	.	ENSG00000132952	ENST00000255304	T	0.45668	0.89	5.94	2.09	0.27110	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.861583	0.10458	N	0.672337	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	P	0.38420	0.63	B	0.37198	0.243	T	0.12066	-1.0562	10	0.66056	D	0.02	-7.2908	4.059	0.09829	0.4979:0.1821:0.3201:0.0	.	286	Q5W0Q7	USPL1_HUMAN	I	286	ENSP00000255304:S286I	ENSP00000255304:S286I	S	+	2	0	USPL1	30103600	0.017000	0.18338	0.007000	0.13788	0.016000	0.09150	0.586000	0.23894	0.517000	0.28361	-0.367000	0.07326	AGT		0.388	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		59	357	1	0	1.73933e-33	1	2.06204e-33	59	357				
PCDH9	5101	broad.mit.edu	37	13	67801996	67801996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67801996C>T	ENST00000377865.2	-	1	711	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M|PCDH9_ENST00000544246.1_Missense_Mutation_p.V193M			Q9HC56	PCDH9_HUMAN	protocadherin 9	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTTTCCACGATATCCAGT	0.423																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(577-579)Gtg>Atg		protocadherin 9							135.0	136.0	136.0					13																	67801996		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801996C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.577G>A	13.37:g.67801996C>T	ENSP00000367096:p.Val193Met					PCDH9_ENST00000377865.2_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M|PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M	p.V193M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1268	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	193			Cadherin 2.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.577G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470820	0.43942	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	L	0.39467	1.215	0.58432	D	0.999999	D;D;D;D	0.76494	0.997;0.999;0.998;0.999	P;D;D;D	0.66847	0.887;0.928;0.912;0.947	T	0.67749	-0.5590	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	193;193;193;193	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	193	ENSP00000442186:V193M;ENSP00000367096:V193M;ENSP00000401699:V193M;ENSP00000332060:V193M;ENSP00000367092:V193M	ENSP00000332060:V193M	V	-	1	0	PCDH9	66699997	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	GTG		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		153	624	0	0	0	1	0	153	624				
RBM11	54033	broad.mit.edu	37	21	15592002	15592002	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15592002G>T	ENST00000400577.3	+	2	224	c.215G>T	c.(214-216)gGa>gTa	p.G72V	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	72	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTGCTGAATGGAATTCGTTTA	0.393																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(214-216)gGa>gTa		RNA binding motif protein 11							99.0	90.0	93.0					21																	15592002		1568	3582	5150	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15592002G>T	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.215G>T	21.37:g.15592002G>T	ENSP00000383421:p.Gly72Val					RBM11_ENST00000468643.1_3'UTR	p.G72V	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	2	224	+			72			RRM.		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.215G>T	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467415	0.84533	.	.	ENSG00000185272	ENST00000400577	D	0.82255	-1.59	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000016	D	0.94716	0.8295	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96230	0.9167	10	0.72032	D	0.01	-19.4528	18.9174	0.92512	0.0:0.0:1.0:0.0	.	72	P57052	RBM11_HUMAN	V	72	ENSP00000383421:G72V	ENSP00000383421:G72V	G	+	2	0	RBM11	14513873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.000000	0.70678	2.661000	0.90470	0.655000	0.94253	GGA		0.393	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		22	135	1	0	7.41877e-09	1	7.77385e-09	22	135				
RASGEF1A	221002	broad.mit.edu	37	10	43694616	43694616	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43694616G>A	ENST00000395809.1	-	8	3382	c.876C>T	c.(874-876)cgC>cgT	p.R292R	RASGEF1A_ENST00000395810.1_Silent_p.R292R|RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000374459.1_Silent_p.R300R			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	292	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACTCCAACATGCGGGTCCGGT	0.607																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(874-876)cgC>cgT		RasGEF domain family, member 1A							65.0	57.0	59.0					10																	43694616		2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43694616G>A	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.876C>T	10.37:g.43694616G>A						RASGEF1A_ENST00000374459.1_Silent_p.R300R|RASGEF1A_ENST00000395810.1_Silent_p.R292R	p.R292R			Q8N9B8	RGF1A_HUMAN			8	3382	-			292			Ras-GEF.		Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.876C>T	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435865	0.25813	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.45	-2.48	0.06423	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	.	3.3471	0.07139	0.0784:0.2701:0.2189:0.4325	.	.	.	.	Y	194	.	.	H	-	1	0	RASGEF1A	43014622	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	1.945000	0.40273	-0.255000	0.09486	-0.176000	0.13171	CAT		0.607	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		25	89	0	0	0	1	0	25	89				
CHRM2	1129	broad.mit.edu	37	7	136700546	136700546	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700546C>A	ENST00000445907.2	+	3	1462	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTCCACTTCCCTGGGCCATTC	0.463																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(934-936)Ctg>Atg		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						90.0	92.0	91.0					7																	136700546		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700546C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.934C>A	7.37:g.136700546C>A	ENSP00000399745:p.Leu312Met					CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|AC009264.1_ENST00000597642.1_RNA	p.L312M	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1462	+			312					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.934C>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	7.757	0.704479	0.15172	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.4	0.492	0.16872	GPCR, rhodopsin-like superfamily (1);	0.571088	0.16953	N	0.192800	T	0.48021	0.1477	N	0.24115	0.695	0.23144	N	0.998226	P	0.38195	0.622	P	0.44359	0.447	T	0.37619	-0.9698	10	0.41790	T	0.15	-4.2629	5.6681	0.17707	0.0:0.5294:0.1257:0.3449	.	312	P08172	ACM2_HUMAN	M	312	ENSP00000399745:L312M;ENSP00000415386:L312M;ENSP00000319984:L312M;ENSP00000380733:L312M;ENSP00000384937:L312M;ENSP00000384401:L312M	ENSP00000319984:L312M	L	+	1	2	CHRM2	136351086	0.410000	0.25376	0.958000	0.39756	0.990000	0.78478	0.015000	0.13355	-0.191000	0.10448	0.655000	0.94253	CTG		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			72	329	1	0	2.23399e-28	1	2.59905e-28	72	329				
DUSP16	80824	broad.mit.edu	37	12	12630240	12630240	+	Missense_Mutation	SNP	C	C	T	rs149400013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12630240C>T	ENST00000228862.2	-	7	2156	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	509					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V509M(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGTCCTCCACGCTCCCACTT	0.587													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		19718	0.0		0.0	False		,,,				2504	0.0				Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			1	Substitution - Missense(1)	p.V509M(1)	endometrium(1)	endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1525-1527)Gtg>Atg		dual specificity phosphatase 16		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	59.0	58.0	58.0		1525	4.3	1.0	12	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DUSP16	NM_030640.2	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	509/666	12630240	2,13004	2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630240C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1525G>A	12.37:g.12630240C>T	ENSP00000228862:p.Val509Met					DUSP16_ENST00000298573.4_3'UTR	p.V509M	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	2156	-		Prostate(47;0.0687)	509					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1525G>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789841	0.16258	2.27E-4	1.16E-4	ENSG00000111266	ENST00000228862	T	0.01963	4.53	5.21	4.32	0.51571	.	0.462115	0.19659	N	0.109008	T	0.01661	0.0053	L	0.31065	0.9	0.80722	D	1	P;P	0.36315	0.487;0.547	B;B	0.18263	0.015;0.021	T	0.64711	-0.6343	10	0.37606	T	0.19	.	8.5603	0.33507	0.0:0.7711:0.0:0.2289	.	509;509	Q9BY84;Q96N49	DUS16_HUMAN;.	M	509	ENSP00000228862:V509M	ENSP00000228862:V509M	V	-	1	0	DUSP16	12521507	0.380000	0.25131	0.982000	0.44146	0.714000	0.41099	0.323000	0.19593	1.423000	0.47198	0.655000	0.94253	GTG		0.587	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		78	383	0	0	0	1	0	78	383				
TRRAP	8295	broad.mit.edu	37	7	98535441	98535441	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535441A>G	ENST00000359863.4	+	30	4611	c.4402A>G	c.(4402-4404)Atg>Gtg	p.M1468V	TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V|TRRAP_ENST00000446306.3_Missense_Mutation_p.M1467V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1468					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGATCAGATGATGGTAAGCCA	0.393																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4402-4404)Atg>Gtg		transformation/transcription domain-associated protein							47.0	39.0	42.0					7																	98535441		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98535441A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4402A>G	7.37:g.98535441A>G	ENSP00000352925:p.Met1468Val					TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V|TRRAP_ENST00000446306.3_Missense_Mutation_p.M1467V	p.M1468V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		30	4611	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1468					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4402A>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.10|18.10	3.547699|3.547699	0.65311|0.65311	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.63417|.	-0.04;-0.04|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56804|.	0.2010|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26775|.	0.159;0.065;0.122|.	B;B;B|.	0.23018|.	0.043;0.016;0.029|.	T|.	0.52533|.	-0.8563|.	10|.	0.87932|.	D|.	0|.	.|.	16.6438|16.6438	0.85155|0.85155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1468;1182;1468|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1468;1468;1466|1182	ENSP00000352925:M1468V;ENSP00000347733:M1468V|.	ENSP00000347733:M1468V|.	M|X	+|+	1|3	0|0	TRRAP|TRRAP	98373377|98373377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.224000|9.224000	0.95209|0.95209	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		41	155	0	0	0	1	0	41	155				
NKX2-2	4821	broad.mit.edu	37	20	21494152	21494152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21494152G>A	ENST00000377142.4	-	1	512	c.156C>T	c.(154-156)gcC>gcT	p.A52A	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	52					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCGTCCAGGGCGCCCTGCC	0.687																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(154-156)gcC>gcT		NK2 homeobox 2							34.0	31.0	32.0					20																	21494152		2201	4299	6500	SO:0001819	synonymous_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21494152G>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.156C>T	20.37:g.21494152G>A							p.A52A	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			1	512	-			52						Silent	SNP	ENST00000377142.4	37	c.156C>T	CCDS13145.1																																																																																				0.687	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			48	165	0	0	0	1	0	48	165				
THBS2	7058	broad.mit.edu	37	6	169632164	169632164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632164C>T	ENST00000366787.3	-	14	2311	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	688	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGATGAGCCCGTCGCCCGCG	0.637																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2062-2064)Ggg>Agg		thrombospondin 2							137.0	114.0	122.0					6																	169632164		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632164C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2062G>A	6.37:g.169632164C>T	ENSP00000355751:p.Gly688Arg					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G688R	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2311	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	688			EGF-like 3.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2062G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875947	0.91664	.	.	ENSG00000186340	ENST00000366787	D	0.99909	-7.85	4.15	4.15	0.48705	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41605	U	0.000848	D	0.99951	0.9979	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95721	0.8766	10	0.87932	D	0	-35.7145	16.7836	0.85568	0.0:1.0:0.0:0.0	.	688	P35442	TSP2_HUMAN	R	688	ENSP00000355751:G688R	ENSP00000355751:G688R	G	-	1	0	THBS2	169374089	1.000000	0.71417	0.992000	0.48379	0.926000	0.56050	7.304000	0.78882	2.016000	0.59253	0.297000	0.19635	GGG		0.637	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		87	393	0	0	0	1	0	87	393				
C9orf41	138199	broad.mit.edu	37	9	77613623	77613623	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77613623A>G	ENST00000376834.3	-	5	953	c.801T>C	c.(799-801)gcT>gcC	p.A267A	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	267										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAATCTGATCAGCTGATCTCC	0.363																																						ENST00000376834.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(799-801)gcT>gcC		chromosome 9 open reading frame 41							69.0	75.0	73.0					9																	77613623		2203	4299	6502	SO:0001819	synonymous_variant	138199							g.chr9:77613623A>G	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.801T>C	9.37:g.77613623A>G						C9orf41_ENST00000376837.3_3'UTR	p.A267A	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN			5	953	-			267					Q7Z383|Q8N7C5	Silent	SNP	ENST00000376834.3	37	c.801T>C	CCDS6649.1																																																																																				0.363	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		41	248	0	0	0	1	0	41	248				
ABCB11	8647	broad.mit.edu	37	2	169792891	169792891	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169792891A>G	ENST00000263817.6	-	22	2787	c.2663T>C	c.(2662-2664)gTg>gCg	p.V888A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	888	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GATCATGGCCACAGTGACGTT	0.502																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2662-2664)gTg>gCg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						136.0	133.0	134.0					2																	169792891		2046	4201	6247	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169792891A>G	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2663T>C	2.37:g.169792891A>G	ENSP00000263817:p.Val888Ala						p.V888A	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			22	2787	-			888			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2663T>C	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217062	0.39201	.	.	ENSG00000073734	ENST00000263817	D	0.88975	-2.45	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	N	0.04297	-0.235	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.20955	0.032;0.032	T	0.72171	-0.4371	10	0.12430	T	0.62	.	15.6231	0.76824	1.0:0.0:0.0:0.0	.	330;888	B4DZQ8;O95342	.;ABCBB_HUMAN	A	888	ENSP00000263817:V888A	ENSP00000263817:V888A	V	-	2	0	ABCB11	169501137	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.734000	0.47368	2.096000	0.63516	0.459000	0.35465	GTG		0.502	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		97	299	0	0	0	1	0	97	299				
ANKRD24	170961	broad.mit.edu	37	19	4216663	4216663	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4216663G>T	ENST00000600132.1	+	18	1782	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q502H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q592H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	502										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TACGCAGGCAGCACGCTGAGG	0.622																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(1504-1506)caG>caT		ankyrin repeat domain 24							26.0	27.0	27.0					19																	4216663		2032	4177	6209	SO:0001583	missense	170961							g.chr19:4216663G>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1506G>T	19.37:g.4216663G>T	ENSP00000471252:p.Gln502His					ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q502H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q592H	p.Q502H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	1782	+			502					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.1506G>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.944226	0.53079	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.38560	1.13;1.16	4.6	2.39	0.29439	.	0.549841	0.13688	N	0.369707	T	0.36744	0.0978	L	0.27053	0.805	0.27072	N	0.963292	D;B	0.56968	0.978;0.392	P;B	0.52267	0.694;0.091	T	0.13845	-1.0494	10	0.27082	T	0.32	-15.3871	8.5402	0.33388	0.1894:0.0:0.8106:0.0	.	502;592	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	H	502;592	ENSP00000321731:Q502H;ENSP00000262970:Q592H	ENSP00000262970:Q592H	Q	+	3	2	ANKRD24	4167663	0.998000	0.40836	0.967000	0.41034	0.887000	0.51463	1.040000	0.30278	0.471000	0.27319	0.313000	0.20887	CAG		0.622	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		11	51	1	0	2.27111e-07	1	2.35674e-07	11	51				
B4GALT7	11285	broad.mit.edu	37	5	177034312	177034312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177034312G>A	ENST00000029410.5	+	3	534	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	141	UDP-alpha-D-galactose binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTCAACCGGGCAGCGCTCA	0.647											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000029410.5																			0				endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7						c.(421-423)cgG>cgA		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7							60.0	47.0	51.0					5																	177034312		2203	4300	6503	SO:0001819	synonymous_variant	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177034312G>A	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.423G>A	5.37:g.177034312G>A			OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1935		p.R141R	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	534	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	141					B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	c.423G>A	CCDS4429.1																																																																																				0.647	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		18	61	0	0	0	1	0	18	61				
AKAP13	11214	broad.mit.edu	37	15	86225399	86225399	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86225399C>A	ENST00000394518.2	+	15	5207	c.5112C>A	c.(5110-5112)ccC>ccA	p.P1704P	AKAP13_ENST00000361243.2_Silent_p.P1708P|AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1704					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATTCACGGCCCTTCCACAGTA	0.333																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(5110-5112)ccC>ccA		A kinase (PRKA) anchor protein 13							110.0	102.0	105.0					15																	86225399		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86225399C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5112C>A	15.37:g.86225399C>A						AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.P1708P|AKAP13_ENST00000394510.2_5'UTR	p.P1704P	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			15	5207	+			1704					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5112C>A	CCDS32319.1																																																																																				0.333	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		8	289	1	0	2.17888e-05	1	2.22852e-05	8	289				
MUC16	94025	broad.mit.edu	37	19	9085546	9085546	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085546A>C	ENST00000397910.4	-	1	6472	c.6269T>G	c.(6268-6270)tTt>tGt	p.F2090C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2090	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGAGTGGAAATTCAGTCGT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6268-6270)tTt>tGt		mucin 16, cell surface associated							169.0	163.0	165.0					19																	9085546		1909	4128	6037	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085546A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6269T>G	19.37:g.9085546A>C	ENSP00000381008:p.Phe2090Cys						p.F2090C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6472	-			2090			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6269T>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.555	-0.847763	0.02651	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.235	0.235	0.15431	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	.	.	.	D	0.67145	0.996	D	0.65773	0.938	T	0.45338	-0.9268	7	0.87932	D	0	.	.	.	.	.	2090	B5ME49	.	C	2090	ENSP00000381008:F2090C	ENSP00000381008:F2090C	F	-	2	0	MUC16	8946546	0.009000	0.17119	0.102000	0.21198	0.102000	0.19082	0.745000	0.26259	0.263000	0.21812	0.260000	0.18958	TTT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		168	724	0	0	0	1	0	168	724				
UBXN2B	137886	broad.mit.edu	37	8	59360082	59360082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59360082A>G	ENST00000399598.2	+	8	1090	c.968A>G	c.(967-969)aAc>aGc	p.N323S		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	323	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GATATTCTTAACACTGTGTTA	0.393																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(967-969)aAc>aGc		UBX domain protein 2B							73.0	63.0	66.0					8																	59360082		1861	4108	5969	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59360082A>G	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.968A>G	8.37:g.59360082A>G	ENSP00000382507:p.Asn323Ser						p.N323S	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			8	1090	+			323			UBX.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.968A>G	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812865	0.90707	.	.	ENSG00000215114	ENST00000399598	T	0.48522	0.81	6.08	6.08	0.98989	UBX (3);	0.000000	0.48767	U	0.000180	T	0.68458	0.3003	M	0.76574	2.34	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	T	0.70757	-0.4785	10	0.56958	D	0.05	-24.3636	15.2149	0.73258	1.0:0.0:0.0:0.0	.	323	Q14CS0	UBX2B_HUMAN	S	323	ENSP00000382507:N323S	ENSP00000382507:N323S	N	+	2	0	UBXN2B	59522636	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.304000	0.89958	2.333000	0.79357	0.533000	0.62120	AAC		0.393	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		54	246	0	0	0	1	0	54	246				
KLKB1	3818	broad.mit.edu	37	4	187178451	187178451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187178451C>T	ENST00000264690.6	+	14	1844	c.1657C>T	c.(1657-1659)Caa>Taa	p.Q553*	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	553	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GAAAAGATATCAAGATTATAA	0.343																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1657-1659)Caa>Taa		kallikrein B, plasma (Fletcher factor) 1							84.0	97.0	93.0					4																	187178451		2201	4298	6499	SO:0001587	stop_gained	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187178451C>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1657C>T	4.37:g.187178451C>T	ENSP00000264690:p.Gln553*					KLKB1_ENST00000513864.1_Intron	p.Q553*	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	14	1844	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	553			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Nonsense_Mutation	SNP	ENST00000264690.6	37	c.1657C>T	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429760	0.43122	.	.	ENSG00000164344	ENST00000264690	.	.	.	5.97	-5.56	0.02529	.	0.771417	0.12142	N	0.495758	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.4025	0.21646	0.1991:0.5394:0.1817:0.0798	.	.	.	.	X	553	.	ENSP00000264690:Q553X	Q	+	1	0	KLKB1	187415445	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	0.460000	0.21924	-0.347000	0.08299	-1.112000	0.02068	CAA		0.343	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		76	334	0	0	0	1	0	76	334				
VPS11	55823	broad.mit.edu	37	11	118949921	118949921	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118949921C>T	ENST00000300793.6	+	15	2388	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	783					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGAAACAGAGCCAGCAGATTG	0.602																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2344-2346)agC>agT		vacuolar protein sorting 11 homolog (S. cerevisiae)							36.0	39.0	38.0					11																	118949921		2088	4223	6311	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949921C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2346C>T	11.37:g.118949921C>T						VPS11_ENST00000527798.1_3'UTR	p.S782S	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2388	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	783					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.2346C>T																																																																																					0.602	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		24	97	0	0	0	1	0	24	97				
TMEM125	128218	broad.mit.edu	37	1	43738921	43738921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43738921C>A	ENST00000432792.2	+	4	1098	c.528C>A	c.(526-528)tgC>tgA	p.C176*	TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*			Q96AQ2	TM125_HUMAN	transmembrane protein 125	176						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGGACACTGCCCCTCCATCT	0.632																																						ENST00000432792.2																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(526-528)tgC>tgA		transmembrane protein 125							55.0	44.0	48.0					1																	43738921		2203	4300	6503	SO:0001587	stop_gained	128218					integral to membrane		g.chr1:43738921C>A	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.528C>A	1.37:g.43738921C>A	ENSP00000429275:p.Cys176*					TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*	p.C176*			Q96AQ2	TM125_HUMAN			4	1098	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	176					D3DPX1	Nonsense_Mutation	SNP	ENST00000432792.2	37	c.528C>A	CCDS480.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155432	0.94686	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	.	.	.	5.18	2.29	0.28610	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4935	0.16789	0.0:0.5731:0.1329:0.294	.	.	.	.	X	176	.	ENSP00000429275:C176X	C	+	3	2	TMEM125	43511508	0.005000	0.15991	0.844000	0.33320	0.131000	0.20780	-0.199000	0.09491	0.205000	0.20568	0.563000	0.77884	TGC		0.632	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		14	169	1	0	3.27435e-08	1	3.41456e-08	14	169				
RNF112	7732	broad.mit.edu	37	17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A	rs377607213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19318461G>A	ENST00000461366.1	+	11	1452	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	413						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGAGGGGCGCGCCGTGGCCAG	0.662																																						ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(1237-1239)Gcc>Acc		ring finger protein 112		G	THR/ALA	1,3899		0,1,1949	26.0	31.0	29.0		1237	-3.5	0.5	17		29	0,8286		0,0,4143	no	missense	RNF112	NM_007148.4	58	0,1,6092	AA,AG,GG		0.0,0.0256,0.0082	benign	413/632	19318461	1,12185	1950	4143	6093	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19318461G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1237G>A	17.37:g.19318461G>A	ENSP00000454919:p.Ala413Thr						p.A413T	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			11	1452	+			413					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.1237G>A	CCDS58529.1																																																																																				0.662	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		77	282	0	0	0	1	0	77	282				
MTHFR	4524	broad.mit.edu	37	1	11863151	11863151	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11863151T>C	ENST00000376592.1	-	1	151	c.23A>G	c.(22-24)aAc>aGc	p.N8S	MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S|MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	8					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GAGGCTGCTGTTTCCTCTGGC	0.632																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(22-24)aAc>aGc		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						68.0	51.0	57.0					1																	11863151		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11863151T>C	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.23A>G	1.37:g.11863151T>C	ENSP00000365777:p.Asn8Ser					MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S|MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S	p.N8S			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	1	151	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	8					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.23A>G	CCDS137.1	.	.	.	.	.	.	.	.	.	.	T	2.368	-0.344945	0.05208	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034;ENST00000413656;ENST00000423400;ENST00000431243;ENST00000376486	T;T;T;T;T	0.81163	-1.45;-1.46;-1.45;-1.46;-1.28	4.65	-5.71	0.02413	.	0.791526	0.11932	N	0.515610	T	0.40546	0.1121	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44267	-0.9339	10	0.87932	D	0	.	4.1016	0.10015	0.0988:0.4522:0.2167:0.2323	.	8;49	P42898;Q5SNW6	MTHR_HUMAN;.	S	8;49;8;49;8;8;31;8;8	ENSP00000365777:N8S;ENSP00000365767:N49S;ENSP00000365775:N8S;ENSP00000365770:N49S;ENSP00000405082:N8S	ENSP00000365669:N8S	N	-	2	0	MTHFR	11785738	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.301000	0.08232	-1.019000	0.03358	-1.295000	0.01343	AAC		0.632	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		9	62	0	0	0	1	0	9	62				
MAST4	375449	broad.mit.edu	37	5	66460375	66460375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66460375C>T	ENST00000403625.2	+	29	5663	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	MAST4_ENST00000403666.1_Silent_p.L1601L|MAST4_ENST00000404260.3_Silent_p.L1793L|MAST4_ENST00000405643.1_Silent_p.L1611L|MAST4_ENST00000261569.7_Silent_p.L1596L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1793						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGAGTATAAGCTGGAAGGTAG	0.592																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5377-5379)Ctg>Ttg		microtubule associated serine/threonine kinase family member 4							96.0	101.0	99.0					5																	66460375		1911	4132	6043	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460375C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5368C>T	5.37:g.66460375C>T						MAST4_ENST00000405643.1_Silent_p.L1611L|MAST4_ENST00000403625.2_Silent_p.L1790L|MAST4_ENST00000261569.7_Silent_p.L1596L|MAST4_ENST00000403666.1_Silent_p.L1601L	p.L1793L			O15021	MAST4_HUMAN		Lung(70;0.011)	29	5685	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1793					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5377C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927128	0.18056	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.24	3.48	0.39840	.	.	.	.	.	T	0.62109	0.2401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58567	-0.7614	4	.	.	.	-14.6127	11.4824	0.50333	0.0:0.8561:0.0:0.1439	.	.	.	.	V	846	.	.	A	+	2	0	MAST4	66496131	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.782000	0.47758	0.785000	0.33685	-0.136000	0.14681	GCT		0.592	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			87	428	0	0	0	1	0	87	428				
TRAF3IP1	26146	broad.mit.edu	37	2	239234548	239234548	+	Silent	SNP	G	G	A	rs377279034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239234548G>A	ENST00000373327.4	+	3	513	c.291G>A	c.(289-291)gcG>gcA	p.A97A	TRAF3IP1_ENST00000391993.3_Silent_p.A97A|TRAF3IP1_ENST00000391994.2_Silent_p.A97A	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	97	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAATCGTGGCGGGGCATGAGC	0.468																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(289-291)gcG>gcA		TNF receptor-associated factor 3 interacting protein 1		G	,	0,4406		0,0,2203	79.0	72.0	74.0		291,291	-8.7	0.3	2		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRAF3IP1	NM_001139490.1,NM_015650.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	97/626,97/692	239234548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239234548G>A	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.291G>A	2.37:g.239234548G>A						TRAF3IP1_ENST00000391993.3_Silent_p.A97A|TRAF3IP1_ENST00000391994.2_Silent_p.A97A	p.A97A	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	3	513	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	97			Abolishes microtubules-binding when missing.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Silent	SNP	ENST00000373327.4	37	c.291G>A	CCDS33415.1																																																																																				0.468	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		76	214	0	0	0	1	0	76	214				
PUS7L	83448	broad.mit.edu	37	12	44148466	44148466	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44148466T>C	ENST00000416848.2	-	2	1071	c.583A>G	c.(583-585)Att>Gtt	p.I195V	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	195					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTTACAACAATTTCACTGTTT	0.323																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(583-585)Att>Gtt		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							62.0	62.0	62.0					12																	44148466		2203	4299	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148466T>C	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.583A>G	12.37:g.44148466T>C	ENSP00000415899:p.Ile195Val					PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V|PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V|PUS7L_ENST00000431332.3_Intron	p.I195V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1071	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	195					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.583A>G	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	9.974	1.226412	0.22542	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24538	1.98;1.98;1.98;1.85	5.08	2.65	0.31530	Pseudouridine synthase, catalytic domain (1);	0.210827	0.48767	N	0.000162	T	0.12561	0.0305	N	0.17872	0.535	0.80722	D	1	B	0.15141	0.012	B	0.14023	0.01	T	0.13255	-1.0516	10	0.13470	T	0.59	-16.7902	5.653	0.17627	0.0:0.1542:0.143:0.7028	.	195	Q9H0K6	PUS7L_HUMAN	V	195	ENSP00000415899:I195V;ENSP00000343081:I195V;ENSP00000447706:I195V;ENSP00000446865:I195V	ENSP00000343081:I195V	I	-	1	0	PUS7L	42434733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.344000	0.44010	0.450000	0.26774	0.482000	0.46254	ATT		0.323	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		76	247	0	0	0	1	0	76	247				
TTLL4	9654	broad.mit.edu	37	2	219602698	219602698	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602698G>A	ENST00000392102.1	+	3	639	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	100					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCAGGCCACAGCAGTTCCTGT	0.562																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(298-300)aGc>aAc		tubulin tyrosine ligase-like family, member 4							92.0	89.0	90.0					2																	219602698		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602698G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.299G>A	2.37:g.219602698G>A	ENSP00000375951:p.Ser100Asn					TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N	p.S100N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	639	+		Renal(207;0.0915)	100					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.299G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.072001	0.20147	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.72	4.72	0.59763	.	0.309004	0.28515	N	0.015069	T	0.16727	0.0402	N	0.24115	0.695	0.23720	N	0.99703	B;B	0.23058	0.079;0.079	B;B	0.20955	0.032;0.021	T	0.11203	-1.0597	10	0.56958	D	0.05	.	8.7699	0.34726	0.1007:0.0:0.8993:0.0	.	100;100	E7EX20;Q14679	.;TTLL4_HUMAN	N	100	ENSP00000411228:S100N;ENSP00000375951:S100N;ENSP00000391342:S100N;ENSP00000396555:S100N;ENSP00000405485:S100N;ENSP00000258398:S100N	ENSP00000258398:S100N	S	+	2	0	TTLL4	219310942	0.006000	0.16342	0.911000	0.35937	0.494000	0.33585	1.061000	0.30542	2.441000	0.82636	0.563000	0.77884	AGC		0.562	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		178	489	0	0	0	1	0	178	489				
ARFGEF2	10564	broad.mit.edu	37	20	47582460	47582460	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47582460T>C	ENST00000371917.4	+	8	959	c.959T>C	c.(958-960)cTg>cCg	p.L320P		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	320					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTAGGTGAACTGGAGTGCCAG	0.468																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(958-960)cTg>cCg		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							141.0	123.0	129.0					20																	47582460		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47582460T>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.959T>C	20.37:g.47582460T>C	ENSP00000360985:p.Leu320Pro						p.L320P	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		8	959	+			320					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.959T>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415843	0.25552	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.23950	1.88	5.77	1.91	0.25777	Armadillo-type fold (1);	1.860230	0.02204	N	0.062554	T	0.19167	0.0460	N	0.19112	0.55	0.20821	N	0.999841	B	0.24533	0.105	B	0.20384	0.029	T	0.22173	-1.0224	10	0.30854	T	0.27	.	8.4988	0.33146	0.0:0.2371:0.0:0.7629	.	320	Q9Y6D5	BIG2_HUMAN	P	320	ENSP00000360985:L320P	ENSP00000360985:L320P	L	+	2	0	ARFGEF2	47015867	0.201000	0.23410	0.163000	0.22734	0.955000	0.61496	0.678000	0.25277	0.331000	0.23511	0.379000	0.24179	CTG		0.468	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		100	386	0	0	0	1	0	100	386				
MEX3A	92312	broad.mit.edu	37	1	156047062	156047062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047062G>A	ENST00000532414.2	-	2	865	c.866C>T	c.(865-867)gCg>gTg	p.A289V	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	289						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGTGCGCACCGCGATGTGCGT	0.627																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(865-867)gCg>gTg		mex-3 RNA binding family member A							135.0	141.0	139.0					1																	156047062		2157	4251	6408	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047062G>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.866C>T	1.37:g.156047062G>A	ENSP00000432845:p.Ala289Val					MEX3A_ENST00000442784.1_5'UTR	p.A289V	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	865	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		289						Missense_Mutation	SNP	ENST00000532414.2	37	c.866C>T	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145694	0.94603	.	.	ENSG00000254726	ENST00000532414	T	0.44083	0.93	5.3	5.3	0.74995	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	P	0.56434	0.798	T	0.47995	-0.9073	10	0.72032	D	0.01	.	17.5189	0.87782	0.0:0.0:1.0:0.0	.	289	A1L020	MEX3A_HUMAN	V	289	ENSP00000432845:A289V	ENSP00000432845:A289V	A	-	2	0	MEX3A	154313686	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	9.869000	0.99810	2.477000	0.83638	0.313000	0.20887	GCG		0.627	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		57	294	0	0	0	1	0	57	294				
KCNN4	3783	broad.mit.edu	37	19	44278573	44278573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44278573G>A	ENST00000262888.3	-	3	849	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	152					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GCCAGGGACAGCAGCGCTTCC	0.731											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(454-456)Ctg>Ttg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						12.0	13.0	13.0					19																	44278573		2183	4287	6470	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44278573G>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.454C>T	19.37:g.44278573G>A			OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922		p.L152L	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			3	849	-		Prostate(69;0.0352)	152					Q53XR4	Silent	SNP	ENST00000262888.3	37	c.454C>T	CCDS12630.1																																																																																				0.731	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		13	59	0	0	0	1	0	13	59				
SOBP	55084	broad.mit.edu	37	6	107854756	107854756	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107854756G>T	ENST00000317357.5	+	4	1174	c.515G>T	c.(514-516)aGc>aTc	p.S172I		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGTGAAAAGCTTCTGCAGC	0.507																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(514-516)aGc>aTc		sine oculis binding protein homolog (Drosophila)							120.0	125.0	123.0					6																	107854756		1952	4149	6101	SO:0001583	missense	55084						metal ion binding	g.chr6:107854756G>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.515G>T	6.37:g.107854756G>T	ENSP00000318900:p.Ser172Ile						p.S172I	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	4	1174	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	172						Missense_Mutation	SNP	ENST00000317357.5	37	c.515G>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725865	0.69074	.	.	ENSG00000112320	ENST00000317357	T	0.24538	1.85	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.20685	0.6	0.80722	D	1	P	0.49783	0.928	P	0.51135	0.66	T	0.02365	-1.1170	10	0.23891	T	0.37	-14.0437	19.5093	0.95135	0.0:0.0:1.0:0.0	.	172	A7XYQ1	SOBP_HUMAN	I	172	ENSP00000318900:S172I	ENSP00000318900:S172I	S	+	2	0	SOBP	107961449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.615000	0.88500	0.467000	0.42956	AGC		0.507	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		160	625	1	0	2.01345e-68	1	2.55314e-68	160	625				
C11orf30	56946	broad.mit.edu	37	11	76257202	76257202	+	Missense_Mutation	SNP	C	C	T	rs150867470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76257202C>T	ENST00000529032.1	+	19	3635	c.3635C>T	c.(3634-3636)tCg>tTg	p.S1212L	C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1121L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1212					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAGTCCTGTTCGAGTCCATCC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19348	0.0		0.0	False		,,,				2504	0.0					ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3634-3636)tCg>tTg		chromosome 11 open reading frame 30		C	LEU/SER	6,4394	11.4+/-27.6	0,6,2194	85.0	87.0	86.0		3635	6.1	1.0	11	dbSNP_134	86	0,8584		0,0,4292	yes	missense	C11orf30	NM_020193.3	145	0,6,6486	TT,TC,CC		0.0,0.1364,0.0462	possibly-damaging	1212/1323	76257202	6,12978	2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257202C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3635C>T	11.37:g.76257202C>T	ENSP00000432327:p.Ser1212Leu					C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1121L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L	p.S1212L			Q7Z589	EMSY_HUMAN			19	3635	+			1212					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3635C>T	CCDS8244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.219679|2.219679	0.39201|0.39201	0.001364|0.001364	0.0|0.0	ENSG00000158636|ENSG00000158636	ENST00000531793|ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.151517	.|0.45867	.|D	.|0.000338	.|T	.|0.51329	.|0.1668	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;B;B;P;B;P	.|0.63880	.|0.993;0.273;0.273;0.828;0.273;0.828	.|P;B;B;B;B;B	.|0.56163	.|0.793;0.041;0.041;0.097;0.041;0.097	.|T	.|0.56153	.|-0.8026	.|9	.|0.72032	.|D	.|0.01	-7.9955|-7.9955	15.3534|15.3534	0.74409|0.74409	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	.|1121;1213;1227;1213;1114;1212	.|B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.|.;.;.;.;.;EMSY_HUMAN	X|L	71|1114;1212;894;1227;1121;1213;1213;1212	.|.	.|ENSP00000334130:S1212L	R|S	+|+	1|2	2|0	C11orf30|C11orf30	75934850|75934850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.003000|4.003000	0.57061|0.57061	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.522	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		81	336	0	0	0	1	0	81	336				
FBN2	2201	broad.mit.edu	37	5	127680140	127680140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127680140C>T	ENST00000508053.1	-	31	4254	c.3280G>A	c.(3280-3282)Gga>Aga	p.G1094R	FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R|FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R			P35556	FBN2_HUMAN	fibrillin 2	1094	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGAAGCTTCCGATTGTATTT	0.428																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3280-3282)Gga>Aga		fibrillin 2							138.0	132.0	134.0					5																	127680140		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127680140C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3280G>A	5.37:g.127680140C>T	ENSP00000424571:p.Gly1094Arg					FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R|FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R	p.G1094R			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	31	4254	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1094			EGF-like 15; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3280G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895790	0.52121	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99557	-6.16;-6.16;-6.16	4.54	3.68	0.42216	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000008	D	0.99704	0.9887	H	0.98178	4.165	0.80722	D	1	D;D	0.61697	0.968;0.99	P;P	0.58820	0.846;0.821	D	0.97397	0.9993	10	0.87932	D	0	.	13.6728	0.62436	0.0:0.924:0.0:0.076	.	1061;1094	D6RJI3;P35556	.;FBN2_HUMAN	R	1094;1094;1061	ENSP00000262464:G1094R;ENSP00000424571:G1094R;ENSP00000425596:G1061R	ENSP00000262464:G1094R	G	-	1	0	FBN2	127708039	1.000000	0.71417	0.942000	0.38095	0.007000	0.05969	7.607000	0.82883	1.520000	0.48965	-0.266000	0.10368	GGA		0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		109	528	0	0	0	1	0	109	528				
SLC16A10	117247	broad.mit.edu	37	6	111493992	111493992	+	Silent	SNP	C	C	A	rs562101130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111493992C>A	ENST00000368851.5	+	2	613	c.438C>A	c.(436-438)gtC>gtA	p.V146V	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	146					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	AAACAGCTGTCGTGGGTGCTG	0.428																																						ENST00000368851.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(436-438)gtC>gtA		solute carrier family 16 (aromatic amino acid transporter), member 10							264.0	249.0	254.0					6																	111493992		2203	4300	6503	SO:0001819	synonymous_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111493992C>A	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.438C>A	6.37:g.111493992C>A						SLC16A10_ENST00000465319.1_3'UTR	p.V146V	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	2	613	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	146					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.438C>A	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	C	8.461	0.855211	0.17106	.	.	ENSG00000112394	ENST00000419619;ENST00000439288	.	.	.	5.65	-6.94	0.01633	.	.	.	.	.	.	.	.	.	.	.	0.41365	D	0.987454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3115	0.49366	0.0:0.1161:0.1904:0.6935	.	.	.	.	X	32	.	.	S	+	2	0	SLC16A10	111600685	0.622000	0.27085	0.022000	0.16811	0.974000	0.67602	-0.354000	0.07681	-1.353000	0.02191	0.491000	0.48974	TCG		0.428	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			141	617	1	0	5.71173e-70	1	7.25183e-70	141	617				
CLEC4M	10332	broad.mit.edu	37	19	7831659	7831659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7831659C>T	ENST00000327325.5	+	5	1020	c.902C>T	c.(901-903)gCc>gTc	p.A301V	CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	301	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAGTGAGGGCCCAGCTCGTC	0.592																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(901-903)gCc>gTc		C-type lectin domain family 4, member M							85.0	78.0	81.0					19																	7831659		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831659C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.902C>T	19.37:g.7831659C>T	ENSP00000316228:p.Ala301Val					CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V	p.A301V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			5	1020	+			301			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.902C>T	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130790	0.56828	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.94	2.57	2.57	0.30868	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.60418	0.2267	H	0.96015	3.755	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.989;0.999;0.997;0.952;0.999;0.999;0.994	T	0.51212	-0.8734	9	0.87932	D	0	.	8.8251	0.35050	0.0:1.0:0.0:0.0	.	250;234;301;289;278;273;165;209	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	V	301;289;279;250;234;301;245	ENSP00000316228:A301V;ENSP00000377680:A289V;ENSP00000248228:A279V;ENSP00000335228:A250V;ENSP00000351954:A234V;ENSP00000349924:A301V	ENSP00000248228:A279V	A	+	2	0	CLEC4M	7737659	0.001000	0.12720	0.202000	0.23494	0.138000	0.21146	0.626000	0.24492	1.754000	0.51921	0.556000	0.70494	GCC		0.592	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		91	362	0	0	0	1	0	91	362				
LRIG2	9860	broad.mit.edu	37	1	113655143	113655143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113655143G>A	ENST00000361127.5	+	14	2039	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	614	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGACTATTCGCACTGGTGCC	0.478																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(1840-1842)cGc>cAc		leucine-rich repeats and immunoglobulin-like domains 2							145.0	139.0	141.0					1																	113655143		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113655143G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1841G>A	1.37:g.113655143G>A	ENSP00000355396:p.Arg614His					LRIG2_ENST00000492207.1_3'UTR	p.R614H	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	14	2039	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	614			Ig-like C2-type 2.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1841G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	33	5.254238	0.95336	.	.	ENSG00000198799	ENST00000361127	T	0.68025	-0.3	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.73388	-0.3998	10	0.59425	D	0.04	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	614	O94898	LRIG2_HUMAN	H	614	ENSP00000355396:R614H	ENSP00000355396:R614H	R	+	2	0	LRIG2	113456666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.560000	0.86352	0.591000	0.81541	CGC		0.478	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		134	463	0	0	0	1	0	134	463				
PIWIL3	440822	broad.mit.edu	37	22	25131759	25131759	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25131759C>A	ENST00000332271.5	-	13	1966	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	517					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTGTGACTGCTCCTGCTATA	0.428																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1549-1551)aGc>aTc		piwi-like RNA-mediated gene silencing 3							213.0	207.0	209.0					22																	25131759		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25131759C>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1550G>T	22.37:g.25131759C>A	ENSP00000330031:p.Ser517Ile					PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000532537.2_5'UTR	p.S517I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			13	1966	-			517						Missense_Mutation	SNP	ENST00000332271.5	37	c.1550G>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641480	0.29157	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.05081	3.5;3.5;3.5	1.85	-2.71	0.05986	Ribonuclease H-like (1);	0.337015	0.28062	U	0.016756	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;P;P	0.45715	0.382;0.789;0.865	B;P;B	0.44597	0.031;0.454;0.326	T	0.40776	-0.9545	10	0.72032	D	0.01	4.0E-4	6.8962	0.24257	0.0:0.5027:0.0:0.4973	.	408;517;517	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	517;408;408	ENSP00000330031:S517I;ENSP00000431843:S408I;ENSP00000435718:S408I	ENSP00000330031:S517I	S	-	2	0	PIWIL3	23461759	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.032000	0.30178	-0.695000	0.05105	-0.657000	0.03884	AGC		0.428	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		162	767	1	0	2.91622e-83	1	3.73361e-83	162	767				
SEMA3G	56920	broad.mit.edu	37	3	52474045	52474045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52474045G>T	ENST00000231721.2	-	11	1212	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	405	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAAACTGCAGCACCTCATCT	0.637																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(1213-1215)Ctg>Atg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							93.0	90.0	91.0					3																	52474045		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52474045G>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1213C>A	3.37:g.52474045G>T	ENSP00000231721:p.Leu405Met						p.L405M	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	11	1212	-			405			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1213C>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749069	0.69533	.	.	ENSG00000010319	ENST00000231721	T	0.30981	1.51	5.13	3.32	0.38043	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000005	T	0.62282	0.2415	M	0.92507	3.315	0.44024	D	0.996745	D	0.76494	0.999	D	0.83275	0.996	T	0.69921	-0.5014	10	0.87932	D	0	.	11.8658	0.52493	0.1436:0.0:0.8564:0.0	.	405	Q9NS98	SEM3G_HUMAN	M	405	ENSP00000231721:L405M	ENSP00000231721:L405M	L	-	1	2	SEMA3G	52449085	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.265000	0.51561	0.732000	0.32470	0.561000	0.74099	CTG		0.637	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		99	376	1	0	4.73232e-52	1	5.88258e-52	99	376				
ZCWPW1	55063	broad.mit.edu	37	7	100006218	100006218	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006218G>T	ENST00000398027.2	-	10	1180	c.933C>A	c.(931-933)gcC>gcA	p.A311A	ZCWPW1_ENST00000360951.4_Silent_p.A312A|ZCWPW1_ENST00000490721.1_Silent_p.A191A|ZCWPW1_ENST00000324725.6_Silent_p.A191A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	311							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGAGGCATAGGCCACATCAC	0.502																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(931-933)gcC>gcA		zinc finger, CW type with PWWP domain 1							157.0	153.0	154.0					7																	100006218		2025	4192	6217	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:100006218G>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.933C>A	7.37:g.100006218G>T						ZCWPW1_ENST00000324725.6_Silent_p.A191A|ZCWPW1_ENST00000360951.4_Silent_p.A312A|ZCWPW1_ENST00000490721.1_Silent_p.A191A	p.A311A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			10	1180	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		311					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.933C>A	CCDS43623.1																																																																																				0.502	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		104	366	1	0	1.39607e-43	1	1.70485e-43	104	366				
LCA5	167691	broad.mit.edu	37	6	80197365	80197365	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80197365G>A	ENST00000392959.1	-	9	2061	c.1450C>T	c.(1450-1452)Cta>Tta	p.L484L	LCA5_ENST00000369846.4_Silent_p.L484L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	484					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGGTATTTTAGATTTCGAGAA	0.388																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1450-1452)Cta>Tta		Leber congenital amaurosis 5							141.0	141.0	141.0					6																	80197365		2203	4299	6502	SO:0001819	synonymous_variant	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80197365G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1450C>T	6.37:g.80197365G>A						LCA5_ENST00000369846.4_Silent_p.L484L	p.L484L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	9	2061	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	484					E1P542|Q9BWX7	Silent	SNP	ENST00000392959.1	37	c.1450C>T	CCDS4990.1																																																																																				0.388	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		34	758	0	0	0	1	0	34	758				
TRIM62	55223	broad.mit.edu	37	1	33625357	33625357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33625357G>A	ENST00000291416.5	-	3	926	c.693C>T	c.(691-693)atC>atT	p.I231I	TRIM62_ENST00000543586.1_Silent_p.I110I|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	231					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GCTCCTGCAGGATCTGGGCTC	0.692																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(691-693)atC>atT		tripartite motif containing 62							50.0	52.0	51.0					1																	33625357		2203	4300	6503	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33625357G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.693C>T	1.37:g.33625357G>A						TRIM62_ENST00000543586.1_Silent_p.I110I|TRIM62_ENST00000485148.1_5'UTR	p.I231I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			3	926	-		Myeloproliferative disorder(586;0.0393)	231					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.693C>T	CCDS376.1																																																																																				0.692	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		11	376	0	0	0	1	0	11	376				
CPSF6	11052	broad.mit.edu	37	12	69653851	69653851	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69653851T>C	ENST00000435070.2	+	8	1453	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	448					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATTGAGACACTGGTAACTGCA	0.363																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(1342-1344)cTg>cCg		cleavage and polyadenylation specific factor 6, 68kDa							135.0	135.0	135.0					12																	69653851		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69653851T>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1343T>C	12.37:g.69653851T>C	ENSP00000391774:p.Leu448Pro					CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P	p.L448P	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		8	1453	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		448					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1343T>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482956	0.84747	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.88354	-2.37;-2.37;-2.37	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.993	D	0.93227	0.6614	9	.	.	.	-2.7417	16.3141	0.82909	0.0:0.0:0.0:1.0	.	196;485;448	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	P	448;375;485	ENSP00000391774:L448P;ENSP00000391437:L375P;ENSP00000266679:L485P	.	L	+	2	0	CPSF6	67940118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	CTG		0.363	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		64	345	0	0	0	1	0	64	345				
KDM3A	55818	broad.mit.edu	37	2	86716673	86716673	+	Missense_Mutation	SNP	C	C	A	rs149432098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86716673C>A	ENST00000409556.1	+	24	3829	c.3464C>A	c.(3463-3465)tCt>tAt	p.S1155Y	KDM3A_ENST00000542128.1_Missense_Mutation_p.S1103Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1155	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATGGAGATTCTGACGAACTC	0.438																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(3463-3465)tCt>tAt		lysine (K)-specific demethylase 3A							83.0	78.0	80.0					2																	86716673		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86716673C>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3464C>A	2.37:g.86716673C>A	ENSP00000386660:p.Ser1155Tyr					KDM3A_ENST00000542128.1_Missense_Mutation_p.S1103Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y	p.S1155Y			Q9Y4C1	KDM3A_HUMAN			24	3829	+			1155			JmjC.		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.3464C>A	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982435	0.74474	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.4	4.47	0.54385	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.166790	0.42682	D	0.000664	T	0.74566	0.3733	N	0.19112	0.55	0.43377	D	0.995473	D;D	0.58970	0.984;0.984	P;P	0.61592	0.891;0.861	T	0.75439	-0.3317	10	0.42905	T	0.14	.	15.8767	0.79170	0.0:0.8649:0.1351:0.0	.	1103;1155	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Y	1155;1155;1155;1155;1103	ENSP00000386660:S1155Y;ENSP00000323659:S1155Y;ENSP00000386516:S1155Y;ENSP00000438324:S1103Y	ENSP00000323659:S1155Y	S	+	2	0	KDM3A	86570184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.604000	0.61112	2.692000	0.91855	0.655000	0.94253	TCT		0.438	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		12	315	1	0	7.03913e-09	1	7.37812e-09	12	315				
AP5Z1	9907	broad.mit.edu	37	7	4820858	4820858	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4820858C>A	ENST00000348624.4	+	2	188	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L32M	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	32					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGTAAACTGCTGCAGGCGGA	0.582																																						ENST00000348624.4																			0											c.(94-96)Ctg>Atg		adaptor-related protein complex 5, zeta 1 subunit							56.0	62.0	60.0					7																	4820858		1988	4180	6168	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4820858C>A	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.94C>A	7.37:g.4820858C>A	ENSP00000297562:p.Leu32Met					AP5Z1_ENST00000401897.1_Missense_Mutation_p.L32M	p.L32M	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			2	188	+			32					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.94C>A	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145985	0.57044	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.75367	-0.93;-0.32	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000003	D	0.86280	0.5895	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87905	0.2693	10	0.87932	D	0	.	16.1738	0.81836	0.0:1.0:0.0:0.0	.	32	O43299	K0415_HUMAN	M	32	ENSP00000297562:L32M;ENSP00000384980:L32M	ENSP00000297562:L32M	L	+	1	2	KIAA0415	4787384	1.000000	0.71417	0.998000	0.56505	0.025000	0.11179	6.680000	0.74518	2.494000	0.84150	0.655000	0.94253	CTG		0.582	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			48	280	1	0	4.64027e-19	1	5.16652e-19	48	280				
ERICH1	157697	broad.mit.edu	37	8	623643	623643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623643C>T	ENST00000262109.7	-	4	786	c.709G>A	c.(709-711)Gct>Act	p.A237T	ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	237	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCTCGCTAGCGTCCGCACCA	0.617																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(709-711)Gct>Act		glutamate-rich 1							128.0	118.0	121.0					8																	623643		2203	4300	6503	SO:0001583	missense	157697							g.chr8:623643C>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.709G>A	8.37:g.623643C>T	ENSP00000262109:p.Ala237Thr					ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T	p.A237T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	786	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	237			Glu-rich.		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.709G>A	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.934118	0.02340	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.35973	1.28;1.4	1.47	-2.93	0.05598	.	.	.	.	.	T	0.13543	0.0328	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25537	-1.0129	9	0.13470	T	0.59	.	0.6768	0.00868	0.1732:0.2483:0.172:0.4065	.	237;237;143	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	T	237;143;237	ENSP00000428635:A143T;ENSP00000262109:A237T	ENSP00000262109:A237T	A	-	1	0	ERICH1	613643	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.912000	0.01582	-1.447000	0.01943	-3.692000	0.00024	GCT		0.617	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		167	674	0	0	0	1	0	167	674				
PHF20L1	51105	broad.mit.edu	37	8	133827072	133827072	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133827072T>G	ENST00000395386.2	+	10	1420	c.1121T>G	c.(1120-1122)tTa>tGa	p.L374*	PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	374							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCCCAGAATTAATACAAGTC	0.368																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1120-1122)tTa>tGa		PHD finger protein 20-like 1							116.0	112.0	113.0					8																	133827072		2203	4299	6502	SO:0001587	stop_gained	51105						nucleic acid binding|zinc ion binding	g.chr8:133827072T>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1121T>G	8.37:g.133827072T>G	ENSP00000378784:p.Leu374*					PHF20L1_ENST00000395383.1_Nonsense_Mutation_p.L378*|PHF20L1_ENST00000395382.3_Nonsense_Mutation_p.L244*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*|PHF20L1_ENST00000315808.10_Nonsense_Mutation_p.L374*|PHF20L1_ENST00000220847.7_5'UTR	p.L374*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		10	1420	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		374					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	ENST00000395386.2	37	c.1121T>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	38	6.924387	0.97940	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	.	.	.	5.98	5.98	0.97165	.	0.840981	0.10934	N	0.618005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9413	15.6508	0.77091	0.0:0.0:0.0:1.0	.	.	.	.	X	378;349;374;374;244;349	.	ENSP00000324519:L374X	L	+	2	0	PHF20L1	133896254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.289000	0.77006	0.482000	0.46254	TTA		0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		91	443	0	0	0	1	0	91	443				
ZNF254	9534	broad.mit.edu	37	19	24289407	24289407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24289407G>A	ENST00000357002.4	+	3	330	c.215G>A	c.(214-216)tGg>tAg	p.W72*	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAAGAGCCCTGGAATATGAAG	0.423																																						ENST00000357002.4																			0											c.(214-216)tGg>tAg		zinc finger protein 254							130.0	140.0	137.0					19																	24289407		1511	2709	4220	SO:0001587	stop_gained	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24289407G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.215G>A	19.37:g.24289407G>A	ENSP00000349494:p.Trp72*					ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*|ZNF254_ENST00000342944.6_Intron	p.W72*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			3	330	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	72			KRAB.		A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	37	c.215G>A	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	8.196	0.796989	0.16327	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	72	.	ENSP00000341573:W72X	W	+	2	0	ZNF254	24081247	0.123000	0.22298	0.064000	0.19789	0.065000	0.16274	1.038000	0.30254	0.300000	0.22699	0.305000	0.20034	TGG		0.423	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		56	634	0	0	0	1	0	56	634				
IGHV1-3	28473	broad.mit.edu	37	14	106471383	106471383	+	RNA	SNP	C	C	T	rs184320740	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106471383C>T	ENST00000390595.2	-	0	255									immunoglobulin heavy variable 1-3																		CCATTGCCAGCGTTGCTCCAT	0.547													.|||	8	0.00159744	0.0061	0.0	5008	,	,		9028	0.0		0.0	False		,,,				2504	0.0					ENST00000390595.2																			0															T		36,3884		0,36,1924	142.0	129.0	133.0			-4.0	0.0	14		133	0,8258		0,0,4129	no	intergenic				0,36,6053	TT,TC,CC		0.0,0.9184,0.2956			106471383	36,12142	1960	4129	6089			0							g.chr14:106471383C>T	X62109		14q32.33	2012-02-08			ENSG00000211935	ENSG00000211935		"""Immunoglobulins / IGH locus"""	5552	other	immunoglobulin gene							Standard	NG_001019		Approved	VI-3B			OTTHUMG00000152323		14.37:g.106471383C>T														0	255	-									RNA	SNP	ENST00000390595.2	37																																																																																						0.547	IGHV1-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325885.1	NG_001019		146	676	0	0	0	1	0	146	676				
DDX11	1663	broad.mit.edu	37	12	31254899	31254899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31254899C>A	ENST00000407793.2	+	21	2436	c.2185C>A	c.(2185-2187)Ctg>Atg	p.L729M	DDX11_ENST00000542838.1_Missense_Mutation_p.L729M|DDX11_ENST00000545668.1_Missense_Mutation_p.L729M|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.L703M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	729					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGGGCCGTCTGGCTGCCAG	0.637										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2185-2187)Ctg>Atg		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							48.0	48.0	48.0					12																	31254899		1873	4066	5939	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31254899C>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2185C>A	12.37:g.31254899C>A	ENSP00000384703:p.Leu729Met	Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Missense_Mutation_p.L703M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.L729M|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000542838.1_Missense_Mutation_p.L729M	p.L729M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			21	2436	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		729					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2185C>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251045	0.22880	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	3.85	1.98	0.26296	Helicase, ATP-dependent, c2 type (1);	0.000000	0.64402	D	0.000001	D	0.94778	0.8314	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.92802	0.6257	10	0.72032	D	0.01	.	7.095	0.25305	0.0:0.7656:0.0:0.2344	.	703;729;729	Q96FC9-3;Q96FC9;Q96FC9-2	.;DDX11_HUMAN;.	M	729;729;454;703;729	ENSP00000443426:L729M;ENSP00000384703:L729M;ENSP00000228264:L703M;ENSP00000440402:L729M	ENSP00000228264:L703M	L	+	1	2	DDX11	31146166	0.397000	0.25270	0.860000	0.33809	0.025000	0.11179	0.867000	0.27968	0.285000	0.22329	-0.199000	0.12753	CTG		0.637	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		12	169	1	0	0.00244969	1	0.00247089	12	169				
LOC440040	440040	broad.mit.edu	37	11	49831766	49831766	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49831766G>A	ENST00000527477.1	+	0	1991																											CTCCTCTCAGGCCTATCTTTT	0.443																																						ENST00000527477.1																			0																																																			0							g.chr11:49831766G>A																													11.37:g.49831766G>A														0	1991	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.443	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			193	978	0	0	0	1	0	193	978				
SNURF	8926	broad.mit.edu	37	15	25227112	25227112	+	3'UTR	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25227112A>C	ENST00000551312.2	+	0	712				SNHG14_ENST00000551361.1_RNA|SNHG14_ENST00000551631.2_RNA|SNHG14_ENST00000459433.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		ATAAAGAGAAATAAGCATATA	0.368																																						ENST00000551631.2																			0																				366.0	356.0	359.0					15																	25227112		876	1991	2867	SO:0001624	3_prime_UTR_variant	0							g.chr15:25227112A>C		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.*481A>C	15.37:g.25227112A>C								NR_001293.1						0	415	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1																																																																																				0.368	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		36	1273	0	0	0	1	0	36	1273				
PRR12	57479	broad.mit.edu	37	19	50098064	50098064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098064G>A	ENST00000418929.2	+	4	484	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCTTCCTTCGGCAGCCGCCC	0.667																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(472-474)Ggc>Agc		proline rich 12							21.0	26.0	24.0					19																	50098064		1997	4149	6146	SO:0001583	missense	57479						DNA binding	g.chr19:50098064G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.472G>A	19.37:g.50098064G>A	ENSP00000394510:p.Gly158Ser						p.G158S	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	484	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	571			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.472G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615774	0.28801	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.71	2.67	0.31697	.	.	.	.	.	T	0.13114	0.0318	.	.	.	0.24849	N	0.992416	B	0.24368	0.102	B	0.17098	0.017	T	0.31696	-0.9934	7	0.02654	T	1	.	5.27	0.15620	0.3422:0.0:0.6578:0.0	.	158	Q9ULL5-3	.	S	158	.	ENSP00000394510:G158S	G	+	1	0	PRR12	54789876	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.418000	0.34782	0.922000	0.37019	0.563000	0.77884	GGC		0.667	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		30	91	0	0	0	1	0	30	91				
ZNF71	58491	broad.mit.edu	37	19	57134102	57134102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57134102C>T	ENST00000328070.6	+	3	1681	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAACCTGACGCGCCACCTGCG	0.652																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1447-1449)Cgc>Tgc		zinc finger protein 71							42.0	45.0	44.0					19																	57134102		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57134102C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1447C>T	19.37:g.57134102C>T	ENSP00000328245:p.Arg483Cys						p.R483C	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1681	+			483					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.1447C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914312	0.52546	.	.	ENSG00000197951	ENST00000328070	T	0.31247	1.5	3.11	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	M	0.76433	2.335	0.09310	N	0.999995	B	0.29508	0.246	B	0.17433	0.018	T	0.21895	-1.0232	9	0.59425	D	0.04	.	10.2854	0.43564	0.4993:0.5006:0.0:0.0	.	483	Q9NQZ8	ZNF71_HUMAN	C	483	ENSP00000328245:R483C	ENSP00000328245:R483C	R	+	1	0	ZNF71	61825914	0.000000	0.05858	0.986000	0.45419	0.981000	0.71138	-1.191000	0.03055	0.313000	0.23062	0.561000	0.74099	CGC		0.652	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		56	326	0	0	0	1	0	56	326				
ACOX3	8310	broad.mit.edu	37	4	8396442	8396442	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8396442C>T	ENST00000356406.5	-	10	1161	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T|RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	362					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGTAGACAGCTGCCAGATAT	0.572																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(1084-1086)Gct>Act		acyl-CoA oxidase 3, pristanoyl							67.0	62.0	64.0					4																	8396442		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8396442C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1084G>A	4.37:g.8396442C>T	ENSP00000348775:p.Ala362Thr					ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T|ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T	p.A362T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			10	1161	-			362					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.1084G>A	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772563	0.49680	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96104	-3.91;-3.91;-3.91	4.31	4.31	0.51392	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.45581	1.43	0.80722	D	1	D;D;D	0.60575	0.974;0.985;0.988	P;P;P	0.61722	0.677;0.828;0.893	D	0.93855	0.7148	10	0.20519	T	0.43	-22.3756	16.0751	0.80962	0.0:1.0:0.0:0.0	.	362;362;362	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	T	362	ENSP00000413994:A362T;ENSP00000348775:A362T;ENSP00000421625:A362T	ENSP00000348775:A362T	A	-	1	0	ACOX3	8447342	1.000000	0.71417	0.235000	0.24058	0.058000	0.15608	6.375000	0.73137	2.395000	0.81488	0.650000	0.86243	GCT		0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			35	115	0	0	0	1	0	35	115				
SF3B3	23450	broad.mit.edu	37	16	70605707	70605707	+	Silent	SNP	C	C	T	rs376546377		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70605707C>T	ENST00000302516.5	+	26	3856	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1215					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGACCCGCTACGCCTTCTGAG	0.552																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3643-3645)taC>taT		splicing factor 3b, subunit 3, 130kDa		C		0,4396		0,0,2198	89.0	77.0	81.0		3645	-2.0	1.0	16		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SF3B3	NM_012426.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		1215/1218	70605707	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70605707C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3645C>T	16.37:g.70605707C>T							p.Y1215Y	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			26	3856	+		Ovarian(137;0.0694)	1215					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.3645C>T	CCDS10894.1																																																																																				0.552	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		58	269	0	0	0	1	0	58	269				
DNA2	1763	broad.mit.edu	37	10	70182500	70182500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70182500C>A	ENST00000358410.3	-	15	2406	c.2356G>T	c.(2356-2358)Ggg>Tgg	p.G786W	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Missense_Mutation_p.G872W	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	786	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGATGGTCCCCCACTAACACA	0.408																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2614-2616)Ggg>Tgg		DNA replication helicase/nuclease 2							36.0	36.0	36.0					10																	70182500		1827	4076	5903	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70182500C>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2356G>T	10.37:g.70182500C>A	ENSP00000351185:p.Gly786Trp					DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.G786W	p.G872W			P51530	DNA2L_HUMAN			15	2613	-			786					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.2614G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.109622|4.109622	0.77096|0.77096	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000440722|ENST00000399180;ENST00000358410	.|D;D	.|0.99578	.|-6.21;-6.21	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.107348|0.107348	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.99816|0.99816	0.9919|0.9919	H|H	0.99211|0.99211	4.47|4.47	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96968|0.96968	0.9706|0.9706	6|10	.|0.87932	.|D	.|0	.|.	13.0117|13.0117	0.58735|0.58735	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|786	.|P51530	.|DNA2L_HUMAN	V|W	107|872;786	.|ENSP00000382133:G872W;ENSP00000351185:G786W	.|ENSP00000351185:G786W	G|G	-|-	2|1	0|0	DNA2|DNA2	69852506|69852506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	7.622000|7.622000	0.83099|0.83099	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GGG|GGG		0.408	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			42	156	1	0	5.59293e-11	1	5.94944e-11	42	156				
CPSF2	53981	broad.mit.edu	37	14	92609433	92609433	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92609433A>G	ENST00000298875.4	+	9	1220	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	312					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCTTTATGTCATGGTCTTTCT	0.428																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(934-936)cAt>cGt		cleavage and polyadenylation specific factor 2, 100kDa							108.0	92.0	98.0					14																	92609433		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92609433A>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.935A>G	14.37:g.92609433A>G	ENSP00000298875:p.His312Arg						p.H312R	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	9	1220	+		all_cancers(154;0.0766)	312					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.935A>G	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377984	0.82682	.	.	ENSG00000165934	ENST00000298875	T	0.42900	0.96	4.99	4.99	0.66335	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58864	-0.7561	10	0.29301	T	0.29	.	15.0003	0.71466	1.0:0.0:0.0:0.0	.	312	Q9P2I0	CPSF2_HUMAN	R	312	ENSP00000298875:H312R	ENSP00000298875:H312R	H	+	2	0	CPSF2	91679186	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.172000	0.94808	1.996000	0.58369	0.402000	0.26972	CAT		0.428	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			25	273	0	0	0	1	0	25	273				
PRPF8	10594	broad.mit.edu	37	17	1563837	1563837	+	Silent	SNP	C	C	T	rs140446903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563837C>T	ENST00000572621.1	-	29	4939	c.4674G>A	c.(4672-4674)acG>acA	p.T1558T	PRPF8_ENST00000304992.6_Silent_p.T1558T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1558	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAAGATACCCGTCAGGTCTA	0.498													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22992	0.0		0.0	False		,,,				2504	0.0					ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4672-4674)acG>acA		pre-mRNA processing factor 8		C		6,4400	11.4+/-27.6	0,6,2197	141.0	138.0	139.0		4674	-8.8	0.9	17	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous	PRPF8	NM_006445.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		1558/2336	1563837	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563837C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4674G>A	17.37:g.1563837C>T						PRPF8_ENST00000304992.6_Silent_p.T1558T	p.T1558T			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	4939	-			1558					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4674G>A	CCDS11010.1																																																																																				0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			25	859	0	0	0	1	0	25	859				
ANXA8L1	728113	broad.mit.edu	37	10	47756730	47756730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47756730G>A	ENST00000374277.5	+	8	766	c.644G>A	c.(643-645)aGa>aAa	p.R215K	AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000449464.2_3'UTR|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K|ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R153K	NM_001630.2	NP_001621.2														endometrium(1)|pancreas(1)	2						CACCTGCTGAGAGGTACCAGG	0.587																																						ENST00000374277.5																			0				endometrium(1)|pancreas(1)	2						c.(643-645)aGa>aAa		annexin A8-like 2							7.0	5.0	6.0					10																	47756730		1537	2833	4370	SO:0001583	missense	244						calcium ion binding|calcium-dependent phospholipid binding	g.chr10:47756730G>A																												ENST00000374277.5:c.644G>A	10.37:g.47756730G>A	ENSP00000363395:p.Arg215Lys					ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K|ANXA8L2_ENST00000449464.2_3'UTR|AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R153K	p.R215K	NM_001630.2	NP_001621.2	Q5VT79	AXA82_HUMAN			8	766	+			215						Missense_Mutation	SNP	ENST00000374277.5	37	c.644G>A	CCDS7216.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.343474	0.01277	.	.	ENSG00000186807	ENST00000340243;ENST00000374277;ENST00000538825	T;T;T	0.03094	4.05;4.05;4.05	1.76	1.76	0.24704	Annexin repeat, conserved site (1);	0.092566	0.47455	D	0.000227	T	0.01489	0.0048	N	0.04787	-0.16	0.80722	D	1	B;B;B	0.25351	0.007;0.124;0.0	B;B;B	0.24269	0.01;0.052;0.007	T	0.45600	-0.9250	10	0.02654	T	1	.	7.1177	0.25427	0.0:0.0:1.0:0.0	.	158;196;215	B4DTF2;Q5VT79-2;Q5VT79	.;.;AXA82_HUMAN	K	196;215;153	ENSP00000339264:R196K;ENSP00000363395:R215K;ENSP00000440742:R153K	ENSP00000339264:R196K	R	+	2	0	ANXA8L2	47226736	0.999000	0.42202	1.000000	0.80357	0.633000	0.38033	0.312000	0.19397	1.340000	0.45581	0.274000	0.19336	AGA		0.587	ANXA8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047866.1			60	224	0	0	0	1	0	60	224				
ANKK1	255239	broad.mit.edu	37	11	113269997	113269997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113269997G>A	ENST00000303941.3	+	8	1400	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	436							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCACTTTGCAGCCCAGAATGG	0.647																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1306-1308)Gcc>Acc		ankyrin repeat and kinase domain containing 1							23.0	26.0	25.0					11																	113269997		2137	4235	6372	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113269997G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1306G>A	11.37:g.113269997G>A	ENSP00000306678:p.Ala436Thr						p.A436T	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1400	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	436						Missense_Mutation	SNP	ENST00000303941.3	37	c.1306G>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357415	0.61293	.	.	ENSG00000170209	ENST00000303941	T	0.71817	-0.6	4.61	4.61	0.57282	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000021	T	0.81880	0.4916	L	0.61387	1.9	0.48135	D	0.999594	D	0.76494	0.999	D	0.73708	0.981	D	0.84058	0.0373	10	0.72032	D	0.01	-20.5807	16.5983	0.84802	0.0:0.0:1.0:0.0	.	436	Q8NFD2	ANKK1_HUMAN	T	436	ENSP00000306678:A436T	ENSP00000306678:A436T	A	+	1	0	ANKK1	112775207	1.000000	0.71417	0.945000	0.38365	0.082000	0.17680	6.159000	0.71856	2.387000	0.81309	0.455000	0.32223	GCC		0.647	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		13	56	0	0	0	1	0	13	56				
HSD17B2	3294	broad.mit.edu	37	16	82069166	82069166	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82069166C>T	ENST00000199936.4	+	1	330	c.137C>T	c.(136-138)gCa>gTa	p.A46V		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	46					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GGCCTCTGTGCAGTCTGCCTG	0.512																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(136-138)gCa>gTa		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						123.0	86.0	99.0					16																	82069166		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82069166C>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.137C>T	16.37:g.82069166C>T	ENSP00000199936:p.Ala46Val						p.A46V	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			1	330	+			46					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.137C>T	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698495	0.30142	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.31	0.988	0.19796	.	0.700950	0.12992	N	0.422406	T	0.67841	0.2936	N	0.22421	0.69	0.22240	N	0.999265	P	0.38335	0.627	B	0.35114	0.196	T	0.54180	-0.8332	10	0.23891	T	0.37	.	8.7751	0.34756	0.0891:0.5215:0.3895:0.0	.	46	P37059	DHB2_HUMAN	V	46	ENSP00000199936:A46V	ENSP00000199936:A46V	A	+	2	0	HSD17B2	80626667	0.997000	0.39634	0.982000	0.44146	0.169000	0.22640	0.538000	0.23160	0.291000	0.22468	-0.340000	0.08031	GCA		0.512	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		24	258	0	0	0	1	0	24	258				
OR7E24	26648	broad.mit.edu	37	19	9362113	9362113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362113C>A	ENST00000456448.1	+	1	508	c.394C>A	c.(394-396)Ctc>Atc	p.L132I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGATGACATGCTCCTGAGTGT	0.478																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(394-396)Ctc>Atc		olfactory receptor, family 7, subfamily E, member 24							123.0	126.0	125.0					19																	9362113		2199	4300	6499	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362113C>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.394C>A	19.37:g.9362113C>A	ENSP00000387523:p.Leu132Ile						p.L132I	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	508	+			132					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.394C>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	7.659	0.684572	0.14973	.	.	ENSG00000237521	ENST00000456448	T	0.06371	3.31	2.39	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09555	0.0235	L	0.45051	1.395	0.09310	N	1	D	0.62365	0.991	P	0.52672	0.706	T	0.21280	-1.0250	9	0.62326	D	0.03	.	7.3681	0.26785	0.1775:0.4772:0.3453:0.0	.	132	Q6IFN5	O7E24_HUMAN	I	132	ENSP00000387523:L132I	ENSP00000387523:L132I	L	+	1	0	OR7E24	9223113	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.683000	0.01934	-0.433000	0.07286	-0.445000	0.05633	CTC		0.478	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			56	231	1	0	2.84144e-21	1	3.19776e-21	56	231				
ZSCAN1	284312	broad.mit.edu	37	19	58551856	58551856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58551856A>G	ENST00000282326.1	+	4	656	c.409A>G	c.(409-411)Agt>Ggt	p.S137G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	137					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGGACTGGAGTTTCGGTGA	0.617																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(409-411)Agt>Ggt		zinc finger and SCAN domain containing 1							114.0	123.0	120.0					19																	58551856		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551856A>G	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.409A>G	19.37:g.58551856A>G	ENSP00000282326:p.Ser137Gly						p.S137G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	656	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	137					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.409A>G	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605295	0.03717	.	.	ENSG00000152467	ENST00000282326	T	0.04360	3.64	1.09	-0.0961	0.13638	Transcription regulator SCAN (1);	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.44483	-0.9325	9	0.39692	T	0.17	.	3.2733	0.06889	0.7278:0.0:0.2722:0.0	.	137	Q8NBB4	ZSCA1_HUMAN	G	137	ENSP00000282326:S137G	ENSP00000282326:S137G	S	+	1	0	ZSCAN1	63243668	0.005000	0.15991	0.061000	0.19648	0.948000	0.59901	0.294000	0.19047	-0.098000	0.12285	0.260000	0.18958	AGT		0.617	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		70	898	0	0	0	1	0	70	898				
BRF1	2972	broad.mit.edu	37	14	105695248	105695248	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105695248G>T	ENST00000546474.1	-	7	15656	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	BRF1_ENST00000379932.4_Missense_Mutation_p.L29I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000440513.3_Missense_Mutation_p.L118I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	233					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCAACCAGGAGCGCTGGAAGG	0.607																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(697-699)Ctc>Atc		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							242.0	216.0	225.0					14																	105695248		2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105695248G>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.697C>A	14.37:g.105695248G>T	ENSP00000448323:p.Leu233Ile					BRF1_ENST00000379932.4_Missense_Mutation_p.L29I|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.L118I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I	p.L233I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	7	15656	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	233					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.697C>A	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.848046|2.848046	0.51164|0.51164	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000546417|ENST00000392557;ENST00000379937;ENST00000546474;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127;ENST00000550208	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.985;0.999;0.999	.|D;D;D	.|0.79108	.|0.946;0.99;0.992	T|T	0.79095|0.79095	-0.1944|-0.1944	6|9	0.87932|0.72032	D|D	0|0.01	.|.	16.143|16.143	0.81539|0.81539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;206;233	.|F5H5Z7;Q92994-5;Q92994	.|.;.;TF3B_HUMAN	D|I	86|29;206;233;29;29;29;118;118;29;29;29	.|.	ENSP00000450258:A86D|ENSP00000329029:L118I	A|L	-|-	2|1	0|0	BRF1|BRF1	104766293|104766293	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.004000|0.004000	0.04260|0.04260	8.878000|8.878000	0.92393|0.92393	2.397000|2.397000	0.81536|0.81536	0.591000|0.591000	0.81541|0.81541	GCT|CTC		0.607	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		285	1058	1	0	7.76047e-84	1	9.93817e-84	285	1058				
C12orf49	79794	broad.mit.edu	37	12	117155658	117155658	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117155658T>G	ENST00000261318.3	-	5	735	c.575A>C	c.(574-576)aAg>aCg	p.K192T	C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T|C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	192						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ATAGCAATACTTTGCTATGGG	0.587																																						ENST00000261318.3																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(574-576)aAg>aCg		chromosome 12 open reading frame 49							53.0	44.0	47.0					12																	117155658		2203	4299	6502	SO:0001583	missense	79794					extracellular region		g.chr12:117155658T>G	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.575A>C	12.37:g.117155658T>G	ENSP00000261318:p.Lys192Thr					C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T|C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T	p.K192T	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0281)	5	735	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		192					Q53GE8	Missense_Mutation	SNP	ENST00000261318.3	37	c.575A>C	CCDS9179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.848629|4.848629	0.91277|0.91277	.|.	.|.	ENSG00000111412|ENSG00000111412	ENST00000261318;ENST00000548356;ENST00000536380|ENST00000547606	T|.	0.54675|.	0.56|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79203|0.79203	0.4406|0.4406	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.81944|0.81944	-0.0701|-0.0701	10|5	0.72032|.	D|.	0.01|.	-40.1457|-40.1457	15.6027|15.6027	0.76636|0.76636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	162;192|.	F5H6Y2;Q9H741|.	.;CL049_HUMAN|.	T|R	192;33;162|30	ENSP00000261318:K192T|.	ENSP00000261318:K192T|.	K|S	-|-	2|1	0|0	C12orf49|C12orf49	115640041|115640041	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	7.884000|7.884000	0.87274|0.87274	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	AAG|AGT		0.587	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	NM_024738		13	60	0	0	0	1	0	13	60				
ZNF219	51222	broad.mit.edu	37	14	21561402	21561402	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21561402C>T	ENST00000360947.3	-	3	465	c.54G>A	c.(52-54)ccG>ccA	p.P18P	ZNF219_ENST00000451119.2_Silent_p.P18P|ZNF219_ENST00000556101.1_5'Flank|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Silent_p.P18P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	18					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTCGAAAGCCGGCGGCGACG	0.647											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(52-54)ccG>ccA		zinc finger protein 219							11.0	12.0	12.0					14																	21561402		2158	4218	6376	SO:0001819	synonymous_variant	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21561402C>T	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.54G>A	14.37:g.21561402C>T			OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000421093.2_Silent_p.P18P|ZNF219_ENST00000451119.2_Silent_p.P18P	p.P18P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	465	-	all_cancers(95;0.00185)		18					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Silent	SNP	ENST00000360947.3	37	c.54G>A	CCDS9568.1																																																																																				0.647	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			30	104	0	0	0	1	0	30	104				
ZFYVE20	64145	broad.mit.edu	37	3	15118571	15118571	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15118571G>T	ENST00000253699.3	-	12	1712	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZFYVE20_ENST00000449964.2_5'Flank|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	367	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGCTTTACCTGCACAAAAAGT	0.478																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1099-1101)Cag>Aag		zinc finger, FYVE domain containing 20							160.0	149.0	152.0					3																	15118571		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15118571G>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1099C>A	3.37:g.15118571G>T	ENSP00000253699:p.Gln367Lys					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K	p.Q367K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			12	1712	-			367			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1099C>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733087	0.69189	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000418832	T;T	0.58210	0.35;0.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.36672	1.1	0.80722	D	1	P	0.44044	0.825	P	0.45856	0.495	T	0.48490	-0.9031	10	0.41790	T	0.15	-27.1303	20.2704	0.98474	0.0:0.0:1.0:0.0	.	367	Q9H1K0	RBNS5_HUMAN	K	367;367;69	ENSP00000253699:Q367K;ENSP00000422551:Q367K	ENSP00000253699:Q367K	Q	-	1	0	ZFYVE20	15093575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.617000	0.98361	2.793000	0.96121	0.591000	0.81541	CAG		0.478	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		60	264	1	0	1.69475e-38	1	2.04315e-38	60	264				
SCUBE1	80274	broad.mit.edu	37	22	43634902	43634902	+	Silent	SNP	G	G	A	rs140715405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43634902G>A	ENST00000360835.4	-	7	912	c.786C>T	c.(784-786)ggC>ggT	p.G262G	SCUBE1_ENST00000290460.7_Silent_p.G292G|Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	262	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCATCGCACGCCAGTGGCTG	0.602													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19685	0.0		0.0	False		,,,				2504	0.0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(784-786)ggC>ggT		signal peptide, CUB domain, EGF-like 1							66.0	53.0	57.0					22																	43634902		2202	4300	6502	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43634902G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.786C>T	22.37:g.43634902G>A						Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Silent_p.G292G	p.G262G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			7	912	-		all_neural(38;0.0414)|Ovarian(80;0.07)	262			EGF-like 5 (Potential).|EGF-like 6 (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.786C>T	CCDS14048.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.631|1.631	-0.518974|-0.518974	0.04171|0.04171	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000381243|ENST00000449304	.|.	.|.	.|.	5.5|5.5	-9.04|-9.04	0.00734|0.00734	.|.	.|.	.|.	.|.	.|.	T|T	0.32133|0.32133	0.0819|0.0819	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43988|0.43988	-0.9357|-0.9357	5|4	0.37606|.	T|.	0.19|.	.|.	0.8891|0.8891	0.01250|0.01250	0.4082:0.1552:0.1447:0.2919|0.4082:0.1552:0.1447:0.2919	.|.	.|.	.|.	.|.	V|C	55|116	.|.	ENSP00000370642:A55V|.	A|R	-|-	2|1	0|0	SCUBE1|SCUBE1	41964846|41964846	0.001000|0.001000	0.12720|0.12720	0.374000|0.374000	0.26016|0.26016	0.025000|0.025000	0.11179|0.11179	-1.629000|-1.629000	0.02029|0.02029	-1.170000|-1.170000	0.02769|0.02769	-2.103000|-2.103000	0.00360|0.00360	GCG|CGT		0.602	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		55	188	0	0	0	1	0	55	188				
SRMS	6725	broad.mit.edu	37	20	62178609	62178609	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178609G>T	ENST00000217188.1	-	1	248	c.208C>A	c.(208-210)Ctg>Atg	p.L70M		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	70	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGGACACTCAGCTCCCCGCCA	0.697																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(208-210)Ctg>Atg		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							113.0	116.0	115.0					20																	62178609		2191	4271	6462	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178609G>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.208C>A	20.37:g.62178609G>T	ENSP00000217188:p.Leu70Met						p.L70M	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	248	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		70			SH3.			Missense_Mutation	SNP	ENST00000217188.1	37	c.208C>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634775	0.47049	.	.	ENSG00000125508	ENST00000217188	T	0.70045	-0.45	4.09	2.04	0.26737	Src homology-3 domain (3);	0.000000	0.42053	D	0.000765	D	0.82287	0.5004	M	0.89840	3.065	0.36135	D	0.846384	D	0.89917	1.0	D	0.97110	1.0	D	0.86246	0.1646	10	0.87932	D	0	.	10.1426	0.42744	0.1726:0.0:0.8274:0.0	.	70	Q9H3Y6	SRMS_HUMAN	M	70	ENSP00000217188:L70M	ENSP00000217188:L70M	L	-	1	2	SRMS	61649053	1.000000	0.71417	0.918000	0.36340	0.103000	0.19146	4.716000	0.61916	0.678000	0.31325	0.491000	0.48974	CTG		0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		21	78	1	0	1.64293e-13	1	1.77503e-13	21	78				
NYX	60506	broad.mit.edu	37	X	41333654	41333654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41333654G>A	ENST00000342595.2	+	2	1404	c.948G>A	c.(946-948)gtG>gtA	p.V316V	NYX_ENST00000378220.1_Silent_p.V316V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	316					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GCCTCACCGTGCTCGCCTGGG	0.667																																						ENST00000342595.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(946-948)gtG>gtA		nyctalopin							44.0	41.0	42.0					X																	41333654		2203	4299	6502	SO:0001819	synonymous_variant	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333654G>A	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.948G>A	X.37:g.41333654G>A						NYX_ENST00000378220.1_Silent_p.V316V	p.V316V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1404	+			316					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	c.948G>A	CCDS14256.1																																																																																				0.667	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		98	264	0	0	0	1	0	98	264				
DNAH8	1769	broad.mit.edu	37	6	38743659	38743659	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38743659C>A	ENST00000359357.3	+	11	1497	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M	DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M|DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	415					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGACATTCTGGATCCAAG	0.294																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1243-1245)Ctg>Atg		dynein, axonemal, heavy chain 8							87.0	101.0	96.0					6																	38743659		2202	4284	6486	SO:0001583	missense	1769							g.chr6:38743659C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1243C>A	6.37:g.38743659C>A	ENSP00000352312:p.Leu415Met					DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M|DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M	p.L415M							11	1497	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1243C>A		.	.	.	.	.	.	.	.	.	.	C	17.00	3.277399	0.59758	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64618	-0.11;-0.11;-0.11	5.93	4.17	0.49024	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000007	T	0.71584	0.3357	M	0.81497	2.545	0.50313	D	0.999863	D	0.89917	1.0	D	0.97110	1.0	T	0.75451	-0.3313	10	0.59425	D	0.04	.	11.2443	0.48987	0.0:0.8568:0.0:0.1432	.	415	Q96JB1	DYH8_HUMAN	M	620;620;415;415	ENSP00000333363:L620M;ENSP00000352312:L415M;ENSP00000402294:L415M	ENSP00000333363:L620M	L	+	1	2	DNAH8	38851637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.555000	0.45854	0.866000	0.35629	-0.150000	0.13652	CTG		0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		73	438	1	0	5.72486e-32	1	6.75239e-32	73	438				
CORO1B	57175	broad.mit.edu	37	11	67205955	67205955	+	Missense_Mutation	SNP	C	C	A	rs150750630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67205955C>A	ENST00000341356.5	-	11	1472	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CORO1B_ENST00000393893.1_Missense_Mutation_p.E454D|CORO1B_ENST00000539724.1_5'UTR|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	454					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCATCACCTCCTCCAGCTTCC	0.677																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1360-1362)gaG>gaT		coronin, actin binding protein, 1B							30.0	32.0	31.0					11																	67205955		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67205955C>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1362G>T	11.37:g.67205955C>A	ENSP00000340211:p.Glu454Asp					CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.E454D	p.E454D	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1465	-			454					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.1362G>T	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272346	0.23221	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.61980	0.06;0.06	4.97	-3.5	0.04710	.	0.407209	0.18103	N	0.151625	T	0.32734	0.0839	N	0.17082	0.46	0.27748	N	0.944249	B	0.02656	0.0	B	0.10450	0.005	T	0.30534	-0.9975	10	0.08179	T	0.78	-16.5489	5.61	0.17400	0.0:0.213:0.279:0.508	.	454	Q9BR76	COR1B_HUMAN	D	454	ENSP00000377471:E454D;ENSP00000340211:E454D	ENSP00000340211:E454D	E	-	3	2	CORO1B	66962531	0.022000	0.18835	0.979000	0.43373	0.767000	0.43475	-0.983000	0.03759	-0.505000	0.06568	-0.232000	0.12228	GAG		0.677	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		53	275	1	0	2.22609e-26	1	2.56449e-26	53	275				
RGS14	10636	broad.mit.edu	37	5	176785034	176785034	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176785034G>T	ENST00000408923.3	+	1	197	c.9G>T	c.(7-9)ggG>ggT	p.G3G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	3					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATGCCAGGGAAGCCCAAGC	0.751																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(7-9)ggG>ggT		regulator of G-protein signaling 14							6.0	9.0	8.0					5																	176785034		1816	4007	5823	SO:0001819	synonymous_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176785034G>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.9G>T	5.37:g.176785034G>T							p.G3G	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	197	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	3					O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	c.9G>T	CCDS43405.1																																																																																				0.751	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		10	61	1	0	6.40141e-05	1	6.5221e-05	10	61				
TSSC1	7260	broad.mit.edu	37	2	3196197	3196197	+	Missense_Mutation	SNP	C	C	T	rs143356052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3196197C>T	ENST00000382125.4	-	8	1169	c.977G>A	c.(976-978)cGt>cAt	p.R326H	TSSC1_ENST00000398659.4_Missense_Mutation_p.R353H|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	326										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTCTTCAGAACGGTGGTCCTC	0.562													C|||	3	0.000599042	0.0	0.0	5008	,	,		21099	0.0		0.0	False		,,,				2504	0.0031				Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(1057-1059)cGt>cAt		tumor suppressing subtransferable candidate 1		C	HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	144.0	110.0	122.0		977	0.8	0.0	2	dbSNP_134	122	7,8593	5.7+/-21.5	0,7,4293	yes	missense	TSSC1	NM_003310.2	29	0,9,6493	TT,TC,CC		0.0814,0.0454,0.0692	benign	326/388	3196197	9,12995	2202	4300	6502	SO:0001583	missense	7260						protein binding	g.chr2:3196197C>T	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.977G>A	2.37:g.3196197C>T	ENSP00000371559:p.Arg326His					TSSC1_ENST00000382125.4_Missense_Mutation_p.R326H|TSSC1_ENST00000478754.1_5'UTR	p.R353H			Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	9	1198	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	326					D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.1058G>A	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439519	0.04636	4.54E-4	8.14E-4	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	D;D;T	0.83673	-1.69;-1.75;-1.22	5.55	0.785	0.18584	WD40/YVTN repeat-like-containing domain (1);	0.480333	0.26773	N	0.022580	T	0.49813	0.1579	N	0.00926	-1.1	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.39692	T	0.17	-0.7685	1.0524	0.01582	0.165:0.3348:0.1688:0.3314	.	326	Q53HC9	TSSC1_HUMAN	H	326;353;175	ENSP00000371559:R326H;ENSP00000381652:R353H;ENSP00000393350:R175H	ENSP00000371559:R326H	R	-	2	0	TSSC1	3175204	0.737000	0.28175	0.020000	0.16555	0.346000	0.29079	1.064000	0.30579	-0.083000	0.12618	-0.471000	0.05019	CGT		0.562	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		32	149	0	0	0	1	0	32	149				
FBXO42	54455	broad.mit.edu	37	1	16641844	16641844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16641844C>T	ENST00000375592.3	-	2	286	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	24										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCATTGTCCCTTCCAGCACA	0.498																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(70-72)Ggg>Agg		F-box protein 42							111.0	92.0	99.0					1																	16641844		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16641844C>T	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.70G>A	1.37:g.16641844C>T	ENSP00000364742:p.Gly24Arg					FBXO42_ENST00000478089.1_5'UTR	p.G24R	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	286	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	24					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.70G>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088870	0.76756	.	.	ENSG00000037637	ENST00000375592	T	0.05025	3.51	5.81	5.81	0.92471	.	0.197049	0.45867	D	0.000332	T	0.15609	0.0376	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.66056	D	0.02	-15.7317	19.0543	0.93056	0.0:1.0:0.0:0.0	.	24	Q6P3S6	FBX42_HUMAN	R	24	ENSP00000364742:G24R	ENSP00000364742:G24R	G	-	1	0	FBXO42	16514431	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.622000	0.74233	2.739000	0.93911	0.563000	0.77884	GGG		0.498	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			19	206	0	0	0	1	0	19	206				
SCUBE1	80274	broad.mit.edu	37	22	43614381	43614381	+	Missense_Mutation	SNP	G	G	A	rs150769460	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43614381G>A	ENST00000360835.4	-	15	1897	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	591					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AACTGCTGCCGGCCGATGGAC	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20575	0.0		0.001	False		,,,				2504	0.0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1771-1773)Cgg>Tgg		signal peptide, CUB domain, EGF-like 1		G	TRP/ARG	0,4406		0,0,2203	104.0	110.0	108.0		1771	3.2	1.0	22	dbSNP_134	108	20,8580	15.3+/-51.7	0,20,4280	yes	missense	SCUBE1	NM_173050.3	101	0,20,6483	AA,AG,GG		0.2326,0.0,0.1538	probably-damaging	591/989	43614381	20,12986	2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43614381G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1771C>T	22.37:g.43614381G>A	ENSP00000354080:p.Arg591Trp						p.R591W	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			15	1897	-		all_neural(38;0.0414)|Ovarian(80;0.07)	591					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1771C>T	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101396	0.76983	0.0	0.002326	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.86297	-2.1	4.29	3.2	0.36748	.	0.162750	0.52532	D	0.000063	D	0.88706	0.6509	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.89037	0.3446	10	0.87932	D	0	.	9.6957	0.40156	0.0:0.0:0.5699:0.4301	.	591	Q8IWY4	SCUB1_HUMAN	W	591;221	ENSP00000354080:R591W	ENSP00000354080:R591W	R	-	1	2	SCUBE1	41944325	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	1.520000	0.35899	2.215000	0.71742	0.558000	0.71614	CGG		0.652	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		148	762	0	0	0	1	0	148	762				
USP43	124739	broad.mit.edu	37	17	9631500	9631500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9631500C>T	ENST00000285199.7	+	15	2661	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.G850G	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	855					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGTTGACGGGCACTGCGGGTG	0.597																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(1630-1632)ggC>ggT		ubiquitin specific peptidase 43							44.0	49.0	48.0					17																	9631500		2112	4223	6335	SO:0001819	synonymous_variant	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631500C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2565C>T	17.37:g.9631500C>T						USP43_ENST00000570475.1_Silent_p.G850G|USP43_ENST00000285199.6_Silent_p.G855G	p.G544G			Q70EL4	UBP43_HUMAN			15	2706	+			855					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	c.1632C>T	CCDS45610.1																																																																																				0.597	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		39	128	0	0	0	1	0	39	128				
ADAMTSL1	92949	broad.mit.edu	37	9	18721548	18721548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18721548G>A	ENST00000380548.4	+	15	2230	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V631M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	631	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAGGAGGCTGTGGTGAGCTG	0.587																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1891-1893)Gtg>Atg		ADAMTS-like 1							98.0	100.0	99.0					9																	18721548		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18721548G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1891G>A	9.37:g.18721548G>A	ENSP00000369921:p.Val631Met					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V631M	p.V631M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	15	2230	+			631			TSP type-1 5.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1891G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121444	0.77436	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.61392	0.11;0.11	5.86	5.86	0.93980	.	.	.	.	.	T	0.63733	0.2536	L	0.39020	1.185	0.80722	D	1	D	0.69078	0.997	D	0.63877	0.919	T	0.60031	-0.7342	9	0.35671	T	0.21	.	13.052	0.58960	0.0739:0.0:0.9261:0.0	.	631	Q8N6G6	ATL1_HUMAN	M	631	ENSP00000369921:V631M;ENSP00000276935:V631M	ENSP00000276935:V631M	V	+	1	0	ADAMTSL1	18711548	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.476000	0.73587	2.774000	0.95407	0.650000	0.86243	GTG		0.587	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			30	555	0	0	0	1	0	30	555				
SCYL1	57410	broad.mit.edu	37	11	65300199	65300199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65300199G>T	ENST00000270176.5	+	9	1230	c.1153G>T	c.(1153-1155)Gtc>Ttc	p.V385F	SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F|SCYL1_ENST00000524944.1_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	385					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CGAGCCAACAGTCAACACCCA	0.592																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1153-1155)Gtc>Ttc		SCY1-like 1 (S. cerevisiae)							107.0	124.0	118.0					11																	65300199		2161	4252	6413	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65300199G>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1153G>T	11.37:g.65300199G>T	ENSP00000270176:p.Val385Phe					SCYL1_ENST00000527630.1_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F|SCYL1_ENST00000270176.5_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F	p.V385F			Q96KG9	NTKL_HUMAN			9	1186	+			385					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1153G>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689093	0.68271	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	4.18	4.18	0.49190	Armadillo-like helical (1);Armadillo-type fold (1);	0.138171	0.47852	D	0.000220	T	0.48960	0.1529	M	0.88241	2.94	0.80722	D	1	B;D;P;B;P	0.60160	0.228;0.987;0.516;0.399;0.774	B;P;B;B;B	0.61397	0.15;0.888;0.373;0.287;0.271	T	0.61118	-0.7127	10	0.87932	D	0	-11.1604	14.353	0.66716	0.0:0.0:1.0:0.0	.	385;385;385;385;385	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	F	385;385;385;385;385;385;385;385;242	ENSP00000270176:V385F;ENSP00000431635:V385F;ENSP00000408192:V385F;ENSP00000437254:V385F;ENSP00000433450:V385F;ENSP00000279270:V385F;ENSP00000432175:V385F;ENSP00000436993:V242F	ENSP00000270176:V385F	V	+	1	0	SCYL1	65056775	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.470000	0.90399	2.074000	0.62210	0.462000	0.41574	GTC		0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		42	194	1	0	8.48111e-28	1	9.83746e-28	42	194				
LAMA1	284217	broad.mit.edu	37	18	6943388	6943388	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6943388A>G	ENST00000389658.3	-	62	8951	c.8858T>C	c.(8857-8859)gTc>gCc	p.V2953A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2953	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCATTGTTGACATGGAACAA	0.408																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8857-8859)gTc>gCc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141.0	127.0	132.0					18																	6943388		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943388A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8858T>C	18.37:g.6943388A>G	ENSP00000374309:p.Val2953Ala						p.V2953A	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			62	8951	-		Colorectal(10;0.172)	2953			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8858T>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933569	0.73442	.	.	ENSG00000101680	ENST00000389658	T	0.76578	-1.03	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	D	0.000004	D	0.85465	0.5703	L	0.60845	1.875	0.46078	D	0.998851	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.917	D	0.84686	0.0720	10	0.37606	T	0.19	.	15.5018	0.75705	1.0:0.0:0.0:0.0	.	2953;283	P25391;B3KSD8	LAMA1_HUMAN;.	A	2953	ENSP00000374309:V2953A	ENSP00000374309:V2953A	V	-	2	0	LAMA1	6933388	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.146000	0.77373	2.073000	0.62155	0.456000	0.33151	GTC		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		64	271	0	0	0	1	0	64	271				
KRTAP4-5	85289	broad.mit.edu	37	17	39305727	39305727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305727G>A	ENST00000343246.4	-	1	327	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	98	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			acagcagctggggcagcagca	0.662																																						ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(292-294)cCc>cTc		keratin associated protein 4-5							20.0	25.0	23.0					17																	39305727		2170	4246	6416	SO:0001583	missense	85289					keratin filament		g.chr17:39305727G>A	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.293C>T	17.37:g.39305727G>A	ENSP00000340546:p.Pro98Leu						p.P98L	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	327	-		Breast(137;0.000496)	103			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.293C>T	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.941052	0.53079	.	.	ENSG00000198271	ENST00000343246	T	0.02216	4.39	4.08	4.08	0.47627	.	0.729752	0.11113	U	0.598308	T	0.13500	0.0327	M	0.92367	3.3	0.22034	N	0.999404	P	0.48089	0.905	P	0.52823	0.71	T	0.04664	-1.0935	10	0.87932	D	0	.	14.1354	0.65284	0.0:0.0:1.0:0.0	.	103	Q9BYR2	KRA45_HUMAN	L	98	ENSP00000340546:P98L	ENSP00000340546:P98L	P	-	2	0	KRTAP4-5	36559253	0.994000	0.37717	0.084000	0.20598	0.608000	0.37181	2.373000	0.44266	2.243000	0.73865	0.561000	0.74099	CCC		0.662	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			9	289	0	0	0	1	0	9	289				
DDIAS	220042	broad.mit.edu	37	11	82639965	82639965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82639965C>T	ENST00000533655.1	+	4	472	c.260C>T	c.(259-261)gCc>gTc	p.A87V	C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		87					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GGTCTTACTGCCACTGGTTTG	0.313																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(259-261)gCc>gTc		chromosome 11 open reading frame 82							120.0	119.0	119.0					11																	82639965		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82639965C>T																												ENST00000533655.1:c.260C>T	11.37:g.82639965C>T	ENSP00000435421:p.Ala87Val					C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V	p.A87V	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			4	472	+			87					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.260C>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431538	0.83776	.	.	ENSG00000165490	ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000525388;ENST00000528262	T;T	0.53857	0.6;0.6	5.75	4.83	0.62350	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.111999	0.64402	D	0.000011	T	0.73241	0.3562	M	0.81239	2.535	0.41499	D	0.988277	D;D	0.89917	0.983;1.0	P;D	0.68192	0.808;0.956	T	0.77148	-0.2694	9	.	.	.	.	16.8517	0.85996	0.0:0.8715:0.1285:0.0	.	87;87	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	V	87;87;87;87;148;87;87	ENSP00000414687:A87V;ENSP00000435421:A87V	.	A	+	2	0	C11orf82	82317613	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.673000	0.68109	1.406000	0.46857	0.557000	0.71058	GCC		0.313	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			64	317	0	0	0	1	0	64	317				
HHIP	64399	broad.mit.edu	37	4	145573905	145573905	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145573905A>G	ENST00000296575.3	+	2	1083	c.428A>G	c.(427-429)gAc>gGc	p.D143G	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.D143G	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	143					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCTGCAAAGACTATTGCAAA	0.393																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(427-429)gAc>gGc		hedgehog interacting protein							121.0	130.0	127.0					4																	145573905		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145573905A>G	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.428A>G	4.37:g.145573905A>G	ENSP00000296575:p.Asp143Gly					HHIP_ENST00000434550.2_Missense_Mutation_p.D143G|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	p.D143G	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	2	1083	+	all_hematologic(180;0.151)		143					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.428A>G	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839939	0.91117	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.78924	-1.22;-1.22	5.83	5.83	0.93111	Folate receptor-like (1);	0.043571	0.85682	D	0.000000	D	0.86781	0.6015	M	0.74881	2.28	0.80722	D	1	D;B	0.61697	0.99;0.291	D;B	0.63113	0.911;0.091	D	0.87923	0.2705	10	0.62326	D	0.03	-27.2646	16.2127	0.82178	1.0:0.0:0.0:0.0	.	143;143	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	G	143	ENSP00000296575:D143G;ENSP00000408587:D143G	ENSP00000296575:D143G	D	+	2	0	HHIP	145793355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.236000	0.73375	0.533000	0.62120	GAC		0.393	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			84	471	0	0	0	1	0	84	471				
LAMA5	3911	broad.mit.edu	37	20	60921612	60921612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60921612C>T	ENST00000252999.3	-	9	1298	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	LAMA5_ENST00000370677.3_Missense_Mutation_p.G411D|LAMA5_ENST00000370692.3_Missense_Mutation_p.G411D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	411	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCGGTAGAAGCCGGGCAGGCA	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1231-1233)gGc>gAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						64.0	75.0	71.0					20																	60921612		2145	4209	6354	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60921612C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1232G>A	20.37:g.60921612C>T	ENSP00000252999:p.Gly411Asp					LAMA5_ENST00000370677.3_Missense_Mutation_p.G411D|LAMA5_ENST00000370692.3_Missense_Mutation_p.G411D	p.G411D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		9	1298	-	Breast(26;1.57e-08)		411			Laminin EGF-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.1232G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942024	0.73557	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.66995	-0.24;-0.24;-0.24	4.63	4.63	0.57726	EGF-like, laminin (4);	0.111433	0.64402	D	0.000009	D	0.85902	0.5805	M	0.92970	3.365	0.54753	D	0.999987	D	0.89917	1.0	D	0.80764	0.994	D	0.89939	0.4071	10	0.72032	D	0.01	.	17.4691	0.87641	0.0:1.0:0.0:0.0	.	411	O15230	LAMA5_HUMAN	D	411	ENSP00000252999:G411D;ENSP00000359726:G411D;ENSP00000359711:G411D	ENSP00000252999:G411D	G	-	2	0	LAMA5	60355007	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	3.287000	0.51732	2.117000	0.64856	0.561000	0.74099	GGC		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		6	42	0	0	0	1	0	6	42				
AOC3	8639	broad.mit.edu	37	17	41004414	41004414	+	Missense_Mutation	SNP	G	G	A	rs150410758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004414G>A	ENST00000308423.2	+	1	1214	c.1054G>A	c.(1054-1056)Gtt>Att	p.V352I	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	352					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GATCTTTGACGTTCGCTTCCA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19346	0.001		0.0	False		,,,				2504	0.0				NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(1054-1056)Gtt>Att		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)	G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	70.0	68.0	68.0		1054	-1.3	0.9	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	AOC3	NM_003734.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	352/764	41004414	3,13003	2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004414G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1054G>A	17.37:g.41004414G>A	ENSP00000312326:p.Val352Ile						p.V352I	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1214	+		Breast(137;0.000143)	352					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1054G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	3.352	-0.132261	0.06753	6.81E-4	0.0	ENSG00000131471	ENST00000308423	T	0.04360	3.64	4.4	-1.33	0.09172	Copper amine oxidase, C-terminal (3);	0.348573	0.27896	N	0.017406	T	0.01523	0.0049	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49934	-0.8886	10	0.06757	T	0.87	.	5.6195	0.17450	0.5422:0.1375:0.3203:0.0	.	352	Q16853	AOC3_HUMAN	I	352	ENSP00000312326:V352I	ENSP00000312326:V352I	V	+	1	0	AOC3	38257940	0.307000	0.24500	0.895000	0.35142	0.774000	0.43823	0.083000	0.14871	-0.216000	0.10048	0.591000	0.81541	GTT		0.542	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		69	301	0	0	0	1	0	69	301				
XAB2	56949	broad.mit.edu	37	19	7687725	7687725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687725G>T	ENST00000358368.4	-	10	1331	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	432					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACGCTTGCCAGGTCATCCACC	0.647								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1294-1296)Ctg>Atg	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							77.0	59.0	65.0					19																	7687725		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687725G>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1294C>A	19.37:g.7687725G>T	ENSP00000351137:p.Leu432Met					XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	p.L432M	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			10	1331	-			432					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1294C>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828483	0.71258	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.18960	2.18;2.18	5.36	2.88	0.33553	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000004	T	0.51346	0.1669	M	0.92169	3.28	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.59857	-0.7375	10	0.87932	D	0	-22.9572	9.4517	0.38729	0.2587:0.0:0.7413:0.0	.	432	Q9HCS7	SYF1_HUMAN	M	432;429	ENSP00000351137:L432M;ENSP00000438225:L429M	ENSP00000351137:L432M	L	-	1	2	XAB2	7593725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.783000	0.55409	1.276000	0.44395	-0.140000	0.14226	CTG		0.647	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		13	185	1	0	7.03913e-09	1	7.37812e-09	13	185				
LRRC48	83450	broad.mit.edu	37	17	17907797	17907797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17907797G>A	ENST00000399187.1	+	10	1338	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K|LRRC48_ENST00000313838.8_Missense_Mutation_p.E374K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	374						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GCAGCTGGTGGAGCAGCTGGA	0.552																																						ENST00000313838.8																			0				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7						c.(1120-1122)Gag>Aag		leucine rich repeat containing 48							61.0	61.0	61.0					17																	17907797		2151	4267	6418	SO:0001583	missense	83450					cytoplasm		g.chr17:17907797G>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1120G>A	17.37:g.17907797G>A	ENSP00000382140:p.Glu374Lys					LRRC48_ENST00000399187.1_Missense_Mutation_p.E374K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K	p.E374K	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN			11	1499	+	all_neural(463;0.228)		374					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.1120G>A	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311348	0.95655	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.26	5.26	0.73747	.	0.270549	0.41605	N	0.000849	T	0.52256	0.1723	M	0.76838	2.35	0.80722	D	1	P;P	0.45283	0.773;0.855	B;B	0.41510	0.127;0.359	T	0.54596	-0.8270	10	0.23891	T	0.37	-29.2984	17.6257	0.88093	0.0:0.0:1.0:0.0	.	374;374	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	374	ENSP00000326870:E374K;ENSP00000394020:E374K;ENSP00000382140:E374K;ENSP00000382136:E374K	ENSP00000326870:E374K	E	+	1	0	LRRC48	17848522	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.917000	0.63369	2.432000	0.82394	0.655000	0.94253	GAG		0.552	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		12	63	0	0	0	1	0	12	63				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																0							g.chr2:95522727C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	302	1	0	4.3838e-07	1	4.54049e-07	6	302				
POGLUT1	56983	broad.mit.edu	37	3	119211264	119211264	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119211264A>C	ENST00000295588.4	+	11	1242	c.1158A>C	c.(1156-1158)aaA>aaC	p.K386N		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	386					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TTATTCCCAAAATGTTGAAAA	0.383																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(1156-1158)aaA>aaC		protein O-glucosyltransferase 1							90.0	88.0	89.0					3																	119211264		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119211264A>C	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.1158A>C	3.37:g.119211264A>C	ENSP00000295588:p.Lys386Asn						p.K386N	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			11	1242	+			386					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.1158A>C	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308750	0.60305	.	.	ENSG00000163389	ENST00000295588	T	0.23552	1.9	5.97	4.78	0.61160	.	0.308341	0.40818	N	0.001016	T	0.21801	0.0525	L	0.36672	1.1	0.27158	N	0.961245	B	0.31459	0.324	B	0.34038	0.174	T	0.18304	-1.0341	10	0.62326	D	0.03	-4.1653	10.3779	0.44092	0.8369:0.1631:0.0:0.0	.	386	Q8NBL1	PGLT1_HUMAN	N	386	ENSP00000295588:K386N	ENSP00000295588:K386N	K	+	3	2	POGLUT1	120693954	1.000000	0.71417	0.889000	0.34880	0.971000	0.66376	4.685000	0.61693	2.288000	0.76882	0.533000	0.62120	AAA		0.383	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		46	213	0	0	0	1	0	46	213				
SLC7A4	6545	broad.mit.edu	37	22	21385522	21385522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21385522G>T	ENST00000382932.2	-	2	647	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	194					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTGATTGAGCCAGGAGGAC	0.612																																						ENST00000382932.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(580-582)Ctc>Atc		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						62.0	59.0	60.0					22																	21385522		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385522G>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.580C>A	22.37:g.21385522G>T	ENSP00000372390:p.Leu194Ile					SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I	p.L194I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	647	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	194					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.580C>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230520	0.39399	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89552	-2.53;-2.53	5.28	1.93	0.25924	Amino acid permease domain (1);	0.204067	0.43110	D	0.000606	D	0.84543	0.5495	L	0.49455	1.56	0.42349	D	0.992363	B	0.25609	0.13	B	0.32211	0.142	T	0.76315	-0.3004	10	0.33940	T	0.23	.	9.0405	0.36314	0.0785:0.279:0.6425:0.0	.	194	O43246	CTR4_HUMAN	I	194	ENSP00000384278:L194I;ENSP00000372390:L194I	ENSP00000372390:L194I	L	-	1	0	SLC7A4	19715522	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.135000	0.64777	0.288000	0.22398	-0.258000	0.10820	CTC		0.612	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		59	236	1	0	7.50695e-29	1	8.75429e-29	59	236				
ALS2	57679	broad.mit.edu	37	2	202625825	202625825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202625825C>A	ENST00000264276.6	-	4	1264	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ALS2_ENST00000496244.1_5'Flank|ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	298					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACAGACTGATCATTTGCTACA	0.458																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(892-894)Gat>Tat		amyotrophic lateral sclerosis 2 (juvenile)							175.0	165.0	168.0					2																	202625825		2052	4212	6264	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202625825C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.892G>T	2.37:g.202625825C>A	ENSP00000264276:p.Asp298Tyr					ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y	p.D298Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	1264	-			298					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.892G>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184637	0.38609	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.57907	0.37;0.72	6.17	3.3	0.37823	.	1.271760	0.05014	N	0.471553	T	0.38772	0.1053	N	0.22421	0.69	0.20873	N	0.999837	P;B;B;B	0.37636	0.603;0.091;0.016;0.0	B;B;B;B	0.33042	0.157;0.029;0.009;0.0	T	0.35425	-0.9789	10	0.66056	D	0.02	.	6.7842	0.23664	0.0:0.6066:0.2313:0.1621	.	298;298;298;298	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	Y	298	ENSP00000264276:D298Y;ENSP00000429223:D298Y	ENSP00000264276:D298Y	D	-	1	0	ALS2	202334070	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.189000	0.32114	0.951000	0.37770	0.655000	0.94253	GAT		0.458	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		187	601	1	0	5.0888e-88	1	6.52675e-88	187	601				
NBPF3	84224	broad.mit.edu	37	1	21771700	21771700	+	Nonsense_Mutation	SNP	C	C	T	rs371433372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21771700C>T	ENST00000318249.5	+	2	471	c.121C>T	c.(121-123)Cga>Tga	p.R41*	NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	41						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAAGAGCTGCGAGATCCAAC	0.537																																						ENST00000318249.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(121-123)Cga>Tga		neuroblastoma breakpoint family, member 3		C	stop/ARG	0,4406		0,0,2203	41.0	42.0	42.0		121	0.7	0.0	1		42	1,8599		0,1,4299	no	stop-gained	NBPF3	NM_032264.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		41/634	21771700	1,13005	2203	4300	6503	SO:0001587	stop_gained	84224					cytoplasm		g.chr1:21771700C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.121C>T	1.37:g.21771700C>T	ENSP00000316782:p.Arg41*					NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*|NBPF3_ENST00000318220.6_5'UTR	p.R41*	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	471	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	41					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Nonsense_Mutation	SNP	ENST00000318249.5	37	c.121C>T	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	33	5.226067	0.95173	0.0	1.16E-4	ENSG00000142794	ENST00000454000;ENST00000318249;ENST00000342104	.	.	.	0.717	0.717	0.18196	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.8957	0.13749	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000316782:R41X	R	+	1	2	NBPF3	21644287	0.029000	0.19370	0.008000	0.14137	0.311000	0.27955	0.522000	0.22909	0.712000	0.32039	0.271000	0.19318	CGA		0.537	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		13	197	0	0	0	1	0	13	197				
IGLC7	28834	broad.mit.edu	37	22	23264792	23264792	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23264792A>G	ENST00000390331.2	+	0	27				IGLJ7_ENST00000390330.2_RNA			A0M8Q6	LAC7_HUMAN	immunoglobulin lambda constant 7						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCCCTCGGTCACTCTGTTCCC	0.627																																						ENST00000390331.1																			0																				53.0	57.0	56.0					22																	23264792		2185	4278	6463			0							g.chr22:23264792A>G	X51755		22q11.2	2012-02-08			ENSG00000211685	ENSG00000211685		"""Immunoglobulins / IGL locus"""	5861	other	immunoglobulin gene							Standard	NG_000002		Approved			A0M8Q6	OTTHUMG00000151017		22.37:g.23264792A>G														0	27	+									RNA	SNP	ENST00000390331.2	37																																																																																						0.627	IGLC7-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000320966.4	NG_000002		34	273	0	0	0	1	0	34	273				
HIST1H2BG	8339	broad.mit.edu	37	6	26216590	26216590	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216590C>T	ENST00000244601.3	-	1	282	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGTCTGGATCTCCCTGGAGG	0.562																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(280-282)gaG>gaA		histone cluster 1, H2bg							95.0	95.0	95.0					6																	26216590		2203	4300	6503	SO:0001819	synonymous_variant	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216590C>T	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.282G>A	6.37:g.26216590C>T							p.E94E	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	282	-		all_hematologic(11;0.196)	94					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000244601.3	37	c.282G>A	CCDS4594.1																																																																																				0.562	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		126	568	0	0	0	1	0	126	568				
TTYH1	57348	broad.mit.edu	37	19	54932493	54932493	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54932493T>C	ENST00000376530.3	+	3	451	c.348T>C	c.(346-348)agT>agC	p.S116S	TTYH1_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000301194.4_Silent_p.S116S	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	116					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGAGACCAGTGATGGGGTGT	0.637																																						ENST00000301194.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(346-348)agT>agC		tweety family member 1							123.0	101.0	108.0					19																	54932493		2203	4300	6503	SO:0001819	synonymous_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54932493T>C	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.348T>C	19.37:g.54932493T>C						TTYH1_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000376530.3_Silent_p.S116S	p.S116S			Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	3	470	+	Ovarian(34;0.19)		116					B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	37	c.348T>C	CCDS12893.1																																																																																				0.637	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			61	306	0	0	0	1	0	61	306				
ZNF668	79759	broad.mit.edu	37	16	31075549	31075549	+	Missense_Mutation	SNP	C	C	T	rs202118331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31075549C>T	ENST00000538906.1	-	2	1016	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000300849.4_Missense_Mutation_p.A78T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTTGGCCGCGGAGCCTGAC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16384	0.0		0.0	False		,,,				2504	0.0				Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(232-234)Gcg>Acg		zinc finger protein 668							80.0	73.0	75.0					16																	31075549		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075549C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.232G>A	16.37:g.31075549C>T	ENSP00000440149:p.Ala78Thr					ZNF668_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000300849.4_Missense_Mutation_p.A78T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T	p.A78T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	1016	-			78					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.232G>A	CCDS10701.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.950	0.967889	0.18659	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000442862;ENST00000417935	T;T;T;T;T;T;T	0.46819	3.21;3.22;3.22;3.22;3.22;3.1;0.86	4.77	2.63	0.31362	.	0.424966	0.22156	N	0.063841	T	0.29588	0.0738	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31998	-0.9923	10	0.66056	D	0.02	-14.7359	10.7323	0.46104	0.1533:0.7108:0.1359:0.0	.	78	Q96K58	ZN668_HUMAN	T	101;78;78;78;78;78;78	ENSP00000442573:A101T;ENSP00000441349:A78T;ENSP00000440149:A78T;ENSP00000378434:A78T;ENSP00000300849:A78T;ENSP00000416853:A78T;ENSP00000390671:A78T	ENSP00000300849:A78T	A	-	1	0	ZNF668	30983050	0.004000	0.15560	0.009000	0.14445	0.057000	0.15508	1.151000	0.31651	1.324000	0.45282	0.561000	0.74099	GCG		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		13	397	0	0	0	1	0	13	397				
KCNV2	169522	broad.mit.edu	37	9	2718157	2718157	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2718157G>A	ENST00000382082.3	+	1	656	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	140					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AAGCCTGTGCGACGACTACGA	0.637																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(418-420)Gac>Aac		potassium channel, subfamily V, member 2							18.0	18.0	18.0					9																	2718157		2200	4294	6494	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718157G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.418G>A	9.37:g.2718157G>A	ENSP00000371514:p.Asp140Asn						p.D140N	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	656	+			140					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.418G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875721	0.91664	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.77620	-1.11	5.07	5.07	0.68467	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91901	0.7436	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94262	0.7503	10	0.72032	D	0.01	.	18.4533	0.90711	0.0:0.0:1.0:0.0	.	140	Q8TDN2	KCNV2_HUMAN	N	140	ENSP00000371514:D140N	ENSP00000371514:D140N	D	+	1	0	KCNV2	2708157	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	9.855000	0.99526	2.352000	0.79861	0.462000	0.41574	GAC		0.637	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		18	79	0	0	0	1	0	18	79				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862899	10862899	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10862899G>A	ENST00000559480.1	+	0	195							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AAGGGCTTGAGTGGATGGGAT	0.557																																						ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26															215.0	208.0	211.0					21																	10862899		2162	4259	6421			0							g.chr21:10862899G>A			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862899G>A														0	195	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.557	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		100	1243	0	0	0	1	0	100	1243				
TRIM63	84676	broad.mit.edu	37	1	26380400	26380400	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26380400T>G	ENST00000374272.3	-	8	1173	c.1035A>C	c.(1033-1035)acA>acC	p.T345T		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	345					cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCCCTTCTGTGGACTCTT	0.428																																						ENST00000374272.3																			0				kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1033-1035)acA>acC		tripartite motif containing 63, E3 ubiquitin protein ligase							285.0	234.0	251.0					1																	26380400		2203	4300	6503	SO:0001819	synonymous_variant	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26380400T>G	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.1035A>C	1.37:g.26380400T>G							p.T345T	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	1173	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	345					B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Silent	SNP	ENST00000374272.3	37	c.1035A>C	CCDS273.1																																																																																				0.428	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		9	441	0	0	0	1	0	9	441				
OR7G3	390883	broad.mit.edu	37	19	9236904	9236904	+	Silent	SNP	G	G	A	rs143566600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9236904G>A	ENST00000305444.2	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGACCCGCAGATGGAAA	0.443																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(721-723)tgC>tgT		olfactory receptor, family 7, subfamily G, member 3		G		0,4406		0,0,2203	99.0	101.0	100.0		723	-0.7	0.6	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR7G3	NM_001001958.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		241/313	9236904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9236904G>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.723C>T	19.37:g.9236904G>A							p.C241C	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	722	-			241					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.723C>T	CCDS32899.1																																																																																				0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			28	588	0	0	0	1	0	28	588				
MOGAT3	346606	broad.mit.edu	37	7	100843573	100843573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100843573G>A	ENST00000223114.4	-	3	396	c.230C>T	c.(229-231)tCg>tTg	p.S77L	MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	77					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TATCCACTCCGAACGCCTTCC	0.567																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(229-231)tCg>tTg		monoacylglycerol O-acyltransferase 3							172.0	166.0	168.0					7																	100843573		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100843573G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.230C>T	7.37:g.100843573G>A	ENSP00000223114:p.Ser77Leu					MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L	p.S77L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			3	396	-	Lung NSC(181;0.168)|all_lung(186;0.215)		77					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.230C>T	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404648	0.25378	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.15139	2.45;2.45;2.45	4.65	-9.31	0.00646	.	1.276940	0.05401	N	0.540645	T	0.07999	0.0200	L	0.47716	1.5	0.09310	N	1	P;P	0.48162	0.906;0.676	B;B	0.37047	0.24;0.09	T	0.31052	-0.9957	10	0.11182	T	0.66	15.0773	1.1156	0.01714	0.305:0.2917:0.0947:0.3086	.	77;77	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	L	77	ENSP00000223114:S77L;ENSP00000403756:S77L;ENSP00000368734:S77L	ENSP00000223114:S77L	S	-	2	0	MOGAT3	100630293	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.916000	0.04029	-2.266000	0.00687	-0.189000	0.12847	TCG		0.567	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		105	885	0	0	0	1	0	105	885				
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202150030C>T	ENST00000432109.2	+	9	1483	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R491*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			4	Substitution - Nonsense(4)	p.R449*(2)|p.R491*(2)	large_intestine(4)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1471-1473)Cga>Tga		caspase 8, apoptosis-related cysteine peptidase							88.0	79.0	82.0					2																	202150030		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202150030C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1294C>T	2.37:g.202150030C>T	ENSP00000412523:p.Arg432*	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*	p.R491*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1667	+			432					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1471C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854011	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	-0.0641	0.13774	.	0.491720	0.23362	N	0.049019	.	.	.	.	.	.	0.33432	D	0.581203	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7959	0.08738	0.4714:0.3404:0.0731:0.1151	.	.	.	.	X	417;348;432;449;491;417;211	.	ENSP00000264274:R348X	R	+	1	2	CASP8	201858275	0.981000	0.34729	0.997000	0.53966	0.724000	0.41520	0.848000	0.27710	0.348000	0.23949	-0.314000	0.08810	CGA		0.507	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		96	298	0	0	0	1	0	96	298				
SYNGR4	23546	broad.mit.edu	37	19	48879469	48879469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48879469A>G	ENST00000344846.2	+	5	849	c.599A>G	c.(598-600)aAc>aGc	p.N200S	SYNGR4_ENST00000601610.1_3'UTR|SYNGR4_ENST00000595322.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	200						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCCCTGTGAACATGCCCACC	0.607																																						ENST00000344846.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(598-600)aAc>aGc		synaptogyrin 4							158.0	120.0	133.0					19																	48879469		2203	4300	6503	SO:0001583	missense	23546					integral to membrane		g.chr19:48879469A>G	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.599A>G	19.37:g.48879469A>G	ENSP00000344041:p.Asn200Ser					SYNGR4_ENST00000595322.1_3'UTR|SYNGR4_ENST00000601610.1_3'UTR	p.N200S	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	5	849	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	200					Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	c.599A>G	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	A	1.842	-0.467137	0.04476	.	.	ENSG00000105467	ENST00000344846	T	0.45276	0.9	5.51	-0.499	0.12015	.	1.158960	0.06182	N	0.679615	T	0.28466	0.0704	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.22661	-1.0210	10	0.17832	T	0.49	-32.1086	5.5627	0.17152	0.4274:0.2954:0.2771:0.0	.	200	O95473	SNG4_HUMAN	S	200	ENSP00000344041:N200S	ENSP00000344041:N200S	N	+	2	0	SYNGR4	53571281	0.039000	0.19947	0.002000	0.10522	0.031000	0.12232	0.555000	0.23422	-0.075000	0.12798	0.454000	0.30748	AAC		0.607	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			8	456	0	0	0	1	0	8	456				
STAR	6770	broad.mit.edu	37	8	38006257	38006257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006257G>A	ENST00000276449.4	-	2	526	c.80C>T	c.(79-81)gCt>gTt	p.A27V	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	27					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGCCATCACAGCCTGTTGCCT	0.602																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(79-81)gCt>gTt		steroidogenic acute regulatory protein							31.0	34.0	33.0					8																	38006257		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38006257G>A	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.80C>T	8.37:g.38006257G>A	ENSP00000276449:p.Ala27Val						p.A27V	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	526	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	27					Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.80C>T	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169796	0.78452	.	.	ENSG00000147465	ENST00000276449	D	0.91295	-2.82	5.28	5.28	0.74379	.	0.046597	0.85682	D	0.000000	D	0.94699	0.8290	M	0.81112	2.525	0.80722	D	1	D	0.56968	0.978	P	0.57468	0.821	D	0.95149	0.8271	10	0.87932	D	0	-11.4038	19.2762	0.94032	0.0:0.0:1.0:0.0	.	27	P49675	STAR_HUMAN	V	27	ENSP00000276449:A27V	ENSP00000276449:A27V	A	-	2	0	STAR	38125414	1.000000	0.71417	0.098000	0.21074	0.326000	0.28443	8.819000	0.91997	2.630000	0.89119	0.462000	0.41574	GCT		0.602	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		30	184	0	0	0	1	0	30	184				
SLC25A11	8402	broad.mit.edu	37	17	4841499	4841499	+	Silent	SNP	G	G	A	rs200653286		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841499G>A	ENST00000225665.7	-	6	1027	c.687C>T	c.(685-687)agC>agT	p.S229S	RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.S178S|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	229					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGACAAGACCGCTGATCATGC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18484	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(685-687)agC>agT		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							50.0	48.0	49.0					17																	4841499		2202	4300	6502	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841499G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.687C>T	17.37:g.4841499G>A						SLC25A11_ENST00000544061.2_Silent_p.S178S	p.S229S	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN			6	1027	-			229					F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.687C>T	CCDS11059.1																																																																																				0.622	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		6	231	0	0	0	1	0	6	231				
ZNF445	353274	broad.mit.edu	37	3	44488939	44488939	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44488939A>G	ENST00000396077.2	-	8	2571	c.2224T>C	c.(2224-2226)Tct>Cct	p.S742P	ZNF445_ENST00000425708.2_Missense_Mutation_p.S742P	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	742					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGACTAAAAGATGGCCCGCCC	0.493																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2224-2226)Tct>Cct		zinc finger protein 445							93.0	96.0	95.0					3																	44488939		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488939A>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2224T>C	3.37:g.44488939A>G	ENSP00000379387:p.Ser742Pro					ZNF445_ENST00000396077.2_Missense_Mutation_p.S742P	p.S742P			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2565	-			742					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2224T>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	a	6.331	0.429117	0.11987	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.07114	3.22;3.22	3.49	-1.7	0.08159	.	0.978073	0.08342	N	0.960721	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.42275	-0.9461	10	0.54805	T	0.06	.	4.0757	0.09902	0.5766:0.0:0.2754:0.148	.	730;742	B7ZKX2;P59923	.;ZN445_HUMAN	P	742	ENSP00000413073:S742P;ENSP00000379387:S742P	ENSP00000379387:S742P	S	-	1	0	ZNF445	44463943	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-1.272000	0.02826	-0.315000	0.08703	0.255000	0.18592	TCT		0.493	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		60	453	0	0	0	1	0	60	453				
CYTL1	54360	broad.mit.edu	37	4	5016925	5016925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5016925C>A	ENST00000307746.4	-	4	390	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	122					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATTGGGTATTCCAAGGCATTG	0.478																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(364-366)Gaa>Taa		cytokine-like 1							130.0	111.0	117.0					4																	5016925		2203	4300	6503	SO:0001587	stop_gained	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016925C>A	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.364G>T	4.37:g.5016925C>A	ENSP00000303550:p.Glu122*						p.E122*	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	390	-			122						Nonsense_Mutation	SNP	ENST00000307746.4	37	c.364G>T	CCDS3379.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.80|11.80|11.80	1.747105|1.747105|1.747105	0.30955|0.30955|0.30955	.|.|.	.|.|.	ENSG00000170891|ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508|ENST00000509419	.|.|.	.|.|.	.|.|.	4.46|4.46|4.46	4.46|4.46|4.46	0.54185|0.54185|0.54185	.|.|.	0.142736|.|.	0.45361|.|.	D|.|.	0.000361|.|.	.|T|T	.|0.64046|0.64046	.|0.2563|0.2563	.|.|.	.|.|.	.|.|.	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.63175|0.63175	.|-0.6696|-0.6696	.|4|4	0.72032|.|.	D|.|.	0.01|.|.	-20.4236|-20.4236|-20.4236	12.6303|12.6303|12.6303	0.56653|0.56653|0.56653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	122|61|77	.|.|.	ENSP00000303550:E122X|.|.	E|G|W	-|-|-	1|2|3	0|0|0	CYTL1|CYTL1|CYTL1	5067826|5067826|5067826	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.809000|0.809000|0.809000	0.32408|0.32408|0.32408	0.101000|0.101000|0.101000	0.19017|0.19017|0.19017	3.648000|3.648000|3.648000	0.54410|0.54410|0.54410	2.022000|2.022000|2.022000	0.59522|0.59522|0.59522	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAA|GGA|TGG		0.478	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		25	108	1	0	4.22769e-11	1	4.50498e-11	25	108				
DHX34	9704	broad.mit.edu	37	19	47865893	47865893	+	Silent	SNP	C	C	T	rs138426511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47865893C>T	ENST00000328771.4	+	6	1885	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	512	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATGATGCCTTCGCCCCCTACC	0.642																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1534-1536)ttC>ttT		DEAH (Asp-Glu-Ala-His) box polypeptide 34		C		1,4403		0,1,2201	24.0	25.0	25.0		1536	-2.1	1.0	19	dbSNP_134	25	0,8598		0,0,4299	no	coding-synonymous	DHX34	NM_014681.5		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		512/1144	47865893	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47865893C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1536C>T	19.37:g.47865893C>T						DHX34_ENST00000471451.1_Intron	p.F512F	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	6	1885	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	512			Helicase C-terminal.		B4DMY8	Silent	SNP	ENST00000328771.4	37	c.1536C>T	CCDS12700.1																																																																																				0.642	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		47	178	0	0	0	1	0	47	178				
CFAP53	220136	broad.mit.edu	37	18	47787442	47787442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47787442C>T	ENST00000398545.4	-	3	582	c.465G>A	c.(463-465)caG>caA	p.Q155Q		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ACCTGAATTGCTGGTCTAGCT	0.313																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(463-465)caG>caA		coiled-coil domain containing 11							162.0	157.0	158.0					18																	47787442		1817	4077	5894	SO:0001819	synonymous_variant	220136							g.chr18:47787442C>T																												ENST00000398545.4:c.465G>A	18.37:g.47787442C>T							p.Q155Q	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	3	582	-			155						Silent	SNP	ENST00000398545.4	37	c.465G>A	CCDS11940.2																																																																																				0.313	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			127	571	0	0	0	1	0	127	571				
CRNN	49860	broad.mit.edu	37	1	152382446	152382446	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152382446G>T	ENST00000271835.3	-	3	1174	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	371	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTCTAGCCCCTCCGTG	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1111-1113)gCt>gAt		cornulin							180.0	152.0	162.0					1																	152382446		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382446G>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1112C>A	1.37:g.152382446G>T	ENSP00000271835:p.Ala371Asp					RP1-91G5.3_ENST00000411804.1_RNA	p.A371D	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1174	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		371			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1112C>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851255	0.17034	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.41	0.178	0.15058	.	0.979395	0.08353	N	0.958954	T	0.01124	0.0037	L	0.31578	0.945	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.49123	-0.8972	10	0.14656	T	0.56	.	3.5545	0.07860	0.1941:0.0:0.4613:0.3446	.	371	Q9UBG3	CRNN_HUMAN	D	371	ENSP00000271835:A371D	ENSP00000271835:A371D	A	-	2	0	CRNN	150649070	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.067000	0.14510	-0.049000	0.13379	-0.237000	0.12165	GCT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		199	881	1	0	3.07355e-68	1	3.8966e-68	199	881				
KCNS3	3790	broad.mit.edu	37	2	18112762	18112762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18112762C>T	ENST00000403915.1	+	3	938	c.487C>T	c.(487-489)Cga>Tga	p.R163*	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	163					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGACACACTGCGATTTGGTCA	0.498																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(487-489)Cga>Tga		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							64.0	69.0	67.0					2																	18112762		2203	4300	6503	SO:0001587	stop_gained	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112762C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.487C>T	2.37:g.18112762C>T	ENSP00000385968:p.Arg163*					KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*|KCNS3_ENST00000465292.1_Intron	p.R163*			Q9BQ31	KCNS3_HUMAN			3	938	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		163					D6W520|O43651|Q4ZFY1|Q96B56	Nonsense_Mutation	SNP	ENST00000403915.1	37	c.487C>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995490	0.54147	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	.	.	.	5.88	0.769	0.18492	.	0.362862	0.30602	N	0.009277	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7012	0.12828	0.4916:0.2703:0.0:0.2381	.	.	.	.	X	163	.	ENSP00000305824:R163X	R	+	1	2	KCNS3	17976243	1.000000	0.71417	0.139000	0.22197	0.009000	0.06853	2.131000	0.42074	-0.144000	0.11314	0.655000	0.94253	CGA		0.498	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		30	297	0	0	0	1	0	30	297				
SEMA3D	223117	broad.mit.edu	37	7	84644469	84644469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84644469A>G	ENST00000284136.6	-	14	1652	c.1609T>C	c.(1609-1611)Tat>Cat	p.Y537H	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	537	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCTTTCCCATAAGTGTCGCAT	0.463																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1609-1611)Tat>Cat		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							149.0	137.0	141.0					7																	84644469		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84644469A>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1609T>C	7.37:g.84644469A>G	ENSP00000284136:p.Tyr537His					SEMA3D_ENST00000484038.1_5'UTR	p.Y537H	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			14	1652	-			537			PSI.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1609T>C	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686904	0.88639	.	.	ENSG00000153993	ENST00000284136	T	0.43294	0.95	5.75	5.75	0.90469	Semaphorin/CD100 antigen (1);	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67484	-0.5659	10	0.52906	T	0.07	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	537	O95025	SEM3D_HUMAN	H	537	ENSP00000284136:Y537H	ENSP00000284136:Y537H	Y	-	1	0	SEMA3D	84482405	1.000000	0.71417	0.926000	0.36857	0.975000	0.68041	9.339000	0.96797	2.196000	0.70406	0.459000	0.35465	TAT		0.463	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		96	376	0	0	0	1	0	96	376				
NLRC4	58484	broad.mit.edu	37	2	32476155	32476155	+	Nonsense_Mutation	SNP	C	C	A	rs557723374		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476155C>A	ENST00000404025.2	-	5	1266	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	260	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCGATTTCTGGGCAGTTC	0.507																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(778-780)Gaa>Taa		NLR family, CARD domain containing 4							113.0	105.0	108.0					2																	32476155		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476155C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.778G>T	2.37:g.32476155C>A	ENSP00000385090:p.Glu260*					NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*|NLRC4_ENST00000342905.6_Intron	p.E260*			Q9NPP4	NLRC4_HUMAN			5	1266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		260			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.778G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	37	6.210687	0.97380	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.27	3.27	0.37495	.	0.000000	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.4282	13.7957	0.63168	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000354159:E260X	E	-	1	0	NLRC4	32329659	1.000000	0.71417	0.937000	0.37676	0.911000	0.54048	2.663000	0.46774	1.836000	0.53414	0.543000	0.68304	GAA		0.507	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		50	626	1	0	7.77372e-23	1	8.81276e-23	50	626				
KSR1	8844	broad.mit.edu	37	17	25917918	25917918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25917918C>T	ENST00000319524.6	+	7	1128	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000398988.3_Silent_p.C239C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	376					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCAAGCATTGCAGGTGATGGG	0.522																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(715-717)tgC>tgT		kinase suppressor of ras 1							43.0	44.0	44.0					17																	25917918		2005	4184	6189	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25917918C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1128C>T	17.37:g.25917918C>T						KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000319524.6_Silent_p.C376C|KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000581975.1_3'UTR	p.C239C	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	8	1162	+	Lung NSC(42;0.00836)		374					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.717C>T		.	.	.	.	.	.	.	.	.	.	c	15.31	2.795145	0.50208	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5611	0.91100	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	.	Q	+	1	0	KSR1	22942045	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.621000	0.54210	2.647000	0.89833	0.486000	0.48141	CAG		0.522	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		17	70	0	0	0	1	0	17	70				
DHRS13	147015	broad.mit.edu	37	17	27225599	27225599	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27225599C>T	ENST00000378895.4	-	5	1120	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	FLOT2_ENST00000394908.4_5'Flank|FLOT2_ENST00000577789.1_5'Flank|FLOT2_ENST00000394906.2_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Missense_Mutation_p.A282T|DHRS13_ENST00000581974.1_5'Flank|FLOT2_ENST00000585169.1_5'Flank|DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	332						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAAGATGGGGCCTCTGAGTCC	0.612																																						ENST00000394901.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(844-846)Gcc>Acc		dehydrogenase/reductase (SDR family) member 13							26.0	28.0	27.0					17																	27225599		2203	4300	6503	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27225599C>T	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.994G>A	17.37:g.27225599C>T	ENSP00000368173:p.Ala332Thr					RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000378895.4_Missense_Mutation_p.A332T|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T	p.A282T			Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		4	1236	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		332					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.844G>A	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	C	8.772	0.926259	0.18056	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	T;T;D	0.82893	-1.45;-0.98;-1.66	4.99	-1.04	0.10068	.	0.990667	0.08205	N	0.981575	T	0.66886	0.2835	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.48592	-0.9022	10	0.22706	T	0.39	.	4.0285	0.09698	0.1651:0.439:0.0:0.3959	.	251;332	B4DJC5;Q6UX07	.;DHR13_HUMAN	T	332;282;251	ENSP00000368173:A332T;ENSP00000378361:A282T;ENSP00000412826:A251T	ENSP00000368173:A332T	A	-	1	0	DHRS13	24249725	0.001000	0.12720	0.252000	0.24328	0.120000	0.20174	-0.826000	0.04429	-0.020000	0.14032	0.561000	0.74099	GCC		0.612	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		16	77	0	0	0	1	0	16	77				
IRF2BP2	359948	broad.mit.edu	37	1	234743289	234743289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743289C>A	ENST00000366609.3	-	2	1388	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GTTGCTATTCCTCCTGGTAGT	0.587																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1357-1359)aGg>aTg		interferon regulatory factor 2 binding protein 2							159.0	160.0	160.0					1																	234743289		2203	4300	6503	SO:0001583	missense	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743289C>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1358G>T	1.37:g.234743289C>A	ENSP00000355568:p.Arg453Met					IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	p.R453M	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1388	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	453					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	c.1358G>T	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088416	0.76756	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.34667	1.35;1.37	5.64	5.64	0.86602	.	0.050043	0.85682	D	0.000000	T	0.61123	0.2322	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.58819	-0.7569	10	0.48119	T	0.1	-10.4175	19.6878	0.95987	0.0:1.0:0.0:0.0	.	453;437	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	M	437;453	ENSP00000355569:R437M;ENSP00000355568:R453M	ENSP00000355568:R453M	R	-	2	0	IRF2BP2	232809912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.341000	0.79300	2.670000	0.90874	0.655000	0.94253	AGG		0.587	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		172	950	1	0	3.78446e-69	1	4.80127e-69	172	950				
ZC3H13	23091	broad.mit.edu	37	13	46563006	46563006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46563006G>A	ENST00000242848.4	-	9	1519	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	391	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGAGAGCGATGTCTTGGAGGA	0.483																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1171-1173)Cat>Tat		zinc finger CCCH-type containing 13							149.0	129.0	136.0					13																	46563006		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46563006G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1171C>T	13.37:g.46563006G>A	ENSP00000242848:p.His391Tyr					ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y	p.H391Y			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1519	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	391			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1171C>T		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959377	0.53400	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35421	2.27;1.31	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000004	T	0.50240	0.1604	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.62955	0.813;0.909	T	0.48068	-0.9067	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	391;391	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	391;391;207	ENSP00000242848:H391Y;ENSP00000282007:H391Y	ENSP00000242848:H391Y	H	-	1	0	ZC3H13	45461007	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.859000	0.86982	2.738000	0.93877	0.655000	0.94253	CAT		0.483	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		52	194	0	0	0	1	0	52	194				
LLGL1	3996	broad.mit.edu	37	17	18138215	18138215	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18138215T>C	ENST00000316843.4	+	9	1064	c.968T>C	c.(967-969)gTa>gCa	p.V323A		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	323					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGCCACTGTGTAAGTGTGCTT	0.582																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(967-969)gTa>gCa		lethal giant larvae homolog 1 (Drosophila)							86.0	62.0	70.0					17																	18138215		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138215T>C		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.968T>C	17.37:g.18138215T>C	ENSP00000321537:p.Val323Ala						p.V323A	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			9	1064	+	all_neural(463;0.228)		323					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.968T>C	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056948	0.93846	.	.	ENSG00000131899	ENST00000316843	T	0.07908	3.15	5.61	5.61	0.85477	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.118496	0.64402	D	0.000020	T	0.21674	0.0522	M	0.71206	2.165	0.53688	D	0.999977	P	0.52170	0.951	P	0.53035	0.716	T	0.00357	-1.1792	10	0.87932	D	0	-24.0971	14.8227	0.70085	0.0:0.0:0.0:1.0	.	323	Q15334	L2GL1_HUMAN	A	323	ENSP00000321537:V323A	ENSP00000321537:V323A	V	+	2	0	LLGL1	18078940	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.990000	0.88215	2.156000	0.67533	0.524000	0.50904	GTA		0.582	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			21	147	0	0	0	1	0	21	147				
AIFM1	9131	broad.mit.edu	37	X	129263959	129263959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129263959G>A	ENST00000287295.3	-	15	1986	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	586					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CTTGCTATTGGCATTCGGTTA	0.507																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1756-1758)Cca>Tca		apoptosis-inducing factor, mitochondrion-associated, 1							157.0	130.0	139.0					X																	129263959		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129263959G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1756C>T	X.37:g.129263959G>A	ENSP00000287295:p.Pro586Ser					AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S	p.P586S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			15	1986	-			586					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.1756C>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842653	0.32606	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.82255	1.06;1.05;-1.59;1.06;-0.59	4.94	3.03	0.35002	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	L	0.42487	1.325	0.80722	D	1	B;P;P	0.42941	0.057;0.747;0.794	B;B;B	0.38020	0.026;0.263;0.135	T	0.69602	-0.5101	10	0.27082	T	0.32	-8.0288	10.8515	0.46773	0.0:0.1371:0.7176:0.1453	.	299;582;586	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	S	247;299;582;234;586	ENSP00000431222:P247S;ENSP00000316320:P299S;ENSP00000315122:P582S;ENSP00000405879:P234S;ENSP00000287295:P586S	ENSP00000287295:P586S	P	-	1	0	AIFM1	129091640	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.429000	0.80309	1.028000	0.39785	0.600000	0.82982	CCA		0.507	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			192	640	0	0	0	1	0	192	640				
FREM2	341640	broad.mit.edu	37	13	39262299	39262299	+	Missense_Mutation	SNP	G	G	A	rs201675703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262299G>A	ENST00000280481.7	+	1	1034	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	273					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R273H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCGCCAGTCGCTCACCAAAC	0.622																																						ENST00000280481.7																			1	Substitution - Missense(1)	p.R273H(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(817-819)cGc>cAc		FRAS1 related extracellular matrix protein 2							57.0	60.0	59.0					13																	39262299		2202	4299	6501	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262299G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.818G>A	13.37:g.39262299G>A	ENSP00000280481:p.Arg273His						p.R273H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1034	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	273					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.818G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043599	0.19748	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	5.81	0.771	0.18504	.	0.408176	0.27917	N	0.017334	T	0.13670	0.0331	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16070	-1.0415	10	0.39692	T	0.17	.	1.7756	0.03021	0.2427:0.1058:0.4352:0.2164	.	273	Q5SZK8	FREM2_HUMAN	H	273	ENSP00000280481:R273H	ENSP00000280481:R273H	R	+	2	0	FREM2	38160299	0.000000	0.05858	0.008000	0.14137	0.981000	0.71138	0.521000	0.22893	0.349000	0.23975	0.655000	0.94253	CGC		0.622	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		45	497	0	0	0	1	0	45	497				
MEX3A	92312	broad.mit.edu	37	1	156047459	156047459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047459C>T	ENST00000532414.2	-	2	468	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	157	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTCAAGGCCTTAATCTTG	0.567																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(469-471)Gcc>Acc		mex-3 RNA binding family member A							31.0	32.0	31.0					1																	156047459		2095	4236	6331	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047459C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.469G>A	1.37:g.156047459C>T	ENSP00000432845:p.Ala157Thr					MEX3A_ENST00000442784.1_5'UTR	p.A157T	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	468	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		157			KH 1.			Missense_Mutation	SNP	ENST00000532414.2	37	c.469G>A	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629529	0.87660	.	.	ENSG00000254726	ENST00000532414	T	0.30448	1.53	5.37	5.37	0.77165	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.17167	-1.0378	10	0.45353	T	0.12	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	157	A1L020	MEX3A_HUMAN	T	157	ENSP00000432845:A157T	ENSP00000432845:A157T	A	-	1	0	MEX3A	154314083	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.999000	0.70665	2.527000	0.85204	0.462000	0.41574	GCC		0.567	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		29	90	0	0	0	1	0	29	90				
M1AP	130951	broad.mit.edu	37	2	74802682	74802682	+	Silent	SNP	G	G	A	rs575443272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74802682G>A	ENST00000290536.5	-	7	1073	c.957C>T	c.(955-957)tgC>tgT	p.C319C	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Silent_p.C319C|M1AP_ENST00000409585.1_Silent_p.C319C|M1AP_ENST00000358434.2_Silent_p.C37C	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	319					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCAATGACTCGCAGAGCCCGC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18547	0.001		0.0	False		,,,				2504	0.0					ENST00000290536.5																			0											c.(955-957)tgC>tgT		meiosis 1 associated protein							109.0	107.0	108.0					2																	74802682		2203	4300	6503	SO:0001819	synonymous_variant	130951							g.chr2:74802682G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.957C>T	2.37:g.74802682G>A						M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Silent_p.C37C|M1AP_ENST00000536235.1_Silent_p.C319C|M1AP_ENST00000409585.1_Silent_p.C319C	p.C319C	NM_138804.3	NP_620159.2					7	1073	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Silent	SNP	ENST00000290536.5	37	c.957C>T	CCDS33229.1																																																																																				0.458	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		153	442	0	0	0	1	0	153	442				
HTR3A	3359	broad.mit.edu	37	11	113857382	113857382	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113857382G>A	ENST00000504030.2	+	7	1293	c.848G>A	c.(847-849)gGc>gAc	p.G283D	HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	283					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCCTCCTGGGCTACTCGGTC	0.577																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(847-849)gGc>gAc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						103.0	80.0	88.0					11																	113857382		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857382G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.848G>A	11.37:g.113857382G>A	ENSP00000424189:p.Gly283Asp					HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D|HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D	p.G283D			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1293	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	283					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.848G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.540559	0.85917	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85258	-1.96;-0.62;-1.96;-0.62;-1.96;-1.96	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.94826	0.7991	10	0.87932	D	0	-31.8021	18.4412	0.90667	0.0:0.0:1.0:0.0	.	268;289;289	B4DSY6;G5E986;Q7KZM7	.;.;.	D	283;289;289;283;27;268	ENSP00000424189:G283D;ENSP00000347754:G289D;ENSP00000364648:G289D;ENSP00000424776:G283D;ENSP00000437776:G27D;ENSP00000299961:G268D	ENSP00000299961:G268D	G	+	2	0	HTR3A	113362592	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.421000	0.82119	0.561000	0.74099	GGC		0.577	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		49	424	0	0	0	1	0	49	424				
TIMM22	29928	broad.mit.edu	37	17	902750	902750	+	Splice_Site	SNP	A	A	G	rs141823779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:902750A>G	ENST00000327158.4	+	3	461		c.e3-1			NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCTGCCCACAGTACCGGGGA	0.502																																						ENST00000327158.3																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.e3-1		translocase of inner mitochondrial membrane 22 homolog (yeast)		A		1,4405	2.1+/-5.4	0,1,2202	270.0	233.0	245.0			5.7	1.0	17	dbSNP_134	245	0,8600		0,0,4300	no	splice-3	TIMM22	NM_013337.2		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077			902750	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:902750A>G	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.436-1A>G	17.37:g.902750A>G								NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	3	461	+								Q9NWI8	Splice_Site	SNP	ENST00000327158.4	37		CCDS32521.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025922	0.54683	2.27E-4	0.0	ENSG00000177370	ENST00000327158	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0767	0.72082	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TIMM22	849500	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	8.864000	0.92294	2.150000	0.67090	0.533000	0.62120	.		0.502	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337	Intron	102	490	0	0	0	1	0	102	490				
KCNQ1	3784	broad.mit.edu	37	11	2606516	2606516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2606516G>A	ENST00000155840.5	+	8	1215	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	KCNQ1_ENST00000335475.5_Silent_p.P242P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	369					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCAGATCCCGGCGGCAGCCT	0.592																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(1105-1107)ccG>ccA		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						83.0	75.0	78.0					11																	2606516		2202	4299	6501	SO:0001819	synonymous_variant	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2606516G>A	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1107G>A	11.37:g.2606516G>A						KCNQ1_ENST00000335475.5_Silent_p.P242P	p.P369P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	8	1215	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	369					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	c.1107G>A	CCDS7736.1																																																																																				0.592	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		20	385	0	0	0	1	0	20	385				
PGM2L1	283209	broad.mit.edu	37	11	74049647	74049647	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74049647C>A	ENST00000298198.4	-	13	1944		c.e13-1			NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1						glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CAGGCAGCACCTATGCAAAAT	0.343																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.e13-1		phosphoglucomutase 2-like 1							101.0	90.0	94.0					11																	74049647		2200	4293	6493	SO:0001630	splice_region_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74049647C>A	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1633-1G>T	11.37:g.74049647C>A								NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			13	1944	-	Breast(11;3.32e-06)							Q96MQ7|Q9UIK3	Splice_Site	SNP	ENST00000298198.4	37		CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403256	0.62288	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.5	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4863	0.55874	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	PGM2L1	73727295	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.484000	0.81180	1.460000	0.47911	0.563000	0.77884	.		0.343	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582	Intron	61	341	1	0	5.08636e-23	1	5.77245e-23	61	341				
BCO1	53630	broad.mit.edu	37	16	81303878	81303878	+	Missense_Mutation	SNP	G	G	A	rs570126506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81303878G>A	ENST00000258168.2	+	7	1419	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	BCMO1_ENST00000425577.2_Missense_Mutation_p.V251M	NM_017429.2	NP_059125.2												p.V320M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CGGCTGCATCGTGTTTGACGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18977	0.0		0.0	False		,,,				2504	0.001					ENST00000258168.2																			1	Substitution - Missense(1)	p.V320M(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(958-960)Gtg>Atg		beta-carotene 15,15'-monooxygenase 1							186.0	137.0	154.0					16																	81303878		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81303878G>A																												ENST00000258168.2:c.958G>A	16.37:g.81303878G>A	ENSP00000258168:p.Val320Met					BCMO1_ENST00000425577.2_Missense_Mutation_p.V251M	p.V320M	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			7	1419	+			320						Missense_Mutation	SNP	ENST00000258168.2	37	c.958G>A	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881124	0.33255	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.96232	-3.95;-3.95	5.62	-2.09	0.07232	.	0.432303	0.24076	N	0.041767	D	0.94571	0.8251	M	0.79343	2.45	0.37085	D	0.899185	D;P	0.63046	0.992;0.875	P;B	0.44897	0.463;0.344	D	0.92091	0.5680	10	0.62326	D	0.03	-4.5565	9.1771	0.37118	0.1574:0.1476:0.6236:0.0714	.	251;320	E7EM88;Q9HAY6	.;BCDO1_HUMAN	M	320;251	ENSP00000258168:V320M;ENSP00000400586:V251M	ENSP00000258168:V320M	V	+	1	0	BCMO1	79861379	0.000000	0.05858	0.198000	0.23420	0.306000	0.27790	-0.226000	0.09139	-0.197000	0.10350	-0.171000	0.13296	GTG		0.552	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			12	555	0	0	0	1	0	12	555				
CCDC27	148870	broad.mit.edu	37	1	3683818	3683818	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3683818A>G	ENST00000294600.2	+	10	1636	c.1552A>G	c.(1552-1554)Aag>Gag	p.K518E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	518										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACTGGAGAGAAAGCTCACCAA	0.562																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1552-1554)Aag>Gag		coiled-coil domain containing 27							47.0	48.0	48.0					1																	3683818		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3683818A>G		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1552A>G	1.37:g.3683818A>G	ENSP00000294600:p.Lys518Glu						p.K518E	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1636	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	518					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1552A>G	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	0.225	-1.025232	0.02061	.	.	ENSG00000162592	ENST00000294600	T	0.17528	2.27	5.24	1.08	0.20341	.	0.775011	0.11797	N	0.528528	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B	0.20261	0.043	B	0.17722	0.019	T	0.44605	-0.9317	10	0.13853	T	0.58	-3.2002	7.2761	0.26286	0.4014:0.0:0.5986:0.0	.	518	Q2M243	CCD27_HUMAN	E	518	ENSP00000294600:K518E	ENSP00000294600:K518E	K	+	1	0	CCDC27	3673678	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.177000	0.16801	-0.071000	0.12886	-0.899000	0.02877	AAG		0.562	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		19	150	0	0	0	1	0	19	150				
KDM6B	23135	broad.mit.edu	37	17	7750937	7750937	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7750937G>T	ENST00000448097.2	+	11	1662	c.1331G>T	c.(1330-1332)aGc>aTc	p.S444I	KDM6B_ENST00000254846.5_Missense_Mutation_p.S444I			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	444	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCGGCACACAGCAGTCGGAAA	0.657																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1330-1332)aGc>aTc		lysine (K)-specific demethylase 6B							23.0	25.0	24.0					17																	7750937		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750937G>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1331G>T	17.37:g.7750937G>T	ENSP00000412513:p.Ser444Ile					KDM6B_ENST00000448097.2_Missense_Mutation_p.S444I	p.S444I	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	1720	+			444			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1331G>T		.	.	.	.	.	.	.	.	.	.	G	11.14	1.549796	0.27652	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.09163	3.01;3.01	4.19	3.23	0.37069	.	0.355288	0.27185	N	0.020531	T	0.07548	0.0190	N	0.14661	0.345	0.26903	N	0.967064	B	0.28880	0.226	B	0.34138	0.176	T	0.25117	-1.0141	10	0.52906	T	0.07	-4.2785	9.4896	0.38951	0.1015:0.0:0.8985:0.0	.	444	O15054-1	.	I	444	ENSP00000254846:S444I;ENSP00000412513:S444I	ENSP00000254846:S444I	S	+	2	0	KDM6B	7691662	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.180000	0.42537	1.129000	0.42072	0.561000	0.74099	AGC		0.657	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		36	138	1	0	7.04047e-22	1	7.94894e-22	36	138				
OR51A7	119687	broad.mit.edu	37	11	4929297	4929297	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4929297G>T	ENST00000359350.4	+	1	698	c.698G>T	c.(697-699)aGg>aTg	p.R233M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCAGAGAGGCTTAAGGCC	0.473																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(697-699)aGg>aTg		olfactory receptor, family 51, subfamily A, member 7							238.0	205.0	216.0					11																	4929297		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929297G>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.698G>T	11.37:g.4929297G>T	ENSP00000352305:p.Arg233Met					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.R233M	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	698	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	233					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.698G>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734199	0.30684	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.46451	0.87	5.02	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.66607	0.2806	M	0.93283	3.4	0.09310	N	1	D	0.60575	0.988	P	0.60286	0.872	T	0.63541	-0.6614	10	0.87932	D	0	.	10.1619	0.42858	0.1499:0.0:0.8501:0.0	.	233	Q8NH64	O51A7_HUMAN	M	233;233;222	ENSP00000352305:R233M	ENSP00000352305:R233M	R	+	2	0	OR51A7	4885873	0.007000	0.16637	0.666000	0.29783	0.234000	0.25298	1.580000	0.36547	2.596000	0.87737	0.655000	0.94253	AGG		0.473	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		124	624	1	0	7.11685e-60	1	8.9425e-60	124	624				
JPH2	57158	broad.mit.edu	37	20	42744440	42744440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42744440C>T	ENST00000372980.3	-	4	2747	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	625	Pro-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGATGATGGGCTTGGGCTCCA	0.741																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1873-1875)aaG>aaA		junctophilin 2							19.0	22.0	21.0					20																	42744440		2202	4298	6500	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42744440C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1875G>A	20.37:g.42744440C>T							p.K625K	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	2747	-		Myeloproliferative disorder(115;0.0122)	625			Pro-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.1875G>A	CCDS13325.1																																																																																				0.741	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			36	187	0	0	0	1	0	36	187				
CAPN13	92291	broad.mit.edu	37	2	31010077	31010077	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31010077T>G	ENST00000295055.8	-	2	291	c.115A>C	c.(115-117)Aca>Cca	p.T39P	CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	39	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCAGGGAATGTCTCATCCTTA	0.542																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(115-117)Aca>Cca		calpain 13							47.0	49.0	48.0					2																	31010077		1982	4163	6145	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:31010077T>G		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.115A>C	2.37:g.31010077T>G	ENSP00000295055:p.Thr39Pro					CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P	p.T39P	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			2	291	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		39			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.115A>C	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203808	0.38905	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87650	-2.28;-2.28	5.91	3.46	0.39613	Peptidase C2, calpain, catalytic domain (3);	0.296884	0.36815	N	0.002391	D	0.90549	0.7038	M	0.81239	2.535	0.33205	D	0.552634	D	0.69078	0.997	D	0.67548	0.952	D	0.89689	0.3896	10	0.33940	T	0.23	.	4.8091	0.13335	0.1652:0.0869:0.0:0.7479	.	39	Q6MZZ7	CAN13_HUMAN	P	39	ENSP00000295055:T39P;ENSP00000431298:T39P	ENSP00000295055:T39P	T	-	1	0	CAPN13	30863581	0.609000	0.26975	0.990000	0.47175	0.135000	0.20990	1.198000	0.32223	2.266000	0.75297	0.533000	0.62120	ACA		0.542	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		16	57	0	0	0	1	0	16	57				
DCHS1	8642	broad.mit.edu	37	11	6643989	6643989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643989C>T	ENST00000299441.3	-	21	9329	c.8918G>A	c.(8917-8919)gGc>gAc	p.G2973D	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2973					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACATTGGGCCAGGGGCTGC	0.637																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(8917-8919)gGc>gAc		dachsous cadherin-related 1							50.0	42.0	45.0					11																	6643989		2196	4288	6484	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643989C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8918G>A	11.37:g.6643989C>T	ENSP00000299441:p.Gly2973Asp						p.G2973D	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9329	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2973					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8918G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683073	0.47991	.	.	ENSG00000166341	ENST00000299441	T	0.54479	0.57	4.71	3.75	0.43078	.	0.503830	0.15243	N	0.272800	T	0.54367	0.1854	L	0.42245	1.32	0.38260	D	0.941842	D	0.58970	0.984	P	0.52109	0.69	T	0.55780	-0.8087	10	0.37606	T	0.19	.	13.0641	0.59024	0.1608:0.8392:0.0:0.0	.	2973	Q96JQ0	PCD16_HUMAN	D	2973	ENSP00000299441:G2973D	ENSP00000299441:G2973D	G	-	2	0	DCHS1	6600565	0.364000	0.24997	1.000000	0.80357	0.983000	0.72400	0.174000	0.16743	2.450000	0.82876	0.655000	0.94253	GGC		0.637	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		6	40	0	0	0	1	0	6	40				
RAPGEF4	11069	broad.mit.edu	37	2	173891399	173891399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173891399T>C	ENST00000397081.3	+	24	2496	c.2353T>C	c.(2353-2355)Tgg>Cgg	p.W785R	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.W784R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	785	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AATTTATGATTGGGAACTCTT	0.438																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2350-2352)Tgg>Cgg		Rap guanine nucleotide exchange factor (GEF) 4							122.0	108.0	112.0					2																	173891399		1927	4151	6078	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173891399T>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2353T>C	2.37:g.173891399T>C	ENSP00000380271:p.Trp785Arg					RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.W785R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R	p.W784R			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		24	2537	+			785			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.2350T>C	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216318	0.79352	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.42	5.42	0.78866	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.87456	2.885	0.80722	D	1	D;D	0.58268	0.982;0.97	P;D	0.68765	0.799;0.96	T	0.68580	-0.5371	10	0.87932	D	0	.	15.7539	0.78009	0.0:0.0:0.0:1.0	.	641;785	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	R	784;785;785;641;614;632;632;565;16	ENSP00000264111:W784R;ENSP00000380271:W785R;ENSP00000387104:W785R;ENSP00000380276:W641R;ENSP00000440135:W614R;ENSP00000440250:W632R;ENSP00000437384:W632R;ENSP00000438011:W565R;ENSP00000380274:W16R	ENSP00000264111:W784R	W	+	1	0	RAPGEF4	173599645	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.655000	0.83696	2.189000	0.69895	0.533000	0.62120	TGG		0.438	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		88	380	0	0	0	1	0	88	380				
SEL1L2	80343	broad.mit.edu	37	20	13868480	13868480	+	Missense_Mutation	SNP	G	G	A	rs372260139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868480G>A	ENST00000284951.5	-	8	754	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	227						integral component of membrane (GO:0016021)		p.S227L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTGATTCCCGACAAATATCT	0.303																																						ENST00000284951.5																			1	Substitution - Missense(1)	p.S227L(1)	large_intestine(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(679-681)tCg>tTg		sel-1 suppressor of lin-12-like 2 (C. elegans)		G	LEU/SER	1,3661		0,1,1830	131.0	127.0	128.0		680	5.7	1.0	20		128	0,8160		0,0,4080	no	missense	SEL1L2	NM_025229.1	145	0,1,5910	AA,AG,GG		0.0,0.0273,0.0085	possibly-damaging	227/689	13868480	1,11821	1831	4080	5911	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13868480G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.680C>T	20.37:g.13868480G>A	ENSP00000284951:p.Ser227Leu					SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L|SEL1L2_ENST00000486903.1_5'UTR	p.S227L			Q5TEA6	SE1L2_HUMAN			8	754	-			227					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.680C>T		.	.	.	.	.	.	.	.	.	.	G	14.60	2.583741	0.46006	2.73E-4	0.0	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51817	0.69;0.69	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.133415	0.34853	N	0.003627	T	0.48333	0.1494	M	0.64080	1.96	0.37370	D	0.911584	B;D	0.57571	0.323;0.98	B;P	0.46110	0.095;0.504	T	0.50516	-0.8819	10	0.12103	T	0.63	-9.039	15.3235	0.74141	0.0:0.0:1.0:0.0	.	227;227	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	227	ENSP00000367312:S227L;ENSP00000284951:S227L	ENSP00000284951:S227L	S	-	2	0	SEL1L2	13816480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.574000	0.53863	2.674000	0.91012	0.650000	0.86243	TCG		0.303	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		89	428	0	0	0	1	0	89	428				
LAMB1	3912	broad.mit.edu	37	7	107638873	107638873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107638873C>A	ENST00000222399.6	-	4	508	c.278G>T	c.(277-279)aGc>aTc	p.S93I	U3_ENST00000458938.1_RNA|LAMB1_ENST00000393561.1_Missense_Mutation_p.S117I|LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	93	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AATGAGATGGCTGTCAGGATT	0.423																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(349-351)aGc>aTc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						164.0	139.0	147.0					7																	107638873		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107638873C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.278G>T	7.37:g.107638873C>A	ENSP00000222399:p.Ser93Ile					LAMB1_ENST00000222399.6_Missense_Mutation_p.S93I|LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I	p.S117I			P07942	LAMB1_HUMAN			2	534	-			93			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.350G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603508	0.87157	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976	T;T;T;T	0.77098	-1.03;-1.03;-1.03;-1.07	6.08	6.08	0.98989	Laminin, N-terminal (3);	.	.	.	.	D	0.90978	0.7163	M	0.89715	3.055	0.54753	D	0.99998	D;D;D;D	0.76494	0.998;0.988;0.999;0.999	D;D;D;D	0.79108	0.948;0.917;0.992;0.958	D	0.91522	0.5235	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	179;93;93;117	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	I	117;93;93;179	ENSP00000377191:S117I;ENSP00000222399:S93I;ENSP00000377190:S93I;ENSP00000412686:S179I	ENSP00000222399:S93I	S	-	2	0	LAMB1	107426109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.792000	0.55476	2.894000	0.99253	0.655000	0.94253	AGC		0.423	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		70	387	1	0	2.165e-29	1	2.52906e-29	70	387				
ACADSB	36	broad.mit.edu	37	10	124800860	124800860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800860C>T	ENST00000358776.4	+	5	660	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	216					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCACGCAGGGCTCTTTCTGGT	0.398																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(646-648)Ctc>Ttc		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						138.0	133.0	135.0					10																	124800860		2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124800860C>T	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.646C>T	10.37:g.124800860C>T	ENSP00000357873:p.Leu216Phe					ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F|ACADSB_ENST00000496730.2_3'UTR	p.L216F	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	5	660	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	216					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.646C>T	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	7.442	0.640989	0.14386	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.95482	-3.72;-3.72	6.01	2.67	0.31697	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.191034	0.45126	D	0.000390	D	0.85923	0.5810	N	0.04636	-0.2	0.44899	D	0.997917	B	0.15930	0.015	B	0.18263	0.021	T	0.79766	-0.1665	10	0.27785	T	0.31	.	8.0122	0.30359	0.3112:0.3526:0.3362:0.0	.	216	P45954	ACDSB_HUMAN	F	114;216	ENSP00000357862:L114F;ENSP00000357873:L216F	ENSP00000357873:L216F	L	+	1	0	ACADSB	124790850	0.884000	0.30299	0.868000	0.34077	0.187000	0.23431	1.331000	0.33793	1.514000	0.48869	0.650000	0.86243	CTC		0.398	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		110	569	0	0	0	1	0	110	569				
ANKS3	124401	broad.mit.edu	37	16	4764060	4764060	+	Missense_Mutation	SNP	C	C	T	rs372034547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4764060C>T	ENST00000304283.4	-	7	995	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q|ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q|ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	234										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCTGGGCTCCGATAGAGGCT	0.617																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(700-702)cGg>cAg		ankyrin repeat and sterile alpha motif domain containing 3		C	GLN/ARG,GLN/ARG	0,4394		0,0,2197	86.0	67.0	73.0		380,701	4.7	1.0	16		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	43,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	127/550,234/657	4764060	1,12993	2197	4300	6497	SO:0001583	missense	124401							g.chr16:4764060C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.701G>A	16.37:g.4764060C>T	ENSP00000304586:p.Arg234Gln					ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q|ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q|ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q	p.R234Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			7	995	-			234					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.701G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909587	0.92107	0.0	1.16E-4	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.52754	1.21;2.98;0.65	4.74	4.74	0.60224	.	0.393434	0.23023	N	0.052828	T	0.66107	0.2756	M	0.69823	2.125	0.40360	D	0.979238	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.944	T	0.67902	-0.5550	10	0.48119	T	0.1	-7.6051	14.5727	0.68224	0.0:1.0:0.0:0.0	.	28;234	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	Q	234;105;28	ENSP00000304586:R234Q;ENSP00000406796:R105Q;ENSP00000388270:R28Q	ENSP00000304586:R234Q	R	-	2	0	ANKS3	4704061	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	4.192000	0.58378	2.472000	0.83506	0.561000	0.74099	CGG		0.617	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		65	257	0	0	0	1	0	65	257				
TMEM45A	55076	broad.mit.edu	37	3	100287799	100287799	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100287799C>A	ENST00000323523.4	+	5	1035	c.722C>A	c.(721-723)gCt>gAt	p.A241D	TMEM45A_ENST00000403410.1_Missense_Mutation_p.A257D	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	241						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						ATGAATTATGCTTTCATTACC	0.353																																						ENST00000403410.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						c.(769-771)gCt>gAt		transmembrane protein 45A							252.0	241.0	244.0					3																	100287799		2203	4300	6503	SO:0001583	missense	55076					integral to membrane		g.chr3:100287799C>A	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.722C>A	3.37:g.100287799C>A	ENSP00000319009:p.Ala241Asp					TMEM45A_ENST00000323523.4_Missense_Mutation_p.A241D	p.A257D			Q9NWC5	TM45A_HUMAN			7	1390	+			241					Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	c.770C>A	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642226	0.29157	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.46819	0.86;0.86	5.81	1.73	0.24493	.	0.392722	0.31061	N	0.008325	T	0.52533	0.1740	M	0.75447	2.3	0.20563	N	0.999889	D	0.55800	0.973	P	0.52856	0.711	T	0.44143	-0.9347	10	0.36615	T	0.2	-2.4107	6.2562	0.20876	0.0:0.5907:0.1208:0.2885	.	241	Q9NWC5	TM45A_HUMAN	D	241;257	ENSP00000319009:A241D;ENSP00000385089:A257D	ENSP00000319009:A241D	A	+	2	0	TMEM45A	101770489	0.332000	0.24722	0.012000	0.15200	0.057000	0.15508	0.324000	0.19610	0.032000	0.15435	0.555000	0.69702	GCT		0.353	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		167	747	1	0	7.1496e-87	1	9.16847e-87	167	747				
MAP3K1	4214	broad.mit.edu	37	5	56155658	56155658	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56155658T>C	ENST00000399503.3	+	3	750	c.750T>C	c.(748-750)agT>agC	p.S250S	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	250					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCGACGCAGTCCTTCTCCTG	0.498																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(748-750)agT>agC		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							44.0	45.0	45.0					5																	56155658		1925	4130	6055	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56155658T>C	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.750T>C	5.37:g.56155658T>C						AC008937.2_ENST00000415589.1_RNA	p.S250S	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	3	750	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	250						Silent	SNP	ENST00000399503.3	37	c.750T>C	CCDS43318.1																																																																																				0.498	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		27	141	0	0	0	1	0	27	141				
ZNF236	7776	broad.mit.edu	37	18	74620380	74620380	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74620380A>C	ENST00000253159.8	+	14	2594	c.2396A>C	c.(2395-2397)gAg>gCg	p.E799A	ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	799					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGCAGGTGGAGATCGAGAGC	0.622																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2395-2397)gAg>gCg		zinc finger protein 236							66.0	75.0	72.0					18																	74620380		2099	4216	6315	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620380A>C	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2396A>C	18.37:g.74620380A>C	ENSP00000253159:p.Glu799Ala					ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	p.E799A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2594	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	799					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2396A>C	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292833	0.23564	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11385	2.78;2.94	5.23	4.07	0.47477	.	0.263343	0.35495	N	0.003164	T	0.12987	0.0315	M	0.65975	2.015	0.36641	D	0.876866	B	0.24483	0.104	B	0.19148	0.024	T	0.06110	-1.0845	10	0.33940	T	0.23	.	10.9976	0.47585	0.9261:0.0:0.0739:0.0	.	799	Q9UL36	ZN236_HUMAN	A	799	ENSP00000253159:E799A;ENSP00000444524:E799A	ENSP00000253159:E799A	E	+	2	0	ZNF236	72749368	1.000000	0.71417	0.353000	0.25747	0.228000	0.25075	4.800000	0.62524	0.941000	0.37499	0.460000	0.39030	GAG		0.622	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			113	547	0	0	0	1	0	113	547				
KNDC1	85442	broad.mit.edu	37	10	134996942	134996942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134996942C>T	ENST00000304613.3	+	4	476	c.455C>T	c.(454-456)gCg>gTg	p.A152V	KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V|KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	152	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACCTCGAGGCGCTGCTGAGC	0.697																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(454-456)gCg>gTg		kinase non-catalytic C-lobe domain (KIND) containing 1							23.0	25.0	25.0					10																	134996942		2198	4296	6494	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134996942C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.455C>T	10.37:g.134996942C>T	ENSP00000304437:p.Ala152Val					KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V|KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V	p.A152V			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	4	476	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	152			KIND 1.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.455C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034408	0.35893	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.74209	-0.82;-0.82;2.17	4.39	0.088	0.14452	KIND (2);	0.821147	0.10660	N	0.648876	T	0.52645	0.1747	L	0.36672	1.1	0.19300	N	0.99997	B;P	0.35011	0.086;0.48	B;B	0.21151	0.011;0.033	T	0.38757	-0.9646	10	0.36615	T	0.2	-2.8011	1.4725	0.02419	0.1652:0.461:0.1731:0.2008	.	87;152	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	V	152;152;87	ENSP00000304437:A152V;ENSP00000357561:A152V;ENSP00000357560:A87V	ENSP00000304437:A152V	A	+	2	0	KNDC1	134846932	0.000000	0.05858	0.970000	0.41538	0.924000	0.55760	-0.626000	0.05527	-0.182000	0.10602	0.450000	0.29827	GCG		0.697	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		11	59	0	0	0	1	0	11	59				
LRRC7	57554	broad.mit.edu	37	1	70226019	70226019	+	Silent	SNP	C	C	T	rs200701056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70226019C>T	ENST00000035383.5	+	1	162	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000310961.5_Silent_p.F49F|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	44						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.F44F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTTTAACTTCGAACGAACAT	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17358	0.0		0.0	False		,,,				2504	0.0					ENST00000310961.5																			1	Substitution - coding silent(1)	p.F44F(1)	large_intestine(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(145-147)ttC>ttT		leucine rich repeat containing 7							84.0	83.0	83.0					1																	70226019		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70226019C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.132C>T	1.37:g.70226019C>T						LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000035383.5_Silent_p.F44F|LRRC7_ENST00000415775.2_5'UTR	p.F49F			Q96NW7	LRRC7_HUMAN			4	565	+			44					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.147C>T	CCDS645.1																																																																																				0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	249	0	0	0	1	0	31	249				
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A1031V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3328-3330)gCc>gTc		cyclin G associated kinase							50.0	58.0	56.0					4																	845717		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845717G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3329C>T	4.37:g.845717G>A	ENSP00000314499:p.Ala1110Val					GAK_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	p.A1110V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3439	-			1110					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.3329C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052048|3.052048	0.55218|0.55218	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.78816|.	-0.75;-1.21|.	4.69|4.69	0.642|0.642	0.17765|0.17765	.|.	0.900083|.	0.09447|.	N|.	0.800923|.	T|T	0.32585|0.32585	0.0834|0.0834	L|L	0.39147|0.39147	1.195|1.195	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23442|.	0.085;0.031;0.085;0.038|.	B;B;B;B|.	0.21151|.	0.033;0.006;0.033;0.022|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.51188|.	T|.	0.08|.	-19.6619|-19.6619	4.9436|4.9436	0.13978|0.13978	0.1951:0.3334:0.4715:0.0|0.1951:0.3334:0.4715:0.0	.|.	1012;1031;1110;995|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	V|S	386;1110;1031|266	ENSP00000314499:A1110V;ENSP00000421361:A1031V|.	ENSP00000314499:A1110V|.	A|P	-|-	2|1	0|0	GAK|GAK	835717|835717	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.575000|0.575000	0.23729|0.23729	0.179000|0.179000	0.19938|0.19938	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.642	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		43	175	0	0	0	1	0	43	175				
GOLGA6L7P	728310	broad.mit.edu	37	15	29093718	29093718	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29093718T>G	ENST00000569815.1	-	0	103					NR_047567.1				golgin A6 family-like 7, pseudogene																		GTGGTGGGGTTGGGGTCACAT	0.562																																						ENST00000569815.1																			0																																																			0							g.chr15:29093718T>G	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29093718T>G								NR_047567.1						0	103	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.562	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		6	28	0	0	0	1	0	6	28				
UBE3B	89910	broad.mit.edu	37	12	109959007	109959007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109959007C>T	ENST00000342494.3	+	20	2726	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	711	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGGGTCATCCGTGTGAAGTT	0.502																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(2131-2133)Cgt>Tgt		ubiquitin protein ligase E3B							128.0	115.0	119.0					12																	109959007		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109959007C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2131C>T	12.37:g.109959007C>T	ENSP00000340596:p.Arg711Cys					UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	p.R711C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			20	2726	+			711			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.2131C>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980821	0.74474	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.46819	0.86;0.86;0.86	5.93	5.93	0.95920	HECT (3);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77882	-0.2422	10	0.87932	D	0	-7.1982	14.774	0.69703	0.1532:0.8468:0.0:0.0	.	711	Q7Z3V4	UBE3B_HUMAN	C	711;711;711;138;6	ENSP00000391529:R711C;ENSP00000443131:R711C;ENSP00000340596:R711C	ENSP00000340596:R711C	R	+	1	0	UBE3B	108443390	1.000000	0.71417	0.999000	0.59377	0.237000	0.25408	4.473000	0.60196	2.810000	0.96702	0.655000	0.94253	CGT		0.502	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		145	490	0	0	0	1	0	145	490				
FLT4	2324	broad.mit.edu	37	5	180038401	180038401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180038401C>T	ENST00000261937.6	-	27	3694	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T|FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1206					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTGTAGGGCCATGGTGGAC	0.667																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3616-3618)Gcc>Acc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						82.0	84.0	84.0					5																	180038401		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180038401C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3616G>A	5.37:g.180038401C>T	ENSP00000261937:p.Ala1206Thr					FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T|FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T	p.A1206T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	27	3694	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1206					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3616G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	8.093	0.774853	0.16051	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77229	-1.08;-1.08;-1.07	4.48	4.48	0.54585	.	.	.	.	.	T	0.54886	0.1886	N	0.08118	0	0.38878	D	0.956844	B;B	0.33549	0.286;0.417	B;B	0.29598	0.103;0.104	T	0.57087	-0.7871	9	0.22109	T	0.4	.	10.5112	0.44864	0.0:0.9099:0.0:0.0901	.	1206;1206	E9PD35;P35916	.;VGFR3_HUMAN	T	1206	ENSP00000261937:A1206T;ENSP00000377016:A1206T;ENSP00000426057:A1206T	ENSP00000261937:A1206T	A	-	1	0	FLT4	179971007	0.998000	0.40836	0.929000	0.37066	0.018000	0.09664	4.128000	0.57951	2.492000	0.84095	0.555000	0.69702	GCC		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			64	706	0	0	0	1	0	64	706				
CUL5	8065	broad.mit.edu	37	11	107923465	107923465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107923465C>T	ENST00000393094.2	+	5	1106	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	164					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAAGCTGGTACATGCTGAGAG	0.353																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(490-492)Cat>Tat		cullin 5							113.0	111.0	112.0					11																	107923465		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107923465C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.490C>T	11.37:g.107923465C>T	ENSP00000376808:p.His164Tyr						p.H164Y	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	5	1106	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	164					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.490C>T	CCDS31668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159761|3.159761	0.57368|0.57368	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000393094|ENST00000532782	T|.	0.30448|.	1.53|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.71474|0.71474	-0.4582|-0.4582	10|5	0.59425|.	D|.	0.04|.	-15.6841|-15.6841	19.6572|19.6572	0.95847|0.95847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	164|.	Q93034|.	CUL5_HUMAN|.	Y|I	164|60	ENSP00000376808:H164Y|.	ENSP00000376808:H164Y|.	H|T	+|+	1|2	0|0	CUL5|CUL5	107428675|107428675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.786000|7.786000	0.85741|0.85741	2.651000|2.651000	0.90000|0.90000	0.549000|0.549000	0.68633|0.68633	CAT|ACA		0.353	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			22	150	0	0	0	1	0	22	150				
ZCCHC4	29063	broad.mit.edu	37	4	25363599	25363599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25363599A>G	ENST00000302874.4	+	9	1154	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	377							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAGAAGGGTACAGGTAAGAT	0.383																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1129-1131)tAc>tGc		zinc finger, CCHC domain containing 4							55.0	50.0	52.0					4																	25363599		1863	4104	5967	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25363599A>G	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1130A>G	4.37:g.25363599A>G	ENSP00000303468:p.Tyr377Cys						p.Y377C	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			9	1154	+		Breast(46;0.0503)	377					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.1130A>G	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210568	0.79240	.	.	ENSG00000168228	ENST00000302874	T	0.36520	1.25	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.67612	-0.5626	10	0.87932	D	0	-9.4566	15.0981	0.72250	1.0:0.0:0.0:0.0	.	377	Q9H5U6	ZCHC4_HUMAN	C	377	ENSP00000303468:Y377C	ENSP00000303468:Y377C	Y	+	2	0	ZCCHC4	24972697	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.582000	0.82546	2.266000	0.75297	0.533000	0.62120	TAC		0.383	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			7	131	0	0	0	1	0	7	131				
ARHGEF12	23365	broad.mit.edu	37	11	120347416	120347416	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120347416G>T	ENST00000397843.2	+	34	3490	c.3324G>T	c.(3322-3324)caG>caT	p.Q1108H	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGGCGCTCAGATTTATGAAC	0.383			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3322-3324)caG>caT		Rho guanine nucleotide exchange factor (GEF) 12							123.0	117.0	119.0					11																	120347416		1863	4114	5977	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120347416G>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3324G>T	11.37:g.120347416G>T	ENSP00000380942:p.Gln1108His					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H	p.Q1108H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	34	3490	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1108			PH.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3324G>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279255	0.40294	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.46063	0.88;0.88;0.88	5.1	-1.08	0.09936	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.38217	U	0.001761	T	0.29817	0.0745	L	0.55017	1.72	0.58432	D	0.999998	B;B;B	0.30973	0.302;0.094;0.057	B;B;B	0.28385	0.089;0.044;0.02	T	0.03641	-1.1017	10	0.52906	T	0.07	-12.5972	4.5858	0.12282	0.2541:0.1396:0.4849:0.1215	.	1005;1089;1108	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	1108;1089;1005	ENSP00000380942:Q1108H;ENSP00000349056:Q1089H;ENSP00000432984:Q1005H	ENSP00000349056:Q1089H	Q	+	3	2	ARHGEF12	119852626	0.900000	0.30661	0.997000	0.53966	0.971000	0.66376	-0.026000	0.12392	-0.153000	0.11137	-0.471000	0.05019	CAG		0.383	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		63	286	1	0	9.12251e-31	1	1.07152e-30	63	286				
NFIC	4782	broad.mit.edu	37	19	3452485	3452485	+	Missense_Mutation	SNP	G	G	A	rs552912326	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3452485G>A	ENST00000443272.2	+	8	1141	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	NFIC_ENST00000341919.3_Missense_Mutation_p.A364T|NFIC_ENST00000589123.1_Missense_Mutation_p.A355T|NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T|NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	364					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGCAGGGATCGCCCGGAGCCC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		13230	0.0		0.0	False		,,,				2504	0.002					ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1063-1065)Gcc>Acc		nuclear factor I/C (CCAAT-binding transcription factor)							163.0	160.0	161.0					19																	3452485		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452485G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1090G>A	19.37:g.3452485G>A	ENSP00000396843:p.Ala364Thr					NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T|NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000443272.2_Missense_Mutation_p.A364T|NFIC_ENST00000341919.3_Missense_Mutation_p.A364T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T	p.A355T	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	8	1183	+		Hepatocellular(1079;0.137)	364					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.1063G>A	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665287	0.29604	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.46063	0.88;0.88;0.88	4.16	3.12	0.35913	.	0.208639	0.40908	N	0.001000	T	0.30634	0.0771	L	0.39020	1.185	0.28084	N	0.932087	B;B;B;B;B	0.23377	0.044;0.084;0.007;0.007;0.017	B;B;B;B;B	0.17979	0.01;0.02;0.004;0.004;0.012	T	0.15521	-1.0434	10	0.30078	T	0.28	.	10.8694	0.46875	0.0944:0.0:0.9056:0.0	.	364;364;355;364;355	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	T	355;355;331;364;364;364	ENSP00000378543:A355T;ENSP00000301935:A331T;ENSP00000342194:A364T	ENSP00000269778:A364T	A	+	1	0	NFIC	3403485	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.666000	0.46799	0.757000	0.33036	-0.226000	0.12346	GCC		0.652	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		308	1403	0	0	0	1	0	308	1403				
MEGF8	1954	broad.mit.edu	37	19	42837896	42837896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42837896G>A	ENST00000251268.6	+	2	327	c.327G>A	c.(325-327)ccG>ccA	p.P109P	MEGF8_ENST00000334370.4_Silent_p.P109P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	109	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCGACCTCCGCCCATCGAAG	0.582																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(325-327)ccG>ccA		multiple EGF-like-domains 8							52.0	56.0	55.0					19																	42837896		2077	4211	6288	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42837896G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.327G>A	19.37:g.42837896G>A						MEGF8_ENST00000251268.6_Silent_p.P109P	p.P109P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			2	962	+		Prostate(69;0.00682)	109			CUB 1.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.327G>A																																																																																					0.582	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		48	245	0	0	0	1	0	48	245				
ELF3	1999	broad.mit.edu	37	1	201982144	201982144	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201982144A>G	ENST00000359651.3	+	5	3860	c.668A>G	c.(667-669)gAt>gGt	p.D223G	ELF3_ENST00000367284.5_Missense_Mutation_p.D223G|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D223G|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATCCCACTGATGGCAAGCTC	0.637																																						ENST00000359651.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(667-669)gAt>gGt		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							46.0	46.0	46.0					1																	201982144		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982144A>G	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.668A>G	1.37:g.201982144A>G	ENSP00000352673:p.Asp223Gly					ELF3_ENST00000367283.3_Missense_Mutation_p.D223G|ELF3_ENST00000367284.5_Missense_Mutation_p.D223G|RP11-510N19.5_ENST00000504773.1_RNA	p.D223G			P78545	ELF3_HUMAN			5	3860	+			223						Missense_Mutation	SNP	ENST00000359651.3	37	c.668A>G	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425493	0.25639	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.53423	2.43;2.43;2.43;0.62	5.37	4.22	0.49857	.	50.140900	0.01575	U	0.020794	T	0.48259	0.1490	M	0.68317	2.08	0.21064	N	0.999799	P	0.36282	0.546	B	0.31614	0.133	T	0.37103	-0.9720	10	0.22109	T	0.4	.	9.9729	0.41765	0.9223:0.0:0.0777:0.0	.	223	P78545	ELF3_HUMAN	G	223;223;223;200;221	ENSP00000352673:D223G;ENSP00000356253:D223G;ENSP00000356252:D223G;ENSP00000405162:D221G	ENSP00000311348:D200G	D	+	2	0	ELF3	200248767	1.000000	0.71417	0.343000	0.25615	0.125000	0.20455	6.381000	0.73163	0.858000	0.35431	0.459000	0.35465	GAT		0.637	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		60	196	0	0	0	1	0	60	196				
AXL	558	broad.mit.edu	37	19	41726619	41726619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726619G>A	ENST00000301178.4	+	2	354	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Missense_Mutation_p.R55Q	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	55	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGCACCCTTCGGTGTCAGCTC	0.637																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(163-165)cGg>cAg		AXL receptor tyrosine kinase							39.0	39.0	39.0					19																	41726619		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726619G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.164G>A	19.37:g.41726619G>A	ENSP00000301178:p.Arg55Gln					AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.R55Q	p.R55Q	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			2	354	+			55			Ig-like C2-type 1.|Interaction with GAS6.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.164G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026763	0.35797	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.64991	-0.13;-0.13	4.47	0.619	0.17630	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547984	0.15876	N	0.240296	T	0.46444	0.1393	L	0.38531	1.155	0.29834	N	0.829806	B;B	0.19445	0.029;0.036	B;B	0.08055	0.002;0.003	T	0.39603	-0.9606	10	0.49607	T	0.09	-7.5574	6.9495	0.24538	0.3347:0.0:0.6653:0.0	.	55;55	P30530-2;P30530	.;UFO_HUMAN	Q	55	ENSP00000301178:R55Q;ENSP00000351995:R55Q	ENSP00000301178:R55Q	R	+	2	0	AXL	46418459	0.308000	0.24509	0.993000	0.49108	0.743000	0.42351	0.693000	0.25497	0.063000	0.16370	0.175000	0.17021	CGG		0.637	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			32	96	0	0	0	1	0	32	96				
WIPF2	147179	broad.mit.edu	37	17	38421339	38421339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38421339C>T	ENST00000323571.4	+	5	1151	c.911C>T	c.(910-912)cCa>cTa	p.P304L	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	304					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCGGCCTCCCCATCTTTACTG	0.582										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(910-912)cCa>cTa		WAS/WASL interacting protein family, member 2							49.0	56.0	53.0					17																	38421339		2201	4299	6500	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421339C>T	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.911C>T	17.37:g.38421339C>T	ENSP00000320924:p.Pro304Leu	HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L	p.P304L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	1151	+			304					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.911C>T	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190324	0.21954	.	.	ENSG00000171475	ENST00000323571	T	0.33438	1.41	5.82	5.82	0.92795	.	0.125722	0.64402	D	0.000020	T	0.17152	0.0412	N	0.11255	0.115	0.80722	D	1	B	0.17038	0.02	B	0.15052	0.012	T	0.12400	-1.0549	10	0.20046	T	0.44	-7.7117	13.026	0.58814	0.0:0.9261:0.0:0.0739	.	304	Q8TF74	WIPF2_HUMAN	L	304	ENSP00000320924:P304L	ENSP00000320924:P304L	P	+	2	0	WIPF2	35674865	0.776000	0.28616	0.995000	0.50966	0.892000	0.51952	4.679000	0.61649	2.767000	0.95098	0.555000	0.69702	CCA		0.582	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		117	572	0	0	0	1	0	117	572				
SIGLEC1	6614	broad.mit.edu	37	20	3673398	3673398	+	Missense_Mutation	SNP	G	G	A	rs150431597		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673398G>A	ENST00000344754.4	-	15	3799	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1267	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGCCTCCGGAGCCAGGAT	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3799-3801)cCg>cTg		sialic acid binding Ig-like lectin 1, sialoadhesin		G	LEU/PRO	0,4406		0,0,2203	35.0	35.0	35.0		3800	4.8	0.4	20	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SIGLEC1	NM_023068.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1267/1710	3673398	1,13005	2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673398G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3800C>T	20.37:g.3673398G>A	ENSP00000341141:p.Pro1267Leu					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			15	3799	-			1267			Ig-like C2-type 13.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3800C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199195	0.38806	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.14144	2.53;2.53	5.74	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36628	N	0.002482	T	0.44222	0.1283	M	0.92169	3.28	0.27153	N	0.961358	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.50767	-0.8789	10	0.29301	T	0.29	.	12.6884	0.56960	0.0:0.1658:0.8342:0.0	.	1267;1267	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	L	1267	ENSP00000341141:P1267L;ENSP00000202578:P1267L	ENSP00000202578:P1267L	P	-	2	0	SIGLEC1	3621398	0.998000	0.40836	0.438000	0.26821	0.042000	0.13812	5.600000	0.67599	1.405000	0.46838	0.561000	0.74099	CCG		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		75	238	0	0	0	1	0	75	238				
TMEM165	55858	broad.mit.edu	37	4	56283999	56283999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56283999G>A	ENST00000381334.5	+	4	872	c.639G>A	c.(637-639)ccG>ccA	p.P213P	TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	213					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAAATGGACCGGGAGATGTTG	0.333																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(637-639)ccG>ccA		transmembrane protein 165							79.0	80.0	80.0					4																	56283999		2203	4300	6503	SO:0001819	synonymous_variant	55858					integral to membrane		g.chr4:56283999G>A	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.639G>A	4.37:g.56283999G>A						TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR	p.P213P	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		4	872	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		213					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	ENST00000381334.5	37	c.639G>A	CCDS3499.1																																																																																				0.333	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		37	147	0	0	0	1	0	37	147				
IGSF9B	22997	broad.mit.edu	37	11	133815997	133815997	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133815997T>G	ENST00000321016.8	-	2	451	c.221A>C	c.(220-222)aAg>aCg	p.K74T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.K74T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	74	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTAGCCAAACTTGATGAAGAT	0.617																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(220-222)aAg>aCg		immunoglobulin superfamily, member 9B							53.0	64.0	61.0					11																	133815997		2106	4210	6316	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133815997T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.221A>C	11.37:g.133815997T>G	ENSP00000317980:p.Lys74Thr					IGSF9B_ENST00000533871.2_Missense_Mutation_p.K74T	p.K74T			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	2	451	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	74			Ig-like 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.221A>C		.	.	.	.	.	.	.	.	.	.	T	28.1	4.886483	0.91814	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.073665	0.51477	D	0.000096	T	0.65133	0.2662	L	0.28458	0.855	0.42028	D	0.991012	P	0.43662	0.814	P	0.55508	0.777	T	0.62506	-0.6840	10	0.28530	T	0.3	.	15.5994	0.76613	0.0:0.0:0.0:1.0	.	74	Q9UPX0	TUTLB_HUMAN	T	74;74;64;121	ENSP00000317980:K74T;ENSP00000436576:K74T;ENSP00000434026:K64T;ENSP00000435989:K121T	ENSP00000317980:K74T	K	-	2	0	IGSF9B	133321207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.938000	0.87678	2.175000	0.68902	0.533000	0.62120	AAG		0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		7	64	0	0	0	1	0	7	64				
SDF4	51150	broad.mit.edu	37	1	1154014	1154014	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1154014C>T	ENST00000360001.6	-	6	999		c.e6-1		SDF4_ENST00000263741.7_Splice_Site			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4						calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCGTCCTGGTCTGCGAGACGG	0.677																																						ENST00000263741.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.e6-1		stromal cell derived factor 4							75.0	78.0	77.0					1																	1154014		2203	4300	6503	SO:0001630	splice_region_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1154014C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.737-1G>A	1.37:g.1154014C>T						SDF4_ENST00000360001.6_Splice_Site		NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	6	1029	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Splice_Site	SNP	ENST00000360001.6	37		CCDS30553.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.668782	0.29604	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000403997	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2798	0.82670	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDF4	1143877	1.000000	0.71417	0.987000	0.45799	0.027000	0.11550	6.972000	0.76110	2.058000	0.61347	0.305000	0.20034	.		0.677	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176	Intron	45	302	0	0	0	1	0	45	302				
TMPRSS11E	28983	broad.mit.edu	37	4	69344605	69344605	+	Missense_Mutation	SNP	C	C	T	rs138430854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69344605C>T	ENST00000305363.4	+	9	1070	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	336	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L336F(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAGGTGACTCTCATAGACGC	0.353																																						ENST00000305363.4																			1	Substitution - Missense(1)	p.L336F(1)	skin(1)	endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(1006-1008)Ctc>Ttc		transmembrane protease, serine 11E							161.0	154.0	157.0					4																	69344605		2203	4300	6503	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344605C>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1006C>T	4.37:g.69344605C>T	ENSP00000307519:p.Leu336Phe						p.L336F	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			9	1070	+			336			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.1006C>T	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	7.683	0.689438	0.14973	.	.	ENSG00000087128	ENST00000305363	D	0.90004	-2.6	5.31	0.312	0.15837	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.200210	0.06213	N	0.685374	D	0.87116	0.6097	M	0.76838	2.35	0.09310	N	0.999998	B	0.17667	0.023	B	0.19148	0.024	T	0.72836	-0.4172	10	0.56958	D	0.05	.	3.2715	0.06883	0.2626:0.3631:0.0:0.3743	.	336	Q9UL52	TM11E_HUMAN	F	336	ENSP00000307519:L336F	ENSP00000307519:L336F	L	+	1	0	TMPRSS11E	69027200	0.000000	0.05858	0.093000	0.20910	0.342000	0.28953	-0.337000	0.07852	0.316000	0.23135	0.655000	0.94253	CTC		0.353	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		131	630	0	0	0	1	0	131	630				
TAF15	8148	broad.mit.edu	37	17	34171486	34171486	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171486C>T	ENST00000588240.1	+	15	1298	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TAF15_ENST00000311979.3_Missense_Mutation_p.R392W|TAF15_ENST00000592237.1_Missense_Mutation_p.R304W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	33					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGCAGATTTCCGGGGGAGAGG	0.542			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1183-1185)Cgg>Tgg		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							110.0	122.0	118.0					17																	34171486		2202	4299	6501	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171486C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1183C>T	17.37:g.34171486C>T	ENSP00000466950:p.Arg395Trp					TAF15_ENST00000311979.3_Missense_Mutation_p.R392W|TAF15_ENST00000592237.1_Missense_Mutation_p.R304W	p.R395W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1298	+		Ovarian(249;0.17)	395			Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1183C>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915436	0.33815	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.0	4.01	0.46588	.	.	.	.	.	T	0.30135	0.0755	N	0.08118	0	0.38188	D	0.939823	B;B	0.24618	0.065;0.107	B;B	0.13407	0.004;0.009	T	0.19063	-1.0317	8	0.66056	D	0.02	-5.036	8.4932	0.33112	0.1747:0.6565:0.1688:0.0	.	395;392	Q92804;Q92804-2	RBP56_HUMAN;.	W	395;198	.	ENSP00000309558:R395W	R	+	1	2	TAF15	31195599	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	4.587000	0.60991	1.090000	0.41315	0.591000	0.81541	CGG		0.542	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		184	708	0	0	0	1	0	184	708				
KRT15	3866	broad.mit.edu	37	17	39671904	39671904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39671904C>T	ENST00000254043.3	-	6	4652	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	KRT15_ENST00000393981.3_Missense_Mutation_p.R191H|KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393976.2_Missense_Mutation_p.R356H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	356	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGTGGCATAGCGGCACTCTGT	0.597																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1066-1068)cGc>cAc		keratin 15							67.0	60.0	62.0					17																	39671904		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39671904C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1067G>A	17.37:g.39671904C>T	ENSP00000254043:p.Arg356His					KRT15_ENST00000393981.3_Missense_Mutation_p.R191H|KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393976.2_Missense_Mutation_p.R356H	p.R356H	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			6	4652	-		Breast(137;0.000286)	356			Coil 2.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.1067G>A	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624215	0.87560	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	4.74	4.74	0.60224	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95277	0.8468	M	0.85945	2.785	0.53005	D	0.999963	D;D;D	0.89917	1.0;0.982;0.982	D;P;P	0.97110	1.0;0.749;0.749	D	0.95576	0.8642	10	0.72032	D	0.01	.	13.3192	0.60424	0.0:0.9218:0.0:0.0782	.	191;356;356	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	H	356;191;356;191;191	ENSP00000254043:R356H;ENSP00000377544:R191H;ENSP00000377546:R356H;ENSP00000377550:R191H;ENSP00000409282:R191H	ENSP00000254043:R356H	R	-	2	0	KRT15	36925430	0.636000	0.27207	1.000000	0.80357	0.966000	0.64601	3.180000	0.50895	2.447000	0.82792	0.655000	0.94253	CGC		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		71	314	0	0	0	1	0	71	314				
EIF4G3	8672	broad.mit.edu	37	1	21133870	21133870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21133870G>A	ENST00000264211.8	-	31	4894	c.4700C>T	c.(4699-4701)tCt>tTt	p.S1567F	EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S1573F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1567	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGCCGTGACAGATTTCAGAGC	0.463																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(4717-4719)tCt>tTt		eukaryotic translation initiation factor 4 gamma, 3							197.0	196.0	196.0					1																	21133870		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21133870G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4700C>T	1.37:g.21133870G>A	ENSP00000264211:p.Ser1567Phe					EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S1567F|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F	p.S1573F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	35	5301	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1567			EIF4A-binding (By similarity).|Necessary but not sufficient for MKNK1- binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.4718C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505352	0.85282	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.6	5.6	0.85130	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;0.996;0.999;1.0	D	0.93073	0.6484	10	0.87932	D	0	-15.8192	19.6136	0.95619	0.0:0.0:1.0:0.0	.	1762;1287;1171;1573;1567	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	1567;1763;1567;1287;1057;1573;1171	ENSP00000264211:S1567F;ENSP00000383274:S1567F;ENSP00000364071:S1287F;ENSP00000442010:S1057F;ENSP00000364073:S1573F;ENSP00000444693:S1171F	ENSP00000264211:S1567F	S	-	2	0	EIF4G3	21006457	1.000000	0.71417	0.860000	0.33809	0.995000	0.86356	9.835000	0.99442	2.641000	0.89580	0.585000	0.79938	TCT		0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		196	780	0	0	0	1	0	196	780				
CDH1	999	broad.mit.edu	37	16	68863587	68863587	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68863587C>A	ENST00000261769.5	+	15	2517	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L715M	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	776					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCACAGGGGCCTGGACGCTCG	0.507			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		0				NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(2326-2328)Ctg>Atg		cadherin 1, type 1, E-cadherin (epithelial)							74.0	63.0	67.0					16																	68863587		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68863587C>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2326C>A	16.37:g.68863587C>A	ENSP00000261769:p.Leu776Met					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L715M	p.L776M	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	15	2517	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	776					A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.2326C>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753410	0.89753	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.77358	-1.09;-1.09	5.94	5.94	0.96194	Cadherin, cytoplasmic domain (1);	0.000000	0.40064	N	0.001183	D	0.88100	0.6346	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86591	0.1860	10	0.46703	T	0.11	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	715;776	Q9UII8;P12830	.;CADH1_HUMAN	M	776;794;715	ENSP00000261769:L776M;ENSP00000414946:L715M	ENSP00000261769:L776M	L	+	1	2	CDH1	67421088	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.855000	0.62925	2.826000	0.97356	0.561000	0.74099	CTG		0.507	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		51	240	1	0	1.32667e-27	1	1.53764e-27	51	240				
FAM83H	286077	broad.mit.edu	37	8	144810228	144810228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144810228C>T	ENST00000388913.3	-	5	1528	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	468					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTTGCGGGCGCGCCGGCGT	0.706																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(1402-1404)cGc>cAc		family with sequence similarity 83, member H							24.0	36.0	32.0					8																	144810228		2077	4183	6260	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810228C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1403G>A	8.37:g.144810228C>T	ENSP00000373565:p.Arg468His						p.R468H	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1528	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		468					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.1403G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	N	14.37	2.515846	0.44763	.	.	ENSG00000180921	ENST00000388913	T	0.17370	2.28	4.87	4.87	0.63330	.	0.336100	0.23452	U	0.048022	T	0.31606	0.0802	L	0.34521	1.04	0.21105	N	0.99979	D	0.89917	1.0	D	0.68621	0.959	T	0.09015	-1.0694	10	0.87932	D	0	.	16.9983	0.86375	0.0:1.0:0.0:0.0	.	468	Q6ZRV2	FA83H_HUMAN	H	468	ENSP00000373565:R468H	ENSP00000373565:R468H	R	-	2	0	FAM83H	144882216	0.590000	0.26815	0.971000	0.41717	0.114000	0.19823	2.320000	0.43797	2.234000	0.73211	0.555000	0.69702	CGC		0.706	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		10	237	0	0	0	1	0	10	237				
STK35	140901	broad.mit.edu	37	20	2097346	2097346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2097346C>T	ENST00000381482.3	+	3	1198	c.927C>T	c.(925-927)tgC>tgT	p.C309C	STK35_ENST00000246032.3_Silent_p.C176C|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AGGAGCCCTGCTATCTCTGGT	0.473																																						ENST00000381482.3																			0				large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(925-927)tgC>tgT		serine/threonine kinase 35							193.0	183.0	186.0					20																	2097346		2203	4300	6503	SO:0001819	synonymous_variant	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097346C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.927C>T	20.37:g.2097346C>T						STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Silent_p.C176C	p.C309C			Q8TDR2	STK35_HUMAN			3	1198	+			309			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	ENST00000381482.3	37	c.927C>T	CCDS13024.2																																																																																				0.473	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		121	577	0	0	0	1	0	121	577				
SOGA1	140710	broad.mit.edu	37	20	35443843	35443843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35443843C>T	ENST00000357779.3	-	5	1614	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	SOGA1_ENST00000279034.6_Missense_Mutation_p.D430N|SOGA1_ENST00000456801.2_Missense_Mutation_p.D271N|SOGA1_ENST00000237536.4_Missense_Mutation_p.D668N			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	430					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ACCAGGACATCGATGGCCTTA	0.647																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2002-2004)Gat>Aat		suppressor of glucose, autophagy associated 1							25.0	26.0	25.0					20																	35443843		2203	4300	6503	SO:0001583	missense	140710							g.chr20:35443843C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1288G>A	20.37:g.35443843C>T	ENSP00000350424:p.Asp430Asn					SOGA1_ENST00000456801.2_Missense_Mutation_p.D271N|SOGA1_ENST00000357779.3_Missense_Mutation_p.D430N|SOGA1_ENST00000279034.5_Missense_Mutation_p.D430N	p.D668N	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2343	-			430					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2002G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427449	0.83667	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.22336	1.97;1.96;1.97;2.0	4.86	3.92	0.45320	.	0.289003	0.38605	N	0.001625	T	0.37320	0.0999	L	0.50333	1.59	0.33645	D	0.607728	D	0.89917	1.0	D	0.73708	0.981	T	0.50171	-0.8859	10	0.40728	T	0.16	-20.361	12.312	0.54933	0.0:0.9164:0.0:0.0836	.	430	O94964-4	.	N	668;430;271;430	ENSP00000237536:D668N;ENSP00000279034:D430N;ENSP00000413886:D271N;ENSP00000350424:D430N	ENSP00000237536:D668N	D	-	1	0	KIAA0889	34877257	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	3.353000	0.52247	1.274000	0.44362	0.561000	0.74099	GAT		0.647	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		15	69	0	0	0	1	0	15	69				
GAB2	9846	broad.mit.edu	37	11	77931441	77931441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77931441G>A	ENST00000361507.4	-	9	1896	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	604					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTTCTTAGGGGCAGGACTGTT	0.582																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1810-1812)gCc>gTc		GRB2-associated binding protein 2							80.0	76.0	77.0					11																	77931441		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77931441G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1811C>T	11.37:g.77931441G>A	ENSP00000354952:p.Ala604Val					GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	p.A604V	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		9	1896	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		604					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1811C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205475	0.58234	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.19806	2.12;2.12	5.61	5.61	0.85477	.	0.067531	0.64402	U	0.000018	T	0.40979	0.1139	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.18429	-1.0337	10	0.07325	T	0.83	-25.4457	20.0018	0.97417	0.0:0.0:1.0:0.0	.	604	Q9UQC2	GAB2_HUMAN	V	566;604	ENSP00000343959:A566V;ENSP00000354952:A604V	ENSP00000343959:A566V	A	-	2	0	GAB2	77609089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.793000	0.96121	0.655000	0.94253	GCC		0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		67	288	0	0	0	1	0	67	288				
BRMS1L	84312	broad.mit.edu	37	14	36295809	36295809	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36295809C>T	ENST00000216807.7	+	1	286	c.87C>T	c.(85-87)agC>agT	p.S29S	BRMS1L_ENST00000543183.1_5'UTR|RP11-317N8.5_ENST00000555918.1_RNA	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	29					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGGGGAGCAGCTCCGAGGACG	0.627																																						ENST00000216807.7																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(85-87)agC>agT		breast cancer metastasis-suppressor 1-like							89.0	60.0	69.0					14																	36295809		2203	4300	6503	SO:0001819	synonymous_variant	84312				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr14:36295809C>T	AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"""breast cancer metastasis-suppressor 1"""	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.87C>T	14.37:g.36295809C>T						RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	p.S29S	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)	1	286	+	Breast(36;0.137)|Hepatocellular(127;0.158)		29					A6NFW5|A6NH45|B2RD65|Q9BRI4	Silent	SNP	ENST00000216807.7	37	c.87C>T	CCDS32066.1																																																																																				0.627	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		16	77	0	0	0	1	0	16	77				
FPGS	2356	broad.mit.edu	37	9	130575822	130575822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575822C>T	ENST00000373247.2	+	15	1753	c.1703C>T	c.(1702-1704)aCt>aTt	p.T568I	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.T518I|FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|RP11-228B15.4_ENST00000439298.1_RNA	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	568					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GTGCTAGTCACTGGCAGCCTG	0.647																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(1552-1554)aCt>aTt		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						48.0	46.0	47.0					9																	130575822		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130575822C>T		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1703C>T	9.37:g.130575822C>T	ENSP00000362344:p.Thr568Ile					FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.T568I	p.T518I	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			15	1762	+			568					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.1553C>T	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939028	0.92526	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.23147	2.22;2.21;1.92	5.33	5.33	0.75918	Mur ligase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77101	-0.2712	10	0.87932	D	0	-15.9135	17.9954	0.89182	0.0:1.0:0.0:0.0	.	542;568	Q05932-4;Q05932	.;FOLC_HUMAN	I	568;542;518	ENSP00000362344:T568I;ENSP00000377309:T542I;ENSP00000362322:T518I	ENSP00000362322:T518I	T	+	2	0	FPGS	129615643	1.000000	0.71417	0.968000	0.41197	0.961000	0.63080	7.355000	0.79434	2.481000	0.83766	0.655000	0.94253	ACT		0.647	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			60	276	0	0	0	1	0	60	276				
HNRNPM	4670	broad.mit.edu	37	19	8555100	8555100	+	IGR	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555100T>G	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Missense_Mutation_p.E661D|PRAM1_ENST00000423345.4_Missense_Mutation_p.E662D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTGGTTGGTTTTCCAGGGGAT	0.687																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1984-1986)gaA>gaC		PML-RARA regulated adaptor molecule 1							28.0	36.0	33.0					19																	8555100		2173	4286	6459	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555100T>G	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555100T>G						PRAM1_ENST00000255612.3_Missense_Mutation_p.E661D	p.E662D			Q96QH2	PRAM_HUMAN			10	2506	-			710			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1986A>C	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	9.595	1.127164	0.20959	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15718	2.4;2.4	3.65	-7.31	0.01441	.	0.213794	0.23524	N	0.047246	T	0.04952	0.0133	N	0.12182	0.205	0.09310	N	1	B;B	0.18013	0.01;0.025	B;B	0.18561	0.015;0.022	T	0.19778	-1.0295	10	0.22109	T	0.4	.	1.7729	0.03016	0.1194:0.182:0.3141:0.3845	.	662;710	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	D	661;662	ENSP00000255612:E661D;ENSP00000408342:E662D	ENSP00000255612:E661D	E	-	3	2	PRAM1	8461100	0.007000	0.16637	0.009000	0.14445	0.036000	0.12997	-0.959000	0.03853	-1.379000	0.02118	-0.464000	0.05259	GAA		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			18	55	0	0	0	1	0	18	55				
MAST4	375449	broad.mit.edu	37	5	66448536	66448536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66448536C>T	ENST00000403625.2	+	25	3662	c.3367C>T	c.(3367-3369)Cga>Tga	p.R1123*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.R1126*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1126	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTCTTCTTCACGAGATTCCTC	0.522																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3376-3378)Cga>Tga		microtubule associated serine/threonine kinase family member 4							132.0	131.0	131.0					5																	66448536		1936	4150	6086	SO:0001587	stop_gained	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66448536C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3367C>T	5.37:g.66448536C>T	ENSP00000385727:p.Arg1123*					MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|MAST4_ENST00000403625.2_Nonsense_Mutation_p.R1123*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*	p.R1126*			O15021	MAST4_HUMAN		Lung(70;0.011)	25	3684	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1126			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_Mutation	SNP	ENST00000403625.2	37	c.3376C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.794146|8.794146	0.98956|0.98956	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399|ENST00000443808	.|.	.|.	.|.	6.17|6.17	3.31|3.31	0.37934|0.37934	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69984	.|0.3172	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72947	.|-0.4137	.|3	0.02654|.	T|.	1|.	-14.7051|-14.7051	15.8853|15.8853	0.79244|0.79244	0.6069:0.3931:0.0:0.0|0.6069:0.3931:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1126;1123;934;944;944;929;862|179	.|.	ENSP00000261569:R929X|.	R|T	+|+	1|2	2|0	MAST4|MAST4	66484292|66484292	0.660000|0.660000	0.27420|0.27420	0.775000|0.775000	0.31657|0.31657	0.995000|0.995000	0.86356|0.86356	1.386000|1.386000	0.34419|0.34419	0.400000|0.400000	0.25396|0.25396	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.522	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			128	624	0	0	0	1	0	128	624				
PTPRM	5797	broad.mit.edu	37	18	8252488	8252488	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8252488C>T	ENST00000332175.8	+	17	3564				PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000580170.1_Missense_Mutation_p.P853S|PTPRM_ENST00000400060.4_Intron	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTAAAAGTGCCAATAAATGG	0.428																																						ENST00000580170.1																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2557-2559)Cca>Tca		protein tyrosine phosphatase, receptor type, M							155.0	152.0	153.0					18																	8252488		1908	4127	6035	SO:0001627	intron_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8252488C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2528-737C>T	18.37:g.8252488C>T						PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400060.4_Intron|PTPRM_ENST00000332175.8_Intron	p.P853S	NM_001105244.1	NP_001098714.1	P28827	PTPRM_HUMAN			18	3594	+		Colorectal(10;0.234)	842					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2557C>T	CCDS11840.1																																																																																				0.428	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			45	284	0	0	0	1	0	45	284				
DCBLD2	131566	broad.mit.edu	37	3	98518287	98518287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518287G>A	ENST00000326840.6	-	16	2619	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	753					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGCTCTGTGGCACCTGGTAC	0.507																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(2257-2259)Cca>Tca		discoidin, CUB and LCCL domain containing 2							216.0	214.0	215.0					3																	98518287		1954	4160	6114	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518287G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2257C>T	3.37:g.98518287G>A	ENSP00000321573:p.Pro753Ser					DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	p.P753S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			16	2619	-			753					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.2257C>T	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103204	0.76983	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.30182	1.54;1.54	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.57142	-0.7862	10	0.51188	T	0.08	-16.0329	18.0345	0.89296	0.0:0.0:1.0:0.0	.	767;753	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	S	753;767	ENSP00000321573:P753S;ENSP00000321646:P767S	ENSP00000321573:P753S	P	-	1	0	DCBLD2	100000977	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	8.608000	0.90895	2.865000	0.98341	0.655000	0.94253	CCA		0.507	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		200	879	0	0	0	1	0	200	879				
EPHB4	2050	broad.mit.edu	37	7	100420043	100420043	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420043C>T	ENST00000358173.3	-	4	1126	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	220	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTACCGGCCACGGGCACA	0.662																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(658-660)Gcc>Acc		EPH receptor B4							31.0	33.0	32.0					7																	100420043		2203	4298	6501	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100420043C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.658G>A	7.37:g.100420043C>T	ENSP00000350896:p.Ala220Thr					EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T|EPHB4_ENST00000477446.1_5'UTR	p.A220T	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			4	1126	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		220			Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.658G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887613	0.33348	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73469	-0.75;-0.74	5.76	4.88	0.63580	.	0.000000	0.53938	D	0.000050	T	0.61751	0.2372	L	0.37850	1.14	0.30781	N	0.741949	B;B;P;P;P	0.40875	0.0;0.002;0.498;0.495;0.731	B;B;B;B;B	0.36464	0.0;0.001;0.115;0.169;0.225	T	0.67425	-0.5674	10	0.56958	D	0.05	.	8.5475	0.33430	0.0:0.7661:0.1522:0.0816	.	220;220;220;220;220	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	T	220	ENSP00000353833:A220T;ENSP00000350896:A220T	ENSP00000350896:A220T	A	-	1	0	EPHB4	100257979	0.998000	0.40836	0.973000	0.42090	0.006000	0.05464	2.879000	0.48522	1.432000	0.47375	0.655000	0.94253	GCC		0.662	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		15	50	0	0	0	1	0	15	50				
ERF	2077	broad.mit.edu	37	19	42753278	42753278	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753278C>T	ENST00000222329.4	-	4	1143	c.986G>A	c.(985-987)cGc>cAc	p.R329H	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.R254H|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	329					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGGAAGGCGCGGGGGCTGAG	0.682																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(985-987)cGc>cAc		Ets2 repressor factor							39.0	46.0	43.0					19																	42753278		2199	4290	6489	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753278C>T	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.986G>A	19.37:g.42753278C>T	ENSP00000222329:p.Arg329His					ERF_ENST00000440177.2_Missense_Mutation_p.R254H|AC006486.9_ENST00000594664.1_Intron	p.R329H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1143	-		Prostate(69;0.00682)	329					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.986G>A	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116673	0.77323	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.33865	1.39;1.39	4.82	3.78	0.43462	.	0.148471	0.44902	D	0.000416	T	0.52322	0.1727	L	0.57536	1.79	0.58432	D	0.99999	D	0.76494	0.999	D	0.76071	0.987	T	0.54302	-0.8314	10	0.87932	D	0	.	10.4326	0.44417	0.0:0.9038:0.0:0.0962	.	329	P50548	ERF_HUMAN	H	329;254	ENSP00000222329:R329H;ENSP00000388173:R254H	ENSP00000222329:R329H	R	-	2	0	ERF	47445118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.506000	0.66993	2.382000	0.81193	0.655000	0.94253	CGC		0.682	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		33	297	0	0	0	1	0	33	297				
CMTR2	55783	broad.mit.edu	37	16	71318457	71318457	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71318457T>G	ENST00000338099.5	-	3	1703	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	CMTR2_ENST00000434935.2_Missense_Mutation_p.K456T			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	456					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TACTTTATCTTTCCATGAAAG	0.353																																						ENST00000338099.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1366-1368)aAa>aCa									58.0	61.0	60.0					16																	71318457		2195	4298	6493	SO:0001583	missense	0					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71318457T>G	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1367A>C	16.37:g.71318457T>G	ENSP00000337512:p.Lys456Thr					FTSJD1_ENST00000434935.2_Missense_Mutation_p.K456T	p.K456T			Q8IYT2	FTSJ1_HUMAN			3	1703	-			456					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.1367A>C	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	6.637	0.485954	0.12641	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15487	2.42;2.42	5.95	2.28	0.28536	.	0.357917	0.31685	N	0.007233	T	0.11239	0.0274	L	0.38531	1.155	0.35059	D	0.761367	B	0.06786	0.001	B	0.09377	0.004	T	0.18053	-1.0349	10	0.23302	T	0.38	6.4172	6.6036	0.22714	0.0:0.137:0.3614:0.5016	.	456	Q8IYT2	FTSJ1_HUMAN	T	456	ENSP00000337512:K456T;ENSP00000411148:K456T	ENSP00000337512:K456T	K	-	2	0	FTSJD1	69875958	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.467000	0.35321	0.492000	0.27815	-0.537000	0.04273	AAA		0.353	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		72	314	0	0	0	1	0	72	314				
CCSER1	401145	broad.mit.edu	37	4	91230540	91230540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:91230540G>T	ENST00000509176.1	+	2	1393	c.1105G>T	c.(1105-1107)Gca>Tca	p.A369S	CCSER1_ENST00000333691.8_Missense_Mutation_p.A369S|CCSER1_ENST00000432775.2_Missense_Mutation_p.A369S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	369																	TAACCTACCAGCAGATAGTGA	0.408																																						ENST00000509176.1																			0											c.(1105-1107)Gca>Tca		coiled-coil serine-rich protein 1							102.0	96.0	98.0					4																	91230540		1834	4092	5926	SO:0001583	missense	401145							g.chr4:91230540G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1105G>T	4.37:g.91230540G>T	ENSP00000425040:p.Ala369Ser					CCSER1_ENST00000333691.8_Missense_Mutation_p.A369S|CCSER1_ENST00000432775.2_Missense_Mutation_p.A369S	p.A369S	NM_001145065.1	NP_001138537.1					2	1393	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1105G>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	3.136	-0.177356	0.06380	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.42900	1.51;0.96;1.51	4.72	1.95	0.26073	.	0.765331	0.11598	N	0.547988	T	0.24736	0.0600	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25904	0.0;0.069;0.137	B;B;B	0.29942	0.003;0.055;0.109	T	0.29852	-0.9998	10	0.12766	T	0.61	-1.2731	9.6144	0.39683	0.2405:0.0:0.7595:0.0	.	369;369;369	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	S	369	ENSP00000425040:A369S;ENSP00000389283:A369S;ENSP00000329482:A369S	ENSP00000329482:A369S	A	+	1	0	FAM190A	91449563	0.000000	0.05858	0.002000	0.10522	0.329000	0.28539	0.769000	0.26604	0.257000	0.21650	0.585000	0.79938	GCA		0.408	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		68	273	1	0	1.55545e-33	1	1.84439e-33	68	273				
RBM28	55131	broad.mit.edu	37	7	127975620	127975620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127975620C>T	ENST00000223073.2	-	8	1037	c.923G>A	c.(922-924)aGc>aAc	p.S308N	RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTCCTCAGTGCTGGTATCACT	0.423																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(922-924)aGc>aAc		RNA binding motif protein 28							114.0	104.0	108.0					7																	127975620		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127975620C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.923G>A	7.37:g.127975620C>T	ENSP00000223073:p.Ser308Asn					RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	p.S308N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			8	1037	-			308					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.923G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216529	0.22373	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061	T;T;T	0.21361	2.92;2.01;2.13	5.52	1.45	0.22620	.	0.603956	0.19156	N	0.121337	T	0.12178	0.0296	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32587	-0.9901	10	0.20046	T	0.44	-0.1468	7.9257	0.29872	0.0:0.6765:0.0:0.3235	.	167;308	E9PDD9;Q9NW13	.;RBM28_HUMAN	N	308;167;277	ENSP00000223073:S308N;ENSP00000390517:S167N;ENSP00000418071:S277N	ENSP00000223073:S308N	S	-	2	0	RBM28	127762856	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	0.157000	0.16402	0.023000	0.15187	0.561000	0.74099	AGC		0.423	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		59	234	0	0	0	1	0	59	234				
SLC52A1	55065	broad.mit.edu	37	17	4936291	4936291	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4936291A>G	ENST00000424747.1	-	5	2020	c.1308T>C	c.(1306-1308)ttT>ttC	p.F436F	SLC52A1_ENST00000512825.2_3'UTR|SLC52A1_ENST00000254853.5_Silent_p.F436F	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	436					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										TTCTGCTTTGAAACACGTGGT	0.632																																						ENST00000424747.1																			0											c.(1306-1308)ttT>ttC		solute carrier family 52 (riboflavin transporter), member 1							73.0	75.0	74.0					17																	4936291		2203	4300	6503	SO:0001819	synonymous_variant	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936291A>G	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1308T>C	17.37:g.4936291A>G						SLC52A1_ENST00000512825.2_3'UTR|SLC52A1_ENST00000254853.5_Silent_p.F436F	p.F436F	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN			5	2020	-			436					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Silent	SNP	ENST00000424747.1	37	c.1308T>C	CCDS11066.1																																																																																				0.632	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		57	202	0	0	0	1	0	57	202				
VDR	7421	broad.mit.edu	37	12	48238712	48238712	+	Silent	SNP	G	G	A	rs75590999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48238712G>A	ENST00000395324.2	-	10	1369	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	VDR_ENST00000550325.1_Silent_p.I417I|VDR_ENST00000535672.1_Silent_p.I335I|VDR_ENST00000229022.3_Silent_p.I367I|VDR_ENST00000549336.1_Silent_p.I367I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	367	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGGCAGCGGATGTACGTCT	0.632																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(1099-1101)atC>atT		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						104.0	113.0	110.0					12																	48238712		2203	4299	6502	SO:0001819	synonymous_variant	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48238712G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1101C>T	12.37:g.48238712G>A						VDR_ENST00000549336.1_Silent_p.I367I|VDR_ENST00000535672.1_Silent_p.I335I|VDR_ENST00000550325.1_Silent_p.I417I|VDR_ENST00000395324.2_Silent_p.I367I	p.I367I	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	11	1382	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	367			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.1101C>T	CCDS8757.1																																																																																				0.632	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			121	593	0	0	0	1	0	121	593				
C9orf152	401546	broad.mit.edu	37	9	112963456	112963456	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112963456C>T	ENST00000400613.4	-	2	1101	c.492G>A	c.(490-492)caG>caA	p.Q164Q	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	164										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCTGAGTCATCTGATTGGTTT	0.507																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(490-492)caG>caA		chromosome 9 open reading frame 152							204.0	187.0	193.0					9																	112963456		2203	4300	6503	SO:0001819	synonymous_variant	401546							g.chr9:112963456C>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.492G>A	9.37:g.112963456C>T						C9orf152_ENST00000473442.1_Intron	p.Q164Q	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN			2	1101	-			164					A8MWT6	Silent	SNP	ENST00000400613.4	37	c.492G>A	CCDS35102.2																																																																																				0.507	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		136	754	0	0	0	1	0	136	754				
NEK5	341676	broad.mit.edu	37	13	52686441	52686441	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52686441A>C	ENST00000355568.4	-	5	414	c.275T>G	c.(274-276)aTc>aGc	p.I92S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTGTCTATTGATCCTTTTCAT	0.358																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(274-276)aTc>aGc		NIMA-related kinase 5							138.0	126.0	130.0					13																	52686441		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52686441A>C	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.275T>G	13.37:g.52686441A>C	ENSP00000347767:p.Ile92Ser						p.I92S	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	5	414	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	92			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.275T>G	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949068	0.53186	.	.	ENSG00000197168	ENST00000355568	T	0.70986	-0.53	5.29	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081433	0.50627	D	0.000119	D	0.85758	0.5771	M	0.91406	3.205	0.42125	D	0.991441	D	0.89917	1.0	D	0.80764	0.994	D	0.87643	0.2523	10	0.87932	D	0	.	11.2021	0.48747	0.9276:0.0:0.0724:0.0	.	92	Q6P3R8	NEK5_HUMAN	S	92	ENSP00000347767:I92S	ENSP00000347767:I92S	I	-	2	0	NEK5	51584442	1.000000	0.71417	0.899000	0.35326	0.390000	0.30446	8.200000	0.89733	0.954000	0.37851	0.383000	0.25322	ATC		0.358	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		14	339	0	0	0	1	0	14	339				
NEB	4703	broad.mit.edu	37	2	152468847	152468847	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152468847G>A	ENST00000172853.10	-	74	11076	c.10929C>T	c.(10927-10929)ggC>ggT	p.G3643G	NEB_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000397345.3_Silent_p.G3886G|NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000427231.2_Silent_p.G3886G			P20929	NEBU_HUMAN	nebulin	3643					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTCTACAGAGCCAATGGGAA	0.438																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(11656-11658)ggC>ggT		nebulin							72.0	68.0	69.0					2																	152468847		1906	4140	6046	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152468847G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10929C>T	2.37:g.152468847G>A						NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000172853.10_Silent_p.G3643G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000427231.2_Silent_p.G3886G	p.G3886G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	78	11860	-			3886					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.11658C>T																																																																																					0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		16	221	0	0	0	1	0	16	221				
MDS2	259283	broad.mit.edu	37	1	23966239	23966239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23966239G>T	ENST00000374555.3	+	6	803	c.216G>T	c.(214-216)gaG>gaT	p.E72D	MDS2_ENST00000477916.1_3'UTR			Q8NDY4	MDS2_HUMAN	myelodysplastic syndrome 2 translocation associated	72						extracellular space (GO:0005615)				breast(1)|ovary(2)	3						TGACCCTGGAGAGGCCATTAA	0.592			T	ETV6	MDS																																	ENST00000374555.3				Dom	yes		1	1p36	259283	T	myelodysplastic syndrome 2			L	ETV6		MDS		0				breast(1)|ovary(2)	3						c.(214-216)gaG>gaT		myelodysplastic syndrome 2 translocation associated							13.0	11.0	12.0					1																	23966239		876	1989	2865	SO:0001583	missense	259283							g.chr1:23966239G>T	AJ310434		1p36	2008-02-05			ENSG00000197880	ENSG00000197880			29633	protein-coding gene	gene with protein product		607305				12203785	Standard	NR_027042		Approved		uc001bhi.3	Q8NDY4	OTTHUMG00000002927	ENST00000374555.3:c.216G>T	1.37:g.23966239G>T	ENSP00000363683:p.Glu72Asp					MDS2_ENST00000477916.1_3'UTR	p.E72D							6	803	+									Missense_Mutation	SNP	ENST00000374555.3	37	c.216G>T		.	.	.	.	.	.	.	.	.	.	G	5.644	0.303522	0.10678	.	.	ENSG00000197880	ENST00000374555	.	.	.	2.0	1.04	0.20106	.	.	.	.	.	T	0.39226	0.1070	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	5.655	0.17637	0.0:0.0:0.6784:0.3216	.	.	.	.	D	72	.	ENSP00000363683:E72D	E	+	3	2	MDS2	23838826	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.099000	0.15210	0.387000	0.25024	0.467000	0.42956	GAG		0.592	MDS2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008172.1	NM_148895		7	44	1	0	8.12818e-05	1	8.2724e-05	7	44				
ASIC2	40	broad.mit.edu	37	17	32483617	32483617	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32483617C>A	ENST00000359872.6	-	0	696					NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GCTCCCAGTCCTCGGGCTCTG	0.582																																						ENST00000359872.6																			0													acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																					40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483617C>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.-66G>T	17.37:g.32483617C>A								NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			0	696	-								E9PBX2|Q13553|Q6DJU1|Q8N3E2	Translation_Start_Site	SNP	ENST00000359872.6	37		CCDS42296.1																																																																																				0.582	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		10	64	1	0	2.17888e-05	1	2.22852e-05	10	64				
TAF1	6872	broad.mit.edu	37	X	70586298	70586298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70586298A>G	ENST00000373790.4	+	1	185	c.134A>G	c.(133-135)aAc>aGc	p.N45S	TAF1_ENST00000449580.1_Missense_Mutation_p.N45S|TAF1_ENST00000423759.1_Missense_Mutation_p.N45S|TAF1_ENST00000276072.3_Missense_Mutation_p.N45S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	45	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTTTTCGGCAACATCAATGGA	0.612																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(133-135)aAc>aGc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							34.0	34.0	34.0					X																	70586298		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70586298A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.134A>G	X.37:g.70586298A>G	ENSP00000362895:p.Asn45Ser					TAF1_ENST00000276072.3_Missense_Mutation_p.N45S|TAF1_ENST00000373790.4_Missense_Mutation_p.N45S|TAF1_ENST00000423759.1_Missense_Mutation_p.N45S	p.N45S			P21675	TAF1_HUMAN			1	185	+	Renal(35;0.156)	all_lung(315;0.000321)	45			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.134A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.836481	0.91117	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.49139	1.05;1.2;0.83;0.79	4.99	4.99	0.66335	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.80616	2.505	0.58432	D	0.999995	P;D	0.61697	0.897;0.99	P;D	0.63703	0.498;0.917	T	0.72364	-0.4316	10	0.87932	D	0	.	12.403	0.55424	1.0:0.0:0.0:0.0	.	45;45	P21675;P21675-2	TAF1_HUMAN;.	S	45	ENSP00000362895:N45S;ENSP00000389000:N45S;ENSP00000406549:N45S;ENSP00000276072:N45S	ENSP00000276072:N45S	N	+	2	0	TAF1	70503023	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.385000	0.90163	1.790000	0.52503	0.414000	0.27820	AAC		0.612	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		44	147	0	0	0	1	0	44	147				
PIK3R3	8503	broad.mit.edu	37	1	46509480	46509480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46509480C>T	ENST00000262741.5	-	10	1940	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E	PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000372006.1_Silent_p.E417E|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Silent_p.E358E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	417	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GGTTGTAGGGCTCTGCAAAGC	0.527																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(1249-1251)gaG>gaA		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							131.0	111.0	118.0					1																	46509480		2203	4300	6503	SO:0001819	synonymous_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46509480C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1251G>A	1.37:g.46509480C>T						PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000354242.4_Silent_p.E358E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000372006.1_Silent_p.E417E	p.E417E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			10	1940	-	Acute lymphoblastic leukemia(166;0.155)		417			SH2 2.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Silent	SNP	ENST00000262741.5	37	c.1251G>A	CCDS529.1																																																																																				0.527	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		30	139	0	0	0	1	0	30	139				
WFS1	7466	broad.mit.edu	37	4	6293694	6293694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6293694C>T	ENST00000226760.1	+	6	852	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	228					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGCAGAGGCGCATGCTGGA	0.647																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(682-684)Cgc>Tgc		Wolfram syndrome 1 (wolframin)							45.0	39.0	41.0					4																	6293694		2195	4298	6493	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6293694C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.682C>T	4.37:g.6293694C>T	ENSP00000226760:p.Arg228Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	6	852	+			228					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.682C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854440	0.71719	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.94966	-3.57;-3.57	4.37	3.46	0.39613	.	0.052887	0.64402	D	0.000001	D	0.95538	0.8550	L	0.54323	1.7	0.49130	D	0.99975	D	0.89917	1.0	D	0.75484	0.986	D	0.94871	0.8030	10	0.54805	T	0.06	-44.9845	11.1008	0.48172	0.3123:0.6877:0.0:0.0	.	228	O76024	WFS1_HUMAN	C	228	ENSP00000423337:R228C;ENSP00000226760:R228C	ENSP00000226760:R228C	R	+	1	0	WFS1	6344595	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.994000	0.49433	2.144000	0.66660	0.561000	0.74099	CGC		0.647	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			20	73	0	0	0	1	0	20	73				
REST	5978	broad.mit.edu	37	4	57796834	57796834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796834G>A	ENST00000309042.7	+	4	2124	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	604	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGTTGAGAAGGGATCTGCTCA	0.498																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1810-1812)Gga>Aga		RE1-silencing transcription factor							29.0	30.0	30.0					4																	57796834		2190	4285	6475	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796834G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1810G>A	4.37:g.57796834G>A	ENSP00000311816:p.Gly604Arg						p.G604R	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2124	+	Glioma(25;0.08)|all_neural(26;0.181)		604			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1810G>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738503	0.15574	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06849	3.25	4.23	4.23	0.50019	.	1.495820	0.04005	N	0.297113	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	0.999993	B;B	0.12013	0.004;0.005	B;B	0.18263	0.021;0.005	T	0.25984	-1.0116	10	0.37606	T	0.19	1.0E-4	14.3745	0.66865	0.0:0.0:1.0:0.0	.	581;604	F8WAN5;Q13127	.;REST_HUMAN	R	604;581	ENSP00000311816:G604R	ENSP00000311816:G604R	G	+	1	0	REST	57491591	0.024000	0.19004	0.011000	0.14972	0.003000	0.03518	1.939000	0.40213	2.273000	0.75805	0.491000	0.48974	GGA		0.498	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		40	169	0	0	0	1	0	40	169				
SLC1A1	6505	broad.mit.edu	37	9	4576732	4576732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576732G>T	ENST00000262352.3	+	10	1398	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	388					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GAATGACCTGGACTTGGGCAT	0.488																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.(1162-1164)Gac>Tac		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						203.0	180.0	188.0					9																	4576732		2203	4300	6503	SO:0001583	missense	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4576732G>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1162G>T	9.37:g.4576732G>T	ENSP00000262352:p.Asp388Tyr						p.D388Y	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	10	1398	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	388					O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	c.1162G>T	CCDS6452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614725|1.614725	0.28712|0.28712	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	T|.	0.60920|.	0.15|.	5.54|5.54	4.64|4.64	0.57946|0.57946	.|.	0.495607|.	0.23930|.	N|.	0.043142|.	T|T	0.72003|0.72003	0.3407|0.3407	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	B|.	0.26195|.	0.144|.	B|.	0.30646|.	0.118|.	T|T	0.72561|0.72561	-0.4256|-0.4256	10|5	0.56958|.	D|.	0.05|.	.|.	10.1483|10.1483	0.42778|0.42778	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	388|.	P43005|.	EAA3_HUMAN|.	Y|V	388|150	ENSP00000262352:D388Y|.	ENSP00000262352:D388Y|.	D|G	+|+	1|2	0|0	SLC1A1|SLC1A1	4566732|4566732	0.000000|0.000000	0.05858|0.05858	0.403000|0.403000	0.26384|0.26384	0.462000|0.462000	0.32619|0.32619	0.682000|0.682000	0.25335|0.25335	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.488	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			107	497	1	0	4.70087e-54	1	5.86491e-54	107	497				
RASGRP3	25780	broad.mit.edu	37	2	33783829	33783829	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783829G>A	ENST00000403687.3	+	17	2536	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	599					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GGCTCTTCTCGCAAGATCTCT	0.592																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1795-1797)cGc>cAc		RAS guanyl releasing protein 3 (calcium and DAG-regulated)																																				SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33783829G>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1796G>A	2.37:g.33783829G>A	ENSP00000384192:p.Arg599His					RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H|AC020594.5_ENST00000437680.1_RNA	p.R599H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			17	2536	+	all_hematologic(175;0.115)		599					D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1796G>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922374	0.52653	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.78481	-1.18;-1.18;-1.18	5.45	4.57	0.56435	.	0.268189	0.36703	N	0.002459	T	0.60547	0.2277	L	0.27053	0.805	0.32515	N	0.537021	P;P	0.43633	0.813;0.813	B;B	0.32864	0.154;0.154	T	0.69003	-0.5260	10	0.39692	T	0.17	-5.3184	10.9647	0.47406	0.1982:0.0:0.8018:0.0	.	598;599	D6W583;Q8IV61	.;GRP3_HUMAN	H	599;599;598	ENSP00000385886:R599H;ENSP00000384192:R599H;ENSP00000383917:R598H	ENSP00000385886:R599H	R	+	2	0	RASGRP3	33637333	0.988000	0.35896	0.998000	0.56505	0.997000	0.91878	3.486000	0.53215	1.278000	0.44430	0.650000	0.86243	CGC		0.592	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		15	324	0	0	0	1	0	15	324				
UBN2	254048	broad.mit.edu	37	7	138946167	138946167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138946167C>T	ENST00000473989.3	+	6	1075	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	UBN2_ENST00000288561.8_Missense_Mutation_p.P276S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	359						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATAAACCCCCATGTGCTGC	0.468																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(826-828)Cca>Tca		ubinuclein 2							73.0	74.0	74.0					7																	138946167		1872	4104	5976	SO:0001583	missense	254048							g.chr7:138946167C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1075C>T	7.37:g.138946167C>T	ENSP00000418648:p.Pro359Ser					UBN2_ENST00000473989.2_Missense_Mutation_p.P359S	p.P276S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			6	1075	+			359			Lys-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.826C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076166	0.36662	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.19394	2.15;2.15	6.08	5.2	0.72013	.	0.433070	0.27134	N	0.020763	T	0.19604	0.0471	L	0.52759	1.655	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.13953	-1.0490	9	.	.	.	-2.9185	10.8085	0.46531	0.0:0.8016:0.1305:0.0679	.	359	Q6ZU65	UBN2_HUMAN	S	359;276	ENSP00000418648:P359S;ENSP00000288561:P276S	.	P	+	1	0	UBN2	138596707	0.074000	0.21230	0.044000	0.18714	0.311000	0.27955	1.710000	0.37920	1.593000	0.50029	0.655000	0.94253	CCA		0.468	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		61	322	0	0	0	1	0	61	322				
ANKS3	124401	broad.mit.edu	37	16	4755101	4755101	+	Missense_Mutation	SNP	C	C	T	rs373599022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4755101C>T	ENST00000304283.4	-	8	1157	c.863G>A	c.(862-864)cGc>cAc	p.R288H	ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H|ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H|ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	288										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTCACCATAGCGAGGCCGTGG	0.597																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(862-864)cGc>cAc		ankyrin repeat and sterile alpha motif domain containing 3		C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	71.0	76.0	74.0		542,863	1.7	0.0	16		74	0,8598		0,0,4299	no	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	29,29	0,1,6494	TT,TC,CC		0.0,0.0228,0.0077	benign,benign	181/550,288/657	4755101	1,12989	2196	4299	6495	SO:0001583	missense	124401							g.chr16:4755101C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.863G>A	16.37:g.4755101C>T	ENSP00000304586:p.Arg288His					ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H|ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H|ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H	p.R288H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			8	1157	-			288					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.863G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992886	0.35131	2.28E-4	0.0	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.36;3.11;0.89	5.94	1.73	0.24493	.	1.311960	0.04445	N	0.371542	T	0.35624	0.0938	L	0.40543	1.245	0.09310	N	1	B;B	0.21753	0.06;0.003	B;B	0.12837	0.008;0.0	T	0.25537	-1.0129	10	0.45353	T	0.12	-2.6572	7.2688	0.26244	0.0:0.6024:0.2561:0.1414	.	82;288	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	H	288;159;82	ENSP00000304586:R288H;ENSP00000406796:R159H;ENSP00000388270:R82H	ENSP00000304586:R288H	R	-	2	0	ANKS3	4695102	0.004000	0.15560	0.000000	0.03702	0.096000	0.18686	0.356000	0.20181	0.103000	0.17682	0.563000	0.77884	CGC		0.597	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		68	801	0	0	0	1	0	68	801				
APOE	348	broad.mit.edu	37	19	45412290	45412290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412290G>A	ENST00000252486.4	+	4	848	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	246	8 X 22 AA approximate tandem repeats.		R -> C (in form E2 Dunedin).		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCGCGACCGCCTGGACGAG	0.751																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(736-738)cGc>cAc		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						6.0	7.0	7.0					19																	45412290		2066	4111	6177	SO:0001583	missense	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45412290G>A	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.737G>A	19.37:g.45412290G>A	ENSP00000252486:p.Arg246His						p.R246H	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	848	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	246		R -> C (in isoform E2 Dunedin).	8 X 22 AA approximate tandem repeats.		B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	c.737G>A	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921081	0.33908	.	.	ENSG00000130203	ENST00000252486	T	0.74002	-0.8	4.73	-3.36	0.04913	Apolipoprotein/apolipophorin (1);	0.559596	0.15717	N	0.248099	T	0.50956	0.1646	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.28808	-1.0032	10	0.36615	T	0.2	-16.8511	1.0706	0.01620	0.3691:0.237:0.2591:0.1349	.	246	P02649	APOE_HUMAN	H	246	ENSP00000252486:R246H	ENSP00000252486:R246H	R	+	2	0	APOE	50104130	0.334000	0.24739	0.709000	0.30452	0.804000	0.45430	0.487000	0.22356	-0.086000	0.12550	0.555000	0.69702	CGC		0.751	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		5	44	0	0	0	1	0	5	44				
CTNNB1	1499	broad.mit.edu	37	3	41275077	41275077	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275077A>C	ENST00000349496.5	+	9	1523	c.1243A>C	c.(1243-1245)Aat>Cat	p.N415H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	415					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AGATGATATAAATGTGGTCAC	0.428		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1243-1245)Aat>Cat		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						161.0	156.0	157.0					3																	41275077		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275077A>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1243A>C	3.37:g.41275077A>C	ENSP00000344456:p.Asn415His					CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H	p.N415H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1523	+			415					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1243A>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.005703	0.54254	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	M	0.79011	2.435	0.80722	D	1	B;B;B	0.14012	0.004;0.009;0.009	B;B;B	0.12837	0.008;0.008;0.008	T	0.62459	-0.6850	10	0.41790	T	0.15	-0.0228	16.255	0.82510	1.0:0.0:0.0:0.0	.	343;408;415	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	H	415;415;415;408;415	ENSP00000385604:N415H;ENSP00000379486:N415H;ENSP00000344456:N415H;ENSP00000411226:N408H;ENSP00000379488:N415H	ENSP00000344456:N415H	N	+	1	0	CTNNB1	41250081	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	AAT		0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		158	835	0	0	0	1	0	158	835				
CCDC7	79741	broad.mit.edu	37	10	33113457	33113457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33113457C>T	ENST00000375028.3	+	11	1004	c.934C>T	c.(934-936)Cga>Tga	p.R312*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN		336										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACTGATGAACGATTGCATAG	0.284																																						ENST00000375028.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(934-936)Cga>Tga		chromosome 10 open reading frame 68							89.0	94.0	92.0					10																	33113457		2203	4295	6498	SO:0001587	stop_gained	79741							g.chr10:33113457C>T																												ENST00000375028.3:c.934C>T	10.37:g.33113457C>T	ENSP00000364168:p.Arg312*					C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*|C10orf68_ENST00000375030.2_Intron	p.R312*			Q9H943	CJ068_HUMAN			11	1004	+			336					B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	ENST00000375028.3	37	c.934C>T		.	.	.	.	.	.	.	.	.	.	.	16.79	3.219350	0.58560	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	2.06	0.0262	0.14149	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3043	0.06994	0.0:0.5489:0.2756:0.1754	.	.	.	.	X	336;312;372;284	.	ENSP00000303710:R336X	R	+	1	2	C10orf68	33153463	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.988000	0.01482	0.021000	0.15133	0.305000	0.20034	CGA		0.284	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2			52	240	0	0	0	1	0	52	240				
STC1	6781	broad.mit.edu	37	8	23709021	23709021	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23709021G>T	ENST00000290271.2	-	3	568	c.285C>A	c.(283-285)agC>agA	p.S95R	STC1_ENST00000524323.1_Missense_Mutation_p.S26R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	95					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCATTTTAAGCTCTCTTTGA	0.502																																						ENST00000290271.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(283-285)agC>agA		stanniocalcin 1							114.0	100.0	105.0					8																	23709021		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23709021G>T		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.285C>A	8.37:g.23709021G>T	ENSP00000290271:p.Ser95Arg					STC1_ENST00000524323.1_Missense_Mutation_p.S26R	p.S95R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	568	-		Prostate(55;0.055)|Breast(100;0.116)	95					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.285C>A	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141956	0.77775	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.75	3.95	0.45737	.	0.034660	0.85682	D	0.000000	T	0.66046	0.2750	L	0.51914	1.62	0.58432	D	0.999996	D	0.67145	0.996	P	0.62491	0.903	T	0.68857	-0.5298	9	0.72032	D	0.01	-3.9207	11.4007	0.49868	0.1487:0.0:0.8513:0.0	.	95	P52823	STC1_HUMAN	R	95;26;26	.	ENSP00000290271:S95R	S	-	3	2	STC1	23764966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	1.446000	0.47643	0.655000	0.94253	AGC		0.502	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			45	200	1	0	5.44703e-19	1	6.0629e-19	45	200				
SORCS2	57537	broad.mit.edu	37	4	7725587	7725587	+	Missense_Mutation	SNP	C	C	T	rs370833021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7725587C>T	ENST00000507866.2	+	19	2697	c.2588C>T	c.(2587-2589)gCg>gTg	p.A863V	SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	863	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A713V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CACGATGAGGCGGTGCTCTTT	0.587																																						ENST00000507866.2																			1	Substitution - Missense(1)	p.A713V(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2587-2589)gCg>gTg		sortilin-related VPS10 domain containing receptor 2		C	VAL/ALA	0,4052		0,0,2026	46.0	48.0	47.0		2588	2.0	0.0	4		47	1,8347		0,1,4173	no	missense	SORCS2	NM_020777.2	64	0,1,6199	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	863/1160	7725587	1,12399	2026	4174	6200	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725587C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2588C>T	4.37:g.7725587C>T	ENSP00000422185:p.Ala863Val					SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	p.A863V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			19	2697	+			863			PKD.		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2588C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767768	0.31320	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.68903	-0.36;-0.36	2.82	1.97	0.26223	PKD/Chitinase domain (1);PKD domain (3);	0.261105	0.28883	U	0.013831	T	0.62134	0.2403	M	0.65498	2.005	0.44899	D	0.997912	P;D	0.63880	0.895;0.993	B;B	0.43018	0.198;0.405	T	0.62973	-0.6740	10	0.56958	D	0.05	.	9.4847	0.38922	0.0:0.8919:0.0:0.1081	.	691;863	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	863;691	ENSP00000422185:A863V;ENSP00000329124:A691V	ENSP00000329124:A691V	A	+	2	0	SORCS2	7776487	1.000000	0.71417	0.028000	0.17463	0.002000	0.02628	6.946000	0.75953	0.399000	0.25367	-0.373000	0.07131	GCG		0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		6	275	0	0	0	1	0	6	275				
ACER1	125981	broad.mit.edu	37	19	6309846	6309846	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6309846C>A	ENST00000301452.4	-	4	428		c.e4-1			NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1						cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAACTGGGACCTGGGGAGGAA	0.612																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.e4-1		alkaline ceramidase 1							84.0	64.0	71.0					19																	6309846		2203	4300	6503	SO:0001630	splice_region_variant	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6309846C>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.351-1G>T	19.37:g.6309846C>A								NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			4	428	-									Splice_Site	SNP	ENST00000301452.4	37		CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641999	0.47153	.	.	ENSG00000167769	ENST00000301452	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2007	0.65703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACER1	6260846	1.000000	0.71417	0.152000	0.22495	0.017000	0.09413	6.473000	0.73572	1.947000	0.56498	0.542000	0.68232	.		0.612	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492	Intron	46	192	1	0	2.64894e-19	1	2.95328e-19	46	192				
PKN1	5585	broad.mit.edu	37	19	14554324	14554324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14554324C>T	ENST00000242783.6	+	3	530	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Missense_Mutation_p.A128V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	122					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGCTCGGCCACCAACCTG	0.662																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(364-366)gCc>gTc		protein kinase N1							47.0	58.0	54.0					19																	14554324		2174	4292	6466	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14554324C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.365C>T	19.37:g.14554324C>T	ENSP00000242783:p.Ala122Val					PKN1_ENST00000342216.4_Missense_Mutation_p.A128V|PKN1_ENST00000587429.1_3'UTR	p.A122V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			3	530	+			122					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.365C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563159	0.45694	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65549	-0.16;-0.16	4.01	4.01	0.46588	.	0.197201	0.34411	U	0.003983	T	0.42291	0.1196	N	0.22421	0.69	0.31609	N	0.651697	B;B	0.25609	0.13;0.079	B;B	0.16289	0.015;0.007	T	0.44726	-0.9309	10	0.22706	T	0.39	-0.0488	9.1301	0.36839	0.2185:0.7815:0.0:0.0	.	128;122	Q16512-2;Q16512	.;PKN1_HUMAN	V	122;128	ENSP00000242783:A122V;ENSP00000343325:A128V	ENSP00000242783:A122V	A	+	2	0	PKN1	14415324	0.765000	0.28485	1.000000	0.80357	0.933000	0.57130	1.622000	0.36997	1.794000	0.52575	0.491000	0.48974	GCC		0.662	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		16	71	0	0	0	1	0	16	71				
IFNA10	3446	broad.mit.edu	37	9	21206625	21206625	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21206625T>C	ENST00000357374.2	-	1	517	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	158					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GGGCTGTATTTCCTCTCTATT	0.443																																						ENST00000357374.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(472-474)Aaa>Gaa		interferon, alpha 10							275.0	279.0	277.0					9																	21206625		2203	4300	6503	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206625T>C		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.472A>G	9.37:g.21206625T>C	ENSP00000369566:p.Lys158Glu						p.K158E	NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	517	-			158					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.472A>G	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	11.46	1.644157	0.29246	.	.	ENSG00000186803	ENST00000357374	T	0.05447	3.44	3.75	-0.534	0.11883	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.731033	0.13799	N	0.361970	T	0.06280	0.0162	L	0.45581	1.43	0.09310	N	0.999998	B	0.14805	0.011	B	0.26770	0.073	T	0.37911	-0.9685	10	0.32370	T	0.25	.	6.4822	0.22069	0.0:0.5697:0.0:0.4303	.	158	P01566	IFN10_HUMAN	E	158	ENSP00000369566:K158E	ENSP00000369566:K158E	K	-	1	0	IFNA10	21196625	0.000000	0.05858	0.015000	0.15790	0.414000	0.31173	-0.713000	0.05007	0.044000	0.15775	0.409000	0.27619	AAA		0.443	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		80	1839	0	0	0	1	0	80	1839				
LENG1	79165	broad.mit.edu	37	19	54660522	54660522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54660522G>T	ENST00000222224.3	-	3	740	c.554C>A	c.(553-555)tCt>tAt	p.S185Y		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	185										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGCTTCTCAGACCCCTCCTT	0.617																																						ENST00000222224.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8						c.(553-555)tCt>tAt		leukocyte receptor cluster (LRC) member 1							105.0	94.0	97.0					19																	54660522		2203	4300	6503	SO:0001583	missense	79165							g.chr19:54660522G>T	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.554C>A	19.37:g.54660522G>T	ENSP00000222224:p.Ser185Tyr						p.S185Y	NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN			3	740	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		185					Q9HCU7	Missense_Mutation	SNP	ENST00000222224.3	37	c.554C>A	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421078	0.42918	.	.	ENSG00000105617	ENST00000222224	T	0.47869	0.83	5.07	-1.7	0.08159	.	3.044690	0.00990	N	0.003510	T	0.32194	0.0821	N	0.17838	0.53	0.09310	N	1	B	0.19583	0.037	B	0.23275	0.045	T	0.26430	-1.0103	10	0.59425	D	0.04	20.2453	3.3208	0.07049	0.0824:0.2918:0.3611:0.2647	.	185	Q96BZ8	LENG1_HUMAN	Y	185	ENSP00000222224:S185Y	ENSP00000222224:S185Y	S	-	2	0	LENG1	59352334	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	0.409000	0.21082	-0.181000	0.10619	0.609000	0.83330	TCT		0.617	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		15	590	1	0	8.60227e-14	1	9.30909e-14	15	590				
NYNRIN	57523	broad.mit.edu	37	14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(214-216)Ctg>Atg		NYN domain and retroviral integrase containing							68.0	72.0	71.0					14																	24877090		2031	4192	6223	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877090C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.214C>A	14.37:g.24877090C>A	ENSP00000371994:p.Leu72Met						p.L72M	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	532	+			72					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.214C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042273	0.55003	.	.	ENSG00000205978	ENST00000382554	T	0.22539	1.95	4.46	4.46	0.54185	.	0.185553	0.23343	U	0.049219	T	0.45357	0.1338	M	0.72894	2.215	0.26018	N	0.981903	D	0.76494	0.999	D	0.75484	0.986	T	0.31668	-0.9935	10	0.87932	D	0	.	14.6529	0.68811	0.0:1.0:0.0:0.0	.	72	Q9P2P1	NYNRI_HUMAN	M	72	ENSP00000371994:L72M	ENSP00000371994:L72M	L	+	1	2	NYNRIN	23946930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.082000	0.57635	2.306000	0.77630	0.563000	0.77884	CTG		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			97	384	1	0	2.13719e-29	1	2.49704e-29	97	384				
ANO2	57101	broad.mit.edu	37	12	5941725	5941725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5941725G>A	ENST00000356134.5	-	6	740	c.669C>T	c.(667-669)agC>agT	p.S223S	ANO2_ENST00000327087.8_Silent_p.S222S|ANO2_ENST00000546188.1_Silent_p.S223S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	227					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCAGAGCCGCGCTGAACTTCT	0.522																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(664-666)agC>agT		anoctamin 2							92.0	92.0	92.0					12																	5941725		2085	4227	6312	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5941725G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.669C>T	12.37:g.5941725G>A						ANO2_ENST00000356134.5_Silent_p.S223S|ANO2_ENST00000546188.1_Silent_p.S223S	p.S222S			Q9NQ90	ANO2_HUMAN			5	737	-			227					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.666C>T																																																																																					0.522	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		48	167	0	0	0	1	0	48	167				
CHRNE	1145	broad.mit.edu	37	17	4798398	4798398	+	IGR	SNP	C	C	T	rs370114801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4798398C>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000347992.7_Silent_p.L953L|MINK1_ENST00000453408.3_Silent_p.L962L|MINK1_ENST00000355280.6_Silent_p.L982L	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCACTCGGCTCGACCAGCTGC	0.602																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2944-2946)ctC>ctT		misshapen-like kinase 1							404.0	373.0	383.0					17																	4798398		2034	4178	6212	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798398C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798398C>T						MINK1_ENST00000453408.3_Silent_p.L962L|MINK1_ENST00000347992.7_Silent_p.L953L	p.L982L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			25	3142	+			982			Mediates interaction with RAP2A.		D3DTK6	Silent	SNP	ENST00000293780.4	37	c.2946C>T	CCDS11058.1																																																																																				0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			36	176	0	0	0	1	0	36	176				
SV2C	22987	broad.mit.edu	37	5	75428107	75428107	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428107A>G	ENST00000502798.2	+	2	974	c.532A>G	c.(532-534)Agt>Ggt	p.S178G	SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	178					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGTGTTACCCAGTGCTGAGAC	0.512																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(532-534)Agt>Ggt		synaptic vesicle glycoprotein 2C							160.0	151.0	154.0					5																	75428107		2068	4205	6273	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428107A>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.532A>G	5.37:g.75428107A>G	ENSP00000423541:p.Ser178Gly					SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	p.S178G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	974	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	178					Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.532A>G	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979483	0.74360	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.47528	0.84;0.84	5.65	4.47	0.54385	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71441	-0.4592	10	0.87932	D	0	-11.3857	12.8594	0.57906	0.8636:0.1364:0.0:0.0	.	178	Q496J9	SV2C_HUMAN	G	178	ENSP00000423541:S178G;ENSP00000316983:S178G	ENSP00000316983:S178G	S	+	1	0	SV2C	75463863	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.339000	0.96797	0.962000	0.38057	-0.313000	0.08912	AGT		0.512	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			75	356	0	0	0	1	0	75	356				
CCL1	6346	broad.mit.edu	37	17	32690113	32690113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32690113C>A	ENST00000225842.3	-	1	137	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	23					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGCTCTTGCTGTCCACATC	0.572																																						ENST00000225842.3																			0											c.(67-69)aGc>aTc		chemokine (C-C motif) ligand 1							148.0	105.0	120.0					17																	32690113		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32690113C>A	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.68G>T	17.37:g.32690113C>A	ENSP00000225842:p.Ser23Ile						p.S23I	NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	1	137	-		Ovarian(249;0.0443)|Breast(31;0.133)	23					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.68G>T	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776681	0.31411	.	.	ENSG00000108702	ENST00000225842	T	0.03413	3.94	4.42	2.41	0.29592	Chemokine interleukin-8-like domain (1);	0.529029	0.20041	N	0.100511	T	0.05640	0.0148	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.49226	0.603	T	0.29336	-1.0015	9	0.48119	T	0.1	-6.2234	6.3335	0.21282	0.0:0.6976:0.202:0.1004	.	23	P22362	CCL1_HUMAN	I	23	ENSP00000225842:S23I	ENSP00000225842:S23I	S	-	2	0	CCL1	29714226	0.008000	0.16893	0.000000	0.03702	0.022000	0.10575	0.558000	0.23469	0.802000	0.34089	0.644000	0.83932	AGC		0.572	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		48	194	1	0	4.10826e-27	1	4.75084e-27	48	194				
CGA	1081	broad.mit.edu	37	6	87796039	87796039	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87796039T>C	ENST00000369582.2	-	3	302	c.202A>G	c.(202-204)Aag>Gag	p.K68E	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	68					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATCGTCTTCTTGGACCTTAGT	0.493																																						ENST00000369582.2																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15						c.(202-204)Aag>Gag		glycoprotein hormones, alpha polypeptide							185.0	182.0	183.0					6																	87796039		2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796039T>C	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.202A>G	6.37:g.87796039T>C	ENSP00000358595:p.Lys68Glu						p.K68E	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	302	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	68						Missense_Mutation	SNP	ENST00000369582.2	37	c.202A>G	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187126	0.57909	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.45	0.53987	.	0.129166	0.64402	D	0.000001	T	0.56381	0.1981	M	0.62723	1.935	0.50039	D	0.999847	D	0.55385	0.971	P	0.54544	0.755	T	0.62101	-0.6925	9	0.62326	D	0.03	-16.9707	12.9504	0.58397	0.0:0.0:0.1354:0.8646	.	68	P01215	GLHA_HUMAN	E	68	.	ENSP00000358595:K68E	K	-	1	0	CGA	87852758	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	5.704000	0.68347	0.948000	0.37687	-0.399000	0.06403	AAG		0.493	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		123	662	0	0	0	1	0	123	662				
CLCN2	1181	broad.mit.edu	37	3	184079203	184079203	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184079203A>G	ENST00000265593.4	-	1	235		c.e1+1		POLR2H_ENST00000438240.1_5'Flank|POLR2H_ENST00000456318.1_5'Flank|CLCN2_ENST00000423355.2_Splice_Site|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000452961.1_5'Flank|CLCN2_ENST00000457512.1_Splice_Site|CLCN2_ENST00000434054.2_Splice_Site|POLR2H_ENST00000296223.3_5'Flank|CLCN2_ENST00000344937.7_Splice_Site|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000430783.1_5'Flank|POLR2H_ENST00000429568.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2						cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCTTCACTTACCAGGGTCTG	0.687																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.e1+1		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						60.0	62.0	61.0					3																	184079203		2203	4300	6503	SO:0001630	splice_region_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184079203A>G	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.63+1T>C	3.37:g.184079203A>G						CLCN2_ENST00000344937.7_Splice_Site|CLCN2_ENST00000434054.2_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_Splice_Site|CLCN2_ENST00000457512.1_Splice_Site		NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	235	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)							B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Splice_Site	SNP	ENST00000265593.4	37		CCDS3263.1	.	.	.	.	.	.	.	.	.	.	a	9.801	1.180565	0.21787	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2202	0.37373	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLCN2	185561897	0.998000	0.40836	0.998000	0.56505	0.088000	0.18126	1.702000	0.37836	1.742000	0.51746	0.370000	0.22315	.		0.687	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		Intron	64	360	0	0	0	1	0	64	360				
PRICKLE4	29964	broad.mit.edu	37	6	41753969	41753969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41753969C>T	ENST00000394260.1	+	4	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A229V|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.A229V|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	189	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACGTTATGCCCTGCCTGGG	0.672																																						ENST00000359201.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(685-687)gCc>gTc		prickle homolog 4 (Drosophila)							32.0	34.0	33.0					6																	41753969		2202	4300	6502	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41753969C>T	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.566C>T	6.37:g.41753969C>T	ENSP00000377803:p.Ala189Val					PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V	p.A229V			Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	1275	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		189					A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.686C>T		.	.	.	.	.	.	.	.	.	.	C	12.06	1.825632	0.32237	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.81	4.81	0.61882	.	0.138533	0.33477	N	0.004876	T	0.35624	0.0938	N	0.00109	-2.105	0.37209	D	0.904731	B	0.19200	0.034	B	0.26416	0.069	T	0.50742	-0.8792	10	0.11485	T	0.65	-19.1463	7.1315	0.25504	0.0:0.8176:0.0:0.1824	.	229	Q2TBC4-3	.	V	229;229;229;189;189	ENSP00000404911:A229V;ENSP00000352128:A229V;ENSP00000377806:A229V;ENSP00000377802:A189V;ENSP00000377803:A189V	ENSP00000335185:A229V	A	+	2	0	PRICKLE4	41861947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.152000	0.64882	2.504000	0.84457	0.561000	0.74099	GCC		0.672	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		56	273	0	0	0	1	0	56	273				
TUBGCP3	10426	broad.mit.edu	37	13	113174253	113174253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113174253C>T	ENST00000261965.3	-	15	2014	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TUBGCP3_ENST00000462580.1_5'Flank|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	610					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A610T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TCAAACTGTGCGTTGGTGGCT	0.537																																						ENST00000261965.3																			1	Substitution - Missense(1)	p.A610T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1828-1830)Gca>Aca		tubulin, gamma complex associated protein 3							120.0	120.0	120.0					13																	113174253		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113174253C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1828G>A	13.37:g.113174253C>T	ENSP00000261965:p.Ala610Thr					TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	p.A610T	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			15	2014	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		610					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1828G>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079384	0.94050	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08807	3.05;3.05	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.81614	2.55	0.80722	D	1	D;P;D	0.76494	0.999;0.879;0.998	D;P;D	0.70227	0.968;0.653;0.957	T	0.06092	-1.0846	10	0.49607	T	0.09	-23.55	18.4225	0.90595	0.0:1.0:0.0:0.0	.	600;610;610	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	T	610	ENSP00000261965:A610T;ENSP00000364821:A610T	ENSP00000261965:A610T	A	-	1	0	TUBGCP3	112222254	1.000000	0.71417	0.803000	0.32268	0.919000	0.55068	7.106000	0.77039	2.336000	0.79503	0.558000	0.71614	GCA		0.537	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		86	428	0	0	0	1	0	86	428				
KIF1A	547	broad.mit.edu	37	2	241697877	241697877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241697877C>T	ENST00000320389.7	-	25	2613	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A828T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	819					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCTCTGCAGCGCGGTCGTAC	0.662																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2482-2484)Gct>Act		kinesin family member 1A							51.0	59.0	56.0					2																	241697877		2170	4267	6437	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241697877C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2455G>A	2.37:g.241697877C>T	ENSP00000322791:p.Ala819Thr					KIF1A_ENST00000320389.7_Missense_Mutation_p.A819T	p.A828T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	26	2728	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	819					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.2482G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813877	0.96975	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76968	-1.06;-1.06;-1.06	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	D	0.85128	0.5626	L	0.60455	1.87	0.80722	D	1	P;D;D	0.89917	0.879;1.0;1.0	P;D;D	0.79784	0.559;0.97;0.993	T	0.80826	-0.1209	10	0.15952	T	0.53	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	828;828;819	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	819;828;828;828	ENSP00000322791:A819T;ENSP00000438388:A828T;ENSP00000384231:A828T	ENSP00000322791:A819T	A	-	1	0	KIF1A	241346550	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	7.571000	0.82399	2.473000	0.83533	0.591000	0.81541	GCT		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		11	94	0	0	0	1	0	11	94				
KRTAP15-1	254950	broad.mit.edu	37	21	31812852	31812852	+	Missense_Mutation	SNP	A	A	C	rs375869233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812852A>C	ENST00000334067.3	+	1	256	c.207A>C	c.(205-207)agA>agC	p.R69S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	69						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTTGGCCAGATCCTATCAGA	0.512																																						ENST00000334067.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(205-207)agA>agC		keratin associated protein 15-1							124.0	117.0	119.0					21																	31812852		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812852A>C	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.207A>C	21.37:g.31812852A>C	ENSP00000334866:p.Arg69Ser						p.R69S	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	256	+			69					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.207A>C	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	A	2.037	-0.420979	0.04734	.	.	ENSG00000186970	ENST00000334067	T	0.02787	4.16	4.48	0.728	0.18260	.	0.648451	0.14151	N	0.337992	T	0.01421	0.0046	N	0.10916	0.065	0.09310	N	1	B	0.24920	0.114	B	0.31686	0.134	T	0.47573	-0.9107	10	0.02654	T	1	-0.1593	4.0417	0.09755	0.6046:0.2002:0.1952:0.0	.	69	Q3LI76	KR151_HUMAN	S	69	ENSP00000334866:R69S	ENSP00000334866:R69S	R	+	3	2	KRTAP15-1	30734723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.117000	0.18138	-0.331000	0.08364	AGA		0.512	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			59	523	0	0	0	1	0	59	523				
SEC16A	9919	broad.mit.edu	37	9	139371882	139371882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371882G>A	ENST00000313050.7	-	1	259	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTGTACTTTGGAGCGCCTGTC	0.562																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(184-186)ctC>ctT		SEC16 homolog A (S. cerevisiae)							64.0	67.0	66.0					9																	139371882		1970	4141	6111	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371882G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.186C>T	9.37:g.139371882G>A							p.L62L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	259	-		Myeloproliferative disorder(178;0.0511)	2026					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000313050.7	37	c.186C>T	CCDS55351.1																																																																																				0.562	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		12	322	0	0	0	1	0	12	322				
BMI1	648	broad.mit.edu	37	10	22618434	22618434	+	Nonsense_Mutation	SNP	C	C	A	rs140326477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22618434C>A	ENST00000376663.3	+	10	1449	c.944C>A	c.(943-945)tCa>tAa	p.S315*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*|RP11-573G6.9_ENST00000606988.1_lincRNA	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	315	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.S315L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CCTCGAAAATCATCAGTAAAT	0.403																																						ENST00000376663.3																			1	Substitution - Missense(1)	p.S315L(1)	skin(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						c.(943-945)tCa>tAa		BMI1 polycomb ring finger oncogene							122.0	118.0	119.0					10																	22618434		2203	4300	6503	SO:0001587	stop_gained	648							g.chr10:22618434C>A	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.944C>A	10.37:g.22618434C>A	ENSP00000365851:p.Ser315*					COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*	p.S315*	NM_005180.8	NP_005171.4					10	1449	+								Q16030|Q5T8Z3|Q96F37	Nonsense_Mutation	SNP	ENST00000376663.3	37	c.944C>A	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.341758	0.97489	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	.	.	.	5.58	5.58	0.84498	.	0.421653	0.25817	N	0.028101	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.5961	12.541	0.56169	0.0:0.9231:0.0:0.0769	.	.	.	.	X	227;315	.	ENSP00000365851:S315X	S	+	2	0	BMI1	22658440	0.997000	0.39634	0.999000	0.59377	0.991000	0.79684	4.119000	0.57891	2.638000	0.89438	0.650000	0.86243	TCA		0.403	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		65	304	1	0	1.12612e-26	1	1.29957e-26	65	304				
ZNF131	7690	broad.mit.edu	37	5	43161449	43161449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161449C>T	ENST00000399534.1	+	5	514	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000509634.1_Missense_Mutation_p.S157L|ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L			P52739	ZN131_HUMAN	zinc finger protein 131	157					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCACTGAGTCATTGCCATCT	0.408																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(469-471)tCa>tTa		zinc finger protein 131							114.0	103.0	106.0					5																	43161449		1879	4122	6001	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43161449C>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.470C>T	5.37:g.43161449C>T	ENSP00000382450:p.Ser157Leu					ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.S157L	p.S157L			P52739	ZN131_HUMAN			4	926	+			157					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.470C>T		.	.	.	.	.	.	.	.	.	.	C	17.64	3.439856	0.63067	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.18	5.18	0.71444	.	0.131313	0.52532	D	0.000067	T	0.63343	0.2503	N	0.19112	0.55	0.53005	D	0.999969	B;P	0.36909	0.278;0.573	B;B	0.36666	0.057;0.23	T	0.62964	-0.6742	10	0.30078	T	0.28	-6.1519	18.6914	0.91585	0.0:1.0:0.0:0.0	.	157;157	P52739;P52739-2	ZN131_HUMAN;.	L	157	ENSP00000422079:S157L;ENSP00000426504:S157L;ENSP00000305804:S157L;ENSP00000382450:S157L;ENSP00000423945:S157L;ENSP00000421246:S157L	ENSP00000305804:S157L	S	+	2	0	ZNF131	43197206	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.592000	0.67543	2.429000	0.82318	0.650000	0.86243	TCA		0.408	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		92	370	0	0	0	1	0	92	370				
ZNF516	9658	broad.mit.edu	37	18	74154335	74154335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154335C>T	ENST00000443185.2	-	3	993	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCCTGCGCGGTGATGTGG	0.697																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(676-678)Gcg>Acg		zinc finger protein 516							18.0	20.0	19.0					18																	74154335		2129	4244	6373	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154335C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.676G>A	18.37:g.74154335C>T	ENSP00000394757:p.Ala226Thr					ZNF516_ENST00000524431.2_5'UTR	p.A226T	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	993	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	226						Missense_Mutation	SNP	ENST00000443185.2	37	c.676G>A		.	.	.	.	.	.	.	.	.	.	C	15.53	2.860693	0.51482	.	.	ENSG00000101493	ENST00000443185	T	0.11169	2.8	4.4	4.4	0.53042	.	0.073018	0.53938	D	0.000045	T	0.07279	0.0184	.	.	.	0.28717	N	0.903243	B	0.31968	0.349	B	0.21546	0.035	T	0.16335	-1.0406	9	0.33141	T	0.24	-2.0811	12.0526	0.53515	0.0:0.9159:0.0:0.0841	.	226	Q92618	ZN516_HUMAN	T	226	ENSP00000394757:A226T	ENSP00000394757:A226T	A	-	1	0	ZNF516	72283323	0.998000	0.40836	0.673000	0.29887	0.881000	0.50899	3.696000	0.54757	2.443000	0.82685	0.563000	0.77884	GCG		0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		50	154	0	0	0	1	0	50	154				
GPCPD1	56261	broad.mit.edu	37	20	5539456	5539456	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5539456T>C	ENST00000379019.4	-	18	1754	c.1542A>G	c.(1540-1542)caA>caG	p.Q514Q	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	514	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTTCTGCTTTTGCCGAACCC	0.348																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(1540-1542)caA>caG		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							53.0	57.0	56.0					20																	5539456		2203	4300	6503	SO:0001819	synonymous_variant	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5539456T>C		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1542A>G	20.37:g.5539456T>C						GPCPD1_ENST00000481038.1_5'UTR	p.Q514Q	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			18	1754	-			514			GDPD.		D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	c.1542A>G	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	7.941	0.742788	0.15642	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.22	-1.59	0.08453	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-9.3187	1.6724	0.02814	0.1453:0.2905:0.2971:0.2671	.	.	.	.	E	106	.	.	K	-	1	0	GPCPD1	5487456	0.038000	0.19896	0.997000	0.53966	0.998000	0.95712	-0.952000	0.03881	-0.142000	0.11354	0.533000	0.62120	AAA		0.348	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		29	117	0	0	0	1	0	29	117				
IL6R	3570	broad.mit.edu	37	1	154401729	154401729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154401729C>T	ENST00000368485.3	+	2	580	c.143C>T	c.(142-144)cCg>cTg	p.P48L	IL6R_ENST00000344086.4_Missense_Mutation_p.P48L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	48	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTGACCTGCCCGGGGGTAGAG	0.637																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(142-144)cCg>cTg		interleukin 6 receptor							71.0	70.0	70.0					1																	154401729		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154401729C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.143C>T	1.37:g.154401729C>T	ENSP00000357470:p.Pro48Leu					IL6R_ENST00000344086.4_Missense_Mutation_p.P48L	p.P48L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	580	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		48			Ig-like C2-type.		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.143C>T	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	C	3.209	-0.162064	0.06502	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.17213	2.29;2.7;2.7	4.85	2.83	0.33086	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.223860	0.05530	N	0.563856	T	0.03477	0.0100	L	0.29908	0.895	0.42816	D	0.993973	P;P	0.47962	0.903;0.844	B;B	0.30646	0.118;0.055	T	0.51679	-0.8675	10	0.23891	T	0.37	-11.0365	6.0098	0.19569	0.0:0.7644:0.0:0.2356	.	48;48	P08887-2;P08887	.;IL6RA_HUMAN	L	48	ENSP00000357470:P48L;ENSP00000340589:P48L;ENSP00000423184:P48L	ENSP00000340589:P48L	P	+	2	0	IL6R	152668353	0.383000	0.25156	0.851000	0.33527	0.021000	0.10359	0.507000	0.22675	1.268000	0.44264	-0.258000	0.10820	CCG		0.637	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		11	487	0	0	0	1	0	11	487				
TM4SF20	79853	broad.mit.edu	37	2	228230946	228230946	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228230946T>G	ENST00000304568.3	-	3	301	c.264A>C	c.(262-264)tcA>tcC	p.S88S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CACTGAAAAGTGATGAAAGAA	0.378																																						ENST00000304568.3																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10						c.(262-264)tcA>tcC		transmembrane 4 L six family member 20							106.0	102.0	104.0					2																	228230946		2203	4300	6503	SO:0001819	synonymous_variant	79853					integral to membrane|plasma membrane		g.chr2:228230946T>G	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.264A>C	2.37:g.228230946T>G							p.S88S	NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	3	301	-		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	88					B2RP42|Q5U609|Q6UWS1|Q9H5X9	Silent	SNP	ENST00000304568.3	37	c.264A>C	CCDS2466.1																																																																																				0.378	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		73	192	0	0	0	1	0	73	192				
FLT4	2324	broad.mit.edu	37	5	180055887	180055887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180055887G>A	ENST00000261937.6	-	8	1176	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FLT4_ENST00000393347.3_Silent_p.F366F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F366F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	366	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTACCACTGGAACTCGGGCG	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1096-1098)ttC>ttT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						25.0	29.0	27.0					5																	180055887		2196	4296	6492	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180055887G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1098C>T	5.37:g.180055887G>A						FLT4_ENST00000393347.3_Silent_p.F366F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F366F	p.F366F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	8	1176	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	366			Ig-like C2-type 4.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1098C>T	CCDS4457.1																																																																																				0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			48	239	0	0	0	1	0	48	239				
ABCA12	26154	broad.mit.edu	37	2	215928871	215928871	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215928871C>A	ENST00000272895.7	-	3	454	c.235G>T	c.(235-237)Gac>Tac	p.D79Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	79					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTTAGAGTCTGTGTCACAG	0.433																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(235-237)Gac>Tac		ATP-binding cassette, sub-family A (ABC1), member 12							194.0	182.0	186.0					2																	215928871		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215928871C>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.235G>T	2.37:g.215928871C>A	ENSP00000272895:p.Asp79Tyr						p.D79Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	3	454	-		Renal(323;0.127)	79					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.235G>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816495	0.70912	.	.	ENSG00000144452	ENST00000272895	D	0.98512	-4.97	5.65	4.77	0.60923	.	0.596143	0.16633	N	0.205982	D	0.98277	0.9429	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98008	1.0364	10	0.66056	D	0.02	.	11.6926	0.51525	0.0:0.9166:0.0:0.0834	.	79	Q86UK0	ABCAC_HUMAN	Y	79	ENSP00000272895:D79Y	ENSP00000272895:D79Y	D	-	1	0	ABCA12	215637116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	1.372000	0.46190	0.655000	0.94253	GAC		0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		87	485	1	0	1.79992e-35	1	2.14945e-35	87	485				
CHSY3	337876	broad.mit.edu	37	5	129521060	129521060	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129521060A>G	ENST00000305031.4	+	3	2583	c.2225A>G	c.(2224-2226)tAc>tGc	p.Y742C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	742					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAACAGGTGTACTATCCCATC	0.398																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2224-2226)tAc>tGc		chondroitin sulfate synthase 3							117.0	110.0	113.0					5																	129521060		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129521060A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2225A>G	5.37:g.129521060A>G	ENSP00000302629:p.Tyr742Cys						p.Y742C	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2583	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	742					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.2225A>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932410	0.52866	.	.	ENSG00000198108	ENST00000305031	T	0.26957	1.7	4.33	4.33	0.51752	.	0.000000	0.48286	D	0.000198	T	0.56601	0.1996	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65565	-0.6137	9	.	.	.	-3.2014	14.5729	0.68224	1.0:0.0:0.0:0.0	.	742	Q70JA7	CHSS3_HUMAN	C	742	ENSP00000302629:Y742C	.	Y	+	2	0	CHSY3	129548959	1.000000	0.71417	0.977000	0.42913	0.913000	0.54294	9.087000	0.94110	2.171000	0.68590	0.528000	0.53228	TAC		0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		110	445	0	0	0	1	0	110	445				
C12orf42	374470	broad.mit.edu	37	12	103696338	103696338	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103696338C>T	ENST00000378113.2	-	6	857		c.e6-1		C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Splice_Site|C12orf42_ENST00000548883.1_Splice_Site	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42											NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GCGGCAGAACCTGGAAGGCAA	0.622																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.e9-1		chromosome 12 open reading frame 42							22.0	25.0	24.0					12																	103696338		1981	4151	6132	SO:0001630	splice_region_variant	374470							g.chr12:103696338C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.632-1G>A	12.37:g.103696338C>T						C12orf42_ENST00000378113.2_Splice_Site|C12orf42_ENST00000548883.1_Splice_Site|C12orf42_ENST00000315192.8_Intron				Q96LP6	CL042_HUMAN			9	927	-								Q49A64|Q4G0S2	Splice_Site	SNP	ENST00000378113.2	37		CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574459	0.45902	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	.	.	.	4.24	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7242	0.18004	0.1933:0.7017:0.0:0.105	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf42	102220468	0.971000	0.33674	0.849000	0.33467	0.259000	0.26198	1.384000	0.34396	1.075000	0.40932	0.561000	0.74099	.		0.622	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521	Intron	45	228	0	0	0	1	0	45	228				
GJB7	375519	broad.mit.edu	37	6	87994334	87994334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87994334C>A	ENST00000525899.1	-	3	642	c.297G>T	c.(295-297)gaG>gaT	p.E99D	GJB7_ENST00000296882.3_Missense_Mutation_p.E99D	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	99					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TCTCTCTACCCTCATGATAGG	0.448																																						ENST00000525899.1																			0				endometrium(2)|large_intestine(3)	5						c.(295-297)gaG>gaT		gap junction protein, beta 7, 25kDa							102.0	102.0	102.0					6																	87994334		2203	4300	6503	SO:0001583	missense	0				cell communication	connexon complex|integral to membrane		g.chr6:87994334C>A	AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"""Ion channels / Gap junction proteins (connexins)"""	16690	protein-coding gene	gene with protein product	"""connexin 25"""	611921	"""gap junction protein, beta 7"""				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.297G>T	6.37:g.87994334C>A	ENSP00000435355:p.Glu99Asp					GJB7_ENST00000296882.3_Missense_Mutation_p.E99D	p.E99D	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0167)	3	642	-		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)	99					B3KXL0|Q96KP0	Missense_Mutation	SNP	ENST00000525899.1	37	c.297G>T	CCDS5008.1	.	.	.	.	.	.	.	.	.	.	C	1.983	-0.433578	0.04669	.	.	ENSG00000164411	ENST00000525899;ENST00000296882;ENST00000369576	D;D;D	0.99121	-5.45;-5.45;-5.45	4.84	2.07	0.26955	Connexin, N-terminal (1);	0.151148	0.40469	U	0.001090	D	0.93851	0.8033	L	0.48642	1.525	0.09310	N	1	B	0.12013	0.005	B	0.24394	0.053	D	0.88918	0.3364	10	0.20519	T	0.43	.	7.5203	0.27624	0.0:0.561:0.0:0.439	.	99	Q6PEY0	CXB7_HUMAN	D	99	ENSP00000435355:E99D;ENSP00000296882:E99D;ENSP00000358589:E99D	ENSP00000296882:E99D	E	-	3	2	GJB7	88051053	0.819000	0.29175	0.007000	0.13788	0.004000	0.04260	0.528000	0.23002	0.113000	0.18004	-0.291000	0.09656	GAG		0.448	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1			11	388	1	0	0.010729	1	0.0107869	11	388				
DNM2	1785	broad.mit.edu	37	19	10934554	10934554	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10934554C>T	ENST00000355667.6	+	17	1952	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	DNM2_ENST00000585892.1_Silent_p.G624G|DNM2_ENST00000408974.4_Silent_p.G620G|DNM2_ENST00000389253.4_Silent_p.G624G|DNM2_ENST00000314646.5_Silent_p.G624G|DNM2_ENST00000359692.6_Silent_p.G620G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	624	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCGAGCTGGCGTCTACCCCG	0.662			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1870-1872)ggC>ggT		dynamin 2							53.0	45.0	48.0					19																	10934554		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10934554C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1872C>T	19.37:g.10934554C>T						DNM2_ENST00000585892.1_Silent_p.G624G|DNM2_ENST00000408974.4_Silent_p.G620G|DNM2_ENST00000355667.6_Silent_p.G624G|DNM2_ENST00000359692.6_Silent_p.G620G|DNM2_ENST00000389253.4_Silent_p.G624G	p.G624G			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		17	2036	+			624			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.1872C>T	CCDS45968.1																																																																																				0.662	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		57	221	0	0	0	1	0	57	221				
BICC1	80114	broad.mit.edu	37	10	60588555	60588555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60588555G>A	ENST00000373886.3	+	21	2833	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	943			S -> P (in dbSNP:rs4948550).		multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S943S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTTTGAATCGCCAAATGCAC	0.468																																						ENST00000373886.3																			1	Substitution - coding silent(1)	p.S943S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(2827-2829)tcG>tcA		bicaudal C homolog 1 (Drosophila)							91.0	83.0	86.0					10																	60588555		2203	4300	6503	SO:0001819	synonymous_variant	80114				multicellular organismal development		RNA binding	g.chr10:60588555G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2829G>A	10.37:g.60588555G>A							p.S943S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			21	2833	+			943		S -> P (in dbSNP:rs4948550).				Silent	SNP	ENST00000373886.3	37	c.2829G>A	CCDS31206.1																																																																																				0.468	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		16	309	0	0	0	1	0	16	309				
ABCB6	10058	broad.mit.edu	37	2	220077786	220077786	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220077786G>A	ENST00000265316.3	-	13	2123	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	ABCB6_ENST00000439002.2_Splice_Site_p.R557W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	603	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTCTCCCGCCTGCAAGGA	0.602																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.e13-1		ATP-binding cassette, sub-family B (MDR/TAP), member 6							52.0	49.0	50.0					2																	220077786		2203	4300	6503	SO:0001630	splice_region_variant	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220077786G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1806-1C>T	2.37:g.220077786G>A						ABCB6_ENST00000439002.2_Splice_Site_p.R557_splice	p.R603_splice	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2123	-		Renal(207;0.0474)	603			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Splice_Site	SNP	ENST00000265316.3	37	c.1805_splice	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165506	0.38217	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.90844	-2.74;-2.74	4.69	2.81	0.32909	ABC transporter-like (1);	0.261056	0.36893	N	0.002359	D	0.91287	0.7253	M	0.81614	2.55	0.80722	D	1	D;D	0.61697	0.989;0.99	P;B	0.47015	0.534;0.43	D	0.90771	0.4672	10	0.87932	D	0	-15.4509	12.1891	0.54257	0.0:0.0:0.3671:0.6329	.	557;603	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	W	603;557	ENSP00000265316:R603W;ENSP00000394333:R557W	ENSP00000265316:R603W	R	-	1	2	ABCB6	219786030	0.974000	0.33945	0.906000	0.35671	0.279000	0.26890	3.221000	0.51215	0.528000	0.28580	0.655000	0.94253	CGG		0.602	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	Missense_Mutation	14	105	0	0	0	1	0	14	105				
KCND2	3751	broad.mit.edu	37	7	119915676	119915676	+	Silent	SNP	G	G	A	rs367633670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915676G>A	ENST00000331113.4	+	1	1955	c.990G>A	c.(988-990)tcG>tcA	p.S330S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	330					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGCTTTTCTCGCTCACCATGG	0.502																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(988-990)tcG>tcA		potassium voltage-gated channel, Shal-related subfamily, member 2							158.0	119.0	132.0					7																	119915676		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915676G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.990G>A	7.37:g.119915676G>A							p.S330S	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1955	+	all_neural(327;0.117)		330					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.990G>A	CCDS5776.1																																																																																				0.502	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		98	421	0	0	0	1	0	98	421				
SP140L	93349	broad.mit.edu	37	2	231264881	231264881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264881G>A	ENST00000415673.2	+	15	1323	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	SP140L_ENST00000243810.6_Missense_Mutation_p.G413R|SP140L_ENST00000444636.1_Missense_Mutation_p.G413R|SP140L_ENST00000396563.4_Missense_Mutation_p.G378R	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	413						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G413W(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCGGGACGGAGGGGAGCTGTT	0.522																																						ENST00000243810.6																			2	Substitution - Missense(2)	p.G413W(2)	lung(2)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1237-1239)Ggg>Agg		SP140 nuclear body protein-like							190.0	196.0	194.0					2																	231264881		2082	4238	6320	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264881G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1237G>A	2.37:g.231264881G>A	ENSP00000397911:p.Gly413Arg					SP140L_ENST00000396563.4_Missense_Mutation_p.G378R|SP140L_ENST00000415673.2_Missense_Mutation_p.G413R|SP140L_ENST00000444636.1_Missense_Mutation_p.G413R	p.G413R			Q9H930	LY10L_HUMAN			15	1237	+			413					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1237G>A	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848324	0.51164	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	3.5	2.61	0.31194	.	.	.	.	.	D	0.94611	0.8263	M	0.93062	3.375	0.09310	N	1	D;D	0.89917	1.0;0.994	D;D	0.80764	0.994;0.962	D	0.85800	0.1373	9	0.87932	D	0	.	6.6587	0.23002	0.1347:0.0:0.8653:0.0	.	378;413	Q9H930-2;Q9H930-4	.;.	R	413;413;413;378	ENSP00000395195:G413R;ENSP00000397911:G413R;ENSP00000243810:G413R;ENSP00000379811:G378R	ENSP00000243810:G413R	G	+	1	0	SP140L	230973125	0.965000	0.33210	0.012000	0.15200	0.175000	0.22909	2.883000	0.48554	0.806000	0.34183	0.491000	0.48974	GGG		0.522	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		103	403	0	0	0	1	0	103	403				
FTCD	10841	broad.mit.edu	37	21	47556926	47556926	+	Missense_Mutation	SNP	T	T	A	rs144456078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47556926T>A	ENST00000291670.5	-	14	1644	c.1601A>T	c.(1600-1602)gAc>gTc	p.D534V	FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000355384.2_3'UTR|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000359679.2_Silent_p.G527G	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	534	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CTCCAAGCAGTCCAGCACCAG	0.642																																						ENST00000291670.5																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(1600-1602)gAc>gTc		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						65.0	62.0	63.0					21																	47556926		2202	4299	6501	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47556926T>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1601A>T	21.37:g.47556926T>A	ENSP00000291670:p.Asp534Val					FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000359679.2_Silent_p.G527G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_3'UTR	p.D534V	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN		Colorectal(79;0.235)	14	1644	-	Breast(49;0.214)		534			Cyclodeaminase/cyclohydrolase (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.1601A>T	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	T	3.124	-0.179945	0.06380	.	.	ENSG00000160282	ENST00000291670;ENST00000446405;ENST00000397746	T;T	0.45668	0.89;0.89	3.5	1.03	0.20045	Cyclodeaminase/cyclohydrolase (1);	.	.	.	.	T	0.35098	0.0920	M	0.65498	2.005	0.54753	D	0.999984	B	0.25955	0.138	B	0.24006	0.05	T	0.17837	-1.0356	9	0.48119	T	0.1	.	4.1292	0.10141	0.0:0.2331:0.1798:0.587	.	534	O95954	FTCD_HUMAN	V	534;68;534	ENSP00000291670:D534V;ENSP00000380854:D534V	ENSP00000291670:D534V	D	-	2	0	FTCD	46381354	0.011000	0.17503	0.469000	0.27204	0.064000	0.16182	0.238000	0.18004	0.365000	0.24400	0.374000	0.22700	GAC		0.642	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		40	141	0	0	0	1	0	40	141				
SLC17A7	57030	broad.mit.edu	37	19	49938140	49938140	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49938140C>A	ENST00000221485.3	-	4	606		c.e4-1		SLC17A7_ENST00000543531.1_Splice_Site|SLC17A7_ENST00000600601.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCCGAAAACTCTGATGGGAAG	0.562																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.e4-1		solute carrier family 17 (vesicular glutamate transporter), member 7							55.0	53.0	54.0					19																	49938140		2203	4300	6503	SO:0001630	splice_region_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49938140C>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.435-1G>T	19.37:g.49938140C>A						SLC17A7_ENST00000543531.1_Splice_Site|SLC17A7_ENST00000600601.1_Splice_Site		NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	4	606	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)						B4DFR9|B4DG46|Q6PCD0	Splice_Site	SNP	ENST00000221485.3	37		CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652502	0.67472	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0618	0.80841	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A7	54629952	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	7.191000	0.77763	2.741000	0.93983	0.585000	0.79938	.		0.562	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		Intron	17	92	1	0	0.00400662	1	0.00403789	17	92				
EED	8726	broad.mit.edu	37	11	85967452	85967452	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85967452T>C	ENST00000263360.6	+	5	1136	c.450T>C	c.(448-450)tgT>tgC	p.C150C	EED_ENST00000528180.1_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C|EED_ENST00000351625.6_Silent_p.C150C	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	150	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTTACACTTGTGCATGGACCT	0.323																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(448-450)tgT>tgC		embryonic ectoderm development							95.0	95.0	95.0					11																	85967452		2202	4299	6501	SO:0001819	synonymous_variant	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85967452T>C	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.450T>C	11.37:g.85967452T>C						EED_ENST00000528180.1_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C|EED_ENST00000351625.6_Silent_p.C150C	p.C150C	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			5	1136	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	150			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Silent	SNP	ENST00000263360.6	37	c.450T>C	CCDS8273.1																																																																																				0.323	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		70	244	0	0	0	1	0	70	244				
USHBP1	83878	broad.mit.edu	37	19	17373371	17373371	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373371A>G	ENST00000252597.3	-	4	805	c.632T>C	c.(631-633)cTg>cCg	p.L211P	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTTTCTGCAGCGTCTCCTT	0.592																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(631-633)cTg>cCg		Usher syndrome 1C binding protein 1							40.0	35.0	37.0					19																	17373371		2198	4296	6494	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373371A>G	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.632T>C	19.37:g.17373371A>G	ENSP00000252597:p.Leu211Pro					USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	p.L211P	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			4	805	-			211						Missense_Mutation	SNP	ENST00000252597.3	37	c.632T>C	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111685	0.56398	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.38722	1.18;1.12	3.83	3.83	0.44106	.	0.720289	0.11602	N	0.547680	T	0.52789	0.1756	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.996;0.982	T	0.50701	-0.8797	10	0.87932	D	0	-9.7072	10.8449	0.46737	1.0:0.0:0.0:0.0	.	147;211;211	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	P	211;147;211	ENSP00000252597:L211P;ENSP00000407902:L147P	ENSP00000252597:L211P	L	-	2	0	USHBP1	17234371	0.997000	0.39634	0.985000	0.45067	0.760000	0.43138	4.935000	0.63498	1.527000	0.49086	0.260000	0.18958	CTG		0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		51	240	0	0	0	1	0	51	240				
TEX13B	56156	broad.mit.edu	37	X	107225187	107225187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107225187G>A	ENST00000302917.1	-	2	263	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	57								p.S57S(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGGGCACCTCGCTGTCCTCCA	0.602																																						ENST00000302917.1																			1	Substitution - coding silent(1)	p.S57S(1)	lung(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(169-171)agC>agT		testis expressed 13B							99.0	91.0	94.0					X																	107225187		2199	4300	6499	SO:0001819	synonymous_variant	0							g.chrX:107225187G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.171C>T	X.37:g.107225187G>A							p.S57S	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			2	263	-			57					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.171C>T	CCDS14534.1																																																																																				0.602	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			26	712	0	0	0	1	0	26	712				
RASA1	5921	broad.mit.edu	37	5	86672311	86672311	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:86672311T>C	ENST00000274376.6	+	16	2677	c.2113T>C	c.(2113-2115)Tcc>Ccc	p.S705P	RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|RASA1_ENST00000456692.2_Missense_Mutation_p.S528P|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.S538P	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	705					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGAACCAGGGTCCCTGCGTGT	0.403																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1582-1584)Tcc>Ccc		RAS p21 protein activator (GTPase activating protein) 1							98.0	95.0	96.0					5																	86672311		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672311T>C		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2113T>C	5.37:g.86672311T>C	ENSP00000274376:p.Ser705Pro					CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000274376.6_Missense_Mutation_p.S705P|RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|RASA1_ENST00000512763.1_Missense_Mutation_p.S538P	p.S528P	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	16	1697	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	705			PH.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.1582T>C	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312935	0.81358	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.54	4.31	0.51392	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.048785	0.85682	D	0.000000	T	0.81004	0.4733	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.74348	0.959;0.983;0.959;0.982;0.959	T	0.81720	-0.0804	10	0.51188	T	0.08	.	11.465	0.50232	0.1347:0.0:0.0:0.8653	.	539;538;539;528;705	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	P	705;738;528;538;539	ENSP00000274376:S705P;ENSP00000411221:S528P;ENSP00000422008:S538P;ENSP00000420905:S539P	ENSP00000274376:S705P	S	+	1	0	RASA1	86708067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.197000	0.58413	2.102000	0.63906	0.460000	0.39030	TCC		0.403	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		66	247	0	0	0	1	0	66	247				
SECTM1	6398	broad.mit.edu	37	17	80282651	80282651	+	Silent	SNP	G	G	A	rs202089016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80282651G>A	ENST00000269389.3	-	3	560	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SECTM1_ENST00000580437.1_Silent_p.A70A	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	70					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCTGCCCGTGGGCACGCAGCT	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15705	0.0		0.0	False		,,,				2504	0.0					ENST00000269389.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(208-210)gcC>gcT		secreted and transmembrane 1							130.0	88.0	102.0					17																	80282651		2203	4300	6503	SO:0001819	synonymous_variant	6398				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	g.chr17:80282651G>A	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"""K12 protein"", ""type 1a transmembrane protein"""	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.210C>T	17.37:g.80282651G>A						SECTM1_ENST00000580437.1_Silent_p.A70A	p.A70A	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		3	560	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		70					B2R7H0|O00466	Silent	SNP	ENST00000269389.3	37	c.210C>T	CCDS11808.1																																																																																				0.607	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004		6	222	0	0	0	1	0	6	222				
TAF1L	138474	broad.mit.edu	37	9	32632632	32632632	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32632632G>T	ENST00000242310.4	-	1	3035	c.2946C>A	c.(2944-2946)ttC>ttA	p.F982L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	982					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCACATAGGAGAATCCTTCAC	0.507																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2944-2946)ttC>ttA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							200.0	183.0	189.0					9																	32632632		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632632G>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2946C>A	9.37:g.32632632G>T	ENSP00000418379:p.Phe982Leu						p.F982L	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3035	-			982					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2946C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164757	0.78339	.	.	ENSG00000122728	ENST00000242310	T	0.15139	2.45	1.04	-1.05	0.10036	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.113396	0.64402	D	0.000003	T	0.41488	0.1161	M	0.94021	3.485	0.53688	D	0.999975	D	0.69078	0.997	D	0.70716	0.97	T	0.24476	-1.0159	10	0.87932	D	0	.	4.2663	0.10764	0.725:0.0:0.275:0.0	.	982	Q8IZX4	TAF1L_HUMAN	L	982	ENSP00000418379:F982L	ENSP00000418379:F982L	F	-	3	2	TAF1L	32622632	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	2.705000	0.47127	-0.347000	0.08299	0.195000	0.17529	TTC		0.507	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			20	663	1	0	2.37509e-13	1	2.56396e-13	20	663				
ANKS6	203286	broad.mit.edu	37	9	101518814	101518814	+	Silent	SNP	C	C	T	rs199761692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101518814C>T	ENST00000353234.4	-	12	2261	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ANKS6_ENST00000375019.2_Silent_p.T437T|ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000540940.1_Silent_p.T543T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	738	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGGGGAGGGCGTGAGGGTTG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		16545	0.0		0.001	False		,,,				2504	0.0					ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2212-2214)acG>acA		ankyrin repeat and sterile alpha motif domain containing 6		C		0,4052		0,0,2026	100.0	108.0	105.0		2214	-10.7	0.5	9		105	4,8344		0,4,4170	no	coding-synonymous	ANKS6	NM_173551.3		0,4,6196	TT,TC,CC		0.0479,0.0,0.0323		738/872	101518814	4,12396	2026	4174	6200	SO:0001819	synonymous_variant	203286							g.chr9:101518814C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2214G>A	9.37:g.101518814C>T						ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000375019.2_Silent_p.T437T|ANKS6_ENST00000540940.1_Silent_p.T543T	p.T738T			Q68DC2	ANKS6_HUMAN			12	2261	-		Acute lymphoblastic leukemia(62;0.0527)	738			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.2214G>A	CCDS43856.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	8.376	0.836505	0.16891	0.0	4.79E-4	ENSG00000165138	ENST00000444472	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49790	-0.8902	4	.	.	.	-16.4068	5.6656	0.17693	0.1426:0.5694:0.1748:0.1131	.	.	.	.	T	208	.	.	A	-	1	0	ANKS6	100558635	0.000000	0.05858	0.506000	0.27664	0.876000	0.50452	-3.351000	0.00501	-2.143000	0.00803	-0.350000	0.07774	GCC		0.552	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		72	271	0	0	0	1	0	72	271				
ALDH3B1	221	broad.mit.edu	37	11	67789274	67789274	+	Missense_Mutation	SNP	C	C	T	rs200028780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67789274C>T	ENST00000539229.1	+	8	996	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	ALDH3B1_ENST00000342456.6_Missense_Mutation_p.R258W|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.R294W	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	295					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CCAGCGGCTGCGGGCATTGCT	0.647																																						ENST00000539229.1																			0											c.(880-882)Cgg>Tgg		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)	C	,TRP/ARG,	3,4397	6.2+/-15.9	0,3,2197	46.0	56.0	53.0		882,772,882	2.9	0.0	11		53	0,8588		0,0,4294	no	coding-synonymous,missense,coding-synonymous	ALDH3B1	NM_000694.2,NM_001030010.1,NM_001161473.1	,101,	0,3,6491	TT,TC,CC		0.0,0.0682,0.0231	,probably-damaging,	294/468,258/432,294/468	67789274	3,12985	2200	4294	6494	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67789274C>T	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.880C>T	11.37:g.67789274C>T	ENSP00000474034:p.Arg294Trp					ALDH3B1_ENST00000342456.6_Missense_Mutation_p.R258W|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.R294W|ALDH3B1_ENST00000434449.1_3'UTR	p.R294W	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			8	996	+			295					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.880C>T																																																																																					0.647	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		90	431	0	0	0	1	0	90	431				
CD48	962	broad.mit.edu	37	1	160654834	160654834	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160654834G>A	ENST00000368046.3	-	2	315	c.228C>T	c.(226-228)taC>taT	p.Y76Y	CD48_ENST00000368045.3_Silent_p.Y76Y|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	76	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGATTCAAAGTACTTAGATT	0.423																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(226-228)taC>taT		CD48 molecule							113.0	118.0	116.0					1																	160654834		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654834G>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.228C>T	1.37:g.160654834G>A						CD48_ENST00000368046.3_Silent_p.Y76Y	p.Y76Y			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	267	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		76			Ig-like C2-type 1.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.228C>T	CCDS1208.1																																																																																				0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		124	535	0	0	0	1	0	124	535				
FAM208B	54906	broad.mit.edu	37	10	5788293	5788293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788293G>A	ENST00000328090.5	+	15	3534	c.2909G>A	c.(2908-2910)gGc>gAc	p.G970D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	970																	TCTTACAGTGGCACTGTTACT	0.473																																						ENST00000328090.5																			0											c.(2908-2910)gGc>gAc		family with sequence similarity 208, member B							65.0	69.0	68.0					10																	5788293		1973	4157	6130	SO:0001583	missense	54906							g.chr10:5788293G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2909G>A	10.37:g.5788293G>A	ENSP00000328426:p.Gly970Asp						p.G970D	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	3534	+			970					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2909G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.380718	0.00205	.	.	ENSG00000108021	ENST00000328090	D	0.97161	-4.27	5.2	-1.54	0.08584	.	0.549868	0.16528	N	0.210512	D	0.83543	0.5277	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.78026	-0.2365	10	0.02654	T	1	.	0.8265	0.01121	0.4343:0.1622:0.2456:0.1579	.	970	Q5VWN6	F208B_HUMAN	D	970	ENSP00000328426:G970D	ENSP00000328426:G970D	G	+	2	0	C10orf18	5828299	0.005000	0.15991	0.006000	0.13384	0.001000	0.01503	0.480000	0.22244	0.056000	0.16144	-0.136000	0.14681	GGC		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		71	297	0	0	0	1	0	71	297				
PPP2R1B	5519	broad.mit.edu	37	11	111622994	111622994	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111622994G>A	ENST00000527614.1	-	10	1292	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000341980.6_Silent_p.I364I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000393055.2_Silent_p.I282I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	409					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGAGCTGACGGATTCCAATCA	0.473																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1225-1227)atC>atT		protein phosphatase 2, regulatory subunit A, beta							115.0	103.0	107.0					11																	111622994		2201	4297	6498	SO:0001819	synonymous_variant	5519						protein binding	g.chr11:111622994G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1227C>T	11.37:g.111622994G>A						PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000393055.2_Silent_p.I282I|PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000341980.6_Silent_p.I364I	p.I409I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	10	1292	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	409					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	37	c.1227C>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.216002	0.22373	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.57	3.7	0.42460	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-5.2892	10.441	0.44466	0.1598:0.0:0.8402:0.0	.	.	.	.	S	110	.	.	P	-	1	0	PPP2R1B	111128204	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.189000	0.42621	0.818000	0.34468	-0.149000	0.13747	CCG		0.473	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		104	410	0	0	0	1	0	104	410				
LRRC4	64101	broad.mit.edu	37	7	127670198	127670198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127670198C>T	ENST00000249363.3	-	2	753	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	166					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CGGTTGAAGGCGTAAGAGGGG	0.572																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(496-498)Gcc>Acc		leucine rich repeat containing 4							65.0	70.0	69.0					7																	127670198		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670198C>T	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.496G>A	7.37:g.127670198C>T	ENSP00000249363:p.Ala166Thr					SND1_ENST00000354725.3_Intron	p.A166T	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	753	-			166					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.496G>A	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412267	0.62511	.	.	ENSG00000128594	ENST00000249363	D	0.92752	-3.1	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	D	0.93396	0.7894	L	0.47078	1.49	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.92091	0.5680	10	0.31617	T	0.26	.	14.6035	0.68460	0.0:1.0:0.0:0.0	.	166	Q9HBW1	LRRC4_HUMAN	T	166	ENSP00000249363:A166T	ENSP00000249363:A166T	A	-	1	0	LRRC4	127457434	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.841000	0.69409	2.250000	0.74265	0.655000	0.94253	GCC		0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		65	469	0	0	0	1	0	65	469				
GBF1	8729	broad.mit.edu	37	10	104136509	104136509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136509C>T	ENST00000369983.3	+	32	4497	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1413					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAACTTTGAGCTCTGCGTCAA	0.547																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4237-4239)Ctc>Ttc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							79.0	76.0	77.0					10																	104136509		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136509C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4237C>T	10.37:g.104136509C>T	ENSP00000359000:p.Leu1413Phe						p.L1413F	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	32	4497	+		Colorectal(252;0.0236)	1413					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4237C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032462	0.54790	.	.	ENSG00000107862	ENST00000369983	T	0.11495	2.77	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.995	P;P;P	0.59221	0.854;0.733;0.795	T	0.04551	-1.0943	10	0.09843	T	0.71	-13.8769	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1413;1413;1413	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	1413	ENSP00000359000:L1413F	ENSP00000359000:L1413F	L	+	1	0	GBF1	104126499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CTC		0.547	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			63	276	0	0	0	1	0	63	276				
EMC4	51234	broad.mit.edu	37	15	34520760	34520760	+	Silent	SNP	G	G	A	rs375492262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34520760G>A	ENST00000267750.4	+	4	602	c.486G>A	c.(484-486)tcG>tcA	p.S162S	EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	162					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.S162S(1)									CACATGCATCGGATTGGTTAG	0.448																																						ENST00000267750.4																			1	Substitution - coding silent(1)	p.S162S(1)	large_intestine(1)								c.(484-486)tcG>tcA		ER membrane protein complex subunit 4		G		0,4402		0,0,2201	221.0	199.0	206.0		486	3.3	1.0	15		206	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TMEM85	NM_016454.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		162/184	34520760	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	51234							g.chr15:34520760G>A	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.486G>A	15.37:g.34520760G>A						EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron	p.S162S	NM_016454.2	NP_057538.1					4	602	+								A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Silent	SNP	ENST00000267750.4	37	c.486G>A	CCDS10035.1																																																																																				0.448	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		154	663	0	0	0	1	0	154	663				
C4orf46	201725	broad.mit.edu	37	4	159592872	159592872	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159592872C>A	ENST00000379205.4	-	1	326	c.82G>T	c.(82-84)Gca>Tca	p.A28S	C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S|ETFDH_ENST00000307738.5_5'Flank|C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000511912.1_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	28										kidney(1)|lung(3)|skin(1)	5						GGGGAAGATGCTGCAGAGGCG	0.672																																						ENST00000379205.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(82-84)Gca>Tca		chromosome 4 open reading frame 46							19.0	19.0	19.0					4																	159592872		2200	4298	6498	SO:0001583	missense	201725							g.chr4:159592872C>A		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"""renal cancer differentiation gene 1"""						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.82G>T	4.37:g.159592872C>A	ENSP00000368503:p.Ala28Ser					C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S	p.A28S	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN			1	326	-			28					B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	37	c.82G>T	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224322	0.39300	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	4.11	-2.98	0.05513	.	1.353090	0.05058	N	0.479411	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.15350	-1.0440	9	0.23891	T	0.37	.	3.4512	0.07499	0.4545:0.2543:0.0:0.2912	.	28	Q504U0	CD046_HUMAN	S	28	.	ENSP00000368503:A28S	A	-	1	0	C4orf46	159812322	0.070000	0.21116	0.000000	0.03702	0.001000	0.01503	-0.319000	0.08039	-0.435000	0.07264	-0.222000	0.12452	GCA		0.672	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		14	61	1	0	3.45872e-05	1	3.53336e-05	14	61				
SLITRK1	114798	broad.mit.edu	37	13	84453725	84453725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84453725C>T	ENST00000377084.2	-	1	2803	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	640					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGATAAACACGAGCATGCCC	0.562																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1918-1920)Gtg>Atg		SLIT and NTRK-like family, member 1							78.0	64.0	69.0					13																	84453725		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453725C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1918G>A	13.37:g.84453725C>T	ENSP00000366288:p.Val640Met						p.V640M	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2803	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	640					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1918G>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111056	0.77210	.	.	ENSG00000178235	ENST00000377084	T	0.64991	-0.13	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72865	-0.4163	10	0.87932	D	0	-13.4456	18.3497	0.90335	0.0:1.0:0.0:0.0	.	640	Q96PX8	SLIK1_HUMAN	M	640	ENSP00000366288:V640M	ENSP00000366288:V640M	V	-	1	0	SLITRK1	83351726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.047000	0.71038	2.756000	0.94617	0.655000	0.94253	GTG		0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		29	137	0	0	0	1	0	29	137				
SMARCAD1	56916	broad.mit.edu	37	4	95174129	95174129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95174129C>T	ENST00000354268.4	+	9	1325	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	SMARCAD1_ENST00000509418.1_5'Flank|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	418					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GATAACAGAACTCCGGCCCTT	0.383																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1252-1254)Ctc>Ttc		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							92.0	101.0	98.0					4																	95174129		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95174129C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1252C>T	4.37:g.95174129C>T	ENSP00000346217:p.Leu418Phe					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F	p.L418F			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	9	1325	+			418					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1252C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310151	0.60414	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.89196	-2.48;-2.48;-2.47	5.49	5.49	0.81192	.	0.000000	0.44688	D	0.000424	D	0.92071	0.7487	M	0.69823	2.125	0.80722	D	1	P;D	0.55800	0.954;0.973	P;P	0.59889	0.668;0.865	D	0.89337	0.3651	10	0.14656	T	0.56	-7.8768	15.7026	0.77552	0.0:0.8632:0.1368:0.0	.	418;418	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	F	418	ENSP00000351947:L418F;ENSP00000415576:L418F;ENSP00000346217:L418F	ENSP00000346217:L418F	L	+	1	0	SMARCAD1	95393152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.814000	0.55643	2.582000	0.87167	0.655000	0.94253	CTC		0.383	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		129	587	0	0	0	1	0	129	587				
OR2K2	26248	broad.mit.edu	37	9	114090685	114090685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090685C>T	ENST00000374428.1	-	1	115	c.116G>A	c.(115-117)aGc>aAc	p.S39N	OR2K2_ENST00000302681.1_Missense_Mutation_p.S10N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAAAAAAATGCTCCAAATGGT	0.388																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(115-117)aGc>aAc		olfactory receptor, family 2, subfamily K, member 2							47.0	50.0	49.0					9																	114090685		2203	4299	6502	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090685C>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.116G>A	9.37:g.114090685C>T	ENSP00000363550:p.Ser39Asn					OR2K2_ENST00000302681.1_Missense_Mutation_p.S10N	p.S39N			Q8NGT1	OR2K2_HUMAN			1	115	-			39					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.116G>A		.	.	.	.	.	.	.	.	.	.	C	16.69	3.194496	0.58017	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00575	6.46;6.46	4.47	0.0536	0.14307	.	0.334685	0.21273	U	0.077285	T	0.00496	0.0016	L	0.39326	1.205	0.09310	N	1	P	0.40000	0.698	B	0.36134	0.218	T	0.53114	-0.8484	10	0.23302	T	0.38	.	6.853	0.24024	0.0:0.5422:0.2849:0.1729	.	39	Q8NGT1	OR2K2_HUMAN	N	10;39	ENSP00000305055:S10N;ENSP00000363550:S39N	ENSP00000305055:S10N	S	-	2	0	OR2K2	113130506	0.009000	0.17119	0.027000	0.17364	0.973000	0.67179	-0.574000	0.05868	0.200000	0.20447	0.655000	0.94253	AGC		0.388	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		64	219	0	0	0	1	0	64	219				
HSP90AB2P	391634	broad.mit.edu	37	4	13338934	13338934	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13338934A>G	ENST00000602906.1	+	0	722							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						aaATACATTGATCAGGAAGAA	0.408																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13338934A>G	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338934A>G														0	722	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.408	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			31	216	0	0	0	1	0	31	216				
MDGA1	266727	broad.mit.edu	37	6	37619936	37619936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37619936C>T	ENST00000434837.3	-	7	2341	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H|MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	388	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGATCATTGCGGGTCACCAG	0.587																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(1162-1164)cGc>cAc		MAM domain containing glycosylphosphatidylinositol anchor 1							59.0	64.0	63.0					6																	37619936		2039	4162	6201	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37619936C>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1163G>A	6.37:g.37619936C>T	ENSP00000402584:p.Arg388His					MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H|MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H	p.R388H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			7	2341	-			388			Ig-like 4.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.1163G>A	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238185	0.79800	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.67345	-0.26;-0.26;-0.26	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000519	T	0.73385	0.3580	L	0.50993	1.605	0.47584	D	0.999464	D	0.89917	1.0	D	0.85130	0.997	T	0.71728	-0.4505	10	0.40728	T	0.16	.	18.0867	0.89460	0.0:1.0:0.0:0.0	.	388	Q8NFP4	MDGA1_HUMAN	H	388	ENSP00000402584:R388H;ENSP00000297153:R388H;ENSP00000422042:R388H	ENSP00000297153:R388H	R	-	2	0	MDGA1	37727914	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	2.214000	0.42853	2.524000	0.85096	0.655000	0.94253	CGC		0.587	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			59	323	0	0	0	1	0	59	323				
TGM4	7047	broad.mit.edu	37	3	44943361	44943361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44943361G>A	ENST00000296125.4	+	8	977	c.909G>A	c.(907-909)acG>acA	p.T303T	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	303					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T303T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAACCTCACGGTGGACACCT	0.542																																						ENST00000296125.4																			1	Substitution - coding silent(1)	p.T303T(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(907-909)acG>acA		transglutaminase 4	L-Glutamine(DB00130)						127.0	117.0	121.0					3																	44943361		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943361G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.909G>A	3.37:g.44943361G>A							p.T303T	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	8	977	+			303					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.909G>A	CCDS2723.1																																																																																				0.542	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		46	207	0	0	0	1	0	46	207				
CNBP	7555	broad.mit.edu	37	3	128889940	128889940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128889940G>A	ENST00000422453.2	-	4	558	c.398C>T	c.(397-399)aCc>aTc	p.T133I	CNBP_ENST00000451728.2_Missense_Mutation_p.T134I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000446936.2_Missense_Mutation_p.T128I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	133					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTTCACTTTGGTGCAGTCTTT	0.433																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(397-399)aCc>aTc		CCHC-type zinc finger, nucleic acid binding protein							100.0	89.0	93.0					3																	128889940		2203	4300	6503	SO:0001583	missense	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128889940G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.398C>T	3.37:g.128889940G>A	ENSP00000410619:p.Thr133Ile					CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000446936.2_Missense_Mutation_p.T128I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000451728.2_Missense_Mutation_p.T134I	p.T133I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			4	558	-			133					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	c.398C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792571	0.50102	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	5.74	5.74	0.90152	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.152074	0.64402	D	0.000015	T	0.74275	0.3695	M	0.72576	2.205	0.51233	D	0.999914	P;D;P	0.54964	0.955;0.969;0.908	P;P;P	0.55785	0.784;0.675;0.776	T	0.74777	-0.3550	9	0.49607	T	0.09	-4.9209	17.4245	0.87522	0.0:0.0:1.0:0.0	.	116;126;133	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	I	126;133;134;128;116;123;135	.	ENSP00000410619:T133I	T	-	2	0	CNBP	130372630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.013000	0.76373	2.732000	0.93576	0.591000	0.81541	ACC		0.433	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		55	293	0	0	0	1	0	55	293				
DBF4B	80174	broad.mit.edu	37	17	42828513	42828513	+	Silent	SNP	C	C	A	rs538751427	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42828513C>A	ENST00000315005.3	+	14	1878	c.1740C>A	c.(1738-1740)tcC>tcA	p.S580S	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	580					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTTCCCCTCCTATCTCAATG	0.562																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1738-1740)tcC>tcA		DBF4 homolog B (S. cerevisiae)							112.0	97.0	102.0					17																	42828513		2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828513C>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1740C>A	17.37:g.42828513C>A						DBF4B_ENST00000393547.2_Intron	p.S580S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			14	1878	+		Prostate(33;0.0322)	580					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1740C>A	CCDS11485.1																																																																																				0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		112	562	1	0	3.42828e-54	1	4.27804e-54	112	562				
SPATA31A2	642265	broad.mit.edu	37	9	39887020	39887020	+	Missense_Mutation	SNP	C	C	T	rs587599672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39887020C>T	ENST00000456183.2	+	3	291	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	88					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R88R(1)									TAGAGAGTGCCGGAGAGGCCT	0.602													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15181	0.0		0.0	False		,,,				2504	0.0					ENST00000456183.2																			1	Substitution - coding silent(1)	p.R88R(1)	lung(1)								c.(262-264)Cgg>Tgg		SPATA31 subfamily A, member 2							82.0	86.0	84.0					9																	39887020		1837	4048	5885	SO:0001583	missense	642265							g.chr9:39887020C>T			9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A2"""	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.262C>T	9.37:g.39887020C>T	ENSP00000406957:p.Arg88Trp						p.R88W	NM_001040065.1	NP_001035154.1					3	291	+									Missense_Mutation	SNP	ENST00000456183.2	37	c.262C>T	CCDS43809.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599059	0.13939	.	.	ENSG00000204848	ENST00000456183	T	0.04603	3.59	1.51	1.51	0.23008	.	0.630203	0.12182	N	0.492007	T	0.02929	0.0087	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.11329	0.006	T	0.42447	-0.9451	10	0.37606	T	0.19	.	6.4898	0.22109	0.0:1.0:0.0:0.0	.	88	Q5RGS2	F75A2_HUMAN	W	88	ENSP00000406957:R88W	ENSP00000406957:R88W	R	+	1	2	FAM75A2	39877020	0.001000	0.12720	0.039000	0.18376	0.008000	0.06430	0.141000	0.16076	1.172000	0.42781	0.184000	0.17185	CGG		0.602	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037739.1	NM_001040065		103	677	0	0	0	1	0	103	677				
ZNF444	55311	broad.mit.edu	37	19	56658505	56658505	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56658505C>T	ENST00000337080.3	+	3	592	c.225C>T	c.(223-225)gaC>gaT	p.D75D	ZNF444_ENST00000592949.1_Silent_p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCCCGCCGACACGCAGGCCT	0.716																																						ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(223-225)gaC>gaT		zinc finger protein 444							8.0	9.0	9.0					19																	56658505		2157	4220	6377	SO:0001819	synonymous_variant	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56658505C>T	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.225C>T	19.37:g.56658505C>T						ZNF444_ENST00000592949.1_Silent_p.D75D	p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	3	592	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	75			SCAN box.		Q8TEQ9|Q8WU35|Q9NUU1	Silent	SNP	ENST00000337080.3	37	c.225C>T	CCDS12939.1																																																																																				0.716	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		6	59	0	0	0	1	0	6	59				
ZNF544	27300	broad.mit.edu	37	19	58773509	58773509	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773509A>G	ENST00000596652.1	+	6	1771	c.1537A>G	c.(1537-1539)Aca>Gca	p.T513A	ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|ZNF544_ENST00000269829.4_Missense_Mutation_p.T513A|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACATCAGAGGACACACACTGG	0.438																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1537-1539)Aca>Gca		zinc finger protein 544							79.0	81.0	80.0					19																	58773509		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773509A>G	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1537A>G	19.37:g.58773509A>G	ENSP00000469635:p.Thr513Ala					CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.T513A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000596825.1_3'UTR	p.T513A	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2011	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	513					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1537A>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	9.323	1.058531	0.19987	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.11930	2.73;2.73	2.8	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	L	0.42744	1.35	0.09310	N	1	B;B;B	0.25772	0.077;0.134;0.033	B;B;B	0.25140	0.03;0.058;0.015	T	0.32428	-0.9907	9	0.72032	D	0.01	.	3.3834	0.07262	0.6747:0.0:0.1213:0.2041	.	485;485;513	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	A	513;485	ENSP00000269829:T513A;ENSP00000394341:T485A	ENSP00000269829:T513A	T	+	1	0	ZNF544	63465321	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.558000	0.23469	0.295000	0.22570	0.421000	0.28195	ACA		0.438	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		79	322	0	0	0	1	0	79	322				
PTPRE	5791	broad.mit.edu	37	10	129868066	129868066	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129868066A>G	ENST00000254667.3	+	13	1397	c.1118A>G	c.(1117-1119)cAg>cGg	p.Q373R	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	373	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	ATCCGTAATCAGCGCCCTCAG	0.542											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1117-1119)cAg>cGg		protein tyrosine phosphatase, receptor type, E							266.0	210.0	229.0					10																	129868066		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129868066A>G	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1118A>G	10.37:g.129868066A>G	ENSP00000254667:p.Gln373Arg		OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R	p.Q373R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			13	1397	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	373			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1118A>G	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819271	0.90873	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	D;D;D	0.85861	-2.04;-2.04;-2.04	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.90198	3.095	0.80722	D	1	D;D;P;D	0.76494	0.999;0.985;0.949;0.985	D;D;P;D	0.72338	0.977;0.93;0.814;0.93	D	0.93555	0.6890	10	0.45353	T	0.12	.	14.5529	0.68081	1.0:0.0:0.0:0.0	.	351;373;315;373	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	R	373;351;373;315	ENSP00000254667:Q373R;ENSP00000402337:Q373R;ENSP00000303350:Q315R	ENSP00000254667:Q373R	Q	+	2	0	PTPRE	129758056	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.106000	0.94253	2.099000	0.63709	0.533000	0.62120	CAG		0.542	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			85	458	0	0	0	1	0	85	458				
CROCC	9696	broad.mit.edu	37	1	17296826	17296826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17296826C>T	ENST00000375541.5	+	34	5599	c.5530C>T	c.(5530-5532)Cag>Tag	p.Q1844*		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGGCTGCTGCAGGAGCGCCT	0.687																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(5530-5532)Cag>Tag		ciliary rootlet coiled-coil, rootletin							5.0	5.0	5.0					1																	17296826		1889	3811	5700	SO:0001587	stop_gained	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17296826C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5530C>T	1.37:g.17296826C>T	ENSP00000364691:p.Gln1844*						p.Q1844*	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	34	5599	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1844						Nonsense_Mutation	SNP	ENST00000375541.5	37	c.5530C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	44	11.134003	0.99521	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	16.3426	0.83092	0.0:1.0:0.0:0.0	.	.	.	.	X	1844;1725	.	ENSP00000364691:Q1844X	Q	+	1	0	CROCC	17169413	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.884000	0.56175	2.546000	0.85860	0.655000	0.94253	CAG		0.687	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		4	44	0	0	0	1	0	4	44				
DPP7	29952	broad.mit.edu	37	9	140005399	140005399	+	Missense_Mutation	SNP	G	G	A	rs149094336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140005399G>A	ENST00000371579.2	-	12	1280	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	426						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGGTTCCTCCGAATCTGTGGT	0.652																																						ENST00000371579.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(1276-1278)Cgg>Tgg		dipeptidyl-peptidase 7		G	TRP/ARG	6,4390	11.4+/-27.6	0,6,2192	87.0	56.0	66.0		1276	3.7	0.0	9	dbSNP_134	66	0,8600		0,0,4300	yes	missense	DPP7	NM_013379.2	101	0,6,6492	AA,AG,GG		0.0,0.1365,0.0462	probably-damaging	426/493	140005399	6,12990	2198	4300	6498	SO:0001583	missense	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140005399G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1276C>T	9.37:g.140005399G>A	ENSP00000360635:p.Arg426Trp						p.R426W	NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	12	1280	-	all_cancers(76;0.0926)		426					A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	c.1276C>T	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699278	0.48307	0.001365	0.0	ENSG00000176978	ENST00000371579	D	0.92299	-3.01	4.72	3.71	0.42584	.	0.988395	0.08220	N	0.979309	D	0.89125	0.6626	L	0.57536	1.79	0.09310	N	1	D	0.56035	0.974	B	0.37943	0.261	T	0.81420	-0.0941	10	0.49607	T	0.09	-3.1443	11.0004	0.47602	0.0:0.0:0.7615:0.2385	.	426	Q9UHL4	DPP2_HUMAN	W	426	ENSP00000360635:R426W	ENSP00000360635:R426W	R	-	1	2	DPP7	139125220	0.014000	0.17966	0.008000	0.14137	0.018000	0.09664	1.387000	0.34430	2.169000	0.68431	0.561000	0.74099	CGG		0.652	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		23	121	0	0	0	1	0	23	121				
PSMB10	5699	broad.mit.edu	37	16	67969889	67969889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67969889G>A	ENST00000358514.4	-	4	697	c.360C>T	c.(358-360)cgC>cgT	p.R120R	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	GGCGCAGGATGCGAGTGACCG	0.657																																						ENST00000358514.4																			0				NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(358-360)cgC>cgT		proteasome (prosome, macropain) subunit, beta type, 10							20.0	24.0	23.0					16																	67969889		2190	4280	6470	SO:0001819	synonymous_variant	5699				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr16:67969889G>A	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.360C>T	16.37:g.67969889G>A							p.R120R	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	4	697	-		Ovarian(137;0.0563)	120					B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	c.360C>T	CCDS10853.1																																																																																				0.657	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		48	213	0	0	0	1	0	48	213				
ADAMTS4	9507	broad.mit.edu	37	1	161161259	161161259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161161259G>A	ENST00000367996.5	-	9	2611	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	728	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CAGCTTCAGGGCCAAGTAGAT	0.597																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(2182-2184)gCc>gTc		ADAM metallopeptidase with thrombospondin type 1 motif, 4							68.0	69.0	68.0					1																	161161259		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161161259G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2183C>T	1.37:g.161161259G>A	ENSP00000356975:p.Ala728Val						p.A728V	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	2611	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		728			Spacer.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.2183C>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867031	0.91511	.	.	ENSG00000158859	ENST00000367996	T	0.63255	-0.03	4.39	4.39	0.52855	ADAM-TS Spacer 1 (1);	0.088861	0.46758	D	0.000278	T	0.67813	0.2933	M	0.78801	2.425	0.80722	D	1	P	0.45474	0.859	P	0.51777	0.679	T	0.74281	-0.3716	10	0.87932	D	0	.	16.2366	0.82380	0.0:0.0:1.0:0.0	.	728	O75173	ATS4_HUMAN	V	728	ENSP00000356975:A728V	ENSP00000356975:A728V	A	-	2	0	ADAMTS4	159427883	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.382000	0.79729	2.428000	0.82296	0.561000	0.74099	GCC		0.597	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		87	399	0	0	0	1	0	87	399				
TTC27	55622	broad.mit.edu	37	2	33036232	33036232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33036232C>T	ENST00000317907.4	+	17	2371	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	714										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCTGGAGGCTGTATGCCCA	0.453																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2140-2142)Ctg>Ttg		tetratricopeptide repeat domain 27							113.0	112.0	113.0					2																	33036232		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:33036232C>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2140C>T	2.37:g.33036232C>T							p.L714L	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			17	2371	+			714					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.2140C>T	CCDS33176.1																																																																																				0.453	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		50	228	0	0	0	1	0	50	228				
RGL1	23179	broad.mit.edu	37	1	183816811	183816811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183816811G>T	ENST00000360851.3	+	3	428	c.250G>T	c.(250-252)Gct>Tct	p.A84S	RGL1_ENST00000304685.4_Missense_Mutation_p.A119S|RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	84	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCTGCTGACAGCTTTTGGGGA	0.473																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(355-357)Gct>Tct		ral guanine nucleotide dissociation stimulator-like 1							172.0	170.0	170.0					1																	183816811		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183816811G>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.250G>T	1.37:g.183816811G>T	ENSP00000354097:p.Ala84Ser					RGL1_ENST00000367531.1_Missense_Mutation_p.A119S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S|RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000360851.3_Missense_Mutation_p.A84S	p.A119S	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			4	816	+			84			N-terminal Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.355G>T		.	.	.	.	.	.	.	.	.	.	G	28.4	4.913433	0.92178	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.51	5.51	0.81932	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	N	0.16708	0.43	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.87578	0.994;0.998;0.997;0.997	T	0.48614	-0.9020	10	0.21014	T	0.42	.	19.7945	0.96474	0.0:0.0:1.0:0.0	.	84;82;84;119	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	S	119;119;82;84;84	ENSP00000303192:A119S;ENSP00000356501:A119S;ENSP00000438662:A82S;ENSP00000354097:A84S;ENSP00000437355:A84S	ENSP00000303192:A119S	A	+	1	0	RGL1	182083434	1.000000	0.71417	0.884000	0.34674	0.998000	0.95712	9.184000	0.94893	2.746000	0.94184	0.591000	0.81541	GCT		0.473	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		17	737	1	0	2.23348e-06	1	2.30073e-06	17	737				
SBNO2	22904	broad.mit.edu	37	19	1109544	1109544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109544C>T	ENST00000361757.3	-	28	3414	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A	SBNO2_ENST00000587024.1_Silent_p.A1049A|SBNO2_ENST00000438103.2_Silent_p.A1002A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1059					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGTCAGCGCCAGCGACT	0.731																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(3175-3177)gcG>gcA		strawberry notch homolog 2 (Drosophila)							7.0	9.0	8.0					19																	1109544		1863	4049	5912	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1109544C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3177G>A	19.37:g.1109544C>T						SBNO2_ENST00000438103.2_Silent_p.A1002A|SBNO2_ENST00000587024.1_Silent_p.A1049A	p.A1059A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	28	3414	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	1059					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.3177G>A	CCDS45894.1																																																																																				0.731	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		8	50	0	0	0	1	0	8	50				
F8	2157	broad.mit.edu	37	X	154175987	154175987	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154175987G>A	ENST00000360256.4	-	13	2299	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S700L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTCCATCGACATGAAGAC	0.408																																						ENST00000360256.4																			2	Substitution - Missense(2)	p.S700L(2)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM010857	F8	M		c.(2098-2100)tCg>tTg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						147.0	139.0	142.0					X																	154175987		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154175987G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2099C>T	X.37:g.154175987G>A	ENSP00000353393:p.Ser700Leu						p.S700L	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			13	2299	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		700			F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2099C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	8.872	0.949534	0.18356	.	.	ENSG00000185010	ENST00000360256	D	0.98207	-4.79	4.55	3.68	0.42216	Cupredoxin (2);	0.708495	0.13962	N	0.350791	D	0.93959	0.8066	N	0.21097	0.63	0.24012	N	0.996173	D	0.55172	0.97	B	0.39840	0.311	D	0.88960	0.3393	10	0.51188	T	0.08	-11.974	6.0793	0.19933	0.1092:0.1868:0.704:0.0	.	700	P00451	FA8_HUMAN	L	700	ENSP00000353393:S700L	ENSP00000353393:S700L	S	-	2	0	F8	153829181	0.890000	0.30428	0.997000	0.53966	0.299000	0.27559	1.647000	0.37260	0.829000	0.34733	-0.192000	0.12808	TCG		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			54	489	0	0	0	1	0	54	489				
SNRK	54861	broad.mit.edu	37	3	43344702	43344702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43344702G>T	ENST00000296088.7	+	3	311	c.7G>T	c.(7-9)Gga>Tga	p.G3*	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CAGCATGGCAGGATTTAAGCG	0.363																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(7-9)Gga>Tga		SNF related kinase							88.0	84.0	85.0					3																	43344702		1825	4087	5912	SO:0001587	stop_gained	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43344702G>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.7G>T	3.37:g.43344702G>T	ENSP00000296088:p.Gly3*					SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*|SNRK_ENST00000462810.1_3'UTR	p.G3*	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	3	311	+			3						Nonsense_Mutation	SNP	ENST00000296088.7	37	c.7G>T	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	40	8.126873	0.98667	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	.	.	.	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8493	0.85989	0.0:0.1286:0.8714:0.0	.	.	.	.	X	3	.	ENSP00000296088:G3X	G	+	1	0	SNRK	43319706	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	1.425000	0.47237	0.655000	0.94253	GGA		0.363	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		51	249	1	0	2.0833e-19	1	2.32388e-19	51	249				
NFIX	4784	broad.mit.edu	37	19	13192511	13192511	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13192511G>T	ENST00000592199.1	+	8	1096	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000358552.3_Missense_Mutation_p.A324S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S|NFIX_ENST00000588228.1_Missense_Mutation_p.A319S|NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	366					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGGGCCACAGCATCAGCCCT	0.662																																						ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(970-972)Gca>Tca		nuclear factor I/X (CCAAT-binding transcription factor)							48.0	58.0	55.0					19																	13192511		2151	4246	6397	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13192511G>T	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1096G>T	19.37:g.13192511G>T	ENSP00000467512:p.Ala366Ser					NFIX_ENST00000588228.1_Missense_Mutation_p.A319S|NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S|NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000592199.1_Missense_Mutation_p.A366S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S	p.A324S			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		6	970	+			366					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.970G>T		.	.	.	.	.	.	.	.	.	.	G	14.63	2.592520	0.46214	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	T;T	0.41758	0.99;0.99	5.8	5.8	0.92144	.	0.053036	0.85682	D	0.000000	T	0.56863	0.2014	L	0.52364	1.645	0.51233	D	0.999917	D;D;D;D;D	0.89917	1.0;0.999;0.996;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.994;0.987;0.998;0.994	T	0.44452	-0.9327	10	0.07482	T	0.82	.	18.8323	0.92145	0.0:0.0:1.0:0.0	.	374;365;328;366;366	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	S	366;366;328;324	ENSP00000380781:A366S;ENSP00000351354:A324S	ENSP00000264825:A328S	A	+	1	0	NFIX	13053511	1.000000	0.71417	0.448000	0.26945	0.969000	0.65631	4.895000	0.63214	2.755000	0.94549	0.655000	0.94253	GCA		0.662	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		40	210	1	0	1.07121e-22	1	1.21384e-22	40	210				
GAPVD1	26130	broad.mit.edu	37	9	128104578	128104578	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128104578G>T	ENST00000495955.1	+	19	3336	c.3046G>T	c.(3046-3048)Gat>Tat	p.D1016Y	GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000312123.9_Splice_Site_p.D995Y|GAPVD1_ENST00000394104.2_Splice_Site_p.D1016Y|GAPVD1_ENST00000297933.6_Splice_Site_p.D1016Y|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043Y|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000265956.4_Splice_Site_p.D990Y			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1016					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AACACTCACAGGTTTGTAGAC	0.403																																						ENST00000394104.2																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e17+1		GTPase activating protein and VPS9 domains 1							140.0	134.0	136.0					9																	128104578		2203	4300	6503	SO:0001630	splice_region_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128104578G>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3046+1G>T	9.37:g.128104578G>T						GAPVD1_ENST00000265956.4_Splice_Site_p.D990_splice|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043_splice|GAPVD1_ENST00000312123.9_Splice_Site_p.D995_splice|GAPVD1_ENST00000297933.6_Splice_Site_p.D1016_splice|GAPVD1_ENST00000495955.1_Splice_Site_p.D1016_splice|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000470056.1_Intron	p.D1016_splice			Q14C86	GAPD1_HUMAN			17	3206	+			1016					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Splice_Site	SNP	ENST00000495955.1	37	c.3046_splice		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552272	0.65311	.	.	ENSG00000165219	ENST00000394105;ENST00000394104;ENST00000265956;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.07	6.07	0.98685	.	0.089689	0.85682	D	0.000000	T	0.56761	0.2007	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.49559	0.61;0.729;0.729;0.925	B;P;P;P	0.51355	0.372;0.474;0.474;0.667	T	0.48670	-0.9015	9	0.05436	T	0.98	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1016;995;1016;1043	Q14C86;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.	Y	1043;1016;990;1016;1016;995	.	ENSP00000265956:D990Y	D	+	1	0	GAPVD1	127144399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.047000	0.76599	2.885000	0.99019	0.655000	0.94253	GAT		0.403	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		Missense_Mutation	16	428	1	0	2.31682e-05	1	2.36778e-05	16	428				
CPSF1	29894	broad.mit.edu	37	8	145623813	145623813	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145623813C>A	ENST00000349769.3	-	19	1867	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	591					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTCCATGATCTCCTGCCCCG	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1771-1773)gaG>gaT		cleavage and polyadenylation specific factor 1, 160kDa							83.0	89.0	87.0					8																	145623813		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623813C>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1773G>T	8.37:g.145623813C>A	ENSP00000339353:p.Glu591Asp						p.E591D	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		19	1867	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		591					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1773G>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419153	0.83559	.	.	ENSG00000071894	ENST00000349769	T	0.54675	0.56	5.65	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.49350	1.555	0.53005	D	0.999964	P	0.47604	0.898	P	0.53722	0.733	T	0.48115	-0.9063	10	0.30854	T	0.27	-9.2522	7.7805	0.29062	0.0:0.7454:0.0:0.2546	.	591	Q10570	CPSF1_HUMAN	D	591	ENSP00000339353:E591D	ENSP00000339353:E591D	E	-	3	2	CPSF1	145594621	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.540000	0.45727	0.742000	0.32697	0.655000	0.94253	GAG		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		78	753	1	0	2.1672e-28	1	2.52168e-28	78	753				
SIN3B	23309	broad.mit.edu	37	19	16977334	16977334	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16977334C>T	ENST00000248054.5	+	12	1794	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	SIN3B_ENST00000595541.1_Silent_p.S181S|SIN3B_ENST00000379803.1_Silent_p.S623S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTCCAAGAGCTTGCTCAACG	0.622																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1867-1869)agC>agT		SIN3 transcription regulator family member B							137.0	97.0	111.0					19																	16977334		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16977334C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1773C>T	19.37:g.16977334C>T						SIN3B_ENST00000595541.1_Silent_p.S181S|SIN3B_ENST00000248054.5_Silent_p.S591S	p.S623S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			13	1883	+			623						Silent	SNP	ENST00000248054.5	37	c.1869C>T																																																																																					0.622	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		68	364	0	0	0	1	0	68	364				
TUBGCP6	85378	broad.mit.edu	37	22	50655270	50655270	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50655270C>T	ENST00000248846.5	-	0	5612				TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000492092.1_3'UTR|SELO_ENST00000380903.2_Silent_p.N551N			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGAGCAGGAACCAGGGCCACT	0.682																																						ENST00000380903.2																			0											c.(1651-1653)aaC>aaT									23.0	32.0	29.0					22																	50655270		2185	4272	6457	SO:0001628	intergenic_variant	0							g.chr22:50655270C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50655270C>T						RP3-402G11.5_ENST00000492092.1_3'UTR	p.N551N	NM_031454.1	NP_113642.1					7	1711	+								Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.1653C>T	CCDS14087.1																																																																																				0.682	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		28	168	0	0	0	1	0	28	168				
NLGN2	57555	broad.mit.edu	37	17	7318933	7318933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7318933G>A	ENST00000302926.2	+	6	1214	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	381					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CATGCTCATCGGCGTCAACCA	0.587																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(1141-1143)Ggc>Agc		neuroligin 2							202.0	157.0	172.0					17																	7318933		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7318933G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1141G>A	17.37:g.7318933G>A	ENSP00000305288:p.Gly381Ser					NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	p.G381S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			6	1214	+		Prostate(122;0.157)	381					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1141G>A	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948818	0.92660	.	.	ENSG00000169992	ENST00000302926	D	0.86030	-2.06	5.41	5.41	0.78517	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94163	0.7416	10	0.87932	D	0	.	16.7464	0.85473	0.0:0.0:1.0:0.0	.	381	Q8NFZ4	NLGN2_HUMAN	S	381	ENSP00000305288:G381S	ENSP00000305288:G381S	G	+	1	0	NLGN2	7259657	1.000000	0.71417	0.928000	0.36995	0.911000	0.54048	9.507000	0.97996	2.826000	0.97356	0.561000	0.74099	GGC		0.587	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		128	593	0	0	0	1	0	128	593				
USHBP1	83878	broad.mit.edu	37	19	17373654	17373654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373654C>A	ENST00000252597.3	-	4	522	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGAAACACATCGGGGGCCCCA	0.652																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(349-351)Gat>Tat		Usher syndrome 1C binding protein 1							57.0	65.0	62.0					19																	17373654		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373654C>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.349G>T	19.37:g.17373654C>A	ENSP00000252597:p.Asp117Tyr					USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y|USHBP1_ENST00000598570.1_5'UTR	p.D117Y	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			4	522	-			117						Missense_Mutation	SNP	ENST00000252597.3	37	c.349G>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053407	0.19907	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.23950	1.92;1.88	3.98	1.83	0.25207	.	0.503260	0.17836	N	0.160369	T	0.30665	0.0772	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69654	0.936;0.965;0.965	T	0.03354	-1.1045	10	0.87932	D	0	-7.551	4.9626	0.14074	0.0:0.7191:0.0:0.2809	.	53;117;117	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	Y	117;53;117	ENSP00000252597:D117Y;ENSP00000407902:D53Y	ENSP00000252597:D117Y	D	-	1	0	USHBP1	17234654	0.005000	0.15991	0.045000	0.18777	0.018000	0.09664	1.028000	0.30128	0.960000	0.38005	0.563000	0.77884	GAT		0.652	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		141	501	1	0	3.73943e-79	1	4.7788e-79	141	501				
PRSS16	10279	broad.mit.edu	37	6	27218821	27218821	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27218821T>C	ENST00000230582.3	+	6	607	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	198					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCCTTAGTTCCCCCATCT	0.592																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.e6-1		protease, serine, 16 (thymus)							64.0	71.0	69.0					6																	27218821		2203	4300	6503	SO:0001630	splice_region_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27218821T>C	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.592-1T>C	6.37:g.27218821T>C						PRSS16_ENST00000421826.2_Intron	p.F198_splice	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			6	607	+			198					O75416	Splice_Site	SNP	ENST00000230582.3	37	c.591_splice	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.343518|4.343518	0.82022|0.82022	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467|ENST00000475106	T|.	0.16897|.	2.31|.	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	0.163731|.	0.53938|.	D|.	0.000042|.	T|T	0.71005|0.71005	0.3289|0.3289	M|M	0.88979|0.88979	2.995|2.995	0.47862|0.47862	D|D	0.999538|0.999538	D;P|.	0.57257|.	0.979;0.587|.	D;B|.	0.71414|.	0.973;0.333|.	T|T	0.75714|0.75714	-0.3221|-0.3221	9|5	.|.	.|.	.|.	-12.8934|-12.8934	9.3482|9.3482	0.38122|0.38122	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	198;198|.	C9JI59;Q9NQE7|.	.;TSSP_HUMAN|.	L|A	198|89	ENSP00000230582:F198L|.	.|.	F|V	+|+	1|2	0|0	PRSS16|PRSS16	27326800|27326800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	1.194000|1.194000	0.32174|0.32174	1.987000|1.987000	0.57996|0.57996	0.460000|0.460000	0.39030|0.39030	TTC|GTT		0.592	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		Missense_Mutation	88	482	0	0	0	1	0	88	482				
CHST11	50515	broad.mit.edu	37	12	105151191	105151191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105151191C>T	ENST00000303694.5	+	3	1108	c.669C>T	c.(667-669)aaC>aaT	p.N223N	CHST11_ENST00000549260.1_Silent_p.N218N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	223					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.N223N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AGCGGAAGAACGCCACCCAGG	0.567																																						ENST00000303694.5																			1	Substitution - coding silent(1)	p.N223N(1)	large_intestine(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(667-669)aaC>aaT		carbohydrate (chondroitin 4) sulfotransferase 11							126.0	107.0	114.0					12																	105151191		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151191C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.669C>T	12.37:g.105151191C>T						CHST11_ENST00000549260.1_Silent_p.N218N	p.N223N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1108	+			223					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.669C>T	CCDS9099.1																																																																																				0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		61	297	0	0	0	1	0	61	297				
NT5DC1	221294	broad.mit.edu	37	6	116439102	116439102	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116439102T>C	ENST00000319550.4	+	6	605	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	175							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATGTCAGCTTTTAAGGGTAA	0.328																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(523-525)Ttt>Ctt		5'-nucleotidase domain containing 1							92.0	93.0	92.0					6																	116439102		2203	4298	6501	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116439102T>C	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.523T>C	6.37:g.116439102T>C	ENSP00000326858:p.Phe175Leu						p.F175L	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	6	605	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	175					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.523T>C	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	T	34	5.311997	0.95655	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.20881	2.85;2.04	5.76	5.76	0.90799	HAD-like domain (1);	0.109289	0.64402	D	0.000002	T	0.32102	0.0818	L	0.53561	1.675	0.80722	D	1	D;P;D	0.59767	0.986;0.94;0.984	D;P;P	0.67900	0.954;0.884;0.721	T	0.02567	-1.1140	10	0.52906	T	0.07	-8.5095	16.3634	0.83296	0.0:0.0:0.0:1.0	.	125;175;175	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	L	175	ENSP00000326858:F175L;ENSP00000393578:F175L	ENSP00000326858:F175L	F	+	1	0	NT5DC1	116545795	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.866000	0.75506	2.324000	0.78689	0.533000	0.62120	TTT		0.328	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		40	163	0	0	0	1	0	40	163				
AEBP2	121536	broad.mit.edu	37	12	19615452	19615452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19615452G>A	ENST00000398864.3	+	2	706	c.680G>A	c.(679-681)aGt>aAt	p.S227N	AEBP2_ENST00000266508.9_Missense_Mutation_p.S227N|AEBP2_ENST00000360995.4_Missense_Mutation_p.S11N|AEBP2_ENST00000541908.1_5'UTR	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	227	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGCATAAGCAGTACTATAATG	0.343																																						ENST00000266508.9																			0				ovary(1)	1						c.(679-681)aGt>aAt		AE binding protein 2							51.0	45.0	47.0					12																	19615452		1869	4104	5973	SO:0001583	missense	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19615452G>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.680G>A	12.37:g.19615452G>A	ENSP00000381840:p.Ser227Asn					AEBP2_ENST00000360995.4_Missense_Mutation_p.S11N|AEBP2_ENST00000398864.3_Missense_Mutation_p.S227N|AEBP2_ENST00000541908.1_5'UTR	p.S227N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			2	681	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		227			Interaction with RBBP4.|Ser-rich.		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	c.680G>A	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791578	0.90367	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;T	0.92495	-3.05;-3.05;-0.45	5.55	5.55	0.83447	.	.	.	.	.	D	0.93455	0.7912	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.93912	0.7198	9	0.66056	D	0.02	0.2426	19.6941	0.96016	0.0:0.0:1.0:0.0	.	227	Q6ZN18	AEBP2_HUMAN	N	227;161;227;11	ENSP00000381840:S227N;ENSP00000266508:S227N;ENSP00000354267:S11N	ENSP00000266508:S227N	S	+	2	0	AEBP2	19506719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.885000	0.99019	0.655000	0.94253	AGT		0.343	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		13	61	0	0	0	1	0	13	61				
PRKCH	5583	broad.mit.edu	37	14	62014512	62014512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62014512G>A	ENST00000332981.5	+	13	2198	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	RP11-47I22.1_ENST00000556543.1_RNA|PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	605	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCAGGGAGGCGAGCACGCCAT	0.498																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1813-1815)Gag>Aag		protein kinase C, eta							263.0	261.0	262.0					14																	62014512		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:62014512G>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1813G>A	14.37:g.62014512G>A	ENSP00000329127:p.Glu605Lys					PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A	p.E605K	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	13	2198	+			605			Protein kinase.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1813G>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424392	0.96111	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.53206	0.63;0.63	5.99	5.99	0.97316	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.61311	0.2337	L	0.33137	0.985	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.61123	-0.7126	10	0.66056	D	0.02	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	605	P24723	KPCL_HUMAN	K	605;444	ENSP00000329127:E605K;ENSP00000450981:E444K	ENSP00000329127:E605K	E	+	1	0	PRKCH	61084265	1.000000	0.71417	0.927000	0.36925	0.595000	0.36748	9.805000	0.99149	2.840000	0.97914	0.655000	0.94253	GAG		0.498	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		290	1412	0	0	0	1	0	290	1412				
ANKRD17	26057	broad.mit.edu	37	4	73990976	73990976	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73990976C>T	ENST00000358602.4	-	17	3404	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	ANKRD17_ENST00000330838.6_Silent_p.E845E|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.E983E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1096					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACCAGTTCCTCGTGGCCAC	0.388																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(3286-3288)gaG>gaA		ankyrin repeat domain 17							151.0	147.0	148.0					4																	73990976		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73990976C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3288G>A	4.37:g.73990976C>T						ANKRD17_ENST00000330838.6_Silent_p.E845E|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.E983E	p.E1096E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	3404	-	Breast(15;0.000295)		1096					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.3288G>A	CCDS34004.1																																																																																				0.388	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		107	462	0	0	0	1	0	107	462				
KHNYN	23351	broad.mit.edu	37	14	24901383	24901383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24901383G>A	ENST00000251343.5	+	3	1055	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	306							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAAGGGAAGGCCCTGGGGAA	0.647											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(916-918)Gcc>Acc		KH and NYN domain containing							82.0	86.0	85.0					14																	24901383		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24901383G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.916G>A	14.37:g.24901383G>A	ENSP00000251343:p.Ala306Thr		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T	p.A306T			O15037	KHNYN_HUMAN			3	1055	+			306					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.916G>A	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540476	0.13250	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.23950	1.88;1.88;1.88	4.96	1.95	0.26073	.	1.291830	0.04908	N	0.452731	T	0.14700	0.0355	L	0.27053	0.805	0.19775	N	0.99995	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	4.1275	0.10134	0.1963:0.0:0.6217:0.182	.	347;306	D3DS77;O15037	.;KHNYN_HUMAN	T	306	ENSP00000251343:A306T;ENSP00000451106:A306T;ENSP00000450799:A306T	ENSP00000251343:A306T	A	+	1	0	KHNYN	23971223	0.741000	0.28217	0.110000	0.21437	0.668000	0.39293	1.130000	0.31393	0.507000	0.28148	-0.448000	0.05591	GCC		0.647	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			46	176	0	0	0	1	0	46	176				
UFD1L	7353	broad.mit.edu	37	22	19459280	19459280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19459280G>A	ENST00000263202.10	-	4	350	c.221C>T	c.(220-222)tCg>tTg	p.S74L	UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	74					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CATGCGGTCCGAATTCTTATT	0.522																																						ENST00000263202.9																			0				large_intestine(3)|upper_aerodigestive_tract(1)	4						c.(220-222)tCg>tTg		ubiquitin fusion degradation 1 like (yeast)							109.0	88.0	95.0					22																	19459280		2203	4300	6503	SO:0001583	missense	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19459280G>A	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.221C>T	22.37:g.19459280G>A	ENSP00000263202:p.Ser74Leu					UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L	p.S74L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN			4	350	-	Colorectal(54;0.0993)		74					A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	37	c.221C>T	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986677	0.74589	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054;ENST00000474226	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.46157	1.445	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.17722	0.019;0.007;0.007	T	0.14254	-1.0479	10	0.33940	T	0.23	.	19.7254	0.96162	0.0:0.0:1.0:0.0	.	74;74;74	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	L	74;63;74;74;63;69;10	ENSP00000263202:S74L;ENSP00000354079:S63L;ENSP00000382439:S74L;ENSP00000406680:S63L;ENSP00000418390:S69L;ENSP00000418295:S10L	ENSP00000263202:S74L	S	-	2	0	UFD1L	17839280	1.000000	0.71417	0.945000	0.38365	0.970000	0.65996	9.476000	0.97823	2.732000	0.93576	0.650000	0.86243	TCG		0.522	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6			77	265	0	0	0	1	0	77	265				
ITIH3	3699	broad.mit.edu	37	3	52831234	52831234	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52831234A>G	ENST00000449956.2	+	5	506	c.500A>G	c.(499-501)tAc>tGc	p.Y167C	ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	167					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGGCAAGTACGAGATGTAC	0.562																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(499-501)tAc>tGc		inter-alpha-trypsin inhibitor heavy chain 3							47.0	54.0	52.0					3																	52831234		2103	4215	6318	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52831234A>G		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.500A>G	3.37:g.52831234A>G	ENSP00000415769:p.Tyr167Cys					ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	p.Y167C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	5	506	+			167					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.500A>G	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353441	0.82243	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.04156	3.69;4.24	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.91561	3.22	0.49389	D	0.999783	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.08411	-1.0723	10	0.72032	D	0.01	-27.3236	13.0967	0.59197	1.0:0.0:0.0:0.0	.	167;167	E7ET33;Q06033	.;ITIH3_HUMAN	C	167;155;162;167;167	ENSP00000413922:Y167C;ENSP00000415769:Y167C	ENSP00000273291:Y162C	Y	+	2	0	ITIH3	52806274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.287000	0.72671	2.279000	0.76181	0.533000	0.62120	TAC		0.562	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		6	66	0	0	0	1	0	6	66				
HECTD1	25831	broad.mit.edu	37	14	31576881	31576881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31576881G>A	ENST00000399332.1	-	37	6998	c.6510C>T	c.(6508-6510)ggC>ggT	p.G2170G	HECTD1_ENST00000553700.1_Silent_p.G2170G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2170	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGGTCCCAAGCCAGTTCCTT	0.358																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6508-6510)ggC>ggT		HECT domain containing E3 ubiquitin protein ligase 1							66.0	63.0	64.0					14																	31576881		1804	4071	5875	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576881G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6510C>T	14.37:g.31576881G>A						HECTD1_ENST00000553700.1_Silent_p.G2170G	p.G2170G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	37	6998	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2170			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.6510C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	6.123	0.390926	0.11581	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.4	0.363	0.16118	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	-7.9649	1.3289	0.02130	0.2089:0.1226:0.4159:0.2526	.	.	.	.	V	536	.	.	A	-	2	0	HECTD1	30646632	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	0.423000	0.21313	-0.210000	0.10140	-0.274000	0.10170	GCT		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			64	236	0	0	0	1	0	64	236				
PPP1R26	9858	broad.mit.edu	37	9	138378979	138378979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138378979G>T	ENST00000356818.2	+	4	3172	c.2623G>T	c.(2623-2625)Gag>Tag	p.E875*	PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.E875*	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	875					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGCCAGGCCAGAGGTGCTGTG	0.652																																						ENST00000356818.2																			0											c.(2623-2625)Gag>Tag		protein phosphatase 1, regulatory subunit 26							31.0	38.0	36.0					9																	138378979		2169	4276	6445	SO:0001587	stop_gained	9858					nucleolus	protein binding	g.chr9:138378979G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2623G>T	9.37:g.138378979G>T	ENSP00000349274:p.Glu875*					PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.E875*|PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.E875*	p.E875*	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3172	+			875					Q86WU0|Q8WVV0|Q9Y4D3	Nonsense_Mutation	SNP	ENST00000356818.2	37	c.2623G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	44	11.162334	0.99525	.	.	ENSG00000196422	ENST00000356818	.	.	.	4.62	4.62	0.57501	.	0.388892	0.22443	N	0.059994	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-27.089	8.8504	0.35196	0.1041:0.0:0.8959:0.0	.	.	.	.	X	875	.	ENSP00000349274:E875X	E	+	1	0	KIAA0649	137518800	0.902000	0.30710	0.096000	0.21009	0.453000	0.32348	2.234000	0.43035	2.132000	0.65825	0.462000	0.41574	GAG		0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		10	549	1	0	3.07112e-06	1	3.16074e-06	10	549				
PIGQ	9091	broad.mit.edu	37	16	624165	624165	+	Missense_Mutation	SNP	G	G	A	rs148273392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:624165G>A	ENST00000026218.5	+	2	179	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M|PIGQ_ENST00000321878.5_Missense_Mutation_p.V31M|PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	31					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GAGCAGCGCCGTGGTCCTGGC	0.701																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(91-93)Gtg>Atg		phosphatidylinositol glycan anchor biosynthesis, class Q		G	MET/VAL,MET/VAL	0,4400		0,0,2200	76.0	61.0	66.0		91,91	5.2	0.9	16	dbSNP_134	66	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	PIGQ	NM_004204.3,NM_148920.1	21,21	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	31/582,31/761	624165	1,12995	2200	4298	6498	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624165G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.91G>A	16.37:g.624165G>A	ENSP00000026218:p.Val31Met					PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M|PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M|PIGQ_ENST00000026218.5_Missense_Mutation_p.V31M	p.V31M	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	250	+		Hepatocellular(780;0.00335)	31					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.91G>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620397	0.66787	0.0	1.16E-4	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.58652	0.38;0.43;0.36;0.42;0.43;0.42;1.68;0.32	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.63843	1.955	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.981;0.982;0.992;0.988	T	0.77101	-0.2712	10	0.87932	D	0	-31.9028	17.6476	0.88153	0.0:0.0:1.0:0.0	.	45;31;31;31	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	M	31	ENSP00000293874:V31M;ENSP00000386760:V31M;ENSP00000386554:V31M;ENSP00000413753:V31M;ENSP00000326674:V31M;ENSP00000387820:V31M;ENSP00000026218:V31M;ENSP00000439650:V31M	ENSP00000026218:V31M	V	+	1	0	PIGQ	564166	1.000000	0.71417	0.943000	0.38184	0.593000	0.36681	6.413000	0.73308	2.409000	0.81822	0.511000	0.50034	GTG		0.701	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		58	155	0	0	0	1	0	58	155				
NXPE3	91775	broad.mit.edu	37	3	101535756	101535756	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101535756T>G	ENST00000491511.2	+	7	1996	c.1040T>G	c.(1039-1041)aTt>aGt	p.I347S	NXPE3_ENST00000273347.5_Missense_Mutation_p.I347S|NXPE3_ENST00000422132.1_Missense_Mutation_p.I347S|NXPE3_ENST00000477909.1_Missense_Mutation_p.I347S	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	347						extracellular region (GO:0005576)											CCTGACAACATTACAGAGTGC	0.398																																						ENST00000422132.1																			0											c.(1039-1041)aTt>aGt		neurexophilin and PC-esterase domain family, member 3							180.0	175.0	176.0					3																	101535756		2203	4300	6503	SO:0001583	missense	91775							g.chr3:101535756T>G	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1040T>G	3.37:g.101535756T>G	ENSP00000417485:p.Ile347Ser					NXPE3_ENST00000273347.5_Missense_Mutation_p.I347S|NXPE3_ENST00000477909.1_Missense_Mutation_p.I347S|NXPE3_ENST00000491511.1_Missense_Mutation_p.I347S	p.I347S							4	1237	+								A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.1040T>G	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828500	0.90955	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.86	5.86	0.93980	.	0.252557	0.45126	D	0.000400	T	0.31575	0.0801	M	0.85462	2.755	0.80722	D	1	P	0.47253	0.892	P	0.47941	0.562	T	0.16364	-1.0405	10	0.72032	D	0.01	-14.4097	16.5602	0.84551	0.0:0.0:0.0:1.0	.	347	Q969Y0	FA55C_HUMAN	S	347	ENSP00000273347:I347S;ENSP00000417485:I347S;ENSP00000418369:I347S;ENSP00000396421:I347S	ENSP00000273347:I347S	I	+	2	0	FAM55C	103018446	0.945000	0.32115	0.997000	0.53966	0.975000	0.68041	6.164000	0.71885	2.367000	0.80283	0.528000	0.53228	ATT		0.398	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		164	656	0	0	0	1	0	164	656				
CTPS1	1503	broad.mit.edu	37	1	41461643	41461643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41461643G>A	ENST00000372621.4	+	8	1283	c.775G>A	c.(775-777)Gag>Aag	p.E259K	CTPS1_ENST00000543104.1_Missense_Mutation_p.E266K|CTPS1_ENST00000372616.1_Missense_Mutation_p.E259K|CTPS1_ENST00000541520.1_Missense_Mutation_p.E28K	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						GTTGTTAGAGGAGCAAGGGGT	0.408																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(775-777)Gag>Aag		CTP synthase 1	L-Glutamine(DB00130)						110.0	113.0	112.0					1																	41461643		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41461643G>A	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.775G>A	1.37:g.41461643G>A	ENSP00000361704:p.Glu259Lys					CTPS1_ENST00000372616.1_Missense_Mutation_p.E259K|CTPS1_ENST00000543104.1_Missense_Mutation_p.E266K|CTPS1_ENST00000541520.1_Missense_Mutation_p.E28K	p.E259K	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			8	1283	+			259						Missense_Mutation	SNP	ENST00000372621.4	37	c.775G>A	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064417	0.20067	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000543104;ENST00000372616	T;T;T	0.44083	0.94;0.93;0.94	5.81	4.9	0.64082	CTP synthase, N-terminal (1);	0.140808	0.64402	D	0.000008	T	0.31638	0.0803	L	0.31845	0.965	0.58432	D	0.99999	B;B	0.14805	0.001;0.011	B;B	0.21546	0.009;0.035	T	0.08534	-1.0717	10	0.11182	T	0.66	.	13.6622	0.62374	0.0746:0.0:0.9254:0.0	.	266;259	B7Z9C4;P17812	.;PYRG1_HUMAN	K	259;28;266;259	ENSP00000361704:E259K;ENSP00000442646:E28K;ENSP00000361699:E259K	ENSP00000361699:E259K	E	+	1	0	CTPS	41234230	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	5.178000	0.65037	1.466000	0.48025	-0.145000	0.13849	GAG		0.408	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		35	324	0	0	0	1	0	35	324				
DSCAML1	57453	broad.mit.edu	37	11	117651219	117651219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117651219C>T	ENST00000321322.6	-	2	534	c.533G>A	c.(532-534)cGc>cAc	p.R178H	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	118	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTTTGACGCGGATGTTGGG	0.587																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(532-534)cGc>cAc		Down syndrome cell adhesion molecule like 1							91.0	92.0	92.0					11																	117651219		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117651219C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.533G>A	11.37:g.117651219C>T	ENSP00000315465:p.Arg178His					DSCAML1_ENST00000527706.1_Intron	p.R178H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	2	534	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	118			Ig-like C2-type 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.533G>A	CCDS8384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.48|10.48	1.363367|1.363367	0.24684|0.24684	.|.	.|.	ENSG00000177103|ENSG00000177103	ENST00000525836|ENST00000321322	.|T	.|0.39997	.|1.05	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.01771|0.01771	-0.73|-0.73	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.14783|0.14783	-1.0460|-1.0460	6|9	0.87932|0.09843	D|T	0|0.71	.|.	18.9124|18.9124	0.92491|0.92491	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|118	.|Q8TD84	.|DSCL1_HUMAN	T|H	20|178	.|ENSP00000315465:R178H	ENSP00000436387:A20T|ENSP00000315465:R178H	A|R	-|-	1|2	0|0	DSCAML1|DSCAML1	117156429|117156429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.436000|2.436000	0.44819|0.44819	2.536000|2.536000	0.85505|0.85505	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		141	639	0	0	0	1	0	141	639				
PLXNB3	5365	broad.mit.edu	37	X	153038807	153038807	+	Missense_Mutation	SNP	G	G	A	rs373016226		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153038807G>A	ENST00000361971.5	+	18	3143	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1033H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1010	IPT/TIG 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTTCCGCTACACCGCC	0.692																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3097-3099)cGc>cAc		plexin B3		G	HIS/ARG,HIS/ARG	0,3811		0,0,1626,559	32.0	26.0	28.0		3029,3098	-9.6	0.6	X		28	1,6716		0,1,2426,1863	no	missense,missense	PLXNB3	NM_005393.2,NM_001163257.1	29,29	0,1,4052,2422	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign	1010/1910,1033/1933	153038807	1,10527	2185	4290	6475	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153038807G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3029G>A	X.37:g.153038807G>A	ENSP00000355378:p.Arg1010His					PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1010H	p.R1033H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			19	3369	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1010			IPT/TIG 3.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3098G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.286038	0.23478	0.0	1.49E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.94	-9.61	0.00550	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.850231	0.10782	N	0.634810	T	0.50154	0.1599	N	0.11000	0.08	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.002;0.003;0.004	T	0.33979	-0.9847	10	0.40728	T	0.16	.	7.8288	0.29330	0.2055:0.0935:0.6149:0.0861	.	663;1033;1010	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	1033;1010;663;620	ENSP00000442736:R1033H;ENSP00000355378:R1010H;ENSP00000445569:R663H;ENSP00000441919:R620H	ENSP00000355378:R1010H	R	+	2	0	PLXNB3	152692001	0.000000	0.05858	0.592000	0.28758	0.389000	0.30415	-0.818000	0.04467	-2.030000	0.00929	-0.422000	0.05995	CGC		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			20	84	0	0	0	1	0	20	84				
RBL1	5933	broad.mit.edu	37	20	35696435	35696435	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35696435T>G	ENST00000373664.3	-	3	511	c.445A>C	c.(445-447)Aat>Cat	p.N149H	RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	149					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCATATGGATTTTGAAATATA	0.328																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(445-447)Aat>Cat		retinoblastoma-like 1 (p107)							66.0	72.0	70.0					20																	35696435		2203	4298	6501	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35696435T>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.445A>C	20.37:g.35696435T>G	ENSP00000362768:p.Asn149His					RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	p.N149H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			3	511	-		Myeloproliferative disorder(115;0.00878)	149					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.445A>C	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.19|15.19	2.759401|2.759401	0.49468|0.49468	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000525052|ENST00000373664;ENST00000344359	.|T;T	.|0.73789	.|-0.78;-0.78	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Domain of unknown function DUF3452, retinoblastoma-associated (1);	.|0.049235	.|0.85682	.|D	.|0.000000	D|D	0.82999|0.82999	0.5159|0.5159	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999982|0.999982	.|D;B	.|0.89917	.|1.0;0.368	.|D;B	.|0.74348	.|0.983;0.275	T|T	0.82133|0.82133	-0.0608|-0.0608	5|10	.|0.37606	.|T	.|0.19	-9.9237|-9.9237	15.4744|15.4744	0.75465|0.75465	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|149;149	.|P28749-2;P28749	.|.;RBL1_HUMAN	N|H	8|149	.|ENSP00000362768:N149H;ENSP00000343646:N149H	.|ENSP00000343646:N149H	K|N	-|-	3|1	2|0	RBL1|RBL1	35129849|35129849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.767000|2.767000	0.47637|0.47637	2.242000|2.242000	0.73789|0.73789	0.482000|0.482000	0.46254|0.46254	AAA|AAT		0.328	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		67	349	0	0	0	1	0	67	349				
EXOSC10	5394	broad.mit.edu	37	1	11151608	11151608	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11151608G>T	ENST00000376936.4	-	4	468	c.419C>A	c.(418-420)cCt>cAt	p.P140H	EXOSC10_ENST00000544779.1_Missense_Mutation_p.P140H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P140H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	140					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGGGAGGACAGGCTGTTGATT	0.468																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(418-420)cCt>cAt		exosome component 10							82.0	82.0	82.0					1																	11151608		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151608G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.419C>A	1.37:g.11151608G>T	ENSP00000366135:p.Pro140His					EXOSC10_ENST00000376936.4_Missense_Mutation_p.P140H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P140H	p.P140H			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	4	424	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	140					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.419C>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970680	0.74246	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.928	D	0.83870	0.0273	9	0.72032	D	0.01	-19.5432	19.5478	0.95307	0.0:0.0:1.0:0.0	.	140;140	Q01780-2;Q01780	.;EXOSX_HUMAN	H	140	.	ENSP00000307307:P140H	P	-	2	0	EXOSC10	11074195	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.022000	0.93678	2.868000	0.98415	0.555000	0.69702	CCT		0.468	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		8	223	1	0	0.000673444	1	0.000681208	8	223				
CDC16	8881	broad.mit.edu	37	13	115002285	115002285	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115002285G>T	ENST00000356221.3	+	3	223	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	CDC16_ENST00000360383.3_Missense_Mutation_p.D39Y|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252458.6_5'UTR			Q13042	CDC16_HUMAN	cell division cycle 16	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGAACCCCAGGACATCTATTG	0.413																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(115-117)Gac>Tac		cell division cycle 16							129.0	129.0	129.0					13																	115002285		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115002285G>T	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.115G>T	13.37:g.115002285G>T	ENSP00000348554:p.Asp39Tyr					CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000356221.3_Missense_Mutation_p.D39Y|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y|CDC16_ENST00000375310.1_5'UTR	p.D39Y	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		3	313	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	39					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.115G>T	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126752	0.56721	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000252457	T;T;T	0.35973	1.28;1.28;1.28	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.988;0.992;0.989	T	0.70019	-0.4987	9	.	.	.	-6.0586	18.4048	0.90532	0.0:0.0:1.0:0.0	.	39;38;38;39	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	Y	39;39;38	ENSP00000353549:D39Y;ENSP00000348554:D39Y;ENSP00000252457:D38Y	.	D	+	1	0	CDC16	114020387	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	8.425000	0.90270	2.824000	0.97209	0.655000	0.94253	GAC		0.413	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		100	485	1	0	1.41717e-37	1	1.7028e-37	100	485				
RWDD4	201965	broad.mit.edu	37	4	184572479	184572479	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184572479A>T	ENST00000326397.5	-	3	379	c.107T>A	c.(106-108)aTa>aAa	p.I36K	RWDD4_ENST00000512740.1_Intron|RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000327570.9_Splice_Site_p.I36K|RNU6-479P_ENST00000516348.1_RNA	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	36	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						ATTTTCACCTATCTGAAGAGA	0.353																																						ENST00000326397.5																			0				large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.e3-1		RWD domain containing 4							100.0	100.0	100.0					4																	184572479		2203	4300	6503	SO:0001630	splice_region_variant	201965							g.chr4:184572479A>T	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.106-1T>A	4.37:g.184572479A>T						RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000327570.9_Splice_Site_p.I36_splice|RWDD4_ENST00000512740.1_Intron	p.I36_splice	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN			3	379	-			36			RWD.		B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Splice_Site	SNP	ENST00000326397.5	37	c.105_splice	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.676715	0.88445	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000506467	T;T	0.27890	1.64;1.64	5.46	5.46	0.80206	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.134765	0.64402	D	0.000002	T	0.54127	0.1839	M	0.87547	2.89	0.80722	D	1	P	0.51933	0.949	P	0.54210	0.745	T	0.62685	-0.6802	10	0.56958	D	0.05	-23.0167	15.5389	0.76024	1.0:0.0:0.0:0.0	.	36	Q6NW29	RWDD4_HUMAN	K	36;36;28	ENSP00000388920:I36K;ENSP00000332177:I36K	ENSP00000388920:I36K	I	-	2	0	RWDD4	184809473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.383000	0.90157	2.086000	0.62901	0.533000	0.62120	ATA		0.353	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682	Missense_Mutation	8	480	0	0	0	1	0	8	480				
RGS8	85397	broad.mit.edu	37	1	182635136	182635136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182635136G>A	ENST00000483095.2	-	5	418	c.161C>T	c.(160-162)gCa>gTa	p.A54V	RGS8_ENST00000367556.1_Missense_Mutation_p.A54V|RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	54					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AAAGGAATCTGCCCACCTCGT	0.408																																					Ovarian(189;1262 3804 41973)	ENST00000483095.2																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						c.(160-162)gCa>gTa		regulator of G-protein signaling 8							170.0	170.0	170.0					1																	182635136		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182635136G>A	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.161C>T	1.37:g.182635136G>A	ENSP00000426289:p.Ala54Val					RGS8_ENST00000367556.1_Missense_Mutation_p.A54V|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V|RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000491420.2_5'UTR	p.A54V			P57771	RGS8_HUMAN			5	418	-			54					B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.161C>T	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220884	0.58560	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.47	5.47	0.80525	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.058699	0.64402	D	0.000002	T	0.32615	0.0835	L	0.61218	1.895	0.44862	D	0.997874	B;P	0.39424	0.398;0.673	B;B	0.37480	0.047;0.251	T	0.17228	-1.0376	10	0.66056	D	0.02	.	12.5654	0.56306	0.0:0.1673:0.8327:0.0	.	54;72	P57771;P57771-2	RGS8_HUMAN;.	V	54;72;54;54;54	ENSP00000426289:A54V;ENSP00000258302:A72V;ENSP00000356528:A54V;ENSP00000356527:A54V	ENSP00000258302:A72V	A	-	2	0	RGS8	180901759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.191000	0.58372	2.561000	0.86390	0.655000	0.94253	GCA		0.408	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		113	574	0	0	0	1	0	113	574				
SLC6A3	6531	broad.mit.edu	37	5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGTAGGCCGCATAGATGGG	0.632																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1726-1728)gCg>gTg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						70.0	61.0	64.0					5																	1403077		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1403077G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1727C>T	5.37:g.1403077G>A	ENSP00000270349:p.Ala576Val					SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		13	1854	-			576			Interaction with TGFB1I1.		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1727C>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181833	0.57800	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75477	-0.94;-0.94	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.56769	1.78	0.80722	D	1	B	0.28783	0.222	B	0.27076	0.076	T	0.62077	-0.6930	10	0.06757	T	0.87	.	14.0283	0.64599	0.0:0.0:1.0:0.0	.	576	Q01959	SC6A3_HUMAN	V	576	ENSP00000270349:A576V;ENSP00000399806:A576V	ENSP00000270349:A576V	A	-	2	0	SLC6A3	1456077	1.000000	0.71417	0.110000	0.21437	0.909000	0.53808	6.701000	0.74624	1.905000	0.55150	0.298000	0.19748	GCG		0.632	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		28	161	0	0	0	1	0	28	161				
OR14A16	284532	broad.mit.edu	37	1	247978191	247978191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978191T>C	ENST00000357627.1	-	1	840	c.841A>G	c.(841-843)Acc>Gcc	p.T281A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGATTAAAGGTTGGGGGCAGC	0.408																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(841-843)Acc>Gcc		olfactory receptor, family 14, subfamily A, member 16							63.0	62.0	62.0					1																	247978191		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978191T>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.841A>G	1.37:g.247978191T>C	ENSP00000350248:p.Thr281Ala						p.T281A	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	840	-			281					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.841A>G	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353733	0.11182	.	.	ENSG00000196772	ENST00000357627	T	0.34472	1.36	3.69	-6.23	0.02052	GPCR, rhodopsin-like superfamily (1);	0.484707	0.16856	U	0.196758	T	0.13884	0.0336	N	0.17674	0.51	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.35076	-0.9803	10	0.07644	T	0.81	.	6.2342	0.20754	0.6221:0.1559:0.0:0.222	.	281	Q8NHC5	O14AG_HUMAN	A	281	ENSP00000350248:T281A	ENSP00000350248:T281A	T	-	1	0	OR14A16	246044814	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.457000	0.02374	-1.478000	0.01869	-1.447000	0.01057	ACC		0.408	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		45	223	0	0	0	1	0	45	223				
EGLN2	112398	broad.mit.edu	37	19	41306816	41306816	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41306816G>T	ENST00000593726.1	+	1	1367	c.339G>T	c.(337-339)cgG>cgT	p.R113R	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.R113R|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.R113R|CTC-490E21.12_ENST00000601627.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	113	Bipartite nuclear localization signal.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	AGGGCGCACGGCCTGAGGCCC	0.687																																						ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(337-339)cgG>cgT		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						14.0	14.0	14.0					19																	41306816		2193	4290	6483	SO:0001819	synonymous_variant	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41306816G>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.339G>T	19.37:g.41306816G>T						EGLN2_ENST00000303961.4_Silent_p.R113R|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Silent_p.R113R	p.R113R			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1367	+			113					A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	ENST00000593726.1	37	c.339G>T	CCDS12567.1																																																																																				0.687	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			11	93	1	0	3.86212e-05	1	3.93988e-05	11	93				
FILIP1L	11259	broad.mit.edu	37	3	99567800	99567800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567800G>A	ENST00000354552.3	-	5	3190	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T907I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	907						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGGTCTGGAGTAACCTTTAT	0.463																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2719-2721)aCt>aTt		filamin A interacting protein 1-like							228.0	225.0	226.0					3																	99567800		2033	4185	6218	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567800G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2720C>T	3.37:g.99567800G>A	ENSP00000346560:p.Thr907Ile					FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T907I|CMSS1_ENST00000496116.1_Intron	p.T907I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3190	-			907					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2720C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716834	0.48622	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.40756	1.86;1.02;1.53;1.86;1.53;1.57	6.11	5.24	0.73138	.	0.000000	0.53938	D	0.000050	T	0.62502	0.2433	M	0.62723	1.935	0.43824	D	0.996392	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.66143	-0.5997	10	0.72032	D	0.01	-14.1944	15.423	0.75028	0.0661:0.0:0.9339:0.0	.	907;907	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	907;483;667;907;667;653;667	ENSP00000346560:T907I;ENSP00000417774:T483I;ENSP00000419642:T667I;ENSP00000327880:T907I;ENSP00000373192:T667I;ENSP00000419874:T667I	ENSP00000327880:T907I	T	-	2	0	FILIP1L	101050490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	1.605000	0.50152	0.609000	0.83330	ACT		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		202	887	0	0	0	1	0	202	887				
HECW1	23072	broad.mit.edu	37	7	43484460	43484460	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484460C>T	ENST00000395891.2	+	11	2294	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	HECW1_ENST00000453890.1_Silent_p.I563I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	563					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACATCCGCATCCACACCCTGC	0.682																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1687-1689)atC>atT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							40.0	48.0	46.0					7																	43484460		2125	4232	6357	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484460C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1689C>T	7.37:g.43484460C>T						HECW1_ENST00000453890.1_Silent_p.I563I	p.I563I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2294	+			563					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1689C>T	CCDS5469.2																																																																																				0.682	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		70	388	0	0	0	1	0	70	388				
SRMS	6725	broad.mit.edu	37	20	62178461	62178461	+	Splice_Site	SNP	G	G	A	rs143524113	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178461G>A	ENST00000217188.1	-	1	396	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	119					peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGTACTCACGGTTGGTCTGA	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15870	0.0		0.0	False		,,,				2504	0.0					ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.e1+1		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites		G	LEU/PRO	8,4398	12.9+/-30.5	0,8,2195	49.0	54.0	52.0		356	2.3	0.8	20	dbSNP_134	52	0,8598		0,0,4299	yes	missense-near-splice	SRMS	NM_080823.2	98	0,8,6494	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging	119/489	62178461	8,12996	2203	4299	6502	SO:0001630	splice_region_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178461G>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.356+1C>T	20.37:g.62178461G>A							p.P119_splice	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	396	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		119						Splice_Site	SNP	ENST00000217188.1	37	c.356_splice	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942287	0.53079	0.001816	0.0	ENSG00000125508	ENST00000217188	T	0.29142	1.58	4.34	2.3	0.28687	Src homology-3 domain (1);SH2 motif (2);	0.251627	0.28082	N	0.016680	T	0.26268	0.0641	M	0.66939	2.045	0.80722	D	1	P	0.37914	0.611	B	0.32022	0.139	T	0.02983	-1.1086	9	.	.	.	.	8.5409	0.33393	0.0839:0.0:0.7645:0.1517	.	119	Q9H3Y6	SRMS_HUMAN	L	119	ENSP00000217188:P119L	.	P	-	2	0	SRMS	61648905	1.000000	0.71417	0.800000	0.32199	0.928000	0.56348	1.731000	0.38135	0.249000	0.21456	0.491000	0.48974	CCC		0.632	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823	Missense_Mutation	10	331	0	0	0	1	0	10	331				
PAFAH1B3	5050	broad.mit.edu	37	19	42804140	42804140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42804140C>A	ENST00000262890.3	-	4	651	c.390G>T	c.(388-390)caG>caT	p.Q130H	PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.Q130H	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	130					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CAACCCGGGCCTGGGGCTGTC	0.587																																						ENST00000538771.1																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(388-390)caG>caT		platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)							124.0	120.0	122.0					19																	42804140		2203	4300	6503	SO:0001583	missense	5050				lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding	g.chr19:42804140C>A	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 1 subunit"""	603074	"""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)"", ""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"""			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.390G>T	19.37:g.42804140C>A	ENSP00000262890:p.Gln130His					PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.Q130H	p.Q130H	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN			5	746	-		Prostate(69;0.0704)	130					Q53X88	Missense_Mutation	SNP	ENST00000262890.3	37	c.390G>T	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241555	0.39598	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.42900	0.96;0.96	5.59	3.42	0.39159	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.230320	0.44483	N	0.000445	T	0.32912	0.0845	L	0.61387	1.9	0.41722	D	0.989517	B	0.32425	0.371	B	0.26969	0.075	T	0.11792	-1.0573	10	0.36615	T	0.2	-25.9708	5.0651	0.14578	0.1687:0.6609:0.0:0.1704	.	130	Q15102	PA1B3_HUMAN	H	130	ENSP00000444935:Q130H;ENSP00000262890:Q130H	ENSP00000262890:Q130H	Q	-	3	2	PAFAH1B3	47495980	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.531000	0.23052	0.687000	0.31509	0.563000	0.77884	CAG		0.587	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463726.1	NM_002573		18	765	1	0	3.32936e-07	1	3.45006e-07	18	765				
NLRP5	126206	broad.mit.edu	37	19	56539009	56539009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56539009G>A	ENST00000390649.3	+	7	1410	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	470	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTGCCAGGTGCCCGCCGTGG	0.632																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1408-1410)gtG>gtA		NLR family, pyrin domain containing 5							31.0	36.0	34.0					19																	56539009		2121	4236	6357	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539009G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1410G>A	19.37:g.56539009G>A							p.V470V	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1410	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	470			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1410G>A	CCDS12938.1																																																																																				0.632	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		35	198	0	0	0	1	0	35	198				
C1orf74	148304	broad.mit.edu	37	1	209956447	209956447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956447C>T	ENST00000294811.1	-	2	789	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	178										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AACAGGATAGCCCAGGAGGAT	0.507																																						ENST00000294811.1																			0				endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15						c.(532-534)gGc>gAc		chromosome 1 open reading frame 74							103.0	110.0	108.0					1																	209956447		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956447C>T	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.533G>A	1.37:g.209956447C>T	ENSP00000294811:p.Gly178Asp						p.G178D	NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	789	-			178						Missense_Mutation	SNP	ENST00000294811.1	37	c.533G>A	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131307	0.77549	.	.	ENSG00000162757	ENST00000294811	T	0.57752	0.38	5.27	5.27	0.74061	.	0.120074	0.56097	D	0.000026	T	0.70631	0.3246	M	0.75264	2.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73260	-0.4039	10	0.62326	D	0.03	-20.993	12.2654	0.54674	0.0:0.922:0.0:0.078	.	178	Q96LT6	CA074_HUMAN	D	178	ENSP00000294811:G178D	ENSP00000294811:G178D	G	-	2	0	C1orf74	208023070	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.448000	0.66612	2.460000	0.83146	0.655000	0.94253	GGC		0.507	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		134	445	0	0	0	1	0	134	445				
ABCA9	10350	broad.mit.edu	37	17	67012395	67012395	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67012395T>C	ENST00000340001.4	-	22	3249	c.3038A>G	c.(3037-3039)gAa>gGa	p.E1013G	ABCA9_ENST00000453985.2_Splice_Site_p.E1013G|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Splice_Site_p.E1013G	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1013					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATACTTACTTCAAAAAATGT	0.303																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.e22+1		ATP-binding cassette, sub-family A (ABC1), member 9							73.0	75.0	74.0					17																	67012395		2203	4300	6503	SO:0001630	splice_region_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67012395T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3039+1A>G	17.37:g.67012395T>C						ABCA9_ENST00000453985.2_Splice_Site_p.E1013_splice|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Splice_Site_p.E1013_splice	p.E1013_splice	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			22	3249	-	Breast(10;1.47e-12)		1013					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Splice_Site	SNP	ENST00000340001.4	37	c.3039_splice	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	2.146	-0.395629	0.04899	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87729	-2.29;-2.29	5.1	1.41	0.22369	.	0.315900	0.21806	N	0.068845	T	0.79488	0.4454	L	0.55834	1.745	0.19575	N	0.999967	B;B	0.12013	0.004;0.005	B;B	0.15052	0.007;0.012	T	0.61860	-0.6976	10	0.22706	T	0.39	.	4.7522	0.13066	0.2888:0.0834:0.0:0.6278	.	1013;1013	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	1013;996;1013;1008	ENSP00000342216:E1013G;ENSP00000359767:E1013G	ENSP00000342216:E1013G	E	-	2	0	ABCA9	64523990	0.000000	0.05858	0.995000	0.50966	0.008000	0.06430	-0.336000	0.07863	0.274000	0.22072	-0.468000	0.05107	GAA		0.303	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	Missense_Mutation	27	243	0	0	0	1	0	27	243				
PTPRT	11122	broad.mit.edu	37	20	40980807	40980807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40980807G>A	ENST00000373187.1	-	10	1678	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373198.4_Missense_Mutation_p.T560I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	560	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAATAGGTGGTCCCTGGGTA	0.557																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1678-1680)aCc>aTc		protein tyrosine phosphatase, receptor type, T							82.0	88.0	86.0					20																	40980807		1946	4134	6080	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40980807G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1679C>T	20.37:g.40980807G>A	ENSP00000362283:p.Thr560Ile					PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373187.1_Missense_Mutation_p.T560I	p.T560I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			10	1914	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	560			Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1679C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102881	0.94245	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049111	0.85682	D	0.000000	D	0.84687	0.5527	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.989	D	0.86715	0.1938	10	0.87932	D	0	.	20.5541	0.99286	0.0:0.0:1.0:0.0	.	560;560	O14522-1;O14522	.;PTPRT_HUMAN	I	560	ENSP00000362286:T560I;ENSP00000362283:T560I;ENSP00000362289:T560I;ENSP00000348408:T560I;ENSP00000362294:T560I;ENSP00000362280:T560I;ENSP00000362297:T560I	ENSP00000348408:T560I	T	-	2	0	PTPRT	40414221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.864000	0.98301	0.551000	0.68910	ACC		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			87	374	0	0	0	1	0	87	374				
ACAN	176	broad.mit.edu	37	15	89400745	89400745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400745C>A	ENST00000561243.1	+	11	4929	c.4929C>A	c.(4927-4929)ccC>ccA	p.P1643P	ACAN_ENST00000559004.1_Silent_p.P1643P|ACAN_ENST00000352105.7_Silent_p.P1643P|ACAN_ENST00000439576.2_Silent_p.P1643P			P16112	PGCA_HUMAN	aggrecan	1684	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGCCCACCCTCTGGCCTGC	0.522																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4927-4929)ccC>ccA		aggrecan							145.0	148.0	147.0					15																	89400745		1935	4123	6058	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400745C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4929C>A	15.37:g.89400745C>A						ACAN_ENST00000559004.1_Silent_p.P1643P|ACAN_ENST00000352105.7_Silent_p.P1643P|ACAN_ENST00000561243.1_Silent_p.P1643P	p.P1643P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5303	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1643					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.4929C>A	CCDS53970.1																																																																																				0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		134	637	1	0	1.12488e-73	1	1.43224e-73	134	637				
WWP2	11060	broad.mit.edu	37	16	69971090	69971090	+	Silent	SNP	C	C	T	rs144693307	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69971090C>T	ENST00000359154.2	+	20	2288	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000356003.2_Silent_p.N729N|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	729	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGCTTCAACGAGGTGGCCC	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18767	0.0		0.0	False		,,,				2504	0.0					ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2185-2187)aaC>aaT		WW domain containing E3 ubiquitin protein ligase 2		C	,	0,4396		0,0,2198	78.0	73.0	75.0		2187,870	-9.8	0.5	16	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	729/871,290/432	69971090	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69971090C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2187C>T	16.37:g.69971090C>T						WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000356003.2_Silent_p.N729N	p.N729N	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			20	2288	+			729			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.2187C>T	CCDS10885.1																																																																																				0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		56	240	0	0	0	1	0	56	240				
NCOR1	9611	broad.mit.edu	37	17	16024477	16024477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16024477G>A	ENST00000268712.3	-	16	1998	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C|NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	581					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGGCCCTTACGGCGGCCCTGA	0.597																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(1741-1743)Cgt>Tgt		nuclear receptor corepressor 1							76.0	80.0	79.0					17																	16024477		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16024477G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1741C>T	17.37:g.16024477G>A	ENSP00000268712:p.Arg581Cys					NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C|NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C|NCOR1_ENST00000583226.1_5'UTR	p.R581C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	16	1998	-			581					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.1741C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524587	0.85600	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.33865	1.39;1.39;1.39	5.7	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	P;P;D	0.87578	0.863;0.556;0.998	T	0.59322	-0.7476	10	0.87932	D	0	-9.9335	14.0288	0.64601	0.0:0.0:0.5936:0.4064	.	472;581;581	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	C	581;581;472;472	ENSP00000268712:R581C;ENSP00000379192:R581C;ENSP00000379189:R472C	ENSP00000268712:R581C	R	-	1	0	NCOR1	15965202	1.000000	0.71417	0.922000	0.36590	0.990000	0.78478	3.895000	0.56258	0.268000	0.21939	0.655000	0.94253	CGT		0.597	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		138	626	0	0	0	1	0	138	626				
MKI67	4288	broad.mit.edu	37	10	129906354	129906354	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906354G>T	ENST00000368654.3	-	13	4125	c.3750C>A	c.(3748-3750)ccC>ccA	p.P1250P	MKI67_ENST00000368653.3_Silent_p.P890P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1250	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGAGTCGCAGGGTATTTTAG	0.512																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3748-3750)ccC>ccA		marker of proliferation Ki-67							123.0	124.0	124.0					10																	129906354		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906354G>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3750C>A	10.37:g.129906354G>T						MKI67_ENST00000368653.3_Silent_p.P890P	p.P1250P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4125	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1250			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.3750C>A	CCDS7659.1																																																																																				0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		129	625	1	0	7.97229e-56	1	9.97061e-56	129	625				
CLUH	23277	broad.mit.edu	37	17	2604557	2604557	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2604557G>T	ENST00000570628.2	-	7	893	c.788C>A	c.(787-789)tCc>tAc	p.S263Y	CLUH_ENST00000435359.1_Missense_Mutation_p.S263Y|CLUH_ENST00000538975.1_Missense_Mutation_p.S263Y			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	263					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											ATAAGCTGTGGACCTGCAGGG	0.657																																						ENST00000570628.1																			0											c.(787-789)tCc>tAc		clustered mitochondria (cluA/CLU1) homolog							26.0	29.0	28.0					17																	2604557		1975	4155	6130	SO:0001583	missense	23277							g.chr17:2604557G>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.788C>A	17.37:g.2604557G>T	ENSP00000458986:p.Ser263Tyr					CLUH_ENST00000538975.1_Missense_Mutation_p.S263Y|CLUH_ENST00000435359.1_Missense_Mutation_p.S263Y|CLUH_ENST00000575014.1_Missense_Mutation_p.S195Y	p.S263Y							7	893	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.788C>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437338	0.62955	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.88975	-2.45;-2.45	4.74	4.74	0.60224	GSKIP/TIF31 domain (1);	0.107611	0.64402	D	0.000003	D	0.95695	0.8600	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.984	D	0.96713	0.9527	10	0.87932	D	0	.	16.8771	0.86054	0.0:0.0:1.0:0.0	.	263;263	O75153;C9J6D7	K0664_HUMAN;.	Y	263	ENSP00000388872:S263Y;ENSP00000439628:S263Y	ENSP00000320468:S263Y	S	-	2	0	KIAA0664	2551307	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	9.232000	0.95325	2.466000	0.83321	0.655000	0.94253	TCC		0.657	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		9	116	1	0	1.12685e-05	1	1.15515e-05	9	116				
PDE10A	10846	broad.mit.edu	37	6	165809938	165809938	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165809938C>T	ENST00000366882.1	-	15	1413	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	420					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.R420K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGCGAATTCTATGATACAT	0.373																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.R420K(1)	lung(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1258-1260)aGa>aAa		phosphodiesterase 10A	Dipyridamole(DB00975)						145.0	127.0	133.0					6																	165809938		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165809938C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1259G>A	6.37:g.165809938C>T	ENSP00000355847:p.Arg420Lys					PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K	p.R420K			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	15	1413	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	420					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1259G>A		.	.	.	.	.	.	.	.	.	.	C	10.63	1.403901	0.25291	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67865	-0.29;-0.29	5.34	5.34	0.76211	GAF (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	N	0.16656	0.425	0.53688	D	0.999977	P;B	0.52842	0.956;0.023	D;B	0.65010	0.931;0.014	T	0.54166	-0.8334	10	0.02654	T	1	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	430;420	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	420;448;430;420;419	ENSP00000355847:R420K;ENSP00000346435:R420K	ENSP00000341187:R430K	R	-	2	0	PDE10A	165729928	1.000000	0.71417	0.006000	0.13384	0.661000	0.39034	7.463000	0.80869	2.508000	0.84585	0.650000	0.86243	AGA		0.373	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			84	392	0	0	0	1	0	84	392				
PCDHB3	56132	broad.mit.edu	37	5	140480933	140480933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480933G>A	ENST00000231130.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	234	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCTTAGATATAAACGA	0.547																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(700-702)Gat>Aat									47.0	50.0	49.0					5																	140480933		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480933G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.700G>A	5.37:g.140480933G>A	ENSP00000231130:p.Asp234Asn					AC005754.7_ENST00000607216.1_RNA	p.D234N	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	700	+			234			Cadherin 2.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.700G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308185	0.81247	.	.	ENSG00000113205	ENST00000231130	T	0.74209	-0.82	4.93	4.93	0.64822	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90242	0.6949	H	0.94264	3.515	0.50313	D	0.999865	D	0.89917	1.0	D	0.97110	1.0	D	0.93048	0.6463	9	0.87932	D	0	.	18.1419	0.89642	0.0:0.0:1.0:0.0	.	234	Q9Y5E6	PCDB3_HUMAN	N	234	ENSP00000231130:D234N	ENSP00000231130:D234N	D	+	1	0	PCDHB3	140461117	1.000000	0.71417	0.800000	0.32199	0.536000	0.34869	9.788000	0.99064	2.438000	0.82558	0.655000	0.94253	GAT		0.547	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		81	300	0	0	0	1	0	81	300				
HYOU1	10525	broad.mit.edu	37	11	118919076	118919076	+	Silent	SNP	G	G	A	rs370754185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118919076G>A	ENST00000404233.3	-	20	2384	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	HYOU1_ENST00000525859.1_Silent_p.L692L|HYOU1_ENST00000529972.1_Silent_p.L692L|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	754					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCTGGTACAGCTTGTCCTGG	0.627																																						ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2260-2262)Ctg>Ttg		hypoxia up-regulated 1		G	,	0,4400		0,0,2200	82.0	81.0	81.0		2260,2260	4.6	1.0	11		81	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous	HYOU1	NM_001130991.1,NM_006389.3	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	754/1000,754/1000	118919076	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919076G>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2260C>T	11.37:g.118919076G>A						HYOU1_ENST00000529972.1_Silent_p.L692L|HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Silent_p.L692L	p.L754L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	20	2384	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	754					A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	c.2260C>T	CCDS8408.1																																																																																				0.627	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		106	420	0	0	0	1	0	106	420				
RIF1	55183	broad.mit.edu	37	2	152321120	152321120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152321120G>T	ENST00000243326.5	+	29	5569	c.5086G>T	c.(5086-5088)Gaa>Taa	p.E1696*	RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGTTTGGGAGAATCCTCAAA	0.368																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(5086-5088)Gaa>Taa		RAP1 interacting factor homolog (yeast)							39.0	42.0	41.0					2																	152321120		2202	4298	6500	SO:0001587	stop_gained	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321120G>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5086G>T	2.37:g.152321120G>T	ENSP00000243326:p.Glu1696*					RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*	p.E1696*			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	5569	+			1696					A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	c.5086G>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	42	9.372762	0.99151	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.21	5.21	0.72293	.	0.650546	0.15593	N	0.254318	.	.	.	.	.	.	0.47949	D	0.999554	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.6011	14.4579	0.67428	0.0:0.0:0.8522:0.1478	.	.	.	.	X	1696	.	ENSP00000243326:E1696X	E	+	1	0	RIF1	152029366	0.915000	0.31059	0.025000	0.17156	0.091000	0.18340	2.565000	0.45939	2.581000	0.87130	0.557000	0.71058	GAA		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			10	288	1	0	0.00829132	1	0.00834067	10	288				
MLLT1	4298	broad.mit.edu	37	19	6222534	6222534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6222534G>A	ENST00000252674.7	-	6	871	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	236					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGGGCAGCCGGCCCTCGCCCA	0.642			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(706-708)ggC>ggT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							33.0	32.0	33.0					19																	6222534		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222534G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.708C>T	19.37:g.6222534G>A							p.G236G	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			6	871	-			236					Q14768	Silent	SNP	ENST00000252674.7	37	c.708C>T	CCDS12160.1																																																																																				0.642	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		42	142	0	0	0	1	0	42	142				
IRX2	153572	broad.mit.edu	37	5	2749012	2749012	+	Silent	SNP	G	G	A	rs183565355		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749012G>A	ENST00000382611.6	-	3	1058	c.810C>T	c.(808-810)gaC>gaT	p.D270D	IRX2_ENST00000302057.5_Silent_p.D270D|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	270					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGCCCTCCTCGTCGTCGTCCT	0.731																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(808-810)gaC>gaT		iroquois homeobox 2																																				SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749012G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.810C>T	5.37:g.2749012G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D270D	p.D270D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1058	-			270					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.810C>T	CCDS3868.1																																																																																				0.731	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			25	118	0	0	0	1	0	25	118				
HBS1L	10767	broad.mit.edu	37	6	135287592	135287592	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135287592T>G	ENST00000367837.5	-	17	2124	c.1918A>C	c.(1918-1920)Aat>Cat	p.N640H	HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H|HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	640					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCAATGCATTCTGGCCTTTA	0.328																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1918-1920)Aat>Cat		HBS1-like (S. cerevisiae)							114.0	112.0	112.0					6																	135287592		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287592T>G	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1918A>C	6.37:g.135287592T>G	ENSP00000356811:p.Asn640His					HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H|HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H|HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H	p.N640H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	17	2124	-	Colorectal(23;0.221)		640					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1918A>C	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476985	0.84640	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.65178	-0.14;-0.12;-0.11;-0.13;-0.12;-0.13;0.9	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.76615	-0.2894	10	0.66056	D	0.02	-32.104	16.4277	0.83824	0.0:0.0:0.0:1.0	.	598;640	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	H	640;476;575;598;476;510;364	ENSP00000356811:N640H;ENSP00000436256:N476H;ENSP00000389826:N575H;ENSP00000356800:N598H;ENSP00000356798:N476H;ENSP00000434533:N510H;ENSP00000415305:N364H	ENSP00000356798:N476H	N	-	1	0	HBS1L	135329285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	AAT		0.328	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			91	404	0	0	0	1	0	91	404				
SPINK5	11005	broad.mit.edu	37	5	147486674	147486674	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147486674T>C	ENST00000256084.7	+	17	1596	c.1554T>C	c.(1552-1554)cgT>cgC	p.R518R	SPINK5_ENST00000398454.1_Silent_p.R518R|SPINK5_ENST00000359874.3_Silent_p.R518R	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	518	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGTCCGTGGCCCAGATG	0.463																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1552-1554)cgT>cgC		serine peptidase inhibitor, Kazal type 5							159.0	156.0	157.0					5																	147486674		2022	4183	6205	SO:0001819	synonymous_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147486674T>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1554T>C	5.37:g.147486674T>C						SPINK5_ENST00000256084.7_Silent_p.R518R|SPINK5_ENST00000398454.1_Silent_p.R518R	p.R518R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1627	+			518			Kazal-like 8.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	c.1554T>C	CCDS43382.1																																																																																				0.463	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		131	494	0	0	0	1	0	131	494				
WDR64	128025	broad.mit.edu	37	1	241959584	241959584	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959584T>G	ENST00000366552.2	+	26	3281	c.3074T>G	c.(3073-3075)tTt>tGt	p.F1025C	WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1025										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGTCTAAGATTTCTTCCACTG	0.408																																						ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3073-3075)tTt>tGt		WD repeat domain 64							102.0	90.0	94.0					1																	241959584		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241959584T>G	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3074T>G	1.37:g.241959584T>G	ENSP00000355510:p.Phe1025Cys					WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	p.F1025C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		26	3281	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	1025					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.3074T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.17|11.17	1.560402|1.560402	0.27827|0.27827	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|T	0.46819|0.34472	1.1;0.86;0.87|1.36	5.22|5.22	2.69|2.69	0.31865|0.31865	.|.	0.684160|0.684160	0.13676|0.13676	N|N	0.370531|0.370531	T|T	0.39963|0.39963	0.1098|0.1098	L|L	0.57536|0.57536	1.79|1.79	0.21325|0.21325	N|N	0.99972|0.99972	D;P|.	0.76494|.	0.999;0.947|.	P;P|.	0.59703|.	0.862;0.541|.	T|T	0.24693|0.24693	-1.0153|-1.0153	10|8	0.59425|0.48119	D|T	0.04|0.1	-7.4809|-7.4809	7.511|7.511	0.27573|0.27573	0.3467:0.0:0.0:0.6533|0.3467:0.0:0.0:0.6533	.|.	1025;578|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	C|V	1025;858;629|504	ENSP00000355510:F1025C;ENSP00000402446:F858C;ENSP00000406656:F629C|ENSP00000406342:F504V	ENSP00000355510:F1025C|ENSP00000406342:F504V	F|F	+|+	2|1	0|0	WDR64|WDR64	240026207|240026207	0.996000|0.996000	0.38824|0.38824	0.599000|0.599000	0.28851|0.28851	0.041000|0.041000	0.13682|0.13682	0.723000|0.723000	0.25939|0.25939	0.897000|0.897000	0.36392|0.36392	-0.490000|-0.490000	0.04691|0.04691	TTT|TTC		0.408	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		92	227	0	0	0	1	0	92	227				
CAPZA3	93661	broad.mit.edu	37	12	18891833	18891833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891833G>A	ENST00000317658.3	+	1	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	211					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGACCTGAAAGAAAGCTTGGA	0.398																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(631-633)Gaa>Aaa		capping protein (actin filament) muscle Z-line, alpha 3							66.0	67.0	67.0					12																	18891833		2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891833G>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.631G>A	12.37:g.18891833G>A	ENSP00000326238:p.Glu211Lys						p.E211K	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	789	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	211					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.631G>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941575	0.73557	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.298320	0.31123	N	0.008212	T	0.67599	0.2910	M	0.62723	1.935	0.44611	D	0.997587	P	0.51449	0.945	P	0.55055	0.767	T	0.70454	-0.4867	9	0.59425	D	0.04	-22.2472	14.7091	0.69215	0.0:0.0:1.0:0.0	.	211	Q96KX2	CAZA3_HUMAN	K	211	.	ENSP00000326238:E211K	E	+	1	0	CAPZA3	18783100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.119000	0.50422	2.498000	0.84270	0.462000	0.41574	GAA		0.398	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		52	182	0	0	0	1	0	52	182				
OR2S2	56656	broad.mit.edu	37	9	35957155	35957155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35957155G>A	ENST00000341959.2	-	1	996	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	314					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGCCTTTTGGTCTCAGCAG	0.502																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(940-942)cCa>cTa		olfactory receptor, family 2, subfamily S, member 2							79.0	76.0	77.0					9																	35957155		2203	4299	6502	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957155G>A	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.941C>T	9.37:g.35957155G>A	ENSP00000344040:p.Pro314Leu						p.P314L	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	996	-			314					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.941C>T	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354899	0.24512	.	.	ENSG00000122718	ENST00000341959	T	0.36520	1.25	3.94	-3.85	0.04243	.	1.656080	0.03819	N	0.267279	T	0.17023	0.0409	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20009	-1.0288	10	0.72032	D	0.01	.	2.3083	0.04180	0.1374:0.4289:0.1723:0.2615	.	314	Q9NQN1	OR2S1_HUMAN	L	314	ENSP00000344040:P314L	ENSP00000344040:P314L	P	-	2	0	OR2S2	35947155	0.022000	0.18835	0.000000	0.03702	0.005000	0.04900	-0.017000	0.12590	-0.723000	0.04915	-0.142000	0.14014	CCA		0.502	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		87	329	0	0	0	1	0	87	329				
ZFHX3	463	broad.mit.edu	37	16	72828120	72828120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72828120C>A	ENST00000268489.5	-	9	9133	c.8461G>T	c.(8461-8463)Gtt>Ttt	p.V2821F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2821					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTAGATTAACTGAGGACATG	0.458																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8461-8463)Gtt>Ttt		zinc finger homeobox 3							147.0	131.0	136.0					16																	72828120		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828120C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8461G>T	16.37:g.72828120C>A	ENSP00000268489:p.Val2821Phe					ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F	p.V2821F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9133	-		Ovarian(137;0.13)	2821					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8461G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363561	0.24684	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74526	-0.85;-0.83	5.96	5.96	0.96718	.	0.000000	0.45126	D	0.000396	D	0.83004	0.5160	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.82592	-0.0381	10	0.59425	D	0.04	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2821	Q15911	ZFHX3_HUMAN	F	2821;1907	ENSP00000268489:V2821F;ENSP00000438926:V1907F	ENSP00000268489:V2821F	V	-	1	0	ZFHX3	71385621	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.849000	0.62882	2.823000	0.97156	0.650000	0.86243	GTT		0.458	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		35	524	1	0	1.36161e-19	1	1.52027e-19	35	524				
EDF1	8721	broad.mit.edu	37	9	139756945	139756945	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139756945A>G	ENST00000224073.1	-	5	413				EDF1_ENST00000371648.4_3'UTR|EDF1_ENST00000371649.1_Missense_Mutation_p.V130A	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTGGTTCCCACATCTAATTT	0.602																																						ENST00000371649.1																			0				lung(1)	1						c.(388-390)gTg>gCg		endothelial differentiation-related factor 1							35.0	34.0	35.0					9																	139756945		876	1991	2867	SO:0001627	intron_variant	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139756945A>G	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.386-148T>C	9.37:g.139756945A>G						EDF1_ENST00000224073.1_Intron|EDF1_ENST00000371648.4_3'UTR	p.V130A			O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	415	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	130			HTH cro/C1-type.		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.389T>C	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.721286	0.30503	.	.	ENSG00000107223	ENST00000371649	.	.	.	3.78	-2.91	0.05631	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.22142	N	0.999333	.	.	.	.	.	.	T	0.36383	-0.9750	5	0.45353	T	0.12	.	4.9307	0.13916	0.3943:0.3073:0.0:0.2983	.	.	.	.	A	130	.	ENSP00000360712:V130A	V	-	2	0	EDF1	138876766	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.089000	0.11180	-0.629000	0.05575	-0.444000	0.05651	GTG		0.602	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			15	157	0	0	0	1	0	15	157				
RPL10L	140801	broad.mit.edu	37	14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	153					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(457-459)cGc>cAc		ribosomal protein L10-like							85.0	85.0	85.0					14																	47120482		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120482C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.458G>A	14.37:g.47120482C>T	ENSP00000298283:p.Arg153His						p.R153H	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	546	-			153					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.458G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419639	0.62622	.	.	ENSG00000165496	ENST00000298283	T	0.74947	-0.89	4.57	4.57	0.56435	Ribosomal protein L10e/L16 (2);	0.242055	0.39909	N	0.001228	T	0.82181	0.4981	H	0.95470	3.675	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.82851	-0.0253	10	0.59425	D	0.04	-28.0503	15.6671	0.77238	0.0:1.0:0.0:0.0	.	153	Q96L21	RL10L_HUMAN	H	153	ENSP00000298283:R153H	ENSP00000298283:R153H	R	-	2	0	RPL10L	46190232	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.929000	0.75852	2.824000	0.97209	0.655000	0.94253	CGC		0.517	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			101	385	0	0	0	1	0	101	385				
HLA-F	3134	broad.mit.edu	37	6	29691495	29691495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29691495G>A	ENST00000376861.1	+	3	509	c.125G>A	c.(124-126)cGc>cAc	p.R42H	HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	42	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGAGCCCCGCTACATCGCC	0.687																																						ENST00000376861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(124-126)cGc>cAc		major histocompatibility complex, class I, F							18.0	22.0	21.0					6																	29691495		1480	2692	4172	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29691495G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.125G>A	6.37:g.29691495G>A	ENSP00000366057:p.Arg42His					HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H|HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000440587.2_5'UTR	p.R42H			P30511	HLAF_HUMAN			3	509	+			42			Alpha-1.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.125G>A	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	3.867	-0.028772	0.07589	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	T;T;T;T;T	0.00856	9.34;5.61;9.34;9.34;9.34	1.63	0.666	0.17901	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.288637	0.18382	U	0.142933	T	0.01905	0.0060	M	0.90198	3.095	0.21675	N	0.999592	P;D;D;D	0.76494	0.837;0.999;0.996;0.998	B;D;B;D	0.70716	0.228;0.916;0.198;0.97	T	0.36016	-0.9765	10	0.87932	D	0	.	4.0933	0.09980	0.2471:0.0:0.7529:0.0	.	42;42;42;42	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	H	42	ENSP00000366057:R42H;ENSP00000389590:R42H;ENSP00000334263:R42H;ENSP00000259951:R42H;ENSP00000397376:R42H	ENSP00000259951:R42H	R	+	2	0	HLA-F	29799474	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.327000	0.07955	0.015000	0.14971	0.436000	0.28706	CGC		0.687	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		6	162	0	0	0	1	0	6	162				
RAD51D	5892	broad.mit.edu	37	17	33434103	33434103	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33434103C>T	ENST00000345365.6	-	5	639	c.384G>A	c.(382-384)ctG>ctA	p.L128L	RAD51D_ENST00000394589.4_Silent_p.L128L|RAD51D_ENST00000590016.1_Silent_p.L148L|RAD51D_ENST00000590380.1_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000460118.2_Silent_p.L9L|RAD51D_ENST00000335858.7_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	128					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGTTTTGCTGCAGGCCATGGG	0.547								Direct reversal of damage																														ENST00000345365.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(382-384)ctG>ctA	Direct reversal of damage	RAD51 paralog D							96.0	90.0	92.0					17																	33434103		2203	4300	6503	SO:0001819	synonymous_variant	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33434103C>T	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.384G>A	17.37:g.33434103C>T						RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000460118.2_Silent_p.L9L|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000590380.1_Intron|RAD51D_ENST00000590016.1_Silent_p.L148L|RAD51D_ENST00000394589.4_Silent_p.L128L	p.L128L	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN			5	639	-			128					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Silent	SNP	ENST00000345365.6	37	c.384G>A	CCDS11287.1																																																																																				0.547	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		82	407	0	0	0	1	0	82	407				
IGFBP2	3485	broad.mit.edu	37	2	217526595	217526595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217526595G>A	ENST00000233809.4	+	3	816	c.687G>A	c.(685-687)caG>caA	p.Q229Q	IGFBP2_ENST00000456764.1_Silent_p.Q85Q	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	229	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCTGCCAACAGGAACTGGACC	0.647																																						ENST00000233809.4																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(685-687)caG>caA		insulin-like growth factor binding protein 2, 36kDa							45.0	51.0	49.0					2																	217526595		2177	4273	6450	SO:0001819	synonymous_variant	3485				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	g.chr2:217526595G>A		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.687G>A	2.37:g.217526595G>A						IGFBP2_ENST00000456764.1_Silent_p.Q85Q	p.Q229Q	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)	3	816	+		Renal(323;0.0458)	229			Thyroglobulin type-1.		Q14619|Q9UCL3	Silent	SNP	ENST00000233809.4	37	c.687G>A	CCDS42815.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733021	0.48939	.	.	ENSG00000115457	ENST00000436812	.	.	.	4.6	0.0849	0.14439	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64296	-0.6441	5	0.87932	D	0	-4.1961	9.88	0.41227	0.2733:0.0:0.7267:0.0	.	.	.	.	K	52	.	ENSP00000400308:R52K	R	+	2	0	IGFBP2	217234840	1.000000	0.71417	0.846000	0.33378	0.969000	0.65631	5.169000	0.64984	-0.102000	0.12197	0.655000	0.94253	AGG		0.647	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		42	161	0	0	0	1	0	42	161				
PIR	8544	broad.mit.edu	37	X	15403175	15403175	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15403175T>G	ENST00000380421.3	-	10	1284	c.824A>C	c.(823-825)aAa>aCa	p.K275T	FIGF_ENST00000297904.3_5'Flank|PIR_ENST00000380420.5_Missense_Mutation_p.K275T	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	275					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AAACCCATTTTTTGCGTTTCT	0.418																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(823-825)aAa>aCa		pirin (iron-binding nuclear protein)							137.0	119.0	125.0					X																	15403175		2202	4300	6502	SO:0001583	missense	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15403175T>G	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.824A>C	X.37:g.15403175T>G	ENSP00000369786:p.Lys275Thr					PIR_ENST00000380420.5_Missense_Mutation_p.K275T	p.K275T	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN			10	1284	-	Hepatocellular(33;0.183)		275					Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	37	c.824A>C	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	T	7.107	0.575318	0.13623	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.44881	0.91;0.91	5.28	4.09	0.47781	Cupin, RmlC-type (1);Pirin, C-terminal (1);	0.302120	0.37178	N	0.002203	T	0.22205	0.0535	N	0.13140	0.3	0.29606	N	0.847304	B	0.15141	0.012	B	0.21151	0.033	T	0.07443	-1.0772	10	0.27082	T	0.32	-0.8345	5.3461	0.16010	0.0:0.0995:0.1951:0.7054	.	275	O00625	PIR_HUMAN	T	275	ENSP00000369785:K275T;ENSP00000369786:K275T	ENSP00000369785:K275T	K	-	2	0	PIR	15313096	0.943000	0.32029	0.989000	0.46669	0.372000	0.29890	0.392000	0.20801	1.871000	0.54225	0.430000	0.28490	AAA		0.418	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		20	358	0	0	0	1	0	20	358				
SYT7	9066	broad.mit.edu	37	11	61323619	61323619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61323619G>T	ENST00000263846.4	-	2	419	c.92C>A	c.(91-93)aCt>aAt	p.T31N	SYT7_ENST00000542670.1_Missense_Mutation_p.T31N|SYT7_ENST00000535826.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	31					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGACGACAGTGACGCTAAG	0.667																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(91-93)aCt>aAt		synaptotagmin VII							71.0	57.0	61.0					11																	61323619		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61323619G>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.92C>A	11.37:g.61323619G>T	ENSP00000263846:p.Thr31Asn					SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000542670.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N|SYT7_ENST00000535826.1_Missense_Mutation_p.T31N	p.T31N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			2	419	-			31					F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.92C>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494952	0.85069	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.59083	0.41;0.29;0.52;0.38;0.36;0.37;1.84	4.98	4.98	0.66077	.	0.441308	0.22038	N	0.065486	T	0.46502	0.1396	N	0.14661	0.345	0.29298	N	0.868872	D;P	0.54207	0.965;0.666	P;B	0.44811	0.461;0.13	T	0.46978	-0.9152	10	0.37606	T	0.19	.	18.2399	0.89963	0.0:0.0:1.0:0.0	.	31;31	F5GZU9;O43581	.;SYT7_HUMAN	N	31	ENSP00000263846:T31N;ENSP00000444201:T31N;ENSP00000439694:T31N;ENSP00000444568:T31N;ENSP00000444019:T31N;ENSP00000437720:T31N;ENSP00000443576:T31N	ENSP00000263846:T31N	T	-	2	0	SYT7	61080195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.544000	0.67231	2.460000	0.83146	0.591000	0.81541	ACT		0.667	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		25	143	1	0	6.07407e-21	1	6.82693e-21	25	143				
PLEC	5339	broad.mit.edu	37	8	145004326	145004326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145004326C>A	ENST00000322810.4	-	21	3178	c.3009G>T	c.(3007-3009)caG>caT	p.Q1003H	PLEC_ENST00000356346.3_Missense_Mutation_p.Q852H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q866H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q870H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q893H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1003	Globular 1.		Missing (in MD-EBS). {ECO:0000269|PubMed:8894687}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGACGGCCTCCTGGGCCTCCT	0.726																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(3007-3009)caG>caT		plectin							6.0	8.0	7.0					8																	145004326		1962	4065	6027	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145004326C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3009G>T	8.37:g.145004326C>A	ENSP00000323856:p.Gln1003His					PLEC_ENST00000357649.2_Missense_Mutation_p.Q870H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q866H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q852H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q893H	p.Q1003H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			21	3178	-			1003		Missing (in MD-EBS).	Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3009G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380272	0.24944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.99	4.12	0.48240	.	0.565461	0.15487	U	0.259768	T	0.45994	0.1370	N	0.22421	0.69	0.40742	D	0.98284	B;B;B;B;B;B;P;B	0.36392	0.253;0.253;0.253;0.164;0.253;0.253;0.551;0.253	B;B;B;B;B;B;B;B	0.28709	0.093;0.093;0.093;0.043;0.093;0.093;0.093;0.093	T	0.50516	-0.8819	10	0.72032	D	0.01	.	12.9958	0.58646	0.0:0.9202:0.0:0.0798	.	893;852;844;1003;834;866;870;866	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	866;870;866;834;1003;844;852;893;889	ENSP00000344848:Q866H;ENSP00000350277:Q870H;ENSP00000346602:Q866H;ENSP00000381756:Q834H;ENSP00000323856:Q1003H;ENSP00000347044:Q844H;ENSP00000348702:Q852H;ENSP00000388180:Q893H;ENSP00000434583:Q889H	ENSP00000323856:Q1003H	Q	-	3	2	PLEC	145076314	0.931000	0.31567	1.000000	0.80357	0.244000	0.25665	1.149000	0.31626	1.098000	0.41479	0.453000	0.30009	CAG		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		14	42	1	0	1.5842e-08	1	1.65642e-08	14	42				
MARK4	57787	broad.mit.edu	37	19	45781209	45781209	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45781209A>C	ENST00000262891.4	+	9	1146	c.815A>C	c.(814-816)aAg>aCg	p.K272T	MARK4_ENST00000300843.4_Missense_Mutation_p.K272T	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCAGAGGGAAGTACCGGGTC	0.577																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(814-816)aAg>aCg		MAP/microtubule affinity-regulating kinase 4							99.0	102.0	101.0					19																	45781209		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45781209A>C	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.815A>C	19.37:g.45781209A>C	ENSP00000262891:p.Lys272Thr					MARK4_ENST00000262891.4_Missense_Mutation_p.K272T	p.K272T	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	9	1112	+		all_neural(266;0.224)|Ovarian(192;0.231)	272			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.815A>C	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356875	0.82243	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.66638	-0.22;-0.22	4.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	N	0.11284	0.12	0.80722	D	1	P;P;P	0.40066	0.701;0.518;0.462	D;P;P	0.64410	0.925;0.825;0.732	T	0.71988	-0.4426	10	0.87932	D	0	.	11.5216	0.50553	1.0:0.0:0.0:0.0	.	138;272;272	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	T	302;272;272	ENSP00000262891:K272T;ENSP00000300843:K272T	ENSP00000262891:K272T	K	+	2	0	MARK4	50473049	1.000000	0.71417	0.967000	0.41034	0.974000	0.67602	8.993000	0.93524	1.906000	0.55180	0.379000	0.24179	AAG		0.577	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		69	322	0	0	0	1	0	69	322				
RSAD2	91543	broad.mit.edu	37	2	7027154	7027154	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7027154C>T	ENST00000382040.3	+	3	733	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RSAD2_ENST00000541728.1_Silent_p.N92N	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGAAGAACCATGTGGAAA	0.438																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(595-597)aaC>aaT		radical S-adenosyl methionine domain containing 2							113.0	105.0	107.0					2																	7027154		2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7027154C>T	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.597C>T	2.37:g.7027154C>T						RSAD2_ENST00000541728.1_Silent_p.N92N	p.N199N	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	3	733	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		199						Silent	SNP	ENST00000382040.3	37	c.597C>T	CCDS1656.1																																																																																				0.438	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		68	262	0	0	0	1	0	68	262				
SPTBN1	6711	broad.mit.edu	37	2	54753662	54753662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54753662C>T	ENST00000356805.4	+	2	388	c.107C>T	c.(106-108)tCt>tTt	p.S36F	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	36	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGAACAGCTCTGCGCGGCTT	0.537																																						ENST00000356805.4																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(106-108)tCt>tTt		spectrin, beta, non-erythrocytic 1							135.0	122.0	126.0					2																	54753662		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753662C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.107C>T	2.37:g.54753662C>T	ENSP00000349259:p.Ser36Phe					AC092839.3_ENST00000433475.1_RNA	p.S36F	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	388	+			36			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.107C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394759	0.96009	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.27402	1.67;1.67	5.77	5.77	0.91146	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57522	-0.7797	10	0.87932	D	0	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	36	Q01082	SPTB2_HUMAN	F	36	ENSP00000349259:S36F;ENSP00000374630:S36F	ENSP00000349259:S36F	S	+	2	0	SPTBN1	54607166	1.000000	0.71417	0.963000	0.40424	0.964000	0.63967	7.794000	0.85869	2.726000	0.93360	0.650000	0.86243	TCT		0.537	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			63	320	0	0	0	1	0	63	320				
AGAP1	116987	broad.mit.edu	37	2	236945321	236945321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236945321C>A	ENST00000304032.8	+	14	2342	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	AGAP1_ENST00000409538.1_Missense_Mutation_p.L800M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M|RNU7-127P_ENST00000458845.1_RNA	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	588	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCCAGATCCTGGCCAGCCT	0.612																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2398-2400)Ctg>Atg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							77.0	80.0	79.0					2																	236945321		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236945321C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1762C>A	2.37:g.236945321C>A	ENSP00000307634:p.Leu588Met					AGAP1_ENST00000304032.7_Missense_Mutation_p.L588M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M	p.L800M			Q9UPQ3	AGAP1_HUMAN			13	2894	+			588					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2398C>A	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.322237|3.322237	0.60634|0.60634	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025;ENST00000418654	T;T;T;T|.	0.18502|.	2.21;2.21;2.21;2.21|.	4.75|4.75	3.87|3.87	0.44632|0.44632	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.57533|0.57533	0.2060|0.2060	L|L	0.50333|0.50333	1.59|1.59	0.50467|0.50467	D|D	0.999879|0.999879	D;D|.	0.76494|.	0.994;0.999|.	D;D|.	0.74674|.	0.984;0.959|.	T|T	0.53542|0.53542	-0.8424|-0.8424	10|5	0.48119|.	T|.	0.1|.	.|.	8.9764|8.9764	0.35939|0.35939	0.0:0.7657:0.0:0.2343|0.0:0.7657:0.0:0.2343	.|.	535;588|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	M|H	588;535;800;427|246;140	ENSP00000307634:L588M;ENSP00000338378:L535M;ENSP00000386897:L800M;ENSP00000411824:L427M|.	ENSP00000307634:L588M|.	L|P	+|+	1|2	2|0	AGAP1|AGAP1	236610060|236610060	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.953000|0.953000	0.61014|0.61014	2.640000|2.640000	0.46579|0.46579	1.140000|1.140000	0.42260|0.42260	-0.136000|-0.136000	0.14681|0.14681	CTG|CCT		0.612	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		57	671	1	0	7.06795e-37	1	8.47427e-37	57	671				
STRADA	92335	broad.mit.edu	37	17	61781025	61781025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781025G>A	ENST00000336174.6	-	13	1342	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D|LIMD2_ENST00000578402.1_5'Flank|STRADA_ENST00000580039.1_5'Flank|STRADA_ENST00000447001.3_3'UTR|STRADA_ENST00000582137.1_3'UTR|STRADA_ENST00000392950.4_3'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	410					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCCACTGTGGTCCTGAGACT	0.562																																						ENST00000336174.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(1228-1230)gaC>gaT		STE20-related kinase adaptor alpha							71.0	66.0	67.0					17																	61781025		2203	4300	6503	SO:0001819	synonymous_variant	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61781025G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.1230C>T	17.37:g.61781025G>A						STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D|STRADA_ENST00000392950.4_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_3'UTR|STRADA_ENST00000582137.1_3'UTR	p.D410D	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN			13	1342	-			410					B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	c.1230C>T	CCDS32703.1																																																																																				0.562	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			43	218	0	0	0	1	0	43	218				
ST14	6768	broad.mit.edu	37	11	130068436	130068436	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130068436G>T	ENST00000278742.5	+	14	2022	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	535	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGTTCCAATGGGAAGTGCCTC	0.672																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1603-1605)gGg>gTg		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						53.0	57.0	56.0					11																	130068436		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130068436G>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1604G>T	11.37:g.130068436G>T	ENSP00000278742:p.Gly535Val						p.G535V	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	14	2022	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	535			LDL-receptor class A 3.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.1604G>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907464	0.52333	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.49432	0.78	4.73	4.73	0.59995	.	0.000000	0.38959	N	0.001509	T	0.79155	0.4398	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85912	0.1441	10	0.48119	T	0.1	.	17.3042	0.87190	0.0:0.0:1.0:0.0	.	535	Q9Y5Y6	ST14_HUMAN	V	535;437	ENSP00000278742:G535V	ENSP00000278742:G535V	G	+	2	0	ST14	129573646	1.000000	0.71417	0.970000	0.41538	0.169000	0.22640	4.692000	0.61746	2.158000	0.67659	0.462000	0.41574	GGG		0.672	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			9	300	1	0	0.00448238	1	0.00451339	9	300				
ZNF383	163087	broad.mit.edu	37	19	37734418	37734418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734418G>A	ENST00000589413.1	+	8	1863	c.1280G>A	c.(1279-1281)tGt>tAt	p.C427Y	ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y|ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y			Q8NA42	ZN383_HUMAN	zinc finger protein 383	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAATGAATGTGGAAAGGCC	0.378																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1279-1281)tGt>tAt		zinc finger protein 383							66.0	68.0	67.0					19																	37734418		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734418G>A	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1280G>A	19.37:g.37734418G>A	ENSP00000464871:p.Cys427Tyr					ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y|ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y	p.C427Y			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1863	+			427					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.1280G>A	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308850	0.40895	.	.	ENSG00000188283	ENST00000352998	D	0.85861	-2.04	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003980	D	0.94371	0.8190	H	0.96518	3.835	0.31323	N	0.685758	D	0.89917	1.0	D	0.97110	1.0	D	0.93643	0.6966	10	0.87932	D	0	.	13.6497	0.62304	0.0:0.0:1.0:0.0	.	427	Q8NA42	ZN383_HUMAN	Y	427	ENSP00000340132:C427Y	ENSP00000340132:C427Y	C	+	2	0	ZNF383	42426258	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	6.899000	0.75682	2.134000	0.65973	0.563000	0.77884	TGT		0.378	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		73	295	0	0	0	1	0	73	295				
HSP90AA1	3320	broad.mit.edu	37	14	102549964	102549964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102549964C>T	ENST00000216281.8	-	8	1610	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.A591T|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	469					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCACCAGAGGCAGATGTGTAG	0.388																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1771-1773)Gcc>Acc		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						111.0	108.0	109.0					14																	102549964		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549964C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1405G>A	14.37:g.102549964C>T	ENSP00000216281:p.Ala469Thr					HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.A469T	p.A591T	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			9	2052	-			469					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1771G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	N	14.36	2.511341	0.44660	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09817	2.94;2.94;2.94	4.61	4.61	0.57282	Ribosomal protein S5 domain 2-type fold (1);	0.134283	0.49305	U	0.000156	T	0.12646	0.0307	L	0.41492	1.28	0.80722	D	1	B;P;B	0.40638	0.009;0.725;0.236	B;B;B	0.40009	0.008;0.316;0.173	T	0.05784	-1.0864	10	0.41790	T	0.15	-25.0233	17.4958	0.87717	0.0:1.0:0.0:0.0	.	290;591;469	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	T	469;591;290	ENSP00000216281:A469T;ENSP00000335153:A591T;ENSP00000396189:A290T	ENSP00000216281:A469T	A	-	1	0	HSP90AA1	101619717	1.000000	0.71417	0.886000	0.34754	0.123000	0.20343	3.722000	0.54948	2.299000	0.77371	0.650000	0.86243	GCC		0.388	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		70	451	0	0	0	1	0	70	451				
LHX1	3975	broad.mit.edu	37	17	35298099	35298099	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35298099C>T	ENST00000254457.5	+	3	2001	c.590C>T	c.(589-591)gCc>gTc	p.A197V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	197					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACGCTGAAGGCCGCCTTCGCT	0.667																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(589-591)gCc>gTc		LIM homeobox 1							28.0	31.0	30.0					17																	35298099		2195	4298	6493	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35298099C>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.590C>T	17.37:g.35298099C>T	ENSP00000254457:p.Ala197Val					RP11-445F12.2_ENST00000607336.1_RNA	p.A197V	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			3	2001	+		Breast(25;0.00607)	197					Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.590C>T	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	36	5.806526	0.96967	.	.	ENSG00000132130	ENST00000254457	D	0.96522	-4.04	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	L	0.47190	1.495	0.80722	D	1	P;D	0.59767	0.952;0.986	P;D	0.63033	0.884;0.91	D	0.97090	0.9790	10	0.59425	D	0.04	.	17.9822	0.89145	0.0:1.0:0.0:0.0	.	183;197	B4DPA6;P48742	.;LHX1_HUMAN	V	197	ENSP00000254457:A197V	ENSP00000254457:A197V	A	+	2	0	LHX1	32372212	1.000000	0.71417	0.792000	0.32020	0.997000	0.91878	5.871000	0.69628	2.648000	0.89879	0.561000	0.74099	GCC		0.667	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		34	105	0	0	0	1	0	34	105				
ATP6V1C2	245973	broad.mit.edu	37	2	10912016	10912016	+	Silent	SNP	C	C	T	rs574141383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10912016C>T	ENST00000272238.4	+	7	631	c.522C>T	c.(520-522)ttC>ttT	p.F174F	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000381661.3_Silent_p.F174F	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	174					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.F174L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGAGGACTTCGTGCTGGATT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21465	0.0		0.0	False		,,,				2504	0.001				NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			2	Substitution - Missense(2)	p.F174L(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(520-522)ttC>ttT		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							192.0	177.0	182.0					2																	10912016		2203	4300	6503	SO:0001819	synonymous_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10912016C>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.522C>T	2.37:g.10912016C>T						ATP6V1C2_ENST00000272238.4_Silent_p.F174F	p.F174F	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	7	631	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		174					Q96EL8	Silent	SNP	ENST00000272238.4	37	c.522C>T	CCDS42653.1																																																																																				0.532	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		240	706	0	0	0	1	0	240	706				
KIAA0232	9778	broad.mit.edu	37	4	6864270	6864270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864270C>T	ENST00000307659.5	+	7	2616	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.R721C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	721							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAAGAAACACGTTCAGACAA	0.333																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(2161-2163)Cgt>Tgt		KIAA0232							63.0	59.0	60.0					4																	6864270		1838	4083	5921	SO:0001583	missense	9778						ATP binding	g.chr4:6864270C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2161C>T	4.37:g.6864270C>T	ENSP00000303928:p.Arg721Cys					KIAA0232_ENST00000425103.1_Missense_Mutation_p.R721C	p.R721C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2616	+			721					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.2161C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219025	0.79464	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80254	-0.1459	9	0.87932	D	0	-15.5989	19.8991	0.96978	0.0:1.0:0.0:0.0	.	721	Q92628	K0232_HUMAN	C	721	.	ENSP00000303928:R721C	R	+	1	0	KIAA0232	6915171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.446000	0.80609	2.708000	0.92522	0.655000	0.94253	CGT		0.333	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		5	202	0	0	0	1	0	5	202				
SLC12A1	6557	broad.mit.edu	37	15	48537060	48537060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48537060C>T	ENST00000558405.1	+	10	1425	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000396577.3_Nonsense_Mutation_p.R471*			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	471					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCAAGATGTCGACATGAACC	0.423																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1411-1413)Cga>Tga		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						141.0	119.0	126.0					15																	48537060		2198	4297	6495	SO:0001587	stop_gained	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48537060C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1411C>T	15.37:g.48537060C>T	ENSP00000453409:p.Arg471*					SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000558405.1_Nonsense_Mutation_p.R471*	p.R471*	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	11	1626	+		all_lung(180;0.00219)	471					A8JYA2|E9PDW4	Nonsense_Mutation	SNP	ENST00000558405.1	37	c.1411C>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889681	0.91889	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	.	.	.	5.58	3.45	0.39498	.	1.009920	0.07935	N	0.978155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.2468	0.06799	0.22:0.3429:0.3488:0.0882	.	.	.	.	X	284;471;471	.	ENSP00000370381:R471X	R	+	1	2	SLC12A1	46324352	0.000000	0.05858	0.852000	0.33557	0.672000	0.39443	0.158000	0.16422	2.642000	0.89623	0.655000	0.94253	CGA		0.423	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			30	168	0	0	0	1	0	30	168				
GFOD1	54438	broad.mit.edu	37	6	13365177	13365177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13365177C>T	ENST00000379287.3	-	2	1635	c.971G>A	c.(970-972)cGc>cAc	p.R324H	GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	324						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATCCCACGTGCGCCGGTCGTC	0.672																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(970-972)cGc>cAc		glucose-fructose oxidoreductase domain containing 1							44.0	44.0	44.0					6																	13365177		2203	4299	6502	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365177C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.971G>A	6.37:g.13365177C>T	ENSP00000368589:p.Arg324His					GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	p.R324H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1635	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	324					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.971G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427283	0.96131	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.48836	1.41;0.8	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.40739	-0.9547	10	0.23891	T	0.37	-11.6292	18.5979	0.91235	0.0:1.0:0.0:0.0	.	324	Q9NXC2	GFOD1_HUMAN	H	324;221	ENSP00000368589:R324H;ENSP00000368586:R221H	ENSP00000368586:R221H	R	-	2	0	GFOD1	13473156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.622000	0.88805	0.555000	0.69702	CGC		0.672	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		81	279	0	0	0	1	0	81	279				
UBQLN1	29979	broad.mit.edu	37	9	86293476	86293476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293476C>A	ENST00000376395.4	-	5	1273	c.750G>T	c.(748-750)gaG>gaT	p.E250D	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	250					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCCTCATCATCTCCTGCATCA	0.403																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(748-750)gaG>gaT		ubiquilin 1							346.0	357.0	354.0					9																	86293476		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293476C>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.750G>T	9.37:g.86293476C>A	ENSP00000365576:p.Glu250Asp					UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			5	1273	-			250					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.750G>T	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339463	0.81911	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80653	1.03;1.03;-1.4	5.71	3.31	0.37934	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.90977	3.165	0.51767	D	0.999933	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.986	D	0.88817	0.3296	10	0.72032	D	0.01	.	8.5668	0.33545	0.0:0.2121:0.0:0.7879	.	250;250	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	D	250;250;47	ENSP00000365576:E250D;ENSP00000257468:E250D;ENSP00000434194:E47D	ENSP00000257468:E250D	E	-	3	2	UBQLN1	85483296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.632000	0.37102	0.414000	0.25790	-0.238000	0.12139	GAG		0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		317	1659	1	0	6.28038e-61	1	7.90407e-61	317	1659				
ZNF419	79744	broad.mit.edu	37	19	58004751	58004751	+	Missense_Mutation	SNP	G	G	A	rs201631255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004751G>A	ENST00000221735.7	+	5	1012	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	ZNF419_ENST00000426954.2_Missense_Mutation_p.E264K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.E263K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E264K|ZNF419_ENST00000424930.2_Missense_Mutation_p.E277K|ZNF419_ENST00000415379.2_Missense_Mutation_p.E230K|ZNF419_ENST00000347466.6_Missense_Mutation_p.E244K			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCACCTCATTGAACACCAGAG	0.413																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(829-831)Gaa>Aaa		zinc finger protein 419							89.0	90.0	90.0					19																	58004751		2203	4300	6503	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004751G>A	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.826G>A	19.37:g.58004751G>A	ENSP00000221735:p.Glu276Lys					ZNF419_ENST00000426954.2_Missense_Mutation_p.E264K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.E230K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E264K|ZNF419_ENST00000347466.6_Missense_Mutation_p.E244K|ZNF419_ENST00000221735.7_Missense_Mutation_p.E276K|ZNF419_ENST00000442920.2_Missense_Mutation_p.E263K	p.E277K	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1058	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	276					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.829G>A	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	7.686	0.690053	0.15039	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000427558;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;3.12;2.37;2.37	2.42	-4.83	0.03161	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.05050	-0.12	0.09310	N	1	B;B;B;B;B;B;B	0.27732	0.006;0.082;0.187;0.082;0.006;0.127;0.006	B;B;B;B;B;B;B	0.24006	0.001;0.05;0.046;0.031;0.002;0.029;0.002	T	0.37407	-0.9707	9	0.07482	T	0.82	.	1.9963	0.03457	0.4678:0.1655:0.253:0.1137	.	230;230;263;264;277;244;276	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	K	251;277;264;264;147;263;277;244;230;276	ENSP00000388864:E277K;ENSP00000390916:E264K;ENSP00000346136:E264K;ENSP00000414709:E263K;ENSP00000299860:E244K;ENSP00000392129:E230K;ENSP00000221735:E276K	ENSP00000221735:E276K	E	+	1	0	ZNF419	62696563	0.000000	0.05858	0.000000	0.03702	0.394000	0.30568	-4.423000	0.00236	-1.092000	0.03062	0.195000	0.17529	GAA		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		71	402	0	0	0	1	0	71	402				
SCN5A	6331	broad.mit.edu	37	3	38603958	38603958	+	Missense_Mutation	SNP	G	G	A	rs199473603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38603958G>A	ENST00000333535.4	-	22	4060	c.3911C>T	c.(3910-3912)aCg>aTg	p.T1304M	SCN5A_ENST00000413689.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1304			T -> M (in LQT3). {ECO:0000269|PubMed:10508990}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCACGCAGCGTCCGCAGTGA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		21383	0.0		0.001	False		,,,				2504	0.0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM992663	SCN5A	M		c.(3910-3912)aCg>aTg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4175		0,1,2087	41.0	44.0	43.0		3908,3911,3911,3908,3749,3911	4.0	0.9	3		43	4,8464		0,4,4230	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	81,81,81,81,81,81	0,5,6317	AA,AG,GG		0.0472,0.0239,0.0395	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1303/2016,1304/2017,1304/1999,1303/1984,1250/1963,1304/2017	38603958	5,12639	2088	4234	6322	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38603958G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3911C>T	3.37:g.38603958G>A	ENSP00000328968:p.Thr1304Met					SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1304M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M	p.T1304M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	22	4104	-	Medulloblastoma(35;0.163)		1304		T -> M (in LQT3).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3911C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001180	0.54254	2.39E-4	4.72E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.04	4.04	0.47022	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.94503	3.545	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;0.988	D	0.98908	1.0779	10	0.87932	D	0	.	16.4146	0.83729	0.0:0.0:1.0:0.0	.	1250;1303;1304;1304;1304;1303;1304	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1304;1303;1304;1250;1303;1304;1304;1303;1250;1250	ENSP00000398962:T1304M;ENSP00000398266:T1303M;ENSP00000410257:T1304M;ENSP00000388797:T1250M;ENSP00000397915:T1303M;ENSP00000416634:T1304M;ENSP00000328968:T1304M;ENSP00000399524:T1303M;ENSP00000403355:T1250M;ENSP00000413996:T1250M	ENSP00000328968:T1304M	T	-	2	0	SCN5A	38578962	1.000000	0.71417	0.890000	0.34922	0.068000	0.16541	9.657000	0.98554	2.105000	0.64084	0.655000	0.94253	ACG		0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		17	108	0	0	0	1	0	17	108				
SCYL1	57410	broad.mit.edu	37	11	65302805	65302805	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65302805C>T	ENST00000270176.5	+	10	1415	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	SCYL1_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C|SCYL1_ENST00000524944.1_Silent_p.C446C|SCYL1_ENST00000527009.1_Silent_p.C303C	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	446					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCATCCGCTGCAACACCACAG	0.602																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1336-1338)tgC>tgT		SCY1-like 1 (S. cerevisiae)							117.0	124.0	121.0					11																	65302805		2160	4253	6413	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65302805C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1338C>T	11.37:g.65302805C>T						SCYL1_ENST00000527630.1_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000527009.1_Silent_p.C303C|SCYL1_ENST00000270176.5_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C	p.C446C			Q96KG9	NTKL_HUMAN			10	1371	+			446					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1338C>T	CCDS41672.1																																																																																				0.602	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		77	509	0	0	0	1	0	77	509				
UBE2J2	118424	broad.mit.edu	37	1	1191433	1191433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1191433C>T	ENST00000349431.6	-	6	706	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	UBE2J2_ENST00000347370.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I|UBE2J2_ENST00000491779.1_5'UTR	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	163					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		ACCTCCACGACTTCAGGAAAT	0.418																																						ENST00000347370.2																			0				cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(331-333)Gtc>Atc		ubiquitin-conjugating enzyme E2, J2							117.0	125.0	122.0					1																	1191433		2203	4300	6503	SO:0001583	missense	118424				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1191433C>T	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.487G>A	1.37:g.1191433C>T	ENSP00000305826:p.Val163Ile					UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000349431.6_Missense_Mutation_p.V163I	p.V111I	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	6	804	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	163					A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	37	c.331G>A	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	4.110	0.018605	0.07959	.	.	ENSG00000160087	ENST00000347370;ENST00000349431;ENST00000339385;ENST00000348298;ENST00000400929;ENST00000360466;ENST00000400930;ENST00000435198	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.58	5.58	0.84498	Ubiquitin-conjugating enzyme/RWD-like (2);	0.056483	0.64402	D	0.000001	T	0.29256	0.0728	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.09377	0.0;0.001;0.0;0.004	T	0.12268	-1.0554	10	0.08837	T	0.75	-2.9587	18.5607	0.91098	0.0:1.0:0.0:0.0	.	111;179;163;196	A6NGS0;A8MYC7;Q8N2K1;B1AME9	.;.;UB2J2_HUMAN;.	I	111;163;128;111;111;163;179;163	ENSP00000344857:V111I;ENSP00000305826:V163I;ENSP00000340197:V128I;ENSP00000342541:V111I;ENSP00000383718:V111I;ENSP00000353653:V163I;ENSP00000383719:V179I;ENSP00000393301:V163I	ENSP00000340197:V128I	V	-	1	0	UBE2J2	1181296	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.091000	0.57700	2.638000	0.89438	0.655000	0.94253	GTC		0.418	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		10	583	0	0	0	1	0	10	583				
NYNRIN	57523	broad.mit.edu	37	14	24884802	24884802	+	Missense_Mutation	SNP	C	C	T	rs374730919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884802C>T	ENST00000382554.3	+	9	4165	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1283					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGGGAGAACCGCCTGCTCAC	0.612																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3847-3849)Cgc>Tgc		NYN domain and retroviral integrase containing		C	CYS/ARG	0,3992		0,0,1996	61.0	66.0	64.0		3847	4.0	0.8	14		64	1,8307		0,1,4153	no	missense	NYNRIN	NM_025081.2	180	0,1,6149	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1283/1899	24884802	1,12299	1996	4154	6150	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884802C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3847C>T	14.37:g.24884802C>T	ENSP00000371994:p.Arg1283Cys						p.R1283C	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	4165	+			1283					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3847C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214810	0.22373	0.0	1.2E-4	ENSG00000205978	ENST00000382554	T	0.10477	2.87	4.93	4.01	0.46588	.	.	.	.	.	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	B	0.41299	0.353	T	0.26087	-1.0113	9	0.48119	T	0.1	.	13.0809	0.59114	0.0:0.8251:0.1749:0.0	.	1283	Q9P2P1	NYNRI_HUMAN	C	1283	ENSP00000371994:R1283C	ENSP00000371994:R1283C	R	+	1	0	NYNRIN	23954642	0.996000	0.38824	0.775000	0.31657	0.428000	0.31595	3.095000	0.50235	2.551000	0.86045	0.655000	0.94253	CGC		0.612	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			106	474	0	0	0	1	0	106	474				
ZNF382	84911	broad.mit.edu	37	19	37118250	37118250	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118250G>T	ENST00000292928.2	+	5	1564	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF382_ENST00000423582.1_Missense_Mutation_p.R435I|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.R483I|ZNF382_ENST00000439428.1_Missense_Mutation_p.R483I	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	484	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCATCACAGAATACATACA	0.463																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1447-1449)aGa>aTa		zinc finger protein 382							59.0	62.0	61.0					19																	37118250		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118250G>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1451G>T	19.37:g.37118250G>T	ENSP00000292928:p.Arg484Ile					ZNF382_ENST00000423582.1_Missense_Mutation_p.R435I|ZNF382_ENST00000292928.2_Missense_Mutation_p.R484I|ZNF382_ENST00000439428.1_Missense_Mutation_p.R483I	p.R483I			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2943	+	Esophageal squamous(110;0.198)		484			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1448G>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275734	0.59649	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000297	T	0.46833	0.1413	M	0.88031	2.925	0.45025	D	0.998047	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.70016	0.967;0.967;0.927	T	0.56547	-0.7961	10	0.66056	D	0.02	.	14.5487	0.68050	0.0:0.0:1.0:0.0	.	483;483;484	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	435;484;483;483	ENSP00000389722:R435I;ENSP00000292928:R484I;ENSP00000407593:R483I;ENSP00000410113:R483I	ENSP00000292928:R484I	R	+	2	0	ZNF382	41810090	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.470000	0.22084	2.375000	0.81037	0.591000	0.81541	AGA		0.463	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		43	206	1	0	6.2361e-21	1	7.00342e-21	43	206				
UBR4	23352	broad.mit.edu	37	1	19428113	19428113	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19428113G>T	ENST00000375254.3	-	88	12951	c.12924C>A	c.(12922-12924)gcC>gcA	p.A4308A	UBR4_ENST00000375224.1_Silent_p.A15A|UBR4_ENST00000467272.2_5'Flank|UBR4_ENST00000543981.1_5'UTR|UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000375267.2_Silent_p.A4308A|UBR4_ENST00000429347.2_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4308					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCATGAAGGCCTTGGTTT	0.493																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(12922-12924)gcC>gcA		ubiquitin protein ligase E3 component n-recognin 4							123.0	113.0	116.0					1																	19428113		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19428113G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12924C>A	1.37:g.19428113G>T						UBR4_ENST00000375224.1_Silent_p.A15A|UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000375254.3_Silent_p.A4308A|UBR4_ENST00000543981.1_5'UTR	p.A4308A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	88	12927	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4308					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.12924C>A	CCDS189.1																																																																																				0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		9	507	1	0	0.000442599	1	0.000448314	9	507				
AASDH	132949	broad.mit.edu	37	4	57215710	57215710	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57215710C>G	ENST00000205214.6	-	11	2387	c.2207G>C	c.(2206-2208)tGt>tCt	p.C736S	AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000513376.1_Missense_Mutation_p.C636S|AASDH_ENST00000602986.1_Missense_Mutation_p.C583S|AASDH_ENST00000451613.1_Missense_Mutation_p.C736S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	736					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTGCAACACAGGATGGATC	0.428																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(2206-2208)tGt>tCt		aminoadipate-semialdehyde dehydrogenase							107.0	107.0	107.0					4																	57215710		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215710C>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2207G>C	4.37:g.57215710C>G	ENSP00000205214:p.Cys736Ser					AASDH_ENST00000513376.1_Missense_Mutation_p.C636S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S|AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000451613.1_Missense_Mutation_p.C736S|AASDH_ENST00000602986.1_Missense_Mutation_p.C583S	p.C736S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			11	2387	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	736					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2207G>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	0.620	-0.821413	0.02755	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.61742	0.08;0.22;2.4;0.66;0.67	4.91	2.05	0.26809	.	0.754197	0.12944	N	0.426341	T	0.44201	0.1282	L	0.46157	1.445	0.20196	N	0.999926	B;B;B;B	0.20261	0.043;0.003;0.006;0.001	B;B;B;B	0.17722	0.019;0.004;0.009;0.001	T	0.26849	-1.0091	10	0.18276	T	0.48	-3.9224	5.9473	0.19225	0.116:0.5845:0.2189:0.0806	.	583;736;736;736	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	S	736;636;251;736;583;736	ENSP00000205214:C736S;ENSP00000423760:C636S;ENSP00000392158:C251S;ENSP00000409656:C736S;ENSP00000421171:C736S	ENSP00000205214:C736S	C	-	2	0	AASDH	56910467	0.000000	0.05858	0.068000	0.19968	0.035000	0.12851	-0.454000	0.06770	0.637000	0.30526	-0.284000	0.09977	TGT		0.428	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		43	558	0	0	0	1	0	43	558				
SLAMF6	114836	broad.mit.edu	37	1	160466068	160466068	+	Nonsense_Mutation	SNP	C	C	T	rs370941814		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160466068C>T	ENST00000368057.3	-	2	225	c.165G>A	c.(163-165)tgG>tgA	p.W55*	SLAMF6_ENST00000368059.3_Nonsense_Mutation_p.W55*|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	55	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CATTGAAAAGCCAAGTGATGA	0.463																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(163-165)tgG>tgA		SLAM family member 6							252.0	234.0	240.0					1																	160466068		2203	4300	6503	SO:0001587	stop_gained	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466068C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.165G>A	1.37:g.160466068C>T	ENSP00000357036:p.Trp55*					SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.W55*	p.W55*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	234	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		55					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Nonsense_Mutation	SNP	ENST00000368057.3	37	c.165G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475593	0.63737	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.98	13.561	0.61788	0.0:1.0:0.0:0.0	.	.	.	.	X	55	.	ENSP00000357036:W55X	W	-	3	0	SLAMF6	158732692	0.948000	0.32251	0.163000	0.22734	0.041000	0.13682	3.605000	0.54088	2.577000	0.86979	0.655000	0.94253	TGG		0.463	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		17	1210	0	0	0	1	0	17	1210				
PSME4	23198	broad.mit.edu	37	2	54127092	54127092	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54127092G>A	ENST00000404125.1	-	29	3403	c.3348C>T	c.(3346-3348)aaC>aaT	p.N1116N	PSME4_ENST00000421748.2_Silent_p.N260N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCAATATCTGGTTGATAGAGG	0.348																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(3346-3348)aaC>aaT		proteasome (prosome, macropain) activator subunit 4							182.0	183.0	183.0					2																	54127092		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54127092G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3348C>T	2.37:g.54127092G>A						PSME4_ENST00000421748.2_Silent_p.N260N	p.N1116N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		29	3403	-			1116					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.3348C>T	CCDS33197.2																																																																																				0.348	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		121	616	0	0	0	1	0	121	616				
C5AR2	27202	broad.mit.edu	37	19	47844125	47844125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47844125C>T	ENST00000595464.1	+	2	287	c.69C>T	c.(67-69)tgC>tgT	p.C23C	C5AR2_ENST00000600626.1_Silent_p.C23C|C5AR2_ENST00000257267.2_Silent_p.C23C	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	23					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										CTGTGGACTGCCTGGATGGCG	0.647																																						ENST00000595464.1																			0											c.(67-69)tgC>tgT		complement component 5a receptor 2							61.0	63.0	62.0					19																	47844125		2203	4300	6503	SO:0001819	synonymous_variant	27202							g.chr19:47844125C>T	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.69C>T	19.37:g.47844125C>T						C5AR2_ENST00000600626.1_Silent_p.C23C|C5AR2_ENST00000257267.2_Silent_p.C23C	p.C23C	NM_001271749.1	NP_001258678.1					2	287	+								B2RA09	Silent	SNP	ENST00000595464.1	37	c.69C>T	CCDS12699.1																																																																																				0.647	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		36	598	0	0	0	1	0	36	598				
COL19A1	1310	broad.mit.edu	37	6	70608839	70608839	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70608839G>A	ENST00000322773.4	+	3	193		c.e3-1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTTTAAATAGAAGAGTCATG	0.308																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.e3-1		collagen, type XIX, alpha 1							66.0	69.0	68.0					6																	70608839		2203	4298	6501	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70608839G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.92-1G>A	6.37:g.70608839G>A								NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			3	193	+								Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Splice_Site	SNP	ENST00000322773.4	37		CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263867	0.23136	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1338	0.72545	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70665560	0.997000	0.39634	0.935000	0.37517	0.032000	0.12392	2.586000	0.46119	2.721000	0.93114	0.650000	0.86243	.		0.308	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Intron	39	184	0	0	0	1	0	39	184				
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650531G>A	ENST00000319004.5	-	2	870	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V|GEMIN4_ENST00000437269.1_Intron	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(718-720)gCg>gTg		gem (nuclear organelle) associated protein 4							87.0	95.0	92.0					17																	650531		2176	4267	6443	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650531G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.752C>T	17.37:g.650531G>A	ENSP00000321706:p.Ala251Val					GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V	p.A240V			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2060	-		Myeloproliferative disorder(207;0.204)	251					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.719C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG		0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		117	507	0	0	0	1	0	117	507				
B3GALT4	8705	broad.mit.edu	37	6	33245950	33245950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245950C>T	ENST00000451237.1	+	1	1034	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	252					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGAGCAGTGGCCTCACACCTG	0.657																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(754-756)Cct>Tct		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							47.0	51.0	50.0					6																	33245950		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245950C>T	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.754C>T	6.37:g.33245950C>T	ENSP00000390784:p.Pro252Ser						p.P252S	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1034	+			252						Missense_Mutation	SNP	ENST00000451237.1	37	c.754C>T	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229448	0.58777	.	.	ENSG00000235863	ENST00000451237	T	0.55234	0.53	4.49	4.49	0.54785	.	0.155147	0.42548	D	0.000681	T	0.39172	0.1068	L	0.58969	1.84	0.37649	D	0.922334	P	0.47677	0.899	P	0.45998	0.5	T	0.45220	-0.9276	10	0.49607	T	0.09	.	8.3233	0.32142	0.0:0.8953:0.0:0.1047	.	252	O96024	B3GT4_HUMAN	S	252	ENSP00000390784:P252S	ENSP00000390784:P252S	P	+	1	0	B3GALT4	33353928	0.998000	0.40836	0.998000	0.56505	0.918000	0.54935	2.563000	0.45922	2.334000	0.79466	0.643000	0.83706	CCT		0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			96	345	0	0	0	1	0	96	345				
ZNF558	148156	broad.mit.edu	37	19	8931980	8931980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8931980G>A	ENST00000601372.1	-	7	834	c.123C>T	c.(121-123)ggC>ggT	p.G41G	ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000599938.1_5'Flank|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_Silent_p.G41G			Q96NG5	ZN558_HUMAN	zinc finger protein 558	41					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AGGTTACCAAGCCCTAAAGCA	0.587																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(121-123)ggC>ggT		zinc finger protein 558							154.0	136.0	142.0					19																	8931980		2203	4300	6503	SO:0001819	synonymous_variant	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8931980G>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.123C>T	19.37:g.8931980G>A						ZNF558_ENST00000301475.1_Silent_p.G41G|ZNF558_ENST00000444186.2_5'UTR	p.G41G			Q96NG5	ZN558_HUMAN			7	834	-			41					A8K5F0|B7Z798	Silent	SNP	ENST00000601372.1	37	c.123C>T	CCDS12208.1																																																																																				0.587	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		100	370	0	0	0	1	0	100	370				
LRP1	4035	broad.mit.edu	37	12	57588276	57588276	+	Silent	SNP	C	C	T	rs545868364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57588276C>T	ENST00000243077.3	+	49	8524	c.8058C>T	c.(8056-8058)cgC>cgT	p.R2686R	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2686	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGATGAGCGCGACTGCCCAG	0.677																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8056-8058)cgC>cgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						85.0	85.0	85.0					12																	57588276		2203	4299	6502	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588276C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8058C>T	12.37:g.57588276C>T							p.R2686R	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	49	8524	+			2686			LDL-receptor class A 14.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.8058C>T	CCDS8932.1																																																																																				0.677	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		82	851	0	0	0	1	0	82	851				
MYPOP	339344	broad.mit.edu	37	19	46404623	46404623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46404623G>A	ENST00000322217.5	-	2	495	c.409C>T	c.(409-411)Cct>Tct	p.P137S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	137	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGGGCCGCAGGGGGCTCCTCC	0.711																																						ENST00000322217.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(409-411)Cct>Tct		Myb-related transcription factor, partner of profilin							4.0	6.0	5.0					19																	46404623		1949	3842	5791	SO:0001583	missense	339344					nucleus	DNA binding	g.chr19:46404623G>A	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.409C>T	19.37:g.46404623G>A	ENSP00000325402:p.Pro137Ser						p.P137S	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			2	495	-			137			Pro-rich.			Missense_Mutation	SNP	ENST00000322217.5	37	c.409C>T	CCDS33055.1	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917012	0.17907	.	.	ENSG00000176182	ENST00000322217	T	0.42513	0.97	4.58	-0.437	0.12272	.	0.790677	0.10333	N	0.687286	T	0.19886	0.0478	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.28554	-1.0040	10	0.07325	T	0.83	0.0021	4.0573	0.09823	0.3018:0.1732:0.5251:0.0	.	137	Q86VE0	MYPOP_HUMAN	S	137	ENSP00000325402:P137S	ENSP00000325402:P137S	P	-	1	0	MYPOP	51096463	0.002000	0.14202	0.441000	0.26858	0.933000	0.57130	0.225000	0.17757	0.060000	0.16281	0.462000	0.41574	CCT		0.711	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		10	29	0	0	0	1	0	10	29				
PRRC2B	84726	broad.mit.edu	37	9	134366949	134366949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134366949C>T	ENST00000357304.4	+	28	6418	c.6363C>T	c.(6361-6363)gtC>gtT	p.V2121V	PRRC2B_ENST00000465931.1_3'UTR|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000405995.1_Silent_p.V1427V|PRRC2B_ENST00000458550.1_Silent_p.V1427V|PRRC2B_ENST00000372249.1_Silent_p.V218V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2121							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCCGCCAGTCCTGAACACCA	0.622																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(6361-6363)gtC>gtT		proline-rich coiled-coil 2B							12.0	15.0	14.0					9																	134366949		1876	4076	5952	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134366949C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6363C>T	9.37:g.134366949C>T						PRRC2B_ENST00000405995.1_Silent_p.V1427V|PRRC2B_ENST00000458550.1_Silent_p.V1427V|PRRC2B_ENST00000372249.1_Silent_p.V218V|PRRC2B_ENST00000465931.1_3'UTR	p.V2121V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			28	6418	+			2121					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.6363C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	9.707	1.155979	0.21454	.	.	ENSG00000130723	ENST00000320547	.	.	.	5.17	4.21	0.49690	.	.	.	.	.	T	0.46367	0.1389	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45542	-0.9254	4	.	.	.	-32.1241	3.1442	0.06466	0.1838:0.5418:0.1774:0.097	.	.	.	.	S	128	.	.	P	+	1	0	PRRC2B	133356770	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.842000	0.27627	2.410000	0.81850	0.555000	0.69702	CCT		0.622	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	119	0	0	0	1	0	18	119				
COL5A1	1289	broad.mit.edu	37	9	137715277	137715277	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137715277A>G	ENST00000371817.3	+	61	5074	c.4660A>G	c.(4660-4662)Aag>Gag	p.K1554E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1554	Triple-helical region.			K -> R (in Ref. 1; BAA14323). {ECO:0000305}.	axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AACTGGCCCGAAGGGTGAGGC	0.597																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4660-4662)Aag>Gag		collagen, type V, alpha 1							99.0	116.0	110.0					9																	137715277		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137715277A>G	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4660A>G	9.37:g.137715277A>G	ENSP00000360882:p.Lys1554Glu						p.K1554E	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	61	5074	+		Myeloproliferative disorder(178;0.0341)	1554	K -> R (in Ref. 1; BAA14323).		Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4660A>G	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112518	0.77210	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.94138	-3.36	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	D	0.94238	0.8150	L	0.33710	1.025	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.94402	0.7624	10	0.48119	T	0.1	.	14.9462	0.71032	1.0:0.0:0.0:0.0	.	1554	P20908	CO5A1_HUMAN	E	1554;91	ENSP00000360882:K1554E	ENSP00000347458:K91E	K	+	1	0	COL5A1	136855098	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	9.247000	0.95444	1.934000	0.56057	0.523000	0.50628	AAG		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		123	615	0	0	0	1	0	123	615				
DCAF12L2	340578	broad.mit.edu	37	X	125299102	125299102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299102G>A	ENST00000360028.2	-	1	832	c.806C>T	c.(805-807)gCc>gTc	p.A269V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A269V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTGAAGGCCAGGGCCCG	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(805-807)gCc>gTc		DDB1 and CUL4 associated factor 12-like 2							44.0	48.0	47.0					X																	125299102		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299102G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.806C>T	X.37:g.125299102G>A	ENSP00000353128:p.Ala269Val					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A269V	p.A269V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	886	-			269					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.806C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666061	0.67700	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66995	-0.24;-0.24	3.72	2.81	0.32909	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36134	N	0.002769	T	0.76026	0.3930	M	0.66939	2.045	0.35993	D	0.836822	D	0.89917	1.0	D	0.83275	0.996	T	0.78768	-0.2075	10	0.51188	T	0.08	.	7.8955	0.29704	0.0:0.2492:0.7508:0.0	.	269	Q5VW00	DC122_HUMAN	V	269	ENSP00000441489:A269V;ENSP00000353128:A269V	ENSP00000353128:A269V	A	-	2	0	DCAF12L2	125126783	1.000000	0.71417	0.930000	0.37139	0.970000	0.65996	8.043000	0.89432	0.876000	0.35872	0.544000	0.68410	GCC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		79	286	0	0	0	1	0	79	286				
TEKT2	27285	broad.mit.edu	37	1	36553677	36553677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36553677C>T	ENST00000207457.3	+	10	1310	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	395					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACACACGGCGCAAGCTGAC	0.607																																						ENST00000207457.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.(1183-1185)Cgc>Tgc		tektin 2 (testicular)							49.0	37.0	41.0					1																	36553677		2202	4300	6502	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36553677C>T	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1183C>T	1.37:g.36553677C>T	ENSP00000207457:p.Arg395Cys						p.R395C	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN			10	1310	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	395					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.1183C>T	CCDS401.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376836	0.42105	.	.	ENSG00000092850	ENST00000207457	T	0.02737	4.18	4.95	4.95	0.65309	.	0.356751	0.28964	N	0.013579	T	0.06600	0.0169	M	0.77103	2.36	0.54753	D	0.999989	B	0.16802	0.019	B	0.17722	0.019	T	0.04467	-1.0949	10	0.62326	D	0.03	.	13.8828	0.63691	0.1531:0.8469:0.0:0.0	.	395	Q9UIF3	TEKT2_HUMAN	C	395	ENSP00000207457:R395C	ENSP00000207457:R395C	R	+	1	0	TEKT2	36326264	0.571000	0.26659	0.820000	0.32676	0.669000	0.39330	0.973000	0.29422	2.266000	0.75297	0.462000	0.41574	CGC		0.607	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		26	110	0	0	0	1	0	26	110				
GTPBP3	84705	broad.mit.edu	37	19	17452019	17452019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17452019C>T	ENST00000324894.8	+	8	1209	c.1141C>T	c.(1141-1143)Ccg>Tcg	p.P381S	GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	381	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGCTGTCCCCGGAGGGCCC	0.687																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1141-1143)Ccg>Tcg		GTP binding protein 3 (mitochondrial)							34.0	34.0	34.0					19																	17452019		2203	4300	6503	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17452019C>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1141C>T	19.37:g.17452019C>T	ENSP00000313818:p.Pro381Ser					GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S	p.P381S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			8	1209	+			381					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.1141C>T	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093545	0.20471	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.13420	2.59;2.59;2.59	5.31	-10.6	0.00265	.	1.867520	0.02671	N	0.108547	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.29150	-1.0021	10	0.40728	T	0.16	1.6133	1.9569	0.03378	0.1559:0.2459:0.3338:0.2643	.	403;381;360;413	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	403;381;413	ENSP00000354598:P403S;ENSP00000313818:P381S;ENSP00000351644:P413S	ENSP00000313818:P381S	P	+	1	0	GTPBP3	17313019	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-3.115000	0.00598	-1.760000	0.01312	-1.370000	0.01191	CCG		0.687	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		9	172	0	0	0	1	0	9	172				
PTGS1	5742	broad.mit.edu	37	9	125148839	125148839	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125148839G>A	ENST00000362012.2	+	9	1129	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	375					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TACCGCAACCGCATTGCCATG	0.537																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1123-1125)cGc>cAc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						220.0	207.0	211.0					9																	125148839		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125148839G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1124G>A	9.37:g.125148839G>A	ENSP00000354612:p.Arg375His					PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|AL162424.1_ENST00000600713.1_Intron	p.R375H	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			9	1129	+			375					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1124G>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361091	0.82353	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.36	3.45	0.39498	.	0.048924	0.85682	D	0.000000	T	0.77818	0.4187	M	0.92555	3.32	0.80722	D	1	P;P;P	0.50710	0.772;0.938;0.855	P;P;P	0.49683	0.458;0.619;0.505	T	0.82285	-0.0533	10	0.87932	D	0	-22.6171	10.3217	0.43769	0.0749:0.1341:0.7911:0.0	.	350;375;375	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	350;375;375;266	ENSP00000437709:R350H;ENSP00000354612:R375H;ENSP00000223423:R375H;ENSP00000362802:R266H	ENSP00000223423:R375H	R	+	2	0	PTGS1	124188660	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.708000	0.84633	1.217000	0.43442	0.563000	0.77884	CGC		0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			39	984	0	0	0	1	0	39	984				
ZNF385D	79750	broad.mit.edu	37	3	21462771	21462771	+	Missense_Mutation	SNP	G	G	A	rs373837350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462771G>A	ENST00000281523.2	-	8	1641	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	375						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCCGCAGGAGTGCCGGAGGA	0.547																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1123-1125)Ctc>Ttc		zinc finger protein 385D							55.0	53.0	53.0					3																	21462771		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462771G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1123C>T	3.37:g.21462771G>A	ENSP00000281523:p.Leu375Phe						p.L375F	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1641	-			375						Missense_Mutation	SNP	ENST00000281523.2	37	c.1123C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741734	0.49151	.	.	ENSG00000151789	ENST00000281523	T	0.51574	0.7	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.42744	1.35	0.53005	D	0.999964	B	0.28636	0.218	B	0.23150	0.044	T	0.34403	-0.9830	10	0.59425	D	0.04	-29.8816	20.3747	0.98911	0.0:0.0:1.0:0.0	.	375	Q9H6B1	Z385D_HUMAN	F	375	ENSP00000281523:L375F	ENSP00000281523:L375F	L	-	1	0	ZNF385D	21437775	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	4.681000	0.61663	2.819000	0.97034	0.557000	0.71058	CTC		0.547	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		22	149	0	0	0	1	0	22	149				
ORC2	4999	broad.mit.edu	37	2	201822814	201822814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201822814C>T	ENST00000234296.2	-	3	282	c.33G>A	c.(31-33)atG>atA	p.M11I	ORC2_ENST00000467605.1_Intron	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	11					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAACCTCCAGCATCTTGTCTT	0.338																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(31-33)atG>atA		origin recognition complex, subunit 2							180.0	155.0	163.0					2																	201822814		2203	4299	6502	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201822814C>T		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.33G>A	2.37:g.201822814C>T	ENSP00000234296:p.Met11Ile					ORC2_ENST00000467605.1_Intron	p.M11I	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			3	282	-			11					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.33G>A	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618154	0.46736	.	.	ENSG00000115942	ENST00000234296;ENST00000410039;ENST00000457595	T;T	0.40476	1.63;1.03	6.01	5.13	0.70059	.	0.448742	0.27008	N	0.021384	T	0.27629	0.0679	N	0.19112	0.55	0.22521	N	0.999026	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12656	-1.0539	10	0.16420	T	0.52	-2.8989	13.347	0.60580	0.0:0.8421:0.1579:0.0	.	11;11	B4DYU9;Q13416	.;ORC2_HUMAN	I	11	ENSP00000234296:M11I;ENSP00000386390:M11I	ENSP00000234296:M11I	M	-	3	0	ORC2	201531059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.295000	0.33377	1.533000	0.49186	0.655000	0.94253	ATG		0.338	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		130	377	0	0	0	1	0	130	377				
ACTN3	89	broad.mit.edu	37	11	66326753	66326753	+	lincRNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66326753A>G	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CGGCTTTGCTACAGGAGGTGC	0.682																																						ENST00000504911.1																			0																				38.0	44.0	42.0					11																	66326753		2189	4288	6477			0							g.chr11:66326753A>G																													11.37:g.66326753A>G						ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA								0	220	-									RNA	SNP	ENST00000504911.1	37																																																																																						0.682	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			7	322	0	0	0	1	0	7	322				
CFAP97	57587	broad.mit.edu	37	4	186111392	186111392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111392G>A	ENST00000458385.2	-	2	1078	c.959C>T	c.(958-960)tCc>tTc	p.S320F	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		320										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGACTTTGAGGAGACATCAGG	0.353																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(958-960)tCc>tTc		KIAA1430							83.0	74.0	76.0					4																	186111392		1848	4099	5947	SO:0001583	missense	57587							g.chr4:186111392G>A																												ENST00000458385.2:c.959C>T	4.37:g.186111392G>A	ENSP00000409964:p.Ser320Phe					KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	p.S320F	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	1078	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	320					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.959C>T	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.840766	0.00573	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.42513	1.56;0.97;0.97	4.96	0.873	0.19118	.	0.644381	0.14490	N	0.316429	T	0.21761	0.0524	N	0.22421	0.69	0.09310	N	1	P;B	0.39157	0.662;0.159	B;B	0.33196	0.159;0.024	T	0.12091	-1.0561	10	0.59425	D	0.04	2.7903	3.7265	0.08477	0.1869:0.0:0.477:0.3361	.	320;320	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	F	320	ENSP00000409964:S320F;ENSP00000423312:S320F;ENSP00000296775:S320F	ENSP00000296775:S320F	S	-	2	0	KIAA1430	186348386	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.391000	0.20784	0.320000	0.23234	0.609000	0.83330	TCC		0.353	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			31	86	0	0	0	1	0	31	86				
PRRT3	285368	broad.mit.edu	37	3	9991052	9991052	+	Missense_Mutation	SNP	G	G	A	rs376844783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9991052G>A	ENST00000412055.1	-	2	877	c.748C>T	c.(748-750)Cct>Tct	p.P250S	PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	250	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCAACATCAGGGGCTGCTGGA	0.597																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(748-750)Cct>Tct		proline-rich transmembrane protein 3		G	SER/PRO	0,4300		0,0,2150	44.0	52.0	49.0		748	0.7	0.0	3		49	1,8559		0,1,4279	no	missense	PRRT3	NM_207351.3	74	0,1,6429	AA,AG,GG		0.0117,0.0,0.0078	benign	250/982	9991052	1,12859	2150	4280	6430	SO:0001583	missense	285368					integral to membrane		g.chr3:9991052G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.748C>T	3.37:g.9991052G>A	ENSP00000392511:p.Pro250Ser					PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S	p.P250S	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	877	-			250			Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.748C>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	0.466	-0.886714	0.02511	0.0	1.17E-4	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.21734	2.35;1.99	3.52	0.734	0.18294	.	0.471138	0.18199	N	0.148572	T	0.10380	0.0254	N	0.16656	0.425	0.09310	N	1	B;B	0.25563	0.011;0.129	B;B	0.20767	0.018;0.031	T	0.32745	-0.9895	9	.	.	.	-0.9377	8.1237	0.30986	0.3086:0.0:0.6914:0.0	.	250;250	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	S	250	ENSP00000392511:P250S;ENSP00000404512:P250S	.	P	-	1	0	PRRT3	9966052	0.739000	0.28196	0.028000	0.17463	0.001000	0.01503	0.645000	0.24782	-0.071000	0.12886	-0.813000	0.03139	CCT		0.597	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		66	306	0	0	0	1	0	66	306				
GIPC2	54810	broad.mit.edu	37	1	78585184	78585184	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78585184G>A	ENST00000370759.3	+	4	907		c.e4+1			NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GGAAGAAATGGTATGTTATGT	0.398																																						ENST00000370759.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.e4+1		GIPC PDZ domain containing family, member 2							136.0	132.0	133.0					1																	78585184		2203	4300	6503	SO:0001630	splice_region_variant	54810					cytoplasm		g.chr1:78585184G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.714+1G>A	1.37:g.78585184G>A								NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN			4	907	+								Q8IYD3|Q9NXS7	Splice_Site	SNP	ENST00000370759.3	37		CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645851	0.29246	.	.	ENSG00000137960	ENST00000370759	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.954	0.71098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIPC2	78357772	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	5.978000	0.70501	2.678000	0.91216	0.655000	0.94253	.		0.398	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655	Intron	14	117	0	0	0	1	0	14	117				
SCUBE1	80274	broad.mit.edu	37	22	43687117	43687117	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687117T>G	ENST00000360835.4	-	4	545	c.419A>C	c.(418-420)gAg>gCg	p.E140A	SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	140	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCACTGACACTCGTAGCTGCC	0.547																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(418-420)gAg>gCg		signal peptide, CUB domain, EGF-like 1							110.0	66.0	81.0					22																	43687117		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43687117T>G		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.419A>C	22.37:g.43687117T>G	ENSP00000354080:p.Glu140Ala					SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	p.E140A	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			4	545	-		all_neural(38;0.0414)|Ovarian(80;0.07)	140			EGF-like 3; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.419A>C	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637175	0.87760	.	.	ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460	D;D	0.96522	-4.04;-4.04	4.97	4.97	0.65823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.975;0.999	D	0.92922	0.6356	10	0.13470	T	0.59	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	140;140	B1AH90;Q8IWY4	.;SCUB1_HUMAN	A	140	ENSP00000354080:E140A;ENSP00000290460:E140A	ENSP00000290460:E140A	E	-	2	0	SCUBE1	42017061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.686000	0.84128	2.077000	0.62373	0.533000	0.62120	GAG		0.547	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		33	110	0	0	0	1	0	33	110				
KRTAP21-1	337977	broad.mit.edu	37	21	32127556	32127556	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32127556G>T	ENST00000335093.3	-	1	190	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	47						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cataaccacagccataatggg	0.542																																						ENST00000335093.3																			0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						c.(139-141)ggC>ggA		keratin associated protein 21-1							156.0	135.0	142.0					21																	32127556		2203	4300	6503	SO:0001819	synonymous_variant	337977					intermediate filament		g.chr21:32127556G>T	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.141C>A	21.37:g.32127556G>T							p.G47G	NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN			1	190	-			47						Silent	SNP	ENST00000335093.3	37	c.141C>A	CCDS13606.1																																																																																				0.542	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			181	807	1	0	1.85097e-90	1	2.37618e-90	181	807				
IGHG1	3500	broad.mit.edu	37	14	106209262	106209262	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106209262G>T	ENST00000390548.2	-	0	146							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGGTGTGCACGCCGCTGGTCA	0.647																																						ENST00000390548.2																			0																				36.0	28.0	31.0					14																	106209262		1917	4062	5979			0							g.chr14:106209262G>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106209262G>T														0	146	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.647	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		46	180	1	0	1.30916e-28	1	1.52443e-28	46	180				
CFAP43	80217	broad.mit.edu	37	10	105927385	105927385	+	Silent	SNP	A	A	G	rs373911488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105927385A>G	ENST00000278064.2	-	22	2920	c.2595T>C	c.(2593-2595)tgT>tgC	p.C865C	WDR96_ENST00000357060.3_Silent_p.C934C|WDR96_ENST00000428666.1_Silent_p.C935C																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTACTTTAAGACACTCTGCTT	0.358																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2800-2802)tgT>tgC		WD repeat domain 96		A		1,4405	2.1+/-5.4	0,1,2202	93.0	97.0	95.0		2802	-1.7	1.0	10		95	0,8600		0,0,4300	no	coding-synonymous	WDR96	NM_025145.5		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		934/1666	105927385	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105927385A>G																												ENST00000278064.2:c.2595T>C	10.37:g.105927385A>G						WDR96_ENST00000428666.1_Silent_p.C935C|WDR96_ENST00000278064.2_Silent_p.C865C	p.C934C	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			22	2917	-			934						Silent	SNP	ENST00000278064.2	37	c.2802T>C		.	.	.	.	.	.	.	.	.	.	A	7.532	0.658789	0.14645	2.27E-4	0.0	ENSG00000197748	ENST00000434629	.	.	.	5.74	-1.67	0.08238	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.43766	-0.9371	4	.	.	.	.	6.5222	0.22281	0.6144:0.0:0.2743:0.1114	.	.	.	.	A	295	.	.	V	-	2	0	WDR96	105917375	1.000000	0.71417	0.994000	0.49952	0.748000	0.42578	1.070000	0.30653	-0.099000	0.12263	0.528000	0.53228	GTC		0.358	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			60	234	0	0	0	1	0	60	234				
ZNF540	163255	broad.mit.edu	37	19	38103199	38103199	+	Missense_Mutation	SNP	G	G	A	rs571893947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38103199G>A	ENST00000592533.1	+	5	1350	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R|ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	340			G -> R. {ECO:0000269|PubMed:23033978}.		negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTGTATGCGGACAACTTAC	0.353																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(1018-1020)Gga>Aga		zinc finger protein 540							72.0	70.0	71.0					19																	38103199		2203	4300	6503	SO:0001583	missense	163255							g.chr19:38103199G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1018G>A	19.37:g.38103199G>A	ENSP00000466274:p.Gly340Arg					ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R|ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R	p.G340R	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1350	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1018G>A	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662799	0.29515	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.10288	2.89	2.16	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.11673	0.155	0.09310	N	1	P;P	0.42757	0.789;0.684	B;B	0.36567	0.228;0.114	T	0.36456	-0.9747	9	0.51188	T	0.08	.	5.4742	0.16686	0.0:0.1763:0.5265:0.2972	.	308;340	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	340;308	ENSP00000324598:G340R	ENSP00000324598:G340R	G	+	1	0	ZNF540	42795039	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-4.809000	0.00183	0.211000	0.20683	0.305000	0.20034	GGA		0.353	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		53	244	0	0	0	1	0	53	244				
ARL10	285598	broad.mit.edu	37	5	175798762	175798762	+	Missense_Mutation	SNP	G	G	A	rs148633924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175798762G>A	ENST00000310389.5	+	4	695	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	200					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GAGCTGCAGCGGGAGCTGGGT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19153	0.0		0.0	False		,,,				2504	0.001					ENST00000310389.5																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(598-600)cGg>cAg		ADP-ribosylation factor-like 10		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	105.0	103.0		599	-1.5	1.0	5	dbSNP_134	103	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ARL10	NM_173664.4	43	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	200/245	175798762	5,13001	2203	4300	6503	SO:0001583	missense	285598						GTP binding	g.chr5:175798762G>A	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.599G>A	5.37:g.175798762G>A	ENSP00000308496:p.Arg200Gln						p.R200Q	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	4	695	+	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	200						Missense_Mutation	SNP	ENST00000310389.5	37	c.599G>A	CCDS4400.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570061	0.28003	2.27E-4	4.65E-4	ENSG00000175414	ENST00000310389	T	0.62639	0.01	5.39	-1.55	0.08558	.	4.336230	0.00664	N	0.000603	T	0.36963	0.0986	N	0.04768	-0.165	0.21782	N	0.999548	B	0.16396	0.017	B	0.09377	0.004	T	0.44081	-0.9351	10	0.02654	T	1	-5.0117	9.7024	0.40196	0.6775:0.0:0.3225:0.0	.	200	Q8N8L6	ARL10_HUMAN	Q	200	ENSP00000308496:R200Q	ENSP00000308496:R200Q	R	+	2	0	ARL10	175731368	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	0.716000	0.25836	-0.310000	0.08766	-1.202000	0.01658	CGG		0.587	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		164	433	0	0	0	1	0	164	433				
ZIC5	85416	broad.mit.edu	37	13	100617847	100617847	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100617847C>A	ENST00000267294.4	-	2	2009	c.1776G>T	c.(1774-1776)ggG>ggT	p.G592G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	592					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTGGAGTCCCCACTGATG	0.577																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1774-1776)ggG>ggT		Zic family member 5							103.0	105.0	105.0					13																	100617847		2203	4300	6503	SO:0001819	synonymous_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617847C>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1776G>T	13.37:g.100617847C>A							p.G592G	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2009	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		592					Q5VYB0	Silent	SNP	ENST00000267294.4	37	c.1776G>T	CCDS9494.2																																																																																				0.577	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		104	539	1	0	2.6418e-55	1	3.30104e-55	104	539				
RPLP2	6181	broad.mit.edu	37	11	812603	812603	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:812603G>T	ENST00000321153.4	+	4	635	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S|SNORA52_ENST00000362915.1_RNA	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCTCTGCAGCCCCTGCTGC	0.622																																						ENST00000321153.4																			0				lung(1)	1						c.(241-243)Gcc>Tcc		ribosomal protein, large, P2							44.0	41.0	42.0					11																	812603		2203	4299	6502	SO:0001583	missense	6181				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr11:812603G>T	M17887	CCDS7717.1	11p15.5	2011-07-29			ENSG00000177600	ENSG00000177600		"""L ribosomal proteins"""	10377	protein-coding gene	gene with protein product	"""60S acidic ribosomal protein P2"", ""acidic ribosomal phosphoprotein P2"""	180530		D11S2243E		3323886	Standard	NM_001004		Approved	P2, RPP2, MGC71408, LP2	uc001lrq.1	P05387	OTTHUMG00000133317	ENST00000321153.4:c.241G>T	11.37:g.812603G>T	ENSP00000322419:p.Ala81Ser					RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S	p.A81S	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	635	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	81					Q6FG96	Missense_Mutation	SNP	ENST00000321153.4	37	c.241G>T	CCDS7717.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.733433|2.733433	0.48939|0.48939	.|.	.|.	ENSG00000177600|ENSG00000177600	ENST00000321153;ENST00000530797|ENST00000530398	.|.	.|.	.|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.258634|.	0.36854|.	N|.	0.002380|.	T|T	0.73860|0.73860	0.3641|0.3641	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	P|.	0.49447|.	0.924|.	P|.	0.47673|.	0.554|.	T|T	0.73789|0.73789	-0.3872|-0.3872	9|5	0.51188|.	T|.	0.08|.	-13.2689|-13.2689	17.898|17.898	0.88895|0.88895	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81|.	P05387|.	RLA2_HUMAN|.	S|H	81|57	.|.	ENSP00000322419:A81S|.	A|Q	+|+	1|3	0|2	RPLP2|RPLP2	802603|802603	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.191000|0.191000	0.23601|0.23601	6.804000|6.804000	0.75186|0.75186	2.394000|2.394000	0.81467|0.81467	0.561000|0.561000	0.74099|0.74099	GCC|CAG		0.622	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257115.2	NM_001004		7	176	1	0	1.26484e-09	1	1.33308e-09	7	176				
USPL1	10208	broad.mit.edu	37	13	31232400	31232400	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232400A>C	ENST00000255304.4	+	9	2528	c.2186A>C	c.(2185-2187)gAa>gCa	p.E729A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	729					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGAAAAAAGAAACTACAGCA	0.363																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(2185-2187)gAa>gCa		ubiquitin specific peptidase like 1							60.0	63.0	62.0					13																	31232400		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232400A>C	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2186A>C	13.37:g.31232400A>C	ENSP00000255304:p.Glu729Ala						p.E729A	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2528	+		Lung SC(185;0.0257)|Breast(139;0.203)	729					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.2186A>C	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513919	0.27123	.	.	ENSG00000132952	ENST00000255304	T	0.15603	2.41	5.38	5.38	0.77491	.	0.683044	0.15114	N	0.279779	T	0.25717	0.0626	L	0.60455	1.87	0.09310	N	1	P	0.49559	0.925	P	0.47075	0.536	T	0.10222	-1.0639	10	0.41790	T	0.15	-18.7669	13.9512	0.64118	1.0:0.0:0.0:0.0	.	729	Q5W0Q7	USPL1_HUMAN	A	729	ENSP00000255304:E729A	ENSP00000255304:E729A	E	+	2	0	USPL1	30130400	0.910000	0.30920	0.140000	0.22221	0.121000	0.20230	5.665000	0.68052	2.040000	0.60383	0.533000	0.62120	GAA		0.363	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		95	363	0	0	0	1	0	95	363				
FMNL1	752	broad.mit.edu	37	17	43311026	43311026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43311026A>G	ENST00000331495.3	+	5	749	c.413A>G	c.(412-414)gAg>gGg	p.E138G	FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	138	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGGTGCAGGAGTTCCTCAAT	0.627																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(412-414)gAg>gGg		formin-like 1							143.0	127.0	132.0					17																	43311026		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43311026A>G	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.413A>G	17.37:g.43311026A>G	ENSP00000329219:p.Glu138Gly					FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G	p.E138G	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			5	749	+			138			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.413A>G	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.594788	0.66219	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.88818	-2.43;-2.43	5.14	5.14	0.70334	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.054446	0.64402	D	0.000001	D	0.95162	0.8432	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95901	0.8915	10	0.72032	D	0.01	.	13.7986	0.63186	1.0:0.0:0.0:0.0	.	138;138	O95466-2;O95466	.;FMNL_HUMAN	G	138	ENSP00000327442:E138G;ENSP00000329219:E138G	ENSP00000327442:E138G	E	+	2	0	FMNL1	40666809	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.362000	0.79507	1.946000	0.56461	0.459000	0.35465	GAG		0.627	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		46	257	0	0	0	1	0	46	257				
AS3MT	57412	broad.mit.edu	37	10	104650340	104650340	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104650340A>G	ENST00000369880.3	+	10	1002	c.925A>G	c.(925-927)Atc>Gtc	p.I309V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	309					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AACAGCAGCTATCTTGAAGAA	0.358																																						ENST00000369880.3																			0				large_intestine(1)|lung(6)	7						c.(925-927)Atc>Gtc		arsenic (+3 oxidation state) methyltransferase							116.0	109.0	112.0					10																	104650340		1837	4081	5918	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104650340A>G	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.925A>G	10.37:g.104650340A>G	ENSP00000358896:p.Ile309Val					C10ORF32_ENST00000299353.6_3'UTR	p.I309V	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	10	1002	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	309					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.925A>G	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935135	0.34189	.	.	ENSG00000214435	ENST00000369880	T	0.23552	1.9	5.08	1.25	0.21368	.	0.103406	0.64402	N	0.000005	T	0.23451	0.0567	M	0.62209	1.925	0.25357	N	0.988814	B;B;B	0.22746	0.074;0.044;0.044	B;B;B	0.21917	0.037;0.026;0.026	T	0.17471	-1.0368	9	0.38643	T	0.18	-5.2001	8.5109	0.33217	0.7531:0.0:0.2469:0.0	.	309;309;309	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	V	309	ENSP00000358896:I309V	ENSP00000358896:I309V	I	+	1	0	AS3MT	104640330	0.412000	0.25392	0.952000	0.39060	0.984000	0.73092	-0.020000	0.12525	0.320000	0.23234	0.413000	0.27773	ATC		0.358	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		102	382	0	0	0	1	0	102	382				
CD163L1	283316	broad.mit.edu	37	12	7559140	7559140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559140C>T	ENST00000313599.3	-	5	1132	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M|CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	359	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGATCACAGACACATCG	0.403																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(1075-1077)Gtg>Atg		CD163 molecule-like 1							73.0	67.0	69.0					12																	7559140		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559140C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1075G>A	12.37:g.7559140C>T	ENSP00000315945:p.Val359Met					CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M|CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M	p.V359M			Q9NR16	C163B_HUMAN			5	1132	-			359			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.1075G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345579	0.61073	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.56776	0.44;0.44;0.44	1.88	1.88	0.25563	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.73187	0.3555	M	0.89414	3.03	0.27534	N	0.950993	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.62478	-0.6846	9	0.87932	D	0	.	9.7292	0.40350	0.0:1.0:0.0:0.0	.	369;359	E7EVK4;Q9NR16	.;C163B_HUMAN	M	359;369;359	ENSP00000315945:V359M;ENSP00000393474:V369M;ENSP00000379871:V359M	ENSP00000315945:V359M	V	-	1	0	CD163L1	7450407	0.905000	0.30787	0.082000	0.20525	0.798000	0.45092	1.981000	0.40628	1.333000	0.45449	0.455000	0.32223	GTG		0.403	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		47	230	0	0	0	1	0	47	230				
GPR152	390212	broad.mit.edu	37	11	67219490	67219490	+	Missense_Mutation	SNP	C	C	T	rs538131705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219490C>T	ENST00000312457.2	-	1	710	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCCACACGGGCGAAGCCCCGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16470	0.001		0.0	False		,,,				2504	0.0				Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(706-708)Gcc>Acc		G protein-coupled receptor 152							31.0	33.0	33.0					11																	67219490		2200	4295	6495	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219490C>T	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.706G>A	11.37:g.67219490C>T	ENSP00000310255:p.Ala236Thr						p.A236T	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	710	-			236					Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.706G>A	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215546	0.22373	.	.	ENSG00000175514	ENST00000312457	T	0.73469	-0.75	4.58	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.190474	0.25648	N	0.029228	T	0.58509	0.2127	N	0.14661	0.345	0.30379	N	0.782109	D	0.55172	0.97	P	0.46208	0.507	T	0.58595	-0.7609	10	0.32370	T	0.25	.	9.2278	0.37418	0.3228:0.6772:0.0:0.0	.	236	Q8TDT2	GP152_HUMAN	T	236	ENSP00000310255:A236T	ENSP00000310255:A236T	A	-	1	0	GPR152	66976066	0.000000	0.05858	0.870000	0.34147	0.133000	0.20885	0.582000	0.23834	2.350000	0.79820	0.561000	0.74099	GCC		0.667	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			25	263	0	0	0	1	0	25	263				
MANSC1	54682	broad.mit.edu	37	12	12483765	12483765	+	Silent	SNP	G	G	A	rs375298595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12483765G>A	ENST00000535902.1	-	4	1055	c.492C>T	c.(490-492)acC>acT	p.T164T	MANSC1_ENST00000396349.3_Silent_p.T130T|MANSC1_ENST00000545735.1_Silent_p.T83T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	164						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGAGATATCGGTGGGCTTTG	0.453																																						ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(490-492)acC>acT		MANSC domain containing 1		G		1,4405	2.1+/-5.4	0,1,2202	93.0	89.0	90.0		492	-7.1	0.0	12		90	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MANSC1	NM_018050.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		164/432	12483765	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483765G>A	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.492C>T	12.37:g.12483765G>A						MANSC1_ENST00000545735.1_Silent_p.T83T|MANSC1_ENST00000396349.3_Silent_p.T130T	p.T164T			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1055	-		Prostate(47;0.0865)	164					Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.492C>T	CCDS8648.1																																																																																				0.453	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		9	453	0	0	0	1	0	9	453				
CLIP4	79745	broad.mit.edu	37	2	29397296	29397296	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29397296G>T	ENST00000320081.5	+	15	2036	c.1781G>T	c.(1780-1782)aGa>aTa	p.R594I	CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	594										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTAACAGAAGAAATGCTTTT	0.348																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(1780-1782)aGa>aTa		CAP-GLY domain containing linker protein family, member 4							80.0	82.0	81.0					2																	29397296		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29397296G>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1781G>T	2.37:g.29397296G>T	ENSP00000327009:p.Arg594Ile					CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I	p.R594I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			15	2036	+	Acute lymphoblastic leukemia(172;0.155)		594					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1781G>T	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524429	0.85600	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.07	6.07	0.98685	Cytoskeleton-associated protein, Gly-rich domain (1);	0.095372	0.64402	D	0.000001	T	0.46698	0.1406	L	0.27053	0.805	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.36335	-0.9752	10	0.38643	T	0.18	.	17.8153	0.88630	0.0:0.0:1.0:0.0	.	594	Q8N3C7	CLIP4_HUMAN	I	594;487;594;596;594;612;554	ENSP00000384242:R594I;ENSP00000385148:R487I;ENSP00000385594:R594I;ENSP00000327009:R594I	ENSP00000327009:R594I	R	+	2	0	CLIP4	29250800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.806000	0.55583	2.885000	0.99019	0.655000	0.94253	AGA		0.348	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		35	255	1	0	3.86903e-22	1	4.37239e-22	35	255				
FRMPD3	84443	broad.mit.edu	37	X	106765713	106765713	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106765713C>A	ENST00000276185.4	+	1	34	c.34C>A	c.(34-36)Cgc>Agc	p.R12S	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	12						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGTCCAGGACCGTGAGTGGGA	0.597																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.e1+1		FERM and PDZ domain containing 3							43.0	38.0	40.0					X																	106765713		876	1991	2867	SO:0001630	splice_region_variant	84443					cytoskeleton		g.chrX:106765713C>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.34+1C>A	X.37:g.106765713C>A						FRMPD3-AS1_ENST00000415252.1_RNA	p.R12_splice			Q5JV73	FRPD3_HUMAN			1	34	+			12					Q96JK8	Splice_Site	SNP	ENST00000276185.4	37	c.34_splice		.	.	.	.	.	.	.	.	.	.	c	10.54	1.378593	0.24944	.	.	ENSG00000147234	ENST00000276185	T	0.15017	2.46	3.06	2.15	0.27550	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.28744	-1.0034	7	0.87932	D	0	.	7.1009	0.25336	0.0:0.7242:0.2758:0.0	.	.	.	.	S	12	ENSP00000276185:R12S	ENSP00000276185:R12S	R	+	1	0	FRMPD3	106652369	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.073000	0.14640	0.649000	0.30751	0.411000	0.27672	CGC		0.597	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978	Missense_Mutation	25	121	1	0	1.66031e-10	1	1.76115e-10	25	121				
SHROOM3	57619	broad.mit.edu	37	4	77631357	77631357	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77631357C>T	ENST00000296043.6	+	3	1325	c.372C>T	c.(370-372)ttC>ttT	p.F124F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	124					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCTAACTTCGTCAGCCCAG	0.537																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(370-372)ttC>ttT		shroom family member 3							111.0	99.0	103.0					4																	77631357		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77631357C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.372C>T	4.37:g.77631357C>T						SHROOM3_ENST00000473602.1_3'UTR	p.F124F	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		3	1325	+			124					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.372C>T	CCDS3579.2																																																																																				0.537	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		81	345	0	0	0	1	0	81	345				
CSNK1D	1453	broad.mit.edu	37	17	80202665	80202665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80202665G>A	ENST00000314028.6	-	9	1589	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	414					circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TCTCATCGGTGCACGACAGAC	0.567											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314028.6																			0				breast(2)|large_intestine(2)|lung(7)	11						c.(1240-1242)Cac>Tac		casein kinase 1, delta							118.0	87.0	97.0					17																	80202665		2203	4300	6503	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80202665G>A		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.1240C>T	17.37:g.80202665G>A	ENSP00000324464:p.His414Tyr		OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1196	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	p.H414Y	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		9	1589	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		414					A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.1240C>T	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208789	0.58343	.	.	ENSG00000141551	ENST00000314028;ENST00000398519	T	0.61158	0.13	5.51	4.48	0.54585	.	0.473238	0.23896	N	0.043484	T	0.32615	0.0835	N	0.08118	0	0.80722	D	1	B	0.21821	0.061	B	0.15484	0.013	T	0.23084	-1.0198	10	0.02654	T	1	.	14.9006	0.70675	0.0:0.1436:0.8564:0.0	.	414	P48730	KC1D_HUMAN	Y	414;357	ENSP00000324464:H414Y	ENSP00000324464:H414Y	H	-	1	0	CSNK1D	77795954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.153000	0.77428	2.605000	0.88082	0.655000	0.94253	CAC		0.567	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		66	262	0	0	0	1	0	66	262				
MFSD9	84804	broad.mit.edu	37	2	103353247	103353247	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103353247T>C	ENST00000258436.5	-	1	66	c.23A>G	c.(22-24)gAc>gGc	p.D8G	TMEM182_ENST00000409528.1_5'Flank|TMEM182_ENST00000409173.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	8					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGAGTTCATGTCCCAGTGACC	0.721																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(22-24)gAc>gGc		major facilitator superfamily domain containing 9							25.0	30.0	28.0					2																	103353247		2203	4299	6502	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103353247T>C		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.23A>G	2.37:g.103353247T>C	ENSP00000258436:p.Asp8Gly						p.D8G	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			1	66	-			8					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.23A>G	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235011	0.05983	.	.	ENSG00000135953	ENST00000258436	T	0.64991	-0.13	4.24	-4.59	0.03400	.	1.454500	0.04609	N	0.399982	T	0.30135	0.0755	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.08381	T	0.77	-4.4032	3.5159	0.07725	0.4053:0.2354:0.0:0.3594	.	8	Q8NBP5	MFSD9_HUMAN	G	8	ENSP00000258436:D8G	ENSP00000258436:D8G	D	-	2	0	MFSD9	102719679	0.312000	0.24545	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.778000	0.04566	-1.589000	0.00846	GAC		0.721	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		27	288	0	0	0	1	0	27	288				
ELTD1	64123	broad.mit.edu	37	1	79403918	79403918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79403918C>T	ENST00000370742.3	-	5	506	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	148					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CACAGAATTTCTATAGACTTC	0.318																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(442-444)aGa>aAa		EGF, latrophilin and seven transmembrane domain containing 1							60.0	55.0	57.0					1																	79403918		1798	4059	5857	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403918C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.443G>A	1.37:g.79403918C>T	ENSP00000359778:p.Arg148Lys						p.R148K	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	5	506	-			148					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.443G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	7.090	0.571971	0.13623	.	.	ENSG00000162618	ENST00000370742	T	0.09163	3.01	5.86	0.105	0.14535	Domain of unknown function DUF3497 (1);	0.462533	0.27831	N	0.017662	T	0.02193	0.0068	L	0.31065	0.9	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46233	-0.9206	9	.	.	.	.	11.061	0.47946	0.0:0.5536:0.0:0.4464	.	148	Q9HBW9	ELTD1_HUMAN	K	148	ENSP00000359778:R148K	.	R	-	2	0	ELTD1	79176506	0.007000	0.16637	0.956000	0.39512	0.962000	0.63368	-0.065000	0.11617	0.102000	0.17638	0.650000	0.86243	AGA		0.318	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		20	146	0	0	0	1	0	20	146				
CLASRP	11129	broad.mit.edu	37	19	45563854	45563854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45563854C>T	ENST00000221455.3	+	10	930	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	CLASRP_ENST00000391953.4_Missense_Mutation_p.R216W|CLASRP_ENST00000544944.2_Missense_Mutation_p.R278W	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	278					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TCGGGAGAAGCGGCTGAGGGG	0.672																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(832-834)Cgg>Tgg		CLK4-associating serine/arginine rich protein							25.0	26.0	25.0					19																	45563854		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45563854C>T	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.832C>T	19.37:g.45563854C>T	ENSP00000221455:p.Arg278Trp					CLASRP_ENST00000221455.3_Missense_Mutation_p.R278W|CLASRP_ENST00000391953.4_Missense_Mutation_p.R216W	p.R278W			Q8N2M8	CLASR_HUMAN			9	1524	+			278					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.832C>T	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587263	0.66105	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.60299	0.97;0.94;0.2;0.91	4.5	3.41	0.39046	.	0.000000	0.32719	U	0.005738	T	0.68696	0.3029	M	0.62723	1.935	0.49051	D	0.999747	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.65010	0.858;0.931;0.854	T	0.72121	-0.4386	10	0.87932	D	0	-14.7167	11.4395	0.50088	0.1912:0.8088:0.0:0.0	.	216;278;278	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	W	278;278;216;278	ENSP00000221455:R278W;ENSP00000375814:R278W;ENSP00000375815:R216W;ENSP00000438702:R278W	ENSP00000221455:R278W	R	+	1	2	CLASRP	50255694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.037000	0.30241	2.340000	0.79590	0.563000	0.77884	CGG		0.672	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		9	100	0	0	0	1	0	9	100				
PHC3	80012	broad.mit.edu	37	3	169846869	169846869	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169846869A>C	ENST00000494943.1	-	8	1423	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R	PHC3_ENST00000495893.2_Missense_Mutation_p.L464R|PHC3_ENST00000467570.1_Missense_Mutation_p.L411R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	452	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGGGATGGAAGATTCAACTG	0.522																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(1354-1356)cTt>cGt		polyhomeotic homolog 3 (Drosophila)							63.0	65.0	64.0					3																	169846869		2085	4211	6296	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169846869A>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1355T>G	3.37:g.169846869A>C	ENSP00000420271:p.Leu452Arg					PHC3_ENST00000467570.1_Missense_Mutation_p.L411R|PHC3_ENST00000495893.1_Missense_Mutation_p.L464R	p.L452R			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1423	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		452			Gln-rich.|Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1355T>G		.	.	.	.	.	.	.	.	.	.	A	14.10	2.434475	0.43224	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33865	1.39;1.4	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000023	T	0.47395	0.1443	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.997	D;D;P;D	0.66351	0.943;0.943;0.878;0.943	T	0.27872	-1.0061	10	0.15952	T	0.53	-11.6484	14.6811	0.69017	1.0:0.0:0.0:0.0	.	411;411;452;464	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	R	452;464;411	ENSP00000420271:L452R;ENSP00000420294:L464R	ENSP00000419089:L411R	L	-	2	0	PHC3	171329563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.432000	0.66514	2.039000	0.60335	0.460000	0.39030	CTT		0.522	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		27	88	0	0	0	1	0	27	88				
CUX2	23316	broad.mit.edu	37	12	111758430	111758430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758430C>T	ENST00000261726.6	+	17	2771	c.2617C>T	c.(2617-2619)Ccg>Tcg	p.P873S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	873					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCTACGTGCCGCGCACCCT	0.716																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2617-2619)Ccg>Tcg		cut-like homeobox 2							7.0	8.0	8.0					12																	111758430		2136	4237	6373	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758430C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2617C>T	12.37:g.111758430C>T	ENSP00000261726:p.Pro873Ser						p.P873S	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2771	+			873					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2617C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159415	0.78226	.	.	ENSG00000111249	ENST00000261726	T	0.46063	0.88	4.13	4.13	0.48395	.	0.111705	0.64402	D	0.000007	T	0.50582	0.1624	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.38972	-0.9636	10	0.12430	T	0.62	-18.0431	16.4424	0.83906	0.0:1.0:0.0:0.0	.	873	O14529	CUX2_HUMAN	S	873	ENSP00000261726:P873S	ENSP00000261726:P873S	P	+	1	0	CUX2	110242813	1.000000	0.71417	0.959000	0.39883	0.954000	0.61252	5.678000	0.68153	1.866000	0.54105	0.289000	0.19496	CCG		0.716	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	104	0	0	0	1	0	12	104				
EPS8L2	64787	broad.mit.edu	37	11	725803	725803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:725803C>A	ENST00000533256.1	+	18	2011	c.1636C>A	c.(1636-1638)Cta>Ata	p.L546I	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	546	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAACATCCTAGGCGAGGC	0.766																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1636-1638)Cta>Ata		EPS8-like 2							5.0	7.0	7.0					11																	725803		1840	3856	5696	SO:0001583	missense	64787					cytoplasm		g.chr11:725803C>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1636C>A	11.37:g.725803C>A	ENSP00000435585:p.Leu546Ile					EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|AP006621.9_ENST00000527021.2_RNA	p.L546I			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2011	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	546			SH3.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1636C>A	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	c	15.75	2.927052	0.52759	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	3.19	2.27	0.28462	Src homology-3 domain (3);	0.118681	0.35555	N	0.003132	T	0.42517	0.1206	L	0.46885	1.475	0.40983	D	0.984797	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.31641	-0.9936	10	0.72032	D	0.01	-20.6528	6.846	0.23988	0.0:0.7603:0.0:0.2397	.	562;546	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	I	546;546;546;562	ENSP00000320828:L546I;ENSP00000435585:L546I;ENSP00000436035:L546I;ENSP00000436230:L562I	ENSP00000320828:L546I	L	+	1	2	EPS8L2	715803	1.000000	0.71417	0.988000	0.46212	0.184000	0.23303	1.194000	0.32174	0.688000	0.31529	0.457000	0.33378	CTA		0.766	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		11	48	1	0	2.32078e-09	1	2.442e-09	11	48				
CNN3	1266	broad.mit.edu	37	1	95363358	95363358	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95363358G>A	ENST00000370206.4	-	7	1313	c.930C>T	c.(928-930)ggC>ggT	p.G310G	CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000394202.4_Silent_p.G264G|CNN3_ENST00000538964.1_Silent_p.G310G	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	310	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CCTGGTACTCGCCATGATACT	0.428																																						ENST00000370206.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18						c.(928-930)ggC>ggT		calponin 3, acidic							265.0	231.0	242.0					1																	95363358		2203	4300	6503	SO:0001819	synonymous_variant	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95363358G>A	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.930C>T	1.37:g.95363358G>A						CNN3_ENST00000394202.4_Silent_p.G264G|CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000538964.1_Silent_p.G310G	p.G310G	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	7	1313	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	310			Asp/Glu-rich (acidic).		B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	ENST00000370206.4	37	c.930C>T	CCDS30775.1																																																																																				0.428	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		48	696	0	0	0	1	0	48	696				
PIK3AP1	118788	broad.mit.edu	37	10	98405355	98405355	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98405355G>T	ENST00000339364.5	-	8	1369	c.1250C>A	c.(1249-1251)gCt>gAt	p.A417D	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	417					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTCGTACACAGCATCAGCCTC	0.552																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1249-1251)gCt>gAt		phosphoinositide-3-kinase adaptor protein 1							187.0	146.0	160.0					10																	98405355		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98405355G>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1250C>A	10.37:g.98405355G>T	ENSP00000339826:p.Ala417Asp					PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D|PIK3AP1_ENST00000468783.1_5'UTR	p.A417D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	8	1369	-		Colorectal(252;0.0442)	417					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1250C>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679631	0.00751	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.15372	3.1;2.43	5.81	1.62	0.23740	.	0.570773	0.20462	N	0.091861	T	0.06917	0.0176	N	0.04508	-0.205	0.18873	N	0.999987	B	0.06786	0.001	B	0.09377	0.004	T	0.39251	-0.9623	10	0.02654	T	1	-1.1317	14.6981	0.69136	0.0:0.0:0.4863:0.5137	.	417	Q6ZUJ8	BCAP_HUMAN	D	417;239	ENSP00000339826:A417D;ENSP00000360151:A239D	ENSP00000339826:A417D	A	-	2	0	PIK3AP1	98395345	0.137000	0.22531	0.004000	0.12327	0.275000	0.26752	2.701000	0.47094	0.025000	0.15241	-0.169000	0.13324	GCT		0.552	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		59	310	1	0	7.41606e-26	1	8.52628e-26	59	310				
OSBPL10	114884	broad.mit.edu	37	3	31918002	31918002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:31918002C>T	ENST00000396556.2	-	3	582	c.460G>A	c.(460-462)Gct>Act	p.A154T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	154	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTTGCATCAGCAGCTAAAATA	0.433																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(460-462)Gct>Act		oxysterol binding protein-like 10							89.0	86.0	87.0					3																	31918002		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31918002C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.460G>A	3.37:g.31918002C>T	ENSP00000379804:p.Ala154Thr					OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	p.A154T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	3	582	-			154			PH.		B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.460G>A	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564909	0.13498	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.45276	0.9;2.26	5.26	4.37	0.52481	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.361080	0.27956	N	0.017174	T	0.25865	0.0630	N	0.20401	0.57	0.26882	N	0.967524	P;B	0.43578	0.811;0.053	B;B	0.40825	0.341;0.088	T	0.07347	-1.0777	10	0.16896	T	0.51	-6.2716	9.3779	0.38295	0.1528:0.7726:0.0:0.0745	.	154;154	B4E212;Q9BXB5	.;OSB10_HUMAN	T	154	ENSP00000379804:A154T;ENSP00000406124:A154T	ENSP00000379804:A154T	A	-	1	0	OSBPL10	31893006	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.571000	0.36450	1.182000	0.42928	0.563000	0.77884	GCT		0.433	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			38	205	0	0	0	1	0	38	205				
MUC17	140453	broad.mit.edu	37	7	100676247	100676247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100676247C>T	ENST00000306151.4	+	3	1614	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	517	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATGTCTGTCAGCACC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1549-1551)tCt>tTt		mucin 17, cell surface associated							347.0	350.0	349.0					7																	100676247		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676247C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1550C>T	7.37:g.100676247C>T	ENSP00000302716:p.Ser517Phe						p.S517F	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1614	+	Lung NSC(181;0.136)|all_lung(186;0.182)		517			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1550C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.455	-0.563994	0.03939	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.45	-1.07	0.09968	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.31290	0.127	T	0.51795	-0.8660	9	0.37606	T	0.19	.	6.7974	0.23732	0.4807:0.5193:0.0:0.0	.	517	Q685J3	MUC17_HUMAN	F	517	ENSP00000302716:S517F	ENSP00000302716:S517F	S	+	2	0	MUC17	100462967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-0.270000	0.09285	-0.529000	0.04317	TCT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		78	2633	0	0	0	1	0	78	2633				
TBC1D17	79735	broad.mit.edu	37	19	50386980	50386980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50386980G>A	ENST00000221543.5	+	10	1403	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	TBC1D17_ENST00000535102.2_Silent_p.L335L	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	368	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTCACTTCTGCATGGATACC	0.557																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1102-1104)ctG>ctA		TBC1 domain family, member 17							127.0	100.0	110.0					19																	50386980		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50386980G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1104G>A	19.37:g.50386980G>A						TBC1D17_ENST00000535102.2_Silent_p.L335L	p.L368L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	10	1403	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	368			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.1104G>A	CCDS12785.1																																																																																				0.557	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		8	260	0	0	0	1	0	8	260				
CD48	962	broad.mit.edu	37	1	160651020	160651020	+	Silent	SNP	C	C	T	rs148599053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160651020C>T	ENST00000368046.3	-	3	711	c.624G>A	c.(622-624)acG>acA	p.T208T	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	208	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGAGGCAGACCGTGCCATTCT	0.517																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(622-624)acG>acA		CD48 molecule							105.0	93.0	97.0					1																	160651020		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651020C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.624G>A	1.37:g.160651020C>T						RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	p.T208T	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	711	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		208			Ig-like C2-type 2.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.624G>A	CCDS1208.1																																																																																				0.517	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		8	413	0	0	0	1	0	8	413				
SVEP1	79987	broad.mit.edu	37	9	113170918	113170918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113170918G>A	ENST00000401783.2	-	38	7298	c.6962C>T	c.(6961-6963)gCc>gTc	p.A2321V	SVEP1_ENST00000297826.5_Missense_Mutation_p.A247V|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2298V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2321	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGCACTTGGCAGGCATGCA	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6961-6963)gCc>gTc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							56.0	57.0	56.0					9																	113170918		1907	4129	6036	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170918G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6962C>T	9.37:g.113170918G>A	ENSP00000384917:p.Ala2321Val					SVEP1_ENST00000297826.5_Missense_Mutation_p.A247V|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2298V	p.A2321V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7298	-			2321			Sushi 16.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6962C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461962	0.04508	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.21734	1.99;1.99;1.99	5.8	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (1);	0.596150	0.19254	N	0.118854	T	0.06371	0.0164	N	0.00855	-1.145	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.22312	-1.0220	10	0.02654	T	1	.	14.0439	0.64693	0.075:0.0:0.925:0.0	.	2321	Q4LDE5	SVEP1_HUMAN	V	2321;2298;247	ENSP00000384917:A2321V;ENSP00000363593:A2298V;ENSP00000297826:A247V	ENSP00000297826:A247V	A	-	2	0	SVEP1	112210739	1.000000	0.71417	0.879000	0.34478	0.852000	0.48524	5.247000	0.65416	1.395000	0.46643	0.655000	0.94253	GCC		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	301	0	0	0	1	0	13	301				
PRRC2B	84726	broad.mit.edu	37	9	134363345	134363345	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134363345G>T	ENST00000357304.4	+	27	6142	c.6087G>T	c.(6085-6087)caG>caT	p.Q2029H	SNORD62A_ENST00000428514.1_RNA|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000405995.1_Missense_Mutation_p.Q1335H|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q1335H|PRRC2B_ENST00000372249.1_Missense_Mutation_p.Q126H	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2029							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGCATGCAGCCCTTGGAGA	0.642																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(6085-6087)caG>caT		proline-rich coiled-coil 2B							40.0	45.0	44.0					9																	134363345		2049	4196	6245	SO:0001583	missense	84726						protein binding	g.chr9:134363345G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6087G>T	9.37:g.134363345G>T	ENSP00000349856:p.Gln2029His					PRRC2B_ENST00000405995.1_Missense_Mutation_p.Q1335H|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q1335H|PRRC2B_ENST00000372249.1_Missense_Mutation_p.Q126H	p.Q2029H	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			27	6142	+			2029					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.6087G>T	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.432110|4.432110	0.83776|0.83776	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000320547|ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	.|T;T;T	.|0.07327	.|3.2;3.49;3.2	4.82|4.82	3.9|3.9	0.45041|0.45041	.|.	.|0.000000	.|0.39615	.|U	.|0.001304	T|T	0.19046|0.19046	0.0457|0.0457	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D;P	.|0.54047	.|0.964;0.874	.|P;B	.|0.53593	.|0.73;0.417	T|T	0.00591|0.00591	-1.1655|-1.1655	5|10	.|0.87932	.|D	.|0	-21.2766|-21.2766	13.0604|13.0604	0.59003|0.59003	0.0835:0.0:0.9165:0.0|0.0835:0.0:0.9165:0.0	.|.	.|1335;2029	.|Q5JSZ5-5;Q5JSZ5	.|.;PRC2B_HUMAN	S|H	36|1335;2029;1335;126	.|ENSP00000384606:Q1335H;ENSP00000349856:Q2029H;ENSP00000398853:Q1335H	.|ENSP00000349856:Q2029H	A|Q	+|+	1|3	0|2	PRRC2B|PRRC2B	133353166|133353166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.237000|6.237000	0.72345|0.72345	2.382000|2.382000	0.81193|0.81193	0.561000|0.561000	0.74099|0.74099	GCC|CAG		0.642	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				22	88	1	0	7.41877e-09	1	7.77385e-09	22	88				
GPR3	2827	broad.mit.edu	37	1	27721074	27721074	+	Missense_Mutation	SNP	G	G	A	rs369420552		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27721074G>A	ENST00000374024.3	+	2	871	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	258					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTTGCCGCCTGCTGGTT	0.607																																						ENST00000374024.3																			0				endometrium(3)|lung(3)|ovary(1)|skin(1)	8						c.(772-774)Gcc>Acc		G protein-coupled receptor 3							189.0	149.0	162.0					1																	27721074		2203	4300	6503	SO:0001583	missense	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27721074G>A	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.772G>A	1.37:g.27721074G>A	ENSP00000363136:p.Ala258Thr						p.A258T	NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	871	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	258					A8K570	Missense_Mutation	SNP	ENST00000374024.3	37	c.772G>A	CCDS303.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464925	0.43839	.	.	ENSG00000181773	ENST00000374024	T	0.37752	1.18	5.91	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.213027	0.40728	N	0.001024	T	0.33789	0.0875	M	0.72894	2.215	0.37667	D	0.923006	B	0.30439	0.279	B	0.23150	0.044	T	0.33954	-0.9848	10	0.44086	T	0.13	.	8.9616	0.35851	0.0761:0.0:0.7367:0.1872	.	258	P46089	GPR3_HUMAN	T	258	ENSP00000363136:A258T	ENSP00000363136:A258T	A	+	1	0	GPR3	27593661	0.993000	0.37304	0.980000	0.43619	0.990000	0.78478	2.228000	0.42981	2.804000	0.96469	0.462000	0.41574	GCC		0.607	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		77	300	0	0	0	1	0	77	300				
CASC1	55259	broad.mit.edu	37	12	25263104	25263104	+	Missense_Mutation	SNP	C	C	T	rs139550496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25263104C>T	ENST00000320267.9	-	14	1913	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000354189.5_Missense_Mutation_p.S675N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N|CASC1_ENST00000395987.3_Missense_Mutation_p.S617N	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	611										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTCCACTTGCTCCAACCAAA	0.348																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2023-2025)aGc>aAc		cancer susceptibility candidate 1							101.0	106.0	104.0					12																	25263104		2203	4300	6503	SO:0001583	missense	55259							g.chr12:25263104C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1832G>A	12.37:g.25263104C>T	ENSP00000313141:p.Ser611Asn					CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000395987.3_Missense_Mutation_p.S617N|CASC1_ENST00000320267.9_Missense_Mutation_p.S611N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N	p.S675N	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		15	2059	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		611					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.2024G>A	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418820	0.83559	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246	T;T;T;T;T	0.80566	-1.39;-0.45;-0.45;-0.99;-0.95	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.996;0.998	D	0.90453	0.4440	10	0.72032	D	0.01	-16.7377	17.6995	0.88290	0.0:1.0:0.0:0.0	.	499;552;675;611;617	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	N	675;617;611;571;499;552;421	ENSP00000346126:S675N;ENSP00000379310:S617N;ENSP00000313141:S611N;ENSP00000379313:S571N;ENSP00000437373:S552N	ENSP00000313141:S611N	S	-	2	0	CASC1	25154371	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.739000	0.68622	2.540000	0.85666	0.655000	0.94253	AGC		0.348	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		51	232	0	0	0	1	0	51	232				
AJAP1	55966	broad.mit.edu	37	1	4772030	4772030	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772030C>A	ENST00000378191.4	+	2	481	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	34					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATGTTTCAGCTCGCCGTGGA	0.706																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(100-102)Ctc>Atc		adherens junctions associated protein 1							79.0	103.0	95.0					1																	4772030		2200	4297	6497	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772030C>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.100C>A	1.37:g.4772030C>A	ENSP00000367433:p.Leu34Ile					AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I	p.L34I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	481	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	34					Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.100C>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772168	0.90108	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.60797	0.16;0.16	5.08	5.08	0.68730	.	0.077313	0.50627	D	0.000116	T	0.65760	0.2722	L	0.32530	0.975	0.53005	D	0.999967	D	0.76494	0.999	D	0.80764	0.994	T	0.68006	-0.5523	10	0.59425	D	0.04	-18.5667	13.9496	0.64109	0.0:1.0:0.0:0.0	.	34	Q9UKB5	AJAP1_HUMAN	I	34	ENSP00000367432:L34I;ENSP00000367433:L34I	ENSP00000367432:L34I	L	+	1	0	AJAP1	4671890	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.198000	0.58419	2.322000	0.78497	0.563000	0.77884	CTC		0.706	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		158	1480	1	0	1.04275e-50	1	1.2925e-50	158	1480				
CYP4F8	11283	broad.mit.edu	37	19	15733064	15733064	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15733064C>T	ENST00000441682.2	+	0	622							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AGGGCAGCACCTGTCTGGATG	0.587																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							59.0	58.0	59.0					19																	15733064		2201	4300	6501			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15733064C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15733064C>T										P98187	CP4F8_HUMAN			0	622	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.587	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		42	159	0	0	0	1	0	42	159				
SETDB1	9869	broad.mit.edu	37	1	150915038	150915038	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150915038G>T	ENST00000271640.5	+	6	737		c.e6-1		SETDB1_ENST00000368969.4_Splice_Site|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Splice_Site|SETDB1_ENST00000368963.1_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTTCTATAGGAACCTTGAG	0.423																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.e6-1		SET domain, bifurcated 1							94.0	92.0	93.0					1																	150915038		2203	4300	6503	SO:0001630	splice_region_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150915038G>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.548-1G>T	1.37:g.150915038G>T						SETDB1_ENST00000368963.1_Splice_Site|SETDB1_ENST00000368969.4_Splice_Site|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Splice_Site		NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	737	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)							A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Splice_Site	SNP	ENST00000271640.5	37		CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970091	0.53614	.	.	ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000368963;ENST00000498193	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7031	0.69168	0.0:0.1458:0.8542:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SETDB1	149181662	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.689000	0.61723	2.906000	0.99361	0.655000	0.94253	.		0.423	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		Intron	38	515	1	0	3.61848e-18	1	4.01023e-18	38	515				
FAT2	2196	broad.mit.edu	37	5	150947892	150947892	+	Missense_Mutation	SNP	C	C	T	rs372731700		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947892C>T	ENST00000261800.5	-	1	613	c.601G>A	c.(601-603)Ggt>Agt	p.G201S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		G -> A (in dbSNP:rs11739693).		epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACCACACCGCTGGTGGGA	0.532																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(601-603)Ggt>Agt		FAT atypical cadherin 2							89.0	81.0	84.0					5																	150947892		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947892C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.601G>A	5.37:g.150947892C>T	ENSP00000261800:p.Gly201Ser						p.G201S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	613	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	201		G -> A (in dbSNP:rs11739693).	Cadherin 2.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.601G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847465	0.91277	.	.	ENSG00000086570	ENST00000261800	D	0.91407	-2.84	5.61	5.61	0.85477	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.97480	0.9175	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98616	1.0665	10	0.87932	D	0	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	201	Q9NYQ8	FAT2_HUMAN	S	201	ENSP00000261800:G201S	ENSP00000261800:G201S	G	-	1	0	FAT2	150928085	1.000000	0.71417	0.186000	0.23195	0.863000	0.49368	7.755000	0.85180	2.643000	0.89663	0.555000	0.69702	GGT		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		44	369	0	0	0	1	0	44	369				
GBP2	2634	broad.mit.edu	37	1	89587545	89587545	+	Silent	SNP	C	C	T	rs140687152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89587545C>T	ENST00000370466.3	-	2	373	c.105G>A	c.(103-105)acG>acA	p.T35T	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	35	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACAGGCTGCGTAATTGCAG	0.527																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(103-105)acG>acA		guanylate binding protein 2, interferon-inducible		C		6,4400	11.4+/-27.6	0,6,2197	158.0	145.0	150.0		105	-6.9	0.0	1	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	GBP2	NM_004120.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		35/592	89587545	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89587545C>T	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.105G>A	1.37:g.89587545C>T							p.T35T	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	2	373	-		Lung NSC(277;0.0908)	35					Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	37	c.105G>A	CCDS719.1																																																																																				0.527	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		133	451	0	0	0	1	0	133	451				
GRAP	10750	broad.mit.edu	37	17	18925281	18925281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18925281C>T	ENST00000284154.5	-	5	1355	c.645G>A	c.(643-645)gtG>gtA	p.V215V	GRAP_ENST00000395635.1_Silent_p.V186V|SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000573099.1_Missense_Mutation_p.C159Y	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	215	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CTCACAGGTGCACGGGCTGCA	0.652																																						ENST00000573099.1																			0				large_intestine(1)|urinary_tract(1)	2						c.(475-477)tGc>tAc		GRB2-related adaptor protein							8.0	11.0	10.0					17																	18925281		2187	4286	6473	SO:0001819	synonymous_variant	10750				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity	g.chr17:18925281C>T	U52518	CCDS11202.1	17p11.2	2013-02-14			ENSG00000154016	ENSG00000154016		"""SH2 domain containing"""	4562	protein-coding gene	gene with protein product		604330				8647802, 8995379	Standard	NM_006613		Approved		uc002guy.3	Q13588	OTTHUMG00000059436	ENST00000284154.5:c.645G>A	17.37:g.18925281C>T						GRAP_ENST00000284154.5_Silent_p.V215V|GRAP_ENST00000395635.1_Silent_p.V186V|SLC5A10_ENST00000317977.6_3'UTR	p.C159Y			Q13588	GRAP_HUMAN			4	546	-	all_cancers(12;0.0183)		0			SH3 2.			Missense_Mutation	SNP	ENST00000284154.5	37	c.476G>A	CCDS11202.1																																																																																				0.652	GRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132176.2	NM_006613		16	73	0	0	0	1	0	16	73				
NOX1	27035	broad.mit.edu	37	X	100117559	100117559	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100117559C>T	ENST00000372966.3	-	6	698	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.V128M|NOX1_ENST00000217885.5_Missense_Mutation_p.V165M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	165	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACATACTCCACTGTCTGTGAA	0.473																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(493-495)Gtg>Atg		NADPH oxidase 1							210.0	189.0	196.0					X																	100117559		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117559C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.493G>A	X.37:g.100117559C>T	ENSP00000362057:p.Val165Met					NOX1_ENST00000372960.4_Missense_Mutation_p.V128M|NOX1_ENST00000217885.5_Missense_Mutation_p.V165M|NOX1_ENST00000372964.1_Intron	p.V165M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			6	698	-			165			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.493G>A	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308253	0.40895	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.96041	-3.8;-3.89;-3.89	4.62	2.63	0.31362	Flavoprotein transmembrane component (1);	0.377590	0.22478	N	0.059521	D	0.92958	0.7759	L	0.45581	1.43	0.26616	N	0.972746	B;P;P	0.41498	0.18;0.708;0.752	B;B;P	0.45913	0.09;0.364;0.497	D	0.86420	0.1754	10	0.36615	T	0.2	-6.3206	7.5402	0.27733	0.3339:0.5205:0.1456:0.0	.	128;165;165	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	M	165;165;128	ENSP00000362057:V165M;ENSP00000217885:V165M;ENSP00000362051:V128M	ENSP00000217885:V165M	V	-	1	0	NOX1	100004215	0.505000	0.26131	0.993000	0.49108	0.984000	0.73092	0.251000	0.18257	1.018000	0.39521	0.600000	0.82982	GTG		0.473	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		232	859	0	0	0	1	0	232	859				
MARCO	8685	broad.mit.edu	37	2	119727762	119727762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119727762G>T	ENST00000327097.4	+	3	407	c.272G>T	c.(271-273)aGc>aTc	p.S91I	MARCO_ENST00000541757.1_Missense_Mutation_p.S13I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	91					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTGAGGACAGCCCGTCCTTC	0.607																																					GBM(8;18 374 7467 11269 32796)	ENST00000541757.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(37-39)aGc>aTc		macrophage receptor with collagenous structure							80.0	79.0	79.0					2																	119727762		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119727762G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.272G>T	2.37:g.119727762G>T	ENSP00000318916:p.Ser91Ile					MARCO_ENST00000327097.4_Missense_Mutation_p.S91I	p.S13I			Q9UEW3	MARCO_HUMAN			4	418	+			91	L -> F (in Ref. 2; AAD41064).				B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.38G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691316	0.30052	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.90324	-2.65;-2.61	4.22	-4.57	0.03421	.	1.340110	0.04576	N	0.394204	T	0.80555	0.4645	N	0.24115	0.695	0.09310	N	1	P	0.35982	0.531	B	0.33690	0.168	T	0.70699	-0.4800	9	.	.	.	.	5.8173	0.18500	0.5132:0.2672:0.2196:0.0	.	91	Q9UEW3	MARCO_HUMAN	I	91;91;13;13	ENSP00000318916:S91I;ENSP00000441769:S13I	.	S	+	2	0	MARCO	119444232	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.076000	0.03420	-1.039000	0.03275	-0.258000	0.10820	AGC		0.607	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		42	330	1	0	2.47872e-24	1	2.8326e-24	42	330				
CCNG2	901	broad.mit.edu	37	4	78082647	78082647	+	Missense_Mutation	SNP	G	G	A	rs34067647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78082647G>A	ENST00000316355.5	+	5	898	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N|CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	181					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAATACTGAGCCTTGATAAA	0.333																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(541-543)aGc>aAc		cyclin G2							51.0	58.0	56.0					4																	78082647		2203	4300	6503	SO:0001583	missense	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78082647G>A	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.542G>A	4.37:g.78082647G>A	ENSP00000315743:p.Ser181Asn					CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N|CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N	p.S181N	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			5	898	+			181					B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	c.542G>A	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789230	0.16258	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.79	1.94	0.25998	.	0.206903	0.64402	N	0.000008	T	0.12305	0.0299	N	0.08118	0	0.35924	D	0.832029	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.25606	-1.0127	10	0.07482	T	0.82	-6.0749	9.1384	0.36888	0.5175:0.0:0.4825:0.0	.	181;181	B4DF25;Q16589	.;CCNG2_HUMAN	N	181	ENSP00000315743:S181N;ENSP00000346379:S181N;ENSP00000424665:S181N;ENSP00000379002:S181N;ENSP00000426476:S181N	ENSP00000315743:S181N	S	+	2	0	CCNG2	78301671	0.987000	0.35691	0.933000	0.37362	0.985000	0.73830	1.740000	0.38228	0.311000	0.23014	-0.345000	0.07892	AGC		0.333	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		52	223	0	0	0	1	0	52	223				
MOV10	4343	broad.mit.edu	37	1	113238174	113238174	+	Missense_Mutation	SNP	G	G	A	rs188207425		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113238174G>A	ENST00000413052.2	+	11	2147	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	MOV10_ENST00000369644.1_Missense_Mutation_p.R530H|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R586H	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	586					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R586L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGGGACATCCGCATGGTACCT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19491	0.001		0.0	False		,,,				2504	0.0					ENST00000369644.1																			1	Substitution - Missense(1)	p.R586L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1588-1590)cGc>cAc		Mov10, Moloney leukemia virus 10, homolog (mouse)							54.0	48.0	50.0					1																	113238174		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113238174G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1757G>A	1.37:g.113238174G>A	ENSP00000399797:p.Arg586His					MOV10_ENST00000357443.2_Missense_Mutation_p.R586H|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.R586H	p.R530H			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	12	2618	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	586					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1589G>A	CCDS853.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.91	2.377101	0.42105	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.67	2.45	0.29901	.	0.688797	0.14861	N	0.294066	T	0.59622	0.2207	L	0.39898	1.24	0.09310	N	0.999996	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.005	T	0.55457	-0.8138	10	0.42905	T	0.14	-5.1003	9.3777	0.38292	0.3334:0.0:0.6666:0.0	.	530;586	Q5JR04;Q9HCE1	.;MOV10_HUMAN	H	586;586;530;586;524	ENSP00000399797:R586H;ENSP00000358659:R586H;ENSP00000358658:R530H;ENSP00000350028:R586H	ENSP00000350028:R586H	R	+	2	0	MOV10	113039697	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	1.012000	0.29924	0.768000	0.33290	0.655000	0.94253	CGC		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		18	136	0	0	0	1	0	18	136				
GPR116	221395	broad.mit.edu	37	6	46836688	46836688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46836688G>A	ENST00000283296.7	-	12	1841	c.1553C>T	c.(1552-1554)aCc>aTc	p.T518I	GPR116_ENST00000265417.7_Missense_Mutation_p.T518I|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000362015.4_Missense_Mutation_p.T518I|GPR116_ENST00000456426.2_Missense_Mutation_p.T376I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	518	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTCCTCGTGGTATAAAATCT	0.418																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1552-1554)aCc>aTc		G protein-coupled receptor 116							108.0	108.0	108.0					6																	46836688		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836688G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1553C>T	6.37:g.46836688G>A	ENSP00000283296:p.Thr518Ile					GPR116_ENST00000362015.4_Missense_Mutation_p.T518I|GPR116_ENST00000456426.2_Missense_Mutation_p.T376I|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.T518I	p.T518I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		12	1841	-			518			Ig-like 3.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1553C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	6.510	0.462255	0.12342	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.22134	2.5;2.5;1.97;2.5	5.47	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.729338	0.12712	N	0.445422	T	0.05090	0.0136	L	0.29908	0.895	0.36252	D	0.853988	P;P;P;P	0.49783	0.544;0.72;0.928;0.72	B;B;B;B	0.40066	0.047;0.235;0.318;0.235	T	0.34601	-0.9822	10	0.13108	T	0.6	-8.4634	8.9	0.35487	0.2453:0.0:0.7547:0.0	.	73;518;376;518	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	I	518;518;518;376;518	ENSP00000283296:T518I;ENSP00000354563:T518I;ENSP00000412866:T376I;ENSP00000265417:T518I	ENSP00000265417:T518I	T	-	2	0	GPR116	46944647	0.669000	0.27502	0.938000	0.37757	0.340000	0.28889	1.419000	0.34793	0.653000	0.30826	0.591000	0.81541	ACC		0.418	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		13	421	0	0	0	1	0	13	421				
NOVA1	4857	broad.mit.edu	37	14	26941524	26941524	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26941524A>C	ENST00000547619.1	-	4	579	c.521T>G	c.(520-522)gTa>gGa	p.V174G	NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000539517.2_Splice_Site			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	177	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGATACTGTACCTGATTAGC	0.453																																						ENST00000547619.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(520-522)gTa>gGa		neuro-oncological ventral antigen 1							227.0	184.0	199.0					14																	26941524		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26941524A>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000547619.1:c.521T>G	14.37:g.26941524A>C	ENSP00000448157:p.Val174Gly					NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000539517.2_Splice_Site	p.V174G			P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	4	579	-			177			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000547619.1	37	c.521T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.02|19.02	3.746807|3.746807	0.69418|0.69418	.|.	.|.	ENSG00000139910|ENSG00000139910	ENST00000539517;ENST00000267422;ENST00000449198;ENST00000549146;ENST00000549571;ENST00000344429|ENST00000547619	.|T	.|0.48522	.|0.81	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66396	.|0.2785	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70044	.|-0.4980	.|6	.|0.87932	.|D	.|0	.|.	16.3782|16.3782	0.83418|0.83418	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|G	-1|174	.|ENSP00000448157:V174G	.|ENSP00000448157:V174G	.|V	-|-	.|2	.|0	NOVA1|NOVA1	26011364|26011364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.165000|7.165000	0.77544|0.77544	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	.|GTA		0.453	NOVA1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000408504.1	NM_006491		22	107	0	0	0	1	0	22	107				
ZNF114	163071	broad.mit.edu	37	19	48785680	48785680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48785680C>T	ENST00000595607.1	+	5	556	c.62C>T	c.(61-63)aCc>aTc	p.T21I	ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I|ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I			Q8NC26	ZN114_HUMAN	zinc finger protein 114	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAGGAGTGGACCCTGCTGGAC	0.512																																						ENST00000595607.1																			0				endometrium(1)|large_intestine(6)|lung(11)	18						c.(61-63)aCc>aTc		zinc finger protein 114							138.0	138.0	138.0					19																	48785680		2203	4300	6503	SO:0001583	missense	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48785680C>T	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.62C>T	19.37:g.48785680C>T	ENSP00000469998:p.Thr21Ile					ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I|ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I	p.T21I			Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	5	556	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	21			KRAB.		A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	c.62C>T	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805445	0.16467	.	.	ENSG00000178150	ENST00000315849	T	0.01787	4.64	2.26	1.16	0.20824	Krueppel-associated box (4);	.	.	.	.	T	0.03608	0.0103	L	0.41961	1.31	0.09310	N	1	D	0.59357	0.985	P	0.55749	0.783	T	0.47394	-0.9121	9	0.39692	T	0.17	.	6.6534	0.22975	0.5111:0.4889:0.0:0.0	.	21	Q8NC26	ZN114_HUMAN	I	21	ENSP00000318898:T21I	ENSP00000318898:T21I	T	+	2	0	ZNF114	53477492	0.001000	0.12720	0.107000	0.21349	0.464000	0.32679	0.005000	0.13129	0.495000	0.27882	0.205000	0.17691	ACC		0.512	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		133	653	0	0	0	1	0	133	653				
SMG1	23049	broad.mit.edu	37	16	18856783	18856783	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18856783T>C	ENST00000446231.2	-	39	6599	c.6187A>G	c.(6187-6189)Aag>Gag	p.K2063E	SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2063					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCCCAGGCTTTGCAGGGTTC	0.428																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(6187-6189)Aag>Gag		SMG1 phosphatidylinositol 3-kinase-related kinase							73.0	68.0	70.0					16																	18856783		1864	4100	5964	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18856783T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6187A>G	16.37:g.18856783T>C	ENSP00000402515:p.Lys2063Glu					SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E	p.K2063E			Q96Q15	SMG1_HUMAN			39	6599	-			2063					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6187A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152266	0.78001	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.79	5.79	0.91817	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.01627	0.0052	L	0.38175	1.15	0.42668	D	0.993502	B;B	0.25809	0.135;0.039	B;B	0.25405	0.06;0.027	T	0.66056	-0.6018	10	0.31617	T	0.26	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	1923;2063	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	E	2063	ENSP00000402515:K2063E;ENSP00000374118:K2063E	ENSP00000374118:K2063E	K	-	1	0	SMG1	18764284	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.008000	0.88588	2.209000	0.71365	0.533000	0.62120	AAG		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		50	211	0	0	0	1	0	50	211				
ANK3	288	broad.mit.edu	37	10	61846505	61846505	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61846505T>C	ENST00000280772.2	-	30	3869	c.3678A>G	c.(3676-3678)tcA>tcG	p.S1226S	ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000503366.1_Silent_p.S1227S|ANK3_ENST00000373827.2_Silent_p.S1220S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1226	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACCTTCTCCTGAGGGCGGGG	0.458																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3676-3678)tcA>tcG		ankyrin 3, node of Ranvier (ankyrin G)							145.0	133.0	137.0					10																	61846505		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61846505T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3678A>G	10.37:g.61846505T>C						ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000373827.2_Silent_p.S1220S|ANK3_ENST00000503366.1_Silent_p.S1227S	p.S1226S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			30	3869	-			1226					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.3678A>G	CCDS7258.1																																																																																				0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		67	339	0	0	0	1	0	67	339				
MAP7D3	79649	broad.mit.edu	37	X	135314112	135314112	+	Missense_Mutation	SNP	G	G	A	rs369779481		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135314112G>A	ENST00000316077.9	-	8	1224	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	MAP7D3_ENST00000370663.5_Missense_Mutation_p.T317M|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.T300M	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	335					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GAATGAGTCCGTGCTCACCTC	0.572													G||||G|||	13|14	0.00344371|0.00370861	0.0|0.0	0.0|0.0	3775|3775	,|,	,|,		14333|14333	0.0109|0.0109		0.0|0.001	False|False		,,,|,,,				2504|2504	0.002|0.002					ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1003-1005)aCg>aTg		MAP7 domain containing 3		G	MET/THR,MET/THR,MET/THR	2,3787		0,2,1607,571	123.0	127.0	125.0		950,899,1004	-8.4	0.0	X		125	0,6655		0,0,2414,1827	no	missense,missense,missense	MAP7D3	NM_001173516.1,NM_001173517.1,NM_024597.3	81,81,81	0,2,4021,2398	AA,AG,GG,G		0.0,0.0528,0.0191	possibly-damaging,possibly-damaging,possibly-damaging	317/859,300/842,335/877	135314112	2,10442	2180	4241	6421	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314112G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1004C>T	X.37:g.135314112G>A	ENSP00000318086:p.Thr335Met					MAP7D3_ENST00000370663.5_Missense_Mutation_p.T317M|MAP7D3_ENST00000370661.1_Missense_Mutation_p.T300M	p.T335M	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1224	-	Acute lymphoblastic leukemia(192;0.000127)		335					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1004C>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	8.091	0.774550	0.16051	5.28E-4	0.0	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	4.19	-8.38	0.00973	.	.	.	.	.	T	0.01489	0.0048	N	0.01168	-0.975	0.09310	N	1	P;B;B;B	0.36282	0.546;0.181;0.234;0.17	B;B;B;B	0.20184	0.027;0.007;0.018;0.028	T	0.47032	-0.9148	9	0.40728	T	0.16	0.0624	1.9415	0.03348	0.3301:0.2269:0.3298:0.1132	.	317;294;335;300	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	M	300;335;317;294	ENSP00000359695:T300M;ENSP00000318086:T335M;ENSP00000359697:T317M;ENSP00000359694:T294M	ENSP00000318086:T335M	T	-	2	0	MAP7D3	135141778	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.966000	0.03825	-2.262000	0.00690	-1.498000	0.00962	ACG		0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			173	590	0	0	0	1	0	173	590				
FSTL3	10272	broad.mit.edu	37	19	677877	677877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:677877C>T	ENST00000166139.4	+	2	221	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	63	TB.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCTGTGCCTCCGGCAACA	0.647			T	CCND1	B-CLL																																	ENST00000166139.4				Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0											c.(187-189)gcC>gcT		follistatin-like 3 (secreted glycoprotein)							101.0	85.0	91.0					19																	677877		2203	4300	6503	SO:0001819	synonymous_variant	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:677877C>T	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.189C>T	19.37:g.677877C>T							p.A63A	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	221	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	63			TB.		A8K7E3	Silent	SNP	ENST00000166139.4	37	c.189C>T	CCDS12040.1																																																																																				0.647	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	NM_005860		96	399	0	0	0	1	0	96	399				
ZNF701	55762	broad.mit.edu	37	19	53085712	53085712	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53085712A>G	ENST00000540331.1	+	5	823	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E|ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGCTGGAAACAAACCTATTAA	0.408																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(598-600)Aaa>Gaa		zinc finger protein 701							117.0	116.0	116.0					19																	53085712		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085712A>G	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.598A>G	19.37:g.53085712A>G	ENSP00000444339:p.Lys200Glu					ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E	p.K200E	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	823	+			134					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.598A>G	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964412	0.34659	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05081	3.5;3.52;3.52	1.81	0.721	0.18219	.	.	.	.	.	T	0.24624	0.0597	M	0.91717	3.235	0.09310	N	1	P;D	0.63880	0.828;0.993	B;D	0.70935	0.44;0.971	T	0.07908	-1.0748	9	0.87932	D	0	.	3.7202	0.08453	0.7809:0.0:0.2191:0.0	.	200;134	F5GZM6;Q9NV72	.;ZN701_HUMAN	E	134;200;200	ENSP00000375662:K134E;ENSP00000301093:K200E;ENSP00000444339:K200E	ENSP00000301093:K200E	K	+	1	0	ZNF701	57777524	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	2.404000	0.44539	-0.003000	0.14444	0.254000	0.18369	AAA		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		36	753	0	0	0	1	0	36	753				
ENTPD4	9583	broad.mit.edu	37	8	23305394	23305394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23305394G>T	ENST00000358689.4	-	4	446	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M|ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	71					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACTCGTGCCAGGTACCTTGTA	0.418																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(211-213)Ctg>Atg		ectonucleoside triphosphate diphosphohydrolase 4							165.0	126.0	140.0					8																	23305394		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23305394G>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.211C>A	8.37:g.23305394G>T	ENSP00000351520:p.Leu71Met					ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M|ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M	p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	4	446	-		Prostate(55;0.114)	71					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.211C>A	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959102	0.53400	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T	0.16457	2.34;2.35;2.36	5.81	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.59436	1.845	0.49213	D	0.999767	D;D;D;D	0.71674	0.997;0.992;0.998;0.997	D;D;D;D	0.74674	0.965;0.945;0.984;0.973	T	0.01205	-1.1419	10	0.38643	T	0.18	-15.7581	8.388	0.32512	0.4174:0.0:0.5826:0.0	.	71;71;71;71	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	M	71;71;71;37	ENSP00000348536:L71M;ENSP00000351520:L71M;ENSP00000408573:L71M	ENSP00000348536:L71M	L	-	1	2	ENTPD4	23361339	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	0.772000	0.26647	0.127000	0.18452	-0.781000	0.03364	CTG		0.418	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		41	363	1	0	2.2871e-25	1	2.62398e-25	41	363				
JMJD1C	221037	broad.mit.edu	37	10	64937606	64937606	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64937606C>A	ENST00000399262.2	-	23	7313	c.7095G>T	c.(7093-7095)aaG>aaT	p.K2365N	JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2365	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTCAAATTTCTTGAGAATTC	0.383																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(7093-7095)aaG>aaT		jumonji domain containing 1C							95.0	87.0	89.0					10																	64937606		1828	4077	5905	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64937606C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7095G>T	10.37:g.64937606C>A	ENSP00000382204:p.Lys2365Asn					JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N	p.K2365N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			23	7313	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2365			JmjC.		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.7095G>T	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077728|4.077728	0.76528|0.76528	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	T;T;T|.	0.58940|.	0.64;0.3;0.64|.	6.05|6.05	5.15|5.15	0.70609|0.70609	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68393|0.68393	0.2996|0.2996	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;B|.	0.89917|.	1.0;1.0;0.367|.	D;D;B|.	0.91635|.	0.999;0.999;0.35|.	T|T	0.66842|0.66842	-0.5821|-0.5821	10|5	0.72032|.	D|.	0.01|.	-14.9126|-14.9126	14.7894|14.7894	0.69827|0.69827	0.0:0.9308:0.0:0.0692|0.0:0.9308:0.0:0.0692	.|.	2183;2365;2183|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	N|I	2365;2128;2183|912	ENSP00000382204:K2365N;ENSP00000384990:K2128N;ENSP00000444682:K2183N|.	ENSP00000382204:K2365N|.	K|R	-|-	3|2	2|0	JMJD1C|JMJD1C	64607612|64607612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.768000|1.768000	0.38511|0.38511	1.576000|1.576000	0.49790|0.49790	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.383	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		29	115	1	0	1.39806e-14	1	1.52044e-14	29	115				
CCDC82	79780	broad.mit.edu	37	11	96092228	96092228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96092228C>T	ENST00000278520.5	-	8	1923	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	499										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGTTCATCTTCAACTTCTTCT	0.348																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1495-1497)Gaa>Aaa		coiled-coil domain containing 82							181.0	176.0	178.0					11																	96092228		2200	4298	6498	SO:0001583	missense	79780						protein binding	g.chr11:96092228C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1495G>A	11.37:g.96092228C>T	ENSP00000278520:p.Glu499Lys					CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K	p.E499K			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	8	1923	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	499					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1495G>A	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100002	0.20552	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.24908	1.83;1.83;1.83	5.78	4.86	0.63082	.	0.181349	0.46758	N	0.000262	T	0.25419	0.0618	L	0.54323	1.7	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.13575	-1.0504	10	0.27082	T	0.32	-12.0923	13.1438	0.59450	0.0:0.8154:0.116:0.0686	.	499	Q8N4S0	CCD82_HUMAN	K	499	ENSP00000278520:E499K;ENSP00000444010:E499K;ENSP00000397156:E499K	ENSP00000278520:E499K	E	-	1	0	CCDC82	95731876	0.061000	0.20836	0.132000	0.22025	0.707000	0.40811	1.190000	0.32126	0.919000	0.36945	-0.797000	0.03246	GAA		0.348	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		106	403	0	0	0	1	0	106	403				
GRN	2896	broad.mit.edu	37	17	42429451	42429451	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429451T>C	ENST00000053867.3	+	11	1310	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	GRN_ENST00000589265.1_Silent_p.C259C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	416					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGGCAGTGTCAGCGAGGAA	0.642																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1246-1248)tgT>tgC		granulin							62.0	62.0	62.0					17																	42429451		2203	4300	6503	SO:0001819	synonymous_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429451T>C	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1248T>C	17.37:g.42429451T>C						GRN_ENST00000589265.1_Silent_p.C259C	p.C416C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	11	1310	+		Prostate(33;0.0181)	416					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	c.1248T>C	CCDS11483.1																																																																																				0.642	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		74	335	0	0	0	1	0	74	335				
PKDREJ	10343	broad.mit.edu	37	22	46655796	46655796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655796G>A	ENST00000253255.5	-	1	3423	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1142					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCCAGCTGCCGCCTAGCCCTT	0.507																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3424-3426)Cgg>Tgg		polycystin (PKD) family receptor for egg jelly							185.0	160.0	169.0					22																	46655796		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655796G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3424C>T	22.37:g.46655796G>A	ENSP00000253255:p.Arg1142Trp						p.R1142W	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3423	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1142					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3424C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865749	0.32977	.	.	ENSG00000130943	ENST00000253255	T	0.37915	1.17	5.23	4.15	0.48705	GPS domain (1);	1.823990	0.02647	N	0.105979	T	0.57227	0.2039	M	0.64997	1.995	0.09310	N	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.40040	-0.9584	10	0.62326	D	0.03	-22.7006	4.9462	0.13991	0.0848:0.1362:0.6207:0.1583	.	1142	Q9NTG1	PKDRE_HUMAN	W	1142	ENSP00000253255:R1142W	ENSP00000253255:R1142W	R	-	1	2	PKDREJ	45034460	0.009000	0.17119	0.820000	0.32676	0.004000	0.04260	1.203000	0.32284	2.623000	0.88846	0.561000	0.74099	CGG		0.507	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		128	581	0	0	0	1	0	128	581				
OVGP1	5016	broad.mit.edu	37	1	111966237	111966237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111966237G>A	ENST00000369732.3	-	5	466	c.411C>T	c.(409-411)gaC>gaT	p.D137D	OVGP1_ENST00000540696.1_Silent_p.D77D|OVGP1_ENST00000481495.1_5'Flank	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	137					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAAGAAAAGGTCAAGACCAT	0.433																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(409-411)gaC>gaT		oviductal glycoprotein 1, 120kDa							110.0	99.0	103.0					1																	111966237		2203	4300	6503	SO:0001819	synonymous_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111966237G>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.411C>T	1.37:g.111966237G>A						OVGP1_ENST00000540696.1_Silent_p.D77D	p.D137D	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	5	466	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	137					A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	c.411C>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.982861	0.02180	.	.	ENSG00000085465	ENST00000434331	.	.	.	4.54	1.62	0.23740	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49322	-0.8952	5	0.52906	T	0.07	-34.5513	8.1245	0.30990	0.3582:0.0:0.6418:0.0	.	.	.	.	I	7	.	ENSP00000397065:T7I	T	-	2	0	OVGP1	111767760	1.000000	0.71417	0.996000	0.52242	0.049000	0.14656	0.627000	0.24506	0.256000	0.21614	-1.094000	0.02160	ACC		0.433	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		51	257	0	0	0	1	0	51	257				
FBXO38	81545	broad.mit.edu	37	5	147807242	147807242	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147807242A>G	ENST00000340253.5	+	15	2553	c.2385A>G	c.(2383-2385)gaA>gaG	p.E795E	FBXO38_ENST00000394370.3_Silent_p.E795E|FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	795					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGAGGAACGTCCTTCAA	0.572																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(2383-2385)gaA>gaG		F-box protein 38							54.0	48.0	50.0					5																	147807242		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147807242A>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2385A>G	5.37:g.147807242A>G						FBXO38_ENST00000394370.3_Silent_p.E795E|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron	p.E795E			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2553	+			795					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.2385A>G																																																																																					0.572	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		6	236	0	0	0	1	0	6	236				
CFAP43	80217	broad.mit.edu	37	10	105948089	105948089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105948089C>T	ENST00000278064.2	-	13	1744	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	WDR96_ENST00000357060.3_Silent_p.S542S|WDR96_ENST00000428666.1_Silent_p.S543S																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTCTGGAAGCGAGGAAAGCA	0.463																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1624-1626)tcG>tcA		WD repeat domain 96							165.0	135.0	145.0					10																	105948089		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105948089C>T																												ENST00000278064.2:c.1419G>A	10.37:g.105948089C>T						WDR96_ENST00000428666.1_Silent_p.S543S|WDR96_ENST00000278064.2_Silent_p.S473S	p.S542S	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			13	1741	-			542						Silent	SNP	ENST00000278064.2	37	c.1626G>A																																																																																					0.463	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			55	214	0	0	0	1	0	55	214				
AP1G2	8906	broad.mit.edu	37	14	24033572	24033572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033572C>T	ENST00000308724.5	-	9	1702	c.947G>A	c.(946-948)cGc>cAc	p.R316H	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	316					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GAGTAGGAAGCGACCAAGAAT	0.532																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(946-948)cGc>cAc		adaptor-related protein complex 1, gamma 2 subunit							150.0	121.0	131.0					14																	24033572		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033572C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.947G>A	14.37:g.24033572C>T	ENSP00000312442:p.Arg316His					RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H	p.R316H	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	9	1702	-	all_cancers(95;0.000251)		316					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.947G>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434074	0.83776	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.28454	1.61;1.61	4.38	4.38	0.52667	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	H	0.94886	3.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76868	-0.2800	10	0.87932	D	0	-6.1322	14.4989	0.67707	0.0:1.0:0.0:0.0	.	316;171	O75843;Q86V28	AP1G2_HUMAN;.	H	316;316;85;171	ENSP00000312442:R316H;ENSP00000380309:R316H	ENSP00000312442:R316H	R	-	2	0	AP1G2	23103412	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.751000	0.62169	2.269000	0.75478	0.557000	0.71058	CGC		0.532	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		46	300	0	0	0	1	0	46	300				
PHACTR1	221692	broad.mit.edu	37	6	13206106	13206106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206106C>T	ENST00000379350.1	+	7	853	c.724C>T	c.(724-726)Cca>Tca	p.P242S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P97S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P242S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	242					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCGCTACCTCCAAAGAAAGT	0.592																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(724-726)Cca>Tca		phosphatase and actin regulator 1							58.0	63.0	61.0					6																	13206106		1965	4151	6116	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206106C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.724C>T	6.37:g.13206106C>T	ENSP00000368655:p.Pro242Ser					PHACTR1_ENST00000457702.2_Missense_Mutation_p.P97S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P242S|PHACTR1_ENST00000379345.2_Intron	p.P242S			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	853	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	242					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.724C>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.48201	0.82;1.04;1.03	5.22	5.22	0.72569	.	0.098175	0.64402	D	0.000001	T	0.44808	0.1311	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.986;0.994;0.998	T	0.16660	-1.0395	10	0.11485	T	0.65	-6.6846	17.938	0.89018	0.0:1.0:0.0:0.0	.	311;242;242	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	S	242;242;311;97	ENSP00000368655:P242S;ENSP00000329880:P242S;ENSP00000397669:P97S	ENSP00000329880:P242S	P	+	1	0	PHACTR1	13314085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.310000	0.65780	2.700000	0.92200	0.561000	0.74099	CCA		0.592	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		44	327	0	0	0	1	0	44	327				
HERC2P3	283755	broad.mit.edu	37	15	20643955	20643955	+	RNA	SNP	C	C	T	rs373244569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20643955C>T	ENST00000428453.1	-	0	3504							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAAGTCATCGTGCACAACT	0.577													.|||	1	0.000199681	0.0008	0.0	5008	,	,		26878	0.0		0.0	False		,,,				2504	0.0					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35										C		2,4360		0,2,2179	16.0	13.0	14.0			2.9	1.0	15		14	0,8456		0,0,4228	no	intergenic				0,2,6407	TT,TC,CC		0.0,0.0459,0.0156			20643955	2,12816	2181	4228	6409			0							g.chr15:20643955C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643955C>T														0	3504	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.577	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		31	225	0	0	0	1	0	31	225				
WNK4	65266	broad.mit.edu	37	17	40939316	40939316	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40939316T>C	ENST00000246914.5	+	7	1518	c.1497T>C	c.(1495-1497)tgT>tgC	p.C499C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	499					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTGGTCTGTGAAGCCGATT	0.577																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1495-1497)tgT>tgC		WNK lysine deficient protein kinase 4							50.0	51.0	50.0					17																	40939316		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939316T>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1497T>C	17.37:g.40939316T>C						WNK4_ENST00000587705.1_3'UTR	p.C499C	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1518	+		Breast(137;0.000143)	499					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.1497T>C	CCDS11439.1																																																																																				0.577	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			39	214	0	0	0	1	0	39	214				
DNM2	1785	broad.mit.edu	37	19	10893745	10893745	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10893745G>A	ENST00000355667.6	+	6	878	c.798G>A	c.(796-798)cgG>cgA	p.R266R	DNM2_ENST00000585892.1_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R|DNM2_ENST00000389253.4_Silent_p.R266R|MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000314646.5_Silent_p.R266R|DNM2_ENST00000359692.6_Silent_p.R266R	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	266	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGGCCTACCGGCACATGGCCG	0.592			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(796-798)cgG>cgA		dynamin 2							76.0	56.0	63.0					19																	10893745		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893745G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.798G>A	19.37:g.10893745G>A						DNM2_ENST00000585892.1_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R|DNM2_ENST00000355667.6_Silent_p.R266R|DNM2_ENST00000359692.6_Silent_p.R266R|DNM2_ENST00000389253.4_Silent_p.R266R	p.R266R			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	962	+			266					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.798G>A	CCDS45968.1																																																																																				0.592	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		61	296	0	0	0	1	0	61	296				
ING1	3621	broad.mit.edu	37	13	111366616	111366616	+	5'Flank	SNP	C	C	T	rs201188640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111366616C>T	ENST00000375774.3	+	0	0				ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Silent_p.I40I|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCGGGAGATCGACGCGAAAT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		7862	0.001		0.0	False		,,,				2504	0.0					ENST00000333219.7																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(118-120)atC>atT		inhibitor of growth family, member 1							64.0	51.0	55.0					13																	111366616		2203	4300	6503	SO:0001631	upstream_gene_variant	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111366616C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346		13.37:g.111366616C>T	Exception_encountered					ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron	p.I40I	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	992	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		0					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	c.120C>T	CCDS9517.1																																																																																				0.672	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		25	155	0	0	0	1	0	25	155				
ARHGAP21	57584	broad.mit.edu	37	10	24909977	24909977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909977C>A	ENST00000396432.2	-	9	1333	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D70Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	282					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATAACAAATCTACAACCTTC	0.418																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(847-849)Gat>Tat		Rho GTPase activating protein 21							107.0	95.0	99.0					10																	24909977		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909977C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.847G>T	10.37:g.24909977C>A	ENSP00000379709:p.Asp283Tyr					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D70Y	p.D283Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1333	-			282					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.847G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723954	0.68959	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.58797	2.27;2.41;0.31;0.33	5.35	5.35	0.76521	.	0.187394	0.49916	D	0.000138	T	0.74168	0.3681	M	0.63428	1.95	0.54753	D	0.999983	D;D	0.67145	0.996;0.966	D;P	0.66716	0.946;0.73	T	0.76132	-0.3071	10	0.87932	D	0	.	19.4376	0.94804	0.0:1.0:0.0:0.0	.	273;282	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Y	283;272;70;273;283;118	ENSP00000379709:D283Y;ENSP00000365604:D70Y;ENSP00000365592:D273Y;ENSP00000405018:D283Y	ENSP00000365604:D70Y	D	-	1	0	ARHGAP21	24949983	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	3.021000	0.49651	2.686000	0.91538	0.650000	0.86243	GAT		0.418	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		9	450	1	0	6.40141e-05	1	6.5221e-05	9	450				
EPC2	26122	broad.mit.edu	37	2	149528924	149528924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528924C>T	ENST00000258484.6	+	10	1722	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	563					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCATCTGTAGCTTTATTGAAC	0.368																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1687-1689)gCt>gTt		enhancer of polycomb homolog 2 (Drosophila)							127.0	121.0	123.0					2																	149528924		1870	4098	5968	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528924C>T	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1688C>T	2.37:g.149528924C>T	ENSP00000258484:p.Ala563Val						p.A563V	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1722	+			563					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1688C>T	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055286	0.55325	.	.	ENSG00000135999	ENST00000258484	T	0.17054	2.3	5.34	5.34	0.76211	.	0.178765	0.49305	D	0.000151	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.25257	-1.0137	10	0.28530	T	0.3	-3.0814	19.4043	0.94642	0.0:1.0:0.0:0.0	.	563	Q52LR7	EPC2_HUMAN	V	563	ENSP00000258484:A563V	ENSP00000258484:A563V	A	+	2	0	EPC2	149245394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.161000	0.58170	2.646000	0.89796	0.563000	0.77884	GCT		0.368	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		87	514	0	0	0	1	0	87	514				
RHD	6007	broad.mit.edu	37	1	25628130	25628130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25628130G>T	ENST00000328664.4	+	5	909	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	RHD_ENST00000454452.2_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	252						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGTGGTGACAGCCATCTCAGG	0.547																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(754-756)Gcc>Tcc		Rh blood group, D antigen							181.0	139.0	154.0					1																	25628130		2128	3764	5892	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25628130G>T	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.754G>T	1.37:g.25628130G>T	ENSP00000331871:p.Ala252Ser					RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000454452.2_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S|RHD_ENST00000357542.4_Missense_Mutation_p.A252S	p.A252S	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	909	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	252					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.754G>T	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.848895	0.32699	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	3.8	3.8	0.43715	Ammonium transporter AmtB-like (3);	0.112422	0.64402	D	0.000013	T	0.37128	0.0992	L	0.35723	1.085	0.48901	D	0.999723	D;P;D;P;P;D;P;P	0.69078	0.96;0.828;0.997;0.828;0.928;0.979;0.932;0.72	P;P;D;P;P;P;P;P	0.79108	0.764;0.58;0.992;0.654;0.687;0.87;0.859;0.654	T	0.06516	-1.0822	10	0.39692	T	0.17	-11.8312	11.213	0.48810	0.0:0.0:1.0:0.0	.	252;252;252;252;252;252;252;252	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	S	252	ENSP00000331871:A252S;ENSP00000413849:A252S;ENSP00000339577:A252S;ENSP00000350150:A252S;ENSP00000396420:A252S;ENSP00000399640:A252S	ENSP00000331871:A252S	A	+	1	0	RHD	25500717	1.000000	0.71417	0.479000	0.27329	0.022000	0.10575	2.282000	0.43461	1.671000	0.50874	0.184000	0.17185	GCC		0.547	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		24	843	1	0	7.07758e-08	1	7.37026e-08	24	843				
PRB3	5544	broad.mit.edu	37	12	11420871	11420871	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11420871T>C	ENST00000279573.7	-	3	447	c.312A>G	c.(310-312)ccA>ccG	p.P104P	PRB3_ENST00000381842.3_Silent_p.P104P|PRB3_ENST00000538488.1_Silent_p.P104P|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	104	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCCTCCTTGTGGGGGTTGTC	0.637																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							146.0	179.0	168.0					12																	11420871		2031	4209	6240	SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420871T>C			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.312A>G	12.37:g.11420871T>C						PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	349	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.637	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		378	1640	0	0	0	1	0	378	1640				
TLDC2	140711	broad.mit.edu	37	20	35517697	35517697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35517697G>A	ENST00000217320.3	+	6	600	c.556G>A	c.(556-558)Gga>Aga	p.G186R	TLDC2_ENST00000602922.1_Missense_Mutation_p.G186R	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	186	TLD.																GTTCCGCGGGGGAAGCTCCCC	0.617																																						ENST00000217320.3																			0											c.(556-558)Gga>Aga		TBC/LysM-associated domain containing 2							91.0	80.0	84.0					20																	35517697		2203	4300	6503	SO:0001583	missense	140711							g.chr20:35517697G>A	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.556G>A	20.37:g.35517697G>A	ENSP00000217320:p.Gly186Arg					TLDC2_ENST00000602922.1_Missense_Mutation_p.G186R	p.G186R	NM_080628.1	NP_542195.1					6	600	+								B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	c.556G>A	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	G	0.509	-0.867492	0.02590	.	.	ENSG00000101342	ENST00000217320	T	0.40225	1.04	5.41	4.46	0.54185	TLDc (2);	0.113706	0.64402	N	0.000012	T	0.18087	0.0434	N	0.04275	-0.24	0.39126	D	0.96176	B	0.02656	0.0	B	0.09377	0.004	T	0.14090	-1.0485	10	0.02654	T	1	-7.3498	11.9132	0.52751	0.0819:0.0:0.9181:0.0	.	186	A0PJX2	CT118_HUMAN	R	186	ENSP00000217320:G186R	ENSP00000217320:G186R	G	+	1	0	C20orf118	34951111	0.933000	0.31639	0.830000	0.32933	0.180000	0.23129	1.651000	0.37302	1.275000	0.44379	0.655000	0.94253	GGA		0.617	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		13	421	0	0	0	1	0	13	421				
CCDC129	223075	broad.mit.edu	37	7	31682321	31682321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682321G>T	ENST00000407970.3	+	11	1375	c.1337G>T	c.(1336-1338)aGt>aTt	p.S446I	CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I|CCDC129_ENST00000319386.3_Missense_Mutation_p.S298I|CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	446										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAGCCAGAGTCCTGCTGAG	0.493																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(892-894)aGt>aTt		coiled-coil domain containing 129							60.0	54.0	56.0					7																	31682321		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682321G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1337G>T	7.37:g.31682321G>T	ENSP00000384416:p.Ser446Ile					CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I|CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I|CCDC129_ENST00000407970.3_Missense_Mutation_p.S446I	p.S298I			Q6ZRS4	CC129_HUMAN			11	1886	+			446					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.893G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976069	0.53720	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.29397	1.57;2.17;2.16;1.91	5.85	4.05	0.47172	.	0.307115	0.28815	N	0.014044	T	0.48502	0.1503	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.89917	1.0;0.99;0.99;0.996	D;P;P;P	0.70716	0.97;0.868;0.79;0.787	T	0.34229	-0.9837	10	0.87932	D	0	-19.9654	8.1795	0.31302	0.1767:0.0:0.8233:0.0	.	472;456;446;298	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	298;446;472;456;354	ENSP00000313062:S298I;ENSP00000384416:S446I;ENSP00000395835:S472I;ENSP00000387214:S354I	ENSP00000313062:S298I	S	+	2	0	CCDC129	31648846	0.001000	0.12720	0.008000	0.14137	0.017000	0.09413	0.635000	0.24629	1.487000	0.48415	0.585000	0.79938	AGT		0.493	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		20	215	1	0	3.51602e-12	1	3.76992e-12	20	215				
ARPC1A	10552	broad.mit.edu	37	7	98946483	98946483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98946483G>A	ENST00000262942.5	+	5	525	c.401G>A	c.(400-402)aGc>aAc	p.S134N	ARPC1A_ENST00000432884.2_Missense_Mutation_p.S87N	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	134					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTGGGTGAGCAAGCACATT	0.463																																						ENST00000432884.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(259-261)aGc>aAc		actin related protein 2/3 complex, subunit 1A, 41kDa							128.0	109.0	116.0					7																	98946483		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98946483G>A	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.401G>A	7.37:g.98946483G>A	ENSP00000262942:p.Ser134Asn					ARPC1A_ENST00000262942.5_Missense_Mutation_p.S134N	p.S87N			Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	721	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		134					A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	c.260G>A	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056792	0.76074	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66460	-0.21;-0.21	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	H	0.95151	3.63	0.80722	D	1	D;D	0.64830	0.994;0.985	D;D	0.68943	0.961;0.95	D	0.90208	0.4262	10	0.56958	D	0.05	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	129;134	Q53GB6;Q92747	.;ARC1A_HUMAN	N	87;134	ENSP00000408578:S87N;ENSP00000262942:S134N	ENSP00000262942:S134N	S	+	2	0	ARPC1A	98784419	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.835000	0.99442	2.646000	0.89796	0.591000	0.81541	AGC		0.463	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		13	349	0	0	0	1	0	13	349				
C1orf141	400757	broad.mit.edu	37	1	67559028	67559028	+	Missense_Mutation	SNP	G	G	A	rs563154808	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67559028G>A	ENST00000371007.2	-	8	972	c.863C>T	c.(862-864)gCg>gTg	p.A288V	C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V|C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	288										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTGTGGCCCGCTTTAAAAGA	0.323													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15768	0.0		0.0	False		,,,				2504	0.001					ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(862-864)gCg>gTg		chromosome 1 open reading frame 141							89.0	90.0	90.0					1																	67559028		2203	4299	6502	SO:0001583	missense	400757							g.chr1:67559028G>A	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.863C>T	1.37:g.67559028G>A	ENSP00000360046:p.Ala288Val					C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V|C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V	p.A288V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			8	972	-			288					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.863C>T	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	0.326	-0.958916	0.02267	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.25250	1.81;1.81;1.81	4.86	-4.35	0.03656	.	3.875600	0.00807	N	0.001460	T	0.01730	0.0055	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.02654	T	1	4.6833	3.9217	0.09247	0.4152:0.0:0.3258:0.2589	.	288	Q5JVX7	CA141_HUMAN	V	288	ENSP00000360046:A288V;ENSP00000360045:A288V;ENSP00000444018:A288V	ENSP00000360045:A288V	A	-	2	0	C1orf141	67331616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	-0.927000	0.03766	-1.456000	0.01031	GCG		0.323	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		52	435	0	0	0	1	0	52	435				
MARK4	57787	broad.mit.edu	37	19	45805761	45805761	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805761C>A	ENST00000262891.4	+	17	2383	c.2052C>A	c.(2050-2052)gcC>gcA	p.A684A	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	684					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCAGCCGCCCGCTGCCGCT	0.736																																						ENST00000262891.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2050-2052)gcC>gcA		MAP/microtubule affinity-regulating kinase 4							7.0	10.0	9.0					19																	45805761		687	1584	2271	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805761C>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.2052C>A	19.37:g.45805761C>A						MARK4_ENST00000300843.4_3'UTR	p.A684A	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	17	2383	+		all_neural(266;0.224)|Ovarian(192;0.231)	684					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.2052C>A	CCDS56097.1																																																																																				0.736	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		19	490	1	0	3.32936e-07	1	3.45006e-07	19	490				
KIF19	124602	broad.mit.edu	37	17	72339244	72339244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72339244C>T	ENST00000389916.4	+	5	539	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	134	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCTTCCGTGCCATCGAGGAG	0.592																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(400-402)gCc>gTc		kinesin family member 19							100.0	77.0	85.0					17																	72339244		2203	4300	6503	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72339244C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.401C>T	17.37:g.72339244C>T	ENSP00000374566:p.Ala134Val						p.A134V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			5	539	+			134			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.401C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274337	0.59649	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75260	-0.65;-0.92	5.48	4.51	0.55191	Kinesin, motor domain (4);	.	.	.	.	T	0.74390	0.3710	L	0.33137	0.985	0.58432	D	0.999995	P;D;P;P	0.60575	0.943;0.988;0.611;0.611	P;P;B;B	0.59643	0.811;0.861;0.219;0.408	T	0.69617	-0.5097	9	0.17369	T	0.5	.	13.3003	0.60321	0.0:0.9221:0.0:0.0779	.	134;134;134;134	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	134	ENSP00000449134:A134V;ENSP00000374566:A134V	ENSP00000374566:A134V	A	+	2	0	KIF19	69850839	1.000000	0.71417	0.943000	0.38184	0.254000	0.26022	5.590000	0.67530	1.342000	0.45619	-0.265000	0.10407	GCC		0.592	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		8	146	0	0	0	1	0	8	146				
KRT74	121391	broad.mit.edu	37	12	52964527	52964527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964527C>T	ENST00000305620.2	-	5	981	c.934G>A	c.(934-936)Gct>Act	p.A312T	KRT74_ENST00000549343.1_Missense_Mutation_p.A312T	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	312	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGGACCTCAGCGATGATGCTG	0.582																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(934-936)Gct>Act		keratin 74							127.0	97.0	107.0					12																	52964527		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52964527C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.934G>A	12.37:g.52964527C>T	ENSP00000307240:p.Ala312Thr					KRT74_ENST00000305620.2_Missense_Mutation_p.A312T	p.A312T			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	5	972	-			312			Coil 2.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.934G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.044029	0.19748	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.89343	-2.5;-2.5	4.49	-5.18	0.02840	Filament (1);	1.291780	0.05733	N	0.599964	D	0.86948	0.6056	M	0.83223	2.63	0.09310	N	1	B	0.21606	0.058	B	0.18263	0.021	T	0.72659	-0.4226	10	0.72032	D	0.01	.	5.0395	0.14452	0.0934:0.2911:0.0922:0.5233	.	312	Q7RTS7	K2C74_HUMAN	T	312	ENSP00000447447:A312T;ENSP00000307240:A312T	ENSP00000307240:A312T	A	-	1	0	KRT74	51250794	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.364000	0.02590	-1.384000	0.02103	-0.182000	0.12963	GCT		0.582	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		33	258	0	0	0	1	0	33	258				
PDGFRA	5156	broad.mit.edu	37	4	55156639	55156639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156639G>A	ENST00000257290.5	+	22	3371	c.3040G>A	c.(3040-3042)Gct>Act	p.A1014T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1014					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A1014_S1016delADS(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAGACTGAGCGCTGACAGTGG	0.557			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		2	Deletion - In frame(2)	p.A1014_S1016delADS(2)	liver(2)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(3040-3042)Gct>Act		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						189.0	156.0	167.0					4																	55156639		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156639G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3040G>A	4.37:g.55156639G>A	ENSP00000257290:p.Ala1014Thr	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	p.A1014T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3371	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1014					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.3040G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123092	0.56613	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77229	-1.08;-0.9	5.93	5.08	0.68730	.	0.000000	0.31976	U	0.006774	T	0.60792	0.2296	L	0.36672	1.1	0.80722	D	1	P	0.40360	0.714	B	0.24541	0.054	T	0.62058	-0.6934	10	0.11182	T	0.66	.	14.5376	0.67971	0.0697:0.0:0.9303:0.0	.	1014	P16234	PGFRA_HUMAN	T	774;1014	ENSP00000423325:A774T;ENSP00000257290:A1014T	ENSP00000423325:A774T	A	+	1	0	FIP1L1;PDGFRA	54851396	1.000000	0.71417	0.854000	0.33618	0.934000	0.57294	5.717000	0.68446	2.814000	0.96858	0.563000	0.77884	GCT		0.557	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		104	446	0	0	0	1	0	104	446				
SLC17A5	26503	broad.mit.edu	37	6	74325115	74325115	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74325115G>T	ENST00000355773.5	-	8	1302	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	345					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTTGACCAGACAGGATCAT	0.358																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1033-1035)tCt>tAt		solute carrier family 17 (acidic sugar transporter), member 5							100.0	94.0	96.0					6																	74325115		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74325115G>T	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1034C>A	6.37:g.74325115G>T	ENSP00000348019:p.Ser345Tyr					SLC17A5_ENST00000393019.3_3'UTR	p.S345Y	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			8	1302	-			345					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.1034C>A	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627768	0.46944	.	.	ENSG00000119899	ENST00000355773	T	0.59364	0.27	4.83	3.94	0.45596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372016	0.29767	N	0.011245	T	0.57799	0.2078	L	0.51422	1.61	0.80722	D	1	P;P	0.51791	0.843;0.948	P;P	0.60345	0.873;0.815	T	0.61382	-0.7074	10	0.51188	T	0.08	.	14.6465	0.68764	0.0:0.1519:0.8481:0.0	.	407;345	E1P537;Q9NRA2	.;S17A5_HUMAN	Y	345	ENSP00000348019:S345Y	ENSP00000348019:S345Y	S	-	2	0	SLC17A5	74381836	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.192000	0.58378	0.980000	0.38523	0.561000	0.74099	TCT		0.358	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			50	248	1	0	6.7651e-33	1	8.0037e-33	50	248				
ADAD1	132612	broad.mit.edu	37	4	123302264	123302264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123302264C>T	ENST00000296513.2	+	4	475	c.290C>T	c.(289-291)cCt>cTt	p.P97L	ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L|ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	97	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGATAAATCCTGTGTCAGCC	0.368																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(289-291)cCt>cTt		adenosine deaminase domain containing 1 (testis-specific)							92.0	101.0	98.0					4																	123302264		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302264C>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.290C>T	4.37:g.123302264C>T	ENSP00000296513:p.Pro97Leu					ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L	p.P97L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	475	+			97			DRBM.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.290C>T	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278034	0.80692	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.23	4.37	0.52481	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.058440	0.64402	D	0.000001	D	0.88897	0.6562	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	D	0.90180	0.4242	10	0.87932	D	0	-17.469	13.1832	0.59666	0.0:0.9193:0.0:0.0807	.	97;97	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	97;97;97;97;79	ENSP00000390510:P97L;ENSP00000296513:P97L;ENSP00000397254:P97L;ENSP00000373376:P97L;ENSP00000373377:P79L	ENSP00000296513:P97L	P	+	2	0	ADAD1	123521714	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.958000	0.76025	2.423000	0.82170	0.563000	0.77884	CCT		0.368	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		82	443	0	0	0	1	0	82	443				
AHDC1	27245	broad.mit.edu	37	1	27877908	27877908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27877908G>A	ENST00000247087.5	-	5	1315	c.719C>T	c.(718-720)gCt>gTt	p.A240V	AHDC1_ENST00000374011.2_Missense_Mutation_p.A240V			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	240	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCGGCGTCAGCAAGTTCTGA	0.667																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(718-720)gCt>gTt		AT hook, DNA binding motif, containing 1							41.0	47.0	45.0					1																	27877908		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27877908G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.719C>T	1.37:g.27877908G>A	ENSP00000247087:p.Ala240Val					AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.A240V	p.A240V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1687	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	240			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.719C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110079	0.77210	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.49139	0.79;0.79	5.16	4.24	0.50183	.	0.000000	0.34314	U	0.004067	T	0.30885	0.0779	N	0.19112	0.55	0.36790	D	0.884808	B	0.26602	0.154	B	0.20955	0.032	T	0.36163	-0.9759	10	0.56958	D	0.05	-6.5369	10.2596	0.43419	0.0938:0.0:0.9062:0.0	.	240	Q5TGY3	AHDC1_HUMAN	V	240	ENSP00000247087:A240V;ENSP00000363123:A240V	ENSP00000247087:A240V	A	-	2	0	AHDC1	27750495	0.998000	0.40836	0.581000	0.28614	0.797000	0.45037	3.824000	0.55723	2.407000	0.81776	0.467000	0.42956	GCT		0.667	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			53	263	0	0	0	1	0	53	263				
PALM	5064	broad.mit.edu	37	19	746591	746591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746591C>T	ENST00000338448.5	+	9	987	c.941C>T	c.(940-942)aCc>aTc	p.T314I	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.T270I	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	314					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAGGCCGAGACCAAGAAGGTG	0.652																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(808-810)aCc>aTc		paralemmin							43.0	36.0	39.0					19																	746591		2203	4300	6503	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746591C>T	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.941C>T	19.37:g.746591C>T	ENSP00000341911:p.Thr314Ile					PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.T314I	p.T270I	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1003	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	314					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.809C>T	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751746	0.69533	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.30182	1.54;1.54	4.92	1.25	0.21368	.	0.110204	0.64402	D	0.000010	T	0.51126	0.1656	M	0.77103	2.36	0.45762	D	0.99865	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	T	0.53655	-0.8408	10	0.87932	D	0	-25.5817	10.0812	0.42391	0.1401:0.5653:0.2946:0.0	.	270;314	O75781-2;O75781	.;PALM_HUMAN	I	314;270;179	ENSP00000341911:T314I;ENSP00000264560:T270I	ENSP00000264560:T270I	T	+	2	0	PALM	697591	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.710000	0.54860	0.444000	0.26612	0.462000	0.41574	ACC		0.652	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		36	194	0	0	0	1	0	36	194				
NADSYN1	55191	broad.mit.edu	37	11	71184618	71184618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71184618G>A	ENST00000319023.2	+	8	740	c.552G>A	c.(550-552)ccG>ccA	p.P184P		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	184	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCTGCAGCCCGCACATCGACA	0.637																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(550-552)ccG>ccA		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						41.0	37.0	39.0					11																	71184618		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71184618G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.552G>A	11.37:g.71184618G>A							p.P184P	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			8	740	+			184			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.552G>A	CCDS8201.1																																																																																				0.637	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		51	187	0	0	0	1	0	51	187				
ADAMTS18	170692	broad.mit.edu	37	16	77401620	77401620	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77401620A>C	ENST00000282849.5	-	4	914	c.496T>G	c.(496-498)Tca>Gca	p.S166A	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	166					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTAAACCTGACTAAAAAGCC	0.468																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.e4-1		ADAM metallopeptidase with thrombospondin type 1 motif, 18							97.0	89.0	92.0					16																	77401620		2198	4300	6498	SO:0001630	splice_region_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401620A>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.496-1T>G	16.37:g.77401620A>C						ADAMTS18_ENST00000567121.1_5'UTR	p.S166_splice	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			4	914	-			166					Q6P4R5|Q6ZWJ9	Splice_Site	SNP	ENST00000282849.5	37	c.495_splice	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781749	0.31502	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05996	3.36;3.36	4.72	3.62	0.41486	Peptidase M12B, propeptide (1);	0.157146	0.44902	D	0.000408	T	0.04998	0.0134	L	0.33485	1.01	0.41481	D	0.988164	B	0.12013	0.005	B	0.18263	0.021	T	0.30060	-0.9991	10	0.09843	T	0.71	.	10.0528	0.42225	0.8493:0.0:0.0:0.1507	.	166	Q8TE60	ATS18_HUMAN	A	166	ENSP00000282849:S166A;ENSP00000392540:S166A	ENSP00000282849:S166A	S	-	1	0	ADAMTS18	75959121	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.863000	0.56016	0.813000	0.34350	0.454000	0.30748	TCA		0.468	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		Missense_Mutation	96	314	0	0	0	1	0	96	314				
PCDH10	57575	broad.mit.edu	37	4	134073339	134073339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073339G>A	ENST00000264360.5	+	1	2870	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGATGGCGCCGTGGAGCC	0.716																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2044-2046)Gcc>Acc		protocadherin 10							21.0	27.0	25.0					4																	134073339		2191	4276	6467	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073339G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2044G>A	4.37:g.134073339G>A	ENSP00000264360:p.Ala682Thr						p.A682T	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2870	+			682			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2044G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	1.108	-0.658915	0.03454	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53206	0.63	4.62	3.78	0.43462	Cadherin (1);	0.000000	0.44902	D	0.000401	T	0.24890	0.0604	N	0.19112	0.55	0.35519	D	0.801305	P;P	0.35612	0.491;0.512	B;B	0.26416	0.028;0.069	T	0.27088	-1.0084	10	0.27082	T	0.32	.	6.9938	0.24769	0.0899:0.0:0.7385:0.1716	.	682;682	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	682	ENSP00000264360:A682T	ENSP00000264360:A682T	A	+	1	0	PCDH10	134292789	0.569000	0.26643	0.191000	0.23289	0.012000	0.07955	1.811000	0.38942	1.171000	0.42768	-0.136000	0.14681	GCC		0.716	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		62	222	0	0	0	1	0	62	222				
CEP85L	387119	broad.mit.edu	37	6	118803068	118803068	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118803068T>G	ENST00000368491.3	-	8	2240	c.1619A>C	c.(1618-1620)aAt>aCt	p.N540T	CEP85L_ENST00000368488.5_Missense_Mutation_p.N543T	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	540						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTCTTGTAAATTCTTATTTTT	0.303																																						ENST00000368491.3																			0											c.(1618-1620)aAt>aCt		centrosomal protein 85kDa-like							70.0	61.0	64.0					6																	118803068		1792	4062	5854	SO:0001583	missense	387119					centrosome		g.chr6:118803068T>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1619A>C	6.37:g.118803068T>G	ENSP00000357477:p.Asn540Thr					CEP85L_ENST00000368488.5_Missense_Mutation_p.N543T	p.N540T	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			8	2240	-			540					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1619A>C	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209342	0.22205	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	T;T;T	0.11063	2.81;2.81;2.81	5.24	1.19	0.21007	.	0.499399	0.23187	N	0.050944	T	0.01730	0.0055	N	0.19112	0.55	0.24195	N	0.995533	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.47598	-0.9105	10	0.22706	T	0.39	-9.2437	7.5187	0.27616	0.0:0.0717:0.2664:0.6619	.	543;540	F8W6J2;Q5SZL2	.;CF204_HUMAN	T	540;543;543	ENSP00000357477:N540T;ENSP00000357474:N543T;ENSP00000392131:N543T	ENSP00000357474:N543T	N	-	2	0	C6orf204	118909761	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	1.023000	0.30065	0.380000	0.24823	0.459000	0.35465	AAT		0.303	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		18	62	0	0	0	1	0	18	62				
MIA2	117153	broad.mit.edu	37	14	39706205	39706205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39706205G>T	ENST00000280082.3	+	2	394	c.195G>T	c.(193-195)gaG>gaT	p.E65D	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E65D|MIA2_ENST00000556784.1_Missense_Mutation_p.E65D	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	65	SH3.				cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGGGAGAAGAGATATCTGTTT	0.363																																						ENST00000553728.1																			0											c.(193-195)gaG>gaT									87.0	82.0	84.0					14																	39706205		2203	4300	6503	SO:0001583	missense	0							g.chr14:39706205G>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.195G>T	14.37:g.39706205G>T	ENSP00000280082:p.Glu65Asp					MIA2_ENST00000280082.3_Missense_Mutation_p.E65D|MIA2_ENST00000556784.1_Missense_Mutation_p.E65D	p.E65D							2	408	+								A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.195G>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799117	0.70567	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.26	2.41	0.29592	.	0.000000	0.38548	N	0.001651	T	0.81029	0.4738	L	0.39898	1.24	0.31873	N	0.61949	D	0.89917	1.0	D	0.77004	0.989	T	0.77536	-0.2551	9	.	.	.	-13.5182	4.4414	0.11575	0.3:0.0:0.5536:0.1464	.	65	Q96PC5-2	.	D	65	ENSP00000451883:E65D;ENSP00000451217:E65D;ENSP00000280082:E65D;ENSP00000451934:E65D;ENSP00000452252:E65D	.	E	+	3	2	MIA2;RP11-407N17.3	38775956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.637000	0.24659	0.223000	0.20920	0.655000	0.94253	GAG		0.363	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		33	176	1	0	1.22384e-17	1	1.35282e-17	33	176				
PWWP2B	170394	broad.mit.edu	37	10	134218335	134218335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134218335G>A	ENST00000305233.5	+	2	390	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	111	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCGCTGCCCGCCGGAAGCCT	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(331-333)Gcc>Acc		PWWP domain containing 2B							7.0	7.0	7.0					10																	134218335		1698	3287	4985	SO:0001583	missense	170394							g.chr10:134218335G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.331G>A	10.37:g.134218335G>A	ENSP00000306324:p.Ala111Thr					PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	p.A111T	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	390	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	111			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.331G>A	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143618	0.01728	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.55760	0.5;1.5	3.71	2.72	0.32119	.	0.363325	0.20623	U	0.088734	T	0.35711	0.0941	L	0.38175	1.15	0.18873	N	0.999989	B	0.17852	0.024	B	0.06405	0.002	T	0.13764	-1.0497	10	0.23302	T	0.38	-1.9873	5.7131	0.17945	0.1733:0.0:0.8267:0.0	.	111	Q6NUJ5	PWP2B_HUMAN	T	111	ENSP00000306324:A111T;ENSP00000357598:A111T	ENSP00000306324:A111T	A	+	1	0	PWWP2B	134068325	0.001000	0.12720	0.069000	0.20011	0.392000	0.30506	-0.086000	0.11233	0.825000	0.34637	0.557000	0.71058	GCC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		15	56	0	0	0	1	0	15	56				
SULF2	55959	broad.mit.edu	37	20	46365517	46365517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46365517C>T	ENST00000359930.4	-	3	1196	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000484875.1_Silent_p.S115S|SULF2_ENST00000361612.4_Silent_p.S115S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	115					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCCAGGAGGGCGAGGAGCAGT	0.607																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(343-345)tcG>tcA		sulfatase 2							232.0	166.0	188.0					20																	46365517		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46365517C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.345G>A	20.37:g.46365517C>T						SULF2_ENST00000484875.1_Silent_p.S115S|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Silent_p.S115S	p.S115S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			3	1196	-			115					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.345G>A	CCDS13408.1																																																																																				0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		44	187	0	0	0	1	0	44	187				
XPNPEP3	63929	broad.mit.edu	37	22	41282496	41282496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282496A>G	ENST00000357137.4	+	4	853	c.769A>G	c.(769-771)Att>Gtt	p.I257V	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	257					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACGAATGCAGATTGCTGGGAA	0.527																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(769-771)Att>Gtt		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							74.0	78.0	76.0					22																	41282496		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41282496A>G		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.769A>G	22.37:g.41282496A>G	ENSP00000349658:p.Ile257Val					XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V	p.I257V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			4	853	+			257					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.769A>G	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002692	0.35320	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T	0.76186	-1.0;-1.0	5.74	0.825	0.18824	Peptidase M24, structural domain (3);	0.518896	0.22027	N	0.065658	T	0.52613	0.1745	N	0.16233	0.39	0.26831	N	0.968589	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.004	T	0.37478	-0.9704	10	0.36615	T	0.2	.	6.5065	0.22198	0.6254:0.1244:0.2502:0.0	.	257;257	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	V	257;257;257;234	ENSP00000349658:I257V;ENSP00000441942:I234V	ENSP00000349658:I257V	I	+	1	0	XPNPEP3	39612442	0.889000	0.30405	0.998000	0.56505	0.997000	0.91878	1.347000	0.33975	0.103000	0.17682	0.455000	0.32223	ATT		0.527	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		82	299	0	0	0	1	0	82	299				
GPR132	29933	broad.mit.edu	37	14	105517442	105517442	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517442G>A	ENST00000329797.3	-	4	1943	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	GPR132_ENST00000392585.2_Silent_p.T335T|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000539291.2_Silent_p.T344T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	344					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCAGCTCCTCGGTGTCCCTGC	0.607																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1030-1032)acC>acT		G protein-coupled receptor 132							173.0	142.0	152.0					14																	105517442		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517442G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.1032C>T	14.37:g.105517442G>A						GPR132_ENST00000539291.2_Silent_p.T344T|GPR132_ENST00000392585.2_Silent_p.T335T	p.T344T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1943	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	344					A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.1032C>T	CCDS9997.1																																																																																				0.607	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		16	313	0	0	0	1	0	16	313				
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T	rs201390504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119030980C>T	ENST00000449422.2	+	13	1669	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M|ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647																																						ENST00000307417.3																			1	Substitution - Missense(1)	p.T494M(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1480-1482)aCg>aTg		ATP-binding cassette, sub-family G (WHITE), member 4		C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	83.0	74.0	77.0		1481,1481	5.2	1.0	11		77	0,8590		0,0,4295	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	81,81	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	494/647,494/647	119030980	1,12989	2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119030980C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1481C>T	11.37:g.119030980C>T	ENSP00000406874:p.Thr494Met					ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	13	1845	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	494			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1481C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223466	0.95139	2.27E-4	0.0	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86992	0.2111	10	0.87932	D	0	-9.1283	18.9923	0.92798	0.0:1.0:0.0:0.0	.	494	Q9H172	ABCG4_HUMAN	M	494	ENSP00000304111:T494M;ENSP00000406874:T494M;ENSP00000434318:T494M	ENSP00000304111:T494M	T	+	2	0	ABCG4	118536190	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.629000	0.83207	2.720000	0.93068	0.558000	0.71614	ACG		0.647	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		83	463	0	0	0	1	0	83	463				
PHKG1	5260	broad.mit.edu	37	7	56155329	56155329	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155329A>G	ENST00000297373.2	-	3	418	c.224T>C	c.(223-225)gTg>gCg	p.V75A	PHKG1_ENST00000537360.1_Silent_p.G39G|PHKG1_ENST00000452681.2_Missense_Mutation_p.V75A|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGGATGTCCACCTCCTTCAG	0.647																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(223-225)gTg>gCg		phosphorylase kinase, gamma 1 (muscle)							77.0	51.0	60.0					7																	56155329		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56155329A>G	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.224T>C	7.37:g.56155329A>G	ENSP00000297373:p.Val75Ala					PHKG1_ENST00000297373.2_Missense_Mutation_p.V75A|PHKG1_ENST00000537360.1_Silent_p.G39G|PHKG1_ENST00000489604.1_5'UTR	p.V75A	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	373	-	Breast(14;0.214)		75			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.224T>C	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233249	0.58886	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.66280	-0.2;1.02	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095040	0.43747	D	0.000535	T	0.68100	0.2964	L	0.53561	1.675	0.80722	D	1	B;P;P	0.41008	0.064;0.735;0.613	B;B;P	0.51079	0.338;0.287;0.658	T	0.64554	-0.6380	10	0.27082	T	0.32	-36.2881	14.9413	0.70994	1.0:0.0:0.0:0.0	.	75;75;75	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	A	75	ENSP00000445440:V75A;ENSP00000297373:V75A	ENSP00000297373:V75A	V	-	2	0	PHKG1	56122823	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.273000	0.95719	2.189000	0.69895	0.460000	0.39030	GTG		0.647	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		32	139	0	0	0	1	0	32	139				
PCK2	5106	broad.mit.edu	37	14	24566204	24566204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24566204C>T	ENST00000216780.4	+	2	401	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*|NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|PCK2_ENST00000560657.1_3'UTR	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	45					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CACTGGCATTCGAGATTTTGT	0.577																																						ENST00000216780.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(133-135)Cga>Tga		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							95.0	84.0	88.0					14																	24566204		2203	4300	6503	SO:0001587	stop_gained	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24566204C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.133C>T	14.37:g.24566204C>T	ENSP00000216780:p.Arg45*					PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|NRL_ENST00000561028.1_Intron	p.R45*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	2	401	+			45					O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	37	c.133C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000904	0.54254	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.52	4.58	0.56647	.	0.179793	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0504	12.1787	0.54199	0.2581:0.7419:0.0:0.0	.	.	.	.	X	45	.	ENSP00000216780:R45X	R	+	1	2	PCK2	23636044	0.569000	0.26643	0.955000	0.39395	0.004000	0.04260	0.894000	0.28350	2.746000	0.94184	0.650000	0.86243	CGA		0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		88	371	0	0	0	1	0	88	371				
RBM8A	9939	broad.mit.edu	37	1	145508545	145508545	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145508545A>C	ENST00000330165.8	+	4	345	c.276A>C	c.(274-276)aaA>aaC	p.K92N	RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000601726.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACACGACAAATTCGCAGAAT	0.453																																						ENST00000330165.7																			0				kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(274-276)aaA>aaC		RNA binding motif protein 8A							106.0	100.0	102.0					1																	145508545		2203	4300	6503	SO:0001583	missense	9939				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr1:145508545A>C	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.276A>C	1.37:g.145508545A>C	ENSP00000333001:p.Lys92Asn					RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N	p.K92N	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN			4	345	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		92			RRM.		B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	c.276A>C	CCDS916.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720441	0.48728	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.15952	2.38;2.38	4.32	1.93	0.25924	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055524	0.64402	D	0.000001	T	0.05456	0.0144	L	0.40543	1.245	0.58432	D	0.999998	B;B	0.28760	0.185;0.221	B;B	0.32762	0.094;0.152	T	0.20207	-1.0282	10	0.41790	T	0.15	-8.5494	5.7489	0.18136	0.7769:0.0:0.2231:0.0	.	91;92	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	N	92;91	ENSP00000333001:K92N;ENSP00000358313:K91N	ENSP00000333001:K92N	K	+	3	2	RBM8A	144219902	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	0.661000	0.25023	0.217000	0.20800	0.459000	0.35465	AAA		0.453	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		129	326	0	0	0	1	0	129	326				
E2F4	1874	broad.mit.edu	37	16	67233635	67233635	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233635G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Silent_p.G109G|ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000393997.2_Silent_p.G109G|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TTGCGGATGGGCACCGGAGAT	0.672																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(325-327)ggG>ggA		engulfment and cell motility 3							51.0	59.0	56.0					16																	67233635		2089	4202	6291	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233635G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233635G>A						ELMO3_ENST00000360833.1_Silent_p.G109G|ELMO3_ENST00000477898.1_5'UTR	p.G109G	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	3	384	+		Ovarian(137;0.0563)	56					A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	37	c.327G>A	CCDS32464.1																																																																																				0.672	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		29	126	0	0	0	1	0	29	126				
SPI1	6688	broad.mit.edu	37	11	47381477	47381477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47381477C>T	ENST00000378538.3	-	3	479	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	86					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCATGTGGCGGTAGAGCTG	0.657																																						ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(256-258)cGc>cAc		spleen focus forming virus (SFFV) proviral integration oncogene							57.0	48.0	51.0					11																	47381477		2200	4298	6498	SO:0001583	missense	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47381477C>T	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.257G>A	11.37:g.47381477C>T	ENSP00000367799:p.Arg86His					SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H	p.R86H	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	3	479	-			86						Missense_Mutation	SNP	ENST00000378538.3	37	c.257G>A	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082220	0.76528	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T	0.22336	1.96;1.97	3.59	3.59	0.41128	.	0.064020	0.64402	D	0.000012	T	0.42562	0.1208	M	0.75777	2.31	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.71184	0.966;0.84;0.972	T	0.37663	-0.9696	10	0.15499	T	0.54	-27.9195	15.7696	0.78157	0.0:1.0:0.0:0.0	.	86;86;87	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	H	86;87;86	ENSP00000367799:R86H;ENSP00000227163:R87H	ENSP00000227163:R87H	R	-	2	0	SPI1	47338053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.526000	0.45607	1.985000	0.57927	0.655000	0.94253	CGC		0.657	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		25	212	0	0	0	1	0	25	212				
PKD2L2	27039	broad.mit.edu	37	5	137243502	137243502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137243502G>A	ENST00000508883.1	+	7	1073	c.1047G>A	c.(1045-1047)ttG>ttA	p.L349L	PKD2L2_ENST00000508638.1_Silent_p.L349L|PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000290431.5_Silent_p.L349L|PKD2L2_ENST00000502810.1_Silent_p.L327L			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	349					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GACAGCTGTTGAAAAGTACTG	0.299																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1045-1047)ttG>ttA		polycystic kidney disease 2-like 2							106.0	92.0	97.0					5																	137243502		1788	4068	5856	SO:0001819	synonymous_variant	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137243502G>A	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1047G>A	5.37:g.137243502G>A						PKD2L2_ENST00000290431.5_Silent_p.L349L|PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000502810.1_Silent_p.L327L|PKD2L2_ENST00000508883.1_Silent_p.L349L	p.L349L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1102	+			349					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37	c.1047G>A																																																																																					0.299	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		24	102	0	0	0	1	0	24	102				
EFHC1	114327	broad.mit.edu	37	6	52354937	52354937	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52354937G>T	ENST00000371068.5	+	10	1743		c.e10-1		EFHC1_ENST00000433625.2_Splice_Site|EFHC1_ENST00000538167.1_Splice_Site	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1							axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTTCTCTACAGCAAGCAAACT	0.403																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.e10-1		EF-hand domain (C-terminal) containing 1							71.0	63.0	65.0					6																	52354937		2203	4300	6503	SO:0001630	splice_region_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52354937G>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1641-1G>T	6.37:g.52354937G>T						EFHC1_ENST00000538167.1_Splice_Site|EFHC1_ENST00000433625.2_Splice_Site		NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			10	1743	+	Lung NSC(77;0.109)							B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Splice_Site	SNP	ENST00000371068.5	37		CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692250	0.68271	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.829	0.85939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFHC1	52462896	0.996000	0.38824	0.997000	0.53966	0.884000	0.51177	4.760000	0.62235	2.833000	0.97629	0.650000	0.86243	.		0.403	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	Intron	31	176	1	0	7.68411e-24	1	8.75532e-24	31	176				
NUP188	23511	broad.mit.edu	37	9	131761996	131761996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131761996G>A	ENST00000372577.2	+	34	3776	c.3755G>A	c.(3754-3756)aGt>aAt	p.S1252N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1252					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCGCCACAGTCTGGCATTA	0.572																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3754-3756)aGt>aAt		nucleoporin 188kDa							75.0	65.0	68.0					9																	131761996		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131761996G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3755G>A	9.37:g.131761996G>A	ENSP00000361658:p.Ser1252Asn						p.S1252N	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			34	3776	+			1252					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3755G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197801	0.22037	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32753	1.44	5.28	5.28	0.74379	.	0.249110	0.46145	D	0.000301	T	0.26955	0.0660	L	0.60455	1.87	0.34919	D	0.748258	P;B	0.34462	0.454;0.244	B;B	0.29663	0.105;0.037	T	0.34229	-0.9837	10	0.23302	T	0.38	-29.9441	11.3822	0.49763	0.0831:0.0:0.9169:0.0	.	585;1252	E9PET9;Q5SRE5	.;NU188_HUMAN	N	1141;1252	ENSP00000361658:S1252N	ENSP00000349125:S1141N	S	+	2	0	NUP188	130801817	1.000000	0.71417	0.977000	0.42913	0.531000	0.34715	2.879000	0.48522	2.473000	0.83533	0.563000	0.77884	AGT		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			35	173	0	0	0	1	0	35	173				
EML5	161436	broad.mit.edu	37	14	89083140	89083140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89083140C>T	ENST00000380664.5	-	40	5701	c.5702G>A	c.(5701-5703)gGa>gAa	p.G1901E	EML5_ENST00000554922.1_Missense_Mutation_p.G1909E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1901						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGACTGATTCCTGAATGAGA	0.393																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5725-5727)gGa>gAa		echinoderm microtubule associated protein like 5							88.0	84.0	86.0					14																	89083140		1931	4136	6067	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89083140C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5702G>A	14.37:g.89083140C>T	ENSP00000370039:p.Gly1901Glu					EML5_ENST00000380664.5_Missense_Mutation_p.G1901E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E	p.G1909E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			42	5974	-			1901					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.5726G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969264	0.92855	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.22134	1.97;1.97;1.97	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48647	-0.9017	10	0.48119	T	0.1	-16.733	19.2291	0.93831	0.0:1.0:0.0:0.0	.	1901	Q05BV3	EMAL5_HUMAN	E	1909;1863;1901	ENSP00000451998:G1909E;ENSP00000298315:G1863E;ENSP00000370039:G1901E	ENSP00000298315:G1863E	G	-	2	0	EML5	88152893	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.445000	0.80570	2.614000	0.88457	0.655000	0.94253	GGA		0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			49	185	0	0	0	1	0	49	185				
COL4A2	1284	broad.mit.edu	37	13	111111123	111111123	+	Missense_Mutation	SNP	G	G	A	rs561067393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111111123G>A	ENST00000360467.5	+	22	1744	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	480	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGTGACGCTGGGGAATG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		19097	0.0		0.0	False		,,,				2504	0.002					ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1438-1440)Gct>Act		collagen, type IV, alpha 2							114.0	121.0	119.0					13																	111111123		2091	4226	6317	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111111123G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1438G>A	13.37:g.111111123G>A	ENSP00000353654:p.Ala480Thr					COL4A2-AS2_ENST00000458403.2_RNA	p.A480T	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		22	1744	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	480			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1438G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585683	0.13749	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.37	1.36	0.22044	.	0.568329	0.15913	N	0.238523	T	0.80019	0.4547	N	0.17474	0.49	0.80722	D	1	P	0.44429	0.835	B	0.35413	0.202	T	0.73228	-0.4049	10	0.10902	T	0.67	.	2.5355	0.04713	0.0888:0.271:0.2813:0.3589	.	480	P08572	CO4A2_HUMAN	T	480	ENSP00000353654:A480T	ENSP00000257309:A480T	A	+	1	0	COL4A2	109909124	0.000000	0.05858	0.006000	0.13384	0.094000	0.18550	-0.225000	0.09151	0.203000	0.20529	-0.182000	0.12963	GCT		0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		30	696	0	0	0	1	0	30	696				
FAM179B	23116	broad.mit.edu	37	14	45431712	45431712	+	Missense_Mutation	SNP	G	G	A	rs372220648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431712G>A	ENST00000361577.3	+	1	302	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	FAM179B_ENST00000361462.2_Missense_Mutation_p.A30T|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	30										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCGTCCTTCCGCCCCAGAGAC	0.617																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(88-90)Gcc>Acc		family with sequence similarity 179, member B							29.0	30.0	29.0					14																	45431712		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45431712G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.88G>A	14.37:g.45431712G>A	ENSP00000355045:p.Ala30Thr					FAM179B_ENST00000361577.3_Missense_Mutation_p.A30T|FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T	p.A30T			Q9Y4F4	F179B_HUMAN			1	271	+			30					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.88G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.027082	0.19512	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.36520	2.47;2.47;1.25	4.88	0.561	0.17285	.	0.305959	0.23642	N	0.046008	T	0.16300	0.0392	N	0.12182	0.205	0.25685	N	0.98576	B;B;B;B	0.15930	0.015;0.006;0.006;0.006	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.15694	-1.0428	10	0.27082	T	0.32	0.0	6.2572	0.20879	0.4888:0.0:0.5112:0.0	.	30;30;30;30	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	30	ENSP00000355045:A30T;ENSP00000354917:A30T;ENSP00000371668:A30T	ENSP00000354917:A30T	A	+	1	0	FAM179B	44501462	0.955000	0.32602	0.999000	0.59377	0.647000	0.38526	0.783000	0.26802	0.220000	0.20860	0.655000	0.94253	GCC		0.617	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		53	150	0	0	0	1	0	53	150				
SSTR4	6754	broad.mit.edu	37	20	23016650	23016650	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016650T>A	ENST00000255008.3	+	1	594	c.530T>A	c.(529-531)gTc>gAc	p.V177D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	177					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCCTGTTGGTCACTCTCCCC	0.706																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(529-531)gTc>gAc		somatostatin receptor 4							48.0	54.0	52.0					20																	23016650		2195	4284	6479	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016650T>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.530T>A	20.37:g.23016650T>A	ENSP00000255008:p.Val177Asp					RP4-753D10.3_ENST00000440921.1_RNA	p.V177D	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	594	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		177					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.530T>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114789	0.56505	.	.	ENSG00000132671	ENST00000255008	T	0.74421	-0.84	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000039	D	0.87549	0.6205	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89683	0.3892	10	0.87932	D	0	.	11.6214	0.51119	0.0:0.0:0.0:1.0	.	177	P31391	SSR4_HUMAN	D	177	ENSP00000255008:V177D	ENSP00000255008:V177D	V	+	2	0	SSTR4	22964650	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	4.361000	0.59461	1.603000	0.50134	0.533000	0.62120	GTC		0.706	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			107	445	0	0	0	1	0	107	445				
C1orf110	339512	broad.mit.edu	37	1	162824821	162824821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162824821C>T	ENST00000367910.1	-	4	763	c.643G>A	c.(643-645)Gct>Act	p.A215T	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	215										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GGCTTTAGAGCAACATCTTTT	0.463																																						ENST00000367910.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(643-645)Gct>Act		chromosome 1 open reading frame 110							189.0	173.0	178.0					1																	162824821		1953	4181	6134	SO:0001583	missense	339512							g.chr1:162824821C>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.643G>A	1.37:g.162824821C>T	ENSP00000356886:p.Ala215Thr					C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000367912.1_Intron	p.A215T	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN			4	763	-			215					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.643G>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435252	0.25813	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	-0.526	0.11913	.	1.624330	0.03204	N	0.175223	T	0.10895	0.0266	N	0.19112	0.55	0.22888	N	0.998608	B	0.10296	0.003	B	0.10450	0.005	T	0.17228	-1.0376	8	0.30854	T	0.27	-0.394	7.2838	0.26326	0.0:0.5225:0.0:0.4775	.	215	Q86UF4	CA110_HUMAN	T	215	.	ENSP00000356886:A215T	A	-	1	0	C1orf110	161091445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.340000	0.02650	-0.025000	0.13918	-0.302000	0.09304	GCT		0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		81	472	0	0	0	1	0	81	472				
UBE2O	63893	broad.mit.edu	37	17	74392554	74392554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74392554C>T	ENST00000319380.7	-	14	2528	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	822					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGAGGCTCTCCAGGATCTTG	0.607																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2464-2466)Gag>Aag		ubiquitin-conjugating enzyme E2O							117.0	124.0	121.0					17																	74392554		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392554C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2464G>A	17.37:g.74392554C>T	ENSP00000323687:p.Glu822Lys						p.E822K	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2528	-			822					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2464G>A	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055298	0.93793	.	.	ENSG00000175931	ENST00000319380	T	0.81247	-1.47	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.82949	0.5148	L	0.27053	0.805	0.58432	D	0.999997	D	0.63880	0.993	D	0.68192	0.956	T	0.82697	-0.0329	10	0.34782	T	0.22	.	17.5355	0.87829	0.0:1.0:0.0:0.0	.	822	Q9C0C9	UBE2O_HUMAN	K	822	ENSP00000323687:E822K	ENSP00000323687:E822K	E	-	1	0	UBE2O	71904149	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.790000	0.69038	2.206000	0.71126	0.462000	0.41574	GAG		0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		46	1323	0	0	0	1	0	46	1323				
SRRM2	23524	broad.mit.edu	37	16	2817777	2817777	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2817777A>C	ENST00000301740.8	+	11	7797	c.7248A>C	c.(7246-7248)caA>caC	p.Q2416H	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2416	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCAAGCCAATCTAGGATGA	0.607																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7246-7248)caA>caC		serine/arginine repetitive matrix 2							78.0	67.0	71.0					16																	2817777		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817777A>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7248A>C	16.37:g.2817777A>C	ENSP00000301740:p.Gln2416His					SRRM2_ENST00000574593.1_3'UTR	p.Q2416H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7797	+			2416			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7248A>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281883	0.23392	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79247	-1.25	5.91	-0.206	0.13193	.	0.095774	0.46442	N	0.000283	T	0.58148	0.2102	N	0.19112	0.55	0.26150	N	0.980158	B	0.06786	0.001	B	0.04013	0.001	T	0.50004	-0.8878	10	0.62326	D	0.03	-2.6915	6.4015	0.21640	0.3947:0.1244:0.4809:0.0	.	2416	Q9UQ35	SRRM2_HUMAN	H	2416;1668	ENSP00000301740:Q2416H	ENSP00000301740:Q2416H	Q	+	3	2	SRRM2	2757778	1.000000	0.71417	0.986000	0.45419	0.622000	0.37654	0.476000	0.22180	-0.086000	0.12550	-0.119000	0.15052	CAA		0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			66	324	0	0	0	1	0	66	324				
PLXNA2	5362	broad.mit.edu	37	1	208266196	208266196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208266196G>A	ENST00000367033.3	-	9	2789	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	678					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGAGGTTGCGGTACTTGCAC	0.547																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2032-2034)Cgc>Tgc		plexin A2							100.0	86.0	91.0					1																	208266196		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208266196G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2032C>T	1.37:g.208266196G>A	ENSP00000356000:p.Arg678Cys						p.R678C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	9	2789	-			678					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2032C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971966	0.92919	.	.	ENSG00000076356	ENST00000367033	T	0.18502	2.21	5.86	5.86	0.93980	.	0.047707	0.85682	D	0.000000	T	0.51227	0.1662	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55528	-0.8127	10	0.72032	D	0.01	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	678	O75051	PLXA2_HUMAN	C	678	ENSP00000356000:R678C	ENSP00000356000:R678C	R	-	1	0	PLXNA2	206332819	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.249000	0.72427	2.778000	0.95560	0.655000	0.94253	CGC		0.547	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		30	223	0	0	0	1	0	30	223				
ARHGAP31	57514	broad.mit.edu	37	3	119084170	119084170	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084170C>T	ENST00000264245.4	+	2	640	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	36	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TAGTTCCATACGTTTTGAAGA	0.363																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(106-108)taC>taT		Rho GTPase activating protein 31							83.0	75.0	78.0					3																	119084170		1842	4105	5947	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119084170C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.108C>T	3.37:g.119084170C>T							p.Y36Y	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			2	640	+			36			Rho-GAP.		Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.108C>T	CCDS43135.1																																																																																				0.363	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			45	220	0	0	0	1	0	45	220				
SLC36A3	285641	broad.mit.edu	37	5	150672988	150672988	+	Missense_Mutation	SNP	G	G	A	rs150561602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150672988G>A	ENST00000335230.3	-	4	752	c.341C>T	c.(340-342)gCc>gTc	p.A114V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	114						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACATCGTGGCCTCTCCATA	0.438																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(340-342)gCc>gTc		solute carrier family 36, member 3							96.0	77.0	83.0					5																	150672988		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150672988G>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.341C>T	5.37:g.150672988G>A	ENSP00000334750:p.Ala114Val					SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	p.A114V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	752	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	114					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.341C>T	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	6.365	0.435412	0.12045	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.04360	3.64;3.89	4.2	3.34	0.38264	.	0.227351	0.44285	D	0.000473	T	0.03348	0.0097	N	0.17278	0.47	0.34852	D	0.741785	B;B;B	0.17465	0.007;0.022;0.006	B;B;B	0.23419	0.017;0.046;0.041	T	0.32903	-0.9889	10	0.09843	T	0.71	-0.3054	12.057	0.53540	0.084:0.0:0.916:0.0	.	114;114;58	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	114	ENSP00000334750:A114V;ENSP00000366942:A114V	ENSP00000334750:A114V	A	-	2	0	SLC36A3	150653181	0.998000	0.40836	0.908000	0.35775	0.608000	0.37181	4.935000	0.63498	1.004000	0.39156	0.585000	0.79938	GCC		0.438	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		23	105	0	0	0	1	0	23	105				
RECK	8434	broad.mit.edu	37	9	36118895	36118895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36118895G>A	ENST00000377966.3	+	18	2961	c.2395G>A	c.(2395-2397)Gtc>Atc	p.V799I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	799					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCACAGCTCCGTCGCCGAGTG	0.602																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2395-2397)Gtc>Atc		reversion-inducing-cysteine-rich protein with kazal motifs							85.0	77.0	80.0					9																	36118895		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36118895G>A	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2395G>A	9.37:g.36118895G>A	ENSP00000367202:p.Val799Ile						p.V799I	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		18	2961	+			799					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2395G>A	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	4.656	0.122028	0.08931	.	.	ENSG00000122707	ENST00000377966	T	0.43294	0.95	5.43	3.24	0.37175	.	0.428349	0.23164	N	0.051203	T	0.24198	0.0586	N	0.22421	0.69	0.09310	N	1	B;B	0.22414	0.069;0.069	B;B	0.12156	0.007;0.007	T	0.11275	-1.0594	10	0.21540	T	0.41	-5.8041	7.5195	0.27620	0.0:0.2918:0.4891:0.219	.	799;799	A8K9D8;O95980	.;RECK_HUMAN	I	799	ENSP00000367202:V799I	ENSP00000367202:V799I	V	+	1	0	RECK	36108895	0.665000	0.27466	0.017000	0.16124	0.059000	0.15707	1.935000	0.40173	1.388000	0.46506	0.655000	0.94253	GTC		0.602	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			16	273	0	0	0	1	0	16	273				
ITIH1	3697	broad.mit.edu	37	3	52814339	52814339	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52814339T>G	ENST00000273283.2	+	6	652	c.628T>G	c.(628-630)Tct>Gct	p.S210A	ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	210					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCCCAGGCCTCTTTCCTGCC	0.483																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(628-630)Tct>Gct		inter-alpha-trypsin inhibitor heavy chain 1							41.0	42.0	42.0					3																	52814339		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52814339T>G		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.628T>G	3.37:g.52814339T>G	ENSP00000273283:p.Ser210Ala					ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A	p.S210A	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	6	652	+			210					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.628T>G	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360543	0.61403	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02369	4.32;4.84;4.72	6.07	-4.65	0.03339	.	0.193262	0.53938	D	0.000043	T	0.03827	0.0108	M	0.69823	2.125	0.80722	D	1	B	0.30542	0.284	B	0.36845	0.234	T	0.33111	-0.9881	10	0.66056	D	0.02	-15.0808	4.8638	0.13598	0.3522:0.3161:0.0:0.3317	.	210	P19827	ITIH1_HUMAN	A	210;210;68	ENSP00000442584:S210A;ENSP00000273283:S210A;ENSP00000443973:S68A	ENSP00000273283:S210A	S	+	1	0	ITIH1	52789379	0.887000	0.30362	0.992000	0.48379	0.710000	0.40934	0.402000	0.20965	-0.299000	0.08909	-0.274000	0.10170	TCT		0.483	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		33	133	0	0	0	1	0	33	133				
ARHGEF10	9639	broad.mit.edu	37	8	1874553	1874553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1874553C>A	ENST00000398564.1	+	23	2696	c.2696C>A	c.(2695-2697)gCt>gAt	p.A899D	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A898D|ARHGEF10_ENST00000262112.6_Intron|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	899					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATTGAATGTGCTGCTTATAAC	0.378																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2692-2694)gCt>gAt		Rho guanine nucleotide exchange factor (GEF) 10							179.0	165.0	170.0					8																	1874553		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1874553C>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2696C>A	8.37:g.1874553C>A	ENSP00000381571:p.Ala899Asp					ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A899D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D|ARHGEF10_ENST00000262112.6_Intron	p.A898D			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	24	2856	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	899					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2693C>A		.	.	.	.	.	.	.	.	.	.	C	16.78	3.218496	0.58560	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564	T;T;T;T	0.61627	0.1;0.16;0.09;0.09	5.26	5.26	0.73747	.	0.115630	0.56097	D	0.000021	T	0.78142	0.4237	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.72075	0.967;0.976;0.953	T	0.81215	-0.1034	10	0.72032	D	0.01	-14.6941	18.8647	0.92287	0.0:1.0:0.0:0.0	.	899;836;874	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	D	874;836;898;899	ENSP00000340297:A874D;ENSP00000427909:A836D;ENSP00000431012:A898D;ENSP00000381571:A899D	ENSP00000340297:A874D	A	+	2	0	ARHGEF10	1861960	1.000000	0.71417	0.945000	0.38365	0.017000	0.09413	6.550000	0.73905	2.437000	0.82529	0.650000	0.86243	GCT		0.378	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				24	269	1	0	6.32553e-13	1	6.81307e-13	24	269				
TAS1R3	83756	broad.mit.edu	37	1	1269749	1269749	+	Missense_Mutation	SNP	G	G	T	rs200098251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1269749G>T	ENST00000339381.5	+	6	2496	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	822					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GCGGCAGCCAGGGCTCAACAC	0.642																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(2464-2466)Ggg>Tgg		taste receptor, type 1, member 3	Aspartame(DB00168)						22.0	24.0	24.0					1																	1269749		2195	4295	6490	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269749G>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.2464G>T	1.37:g.1269749G>T	ENSP00000344411:p.Gly822Trp						p.G822W	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	6	2496	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	822					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.2464G>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087578	0.20390	.	.	ENSG00000169962	ENST00000339381	D	0.88896	-2.44	4.59	-2.82	0.05787	GPCR, family 3, C-terminal (1);	1.629200	0.03282	N	0.186320	D	0.83041	0.5168	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.52424	0.698	T	0.73975	-0.3813	10	0.72032	D	0.01	.	7.2296	0.26034	0.2315:0.2324:0.5361:0.0	.	822	Q7RTX0	TS1R3_HUMAN	W	822	ENSP00000344411:G822W	ENSP00000344411:G822W	G	+	1	0	TAS1R3	1259612	0.026000	0.19158	0.000000	0.03702	0.057000	0.15508	0.984000	0.29565	-0.314000	0.08716	0.456000	0.33151	GGG		0.642	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			16	91	1	0	4.7546e-09	1	4.99022e-09	16	91				
GCN1L1	10985	broad.mit.edu	37	12	120602181	120602181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120602181C>A	ENST00000300648.6	-	18	1819	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	603					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAGAGTCCGTGCGCCAGC	0.607																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1807-1809)Gga>Tga		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							91.0	95.0	94.0					12																	120602181		1963	4158	6121	SO:0001587	stop_gained	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602181C>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1807G>T	12.37:g.120602181C>A	ENSP00000300648:p.Gly603*						p.G603*	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			18	1819	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		603					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Nonsense_Mutation	SNP	ENST00000300648.6	37	c.1807G>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	38	7.103971	0.98066	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	603	.	ENSP00000300648:G603X	G	-	1	0	GCN1L1	119086564	1.000000	0.71417	0.733000	0.30861	0.934000	0.57294	7.232000	0.78116	2.769000	0.95229	0.655000	0.94253	GGA		0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			115	601	1	0	6.91701e-41	1	8.39604e-41	115	601				
ATP2C1	27032	broad.mit.edu	37	3	130656302	130656302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130656302G>A	ENST00000510168.1	+	6	905	c.355G>A	c.(355-357)Gtt>Att	p.V119I	ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	119					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTTGCCTTTGTTCAGGTAAG	0.333									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(355-357)Gtt>Att		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						179.0	159.0	166.0					3																	130656302		2201	4300	6501	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130656302G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.355G>A	3.37:g.130656302G>A	ENSP00000427461:p.Val119Ile					ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I	p.V119I			P98194	AT2C1_HUMAN			6	905	+			119					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.355G>A	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200581	0.58126	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000505072;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.38;-2.84;-2.84;-2.84;-2.84	5.94	5.94	0.96194	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	N	0.20766	0.605	0.58432	D	0.999995	P;P;B;P;B;B;P	0.40578	0.675;0.722;0.096;0.675;0.096;0.421;0.476	B;B;B;B;B;B;B	0.41946	0.254;0.371;0.196;0.254;0.163;0.163;0.252	T	0.82504	-0.0424	10	0.12430	T	0.62	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	153;114;153;119;153;119;119	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	I	103;64;103;153;114;119;119;103;103;119;119;119;119;119;118	ENSP00000423774:V103I;ENSP00000425320:V64I;ENSP00000421326:V103I;ENSP00000376914:V153I;ENSP00000432956:V114I;ENSP00000427461:V119I;ENSP00000424783:V119I;ENSP00000423330:V103I;ENSP00000422872:V103I;ENSP00000427625:V119I;ENSP00000329664:V119I;ENSP00000395809:V119I;ENSP00000352665:V119I;ENSP00000402677:V119I	ENSP00000329664:V119I	V	+	1	0	ATP2C1	132138992	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.386000	0.73186	2.816000	0.96949	0.561000	0.74099	GTT		0.333	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		5	192	0	0	0	1	0	5	192				
LMTK2	22853	broad.mit.edu	37	7	97821008	97821008	+	Missense_Mutation	SNP	C	C	T	rs561329062		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821008C>T	ENST00000297293.5	+	11	1524	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	411					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GACTTACCTGCGGCTGCAGAG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		15375	0.001		0.0	False		,,,				2504	0.0					ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1231-1233)Cgg>Tgg		lemur tyrosine kinase 2							63.0	58.0	60.0					7																	97821008		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821008C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1231C>T	7.37:g.97821008C>T	ENSP00000297293:p.Arg411Trp						p.R411W	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1524	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		411					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1231C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936608	0.73442	.	.	ENSG00000164715	ENST00000297293	T	0.62788	-0.0	5.41	3.6	0.41247	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.78059	-0.2352	10	0.48119	T	0.1	.	14.3855	0.66942	0.2686:0.7314:0.0:0.0	.	411	Q8IWU2	LMTK2_HUMAN	W	411	ENSP00000297293:R411W	ENSP00000297293:R411W	R	+	1	2	LMTK2	97658944	1.000000	0.71417	0.829000	0.32907	0.781000	0.44180	4.639000	0.61361	0.767000	0.33267	-0.127000	0.14921	CGG		0.537	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		39	211	0	0	0	1	0	39	211				
ARMC1	55156	broad.mit.edu	37	8	66539594	66539594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66539594C>T	ENST00000276569.3	-	2	284	c.40G>A	c.(40-42)Gct>Act	p.A14T	ARMC1_ENST00000458464.2_5'UTR|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	14					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ACCGATAGAGCGTCAGGCTCT	0.423																																						ENST00000276569.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(40-42)Gct>Act		armadillo repeat containing 1							134.0	124.0	127.0					8																	66539594		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66539594C>T	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.40G>A	8.37:g.66539594C>T	ENSP00000276569:p.Ala14Thr					ARMC1_ENST00000458464.2_5'UTR|ARMC1_ENST00000523384.1_5'UTR	p.A14T	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		2	284	-			14					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.40G>A	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548034	0.86022	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.51071	0.72;0.72;0.72	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.74881	2.28	0.80722	D	1	P	0.48640	0.913	B	0.36378	0.223	T	0.60870	-0.7177	10	0.59425	D	0.04	.	19.6375	0.95740	0.0:1.0:0.0:0.0	.	14	Q9NVT9	ARMC1_HUMAN	T	14	ENSP00000276569:A14T;ENSP00000429191:A14T;ENSP00000429715:A14T	ENSP00000276569:A14T	A	-	1	0	ARMC1	66702148	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.474000	0.81024	2.640000	0.89533	0.655000	0.94253	GCT		0.423	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		96	429	0	0	0	1	0	96	429				
PKD2L2	27039	broad.mit.edu	37	5	137261573	137261573	+	Silent	SNP	C	C	T	rs201437170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137261573C>T	ENST00000508883.1	+	12	1652	c.1626C>T	c.(1624-1626)agC>agT	p.S542S	PKD2L2_ENST00000508638.1_Silent_p.S441S|PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000290431.5_Silent_p.S542S|PKD2L2_ENST00000502810.1_Silent_p.S520S			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	542					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAAAGGCAGCGGAGATTTGG	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		19398	0.001		0.0	False		,,,				2504	0.0					ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1321-1323)agC>agT		polycystic kidney disease 2-like 2							110.0	97.0	101.0					5																	137261573		1822	4077	5899	SO:0001819	synonymous_variant	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137261573C>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1626C>T	5.37:g.137261573C>T						PKD2L2_ENST00000290431.5_Silent_p.S542S|PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000502810.1_Silent_p.S520S|PKD2L2_ENST00000508883.1_Silent_p.S542S	p.S441S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		10	1378	+			542					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37	c.1323C>T																																																																																					0.348	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		14	146	0	0	0	1	0	14	146				
FOXL2NB	401089	broad.mit.edu	37	3	138669383	138669383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669383C>T	ENST00000383165.3	+	3	628	c.497C>T	c.(496-498)gCt>gTt	p.A166V		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		166										large_intestine(1)|lung(3)	4						CGGTGCTTGGCTAGCAAAGGG	0.612																																						ENST00000383165.3																			0				large_intestine(1)|lung(3)	4						c.(496-498)gCt>gTt		chromosome 3 open reading frame 72							83.0	94.0	90.0					3																	138669383		2030	4196	6226	SO:0001583	missense	401089							g.chr3:138669383C>T																												ENST00000383165.3:c.497C>T	3.37:g.138669383C>T	ENSP00000372651:p.Ala166Val						p.A166V	NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN			3	628	+			166					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.497C>T	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	6.740	0.505377	0.12822	.	.	ENSG00000206262	ENST00000383165	.	.	.	3.79	-3.56	0.04626	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.18713	-1.0328	8	0.87932	D	0	.	0.1327	0.00075	0.2483:0.2598:0.1865:0.3054	.	166	Q6ZUU3	CC072_HUMAN	V	166	.	ENSP00000372651:A166V	A	+	2	0	C3orf72	140152073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-1.077000	0.03121	-1.184000	0.01707	GCT		0.612	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			103	393	0	0	0	1	0	103	393				
NLRP3	114548	broad.mit.edu	37	1	247582145	247582145	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247582145C>A	ENST00000336119.3	+	1	795	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L17M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	17	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTGGAGGACCTGGAGGATGT	0.552																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(49-51)Ctg>Atg		NLR family, pyrin domain containing 3							46.0	46.0	46.0					1																	247582145		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582145C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.49C>A	1.37:g.247582145C>A	ENSP00000337383:p.Leu17Met					NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.L17M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M	p.L17M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	829	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	17			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.49C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631923	0.46944	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.49	1.59	0.23543	Pyrin (2);DEATH-like (2);	0.232835	0.22666	N	0.057123	T	0.80639	0.4661	M	0.88241	2.94	0.26695	N	0.971287	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;1.0;0.999;1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	6.5523	0.22442	0.0:0.6946:0.0:0.3054	.	17;17;17;17;17	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	17	ENSP00000375704:L17M;ENSP00000355453:L17M;ENSP00000337383:L17M;ENSP00000294752:L17M;ENSP00000355452:L17M;ENSP00000375703:L17M	ENSP00000337383:L17M	L	+	1	2	NLRP3	245648768	0.045000	0.20229	0.519000	0.27824	0.728000	0.41692	0.354000	0.20146	0.254000	0.21573	-0.258000	0.10820	CTG		0.552	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		44	219	1	0	1.48734e-19	1	1.65976e-19	44	219				
EPX	8288	broad.mit.edu	37	17	56270749	56270749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56270749G>A	ENST00000225371.5	+	3	298	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	63					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R63H(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAGCGGCTTCGCAGCGGTTCA	0.612																																						ENST00000225371.5																			1	Substitution - Missense(1)	p.R63H(1)	large_intestine(1)	breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(187-189)cGc>cAc		eosinophil peroxidase							95.0	95.0	95.0					17																	56270749		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270749G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.188G>A	17.37:g.56270749G>A	ENSP00000225371:p.Arg63His						p.R63H	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			3	298	+			63					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.188G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513668	0.27123	.	.	ENSG00000121053	ENST00000225371	T	0.71103	-0.54	4.86	-6.89	0.01660	.	1.143690	0.06082	N	0.662044	T	0.59321	0.2185	L	0.61387	1.9	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.50915	-0.8771	10	0.52906	T	0.07	-2.2677	3.4732	0.07575	0.4946:0.108:0.2882:0.1092	.	63	P11678	PERE_HUMAN	H	63	ENSP00000225371:R63H	ENSP00000225371:R63H	R	+	2	0	EPX	53625748	0.000000	0.05858	0.015000	0.15790	0.419000	0.31324	-0.761000	0.04751	-1.086000	0.03084	0.549000	0.68633	CGC		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		113	737	0	0	0	1	0	113	737				
DNAJB5	25822	broad.mit.edu	37	9	34993428	34993428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34993428G>A	ENST00000541010.1	+	1	3210	c.198G>A	c.(196-198)caG>caA	p.Q66Q	DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q|DNAJB5_ENST00000312316.5_Silent_p.Q66Q|DNAJB5_ENST00000454002.2_Silent_p.Q138Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	66	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGTATGACCAGTATGGGGAGG	0.552																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(196-198)caG>caA		DnaJ (Hsp40) homolog, subfamily B, member 5							87.0	91.0	90.0					9																	34993428		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34993428G>A	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.198G>A	9.37:g.34993428G>A						DNAJB5_ENST00000454002.2_Silent_p.Q138Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q|DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q|DNAJB5_ENST00000312316.5_Silent_p.Q66Q	p.Q66Q			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		1	3210	+			66			J.		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.198G>A	CCDS35007.1																																																																																				0.552	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			111	456	0	0	0	1	0	111	456				
WBP11P1	441818	broad.mit.edu	37	18	30093647	30093647	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30093647C>A	ENST00000567636.1	+	0	2022					NR_003558.1				WW domain binding protein 11 pseudogene 1																		TCTGCTGTGCCTCTTGCCAAA	0.458																																						ENST00000567636.1																			0																																																			0							g.chr18:30093647C>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30093647C>A								NR_003558.1						0	2022	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.458	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			75	368	1	0	9.07738e-34	1	1.07712e-33	75	368				
RAB6B	51560	broad.mit.edu	37	3	133547691	133547691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133547691C>T	ENST00000285208.4	-	8	917	c.568G>A	c.(568-570)Gac>Aac	p.D190N	RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N|RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	190					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCTTGATGTCGATCACTGCA	0.602																																						ENST00000285208.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						c.(568-570)Gac>Aac		RAB6B, member RAS oncogene family							113.0	124.0	120.0					3																	133547691		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133547691C>T	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.568G>A	3.37:g.133547691C>T	ENSP00000285208:p.Asp190Asn					RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N|RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N	p.D190N	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN			8	917	-			190					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.568G>A	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945765	0.73672	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858	T;T;T	0.61627	0.09;0.09;0.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.29908	0.895	0.80722	D	1	B;B	0.22541	0.03;0.071	B;B	0.17098	0.014;0.017	T	0.33548	-0.9864	10	0.36615	T	0.2	-26.509	19.1662	0.93559	0.0:1.0:0.0:0.0	.	177;190	B7Z337;Q9NRW1	.;RAB6B_HUMAN	N	190;190;177	ENSP00000285208:D190N;ENSP00000437797:D190N;ENSP00000419381:D177N	ENSP00000285208:D190N	D	-	1	0	RAB6B	135030381	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	4.380000	0.59581	2.831000	0.97527	0.561000	0.74099	GAC		0.602	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			206	937	0	0	0	1	0	206	937				
PIPSL	266971	broad.mit.edu	37	10	95720749	95720749	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720749G>A	ENST00000480546.1	-	0	548					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TGAACTCATCGTCGCTGGACA	0.488																																						ENST00000480546.1																			0																																																			0							g.chr10:95720749G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720749G>A								NR_002319.2						0	548	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.488	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		79	266	0	0	0	1	0	79	266				
POLG	5428	broad.mit.edu	37	15	89865049	89865049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89865049G>A	ENST00000268124.5	-	16	2849	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	POLG_ENST00000442287.2_Missense_Mutation_p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	839					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGCAGGATGGCCCCATAGAG	0.622								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(2515-2517)gCc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							59.0	59.0	59.0					15																	89865049		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89865049G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2516C>T	15.37:g.89865049G>A	ENSP00000268124:p.Ala839Val					POLG_ENST00000442287.2_Missense_Mutation_p.A839V	p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		16	2849	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		839					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.2516C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938706	0.92526	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98362	-4.89;-4.89	5.37	5.37	0.77165	DNA-directed DNA polymerase, family A, palm domain (1);	0.103397	0.64402	D	0.000003	D	0.97993	0.9339	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.97162	0.9838	10	0.13108	T	0.6	-20.404	14.6815	0.69020	0.0:0.145:0.855:0.0	.	839	P54098	DPOG1_HUMAN	V	839	ENSP00000268124:A839V;ENSP00000399851:A839V	ENSP00000268124:A839V	A	-	2	0	POLG	87666053	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.478000	0.81082	2.529000	0.85273	0.561000	0.74099	GCC		0.622	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		72	338	0	0	0	1	0	72	338				
HBP1	26959	broad.mit.edu	37	7	106820368	106820368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106820368G>A	ENST00000222574.4	+	2	216	c.30G>A	c.(28-30)atG>atA	p.M10I	HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	10					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAAATCAGATGCCTAATGCAG	0.413																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(28-30)atG>atA		HMG-box transcription factor 1							158.0	151.0	154.0					7																	106820368		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106820368G>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.30G>A	7.37:g.106820368G>A	ENSP00000222574:p.Met10Ile					HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	p.M10I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			2	216	+			10					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.30G>A	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222338	0.39300	.	.	ENSG00000105856	ENST00000468410;ENST00000478930;ENST00000464009;ENST00000222574;ENST00000468401;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99051	-5.37;-5.37;-5.37	5.92	5.92	0.95590	.	0.152031	0.64402	D	0.000014	D	0.97188	0.9081	N	0.24115	0.695	0.48185	D	0.9996	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.19666	0.026;0.005;0.026	D	0.93205	0.6595	10	0.72032	D	0.01	-5.92	20.3214	0.98679	0.0:0.0:1.0:0.0	.	20;10;10	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	I	10;10;10;10;10;10;10;10;2	ENSP00000420500:M10I;ENSP00000222574:M10I;ENSP00000418738:M10I	ENSP00000222574:M10I	M	+	3	0	HBP1	106607604	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.194000	0.65125	2.804000	0.96469	0.655000	0.94253	ATG		0.413	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		40	516	0	0	0	1	0	40	516				
XYLT1	64131	broad.mit.edu	37	16	17352928	17352928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17352928C>T	ENST00000261381.6	-	3	914	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATCTCCTGGCGGCAGTGCTT	0.607																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(829-831)cGc>cAc		xylosyltransferase I							68.0	63.0	65.0					16																	17352928		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17352928C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.830G>A	16.37:g.17352928C>T	ENSP00000261381:p.Arg277His						p.R277H	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	914	-			277					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.830G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823876	0.90873	.	.	ENSG00000103489	ENST00000261381	T	0.07216	3.21	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03306	-1.1050	10	0.87932	D	0	-31.9029	18.2463	0.89986	0.0:1.0:0.0:0.0	.	277	Q86Y38	XYLT1_HUMAN	H	277	ENSP00000261381:R277H	ENSP00000261381:R277H	R	-	2	0	XYLT1	17260429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.988000	0.70579	2.547000	0.85894	0.655000	0.94253	CGC		0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		81	428	0	0	0	1	0	81	428				
TAF1C	9013	broad.mit.edu	37	16	84215021	84215021	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215021G>T	ENST00000567759.1	-	10	1337	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S	TAF1C_ENST00000566732.1_Silent_p.S359S|TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000378541.4_Silent_p.S385S|TAF1C_ENST00000570117.1_Silent_p.S53S	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	385					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCACGAAGAGGAGTCCCGGA	0.657																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1153-1155)tcC>tcA		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							56.0	52.0	53.0					16																	84215021		2200	4300	6500	SO:0001819	synonymous_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215021G>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1155C>A	16.37:g.84215021G>T						TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000570117.1_Silent_p.S53S|TAF1C_ENST00000378541.4_Silent_p.S385S|TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000566732.1_Silent_p.S359S	p.S385S	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			10	1337	-			385					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	c.1155C>A	CCDS32496.1																																																																																				0.657	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		36	171	1	0	7.04047e-22	1	7.94894e-22	36	171				
LOXL2	4017	broad.mit.edu	37	8	23198655	23198655	+	Missense_Mutation	SNP	C	C	T	rs369286803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23198655C>T	ENST00000389131.3	-	4	962	c.593G>A	c.(592-594)cGc>cAc	p.R198H	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	198	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACTGGGGTGCGCTTGCGGTA	0.572													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20913	0.001		0.0	False		,,,				2504	0.0					ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(592-594)cGc>cAc		lysyl oxidase-like 2							160.0	126.0	138.0					8																	23198655		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23198655C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.593G>A	8.37:g.23198655C>T	ENSP00000373783:p.Arg198His					RP11-177H13.2_ENST00000519692.1_RNA	p.R198H	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	4	962	-		Prostate(55;0.0453)|Breast(100;0.143)	198			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.593G>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029717	0.54790	.	.	ENSG00000134013	ENST00000389131	T	0.01258	5.09	5.68	4.81	0.61882	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.051494	0.85682	D	0.000000	T	0.02688	0.0081	M	0.66439	2.03	0.80722	D	1	B	0.33288	0.406	B	0.35240	0.198	T	0.54262	-0.8320	10	0.36615	T	0.2	.	11.5499	0.50715	0.0:0.9169:0.0:0.0831	.	198	Q9Y4K0	LOXL2_HUMAN	H	198	ENSP00000373783:R198H	ENSP00000373783:R198H	R	-	2	0	LOXL2	23254600	1.000000	0.71417	0.662000	0.29724	0.110000	0.19582	6.007000	0.70731	1.400000	0.46741	0.655000	0.94253	CGC		0.572	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			100	487	0	0	0	1	0	100	487				
SORBS1	10580	broad.mit.edu	37	10	97096906	97096906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97096906G>A	ENST00000361941.3	-	28	3037	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1004I|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000354106.3_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAAGGGTGGGGTCAGGGCCAG	0.637																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3010-3012)aCc>aTc		sorbin and SH3 domain containing 1							34.0	38.0	36.0					10																	97096906		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096906G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3011C>T	10.37:g.97096906G>A	ENSP00000355136:p.Thr1004Ile					SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.T1004I|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000353505.5_Intron	p.T1004I			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	30	3200	-		Colorectal(252;0.0429)	1004						Missense_Mutation	SNP	ENST00000361941.3	37	c.3011C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653179	0.88056	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.10668	2.87;2.85;2.87	5.58	5.58	0.84498	.	0.000000	0.43579	D	0.000555	T	0.20170	0.0485	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.13818	-1.0495	10	0.17832	T	0.49	-13.6303	19.5597	0.95367	0.0:0.0:1.0:0.0	.	958;1004	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	I	1004;958;1004	ENSP00000360293:T1004I;ENSP00000360271:T958I;ENSP00000355136:T1004I	ENSP00000355136:T1004I	T	-	2	0	SORBS1	97086896	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.188000	0.94921	2.641000	0.89580	0.561000	0.74099	ACC		0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			21	216	0	0	0	1	0	21	216				
KIAA1598	57698	broad.mit.edu	37	10	118738814	118738814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738814C>A	ENST00000355371.4	-	2	561	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C|KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C|KIAA1598_ENST00000392901.4_De_novo_Start_OutOfFrame	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCATATTCGCCTATTGCTAAA	0.398																																						ENST00000392901.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10								KIAA1598							114.0	109.0	110.0					10																	118738814		2203	4300	6503	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118738814C>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.64G>T	10.37:g.118738814C>A	ENSP00000347532:p.Gly22Cys					KIAA1598_ENST00000355371.4_Missense_Mutation_p.G22C|KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C|KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C		NM_001258300.1	NP_001245229.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	0	351	-								A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Translation_Start_Site	SNP	ENST00000355371.4	37		CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836339	0.71373	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	D;D;D	0.91631	-2.88;-2.88;-2.88	6.07	6.07	0.98685	.	0.291016	0.34362	N	0.004035	D	0.92721	0.7686	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93178	0.6572	10	0.59425	D	0.04	-10.5094	16.1594	0.81686	0.0:1.0:0.0:0.0	.	22;22	A0MZ66;A0MZ66-2	SHOT1_HUMAN;.	C	22	ENSP00000376636:G22C;ENSP00000260777:G22C;ENSP00000347532:G22C	ENSP00000260777:G22C	G	-	1	0	KIAA1598	118728804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.029000	0.57253	2.885000	0.99019	0.655000	0.94253	GGC		0.398	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		39	253	1	0	8.16904e-11	1	8.68463e-11	39	253				
CMYA5	202333	broad.mit.edu	37	5	79034343	79034343	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034343C>A	ENST00000446378.2	+	2	9786	c.9755C>A	c.(9754-9756)tCt>tAt	p.S3252Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3252					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATGACACATCTCTAACTCAA	0.423																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(9754-9756)tCt>tAt		cardiomyopathy associated 5							78.0	76.0	77.0					5																	79034343		1891	4117	6008	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79034343C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9755C>A	5.37:g.79034343C>A	ENSP00000394770:p.Ser3252Tyr						p.S3252Y	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	9786	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3252					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.9755C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450866	0.43531	.	.	ENSG00000164309	ENST00000446378	T	0.29397	1.57	5.78	4.9	0.64082	.	0.275088	0.26428	N	0.024434	T	0.39253	0.1071	L	0.60455	1.87	0.09310	N	1	D	0.61080	0.989	P	0.55667	0.781	T	0.40590	-0.9555	10	0.87932	D	0	.	4.5866	0.12285	0.1603:0.602:0.1544:0.0834	.	3252	Q8N3K9	CMYA5_HUMAN	Y	3252	ENSP00000394770:S3252Y	ENSP00000394770:S3252Y	S	+	2	0	CMYA5	79070099	0.070000	0.21116	1.000000	0.80357	0.990000	0.78478	0.886000	0.28241	1.426000	0.47256	0.655000	0.94253	TCT		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		37	210	1	0	1.59361e-14	1	1.73214e-14	37	210				
CEP290	80184	broad.mit.edu	37	12	88449353	88449353	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88449353C>T	ENST00000552810.1	-	50	7303	c.6960G>A	c.(6958-6960)caG>caA	p.Q2320Q	CEP290_ENST00000547691.2_Splice_Site_p.Q1380Q|CEP290_ENST00000309041.7_Splice_Site_p.Q2322Q|CEP290_ENST00000397838.3_Splice_Site_p.Q1380Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2320					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGTTACTTACCTGTTGTTCAA	0.294																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.e50+1		centrosomal protein 290kDa							208.0	193.0	198.0					12																	88449353		1838	4078	5916	SO:0001630	splice_region_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88449353C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.6960+1G>A	12.37:g.88449353C>T						CEP290_ENST00000309041.7_Splice_Site_p.Q2322_splice|CEP290_ENST00000547691.2_Splice_Site_p.Q1380_splice|CEP290_ENST00000397838.3_Splice_Site_p.Q1380_splice	p.Q2320_splice	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			50	7303	-			2320					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Splice_Site	SNP	ENST00000552810.1	37	c.6960_splice	CCDS55858.1																																																																																				0.294	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	Silent	4	26	0	0	0	1	0	4	26				
ZNF484	83744	broad.mit.edu	37	9	95609118	95609118	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95609118G>T	ENST00000375495.3	-	5	2099	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	ZNF484_ENST00000395505.2_Missense_Mutation_p.L615I|ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGTGTAAAGAGATTTGATCTG	0.423																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1843-1845)Ctc>Atc		zinc finger protein 484							83.0	84.0	84.0					9																	95609118		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609118G>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1951C>A	9.37:g.95609118G>T	ENSP00000364645:p.Leu651Ile					ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.L651I|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I	p.L615I	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1935	-			651					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1843C>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107570	0.37145	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69922	0.3165	M	0.84846	2.72	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.91635	0.999;0.999	T	0.55829	-0.8079	9	0.62326	D	0.03	.	5.0637	0.14570	0.1664:0.0:0.8336:0.0	.	653;651	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	615;653;651;615	ENSP00000378881:L615I;ENSP00000378882:L653I;ENSP00000364645:L651I;ENSP00000364646:L615I	ENSP00000364646:L615I	L	-	1	0	ZNF484	94648939	0.999000	0.42202	1.000000	0.80357	0.905000	0.53344	3.262000	0.51538	1.622000	0.50330	0.551000	0.68910	CTC		0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		38	389	1	0	9.62906e-15	1	1.04819e-14	38	389				
BAI1	575	broad.mit.edu	37	8	143607953	143607953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143607953C>T	ENST00000517894.1	+	24	4257	c.3363C>T	c.(3361-3363)gaC>gaT	p.D1121D	BAI1_ENST00000323289.5_Silent_p.D1121D			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1121					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGTCCAAAGACGGCATCACGG	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3361-3363)gaC>gaT		brain-specific angiogenesis inhibitor 1							36.0	42.0	40.0					8																	143607953		1981	4154	6135	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143607953C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3363C>T	8.37:g.143607953C>T						BAI1_ENST00000323289.5_Silent_p.D1121D	p.D1121D			O14514	BAI1_HUMAN			24	4257	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1121						Silent	SNP	ENST00000517894.1	37	c.3363C>T																																																																																					0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		17	96	0	0	0	1	0	17	96				
NRXN1	9378	broad.mit.edu	37	2	50724826	50724826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50724826G>A	ENST00000406316.2	-	14	4000	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.L882L|NRXN1_ENST00000406859.3_Silent_p.L842L|NRXN1_ENST00000402717.3_Silent_p.L834L|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000405472.3_Silent_p.L834L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	842	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGAACTCCAGCCTAGTATGA	0.388																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2644-2646)Ctg>Ttg		neurexin 1							83.0	76.0	78.0					2																	50724826		1907	4119	6026	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724826G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2524C>T	2.37:g.50724826G>A						NRXN1_ENST00000406859.3_Silent_p.L842L|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.L834L|NRXN1_ENST00000406316.2_Silent_p.L842L|NRXN1_ENST00000402717.3_Silent_p.L834L	p.L882L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	3983	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	842			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2644C>T	CCDS54360.1																																																																																				0.388	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			53	265	0	0	0	1	0	53	265				
KCTD18	130535	broad.mit.edu	37	2	201355148	201355148	+	Missense_Mutation	SNP	C	C	T	rs201870494		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355148C>T	ENST00000359878.3	-	7	1466	c.956G>A	c.(955-957)cGc>cAc	p.R319H	KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	319					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCCTTTCTGCGGCTACCACT	0.632																																						ENST00000359878.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(955-957)cGc>cAc		potassium channel tetramerization domain containing 18							36.0	40.0	38.0					2																	201355148		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201355148C>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.956G>A	2.37:g.201355148C>T	ENSP00000352941:p.Arg319His					KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H	p.R319H	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			7	1466	-			319					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.956G>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932449	0.18131	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.34275	1.37;1.37	3.3	-0.435	0.12279	.	3.470240	0.00839	N	0.001735	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08722	-1.0708	10	0.25751	T	0.34	-0.0013	2.148	0.03792	0.2456:0.3222:0.0:0.4322	.	319	Q6PI47	KCD18_HUMAN	H	319	ENSP00000352941:R319H;ENSP00000386751:R319H	ENSP00000352941:R319H	R	-	2	0	KCTD18	201063393	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.366000	0.07563	-0.199000	0.10317	0.655000	0.94253	CGC		0.632	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		100	273	0	0	0	1	0	100	273				
TIPIN	54962	broad.mit.edu	37	15	66633578	66633578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66633578C>T	ENST00000261881.4	-	7	677	c.592G>A	c.(592-594)Gag>Aag	p.E198K	TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	198					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TGTTGTTGCTCTTCTGTTAGG	0.373																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(592-594)Gag>Aag		TIMELESS interacting protein							113.0	105.0	108.0					15																	66633578		2201	4299	6500	SO:0001583	missense	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66633578C>T	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.592G>A	15.37:g.66633578C>T	ENSP00000261881:p.Glu198Lys					TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	p.E198K	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN			7	677	-			198					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.592G>A	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441037	0.96168	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.32753	1.44;1.88	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.53933	-0.8368	10	0.72032	D	0.01	-11.8662	18.1069	0.89523	0.0:1.0:0.0:0.0	.	198	Q9BVW5	TIPIN_HUMAN	K	97;198	ENSP00000356682:E97K;ENSP00000261881:E198K	ENSP00000261881:E198K	E	-	1	0	TIPIN	64420632	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.448000	0.60027	2.530000	0.85305	0.557000	0.71058	GAG		0.373	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		34	344	0	0	0	1	0	34	344				
FGFBP2	83888	broad.mit.edu	37	4	15964616	15964616	+	Missense_Mutation	SNP	C	C	T	rs368622889		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964616C>T	ENST00000259989.6	-	1	243	c.137G>A	c.(136-138)cGt>cAt	p.R46H	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	46						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGCTGGGACGCATAGTGCA	0.597																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(136-138)cGt>cAt		fibroblast growth factor binding protein 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	59.0	62.0		137	0.9	0.0	4		62	0,8600		0,0,4300	no	missense	FGFBP2	NM_031950.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	46/224	15964616	1,13005	2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964616C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.137G>A	4.37:g.15964616C>T	ENSP00000259989:p.Arg46His					FGFBP2_ENST00000509331.1_Intron	p.R46H	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	243	-			46						Missense_Mutation	SNP	ENST00000259989.6	37	c.137G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	4.346	0.063603	0.08388	2.27E-4	0.0	ENSG00000137441	ENST00000259989	T	0.15139	2.45	2.72	0.874	0.19124	.	0.431013	0.19984	U	0.101701	T	0.08980	0.0222	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.20767	0.031	T	0.22800	-1.0206	10	0.49607	T	0.09	-4.2113	4.086	0.09947	0.0:0.5639:0.194:0.2421	.	46	Q9BYJ0	FGFP2_HUMAN	H	46	ENSP00000259989:R46H	ENSP00000259989:R46H	R	-	2	0	FGFBP2	15573714	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	-1.167000	0.03126	0.125000	0.18397	-0.142000	0.14014	CGT		0.597	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		8	278	0	0	0	1	0	8	278				
RPL34	6164	broad.mit.edu	37	4	109546294	109546294	+	Missense_Mutation	SNP	G	G	A	rs148986705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109546294G>A	ENST00000394668.2	+	5	346	c.280G>A	c.(280-282)Gct>Act	p.A94T	RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000394665.1_Missense_Mutation_p.A94T|RPL34_ENST00000502534.1_Missense_Mutation_p.A94T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GATCAAGCGTGCTTTCCTTAT	0.323																																						ENST00000394668.2																			0				kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(280-282)Gct>Act		ribosomal protein L34		G	THR/ALA,THR/ALA	0,4406		0,0,2203	46.0	48.0	47.0		280,280	4.6	1.0	4	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPL34	NM_000995.3,NM_033625.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	94/118,94/118	109546294	1,13005	2203	4300	6503	SO:0001583	missense	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109546294G>A	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"""L ribosomal proteins"""	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.280G>A	4.37:g.109546294G>A	ENSP00000378163:p.Ala94Thr					RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000502534.1_Missense_Mutation_p.A94T|RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000394665.1_Missense_Mutation_p.A94T	p.A94T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	5	346	+		Hepatocellular(203;0.217)	94					Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	c.280G>A	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025344	0.93518	0.0	1.16E-4	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	H	0.94183	3.505	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.90789	0.4685	9	0.87932	D	0	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	94	P49207	RL34_HUMAN	T	94	.	ENSP00000378160:A94T	A	+	1	0	RPL34	109765743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.364000	0.97136	2.278000	0.76064	0.655000	0.94253	GCT		0.323	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		14	127	0	0	0	1	0	14	127				
IRX2	153572	broad.mit.edu	37	5	2749890	2749890	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749890G>A	ENST00000382611.6	-	2	509	c.261C>T	c.(259-261)taC>taT	p.Y87Y	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.Y87Y|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	87					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGTGCGCGTCGTAGGGTGCGC	0.692																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(259-261)taC>taT		iroquois homeobox 2							47.0	52.0	50.0					5																	2749890		2203	4299	6502	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749890G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.261C>T	5.37:g.2749890G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.Y87Y	p.Y87Y	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	509	-			87					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.261C>T	CCDS3868.1																																																																																				0.692	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			42	279	0	0	0	1	0	42	279				
TMEM132B	114795	broad.mit.edu	37	12	126138750	126138750	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126138750G>T	ENST00000299308.3	+	9	2739	c.2731G>T	c.(2731-2733)Gcc>Tcc	p.A911S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	911						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTCTGTCTGGCCATTCTGGT	0.527																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2731-2733)Gcc>Tcc		transmembrane protein 132B							98.0	96.0	97.0					12																	126138750		2035	4221	6256	SO:0001583	missense	114795					integral to membrane		g.chr12:126138750G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2731G>T	12.37:g.126138750G>T	ENSP00000299308:p.Ala911Ser					TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	p.A911S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2739	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		911					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2731G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282492	0.80692	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.23348	1.91;1.91	5.43	5.43	0.79202	.	0.093223	0.47093	N	0.000257	T	0.55862	0.1947	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.60895	-0.7172	10	0.87932	D	0	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	911	Q14DG7	T132B_HUMAN	S	911;423	ENSP00000299308:A911S;ENSP00000440436:A423S	ENSP00000299308:A911S	A	+	1	0	TMEM132B	124704703	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.576000	0.98192	2.543000	0.85770	0.655000	0.94253	GCC		0.527	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		71	443	1	0	6.00099e-30	1	7.02477e-30	71	443				
ADNP2	22850	broad.mit.edu	37	18	77896474	77896474	+	Missense_Mutation	SNP	G	G	T	rs373960178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896474G>T	ENST00000262198.4	+	4	3633	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1060					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTTCTTAAAGATTATTTCCA	0.348																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3178-3180)Gat>Tat		ADNP homeobox 2							44.0	49.0	47.0					18																	77896474		2200	4297	6497	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896474G>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3178G>T	18.37:g.77896474G>T	ENSP00000262198:p.Asp1060Tyr						p.D1060Y	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3633	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1060					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.3178G>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404616	0.42613	.	.	ENSG00000101544	ENST00000262198	D	0.92199	-2.99	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.159508	0.43579	D	0.000542	D	0.93719	0.7993	L	0.54323	1.7	0.39665	D	0.970677	D	0.76494	0.999	D	0.69479	0.964	D	0.93066	0.6478	9	.	.	.	-27.2568	11.4188	0.49969	0.0823:0.0:0.9177:0.0	.	1060	Q6IQ32	ADNP2_HUMAN	Y	1060	ENSP00000262198:D1060Y	.	D	+	1	0	ADNP2	75997465	0.999000	0.42202	1.000000	0.80357	0.889000	0.51656	3.598000	0.54038	2.482000	0.83794	0.561000	0.74099	GAT		0.348	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		51	253	1	0	3.21987e-24	1	3.67739e-24	51	253				
LRRC37B	114659	broad.mit.edu	37	17	30361959	30361959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30361959C>T	ENST00000341671.7	+	6	2012	c.2007C>T	c.(2005-2007)gtC>gtT	p.V669V	LRRC37B_ENST00000327564.7_Silent_p.V696V|LRRC37B_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000543378.2_Silent_p.V587V|LRRC37B_ENST00000394713.3_Silent_p.V618V	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	669						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGACTACTGTCGAAGATCCAT	0.318																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2086-2088)gtC>gtT		leucine rich repeat containing 37B							59.0	56.0	57.0					17																	30361959		2203	4297	6500	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30361959C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2007C>T	17.37:g.30361959C>T						LRRC37B_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000543378.2_Silent_p.V587V|LRRC37B_ENST00000394713.3_Silent_p.V618V|LRRC37B_ENST00000341671.7_Silent_p.V669V	p.V696V			Q96QE4	LR37B_HUMAN			6	2149	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	669					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.2088C>T	CCDS32609.1																																																																																				0.318	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		21	209	0	0	0	1	0	21	209				
MED12L	116931	broad.mit.edu	37	3	150881752	150881752	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150881752G>T	ENST00000474524.1	+	8	1218	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C	MED12L_ENST00000309237.4_Missense_Mutation_p.G394C|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.G394C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	394						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCAAACCCAGGCTCACCCCT	0.502																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1180-1182)Ggc>Tgc		mediator complex subunit 12-like							62.0	59.0	60.0					3																	150881752		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150881752G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1180G>T	3.37:g.150881752G>T	ENSP00000417235:p.Gly394Cys					MED12L_ENST00000422248.2_Missense_Mutation_p.G394C|MED12L_ENST00000309237.4_Missense_Mutation_p.G394C|MED12L_ENST00000273432.4_Intron	p.G394C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		8	1218	+			394					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1180G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698430	0.88830	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.62941	-0.01;-0.01;-0.01	5.02	5.02	0.67125	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86013	0.1502	10	0.87932	D	0	-15.4266	17.9376	0.89017	0.0:0.0:1.0:0.0	.	394;394;394	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	C	394	ENSP00000403308:G394C;ENSP00000310760:G394C;ENSP00000417235:G394C	ENSP00000310760:G394C	G	+	1	0	MED12L	152364442	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.950000	0.93019	2.317000	0.78254	0.655000	0.94253	GGC		0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	330	1	0	5.4927e-09	1	5.7613e-09	9	330				
AIFM2	84883	broad.mit.edu	37	10	71880912	71880912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71880912C>T	ENST00000307864.1	-	4	563	c.350G>A	c.(349-351)gGc>gAc	p.G117D	AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D|AIFM2_ENST00000482166.1_5'Flank	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	117					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATTAAACTTGCCCGGGAAGGG	0.517																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(349-351)gGc>gAc		apoptosis-inducing factor, mitochondrion-associated, 2							63.0	61.0	62.0					10																	71880912		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71880912C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.350G>A	10.37:g.71880912C>T	ENSP00000312370:p.Gly117Asp					AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D	p.G117D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			4	563	-			117					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.350G>A	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209168	0.95069	.	.	ENSG00000042286	ENST00000373248;ENST00000307864	T;T	0.63417	-0.04;-0.04	6.17	6.17	0.99709	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.76328	2.33	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.79997	-0.1567	10	0.66056	D	0.02	-36.0769	20.4898	0.99202	0.0:1.0:0.0:0.0	.	117	Q9BRQ8	AIFM2_HUMAN	D	117	ENSP00000362345:G117D;ENSP00000312370:G117D	ENSP00000312370:G117D	G	-	2	0	AIFM2	71550918	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.639000	0.74314	2.941000	0.99782	0.655000	0.94253	GGC		0.517	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		67	315	0	0	0	1	0	67	315				
KLF5	688	broad.mit.edu	37	13	73636671	73636671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:73636671C>T	ENST00000377687.4	+	2	1470	c.934C>T	c.(934-936)Cca>Tca	p.P312S	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P221S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	312					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCCTGGAAGTCCAGATAGACA	0.493																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(934-936)Cca>Tca		Kruppel-like factor 5 (intestinal)							137.0	114.0	122.0					13																	73636671		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636671C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.934C>T	13.37:g.73636671C>T	ENSP00000366915:p.Pro312Ser					KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P221S	p.P312S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1470	+		Prostate(6;0.00187)|Breast(118;0.0735)	312					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.934C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656232	0.67586	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.12039	2.96;2.72	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00468	-1.1721	10	0.54805	T	0.06	.	20.3085	0.98641	0.0:1.0:0.0:0.0	.	312	Q13887	KLF5_HUMAN	S	221;312;292	ENSP00000440407:P221S;ENSP00000366915:P312S	ENSP00000366915:P312S	P	+	1	0	KLF5	72534672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.797000	0.96272	0.555000	0.69702	CCA		0.493	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			61	413	0	0	0	1	0	61	413				
MME	4311	broad.mit.edu	37	3	154832830	154832830	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154832830G>T	ENST00000460393.1	+	4	364	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	MME_ENST00000477669.1_3'UTR|MME_ENST00000462745.1_Missense_Mutation_p.D82Y|MME_ENST00000492661.1_Missense_Mutation_p.D82Y|MME_ENST00000360490.2_Missense_Mutation_p.D82Y|MME_ENST00000493237.1_Missense_Mutation_p.D82Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	82					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCCTTGTACAGACTTTTTCAA	0.433																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(244-246)Gac>Tac		membrane metallo-endopeptidase	Candoxatril(DB00616)						125.0	119.0	121.0					3																	154832830		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154832830G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.244G>T	3.37:g.154832830G>T	ENSP00000418525:p.Asp82Tyr					MME_ENST00000493237.1_Missense_Mutation_p.D82Y|MME_ENST00000492661.1_Missense_Mutation_p.D82Y|MME_ENST00000477669.1_3'UTR|MME_ENST00000462745.1_Missense_Mutation_p.D82Y|MME_ENST00000360490.2_Missense_Mutation_p.D82Y	p.D82Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		4	364	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	82					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.244G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735744	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	D;D;D;D;D;D;D;D;D	0.90676	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.71;-2.11	5.46	4.59	0.56863	Peptidase M13 (1);	0.096412	0.64402	D	0.000001	D	0.95072	0.8404	M	0.86178	2.8	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	D	0.95214	0.8328	10	0.87932	D	0	-26.8909	11.3533	0.49600	0.1454:0.0:0.8546:0.0	.	82	P08473	NEP_HUMAN	Y	82	ENSP00000420389:D82Y;ENSP00000418525:D82Y;ENSP00000420101:D82Y;ENSP00000419653:D82Y;ENSP00000417079:D82Y;ENSP00000353679:D82Y;ENSP00000418791:D82Y;ENSP00000420542:D82Y;ENSP00000417595:D82Y	ENSP00000353679:D82Y	D	+	1	0	MME	156315524	1.000000	0.71417	0.914000	0.36105	0.986000	0.74619	4.263000	0.58853	1.328000	0.45358	0.561000	0.74099	GAC		0.433	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		42	558	1	0	6.5261e-18	1	7.22248e-18	42	558				
FRY	10129	broad.mit.edu	37	13	32745346	32745346	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745346A>C	ENST00000380250.3	+	18	2586	c.2090A>C	c.(2089-2091)aAa>aCa	p.K697T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	697						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCCAGTGGAAACTAGTCATC	0.418																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2089-2091)aAa>aCa		furry homolog (Drosophila)							73.0	70.0	71.0					13																	32745346		1957	4181	6138	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32745346A>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2090A>C	13.37:g.32745346A>C	ENSP00000369600:p.Lys697Thr						p.K697T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	18	2586	+		Lung SC(185;0.0271)	697					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.2090A>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475064	0.63737	.	.	ENSG00000073910	ENST00000380250	T	0.26373	1.74	6.16	6.16	0.99307	.	0.095708	0.64402	D	0.000001	T	0.31295	0.0792	M	0.63843	1.955	0.80722	D	1	B	0.21606	0.058	B	0.30495	0.116	T	0.10520	-1.0626	10	0.14656	T	0.56	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	697	Q5TBA9	FRY_HUMAN	T	697	ENSP00000369600:K697T	ENSP00000369600:K697T	K	+	2	0	FRY	31643346	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.940000	0.56599	2.367000	0.80283	0.528000	0.53228	AAA		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		9	271	0	0	0	1	0	9	271				
PKD1	5310	broad.mit.edu	37	16	2168110	2168110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168110C>T	ENST00000262304.4	-	5	1091	c.883G>A	c.(883-885)Gct>Act	p.A295T	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A295T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	295	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCGGGGCAGCGATGTGGAAG	0.711																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(883-885)Gct>Act		polycystic kidney disease 1 (autosomal dominant)							6.0	8.0	8.0					16																	2168110		2039	4114	6153	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2168110C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.883G>A	16.37:g.2168110C>T	ENSP00000262304:p.Ala295Thr					PKD1_ENST00000423118.1_Missense_Mutation_p.A295T	p.A295T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			5	1091	-			295			PKD 1.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.883G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.622001	0.00820	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.60548	0.18;0.18	4.78	1.04	0.20106	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.664574	0.14722	N	0.302282	T	0.25382	0.0617	N	0.02708	-0.52	0.09310	N	1	B;B	0.21309	0.002;0.054	B;B	0.13407	0.001;0.009	T	0.24083	-1.0170	10	0.07990	T	0.79	.	7.8225	0.29296	0.0:0.3811:0.0:0.6189	.	295;295	P98161-3;P98161	.;PKD1_HUMAN	T	295;295;228	ENSP00000262304:A295T;ENSP00000399501:A295T	ENSP00000262304:A295T	A	-	1	0	PKD1	2108111	0.091000	0.21658	0.000000	0.03702	0.464000	0.32679	0.595000	0.24029	-0.086000	0.12550	0.444000	0.29173	GCT		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			30	116	0	0	0	1	0	30	116				
EPB41L3	23136	broad.mit.edu	37	18	5415823	5415823	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5415823C>A	ENST00000341928.2	-	13	2401	c.2061G>T	c.(2059-2061)gaG>gaT	p.E687D	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	687	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACACCTCTTCCTCTGAACTGT	0.567																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2059-2061)gaG>gaT		erythrocyte membrane protein band 4.1-like 3							73.0	74.0	74.0					18																	5415823		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415823C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2061G>T	18.37:g.5415823C>A	ENSP00000343158:p.Glu687Asp					EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron	p.E687D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2401	-			687			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2061G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174364	0.57692	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82167	-1.58;-1.58	5.65	5.65	0.86999	.	0.356014	0.28889	N	0.013812	T	0.71187	0.3310	N	0.14661	0.345	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.66056	-0.6018	10	0.36615	T	0.2	.	14.5656	0.68173	0.1461:0.8539:0.0:0.0	.	687	Q9Y2J2	E41L3_HUMAN	D	687	ENSP00000343158:E687D;ENSP00000341138:E687D	ENSP00000343158:E687D	E	-	3	2	EPB41L3	5405823	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.704000	0.61831	2.655000	0.90218	0.655000	0.94253	GAG		0.567	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		70	218	1	0	4.98926e-31	1	5.86552e-31	70	218				
ARRDC1-AS1	85026	broad.mit.edu	37	9	140510210	140510210	+	Missense_Mutation	SNP	G	G	A	rs377174218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140510210G>A	ENST00000371417.3	-	3	982	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		148										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGGTCCCTCCGACAGGAGACC	0.672																																						ENST00000371417.3																			0				breast(1)|large_intestine(2)	3						c.(442-444)Cgg>Tgg		chromosome 9 open reading frame 37		G	TRP/ARG	0,4404		0,0,2202	32.0	30.0	31.0		442	-3.6	0.0	9		31	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf37	NM_032937.4	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	148/177	140510210	1,13003	2202	4300	6502	SO:0001583	missense	85026							g.chr9:140510210G>A																												ENST00000371417.3:c.442C>T	9.37:g.140510210G>A	ENSP00000360471:p.Arg148Trp					C9orf37_ENST00000496793.1_5'UTR	p.R148W	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	3	982	-	all_cancers(76;0.106)		148					Q17RM5|Q5T368	Missense_Mutation	SNP	ENST00000371417.3	37	c.442C>T	CCDS35189.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111259	0.20714	0.0	1.16E-4	ENSG00000203993	ENST00000371417	.	.	.	1.8	-3.61	0.04556	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	8	0.87932	D	0	.	3.1811	0.06584	0.2721:0.0:0.4737:0.2542	.	148	Q9H2J1	CI037_HUMAN	W	148	.	ENSP00000360471:R148W	R	-	1	2	C9orf37	139630031	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.872000	0.01639	-0.726000	0.04895	-0.734000	0.03567	CGG		0.672	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1			36	146	0	0	0	1	0	36	146				
KIAA0195	9772	broad.mit.edu	37	17	73494356	73494356	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494356G>T	ENST00000314256.7	+	28	3984	c.3590G>T	c.(3589-3591)aGc>aTc	p.S1197I	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1197						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGTGACAGCTCCCGGGAC	0.612																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3589-3591)aGc>aTc		KIAA0195							107.0	85.0	92.0					17																	73494356		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73494356G>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3590G>T	17.37:g.73494356G>T	ENSP00000313885:p.Ser1197Ile					KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I	p.S1197I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		28	3984	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1197					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3590G>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223097	0.09863	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96300	-3.97;-3.97	5.58	2.12	0.27331	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.295187	0.38897	N	0.001525	D	0.83184	0.5199	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.12630	0.0;0.001;0.006;0.001	B;B;B;B	0.11329	0.001;0.001;0.006;0.001	T	0.72121	-0.4386	10	0.16420	T	0.52	-15.048	1.103	0.01688	0.1932:0.1406:0.3847:0.2815	.	1207;1207;1197;1197	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	I	1197;1207	ENSP00000313885:S1197I;ENSP00000364397:S1207I	ENSP00000313885:S1197I	S	+	2	0	KIAA0195	71005951	0.013000	0.17824	0.950000	0.38849	0.072000	0.16883	0.325000	0.19628	1.370000	0.46153	0.313000	0.20887	AGC		0.612	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		76	317	1	0	2.73218e-42	1	3.32585e-42	76	317				
SLIT2	9353	broad.mit.edu	37	4	20544182	20544182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20544182G>T	ENST00000504154.1	+	21	2461	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F|SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	737	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTGGATACAGTCGTCCGATG	0.413																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2209-2211)Gtc>Ttc		slit homolog 2 (Drosophila)							318.0	296.0	303.0					4																	20544182		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20544182G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2209G>T	4.37:g.20544182G>T	ENSP00000422591:p.Val737Phe					SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F	p.V737F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			21	2461	+			737			LRRNT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2209G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783288	0.70222	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	0.962;1.0	B;D	0.87578	0.431;0.998	T	0.47736	-0.9094	10	0.72032	D	0.01	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	729;737	O94813-3;O94813	.;SLIT2_HUMAN	F	729;737;741;733;733	ENSP00000427548:V729F;ENSP00000422591:V737F;ENSP00000273739:V741F;ENSP00000422261:V733F	ENSP00000273739:V741F	V	+	1	0	SLIT2	20153280	1.000000	0.71417	0.213000	0.23690	0.243000	0.25628	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	GTC		0.413	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			259	1091	1	0	6.08379e-84	1	7.79258e-84	259	1091				
SOCS5	9655	broad.mit.edu	37	2	46987060	46987060	+	Missense_Mutation	SNP	C	C	T	rs149307689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46987060C>T	ENST00000306503.5	+	2	1563	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	464	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.S464L(3)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATCCCAGTTCGTGCATGTTT	0.438																																						ENST00000306503.5																			3	Substitution - Missense(3)	p.S464L(3)	large_intestine(2)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1390-1392)tCg>tTg		suppressor of cytokine signaling 5		C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	111.0	106.0	107.0		1391,1391	4.6	1.0	2	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SOCS5	NM_014011.4,NM_144949.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	464/537,464/537	46987060	1,13005	2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46987060C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1391C>T	2.37:g.46987060C>T	ENSP00000305133:p.Ser464Leu					SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1563	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	464			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1391C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781752	0.70222	2.27E-4	0.0	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32272	1.46;1.46	5.43	4.55	0.56014	SH2 motif (3);	0.055880	0.64402	D	0.000001	T	0.13072	0.0317	N	0.01352	-0.895	0.53005	D	0.999961	B	0.19583	0.037	B	0.12837	0.008	T	0.07252	-1.0782	10	0.41790	T	0.15	-20.7869	15.4335	0.75125	0.1399:0.8601:0.0:0.0	.	464	O75159	SOCS5_HUMAN	L	464	ENSP00000305133:S464L;ENSP00000378330:S464L	ENSP00000305133:S464L	S	+	2	0	SOCS5	46840564	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.651000	0.83577	1.514000	0.48869	0.655000	0.94253	TCG		0.438	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			18	687	0	0	0	1	0	18	687				
PSMC4	5704	broad.mit.edu	37	19	40485876	40485876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40485876G>A	ENST00000157812.2	+	7	1024	c.826G>A	c.(826-828)Gat>Aat	p.D276N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAAGAGATTCGATGCTCAGAC	0.582																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(826-828)Gat>Aat		proteasome (prosome, macropain) 26S subunit, ATPase, 4							70.0	67.0	68.0					19																	40485876		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40485876G>A	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.826G>A	19.37:g.40485876G>A	ENSP00000157812:p.Asp276Asn					PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	p.D276N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			7	1024	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		276					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.826G>A	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327241	0.60743	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94966	-3.57;-3.57	5.92	4.89	0.63831	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.723;0.999	D	0.95885	0.8902	10	0.72032	D	0.01	-5.2356	12.746	0.57281	0.079:0.0:0.921:0.0	.	245;276	P43686-2;P43686	.;PRS6B_HUMAN	N	276;245	ENSP00000157812:D276N;ENSP00000413869:D245N	ENSP00000157812:D276N	D	+	1	0	PSMC4	45177716	1.000000	0.71417	0.711000	0.30485	0.045000	0.14185	9.588000	0.98232	1.517000	0.48917	0.561000	0.74099	GAT		0.582	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		42	135	0	0	0	1	0	42	135				
TRAM1L1	133022	broad.mit.edu	37	4	118006158	118006158	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118006158A>C	ENST00000310754.4	-	1	578	c.392T>G	c.(391-393)tTt>tGt	p.F131C		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	131	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AATACAAGAAAAAAAGTAGAA	0.378																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(391-393)tTt>tGt		translocation associated membrane protein 1-like 1							76.0	72.0	73.0					4																	118006158		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006158A>C	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.392T>G	4.37:g.118006158A>C	ENSP00000309402:p.Phe131Cys						p.F131C	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	578	-			131			TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.392T>G	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285381	0.23478	.	.	ENSG00000174599	ENST00000310754	D	0.86366	-2.11	4.29	3.1	0.35709	TRAM/LAG1/CLN8 homology domain (3);	0.153083	0.64402	D	0.000015	D	0.87418	0.6172	L	0.36672	1.1	0.37683	D	0.923555	D	0.58620	0.983	D	0.63793	0.918	D	0.87434	0.2390	10	0.56958	D	0.05	-27.7925	8.2484	0.31702	0.9029:0.0:0.0971:0.0	.	131	Q8N609	TR1L1_HUMAN	C	131	ENSP00000309402:F131C	ENSP00000309402:F131C	F	-	2	0	TRAM1L1	118225606	1.000000	0.71417	0.008000	0.14137	0.005000	0.04900	6.273000	0.72581	0.970000	0.38263	0.533000	0.62120	TTT		0.378	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		71	306	0	0	0	1	0	71	306				
ANKFN1	162282	broad.mit.edu	37	17	54520268	54520268	+	Missense_Mutation	SNP	C	C	T	rs145617071	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54520268C>T	ENST00000318698.2	+	9	1117	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ANKFN1_ENST00000566473.2_Missense_Mutation_p.T361M	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	361	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.T361M(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTCAGACCACGACACCGGCA	0.483													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19329	0.0		0.001	False		,,,				2504	0.0					ENST00000566473.2																			1	Substitution - Missense(1)	p.T361M(1)	endometrium(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1081-1083)aCg>aTg		ankyrin-repeat and fibronectin type III domain containing 1		C	MET/THR	0,4406		0,0,2203	122.0	110.0	114.0		1082	5.7	1.0	17	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANKFN1	NM_153228.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	361/764	54520268	1,13005	2203	4300	6503	SO:0001583	missense	162282							g.chr17:54520268C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1082C>T	17.37:g.54520268C>T	ENSP00000321627:p.Thr361Met					ANKFN1_ENST00000318698.2_Missense_Mutation_p.T361M	p.T361M			Q8N957	ANKF1_HUMAN			9	1082	+			361			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.1082C>T	CCDS32686.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	22.2	4.262435	0.80358	0.0	1.16E-4	ENSG00000153930	ENST00000318698	T	0.33865	1.39	5.72	5.72	0.89469	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.200345	0.53938	D	0.000052	T	0.36853	0.0982	L	0.43923	1.385	0.47094	D	0.999319	D	0.58268	0.982	B	0.42062	0.374	T	0.27773	-1.0064	10	0.66056	D	0.02	-10.2902	19.8804	0.96895	0.0:1.0:0.0:0.0	.	361	Q8N957	ANKF1_HUMAN	M	361	ENSP00000321627:T361M	ENSP00000321627:T361M	T	+	2	0	ANKFN1	51875267	0.993000	0.37304	0.966000	0.40874	0.964000	0.63967	6.516000	0.73755	2.684000	0.91462	0.563000	0.77884	ACG		0.483	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		17	281	0	0	0	1	0	17	281				
LRP1B	53353	broad.mit.edu	37	2	141806690	141806690	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141806690T>C	ENST00000389484.3	-	11	2625	c.1654A>G	c.(1654-1656)Ata>Gta	p.I552V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	552					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATTTTCTATGGGGATCATG	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1654-1656)Ata>Gta		low density lipoprotein receptor-related protein 1B							187.0	182.0	184.0					2																	141806690		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806690T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1654A>G	2.37:g.141806690T>C	ENSP00000374135:p.Ile552Val	TSP Lung(27;0.18)					p.I552V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	11	2625	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	552					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1654A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477058	0.26511	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.93158	0.7821	L	0.55481	1.735	0.50632	D	0.999882	D	0.59357	0.985	D	0.67548	0.952	D	0.91523	0.5236	10	0.24483	T	0.36	.	15.592	0.76537	0.0:0.0:0.0:1.0	.	552	Q9NZR2	LRP1B_HUMAN	V	552;490	ENSP00000374135:I552V	ENSP00000374135:I552V	I	-	1	0	LRP1B	141523160	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.929000	0.87595	2.074000	0.62210	0.460000	0.39030	ATA		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		73	823	0	0	0	1	0	73	823				
COPRS	55352	broad.mit.edu	37	17	30180005	30180005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30180005C>T	ENST00000302362.6	-	3	348	c.211G>A	c.(211-213)Gag>Aag	p.E71K	COPRS_ENST00000378634.2_Missense_Mutation_p.E59K	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	71					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										TGGGTGCCCTCACCCCGGGCA	0.517																																						ENST00000378634.2																			0											c.(175-177)Gag>Aag		coordinator of PRMT5, differentiation stimulator							177.0	181.0	180.0					17																	30180005		2203	4300	6503	SO:0001583	missense	55352							g.chr17:30180005C>T	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"""cooperator of PRMT5"""		"""chromosome 17 open reading frame 79"""	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.211G>A	17.37:g.30180005C>T	ENSP00000304327:p.Glu71Lys					COPRS_ENST00000302362.6_Missense_Mutation_p.E71K	p.E59K							3	428	-								A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	c.175G>A	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701964	0.68501	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.49139	0.79;0.79	5.79	3.25	0.37280	.	0.335010	0.23813	N	0.044309	T	0.33235	0.0856	L	0.34521	1.04	0.09310	N	1	B	0.28998	0.23	B	0.27170	0.077	T	0.27434	-1.0074	10	0.72032	D	0.01	-12.8105	6.3167	0.21194	0.0:0.7003:0.1642:0.1354	.	71	Q9NQ92	COPR5_HUMAN	K	71;59	ENSP00000304327:E71K;ENSP00000367901:E59K	ENSP00000304327:E71K	E	-	1	0	C17orf79	27204118	0.114000	0.22134	0.033000	0.17914	0.012000	0.07955	1.176000	0.31957	0.483000	0.27608	0.563000	0.77884	GAG		0.517	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		197	964	0	0	0	1	0	197	964				
KLB	152831	broad.mit.edu	37	4	39436299	39436299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39436299C>T	ENST00000257408.4	+	2	1392	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	432	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCACGGCCATCTACATG	0.398																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(1294-1296)gCc>gTc		klotho beta							60.0	59.0	60.0					4																	39436299		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436299C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1295C>T	4.37:g.39436299C>T	ENSP00000257408:p.Ala432Val						p.A432V	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			2	1392	+			432			Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1295C>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585018	0.46110	.	.	ENSG00000134962	ENST00000257408	T	0.29397	1.57	6.06	5.22	0.72569	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159988	0.56097	D	0.000034	T	0.26991	0.0661	L	0.57536	1.79	0.36098	D	0.843949	P;P	0.39809	0.689;0.689	B;B	0.34093	0.175;0.175	T	0.37820	-0.9689	10	0.44086	T	0.13	-16.2588	9.5577	0.39348	0.0:0.792:0.0:0.208	.	432;432	B7ZL50;Q86Z14	.;KLOTB_HUMAN	V	432	ENSP00000257408:A432V	ENSP00000257408:A432V	A	+	2	0	KLB	39112694	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.254000	0.51477	1.575000	0.49775	-0.136000	0.14681	GCC		0.398	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		9	392	0	0	0	1	0	9	392				
ATG7	10533	broad.mit.edu	37	3	11340278	11340278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340278G>A	ENST00000354449.3	+	2	134	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.E37K|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	37					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAGCTGAACGAGTATCGGCT	0.453																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(109-111)Gag>Aag		autophagy related 7							196.0	183.0	188.0					3																	11340278		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11340278G>A	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.109G>A	3.37:g.11340278G>A	ENSP00000346437:p.Glu37Lys					ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.E37K|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K	p.E37K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			2	134	+			37					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.109G>A	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161692	0.78226	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	6.17	6.17	0.99709	.	0.055781	0.64402	D	0.000001	T	0.29491	0.0735	L	0.33485	1.01	0.80722	D	1	P;B;B	0.46952	0.887;0.373;0.162	B;B;B	0.34242	0.178;0.073;0.033	T	0.16247	-1.0409	10	0.07325	T	0.83	-30.8945	20.4745	0.99168	0.0:0.0:1.0:0.0	.	37;37;37	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	K	37	ENSP00000415223:E37K;ENSP00000390547:E37K;ENSP00000411880:E37K;ENSP00000389996:E37K;ENSP00000412580:E37K;ENSP00000347042:E37K;ENSP00000346437:E37K;ENSP00000408303:E37K;ENSP00000416644:E37K	ENSP00000346437:E37K	E	+	1	0	ATG7	11315278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.382000	0.79729	2.941000	0.99782	0.655000	0.94253	GAG		0.453	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		129	674	0	0	0	1	0	129	674				
KRTAP9-9	81870	broad.mit.edu	37	17	39411913	39411913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39411913C>T	ENST00000394008.1	+	1	278	c.276C>T	c.(274-276)ggC>ggT	p.G92G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	77	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCTGTGGCCAAACCAGCT	0.627																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(274-276)ggC>ggT		keratin associated protein 9-9							60.0	62.0	62.0					17																	39411913		2203	4299	6502	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411913C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.276C>T	17.37:g.39411913C>T							p.G92G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	278	+		Breast(137;0.000496)	92					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.276C>T	CCDS54127.1																																																																																				0.627	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		9	539	0	0	0	1	0	9	539				
FLVCR1	28982	broad.mit.edu	37	1	213032418	213032418	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032418C>T	ENST00000366971.4	+	1	822	c.624C>T	c.(622-624)tgC>tgT	p.C208C	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	208					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TGGGCCAGTGCTTGTGCTCGG	0.642																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(622-624)tgC>tgT		feline leukemia virus subgroup C cellular receptor 1							66.0	55.0	58.0					1																	213032418		2203	4300	6503	SO:0001819	synonymous_variant	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032418C>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.624C>T	1.37:g.213032418C>T							p.C208C	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	822	+			208					Q1HE16|Q86XY9|Q9NVR9	Silent	SNP	ENST00000366971.4	37	c.624C>T	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632584	0.29068	.	.	ENSG00000162769	ENST00000419102	.	.	.	5.5	2.5	0.30297	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48068	-0.9067	4	.	.	.	-19.1226	7.0555	0.25097	0.0:0.5941:0.2596:0.1463	.	.	.	.	V	54	.	.	A	+	2	0	FLVCR1	211099041	0.000000	0.05858	0.974000	0.42286	0.989000	0.77384	-0.401000	0.07232	0.685000	0.31468	0.655000	0.94253	GCT		0.642	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		65	239	0	0	0	1	0	65	239				
GCC2	9648	broad.mit.edu	37	2	109088536	109088536	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109088536A>G	ENST00000309863.6	+	6	3465	c.2751A>G	c.(2749-2751)gaA>gaG	p.E917E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	917					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACAAAAAGAATTACGAGATA	0.284																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2749-2751)gaA>gaG		GRIP and coiled-coil domain containing 2							40.0	44.0	43.0					2																	109088536		2157	4260	6417	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109088536A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2751A>G	2.37:g.109088536A>G							p.E917E	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	3465	+			917					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.2751A>G	CCDS33268.1																																																																																				0.284	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		71	236	0	0	0	1	0	71	236				
USP41	373856	broad.mit.edu	37	22	20718570	20718570	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20718570T>C	ENST00000454608.2	-	11	928	c.929A>G	c.(928-930)cAc>cGc	p.H310R	USP41_ENST00000486536.2_5'UTR			Q3LFD5	UBP41_HUMAN	ubiquitin specific peptidase 41	310	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CATTCCCACGTGCGCAATCAC	0.488																																						ENST00000454608.2																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(928-930)cAc>cGc		ubiquitin specific peptidase 41																																				SO:0001583	missense	373856							g.chr22:20718570T>C	AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133		"""Ubiquitin-specific peptidases"""	20070	protein-coding gene	gene with protein product			"""ubiquitin specific protease 41"""			12838346	Standard	XM_006710116		Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.929A>G	22.37:g.20718570T>C	ENSP00000414922:p.His310Arg					USP41_ENST00000486536.2_5'UTR	p.H310R							11	928	-								A8MXD0|Q70BM7	Missense_Mutation	SNP	ENST00000454608.2	37	c.929A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	10.84|10.84	1.465420|1.465420	0.26335|0.26335	.|.	.|.	ENSG00000161133|ENSG00000161133	ENST00000454608|ENST00000292729	T|.	0.34859|.	1.34|.	0.911|0.911	0.911|0.911	0.19343|0.19343	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75369|0.75369	0.3840|0.3840	H|H	0.95539|0.95539	3.685|3.685	.|.	.|.	.|.	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.77531|0.77531	-0.2553|-0.2553	9|4	0.87932|.	D|.	0|.	.|.	5.7778|5.7778	0.18289|0.18289	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	310;142|.	Q3LFD5;F5H844|.	UBP41_HUMAN;.|.	R|A	310|258	ENSP00000414922:H310R|.	ENSP00000414922:H310R|.	H|T	-|-	2|1	0|0	USP41|USP41	19048570|19048570	0.978000|0.978000	0.34361|0.34361	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	2.180000|2.180000	0.42537|0.42537	0.366000|0.366000	0.24427|0.24427	0.357000|0.357000	0.21978|0.21978	CAC|ACG		0.488	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		XM_036729		5	159	0	0	0	1	0	5	159				
RNF103	7844	broad.mit.edu	37	2	86831267	86831267	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831267C>A	ENST00000237455.4	-	4	2725	c.1757G>T	c.(1756-1758)aGc>aTc	p.S586I	RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	586					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCACATGGGCTGGTCTGACA	0.423																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(1756-1758)aGc>aTc		ring finger protein 103							191.0	182.0	185.0					2																	86831267		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831267C>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1757G>T	2.37:g.86831267C>A	ENSP00000237455:p.Ser586Ile					AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	p.S586I	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2725	-			586					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1757G>T	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	7.136	0.580949	0.13686	.	.	ENSG00000239305	ENST00000237455	T	0.45668	0.89	5.51	4.63	0.57726	.	0.566379	0.20534	N	0.090448	T	0.29028	0.0721	N	0.22421	0.69	0.35951	D	0.833929	B	0.19583	0.037	B	0.17433	0.018	T	0.25882	-1.0119	10	0.49607	T	0.09	-1.1683	9.7379	0.40399	0.0:0.8259:0.0:0.1741	.	586	O00237	RN103_HUMAN	I	586	ENSP00000237455:S586I	ENSP00000237455:S586I	S	-	2	0	RNF103	86684778	0.861000	0.29849	0.998000	0.56505	0.363000	0.29612	1.594000	0.36697	1.329000	0.45376	0.460000	0.39030	AGC		0.423	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		284	835	1	0	5.94848e-79	1	7.60071e-79	284	835				
CNPY2	10330	broad.mit.edu	37	12	56712063	56712063	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56712063C>A	ENST00000273308.4	-	0	0				PAN2_ENST00000425394.2_Missense_Mutation_p.D1178Y|PAN2_ENST00000257931.5_Missense_Mutation_p.D1177Y|PAN2_ENST00000548043.1_Missense_Mutation_p.D1178Y|PAN2_ENST00000549090.1_5'UTR|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.10_ENST00000549318.1_5'Flank|PAN2_ENST00000440411.3_Missense_Mutation_p.D1174Y	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						ACCTTCCAGTCCATCTTTCTG	0.488																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(3532-3534)Gac>Tac		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							168.0	158.0	162.0					12																	56712063		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56712063C>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712063C>A	Exception_encountered					PAN2_ENST00000548043.1_Missense_Mutation_p.D1178Y|PAN2_ENST00000440411.3_Missense_Mutation_p.D1174Y|PAN2_ENST00000257931.5_Missense_Mutation_p.D1177Y|PAN2_ENST00000549090.1_5'UTR	p.D1178Y	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			25	3908	-			1178					B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.3532G>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477596	0.84640	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.62723	1.935	0.54753	D	0.999984	D;D;D	0.64830	0.994;0.994;0.99	P;P;P	0.60789	0.879;0.879;0.76	T	0.44605	-0.9317	10	0.59425	D	0.04	-11.281	14.8958	0.70644	0.1447:0.8553:0.0:0.0	.	1177;1174;1178	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	Y	1178;1174;1177;1178	ENSP00000401721:D1178Y;ENSP00000388231:D1174Y;ENSP00000257931:D1177Y;ENSP00000449861:D1178Y	ENSP00000257931:D1177Y	D	-	1	0	PAN2	54998330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.581000	0.82535	1.421000	0.47157	0.563000	0.77884	GAC		0.488	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		103	571	1	0	9.53958e-58	1	1.19509e-57	103	571				
QSER1	79832	broad.mit.edu	37	11	32956758	32956758	+	Silent	SNP	C	C	A	rs375123573		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32956758C>A	ENST00000399302.2	+	4	3902	c.3567C>A	c.(3565-3567)ccC>ccA	p.P1189P	QSER1_ENST00000527788.1_Silent_p.P950P	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1189										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATTTTGTCCCCCACCACTTC	0.473																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3565-3567)ccC>ccA		glutamine and serine rich 1							106.0	108.0	107.0					11																	32956758		1911	4108	6019	SO:0001819	synonymous_variant	79832							g.chr11:32956758C>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3567C>A	11.37:g.32956758C>A						QSER1_ENST00000527788.1_Silent_p.P950P	p.P1189P	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3902	+	Breast(20;0.158)		1189					Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.3567C>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.495042	0.01009	.	.	ENSG00000060749	ENST00000524678	T	0.37752	1.18	5.31	2.36	0.29203	.	0.177489	0.38548	N	0.001651	T	0.32376	0.0827	.	.	.	0.49915	D	0.99983	.	.	.	.	.	.	T	0.08973	-1.0696	7	0.37606	T	0.19	.	2.5447	0.04734	0.3181:0.4219:0.1144:0.1456	.	.	.	.	H	210	ENSP00000432136:P210H	ENSP00000432136:P210H	P	+	2	0	QSER1	32913334	0.087000	0.21565	0.998000	0.56505	0.227000	0.25037	-0.313000	0.08103	0.605000	0.29947	-0.373000	0.07131	CCC		0.473	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		103	410	1	0	2.14712e-25	1	2.46361e-25	103	410				
SIPA1L2	57568	broad.mit.edu	37	1	232650199	232650199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650199C>T	ENST00000366630.1	-	2	1245	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	296					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTAACAGTTCGAAGCTTTCG	0.502																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(886-888)cGa>cAa		signal-induced proliferation-associated 1 like 2							67.0	69.0	68.0					1																	232650199		1916	4123	6039	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650199C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.887G>A	1.37:g.232650199C>T	ENSP00000355589:p.Arg296Gln					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q	p.R296Q			Q9P2F8	SI1L2_HUMAN			2	1245	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	296					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.887G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961471	0.74016	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.84442	-1.85;-1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.69358	2.11	0.51767	D	0.999933	D	0.76494	0.999	D	0.67900	0.954	D	0.91448	0.5179	10	0.66056	D	0.02	-24.867	19.6787	0.95950	0.0:1.0:0.0:0.0	.	296	Q9P2F8	SI1L2_HUMAN	Q	296	ENSP00000355589:R296Q;ENSP00000262861:R296Q	ENSP00000262861:R296Q	R	-	2	0	SIPA1L2	230716822	0.975000	0.34042	0.930000	0.37139	0.978000	0.69477	5.694000	0.68272	2.890000	0.99128	0.650000	0.86243	CGA		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		94	306	0	0	0	1	0	94	306				
PSG3	5671	broad.mit.edu	37	19	43233933	43233933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43233933G>A	ENST00000327495.5	-	4	1169	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	329					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTCACAGAGGACATTCAGG	0.488																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(985-987)Ctc>Ttc		pregnancy specific beta-1-glycoprotein 3							116.0	104.0	109.0					19																	43233933		1511	2707	4218	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233933G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.985C>T	19.37:g.43233933G>A	ENSP00000332215:p.Leu329Phe					PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	p.L329F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			4	1169	-		Prostate(69;0.00682)	329					Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.985C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	10.26	1.300189	0.23650	.	.	ENSG00000221826	ENST00000327495	T	0.10960	2.82	1.36	-0.148	0.13424	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25644	0.0624	M	0.77103	2.36	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.12656	-1.0539	9	0.31617	T	0.26	.	4.6649	0.12660	0.0:0.4105:0.5895:0.0	.	307;329	Q08266;Q16557	.;PSG3_HUMAN	F	329	ENSP00000332215:L329F	ENSP00000332215:L329F	L	-	1	0	PSG3	47925773	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.655000	0.01982	0.696000	0.31696	0.400000	0.26472	CTC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		81	436	0	0	0	1	0	81	436				
CDKAL1	54901	broad.mit.edu	37	6	20781393	20781393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20781393C>T	ENST00000378610.1	+	6	545	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	CDKAL1_ENST00000378624.4_Silent_p.L109L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000274695.4_Silent_p.L179L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	179					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGTGAGACTGCTGGGTCAGAA	0.398																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(535-537)Ctg>Ttg		CDK5 regulatory subunit associated protein 1-like 1							156.0	152.0	153.0					6																	20781393		2203	4300	6503	SO:0001819	synonymous_variant	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20781393C>T	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.535C>T	6.37:g.20781393C>T						CDKAL1_ENST00000378610.1_Silent_p.L179L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Silent_p.L109L	p.L179L	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		8	702	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		179					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	c.535C>T	CCDS4546.1																																																																																				0.398	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		82	390	0	0	0	1	0	82	390				
CAMP	820	broad.mit.edu	37	3	48266102	48266102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266102C>T	ENST00000576243.1	+	3	459	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	CAMP_ENST00000296435.2_Missense_Mutation_p.R110W			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	107					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGGTGAAGCGGTGTATGGG	0.562																																						ENST00000296435.2																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(328-330)Cgg>Tgg		cathelicidin antimicrobial peptide							141.0	133.0	136.0					3																	48266102		2203	4300	6503	SO:0001583	missense	820				killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region		g.chr3:48266102C>T	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"""Endogenous ligands"""	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.319C>T	3.37:g.48266102C>T	ENSP00000458149:p.Arg107Trp					CAMP_ENST00000576243.1_Missense_Mutation_p.R107W	p.R110W	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	484	+			107					Q71SN9	Missense_Mutation	SNP	ENST00000576243.1	37	c.328C>T		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252772	0.22965	.	.	ENSG00000164047	ENST00000296435	.	.	.	5.49	0.3	0.15776	.	1.302650	0.04982	N	0.465755	T	0.27384	0.0672	L	0.28115	0.83	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.25293	-1.0136	9	0.51188	T	0.08	-12.3855	1.361	0.02191	0.1512:0.4512:0.147:0.2506	.	107	P49913	CAMP_HUMAN	W	107	.	ENSP00000296435:R107W	R	+	1	2	CAMP	48241106	0.008000	0.16893	0.009000	0.14445	0.756000	0.42949	-0.105000	0.10907	0.099000	0.17552	-0.254000	0.11334	CGG		0.562	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_004345		71	420	0	0	0	1	0	71	420				
ZNF836	162962	broad.mit.edu	37	19	52658722	52658722	+	Silent	SNP	C	C	T	rs139619574	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658722C>T	ENST00000322146.8	-	5	2735	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.T738T	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGATGGTACGTCAGGCCTG	0.418													c|||	3	0.000599042	0.0015	0.0	5008	,	,		20531	0.0		0.001	False		,,,				2504	0.0					ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2212-2214)acG>acA		zinc finger protein 836		C		1,4239		0,1,2119	82.0	85.0	84.0		2214	-4.2	0.0	19	dbSNP_134	84	0,8494		0,0,4247	no	coding-synonymous	ZNF836	NM_001102657.1		0,1,6366	TT,TC,CC		0.0,0.0236,0.0079		738/937	52658722	1,12733	2120	4247	6367	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658722C>T	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2214G>A	19.37:g.52658722C>T						ZNF836_ENST00000597252.1_Silent_p.T738T|CTC-471J1.8_ENST00000594362.1_RNA	p.T738T	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2735	-			738						Silent	SNP	ENST00000322146.8	37	c.2214G>A	CCDS46162.1																																																																																				0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		26	255	0	0	0	1	0	26	255				
MTL5	9633	broad.mit.edu	37	11	68517673	68517673	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517673G>A	ENST00000255087.5	-	2	639	c.456C>T	c.(454-456)ggC>ggT	p.G152G	MTL5_ENST00000443940.2_Silent_p.G152G|MTL5_ENST00000544963.1_Silent_p.G152G|MTL5_ENST00000540869.1_5'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	152					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCATGCGGACGCCCGGGTGGG	0.667																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(454-456)ggC>ggT		metallothionein-like 5, testis-specific (tesmin)							10.0	11.0	11.0					11																	68517673		2178	4277	6455	SO:0001819	synonymous_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517673G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.456C>T	11.37:g.68517673G>A						MTL5_ENST00000544963.1_Silent_p.G152G|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000255087.5_Silent_p.G152G	p.G152G			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	542	-	Esophageal squamous(3;4.37e-12)		152					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	ENST00000255087.5	37	c.456C>T	CCDS8184.1																																																																																				0.667	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		16	66	0	0	0	1	0	16	66				
POMGNT1	55624	broad.mit.edu	37	1	46663544	46663544	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46663544C>A	ENST00000371984.3	-	2	108		c.e2-1		POMGNT1_ENST00000535522.1_5'Flank|POMGNT1_ENST00000371986.3_Splice_Site|POMGNT1_ENST00000396420.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CTTCAGGAATCTGAAGGGACC	0.592																																						ENST00000396420.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e2-1		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							35.0	35.0	35.0					1																	46663544		2203	4300	6503	SO:0001630	splice_region_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46663544C>A		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.50-1G>T	1.37:g.46663544C>A						POMGNT1_ENST00000371984.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site|POMGNT1_ENST00000371986.3_Splice_Site				Q8WZA1	PMGT1_HUMAN			2	587	-	Acute lymphoblastic leukemia(166;0.155)							D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Splice_Site	SNP	ENST00000371984.3	37		CCDS531.1																																																																																				0.592	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739	Intron	45	181	1	0	3.76604e-16	1	4.1305e-16	45	181				
ALMS1P	200420	broad.mit.edu	37	2	73901051	73901051	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73901051C>T	ENST00000450720.1	+	0	849					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												AAAGAGCGAGCGGGATGCGCT	0.542																																						ENST00000450720.1																			0																				90.0	78.0	82.0					2																	73901051		692	1591	2283			0							g.chr2:73901051C>T	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73901051C>T								NR_003683.2						0	849	+									RNA	SNP	ENST00000450720.1	37																																																																																						0.542	ALMS1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339824.1	NR_003683		12	68	0	0	0	1	0	12	68				
ZNRF3	84133	broad.mit.edu	37	22	29446300	29446300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446300G>A	ENST00000544604.2	+	8	2306	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	711					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCGTCGTGTGCCTGCTGCTG	0.697																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2131-2133)Gcc>Acc		zinc and ring finger 3							10.0	12.0	11.0					22																	29446300		1936	4099	6035	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446300G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2131G>A	22.37:g.29446300G>A	ENSP00000443824:p.Ala711Thr					ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T	p.A711T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	2306	+			711					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.2131G>A	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	9.245	1.039167	0.19669	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.01	-0.87	0.10646	.	0.391529	0.31721	N	0.007180	T	0.71108	0.3301	L	0.45581	1.43	0.26122	N	0.980535	B	0.18863	0.031	B	0.13407	0.009	T	0.56214	-0.8016	10	0.26408	T	0.33	-15.1449	6.8353	0.23933	0.2316:0.2021:0.5663:0.0	.	711	Q9ULT6	ZNRF3_HUMAN	T	711;611;418;611;611	ENSP00000443824:A711T;ENSP00000328614:A611T;ENSP00000384456:A611T;ENSP00000384553:A611T	ENSP00000328614:A611T	A	+	1	0	ZNRF3	27776300	0.995000	0.38212	0.990000	0.47175	0.411000	0.31082	1.868000	0.39509	0.515000	0.28320	-0.140000	0.14226	GCC		0.697	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		38	146	0	0	0	1	0	38	146				
PCDH20	64881	broad.mit.edu	37	13	61986600	61986600	+	Silent	SNP	G	G	A	rs561712771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986600G>A	ENST00000409186.1	-	5	3737	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	PCDH20_ENST00000409204.4_Silent_p.I544I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	544	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTTCTCTTCGATGGTTAGTT	0.413																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1630-1632)atC>atT		protocadherin 20							153.0	156.0	155.0					13																	61986600		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986600G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1632C>T	13.37:g.61986600G>A						PCDH20_ENST00000409204.4_Silent_p.I544I	p.I544I			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3737	-		Breast(118;0.195)|Prostate(109;0.229)	517			Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1632C>T	CCDS9442.2																																																																																				0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		12	859	0	0	0	1	0	12	859				
LIG4	3981	broad.mit.edu	37	13	108861894	108861894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861894T>C	ENST00000356922.4	-	2	1995	c.1723A>G	c.(1723-1725)Acc>Gcc	p.T575A	LIG4_ENST00000405925.1_Missense_Mutation_p.T575A|LIG4_ENST00000442234.1_Missense_Mutation_p.T575A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	575					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAACGCAAGGTGCAGCCAGTT	0.438								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1723-1725)Acc>Gcc	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							94.0	88.0	90.0					13																	108861894		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861894T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1723A>G	13.37:g.108861894T>C	ENSP00000349393:p.Thr575Ala					LIG4_ENST00000442234.1_Missense_Mutation_p.T575A|LIG4_ENST00000405925.1_Missense_Mutation_p.T575A	p.T575A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1995	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		575					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1723A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.549948	0.65311	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61627	0.09;0.09;0.09	5.74	5.74	0.90152	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.42487	1.325	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.67776	-0.5583	10	0.48119	T	0.1	.	15.2152	0.73261	0.0:0.0:0.0:1.0	.	575	P49917	DNLI4_HUMAN	A	575	ENSP00000385955:T575A;ENSP00000402030:T575A;ENSP00000349393:T575A	ENSP00000349393:T575A	T	-	1	0	LIG4	107659895	1.000000	0.71417	0.836000	0.33094	0.969000	0.65631	7.975000	0.88055	2.178000	0.69098	0.450000	0.29827	ACC		0.438	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		9	320	0	0	0	1	0	9	320				
RMND5A	64795	broad.mit.edu	37	2	87000470	87000470	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:87000470G>A	ENST00000283632.4	+	9	1607		c.e9-1		RMND5A_ENST00000472843.1_Splice_Site	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)											kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTTGTCTTTAGATTAAAATGT	0.328																																						ENST00000283632.4																			0				kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						c.e9-1		required for meiotic nuclear division 5 homolog A (S. cerevisiae)							105.0	106.0	106.0					2																	87000470		2203	4300	6503	SO:0001630	splice_region_variant	64795							g.chr2:87000470G>A	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.1113-1G>A	2.37:g.87000470G>A						RMND5A_ENST00000472843.1_Splice_Site		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN			9	1607	+								D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Splice_Site	SNP	ENST00000283632.4	37		CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338521	0.41398	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.28	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1808	0.65574	0.0725:0.0:0.9275:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RMND5A	86853981	1.000000	0.71417	0.981000	0.43875	0.677000	0.39632	9.468000	0.97676	1.377000	0.46286	-0.251000	0.11542	.		0.328	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780	Intron	46	252	0	0	0	1	0	46	252				
FRMD7	90167	broad.mit.edu	37	X	131228097	131228097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131228097C>T	ENST00000298542.4	-	5	530	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCATCAACGCTGTACAGTTG	0.443																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(355-357)Gcg>Acg		FERM domain containing 7							204.0	168.0	180.0					X																	131228097		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131228097C>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.355G>A	X.37:g.131228097C>T	ENSP00000298542:p.Ala119Thr					FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T|FRMD7_ENST00000370879.1_5'UTR	p.A119T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			5	530	-	Acute lymphoblastic leukemia(192;0.000127)		119			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.355G>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077177	0.94000	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.78246	-1.16;-1.16	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89541	0.3792	10	0.66056	D	0.02	.	16.8125	0.85724	0.0:1.0:0.0:0.0	.	104;119	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	119;104	ENSP00000298542:A119T;ENSP00000417996:A104T	ENSP00000298542:A119T	A	-	1	0	FRMD7	131055778	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	5.685000	0.68204	2.262000	0.75019	0.529000	0.55759	GCG		0.443	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		117	505	0	0	0	1	0	117	505				
SPAG16	79582	broad.mit.edu	37	2	214354799	214354799	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:214354799A>C	ENST00000331683.5	+	10	1150	c.1055A>C	c.(1054-1056)gAa>gCa	p.E352A	SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	352					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGACTCCATGAACTTCCAGTG	0.323																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1054-1056)gAa>gCa		sperm associated antigen 16							55.0	60.0	58.0					2																	214354799		2202	4297	6499	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214354799A>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1055A>C	2.37:g.214354799A>C	ENSP00000332592:p.Glu352Ala					SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	p.E352A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	10	1150	+		Renal(323;0.00461)	352					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1055A>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408981	0.25378	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.62941	-0.01;-0.01;-0.01	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.207947	0.37095	N	0.002242	T	0.66177	0.2763	M	0.72479	2.2	0.30218	N	0.797086	P;P;B;P	0.51449	0.945;0.631;0.137;0.856	P;B;B;P	0.48454	0.578;0.229;0.115;0.492	T	0.67122	-0.5750	10	0.22706	T	0.39	.	12.7704	0.57417	1.0:0.0:0.0:0.0	.	258;203;292;352	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	A	352;258;38	ENSP00000332592:E352A;ENSP00000363428:E258A;ENSP00000416600:E38A	ENSP00000332592:E352A	E	+	2	0	SPAG16	214063044	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.663000	0.61532	2.269000	0.75478	0.454000	0.30748	GAA		0.323	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		40	192	0	0	0	1	0	40	192				
MIR381HG	378881	broad.mit.edu	37	14	101518850	101518850	+	lincRNA	SNP	G	G	A	rs371328387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101518850G>A	ENST00000553692.1	+	0	850				AL132709.3_ENST00000577219.1_RNA|MIR485_ENST00000385292.2_RNA|MIR487A_ENST00000384827.1_RNA|MIR134_ENST00000385258.2_RNA|MIR382_ENST00000385009.2_RNA|MIR655_ENST00000362159.2_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		GGGACATCCAGTTTTTCAGTA	0.512																																						ENST00000384827.1																			0															G		0,3136		0,0,1568	139.0	128.0	131.0			2.8	1.0	14		131	1,7163		0,1,3581	no	intergenic				0,1,5149	AA,AG,GG		0.014,0.0,0.0097			101518850	1,10299	1568	3582	5150			0							g.chr14:101518850G>A	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101518850G>A								NR_030162.1						0	68	+									RNA	SNP	ENST00000553692.1	37																																																																																						0.512	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			25	129	0	0	0	1	0	25	129				
UBA1	7317	broad.mit.edu	37	X	47058959	47058959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47058959G>A	ENST00000335972.6	+	5	609	c.426G>A	c.(424-426)gtG>gtA	p.V142V	UBA1_ENST00000377351.4_Silent_p.V142V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	142	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACAGCTATGTGCCTGTCACTG	0.567																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(424-426)gtG>gtA		ubiquitin-like modifier activating enzyme 1							127.0	117.0	120.0					X																	47058959		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47058959G>A	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.426G>A	X.37:g.47058959G>A						UBA1_ENST00000377351.4_Silent_p.V142V	p.V142V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			5	609	+			142			2 approximate repeats.		Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.426G>A	CCDS14275.1																																																																																				0.567	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		151	544	0	0	0	1	0	151	544				
ADAMTS3	9508	broad.mit.edu	37	4	73188804	73188804	+	Missense_Mutation	SNP	A	A	C	rs61757480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73188804A>C	ENST00000286657.4	-	6	908	c.872T>G	c.(871-873)aTt>aGt	p.I291S	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	291	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCATGGTAAATTTCATTCAC	0.358																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(871-873)aTt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							142.0	143.0	143.0					4																	73188804		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73188804A>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.872T>G	4.37:g.73188804A>C	ENSP00000286657:p.Ile291Ser					RP11-373J21.1_ENST00000503918.1_RNA	p.I291S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	908	-			291			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.872T>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629833	0.87660	.	.	ENSG00000156140	ENST00000286657	T	0.66995	-0.24	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87671	0.2541	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	291	O15072	ATS3_HUMAN	S	291	ENSP00000286657:I291S	ENSP00000286657:I291S	I	-	2	0	ADAMTS3	73407668	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.699000	0.91316	2.324000	0.78689	0.533000	0.62120	ATT		0.358	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			133	559	0	0	0	1	0	133	559				
MFSD8	256471	broad.mit.edu	37	4	128841803	128841803	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128841803A>C	ENST00000296468.3	-	13	1666	c.1539T>G	c.(1537-1539)taT>taG	p.Y513*	MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	513					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAATCCTCCCATATCTTACAG	0.473																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(1537-1539)taT>taG		major facilitator superfamily domain containing 8							100.0	98.0	98.0					4																	128841803		2203	4300	6503	SO:0001587	stop_gained	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128841803A>C	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1539T>G	4.37:g.128841803A>C	ENSP00000296468:p.Tyr513*					MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*	p.Y513*	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			13	1666	-			513					B2RDM1|B7Z205|Q8N2P3	Nonsense_Mutation	SNP	ENST00000296468.3	37	c.1539T>G	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	A	35	5.477345	0.96291	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	.	.	.	4.33	3.11	0.35812	.	0.376195	0.29565	N	0.011790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2271	9.9504	0.41636	0.9176:0.0:0.0824:0.0	.	.	.	.	X	513;468	.	ENSP00000296468:Y513X	Y	-	3	2	MFSD8	129061253	1.000000	0.71417	0.915000	0.36163	0.620000	0.37586	1.365000	0.34182	1.830000	0.53286	0.459000	0.35465	TAT		0.473	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		73	337	0	0	0	1	0	73	337				
COL4A6	1288	broad.mit.edu	37	X	107434631	107434631	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107434631C>A	ENST00000372216.4	-	19	1416	c.1316G>T	c.(1315-1317)gGc>gTc	p.G439V	COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G438V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G439V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	439	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTAGGTGGGCCTGGTGGACC	0.542									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1315-1317)gGc>gTc		collagen, type IV, alpha 6							159.0	141.0	147.0					X																	107434631		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107434631C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1316G>T	X.37:g.107434631C>A	ENSP00000361290:p.Gly439Val					COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G438V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G439V	p.G439V			Q14031	CO4A6_HUMAN			19	1547	-			439			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1316G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065035	0.36470	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53;-5.53	5.35	5.35	0.76521	.	0.000000	0.43260	D	0.000600	D	0.99432	0.9799	M	0.91768	3.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.98693	1.0697	10	0.72032	D	0.01	.	17.3384	0.87288	0.0:1.0:0.0:0.0	.	438;438;439;438	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	439;438;439;438;438;438	ENSP00000361290:G439V;ENSP00000334733:G438V;ENSP00000378340:G439V;ENSP00000443707:G438V;ENSP00000445236:G438V	ENSP00000334733:G438V	G	-	2	0	COL4A6	107321287	1.000000	0.71417	0.557000	0.28306	0.877000	0.50540	5.212000	0.65225	2.562000	0.86427	0.600000	0.82982	GGC		0.542	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			148	638	1	0	3.31903e-57	1	4.15634e-57	148	638				
YEATS2	55689	broad.mit.edu	37	3	183503951	183503951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183503951C>T	ENST00000305135.5	+	20	2970	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	925					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAAAATATCCGATAGCACCT	0.488																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2773-2775)tcC>tcT		YEATS domain containing 2							70.0	68.0	69.0					3																	183503951		2007	4195	6202	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183503951C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2775C>T	3.37:g.183503951C>T							p.S925S	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		20	2970	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		925					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.2775C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221416	0.22457	.	.	ENSG00000163872	ENST00000432781	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4236	4.9978	0.14249	0.3097:0.4504:0.1031:0.1368	.	.	.	.	X	111	.	.	R	+	1	2	YEATS2	184986645	0.000000	0.05858	0.715000	0.30552	0.996000	0.88848	-3.082000	0.00613	-1.690000	0.01432	-0.290000	0.09829	CGA		0.488	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		44	217	0	0	0	1	0	44	217				
XXYLT1	152002	broad.mit.edu	37	3	194790697	194790697	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194790697A>C	ENST00000310380.6	-	4	1037	c.929T>G	c.(928-930)cTg>cGg	p.L310R	XXYLT1_ENST00000356740.5_Missense_Mutation_p.L104R|XXYLT1_ENST00000437101.1_Missense_Mutation_p.L107R|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000429994.1_Missense_Mutation_p.L164R|XXYLT1_ENST00000355729.4_Missense_Mutation_p.L107R	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	310						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CGCCGGCTCCAGCAGGCGGCT	0.687																																						ENST00000310380.6																			0											c.(928-930)cTg>cGg		xyloside xylosyltransferase 1							33.0	38.0	36.0					3																	194790697		1944	4144	6088	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790697A>C	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.929T>G	3.37:g.194790697A>C	ENSP00000309640:p.Leu310Arg					XXYLT1_ENST00000355729.4_Missense_Mutation_p.L107R|XXYLT1_ENST00000437101.1_Missense_Mutation_p.L107R|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.L104R|XXYLT1_ENST00000429994.1_Missense_Mutation_p.L164R	p.L310R	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	1037	-			310					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.929T>G	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.933216	0.92458	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	T	0.52175	0.1718	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.995;0.949;0.999	T	0.50127	-0.8864	10	0.22706	T	0.39	-0.5896	15.4921	0.75615	1.0:0.0:0.0:0.0	.	310;107;104	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	R	310;107;107;164;104	ENSP00000309640:L310R;ENSP00000409865:L107R;ENSP00000347967:L107R;ENSP00000399422:L164R;ENSP00000349179:L104R	ENSP00000309640:L310R	L	-	2	0	C3orf21	196271986	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.273000	0.95719	2.257000	0.74773	0.460000	0.39030	CTG		0.687	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		69	313	0	0	0	1	0	69	313				
MUC16	94025	broad.mit.edu	37	19	8974076	8974076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8974076G>A	ENST00000397910.4	-	76	42798	c.42595C>T	c.(42595-42597)Cgg>Tgg	p.R14199W	MUC16_ENST00000380951.5_Missense_Mutation_p.R840W|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14244	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACTCGCCCCGGATTGATAAA	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42595-42597)Cgg>Tgg		mucin 16, cell surface associated							93.0	88.0	90.0					19																	8974076		1884	4115	5999	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8974076G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42595C>T	19.37:g.8974076G>A	ENSP00000381008:p.Arg14199Trp					MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.R840W	p.R14199W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			76	42798	-			14230	Missing (in Ref. 3; AAK74120).		SEA 14.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42595C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.771491	0.31320	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.01981	4.52	4.64	-3.0	0.05480	.	2.408930	0.02423	N	0.082720	T	0.04861	0.0131	M	0.78637	2.42	.	.	.	B;P	0.41643	0.002;0.758	B;B	0.38954	0.002;0.286	T	0.47522	-0.9111	9	0.51188	T	0.08	.	8.8916	0.35437	0.5282:0.0:0.4718:0.0	.	21844;14199	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14199;840	ENSP00000381008:R14199W	ENSP00000370338:R840W	R	-	1	2	MUC16	8835076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.189000	0.17037	-0.452000	0.07087	-0.766000	0.03442	CGG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	68	0	0	0	1	0	10	68				
LACC1	144811	broad.mit.edu	37	13	44464409	44464409	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:44464409A>G	ENST00000441843.1	+	6	1778	c.1293A>G	c.(1291-1293)tgA>tgG	p.*431W	LACC1_ENST00000325686.6_Splice_Site_p.*431W	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	0																	TTAAAGAATGAGGTACAGTAG	0.428																																						ENST00000441843.1																			0											c.e6+1		laccase (multicopper oxidoreductase) domain containing 1							114.0	112.0	112.0					13																	44464409		2203	4300	6503	SO:0001630	splice_region_variant	144811							g.chr13:44464409A>G	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1290+1A>G	13.37:g.44464409A>G						LACC1_ENST00000325686.6_Splice_Site_p.*431_splice	p.*431_splice	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			6	1778	+			0					A2A3Z6|Q8N8X5	Splice_Site	SNP	ENST00000441843.1	37	c.1290_splice	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217386	0.39201	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	W	431	.	.	X	+	3	0	LACC1	43362409	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	5.516000	0.67055	2.371000	0.80710	0.533000	0.62120	TGA		0.428	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218	Nonstop_Mutation	42	177	0	0	0	1	0	42	177				
HSD3B7	80270	broad.mit.edu	37	16	30997931	30997931	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30997931A>G	ENST00000297679.5	+	5	530	c.437A>G	c.(436-438)aAc>aGc	p.N146S	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_Missense_Mutation_p.N146S|HSD3B7_ENST00000262520.6_Missense_Mutation_p.N146S	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	146					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACCAGGGGCAACGAAGACACC	0.602																																						ENST00000262520.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(436-438)aAc>aGc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							95.0	94.0	94.0					16																	30997931		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30997931A>G	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.437A>G	16.37:g.30997931A>G	ENSP00000297679:p.Asn146Ser					HSD3B7_ENST00000353250.5_Missense_Mutation_p.N146S|HSD3B7_ENST00000297679.5_Missense_Mutation_p.N146S	p.N146S	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN			5	727	+			146					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.437A>G	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038306	0.75617	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.84873	-1.91;-1.91;-1.91	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.042077	0.85682	D	0.000000	D	0.88687	0.6504	M	0.62088	1.915	0.52501	D	0.999951	B;P	0.49862	0.368;0.929	B;P	0.56216	0.292;0.794	D	0.87868	0.2669	10	0.38643	T	0.18	-15.5205	13.8286	0.63366	1.0:0.0:0.0:0.0	.	146;146	Q96M28;Q9H2F3	.;3BHS7_HUMAN	S	146	ENSP00000262520:N146S;ENSP00000370662:N146S;ENSP00000297679:N146S	ENSP00000262520:N146S	N	+	2	0	HSD3B7	30905432	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.574000	0.67424	2.154000	0.67381	0.459000	0.35465	AAC		0.602	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			9	411	0	0	0	1	0	9	411				
GFAP	2670	broad.mit.edu	37	17	42990750	42990750	+	Missense_Mutation	SNP	C	C	T	rs56679084	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42990750C>T	ENST00000253408.5	-	4	732	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.E223K|GFAP_ENST00000435360.2_Missense_Mutation_p.E223K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	223	Linker 12.|Rod.		E -> Q (in dbSNP:rs56679084). {ECO:0000269|PubMed:12944715, ECO:0000269|PubMed:15732097}.		astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGTCAAGCTCCACATGGACC	0.612																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23	GRCh37	CM034656	GFAP	M	rs56679084	c.(667-669)Gag>Aag		glial fibrillary acidic protein							81.0	64.0	70.0					17																	42990750		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42990750C>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.667G>A	17.37:g.42990750C>T	ENSP00000253408:p.Glu223Lys					GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.E223K|GFAP_ENST00000435360.2_Missense_Mutation_p.E223K	p.E223K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			4	732	-		Prostate(33;0.0959)	223		E -> Q (in ALEXD; adult form; dbSNP:rs56679084).	Linker 12.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.667G>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036126	0.75617	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.92495	-3.05;-3.05	4.93	4.93	0.64822	Filament (1);	0.058017	0.64402	D	0.000002	D	0.94823	0.8328	M	0.73319	2.225	0.58432	D	0.999992	D;D	0.56968	0.978;0.972	P;D	0.62955	0.829;0.909	D	0.92488	0.5998	10	0.20046	T	0.44	.	18.3229	0.90244	0.0:1.0:0.0:0.0	.	223;223	E9PAX3;P14136	.;GFAP_HUMAN	K	223;198;223	ENSP00000253408:E223K;ENSP00000403962:E223K	ENSP00000253408:E223K	E	-	1	0	GFAP	40346276	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.651000	0.83577	2.746000	0.94184	0.655000	0.94253	GAG		0.612	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		76	299	0	0	0	1	0	76	299				
XIRP1	165904	broad.mit.edu	37	3	39229562	39229562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229562G>A	ENST00000340369.3	-	2	1603	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L459L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	459					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATGGGCCAGAACCTCACCC	0.562																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1375-1377)Ctg>Ttg		xin actin-binding repeat containing 1							158.0	169.0	165.0					3																	39229562		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229562G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1375C>T	3.37:g.39229562G>A						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L459L	p.L459L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1603	-			459					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1375C>T	CCDS2683.1																																																																																				0.562	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		245	1082	0	0	0	1	0	245	1082				
NDUFS6	4726	broad.mit.edu	37	5	1802444	1802444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1802444G>A	ENST00000274137.5	+	2	160	c.142G>A	c.(142-144)Gat>Aat	p.D48N	NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N|MRPL36_ENST00000508987.1_5'Flank|MRPL36_ENST00000505818.1_5'Flank|MRPL36_ENST00000382647.7_5'Flank|MRPL36_ENST00000505059.2_5'Flank	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	48					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						GGTTTATGATGATAAAGACTA	0.338																																						ENST00000274137.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(142-144)Gat>Aat		NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						99.0	102.0	101.0					5																	1802444		2203	4300	6503	SO:0001583	missense	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1802444G>A	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.142G>A	5.37:g.1802444G>A	ENSP00000274137:p.Asp48Asn					NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N	p.D48N	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN			2	160	+			48						Missense_Mutation	SNP	ENST00000274137.5	37	c.142G>A	CCDS3866.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080091	0.36662	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	T	0.77098	-1.07	4.32	1.48	0.22813	.	0.417168	0.26855	N	0.022151	T	0.71409	0.3336	M	0.67953	2.075	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.62817	-0.6774	10	0.59425	D	0.04	-2.9912	7.4969	0.27494	0.2902:0.0:0.7098:0.0	.	48	O75380	NDUS6_HUMAN	N	48	ENSP00000274137:D48N	ENSP00000274137:D48N	D	+	1	0	NDUFS6	1855444	0.992000	0.36948	0.003000	0.11579	0.961000	0.63080	4.399000	0.59703	-0.008000	0.14320	0.558000	0.71614	GAT		0.338	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		50	227	0	0	0	1	0	50	227				
EPPK1	83481	broad.mit.edu	37	8	144940652	144940652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940652C>T	ENST00000525985.1	-	2	6841	c.6770G>A	c.(6769-6771)gGc>gAc	p.G2257D				P58107	EPIPL_HUMAN	epiplakin 1	2257						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGCCGTGCCGGGCCGCAG	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6769-6771)gGc>gAc		epiplakin 1							46.0	44.0	45.0					8																	144940652		2166	4253	6419	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940652C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6770G>A	8.37:g.144940652C>T	ENSP00000436337:p.Gly2257Asp						p.G2257D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6841	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2257					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6770G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.085865	0.76642	.	.	ENSG00000227184	ENST00000525985	T	0.71222	-0.55	4.67	4.67	0.58626	.	.	.	.	.	T	0.77157	0.4089	L	0.45744	1.44	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	T	0.71115	-0.4686	9	0.12430	T	0.62	.	15.1226	0.72457	0.0:1.0:0.0:0.0	.	2257	E9PPU0	.	D	2257	ENSP00000436337:G2257D	ENSP00000436337:G2257D	G	-	2	0	EPPK1	145012640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.909000	0.56363	2.420000	0.82092	0.591000	0.81541	GGC		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	498	0	0	0	1	0	11	498				
CCDC173	129881	broad.mit.edu	37	2	170502626	170502626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170502626C>T	ENST00000447353.1	-	9	1489	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	462																	GCCACAAGAGCTTCAGTAAGT	0.323																																						ENST00000447353.1																			0											c.(1384-1386)Gct>Act		coiled-coil domain containing 173							220.0	221.0	221.0					2																	170502626		1846	4087	5933	SO:0001583	missense	129881							g.chr2:170502626C>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1384G>A	2.37:g.170502626C>T	ENSP00000391504:p.Ala462Thr						p.A462T	NM_001085447.1	NP_001078916.1					9	1489	-								Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.1384G>A	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	6.754	0.508052	0.12883	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.72	3.94	0.45596	.	0.700289	0.10108	U	0.715103	T	0.43853	0.1266	M	0.67953	2.075	0.09310	N	1	B	0.15930	0.015	B	0.23419	0.046	T	0.42481	-0.9449	9	0.15066	T	0.55	.	6.3099	0.21159	0.2459:0.6238:0.0:0.1303	.	462	Q0VFZ6	CB077_HUMAN	T	462	.	ENSP00000391504:A462T	A	-	1	0	C2orf77	170210872	0.009000	0.17119	0.345000	0.25642	0.932000	0.56968	-0.155000	0.10115	0.895000	0.36342	0.655000	0.94253	GCT		0.323	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		284	918	0	0	0	1	0	284	918				
PARP8	79668	broad.mit.edu	37	5	50091153	50091153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50091153C>T	ENST00000281631.5	+	12	1488	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000514342.2_Missense_Mutation_p.L197F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	444						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAAACTGAGCTTTTCAAGGA	0.438																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1330-1332)Ctt>Ttt		poly (ADP-ribose) polymerase family, member 8							83.0	86.0	85.0					5																	50091153		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091153C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1330C>T	5.37:g.50091153C>T	ENSP00000281631:p.Leu444Phe					PARP8_ENST00000514342.2_Missense_Mutation_p.L197F|PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000511363.2_3'UTR	p.L444F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1488	+		Lung NSC(810;0.0305)|Breast(144;0.222)	444					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1330C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672488	0.47781	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.45	4.56	0.56223	.	0.323692	0.29205	N	0.012822	T	0.19485	0.0468	N	0.08118	0	0.30756	N	0.74455	B;P;B	0.43701	0.177;0.815;0.437	B;B;B	0.37047	0.068;0.24;0.068	T	0.04203	-1.0969	8	.	.	.	-5.7094	15.8371	0.78808	0.1369:0.8631:0.0:0.0	.	336;444;444	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	444;444;197;444;444;423;197;197	.	.	L	+	1	0	PARP8	50126910	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.495000	0.22483	1.379000	0.46325	0.650000	0.86243	CTT		0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		72	382	0	0	0	1	0	72	382				
KRI1	65095	broad.mit.edu	37	19	10672384	10672384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10672384C>T	ENST00000312962.6	-	6	484	c.465G>A	c.(463-465)tcG>tcA	p.S155S	KRI1_ENST00000361821.5_Silent_p.S151S|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	149	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AACTTTGCGACGATGTCTCCT	0.607																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(463-465)tcG>tcA		KRI1 homolog (S. cerevisiae)							146.0	142.0	143.0					19																	10672384		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10672384C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.465G>A	19.37:g.10672384C>T						KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.S151S	p.S155S	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		6	484	-			155			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.465G>A	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	2.214	-0.379965	0.05000	.	.	ENSG00000129347	ENST00000543682	.	.	.	3.7	-2.84	0.05751	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-2.2623	5.8817	0.18858	0.0:0.4384:0.2387:0.3229	.	.	.	.	H	93	.	.	R	-	2	0	KRI1	10533384	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.565000	0.00918	-0.676000	0.05238	-2.893000	0.00094	CGT		0.607	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		180	728	0	0	0	1	0	180	728				
HSD17B4	3295	broad.mit.edu	37	5	118872225	118872225	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118872225G>A	ENST00000256216.6	+	23	2234	c.2101G>A	c.(2101-2103)Ggc>Agc	p.G701S	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.G726S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G564S|HSD17B4_ENST00000510025.1_Missense_Mutation_p.G677S|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G561S|HSD17B4_ENST00000509514.1_Missense_Mutation_p.G439S|HSD17B4_ENST00000515320.1_Missense_Mutation_p.G683S	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	701	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGTGGTCCTGGGCAAGCTTGA	0.403																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(2176-2178)Ggc>Agc		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						123.0	113.0	116.0					5																	118872225		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118872225G>A		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.2101G>A	5.37:g.118872225G>A	ENSP00000256216:p.Gly701Ser					HSD17B4_ENST00000510025.1_Missense_Mutation_p.G677S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G564S|HSD17B4_ENST00000256216.6_Missense_Mutation_p.G701S|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G561S|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.G439S|HSD17B4_ENST00000515320.1_Missense_Mutation_p.G683S	p.G726S	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	24	2360	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	701			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.2176G>A	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243030	0.95272	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.85	5.85	0.93711	SCP2 sterol-binding domain (2);	0.147360	0.64402	D	0.000010	D	0.85071	0.5613	M	0.93197	3.39	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.988	D;D;D;D;P	0.79108	0.975;0.976;0.983;0.992;0.904	D	0.88067	0.2798	9	.	.	.	-13.2708	18.9291	0.92558	0.0:0.0:1.0:0.0	.	726;683;677;439;701	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	S	701;683;677;726;561;564;439	ENSP00000256216:G701S;ENSP00000424613:G683S;ENSP00000424940:G677S;ENSP00000420914:G726S;ENSP00000411960:G561S;ENSP00000425993:G564S;ENSP00000426272:G439S	.	G	+	1	0	HSD17B4	118900124	1.000000	0.71417	0.969000	0.41365	0.958000	0.62258	6.824000	0.75288	2.773000	0.95371	0.650000	0.86243	GGC		0.403	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		7	369	0	0	0	1	0	7	369				
SRRT	51593	broad.mit.edu	37	7	100482892	100482892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482892C>T	ENST00000347433.4	+	10	1376	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	SRRT_ENST00000432932.1_Silent_p.D405D|SRRT_ENST00000457580.2_Silent_p.D406D|SRRT_ENST00000388793.4_Silent_p.D405D			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	406					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAAGGACGCCGCGGGGC	0.592																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1213-1215)gaC>gaT		serrate RNA effector molecule homolog (Arabidopsis)							53.0	60.0	58.0					7																	100482892		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482892C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1218C>T	7.37:g.100482892C>T						SRRT_ENST00000347433.4_Silent_p.D406D|SRRT_ENST00000432932.1_Silent_p.D405D|SRRT_ENST00000457580.2_Silent_p.D406D	p.D405D	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			10	1435	+			406					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.1215C>T	CCDS34709.1																																																																																				0.592	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		13	684	0	0	0	1	0	13	684				
NUP85	79902	broad.mit.edu	37	17	73231271	73231271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73231271G>T	ENST00000245544.4	+	18	1915	c.1844G>T	c.(1843-1845)gGa>gTa	p.G615V	NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.G218V	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	615					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCTGTGCATGGAGAATCTGAT	0.507																																						ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(1843-1845)gGa>gTa		nucleoporin 85kDa							181.0	151.0	161.0					17																	73231271		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73231271G>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1844G>T	17.37:g.73231271G>T	ENSP00000245544:p.Gly615Val					NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.G218V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V	p.G615V	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		18	1915	+	all_lung(278;0.14)|Lung NSC(278;0.168)		615					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.1844G>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280888	0.23392	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.12	-2.26	0.06867	.	1.114660	0.06493	N	0.734919	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.14023	0.01;0.01	T	0.22417	-1.0217	9	0.34782	T	0.22	-0.0383	9.9975	0.41909	0.1515:0.594:0.2545:0.0	.	569;615	B4DMQ3;Q9BW27	.;NUP85_HUMAN	V	615;569;218	.	ENSP00000245544:G615V	G	+	2	0	NUP85	70742866	0.011000	0.17503	0.000000	0.03702	0.010000	0.07245	0.106000	0.15354	-0.503000	0.06586	0.462000	0.41574	GGA		0.507	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		45	236	1	0	1.23103e-26	1	1.41986e-26	45	236				
PRDX1	5052	broad.mit.edu	37	1	45977046	45977046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45977046C>A	ENST00000262746.1	-	6	894	c.555G>T	c.(553-555)aaG>aaT	p.K185N	PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N|PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	185					cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GGACATCAGGCTTGATGGTAT	0.498																																						ENST00000262746.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12						c.(553-555)aaG>aaT		peroxiredoxin 1							199.0	205.0	203.0					1																	45977046		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45977046C>A	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.555G>T	1.37:g.45977046C>A	ENSP00000262746:p.Lys185Asn					PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N|PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N	p.K185N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN			6	894	-	Acute lymphoblastic leukemia(166;0.155)		185					B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.555G>T	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006155	0.74932	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.34072	1.38;1.38;1.38	5.04	3.15	0.36227	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.120922	0.56097	D	0.000025	T	0.43166	0.1235	M	0.84433	2.695	0.58432	D	0.999997	B	0.20780	0.048	B	0.22601	0.04	T	0.49844	-0.8896	10	0.62326	D	0.03	-6.1472	11.6022	0.51010	0.0:0.8526:0.0:0.1474	.	185	Q06830	PRDX1_HUMAN	N	185;185;83	ENSP00000262746:K185N;ENSP00000361152:K185N;ENSP00000361150:K83N	ENSP00000262746:K185N	K	-	3	2	PRDX1	45749633	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.067000	0.30616	1.131000	0.42111	-0.379000	0.06801	AAG		0.498	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		210	983	1	0	1.51328e-59	1	1.9009e-59	210	983				
MXD1	4084	broad.mit.edu	37	2	70165302	70165302	+	Silent	SNP	C	C	T	rs148753961	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70165302C>T	ENST00000264444.2	+	6	812	c.552C>T	c.(550-552)agC>agT	p.S184S	MXD1_ENST00000540449.1_Silent_p.S174S|MXD1_ENST00000465446.1_3'UTR	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	184					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GCAGTGTGAGCGACTCTGACG	0.557																																						ENST00000264444.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(550-552)agC>agT		MAX dimerization protein 1		C	,,	0,4406		0,0,2203	118.0	112.0	114.0		549,522,552	-5.1	0.9	2	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	MXD1	NM_001202513.1,NM_001202514.1,NM_002357.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	183/221,174/212,184/222	70165302	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70165302C>T		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.552C>T	2.37:g.70165302C>T						MXD1_ENST00000540449.1_Silent_p.S174S|MXD1_ENST00000465446.1_3'UTR	p.S184S	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN			6	812	+			184					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Silent	SNP	ENST00000264444.2	37	c.552C>T	CCDS1896.1																																																																																				0.557	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		111	300	0	0	0	1	0	111	300				
EFHC1	114327	broad.mit.edu	37	6	52343868	52343868	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52343868T>A	ENST00000371068.5	+	8	1415	c.1312T>A	c.(1312-1314)Ttt>Att	p.F438I	EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I|EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	438	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGACCGCAGATTTGTCTTCTC	0.438																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(1312-1314)Ttt>Att		EF-hand domain (C-terminal) containing 1							107.0	103.0	105.0					6																	52343868		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52343868T>A	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1312T>A	6.37:g.52343868T>A	ENSP00000360107:p.Phe438Ile					EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I|EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I	p.F438I	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			8	1415	+	Lung NSC(77;0.109)		438			DM10 3.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.1312T>A	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514557	0.85389	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	D;D;D	0.85629	-1.79;-1.98;-2.01	5.89	5.89	0.94794	Uncharacterised domain DM10 (2);	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	M	0.91406	3.205	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.989	D	0.94628	0.7819	10	0.87932	D	0	-4.1261	16.3071	0.82852	0.0:0.0:0.0:1.0	.	419;347;438	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	I	438;347;419	ENSP00000360107:F438I;ENSP00000416492:F347I;ENSP00000444521:F419I	ENSP00000360107:F438I	F	+	1	0	EFHC1	52451827	1.000000	0.71417	0.905000	0.35620	0.391000	0.30476	7.794000	0.85869	2.250000	0.74265	0.477000	0.44152	TTT		0.438	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		19	475	0	0	0	1	0	19	475				
TCF3	6929	broad.mit.edu	37	19	1625590	1625590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1625590C>T	ENST00000262965.5	-	7	828	c.484G>A	c.(484-486)Gca>Aca	p.A162T	TCF3_ENST00000453954.2_Missense_Mutation_p.A78T|TCF3_ENST00000395423.3_Missense_Mutation_p.A111T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCGTCTGCCGCTCTCCGC	0.697			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(484-486)Gca>Aca		transcription factor 3							10.0	12.0	11.0					19																	1625590		2175	4270	6445	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1625590C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.484G>A	19.37:g.1625590C>T	ENSP00000262965:p.Ala162Thr					TCF3_ENST00000395423.3_Missense_Mutation_p.A111T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000453954.2_Missense_Mutation_p.A78T	p.A162T	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	828	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	162					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.484G>A	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103203	0.08731	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.55234	0.53;0.53;0.53	4.52	3.48	0.39840	.	0.287580	0.34628	N	0.003805	T	0.41259	0.1151	L	0.46157	1.445	0.32262	N	0.570039	B;B;P	0.37688	0.269;0.012;0.605	B;B;B	0.34093	0.088;0.012;0.175	T	0.52275	-0.8597	10	0.39692	T	0.17	-13.5314	9.4074	0.38471	0.0:0.898:0.0:0.102	.	162;162;111	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	T	162;162;162;111	ENSP00000262965:A162T;ENSP00000344375:A162T;ENSP00000378813:A111T	ENSP00000262965:A162T	A	-	1	0	TCF3	1576590	0.883000	0.30277	0.250000	0.24296	0.053000	0.15095	1.336000	0.33850	0.886000	0.36113	0.561000	0.74099	GCA		0.697	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		19	65	0	0	0	1	0	19	65				
METTL6	131965	broad.mit.edu	37	3	15466479	15466479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15466479C>A	ENST00000443029.1	-	3	583	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000450816.2_Intron|EAF1_ENST00000432764.2_5'Flank|METTL6_ENST00000383790.3_Missense_Mutation_p.A115S|METTL6_ENST00000383789.5_Missense_Mutation_p.A115S			Q8TCB7	METL6_HUMAN	methyltransferase like 6	115							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TATTCAATGGCTCTTGGAGAA	0.398																																						ENST00000443029.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						c.(343-345)Gcc>Tcc		methyltransferase like 6							111.0	102.0	105.0					3																	15466479		1878	4104	5982	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15466479C>A	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.343G>T	3.37:g.15466479C>A	ENSP00000407613:p.Ala115Ser					METTL6_ENST00000383789.5_Missense_Mutation_p.A115S|METTL6_ENST00000450816.2_Intron|METTL6_ENST00000383790.3_Missense_Mutation_p.A115S	p.A115S			Q8TCB7	METL6_HUMAN			3	583	-			115					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.343G>T	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004692	0.74932	.	.	ENSG00000206562	ENST00000383790;ENST00000453819;ENST00000383789	T;T;T	0.04758	3.56;3.56;3.56	5.74	5.74	0.90152	Methyltransferase type 12 (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05241	-1.0897	10	0.87932	D	0	-14.8173	19.5124	0.95148	0.0:1.0:0.0:0.0	.	115;115	Q8TCB7-2;Q8TCB7	.;METL6_HUMAN	S	115;22;115	ENSP00000373300:A115S;ENSP00000412006:A22S;ENSP00000373299:A115S	ENSP00000373299:A115S	A	-	1	0	METTL6	15441483	1.000000	0.71417	0.999000	0.59377	0.260000	0.26232	7.723000	0.84788	2.707000	0.92482	0.563000	0.77884	GCC		0.398	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		95	391	1	0	1.76403e-45	1	2.16332e-45	95	391				
PTPRU	10076	broad.mit.edu	37	1	29609239	29609239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29609239G>T	ENST00000345512.3	+	12	2049	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000373779.3_Missense_Mutation_p.E640D|PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D|PTPRU_ENST00000356870.3_Missense_Mutation_p.E640D	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	640	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCGGCGGGAGCCAGGTGGAC	0.677																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1918-1920)gaG>gaT		protein tyrosine phosphatase, receptor type, U							58.0	51.0	53.0					1																	29609239		2203	4298	6501	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609239G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1920G>T	1.37:g.29609239G>T	ENSP00000334941:p.Glu640Asp					PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000356870.3_Missense_Mutation_p.E640D|PTPRU_ENST00000345512.3_Missense_Mutation_p.E640D|PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D	p.E640D	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	2049	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	640			Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1920G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257525	0.59321	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.33216	1.46;1.48;1.48;1.48;1.42;1.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.64404	1.975	0.50467	D	0.999876	B;B;B;B;B	0.28933	0.228;0.228;0.228;0.146;0.146	B;B;B;B;B	0.27262	0.078;0.078;0.078;0.036;0.036	T	0.07443	-1.0772	9	.	.	.	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	640;640;640;640;640	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	D	640	ENSP00000334941:E640D;ENSP00000362884:E640D;ENSP00000349333:E640D;ENSP00000314987:E640D;ENSP00000392332:E640D;ENSP00000432906:E640D	.	E	+	3	2	PTPRU	29481826	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.259000	0.51515	2.598000	0.87819	0.549000	0.68633	GAG		0.677	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			38	280	1	0	4.07013e-28	1	4.72867e-28	38	280				
ITGA10	8515	broad.mit.edu	37	1	145536894	145536894	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145536894C>T	ENST00000369304.3	+	18	2449	c.2274C>T	c.(2272-2274)acC>acT	p.T758T	ITGA10_ENST00000539363.1_Silent_p.T615T|ITGA10_ENST00000538811.1_Silent_p.T627T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	758					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACTGTGACCTTTGCCTTGG	0.507																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2272-2274)acC>acT		integrin, alpha 10							197.0	177.0	184.0					1																	145536894		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145536894C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2274C>T	1.37:g.145536894C>T						ITGA10_ENST00000539363.1_Silent_p.T615T|ITGA10_ENST00000538811.1_Silent_p.T627T	p.T758T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			18	2449	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		758					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.2274C>T	CCDS918.1																																																																																				0.507	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		240	733	0	0	0	1	0	240	733				
MRPS36	92259	broad.mit.edu	37	5	68524042	68524042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524042G>T	ENST00000256441.4	+	3	192	c.122G>T	c.(121-123)aGa>aTa	p.R41I	MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	41					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GAAGCTTTGAGATCAGCAGGG	0.338																																						ENST00000256441.4																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7						c.(121-123)aGa>aTa		mitochondrial ribosomal protein S36							50.0	53.0	52.0					5																	68524042		2203	4300	6503	SO:0001583	missense	92259				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr5:68524042G>T		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.122G>T	5.37:g.68524042G>T	ENSP00000256441:p.Arg41Ile					MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	p.R41I	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)	3	192	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	41					Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	37	c.122G>T	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927759	0.52759	.	.	ENSG00000134056	ENST00000256441	.	.	.	5.49	4.43	0.53597	.	0.250556	0.36854	N	0.002374	T	0.42607	0.1210	L	0.29908	0.895	0.53688	D	0.999973	P	0.36249	0.545	B	0.41988	0.372	T	0.42327	-0.9458	9	0.62326	D	0.03	-2.6775	7.3681	0.26785	0.2318:0.0:0.7682:0.0	.	41	P82909	RT36_HUMAN	I	41	.	ENSP00000256441:R41I	R	+	2	0	MRPS36	68559798	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.502000	0.45398	2.575000	0.86900	0.460000	0.39030	AGA		0.338	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	NM_033281		43	229	1	0	6.45866e-13	1	6.95527e-13	43	229				
ZZZ3	26009	broad.mit.edu	37	1	78031830	78031830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78031830G>A	ENST00000370801.3	-	14	2978	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	835					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAATGCCACCGAACACCCTGG	0.383																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2503-2505)Cgg>Tgg		zinc finger, ZZ-type containing 3							60.0	58.0	59.0					1																	78031830		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78031830G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2503C>T	1.37:g.78031830G>A	ENSP00000359837:p.Arg835Trp					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W	p.R835W	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			14	2978	-			835					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2503C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102886	0.56183	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.96554	-4.05;-4.05	5.23	4.3	0.51218	Zinc finger, ZZ-type (4);	0.000000	0.64402	D	0.000001	D	0.98182	0.9399	M	0.92077	3.27	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;D;D	0.65987	0.809;0.94;0.917	D	0.99167	1.0863	10	0.87932	D	0	.	16.0294	0.80567	0.0:0.1346:0.8654:0.0	.	341;835;834	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	W	835;341	ENSP00000359837:R835W;ENSP00000359834:R341W	ENSP00000359834:R341W	R	-	1	2	ZZZ3	77804418	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.698000	0.84413	1.301000	0.44836	0.655000	0.94253	CGG		0.383	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		18	73	0	0	0	1	0	18	73				
KANSL3	55683	broad.mit.edu	37	2	97268076	97268076	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97268076C>T	ENST00000431828.1	-	19	2336		c.e19-1		KANSL3_ENST00000440133.1_Splice_Site|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Splice_Site			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CACTGGTGGCCTGTGGGACAC	0.557																																						ENST00000599854.1																			0											c.e19-1		KAT8 regulatory NSL complex subunit 3							22.0	24.0	23.0					2																	97268076		2047	4194	6241	SO:0001630	splice_region_variant	55683							g.chr2:97268076C>T	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2260-1G>A	2.37:g.97268076C>T						KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000440133.1_Splice_Site|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000431828.1_Splice_Site		NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			19	2466	-								A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Splice_Site	SNP	ENST00000431828.1	37		CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849365	0.71603	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5727	0.76352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1310	96631803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.928000	0.70088	2.738000	0.93877	0.655000	0.94253	.		0.557	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	Intron	12	63	0	0	0	1	0	12	63				
DMD	1756	broad.mit.edu	37	X	32841471	32841471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32841471C>T	ENST00000357033.4	-	5	504	c.298G>A	c.(298-300)Gta>Ata	p.V100I	DMD_ENST00000378677.2_Missense_Mutation_p.V96I|DMD_ENST00000288447.4_Missense_Mutation_p.V92I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	100	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCCATCTACGATGTCAGTA	0.343																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(298-300)Gta>Ata		dystrophin							156.0	145.0	149.0					X																	32841471		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32841471C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.298G>A	X.37:g.32841471C>T	ENSP00000354923:p.Val100Ile					DMD_ENST00000288447.4_Missense_Mutation_p.V92I|DMD_ENST00000378677.2_Missense_Mutation_p.V96I	p.V100I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			5	504	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	100			Actin-binding.|CH 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.298G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931665	0.92389	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.68	5.68	0.88126	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.33457	U	0.004883	D	0.97723	0.9253	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	0.997;0.996;1.0;0.997	P;P;D;P	0.85130	0.732;0.612;0.997;0.732	D	0.98391	1.0563	10	0.87932	D	0	.	18.8699	0.92309	0.0:1.0:0.0:0.0	.	92;92;100;96	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	92;96;100;100;92;63	ENSP00000367948:V96I;ENSP00000354923:V100I;ENSP00000288447:V92I;ENSP00000395904:V63I	ENSP00000288447:V92I	V	-	1	0	DMD	32751392	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.403000	0.81681	0.523000	0.50628	GTA		0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		86	298	0	0	0	1	0	86	298				
CFAP61	26074	broad.mit.edu	37	20	20279025	20279025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20279025C>T	ENST00000245957.5	+	25	3493	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1139										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCACAGATCTCTATAGGTGAG	0.463																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(3415-3417)ctC>ctT		chromosome 20 open reading frame 26							58.0	53.0	55.0					20																	20279025		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20279025C>T																												ENST00000245957.5:c.3417C>T	20.37:g.20279025C>T						C20orf26_ENST00000377309.2_3'UTR	p.L1139L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3493	+			1139					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.3417C>T	CCDS33447.1																																																																																				0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			25	118	0	0	0	1	0	25	118				
NEDD4	4734	broad.mit.edu	37	15	56132913	56132913	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56132913G>A	ENST00000508342.1	-	16	3407	c.3108C>T	c.(3106-3108)acC>acT	p.T1036T	NEDD4_ENST00000338963.2_Silent_p.T964T|NEDD4_ENST00000506154.1_Silent_p.T1020T|NEDD4_ENST00000435532.3_Silent_p.T617T	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1036	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTATCTGTAGGGTATAATTGT	0.343																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3106-3108)acC>acT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							128.0	138.0	135.0					15																	56132913		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56132913G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3108C>T	15.37:g.56132913G>A						NEDD4_ENST00000338963.2_Silent_p.T964T|NEDD4_ENST00000435532.3_Silent_p.T617T|NEDD4_ENST00000506154.1_Silent_p.T1020T	p.T1036T			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	16	3407	-			1036			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.3108C>T		.	.	.	.	.	.	.	.	.	.	G	8.466	0.856497	0.17106	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.96	3.05	0.35203	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	4.4455	0.11595	0.2991:0.0:0.5536:0.1473	.	.	.	.	L	627	.	.	P	-	2	0	NEDD4	53920205	0.658000	0.27402	0.998000	0.56505	0.998000	0.95712	-0.196000	0.09532	0.398000	0.25338	0.655000	0.94253	CCC		0.343	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		57	594	0	0	0	1	0	57	594				
SMG7	9887	broad.mit.edu	37	1	183513549	183513549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183513549C>T	ENST00000347615.2	+	15	2023	c.1904C>T	c.(1903-1905)aCt>aTt	p.T635I	SMG7_ENST00000507469.1_Missense_Mutation_p.T589I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I|SMG7_ENST00000367537.3_Missense_Mutation_p.T618I|SMG7_ENST00000508461.1_Missense_Mutation_p.T593I	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	635					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACACCTGTAACTCAAACCCCA	0.423																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1852-1854)aCt>aTt		SMG7 nonsense mediated mRNA decay factor							126.0	117.0	120.0					1																	183513549		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183513549C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1904C>T	1.37:g.183513549C>T	ENSP00000340766:p.Thr635Ile					SMG7_ENST00000347615.2_Missense_Mutation_p.T635I|SMG7_ENST00000508461.1_Missense_Mutation_p.T593I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I|SMG7_ENST00000507469.1_Missense_Mutation_p.T589I	p.T618I			Q92540	SMG7_HUMAN			16	2048	+			635					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1853C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221780	0.79464	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.91	5.91	0.95273	.	0.095984	0.64402	D	0.000001	T	0.64360	0.2591	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.998;0.998;0.999;0.999;0.624	D;D;D;D;D;B	0.80764	0.991;0.987;0.987;0.994;0.991;0.206	T	0.61997	-0.6947	10	0.44086	T	0.13	-4.6888	20.2985	0.98592	0.0:1.0:0.0:0.0	.	593;618;547;589;635;589	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	547;618;593;547;635;589;589	ENSP00000407629:T547I;ENSP00000356507:T618I;ENSP00000426915:T593I;ENSP00000388390:T547I;ENSP00000340766:T635I;ENSP00000425133:T589I;ENSP00000421358:T589I	ENSP00000340766:T635I	T	+	2	0	SMG7	181780172	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.507000	0.66999	2.793000	0.96121	0.655000	0.94253	ACT		0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		138	356	0	0	0	1	0	138	356				
KCNK3	3777	broad.mit.edu	37	2	26916011	26916011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26916011G>A	ENST00000302909.3	+	1	393	c.268G>A	c.(268-270)Gtc>Atc	p.V90I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	90					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CGCCATCACCGTCATCACCAC	0.746																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(268-270)Gtc>Atc		potassium channel, subfamily K, member 3							16.0	18.0	17.0					2																	26916011		2151	4237	6388	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26916011G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.268G>A	2.37:g.26916011G>A	ENSP00000306275:p.Val90Ile						p.V90I	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			1	393	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		90					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.268G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419167	0.83559	.	.	ENSG00000171303	ENST00000302909	T	0.24908	1.83	3.15	3.15	0.36227	Ion transport 2 (1);	0.000000	0.64402	D	0.000006	T	0.43211	0.1237	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.41840	-0.9486	10	0.87932	D	0	.	11.793	0.52080	0.0:0.0:1.0:0.0	.	90	O14649	KCNK3_HUMAN	I	90	ENSP00000306275:V90I	ENSP00000306275:V90I	V	+	1	0	KCNK3	26769515	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.776000	0.91776	1.625000	0.50366	0.305000	0.20034	GTC		0.746	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		126	256	0	0	0	1	0	126	256				
LCMT2	9836	broad.mit.edu	37	15	43621480	43621480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43621480C>A	ENST00000305641.5	-	1	1323	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	403					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCCTATTTGGCTGCCTTTCCA	0.532																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1207-1209)aGc>aTc		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						106.0	111.0	109.0					15																	43621480		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621480C>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1208G>T	15.37:g.43621480C>A	ENSP00000307214:p.Ser403Ile					LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	p.S403I	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1323	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	403					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1208G>T	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.838980	0.16891	.	.	ENSG00000168806	ENST00000305641	T	0.74315	-0.83	4.99	1.83	0.25207	.	0.643115	0.16492	N	0.212070	T	0.52306	0.1726	N	0.14661	0.345	0.58432	D	0.999998	B	0.18610	0.029	B	0.16722	0.016	T	0.31364	-0.9946	10	0.33940	T	0.23	-10.8025	5.1773	0.15141	0.2037:0.6553:0.0:0.1411	.	403	O60294	LCMT2_HUMAN	I	403	ENSP00000307214:S403I	ENSP00000307214:S403I	S	-	2	0	LCMT2	41408772	0.188000	0.23250	0.942000	0.38095	0.706000	0.40770	0.084000	0.14891	0.274000	0.22072	0.655000	0.94253	AGC		0.532	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		106	447	1	0	9.91269e-35	1	1.18019e-34	106	447				
LPA	4018	broad.mit.edu	37	6	161015074	161015074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161015074G>A	ENST00000316300.5	-	22	3589	c.3545C>T	c.(3544-3546)aCc>aTc	p.T1182I	LPA_ENST00000447678.1_Missense_Mutation_p.T1182I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3690	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGACAGTGGTAGAGAATGA	0.473																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3544-3546)aCc>aTc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						158.0	159.0	159.0					6																	161015074		2077	4253	6330	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161015074G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3545C>T	6.37:g.161015074G>A	ENSP00000321334:p.Thr1182Ile					LPA_ENST00000316300.5_Missense_Mutation_p.T1182I	p.T1182I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	23	3665	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3690			Kringle 11.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3545C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	6.106	0.387885	0.11581	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63096	-0.02;-0.02	2.56	0.653	0.17828	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.57110	0.2031	M	0.62209	1.925	0.09310	N	1	D	0.65815	0.995	D	0.83275	0.996	T	0.42982	-0.9419	9	0.40728	T	0.16	.	4.8007	0.13296	0.3309:0.0:0.6691:0.0	.	3690	P08519	APOA_HUMAN	I	1182	ENSP00000321334:T1182I;ENSP00000395608:T1182I	ENSP00000321334:T1182I	T	-	2	0	LPA	160935064	0.657000	0.27393	0.009000	0.14445	0.060000	0.15804	0.101000	0.15251	-0.002000	0.14469	0.436000	0.28706	ACC		0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		103	455	0	0	0	1	0	103	455				
MST1R	4486	broad.mit.edu	37	3	49940299	49940299	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940299T>C	ENST00000296474.3	-	1	771	c.744A>G	c.(742-744)gaA>gaG	p.E248E	MST1R_ENST00000344206.4_Silent_p.E248E|CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	248	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTGCACGTATTCAATACTGT	0.572																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(742-744)gaA>gaG		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							63.0	58.0	60.0					3																	49940299		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940299T>C	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.744A>G	3.37:g.49940299T>C						CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.E248E	p.E248E	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	771	-			248			Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.744A>G	CCDS2807.1																																																																																				0.572	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			55	266	0	0	0	1	0	55	266				
CACNA1D	776	broad.mit.edu	37	3	53700441	53700441	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53700441A>C	ENST00000350061.5	+	7	1506	c.995A>C	c.(994-996)gAa>gCa	p.E332A	CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E332A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	332					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AATGGCACGGAATGTAGGAGT	0.527																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(994-996)gAa>gCa		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						218.0	209.0	212.0					3																	53700441		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53700441A>C	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.995A>C	3.37:g.53700441A>C	ENSP00000288133:p.Glu332Ala					CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E332A	p.E332A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	7	1113	+			332					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.995A>C	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.30|15.30	2.791494|2.791494	0.50102|0.50102	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478|ENST00000481085	D;D;D;D|.	0.96200|.	-3.91;-3.94;-3.93;-3.91|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Ion transport (1);|.	0.157207|.	0.44902|.	D|.	0.000420|.	T|T	0.71660|0.71660	0.3366|0.3366	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	P;B;B|.	0.36837|.	0.571;0.068;0.321|.	P;B;B|.	0.46208|.	0.507;0.102;0.281|.	T|T	0.72603|0.72603	-0.4243|-0.4243	10|5	0.32370|.	T|.	0.25|.	.|.	10.5953|10.5953	0.45333|0.45333	0.8565:0.0:0.0:0.1435|0.8565:0.0:0.0:0.1435	.|.	332;332;332|.	B0FYA3;Q01668;Q01668-2|.	.;CAC1D_HUMAN;.|.	A|H	332;332;332;5|18	ENSP00000288133:E332A;ENSP00000288139:E332A;ENSP00000409174:E332A;ENSP00000418014:E5A|.	ENSP00000288139:E332A|.	E|N	+|+	2|1	0|0	CACNA1D|CACNA1D	53675481|53675481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.768000|3.768000	0.55295|0.55295	2.215000|2.215000	0.71742|0.71742	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		179	883	0	0	0	1	0	179	883				
NTM	50863	broad.mit.edu	37	11	132082001	132082001	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132082001A>G	ENST00000374786.1	+	3	965	c.486A>G	c.(484-486)agA>agG	p.R162R	NTM_ENST00000427481.2_Silent_p.R153R|NTM_ENST00000374784.1_Silent_p.R162R|NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	162	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAACTGGTAGACCAGAGCCTA	0.423																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(484-486)agA>agG		neurotrimin							141.0	139.0	140.0					11																	132082001		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132082001A>G	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.486A>G	11.37:g.132082001A>G						NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000427481.2_Silent_p.R153R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000374784.1_Silent_p.R162R	p.R162R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			3	965	+			162			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.486A>G	CCDS8491.1																																																																																				0.423	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		8	337	0	0	0	1	0	8	337				
TRPM7	54822	broad.mit.edu	37	15	50911964	50911964	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50911964T>G	ENST00000313478.7	-	13	1753	c.1472A>C	c.(1471-1473)cAt>cCt	p.H491P	TRPM7_ENST00000560955.1_Missense_Mutation_p.H491P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	491					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCGAACAAGATGAAACAGCAT	0.254																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(1471-1473)cAt>cCt		transient receptor potential cation channel, subfamily M, member 7							58.0	54.0	55.0					15																	50911964		1787	4058	5845	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50911964T>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1472A>C	15.37:g.50911964T>G	ENSP00000320239:p.His491Pro					TRPM7_ENST00000560955.1_Missense_Mutation_p.H491P	p.H491P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	13	1753	-			491					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1472A>C	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865604	0.71949	.	.	ENSG00000092439	ENST00000313478	T	0.55234	0.53	4.11	4.11	0.48088	.	0.170164	0.52532	D	0.000077	T	0.59797	0.2220	L	0.58583	1.82	0.52099	D	0.999947	D	0.67145	0.996	P	0.53649	0.731	T	0.65627	-0.6122	10	0.87932	D	0	-15.5063	12.7744	0.57439	0.0:0.0:0.0:1.0	.	491	Q96QT4	TRPM7_HUMAN	P	491	ENSP00000320239:H491P	ENSP00000320239:H491P	H	-	2	0	TRPM7	48699256	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.443000	0.80521	1.867000	0.54127	0.456000	0.33151	CAT		0.254	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		6	192	0	0	0	1	0	6	192				
UPP2	151531	broad.mit.edu	37	2	158958634	158958634	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158958634T>C	ENST00000005756.4	+	1	253	c.59T>C	c.(58-60)gTt>gCt	p.V20A	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_Missense_Mutation_p.V77A|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	20					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	AATACATATGTTGGGTGAGTA	0.353																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(229-231)gTt>gCt		uridine phosphorylase 2							135.0	145.0	142.0					2																	158958634		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158958634T>C	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.59T>C	2.37:g.158958634T>C	ENSP00000005756:p.Val20Ala					UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A|UPP2_ENST00000005756.4_Missense_Mutation_p.V20A	p.V77A			O95045	UPP2_HUMAN			4	276	+			20					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.230T>C	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.917797	0.00503	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.30714	1.52;1.6	5.67	1.66	0.24008	.	0.799265	0.11506	N	0.557199	T	0.16557	0.0398	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.08179	T	0.78	.	5.5721	0.17202	0.1839:0.0:0.2736:0.5425	.	20	O95045	UPP2_HUMAN	A	77;20	ENSP00000387230:V77A;ENSP00000005756:V20A	ENSP00000005756:V20A	V	+	2	0	UPP2	158666880	0.344000	0.24827	0.004000	0.12327	0.089000	0.18198	0.340000	0.19892	0.036000	0.15547	0.533000	0.62120	GTT		0.353	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		107	535	0	0	0	1	0	107	535				
ST6GALNAC3	256435	broad.mit.edu	37	1	76779638	76779638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76779638G>A	ENST00000328299.3	+	2	315	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	56					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATACAGGCGGCCCCTTCGA	0.443																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(166-168)cGg>cAg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							139.0	125.0	130.0					1																	76779638		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779638G>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.167G>A	1.37:g.76779638G>A	ENSP00000329214:p.Arg56Gln					ST6GALNAC3_ENST00000464140.1_3'UTR	p.R56Q	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			2	315	+			56					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.167G>A	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385694	0.25031	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30182	1.54	5.12	2.17	0.27698	.	0.456464	0.24298	N	0.039741	T	0.03136	0.0092	N	0.03115	-0.41	0.22521	N	0.99902	B;B	0.24368	0.102;0.009	B;B	0.17722	0.019;0.002	T	0.45512	-0.9256	10	0.13108	T	0.6	-44.1687	7.3081	0.26459	0.3809:0.0:0.6191:0.0	.	56;56	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	Q	56;56;55	ENSP00000329214:R56Q	ENSP00000329214:R56Q	R	+	2	0	ST6GALNAC3	76552226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.749000	0.38319	0.523000	0.28482	0.491000	0.48974	CGG		0.443	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		27	333	0	0	0	1	0	27	333				
EPRS	2058	broad.mit.edu	37	1	220146653	220146653	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220146653T>C	ENST00000366923.3	-	29	4440	c.4171A>G	c.(4171-4173)Aca>Gca	p.T1391A		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1391	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TCAGCAACTGTCAGCTTTTCT	0.413																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(4171-4173)Aca>Gca		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						163.0	152.0	156.0					1																	220146653		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220146653T>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4171A>G	1.37:g.220146653T>C	ENSP00000355890:p.Thr1391Ala						p.T1391A	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	29	4440	-			1391			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.4171A>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160452	0.78226	.	.	ENSG00000136628	ENST00000366923	D	0.82984	-1.67	5.81	5.81	0.92471	Anticodon-binding (3);	0.048876	0.85682	D	0.000000	D	0.83156	0.5193	L	0.59436	1.845	0.53005	D	0.999969	B	0.31640	0.333	B	0.37091	0.241	T	0.82780	-0.0288	10	0.56958	D	0.05	-14.8289	16.1668	0.81768	0.0:0.0:0.0:1.0	.	1391	P07814	SYEP_HUMAN	A	1391	ENSP00000355890:T1391A	ENSP00000355890:T1391A	T	-	1	0	EPRS	218213276	1.000000	0.71417	0.979000	0.43373	0.784000	0.44337	4.732000	0.62029	2.210000	0.71456	0.533000	0.62120	ACA		0.413	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		24	602	0	0	0	1	0	24	602				
DDB1	1642	broad.mit.edu	37	11	61079518	61079518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61079518G>A	ENST00000301764.7	-	17	2505	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	703	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCATCGATGGTGCCAATGGT	0.552								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2107-2109)aCc>aTc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							173.0	160.0	165.0					11																	61079518		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61079518G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2108C>T	11.37:g.61079518G>A	ENSP00000301764:p.Thr703Ile					DDB1_ENST00000450997.2_Intron	p.T703I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			17	2505	-			703			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2108C>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074833	0.94000	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.32023	1.47;1.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.81239	2.535	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.60984	-0.7154	10	0.54805	T	0.06	-30.8279	19.9702	0.97282	0.0:0.0:1.0:0.0	.	703	Q16531	DDB1_HUMAN	I	703;170	ENSP00000301764:T703I;ENSP00000444650:T170I	ENSP00000301764:T703I	T	-	2	0	DDB1	60836094	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.869000	0.99810	2.724000	0.93272	0.491000	0.48974	ACC		0.552	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		62	698	0	0	0	1	0	62	698				
STAT6	6778	broad.mit.edu	37	12	57492642	57492642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57492642C>T	ENST00000300134.3	-	18	2324	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	STAT6_ENST00000538913.2_Missense_Mutation_p.V557M|STAT6_ENST00000454075.3_Missense_Mutation_p.V667M|STAT6_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M|STAT6_ENST00000556155.1_Missense_Mutation_p.V667M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	667					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TAAGAAGGCACCATGGTAGGC	0.552																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1999-2001)Gtg>Atg		signal transducer and activator of transcription 6, interleukin-4 induced							179.0	183.0	181.0					12																	57492642		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57492642C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1999G>A	12.37:g.57492642C>T	ENSP00000300134:p.Val667Met					STAT6_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000538913.2_Missense_Mutation_p.V557M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M|STAT6_ENST00000556155.1_Missense_Mutation_p.V667M|STAT6_ENST00000454075.3_Missense_Mutation_p.V667M	p.V667M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			18	2324	-			667					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1999G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074910	0.36566	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.91945	-2.7;-2.94;-2.7;-2.7;-2.94;-2.7;-1.14	5.91	-2.12	0.07165	.	0.859837	0.10251	N	0.697198	D	0.82962	0.5151	N	0.24115	0.695	0.29201	N	0.875242	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.68232	-0.5463	10	0.46703	T	0.11	-1.3655	5.7139	0.17950	0.0:0.316:0.3716:0.3124	.	667;667	A8K4S9;P42226	.;STAT6_HUMAN	M	667;557;557;667;667;557;667;557;95;667	ENSP00000300134:V667M;ENSP00000445409:V557M;ENSP00000438451:V667M;ENSP00000451742:V667M;ENSP00000444530:V557M;ENSP00000401486:V667M;ENSP00000450428:V95M	ENSP00000300134:V667M	V	-	1	0	STAT6	55778909	0.020000	0.18652	0.064000	0.19789	0.933000	0.57130	-1.084000	0.03393	-0.754000	0.04715	-0.140000	0.14226	GTG		0.552	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		11	398	0	0	0	1	0	11	398				
CERS2	29956	broad.mit.edu	37	1	150940918	150940918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150940918C>T	ENST00000271688.6	-	3	630	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.A82T|CERS2_ENST00000368954.5_Missense_Mutation_p.A82T|RP11-316M1.12_ENST00000560481.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	82					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TCCAAGGTGGCGTTGGGAGGT	0.557																																						ENST00000271688.6																			0											c.(244-246)Gcc>Acc		ceramide synthase 2							83.0	77.0	79.0					1																	150940918		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940918C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.244G>A	1.37:g.150940918C>T	ENSP00000271688:p.Ala82Thr					CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.A82T|CERS2_ENST00000561294.1_Missense_Mutation_p.A82T	p.A82T	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			3	630	-			82					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.244G>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745555	0.49151	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.08	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.053822	0.85682	D	0.000000	T	0.08626	0.0214	N	0.25890	0.77	0.43569	D	0.995897	B	0.13145	0.007	B	0.13407	0.009	T	0.07328	-1.0778	10	0.28530	T	0.3	-10.074	13.8461	0.63468	0.0:0.4626:0.5374:0.0	.	82	Q96G23	CERS2_HUMAN	T	82;82;102;82;82;82	ENSP00000357950:A82T;ENSP00000271688:A82T;ENSP00000357945:A102T;ENSP00000355020:A82T;ENSP00000393239:A82T;ENSP00000394012:A82T	ENSP00000271688:A82T	A	-	1	0	CERS2	149207542	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.063000	0.49978	1.385000	0.46445	0.655000	0.94253	GCC		0.557	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		57	222	0	0	0	1	0	57	222				
KCNH1	3756	broad.mit.edu	37	1	210971047	210971047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210971047C>A	ENST00000271751.4	-	9	1745	c.1718G>T	c.(1717-1719)cGc>cTc	p.R573L	KCNH1_ENST00000367007.4_Missense_Mutation_p.R546L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	573					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAACACCTTGCGGTTCAGGTG	0.617																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1636-1638)cGc>cTc		potassium voltage-gated channel, subfamily H (eag-related), member 1							62.0	58.0	59.0					1																	210971047		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210971047C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1718G>T	1.37:g.210971047C>A	ENSP00000271751:p.Arg573Leu					KCNH1_ENST00000271751.4_Missense_Mutation_p.R573L	p.R546L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	9	1806	-			573					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1637G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233888	0.95207	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96334	-3.98;-3.98	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.050022	0.85682	D	0.000000	D	0.98040	0.9354	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75020	0.985;0.975	D	0.98880	1.0769	10	0.87932	D	0	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	546;573	Q14CL3;O95259	.;KCNH1_HUMAN	L	573;546	ENSP00000271751:R573L;ENSP00000355974:R546L	ENSP00000271751:R573L	R	-	2	0	KCNH1	209037670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	CGC		0.617	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		55	306	1	0	2.12129e-23	1	2.41242e-23	55	306				
SPZ1	84654	broad.mit.edu	37	5	79616966	79616966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79616966G>A	ENST00000296739.4	+	1	1177	c.932G>A	c.(931-933)aGc>aAc	p.S311N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	311	Leucine-zipper.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAACTGAGCCATGACACC	0.433																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(931-933)aGc>aAc		spermatogenic leucine zipper 1							124.0	121.0	122.0					5																	79616966		1928	4132	6060	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616966G>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.932G>A	5.37:g.79616966G>A	ENSP00000369611:p.Ser311Asn						p.S311N	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1177	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	311			Leucine-zipper.		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.932G>A	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	6.083	0.383628	0.11524	.	.	ENSG00000164299	ENST00000296739	T	0.30714	1.52	4.4	0.319	0.15873	.	1.382680	0.04413	N	0.366357	T	0.23766	0.0575	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22906	-1.0203	10	0.27082	T	0.32	-10.4049	7.5922	0.28027	0.6711:0.0:0.3289:0.0	.	311	Q9BXG8	SPZ1_HUMAN	N	311	ENSP00000369611:S311N	ENSP00000369611:S311N	S	+	2	0	SPZ1	79652722	0.014000	0.17966	0.000000	0.03702	0.007000	0.05969	0.609000	0.24238	0.051000	0.15978	-0.262000	0.10625	AGC		0.433	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		85	413	0	0	0	1	0	85	413				
UBN1	29855	broad.mit.edu	37	16	4927465	4927465	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4927465G>A	ENST00000396658.4	+	16	4048	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Silent_p.Q1115Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1115					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATATCCCGCAGAGTCTGCCAG	0.642																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3343-3345)caG>caA		ubinuclein 1							112.0	118.0	116.0					16																	4927465		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4927465G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3345G>A	16.37:g.4927465G>A						UBN1_ENST00000545171.1_Intron|UBN1_ENST00000262376.6_Silent_p.Q1115Q|UBN1_ENST00000590769.1_Intron	p.Q1115Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			16	4048	+			1115					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.3345G>A	CCDS10525.1																																																																																				0.642	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		249	987	0	0	0	1	0	249	987				
TTN	7273	broad.mit.edu	37	2	179598373	179598373	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598373C>T	ENST00000591111.1	-	51	15016	c.14792G>A	c.(14791-14793)aGc>aAc	p.S4931N	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S5248N|TTN_ENST00000342992.6_Missense_Mutation_p.S4004N			Q8WZ42	TITIN_HUMAN	titin	12315	Ig-like 29.				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)			AGATGTTTGGCTTCCAGCTTC	0.363																																						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.(15742-15744)aGc>aAc		titin							116.0	113.0	114.0					2																	179598373		1853	4090	5943	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598373C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14792G>A	2.37:g.179598373C>T	ENSP00000465570:p.Ser4931Asn					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4004N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4931N	p.S5248N	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)		53	15967	-			4931			Ig-like 33.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.15743G>A		.	.	.	.	.	.	.	.	.	.	C	12.84	2.057724	0.36277	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71333	0.3327	L	0.53561	1.675	0.80722	D	1	D	0.53312	0.959	P	0.47603	0.551	T	0.73914	-0.3832	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	4931	Q8WZ42	TITIN_HUMAN	N	4004	ENSP00000343764:S4004N	ENSP00000343764:S4004N	S	-	2	0	TTN	179306618	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.024000	0.49674	2.836000	0.97738	0.655000	0.94253	AGC		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		159	434	0	0	0	1	0	159	434				
AKAP14	158798	broad.mit.edu	37	X	119054470	119054470	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119054470G>T	ENST00000371431.3	+	7	768		c.e7-1		AKAP14_ENST00000371423.2_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site|AKAP14_ENST00000491105.1_Splice_Site|RP3-327A19.5_ENST00000455986.1_RNA|AKAP14_ENST00000371425.4_Splice_Site	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14						spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						TTCCTTTGTAGACCAGGAATG	0.333																																						ENST00000371431.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.e7-1		A kinase (PRKA) anchor protein 14							113.0	90.0	98.0					X																	119054470		2203	4300	6503	SO:0001630	splice_region_variant	158798					cytoplasm		g.chrX:119054470G>T	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.495-1G>T	X.37:g.119054470G>T						AKAP14_ENST00000491105.1_Splice_Site|AKAP14_ENST00000371423.2_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site|AKAP14_ENST00000371425.4_Splice_Site		NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN			7	768	+								A6NNZ0|Q86UN4|Q86UN5	Splice_Site	SNP	ENST00000371431.3	37		CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975120	0.18736	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000334356	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8915	0.79303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP14	118938498	1.000000	0.71417	0.975000	0.42487	0.075000	0.17131	5.568000	0.67385	2.136000	0.66102	0.513000	0.50165	.		0.333	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813	Intron	44	179	1	0	5.34276e-22	1	6.03513e-22	44	179				
CRYBG3	131544	broad.mit.edu	37	3	97596325	97596325	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97596325A>C	ENST00000182096.4	+	1	507	c.443A>C	c.(442-444)gAg>gCg	p.E148A		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2096							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCTCACAGGAGGACATTCTA	0.428																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(442-444)gAg>gCg		beta-gamma crystallin domain containing 3							89.0	87.0	88.0					3																	97596325		1921	4132	6053	SO:0001583	missense	131544							g.chr3:97596325A>C			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.443A>C	3.37:g.97596325A>C	ENSP00000182096:p.Glu148Ala						p.E148A	NM_153605.3	NP_705833.3					1	507	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.443A>C		.	.	.	.	.	.	.	.	.	.	A	21.8	4.201890	0.79127	.	.	ENSG00000080200	ENST00000182096	T	0.78924	-1.22	5.9	5.9	0.94986	.	0.093992	0.45606	D	0.000355	T	0.77438	0.4130	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	P	0.51895	0.683	T	0.80346	-0.1421	10	0.87932	D	0	.	14.8985	0.70661	1.0:0.0:0.0:0.0	.	148	Q68DQ2	CRBG3_HUMAN	A	148	ENSP00000182096:E148A	ENSP00000182096:E148A	E	+	2	0	CRYBG3	99079015	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.660000	0.68018	2.266000	0.75297	0.528000	0.53228	GAG		0.428	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		89	360	0	0	0	1	0	89	360				
TMEM64	169200	broad.mit.edu	37	8	91657382	91657382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657382C>T	ENST00000458549.2	-	1	929	c.752G>A	c.(751-753)aGa>aAa	p.R251K	TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K|TMEM64_ENST00000519519.1_Intron|RP11-68L18.1_ENST00000519233.1_RNA|RP11-68L18.1_ENST00000501194.2_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	251					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GGGTGTCAGTCTGGCCAGCGC	0.592											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000458549.2																			0				endometrium(1)|large_intestine(1)	2						c.(751-753)aGa>aAa		transmembrane protein 64							69.0	72.0	71.0					8																	91657382		2203	4300	6503	SO:0001583	missense	169200					integral to membrane		g.chr8:91657382C>T	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.752G>A	8.37:g.91657382C>T	ENSP00000414786:p.Arg251Lys		OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K	p.R251K	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		1	929	-			251					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	c.752G>A	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	C	35	5.497108	0.96355	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.992	D	0.89203	0.3559	9	0.72032	D	0.01	.	16.5351	0.84371	0.0:1.0:0.0:0.0	.	251;251	F5GXM4;Q6YI46	.;TMM64_HUMAN	K	251;251;120	.	ENSP00000411951:R251K	R	-	2	0	TMEM64	91726558	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.277000	0.78572	2.098000	0.63641	0.555000	0.69702	AGA		0.592	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		61	347	0	0	0	1	0	61	347				
RASAL1	8437	broad.mit.edu	37	12	113553024	113553024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113553024G>A	ENST00000261729.5	-	12	1364	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	RASAL1_ENST00000546530.1_Missense_Mutation_p.S350L|RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	350	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGTTCCATCGACTTGGATGC	0.572																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1048-1050)tCg>tTg		RAS protein activator like 1 (GAP1 like)							200.0	199.0	200.0					12																	113553024		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553024G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1049C>T	12.37:g.113553024G>A	ENSP00000261729:p.Ser350Leu					RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L|RASAL1_ENST00000261729.5_Missense_Mutation_p.S350L|RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR	p.S350L	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			12	1334	-			350			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1049C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029248	0.93518	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.78	4.78	0.61160	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.192965	0.46442	D	0.000297	T	0.79975	0.4539	L	0.37750	1.13	0.44745	D	0.997741	P;P;P;P;P;D;P	0.60160	0.953;0.889;0.942;0.953;0.873;0.987;0.942	P;P;B;P;B;P;B	0.56700	0.557;0.653;0.422;0.557;0.404;0.804;0.422	T	0.81673	-0.0826	10	0.52906	T	0.07	.	16.5796	0.84711	0.0:0.0:1.0:0.0	.	350;350;350;362;350;350;350	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	L	350	ENSP00000450244:S350L;ENSP00000261729:S350L;ENSP00000395920:S350L;ENSP00000448510:S350L	ENSP00000261729:S350L	S	-	2	0	RASAL1	112037407	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.312000	0.78968	2.205000	0.71048	0.491000	0.48974	TCG		0.572	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		148	786	0	0	0	1	0	148	786				
CHAT	1103	broad.mit.edu	37	10	50835752	50835752	+	Silent	SNP	C	C	T	rs145203976	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50835752C>T	ENST00000337653.2	+	7	1185	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	CHAT_ENST00000351556.3_Silent_p.D226D|CHAT_ENST00000339797.1_Silent_p.D226D|CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000395559.2_Silent_p.D226D|CHAT_ENST00000395562.2_Silent_p.D262D	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	344					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCAACGAGGACGAGCGTTTGC	0.552																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(784-786)gaC>gaT		choline O-acetyltransferase	Choline(DB00122)	C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	145.0	121.0	129.0		678,786,678,1032,678,678,678	-8.2	0.6	10	dbSNP_134	129	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,,,,	226/631,262/667,226/631,344/749,226/631,226/631,226/631	50835752	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835752C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1032C>T	10.37:g.50835752C>T						CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000351556.3_Silent_p.D226D|CHAT_ENST00000339797.1_Silent_p.D226D|CHAT_ENST00000337653.2_Silent_p.D344D|CHAT_ENST00000395559.2_Silent_p.D226D	p.D262D	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1255	+		all_neural(218;0.107)	344	GQ -> PE (in Ref. 1; AAA14245).				A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.786C>T	CCDS7232.1																																																																																				0.552	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		129	516	0	0	0	1	0	129	516				
MKL2	57496	broad.mit.edu	37	16	14234480	14234480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14234480C>T	ENST00000574045.1	+	3	172	c.17C>T	c.(16-18)gCg>gTg	p.A6V	MKL2_ENST00000318282.5_Missense_Mutation_p.A6V|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000571589.1_Missense_Mutation_p.A6V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACACAGGGGCGATAGACACC	0.502																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(16-18)gCg>gTg		MKL/myocardin-like 2							123.0	99.0	107.0					16																	14234480		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14234480C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000574045.1:c.17C>T	16.37:g.14234480C>T	ENSP00000459205:p.Ala6Val					MKL2_ENST00000318282.5_Missense_Mutation_p.A6V|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000574045.1_Missense_Mutation_p.A6V	p.A6V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			3	189	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000574045.1	37	c.17C>T	CCDS32391.1	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158251	0.21454	.	.	ENSG00000186260	ENST00000318282	.	.	.	4.93	2.59	0.31030	.	.	.	.	.	T	0.26774	0.0655	N	0.19112	0.55	0.18873	N	0.999986	B;B	0.25719	0.081;0.132	B;B	0.21546	0.016;0.035	T	0.14868	-1.0457	8	0.23302	T	0.38	.	11.1804	0.48625	0.0:0.8158:0.0:0.1842	.	6;6	B4DGT8;Q9ULH7-4	.;.	V	6	.	ENSP00000339086:A6V	A	+	2	0	MKL2	14141981	0.028000	0.19301	0.537000	0.28052	0.191000	0.23601	0.397000	0.20883	1.083000	0.41159	-0.140000	0.14226	GCG		0.502	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	NM_014048		16	265	0	0	0	1	0	16	265				
FAM83C	128876	broad.mit.edu	37	20	33879692	33879692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879692G>A	ENST00000374408.3	-	1	512	c.416C>T	c.(415-417)aCa>aTa	p.T139I		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	139										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTGAAGCCTGTGGCCTGTGG	0.617																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(415-417)aCa>aTa		family with sequence similarity 83, member C							77.0	79.0	78.0					20																	33879692		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33879692G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.416C>T	20.37:g.33879692G>A	ENSP00000363529:p.Thr139Ile						p.T139I	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	512	-			139					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.416C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054034	0.55218	.	.	ENSG00000125998	ENST00000374408	T	0.11277	2.79	4.83	4.83	0.62350	.	0.338132	0.30959	N	0.008532	T	0.24044	0.0582	L	0.38531	1.155	0.48830	D	0.999719	D	0.89917	1.0	D	0.79784	0.993	T	0.00472	-1.1719	10	0.41790	T	0.15	-27.7727	17.0208	0.86433	0.0:0.0:1.0:0.0	.	139	Q9BQN1	FA83C_HUMAN	I	139	ENSP00000363529:T139I	ENSP00000363529:T139I	T	-	2	0	FAM83C	33343106	1.000000	0.71417	0.997000	0.53966	0.715000	0.41141	3.363000	0.52321	2.682000	0.91365	0.561000	0.74099	ACA		0.617	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			128	587	0	0	0	1	0	128	587				
FAM71B	153745	broad.mit.edu	37	5	156589472	156589472	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156589472T>G	ENST00000302938.4	-	2	1899	c.1804A>C	c.(1804-1806)Acc>Ccc	p.T602P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	602						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGATTTGGTTTCAAAGACG	0.498																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1804-1806)Acc>Ccc		family with sequence similarity 71, member B							147.0	151.0	149.0					5																	156589472		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589472T>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1804A>C	5.37:g.156589472T>G	ENSP00000305596:p.Thr602Pro						p.T602P	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1899	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	602					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1804A>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958315	0.53400	.	.	ENSG00000170613	ENST00000302938	T	0.04454	3.62	4.13	-3.73	0.04398	.	0.794005	0.10676	N	0.646996	T	0.05273	0.0140	L	0.53249	1.67	0.30561	N	0.764537	D	0.54964	0.969	B	0.44315	0.446	T	0.20240	-1.0281	10	0.62326	D	0.03	-3.6571	3.6906	0.08344	0.2992:0.2022:0.0:0.4986	.	602	Q8TC56	FA71B_HUMAN	P	602	ENSP00000305596:T602P	ENSP00000305596:T602P	T	-	1	0	FAM71B	156522050	0.090000	0.21635	0.945000	0.38365	0.514000	0.34195	-1.679000	0.01940	-0.765000	0.04645	0.533000	0.62120	ACC		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		95	868	0	0	0	1	0	95	868				
GRTP1	79774	broad.mit.edu	37	13	113980393	113980393	+	Silent	SNP	C	C	T	rs201875292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113980393C>T	ENST00000375431.4	-	6	650	c.576G>A	c.(574-576)ccG>ccA	p.P192P	GRTP1_ENST00000326039.3_Silent_p.P114P|GRTP1_ENST00000375430.4_Silent_p.P192P	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	192	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCAGCATGGCCGGGCTGTAGT	0.632													C|||	2	0.000399361	0.0008	0.0	5008	,	,		11329	0.001		0.0	False		,,,				2504	0.0					ENST00000375430.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14						c.(574-576)ccG>ccA		growth hormone regulated TBC protein 1		C		0,4406		0,0,2203	35.0	45.0	42.0		576	-9.4	0.0	13		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRTP1	NM_024719.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		192/337	113980393	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79774					intracellular	Rab GTPase activator activity	g.chr13:113980393C>T	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.576G>A	13.37:g.113980393C>T						GRTP1_ENST00000375431.4_Silent_p.P192P|GRTP1_ENST00000326039.3_Silent_p.P114P	p.P192P			Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		6	622	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	192			Rab-GAP TBC.		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Silent	SNP	ENST00000375431.4	37	c.576G>A	CCDS9534.2																																																																																				0.632	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		41	381	0	0	0	1	0	41	381				
LTN1	26046	broad.mit.edu	37	21	30359125	30359125	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30359125T>G	ENST00000361371.5	-	2	252	c.173A>C	c.(172-174)gAc>gCc	p.D58A	LTN1_ENST00000389194.2_Missense_Mutation_p.D104A|LTN1_ENST00000389195.2_Missense_Mutation_p.D104A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	58					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TACAAGACTGTCAATTTCTTC	0.383																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(172-174)gAc>gCc		listerin E3 ubiquitin protein ligase 1							89.0	91.0	90.0					21																	30359125		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30359125T>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.173A>C	21.37:g.30359125T>G	ENSP00000354977:p.Asp58Ala					LTN1_ENST00000389195.2_Missense_Mutation_p.D104A|LTN1_ENST00000389194.2_Missense_Mutation_p.D104A	p.D58A	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			2	323	-			58					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.173A>C		.	.	.	.	.	.	.	.	.	.	T	24.2	4.506445	0.85282	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66099	2.06;2.06;-0.19	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76160	-0.3061	10	0.39692	T	0.17	.	14.5774	0.68258	0.0:0.0:0.0:1.0	.	58	O94822	LTN1_HUMAN	A	104;58;58;104	ENSP00000373846:D104A;ENSP00000354977:D58A;ENSP00000373847:D104A	ENSP00000354977:D58A	D	-	2	0	LTN1	29280996	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.461000	0.80834	2.034000	0.60081	0.459000	0.35465	GAC		0.383	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		71	319	0	0	0	1	0	71	319				
KLK15	55554	broad.mit.edu	37	19	51330990	51330990	+	Missense_Mutation	SNP	C	C	T	rs200999769	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330990C>T	ENST00000598239.1	-	2	155	c.125G>A	c.(124-126)cGt>cAt	p.R42H	KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000326856.4_Missense_Mutation_p.R41H|KLK15_ENST00000596931.1_Missense_Mutation_p.R41H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	42	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AAAGCGTCCACGCTCGTAGAG	0.607																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(121-123)cGt>cAt		kallikrein-related peptidase 15							99.0	72.0	81.0					19																	51330990		2203	4296	6499	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330990C>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.125G>A	19.37:g.51330990C>T	ENSP00000469315:p.Arg42His					KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H|KLK15_ENST00000596931.1_Missense_Mutation_p.R41H|KLK15_ENST00000598239.1_Missense_Mutation_p.R42H	p.R41H	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	251	-		all_neural(266;0.057)	42			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.122G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218055	0.39201	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.93019	-3.15;-3.15	4.66	1.38	0.22167	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.345819	0.20904	N	0.083599	D	0.86502	0.5948	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.28419	0.036;0.067;0.211;0.059	B;B;B;B	0.24269	0.002;0.052;0.032;0.051	T	0.76299	-0.3010	10	0.41790	T	0.15	.	8.055	0.30600	0.0:0.7289:0.0:0.2711	.	42;41;42;42	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	42	ENSP00000415136:R42H;ENSP00000301421:R42H	ENSP00000301421:R42H	R	-	2	0	KLK15	56022802	0.011000	0.17503	0.003000	0.11579	0.895000	0.52256	0.694000	0.25512	0.304000	0.22809	0.561000	0.74099	CGT		0.607	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		15	229	0	0	0	1	0	15	229				
LCP1	3936	broad.mit.edu	37	13	46704966	46704966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46704966C>T	ENST00000398576.2	-	18	2122	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E	LCP1_ENST00000323076.2_Silent_p.E578E|LCP1_ENST00000435666.2_Silent_p.E147E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	578	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTTGAGTTTCTCATCATCAT	0.423			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1732-1734)gaG>gaA		lymphocyte cytosolic protein 1 (L-plastin)							199.0	191.0	194.0					13																	46704966		2203	4300	6503	SO:0001819	synonymous_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46704966C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1734G>A	13.37:g.46704966C>T						LCP1_ENST00000323076.2_Silent_p.E578E|LCP1_ENST00000435666.2_Silent_p.E147E	p.E578E			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	18	2122	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	578			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	c.1734G>A	CCDS9403.1																																																																																				0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		80	401	0	0	0	1	0	80	401				
PCDHGB1	56104	broad.mit.edu	37	5	140731436	140731436	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731436G>A	ENST00000523390.1	+	1	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A537T(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCCCCCGCGCTCAGCGC	0.711																																						ENST00000523390.1																			2	Substitution - Missense(2)	p.A537T(2)	prostate(2)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1609-1611)Gcg>Acg									39.0	48.0	45.0					5																	140731436		2112	4229	6341	SO:0001583	missense	0							g.chr5:140731436G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1609G>A	5.37:g.140731436G>A	ENSP00000429273:p.Ala537Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.A537T	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1609	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1609G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042731	0.36085	.	.	ENSG00000254221	ENST00000523390	T	0.52295	0.67	5.39	1.16	0.20824	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33000	0.0848	L	0.28274	0.84	0.23361	N	0.997831	B;B	0.34241	0.444;0.205	B;B	0.38458	0.18;0.274	T	0.25745	-1.0123	9	0.51188	T	0.08	.	3.9761	0.09475	0.1431:0.3148:0.4298:0.1123	.	537;537	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	537	ENSP00000429273:A537T	ENSP00000429273:A537T	A	+	1	0	PCDHGB1	140711620	0.000000	0.05858	0.969000	0.41365	0.748000	0.42578	-0.363000	0.07593	0.294000	0.22547	0.563000	0.77884	GCG		0.711	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		50	488	0	0	0	1	0	50	488				
MYT1	4661	broad.mit.edu	37	20	62871223	62871223	+	Silent	SNP	C	C	T	rs562780298		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62871223C>T	ENST00000328439.1	+	22	3568	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	MYT1_ENST00000536311.1_Silent_p.I1095I	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGCCCTCATCCAAAGTCTCG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18740	0.0		0.0	False		,,,				2504	0.001				GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3283-3285)atC>atT		myelin transcription factor 1							111.0	115.0	114.0					20																	62871223		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62871223C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3204C>T	20.37:g.62871223C>T						MYT1_ENST00000328439.1_Silent_p.I1068I	p.I1095I			Q01538	MYT1_HUMAN			22	3649	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1068					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.3285C>T	CCDS13558.1																																																																																				0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		127	638	0	0	0	1	0	127	638				
SLC41A3	54946	broad.mit.edu	37	3	125735601	125735601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125735601G>T	ENST00000315891.6	-	7	1101	c.863C>A	c.(862-864)cCa>cAa	p.P288Q	SLC41A3_ENST00000383598.2_Missense_Mutation_p.P262Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CAGGATGATTGGGAACCAGCC	0.607																																						ENST00000383598.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(784-786)cCa>cAa		solute carrier family 41, member 3							84.0	78.0	80.0					3																	125735601		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125735601G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.863C>A	3.37:g.125735601G>T	ENSP00000326070:p.Pro288Gln					SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q|SLC41A3_ENST00000315891.6_Missense_Mutation_p.P288Q	p.P262Q	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	6	1070	-			288					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.785C>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962747	0.92791	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.89414	3.03	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;0.999;1.0;1.0;1.0;1.0	T	0.69942	-0.5008	10	0.72032	D	0.01	2.0573	16.9045	0.86123	0.0:0.0:1.0:0.0	.	171;288;288;252;288;262	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	Q	288;252;262;279;288;171	ENSP00000353533:P288Q;ENSP00000264471:P252Q;ENSP00000373092:P262Q;ENSP00000326070:P288Q;ENSP00000427409:P171Q	ENSP00000326070:P288Q	P	-	2	0	SLC41A3	127218291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.600000	0.90860	2.596000	0.87737	0.591000	0.81541	CCA		0.607	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		60	296	1	0	2.22609e-26	1	2.56449e-26	60	296				
FGB	2244	broad.mit.edu	37	4	155490440	155490440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490440G>T	ENST00000302068.4	+	6	1002	c.939G>T	c.(937-939)aaG>aaT	p.K313N	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.K94N	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGATGGGAAGAATTACTGTG	0.378																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(937-939)aaG>aaT		fibrinogen beta chain	Sucralfate(DB00364)						137.0	130.0	132.0					4																	155490440		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490440G>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.939G>T	4.37:g.155490440G>T	ENSP00000306099:p.Lys313Asn					FGB_ENST00000509493.1_Missense_Mutation_p.K94N|FGB_ENST00000502545.1_3'UTR	p.K313N	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			6	1002	+	all_hematologic(180;0.215)	Renal(120;0.0458)	313			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.939G>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099002	0.37048	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.81163	-1.46;-1.46	5.67	-2.43	0.06522	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	M	0.78223	2.4	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87404	0.2371	10	0.87932	D	0	.	14.6258	0.68621	0.3111:0.0:0.6889:0.0	.	296;313	B4E1D3;P02675	.;FIBB_HUMAN	N	313;296;94	ENSP00000306099:K313N;ENSP00000426757:K94N	ENSP00000306099:K313N	K	+	3	2	FGB	155709890	0.585000	0.26774	0.512000	0.27736	0.144000	0.21451	-0.021000	0.12504	-0.316000	0.08690	-0.302000	0.09304	AAG		0.378	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		50	578	1	0	1.63038e-21	1	1.83746e-21	50	578				
TRADD	8717	broad.mit.edu	37	16	67190432	67190432	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67190432A>G	ENST00000345057.4	-	2	600	c.132T>C	c.(130-132)gcT>gcC	p.A44A	TRADD_ENST00000566104.1_5'UTR|TRADD_ENST00000486556.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	44					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCCTGCAGAGCCCTGTACA	0.627											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(130-132)gcT>gcC		TNFRSF1A-associated via death domain							83.0	72.0	76.0					16																	67190432		2198	4300	6498	SO:0001819	synonymous_variant	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67190432A>G	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.132T>C	16.37:g.67190432A>G			OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	TRADD_ENST00000566104.1_5'UTR	p.A44A	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	600	-		Ovarian(137;0.0563)	44					B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	c.132T>C	CCDS10829.1																																																																																				0.627	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			81	396	0	0	0	1	0	81	396				
FAM3D	131177	broad.mit.edu	37	3	58622881	58622881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58622881C>T	ENST00000358781.2	-	8	755	c.445G>A	c.(445-447)Gat>Aat	p.D149N	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	149					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCCCTGGATCGTCGTAGGAG	0.507																																						ENST00000358781.2																			0				large_intestine(1)|lung(2)	3						c.(445-447)Gat>Aat		family with sequence similarity 3, member D							71.0	67.0	68.0					3																	58622881		2203	4300	6503	SO:0001583	missense	131177				negative regulation of insulin secretion	extracellular region	cytokine activity	g.chr3:58622881C>T	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.445G>A	3.37:g.58622881C>T	ENSP00000351632:p.Asp149Asn						p.D149N	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)	8	755	-			149					Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	c.445G>A	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870487	0.91587	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857	T;T;T	0.50001	1.94;1.13;0.76	5.16	5.16	0.70880	.	0.066529	0.64402	D	0.000010	T	0.74450	0.3718	M	0.90542	3.125	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.80441	-0.1381	10	0.87932	D	0	-50.262	16.5175	0.84304	0.0:1.0:0.0:0.0	.	149	Q96BQ1	FAM3D_HUMAN	N	149;148;112	ENSP00000351632:D149N;ENSP00000417099:D148N;ENSP00000417453:D112N	ENSP00000351632:D149N	D	-	1	0	FAM3D	58597921	1.000000	0.71417	0.970000	0.41538	0.754000	0.42855	6.146000	0.71777	2.559000	0.86315	0.655000	0.94253	GAT		0.507	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		25	105	0	0	0	1	0	25	105				
THEG	51298	broad.mit.edu	37	19	372691	372691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:372691C>T	ENST00000342640.4	-	5	617	c.575G>A	c.(574-576)cGc>cAc	p.R192H	THEG_ENST00000346878.2_Missense_Mutation_p.R168H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	192					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCACGCGGCGGGACACCGC	0.552																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(574-576)cGc>cAc		theg spermatid protein							117.0	100.0	106.0					19																	372691		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:372691C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.575G>A	19.37:g.372691C>T	ENSP00000340088:p.Arg192His					THEG_ENST00000346878.2_Missense_Mutation_p.R168H	p.R192H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	617	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	192					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.575G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076990	0.20227	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.19105	2.17;2.23	3.31	-3.36	0.04913	.	2.622300	0.01419	N	0.014297	T	0.32585	0.0834	M	0.65498	2.005	0.09310	N	1	D;D	0.64830	0.986;0.994	P;P	0.54499	0.674;0.754	T	0.40961	-0.9535	10	0.56958	D	0.05	-11.6402	4.0262	0.09688	0.0:0.3076:0.3472:0.3452	.	168;192	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	H	192;168	ENSP00000340088:R192H;ENSP00000264820:R168H	ENSP00000340088:R192H	R	-	2	0	THEG	323691	0.001000	0.12720	0.005000	0.12908	0.092000	0.18411	-1.869000	0.01643	-0.528000	0.06366	0.561000	0.74099	CGC		0.552	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			36	230	0	0	0	1	0	36	230				
REG1A	5967	broad.mit.edu	37	2	79347941	79347941	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79347941G>A	ENST00000233735.1	+	2	57		c.e2-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha						positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTCTCCTATAGAGATTGTTGA	0.458																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.e2-1		regenerating islet-derived 1 alpha							58.0	52.0	54.0					2																	79347941		2203	4300	6503	SO:0001630	splice_region_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79347941G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.-46-1G>A	2.37:g.79347941G>A								NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			2	57	+								P11379|Q4ZG28	Splice_Site	SNP	ENST00000233735.1	37		CCDS1964.1																																																																																				0.458	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	Intron	8	176	0	0	0	1	0	8	176				
MERTK	10461	broad.mit.edu	37	2	112722774	112722774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112722774C>T	ENST00000295408.4	+	5	1021	c.764C>T	c.(763-765)aCg>aTg	p.T255M	MERTK_ENST00000421804.2_Missense_Mutation_p.T255M|MERTK_ENST00000409780.1_Missense_Mutation_p.T79M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	255	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCAGGCCTGACGGAGATGGCG	0.483																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(763-765)aCg>aTg		c-mer proto-oncogene tyrosine kinase							112.0	92.0	99.0					2																	112722774		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112722774C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.764C>T	2.37:g.112722774C>T	ENSP00000295408:p.Thr255Met					MERTK_ENST00000409780.1_Missense_Mutation_p.T79M|MERTK_ENST00000421804.2_Missense_Mutation_p.T255M	p.T255M			Q12866	MERTK_HUMAN			5	1021	+			255			Ig-like C2-type 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.764C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696541	0.30142	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.13657	2.57;2.57;2.57	5.6	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34460	U	0.003950	T	0.29524	0.0736	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.64506	0.926	T	0.07966	-1.0745	10	0.87932	D	0	-16.4748	9.1185	0.36773	0.2841:0.592:0.1239:0.0	.	255	Q12866	MERTK_HUMAN	M	255;255;79	ENSP00000295408:T255M;ENSP00000389152:T255M;ENSP00000387277:T79M	ENSP00000295408:T255M	T	+	2	0	MERTK	112439245	0.875000	0.30112	0.609000	0.28983	0.053000	0.15095	1.785000	0.38684	1.308000	0.44962	0.563000	0.77884	ACG		0.483	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			55	265	0	0	0	1	0	55	265				
WEE2	494551	broad.mit.edu	37	7	141420796	141420796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141420796C>T	ENST00000397541.2	+	5	1226	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCATGTGGTACGTTACTATTC	0.408																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(820-822)Cgt>Tgt		WEE1 homolog 2 (S. pombe)							146.0	136.0	139.0					7																	141420796		1903	4116	6019	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141420796C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.820C>T	7.37:g.141420796C>T	ENSP00000380675:p.Arg274Cys					WEE2-AS1_ENST00000488785.1_RNA	p.R274C	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			5	1226	+	Melanoma(164;0.0171)		274			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.820C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925600	0.92319	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.68181	0.88;-0.31	5.53	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	D	0.84986	0.5594	H	0.95780	3.72	0.80722	D	1	D	0.56035	0.974	P	0.59357	0.856	D	0.89509	0.3770	10	0.87932	D	0	.	14.5441	0.68015	0.0:0.9296:0.0:0.0704	.	274	P0C1S8	WEE2_HUMAN	C	274;49	ENSP00000380675:R274C;ENSP00000420388:R49C	ENSP00000380675:R274C	R	+	1	0	WEE2	141067265	1.000000	0.71417	0.776000	0.31678	0.983000	0.72400	4.624000	0.61254	1.342000	0.45619	0.655000	0.94253	CGT		0.408	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		111	545	0	0	0	1	0	111	545				
TFPI	7035	broad.mit.edu	37	2	188361643	188361643	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188361643T>G	ENST00000233156.3	-	3	578	c.284A>C	c.(283-285)gAa>gCa	p.E95A	TFPI_ENST00000409676.1_Missense_Mutation_p.E95A|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A|TFPI_ENST00000339091.4_Missense_Mutation_p.E95A|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	95	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTCCAGACTTTCAAATCGATT	0.363																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(283-285)gAa>gCa		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						77.0	80.0	79.0					2																	188361643		2203	4300	6503	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188361643T>G		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.284A>C	2.37:g.188361643T>G	ENSP00000233156:p.Glu95Ala					AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.E95A|TFPI_ENST00000409676.1_Missense_Mutation_p.E95A	p.E95A	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		3	578	-			95			BPTI/Kunitz inhibitor 1.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.284A>C	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095576	0.36952	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.62	1.51	0.23008	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.051830	0.07336	N	0.879995	T	0.44767	0.1309	L	0.44542	1.39	0.09310	N	1	P;B	0.34955	0.477;0.277	B;B	0.37731	0.115;0.257	T	0.29579	-1.0007	10	0.14656	T	0.56	.	9.0121	0.36148	0.5555:0.0:0.0:0.4445	.	95;95	P10646-2;P10646	.;TFPI1_HUMAN	A	95	ENSP00000376172:E95A;ENSP00000233156:E95A;ENSP00000397248:E95A;ENSP00000409177:E95A;ENSP00000386344:E95A;ENSP00000342306:E95A;ENSP00000388159:E95A;ENSP00000408170:E95A;ENSP00000394185:E95A	ENSP00000233156:E95A	E	-	2	0	TFPI	188069888	0.000000	0.05858	0.170000	0.22879	0.926000	0.56050	0.101000	0.15251	0.355000	0.24131	0.477000	0.44152	GAA		0.363	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		77	364	0	0	0	1	0	77	364				
PCDHB17	54661	broad.mit.edu	37	5	140537227	140537227	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140537227C>A	ENST00000539533.1	+	1	1651	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M						protocadherin beta 17 pseudogene																		GGTGCGCGTGCTGGTGTGCTG	0.706																																						ENST00000539533.1																			0											c.(1651-1653)Ctg>Atg																																						SO:0001583	missense	0							g.chr5:140537227C>A	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1651C>A	5.37:g.140537227C>A	ENSP00000438685:p.Leu551Met						p.L551M							1	1651	+									Missense_Mutation	SNP	ENST00000539533.1	37	c.1651C>A		.	.	.	.	.	.	.	.	.	.	C	7.749	0.702850	0.15172	.	.	ENSG00000255622	ENST00000539533	T	0.52526	0.66	4.99	-0.612	0.11597	.	.	.	.	.	T	0.37892	0.1020	.	.	.	.	.	.	P	0.38300	0.626	B	0.37387	0.248	T	0.45190	-0.9278	7	0.56958	D	0.05	.	10.1522	0.42801	0.0777:0.2957:0.556:0.0707	.	551	Q96T98	.	M	551	ENSP00000438685:L551M	ENSP00000438685:L551M	L	+	1	2	AC005754.1	140517411	0.000000	0.05858	0.041000	0.18516	0.912000	0.54170	-3.057000	0.00625	-0.322000	0.08615	-0.321000	0.08615	CTG		0.706	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				134	555	1	0	1.1727e-76	1	1.49653e-76	134	555				
TGFBR1	7046	broad.mit.edu	37	9	101904853	101904853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101904853G>A	ENST00000374994.4	+	5	958	c.841G>A	c.(841-843)Gat>Aat	p.D281N	TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTGGTGTCAGATTATCATGA	0.408																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(841-843)Gat>Aat		transforming growth factor, beta receptor 1							197.0	169.0	179.0					9																	101904853		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101904853G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.841G>A	9.37:g.101904853G>A	ENSP00000364133:p.Asp281Asn					TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N	p.D281N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			5	958	+		Acute lymphoblastic leukemia(62;0.0559)	281			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.841G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598606	0.96614	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.94222	3.51	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.62740	0.906;0.866	D	0.98016	1.0368	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	204;281	P36897-3;P36897	.;TGFR1_HUMAN	N	281;281;204;285;212	ENSP00000364133:D281N;ENSP00000364129:D204N;ENSP00000447297:D285N;ENSP00000450052:D212N	ENSP00000364129:D204N	D	+	1	0	TGFBR1	100944674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.755000	0.98912	2.941000	0.99782	0.655000	0.94253	GAT		0.408	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			37	425	0	0	0	1	0	37	425				
CHST15	51363	broad.mit.edu	37	10	125804230	125804230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804230C>T	ENST00000346248.5	-	3	1394	c.752G>A	c.(751-753)cGc>cAc	p.R251H	CHST15_ENST00000435907.1_Missense_Mutation_p.R251H|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.R251H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	251					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGCAGGCAGCGCAGGCGGAA	0.652																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(751-753)cGc>cAc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							50.0	50.0	50.0					10																	125804230		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804230C>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.752G>A	10.37:g.125804230C>T	ENSP00000333947:p.Arg251His					CHST15_ENST00000435907.1_Missense_Mutation_p.R251H|CHST15_ENST00000421115.1_Missense_Mutation_p.R251H	p.R251H	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			3	1394	-			251					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.752G>A	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551568	0.96501	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.56103	0.48;0.48;0.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.74150	-0.3758	10	0.87932	D	0	-33.2708	17.9025	0.88909	0.0:1.0:0.0:0.0	.	251;251	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	251	ENSP00000333947:R251H;ENSP00000402394:R251H;ENSP00000412477:R251H	ENSP00000333947:R251H	R	-	2	0	CHST15	125794220	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.496000	0.81526	2.648000	0.89879	0.655000	0.94253	CGC		0.652	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		51	169	0	0	0	1	0	51	169				
EPHB4	2050	broad.mit.edu	37	7	100421510	100421510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100421510C>T	ENST00000358173.3	-	3	635	c.167G>A	c.(166-168)cGc>cAc	p.R56H	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	56	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCGTAGGTGCGCACGCTGTG	0.687																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(166-168)cGc>cAc		EPH receptor B4																																				SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421510C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.167G>A	7.37:g.100421510C>T	ENSP00000350896:p.Arg56His					EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H|EPHB4_ENST00000477446.1_5'UTR	p.R56H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	635	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		56					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.167G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.261777	0.80358	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.12465	2.68;2.68	4.93	4.93	0.64822	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000108	T	0.29914	0.0748	L	0.46947	1.48	0.58432	D	0.999999	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;1.0;0.999;1.0	T	0.00849	-1.1541	10	0.28530	T	0.3	.	15.9831	0.80127	0.0:1.0:0.0:0.0	.	56;56;56;56;56	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	H	56	ENSP00000353833:R56H;ENSP00000350896:R56H	ENSP00000350896:R56H	R	-	2	0	EPHB4	100259446	1.000000	0.71417	0.990000	0.47175	0.804000	0.45430	7.763000	0.85283	2.452000	0.82932	0.556000	0.70494	CGC		0.687	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		13	88	0	0	0	1	0	13	88				
KMT2C	58508	broad.mit.edu	37	7	151891109	151891109	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151891109G>A	ENST00000262189.6	-	31	4863	c.4645C>T	c.(4645-4647)Cca>Tca	p.P1549S	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1549S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1549					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGTGTATTGGCAACAGCTGT	0.413																																						ENST00000355193.2																			0											c.(4645-4647)Cca>Tca		lysine (K)-specific methyltransferase 2C							132.0	119.0	123.0					7																	151891109		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151891109G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4645C>T	7.37:g.151891109G>A	ENSP00000262189:p.Pro1549Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.P1549S	p.P1549S							31	4863	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4645C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059299	0.19987	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.45276	0.9;0.9	5.42	3.6	0.41247	.	0.150792	0.30565	N	0.009353	T	0.26702	0.0653	L	0.40543	1.245	0.31239	N	0.695425	B;B	0.33637	0.013;0.42	B;B	0.28465	0.003;0.09	T	0.21177	-1.0253	10	0.07030	T	0.85	.	10.5384	0.45018	0.2239:0.0:0.7761:0.0	.	1549;610	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	1549	ENSP00000262189:P1549S;ENSP00000347325:P1549S	ENSP00000262189:P1549S	P	-	1	0	MLL3	151522042	0.938000	0.31826	0.641000	0.29422	0.888000	0.51559	0.589000	0.23939	1.268000	0.44264	0.650000	0.86243	CCA		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			87	393	0	0	0	1	0	87	393				
HIST1H4D	8360	broad.mit.edu	37	6	26189278	26189278	+	Missense_Mutation	SNP	C	C	A	rs142303259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26189278C>A	ENST00000340756.2	-	1	26	c.27G>T	c.(25-27)aaG>aaT	p.K9N		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	9					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TACCTAGACCCTTTCCGCCCT	0.552																																						ENST00000340756.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8						c.(25-27)aaG>aaT		histone cluster 1, H4d							54.0	58.0	57.0					6																	26189278		2203	4300	6503	SO:0001583	missense	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189278C>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.27G>T	6.37:g.26189278C>A	ENSP00000343282:p.Lys9Asn						p.K9N	NM_003539.3	NP_003530.1	P62805	H4_HUMAN			1	26	-		all_hematologic(11;0.196)	9					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000340756.2	37	c.27G>T	CCDS4589.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363931	0.24684	.	.	ENSG00000188987	ENST00000340756	.	.	.	5.32	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	.	.	.	0.34101	D	0.66189	.	.	.	.	.	.	T	0.56456	-0.7976	6	0.87932	D	0	.	10.6325	0.45545	0.0:0.8096:0.0:0.1904	.	.	.	.	N	9	.	ENSP00000343282:K9N	K	-	3	2	HIST1H4D	26297257	0.016000	0.18221	0.761000	0.31378	0.007000	0.05969	-0.857000	0.04286	0.127000	0.18452	-0.145000	0.13849	AAG		0.552	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		61	438	1	0	1.26778e-28	1	1.47706e-28	61	438				
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35461197G>T	ENST00000378880.2	-	8	1523	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1078-1080)Ctt>Att		peptidase domain containing associated with muscle regeneration 1							165.0	158.0	160.0					11																	35461197		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35461197G>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1078C>A	11.37:g.35461197G>T	ENSP00000368158:p.Leu360Ile					PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I	p.L360I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			8	1523	-			360					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1078C>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463058	0.84425	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.88896	-2.3;-2.34;-2.44;-2.31;-2.27	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.87578	0.998;0.991;0.996	D	0.92559	0.6056	10	0.87932	D	0	.	19.1303	0.93402	0.0:0.0:1.0:0.0	.	249;360;377	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	I	377;360;249;320;337	ENSP00000278360:L377I;ENSP00000368158:L360I;ENSP00000368156:L249I;ENSP00000433868:L320I;ENSP00000432591:L337I	ENSP00000278360:L377I	L	-	1	0	PAMR1	35417773	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.696000	0.68287	2.515000	0.84797	0.643000	0.83706	CTT		0.453	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		86	399	1	0	8.78217e-53	1	1.09303e-52	86	399				
SMARCAL1	50485	broad.mit.edu	37	2	217285059	217285059	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285059G>A	ENST00000357276.4	+	5	1230	c.900G>A	c.(898-900)caG>caA	p.Q300Q	SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	300	HARP 1. {ECO:0000255|PROSITE- ProRule:PRU00800}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCAACCTGCAGCCTCTGGAAT	0.547									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(898-900)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							56.0	48.0	51.0					2																	217285059		2203	4300	6503	SO:0001819	synonymous_variant	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217285059G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.900G>A	2.37:g.217285059G>A						SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	p.Q300Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	5	1230	+		Renal(323;0.0458)	300			HARP 1.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.900G>A	CCDS2403.1																																																																																				0.547	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			16	193	0	0	0	1	0	16	193				
HTR4	3360	broad.mit.edu	37	5	147845485	147845485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147845485G>A	ENST00000314512.6	-	7	1243	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Silent_p.G360G|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CAGGGGAACAGCCACTTTTAG	0.428																																					GBM(120;370 1604 14007 17804 41573)	ENST00000314512.6																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1078-1080)ggC>ggT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						143.0	160.0	154.0					5																	147845485		2203	4300	6503	SO:0001819	synonymous_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147845485G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000314512.6:c.1080C>T	5.37:g.147845485G>A						HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521735.1_Silent_p.G360G	p.G360G	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1243	-			0					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000314512.6	37	c.1080C>T	CCDS34271.1																																																																																				0.428	HTR4-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374235.1	NM_000870		141	744	0	0	0	1	0	141	744				
RNF19A	25897	broad.mit.edu	37	8	101271380	101271380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101271380C>T	ENST00000519449.1	-	11	2237	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	641					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTTCGGGTGGCACTGCCATCA	0.478											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1921-1923)Gcc>Acc		ring finger protein 19A, RBR E3 ubiquitin protein ligase							132.0	114.0	120.0					8																	101271380		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101271380C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1921G>A	8.37:g.101271380C>T	ENSP00000428968:p.Ala641Thr		OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1357	RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T|RNF19A_ENST00000523255.1_5'UTR	p.A641T	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		11	2237	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		641					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1921G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.195037	0.78902	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84146	-1.81;-1.81	5.74	2.54	0.30619	.	0.433072	0.26692	N	0.022992	T	0.78155	0.4239	L	0.36672	1.1	0.09310	N	0.999993	B	0.13594	0.008	B	0.16722	0.016	T	0.69206	-0.5206	10	0.52906	T	0.07	.	12.1983	0.54311	0.0:0.7788:0.0:0.2212	.	641	Q9NV58	RN19A_HUMAN	T	641	ENSP00000428968:A641T;ENSP00000342667:A641T	ENSP00000342667:A641T	A	-	1	0	RNF19A	101340556	1.000000	0.71417	0.084000	0.20598	0.800000	0.45204	2.623000	0.46435	0.778000	0.33520	0.585000	0.79938	GCC		0.478	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		124	506	0	0	0	1	0	124	506				
RAB3GAP1	22930	broad.mit.edu	37	2	135920351	135920351	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135920351T>C	ENST00000264158.8	+	21	2463	c.2420T>C	c.(2419-2421)aTc>aCc	p.I807T	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	807					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTTAAGAAGATCATAAAGCAG	0.323																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2419-2421)aTc>aCc		RAB3 GTPase activating protein subunit 1 (catalytic)							90.0	103.0	98.0					2																	135920351		2202	4300	6502	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135920351T>C	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2420T>C	2.37:g.135920351T>C	ENSP00000264158:p.Ile807Thr					RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR	p.I807T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	21	2463	+			807					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2420T>C	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	8.614	0.889897	0.17540	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46063	0.88;0.88;0.88	6.06	6.06	0.98353	.	0.199980	0.52532	D	0.000062	T	0.31827	0.0809	L	0.36672	1.1	0.80722	D	1	B;B	0.15719	0.014;0.003	B;B	0.08055	0.003;0.001	T	0.12451	-1.0547	10	0.22109	T	0.4	-21.2019	10.8727	0.46894	0.0:0.0697:0.0:0.9303	.	807;807	C9J837;Q15042	.;RB3GP_HUMAN	T	807;763;807	ENSP00000264158:I807T;ENSP00000444306:I763T;ENSP00000411418:I807T	ENSP00000264158:I807T	I	+	2	0	RAB3GAP1	135636821	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.094000	0.41719	2.324000	0.78689	0.533000	0.62120	ATC		0.323	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		124	303	0	0	0	1	0	124	303				
AOC1	26	broad.mit.edu	37	7	150554912	150554912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554912C>T	ENST00000493429.1	+	4	1938	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	AOC1_ENST00000360937.4_Silent_p.L452L|AOC1_ENST00000416793.2_Silent_p.L452L|AOC1_ENST00000467291.1_Silent_p.L452L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	452					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GGTGCTGGTGCTGCGGACAAC	0.512																																						ENST00000493429.1																			0											c.(1354-1356)Ctg>Ttg		amine oxidase, copper containing 1							66.0	72.0	70.0					7																	150554912		2033	4188	6221	SO:0001819	synonymous_variant	26							g.chr7:150554912C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1354C>T	7.37:g.150554912C>T						AOC1_ENST00000467291.1_Silent_p.L452L|AOC1_ENST00000360937.4_Silent_p.L452L|AOC1_ENST00000416793.2_Silent_p.L452L	p.L452L							4	1938	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.1354C>T	CCDS43679.1																																																																																				0.512	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		38	259	0	0	0	1	0	38	259				
CPT1B	1375	broad.mit.edu	37	22	51012062	51012062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012062G>A	ENST00000360719.2	-	10	1190	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Silent_p.G351G|CPT1B_ENST00000434492.2_Silent_p.G148G|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000395650.2_Silent_p.G351G|CPT1B_ENST00000405237.3_Silent_p.G351G|CPT1B_ENST00000312108.7_Silent_p.G351G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	351					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GCAGACGGGCGCCCTCATAGA	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1051-1053)ggC>ggT		carnitine palmitoyltransferase 1B (muscle)							42.0	41.0	41.0					22																	51012062		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51012062G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1053C>T	22.37:g.51012062G>A						CPT1B_ENST00000312108.7_Silent_p.G351G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000405237.3_Silent_p.G351G|CPT1B_ENST00000440709.1_Silent_p.G351G|CPT1B_ENST00000434492.2_Silent_p.G148G|CPT1B_ENST00000395650.2_Silent_p.G351G	p.G351G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	10	1190	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	351					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.1053C>T	CCDS14098.1																																																																																				0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		28	248	0	0	0	1	0	28	248				
ZFX	7543	broad.mit.edu	37	X	24190912	24190912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24190912C>T	ENST00000379177.1	+	5	480	c.53C>T	c.(52-54)gCa>gTa	p.A18V	ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000338565.3_Missense_Mutation_p.A18V|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	18					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTTTTGATGCAACAGGTATA	0.383																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(52-54)gCa>gTa		zinc finger protein, X-linked							182.0	144.0	157.0					X																	24190912		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24190912C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.53C>T	X.37:g.24190912C>T	ENSP00000368475:p.Ala18Val					ZFX_ENST00000338565.3_Missense_Mutation_p.A18V|ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron	p.A18V	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			5	480	+			18					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.53C>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261242	0.39995	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000419690;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.08807	3.2;3.2;3.2;3.05;3.21	5.23	4.37	0.52481	.	0.178042	0.37955	N	0.001867	T	0.06781	0.0173	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.34399	0.0;0.452;0.023;0.049	B;B;B;B	0.33454	0.001;0.164;0.029;0.039	T	0.31833	-0.9929	10	0.62326	D	0.03	-30.729	11.4795	0.50318	0.0:0.9143:0.0:0.0857	.	18;18;18;22	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	V	18	ENSP00000368486:A18V;ENSP00000368475:A18V;ENSP00000304985:A18V;ENSP00000441382:A18V;ENSP00000343384:A18V	ENSP00000304985:A18V	A	+	2	0	ZFX	24100833	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.357000	0.59436	1.090000	0.41315	0.600000	0.82982	GCA		0.383	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		46	217	0	0	0	1	0	46	217				
ALOX12B	242	broad.mit.edu	37	17	7976504	7976504	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7976504G>A	ENST00000319144.4	-	14	2148	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	630	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGAGCACCAGCAGCGTGATG	0.627										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1888-1890)Ctg>Ttg		arachidonate 12-lipoxygenase, 12R type							158.0	146.0	150.0					17																	7976504		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7976504G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1888C>T	17.37:g.7976504G>A		Multiple Myeloma(8;0.094)				ALOX12B_ENST00000577351.1_5'UTR	p.L630L	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			14	2148	-			630			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.1888C>T	CCDS11129.1																																																																																				0.627	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			194	806	0	0	0	1	0	194	806				
MUC21	394263	broad.mit.edu	37	6	30954944	30954944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30954944C>T	ENST00000376296.3	+	2	1233	c.992C>T	c.(991-993)aCc>aTc	p.T331I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	331	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACAGCCACCAACTCTGAG	0.617																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(991-993)aCc>aTc		mucin 21, cell surface associated							141.0	141.0	141.0					6																	30954944		2202	4297	6499	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954944C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.992C>T	6.37:g.30954944C>T	ENSP00000365473:p.Thr331Ile					MUC21_ENST00000486149.2_5'UTR	p.T331I	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1233	+			331			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.992C>T	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431182	0.25726	.	.	ENSG00000204544	ENST00000376296	T	0.03301	3.98	4.59	1.84	0.25277	.	.	.	.	.	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B	0.29432	0.244	B	0.23018	0.043	T	0.47749	-0.9093	8	.	.	.	1.8137	7.8785	0.29608	0.0:0.7225:0.0:0.2775	.	331	Q5SSG8	MUC21_HUMAN	I	331	ENSP00000365473:T331I	.	T	+	2	0	MUC21	31062923	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.202000	0.09451	0.272000	0.22027	-0.229000	0.12294	ACC		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		267	1275	0	0	0	1	0	267	1275				
ZNF41	7592	broad.mit.edu	37	X	47307946	47307946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307946T>G	ENST00000377065.4	-	5	1862	c.1223A>C	c.(1222-1224)gAg>gCg	p.E408A	ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATAGTGTTTCTCTCCGGTATG	0.418																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1222-1224)gAg>gCg		zinc finger protein 41							100.0	90.0	93.0					X																	47307946		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307946T>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1223A>C	X.37:g.47307946T>G	ENSP00000366265:p.Glu408Ala					ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A|ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A	p.E408A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1862	-		all_lung(315;0.000129)	450					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1223A>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885366	0.51908	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.27557	1.66;1.66;1.66	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35772	N	0.003000	T	0.51466	0.1676	M	0.73598	2.24	0.29448	N	0.858655	D;D;P;D;D	0.76494	0.999;0.999;0.46;0.999;0.999	D;D;B;D;D	0.77004	0.973;0.973;0.301;0.98;0.989	T	0.50651	-0.8803	10	0.87932	D	0	.	9.7253	0.40328	0.0:0.0:0.0:1.0	.	408;410;418;442;450	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	A	408;408;418	ENSP00000315173:E408A;ENSP00000366265:E408A;ENSP00000380243:E418A	ENSP00000315173:E408A	E	-	2	0	ZNF41	47192890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.118000	0.64673	1.652000	0.50683	0.481000	0.45027	GAG		0.418	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		128	423	0	0	0	1	0	128	423				
NCEH1	57552	broad.mit.edu	37	3	172365759	172365759	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365759A>C	ENST00000475381.1	-	2	517	c.284T>G	c.(283-285)tTt>tGt	p.F95C	NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C|NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	95					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGGGCCTTCAAACACTCTGAC	0.517																																						ENST00000475381.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(283-285)tTt>tGt		neutral cholesterol ester hydrolase 1							86.0	78.0	81.0					3																	172365759		2203	4300	6503	SO:0001583	missense	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172365759A>C	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.284T>G	3.37:g.172365759A>C	ENSP00000418571:p.Phe95Cys					NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C	p.F95C			Q6PIU2	NCEH1_HUMAN			2	517	-			95					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.284T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.12|18.12	3.553240|3.553240	0.65425|0.65425	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512|ENST00000424772	T;T;T|.	0.61158|.	0.13;0.13;0.13|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.095705|.	0.64402|.	D|.	0.000001|.	T|T	0.71953|0.71953	0.3401|0.3401	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.942|.	T|T	0.72364|0.72364	-0.4316|-0.4316	10|5	0.87932|.	D|.	0|.	-23.8409|-23.8409	12.1056|12.1056	0.53810|0.53810	0.8715:0.0:0.0:0.1285|0.8715:0.0:0.0:0.1285	.|.	127;95|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	C|V	95;127;127|118	ENSP00000418571:F95C;ENSP00000442464:F127C;ENSP00000273512:F127C|.	ENSP00000273512:F127C|.	F|L	-|-	2|1	0|2	NCEH1|NCEH1	173848453|173848453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.566000|0.566000	0.35808|0.35808	5.542000|5.542000	0.67218|0.67218	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.517	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		54	283	0	0	0	1	0	54	283				
FDX1	2230	broad.mit.edu	37	11	110327671	110327671	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110327671A>G	ENST00000260270.2	+	3	578	c.340A>G	c.(340-342)Acc>Gcc	p.T114A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	114	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GGCTTGTTCAACCTGTCACCT	0.438																																						ENST00000260270.2																			0				lung(2)	2						c.(340-342)Acc>Gcc		ferredoxin 1	Mitotane(DB00648)						327.0	271.0	290.0					11																	110327671		2201	4298	6499	SO:0001583	missense	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110327671A>G	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.340A>G	11.37:g.110327671A>G	ENSP00000260270:p.Thr114Ala						p.T114A	NM_004109.4	NP_004100.1	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	3	578	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	114			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Missense_Mutation	SNP	ENST00000260270.2	37	c.340A>G	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409904	0.83340	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	5.46	0.80206	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92310	0.5857	9	0.87932	D	0	.	15.2051	0.73173	1.0:0.0:0.0:0.0	.	114	P10109	ADX_HUMAN	A	114	.	ENSP00000260270:T114A	T	+	1	0	FDX1	109832881	1.000000	0.71417	0.868000	0.34077	0.741000	0.42261	7.136000	0.77285	2.075000	0.62263	0.459000	0.35465	ACC		0.438	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		205	892	0	0	0	1	0	205	892				
ERAL1	26284	broad.mit.edu	37	17	27185169	27185169	+	Missense_Mutation	SNP	A	A	G	rs139024598	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27185169A>G	ENST00000254928.5	+	5	639	c.542A>G	c.(541-543)cAc>cGc	p.H181R	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	181	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTCAGGCATCACCTGGAGCTC	0.478													A|||	5	0.000998403	0.0038	0.0	5008	,	,		22088	0.0		0.0	False		,,,				2504	0.0					ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(541-543)cAc>cGc		Era-like 12S mitochondrial rRNA chaperone 1		A	ARG/HIS	22,4384	29.0+/-57.7	0,22,2181	109.0	106.0	107.0		542	5.8	1.0	17	dbSNP_134	107	0,8600		0,0,4300	yes	missense	ERAL1	NM_005702.2	29	0,22,6481	GG,GA,AA		0.0,0.4993,0.1692	benign	181/438	27185169	22,12984	2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27185169A>G	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.542A>G	17.37:g.27185169A>G	ENSP00000254928:p.His181Arg					ERAL1_ENST00000578001.1_3'UTR	p.H181R	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		5	639	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		181			G.		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.542A>G	CCDS11244.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	12.25	1.880780	0.33255	0.004993	0.0	ENSG00000132591	ENST00000254928;ENST00000412138	D	0.95272	-3.66	5.8	5.8	0.92144	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.533866	0.24014	N	0.042344	D	0.83617	0.5293	N	0.11131	0.1	0.43267	D	0.99521	B	0.32128	0.357	B	0.34590	0.186	D	0.84150	0.0422	10	0.07325	T	0.83	-4.852	14.9742	0.71257	1.0:0.0:0.0:0.0	.	181	O75616	ERAL1_HUMAN	R	181;121	ENSP00000254928:H181R	ENSP00000254928:H181R	H	+	2	0	ERAL1	24209295	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	7.566000	0.82347	2.224000	0.72417	0.533000	0.62120	CAC		0.478	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			52	300	0	0	0	1	0	52	300				
SCUBE3	222663	broad.mit.edu	37	6	35210976	35210976	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35210976C>A	ENST00000274938.7	+	15	1872	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	SCUBE3_ENST00000394681.1_Silent_p.S640S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGATGGAGTCCTGTAGGCCCG	0.632																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(1870-1872)tcC>tcA		signal peptide, CUB domain, EGF-like 3							40.0	49.0	46.0					6																	35210976		2203	4300	6503	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35210976C>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1872C>A	6.37:g.35210976C>A						SCUBE3_ENST00000394681.1_Silent_p.S640S	p.S624S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			15	1872	+			624						Silent	SNP	ENST00000274938.7	37	c.1872C>A	CCDS4800.1																																																																																				0.632	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		77	296	1	0	2.51111e-31	1	2.95558e-31	77	296				
DNAH9	1770	broad.mit.edu	37	17	11845625	11845625	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11845625G>A	ENST00000262442.4	+	67	12734	c.12666G>A	c.(12664-12666)aaG>aaA	p.K4222K	DNAH9_ENST00000608377.1_Silent_p.K534K|DNAH9_ENST00000454412.2_Silent_p.K4146K|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4222					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCAGGTCAAGGCACTTCTGG	0.498																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12664-12666)aaG>aaA		dynein, axonemal, heavy chain 9							164.0	158.0	160.0					17																	11845625		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11845625G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12666G>A	17.37:g.11845625G>A						DNAH9_ENST00000454412.2_Silent_p.K4146K|DNAH9_ENST00000396001.2_Silent_p.K534K	p.K4222K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	67	12734	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4222					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.12666G>A	CCDS11160.1																																																																																				0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		146	759	0	0	0	1	0	146	759				
ATXN7L3	56970	broad.mit.edu	37	17	42273420	42273420	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273420A>G	ENST00000454077.2	-	6	525	c.526T>C	c.(526-528)Tca>Cca	p.S176P	ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.S169P	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTTTTAATGACTTGGATCTT	0.537																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(505-507)Tca>Cca		ataxin 7-like 3							93.0	90.0	91.0					17																	42273420		1856	4094	5950	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42273420A>G	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.526T>C	17.37:g.42273420A>G	ENSP00000397259:p.Ser176Pro					ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S176P	p.S169P	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	813	-		Breast(137;0.00765)|Prostate(33;0.0181)	169						Missense_Mutation	SNP	ENST00000454077.2	37	c.505T>C	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595838	0.66332	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	.	0.064498	0.64402	D	0.000005	T	0.58177	0.2104	L	0.36672	1.1	0.58432	D	0.999994	B;D	0.54964	0.005;0.969	B;P	0.52424	0.006;0.698	T	0.59490	-0.7445	9	0.45353	T	0.12	.	13.6304	0.62191	1.0:0.0:0.0:0.0	.	169;176	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	P	176;169	.	ENSP00000374035:S169P	S	-	1	0	ATXN7L3	39628946	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.799000	0.75160	1.858000	0.53909	0.454000	0.30748	TCA		0.537	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			54	300	0	0	0	1	0	54	300				
COL4A4	1286	broad.mit.edu	37	2	227963476	227963476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227963476C>A	ENST00000396625.3	-	19	1345	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	380	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCCTGTTTCTCCATAGCGG	0.527																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1138-1140)Gaa>Taa		collagen, type IV, alpha 4							47.0	48.0	48.0					2																	227963476		1882	4107	5989	SO:0001587	stop_gained	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227963476C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1138G>T	2.37:g.227963476C>A	ENSP00000379866:p.Glu380*					COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	p.E380*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	19	1345	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	380			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	37	c.1138G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	38	7.188080	0.98121	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.3395	0.74284	0.0:1.0:0.0:0.0	.	.	.	.	X	380	.	ENSP00000328553:E380X	E	-	1	0	COL4A4	227671720	1.000000	0.71417	0.988000	0.46212	0.461000	0.32589	4.035000	0.57297	2.701000	0.92244	0.591000	0.81541	GAA		0.527	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		23	313	1	0	1.96895e-08	1	2.05624e-08	23	313				
CUL7	9820	broad.mit.edu	37	6	43006154	43006154	+	Missense_Mutation	SNP	G	G	A	rs202082916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006154G>A	ENST00000265348.3	-	25	4709	c.4624C>T	c.(4624-4626)Cgg>Tgg	p.R1542W	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.R1626W			Q14999	CUL7_HUMAN	cullin 7	1542					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGATGAGCCGCACAATGTCC	0.542																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(4876-4878)Cgg>Tgg		cullin 7		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	119.0	104.0	109.0		4876,4624	2.8	1.0	6		109	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CUL7	NM_001168370.1,NM_014780.4	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	1626/1783,1542/1699	43006154	2,13004	2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006154G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4624C>T	6.37:g.43006154G>A	ENSP00000265348:p.Arg1542Trp					CUL7_ENST00000265348.3_Missense_Mutation_p.R1542W	p.R1626W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		25	4962	-			1542					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4876C>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284334	0.23392	0.0	2.33E-4	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79554	-1.28;-1.28	5.18	2.85	0.33270	Cullin homology (1);	0.596147	0.19181	N	0.120665	T	0.23688	0.0573	N	0.01048	-1.04	0.30040	N	0.812671	B;B;B;B	0.11235	0.001;0.004;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.14254	-1.0479	10	0.16420	T	0.52	-8.6898	3.0282	0.06098	0.5254:0.0:0.2822:0.1924	.	1626;1542;1626;1542	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	W	1542;1626	ENSP00000265348:R1542W;ENSP00000438788:R1626W	ENSP00000265348:R1542W	R	-	1	2	CUL7	43114132	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.931000	0.28871	0.819000	0.34492	-0.302000	0.09304	CGG		0.542	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		70	283	0	0	0	1	0	70	283				
THAP10	56906	broad.mit.edu	37	15	71174954	71174954	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71174954G>A	ENST00000249861.4	-	3	1125	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	205							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L205M(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATTACACAGTCTTTTTCCA	0.363																																						ENST00000249861.4																			1	Substitution - Missense(1)	p.L205M(1)	kidney(1)	NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(613-615)Ctg>Ttg		THAP domain containing 10							121.0	116.0	118.0					15																	71174954		2199	4297	6496	SO:0001819	synonymous_variant	56906						DNA binding|metal ion binding	g.chr15:71174954G>A	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.613C>T	15.37:g.71174954G>A						LRRC49_ENST00000544974.2_Intron	p.L205L	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN			3	1125	-			205					B2R8R0	Silent	SNP	ENST00000249861.4	37	c.613C>T	CCDS10237.1																																																																																				0.363	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		80	281	0	0	0	1	0	80	281				
ABL2	27	broad.mit.edu	37	1	179078040	179078040	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179078040A>T	ENST00000502732.1	-	12	2565	c.2362T>A	c.(2362-2364)Tcc>Acc	p.S788T	ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000507173.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	788	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCCCTGAGGACATGGAAGAT	0.507			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(2362-2364)Tcc>Acc		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						135.0	125.0	128.0					1																	179078040		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078040A>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2362T>A	1.37:g.179078040A>T	ENSP00000427562:p.Ser788Thr					ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron	p.S788T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	2565	-			788			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.2362T>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473385	0.43942	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000512653;ENST00000367623	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.79	5.79	0.91817	.	0.000000	0.46145	D	0.000319	T	0.13030	0.0316	L	0.27053	0.805	0.53688	D	0.999976	P;P;P;B	0.49559	0.925;0.653;0.925;0.397	P;B;P;B	0.47162	0.54;0.328;0.54;0.155	T	0.01352	-1.1377	10	0.72032	D	0.01	.	15.3166	0.74085	1.0:0.0:0.0:0.0	.	767;788;773;752	P42684-6;P42684;P42684-3;D1MPS6	.;ABL2_HUMAN;.;.	T	788;752;773;767	ENSP00000427562:S788T;ENSP00000386152:S752T;ENSP00000423578:S773T;ENSP00000356595:S767T	ENSP00000356595:S767T	S	-	1	0	ABL2	177344663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.024000	0.70857	2.207000	0.71202	0.533000	0.62120	TCC		0.507	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		157	476	0	0	0	1	0	157	476				
GHDC	84514	broad.mit.edu	37	17	40344543	40344543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344543G>A	ENST00000301671.8	-	4	1046	c.605C>T	c.(604-606)aCg>aTg	p.T202M	GHDC_ENST00000436923.2_Missense_Mutation_p.T202M|GHDC_ENST00000587427.1_Missense_Mutation_p.T202M|GHDC_ENST00000593209.1_Missense_Mutation_p.T202M|GHDC_ENST00000414034.3_Missense_Mutation_p.T202M|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000428494.2_Missense_Mutation_p.T163M			Q8N2G8	GHDC_HUMAN	GH3 domain containing	202						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T202M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TTCGACAGCCGTCCCAGCCTC	0.637																																						ENST00000301671.8																			1	Substitution - Missense(1)	p.T202M(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(604-606)aCg>aTg		GH3 domain containing							65.0	74.0	71.0					17																	40344543		2201	4295	6496	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344543G>A	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.605C>T	17.37:g.40344543G>A	ENSP00000301671:p.Thr202Met					GHDC_ENST00000436923.2_Missense_Mutation_p.T202M|GHDC_ENST00000587427.1_Missense_Mutation_p.T202M|GHDC_ENST00000428494.2_Missense_Mutation_p.T163M|GHDC_ENST00000593209.1_Missense_Mutation_p.T202M|GHDC_ENST00000414034.3_Missense_Mutation_p.T202M	p.T202M			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	4	1046	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	202					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.605C>T	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895760	0.33442	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.52	4.52	0.55395	.	0.219913	0.32258	N	0.006350	T	0.64450	0.2599	M	0.63428	1.95	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.977;0.995	T	0.57165	-0.7858	9	0.54805	T	0.06	-8.2865	14.0975	0.65032	0.0:0.0:1.0:0.0	.	163;202;202	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	M	146;163;202;202;202	.	ENSP00000301671:T202M	T	-	2	0	GHDC	37598069	0.801000	0.28930	0.454000	0.27019	0.279000	0.26890	1.473000	0.35387	2.352000	0.79861	0.561000	0.74099	ACG		0.637	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		16	923	0	0	0	1	0	16	923				
KIDINS220	57498	broad.mit.edu	37	2	8926424	8926424	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926424C>T	ENST00000256707.3	-	16	2032	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	617	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGTTGCAATCATTTCAGCCA	0.383																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1849-1851)atG>atA		kinase D-interacting substrate, 220kDa							162.0	153.0	156.0					2																	8926424		1846	4087	5933	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8926424C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1851G>A	2.37:g.8926424C>T	ENSP00000256707:p.Met617Ile					KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I	p.M617I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			16	2032	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		617			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.1851G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834841	0.91036	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.07	6.07	0.98685	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.76494	0.969;0.999;0.979;0.983	D;D;D;D	0.91635	0.968;0.999;0.986;0.992	T	0.22277	-1.0221	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	618;618;575;617	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	I	364;301;617;617;575;617;618;618	ENSP00000420364:M364I;ENSP00000256707:M617I;ENSP00000411849:M617I;ENSP00000414923:M575I;ENSP00000418974:M617I;ENSP00000419964:M618I;ENSP00000319947:M618I	ENSP00000256707:M617I	M	-	3	0	KIDINS220	8843875	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.885000	0.99019	0.655000	0.94253	ATG		0.383	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		68	885	0	0	0	1	0	68	885				
NDP	4693	broad.mit.edu	37	X	43817734	43817734	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:43817734T>C	ENST00000378062.5	-	2	565	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	53	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						GCTACACTTGTACAATGGGTG	0.473																																						ENST00000378062.5																			0				kidney(1)|lung(2)	3						c.(157-159)tAc>tGc		Norrie disease (pseudoglioma)							178.0	136.0	151.0					X																	43817734		2203	4300	6503	SO:0001583	missense	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43817734T>C	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.158A>G	X.37:g.43817734T>C	ENSP00000367301:p.Tyr53Cys					NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	p.Y53C	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN			2	565	-			53			CTCK.		B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	37	c.158A>G	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700482	0.68501	.	.	ENSG00000124479	ENST00000378062	D	0.90676	-2.71	5.98	5.98	0.97165	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.92428	0.5951	10	0.72032	D	0.01	-29.3628	15.3225	0.74132	0.0:0.0:0.0:1.0	.	53	Q00604	NDP_HUMAN	C	53	ENSP00000367301:Y53C	ENSP00000367301:Y53C	Y	-	2	0	NDP	43702678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.263000	0.78421	2.002000	0.58637	0.486000	0.48141	TAC		0.473	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		95	339	0	0	0	1	0	95	339				
PCDH11X	27328	broad.mit.edu	37	X	91873534	91873534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91873534G>A	ENST00000373094.1	+	7	4484	c.3639G>A	c.(3637-3639)ccG>ccA	p.P1213P	PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.P1205P|PCDH11X_ENST00000298274.8_Silent_p.P1176P|PCDH11X_ENST00000373097.1_Silent_p.P1203P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1213					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCCACCACCGATACAGGTGT	0.597																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3637-3639)ccG>ccA		protocadherin 11 X-linked							170.0	135.0	146.0					X																	91873534		2203	4298	6501	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873534G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3639G>A	X.37:g.91873534G>A						PCDH11X_ENST00000373097.1_Silent_p.P1203P|PCDH11X_ENST00000298274.8_Silent_p.P1176P|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000406881.1_Silent_p.P1205P|PCDH11X_ENST00000504220.1_3'UTR	p.P1213P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4484	+			1213					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3639G>A	CCDS14461.1																																																																																				0.597	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		150	487	0	0	0	1	0	150	487				
BAI2	576	broad.mit.edu	37	1	32198193	32198193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32198193G>A	ENST00000373658.3	-	27	3986	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000398538.1_Silent_p.C1203C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000373655.2_Silent_p.C1215C|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1215					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCCCCATCTGGCACTTCACCA	0.657																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(3643-3645)tgC>tgT		brain-specific angiogenesis inhibitor 2							50.0	44.0	46.0					1																	32198193		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32198193G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3645C>T	1.37:g.32198193G>A						BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000373655.2_Silent_p.C1215C|BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000398538.1_Silent_p.C1203C	p.C1215C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	27	3986	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1215					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.3645C>T	CCDS346.2																																																																																				0.657	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		11	130	0	0	0	1	0	11	130				
TTN	7273	broad.mit.edu	37	2	179615383	179615383	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179615383C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R3915Q			Q8WZ42	TITIN_HUMAN	titin						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)			TTCATCAATTCGTGTAGAAGC	0.338																																						ENST00000360870.5																			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.(11743-11745)cGa>cAa		titin							57.0	59.0	58.0					2																	179615383		2201	4297	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615383C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2467G>A	2.37:g.179615383C>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.R3915Q	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11966	-			9735					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.11744G>A		.	.	.	.	.	.	.	.	.	.	T	10.49	1.365779	0.24684	.	.	ENSG00000155657	ENST00000360870	T	0.56776	0.44	5.55	4.35	0.52113	.	.	.	.	.	T	0.26738	0.0654	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.26326	-1.0106	9	0.13108	T	0.6	.	4.4553	0.11640	0.141:0.1711:0.0:0.6879	.	3915	Q8WZ42-6	.	Q	3915	ENSP00000354117:R3915Q	ENSP00000354117:R3915Q	R	-	2	0	TTN	179323628	0.022000	0.18835	0.001000	0.08648	0.028000	0.11728	2.154000	0.42291	0.434000	0.26340	-0.254000	0.11334	CGA		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	171	0	0	0	1	0	33	171				
BDH2	56898	broad.mit.edu	37	4	104003289	104003289	+	Silent	SNP	G	G	A	rs181237399		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104003289G>A	ENST00000296424.4	-	9	753	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	211					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.F211F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CTGCAGTTGCGAATCTTCCCG	0.463																																						ENST00000296424.4																			1	Substitution - coding silent(1)	p.F211F(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(631-633)ttC>ttT		3-hydroxybutyrate dehydrogenase, type 2		G		1,4405	2.1+/-5.4	0,1,2202	142.0	124.0	130.0		633	1.1	1.0	4		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BDH2	NM_020139.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		211/246	104003289	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104003289G>A	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.633C>T	4.37:g.104003289G>A							p.F211F	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	9	753	-		Hepatocellular(203;0.217)	211					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP	ENST00000296424.4	37	c.633C>T	CCDS3663.1																																																																																				0.463	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		38	168	0	0	0	1	0	38	168				
B4GALNT4	338707	broad.mit.edu	37	11	373509	373509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373509C>T	ENST00000329962.6	+	7	697	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	233					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTCCAAGCCCAGGCGGTG	0.622																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(697-699)Ccc>Tcc		beta-1,4-N-acetyl-galactosaminyl transferase 4							85.0	90.0	89.0					11																	373509		2196	4298	6494	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373509C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.697C>T	11.37:g.373509C>T	ENSP00000328277:p.Pro233Ser						p.P233S	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	697	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	233					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.697C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.166235	0.57476	.	.	ENSG00000182272	ENST00000329962	T	0.21361	2.01	4.23	4.23	0.50019	PA14 (2);	0.320979	0.28901	N	0.013763	T	0.30166	0.0756	L	0.48877	1.53	0.44352	D	0.997242	D	0.52996	0.957	P	0.50490	0.642	T	0.07309	-1.0779	10	0.56958	D	0.05	-25.8667	17.1578	0.86796	0.0:1.0:0.0:0.0	.	233	Q76KP1	B4GN4_HUMAN	S	233	ENSP00000328277:P233S	ENSP00000328277:P233S	P	+	1	0	B4GALNT4	363509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.864000	0.39469	2.337000	0.79520	0.462000	0.41574	CCC		0.622	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		63	458	0	0	0	1	0	63	458				
SMTN	6525	broad.mit.edu	37	22	31483985	31483985	+	Missense_Mutation	SNP	G	G	A	rs145193216	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31483985G>A	ENST00000347557.2	+	3	304	c.86G>A	c.(85-87)cGc>cAc	p.R29H	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.R29H|SMTN_ENST00000333137.7_Missense_Mutation_p.R29H	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	29					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GAGCGGCGGCGCATCCGCTCA	0.677																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(85-87)cGc>cAc		smoothelin							21.0	23.0	22.0					22																	31483985		2192	4282	6474	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31483985G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.86G>A	22.37:g.31483985G>A	ENSP00000328635:p.Arg29His					SMTN_ENST00000347557.2_Missense_Mutation_p.R29H|SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.R29H	p.R29H	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			3	304	+			29					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.86G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190406	0.58017	.	.	ENSG00000183963	ENST00000432777;ENST00000422839;ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.8	3.78	0.43462	.	0.000000	0.35970	N	0.002864	T	0.32645	0.0836	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.23185	0.081;0.081;0.047;0.047;0.047;0.038	B;B;B;B;B;B	0.20384	0.029;0.029;0.029;0.029;0.029;0.017	T	0.18178	-1.0345	10	0.87932	D	0	-7.7084	9.594	0.39563	0.1598:0.0:0.8402:0.0	.	85;83;21;29;29;29	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	H	83;29;83;83;29;29;29;29;21;21	ENSP00000398663:R83H;ENSP00000390453:R29H;ENSP00000399432:R83H;ENSP00000401341:R83H;ENSP00000351593:R29H;ENSP00000328635:R29H;ENSP00000329532:R29H;ENSP00000394637:R21H	ENSP00000329393:R29H	R	+	2	0	SMTN	29813985	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	1.173000	0.42796	0.650000	0.86243	CGC		0.677	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		40	146	0	0	0	1	0	40	146				
ZMYM3	9203	broad.mit.edu	37	X	70471421	70471421	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70471421T>G	ENST00000353904.2	-	3	885	c.698A>C	c.(697-699)aAg>aCg	p.K233T	ZMYM3_ENST00000373998.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K233T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	233					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTCAGGCGGCTTCTCACTCGC	0.597																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(697-699)aAg>aCg		zinc finger, MYM-type 3							54.0	32.0	39.0					X																	70471421		2199	4294	6493	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471421T>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.698A>C	X.37:g.70471421T>G	ENSP00000343909:p.Lys233Thr					ZMYM3_ENST00000353904.2_Missense_Mutation_p.K233T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T	p.K233T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			3	1395	-	Renal(35;0.156)		233					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.698A>C	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	11.37	1.618980	0.28801	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.47177	1.45;0.87;1.45;1.43;1.43;0.85;0.85	4.3	1.71	0.24356	.	1.156830	0.06391	N	0.717056	T	0.27278	0.0669	N	0.19112	0.55	0.24063	N	0.996006	B;B;B	0.29716	0.255;0.065;0.039	B;B;B	0.26614	0.071;0.02;0.009	T	0.22034	-1.0228	10	0.19590	T	0.45	-11.5712	2.1559	0.03811	0.1405:0.0922:0.2733:0.4939	.	233;233;233	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	T	233	ENSP00000322845:K233T;ENSP00000363110:K233T;ENSP00000343909:K233T;ENSP00000363096:K233T;ENSP00000363100:K233T;ENSP00000363094:K233T;ENSP00000363093:K233T	ENSP00000322845:K233T	K	-	2	0	ZMYM3	70388146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.613000	0.36900	0.541000	0.28827	0.347000	0.21830	AAG		0.597	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	25	0	0	0	1	0	6	25				
HMCN1	83872	broad.mit.edu	37	1	186039890	186039890	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186039890G>A	ENST00000271588.4	+	52	8368		c.e52+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGATGGACAGGCCAGTCACAA	0.378																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e52+1		hemicentin 1							111.0	105.0	107.0					1																	186039890		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186039890G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8139+1G>A	1.37:g.186039890G>A						HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			52	8368	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198072	0.94997	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184306513	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.566000	0.98157	2.687000	0.91594	0.655000	0.94253	.		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	21	459	0	0	0	1	0	21	459				
CYLC2	1539	broad.mit.edu	37	9	105767015	105767015	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:105767015A>C	ENST00000374798.3	+	4	289	c.219A>C	c.(217-219)caA>caC	p.Q73H	CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	73	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATCGTAGACAACCATTATGGA	0.373																																						ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(217-219)caA>caC		cylicin, basic protein of sperm head cytoskeleton 2							84.0	81.0	82.0					9																	105767015		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767015A>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.219A>C	9.37:g.105767015A>C	ENSP00000420256:p.Gln73His					CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	p.Q73H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			4	289	+		all_hematologic(171;0.125)	73			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.219A>C	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868610	0.32977	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14516	2.5;2.5	4.38	3.24	0.37175	.	1.048800	0.07642	N	0.930445	T	0.17323	0.0416	N	0.22421	0.69	0.23421	N	0.997713	D	0.62365	0.991	P	0.56088	0.791	T	0.23368	-1.0190	10	0.44086	T	0.13	-2.8804	6.5659	0.22511	0.8906:0.0:0.1094:0.0	.	73	Q14093	CYLC2_HUMAN	H	73	ENSP00000420256:Q73H;ENSP00000417674:Q73H	ENSP00000420256:Q73H	Q	+	3	2	CYLC2	104806836	0.079000	0.21365	0.679000	0.29978	0.248000	0.25809	0.671000	0.25172	0.838000	0.34948	0.482000	0.46254	CAA		0.373	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		18	138	0	0	0	1	0	18	138				
CYP39A1	51302	broad.mit.edu	37	6	46610004	46610004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46610004C>T	ENST00000275016.2	-	2	412	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	70					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CATTCGGTTTCCCATAGCAAA	0.318																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(208-210)gGa>gAa		cytochrome P450, family 39, subfamily A, polypeptide 1							63.0	63.0	63.0					6																	46610004		2202	4297	6499	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46610004C>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.209G>A	6.37:g.46610004C>T	ENSP00000275016:p.Gly70Glu						p.G70E	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			2	412	-			70					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.209G>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846263	0.71603	.	.	ENSG00000146233	ENST00000275016	T	0.68479	-0.33	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81680	-0.0823	10	0.87932	D	0	-15.2661	17.2743	0.87111	0.0:1.0:0.0:0.0	.	70;70	B7Z786;Q9NYL5	.;CP39A_HUMAN	E	70	ENSP00000275016:G70E	ENSP00000275016:G70E	G	-	2	0	CYP39A1	46717963	1.000000	0.71417	0.439000	0.26833	0.789000	0.44602	5.604000	0.67626	2.436000	0.82500	0.563000	0.77884	GGA		0.318	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			30	172	0	0	0	1	0	30	172				
ELL	8178	broad.mit.edu	37	19	18556055	18556055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18556055C>A	ENST00000262809.4	-	11	1799	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	CTD-3137H5.1_ENST00000594590.2_RNA|ELL_ENST00000596124.3_Missense_Mutation_p.Q443H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	576					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TTCGATATTCCTGCAAAATCT	0.512			T	MLL	AL																																	ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(1726-1728)caG>caT		elongation factor RNA polymerase II							199.0	209.0	206.0					19																	18556055		2203	4300	6503	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18556055C>A	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1728G>T	19.37:g.18556055C>A	ENSP00000262809:p.Gln576His						p.Q576H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	11	1799	-			576						Missense_Mutation	SNP	ENST00000262809.4	37	c.1728G>T	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709318	0.48517	.	.	ENSG00000105656	ENST00000262809	T	0.22945	1.93	3.79	2.74	0.32292	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.154328	0.44285	U	0.000462	T	0.44244	0.1284	M	0.65498	2.005	0.45946	D	0.998776	D;D	0.76494	0.997;0.999	D;D	0.72982	0.968;0.979	T	0.37572	-0.9700	10	0.72032	D	0.01	-23.2441	9.261	0.37612	0.0:0.8105:0.0:0.1895	.	520;576	Q59HG4;P55199	.;ELL_HUMAN	H	576	ENSP00000262809:Q576H	ENSP00000262809:Q576H	Q	-	3	2	ELL	18417055	1.000000	0.71417	0.983000	0.44433	0.783000	0.44284	0.592000	0.23984	0.952000	0.37798	0.282000	0.19409	CAG		0.512	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		290	1378	1	0	1.25801e-74	1	1.60312e-74	290	1378				
PYGO2	90780	broad.mit.edu	37	1	154932251	154932251	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932251G>A	ENST00000368457.2	-	3	396	c.225C>T	c.(223-225)tcC>tcT	p.S75S	RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Silent_p.S38S	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	75	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAAGGGTTGGATGCAACCA	0.582																																					NSCLC(87;357 1460 1955 21029 23522)	ENST00000368457.2																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10						c.(223-225)tcC>tcT		pygopus family PHD finger 2							38.0	41.0	40.0					1																	154932251		2203	4300	6503	SO:0001819	synonymous_variant	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154932251G>A	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.225C>T	1.37:g.154932251G>A						PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Silent_p.S38S	p.S75S	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	396	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		75			Pro-rich.		Q8WYZ4|Q96CY2	Silent	SNP	ENST00000368457.2	37	c.225C>T	CCDS1075.1																																																																																				0.582	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		47	117	0	0	0	1	0	47	117				
PLD5	200150	broad.mit.edu	37	1	242428680	242428680	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242428680A>G	ENST00000536534.2	-	4	807	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000442594.2_Missense_Mutation_p.V97A|PLD5_ENST00000427495.1_Missense_Mutation_p.V127A			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	189						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATCAGCTGTTACATCACTCAC	0.368																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(289-291)gTa>gCa		phospholipase D family, member 5							63.0	61.0	62.0					1																	242428680		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242428680A>G	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.566T>C	1.37:g.242428680A>G	ENSP00000440896:p.Val189Ala					PLD5_ENST00000427495.1_Missense_Mutation_p.V127A|PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000536534.1_Missense_Mutation_p.V189A	p.V97A	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	799	-	Melanoma(84;0.242)		189					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.290T>C	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960991	0.34565	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.43294	2.64;2.64;2.64;0.95	5.55	4.41	0.53225	.	0.270757	0.30762	N	0.008930	T	0.21022	0.0506	N	0.13003	0.285	0.28108	N	0.931111	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.003	T	0.16100	-1.0414	10	0.06494	T	0.89	-19.09	9.713	0.40256	0.9161:0.0:0.0839:0.0	.	97;189;127	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	A	127;97;189;127	ENSP00000401285:V127A;ENSP00000414188:V97A;ENSP00000440896:V189A;ENSP00000438191:V127A	ENSP00000401285:V127A	V	-	2	0	PLD5	240495303	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.031000	0.49728	2.234000	0.73211	0.533000	0.62120	GTA		0.368	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		29	186	0	0	0	1	0	29	186				
HSP90AB2P	391634	broad.mit.edu	37	4	13339112	13339112	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13339112T>G	ENST00000602906.1	+	0	862							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						TCATTCCTCCTTAGGCTCCCT	0.423																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13339112T>G	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339112T>G														0	862	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.423	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			85	312	0	0	0	1	0	85	312				
NR2F6	2063	broad.mit.edu	37	19	17343433	17343433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17343433C>T	ENST00000291442.3	-	4	1662	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	315	Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGGCCACAGGCGTCTAGGGGG	0.642																																						ENST00000291442.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						c.(943-945)Gcc>Acc		nuclear receptor subfamily 2, group F, member 6							19.0	21.0	20.0					19																	17343433		2203	4297	6500	SO:0001583	missense	2063				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr19:17343433C>T	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.943G>A	19.37:g.17343433C>T	ENSP00000291442:p.Ala315Thr						p.A315T	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN			4	1662	-			315			Ligand-binding (By similarity).		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	ENST00000291442.3	37	c.943G>A	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681882	0.68042	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	T	0.51817	0.69	4.71	4.71	0.59529	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	U	0.000000	T	0.58018	0.2093	L	0.35593	1.075	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60596	-0.7232	10	0.54805	T	0.06	.	15.175	0.72903	0.0:1.0:0.0:0.0	.	315	P10588	NR2F6_HUMAN	T	315;288	ENSP00000291442:A315T	ENSP00000291442:A315T	A	-	1	0	NR2F6	17204433	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.943000	0.70211	2.168000	0.68352	0.555000	0.69702	GCC		0.642	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			29	129	0	0	0	1	0	29	129				
RPAP3	79657	broad.mit.edu	37	12	48075569	48075569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48075569C>T	ENST00000005386.3	-	10	1139	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T|RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	342										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AATAAAATGGCTTGTGTGCAG	0.338																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1024-1026)Gcc>Acc		RNA polymerase II associated protein 3							91.0	83.0	86.0					12																	48075569		2203	4299	6502	SO:0001583	missense	79657						binding	g.chr12:48075569C>T	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1024G>A	12.37:g.48075569C>T	ENSP00000005386:p.Ala342Thr					RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T|RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T	p.A342T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			10	1139	-	Lung SC(27;0.192)		342					B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	c.1024G>A	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226288	0.95173	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.74002	-0.8;-0.8;-0.8	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.104094	0.64402	D	0.000003	D	0.89441	0.6716	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.91390	0.5134	10	0.87932	D	0	.	18.4725	0.90779	0.0:1.0:0.0:0.0	.	342;342	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	T	342;183;342	ENSP00000005386:A342T;ENSP00000401823:A183T;ENSP00000370024:A342T	ENSP00000005386:A342T	A	-	1	0	RPAP3	46361836	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	7.239000	0.78182	2.689000	0.91719	0.460000	0.39030	GCC		0.338	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		41	205	0	0	0	1	0	41	205				
NDEL1	81565	broad.mit.edu	37	17	8358148	8358148	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8358148T>C	ENST00000334527.7	+	7	932	c.735T>C	c.(733-735)acT>acC	p.T245T	NDEL1_ENST00000380025.4_Silent_p.T245T|NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000402554.3_Silent_p.T245T|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	245	Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1. {ECO:0000250}.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						GTCCACTAACTCCCTCTGCTA	0.403																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(733-735)acT>acC		nudE neurodevelopment protein 1-like 1							240.0	239.0	239.0					17																	8358148		2203	4300	6503	SO:0001819	synonymous_variant	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8358148T>C	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.735T>C	17.37:g.8358148T>C						NDEL1_ENST00000380025.4_Silent_p.T245T|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000402554.3_Silent_p.T245T	p.T245T	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			7	932	+			245			Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	37	c.735T>C	CCDS11143.1																																																																																				0.403	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		196	889	0	0	0	1	0	196	889				
NKAPL	222698	broad.mit.edu	37	6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(397-399)gCg>gTg		NFKB activating protein-like							99.0	106.0	104.0					6																	28227547		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227547C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.398C>T	6.37:g.28227547C>T	ENSP00000345716:p.Ala133Val						p.A133V	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	450	+			133					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.398C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873503	0.33069	.	.	ENSG00000189134	ENST00000343684	T	0.11930	2.73	5.1	4.23	0.50019	.	0.110110	0.64402	D	0.000008	T	0.04861	0.0131	M	0.79475	2.455	0.09310	N	1	P	0.48998	0.918	B	0.33799	0.17	T	0.31052	-0.9957	10	0.15066	T	0.55	-12.5193	9.4232	0.38563	0.0:0.9047:0.0:0.0953	.	133	Q5M9Q1	NKAPL_HUMAN	V	133	ENSP00000345716:A133V	ENSP00000345716:A133V	A	+	2	0	NKAPL	28335526	0.971000	0.33674	0.007000	0.13788	0.809000	0.45718	2.535000	0.45685	1.530000	0.49136	0.655000	0.94253	GCG		0.537	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			100	653	0	0	0	1	0	100	653				
PKD1L2	114780	broad.mit.edu	37	16	81198334	81198334	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81198334T>G	ENST00000525539.1	-	0	3259				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						GTCTGCGGCATCAGGGCGCAG	0.597																																						ENST00000525539.1																			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							53.0	62.0	59.0					16																	81198334		2168	4273	6441			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81198334T>G	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.81198334T>G						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	3259	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.597	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			94	271	0	0	0	1	0	94	271				
PCDHB14	56122	broad.mit.edu	37	5	140603489	140603489	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603489A>C	ENST00000239449.4	+	1	412	c.412A>C	c.(412-414)Ata>Cta	p.I138L	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	138	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACAAGGAAATACTTATTAA	0.393																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(412-414)Ata>Cta									67.0	73.0	71.0					5																	140603489		2198	4300	6498	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603489A>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.412A>C	5.37:g.140603489A>C	ENSP00000239449:p.Ile138Leu					PCDHB14_ENST00000515856.2_5'UTR	p.I138L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	412	+			138			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.412A>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.54	2.863918	0.51482	.	.	ENSG00000120327	ENST00000239449	T	0.19532	2.14	4.92	3.73	0.42828	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.15089	0.0364	L	0.51422	1.61	0.48830	D	0.999719	B	0.13145	0.007	B	0.12837	0.008	T	0.10451	-1.0629	9	0.15952	T	0.53	.	3.0982	0.06317	0.6325:0.1471:0.0792:0.1412	.	138	Q9Y5E9	PCDBE_HUMAN	L	138	ENSP00000239449:I138L	ENSP00000239449:I138L	I	+	1	0	PCDHB14	140583673	0.000000	0.05858	0.977000	0.42913	0.996000	0.88848	-0.073000	0.11468	0.797000	0.33971	0.528000	0.53228	ATA		0.393	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		134	523	0	0	0	1	0	134	523				
GPR125	166647	broad.mit.edu	37	4	22414813	22414813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414813C>T	ENST00000334304.5	-	14	2493	c.2224G>A	c.(2224-2226)Gtt>Att	p.V742I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	742	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACCATTAAAACTGCATAGTTA	0.353																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2224-2226)Gtt>Att		G protein-coupled receptor 125							173.0	172.0	172.0					4																	22414813		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414813C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2224G>A	4.37:g.22414813C>T	ENSP00000334952:p.Val742Ile					GPR125_ENST00000282943.5_5'UTR	p.V742I	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2493	-		Breast(46;0.198)	742			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2224G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258243	0.39896	.	.	ENSG00000152990	ENST00000334304	T	0.69435	-0.4	5.49	5.49	0.81192	GPS domain (3);	0.130085	0.52532	D	0.000075	T	0.70124	0.3188	L	0.41492	1.28	0.80722	D	1	P;D	0.57899	0.686;0.981	B;P	0.54499	0.28;0.754	T	0.64782	-0.6326	10	0.22109	T	0.4	-30.6269	19.3671	0.94468	0.0:1.0:0.0:0.0	.	599;742	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	I	742	ENSP00000334952:V742I	ENSP00000334952:V742I	V	-	1	0	GPR125	22023911	0.971000	0.33674	0.850000	0.33497	0.712000	0.41017	2.219000	0.42899	2.555000	0.86185	0.650000	0.86243	GTT		0.353	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			21	863	0	0	0	1	0	21	863				
ADAMTS3	9508	broad.mit.edu	37	4	73280626	73280626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73280626C>T	ENST00000286657.4	-	4	603	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	189					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCTCCATCTGTTTACCTC	0.378																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(565-567)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							168.0	163.0	164.0					4																	73280626		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280626C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.567G>A	4.37:g.73280626C>T							p.Q189Q	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	603	-			189					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.567G>A	CCDS3553.1																																																																																				0.378	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			20	270	0	0	0	1	0	20	270				
RAB3IP	117177	broad.mit.edu	37	12	70149369	70149369	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149369T>C	ENST00000247833.7	+	2	557	c.181T>C	c.(181-183)Tct>Cct	p.S61P	RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000550536.1_Missense_Mutation_p.S77P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTAGATGTTTCTGAACTTCC	0.418																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(229-231)Tct>Cct		RAB3A interacting protein							157.0	143.0	148.0					12																	70149369		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149369T>C		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.181T>C	12.37:g.70149369T>C	ENSP00000247833:p.Ser61Pro					RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P|RAB3IP_ENST00000247833.7_Missense_Mutation_p.S61P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P	p.S77P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	686	+	Esophageal squamous(21;0.187)		77						Missense_Mutation	SNP	ENST00000247833.7	37	c.229T>C	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897894	0.72639	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.49139	0.8;0.79	5.93	5.93	0.95920	.	0.104008	0.64402	D	0.000003	T	0.40247	0.1109	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.53151	0.958;0.895;0.958;0.958	B;B;B;B	0.44044	0.439;0.422;0.277;0.439	T	0.39251	-0.9623	10	0.66056	D	0.02	.	12.843	0.57813	0.0:0.0:0.1359:0.8641	.	77;77;61;61	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	P	61;61;61;61;77;77	ENSP00000247833:S61P;ENSP00000447300:S77P	ENSP00000247833:S61P	S	+	1	0	RAB3IP	68435636	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.381000	0.52455	2.271000	0.75665	0.533000	0.62120	TCT		0.418	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		72	317	0	0	0	1	0	72	317				
ZNF425	155054	broad.mit.edu	37	7	148801594	148801594	+	Missense_Mutation	SNP	T	T	C	rs148457097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801594T>C	ENST00000378061.2	-	4	1501	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	457					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGCGCGCATGGCGTTCCTC	0.672																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1369-1371)Atg>Gtg		zinc finger protein 425		T	VAL/MET	0,4406		0,0,2203	34.0	35.0	34.0		1369	-1.5	0.0	7	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF425	NM_001001661.2	21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	457/753	148801594	1,13005	2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801594T>C	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1369A>G	7.37:g.148801594T>C	ENSP00000367300:p.Met457Val						p.M457V	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1501	-	Melanoma(164;0.15)		457					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1369A>G	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695657	0.68386	0.0	1.16E-4	ENSG00000204947	ENST00000378061	T	0.17213	2.29	3.17	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	L	0.31664	0.95	0.09310	N	1	B	0.33694	0.421	B	0.31191	0.125	T	0.27673	-1.0067	9	0.87932	D	0	.	5.7292	0.18030	0.1752:0.0:0.5343:0.2906	.	457	Q6IV72	ZN425_HUMAN	V	457	ENSP00000367300:M457V	ENSP00000367300:M457V	M	-	1	0	ZNF425	148432527	0.001000	0.12720	0.007000	0.13788	0.913000	0.54294	0.052000	0.14163	-0.012000	0.14223	0.533000	0.62120	ATG		0.672	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		67	291	0	0	0	1	0	67	291				
CD3E	916	broad.mit.edu	37	11	118179150	118179150	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118179150G>T	ENST00000361763.4	+	4	370	c.79G>T	c.(79-81)Gaa>Taa	p.E27*	CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	27					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGGTAATGAAGAAATGGGTAA	0.393																																						ENST00000361763.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(79-81)Gaa>Taa		CD3e molecule, epsilon (CD3-TCR complex)	Muromonab(DB00075)						80.0	66.0	71.0					11																	118179150		2192	4293	6485	SO:0001587	stop_gained	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118179150G>T	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.79G>T	11.37:g.118179150G>T	ENSP00000354566:p.Glu27*					CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	p.E27*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	4	370	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	27					A8K997	Nonsense_Mutation	SNP	ENST00000361763.4	37	c.79G>T	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135106	0.56828	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	.	.	.	4.19	0.081	0.14423	.	3.197390	0.00919	N	0.002561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.1578	0.10270	0.2967:0.1715:0.5318:0.0	.	.	.	.	X	27	.	ENSP00000354566:E27X	E	+	1	0	CD3E	117684360	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.268000	0.02836	0.027000	0.15297	0.561000	0.74099	GAA		0.393	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		5	37	1	0	4.096e-09	1	4.30383e-09	5	37				
PKD2L1	9033	broad.mit.edu	37	10	102056007	102056007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102056007C>T	ENST00000318222.3	-	7	1610	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E410K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E335K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	410					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CGATTCACCTCGAGGGTTCGG	0.542																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1228-1230)Gag>Aag		polycystic kidney disease 2-like 1							84.0	74.0	77.0					10																	102056007		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056007C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1228G>A	10.37:g.102056007C>T	ENSP00000325296:p.Glu410Lys					PKD2L1_ENST00000353274.3_Missense_Mutation_p.E410K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E335K	p.E410K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	7	1610	-		Colorectal(252;0.117)	410					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1228G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458255	0.43634	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.69926	-0.44;-0.44;-0.44	5.8	4.9	0.64082	Polycystin cation channel, PKD1/PKD2 (1);	0.096556	0.64402	N	0.000001	T	0.47637	0.1456	N	0.12443	0.215	0.36847	D	0.887713	B;B	0.28208	0.203;0.111	B;B	0.26416	0.069;0.061	T	0.51252	-0.8729	10	0.23891	T	0.37	-15.2324	13.8093	0.63252	0.0:0.9273:0.0:0.0727	.	363;410	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	K	335;410;410;408	ENSP00000345068:E335K;ENSP00000266049:E410K;ENSP00000325296:E410K	ENSP00000325296:E410K	E	-	1	0	PKD2L1	102045997	1.000000	0.71417	0.927000	0.36925	0.958000	0.62258	4.533000	0.60615	1.476000	0.48215	0.561000	0.74099	GAG		0.542	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		46	195	0	0	0	1	0	46	195				
FANCD2OS	115795	broad.mit.edu	37	3	10146033	10146033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10146033C>A	ENST00000450660.2	-	2	642	c.426G>T	c.(424-426)gaG>gaT	p.E142D	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.E142D	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	142																	GAATCTGAGGCTCCTTCAGTC	0.488																																						ENST00000450660.2																			0											c.(424-426)gaG>gaT		FANCD2 opposite strand							147.0	135.0	139.0					3																	10146033		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146033C>A	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.426G>T	3.37:g.10146033C>A	ENSP00000429608:p.Glu142Asp					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.E142D	p.E142D	NM_001164839.1	NP_001158311.1					2	642	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.426G>T	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610865	0.46527	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	1.43	0.22495	.	0.000000	0.64402	D	0.000001	T	0.52677	0.1749	L	0.29908	0.895	0.36691	D	0.879583	D	0.55605	0.972	P	0.59948	0.866	T	0.58940	-0.7547	9	0.87932	D	0	.	9.2381	0.37479	0.0:0.6232:0.0:0.3768	.	142	Q96PS1	CC024_HUMAN	D	142	.	ENSP00000429608:E142D	E	-	3	2	C3orf24	10121033	0.991000	0.36638	0.999000	0.59377	0.993000	0.82548	0.140000	0.16056	0.226000	0.20979	-0.156000	0.13503	GAG		0.488	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		25	496	1	0	2.44723e-14	1	2.65813e-14	25	496				
GNPDA1	10007	broad.mit.edu	37	5	141384674	141384674	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384674G>A	ENST00000508177.1	-	4	1175	c.417C>T	c.(415-417)ggC>ggT	p.G139G	GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000311337.6_Silent_p.G139G|GNPDA1_ENST00000513454.1_Silent_p.G139G|GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000500692.2_Silent_p.G139G			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	139					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCATCAGGGCCGATGCCTA	0.557																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(415-417)ggC>ggT		glucosamine-6-phosphate deaminase 1							49.0	44.0	45.0					5																	141384674		2203	4300	6503	SO:0001819	synonymous_variant	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384674G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.417C>T	5.37:g.141384674G>A						GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000500692.2_Silent_p.G139G|GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000311337.6_Silent_p.G139G|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000513454.1_Silent_p.G139G	p.G139G			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1175	-		all_hematologic(541;0.118)	139					B7Z3X4|D3DQE7	Silent	SNP	ENST00000508177.1	37	c.417C>T	CCDS4272.1																																																																																				0.557	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		18	101	0	0	0	1	0	18	101				
ATRNL1	26033	broad.mit.edu	37	10	117093850	117093850	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117093850A>C	ENST00000355044.3	+	19	3222	c.3096A>C	c.(3094-3096)aaA>aaC	p.K1032N	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1032	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACAGTGTAAAAATCTCACCA	0.368																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3094-3096)aaA>aaC		attractin-like 1							134.0	117.0	123.0					10																	117093850		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117093850A>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3096A>C	10.37:g.117093850A>C	ENSP00000347152:p.Lys1032Asn					ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	p.K1032N	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	19	3222	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1032			Laminin EGF-like 1.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3096A>C	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960285	0.34565	.	.	ENSG00000107518	ENST00000355044	T	0.64260	-0.09	5.45	4.32	0.51571	EGF-like, laminin (3);	0.047709	0.85682	D	0.000000	T	0.50120	0.1597	L	0.47078	1.49	0.80722	D	1	B	0.23650	0.089	B	0.19391	0.025	T	0.38929	-0.9638	10	0.21540	T	0.41	-18.1281	8.1716	0.31258	0.8428:0.0:0.1572:0.0	.	1032	Q5VV63	ATRN1_HUMAN	N	1032	ENSP00000347152:K1032N	ENSP00000347152:K1032N	K	+	3	2	ATRNL1	117083840	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	1.014000	0.39417	0.482000	0.46254	AAA		0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		9	294	0	0	0	1	0	9	294				
STOX2	56977	broad.mit.edu	37	4	184930594	184930594	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184930594C>T	ENST00000308497.4	+	3	2038	c.603C>T	c.(601-603)tgC>tgT	p.C201C	STOX2_ENST00000438269.1_Silent_p.C201C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	201					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTGCCACTGCTGCAGAGAAG	0.602																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(601-603)tgC>tgT		storkhead box 2							82.0	86.0	85.0					4																	184930594		2139	4241	6380	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184930594C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.603C>T	4.37:g.184930594C>T						STOX2_ENST00000438269.1_Silent_p.C201C	p.C201C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2038	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	201					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.603C>T	CCDS47167.1																																																																																				0.602	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		29	331	0	0	0	1	0	29	331				
CHRM3	1131	broad.mit.edu	37	1	240070919	240070919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070919C>T	ENST00000255380.4	+	5	947	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	56					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.T56T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACGGTACCACCGATGACCCTC	0.572																																						ENST00000255380.4																			1	Substitution - coding silent(1)	p.T56T(1)	endometrium(1)	breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(166-168)acC>acT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						106.0	99.0	101.0					1																	240070919		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070919C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.168C>T	1.37:g.240070919C>T							p.T56T	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	947	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	56					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.168C>T	CCDS1616.1																																																																																				0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		117	375	0	0	0	1	0	117	375				
EEA1	8411	broad.mit.edu	37	12	93226446	93226446	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93226446C>T	ENST00000322349.8	-	11	1360	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	366					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACTTAGTTCTACATGTATT	0.393																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1096-1098)Gaa>Aaa		early endosome antigen 1							151.0	141.0	144.0					12																	93226446		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93226446C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1096G>A	12.37:g.93226446C>T	ENSP00000317955:p.Glu366Lys						p.E366K	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			11	1360	-			366					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1096G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756161	0.69648	.	.	ENSG00000102189	ENST00000322349	T	0.69685	-0.42	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000049	T	0.74921	0.3780	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.73538	-0.3951	10	0.39692	T	0.17	.	19.4513	0.94869	0.0:1.0:0.0:0.0	.	366	Q15075	EEA1_HUMAN	K	366	ENSP00000317955:E366K	ENSP00000317955:E366K	E	-	1	0	EEA1	91750577	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	6.625000	0.74248	2.577000	0.86979	0.655000	0.94253	GAA		0.393	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		98	486	0	0	0	1	0	98	486				
GOLPH3	64083	broad.mit.edu	37	5	32126532	32126532	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126532T>G	ENST00000265070.6	-	4	998	c.683A>C	c.(682-684)gAc>gCc	p.D228A	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	228					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GCGGTGAGGGTCATTCACCCA	0.502																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(682-684)gAc>gCc		golgi phosphoprotein 3 (coat-protein)							189.0	170.0	177.0					5																	32126532		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126532T>G	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.683A>C	5.37:g.32126532T>G	ENSP00000265070:p.Asp228Ala						p.D228A	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	998	-			228					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.683A>C	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834356	0.50951	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	.	0.086647	0.85682	D	0.000000	T	0.79028	0.4377	M	0.90082	3.085	0.80722	D	1	P	0.49783	0.928	P	0.53266	0.722	T	0.82127	-0.0611	9	0.49607	T	0.09	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	228	Q9H4A6	GOLP3_HUMAN	A	228;211	.	ENSP00000265070:D228A	D	-	2	0	GOLPH3	32162289	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.649000	0.83500	2.367000	0.80283	0.528000	0.53228	GAC		0.502	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		134	491	0	0	0	1	0	134	491				
BBS1	582	broad.mit.edu	37	11	66297358	66297358	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66297358G>T	ENST00000318312.7	+	14	1459	c.1408G>T	c.(1408-1410)Gcc>Tcc	p.A470S	BBS1_ENST00000393994.2_Missense_Mutation_p.A341S|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.A373S|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.A507S	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	470					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CTACCTGCAGGCCCTCGAGTC	0.667									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1519-1521)Gcc>Tcc									68.0	46.0	54.0					11																	66297358		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66297358G>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1408G>T	11.37:g.66297358G>T	ENSP00000317469:p.Ala470Ser					BBS1_ENST00000393994.2_Missense_Mutation_p.A341S|BBS1_ENST00000455748.2_Missense_Mutation_p.A373S|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Missense_Mutation_p.A470S	p.A507S							14	1597	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1519G>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897593	0.91962	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97209	-4.22;-4.29;-4.11;-4.0	4.45	4.45	0.53987	.	.	.	.	.	D	0.97567	0.9203	M	0.64260	1.97	0.80722	D	1	D;D;B;D;D;D	0.67145	0.989;0.986;0.302;0.996;0.996;0.995	P;P;B;P;P;P	0.61940	0.852;0.84;0.162;0.896;0.858;0.814	D	0.97919	1.0313	9	0.59425	D	0.04	.	14.9491	0.71057	0.0:0.0:1.0:0.0	.	145;373;341;358;470;507	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	S	507;470;373;341	ENSP00000398526:A507S;ENSP00000317469:A470S;ENSP00000405764:A373S;ENSP00000377563:A341S	ENSP00000317469:A470S	A	+	1	0	BBS1;CTD-3074O7.11	66053934	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.100000	0.76989	2.196000	0.70406	0.650000	0.86243	GCC		0.667	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			43	179	1	0	1.48734e-19	1	1.65976e-19	43	179				
PRRC2B	84726	broad.mit.edu	37	9	134358214	134358214	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134358214G>A	ENST00000357304.4	+	21	5348	c.5293G>A	c.(5293-5295)Gtc>Atc	p.V1765I	SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000405995.1_Missense_Mutation_p.V1071I|PRRC2B_ENST00000458550.1_Missense_Mutation_p.V1071I|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1765							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGGGCTGTCGTCCCGCCTGT	0.567																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(5293-5295)Gtc>Atc		proline-rich coiled-coil 2B							24.0	28.0	27.0					9																	134358214		1949	4133	6082	SO:0001583	missense	84726						protein binding	g.chr9:134358214G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5293G>A	9.37:g.134358214G>A	ENSP00000349856:p.Val1765Ile					PRRC2B_ENST00000405995.1_Missense_Mutation_p.V1071I|PRRC2B_ENST00000458550.1_Missense_Mutation_p.V1071I|PRRC2B_ENST00000372249.1_5'UTR	p.V1765I	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			21	5348	+			1765					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.5293G>A	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.670|8.670	0.902559|0.902559	0.17760|0.17760	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000405995;ENST00000357304;ENST00000458550	.|T;T;T	.|0.02763	.|4.17;4.49;4.17	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|.	.|.	.|.	.|.	T|T	0.02571|0.02571	0.0078|0.0078	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19200	.|0.034;0.02	.|B;B	.|0.16722	.|0.016;0.007	T|T	0.54609|0.54609	-0.8268|-0.8268	5|9	.|0.18710	.|T	.|0.47	-30.4445|-30.4445	10.8739|10.8739	0.46900|0.46900	0.0969:0.0:0.9031:0.0|0.0969:0.0:0.9031:0.0	.|.	.|497;1765	.|Q5JSZ8;Q5JSZ5	.|.;PRC2B_HUMAN	H|I	497|1071;1765;1071	.|ENSP00000384606:V1071I;ENSP00000349856:V1765I;ENSP00000398853:V1071I	.|ENSP00000349856:V1765I	R|V	+|+	2|1	0|0	PRRC2B|PRRC2B	133348035|133348035	0.996000|0.996000	0.38824|0.38824	0.034000|0.034000	0.17996|0.17996	0.003000|0.003000	0.03518|0.03518	2.912000|2.912000	0.48782|0.48782	2.333000|2.333000	0.79357|0.79357	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.567	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	58	0	0	0	1	0	4	58				
EEF1D	1936	broad.mit.edu	37	8	144671274	144671274	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671274C>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532741.1_Silent_p.E376E|EEF1D_ENST00000442189.2_Silent_p.E326E|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Silent_p.E326E			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGTGGCGGCACTCGGCGCTGT	0.692																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1126-1128)gaG>gaA		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							20.0	20.0	20.0					8																	144671274		2196	4292	6488	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671274C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2255G>A	8.37:g.144671274C>T						EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Silent_p.E326E|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Silent_p.E326E|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron	p.E376E			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1356	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.1128G>A	CCDS6405.1																																																																																				0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		26	101	0	0	0	1	0	26	101				
ZNF3	7551	broad.mit.edu	37	7	99669525	99669525	+	Silent	SNP	G	G	A	rs189904128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669525G>A	ENST00000424697.1	-	6	888	c.582C>T	c.(580-582)ccC>ccT	p.P194P	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Silent_p.P194P|ZNF3_ENST00000299667.4_Silent_p.P194P	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	194					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTCTCCCACGGGGAGTCTCT	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21510	0.0		0.0	False		,,,				2504	0.0					ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(580-582)ccC>ccT		zinc finger protein 3		G	,	0,4182		0,0,2091	95.0	100.0	98.0		,582	-3.6	0.9	7		98	1,8483		0,1,4241	no	intron,coding-synonymous	ZNF3	NM_017715.2,NM_032924.3	,	0,1,6332	AA,AG,GG		0.0118,0.0,0.0079	,	,194/447	99669525	1,12665	2091	4242	6333	SO:0001819	synonymous_variant	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669525G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.582C>T	7.37:g.99669525G>A						ZNF3_ENST00000424697.1_Silent_p.P194P|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Silent_p.P194P	p.P194P			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1549	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	194					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	37	c.582C>T	CCDS43619.1																																																																																				0.458	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		122	448	0	0	0	1	0	122	448				
SSTR5	6755	broad.mit.edu	37	16	1129482	1129482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129482C>T	ENST00000293897.4	+	1	702	c.614C>T	c.(613-615)aCg>aTg	p.T205M	SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M|SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	205					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ATCATCTACACGGCCGTGCTG	0.697																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(613-615)aCg>aTg		somatostatin receptor 5	Octreotide(DB00104)						40.0	42.0	42.0					16																	1129482		2183	4294	6477	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129482C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.614C>T	16.37:g.1129482C>T	ENSP00000293897:p.Thr205Met					SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M|SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M	p.T205M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	702	+		Hepatocellular(780;0.00369)	205					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.614C>T	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563140	0.45694	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.72615	-0.67;-0.67	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	M	0.71871	2.18	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	D	0.84967	0.0880	10	0.59425	D	0.04	.	16.7462	0.85473	0.0:1.0:0.0:0.0	.	205	P35346	SSR5_HUMAN	M	205	ENSP00000380680:T205M;ENSP00000293897:T205M	ENSP00000293897:T205M	T	+	2	0	SSTR5	1069483	1.000000	0.71417	0.968000	0.41197	0.391000	0.30476	7.602000	0.82796	2.202000	0.70862	0.561000	0.74099	ACG		0.697	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			9	141	0	0	0	1	0	9	141				
ASPSCR1	79058	broad.mit.edu	37	17	79973230	79973230	+	Intron	SNP	C	C	T	rs554183485		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79973230C>T	ENST00000306739.4	+	13	1450				ASPSCR1_ENST00000306729.7_Missense_Mutation_p.R545W|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000580534.1_Intron	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1						glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGGACAGGCCGGGTAGGCTG	0.672			T	TFE3	alveolar soft part sarcoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17083	0.0		0.0	False		,,,				2504	0.0					ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(1633-1635)Cgg>Tgg		alveolar soft part sarcoma chromosome region, candidate 1																																				SO:0001627	intron_variant	79058						protein binding	g.chr17:79973230C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1354-1122C>T	17.37:g.79973230C>T						ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron	p.R545W	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		13	1730	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		451					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.1633C>T	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239398	0.22711	.	.	ENSG00000169696	ENST00000306729	T	0.24723	1.84	0.53	-1.06	0.10002	.	5.925570	0.02420	U	0.082463	T	0.42268	0.1195	.	.	.	0.09310	N	0.999999	D	0.76494	0.999	D	0.69307	0.963	T	0.22871	-1.0204	7	.	.	.	.	.	.	.	.	545	Q9BZE9-2	.	W	545	ENSP00000306625:R545W	.	R	+	1	2	ASPSCR1	77566519	0.000000	0.05858	0.011000	0.14972	0.051000	0.14879	-1.076000	0.03420	-1.280000	0.02402	-1.088000	0.02184	CGG		0.672	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		23	139	0	0	0	1	0	23	139				
PSMC2	5701	broad.mit.edu	37	7	103008360	103008360	+	Silent	SNP	C	C	T	rs183253099		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103008360C>T	ENST00000435765.1	+	13	1572	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Silent_p.S250S|PSMC2_ENST00000292644.3_Silent_p.S387S	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	387					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S387S(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGATTAGAAGCGTCTGCACAG	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17110	0.0		0.0	False		,,,				2504	0.0					ENST00000435765.1																			1	Substitution - coding silent(1)	p.S387S(1)	cervix(1)	breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1159-1161)agC>agT		proteasome (prosome, macropain) 26S subunit, ATPase, 2							98.0	95.0	96.0					7																	103008360		2203	4300	6503	SO:0001819	synonymous_variant	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008360C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1161C>T	7.37:g.103008360C>T						SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Silent_p.S387S|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.S250S|SLC26A5_ENST00000356767.4_Intron	p.S387S	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			13	1572	+			387					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.1161C>T	CCDS5731.1																																																																																				0.408	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		80	432	0	0	0	1	0	80	432				
ANAPC4	29945	broad.mit.edu	37	4	25418146	25418146	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418146C>A	ENST00000315368.3	+	27	2143	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	ANAPC4_ENST00000510092.1_Silent_p.V668V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	667					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GACTCTTGGTCCAGCTGCCTT	0.373																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(1999-2001)gtC>gtA		anaphase promoting complex subunit 4							118.0	112.0	114.0					4																	25418146		2203	4300	6503	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25418146C>A	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2001C>A	4.37:g.25418146C>A						ANAPC4_ENST00000510092.1_Silent_p.V668V	p.V667V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			27	2143	+		Breast(46;0.0503)	667					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.2001C>A	CCDS3434.1																																																																																				0.373	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		52	253	1	0	1.38909e-20	1	1.55765e-20	52	253				
HPS1	3257	broad.mit.edu	37	10	100177447	100177447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100177447G>A	ENST00000325103.6	-	20	2210	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000361490.4_Silent_p.T659T|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	659					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.T659T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGACAGCCTCGGTTGGGCGGT	0.667									Hermansky-Pudlak syndrome																													ENST00000325103.6																			1	Substitution - coding silent(1)	p.T659T(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1975-1977)acC>acT		Hermansky-Pudlak syndrome 1							72.0	65.0	67.0					10																	100177447		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100177447G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1977C>T	10.37:g.100177447G>A						HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.T659T	p.T659T	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	20	2210	-		Colorectal(252;0.234)	659					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.1977C>T	CCDS7475.1																																																																																				0.667	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		48	217	0	0	0	1	0	48	217				
STAB2	55576	broad.mit.edu	37	12	104015879	104015879	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104015879C>T	ENST00000388887.2	+	5	681	c.477C>T	c.(475-477)agC>agT	p.S159S		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTGGACCCAGCTGTTCATCAG	0.448																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(475-477)agC>agT		stabilin 2							241.0	207.0	219.0					12																	104015879		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104015879C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.477C>T	12.37:g.104015879C>T							p.S159S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			5	681	+			159			EGF-like 2.			Silent	SNP	ENST00000388887.2	37	c.477C>T	CCDS31888.1																																																																																				0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			44	238	0	0	0	1	0	44	238				
TMEM237	65062	broad.mit.edu	37	2	202492840	202492840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202492840C>T	ENST00000409883.2	-	10	1018	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	TMEM237_ENST00000409444.2_Missense_Mutation_p.R293Q|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	301					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CAAAAAATTTCGGATTGCTAC	0.323																																						ENST00000409444.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						c.(877-879)cGa>cAa		transmembrane protein 237							52.0	50.0	50.0					2																	202492840		1814	4072	5886	SO:0001583	missense	65062					integral to membrane	protein binding	g.chr2:202492840C>T	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.902G>A	2.37:g.202492840C>T	ENSP00000386264:p.Arg301Gln					TMEM237_ENST00000409883.2_Missense_Mutation_p.R301Q|TMEM237_ENST00000466839.1_5'UTR	p.R293Q	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN			10	1195	-			325					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	ENST00000409883.2	37	c.878G>A	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773231	0.90108	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.38	4.5	0.54988	.	0.161524	0.49916	N	0.000136	T	0.76564	0.4005	M	0.68952	2.095	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.79024	-0.1972	9	0.72032	D	0.01	-5.6558	13.7138	0.62685	0.0:0.9261:0.0:0.0739	.	301;325	E9PAR8;Q96Q45	.;TM237_HUMAN	Q	293;301;301;323;206	.	ENSP00000386949:R206Q	R	-	2	0	TMEM237	202201085	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.610000	0.54125	1.263000	0.44181	0.563000	0.77884	CGA		0.323	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		11	46	0	0	0	1	0	11	46				
FRYL	285527	broad.mit.edu	37	4	48502115	48502115	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48502115A>C	ENST00000503238.1	-	60	8714	c.8715T>G	c.(8713-8715)atT>atG	p.I2905M	FRYL_ENST00000358350.4_Missense_Mutation_p.I2905M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000507873.2_Missense_Mutation_p.I295M|FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M			O94915	FRYL_HUMAN	FRY-like	2905					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTAAAGAATGAATGGCAGTTT	0.373																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8713-8715)atT>atG		FRY-like							89.0	87.0	87.0					4																	48502115		1826	4077	5903	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48502115A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8715T>G	4.37:g.48502115A>C	ENSP00000426064:p.Ile2905Met					FRYL_ENST00000507873.2_Missense_Mutation_p.I295M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000503238.1_Missense_Mutation_p.I2905M|FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M	p.I2905M	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			63	9319	-			2905					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8715T>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826638	0.71143	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.25579	1.79;1.79;1.79	5.95	2.33	0.28932	.	0.071684	0.53938	U	0.000056	T	0.36303	0.0962	L	0.50333	1.59	0.54753	D	0.999988	P;P;D	0.63880	0.586;0.821;0.993	P;P;P	0.61477	0.602;0.776;0.889	T	0.04885	-1.0920	10	0.52906	T	0.07	.	8.3532	0.32314	0.7613:0.0:0.2387:0.0	.	2905;2905;295	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	M	2905;2905;2905;295;295	ENSP00000426064:I2905M;ENSP00000351113:I2905M;ENSP00000441114:I2905M	ENSP00000264319:I295M	I	-	3	3	FRYL	48196872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.077000	0.50089	0.509000	0.28195	0.402000	0.26972	ATT		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			59	278	0	0	0	1	0	59	278				
MYLK	4638	broad.mit.edu	37	3	123452821	123452821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123452821G>T	ENST00000475616.1	-	7	1021	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	MYLK_ENST00000360304.3_Missense_Mutation_p.T341N|MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N|MYLK_ENST00000360772.3_Missense_Mutation_p.T341N			Q15746	MYLK_HUMAN	myosin light chain kinase	341					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCTGGAAGTCTTCTGAAG	0.622																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1021-1023)aCt>aAt		myosin light chain kinase							62.0	68.0	66.0					3																	123452821		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452821G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1022C>A	3.37:g.123452821G>T	ENSP00000418335:p.Thr341Asn					MYLK_ENST00000360304.3_Missense_Mutation_p.T341N|MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000475616.1_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N	p.T341N			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1400	-		Lung NSC(201;0.0496)	341					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1022C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322766	0.41096	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.26;-0.2;-0.26;-0.3;-0.2	5.43	4.55	0.56014	.	.	.	.	.	T	0.60340	0.2261	L	0.29908	0.895	0.80722	D	1	P;B;P;B;P	0.48407	0.91;0.288;0.91;0.288;0.855	P;B;P;B;P	0.50791	0.65;0.22;0.65;0.22;0.448	T	0.54866	-0.8229	9	0.16896	T	0.51	.	11.3941	0.49832	0.0844:0.0:0.9156:0.0	.	341;341;341;341;341	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	341	ENSP00000354004:T341N;ENSP00000353452:T341N;ENSP00000352088:T341N;ENSP00000320622:T341N;ENSP00000418335:T341N	ENSP00000320622:T341N	T	-	2	0	MYLK	124935511	1.000000	0.71417	0.996000	0.52242	0.137000	0.21094	3.146000	0.50631	1.520000	0.48965	0.655000	0.94253	ACT		0.622	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		51	619	1	0	9.57592e-29	1	1.11608e-28	51	619				
SUCLG1	8802	broad.mit.edu	37	2	84668576	84668576	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668576T>G	ENST00000393868.2	-	4	536	c.326A>C	c.(325-327)gAa>gCa	p.E109A		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	109					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTGTCTGTTCTTTGGCCTG	0.378																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(325-327)gAa>gCa		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						55.0	55.0	55.0					2																	84668576		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84668576T>G	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.326A>C	2.37:g.84668576T>G	ENSP00000377446:p.Glu109Ala						p.E109A	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			4	536	-			109					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.326A>C	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613566	0.28712	.	.	ENSG00000163541	ENST00000393868	D	0.82893	-1.66	5.89	4.72	0.59763	CoA-binding (2);NAD(P)-binding domain (1);	0.143560	0.64402	N	0.000007	T	0.68265	0.2982	N	0.16201	0.385	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.005;0.007	T	0.59558	-0.7432	10	0.17832	T	0.49	-12.6	11.4718	0.50272	0.0:0.0:0.1508:0.8492	.	109;109	B7Z438;P53597	.;SUCA_HUMAN	A	109	ENSP00000377446:E109A	ENSP00000377446:E109A	E	-	2	0	SUCLG1	84522087	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	4.131000	0.57970	1.027000	0.39758	0.459000	0.35465	GAA		0.378	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		26	167	0	0	0	1	0	26	167				
SP7	121340	broad.mit.edu	37	12	53722858	53722858	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53722858G>T	ENST00000536324.2	-	3	651	c.368C>A	c.(367-369)cCc>cAc	p.P123H	SP7_ENST00000303846.3_Missense_Mutation_p.P123H|SP7_ENST00000537210.2_Missense_Mutation_p.P105H	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	123					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTAGACACTGGGCAGACAGTC	0.577																																						ENST00000536324.2																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(367-369)cCc>cAc		Sp7 transcription factor							74.0	77.0	76.0					12																	53722858		1985	4172	6157	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722858G>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.368C>A	12.37:g.53722858G>T	ENSP00000443827:p.Pro123His					SP7_ENST00000537210.2_Missense_Mutation_p.P105H|SP7_ENST00000303846.3_Missense_Mutation_p.P123H	p.P123H	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN			3	651	-			123					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.368C>A	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030371	0.35797	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.42900	3.33;3.33;3.33;0.96	3.79	2.85	0.33270	.	0.209202	0.39834	N	0.001260	T	0.42404	0.1201	N	0.24115	0.695	0.43540	D	0.995831	D	0.64830	0.994	P	0.59221	0.854	T	0.24333	-1.0163	10	0.37606	T	0.19	.	11.9609	0.53007	0.0:0.0:0.8241:0.1759	.	123	Q8TDD2	SP7_HUMAN	H	123;123;105;105	ENSP00000443827:P123H;ENSP00000302812:P123H;ENSP00000441367:P105H;ENSP00000449355:P105H	ENSP00000302812:P123H	P	-	2	0	SP7	52009125	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.761000	0.55242	1.108000	0.41662	0.313000	0.20887	CCC		0.577	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			57	254	1	0	5.82388e-19	1	6.47979e-19	57	254				
N4BP3	23138	broad.mit.edu	37	5	177547263	177547263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547263G>T	ENST00000274605.5	+	3	774	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	139						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCCACAAAGGCCAGAAGCT	0.677																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(415-417)Ggc>Tgc		NEDD4 binding protein 3							36.0	37.0	37.0					5																	177547263		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177547263G>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.415G>T	5.37:g.177547263G>T	ENSP00000274605:p.Gly139Cys						p.G139C	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	774	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	139					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.415G>T	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433364	0.62844	.	.	ENSG00000145911	ENST00000274605	T	0.00545	6.67	5.13	5.13	0.70059	.	0.305258	0.39544	N	0.001337	T	0.01454	0.0047	L	0.43152	1.355	0.41753	D	0.989678	D	0.89917	1.0	D	0.87578	0.998	T	0.73129	-0.4080	10	0.66056	D	0.02	-36.6317	13.9377	0.64034	0.0:0.0:1.0:0.0	.	139	O15049	N4BP3_HUMAN	C	139	ENSP00000274605:G139C	ENSP00000274605:G139C	G	+	1	0	N4BP3	177479869	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.502000	0.60400	2.668000	0.90789	0.655000	0.94253	GGC		0.677	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		28	242	1	0	1.17739e-12	1	1.26592e-12	28	242				
CCDC85A	114800	broad.mit.edu	37	2	56420234	56420234	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420234G>T	ENST00000407595.2	+	2	1401	c.899G>T	c.(898-900)aGc>aTc	p.S300I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	300	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCCAGGGAGCAGCCCCGAA	0.637																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(898-900)aGc>aTc		coiled-coil domain containing 85A							60.0	75.0	70.0					2																	56420234		2055	4196	6251	SO:0001583	missense	114800							g.chr2:56420234G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.899G>T	2.37:g.56420234G>T	ENSP00000384040:p.Ser300Ile					RP11-482H16.1_ENST00000607540.1_RNA	p.S300I	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1401	+			300			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.899G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148388	0.37923	.	.	ENSG00000055813	ENST00000407595	T	0.47869	0.83	5.35	4.47	0.54385	.	0.425405	0.29053	N	0.013291	T	0.39009	0.1062	L	0.34521	1.04	0.80722	D	1	P	0.48162	0.906	B	0.41619	0.361	T	0.28902	-1.0029	10	0.49607	T	0.09	-47.9685	14.0689	0.64849	0.073:0.0:0.927:0.0	.	300	Q96PX6	CC85A_HUMAN	I	300	ENSP00000384040:S300I	ENSP00000384040:S300I	S	+	2	0	CCDC85A	56273738	1.000000	0.71417	0.993000	0.49108	0.642000	0.38348	5.460000	0.66691	1.260000	0.44134	0.591000	0.81541	AGC		0.637	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			42	611	1	0	4.32679e-17	1	4.76816e-17	42	611				
XCR1	2829	broad.mit.edu	37	3	46062946	46062946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46062946G>A	ENST00000309285.3	-	2	850	c.494C>T	c.(493-495)aCc>aTc	p.T165I	XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	165					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGGAAGATGGTGTCGAGGAT	0.607																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(493-495)aCc>aTc		chemokine (C motif) receptor 1							61.0	61.0	61.0					3																	46062946		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062946G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.494C>T	3.37:g.46062946G>A	ENSP00000310405:p.Thr165Ile					XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	p.T165I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	850	-			165						Missense_Mutation	SNP	ENST00000309285.3	37	c.494C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.399	-0.919378	0.02396	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.36520	1.25;1.25	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.773393	0.12567	N	0.457631	T	0.12860	0.0312	N	0.02266	-0.62	0.19575	N	0.999965	B	0.14012	0.009	B	0.13407	0.009	T	0.31724	-0.9933	10	0.02654	T	1	.	7.2787	0.26300	0.2029:0.0:0.7971:0.0	.	165	P46094	XCR1_HUMAN	I	165	ENSP00000310405:T165I;ENSP00000438119:T165I	ENSP00000310405:T165I	T	-	2	0	XCR1	46037950	0.004000	0.15560	0.246000	0.24233	0.005000	0.04900	1.657000	0.37366	2.626000	0.88956	0.650000	0.86243	ACC		0.607	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			30	152	0	0	0	1	0	30	152				
OR2L13	284521	broad.mit.edu	37	1	248263566	248263566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248263566C>T	ENST00000358120.2	+	2	1034	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	OR2L13_ENST00000366478.2_Silent_p.L297L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TAAGGAAGTCCTGGGGGCTAT	0.473																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(889-891)Ctg>Ttg		olfactory receptor, family 2, subfamily L, member 13							53.0	55.0	54.0					1																	248263566		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263566C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.889C>T	1.37:g.248263566C>T						OR2L13_ENST00000358120.2_Silent_p.L297L	p.L297L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1226	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		297					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.889C>T	CCDS1637.1																																																																																				0.473	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		11	334	0	0	0	1	0	11	334				
MYH7	4625	broad.mit.edu	37	14	23886420	23886420	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23886420G>T	ENST00000355349.3	-	32	4623	c.4461C>A	c.(4459-4461)gcC>gcA	p.A1487A	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1487					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTCCTCATAGGCGTTCTTGA	0.597																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4459-4461)gcC>gcA		myosin, heavy chain 7, cardiac muscle, beta							120.0	125.0	123.0					14																	23886420		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886420G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4461C>A	14.37:g.23886420G>T							p.A1487A	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	32	4623	-	all_cancers(95;2.54e-05)		1487					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4461C>A	CCDS9601.1																																																																																				0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		147	752	1	0	9.15414e-77	1	1.16831e-76	147	752				
MYO16	23026	broad.mit.edu	37	13	109475617	109475617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109475617C>T	ENST00000357550.2	+	8	1063	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	MYO16_ENST00000251041.5_Missense_Mutation_p.S341L|MYO16_ENST00000356711.2_Missense_Mutation_p.S341L	NM_001198950.1	NP_001185879.1			myosin XVI									p.S341L(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGTACTGTCGAGTAAGCTG	0.428																																						ENST00000356711.2																			1	Substitution - Missense(1)	p.S341L(1)	endometrium(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(1021-1023)tCg>tTg		myosin XVI							144.0	146.0	145.0					13																	109475617		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109475617C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1022C>T	13.37:g.109475617C>T	ENSP00000350160:p.Ser341Leu					MYO16_ENST00000357550.2_Missense_Mutation_p.S341L|MYO16_ENST00000251041.5_Missense_Mutation_p.S341L	p.S341L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		9	1148	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		341						Missense_Mutation	SNP	ENST00000357550.2	37	c.1022C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902418	0.33628	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.80824	-1.42;-1.42;-1.17	5.35	5.35	0.76521	.	0.181955	0.26432	U	0.024419	T	0.75729	0.3889	L	0.57536	1.79	0.80722	D	1	P;B	0.37122	0.583;0.398	B;B	0.30401	0.115;0.062	T	0.75459	-0.3310	9	.	.	.	.	16.2063	0.82133	0.0:1.0:0.0:0.0	.	341;341	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	341;341;341;341;129	ENSP00000349145:S341L;ENSP00000350160:S341L;ENSP00000251041:S341L	.	S	+	2	0	MYO16	108273618	0.923000	0.31300	0.339000	0.25562	0.078000	0.17371	3.263000	0.51546	2.499000	0.84300	0.585000	0.79938	TCG		0.428	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		115	552	0	0	0	1	0	115	552				
PLEC	5339	broad.mit.edu	37	8	144997397	144997397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997397G>A	ENST00000322810.4	-	31	7280	c.7111C>T	c.(7111-7113)Cgc>Tgc	p.R2371C	PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2371	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTGCACGCGCACCGAGAAG	0.642																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7111-7113)Cgc>Tgc		plectin							25.0	26.0	26.0					8																	144997397		2186	4273	6459	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997397G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7111C>T	8.37:g.144997397G>A	ENSP00000323856:p.Arg2371Cys					PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C	p.R2371C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7280	-			2371			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7111C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	5.110	0.205970	0.09704	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78816	-1.15;-1.15;-1.18;-1.18;-1.16;-1.14;-1.21;-1.15;-1.15	5.11	4.14	0.48551	.	0.099669	0.39341	U	0.001393	T	0.78246	0.4253	L	0.43923	1.385	0.50813	D	0.999893	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.998;0.999;0.999	P;P;P;P;P;P;P;P	0.53861	0.736;0.736;0.736;0.549;0.736;0.736;0.736;0.736	T	0.80741	-0.1247	10	0.87932	D	0	.	12.2609	0.54649	0.0:0.0:0.6987:0.3013	.	2261;2220;2212;2371;2202;2234;2238;2234	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2234;2238;2234;2202;2371;2212;2220;2261;2257	ENSP00000344848:R2234C;ENSP00000350277:R2238C;ENSP00000346602:R2234C;ENSP00000381756:R2202C;ENSP00000323856:R2371C;ENSP00000347044:R2212C;ENSP00000348702:R2220C;ENSP00000388180:R2261C;ENSP00000434583:R2257C	ENSP00000323856:R2371C	R	-	1	0	PLEC	145069385	0.962000	0.33011	0.983000	0.44433	0.044000	0.14063	3.072000	0.50049	2.372000	0.80975	0.549000	0.68633	CGC		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		38	167	0	0	0	1	0	38	167				
MYADM	91663	broad.mit.edu	37	19	54377236	54377236	+	Silent	SNP	C	C	T	rs376434685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377236C>T	ENST00000391769.2	+	3	733	c.453C>T	c.(451-453)taC>taT	p.Y151Y	MYADM_ENST00000336967.3_Silent_p.Y151Y|MYADM_ENST00000391770.4_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000391768.2_Silent_p.Y151Y|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	151	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGTGGCTTACGCCACCGAAG	0.652																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(451-453)taC>taT		myeloid-associated differentiation marker		C	,,,,	0,4406		0,0,2203	54.0	55.0	54.0		453,453,453,453,453	-5.3	0.1	19		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYADM	NM_001020818.1,NM_001020819.1,NM_001020820.1,NM_001020821.1,NM_138373.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	151/323,151/323,151/323,151/323,151/323	54377236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91663					integral to membrane		g.chr19:54377236C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.453C>T	19.37:g.54377236C>T						MYADM_ENST00000391770.4_Silent_p.Y151Y|MYADM_ENST00000391768.2_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000336967.3_Silent_p.Y151Y	p.Y151Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	733	+	Ovarian(34;0.19)		151			MARVEL 1.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	c.453C>T	CCDS12866.1																																																																																				0.652	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		79	415	0	0	0	1	0	79	415				
DENND4B	9909	broad.mit.edu	37	1	153905988	153905988	+	Missense_Mutation	SNP	G	G	A	rs369938170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153905988G>A	ENST00000361217.4	-	20	3719	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1101					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCGCTCCCGGGGGTGCAGA	0.662																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3301-3303)Cgg>Tgg		DENN/MADD domain containing 4B		G	TRP/ARG	2,3794		0,2,1896	14.0	16.0	15.0		3301	4.3	1.0	1		15	0,8062		0,0,4031	no	missense	DENND4B	NM_014856.2	101	0,2,5927	AA,AG,GG		0.0,0.0527,0.0169	probably-damaging	1101/1497	153905988	2,11856	1898	4031	5929	SO:0001583	missense	9909							g.chr1:153905988G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3301C>T	1.37:g.153905988G>A	ENSP00000354597:p.Arg1101Trp						p.R1101W	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3719	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1101					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3301C>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520513	0.64747	5.27E-4	0.0	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08458	3.18;3.09	5.17	4.26	0.50523	.	0.604283	0.16522	N	0.210745	T	0.03178	0.0093	N	0.14661	0.345	0.32359	N	0.557483	D	0.69078	0.997	P	0.47603	0.551	T	0.35624	-0.9781	10	0.72032	D	0.01	-25.4046	10.9546	0.47349	0.0877:0.0:0.9123:0.0	.	1101	O75064	DEN4B_HUMAN	W	1101;1112	ENSP00000354597:R1101W;ENSP00000357635:R1112W	ENSP00000354597:R1101W	R	-	1	2	DENND4B	152172612	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.929000	0.48916	1.416000	0.47057	0.455000	0.32223	CGG		0.662	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		49	147	0	0	0	1	0	49	147				
KIF16B	55614	broad.mit.edu	37	20	16348282	16348282	+	Intron	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16348282A>T	ENST00000354981.2	-	22	3656				KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000408042.1_Missense_Mutation_p.F1230I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCATGAAGAAAGTAAATCATG	0.423																																						ENST00000408042.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3688-3690)Ttt>Att		kinesin family member 16B							42.0	39.0	40.0					20																	16348282		876	1991	2867	SO:0001627	intron_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16348282A>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3498+2948T>A	20.37:g.16348282A>T						KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron	p.F1230I	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN			23	3845	-			0			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3688T>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694082	0.48202	.	.	ENSG00000089177	ENST00000408042	T	0.69435	-0.4	5.47	3.12	0.35913	.	0.164050	0.53938	D	0.000041	T	0.49779	0.1577	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37596	-0.9699	9	0.42905	T	0.14	.	3.5194	0.07736	0.6515:0.1419:0.0713:0.1353	.	1230	Q96L93-2	.	I	1230	ENSP00000384164:F1230I	ENSP00000384164:F1230I	F	-	1	0	KIF16B	16296282	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.976000	0.29462	0.320000	0.23234	0.445000	0.29226	TTT		0.423	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		25	99	0	0	0	1	0	25	99				
ANKRD34A	284615	broad.mit.edu	37	1	145474082	145474082	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145474082C>A	ENST00000323397.4	+	4	2047	c.754C>A	c.(754-756)Cta>Ata	p.L252I	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	252	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGGGCCTAGTGGCCCC	0.642																																						ENST00000323397.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(754-756)Cta>Ata		ankyrin repeat domain 34A							53.0	63.0	60.0					1																	145474082		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145474082C>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.754C>A	1.37:g.145474082C>A	ENSP00000314103:p.Leu252Ile						p.L252I	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN			4	2047	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		252			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.754C>A	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834704	0.32421	.	.	ENSG00000181039	ENST00000323397	T	0.76448	-1.02	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000016	T	0.77765	0.4179	L	0.49126	1.545	0.31274	N	0.691455	D	0.57571	0.98	D	0.73708	0.981	T	0.76192	-0.3049	10	0.59425	D	0.04	-7.7467	9.2101	0.37313	0.0:0.9037:0.0:0.0963	.	252	Q69YU3	AN34A_HUMAN	I	252	ENSP00000314103:L252I	ENSP00000314103:L252I	L	+	1	2	ANKRD34A	144185439	0.977000	0.34250	1.000000	0.80357	0.956000	0.61745	2.368000	0.44222	2.585000	0.87301	0.574000	0.79327	CTA		0.642	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			121	697	1	0	6.84403e-32	1	8.07054e-32	121	697				
LRRC14B	389257	broad.mit.edu	37	5	195268	195268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:195268C>T	ENST00000328278.3	+	2	1373	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	449										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GTTCAACCAGCAGAAATACGA	0.617																																						ENST00000328278.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						c.(1345-1347)Cag>Tag		leucine rich repeat containing 14B							105.0	118.0	113.0					5																	195268		2155	4267	6422	SO:0001587	stop_gained	389257							g.chr5:195268C>T		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1345C>T	5.37:g.195268C>T	ENSP00000327675:p.Gln449*						p.Q449*	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN			2	1373	+			449						Nonsense_Mutation	SNP	ENST00000328278.3	37	c.1345C>T	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567915	0.96540	.	.	ENSG00000185028	ENST00000328278	.	.	.	5.41	4.52	0.55395	.	0.268654	0.43110	D	0.000604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.4499	0.55671	0.0:0.6762:0.3238:0.0	.	.	.	.	X	449	.	ENSP00000327675:Q449X	Q	+	1	0	LRRC14B	248268	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.016000	0.40971	1.259000	0.44117	0.561000	0.74099	CAG		0.617	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		177	676	0	0	0	1	0	177	676				
MAP2K7	5609	broad.mit.edu	37	19	7975916	7975916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7975916G>A	ENST00000397979.3	+	7	781	c.727G>A	c.(727-729)Gac>Aac	p.D243N	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243N|MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000545011.1_Missense_Mutation_p.D285N	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CATCCACCGCGACGTCAAGCC	0.632																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(853-855)Gac>Aac		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						39.0	44.0	42.0					19																	7975916		2132	4248	6380	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975916G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.727G>A	19.37:g.7975916G>A	ENSP00000381066:p.Asp243Asn					MAP2K7_ENST00000397979.3_Missense_Mutation_p.D243N|MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243N	p.D285N			O14733	MP2K7_HUMAN			7	918	+			243			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.853G>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583767	0.96578	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97502	1.0061	10	0.87932	D	0	-9.0758	17.0918	0.86624	0.0:0.0:1.0:0.0	.	243;243	O14733-4;O14733	.;MP2K7_HUMAN	N	243;259;285;259;243	ENSP00000381068:D243N;ENSP00000381070:D259N;ENSP00000443946:D285N;ENSP00000381066:D243N	ENSP00000381066:D243N	D	+	1	0	MAP2K7	7881916	1.000000	0.71417	0.960000	0.40013	0.807000	0.45602	7.652000	0.83633	2.711000	0.92665	0.561000	0.74099	GAC		0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			51	227	0	0	0	1	0	51	227				
ADAM17	6868	broad.mit.edu	37	2	9695662	9695662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9695662C>T	ENST00000310823.3	-	1	255	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	ADAM17_ENST00000497134.1_Missense_Mutation_p.G25S|RP11-214N9.1_ENST00000607241.1_lincRNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	25					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GGGCCGAAGCCCGGGTCATCC	0.652											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(73-75)Ggc>Agc		ADAM metallopeptidase domain 17							24.0	27.0	26.0					2																	9695662		2201	4296	6497	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9695662C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.73G>A	2.37:g.9695662C>T	ENSP00000309968:p.Gly25Ser		OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	658	ADAM17_ENST00000497134.1_Missense_Mutation_p.G25S	p.G25S	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	1	255	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		25					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.73G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	3.655	-0.070722	0.07228	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.61859	2.18;0.07	4.36	2.52	0.30459	.	0.486110	0.22687	N	0.056878	T	0.35998	0.0951	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16166	0.016;0.001;0.016;0.001	B;B;B;B	0.15870	0.007;0.001;0.014;0.001	T	0.17930	-1.0353	10	0.30854	T	0.27	.	8.9281	0.35652	0.0:0.7999:0.0:0.2001	.	25;25;25;25	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	S	25	ENSP00000309968:G25S;ENSP00000418728:G25S	ENSP00000309968:G25S	G	-	1	0	ADAM17	9613113	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	1.044000	0.30329	0.585000	0.29608	-0.797000	0.03246	GGC		0.652	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			11	58	0	0	0	1	0	11	58				
GTF3C3	9330	broad.mit.edu	37	2	197631301	197631301	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197631301T>C	ENST00000263956.3	-	17	2615	c.2526A>G	c.(2524-2526)ccA>ccG	p.P842P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	842					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTACCACAAGTGGAGGGAGCT	0.448																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2524-2526)ccA>ccG		general transcription factor IIIC, polypeptide 3, 102kDa							84.0	82.0	83.0					2																	197631301		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197631301T>C	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2526A>G	2.37:g.197631301T>C							p.P842P	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			17	2615	-			842					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.2526A>G	CCDS2316.1																																																																																				0.448	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			15	400	0	0	0	1	0	15	400				
MZF1	7593	broad.mit.edu	37	19	59082669	59082669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59082669C>T	ENST00000215057.2	-	2	648	c.88G>A	c.(88-90)Gag>Aag	p.E30K	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|MZF1_ENST00000599369.1_Missense_Mutation_p.E30K|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	30					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCTCACCCTCCTCCTCAGAG	0.652																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(88-90)Gag>Aag		myeloid zinc finger 1							30.0	34.0	33.0					19																	59082669		2203	4300	6503	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59082669C>T	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.88G>A	19.37:g.59082669C>T	ENSP00000215057:p.Glu30Lys					MZF1_ENST00000599369.1_Missense_Mutation_p.E30K|MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K	p.E30K	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	2	648	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	30					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.88G>A	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	7.538	0.660115	0.14645	.	.	ENSG00000099326	ENST00000215057	T	0.07327	3.2	3.67	1.45	0.22620	.	0.426133	0.17364	N	0.176905	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.09377	0.004;0.001	T	0.45585	-0.9251	9	.	.	.	-7.2513	6.1722	0.20424	0.0:0.7625:0.0:0.2375	.	30;30	Q7Z729;P28698	.;MZF1_HUMAN	K	30	ENSP00000215057:E30K	.	E	-	1	0	MZF1	63774481	0.000000	0.05858	0.751000	0.31187	0.103000	0.19146	-0.083000	0.11286	0.514000	0.28300	0.655000	0.94253	GAG		0.652	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		35	135	0	0	0	1	0	35	135				
COL15A1	1306	broad.mit.edu	37	9	101748190	101748190	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101748190G>T	ENST00000375001.3	+	3	867	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	148	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGTCCCAAGAGGCTGCTGCCT	0.607																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(442-444)gaG>gaT		collagen, type XV, alpha 1							109.0	102.0	104.0					9																	101748190		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748190G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.444G>T	9.37:g.101748190G>T	ENSP00000364140:p.Glu148Asp						p.E148D	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	867	+		Acute lymphoblastic leukemia(62;0.0562)	148			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.444G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377008	0.42105	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73258	-0.73	5.25	2.34	0.29019	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.288347	0.37261	N	0.002174	T	0.79311	0.4424	M	0.79475	2.455	0.33746	D	0.620079	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.992	T	0.79017	-0.1975	10	0.19147	T	0.46	-12.1142	8.0718	0.30693	0.3319:0.0:0.6681:0.0	.	148;118	P39059;B3KTP7	COFA1_HUMAN;.	D	148;118	ENSP00000364140:E148D	ENSP00000364140:E148D	E	+	3	2	COL15A1	100788011	0.660000	0.27420	0.955000	0.39395	0.740000	0.42216	-0.118000	0.10692	0.280000	0.22209	0.650000	0.86243	GAG		0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		59	589	1	0	3.84483e-29	1	4.48846e-29	59	589				
OR51Q1	390061	broad.mit.edu	37	11	5444251	5444251	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5444251T>C	ENST00000300778.4	+	1	911	c.821T>C	c.(820-822)gTc>gCc	p.V274A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCACTGGTCCATGTTATC	0.473																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(820-822)gTc>gCc		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							117.0	100.0	106.0					11																	5444251		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444251T>C	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.821T>C	11.37:g.5444251T>C	ENSP00000300778:p.Val274Ala					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.V274A	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	911	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	274					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.821T>C	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843174	0.51057	.	.	ENSG00000167360	ENST00000300778	T	0.00099	8.73	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.123758	0.36444	N	0.002588	T	0.00384	0.0012	L	0.60012	1.86	0.24171	N	0.995622	D	0.89917	1.0	D	0.85130	0.997	T	0.58329	-0.7655	10	0.54805	T	0.06	.	13.606	0.62048	0.0:0.0:0.0:1.0	.	274	Q8NH59	O51Q1_HUMAN	A	274	ENSP00000300778:V274A	ENSP00000300778:V274A	V	+	2	0	OR51Q1	5400827	0.002000	0.14202	1.000000	0.80357	0.866000	0.49608	1.311000	0.33562	2.089000	0.63090	0.311000	0.20440	GTC		0.473	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		21	400	0	0	0	1	0	21	400				
TCHH	7062	broad.mit.edu	37	1	152080423	152080423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080423G>A	ENST00000368804.1	-	2	5269	c.5270C>T	c.(5269-5271)cCg>cTg	p.P1757L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1757	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCTTTCCGGACGGAGCTG	0.597																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5269-5271)cCg>cTg		trichohyalin							52.0	52.0	52.0					1																	152080423		1900	4114	6014	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080423G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5270C>T	1.37:g.152080423G>A	ENSP00000357794:p.Pro1757Leu						p.P1757L	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5269	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1757			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5270C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626138	0.46840	.	.	ENSG00000159450	ENST00000368804	T	0.04360	3.64	3.76	-0.218	0.13142	.	.	.	.	.	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48692	-0.9013	9	0.33141	T	0.24	.	1.2456	0.01972	0.2985:0.0925:0.1541:0.4549	.	1757	Q07283	TRHY_HUMAN	L	1757	ENSP00000357794:P1757L	ENSP00000357794:P1757L	P	-	2	0	TCHH	150347047	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.629000	0.05575	-0.824000	0.03097	CCG		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		22	608	0	0	0	1	0	22	608				
DVL1	1855	broad.mit.edu	37	1	1271751	1271751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271751G>A	ENST00000378888.5	-	15	2143	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	DVL1_ENST00000378891.5_Missense_Mutation_p.P595L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	620					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGCCGGCCGGACGCTCTCG	0.731																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1858-1860)cCg>cTg		dishevelled segment polarity protein 1							11.0	12.0	11.0					1																	1271751		1932	3905	5837	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271751G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1859C>T	1.37:g.1271751G>A	ENSP00000368166:p.Pro620Leu					DVL1_ENST00000378891.5_Missense_Mutation_p.P595L	p.P620L			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2143	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	620					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1859C>T		.	.	.	.	.	.	.	.	.	.	G	13.78	2.338007	0.41398	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.48	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.187522	0.47852	D	0.000217	T	0.27384	0.0672	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.977	D;P;P	0.83275	0.996;0.765;0.654	T	0.01345	-1.1379	10	0.56958	D	0.05	.	18.2311	0.89934	0.0:0.0:1.0:0.0	.	278;620;595	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	L	595;620;369;278	ENSP00000368169:P595L;ENSP00000368166:P620L	ENSP00000263743:P278L	P	-	2	0	DVL1	1261614	1.000000	0.71417	0.838000	0.33150	0.089000	0.18198	8.445000	0.90326	2.607000	0.88179	0.555000	0.69702	CCG		0.731	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		25	124	0	0	0	1	0	25	124				
WDR47	22911	broad.mit.edu	37	1	109554167	109554167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109554167C>A	ENST00000369962.3	-	5	723	c.501G>T	c.(499-501)gaG>gaT	p.E167D	WDR47_ENST00000400794.3_Missense_Mutation_p.E174D|WDR47_ENST00000357672.3_Missense_Mutation_p.E139D|WDR47_ENST00000369965.4_Missense_Mutation_p.E167D|WDR47_ENST00000361054.3_Missense_Mutation_p.E139D			O94967	WDR47_HUMAN	WD repeat domain 47	167					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGACACAAGCCTCTTCAAAAC	0.433																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(415-417)gaG>gaT		WD repeat domain 47							207.0	210.0	209.0					1																	109554167		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109554167C>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.501G>T	1.37:g.109554167C>A	ENSP00000358979:p.Glu167Asp					WDR47_ENST00000369962.3_Missense_Mutation_p.E167D|WDR47_ENST00000369965.4_Missense_Mutation_p.E167D|WDR47_ENST00000361054.3_Missense_Mutation_p.E139D|WDR47_ENST00000400794.3_Missense_Mutation_p.E174D	p.E139D			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	792	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	167					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.417G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140674	0.56936	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772	T;T;T;T;T	0.58652	0.32;0.37;0.32;0.32;0.32	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.42686	1.345	0.58432	D	0.999996	D;D;D;D	0.69078	0.99;0.997;0.997;0.99	D;D;D;D	0.73380	0.98;0.978;0.978;0.98	T	0.60576	-0.7236	10	0.45353	T	0.12	-5.7323	12.8243	0.57710	0.0:0.9149:0.0:0.0851	.	139;174;167;167	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	174;167;139;167;139;167	ENSP00000383599:E174D;ENSP00000358979:E167D;ENSP00000354339:E139D;ENSP00000358982:E167D;ENSP00000350301:E139D	ENSP00000350301:E139D	E	-	3	2	WDR47	109355690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.446000	0.44908	2.481000	0.83766	0.563000	0.77884	GAG		0.433	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		106	980	1	0	3.17287e-45	1	3.88899e-45	106	980				
ASTN1	460	broad.mit.edu	37	1	176857313	176857313	+	Missense_Mutation	SNP	G	G	T	rs141185084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176857313G>T	ENST00000367654.3	-	18	3203	c.2992C>A	c.(2992-2994)Ctc>Atc	p.L998I	ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I|ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	998					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCACCAGAGAGAGCTCATG	0.542																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2992-2994)Ctc>Atc		astrotactin 1							100.0	87.0	92.0					1																	176857313		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176857313G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2992C>A	1.37:g.176857313G>T	ENSP00000356626:p.Leu998Ile					ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I	p.L998I			O14525	ASTN1_HUMAN			18	3005	-			998					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2992C>A		.	.	.	.	.	.	.	.	.	.	G	15.82	2.947532	0.53186	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.82	5.82	0.92795	.	0.063133	0.64402	D	0.000005	T	0.25717	0.0626	N	0.17082	0.46	0.54753	D	0.999981	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.011	T	0.03374	-1.1043	10	0.45353	T	0.12	-25.1042	14.515	0.67814	0.0:0.0:0.8532:0.1468	.	990;990	O14525-2;B1AJS1	.;.	I	990;990;998;990;990	ENSP00000356629:L990I;ENSP00000354536:L990I;ENSP00000356626:L998I;ENSP00000395041:L990I	ENSP00000354536:L990I	L	-	1	0	ASTN1	175123936	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.348000	0.59379	2.744000	0.94065	0.585000	0.79938	CTC		0.542	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		47	245	1	0	2.64894e-19	1	2.95328e-19	47	245				
REPIN1	29803	broad.mit.edu	37	7	150068918	150068918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068918G>T	ENST00000425389.2	+	1	666	c.588G>T	c.(586-588)aaG>aaT	p.K196N	REPIN1_ENST00000397281.2_Missense_Mutation_p.K196N|REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	196					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGCCCACAAGCGGGTGCACG	0.746																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(586-588)aaG>aaT		replication initiator 1							10.0	12.0	11.0					7																	150068918		1869	4077	5946	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068918G>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.588G>T	7.37:g.150068918G>T	ENSP00000388287:p.Lys196Asn					REPIN1_ENST00000425389.2_Missense_Mutation_p.K196N|REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA	p.K196N	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1077	+	Ovarian(565;0.183)|Melanoma(164;0.226)		196					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.588G>T	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885139	0.51908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.55	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57198	0.2037	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.969;0.998	T	0.57522	-0.7797	9	0.72032	D	0.01	-15.9773	5.0126	0.14321	0.1943:0.1741:0.6316:0.0	.	253;196	C9J3L7;Q9BWE0	.;REPI1_HUMAN	N	196;196;196;253;255;256;196	ENSP00000445016:K196N;ENSP00000380451:K196N;ENSP00000407714:K196N;ENSP00000417291:K253N;ENSP00000419789:K255N;ENSP00000419872:K256N;ENSP00000388287:K196N	ENSP00000380451:K196N	K	+	3	2	REPIN1	149699851	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.987000	0.40687	1.131000	0.42111	0.462000	0.41574	AAG		0.746	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		7	102	1	0	2.0095e-06	1	2.07161e-06	7	102				
PQLC1	80148	broad.mit.edu	37	18	77679208	77679208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77679208C>T	ENST00000397778.2	-	5	766	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PQLC1_ENST00000409073.1_Missense_Mutation_p.R112H|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	195	PQ-loop 2.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGACTGGTGGCGGTGGTTGCG	0.602																																						ENST00000397778.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(583-585)cGc>cAc		PQ loop repeat containing 1							59.0	57.0	58.0					18																	77679208		2203	4299	6502	SO:0001583	missense	80148					integral to membrane		g.chr18:77679208C>T	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.584G>A	18.37:g.77679208C>T	ENSP00000380880:p.Arg195His					PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000409073.1_Missense_Mutation_p.R112H	p.R195H	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	5	766	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	195			PQ-loop 2.		B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.584G>A	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533771	0.45073	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	D;D;D	0.98762	-5.12;-5.12;-5.12	5.1	0.718	0.18202	.	0.270350	0.37577	N	0.002023	D	0.95796	0.8632	L	0.53617	1.68	0.31935	N	0.611672	B;B	0.15473	0.013;0.005	B;B	0.14578	0.011;0.008	D	0.92252	0.5809	10	0.49607	T	0.09	-11.2406	2.861	0.05586	0.2073:0.3046:0.0:0.4881	.	195;177	Q8N2U9;G5E989	PQLC1_HUMAN;.	H	195;112;177	ENSP00000380880:R195H;ENSP00000387221:R112H;ENSP00000350188:R177H	ENSP00000350188:R177H	R	-	2	0	PQLC1	75780196	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	1.270000	0.33086	0.552000	0.29026	0.655000	0.94253	CGC		0.602	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		42	192	0	0	0	1	0	42	192				
MAFF	23764	broad.mit.edu	37	22	38610560	38610560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610560G>A	ENST00000338483.2	+	3	532	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MAFF_ENST00000538320.1_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000426621.2_Missense_Mutation_p.R57H|MAFF_ENST00000407965.1_Missense_Mutation_p.R57H			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	57	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					CAGCGGCGCCGCACACTCAAA	0.682																																						ENST00000338483.2																			0				lung(2)|skin(1)	3						c.(169-171)cGc>cAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F							12.0	13.0	13.0					22																	38610560		2200	4290	6490	SO:0001583	missense	23764				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:38610560G>A	AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.170G>A	22.37:g.38610560G>A	ENSP00000345393:p.Arg57His					MAFF_ENST00000538320.1_Missense_Mutation_p.R57H|MAFF_ENST00000407965.1_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000426621.2_Missense_Mutation_p.R57H	p.R57H			Q9ULX9	MAFF_HUMAN			3	532	+	Melanoma(58;0.045)		57					B4DV49|Q9Y525	Missense_Mutation	SNP	ENST00000338483.2	37	c.170G>A	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570085	0.96540	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	3.92	3.92	0.45320	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99811	1.1041	10	0.87932	D	0	-9.8937	15.9272	0.79628	0.0:0.0:1.0:0.0	.	57	Q9ULX9	MAFF_HUMAN	H	57;57;28;28;57;57;57	ENSP00000345393:R57H;ENSP00000442060:R57H;ENSP00000441482:R28H;ENSP00000391589:R28H;ENSP00000416493:R57H;ENSP00000388882:R57H;ENSP00000384094:R57H	ENSP00000345393:R57H	R	+	2	0	MAFF	36940506	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.670000	0.98625	1.719000	0.51432	0.455000	0.32223	CGC		0.682	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	NM_001161572		21	77	0	0	0	1	0	21	77				
TTC7B	145567	broad.mit.edu	37	14	91211192	91211192	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91211192T>G	ENST00000328459.6	-	4	641	c.520A>C	c.(520-522)Acc>Ccc	p.T174P	TTC7B_ENST00000357056.2_Missense_Mutation_p.T174P	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	174										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCATAACAGGTGATGACATCC	0.428																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(520-522)Acc>Ccc		tetratricopeptide repeat domain 7B							152.0	135.0	141.0					14																	91211192		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91211192T>G	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.520A>C	14.37:g.91211192T>G	ENSP00000336127:p.Thr174Pro					TTC7B_ENST00000328459.6_Missense_Mutation_p.T174P	p.T174P			Q86TV6	TTC7B_HUMAN			4	641	-		Melanoma(154;0.222)	174					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.520A>C	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493788	0.84962	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.37752	1.86;1.18	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.52573	1.65	0.58432	D	0.999998	P	0.43094	0.799	B	0.36504	0.226	T	0.08411	-1.0723	10	0.29301	T	0.29	-31.152	14.9498	0.71064	0.0:0.0:0.0:1.0	.	174	Q86TV6	TTC7B_HUMAN	P	72;174;174;72	ENSP00000349564:T174P;ENSP00000336127:T174P	ENSP00000336127:T174P	T	-	1	0	TTC7B	90280945	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.850000	0.62889	2.231000	0.72958	0.460000	0.39030	ACC		0.428	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			22	486	0	0	0	1	0	22	486				
DGKI	9162	broad.mit.edu	37	7	137269963	137269963	+	Missense_Mutation	SNP	C	C	T	rs111722170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137269963C>T	ENST00000288490.5	-	14	1555	c.1555G>A	c.(1555-1557)Gta>Ata	p.V519I	DGKI_ENST00000446122.1_Missense_Mutation_p.V519I|DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000453654.2_Missense_Mutation_p.V219I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	519					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCTTACATACGCCATCTTCA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18956	0.0		0.0	False		,,,				2504	0.0					ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(655-657)Gta>Ata		diacylglycerol kinase, iota							138.0	131.0	133.0					7																	137269963		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137269963C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1555G>A	7.37:g.137269963C>T	ENSP00000288490:p.Val519Ile					DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000288490.5_Missense_Mutation_p.V519I|DGKI_ENST00000446122.1_Missense_Mutation_p.V519I	p.V219I			O75912	DGKI_HUMAN			14	1194	-			519					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.655G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927886	0.52759	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.41400	1.0;1.0;1.0	6.07	6.07	0.98685	.	0.403557	0.24417	N	0.038709	T	0.26085	0.0636	N	0.14661	0.345	0.27813	N	0.942071	B;B	0.26318	0.004;0.146	B;B	0.12156	0.004;0.007	T	0.12218	-1.0556	10	0.35671	T	0.21	.	12.7183	0.57127	0.0:0.9243:0.0:0.0757	.	219;519	E9PFX6;O75912	.;DGKI_HUMAN	I	219;467;519;519;519	ENSP00000392161:V219I;ENSP00000288490:V519I;ENSP00000399131:V519I	ENSP00000288490:V519I	V	-	1	0	DGKI	136920503	0.983000	0.35010	0.997000	0.53966	0.995000	0.86356	1.830000	0.39131	2.885000	0.99019	0.655000	0.94253	GTA		0.483	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		84	425	0	0	0	1	0	84	425				
RACGAP1	29127	broad.mit.edu	37	12	50399109	50399109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50399109C>T	ENST00000427314.2	-	6	578	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000434422.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTTTGCTCCTCGCTTAGTTGA	0.448																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(355-357)Gag>Aag		Rac GTPase activating protein 1							134.0	115.0	121.0					12																	50399109		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50399109C>T		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.355G>A	12.37:g.50399109C>T	ENSP00000404190:p.Glu119Lys					RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000427314.2_Missense_Mutation_p.E119K	p.E119K			Q9H0H5	RGAP1_HUMAN			5	656	-			119			Interaction with SLC26A8.			Missense_Mutation	SNP	ENST00000427314.2	37	c.355G>A	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084094	0.94100	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000552157;ENST00000548247;ENST00000546764;ENST00000551876;ENST00000549777	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-0.52;-0.52	6.17	6.17	0.99709	.	0.203855	0.53938	D	0.000054	D	0.85071	0.5613	M	0.66939	2.045	0.80722	D	1	D	0.63046	0.992	P	0.49226	0.603	D	0.85688	0.1305	10	0.72032	D	0.01	-14.897	20.8794	0.99867	0.0:1.0:0.0:0.0	.	119	Q9H0H5	RGAP1_HUMAN	K	119;119;119;119;119;119;119;45;45;61;61;119;131;119;119;61;45;119;119;119	ENSP00000404190:E119K;ENSP00000309871:E119K;ENSP00000413241:E119K;ENSP00000404808:E119K;ENSP00000449374:E119K;ENSP00000449370:E119K;ENSP00000448697:E119K;ENSP00000446642:E45K;ENSP00000447429:E45K;ENSP00000449963:E61K;ENSP00000450064:E61K;ENSP00000449170:E119K;ENSP00000449620:E131K;ENSP00000449669:E119K;ENSP00000447393:E119K;ENSP00000448968:E61K;ENSP00000447177:E119K;ENSP00000449186:E119K;ENSP00000448707:E119K	ENSP00000309871:E119K	E	-	1	0	RACGAP1	48685376	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.448	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		63	301	0	0	0	1	0	63	301				
CUX2	23316	broad.mit.edu	37	12	111785782	111785782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111785782C>T	ENST00000261726.6	+	22	4268	c.4114C>T	c.(4114-4116)Cga>Tga	p.R1372*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1372	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCGGGGAGCGACTTCACCC	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4114-4116)Cga>Tga		cut-like homeobox 2							57.0	68.0	65.0					12																	111785782		1995	4167	6162	SO:0001587	stop_gained	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785782C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4114C>T	12.37:g.111785782C>T	ENSP00000261726:p.Arg1372*						p.R1372*	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4268	+			1372			Pro-rich.		A7E2Y4	Nonsense_Mutation	SNP	ENST00000261726.6	37	c.4114C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	39	7.352241	0.98231	.	.	ENSG00000111249	ENST00000261726	.	.	.	5.44	2.58	0.30949	.	0.320397	0.32769	N	0.005676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-5.2563	8.7956	0.34876	0.2665:0.6619:0.0:0.0716	.	.	.	.	X	1372	.	ENSP00000261726:R1372X	R	+	1	2	CUX2	110270165	0.999000	0.42202	0.245000	0.24217	0.302000	0.27658	1.873000	0.39558	0.248000	0.21435	0.557000	0.71058	CGA		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		30	700	0	0	0	1	0	30	700				
ZAN	7455	broad.mit.edu	37	7	100369522	100369522	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100369522C>T	ENST00000348028.3	+	0	5469				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGCCAGTTGCGTGCATGGTC	0.657																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							56.0	60.0	59.0					7																	100369522		2148	4253	6401			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369522C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369522C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5452	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		45	195	0	0	0	1	0	45	195				
ZNF329	79673	broad.mit.edu	37	19	58639295	58639295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639295G>T	ENST00000598312.1	-	4	1809	c.1576C>A	c.(1576-1578)Ctt>Att	p.L526I	ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGTCGAACAAGGGATGAGCTC	0.512																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(1576-1578)Ctt>Att		zinc finger protein 329							189.0	165.0	173.0					19																	58639295		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639295G>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1576C>A	19.37:g.58639295G>T	ENSP00000470008:p.Leu526Ile					ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	p.L526I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1809	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	526					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1576C>A	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479140	0.44044	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.74947	-0.89;-0.89	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34828	N	0.003647	D	0.86855	0.6033	M	0.90650	3.135	0.21984	N	0.999434	D	0.76494	0.999	D	0.81914	0.995	T	0.78846	-0.2043	10	0.87932	D	0	-12.963	10.724	0.46057	0.0923:0.0:0.9077:0.0	.	526	Q86UD4	ZN329_HUMAN	I	526	ENSP00000350773:L526I;ENSP00000439527:L526I	ENSP00000350773:L526I	L	-	1	0	ZNF329	63331107	1.000000	0.71417	0.886000	0.34754	0.354000	0.29330	4.611000	0.61162	2.717000	0.92951	0.655000	0.94253	CTT		0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		105	519	1	0	6.51881e-58	1	8.16781e-58	105	519				
SLC29A4	222962	broad.mit.edu	37	7	5330411	5330411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5330411C>T	ENST00000396872.3	+	3	379	c.218C>T	c.(217-219)gCg>gTg	p.A73V	SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	73					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	ATCTACTTTGCGATGCTGCTG	0.592																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(217-219)gCg>gTg		solute carrier family 29 (equilibrative nucleoside transporter), member 4							109.0	81.0	90.0					7																	5330411		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330411C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.218C>T	7.37:g.5330411C>T	ENSP00000380081:p.Ala73Val					SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V	p.A73V	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	3	379	+		Ovarian(82;0.0175)	73					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.218C>T	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837993	0.91117	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.09	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.48175	-0.9058	10	0.39692	T	0.17	-21.0558	14.5557	0.68100	0.0:1.0:0.0:0.0	.	73;73	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	V	73	ENSP00000406803:A73V;ENSP00000380081:A73V;ENSP00000413271:A73V;ENSP00000297195:A73V;ENSP00000385845:A73V	ENSP00000297195:A73V	A	+	2	0	SLC29A4	5296937	1.000000	0.71417	0.945000	0.38365	0.936000	0.57629	7.015000	0.76387	1.834000	0.53371	0.556000	0.70494	GCG		0.592	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		7	317	0	0	0	1	0	7	317				
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000274203.9_Silent_p.I1369I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000505695.1_Silent_p.I1351I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.I2012I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478																																						ENST00000513610.1																			1	Substitution - coding silent(1)	p.I2012I(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(6034-6036)atC>atT		myosin X							151.0	154.0	153.0					5																	16668425		2008	4173	6181	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16668425G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6036C>T	5.37:g.16668425G>A						MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000274203.9_Silent_p.I1369I	p.I2012I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			40	6490	-			2012			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.6036C>T	CCDS54834.1																																																																																				0.478	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		87	555	0	0	0	1	0	87	555				
C1QC	714	broad.mit.edu	37	1	22974234	22974234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22974234C>T	ENST00000374639.3	+	3	814	c.696C>T	c.(694-696)ggC>ggT	p.G232G	C1QC_ENST00000374640.4_Silent_p.G232G|C1QC_ENST00000374637.1_Silent_p.G232G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	232	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCATCCAGGGCTCTGACAGCG	0.637																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(694-696)ggC>ggT		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						96.0	95.0	95.0					1																	22974234		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22974234C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.696C>T	1.37:g.22974234C>T						C1QC_ENST00000374640.4_Silent_p.G232G|C1QC_ENST00000374637.1_Silent_p.G232G	p.G232G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	814	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	232			C1q.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.696C>T	CCDS227.1																																																																																				0.637	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		8	420	0	0	0	1	0	8	420				
ADPGK	83440	broad.mit.edu	37	15	73045191	73045191	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73045191G>A	ENST00000311669.8	-	7	1075	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Silent_p.L54L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	329	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						AGAAATAACAGCTCCTGTTCA	0.493																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(982-984)Ctg>Ttg		ADP-dependent glucokinase							54.0	53.0	54.0					15																	73045191		1957	4147	6104	SO:0001819	synonymous_variant	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045191G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.982C>T	15.37:g.73045191G>A						ADPGK_ENST00000456471.2_Silent_p.L54L	p.L328L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1075	-			329			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Silent	SNP	ENST00000311669.8	37	c.982C>T	CCDS42057.1																																																																																				0.493	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		63	225	0	0	0	1	0	63	225				
GPANK1	7918	broad.mit.edu	37	6	31630466	31630466	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31630466C>T	ENST00000375906.1	-	4	1332	c.648G>A	c.(646-648)caG>caA	p.Q216Q	C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375893.2_Silent_p.Q216Q|CSNK2B_ENST00000375885.4_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375895.2_Silent_p.Q216Q|GPANK1_ENST00000375900.4_Silent_p.Q216Q|GPANK1_ENST00000375896.4_Silent_p.Q216Q|C6orf47_ENST00000375911.1_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	216							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TCTCGCAGTACTGGAGGGAGG	0.567																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(646-648)caG>caA		G patch domain and ankyrin repeats 1							53.0	60.0	57.0					6																	31630466		1510	2698	4208	SO:0001819	synonymous_variant	7918					intracellular	nucleic acid binding	g.chr6:31630466C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.648G>A	6.37:g.31630466C>T						GPANK1_ENST00000375893.2_Silent_p.Q216Q|GPANK1_ENST00000375896.4_Silent_p.Q216Q|GPANK1_ENST00000375900.4_Silent_p.Q216Q|GPANK1_ENST00000375895.2_Silent_p.Q216Q	p.Q216Q	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			4	1332	-			216					A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	c.648G>A	CCDS4711.1																																																																																				0.567	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		58	250	0	0	0	1	0	58	250				
GPR133	283383	broad.mit.edu	37	12	131561384	131561384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131561384C>T	ENST00000261654.5	+	14	2071	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	GPR133_ENST00000535015.1_Silent_p.N536N|GPR133_ENST00000376682.4_Silent_p.N190N|GPR133_ENST00000543617.1_Silent_p.N23N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	504					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCAGCAACCGAGTCTTCG	0.582																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1510-1512)aaC>aaT		G protein-coupled receptor 133							207.0	161.0	176.0					12																	131561384		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131561384C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1512C>T	12.37:g.131561384C>T						GPR133_ENST00000543617.1_Silent_p.N23N|GPR133_ENST00000535015.1_Silent_p.N536N|GPR133_ENST00000376682.4_Silent_p.N190N	p.N504N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	14	2071	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		504					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1512C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644332	0.03531	.	.	ENSG00000111452	ENST00000335486	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67921	-0.5545	4	.	.	.	.	13.4585	0.61212	0.0:1.0:0.0:0.0	.	.	.	.	I	26	.	.	T	+	2	0	GPR133	130127337	0.921000	0.31238	0.598000	0.28837	0.110000	0.19582	1.420000	0.34804	1.848000	0.53677	0.491000	0.48974	ACC		0.582	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		72	426	0	0	0	1	0	72	426				
ING2	3622	broad.mit.edu	37	4	184431723	184431723	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184431723G>T	ENST00000302327.3	+	2	663	c.461G>T	c.(460-462)aGg>aTg	p.R154M	ING2_ENST00000434682.2_Missense_Mutation_p.R114M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	154					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGACCCCGCAGGCAGCGGACC	0.463																																						ENST00000302327.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(460-462)aGg>aTg		inhibitor of growth family, member 2							56.0	59.0	58.0					4																	184431723		2203	4300	6503	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431723G>T	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.461G>T	4.37:g.184431723G>T	ENSP00000307183:p.Arg154Met					ING2_ENST00000434682.2_Missense_Mutation_p.R114M	p.R154M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	663	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	154					B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.461G>T	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937902	0.73557	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	.	0.211158	0.45867	D	0.000337	T	0.78941	0.4363	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.76494	0.999;0.998	D;P	0.77557	0.99;0.819	T	0.78871	-0.2033	9	0.62326	D	0.03	-2.902	19.6941	0.96016	0.0:0.0:1.0:0.0	.	114;154	B6ZDS1;Q9H160	.;ING2_HUMAN	M	154;114;114	.	ENSP00000307183:R154M	R	+	2	0	ING2	184668717	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	AGG		0.463	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		49	208	1	0	6.42738e-09	1	6.74027e-09	49	208				
OR8J3	81168	broad.mit.edu	37	11	55905003	55905003	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55905003T>A	ENST00000301529.1	-	1	191	c.192A>T	c.(190-192)agA>agT	p.R64S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGCTAGATGTCTCAGGAAAA	0.433																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(190-192)agA>agT		olfactory receptor, family 8, subfamily J, member 3							143.0	139.0	140.0					11																	55905003		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905003T>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.192A>T	11.37:g.55905003T>A	ENSP00000301529:p.Arg64Ser						p.R64S	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	191	-	Esophageal squamous(21;0.00693)		64					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.192A>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	2.806	-0.248077	0.05867	.	.	ENSG00000167822	ENST00000301529	T	0.01051	5.4	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00608	0.0020	N	0.12887	0.27	0.09310	N	1	B	0.27117	0.168	B	0.38842	0.283	T	0.45175	-0.9279	10	0.02654	T	1	.	2.4217	0.04449	0.1025:0.2904:0.3208:0.2863	.	64	Q8NGG0	OR8J3_HUMAN	S	64	ENSP00000301529:R64S	ENSP00000301529:R64S	R	-	3	2	OR8J3	55661579	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.356000	0.02609	-0.934000	0.03733	0.240000	0.17902	AGA		0.433	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		136	563	0	0	0	1	0	136	563				
CCL3	6348	broad.mit.edu	37	17	34416585	34416585	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34416585C>A	ENST00000225245.5	-	2	214	c.132G>T	c.(130-132)caG>caT	p.Q44H	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	44					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTATGAAATTCTGTGGAATCT	0.552																																						ENST00000225245.5																			0				breast(2)|lung(3)|urinary_tract(1)	6						c.(130-132)caG>caT		chemokine (C-C motif) ligand 3							151.0	156.0	154.0					17																	34416585		2203	4297	6500	SO:0001583	missense	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416585C>A	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.132G>T	17.37:g.34416585C>A	ENSP00000225245:p.Gln44His					AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA	p.Q44H	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	214	-		Ovarian(249;0.17)	44						Missense_Mutation	SNP	ENST00000225245.5	37	c.132G>T	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023500	0.54683	.	.	ENSG00000006075	ENST00000225245	T	0.04917	3.53	5.4	-7.67	0.01272	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.283240	0.04979	N	0.465208	T	0.04634	0.0126	.	.	.	0.09310	N	1	P	0.41710	0.76	P	0.48598	0.583	T	0.36286	-0.9754	9	0.15499	T	0.54	.	0.8445	0.01158	0.2082:0.2022:0.1744:0.4152	.	44	P10147	CCL3_HUMAN	H	44	ENSP00000225245:Q44H	ENSP00000225245:Q44H	Q	-	3	2	CCL3	31440698	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.603000	0.05674	-1.016000	0.03371	-0.948000	0.02665	CAG		0.552	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		108	528	1	0	1.93806e-58	1	2.4311e-58	108	528				
DNAJA4	55466	broad.mit.edu	37	15	78557118	78557118	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78557118A>G	ENST00000394852.3	+	1	203	c.13A>G	c.(13-15)Acc>Gcc	p.T5A	RP11-762H8.3_ENST00000559954.1_RNA|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A|DNAJA4_ENST00000394855.3_Missense_Mutation_p.T34A|DNAJA4_ENST00000343789.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000446172.2_5'Flank|RP11-762H8.3_ENST00000558971.1_RNA	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	5	J.				negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GGTGAAGGAGACCCAGTACTA	0.697																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(100-102)Acc>Gcc		DnaJ (Hsp40) homolog, subfamily A, member 4							29.0	26.0	27.0					15																	78557118		2196	4293	6489	SO:0001583	missense	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78557118A>G	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.13A>G	15.37:g.78557118A>G	ENSP00000378321:p.Thr5Ala					DNAJA4_ENST00000343789.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000394852.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A	p.T34A	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			2	328	+			5			J.		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.100A>G	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760177	0.49468	.	.	ENSG00000140403	ENST00000394855;ENST00000489435;ENST00000343789;ENST00000394852	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.65	4.65	0.58169	Heat shock protein DnaJ, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	N	0.25485	0.75	0.80722	D	1	D;D	0.71674	0.998;0.995	P;D	0.67725	0.858;0.953	T	0.74734	-0.3565	10	0.72032	D	0.01	-13.9376	9.8993	0.41338	0.8476:0.0:0.0:0.1524	.	5;34	Q8WW22;Q8WW22-2	DNJA4_HUMAN;.	A	34;34;5;5	ENSP00000378324:T34A;ENSP00000438263:T34A;ENSP00000339581:T5A;ENSP00000378321:T5A	ENSP00000339581:T5A	T	+	1	0	DNAJA4	76344173	1.000000	0.71417	0.825000	0.32803	0.009000	0.06853	6.644000	0.74338	1.739000	0.51704	0.455000	0.32223	ACC		0.697	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		10	59	0	0	0	1	0	10	59				
SEMA3B	7869	broad.mit.edu	37	3	50313010	50313010	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50313010G>A	ENST00000418948.1	+	0	1903							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGGCAAGACGTAAGGAATGG	0.662																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							65.0	79.0	75.0					3																	50313010		2028	4176	6204			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50313010G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50313010G>A										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1903	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	G	11.40	1.628796	0.28978	.	.	ENSG00000012171	ENST00000316347	.	.	.	4.78	-0.282	0.12878	.	0.193005	0.44285	N	0.000473	T	0.24314	0.0589	.	.	.	.	.	.	B;B;B;B	0.18166	0.018;0.026;0.018;0.012	B;B;B;B	0.23150	0.011;0.044;0.011;0.012	T	0.35201	-0.9798	7	0.08837	T	0.75	.	8.4845	0.33063	0.4372:0.0:0.5628:0.0	.	556;306;556;557	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	I	556	.	ENSP00000446262:V556I	V	+	1	0	SEMA3B	50288014	0.465000	0.25815	0.103000	0.21229	0.987000	0.75469	0.713000	0.25794	-0.291000	0.09012	0.514000	0.50259	GTA		0.662	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		90	491	0	0	0	1	0	90	491				
ALPI	248	broad.mit.edu	37	2	233321075	233321075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321075G>A	ENST00000295463.3	+	2	161	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	28					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGAGAACCCGGCCTTCTGGA	0.622																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(82-84)ccG>ccA		alkaline phosphatase, intestinal							64.0	69.0	67.0					2																	233321075		2203	4300	6503	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321075G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.84G>A	2.37:g.233321075G>A							p.P28P	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	2	161	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	28					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.84G>A	CCDS2492.1																																																																																				0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		64	343	0	0	0	1	0	64	343				
ABCA9	10350	broad.mit.edu	37	17	67020491	67020491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67020491C>T	ENST00000340001.4	-	17	2356	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	ABCA9_ENST00000453985.2_Silent_p.L715L|ABCA9_ENST00000370732.2_Silent_p.L715L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	715	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATTCAGATGCAAACTAACAT	0.303																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2143-2145)ttG>ttA		ATP-binding cassette, sub-family A (ABC1), member 9							34.0	30.0	31.0					17																	67020491		2201	4295	6496	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67020491C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2145G>A	17.37:g.67020491C>T						ABCA9_ENST00000453985.2_Silent_p.L715L|ABCA9_ENST00000370732.2_Silent_p.L715L	p.L715L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			17	2356	-	Breast(10;1.47e-12)		715			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.2145G>A	CCDS11681.1																																																																																				0.303	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		13	83	0	0	0	1	0	13	83				
LGALS8	3964	broad.mit.edu	37	1	236706282	236706282	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236706282C>T	ENST00000366584.4	+	7	1115				LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000416919.2_Missense_Mutation_p.S147L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000525042.1_Missense_Mutation_p.S147L|LGALS8_ENST00000526589.1_Missense_Mutation_p.S206L|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000450372.2_Missense_Mutation_p.S206L|LGALS8_ENST00000527974.1_Missense_Mutation_p.S206L|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.S206L	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8						plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCAAAGATTCGACTGTCAAT	0.378																																						ENST00000526589.1																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(616-618)tCg>tTg		lectin, galactoside-binding, soluble, 8							119.0	113.0	115.0					1																	236706282		2203	4300	6503	SO:0001627	intron_variant	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236706282C>T	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.549+195C>T	1.37:g.236706282C>T						LGALS8_ENST00000527974.1_Missense_Mutation_p.S206L|LGALS8_ENST00000416919.2_Missense_Mutation_p.S147L|LGALS8_ENST00000525042.1_Missense_Mutation_p.S147L|LGALS8_ENST00000352231.2_Missense_Mutation_p.S206L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000450372.2_Missense_Mutation_p.S206L|LGALS8_ENST00000323938.6_Intron	p.S206L			O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		11	1137	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	183			Galectin 2.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.617C>T	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	C	4.511	0.094836	0.08681	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000450372;ENST00000416919;ENST00000525042	T;T;T;T;T;T;T	0.05925	3.68;3.68;3.37;3.68;3.68;3.61;3.61	4.36	3.45	0.39498	.	0.716365	0.13239	N	0.402993	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	P;B	0.47350	0.894;0.007	B;B	0.37239	0.244;0.003	T	0.33369	-0.9871	10	0.11182	T	0.66	.	8.3519	0.32307	0.0:0.8947:0.0:0.1053	.	147;206	F6V2D4;O00214-2	.;.	L	206;206;206;206;206;147;147	ENSP00000431398:S206L;ENSP00000309576:S206L;ENSP00000385999:S206L;ENSP00000435460:S206L;ENSP00000408657:S206L;ENSP00000410843:S147L;ENSP00000431884:S147L	ENSP00000309576:S206L	S	+	2	0	LGALS8	234772905	0.011000	0.17503	0.089000	0.20774	0.706000	0.40770	1.002000	0.29796	1.438000	0.47492	0.655000	0.94253	TCG		0.378	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		96	331	0	0	0	1	0	96	331				
CNGB1	1258	broad.mit.edu	37	16	57957180	57957180	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57957180G>T	ENST00000251102.8	-	18	1700	c.1640C>A	c.(1639-1641)aCt>aAt	p.T547N	CNGB1_ENST00000564448.1_Missense_Mutation_p.T541N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	547					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTCACTCAGTGTCCTTCGG	0.582																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1621-1623)aCt>aAt		cyclic nucleotide gated channel beta 1							49.0	51.0	50.0					16																	57957180		1885	4109	5994	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57957180G>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1640C>A	16.37:g.57957180G>T	ENSP00000251102:p.Thr547Asn					CNGB1_ENST00000251102.8_Missense_Mutation_p.T547N	p.T541N			Q14028	CNGB1_HUMAN			18	1682	-			547					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1622C>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697899	0.48307	.	.	ENSG00000070729	ENST00000251102	T	0.29397	1.57	4.97	1.69	0.24217	.	0.655524	0.13615	N	0.374836	T	0.34048	0.0884	L	0.57536	1.79	0.09310	N	0.999999	D	0.58970	0.984	P	0.52672	0.706	T	0.12451	-1.0547	10	0.27785	T	0.31	.	3.9819	0.09498	0.1996:0.0:0.6032:0.1972	.	547	Q14028	CNGB1_HUMAN	N	547	ENSP00000251102:T547N	ENSP00000251102:T547N	T	-	2	0	CNGB1	56514681	0.012000	0.17670	0.616000	0.29078	0.522000	0.34438	1.527000	0.35975	0.681000	0.31386	0.655000	0.94253	ACT		0.582	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		36	243	1	0	1.04352e-10	1	1.10821e-10	36	243				
PADI3	51702	broad.mit.edu	37	1	17597649	17597649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17597649G>T	ENST00000375460.3	+	9	1063	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	341					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACAGGCCGAGAACCGCAACG	0.627																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1021-1023)gaG>gaT		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						45.0	42.0	43.0					1																	17597649		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17597649G>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1023G>T	1.37:g.17597649G>T	ENSP00000364609:p.Glu341Asp						p.E341D	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	9	1063	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	341					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1023G>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593350	0.28357	.	.	ENSG00000142619	ENST00000375460	T	0.25749	1.78	5.35	2.39	0.29439	Protein-arginine deiminase, C-terminal (1);	0.157632	0.56097	D	0.000028	T	0.22085	0.0532	M	0.67397	2.05	0.36617	D	0.875516	B	0.27316	0.175	B	0.27887	0.084	T	0.11324	-1.0592	10	0.15952	T	0.53	-29.1634	6.0443	0.19752	0.0749:0.1355:0.6491:0.1405	.	341	Q9ULW8	PADI3_HUMAN	D	341	ENSP00000364609:E341D	ENSP00000364609:E341D	E	+	3	2	PADI3	17470236	1.000000	0.71417	0.959000	0.39883	0.776000	0.43924	2.966000	0.49208	0.229000	0.21039	0.655000	0.94253	GAG		0.627	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			10	181	1	0	1.58986e-06	1	1.64048e-06	10	181				
COG6	57511	broad.mit.edu	37	13	40235011	40235011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:40235011G>A	ENST00000455146.3	+	3	412	c.362G>A	c.(361-363)cGc>cAc	p.R121H	COG6_ENST00000416691.1_Missense_Mutation_p.R121H	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	121					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATGACAAGTCGCCTACAGGTA	0.313																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(361-363)cGc>cAc		component of oligomeric golgi complex 6							94.0	92.0	93.0					13																	40235011		2203	4299	6502	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40235011G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.362G>A	13.37:g.40235011G>A	ENSP00000397441:p.Arg121His					COG6_ENST00000455146.3_Missense_Mutation_p.R121H	p.R121H	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	3	462	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	121					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.362G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557490	0.27827	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.53857	0.6;0.6;0.6	5.65	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.39147	1.195	0.80722	D	1	P;B	0.43024	0.798;0.3	B;B	0.36608	0.229;0.066	T	0.09250	-1.0683	10	0.17369	T	0.5	-8.4541	11.09	0.48110	0.1504:0.0:0.8496:0.0	.	142;121	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	H	121;152;121;121	ENSP00000403733:R121H;ENSP00000412877:R121H;ENSP00000397441:R121H	ENSP00000255468:R152H	R	+	2	0	COG6	39133011	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	7.110000	0.77069	0.745000	0.32763	0.655000	0.94253	CGC		0.313	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			8	267	0	0	0	1	0	8	267				
ACSF3	197322	broad.mit.edu	37	16	89167347	89167347	+	Silent	SNP	C	C	T	rs560101290		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167347C>T	ENST00000317447.4	+	3	635	c.258C>T	c.(256-258)tgC>tgT	p.C86C	ACSF3_ENST00000406948.3_Silent_p.C86C|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	86					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGGCTCTGCGGGTGTGTCG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		15196	0.0		0.0	False		,,,				2504	0.001					ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(256-258)tgC>tgT		acyl-CoA synthetase family member 3							43.0	44.0	44.0					16																	89167347		2198	4299	6497	SO:0001819	synonymous_variant	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167347C>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.258C>T	16.37:g.89167347C>T						ACSF3_ENST00000406948.3_Silent_p.C86C|ACSF3_ENST00000378345.4_Intron	p.C86C	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	635	+			86					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	37	c.258C>T	CCDS10974.1																																																																																				0.642	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		24	359	0	0	0	1	0	24	359				
PER2	8864	broad.mit.edu	37	2	239159221	239159221	+	Silent	SNP	G	G	A	rs140643763	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239159221G>A	ENST00000254657.3	-	21	3717	c.3438C>T	c.(3436-3438)agC>agT	p.S1146S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1146					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCATCATGACGCTGCTGTCCG	0.532													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20545	0.0		0.0	False		,,,				2504	0.0					ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3436-3438)agC>agT		period circadian clock 2		G		5,4401	11.4+/-27.6	0,5,2198	154.0	123.0	134.0		3438	-6.9	0.0	2	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	PER2	NM_022817.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		1146/1256	239159221	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239159221G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3438C>T	2.37:g.239159221G>A						PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	p.S1146S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	21	3717	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1146					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.3438C>T	CCDS2528.1																																																																																				0.532	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		5	120	0	0	0	1	0	5	120				
LEPR	3953	broad.mit.edu	37	1	66081902	66081902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66081902G>T	ENST00000349533.6	+	15	2392	c.2207G>T	c.(2206-2208)aGc>aTc	p.S736I	LEPR_ENST00000371060.3_Missense_Mutation_p.S736I|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I|LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGCCTATGAGCAAAGGTAAG	0.373																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2206-2208)aGc>aTc		leptin receptor							104.0	100.0	101.0					1																	66081902		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66081902G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2207G>T	1.37:g.66081902G>T	ENSP00000330393:p.Ser736Ile					LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I|LEPR_ENST00000371060.3_Missense_Mutation_p.S736I	p.S736I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	15	2392	+			736			Fibronectin type-III 4.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2207G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929212	0.73327	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.5	4.59	0.56863	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (2);	0.272849	0.47455	D	0.000238	T	0.64918	0.2642	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.71751	-0.4498	10	0.87932	D	0	-5.7801	14.3195	0.66476	0.0717:0.0:0.9283:0.0	.	736;736;736	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	I	736	ENSP00000340884:S736I;ENSP00000330393:S736I;ENSP00000360099:S736I;ENSP00000360098:S736I;ENSP00000360097:S736I	ENSP00000340884:S736I	S	+	2	0	LEPR	65854490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.916000	0.56416	1.317000	0.45149	-0.140000	0.14226	AGC		0.373	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		7	174	1	0	0.0293803	1	0.0294705	7	174				
CUL7	9820	broad.mit.edu	37	6	43020447	43020447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43020447C>T	ENST00000265348.3	-	2	165	c.80G>A	c.(79-81)cGc>cAc	p.R27H	CUL7_ENST00000535468.1_Missense_Mutation_p.R79H			Q14999	CUL7_HUMAN	cullin 7	27					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACGCGCTGGCGGATCAGCTC	0.637																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(235-237)cGc>cAc		cullin 7							53.0	56.0	55.0					6																	43020447		2203	4299	6502	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43020447C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.80G>A	6.37:g.43020447C>T	ENSP00000265348:p.Arg27His					CUL7_ENST00000265348.3_Missense_Mutation_p.R27H	p.R79H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	322	-			27					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.236G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112437	0.94339	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.85484	-1.95;-1.99	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.89366	0.3671	10	0.87932	D	0	-1.0124	16.2712	0.82622	0.0:0.8676:0.1324:0.0	.	79;27	F5H0L1;Q14999	.;CUL7_HUMAN	H	27;79	ENSP00000265348:R27H;ENSP00000438788:R79H	ENSP00000265348:R27H	R	-	2	0	CUL7	43128425	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.828000	0.69307	2.739000	0.93911	0.561000	0.74099	CGC		0.637	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		74	307	0	0	0	1	0	74	307				
PAPOLB	56903	broad.mit.edu	37	7	4899539	4899539	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4899539G>T	ENST00000404991.1	-	1	2086	c.1900C>A	c.(1900-1902)Cta>Ata	p.L634I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	634					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TATAGGATTAGATATGTTTGT	0.413																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1900-1902)Cta>Ata		poly(A) polymerase beta (testis specific)							50.0	50.0	50.0					7																	4899539		2017	4215	6232	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899539G>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1900C>A	7.37:g.4899539G>T	ENSP00000384700:p.Leu634Ile					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.L634I	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	2086	-		Ovarian(82;0.0175)	634					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1900C>A		.	.	.	.	.	.	.	.	.	.	G	9.764	1.170825	0.21621	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.27	3.39	0.38822	.	.	.	.	.	T	0.24547	0.0595	N	0.04508	-0.205	0.18873	N	0.999988	B	0.23891	0.093	B	0.29785	0.107	T	0.26292	-1.0107	8	0.54805	T	0.06	.	10.481	0.44693	0.0964:0.0:0.9036:0.0	.	635	A4D1Z6	.	I	634	.	ENSP00000384700:L634I	L	-	1	2	PAPOLB	4866065	1.000000	0.71417	0.455000	0.27031	0.770000	0.43624	5.330000	0.65899	1.398000	0.46701	0.591000	0.81541	CTA		0.413	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		29	119	1	0	1.77063e-15	1	1.9355e-15	29	119				
TAS1R2	80834	broad.mit.edu	37	1	19175848	19175848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19175848G>A	ENST00000375371.3	-	4	1475	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	485					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTTGTTGATGGTGTGCCAGGA	0.637																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1453-1455)aCc>aTc		taste receptor, type 1, member 2	Aspartame(DB00168)						82.0	72.0	75.0					1																	19175848		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19175848G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1454C>T	1.37:g.19175848G>A	ENSP00000364520:p.Thr485Ile					RP13-279N23.2_ENST00000494072.3_3'UTR	p.T485I	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	1475	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	485					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.1454C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463389	0.26248	.	.	ENSG00000179002	ENST00000375371	D	0.89746	-2.56	4.4	2.5	0.30297	.	0.000000	0.48767	D	0.000173	D	0.87366	0.6159	N	0.19112	0.55	0.22911	N	0.998575	D	0.89917	1.0	D	0.76575	0.988	T	0.77509	-0.2561	10	0.45353	T	0.12	.	7.1144	0.25409	0.0:0.1891:0.6151:0.1958	.	485	Q8TE23	TS1R2_HUMAN	I	485	ENSP00000364520:T485I	ENSP00000364520:T485I	T	-	2	0	TAS1R2	19048435	1.000000	0.71417	0.603000	0.28903	0.230000	0.25150	3.622000	0.54217	0.478000	0.27488	0.561000	0.74099	ACC		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			19	251	0	0	0	1	0	19	251				
ASB15	142685	broad.mit.edu	37	7	123269055	123269055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269055C>T	ENST00000451558.1	+	12	1528	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ASB15_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000275699.3_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	336					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGTCAACACTCTACTTGCT	0.433																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1006-1008)aCt>aTt		ankyrin repeat and SOCS box containing 15							184.0	168.0	173.0					7																	123269055		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269055C>T	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1007C>T	7.37:g.123269055C>T	ENSP00000397655:p.Thr336Ile					ASB15_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000275699.3_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I	p.T336I			Q8WXK1	ASB15_HUMAN			12	1528	+			336					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1007C>T	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	5.374	0.254323	0.10185	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	6.17	1.25	0.21368	Ankyrin repeat-containing domain (4);	0.886714	0.09976	N	0.731572	T	0.05868	0.0153	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37384	-0.9708	10	0.37606	T	0.19	-38.4327	2.7332	0.05233	0.1186:0.4693:0.2298:0.1823	.	336	Q8WXK1	ASB15_HUMAN	I	336;336;336;336;125;336	ENSP00000397655:T336I;ENSP00000390963:T336I;ENSP00000416433:T336I;ENSP00000438643:T336I;ENSP00000275699:T336I	ENSP00000275699:T336I	T	+	2	0	ASB15	123056291	0.000000	0.05858	0.000000	0.03702	0.711000	0.40976	0.211000	0.17474	-0.040000	0.13580	0.655000	0.94253	ACT		0.433	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			77	411	0	0	0	1	0	77	411				
DDX59	83479	broad.mit.edu	37	1	200628173	200628173	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200628173C>A	ENST00000331314.6	-	4	1257	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	DDX59_ENST00000367348.3_Missense_Mutation_p.K348N|DDX59_ENST00000447706.2_Missense_Mutation_p.K348N	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	348	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTACCACAATCTTTACACCAC	0.308																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1042-1044)aaG>aaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							122.0	133.0	129.0					1																	200628173		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200628173C>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1044G>T	1.37:g.200628173C>A	ENSP00000330460:p.Lys348Asn					DDX59_ENST00000367348.3_Missense_Mutation_p.K348N|DDX59_ENST00000331314.6_Missense_Mutation_p.K348N	p.K348N			Q5T1V6	DDX59_HUMAN			4	1195	-			348			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1044G>T	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854626	0.32791	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.47528	0.84;0.84;0.84	5.74	-0.954	0.10359	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091215	0.85682	D	0.000000	T	0.54415	0.1857	L	0.49350	1.555	0.48395	D	0.999647	D;D	0.67145	0.996;0.992	D;P	0.63877	0.919;0.859	T	0.53012	-0.8498	10	0.54805	T	0.06	-22.3311	10.9624	0.47393	0.0:0.4521:0.0:0.5479	.	348;348	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	N	348	ENSP00000394367:K348N;ENSP00000356317:K348N;ENSP00000330460:K348N	ENSP00000330460:K348N	K	-	3	2	DDX59	198894796	1.000000	0.71417	0.222000	0.23844	0.272000	0.26649	0.765000	0.26546	-0.171000	0.10797	-0.781000	0.03364	AAG		0.308	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		88	487	1	0	7.28744e-38	1	8.7633e-38	88	487				
YTHDC1	91746	broad.mit.edu	37	4	69184570	69184570	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69184570C>A	ENST00000344157.4	-	13	2030	c.1695G>T	c.(1693-1695)aaG>aaT	p.K565N	YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N|YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	565	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATCGTGGATCCTTTAAATACC	0.323																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1693-1695)aaG>aaT		YTH domain containing 1							70.0	72.0	71.0					4																	69184570		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69184570C>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1695G>T	4.37:g.69184570C>A	ENSP00000339245:p.Lys565Asn					YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N	p.K565N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			13	2030	-			565			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.1695G>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229728	0.58777	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.24350	1.86;1.86	5.64	5.64	0.86602	.	0.158661	0.64402	D	0.000016	T	0.27967	0.0689	N	0.19112	0.55	0.58432	D	0.999995	D;P	0.54964	0.969;0.895	P;P	0.50192	0.634;0.452	T	0.01397	-1.1365	10	0.36615	T	0.2	.	19.7175	0.96129	0.0:1.0:0.0:0.0	.	547;565	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	N	565;547	ENSP00000339245:K565N;ENSP00000347888:K547N	ENSP00000339245:K565N	K	-	3	2	YTHDC1	68867165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.396000	0.59684	2.662000	0.90505	0.655000	0.94253	AAG		0.323	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		28	344	1	0	4.4194e-11	1	4.70867e-11	28	344				
GAD1	2571	broad.mit.edu	37	2	171686050	171686050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171686050C>T	ENST00000358196.3	+	4	761	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	71					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CAAGGAGAGGCAATCCTCCAA	0.542																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(211-213)Caa>Taa		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						79.0	85.0	83.0					2																	171686050		2203	4300	6503	SO:0001587	stop_gained	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171686050C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.211C>T	2.37:g.171686050C>T	ENSP00000350928:p.Gln71*					GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*|GAD1_ENST00000429023.1_3'UTR	p.Q71*	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			4	761	+			71					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Nonsense_Mutation	SNP	ENST00000358196.3	37	c.211C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113533	0.94339	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	.	.	.	5.37	5.37	0.77165	.	0.152297	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.5418	19.1006	0.93272	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000341167:Q71X	Q	+	1	0	GAD1	171394296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.948000	0.49066	2.483000	0.83821	0.542000	0.68232	CAA		0.542	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			169	527	0	0	0	1	0	169	527				
NAPA	8775	broad.mit.edu	37	19	47996703	47996703	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47996703G>T	ENST00000263354.3	-	5	689	c.390C>A	c.(388-390)atC>atA	p.I130I	NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000595227.1_Silent_p.I91I|NAPA_ENST00000593785.1_5'Flank	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	130					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.I130I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTGTCTCATAGATCTCAGCAA	0.607																																					Ovarian(185;1135 2042 27703 31345 42493)	ENST00000263354.3																			1	Substitution - coding silent(1)	p.I130I(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11						c.(388-390)atC>atA		N-ethylmaleimide-sensitive factor attachment protein, alpha							252.0	217.0	229.0					19																	47996703		2203	4300	6503	SO:0001819	synonymous_variant	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:47996703G>T	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.390C>A	19.37:g.47996703G>T						NAPA_ENST00000595227.1_Silent_p.I91I|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	p.I130I	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	5	689	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	130					A8K879|Q96IK3|Q9BVJ3	Silent	SNP	ENST00000263354.3	37	c.390C>A	CCDS12702.1																																																																																				0.607	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		233	1053	1	0	1.0846e-72	1	1.3799e-72	233	1053				
ZFP91	80829	broad.mit.edu	37	11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	468					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1402-1404)Gcc>Acc		ZFP91 zinc finger protein							55.0	50.0	52.0					11																	58384868		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384868G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1402G>A	11.37:g.58384868G>A	ENSP00000339030:p.Ala468Thr					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			11	1573	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	468					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1402G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337103	0.81801	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12774	2.65	6.16	6.16	0.99307	.	0.221703	0.38897	N	0.001522	T	0.24890	0.0604	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.62298	0.9;0.89	T	0.00575	-1.1663	10	0.23891	T	0.37	-9.8508	19.6313	0.95704	0.0:0.0:1.0:0.0	.	468;468	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	T	468	ENSP00000339030:A468T	ENSP00000374569:A468T	A	+	1	0	ZFP91	58141444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.937000	0.99478	0.650000	0.86243	GCC		0.537	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		54	203	0	0	0	1	0	54	203				
CHD6	84181	broad.mit.edu	37	20	40033726	40033726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40033726G>A	ENST00000373233.3	-	37	7832	c.7655C>T	c.(7654-7656)gCg>gTg	p.A2552V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2552					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGATAGAGACGCCGGAGCAGT	0.547																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7654-7656)gCg>gTg		chromodomain helicase DNA binding protein 6							110.0	108.0	109.0					20																	40033726		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033726G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7655C>T	20.37:g.40033726G>A	ENSP00000362330:p.Ala2552Val					CHD6_ENST00000480022.1_5'UTR	p.A2552V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	7832	-		Myeloproliferative disorder(115;0.00425)	2552					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7655C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222351	0.58560	.	.	ENSG00000124177	ENST00000373233	D	0.86956	-2.19	5.55	5.55	0.83447	.	0.209857	0.33834	N	0.004520	T	0.80949	0.4722	L	0.52573	1.65	0.80722	D	1	P	0.41131	0.739	B	0.28553	0.091	T	0.80736	-0.1249	10	0.33141	T	0.24	-9.0735	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	2552	Q8TD26	CHD6_HUMAN	V	2552	ENSP00000362330:A2552V	ENSP00000362330:A2552V	A	-	2	0	CHD6	39467140	0.993000	0.37304	0.887000	0.34795	0.882000	0.50991	4.988000	0.63863	2.894000	0.99253	0.591000	0.81541	GCG		0.547	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			20	700	0	0	0	1	0	20	700				
LIPE	3991	broad.mit.edu	37	19	42911420	42911420	+	Silent	SNP	G	G	A	rs371461266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42911420G>A	ENST00000244289.4	-	6	2319	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	681					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGAGTAGTCGATGGAGATGA	0.662																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2041-2043)atC>atT		lipase, hormone-sensitive		G		1,4405		0,1,2202	24.0	23.0	23.0		2043	-0.4	1.0	19		23	0,8596		0,0,4298	no	coding-synonymous	LIPE	NM_005357.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		681/1077	42911420	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42911420G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2043C>T	19.37:g.42911420G>A						LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	p.I681I	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			6	2319	-		Prostate(69;0.00682)	681					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.2043C>T	CCDS12607.1																																																																																				0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		8	69	0	0	0	1	0	8	69				
LAMB2	3913	broad.mit.edu	37	3	49167044	49167044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49167044C>T	ENST00000418109.1	-	12	1675	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	504	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCAGGCAGCGGTCACATCC	0.572																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1510-1512)cGc>cAc		laminin, beta 2 (laminin S)							96.0	90.0	92.0					3																	49167044		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49167044C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1511G>A	3.37:g.49167044C>T	ENSP00000388325:p.Arg504His					LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	p.R504H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	12	1675	-			504			Laminin EGF-like 4.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1511G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045624	0.36085	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.64260	-0.09;-0.09	5.3	-3.26	0.05064	EGF-like, laminin (4);	0.497453	0.21653	N	0.071147	T	0.52419	0.1733	M	0.65975	2.015	0.36992	D	0.894853	B	0.11235	0.004	B	0.06405	0.002	T	0.30090	-0.9990	10	0.51188	T	0.08	.	8.3145	0.32091	0.1225:0.1971:0.0:0.6805	.	504	P55268	LAMB2_HUMAN	H	504	ENSP00000388325:R504H;ENSP00000307156:R504H	ENSP00000307156:R504H	R	-	2	0	LAMB2	49142048	0.889000	0.30405	0.449000	0.26957	0.681000	0.39784	0.853000	0.27777	-0.824000	0.04295	-0.345000	0.07892	CGC		0.572	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		39	180	0	0	0	1	0	39	180				
ERCC4	2072	broad.mit.edu	37	16	14029521	14029521	+	Missense_Mutation	SNP	G	G	A	rs202186213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029521G>A	ENST00000311895.7	+	8	1741	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	578					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCCAAGATACGTGGTTCTTTA	0.493			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G|||	1	0.000199681	0.0	0.0	5008	,	,		18159	0.0		0.001	False		,,,				2504	0.0					ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1732-1734)Gtg>Atg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							79.0	78.0	78.0					16																	14029521		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029521G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1732G>A	16.37:g.14029521G>A	ENSP00000310520:p.Val578Met						p.V578M	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			8	1741	+			578					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1732G>A	CCDS32390.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.4	4.831633	0.91036	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.63744	-0.06	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81508	0.4837	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83833	0.0253	10	0.72032	D	0.01	-23.4834	18.3806	0.90449	0.0:0.0:1.0:0.0	.	578	Q92889	XPF_HUMAN	M	578;567	ENSP00000310520:V578M	ENSP00000310520:V578M	V	+	1	0	ERCC4	13937022	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.644000	0.89710	0.591000	0.81541	GTG		0.493	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		96	357	0	0	0	1	0	96	357				
CCR9	10803	broad.mit.edu	37	3	45942482	45942482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45942482C>A	ENST00000357632.2	+	3	382	c.202C>A	c.(202-204)Ctt>Att	p.L68I	CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|CCR9_ENST00000422395.1_Silent_p.V96V|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	68					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGCAACAGTCTTGTTATCCT	0.473																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(202-204)Ctt>Att		chemokine (C-C motif) receptor 9							261.0	218.0	233.0					3																	45942482		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942482C>A	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.202C>A	3.37:g.45942482C>A	ENSP00000350256:p.Leu68Ile					CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|CCR9_ENST00000422395.1_Silent_p.V96V|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|LZTFL1_ENST00000536047.1_Intron	p.L68I	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	382	+			68					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.202C>A	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038359	0.35989	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.77877	-1.13;-1.13;-1.13	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.086825	0.48767	D	0.000176	D	0.86188	0.5873	M	0.82323	2.585	0.48696	D	0.999692	D	0.76494	0.999	D	0.75020	0.985	D	0.87005	0.2119	10	0.72032	D	0.01	.	6.6875	0.23154	0.0:0.7802:0.0:0.2198	.	68	P51686	CCR9_HUMAN	I	68;56;56	ENSP00000350256:L68I;ENSP00000379292:L56I;ENSP00000348260:L56I	ENSP00000348260:L56I	L	+	1	0	CCR9	45917486	0.925000	0.31364	0.943000	0.38184	0.007000	0.05969	1.241000	0.32743	2.392000	0.81423	0.563000	0.77884	CTT		0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			212	814	1	0	9.14242e-86	1	1.1718e-85	212	814				
TNC	3371	broad.mit.edu	37	9	117848402	117848402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848402G>T	ENST00000350763.4	-	3	2019	c.1608C>A	c.(1606-1608)tgC>tgA	p.C536*	TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*|TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	536	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGGCCATGGCAGTCATTTG	0.582																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1606-1608)tgC>tgA		tenascin C							82.0	65.0	71.0					9																	117848402		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848402G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1608C>A	9.37:g.117848402G>T	ENSP00000265131:p.Cys536*					TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*	p.C536*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	2019	-			536			EGF-like 13.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.1608C>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	39	7.851648	0.98525	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5669	0.61824	0.0709:0.0:0.9291:0.0	.	.	.	.	X	536	.	ENSP00000344400:C536X	C	-	3	2	TNC	116888223	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	2.341000	0.43983	2.822000	0.97130	0.563000	0.77884	TGC		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		17	280	1	0	2.35188e-11	1	2.50879e-11	17	280				
CDH4	1002	broad.mit.edu	37	20	60427938	60427938	+	Silent	SNP	C	C	T	rs2229574	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCGTGGACGAGGGCTCCA	0.597													C|||	10	0.00199681	0.0	0.0043	5008	,	,		19177	0.001		0.005	False		,,,				2504	0.001					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(859-861)gaC>gaT		cadherin 4, type 1, R-cadherin (retinal)		C		4,4402	8.1+/-20.4	0,4,2199	203.0	165.0	178.0		861	1.1	1.0	20	dbSNP_134	178	51,8549	33.3+/-86.6	0,51,4249	no	coding-synonymous	CDH4	NM_001794.2		0,55,6448	TT,TC,CC		0.593,0.0908,0.4229		287/917	60427938	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60427938C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.861C>T	20.37:g.60427938C>T						CDH4_ENST00000543233.1_Silent_p.D213D	p.D287D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		6	949	+			287			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.861C>T	CCDS13488.1																																																																																				0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		134	773	0	0	0	1	0	134	773				
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12946138G>A	ENST00000276297.4	-	16	4559	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1384	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAAGTAGGCGCTTTAAGATT	0.453																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(4150-4152)Cgc>Tgc		deleted in liver cancer 1							131.0	136.0	135.0					8																	12946138		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12946138G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4150C>T	8.37:g.12946138G>A	ENSP00000276297:p.Arg1384Cys					DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000520226.1_Missense_Mutation_p.R873C	p.R1384C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			16	4559	-			1384			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.4150C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735184	0.89482	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.05	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.993	D	0.90999	0.4841	10	0.87932	D	0	.	15.6902	0.77446	0.0:0.0:0.863:0.137	.	1384;981;947	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1384;947;323;981;873	ENSP00000276297:R1384C;ENSP00000351797:R947C;ENSP00000422595:R981C;ENSP00000428028:R873C	ENSP00000276297:R1384C	R	-	1	0	DLC1	12990509	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.562000	0.82300	2.793000	0.96121	0.655000	0.94253	CGC		0.453	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		113	529	0	0	0	1	0	113	529				
ZNF496	84838	broad.mit.edu	37	1	247463988	247463988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463988G>A	ENST00000294753.4	-	9	2061	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	533					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)			TGGTCGTGCCGCTGGAAGGCC	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.(1597-1599)Cgg>Tgg		zinc finger protein 496							86.0	86.0	86.0					1																	247463988		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.chr1:247463988G>A	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.1597C>T	1.37:g.247463988G>A	ENSP00000294753:p.Arg533Trp					ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W|ZNF496_ENST00000462139.1_5'UTR	p.R533W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2061	-	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)		533					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1597C>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017666	0.54576	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.30182	1.54;1.54	4.5	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.288637	0.25001	N	0.033912	T	0.42381	0.1200	L	0.34521	1.04	0.40433	D	0.979968	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.41448	-0.9508	10	0.87932	D	0	-32.0751	11.8952	0.52652	0.0:0.0:0.8243:0.1757	.	569;533	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	W	533;569	ENSP00000294753:R533W;ENSP00000355454:R569W	ENSP00000294753:R533W	R	-	1	2	ZNF496	245530611	0.000000	0.05858	0.963000	0.40424	0.174000	0.22865	-0.211000	0.09332	1.225000	0.43566	-0.182000	0.12963	CGG		0.622	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		147	466	0	0	0	1	0	147	466				
REPS1	85021	broad.mit.edu	37	6	139242254	139242254	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139242254G>T	ENST00000450536.2	-	11	1920	c.1346C>A	c.(1345-1347)gCt>gAt	p.A449D	REPS1_ENST00000415951.2_Missense_Mutation_p.A422D|REPS1_ENST00000409812.2_Missense_Mutation_p.A422D|REPS1_ENST00000258062.5_Missense_Mutation_p.A449D|REPS1_ENST00000367663.4_Missense_Mutation_p.A422D			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	449					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGAACAATAGCAGTATCCTA	0.383																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(1345-1347)gCt>gAt		RALBP1 associated Eps domain containing 1							103.0	98.0	99.0					6																	139242254		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139242254G>T		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1346C>A	6.37:g.139242254G>T	ENSP00000392065:p.Ala449Asp					REPS1_ENST00000415951.2_Missense_Mutation_p.A422D|REPS1_ENST00000409812.2_Missense_Mutation_p.A422D|REPS1_ENST00000258062.5_Missense_Mutation_p.A449D|REPS1_ENST00000367663.4_Missense_Mutation_p.A422D	p.A449D			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	11	1920	-			449					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.1346C>A		.	.	.	.	.	.	.	.	.	.	G	31	5.064595	0.93898	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.35605	1.43;1.32;1.3;1.46;1.44;1.33	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.979;0.998	D;D;D;P;D	0.85130	0.983;0.972;0.997;0.718;0.994	T	0.10567	-1.0624	10	0.13853	T	0.58	-16.3376	19.4156	0.94697	0.0:0.0:1.0:0.0	.	449;397;422;449;422	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	D	449;422;408;422;449;422;397;36	ENSP00000392065:A449D;ENSP00000356635:A422D;ENSP00000434251:A408D;ENSP00000386699:A422D;ENSP00000258062:A449D;ENSP00000397941:A422D	ENSP00000258062:A449D	A	-	2	0	REPS1	139283947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.595000	0.87683	0.557000	0.71058	GCT		0.383	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			55	212	1	0	2.76378e-25	1	3.16915e-25	55	212				
BAIAP3	8938	broad.mit.edu	37	16	1397298	1397298	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397298G>T	ENST00000324385.5	+	29	3014		c.e29-1		BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3						G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCTGCCCCAGGCCCTGGTCA	0.647																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.e29-1		BAI1-associated protein 3							40.0	39.0	39.0					16																	1397298		2198	4299	6497	SO:0001630	splice_region_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1397298G>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2857-1G>T	16.37:g.1397298G>T						BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site		NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			29	3014	+		Hepatocellular(780;0.0893)						A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Splice_Site	SNP	ENST00000324385.5	37		CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037427	0.35989	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9418	0.79758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAIAP3	1337299	1.000000	0.71417	0.994000	0.49952	0.259000	0.26198	2.661000	0.46758	2.367000	0.80283	0.561000	0.74099	.		0.647	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3		Intron	9	140	1	0	4.68919e-08	1	4.88816e-08	9	140				
PKD1L2	114780	broad.mit.edu	37	16	81248637	81248637	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81248637G>A	ENST00000525539.1	-	0	625				PKD1L2_ENST00000337114.4_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						CTTGACGTTGGCCCAGCTGCA	0.627											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599697.1																			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						c.(625-627)gCc>gTc		polycystic kidney disease 1-like 2							16.0	20.0	19.0					16																	81248637		2034	4180	6214			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81248637G>A	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.81248637G>A			OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1204	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.A209V			Q7Z442	PK1L2_HUMAN			3	625	-			209			SUEL-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.626C>T		.	.	.	.	.	.	.	.	.	.	G	0.007	-2.004989	0.00431	.	.	ENSG00000166473	ENST00000337114	T	0.17691	2.26	4.77	-1.65	0.08291	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.791308	0.11216	N	0.587175	T	0.06280	0.0162	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.41342	-0.9514	9	0.02654	T	1	-0.0759	10.4722	0.44644	0.5602:0.0:0.4398:0.0	.	209;209	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	V	209	ENSP00000337397:A209V	ENSP00000337397:A209V	A	-	2	0	PKD1L2	79806138	0.044000	0.20184	0.001000	0.08648	0.018000	0.09664	0.949000	0.29109	-0.709000	0.05008	-0.781000	0.03364	GCC		0.627	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			11	59	0	0	0	1	0	11	59				
SLC17A2	10246	broad.mit.edu	37	6	25915985	25915985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25915985G>A	ENST00000265425.3	-	8	1062	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000377850.3_Nonsense_Mutation_p.R348*			O00624	NPT3_HUMAN	solute carrier family 17, member 2	348					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGCTTTCGCACAGTGATC	0.473																																						ENST00000377850.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1042-1044)Cga>Tga		solute carrier family 17, member 2							88.0	87.0	87.0					6																	25915985		2203	4300	6503	SO:0001587	stop_gained	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25915985G>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.1042C>T	6.37:g.25915985G>A	ENSP00000265425:p.Arg348*					SLC17A2_ENST00000265425.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.R348*	p.R348*			O00624	NPT3_HUMAN			9	1566	-			348					A6NK81|A6NLD6|Q5TB84|Q76P85	Nonsense_Mutation	SNP	ENST00000265425.3	37	c.1042C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.098953	0.98654	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	.	.	.	4.93	3.12	0.35913	.	0.000000	0.44902	D	0.000402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6349	0.45558	0.0:0.0:0.667:0.333	.	.	.	.	X	348	.	ENSP00000265425:R348X	R	-	1	2	SLC17A2	26023964	0.983000	0.35010	0.966000	0.40874	0.795000	0.44927	2.267000	0.43329	0.774000	0.33427	-0.975000	0.02590	CGA		0.473	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			67	296	0	0	0	1	0	67	296				
SACS	26278	broad.mit.edu	37	13	23929587	23929587	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929587C>A	ENST00000382292.3	-	7	1437	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.Q388H|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	388					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATGTTTTCTGTGCATCCT	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(1162-1164)caG>caT		spastic ataxia of Charlevoix-Saguenay (sacsin)							123.0	123.0	123.0					13																	23929587		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929587C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1164G>T	13.37:g.23929587C>A	ENSP00000371729:p.Gln388His					SACS_ENST00000382292.3_Missense_Mutation_p.Q388H|SACS_ENST00000402364.1_5'UTR	p.Q388H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1752	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	388					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1164G>T	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.373|9.373	1.071071|1.071071	0.20147|0.20147	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|D;D;T	.|0.87029	.|-2.2;-2.2;-1.13	5.72|5.72	-4.06|-4.06	0.03986|0.03986	.|.	.|0.339875	.|0.31872	.|N	.|0.006940	.|D	.|0.86167	.|0.5868	M|M	0.62723|0.62723	1.935|1.935	0.20764|0.20764	N|N	0.999855|0.999855	.|P;B;B	.|0.51057	.|0.941;0.129;0.007	.|P;B;B	.|0.53809	.|0.735;0.138;0.031	.|T	.|0.81057	.|-0.1105	.|10	.|0.54805	.|T	.|0.06	.|.	8.6511|8.6511	0.34035|0.34035	0.0:0.3169:0.1801:0.503|0.0:0.3169:0.1801:0.503	.|.	.|287;175;388	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	X|H	288|388;388;12	.|ENSP00000371729:Q388H;ENSP00000371735:Q388H;ENSP00000390925:Q12H	.|ENSP00000371729:Q388H	E|Q	-|-	1|3	0|2	SACS|SACS	22827587|22827587	0.276000|0.276000	0.24211|0.24211	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.005000|-0.005000	0.12855|0.12855	-0.905000|-0.905000	0.03871|0.03871	-0.786000|-0.786000	0.03341|0.03341	GAA|CAG		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		57	340	1	0	1.48341e-19	1	1.65596e-19	57	340				
CD9	928	broad.mit.edu	37	12	6334663	6334663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6334663G>A	ENST00000382518.1	+	3	574	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_5'UTR|CD9_ENST00000009180.4_Silent_p.E46E			P21926	CD9_HUMAN	CD9 molecule	46					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GCATCTTCGAGCAAGAAACTA	0.478																																						ENST00000382518.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						c.(136-138)gaG>gaA		CD9 molecule							125.0	114.0	118.0					12																	6334663		2203	4300	6503	SO:0001819	synonymous_variant	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6334663G>A	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.138G>A	12.37:g.6334663G>A						CD9_ENST00000481267.1_3'UTR|CD9_ENST00000009180.4_Silent_p.E46E|CD9_ENST00000382515.2_5'UTR	p.E46E			P21926	CD9_HUMAN			3	574	+			46					D3DUQ9|Q5J7W6|Q96ES4	Silent	SNP	ENST00000382518.1	37	c.138G>A	CCDS8540.1																																																																																				0.478	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			74	287	0	0	0	1	0	74	287				
LRRN4	164312	broad.mit.edu	37	20	6022053	6022053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022053C>T	ENST00000378858.4	-	5	2062	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	613	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGCAGAGTAGCGGATCTGGTA	0.701																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1837-1839)cGc>cAc		leucine rich repeat neuronal 4							52.0	49.0	50.0					20																	6022053		2201	4297	6498	SO:0001583	missense	164312					integral to membrane		g.chr20:6022053C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1838G>A	20.37:g.6022053C>T	ENSP00000368135:p.Arg613His						p.R613H	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	2062	-			613			Fibronectin type-III.		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1838G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	5.462	0.270375	0.10349	.	.	ENSG00000125872	ENST00000378858	T	0.58210	0.35	5.13	-4.69	0.03299	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.366150	0.04518	N	0.384017	T	0.27697	0.0681	N	0.16368	0.405	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.09930	-1.0652	10	0.14252	T	0.57	-11.1259	2.1932	0.03905	0.1663:0.2844:0.095:0.4544	.	613	Q8WUT4	LRRN4_HUMAN	H	613	ENSP00000368135:R613H	ENSP00000368135:R613H	R	-	2	0	LRRN4	5970053	0.000000	0.05858	0.465000	0.27155	0.520000	0.34377	-1.726000	0.01861	-0.429000	0.07329	-0.258000	0.10820	CGC		0.701	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		8	424	0	0	0	1	0	8	424				
CSRNP3	80034	broad.mit.edu	37	2	166535367	166535367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166535367C>A	ENST00000342316.4	+	5	1134	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M|CSRNP3_ENST00000314499.7_Missense_Mutation_p.L288M	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	288					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AATCCCCACGCTGAATGGCTG	0.438																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(862-864)Ctg>Atg		cysteine-serine-rich nuclear protein 3							69.0	68.0	68.0					2																	166535367		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535367C>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.862C>A	2.37:g.166535367C>A	ENSP00000344042:p.Leu288Met					CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M|CSRNP3_ENST00000342316.4_Missense_Mutation_p.L288M	p.L288M	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			7	1238	+			288					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.862C>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274116	0.40194	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.71	5.71	0.89125	.	0.351845	0.29838	N	0.011074	T	0.13286	0.0322	N	0.08118	0	0.38413	D	0.945977	P	0.49447	0.924	P	0.47981	0.563	T	0.18085	-1.0348	10	0.31617	T	0.26	-9.333	14.4442	0.67338	0.0:0.853:0.147:0.0	.	288	Q8WYN3	CSRN3_HUMAN	M	288;295;288;288;320	ENSP00000412081:L288M;ENSP00000318258:L288M;ENSP00000344042:L288M;ENSP00000387195:L320M	ENSP00000318258:L288M	L	+	1	2	CSRNP3	166243613	0.956000	0.32656	0.998000	0.56505	0.943000	0.58893	1.839000	0.39220	2.683000	0.91414	0.650000	0.86243	CTG		0.438	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		112	255	1	0	4.70087e-54	1	5.86491e-54	112	255				
ARSH	347527	broad.mit.edu	37	X	2933300	2933300	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	210					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTTCACTTCCTGGTACTCTA	0.453																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(628-630)tcC>tcA		arylsulfatase family, member H							189.0	126.0	148.0					X																	2933300		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933300C>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.630C>A	X.37:g.2933300C>A							p.S210S	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			4	630	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	210						Silent	SNP	ENST00000381130.2	37	c.630C>A	CCDS35198.1																																																																																				0.453	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		56	127	1	0	8.44121e-28	1	9.79253e-28	56	127				
EXT2	2132	broad.mit.edu	37	11	44129365	44129365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44129365C>A	ENST00000343631.3	+	2	232	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	EXT2_ENST00000533608.1_Missense_Mutation_p.L35M|EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000395673.3_Missense_Mutation_p.L68M			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	35					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTGTCCTCCTGGGCCTCAT	0.512			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(202-204)Ctg>Atg		exostosin glycosyltransferase 2							167.0	173.0	171.0					11																	44129365		2203	4300	6503	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44129365C>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.103C>A	11.37:g.44129365C>A	ENSP00000342656:p.Leu35Met					EXT2_ENST00000533608.1_Missense_Mutation_p.L35M|EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000343631.3_Missense_Mutation_p.L35M	p.L68M	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			2	258	+			35					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.202C>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755661	0.49362	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.45	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D;D	0.65815	0.974;0.991;0.995;0.98;0.98	P;P;P;P;P	0.60886	0.758;0.762;0.88;0.674;0.674	T	0.69537	-0.5119	10	0.72032	D	0.01	0.1963	12.1929	0.54280	0.0:0.8608:0.0:0.1392	.	35;35;35;35;48	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	M	35;35;35;35;68;35	ENSP00000431173:L35M;ENSP00000433827:L35M;ENSP00000434716:L35M;ENSP00000351509:L35M;ENSP00000379032:L68M;ENSP00000342656:L35M	ENSP00000342656:L35M	L	+	1	2	EXT2	44085941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	0.682000	0.31407	0.650000	0.86243	CTG		0.512	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		84	368	1	0	1.07134e-49	1	1.32585e-49	84	368				
OBSCN	84033	broad.mit.edu	37	1	228476588	228476588	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228476588G>T	ENST00000422127.1	+	38	10382	c.10338G>T	c.(10336-10338)aaG>aaT	p.K3446N	OBSCN_ENST00000359599.6_Splice_Site_p.K2293N|OBSCN_ENST00000284548.11_Splice_Site_p.K3446N|OBSCN_ENST00000570156.2_Splice_Site_p.K3875N|OBSCN_ENST00000366709.4_Splice_Site_p.K565N|OBSCN_ENST00000366707.4_Splice_Site_p.K565N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3446					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCACCGTGAAGGGTAATGACT	0.602																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.e43+1		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							85.0	96.0	93.0					1																	228476588		2198	4282	6480	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228476588G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10339+1G>T	1.37:g.228476588G>T						OBSCN_ENST00000359599.6_Splice_Site_p.K2293_splice|OBSCN_ENST00000284548.11_Splice_Site_p.K3446_splice|OBSCN_ENST00000422127.1_Splice_Site_p.K3446_splice|OBSCN_ENST00000366709.4_Splice_Site_p.K565_splice|OBSCN_ENST00000366707.4_Splice_Site_p.K565_splice	p.K3875_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			43	11699	+		Prostate(94;0.0405)	2912			Ig-like 39.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.11626_splice	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285858	0.23478	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	5.12	3.03	0.35002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.205780	0.05700	N	0.593826	T	0.11324	0.0276	L	0.58354	1.805	0.19575	N	0.999969	D;B	0.55800	0.973;0.012	P;B	0.53401	0.725;0.009	T	0.27226	-1.0080	10	0.15952	T	0.53	.	1.1255	0.01734	0.2016:0.1401:0.4334:0.2249	.	3446;3446	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	3446;3446;565;565;2293	ENSP00000284548:K3446N;ENSP00000409493:K3446N;ENSP00000355668:K565N;ENSP00000355670:K565N;ENSP00000352613:K2293N	ENSP00000284548:K3446N	K	+	3	2	OBSCN	226543211	0.001000	0.12720	0.850000	0.33497	0.115000	0.19883	-0.087000	0.11215	1.075000	0.40932	0.491000	0.48974	AAG		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Missense_Mutation	35	256	1	0	2.75727e-19	1	3.0731e-19	35	256				
RAI1	10743	broad.mit.edu	37	17	17700276	17700276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700276G>A	ENST00000353383.1	+	3	4483	c.4014G>A	c.(4012-4014)tcG>tcA	p.S1338S	RAI1_ENST00000261641.6_Silent_p.S1338S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1338					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGATCACCTCGCCCAGCCTCA	0.627																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4012-4014)tcG>tcA		retinoic acid induced 1							63.0	72.0	69.0					17																	17700276		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700276G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4014G>A	17.37:g.17700276G>A						RAI1_ENST00000261641.6_Silent_p.S1338S	p.S1338S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4483	+			1338					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.4014G>A	CCDS11188.1																																																																																				0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		162	622	0	0	0	1	0	162	622				
OR2F1	26211	broad.mit.edu	37	7	143657759	143657759	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143657759A>C	ENST00000392899.1	+	1	733	c.696A>C	c.(694-696)gaA>gaC	p.E232D	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	232					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGTCCAGAGAAGGAAGAAAGA	0.493																																						ENST00000392899.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(694-696)gaA>gaC		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)							183.0	159.0	167.0					7																	143657759		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657759A>C	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.696A>C	7.37:g.143657759A>C	ENSP00000376633:p.Glu232Asp						p.E232D	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN			1	733	+	Melanoma(164;0.0903)		232					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.696A>C	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660959	0.29515	.	.	ENSG00000213215	ENST00000392899	T	0.00342	8.03	5.53	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.114861	0.39146	N	0.001454	T	0.00271	0.0008	L	0.52266	1.64	0.26943	N	0.966205	B	0.17465	0.022	B	0.25140	0.058	T	0.37911	-0.9685	10	0.62326	D	0.03	-8.8499	8.3184	0.32115	0.3484:0.0:0.6516:0.0	.	232	Q13607	OR2F1_HUMAN	D	232	ENSP00000376633:E232D	ENSP00000376633:E232D	E	+	3	2	OR2F1	143288692	0.210000	0.23517	0.478000	0.27316	0.534000	0.34807	0.034000	0.13776	0.115000	0.18071	-0.132000	0.14878	GAA		0.493	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			89	332	0	0	0	1	0	89	332				
GPR171	29909	broad.mit.edu	37	3	150916725	150916725	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150916725A>C	ENST00000309180.5	-	3	679	c.449T>G	c.(448-450)aTg>aGg	p.M150R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	150					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGAATCATCATATTTGGCAC	0.378																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(448-450)aTg>aGg		G protein-coupled receptor 171							63.0	66.0	65.0					3																	150916725		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916725A>C	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.449T>G	3.37:g.150916725A>C	ENSP00000308479:p.Met150Arg					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.M150R	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	679	-			150					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.449T>G	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886297	0.72410	.	.	ENSG00000174946	ENST00000309180	T	0.37584	1.19	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.64170	1.965	0.52099	D	0.999944	D	0.76494	0.999	D	0.83275	0.996	T	0.61520	-0.7046	10	0.72032	D	0.01	-34.7026	15.71	0.77620	1.0:0.0:0.0:0.0	.	150	O14626	GP171_HUMAN	R	150	ENSP00000308479:M150R	ENSP00000308479:M150R	M	-	2	0	GPR171	152399415	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	5.406000	0.66357	2.105000	0.64084	0.533000	0.62120	ATG		0.378	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		82	284	0	0	0	1	0	82	284				
ZNF136	7695	broad.mit.edu	37	19	12298401	12298401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298401C>A	ENST00000343979.4	+	4	1348	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	403					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CCCTTTCATTCTCTGAGTCCA	0.383																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1207-1209)tCt>tAt		zinc finger protein 136							73.0	67.0	69.0					19																	12298401		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298401C>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1208C>A	19.37:g.12298401C>A	ENSP00000344162:p.Ser403Tyr					ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	p.S403Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	1348	+			403						Missense_Mutation	SNP	ENST00000343979.4	37	c.1208C>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038960	0.08148	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.06608	3.28;3.28	1.4	-2.8	0.05823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.05487	-0.04	0.09310	N	1	P	0.43231	0.801	B	0.31191	0.125	T	0.45145	-0.9281	8	.	.	.	.	4.8689	0.13622	0.0:0.1802:0.4533:0.3665	.	403	P52737	ZN136_HUMAN	Y	403;337	ENSP00000344162:S403Y;ENSP00000381617:S337Y	.	S	+	2	0	ZNF136	12159401	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-3.496000	0.00451	-1.012000	0.03387	0.655000	0.94253	TCT		0.383	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		54	234	1	0	9.55421e-19	1	1.06232e-18	54	234				
PSD4	23550	broad.mit.edu	37	2	113955353	113955353	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955353G>T	ENST00000245796.6	+	14	2682	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	PSD4_ENST00000441564.3_Missense_Mutation_p.E800D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	829	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGGGGGAGAGCTTGGTGG	0.627																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2485-2487)gaG>gaT		pleckstrin and Sec7 domain containing 4							46.0	47.0	46.0					2																	113955353		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955353G>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2487G>T	2.37:g.113955353G>T	ENSP00000245796:p.Glu829Asp					PSD4_ENST00000441564.2_Missense_Mutation_p.E800D	p.E829D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			14	2682	+			829			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.2487G>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	7.974	0.749789	0.15778	.	.	ENSG00000125637	ENST00000245796;ENST00000441564;ENST00000409378	T;T	0.10382	2.88;2.9	4.67	1.74	0.24563	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.986040	0.08314	N	0.964991	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25772	0.045;0.134;0.012;0.134	B;B;B;B	0.38755	0.103;0.281;0.037;0.281	T	0.51865	-0.8651	10	0.35671	T	0.21	.	8.0802	0.30739	0.091:0.4703:0.4387:0.0	.	59;486;800;829	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	D	829;800;42	ENSP00000245796:E829D;ENSP00000413997:E800D	ENSP00000245796:E829D	E	+	3	2	PSD4	113671824	0.962000	0.33011	0.713000	0.30519	0.360000	0.29518	1.057000	0.30492	0.040000	0.15660	-0.379000	0.06801	GAG		0.627	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		11	354	1	0	1.61879e-10	1	1.71755e-10	11	354				
ASPHD2	57168	broad.mit.edu	37	22	26838423	26838423	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26838423A>G	ENST00000215906.5	+	3	1324		c.e3-1		HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2						peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTCCTACAAGGTCTGAAAA	0.517																																						ENST00000215906.5																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.e3-1		aspartate beta-hydroxylase domain containing 2							112.0	120.0	117.0					22																	26838423		2203	4300	6503	SO:0001630	splice_region_variant	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26838423A>G	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.887-1A>G	22.37:g.26838423A>G								NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			3	1324	+								B2RCH3|Q7L0W3|Q9NSN3	Splice_Site	SNP	ENST00000215906.5	37		CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905827	0.33628	.	.	ENSG00000128203	ENST00000215906	.	.	.	4.35	-0.369	0.12534	.	.	.	.	.	.	.	.	.	.	.	0.46521	D	0.999083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8781	0.13665	0.6668:0.1526:0.1806:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASPHD2	25168423	1.000000	0.71417	0.015000	0.15790	0.431000	0.31685	8.271000	0.89883	-0.227000	0.09884	0.533000	0.62120	.		0.517	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437	Intron	77	685	0	0	0	1	0	77	685				
KMT2C	58508	broad.mit.edu	37	7	151884809	151884809	+	Missense_Mutation	SNP	G	G	A	rs149660967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151884809G>A	ENST00000262189.6	-	32	5002	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1595L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1595					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTGGCATCAGGATAAGAGGA	0.373																																						ENST00000355193.2																			0											c.(4783-4785)cCt>cTt		lysine (K)-specific methyltransferase 2C							99.0	96.0	97.0					7																	151884809		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151884809G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4784C>T	7.37:g.151884809G>A	ENSP00000262189:p.Pro1595Leu					KMT2C_ENST00000262189.6_Missense_Mutation_p.P1595L	p.P1595L							32	5002	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4784C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706173	0.30232	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.81908	-1.55;-1.55	5.71	4.83	0.62350	.	0.308380	0.22396	U	0.060603	T	0.70500	0.3231	N	0.11927	0.2	0.54753	D	0.999988	B;B	0.17038	0.02;0.011	B;B	0.17722	0.016;0.019	T	0.64076	-0.6492	10	0.18276	T	0.48	.	17.0864	0.86612	0.0:0.127:0.873:0.0	.	1595;656	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	L	1595	ENSP00000262189:P1595L;ENSP00000347325:P1595L	ENSP00000262189:P1595L	P	-	2	0	MLL3	151515742	0.987000	0.35691	0.290000	0.24890	0.993000	0.82548	3.950000	0.56676	1.533000	0.49186	0.643000	0.83706	CCT		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			84	432	0	0	0	1	0	84	432				
ZNF318	24149	broad.mit.edu	37	6	43307732	43307732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43307732G>T	ENST00000361428.2	-	10	4081	c.4004C>A	c.(4003-4005)cCt>cAt	p.P1335H	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1335					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCATCCAAGGGCTGGTATG	0.478																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(4003-4005)cCt>cAt		zinc finger protein 318							197.0	187.0	190.0					6																	43307732		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307732G>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4004C>A	6.37:g.43307732G>T	ENSP00000354964:p.Pro1335His					ZNF318_ENST00000318149.3_Intron	p.P1335H	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	4081	-			1335					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.4004C>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880334	0.51801	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	.	0.091491	0.48286	D	0.000183	T	0.55337	0.1914	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58411	-0.7641	10	0.59425	D	0.04	-7.3954	15.3144	0.74062	0.0:0.1393:0.8607:0.0	.	1335	Q5VUA4	ZN318_HUMAN	H	1335	ENSP00000354964:P1335H	ENSP00000354964:P1335H	P	-	2	0	ZNF318	43415710	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.178000	0.77657	2.683000	0.91414	0.655000	0.94253	CCT		0.478	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		123	502	1	0	2.36156e-58	1	2.96174e-58	123	502				
DSCAML1	57453	broad.mit.edu	37	11	117392003	117392003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117392003G>A	ENST00000321322.6	-	6	1236	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	352	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCAGCTCCGTGTTGCGATA	0.627																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1234-1236)aCg>aTg		Down syndrome cell adhesion molecule like 1							97.0	82.0	87.0					11																	117392003		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117392003G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1235C>T	11.37:g.117392003G>A	ENSP00000315465:p.Thr412Met					DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	p.T412M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1236	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	352			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1235C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193169	0.78902	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.30182	1.54;1.54	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51873	0.1700	L	0.58810	1.83	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;D	0.66847	0.912;0.947	T	0.55945	-0.8060	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	142;352	G3V1B5;Q8TD84	.;DSCL1_HUMAN	M	142;412;119	ENSP00000434335:T142M;ENSP00000315465:T412M	ENSP00000315465:T412M	T	-	2	0	DSCAML1	116897213	1.000000	0.71417	0.942000	0.38095	0.958000	0.62258	6.316000	0.72857	2.417000	0.82017	0.609000	0.83330	ACG		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		128	465	0	0	0	1	0	128	465				
RPUSD1	113000	broad.mit.edu	37	16	836178	836178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836178G>A	ENST00000561734.1	-	5	954	c.711C>T	c.(709-711)tgC>tgT	p.C237C	CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.C237C|RPUSD1_ENST00000567114.1_Silent_p.C108C|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	237					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGGGCTCCAGCAGGCATCCA	0.667																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(709-711)tgC>tgT		RNA pseudouridylate synthase domain containing 1							54.0	64.0	61.0					16																	836178		2200	4296	6496	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836178G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.711C>T	16.37:g.836178G>A						RPUSD1_ENST00000567114.1_Silent_p.C108C|RPUSD1_ENST00000007264.2_Silent_p.C237C|RPUSD1_ENST00000565809.1_3'UTR	p.C237C			Q9UJJ7	RUSD1_HUMAN			5	954	-		Hepatocellular(780;0.00335)	237					D3DU66	Silent	SNP	ENST00000561734.1	37	c.711C>T	CCDS10426.1																																																																																				0.667	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		23	505	0	0	0	1	0	23	505				
ATP2A2	488	broad.mit.edu	37	12	110784227	110784227	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784227C>A	ENST00000539276.2	+	20	3190	c.3081C>A	c.(3079-3081)atC>atA	p.I1027I	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Silent_p.I1000I			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1027					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCCTGGTGATCTGGGTCTATA	0.433																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2998-3000)atC>atA		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							86.0	75.0	79.0					12																	110784227		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110784227C>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.3081C>A	12.37:g.110784227C>A						ATP2A2_ENST00000539276.2_Silent_p.I1027I|ATP2A2_ENST00000308664.6_Intron	p.I1000I			P16615	AT2A2_HUMAN			19	3563	+			1027					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.3000C>A	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291400	0.10567	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	4.22	0.49857	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52909	-0.8512	4	.	.	.	.	7.1602	0.25659	0.1312:0.6775:0.126:0.0653	.	.	.	.	M	918	.	.	L	+	1	2	ATP2A2	109268610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.251000	0.43187	0.862000	0.35528	0.655000	0.94253	CTG		0.433	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		94	243	1	0	1.97301e-41	1	2.39674e-41	94	243				
ELMO1	9844	broad.mit.edu	37	7	36901286	36901286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36901286A>C	ENST00000310758.4	-	21	2608	c.1961T>G	c.(1960-1962)tTc>tGc	p.F654C	ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C|ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C|ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	654	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGGAGCGATGAAGTTCAGTTG	0.388																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1960-1962)tTc>tGc		engulfment and cell motility 1							175.0	169.0	171.0					7																	36901286		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36901286A>C	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1961T>G	7.37:g.36901286A>C	ENSP00000312185:p.Phe654Cys					ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C|ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C|ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C	p.F654C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			21	2608	-			654			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1961T>G	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516722	0.85495	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	M	0.83692	2.655	0.80722	D	1	D	0.61697	0.99	P	0.59643	0.861	D	0.84087	0.0388	10	0.66056	D	0.02	.	15.7652	0.78120	1.0:0.0:0.0:0.0	.	654	Q92556	ELMO1_HUMAN	C	356;174;654;558;174;654;654	ENSP00000342142:F356C;ENSP00000379360:F174C;ENSP00000312185:F654C;ENSP00000379355:F174C;ENSP00000406952:F654C;ENSP00000394458:F654C	ENSP00000312185:F654C	F	-	2	0	ELMO1	36867811	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	TTC		0.388	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		154	617	0	0	0	1	0	154	617				
TRPM1	4308	broad.mit.edu	37	15	31329913	31329913	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31329913C>A	ENST00000256552.6	-	20	2719		c.e20+1		RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGGCCTCACTGTGTAAAAC	0.373																																						ENST00000542188.1																			1	Unknown(1)	p.?(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.e19+1		transient receptor potential cation channel, subfamily M, member 1							148.0	131.0	137.0					15																	31329913		1869	4106	5975	SO:0001630	splice_region_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31329913C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2571+1G>T	15.37:g.31329913C>A						TRPM1_ENST00000256552.6_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Splice_Site		NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	19	2936	-		all_lung(180;1.92e-11)							Splice_Site	SNP	ENST00000256552.6	37		CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772569	0.69992	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0384	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM1	29117205	1.000000	0.71417	0.976000	0.42696	0.694000	0.40290	7.776000	0.85560	2.420000	0.82092	0.655000	0.94253	.		0.373	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	Intron	78	320	1	0	3.62344e-47	1	4.45774e-47	78	320				
TP53AIP1	63970	broad.mit.edu	37	11	128807455	128807455	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128807455C>T	ENST00000531399.1	-	2	351				TP53AIP1_ENST00000602346.1_Missense_Mutation_p.A87T|TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000530777.1_Intron	NM_022112.2	NP_071395.2	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1						apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				large_intestine(1)|lung(1)|skin(1)	3						GACCCAGATGCTGTCACTGGG	0.582																																						ENST00000602346.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(259-261)Gca>Aca		tumor protein p53 regulated apoptosis inducing protein 1							64.0	60.0	61.0					11																	128807455		2201	4297	6498	SO:0001627	intron_variant	63970				apoptosis	mitochondrion		g.chr11:128807455C>T	AB045831	CCDS8480.1, CCDS8480.2, CCDS55797.1, CCDS55798.1, CCDS58195.1	11q24.3	2011-01-26	2009-03-09		ENSG00000120471	ENSG00000120471			29984	protein-coding gene	gene with protein product		605426				11030628, 12019168	Standard	NM_022112		Approved	p53AIP1	uc021qsd.1	Q9HCN2		ENST00000531399.1:c.141+117G>A	11.37:g.128807455C>T						TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron	p.A87T	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN			2	468	-			0					Q6NT40|Q7Z6F7|Q9HCN0|Q9HCN1	Missense_Mutation	SNP	ENST00000531399.1	37	c.259G>A	CCDS8480.2	.	.	.	.	.	.	.	.	.	.	c	2.487	-0.318344	0.05386	.	.	ENSG00000120471	ENST00000263583	.	.	.	1.39	-2.07	0.07276	.	.	.	.	.	T	0.21509	0.0518	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	7	0.19590	T	0.45	.	5.1737	0.15124	0.0:0.4074:0.0:0.5926	.	87	Q9HCN2-3	.	T	87	.	ENSP00000263583:A87T	A	-	1	0	TP53AIP1	128312665	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.164000	0.09983	-0.721000	0.04929	-0.876000	0.02978	GCA		0.582	TP53AIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386244.1	NM_022112		14	283	0	0	0	1	0	14	283				
ZFHX3	463	broad.mit.edu	37	16	72829708	72829708	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829708C>A	ENST00000268489.5	-	9	7545	c.6873G>T	c.(6871-6873)caG>caT	p.Q2291H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2291					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTCGGGCATTCTGAAACCACA	0.453																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6871-6873)caG>caT		zinc finger homeobox 3							145.0	148.0	147.0					16																	72829708		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829708C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6873G>T	16.37:g.72829708C>A	ENSP00000268489:p.Gln2291His					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	p.Q2291H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7545	-		Ovarian(137;0.13)	2291					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6873G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246188	0.39697	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.97688	-4.49;-4.49	5.65	0.87	0.19102	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47852	D	0.000215	D	0.99077	0.9683	H	0.98577	4.27	0.53688	D	0.99997	D	0.69078	0.997	D	0.85130	0.997	D	0.98597	1.0657	10	0.87932	D	0	.	10.672	0.45764	0.0:0.7574:0.0:0.2426	.	2291	Q15911	ZFHX3_HUMAN	H	2291;1377	ENSP00000268489:Q2291H;ENSP00000438926:Q1377H	ENSP00000268489:Q2291H	Q	-	3	2	ZFHX3	71387209	0.848000	0.29623	1.000000	0.80357	0.998000	0.95712	-0.028000	0.12350	0.189000	0.20188	0.561000	0.74099	CAG		0.453	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		181	935	1	0	3.52435e-65	1	4.45622e-65	181	935				
PRICKLE2	166336	broad.mit.edu	37	3	64084844	64084844	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64084844G>A	ENST00000295902.6	-	8	3003	c.2418C>T	c.(2416-2418)agC>agT	p.S806S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S862S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	806					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCAGCTCATCGCTTGTGACGT	0.537																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2416-2418)agC>agT		prickle homolog 2 (Drosophila)							93.0	90.0	91.0					3																	64084844		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084844G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2418C>T	3.37:g.64084844G>A						RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S862S	p.S806S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	3003	-		Lung NSC(201;0.136)	806					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.2418C>T	CCDS2902.1																																																																																				0.537	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		97	441	0	0	0	1	0	97	441				
CPSF2	53981	broad.mit.edu	37	14	92620736	92620736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92620736T>C	ENST00000298875.4	+	10	1460	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	392					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGGAAAGAACTTGAAGAATAC	0.328																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(1174-1176)cTt>cCt		cleavage and polyadenylation specific factor 2, 100kDa							59.0	59.0	59.0					14																	92620736		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92620736T>C	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1175T>C	14.37:g.92620736T>C	ENSP00000298875:p.Leu392Pro						p.L392P	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	10	1460	+		all_cancers(154;0.0766)	392					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.1175T>C	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476771	0.84640	.	.	ENSG00000165934	ENST00000298875	T	0.57907	0.37	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79914	-0.1602	10	0.66056	D	0.02	.	16.0967	0.81129	0.0:0.0:0.0:1.0	.	392	Q9P2I0	CPSF2_HUMAN	P	392	ENSP00000298875:L392P	ENSP00000298875:L392P	L	+	2	0	CPSF2	91690489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.189000	0.77747	2.263000	0.75096	0.379000	0.24179	CTT		0.328	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			32	84	0	0	0	1	0	32	84				
PPP2R2A	5520	broad.mit.edu	37	8	26151208	26151208	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26151208T>C	ENST00000380737.3	+	2	363	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R	PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	12					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGATATTCAGTGGTGTTTTTC	0.368																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(34-36)Tgg>Cgg		protein phosphatase 2, regulatory subunit B, alpha							163.0	156.0	158.0					8																	26151208		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26151208T>C	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.34T>C	8.37:g.26151208T>C	ENSP00000370113:p.Trp12Arg					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R|PPP2R2A_ENST00000523473.1_3'UTR	p.W12R	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	2	363	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.34T>C	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326202	0.41197	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.42131	1.0;0.98	5.69	5.69	0.88448	.	0.000000	0.64402	U	0.000001	T	0.71426	0.3338	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.76575	0.988;0.98	T	0.78661	-0.2117	10	0.72032	D	0.01	-13.4676	14.9406	0.70992	0.0:0.0:0.0:1.0	.	22;12	B4E1T7;P63151	.;2ABA_HUMAN	R	12;22	ENSP00000370113:W12R;ENSP00000325074:W22R	ENSP00000325074:W22R	W	+	1	0	PPP2R2A	26207125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.162000	0.67917	0.460000	0.39030	TGG		0.368	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		61	275	0	0	0	1	0	61	275				
PPEF2	5470	broad.mit.edu	37	4	76794284	76794284	+	Missense_Mutation	SNP	C	C	T	rs143649959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76794284C>T	ENST00000286719.7	-	12	1858	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	501	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCCACCTTGCGGTTGTGACA	0.488																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1501-1503)cGc>cAc		protein phosphatase, EF-hand calcium binding domain 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	120.0	123.0		1502	4.8	1.0	4	dbSNP_134	123	0,8600		0,0,4300	no	missense	PPEF2	NM_006239.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	501/754	76794284	1,13005	2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76794284C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1502G>A	4.37:g.76794284C>T	ENSP00000286719:p.Arg501His						p.R501H	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1858	-			501			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1502G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985700	0.53934	2.27E-4	0.0	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05786	3.39	4.85	4.85	0.62838	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.110801	0.64402	D	0.000006	T	0.21022	0.0506	M	0.68593	2.085	0.46222	D	0.998931	P;D	0.89917	0.954;1.0	P;D	0.64506	0.49;0.926	T	0.00178	-1.1951	10	0.44086	T	0.13	-11.032	15.4928	0.75624	0.0:1.0:0.0:0.0	.	501;501	O14830-2;O14830	.;PPE2_HUMAN	H	501	ENSP00000286719:R501H	ENSP00000286719:R501H	R	-	2	0	PPEF2	77013308	1.000000	0.71417	0.999000	0.59377	0.010000	0.07245	7.061000	0.76699	2.518000	0.84900	0.563000	0.77884	CGC		0.488	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		62	223	0	0	0	1	0	62	223				
ZNF528	84436	broad.mit.edu	37	19	52919388	52919388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52919388G>A	ENST00000360465.3	+	7	1709	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATACGACATCGAAAAACTCAT	0.398																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1282-1284)cGa>cAa		zinc finger protein 528							75.0	76.0	76.0					19																	52919388		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919388G>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1283G>A	19.37:g.52919388G>A	ENSP00000353652:p.Arg428Gln					ZNF528_ENST00000391788.2_3'UTR	p.R428Q	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1709	+			428					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1283G>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484420	0.01027	.	.	ENSG00000167555	ENST00000360465	T	0.36878	1.23	1.97	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	N	0.16066	0.365	0.09310	N	1	B	0.32573	0.376	B	0.16289	0.015	T	0.27673	-1.0067	9	0.02654	T	1	.	2.9264	0.05786	0.557:0.0:0.2562:0.1869	.	428	Q3MIS6	ZN528_HUMAN	Q	428	ENSP00000353652:R428Q	ENSP00000353652:R428Q	R	+	2	0	ZNF528	57611200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.143000	0.10296	-1.027000	0.03325	-1.087000	0.02190	CGA		0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		61	312	0	0	0	1	0	61	312				
PRUNE2	158471	broad.mit.edu	37	9	79320449	79320449	+	Silent	SNP	G	G	A	rs41288769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320449G>A	ENST00000376718.3	-	8	6864	c.6741C>T	c.(6739-6741)gaC>gaT	p.D2247D	PRUNE2_ENST00000428286.1_Silent_p.D1888D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2247					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAAGAACCGTCACCTTCTG	0.448																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5662-5664)gaC>gaT		prune homolog 2 (Drosophila)		G		1,3135		0,1,1567	59.0	55.0	56.0		6741	-8.9	0.0	9	dbSNP_127	56	4,7160		0,4,3578	no	coding-synonymous	PRUNE2	NM_015225.2		0,5,5145	AA,AG,GG		0.0558,0.0319,0.0485		2247/3089	79320449	5,10295	1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320449G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6741C>T	9.37:g.79320449G>A						PRUNE2_ENST00000376718.3_Silent_p.D2247D	p.D1888D			Q8WUY3	PRUN2_HUMAN			8	6864	-			2247					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.5664C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217713	0.06101	3.19E-4	5.58E-4	ENSG00000106772	ENST00000426088	.	.	.	5.83	-8.89	0.00785	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	-1.7271	4.4751	0.11731	0.5482:0.1679:0.1996:0.0843	rs41288769	.	.	.	W	1569	.	.	R	-	1	2	PRUNE2	78510269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.800000	0.04555	-1.221000	0.02591	-0.345000	0.07892	CGG		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		39	177	0	0	0	1	0	39	177				
MKRN3	7681	broad.mit.edu	37	15	23811271	23811271	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23811271C>A	ENST00000314520.3	+	1	818	c.342C>A	c.(340-342)aaC>aaA	p.N114K	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	114					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGGGGAGAACTGTCGCTATT	0.607																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(340-342)aaC>aaA		makorin ring finger protein 3							62.0	63.0	62.0					15																	23811271		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811271C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.342C>A	15.37:g.23811271C>A	ENSP00000313881:p.Asn114Lys					MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.N114K	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	818	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	114						Missense_Mutation	SNP	ENST00000314520.3	37	c.342C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896754	0.52121	.	.	ENSG00000179455	ENST00000314520	T	0.43294	0.95	3.94	-0.124	0.13523	Zinc finger, CCCH-type (2);	0.251054	0.38005	N	0.001852	T	0.19046	0.0457	N	0.21282	0.65	0.50313	D	0.999868	B	0.33266	0.404	B	0.24848	0.056	T	0.05273	-1.0895	10	0.22706	T	0.39	.	4.5958	0.12329	0.0:0.4436:0.3527:0.2036	.	114	Q13064	MKRN3_HUMAN	K	114	ENSP00000313881:N114K	ENSP00000313881:N114K	N	+	3	2	MKRN3	21362364	0.974000	0.33945	0.990000	0.47175	0.972000	0.66771	0.082000	0.14847	-0.002000	0.14469	0.563000	0.77884	AAC		0.607	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		78	362	1	0	1.91593e-42	1	2.3328e-42	78	362				
RNLS	55328	broad.mit.edu	37	10	90122337	90122337	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90122337G>T	ENST00000331772.4	-	5	694	c.672C>A	c.(670-672)gtC>gtA	p.V224V	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.V141V|RNLS_ENST00000371947.3_Silent_p.V224V	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	224					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TATCAATGGAGACGAAGCGTA	0.433																																						ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(670-672)gtC>gtA		renalase, FAD-dependent amine oxidase							161.0	153.0	156.0					10																	90122337		2203	4300	6503	SO:0001819	synonymous_variant	55328					extracellular region	oxidoreductase activity	g.chr10:90122337G>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.672C>A	10.37:g.90122337G>T						RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Silent_p.V224V|RNLS_ENST00000437752.1_Silent_p.V141V	p.V224V	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			5	2011	-			224					Q9BS33|Q9NUP8	Silent	SNP	ENST00000331772.4	37	c.672C>A	CCDS31239.1																																																																																				0.433	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		59	323	1	0	9.64103e-21	1	1.08239e-20	59	323				
JMY	133746	broad.mit.edu	37	5	78611996	78611996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78611996G>T	ENST00000396137.4	+	10	3295	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	945					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGTTTTGAGAGAATCCTTCAC	0.413																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2833-2835)Gaa>Taa		junction mediating and regulatory protein, p53 cofactor							89.0	83.0	85.0					5																	78611996		1872	4109	5981	SO:0001587	stop_gained	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78611996G>T	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2833G>T	5.37:g.78611996G>T	ENSP00000379441:p.Glu945*					JMY_ENST00000412001.1_Intron	p.E945*	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	10	3295	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	945					A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	ENST00000396137.4	37	c.2833G>T	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	45	11.392913	0.99555	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.65	5.65	0.86999	.	0.393126	0.29631	N	0.011607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.7184	0.96132	0.0:0.0:1.0:0.0	.	.	.	.	X	934;945	.	ENSP00000282259:E934X	E	+	1	0	JMY	78647752	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.921000	0.63397	2.672000	0.90937	0.643000	0.83706	GAA		0.413	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		54	168	1	0	1.00221e-16	1	1.10252e-16	54	168				
ZPBP2	124626	broad.mit.edu	37	17	38033007	38033007	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38033007A>G	ENST00000348931.4	+	8	1153	c.962A>G	c.(961-963)tAt>tGt	p.Y321C	ZPBP2_ENST00000377940.3_Missense_Mutation_p.Y299C|ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	321					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCCTTACCTATGGAGCTAAA	0.408																																						ENST00000377940.3																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(895-897)tAt>tGt		zona pellucida binding protein 2							203.0	188.0	193.0					17																	38033007		2203	4300	6503	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38033007A>G	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.962A>G	17.37:g.38033007A>G	ENSP00000335384:p.Tyr321Cys					ZPBP2_ENST00000348931.4_Missense_Mutation_p.Y321C|ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C	p.Y299C	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	1035	+	Colorectal(19;0.000442)		321					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.896A>G	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	A	7.367	0.626078	0.14257	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.61627	0.09;0.09	5.96	4.89	0.63831	.	0.000000	0.56097	D	0.000023	T	0.73536	0.3599	M	0.73962	2.25	0.37904	D	0.931149	B;D	0.89917	0.36;1.0	B;D	0.97110	0.181;1.0	T	0.78206	-0.2294	10	0.87932	D	0	-19.5048	10.4054	0.44254	0.9256:0.0:0.0744:0.0	.	299;321	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	C	321;299	ENSP00000335384:Y321C;ENSP00000367174:Y299C	ENSP00000335384:Y321C	Y	+	2	0	ZPBP2	35286533	0.986000	0.35501	0.350000	0.25708	0.502000	0.33828	3.932000	0.56537	1.082000	0.41137	0.533000	0.62120	TAT		0.408	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		154	779	0	0	0	1	0	154	779				
AOC3	8639	broad.mit.edu	37	17	41004951	41004951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004951G>A	ENST00000308423.2	+	1	1751	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	531					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGTGGATCTGGATGTAGCAGG	0.502																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(1591-1593)Gat>Aat		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						45.0	42.0	43.0					17																	41004951		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004951G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1591G>A	17.37:g.41004951G>A	ENSP00000312326:p.Asp531Asn						p.D531N	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1751	+		Breast(137;0.000143)	531					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1591G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042693	0.75732	.	.	ENSG00000131471	ENST00000308423	T	0.04502	3.61	5.26	5.26	0.73747	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43278	-0.9401	10	0.49607	T	0.09	.	19.2423	0.93888	0.0:0.0:1.0:0.0	.	531	Q16853	AOC3_HUMAN	N	531	ENSP00000312326:D531N	ENSP00000312326:D531N	D	+	1	0	AOC3	38258477	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	9.821000	0.99360	2.638000	0.89438	0.655000	0.94253	GAT		0.502	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		48	193	0	0	0	1	0	48	193				
HAUS8	93323	broad.mit.edu	37	19	17166810	17166810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17166810G>A	ENST00000253669.5	-	9	838	c.648C>T	c.(646-648)atC>atT	p.I216I	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Silent_p.I155I|HAUS8_ENST00000448593.2_Silent_p.I215I			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	216					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TGAGCATCTCGATCTGTAAGC	0.562																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(463-465)atC>atT		HAUS augmin-like complex, subunit 8							134.0	116.0	122.0					19																	17166810		2203	4300	6503	SO:0001819	synonymous_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17166810G>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.648C>T	19.37:g.17166810G>A						HAUS8_ENST00000448593.2_Silent_p.I215I|HAUS8_ENST00000253669.5_Silent_p.I216I	p.I155I			Q9BT25	HAUS8_HUMAN			8	2483	-			216					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Silent	SNP	ENST00000253669.5	37	c.465C>T	CCDS32948.1																																																																																				0.562	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		9	527	0	0	0	1	0	9	527				
ZCCHC3	85364	broad.mit.edu	37	20	279106	279106	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:279106C>A	ENST00000382352.3	+	1	1370	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	293							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGTTTGGGATCTGGACCGGGG	0.647																																						ENST00000382352.3																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(877-879)atC>atA		zinc finger, CCHC domain containing 3							62.0	68.0	66.0					20																	279106		2062	4199	6261	SO:0001819	synonymous_variant	85364						nucleic acid binding|zinc ion binding	g.chr20:279106C>A	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.879C>A	20.37:g.279106C>A							p.I293I	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	1370	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	293					Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	c.879C>A	CCDS42844.1																																																																																				0.647	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			99	480	1	0	1.10825e-40	1	1.34457e-40	99	480				
COLEC12	81035	broad.mit.edu	37	18	335176	335176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335176C>T	ENST00000400256.3	-	6	1589	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	461	Collagen-like 1.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCAGTTGGGCCAGGGGGTCC	0.592																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1381-1383)gGc>gAc		collectin sub-family member 12							35.0	39.0	38.0					18																	335176		2197	4291	6488	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335176C>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1382G>A	18.37:g.335176C>T	ENSP00000383115:p.Gly461Asp						p.G461D	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			6	1589	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	461			Collagen-like 1.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1382G>A	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695493	0.48202	.	.	ENSG00000158270	ENST00000400256	D	0.99532	-6.1	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97114	0.9806	10	0.87932	D	0	-14.1091	19.543	0.95281	0.0:1.0:0.0:0.0	.	461	Q5KU26	COL12_HUMAN	D	461	ENSP00000383115:G461D	ENSP00000383115:G461D	G	-	2	0	COLEC12	325176	1.000000	0.71417	0.795000	0.32087	0.473000	0.32948	7.764000	0.85297	2.601000	0.87937	0.591000	0.81541	GGC		0.592	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			62	303	0	0	0	1	0	62	303				
IKBKAP	8518	broad.mit.edu	37	9	111685171	111685171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111685171G>A	ENST00000374647.5	-	6	810	c.503C>T	c.(502-504)aCa>aTa	p.T168I	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	168					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGGAACTGTGTCTCCTTCCT	0.398																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(502-504)aCa>aTa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							211.0	185.0	194.0					9																	111685171		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111685171G>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.503C>T	9.37:g.111685171G>A	ENSP00000363779:p.Thr168Ile					IKBKAP_ENST00000537196.1_Intron	p.T168I	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			6	810	-			168					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.503C>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761755	0.89932	.	.	ENSG00000070061	ENST00000374647	T	0.55930	0.49	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85921	0.1446	10	0.87932	D	0	-12.1967	17.1551	0.86790	0.0:0.0:1.0:0.0	.	168	O95163	ELP1_HUMAN	I	168	ENSP00000363779:T168I	ENSP00000363779:T168I	T	-	2	0	IKBKAP	110724992	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	9.088000	0.94132	2.639000	0.89480	0.650000	0.86243	ACA		0.398	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			112	453	0	0	0	1	0	112	453				
C10orf54	64115	broad.mit.edu	37	10	73521597	73521597	+	Missense_Mutation	SNP	C	C	T	rs374460058		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521597C>T	ENST00000394957.3	-	2	327	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	90	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGTGAGGTTGCGGATGGGCCG	0.657																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(268-270)cGc>cAc		chromosome 10 open reading frame 54							105.0	103.0	104.0					10																	73521597		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521597C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.269G>A	10.37:g.73521597C>T	ENSP00000378409:p.Arg90His					C10orf54_ENST00000481568.1_5'UTR|CDH23_ENST00000224721.6_Intron	p.R90H	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	327	-			90			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.269G>A	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727148	0.89390	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.58358	0.34	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047659	0.85682	D	0.000000	T	0.70351	0.3214	M	0.71581	2.175	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.72500	-0.4274	10	0.72032	D	0.01	-15.4596	13.1811	0.59655	0.0:0.9272:0.0:0.0728	.	86;90	Q2TA85;Q9H7M9	.;GI24_HUMAN	H	90;86	ENSP00000378409:R90H	ENSP00000263569:R86H	R	-	2	0	C10orf54	73191603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.786000	0.55431	2.720000	0.93068	0.655000	0.94253	CGC		0.657	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		51	241	0	0	0	1	0	51	241				
ICAM1	3383	broad.mit.edu	37	19	10395085	10395085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10395085C>T	ENST00000264832.3	+	5	1257	c.932C>T	c.(931-933)cCg>cTg	p.P311L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	311					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.P311L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCAGGCTTTCCGGCGCCCAAC	0.612																																						ENST00000264832.3																			1	Substitution - Missense(1)	p.P311L(1)	ovary(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(931-933)cCg>cTg		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)																																			SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395085C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.932C>T	19.37:g.10395085C>T	ENSP00000264832:p.Pro311Leu					CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L	p.P311L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		5	1257	+			311					B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.932C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645558	0.29246	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.16743	2.32;2.32	4.1	0.43	0.16515	Immunoglobulin-like fold (1);	0.337248	0.21388	N	0.075359	T	0.27098	0.0664	L	0.58428	1.81	0.09310	N	0.999999	D;P	0.89917	1.0;0.777	D;B	0.77557	0.99;0.141	T	0.13683	-1.0500	10	0.21540	T	0.41	-13.2516	4.4224	0.11486	0.3955:0.4935:0.0:0.111	.	89;311	E7ESS4;P05362	.;ICAM1_HUMAN	L	311;89	ENSP00000264832:P311L;ENSP00000413124:P89L	ENSP00000264832:P311L	P	+	2	0	ICAM1	10256085	0.209000	0.23505	0.025000	0.17156	0.014000	0.08584	0.929000	0.28844	0.079000	0.16929	0.407000	0.27541	CCG		0.612	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			94	392	0	0	0	1	0	94	392				
ZNF544	27300	broad.mit.edu	37	19	58773074	58773074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773074C>A	ENST00000596652.1	+	6	1336	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|ZNF544_ENST00000269829.4_Missense_Mutation_p.L368I|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTGTTGTAAGCTCATACACCA	0.438																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1102-1104)Ctc>Atc		zinc finger protein 544							85.0	81.0	82.0					19																	58773074		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773074C>A	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1102C>A	19.37:g.58773074C>A	ENSP00000469635:p.Leu368Ile					CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.L368I|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000596825.1_3'UTR	p.L368I	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1576	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	368					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1102C>A	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.364951	0.01235	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.15139	2.45;2.45	2.54	1.4	0.22301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.03253	-0.375	0.19300	N	0.999974	B;B;B	0.30542	0.215;0.017;0.284	B;B;B	0.22880	0.042;0.005;0.018	T	0.40098	-0.9581	9	0.10377	T	0.69	.	5.7326	0.18049	0.0:0.8304:0.0:0.1696	.	340;340;368	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	I	368;340;32	ENSP00000269829:L368I;ENSP00000394341:L340I	ENSP00000269829:L368I	L	+	1	0	ZNF544	63464886	0.000000	0.05858	0.012000	0.15200	0.191000	0.23601	-0.664000	0.05292	0.355000	0.24131	0.491000	0.48974	CTC		0.438	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		57	294	1	0	2.30037e-20	1	2.57709e-20	57	294				
RCAN1	1827	broad.mit.edu	37	21	35890400	35890400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35890400C>T	ENST00000313806.4	-	4	871	c.741G>A	c.(739-741)acG>acA	p.T247T	RCAN1_ENST00000481448.1_Silent_p.T237T|RCAN1_ENST00000381135.3_Silent_p.T237T|RCAN1_ENST00000381132.2_Silent_p.T192T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Silent_p.T166T|RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000482533.1_Silent_p.T112T	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	247					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGTGGATCGGCGTGTACTCCG	0.498																																						ENST00000481448.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(709-711)acG>acA		regulator of calcineurin 1							178.0	157.0	164.0					21																	35890400		2203	4300	6503	SO:0001819	synonymous_variant	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35890400C>T		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.741G>A	21.37:g.35890400C>T						RCAN1_ENST00000399272.1_Silent_p.T166T|RCAN1_ENST00000313806.4_Silent_p.T247T|RCAN1_ENST00000381135.3_Silent_p.T237T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000482533.1_Silent_p.T112T|RCAN1_ENST00000381132.2_Silent_p.T192T	p.T237T			P53805	RCAN1_HUMAN			5	1197	-			247					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Silent	SNP	ENST00000313806.4	37	c.711G>A	CCDS13637.1																																																																																				0.498	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			40	679	0	0	0	1	0	40	679				
PNLIP	5406	broad.mit.edu	37	10	118307977	118307977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118307977C>A	ENST00000369221.2	+	4	335	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	103					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.433																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(307-309)Ctg>Atg		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						132.0	128.0	129.0					10																	118307977		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118307977C>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.307C>A	10.37:g.118307977C>A	ENSP00000358223:p.Leu103Met					PNLIP_ENST00000470562.1_3'UTR	p.L103M	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	4	335	+			103					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.307C>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072303	0.36566	.	.	ENSG00000175535	ENST00000369221	D	0.91180	-2.8	5.39	3.51	0.40186	Lipase, N-terminal (1);	0.555568	0.16090	N	0.230103	D	0.91663	0.7365	L	0.46157	1.445	0.40797	D	0.983309	D	0.76494	0.999	D	0.75484	0.986	D	0.88885	0.3342	10	0.33940	T	0.23	.	7.0787	0.25219	0.1402:0.7053:0.0:0.1544	.	103	P16233	LIPP_HUMAN	M	103	ENSP00000358223:L103M	ENSP00000358223:L103M	L	+	1	2	PNLIP	118297967	0.393000	0.25237	0.981000	0.43875	0.485000	0.33311	-0.281000	0.08456	1.517000	0.48917	0.585000	0.79938	CTG		0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		121	557	1	0	2.70677e-71	1	3.44148e-71	121	557				
BMP3	651	broad.mit.edu	37	4	81967161	81967161	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967161T>A	ENST00000282701.2	+	2	906	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	196					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGATATTATGTCCTGGCTGTC	0.443																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(586-588)Tcc>Acc		bone morphogenetic protein 3							134.0	143.0	140.0					4																	81967161		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967161T>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.586T>A	4.37:g.81967161T>A	ENSP00000282701:p.Ser196Thr						p.S196T	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	906	+			196					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.586T>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.663966	0.03428	.	.	ENSG00000152785	ENST00000282701	T	0.65916	-0.18	5.08	-2.37	0.06643	Transforming growth factor-beta, N-terminal (1);	0.315470	0.40064	N	0.001194	T	0.45657	0.1353	M	0.66939	2.045	0.27087	N	0.962947	B	0.11235	0.004	B	0.12156	0.007	T	0.20438	-1.0275	10	0.13470	T	0.59	.	1.5263	0.02526	0.1518:0.1349:0.2093:0.504	.	196	P12645	BMP3_HUMAN	T	196	ENSP00000282701:S196T	ENSP00000282701:S196T	S	+	1	0	BMP3	82186185	0.197000	0.23362	0.056000	0.19401	0.024000	0.10985	0.753000	0.26376	-0.129000	0.11620	-0.313000	0.08912	TCC		0.443	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			151	733	0	0	0	1	0	151	733				
GBP4	115361	broad.mit.edu	37	1	89655896	89655896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89655896G>A	ENST00000355754.6	-	7	1119	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	341						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTCTGCACAGCCGCTGGGTT	0.592																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1021-1023)gCt>gTt		guanylate binding protein 4							65.0	62.0	63.0					1																	89655896		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89655896G>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1022C>T	1.37:g.89655896G>A	ENSP00000359490:p.Ala341Val						p.A341V	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	7	1119	-			341					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1022C>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492929	0.84962	.	.	ENSG00000162654	ENST00000355754	T	0.09817	2.94	5.07	5.07	0.68467	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.90977	3.165	0.38393	D	0.945461	D	0.89917	1.0	D	0.72075	0.976	T	0.39187	-0.9626	10	0.87932	D	0	.	16.3386	0.83074	0.0:0.0:1.0:0.0	.	341	Q96PP9	GBP4_HUMAN	V	341	ENSP00000359490:A341V	ENSP00000359490:A341V	A	-	2	0	GBP4	89428484	0.999000	0.42202	0.181000	0.23098	0.005000	0.04900	4.089000	0.57685	2.797000	0.96272	0.655000	0.94253	GCT		0.592	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		75	285	0	0	0	1	0	75	285				
ANKRD17	26057	broad.mit.edu	37	4	73964157	73964157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73964157C>T	ENST00000358602.4	-	26	4770	c.4654G>A	c.(4654-4656)Gca>Aca	p.A1552T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1552					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGAACCTGCCAAAGTTGTC	0.368																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4654-4656)Gca>Aca		ankyrin repeat domain 17							74.0	73.0	73.0					4																	73964157		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73964157C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4654G>A	4.37:g.73964157C>T	ENSP00000351416:p.Ala1552Thr					ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T	p.A1552T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	4770	-	Breast(15;0.000295)		1552					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4654G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793271	0.31685	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.63913	-0.07;-0.02;-0.04	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	T	0.40743	0.1129	N	0.05078	-0.115	0.40466	D	0.98029	B;B;B;B	0.20550	0.046;0.046;0.027;0.027	B;B;B;B	0.21360	0.034;0.034;0.015;0.006	T	0.44003	-0.9356	10	0.02654	T	1	.	19.7158	0.96119	0.0:1.0:0.0:0.0	.	1551;1301;1552;1439	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	1552;1301;1439	ENSP00000351416:A1552T;ENSP00000332265:A1301T;ENSP00000427151:A1439T	ENSP00000332265:A1301T	A	-	1	0	ANKRD17	74183021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.465000	0.53064	2.669000	0.90835	0.591000	0.81541	GCA		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		67	321	0	0	0	1	0	67	321				
GLDN	342035	broad.mit.edu	37	15	51696637	51696637	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51696637C>A	ENST00000335449.6	+	10	1398	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	GLDN_ENST00000396399.2_Missense_Mutation_p.L324I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	448	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTCGAGCATTCTTGTAGCACA	0.448																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1342-1344)Ctt>Att		gliomedin							159.0	147.0	151.0					15																	51696637		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696637C>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1342C>A	15.37:g.51696637C>A	ENSP00000335196:p.Leu448Ile					GLDN_ENST00000396399.2_Missense_Mutation_p.L324I	p.L448I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1398	+			448			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1342C>A	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	4.397	0.073370	0.08485	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88975	-2.45;-2.45	5.71	0.907	0.19321	Olfactomedin-like (3);	0.402479	0.18238	N	0.147340	T	0.79240	0.4412	L	0.28115	0.83	0.31440	N	0.672055	B	0.25667	0.131	B	0.30029	0.11	T	0.71334	-0.4624	10	0.36615	T	0.2	.	5.3883	0.16229	0.1935:0.3411:0.3907:0.0747	.	448	Q6ZMI3	GLDN_HUMAN	I	448;324;324	ENSP00000335196:L448I;ENSP00000379681:L324I	ENSP00000335196:L448I	L	+	1	0	GLDN	49483929	1.000000	0.71417	0.011000	0.14972	0.156000	0.22039	1.863000	0.39459	0.296000	0.22592	0.563000	0.77884	CTT		0.448	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		63	616	1	0	7.41606e-26	1	8.52628e-26	63	616				
SYNE2	23224	broad.mit.edu	37	14	64691244	64691244	+	Silent	SNP	C	C	T	rs546213944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64691244C>T	ENST00000344113.4	+	113	20591	c.20379C>T	c.(20377-20379)tcC>tcT	p.S6793S	SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000458046.2_Silent_p.S464S|SYNE2_ENST00000554805.1_Silent_p.S576S|SYNE2_ENST00000554584.1_Silent_p.S6709S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.S3450S|SYNE2_ENST00000357395.3_Silent_p.S3178S|SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000358025.3_Silent_p.S6816S|SYNE2_ENST00000555022.1_Silent_p.S671S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6793					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGCAACATCCGTGCCAGCTC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18608	0.0		0.0	False		,,,				2504	0.0					ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9532-9534)tcC>tcT		spectrin repeat containing, nuclear envelope 2							75.0	77.0	76.0					14																	64691244		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64691244C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20379C>T	14.37:g.64691244C>T						SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000358025.3_Silent_p.S6816S|SYNE2_ENST00000458046.2_Silent_p.S464S|SYNE2_ENST00000555022.1_Silent_p.S671S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000344113.4_Silent_p.S6793S|SYNE2_ENST00000554805.1_Silent_p.S576S|SYNE2_ENST00000555002.1_Silent_p.S3450S|SYNE2_ENST00000554584.1_Silent_p.S6709S	p.S3178S			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	114	20678	+			6793					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.9534C>T	CCDS41963.1																																																																																				0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		14	498	0	0	0	1	0	14	498				
ITGB4	3691	broad.mit.edu	37	17	73752585	73752585	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73752585C>A	ENST00000200181.3	+	36	4971	c.4784C>A	c.(4783-4785)tCc>tAc	p.S1595Y	ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1595	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAACCACTCCTACGTGTTC	0.657																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4783-4785)tCc>tAc		integrin, beta 4							104.0	106.0	105.0					17																	73752585		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73752585C>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4784C>A	17.37:g.73752585C>A	ENSP00000200181:p.Ser1595Tyr					ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y	p.S1595Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		36	4971	+	all_cancers(13;1.5e-07)		1595			Fibronectin type-III 3.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.4784C>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153050	0.57259	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.58210	0.35;0.35;0.35	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77981	-0.2383	10	0.87932	D	0	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	1578;1525;1595	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	Y	1595;1578;1578	ENSP00000200181:S1595Y;ENSP00000344079:S1578Y;ENSP00000400217:S1578Y	ENSP00000200181:S1595Y	S	+	2	0	ITGB4	71264180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.590000	0.87494	0.455000	0.32223	TCC		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			117	625	1	0	6.42063e-57	1	8.038e-57	117	625				
DNAH3	55567	broad.mit.edu	37	16	20959914	20959914	+	Missense_Mutation	SNP	C	C	T	rs187501827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20959914C>T	ENST00000261383.3	-	57	11233	c.11234G>A	c.(11233-11235)cGt>cAt	p.R3745H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3745					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGCAGGAGACGCCGGTCTTT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18798	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(11233-11235)cGt>cAt		dynein, axonemal, heavy chain 3							103.0	91.0	95.0					16																	20959914		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20959914C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11234G>A	16.37:g.20959914C>T	ENSP00000261383:p.Arg3745His					DNAH3_ENST00000415178.1_3'UTR	p.R3745H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	57	11233	-			3745					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11234G>A	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.103288	0.94245	.	.	ENSG00000158486	ENST00000261383	T	0.12984	2.63	5.9	4.94	0.65067	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68884	-0.5291	10	0.72032	D	0.01	.	16.4922	0.84205	0.1321:0.8679:0.0:0.0	.	3745	Q8TD57	DYH3_HUMAN	H	3745	ENSP00000261383:R3745H	ENSP00000261383:R3745H	R	-	2	0	DNAH3	20867415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.482000	0.48325	0.650000	0.86243	CGT		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		39	146	0	0	0	1	0	39	146				
UBLCP1	134510	broad.mit.edu	37	5	158696032	158696032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158696032G>T	ENST00000296786.6	+	2	435	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	37	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCTTACAGGAGTTCTTCC	0.383																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(109-111)Gga>Tga		ubiquitin-like domain containing CTD phosphatase 1							102.0	97.0	98.0					5																	158696032		2203	4300	6503	SO:0001587	stop_gained	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696032G>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.109G>T	5.37:g.158696032G>T	ENSP00000296786:p.Gly37*						p.G37*	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	435	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	37			Ubiquitin-like.		D3DQJ7|Q96DK5	Nonsense_Mutation	SNP	ENST00000296786.6	37	c.109G>T	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	40	8.445000	0.98815	.	.	ENSG00000164332	ENST00000296786	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-13.2913	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000296786:G37X	G	+	1	0	UBLCP1	158628610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.434000	0.97515	2.850000	0.98022	0.650000	0.86243	GGA		0.383	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		85	366	1	0	5.52034e-35	1	6.58082e-35	85	366				
ACOX2	8309	broad.mit.edu	37	3	58512232	58512232	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58512232T>C	ENST00000302819.5	-	10	1598	c.1307A>G	c.(1306-1308)tAc>tGc	p.Y436C	ACOX2_ENST00000459701.2_Missense_Mutation_p.Y422C	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	436					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCACCCTCGTAGGTACAGGA	0.602																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1306-1308)tAc>tGc		acyl-CoA oxidase 2, branched chain							78.0	62.0	68.0					3																	58512232		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58512232T>C	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1307A>G	3.37:g.58512232T>C	ENSP00000307697:p.Tyr436Cys					ACOX2_ENST00000459701.2_Missense_Mutation_p.Y422C	p.Y436C	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	10	1598	-			436					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1307A>G	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794993	0.50208	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.74737	-0.87;-0.87	4.26	3.08	0.35506	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.100654	0.43747	D	0.000538	D	0.88905	0.6564	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.89965	0.4089	10	0.87932	D	0	-24.8706	10.3272	0.43801	0.1475:0.0:0.0:0.8524	.	436	Q99424	ACOX2_HUMAN	C	422;436	ENSP00000418562:Y422C;ENSP00000307697:Y436C	ENSP00000307697:Y436C	Y	-	2	0	ACOX2	58487272	1.000000	0.71417	0.718000	0.30602	0.353000	0.29299	5.629000	0.67798	0.782000	0.33613	0.459000	0.35465	TAC		0.602	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			35	140	0	0	0	1	0	35	140				
FAM198B	51313	broad.mit.edu	37	4	159091910	159091910	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091910C>T	ENST00000296530.8	-	2	1239	c.618G>A	c.(616-618)agG>agA	p.R206R	FAM198B_ENST00000393807.5_Silent_p.R206R|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Silent_p.R206R|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000585682.1_Silent_p.R206R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	206						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CGCTGTAGATCCTAATGTTGC	0.632											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(616-618)agG>agA		family with sequence similarity 198, member B							53.0	58.0	56.0					4																	159091910		2203	4300	6503	SO:0001819	synonymous_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091910C>T		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.618G>A	4.37:g.159091910C>T			OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000585682.1_Silent_p.R206R|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Silent_p.R206R|FAM198B_ENST00000592057.1_Silent_p.R206R|FAM198B_ENST00000589306.1_Intron	p.R206R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	1239	-			206					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.618G>A	CCDS3798.1																																																																																				0.632	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		14	397	0	0	0	1	0	14	397				
ACCSL	390110	broad.mit.edu	37	11	44069708	44069708	+	Missense_Mutation	SNP	C	C	T	rs374220502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44069708C>T	ENST00000378832.1	+	1	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	41					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGGCCATGACGGAGCACTTC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20460	0.0		0.0	False		,,,				2504	0.0					ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(121-123)aCg>aTg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like		C	MET/THR	1,4197		0,1,2098	48.0	54.0	52.0		122	-1.2	0.0	11		52	1,8441		0,1,4220	no	missense	ACCSL	NM_001031854.2	81	0,2,6318	TT,TC,CC		0.0118,0.0238,0.0158	benign	41/569	44069708	2,12638	2099	4221	6320	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44069708C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.122C>T	11.37:g.44069708C>T	ENSP00000368109:p.Thr41Met						p.T41M	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			1	178	+			41						Missense_Mutation	SNP	ENST00000378832.1	37	c.122C>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633456	0.14322	2.38E-4	1.18E-4	ENSG00000205126	ENST00000378832	T	0.68331	-0.32	4.08	-1.16	0.09678	.	2.565330	0.01198	N	0.007510	T	0.39809	0.1092	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20174	-1.0283	10	0.41790	T	0.15	3.8656	0.992	0.01459	0.4968:0.1605:0.1907:0.152	.	41	Q4AC99	1A1L2_HUMAN	M	41	ENSP00000368109:T41M	ENSP00000368109:T41M	T	+	2	0	ACCSL	44026284	0.043000	0.20138	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-0.323000	0.08602	-1.127000	0.01993	ACG		0.592	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		88	366	0	0	0	1	0	88	366				
MTR	4548	broad.mit.edu	37	1	237054561	237054561	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237054561C>T	ENST00000366577.5	+	29	3530	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	MTR_ENST00000535889.1_Silent_p.L995L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1046	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGACATTCACCTGTACGCAGA	0.552																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3136-3138)Ctg>Ttg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						119.0	117.0	117.0					1																	237054561		2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237054561C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3136C>T	1.37:g.237054561C>T						MTR_ENST00000535889.1_Silent_p.L995L	p.L1046L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	29	3530	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1046			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.3136C>T	CCDS1614.1																																																																																				0.552	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		184	603	0	0	0	1	0	184	603				
PCDHGB2	56103	broad.mit.edu	37	5	140741634	140741634	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140741634C>T	ENST00000522605.1	+	1	1932	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTGGTCGCTGTGCGTG	0.687																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1930-1932)gtC>gtT									16.0	19.0	18.0					5																	140741634		1906	4113	6019	SO:0001819	synonymous_variant	0							g.chr5:140741634C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1932C>T	5.37:g.140741634C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V644V	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1932	+								Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.1932C>T	CCDS54924.1																																																																																				0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		32	156	0	0	0	1	0	32	156				
ADD3	120	broad.mit.edu	37	10	111877175	111877175	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:111877175A>G	ENST00000356080.4	+	5	929	c.562A>G	c.(562-564)Aat>Gat	p.N188D	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N188D|ADD3_ENST00000277900.8_Missense_Mutation_p.N188D	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	188						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TACAGCCTCCAATTTGGTATA	0.368																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(562-564)Aat>Gat		adducin 3 (gamma)							77.0	75.0	76.0					10																	111877175		2203	4300	6503	SO:0001583	missense	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111877175A>G	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.562A>G	10.37:g.111877175A>G	ENSP00000348381:p.Asn188Asp					ADD3_ENST00000360162.3_Missense_Mutation_p.N188D|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.N188D	p.N188D	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	5	927	+		Breast(234;0.052)|Lung NSC(174;0.223)	188					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	c.562A>G	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748606	0.89753	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.15603	2.41;2.41;2.41	5.8	4.65	0.58169	Class II aldolase/adducin, N-terminal (3);	0.168597	0.64402	D	0.000006	T	0.22437	0.0541	L	0.33668	1.02	0.42578	D	0.993209	P;P	0.36712	0.466;0.566	P;B	0.47864	0.559;0.423	T	0.02917	-1.1094	10	0.87932	D	0	-7.4886	12.0599	0.53557	0.9321:0.0:0.0679:0.0	.	188;188	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	D	188	ENSP00000353286:N188D;ENSP00000348381:N188D;ENSP00000277900:N188D	ENSP00000277900:N188D	N	+	1	0	ADD3	111867165	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.268000	0.78473	0.982000	0.38575	0.533000	0.62120	AAT		0.368	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		40	177	0	0	0	1	0	40	177				
STAB2	55576	broad.mit.edu	37	12	103984787	103984787	+	Missense_Mutation	SNP	C	C	T	rs371810591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103984787C>T	ENST00000388887.2	+	2	398	c.194C>T	c.(193-195)tCt>tTt	p.S65F	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGTGGCTCTGTAGGGGTT	0.468																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(193-195)tCt>tTt		stabilin 2							128.0	124.0	125.0					12																	103984787		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:103984787C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.194C>T	12.37:g.103984787C>T	ENSP00000373539:p.Ser65Phe						p.S65F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			2	398	+			65						Missense_Mutation	SNP	ENST00000388887.2	37	c.194C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111441	0.37242	.	.	ENSG00000136011	ENST00000388887	T	0.35421	1.31	6.02	5.11	0.69529	.	0.622630	0.16100	N	0.229582	T	0.42154	0.1190	L	0.55743	1.74	0.20489	N	0.999894	P	0.39576	0.679	B	0.43623	0.425	T	0.34453	-0.9828	10	0.56958	D	0.05	.	14.3393	0.66614	0.0:0.8517:0.1483:0.0	.	65	Q8WWQ8	STAB2_HUMAN	F	65	ENSP00000373539:S65F	ENSP00000373539:S65F	S	+	2	0	STAB2	102508917	0.029000	0.19370	0.020000	0.16555	0.007000	0.05969	2.230000	0.42999	1.500000	0.48636	0.655000	0.94253	TCT		0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			133	438	0	0	0	1	0	133	438				
TRIM5	85363	broad.mit.edu	37	11	5687305	5687305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5687305C>A	ENST00000380034.3	-	6	1030	c.774G>T	c.(772-774)gaG>gaT	p.E258D	TRIM5_ENST00000305836.5_Missense_Mutation_p.E258D|TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	258					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGTCACGTTCTCCGTCCTAA	0.408																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(772-774)gaG>gaT		tripartite motif containing 5							83.0	83.0	83.0					11																	5687305		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5687305C>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.774G>T	11.37:g.5687305C>A	ENSP00000369373:p.Glu258Asp					TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000380034.3_Missense_Mutation_p.E258D|TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D|TRIM5_ENST00000483835.1_5'UTR	p.E258D			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	6	1076	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	258					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.774G>T	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901831	0.33535	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853	T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9	3.84	-0.387	0.12463	.	1.506160	0.04073	N	0.308285	T	0.07052	0.0179	M	0.76838	2.35	0.09310	N	1	B;B;B	0.20261	0.043;0.004;0.001	B;B;B	0.23150	0.044;0.027;0.009	T	0.44003	-0.9356	10	0.62326	D	0.03	.	3.3104	0.07015	0.3351:0.4558:0.0:0.2091	.	258;258;258	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	D	258;258;258;258;258;259	ENSP00000380064:E258D;ENSP00000307031:E258D;ENSP00000369373:E258D;ENSP00000369366:E258D;ENSP00000380058:E258D;ENSP00000380062:E259D	ENSP00000307031:E258D	E	-	3	2	TRIM5	5643881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.486000	0.06513	-0.049000	0.13379	-0.140000	0.14226	GAG		0.408	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		61	248	1	0	5.19286e-32	1	6.12576e-32	61	248				
BAMBI	25805	broad.mit.edu	37	10	28970998	28970998	+	Missense_Mutation	SNP	C	C	T	rs369894183		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970998C>T	ENST00000375533.3	+	3	1007	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	151					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGTTCCGGGCAGCGGT	0.483																																						ENST00000375533.3																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(451-453)Cgg>Tgg		BMP and activin membrane-bound inhibitor		C	TRP/ARG	0,4406		0,0,2203	120.0	108.0	112.0		451	3.8	1.0	10		112	3,8597	3.0+/-9.4	0,3,4297	no	missense	BAMBI	NM_012342.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	151/261	28970998	3,13003	2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970998C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.451C>T	10.37:g.28970998C>T	ENSP00000364683:p.Arg151Trp						p.R151W	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			3	1007	+			151						Missense_Mutation	SNP	ENST00000375533.3	37	c.451C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494650	0.64186	0.0	3.49E-4	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75921	-0.3147	9	0.87932	D	0	-3.3249	13.3044	0.60345	0.3251:0.6749:0.0:0.0	.	151	Q13145	BAMBI_HUMAN	W	151;138	.	ENSP00000364683:R151W	R	+	1	2	BAMBI	29011004	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.298000	0.51818	2.778000	0.95560	0.655000	0.94253	CGG		0.483	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		65	289	0	0	0	1	0	65	289				
DNAH8	1769	broad.mit.edu	37	6	38790628	38790628	+	Missense_Mutation	SNP	G	G	A	rs201917454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38790628G>A	ENST00000359357.3	+	25	3141	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T|SNORA8_ENST00000391284.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	963					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTGAAGAAGCTATTCCTGC	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2887-2889)Gct>Act		dynein, axonemal, heavy chain 8		G	THR/ALA	0,4406		0,0,2203	36.0	38.0	37.0		3538	-6.8	0.0	6		37	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DNAH8	NM_001206927.1	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1180/4708	38790628	2,13004	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790628G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2887G>A	6.37:g.38790628G>A	ENSP00000352312:p.Ala963Thr					DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T	p.A963T							25	3141	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2887G>A		.	.	.	.	.	.	.	.	.	.	G	7.936	0.741757	0.15642	0.0	2.33E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.86;1.85;1.82	5.12	-6.83	0.01693	.	1.350950	0.04674	N	0.411146	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.10377	T	0.69	.	12.1701	0.54152	0.3127:0.1087:0.5787:0.0	.	963	Q96JB1	DYH8_HUMAN	T	1168;1168;963;963	ENSP00000333363:A1168T;ENSP00000352312:A963T;ENSP00000402294:A963T	ENSP00000333363:A1168T	A	+	1	0	DNAH8	38898606	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-1.057000	0.03486	-1.304000	0.02329	-0.471000	0.05019	GCT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		15	158	0	0	0	1	0	15	158				
PTPRB	5787	broad.mit.edu	37	12	70949649	70949649	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70949649C>T	ENST00000261266.5	-	17	4369		c.e17+1		PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGACACTTACGGTCTATCAT	0.522																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.e19+1		protein tyrosine phosphatase, receptor type, B							81.0	80.0	80.0					12																	70949649		2015	4179	6194	SO:0001630	splice_region_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949649C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4339+1G>A	12.37:g.70949649C>T						PTPRB_ENST00000261266.5_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site		NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		19	5038	-	Renal(347;0.236)							B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	ENST00000261266.5	37		CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829620	0.91036	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5187	0.95176	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRB	69235916	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.169000	0.77578	2.609000	0.88269	0.563000	0.77884	.		0.522	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		Intron	19	90	0	0	0	1	0	19	90				
SMARCAD1	56916	broad.mit.edu	37	4	95204434	95204434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95204434C>A	ENST00000354268.4	+	22	2962	c.2889C>A	c.(2887-2889)tgC>tgA	p.C963*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.C533*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	963	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAGATAGATGCCATAGAGTAG	0.338																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2887-2889)tgC>tgA		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							114.0	114.0	114.0					4																	95204434		2203	4300	6503	SO:0001587	stop_gained	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95204434C>A	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2889C>A	4.37:g.95204434C>A	ENSP00000346217:p.Cys963*					SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.C533*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*	p.C963*			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	22	2962	+			963			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	c.2889C>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	40	8.211293	0.98706	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.48	3.72	0.42706	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5904	8.1683	0.31239	0.0:0.7039:0.0:0.2961	.	.	.	.	X	965;965;963;533	.	ENSP00000346217:C963X	C	+	3	2	SMARCAD1	95423457	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.457000	0.21875	1.289000	0.44618	0.591000	0.81541	TGC		0.338	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		35	213	1	0	2.1956e-27	1	2.54205e-27	35	213				
CNTN3	5067	broad.mit.edu	37	3	74418379	74418379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418379G>A	ENST00000263665.6	-	7	934	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	303	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTTTTCCTCGTGAATTCTCA	0.398																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(907-909)Cga>Tga		contactin 3 (plasmacytoma associated)							74.0	70.0	71.0					3																	74418379		2203	4299	6502	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74418379G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.907C>T	3.37:g.74418379G>A	ENSP00000263665:p.Arg303*						p.R303*	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	7	934	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	303			Ig-like C2-type 3.		B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.907C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	36	5.931654	0.97116	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.01	1.64	0.23874	.	0.062472	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1043	0.59239	0.0:0.0:0.4209:0.5791	.	.	.	.	X	303	.	ENSP00000263665:R303X	R	-	1	2	CNTN3	74501069	0.988000	0.35896	0.957000	0.39632	0.991000	0.79684	2.049000	0.41288	0.429000	0.26202	0.591000	0.81541	CGA		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		23	162	0	0	0	1	0	23	162				
MRGPRE	116534	broad.mit.edu	37	11	3249838	3249838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249838G>A	ENST00000389832.5	-	2	498	c.192C>T	c.(190-192)gaC>gaT	p.D64D	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.D63D			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGGCCACGTCCAGGAGGT	0.647																																						ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gaC>gaT		MAS-related GPR, member E							82.0	100.0	94.0					11																	3249838		2124	4242	6366	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249838G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.192C>T	11.37:g.3249838G>A						AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.D63D	p.D64D			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	498	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	63					Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.192C>T																																																																																					0.647	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		104	490	0	0	0	1	0	104	490				
COL4A3	1285	broad.mit.edu	37	2	228158022	228158022	+	Missense_Mutation	SNP	C	C	T	rs373982111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228158022C>T	ENST00000396578.3	+	38	3488	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1109	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTGGAAGTCCTGGCCTCCCA	0.507																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3325-3327)cCt>cTt		collagen, type IV, alpha 3 (Goodpasture antigen)							45.0	51.0	49.0					2																	228158022		1845	4081	5926	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228158022C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3326C>T	2.37:g.228158022C>T	ENSP00000379823:p.Pro1109Leu					AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.P1109L	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	38	3488	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1109			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3326C>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159271	0.38119	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699;ENST00000304990	D;D	0.96885	-4.09;-4.16	5.73	4.81	0.61882	.	0.356519	0.24180	N	0.040801	D	0.96895	0.8986	M	0.80183	2.485	0.50039	D	0.999844	D;D;P;P	0.57257	0.979;0.979;0.944;0.954	P;P;P;P	0.52109	0.675;0.675;0.646;0.69	D	0.96731	0.9539	10	0.72032	D	0.01	.	13.3166	0.60411	0.0:0.841:0.159:0.0	.	1109;1109;1109;1109	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	1109;1109;1109;1109;1109;146	ENSP00000379823:P1109L;ENSP00000302781:P146L	ENSP00000302781:P146L	P	+	2	0	COL4A3	227866266	0.751000	0.28327	0.997000	0.53966	0.967000	0.64934	1.995000	0.40767	2.868000	0.98415	0.557000	0.71058	CCT		0.507	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		55	178	0	0	0	1	0	55	178				
ACTL7A	10881	broad.mit.edu	37	9	111625138	111625138	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111625138A>C	ENST00000333999.3	+	1	536	c.536A>C	c.(535-537)aAc>aCc	p.N179T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	179						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACACACCAACAGAGAGAAA	0.532																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(535-537)aAc>aCc		actin-like 7A							111.0	109.0	110.0					9																	111625138		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625138A>C	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.536A>C	9.37:g.111625138A>C	ENSP00000334300:p.Asn179Thr						p.N179T	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	536	+			179					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.536A>C	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301479	0.81136	.	.	ENSG00000187003	ENST00000333999	D	0.97378	-4.36	5.98	5.98	0.97165	.	0.000000	0.50627	D	0.000102	D	0.98520	0.9506	M	0.87038	2.855	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.99548	1.0965	10	0.87932	D	0	.	14.4302	0.67243	1.0:0.0:0.0:0.0	.	179	Q9Y615	ACL7A_HUMAN	T	179	ENSP00000334300:N179T	ENSP00000334300:N179T	N	+	2	0	ACTL7A	110664959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.288000	0.76882	0.528000	0.53228	AAC		0.532	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		74	343	0	0	0	1	0	74	343				
P2RY11	5032	broad.mit.edu	37	19	10225276	10225276	+	Silent	SNP	C	C	T	rs561006758|rs143410132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225276C>T	ENST00000321826.4	+	2	1171	c.987C>T	c.(985-987)ggC>ggT	p.G329G	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.G749G|PPAN_ENST00000556468.1_Silent_p.G749G	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	329					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCAGCCTGGGCTGCTGCTGCC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17306	0.0		0.0	False		,,,				2504	0.0					ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(2245-2247)ggC>ggT		peter pan homolog (Drosophila)		C	,,	1,4405		0,1,2202	40.0	47.0	45.0		2247,,987	-0.1	0.5	19	dbSNP_134	45	0,8596		0,0,4298	no	coding-synonymous,utr-3,coding-synonymous	P2RY11,PPAN-P2RY11	NM_001040664.2,NM_001198690.1,NM_002566.4	,,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,,	749/795,,329/375	10225276	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	56342							g.chr19:10225276C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.987C>T	19.37:g.10225276C>T						PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Silent_p.G329G|PPAN-P2RY11_ENST00000393796.4_Silent_p.G749G	p.G749G					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2274	+								B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.2247C>T	CCDS12226.1																																																																																				0.672	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		72	366	0	0	0	1	0	72	366				
ARHGAP11A	9824	broad.mit.edu	37	15	32929721	32929721	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32929721T>G	ENST00000361627.3	+	12	3469	c.2747T>G	c.(2746-2748)aTt>aGt	p.I916S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I727S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	916					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(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATTGGTGCAATTTCAAAGTCA	0.368																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2746-2748)aTt>aGt		Rho GTPase activating protein 11A							98.0	99.0	98.0					15																	32929721		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929721T>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2747T>G	15.37:g.32929721T>G	ENSP00000355090:p.Ile916Ser					ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I727S	p.I916S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	3469	+		all_lung(180;1.3e-11)	916					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2747T>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.295039	0.05532	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10860	2.83	4.55	0.908	0.19326	.	0.936787	0.08882	N	0.879885	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.23442	0.085	B	0.22386	0.039	T	0.32295	-0.9912	10	0.66056	D	0.02	.	6.3575	0.21410	0.0:0.3165:0.0:0.6834	.	916	Q6P4F7	RHGBA_HUMAN	S	916;727	ENSP00000355090:I916S	ENSP00000355090:I916S	I	+	2	0	ARHGAP11A	30717013	0.275000	0.24201	0.015000	0.15790	0.020000	0.10135	0.298000	0.19120	0.283000	0.22279	0.482000	0.46254	ATT		0.368	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		74	387	0	0	0	1	0	74	387				
KCNK13	56659	broad.mit.edu	37	14	90650476	90650476	+	Missense_Mutation	SNP	C	C	T	rs541534783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650476C>T	ENST00000282146.4	+	2	797	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	119					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAACTCCGGCGACAGTAGGA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21508	0.0		0.0	False		,,,				2504	0.0					ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(355-357)gCg>gTg		potassium channel, subfamily K, member 13							94.0	101.0	99.0					14																	90650476		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650476C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.356C>T	14.37:g.90650476C>T	ENSP00000282146:p.Ala119Val						p.A119V	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	797	+		all_cancers(154;0.186)	119					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.356C>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105386	0.01828	.	.	ENSG00000152315	ENST00000282146	T	0.21031	2.03	5.31	4.41	0.53225	Ion transport 2 (1);	0.178360	0.27284	N	0.020073	T	0.12518	0.0304	N	0.12443	0.215	0.58432	D	0.999999	B	0.15473	0.013	B	0.15484	0.013	T	0.11155	-1.0599	10	0.23891	T	0.37	.	14.3161	0.66452	0.0:0.9266:0.0:0.0734	.	119	Q9HB14	KCNKD_HUMAN	V	119	ENSP00000282146:A119V	ENSP00000282146:A119V	A	+	2	0	KCNK13	89720229	0.882000	0.30256	0.105000	0.21289	0.026000	0.11368	1.759000	0.38420	2.476000	0.83614	0.655000	0.94253	GCG		0.483	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		103	415	0	0	0	1	0	103	415				
ZNF774	342132	broad.mit.edu	37	15	90904469	90904469	+	Missense_Mutation	SNP	G	G	A	rs368856575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90904469G>A	ENST00000354377.3	+	4	1592	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGAGCTTCCGTCAGAAAGCG	0.433																																						ENST00000354377.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14						c.(1405-1407)cGt>cAt		zinc finger protein 774		G	HIS/ARG	0,4398		0,0,2199	90.0	91.0	91.0		1406	-3.2	0.1	15		91	1,8595	1.2+/-3.3	0,1,4297	no	missense	ZNF774	NM_001004309.2	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	469/484	90904469	1,12993	2199	4298	6497	SO:0001583	missense	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90904469G>A	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1406G>A	15.37:g.90904469G>A	ENSP00000346348:p.Arg469His					ZNF774_ENST00000379090.5_Intron	p.R469H	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	1592	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		469					A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	c.1406G>A	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019029	0.54576	0.0	1.16E-4	ENSG00000196391	ENST00000354377	T	0.18016	2.24	5.86	-3.2	0.05156	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33438	U	0.004915	T	0.24122	0.0584	M	0.62016	1.91	0.39717	D	0.97141	D	0.76494	0.999	D	0.65773	0.938	T	0.25779	-1.0122	10	0.54805	T	0.06	.	1.1591	0.01802	0.4239:0.1154:0.2257:0.2349	.	469	Q6NX45	ZN774_HUMAN	H	469	ENSP00000346348:R469H	ENSP00000346348:R469H	R	+	2	0	ZNF774	88705473	0.000000	0.05858	0.122000	0.21767	0.870000	0.49936	0.565000	0.23578	-0.543000	0.06240	-0.244000	0.11960	CGT		0.433	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		113	440	0	0	0	1	0	113	440				
INSC	387755	broad.mit.edu	37	11	15134052	15134052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134052G>A	ENST00000379554.3	+	1	83	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	INSC_ENST00000424273.1_5'Flank|INSC_ENST00000379556.3_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	13					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCGGCCAGCGAAGGTCCAGG	0.602																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(37-39)Gaa>Aaa		inscuteable homolog (Drosophila)							51.0	67.0	62.0					11																	15134052		2000	4145	6145	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15134052G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.37G>A	11.37:g.15134052G>A	ENSP00000368872:p.Glu13Lys						p.E13K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			1	83	+			13					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.37G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	g	0.155	-1.086815	0.01873	.	.	ENSG00000188487	ENST00000379554	T	0.35421	1.31	3.54	-3.24	0.05094	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	9	0.30078	T	0.28	0.161	5.1726	0.15118	0.4866:0.1524:0.361:0.0	.	13	Q1MX18	INSC_HUMAN	K	13	ENSP00000368872:E13K	ENSP00000368872:E13K	E	+	1	0	INSC	15090628	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.209000	0.09358	-0.708000	0.05015	-1.975000	0.00460	GAA		0.602	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		35	209	0	0	0	1	0	35	209				
AARS2	57505	broad.mit.edu	37	6	44274124	44274124	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44274124G>T	ENST00000244571.4	-	9	1195	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCAGGTTGGCGATCTGAAC	0.587																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(1192-1194)gCc>gAc		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						130.0	121.0	124.0					6																	44274124		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44274124G>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1193C>A	6.37:g.44274124G>T	ENSP00000244571:p.Ala398Asp					TMEM151B_ENST00000438774.2_Intron	p.A398D	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1195	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		398						Missense_Mutation	SNP	ENST00000244571.4	37	c.1193C>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382178	0.24944	.	.	ENSG00000124608	ENST00000244571	T	0.72167	-0.63	4.27	1.43	0.22495	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.445087	0.24960	N	0.034237	T	0.41743	0.1172	L	0.45581	1.43	0.23120	N	0.998261	P	0.43542	0.81	P	0.46629	0.522	T	0.32955	-0.9887	10	0.14656	T	0.56	-3.1415	3.9844	0.09509	0.4692:0.0:0.3673:0.1635	.	398	Q5JTZ9	SYAM_HUMAN	D	398	ENSP00000244571:A398D	ENSP00000244571:A398D	A	-	2	0	AARS2	44382102	0.098000	0.21812	0.833000	0.33012	0.012000	0.07955	1.033000	0.30191	0.462000	0.27095	0.561000	0.74099	GCC		0.587	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		168	748	1	0	5.25129e-67	1	6.64947e-67	168	748				
AKT1	207	broad.mit.edu	37	14	105258975	105258975	+	Silent	SNP	G	G	A	rs371534192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105258975G>A	ENST00000554581.1	-	1	1486	c.6C>T	c.(4-6)agC>agT	p.S2S	AKT1_ENST00000402615.2_Silent_p.S2S|AKT1_ENST00000349310.3_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S|AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	2					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGCCACGTCGCTCATGGTGC	0.672		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(4-6)agC>agT		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	G	,,	1,4405	2.1+/-5.4	0,1,2202	107.0	92.0	97.0		6,6,6	0.6	1.0	14		97	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	2/481,2/481,2/481	105258975	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105258975G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.6C>T	14.37:g.105258975G>A						AKT1_ENST00000349310.3_Silent_p.S2S|AKT1_ENST00000402615.2_Silent_p.S2S|AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S	p.S2S			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	1	1486	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	2					B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.6C>T	CCDS9994.1																																																																																				0.672	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		50	583	0	0	0	1	0	50	583				
CDC37	11140	broad.mit.edu	37	19	10505909	10505909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10505909C>A	ENST00000222005.2	-	4	651	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	200					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCACCTCCTCCACCTCTAGG	0.567																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(598-600)Gag>Tag		cell division cycle 37							208.0	180.0	189.0					19																	10505909		2203	4300	6503	SO:0001587	stop_gained	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505909C>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.598G>T	19.37:g.10505909C>A	ENSP00000222005:p.Glu200*						p.E200*	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	4	651	-			200					Q53YA2	Nonsense_Mutation	SNP	ENST00000222005.2	37	c.598G>T	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	37	6.103354	0.97286	.	.	ENSG00000105401	ENST00000222005	.	.	.	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.992	0.64372	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000222005:E200X	E	-	1	0	CDC37	10366909	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.011000	0.76359	1.948000	0.56530	0.462000	0.41574	GAG		0.567	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		90	975	1	0	2.96794e-49	1	3.6705e-49	90	975				
PEX13	5194	broad.mit.edu	37	2	61258998	61258998	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61258998T>A	ENST00000295030.5	+	2	575	c.537T>A	c.(535-537)ttT>ttA	p.F179L	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	179	Interaction with PEX19.|Targeting to peroxisomes.				cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			CAAAAGTGTTTTCAGCTTTTG	0.413																																						ENST00000295030.4																			0				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(535-537)ttT>ttA		peroxisomal biogenesis factor 13							123.0	121.0	122.0					2																	61258998		2203	4300	6503	SO:0001583	missense	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61258998T>A	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.537T>A	2.37:g.61258998T>A	ENSP00000295030:p.Phe179Leu					PEX13_ENST00000472678.1_3'UTR	p.F179L	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		2	575	+			179			Interaction with PEX19.|Targeting to peroxisomes.		B2RCS1	Missense_Mutation	SNP	ENST00000295030.5	37	c.537T>A	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425331	0.25639	.	.	ENSG00000162928	ENST00000295030	T	0.70749	-0.51	5.85	3.48	0.39840	Peroxin 13, N-terminal (1);	0.050181	0.85682	D	0.000000	T	0.44008	0.1273	N	0.05383	-0.06	0.80722	D	1	B	0.18461	0.028	B	0.24701	0.055	T	0.32771	-0.9894	10	0.02654	T	1	-20.9736	8.4584	0.32912	0.0:0.21:0.0:0.79	.	179	Q92968	PEX13_HUMAN	L	179	ENSP00000295030:F179L	ENSP00000295030:F179L	F	+	3	2	PEX13	61112502	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.914000	0.28624	0.472000	0.27344	0.533000	0.62120	TTT		0.413	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		15	698	0	0	0	1	0	15	698				
SLC22A15	55356	broad.mit.edu	37	1	116562216	116562216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116562216C>T	ENST00000369503.4	+	3	444	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A105V|RP11-159M11.2_ENST00000453128.1_RNA	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	105					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTTTAATTGCCAACAGATCC	0.378																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(313-315)gCc>gTc		solute carrier family 22, member 15							145.0	122.0	129.0					1																	116562216		1828	4089	5917	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116562216C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.314C>T	1.37:g.116562216C>T	ENSP00000358515:p.Ala105Val					SLC22A15_ENST00000369502.1_Missense_Mutation_p.A105V	p.A105V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	3	444	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	105					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.314C>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576599	0.45902	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76709	-1.04;-0.46	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.229842	0.46442	D	0.000283	T	0.48995	0.1531	N	0.08118	0	0.31911	N	0.61465	B;B	0.30741	0.293;0.153	B;B	0.34652	0.187;0.086	T	0.58679	-0.7594	10	0.87932	D	0	.	12.5588	0.56269	0.0:0.7822:0.2178:0.0	.	105;105	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	V	105	ENSP00000358515:A105V;ENSP00000358514:A105V	ENSP00000358514:A105V	A	+	2	0	SLC22A15	116363739	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.662000	0.54510	2.731000	0.93534	0.655000	0.94253	GCC		0.378	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		8	85	0	0	0	1	0	8	85				
FOXA3	3171	broad.mit.edu	37	19	46376245	46376245	+	Missense_Mutation	SNP	G	G	A	rs377404065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46376245G>A	ENST00000302177.2	+	2	1179	c.982G>A	c.(982-984)Ggg>Agg	p.G328R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	328					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGGGGCTACGGGGCTGAAGG	0.562																																						ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(982-984)Ggg>Agg		forkhead box A3		G	ARG/GLY	0,4404		0,0,2202	36.0	32.0	34.0		982	4.5	0.7	19		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXA3	NM_004497.2	125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	328/351	46376245	1,13003	2202	4300	6502	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46376245G>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.982G>A	19.37:g.46376245G>A	ENSP00000304004:p.Gly328Arg						p.G328R	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	1179	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	328					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.982G>A	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922531	0.52653	0.0	1.16E-4	ENSG00000170608	ENST00000302177	D	0.91894	-2.93	4.53	4.53	0.55603	.	0.524241	0.19272	N	0.118370	D	0.94450	0.8214	L	0.52573	1.65	0.44462	D	0.99739	D	0.89917	1.0	D	0.80764	0.994	D	0.94693	0.7876	10	0.87932	D	0	.	15.1292	0.72507	0.0:0.0:1.0:0.0	.	328	P55318	FOXA3_HUMAN	R	328	ENSP00000304004:G328R	ENSP00000304004:G328R	G	+	1	0	FOXA3	51068085	1.000000	0.71417	0.672000	0.29872	0.456000	0.32438	3.948000	0.56660	2.502000	0.84385	0.579000	0.79373	GGG		0.562	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			23	109	0	0	0	1	0	23	109				
CBWD6	644019	broad.mit.edu	37	9	69238239	69238239	+	Missense_Mutation	SNP	G	G	A	rs200937603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:69238239G>A	ENST00000377457.5	-	8	758	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M|CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	218							ATP binding (GO:0005524)			lung(4)	4						CCTAAGTGTCGTTCTTAATTT	0.338																																						ENST00000377457.5																			0				lung(4)	4						c.(652-654)aCg>aTg		COBW domain containing 6		G	MET/THR	1,2703		0,1,1351	120.0	163.0	147.0		653	0.3	0.0	9		147	8,4634		0,8,2313	yes	missense	CBWD6	NM_001085457.1	81	0,9,3664	AA,AG,GG		0.1723,0.037,0.1225	benign	218/396	69238239	9,7337	1352	2321	3673	SO:0001583	missense	644019						ATP binding	g.chr9:69238239G>A		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.653C>T	9.37:g.69238239G>A	ENSP00000366677:p.Thr218Met					CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M|CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M	p.T218M	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			8	758	-			218						Missense_Mutation	SNP	ENST00000377457.5	37	c.653C>T	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189171	0.09547	3.7E-4	0.001723	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.42900	0.96;0.96;0.96	2.35	0.321	0.15883	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.752267	0.13009	N	0.421042	T	0.32466	0.0830	L	0.47190	1.495	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.23619	-1.0183	10	0.46703	T	0.11	-14.1278	7.2111	0.25935	0.2597:0.0:0.7403:0.0	.	218	Q4V339	CBWD6_HUMAN	M	218;182;198;218	ENSP00000366677:T218M;ENSP00000366668:T182M;ENSP00000371836:T198M	ENSP00000366664:T218M	T	-	2	0	CBWD6	68528059	0.086000	0.21541	0.040000	0.18447	0.263000	0.26337	0.873000	0.28052	-0.123000	0.11745	-1.109000	0.02080	ACG		0.338	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		14	469	0	0	0	1	0	14	469				
NPC1L1	29881	broad.mit.edu	37	7	44578520	44578520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44578520C>A	ENST00000289547.4	-	2	1531	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	NPC1L1_ENST00000423141.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	492					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCTGGAAATACTGCAGGAGGC	0.562																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1474-1476)caG>caT		NPC1-like 1	Ezetimibe(DB00973)						143.0	123.0	130.0					7																	44578520		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578520C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1476G>T	7.37:g.44578520C>A	ENSP00000289547:p.Gln492His					NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H|NPC1L1_ENST00000423141.1_Missense_Mutation_p.Q492H	p.Q492H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	1531	-			492					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1476G>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	16.63	3.177743	0.57692	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.07	3.26	0.37387	.	0.133289	0.51477	D	0.000084	D	0.92264	0.7546	M	0.84585	2.705	0.41428	D	0.987841	B;D;B;B	0.69078	0.035;0.997;0.008;0.009	B;P;B;B	0.58873	0.047;0.847;0.031;0.007	D	0.90153	0.4222	10	0.46703	T	0.11	-12.2679	7.0715	0.25181	0.0:0.7223:0.0:0.2777	.	492;492;492;492	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	H	492	ENSP00000289547:Q492H;ENSP00000370552:Q492H;ENSP00000438033:Q492H;ENSP00000404670:Q492H	ENSP00000289547:Q492H	Q	-	3	2	NPC1L1	44545045	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	2.869000	0.48444	0.537000	0.28751	0.407000	0.27541	CAG		0.562	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		76	298	1	0	1.38806e-43	1	1.69524e-43	76	298				
HERC2	8924	broad.mit.edu	37	15	28510844	28510844	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510844A>G	ENST00000261609.7	-	14	1898	c.1790T>C	c.(1789-1791)gTa>gCa	p.V597A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCCCGGCTACCAGCATCGG	0.572																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1789-1791)gTa>gCa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							171.0	118.0	136.0					15																	28510844		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28510844A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1790T>C	15.37:g.28510844A>G	ENSP00000261609:p.Val597Ala						p.V597A	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	14	1898	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	597						Missense_Mutation	SNP	ENST00000261609.7	37	c.1790T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083169	0.94050	.	.	ENSG00000128731	ENST00000261609	D	0.88277	-2.36	5.44	5.44	0.79542	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.92122	3.275	0.80722	D	1	D	0.62365	0.991	D	0.80764	0.994	D	0.96716	0.9529	10	0.87932	D	0	.	15.8418	0.78852	1.0:0.0:0.0:0.0	.	597	O95714	HERC2_HUMAN	A	597	ENSP00000261609:V597A	ENSP00000261609:V597A	V	-	2	0	HERC2	26184439	1.000000	0.71417	0.990000	0.47175	0.950000	0.60333	8.806000	0.91930	2.202000	0.70862	0.491000	0.48974	GTA		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		72	344	0	0	0	1	0	72	344				
PCNXL4	64430	broad.mit.edu	37	14	60591135	60591135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591135C>A	ENST00000406854.1	+	9	2800	c.2246C>A	c.(2245-2247)tCt>tAt	p.S749Y	PCNXL4_ENST00000317623.4_Missense_Mutation_p.S515Y|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S749Y|PCNXL4_ENST00000406949.1_Missense_Mutation_p.S515Y			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	749						integral component of membrane (GO:0016021)											ATAATTGATTCTCATGAAAAC	0.368																																						ENST00000406854.1																			0											c.(2245-2247)tCt>tAt		pecanex-like 4 (Drosophila)							70.0	70.0	70.0					14																	60591135		2203	4300	6503	SO:0001583	missense	64430							g.chr14:60591135C>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2246C>A	14.37:g.60591135C>A	ENSP00000384801:p.Ser749Tyr					PCNXL4_ENST00000404681.2_Missense_Mutation_p.S749Y|PCNXL4_ENST00000317623.4_Missense_Mutation_p.S515Y|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.S515Y	p.S749Y							9	2800	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2246C>A		.	.	.	.	.	.	.	.	.	.	C	19.00	3.741904	0.69418	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.27402	1.68;1.7;1.67;1.7	5.69	3.79	0.43588	.	0.101468	0.64402	D	0.000001	T	0.54902	0.1887	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.63488	0.91;0.915	T	0.62263	-0.6891	10	0.87932	D	0	.	16.0285	0.80560	0.0:0.7458:0.2542:0.0	.	749;515	Q63HM2;B5MC47	CN135_HUMAN;.	Y	515;749;515;749	ENSP00000317396:S515Y;ENSP00000384801:S749Y;ENSP00000385201:S515Y;ENSP00000385713:S749Y	ENSP00000317396:S515Y	S	+	2	0	C14orf135	59660888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	0.689000	0.31550	0.650000	0.86243	TCT		0.368	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		43	166	1	0	3.61848e-18	1	4.01023e-18	43	166				
PSMD1	5707	broad.mit.edu	37	2	231927223	231927223	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927223G>A	ENST00000308696.6	+	4	300	c.138G>A	c.(136-138)gaG>gaA	p.E46E	PSMD1_ENST00000409643.1_Silent_p.E46E|PSMD1_ENST00000373635.4_Silent_p.E46E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CTTTCAGAGAGGTTTTATACG	0.393																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(136-138)gaG>gaA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						75.0	80.0	78.0					2																	231927223		2203	4299	6502	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231927223G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.138G>A	2.37:g.231927223G>A						PSMD1_ENST00000409643.1_Silent_p.E46E|PSMD1_ENST00000373635.4_Silent_p.E46E	p.E46E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	4	300	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	46					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.138G>A	CCDS2482.1																																																																																				0.393	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			75	422	0	0	0	1	0	75	422				
SPTB	6710	broad.mit.edu	37	14	65260266	65260266	+	Silent	SNP	C	C	T	rs142550439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65260266C>T	ENST00000389721.5	-	13	2147	c.2115G>A	c.(2113-2115)gcG>gcA	p.A705A	SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A|SPTB_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000389722.3_Silent_p.A705A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	705					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTTGCGCGCAACCATGC	0.592													c|||	4	0.000798722	0.003	0.0	5008	,	,		18706	0.0		0.0	False		,,,				2504	0.0					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2113-2115)gcG>gcA		spectrin, beta, erythrocytic		T	,	6,4400	11.4+/-27.6	0,6,2197	64.0	55.0	58.0		2115,2115	-9.4	0.0	14	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	705/2138,705/2329	65260266	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260266C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2115G>A	14.37:g.65260266C>T						SPTB_ENST00000389721.5_Silent_p.A705A|SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A	p.A705A	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2168	-		all_lung(585;4.15e-09)	705					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2115G>A	CCDS32100.1																																																																																				0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			49	189	0	0	0	1	0	49	189				
UGT3A2	167127	broad.mit.edu	37	5	36049058	36049058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36049058C>T	ENST00000282507.3	-	4	877	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	259					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCAGAGGTCGAGCAAAATC	0.423																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(775-777)cGa>cAa		UDP glycosyltransferase 3 family, polypeptide A2							137.0	132.0	134.0					5																	36049058		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049058C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.776G>A	5.37:g.36049058C>T	ENSP00000282507:p.Arg259Gln					UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	p.R259Q	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	877	-	all_lung(31;0.000179)		259					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.776G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611891	0.46631	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61510	0.1;0.1	3.45	2.58	0.30949	.	0.305261	0.27495	N	0.019106	T	0.50463	0.1617	M	0.75150	2.29	0.80722	D	1	B;P	0.38711	0.327;0.643	B;B	0.33196	0.148;0.159	T	0.53627	-0.8412	10	0.54805	T	0.06	.	7.1791	0.25761	0.0:0.7815:0.0:0.2185	.	225;259	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Q	259;225	ENSP00000282507:R259Q;ENSP00000427404:R225Q	ENSP00000282507:R259Q	R	-	2	0	UGT3A2	36084815	0.005000	0.15991	0.830000	0.32933	0.940000	0.58332	1.044000	0.30329	1.034000	0.39945	0.655000	0.94253	CGA		0.423	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		89	394	0	0	0	1	0	89	394				
ATG14	22863	broad.mit.edu	37	14	55844555	55844555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55844555C>T	ENST00000247178.5	-	9	1189	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	385					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GTGTTCAGAGCTTGGACTGAC	0.358																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1153-1155)aGc>aAc		autophagy related 14							97.0	88.0	91.0					14																	55844555		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55844555C>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1154G>A	14.37:g.55844555C>T	ENSP00000247178:p.Ser385Asn						p.S385N	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			9	1189	-			385					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.1154G>A	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	c	2.918	-0.223818	0.06061	.	.	ENSG00000126775	ENST00000247178	T	0.31510	1.49	5.09	-0.951	0.10369	.	0.635584	0.18055	N	0.153126	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	10	0.18710	T	0.47	-6.6774	9.6758	0.40039	0.0:0.3217:0.0:0.6783	.	385	Q6ZNE5	BAKOR_HUMAN	N	385	ENSP00000247178:S385N	ENSP00000247178:S385N	S	-	2	0	ATG14	54914308	0.948000	0.32251	0.020000	0.16555	0.523000	0.34469	0.804000	0.27098	-0.303000	0.08856	-0.469000	0.05056	AGC		0.358	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		27	149	0	0	0	1	0	27	149				
ZNF496	84838	broad.mit.edu	37	1	247463872	247463872	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463872G>A	ENST00000294753.4	-	9	2177	c.1713C>T	c.(1711-1713)caC>caT	p.H571H	ZNF496_ENST00000366498.2_Silent_p.H607H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	571					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)			GCAGGCGCTCGTGGCGGAGGA	0.647																																						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.(1711-1713)caC>caT		zinc finger protein 496							54.0	56.0	55.0					1																	247463872		2203	4300	6503	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247463872G>A	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.1713C>T	1.37:g.247463872G>A						ZNF496_ENST00000366498.2_Silent_p.H607H|ZNF496_ENST00000462139.1_5'UTR	p.H571H	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2177	-	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)		571					Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.1713C>T	CCDS1631.1																																																																																				0.647	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		36	320	0	0	0	1	0	36	320				
KCNH6	81033	broad.mit.edu	37	17	61613207	61613207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613207C>T	ENST00000583023.1	+	6	1290	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000314672.5_Missense_Mutation_p.R427W|KCNH6_ENST00000580652.1_Missense_Mutation_p.R427W|KCNH6_ENST00000456941.2_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	427					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R427W(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CAATGTGGAGCGGCCCTACCT	0.632																																						ENST00000583023.1																			1	Substitution - Missense(1)	p.R427W(1)	endometrium(1)	breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1279-1281)Cgg>Tgg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						80.0	73.0	76.0					17																	61613207		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613207C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1279C>T	17.37:g.61613207C>T	ENSP00000463533:p.Arg427Trp					KCNH6_ENST00000314672.5_Missense_Mutation_p.R427W|KCNH6_ENST00000456941.2_Intron|KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000580652.1_Missense_Mutation_p.R427W	p.R427W	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1290	+			427					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1279C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855162	0.32791	.	.	ENSG00000173826	ENST00000314672	D	0.98876	-5.2	4.36	3.36	0.38483	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.79784	0.993;0.964;0.964;0.827	D	0.99457	1.0942	10	0.66056	D	0.02	.	13.4504	0.61167	0.158:0.842:0.0:0.0	.	304;427;427;427	B4DPJ3;B4DKC0;Q9H252;Q9H252-3	.;.;KCNH6_HUMAN;.	W	427	ENSP00000318212:R427W	ENSP00000318212:R427W	R	+	1	2	KCNH6	58966939	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.106000	0.50322	0.996000	0.38943	0.313000	0.20887	CGG		0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		36	391	0	0	0	1	0	36	391				
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24419480C>T	ENST00000374434.3	-	10	1209	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000330966.7_Silent_p.S350S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.647																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1048-1050)tcG>tcA		myomesin 3							29.0	34.0	32.0					1																	24419480		1985	4139	6124	SO:0001819	synonymous_variant	127294							g.chr1:24419480C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1047G>A	1.37:g.24419480C>T						MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000374434.3_Silent_p.S349S|MYOM3_ENST00000475306.1_5'UTR	p.S350S			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1212	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	349			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.1050G>A	CCDS41281.1																																																																																				0.647	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		15	103	0	0	0	1	0	15	103				
PIGO	84720	broad.mit.edu	37	9	35093540	35093540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35093540C>T	ENST00000378617.3	-	5	1211	c.817G>A	c.(817-819)Gta>Ata	p.V273I	PIGO_ENST00000298004.5_Missense_Mutation_p.V273I|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I|PIGO_ENST00000341666.3_Missense_Mutation_p.V273I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	273					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCAGCCACTACCAGCAGTGTG	0.498																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(817-819)Gta>Ata		phosphatidylinositol glycan anchor biosynthesis, class O							49.0	48.0	48.0					9																	35093540		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35093540C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.817G>A	9.37:g.35093540C>T	ENSP00000367880:p.Val273Ile					PIGO_ENST00000341666.3_Missense_Mutation_p.V273I|PIGO_ENST00000298004.5_Missense_Mutation_p.V273I|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I	p.V273I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	1211	-			273					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.817G>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991476	0.74703	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.285709	0.34386	N	0.004009	T	0.22513	0.0543	N	0.17901	0.54	0.45318	D	0.998311	P;B	0.46512	0.879;0.091	P;B	0.45639	0.488;0.114	T	0.01036	-1.1473	10	0.25106	T	0.35	-22.0031	9.7401	0.40413	0.1326:0.6196:0.2478:0.0	.	273;273	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	273	ENSP00000298004:V273I;ENSP00000367880:V273I;ENSP00000339382:V273I;ENSP00000354678:V273I	ENSP00000298004:V273I	V	-	1	0	PIGO	35083540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.673000	0.46858	2.894000	0.99253	0.655000	0.94253	GTA		0.498	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		16	130	0	0	0	1	0	16	130				
SEMA6D	80031	broad.mit.edu	37	15	48056061	48056061	+	Silent	SNP	C	C	T	rs374731818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48056061C>T	ENST00000316364.5	+	10	1201	c.762C>T	c.(760-762)cgC>cgT	p.R254R	SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTATTCCCGCGTGGCCCGCA	0.493																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(760-762)cgC>cgT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D		C	,,,,,,	1,4395	2.1+/-5.4	0,1,2197	136.0	133.0	134.0		762,762,762,762,762,762,762	-3.7	1.0	15		134	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEMA6D	NM_001198999.1,NM_020858.1,NM_024966.2,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	254/1012,254/1012,254/477,254/999,254/1018,254/1074,254/598	48056061	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056061C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.762C>T	15.37:g.48056061C>T						SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R	p.R254R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1201	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	254			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.762C>T	CCDS32225.1																																																																																				0.493	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		162	672	0	0	0	1	0	162	672				
ADD2	119	broad.mit.edu	37	2	70901918	70901918	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70901918T>C	ENST00000264436.4	-	14	2077	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	ADD2_ENST00000407644.2_Missense_Mutation_p.T545A|ADD2_ENST00000355733.3_Missense_Mutation_p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	545					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCGTCTTTGGTATCCTCGTCT	0.547																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1633-1635)Acc>Gcc		adducin 2 (beta)							220.0	200.0	206.0					2																	70901918		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70901918T>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1633A>G	2.37:g.70901918T>C	ENSP00000264436:p.Thr545Ala					ADD2_ENST00000355733.3_Missense_Mutation_p.T545A|ADD2_ENST00000407644.2_Missense_Mutation_p.T545A	p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			14	2077	-			545					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1633A>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	7.622	0.677089	0.14841	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596	T;T;T;T	0.21543	3.47;3.47;3.32;2.0	5.73	4.57	0.56435	.	0.306452	0.35585	N	0.003104	T	0.14874	0.0359	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.07986	-1.0744	10	0.18710	T	0.47	-21.5161	9.9387	0.41567	0.0:0.0805:0.0:0.9195	.	545;545;545;545	P35612-4;Q05DK5;P35612;P35612-3	.;.;ADDB_HUMAN;.	A	545;545;297;545;239;545;239	ENSP00000264436:T545A;ENSP00000384677:T545A;ENSP00000347972:T545A;ENSP00000430243:T239A	ENSP00000264436:T545A	T	-	1	0	ADD2	70755426	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	0.699000	0.25586	1.000000	0.39049	0.533000	0.62120	ACC		0.547	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		150	421	0	0	0	1	0	150	421				
SOX5	6660	broad.mit.edu	37	12	23893858	23893858	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23893858G>T	ENST00000451604.2	-	5	785	c.684C>A	c.(682-684)gcC>gcA	p.A228A	SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000546136.1_Silent_p.A215A|SOX5_ENST00000541847.1_Silent_p.A218A|SOX5_ENST00000545921.1_Silent_p.A218A|SOX5_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000381381.2_Silent_p.A215A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	228					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAATCTGAGAGGCAGCTAGTT	0.493																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(643-645)gcC>gcA		SRY (sex determining region Y)-box 5							114.0	103.0	107.0					12																	23893858		2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23893858G>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.684C>A	12.37:g.23893858G>T						SOX5_ENST00000541847.1_Silent_p.A218A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000451604.2_Silent_p.A228A|SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000381381.2_Silent_p.A215A|SOX5_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000545921.1_Silent_p.A218A	p.A215A			P35711	SOX5_HUMAN			4	647	-			228					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.645C>A	CCDS8699.1																																																																																				0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		76	314	1	0	3.25985e-27	1	3.7718e-27	76	314				
MYEOV2	150678	broad.mit.edu	37	2	241073406	241073406	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073406C>T	ENST00000607357.1	-	2	98	c.80G>A	c.(79-81)gGg>gAg	p.G27E	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.G58E	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	27										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CATCAAGAGCCCGGTGCTGCC	0.498																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(172-174)gGg>gAg		myeloma overexpressed 2							98.0	105.0	103.0					2																	241073406		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241073406C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.80G>A	2.37:g.241073406C>T	ENSP00000475979:p.Gly27Glu					MYEOV2_ENST00000607357.1_Missense_Mutation_p.G27E|MYEOV2_ENST00000489698.1_5'UTR	p.G58E	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	2	172	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	27					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.173G>A		.	.	.	.	.	.	.	.	.	.	C	23.8	4.457887	0.84317	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.78842	0.4347	.	.	.	0.80722	D	1	P;D	0.89917	0.476;1.0	B;D	0.79108	0.219;0.992	T	0.82311	-0.0520	8	0.87932	D	0	-2.6468	15.1841	0.72986	0.0:1.0:0.0:0.0	.	27;58	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	E	58;48	.	ENSP00000304147:G58E	G	-	2	0	MYEOV2	240722079	0.998000	0.40836	0.998000	0.56505	0.975000	0.68041	4.459000	0.60102	2.240000	0.73641	0.650000	0.86243	GGG		0.498	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		11	519	0	0	0	1	0	11	519				
CEP120	153241	broad.mit.edu	37	5	122734865	122734865	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122734865A>C	ENST00000306467.5	-	5	881	c.577T>G	c.(577-579)Tca>Gca	p.S193A	CEP120_ENST00000328236.5_Missense_Mutation_p.S193A|CEP120_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000306481.6_Missense_Mutation_p.S167A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	193					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGGTCACTGACATAATAAAG	0.428																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(577-579)Tca>Gca		centrosomal protein 120kDa							94.0	94.0	94.0					5																	122734865		2032	4192	6224	SO:0001583	missense	153241					centrosome		g.chr5:122734865A>C	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.577T>G	5.37:g.122734865A>C	ENSP00000303058:p.Ser193Ala					CEP120_ENST00000306481.6_Missense_Mutation_p.S167A|CEP120_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000328236.5_Missense_Mutation_p.S193A	p.S193A			Q8N960	CE120_HUMAN			5	881	-			193					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.577T>G	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361882	0.61403	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.52983	1.96;1.96;1.96;0.64	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.66337	-0.5949	10	0.40728	T	0.16	-15.2477	16.0663	0.80878	1.0:0.0:0.0:0.0	.	193	Q8N960	CE120_HUMAN	A	193;193;167;167;193	ENSP00000303058:S193A;ENSP00000327504:S193A;ENSP00000307419:S167A;ENSP00000421620:S167A	ENSP00000303058:S193A	S	-	1	0	CEP120	122762764	1.000000	0.71417	0.847000	0.33407	0.085000	0.17905	9.310000	0.96267	2.201000	0.70794	0.533000	0.62120	TCA		0.428	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		55	311	0	0	0	1	0	55	311				
IGSF10	285313	broad.mit.edu	37	3	151155762	151155762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151155762C>T	ENST00000282466.3	-	6	6586	c.6587G>A	c.(6586-6588)gGg>gAg	p.G2196E	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2196	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTCAAAGACCCATTGGCATG	0.438																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(6586-6588)gGg>gAg		immunoglobulin superfamily, member 10							111.0	108.0	109.0					3																	151155762		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155762C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6587G>A	3.37:g.151155762C>T	ENSP00000282466:p.Gly2196Glu					IGSF10_ENST00000495443.1_5'UTR	p.G2196E	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6586	-			2196			Ig-like C2-type 8.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.6587G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124812	0.56613	.	.	ENSG00000152580	ENST00000282466	T	0.35421	1.31	5.77	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133232	0.33980	N	0.004362	T	0.65491	0.2696	M	0.85542	2.76	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.969	T	0.73014	-0.4116	10	0.72032	D	0.01	.	16.9292	0.86186	0.0:0.8721:0.1279:0.0	.	2196;223	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	E	2196	ENSP00000282466:G2196E	ENSP00000282466:G2196E	G	-	2	0	IGSF10	152638452	1.000000	0.71417	0.963000	0.40424	0.335000	0.28730	5.731000	0.68554	1.428000	0.47296	0.591000	0.81541	GGG		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		80	387	0	0	0	1	0	80	387				
POC1B	282809	broad.mit.edu	37	12	89815013	89815013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89815013G>A	ENST00000313546.3	-	12	1482	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000393179.4_Nonsense_Mutation_p.R322*|POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	452					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAAGTCAGTCGCTGCTCCAAG	0.398																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(964-966)Cga>Tga		POC1 centriolar protein B							37.0	34.0	35.0					12																	89815013		2203	4300	6503	SO:0001587	stop_gained	282809							g.chr12:89815013G>A	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1354C>T	12.37:g.89815013G>A	ENSP00000323302:p.Arg452*					POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000313546.3_Nonsense_Mutation_p.R452*|POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*|POC1B_ENST00000378528.2_3'UTR	p.R322*							10	1577	-								G3V1X0	Nonsense_Mutation	SNP	ENST00000313546.3	37	c.964C>T	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	42	9.725795	0.99248	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	.	.	.	X	322;452;410	.	ENSP00000323302:R452X	R	-	1	2	POC1B	88339144	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.692000	0.74578	2.617000	0.88574	0.655000	0.94253	CGA		0.398	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		5	62	0	0	0	1	0	5	62				
ADCY10	55811	broad.mit.edu	37	1	167778989	167778989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167778989C>A	ENST00000367851.4	-	33	4943	c.4759G>T	c.(4759-4761)Ggc>Tgc	p.G1587C	ADCY10_ENST00000367848.1_Missense_Mutation_p.G1495C|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1587					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTACCCTGCCTGCTACAATT	0.373																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(4483-4485)Ggc>Tgc		adenylate cyclase 10 (soluble)							142.0	134.0	136.0					1																	167778989		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167778989C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4759G>T	1.37:g.167778989C>A	ENSP00000356825:p.Gly1587Cys					ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C|ADCY10_ENST00000367851.4_Missense_Mutation_p.G1587C|ADCY10_ENST00000485964.1_5'UTR	p.G1495C			Q96PN6	ADCYA_HUMAN			33	4980	-			1587					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.4483G>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251182	0.59212	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.35048	1.33;1.33;1.33	5.54	2.62	0.31277	.	0.354480	0.24542	N	0.037632	T	0.36853	0.0982	M	0.63428	1.95	0.36856	D	0.888131	D;D	0.71674	0.998;0.997	D;P	0.63192	0.912;0.819	T	0.36311	-0.9753	9	0.87932	D	0	-7.3277	8.1789	0.31298	0.0:0.7399:0.0:0.2601	.	1495;1587	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	C	1434;1587;1495	ENSP00000441992:G1434C;ENSP00000356825:G1587C;ENSP00000356822:G1495C	ENSP00000356822:G1495C	G	-	1	0	ADCY10	166045613	0.036000	0.19791	0.018000	0.16275	0.173000	0.22820	1.456000	0.35201	0.702000	0.31825	0.655000	0.94253	GGC		0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		22	496	1	0	2.89027e-11	1	3.08062e-11	22	496				
MIB1	57534	broad.mit.edu	37	18	19437203	19437203	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19437203C>T	ENST00000261537.6	+	19	3042	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	926					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGATGATATCTGTAAGTCGA	0.383																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.e19+1		mindbomb E3 ubiquitin protein ligase 1							232.0	180.0	198.0					18																	19437203		2203	4300	6503	SO:0001630	splice_region_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19437203C>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2779+1C>T	18.37:g.19437203C>T						MIB1_ENST00000578646.1_3'UTR	p.I926_splice	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		19	3042	+			926					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Splice_Site	SNP	ENST00000261537.6	37	c.2779_splice	CCDS11871.1																																																																																				0.383	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	Silent	39	182	0	0	0	1	0	39	182				
SPTBN5	51332	broad.mit.edu	37	15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A	rs528552734		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178429G>A	ENST00000320955.6	-	7	1251	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.R342W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTAGCTGCCGCATGGCGGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18261	0.0		0.001	False		,,,				2504	0.0					ENST00000320955.6																			1	Substitution - Missense(1)	p.R342W(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1024-1026)Cgg>Tgg		spectrin, beta, non-erythrocytic 5							25.0	29.0	28.0					15																	42178429		2001	4186	6187	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178429G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1024C>T	15.37:g.42178429G>A	ENSP00000317790:p.Arg342Trp						p.R342W	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	7	1251	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	342						Missense_Mutation	SNP	ENST00000320955.6	37	c.1024C>T		.	.	.	.	.	.	.	.	.	.	G	12.15	1.853048	0.32699	.	.	ENSG00000137877	ENST00000320955	T	0.69685	-0.42	4.84	1.88	0.25563	.	0.253231	0.33875	N	0.004463	T	0.71065	0.3296	L	0.55103	1.725	0.28927	N	0.891805	D	0.89917	1.0	D	0.70935	0.971	T	0.62548	-0.6831	10	0.37606	T	0.19	.	5.555	0.17111	0.2355:0.0:0.6179:0.1466	.	342	Q9NRC6	SPTN5_HUMAN	W	342	ENSP00000317790:R342W	ENSP00000317790:R342W	R	-	1	2	SPTBN5	39965721	0.990000	0.36364	0.900000	0.35374	0.002000	0.02628	2.511000	0.45476	0.110000	0.17919	-0.136000	0.14681	CGG		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		48	221	0	0	0	1	0	48	221				
GDF7	151449	broad.mit.edu	37	2	20871120	20871120	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20871120G>A	ENST00000272224.3	+	2	1864	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	430					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACATCGACGCCGCCAACAA	0.662																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(1288-1290)Gcc>Acc		growth differentiation factor 7							38.0	35.0	36.0					2																	20871120		2203	4300	6503	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20871120G>A	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1288G>A	2.37:g.20871120G>A	ENSP00000272224:p.Ala430Thr						p.A430T	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1864	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		430						Missense_Mutation	SNP	ENST00000272224.3	37	c.1288G>A	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164266	0.78339	.	.	ENSG00000143869	ENST00000272224	D	0.83992	-1.79	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.102833	0.38272	U	0.001750	D	0.83166	0.5195	L	0.27975	0.815	0.35487	D	0.798625	D	0.71674	0.998	D	0.65010	0.931	D	0.87335	0.2327	10	0.66056	D	0.02	.	11.3575	0.49623	0.0:0.0:0.706:0.294	.	430	Q7Z4P5	GDF7_HUMAN	T	430	ENSP00000272224:A430T	ENSP00000272224:A430T	A	+	1	0	GDF7	20734601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.357000	0.44125	2.187000	0.69744	0.561000	0.74099	GCC		0.662	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		28	168	0	0	0	1	0	28	168				
RABGAP1	23637	broad.mit.edu	37	9	125758828	125758828	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125758828C>A	ENST00000373647.4	+	8	1179	c.1045C>A	c.(1045-1047)Ctt>Att	p.L349I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	349					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTGTTTTGGTCTTCTCCTTAG	0.289																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1045-1047)Ctt>Att		RAB GTPase activating protein 1							87.0	85.0	86.0					9																	125758828		2203	4295	6498	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125758828C>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1045C>A	9.37:g.125758828C>A	ENSP00000362751:p.Leu349Ile						p.L349I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			8	1179	+			349					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1045C>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843805	0.71488	.	.	ENSG00000011454	ENST00000373647;ENST00000426918	T	0.05996	3.36	5.73	4.82	0.62117	.	0.077131	0.53938	D	0.000052	T	0.11281	0.0275	L	0.47190	1.495	0.80722	D	1	P	0.42337	0.776	P	0.48840	0.592	T	0.01748	-1.1282	10	0.66056	D	0.02	-7.2032	10.123	0.42632	0.0:0.7907:0.1382:0.0711	.	349	Q9Y3P9	RBGP1_HUMAN	I	349;180	ENSP00000362751:L349I	ENSP00000362751:L349I	L	+	1	0	RABGAP1	124798649	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.590000	0.53979	1.389000	0.46526	0.591000	0.81541	CTT		0.289	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		7	289	1	0	5.4927e-09	1	5.7613e-09	7	289				
GDPD5	81544	broad.mit.edu	37	11	75153542	75153542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153542G>T	ENST00000336898.3	-	12	1870	c.1033C>A	c.(1033-1035)Ctc>Atc	p.L345I	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I|GDPD5_ENST00000526177.1_Missense_Mutation_p.L207I|GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	345	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGCTCCAGGAGCTCTGCCAGG	0.632																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(619-621)Ctc>Atc		glycerophosphodiester phosphodiesterase domain containing 5							47.0	44.0	45.0					11																	75153542		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75153542G>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1033C>A	11.37:g.75153542G>T	ENSP00000337972:p.Leu345Ile					GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I|GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I|GDPD5_ENST00000336898.3_Missense_Mutation_p.L345I	p.L207I			Q8WTR4	GDPD5_HUMAN			8	2497	-			345					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.619C>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.912522	0.92178	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.34	5.34	0.76211	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.304858	0.31554	N	0.007460	T	0.24314	0.0589	L	0.41961	1.31	0.80722	D	1	D;D	0.57571	0.98;0.971	P;P	0.54664	0.758;0.755	T	0.00247	-1.1881	10	0.51188	T	0.08	-34.0308	16.549	0.84458	0.0:0.0:1.0:0.0	.	226;345	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	I	207;226;345;345;100;226	ENSP00000434050:L207I;ENSP00000437049:L226I;ENSP00000433214:L345I;ENSP00000337972:L345I;ENSP00000435196:L100I;ENSP00000365459:L226I	ENSP00000337972:L345I	L	-	1	0	GDPD5	74831190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.266000	0.51569	2.498000	0.84270	0.450000	0.29827	CTC		0.632	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		32	165	1	0	2.47511e-08	1	2.58473e-08	32	165				
UGT2B10	7365	broad.mit.edu	37	4	69682216	69682216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69682216C>T	ENST00000265403.7	+	1	506	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCTGCTGGCTGAGCTATTT	0.393																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(478-480)gCt>gTt		UDP glucuronosyltransferase 2 family, polypeptide B10							139.0	135.0	137.0					4																	69682216		2202	4297	6499	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682216C>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.479C>T	4.37:g.69682216C>T	ENSP00000265403:p.Ala160Val					UGT2B10_ENST00000458688.2_Intron	p.A160V	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			1	506	+			160					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.479C>T		.	.	.	.	.	.	.	.	.	.	c	17.94	3.510973	0.64522	.	.	ENSG00000109181	ENST00000265403	T	0.74421	-0.84	2.63	2.63	0.31362	.	0.000000	0.64402	U	0.000009	D	0.84456	0.5476	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	D	0.86687	0.1920	10	0.87932	D	0	.	10.7026	0.45937	0.0:1.0:0.0:0.0	.	160	P36537	UDB10_HUMAN	V	160	ENSP00000265403:A160V	ENSP00000265403:A160V	A	+	2	0	UGT2B10	69716805	1.000000	0.71417	0.275000	0.24674	0.013000	0.08279	6.485000	0.73625	1.309000	0.44985	0.184000	0.17185	GCT		0.393	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		108	563	0	0	0	1	0	108	563				
C15orf27	123591	broad.mit.edu	37	15	76484318	76484318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76484318C>T	ENST00000388942.3	+	9	1054	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	260					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTTTGAGATCCGGCAGCTGCG	0.736																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(778-780)Cgg>Tgg		chromosome 15 open reading frame 27							8.0	10.0	9.0					15																	76484318		2037	4010	6047	SO:0001583	missense	123591					integral to membrane		g.chr15:76484318C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.778C>T	15.37:g.76484318C>T	ENSP00000373594:p.Arg260Trp						p.R260W	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			9	1054	+			260					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.778C>T	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780264	0.49891	.	.	ENSG00000169758	ENST00000388942	T	0.35048	1.33	4.58	3.58	0.41010	.	0.114885	0.56097	D	0.000038	T	0.53546	0.1803	M	0.66939	2.045	0.49915	D	0.999836	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.917	T	0.56257	-0.8009	10	0.72032	D	0.01	-15.5283	9.394	0.38390	0.3178:0.6821:0.0:0.0	.	224;260	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	W	260	ENSP00000373594:R260W	ENSP00000373594:R260W	R	+	1	2	C15orf27	74271373	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.662000	0.46766	2.097000	0.63578	0.491000	0.48974	CGG		0.736	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		24	128	0	0	0	1	0	24	128				
ZNF614	80110	broad.mit.edu	37	19	52520505	52520505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52520505G>T	ENST00000270649.6	-	5	890	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTCTTGCTGAGATGTACAATA	0.358																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(346-348)Ctc>Atc		zinc finger protein 614							93.0	88.0	90.0					19																	52520505		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52520505G>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.346C>A	19.37:g.52520505G>T	ENSP00000270649:p.Leu116Ile					ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	p.L116I	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	890	-		all_neural(266;0.0505)	116					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.346C>A	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	3.983	-0.005997	0.07773	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.07688	5.93;3.17	2.58	0.269	0.15631	.	.	.	.	.	T	0.04272	0.0118	L	0.27053	0.805	0.20196	N	0.999921	P;P	0.44195	0.828;0.69	B;B	0.36289	0.221;0.109	T	0.38457	-0.9660	9	0.23302	T	0.38	.	3.6231	0.08103	0.1561:0.263:0.5809:0.0	.	116;116	Q8N883;Q9BSN8	ZN614_HUMAN;.	I	116	ENSP00000348674:L116I;ENSP00000270649:L116I	ENSP00000270649:L116I	L	-	1	0	ZNF614	57212317	0.000000	0.05858	0.025000	0.17156	0.017000	0.09413	-0.340000	0.07821	0.145000	0.18977	0.591000	0.81541	CTC		0.358	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		51	220	1	0	3.10996e-30	1	3.64561e-30	51	220				
FOXO3	2309	broad.mit.edu	37	6	108984662	108984662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984662C>T	ENST00000343882.6	+	3	930	c.626C>T	c.(625-627)tCc>tTc	p.S209F	FOXO3_ENST00000540898.1_5'UTR|FOXO3_ENST00000406360.1_Missense_Mutation_p.S209F	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	209					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTGCAGAACTCCATCCGGCAC	0.468																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(625-627)tCc>tTc		forkhead box O3							50.0	52.0	51.0					6																	108984662		2197	4288	6485	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984662C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.626C>T	6.37:g.108984662C>T	ENSP00000339527:p.Ser209Phe					FOXO3_ENST00000540898.1_5'UTR|FOXO3_ENST00000343882.6_Missense_Mutation_p.S209F	p.S209F	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	969	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	209					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.626C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615266	0.66672	.	.	ENSG00000118689	ENST00000343882;ENST00000406360	D;D	0.97665	-4.48;-4.48	5.83	5.83	0.93111	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99126	1.0851	10	0.87932	D	0	-14.0329	20.1236	0.97970	0.0:1.0:0.0:0.0	.	209	O43524	FOXO3_HUMAN	F	209	ENSP00000339527:S209F;ENSP00000385824:S209F	ENSP00000339527:S209F	S	+	2	0	FOXO3	109091355	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	7.487000	0.81328	2.765000	0.95021	0.555000	0.69702	TCC		0.468	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			64	316	0	0	0	1	0	64	316				
EPB42	2038	broad.mit.edu	37	15	43503705	43503705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43503705G>A	ENST00000441366.2	-	4	683	c.458C>T	c.(457-459)gCt>gTt	p.A153V	EPB42_ENST00000540029.1_Missense_Mutation_p.A75V|EPB42_ENST00000300215.3_Missense_Mutation_p.A183V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	153					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CATGCGCTGAGCCTCATTCTT	0.577																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(547-549)gCt>gTt		erythrocyte membrane protein band 4.2							159.0	125.0	137.0					15																	43503705		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43503705G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.458C>T	15.37:g.43503705G>A	ENSP00000396616:p.Ala153Val					EPB42_ENST00000540029.1_Missense_Mutation_p.A75V|EPB42_ENST00000441366.2_Missense_Mutation_p.A153V	p.A183V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	4	1005	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	153					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.548C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810516	0.50421	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.87256	-1.82;-2.23;-1.82	5.84	4.91	0.64330	.	0.164522	0.53938	N	0.000053	D	0.83871	0.5348	M	0.64080	1.96	0.30097	N	0.807804	B;P;P	0.45986	0.023;0.87;0.476	B;B;B	0.42138	0.054;0.377;0.209	T	0.80329	-0.1428	10	0.30078	T	0.28	-4.773	8.7641	0.34692	0.0803:0.1502:0.7694:0.0	.	75;183;153	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	V	183;75;153;153	ENSP00000300215:A183V;ENSP00000444699:A75V;ENSP00000396616:A153V	ENSP00000300215:A183V	A	-	2	0	EPB42	41290997	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	1.926000	0.40084	1.460000	0.47911	0.655000	0.94253	GCT		0.577	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		16	408	0	0	0	1	0	16	408				
LCE1D	353134	broad.mit.edu	37	1	152770357	152770357	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770357T>C	ENST00000326233.6	+	2	130	c.87T>C	c.(85-87)tgT>tgC	p.C29C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	29	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAAATGTCCCCCTAAGT	0.657																																						ENST00000326233.6																			0				large_intestine(1)	1						c.(85-87)tgT>tgC		late cornified envelope 1D							45.0	45.0	45.0					1																	152770357		2099	3880	5979	SO:0001819	synonymous_variant	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770357T>C		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.87T>C	1.37:g.152770357T>C							p.C29C	NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	130	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Cys-rich.			Silent	SNP	ENST00000326233.6	37	c.87T>C	CCDS1025.1																																																																																				0.657	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		94	217	0	0	0	1	0	94	217				
NPC1L1	29881	broad.mit.edu	37	7	44579675	44579675	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579675C>A	ENST00000289547.4	-	2	376	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NPC1L1_ENST00000423141.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	107					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAGGAGGGCCTTGGTGATCG	0.592																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(319-321)aaG>aaT		NPC1-like 1	Ezetimibe(DB00973)						83.0	74.0	77.0					7																	44579675		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579675C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.321G>T	7.37:g.44579675C>A	ENSP00000289547:p.Lys107Asn					NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N|NPC1L1_ENST00000423141.1_Missense_Mutation_p.K107N	p.K107N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	376	-			107					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.321G>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	9.686	1.150677	0.21371	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.9	4.01	0.46588	.	0.055764	0.64402	D	0.000002	D	0.91236	0.7238	L	0.48218	1.51	0.42876	D	0.994154	D;D;P;D	0.89917	0.959;1.0;0.867;0.999	P;D;B;P	0.87578	0.463;0.998;0.348;0.904	D	0.87513	0.2441	10	0.17832	T	0.49	-33.0028	7.9746	0.30147	0.0:0.8104:0.0:0.1896	.	107;107;107;107	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	N	107	ENSP00000289547:K107N;ENSP00000370552:K107N;ENSP00000438033:K107N;ENSP00000404670:K107N	ENSP00000289547:K107N	K	-	3	2	NPC1L1	44546200	0.961000	0.32948	1.000000	0.80357	0.655000	0.38815	0.323000	0.19593	2.262000	0.75019	0.555000	0.69702	AAG		0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		36	252	1	0	2.75727e-19	1	3.0731e-19	36	252				
GRK7	131890	broad.mit.edu	37	3	141526556	141526556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526556T>C	ENST00000264952.2	+	3	1257	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCTGTGGACTGGTTTGCCAT	0.418																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1120-1122)Tgg>Cgg		G protein-coupled receptor kinase 7							116.0	115.0	115.0					3																	141526556		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141526556T>C		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1120T>C	3.37:g.141526556T>C	ENSP00000264952:p.Trp374Arg						p.W374R	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			3	1257	+			374			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1120T>C	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246655	0.80024	.	.	ENSG00000114124	ENST00000264952	T	0.24723	1.84	4.93	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74731	-0.3566	10	0.87932	D	0	-9.2897	14.5933	0.68386	0.0:0.0:0.0:1.0	.	374	Q8WTQ7	GRK7_HUMAN	R	374	ENSP00000264952:W374R	ENSP00000264952:W374R	W	+	1	0	GRK7	143009246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	1.847000	0.53656	0.528000	0.53228	TGG		0.418	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		93	444	0	0	0	1	0	93	444				
STRC	161497	broad.mit.edu	37	15	43897593	43897593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43897593G>A	ENST00000450892.2	-	19	3876	c.3799C>T	c.(3799-3801)Cag>Tag	p.Q1267*	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Nonsense_Mutation_p.Q494*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1267					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCCATCAACTGGATCCTATTA	0.532																																						ENST00000450892.2																			0				skin(4)	4						c.(3799-3801)Cag>Tag		stereocilin							35.0	27.0	30.0					15																	43897593		2199	4297	6496	SO:0001587	stop_gained	161497				sensory perception of sound	cell surface		g.chr15:43897593G>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3799C>T	15.37:g.43897593G>A	ENSP00000401513:p.Gln1267*					STRC_ENST00000541030.1_Nonsense_Mutation_p.Q494*	p.Q1267*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	19	3876	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1267						Nonsense_Mutation	SNP	ENST00000450892.2	37	c.3799C>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	38	7.279096	0.98182	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	.	.	.	5.46	3.59	0.41128	.	0.845936	0.10432	N	0.675342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	0.6165	8.9018	0.35499	0.1737:0.0:0.8263:0.0	.	.	.	.	X	1267;1267;494	.	ENSP00000299992:Q1267X	Q	-	1	0	STRC	41684885	0.133000	0.22466	0.020000	0.16555	0.230000	0.25150	1.498000	0.35660	0.795000	0.33922	0.556000	0.70494	CAG		0.532	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		3	49	0	0	0	1	0	3	49				
ZIC1	7545	broad.mit.edu	37	3	147131179	147131179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131179G>A	ENST00000282928.4	+	3	1914	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	395	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCCTTCGCCGGCCGCCAGCT	0.617																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1183-1185)ccG>ccA		Zic family member 1							92.0	84.0	87.0					3																	147131179		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131179G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1185G>A	3.37:g.147131179G>A							p.P395P	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			3	1914	+			395			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1185G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311996	0.23821	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.37	-2.35	0.06684	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30208	-0.9986	4	.	.	.	.	3.8539	0.08967	0.1738:0.4747:0.2441:0.1074	.	.	.	.	Q	84	.	.	R	+	2	0	ZIC1	148613869	0.105000	0.21958	0.996000	0.52242	0.964000	0.63967	-0.548000	0.06048	-0.442000	0.07190	0.462000	0.41574	CGG		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		100	453	0	0	0	1	0	100	453				
TJP1	7082	broad.mit.edu	37	15	30011019	30011019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30011019C>A	ENST00000346128.6	-	21	3801	c.3327G>T	c.(3325-3327)caG>caT	p.Q1109H	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1109					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTGAGAGTGCTGATTATCAA	0.498																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(3325-3327)caG>caT		tight junction protein 1							215.0	213.0	214.0					15																	30011019		2087	4211	6298	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30011019C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3327G>T	15.37:g.30011019C>A	ENSP00000281537:p.Gln1109His					TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H	p.Q1109H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	21	3801	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1109					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.3327G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042766	0.75732	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.07216	3.21;3.27	6.06	3.13	0.36017	.	0.270402	0.43416	N	0.000561	T	0.14700	0.0355	L	0.58101	1.795	0.80722	D	1	D;D;D;B	0.62365	0.991;0.975;0.966;0.001	P;P;P;B	0.54140	0.646;0.743;0.641;0.007	T	0.01108	-1.1449	10	0.52906	T	0.07	.	6.8109	0.23805	0.0:0.6724:0.1273:0.2003	.	1102;1029;1109;1033	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1109;1033;1109;1029;1029	ENSP00000281537:Q1109H;ENSP00000382890:Q1033H	ENSP00000281537:Q1109H	Q	-	3	2	TJP1	27798311	0.999000	0.42202	0.988000	0.46212	0.959000	0.62525	0.657000	0.24963	0.424000	0.26061	-0.140000	0.14226	CAG		0.498	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		120	609	1	0	1.24258e-46	1	1.52757e-46	120	609				
AFF2	2334	broad.mit.edu	37	X	147744092	147744092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147744092C>T	ENST00000370460.2	+	3	1323	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	282					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCATGGGGCAGCAAAAGCC	0.507																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(844-846)Cag>Tag		AF4/FMR2 family, member 2							93.0	91.0	92.0					X																	147744092		2203	4300	6503	SO:0001587	stop_gained	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147744092C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.844C>T	X.37:g.147744092C>T	ENSP00000359489:p.Gln282*					AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*	p.Q282*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			3	1323	+	Acute lymphoblastic leukemia(192;6.56e-05)		282					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	37	c.844C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	42	9.387678	0.99156	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.814	0.92070	0.0:1.0:0.0:0.0	.	.	.	.	X	282;278;278;278	.	ENSP00000345459:Q278X	Q	+	1	0	AFF2	147551784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	2.389000	0.81357	0.600000	0.82982	CAG		0.507	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		158	486	0	0	0	1	0	158	486				
DMTN	2039	broad.mit.edu	37	8	21926954	21926954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21926954G>A	ENST00000523266.1	+	6	781	c.319G>A	c.(319-321)Gga>Aga	p.G107R	DMTN_ENST00000381470.3_Missense_Mutation_p.G107R|DMTN_ENST00000432128.1_Missense_Mutation_p.G107R|DMTN_ENST00000523782.2_Missense_Mutation_p.G82R|DMTN_ENST00000265800.5_Missense_Mutation_p.G107R|DMTN_ENST00000519907.1_Missense_Mutation_p.G107R|DMTN_ENST00000358242.3_Missense_Mutation_p.G107R|DMTN_ENST00000517600.1_Missense_Mutation_p.G67R|DMTN_ENST00000443491.2_Missense_Mutation_p.G82R|DMTN_ENST00000415253.1_Missense_Mutation_p.G107R	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	107					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CCGGTCGCCTGGAATCATCTC	0.647																																						ENST00000358242.3																			0											c.(319-321)Gga>Aga		dematin actin binding protein							54.0	56.0	55.0					8																	21926954		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21926954G>A	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.319G>A	8.37:g.21926954G>A	ENSP00000427866:p.Gly107Arg					DMTN_ENST00000415253.1_Missense_Mutation_p.G107R|DMTN_ENST00000523782.2_Missense_Mutation_p.G82R|DMTN_ENST00000523266.1_Missense_Mutation_p.G107R|DMTN_ENST00000519907.1_Missense_Mutation_p.G107R|DMTN_ENST00000381470.3_Missense_Mutation_p.G107R|DMTN_ENST00000265800.5_Missense_Mutation_p.G107R|DMTN_ENST00000517600.1_Missense_Mutation_p.G67R|DMTN_ENST00000443491.2_Missense_Mutation_p.G82R|DMTN_ENST00000432128.1_Missense_Mutation_p.G107R	p.G107R							6	812	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.319G>A	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394362	0.25205	.	.	ENSG00000158856	ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.51;1.03;1.03;1.03;1.03;1.03;1.51;1.51;1.51;1.03;1.51;1.03;1.03;1.03;1.03	4.7	4.7	0.59300	.	0.607633	0.15551	N	0.256395	T	0.19967	0.0480	N	0.04245	-0.25	0.36855	D	0.888083	P;B;B;B;B;B	0.42409	0.779;0.012;0.012;0.001;0.002;0.0	B;B;B;B;B;B	0.32149	0.141;0.012;0.012;0.004;0.007;0.001	T	0.29822	-0.9999	10	0.59425	D	0.04	.	13.0621	0.59012	0.0:0.0:1.0:0.0	.	46;67;107;82;82;107	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	R	82;107;107;107;82;67;67;82;82;107;107;46;107;107;107;107;107	ENSP00000429116:G82R;ENSP00000430600:G107R;ENSP00000370879:G107R;ENSP00000416111:G107R;ENSP00000397904:G82R;ENSP00000430618:G67R;ENSP00000428733:G82R;ENSP00000430382:G82R;ENSP00000428415:G107R;ENSP00000265800:G107R;ENSP00000429948:G107R;ENSP00000350977:G107R;ENSP00000401291:G107R;ENSP00000427866:G107R;ENSP00000429377:G107R	ENSP00000265800:G107R	G	+	1	0	EPB49	21982900	0.994000	0.37717	0.977000	0.42913	0.023000	0.10783	5.047000	0.64232	2.472000	0.83506	0.650000	0.86243	GGA		0.647	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		31	143	0	0	0	1	0	31	143				
IFRD1	3475	broad.mit.edu	37	7	112095877	112095877	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095877A>T	ENST00000403825.3	+	2	415	c.154A>T	c.(154-156)Agc>Tgc	p.S52C	IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C|IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	52					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGAAACAATGAGCCATTGCAG	0.358																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(154-156)Agc>Tgc		interferon-related developmental regulator 1							150.0	144.0	146.0					7																	112095877		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112095877A>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.154A>T	7.37:g.112095877A>T	ENSP00000384477:p.Ser52Cys					IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C|IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C	p.S52C	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			2	415	+			52					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.154A>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851288	0.91355	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000445335;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.60171	0.21;0.21;0.43	5.06	5.06	0.68205	Interferon-related developmental regulator, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.947;1.0	T	0.82657	-0.0349	10	0.87932	D	0	-21.3305	15.0963	0.72238	1.0:0.0:0.0:0.0	.	52;52	C9JA65;O00458	.;IFRD1_HUMAN	C	52;2;52;52;52;2;2;2	ENSP00000005558:S52C;ENSP00000384477:S52C;ENSP00000439188:S2C	ENSP00000005558:S52C	S	+	1	0	IFRD1	111883113	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.622000	0.90953	2.026000	0.59711	0.377000	0.23210	AGC		0.358	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		71	404	0	0	0	1	0	71	404				
ZNF654	55279	broad.mit.edu	37	3	88188660	88188660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88188660C>T	ENST00000309495.5	+	1	407	c.200C>T	c.(199-201)aCt>aTt	p.T67I	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGGAAGTCACTGCTTTGGAA	0.373																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(199-201)aCt>aTt		zinc finger protein 654							85.0	85.0	85.0					3																	88188660		1881	4108	5989	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88188660C>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.200C>T	3.37:g.88188660C>T	ENSP00000312141:p.Thr67Ile					CGGBP1_ENST00000462901.1_Intron	p.T67I	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	407	+		Lung NSC(201;0.0283)	67					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.200C>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173623	0.01646	.	.	ENSG00000175105	ENST00000309495	T	0.10192	2.9	5.43	3.61	0.41365	.	0.482456	0.19907	N	0.103373	T	0.05914	0.0154	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.35671	T	0.21	.	10.8603	0.46823	0.0:0.8662:0.0:0.1338	.	67	Q8IZM8	ZN654_HUMAN	I	67	ENSP00000312141:T67I	ENSP00000312141:T67I	T	+	2	0	ZNF654	88271350	0.002000	0.14202	0.404000	0.26397	0.406000	0.30931	1.473000	0.35387	0.655000	0.30866	0.549000	0.68633	ACT		0.373	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		53	206	0	0	0	1	0	53	206				
H1FNT	341567	broad.mit.edu	37	12	48723547	48723547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48723547G>A	ENST00000335017.1	+	1	785	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	158	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGAGGCGCCGCCAGCCCCTT	0.716																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(472-474)cGc>cAc		H1 histone family, member N, testis-specific							10.0	11.0	11.0					12																	48723547		2151	4193	6344	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723547G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.473G>A	12.37:g.48723547G>A	ENSP00000334805:p.Arg158His						p.R158H	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	785	+			158			Arg-rich.		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.473G>A	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714486	0.48622	.	.	ENSG00000187166	ENST00000335017	T	0.18810	2.19	4.83	-1.92	0.07618	.	0.851979	0.09573	N	0.783862	T	0.14399	0.0348	L	0.43152	1.355	0.09310	N	1	B	0.30211	0.273	B	0.20184	0.028	T	0.20739	-1.0266	10	0.52906	T	0.07	-2.4843	6.1284	0.20192	0.238:0.3845:0.3775:0.0	.	158	Q75WM6	H1FNT_HUMAN	H	158	ENSP00000334805:R158H	ENSP00000334805:R158H	R	+	2	0	H1FNT	47009814	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.264000	0.18497	-0.333000	0.08476	0.650000	0.86243	CGC		0.716	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		17	62	0	0	0	1	0	17	62				
DHX16	8449	broad.mit.edu	37	6	30628018	30628018	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30628018C>T	ENST00000376442.3	-	10	1741	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Splice_Site_p.V35M	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	516	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						ACCATCACCACGCTGGGGAGG	0.512																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.e10-1		DEAH (Asp-Glu-Ala-His) box polypeptide 16							103.0	89.0	94.0					6																	30628018		1510	2709	4219	SO:0001630	splice_region_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30628018C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1545-1G>A	6.37:g.30628018C>T						DHX16_ENST00000376437.5_Splice_Site_p.V35_splice|DHX16_ENST00000480966.1_5'UTR	p.V516_splice	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			10	1741	-			516			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Splice_Site	SNP	ENST00000376442.3	37	c.1544_splice	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660165	0.67586	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.24723	1.84;1.84	4.9	4.9	0.64082	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.995;0.99;0.999	P;D;D	0.65874	0.791;0.914;0.939	T	0.65796	-0.6081	10	0.87932	D	0	.	17.3695	0.87372	0.0:1.0:0.0:0.0	.	456;516;35	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	M	516;35	ENSP00000365625:V516M;ENSP00000365620:V35M	ENSP00000365620:V35M	V	-	1	0	DHX16	30735997	0.996000	0.38824	0.962000	0.40283	0.409000	0.31022	3.337000	0.52120	2.707000	0.92482	0.555000	0.69702	GTG		0.512	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	Missense_Mutation	41	209	0	0	0	1	0	41	209				
MBD2	8932	broad.mit.edu	37	18	51715256	51715256	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51715256T>G	ENST00000256429.3	-	3	1056	c.828A>C	c.(826-828)gaA>gaC	p.E276D		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	276					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		GACGTGGCTGTTCATTCATTC	0.333																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(826-828)gaA>gaC		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						238.0	222.0	227.0					18																	51715256		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51715256T>G	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.828A>C	18.37:g.51715256T>G	ENSP00000256429:p.Glu276Asp						p.E276D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	3	1056	-			276					O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.828A>C	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	T	9.447	1.089478	0.20390	.	.	ENSG00000134046	ENST00000256429	D	0.98666	-5.06	5.39	1.64	0.23874	.	0.219657	0.37715	N	0.001979	D	0.92815	0.7715	N	0.03324	-0.35	0.80722	D	1	B	0.09022	0.002	B	0.17722	0.019	D	0.84547	0.0642	10	0.25106	T	0.35	-8.3278	8.2329	0.31608	0.0:0.2511:0.0:0.7488	.	276	Q9UBB5	MBD2_HUMAN	D	276	ENSP00000256429:E276D	ENSP00000256429:E276D	E	-	3	2	MBD2	49969254	0.984000	0.35163	0.999000	0.59377	0.998000	0.95712	0.065000	0.14466	0.037000	0.15575	0.460000	0.39030	GAA		0.333	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		138	666	0	0	0	1	0	138	666				
C2CD2L	9854	broad.mit.edu	37	11	118984608	118984608	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984608A>G	ENST00000528586.1	+	8	847	c.777A>G	c.(775-777)acA>acG	p.T259T	C2CD2L_ENST00000336702.3_Silent_p.T512T			O14523	C2C2L_HUMAN	C2CD2-like	511						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TAGCAGAGACAGCGATTCGCC	0.567																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1534-1536)acA>acG		C2CD2-like							54.0	58.0	57.0					11																	118984608		2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118984608A>G	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.777A>G	11.37:g.118984608A>G						C2CD2L_ENST00000528586.1_Silent_p.T259T	p.T512T	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			12	1895	+			511					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.1536A>G																																																																																					0.567	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		52	283	0	0	0	1	0	52	283				
OR5H1	26341	broad.mit.edu	37	3	97851957	97851957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97851957G>T	ENST00000354565.2	+	1	416	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATGACCAATGGACTGTGCATC	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(415-417)gGa>gTa		olfactory receptor, family 5, subfamily H, member 1							70.0	78.0	75.0					3																	97851957		2183	4267	6450	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851957G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.416G>T	3.37:g.97851957G>T	ENSP00000346575:p.Gly139Val					RP11-343D2.11_ENST00000508964.1_RNA	p.G139V	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	416	+			139						Missense_Mutation	SNP	ENST00000354565.2	37	c.416G>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	0.866	-0.733512	0.03111	.	.	ENSG00000231192	ENST00000354565	T	0.37235	1.21	3.57	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.262517	0.26911	N	0.021867	T	0.24044	0.0582	L	0.33668	1.02	0.09310	N	1	B	0.23806	0.091	B	0.25759	0.063	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.4464	0.16537	0.3814:0.0:0.6186:0.0	.	139	A6NKK0	OR5H1_HUMAN	V	139	ENSP00000346575:G139V	ENSP00000346575:G139V	G	+	2	0	OR5H1	99334647	0.000000	0.05858	0.022000	0.16811	0.037000	0.13140	-0.955000	0.03869	0.197000	0.20387	0.195000	0.17529	GGA		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		93	553	1	0	2.84102e-47	1	3.49602e-47	93	553				
VPS52	6293	broad.mit.edu	37	6	33218738	33218738	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33218738G>T	ENST00000445902.2	-	20	2270	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L	HCG25_ENST00000422366.1_RNA|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	684					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGCGATGATAGAGCTGGATCA	0.537																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(2050-2052)ctC>ctA		vacuolar protein sorting 52 homolog (S. cerevisiae)							63.0	67.0	66.0					6																	33218738		1510	2707	4217	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33218738G>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.2052C>A	6.37:g.33218738G>T						HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA	p.L684L	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			20	2270	-			684					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.2052C>A	CCDS4770.2																																																																																				0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		18	382	1	0	1.33834e-09	1	1.40959e-09	18	382				
FBN1	2200	broad.mit.edu	37	15	48812972	48812972	+	Missense_Mutation	SNP	C	C	T	rs200388305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48812972C>T	ENST00000316623.5	-	10	1486	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	344	TB 2.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTAGAGCAGCGCCCGTTTGT	0.517																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(1030-1032)cGc>cAc		fibrillin 1							79.0	68.0	72.0					15																	48812972		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48812972C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1031G>A	15.37:g.48812972C>T	ENSP00000325527:p.Arg344His						p.R344H	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	10	1486	-		all_lung(180;0.00279)	344			TB 2.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1031G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569925	0.96540	.	.	ENSG00000166147	ENST00000316623	D	0.93426	-3.22	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94643	0.7832	10	0.37606	T	0.19	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	344	P35555	FBN1_HUMAN	H	344	ENSP00000325527:R344H	ENSP00000325527:R344H	R	-	2	0	FBN1	46600264	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.939000	0.56591	2.941000	0.99782	0.655000	0.94253	CGC		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			44	206	0	0	0	1	0	44	206				
SIK3	23387	broad.mit.edu	37	11	116718256	116718256	+	Silent	SNP	C	C	T	rs139869704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116718256C>T	ENST00000292055.4	-	22	3605	c.3570G>A	c.(3568-3570)tcG>tcA	p.S1190S	SIK3_ENST00000375300.1_Silent_p.S1248S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19202	0.0		0.0	False		,,,				2504	0.0					ENST00000375300.1																			1	Substitution - coding silent(1)	p.S1296S(1)	lung(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(3742-3744)tcG>tcA		SIK family kinase 3		C		6,4396	11.4+/-27.6	0,6,2195	180.0	162.0	168.0		3570	-7.1	1.0	11	dbSNP_134	168	0,8584		0,0,4292	no	coding-synonymous	SIK3	NM_025164.3		0,6,6487	TT,TC,CC		0.0,0.1363,0.0462		1190/1264	116718256	6,12980	2201	4292	6493	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116718256C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3570G>A	11.37:g.116718256C>T						SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000292055.4_Silent_p.S1190S|AP006216.12_ENST00000444200.1_RNA	p.S1248S			Q9Y2K2	SIK3_HUMAN			22	3749	-			1190					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.3744G>A	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653220	0.14580	0.001363	0.0	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	4.92	-7.05	0.01573	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	1.8087	0.03086	0.2159:0.3505:0.2393:0.1943	.	.	.	.	R	1290;30;1153	.	.	G	-	1	0	SIK3	116223466	0.000000	0.05858	0.979000	0.43373	0.762000	0.43233	-3.221000	0.00552	-0.691000	0.05135	-1.113000	0.02065	GGA		0.512	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		130	687	0	0	0	1	0	130	687				
C1S	716	broad.mit.edu	37	12	7173250	7173250	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7173250T>C	ENST00000406697.1	+	10	1475	c.847T>C	c.(847-849)Tgg>Cgg	p.W283R	C1S_ENST00000402681.3_Missense_Mutation_p.W116R|C1S_ENST00000328916.3_Missense_Mutation_p.W283R|C1S_ENST00000360817.5_Missense_Mutation_p.W283R			P09871	C1S_HUMAN	complement component 1, s subcomponent	283	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AAAAAAGGGCTGGAAACTTCG	0.428																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(847-849)Tgg>Cgg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						135.0	128.0	131.0					12																	7173250		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7173250T>C		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.847T>C	12.37:g.7173250T>C	ENSP00000385035:p.Trp283Arg					C1S_ENST00000360817.5_Missense_Mutation_p.W283R|C1S_ENST00000328916.3_Missense_Mutation_p.W283R|C1S_ENST00000402681.3_Missense_Mutation_p.W116R	p.W283R			P09871	C1S_HUMAN			10	1475	+			283			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.847T>C	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955948	0.73902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.75	5.75	0.90469	CUB (5);	0.000000	0.39687	N	0.001290	T	0.53802	0.1819	M	0.89478	3.035	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.62978	-0.6739	10	0.87932	D	0	.	15.2367	0.73436	0.0:0.0:0.0:1.0	.	283	P09871	C1S_HUMAN	R	283;283;283;271;116;116	ENSP00000385035:W283R;ENSP00000328173:W283R;ENSP00000354057:W283R;ENSP00000384171:W116R;ENSP00000442298:W116R	ENSP00000328173:W283R	W	+	1	0	C1S	7043511	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.857000	0.69525	2.185000	0.69588	0.459000	0.35465	TGG		0.428	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		51	330	0	0	0	1	0	51	330				
TMEM229B	161145	broad.mit.edu	37	14	67940506	67940506	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67940506C>T	ENST00000557006.1	-	4	417	c.135G>A	c.(133-135)acG>acA	p.T45T	TMEM229B_ENST00000357461.2_Silent_p.T45T			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	45						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCACACGCTCGTGACCCCAG	0.627																																						ENST00000357461.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(133-135)acG>acA		transmembrane protein 229B							60.0	39.0	46.0					14																	67940506		2203	4300	6503	SO:0001819	synonymous_variant	161145					integral to membrane		g.chr14:67940506C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.135G>A	14.37:g.67940506C>T						TMEM229B_ENST00000557006.1_Silent_p.T45T	p.T45T	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN			3	544	-			45						Silent	SNP	ENST00000557006.1	37	c.135G>A	CCDS9783.1																																																																																				0.627	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		19	117	0	0	0	1	0	19	117				
CHML	1122	broad.mit.edu	37	1	241797861	241797861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241797861C>T	ENST00000366553.1	-	1	1371	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	403					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACTTTATGACGAAGACAATA	0.373																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1207-1209)cGt>cAt		choroideremia-like (Rab escort protein 2)							68.0	73.0	71.0					1																	241797861		2201	4298	6499	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797861C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1208G>A	1.37:g.241797861C>T	ENSP00000355511:p.Arg403His					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.R403H	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1371	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	403					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1208G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815051	0.32053	.	.	ENSG00000203668	ENST00000366553	T	0.59772	0.24	4.4	3.45	0.39498	.	0.286793	0.38492	U	0.001671	T	0.41949	0.1181	.	.	.	0.42068	D	0.991193	B	0.28178	0.202	B	0.22880	0.042	T	0.36407	-0.9749	9	0.41790	T	0.15	-4.2563	7.1729	0.25728	0.0:0.8721:0.0:0.1279	.	403	P26374	RAE2_HUMAN	H	403	ENSP00000355511:R403H	ENSP00000355511:R403H	R	-	2	0	CHML	239864484	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	1.321000	0.33678	1.377000	0.46286	0.655000	0.94253	CGT		0.373	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		62	323	0	0	0	1	0	62	323				
UTP14C	9724	broad.mit.edu	37	13	52603460	52603460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603460C>T	ENST00000521776.2	+	2	1253	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	174					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAACATGCGCTCAGTGGCTG	0.527																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(520-522)Ctc>Ttc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							62.0	64.0	63.0					13																	52603460		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603460C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.520C>T	13.37:g.52603460C>T	ENSP00000428619:p.Leu174Phe					ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.L174F	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1253	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	174					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.520C>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	2.359	-0.346969	0.05208	.	.	ENSG00000253797	ENST00000521776	T	0.18810	2.19	2.46	0.519	0.17035	.	0.328689	0.30365	N	0.009795	T	0.08133	0.0203	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.23261	-1.0193	10	0.20519	T	0.43	-3.1721	1.2538	0.01988	0.2225:0.4149:0.2187:0.1439	.	174	Q5TAP6	UT14C_HUMAN	F	174	ENSP00000428619:L174F	ENSP00000428619:L174F	L	+	1	0	UTP14C	51501461	0.000000	0.05858	0.741000	0.31004	0.880000	0.50808	-0.181000	0.09740	-0.036000	0.13669	0.448000	0.29417	CTC		0.527	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		65	341	0	0	0	1	0	65	341				
SATL1	340562	broad.mit.edu	37	X	84363222	84363222	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:84363222T>C	ENST00000395409.3	-	1	752	c.192A>G	c.(190-192)tcA>tcG	p.S64S	SATL1_ENST00000509231.1_Silent_p.S251S|SATL1_ENST00000332921.5_Silent_p.S64S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	64	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGATAAACTTGATTGGTTTG	0.463																																						ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(751-753)tcA>tcG		spermidine/spermine N1-acetyl transferase-like 1							370.0	289.0	316.0					X																	84363222		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84363222T>C	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.192A>G	X.37:g.84363222T>C						SATL1_ENST00000395409.3_Silent_p.S64S|SATL1_ENST00000332921.5_Silent_p.S64S	p.S251S			Q86VE3	SATL1_HUMAN			1	832	-			64			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.753A>G																																																																																					0.463	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		172	613	0	0	0	1	0	172	613				
SH3TC1	54436	broad.mit.edu	37	4	8229700	8229700	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229700G>T	ENST00000245105.3	+	12	2346	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	SH3TC1_ENST00000539824.1_Missense_Mutation_p.S684I	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	760										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCCCCACAGCCTCCCTGCC	0.692																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2050-2052)aGc>aTc		SH3 domain and tetratricopeptide repeats 1							35.0	33.0	34.0					4																	8229700		2202	4299	6501	SO:0001583	missense	54436						binding	g.chr4:8229700G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2279G>T	4.37:g.8229700G>T	ENSP00000245105:p.Ser760Ile					SH3TC1_ENST00000245105.3_Missense_Mutation_p.S760I	p.S684I			Q8TE82	S3TC1_HUMAN			12	2425	+			760					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2051G>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	1.898	-0.453765	0.04540	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76316	-0.36;-1.01	4.37	1.16	0.20824	.	1.375830	0.04225	N	0.334160	T	0.62636	0.2444	N	0.20986	0.625	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.45220	-0.9276	10	0.31617	T	0.26	-5.0404	1.8949	0.03255	0.1975:0.1081:0.4473:0.247	.	760	Q8TE82	S3TC1_HUMAN	I	498;760;684;589	ENSP00000245105:S760I;ENSP00000441045:S684I	ENSP00000245105:S760I	S	+	2	0	SH3TC1	8280600	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	0.102000	0.15272	0.302000	0.22762	0.462000	0.41574	AGC		0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		64	274	1	0	7.41606e-26	1	8.52628e-26	64	274				
NCAM1	4684	broad.mit.edu	37	11	113102908	113102908	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113102908G>T	ENST00000533760.1	+	10	1472	c.873G>T	c.(871-873)caG>caT	p.Q291H	NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000316851.7_Missense_Mutation_p.Q409H|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	419	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAAAGCTACAGGGCCCTGTGG	0.537																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1225-1227)caG>caT		neural cell adhesion molecule 1							45.0	47.0	47.0					11																	113102908		1931	4146	6077	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102908G>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.873G>T	11.37:g.113102908G>T	ENSP00000473281:p.Gln291His					NCAM1_ENST00000533760.1_Missense_Mutation_p.Q291H|NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000397957.4_3'UTR	p.Q409H	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	10	1227	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	419			Ig-like C2-type 4.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1227G>T		.	.	.	.	.	.	.	.	.	.	G	9.298	1.052332	0.19827	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68903	-0.36;-0.16	5.51	1.58	0.23477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245525	0.33712	U	0.004635	T	0.53948	0.1828	.	.	.	0.80722	D	1	B;B;B;B	0.20887	0.049;0.007;0.005;0.002	B;B;B;B	0.13407	0.007;0.004;0.007;0.009	T	0.45716	-0.9242	9	0.49607	T	0.09	-28.7809	8.8057	0.34936	0.3503:0.0:0.6497:0.0	.	419;409;419;409	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	H	291;418;409	ENSP00000384055:Q418H;ENSP00000318472:Q409H	ENSP00000318472:Q409H	Q	+	3	2	NCAM1	112608118	1.000000	0.71417	0.999000	0.59377	0.569000	0.35902	2.707000	0.47143	0.111000	0.17947	-0.384000	0.06662	CAG		0.537	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		18	137	1	0	3.32936e-07	1	3.45006e-07	18	137				
DSC3	1825	broad.mit.edu	37	18	28588089	28588089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28588089G>A	ENST00000360428.4	-	11	1636	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	DSC3_ENST00000434452.1_Missense_Mutation_p.T519I	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	519	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCATCAATGGTGATCCAACC	0.313																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1555-1557)aCc>aTc		desmocollin 3							36.0	34.0	34.0					18																	28588089		2203	4295	6498	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28588089G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1556C>T	18.37:g.28588089G>A	ENSP00000353608:p.Thr519Ile					DSC3_ENST00000360428.4_Missense_Mutation_p.T519I	p.T519I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		11	1710	-			519			Cadherin 4.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1556C>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455834	0.26161	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54675	0.56;0.56	5.08	-1.53	0.08611	Cadherin (4);Cadherin-like (1);	0.782790	0.10416	N	0.677346	T	0.57592	0.2064	M	0.79123	2.44	0.24325	N	0.995025	B;B	0.29716	0.255;0.203	B;B	0.39935	0.314;0.135	T	0.58504	-0.7625	10	0.46703	T	0.11	.	10.5402	0.45029	0.0:0.4184:0.1923:0.3893	.	519;519	Q14574;Q14574-2	DSC3_HUMAN;.	I	519	ENSP00000353608:T519I;ENSP00000392068:T519I	ENSP00000353608:T519I	T	-	2	0	DSC3	26842087	0.041000	0.20044	0.411000	0.26484	0.703000	0.40648	-0.030000	0.12308	-0.418000	0.07450	-0.175000	0.13238	ACC		0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		22	75	0	0	0	1	0	22	75				
IARS	3376	broad.mit.edu	37	9	95032245	95032245	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95032245T>C	ENST00000375643.3	-	13	1492	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.Y409C|IARS_ENST00000447699.2_Missense_Mutation_p.Y299C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	409					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CACTGCTTTGTAAATTAGAGG	0.478																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1225-1227)tAc>tGc		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						120.0	105.0	110.0					9																	95032245		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95032245T>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1226A>G	9.37:g.95032245T>C	ENSP00000364794:p.Tyr409Cys					IARS_ENST00000447699.2_Missense_Mutation_p.Y299C|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.Y409C	p.Y409C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			13	1492	-			409					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.1226A>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413486	0.83449	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.39229	1.09;1.09;1.09	5.61	5.61	0.85477	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89308	0.3631	10	0.87932	D	0	-14.5538	14.789	0.69824	0.0:0.0:0.0:1.0	.	409;254	P41252;Q6P0M4	SYIC_HUMAN;.	C	409;409;299;409	ENSP00000364794:Y409C;ENSP00000406448:Y409C;ENSP00000415020:Y299C	ENSP00000364794:Y409C	Y	-	2	0	IARS	94072066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.648000	0.83479	2.143000	0.66587	0.533000	0.62120	TAC		0.478	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		39	194	0	0	0	1	0	39	194				
MYT1L	23040	broad.mit.edu	37	2	1796203	1796203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1796203C>T	ENST00000399161.2	-	24	4057	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E1102K|MYT1L_ENST00000407844.1_Missense_Mutation_p.E102K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1104					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTCCTCTTCGATGGTCTTC	0.552																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3310-3312)Gaa>Aaa		myelin transcription factor 1-like							130.0	129.0	129.0					2																	1796203		2071	4221	6292	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1796203C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3310G>A	2.37:g.1796203C>T	ENSP00000382114:p.Glu1104Lys					MYT1L_ENST00000407844.1_Missense_Mutation_p.E102K|MYT1L_ENST00000428368.2_Missense_Mutation_p.E1102K	p.E1104K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	24	4057	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1104					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3310G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.553889	0.96501	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.56611	0.45;1.98;0.45	5.5	5.5	0.81552	.	0.044994	0.85682	D	0.000000	T	0.68952	0.3057	M	0.72894	2.215	0.80722	D	1	D;D;D	0.71674	0.972;0.997;0.998	B;P;P	0.57548	0.367;0.67;0.823	T	0.70828	-0.4766	10	0.54805	T	0.06	-36.3414	19.3812	0.94536	0.0:1.0:0.0:0.0	.	102;1104;1102	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	K	1104;1050;102;158;1102	ENSP00000382114:E1104K;ENSP00000382111:E158K;ENSP00000396103:E1102K	ENSP00000295067:E1050K	E	-	1	0	MYT1L	1775210	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.977000	0.70492	2.572000	0.86782	0.655000	0.94253	GAA		0.552	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		5	128	0	0	0	1	0	5	128				
DGKG	1608	broad.mit.edu	37	3	185993442	185993442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185993442C>T	ENST00000265022.3	-	10	1343	c.804G>A	c.(802-804)ggG>ggA	p.G268G	DGKG_ENST00000382164.4_Silent_p.G268G|DGKG_ENST00000344484.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	268					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCGCCCATCCCCCTTGGAGC	0.577																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(802-804)ggG>ggA		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						50.0	48.0	49.0					3																	185993442		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185993442C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.804G>A	3.37:g.185993442C>T						DGKG_ENST00000382164.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G|DGKG_ENST00000344484.4_Silent_p.G268G	p.G268G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	10	1343	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		268					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.804G>A	CCDS3274.1																																																																																				0.577	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			6	220	0	0	0	1	0	6	220				
ATAT1	79969	broad.mit.edu	37	6	30610736	30610736	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30610736C>A	ENST00000376485.4	+	10	946	c.916C>A	c.(916-918)Ctt>Att	p.L306I	ATAT1_ENST00000329992.8_Missense_Mutation_p.L306I|ATAT1_ENST00000330083.5_Missense_Mutation_p.L294I|ATAT1_ENST00000376483.4_Missense_Mutation_p.L306I|ATAT1_ENST00000319027.5_Missense_Mutation_p.L283I|ATAT1_ENST00000318999.7_Missense_Mutation_p.L283I|ATAT1_ENST00000376478.2_Missense_Mutation_p.L283I|ATAT1_ENST00000468713.1_Intron					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TACCGCCCGCCTTCTGTTGGC	0.617																																						ENST00000376483.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(916-918)Ctt>Att		alpha tubulin acetyltransferase 1							77.0	73.0	74.0					6																	30610736		2203	4300	6503	SO:0001583	missense	79969						tubulin N-acetyltransferase activity	g.chr6:30610736C>A	AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"""alpha-tubulin N-acetyltransferase"""	615556	"""chromosome 6 open reading frame 134"""	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.916C>A	6.37:g.30610736C>A	ENSP00000365668:p.Leu306Ile					ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376478.2_Missense_Mutation_p.L283I|ATAT1_ENST00000330083.5_Missense_Mutation_p.L294I|ATAT1_ENST00000376485.4_Missense_Mutation_p.L306I|ATAT1_ENST00000319027.5_Missense_Mutation_p.L283I|ATAT1_ENST00000318999.7_Missense_Mutation_p.L283I|ATAT1_ENST00000329992.8_Missense_Mutation_p.L306I	p.L306I			Q5SQI0	ATAT_HUMAN			10	926	+			306						Missense_Mutation	SNP	ENST00000376485.4	37	c.916C>A		.	.	.	.	.	.	.	.	.	.	c	16.51	3.142350	0.57044	.	.	ENSG00000137343	ENST00000318999;ENST00000376485;ENST00000376478;ENST00000319027;ENST00000376483;ENST00000329992;ENST00000330083	.	.	.	5.02	5.02	0.67125	.	0.232990	0.30051	N	0.010524	T	0.45074	0.1324	L	0.43152	1.355	0.28509	N	0.913627	D;B;B;B;D;D	0.76494	0.999;0.069;0.072;0.019;0.988;0.995	P;B;B;B;P;P	0.59115	0.832;0.043;0.031;0.017;0.782;0.852	T	0.33266	-0.9875	9	0.45353	T	0.12	-13.5765	15.6136	0.76748	0.0:1.0:0.0:0.0	.	271;283;294;306;283;306	B7Z4Q7;Q5SQI0-3;Q5SQI0-2;Q5SQI0;Q5SQI0-6;Q5SQI0-4	.;.;.;ATAT_HUMAN;.;.	I	283;306;283;283;306;306;294	.	ENSP00000324222:L283I	L	+	1	0	ATAT1	30718715	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.993000	0.56987	2.492000	0.84095	0.506000	0.49869	CTT		0.617	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		11	742	1	0	0.0931896	1	0.0933712	11	742				
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1372-1374)atC>atT		topoisomerase (DNA) III alpha							128.0	120.0	123.0					17																	18194249		2203	4300	6503	SO:0001819	synonymous_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18194249G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1374C>T	17.37:g.18194249G>A						TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	p.I458I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			12	1588	-			458					A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	c.1374C>T	CCDS11194.1																																																																																				0.512	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			58	275	0	0	0	1	0	58	275				
LOC101927905	101927905	broad.mit.edu	37	12	8387040	8387040	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8387040G>A	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							AAAGCTTCAGGTTACTGAAAG	0.577																																						ENST00000427893.2																			0																																																			0							g.chr12:8387040G>A																													12.37:g.8387040G>A														0	745	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.577	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			24	117	0	0	0	1	0	24	117				
KIF18B	146909	broad.mit.edu	37	17	43013546	43013546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013546C>T	ENST00000593135.1	-	2	264	c.167G>A	c.(166-168)gGc>gAc	p.G56D	KIF18B_ENST00000587309.1_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D|KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D|KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	65	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCATGGGTGCCACCCCATTT	0.617																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(166-168)gGc>gAc		kinesin family member 18B							25.0	29.0	28.0					17																	43013546		2018	4170	6188	SO:0001583	missense	146909							g.chr17:43013546C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.167G>A	17.37:g.43013546C>T	ENSP00000465992:p.Gly56Asp					KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D|KIF18B_ENST00000593135.1_Missense_Mutation_p.G56D|KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D	p.G56D	NM_001264573.1	NP_001251503.1					2	190	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.167G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105267	0.20632	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74737	-0.87;-0.87	5.46	4.48	0.54585	Kinesin, motor domain (4);	0.883608	0.09370	N	0.811513	T	0.63815	0.2543	L	0.39514	1.22	0.09310	N	1	B;B;B	0.27013	0.166;0.137;0.137	B;B;B	0.29440	0.102;0.062;0.062	T	0.51608	-0.8684	10	0.12430	T	0.62	.	7.3631	0.26758	0.1691:0.7461:0.0:0.0847	.	65;65;65	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	D	56	ENSP00000412798:G56D;ENSP00000341466:G56D	ENSP00000341466:G56D	G	-	2	0	KIF18B	40369072	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.144000	0.10280	1.428000	0.47296	0.555000	0.69702	GGC		0.617	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		25	98	0	0	0	1	0	25	98				
ZAR1	326340	broad.mit.edu	37	4	48496233	48496233	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48496233G>T	ENST00000327939.4	+	4	1287	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	416					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						TCCTGTGACAGCACTTTCAGC	0.512																																						ENST00000327939.4																			0				endometrium(1)|large_intestine(4)	5						c.(1246-1248)aGc>aTc		zygote arrest 1							99.0	100.0	100.0					4																	48496233		2203	4300	6503	SO:0001583	missense	326340				multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	g.chr4:48496233G>T	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1247G>T	4.37:g.48496233G>T	ENSP00000329803:p.Ser416Ile						p.S416I	NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN			4	1287	+			416						Missense_Mutation	SNP	ENST00000327939.4	37	c.1247G>T	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211478	0.58343	.	.	ENSG00000182223	ENST00000327939	.	.	.	5.97	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	L	0.36672	1.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.71490	-0.4577	9	0.87932	D	0	-28.6385	15.234	0.73413	0.0672:0.0:0.9328:0.0	.	416	Q86SH2	ZAR1_HUMAN	I	416	.	ENSP00000329803:S416I	S	+	2	0	ZAR1	48190990	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	6.328000	0.72915	1.542000	0.49330	-0.140000	0.14226	AGC		0.512	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			40	344	1	0	1.30091e-30	1	1.52718e-30	40	344				
SRRM2	23524	broad.mit.edu	37	16	2812267	2812267	+	Missense_Mutation	SNP	C	C	T	rs146283035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812267C>T	ENST00000301740.8	+	11	2287	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	580	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AACACCAGCCCGCCGGGGCAG	0.612																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1738-1740)Cgc>Tgc		serine/arginine repetitive matrix 2		C	CYS/ARG	0,4396		0,0,2198	33.0	39.0	37.0		1738	-0.7	0.3	16	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRRM2	NM_016333.3	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	580/2753	2812267	1,12995	2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812267C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1738C>T	16.37:g.2812267C>T	ENSP00000301740:p.Arg580Cys						p.R580C	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2287	+			580			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1738C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807616	0.31961	0.0	1.16E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29397	1.57	5.91	-0.722	0.11184	.	0.000000	0.56097	D	0.000033	T	0.39332	0.1074	L	0.27053	0.805	0.22171	N	0.999313	D	0.89917	1.0	D	0.80764	0.994	T	0.46048	-0.9219	10	0.87932	D	0	-8.7656	15.3162	0.74081	0.6804:0.3196:0.0:0.0	.	580	Q9UQ35	SRRM2_HUMAN	C	580;580;545	ENSP00000301740:R580C	ENSP00000301740:R580C	R	+	1	0	SRRM2	2752268	0.020000	0.18652	0.280000	0.24747	0.992000	0.81027	0.103000	0.15292	-0.044000	0.13491	0.655000	0.94253	CGC		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			13	209	0	0	0	1	0	13	209				
PKNOX2	63876	broad.mit.edu	37	11	125301267	125301267	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125301267A>G	ENST00000298282.9	+	13	1669	c.1398A>G	c.(1396-1398)gaA>gaG	p.E466E	PKNOX2_ENST00000542175.1_Silent_p.E402E|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	466					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGGCTTGGAACACAGTGACT	0.607																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1396-1398)gaA>gaG		PBX/knotted 1 homeobox 2							51.0	58.0	56.0					11																	125301267		2152	4240	6392	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301267A>G	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1398A>G	11.37:g.125301267A>G						PKNOX2_ENST00000542175.1_Silent_p.E402E|PKNOX2_ENST00000530517.1_3'UTR	p.E466E	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1669	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	466					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.1398A>G	CCDS41730.1																																																																																				0.607	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			4	168	0	0	0	1	0	4	168				
PEX1	5189	broad.mit.edu	37	7	92122335	92122335	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92122335G>A	ENST00000248633.4	-	20	3234	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Silent_p.L725L|PEX1_ENST00000428214.1_Silent_p.L990L|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1047					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAGCTTTCAGATCAGCTCCA	0.423																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3139-3141)Ctg>Ttg		peroxisomal biogenesis factor 1							137.0	132.0	134.0					7																	92122335		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92122335G>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3139C>T	7.37:g.92122335G>A						PEX1_ENST00000438045.1_Silent_p.L725L|PEX1_ENST00000428214.1_Silent_p.L990L	p.L1047L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		20	3234	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1047					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.3139C>T	CCDS5627.1																																																																																				0.423	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		124	418	0	0	0	1	0	124	418				
ARMC9	80210	broad.mit.edu	37	2	232104717	232104717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232104717G>A	ENST00000349938.4	+	9	1036	c.842G>A	c.(841-843)aGc>aAc	p.S281N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	281						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATGCGGCAGAGCCTGGCGCAT	0.557																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(841-843)aGc>aAc		armadillo repeat containing 9							78.0	61.0	67.0					2																	232104717		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232104717G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.842G>A	2.37:g.232104717G>A	ENSP00000258417:p.Ser281Asn					ARMC9_ENST00000483477.1_3'UTR	p.S281N	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	9	1036	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	281					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.842G>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338376	0.60963	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T	0.19806	2.12	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.45581	1.43	0.47862	D	0.999537	P	0.49090	0.919	P	0.48704	0.587	T	0.01238	-1.1409	10	0.25106	T	0.35	-6.727	13.8461	0.63468	0.0:0.1525:0.8475:0.0	.	281	Q7Z3E5	ARMC9_HUMAN	N	281;281;35	ENSP00000258417:S281N	ENSP00000258417:S281N	S	+	2	0	ARMC9	231812961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.563000	0.60823	2.309000	0.77851	0.561000	0.74099	AGC		0.557	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		5	141	0	0	0	1	0	5	141				
PRDM5	11107	broad.mit.edu	37	4	121702402	121702402	+	Silent	SNP	A	A	G	rs193201534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702402A>G	ENST00000264808.3	-	12	1579	c.1339T>C	c.(1339-1341)Tta>Cta	p.L447L	PRDM5_ENST00000428209.2_Silent_p.L416L|PRDM5_ENST00000515109.1_Silent_p.L416L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	447					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACATTTAATGTATCCTTC	0.398																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1339-1341)Tta>Cta		PR domain containing 5							148.0	119.0	129.0					4																	121702402		2203	4300	6503	SO:0001819	synonymous_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121702402A>G	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1339T>C	4.37:g.121702402A>G						PRDM5_ENST00000428209.2_Silent_p.L416L|PRDM5_ENST00000515109.1_Silent_p.L416L	p.L447L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			12	1579	-			447					Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	c.1339T>C	CCDS3716.1																																																																																				0.398	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			44	254	0	0	0	1	0	44	254				
AZGP1	563	broad.mit.edu	37	7	99564826	99564826	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99564826C>A	ENST00000292401.4	-	4	833	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	233	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAATTTTCCCTGGGTAGAAG	0.557																																						ENST00000292401.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(697-699)Ggg>Tgg		alpha-2-glycoprotein 1, zinc-binding							38.0	37.0	37.0					7																	99564826		2203	4295	6498	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564826C>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.697G>T	7.37:g.99564826C>A	ENSP00000292401:p.Gly233Trp					AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	p.G233W	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN			4	833	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		233			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.697G>T	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017950	0.07681	.	.	ENSG00000160862	ENST00000292401;ENST00000419575	T	0.14766	2.48	2.34	0.137	0.14787	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.824850	0.03891	U	0.278723	T	0.30634	0.0771	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	D	0.67382	0.951	T	0.12016	-1.0564	10	0.87932	D	0	.	5.775	0.18273	0.0:0.4082:0.395:0.1968	.	233	P25311	ZA2G_HUMAN	W	233;83	ENSP00000292401:G233W	ENSP00000292401:G233W	G	-	1	0	AZGP1	99402762	0.000000	0.05858	0.080000	0.20451	0.126000	0.20510	-0.163000	0.09997	-0.146000	0.11274	-0.802000	0.03209	GGG		0.557	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		25	154	1	0	4.72057e-08	1	4.92026e-08	25	154				
ZNF833P	401898	broad.mit.edu	37	19	11795746	11795746	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11795746C>T	ENST00000344893.3	+	0	1745					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GTGAAGAGATCTTCAGCCTTG	0.393																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5																																														0							g.chr19:11795746C>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11795746C>T								NR_028594.1						0	1745	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.393	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		7	34	0	0	0	1	0	7	34				
ATP2B1	490	broad.mit.edu	37	12	90024380	90024380	+	Missense_Mutation	SNP	G	G	A	rs543717834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024380G>A	ENST00000428670.3	-	6	1286	c.830C>T	c.(829-831)gCt>gTt	p.A277V	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	277					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TACACCTACAGCTGTAACTAC	0.363																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(829-831)gCt>gTt		ATPase, Ca++ transporting, plasma membrane 1							94.0	87.0	89.0					12																	90024380		2203	4297	6500	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90024380G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.830C>T	12.37:g.90024380G>A	ENSP00000392043:p.Ala277Val					ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V	p.A277V			P20020	AT2B1_HUMAN			6	1286	-			277					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.830C>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455931	0.96223	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99	5.48	5.48	0.80851	.	0.104870	0.64402	D	0.000003	D	0.97034	0.9031	M	0.91717	3.235	0.80722	D	1	D;D	0.71674	0.998;0.987	D;D	0.80764	0.994;0.948	D	0.97468	1.0039	9	.	.	.	-21.5485	19.35	0.94379	0.0:0.0:1.0:0.0	.	277;277	P20020-3;P20020-2	.;.	V	277;277;277;277;20	ENSP00000261173:A277V;ENSP00000343599:A277V;ENSP00000352054:A277V;ENSP00000392043:A277V;ENSP00000376869:A20V	.	A	-	2	0	ATP2B1	88548511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.799000	0.99117	2.574000	0.86865	0.650000	0.86243	GCT		0.363	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		35	232	0	0	0	1	0	35	232				
SECISBP2L	9728	broad.mit.edu	37	15	49288703	49288703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49288703C>A	ENST00000559471.1	-	17	2747	c.2484G>T	c.(2482-2484)gaG>gaT	p.E828D	Y_RNA_ENST00000384377.1_RNA|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	828							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTCAGCCTGCTCCTGTTCCA	0.428																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2482-2484)gaG>gaT		SECIS binding protein 2-like							261.0	241.0	247.0					15																	49288703		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49288703C>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2484G>T	15.37:g.49288703C>A	ENSP00000453854:p.Glu828Asp					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D	p.E828D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			17	2747	-			828					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2484G>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820874	0.71028	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.92545	-3.06	4.94	0.893	0.19236	.	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	L	0.29908	0.895	0.39808	D	0.972668	D;D	0.71674	0.996;0.998	P;D	0.63488	0.824;0.915	D	0.89300	0.3625	10	0.72032	D	0.01	.	9.1906	0.37197	0.0:0.5318:0.0:0.4682	.	828;783	Q93073;Q93073-2	SBP2L_HUMAN;.	D	783;828	ENSP00000261847:E783D	ENSP00000261847:E783D	E	-	3	2	SECISBP2L	47075995	0.989000	0.36119	0.999000	0.59377	0.992000	0.81027	0.302000	0.19192	0.288000	0.22398	0.650000	0.86243	GAG		0.428	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		29	1167	1	0	7.88262e-20	1	8.81088e-20	29	1167				
TMTC1	83857	broad.mit.edu	37	12	29673629	29673629	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673629T>C	ENST00000539277.1	-	12	1868	c.1810A>G	c.(1810-1812)Ata>Gta	p.I604V	TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000256062.5_Missense_Mutation_p.I496V|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	604						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTGGTATATTTCTTCAGCT	0.333																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1486-1488)Ata>Gta		transmembrane and tetratricopeptide repeat containing 1							123.0	111.0	115.0					12																	29673629		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29673629T>C		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1810A>G	12.37:g.29673629T>C	ENSP00000442046:p.Ile604Val					RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000539277.1_Missense_Mutation_p.I604V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000319685.8_5'UTR	p.I496V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			12	1959	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		604					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1486A>G	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	T	0.309	-0.969137	0.02232	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.62639	0.01;0.01;0.28;0.01	5.14	1.02	0.19986	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.421087	0.25854	N	0.027877	T	0.31420	0.0796	N	0.04297	-0.235	0.21064	N	0.999796	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15578	-1.0432	9	.	.	.	-5.6208	6.5409	0.22380	0.0:0.4529:0.0:0.5471	.	604;666	Q8IUR5;F8VTQ9	TMTC1_HUMAN;.	V	367;496;666;628;604	ENSP00000256062:I496V;ENSP00000448112:I666V;ENSP00000449043:I628V;ENSP00000442046:I604V	.	I	-	1	0	TMTC1	29564896	0.125000	0.22332	0.036000	0.18154	0.953000	0.61014	0.436000	0.21526	0.355000	0.24131	0.533000	0.62120	ATA		0.333	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		64	252	0	0	0	1	0	64	252				
TNS3	64759	broad.mit.edu	37	7	47384365	47384365	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47384365T>G	ENST00000398879.1	-	20	3004	c.2638A>C	c.(2638-2640)Aaa>Caa	p.K880Q	TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q|TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q			Q68CZ2	TENS3_HUMAN	tensin 3	880					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGTCCTCCTTTGTGCTGACTG	0.602																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2638-2640)Aaa>Caa		tensin 3							45.0	52.0	50.0					7																	47384365		1937	4144	6081	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47384365T>G	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2638A>C	7.37:g.47384365T>G	ENSP00000381854:p.Lys880Gln					TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q|TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q	p.K880Q			Q68CZ2	TENS3_HUMAN			20	3004	-			880					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2638A>C	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	7.677	0.688120	0.14973	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94232	-2.93;-2.93;-3.38;-3.06	5.55	3.05	0.35203	.	1.937310	0.01889	N	0.038421	D	0.88288	0.6396	L	0.27053	0.805	0.18873	N	0.999984	B	0.30482	0.281	B	0.24701	0.055	T	0.75190	-0.3405	10	0.14252	T	0.57	-2.8134	9.618	0.39704	0.0:0.0:0.3427:0.6573	.	880	Q68CZ2	TENS3_HUMAN	Q	880;990;880;640;336;983	ENSP00000312143:K880Q;ENSP00000381854:K880Q;ENSP00000347968:K640Q;ENSP00000414358:K983Q	ENSP00000312143:K880Q	K	-	1	0	TNS3	47350890	0.292000	0.24362	0.005000	0.12908	0.488000	0.33401	1.377000	0.34317	0.335000	0.23614	0.379000	0.24179	AAA		0.602	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		72	283	0	0	0	1	0	72	283				
CYR61	3491	broad.mit.edu	37	1	86047131	86047131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047131C>T	ENST00000451137.2	+	2	371	c.147C>T	c.(145-147)ggC>ggT	p.G49G	RP11-290M5.4_ENST00000609367.1_lincRNA|CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	49	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCGGGACGGCTGCGGCTGCT	0.687											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(145-147)ggC>ggT		cysteine-rich, angiogenic inducer, 61							14.0	16.0	16.0					1																	86047131		2201	4297	6498	SO:0001819	synonymous_variant	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86047131C>T	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.147C>T	1.37:g.86047131C>T			OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_ENST00000480413.1_3'UTR	p.G49G	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	2	371	+			49			IGFBP N-terminal.		O14934|O43775|Q9BZL7	Silent	SNP	ENST00000451137.2	37	c.147C>T	CCDS706.1																																																																																				0.687	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		7	82	0	0	0	1	0	7	82				
TET3	200424	broad.mit.edu	37	2	74274777	74274777	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74274777A>T	ENST00000409262.3	+	1	1328	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	443					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAAGGAGAAGAAGAAGAAG	0.592																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1327-1329)aAg>aTg		tet methylcytosine dioxygenase 3							32.0	39.0	37.0					2																	74274777		1941	4123	6064	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274777A>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1328A>T	2.37:g.74274777A>T	ENSP00000386869:p.Lys443Met						p.K443M	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1328	+			443					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.1328A>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826483	0.50739	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.27890	1.64;2.52	5.55	5.55	0.83447	.	.	.	.	.	T	0.33876	0.0878	L	0.29908	0.895	0.30441	N	0.776174	D	0.62365	0.991	P	0.54270	0.747	T	0.28996	-1.0026	9	0.59425	D	0.04	.	9.2408	0.37495	0.9181:0.0:0.0819:0.0	.	443	O43151	TET3_HUMAN	M	485;443;443	ENSP00000307803:K485M;ENSP00000386869:K443M	ENSP00000233310:K443M	K	+	2	0	TET3	74128285	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.545000	0.53648	2.115000	0.64714	0.482000	0.46254	AAG		0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	133	0	0	0	1	0	11	133				
MAGIX	79917	broad.mit.edu	37	X	49019191	49019191	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49019191G>A	ENST00000412696.2	+	0	0				MAGIX_ENST00000376338.3_5'Flank|MAGIX_ENST00000376339.1_De_novo_Start_OutOfFrame|MAGIX_ENST00000425661.2_De_novo_Start_InFrame	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked																		AAAACTCGTCGCTGGCTGCCC	0.682																																						ENST00000376339.1																			0													MAGI family member, X-linked							9.0	11.0	10.0					X																	49019191		1922	4080	6002	SO:0001631	upstream_gene_variant	79917							g.chrX:49019191G>A	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218		X.37:g.49019191G>A	Exception_encountered					MAGIX_ENST00000425661.2_De_novo_Start_InFrame				Q9H6Y5	MAGIX_HUMAN			0	131	+								A6XND4|A8MSX9|B7WP26|Q14C81	Translation_Start_Site	SNP	ENST00000412696.2	37		CCDS48106.1																																																																																				0.682	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		10	28	0	0	0	1	0	10	28				
PPP2R5B	5526	broad.mit.edu	37	11	64695588	64695588	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64695588C>A	ENST00000164133.2	+	5	1171	c.549C>A	c.(547-549)ccC>ccA	p.P183P		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	183					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ACTTCCAGCCCTCCGTGGCCA	0.557																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(547-549)ccC>ccA		protein phosphatase 2, regulatory subunit B', beta							144.0	134.0	138.0					11																	64695588		2201	4297	6498	SO:0001819	synonymous_variant	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64695588C>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.549C>A	11.37:g.64695588C>A							p.P183P	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			5	1171	+			183					Q13853	Silent	SNP	ENST00000164133.2	37	c.549C>A	CCDS8085.1																																																																																				0.557	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		85	438	1	0	8.34767e-46	1	1.02437e-45	85	438				
FBLN7	129804	broad.mit.edu	37	2	112944947	112944947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112944947A>G	ENST00000331203.2	+	8	1455	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G|FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	395					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGACTGGGGATCTGATCCTT	0.647																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1183-1185)gAt>gGt		fibulin 7							97.0	96.0	96.0					2																	112944947		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944947A>G		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1184A>G	2.37:g.112944947A>G	ENSP00000331411:p.Asp395Gly					FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G	p.D395G	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			8	1455	+			395					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.1184A>G	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265622	0.40095	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	N	0.08118	0	0.27037	N	0.964119	B;B;B	0.24368	0.001;0.001;0.102	B;B;B	0.20577	0.005;0.007;0.03	T	0.12451	-1.0547	10	0.31617	T	0.26	-26.3332	15.451	0.75274	1.0:0.0:0.0:0.0	.	261;349;395	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	G	395;261;349;217	ENSP00000331411:D395G;ENSP00000386822:D261G;ENSP00000387000:D349G;ENSP00000272559:D217G	ENSP00000272559:D217G	D	+	2	0	FBLN7	112661418	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	8.861000	0.92277	2.056000	0.61249	0.454000	0.30748	GAT		0.647	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		158	556	0	0	0	1	0	158	556				
FRMD5	84978	broad.mit.edu	37	15	44216429	44216429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44216429G>A	ENST00000417257.1	-	2	357	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FRMD5_ENST00000402883.1_Missense_Mutation_p.R61C|FRMD5_ENST00000484674.1_5'UTR	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	61	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCTACAAAGCGGATACCAAAA	0.428																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(181-183)Cgc>Tgc		FERM domain containing 5							178.0	169.0	172.0					15																	44216429		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44216429G>A	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.181C>T	15.37:g.44216429G>A	ENSP00000403067:p.Arg61Cys					FRMD5_ENST00000402883.1_Missense_Mutation_p.R61C|FRMD5_ENST00000484674.1_5'UTR	p.R61C	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	2	357	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	61			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.181C>T	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430422	0.83776	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	T;T;T	0.77620	-1.11;-1.11;-1.11	5.46	5.46	0.80206	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88666	0.3192	10	0.59425	D	0.04	.	16.8041	0.85621	0.0:0.0:1.0:0.0	.	61	Q7Z6J6	FRMD5_HUMAN	C	61;61;27	ENSP00000403067:R61C;ENSP00000384142:R61C;ENSP00000399684:R27C	ENSP00000384142:R61C	R	-	1	0	FRMD5	42003721	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.545000	0.60698	2.572000	0.86782	0.467000	0.42956	CGC		0.428	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		130	591	0	0	0	1	0	130	591				
C2orf50	130813	broad.mit.edu	37	2	11273597	11273597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11273597G>A	ENST00000381585.3	+	1	419	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	AC062028.1_ENST00000396164.1_lincRNA|C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	46										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GCTGGTGGCTGCCAGGCCCCC	0.711																																						ENST00000381585.3																			0				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(136-138)tGc>tAc		chromosome 2 open reading frame 50							12.0	16.0	15.0					2																	11273597		2190	4280	6470	SO:0001583	missense	130813							g.chr2:11273597G>A	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.137G>A	2.37:g.11273597G>A	ENSP00000370997:p.Cys46Tyr					C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y	p.C46Y			Q96LR7	CB050_HUMAN		Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)	1	419	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		46					A8K9W3|D6W503	Missense_Mutation	SNP	ENST00000381585.3	37	c.137G>A	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	G	9.229	1.035269	0.19590	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	3.35	-0.0478	0.13841	.	0.865809	0.09677	N	0.770278	T	0.26991	0.0661	N	0.22421	0.69	0.09310	N	1	B	0.33288	0.406	B	0.31245	0.126	T	0.15780	-1.0425	9	0.24483	T	0.36	5.7794	11.1446	0.48424	0.0:0.5472:0.4528:0.0	.	46	Q96LR7	CB050_HUMAN	Y	46	.	ENSP00000370997:C46Y	C	+	2	0	C2orf50	11191048	0.000000	0.05858	0.003000	0.11579	0.111000	0.19643	-0.850000	0.04317	-0.026000	0.13895	0.472000	0.43445	TGC		0.711	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	NM_182500		33	106	0	0	0	1	0	33	106				
HS2ST1	9653	broad.mit.edu	37	1	87549948	87549948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87549948C>A	ENST00000370550.5	+	3	798	c.435C>A	c.(433-435)taC>taA	p.Y145*	HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*|HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*|RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	145					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACGTTTCTTACTTGGATTTTG	0.313																																						ENST00000370550.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9						c.(433-435)taC>taA		heparan sulfate 2-O-sulfotransferase 1							100.0	102.0	101.0					1																	87549948		2203	4299	6502	SO:0001587	stop_gained	9653					Golgi membrane|integral to membrane		g.chr1:87549948C>A	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.435C>A	1.37:g.87549948C>A	ENSP00000359581:p.Tyr145*					HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*|RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*	p.Y145*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	3	798	+		Lung NSC(277;0.153)	145					D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Nonsense_Mutation	SNP	ENST00000370550.5	37	c.435C>A	CCDS711.1	.	.	.	.	.	.	.	.	.	.	C	38	6.658635	0.97739	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.81	-0.175	0.13315	.	0.114120	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-23.0488	12.1377	0.53981	0.0:0.5105:0.0:0.4895	.	.	.	.	X	145;145;119;119	.	ENSP00000349268:Y119X	Y	+	3	2	HS2ST1	87322536	0.825000	0.29262	0.998000	0.56505	0.998000	0.95712	-0.071000	0.11505	0.051000	0.15978	0.637000	0.83480	TAC		0.313	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		63	220	1	0	6.88731e-43	1	8.39682e-43	63	220				
ITPKB	3707	broad.mit.edu	37	1	226834905	226834905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226834905C>T	ENST00000272117.3	-	3	2208	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	ITPKB_ENST00000429204.1_Missense_Mutation_p.D737N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	737					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGGCGAGTCGAAGTCGGCC	0.607																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2209-2211)Gac>Aac		inositol-trisphosphate 3-kinase B							177.0	122.0	141.0					1																	226834905		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226834905C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2209G>A	1.37:g.226834905C>T	ENSP00000272117:p.Asp737Asn					ITPKB_ENST00000272117.3_Missense_Mutation_p.D737N	p.D737N	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			4	2536	-		Prostate(94;0.0773)	737					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2209G>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802088	0.90538	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16597	2.33;2.33	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.71206	2.165	0.51767	D	0.999931	D	0.76494	0.999	D	0.66084	0.941	T	0.16394	-1.0404	10	0.48119	T	0.1	-13.0163	19.1764	0.93604	0.0:1.0:0.0:0.0	.	737	P27987	IP3KB_HUMAN	N	737	ENSP00000272117:D737N;ENSP00000411152:D737N	ENSP00000272117:D737N	D	-	1	0	ITPKB	224901528	1.000000	0.71417	0.961000	0.40146	0.986000	0.74619	5.847000	0.69451	2.540000	0.85666	0.655000	0.94253	GAC		0.607	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		28	361	0	0	0	1	0	28	361				
ATP6V0A2	23545	broad.mit.edu	37	12	124221607	124221607	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124221607T>C	ENST00000330342.3	+	9	1075	c.827T>C	c.(826-828)gTa>gCa	p.V276A		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	276					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTTCCCCAGGTACTGCACAAA	0.502																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.e9-1		ATPase, H+ transporting, lysosomal V0 subunit a2							116.0	96.0	103.0					12																	124221607		2203	4300	6503	SO:0001630	splice_region_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124221607T>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.826-1T>C	12.37:g.124221607T>C							p.V276_splice	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	9	1075	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		276					A8K026|Q6NUM0	Splice_Site	SNP	ENST00000330342.3	37	c.825_splice	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955480	0.73902	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87029	-2.2;-2.2	5.68	4.5	0.54988	.	0.104725	0.64402	D	0.000004	D	0.92476	0.7611	M	0.74546	2.27	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	D	0.92626	0.6112	10	0.87932	D	0	-33.8503	12.8333	0.57759	0.0:0.0:0.1364:0.8636	.	276;276	Q9Y487;Q8TBM3	VPP2_HUMAN;.	A	276;276;146	ENSP00000332247:V276A;ENSP00000443441:V146A	ENSP00000332247:V276A	V	+	2	0	ATP6V0A2	122787560	1.000000	0.71417	0.985000	0.45067	0.393000	0.30537	8.023000	0.88764	0.945000	0.37605	0.482000	0.46254	GTA		0.502	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463	Missense_Mutation	84	324	0	0	0	1	0	84	324				
KIAA1598	57698	broad.mit.edu	37	10	118671334	118671334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118671334G>A	ENST00000355371.4	-	14	1823	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	KIAA1598_ENST00000392903.2_Silent_p.C442C|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Silent_p.C442C|KIAA1598_ENST00000392901.4_Silent_p.C382C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	442					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTGCACTTTCGCAGCCTTTCG	0.299																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(1324-1326)tgC>tgT		KIAA1598							75.0	76.0	76.0					10																	118671334		2203	4298	6501	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118671334G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1326C>T	10.37:g.118671334G>A						KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Silent_p.C382C|KIAA1598_ENST00000392903.2_Silent_p.C442C|KIAA1598_ENST00000260777.10_Silent_p.C442C	p.C442C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	14	1823	-			442					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.1326C>T	CCDS44482.1																																																																																				0.299	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		51	238	0	0	0	1	0	51	238				
GNA14	9630	broad.mit.edu	37	9	80046298	80046298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80046298C>T	ENST00000341700.6	-	4	1045	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	178					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GGCACTCGGACGCGAAGCACA	0.488																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(532-534)Gtc>Atc		guanine nucleotide binding protein (G protein), alpha 14							204.0	165.0	178.0					9																	80046298		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80046298C>T	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.532G>A	9.37:g.80046298C>T	ENSP00000365807:p.Val178Ile					GNA14_ENST00000464095.1_5'UTR	p.V178I	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			4	1045	-			178					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.532G>A	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318927	0.81469	.	.	ENSG00000156049	ENST00000341700	D	0.88431	-2.38	5.42	4.5	0.54988	G protein alpha subunit, helical insertion (1);	0.056069	0.64402	D	0.000001	D	0.90813	0.7115	L	0.41906	1.305	0.54753	D	0.999987	P	0.42973	0.796	P	0.57425	0.82	D	0.91752	0.5413	10	0.87932	D	0	.	15.2135	0.73244	0.1421:0.8579:0.0:0.0	.	178	O95837	GNA14_HUMAN	I	178	ENSP00000365807:V178I	ENSP00000365807:V178I	V	-	1	0	GNA14	79236118	1.000000	0.71417	0.960000	0.40013	0.621000	0.37620	7.752000	0.85141	1.358000	0.45922	0.655000	0.94253	GTC		0.488	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			8	430	0	0	0	1	0	8	430				
EWSR1	2130	broad.mit.edu	37	22	29678381	29678381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29678381C>T	ENST00000397938.2	+	6	735	c.416C>T	c.(415-417)cCg>cTg	p.P139L	EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L|EWSR1_ENST00000333395.6_Missense_Mutation_p.P139L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	139	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCTTAGACCGCAGGATGGA	0.423			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(415-417)cCg>cTg		EWS RNA-binding protein 1							31.0	27.0	28.0					22																	29678381		2203	4299	6502	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29678381C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.416C>T	22.37:g.29678381C>T	ENSP00000381031:p.Pro139Leu					EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L|EWSR1_ENST00000333395.6_Missense_Mutation_p.P139L|EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L|EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L	p.P139L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			6	735	+			139			31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.416C>T	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351763	0.41700	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395	D;D;D;D;D	0.96967	-3.93;-3.46;-3.63;-4.19;-3.65	5.05	5.05	0.67936	.	0.225469	0.29253	U	0.012683	D	0.96676	0.8915	L	0.31065	0.9	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.913;0.996;0.913;0.96	D	0.97243	0.9892	10	0.52906	T	0.07	.	18.3604	0.90372	0.0:1.0:0.0:0.0	.	139;145;139;139	Q96FE8;Q96MX4;Q01844;Q9BWA2	.;.;EWS_HUMAN;.	L	139;139;146;145;139;140;64;139;145;139	ENSP00000330896:P139L;ENSP00000381031:P139L;ENSP00000385726:P139L;ENSP00000330516:P139L;ENSP00000400142:P145L	ENSP00000330516:P139L	P	+	2	0	EWSR1	28008381	1.000000	0.71417	0.969000	0.41365	0.242000	0.25591	5.583000	0.67484	2.490000	0.84030	0.557000	0.71058	CCG		0.423	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		11	73	0	0	0	1	0	11	73				
RPS6KA4	8986	broad.mit.edu	37	11	64137088	64137088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137088G>A	ENST00000334205.4	+	13	1664	c.1599G>A	c.(1597-1599)ccG>ccA	p.P533P	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000528057.1_Silent_p.P526P|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	533	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACCTCAAGCCGGAGGTGGGCG	0.711																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1576-1578)ccG>ccA		ribosomal protein S6 kinase, 90kDa, polypeptide 4							15.0	16.0	15.0					11																	64137088		2173	4247	6420	SO:0001819	synonymous_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64137088G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1599G>A	11.37:g.64137088G>A						RPS6KA4_ENST00000334205.4_Silent_p.P533P|RPS6KA4_ENST00000294261.4_Intron	p.P526P	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			13	1666	+			533			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	c.1578G>A	CCDS8073.1																																																																																				0.711	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		24	92	0	0	0	1	0	24	92				
MAP1B	4131	broad.mit.edu	37	5	71495820	71495820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495820G>A	ENST00000296755.7	+	5	6936	c.6638G>A	c.(6637-6639)cGc>cAc	p.R2213H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R2213H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTTCGCCACGCCACCCTGAT	0.537																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			1	Substitution - Missense(1)	p.R2213H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6637-6639)cGc>cAc		microtubule-associated protein 1B							121.0	113.0	115.0					5																	71495820		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495820G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6638G>A	5.37:g.71495820G>A	ENSP00000296755:p.Arg2213His						p.R2213H	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6936	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2213					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6638G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.471969	0.43942	.	.	ENSG00000131711	ENST00000296755	T	0.03386	3.95	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.15219	0.0367	L	0.51422	1.61	0.36631	D	0.876291	D;D	0.76494	0.998;0.999	D;P	0.70935	0.971;0.854	T	0.00500	-1.1703	10	0.44086	T	0.13	-11.5509	20.3539	0.98825	0.0:0.0:1.0:0.0	.	2087;2213	A2BDK6;P46821	.;MAP1B_HUMAN	H	2213	ENSP00000296755:R2213H	ENSP00000296755:R2213H	R	+	2	0	MAP1B	71531576	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.954000	0.63631	2.826000	0.97356	0.655000	0.94253	CGC		0.537	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		148	651	0	0	0	1	0	148	651				
TTC9B	148014	broad.mit.edu	37	19	40724059	40724059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40724059C>T	ENST00000311308.6	-	1	247	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	77					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTTCTTCTCTCGATAGCAGCG	0.736																																						ENST00000311308.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(229-231)cGa>cAa		tetratricopeptide repeat domain 9B							32.0	28.0	29.0					19																	40724059		2202	4298	6500	SO:0001583	missense	148014						binding	g.chr19:40724059C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.230G>A	19.37:g.40724059C>T	ENSP00000311760:p.Arg77Gln						p.R77Q	NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN			1	247	-			77					A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	c.230G>A	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829604	0.91036	.	.	ENSG00000174521	ENST00000311308	T	0.15718	2.4	4.46	4.46	0.54185	Tetratricopeptide-like helical (1);	0.154213	0.43260	N	0.000583	T	0.15089	0.0364	L	0.42529	1.33	0.35092	D	0.764423	D	0.53312	0.959	B	0.42462	0.388	T	0.18241	-1.0343	10	0.52906	T	0.07	-4.3192	8.5051	0.33181	0.0:0.8921:0.0:0.1079	.	77	Q8N6N2	TTC9B_HUMAN	Q	77	ENSP00000311760:R77Q	ENSP00000311760:R77Q	R	-	2	0	TTC9B	45415899	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.290000	0.65661	2.049000	0.60858	0.289000	0.19496	CGA		0.736	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		10	148	0	0	0	1	0	10	148				
NUMBL	9253	broad.mit.edu	37	19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(337-339)tCc>tTc		numb homolog (Drosophila)-like							97.0	88.0	91.0					19																	41188694		2203	4300	6503	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41188694G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.338C>T	19.37:g.41188694G>A	ENSP00000252891:p.Ser113Phe					NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F	p.S113F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		5	505	-			113			PID.		Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.338C>T	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065526	0.76187	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.20069	2.1;2.1	4.77	4.77	0.60923	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061068	0.64402	D	0.000003	T	0.25232	0.0613	N	0.11201	0.11	0.43347	D	0.995408	D;D	0.67145	0.996;0.996	P;P	0.59546	0.859;0.859	T	0.25293	-1.0136	10	0.72032	D	0.01	-30.3947	16.9155	0.86150	0.0:0.0:1.0:0.0	.	113;113	A8K033;Q9Y6R0	.;NUMBL_HUMAN	F	113;72	ENSP00000252891:S113F;ENSP00000442759:S72F	ENSP00000252891:S113F	S	-	2	0	NUMBL	45880534	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.147000	0.64851	2.346000	0.79739	0.585000	0.79938	TCC		0.652	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		14	315	0	0	0	1	0	14	315				
GRB14	2888	broad.mit.edu	37	2	165353553	165353553	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165353553A>G	ENST00000263915.3	-	12	1885	c.1347T>C	c.(1345-1347)gcT>gcC	p.A449A	GRB14_ENST00000543549.1_Silent_p.A362A|GRB14_ENST00000497306.1_5'UTR	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	449	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAATCGCTGAGCCTCATCTC	0.383																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1345-1347)gcT>gcC		growth factor receptor-bound protein 14							86.0	81.0	83.0					2																	165353553		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353553A>G		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1347T>C	2.37:g.165353553A>G						GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Silent_p.A362A	p.A449A	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			12	1885	-			449			SH2.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.1347T>C	CCDS2222.1																																																																																				0.383	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			16	296	0	0	0	1	0	16	296				
AP1M1	8907	broad.mit.edu	37	19	16314368	16314368	+	Silent	SNP	G	G	A	rs146062531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16314368G>A	ENST00000291439.3	+	2	590	c.141G>A	c.(139-141)tcG>tcA	p.S47S	AP1M1_ENST00000444449.2_Silent_p.S47S|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Silent_p.S47S|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	47					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GGATGCTGTCGCCCATCCTGG	0.597																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(139-141)tcG>tcA		adaptor-related protein complex 1, mu 1 subunit		G	,	3,4403	6.2+/-15.9	0,3,2200	95.0	85.0	88.0		141,141	-9.2	0.2	19	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AP1M1	NM_001130524.1,NM_032493.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	47/436,47/424	16314368	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16314368G>A		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.141G>A	19.37:g.16314368G>A						AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Silent_p.S47S|AP1M1_ENST00000444449.2_Silent_p.S47S	p.S47S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			2	590	+			47					Q4TTY5	Silent	SNP	ENST00000291439.3	37	c.141G>A	CCDS12342.1																																																																																				0.597	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		60	336	0	0	0	1	0	60	336				
CD163L1	283316	broad.mit.edu	37	12	7531717	7531717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531717G>A	ENST00000313599.3	-	9	2285	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	743	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTGAAATGAGGCTCTCTGGA	0.483																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2227-2229)cCt>cTt		CD163 molecule-like 1							124.0	107.0	113.0					12																	7531717		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531717G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2228C>T	12.37:g.7531717G>A	ENSP00000315945:p.Pro743Leu					CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L	p.P743L			Q9NR16	C163B_HUMAN			9	2285	-			743			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2228C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060813	0.19987	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.187460	0.03114	U	0.162876	T	0.25382	0.0617	N	0.26042	0.785	0.09310	N	1	B;B	0.26635	0.155;0.155	B;B	0.31495	0.131;0.131	T	0.27536	-1.0071	10	0.51188	T	0.08	.	5.5718	0.17200	0.4564:0.1455:0.3982:0.0	.	753;743	E7EVK4;Q9NR16	.;C163B_HUMAN	L	743;753;743	ENSP00000315945:P743L;ENSP00000393474:P753L;ENSP00000379871:P743L	ENSP00000315945:P743L	P	-	2	0	CD163L1	7422984	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.428000	0.06991	-1.435000	0.01972	0.455000	0.32223	CCT		0.483	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		100	394	0	0	0	1	0	100	394				
GPATCH2L	55668	broad.mit.edu	37	14	76644343	76644343	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76644343G>A	ENST00000261530.7	+	7	1131	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	GPATCH2L_ENST00000553588.1_5'Flank|GPATCH2L_ENST00000312858.5_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	355																	AGAATAAAGCGTTGGCTTCTG	0.343																																						ENST00000261530.7																			0											c.(1063-1065)gcG>gcA		G patch domain containing 2-like							175.0	182.0	180.0					14																	76644343		2203	4300	6503	SO:0001819	synonymous_variant	55668							g.chr14:76644343G>A	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1065G>A	14.37:g.76644343G>A						GPATCH2L_ENST00000312858.5_Intron	p.A355A	NM_017926.2	NP_060396.2					7	1131	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Silent	SNP	ENST00000261530.7	37	c.1065G>A	CCDS9848.1																																																																																				0.343	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		39	244	0	0	0	1	0	39	244				
NMRK2	27231	broad.mit.edu	37	19	3942256	3942256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3942256G>A	ENST00000168977.2	+	8	968	c.678G>A	c.(676-678)caG>caA	p.Q226Q	NMRK2_ENST00000599576.1_3'UTR|NMRK2_ENST00000593949.1_Silent_p.Q231Q	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	226					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										CAGCGTCCCAGCAGGACAGCA	0.687																																						ENST00000168977.2																			0											c.(676-678)caG>caA		nicotinamide riboside kinase 2							18.0	18.0	18.0					19																	3942256		2198	4297	6495	SO:0001819	synonymous_variant	27231							g.chr19:3942256G>A	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.678G>A	19.37:g.3942256G>A						NMRK2_ENST00000599576.1_3'UTR|NMRK2_ENST00000593949.1_Silent_p.Q231Q	p.Q226Q	NM_170678.2	NP_733778.1					8	968	+								B7ZKR3|Q52M81|Q9NZK3	Silent	SNP	ENST00000168977.2	37	c.678G>A	CCDS12115.1																																																																																				0.687	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		12	96	0	0	0	1	0	12	96				
CNTROB	116840	broad.mit.edu	37	17	7846813	7846813	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7846813G>A	ENST00000563694.1	+	10	2341	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	CNTROB_ENST00000565740.1_Silent_p.R472R|CNTROB_ENST00000380262.3_Silent_p.R472R|CNTROB_ENST00000380255.3_Silent_p.R472R	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	472	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGCCTACGGCAAGCAGCCT	0.622																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1414-1416)cgG>cgA		centrobin, centrosomal BRCA2 interacting protein							53.0	40.0	44.0					17																	7846813		2202	4300	6502	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7846813G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1416G>A	17.37:g.7846813G>A						CNTROB_ENST00000565740.1_Silent_p.R472R|CNTROB_ENST00000380255.3_Silent_p.R472R|CNTROB_ENST00000563694.1_Silent_p.R472R	p.R472R	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			10	2341	+		Prostate(122;0.173)	472			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.1416G>A	CCDS11126.1																																																																																				0.622	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		48	253	0	0	0	1	0	48	253				
PROM2	150696	broad.mit.edu	37	2	95941711	95941711	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95941711G>A	ENST00000317620.9	+	3	461	c.328G>A	c.(328-330)Gct>Act	p.A110T	PROM2_ENST00000542147.1_Missense_Mutation_p.A110T|PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTGGTATGCGCTGTGATCGC	0.687																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(328-330)Gct>Act		prominin 2							23.0	34.0	30.0					2																	95941711		2202	4298	6500	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95941711G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.328G>A	2.37:g.95941711G>A	ENSP00000318270:p.Ala110Thr					PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000542147.1_Missense_Mutation_p.A110T|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T	p.A110T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			3	461	+			110					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.328G>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633838	0.47049	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.77	3.82	0.43975	.	0.000000	0.64402	D	0.000013	T	0.64091	0.2567	M	0.77616	2.38	0.09310	N	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.25106	T	0.35	-9.3479	10.0963	0.42478	0.0:0.2043:0.7957:0.0	.	110	Q8N271	PROM2_HUMAN	T	110	ENSP00000385716:A110T;ENSP00000318520:A110T;ENSP00000318270:A110T;ENSP00000442542:A110T	ENSP00000318270:A110T	A	+	1	0	PROM2	95305438	0.154000	0.22792	0.447000	0.26932	0.008000	0.06430	2.125000	0.42016	2.176000	0.68965	0.462000	0.41574	GCT		0.687	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		39	115	0	0	0	1	0	39	115				
ZZZ3	26009	broad.mit.edu	37	1	78097537	78097537	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78097537T>G	ENST00000370801.3	-	5	1978	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	501					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACACATACTCTTTGTTGTGTT	0.348																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1501-1503)aaA>aaC		zinc finger, ZZ-type containing 3							91.0	87.0	88.0					1																	78097537		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78097537T>G	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1503A>C	1.37:g.78097537T>G	ENSP00000359837:p.Lys501Asn					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	p.K501N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	1978	-			501					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1503A>C	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404934	0.42613	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.74023	0.982;0.82;0.913	T	0.72868	-0.4162	9	0.56958	D	0.05	.	15.755	0.78015	0.0:0.0:0.0:1.0	.	501;501;501	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	501	.	ENSP00000359837:K501N	K	-	3	2	ZZZ3	77870125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.266000	0.75297	0.533000	0.62120	AAA		0.348	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		59	214	0	0	0	1	0	59	214				
WDR70	55100	broad.mit.edu	37	5	37723012	37723012	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37723012C>T	ENST00000265107.4	+	15	1729	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	525							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCTGAGACTCTAACTCAGGA	0.403																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1573-1575)Cta>Tta		WD repeat domain 70							155.0	145.0	149.0					5																	37723012		2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37723012C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1573C>T	5.37:g.37723012C>T							p.L525L	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		15	1729	+	all_lung(31;0.000285)		525					Q9H053	Silent	SNP	ENST00000265107.4	37	c.1573C>T	CCDS34147.1																																																																																				0.403	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		60	283	0	0	0	1	0	60	283				
ERCC1	2067	broad.mit.edu	37	19	45924573	45924573	+	Missense_Mutation	SNP	C	C	T	rs150584960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45924573C>T	ENST00000300853.3	-	3	775	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K|ERCC1_ENST00000591636.1_Missense_Mutation_p.E62K|ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	62					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		ATGGCATATTCGGCGTAGGTC	0.642								Nucleotide excision repair (NER)																														ENST00000300853.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(184-186)Gaa>Aaa	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	79.0	76.0	77.0		184,184,184	4.8	0.9	19	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense,missense	ERCC1	NM_001166049.1,NM_001983.3,NM_202001.2	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	62/274,62/298,62/324	45924573	1,13005	2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45924573C>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.184G>A	19.37:g.45924573C>T	ENSP00000300853:p.Glu62Lys					ERCC1_ENST00000591636.1_Missense_Mutation_p.E62K|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K|ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K	p.E62K	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	3	775	-		Ovarian(192;0.051)|all_neural(266;0.112)	62					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.184G>A	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548848	0.45383	2.27E-4	0.0	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000013807	T;T;T	0.44083	0.95;0.95;0.93	4.78	4.78	0.61160	.	0.247214	0.38272	N	0.001752	T	0.30448	0.0765	L	0.27053	0.805	0.32274	N	0.568456	D;P;D	0.59357	0.985;0.94;0.957	B;B;B	0.43155	0.41;0.269;0.225	T	0.26360	-1.0105	10	0.19147	T	0.46	-33.5429	13.6581	0.62349	0.0:1.0:0.0:0.0	.	62;62;62	Q7Z7F5;Q96S40;P07992	.;.;ERCC1_HUMAN	K	62	ENSP00000300853:E62K;ENSP00000345203:E62K;ENSP00000013807:E62K	ENSP00000013807:E62K	E	-	1	0	ERCC1	50616413	0.950000	0.32346	0.932000	0.37286	0.053000	0.15095	2.455000	0.44988	2.372000	0.80975	0.491000	0.48974	GAA		0.642	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		82	364	0	0	0	1	0	82	364				
PAQR9	344838	broad.mit.edu	37	3	142681855	142681855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681855G>A	ENST00000340634.3	-	1	323	c.324C>T	c.(322-324)agC>agT	p.S108S	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	108						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CGTCGCCGCCGCTCAGGAAGA	0.627																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(322-324)agC>agT		progestin and adipoQ receptor family member IX							77.0	83.0	81.0					3																	142681855		2203	4300	6503	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142681855G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.324C>T	3.37:g.142681855G>A						RP11-372E1.6_ENST00000594095.1_RNA	p.S108S	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	323	-			108					Q147T6	Silent	SNP	ENST00000340634.3	37	c.324C>T	CCDS3128.1																																																																																				0.627	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		50	168	0	0	0	1	0	50	168				
SERPIND1	3053	broad.mit.edu	37	22	21141285	21141285	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21141285C>T	ENST00000215727.5	+	5	1714	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	SERPIND1_ENST00000406799.1_Silent_p.F477F|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCTTTCTTTTCCTCATCTACG	0.592																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1429-1431)ttC>ttT		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						117.0	90.0	99.0					22																	21141285		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21141285C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1431C>T	22.37:g.21141285C>T						PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.F477F|PI4KA_ENST00000572273.1_Intron	p.F477F	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		5	1714	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	477					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.1431C>T	CCDS13783.1																																																																																				0.592	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		84	384	0	0	0	1	0	84	384				
DPYS	1807	broad.mit.edu	37	8	105463555	105463555	+	Silent	SNP	G	G	A	rs538642538	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105463555G>A	ENST00000351513.2	-	2	474	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	114					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCAGGTCTCGAAGGCCTCAA	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18105	0.0		0.0	False		,,,				2504	0.0					ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(340-342)ttC>ttT		dihydropyrimidinase							98.0	87.0	91.0					8																	105463555		2203	4300	6503	SO:0001819	synonymous_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105463555G>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.342C>T	8.37:g.105463555G>A							p.F114F	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	474	-			114						Silent	SNP	ENST00000351513.2	37	c.342C>T	CCDS6302.1																																																																																				0.517	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		37	193	0	0	0	1	0	37	193				
ADCK3	56997	broad.mit.edu	37	1	227172643	227172643	+	Splice_Site	SNP	G	G	A	rs113227759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227172643G>A	ENST00000366779.1	+	18	4343		c.e18+1		ADCK3_ENST00000433743.2_Splice_Site|ADCK3_ENST00000458507.2_Splice_Site|ADCK3_ENST00000366777.3_Splice_Site|ADCK3_ENST00000366778.1_Splice_Site|ADCK3_ENST00000478406.1_Splice_Site			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTACATTCAGGTAACTGGAGA	0.567																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.e18+1		aarF domain containing kinase 3							57.0	55.0	55.0					1																	227172643		2203	4300	6503	SO:0001630	splice_region_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227172643G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1572+1G>A	1.37:g.227172643G>A						ADCK3_ENST00000478406.1_Splice_Site|ADCK3_ENST00000366778.1_Splice_Site|ADCK3_ENST00000458507.2_Splice_Site|ADCK3_ENST00000366777.3_Splice_Site|ADCK3_ENST00000366776.1_Splice_Site|ADCK3_ENST00000366775.1_Splice_Site|ADCK3_ENST00000433743.2_Splice_Site				Q8NI60	ADCK3_HUMAN			18	4343	+								Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Splice_Site	SNP	ENST00000366779.1	37		CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050988	0.75960	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8324	0.92145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCK3	225239266	1.000000	0.71417	0.996000	0.52242	0.734000	0.41952	9.805000	0.99149	2.429000	0.82318	0.561000	0.74099	.		0.567	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247	Intron	57	196	0	0	0	1	0	57	196				
SCN8A	6334	broad.mit.edu	37	12	52080881	52080881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52080881G>A	ENST00000354534.6	+	5	670	c.492G>A	c.(490-492)acG>acA	p.T164T	SCN8A_ENST00000545061.1_Silent_p.T164T|SCN8A_ENST00000550891.1_Silent_p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	164					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACAGGTACACGTTCACAGGGA	0.378																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(490-492)acG>acA		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						101.0	91.0	94.0					12																	52080881		1848	4088	5936	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52080881G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.492G>A	12.37:g.52080881G>A						SCN8A_ENST00000545061.1_Silent_p.T164T|SCN8A_ENST00000550891.1_Silent_p.T164T	p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	5	670	+			164					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.492G>A	CCDS44891.1																																																																																				0.378	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		23	217	0	0	0	1	0	23	217				
CCDC39	339829	broad.mit.edu	37	3	180397253	180397253	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180397253C>T	ENST00000442201.2	-	0	35				CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGCCCAGGCACCTGCACAGTG	0.582																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45								coiled-coil domain containing 39																																						339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180397253C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.-85G>A	3.37:g.180397253C>T						CCDC39_ENST00000273654.4_Intron		NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		0	35	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)							B4E2H1	Translation_Start_Site	SNP	ENST00000442201.2	37		CCDS46964.1																																																																																				0.582	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		61	241	0	0	0	1	0	61	241				
LEPRE1	64175	broad.mit.edu	37	1	43213396	43213396	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213396T>C	ENST00000296388.5	-	13	1963	c.1912A>G	c.(1912-1914)Acg>Gcg	p.T638A	LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A|LEPRE1_ENST00000236040.4_Missense_Mutation_p.T638A|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	638	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCACTCACCGTCACGGTCTTG	0.473											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000236040.4																			0				large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1912-1914)Acg>Gcg		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						190.0	189.0	189.0					1																	43213396		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43213396T>C	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1912A>G	1.37:g.43213396T>C	ENSP00000296388:p.Thr638Ala		OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000296388.5_Missense_Mutation_p.T638A|LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A	p.T638A	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			13	1952	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	638			Fe2OG dioxygenase.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1912A>G	CCDS472.2	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283536	0.80803	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42900	0.96;0.96;0.96	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.054971	0.64402	D	0.000001	T	0.49813	0.1579	L	0.52206	1.635	0.47994	D	0.999569	P;P;D	0.58620	0.949;0.907;0.983	P;P;P	0.53593	0.73;0.589;0.715	T	0.53358	-0.8450	10	0.72032	D	0.01	-18.7453	12.8443	0.57821	0.0:0.0:0.0:1.0	.	638;503;638	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	A	638;638;638;503	ENSP00000380245:T638A;ENSP00000236040:T638A;ENSP00000296388:T638A	ENSP00000236040:T638A	T	-	1	0	LEPRE1	42985983	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.589000	0.82641	1.922000	0.55676	0.533000	0.62120	ACG		0.473	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		196	701	0	0	0	1	0	196	701				
KRT15	3866	broad.mit.edu	37	17	39674821	39674821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39674821C>A	ENST00000254043.3	-	1	3844	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G87W	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	87	Gly-rich.|Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ccaaaacccccaccaacgccc	0.577																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(259-261)Ggg>Tgg		keratin 15							280.0	270.0	273.0					17																	39674821		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39674821C>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.259G>T	17.37:g.39674821C>A	ENSP00000254043:p.Gly87Trp					KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G87W	p.G87W	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			1	3844	-		Breast(137;0.000286)	87			Gly-rich.|Head.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.259G>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	7.354	0.623418	0.14193	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.86562	-2.14;-2.14	4.27	4.27	0.50696	.	0.000000	0.40640	N	0.001046	D	0.91106	0.7200	L	0.60067	1.865	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.90334	0.4354	10	0.38643	T	0.18	.	15.9817	0.80114	0.0:1.0:0.0:0.0	.	87	P19012	K1C15_HUMAN	W	87	ENSP00000254043:G87W;ENSP00000377546:G87W	ENSP00000254043:G87W	G	-	1	0	KRT15	36928347	0.007000	0.16637	0.669000	0.29828	0.037000	0.13140	0.834000	0.27518	2.393000	0.81446	0.511000	0.50034	GGG		0.577	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		153	526	1	0	3.14265e-60	1	3.95137e-60	153	526				
HAUS5	23354	broad.mit.edu	37	19	36106154	36106154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36106154G>T	ENST00000203166.5	+	6	376	c.351G>T	c.(349-351)caG>caT	p.Q117H	HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	117					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGGCACGTCAGCACACTCAAG	0.647																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(349-351)caG>caT		HAUS augmin-like complex, subunit 5							30.0	35.0	33.0					19																	36106154		2157	4259	6416	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36106154G>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.351G>T	19.37:g.36106154G>T	ENSP00000439056:p.Gln117His					HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H	p.Q117H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			6	376	+			117					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.351G>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478730	0.26511	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.33216	1.42;1.42	5.52	2.13	0.27403	.	0.377447	0.27473	N	0.019217	T	0.28797	0.0714	M	0.69823	2.125	0.09310	N	1	B	0.18013	0.025	B	0.15052	0.012	T	0.31024	-0.9958	10	0.72032	D	0.01	-5.4362	5.3833	0.16204	0.1877:0.1629:0.6493:0.0	.	117	O94927	HAUS5_HUMAN	H	117	ENSP00000439056:Q117H;ENSP00000444373:Q117H	ENSP00000439056:Q117H	Q	+	3	2	HAUS5	40797994	0.950000	0.32346	0.066000	0.19879	0.002000	0.02628	1.781000	0.38644	0.250000	0.21479	-0.145000	0.13849	CAG		0.647	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			24	139	1	0	1.26454e-06	1	1.30625e-06	24	139				
GAD1	2571	broad.mit.edu	37	2	171678658	171678658	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171678658C>T	ENST00000358196.3	+	3	694	c.144C>T	c.(142-144)tgC>tgT	p.C48C	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Splice_Site_p.C48C|GAD1_ENST00000375272.1_Splice_Site_p.C48C	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	48					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TCAAGATCTGCGGTAAGTGAC	0.657																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.e3+1		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						50.0	44.0	46.0					2																	171678658		2203	4300	6503	SO:0001630	splice_region_variant	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171678658C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.145+1C>T	2.37:g.171678658C>T						GAD1_ENST00000344257.5_Splice_Site_p.C48_splice|GAD1_ENST00000375272.1_Splice_Site_p.C48_splice|GAD1_ENST00000429023.1_3'UTR	p.C48_splice	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			3	694	+			48					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Splice_Site	SNP	ENST00000358196.3	37	c.145_splice	CCDS2239.1																																																																																				0.657	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		Silent	16	97	0	0	0	1	0	16	97				
RSPO4	343637	broad.mit.edu	37	20	944697	944697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:944697G>A	ENST00000217260.4	-	4	572	c.476C>T	c.(475-477)tCg>tTg	p.S159L	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	159	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCCCAAGCCGAGCCGCAGGT	0.632																																						ENST00000217260.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(475-477)tCg>tTg		R-spondin 4							19.0	23.0	21.0					20																	944697		1877	4061	5938	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:944697G>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.476C>T	20.37:g.944697G>A	ENSP00000217260:p.Ser159Leu					RSPO4_ENST00000400634.2_Intron	p.S159L	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN			4	572	-			159			TSP type-1.		A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.476C>T	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	G	6.449	0.450969	0.12223	.	.	ENSG00000101282	ENST00000217260	T	0.79352	-1.26	4.35	3.4	0.38934	.	0.869683	0.09951	N	0.734660	T	0.65207	0.2669	L	0.39085	1.19	0.09310	N	0.999998	B	0.33022	0.394	B	0.28465	0.09	T	0.57785	-0.7751	10	0.59425	D	0.04	-14.9986	4.7996	0.13290	0.1985:0.1798:0.6217:0.0	.	159	Q2I0M5	RSPO4_HUMAN	L	159	ENSP00000217260:S159L	ENSP00000217260:S159L	S	-	2	0	RSPO4	892697	0.414000	0.25408	0.156000	0.22583	0.047000	0.14425	0.871000	0.28023	0.969000	0.38237	0.298000	0.19748	TCG		0.632	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		72	216	0	0	0	1	0	72	216				
FST	10468	broad.mit.edu	37	5	52778894	52778894	+	Silent	SNP	C	C	T	rs187224046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52778894C>T	ENST00000256759.3	+	2	653	c.270C>T	c.(268-270)ccC>ccT	p.P90P	FST_ENST00000396947.3_Silent_p.P90P	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	90	TB.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACTGCATCCCCTGTAAAGGTA	0.577											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(268-270)ccC>ccT		follistatin							57.0	61.0	60.0					5																	52778894		2203	4300	6503	SO:0001819	synonymous_variant	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52778894C>T	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.270C>T	5.37:g.52778894C>T			OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	FST_ENST00000256759.3_Silent_p.P90P	p.P90P	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			2	436	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	90			TB.		B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	c.270C>T	CCDS3959.1																																																																																				0.577	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		57	244	0	0	0	1	0	57	244				
GRM1	2911	broad.mit.edu	37	6	146350781	146350781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146350781G>T	ENST00000282753.1	+	1	363	c.128G>T	c.(127-129)gGa>gTa	p.G43V	GRM1_ENST00000361719.2_Missense_Mutation_p.G43V|GRM1_ENST00000392299.2_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000492807.2_Missense_Mutation_p.G43V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	43					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGAATGGACGGAGATGTCATC	0.597																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(127-129)gGa>gTa		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						86.0	91.0	90.0					6																	146350781		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350781G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.128G>T	6.37:g.146350781G>T	ENSP00000282753:p.Gly43Val					GRM1_ENST00000492807.2_Missense_Mutation_p.G43V|GRM1_ENST00000282753.1_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000361719.2_Missense_Mutation_p.G43V	p.G43V			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	598	+		Ovarian(120;0.0387)	43					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.128G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637900	0.87760	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.94539	0.7743	10	0.87932	D	0	.	19.5425	0.95280	0.0:0.0:1.0:0.0	.	43;43;38;43	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	43	ENSP00000354896:G43V;ENSP00000376119:G43V;ENSP00000424095:G43V;ENSP00000282753:G43V;ENSP00000347437:G43V;ENSP00000425599:G43V	ENSP00000282753:G43V	G	+	2	0	GRM1	146392474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.619000	0.88677	0.561000	0.74099	GGA		0.597	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		138	607	1	0	6.25873e-39	1	7.55585e-39	138	607				
U2SURP	23350	broad.mit.edu	37	3	142739482	142739482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142739482G>A	ENST00000473835.2	+	8	770	c.680G>A	c.(679-681)aGa>aAa	p.R227K	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.R227K	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	227					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACAAAAGGCAGATTAAGTCGA	0.338																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(679-681)aGa>aAa		U2 snRNP-associated SURP domain containing							125.0	117.0	120.0					3																	142739482		1899	4122	6021	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142739482G>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.680G>A	3.37:g.142739482G>A	ENSP00000418563:p.Arg227Lys					U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.R227K	p.R227K	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			8	770	+			227					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.680G>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431484	0.62844	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.10288	2.89;2.89	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.43152	1.355	0.80722	D	1	P;B;B	0.42649	0.786;0.39;0.27	B;B;B	0.40009	0.316;0.239;0.12	T	0.06570	-1.0819	10	0.06236	T	0.91	-15.294	19.8326	0.96642	0.0:0.0:1.0:0.0	.	227;227;227	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	K	227	ENSP00000418563:R227K;ENSP00000422011:R227K	ENSP00000322376:R227K	R	+	2	0	U2SURP	144222172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.811000	0.91954	2.686000	0.91538	0.591000	0.81541	AGA		0.338	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		12	94	0	0	0	1	0	12	94				
KIAA0907	22889	broad.mit.edu	37	1	155899568	155899568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155899568C>A	ENST00000368321.3	-	3	342	c.319G>T	c.(319-321)Gta>Tta	p.V107L	KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000368320.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	107							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTAATTTCTACTTCAGCTACC	0.443																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(319-321)Gta>Tta		KIAA0907							163.0	146.0	152.0					1																	155899568		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155899568C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.319G>T	1.37:g.155899568C>A	ENSP00000357304:p.Val107Leu					KIAA0907_ENST00000368321.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR	p.V107L			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		3	344	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		107					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.319G>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266596	0.95399	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.25485	0.75	0.80722	D	1	P;D;P;P;P;P	0.53151	0.851;0.958;0.851;0.936;0.736;0.736	P;P;B;P;B;B	0.54431	0.546;0.752;0.444;0.64;0.422;0.422	T	0.24333	-1.0163	9	0.12430	T	0.62	-11.2924	18.7817	0.91934	0.0:1.0:0.0:0.0	.	107;107;107;107;107;107	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	L	107	.	ENSP00000357302:V107L	V	-	1	0	KIAA0907	154166192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.767000	0.95098	0.563000	0.77884	GTA		0.443	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		57	228	1	0	9.72345e-25	1	1.11288e-24	57	228				
CDH5	1003	broad.mit.edu	37	16	66436913	66436913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66436913C>T	ENST00000341529.3	+	12	2344	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	CDH5_ENST00000539168.1_Silent_p.G171G	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ACATCTACGGCTACGAGGGCT	0.642																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2194-2196)ggC>ggT		cadherin 5, type 2 (vascular endothelium)							55.0	46.0	49.0					16																	66436913		2200	4300	6500	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436913C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2196C>T	16.37:g.66436913C>T						CDH5_ENST00000539168.1_Silent_p.G171G	p.G732G	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2344	+		Ovarian(137;0.0955)	732					Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.2196C>T	CCDS10804.1																																																																																				0.642	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		28	101	0	0	0	1	0	28	101				
SLC17A3	10786	broad.mit.edu	37	6	25862211	25862211	+	Intron	SNP	C	C	T	rs376483140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862211C>T	ENST00000360657.3	-	3	589				SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000397060.4_Missense_Mutation_p.G117D			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCCAACAGCACCAAAGATGAT	0.448																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(349-351)gGt>gAt		solute carrier family 17 (organic anion transporter), member 3		C	ASP/GLY,	0,4174		0,0,2087	79.0	77.0	77.0		350,	0.7	0.0	6		77	1,8427		0,1,4213	no	missense,intron	SLC17A3	NM_001098486.1,NM_006632.3	94,	0,1,6300	TT,TC,CC		0.0119,0.0,0.0079	benign,	117/499,	25862211	1,12601	2087	4214	6301	SO:0001627	intron_variant	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862211C>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.303+249G>A	6.37:g.25862211C>T						SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000360657.3_Intron	p.G117D	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			4	459	-			0					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.350G>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340078	0.24339	0.0	1.19E-4	ENSG00000124564	ENST00000397060	T	0.59083	0.29	3.58	0.663	0.17885	.	.	.	.	.	T	0.61714	0.2369	M	0.86097	2.795	0.09310	N	1	P;D	0.56521	0.741;0.976	P;D	0.67548	0.593;0.952	T	0.51764	-0.8664	9	0.72032	D	0.01	.	6.6588	0.23002	0.1934:0.43:0.3766:0.0	.	98;117	B7Z3L7;B7Z511	.;.	D	117	ENSP00000380250:G117D	ENSP00000380250:G117D	G	-	2	0	SLC17A3	25970190	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.792000	0.26929	0.106000	0.17784	0.563000	0.77884	GGT		0.448	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			17	68	0	0	0	1	0	17	68				
THSD7A	221981	broad.mit.edu	37	7	11415430	11415430	+	Silent	SNP	G	G	A	rs183786782	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11415430G>A	ENST00000423059.4	-	28	5216	c.4965C>T	c.(4963-4965)gcC>gcT	p.A1655A	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1655					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTTACATGTCGGCATCTCCAT	0.408										HNSCC(18;0.044)			G|||	4	0.000798722	0.0008	0.0029	5008	,	,		15227	0.0		0.001	False		,,,				2504	0.0					ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4963-4965)gcC>gcT		thrombospondin, type I, domain containing 7A							161.0	163.0	162.0					7																	11415430		1836	4095	5931	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11415430G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4965C>T	7.37:g.11415430G>A		HNSCC(18;0.044)				AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA	p.A1655A	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	28	5216	-			1655						Silent	SNP	ENST00000423059.4	37	c.4965C>T	CCDS47543.1																																																																																				0.408	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		48	447	0	0	0	1	0	48	447				
WDR4	10785	broad.mit.edu	37	21	44272427	44272427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44272427G>A	ENST00000398208.2	-	10	1042	c.983C>T	c.(982-984)cCt>cTt	p.P328L	WDR4_ENST00000330317.2_Missense_Mutation_p.P328L|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGTGCTCTCAGGAACAGACTG	0.567																																						ENST00000398208.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11						c.(982-984)cCt>cTt		WD repeat domain 4							80.0	63.0	69.0					21																	44272427		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44272427G>A	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.983C>T	21.37:g.44272427G>A	ENSP00000381266:p.Pro328Leu					WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.P328L	p.P328L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	10	1042	-			328						Missense_Mutation	SNP	ENST00000398208.2	37	c.983C>T	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875627	0.33162	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.60171	0.21;0.21	4.12	3.21	0.36854	.	0.441052	0.24054	N	0.041971	T	0.47432	0.1445	M	0.62723	1.935	0.20403	N	0.999908	B;B	0.33583	0.418;0.07	B;B	0.31101	0.124;0.014	T	0.30416	-0.9979	10	0.11485	T	0.65	-3.186	9.7814	0.40651	0.0:0.2104:0.7896:0.0	.	327;328	P57081-2;P57081	.;WDR4_HUMAN	L	328	ENSP00000328671:P328L;ENSP00000381266:P328L	ENSP00000328671:P328L	P	-	2	0	WDR4	43145496	0.782000	0.28689	0.264000	0.24511	0.026000	0.11368	1.200000	0.32247	1.048000	0.40298	0.655000	0.94253	CCT		0.567	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			33	99	0	0	0	1	0	33	99				
AHRR	57491	broad.mit.edu	37	5	427974	427974	+	Missense_Mutation	SNP	C	C	T	rs373499533		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:427974C>T	ENST00000505113.1	+	8	817	c.773C>T	c.(772-774)gCg>gTg	p.A258V	AHRR_ENST00000512529.1_Missense_Mutation_p.A104V|AHRR_ENST00000506456.1_Missense_Mutation_p.A114V|AHRR_ENST00000316418.5_Missense_Mutation_p.A276V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	258					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AAGAAGAAGGCGCCGTCAGGA	0.562																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(826-828)gCg>gTg		aryl-hydrocarbon receptor repressor			VAL/ALA,VAL/ALA	1,3741		0,1,1870	27.0	31.0	29.0		773,827	4.9	0.8	5		29	0,8202		0,0,4101	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	64,64	0,1,5971	TT,TC,CC		0.0,0.0267,0.0084	possibly-damaging,possibly-damaging	258/702,276/720	427974	1,11943	1871	4101	5972	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:427974C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.773C>T	5.37:g.427974C>T	ENSP00000424601:p.Ala258Val					AHRR_ENST00000506456.1_Missense_Mutation_p.A114V|AHRR_ENST00000505113.1_Missense_Mutation_p.A258V|AHRR_ENST00000512529.1_Missense_Mutation_p.A104V	p.A276V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	871	+			258					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.827C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	c	16.60	3.168850	0.57584	2.67E-4	0.0	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.23950	2.2;2.2;1.88;1.88	4.88	4.88	0.63580	.	0.471757	0.24341	N	0.039375	T	0.40694	0.1127	M	0.64170	1.965	0.29623	N	0.846065	D;B;P	0.64830	0.994;0.443;0.884	P;B;B	0.53649	0.731;0.085;0.165	T	0.40079	-0.9582	10	0.59425	D	0.04	.	15.5229	0.75877	0.0:1.0:0.0:0.0	.	114;258;276	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	258;276;104;114	ENSP00000424601:A258V;ENSP00000323816:A276V;ENSP00000424880:A104V;ENSP00000426932:A114V	ENSP00000323816:A276V	A	+	2	0	AHRR	480974	1.000000	0.71417	0.790000	0.31976	0.452000	0.32318	5.258000	0.65479	2.244000	0.73946	0.580000	0.79431	GCG		0.562	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		50	230	0	0	0	1	0	50	230				
GOLGB1	2804	broad.mit.edu	37	3	121410400	121410400	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121410400T>G	ENST00000340645.5	-	14	7921	c.7796A>C	c.(7795-7797)gAt>gCt	p.D2599A	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2604A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2599					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAGATAAATCTTGTTTCTC	0.373																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(7810-7812)gAt>gCt		golgin B1							78.0	81.0	80.0					3																	121410400		2202	4300	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410400T>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7796A>C	3.37:g.121410400T>G	ENSP00000341848:p.Asp2599Ala					GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2599A	p.D2604A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7921	-			2599					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7811A>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	0.592	-0.832790	0.02713	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13657	2.57;2.57	5.25	-1.15	0.09709	.	0.970057	0.08526	N	0.932793	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B;B;B	0.16396	0.01;0.017;0.01	B;B;B	0.16289	0.006;0.015;0.006	T	0.43798	-0.9369	10	0.13108	T	0.6	.	1.989	0.03442	0.1214:0.398:0.239:0.2416	.	2604;2604;2599	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	A	2599;2604	ENSP00000341848:D2599A;ENSP00000377275:D2604A	ENSP00000341848:D2599A	D	-	2	0	GOLGB1	122893090	0.000000	0.05858	0.562000	0.28370	0.588000	0.36517	0.043000	0.13971	0.061000	0.16311	-0.242000	0.12053	GAT		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		77	328	0	0	0	1	0	77	328				
RGS19	10287	broad.mit.edu	37	20	62705620	62705620	+	Silent	SNP	G	G	A	rs370731911		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20241	0.001		0.0	False		,,,				2504	0.0					ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(337-339)agC>agT		regulator of G-protein signaling 19		G	,	0,4406		0,0,2203	85.0	69.0	74.0		339,339	1.6	1.0	20		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS19	NM_001039467.1,NM_005873.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	113/218,113/218	62705620	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705620G>A	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.339C>T	20.37:g.62705620G>A						RGS19_ENST00000332298.5_Silent_p.S113S	p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			5	605	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		113			RGS.		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	c.339C>T	CCDS13555.1																																																																																				0.612	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		9	269	0	0	0	1	0	9	269				
CHRNB2	1141	broad.mit.edu	37	1	154544331	154544331	+	Silent	SNP	C	C	A	rs374720331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154544331C>A	ENST00000368476.3	+	5	1296	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	344					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	AGAAGCTGCCCGCGCTGCTCT	0.687																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(1030-1032)ccC>ccA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						46.0	31.0	36.0					1																	154544331		2203	4299	6502	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544331C>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1032C>A	1.37:g.154544331C>A							p.P344P	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1296	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		344					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.1032C>A	CCDS1070.1																																																																																				0.687	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		6	115	1	0	0.0293803	1	0.0294705	6	115				
WNK2	65268	broad.mit.edu	37	9	96031161	96031161	+	Missense_Mutation	SNP	G	G	A	rs555093767	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96031161G>A	ENST00000297954.4	+	19	4073	c.4073G>A	c.(4072-4074)cGc>cAc	p.R1358H	WNK2_ENST00000349097.3_Missense_Mutation_p.R970H|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1358					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCCATGGCGCAGAGCAGCC	0.592													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17813	0.0		0.0	False		,,,				2504	0.001					ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4072-4074)cGc>cAc		WNK lysine deficient protein kinase 2							7.0	7.0	7.0					9																	96031161		871	1980	2851	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96031161G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4073G>A	9.37:g.96031161G>A	ENSP00000297954:p.Arg1358His					WNK2_ENST00000349097.3_Missense_Mutation_p.R970H|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000395477.2_Intron	p.R1358H			Q9Y3S1	WNK2_HUMAN			19	4073	+			1358					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4073G>A		.	.	.	.	.	.	.	.	.	.	G	9.288	1.049891	0.19827	.	.	ENSG00000165238	ENST00000297954;ENST00000349097	T;T	0.32515	1.45;1.45	3.71	-5.99	0.02213	.	4.641330	0.00166	N	0.000016	T	0.15696	0.0378	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08806	-1.0704	9	0.34782	T	0.22	.	1.1838	0.01850	0.1995:0.1365:0.3616:0.3024	.	1358	Q9Y3S1	WNK2_HUMAN	H	1358;970	ENSP00000297954:R1358H;ENSP00000297876:R970H	ENSP00000297954:R1358H	R	+	2	0	WNK2	95070982	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.454000	0.02381	-1.097000	0.03042	-2.087000	0.00375	CGC		0.592	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		5	31	0	0	0	1	0	5	31				
C9orf43	257169	broad.mit.edu	37	9	116187992	116187992	+	Missense_Mutation	SNP	G	G	A	rs145109883	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116187992G>A	ENST00000288462.4	+	11	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	338										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTACCACCGTTCATGACCG	0.478																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(1012-1014)Gtt>Att		chromosome 9 open reading frame 43		G	ILE/VAL	0,4406		0,0,2203	143.0	118.0	126.0		1012	-3.6	0.0	9	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf43	NM_152786.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	338/462	116187992	1,13005	2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187992G>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1012G>A	9.37:g.116187992G>A	ENSP00000288462:p.Val338Ile					C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			11	1458	+			338						Missense_Mutation	SNP	ENST00000288462.4	37	c.1012G>A	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544781	0.13312	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.47177	0.85;0.85	3.98	-3.64	0.04515	.	2.072450	0.02239	N	0.065609	T	0.28499	0.0705	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.08186	-1.0734	10	0.15499	T	0.54	2.022	5.4062	0.16323	0.5812:0.0:0.2679:0.1509	.	338	Q8TAL5	CI043_HUMAN	I	338	ENSP00000363280:V338I;ENSP00000288462:V338I	ENSP00000288462:V338I	V	+	1	0	C9orf43	115227813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.823000	0.04301	-0.290000	0.09829	GTT		0.478	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		53	264	0	0	0	1	0	53	264				
ENC1	8507	broad.mit.edu	37	5	73931214	73931214	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73931214T>C	ENST00000302351.4	-	2	2227	c.1097A>G	c.(1096-1098)gAg>gGg	p.E366G	ENC1_ENST00000537006.1_Missense_Mutation_p.E366G|ENC1_ENST00000510316.1_Missense_Mutation_p.E293G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	366					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GGACCACTCCTCGTGCAGGGT	0.567																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1096-1098)gAg>gGg		ectodermal-neural cortex 1 (with BTB domain)							61.0	62.0	62.0					5																	73931214		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931214T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1097A>G	5.37:g.73931214T>C	ENSP00000306356:p.Glu366Gly					ENC1_ENST00000537006.1_Missense_Mutation_p.E366G|ENC1_ENST00000510316.1_Missense_Mutation_p.E293G	p.E366G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2227	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	366					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.1097A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172379	0.78452	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.76839	-1.05;-1.05;-1.05	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	N	0.25144	0.715	0.80722	D	1	B	0.19445	0.036	B	0.28305	0.088	T	0.67110	-0.5753	10	0.59425	D	0.04	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	366	O14682	ENC1_HUMAN	G	366;293;366	ENSP00000306356:E366G;ENSP00000423804:E293G;ENSP00000446289:E366G	ENSP00000306356:E366G	E	-	2	0	ENC1	73966970	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.040000	0.89188	2.254000	0.74563	0.459000	0.35465	GAG		0.567	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		93	418	0	0	0	1	0	93	418				
POTEE	445582	broad.mit.edu	37	2	131976082	131976082	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131976082G>T	ENST00000356920.5	+	1	201	c.107G>T	c.(106-108)aGg>aTg	p.R36M	POTEE_ENST00000358087.5_Missense_Mutation_p.R36M|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	36					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCCTGCTACAGGGAGAGCGGC	0.567																																						ENST00000356920.5																			0											c.(106-108)aGg>aTg		POTE ankyrin domain family, member E							153.0	177.0	169.0					2																	131976082		2187	4298	6485	SO:0001583	missense	445582						ATP binding	g.chr2:131976082G>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.107G>T	2.37:g.131976082G>T	ENSP00000439189:p.Arg36Met					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R36M|PLEKHB2_ENST00000404460.1_Intron	p.R36M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	201	+			36					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.107G>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.381	1.073004	0.20147	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.79749	-1.3;1.35	0.1	0.1	0.14510	.	.	.	.	.	T	0.70011	0.3175	N	0.24115	0.695	0.09310	N	1	P	0.46578	0.88	P	0.46208	0.507	T	0.61128	-0.7125	8	0.87932	D	0	.	.	.	.	.	36	Q6S8J3	POTEE_HUMAN	M	36	ENSP00000439189:R36M;ENSP00000443049:R36M	ENSP00000439189:R36M	R	+	2	0	AC131180.1	131692552	0.001000	0.12720	0.015000	0.15790	0.015000	0.08874	-0.471000	0.06631	0.170000	0.19704	0.173000	0.16961	AGG		0.567	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		97	1101	1	0	8.87156e-34	1	1.0529e-33	97	1101				
STXBP5	134957	broad.mit.edu	37	6	147581831	147581831	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147581831T>C	ENST00000321680.6	+	5	512	c.512T>C	c.(511-513)gTg>gCg	p.V171A	STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A|STXBP5_ENST00000367481.3_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	171					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTGTCAATGTGGAGTCCTTC	0.383																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(511-513)gTg>gCg		syntaxin binding protein 5 (tomosyn)							123.0	117.0	119.0					6																	147581831		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147581831T>C	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.512T>C	6.37:g.147581831T>C	ENSP00000321826:p.Val171Ala					STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A|STXBP5_ENST00000321680.6_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A	p.V171A	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	5	620	+		Ovarian(120;0.0164)	171					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.512T>C	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715895	0.68844	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.67171	1.49;4.94;1.49;-0.25	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.58428	1.81	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.76071	0.987;0.864	T	0.76788	-0.2830	10	0.56958	D	0.05	.	15.585	0.76475	0.0:0.0:0.0:1.0	.	171;171	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	A	171	ENSP00000356451:V171A;ENSP00000441479:V171A;ENSP00000321826:V171A;ENSP00000356450:V171A	ENSP00000321826:V171A	V	+	2	0	STXBP5	147623524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.071000	0.62044	0.533000	0.62120	GTG		0.383	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			73	308	0	0	0	1	0	73	308				
KSR1	8844	broad.mit.edu	37	17	25937132	25937132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25937132C>T	ENST00000319524.6	+	18	2331	c.2331C>T	c.(2329-2331)tgC>tgT	p.C777C	KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000582410.1_5'UTR|KSR1_ENST00000398988.3_Silent_p.C640C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACTGGCTGTGCTATCTGGCCC	0.577											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1918-1920)tgC>tgT		kinase suppressor of ras 1							93.0	97.0	96.0					17																	25937132		2029	4194	6223	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25937132C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2331C>T	17.37:g.25937132C>T			OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	782	KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000319524.6_Silent_p.C777C|KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000582410.1_5'UTR	p.C640C	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	19	2365	+	Lung NSC(42;0.00836)		775			Protein kinase.		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1920C>T																																																																																					0.577	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		93	501	0	0	0	1	0	93	501				
KIRREL2	84063	broad.mit.edu	37	19	36348369	36348369	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36348369G>A	ENST00000360202.5	+	2	382	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGTGGGCTGGCCCTAGGGGG	0.647																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(184-186)Gcc>Acc		kin of IRRE like 2 (Drosophila)							44.0	52.0	49.0					19																	36348369		2203	4298	6501	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36348369G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.184G>A	19.37:g.36348369G>A	ENSP00000353331:p.Ala62Thr					KIRREL2_ENST00000586102.2_Missense_Mutation_p.A62T|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T	p.A62T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	382	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		62			Ig-like C2-type 1.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.184G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061013	0.93846	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658	T;T	0.67171	-0.25;-0.25	5.35	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000215	T	0.75679	0.3882	L	0.58354	1.805	0.36210	D	0.85129	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.987;0.987;0.978	T	0.80520	-0.1346	10	0.87932	D	0	-14.889	9.3277	0.38003	0.0961:0.0:0.9039:0.0	.	62;62;62	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	T	62	ENSP00000262625:A62T;ENSP00000353331:A62T	ENSP00000262625:A62T	A	+	1	0	KIRREL2	41040209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.156000	0.71840	2.672000	0.90937	0.650000	0.86243	GCC		0.647	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		112	467	0	0	0	1	0	112	467				
ATP10A	57194	broad.mit.edu	37	15	26026197	26026197	+	Missense_Mutation	SNP	C	C	T	rs539032579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26026197C>T	ENST00000356865.6	-	2	734	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	208					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R208Q(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACCTGCCGCCGCTTCAGGTT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		16301	0.0		0.0	False		,,,				2504	0.001					ENST00000356865.6																			1	Substitution - Missense(1)	p.R208Q(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(622-624)cGg>cAg		ATPase, class V, type 10A							72.0	74.0	74.0					15																	26026197		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026197C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.623G>A	15.37:g.26026197C>T	ENSP00000349325:p.Arg208Gln						p.R208Q	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	2	734	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	208					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.623G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839056	0.16891	.	.	ENSG00000206190	ENST00000356865	D	0.90385	-2.66	4.67	3.67	0.42095	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121989	0.56097	D	0.000034	T	0.55862	0.1947	N	0.00082	-2.215	0.38704	D	0.953065	B	0.11235	0.004	B	0.09377	0.004	T	0.66803	-0.5831	10	0.02654	T	1	-29.3942	4.2405	0.10645	0.0:0.7173:0.0:0.2827	.	208	O60312	AT10A_HUMAN	Q	208	ENSP00000349325:R208Q	ENSP00000349325:R208Q	R	-	2	0	ATP10A	23577290	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.672000	0.54583	2.428000	0.82296	0.561000	0.74099	CGG		0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		19	439	0	0	0	1	0	19	439				
MAP4K1	11184	broad.mit.edu	37	19	39090764	39090764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39090764C>T	ENST00000591517.1	-	21	1589	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	521	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGAAGATGCCTTCCTCTGCC	0.632																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1561-1563)Ggc>Agc		mitogen-activated protein kinase kinase kinase kinase 1							51.0	54.0	53.0					19																	39090764		2060	4195	6255	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090764C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1561G>A	19.37:g.39090764C>T	ENSP00000465039:p.Gly521Ser					MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	p.G521S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	1589	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		521			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1561G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	33	5.253734	0.95336	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.25085	1.82;1.82	4.93	4.93	0.64822	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.80183	2.485	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.58713	-0.7588	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	183;521;521	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	S	521;521;183	ENSP00000380066:G521S;ENSP00000396383:G183S	ENSP00000221409:G521S	G	-	1	0	MAP4K1	43782604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.603000	0.67619	2.578000	0.87016	0.555000	0.69702	GGC		0.632	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		52	221	0	0	0	1	0	52	221				
POLR2B	5431	broad.mit.edu	37	4	57876529	57876529	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57876529G>A	ENST00000381227.1	+	12	1820	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.V394V|POLR2B_ENST00000314595.5_Silent_p.V469V|POLR2B_ENST00000441246.2_Silent_p.V462V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	469					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTTCTAGGTGTTAAACCGCC	0.373																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1405-1407)gtG>gtA		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							114.0	121.0	119.0					4																	57876529		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876529G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1407G>A	4.37:g.57876529G>A						POLR2B_ENST00000441246.2_Silent_p.V462V|POLR2B_ENST00000431623.2_Silent_p.V394V|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Silent_p.V469V	p.V469V			P30876	RPB2_HUMAN			12	1820	+	Glioma(25;0.08)|all_neural(26;0.181)		469					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.1407G>A	CCDS3511.1																																																																																				0.373	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		62	769	0	0	0	1	0	62	769				
IQSEC3	440073	broad.mit.edu	37	12	176596	176596	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:176596G>T	ENST00000538872.1	+	1	666	c.548G>T	c.(547-549)aGa>aTa	p.R183I	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	183					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTGAGCAGGAGACCTGAGTGA	0.647																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(547-549)aGa>aTa		IQ motif and Sec7 domain 3							27.0	36.0	33.0					12																	176596		1568	3582	5150	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:176596G>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.548G>T	12.37:g.176596G>T	ENSP00000437554:p.Arg183Ile					IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I	p.R183I			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	666	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		183					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.548G>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	g	16.82	3.227833	0.58777	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.10192	2.9;2.9	4.28	4.28	0.50868	.	7.977520	0.00166	N	0.000000	T	0.20618	0.0496	L	0.51422	1.61	0.47994	D	0.999564	.	.	.	.	.	.	T	0.17899	-1.0354	8	0.46703	T	0.11	.	7.9494	0.30006	0.1103:0.0:0.8897:0.0	.	.	.	.	I	183	ENSP00000437554:R183I;ENSP00000315662:R183I	ENSP00000315662:R183I	R	+	2	0	IQSEC3	46857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.725000	0.68507	2.187000	0.69744	0.561000	0.74099	AGA		0.647	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		18	124	1	0	1.50039e-11	1	1.60151e-11	18	124				
LAMA2	3908	broad.mit.edu	37	6	129781471	129781471	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129781471T>C	ENST00000421865.2	+	49	7041		c.e49+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACTGTCAGGTTAGTTGAGAT	0.408																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e49+2		laminin, alpha 2							85.0	80.0	82.0					6																	129781471		2203	4299	6502	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129781471T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6992+2T>C	6.37:g.129781471T>C								NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	49	7041	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37		CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685813	0.68157	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4338	0.83864	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129823164	1.000000	0.71417	0.949000	0.38748	0.500000	0.33767	7.694000	0.84235	2.270000	0.75569	0.533000	0.62120	.		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	81	353	0	0	0	1	0	81	353				
PNPT1	87178	broad.mit.edu	37	2	55871818	55871818	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55871818A>T	ENST00000447944.2	-	23	1946	c.1860T>A	c.(1858-1860)ttT>ttA	p.F620L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	620	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGTCCAACAAATTTTGCTC	0.333																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(1858-1860)ttT>ttA		polyribonucleotide nucleotidyltransferase 1							78.0	79.0	79.0					2																	55871818		2203	4298	6501	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55871818A>T	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1860T>A	2.37:g.55871818A>T	ENSP00000400646:p.Phe620Leu						p.F620L	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		23	1946	-			620			KH.		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1860T>A	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	6.372	0.436695	0.12104	.	.	ENSG00000138035	ENST00000447944	T	0.22134	1.97	5.97	3.64	0.41730	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	N	0.11427	0.14	0.53005	D	0.999963	B	0.14012	0.009	B	0.23716	0.048	T	0.07809	-1.0753	10	0.87932	D	0	-27.5943	8.8176	0.35004	0.7663:0.0:0.2337:0.0	.	620	Q8TCS8	PNPT1_HUMAN	L	620	ENSP00000400646:F620L	ENSP00000393953:F620L	F	-	3	2	PNPT1	55725322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.121000	0.50438	0.531000	0.28639	-0.250000	0.11733	TTT		0.333	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		56	318	0	0	0	1	0	56	318				
ABCC8	6833	broad.mit.edu	37	11	17496471	17496471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17496471G>A	ENST00000389817.3	-	2	320	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ABCC8_ENST00000302539.4_Silent_p.V84V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	84					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACACACCAGGACGAAGAGCA	0.557																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(250-252)gtC>gtT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						215.0	149.0	171.0					11																	17496471		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17496471G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.252C>T	11.37:g.17496471G>A						ABCC8_ENST00000389817.3_Silent_p.V84V	p.V84V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	2	377	-			84					A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.252C>T	CCDS31437.1																																																																																				0.557	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		48	236	0	0	0	1	0	48	236				
KLHL22	84861	broad.mit.edu	37	22	20843290	20843290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20843290G>A	ENST00000328879.4	-	2	365	c.209C>T	c.(208-210)gCg>gTg	p.A70V	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCGCAGGACGCAGCCAGCAG	0.552																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(208-210)gCg>gTg		kelch-like family member 22							57.0	45.0	49.0					22																	20843290		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20843290G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.209C>T	22.37:g.20843290G>A	ENSP00000331682:p.Ala70Val					KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	p.A70V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		2	365	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	70			BTB.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.209C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.041455	0.55003	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89986	0.4104	10	0.87932	D	0	.	16.1034	0.81203	0.0:0.0:1.0:0.0	.	70	Q53GT1	KLH22_HUMAN	V	70;102;70;104;70;102	ENSP00000331682:A70V;ENSP00000403999:A102V;ENSP00000398616:A70V;ENSP00000397882:A104V;ENSP00000409092:A70V;ENSP00000402746:A102V	ENSP00000331682:A70V	A	-	2	0	KLHL22	19173290	1.000000	0.71417	0.636000	0.29352	0.029000	0.11900	9.123000	0.94387	2.406000	0.81754	0.550000	0.68814	GCG		0.552	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		24	172	0	0	0	1	0	24	172				
EIF4B	1975	broad.mit.edu	37	12	53421816	53421816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421816G>T	ENST00000262056.9	+	8	1149	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	EIF4B_ENST00000420463.3_Missense_Mutation_p.G275C|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	275	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCCCGGATAGGCAGTGGCAG	0.473																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(823-825)Ggc>Tgc		eukaryotic translation initiation factor 4B							89.0	92.0	91.0					12																	53421816		1880	4117	5997	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421816G>T	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.823G>T	12.37:g.53421816G>T	ENSP00000262056:p.Gly275Cys					EIF4B_ENST00000420463.3_Missense_Mutation_p.G275C|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C	p.G275C	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			8	1149	+			275			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.823G>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200477	0.58126	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.57907	0.37;0.43;0.47;0.58	4.48	4.48	0.54585	.	0.062947	0.64402	D	0.000005	T	0.69735	0.3144	M	0.65498	2.005	0.51012	D	0.999909	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	T	0.72462	-0.4286	10	0.59425	D	0.04	.	14.7482	0.69505	0.0:0.0:1.0:0.0	.	236;275;251;275	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	275;275;251;236;230;229	ENSP00000262056:G275C;ENSP00000388806:G275C;ENSP00000449746:G230C;ENSP00000450324:G229C	ENSP00000262056:G275C	G	+	1	0	EIF4B	51708083	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.337000	0.65941	2.409000	0.81822	0.655000	0.94253	GGC		0.473	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		24	530	1	0	9.90768e-06	1	1.01656e-05	24	530				
ZNF804A	91752	broad.mit.edu	37	2	185802746	185802746	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185802746T>G	ENST00000302277.6	+	4	3217	c.2623T>G	c.(2623-2625)Tta>Gta	p.L875V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	875							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACAAACCAATTAAGAAACAA	0.363																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2623-2625)Tta>Gta		zinc finger protein 804A							87.0	80.0	82.0					2																	185802746		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802746T>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2623T>G	2.37:g.185802746T>G	ENSP00000303252:p.Leu875Val						p.L875V	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3217	+			875					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2623T>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.259109	0.00021	.	.	ENSG00000170396	ENST00000302277	T	0.05786	3.39	5.42	1.27	0.21489	.	1.099100	0.07006	N	0.824313	T	0.01940	0.0061	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45542	-0.9254	10	0.06625	T	0.88	-1.0291	1.7147	0.02899	0.1615:0.1326:0.4125:0.2934	.	875	Q7Z570	Z804A_HUMAN	V	875	ENSP00000303252:L875V	ENSP00000303252:L875V	L	+	1	2	ZNF804A	185510991	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.345000	0.19979	0.234000	0.21139	-0.452000	0.05504	TTA		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		40	446	0	0	0	1	0	40	446				
PLXNA3	55558	broad.mit.edu	37	X	153697552	153697552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153697552G>A	ENST00000369682.3	+	26	4763	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1530					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGACATGGACCTGGGTGA	0.602																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4588-4590)Gac>Aac		plexin A3							73.0	59.0	64.0					X																	153697552		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697552G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4588G>A	X.37:g.153697552G>A	ENSP00000358696:p.Asp1530Asn					PLXNA3_ENST00000493546.1_3'UTR	p.D1530N	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			26	4763	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1530					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4588G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722944	0.89298	.	.	ENSG00000130827	ENST00000369682	T	0.13901	2.55	5.35	4.48	0.54585	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.111765	0.64402	D	0.000016	T	0.44973	0.1319	M	0.91717	3.235	0.80722	D	1	D	0.64830	0.994	D	0.70935	0.971	T	0.56715	-0.7933	10	0.87932	D	0	.	13.9752	0.64268	0.0:0.1493:0.8507:0.0	.	1530	P51805	PLXA3_HUMAN	N	1530	ENSP00000358696:D1530N	ENSP00000358696:D1530N	D	+	1	0	PLXNA3	153350746	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.857000	0.99534	1.005000	0.39183	0.597000	0.82753	GAC		0.602	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		70	267	0	0	0	1	0	70	267				
C19orf73	55150	broad.mit.edu	37	19	49621899	49621899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49621899G>A	ENST00000408991.2	-	1	498	c.381C>T	c.(379-381)ccC>ccT	p.P127P	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	127										large_intestine(1)|lung(2)	3						ACTAGTCCGAGGGCGGAGGGC	0.597																																						ENST00000408991.2																			0				large_intestine(1)|lung(2)	3						c.(379-381)ccC>ccT		chromosome 19 open reading frame 73							51.0	59.0	56.0					19																	49621899		2072	4180	6252	SO:0001819	synonymous_variant	55150							g.chr19:49621899G>A	AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.381C>T	19.37:g.49621899G>A							p.P127P	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN			1	498	-			127					Q6NSX4	Silent	SNP	ENST00000408991.2	37	c.381C>T	CCDS42589.1																																																																																				0.597	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1	NM_018111		22	581	0	0	0	1	0	22	581				
COL12A1	1303	broad.mit.edu	37	6	75844551	75844551	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844551C>A	ENST00000322507.8	-	32	5724	c.5415G>T	c.(5413-5415)caG>caT	p.Q1805H	COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1805	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCACACTGTTCTGCCGTCCTC	0.478																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5413-5415)caG>caT		collagen, type XII, alpha 1							128.0	131.0	130.0					6																	75844551		1983	4148	6131	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75844551C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5415G>T	6.37:g.75844551C>A	ENSP00000325146:p.Gln1805His					COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H	p.Q1805H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			32	5724	-			1805			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5415G>T	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.251718|3.251718	0.59212|0.59212	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.8|5.8	3.06|3.06	0.35304|0.35304	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.48714	.|0.1515	L|L	0.50993|0.50993	1.605|1.605	0.34862|0.34862	D|D	0.742689|0.742689	.|D;D	.|0.69078	.|0.996;0.997	.|P;D	.|0.64410	.|0.878;0.925	.|T	.|0.49597	.|-0.8923	.|10	.|0.36615	.|T	.|0.2	.|.	10.5114|10.5114	0.44864|0.44864	0.0:0.7372:0.0:0.2628|0.0:0.7372:0.0:0.2628	.|.	.|641;1805	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	X|H	540|1805;1805;641;1805;1805	.|ENSP00000325146:Q1805H;ENSP00000305147:Q641H;ENSP00000412864:Q1805H;ENSP00000421216:Q1805H	.|ENSP00000325146:Q1805H	E|Q	-|-	1|3	0|2	COL12A1|COL12A1	75901271|75901271	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	0.621000|0.621000	0.24418|0.24418	0.805000|0.805000	0.34159|0.34159	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.478	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		73	278	1	0	1.32218e-49	1	1.6358e-49	73	278				
EIF5B	9669	broad.mit.edu	37	2	99980843	99980843	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99980843G>T	ENST00000289371.6	+	6	1449	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	416					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGAAGCCAGAGCCAGAGCC	0.398																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1246-1248)aGa>aTa		eukaryotic translation initiation factor 5B							133.0	134.0	134.0					2																	99980843		1859	4099	5958	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99980843G>T	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1247G>T	2.37:g.99980843G>T	ENSP00000289371:p.Arg416Ile						p.R416I	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			6	1449	+			416					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1247G>T	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617668	0.87359	.	.	ENSG00000158417	ENST00000289371	T	0.51071	0.72	5.9	4.06	0.47325	.	.	.	.	.	T	0.51244	0.1663	M	0.79926	2.475	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.58070	-0.7701	8	.	.	.	-10.0582	12.1601	0.54099	0.0656:0.1197:0.8148:0.0	.	416	O60841	IF2P_HUMAN	I	416	ENSP00000289371:R416I	.	R	+	2	0	EIF5B	99347275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.325000	0.65869	1.488000	0.48433	0.650000	0.86243	AGA		0.398	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		101	554	1	0	1.11883e-47	1	1.37812e-47	101	554				
PLCE1	51196	broad.mit.edu	37	10	96076504	96076504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96076504C>T	ENST00000371380.3	+	28	6568	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	PLCE1_ENST00000371385.3_Silent_p.T1803T|NOC3L_ENST00000543788.1_Intron|RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000260766.3_Silent_p.T2111T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2111	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTTAAAAACCCAGCAGGAAG	0.443																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(6331-6333)acC>acT		phospholipase C, epsilon 1							69.0	69.0	69.0					10																	96076504		1902	4108	6010	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96076504C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6333C>T	10.37:g.96076504C>T						NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371380.2_Silent_p.T2111T|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000371385.3_Silent_p.T1803T	p.T2111T	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			29	6967	+		Colorectal(252;0.0458)	2111			Ras-associating 1.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.6333C>T	CCDS41552.1																																																																																				0.443	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		28	138	0	0	0	1	0	28	138				
PAX2	5076	broad.mit.edu	37	10	102509502	102509502	+	Splice_Site	SNP	G	G	A	rs74550754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509502G>A	ENST00000428433.1	+	2	593		c.e2-1		PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000370296.2_Splice_Site|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000355243.3_Splice_Site	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2						aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCTCTCCCCAGCAGGGCACGG	0.672																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.e2-1		paired box 2							28.0	32.0	31.0					10																	102509502		2197	4284	6481	SO:0001630	splice_region_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509502G>A		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.44-1G>A	10.37:g.102509502G>A						PAX2_ENST00000355243.3_Splice_Site|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000428433.1_Splice_Site|PAX2_ENST00000553492.1_Intron				Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	593	+		Colorectal(252;0.234)						Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Splice_Site	SNP	ENST00000428433.1	37		CCDS53569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.23|19.23	3.787798|3.787798	0.70337|0.70337	.|.	.|.	ENSG00000075891|ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000427256|ENST00000554172	.|D	.|0.97906	.|-4.6	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97952	.|0.9326	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97814	.|1.0252	.|5	.|.	.|.	.|.	.|.	15.4423|15.4423	0.75195|0.75195	0.0659:0.0:0.9341:0.0|0.0659:0.0:0.9341:0.0	.|.	.|.	.|.	.|.	.|T	-1|19	.|ENSP00000452489:A19T	.|.	.|A	+|+	.|1	.|0	PAX2|PAX2	102499492|102499492	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	.|.	.|.	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	.|GCA		0.672	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			Intron	70	287	0	0	0	1	0	70	287				
LAMC1	3915	broad.mit.edu	37	1	183093910	183093910	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183093910G>A	ENST00000258341.4	+	14	2803	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	849	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACGGGAGAATGCCTGAAGTGC	0.502																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2545-2547)tGc>tAc		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						107.0	91.0	97.0					1																	183093910		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183093910G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2546G>A	1.37:g.183093910G>A	ENSP00000258341:p.Cys849Tyr						p.C849Y	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			14	2803	+			849			Laminin EGF-like 8.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2546G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709702	0.89018	.	.	ENSG00000135862	ENST00000258341	D	0.94330	-3.4	5.51	5.51	0.81932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99701	1.1004	10	0.87932	D	0	.	19.0104	0.92871	0.0:0.0:1.0:0.0	.	849	P11047	LAMC1_HUMAN	Y	849	ENSP00000258341:C849Y	ENSP00000258341:C849Y	C	+	2	0	LAMC1	181360533	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	9.135000	0.94478	2.587000	0.87381	0.650000	0.86243	TGC		0.502	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	295	0	0	0	1	0	8	295				
BAGE2	85319	broad.mit.edu	37	21	11098737	11098737	+	RNA	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11098737T>A	ENST00000470054.1	-	0	188							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccggccgccatcttactgctc	0.637																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							104.0	151.0	135.0					21																	11098737		2128	4264	6392			85319							g.chr21:11098737T>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098737T>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	188	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.637	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		21	1229	0	0	0	1	0	21	1229				
ZBTB21	49854	broad.mit.edu	37	21	43411126	43411126	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411126G>T	ENST00000310826.5	-	3	3262	c.3079C>A	c.(3079-3081)Ctt>Att	p.L1027I	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L826I|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L1027I|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L1027I	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1027					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TGGTAAAAAAGGGTGTCTGAT	0.483																																						ENST00000310826.5																			0											c.(3079-3081)Ctt>Att		zinc finger and BTB domain containing 21							105.0	108.0	107.0					21																	43411126		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411126G>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.3079C>A	21.37:g.43411126G>T	ENSP00000308759:p.Leu1027Ile					ZBTB21_ENST00000398511.3_Missense_Mutation_p.L1027I|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L1027I|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L826I	p.L1027I	NM_001098402.1	NP_001091872.1					3	3262	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.3079C>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114235	0.77210	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.01629	4.72;4.72;4.72;4.72	5.07	5.07	0.68467	.	0.000000	0.64402	U	0.000011	T	0.06234	0.0161	L	0.29908	0.895	0.54753	D	0.999981	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.991	T	0.53049	-0.8493	10	0.46703	T	0.11	-12.8027	18.454	0.90713	0.0:0.0:1.0:0.0	.	826;1027	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	I	826;1027;1027;1027	ENSP00000381517:L826I;ENSP00000308759:L1027I;ENSP00000381512:L1027I;ENSP00000381523:L1027I	ENSP00000308759:L1027I	L	-	1	0	ZNF295	42284195	1.000000	0.71417	0.412000	0.26496	0.996000	0.88848	6.231000	0.72307	2.353000	0.79882	0.655000	0.94253	CTT		0.483	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		92	341	1	0	3.83285e-27	1	4.43296e-27	92	341				
SLC1A6	6511	broad.mit.edu	37	19	15063766	15063766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063766C>T	ENST00000221742.3	-	8	1480	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	SLC1A6_ENST00000430939.2_Silent_p.T427T|SLC1A6_ENST00000600144.1_Silent_p.T413T	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	491					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CAATGATGAGCGTGATGTCTT	0.607																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1279-1281)acG>acA		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						199.0	150.0	167.0					19																	15063766		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15063766C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1473G>A	19.37:g.15063766C>T						SLC1A6_ENST00000600144.1_Silent_p.T413T|SLC1A6_ENST00000221742.3_Silent_p.T491T	p.T427T			P48664	EAA4_HUMAN			8	1410	-			491					Q8N753	Silent	SNP	ENST00000221742.3	37	c.1281G>A	CCDS12321.1																																																																																				0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		93	502	0	0	0	1	0	93	502				
ZC3HAV1	56829	broad.mit.edu	37	7	138768566	138768566	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138768566G>A	ENST00000242351.5	-	3	973	c.657C>T	c.(655-657)tgC>tgT	p.C219C	ZC3HAV1_ENST00000471652.1_Silent_p.C219C|ZC3HAV1_ENST00000464606.1_Silent_p.C219C	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	219	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCTTGCTGTTGCAGATGTCCT	0.493																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(655-657)tgC>tgT		zinc finger CCCH-type, antiviral 1							81.0	67.0	72.0					7																	138768566		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138768566G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.657C>T	7.37:g.138768566G>A						ZC3HAV1_ENST00000464606.1_Silent_p.C219C|ZC3HAV1_ENST00000471652.1_Silent_p.C219C	p.C219C	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			3	973	-			219					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.657C>T	CCDS5851.1																																																																																				0.493	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		55	275	0	0	0	1	0	55	275				
IL6ST	3572	broad.mit.edu	37	5	55237336	55237336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237336G>A	ENST00000381298.2	-	17	2643	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	IL6ST_ENST00000336909.5_Silent_p.F777F|IL6ST_ENST00000381294.3_Silent_p.F716F|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Silent_p.F777F|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	777					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGATCTTGAGAAGACTTGGA	0.463			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2329-2331)ttC>ttT		interleukin 6 signal transducer (gp130, oncostatin M receptor)							126.0	126.0	126.0					5																	55237336		2203	4300	6503	SO:0001819	synonymous_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237336G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2331C>T	5.37:g.55237336G>A						CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000502326.3_Silent_p.F777F|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.F777F|IL6ST_ENST00000381294.3_Silent_p.F716F|IL6ST_ENST00000381287.4_3'UTR	p.F777F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2643	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	777					A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	c.2331C>T	CCDS3971.1																																																																																				0.463	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		101	459	0	0	0	1	0	101	459				
ST8SIA1	6489	broad.mit.edu	37	12	22486947	22486947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22486947C>T	ENST00000396037.4	-	1	701	c.220G>A	c.(220-222)Gcg>Acg	p.A74T	ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	74					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCTGGCCGCGGTCTGGTTC	0.652																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(220-222)Gcg>Acg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							61.0	59.0	59.0					12																	22486947		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22486947C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.220G>A	12.37:g.22486947C>T	ENSP00000379353:p.Ala74Thr					ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000539510.1_5'UTR	p.A74T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			1	701	-			74					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.220G>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371959	0.42003	.	.	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.66460	-0.21;-0.21	4.45	3.53	0.40419	.	0.118546	0.56097	D	0.000031	T	0.55242	0.1908	L	0.48642	1.525	0.80722	D	1	P	0.42248	0.774	B	0.35312	0.2	T	0.59188	-0.7501	10	0.56958	D	0.05	-7.0017	11.121	0.48289	0.192:0.808:0.0:0.0	.	74	Q92185	SIA8A_HUMAN	T	74;51;74;74	ENSP00000379353:A74T;ENSP00000440292:A51T	ENSP00000261197:A74T	A	-	1	0	ST8SIA1	22378214	0.999000	0.42202	0.979000	0.43373	0.973000	0.67179	4.695000	0.61767	1.131000	0.42111	0.563000	0.77884	GCG		0.652	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		84	353	0	0	0	1	0	84	353				
PCMTD2	55251	broad.mit.edu	37	20	62895791	62895791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62895791G>A	ENST00000308824.6	+	3	444	c.317G>A	c.(316-318)gGt>gAt	p.G106D	PCMTD2_ENST00000369758.4_Missense_Mutation_p.G106D|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	106						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGTCCTTTTGGTGTGAACCAT	0.388																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(316-318)gGt>gAt		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							135.0	114.0	121.0					20																	62895791		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62895791G>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.317G>A	20.37:g.62895791G>A	ENSP00000307854:p.Gly106Asp					PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D|PCMTD2_ENST00000369758.3_Missense_Mutation_p.G106D	p.G106D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			3	444	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		106					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.317G>A	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.439190	0.83885	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	T;T;T	0.53857	0.6;0.6;0.6	5.49	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77161	-0.2689	10	0.87932	D	0	-32.6802	14.6817	0.69023	0.0711:0.0:0.9289:0.0	.	106;106	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	D	106	ENSP00000358773:G106D;ENSP00000299468:G106D;ENSP00000307854:G106D	ENSP00000299468:G106D	G	+	2	0	PCMTD2	62366235	1.000000	0.71417	0.994000	0.49952	0.859000	0.49053	8.896000	0.92521	2.589000	0.87451	0.655000	0.94253	GGT		0.388	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		42	193	0	0	0	1	0	42	193				
SLC6A11	6538	broad.mit.edu	37	3	10974869	10974869	+	Silent	SNP	C	C	A	rs139042454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10974869C>A	ENST00000254488.2	+	11	1470	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	468					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTTTGACTCCTATGCCGCCA	0.592																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1402-1404)tcC>tcA		solute carrier family 6 (neurotransmitter transporter), member 11							226.0	182.0	197.0					3																	10974869		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10974869C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1404C>A	3.37:g.10974869C>A							p.S468S	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	11	1470	+			468					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1404C>A	CCDS2602.1																																																																																				0.592	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		92	484	1	0	2.28585e-32	1	2.69878e-32	92	484				
SYT7	9066	broad.mit.edu	37	11	61295552	61295552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61295552T>C	ENST00000263846.4	-	5	784	c.457A>G	c.(457-459)Acc>Gcc	p.T153A	SYT7_ENST00000542670.1_Missense_Mutation_p.T361A|SYT7_ENST00000535826.1_Missense_Mutation_p.T272A|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	153	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTTCACGGTGAGCGTGGAC	0.617																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(457-459)Acc>Gcc		synaptotagmin VII							76.0	80.0	78.0					11																	61295552		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61295552T>C	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.457A>G	11.37:g.61295552T>C	ENSP00000263846:p.Thr153Ala					SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.T361A|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A|SYT7_ENST00000535826.1_Missense_Mutation_p.T272A	p.T153A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			5	784	-			153			C2 1.		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.457A>G	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101750	0.76983	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.045776	0.85682	D	0.000000	T	0.68439	0.3001	L	0.52573	1.65	0.58432	D	0.999999	B;B	0.26318	0.12;0.146	B;B	0.42771	0.342;0.397	T	0.63260	-0.6677	10	0.19147	T	0.46	.	14.4057	0.67081	0.0:0.0:0.0:1.0	.	228;153	F5GZU9;O43581	.;SYT7_HUMAN	A	153;228;436;197;361;272;153	ENSP00000263846:T153A;ENSP00000444201:T228A;ENSP00000439694:T436A;ENSP00000444568:T197A;ENSP00000444019:T361A;ENSP00000437720:T272A;ENSP00000443576:T153A	ENSP00000263846:T153A	T	-	1	0	SYT7	61052128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.249000	0.72427	1.960000	0.56953	0.459000	0.35465	ACC		0.617	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		40	513	0	0	0	1	0	40	513				
NPHP4	261734	broad.mit.edu	37	1	6046333	6046333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046333C>T	ENST00000378156.4	-	2	282	c.17G>A	c.(16-18)aGg>aAg	p.R6K	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	6					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAAGATCCTGTGCCAGTC	0.577																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(16-18)aGg>aAg		nephronophthisis 4							57.0	61.0	59.0					1																	6046333		2019	4172	6191	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6046333C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.17G>A	1.37:g.6046333C>T	ENSP00000367398:p.Arg6Lys					NPHP4_ENST00000478423.2_Intron	p.R6K	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	2	282	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	6					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.17G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	7.776	0.708515	0.15239	.	.	ENSG00000131697	ENST00000378156	D	0.86297	-2.1	5.41	-2.07	0.07276	.	1.197840	0.06089	N	0.663313	T	0.80859	0.4704	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60929	-0.7165	10	0.14656	T	0.56	.	11.3369	0.49509	0.0:0.3751:0.0:0.6249	.	6	O75161	NPHP4_HUMAN	K	6	ENSP00000367398:R6K	ENSP00000367398:R6K	R	-	2	0	NPHP4	5968920	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-0.822000	0.04448	-0.338000	0.08413	-0.136000	0.14681	AGG		0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			17	108	0	0	0	1	0	17	108				
SCNN1B	6338	broad.mit.edu	37	16	23364329	23364329	+	Silent	SNP	C	C	A	rs201804824		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23364329C>A	ENST00000343070.2	+	3	695	c.519C>A	c.(517-519)ggC>ggA	p.G173G	SCNN1B_ENST00000568085.1_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G|SCNN1B_ENST00000568923.1_Silent_p.G173G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	173					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCACAATGGCTTAACAAGCA	0.502																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32	GRCh37	CI994507	SCNN1B	I		c.(517-519)ggC>ggA		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						152.0	132.0	138.0					16																	23364329		2197	4300	6497	SO:0001819	synonymous_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23364329C>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.519C>A	16.37:g.23364329C>A						SCNN1B_ENST00000568085.1_Silent_p.G173G|SCNN1B_ENST00000568923.1_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G	p.G173G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	695	+			173					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.519C>A	CCDS10609.1																																																																																				0.502	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			112	509	1	0	8.74965e-44	1	1.06917e-43	112	509				
TMEM132D	121256	broad.mit.edu	37	12	130185134	130185134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185134C>A	ENST00000422113.2	-	2	515	c.189G>T	c.(187-189)aaG>aaT	p.K63N	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	63					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTTGGCCTCCTTCAGGAAGA	0.552																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(187-189)aaG>aaT		transmembrane protein 132D							81.0	65.0	71.0					12																	130185134		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130185134C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.189G>T	12.37:g.130185134C>A	ENSP00000408581:p.Lys63Asn						p.K63N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	515	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	63					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.189G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594132	0.66219	.	.	ENSG00000151952	ENST00000422113	T	0.12879	2.64	5.33	2.5	0.30297	.	0.000000	0.64402	D	0.000007	T	0.35970	0.0950	M	0.85373	2.75	0.37480	D	0.915953	D	0.71674	0.998	D	0.69142	0.962	T	0.44802	-0.9304	9	.	.	.	-41.0956	10.0937	0.42462	0.0:0.738:0.0:0.262	.	63	Q14C87	T132D_HUMAN	N	63	ENSP00000408581:K63N	.	K	-	3	2	TMEM132D	128751087	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.629000	0.24538	1.239000	0.43787	0.555000	0.69702	AAG		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		46	185	1	0	5.48756e-27	1	6.34209e-27	46	185				
PTBP1	5725	broad.mit.edu	37	19	807883	807883	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:807883A>C	ENST00000349038.4	+	10	1129	c.1056A>C	c.(1054-1056)caA>caC	p.Q352H	PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H|PTBP1_ENST00000356948.6_Missense_Mutation_p.Q378H|PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	352	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACACCCCAAAGCCTCTTTA	0.468																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1132-1134)caA>caC		polypyrimidine tract binding protein 1							222.0	199.0	207.0					19																	807883		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:807883A>C	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1056A>C	19.37:g.807883A>C	ENSP00000014112:p.Gln352His					PTBP1_ENST00000349038.4_Missense_Mutation_p.Q352H|PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H	p.Q378H	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1557	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	352			RRM 3.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.1134A>C	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642587	0.29246	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.44083	0.93;3.32;1.23;1.49	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.246333	0.41938	D	0.000782	T	0.36853	0.0982	L	0.42487	1.325	0.54753	D	0.99998	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.13407	0.002;0.004;0.009;0.004	T	0.11690	-1.0577	10	0.31617	T	0.26	-7.9015	14.4771	0.67554	1.0:0.0:0.0:0.0	.	18;352;371;378	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	H	378;371;352;18	ENSP00000349428:Q378H;ENSP00000408096:Q371H;ENSP00000014112:Q352H;ENSP00000342332:Q18H	ENSP00000014112:Q352H	Q	+	3	2	PTBP1	758883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.419000	0.59835	2.006000	0.58801	0.528000	0.53228	CAA		0.468	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			135	725	0	0	0	1	0	135	725				
EPC1	80314	broad.mit.edu	37	10	32635840	32635840	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32635840T>C	ENST00000263062.8	-	1	273	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	RP11-135A24.2_ENST00000417447.1_RNA|EPC1_ENST00000375110.2_Intron|RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.S2G|AL391839.1_ENST00000410377.1_RNA|EPC1_ENST00000480402.1_5'UTR	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	2					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GACAGTTTACTCATCTCAGGC	0.642																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(4-6)Agt>Ggt		enhancer of polycomb homolog 1 (Drosophila)							38.0	41.0	40.0					10																	32635840		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32635840T>C	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.4A>G	10.37:g.32635840T>C	ENSP00000263062:p.Ser2Gly					EPC1_ENST00000263062.8_Missense_Mutation_p.S2G|RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000480402.1_5'UTR|AL391839.1_ENST00000410377.1_RNA|EPC1_ENST00000375110.2_Intron	p.S2G	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			1	306	-		Prostate(175;0.0199)	2					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.4A>G	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967458	0.92855	.	.	ENSG00000120616	ENST00000319778;ENST00000263062	.	.	.	4.7	4.7	0.59300	.	0.087777	0.85682	D	0.000000	T	0.76414	0.3984	M	0.66939	2.045	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.907	T	0.79412	-0.1814	9	0.87932	D	0	-8.3521	13.3215	0.60436	0.0:0.0:0.0:1.0	.	2;2	Q9H2F5-2;Q9H2F5	.;EPC1_HUMAN	G	2	.	ENSP00000263062:S2G	S	-	1	0	EPC1	32675846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.945000	0.75947	1.739000	0.51704	0.418000	0.28097	AGT		0.642	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			61	240	0	0	0	1	0	61	240				
MAPK6	5597	broad.mit.edu	37	15	52338767	52338767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338767C>T	ENST00000261845.5	+	2	917	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTTTTTCTGCTGTAGACAAT	0.378																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(109-111)gCt>gTt		mitogen-activated protein kinase 6							117.0	118.0	118.0					15																	52338767		2195	4293	6488	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52338767C>T	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.110C>T	15.37:g.52338767C>T	ENSP00000261845:p.Ala37Val						p.A37V	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	2	917	+			37			Protein kinase.		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.110C>T	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588654	0.86851	.	.	ENSG00000069956	ENST00000261845	T	0.55413	0.52	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.66618	-0.5878	10	0.56958	D	0.05	-17.1548	18.7507	0.91814	0.0:1.0:0.0:0.0	.	37	Q16659	MK06_HUMAN	V	37	ENSP00000261845:A37V	ENSP00000261845:A37V	A	+	2	0	MAPK6	50126059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.445000	0.82738	0.650000	0.86243	GCT		0.378	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		27	637	0	0	0	1	0	27	637				
SYNE1	23345	broad.mit.edu	37	6	152676008	152676008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152676008G>A	ENST00000367255.5	-	67	11313	c.10712C>T	c.(10711-10713)gCt>gTt	p.A3571V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3571					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACTCTAAAGCCCGGTCCTC	0.547										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10711-10713)gCt>gTt		spectrin repeat containing, nuclear envelope 1							130.0	134.0	132.0					6																	152676008		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152676008G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10712C>T	6.37:g.152676008G>A	ENSP00000356224:p.Ala3571Val	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V	p.A3571V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11313	-		Ovarian(120;0.0955)	3571					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10712C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500083	0.26861	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50813	0.73;1.37;0.73;1.37;0.73	5.21	-0.531	0.11894	.	0.649919	0.13988	N	0.349005	T	0.07728	0.0194	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.40040	-0.9584	10	0.25106	T	0.35	.	9.6035	0.39619	0.5823:0.0:0.4177:0.0	.	3571;3571;3571;3578	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	3571;3578;3571;3578;3542	ENSP00000356224:A3571V;ENSP00000396024:A3578V;ENSP00000265368:A3571V;ENSP00000390975:A3578V;ENSP00000341887:A3542V	ENSP00000265368:A3571V	A	-	2	0	SYNE1	152717701	0.000000	0.05858	0.066000	0.19879	0.993000	0.82548	0.116000	0.15561	0.018000	0.15052	0.555000	0.69702	GCT		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		150	681	0	0	0	1	0	150	681				
SLC26A4	5172	broad.mit.edu	37	7	107340571	107340571	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107340571C>A	ENST00000265715.3	+	15	1882	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.P114H|SLC26A4_ENST00000544569.1_Missense_Mutation_p.P140H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P122H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	553	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTTCCAGTCCTATTTTCTAT	0.313									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1657-1659)cCt>cAt		solute carrier family 26 (anion exchanger), member 4							117.0	121.0	120.0					7																	107340571		2202	4299	6501	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107340571C>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1658C>A	7.37:g.107340571C>A	ENSP00000265715:p.Pro553His					SLC26A4_ENST00000544569.1_Missense_Mutation_p.P140H|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.P114H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P122H	p.P553H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			15	1882	+			553			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1658C>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178307	0.78564	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.55	5.55	0.83447	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.136203	0.49305	D	0.000151	D	0.94988	0.8378	M	0.78456	2.415	0.46849	D	0.999226	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.952;0.974;0.994	D	0.95261	0.8369	10	0.87932	D	0	.	15.0415	0.71793	0.0:0.8583:0.1417:0.0	.	114;140;553	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	H	553;114;140;122	ENSP00000265715:P553H;ENSP00000439743:P114H;ENSP00000437427:P140H;ENSP00000441209:P122H	ENSP00000265715:P553H	P	+	2	0	SLC26A4	107127807	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.847000	0.62867	2.624000	0.88883	0.563000	0.77884	CCT		0.313	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		43	212	1	0	2.24722e-20	1	2.51766e-20	43	212				
USP28	57646	broad.mit.edu	37	11	113683095	113683095	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000544967.1_Silent_p.S333S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000260188.5_Silent_p.S625S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1873-1875)tcC>tcA		ubiquitin specific peptidase 28							132.0	134.0	133.0					11																	113683095		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683095G>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1875C>A	11.37:g.113683095G>T						USP28_ENST00000544967.1_Silent_p.S333S|USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000545540.1_Silent_p.S500S	p.S625S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1943	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	625					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.1875C>A	CCDS31680.1																																																																																				0.418	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			68	386	1	0	3.94896e-32	1	4.66014e-32	68	386				
PAH	5053	broad.mit.edu	37	12	103238180	103238180	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103238180G>T	ENST00000553106.1	-	10	1471	c.999C>A	c.(997-999)ctC>ctA	p.L333L	PAH_ENST00000307000.2_Silent_p.L328L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	333			L -> F (in PKU).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTGTTTGCAGAGCCCAAACT	0.423																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(997-999)ctC>ctA		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						96.0	87.0	90.0					12																	103238180		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103238180G>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.999C>A	12.37:g.103238180G>T						PAH_ENST00000307000.2_Silent_p.L328L	p.L333L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			10	1471	-			333		L -> F (in PKU).			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.999C>A	CCDS9092.1																																																																																				0.423	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			21	125	1	0	1.2644e-06	1	1.30616e-06	21	125				
KANK2	25959	broad.mit.edu	37	19	11303796	11303796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303796C>T	ENST00000586659.1	-	4	1274	c.960G>A	c.(958-960)ccG>ccA	p.P320P	KANK2_ENST00000432929.2_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000589894.1_Silent_p.P320P|KANK2_ENST00000355150.5_Silent_p.P320P			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	320					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGTCCGGCGGTGGCCAGG	0.726																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(958-960)ccG>ccA		KN motif and ankyrin repeat domains 2							7.0	9.0	8.0					19																	11303796		2142	4154	6296	SO:0001819	synonymous_variant	25959							g.chr19:11303796C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.960G>A	19.37:g.11303796C>T						KANK2_ENST00000589894.1_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000586659.1_Silent_p.P320P|KANK2_ENST00000355150.5_Silent_p.P320P	p.P320P	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	1320	-			320					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.960G>A	CCDS12255.1																																																																																				0.726	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		19	136	0	0	0	1	0	19	136				
SEC61G	23480	broad.mit.edu	37	7	54825203	54825203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54825203T>G	ENST00000415949.1	-	3	445	c.79A>C	c.(79-81)Aaa>Caa	p.K27Q	SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|RP11-745C15.2_ENST00000439413.2_RNA|SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q			P60059	SC61G_HUMAN	Sec61 gamma subunit	27					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|protein transporter activity (GO:0008565)			kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			CTATCAGGTTTAGTGCATCTT	0.353																																						ENST00000415949.1																			0				kidney(1)|lung(5)	6						c.(79-81)Aaa>Caa		Sec61 gamma subunit							122.0	112.0	115.0					7																	54825203		2203	4300	6503	SO:0001583	missense	23480				protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr7:54825203T>G	AF086539	CCDS5513.1	7p11.2	2014-05-19			ENSG00000132432	ENSG00000132432			18277	protein-coding gene	gene with protein product		609215				8107851, 10212142	Standard	NM_014302		Approved	SSS1	uc003tqg.3	P60059	OTTHUMG00000023430	ENST00000415949.1:c.79A>C	7.37:g.54825203T>G	ENSP00000388337:p.Lys27Gln					SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q|SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q	p.K27Q			P60059	SC61G_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)		3	445	-	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		27					B2R4J0|P38384|Q6IB25	Missense_Mutation	SNP	ENST00000415949.1	37	c.79A>C	CCDS5513.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428133	0.83667	.	.	ENSG00000132432	ENST00000395535;ENST00000352861;ENST00000415949;ENST00000450622	.	.	.	5.51	5.51	0.81932	Protein translocase SecE domain (2);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	.	.	.	0.80722	D	1	B	0.32188	0.359	B	0.44133	0.442	T	0.70894	-0.4748	8	0.87932	D	0	-5.6354	13.5768	0.61879	0.0:0.0:0.0:1.0	.	27	P60059	SC61G_HUMAN	Q	27	.	ENSP00000341538:K27Q	K	-	1	0	SEC61G	54792697	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.448000	0.80631	2.093000	0.63338	0.533000	0.62120	AAA		0.353	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251384.2	NM_014302		58	250	0	0	0	1	0	58	250				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414937	14414937	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:14414937G>T	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CTCTGATGAAGGTAAATGGTA	0.398																																						ENST00000507941.1																			0																																																			0							g.chr21:14414937G>T	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414937G>T														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.398	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		12	139	1	0	6.40141e-05	1	6.5221e-05	12	139				
RANBP6	26953	broad.mit.edu	37	9	6014299	6014299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014299C>A	ENST00000259569.5	-	1	1319	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	437					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGTGCAAAATCTGTAGCCATC	0.418																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1309-1311)Gat>Tat		RAN binding protein 6							67.0	68.0	68.0					9																	6014299		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014299C>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1309G>T	9.37:g.6014299C>A	ENSP00000259569:p.Asp437Tyr					RANBP6_ENST00000485372.1_5'UTR	p.D437Y	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1319	-		Acute lymphoblastic leukemia(23;0.158)	437					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1309G>T	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093604	0.56075	.	.	ENSG00000137040	ENST00000259569	T	0.68025	-0.3	4.21	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.096988	0.64402	D	0.000002	T	0.81941	0.4929	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83086	-0.0135	10	0.48119	T	0.1	-12.605	14.8843	0.70555	0.0:1.0:0.0:0.0	.	25;437	B4DTX6;O60518	.;RNBP6_HUMAN	Y	437	ENSP00000259569:D437Y	ENSP00000259569:D437Y	D	-	1	0	RANBP6	6004299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.634000	0.89283	0.650000	0.86243	GAT		0.418	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		11	222	1	0	3.07112e-06	1	3.16074e-06	11	222				
ANKZF1	55139	broad.mit.edu	37	2	220100257	220100257	+	Nonsense_Mutation	SNP	C	C	T	rs370396125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100257C>T	ENST00000323348.5	+	11	1927	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*|ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	585						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAATGAGTTCCGAAGGTTCAT	0.488																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1753-1755)Cga>Tga		ankyrin repeat and zinc finger domain containing 1		C	stop/ARG,stop/ARG	0,3860		0,0,1930	102.0	93.0	96.0		1753,1753	5.5	1.0	2		96	1,8281		0,1,4140	no	stop-gained,stop-gained	ANKZF1	NM_001042410.1,NM_018089.2	,	0,1,6070	TT,TC,CC		0.0121,0.0,0.0082	,	585/727,585/727	220100257	1,12141	1930	4141	6071	SO:0001587	stop_gained	55139					intracellular	zinc ion binding	g.chr2:220100257C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1753C>T	2.37:g.220100257C>T	ENSP00000321617:p.Arg585*					ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*|ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*	p.R585*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1927	+		Renal(207;0.0474)	585					Q9NVZ4	Nonsense_Mutation	SNP	ENST00000323348.5	37	c.1753C>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	40	8.291588	0.98745	0.0	1.21E-4	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4972	19.5125	0.95148	0.0:1.0:0.0:0.0	.	.	.	.	X	585;375;585	.	ENSP00000321617:R585X	R	+	1	2	ANKZF1	219808501	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.100000	0.64560	2.840000	0.97914	0.655000	0.94253	CGA		0.488	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		90	358	0	0	0	1	0	90	358				
PAPOLB	56903	broad.mit.edu	37	7	4900560	4900560	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4900560C>T	ENST00000404991.1	-	1	1065	c.879G>A	c.(877-879)cgG>cgA	p.R293R	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	293					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AATTAAGATTCCGTTCTTCAG	0.443																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(877-879)cgG>cgA		poly(A) polymerase beta (testis specific)							141.0	137.0	138.0					7																	4900560		2201	4299	6500	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900560C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.879G>A	7.37:g.4900560C>T						RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.R293R	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1065	-		Ovarian(82;0.0175)	293					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.879G>A																																																																																					0.443	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		104	476	0	0	0	1	0	104	476				
MOB2	81532	broad.mit.edu	37	11	1491566	1491566	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1491566G>A	ENST00000329957.6	-	5	832	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	184					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						CGAGCAAAGAGGATGAAGTGG	0.617																																						ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(643-645)Ctc>Ttc		MOB kinase activator 2							130.0	141.0	137.0					11																	1491566		2121	4222	6343	SO:0001583	missense	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1491566G>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.643C>T	11.37:g.1491566G>A	ENSP00000328694:p.Leu215Phe					MOB2_ENST00000526462.1_5'UTR	p.L215F	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			5	832	-			184					B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	c.643C>T	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563149	0.45694	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.18	3.24	0.37175	.	0.160384	0.40908	D	0.000991	T	0.58821	0.2149	L	0.48174	1.505	0.41982	D	0.990809	P;P	0.49090	0.919;0.72	P;P	0.55749	0.783;0.619	T	0.52801	-0.8527	9	0.12103	T	0.63	-39.9522	12.2761	0.54735	0.0845:0.0:0.9155:0.0	.	215;184	E9PDA5;Q70IA6	.;MOB2_HUMAN	F	215	.	ENSP00000328694:L215F	L	-	1	0	AC091196.1	1448142	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.756000	0.55205	2.176000	0.68965	0.563000	0.77884	CTC		0.617	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		101	467	0	0	0	1	0	101	467				
ADCY3	109	broad.mit.edu	37	2	25042948	25042948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042948G>A	ENST00000260600.5	-	21	4139	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.Y683Y	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1096					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGGAAGCCGTACTCTCGGA	0.612																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3286-3288)taC>taT		adenylate cyclase 3							54.0	48.0	50.0					2																	25042948		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25042948G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3288C>T	2.37:g.25042948G>A						CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Silent_p.Y683Y|CENPO_ENST00000473706.1_3'UTR	p.Y1096Y	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			21	4139	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1096					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.3288C>T	CCDS1715.1																																																																																				0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			34	202	0	0	0	1	0	34	202				
PCNXL2	80003	broad.mit.edu	37	1	233344327	233344327	+	Missense_Mutation	SNP	C	C	T	rs574508476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233344327C>T	ENST00000258229.9	-	13	3034	c.2800G>A	c.(2800-2802)Gtt>Att	p.V934I	PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I|PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	934						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCATACACAACGTAACTGGGA	0.448																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2800-2802)Gtt>Att		pecanex-like 2 (Drosophila)							109.0	103.0	105.0					1																	233344327		1914	4115	6029	SO:0001583	missense	80003					integral to membrane		g.chr1:233344327C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2800G>A	1.37:g.233344327C>T	ENSP00000258229:p.Val934Ile					PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I|PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I	p.V934I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			13	3034	-		all_cancers(173;0.0347)|Prostate(94;0.137)	934					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2800G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	c	5.277	0.236571	0.10023	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.8	-5.52	0.02560	.	.	.	.	.	T	0.46405	0.1391	L	0.42245	1.32	0.09310	N	1	B;B	0.18741	0.03;0.001	B;B	0.12156	0.007;0.001	T	0.31052	-0.9957	9	0.36615	T	0.2	.	14.7768	0.69736	0.0:0.3611:0.0:0.6389	.	233;934	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	I	934;67;103;233	ENSP00000258229:V934I;ENSP00000430820:V67I;ENSP00000429231:V103I;ENSP00000394703:V233I	ENSP00000258229:V934I	V	-	1	0	PCNXL2	231410950	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.854000	0.04299	-1.021000	0.03350	-2.757000	0.00123	GTT		0.448	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		23	263	0	0	0	1	0	23	263				
SIGLEC1	6614	broad.mit.edu	37	20	3673670	3673670	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673670C>A	ENST00000344754.4	-	14	3616	c.3617G>T	c.(3616-3618)aGc>aTc	p.S1206I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1206	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCGGCGTGGCTGAGGGCCAG	0.697																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3616-3618)aGc>aTc		sialic acid binding Ig-like lectin 1, sialoadhesin							14.0	18.0	17.0					20																	3673670		2175	4271	6446	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673670C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3617G>T	20.37:g.3673670C>A	ENSP00000341141:p.Ser1206Ile					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	p.S1206I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3616	-			1206			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3617G>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.51|12.51	1.958818|1.958818	0.34565|0.34565	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.13089	.|2.62;2.62	4.74|4.74	3.8|3.8	0.43715|0.43715	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.47852	.|D	.|0.000220	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.60904|0.60904	1.88|1.88	0.33759|0.33759	D|D	0.621586|0.621586	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.66716	.|0.946;0.938	T|T	0.30208|0.30208	-0.9986|-0.9986	5|10	.|0.22706	.|T	.|0.39	.|.	8.684|8.684	0.34225|0.34225	0.0:0.8968:0.0:0.1032|0.0:0.8968:0.0:0.1032	.|.	.|1206;1206	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	19|1206	.|ENSP00000341141:S1206I;ENSP00000202578:S1206I	.|ENSP00000202578:S1206I	Q|S	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621670|3621670	0.012000|0.012000	0.17670|0.17670	0.995000|0.995000	0.50966|0.50966	0.619000|0.619000	0.37552|0.37552	0.058000|0.058000	0.14301|0.14301	1.239000|1.239000	0.43787|0.43787	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.697	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		11	242	1	0	0.000978159	1	0.000988919	11	242				
ABCA3	21	broad.mit.edu	37	16	2328417	2328417	+	Silent	SNP	G	G	A	rs375910092		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2328417G>A	ENST00000301732.5	-	30	5290	c.4590C>T	c.(4588-4590)atC>atT	p.I1530I	ABCA3_ENST00000382381.3_Silent_p.I1472I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1530	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGGCTCTCCGATCAGGGCGA	0.637																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4588-4590)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	72.0	66.0	68.0		4590	-10.8	0.0	16		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1530/1705	2328417	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2328417G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4590C>T	16.37:g.2328417G>A						ABCA3_ENST00000382381.3_Silent_p.I1472I	p.I1530I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			30	5290	-		Ovarian(90;0.17)	1530			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4590C>T	CCDS10466.1																																																																																				0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		89	356	0	0	0	1	0	89	356				
RICTOR	253260	broad.mit.edu	37	5	38953136	38953136	+	Missense_Mutation	SNP	G	G	A	rs557179494		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38953136G>A	ENST00000357387.3	-	29	2878	c.2848C>T	c.(2848-2850)Cca>Tca	p.P950S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S|RICTOR_ENST00000503698.1_5'Flank	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTATATCTGGAATCACGTTT	0.353																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(2848-2850)Cca>Tca		RPTOR independent companion of MTOR, complex 2							177.0	177.0	177.0					5																	38953136		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38953136G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2848C>T	5.37:g.38953136G>A	ENSP00000349959:p.Pro950Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S	p.P950S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			29	2878	-	all_lung(31;0.000396)		950						Missense_Mutation	SNP	ENST00000357387.3	37	c.2848C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961496	0.92791	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.68025	-0.3;-0.3	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.741;1.0	P;D	0.87578	0.554;0.998	T	0.79773	-0.1662	10	0.87932	D	0	-14.0935	19.8174	0.96576	0.0:0.0:1.0:0.0	.	950;950	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	950	ENSP00000349959:P950S;ENSP00000296782:P950S	ENSP00000296782:P950S	P	-	1	0	RICTOR	38988893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.233000	0.95337	2.757000	0.94681	0.591000	0.81541	CCA		0.353	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		47	369	0	0	0	1	0	47	369				
PSD2	84249	broad.mit.edu	37	5	139189208	139189208	+	Silent	SNP	G	G	A	rs138202504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139189208G>A	ENST00000274710.3	+	2	388	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	61					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACCCACGAAGGACCCAG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18370	0.0		0.0	False		,,,				2504	0.0					ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(181-183)acG>acA		pleckstrin and Sec7 domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	74.0	77.0	76.0		183	-4.1	0.0	5	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	PSD2	NM_032289.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		61/772	139189208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189208G>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.183G>A	5.37:g.139189208G>A							p.T61T	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	388	+			61					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.183G>A	CCDS4216.1																																																																																				0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		53	255	0	0	0	1	0	53	255				
GABPB1	2553	broad.mit.edu	37	15	50592987	50592987	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50592987T>C	ENST00000220429.8	-	6	900	c.732A>G	c.(730-732)ccA>ccG	p.P244P	GABPB1_ENST00000380877.3_Splice_Site_p.P232P|GABPB1_ENST00000429662.2_Splice_Site_p.P244P|GABPB1_ENST00000543881.1_Splice_Site_p.P168P|GABPB1_ENST00000396464.3_Splice_Site_p.P232P|GABPB1_ENST00000359031.4_Splice_Site_p.P232P|GABPB1_ENST00000560825.1_Splice_Site_p.P232P			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	244					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TTTTCTAACCTGGAGTTTCTG	0.453																																						ENST00000380877.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.e6+1		GA binding protein transcription factor, beta subunit 1							80.0	77.0	78.0					15																	50592987		2196	4295	6491	SO:0001630	splice_region_variant	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50592987T>C	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.733+1A>G	15.37:g.50592987T>C						GABPB1_ENST00000560825.1_Splice_Site_p.P232_splice|GABPB1_ENST00000396464.3_Splice_Site_p.P232_splice|GABPB1_ENST00000359031.4_Splice_Site_p.P232_splice|GABPB1_ENST00000429662.2_Splice_Site_p.P244_splice|GABPB1_ENST00000220429.8_Splice_Site_p.P244_splice|GABPB1_ENST00000543881.1_Splice_Site_p.P168_splice	p.P232_splice	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN			6	1119	-			244					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Splice_Site	SNP	ENST00000220429.8	37	c.697_splice	CCDS32239.1																																																																																				0.453	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		Silent	10	297	0	0	0	1	0	10	297				
DDB1	1642	broad.mit.edu	37	11	61080983	61080983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61080983C>T	ENST00000301764.7	-	16	2454	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	686	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCAGGATAGCCATCTGAATT	0.438								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2056-2058)gGc>gAc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							137.0	131.0	133.0					11																	61080983		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61080983C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2057G>A	11.37:g.61080983C>T	ENSP00000301764:p.Gly686Asp					DDB1_ENST00000450997.2_Intron	p.G686D	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			16	2454	-			686			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2057G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181655	0.78677	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.28454	1.61;1.61	5.63	5.63	0.86233	.	0.049844	0.85682	D	0.000000	T	0.30230	0.0758	L	0.50333	1.59	0.80722	D	1	P	0.41748	0.761	B	0.36885	0.235	T	0.03993	-1.0986	10	0.21014	T	0.42	-24.9162	19.7096	0.96089	0.0:1.0:0.0:0.0	.	686	Q16531	DDB1_HUMAN	D	686;153	ENSP00000301764:G686D;ENSP00000444650:G153D	ENSP00000301764:G686D	G	-	2	0	DDB1	60837559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.737000	0.84957	2.652000	0.90054	0.655000	0.94253	GGC		0.438	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		56	263	0	0	0	1	0	56	263				
ALDH4A1	8659	broad.mit.edu	37	1	19209672	19209672	+	Silent	SNP	C	C	T	rs142063145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209672C>T	ENST00000375341.3	-	7	881	c.624G>A	c.(622-624)tcG>tcA	p.S208S	ALDH4A1_ENST00000538309.1_Silent_p.S148S|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000290597.5_Silent_p.S208S|ALDH4A1_ENST00000538839.1_Silent_p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	208					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTAAAGGGCGAGATGGCCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16822	0.0		0.0	False		,,,				2504	0.0					ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(622-624)tcG>tcA		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)	C	,,	1,4403	2.1+/-5.4	0,1,2201	38.0	41.0	40.0		444,624,624	-10.8	0.2	1	dbSNP_134	40	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,,	148/504,208/564,208/564	19209672	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19209672C>T	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.624G>A	1.37:g.19209672C>T						ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S208S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.S148S|ALDH4A1_ENST00000538839.1_Silent_p.S208S	p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	881	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	208					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	c.624G>A	CCDS188.1																																																																																				0.667	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			29	401	0	0	0	1	0	29	401				
GAL3ST3	89792	broad.mit.edu	37	11	65811009	65811009	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65811009G>A	ENST00000312006.4	-	3	546	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	89					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGGTTGTGGCGCTCGGCAAAG	0.662																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(265-267)Cgc>Tgc		galactose-3-O-sulfotransferase 3							31.0	26.0	27.0					11																	65811009		2201	4295	6496	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65811009G>A	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.265C>T	11.37:g.65811009G>A	ENSP00000308591:p.Arg89Cys					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	p.R89C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	546	-			89					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.265C>T	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859821	0.17178	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99735	-6.58;-6.58	4.49	3.51	0.40186	.	0.151298	0.42548	D	0.000688	D	0.98947	0.9642	M	0.79011	2.435	0.50467	D	0.999871	B	0.21753	0.06	B	0.15484	0.013	D	0.99917	1.1232	10	0.66056	D	0.02	-23.8739	10.4288	0.44395	0.0:0.0:0.7013:0.2987	.	89	Q96A11	G3ST3_HUMAN	C	89	ENSP00000308591:R89C;ENSP00000434829:R89C	ENSP00000308591:R89C	R	-	1	0	GAL3ST3	65567585	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	2.107000	0.41844	2.213000	0.71641	0.462000	0.41574	CGC		0.662	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		20	201	0	0	0	1	0	20	201				
CEP120	153241	broad.mit.edu	37	5	122720769	122720769	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122720769C>T	ENST00000306467.5	-	11	1943	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CEP120_ENST00000328236.5_Missense_Mutation_p.G547R|CEP120_ENST00000306481.6_Missense_Mutation_p.G521R			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	547					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCGCAATTCCCAGAAGTAAA	0.373																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1639-1641)Gga>Aga		centrosomal protein 120kDa							119.0	118.0	118.0					5																	122720769		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122720769C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1639G>A	5.37:g.122720769C>T	ENSP00000303058:p.Gly547Arg					CEP120_ENST00000306481.6_Missense_Mutation_p.G521R|CEP120_ENST00000328236.5_Missense_Mutation_p.G547R	p.G547R			Q8N960	CE120_HUMAN			11	1943	-			547					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1639G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047955	0.93740	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.62	5.62	0.85841	.	0.057822	0.64402	D	0.000002	D	0.88566	0.6471	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89155	0.3526	10	0.87932	D	0	-24.5401	19.6568	0.95845	0.0:1.0:0.0:0.0	.	547	Q8N960	CE120_HUMAN	R	547;547;521;521	ENSP00000303058:G547R;ENSP00000327504:G547R;ENSP00000307419:G521R;ENSP00000421620:G521R	ENSP00000303058:G547R	G	-	1	0	CEP120	122748668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.476000	0.81055	2.656000	0.90262	0.650000	0.86243	GGA		0.373	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		68	247	0	0	0	1	0	68	247				
KY	339855	broad.mit.edu	37	3	134322952	134322952	+	Silent	SNP	G	G	A	rs200535303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322952G>A	ENST00000423778.2	-	11	1516	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.S464S	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	485					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTCCTCCACGCTGAAGCTGA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19539	0.0		0.0	False		,,,				2504	0.0					ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1390-1392)agC>agT		kyphoscoliosis peptidase		G		1,4129		0,1,2064	26.0	28.0	27.0		1455	-8.0	0.7	3		27	0,8390		0,0,4195	no	coding-synonymous	KY	NM_178554.4		0,1,6259	AA,AG,GG		0.0,0.0242,0.0080		485/662	134322952	1,12519	2065	4195	6260	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322952G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1455C>T	3.37:g.134322952G>A						KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S485S	p.S464S			Q8NBH2	KY_HUMAN			10	1449	-			485					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1392C>T	CCDS46920.1																																																																																				0.622	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		20	94	0	0	0	1	0	20	94				
SLC7A5	8140	broad.mit.edu	37	16	87868172	87868172	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87868172A>C	ENST00000261622.4	-	9	1381	c.1316T>G	c.(1315-1317)tTc>tGc	p.F439C	SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	439					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GGCCAGGATGAAGAACACAGG	0.647																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1315-1317)tTc>tGc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							39.0	36.0	37.0					16																	87868172		2189	4294	6483	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87868172A>C	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1316T>G	16.37:g.87868172A>C	ENSP00000261622:p.Phe439Cys					SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C	p.F439C	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	9	1381	-			439					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1316T>G	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473396	0.84640	.	.	ENSG00000103257	ENST00000261622	D	0.90444	-2.67	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95763	0.8802	10	0.87932	D	0	.	14.7371	0.69424	1.0:0.0:0.0:0.0	.	439	Q01650	LAT1_HUMAN	C	439	ENSP00000261622:F439C	ENSP00000261622:F439C	F	-	2	0	SLC7A5	86425673	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.087000	0.76893	2.084000	0.62774	0.374000	0.22700	TTC		0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		15	44	0	0	0	1	0	15	44				
IGKJ5	28946	broad.mit.edu	37	2	89160270	89160270	+	RNA	SNP	T	T	C	rs550878174	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:89160270T>C	ENST00000390238.2	-	0	0				AC096579.13_ENST00000452230.1_RNA|AC096579.7_ENST00000430694.1_RNA|IGKJ3_ENST00000390240.2_RNA|IGKJ1_ENST00000390242.2_RNA|IGKJ4_ENST00000390239.2_RNA|IGKJ2_ENST00000390241.2_RNA					immunoglobulin kappa joining 5																		TAATTTTCTATCCCTTACTCA	0.368													T|||	9	0.00179712	0.0061	0.0	5008	,	,		14202	0.0		0.001	False		,,,				2504	0.0					ENST00000452230.1																			0																																																			0							g.chr2:89160270T>C	J00242		2p11.2	2012-10-05			ENSG00000211593	ENSG00000211593		"""Immunoglobulins / IGK locus"""	5723	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151676		2.37:g.89160270T>C						AC096579.7_ENST00000430694.1_RNA								0	39	-									RNA	SNP	ENST00000390238.2	37																																																																																						0.368	IGKJ5-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000323474.1	NG_000834		6	99	0	0	0	1	0	6	99				
CYP2F1	1572	broad.mit.edu	37	19	41626311	41626311	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41626311C>A	ENST00000331105.2	+	4	466	c.394C>A	c.(394-396)Cta>Ata	p.L132I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	132					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TATCCAGATTCTACGGAATTT	0.547																																						ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(394-396)Cta>Ata		cytochrome P450, family 2, subfamily F, polypeptide 1							111.0	108.0	109.0					19																	41626311		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41626311C>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.394C>A	19.37:g.41626311C>A	ENSP00000333534:p.Leu132Ile						p.L132I	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			4	466	+			132					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.394C>A	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515704	0.44763	.	.	ENSG00000197446	ENST00000331105	T	0.16073	2.37	4.25	4.25	0.50352	.	0.000000	0.64402	U	0.000003	T	0.42471	0.1204	M	0.86420	2.815	0.47374	D	0.999403	D;P	0.53619	0.961;0.897	D;P	0.64776	0.929;0.882	T	0.44982	-0.9292	10	0.87932	D	0	.	10.1017	0.42509	0.0:0.9003:0.0:0.0997	.	132;132	Q32MN5;P24903	.;CP2F1_HUMAN	I	132	ENSP00000333534:L132I	ENSP00000333534:L132I	L	+	1	2	CYP2F1	46318151	0.872000	0.30054	0.787000	0.31911	0.101000	0.19017	1.741000	0.38238	2.239000	0.73571	0.562000	0.76482	CTA		0.547	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			122	537	1	0	7.5252e-50	1	9.31431e-50	122	537				
MED15	51586	broad.mit.edu	37	22	20921060	20921060	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20921060G>T	ENST00000263205.7	+	7	1066	c.997G>T	c.(997-999)Gct>Tct	p.A333S	MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000406969.1_Missense_Mutation_p.A307S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000541476.1_Missense_Mutation_p.A307S|MED15_ENST00000542773.1_Missense_Mutation_p.A138S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	333	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACAGGCGCAAGCTCTCCCTGG	0.582																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(997-999)Gct>Tct		mediator complex subunit 15							193.0	181.0	185.0					22																	20921060		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20921060G>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.997G>T	22.37:g.20921060G>T	ENSP00000263205:p.Ala333Ser					MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000541476.1_Missense_Mutation_p.A307S|MED15_ENST00000542773.1_Missense_Mutation_p.A138S|MED15_ENST00000406969.1_Missense_Mutation_p.A307S|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000478831.1_3'UTR	p.A333S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	1066	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	333			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.997G>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146195	0.21288	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	T	0.44482	0.92	5.13	1.87	0.25490	Mediator complex, subunit Med15, metazoa (1);	0.675615	0.14883	N	0.292854	T	0.30479	0.0766	L	0.49350	1.555	0.38124	D	0.937955	B;B;B;B;B;B	0.23442	0.005;0.005;0.004;0.004;0.085;0.069	B;B;B;B;B;B	0.24974	0.038;0.038;0.022;0.022;0.057;0.055	T	0.08576	-1.0715	10	0.12430	T	0.62	.	5.0251	0.14381	0.2548:0.155:0.5902:0.0	.	279;352;307;333;333;262	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;.;MED15_HUMAN;.	S	222;333;138;333;307;262;307;279	ENSP00000263205:A333S	ENSP00000263205:A333S	A	+	1	0	MED15	19251060	0.790000	0.28787	0.992000	0.48379	0.121000	0.20230	2.198000	0.42705	0.390000	0.25115	-0.136000	0.14681	GCT		0.582	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		137	648	1	0	1.207e-77	1	1.54108e-77	137	648				
ZNF768	79724	broad.mit.edu	37	16	30536780	30536780	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536780C>T	ENST00000380412.5	-	2	856	c.681G>A	c.(679-681)ccG>ccA	p.P227P	ZNF768_ENST00000562803.1_Silent_p.P196P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	227					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTCAAACTGCGGTGTAGACA	0.662																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(679-681)ccG>ccA		zinc finger protein 768							60.0	64.0	63.0					16																	30536780		2197	4299	6496	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536780C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.681G>A	16.37:g.30536780C>T						ZNF768_ENST00000562803.1_Silent_p.P196P	p.P227P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	856	-			227					Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.681G>A	CCDS10681.2																																																																																				0.662	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		14	647	0	0	0	1	0	14	647				
SYCP2	10388	broad.mit.edu	37	20	58439413	58439413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439413C>T	ENST00000357552.3	-	45	4771	c.4546G>A	c.(4546-4548)Gaa>Aaa	p.E1516K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1516					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GACATCAGTTCTCTGCGTACA	0.303																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(4546-4548)Gaa>Aaa		synaptonemal complex protein 2							65.0	60.0	62.0					20																	58439413		2201	4291	6492	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58439413C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4546G>A	20.37:g.58439413C>T	ENSP00000350162:p.Glu1516Lys					SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K	p.E1516K			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		45	4771	-	all_lung(29;0.00344)		1516					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4546G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981641	0.53827	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14022	2.54;2.54	5.31	4.37	0.52481	.	0.095117	0.46145	D	0.000303	T	0.09335	0.0230	N	0.14661	0.345	0.23186	N	0.998152	B	0.25169	0.119	B	0.26416	0.069	T	0.24119	-1.0169	10	0.59425	D	0.04	-9.4305	11.6587	0.51334	0.0:0.9131:0.0:0.0869	.	1516	Q9BX26	SYCP2_HUMAN	K	1516;1516;202	ENSP00000360040:E1516K;ENSP00000350162:E1516K	ENSP00000350162:E1516K	E	-	1	0	SYCP2	57872808	1.000000	0.71417	0.983000	0.44433	0.844000	0.47949	3.194000	0.51005	1.250000	0.43966	0.305000	0.20034	GAA		0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		8	71	0	0	0	1	0	8	71				
SEPT5	5413	broad.mit.edu	37	22	19709181	19709181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709181G>A	ENST00000455784.2	+	9	861	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SEPT5_ENST00000438754.2_Missense_Mutation_p.V255I|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I|SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	246	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCCCTTCGCCGTTATAGGCAG	0.637																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(763-765)Gtt>Att		septin 5							39.0	47.0	44.0					22																	19709181		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709181G>A	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.736G>A	22.37:g.19709181G>A	ENSP00000391311:p.Val246Ile					SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I|SEPT5_ENST00000455784.2_Missense_Mutation_p.V246I|SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I	p.V255I	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			8	1043	+	Colorectal(54;0.0993)		246					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.763G>A	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248348	0.95305	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	3.92	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.58864	0.2152	L	0.58669	1.825	0.58432	D	0.999995	P	0.51147	0.942	P	0.60068	0.868	T	0.61476	-0.7055	10	0.62326	D	0.03	.	11.7634	0.51916	0.0873:0.0:0.9127:0.0	.	246	Q99719	SEPT5_HUMAN	I	246;246;199;284;255;255	ENSP00000391311:V246I;ENSP00000384535:V246I;ENSP00000408678:V199I;ENSP00000414488:V284I;ENSP00000372515:V255I;ENSP00000394541:V255I	ENSP00000372515:V255I	V	+	1	0	SEPT5	18089181	1.000000	0.71417	0.008000	0.14137	0.367000	0.29736	9.496000	0.97967	1.011000	0.39340	0.478000	0.44815	GTT		0.637	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		22	399	0	0	0	1	0	22	399				
SATB1	6304	broad.mit.edu	37	3	18457596	18457596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18457596C>A	ENST00000338745.6	-	4	2152	c.418G>T	c.(418-420)Gtt>Ttt	p.V140F	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|SATB1_ENST00000417717.2_Missense_Mutation_p.V140F	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	140	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACAGTGGAACTGGATTCCAC	0.393																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(418-420)Gtt>Ttt		SATB homeobox 1							105.0	96.0	99.0					3																	18457596		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18457596C>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.418G>T	3.37:g.18457596C>A	ENSP00000341024:p.Val140Phe					SATB1_ENST00000417717.2_Missense_Mutation_p.V140F|SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	p.V140F	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			4	2152	-			140			PDZ-like dimerization domain.		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.418G>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713023	0.68730	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	L	0.47716	1.5	0.80722	D	1	D;P	0.65815	0.995;0.941	D;P	0.65233	0.933;0.632	D	0.85488	0.1183	10	0.72032	D	0.01	-7.4249	19.7401	0.96223	0.0:1.0:0.0:0.0	.	140;140	Q01826-2;Q01826	.;SATB1_HUMAN	F	140	ENSP00000341024:V140F;ENSP00000399708:V140F;ENSP00000399518:V140F;ENSP00000402982:V140F;ENSP00000406727:V140F;ENSP00000390529:V140F	ENSP00000341024:V140F	V	-	1	0	SATB1	18432600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.727000	0.93392	0.591000	0.81541	GTT		0.393	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		76	310	1	0	1.14856e-27	1	1.3317e-27	76	310				
CDH26	60437	broad.mit.edu	37	20	58569448	58569448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569448G>A	ENST00000244047.5	+	11	1881	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.D524N|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	524					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CGAGGCAGAGGATCCGGACCT	0.547																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1570-1572)Gat>Aat		cadherin 26							71.0	66.0	67.0					20																	58569448		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569448G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1570G>A	20.37:g.58569448G>A	ENSP00000244047:p.Asp524Asn					CDH26_ENST00000244047.5_Missense_Mutation_p.D524N|CDH26_ENST00000497614.1_3'UTR	p.D524N	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1870	+	all_lung(29;0.00963)		524					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1570G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.089308	0.76756	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.78003	-1.14;-1.14	4.35	3.4	0.38934	Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.88731	0.6516	M	0.89715	3.055	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81136	-0.1070	10	0.87932	D	0	.	10.9183	0.47150	0.0947:0.0:0.9053:0.0	.	524;524	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	N	524	ENSP00000244047:D524N;ENSP00000339390:D524N	ENSP00000244047:D524N	D	+	1	0	CDH26	58002843	0.998000	0.40836	0.003000	0.11579	0.370000	0.29829	4.005000	0.57075	0.809000	0.34255	0.655000	0.94253	GAT		0.547	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		16	252	0	0	0	1	0	16	252				
CHD8	57680	broad.mit.edu	37	14	21869119	21869119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21869119G>A	ENST00000557364.1	-	22	4548	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W|CHD8_ENST00000399982.2_Missense_Mutation_p.R1429W			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1429					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCGTGGCCGCTCATCATCC	0.498																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4285-4287)Cgg>Tgg		chromodomain helicase DNA binding protein 8							129.0	126.0	127.0					14																	21869119		1988	4168	6156	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21869119G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4285C>T	14.37:g.21869119G>A	ENSP00000451601:p.Arg1429Trp					CHD8_ENST00000557364.1_Missense_Mutation_p.R1429W|CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W|CHD8_ENST00000555962.1_Intron	p.R1429W	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	21	4349	-	all_cancers(95;0.00121)		1429					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4285C>T	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.915889|2.915889	0.52546|0.52546	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.86097	.|-2.07;-2.07;-2.07	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|0.076903	.|0.56097	.|D	.|0.000033	D|D	0.85708|0.85708	0.5759|0.5759	N|N	0.22421|0.22421	0.69|0.69	0.48975|0.48975	D|D	0.999736|0.999736	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.71184	.|0.872;0.972	D|D	0.86944|0.86944	0.2081|0.2081	5|10	.|0.87932	.|D	.|0	-12.8282|-12.8282	11.6568|11.6568	0.51324|0.51324	0.0:0.0:0.6781:0.3219|0.0:0.0:0.6781:0.3219	.|.	.|1429;1150	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	V|W	654|1150;1429;1149;1429	.|ENSP00000406288:R1150W;ENSP00000382863:R1429W;ENSP00000451601:R1429W	.|ENSP00000262707:R1149W	A|R	-|-	2|1	0|2	CHD8|CHD8	20938959|20938959	0.907000|0.907000	0.30839|0.30839	0.999000|0.999000	0.59377|0.59377	0.670000|0.670000	0.39368|0.39368	3.463000|3.463000	0.53050|0.53050	1.312000|1.312000	0.45043|0.45043	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		71	281	0	0	0	1	0	71	281				
GBA2	57704	broad.mit.edu	37	9	35741771	35741771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35741771G>A	ENST00000378103.3	-	4	1207	c.684C>T	c.(682-684)taC>taT	p.Y228Y	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Silent_p.Y228Y|GBA2_ENST00000545786.1_Silent_p.Y234Y	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	228					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGGGCATGGTAGAAAGCAA	0.592																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(682-684)taC>taT		glucosidase, beta (bile acid) 2							129.0	121.0	124.0					9																	35741771		2203	4300	6503	SO:0001819	synonymous_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35741771G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.684C>T	9.37:g.35741771G>A						GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.Y234Y|GBA2_ENST00000378103.3_Silent_p.Y228Y	p.Y228Y			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	1197	-	all_epithelial(49;0.167)		228					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.684C>T	CCDS6589.1																																																																																				0.592	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		105	466	0	0	0	1	0	105	466				
PTBP2	58155	broad.mit.edu	37	1	97217025	97217025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97217025G>A	ENST00000426398.2	+	3	127	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000609116.1_Silent_p.P28P|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000541987.1_5'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	28					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCAGTAGTCCGAACTCTAATA	0.348																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(82-84)ccG>ccA		polypyrimidine tract binding protein 2							228.0	217.0	221.0					1																	97217025		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97217025G>A	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.84G>A	1.37:g.97217025G>A						PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000426398.2_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000541987.1_5'UTR	p.P28P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	3	166	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	28					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.84G>A	CCDS754.1																																																																																				0.348	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			169	635	0	0	0	1	0	169	635				
PCDHGA9	56107	broad.mit.edu	37	5	140784497	140784497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784497C>T	ENST00000573521.1	+	1	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	660	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTCACGCTCACAGTAGC	0.602																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1978-1980)Ctc>Ttc									55.0	64.0	61.0					5																	140784497		2187	4293	6480	SO:0001583	missense	0							g.chr5:140784497C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1978C>T	5.37:g.140784497C>T	ENSP00000460274:p.Leu660Phe					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L660F	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1978	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.1978C>T	CCDS58981.1																																																																																				0.602	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		79	303	0	0	0	1	0	79	303				
RPF2	84154	broad.mit.edu	37	6	111310254	111310254	+	Silent	SNP	T	T	C	rs369612477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111310254T>C	ENST00000441448.2	+	3	272	c.180T>C	c.(178-180)ggT>ggC	p.G60G		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	60	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.		G -> S (in dbSNP:rs6909298).			nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AACCATACGGTGTACTATATA	0.249																																						ENST00000441448.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(178-180)ggT>ggC		ribosome production factor 2 homolog (S. cerevisiae)		T		0,4372		0,0,2186	41.0	44.0	43.0		180	-9.8	0.0	6		43	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	RPF2	NM_032194.1		0,1,6479	CC,CT,TT		0.0116,0.0,0.0077		60/307	111310254	1,12959	2186	4294	6480	SO:0001819	synonymous_variant	84154					nucleolus	protein binding	g.chr6:111310254T>C	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.180T>C	6.37:g.111310254T>C							p.G60G	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			3	272	+			60		G -> S (in dbSNP:rs6909298).	Brix.		Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	37	c.180T>C	CCDS5088.1																																																																																				0.249	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		12	61	0	0	0	1	0	12	61				
NAA38	84316	broad.mit.edu	37	7	117828431	117828431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117828431G>T	ENST00000249299.2	+	3	364	c.172G>T	c.(172-174)Gga>Tga	p.G58*	NAA38_ENST00000424702.1_Nonsense_Mutation_p.G58*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	100					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGTGGTACTAGGATTATACAT	0.368																																						ENST00000424702.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						c.(172-174)Gga>Tga		N(alpha)-acetyltransferase 38, NatC auxiliary subunit							85.0	85.0	85.0					7																	117828431		2203	4300	6503	SO:0001587	stop_gained	51691				nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding	g.chr7:117828431G>T		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"""N(alpha)-acetyltransferase subunits"""	28212	protein-coding gene	gene with protein product			"""LSM domain containing 1"""	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.172G>T	7.37:g.117828431G>T	ENSP00000249299:p.Gly58*					NAA38_ENST00000249299.2_Nonsense_Mutation_p.G58*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*	p.G58*			O95777	NAA38_HUMAN			3	252	+			58					Q8N4M0	Nonsense_Mutation	SNP	ENST00000249299.2	37	c.172G>T	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274682	0.80580	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	.	.	.	5.84	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.22	14.8076	0.69968	0.0688:0.0:0.9312:0.0	.	.	.	.	X	58;58;37;69	.	ENSP00000249299:G58X	G	+	1	0	NAA38	117615667	1.000000	0.71417	0.167000	0.22817	0.953000	0.61014	9.234000	0.95347	1.480000	0.48289	0.650000	0.86243	GGA		0.368	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356		50	232	1	0	3.86236e-30	1	4.52529e-30	50	232				
DOPEY2	9980	broad.mit.edu	37	21	37537005	37537005	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37537005G>T	ENST00000399151.3	+	2	59		c.e2-1			NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2						cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGCTTTTAGATACTTTTCT	0.393																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.e2-1		dopey family member 2							43.0	43.0	43.0					21																	37537005		2203	4300	6503	SO:0001630	splice_region_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37537005G>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.-26-1G>T	21.37:g.37537005G>T								NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			2	59	+								D3DSG5|Q6PJQ7|Q9UEZ3	Splice_Site	SNP	ENST00000399151.3	37		CCDS13643.1																																																																																				0.393	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	Intron	27	192	1	0	3.28513e-13	1	3.54196e-13	27	192				
LARS2	23395	broad.mit.edu	37	3	45530205	45530205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45530205C>T	ENST00000415258.1	+	11	1281	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Silent_p.S337S|LARS2_ENST00000265537.3_Silent_p.S380S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	380					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCAGTACTAGCTCAGAGGACA	0.473																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1138-1140)agC>agT		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						87.0	83.0	84.0					3																	45530205		2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45530205C>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1140C>T	3.37:g.45530205C>T						LARS2_ENST00000265537.3_Silent_p.S380S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Silent_p.S337S	p.S380S			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	11	1281	+			380						Silent	SNP	ENST00000415258.1	37	c.1140C>T	CCDS2728.1																																																																																				0.473	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		12	270	0	0	0	1	0	12	270				
DUSP10	11221	broad.mit.edu	37	1	221875948	221875948	+	Missense_Mutation	SNP	C	C	T	rs116590328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221875948C>T	ENST00000366899.3	-	4	1493	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	419	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TAAGCGATGACGATGGTGGCG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20327	0.0		0.001	False		,,,				2504	0.0					ENST00000366899.3																			0				NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1255-1257)Gtc>Atc		dual specificity phosphatase 10							131.0	120.0	124.0					1																	221875948		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221875948C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1255G>A	1.37:g.221875948C>T	ENSP00000355866:p.Val419Ile					DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I|DUSP10_ENST00000468085.1_5'UTR	p.V419I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	4	1493	-			419			Tyrosine-protein phosphatase.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.1255G>A	CCDS1528.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.5	4.639782	0.87760	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	T;T;T	0.62232	0.04;0.04;0.04	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	L	0.48877	1.53	0.80722	D	1	P	0.50066	0.931	B	0.38921	0.285	T	0.65138	-0.6241	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	419	Q9Y6W6	DUS10_HUMAN	I	419;364;77;77	ENSP00000355866:V419I;ENSP00000322015:V77I;ENSP00000441302:V77I	ENSP00000322015:V77I	V	-	1	0	DUSP10	219942571	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	GTC		0.488	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		42	515	0	0	0	1	0	42	515				
MAP4K1	11184	broad.mit.edu	37	19	39087084	39087084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087084G>A	ENST00000591517.1	-	26	2012	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Silent_p.L662L|MAP4K1_ENST00000589130.1_Silent_p.L658L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	662	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGTCAGCAGCGCGAACACG	0.726																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1984-1986)Ctg>Ttg		mitogen-activated protein kinase kinase kinase kinase 1							9.0	12.0	11.0					19																	39087084		1961	4117	6078	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39087084G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1984C>T	19.37:g.39087084G>A						MAP4K1_ENST00000589130.1_Silent_p.L658L|MAP4K1_ENST00000396857.2_Silent_p.L662L|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	p.L662L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	2012	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		662			CNH.			Silent	SNP	ENST00000591517.1	37	c.1984C>T	CCDS59385.1																																																																																				0.726	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		16	55	0	0	0	1	0	16	55				
MIR429	554210	broad.mit.edu	37	1	1104462	1104462	+	lincRNA	SNP	C	C	T	rs201269584		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1104462C>T	ENST00000606993.1	+	0	0				MIR429_ENST00000362106.1_RNA|MIR200A_ENST00000384875.1_RNA|MIR200B_ENST00000384997.1_RNA																							ACCGTCCATCCGCTGCCTGAT	0.622													a|||	1	0.000199681	0.0	0.0	5008	,	,		13763	0.001		0.0	False		,,,				2504	0.0					ENST00000362106.1																			0																	0,3136		0,0,1568	41.0	48.0	46.0			0.7	0.3	1		46	2,7162		0,2,3580	no	intergenic				0,2,5148	TT,TC,CC		0.0279,0.0,0.0194			1104462	2,10298	1568	3582	5150			0							g.chr1:1104462C>T																													1.37:g.1104462C>T								NR_029957.1						0	78	+									RNA	SNP	ENST00000606993.1	37																																																																																						0.622	RP11-465B22.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470776.1			23	164	0	0	0	1	0	23	164				
GPR112	139378	broad.mit.edu	37	X	135430783	135430783	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430783A>C	ENST00000394143.1	+	6	5209	c.4918A>C	c.(4918-4920)Atc>Ctc	p.I1640L	GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L|GPR112_ENST00000394141.1_Missense_Mutation_p.I1435L|GPR112_ENST00000412101.1_Missense_Mutation_p.I1435L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1640					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTTCCAGGATCACACCTAC	0.448																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4918-4920)Atc>Ctc		G protein-coupled receptor 112							136.0	128.0	131.0					X																	135430783		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430783A>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4918A>C	X.37:g.135430783A>C	ENSP00000377699:p.Ile1640Leu					GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000412101.1_Missense_Mutation_p.I1435L|GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L|GPR112_ENST00000394141.1_Missense_Mutation_p.I1435L	p.I1640L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5209	+	Acute lymphoblastic leukemia(192;0.000127)		1640					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4918A>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	13.03	2.115233	0.37339	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.68;1.55	3.41	2.16	0.27623	.	.	.	.	.	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	1	P;B;B	0.51449	0.945;0.392;0.272	P;B;B	0.46237	0.508;0.062;0.028	T	0.08806	-1.0704	9	0.13108	T	0.6	.	5.3713	0.16140	0.7349:0.0:0.0:0.2651	.	1577;1435;1640	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1640;1640;1435;1577;1435	ENSP00000377699:I1640L;ENSP00000359686:I1640L;ENSP00000416526:I1435L;ENSP00000287534:I1577L;ENSP00000377697:I1435L	ENSP00000287534:I1577L	I	+	1	0	GPR112	135258449	0.646000	0.27295	0.001000	0.08648	0.191000	0.23601	2.703000	0.47110	0.192000	0.20272	0.352000	0.21897	ATC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			25	818	0	0	0	1	0	25	818				
NEO1	4756	broad.mit.edu	37	15	73409160	73409160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73409160G>T	ENST00000339362.5	+	3	857	c.410G>T	c.(409-411)gGa>gTa	p.G137V	NEO1_ENST00000560262.1_Missense_Mutation_p.G137V|NEO1_ENST00000261908.6_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V			Q92859	NEO1_HUMAN	neogenin 1	137	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAGAGTCTTGGAACTATTATC	0.343																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(409-411)gGa>gTa		neogenin 1							97.0	97.0	97.0					15																	73409160		2198	4296	6494	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73409160G>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.410G>T	15.37:g.73409160G>T	ENSP00000341198:p.Gly137Val					NEO1_ENST00000261908.6_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V|NEO1_ENST00000560262.1_Missense_Mutation_p.G137V	p.G137V			Q92859	NEO1_HUMAN			3	857	+			137			Ig-like C2-type 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.410G>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675237	0.88445	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.58506	0.33;0.33	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87943	0.2718	10	0.72032	D	0.01	-16.9501	20.33	0.98713	0.0:0.0:1.0:0.0	.	137;137;137	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	V	137	ENSP00000341198:G137V;ENSP00000261908:G137V	ENSP00000261908:G137V	G	+	2	0	NEO1	71196213	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.209000	0.95087	2.810000	0.96702	0.585000	0.79938	GGA		0.343	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		95	423	1	0	1.19196e-48	1	1.47188e-48	95	423				
USHBP1	83878	broad.mit.edu	37	19	17369103	17369103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17369103C>T	ENST00000252597.3	-	8	1311	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCAGCTGCTTGCAGGTCA	0.592																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1138-1140)Gca>Aca		Usher syndrome 1C binding protein 1							95.0	82.0	86.0					19																	17369103		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17369103C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1138G>A	19.37:g.17369103C>T	ENSP00000252597:p.Ala380Thr					USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	p.A380T	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			8	1311	-			380						Missense_Mutation	SNP	ENST00000252597.3	37	c.1138G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	c	9.037	0.988810	0.18966	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.21031	2.04;2.03	4.11	1.9	0.25705	.	0.777662	0.11749	N	0.533250	T	0.15652	0.0377	L	0.56769	1.78	0.20638	N	0.999875	B;B	0.27498	0.18;0.18	B;B	0.19391	0.025;0.025	T	0.31503	-0.9941	10	0.10111	T	0.7	-0.2273	4.8094	0.13337	0.0:0.6537:0.2258:0.1206	.	316;380	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	T	380;316	ENSP00000252597:A380T;ENSP00000407902:A316T	ENSP00000252597:A380T	A	-	1	0	USHBP1	17230103	0.625000	0.27111	0.533000	0.28001	0.396000	0.30629	1.827000	0.39102	0.994000	0.38892	0.544000	0.68410	GCA		0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		81	335	0	0	0	1	0	81	335				
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	C	T	rs148694864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7762890C>T	ENST00000358415.4	+	7	868	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH2_ENST00000379587.4_Silent_p.F223F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	234					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F234F(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483																																						ENST00000358415.4																			2	Substitution - coding silent(2)	p.F234F(2)	large_intestine(2)	NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(700-702)ttC>ttT		inter-alpha-trypsin inhibitor heavy chain 2		C		3,4403	6.2+/-15.9	0,3,2200	162.0	136.0	145.0		702	0.4	1.0	10	dbSNP_134	145	0,8600		0,0,4300	no	coding-synonymous	ITIH2	NM_002216.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		234/947	7762890	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7762890C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.702C>T	10.37:g.7762890C>T						ITIH2_ENST00000379587.4_Silent_p.F223F	p.F234F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			7	868	+			234					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.702C>T	CCDS31141.1																																																																																				0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		87	412	0	0	0	1	0	87	412				
TOPBP1	11073	broad.mit.edu	37	3	133320197	133320197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133320197G>A	ENST00000260810.5	-	28	4597	c.4466C>T	c.(4465-4467)gCt>gTt	p.A1489V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1489					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAATGAAATAGCTTCTGGTAG	0.313								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(4465-4467)gCt>gTt	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							41.0	36.0	38.0					3																	133320197		1787	4047	5834	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133320197G>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4466C>T	3.37:g.133320197G>A	ENSP00000260810:p.Ala1489Val						p.A1489V	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			28	4597	-			1489					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.4466C>T	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032347	0.75504	.	.	ENSG00000163781	ENST00000260810	T	0.13657	2.57	5.6	5.6	0.85130	.	0.098068	0.64402	D	0.000001	T	0.13927	0.0337	L	0.48642	1.525	0.58432	D	0.999997	P	0.46987	0.888	B	0.33568	0.166	T	0.02617	-1.1133	10	0.49607	T	0.09	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	1489	Q92547	TOPB1_HUMAN	V	1489	ENSP00000260810:A1489V	ENSP00000260810:A1489V	A	-	2	0	TOPBP1	134802887	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	6.952000	0.75989	2.627000	0.88993	0.655000	0.94253	GCT		0.313	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		20	53	0	0	0	1	0	20	53				
CPB1	1360	broad.mit.edu	37	3	148575278	148575278	+	Missense_Mutation	SNP	C	C	A	rs149931188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148575278C>A	ENST00000491148.1	+	11	1350	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000498639.1_3'UTR			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	339						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAAGAACTTGCCTCACTGCAC	0.448																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1015-1017)gCc>gAc		carboxypeptidase B1 (tissue)							118.0	106.0	110.0					3																	148575278		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148575278C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.1016C>A	3.37:g.148575278C>A	ENSP00000417222:p.Ala339Asp					CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000498639.1_3'UTR	p.A339D			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		11	1350	+			339					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.1016C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769244	0.49680	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.11277	2.79;2.79	5.89	5.0	0.66597	Peptidase M14, carboxypeptidase A (2);	0.487974	0.24810	N	0.035419	T	0.13114	0.0318	L	0.55103	1.725	0.37101	D	0.899904	P	0.45634	0.863	B	0.41666	0.363	T	0.20338	-1.0278	10	0.17832	T	0.49	.	15.0493	0.71854	0.1431:0.8569:0.0:0.0	.	339	P15086	CBPB1_HUMAN	D	339	ENSP00000417222:A339D;ENSP00000282957:A339D	ENSP00000282957:A339D	A	+	2	0	CPB1	150057968	0.123000	0.22298	0.064000	0.19789	0.366000	0.29705	3.589000	0.53972	1.452000	0.47756	0.557000	0.71058	GCC		0.448	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		37	208	1	0	2.95478e-19	1	3.29235e-19	37	208				
GJC1	10052	broad.mit.edu	37	17	42882639	42882639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42882639C>A	ENST00000426548.1	-	3	816	c.547G>T	c.(547-549)Gca>Tca	p.A183S	GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000592524.1_Missense_Mutation_p.A183S|GJC1_ENST00000590758.1_Missense_Mutation_p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	183					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ACGGTCCTTGCCAGCAACTGC	0.483																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(547-549)Gca>Tca		gap junction protein, gamma 1, 45kDa							204.0	184.0	191.0					17																	42882639		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882639C>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.547G>T	17.37:g.42882639C>A	ENSP00000411528:p.Ala183Ser					GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000592524.1_Missense_Mutation_p.A183S|GJC1_ENST00000590758.1_Missense_Mutation_p.A183S	p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	816	-		Prostate(33;0.0959)	183					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.547G>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608452	0.14002	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97924	-4.61;-4.61	5.52	5.52	0.82312	.	0.237085	0.43747	D	0.000539	D	0.93301	0.7865	N	0.13043	0.29	0.31560	N	0.657666	B	0.09022	0.002	B	0.08055	0.003	D	0.90067	0.4160	10	0.30078	T	0.28	.	13.3967	0.60858	0.1572:0.8428:0.0:0.0	.	183	P36383	CXG1_HUMAN	S	183	ENSP00000411528:A183S;ENSP00000333193:A183S	ENSP00000333193:A183S	A	-	1	0	GJC1	40238165	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.994000	0.40757	2.581000	0.87130	0.514000	0.50259	GCA		0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		147	831	1	0	2.66858e-58	1	3.34646e-58	147	831				
CPSF4	10898	broad.mit.edu	37	7	99051675	99051675	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99051675G>A	ENST00000292476.5	+	7	667	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.P161P|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000436336.2_Silent_p.P194P|CPSF4_ENST00000441580.1_Silent_p.P141P			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	219					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAGAACCCCGCAGGTCATCG	0.557																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(580-582)ccG>ccA		cleavage and polyadenylation specific factor 4, 30kDa							146.0	160.0	155.0					7																	99051675		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051675G>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.657G>A	7.37:g.99051675G>A						PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.P161P|CPSF4_ENST00000292476.5_Silent_p.P219P|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Silent_p.P141P	p.P194P	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			7	743	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		219					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.582G>A	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.28|11.28	1.591459|1.591459	0.28357|0.28357	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000452047	.|T	.|0.32515	.|1.45	5.67|5.67	-1.46|-1.46	0.08800|0.08800	.|.	.|.	.|.	.|.	.|.	T|T	0.19287|0.19287	0.0463|0.0463	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.16541|0.16541	-1.0399|-1.0399	4|6	.|0.15952	.|T	.|0.53	-14.7418|-14.7418	4.8814|4.8814	0.13681|0.13681	0.4929:0.0963:0.3203:0.0905|0.4929:0.0963:0.3203:0.0905	.|.	.|.	.|.	.|.	T|H	101|130	.|ENSP00000392584:R130H	.|ENSP00000392584:R130H	A|R	+|+	1|2	0|0	CPSF4|CPSF4	98889611|98889611	0.081000|0.081000	0.21417|0.21417	0.953000|0.953000	0.39169|0.39169	0.788000|0.788000	0.44548|0.44548	-0.013000|-0.013000	0.12678|0.12678	-0.642000|-0.642000	0.05480|0.05480	-1.731000|-1.731000	0.00696|0.00696	GCA|CGC		0.557	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			240	858	0	0	0	1	0	240	858				
ABHD3	171586	broad.mit.edu	37	18	19283700	19283700	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19283700C>T	ENST00000289119.2	-	2	310	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ABHD3_ENST00000580981.1_Silent_p.Q57Q|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	57						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CGGTCACTAACTGGGGTTTCT	0.562																																						ENST00000289119.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						c.(169-171)caG>caA		abhydrolase domain containing 3							52.0	52.0	52.0					18																	19283700		2203	4300	6503	SO:0001819	synonymous_variant	171586					integral to membrane	carboxylesterase activity	g.chr18:19283700C>T	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.171G>A	18.37:g.19283700C>T						ABHD3_ENST00000580981.1_Silent_p.Q57Q|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	p.Q57Q	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN			2	310	-			57					B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	37	c.171G>A	CCDS32802.1																																																																																				0.562	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			38	224	0	0	0	1	0	38	224				
AKAP9	10142	broad.mit.edu	37	7	91622256	91622256	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91622256A>C	ENST00000359028.2	+	6	724	c.499A>C	c.(499-501)Act>Cct	p.T167P	AKAP9_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P|AKAP9_ENST00000356239.3_Missense_Mutation_p.T155P			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGACAGTCCGACTCATCTAGA	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(499-501)Act>Cct		A kinase (PRKA) anchor protein 9							116.0	113.0	114.0					7																	91622256		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91622256A>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.499A>C	7.37:g.91622256A>C	ENSP00000351922:p.Thr167Pro					AKAP9_ENST00000356239.3_Missense_Mutation_p.T155P|AKAP9_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P	p.T167P			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	724	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		167					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.499A>C		.	.	.	.	.	.	.	.	.	.	A	8.005	0.756176	0.15846	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.37	4.22	0.49857	.	0.000000	0.41500	D	0.000868	T	0.45013	0.1321	L	0.34521	1.04	0.31554	N	0.658346	B;B;D;B	0.76494	0.004;0.003;0.999;0.006	B;B;D;B	0.71656	0.004;0.004;0.974;0.009	T	0.49418	-0.8942	10	0.49607	T	0.09	.	10.8963	0.47025	0.9259:0.0:0.0741:0.0	.	155;155;167;155	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	P	155;167;167;167;167;155;106	ENSP00000348573:T155P;ENSP00000351922:T167P;ENSP00000350813:T167P;ENSP00000378065:T155P;ENSP00000391704:T106P	ENSP00000348573:T155P	T	+	1	0	AKAP9	91460192	0.043000	0.20138	0.969000	0.41365	0.293000	0.27360	2.255000	0.43222	2.147000	0.66899	0.533000	0.62120	ACT		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	251	0	0	0	1	0	7	251				
MACROD1	28992	broad.mit.edu	37	11	63884481	63884481	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884481C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Nonsense_Mutation_p.Q248*	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGCCGCCTACAGAACCTCAC	0.652																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(742-744)Cag>Tag		fibronectin leucine rich transmembrane protein 1							29.0	27.0	28.0					11																	63884481		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884481C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34229G>A	11.37:g.63884481C>T						MACROD1_ENST00000255681.6_Intron	p.Q248*	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1785	+			220					Q9UH96	Nonsense_Mutation	SNP	ENST00000255681.6	37	c.742C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	42	9.548870	0.99202	.	.	ENSG00000126500	ENST00000246841	.	.	.	5.56	3.63	0.41609	.	0.290368	0.31392	N	0.007727	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-24.6211	14.9428	0.71006	0.0:0.7278:0.2722:0.0	.	.	.	.	X	248	.	ENSP00000246841:Q248X	Q	+	1	0	FLRT1	63641057	0.997000	0.39634	1.000000	0.80357	0.368000	0.29767	2.333000	0.43912	0.664000	0.31047	-0.314000	0.08810	CAG		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		34	114	0	0	0	1	0	34	114				
ATP8B4	79895	broad.mit.edu	37	15	50209130	50209130	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50209130C>A	ENST00000284509.6	-	20	2283		c.e20+1		ATP8B4_ENST00000559829.1_Splice_Site	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		tcAACACCTACCTGAGTTCTT	0.453																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.e20+1		ATPase, class I, type 8B, member 4							271.0	223.0	239.0					15																	50209130		2196	4295	6491	SO:0001630	splice_region_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50209130C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2141+1G>T	15.37:g.50209130C>A						ATP8B4_ENST00000559829.1_Splice_Site		NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	20	2283	-		all_lung(180;0.00183)						Q9H727	Splice_Site	SNP	ENST00000284509.6	37		CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077341	0.76415	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6736	0.85273	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8B4	47996422	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	7.137000	0.77295	2.600000	0.87896	0.655000	0.94253	.		0.453	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	Intron	61	246	1	0	1.1362e-29	1	1.32843e-29	61	246				
SPESP1	246777	broad.mit.edu	37	15	69238882	69238882	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69238882A>G	ENST00000310673.3	+	2	1163	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	337					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTAAAAAATATGTGTAGATC	0.269																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1009-1011)Atg>Gtg		sperm equatorial segment protein 1							39.0	42.0	41.0					15																	69238882		1990	4140	6130	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238882A>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.1009A>G	15.37:g.69238882A>G	ENSP00000312284:p.Met337Val					RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	p.M337V	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	1163	+			337					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.1009A>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	0.149	-1.093309	0.01858	.	.	ENSG00000258484	ENST00000310673	T	0.18810	2.19	4.94	1.23	0.21249	.	1.099980	0.07012	N	0.825205	T	0.09992	0.0245	N	0.14661	0.345	0.80722	D	1	B	0.32573	0.376	B	0.27887	0.084	T	0.33085	-0.9882	10	0.29301	T	0.29	-0.7718	2.6801	0.05091	0.5967:0.0:0.2104:0.1929	.	337	Q6UW49	SPESP_HUMAN	V	337	ENSP00000312284:M337V	ENSP00000312284:M337V	M	+	1	0	SPESP1	67025936	1.000000	0.71417	0.987000	0.45799	0.089000	0.18198	1.328000	0.33758	0.851000	0.35264	0.533000	0.62120	ATG		0.269	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		64	230	0	0	0	1	0	64	230				
OR1L6	392390	broad.mit.edu	37	9	125512172	125512172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512172C>A	ENST00000373684.1	+	1	154	c.154C>A	c.(154-156)Ctg>Atg	p.L52M	OR1L6_ENST00000304720.2_Missense_Mutation_p.L16M			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTTCATCCTCCTGGGCCTCTC	0.542																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(154-156)Ctg>Atg		olfactory receptor, family 1, subfamily L, member 6							184.0	173.0	176.0					9																	125512172		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512172C>A		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.154C>A	9.37:g.125512172C>A	ENSP00000362788:p.Leu52Met					OR1L6_ENST00000304720.2_Missense_Mutation_p.L16M	p.L52M			Q8NGR2	OR1L6_HUMAN			1	154	+			52					Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.154C>A		.	.	.	.	.	.	.	.	.	.	.	13.22	2.171199	0.38315	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00637	6.05;6.05	4.55	3.65	0.41850	.	0.000000	0.39475	N	0.001356	T	0.02012	0.0063	L	0.46947	1.48	0.28760	N	0.900933	D	0.76494	0.999	D	0.85130	0.997	T	0.31336	-0.9947	10	0.56958	D	0.05	-10.2205	10.6813	0.45815	0.0:0.9051:0.0:0.0949	.	52	Q8NGR2	OR1L6_HUMAN	M	52;16	ENSP00000362788:L52M;ENSP00000304235:L16M	ENSP00000304235:L16M	L	+	1	2	OR1L6	124551993	0.000000	0.05858	0.994000	0.49952	0.500000	0.33767	-0.367000	0.07553	1.267000	0.44247	-0.140000	0.14226	CTG		0.542	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				37	799	1	0	1.30998e-17	1	1.44773e-17	37	799				
NAGK	55577	broad.mit.edu	37	2	71305565	71305565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71305565G>T	ENST00000244204.6	+	10	1024	c.962G>T	c.(961-963)aGg>aTg	p.R321M	NAGK_ENST00000443938.2_Missense_Mutation_p.R317M|NAGK_ENST00000455662.2_Missense_Mutation_p.R367M|NAGK_ENST00000443872.2_Missense_Mutation_p.R173M|NAGK_ENST00000418807.3_Missense_Mutation_p.R270M			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	321					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTAGGGGCCAGGCACATCGGG	0.617																																						ENST00000418807.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18						c.(808-810)aGg>aTg		N-acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						34.0	32.0	33.0					2																	71305565		2203	4294	6497	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71305565G>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.962G>T	2.37:g.71305565G>T	ENSP00000244204:p.Arg321Met					NAGK_ENST00000455662.2_Missense_Mutation_p.R367M|NAGK_ENST00000244204.5_Missense_Mutation_p.R321M	p.R270M			Q9UJ70	NAGK_HUMAN			9	973	+			321					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.809G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.91|18.91|18.91	3.723219|3.723219|3.723219	0.68959|0.68959|0.68959	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000524537|ENST00000244204;ENST00000455662;ENST00000418807	.|.|T;T;T	.|.|0.48201	.|.|1.41;1.38;0.82	4.82|4.82|4.82	0.615|0.615|0.615	0.17608|0.17608|0.17608	.|.|.	.|.|0.352887	.|.|0.31834	.|.|N	.|.|0.006984	T|T|T	0.39200|0.39200|0.39200	0.1069|0.1069|0.1069	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.49687|0.49687|0.49687	D|D|D	0.99981|0.99981|0.99981	.|.|B	.|.|0.30439	.|.|0.279	.|.|B	.|.|0.32022	.|.|0.139	T|T|T	0.30534|0.30534|0.30534	-0.9975|-0.9975|-0.9975	5|5|10	.|.|0.66056	.|.|D	.|.|0.02	-13.0177|-13.0177|-13.0177	4.3929|4.3929|4.3929	0.11350|0.11350|0.11350	0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617	.|.|.	.|.|321	.|.|Q9UJ70	.|.|NAGK_HUMAN	C|H|M	339|85|321;367;270	.|.|ENSP00000244204:R321M;ENSP00000389087:R367M;ENSP00000396070:R270M	.|.|ENSP00000244204:R321M	G|Q|R	+|+|+	1|3|2	0|2|0	NAGK|NAGK|NAGK	71159073|71159073|71159073	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	0.697000|0.697000|0.697000	0.25556|0.25556|0.25556	0.559000|0.559000|0.559000	0.29153|0.29153|0.29153	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGC|CAG|AGG		0.617	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			35	124	1	0	8.4185e-14	1	9.11178e-14	35	124				
TICRR	90381	broad.mit.edu	37	15	90166933	90166933	+	Missense_Mutation	SNP	C	C	T	rs201365800	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90166933C>T	ENST00000268138.7	+	20	3497	c.3392C>T	c.(3391-3393)cCg>cTg	p.P1131L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.P1130L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1131					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCACAAACTCCGTTGTATACT	0.448													C|||	9	0.00179712	0.0	0.0	5008	,	,		17906	0.0		0.0	False		,,,				2504	0.0092					ENST00000268138.7																			0											c.(3391-3393)cCg>cTg		TOPBP1-interacting checkpoint and replication regulator		C	LEU/PRO	0,3696		0,0,1848	165.0	163.0	163.0		3392	2.2	0.0	15		163	1,8177		0,1,4088	no	missense	C15orf42	NM_152259.3	98	0,1,5936	TT,TC,CC		0.0122,0.0,0.0084	benign	1131/1911	90166933	1,11873	1848	4089	5937	SO:0001583	missense	90381							g.chr15:90166933C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3392C>T	15.37:g.90166933C>T	ENSP00000268138:p.Pro1131Leu					KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.P1130L	p.P1131L							20	3497	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.3392C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	7.448	0.642108	0.14451	0.0	1.22E-4	ENSG00000140534	ENST00000268138	T	0.09073	3.02	5.27	2.25	0.28309	.	0.208995	0.41938	N	0.000787	T	0.05456	0.0144	L	0.28740	0.885	0.09310	N	0.999999	B	0.17667	0.023	B	0.15052	0.012	T	0.39354	-0.9618	10	0.27785	T	0.31	-3.4785	5.3512	0.16036	0.1595:0.6522:0.0:0.1883	.	1131	Q7Z2Z1	TICRR_HUMAN	L	1131	ENSP00000268138:P1131L	ENSP00000268138:P1131L	P	+	2	0	C15orf42	87967937	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.593000	0.23999	0.165000	0.19558	-0.217000	0.12591	CCG		0.448	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		180	858	0	0	0	1	0	180	858				
ITPKB	3707	broad.mit.edu	37	1	226835049	226835049	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835049G>T	ENST00000272117.3	-	3	2064	c.2065C>A	c.(2065-2067)Ctg>Atg	p.L689M	ITPKB_ENST00000429204.1_Missense_Mutation_p.L689M			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	689					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCTTCTTCAGGATCCTGCCA	0.602																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2065-2067)Ctg>Atg		inositol-trisphosphate 3-kinase B							69.0	62.0	64.0					1																	226835049		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226835049G>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2065C>A	1.37:g.226835049G>T	ENSP00000272117:p.Leu689Met					ITPKB_ENST00000272117.3_Missense_Mutation_p.L689M	p.L689M	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			4	2392	-		Prostate(94;0.0773)	689					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2065C>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660264	0.67586	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16743	2.32;2.32	5.19	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.85630	2.765	0.49130	D	0.999755	D	0.89917	1.0	D	0.85130	0.997	T	0.53315	-0.8456	10	0.72032	D	0.01	-14.7074	14.6107	0.68514	0.0829:0.0:0.9171:0.0	.	689	P27987	IP3KB_HUMAN	M	689	ENSP00000272117:L689M;ENSP00000411152:L689M	ENSP00000272117:L689M	L	-	1	2	ITPKB	224901672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.320000	0.72876	2.429000	0.82318	0.655000	0.94253	CTG		0.602	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		17	150	1	0	1.67942e-08	1	1.75525e-08	17	150				
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(1390-1392)Ctg>Atg		RNA binding motif protein 42							110.0	109.0	109.0					19																	36128403		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36128403C>A	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1390C>A	19.37:g.36128403C>A	ENSP00000262633:p.Leu464Met					RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M	p.L464M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		10	1495	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		464			Necessary for interaction with HNRNPK (By similarity).		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.1390C>A	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262941	0.39995	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06528	3.29;3.34	6.07	5.04	0.67666	.	0.171732	0.48767	D	0.000162	T	0.06872	0.0175	L	0.28014	0.82	0.47341	D	0.999399	P;B;P;B	0.44659	0.56;0.22;0.84;0.141	B;B;P;B	0.48304	0.437;0.101;0.573;0.047	T	0.30179	-0.9987	10	0.31617	T	0.26	-10.995	7.2472	0.26129	0.1696:0.7478:0.0:0.0826	.	430;435;434;464	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	M	464;435	ENSP00000262633:L464M;ENSP00000353663:L435M	ENSP00000262633:L464M	L	+	1	2	RBM42	40820243	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.934000	0.40163	2.885000	0.99019	0.655000	0.94253	CTG		0.617	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		46	263	1	0	2.215e-12	1	2.3786e-12	46	263				
LILRA6	79168	broad.mit.edu	37	19	54745706	54745706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54745706G>A	ENST00000396365.2	-	4	443	c.404C>T	c.(403-405)gCc>gTc	p.A135V	LILRA6_ENST00000440558.2_Missense_Mutation_p.A135V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V|LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	135					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCCCTGAGGCCACCACAGG	0.562																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(403-405)gCc>gTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							42.0	71.0	61.0					19																	54745706		2126	4294	6420	SO:0001583	missense	79168							g.chr19:54745706G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.404C>T	19.37:g.54745706G>A	ENSP00000379651:p.Ala135Val					LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000396365.2_Missense_Mutation_p.A135V	p.A135V						GBM - Glioblastoma multiforme(193;0.105)	4	452	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.404C>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951506	0.34471	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;4.09;2.68;2.68	3.4	2.34	0.29019	Immunoglobulin-like fold (1);	1.765360	0.02642	N	0.105493	T	0.35335	0.0928	M	0.72353	2.195	0.09310	N	1	B;B;P;P;P;P	0.51791	0.413;0.354;0.803;0.617;0.796;0.948	B;B;P;B;P;D	0.63192	0.352;0.26;0.472;0.255;0.471;0.912	T	0.02877	-1.1099	10	0.59425	D	0.04	.	6.8117	0.23809	0.1364:0.0:0.8636:0.0	.	135;135;135;135;135;135	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	V	135	ENSP00000390120:A135V;ENSP00000270464:A135V;ENSP00000411227:A135V;ENSP00000375615:A135V;ENSP00000379651:A135V;ENSP00000245621:A135V	ENSP00000245621:A135V	A	-	2	0	LILRA6	59437518	0.024000	0.19004	0.052000	0.19188	0.049000	0.14656	2.509000	0.45459	0.789000	0.33779	0.184000	0.17185	GCC		0.562	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		85	935	0	0	0	1	0	85	935				
CASC4	113201	broad.mit.edu	37	15	44695169	44695169	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44695169T>C	ENST00000299957.6	+	9	1456	c.1157T>C	c.(1156-1158)gTa>gCa	p.V386A	CASC4_ENST00000345795.2_Intron|CASC4_ENST00000360824.3_Intron|RP11-516C1.1_ENST00000558047.1_RNA	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	386						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GATGGTAACGTAGGTGAGTAT	0.507																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(1156-1158)gTa>gCa		cancer susceptibility candidate 4							139.0	109.0	120.0					15																	44695169		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44695169T>C	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000299957.6:c.1157T>C	15.37:g.44695169T>C	ENSP00000299957:p.Val386Ala					CASC4_ENST00000345795.2_Intron|CASC4_ENST00000360824.3_Intron|RP11-516C1.1_ENST00000558047.1_RNA	p.V386A	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	9	1456	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	386					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000299957.6	37	c.1157T>C	CCDS10108.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299781	0.81136	.	.	ENSG00000166734	ENST00000299957;ENST00000416522	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.73745	0.3626	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.68930	-0.5279	9	0.07813	T	0.8	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	386;386	G5E934;Q6P4E1	.;CASC4_HUMAN	A	386;365	.	ENSP00000299957:V386A	V	+	2	0	CASC4	42482461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.993000	0.88291	2.326000	0.78906	0.533000	0.62120	GTA		0.507	CASC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253815.1	NM_138423		46	176	0	0	0	1	0	46	176				
MIR99AHG	388815	broad.mit.edu	37	21	17603377	17603377	+	lincRNA	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17603377T>A	ENST00000458468.1	+	0	411					NR_027790.1																						ATTTTTCAGATCTTCAGGAAT	0.269																																						ENST00000458468.1																			0																				56.0	64.0	61.0					21																	17603377		2187	4261	6448			0							g.chr21:17603377T>A																													21.37:g.17603377T>A								NR_027790.1						0	411	+									RNA	SNP	ENST00000458468.1	37																																																																																						0.269	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			35	184	0	0	0	1	0	35	184				
APLF	200558	broad.mit.edu	37	2	68753207	68753207	+	Missense_Mutation	SNP	G	G	A	rs542229761		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68753207G>A	ENST00000303795.4	+	6	808	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	213					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGTAATCCAGGGAAGTGGAAA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		16825	0.0		0.0	False		,,,				2504	0.001					ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(637-639)Gga>Aga		aprataxin and PNKP like factor							55.0	58.0	57.0					2																	68753207		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68753207G>A	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.637G>A	2.37:g.68753207G>A	ENSP00000307004:p.Gly213Arg						p.G213R	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			6	808	+			213					A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.637G>A	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	g	1.081	-0.666915	0.03428	.	.	ENSG00000169621	ENST00000303795	T	0.22743	1.94	4.29	-0.604	0.11626	.	1.283240	0.04864	N	0.444746	T	0.12902	0.0313	L	0.28274	0.84	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.001	T	0.29119	-1.0022	10	0.07030	T	0.85	.	7.258	0.26187	0.5238:0.0:0.4762:0.0	.	213;213	F8WET0;Q8IW19	.;APLF_HUMAN	R	213	ENSP00000307004:G213R	ENSP00000307004:G213R	G	+	1	0	APLF	68606711	0.010000	0.17322	0.050000	0.19076	0.897000	0.52465	0.484000	0.22308	-0.120000	0.11809	0.585000	0.79938	GGA		0.308	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		69	224	0	0	0	1	0	69	224				
PRX	57716	broad.mit.edu	37	19	40904649	40904649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40904649C>T	ENST00000324001.7	-	6	529	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PRX_ENST00000291825.7_Missense_Mutation_p.A87T	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	87	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAAGGCTCGGCGCATTGCAGC	0.647																																						ENST00000291825.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(259-261)Gcc>Acc		periaxin							71.0	62.0	65.0					19																	40904649		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40904649C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.259G>A	19.37:g.40904649C>T	ENSP00000326018:p.Ala87Thr					PRX_ENST00000324001.7_Missense_Mutation_p.A87T	p.A87T	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	527	-			87			PDZ.		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.259G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177345	0.78564	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.04015	3.73;3.73	5.18	5.18	0.71444	PDZ/DHR/GLGF (2);	0.055231	0.64402	D	0.000001	T	0.16041	0.0386	L	0.46819	1.47	0.53005	D	0.999968	D;D	0.76494	0.997;0.999	P;D	0.66847	0.715;0.947	T	0.00249	-1.1879	10	0.66056	D	0.02	-21.7664	17.4638	0.87627	0.0:1.0:0.0:0.0	.	87;87	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	T	87	ENSP00000326018:A87T;ENSP00000291825:A87T	ENSP00000291825:A87T	A	-	1	0	PRX	45596489	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.163000	0.58183	2.433000	0.82419	0.561000	0.74099	GCC		0.647	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		56	298	0	0	0	1	0	56	298				
THOC1	9984	broad.mit.edu	37	18	265516	265516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265516C>A	ENST00000261600.6	-	2	76	c.69G>T	c.(67-69)gaG>gaT	p.E23D	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	23					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGTTCAAGGCCTCTCTGGTAG	0.323																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(67-69)gaG>gaT		THO complex 1							70.0	65.0	66.0					18																	265516		1823	4069	5892	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:265516C>A	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.69G>T	18.37:g.265516C>A	ENSP00000261600:p.Glu23Asp					THOC1_ENST00000582313.1_5'UTR	p.E23D	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			2	76	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	23					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.69G>T	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864297	0.32977	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	0.254	0.15557	.	0.208574	0.49916	D	0.000131	T	0.19446	0.0467	N	0.08118	0	0.35667	D	0.813024	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04029	-1.0983	9	0.33940	T	0.23	-15.4522	1.6694	0.02808	0.1147:0.2986:0.199:0.3877	.	23;23	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	23	.	ENSP00000261600:E23D	E	-	3	2	THOC1	255516	0.439000	0.25610	1.000000	0.80357	0.999000	0.98932	-0.300000	0.08243	0.372000	0.24591	0.650000	0.86243	GAG		0.323	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		4	39	1	0	0.00909568	1	0.00914726	4	39				
NETO1	81832	broad.mit.edu	37	18	70532465	70532465	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70532465A>C	ENST00000327305.6	-	2	697	c.40T>G	c.(40-42)Tta>Gta	p.L14V	NETO1_ENST00000299430.2_Missense_Mutation_p.L13V|NETO1_ENST00000397929.1_Missense_Mutation_p.L13V|NETO1_ENST00000583169.1_Missense_Mutation_p.L14V|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	14					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGGATGATTAAACTTGCTACA	0.299																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(40-42)Tta>Gta		neuropilin (NRP) and tolloid (TLL)-like 1							74.0	70.0	72.0					18																	70532465		2203	4297	6500	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70532465A>C	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.40T>G	18.37:g.70532465A>C	ENSP00000313088:p.Leu14Val					NETO1_ENST00000299430.2_Missense_Mutation_p.L13V|NETO1_ENST00000583169.1_Missense_Mutation_p.L14V|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.L13V	p.L14V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	2	697	-		Esophageal squamous(42;0.129)	14					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.40T>G	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299055	0.40694	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.27402	1.88;1.67;1.72	5.77	4.48	0.54585	.	0.000000	0.43919	D	0.000502	T	0.18923	0.0454	N	0.24115	0.695	0.41532	D	0.988462	B;B;B	0.26147	0.143;0.062;0.017	B;B;B	0.25506	0.061;0.056;0.01	T	0.08513	-1.0718	10	0.72032	D	0.01	-0.6025	5.8898	0.18904	0.7757:0.0:0.2243:0.0	.	13;13;14	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	V	14;13;13	ENSP00000313088:L14V;ENSP00000299430:L13V;ENSP00000381024:L13V	ENSP00000299430:L13V	L	-	1	2	NETO1	68683445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.645000	0.46621	2.340000	0.79590	0.528000	0.53228	TTA		0.299	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		4	106	0	0	0	1	0	4	106				
PPP1R16A	84988	broad.mit.edu	37	8	145725514	145725514	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145725514A>C	ENST00000292539.4	+	5	1429	c.512A>C	c.(511-513)aAc>aCc	p.N171T	CTD-2517M22.14_ENST00000532766.1_RNA|GPT_ENST00000528431.1_5'Flank|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	171						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCGACGGGAACATGCCCTAT	0.657																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(511-513)aAc>aCc		protein phosphatase 1, regulatory subunit 16A							123.0	78.0	93.0					8																	145725514		2200	4299	6499	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145725514A>C		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.512A>C	8.37:g.145725514A>C	ENSP00000292539:p.Asn171Thr					PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|CTD-2517M14.5_ENST00000569326.1_RNA	p.N171T			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	1429	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		171					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.512A>C	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765820	0.90020	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.53640	0.61;0.61	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.56238	-0.8012	10	0.41790	T	0.15	.	13.1298	0.59375	1.0:0.0:0.0:0.0	.	171	Q96I34	PP16A_HUMAN	T	171	ENSP00000292539:N171T;ENSP00000391126:N171T	ENSP00000292539:N171T	N	+	2	0	PPP1R16A	145696322	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.221000	0.58574	1.996000	0.58369	0.459000	0.35465	AAC		0.657	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		11	82	0	0	0	1	0	11	82				
XIRP1	165904	broad.mit.edu	37	3	39228903	39228903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39228903C>T	ENST00000340369.3	-	2	2262	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R678R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	678					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCTCACAGGCCGTCTTCCAC	0.592																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(2032-2034)cgG>cgA		xin actin-binding repeat containing 1							38.0	42.0	41.0					3																	39228903		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39228903C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2034G>A	3.37:g.39228903C>T						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R678R	p.R678R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2262	-			678					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.2034G>A	CCDS2683.1																																																																																				0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		68	281	0	0	0	1	0	68	281				
SZT2	23334	broad.mit.edu	37	1	43885853	43885853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43885853C>A	ENST00000562955.1	+	9	1120	c.1120C>A	c.(1120-1122)Ctg>Atg	p.L374M	SZT2_ENST00000372442.1_5'Flank	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	374					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TAATGAGCACCTGGTCTCTGC	0.577																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(1120-1122)Ctg>Atg		seizure threshold 2 homolog (mouse)							81.0	72.0	75.0					1																	43885853		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43885853C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.1120C>A	1.37:g.43885853C>A	ENSP00000457168:p.Leu374Met						p.L374M	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			9	1120	+			374					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.1120C>A	CCDS30694.2																																																																																				0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		17	194	1	0	7.45023e-12	1	7.97024e-12	17	194				
ENOX2	10495	broad.mit.edu	37	X	129801587	129801587	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129801587A>G	ENST00000370927.1	-	6	932	c.911T>C	c.(910-912)gTg>gCg	p.V304A	ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A|ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A|ENOX2_ENST00000338144.3_Missense_Mutation_p.V304A			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	304					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTTCTCGTTCACCAGGCGGCG	0.502																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(910-912)gTg>gCg		ecto-NOX disulfide-thiol exchanger 2							212.0	195.0	201.0					X																	129801587		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129801587A>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.911T>C	X.37:g.129801587A>G	ENSP00000359965:p.Val304Ala					ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A|ENOX2_ENST00000370927.1_Missense_Mutation_p.V304A|ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A	p.V304A	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			9	1328	-			304					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.911T>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230892	0.39399	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.28666	1.6;1.6	5.17	5.17	0.71159	.	0.352395	0.29868	N	0.010999	T	0.18467	0.0443	N	0.14661	0.345	0.29624	N	0.846001	B;B	0.21753	0.033;0.06	B;B	0.24006	0.034;0.05	T	0.13150	-1.0520	9	.	.	.	-14.955	11.7708	0.51958	1.0:0.0:0.0:0.0	.	304;332	Q16206;A4QPE1	ENOX2_HUMAN;.	A	275;275;304;275;332;304;275	ENSP00000337146:V304A;ENSP00000359965:V304A	.	V	-	2	0	ENOX2	129629268	0.999000	0.42202	0.973000	0.42090	0.931000	0.56810	4.650000	0.61440	1.908000	0.55244	0.481000	0.45027	GTG		0.502	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		18	1168	0	0	0	1	0	18	1168				
AVPR1B	553	broad.mit.edu	37	1	206225109	206225109	+	Silent	SNP	C	C	T	rs537657375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206225109C>T	ENST00000367126.4	+	1	1134	c.669C>T	c.(667-669)tgC>tgT	p.C223C	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	223					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCATCTGCCATGAGATCT	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16213	0.0		0.0	False		,,,				2504	0.0					ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(667-669)tgC>tgT		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						51.0	53.0	52.0					1																	206225109		2203	4299	6502	SO:0001819	synonymous_variant	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206225109C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.669C>T	1.37:g.206225109C>T							p.C223C	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	1134	+			223					B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	37	c.669C>T	CCDS30994.1																																																																																				0.607	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		98	421	0	0	0	1	0	98	421				
AKAP6	9472	broad.mit.edu	37	14	33004822	33004822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33004822C>A	ENST00000280979.4	+	3	557	c.387C>A	c.(385-387)ttC>ttA	p.F129L	AKAP6_ENST00000557354.1_Missense_Mutation_p.F129L|AKAP6_ENST00000557272.1_Missense_Mutation_p.F129L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	129					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAACAGAGTTCTCCCTAAAGC	0.473																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(385-387)ttC>ttA		A kinase (PRKA) anchor protein 6							153.0	129.0	137.0					14																	33004822		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33004822C>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.387C>A	14.37:g.33004822C>A	ENSP00000280979:p.Phe129Leu					AKAP6_ENST00000557272.1_Missense_Mutation_p.F129L|AKAP6_ENST00000557354.1_Missense_Mutation_p.F129L	p.F129L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	3	557	+	Breast(36;0.0388)|Prostate(35;0.15)		129					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.387C>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748501	0.69533	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.35605	2.56;1.32;1.3	5.8	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.66939	2.045	0.47476	D	0.999432	D;D	0.69078	0.997;0.997	D;D	0.70716	0.97;0.97	T	0.53697	-0.8402	10	0.87932	D	0	-14.2245	6.5087	0.22210	0.0:0.6851:0.0:0.3149	.	129;129	A7E242;Q13023	.;AKAP6_HUMAN	L	129	ENSP00000280979:F129L;ENSP00000450531:F129L;ENSP00000451247:F129L	ENSP00000280979:F129L	F	+	3	2	AKAP6	32074573	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	2.117000	0.41939	1.460000	0.47911	-0.229000	0.12294	TTC		0.473	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	519	1	0	0.000157383	1	0.000159814	8	519				
WDR55	54853	broad.mit.edu	37	5	140048517	140048517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140048517G>A	ENST00000358337.5	+	5	839	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	201					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGGCGTCGGTTTGAGCTG	0.527																																						ENST00000358337.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(601-603)cGg>cAg		WD repeat domain 55							84.0	78.0	80.0					5																	140048517		2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140048517G>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.602G>A	5.37:g.140048517G>A	ENSP00000351100:p.Arg201Gln					WDR55_ENST00000520764.1_3'UTR	p.R201Q	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	839	+			201					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.602G>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879096	0.72294	.	.	ENSG00000120314	ENST00000358337	T	0.28069	1.63	5.44	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.42471	0.1204	M	0.66939	2.045	0.53005	D	0.999968	D;D	0.69078	0.993;0.997	P;P	0.58331	0.837;0.808	T	0.46596	-0.9180	10	0.05525	T	0.97	-10.756	13.3211	0.60434	0.0779:0.0:0.922:0.0	.	40;201	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	Q	201	ENSP00000351100:R201Q	ENSP00000351100:R201Q	R	+	2	0	WDR55	140028701	1.000000	0.71417	0.993000	0.49108	0.485000	0.33311	9.449000	0.97603	1.289000	0.44618	0.467000	0.42956	CGG		0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		66	296	0	0	0	1	0	66	296				
TNK1	8711	broad.mit.edu	37	17	7291949	7291949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7291949C>A	ENST00000576812.1	+	11	2086	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	TNK1_ENST00000570896.1_Missense_Mutation_p.P568T|TNK1_ENST00000311668.2_Missense_Mutation_p.P568T	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATGGGAATGCCTGGAGCCCG	0.577																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(1702-1704)Cct>Act		tyrosine kinase, non-receptor, 1							49.0	55.0	53.0					17																	7291949		1889	4125	6014	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7291949C>A	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1717C>A	17.37:g.7291949C>A	ENSP00000459799:p.Pro573Thr					TNK1_ENST00000311668.2_Missense_Mutation_p.P568T|TNK1_ENST00000576812.1_Missense_Mutation_p.P573T	p.P568T			Q13470	TNK1_HUMAN			12	2148	+		Prostate(122;0.157)	573			Pro-rich.			Missense_Mutation	SNP	ENST00000576812.1	37	c.1702C>A	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	C	7.371	0.626753	0.14257	.	.	ENSG00000174292	ENST00000311668	T	0.76968	-1.06	5.26	3.28	0.37604	.	0.460571	0.18670	N	0.134461	T	0.58509	0.2127	N	0.08118	0	0.24072	N	0.995972	B;B	0.31548	0.328;0.22	B;B	0.34242	0.178;0.086	T	0.54091	-0.8345	10	0.66056	D	0.02	.	7.5516	0.27800	0.0:0.7366:0.0:0.2634	.	568;573	Q13470-2;Q13470	.;TNK1_HUMAN	T	568	ENSP00000312309:P568T	ENSP00000312309:P568T	P	+	1	0	TNK1	7232673	0.019000	0.18553	0.432000	0.26747	0.022000	0.10575	-0.037000	0.12164	0.735000	0.32537	0.655000	0.94253	CCT		0.577	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		44	224	1	0	6.5261e-18	1	7.22248e-18	44	224				
ATP2A1	487	broad.mit.edu	37	16	28913250	28913250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913250G>A	ENST00000357084.3	+	16	2434	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S|ATP2A1_ENST00000395503.4_Missense_Mutation_p.G723S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	723					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGGGATCTGGCACTGCCGT	0.597																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2167-2169)Ggc>Agc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							98.0	75.0	83.0					16																	28913250		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913250G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2167G>A	16.37:g.28913250G>A	ENSP00000349595:p.Gly723Ser					ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S|ATP2A1_ENST00000357084.3_Missense_Mutation_p.G723S	p.G723S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			16	2351	+			723					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2167G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311291	0.95655	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99214	-5.57;-5.57;-5.57	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.048624	0.85682	D	0.000000	D	0.99648	0.9870	H	0.97962	4.115	0.80722	D	1	D;D;D	0.58970	0.984;0.98;0.96	P;P;D	0.64042	0.796;0.835;0.921	D	0.97501	1.0060	10	0.87932	D	0	.	17.6376	0.88127	0.0:0.0:1.0:0.0	.	598;723;723	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	723;723;760;598	ENSP00000349595:G723S;ENSP00000378879:G723S;ENSP00000443101:G598S	ENSP00000349595:G723S	G	+	1	0	ATP2A1	28820751	1.000000	0.71417	0.922000	0.36590	0.900000	0.52787	9.761000	0.98940	2.460000	0.83146	0.561000	0.74099	GGC		0.597	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		44	164	0	0	0	1	0	44	164				
C17orf51	339263	broad.mit.edu	37	17	21477615	21477615	+	5'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21477615G>A	ENST00000535846.1	-	0	107				RP11-822E23.6_ENST00000536958.2_RNA|RP11-822E23.8_ENST00000426261.2_RNA			A8MQB3	CQ051_HUMAN	chromosome 17 open reading frame 51											endometrium(1)	1						atccggagacgctcctgtgga	0.687																																						ENST00000536958.2																			0																																																	SO:0001623	5_prime_UTR_variant	0							g.chr17:21477615G>A	BC010612	CCDS45629.1	17p11.2	2012-10-11			ENSG00000212719	ENSG00000212719			27904	protein-coding gene	gene with protein product							Standard	XM_005256621		Approved	FLJ12977, FLJ31874, FLJ33618	uc002gyw.4	A8MQB3	OTTHUMG00000132832	ENST00000535846.1:c.-601C>T	17.37:g.21477615G>A														0	166	-								B2RN29|B5MCL4	RNA	SNP	ENST00000535846.1	37																																																																																						0.687	C17orf51-003	KNOWN	basic|readthrough_transcript	processed_transcript	protein_coding	OTTHUMT00000395737.1	NM_001113434		21	75	0	0	0	1	0	21	75				
GAREM	64762	broad.mit.edu	37	18	29867839	29867839	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29867839C>T	ENST00000269209.6	-	4	724	c.721G>A	c.(721-723)Gag>Aag	p.E241K	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.E241K			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	241	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CTGGTTTTCTCCACAATGTTG	0.527																																						ENST00000399218.4																			0											c.(721-723)Gag>Aag		GRB2 associated, regulator of MAPK1							185.0	156.0	166.0					18																	29867839		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867839C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.721G>A	18.37:g.29867839C>T	ENSP00000269209:p.Glu241Lys					GAREM_ENST00000269209.6_Missense_Mutation_p.E241K|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'UTR	p.E241K	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	776	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.721G>A	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224979	0.95173	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15139	2.45;2.45	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	L	0.57536	1.79	0.80722	D	1	D;P	0.76494	0.999;0.925	D;P	0.83275	0.996;0.891	T	0.11717	-1.0576	10	0.87932	D	0	-30.664	20.0679	0.97707	0.0:1.0:0.0:0.0	.	241;241	Q9H706;Q9H706-3	FA59A_HUMAN;.	K	241	ENSP00000382165:E241K;ENSP00000269209:E241K	ENSP00000269209:E241K	E	-	1	0	FAM59A	28121837	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.398000	0.79919	2.821000	0.97095	0.561000	0.74099	GAG		0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		75	357	0	0	0	1	0	75	357				
CRB1	23418	broad.mit.edu	37	1	197316584	197316584	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197316584C>T	ENST00000367400.3	+	4	1098	c.963C>T	c.(961-963)gaC>gaT	p.D321D	CRB1_ENST00000535699.1_Silent_p.D252D|CRB1_ENST00000543483.1_Silent_p.D20D|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.D321D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	321	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGTGTTGACAATTACACTT	0.408																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(961-963)gaC>gaT		crumbs homolog 1 (Drosophila)							155.0	124.0	135.0					1																	197316584		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197316584C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.963C>T	1.37:g.197316584C>T						CRB1_ENST00000538660.1_Silent_p.D321D|CRB1_ENST00000535699.1_Silent_p.D252D|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_Silent_p.D20D	p.D321D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			4	1098	+			321			EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.963C>T	CCDS1390.1																																																																																				0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		62	346	0	0	0	1	0	62	346				
NCAPH2	29781	broad.mit.edu	37	22	50956564	50956564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50956564G>A	ENST00000420993.2	+	7	625	c.503G>A	c.(502-504)cGt>cAt	p.R168H	NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H|NCAPH2_ENST00000395701.3_Missense_Mutation_p.R168H	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGCACAGCCGTCAGGGTGAG	0.627																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(502-504)cGt>cAt		non-SMC condensin II complex, subunit H2							47.0	52.0	50.0					22																	50956564		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50956564G>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.503G>A	22.37:g.50956564G>A	ENSP00000410088:p.Arg168His					NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H|NCAPH2_ENST00000420993.2_Missense_Mutation_p.R168H|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H	p.R168H			Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	7	597	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	168					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.503G>A	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102033	0.56183	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	5.23	4.22	0.49857	.	0.334684	0.31747	N	0.007121	T	0.48572	0.1507	L	0.43152	1.355	0.27283	N	0.958041	D;D;D;D	0.89917	1.0;0.992;0.993;0.997	P;P;P;P	0.61592	0.891;0.809;0.88;0.754	T	0.39057	-0.9632	9	0.15066	T	0.55	-4.0E-4	12.5423	0.56179	0.0813:0.0:0.9187:0.0	.	168;168;168;168	G3XAG4;Q6IBW4-4;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	H	168;168;168;134;168	.	ENSP00000299821:R168H	R	+	2	0	NCAPH2	49303430	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	2.777000	0.47717	1.217000	0.43442	-0.379000	0.06801	CGT		0.627	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		11	236	0	0	0	1	0	11	236				
HMHA1	23526	broad.mit.edu	37	19	1073969	1073969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073969C>T	ENST00000313093.2	+	6	977	c.746C>T	c.(745-747)cCg>cTg	p.P249L	HMHA1_ENST00000539243.2_Missense_Mutation_p.P265L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L|HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|HMHA1_ENST00000590214.1_Missense_Mutation_p.P276L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P132L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	249					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTATGGACCGGGCAGTGAG	0.677																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(745-747)cCg>cTg		histocompatibility (minor) HA-1							14.0	16.0	16.0					19																	1073969		2194	4287	6481	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073969C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.746C>T	19.37:g.1073969C>T	ENSP00000316772:p.Pro249Leu					HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|HMHA1_ENST00000539243.2_Missense_Mutation_p.P265L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P132L|HMHA1_ENST00000590214.1_Missense_Mutation_p.P276L	p.P249L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	977	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	249					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.746C>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	8.933	0.963844	0.18583	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.21031	2.04;2.06;2.09;2.03	3.79	-5.7	0.02421	.	2.021690	0.02590	N	0.099859	T	0.12689	0.0308	L	0.31926	0.97	0.09310	N	1	B;P;B;B	0.34864	0.052;0.473;0.344;0.226	B;B;B;B	0.25614	0.012;0.062;0.039;0.028	T	0.21449	-1.0245	10	0.28530	T	0.3	-0.0795	8.0782	0.30729	0.5429:0.3739:0.0:0.0831	.	89;265;132;249	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	L	265;249;249;89;243;132	ENSP00000439601:P265L;ENSP00000316772:P249L;ENSP00000445109:P89L;ENSP00000438979:P132L	ENSP00000316772:P249L	P	+	2	0	HMHA1	1024969	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.461000	0.06712	-0.701000	0.05063	0.491000	0.48974	CCG		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			3	58	0	0	0	1	0	3	58				
OR2H2	7932	broad.mit.edu	37	6	29556596	29556596	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556596A>G	ENST00000383640.2	+	1	914	c.875A>G	c.(874-876)aAc>aGc	p.N292S	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	292					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCCTGAGGAACAAGGAGGTA	0.498																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(874-876)aAc>aGc		olfactory receptor, family 2, subfamily H, member 2							46.0	51.0	49.0					6																	29556596		1510	2708	4218	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556596A>G		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.875A>G	6.37:g.29556596A>G	ENSP00000373136:p.Asn292Ser					GABBR1_ENST00000355973.3_Intron	p.N292S	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	914	+			292					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.875A>G	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679557	0.47886	.	.	ENSG00000204657	ENST00000383640	T	0.39997	1.05	4.31	3.12	0.35913	.	0.000000	0.45126	D	0.000396	T	0.44850	0.1313	M	0.64997	1.995	0.23831	N	0.996729	D	0.89917	1.0	D	0.83275	0.996	T	0.35919	-0.9769	10	0.87932	D	0	.	10.013	0.41997	0.8293:0.1707:0.0:0.0	.	292	O95918	OR2H2_HUMAN	S	292	ENSP00000373136:N292S	ENSP00000373136:N292S	N	+	2	0	OR2H2	29664575	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.753000	0.47524	0.658000	0.30925	0.482000	0.46254	AAC		0.498	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			45	190	0	0	0	1	0	45	190				
ZC3H18	124245	broad.mit.edu	37	16	88691101	88691101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88691101G>T	ENST00000301011.5	+	12	2190	c.1990G>T	c.(1990-1992)Gac>Tac	p.D664Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	664	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CAAGCCAGGAGACCCTCGGGA	0.672																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1990-1992)Gac>Tac		zinc finger CCCH-type containing 18							37.0	55.0	49.0					16																	88691101		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88691101G>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1990G>T	16.37:g.88691101G>T	ENSP00000301011:p.Asp664Tyr					ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	p.D664Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	12	2190	+			664			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1990G>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746622	0.30955	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.33216	1.42;1.42	5.38	5.38	0.77491	.	0.098661	0.64402	D	0.000001	T	0.49847	0.1581	L	0.51422	1.61	0.49582	D	0.999801	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.49670	-0.8915	10	0.87932	D	0	-20.5211	17.3162	0.87225	0.0:0.0:1.0:0.0	.	688;664	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Y	664;632;688	ENSP00000301011:D664Y;ENSP00000416951:D688Y	ENSP00000289509:D632Y	D	+	1	0	ZC3H18	87218602	1.000000	0.71417	0.993000	0.49108	0.517000	0.34286	5.129000	0.64739	2.527000	0.85204	0.655000	0.94253	GAC		0.672	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		85	216	1	0	2.93434e-44	1	3.58945e-44	85	216				
MTMR6	9107	broad.mit.edu	37	13	25831394	25831394	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25831394C>A	ENST00000381801.5	-	9	1796	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H	MTMR6_ENST00000482345.1_5'Flank|MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	345	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGGAACAAACCTGGGAAGTCC	0.398																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(1033-1035)caG>caT		myotubularin related protein 6							107.0	96.0	100.0					13																	25831394		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25831394C>A	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1035G>T	13.37:g.25831394C>A	ENSP00000371221:p.Gln345His					MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H	p.Q345H	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	9	1796	-		Lung SC(185;0.0225)|Breast(139;0.0351)	345			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.1035G>T	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550865	0.65311	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91577	-2.87;-2.87	5.49	0.0117	0.14088	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94571	0.7771	10	0.87932	D	0	.	8.9037	0.35510	0.0:0.248:0.0:0.752	.	345;345	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	H	345	ENSP00000443161:Q345H;ENSP00000371221:Q345H	ENSP00000371221:Q345H	Q	-	3	2	MTMR6	24729394	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	0.789000	0.26886	0.035000	0.15519	-0.145000	0.13849	CAG		0.398	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		36	144	1	0	6.33695e-27	1	7.31871e-27	36	144				
C6orf165	154313	broad.mit.edu	37	6	88119631	88119631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88119631G>A	ENST00000507897.1	+	2	157	c.74G>A	c.(73-75)gGa>gAa	p.G25E	C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	25										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCAGCCCATGGAGAGATTGTT	0.333																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(73-75)gGa>gAa		chromosome 6 open reading frame 165							146.0	151.0	149.0					6																	88119631		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88119631G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.74G>A	6.37:g.88119631G>A	ENSP00000426769:p.Gly25Glu					C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E	p.G25E			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	2	157	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	25					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.74G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479913	0.84747	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.34667	1.35;1.37	5.39	5.39	0.77823	.	0.051960	0.85682	D	0.000000	T	0.52240	0.1722	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;P	0.68943	0.961;0.907	T	0.50189	-0.8857	10	0.51188	T	0.08	.	19.1063	0.93296	0.0:0.0:1.0:0.0	.	25;25	Q8IYR0;E1P509	CF165_HUMAN;.	E	25	ENSP00000358575:G25E;ENSP00000422494:G25E	ENSP00000358575:G25E	G	+	2	0	C6orf165	88176350	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.803000	0.91915	2.671000	0.90904	0.655000	0.94253	GGA		0.333	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		92	336	0	0	0	1	0	92	336				
OR7E24	26648	broad.mit.edu	37	19	9362432	9362432	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362432A>C	ENST00000456448.1	+	1	827	c.713A>C	c.(712-714)aAa>aCa	p.K238T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTACTATAAAATTGTTTCC	0.423																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(712-714)aAa>aCa		olfactory receptor, family 7, subfamily E, member 24							28.0	29.0	29.0					19																	9362432		1915	4146	6061	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362432A>C	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.713A>C	19.37:g.9362432A>C	ENSP00000387523:p.Lys238Thr						p.K238T	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	827	+			238					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.713A>C	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	a	14.88	2.666845	0.47677	.	.	ENSG00000237521	ENST00000456448	T	0.00084	8.75	2.21	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.73319	2.225	0.09310	N	1	D	0.67145	0.996	D	0.66196	0.942	T	0.45352	-0.9267	9	0.87932	D	0	.	7.2389	0.26086	0.481:0.0:0.519:0.0	.	238	Q6IFN5	O7E24_HUMAN	T	238	ENSP00000387523:K238T	ENSP00000387523:K238T	K	+	2	0	OR7E24	9223432	0.000000	0.05858	0.000000	0.03702	0.612000	0.37316	-1.031000	0.03578	-0.447000	0.07138	0.358000	0.22013	AAA		0.423	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			21	78	0	0	0	1	0	21	78				
YWHAE	7531	broad.mit.edu	37	17	1257631	1257631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1257631C>T	ENST00000264335.8	-	5	856	c.589G>A	c.(589-591)Gca>Aca	p.A197T	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A175T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	197					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TCAAAAGCTGCTTTTGCCAAC	0.348			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(589-591)Gca>Aca		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							88.0	71.0	77.0					17																	1257631		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1257631C>T	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.589G>A	17.37:g.1257631C>T	ENSP00000264335:p.Ala197Thr					YWHAE_ENST00000571732.1_Missense_Mutation_p.A175T|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	p.A197T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	5	856	-			197					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.589G>A	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020559	0.75275	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.41065	1.01	5.51	5.51	0.81932	14-3-3 domain (4);	0.128998	0.50627	U	0.000101	T	0.27663	0.0680	N	0.11756	0.17	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.06899	-1.0801	10	0.21014	T	0.42	-6.4486	16.9304	0.86189	0.0:1.0:0.0:0.0	.	197	P62258	1433E_HUMAN	T	197;175	ENSP00000264335:A197T	ENSP00000264335:A197T	A	-	1	0	YWHAE	1204381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.885000	0.56182	2.580000	0.87095	0.650000	0.86243	GCA		0.348	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		8	177	0	0	0	1	0	8	177				
ADAMTS19	171019	broad.mit.edu	37	5	129019923	129019923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129019923G>A	ENST00000274487.4	+	18	2902	c.2757G>A	c.(2755-2757)tgG>tgA	p.W919*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	919	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTTCATGTGGACACACACAA	0.423																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2755-2757)tgG>tgA		ADAM metallopeptidase with thrombospondin type 1 motif, 19							90.0	87.0	88.0					5																	129019923		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129019923G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2757G>A	5.37:g.129019923G>A	ENSP00000274487:p.Trp919*					CTC-575N7.1_ENST00000503616.1_RNA	p.W919*	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	18	2902	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	919			TSP type-1 2.			Nonsense_Mutation	SNP	ENST00000274487.4	37	c.2757G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	41	8.818119	0.98966	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	.	W	+	3	0	ADAMTS19	129047822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.301000	0.89951	2.821000	0.97095	0.650000	0.86243	TGG		0.423	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		77	335	0	0	0	1	0	77	335				
STAR	6770	broad.mit.edu	37	8	38002748	38002748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38002748C>T	ENST00000276449.4	-	6	1182	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	246	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCTTGAGGTCGATGCTGAGT	0.557																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(736-738)Gac>Aac		steroidogenic acute regulatory protein							122.0	99.0	107.0					8																	38002748		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38002748C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.736G>A	8.37:g.38002748C>T	ENSP00000276449:p.Asp246Asn						p.D246N	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	6	1182	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	246			START.		Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.736G>A	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417682	0.83449	.	.	ENSG00000147465	ENST00000276449;ENST00000522753	D	0.84370	-1.84	5.86	5.86	0.93980	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	D	0.92218	0.5782	10	0.45353	T	0.12	-45.589	20.1931	0.98233	0.0:1.0:0.0:0.0	.	208;246	E7ETA9;P49675	.;STAR_HUMAN	N	246;208	ENSP00000276449:D246N	ENSP00000276449:D246N	D	-	1	0	STAR	38121905	1.000000	0.71417	0.997000	0.53966	0.473000	0.32948	6.559000	0.73946	2.771000	0.95319	0.563000	0.77884	GAC		0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		58	267	0	0	0	1	0	58	267				
TRIM68	55128	broad.mit.edu	37	11	4626710	4626710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626710C>A	ENST00000300747.5	-	2	314	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	9					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCCACAATGGCTTCCACCAAG	0.512																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(25-27)Gcc>Tcc		tripartite motif containing 68							90.0	76.0	80.0					11																	4626710		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626710C>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.25G>T	11.37:g.4626710C>A	ENSP00000300747:p.Ala9Ser						p.A9S	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	314	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	9					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.25G>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256711	0.39896	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84223	-1.82;-1.82	4.41	3.4	0.38934	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.43416	D	0.000562	T	0.74824	0.3767	N	0.04655	-0.195	0.30812	N	0.738715	D;B	0.69078	0.997;0.192	P;B	0.55785	0.784;0.1	T	0.69873	-0.5027	10	0.16896	T	0.51	.	9.5446	0.39273	0.0:0.7847:0.2153:0.0	.	9;9	E9PR29;Q6AZZ1	.;TRI68_HUMAN	S	9	ENSP00000300747:A9S;ENSP00000436112:A9S	ENSP00000300747:A9S	A	-	1	0	TRIM68	4583286	0.002000	0.14202	0.995000	0.50966	0.957000	0.61999	0.808000	0.27154	2.387000	0.81309	0.549000	0.68633	GCC		0.512	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		61	326	1	0	1.48873e-21	1	1.67879e-21	61	326				
CCP110	9738	broad.mit.edu	37	16	19551989	19551989	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19551989G>T	ENST00000381396.5	+	5	2176	c.1929G>T	c.(1927-1929)gaG>gaT	p.E643D	CCP110_ENST00000396212.2_Missense_Mutation_p.E643D|CCP110_ENST00000396208.2_Missense_Mutation_p.E643D	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	643					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAAGCGAGGAGTTACTAAAAA	0.358																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(1927-1929)gaG>gaT		centriolar coiled coil protein 110kDa							63.0	62.0	63.0					16																	19551989		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19551989G>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1929G>T	16.37:g.19551989G>T	ENSP00000370803:p.Glu643Asp					CCP110_ENST00000396208.2_Missense_Mutation_p.E643D|CCP110_ENST00000381396.5_Missense_Mutation_p.E643D	p.E643D	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			6	2365	+			643					B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.1929G>T	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	9.226	1.034583	0.19590	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.17691	2.26;2.26;2.26	6.04	0.00657	0.14068	.	0.389459	0.28016	N	0.016932	T	0.13884	0.0336	L	0.58101	1.795	0.09310	N	0.999998	B;B	0.14805	0.011;0.011	B;B	0.13407	0.009;0.009	T	0.16928	-1.0386	10	0.45353	T	0.12	-0.0396	4.6877	0.12765	0.305:0.0:0.3805:0.3145	.	643;643	O43303;O43303-2	CP110_HUMAN;.	D	643	ENSP00000379515:E643D;ENSP00000370803:E643D;ENSP00000379511:E643D	ENSP00000370803:E643D	E	+	3	2	CCP110	19459490	0.740000	0.28207	0.388000	0.26195	0.924000	0.55760	0.204000	0.17335	0.125000	0.18397	-0.156000	0.13503	GAG		0.358	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		26	140	1	0	3.73148e-12	1	3.99992e-12	26	140				
SPATA5	166378	broad.mit.edu	37	4	123855775	123855775	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123855775G>T	ENST00000274008.4	+	5	1098	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	343					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATTCAAAAGAGCAAGACAACC	0.328																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1027-1029)gaG>gaT		spermatogenesis associated 5							39.0	40.0	40.0					4																	123855775		2202	4300	6502	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855775G>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1029G>T	4.37:g.123855775G>T	ENSP00000274008:p.Glu343Asp					SPATA5_ENST00000422835.2_3'UTR	p.E343D	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			5	1098	+			343					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.1029G>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	8.890	0.953680	0.18431	.	.	ENSG00000145375	ENST00000274008	D	0.94650	-3.48	4.87	-3.9	0.04181	.	0.467168	0.23496	N	0.047549	D	0.83963	0.5368	L	0.28400	0.85	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71213	-0.4659	10	0.20519	T	0.43	-7.0171	0.6953	0.00898	0.3374:0.277:0.1866:0.1991	.	343;343	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	D	343	ENSP00000274008:E343D	ENSP00000274008:E343D	E	+	3	2	SPATA5	124075225	0.842000	0.29525	0.004000	0.12327	0.944000	0.59088	0.034000	0.13776	-1.054000	0.03214	0.655000	0.94253	GAG		0.328	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		54	207	1	0	4.78724e-31	1	5.62855e-31	54	207				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976198	29976198	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29976198T>C	ENST00000376797.3	-	0	1053				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		ACATGCCATGTGCAGCACAAG	0.592																																						ENST00000376797.3																			0																																																			0							g.chr6:29976198T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976198T>C						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	1053	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.592	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		44	149	0	0	0	1	0	44	149				
USH2A	7399	broad.mit.edu	37	1	216258214	216258214	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216258214T>G	ENST00000307340.3	-	25	5379	c.4993A>C	c.(4993-4995)Atc>Ctc	p.I1665L	USH2A_ENST00000366943.2_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1665	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		I -> T (in dbSNP:rs56222536). {ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTTTTGGATTATCTCTGCA	0.333										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4993-4995)Atc>Ctc		Usher syndrome 2A (autosomal recessive, mild)							62.0	64.0	64.0					1																	216258214		2201	4300	6501	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216258214T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4993A>C	1.37:g.216258214T>G	ENSP00000305941:p.Ile1665Leu	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	p.I1665L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5379	-			1665		I -> T (in dbSNP:rs56222536).	Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4993A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015583	0.35511	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78707	-1.2;-1.2	4.93	-2.28	0.06826	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.479810	0.17138	N	0.185577	T	0.57799	0.2078	N	0.21097	0.63	0.20764	N	0.999851	B	0.06786	0.001	B	0.10450	0.005	T	0.41680	-0.9495	10	0.32370	T	0.25	.	7.1839	0.25789	0.0:0.3409:0.114:0.5451	.	1665	O75445	USH2A_HUMAN	L	1665	ENSP00000305941:I1665L;ENSP00000355910:I1665L	ENSP00000305941:I1665L	I	-	1	0	USH2A	214324837	0.817000	0.29147	0.322000	0.25334	0.952000	0.60782	0.189000	0.17037	-0.335000	0.08451	0.529000	0.55759	ATC		0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		108	292	0	0	0	1	0	108	292				
OR52N5	390075	broad.mit.edu	37	11	5799696	5799696	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799696T>C	ENST00000317093.2	-	1	201	c.169A>G	c.(169-171)Att>Gtt	p.I57V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCATAATAAATGAGGTACACA	0.453																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(169-171)Att>Gtt		olfactory receptor, family 52, subfamily N, member 5							139.0	128.0	132.0					11																	5799696		2124	4089	6213	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799696T>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.169A>G	11.37:g.5799696T>C	ENSP00000322866:p.Ile57Val					TRIM5_ENST00000380027.1_Intron	p.I57V	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	201	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	57					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.169A>G	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	T	9.317	1.057008	0.19907	.	.	ENSG00000181009	ENST00000317093	T	0.06687	3.27	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31167	U	0.008127	T	0.09291	0.0229	L	0.53617	1.68	0.23751	N	0.996947	B	0.25719	0.132	B	0.21360	0.034	T	0.15896	-1.0421	10	0.41790	T	0.15	.	11.1721	0.48577	0.0:0.0:0.0:1.0	.	57	Q8NH56	O52N5_HUMAN	V	57	ENSP00000322866:I57V	ENSP00000322866:I57V	I	-	1	0	OR52N5	5756272	0.023000	0.18921	0.225000	0.23894	0.055000	0.15305	0.214000	0.17541	1.570000	0.49709	0.147000	0.16070	ATT		0.453	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		32	618	0	0	0	1	0	32	618				
GP5	2814	broad.mit.edu	37	3	194117894	194117894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194117894T>C	ENST00000401815.1	-	1	1189	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S	GP5_ENST00000323007.3_Missense_Mutation_p.N373S			P40197	GPV_HUMAN	glycoprotein V (platelet)	373					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGCAGCCTGTTGCGGCGCAG	0.711																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1117-1119)aAc>aGc		glycoprotein V (platelet)							6.0	8.0	7.0					3																	194117894		2082	4117	6199	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117894T>C	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1118A>G	3.37:g.194117894T>C	ENSP00000383931:p.Asn373Ser					GP5_ENST00000323007.3_Missense_Mutation_p.N373S	p.N373S			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1189	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	373					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.1118A>G	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145584	0.37923	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.72615	-0.67;-0.67	4.19	1.64	0.23874	.	0.148584	0.31358	N	0.007783	T	0.76011	0.3928	M	0.92738	3.34	0.20873	N	0.999839	P	0.48834	0.916	P	0.45681	0.49	T	0.69548	-0.5116	10	0.56958	D	0.05	.	7.2592	0.26193	0.0:0.0764:0.2703:0.6533	.	373	P40197	GPV_HUMAN	S	373	ENSP00000383931:N373S;ENSP00000319286:N373S	ENSP00000319286:N373S	N	-	2	0	GP5	195599183	0.997000	0.39634	0.183000	0.23137	0.335000	0.28730	1.930000	0.40124	0.204000	0.20548	-0.478000	0.04885	AAC		0.711	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		12	56	0	0	0	1	0	12	56				
OR8H3	390152	broad.mit.edu	37	11	55890184	55890184	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890184T>C	ENST00000313472.3	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGCTGAATGTTATCTTCTCT	0.458																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(334-336)tgT>tgC		olfactory receptor, family 8, subfamily H, member 3							279.0	267.0	271.0					11																	55890184		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890184T>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.336T>C	11.37:g.55890184T>C							p.C112C	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	336	+	Esophageal squamous(21;0.00693)		112					Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.336T>C	CCDS31519.1																																																																																				0.458	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		279	1326	0	0	0	1	0	279	1326				
HTR1D	3352	broad.mit.edu	37	1	23519707	23519707	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23519707C>A	ENST00000374619.1	-	1	1515	c.1006G>T	c.(1006-1008)Gcg>Tcg	p.A336S	HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	336					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCAAAGAGCGCCGGGTGGATC	0.512																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1006-1008)Gcg>Tcg		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						75.0	82.0	80.0					1																	23519707		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23519707C>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.1006G>T	1.37:g.23519707C>A	ENSP00000363748:p.Ala336Ser					HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	p.A336S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1515	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	336						Missense_Mutation	SNP	ENST00000374619.1	37	c.1006G>T	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100115	0.20552	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.37058	1.22;1.22	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.395173	0.26499	N	0.024039	T	0.26340	0.0643	N	0.25094	0.71	0.32500	N	0.538982	B	0.27166	0.17	B	0.39339	0.297	T	0.34925	-0.9809	10	0.10111	T	0.7	.	7.2503	0.26146	0.0:0.7326:0.174:0.0934	.	336	P28221	5HT1D_HUMAN	S	336	ENSP00000313661:A336S;ENSP00000363748:A336S	ENSP00000313661:A336S	A	-	1	0	HTR1D	23392294	0.973000	0.33851	0.991000	0.47740	0.946000	0.59487	2.543000	0.45752	2.518000	0.84900	0.650000	0.86243	GCG		0.512	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		114	433	1	0	1.67525e-54	1	2.09142e-54	114	433				
AKAP2	11217	broad.mit.edu	37	9	112900703	112900703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900703C>A	ENST00000259318.7	+	2	2393	c.2186C>A	c.(2185-2187)gCt>gAt	p.A729D	AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A960D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	729										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATCCGAGCAGCTCAGGAAAGG	0.542																																						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.(2878-2880)gCt>gAt									83.0	77.0	79.0					9																	112900703		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112900703C>A	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.2186C>A	9.37:g.112900703C>A	ENSP00000259318:p.Ala729Asp					AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A729D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D	p.A960D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	3059	+			729					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2879C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498748	0.85069	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.67865	1.5;1.5;1.5;1.5;1.5;1.5;-0.29;1.5	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.998;0.999;0.999;0.998	T	0.77094	-0.2715	10	0.33141	T	0.24	-27.8397	19.2867	0.94077	0.0:1.0:0.0:0.0	.	729;818;812;818;819;960;960;778	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	960;960;960;960;818;818;778;729	ENSP00000363654:A960D;ENSP00000305861:A960D;ENSP00000451476:A960D;ENSP00000421522:A960D;ENSP00000404782:A818D;ENSP00000363649:A818D;ENSP00000419268:A778D;ENSP00000259318:A729D	ENSP00000259318:A729D	A	+	2	0	PALM2-AKAP2;AKAP2	111940524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.793000	0.96121	0.655000	0.94253	GCT		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		38	274	1	0	1.07637e-12	1	1.15814e-12	38	274				
EPO	2056	broad.mit.edu	37	7	100320732	100320732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100320732G>T	ENST00000252723.2	+	5	739	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	186					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACACAGGGGAGGCCTGCAGGA	0.582																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(556-558)gaG>gaT		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						88.0	89.0	89.0					7																	100320732		2203	4300	6503	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320732G>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.558G>T	7.37:g.100320732G>T	ENSP00000252723:p.Glu186Asp						p.E186D	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			5	739	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		186					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.558G>T	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546256	0.45383	.	.	ENSG00000130427	ENST00000252723	T	0.50548	0.74	5.27	4.37	0.52481	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.330168	0.29376	N	0.012328	T	0.47284	0.1437	L	0.52759	1.655	0.33214	D	0.553841	D;D	0.54601	0.967;0.967	P;P	0.48901	0.594;0.594	T	0.60485	-0.7254	10	0.46703	T	0.11	-12.7599	10.3495	0.43927	0.0957:0.0:0.9043:0.0	.	185;186	B7ZKK5;P01588	.;EPO_HUMAN	D	186	ENSP00000252723:E186D	ENSP00000252723:E186D	E	+	3	2	EPO	100158668	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	1.638000	0.37165	2.616000	0.88540	0.643000	0.83706	GAG		0.582	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		17	662	1	0	1.37522e-17	1	1.51956e-17	17	662				
TSEN54	283989	broad.mit.edu	37	17	73518145	73518145	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73518145C>T	ENST00000333213.6	+	8	1019	c.983C>T	c.(982-984)gCt>gTt	p.A328V		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	328					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCAACGTGGCTGGGCGGGAG	0.672																																						ENST00000333213.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13						c.(982-984)gCt>gTt		TSEN54 tRNA splicing endonuclease subunit							16.0	14.0	15.0					17																	73518145		2190	4286	6476	SO:0001583	missense	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73518145C>T	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.983C>T	17.37:g.73518145C>T	ENSP00000327487:p.Ala328Val						p.A328V	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1019	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		328					Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	c.983C>T	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842806	0.32606	.	.	ENSG00000182173	ENST00000333213	T	0.58210	0.35	5.33	3.34	0.38264	.	0.768822	0.12434	N	0.469320	T	0.43809	0.1264	L	0.50333	1.59	0.09310	N	0.999999	B	0.22480	0.07	B	0.18561	0.022	T	0.29882	-0.9997	10	0.12430	T	0.62	1.1449	10.9413	0.47275	0.0:0.8465:0.0:0.1535	.	328	Q7Z6J9	SEN54_HUMAN	V	328	ENSP00000327487:A328V	ENSP00000327487:A328V	A	+	2	0	TSEN54	71029740	0.000000	0.05858	0.043000	0.18650	0.715000	0.41141	-0.025000	0.12413	0.607000	0.29982	0.561000	0.74099	GCT		0.672	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		5	36	0	0	0	1	0	5	36				
MCM3	4172	broad.mit.edu	37	6	52141118	52141118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52141118C>T	ENST00000229854.7	-	9	1398	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000596288.1_Missense_Mutation_p.R486Q			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	441	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGCATTCAGCCGAGCATGGAT	0.517																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1456-1458)cGg>cAg		minichromosome maintenance complex component 3							76.0	57.0	64.0					6																	52141118		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141118C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1322G>A	6.37:g.52141118C>T	ENSP00000229854:p.Arg441Gln					MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q|MCM3_ENST00000229854.7_Missense_Mutation_p.R441Q	p.R486Q	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			9	1484	-	Lung NSC(77;0.0931)		441			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1457G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.025812	0.75390	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06218	3.33;3.33	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.02688	0.0081	L	0.28740	0.885	0.80722	D	1	B;B	0.31655	0.334;0.211	B;B	0.28011	0.085;0.059	T	0.40117	-0.9580	10	0.66056	D	0.02	-13.7045	13.109	0.59263	0.0:0.9233:0.0:0.0767	.	395;441	B4DUQ9;P25205	.;MCM3_HUMAN	Q	441;395	ENSP00000229854:R441Q;ENSP00000388647:R395Q	ENSP00000229854:R441Q	R	-	2	0	MCM3	52249077	1.000000	0.71417	0.819000	0.32651	0.954000	0.61252	5.896000	0.69822	2.669000	0.90835	0.655000	0.94253	CGG		0.517	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			9	125	0	0	0	1	0	9	125				
PMS2	5395	broad.mit.edu	37	7	6045573	6045573	+	Missense_Mutation	SNP	G	G	A	rs148270248		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6045573G>A	ENST00000265849.7	-	2	218	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PMS2_ENST00000441476.2_5'Flank|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.A38V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	38					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCCTTTACCGCAGTGCTTAG	0.433			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(112-114)gCg>gTg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		G	VAL/ALA	1,2741		0,1,1370	298.0	362.0	338.0		113	5.7	0.9	7	dbSNP_134	338	0,4664		0,0,2332	no	missense	PMS2	NM_000535.5	64	0,1,3702	AA,AG,GG		0.0,0.0365,0.0135	probably-damaging	38/863	6045573	1,7405	1371	2332	3703	SO:0001583	missense	5395	Turcot 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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6045573G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.113C>T	7.37:g.6045573G>A	ENSP00000265849:p.Ala38Val					PMS2_ENST00000406569.3_Missense_Mutation_p.A38V|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V|PMS2_ENST00000469652.1_Intron	p.A38V	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	2	218	-		Ovarian(82;0.0694)	38					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.113C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440113	0.96168	3.65E-4	0.0	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.97378	-4.36;-4.36;-4.36	5.67	5.67	0.87782	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	L	0.31207	0.915	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.71656	0.974;0.55;0.966	D	0.95682	0.8733	10	0.22109	T	0.4	.	19.7586	0.96304	0.0:0.0:1.0:0.0	.	38;38;38	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	38	ENSP00000265849:A38V;ENSP00000371758:A38V;ENSP00000384308:A38V	ENSP00000265849:A38V	A	-	2	0	PMS2	6012099	1.000000	0.71417	0.935000	0.37517	0.942000	0.58702	9.367000	0.97148	2.663000	0.90544	0.585000	0.79938	GCG		0.433	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		307	1257	0	0	0	1	0	307	1257				
PCNXL4	64430	broad.mit.edu	37	14	60581598	60581598	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60581598G>A	ENST00000406854.1	+	3	1423		c.e3+1		PCNXL4_ENST00000317623.4_Splice_Site|PCNXL4_ENST00000404681.2_Splice_Site|PCNXL4_ENST00000406949.1_Splice_Site			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)							integral component of membrane (GO:0016021)											CCCACTTACGGTATTTATTTT	0.348																																						ENST00000406854.1																			0											c.e3+1		pecanex-like 4 (Drosophila)							94.0	90.0	91.0					14																	60581598		1796	4063	5859	SO:0001630	splice_region_variant	64430							g.chr14:60581598G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.869+1G>A	14.37:g.60581598G>A						PCNXL4_ENST00000404681.2_Splice_Site|PCNXL4_ENST00000317623.4_Splice_Site|PCNXL4_ENST00000406949.1_Splice_Site								3	1423	+								A8MXM2|Q9BQG8|Q9H9F2	Splice_Site	SNP	ENST00000406854.1	37			.	.	.	.	.	.	.	.	.	.	G	14.26	2.481435	0.44147	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf135	59651351	1.000000	0.71417	0.993000	0.49108	0.484000	0.33280	9.316000	0.96319	2.512000	0.84698	0.462000	0.41574	.		0.348	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495	Intron	111	502	0	0	0	1	0	111	502				
MLLT10	8028	broad.mit.edu	37	10	22022979	22022979	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22022979T>C	ENST00000307729.7	+	20	2957	c.2779T>C	c.(2779-2781)Tcc>Ccc	p.S927P	MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S943P|MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	927					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCACAATGTCCCAGAACCC	0.458			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2827-2829)Tcc>Ccc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							119.0	99.0	106.0					10																	22022979		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022979T>C	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2779T>C	10.37:g.22022979T>C	ENSP00000307411:p.Ser927Pro					MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P|MLLT10_ENST00000307729.7_Missense_Mutation_p.S927P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P	p.S943P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			21	3175	+			943					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2827T>C	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550030	0.27652	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.16897	2.31;2.32;2.32;2.32	4.94	2.55	0.30701	.	0.530450	0.21640	N	0.071348	T	0.06735	0.0172	N	0.05124	-0.11	0.80722	D	1	B;B;B;B	0.14012	0.009;0.005;0.0;0.005	B;B;B;B	0.11329	0.006;0.003;0.0;0.003	T	0.26189	-1.0110	10	0.30078	T	0.28	.	4.0468	0.09776	0.1548:0.1592:0.0:0.6859	.	622;927;927;943	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	943;927;927;762;927	ENSP00000366272:S943P;ENSP00000401406:S927P;ENSP00000307411:S927P;ENSP00000366258:S927P	ENSP00000307411:S927P	S	+	1	0	MLLT10	22062985	0.997000	0.39634	0.938000	0.37757	0.950000	0.60333	0.429000	0.21412	0.685000	0.31468	0.455000	0.32223	TCC		0.458	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			61	261	0	0	0	1	0	61	261				
SPTAN1	6709	broad.mit.edu	37	9	131329137	131329137	+	Silent	SNP	C	C	T	rs374578900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131329137C>T	ENST00000372731.4	+	2	228	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	SPTAN1_ENST00000372739.3_Silent_p.L40L|SPTAN1_ENST00000358161.5_Silent_p.L40L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	40					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGTCAGAAGCTGGAAGATTC	0.468																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(118-120)Ctg>Ttg		spectrin, alpha, non-erythrocytic 1		C	,,	0,4406		0,0,2203	99.0	99.0	99.0		118,118,118	1.6	1.0	9		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	40/2478,40/2453,40/2473	131329137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131329137C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.118C>T	9.37:g.131329137C>T						SPTAN1_ENST00000372731.4_Silent_p.L40L|SPTAN1_ENST00000372739.3_Silent_p.L40L	p.L40L			Q13813	SPTA2_HUMAN			2	231	+			40					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.118C>T	CCDS6905.1																																																																																				0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		10	501	0	0	0	1	0	10	501				
FAT4	79633	broad.mit.edu	37	4	126239656	126239656	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239656A>G	ENST00000394329.3	+	1	2103	c.2090A>G	c.(2089-2091)cAc>cGc	p.H697R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	697	Cadherin 7. {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						TACTTTGCTCACATTAAGGAG	0.478																																						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.(2089-2091)cAc>cGc		FAT atypical cadherin 4							90.0	92.0	92.0					4																	126239656		1986	4178	6164	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239656A>G	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.2090A>G	4.37:g.126239656A>G	ENSP00000377862:p.His697Arg						p.H697R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2103	+			697			Cadherin 7.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2090A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	8.298	0.819281	0.16607	.	.	ENSG00000196159	ENST00000394329	T	0.01685	4.69	5.28	2.88	0.33553	Cadherin (3);Cadherin-like (1);	0.000000	0.35436	U	0.003202	T	0.01387	0.0045	N	0.14661	0.345	0.80722	D	1	B	0.23490	0.086	B	0.29077	0.098	T	0.60762	-0.7199	10	0.21540	T	0.41	.	9.1287	0.36833	0.8521:0.0:0.1479:0.0	.	697	Q6V0I7	FAT4_HUMAN	R	697	ENSP00000377862:H697R	ENSP00000377862:H697R	H	+	2	0	FAT4	126459106	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	4.443000	0.59994	0.844000	0.35094	0.533000	0.62120	CAC		0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		85	348	0	0	0	1	0	85	348				
COG3	83548	broad.mit.edu	37	13	46067616	46067616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46067616A>C	ENST00000349995.5	+	12	1434	c.1322A>C	c.(1321-1323)aAc>aCc	p.N441T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	441					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CATGTGCAGAACAATGGTAAA	0.353																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1321-1323)aAc>aCc		component of oligomeric golgi complex 3							127.0	118.0	121.0					13																	46067616		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46067616A>C	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1322A>C	13.37:g.46067616A>C	ENSP00000258654:p.Asn441Thr					COG3_ENST00000465942.1_3'UTR	p.N441T	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	12	1434	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	441					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1322A>C	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548562	0.65311	.	.	ENSG00000136152	ENST00000349995	T	0.46063	0.88	5.63	5.63	0.86233	.	0.045932	0.85682	D	0.000000	T	0.42063	0.1186	L	0.37561	1.115	0.58432	D	0.999997	B;D;D	0.57257	0.138;0.979;0.974	B;P;P	0.51777	0.039;0.679;0.647	T	0.16012	-1.0417	10	0.10636	T	0.68	-9.047	15.0147	0.71576	1.0:0.0:0.0:0.0	.	278;441;441	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	T	441	ENSP00000258654:N441T	ENSP00000258654:N441T	N	+	2	0	COG3	44965617	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.331000	0.96430	2.138000	0.66242	0.377000	0.23210	AAC		0.353	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			72	305	0	0	0	1	0	72	305				
TEX13B	56156	broad.mit.edu	37	X	107224738	107224738	+	Missense_Mutation	SNP	C	C	T	rs199689215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107224738C>T	ENST00000302917.1	-	3	603	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	171										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCGGCAGTGGCCAGGCCTGGA	0.617																																						ENST00000302917.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(511-513)Gcc>Acc		testis expressed 13B							61.0	72.0	68.0					X																	107224738		2195	4276	6471	SO:0001583	missense	0							g.chrX:107224738C>T	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.511G>A	X.37:g.107224738C>T	ENSP00000303777:p.Ala171Thr						p.A171T	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			3	603	-			171					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.511G>A	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883802	0.33255	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.37	2.5	0.30297	.	.	.	.	.	T	0.26774	0.0655	L	0.35854	1.095	0.09310	N	1	P	0.40970	0.734	B	0.39531	0.302	T	0.11665	-1.0578	8	0.52906	T	0.07	.	5.677	0.17753	0.0:0.8465:0.0:0.1535	.	171	Q9BXU2	TX13B_HUMAN	T	171	.	ENSP00000303777:A171T	A	-	1	0	TEX13B	107111394	0.028000	0.19301	0.003000	0.11579	0.024000	0.10985	1.307000	0.33516	0.792000	0.33850	0.415000	0.27848	GCC		0.617	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			135	869	0	0	0	1	0	135	869				
PRND	23627	broad.mit.edu	37	20	4705663	4705663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4705663C>T	ENST00000305817.2	+	2	537	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	156					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGCAGGACTTCGGGTCACCAT	0.597																																						ENST00000305817.2																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(466-468)Cgg>Tgg		prion protein 2 (dublet)							35.0	34.0	34.0					20																	4705663		2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705663C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.466C>T	20.37:g.4705663C>T	ENSP00000306900:p.Arg156Trp						p.R156W	NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN			2	537	+			156					A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.466C>T	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643659	0.29246	.	.	ENSG00000171864	ENST00000305817	D	0.89552	-2.53	4.7	1.64	0.23874	Prion/Doppel protein, beta-ribbon domain (1);	0.620637	0.13289	N	0.399160	D	0.82435	0.5036	L	0.49126	1.545	0.09310	N	1	B	0.26975	0.165	B	0.19946	0.027	T	0.71679	-0.4520	10	0.56958	D	0.05	-19.0496	4.3118	0.10974	0.1797:0.6246:0.0:0.1957	.	156	Q9UKY0	PRND_HUMAN	W	156	ENSP00000306900:R156W	ENSP00000306900:R156W	R	+	1	2	PRND	4653663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.451000	0.21779	0.141000	0.18875	0.557000	0.71058	CGG		0.597	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		18	253	0	0	0	1	0	18	253				
DAPK1	1612	broad.mit.edu	37	9	90258300	90258300	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90258300C>T	ENST00000408954.3	+	11	1263	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000469640.2_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	310	Calmodulin-binding.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCAATCCGTTCGCTTGATATC	0.428									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(928-930)Cgc>Tgc		death-associated protein kinase 1							65.0	59.0	61.0					9																	90258300		1854	4096	5950	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90258300C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.928C>T	9.37:g.90258300C>T	ENSP00000386135:p.Arg310Cys					DAPK1_ENST00000408954.3_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C|DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C	p.R310C			P53355	DAPK1_HUMAN			11	1303	+			310			Calmodulin-binding.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.928C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173017	0.94807	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68331	-0.32;-0.32;-0.31;-0.32;-0.29	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000072	T	0.76040	0.3932	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.64595	0.927;0.879;0.595	T	0.77747	-0.2472	10	0.87932	D	0	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	310;310;310	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	310	ENSP00000350785:R310C;ENSP00000417076:R310C;ENSP00000418885:R310C;ENSP00000386135:R310C;ENSP00000419026:R310C	ENSP00000350785:R310C	R	+	1	0	DAPK1	89448120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.681000	0.84073	2.716000	0.92895	0.655000	0.94253	CGC		0.428	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		20	116	0	0	0	1	0	20	116				
VARS	7407	broad.mit.edu	37	6	31749480	31749480	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749480G>T	ENST00000375663.3	-	20	2846	c.2406C>A	c.(2404-2406)ggC>ggA	p.G802G	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	802					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTTGGGCCAGCCCAAAATGG	0.607																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2404-2406)ggC>ggA		valyl-tRNA synthetase	L-Valine(DB00161)						42.0	45.0	44.0					6																	31749480		1509	2708	4217	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749480G>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2406C>A	6.37:g.31749480G>T						VARS_ENST00000482996.1_5'UTR	p.G802G	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			20	2846	-			802					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.2406C>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569406	0.13560	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.64	3.61	0.41365	.	.	.	.	.	T	0.58264	0.2110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59716	-0.7402	4	.	.	.	-24.8287	13.7946	0.63164	0.0:0.0:0.712:0.288	.	.	.	.	M	120	.	.	L	-	1	2	VARS	31857459	0.970000	0.33590	1.000000	0.80357	0.791000	0.44710	-0.035000	0.12205	1.333000	0.45449	0.655000	0.94253	CTG		0.607	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		46	255	1	0	8.94452e-30	1	1.0468e-29	46	255				
BRF1	2972	broad.mit.edu	37	14	105739099	105739099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105739099G>A	ENST00000546474.1	-	3	15357	c.398C>T	c.(397-399)gCt>gTt	p.A133V	BRF1_ENST00000379937.2_Missense_Mutation_p.A106V|BRF1_ENST00000548421.1_Missense_Mutation_p.A133V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V|BRF1_ENST00000440513.3_Missense_Mutation_p.A18V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	133					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GAGGCAGGCAGCAATCACGTG	0.622																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(397-399)gCt>gTt		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							64.0	58.0	60.0					14																	105739099		2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105739099G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.398C>T	14.37:g.105739099G>A	ENSP00000448323:p.Ala133Val					BRF1_ENST00000440513.3_Missense_Mutation_p.A18V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V|BRF1_ENST00000379937.2_Missense_Mutation_p.A106V|BRF1_ENST00000548421.1_Missense_Mutation_p.A133V	p.A133V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	3	15357	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	133					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.398C>T	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579328	0.86645	.	.	ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513;ENST00000550692;ENST00000548421;ENST00000345053	.	.	.	5.03	5.03	0.67393	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	M	0.93150	3.385	0.80722	D	1	D;D;D;D	0.89917	0.997;0.995;1.0;0.999	D;D;D;D	0.77557	0.963;0.97;0.99;0.99	D	0.89856	0.4013	9	0.87932	D	0	.	15.8531	0.78952	0.0:0.0:1.0:0.0	.	18;106;133;133	F5H5Z7;Q92994-5;Q96KX3;Q92994	.;.;.;TF3B_HUMAN	V	106;133;18;18;18;133;133	.	ENSP00000329029:A18V	A	-	2	0	BRF1	104810144	1.000000	0.71417	0.590000	0.28732	0.485000	0.33311	9.158000	0.94723	2.333000	0.79357	0.650000	0.86243	GCT		0.622	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		9	448	0	0	0	1	0	9	448				
CDYL	9425	broad.mit.edu	37	6	4892303	4892303	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4892303C>A	ENST00000328908.5	+	4	674	c.543C>A	c.(541-543)ctC>ctA	p.L181L	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Silent_p.L127L|CDYL_ENST00000343762.5_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	181	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCCATCTCTCTCCAGCCGGA	0.537																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(541-543)ctC>ctA		chromodomain protein, Y-like							86.0	88.0	87.0					6																	4892303		2203	4300	6503	SO:0001819	synonymous_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892303C>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.543C>A	6.37:g.4892303C>A						CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Silent_p.L127L|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR	p.L181L			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	674	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	181					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37	c.543C>A																																																																																					0.537	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		100	357	1	0	5.87852e-30	1	6.88333e-30	100	357				
RBM15	64783	broad.mit.edu	37	1	110882330	110882330	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882330C>T	ENST00000369784.3	+	1	1203	c.303C>T	c.(301-303)gaC>gaT	p.D101D	RBM15_ENST00000487146.2_Silent_p.D101D|RBM15_ENST00000602849.1_Silent_p.D101D|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	101	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCACCTGGACAAGTCCAGCA	0.607			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(301-303)gaC>gaT		RNA binding motif protein 15							19.0	21.0	20.0					1																	110882330		2200	4291	6491	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882330C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.303C>T	1.37:g.110882330C>T			OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_ENST00000602849.1_Silent_p.D101D|RBM15_ENST00000487146.2_Silent_p.D101D	p.D101D	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1203	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	101			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.303C>T	CCDS822.1																																																																																				0.607	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		10	178	0	0	0	1	0	10	178				
INCENP	3619	broad.mit.edu	37	11	61917621	61917621	+	Silent	SNP	C	C	T	rs564081482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61917621C>T	ENST00000394818.3	+	18	2686	c.2484C>T	c.(2482-2484)agC>agT	p.S828S	INCENP_ENST00000278849.4_Silent_p.S824S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	828					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGAATAGCGACGACTCCA	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.002					ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2482-2484)agC>agT		inner centromere protein antigens 135/155kDa							96.0	84.0	88.0					11																	61917621		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61917621C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2484C>T	11.37:g.61917621C>T						INCENP_ENST00000278849.4_Silent_p.S824S	p.S828S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			18	2686	+			828					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.2484C>T	CCDS44624.1																																																																																				0.592	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		81	362	0	0	0	1	0	81	362				
IDH2	3418	broad.mit.edu	37	15	90631955	90631955	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631955T>C	ENST00000330062.3	-	4	511	c.398A>G	c.(397-399)aAa>aGa	p.K133R	IDH2_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.K3R	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	133					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATTGGGACTTTTCCACATCTT	0.517			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(397-399)aAa>aGa		isocitrate dehydrogenase 2 (NADP+), mitochondrial							91.0	92.0	91.0					15																	90631955		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631955T>C		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.398A>G	15.37:g.90631955T>C	ENSP00000331897:p.Lys133Arg					IDH2_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000539790.1_Missense_Mutation_p.K3R|IDH2_ENST00000559482.1_Intron	p.K133R	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	511	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		133					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.398A>G	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639058	0.29157	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.73258	-0.73;-0.73;-0.73	5.67	4.53	0.55603	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	N	0.25144	0.715	0.42806	D	0.993945	B	0.09022	0.002	B	0.11329	0.006	T	0.45352	-0.9267	10	0.21540	T	0.41	.	11.1028	0.48186	0.0:0.0:0.1553:0.8447	.	133	P48735	IDHP_HUMAN	R	133;3;81	ENSP00000331897:K133R;ENSP00000438457:K3R;ENSP00000446147:K81R	ENSP00000331897:K133R	K	-	2	0	IDH2	88432959	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	6.238000	0.72350	0.952000	0.37798	0.459000	0.35465	AAA		0.517	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			57	341	0	0	0	1	0	57	341				
HTATIP2	10553	broad.mit.edu	37	11	20404603	20404603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20404603C>T	ENST00000451739.2	+	5	1022	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTACCAGACTCTTGGGCCAGT	0.448																																						ENST00000451739.2																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(580-582)tCt>tTt		HIV-1 Tat interactive protein 2, 30kDa							83.0	66.0	72.0					11																	20404603		2203	4300	6503	SO:0001583	missense	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20404603C>T	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.581C>T	11.37:g.20404603C>T	ENSP00000394259:p.Ser194Phe					HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F	p.S194F	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN			5	1022	+			194						Missense_Mutation	SNP	ENST00000451739.2	37	c.581C>T	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488523	0.44249	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.57	6.07	5.16	0.70880	NAD(P)-binding domain (1);	0.376385	0.29684	N	0.011467	T	0.13200	0.0320	N	0.05574	-0.02	0.38429	D	0.946382	B;B	0.13594	0.001;0.008	B;B	0.04013	0.001;0.001	T	0.20538	-1.0272	10	0.09843	T	0.71	-6.2661	8.3212	0.32130	0.0:0.8386:0.0:0.1614	.	194;228	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	F	194;194;228;194;148	ENSP00000397752:S194F;ENSP00000387876:S194F;ENSP00000392985:S228F;ENSP00000394259:S194F;ENSP00000436729:S148F	ENSP00000392985:S228F	S	+	2	0	HTATIP2	20361179	0.039000	0.19947	0.982000	0.44146	0.195000	0.23768	1.960000	0.40422	2.885000	0.99019	0.655000	0.94253	TCT		0.448	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		28	124	0	0	0	1	0	28	124				
RAB38	23682	broad.mit.edu	37	11	87908434	87908434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87908434G>A	ENST00000243662.6	-	1	201	c.119C>T	c.(118-120)gCc>gTc	p.A40V	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	40					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCGATTGTGGCCCGGTAGTG	0.622																																						ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(118-120)gCc>gTc		RAB38, member RAS oncogene family							104.0	74.0	84.0					11																	87908434		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87908434G>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.119C>T	11.37:g.87908434G>A	ENSP00000243662:p.Ala40Val						p.A40V	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			1	201	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	40					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.119C>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.023787|6.023787	0.97211|0.97211	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.80653|.	-1.4|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68091|0.68091	0.2963|0.2963	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.71414|.	0.973|.	T|T	0.63466|0.63466	-0.6631|-0.6631	9|5	.|.	.|.	.|.	-3.4587|-3.4587	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	40|.	P57729|.	RAB38_HUMAN|.	V|S	40|57	ENSP00000243662:A40V|.	.|.	A|P	-|-	2|1	0|0	RAB38|RAB38	87548082|87548082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.538000|9.538000	0.98072|0.98072	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.622	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			31	182	0	0	0	1	0	31	182				
PLEKHM1P	440456	broad.mit.edu	37	17	62796142	62796142	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62796142C>T	ENST00000582986.1	-	0	1778					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CCTTGGGAGTCAAGGCCTTTC	0.607																																						ENST00000582986.1																			0																																																			0							g.chr17:62796142C>T			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796142C>T								NR_024386.1						0	1778	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.607	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		30	77	0	0	0	1	0	30	77				
CAND2	23066	broad.mit.edu	37	3	12875277	12875277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12875277G>T	ENST00000456430.2	+	15	3548	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	RP11-767C1.2_ENST00000606447.1_RNA|CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1169					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGTGAAGCAGGAGTTTGAAA	0.547																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(3505-3507)caG>caT		cullin-associated and neddylation-dissociated 2 (putative)							93.0	94.0	93.0					3																	12875277		2020	4208	6228	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12875277G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3507G>T	3.37:g.12875277G>T	ENSP00000387641:p.Gln1169His					CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H	p.Q1169H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			15	3548	+			1169					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.3507G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317076	0.60524	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.99	3.05	0.35203	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.984	D	0.85285	0.1064	10	0.87932	D	0	-32.9031	5.4587	0.16604	0.3121:0.0:0.6879:0.0	.	1169;1052	O75155;O75155-2	CAND2_HUMAN;.	H	1052;1169	ENSP00000295989:Q1052H;ENSP00000387641:Q1169H	ENSP00000295989:Q1052H	Q	+	3	2	CAND2	12850277	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.214000	0.42853	1.328000	0.45358	0.591000	0.81541	CAG		0.547	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		97	406	1	0	6.84326e-50	1	8.47065e-50	97	406				
RMDN2	151393	broad.mit.edu	37	2	38179198	38179198	+	Intron	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38179198A>C	ENST00000406384.1	+	3	646				RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.K280N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Missense_Mutation_p.K280N|RMDN2_ENST00000402091.3_Missense_Mutation_p.K280N	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCCTCCATAAAGCTGGATTTT	0.408																																						ENST00000407257.1																			0											c.(838-840)aaA>aaC		regulator of microtubule dynamics 2							91.0	94.0	93.0					2																	38179198		2203	4299	6502	SO:0001627	intron_variant	151393							g.chr2:38179198A>C	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.453-21985A>C	2.37:g.38179198A>C						RMDN2_ENST00000402091.3_Missense_Mutation_p.K280N|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.K280N|RMDN2_ENST00000354545.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA	p.K280N							2	987	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.840A>C	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	A	4.017	0.000662	0.07819	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.44083	0.93;0.93	3.91	-6.92	0.01644	.	.	.	.	.	T	0.19046	0.0457	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26326	-1.0106	9	0.87932	D	0	-0.3811	4.447	0.11602	0.5497:0.1792:0.0:0.2711	.	280	Q96LZ7-2	.	N	280	ENSP00000385049:K280N;ENSP00000234195:K280N	ENSP00000234195:K280N	K	+	3	2	FAM82A1	38032702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.328000	0.02680	-1.468000	0.01892	-0.624000	0.04008	AAA		0.408	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		123	576	0	0	0	1	0	123	576				
LRRC25	126364	broad.mit.edu	37	19	18507290	18507290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507290C>T	ENST00000339007.3	-	1	1137	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	162						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTGCAGAGGCCAGGCCAGGG	0.637																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(484-486)Gcc>Acc		leucine rich repeat containing 25							28.0	27.0	27.0					19																	18507290		2202	4298	6500	SO:0001583	missense	126364					integral to membrane		g.chr19:18507290C>T	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.484G>A	19.37:g.18507290C>T	ENSP00000340983:p.Ala162Thr					LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	p.A162T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	1137	-			162					Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	c.484G>A	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016135	0.19355	.	.	ENSG00000175489	ENST00000339007	T	0.33216	1.42	3.76	-7.52	0.01341	.	2.386640	0.02216	N	0.063617	T	0.20007	0.0481	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.10268	-1.0637	10	0.36615	T	0.2	-0.4435	1.8738	0.03214	0.4333:0.3128:0.0959:0.158	.	162	Q8N386	LRC25_HUMAN	T	162	ENSP00000340983:A162T	ENSP00000340983:A162T	A	-	1	0	LRRC25	18368290	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.526000	0.00441	-3.308000	0.00191	-0.500000	0.04577	GCC		0.637	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		55	195	0	0	0	1	0	55	195				
TPH2	121278	broad.mit.edu	37	12	72425041	72425041	+	Missense_Mutation	SNP	G	G	A	rs533065952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72425041G>A	ENST00000333850.3	+	10	1309	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	390					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTTGCAGCACGCCCTTTCTGA	0.423																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1168-1170)Gcc>Acc		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						104.0	111.0	108.0					12																	72425041		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425041G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1168G>A	12.37:g.72425041G>A	ENSP00000329093:p.Ala390Thr						p.A390T	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			10	1309	+			390					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1168G>A	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953843	0.92660	.	.	ENSG00000139287	ENST00000333850	D	0.99758	-6.65	5.56	5.56	0.83823	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.93106	3.38	0.80722	D	1	D	0.53151	0.958	P	0.48627	0.584	D	0.98415	1.0574	10	0.72032	D	0.01	-17.6951	19.8892	0.96923	0.0:0.0:1.0:0.0	.	390	Q8IWU9	TPH2_HUMAN	T	390	ENSP00000329093:A390T	ENSP00000329093:A390T	A	+	1	0	TPH2	70711308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.929000	0.87595	2.777000	0.95525	0.591000	0.81541	GCC		0.423	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		80	395	0	0	0	1	0	80	395				
AFF2	2334	broad.mit.edu	37	X	148069061	148069061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148069061C>T	ENST00000370460.2	+	20	4267	c.3788C>T	c.(3787-3789)gCc>gTc	p.A1263V	AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V|AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1263					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATATGGCCGACAAACTG	0.478																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3787-3789)gCc>gTc		AF4/FMR2 family, member 2							195.0	151.0	166.0					X																	148069061		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148069061C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3788C>T	X.37:g.148069061C>T	ENSP00000359489:p.Ala1263Val					AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V|AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V	p.A1263V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			20	4267	+	Acute lymphoblastic leukemia(192;6.56e-05)		1263					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3788C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511101	0.96386	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89812	0.6823	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.995;0.998;0.998;0.998;0.999	D	0.91090	0.4906	10	0.87932	D	0	.	18.9513	0.92642	0.0:1.0:0.0:0.0	.	904;1228;1228;1224;1253;1263	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1263;1228;1230;904	ENSP00000359489:A1263V;ENSP00000359486:A1228V;ENSP00000345459:A1230V;ENSP00000286437:A904V	ENSP00000286437:A904V	A	+	2	0	AFF2	147876767	1.000000	0.71417	0.955000	0.39395	0.912000	0.54170	7.786000	0.85741	2.423000	0.82170	0.600000	0.82982	GCC		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		81	377	0	0	0	1	0	81	377				
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Intron	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54754889T>C	ENST00000316219.5	-	13	1734				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Silent_p.R582R|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1744-1746)agA>agG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754889T>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-93A>G	19.37:g.54754889T>C						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	p.R582R			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1823	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		388					Q8N760	Silent	SNP	ENST00000316219.5	37	c.1746A>G	CCDS12885.1																																																																																				0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			15	170	0	0	0	1	0	15	170				
CCM2	83605	broad.mit.edu	37	7	45109511	45109511	+	Silent	SNP	G	G	A	rs368152116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45109511G>A	ENST00000258781.6	+	6	845	c.696G>A	c.(694-696)gcG>gcA	p.A232A	CCM2_ENST00000474617.1_Intron|CCM2_ENST00000475551.1_Silent_p.A226A|CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Silent_p.A253A	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	232	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGGACAGAGCGATATTTGATG	0.607																																						ENST00000381112.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(757-759)gcG>gcA		cerebral cavernous malformation 2		G	,,,	0,4406		0,0,2203	129.0	120.0	123.0		759,522,,696	-6.1	0.9	7		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	CCM2	NM_001029835.2,NM_001167934.1,NM_001167935.1,NM_031443.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	253/466,174/387,,232/445	45109511	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45109511G>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.696G>A	7.37:g.45109511G>A						CCM2_ENST00000474617.1_Intron|CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000475551.1_Silent_p.A226A|CCM2_ENST00000258781.6_Silent_p.A232A|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Intron	p.A253A	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN			6	1438	+			232					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	37	c.759G>A	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611161	0.28712	0.0	1.16E-4	ENSG00000136280	ENST00000480382	.	.	.	5.32	-6.13	0.02118	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43718	-0.9374	4	.	.	.	-30.244	3.9718	0.09457	0.5419:0.2266:0.1462:0.0853	.	.	.	.	Q	58	.	.	R	+	2	0	CCM2	45076036	0.012000	0.17670	0.898000	0.35279	0.996000	0.88848	-0.853000	0.04303	-0.789000	0.04498	-0.136000	0.14681	CGA		0.607	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		65	379	0	0	0	1	0	65	379				
HSF2	3298	broad.mit.edu	37	6	122753094	122753094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:122753094C>T	ENST00000368455.4	+	13	1532	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	HSF2_ENST00000452194.1_Missense_Mutation_p.A429V	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	447					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAGTATACCGCCTTTCCACTT	0.413																																						ENST00000452194.1																			0				large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1285-1287)gCc>gTc		heat shock transcription factor 2							117.0	120.0	119.0					6																	122753094		2203	4300	6503	SO:0001583	missense	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122753094C>T	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1340C>T	6.37:g.122753094C>T	ENSP00000357440:p.Ala447Val					HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.A447V	p.A429V	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	12	1473	+			447					B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	c.1286C>T	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848981	0.71603	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.46	5.46	0.80206	Vertebrate heat shock transcription factor (1);	0.246309	0.43919	D	0.000511	T	0.50051	0.1593	M	0.64404	1.975	0.45791	D	0.998672	B;P	0.46578	0.314;0.88	B;B	0.40636	0.044;0.335	T	0.61247	-0.7101	9	0.87932	D	0	-10.8781	19.2991	0.94136	0.0:1.0:0.0:0.0	.	429;447	Q03933-2;Q03933	.;HSF2_HUMAN	V	447;429	.	ENSP00000357440:A447V	A	+	2	0	HSF2	122794793	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	5.120000	0.64685	2.573000	0.86826	0.555000	0.69702	GCC		0.413	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		94	615	0	0	0	1	0	94	615				
ETHE1	23474	broad.mit.edu	37	19	44015646	44015646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44015646C>T	ENST00000292147.2	-	4	514	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	ETHE1_ENST00000600651.1_Missense_Mutation_p.A150T	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	150					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CCAGTGAAGGCCATGCTGTGG	0.572																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(448-450)Gcc>Acc		ethylmalonic encephalopathy 1							103.0	76.0	85.0					19																	44015646		2203	4300	6503	SO:0001583	missense	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44015646C>T		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.448G>A	19.37:g.44015646C>T	ENSP00000292147:p.Ala150Thr					ETHE1_ENST00000292147.2_Missense_Mutation_p.A150T	p.A150T			O95571	ETHE1_HUMAN			4	471	-		Prostate(69;0.0153)	150					Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	37	c.448G>A	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400492	0.96030	.	.	ENSG00000105755	ENST00000292147	T	0.80824	-1.42	5.04	5.04	0.67666	Beta-lactamase-like (2);	0.056346	0.64402	D	0.000002	D	0.92476	0.7611	H	0.95470	3.675	0.58432	D	0.999999	D;D	0.76494	0.992;0.999	P;D	0.72075	0.823;0.976	D	0.93924	0.7208	10	0.62326	D	0.03	-1.0203	16.3468	0.83138	0.0:1.0:0.0:0.0	.	123;150	B2RCZ7;O95571	.;ETHE1_HUMAN	T	150	ENSP00000292147:A150T	ENSP00000292147:A150T	A	-	1	0	ETHE1	48707486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.703000	0.74633	2.808000	0.96608	0.549000	0.68633	GCC		0.572	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		34	219	0	0	0	1	0	34	219				
CELF4	56853	broad.mit.edu	37	18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34853000C>T	ENST00000591282.1	-	7	927	c.928G>A	c.(928-930)Gca>Aca	p.A310T	CELF4_ENST00000412753.1_Missense_Mutation_p.A309T|CELF4_ENST00000420428.2_Missense_Mutation_p.A310T|CELF4_ENST00000591287.1_Missense_Mutation_p.A309T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000601019.1_Missense_Mutation_p.A308T|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	310	Ala-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GTCATAGGTGCGGCCGCCAGG	0.657																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(928-930)Gca>Aca		CUGBP, Elav-like family member 4							26.0	30.0	29.0					18																	34853000		2203	4298	6501	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34853000C>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.928G>A	18.37:g.34853000C>T	ENSP00000464794:p.Ala310Thr					CELF4_ENST00000412753.1_Missense_Mutation_p.A309T|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T|CELF4_ENST00000591287.1_Missense_Mutation_p.A309T|CELF4_ENST00000591282.1_Missense_Mutation_p.A310T|CELF4_ENST00000601019.1_Missense_Mutation_p.A308T	p.A310T	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			7	1323	-			310			Ala-rich.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.928G>A	CCDS32818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.55|10.55	1.382003|1.382003	0.24944|0.24944	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919|ENST00000361683	T;T;T|.	0.75477|.	-0.86;-0.88;-0.94|.	5.22|5.22	4.34|4.34	0.51931|0.51931	Nucleotide-binding, alpha-beta plait (1);|.	0.150427|.	0.64402|.	N|.	0.000014|.	T|T	0.51770|0.51770	0.1694|0.1694	N|N	0.25992|0.25992	0.78|0.78	0.48452|0.48452	D|D	0.99965|0.99965	B;B;B;B;B;B|.	0.27679|.	0.025;0.014;0.185;0.172;0.025;0.007|.	B;B;B;B;B;B|.	0.23275|.	0.022;0.008;0.021;0.045;0.014;0.004|.	T|T	0.53129|0.53129	-0.8482|-0.8482	10|6	0.10902|0.48119	T|T	0.67|0.1	-2.8965|-2.8965	10.9845|10.9845	0.47514|0.47514	0.0:0.8504:0.0:0.1496|0.0:0.8504:0.0:0.1496	.|.	308;299;35;300;309;310|.	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1|.	.;.;.;.;.;CELF4_HUMAN|.	T|H	310;309;308;300|192	ENSP00000406823:A309T;ENSP00000410584:A308T;ENSP00000335631:A300T|.	ENSP00000335631:A300T|ENSP00000355189:R192H	A|R	-|-	1|2	0|0	CELF4|CELF4	33106998|33106998	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.949000|2.949000	0.49074|0.49074	1.427000|1.427000	0.47276|0.47276	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.657	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		52	261	0	0	0	1	0	52	261				
MAPK7	5598	broad.mit.edu	37	17	19286530	19286530	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286530C>A	ENST00000308406.5	+	7	2823	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	813					cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGCCTGACCTCCAGGACCC	0.597																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(2437-2439)Ctc>Atc		mitogen-activated protein kinase 7							51.0	49.0	49.0					17																	19286530		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19286530C>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2437C>A	17.37:g.19286530C>A	ENSP00000311005:p.Leu813Ile					MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I|MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000571657.1_3'UTR	p.L813I	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			7	2823	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		813					Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2437C>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182562	0.78677	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.80480	-1.14;-1.38;-1.14;-1.14	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000022	T	0.82130	0.4970	L	0.54323	1.7	0.29680	N	0.841812	P	0.51057	0.941	P	0.49332	0.607	T	0.81733	-0.0798	10	0.87932	D	0	-18.1186	15.6104	0.76713	0.0:1.0:0.0:0.0	.	813	Q13164	MK07_HUMAN	I	813;674;813;813	ENSP00000311005:L813I;ENSP00000299612:L674I;ENSP00000378968:L813I;ENSP00000378966:L813I	ENSP00000299612:L674I	L	+	1	0	MAPK7	19227123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.757000	0.62213	2.269000	0.75478	0.491000	0.48974	CTC		0.597	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		45	233	1	0	3.21987e-24	1	3.67739e-24	45	233				
UNC13C	440279	broad.mit.edu	37	15	54626001	54626001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54626001G>A	ENST00000260323.11	+	15	4531	c.4531G>A	c.(4531-4533)Gac>Aac	p.D1511N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1511N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1511					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGACTGCAAGACCTGAAATC	0.348																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4531-4533)Gac>Aac		unc-13 homolog C (C. elegans)							140.0	130.0	133.0					15																	54626001		1851	4083	5934	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54626001G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4531G>A	15.37:g.54626001G>A	ENSP00000260323:p.Asp1511Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1511N	p.D1511N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4531	+			1511					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4531G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201310	0.94997	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84370	-1.82;-1.84;-1.83	5.66	5.66	0.87406	.	0.047752	0.85682	D	0.000000	D	0.92685	0.7675	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92876	0.6319	10	0.66056	D	0.02	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	1511;1511	F5H090;Q8NB66	.;UN13C_HUMAN	N	1511;1511;1509	ENSP00000260323:D1511N;ENSP00000438156:D1511N;ENSP00000442569:D1509N	ENSP00000260323:D1511N	D	+	1	0	UNC13C	52413293	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.575000	0.98187	2.826000	0.97356	0.655000	0.94253	GAC		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		11	44	0	0	0	1	0	11	44				
CLIP3	25999	broad.mit.edu	37	19	36517490	36517490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517490C>T	ENST00000360535.4	-	5	787	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	CLIP3_ENST00000593074.1_Missense_Mutation_p.R187Q|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	187					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCTCACCTCGCGGCCTCGC	0.667																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(559-561)cGa>cAa		CAP-GLY domain containing linker protein 3							43.0	41.0	42.0					19																	36517490		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36517490C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.560G>A	19.37:g.36517490C>T	ENSP00000353732:p.Arg187Gln					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R187Q	p.R187Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	787	-	Esophageal squamous(110;0.162)		187					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.560G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580515	0.65992	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.52983	0.64	4.41	4.41	0.53225	Ankyrin repeat-containing domain (4);	0.251724	0.37715	N	0.001976	T	0.25680	0.0625	N	0.25485	0.75	0.38366	D	0.944743	P	0.47604	0.898	B	0.32533	0.147	T	0.11155	-1.0599	10	0.28530	T	0.3	-13.0204	8.1798	0.31305	0.0:0.8928:0.0:0.1071	.	187	Q96DZ5	CLIP3_HUMAN	Q	187;69;163	ENSP00000353732:R187Q	ENSP00000353732:R187Q	R	-	2	0	CLIP3	41209330	0.970000	0.33590	0.634000	0.29324	0.830000	0.47004	1.817000	0.39002	2.279000	0.76181	0.455000	0.32223	CGA		0.667	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		41	174	0	0	0	1	0	41	174				
ZBTB45	84878	broad.mit.edu	37	19	59028114	59028114	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028114C>A	ENST00000594051.1	-	2	1407	c.927G>T	c.(925-927)caG>caT	p.Q309H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	309	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGCAGTCGGGCTGGACAGGGG	0.637																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(925-927)caG>caT		zinc finger and BTB domain containing 45							36.0	37.0	37.0					19																	59028114		2203	4298	6501	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028114C>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.927G>T	19.37:g.59028114C>A	ENSP00000469089:p.Gln309His					ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H	p.Q309H			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1407	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	309			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.927G>T	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	10.90	1.481198	0.26598	.	.	ENSG00000119574	ENST00000354590	T	0.09630	2.96	4.12	-4.62	0.03370	.	0.627301	0.14119	N	0.340177	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.28232	0.087	T	0.30357	-0.9981	10	0.56958	D	0.05	.	2.0473	0.03563	0.1271:0.3098:0.1254:0.4378	.	309	Q96K62	ZBT45_HUMAN	H	309	ENSP00000346603:Q309H	ENSP00000346603:Q309H	Q	-	3	2	ZBTB45	63719926	0.000000	0.05858	0.036000	0.18154	0.541000	0.35023	-1.308000	0.02730	-0.845000	0.04179	0.467000	0.42956	CAG		0.637	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		59	244	1	0	6.60958e-23	1	7.49606e-23	59	244				
SLK	9748	broad.mit.edu	37	10	105761972	105761972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105761972G>A	ENST00000369755.3	+	9	1581	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	SLK_ENST00000335753.4_Missense_Mutation_p.A346T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	346	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTAGTATCGCCAGCTCTGA	0.353																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(1036-1038)Gcc>Acc		STE20-like kinase							71.0	76.0	74.0					10																	105761972		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105761972G>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1036G>A	10.37:g.105761972G>A	ENSP00000358770:p.Ala346Thr					SLK_ENST00000335753.4_Missense_Mutation_p.A346T	p.A346T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1581	+		Colorectal(252;0.178)	346			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1036G>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759677	0.69763	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.24538	1.85;1.85	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.060003	0.64402	D	0.000003	T	0.49558	0.1564	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.955;0.99	T	0.33394	-0.9870	10	0.42905	T	0.14	.	19.5347	0.95244	0.0:0.0:1.0:0.0	.	346;346	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	346	ENSP00000336824:A346T;ENSP00000358770:A346T	ENSP00000336824:A346T	A	+	1	0	SLK	105751962	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.320000	0.96346	2.622000	0.88805	0.455000	0.32223	GCC		0.353	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		90	451	0	0	0	1	0	90	451				
ANKRD17	26057	broad.mit.edu	37	4	73957906	73957906	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73957906T>G	ENST00000358602.4	-	29	5555	c.5439A>C	c.(5437-5439)tcA>tcC	p.S1813S	ANKRD17_ENST00000330838.6_Silent_p.S1562S|ANKRD17_ENST00000509867.2_Silent_p.S1700S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1813					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAATTTGCTGAGGAGCTTT	0.378																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5437-5439)tcA>tcC		ankyrin repeat domain 17							152.0	150.0	150.0					4																	73957906		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957906T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5439A>C	4.37:g.73957906T>G						ANKRD17_ENST00000330838.6_Silent_p.S1562S|ANKRD17_ENST00000509867.2_Silent_p.S1700S	p.S1813S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	5555	-	Breast(15;0.000295)		1813					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.5439A>C	CCDS34004.1																																																																																				0.378	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		157	674	0	0	0	1	0	157	674				
SYDE1	85360	broad.mit.edu	37	19	15221544	15221544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15221544C>T	ENST00000342784.2	+	4	1319	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	SYDE1_ENST00000600440.1_Missense_Mutation_p.R363W|SYDE1_ENST00000600252.1_Missense_Mutation_p.R87W	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	430	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCGAGGGCTGCGGGTGAGCAC	0.687																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(259-261)Cgg>Tgg		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							8.0	11.0	10.0					19																	15221544		2176	4239	6415	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15221544C>T	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1288C>T	19.37:g.15221544C>T	ENSP00000341489:p.Arg430Trp					SYDE1_ENST00000600440.1_Missense_Mutation_p.R363W|SYDE1_ENST00000342784.2_Missense_Mutation_p.R430W	p.R87W			Q6ZW31	SYDE1_HUMAN			1	1901	+			430			Pro-rich.		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.259C>T	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569073	0.45798	.	.	ENSG00000105137	ENST00000342784	T	0.20598	2.06	4.94	1.41	0.22369	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.098867	0.42821	D	0.000654	T	0.42108	0.1188	M	0.71871	2.18	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.29366	-1.0014	10	0.87932	D	0	.	11.9895	0.53168	0.4511:0.5489:0.0:0.0	.	363;363;430	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	W	430	ENSP00000341489:R430W	ENSP00000341489:R430W	R	+	1	2	SYDE1	15082544	0.992000	0.36948	0.990000	0.47175	0.087000	0.18053	1.567000	0.36407	0.100000	0.17581	0.471000	0.43371	CGG		0.687	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		9	28	0	0	0	1	0	9	28				
ERCC4	2072	broad.mit.edu	37	16	14022092	14022092	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14022092G>T	ENST00000311895.7	+	4	801	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CTD-2135D7.2_ENST00000575137.1_RNA|ERCC4_ENST00000574781.1_3'UTR|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000575156.1_Splice_Site_p.K264N	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	264	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTTGACAAGGTACTCTTTT	0.284			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.e4+1	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							59.0	60.0	60.0					16																	14022092		2197	4300	6497	SO:0001630	splice_region_variant	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14022092G>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.792+1G>T	16.37:g.14022092G>T						ERCC4_ENST00000574781.1_3'UTR|ERCC4_ENST00000575156.1_Splice_Site_p.K264_splice	p.K264_splice	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			4	801	+			264					A5PKV6|A8K111|O00140|Q8TD83	Splice_Site	SNP	ENST00000311895.7	37	c.792_splice	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616793	0.66672	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.66280	-0.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.83312	2.635	0.80722	D	1	P;D	0.56035	0.687;0.974	B;P	0.55615	0.259;0.78	T	0.76751	-0.2844	10	0.41790	T	0.15	-34.8801	19.8676	0.96824	0.0:0.0:1.0:0.0	.	264;264	A5PKV6;Q92889	.;XPF_HUMAN	N	264;253;253	ENSP00000310520:K264N	ENSP00000310520:K264N	K	+	3	2	ERCC4	13929593	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.247000	0.78257	2.941000	0.99782	0.655000	0.94253	AAG		0.284	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	Missense_Mutation	37	189	1	0	1.36161e-19	1	1.52027e-19	37	189				
ADCY7	113	broad.mit.edu	37	16	50338418	50338418	+	Missense_Mutation	SNP	G	G	A	rs79253515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50338418G>A	ENST00000394697.2	+	11	1856	c.1516G>A	c.(1516-1518)Gtg>Atg	p.V506M	ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M			P51828	ADCY7_HUMAN	adenylate cyclase 7	506					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCGTGAGAGCGTGAGCAGTGG	0.677																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1516-1518)Gtg>Atg		adenylate cyclase 7	Bromocriptine(DB01200)						57.0	60.0	59.0					16																	50338418		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50338418G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1516G>A	16.37:g.50338418G>A	ENSP00000378187:p.Val506Met					ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M	p.V506M			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	11	1856	+		all_cancers(37;0.0127)	506					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1516G>A	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	1.705	-0.500671	0.04261	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.78126	-1.15;-1.15;-1.15	4.84	3.85	0.44370	.	0.219761	0.21876	U	0.067804	T	0.67487	0.2898	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.33299	0.231;0.407	B;B	0.29598	0.104;0.063	T	0.69884	-0.5024	10	0.44086	T	0.13	.	14.2036	0.65721	0.0:0.1916:0.8084:0.0	.	506;506	P51828;F5H4D1	ADCY7_HUMAN;.	M	506	ENSP00000445046:V506M;ENSP00000378187:V506M;ENSP00000254235:V506M	ENSP00000254235:V506M	V	+	1	0	ADCY7	48895919	0.938000	0.31826	0.732000	0.30844	0.037000	0.13140	1.432000	0.34936	2.215000	0.71742	0.491000	0.48974	GTG		0.677	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			84	410	0	0	0	1	0	84	410				
PLEC	5339	broad.mit.edu	37	8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGAGCAGGTTGTAGGTCTC	0.657																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11401-11403)aAc>aGc		plectin							34.0	40.0	38.0					8																	144992998		2010	4159	6169	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992998T>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11402A>G	8.37:g.144992998T>C	ENSP00000323856:p.Asn3801Ser					PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S	p.N3801S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11571	-			3801			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11402A>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460107	0.26248	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.25	1.7	0.24286	.	0.081077	0.47093	N	0.000254	T	0.60392	0.2265	M	0.65498	2.005	0.39526	D	0.968589	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.55140	-0.8187	10	0.40728	T	0.16	.	9.5558	0.39337	0.0:0.1089:0.0:0.8911	.	3691;3650;3642;3801;3632;3664;3668;3664	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3664;3668;3664;3632;3801;3642;3650;3691;3687	ENSP00000344848:N3664S;ENSP00000350277:N3668S;ENSP00000346602:N3664S;ENSP00000381756:N3632S;ENSP00000323856:N3801S;ENSP00000347044:N3642S;ENSP00000348702:N3650S;ENSP00000388180:N3691S;ENSP00000434583:N3687S	ENSP00000323856:N3801S	N	-	2	0	PLEC	145064986	1.000000	0.71417	0.940000	0.37924	0.948000	0.59901	1.617000	0.36943	0.154000	0.19237	0.368000	0.22195	AAC		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		43	321	0	0	0	1	0	43	321				
APLP2	334	broad.mit.edu	37	11	130011402	130011402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130011402G>A	ENST00000263574.5	+	16	2041	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	APLP2_ENST00000345598.5_Missense_Mutation_p.E416K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000278756.7_Missense_Mutation_p.E655K|APLP2_ENST00000338167.5_Missense_Mutation_p.E645K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000528499.1_Missense_Mutation_p.E589K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	657					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGTCATTGACGAGACTCTGGA	0.502																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1969-1971)Gag>Aag		amyloid beta (A4) precursor-like protein 2							113.0	109.0	111.0					11																	130011402		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130011402G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1969G>A	11.37:g.130011402G>A	ENSP00000263574:p.Glu657Lys					APLP2_ENST00000345598.5_Missense_Mutation_p.E416K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000278756.7_Missense_Mutation_p.E655K|APLP2_ENST00000528499.1_Missense_Mutation_p.E589K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000338167.5_Missense_Mutation_p.E645K	p.E657K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	16	2041	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	657					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1969G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205480	0.79127	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94376	-3.37;-3.22;-1.68;-3.41;-1.89;-1.9;-1.88	6.17	6.17	0.99709	.	0.099482	0.64402	D	0.000003	D	0.94571	0.8251	L	0.29908	0.895	0.80722	D	1	D;D;P;P;D;D;P	0.89917	0.998;0.969;0.932;0.803;0.972;1.0;0.789	P;B;B;B;B;D;B	0.79108	0.805;0.225;0.263;0.268;0.31;0.992;0.128	D	0.93070	0.6482	9	.	.	.	-36.2148	19.8676	0.96824	0.0:0.0:1.0:0.0	.	445;657;601;416;583;589;645	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	K	589;445;657;416;645;655;552	ENSP00000435914:E589K;ENSP00000443728:E445K;ENSP00000263574:E657K;ENSP00000263575:E416K;ENSP00000345444:E645K;ENSP00000278756:E655K;ENSP00000444122:E552K	.	E	+	1	0	APLP2	129516612	1.000000	0.71417	0.980000	0.43619	0.833000	0.47200	9.230000	0.95299	2.941000	0.99782	0.655000	0.94253	GAG		0.502	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		36	190	0	0	0	1	0	36	190				
RAPGEF2	9693	broad.mit.edu	37	4	160262774	160262774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160262774G>A	ENST00000264431.4	+	14	2529	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	704					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGATGCTCAGGAGTTGTTGAG	0.398																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(2110-2112)Gag>Aag		Rap guanine nucleotide exchange factor (GEF) 2							75.0	70.0	71.0					4																	160262774		1909	4136	6045	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160262774G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2110G>A	4.37:g.160262774G>A	ENSP00000264431:p.Glu704Lys						p.E704K	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	14	2529	+	all_hematologic(180;0.24)		704					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.2110G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549779	0.86127	.	.	ENSG00000109756	ENST00000264431	T	0.28666	1.6	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.088202	0.85682	D	0.000000	T	0.44705	0.1306	L	0.60455	1.87	0.80722	D	1	P	0.51057	0.941	P	0.49451	0.611	T	0.35599	-0.9782	10	0.87932	D	0	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	704	Q9Y4G8	RPGF2_HUMAN	K	704	ENSP00000264431:E704K	ENSP00000264431:E704K	E	+	1	0	RAPGEF2	160482224	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.841000	0.99482	2.879000	0.98667	0.650000	0.86243	GAG		0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		48	251	0	0	0	1	0	48	251				
SVEP1	79987	broad.mit.edu	37	9	113166795	113166795	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113166795T>C	ENST00000401783.2	-	39	9814	c.9478A>G	c.(9478-9480)Aca>Gca	p.T3160A	SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3160	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGTGAATGTATCTGTATCT	0.393																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9478-9480)Aca>Gca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							252.0	242.0	245.0					9																	113166795		1888	4116	6004	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113166795T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9478A>G	9.37:g.113166795T>C	ENSP00000384917:p.Thr3160Ala					SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137A	p.T3160A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			39	9814	-			3160			Sushi 29.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9478A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916568	0.52546	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65916	-0.18;-0.18;-0.18	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.294359	0.38217	N	0.001779	T	0.63153	0.2487	M	0.73372	2.23	0.80722	D	1	P	0.44429	0.835	P	0.45071	0.468	T	0.61729	-0.7003	10	0.22706	T	0.39	.	10.7126	0.45993	0.0:0.0798:0.0:0.9202	.	3160	Q4LDE5	SVEP1_HUMAN	A	3160;3137;1086	ENSP00000384917:T3160A;ENSP00000363593:T3137A;ENSP00000297826:T1086A	ENSP00000297826:T1086A	T	-	1	0	SVEP1	112206616	0.989000	0.36119	0.992000	0.48379	0.603000	0.37013	1.670000	0.37502	2.200000	0.70718	0.482000	0.46254	ACA		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				188	769	0	0	0	1	0	188	769				
NLGN1	22871	broad.mit.edu	37	3	173998885	173998885	+	Missense_Mutation	SNP	G	G	A	rs527860138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173998885G>A	ENST00000457714.1	+	7	2693	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	772					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R755Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTGGTTCTTCGGACCGCCTGT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18182	0.0		0.0	False		,,,				2504	0.001					ENST00000457714.1																			1	Substitution - Missense(1)	p.R755Q(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2263-2265)cGg>cAg		neuroligin 1							175.0	151.0	159.0					3																	173998885		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998885G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2264G>A	3.37:g.173998885G>A	ENSP00000392500:p.Arg755Gln					NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q	p.R755Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2693	+	Ovarian(172;0.0025)		772					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2264G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583377	0.96578	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70399	-0.47;-0.47;-0.47;-0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84492	0.5484	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.85217	0.1024	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	755	Q8N2Q7-2	.	Q	755;755;755;795	ENSP00000392500:R755Q;ENSP00000354541:R755Q;ENSP00000441108:R755Q;ENSP00000385750:R795Q	ENSP00000354541:R755Q	R	+	2	0	NLGN1	175481579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.009000	0.88606	2.793000	0.96121	0.591000	0.81541	CGG		0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		71	323	0	0	0	1	0	71	323				
GSG2	83903	broad.mit.edu	37	17	3628844	3628844	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628844T>C	ENST00000325418.4	+	1	1634	c.1615T>C	c.(1615-1617)Tcc>Ccc	p.S539P	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	539	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GATCATCATCTCCAAAGAGTT	0.473																																						ENST00000325418.4																			0											c.(1615-1617)Tcc>Ccc		germ cell associated 2 (haspin)							74.0	69.0	71.0					17																	3628844		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628844T>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1615T>C	17.37:g.3628844T>C	ENSP00000325290:p.Ser539Pro					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.S539P	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1634	+			539			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1615T>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734608	0.69189	.	.	ENSG00000177602	ENST00000325418	T	0.66099	-0.19	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218716	0.30356	N	0.009804	T	0.74275	0.3695	L	0.58428	1.81	0.51482	D	0.999925	D	0.89917	1.0	D	0.74023	0.982	T	0.77112	-0.2708	10	0.87932	D	0	-29.5602	12.8971	0.58106	0.0:0.0:0.0:1.0	.	539	Q8TF76	HASP_HUMAN	P	539	ENSP00000325290:S539P	ENSP00000325290:S539P	S	+	1	0	GSG2	3575593	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.871000	0.69628	2.139000	0.66308	0.533000	0.62120	TCC		0.473	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		74	360	0	0	0	1	0	74	360				
TSC2	7249	broad.mit.edu	37	16	2129279	2129279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2129279C>T	ENST00000219476.3	+	28	3764	c.3134C>T	c.(3133-3135)tCt>tTt	p.S1045F	TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F|TSC2_ENST00000439673.2_Missense_Mutation_p.S965F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1045					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTTCTAGGTCTCCTGTGGGC	0.647			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3133-3135)tCt>tTt		tuberous sclerosis 2							91.0	77.0	82.0					16																	2129279		2197	4300	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2129279C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3134C>T	16.37:g.2129279C>T	ENSP00000219476:p.Ser1045Phe					TSC2_ENST00000439673.2_Missense_Mutation_p.S965F|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F|TSC2_ENST00000568366.1_3'UTR	p.S1045F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			28	3764	+		Hepatocellular(780;0.0202)	1045					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3134C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695163	0.68386	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.91996	-2.87;-2.88;-2.95;-2.93;-2.84	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95535	0.8549	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.996	D;D;D;D;D;D	0.91635	0.986;0.999;0.994;0.999;0.988;0.982	D	0.94960	0.8107	10	0.40728	T	0.16	-24.1477	18.0348	0.89296	0.0:1.0:0.0:0.0	.	953;965;1045;1001;1001;1045	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	F	1045;1002;1002;965;953;1045	ENSP00000219476:S1045F;ENSP00000248099:S1002F;ENSP00000399232:S965F;ENSP00000371978:S953F;ENSP00000344383:S1045F	ENSP00000219476:S1045F	S	+	2	0	TSC2	2069280	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	5.798000	0.69095	2.339000	0.79563	0.561000	0.74099	TCT		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		87	362	0	0	0	1	0	87	362				
GPR125	166647	broad.mit.edu	37	4	22390383	22390383	+	Missense_Mutation	SNP	T	T	G	rs535821659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390383T>G	ENST00000334304.5	-	19	3180	c.2911A>C	c.(2911-2913)Aat>Cat	p.N971H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	971					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCTGATGATTTATTTCGCCA	0.433																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2911-2913)Aat>Cat		G protein-coupled receptor 125							97.0	96.0	96.0					4																	22390383		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390383T>G	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2911A>C	4.37:g.22390383T>G	ENSP00000334952:p.Asn971His					GPR125_ENST00000282943.5_5'UTR	p.N971H	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3180	-		Breast(46;0.198)	971					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2911A>C	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607184	0.14002	.	.	ENSG00000152990	ENST00000334304	T	0.53206	0.63	5.84	0.449	0.16619	GPCR, family 2-like (1);	0.655837	0.16888	N	0.195424	T	0.27731	0.0682	N	0.19112	0.55	0.09310	N	1	B;B	0.20671	0.003;0.047	B;B	0.19391	0.005;0.025	T	0.13818	-1.0495	10	0.41790	T	0.15	-1.4819	5.9665	0.19328	0.0:0.1913:0.2328:0.5759	.	828;971	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	971	ENSP00000334952:N971H	ENSP00000334952:N971H	N	-	1	0	GPR125	21999481	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.505000	0.22642	-0.118000	0.11851	0.528000	0.53228	AAT		0.433	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			100	425	0	0	0	1	0	100	425				
NDST3	9348	broad.mit.edu	37	4	119145758	119145758	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119145758C>T	ENST00000296499.5	+	7	2055	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	551	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CGACTTCAGACTCTGCCTCCA	0.418																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1651-1653)aCt>aTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							97.0	97.0	97.0					4																	119145758		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119145758C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1652C>T	4.37:g.119145758C>T	ENSP00000296499:p.Thr551Ile					NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	p.T551I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			7	2055	+			551			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1652C>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032221	0.93575	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47177	1.11;0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	M	0.83692	2.655	0.46823	D	0.999214	D;D	0.89917	0.986;1.0	P;D	0.76575	0.835;0.988	T	0.76085	-0.3088	10	0.66056	D	0.02	.	19.649	0.95793	0.0:1.0:0.0:0.0	.	470;551	B4DI67;O95803	.;NDST3_HUMAN	I	551;470	ENSP00000296499:T551I;ENSP00000396625:T470I	ENSP00000296499:T551I	T	+	2	0	NDST3	119365206	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.694000	0.84235	2.635000	0.89317	0.650000	0.86243	ACT		0.418	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		47	378	0	0	0	1	0	47	378				
BAMBI	25805	broad.mit.edu	37	10	28970438	28970438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970438C>T	ENST00000375533.3	+	2	884	c.328C>T	c.(328-330)Cac>Tac	p.H110Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	110					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.H110Y(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CAGAGGGCTGCACGATGTTCT	0.532																																						ENST00000375533.3																			1	Substitution - Missense(1)	p.H110Y(1)	central_nervous_system(1)	central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(328-330)Cac>Tac		BMP and activin membrane-bound inhibitor							103.0	111.0	108.0					10																	28970438		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970438C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.328C>T	10.37:g.28970438C>T	ENSP00000364683:p.His110Tyr						p.H110Y	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			2	884	+			110						Missense_Mutation	SNP	ENST00000375533.3	37	c.328C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104114	0.37145	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.90069	-2.61	5.65	5.65	0.86999	.	0.224686	0.53938	D	0.000058	D	0.84469	0.5479	L	0.44542	1.39	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.78671	-0.2113	10	0.28530	T	0.3	-21.1251	13.9437	0.64071	0.0:0.9276:0.0:0.0724	.	110;110	Q13145;Q53G66	BAMBI_HUMAN;.	Y	110;97	ENSP00000364683:H110Y	ENSP00000364683:H110Y	H	+	1	0	BAMBI	29010444	1.000000	0.71417	0.952000	0.39060	0.723000	0.41478	6.037000	0.70956	2.668000	0.90789	0.655000	0.94253	CAC		0.532	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		66	389	0	0	0	1	0	66	389				
WDR25	79446	broad.mit.edu	37	14	100847746	100847746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847746G>A	ENST00000335290.6	+	2	711	c.485G>A	c.(484-486)aGc>aAc	p.S162N	WDR25_ENST00000402312.3_Missense_Mutation_p.S162N|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554998.1_Missense_Mutation_p.S162N|WDR25_ENST00000554175.1_Missense_Mutation_p.S162N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	162										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAAAATGGCAGCTCTTTTCAG	0.468																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(484-486)aGc>aAc		WD repeat domain 25							81.0	91.0	88.0					14																	100847746		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100847746G>A	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.485G>A	14.37:g.100847746G>A	ENSP00000334148:p.Ser162Asn					WDR25_ENST00000402312.3_Missense_Mutation_p.S162N|WDR25_ENST00000554998.1_Missense_Mutation_p.S162N|WDR25_ENST00000554175.1_Missense_Mutation_p.162_162insN	p.S162N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			2	711	+		Melanoma(154;0.212)	162					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.485G>A	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089731	0.20390	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.66099	-0.19;-0.19;-0.19;1.78	5.53	0.307	0.15811	.	0.568068	0.17771	N	0.162570	T	0.44329	0.1288	L	0.35854	1.095	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.22068	-1.0227	10	0.35671	T	0.21	-8.6233	4.6728	0.12698	0.3262:0.0:0.5353:0.1385	.	162	Q64LD2	WDR25_HUMAN	N	162	ENSP00000450661:S162N;ENSP00000385540:S162N;ENSP00000334148:S162N;ENSP00000450727:S162N	ENSP00000334148:S162N	S	+	2	0	WDR25	99917499	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.463000	0.06696	-0.223000	0.09943	-0.345000	0.07892	AGC		0.468	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		126	592	0	0	0	1	0	126	592				
EEF1DP3	196549	broad.mit.edu	37	13	32527006	32527006	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32527006C>A	ENST00000428783.1	+	0	706							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										GCTGAACGTGCTGGAGAAGAG	0.672																																						ENST00000428783.1																			0																				14.0	18.0	17.0					13																	32527006		692	1591	2283			0							g.chr13:32527006C>A			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527006C>A														0	706	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.672	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		29	133	1	0	3.73988e-18	1	4.14332e-18	29	133				
ARHGEF15	22899	broad.mit.edu	37	17	8215524	8215524	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8215524C>A	ENST00000361926.3	+	2	277	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	56	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCACCAACCCCAATGTGCACC	0.622																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(166-168)cCa>cAa		Rho guanine nucleotide exchange factor (GEF) 15							99.0	102.0	101.0					17																	8215524		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215524C>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.167C>A	17.37:g.8215524C>A	ENSP00000355026:p.Pro56Gln					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	p.P56Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	277	+			56			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.167C>A	CCDS11139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.850|5.850	0.341069|0.341069	0.11069|0.11069	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000361926;ENST00000421050|ENST00000455564	T;T|.	0.72051|.	-0.62;-0.62|.	5.14|5.14	0.796|0.796	0.18648|0.18648	.|.	0.685542|.	0.12656|.	N|.	0.450016|.	T|T	0.25005|0.25005	0.0607|0.0607	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|6	0.66056|0.52906	D|T	0.02|0.07	-0.5385|-0.5385	3.993|3.993	0.09545|0.09545	0.1636:0.5705:0.0:0.2659|0.1636:0.5705:0.0:0.2659	.|.	56;56|.	D3DTR7;O94989|.	.;ARHGF_HUMAN|.	Q|K	56|18	ENSP00000355026:P56Q;ENSP00000412505:P56Q|.	ENSP00000355026:P56Q|ENSP00000413324:Q18K	P|Q	+|+	2|1	0|0	ARHGEF15|ARHGEF15	8156249|8156249	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.798000|0.798000	0.45092|0.45092	0.024000|0.024000	0.13555|0.13555	0.056000|0.056000	0.16144|0.16144	-0.145000|-0.145000	0.13849|0.13849	CCA|CAA		0.622	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		134	496	1	0	6.58568e-60	1	8.27548e-60	134	496				
TADA1	117143	broad.mit.edu	37	1	166839020	166839020	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166839020C>A	ENST00000367874.4	-	2	239	c.146G>T	c.(145-147)aGa>aTa	p.R49I		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	49					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TGTGAGAAGTCTATGAGCTTC	0.363																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(145-147)aGa>aTa		transcriptional adaptor 1							133.0	136.0	135.0					1																	166839020		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166839020C>A	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.146G>T	1.37:g.166839020C>A	ENSP00000356848:p.Arg49Ile						p.R49I	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN			2	239	-			49					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.146G>T	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936183	0.92458	.	.	ENSG00000152382	ENST00000367874	T	0.50813	0.73	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.49126	1.545	0.47737	D	0.999500	D;D	0.76494	0.992;0.999	D;D	0.74348	0.939;0.983	T	0.59380	-0.7465	9	0.72032	D	0.01	-12.1412	17.1185	0.86695	0.0:1.0:0.0:0.0	.	49;49	A8K4J9;Q96BN2	.;TADA1_HUMAN	I	49	ENSP00000356848:R49I	ENSP00000356848:R49I	R	-	2	0	TADA1	165105644	0.992000	0.36948	0.970000	0.41538	0.994000	0.84299	7.013000	0.76373	2.707000	0.92482	0.655000	0.94253	AGA		0.363	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		23	616	1	0	1.32003e-05	1	1.35269e-05	23	616				
DCHS1	8642	broad.mit.edu	37	11	6661247	6661247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6661247G>A	ENST00000299441.3	-	2	2009	c.1598C>T	c.(1597-1599)gCt>gTt	p.A533V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGGCAGCCGTAGTGAT	0.587																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(1597-1599)gCt>gTt		dachsous cadherin-related 1							78.0	73.0	75.0					11																	6661247		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661247G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1598C>T	11.37:g.6661247G>A	ENSP00000299441:p.Ala533Val						p.A533V	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	2009	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	533			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1598C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	4.278	0.050784	0.08243	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.181621	0.26711	N	0.022890	T	0.57227	0.2039	L	0.28115	0.83	0.37390	D	0.912414	D	0.76494	0.999	D	0.83275	0.996	T	0.59685	-0.7408	10	0.36615	T	0.2	.	18.0581	0.89369	0.0:0.0:1.0:0.0	.	533	Q96JQ0	PCD16_HUMAN	V	533	ENSP00000299441:A533V	ENSP00000299441:A533V	A	-	2	0	DCHS1	6617823	1.000000	0.71417	0.231000	0.23993	0.408000	0.30992	3.776000	0.55356	2.588000	0.87417	0.579000	0.79373	GCT		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		69	225	0	0	0	1	0	69	225				
MAST4	375449	broad.mit.edu	37	5	66461635	66461635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461635C>T	ENST00000403625.2	+	29	6923	c.6628C>T	c.(6628-6630)Cgg>Tgg	p.R2210W	MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2213W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2213	Pro-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCACCCCGACCGGTCCCTCTC	0.647																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6637-6639)Cgg>Tgg		microtubule associated serine/threonine kinase family member 4							13.0	17.0	16.0					5																	66461635		1858	4102	5960	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461635C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6628C>T	5.37:g.66461635C>T	ENSP00000385727:p.Arg2210Trp					MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|MAST4_ENST00000403625.2_Missense_Mutation_p.R2210W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W|MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W	p.R2213W			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6945	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2213					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6637C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.813212|1.813212	0.32053|0.32053	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.71222	.|-0.53;-0.53;-0.55;-0.55;-0.53	4.86|4.86	1.07|1.07	0.20283|0.20283	.|.	.|0.211736	.|0.32901	.|N	.|0.005507	T|T	0.70692|0.70692	0.3253|0.3253	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|P;P	.|0.59546	.|0.803;0.859	T|T	0.65557|0.65557	-0.6139|-0.6139	5|10	.|0.72032	.|D	.|0.01	-14.3162|-14.3162	11.8586|11.8586	0.52453|0.52453	0.5134:0.4866:0.0:0.0|0.5134:0.4866:0.0:0.0	.|.	.|2213;2021	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|W	1266|2213;2210;2021;2031;2031;2016	.|ENSP00000385048:R2213W;ENSP00000385727:R2210W;ENSP00000384313:R2021W;ENSP00000384099:R2031W;ENSP00000261569:R2016W	.|ENSP00000261569:R2016W	P|R	+|+	2|1	0|2	MAST4|MAST4	66497391|66497391	0.096000|0.096000	0.21769|0.21769	0.586000|0.586000	0.28679|0.28679	0.010000|0.010000	0.07245|0.07245	0.580000|0.580000	0.23803|0.23803	0.034000|0.034000	0.15491|0.15491	-0.397000|-0.397000	0.06425|0.06425	CCG|CGG		0.647	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			18	98	0	0	0	1	0	18	98				
PTPN4	5775	broad.mit.edu	37	2	120692461	120692461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692461C>T	ENST00000263708.2	+	15	2053	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	428					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TCATACTTCCCCAAGCGAAGT	0.413																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1282-1284)Cca>Tca		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						144.0	128.0	133.0					2																	120692461		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120692461C>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1282C>T	2.37:g.120692461C>T	ENSP00000263708:p.Pro428Ser					PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	p.P428S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			15	2053	+			428					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1282C>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317165	0.81469	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.56103	0.48;0.48;0.48	5.75	3.88	0.44766	.	0.046193	0.85682	D	0.000000	T	0.42268	0.1195	L	0.34521	1.04	0.50171	D	0.99985	B	0.25667	0.131	B	0.25140	0.058	T	0.26916	-1.0089	10	0.45353	T	0.12	.	13.0295	0.58835	0.129:0.747:0.1239:0.0	.	428	P29074	PTN4_HUMAN	S	428;61;54	ENSP00000263708:P428S;ENSP00000445841:P61S;ENSP00000387457:P54S	ENSP00000263708:P428S	P	+	1	0	PTPN4	120408931	0.999000	0.42202	0.756000	0.31282	0.979000	0.70002	4.104000	0.57790	0.828000	0.34709	0.650000	0.86243	CCA		0.413	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			96	247	0	0	0	1	0	96	247				
EFTUD2	9343	broad.mit.edu	37	17	42932031	42932031	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42932031A>G	ENST00000426333.2	-	22	2449	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L|EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	718					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTGGTCTGGAAGAACTCTCCC	0.577																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2152-2154)Ttc>Ctc		elongation factor Tu GTP binding domain containing 2							72.0	68.0	70.0					17																	42932031		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42932031A>G	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2152T>C	17.37:g.42932031A>G	ENSP00000392094:p.Phe718Leu					EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L	p.F718L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			22	2449	-		Prostate(33;0.109)	718					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2152T>C	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710728	0.68730	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.26373	1.74;1.74	5.14	5.14	0.70334	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	N	0.17082	0.46	0.80722	D	1	B;B	0.27316	0.175;0.071	B;B	0.37304	0.246;0.107	T	0.07046	-1.0793	10	0.10636	T	0.68	-7.146	15.1331	0.72542	1.0:0.0:0.0:0.0	.	708;718	B4DMC0;Q15029	.;U5S1_HUMAN	L	718;708;683	ENSP00000392094:F718L;ENSP00000385873:F683L	ENSP00000262414:F708L	F	-	1	0	EFTUD2	40287557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	2.178000	0.69098	0.533000	0.62120	TTC		0.577	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		45	294	0	0	0	1	0	45	294				
R3HDM1	23518	broad.mit.edu	37	2	136409370	136409370	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136409370C>T	ENST00000264160.4	+	17	2061	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P509L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	564							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGTTCTGACCCTCATGCCGCC	0.502																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1690-1692)cCt>cTt		R3H domain containing 1							203.0	181.0	189.0					2																	136409370		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136409370C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1691C>T	2.37:g.136409370C>T	ENSP00000264160:p.Pro564Leu					R3HDM1_ENST00000410054.1_Missense_Mutation_p.P509L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L	p.P564L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2061	+			564					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1691C>T	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863531	0.91511	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.42	5.42	0.78866	.	0.061254	0.64402	D	0.000002	T	0.68568	0.3015	M	0.75777	2.31	0.80722	D	1	D;P;D;D	0.61697	0.99;0.937;0.986;0.986	D;B;P;P	0.62955	0.909;0.328;0.674;0.674	T	0.71978	-0.4429	10	0.72032	D	0.01	-9.5794	19.2069	0.93734	0.0:1.0:0.0:0.0	.	436;565;509;564	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	L	436;564;435;509;565	ENSP00000386457:P436L;ENSP00000264160:P564L;ENSP00000331396:P435L;ENSP00000386877:P509L;ENSP00000387010:P565L	ENSP00000264160:P564L	P	+	2	0	R3HDM1	136125840	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.235000	0.58666	2.520000	0.84964	0.561000	0.74099	CCT		0.502	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		250	749	0	0	0	1	0	250	749				
FCAMR	83953	broad.mit.edu	37	1	207131926	207131926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207131926G>A	ENST00000324852.4	-	8	2143	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	512					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCATCCTGGAGCATCTTTCTT	0.537																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(1669-1671)Ctc>Ttc		Fc receptor, IgA, IgM, high affinity							107.0	98.0	101.0					1																	207131926		692	1591	2283	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207131926G>A	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1669C>T	1.37:g.207131926G>A	ENSP00000316491:p.Leu557Phe					FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000450945.2_3'UTR	p.L557F	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			8	2143	-			512					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.1669C>T	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349753	0.41599	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.07327	3.2	4.73	-1.11	0.09840	.	0.717863	0.11432	N	0.564723	T	0.05135	0.0137	L	0.38838	1.175	0.09310	N	0.999999	P;B	0.36010	0.532;0.21	B;B	0.32342	0.144;0.088	T	0.33650	-0.9860	10	0.54805	T	0.06	-3.8209	1.4804	0.02435	0.1754:0.1378:0.4057:0.2811	.	532;512	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	F	557;515	ENSP00000316491:L557F	ENSP00000316491:L557F	L	-	1	0	FCAMR	205198549	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-1.637000	0.02015	-0.069000	0.12931	-0.314000	0.08810	CTC		0.537	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		107	368	0	0	0	1	0	107	368				
IQSEC1	9922	broad.mit.edu	37	3	12978092	12978092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12978092G>A	ENST00000273221.4	-	3	682	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	156	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGCGCAAGCGCTCGAAGTTC	0.577																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(466-468)Cgc>Tgc		IQ motif and Sec7 domain 1							39.0	32.0	34.0					3																	12978092		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12978092G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.466C>T	3.37:g.12978092G>A	ENSP00000273221:p.Arg156Cys					IQSEC1_ENST00000473088.1_5'UTR	p.R156C	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			3	682	-			156			IQ.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.466C>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094182|4.094182	0.76870|0.76870	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.63417	.|-0.04;-0.04	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80497|0.80497	0.4634|0.4634	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.997;0.998	D|D	0.83975|0.83975	0.0329|0.0329	4|9	.|0.87932	.|D	.|0	.|.	17.558|17.558	0.87898|0.87898	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;156	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	V|C	156|156;142;142	.|ENSP00000273221:R156C;ENSP00000402299:R142C	.|ENSP00000273221:R156C	A|R	-|-	2|1	0|0	IQSEC1|IQSEC1	12953092|12953092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.317000|6.317000	0.72862|0.72862	2.366000|2.366000	0.80165|0.80165	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.577	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		23	134	0	0	0	1	0	23	134				
OR6B1	135946	broad.mit.edu	37	7	143701395	143701395	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143701395C>T	ENST00000408922.2	+	1	374	c.306C>T	c.(304-306)taC>taT	p.Y102Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TACAACTGTACTTCTTCATTG	0.478																																						ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(304-306)taC>taT		olfactory receptor, family 6, subfamily B, member 1							158.0	158.0	158.0					7																	143701395		2149	4276	6425	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701395C>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.306C>T	7.37:g.143701395C>T							p.Y102Y	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	374	+	Melanoma(164;0.0783)		102					A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.306C>T	CCDS43667.1																																																																																				0.478	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			115	517	0	0	0	1	0	115	517				
DIP2B	57609	broad.mit.edu	37	12	51072569	51072569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51072569G>A	ENST00000301180.5	+	8	1058	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	342						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTTGAATCTGCCCTGCAGCG	0.552																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1024-1026)Gcc>Acc		DIP2 disco-interacting protein 2 homolog B (Drosophila)							79.0	70.0	73.0					12																	51072569		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51072569G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1024G>A	12.37:g.51072569G>A	ENSP00000301180:p.Ala342Thr						p.A342T	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			8	1058	+			342					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1024G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360615	0.82353	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.11277	2.79	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.64080	1.96	0.80722	D	1	B;D	0.89917	0.318;1.0	B;D	0.87578	0.176;0.998	T	0.00844	-1.1543	10	0.33141	T	0.24	-13.636	18.2696	0.90064	0.0:0.0:1.0:0.0	.	342;352	Q9P265;E9PHD6	DIP2B_HUMAN;.	T	352;342	ENSP00000301180:A342T	ENSP00000301180:A342T	A	+	1	0	DIP2B	49358836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.619000	0.88677	0.467000	0.42956	GCC		0.552	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		44	209	0	0	0	1	0	44	209				
HRNR	388697	broad.mit.edu	37	1	152187575	152187575	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152187575G>T	ENST00000368801.2	-	3	6605	c.6530C>A	c.(6529-6531)tCt>tAt	p.S2177Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2177					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGATCCAGACCCTTGTCG	0.637																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6529-6531)tCt>tAt		hornerin																																				SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187575G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6530C>A	1.37:g.152187575G>T	ENSP00000357791:p.Ser2177Tyr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2177Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6605	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2177					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6530C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.570	0.473440	0.12521	.	.	ENSG00000197915	ENST00000368801	T	0.05925	3.37	3.22	2.26	0.28386	.	.	.	.	.	T	0.05090	0.0136	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.32693	-0.9897	9	0.23891	T	0.37	.	4.5699	0.12205	0.1295:0.2328:0.6377:0.0	.	2177	Q86YZ3	HORN_HUMAN	Y	2177	ENSP00000357791:S2177Y	ENSP00000357791:S2177Y	S	-	2	0	HRNR	150454199	0.034000	0.19679	0.008000	0.14137	0.006000	0.05464	0.515000	0.22801	0.650000	0.30769	0.650000	0.86243	TCT		0.637	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		54	997	1	0	2.66277e-13	1	2.87267e-13	54	997				
LMAN1L	79748	broad.mit.edu	37	15	75116790	75116790	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75116790T>C	ENST00000309664.5	+	13	1561	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	LMAN1L_ENST00000379709.3_Silent_p.T462T|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	474						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTCAGACTGTAGGCTTCT	0.597																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1420-1422)acT>acC		lectin, mannose-binding, 1 like							120.0	117.0	118.0					15																	75116790		2197	4295	6492	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116790T>C	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1422T>C	15.37:g.75116790T>C						LMAN1L_ENST00000379709.3_Silent_p.T462T|RP11-414J4.2_ENST00000564823.1_RNA	p.T474T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			13	1561	+			474					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1422T>C	CCDS10270.1																																																																																				0.597	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			166	745	0	0	0	1	0	166	745				
CPT1B	1375	broad.mit.edu	37	22	51015765	51015765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51015765C>T	ENST00000360719.2	-	3	406	c.269G>A	c.(268-270)tGc>tAc	p.C90Y	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	90					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGAGGGAGGCATCTCTGGAT	0.617																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(268-270)tGc>tAc		carnitine palmitoyltransferase 1B (muscle)							72.0	66.0	68.0					22																	51015765		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51015765C>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.269G>A	22.37:g.51015765C>T	ENSP00000353945:p.Cys90Tyr					CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y	p.C90Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	3	406	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	90					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.269G>A	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414432	0.01145	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.25	0.368	0.16146	.	0.732438	0.14072	N	0.343293	T	0.32526	0.0832	N	0.00793	-1.18	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40136	-0.9579	10	0.02654	T	1	-2.9602	3.3974	0.07311	0.1851:0.355:0.0:0.4598	.	90;90;90	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	Y	90	ENSP00000385486:C90Y;ENSP00000312189:C90Y;ENSP00000353945:C90Y;ENSP00000409342:C90Y;ENSP00000414713:C90Y;ENSP00000379011:C90Y;ENSP00000406316:C90Y	ENSP00000312189:C90Y	C	-	2	0	CPT1B	49362631	0.000000	0.05858	0.264000	0.24511	0.960000	0.62799	-0.694000	0.05115	0.230000	0.21059	0.561000	0.74099	TGC		0.617	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		11	289	0	0	0	1	0	11	289				
EDEM1	9695	broad.mit.edu	37	3	5257520	5257520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5257520C>T	ENST00000256497.4	+	12	2024	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	631					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CTAGTGCAATCGTGTACCTGA	0.443																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1891-1893)Cgt>Tgt		ER degradation enhancer, mannosidase alpha-like 1							190.0	157.0	168.0					3																	5257520		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5257520C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1891C>T	3.37:g.5257520C>T	ENSP00000256497:p.Arg631Cys						p.R631C	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	12	2024	+			631					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1891C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805026	0.70682	.	.	ENSG00000134109	ENST00000256497	D	0.83755	-1.76	5.25	5.25	0.73442	.	0.097082	0.64402	D	0.000002	T	0.80649	0.4663	L	0.56769	1.78	0.80722	D	1	D	0.61697	0.99	B	0.43575	0.424	T	0.83158	-0.0100	10	0.66056	D	0.02	-13.5861	12.0944	0.53747	0.2923:0.7077:0.0:0.0	.	631	Q92611	EDEM1_HUMAN	C	631	ENSP00000256497:R631C	ENSP00000256497:R631C	R	+	1	0	EDEM1	5232520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.814000	0.48010	2.449000	0.82847	0.655000	0.94253	CGT		0.443	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		66	298	0	0	0	1	0	66	298				
LARP1	23367	broad.mit.edu	37	5	154172210	154172210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154172210G>A	ENST00000336314.4	+	4	386	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	198					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCCTACCCGTAAACTGCCA	0.498																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(361-363)cGt>cAt		La ribonucleoprotein domain family, member 1							195.0	183.0	187.0					5																	154172210		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154172210G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.362G>A	5.37:g.154172210G>A	ENSP00000336721:p.Arg121His						p.R121H	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	386	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	198					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.362G>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629404	0.87660	.	.	ENSG00000155506	ENST00000336314;ENST00000518297	T;T	0.44083	1.87;0.93	5.93	5.06	0.68205	.	0.112447	0.64402	D	0.000012	T	0.54287	0.1849	L	0.41492	1.28	0.44956	D	0.997972	D;D	0.76494	0.997;0.999	P;D	0.66716	0.607;0.946	T	0.55921	-0.8064	10	0.54805	T	0.06	-8.0234	14.8626	0.70392	0.0686:0.0:0.9314:0.0	.	198;121	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	H	121;198	ENSP00000336721:R121H;ENSP00000428589:R198H	ENSP00000336721:R121H	R	+	2	0	LARP1	154152403	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.070000	0.76763	1.497000	0.48584	0.655000	0.94253	CGT		0.498	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		133	603	0	0	0	1	0	133	603				
CACNG5	27091	broad.mit.edu	37	17	64880810	64880810	+	Intron	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64880810T>C	ENST00000533854.1	+	5	807				CACNG5_ENST00000169565.3_Missense_Mutation_p.L201P|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATGGATAGGCTGGGCCTGGGC	0.572																																						ENST00000169565.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(601-603)cTg>cCg		calcium channel, voltage-dependent, gamma subunit 5							84.0	80.0	81.0					17																	64880810		2203	4300	6503	SO:0001627	intron_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64880810T>C	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.570+32T>C	17.37:g.64880810T>C						CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron	p.L201P			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	602	+			0	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.602T>C	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460820	0.26248	.	.	ENSG00000075429	ENST00000169565	T	0.52057	0.68	2.11	-0.636	0.11508	.	0.400736	0.22939	U	0.053801	T	0.29093	0.0723	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.12142	-1.0559	6	.	.	.	.	2.7663	0.05321	0.0:0.1712:0.2674:0.5613	.	.	.	.	P	201	ENSP00000169565:L201P	.	L	+	2	0	CACNG5	62311272	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	-2.058000	0.01394	-0.192000	0.10432	0.496000	0.49642	CTG		0.572	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		14	412	0	0	0	1	0	14	412				
FGFR2	2263	broad.mit.edu	37	10	123256162	123256162	+	Missense_Mutation	SNP	C	C	T	rs138712692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123256162C>T	ENST00000358487.5	-	13	2019	c.1747G>A	c.(1747-1749)Ggg>Agg	p.G583R	FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G584R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TACTCCATCCCGGGTGGCCTC	0.537		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(1747-1749)Ggg>Agg		fibroblast growth factor receptor 2	Palifermin(DB00039)	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	151.0	148.0	149.0		1747,1750,1411,1480,1402,1399,1396,1483,1750	5.3	0.9	10	dbSNP_134	149	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	125,125,125,125,125,125,125,125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	583/822,584/770,471/710,494/708,468/707,467/706,466/705,495/681,584/823	123256162	1,13005	2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123256162C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1747G>A	10.37:g.123256162C>T	ENSP00000351276:p.Gly583Arg					FGFR2_ENST00000369056.1_Missense_Mutation_p.G584R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R	p.G583R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	13	2019	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	583			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1747G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338989	0.81911	2.27E-4	0.0	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047777	0.85682	D	0.000000	D	0.92163	0.7515	N	0.21142	0.635	0.80722	D	1	P;P;D;D;D;P;D;D	0.89917	0.678;0.791;0.991;1.0;0.996;0.566;0.984;1.0	B;B;B;D;P;B;B;D	0.77004	0.205;0.13;0.325;0.963;0.609;0.081;0.379;0.989	D	0.93595	0.6925	10	0.87932	D	0	.	18.9702	0.92712	0.0:1.0:0.0:0.0	.	600;582;494;466;583;495;584;486	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	R	494;584;471;583;466;467;469;175;581;584;581;495;584;584;492	ENSP00000350166:G494R;ENSP00000358057:G471R;ENSP00000351276:G583R;ENSP00000348559:G466R;ENSP00000358056:G467R;ENSP00000358055:G469R;ENSP00000404219:G175R;ENSP00000263451:G581R;ENSP00000410294:G584R;ENSP00000309878:G581R;ENSP00000353262:G495R;ENSP00000358052:G584R;ENSP00000358054:G584R;ENSP00000337665:G492R	ENSP00000337665:G492R	G	-	1	0	FGFR2	123246152	1.000000	0.71417	0.926000	0.36857	0.880000	0.50808	7.722000	0.84778	2.464000	0.83262	0.549000	0.68633	GGG		0.537	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		36	930	0	0	0	1	0	36	930				
NPAS2	4862	broad.mit.edu	37	2	101584767	101584767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101584767C>T	ENST00000335681.5	+	11	1217	c.932C>T	c.(931-933)tCg>tTg	p.S311L	NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	311	PAC.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGGGAAGTCGTGTTGCTAC	0.443																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)tCg>tTg		neuronal PAS domain protein 2							166.0	151.0	156.0					2																	101584767		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101584767C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.932C>T	2.37:g.101584767C>T	ENSP00000338283:p.Ser311Leu					NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	p.S311L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			11	1217	+			311			PAC.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.932C>T	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599798	0.96614	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.24538	1.85;1.85	5.76	5.76	0.90799	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45716	-0.9242	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	376;311	F5H027;Q99743	.;NPAS2_HUMAN	L	311;376	ENSP00000338283:S311L;ENSP00000438428:S376L	ENSP00000338283:S311L	S	+	2	0	NPAS2	100951199	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.886000	0.69743	2.882000	0.98803	0.655000	0.94253	TCG		0.443	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			96	422	0	0	0	1	0	96	422				
TPTE	7179	broad.mit.edu	37	21	10973777	10973777	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10973777C>A	ENST00000361285.4	-	4	287		c.e4-1		TPTE_ENST00000298232.7_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGGGTGGACTAGAGGATGT	0.363																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e4-1		transmembrane phosphatase with tensin homology							109.0	122.0	118.0					21																	10973777		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10973777C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.43-1G>T	21.37:g.10973777C>A						TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000361285.4_Splice_Site		NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	325	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37		CCDS13560.2																																																																																				0.363	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	19	294	1	0	3.8784e-16	1	4.25319e-16	19	294				
CHD6	84181	broad.mit.edu	37	20	40068746	40068746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40068746G>A	ENST00000373233.3	-	26	4078	c.3901C>T	c.(3901-3903)Cga>Tga	p.R1301*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1301					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGTCTGCTCGCATGGCATTG	0.463																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3901-3903)Cga>Tga		chromodomain helicase DNA binding protein 6							113.0	103.0	106.0					20																	40068746		2203	4300	6503	SO:0001587	stop_gained	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40068746G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3901C>T	20.37:g.40068746G>A	ENSP00000362330:p.Arg1301*					CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	p.R1301*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			26	4078	-		Myeloproliferative disorder(115;0.00425)	1301					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.3901C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	44	10.586576	0.99432	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	.	.	.	5.74	2.59	0.31030	.	0.000000	0.45606	D	0.000357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9327	14.8072	0.69965	0.0:0.0:0.6242:0.3758	.	.	.	.	X	1301;784	.	ENSP00000308684:R784X	R	-	1	2	CHD6	39502160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.412000	0.52679	0.757000	0.33036	0.563000	0.77884	CGA		0.463	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			66	244	0	0	0	1	0	66	244				
KIF23	9493	broad.mit.edu	37	15	69730728	69730728	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69730728A>C	ENST00000260363.4	+	15	1814	c.1697A>C	c.(1696-1698)aAa>aCa	p.K566T	KIF23_ENST00000395392.2_Missense_Mutation_p.K566T|KIF23_ENST00000537891.1_Missense_Mutation_p.K383T|KIF23_ENST00000559279.1_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000352331.4_Missense_Mutation_p.K566T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	566					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAGAAAAACAAAACTTTAGAA	0.353																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(1696-1698)aAa>aCa		kinesin family member 23							60.0	64.0	63.0					15																	69730728		2199	4297	6496	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69730728A>C	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1697A>C	15.37:g.69730728A>C	ENSP00000260363:p.Lys566Thr					KIF23_ENST00000395392.2_Missense_Mutation_p.K566T|KIF23_ENST00000559279.1_Missense_Mutation_p.K566T|KIF23_ENST00000352331.4_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000537891.1_Missense_Mutation_p.K383T	p.K566T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			15	1814	+			566					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1697A>C	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282333	0.80692	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.55	4.43	0.53597	.	0.087928	0.85682	D	0.000000	T	0.66694	0.2815	L	0.38175	1.15	0.58432	D	0.999995	P;D;D	0.71674	0.945;0.998;0.986	P;D;P	0.70487	0.493;0.969;0.835	T	0.62374	-0.6868	10	0.29301	T	0.29	.	10.2854	0.43564	0.9233:0.0:0.0767:0.0	.	383;566;566	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	566;566;566;383	ENSP00000260363:K566T;ENSP00000304978:K566T;ENSP00000378790:K566T;ENSP00000442969:K383T	ENSP00000260363:K566T	K	+	2	0	KIF23	67517782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.841000	0.75374	0.950000	0.37743	0.528000	0.53228	AAA		0.353	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	252	0	0	0	1	0	10	252				
INTU	27152	broad.mit.edu	37	4	128632105	128632105	+	Missense_Mutation	SNP	G	G	T	rs371347616		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128632105G>T	ENST00000335251.6	+	14	2510	c.2407G>T	c.(2407-2409)Gtt>Ttt	p.V803F		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	803					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTTCCACTACGTTGCCTTAGA	0.353																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(2407-2409)Gtt>Ttt		inturned planar cell polarity protein							111.0	103.0	106.0					4																	128632105		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128632105G>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2407G>T	4.37:g.128632105G>T	ENSP00000334003:p.Val803Phe						p.V803F	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			14	2510	+			803					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2407G>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338805	0.60963	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.54	4.68	0.58851	.	0.147144	0.45606	D	0.000357	T	0.68805	0.3041	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	T	0.71388	-0.4608	9	0.72032	D	0.01	-11.6227	4.8369	0.13469	0.0767:0.3001:0.4844:0.1389	.	803	Q9ULD6	PDZD6_HUMAN	F	803	.	ENSP00000334003:V803F	V	+	1	0	INTU	128851555	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	2.508000	0.45450	1.534000	0.49203	0.650000	0.86243	GTT		0.353	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		83	277	1	0	2.05912e-35	1	2.45818e-35	83	277				
MAP7D1	55700	broad.mit.edu	37	1	36642393	36642393	+	Silent	SNP	G	G	A	rs201024870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642393G>A	ENST00000373151.2	+	8	1545	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	MAP7D1_ENST00000373150.4_Silent_p.L411L|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Silent_p.L406L|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	443					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTCGCTGCCCGCCTCCC	0.657																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1216-1218)ctG>ctA		MAP7 domain containing 1							26.0	36.0	33.0					1																	36642393		2187	4280	6467	SO:0001819	synonymous_variant	55700					cytoplasm|spindle		g.chr1:36642393G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1329G>A	1.37:g.36642393G>A						MAP7D1_ENST00000373150.4_Silent_p.L411L|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Silent_p.L443L	p.L406L			Q3KQU3	MA7D1_HUMAN			7	1671	+		Myeloproliferative disorder(586;0.0393)	443					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	c.1218G>A	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033468	0.19590	.	.	ENSG00000116871	ENST00000530975	.	.	.	5.04	-0.339	0.12647	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	-14.0724	5.145	0.14979	0.241:0.2783:0.4807:0.0	.	.	.	.	T	26	.	.	A	+	1	0	MAP7D1	36414980	0.997000	0.39634	0.940000	0.37924	0.584000	0.36387	0.232000	0.17891	-0.243000	0.09653	-0.254000	0.11334	GCC		0.657	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		7	54	0	0	0	1	0	7	54				
DOT1L	84444	broad.mit.edu	37	19	2226809	2226809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226809C>T	ENST00000398665.3	+	27	4325	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1430					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCATCTCTGCGGCGGCCGTG	0.746																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(4288-4290)gCg>gTg		DOT1-like histone H3K79 methyltransferase							13.0	20.0	18.0					19																	2226809		1897	4090	5987	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226809C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4289C>T	19.37:g.2226809C>T	ENSP00000381657:p.Ala1430Val						p.A1430V	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4325	+		Hepatocellular(1079;0.137)	1430					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.4289C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188769	0.57909	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.41400	1.41;1.0	4.42	4.42	0.53409	.	0.000000	0.49305	D	0.000148	T	0.61800	0.2376	M	0.64997	1.995	0.31257	N	0.693341	D;D	0.89917	1.0;0.999	D;D	0.78314	0.962;0.991	T	0.68530	-0.5384	10	0.87932	D	0	-12.0797	16.0032	0.80310	0.0:1.0:0.0:0.0	.	1430;1430	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	V	1430;1430;310	ENSP00000381657:A1430V;ENSP00000407411:A310V	ENSP00000221482:A1430V	A	+	2	0	DOT1L	2177809	0.999000	0.42202	0.626000	0.29213	0.026000	0.11368	6.321000	0.72881	2.003000	0.58678	0.561000	0.74099	GCG		0.746	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		43	191	0	0	0	1	0	43	191				
NCR3	259197	broad.mit.edu	37	6	31555449	31555449	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31555449C>T	ENST00000340027.5	-	0	1042				LST1_ENST00000376110.3_Intron|LST1_ENST00000376111.4_5'UTR|LST1_ENST00000396101.3_Silent_p.G17G|LST1_ENST00000376102.3_Missense_Mutation_p.A12V|LST1_ENST00000339530.4_Silent_p.G17G|LST1_ENST00000418507.2_Intron|NCR3_ENST00000491161.1_5'Flank|LST1_ENST00000376089.2_Intron|LST1_ENST00000376099.1_Intron|LST1_ENST00000303757.8_Silent_p.G17G|LST1_ENST00000376086.3_Intron|LST1_ENST00000376090.2_Intron|LST1_ENST00000376092.3_Intron|LST1_ENST00000376100.3_Intron|LST1_ENST00000376093.2_Silent_p.G17G|LST1_ENST00000211921.7_Intron|LST1_ENST00000376096.1_Intron|LST1_ENST00000438075.2_Silent_p.G17G|LST1_ENST00000419073.1_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3						cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						TGGGGCTGGGCGGGCTCCTGC	0.622																																						ENST00000376102.3																			0				large_intestine(1)	1						c.(34-36)gCg>gTg		leukocyte specific transcript 1							12.0	14.0	13.0					6																	31555449		1970	4129	6099	SO:0001628	intergenic_variant	7940				cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding	g.chr6:31555449C>T	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	protein-coding gene	gene with protein product		611550	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123		6.37:g.31555449C>T						LST1_ENST00000376111.4_5'UTR|LST1_ENST00000438075.2_Silent_p.G17G|LST1_ENST00000376099.1_Intron|LST1_ENST00000376093.2_Silent_p.G17G|LST1_ENST00000376096.1_Intron|LST1_ENST00000339530.4_Silent_p.G17G|LST1_ENST00000303757.8_Silent_p.G17G|LST1_ENST00000211921.7_Intron|LST1_ENST00000376100.3_Intron|LST1_ENST00000396101.3_Silent_p.G17G|LST1_ENST00000376089.2_Intron|LST1_ENST00000376092.3_Intron|LST1_ENST00000376086.3_Intron|LST1_ENST00000419073.1_3'UTR|LST1_ENST00000376090.2_Intron|LST1_ENST00000376110.3_Intron|LST1_ENST00000418507.2_Intron	p.A12V			O00453	LST1_HUMAN			2	151	+			0					B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Missense_Mutation	SNP	ENST00000340027.5	37	c.35C>T	CCDS34397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.45|15.45	2.836292|2.836292	0.50951|0.50951	.|.	.|.	ENSG00000204482|ENSG00000204482	ENST00000376102;ENST00000490742|ENST00000464044	.|.	.|.	.|.	4.47|4.47	-6.2|-6.2	0.02072|0.02072	.|.	.|.	.|.	.|.	.|.	T|T	0.05547|0.05547	0.0146|0.0146	.|.	.|.	.|.	0.19575|0.19575	N|N	0.999963|0.999963	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26573|0.26573	-1.0099|-1.0099	5|4	0.49607|.	T|.	0.09|.	-1.2514|-1.2514	2.0882|2.0882	0.03650|0.03650	0.4647:0.2332:0.1878:0.1142|0.4647:0.2332:0.1878:0.1142	.|.	.|.	.|.	.|.	V|W	12|2	.|.	ENSP00000365270:A12V|.	A|R	+|+	2|1	0|2	LST1|LST1	31663428|31663428	0.361000|0.361000	0.24972|0.24972	0.007000|0.007000	0.13788|0.13788	0.025000|0.025000	0.11179|0.11179	-1.107000|-1.107000	0.03316|0.03316	-1.669000|-1.669000	0.01470|0.01470	-2.070000|-2.070000	0.00385|0.00385	GCG|CGG		0.622	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			9	35	0	0	0	1	0	9	35				
ABCA2	20	broad.mit.edu	37	9	139911650	139911650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139911650C>T	ENST00000371605.3	-	17	2695	c.2548G>A	c.(2548-2550)Gcg>Acg	p.A850T	ABCA2_ENST00000265662.5_Missense_Mutation_p.A851T|ABCA2_ENST00000341511.6_Missense_Mutation_p.A851T|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	850					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCCTCACCGCGATGCACTTC	0.637																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2551-2553)Gcg>Acg		ATP-binding cassette, sub-family A (ABC1), member 2							48.0	56.0	53.0					9																	139911650		2136	4235	6371	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139911650C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2548G>A	9.37:g.139911650C>T	ENSP00000360666:p.Ala850Thr					ABCA2_ENST00000341511.6_Missense_Mutation_p.A851T|ABCA2_ENST00000371605.3_Missense_Mutation_p.A850T	p.A851T			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	18	2698	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	850					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2551G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.575579	0.86645	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.84873	-1.91;-1.91;-1.91	4.08	4.08	0.47627	.	0.198498	0.42821	U	0.000653	D	0.90157	0.6924	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.81914	0.995;0.881	D	0.91129	0.4936	10	0.59425	D	0.04	.	16.451	0.83990	0.0:1.0:0.0:0.0	.	850;881	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	T	851;850;881;851	ENSP00000265662:A851T;ENSP00000360666:A850T;ENSP00000344155:A851T	ENSP00000265662:A851T	A	-	1	0	ABCA2	139031471	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	7.530000	0.81962	2.116000	0.64780	0.313000	0.20887	GCG		0.637	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		74	363	0	0	0	1	0	74	363				
CEP152	22995	broad.mit.edu	37	15	49054658	49054658	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49054658G>T	ENST00000380950.2	-	18	2679	c.2492C>A	c.(2491-2493)gCc>gAc	p.A831D	CEP152_ENST00000325747.5_Missense_Mutation_p.A738D|CEP152_ENST00000399334.3_Missense_Mutation_p.A831D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	831					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCCCTTGATGGCTATGTCCTT	0.358																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2491-2493)gCc>gAc		centrosomal protein 152kDa							166.0	152.0	156.0					15																	49054658		1846	4087	5933	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49054658G>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2492C>A	15.37:g.49054658G>T	ENSP00000370337:p.Ala831Asp					CEP152_ENST00000325747.5_Missense_Mutation_p.A738D|CEP152_ENST00000399334.3_Missense_Mutation_p.A831D	p.A831D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	18	2679	-		all_lung(180;0.0428)	831					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2492C>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256788	0.39896	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.69806	-0.43;-0.39;-0.36	5.18	4.27	0.50696	.	0.173091	0.50627	D	0.000120	T	0.77903	0.4200	M	0.71581	2.175	0.09310	N	0.999998	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.71414	0.973;0.858;0.907	T	0.68655	-0.5351	10	0.48119	T	0.1	-2.873	10.953	0.47341	0.0867:0.0:0.9133:0.0	.	738;831;831	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	831;738;831	ENSP00000370337:A831D;ENSP00000321000:A738D;ENSP00000382271:A831D	ENSP00000321000:A738D	A	-	2	0	CEP152	46841950	0.008000	0.16893	0.008000	0.14137	0.349000	0.29174	1.461000	0.35255	1.562000	0.49601	0.650000	0.86243	GCC		0.358	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		93	410	1	0	7.43734e-37	1	8.91631e-37	93	410				
PLXNB2	23654	broad.mit.edu	37	22	50728054	50728054	+	Silent	SNP	G	G	A	rs369685421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728054G>A	ENST00000449103.1	-	3	1100	c.960C>T	c.(958-960)caC>caT	p.H320H	PLXNB2_ENST00000359337.4_Silent_p.H320H			O15031	PLXB2_HUMAN	plexin B2	320	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATCTTGGCGTGCACCTTGT	0.652																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(958-960)caC>caT		plexin B2		G		0,3920		0,0,1960	43.0	52.0	49.0		960	-3.8	0.0	22		49	2,8322		0,2,4160	no	coding-synonymous	PLXNB2	NM_012401.3		0,2,6120	AA,AG,GG		0.024,0.0,0.0163		320/1839	50728054	2,12242	1960	4162	6122	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728054G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.960C>T	22.37:g.50728054G>A						PLXNB2_ENST00000359337.4_Silent_p.H320H	p.H320H			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1100	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	320			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.960C>T	CCDS43035.1																																																																																				0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		78	355	0	0	0	1	0	78	355				
IL23R	149233	broad.mit.edu	37	1	67705865	67705865	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67705865A>G	ENST00000347310.5	+	9	1220	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	IL23R_ENST00000473881.1_Intron|AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000371002.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	350					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCATTAGACAACAGAGGAGAC	0.343																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1048-1050)aAc>aGc		interleukin 23 receptor							182.0	166.0	171.0					1																	67705865		2203	4299	6502	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67705865A>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1049A>G	1.37:g.67705865A>G	ENSP00000321345:p.Asn350Ser					IL23R_ENST00000371002.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S|IL23R_ENST00000473881.1_Intron	p.N350S	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			9	1220	+			350					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.1049A>G	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.206588|2.206588	0.39003|0.39003	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.37915|.	1.17;1.29|.	5.19|5.19	1.56|1.56	0.23342|0.23342	.|.	1.218930|.	0.05371|.	N|.	0.535435|.	T|T	0.25531|0.25531	0.0621|0.0621	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B;B;B;B;P;P;B;P|.	0.38504|.	0.091;0.037;0.091;0.037;0.005;0.634;0.571;0.091;0.571|.	B;B;B;B;B;B;B;B;B|.	0.33392|.	0.027;0.012;0.027;0.018;0.003;0.124;0.163;0.027;0.121|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.22706|.	T|.	0.39|.	-18.5664|-18.5664	6.9466|6.9466	0.24522|0.24522	0.7309:0.0:0.2691:0.0|0.7309:0.0:0.2691:0.0	.|.	96;174;174;108;179;204;257;95;350|.	Q5VWK5-2;B6HY71;B6HY89;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;.;.;IL23R_HUMAN|.	S|A	350;179;108;95|112	ENSP00000321345:N350S;ENSP00000378652:N95S|.	ENSP00000321345:N350S|.	N|T	+|+	2|1	0|0	IL23R|IL23R	67478453|67478453	0.011000|0.011000	0.17503|0.17503	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	1.051000|1.051000	0.30417|0.30417	0.164000|0.164000	0.19529|0.19529	-0.256000|-0.256000	0.11100|0.11100	AAC|ACA		0.343	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		19	216	0	0	0	1	0	19	216				
COL2A1	1280	broad.mit.edu	37	12	48371104	48371104	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48371104G>A	ENST00000380518.3	-	46	3436	c.3272C>T	c.(3271-3273)gCt>gTt	p.A1091V	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.A1022V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1091	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATACTTACAGCTTCTCCTCT	0.632																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.e46+1		collagen, type II, alpha 1	Collagenase(DB00048)						71.0	83.0	79.0					12																	48371104		2203	4300	6503	SO:0001630	splice_region_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48371104G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3273+1C>T	12.37:g.48371104G>A						COL2A1_ENST00000337299.6_Splice_Site_p.A1022_splice|COL2A1_ENST00000493991.1_5'UTR	p.A1091_splice	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			46	3436	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1091			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Splice_Site	SNP	ENST00000380518.3	37	c.3273_splice	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471800	0.63737	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93488	-3.23;-3.23	5.15	5.15	0.70609	.	0.660669	0.14187	N	0.335623	D	0.90676	0.7075	L	0.38838	1.175	0.33794	D	0.62586	B;B	0.25609	0.13;0.079	B;B	0.21546	0.035;0.015	D	0.90927	0.4787	10	0.62326	D	0.03	.	18.2304	0.89933	0.0:0.0:1.0:0.0	.	1022;1091	P02458-1;P02458	.;CO2A1_HUMAN	V	1091;1022;1022	ENSP00000369889:A1091V;ENSP00000338213:A1022V	ENSP00000338213:A1022V	A	-	2	0	COL2A1	46657371	0.974000	0.33945	1.000000	0.80357	0.940000	0.58332	5.290000	0.65661	2.401000	0.81631	0.563000	0.77884	GCT		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	Missense_Mutation	9	403	0	0	0	1	0	9	403				
SDCCAG8	10806	broad.mit.edu	37	1	243434319	243434319	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243434319A>C	ENST00000366541.3	+	3	378	c.260A>C	c.(259-261)aAg>aCg	p.K87T	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	87					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAAGCAGATAAGGAAAGTGAA	0.383																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(259-261)aAg>aCg		serologically defined colon cancer antigen 8							133.0	122.0	126.0					1																	243434319		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243434319A>C	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.260A>C	1.37:g.243434319A>C	ENSP00000355499:p.Lys87Thr					SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T	p.K87T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	3	378	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	87					O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.260A>C	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199679	0.58126	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	T;T	0.48522	0.81;0.84	5.52	3.16	0.36331	.	0.346316	0.33161	N	0.005209	T	0.38054	0.1026	L	0.60455	1.87	0.58432	D	0.999999	B	0.20052	0.041	B	0.19946	0.027	T	0.11108	-1.0601	10	0.15499	T	0.54	-7.9406	6.9153	0.24357	0.7718:0.1498:0.0785:0.0	.	87	Q86SQ7	SDCG8_HUMAN	T	87	ENSP00000348137:K87T;ENSP00000355499:K87T	ENSP00000348137:K87T	K	+	2	0	SDCCAG8	241500942	0.805000	0.28982	0.437000	0.26809	0.822000	0.46500	1.372000	0.34261	0.443000	0.26582	0.533000	0.62120	AAG		0.383	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		84	268	0	0	0	1	0	84	268				
SAMD9	54809	broad.mit.edu	37	7	92735170	92735170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735170C>T	ENST00000379958.2	-	3	510	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	81						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATCGAATCTTCAATGGCT	0.373																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(241-243)Gat>Aat		sterile alpha motif domain containing 9							162.0	160.0	161.0					7																	92735170		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92735170C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.241G>A	7.37:g.92735170C>T	ENSP00000369292:p.Asp81Asn						p.D81N	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	510	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		81					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.241G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164680	0.06502	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.22336	1.96;2.77	4.6	-1.92	0.07618	.	1.084970	0.07229	N	0.862159	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	10	0.09338	T	0.73	.	6.1642	0.20380	0.1447:0.2554:0.0:0.5999	.	81	Q5K651	SAMD9_HUMAN	N	81	ENSP00000369292:D81N;ENSP00000414529:D81N	ENSP00000369292:D81N	D	-	1	0	SAMD9	92573106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	-0.177000	0.10690	-0.924000	0.02725	GAT		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		146	574	0	0	0	1	0	146	574				
NYNRIN	57523	broad.mit.edu	37	14	24878150	24878150	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24878150T>A	ENST00000382554.3	+	4	1468	c.1150T>A	c.(1150-1152)Tcc>Acc	p.S384T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	384					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGCTCCTGTCCCAGGCGTG	0.577																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1150-1152)Tcc>Acc		NYN domain and retroviral integrase containing							32.0	32.0	32.0					14																	24878150		1911	4119	6030	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878150T>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1150T>A	14.37:g.24878150T>A	ENSP00000371994:p.Ser384Thr						p.S384T	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	1468	+			384					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1150T>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961623	0.74016	.	.	ENSG00000205978	ENST00000382554	T	0.12147	2.71	5.36	4.21	0.49690	.	1.265810	0.05502	N	0.558597	T	0.18551	0.0445	L	0.27053	0.805	0.23758	N	0.996923	D	0.55172	0.97	P	0.51833	0.681	T	0.23190	-1.0195	10	0.87932	D	0	.	8.6955	0.34293	0.0:0.0:0.2085:0.7915	.	384	Q9P2P1	NYNRI_HUMAN	T	384	ENSP00000371994:S384T	ENSP00000371994:S384T	S	+	1	0	NYNRIN	23947990	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.587000	0.36622	2.246000	0.74042	0.533000	0.62120	TCC		0.577	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			17	147	0	0	0	1	0	17	147				
PNLDC1	154197	broad.mit.edu	37	6	160240289	160240289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160240289G>A	ENST00000610273.1	+	18	1575	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	PNLDC1_ENST00000392167.3_Silent_p.A479A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	468						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGGCAGTGCGCGGAACATCC	0.597																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1402-1404)gcG>gcA		poly(A)-specific ribonuclease (PARN)-like domain containing 1							97.0	74.0	82.0					6																	160240289		2203	4300	6503	SO:0001819	synonymous_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240289G>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1404G>A	6.37:g.160240289G>A						PNLDC1_ENST00000392167.3_Silent_p.A479A	p.A468A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	18	1575	+		Breast(66;0.00519)|Ovarian(120;0.123)	468					Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	37	c.1404G>A	CCDS5271.1																																																																																				0.597	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		8	221	0	0	0	1	0	8	221				
FBXL12	54850	broad.mit.edu	37	19	9921948	9921948	+	Missense_Mutation	SNP	C	C	A	rs142733350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9921948C>A	ENST00000247977.4	-	3	846	c.605G>T	c.(604-606)aGc>aTc	p.S202I	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	202					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CTGCAGATAGCTGAGCTCCTG	0.667																																						ENST00000247977.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(604-606)aGc>aTc		F-box and leucine-rich repeat protein 12							32.0	31.0	32.0					19																	9921948		2200	4292	6492	SO:0001583	missense	54850						protein binding	g.chr19:9921948C>A	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.605G>T	19.37:g.9921948C>A	ENSP00000247977:p.Ser202Ile					FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I	p.S202I	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN			3	846	-			202					B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.605G>T	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067447	0.36470	.	.	ENSG00000127452	ENST00000247977	T	0.18174	2.23	5.0	1.69	0.24217	.	0.694941	0.14622	N	0.308337	T	0.07234	0.0183	N	0.08118	0	0.32275	N	0.568401	B	0.32693	0.38	B	0.31869	0.137	T	0.34502	-0.9826	9	.	.	.	.	6.1812	0.20472	0.0:0.668:0.0:0.332	.	202	Q9NXK8	FXL12_HUMAN	I	202	ENSP00000247977:S202I	.	S	-	2	0	FBXL12	9782948	0.867000	0.29959	0.915000	0.36163	0.768000	0.43524	0.358000	0.20216	0.259000	0.21709	-0.136000	0.14681	AGC		0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703		73	255	1	0	5.44642e-36	1	6.51243e-36	73	255				
DNAJC21	134218	broad.mit.edu	37	5	34949740	34949740	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34949740G>A	ENST00000342382.4	+	10	1412				DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000512136.1_Intron|DNAJC21_ENST00000382021.2_Silent_p.E426E			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			gagatggagagagcgagcaca	0.438																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1276-1278)gaG>gaA		DnaJ (Hsp40) homolog, subfamily C, member 21							90.0	86.0	87.0					5																	34949740		2203	4300	6503	SO:0001627	intron_variant	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34949740G>A		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1186-535G>A	5.37:g.34949740G>A						DNAJC21_ENST00000342382.4_Intron|DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000512136.1_Intron	p.E426E	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1505	+	all_lung(31;7.08e-05)		395					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Silent	SNP	ENST00000342382.4	37	c.1278G>A	CCDS34144.1																																																																																				0.438	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		12	92	0	0	0	1	0	12	92				
GPR87	53836	broad.mit.edu	37	3	151012762	151012762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151012762G>A	ENST00000260843.4	-	3	736	c.272C>T	c.(271-273)aCg>aTg	p.T91M	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	91					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGTCAGCGTCATTATGAG	0.378																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(271-273)aCg>aTg		G protein-coupled receptor 87							139.0	138.0	138.0					3																	151012762		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012762G>A	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.272C>T	3.37:g.151012762G>A	ENSP00000260843:p.Thr91Met					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.T91M	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	736	-			91					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.272C>T	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257065	0.39896	.	.	ENSG00000138271	ENST00000260843	T	0.34072	1.38	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.138939	0.49916	D	0.000124	T	0.49150	0.1540	L	0.39020	1.185	0.44373	D	0.997276	D	0.76494	0.999	D	0.68943	0.961	T	0.48768	-0.9006	10	0.87932	D	0	-9.5583	14.5601	0.68130	0.0726:0.0:0.9274:0.0	.	91	Q9BY21	GPR87_HUMAN	M	91	ENSP00000260843:T91M	ENSP00000260843:T91M	T	-	2	0	GPR87	152495452	1.000000	0.71417	0.952000	0.39060	0.331000	0.28603	6.273000	0.72581	2.632000	0.89209	0.655000	0.94253	ACG		0.378	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			67	292	0	0	0	1	0	67	292				
PHF3	23469	broad.mit.edu	37	6	64422753	64422753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64422753G>T	ENST00000262043.3	+	16	5609	c.5269G>T	c.(5269-5271)Gga>Tga	p.G1757*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*			Q92576	PHF3_HUMAN	PHD finger protein 3	1757					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTTCGAAGAGGATCAGCAGT	0.403																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(5269-5271)Gga>Tga		PHD finger protein 3							98.0	96.0	97.0					6																	64422753		2203	4300	6503	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422753G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5269G>T	6.37:g.64422753G>T	ENSP00000262043:p.Gly1757*					PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*	p.G1757*			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5609	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1757					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.5269G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	43	10.083548	0.99332	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	.	.	.	5.97	5.97	0.96955	.	0.000000	0.38663	N	0.001604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.7549	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	1757	.	.	G	+	1	0	PHF3	64480712	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	6.716000	0.74702	2.836000	0.97738	0.655000	0.94253	GGA		0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			90	461	1	0	5.86298e-51	1	7.2719e-51	90	461				
MYH11	4629	broad.mit.edu	37	16	15814797	15814797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15814797G>A	ENST00000300036.5	-	33	4799	c.4690C>T	c.(4690-4692)Cgg>Tgg	p.R1564W	MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|MYH11_ENST00000452625.2_Missense_Mutation_p.R1571W|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.R1564W	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1564					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTTCCAGCCGCAGTTTGGCG	0.602			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4690-4692)Cgg>Tgg		myosin, heavy chain 11, smooth muscle							110.0	101.0	104.0					16																	15814797		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814797G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4690C>T	16.37:g.15814797G>A	ENSP00000300036:p.Arg1564Trp					MYH11_ENST00000300036.5_Missense_Mutation_p.R1564W|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.R1571W|MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|MYH11_ENST00000576790.1_Missense_Mutation_p.R1564W	p.R1564W	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			33	4796	-			1564					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4690C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946232	0.73672	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.97	2.73	0.32206	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.94435	0.7653	10	0.87932	D	0	.	12.135	0.53966	0.0:0.0:0.5351:0.4649	.	1571;1564;1571;1564;1571	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	W	1564;1564;1571;1571;1571	ENSP00000300036:R1564W;ENSP00000345136:R1564W;ENSP00000379616:R1571W;ENSP00000407821:R1571W	ENSP00000300036:R1564W	R	-	1	2	MYH11	15722298	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.928000	0.40104	1.056000	0.40484	0.561000	0.74099	CGG		0.602	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		109	475	0	0	0	1	0	109	475				
BIRC6	57448	broad.mit.edu	37	2	32702455	32702455	+	Missense_Mutation	SNP	G	G	A	rs551174027	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32702455G>A	ENST00000421745.2	+	35	7006	c.6872G>A	c.(6871-6873)cGt>cAt	p.R2291H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2291					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTTAATTCGTTTACGTCGG	0.328													G|||	2	0.000399361	0.0	0.0	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.002				Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(6871-6873)cGt>cAt		baculoviral IAP repeat containing 6							120.0	117.0	118.0					2																	32702455		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32702455G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6872G>A	2.37:g.32702455G>A	ENSP00000393596:p.Arg2291His						p.R2291H	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			35	7006	+	Acute lymphoblastic leukemia(172;0.155)		2291					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6872G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	33	5.261329	0.95368	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.71	5.71	0.89125	.	0.139716	0.48767	D	0.000174	D	0.83533	0.5275	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.83807	0.0239	10	0.62326	D	0.03	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	2291	Q9NR09	BIRC6_HUMAN	H	2291	ENSP00000393596:R2291H	ENSP00000393596:R2291H	R	+	2	0	BIRC6	32555959	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.727000	0.98787	2.694000	0.91930	0.585000	0.79938	CGT		0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		116	346	0	0	0	1	0	116	346				
LILRA2	11027	broad.mit.edu	37	19	55086036	55086036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086036G>A	ENST00000251377.3	+	4	472	c.339G>A	c.(337-339)gaG>gaA	p.E113E	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E113E|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Silent_p.E101E			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	113	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCCCCTGGAGCTGGTGGTGA	0.607																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(337-339)gaG>gaA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							70.0	63.0	65.0					19																	55086036		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:55086036G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.339G>A	19.37:g.55086036G>A						LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.E101E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRA2_ENST00000391738.3_Silent_p.E113E	p.E113E						GBM - Glioblastoma multiforme(193;0.0963)	4	472	+								O75020	Silent	SNP	ENST00000251377.3	37	c.339G>A	CCDS46179.1																																																																																				0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			70	271	0	0	0	1	0	70	271				
GRB7	2886	broad.mit.edu	37	17	37899533	37899533	+	Silent	SNP	C	C	T	rs377657100		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899533C>T	ENST00000309156.4	+	5	821	c.564C>T	c.(562-564)taC>taT	p.Y188Y	GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000394209.2_Silent_p.Y188Y|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Silent_p.Y188Y|GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000309185.3_Silent_p.Y188Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	188					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGCCAAGTACGAACTGTTCA	0.607																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(562-564)taC>taT		growth factor receptor-bound protein 7		C	,,,	0,4406		0,0,2203	93.0	89.0	90.0		564,633,564,564	-10.1	0.3	17		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	188/533,211/556,188/533,188/533	37899533	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37899533C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.564C>T	17.37:g.37899533C>T						GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000394204.1_Silent_p.Y188Y|GRB7_ENST00000309185.3_Silent_p.Y188Y|GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000394209.2_Silent_p.Y188Y	p.Y188Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	821	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		188					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Silent	SNP	ENST00000309156.4	37	c.564C>T	CCDS11345.1																																																																																				0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		70	297	0	0	0	1	0	70	297				
FAM26D	221301	broad.mit.edu	37	6	116879157	116879157	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116879157T>C	ENST00000368596.3	+	2	772	c.728T>C	c.(727-729)cTc>cCc	p.L243P	FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P|FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	243					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TCTCGGCTCCTCATGATGCAT	0.493																																						ENST00000368596.3																			0				endometrium(1)|lung(5)	6						c.(727-729)cTc>cCc		family with sequence similarity 26, member D							115.0	112.0	113.0					6																	116879157		2203	4300	6503	SO:0001583	missense	221301					integral to membrane		g.chr6:116879157T>C	AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 78"""	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.728T>C	6.37:g.116879157T>C	ENSP00000357585:p.Leu243Pro					FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P|FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P	p.L243P			Q5JW98	FA26D_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)	2	772	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	243					B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	ENST00000368596.3	37	c.728T>C		.	.	.	.	.	.	.	.	.	.	T	15.27	2.784955	0.49997	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.99	5.99	0.97316	.	0.376324	0.22983	N	0.053285	T	0.32376	0.0827	M	0.83774	2.66	0.28482	N	0.914892	D;D	0.69078	0.997;0.988	D;P	0.63192	0.912;0.824	T	0.43032	-0.9416	10	0.59425	D	0.04	-0.0094	9.6239	0.39739	0.2437:0.0:0.0:0.7563	.	99;243	B4DTQ0;Q5JW98	.;FA26D_HUMAN	P	99;57;57;100;243	ENSP00000416976:L99P;ENSP00000357586:L57P;ENSP00000409556:L57P;ENSP00000385836:L100P;ENSP00000357585:L243P	ENSP00000357585:L243P	L	+	2	0	FAM26D	116985850	0.815000	0.29118	0.080000	0.20451	0.593000	0.36681	2.404000	0.44539	2.296000	0.77279	0.533000	0.62120	CTC		0.493	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1	NM_153036		52	510	0	0	0	1	0	52	510				
ADH1B	125	broad.mit.edu	37	4	100232703	100232703	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100232703G>A	ENST00000305046.8	-	7	1006	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ADH1B_ENST00000394887.3_Silent_p.R273R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	313					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CCTTCCAGGTGCGTCCAGTCA	0.438																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(937-939)cgC>cgT		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						173.0	170.0	171.0					4																	100232703		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232703G>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.939C>T	4.37:g.100232703G>A						ADH1B_ENST00000394887.3_Silent_p.R273R	p.R313R			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	7	1006	-			313					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.939C>T	CCDS34033.1																																																																																				0.438	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		166	686	0	0	0	1	0	166	686				
OR6A2	8590	broad.mit.edu	37	11	6816484	6816484	+	Silent	SNP	G	G	A	rs555709554	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816484G>A	ENST00000332601.3	-	1	644	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCCCAAGAGCCAGCAGCCA	0.498																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(454-456)ggC>ggT		olfactory receptor, family 6, subfamily A, member 2							72.0	71.0	71.0					11																	6816484		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816484G>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.456C>T	11.37:g.6816484G>A							p.G152G	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	644	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	152					Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.456C>T	CCDS7772.1																																																																																				0.498	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		17	273	0	0	0	1	0	17	273				
ZBTB11	27107	broad.mit.edu	37	3	101383834	101383834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101383834C>T	ENST00000312938.4	-	4	2177	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGGGAACGGCTTTCCGTTTC	0.408																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1597-1599)Gcc>Acc		zinc finger and BTB domain containing 11							154.0	150.0	152.0					3																	101383834		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383834C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1597G>A	3.37:g.101383834C>T	ENSP00000326200:p.Ala533Thr						p.A533T	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	2177	-			533					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.1597G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965285	0.34659	.	.	ENSG00000066422	ENST00000312938	T	0.11385	2.78	5.87	5.0	0.66597	.	0.316831	0.38663	N	0.001614	T	0.05914	0.0154	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.30078	T	0.28	-2.5424	7.5694	0.27898	0.0:0.7063:0.1389:0.1548	.	533	O95625	ZBT11_HUMAN	T	533	ENSP00000326200:A533T	ENSP00000326200:A533T	A	-	1	0	ZBTB11	102866524	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.273000	0.33121	1.496000	0.48567	0.655000	0.94253	GCC		0.408	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		136	550	0	0	0	1	0	136	550				
DOLK	22845	broad.mit.edu	37	9	131708326	131708326	+	Silent	SNP	G	G	T	rs138962748	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708326G>T	ENST00000372586.3	-	1	1572	c.1257C>A	c.(1255-1257)atC>atA	p.I419I	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGATCAGCCAGATGGGAAGAG	0.582																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1255-1257)atC>atA		dolichol kinase							90.0	91.0	90.0					9																	131708326		2203	4300	6503	SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708326G>T	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1257C>A	9.37:g.131708326G>T						RP11-101E3.5_ENST00000482796.1_Intron	p.I419I	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	1572	-			419					Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.1257C>A	CCDS6915.1																																																																																				0.582	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		14	384	1	0	0.000151284	1	0.000153739	14	384				
ACACB	32	broad.mit.edu	37	12	109637233	109637233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637233C>T	ENST00000338432.7	+	18	2773	c.2654C>T	c.(2653-2655)aCg>aTg	p.T885M	ACACB_ENST00000377854.5_Missense_Mutation_p.T885M|ACACB_ENST00000377848.3_Missense_Mutation_p.T885M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	885					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCAATAAGACGTGTGTGTTT	0.547																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2653-2655)aCg>aTg		acetyl-CoA carboxylase beta	Biotin(DB00121)						145.0	130.0	136.0					12																	109637233		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109637233C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2654C>T	12.37:g.109637233C>T	ENSP00000341044:p.Thr885Met					ACACB_ENST00000377848.3_Missense_Mutation_p.T885M|ACACB_ENST00000377854.5_Missense_Mutation_p.T885M	p.T885M			O00763	ACACB_HUMAN			18	2773	+			885					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2654C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311544	0.81358	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.96491	-4.03;-4.03;-3.97	5.42	4.53	0.55603	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.99198	1.0872	10	0.87932	D	0	.	14.2219	0.65833	0.0:0.9269:0.0:0.0731	.	885	O00763	ACACB_HUMAN	M	885;885;885;116	ENSP00000341044:T885M;ENSP00000367079:T885M;ENSP00000367085:T885M	ENSP00000341044:T885M	T	+	2	0	ACACB	108121616	1.000000	0.71417	0.888000	0.34837	0.877000	0.50540	5.958000	0.70330	1.418000	0.47098	0.585000	0.79938	ACG		0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		81	315	0	0	0	1	0	81	315				
ZNF568	374900	broad.mit.edu	37	19	37416155	37416155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37416155C>T	ENST00000333987.7	+	4	636	c.130C>T	c.(130-132)Cct>Tct	p.P44S	ZNF568_ENST00000455427.2_5'UTR|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAACCAGGCCTCTTGTACG	0.403																																						ENST00000333987.7																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(130-132)Cct>Tct		zinc finger protein 568							143.0	129.0	133.0					19																	37416155		1880	4109	5989	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37416155C>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.130C>T	19.37:g.37416155C>T	ENSP00000334685:p.Pro44Ser					ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_5'UTR	p.P44S	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	636	+	Esophageal squamous(110;0.183)		44					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.130C>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.131312	0.01756	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.00768	5.72;5.72;5.72	3.89	0.386	0.16254	Krueppel-associated box (1);	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56086	-0.8037	9	0.17369	T	0.5	.	5.9284	0.19124	0.0:0.3722:0.0:0.6278	.	44;44	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	S	44	ENSP00000407012:P44S;ENSP00000334685:P44S;ENSP00000389794:P44S	ENSP00000334685:P44S	P	+	1	0	ZNF568	42107995	0.704000	0.27836	0.699000	0.30290	0.796000	0.44982	0.298000	0.19120	0.022000	0.15160	-0.311000	0.09066	CCT		0.403	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		35	162	0	0	0	1	0	35	162				
SECISBP2	79048	broad.mit.edu	37	9	91972418	91972418	+	Missense_Mutation	SNP	C	C	T	rs554473793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91972418C>T	ENST00000375807.3	+	15	2277	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	736					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGCTCTGGGGCGCAGTTTGAA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20805	0.0		0.0	False		,,,				2504	0.0					ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(2206-2208)Cgc>Tgc		SECIS binding protein 2							200.0	187.0	191.0					9																	91972418		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91972418C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2206C>T	9.37:g.91972418C>T	ENSP00000364965:p.Arg736Cys					SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C	p.R736C	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			15	2277	+			736					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.2206C>T	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991652	0.93106	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.59906	0.23;0.23;0.23	4.68	4.68	0.58851	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056493	0.64402	D	0.000001	T	0.77948	0.4207	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.81531	-0.0890	10	0.87932	D	0	-12.9178	18.1344	0.89614	0.0:1.0:0.0:0.0	.	743;663;736	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	C	736;742;663;668	ENSP00000364965:R736C;ENSP00000364959:R663C;ENSP00000436650:R668C	ENSP00000364959:R663C	R	+	1	0	SECISBP2	91162238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.583000	0.87209	0.555000	0.69702	CGC		0.527	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		189	764	0	0	0	1	0	189	764				
SLC35A2	7355	broad.mit.edu	37	X	48767103	48767103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48767103C>T	ENST00000247138.5	-	2	265	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000376521.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	88					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CTCTTCTGTGCGAAGAGCAGC	0.597																																						ENST00000376521.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(262-264)Gca>Aca		solute carrier family 35 (UDP-galactose transporter), member A2							70.0	49.0	56.0					X																	48767103		2203	4300	6503	SO:0001583	missense	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48767103C>T	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.262G>A	X.37:g.48767103C>T	ENSP00000247138:p.Ala88Thr					SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000247138.5_Missense_Mutation_p.A88T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T|SLC35A2_ENST00000413561.2_Intron	p.A88T	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN			2	583	-			88					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.262G>A	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667952	0.29604	.	.	ENSG00000102100	ENST00000247138;ENST00000376529;ENST00000376521;ENST00000445167;ENST00000376515;ENST00000452555;ENST00000446885;ENST00000376512	T;T;T;T	0.46819	0.86;0.87;0.87;0.95	5.51	3.73	0.42828	.	0.451423	0.22929	N	0.053937	T	0.25419	0.0618	N	0.22421	0.69	0.31803	N	0.628153	P;B;P;P;P;B;B	0.48350	0.848;0.049;0.835;0.552;0.909;0.03;0.087	B;B;B;B;B;B;B	0.37198	0.201;0.031;0.16;0.029;0.243;0.04;0.031	T	0.19943	-1.0290	10	0.22706	T	0.39	-6.0309	5.7861	0.18334	0.0:0.6974:0.0:0.3026	.	101;116;101;16;88;88;88	B4DSH7;E7EW45;B4DE15;Q8NBD6;P78381-3;P78381-2;P78381	.;.;.;.;.;.;S35A2_HUMAN	T	88;88;88;88;64;116;16;88	ENSP00000247138:A88T;ENSP00000365704:A88T;ENSP00000416002:A116T;ENSP00000415518:A16T	ENSP00000247138:A88T	A	-	1	0	SLC35A2	48652047	0.979000	0.34478	1.000000	0.80357	0.826000	0.46750	0.243000	0.18106	1.080000	0.41073	0.600000	0.82982	GCA		0.597	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		22	64	0	0	0	1	0	22	64				
PLEKHA7	144100	broad.mit.edu	37	11	16847918	16847918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16847918C>T	ENST00000355661.3	-	10	1102	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P364P|PLEKHA7_ENST00000448080.2_Silent_p.P364P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	364					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTGGCGAGTACGGAGACCTGG	0.607																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1090-1092)ccG>ccA		pleckstrin homology domain containing, family A member 7							66.0	58.0	61.0					11																	16847918		2200	4294	6494	SO:0001819	synonymous_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16847918C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1092G>A	11.37:g.16847918C>T						PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P364P|PLEKHA7_ENST00000448080.2_Silent_p.P364P	p.P364P			Q6IQ23	PKHA7_HUMAN			10	1102	-			364					B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	c.1092G>A	CCDS31434.1																																																																																				0.607	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		11	404	0	0	0	1	0	11	404				
C12orf4	57102	broad.mit.edu	37	12	4634664	4634664	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4634664A>C	ENST00000261250.3	-	5	679	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	198										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGGGATTCAAAATGCTGAGCA	0.318																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(592-594)Ttt>Gtt		chromosome 12 open reading frame 4							142.0	135.0	137.0					12																	4634664		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4634664A>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.592T>G	12.37:g.4634664A>C	ENSP00000261250:p.Phe198Val					C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	p.F198V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	5	679	-			198					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.592T>G	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614009	0.87359	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	L	0.53729	1.69	0.80722	D	1	D	0.67145	0.996	D	0.65684	0.937	T	0.77167	-0.2687	9	0.87932	D	0	.	15.6397	0.76989	1.0:0.0:0.0:0.0	.	198	Q9NQ89	CL004_HUMAN	V	198;198;25	.	ENSP00000261250:F198V	F	-	1	0	C12orf4	4504925	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.645000	0.91049	2.150000	0.67090	0.455000	0.32223	TTT		0.318	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		57	334	0	0	0	1	0	57	334				
NUDT19	390916	broad.mit.edu	37	19	33200284	33200284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33200284T>C	ENST00000397061.3	+	2	908	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	303						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GATGGGATGGTCCATCTTTTA	0.473																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(907-909)gTc>gCc		nudix (nucleoside diphosphate linked moiety X)-type motif 19							135.0	122.0	126.0					19																	33200284		1967	4149	6116	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200284T>C		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.908T>C	19.37:g.33200284T>C	ENSP00000380251:p.Val303Ala						p.V303A	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	908	+	Esophageal squamous(110;0.137)		303						Missense_Mutation	SNP	ENST00000397061.3	37	c.908T>C	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543265	0.45280	.	.	ENSG00000213965	ENST00000397061	T	0.50548	0.74	4.77	4.77	0.60923	.	0.318283	0.26567	U	0.023647	T	0.40956	0.1138	L	0.49778	1.585	0.21290	N	0.999736	B	0.29716	0.255	B	0.27262	0.078	T	0.38308	-0.9667	10	0.46703	T	0.11	-16.3334	10.961	0.47385	0.0:0.0:0.0:1.0	.	303	A8MXV4	NUD19_HUMAN	A	303	ENSP00000380251:V303A	ENSP00000380251:V303A	V	+	2	0	NUDT19	37892124	0.088000	0.21588	0.036000	0.18154	0.087000	0.18053	4.148000	0.58085	1.891000	0.54761	0.482000	0.46254	GTC		0.473	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		71	374	0	0	0	1	0	71	374				
F10	2159	broad.mit.edu	37	13	113803401	113803401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803401G>A	ENST00000375559.3	+	8	1075	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	346	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CTCCCCGAGCGTGACTGGGCC	0.642																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1036-1038)cGt>cAt		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						86.0	71.0	76.0					13																	113803401		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803401G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1037G>A	13.37:g.113803401G>A	ENSP00000364709:p.Arg346His					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.R346H	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1075	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	346			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1037G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960766	0.18583	.	.	ENSG00000126218	ENST00000375559	D	0.93076	-3.16	5.11	3.95	0.45737	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.422310	0.24145	N	0.041130	D	0.89904	0.6850	L	0.55103	1.725	0.09310	N	1	P	0.48764	0.915	B	0.41894	0.369	T	0.83310	-0.0023	10	0.56958	D	0.05	.	7.3273	0.26563	0.6148:0.3028:0.0825:0.0	.	346	P00742	FA10_HUMAN	H	346	ENSP00000364709:R346H	ENSP00000364709:R346H	R	+	2	0	F10	112851402	0.000000	0.05858	0.895000	0.35142	0.002000	0.02628	-0.021000	0.12504	0.804000	0.34136	-0.379000	0.06801	CGT		0.642	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			117	389	0	0	0	1	0	117	389				
INF2	64423	broad.mit.edu	37	14	105174224	105174224	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174224C>T	ENST00000392634.4	+	8	1732	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	INF2_ENST00000330634.7_Silent_p.A540A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	540					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCATCGTGGCCCAGGTGGACC	0.667																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1618-1620)gcC>gcT		inverted formin, FH2 and WH2 domain containing							28.0	31.0	30.0					14																	105174224		2079	4194	6273	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174224C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1620C>T	14.37:g.105174224C>T						INF2_ENST00000330634.7_Silent_p.A540A	p.A540A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1732	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	540					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1620C>T	CCDS9989.2																																																																																				0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		30	160	0	0	0	1	0	30	160				
AHNAK	79026	broad.mit.edu	37	11	62301544	62301544	+	Silent	SNP	G	G	A	rs117532364	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62301544G>A	ENST00000378024.4	-	5	619	c.345C>T	c.(343-345)agC>agT	p.S115S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCATCCCCGCTCTGCAGAA	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		14519	0.001		0.001	False		,,,				2504	0.0					ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(343-345)agC>agT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	42.0	37.0	38.0		345,	4.0	1.0	11	dbSNP_132	38	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	115/5891,	62301544	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301544G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.345C>T	11.37:g.62301544G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S115S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	619	-		Melanoma(852;0.155)	115					A1A586	Silent	SNP	ENST00000378024.4	37	c.345C>T	CCDS31584.1																																																																																				0.602	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		30	161	0	0	0	1	0	30	161				
GNB3	2784	broad.mit.edu	37	12	6952223	6952223	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6952223C>A	ENST00000229264.3	+	5	591	c.186C>A	c.(184-186)caC>caA	p.H62Q	GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	62					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCCATGCACTGGGCCACTG	0.607																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(184-186)caC>caA		guanine nucleotide binding protein (G protein), beta polypeptide 3							118.0	108.0	111.0					12																	6952223		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952223C>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.186C>A	12.37:g.6952223C>A	ENSP00000229264:p.His62Gln					GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q	p.H62Q	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			5	591	+			62					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.186C>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649411	0.67358	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.26	2.4	0.29515	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	N	0.12746	0.255	0.58432	D	0.999999	P;P	0.45078	0.85;0.542	P;B	0.46275	0.51;0.248	T	0.28964	-1.0027	10	0.40728	T	0.16	-13.0059	10.6396	0.45586	0.0:0.7865:0.0:0.2135	.	62;62	E9PCP0;P16520	.;GBB3_HUMAN	Q	62	ENSP00000229264:H62Q;ENSP00000442002:H62Q;ENSP00000414734:H62Q;ENSP00000445967:H62Q	ENSP00000229264:H62Q	H	+	3	2	GNB3	6822484	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.069000	0.41481	0.606000	0.29965	0.491000	0.48974	CAC		0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		55	269	1	0	9.52127e-25	1	1.09014e-24	55	269				
ITGA5	3678	broad.mit.edu	37	12	54802689	54802689	+	Silent	SNP	G	G	A	rs147213910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54802689G>A	ENST00000293379.4	-	5	894	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	211					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGTGAACTCGGCACTGAAGC	0.577																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(631-633)gcC>gcT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)		A		1,4405	2.1+/-5.4	0,1,2202	110.0	100.0	103.0		633	-9.3	0.1	12	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous	ITGA5	NM_002205.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		211/1050	54802689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54802689G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.633C>T	12.37:g.54802689G>A						RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.A211A	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			5	894	-			211					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.633C>T	CCDS8880.1																																																																																				0.577	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			62	220	0	0	0	1	0	62	220				
ULK1	8408	broad.mit.edu	37	12	132393284	132393284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132393284G>A	ENST00000321867.4	+	6	763	c.412G>A	c.(412-414)Gac>Aac	p.D138N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCCACCGCGACCTGAAACC	0.672																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(412-414)Gac>Aac		unc-51 like autophagy activating kinase 1							26.0	26.0	26.0					12																	132393284		2197	4298	6495	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132393284G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.412G>A	12.37:g.132393284G>A	ENSP00000324560:p.Asp138Asn						p.D138N	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	6	763	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		138			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.412G>A	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097301	0.97281	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	D;D;D	0.92965	-3.14;-3.14;-3.14	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97508	0.9184	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98391	1.0563	10	0.87932	D	0	-51.9126	19.4219	0.94725	0.0:0.0:1.0:0.0	.	138	O75385	ULK1_HUMAN	N	138;55;32	ENSP00000324560:D138N;ENSP00000438953:D55N;ENSP00000444983:D32N	ENSP00000324560:D138N	D	+	1	0	ULK1	130959237	1.000000	0.71417	0.948000	0.38648	0.992000	0.81027	9.832000	0.99423	2.593000	0.87608	0.455000	0.32223	GAC		0.672	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			50	143	0	0	0	1	0	50	143				
AP3B1	8546	broad.mit.edu	37	5	77473166	77473166	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77473166T>G	ENST00000255194.6	-	9	1212	c.1037A>C	c.(1036-1038)aAt>aCt	p.N346T	AP3B1_ENST00000519295.1_Missense_Mutation_p.N297T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	346					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GACCTACCTATTGCTACGAAG	0.323									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1036-1038)aAt>aCt		adaptor-related protein complex 3, beta 1 subunit							97.0	93.0	94.0					5																	77473166		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77473166T>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1037A>C	5.37:g.77473166T>G	ENSP00000255194:p.Asn346Thr					AP3B1_ENST00000519295.1_Missense_Mutation_p.N297T	p.N346T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	9	1212	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	346					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1037A>C	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516823	0.64634	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.25414	1.8;1.8	5.45	3.06	0.35304	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.185075	0.56097	D	0.000025	T	0.25606	0.0623	L	0.29908	0.895	0.40808	D	0.983395	P	0.38223	0.623	P	0.46452	0.517	T	0.04737	-1.0930	10	0.66056	D	0.02	.	9.6986	0.40171	0.0:0.1412:0.0:0.8588	.	346	O00203	AP3B1_HUMAN	T	346;297;346;250	ENSP00000255194:N346T;ENSP00000430597:N297T	ENSP00000255194:N346T	N	-	2	0	AP3B1	77508922	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.981000	0.56902	0.376000	0.24707	0.402000	0.26972	AAT		0.323	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			9	312	0	0	0	1	0	9	312				
PTPRZ1	5803	broad.mit.edu	37	7	121652806	121652806	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121652806C>T	ENST00000393386.2	+	12	4117	c.3706C>T	c.(3706-3708)Ctg>Ttg	p.L1236L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1236					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAAAACATGCTGCACTCTAC	0.388																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3706-3708)Ctg>Ttg		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							159.0	159.0	159.0					7																	121652806		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652806C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3706C>T	7.37:g.121652806C>T						PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.L1236L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	4117	+			1236					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.3706C>T	CCDS34740.1																																																																																				0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		164	721	0	0	0	1	0	164	721				
PRKD1	5587	broad.mit.edu	37	14	30107904	30107904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107904G>A	ENST00000331968.5	-	5	1132	c.903C>T	c.(901-903)tgC>tgT	p.C301C	PRKD1_ENST00000415220.2_Silent_p.C309C|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	301					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTACCTTTGCACTGCAAGC	0.458																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(901-903)tgC>tgT		protein kinase D1							56.0	51.0	53.0					14																	30107904		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30107904G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.903C>T	14.37:g.30107904G>A						PRKD1_ENST00000415220.2_Silent_p.C309C|PRKD1_ENST00000551644.1_5'UTR	p.C301C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	5	1132	-	Hepatocellular(127;0.0604)		301					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.903C>T	CCDS9637.1																																																																																				0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		36	151	0	0	0	1	0	36	151				
GPR137	56834	broad.mit.edu	37	11	64054338	64054338	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054338C>T	ENST00000313074.3	+	1	447	c.342C>T	c.(340-342)aaC>aaT	p.N114N	GPR137_ENST00000438980.2_Silent_p.N114N|GPR137_ENST00000539851.1_Silent_p.N114N|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000394531.3_5'Flank|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000411458.1_Silent_p.N172N|GPR137_ENST00000377702.4_Silent_p.N114N	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	114						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGCTTATGAACCTCTACTTTG	0.617																																						ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(340-342)aaC>aaT		G protein-coupled receptor 137							77.0	79.0	78.0					11																	64054338		2201	4297	6498	SO:0001819	synonymous_variant	56834					integral to membrane		g.chr11:64054338C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.342C>T	11.37:g.64054338C>T						GPR137_ENST00000313074.3_Silent_p.N114N|GPR137_ENST00000377702.4_Silent_p.N114N|GPR137_ENST00000411458.1_Silent_p.N172N|GPR137_ENST00000438980.2_Silent_p.N114N	p.N114N	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			2	809	+			114					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	37	c.342C>T	CCDS8066.1																																																																																				0.617	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		23	654	0	0	0	1	0	23	654				
NSRP1	84081	broad.mit.edu	37	17	28512482	28512482	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28512482C>T	ENST00000247026.5	+	7	1530	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	489					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AAGAGAAACCCTCTAATTCTG	0.433																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(1465-1467)ccC>ccT		nuclear speckle splicing regulatory protein 1							93.0	94.0	94.0					17																	28512482		2203	4300	6503	SO:0001819	synonymous_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28512482C>T	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1467C>T	17.37:g.28512482C>T						NSRP1_ENST00000540900.3_3'UTR	p.P489P	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	1530	+			489					Q6FI71	Silent	SNP	ENST00000247026.5	37	c.1467C>T	CCDS11255.1																																																																																				0.433	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		72	347	0	0	0	1	0	72	347				
DUSP13	51207	broad.mit.edu	37	10	76867809	76867809	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76867809A>C	ENST00000372702.3	-	2	371	c.308T>G	c.(307-309)aTc>aGc	p.I103S	DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000607009.1_5'UTR			Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	112					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTAGGCACTGATGTCAAAATC	0.607																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000372702.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(307-309)aTc>aGc		dual specificity phosphatase 13							42.0	52.0	49.0					10																	76867809		2056	4190	6246	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76867809A>C	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000372702.3:c.308T>G	10.37:g.76867809A>C	ENSP00000361787:p.Ile103Ser					DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR	p.I103S			Q6B8I1	MDSP_HUMAN			2	371	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		103			Tyrosine-protein phosphatase.		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000372702.3	37	c.308T>G	CCDS53542.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927486	0.92389	.	.	ENSG00000079393	ENST00000372702	D	0.87966	-2.32	5.35	5.35	0.76521	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	D	0.95007	0.8384	H	0.95574	3.69	0.80722	D	1	D	0.56521	0.976	D	0.64506	0.926	D	0.96270	0.9198	9	0.87932	D	0	.	14.4397	0.67306	1.0:0.0:0.0:0.0	.	103	Q6B8I1	MDSP_HUMAN	S	103	ENSP00000361787:I103S	ENSP00000361787:I103S	I	-	2	0	DUSP13	76537815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.420000	0.90256	2.244000	0.73946	0.533000	0.62120	ATC		0.607	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401503.3			36	121	0	0	0	1	0	36	121				
CNN2	1265	broad.mit.edu	37	19	1032601	1032601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1032601G>A	ENST00000263097.4	+	4	659	c.296G>A	c.(295-297)gGc>gAc	p.G99D	CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000565096.2_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.G99D	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	99	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGCTACGGCATGAACCCT	0.577																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(295-297)gGc>gAc		calponin 2							75.0	68.0	71.0					19																	1032601		2203	4300	6503	SO:0001583	missense	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1032601G>A	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.296G>A	19.37:g.1032601G>A	ENSP00000263097:p.Gly99Asp					CNN2_ENST00000565096.2_Missense_Mutation_p.G99D|CNN2_ENST00000562958.2_Missense_Mutation_p.G99D|CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR	p.G99D	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	659	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	99			CH.		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	c.296G>A	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339530	0.81911	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.67171	-0.25;-0.25	4.05	4.05	0.47172	Calponin homology domain (5);	0.000000	0.85682	U	0.000000	D	0.86636	0.5980	H	0.96301	3.8	0.54753	D	0.999987	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.99;0.998;0.996;0.991;0.996	D	0.90803	0.4695	10	0.87932	D	0	.	13.759	0.62954	0.0:0.0:1.0:0.0	.	99;99;99;99;99	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	D	99;99;78	ENSP00000263097:G99D;ENSP00000340129:G99D	ENSP00000263097:G99D	G	+	2	0	CNN2	983601	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.068000	0.93961	1.827000	0.53221	0.306000	0.20318	GGC		0.577	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		51	236	0	0	0	1	0	51	236				
DIDO1	11083	broad.mit.edu	37	20	61512142	61512142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512142G>A	ENST00000266070.4	-	16	5491	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	DIDO1_ENST00000395343.1_Silent_p.D1722D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1722					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGCTCTCTGTCCCCCTCTG	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5164-5166)gaC>gaT		death inducer-obliterator 1							64.0	75.0	71.0					20																	61512142		2202	4299	6501	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512142G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5166C>T	20.37:g.61512142G>A						DIDO1_ENST00000395343.1_Silent_p.D1722D	p.D1722D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5491	-	Breast(26;5.68e-08)		1722					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5166C>T	CCDS33506.1																																																																																				0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		121	588	0	0	0	1	0	121	588				
FBXL4	26235	broad.mit.edu	37	6	99374837	99374837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99374837C>T	ENST00000369244.2	-	4	456	c.28G>A	c.(28-30)Gtt>Att	p.V10I	FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	10					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATGGTCAGAACTGTTAACATG	0.428																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(28-30)Gtt>Att		F-box and leucine-rich repeat protein 4							118.0	113.0	115.0					6																	99374837		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99374837C>T	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.28G>A	6.37:g.99374837C>T	ENSP00000358247:p.Val10Ile					FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	p.V10I			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	4	456	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	10					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.28G>A	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092630	0.56075	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.15017	2.46;2.46	5.52	4.66	0.58398	.	0.057782	0.64402	D	0.000001	T	0.09555	0.0235	L	0.51422	1.61	0.47547	D	0.999454	B	0.34372	0.451	B	0.31869	0.137	T	0.03354	-1.1045	10	0.66056	D	0.02	.	14.7707	0.69675	0.0:0.9303:0.0:0.0697	.	10	Q9UKA2	FBXL4_HUMAN	I	10	ENSP00000358247:V10I;ENSP00000229971:V10I	ENSP00000229971:V10I	V	-	1	0	FBXL4	99481558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.935000	0.56560	1.474000	0.48178	0.650000	0.86243	GTT		0.428	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			18	555	0	0	0	1	0	18	555				
SMC2	10592	broad.mit.edu	37	9	106896748	106896748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106896748C>T	ENST00000286398.7	+	23	3449	c.3161C>T	c.(3160-3162)gCt>gTt	p.A1054V	SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V|SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V|SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1054					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGTGCTAATGCTATGCTTGCA	0.398																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(3160-3162)gCt>gTt		structural maintenance of chromosomes 2							122.0	120.0	121.0					9																	106896748		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106896748C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3161C>T	9.37:g.106896748C>T	ENSP00000286398:p.Ala1054Val					SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V|SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V|SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V	p.A1054V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			23	3449	+			1054					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3161C>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406271	0.96051	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.79	5.79	0.91817	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45789	-0.9237	10	0.87932	D	0	-12.3446	18.6078	0.91272	0.0:1.0:0.0:0.0	.	1054	O95347	SMC2_HUMAN	V	1054	ENSP00000286398:A1054V;ENSP00000363925:A1054V;ENSP00000306152:A1054V;ENSP00000363919:A1054V	ENSP00000286398:A1054V	A	+	2	0	SMC2	105936569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.741000	0.93983	0.484000	0.47621	GCT		0.398	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			14	386	0	0	0	1	0	14	386				
CDH22	64405	broad.mit.edu	37	20	44815292	44815292	+	Missense_Mutation	SNP	C	C	T	rs117065621	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815292C>T	ENST00000372262.3	-	9	1998	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	CDH22_ENST00000537909.1_Missense_Mutation_p.R533H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAAATAGAAGCGGTGCCCGCC	0.587													C|||	8	0.00159744	0.0	0.0072	5008	,	,		20301	0.0		0.003	False		,,,				2504	0.0					ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1597-1599)cGc>cAc		cadherin 22, type 2		C	HIS/ARG	4,4402	4.2+/-10.8	0,4,2199	76.0	72.0	74.0		1598	3.4	1.0	20	dbSNP_132	74	28,8572	19.8+/-62.0	0,28,4272	yes	missense	CDH22	NM_021248.1	29	0,32,6471	TT,TC,CC		0.3256,0.0908,0.246	benign	533/829	44815292	32,12974	2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815292C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1598G>A	20.37:g.44815292C>T	ENSP00000361336:p.Arg533His					CDH22_ENST00000537909.1_Missense_Mutation_p.R533H	p.R533H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			9	1998	-		Myeloproliferative disorder(115;0.0122)	533			Cadherin 5.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1598G>A	CCDS13395.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	7.196	0.592583	0.13875	9.08E-4	0.003256	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.51325	0.71;0.71	4.38	3.43	0.39272	Cadherin (4);Cadherin-like (1);	0.200609	0.44285	D	0.000472	T	0.27594	0.0678	N	0.17248	0.465	0.32239	N	0.573016	B	0.11235	0.004	B	0.06405	0.002	T	0.26224	-1.0109	10	0.09843	T	0.71	.	11.3224	0.49430	0.0:0.909:0.0:0.091	.	533	Q9UJ99	CAD22_HUMAN	H	533	ENSP00000361336:R533H;ENSP00000437790:R533H	ENSP00000361336:R533H	R	-	2	0	CDH22	44248699	0.988000	0.35896	1.000000	0.80357	0.992000	0.81027	0.903000	0.28475	0.844000	0.35094	0.442000	0.29010	CGC		0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		61	244	0	0	0	1	0	61	244				
DHX58	79132	broad.mit.edu	37	17	40257177	40257177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257177C>T	ENST00000251642.3	-	10	1482	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	420	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACTTCTTGCTGGTCCCTCT	0.587																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1258-1260)caG>caA		DEXH (Asp-Glu-X-His) box polypeptide 58							49.0	41.0	44.0					17																	40257177		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40257177C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1260G>A	17.37:g.40257177C>T							p.Q420Q	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1482	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	420			Helicase C-terminal.		Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.1260G>A	CCDS11416.1																																																																																				0.587	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		25	111	0	0	0	1	0	25	111				
MNX1	3110	broad.mit.edu	37	7	156803024	156803024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156803024G>A	ENST00000252971.6	-	1	321	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MNX1_ENST00000543409.1_5'Flank|MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000469500.1_5'Flank	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	7					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTCGATGCGGAAATTTTTGG	0.716																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(19-21)ttC>ttT		motor neuron and pancreas homeobox 1							8.0	10.0	10.0					7																	156803024		1655	3164	4819	SO:0001819	synonymous_variant	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156803024G>A	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.21C>T	7.37:g.156803024G>A							p.F7F	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	321	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	7					F5H401|Q9Y648	Silent	SNP	ENST00000252971.6	37	c.21C>T	CCDS34788.1																																																																																				0.716	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			13	64	0	0	0	1	0	13	64				
FILIP1	27145	broad.mit.edu	37	6	76023122	76023122	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023122G>A	ENST00000237172.7	-	5	2756	c.2426C>T	c.(2425-2427)gCa>gTa	p.A809V	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A710V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A809V	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	809										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCGCTGACTGCATCAGTTTG	0.483																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2425-2427)gCa>gTa		filamin A interacting protein 1							140.0	147.0	145.0					6																	76023122		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023122G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2426C>T	6.37:g.76023122G>A	ENSP00000237172:p.Ala809Val					FILIP1_ENST00000237172.7_Missense_Mutation_p.A809V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A710V	p.A809V			Q7Z7B0	FLIP1_HUMAN			5	2647	-			809					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2426C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	0.132	-1.112103	0.01813	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19394	2.15;2.16;2.16	4.95	0.0472	0.14280	.	0.384981	0.26750	N	0.022690	T	0.03827	0.0108	L	0.27053	0.805	0.30672	N	0.753318	B;B;B	0.15141	0.012;0.005;0.009	B;B;B	0.17098	0.006;0.012;0.017	T	0.40232	-0.9574	10	0.28530	T	0.3	-5.6367	5.4874	0.16757	0.3465:0.0:0.5263:0.1272	.	809;809;809	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	809;809;710	ENSP00000376728:A809V;ENSP00000237172:A809V;ENSP00000359037:A710V	ENSP00000237172:A809V	A	-	2	0	FILIP1	76079842	0.680000	0.27605	0.039000	0.18376	0.042000	0.13812	0.949000	0.29109	0.086000	0.17137	-0.471000	0.05019	GCA		0.483	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		27	911	0	0	0	1	0	27	911				
PAK4	10298	broad.mit.edu	37	19	39667298	39667298	+	Silent	SNP	C	C	T	rs201757969		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667298C>T	ENST00000593690.1	+	9	1855	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	PAK4_ENST00000599470.1_Silent_p.V323V|PAK4_ENST00000599386.1_Silent_p.V323V|PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000360442.3_Silent_p.V476V	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGTCGCTGGTCGGCACGCCCT	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		15633	0.0		0.001	False		,,,				2504	0.0					ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(967-969)gtC>gtT		p21 protein (Cdc42/Rac)-activated kinase 4							116.0	122.0	120.0					19																	39667298		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39667298C>T	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1428C>T	19.37:g.39667298C>T						PAK4_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000599470.1_Silent_p.V323V|PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000593690.1_Silent_p.V476V|PAK4_ENST00000360442.3_Silent_p.V476V	p.V323V	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		7	1150	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		476			GEF-interaction domain (GID).|Protein kinase.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	ENST00000593690.1	37	c.969C>T	CCDS12528.1																																																																																				0.657	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			195	894	0	0	0	1	0	195	894				
TMEM8C	389827	broad.mit.edu	37	9	136385362	136385362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136385362G>A	ENST00000339996.3	-	2	285	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	62					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ATGTCGTGACGCATGAAGCAC	0.587																																						ENST00000339996.3																			0				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						c.(184-186)Cgt>Tgt		transmembrane protein 8C							134.0	107.0	116.0					9																	136385362		2203	4300	6503	SO:0001583	missense	389827					integral to membrane		g.chr9:136385362G>A	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.184C>T	9.37:g.136385362G>A	ENSP00000419712:p.Arg62Cys					TMEM8C_ENST00000413714.1_5'UTR	p.R62C	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN			2	285	-			62						Missense_Mutation	SNP	ENST00000339996.3	37	c.184C>T	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620717	0.46736	.	.	ENSG00000187616	ENST00000339996	T	0.46819	0.86	4.93	4.93	0.64822	.	0.147714	0.38326	N	0.001730	T	0.60301	0.2258	L	0.56769	1.78	0.41486	D	0.988199	D	0.76494	0.999	P	0.57846	0.828	T	0.64859	-0.6308	10	0.66056	D	0.02	-14.4596	15.3445	0.74324	0.0:0.0:1.0:0.0	.	62	A6NI61	TMM8C_HUMAN	C	62	ENSP00000419712:R62C	ENSP00000419712:R62C	R	-	1	0	TMEM8C	135375183	1.000000	0.71417	0.428000	0.26697	0.117000	0.20001	4.457000	0.60088	2.291000	0.77112	0.456000	0.33151	CGT		0.587	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		13	302	0	0	0	1	0	13	302				
MAB21L2	10586	broad.mit.edu	37	4	151504454	151504454	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504454C>T	ENST00000317605.4	+	1	1378	c.273C>T	c.(271-273)gaC>gaT	p.D91D	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_5'Flank	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	91					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCGTGGACGACGGCTCGCTGC	0.602																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(271-273)gaC>gaT		mab-21-like 2 (C. elegans)							81.0	75.0	77.0					4																	151504454		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504454C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.273C>T	4.37:g.151504454C>T						LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	p.D91D	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1378	+	all_hematologic(180;0.151)		91					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.273C>T	CCDS3774.1																																																																																				0.602	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		76	377	0	0	0	1	0	76	377				
C11orf84	144097	broad.mit.edu	37	11	63585407	63585407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63585407C>T	ENST00000294244.4	+	2	557	c.258C>T	c.(256-258)agC>agT	p.S86S		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	86										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGAGGCAGCGGGCGGGCAC	0.667																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(256-258)agC>agT		chromosome 11 open reading frame 84							67.0	62.0	64.0					11																	63585407		2201	4298	6499	SO:0001819	synonymous_variant	144097							g.chr11:63585407C>T	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.258C>T	11.37:g.63585407C>T							p.S86S	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			2	557	+			86					Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.258C>T	CCDS31594.1																																																																																				0.667	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		36	168	0	0	0	1	0	36	168				
DUOX1	53905	broad.mit.edu	37	15	45437193	45437193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45437193G>A	ENST00000321429.4	+	19	2644	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	746					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGGAGCTGCGGGAGCAGGAG	0.597																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2236-2238)cGg>cAg		dual oxidase 1							93.0	98.0	96.0					15																	45437193		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45437193G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2237G>A	15.37:g.45437193G>A	ENSP00000317997:p.Arg746Gln					DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q|DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q	p.R746Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	19	2644	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	746					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.2237G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723706	0.30593	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85484	-1.99;-1.99	4.81	3.9	0.45041	.	0.255145	0.43260	D	0.000594	T	0.76688	0.4022	L	0.48642	1.525	0.35635	D	0.810526	P	0.46656	0.882	B	0.41332	0.354	T	0.75966	-0.3131	10	0.14252	T	0.57	-18.0719	7.5208	0.27626	0.1912:0.0:0.8088:0.0	.	746	Q9NRD9	DUOX1_HUMAN	Q	746	ENSP00000317997:R746Q;ENSP00000373689:R746Q	ENSP00000317997:R746Q	R	+	2	0	DUOX1	43224485	0.961000	0.32948	0.992000	0.48379	0.898000	0.52572	1.737000	0.38197	1.388000	0.46506	-0.140000	0.14226	CGG		0.597	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		114	525	0	0	0	1	0	114	525				
TTC16	158248	broad.mit.edu	37	9	130479252	130479252	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130479252C>A	ENST00000373289.3	+	2	228	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000543175.1_5'Flank|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	50										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGATGTAAAACCAAAGGTCAC	0.532																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(148-150)Cca>Aca		tetratricopeptide repeat domain 16							125.0	109.0	114.0					9																	130479252		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130479252C>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.148C>A	9.37:g.130479252C>A	ENSP00000362386:p.Pro50Thr					PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Intron	p.P50T	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			2	228	+			50					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.148C>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880479	0.33255	.	.	ENSG00000167094	ENST00000373289	T	0.16324	2.35	3.8	1.89	0.25635	.	0.956369	0.08540	N	0.930685	T	0.24851	0.0603	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.922	T	0.19712	-1.0297	10	0.35671	T	0.21	-0.42	5.2921	0.15733	0.0:0.6748:0.2087:0.1165	.	50;50	B4DZ42;Q8NEE8	.;TTC16_HUMAN	T	50	ENSP00000362386:P50T	ENSP00000362386:P50T	P	+	1	0	TTC16	129519073	0.033000	0.19621	0.001000	0.08648	0.001000	0.01503	0.491000	0.22419	0.384000	0.24942	-0.502000	0.04539	CCA		0.532	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		54	211	1	0	3.31993e-32	1	3.91856e-32	54	211				
HTR3C	170572	broad.mit.edu	37	3	183777407	183777407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777407G>A	ENST00000318351.1	+	7	938	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	302					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTTGCTCCCTGCCAGTGGCAC	0.587																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(904-906)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							150.0	136.0	141.0					3																	183777407		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777407G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.904G>A	3.37:g.183777407G>A	ENSP00000322617:p.Ala302Thr						p.A302T	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	938	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		302					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.904G>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	3.979	-0.006760	0.07773	.	.	ENSG00000178084	ENST00000318351	D	0.81908	-1.55	4.09	1.1	0.20463	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.741044	0.12903	N	0.429618	T	0.79458	0.4449	M	0.71581	2.175	0.09310	N	1	B	0.14805	0.011	B	0.29267	0.1	T	0.63857	-0.6542	10	0.22109	T	0.4	.	6.2804	0.21003	0.0929:0.0:0.5624:0.3447	.	302	Q8WXA8	5HT3C_HUMAN	T	302	ENSP00000322617:A302T	ENSP00000322617:A302T	A	+	1	0	HTR3C	185260101	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.477000	0.22196	0.013000	0.14918	-0.274000	0.10170	GCC		0.587	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		170	659	0	0	0	1	0	170	659				
TLR4	7099	broad.mit.edu	37	9	120475182	120475182	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:120475182T>C	ENST00000355622.6	+	3	877	c.776T>C	c.(775-777)gTt>gCt	p.V259A	TLR4_ENST00000394487.4_Missense_Mutation_p.V219A|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	259					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CATCGTTTGGTTCTGGGAGAA	0.353																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(775-777)gTt>gCt		toll-like receptor 4							76.0	84.0	81.0					9																	120475182		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475182T>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.776T>C	9.37:g.120475182T>C	ENSP00000363089:p.Val259Ala					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V219A	p.V259A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	877	+			259					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.776T>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965554	0.34659	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37235	1.47;1.21	5.57	5.57	0.84162	.	0.285150	0.30285	N	0.009963	T	0.40145	0.1105	M	0.72118	2.19	0.09310	N	1	B	0.32893	0.389	B	0.31390	0.129	T	0.46428	-0.9192	10	0.72032	D	0.01	.	14.2982	0.66329	0.0:0.0:0.0:1.0	.	259	O00206	TLR4_HUMAN	A	219;259	ENSP00000377997:V219A;ENSP00000363089:V259A	ENSP00000363089:V259A	V	+	2	0	TLR4	119515003	0.999000	0.42202	0.527000	0.27925	0.514000	0.34195	4.087000	0.57671	2.120000	0.65058	0.533000	0.62120	GTT		0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		19	628	0	0	0	1	0	19	628				
LRWD1	222229	broad.mit.edu	37	7	102106440	102106440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102106440C>T	ENST00000292616.5	+	2	409	c.257C>T	c.(256-258)gCc>gTc	p.A86V	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	86					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GATGTTACTGCCTTGTGCCAG	0.627																																						ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(256-258)gCc>gTc		leucine-rich repeats and WD repeat domain containing 1							49.0	48.0	48.0					7																	102106440		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106440C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.257C>T	7.37:g.102106440C>T	ENSP00000292616:p.Ala86Val						p.A86V	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			2	409	+			86					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.257C>T	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090407	0.20471	.	.	ENSG00000161036	ENST00000292616	T	0.60040	0.22	5.19	-0.411	0.12370	.	1.003600	0.08021	N	0.991985	T	0.32255	0.0823	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14117	-1.0484	10	0.23302	T	0.38	-21.2124	1.2457	0.01972	0.1397:0.3396:0.2726:0.2481	.	86	Q9UFC0	LRWD1_HUMAN	V	86	ENSP00000292616:A86V	ENSP00000292616:A86V	A	+	2	0	LRWD1	101893445	0.000000	0.05858	0.000000	0.03702	0.707000	0.40811	0.133000	0.15912	-0.382000	0.07870	0.561000	0.74099	GCC		0.627	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		22	203	0	0	0	1	0	22	203				
ELMO3	79767	broad.mit.edu	37	16	67237764	67237764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67237764G>A	ENST00000360833.1	+	19	2312	c.2255G>A	c.(2254-2256)aGc>aAc	p.S752N	ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N|ELMO3_ENST00000393997.2_Missense_Mutation_p.S769N|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	716					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TATGACTGCAGCATCGCTGAA	0.642																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2305-2307)aGc>aAc		engulfment and cell motility 3							15.0	16.0	16.0					16																	67237764		1941	4123	6064	SO:0001583	missense	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237764G>A		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2255G>A	16.37:g.67237764G>A	ENSP00000354077:p.Ser752Asn					ELMO3_ENST00000360833.1_Missense_Mutation_p.S752N|ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N	p.S769N	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	20	2363	+		Ovarian(137;0.0563)	716					B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37	c.2306G>A		.	.	.	.	.	.	.	.	.	.	G	8.596	0.885780	0.17540	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.14766	2.48;2.48	5.32	4.34	0.51931	.	0.124832	0.64402	D	0.000001	T	0.13243	0.0321	L	0.39020	1.185	0.49582	D	0.999802	B;P;P	0.39480	0.181;0.675;0.493	B;B;B	0.41988	0.033;0.372;0.234	T	0.10154	-1.0642	10	0.18710	T	0.47	-11.2324	13.1906	0.59709	0.0:0.3065:0.6935:0.0	.	716;752;769	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	752;769	ENSP00000354077:S752N;ENSP00000377566:S769N	ENSP00000354077:S752N	S	+	2	0	ELMO3	65795265	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.302000	0.51849	1.221000	0.43506	0.563000	0.77884	AGC		0.642	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		27	96	0	0	0	1	0	27	96				
MRPL49	740	broad.mit.edu	37	11	64889267	64889267	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64889267C>T	ENST00000279242.2	+	0	0				MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000529259.1_Missense_Mutation_p.A7T|FAU_ENST00000531743.1_Missense_Mutation_p.A7T|FAU_ENST00000434372.2_Missense_Mutation_p.A7T|FAU_ENST00000279259.3_Missense_Mutation_p.A7T|FAU_ENST00000527548.1_Missense_Mutation_p.A7T|FAU_ENST00000525297.1_Missense_Mutation_p.A7T|FAU_ENST00000529639.1_Missense_Mutation_p.A7T|MRPL49_ENST00000531705.1_5'Flank	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						AGCTCCTGGGCGCGGACAAAG	0.527																																						ENST00000529259.1																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(19-21)Gcc>Acc		Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed							73.0	65.0	68.0					11																	64889267		2201	4297	6498	SO:0001631	upstream_gene_variant	2197							g.chr11:64889267C>T		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889267C>T	Exception_encountered					FAU_ENST00000279259.3_Missense_Mutation_p.A7T|FAU_ENST00000529639.1_Missense_Mutation_p.A7T|FAU_ENST00000527548.1_Missense_Mutation_p.A7T|FAU_ENST00000434372.2_Missense_Mutation_p.A7T|FAU_ENST00000525297.1_Missense_Mutation_p.A7T|FAU_ENST00000531743.1_Missense_Mutation_p.A7T	p.A7T			P35544	UBIM_HUMAN			1	120	-			7					B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	c.19G>A	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282241	0.80692	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T;T	0.54071	1.16;1.16;0.59;1.16;1.16;1.16;1.16;1.16	5.92	5.92	0.95590	Ubiquitin supergroup (1);Ubiquitin (1);	0.049252	0.85682	D	0.000000	T	0.38241	0.1033	L	0.28649	0.875	0.80722	D	1	B;P	0.36183	0.025;0.542	B;B	0.33568	0.055;0.166	T	0.30001	-0.9993	10	0.02654	T	1	-0.9377	17.8282	0.88672	0.0:1.0:0.0:0.0	.	7;7	E9PMS9;P35544	.;UBIM_HUMAN	T	7	ENSP00000435370:A7T;ENSP00000431822:A7T;ENSP00000436110:A7T;ENSP00000434440:A7T;ENSP00000279259:A7T;ENSP00000434680:A7T;ENSP00000433139:A7T;ENSP00000413848:A7T	ENSP00000279259:A7T	A	-	1	0	FAU	64645843	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.739000	0.68622	2.822000	0.97130	0.650000	0.86243	GCC		0.527	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		34	206	0	0	0	1	0	34	206				
FLG	2312	broad.mit.edu	37	1	152281915	152281915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281915T>C	ENST00000368799.1	-	3	5482	c.5447A>G	c.(5446-5448)cAc>cGc	p.H1816R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1816	Ser-rich.		H -> Q (in dbSNP:rs12073613).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCCTGGGTGTCCACGAAT	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5446-5448)cAc>cGc		filaggrin							360.0	364.0	362.0					1																	152281915		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281915T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5447A>G	1.37:g.152281915T>C	ENSP00000357789:p.His1816Arg					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H1816R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5482	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1816		H -> Q (in dbSNP:rs12073613).	Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5447A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	5.848	0.340718	0.11069	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01629	4.72	4.0	0.302	0.15786	.	.	.	.	.	T	0.00608	0.0020	M	0.65320	2	0.09310	N	1	P	0.37864	0.61	B	0.37833	0.259	T	0.39881	-0.9592	9	0.05525	T	0.97	.	6.1779	0.20455	0.0:0.3321:0.0:0.6679	.	1816	P20930	FILA_HUMAN	R	1816;51	ENSP00000357789:H1816R	ENSP00000271820:H51R	H	-	2	0	FLG	150548539	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.039000	0.13602	-0.490000	0.04691	CAC		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		698	2166	0	0	0	1	0	698	2166				
CRELD1	78987	broad.mit.edu	37	3	9982689	9982689	+	Missense_Mutation	SNP	G	G	A	rs200024536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982689G>A	ENST00000383811.3	+	5	1215	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T|CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	206					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGAACGCAACGCCAGCCATCT	0.642													G|||	2	0.000399361	0.0	0.0029	5008	,	,		14398	0.0		0.0	False		,,,				2504	0.0					ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(616-618)Gcc>Acc		cysteine-rich with EGF-like domains 1							74.0	73.0	73.0					3																	9982689		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982689G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.616G>A	3.37:g.9982689G>A	ENSP00000373322:p.Ala206Thr					CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T	p.A206T	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			5	1215	+			206					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.616G>A	CCDS2593.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	12.35	1.911143	0.33721	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.62364	0.14;0.14;0.14;0.03	5.33	-1.41	0.08941	EGF-like, laminin (1);Growth factor, receptor (1);	0.494060	0.20817	N	0.085124	T	0.22126	0.0533	N	0.05124	-0.11	0.21445	N	0.999681	B;B	0.18013	0.0;0.025	B;B	0.12837	0.0;0.008	T	0.09975	-1.0650	9	.	.	.	.	4.0109	0.09623	0.3124:0.0:0.4295:0.2581	.	206;206	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	T	206	ENSP00000380355:A206T;ENSP00000373322:A206T;ENSP00000393643:A206T;ENSP00000321856:A206T	.	A	+	1	0	CRELD1	9957689	0.552000	0.26505	0.968000	0.41197	0.985000	0.73830	0.141000	0.16076	-0.034000	0.13713	0.561000	0.74099	GCC		0.642	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		82	347	0	0	0	1	0	82	347				
CACNA1I	8911	broad.mit.edu	37	22	39966944	39966944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39966944C>T	ENST00000402142.3	+	1	187	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	63					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTCTGCCTGCGACAGACCAC	0.652																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(187-189)Cga>Tga		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						80.0	90.0	87.0					22																	39966944		2081	4198	6279	SO:0001587	stop_gained	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39966944C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.187C>T	22.37:g.39966944C>T	ENSP00000385019:p.Arg63*					CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000402142.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*	p.R63*			Q9P0X4	CAC1I_HUMAN			1	187	+	Melanoma(58;0.0749)		63					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Nonsense_Mutation	SNP	ENST00000402142.3	37	c.187C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	38	6.821164	0.97865	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	5.27	4.18	0.49190	.	3.044690	0.01288	N	0.009929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.6336	0.51189	0.3447:0.6553:0.0:0.0	.	.	.	.	X	63	.	ENSP00000337829:R63X	R	+	1	2	CACNA1I	38296890	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.915000	0.63355	2.633000	0.89246	0.561000	0.74099	CGA		0.652	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		89	505	0	0	0	1	0	89	505				
DSP	1832	broad.mit.edu	37	6	7578046	7578046	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7578046G>T	ENST00000379802.3	+	21	3253	c.2912G>T	c.(2911-2913)gGa>gTa	p.G971V	DSP_ENST00000418664.2_Missense_Mutation_p.G971V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	971	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACACCTCAGGACTGGAAACT	0.418																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2911-2913)gGa>gTa		desmoplakin							138.0	130.0	133.0					6																	7578046		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7578046G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2912G>T	6.37:g.7578046G>T	ENSP00000369129:p.Gly971Val					DSP_ENST00000418664.2_Missense_Mutation_p.G971V	p.G971V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	21	3253	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	971			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2912G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008277	0.75046	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.78595	-1.19;2.07	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000016	T	0.82038	0.4950	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76318	-0.3003	10	0.14656	T	0.56	.	19.5192	0.95179	0.0:0.0:1.0:0.0	.	1018;971	Q4LE79;P15924	.;DESP_HUMAN	V	971;971;776	ENSP00000369129:G971V;ENSP00000396591:G971V	ENSP00000369129:G971V	G	+	2	0	DSP	7523045	1.000000	0.71417	0.991000	0.47740	0.776000	0.43924	9.476000	0.97823	2.611000	0.88343	0.655000	0.94253	GGA		0.418	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		44	514	1	0	2.43139e-17	1	2.68212e-17	44	514				
STRN4	29888	broad.mit.edu	37	19	47223960	47223960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47223960G>A	ENST00000263280.6	-	17	2210	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	STRN4_ENST00000391910.3_Missense_Mutation_p.R728C|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	721						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.R721C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCTTCTTGCGGTGGGCCGTG	0.627																																						ENST00000391910.3																			1	Substitution - Missense(1)	p.R721C(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2182-2184)Cgc>Tgc		striatin, calmodulin binding protein 4							160.0	112.0	128.0					19																	47223960		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47223960G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2161C>T	19.37:g.47223960G>A	ENSP00000263280:p.Arg721Cys					STRN4_ENST00000263280.6_Missense_Mutation_p.R721C|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C	p.R728C			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	17	2632	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	721					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.2182C>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082450	0.76528	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.67865	-0.29;-0.24;-0.12	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.85120	0.5624	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.95	D	0.88983	0.3409	10	0.87932	D	0	-21.4832	16.0134	0.80420	0.0:0.0:1.0:0.0	.	728;721	F8VYA6;Q9NRL3	.;STRN4_HUMAN	C	728;721;602	ENSP00000375777:R728C;ENSP00000263280:R721C;ENSP00000440901:R602C	ENSP00000263280:R721C	R	-	1	0	STRN4	51915800	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.632000	0.67819	2.294000	0.77228	0.462000	0.41574	CGC		0.627	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			42	210	0	0	0	1	0	42	210				
POC1B	282809	broad.mit.edu	37	12	89885781	89885781	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89885781T>C	ENST00000313546.3	-	4	512	c.384A>G	c.(382-384)gtA>gtG	p.V128V	POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	128					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACATGCTCCATACTTTTATGG	0.418																																						ENST00000313546.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(382-384)gtA>gtG		POC1 centriolar protein B							130.0	126.0	127.0					12																	89885781		2203	4300	6503	SO:0001819	synonymous_variant	282809							g.chr12:89885781T>C	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.384A>G	12.37:g.89885781T>C						POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000393179.4_5'UTR	p.V128V	NM_172240.2	NP_758440.1					4	512	-								G3V1X0	Silent	SNP	ENST00000313546.3	37	c.384A>G	CCDS31869.1																																																																																				0.418	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		29	321	0	0	0	1	0	29	321				
KLHL40	131377	broad.mit.edu	37	3	42729786	42729786	+	Silent	SNP	C	C	T	rs573886282	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42729786C>T	ENST00000287777.4	+	2	1405	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	435					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											TCATGTGCTACGACAGGCTGT	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		11786	0.0		0.0	False		,,,				2504	0.002					ENST00000287777.4																			0											c.(1303-1305)taC>taT		kelch-like family member 40							40.0	37.0	38.0					3																	42729786		2202	4300	6502	SO:0001819	synonymous_variant	131377							g.chr3:42729786C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1305C>T	3.37:g.42729786C>T							p.Y435Y	NM_152393.2	NP_689606.2					2	1405	+								Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.1305C>T	CCDS2703.1																																																																																				0.642	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		64	254	0	0	0	1	0	64	254				
HK1	3098	broad.mit.edu	37	10	71129326	71129326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71129326G>A	ENST00000359426.6	+	7	925	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R273Q|HK1_ENST00000360289.2_Missense_Mutation_p.R262Q|HK1_ENST00000448642.2_Missense_Mutation_p.R309Q|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	274	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GAAGACATCCGGACAGAGTTT	0.493																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(925-927)cGg>cAg		hexokinase 1							111.0	104.0	106.0					10																	71129326		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71129326G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.821G>A	10.37:g.71129326G>A	ENSP00000352398:p.Arg274Gln					HK1_ENST00000298649.3_Missense_Mutation_p.R273Q|HK1_ENST00000359426.6_Missense_Mutation_p.R274Q|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R262Q	p.R309Q			P19367	HXK1_HUMAN			12	1315	+			274			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.926G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595268	0.66219	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.34	5.34	0.76211	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.70842	2.15	0.80722	D	1	D;D;D;D;P;P	0.89917	0.976;0.976;1.0;0.979;0.927;0.875	P;B;D;B;B;B	0.71870	0.501;0.397;0.975;0.273;0.245;0.098	D	0.97892	1.0298	10	0.49607	T	0.09	-0.0783	19.0383	0.92987	0.0:0.0:1.0:0.0	.	274;274;273;309;278;262	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	Q	262;309;278;273;273;274;274	ENSP00000353433:R262Q;ENSP00000402103:R309Q;ENSP00000384774:R278Q;ENSP00000415949:R273Q;ENSP00000298649:R273Q;ENSP00000352398:R274Q	ENSP00000298649:R273Q	R	+	2	0	HK1	70799332	1.000000	0.71417	0.979000	0.43373	0.152000	0.21847	7.863000	0.87023	2.499000	0.84300	0.563000	0.77884	CGG		0.493	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		57	213	0	0	0	1	0	57	213				
NT5C	30833	broad.mit.edu	37	17	73126651	73126651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73126651G>A	ENST00000245552.2	-	5	625	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	NT5C_ENST00000582170.1_Missense_Mutation_p.A178V|NT5C_ENST00000582160.1_Silent_p.L94L|NT5C_ENST00000579082.1_5'Flank	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	180					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	CAGGAGAGCAGCCGTCTCCTT	0.617											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000582170.1																			0											c.(532-534)gCt>gTt		5', 3'-nucleotidase, cytosolic							75.0	71.0	72.0					17																	73126651		2203	4300	6503	SO:0001819	synonymous_variant	30833				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding	g.chr17:73126651G>A	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"""5' nucleotidase, deoxy (pyrimidine), cytosolic type C"", ""uridine 5-prime monophosphate hydrolase 2"""	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.538C>T	17.37:g.73126651G>A			OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	NT5C_ENST00000582160.1_Silent_p.L94L|NT5C_ENST00000245552.2_Silent_p.L180L	p.A178V			Q8TCD5	NT5C_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		5	569	-	all_lung(278;0.14)|Lung NSC(278;0.168)		0					Q96HS6|Q9NP82	Missense_Mutation	SNP	ENST00000245552.2	37	c.533C>T	CCDS11715.1																																																																																				0.617	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			119	428	0	0	0	1	0	119	428				
NBEAL2	23218	broad.mit.edu	37	3	47049628	47049628	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47049628C>T	ENST00000450053.3	+	50	7850	c.7671C>T	c.(7669-7671)agC>agT	p.S2557S	NBEAL2_ENST00000292309.5_Silent_p.S2373S|NBEAL2_ENST00000383740.2_Silent_p.S806S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2557					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGCAGTGAGCTGTGTGGCCA	0.587																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(7669-7671)agC>agT		neurobeachin-like 2							93.0	93.0	93.0					3																	47049628		2174	4279	6453	SO:0001819	synonymous_variant	23218						binding	g.chr3:47049628C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7671C>T	3.37:g.47049628C>T						NBEAL2_ENST00000383740.2_Silent_p.S806S|NBEAL2_ENST00000292309.5_Silent_p.S2373S	p.S2557S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	50	7850	+		Acute lymphoblastic leukemia(5;0.0534)	2557					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.7671C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928973	0.18131	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.16	0.958	0.19619	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	.	3.9483	0.09358	0.0:0.4167:0.1761:0.4072	.	.	.	.	V	1845	.	.	A	+	2	0	NBEAL2	47024632	0.003000	0.15002	1.000000	0.80357	0.990000	0.78478	-1.291000	0.02775	0.656000	0.30886	0.561000	0.74099	GCT		0.587	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		29	167	0	0	0	1	0	29	167				
ZNF837	116412	broad.mit.edu	37	19	58879442	58879442	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58879442C>T	ENST00000427624.2	-	3	1580	c.1258G>A	c.(1258-1260)Gcg>Acg	p.A420T	ZNF837_ENST00000597582.1_Missense_Mutation_p.A420T|CTD-2619J13.3_ENST00000599889.1_RNA			Q96EG3	ZN837_HUMAN	zinc finger protein 837	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|skin(1)	2						AGTGGGCACGCGTAGGGCTTG	0.701																																						ENST00000427624.2																			0				endometrium(1)|skin(1)	2						c.(1258-1260)Gcg>Acg		zinc finger protein 837							19.0	21.0	20.0					19																	58879442		692	1590	2282	SO:0001583	missense	116412				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58879442C>T	BC012365	CCDS46216.1	19q13.43	2013-01-08			ENSG00000152475	ENSG00000152475		"""Zinc fingers, C2H2-type"""	25164	protein-coding gene	gene with protein product						12477932	Standard	NM_138466		Approved		uc002qsl.4	Q96EG3		ENST00000427624.2:c.1258G>A	19.37:g.58879442C>T	ENSP00000405699:p.Ala420Thr					ZNF837_ENST00000597582.1_Missense_Mutation_p.A420T	p.A420T			Q96EG3	ZN837_HUMAN			3	1580	-			420						Missense_Mutation	SNP	ENST00000427624.2	37	c.1258G>A	CCDS46216.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049623	0.36181	.	.	ENSG00000152475	ENST00000427624	T	0.07567	3.18	0.97	-0.13	0.13498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.04705	-0.18	0.22317	N	0.999203	P	0.36874	0.572	B	0.17979	0.02	T	0.41070	-0.9529	9	0.51188	T	0.08	.	4.5218	0.11962	0.0:0.3686:0.0:0.6314	.	420	Q96EG3	ZN837_HUMAN	T	420	ENSP00000405699:A420T	ENSP00000405699:A420T	A	-	1	0	ZNF837	63571254	0.000000	0.05858	0.952000	0.39060	0.571000	0.35966	-2.931000	0.00688	-0.011000	0.14247	-0.373000	0.07131	GCG		0.701	ZNF837-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466962.1	NM_138466		4	21	0	0	0	1	0	4	21				
MCL1	4170	broad.mit.edu	37	1	150551721	150551721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150551721G>A	ENST00000369026.2	-	1	345	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Silent_p.L96L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	96					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGAAAAGCAGCCTCGCGGGG	0.741																																						ENST00000369026.2																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(286-288)Ctg>Ttg		myeloid cell leukemia sequence 1 (BCL2-related)							4.0	6.0	5.0					1																	150551721		1735	3755	5490	SO:0001819	synonymous_variant	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551721G>A	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.286C>T	1.37:g.150551721G>A						MCL1_ENST00000307940.3_Silent_p.L96L	p.L96L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	345	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		96					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	37	c.286C>T	CCDS957.1																																																																																				0.741	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		19	61	0	0	0	1	0	19	61				
KRTAP10-8	386681	broad.mit.edu	37	21	46032698	46032698	+	Silent	SNP	C	C	A	rs149614965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46032698C>A	ENST00000334662.2	+	1	703	c.681C>A	c.(679-681)tcC>tcA	p.S227S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	227	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ctgtcccctcctgttgtgtcc	0.711																																						ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(679-681)tcC>tcA		keratin associated protein 10-8							72.0	80.0	77.0					21																	46032698		2203	4300	6503	SO:0001819	synonymous_variant	386681					keratin filament		g.chr21:46032698C>A	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.681C>A	21.37:g.46032698C>A						TSPEAR_ENST00000323084.4_Intron	p.S227S	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	703	+			227			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Silent	SNP	ENST00000334662.2	37	c.681C>A	CCDS13713.1																																																																																				0.711	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		54	441	1	0	1.07234e-20	1	1.20343e-20	54	441				
PEAK1	79834	broad.mit.edu	37	15	77407411	77407411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77407411G>A	ENST00000560626.2	-	7	4803	c.4328C>T	c.(4327-4329)tCc>tTc	p.S1443F	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1443F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1443	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCTTTCTGGGATGATGCTGC	0.498																																						ENST00000560626.2																			0											c.(4327-4329)tCc>tTc		pseudopodium-enriched atypical kinase 1							155.0	147.0	149.0					15																	77407411		2043	4190	6233	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407411G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4328C>T	15.37:g.77407411G>A	ENSP00000452796:p.Ser1443Phe					PEAK1_ENST00000312493.4_Missense_Mutation_p.S1443F	p.S1443F			Q9H792	PEAK1_HUMAN			7	4803	-			1443			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4328C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108844	0.37242	.	.	ENSG00000173517	ENST00000312493	T	0.69806	-0.43	4.81	4.81	0.61882	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.484267	0.17181	U	0.183874	T	0.56992	0.2023	N	0.08118	0	0.37053	D	0.897708	D	0.56287	0.975	P	0.48334	0.574	T	0.70270	-0.4918	10	0.66056	D	0.02	-6.4132	18.2658	0.90052	0.0:0.0:1.0:0.0	.	1443	Q9H792	PEAK1_HUMAN	F	1443	ENSP00000309230:S1443F	ENSP00000309230:S1443F	S	-	2	0	AC087465.1	75194466	0.979000	0.34478	0.999000	0.59377	0.114000	0.19823	4.304000	0.59104	2.417000	0.82017	0.561000	0.74099	TCC		0.498	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			148	683	0	0	0	1	0	148	683				
WDR3	10885	broad.mit.edu	37	1	118495213	118495213	+	Silent	SNP	G	G	A	rs139563237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118495213G>A	ENST00000349139.5	+	19	2126	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	693						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGTATCATCGTCCCATGACA	0.413																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(2077-2079)tcG>tcA		WD repeat domain 3		G		1,4405	2.1+/-5.4	0,1,2202	103.0	103.0	103.0		2079	-11.1	0.4	1	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WDR3	NM_006784.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		693/944	118495213	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118495213G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2079G>A	1.37:g.118495213G>A							p.S693S	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	19	2126	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	693						Silent	SNP	ENST00000349139.5	37	c.2079G>A	CCDS898.1																																																																																				0.413	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		115	411	0	0	0	1	0	115	411				
KIF5C	3800	broad.mit.edu	37	2	149866864	149866864	+	Splice_Site	SNP	C	C	T	rs200547595		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149866864C>T	ENST00000435030.1	+	24	3134	c.2766C>T	c.(2764-2766)atC>atT	p.I922I	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Splice_Site_p.I827I|KIF5C_ENST00000397413.1_Splice_Site_p.I690I			O60282	KIF5C_HUMAN	kinesin family member 5C	922	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAGCCCAGATCGGTACGTGCG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18032	0.0		0.001	False		,,,				2504	0.0					ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e24+1		kinesin family member 5C		C		0,4270		0,0,2135	20.0	23.0	22.0		2477	-10.6	0.1	2		22	2,8492		0,2,4245	yes	coding-synonymous-near-splice	KIF5C	NM_004522.1		0,2,6380	TT,TC,CC		0.0235,0.0,0.0157		922/958	149866864	2,12762	2135	4247	6382	SO:0001630	splice_region_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149866864C>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2767+1C>T	2.37:g.149866864C>T						KIF5C_ENST00000414838.2_Splice_Site_p.I827_splice|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Splice_Site_p.I690_splice	p.I922_splice			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	24	3134	+			922			Globular.		O95079|Q2YDC5	Splice_Site	SNP	ENST00000435030.1	37	c.2767_splice																																																																																					0.607	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	Silent	16	38	0	0	0	1	0	16	38				
DCLRE1B	64858	broad.mit.edu	37	1	114448377	114448377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114448377C>T	ENST00000369563.3	+	1	615	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	AP4B1_ENST00000256658.4_5'Flank|AP4B1_ENST00000369569.1_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	57					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCCCACCTCTTGCATCG	0.587								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(169-171)Ctc>Ttc	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							50.0	48.0	48.0					1																	114448377		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114448377C>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.169C>T	1.37:g.114448377C>T	ENSP00000358576:p.Leu57Phe		OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1458	DCLRE1B_ENST00000466480.1_3'UTR	p.L57F	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	615	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	57					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.169C>T	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874689	0.91664	.	.	ENSG00000118655	ENST00000369563	T	0.77750	-1.12	5.56	5.56	0.83823	Beta-lactamase-like (1);	0.059585	0.64402	D	0.000002	D	0.85725	0.5763	M	0.84846	2.72	0.51767	D	0.999937	D	0.89917	1.0	D	0.77557	0.99	D	0.87258	0.2277	10	0.62326	D	0.03	-20.3906	10.9353	0.47241	0.1448:0.7154:0.1397:0.0	.	57	Q9H816	DCR1B_HUMAN	F	57	ENSP00000358576:L57F	ENSP00000358576:L57F	L	+	1	0	DCLRE1B	114249900	0.895000	0.30542	0.998000	0.56505	0.891000	0.51852	1.808000	0.38912	2.609000	0.88269	0.561000	0.74099	CTC		0.587	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		49	226	0	0	0	1	0	49	226				
GRM5	2915	broad.mit.edu	37	11	88242512	88242512	+	Missense_Mutation	SNP	C	C	T	rs199674837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88242512C>T	ENST00000305447.4	-	9	3036	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	GRM5_ENST00000305432.5_Missense_Mutation_p.A931T|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T|GRM5_ENST00000418177.2_Missense_Mutation_p.A963T|GRM5-AS1_ENST00000531994.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	963					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCAGCGCCAGCGCCCAGGCCA	0.726																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2887-2889)Gct>Act		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						15.0	17.0	16.0					11																	88242512		1999	3959	5958	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242512C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2887G>A	11.37:g.88242512C>T	ENSP00000306138:p.Ala963Thr					GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Missense_Mutation_p.A931T|GRM5_ENST00000305447.4_Missense_Mutation_p.A963T|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T|GRM5-AS1_ENST00000526448.1_RNA	p.A963T			P41594	GRM5_HUMAN			10	3254	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	963					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2887G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	3.302	-0.142761	0.06669	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.87966	-2.29;-2.32;-2.32;-2.29	3.95	2.03	0.26663	.	.	.	.	.	T	0.68174	0.2972	N	0.08118	0	0.09310	N	1	B;B	0.28208	0.005;0.203	B;B	0.15052	0.002;0.012	T	0.55335	-0.8157	8	.	.	.	.	4.7756	0.13178	0.2113:0.6773:0.0:0.1114	.	931;963	P41594-2;P41594	.;GRM5_HUMAN	T	963;931;931;963	ENSP00000402912:A963T;ENSP00000405690:A931T;ENSP00000305905:A931T;ENSP00000306138:A963T	.	A	-	1	0	GRM5	87882160	.	.	0.110000	0.21437	0.016000	0.09150	.	.	0.600000	0.29862	0.563000	0.77884	GCT		0.726	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		35	156	0	0	0	1	0	35	156				
SYNE1	23345	broad.mit.edu	37	6	152706910	152706910	+	Missense_Mutation	SNP	C	C	T	rs371684437		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152706910C>T	ENST00000367255.5	-	55	9152	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2851					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTGAACTCGTGGACCGCA	0.393										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8551-8553)Gag>Aag		spectrin repeat containing, nuclear envelope 1		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	189.0	177.0	181.0		8572,8551	5.5	0.8	6		181	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2858/8750,2851/8798	152706910	1,13005	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152706910C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8551G>A	6.37:g.152706910C>T	ENSP00000356224:p.Glu2851Lys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K	p.E2851K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	55	9152	-		Ovarian(120;0.0955)	2851					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8551G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991900	0.54041	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56941	0.52;0.51;0.43;0.52;0.62	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	T	0.62744	0.2453	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.69479	0.883;0.922;0.922;0.964	T	0.56390	-0.7987	10	0.15952	T	0.53	.	19.4115	0.94675	0.0:1.0:0.0:0.0	.	2834;2851;2851;2858	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2851;2858;2851;2858;2890	ENSP00000356224:E2851K;ENSP00000396024:E2858K;ENSP00000265368:E2851K;ENSP00000390975:E2858K;ENSP00000341887:E2890K	ENSP00000265368:E2851K	E	-	1	0	SYNE1	152748603	1.000000	0.71417	0.840000	0.33206	0.050000	0.14768	7.463000	0.80869	2.599000	0.87857	0.591000	0.81541	GAG		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		98	534	0	0	0	1	0	98	534				
ANKRD13B	124930	broad.mit.edu	37	17	27939445	27939445	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27939445C>T	ENST00000394859.3	+	12	1438	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	428						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						ACATCCTCAACGCCCGCATCA	0.637																																						ENST00000394859.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1282-1284)aaC>aaT		ankyrin repeat domain 13B							41.0	42.0	42.0					17																	27939445		2203	4299	6502	SO:0001819	synonymous_variant	124930							g.chr17:27939445C>T	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1284C>T	17.37:g.27939445C>T						RP11-68I3.2_ENST00000581474.1_RNA	p.N428N	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			12	1438	+			428					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.1284C>T	CCDS11251.1																																																																																				0.637	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		13	113	0	0	0	1	0	13	113				
ZNF671	79891	broad.mit.edu	37	19	58232036	58232036	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232036T>G	ENST00000317398.6	-	4	1513	c.1418A>C	c.(1417-1419)cAc>cCc	p.H473P	ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCTCCAGAGTGAACTTTCTG	0.473																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1417-1419)cAc>cCc		zinc finger protein 671							122.0	114.0	117.0					19																	58232036		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232036T>G		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1418A>C	19.37:g.58232036T>G	ENSP00000321848:p.His473Pro					ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P|AC003006.7_ENST00000599221.1_Intron	p.H473P	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1513	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	473					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1418A>C	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844404	0.51164	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.67698	-0.28;-0.28	1.73	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82522	0.5055	M	0.92880	3.355	0.37259	D	0.906888	D	0.76494	0.999	D	0.91635	0.999	D	0.84303	0.0506	9	0.87932	D	0	.	7.4287	0.27115	0.0:0.0:0.0:1.0	.	473	Q8TAW3	ZN671_HUMAN	P	473;375	ENSP00000321848:H473P;ENSP00000338670:H375P	ENSP00000321848:H473P	H	-	2	0	ZNF671	62923848	1.000000	0.71417	0.024000	0.17045	0.981000	0.71138	6.306000	0.72810	1.042000	0.40150	0.383000	0.25322	CAC		0.473	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		112	476	0	0	0	1	0	112	476				
PTK2	5747	broad.mit.edu	37	8	141799614	141799614	+	Missense_Mutation	SNP	C	C	T	rs538944133		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799614C>T	ENST00000522684.1	-	14	1365	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N|PTK2_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	379					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTGCTTTTCGCTGTTGGCCAA	0.552																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1135-1137)aGc>aAc		protein tyrosine kinase 2							222.0	199.0	207.0					8																	141799614		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141799614C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1136G>A	8.37:g.141799614C>T	ENSP00000429911:p.Ser379Asn					PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N|PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N|PTK2_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N	p.S379N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		14	1365	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	379					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1136G>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303527	0.23736	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.94;-0.95;-0.96;-0.95;-0.9;-0.95;-0.91;-0.95;-0.89	5.87	3.69	0.42338	.	0.161248	0.64402	N	0.000002	T	0.49389	0.1554	N	0.11000	0.08	0.28552	N	0.911562	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001;0.0;0.0;0.0	T	0.31586	-0.9938	10	0.16420	T	0.52	.	6.8538	0.24030	0.0:0.7674:0.0:0.2326	.	379;40;286;379;401;379;290;40	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	N	379;379;423;379;289;379;286;40;44;379;40;423;43;197	ENSP00000429911:S379N;ENSP00000438009:S379N;ENSP00000429082:S423N;ENSP00000429474:S379N;ENSP00000378644:S379N;ENSP00000428492:S44N;ENSP00000341189:S379N;ENSP00000445742:S40N;ENSP00000429129:S423N;ENSP00000430603:S43N	ENSP00000341189:S379N	S	-	2	0	PTK2	141868796	0.889000	0.30405	0.995000	0.50966	0.969000	0.65631	1.303000	0.33470	1.599000	0.50093	0.655000	0.94253	AGC		0.552	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		172	785	0	0	0	1	0	172	785				
GGA3	23163	broad.mit.edu	37	17	73234437	73234437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73234437C>T	ENST00000245541.6	-	17	2311	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	GGA3_ENST00000351904.7_Missense_Mutation_p.A666T|GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000582486.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	699	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCCCCCAGGGCGAAGGTCAGC	0.627											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245541.6																			0				breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(2095-2097)Gcc>Acc		golgi-associated, gamma adaptin ear containing, ARF binding protein 3							71.0	60.0	64.0					17																	73234437		2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73234437C>T	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.2095G>A	17.37:g.73234437C>T	ENSP00000245541:p.Ala699Thr		OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1143	GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000351904.7_Missense_Mutation_p.A666T	p.A699T	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		17	2311	-			699			GAE.		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.2095G>A	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634461	0.14322	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.38887	1.11;1.11;1.11	5.08	4.08	0.47627	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.463089	0.25601	N	0.029542	T	0.09113	0.0225	N	0.00151	-1.98	0.80722	D	1	B;B	0.20368	0.044;0.031	B;B	0.10450	0.003;0.005	T	0.19745	-1.0296	10	0.06757	T	0.87	-8.533	9.4961	0.38989	0.0:0.8053:0.0:0.1947	.	666;699	Q9NZ52-2;Q9NZ52	.;GGA3_HUMAN	T	699;666;627;577	ENSP00000245541:A699T;ENSP00000326575:A666T;ENSP00000446421:A577T	ENSP00000245541:A699T	A	-	1	0	GGA3	70746032	0.908000	0.30866	0.995000	0.50966	0.983000	0.72400	1.007000	0.29860	1.293000	0.44690	0.563000	0.77884	GCC		0.627	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		59	234	0	0	0	1	0	59	234				
GRHL2	79977	broad.mit.edu	37	8	102585977	102585977	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102585977A>C	ENST00000251808.3	+	6	1154	c.816A>C	c.(814-816)aaA>aaC	p.K272N	GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	272					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTCAACAAAGGACAGTTCT	0.502																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(814-816)aaA>aaC		grainyhead-like 2 (Drosophila)							87.0	73.0	78.0					8																	102585977		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102585977A>C	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.816A>C	8.37:g.102585977A>C	ENSP00000251808:p.Lys272Asn					GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	p.K272N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		6	1154	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		272					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.816A>C	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778126	0.70107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.26957	1.7;1.7	5.8	0.79	0.18613	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.875;0.999	T	0.56306	-0.8001	10	0.87932	D	0	-27.0773	11.1202	0.48284	0.7395:0.0:0.2605:0.0	.	272;272	B4DL28;Q6ISB3	.;GRHL2_HUMAN	N	272;256;272	ENSP00000251808:K272N;ENSP00000379260:K256N	ENSP00000251808:K272N	K	+	3	2	GRHL2	102655153	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	1.433000	0.34947	-0.346000	0.08312	-1.162000	0.01777	AAA		0.502	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		47	218	0	0	0	1	0	47	218				
RET	5979	broad.mit.edu	37	10	43615116	43615116	+	Missense_Mutation	SNP	C	C	T	rs377767424		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43615116C>T	ENST00000355710.3	+	14	2762	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	RET_ENST00000340058.5_Missense_Mutation_p.R844W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	844	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> L (in MTC; familial form; dbSNP:rs55947360). {ECO:0000269|PubMed:10826520, ECO:0000269|PubMed:17344846}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCGGATGAGCGGGCCCTCAC	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM066982	RET	M		c.(2530-2532)Cgg>Tgg		ret proto-oncogene	Sunitinib(DB01268)						47.0	43.0	44.0					10																	43615116		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43615116C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2530C>T	10.37:g.43615116C>T	ENSP00000347942:p.Arg844Trp					RET_ENST00000340058.5_Missense_Mutation_p.R844W	p.R844W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			14	2762	+		Ovarian(717;0.0423)	844		R -> L (in MTC; familial form; dbSNP:rs55947360).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2530C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889118	0.72524	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.83335	-1.71;-1.71	5.36	-0.803	0.10886	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89496	0.3760	10	0.87932	D	0	.	16.3483	0.83171	0.6157:0.3843:0.0:0.0	.	590;844;844	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	W	844	ENSP00000347942:R844W;ENSP00000344798:R844W	ENSP00000344798:R844W	R	+	1	2	RET	42935122	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	1.985000	0.40668	0.186000	0.20125	0.313000	0.20887	CGG		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		43	280	0	0	0	1	0	43	280				
ZFYVE20	64145	broad.mit.edu	37	3	15127405	15127405	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15127405A>G	ENST00000253699.3	-	6	966	c.353T>C	c.(352-354)gTt>gCt	p.V118A	ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	118	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GACTTCCACAACATAGTGGTC	0.358																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(352-354)gTt>gCt		zinc finger, FYVE domain containing 20							178.0	195.0	189.0					3																	15127405		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15127405A>G	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.353T>C	3.37:g.15127405A>G	ENSP00000253699:p.Val118Ala					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A	p.V118A	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			6	966	-			118			Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.353T>C	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.411677	0.62399	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.70516	0.79;0.79;-0.49	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	N	0.17901	0.54	0.80722	D	1	D;P	0.76494	0.999;0.911	D;P	0.76071	0.987;0.532	T	0.70117	-0.4960	10	0.20046	T	0.44	-15.8092	16.2526	0.82494	1.0:0.0:0.0:0.0	.	118;118	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	A	118	ENSP00000253699:V118A;ENSP00000422551:V118A;ENSP00000391039:V118A	ENSP00000253699:V118A	V	-	2	0	ZFYVE20	15102409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.543000	0.90651	2.241000	0.73720	0.482000	0.46254	GTT		0.358	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		179	909	0	0	0	1	0	179	909				
BOD1L1	259282	broad.mit.edu	37	4	13606557	13606557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13606557C>A	ENST00000040738.5	-	10	2102	c.1967G>T	c.(1966-1968)aGa>aTa	p.R656I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	656	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										AGATGTCCGTCTTTTATGTTC	0.418																																						ENST00000040738.5																			0											c.(1966-1968)aGa>aTa		biorientation of chromosomes in cell division 1-like 1							155.0	155.0	155.0					4																	13606557		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13606557C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1967G>T	4.37:g.13606557C>A	ENSP00000040738:p.Arg656Ile						p.R656I	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2102	-			656			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.1967G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588531	0.66105	.	.	ENSG00000038219	ENST00000040738	T	0.17854	2.25	5.71	5.71	0.89125	.	0.000000	0.47455	D	0.000232	T	0.29389	0.0732	L	0.29908	0.895	0.46901	D	0.999242	D	0.89917	1.0	D	0.75484	0.986	T	0.01136	-1.1440	10	0.59425	D	0.04	-11.457	13.1019	0.59224	0.0:0.9265:0.0:0.0735	.	656	Q8NFC6	BOD1L_HUMAN	I	656	ENSP00000040738:R656I	ENSP00000040738:R656I	R	-	2	0	BOD1L	13215655	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	3.125000	0.50469	2.694000	0.91930	0.563000	0.77884	AGA		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		30	853	1	0	7.38237e-10	1	7.79401e-10	30	853				
NMT2	9397	broad.mit.edu	37	10	15161458	15161458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15161458G>A	ENST00000378165.4	-	9	1134	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	352					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATTAATTCTCGAACTGATTTG	0.433																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(1054-1056)Cga>Tga		N-myristoyltransferase 2							195.0	177.0	183.0					10																	15161458		2203	4300	6503	SO:0001587	stop_gained	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15161458G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1054C>T	10.37:g.15161458G>A	ENSP00000367407:p.Arg352*					NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*	p.R352*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			9	1134	-			352					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Nonsense_Mutation	SNP	ENST00000378165.4	37	c.1054C>T	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	39	7.418072	0.98272	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.69	3.78	0.43462	.	0.410282	0.26684	N	0.023024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3702	12.722	0.57147	0.0:0.1261:0.7426:0.1313	.	.	.	.	X	352;339;383;164;339	.	.	R	-	1	2	NMT2	15201464	1.000000	0.71417	0.821000	0.32701	0.980000	0.70556	4.186000	0.58337	0.712000	0.32039	0.655000	0.94253	CGA		0.433	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		69	314	0	0	0	1	0	69	314				
TBX19	9095	broad.mit.edu	37	1	168260462	168260462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168260462C>T	ENST00000367821.3	+	2	319	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	90					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GTACTCCCTCCTGCTGGACTT	0.552																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(268-270)Ctg>Ttg		T-box 19							134.0	120.0	125.0					1																	168260462		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168260462C>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.268C>T	1.37:g.168260462C>T							p.L90L	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			2	319	+	all_hematologic(923;0.215)		90					Q52M53	Silent	SNP	ENST00000367821.3	37	c.268C>T	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	9.205	1.029415	0.19512	.	.	ENSG00000143178	ENST00000431969	.	.	.	4.99	4.08	0.47627	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.53041	-0.8494	3	.	.	.	.	13.3921	0.60830	0.0:0.9236:0.0:0.0764	.	.	.	.	L	22	.	.	P	+	2	0	TBX19	166527086	0.989000	0.36119	0.991000	0.47740	0.999000	0.98932	1.767000	0.38501	1.341000	0.45600	0.655000	0.94253	CCT		0.552	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		235	718	0	0	0	1	0	235	718				
RLBP1	6017	broad.mit.edu	37	15	89758374	89758374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89758374G>T	ENST00000268125.5	-	6	881	c.442C>A	c.(442-444)Ctc>Atc	p.L148I		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	148	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CGACTAGAGAGGACACCAGGG	0.542																																						ENST00000268125.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18						c.(442-444)Ctc>Atc		retinaldehyde binding protein 1	Vitamin A(DB00162)						125.0	114.0	118.0					15																	89758374		2200	4299	6499	SO:0001583	missense	6017				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	g.chr15:89758374G>T	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.442C>A	15.37:g.89758374G>T	ENSP00000268125:p.Leu148Ile						p.L148I	NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN			6	881	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		148			CRAL-TRIO.		B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	c.442C>A	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362622	0.82353	.	.	ENSG00000140522	ENST00000268125	T	0.74737	-0.87	4.8	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87315	0.2314	10	0.72032	D	0.01	-14.822	11.386	0.49785	0.0835:0.0:0.9165:0.0	.	148	P12271	RLBP1_HUMAN	I	148	ENSP00000268125:L148I	ENSP00000268125:L148I	L	-	1	0	RLBP1	87559378	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.433000	0.80362	2.229000	0.72834	0.561000	0.74099	CTC		0.542	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		122	481	1	0	1.45844e-59	1	1.83211e-59	122	481				
PMS2	5395	broad.mit.edu	37	7	6026722	6026722	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6026722G>A	ENST00000265849.7	-	11	1779	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	PMS2_ENST00000441476.2_Silent_p.T452T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.T558T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	558					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATTTACATCCGGTATCTTCCT	0.448			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1672-1674)acC>acT	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							115.0	123.0	120.0					7																	6026722		2203	4300	6503	SO:0001819	synonymous_variant	5395	Turcot 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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6026722G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1674C>T	7.37:g.6026722G>A						PMS2_ENST00000406569.3_Silent_p.T558T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.T452T|PMS2_ENST00000469652.1_Intron	p.T558T	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1779	-		Ovarian(82;0.0694)	558					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	c.1674C>T	CCDS5343.1																																																																																				0.448	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		37	1112	0	0	0	1	0	37	1112				
SYT4	6860	broad.mit.edu	37	18	40853833	40853833	+	Silent	SNP	C	C	T	rs138240289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853833C>T	ENST00000255224.3	-	2	929	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SYT4_ENST00000590752.1_Silent_p.S169S|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	187	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGAGGTCATCGACTGCTCAT	0.443																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(559-561)tcG>tcA		synaptotagmin IV		C		0,4406		0,0,2203	72.0	71.0	72.0		561	-11.7	0.0	18	dbSNP_134	72	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	SYT4	NM_020783.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		187/426	40853833	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853833C>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.561G>A	18.37:g.40853833C>T						SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.S169S	p.S187S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	929	-			187			C2 1.|Phospholipid binding (Probable).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.561G>A	CCDS11922.1																																																																																				0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		72	256	0	0	0	1	0	72	256				
AMER3	205147	broad.mit.edu	37	2	131521670	131521670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131521670C>T	ENST00000423981.1	+	2	2135	c.2025C>T	c.(2023-2025)ggC>ggT	p.G675G	AMER3_ENST00000321420.4_Silent_p.G675G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	675					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGCTGGCAGGCTGTGTGGCCC	0.657																																						ENST00000423981.1																			0											c.(2023-2025)ggC>ggT		APC membrane recruitment protein 3							21.0	23.0	23.0					2																	131521670		2201	4299	6500	SO:0001819	synonymous_variant	205147							g.chr2:131521670C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2025C>T	2.37:g.131521670C>T						AMER3_ENST00000321420.4_Silent_p.G675G	p.G675G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2135	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.2025C>T	CCDS2164.1																																																																																				0.657	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		14	85	0	0	0	1	0	14	85				
KCNJ12	3768	broad.mit.edu	37	17	21319408	21319408	+	Missense_Mutation	SNP	G	G	A	rs145578286	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319408G>A	ENST00000583088.1	+	3	1649	c.754G>A	c.(754-756)Gat>Aat	p.D252N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D252N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	252					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GATCGACATCGATGTGGGCTT	0.627										Prostate(3;0.18)			.|||	6	0.00119808	0.0008	0.0014	5008	,	,		41268	0.0		0.004	False		,,,				2504	0.0					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(754-756)Gat>Aat		potassium inwardly-rectifying channel, subfamily J, member 12		G	ASN/ASP	0,4406		0,0,2203	133.0	97.0	109.0		754	4.4	0.1	17	dbSNP_134	109	9,8591	7.1+/-27.0	0,9,4291	yes	missense	KCNJ12	NM_021012.4	23	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	benign	252/434	21319408	9,12997	2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319408G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.754G>A	17.37:g.21319408G>A	ENSP00000463778:p.Asp252Asn	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.D252N	p.D252N	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1649	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.754G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	4.144	0.025138	0.08054	0.0	0.001047	ENSG00000184185	ENST00000331718	D	0.93604	-3.25	5.42	4.44	0.53790	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.054033	0.64402	D	0.000001	T	0.79896	0.4525	N	0.03608	-0.345	0.41262	D	0.98678	B	0.13145	0.007	B	0.10450	0.005	T	0.72950	-0.4136	10	0.02654	T	1	.	9.037	0.36293	0.0735:0.0:0.778:0.1485	.	252	Q14500	IRK12_HUMAN	N	252	ENSP00000328150:D252N	ENSP00000328150:D252N	D	+	1	0	KCNJ12	21260001	1.000000	0.71417	0.112000	0.21494	0.991000	0.79684	4.590000	0.61013	1.279000	0.44446	0.650000	0.86243	GAT		0.627	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		34	363	0	0	0	1	0	34	363				
PLXNB3	5365	broad.mit.edu	37	X	153037356	153037356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153037356C>T	ENST00000361971.5	+	15	2669	c.2555C>T	c.(2554-2556)gCc>gTc	p.A852V	PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A875V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	852	IPT/TIG 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCTTGGCCCTCACCATC	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2623-2625)gCc>gTc		plexin B3							30.0	24.0	26.0					X																	153037356		2179	4285	6464	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153037356C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2555C>T	X.37:g.153037356C>T	ENSP00000355378:p.Ala852Val					PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A852V|PLXNB3_ENST00000538543.1_3'UTR	p.A875V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			16	2895	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		852			IPT/TIG 1.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2624C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	0.573	-0.840269	0.02692	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.96	3.16	0.36331	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.345193	0.28109	N	0.016566	T	0.54271	0.1848	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16802	0.002;0.019;0.002;0.002	B;B;B;B	0.18871	0.006;0.023;0.002;0.006	T	0.40079	-0.9582	10	0.27785	T	0.31	.	9.0453	0.36343	0.0:0.8066:0.0:0.1934	.	505;534;875;852	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	V	875;852;505;462	ENSP00000442736:A875V;ENSP00000355378:A852V;ENSP00000445569:A505V;ENSP00000441919:A462V	ENSP00000355378:A852V	A	+	2	0	PLXNB3	152690550	0.000000	0.05858	0.962000	0.40283	0.003000	0.03518	0.759000	0.26461	0.875000	0.35847	0.513000	0.50165	GCC		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			32	120	0	0	0	1	0	32	120				
TMED10	10972	broad.mit.edu	37	14	75643079	75643079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75643079G>A	ENST00000303575.4	-	1	255	c.204C>T	c.(202-204)ggC>ggT	p.G68G		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	68	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TGCGCAGGCCGCCAGCGCCCC	0.662																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.(202-204)ggC>ggT		transmembrane emp24-like trafficking protein 10 (yeast)							50.0	53.0	52.0					14																	75643079		2203	4300	6503	SO:0001819	synonymous_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75643079G>A	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.204C>T	14.37:g.75643079G>A							p.G68G	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	1	255	-			68			GOLD.		B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Silent	SNP	ENST00000303575.4	37	c.204C>T	CCDS9840.1																																																																																				0.662	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827		127	403	0	0	0	1	0	127	403				
ANKRD52	283373	broad.mit.edu	37	12	56651145	56651145	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56651145C>A	ENST00000267116.7	-	3	233	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	38										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCTCTTGGTCCTGGGAAGGC	0.587																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.e3-1		ankyrin repeat domain 52							54.0	55.0	55.0					12																	56651145		2023	4173	6196	SO:0001630	splice_region_variant	283373						protein binding	g.chr12:56651145C>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.112-1G>T	12.37:g.56651145C>A							p.D38_splice	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			3	233	-			38					A6NE79|B1Q2K2	Splice_Site	SNP	ENST00000267116.7	37	c.111_splice	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399545	0.83120	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.19532	2.14	4.14	4.14	0.48551	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59910	-0.7365	10	0.66056	D	0.02	.	15.709	0.77609	0.0:1.0:0.0:0.0	.	38	Q8NB46	ANR52_HUMAN	Y	38	ENSP00000267116:D38Y	ENSP00000267116:D38Y	D	-	1	0	ANKRD52	54937412	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.507000	0.81676	2.304000	0.77564	0.591000	0.81541	GAC		0.587	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	Missense_Mutation	8	42	1	0	7.48243e-07	1	7.73841e-07	8	42				
THSD7A	221981	broad.mit.edu	37	7	11676485	11676485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11676485G>A	ENST00000423059.4	-	2	545	c.294C>T	c.(292-294)aaC>aaT	p.N98N	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	98	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGCTTACAGTTAGTATGCA	0.512										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(292-294)aaC>aaT		thrombospondin, type I, domain containing 7A							85.0	86.0	85.0					7																	11676485		2038	4193	6231	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11676485G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.294C>T	7.37:g.11676485G>A		HNSCC(18;0.044)				THSD7A_ENST00000480061.1_5'UTR	p.N98N	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	545	-			98			TSP type-1 1.			Silent	SNP	ENST00000423059.4	37	c.294C>T	CCDS47543.1																																																																																				0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		76	356	0	0	0	1	0	76	356				
TNFAIP3	7128	broad.mit.edu	37	6	138200249	138200249	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138200249C>A	ENST00000237289.4	+	7	1733	c.1667C>A	c.(1666-1668)cCt>cAt	p.P556H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	556	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACCAGCCTCCCTCCTTCCTGT	0.602			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1666-1668)cCt>cAt		tumor necrosis factor, alpha-induced protein 3							80.0	86.0	84.0					6																	138200249		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138200249C>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1667C>A	6.37:g.138200249C>A	ENSP00000237289:p.Pro556His						p.P556H	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1733	+	Breast(32;0.135)|Colorectal(23;0.24)		556			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1667C>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	7.100	0.573974	0.13623	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.31510	1.49	5.66	3.89	0.44902	.	0.686361	0.15795	N	0.244243	T	0.14098	0.0341	L	0.54323	1.7	0.09310	N	1	P	0.45348	0.856	B	0.40101	0.319	T	0.05273	-1.0895	10	0.72032	D	0.01	-12.5527	8.7343	0.34519	0.0:0.7492:0.0:0.2508	.	556	P21580	TNAP3_HUMAN	H	556	ENSP00000237289:P556H	ENSP00000237289:P556H	P	+	2	0	TNFAIP3	138241942	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	0.342000	0.19926	0.753000	0.32945	-0.258000	0.10820	CCT		0.602	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			90	364	1	0	1.84514e-49	1	2.28236e-49	90	364				
ASXL3	80816	broad.mit.edu	37	18	31326314	31326314	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31326314G>A	ENST00000269197.5	+	12	6502	c.6502G>A	c.(6502-6504)Gca>Aca	p.A2168T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAAAAGGGCAGCATCTGCAAT	0.473																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(6502-6504)Gca>Aca		additional sex combs like 3 (Drosophila)							150.0	154.0	152.0					18																	31326314		1906	4122	6028	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326314G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6502G>A	18.37:g.31326314G>A	ENSP00000269197:p.Ala2168Thr						p.A2168T	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	6502	+			2168					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6502G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699045	0.48307	.	.	ENSG00000141431	ENST00000269197	T	0.18960	2.18	6.17	5.31	0.75309	.	.	.	.	.	T	0.17450	0.0419	N	0.24115	0.695	0.41608	D	0.988892	B	0.20052	0.041	B	0.20184	0.028	T	0.02654	-1.1128	9	0.54805	T	0.06	.	15.6259	0.76855	0.0653:0.0:0.9347:0.0	.	2168	Q9C0F0	ASXL3_HUMAN	T	2168	ENSP00000269197:A2168T	ENSP00000269197:A2168T	A	+	1	0	ASXL3	29580312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.456000	0.66665	1.634000	0.50500	0.655000	0.94253	GCA		0.473	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			161	634	0	0	0	1	0	161	634				
RANBP2	5903	broad.mit.edu	37	2	109367806	109367806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109367806C>T	ENST00000283195.6	+	10	1486	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	454					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTGGAATCCGAAAATGGCT	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1360-1362)Cga>Tga		RAN binding protein 2							45.0	51.0	49.0					2																	109367806		1508	2702	4210	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367806C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1360C>T	2.37:g.109367806C>T	ENSP00000283195:p.Arg454*						p.R454*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1486	+			454					Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.1360C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	38	7.129996	0.98085	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	4.97	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3898	15.8284	0.78733	0.0:0.8639:0.1361:0.0	.	.	.	.	X	454	.	ENSP00000283195:R454X	R	+	1	2	RANBP2	108734238	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	2.491000	0.45303	1.211000	0.43351	0.650000	0.86243	CGA		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		196	597	0	0	0	1	0	196	597				
PRDM7	11105	broad.mit.edu	37	16	90128425	90128425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90128425G>A	ENST00000449207.2	-	7	805	c.786C>T	c.(784-786)aaC>aaT	p.N262N	PRDM7_ENST00000325921.6_Silent_p.N56N|PRDM7_ENST00000407825.1_Silent_p.N56N	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	262	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CAGATGCCTCGTTCCATACTC	0.577																																						ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5						c.(166-168)aaC>aaT		PR domain containing 7							91.0	84.0	86.0					16																	90128425		2198	4300	6498	SO:0001819	synonymous_variant	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90128425G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.786C>T	16.37:g.90128425G>A						PRDM7_ENST00000325921.6_Silent_p.N56N|PRDM7_ENST00000449207.2_Silent_p.N262N	p.N56N			Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	7	805	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	262			KRAB-related.		A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000449207.2	37	c.168C>T	CCDS45557.1																																																																																				0.577	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			16	489	0	0	0	1	0	16	489				
ZNF665	79788	broad.mit.edu	37	19	53668976	53668976	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668976T>C	ENST00000600412.1	-	2	687	c.572A>G	c.(571-573)cAt>cGt	p.H191R	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCTCCAGTATGAATTCTCTG	0.398																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(571-573)cAt>cGt		zinc finger protein 665							102.0	112.0	109.0					19																	53668976		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668976T>C		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.572A>G	19.37:g.53668976T>C	ENSP00000469154:p.His191Arg					ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R	p.H191R			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	687	-			191					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.572A>G		.	.	.	.	.	.	.	.	.	.	T	15.53	2.860023	0.51482	.	.	ENSG00000197497	ENST00000396424	T	0.67523	-0.27	2.44	0.146	0.14833	.	.	.	.	.	D	0.82351	0.5018	M	0.92122	3.275	0.23095	N	0.998303	D	0.89917	1.0	D	0.91635	0.999	T	0.69176	-0.5214	9	0.87932	D	0	.	6.2248	0.20701	0.0:0.2501:0.0:0.7499	.	256	Q9H7R5-2	.	R	256	ENSP00000379702:H256R	ENSP00000379702:H256R	H	-	2	0	ZNF665	58360788	0.998000	0.40836	0.000000	0.03702	0.372000	0.29890	4.080000	0.57620	-0.172000	0.10779	0.443000	0.29094	CAT		0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		26	622	0	0	0	1	0	26	622				
MYO5B	4645	broad.mit.edu	37	18	47363197	47363197	+	Missense_Mutation	SNP	C	C	T	rs373990722		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363197C>T	ENST00000285039.7	-	38	5496	c.5197G>A	c.(5197-5199)Gca>Aca	p.A1733T	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1733	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTCTGAACTGCTCCACTCTGG	0.507																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5197-5199)Gca>Aca		myosin VB		C	THR/ALA	0,3860		0,0,1930	70.0	66.0	67.0		5197	5.0	0.9	18		67	1,8255		0,1,4127	no	missense	MYO5B	NM_001080467.2	58	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	1733/1849	47363197	1,12115	1930	4128	6058	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363197C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5197G>A	18.37:g.47363197C>T	ENSP00000285039:p.Ala1733Thr					MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T|MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T	p.A1733T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	38	5496	-			1733			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5197G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337726	0.95758	0.0	1.21E-4	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.87729	-2.29;2.27	4.98	4.98	0.66077	Dilute (1);Dil domain (1);	0.000000	0.64402	D	0.000002	D	0.93249	0.7849	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	0.988;1.0	P;D	0.97110	0.893;1.0	D	0.93336	0.6705	10	0.59425	D	0.04	.	18.4226	0.90597	0.0:1.0:0.0:0.0	.	1733;848	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	1733;848	ENSP00000285039:A1733T;ENSP00000315531:A848T	ENSP00000285039:A1733T	A	-	1	0	MYO5B	45617195	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	5.913000	0.69957	2.738000	0.93877	0.655000	0.94253	GCA		0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			31	230	0	0	0	1	0	31	230				
PCDHGA12	26025	broad.mit.edu	37	5	140810381	140810381	+	Missense_Mutation	SNP	C	C	A	rs138641753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140810381C>A	ENST00000252085.3	+	1	197	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	19					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGAATCCTCCTGGGGAC	0.537																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(55-57)Ctc>Atc									80.0	91.0	87.0					5																	140810381		2203	4300	6503	SO:0001583	missense	0							g.chr5:140810381C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.55C>A	5.37:g.140810381C>A	ENSP00000252085:p.Leu19Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L19I	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	197	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.55C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	4.038	0.004618	0.07866	.	.	ENSG00000253159	ENST00000252085	T	0.54479	0.57	5.57	-1.04	0.10068	.	.	.	.	.	T	0.49525	0.1562	M	0.69248	2.105	0.09310	N	1	P;B	0.35872	0.525;0.307	B;B	0.37387	0.248;0.138	T	0.45264	-0.9273	9	0.52906	T	0.07	.	10.0467	0.42190	0.0:0.2627:0.5489:0.1884	.	19;19	O60330-2;O60330	.;PCDGC_HUMAN	I	19	ENSP00000252085:L19I	ENSP00000252085:L19I	L	+	1	0	PCDHGA12	140790565	0.000000	0.05858	0.158000	0.22627	0.016000	0.09150	-1.337000	0.02657	-0.272000	0.09259	-0.219000	0.12488	CTC		0.537	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		116	592	1	0	1.20412e-61	1	1.51656e-61	116	592				
MYO9A	4649	broad.mit.edu	37	15	72191130	72191130	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72191130G>A	ENST00000356056.5	-	25	4186	c.3714C>T	c.(3712-3714)gcC>gcT	p.A1238A	MYO9A_ENST00000564571.1_Silent_p.A1238A|MYO9A_ENST00000444904.1_Silent_p.A1219A|MYO9A_ENST00000424560.1_Silent_p.A1238A|MYO9A_ENST00000566885.1_Silent_p.A858A|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1238	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGGCTTTGGGCTCTCTCCT	0.473																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3712-3714)gcC>gcT		myosin IXA							163.0	157.0	159.0					15																	72191130		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72191130G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3714C>T	15.37:g.72191130G>A						MYO9A_ENST00000444904.1_Silent_p.A1219A|MYO9A_ENST00000564571.1_Silent_p.A1238A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.A858A|MYO9A_ENST00000424560.1_Silent_p.A1238A	p.A1238A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4186	-			1238			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.3714C>T	CCDS10239.1																																																																																				0.473	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		156	710	0	0	0	1	0	156	710				
EFHB	151651	broad.mit.edu	37	3	19925921	19925921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19925921G>A	ENST00000295824.9	-	11	2281	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V	EFHB_ENST00000344838.4_Missense_Mutation_p.A577V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	707							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTACAATTGCATTGATCTC	0.403																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(2119-2121)gCa>gTa		EF-hand domain family, member B							99.0	95.0	96.0					3																	19925921		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19925921G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2120C>T	3.37:g.19925921G>A	ENSP00000295824:p.Ala707Val					EFHB_ENST00000344838.4_Missense_Mutation_p.A577V	p.A707V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			11	2281	-			707					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2120C>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590323	0.86851	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34667	1.35;1.4	5.67	5.67	0.87782	.	0.075009	0.51477	D	0.000086	T	0.57562	0.2062	M	0.77103	2.36	0.40306	D	0.978667	P;D	0.59767	0.925;0.986	P;P	0.55455	0.691;0.776	T	0.59064	-0.7524	9	.	.	.	-13.2516	19.7874	0.96444	0.0:0.0:1.0:0.0	.	577;707	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	V	707;577	ENSP00000295824:A707V;ENSP00000342263:A577V	.	A	-	2	0	EFHB	19900925	0.945000	0.32115	0.019000	0.16419	0.093000	0.18481	5.062000	0.64326	2.685000	0.91497	0.650000	0.86243	GCA		0.403	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		46	146	0	0	0	1	0	46	146				
SKIV2L	6499	broad.mit.edu	37	6	31933776	31933776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31933776C>T	ENST00000375394.2	+	18	2301	c.2188C>T	c.(2188-2190)Cac>Tac	p.H730Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	730	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGCAGACCTGCACCGCATGAT	0.622																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(2188-2190)Cac>Tac		superkiller viralicidic activity 2-like (S. cerevisiae)							20.0	17.0	18.0					6																	31933776		1506	2707	4213	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31933776C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2188C>T	6.37:g.31933776C>T	ENSP00000364543:p.His730Tyr					SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	p.H730Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			18	2301	+			730			Helicase C-terminal.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.2188C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910495	0.92107	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47177	0.97;0.85	5.42	5.42	0.78866	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.17278	0.47	0.80722	D	1	D	0.60575	0.988	P	0.52514	0.701	T	0.37549	-0.9701	10	0.62326	D	0.03	-23.8527	17.9769	0.89130	0.0:1.0:0.0:0.0	.	730	Q15477	SKIV2_HUMAN	Y	730;572;537	ENSP00000364543:H730Y;ENSP00000442645:H537Y	ENSP00000364543:H730Y	H	+	1	0	SKIV2L	32041755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.427000	0.73378	2.545000	0.85829	0.655000	0.94253	CAC		0.622	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			24	92	0	0	0	1	0	24	92				
SYNE1	23345	broad.mit.edu	37	6	152457923	152457923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152457923C>T	ENST00000367255.5	-	141	26090	c.25489G>A	c.(25489-25491)Gcc>Acc	p.A8497T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8497					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGATGATGGCTTTGCGGTGG	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25489-25491)Gcc>Acc		spectrin repeat containing, nuclear envelope 1							98.0	95.0	96.0					6																	152457923		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152457923C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25489G>A	6.37:g.152457923C>T	ENSP00000356224:p.Ala8497Thr	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T	p.A8497T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	141	26090	-		Ovarian(120;0.0955)	8497					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25489G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812412	0.90707	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000078	T	0.59702	0.2213	M	0.73598	2.24	0.51012	D	0.999903	D;D;D;D;P	0.60160	0.987;0.987;0.984;0.987;0.553	P;P;P;P;B	0.58660	0.843;0.843;0.757;0.843;0.256	T	0.59043	-0.7528	10	0.44086	T	0.13	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	8497;8497;8449;8449;699	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	T	8497;652;1143;8449;8497;8449;8109;3021;682;677;1442;675	ENSP00000356224:A8497T;ENSP00000441052:A652T;ENSP00000356226:A1143T;ENSP00000396024:A8449T;ENSP00000265368:A8497T;ENSP00000390975:A8449T;ENSP00000341887:A8109T;ENSP00000349276:A3021T;ENSP00000356220:A1442T;ENSP00000346701:A675T	ENSP00000265368:A8497T	A	-	1	0	SYNE1	152499616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.886000	0.63149	2.623000	0.88846	0.655000	0.94253	GCC		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		66	349	0	0	0	1	0	66	349				
C7	730	broad.mit.edu	37	5	40947834	40947834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40947834G>A	ENST00000313164.9	+	8	1228	c.869G>A	c.(868-870)aGt>aAt	p.S290N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	290	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TATGACTACAGTGCCTACCGA	0.428																																						ENST00000313164.9																			0											c.(868-870)aGt>aAt		complement component 7							91.0	87.0	88.0					5																	40947834		1850	4091	5941	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40947834G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.869G>A	5.37:g.40947834G>A	ENSP00000322061:p.Ser290Asn						p.S290N	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			8	1228	+		Ovarian(839;0.0112)	290			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.869G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096169	0.56075	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.83755	-1.76	5.9	5.04	0.67666	Membrane attack complex component/perforin (MACPF) domain (3);	0.264931	0.45126	D	0.000385	T	0.79167	0.4400	L	0.58101	1.795	0.39187	D	0.962896	B	0.20550	0.046	B	0.22601	0.04	T	0.75803	-0.3189	10	0.37606	T	0.19	-12.6631	10.4816	0.44698	0.1479:0.0:0.8521:0.0	.	290	P10643	CO7_HUMAN	N	290	ENSP00000322061:S290N	ENSP00000322061:S290N	S	+	2	0	C7	40983591	0.006000	0.16342	1.000000	0.80357	0.886000	0.51366	0.308000	0.19314	1.502000	0.48669	-0.142000	0.14014	AGT		0.428	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			49	204	0	0	0	1	0	49	204				
SCN1A	6323	broad.mit.edu	37	2	166908316	166908316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166908316C>A	ENST00000303395.4	-	6	876	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.E293*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	293					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATATTCTTTTCTATACTATGT	0.358																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(877-879)Gaa>Taa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						69.0	72.0	71.0					2																	166908316		2203	4298	6501	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908316C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.877G>T	2.37:g.166908316C>A	ENSP00000303540:p.Glu293*					SCN1A_ENST00000303395.4_Nonsense_Mutation_p.E293*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E293*	p.E293*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			6	894	-			293					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.877G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557946	0.65538	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	.	0.454372	0.20978	N	0.082277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.7602	0.78073	0.0:0.7294:0.2706:0.0	.	.	.	.	X	293	.	ENSP00000303540:E293X	E	-	1	0	SCN1A	166616562	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	1.026000	0.30103	2.688000	0.91661	0.655000	0.94253	GAA		0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		32	196	1	0	2.81731e-10	1	2.98404e-10	32	196				
SMCR8	140775	broad.mit.edu	37	17	18219764	18219764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219764G>A	ENST00000406438.3	+	1	1141	c.661G>A	c.(661-663)Gac>Aac	p.D221N	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	221						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAAAGCCAACGACAAAGGCTT	0.463																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(661-663)Gac>Aac		Smith-Magenis syndrome chromosome region, candidate 8							61.0	58.0	59.0					17																	18219764		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219764G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.661G>A	17.37:g.18219764G>A	ENSP00000385025:p.Asp221Asn						p.D221N	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1141	+			221					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.661G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871235	0.72065	.	.	ENSG00000176994	ENST00000406438	T	0.29142	1.58	6.03	6.03	0.97812	.	0.116838	0.64402	D	0.000013	T	0.33177	0.0854	N	0.17082	0.46	0.40450	D	0.980134	D	0.57571	0.98	P	0.51999	0.687	T	0.02789	-1.1110	10	0.30854	T	0.27	-41.651	20.5568	0.99304	0.0:0.0:1.0:0.0	.	221	Q8TEV9	SMCR8_HUMAN	N	221	ENSP00000385025:D221N	ENSP00000385025:D221N	D	+	1	0	SMCR8	18160489	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	5.654000	0.67974	2.861000	0.98227	0.655000	0.94253	GAC		0.463	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		10	207	0	0	0	1	0	10	207				
TBC1D22A	25771	broad.mit.edu	37	22	47193447	47193447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47193447G>A	ENST00000337137.4	+	4	733	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TBC1D22A_ENST00000380995.1_Silent_p.A142A|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000406733.1_Silent_p.A142A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	189							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GCAGCTCAGCGCTGAGCGAAA	0.647											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(565-567)gcG>gcA		TBC1 domain family, member 22A							37.0	33.0	34.0					22																	47193447		2203	4300	6503	SO:0001819	synonymous_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47193447G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.567G>A	22.37:g.47193447G>A			OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	TBC1D22A_ENST00000406733.1_Silent_p.A142A|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000380995.1_Silent_p.A142A	p.A189A	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	4	733	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	189					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	37	c.567G>A	CCDS14078.1																																																																																				0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		55	227	0	0	0	1	0	55	227				
FAM160A2	84067	broad.mit.edu	37	11	6244424	6244424	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6244424T>C	ENST00000449352.2	-	4	1085	c.822A>G	c.(820-822)cgA>cgG	p.R274R	FAM160A2_ENST00000524416.1_Silent_p.R274R|FAM160A2_ENST00000265978.4_Silent_p.R274R			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	274					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCAATCTTTCGAGGCAGTG	0.473																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(820-822)cgA>cgG		family with sequence similarity 160, member A2							122.0	124.0	123.0					11																	6244424		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244424T>C		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.822A>G	11.37:g.6244424T>C						FAM160A2_ENST00000524416.1_Silent_p.R274R|FAM160A2_ENST00000449352.2_Silent_p.R274R	p.R274R	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			4	1180	-			274					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.822A>G	CCDS44530.1																																																																																				0.473	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		201	687	0	0	0	1	0	201	687				
ARCN1	372	broad.mit.edu	37	11	118453977	118453977	+	Silent	SNP	C	C	T	rs200580338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118453977C>T	ENST00000264028.4	+	3	446	c.351C>T	c.(349-351)gtC>gtT	p.V117V	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Silent_p.V158V|ARCN1_ENST00000392859.3_Silent_p.V29V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	117					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGAAATTGTCGCACTGGGAT	0.428																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(472-474)gtC>gtT		archain 1		C	,	0,4400		0,0,2200	147.0	141.0	143.0		87,351	-11.6	0.2	11		143	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	ARCN1	NM_001142281.1,NM_001655.4	,	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	,	29/424,117/512	118453977	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118453977C>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.351C>T	11.37:g.118453977C>T						ARCN1_ENST00000264028.4_Silent_p.V117V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V29V	p.V158V			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	4	639	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	117					B4E1X2|E9PEU4|Q52M80	Silent	SNP	ENST00000264028.4	37	c.474C>T	CCDS8400.1																																																																																				0.428	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			70	321	0	0	0	1	0	70	321				
ITIH6	347365	broad.mit.edu	37	X	54783453	54783453	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54783453G>A	ENST00000218436.6	-	8	3083	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1018					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGGACTCCACGAACTTGGATT	0.522																																						ENST00000218436.6																			0											c.(3052-3054)ttC>ttT		inter-alpha-trypsin inhibitor heavy chain family, member 6							83.0	67.0	72.0					X																	54783453		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783453G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3054C>T	X.37:g.54783453G>A							p.F1018F	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	3083	-			1018					A6NN03	Silent	SNP	ENST00000218436.6	37	c.3054C>T	CCDS14361.1																																																																																				0.522	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		31	108	0	0	0	1	0	31	108				
CTNND1	1500	broad.mit.edu	37	11	57564342	57564342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57564342G>A	ENST00000399050.4	+	6	1370	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000524630.1_Silent_p.E278E|CTNND1_ENST00000532844.1_Silent_p.E224E|CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000532649.1_Silent_p.E224E|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000526938.1_Silent_p.E278E	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	278					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTCATCCAGAGCCTTATGGGC	0.557																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(832-834)gaG>gaA		catenin (cadherin-associated protein), delta 1							125.0	134.0	131.0					11																	57564342		2132	4249	6381	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57564342G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.834G>A	11.37:g.57564342G>A						CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000532844.1_Silent_p.E224E|CTNND1_ENST00000526938.1_Silent_p.E278E|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000399050.4_Silent_p.E278E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000532649.1_Silent_p.E224E	p.E278E			O60716	CTND1_HUMAN			6	1347	+		all_epithelial(135;0.155)	278					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.834G>A	CCDS44604.1																																																																																				0.557	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		162	723	0	0	0	1	0	162	723				
ATP2B1	490	broad.mit.edu	37	12	90024332	90024332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024332G>T	ENST00000428670.3	-	6	1334	c.878C>A	c.(877-879)gCt>gAt	p.A293D	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	293					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ttcACCTCCAGCTCCAAGTAA	0.343																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(877-879)gCt>gAt		ATPase, Ca++ transporting, plasma membrane 1							69.0	64.0	66.0					12																	90024332		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90024332G>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.878C>A	12.37:g.90024332G>T	ENSP00000392043:p.Ala293Asp					ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D	p.A293D			P20020	AT2B1_HUMAN			6	1334	-			293					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.878C>A	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935294	0.73442	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.42	5.42	0.78866	.	0.221912	0.46758	D	0.000261	D	0.87116	0.6097	L	0.29908	0.895	0.80722	D	1	P;B	0.46512	0.879;0.045	B;B	0.43103	0.408;0.093	D	0.85982	0.1483	9	.	.	.	-31.7678	19.2222	0.93801	0.0:0.0:1.0:0.0	.	293;293	P20020-3;P20020-2	.;.	D	293;293;293;293;36	ENSP00000261173:A293D;ENSP00000343599:A293D;ENSP00000352054:A293D;ENSP00000392043:A293D;ENSP00000376869:A36D	.	A	-	2	0	ATP2B1	88548463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.213000	0.72194	2.555000	0.86185	0.650000	0.86243	GCT		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		38	192	1	0	5.43694e-19	1	6.05247e-19	38	192				
FASN	2194	broad.mit.edu	37	17	80039892	80039892	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039892G>A	ENST00000306749.2	-	36	6374	c.6156C>T	c.(6154-6156)ggC>ggT	p.G2052G	FASN_ENST00000579758.1_Splice_Site	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2052	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CACCTGGGAGGCCTTCGTGCC	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000579758.1																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.e5+1		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						50.0	52.0	51.0					17																	80039892		2203	4298	6501	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80039892G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6156C>T	17.37:g.80039892G>A						FASN_ENST00000306749.2_Silent_p.G2052G				P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		5	685	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)							Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	37		CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562789	0.45694	.	.	ENSG00000169710	ENST00000545909	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.66218	0.2767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69669	-0.5083	5	0.87932	D	0	-30.5223	9.672	0.40017	0.0:0.1316:0.6472:0.2212	.	.	.	.	V	813	.	ENSP00000438053:A813V	A	-	2	0	FASN	77633181	0.998000	0.40836	1.000000	0.80357	0.642000	0.38348	0.189000	0.17037	2.187000	0.69744	0.313000	0.20887	GCC		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		48	184	0	0	0	1	0	48	184				
LOC100130331	100130331	broad.mit.edu	37	1	238090390	238090390	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238090390C>T	ENST00000450451.1	+	0	1896					NR_027247.2																						AGATCTGGGACCACACCTTCT	0.597																																						ENST00000450451.1																			0																																																			0							g.chr1:238090390C>T																													1.37:g.238090390C>T								NR_027247.2						0	1896	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.597	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			75	234	0	0	0	1	0	75	234				
COL7A1	1294	broad.mit.edu	37	3	48621980	48621980	+	Nonsense_Mutation	SNP	C	C	A	rs149361101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621980C>A	ENST00000328333.8	-	35	4164	c.4057G>T	c.(4057-4059)Gga>Tga	p.G1353*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1353	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGACTTGTCCGGGAGCCCCC	0.582																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4057-4059)Gga>Tga		collagen, type VII, alpha 1							111.0	116.0	114.0					3																	48621980		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621980C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4057G>T	3.37:g.48621980C>A	ENSP00000332371:p.Gly1353*					COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	p.G1353*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	35	4164	-			1353			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.4057G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	43	10.205791	0.99359	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.33	5.33	0.75918	.	0.000000	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7269	0.77766	0.0:1.0:0.0:0.0	.	.	.	.	X	1353	.	.	G	-	1	0	COL7A1	48596984	0.003000	0.15002	0.987000	0.45799	0.235000	0.25334	0.395000	0.20850	2.489000	0.83994	0.655000	0.94253	GGA		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		34	826	1	0	3.90053e-15	1	4.25374e-15	34	826				
ZNF644	84146	broad.mit.edu	37	1	91406463	91406463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91406463C>A	ENST00000370440.1	-	3	665	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAACAAGATTCTGTTGTTGGC	0.403																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(448-450)Gaa>Taa		zinc finger protein 644							79.0	78.0	78.0					1																	91406463		2203	4299	6502	SO:0001587	stop_gained	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406463C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.448G>T	1.37:g.91406463C>A	ENSP00000359469:p.Glu150*					ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*	p.E150*			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	665	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	150					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	c.448G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528257	0.64860	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	.	.	.	5.77	5.77	0.91146	.	0.066947	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1133	19.9855	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000337008:E150X	E	-	1	0	ZNF644	91179051	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.677000	0.68142	2.715000	0.92844	0.655000	0.94253	GAA		0.403	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		104	378	1	0	2.07245e-51	1	2.57162e-51	104	378				
USP45	85015	broad.mit.edu	37	6	99893884	99893884	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99893884A>G	ENST00000327681.6	-	14	2296	c.1764T>C	c.(1762-1764)tgT>tgC	p.C588C	USP45_ENST00000369233.2_Silent_p.C540C|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	588	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCTCTAAAAAACATAAATTAT	0.353																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1762-1764)tgT>tgC		ubiquitin specific peptidase 45							35.0	39.0	38.0					6																	99893884		2202	4300	6502	SO:0001819	synonymous_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99893884A>G	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1764T>C	6.37:g.99893884A>G						USP45_ENST00000369233.2_Silent_p.C540C|USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000539675.1_Intron	p.C588C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	14	2296	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	588					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	c.1764T>C	CCDS34501.1																																																																																				0.353	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		66	228	0	0	0	1	0	66	228				
H2AFZ	3015	broad.mit.edu	37	4	100870530	100870530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870530C>T	ENST00000296417.5	-	3	312	c.95G>A	c.(94-96)cGt>cAt	p.R32H	DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	32					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TCGATGAATACGGCCCACTGG	0.498											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(94-96)cGt>cAt		H2A histone family, member Z							57.0	57.0	57.0					4																	100870530		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870530C>T	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.95G>A	4.37:g.100870530C>T	ENSP00000296417:p.Arg32His		OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	H2AFZ_ENST00000529158.1_5'UTR	p.R32H	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	3	312	-			32					B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.95G>A	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369968	0.61624	.	.	ENSG00000164032	ENST00000296417	D	0.85258	-1.96	3.62	3.62	0.41486	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	H	0.96111	3.77	0.80722	D	1	B	0.27450	0.179	B	0.13407	0.009	D	0.90583	0.4531	10	0.62326	D	0.03	-3.3569	15.4655	0.75397	0.0:1.0:0.0:0.0	.	32	P0C0S5	H2AZ_HUMAN	H	32	ENSP00000296417:R32H	ENSP00000296417:R32H	R	-	2	0	H2AFZ	101089553	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.107000	0.64603	1.853000	0.53794	0.555000	0.69702	CGT		0.498	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		31	175	0	0	0	1	0	31	175				
ABCA12	26154	broad.mit.edu	37	2	215845305	215845305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215845305C>T	ENST00000272895.7	-	31	4861	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1548	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAGGAAGGCGATGCGGTCA	0.512																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4642-4644)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 12							127.0	115.0	119.0					2																	215845305		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215845305C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4642G>A	2.37:g.215845305C>T	ENSP00000272895:p.Ala1548Thr					ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	p.A1548T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	31	4861	-		Renal(323;0.127)	1548			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4642G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809464	0.96975	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.76060	-0.99;-0.99	5.95	5.95	0.96441	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000001	D	0.86698	0.5995	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86705	0.1932	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	1548;1230	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1548;1230	ENSP00000272895:A1548T;ENSP00000374312:A1230T	ENSP00000272895:A1548T	A	-	1	0	ABCA12	215553550	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	GCC		0.512	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		21	311	0	0	0	1	0	21	311				
CEP97	79598	broad.mit.edu	37	3	101476949	101476949	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101476949G>A	ENST00000341893.3	+	9	2251	c.1499G>A	c.(1498-1500)aGt>aAt	p.S500N	CEP97_ENST00000327230.4_Missense_Mutation_p.S500N|CEP97_ENST00000494050.1_Missense_Mutation_p.S441N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	500	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATAACCACAGTCTTACATTT	0.358																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1498-1500)aGt>aAt		centrosomal protein 97kDa							112.0	118.0	116.0					3																	101476949		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101476949G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1499G>A	3.37:g.101476949G>A	ENSP00000342510:p.Ser500Asn					CEP97_ENST00000494050.1_Missense_Mutation_p.S441N|CEP97_ENST00000327230.4_Missense_Mutation_p.S500N	p.S500N			Q8IW35	CEP97_HUMAN			9	2251	+			500			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1499G>A	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	8.850	0.944259	0.18356	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.62;0.58;0.48	4.85	0.626	0.17670	.	0.866657	0.10574	N	0.658817	T	0.33789	0.0875	L	0.32530	0.975	0.09310	N	1	B;B;B	0.15719	0.014;0.005;0.001	B;B;B	0.17979	0.02;0.007;0.003	T	0.22417	-1.0217	10	0.27082	T	0.32	-2.515	1.1628	0.01809	0.4022:0.1579:0.2951:0.1448	.	441;500;500	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	N	500;500;441	ENSP00000342510:S500N;ENSP00000325881:S500N;ENSP00000418185:S441N	ENSP00000325881:S500N	S	+	2	0	CEP97	102959639	0.000000	0.05858	0.334000	0.25495	0.709000	0.40893	-0.022000	0.12480	0.212000	0.20703	0.305000	0.20034	AGT		0.358	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		19	569	0	0	0	1	0	19	569				
LRRC37B	114659	broad.mit.edu	37	17	30362622	30362622	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30362622A>C	ENST00000341671.7	+	7	2092	c.2087A>C	c.(2086-2088)aAg>aCg	p.K696T	LRRC37B_ENST00000327564.7_Missense_Mutation_p.K723T|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K614T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	696						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACAACACTTAAGAACATTCTC	0.303																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2167-2169)aAg>aCg		leucine rich repeat containing 37B							187.0	177.0	180.0					17																	30362622		2203	4299	6502	SO:0001583	missense	114659					integral to membrane		g.chr17:30362622A>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2087A>C	17.37:g.30362622A>C	ENSP00000340519:p.Lys696Thr					LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K614T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T|LRRC37B_ENST00000341671.7_Missense_Mutation_p.K696T	p.K723T			Q96QE4	LR37B_HUMAN			7	2229	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	696					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.2168A>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	a	13.02	2.110991	0.37242	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.52295	0.67;0.67;0.84;0.67	2.72	2.72	0.32119	.	.	.	.	.	T	0.33206	0.0855	L	0.33485	1.01	0.09310	N	1	P;B	0.35174	0.488;0.208	B;B	0.32211	0.142;0.016	T	0.19063	-1.0317	9	0.52906	T	0.07	.	7.2683	0.26242	1.0:0.0:0.0:0.0	.	645;696	Q17RC9;Q96QE4	.;LR37B_HUMAN	T	614;723;645;696	ENSP00000443345:K614T;ENSP00000332536:K723T;ENSP00000378202:K645T;ENSP00000340519:K696T	ENSP00000332536:K723T	K	+	2	0	LRRC37B	27386735	0.971000	0.33674	0.038000	0.18304	0.005000	0.04900	1.316000	0.33620	1.474000	0.48178	0.450000	0.29827	AAG		0.303	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		170	698	0	0	0	1	0	170	698				
PRICKLE2	166336	broad.mit.edu	37	3	64085153	64085153	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085153G>A	ENST00000295902.6	-	8	2694	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S759S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	703	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCGCGTTCGCTGGCCAGGT	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2107-2109)agC>agT		prickle homolog 2 (Drosophila)							43.0	46.0	45.0					3																	64085153		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085153G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2109C>T	3.37:g.64085153G>A						PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S759S	p.S703S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2694	-		Lung NSC(201;0.136)	703			Arg-rich.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.2109C>T	CCDS2902.1																																																																																				0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		84	316	0	0	0	1	0	84	316				
ZC3H7B	23264	broad.mit.edu	37	22	41723231	41723231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41723231G>T	ENST00000352645.4	+	5	564	c.307G>T	c.(307-309)Gag>Tag	p.E103*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	103					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAAGGCGCTGGAGGACAGCGA	0.627																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(307-309)Gag>Tag		zinc finger CCCH-type containing 7B							109.0	86.0	94.0					22																	41723231		2203	4300	6503	SO:0001587	stop_gained	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41723231G>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.307G>T	22.37:g.41723231G>T	ENSP00000345793:p.Glu103*					ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	p.E103*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			5	564	+			103					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Nonsense_Mutation	SNP	ENST00000352645.4	37	c.307G>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.157690	0.97334	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.27	5.27	0.74061	.	0.052170	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-34.2907	18.8953	0.92421	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000263243:E103X	E	+	1	0	ZC3H7B	40053177	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.577000	0.53885	2.457000	0.83068	0.491000	0.48974	GAG		0.627	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		92	437	1	0	6.78028e-52	1	8.425e-52	92	437				
EIF4B	1975	broad.mit.edu	37	12	53427635	53427635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53427635C>A	ENST00000262056.9	+	9	1351	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	EIF4B_ENST00000420463.3_Missense_Mutation_p.P342H|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	342					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CGGAGTACTCCTAAGGAAGAT	0.458																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1024-1026)cCt>cAt		eukaryotic translation initiation factor 4B							67.0	62.0	64.0					12																	53427635		1807	4076	5883	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53427635C>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1025C>A	12.37:g.53427635C>A	ENSP00000262056:p.Pro342His					EIF4B_ENST00000420463.3_Missense_Mutation_p.P342H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H	p.P342H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			9	1351	+			342					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1025C>A	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391431	0.83011	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481	D;T;T	0.94184	-3.37;0.58;0.57	4.76	4.76	0.60689	.	0.175924	0.49916	D	0.000137	D	0.96414	0.8830	M	0.75615	2.305	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.986;0.994;0.99	D	0.96833	0.9612	10	0.87932	D	0	.	17.2267	0.86972	0.0:1.0:0.0:0.0	.	303;342;318;342	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	342;342;318;303;297	ENSP00000262056:P342H;ENSP00000388806:P342H;ENSP00000449746:P297H	ENSP00000262056:P342H	P	+	2	0	EIF4B	51713902	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.950000	0.75977	2.595000	0.87683	0.460000	0.39030	CCT		0.458	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		45	168	1	0	1.46156e-29	1	1.70844e-29	45	168				
AKAP2	11217	broad.mit.edu	37	9	112900226	112900226	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900226C>A	ENST00000259318.7	+	2	1916	c.1709C>A	c.(1708-1710)gCt>gAt	p.A570D	AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A801D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	570	PKA-RII subunit binding domain.									breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAGTATCAGGCTGGCCTCCTG	0.542																																						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.(2401-2403)gCt>gAt									39.0	39.0	39.0					9																	112900226		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112900226C>A	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.1709C>A	9.37:g.112900226C>A	ENSP00000259318:p.Ala570Asp					AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A570D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D	p.A801D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2582	+			570					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2402C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912078	0.72983	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.58940	1.63;1.65;1.63;1.65;0.87;0.32;0.3;0.94	5.95	5.95	0.96441	RII binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.70275	2.135	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0;0.998;0.998;0.997	T	0.77747	-0.2472	10	0.87932	D	0	-20.6001	19.3768	0.94514	0.0:1.0:0.0:0.0	.	570;659;653;659;660;801;801;619	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	801;801;801;801;659;659;619;570	ENSP00000363654:A801D;ENSP00000305861:A801D;ENSP00000451476:A801D;ENSP00000421522:A801D;ENSP00000404782:A659D;ENSP00000363649:A659D;ENSP00000419268:A619D;ENSP00000259318:A570D	ENSP00000259318:A570D	A	+	2	0	PALM2-AKAP2;AKAP2	111940047	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.121000	0.77160	2.810000	0.96702	0.650000	0.86243	GCT		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		33	151	1	0	2.61193e-14	1	2.83483e-14	33	151				
PAK1IP1	55003	broad.mit.edu	37	6	10697608	10697608	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10697608T>C	ENST00000379568.3	+	2	427	c.136T>C	c.(136-138)Tca>Cca	p.S46P	C6orf52_ENST00000460742.2_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000379586.1_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	46					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGCCTCCTTGTCAGCAGTAGC	0.428																																						ENST00000379568.3																			0				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(136-138)Tca>Cca		PAK1 interacting protein 1							211.0	212.0	212.0					6																	10697608		2203	4300	6503	SO:0001583	missense	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10697608T>C	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.136T>C	6.37:g.10697608T>C	ENSP00000368887:p.Ser46Pro						p.S46P	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN			2	427	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	46					Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	c.136T>C	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.764973	0.69878	.	.	ENSG00000111845	ENST00000379568	T	0.61859	0.07	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.182898	0.48767	D	0.000172	T	0.67979	0.2951	M	0.79805	2.47	0.45648	D	0.998575	D	0.69078	0.997	D	0.70227	0.968	T	0.68780	-0.5318	10	0.30854	T	0.27	-14.3107	13.4803	0.61332	0.0:0.0:0.0:1.0	.	46	Q9NWT1	PK1IP_HUMAN	P	46	ENSP00000368887:S46P	ENSP00000368887:S46P	S	+	1	0	PAK1IP1	10805594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.817000	0.55668	2.066000	0.61787	0.528000	0.53228	TCA		0.428	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		15	835	0	0	0	1	0	15	835				
C20orf166-AS1	253868	broad.mit.edu	37	20	61143718	61143718	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61143718C>T	ENST00000475015.1	-	0	620				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1																		CCGTGGGAAGCGCTGTGGCGT	0.667																																						ENST00000475015.1																			0																				69.0	64.0	66.0					20																	61143718		2203	4300	6503			0							g.chr20:61143718C>T	AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143718C>T						C20orf166-AS1_ENST00000412495.1_RNA								0	620	-								Q52LN1	RNA	SNP	ENST00000475015.1	37																																																																																						0.667	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263		23	552	0	0	0	1	0	23	552				
SCAP	22937	broad.mit.edu	37	3	47459949	47459949	+	Silent	SNP	G	G	A	rs368756779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47459949G>A	ENST00000265565.5	-	15	2605	c.2193C>T	c.(2191-2193)cgC>cgT	p.R731R	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.R476R|SCAP_ENST00000545718.1_Silent_p.R339R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	731	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCATAGCACGCGGTAGAGGC	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		10056	0.0		0.0	False		,,,				2504	0.001				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2191-2193)cgC>cgT		SREBF chaperone		G		2,4336		0,2,2167	10.0	14.0	12.0		2193	-6.2	0.6	3		12	0,8514		0,0,4257	no	coding-synonymous	SCAP	NM_012235.2		0,2,6424	AA,AG,GG		0.0,0.0461,0.0156		731/1280	47459949	2,12850	2169	4257	6426	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47459949G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2193C>T	3.37:g.47459949G>A						SCAP_ENST00000545718.1_Silent_p.R339R|SCAP_ENST00000441517.2_Silent_p.R476R	p.R731R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	15	2605	-			731			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.2193C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299887	0.05532	4.61E-4	0.0	ENSG00000114650	ENST00000383739	.	.	.	4.22	-6.18	0.02085	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54715	-0.8252	6	0.87932	D	0	-20.461	3.3723	0.07225	0.4167:0.336:0.1566:0.0906	.	.	.	.	C	256	.	ENSP00000373245:R256C	R	-	1	0	SCAP	47434953	0.000000	0.05858	0.607000	0.28956	0.034000	0.12701	-2.562000	0.00920	-1.126000	0.02929	-0.440000	0.05779	CGT		0.716	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		13	52	0	0	0	1	0	13	52				
PCDHB10	56126	broad.mit.edu	37	5	140573467	140573467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573467G>A	ENST00000239446.4	+	1	1526	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.597																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1342-1344)Gcc>Acc									61.0	60.0	61.0					5																	140573467		2203	4292	6495	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573467G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1342G>A	5.37:g.140573467G>A	ENSP00000239446:p.Ala448Thr						p.A448T	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1526	+			448			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1342G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	12.55	1.971885	0.34754	.	.	ENSG00000120324	ENST00000239446	T	0.03181	4.02	3.22	2.23	0.28157	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.06962	0.0177	M	0.84433	2.695	0.35283	D	0.781521	B	0.27823	0.19	B	0.21917	0.037	T	0.03453	-1.1035	9	0.56958	D	0.05	.	7.6598	0.28396	0.0:0.2886:0.5556:0.1558	.	448	Q9UN67	PCDBA_HUMAN	T	448	ENSP00000239446:A448T	ENSP00000239446:A448T	A	+	1	0	PCDHB10	140553651	0.000000	0.05858	1.000000	0.80357	0.809000	0.45718	-0.562000	0.05950	1.819000	0.53055	0.549000	0.68633	GCC		0.597	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		105	603	0	0	0	1	0	105	603				
CA6	765	broad.mit.edu	37	1	9030969	9030969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9030969C>T	ENST00000377443.2	+	7	777	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CA6_ENST00000377436.3_Missense_Mutation_p.T258I|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.T198I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	258					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	CGCAACAAGACCATCCACAAC	0.512																																						ENST00000377443.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(772-774)aCc>aTc		carbonic anhydrase VI							153.0	140.0	144.0					1																	9030969		2203	4300	6503	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9030969C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.773C>T	1.37:g.9030969C>T	ENSP00000366662:p.Thr258Ile					CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.T258I|CA6_ENST00000377442.2_Missense_Mutation_p.T198I	p.T258I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	7	777	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	258					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.773C>T	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639481	0.29157	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.68025	-0.3;-0.3;-0.3	5.57	3.71	0.42584	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.492459	0.22962	N	0.053539	T	0.73659	0.3615	L	0.56199	1.76	0.24211	N	0.995473	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.961	T	0.62530	-0.6835	10	0.41790	T	0.15	.	8.7616	0.34678	0.0:0.8251:0.0:0.1749	.	198;258	E7EMQ1;P23280	.;CAH6_HUMAN	I	258;258;198	ENSP00000366662:T258I;ENSP00000366654:T258I;ENSP00000366661:T198I	ENSP00000366654:T258I	T	+	2	0	CA6	8953556	0.992000	0.36948	0.034000	0.17996	0.008000	0.06430	3.136000	0.50554	0.721000	0.32231	0.205000	0.17691	ACC		0.512	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			81	459	0	0	0	1	0	81	459				
CDH22	64405	broad.mit.edu	37	20	44828116	44828116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44828116G>T	ENST00000372262.3	-	7	1769	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	CDH22_ENST00000537909.1_Missense_Mutation_p.L457M	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	457	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGCGGTCCAGCCCCTTGCCA	0.652																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1369-1371)Ctg>Atg		cadherin 22, type 2							53.0	41.0	45.0					20																	44828116		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44828116G>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1369C>A	20.37:g.44828116G>T	ENSP00000361336:p.Leu457Met					CDH22_ENST00000537909.1_Missense_Mutation_p.L457M	p.L457M	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			7	1769	-		Myeloproliferative disorder(115;0.0122)	457			Cadherin 4.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1369C>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659496	0.47467	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.74842	-0.88;-0.88	4.47	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.89476	0.6726	H	0.94264	3.515	0.49130	D	0.999754	D	0.89917	1.0	D	0.97110	1.0	D	0.92205	0.5771	10	0.87932	D	0	.	14.8113	0.69996	0.0:0.0:1.0:0.0	.	457	Q9UJ99	CAD22_HUMAN	M	457	ENSP00000361336:L457M;ENSP00000437790:L457M	ENSP00000361336:L457M	L	-	1	2	CDH22	44261523	0.992000	0.36948	0.998000	0.56505	0.060000	0.15804	2.029000	0.41098	2.471000	0.83476	0.555000	0.69702	CTG		0.652	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		5	130	1	0	0.00116845	1	0.00118049	5	130				
ROBO2	6092	broad.mit.edu	37	3	77147265	77147265	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77147265G>A	ENST00000461745.1	+	2	1062	c.162G>A	c.(160-162)gcG>gcA	p.A54A	ROBO2_ENST00000332191.8_Silent_p.A54A|ROBO2_ENST00000487694.3_Silent_p.A70A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	54	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGCAAGGCGGAGGGCCGGC	0.617																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(160-162)gcG>gcA		roundabout, axon guidance receptor, homolog 2 (Drosophila)							53.0	59.0	57.0					3																	77147265		1980	4165	6145	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147265G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.162G>A	3.37:g.77147265G>A						ROBO2_ENST00000332191.8_Silent_p.A54A|ROBO2_ENST00000487694.3_Silent_p.A70A	p.A54A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	1062	+			54			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.162G>A	CCDS43109.1																																																																																				0.617	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		13	211	0	0	0	1	0	13	211				
XIST	7503	broad.mit.edu	37	X	73063692	73063692	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73063692C>T	ENST00000429829.1	-	0	8896					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTGATCAGGACACCCTGTTGT	0.383																																						ENST00000429829.1																			0																				53.0	49.0	50.0					X																	73063692		876	1991	2867			0							g.chrX:73063692C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063692C>T								NR_001564.2						0	8896	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.383	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		40	113	0	0	0	1	0	40	113				
MORN1	79906	broad.mit.edu	37	1	2290153	2290153	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2290153G>A	ENST00000378531.3	-	9	920	c.747C>T	c.(745-747)agC>agT	p.S249S	MORN1_ENST00000378529.3_Splice_Site_p.S249S|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	249										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGCCGCTCTCGCCTTCCAGGA	0.597																																						ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.e9-1		MORN repeat containing 1							46.0	44.0	45.0					1																	2290153		2202	4300	6502	SO:0001630	splice_region_variant	79906							g.chr1:2290153G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.746-1C>T	1.37:g.2290153G>A						MORN1_ENST00000378529.3_Splice_Site_p.S249_splice|MORN1_ENST00000606372.1_5'UTR	p.S249_splice	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	9	920	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	249					A6NKZ6|Q8WW30|Q9H852	Splice_Site	SNP	ENST00000378531.3	37	c.745_splice	CCDS40.1																																																																																				0.597	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848	Silent	8	80	0	0	0	1	0	8	80				
ZNF835	90485	broad.mit.edu	37	19	57176546	57176546	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176546G>A	ENST00000537055.2	-	2	252	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTGGAGGGCGACGCTCAAGA	0.512																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(19-21)gtC>gtT		zinc finger protein 835							62.0	64.0	63.0					19																	57176546		1965	4147	6112	SO:0001819	synonymous_variant	90485							g.chr19:57176546G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.21C>T	19.37:g.57176546G>A							p.V7V	NM_001005850.2	NP_001005850.2					2	252	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.21C>T	CCDS56105.1																																																																																				0.512	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		65	241	0	0	0	1	0	65	241				
GPRASP1	9737	broad.mit.edu	37	X	101912242	101912242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912242G>A	ENST00000361600.5	+	5	4202	c.3401G>A	c.(3400-3402)aGt>aAt	p.S1134N	GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1134	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAAGGAGAGTACAGAGCCT	0.433																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3400-3402)aGt>aAt		G protein-coupled receptor associated sorting protein 1							114.0	102.0	106.0					X																	101912242		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912242G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3401G>A	X.37:g.101912242G>A	ENSP00000355146:p.Ser1134Asn					GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.S1134N	p.S1134N	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4214	+			1134			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3401G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120952	0.01785	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	2.74	0.891	0.19224	Armadillo-type fold (1);	.	.	.	.	T	0.10423	0.0255	L	0.57536	1.79	0.09310	N	1	B	0.30824	0.296	B	0.28991	0.097	T	0.26643	-1.0097	9	0.52906	T	0.07	-6.343	4.4784	0.11755	0.3479:0.0:0.6521:0.0	.	1134	Q5JY77	GASP1_HUMAN	N	1134	ENSP00000393691:S1134N;ENSP00000409420:S1134N;ENSP00000355146:S1134N;ENSP00000445683:S1134N	ENSP00000355146:S1134N	S	+	2	0	GPRASP1	101798898	0.344000	0.24827	0.266000	0.24541	0.127000	0.20565	0.916000	0.28651	0.116000	0.18110	0.284000	0.19432	AGT		0.433	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		117	428	0	0	0	1	0	117	428				
FKBP8	23770	broad.mit.edu	37	19	18652785	18652785	+	5'UTR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18652785C>A	ENST00000596558.2	-	0	105				FKBP8_ENST00000222308.4_5'UTR|FKBP8_ENST00000610101.1_5'UTR|FKBP8_ENST00000453489.2_Missense_Mutation_p.S28I|FKBP8_ENST00000597960.3_5'UTR|FKBP8_ENST00000608443.1_5'UTR			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa						apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGCCATGCTGCTGGGGGGACA	0.617																																						ENST00000453489.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(82-84)aGc>aTc		FK506 binding protein 8, 38kDa							22.0	23.0	23.0					19																	18652785		2201	4292	6493	SO:0001623	5_prime_UTR_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18652785C>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.-5G>T	19.37:g.18652785C>A						FKBP8_ENST00000544835.2_5'UTR|FKBP8_ENST00000596558.1_5'UTR|FKBP8_ENST00000597960.2_5'UTR|FKBP8_ENST00000222308.3_5'UTR	p.S28I			Q14318	FKBP8_HUMAN			2	105	-			0			Glu-rich.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.83G>T		.	.	.	.	.	.	.	.	.	.	C	13.36	2.212560	0.39102	.	.	ENSG00000105701	ENST00000453489	T	0.35605	1.3	4.01	2.94	0.34122	.	.	.	.	.	T	0.25680	0.0625	.	.	.	0.80722	D	1	B	0.28512	0.214	B	0.23018	0.043	T	0.07849	-1.0751	8	0.56958	D	0.05	.	6.3309	0.21269	0.0:0.7081:0.1847:0.1071	.	28	B7Z6M0	.	I	28	ENSP00000388891:S28I	ENSP00000388891:S28I	S	-	2	0	FKBP8	18513785	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.813000	0.27225	0.792000	0.33850	0.491000	0.48974	AGC		0.617	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		33	154	1	0	1.07637e-12	1	1.15814e-12	33	154				
MYO5B	4645	broad.mit.edu	37	18	47390710	47390710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47390710T>C	ENST00000285039.7	-	28	3943	c.3644A>G	c.(3643-3645)gAc>gGc	p.D1215G	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1215					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTCATTCAGGTCATTCTTCAG	0.572																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3643-3645)gAc>gGc		myosin VB							137.0	148.0	144.0					18																	47390710		2013	4176	6189	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47390710T>C	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3644A>G	18.37:g.47390710T>C	ENSP00000285039:p.Asp1215Gly					MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G|MYO5B_ENST00000587895.1_5'UTR	p.D1215G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	28	3943	-			1215					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3644A>G	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636939	0.87760	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.22743	1.94;1.94	5.5	5.5	0.81552	.	0.225560	0.44688	D	0.000437	T	0.33294	0.0858	M	0.71036	2.16	0.80722	D	1	B;P	0.35456	0.091;0.502	B;B	0.42188	0.21;0.379	T	0.10314	-1.0635	10	0.56958	D	0.05	.	15.2853	0.73822	0.0:0.0:0.0:1.0	.	1215;356	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	G	1215;356	ENSP00000285039:D1215G;ENSP00000315531:D356G	ENSP00000285039:D1215G	D	-	2	0	MYO5B	45644708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.020000	0.88740	2.093000	0.63338	0.459000	0.35465	GAC		0.572	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			223	1081	0	0	0	1	0	223	1081				
TRAV13-1	28671	broad.mit.edu	37	14	22337474	22337474	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22337474G>T	ENST00000390436.2	+	0	288									T cell receptor alpha variable 13-1																		GAACAAGACAGCCAAACATTT	0.458																																						ENST00000390436.2																			0																				137.0	137.0	137.0					14																	22337474		1966	4172	6138			0							g.chr14:22337474G>T	AE000659		14q11.2	2012-02-07			ENSG00000211788	ENSG00000211788		"""T cell receptors / TRA locus"""	12108	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168993		14.37:g.22337474G>T														0	288	+									RNA	SNP	ENST00000390436.2	37																																																																																						0.458	TRAV13-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401891.1	NG_001332		120	519	1	0	1.90269e-63	1	2.40132e-63	120	519				
PTPRG	5793	broad.mit.edu	37	3	62259478	62259478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62259478C>T	ENST00000474889.1	+	23	3801	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1142					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CATCCTTATACCAGGAGTAGG	0.393																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3424-3426)Cca>Tca		protein tyrosine phosphatase, receptor type, G							127.0	120.0	123.0					3																	62259478		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62259478C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3424C>T	3.37:g.62259478C>T	ENSP00000418112:p.Pro1142Ser					PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.P1142S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	23	3801	+			1142					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3424C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342343	0.81911	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.52057	0.68;0.68	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.72118	2.19	0.80722	D	1	D;P;D	0.65815	0.995;0.952;0.992	P;P;P	0.62298	0.727;0.65;0.9	T	0.68550	-0.5379	10	0.72032	D	0.01	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	388;1113;1142	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1142;1113	ENSP00000418112:P1142S;ENSP00000295874:P1113S	ENSP00000295874:P1113S	P	+	1	0	PTPRG	62234518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.879000	0.98667	0.650000	0.86243	CCA		0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		84	352	0	0	0	1	0	84	352				
LAMA2	3908	broad.mit.edu	37	6	129371108	129371108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129371108C>T	ENST00000421865.2	+	2	207	c.158C>T	c.(157-159)aCg>aTg	p.T53M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	53	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTCTTATCACGACCAATGCA	0.443																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(157-159)aCg>aTg		laminin, alpha 2							195.0	174.0	181.0					6																	129371108		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371108C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.158C>T	6.37:g.129371108C>T	ENSP00000400365:p.Thr53Met						p.T53M	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	2	207	+			53			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.158C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942453	0.73672	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.76316	-1.01	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.234157	0.36815	N	0.002397	T	0.82254	0.4997	L	0.42581	1.335	0.44834	D	0.997846	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.963	D	0.83824	0.0248	10	0.72032	D	0.01	.	19.2501	0.93921	0.0:1.0:0.0:0.0	.	53;53	A6NF00;P24043	.;LAMA2_HUMAN	M	53	ENSP00000400365:T53M	ENSP00000346769:T53M	T	+	2	0	LAMA2	129412801	0.977000	0.34250	0.999000	0.59377	0.933000	0.57130	2.192000	0.42649	2.552000	0.86080	0.561000	0.74099	ACG		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			15	404	0	0	0	1	0	15	404				
TENM4	26011	broad.mit.edu	37	11	78369282	78369282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369282G>A	ENST00000278550.7	-	34	8593	c.8131C>T	c.(8131-8133)Cgg>Tgg	p.R2711W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2711					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TCCCCTTCCCGCAGTCTCTGC	0.667																																						ENST00000278550.7																			0											c.(8131-8133)Cgg>Tgg		teneurin transmembrane protein 4							49.0	56.0	53.0					11																	78369282		2035	4181	6216	SO:0001583	missense	26011							g.chr11:78369282G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8131C>T	11.37:g.78369282G>A	ENSP00000278550:p.Arg2711Trp						p.R2711W	NM_001098816.2	NP_001092286.2					34	8593	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8131C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782103	0.70222	.	.	ENSG00000149256	ENST00000278550	D	0.90563	-2.69	5.65	4.73	0.59995	.	0.058269	0.64402	D	0.000002	D	0.94427	0.8207	M	0.70595	2.14	0.51482	D	0.999927	D	0.89917	1.0	D	0.79784	0.993	D	0.94210	0.7458	9	.	.	.	.	15.1939	0.73071	0.0:0.0:0.7447:0.2553	.	2711	Q6N022	TEN4_HUMAN	W	2711	ENSP00000278550:R2711W	.	R	-	1	2	ODZ4	78046930	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.210000	0.58500	1.602000	0.50124	0.655000	0.94253	CGG		0.667	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			63	306	0	0	0	1	0	63	306				
C3P1	388503	broad.mit.edu	37	19	10160702	10160702	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10160702C>A	ENST00000495140.1	+	0	1373							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CAAGGAGACACTGTGCAGTGC	0.582																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															122.0	130.0	127.0					19																	10160702		2099	4226	6325			0							g.chr19:10160702C>A	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160702C>A														0	1373	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.582	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		78	376	1	0	1.76421e-39	1	2.13352e-39	78	376				
TOM1L1	10040	broad.mit.edu	37	17	53037950	53037950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53037950C>T	ENST00000575882.1	+	15	1747	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	465					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GAAATTGATGCTCACCAGCAC	0.343																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(1393-1395)gCt>gTt		target of myb1 (chicken)-like 1							110.0	110.0	110.0					17																	53037950		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53037950C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1394C>T	17.37:g.53037950C>T	ENSP00000460823:p.Ala465Val					TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V	p.A465V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			15	1747	+			465					Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.1394C>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613557	0.46631	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.26957	1.7;1.8;1.8	6.17	-7.98	0.01135	.	1.077410	0.07116	N	0.843044	T	0.09158	0.0226	N	0.05383	-0.06	0.40731	D	0.982742	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.19451	-1.0305	10	0.17832	T	0.49	0.0588	6.1911	0.20524	0.0929:0.5024:0.1878:0.2169	.	353;458;388;465	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	465;353;388;388	ENSP00000441242:A353V;ENSP00000343901:A388V;ENSP00000443099:A388V	ENSP00000343901:A388V	A	+	2	0	TOM1L1	50392949	0.000000	0.05858	0.003000	0.11579	0.723000	0.41478	-3.555000	0.00432	-1.488000	0.01847	-0.345000	0.07892	GCT		0.343	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		12	279	0	0	0	1	0	12	279				
GABRB1	2560	broad.mit.edu	37	4	47163380	47163380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47163380C>T	ENST00000295454.3	+	4	647	c.355C>T	c.(355-357)Cca>Tca	p.P119S	GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	119					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACTCTGGGTACCAGACACCTA	0.438																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(355-357)Cca>Tca		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						153.0	151.0	152.0					4																	47163380		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163380C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.355C>T	4.37:g.47163380C>T	ENSP00000295454:p.Pro119Ser					GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	p.P119S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			4	647	+			119					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.355C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294940	0.81025	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	D;D;D	0.98550	-4.99;-4.99;-4.99	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.080817	0.50627	D	0.000119	D	0.99162	0.9710	H	0.95574	3.69	0.58432	D	0.999999	D;P	0.69078	0.997;0.573	D;B	0.70487	0.969;0.334	D	0.98945	1.0792	10	0.87932	D	0	-9.8015	12.9232	0.58245	0.0:0.9191:0.0:0.0809	.	49;119	F5GXV5;P18505	.;GBRB1_HUMAN	S	86;119;49	ENSP00000426753:P86S;ENSP00000295454:P119S;ENSP00000440330:P49S	ENSP00000295454:P119S	P	+	1	0	GABRB1	46858137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.611000	0.88343	0.650000	0.86243	CCA		0.438	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			132	592	0	0	0	1	0	132	592				
CPSF4	10898	broad.mit.edu	37	7	99047943	99047943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99047943G>A	ENST00000292476.5	+	4	362	c.352G>A	c.(352-354)Gag>Aag	p.E118K	ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.E118K|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000441580.1_Missense_Mutation_p.E65K			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	118					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATCGACCCCGAGTCCAAGAT	0.622																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(352-354)Gag>Aag		cleavage and polyadenylation specific factor 4, 30kDa							84.0	68.0	74.0					7																	99047943		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99047943G>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.352G>A	7.37:g.99047943G>A	ENSP00000292476:p.Glu118Lys					PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.E118K|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000441580.1_Missense_Mutation_p.E65K	p.E118K	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			4	513	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		118					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.352G>A	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548760	0.96488	.	.	ENSG00000160917	ENST00000436336;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	T;T;T;T;T	0.32023	1.94;1.85;1.5;1.9;1.47	5.93	5.93	0.95920	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.49571	1.57	0.80722	D	1	D;D;D;D	0.64830	0.994;0.976;0.96;0.979	P;P;P;P	0.55011	0.598;0.703;0.508;0.766	T	0.03717	-1.1010	10	0.22109	T	0.4	-22.6792	20.3409	0.98764	0.0:0.0:1.0:0.0	.	65;118;118;118	B7Z7B0;O95639-3;O95639;O95639-2	.;.;CPSF4_HUMAN;.	K	118;118;65;65;85	ENSP00000395311:E118K;ENSP00000292476:E118K;ENSP00000402224:E65K;ENSP00000401150:E65K;ENSP00000392584:E85K	ENSP00000292476:E118K	E	+	1	0	CPSF4	98885879	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GAG		0.622	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			31	154	0	0	0	1	0	31	154				
STXBP5L	9515	broad.mit.edu	37	3	121132069	121132069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121132069C>T	ENST00000273666.6	+	25	3356	c.3085C>T	c.(3085-3087)Cga>Tga	p.R1029*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1029					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGGATAGCACGAACATTTTG	0.383																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3085-3087)Cga>Tga		syntaxin binding protein 5-like							165.0	149.0	154.0					3																	121132069		1940	4137	6077	SO:0001587	stop_gained	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121132069C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3085C>T	3.37:g.121132069C>T	ENSP00000273666:p.Arg1029*					STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	p.R1029*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	25	3356	+			1029					Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	37	c.3085C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	39	7.524871	0.98339	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	.	.	.	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7142	16.6818	0.85294	0.1308:0.8692:0.0:0.0	.	.	.	.	X	1029;1005;972	.	ENSP00000273666:R1029X	R	+	1	2	STXBP5L	122614759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.153000	0.50685	1.549000	0.49425	0.591000	0.81541	CGA		0.383	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			80	344	0	0	0	1	0	80	344				
SGK2	10110	broad.mit.edu	37	20	42208675	42208675	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42208675C>T	ENST00000341458.4	+	11	1312	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000373100.1_Silent_p.L305L|SGK2_ENST00000373077.1_Silent_p.L304L|SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000426287.1_Silent_p.L331L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	365	AGC-kinase C-terminal.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGAGGCTAACTCCACC	0.478																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(913-915)Cta>Tta		serum/glucocorticoid regulated kinase 2							126.0	112.0	117.0					20																	42208675		2203	4300	6503	SO:0001819	synonymous_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42208675C>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1093C>T	20.37:g.42208675C>T						SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000341458.4_Silent_p.L365L|SGK2_ENST00000426287.1_Silent_p.L331L|SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000373077.1_Silent_p.L304L	p.L305L			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1373	+		Myeloproliferative disorder(115;0.00452)	365			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	ENST00000341458.4	37	c.913C>T	CCDS13320.1																																																																																				0.478	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			48	251	0	0	0	1	0	48	251				
SNX21	90203	broad.mit.edu	37	20	44463645	44463645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44463645C>T	ENST00000491381.1	+	3	405	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	SNX21_ENST00000372542.1_Missense_Mutation_p.R104W|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W|SNX21_ENST00000344780.4_3'UTR|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000462307.1_Missense_Mutation_p.R113W			Q969T3	SNX21_HUMAN	sorting nexin family member 21	113					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGGCGCGGCAGCTGCA	0.617																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(310-312)Cgg>Tgg		sorting nexin family member 21							83.0	82.0	82.0					20																	44463645		2203	4300	6503	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44463645C>T	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.337C>T	20.37:g.44463645C>T	ENSP00000418593:p.Arg113Trp					SNX21_ENST00000462307.1_Missense_Mutation_p.R113W|SNX21_ENST00000491381.1_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W	p.R104W			Q969T3	SNX21_HUMAN			2	622	+		Myeloproliferative disorder(115;0.0122)	113					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.310C>T	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132239	0.56828	.	.	ENSG00000124104	ENST00000462307;ENST00000491381;ENST00000342644;ENST00000372542;ENST00000372541;ENST00000372545	T;T;T	0.54866	0.63;0.55;0.64	5.25	2.09	0.27110	.	0.239788	0.33401	N	0.004947	T	0.55401	0.1918	N	0.24115	0.695	0.24096	N	0.995898	D;D;D;D;D;D	0.89917	0.998;0.998;0.99;0.999;1.0;0.999	P;P;P;P;D;P	0.68765	0.809;0.876;0.712;0.809;0.96;0.893	T	0.52917	-0.8511	10	0.87932	D	0	-9.7916	12.2554	0.54621	0.5113:0.4887:0.0:0.0	.	104;104;113;113;113;113	Q5JZH4;Q5JZH3;Q969T3;Q5JZH7;Q05DJ0;Q5JZH5	.;.;SNX21_HUMAN;.;.;.	W	113;113;113;104;104;104	ENSP00000418593:R113W;ENSP00000344586:R113W;ENSP00000361620:R104W	ENSP00000344586:R113W	R	+	1	2	SNX21	43897052	0.979000	0.34478	0.022000	0.16811	0.267000	0.26476	1.715000	0.37971	0.269000	0.21961	0.563000	0.77884	CGG		0.617	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		110	544	0	0	0	1	0	110	544				
ARHGAP30	257106	broad.mit.edu	37	1	161018943	161018943	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161018943T>G	ENST00000368013.3	-	12	2188	c.1868A>C	c.(1867-1869)aAa>aCa	p.K623T	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	623					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GATTGGGGGTTTAGGTCCCAG	0.587																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1867-1869)aAa>aCa		Rho GTPase activating protein 30							144.0	143.0	143.0					1																	161018943		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018943T>G	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1868A>C	1.37:g.161018943T>G	ENSP00000356992:p.Lys623Thr					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T	p.K623T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2188	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		623					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.1868A>C	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	T	4.850	0.157960	0.09236	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.32988	2.98;2.96;1.43	5.18	1.3	0.21679	.	0.402704	0.20863	N	0.084316	T	0.08447	0.0210	M	0.67953	2.075	0.09310	N	1	B;P	0.37276	0.309;0.589	B;B	0.30316	0.058;0.114	T	0.25328	-1.0135	10	0.20046	T	0.44	.	4.0315	0.09711	0.0:0.1361:0.4473:0.4166	.	623;623	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	T	623;623;446	ENSP00000356995:K623T;ENSP00000356992:K623T;ENSP00000356994:K446T	ENSP00000356992:K623T	K	-	2	0	ARHGAP30	159285567	0.017000	0.18338	0.604000	0.28916	0.086000	0.17979	0.109000	0.15417	0.263000	0.21812	0.454000	0.30748	AAA		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		41	1147	0	0	0	1	0	41	1147				
C8orf46	254778	broad.mit.edu	37	8	67405895	67405895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67405895G>T	ENST00000305454.3	+	1	453	c.12G>T	c.(10-12)caG>caT	p.Q4H	C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q4H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	4										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGATGCATCAGATTTACAGCT	0.512																																						ENST00000305454.3																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6						c.(10-12)caG>caT		chromosome 8 open reading frame 46							110.0	93.0	99.0					8																	67405895		2203	4300	6503	SO:0001583	missense	254778							g.chr8:67405895G>T	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.12G>T	8.37:g.67405895G>T	ENSP00000302260:p.Gln4His					C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H	p.Q4H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		1	453	+			4					B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	ENST00000305454.3	37	c.12G>T	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434499	0.83776	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	5.98	5.98	0.97165	.	0.087235	0.50627	D	0.000108	T	0.68805	0.3041	L	0.36672	1.1	0.49051	D	0.999742	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.964	T	0.69555	-0.5114	9	0.72032	D	0.01	-10.6183	18.6387	0.91387	0.0:0.0:1.0:0.0	.	4;4	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	H	4	.	ENSP00000302260:Q4H	Q	+	3	2	C8orf46	67568449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.740000	0.47418	2.835000	0.97688	0.650000	0.86243	CAG		0.512	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		56	259	1	0	4.09171e-25	1	4.69077e-25	56	259				
BRWD1	54014	broad.mit.edu	37	21	40559106	40559106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40559106C>T	ENST00000333229.2	-	42	7136	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2270					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGAAGCATTTCGATGGGGCAG	0.338																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000333229.2																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(6808-6810)cGa>cAa		bromodomain and WD repeat domain containing 1							77.0	80.0	79.0					21																	40559106		2201	4296	6497	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40559106C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6809G>A	21.37:g.40559106C>T	ENSP00000330753:p.Arg2270Gln						p.R2270Q	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN			42	7136	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2270					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6809G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903770	0.92035	.	.	ENSG00000185658	ENST00000333229	T	0.60299	0.2	5.64	5.64	0.86602	.	0.159818	0.29314	N	0.012508	T	0.70228	0.3200	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	P	0.55011	0.766	T	0.72357	-0.4318	10	0.66056	D	0.02	-0.8337	18.2571	0.90023	0.0:1.0:0.0:0.0	.	2270	Q9NSI6	BRWD1_HUMAN	Q	2270	ENSP00000330753:R2270Q	ENSP00000330753:R2270Q	R	-	2	0	BRWD1	39480976	0.635000	0.27199	1.000000	0.80357	0.998000	0.95712	3.262000	0.51538	2.820000	0.97059	0.650000	0.86243	CGA		0.338	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		60	270	0	0	0	1	0	60	270				
NAPSA	9476	broad.mit.edu	37	19	50862018	50862018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50862018C>T	ENST00000253719.2	-	9	1263	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	352					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CAAGCAGAGGCGGACGCCATT	0.632																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1054-1056)cGc>cAc		napsin A aspartic peptidase							23.0	24.0	24.0					19																	50862018		2201	4298	6499	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862018C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1055G>A	19.37:g.50862018C>T	ENSP00000253719:p.Arg352His					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.R352H	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1263	-		all_neural(266;0.057)	352					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1055G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610610	0.46527	.	.	ENSG00000131400	ENST00000253719	T	0.57907	0.37	3.24	2.11	0.27256	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	1.265940	0.04994	N	0.467899	T	0.52565	0.1742	L	0.35341	1.055	0.09310	N	1	P	0.52842	0.956	P	0.49597	0.616	T	0.47420	-0.9119	10	0.72032	D	0.01	.	9.4839	0.38917	0.0:0.5772:0.4228:0.0	.	352	O96009	NAPSA_HUMAN	H	352	ENSP00000253719:R352H	ENSP00000253719:R352H	R	-	2	0	NAPSA	55553830	0.000000	0.05858	0.556000	0.28293	0.409000	0.31022	-0.308000	0.08156	0.569000	0.29329	0.313000	0.20887	CGC		0.632	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		35	115	0	0	0	1	0	35	115				
NIPAL2	79815	broad.mit.edu	37	8	99207043	99207043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99207043G>A	ENST00000341166.3	-	10	1207	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	RNU6-914P_ENST00000516749.1_RNA|NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.L318L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	318						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						AGGAATGACAGAAAACACCTG	0.308																																						ENST00000341166.3																			0				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						c.(952-954)Ctg>Ttg		NIPA-like domain containing 2							39.0	39.0	39.0					8																	99207043		2201	4293	6494	SO:0001819	synonymous_variant	79815					integral to membrane		g.chr8:99207043G>A	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.952C>T	8.37:g.99207043G>A						NIPAL2_ENST00000430223.2_Silent_p.L318L|NIPAL2_ENST00000520545.1_5'UTR	p.L318L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN			10	1207	-			318					A2RTY8	Silent	SNP	ENST00000341166.3	37	c.952C>T	CCDS6278.1																																																																																				0.308	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		19	98	0	0	0	1	0	19	98				
COPS6	10980	broad.mit.edu	37	7	99688878	99688878	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99688878G>T	ENST00000303904.3	+	8	704	c.667G>T	c.(667-669)Gca>Tca	p.A223S	MIR93_ENST00000385024.1_RNA|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.A222S	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	223	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACACCTGATAGCACAGCACAG	0.577																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(667-669)Gca>Tca		COP9 signalosome subunit 6							212.0	196.0	201.0					7																	99688878		2203	4300	6503	SO:0001583	missense	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688878G>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.667G>T	7.37:g.99688878G>T	ENSP00000304102:p.Ala223Ser					COPS6_ENST00000418625.1_Missense_Mutation_p.A222S	p.A223S	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		8	704	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		223			Interaction with Vpr.		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	c.667G>T	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657380	0.67586	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.46451	0.87;0.87	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.56124	1.755	0.80722	D	1	P	0.41498	0.752	P	0.46452	0.517	T	0.19353	-1.0308	10	0.10377	T	0.69	-24.5327	15.6886	0.77430	0.0:0.0:1.0:0.0	.	223	Q7L5N1	CSN6_HUMAN	S	223;222	ENSP00000304102:A223S;ENSP00000400617:A222S	ENSP00000304102:A223S	A	+	1	0	COPS6	99526814	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.430000	0.90283	2.556000	0.86216	0.561000	0.74099	GCA		0.577	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		193	987	1	0	4.64646e-85	1	5.95425e-85	193	987				
ADARB2	105	broad.mit.edu	37	10	1313190	1313190	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1313190G>A	ENST00000381312.1	-	4	1477	c.1152C>T	c.(1150-1152)caC>caT	p.H384H		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	384					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TATGGCGGGCGTGCATGGGCG	0.537																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1150-1152)caC>caT		adenosine deaminase, RNA-specific, B2 (non-functional)							91.0	74.0	80.0					10																	1313190		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1313190G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1152C>T	10.37:g.1313190G>A							p.H384H	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	4	1477	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	384					B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1152C>T	CCDS7058.1																																																																																				0.537	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		20	95	0	0	0	1	0	20	95				
EGR2	1959	broad.mit.edu	37	10	64573870	64573870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573870G>T	ENST00000242480.3	-	2	853	c.528C>A	c.(526-528)ggC>ggA	p.G176G	EGR2_ENST00000411732.1_Silent_p.G126G|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Silent_p.G176G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	176					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCCTGCACAGCCAGAATAAG	0.622																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(526-528)ggC>ggA		early growth response 2							79.0	82.0	81.0					10																	64573870		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573870G>T	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.528C>A	10.37:g.64573870G>T						EGR2_ENST00000439032.1_Silent_p.G176G|EGR2_ENST00000411732.1_Silent_p.G126G	p.G176G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	853	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		176					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.528C>A	CCDS7267.1																																																																																				0.622	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		112	419	1	0	1.58909e-51	1	1.97261e-51	112	419				
MACF1	23499	broad.mit.edu	37	1	39826503	39826503	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826503C>A	ENST00000372915.3	+	47	12385	c.12298C>A	c.(12298-12300)Ctg>Atg	p.L4100M	MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000564288.1_Missense_Mutation_p.L4095M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4100					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCTATAGCCTGGCTGAGCG	0.448																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12283-12285)Ctg>Atg		microtubule-actin crosslinking factor 1							56.0	56.0	56.0					1																	39826503		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39826503C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12298C>A	1.37:g.39826503C>A	ENSP00000362006:p.Leu4100Met					MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000372915.3_Missense_Mutation_p.L4100M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M	p.L4095M			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		48	13060	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4100					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12283C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.28|11.28	1.593516|1.593516	0.28357|0.28357	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64|.	5.8|5.8	1.02|1.02	0.19986|0.19986	.|.	0.136619|.	0.30940|.	N|.	0.008565|.	T|T	0.20536|0.20536	0.0494|0.0494	N|N	0.04043|0.04043	-0.29|-0.29	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.41597|.	0.756;0.109;0.097;0.041|.	P;B;B;B|.	0.51016|.	0.656;0.061;0.055;0.059|.	T|T	0.04017|0.04017	-1.0984|-1.0984	10|5	0.45353|.	T|.	0.12|.	.|.	4.1057|4.1057	0.10035|0.10035	0.2912:0.4006:0.0:0.3082|0.2912:0.4006:0.0:0.3082	.|.	4100;2033;2033;1998|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2033;4100;2033;2033;2033;2535|1166	ENSP00000439537:L2033M;ENSP00000362006:L4100M;ENSP00000354573:L2033M;ENSP00000313438:L2033M;ENSP00000444364:L2033M;ENSP00000289893:L2535M|.	ENSP00000289893:L2535M|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39599090|39599090	0.990000|0.990000	0.36364|0.36364	0.800000|0.800000	0.32199|0.32199	0.942000|0.942000	0.58702|0.58702	1.718000|1.718000	0.38001|0.38001	0.211000|0.211000	0.20683|0.20683	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		27	200	1	0	9.39395e-14	1	1.01619e-13	27	200				
ARHGAP21	57584	broad.mit.edu	37	10	24910055	24910055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24910055C>T	ENST00000396432.2	-	9	1255	c.769G>A	c.(769-771)Gtt>Att	p.V257I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V44I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	256					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATTTTGCAACATCTGTTGGT	0.413																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(769-771)Gtt>Att		Rho GTPase activating protein 21							66.0	58.0	61.0					10																	24910055		2202	4280	6482	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24910055C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.769G>A	10.37:g.24910055C>T	ENSP00000379709:p.Val257Ile					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V44I	p.V257I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1255	-			256					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.769G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	5.651	0.304756	0.10678	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.42513	2.92;3.04;0.97;0.98	5.35	4.44	0.53790	.	0.347323	0.30999	N	0.008448	T	0.21062	0.0507	N	0.11927	0.2	0.19300	N	0.999974	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.12734	-1.0536	10	0.14656	T	0.56	.	8.1419	0.31089	0.0:0.7801:0.0:0.2199	.	247;256	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	257;246;44;247;257;92	ENSP00000379709:V257I;ENSP00000365604:V44I;ENSP00000365592:V247I;ENSP00000405018:V257I	ENSP00000365604:V44I	V	-	1	0	ARHGAP21	24950061	0.274000	0.24191	0.997000	0.53966	0.918000	0.54935	0.494000	0.22467	2.686000	0.91538	0.650000	0.86243	GTT		0.413	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		58	249	0	0	0	1	0	58	249				
NAV3	89795	broad.mit.edu	37	12	78531121	78531121	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531121T>C	ENST00000397909.2	+	19	4779	c.4606T>C	c.(4606-4608)Tca>Cca	p.S1536P	NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1536	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCATTCGGGCTCATTCAGAGA	0.488										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4606-4608)Tca>Cca		neuron navigator 3							84.0	83.0	84.0					12																	78531121		1908	4133	6041	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78531121T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4606T>C	12.37:g.78531121T>C	ENSP00000381007:p.Ser1536Pro	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P	p.S1536P			Q8IVL0	NAV3_HUMAN			19	4779	+			1536			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4606T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.510893|4.510893	0.85389|0.85389	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.35605	.|1.3;1.31;1.37;1.38;2.16	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.34268	.|U	.|0.004102	T|T	0.60881|0.60881	0.2303|0.2303	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.997;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.991;0.991;0.997;0.997	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.72032	.|D	.|0.01	-10.6286|-10.6286	16.2736|16.2736	0.82632|0.82632	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1536;1359;1536;1536	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	P|P	430|1536;1536;1536;1359;157;165	.|ENSP00000446132:S1536P;ENSP00000381007:S1536P;ENSP00000228327:S1536P;ENSP00000266692:S1359P;ENSP00000448303:S165P	.|ENSP00000228327:S1536P	L|S	+|+	2|1	0|0	NAV3|NAV3	77055252|77055252	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.737000|0.737000	0.42083|0.42083	7.719000|7.719000	0.84751|0.84751	2.247000|2.247000	0.74100|0.74100	0.477000|0.477000	0.44152|0.44152	CTC|TCA		0.488	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	400	0	0	0	1	0	12	400				
ZNF790	388536	broad.mit.edu	37	19	37309951	37309951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309951G>A	ENST00000356725.4	-	5	1415	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CGAAGCCCAAGTAAAAGTCTT	0.418																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1294-1296)aCt>aTt		zinc finger protein 790							90.0	91.0	91.0					19																	37309951		2203	4299	6502	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309951G>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1295C>T	19.37:g.37309951G>A	ENSP00000349161:p.Thr432Ile					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.T432I	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1415	-	Esophageal squamous(110;0.183)		432						Missense_Mutation	SNP	ENST00000356725.4	37	c.1295C>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232322	0.05983	.	.	ENSG00000197863	ENST00000356725	T	0.07688	3.17	3.14	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.21142	0.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46345	-0.9198	9	0.16896	T	0.51	.	0.6109	0.00761	0.4251:0.1728:0.2325:0.1696	.	432	Q6PG37	ZN790_HUMAN	I	432	ENSP00000349161:T432I	ENSP00000349161:T432I	T	-	2	0	ZNF790	42001791	0.000000	0.05858	0.009000	0.14445	0.488000	0.33401	-3.108000	0.00601	0.004000	0.14682	-0.339000	0.08088	ACT		0.418	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		16	659	0	0	0	1	0	16	659				
MAPKAPK3	7867	broad.mit.edu	37	3	50685354	50685354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50685354G>A	ENST00000446044.1	+	13	1622	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	342	Autoinhibitory helix. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.M342I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGGCCACTATGCGGGTAGACT	0.557																																						ENST00000446044.1																			1	Substitution - Missense(1)	p.M342I(1)	endometrium(1)	central_nervous_system(1)|ovary(1)	2						c.(1024-1026)atG>atA		mitogen-activated protein kinase-activated protein kinase 3							113.0	109.0	111.0					3																	50685354		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50685354G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.1026G>A	3.37:g.50685354G>A	ENSP00000396467:p.Met342Ile					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	p.M342I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	13	1622	+			342					B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.1026G>A	CCDS2832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.978411|3.978411	0.74360|0.74360	.|.	.|.	ENSG00000114738|ENSG00000114738	ENST00000451680|ENST00000446044;ENST00000357955	.|T;T	.|0.47869	.|0.83;0.83	5.88|5.88	4.99|4.99	0.66335|0.66335	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45538|0.45538	0.1347|0.1347	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|P	.|0.34629	.|0.46	.|B	.|0.28709	.|0.093	T|T	0.43228|0.43228	-0.9404|-0.9404	5|10	.|0.13853	.|T	.|0.58	-32.8874|-32.8874	15.8567|15.8567	0.78983|0.78983	0.0:0.0:0.863:0.137|0.0:0.0:0.863:0.137	.|.	.|342	.|Q16644	.|MAPK3_HUMAN	T|I	57|342	.|ENSP00000396467:M342I;ENSP00000350639:M342I	.|ENSP00000350639:M342I	A|M	+|+	1|3	0|0	MAPKAPK3|MAPKAPK3	50660358|50660358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.916000|7.916000	0.87491|0.87491	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	GCG|ATG		0.557	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		87	430	0	0	0	1	0	87	430				
JMJD1C	221037	broad.mit.edu	37	10	65225411	65225411	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:65225411C>T	ENST00000399262.2	-	1	230	c.12G>A	c.(10-12)gaG>gaA	p.E4E	JMJD1C_ENST00000399251.1_5'UTR|JMJD1C-AS1_ENST00000609436.1_RNA	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	4					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGCCCGCGTCTCTACCGCCA	0.677																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(10-12)gaG>gaA		jumonji domain containing 1C							20.0	27.0	24.0					10																	65225411		2170	4264	6434	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:65225411C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.12G>A	10.37:g.65225411C>T						JMJD1C_ENST00000399251.1_5'UTR	p.E4E	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			1	230	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		4					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.12G>A	CCDS41532.1																																																																																				0.677	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		26	169	0	0	0	1	0	26	169				
MCM3AP	8888	broad.mit.edu	37	21	47690332	47690332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47690332G>A	ENST00000397708.1	-	10	2865	c.2611C>T	c.(2611-2613)Cac>Tac	p.H871Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	871	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAGTAACAGTGTAAAAGACAA	0.408																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2611-2613)Cac>Tac		minichromosome maintenance complex component 3 associated protein							94.0	93.0	93.0					21																	47690332		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47690332G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2611C>T	21.37:g.47690332G>A	ENSP00000380820:p.His871Tyr					MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y	p.H871Y			O60318	MCM3A_HUMAN			10	2865	-	Breast(49;0.112)		871					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.2611C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768739	0.90020	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.29655	1.56;1.56	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.58847	-0.7564	10	0.54805	T	0.06	-23.8917	20.4366	0.99092	0.0:0.0:1.0:0.0	.	871	O60318	MCM3A_HUMAN	Y	871	ENSP00000380820:H871Y;ENSP00000291688:H871Y	ENSP00000291688:H871Y	H	-	1	0	MCM3AP	46514760	1.000000	0.71417	0.589000	0.28718	0.976000	0.68499	9.526000	0.98042	2.837000	0.97791	0.591000	0.81541	CAC		0.408	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		57	412	0	0	0	1	0	57	412				
RRAGA	10670	broad.mit.edu	37	9	19050016	19050016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050016C>T	ENST00000380527.1	+	1	645	c.359C>T	c.(358-360)gCc>gTc	p.A120V		NM_006570.4	NP_006561.1			Ras-related GTP binding A											endometrium(1)|large_intestine(1)|lung(1)	3						TCTCCTGACGCCAAAATCTTC	0.502																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(358-360)gCc>gTc		Ras-related GTP binding A							72.0	70.0	71.0					9																	19050016		2203	4300	6503	SO:0001583	missense	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050016C>T	BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876			16963	protein-coding gene	gene with protein product		612194				7499430, 8995684	Standard	NM_006570		Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.359C>T	9.37:g.19050016C>T	ENSP00000369899:p.Ala120Val						p.A120V	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	645	+			120						Missense_Mutation	SNP	ENST00000380527.1	37	c.359C>T	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479382	0.84747	.	.	ENSG00000155876	ENST00000380527	T	0.67523	-0.27	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.80696	0.4672	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.80141	-0.1506	10	0.44086	T	0.13	-10.7655	16.1608	0.81704	0.0:1.0:0.0:0.0	.	120	Q7L523	RRAGA_HUMAN	V	120	ENSP00000369899:A120V	ENSP00000369899:A120V	A	+	2	0	RRAGA	19040016	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.320000	0.79064	2.770000	0.95276	0.655000	0.94253	GCC		0.502	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	NM_006570		13	196	0	0	0	1	0	13	196				
NAA25	80018	broad.mit.edu	37	12	112509748	112509748	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509748C>A	ENST00000261745.4	-	10	1235	c.987G>T	c.(985-987)gaG>gaT	p.E329D	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	329						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCCTAATCAGCTCCAATTTAG	0.413																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(985-987)gaG>gaT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							162.0	131.0	142.0					12																	112509748		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112509748C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.987G>T	12.37:g.112509748C>A	ENSP00000261745:p.Glu329Asp						p.E329D	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			10	1235	-			329					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.987G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489392	0.84962	.	.	ENSG00000111300	ENST00000261745	T	0.51817	0.69	5.8	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.61327	-0.7085	10	0.23891	T	0.37	-15.658	9.4966	0.38993	0.0:0.7761:0.0:0.2239	.	329	Q14CX7	NAA25_HUMAN	D	329	ENSP00000261745:E329D	ENSP00000261745:E329D	E	-	3	2	NAA25	110994131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.156000	0.31712	0.730000	0.32425	0.655000	0.94253	GAG		0.413	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		53	159	1	0	9.59835e-30	1	1.1228e-29	53	159				
ZNF677	342926	broad.mit.edu	37	19	53741428	53741428	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741428C>T	ENST00000598513.1	-	5	702	c.552G>A	c.(550-552)gtG>gtA	p.V184V	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Silent_p.V184V	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CAAAACACTTCACGTATTTGT	0.348																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(550-552)gtG>gtA		zinc finger protein 677							71.0	68.0	69.0					19																	53741428		2202	4300	6502	SO:0001819	synonymous_variant	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741428C>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.552G>A	19.37:g.53741428C>T						ZNF677_ENST00000598513.1_Silent_p.V184V	p.V184V			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	717	-			184						Silent	SNP	ENST00000598513.1	37	c.552G>A	CCDS12861.1																																																																																				0.348	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		10	313	0	0	0	1	0	10	313				
NDNF	79625	broad.mit.edu	37	4	121958586	121958586	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121958586T>G	ENST00000379692.4	-	4	1066	c.540A>C	c.(538-540)ccA>ccC	p.P180P	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	180					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CATCTACTCTTGGGTCATAGG	0.488																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(538-540)ccA>ccC		neuron-derived neurotrophic factor							198.0	199.0	198.0					4																	121958586		2065	4221	6286	SO:0001819	synonymous_variant	79625							g.chr4:121958586T>G	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.540A>C	4.37:g.121958586T>G						NDNF_ENST00000506900.1_5'UTR	p.P180P	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1066	-			180					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.540A>C	CCDS3717.2																																																																																				0.488	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		163	637	0	0	0	1	0	163	637				
TTN	7273	broad.mit.edu	37	2	179598615	179598615	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598615A>G	ENST00000591111.1	-	51	14774	c.14550T>C	c.(14548-14550)ccT>ccC	p.P4850P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Silent_p.P5167P|TTN_ENST00000342992.6_Silent_p.P3923P			Q8WZ42	TITIN_HUMAN	titin	12233					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)			CAAAGGTTGGAGGTTCTAGTT	0.368																																						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.(15499-15501)ccT>ccC		titin							50.0	48.0	48.0					2																	179598615		1869	4102	5971	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598615A>G	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.14550T>C	2.37:g.179598615A>G						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P3923P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P4850P	p.P5167P	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)		53	15725	-			4850			Ig-like 32.		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.15501T>C																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		73	191	0	0	0	1	0	73	191				
DPY19L3	147991	broad.mit.edu	37	19	32971376	32971376	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32971376C>T	ENST00000342179.5	+	18	2117	c.1902C>T	c.(1900-1902)taC>taT	p.Y634Y	DPY19L3_ENST00000586987.1_Silent_p.Y634Y|DPY19L3_ENST00000392250.2_Silent_p.Y634Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	634						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCACTGACTACGTAATCCTGG	0.552																																						ENST00000342179.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32						c.(1900-1902)taC>taT		dpy-19-like 3 (C. elegans)							67.0	63.0	64.0					19																	32971376		2203	4300	6503	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32971376C>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1902C>T	19.37:g.32971376C>T						DPY19L3_ENST00000586987.1_Silent_p.Y634Y|DPY19L3_ENST00000392250.2_Silent_p.Y634Y	p.Y634Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN			18	2117	+	Esophageal squamous(110;0.162)		634					Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.1902C>T	CCDS12422.1																																																																																				0.552	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		9	284	0	0	0	1	0	9	284				
CACNA2D4	93589	broad.mit.edu	37	12	1992050	1992050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1992050C>T	ENST00000382722.5	-	13	1830	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	490	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCCATGTAGGCCTCTGTCCAG	0.587																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1468-1470)Gcc>Acc		calcium channel, voltage-dependent, alpha 2/delta subunit 4							80.0	85.0	83.0					12																	1992050		2134	4259	6393	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1992050C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1468G>A	12.37:g.1992050C>T	ENSP00000372169:p.Ala490Thr					CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T	p.A490T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	13	1830	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	490			Cache.		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1468G>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211218	0.95069	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08102	3.13	5.29	5.29	0.74685	Cache (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.97110	0.941;1.0	T	0.00948	-1.1504	10	0.59425	D	0.04	.	18.9435	0.92612	0.0:1.0:0.0:0.0	.	490;490	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	T	426;490;490	ENSP00000372169:A490T	ENSP00000280663:A490T	A	-	1	0	CACNA2D4	1862311	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.457000	0.83068	0.462000	0.41574	GCC		0.587	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			19	120	0	0	0	1	0	19	120				
MED9	55090	broad.mit.edu	37	17	17380439	17380439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17380439G>A	ENST00000268711.3	+	1	140	c.84G>A	c.(82-84)aaG>aaA	p.K28K	MED9_ENST00000580462.1_Silent_p.K28K|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	28	Pro-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ctgacaccaagccgctgccgc	0.721																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(82-84)aaG>aaA		mediator complex subunit 9							12.0	14.0	13.0					17																	17380439		2191	4278	6469	SO:0001819	synonymous_variant	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17380439G>A	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.84G>A	17.37:g.17380439G>A						MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Silent_p.K28K	p.K28K	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			1	140	+			28			Pro-rich.			Silent	SNP	ENST00000268711.3	37	c.84G>A	CCDS11184.1																																																																																				0.721	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		36	94	0	0	0	1	0	36	94				
ANKRD24	170961	broad.mit.edu	37	19	4202024	4202024	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4202024T>C	ENST00000600132.1	+	6	621	c.345T>C	c.(343-345)ggT>ggC	p.G115G	ANKRD24_ENST00000318934.4_Splice_Site_p.G115G|ANKRD24_ENST00000262970.5_Splice_Site_p.G205G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	115										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCCCCAGGTTACAATGCCC	0.512																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.e6-1		ankyrin repeat domain 24							92.0	86.0	88.0					19																	4202024		1914	4117	6031	SO:0001630	splice_region_variant	170961							g.chr19:4202024T>C	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.344-1T>C	19.37:g.4202024T>C						ANKRD24_ENST00000318934.4_Splice_Site_p.G115_splice|ANKRD24_ENST00000262970.5_Splice_Site_p.G205_splice	p.G115_splice	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	6	621	+			115					O75268|O95781	Splice_Site	SNP	ENST00000600132.1	37	c.343_splice	CCDS45925.1																																																																																				0.512	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	Silent	47	391	0	0	0	1	0	47	391				
BTNL3	10917	broad.mit.edu	37	5	180424301	180424301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424301G>T	ENST00000342868.6	+	3	670	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	162	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGTTCCCCCAGCCCACAGCCA	0.512																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(484-486)caG>caT		butyrophilin-like 3							108.0	97.0	101.0					5																	180424301		2149	3950	6099	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180424301G>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.486G>T	5.37:g.180424301G>T	ENSP00000341787:p.Gln162His						p.Q162H	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	670	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	162			Ig-like V-type.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.486G>T	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160223	0.38119	.	.	ENSG00000168903	ENST00000342868	T	0.41065	1.01	3.9	0.271	0.15640	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39809	0.1092	M	0.68952	2.095	0.09310	N	1	P	0.44578	0.838	B	0.41691	0.364	T	0.28299	-1.0048	9	0.72032	D	0.01	.	7.3458	0.26662	0.4953:0.0:0.5047:0.0	.	162	Q6UXE8	BTNL3_HUMAN	H	162	ENSP00000341787:Q162H	ENSP00000341787:Q162H	Q	+	3	2	BTNL3	180356907	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.115000	0.10741	-0.086000	0.12550	0.531000	0.56144	CAG		0.512	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		15	506	1	0	1.05317e-09	1	1.11087e-09	15	506				
TACC2	10579	broad.mit.edu	37	10	123842452	123842452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842452C>A	ENST00000369005.1	+	4	777	c.437C>A	c.(436-438)gCc>gAc	p.A146D	TACC2_ENST00000515603.1_Missense_Mutation_p.A146D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D|TACC2_ENST00000334433.3_Missense_Mutation_p.A146D|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	146					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCCAAATGCCCCAGGAGAC	0.607																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(436-438)gCc>gAc		transforming, acidic coiled-coil containing protein 2							47.0	49.0	48.0					10																	123842452		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842452C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.437C>A	10.37:g.123842452C>A	ENSP00000358001:p.Ala146Asp					TACC2_ENST00000515603.1_Missense_Mutation_p.A146D|TACC2_ENST00000334433.3_Missense_Mutation_p.A146D|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D	p.A146D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	777	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	146					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.437C>A	CCDS7626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.505840|2.505840	0.44558|0.44558	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076|ENST00000491540	T;T;T;T;T|.	0.03272|.	4.01;3.99;3.99;4.01;3.99|.	5.23|5.23	-1.12|-1.12	0.09808|0.09808	.|.	1.267400|.	0.06112|.	N|.	0.667338|.	T|.	0.21186|.	0.0510|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.002;0.002;0.002|.	B;B;B|.	0.10450|.	0.005;0.005;0.005|.	T|.	0.27400|.	-1.0075|.	10|.	0.62326|.	D|.	0.03|.	1.3028|1.3028	4.8562|4.8562	0.13561|0.13561	0.2379:0.2411:0.4451:0.0759|0.2379:0.2411:0.4451:0.0759	.|.	146;146;146|.	E9PBC6;E7EMZ9;O95359|.	.;.;TACC2_HUMAN|.	D|X	146;146;146;146;146;136|159	ENSP00000358001:A146D;ENSP00000424467:A146D;ENSP00000427618:A146D;ENSP00000334280:A146D;ENSP00000395048:A146D|.	ENSP00000334280:A146D|.	A|C	+|+	2|3	0|2	TACC2|TACC2	123832442|123832442	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	0.015000|0.015000	0.13355|0.13355	-0.557000|-0.557000	0.06126|0.06126	0.544000|0.544000	0.68410|0.68410	GCC|TGC		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			9	388	1	0	0.00448238	1	0.00451339	9	388				
THADA	63892	broad.mit.edu	37	2	43805724	43805724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43805724C>T	ENST00000405006.4	-	9	1095	c.744G>A	c.(742-744)caG>caA	p.Q248Q	THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000403856.1_Silent_p.Q248Q|THADA_ENST00000330266.7_5'Flank	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	248										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATGTGCTCTGTACAGTCT	0.358																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(742-744)caG>caA		thyroid adenoma associated							67.0	67.0	67.0					2																	43805724		1835	4094	5929	SO:0001819	synonymous_variant	63892						binding	g.chr2:43805724C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.744G>A	2.37:g.43805724C>T						THADA_ENST00000405006.4_Silent_p.Q248Q|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR	p.Q248Q			Q6YHU6	THADA_HUMAN			10	891	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	248					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.744G>A	CCDS46268.1																																																																																				0.358	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		45	174	0	0	0	1	0	45	174				
FIBCD1	84929	broad.mit.edu	37	9	133779547	133779547	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133779547G>T	ENST00000372338.4	-	7	1532	c.1290C>A	c.(1288-1290)tcC>tcA	p.S430S	FIBCD1_ENST00000372337.2_Silent_p.S272S|FIBCD1_ENST00000448616.1_Silent_p.S430S|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	430	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTCGGCATAGGAGGCGTGCG	0.632																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1288-1290)tcC>tcA		fibrinogen C domain containing 1							119.0	103.0	108.0					9																	133779547		2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779547G>T	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1290C>A	9.37:g.133779547G>T						FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.S430S|FIBCD1_ENST00000372337.2_Silent_p.S272S	p.S430S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1532	-	all_hematologic(7;0.0028)		430			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1290C>A	CCDS6937.1																																																																																				0.632	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		132	515	1	0	1.50598e-64	1	1.90284e-64	132	515				
FGD1	2245	broad.mit.edu	37	X	54496845	54496845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496845G>A	ENST00000375135.3	-	4	1438	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	235	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGACCTGGGCTGGGGCCAG	0.642																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(703-705)agC>agT		FYVE, RhoGEF and PH domain containing 1							28.0	34.0	32.0					X																	54496845		2197	4286	6483	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496845G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.705C>T	X.37:g.54496845G>A							p.S235S	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			4	1438	-			235			Pro-rich.		Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.705C>T	CCDS14359.1																																																																																				0.642	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		22	85	0	0	0	1	0	22	85				
ZNF441	126068	broad.mit.edu	37	19	11892674	11892674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11892674G>A	ENST00000357901.4	+	4	2137	c.2035G>A	c.(2035-2037)Gca>Aca	p.A679T	ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGGGGAAGCATTTCATTG	0.393																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2035-2037)Gca>Aca		zinc finger protein 441							69.0	75.0	73.0					19																	11892674		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892674G>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.2035G>A	19.37:g.11892674G>A	ENSP00000350576:p.Ala679Thr					ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	p.A679T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	2137	+			679						Missense_Mutation	SNP	ENST00000357901.4	37	c.2035G>A	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	g	0.091	-1.167675	0.01660	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.60797	0.16;0.16	1.04	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.34658	0.0905	N	0.20807	0.61	0.09310	N	1	B	0.21452	0.056	B	0.20384	0.029	T	0.11916	-1.0568	9	0.33141	T	0.24	.	3.5164	0.07726	0.2866:0.0:0.4456:0.2678	.	679	Q8N8Z8	ZN441_HUMAN	T	635;679;612	ENSP00000350576:A679T;ENSP00000403738:A612T	ENSP00000350576:A679T	A	+	1	0	ZNF441	11753674	0.000000	0.05858	0.001000	0.08648	0.267000	0.26476	-1.245000	0.02899	-1.183000	0.02723	-1.842000	0.00583	GCA		0.393	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		41	178	0	0	0	1	0	41	178				
CFAP44	55779	broad.mit.edu	37	3	113115561	113115561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113115561C>T	ENST00000295868.2	-	14	1745	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Missense_Mutation_p.G528E	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATTTGTGCTCCAGTGAAGTT	0.338																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1582-1584)gGa>gAa		WD repeat domain 52																																				SO:0001583	missense	55779							g.chr3:113115561C>T																												ENST00000295868.2:c.1583G>A	3.37:g.113115561C>T	ENSP00000295868:p.Gly528Glu					WDR52_ENST00000295868.2_Missense_Mutation_p.G528E|WDR52_ENST00000475568.1_5'UTR	p.G528E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			14	1649	-			528						Missense_Mutation	SNP	ENST00000295868.2	37	c.1583G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582463	0.65992	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.71934	-0.61;0.38	5.49	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.81809	0.4901	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	D	0.84547	0.0642	9	0.87932	D	0	.	16.5094	0.84280	0.0:0.8692:0.1308:0.0	.	528	Q96MT7	WDR52_HUMAN	E	528	ENSP00000377428:G528E;ENSP00000295868:G528E	ENSP00000295868:G528E	G	-	2	0	WDR52	114598251	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	3.648000	0.54410	1.434000	0.47414	0.655000	0.94253	GGA		0.338	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			38	172	0	0	0	1	0	38	172				
AMER3	205147	broad.mit.edu	37	2	131520443	131520443	+	Silent	SNP	C	C	T	rs200772975	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131520443C>T	ENST00000423981.1	+	2	908	c.798C>T	c.(796-798)aaC>aaT	p.N266N	AMER3_ENST00000321420.4_Silent_p.N266N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	266					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGGAGCTGAACGAGGGCCCGG	0.672													C|||	4	0.000798722	0.003	0.0	5008	,	,		17385	0.0		0.0	False		,,,				2504	0.0					ENST00000423981.1																			0											c.(796-798)aaC>aaT		APC membrane recruitment protein 3		C	,,,	1,4405	2.1+/-5.4	0,1,2202	38.0	43.0	42.0		798,798,798,798	-10.4	0.0	2		42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	266/862,266/862,266/862,266/862	131520443	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520443C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.798C>T	2.37:g.131520443C>T						AMER3_ENST00000321420.4_Silent_p.N266N	p.N266N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	908	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.798C>T	CCDS2164.1																																																																																				0.672	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		111	269	0	0	0	1	0	111	269				
SOWAHB	345079	broad.mit.edu	37	4	77817328	77817328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77817328C>T	ENST00000334306.2	-	1	1674	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	559																	CCCCGCTCGGCCACAACAGCC	0.602																																						ENST00000334306.2																			0											c.(1675-1677)Gcc>Acc		sosondowah ankyrin repeat domain family member B							41.0	42.0	42.0					4																	77817328		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817328C>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1675G>A	4.37:g.77817328C>T	ENSP00000334879:p.Ala559Thr						p.A559T	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1674	-			559					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1675G>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335244	0.11013	.	.	ENSG00000186212	ENST00000334306	T	0.05025	3.51	4.96	3.05	0.35203	.	1.548280	0.05051	U	0.478157	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.34601	-0.9822	10	0.10111	T	0.7	0.1086	9.3597	0.38188	0.1518:0.7645:0.0:0.0837	.	559	A6NEL2	ANR56_HUMAN	T	559	ENSP00000334879:A559T	ENSP00000334879:A559T	A	-	1	0	ANKRD56	78036352	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	-0.962000	0.03841	1.277000	0.44412	0.591000	0.81541	GCC		0.602	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		58	196	0	0	0	1	0	58	196				
WDHD1	11169	broad.mit.edu	37	14	55455901	55455901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55455901G>T	ENST00000360586.3	-	13	1436	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*|WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	457					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATCATTATAGCAGCGAATAA	0.373																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(1369-1371)tgC>tgA		WD repeat and HMG-box DNA binding protein 1							140.0	116.0	124.0					14																	55455901		2203	4300	6503	SO:0001587	stop_gained	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55455901G>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1371C>A	14.37:g.55455901G>T	ENSP00000353793:p.Cys457*					WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*|WDHD1_ENST00000359167.4_Intron	p.C457*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			13	1436	-			457					C9JW18|F6W0U7	Nonsense_Mutation	SNP	ENST00000360586.3	37	c.1371C>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	41	8.669991	0.98908	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	.	.	.	5.28	5.28	0.74379	.	0.099841	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3974	9.0848	0.36574	0.2059:0.0:0.7941:0.0	.	.	.	.	X	457;334	.	ENSP00000353793:C457X	C	-	3	2	WDHD1	54525651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.181000	0.42547	2.465000	0.83290	0.591000	0.81541	TGC		0.373	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		47	207	1	0	8.20599e-20	1	9.16906e-20	47	207				
SLC19A1	6573	broad.mit.edu	37	21	46950795	46950795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46950795G>A	ENST00000311124.4	-	4	1192	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A347V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	347					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GACCAGCCCCGCCTGCGTGGC	0.687																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(1039-1041)gCg>gTg		solute carrier family 19 (folate transporter), member 1							16.0	18.0	17.0					21																	46950795		2180	4277	6457	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950795G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1040C>T	21.37:g.46950795G>A	ENSP00000308895:p.Ala347Val					SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A347V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V	p.A347V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	4	1192	-			347					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.1040C>T	CCDS13725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.85|18.85	3.711962|3.711962	0.68730|0.68730	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649|ENST00000417954	D;D;D|.	0.89552|.	-2.53;-2.53;-2.53|.	3.76|3.76	3.76|3.76	0.43208|0.43208	Major facilitator superfamily domain, general substrate transporter (1);|.	0.113799|.	0.64402|.	D|.	0.000016|.	D|D	0.83552|0.83552	0.5279|0.5279	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999|.	D;D;D;D|.	0.66351|.	0.922;0.922;0.943;0.922|.	D|D	0.87984|0.87984	0.2745|0.2745	10|5	0.87932|.	D|.	0|.	-24.7675|-24.7675	15.0129|15.0129	0.71562|0.71562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	307;369;347;347|.	B7Z8C3;D3DSM6;E9PFY4;P41440|.	.;.;.;S19A1_HUMAN|.	V|W	94;347;347;307|82	ENSP00000308895:A347V;ENSP00000369347:A347V;ENSP00000441772:A307V|.	ENSP00000308895:A347V|.	A|R	-|-	2|1	0|2	SLC19A1|SLC19A1	45775223|45775223	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.116000|0.116000	0.19942|0.19942	8.683000|8.683000	0.91236|0.91236	2.034000|2.034000	0.60081|0.60081	0.289000|0.289000	0.19496|0.19496	GCG|CGG		0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			20	61	0	0	0	1	0	20	61				
STYK1	55359	broad.mit.edu	37	12	10774566	10774566	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10774566G>A	ENST00000075503.3	-	10	1493	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGATACGGTGGTGCTCCTGTC	0.423										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(973-975)Cca>Tca		serine/threonine/tyrosine kinase 1							178.0	167.0	171.0					12																	10774566		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10774566G>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.973C>T	12.37:g.10774566G>A	ENSP00000075503:p.Pro325Ser	HNSCC(73;0.22)					p.P325S	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			10	1493	-			325			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.973C>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307667	0.81247	.	.	ENSG00000060140	ENST00000075503	T	0.70631	-0.5	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082542	0.51477	D	0.000083	T	0.61160	0.2325	L	0.31120	0.905	0.48632	D	0.999687	P	0.38677	0.642	B	0.43052	0.406	T	0.58584	-0.7611	10	0.02654	T	1	-12.4581	16.6127	0.84892	0.0:0.0:1.0:0.0	.	325	Q6J9G0	STYK1_HUMAN	S	325	ENSP00000075503:P325S	ENSP00000075503:P325S	P	-	1	0	STYK1	10665833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.090000	0.71397	2.514000	0.84764	0.655000	0.94253	CCA		0.423	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		81	323	0	0	0	1	0	81	323				
C1QTNF9B	387911	broad.mit.edu	37	13	24465977	24465977	+	Silent	SNP	C	C	T	rs200793733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24465977C>T	ENST00000382140.2	-	5	513	c.453G>A	c.(451-453)ccG>ccA	p.P151P	MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382137.3_Silent_p.P151P|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	151	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)		p.P151P(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCATGGGGCCCGGTAAACCAG	0.642																																						ENST00000382137.3																			1	Substitution - coding silent(1)	p.P151P(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(451-453)ccG>ccA		C1q and tumor necrosis factor related protein 9B		C	,,	1,4389		0,1,2194	15.0	22.0	20.0		453,231,258	-1.8	0.0	13		20	4,8586		0,4,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	C1QTNF9B,C1QTNF9B-AS1	NM_001007537.1,NM_001014442.2,NM_001135816.1	,,	0,5,6485	TT,TC,CC		0.0466,0.0228,0.0385	,,	151/334,77/108,86/117	24465977	5,12975	2195	4295	6490	SO:0001819	synonymous_variant	387911					collagen		g.chr13:24465977C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.453G>A	13.37:g.24465977C>T						C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Silent_p.P151P|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron	p.P151P	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	521	-			151			Collagen-like 2.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	c.453G>A	CCDS31947.1																																																																																				0.642	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		25	247	0	0	0	1	0	25	247				
SPECC1	92521	broad.mit.edu	37	17	20135688	20135688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20135688G>T	ENST00000261503.5	+	7	2372	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V	SPECC1_ENST00000395530.2_Missense_Mutation_p.G693V|SPECC1_ENST00000395529.3_Missense_Mutation_p.G774V|SPECC1_ENST00000395525.3_Missense_Mutation_p.G693V|SPECC1_ENST00000395522.2_Missense_Mutation_p.G693V|SPECC1_ENST00000536879.1_Missense_Mutation_p.G114V|SPECC1_ENST00000395527.4_Missense_Mutation_p.G774V|SPECC1_ENST00000584527.1_Missense_Mutation_p.G192V|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_3'UTR	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	774					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CAGGGCCACGGCAGGGTGGTC	0.642																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2077-2079)gGc>gTc		sperm antigen with calponin homology and coiled-coil domains 1							20.0	21.0	20.0					17																	20135688		2202	4300	6502	SO:0001583	missense	92521					nucleus		g.chr17:20135688G>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2321G>T	17.37:g.20135688G>T	ENSP00000261503:p.Gly774Val					SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395527.4_Missense_Mutation_p.G774V|SPECC1_ENST00000395522.2_Missense_Mutation_p.G693V|SPECC1_ENST00000395525.3_Missense_Mutation_p.G693V|SPECC1_ENST00000536879.1_Missense_Mutation_p.G114V|SPECC1_ENST00000395529.3_Missense_Mutation_p.G774V|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.G774V|SPECC1_ENST00000584527.1_Missense_Mutation_p.G192V	p.G693V	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	5	2286	+			774					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2078G>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173358	0.38413	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000536879;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.22	3.25	0.37280	.	0.454273	0.30639	N	0.009192	T	0.25232	0.0613	N	0.08118	0	0.49483	D	0.999797	B;P;P;P;B	0.43633	0.136;0.789;0.813;0.631;0.136	B;B;B;B;B	0.42692	0.091;0.268;0.395;0.395;0.091	T	0.10154	-1.0642	10	0.52906	T	0.07	-1.4567	10.6138	0.45439	0.0966:0.0:0.9034:0.0	.	774;693;693;774;774	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	V	774;774;774;114;693;693;693	ENSP00000261503:G774V;ENSP00000378900:G774V;ENSP00000438294:G114V;ENSP00000378893:G693V;ENSP00000378896:G693V	ENSP00000261503:G774V	G	+	2	0	SPECC1	20076280	1.000000	0.71417	0.866000	0.34008	0.636000	0.38137	3.370000	0.52372	1.365000	0.46057	0.655000	0.94253	GGC		0.642	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		29	129	1	0	5.45727e-16	1	5.98072e-16	29	129				
ZNF227	7770	broad.mit.edu	37	19	44740976	44740976	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44740976A>C	ENST00000313040.7	+	6	2598	c.2393A>C	c.(2392-2394)aAg>aCg	p.K798T	ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T|ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T|ZNF235_ENST00000589799.1_Intron	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACTGGTAAAAAGCTTTAGAAA	0.393																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(2392-2394)aAg>aCg		zinc finger protein 227							34.0	32.0	33.0					19																	44740976		2203	4294	6497	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740976A>C	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2393A>C	19.37:g.44740976A>C	ENSP00000321049:p.Lys798Thr					ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T|ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T	p.K798T	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	2598	+		Prostate(69;0.0435)	798					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.2393A>C	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723345	0.48728	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.09538	3.11;2.97	4.03	1.91	0.25777	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17789	0.0427	M	0.85630	2.765	0.80722	D	1	B;B;B;B	0.27910	0.084;0.042;0.193;0.084	B;B;B;B	0.32864	0.154;0.07;0.133;0.154	T	0.03095	-1.1073	9	0.87932	D	0	.	8.1488	0.31128	0.8131:0.0:0.1869:0.0	.	719;777;750;798	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	T	798;755;747;777;437	ENSP00000321049:K798T;ENSP00000375823:K747T	ENSP00000321049:K798T	K	+	2	0	ZNF227	49432816	0.199000	0.23386	0.214000	0.23707	0.427000	0.31564	1.410000	0.34691	0.683000	0.31428	0.379000	0.24179	AAG		0.393	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		33	164	0	0	0	1	0	33	164				
GPS1	2873	broad.mit.edu	37	17	80012478	80012478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80012478C>T	ENST00000306823.6	+	4	436	c.413C>T	c.(412-414)gCg>gTg	p.A138V	GPS1_ENST00000578552.1_Missense_Mutation_p.A134V|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000355130.2_Missense_Mutation_p.A174V|GPS1_ENST00000392358.2_Missense_Mutation_p.A174V|GPS1_ENST00000320548.4_Missense_Mutation_p.A118V			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	138					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGAAGAAGGCGCTGCTGAAG	0.652																																						ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(520-522)gCg>gTg		G protein pathway suppressor 1							32.0	27.0	29.0					17																	80012478		2194	4294	6488	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80012478C>T		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.413C>T	17.37:g.80012478C>T	ENSP00000302873:p.Ala138Val					GPS1_ENST00000320548.4_Missense_Mutation_p.A118V|GPS1_ENST00000578552.1_Missense_Mutation_p.A134V|GPS1_ENST00000355130.2_Missense_Mutation_p.A174V|GPS1_ENST00000306823.6_Missense_Mutation_p.A138V	p.A174V	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		4	870	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		138					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.521C>T	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830480	0.50845	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	.	.	.	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;1.0;0.993;1.0;1.0	P;D;D;P;D;D	0.74348	0.74;0.983;0.981;0.622;0.982;0.97	T	0.70641	-0.4816	9	0.26408	T	0.33	-27.5226	15.9283	0.79639	0.0:1.0:0.0:0.0	.	130;174;123;134;138;174	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	V	174;124;138;174;59	.	ENSP00000302873:A138V	A	+	2	0	GPS1	77605767	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	6.989000	0.76219	1.981000	0.57761	0.313000	0.20887	GCG		0.652	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		26	91	0	0	0	1	0	26	91				
OR13G1	441933	broad.mit.edu	37	1	247835702	247835702	+	Silent	SNP	G	G	T	rs138408145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835702G>T	ENST00000359688.2	-	1	663	c.642C>A	c.(640-642)tcC>tcA	p.S214S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S214S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAAAACCATAGGAGATGCAGG	0.458																																						ENST00000359688.2																			1	Substitution - coding silent(1)	p.S214S(1)	skin(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(640-642)tcC>tcA		olfactory receptor, family 13, subfamily G, member 1							103.0	97.0	99.0					1																	247835702		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835702G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.642C>A	1.37:g.247835702G>T						RP11-634B7.4_ENST00000449298.1_RNA	p.S214S	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	663	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		214					B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.642C>A	CCDS31094.1																																																																																				0.458	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		59	282	1	0	1.38909e-20	1	1.55765e-20	59	282				
SLC12A4	6560	broad.mit.edu	37	16	67980961	67980961	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67980961T>G	ENST00000316341.3	-	17	2260	c.2120A>C	c.(2119-2121)aAg>aCg	p.K707T	SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K709T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T|LCAT_ENST00000264005.5_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	707					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCGGGTACTTCACGTGGAG	0.652																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2125-2127)aAg>aCg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						28.0	24.0	25.0					16																	67980961		2197	4300	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980961T>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2120A>C	16.37:g.67980961T>G	ENSP00000318557:p.Lys707Thr					SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000316341.3_Missense_Mutation_p.K707T	p.K709T	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2165	-		Ovarian(137;0.192)	707					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2126A>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706646	0.89018	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	L	0.47078	1.49	0.80722	D	1	B;B;P;B;B;B	0.40553	0.09;0.172;0.721;0.138;0.138;0.172	B;B;P;B;B;B	0.45310	0.193;0.052;0.476;0.111;0.111;0.052	D	0.90615	0.4555	10	0.24483	T	0.36	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	709;707;676;701;707;707	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	709;676;701;707;707	ENSP00000395983:K709T;ENSP00000438334:K676T;ENSP00000445962:K701T;ENSP00000343374:K707T;ENSP00000318557:K707T	ENSP00000318557:K707T	K	-	2	0	SLC12A4	66538462	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.182000	0.58310	2.206000	0.71126	0.533000	0.62120	AAG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		11	115	0	0	0	1	0	11	115				
PTCHD2	57540	broad.mit.edu	37	1	11561540	11561540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561540G>A	ENST00000294484.6	+	2	629	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	164					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCGGCAACCGCTCGCGGCAA	0.687																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(490-492)cGc>cAc		patched domain containing 2							13.0	16.0	15.0					1																	11561540		1911	4090	6001	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561540G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.491G>A	1.37:g.11561540G>A	ENSP00000294484:p.Arg164His					PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	p.R164H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	629	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	164					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.491G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820313	0.16678	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23348	1.91;1.91	5.52	1.32	0.21799	.	0.823009	0.11554	N	0.552444	T	0.10852	0.0265	N	0.08118	0	0.23487	N	0.997573	B	0.06786	0.001	B	0.04013	0.001	T	0.35871	-0.9771	10	0.19590	T	0.45	-18.9983	5.3673	0.16121	0.243:0.2562:0.5008:0.0	.	164	Q9P2K9	PTHD2_HUMAN	H	164	ENSP00000294484:R164H;ENSP00000374226:R164H	ENSP00000294484:R164H	R	+	2	0	PTCHD2	11484127	0.979000	0.34478	0.985000	0.45067	0.372000	0.29890	0.086000	0.14935	0.292000	0.22492	-0.266000	0.10368	CGC		0.687	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		28	117	0	0	0	1	0	28	117				
TYW3	127253	broad.mit.edu	37	1	75204373	75204373	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75204373G>A	ENST00000370867.3	+	3	344		c.e3-1		TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_Splice_Site|TYW3_ENST00000457880.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)						tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						CATTTATTTAGATTGTAGCTC	0.388																																						ENST00000370867.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						c.e3-1		tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)							121.0	114.0	116.0					1																	75204373		2203	4300	6503	SO:0001630	splice_region_variant	127253				tRNA processing		methyltransferase activity	g.chr1:75204373G>A	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.256-1G>A	1.37:g.75204373G>A						TYW3_ENST00000457880.2_Intron|TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_Splice_Site		NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN			3	344	+								B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Splice_Site	SNP	ENST00000370867.3	37		CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073238	0.36566	.	.	ENSG00000162623	ENST00000370867	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYW3	74976961	1.000000	0.71417	0.983000	0.44433	0.060000	0.15804	5.848000	0.69458	2.937000	0.99478	0.650000	0.86243	.		0.388	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467	Intron	26	133	0	0	0	1	0	26	133				
SYNM	23336	broad.mit.edu	37	15	99672987	99672987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99672987C>T	ENST00000560674.1	+	5	3097	c.2628C>T	c.(2626-2628)agC>agT	p.S876S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Silent_p.S1161S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Silent_p.S1473S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1474	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						CGATCCGCAGCCGGACACAGG	0.552																																					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.(4417-4419)agC>agT		synemin, intermediate filament protein							159.0	168.0	165.0					15																	99672987		2053	4183	6236	SO:0001819	synonymous_variant	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.chr15:99672987C>T	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.2628C>T	15.37:g.99672987C>T						SYNM_ENST00000328642.7_Silent_p.S1161S|SYNM_ENST00000560674.1_Silent_p.S876S|SYNM_ENST00000561323.1_3'UTR	p.S1473S	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4539	+			1474			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37	c.4419C>T																																																																																					0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		167	952	0	0	0	1	0	167	952				
PHKG1	5260	broad.mit.edu	37	7	56151035	56151035	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56151035G>A	ENST00000297373.2	-	6	677	c.483C>T	c.(481-483)aaC>aaT	p.N161N	PHKG1_ENST00000537360.1_Silent_p.N107N|PHKG1_ENST00000452681.2_Silent_p.N193N|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGATGTTCATGTTGTCATCCA	0.557																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(577-579)aaC>aaT		phosphorylase kinase, gamma 1 (muscle)							100.0	93.0	95.0					7																	56151035		2203	4300	6503	SO:0001819	synonymous_variant	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56151035G>A	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.483C>T	7.37:g.56151035G>A						PHKG1_ENST00000297373.2_Silent_p.N161N|PHKG1_ENST00000537360.1_Silent_p.N107N	p.N193N	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	728	-	Breast(14;0.214)		161			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	c.579C>T	CCDS5525.1																																																																																				0.557	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		40	220	0	0	0	1	0	40	220				
C14orf37	145407	broad.mit.edu	37	14	58605812	58605812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605812C>A	ENST00000267485.7	-	2	459	c.265G>T	c.(265-267)Gca>Tca	p.A89S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	89						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ATCGAGAATGCTTTATTTAAT	0.478																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(265-267)Gca>Tca		chromosome 14 open reading frame 37							140.0	139.0	139.0					14																	58605812		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605812C>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.265G>T	14.37:g.58605812C>A	ENSP00000267485:p.Ala89Ser					C14orf37_ENST00000334342.5_5'UTR	p.A89S	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	459	-			89					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.265G>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341151	0.41498	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.32515	1.45	5.82	3.98	0.46160	.	0.702903	0.13150	N	0.409977	T	0.21227	0.0511	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.41848	0.435;0.763;0.435;0.435	B;B;B;B	0.36608	0.124;0.229;0.124;0.124	T	0.05550	-1.0878	10	0.21540	T	0.41	-0.5202	10.1614	0.42853	0.0:0.8479:0.0:0.1521	.	127;89;89;89	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	S	89;127	ENSP00000267485:A89S	ENSP00000267485:A89S	A	-	1	0	C14orf37	57675565	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.728000	0.26013	0.784000	0.33661	0.655000	0.94253	GCA		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		19	463	1	0	1.33834e-09	1	1.40959e-09	19	463				
MAP2K6	5608	broad.mit.edu	37	17	67513640	67513640	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67513640G>A	ENST00000590474.1	+	4	419		c.e4-1		MAP2K6_ENST00000589647.1_Splice_Site	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6						activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CTCTCTTGCAGAACTTTGAGG	0.473																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.e4-1		mitogen-activated protein kinase kinase 6							75.0	63.0	67.0					17																	67513640		2203	4300	6503	SO:0001630	splice_region_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67513640G>A	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.133-1G>A	17.37:g.67513640G>A						MAP2K6_ENST00000589647.1_Splice_Site		NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			4	419	+	Breast(10;6.05e-10)								Splice_Site	SNP	ENST00000590474.1	37		CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520818	0.85495	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8901	0.88869	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K6	65025235	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.715000	0.98748	2.634000	0.89283	0.585000	0.79938	.		0.473	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	Intron	24	128	0	0	0	1	0	24	128				
FANCA	2175	broad.mit.edu	37	16	89815125	89815125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89815125G>A	ENST00000389301.3	-	33	3320	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1097					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGCTGTTCTGCCTGGAAGCT	0.592			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(3289-3291)gCa>gTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							95.0	66.0	76.0					16																	89815125		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89815125G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3290C>T	16.37:g.89815125G>A	ENSP00000373952:p.Ala1097Val					FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	p.A1097V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	33	3320	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1097					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3290C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976831	0.34848	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84730	-1.89	4.32	-5.26	0.02772	.	0.733388	0.12716	N	0.445132	T	0.69441	0.3111	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17465	0.022;0.006;0.006	B;B;B	0.12837	0.008;0.005;0.005	T	0.56050	-0.8043	10	0.51188	T	0.08	0.0037	0.58	0.00710	0.2516:0.1259:0.2383:0.3842	.	74;1097;1097	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	V	1097;74	ENSP00000373952:A1097V	ENSP00000306281:A74V	A	-	2	0	FANCA	88342626	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-1.040000	0.03546	-0.628000	0.05582	0.462000	0.41574	GCA		0.592	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			46	175	0	0	0	1	0	46	175				
NUP188	23511	broad.mit.edu	37	9	131755939	131755939	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755939C>T	ENST00000372577.2	+	27	3004	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	995				R -> W (in Ref. 5; AAH40352). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGCAGGATCGGAGGGACAG	0.507																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2983-2985)Cgg>Tgg		nucleoporin 188kDa							109.0	87.0	94.0					9																	131755939		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131755939C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2983C>T	9.37:g.131755939C>T	ENSP00000361658:p.Arg995Trp						p.R995W	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			27	3004	+			995	R -> W (in Ref. 5; AAH40352).				Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2983C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570353	0.86542	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	T	0.62011	-0.6944	10	0.87932	D	0	0.1735	18.8488	0.92218	0.0:1.0:0.0:0.0	.	328;995	E9PET9;Q5SRE5	.;NU188_HUMAN	W	884;995	ENSP00000361658:R995W	ENSP00000349125:R884W	R	+	1	2	NUP188	130795760	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	5.400000	0.66320	2.767000	0.95098	0.655000	0.94253	CGG		0.507	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			52	219	0	0	0	1	0	52	219				
ARHGAP6	395	broad.mit.edu	37	X	11207077	11207077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11207077G>A	ENST00000337414.4	-	4	1720	c.848C>T	c.(847-849)cCc>cTc	p.P283L	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	283					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTGGGATAAGGGCATTCCAAA	0.458																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(847-849)cCc>cTc		Rho GTPase activating protein 6							81.0	66.0	71.0					X																	11207077		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11207077G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.848C>T	X.37:g.11207077G>A	ENSP00000338967:p.Pro283Leu					ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L	p.P283L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			4	1720	-			283					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.848C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370066	0.82573	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.33865	1.42;1.48;1.48;1.45;1.39;1.48;1.59;1.66	5.51	5.51	0.81932	Rho GTPase-activating protein domain (1);	0.000000	0.53938	D	0.000055	T	0.54447	0.1859	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.76494	0.994;0.987;0.998;0.997;0.999	P;P;D;P;D	0.66847	0.737;0.824;0.941;0.904;0.947	T	0.56269	-0.8007	10	0.72032	D	0.01	.	18.5172	0.90939	0.0:0.0:1.0:0.0	.	92;80;283;283;283	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	108;80;80;283;119;283;92;315	ENSP00000438135:P108L;ENSP00000370112:P80L;ENSP00000302312:P80L;ENSP00000338967:P283L;ENSP00000370093:P119L;ENSP00000370094:P283L;ENSP00000389394:P92L;ENSP00000370108:P315L	ENSP00000302312:P80L	P	-	2	0	ARHGAP6	11116998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.315000	0.78130	0.600000	0.82982	CCC		0.458	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		18	259	0	0	0	1	0	18	259				
LRFN1	57622	broad.mit.edu	37	19	39798503	39798503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798503C>T	ENST00000248668.4	-	2	2085	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	696						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTCGGCCGGGCCGCGGCTCCC	0.716																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2086-2088)Gcc>Acc		leucine rich repeat and fibronectin type III domain containing 1							6.0	8.0	7.0					19																	39798503		1814	4005	5819	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798503C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.2086G>A	19.37:g.39798503C>T	ENSP00000248668:p.Ala696Thr						p.A696T	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	2085	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		696					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.2086G>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122258	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.63096	-0.02	4.32	4.32	0.51571	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.39200	D	0.963129	P	0.38395	0.629	B	0.31101	0.124	T	0.52616	-0.8552	9	0.54805	T	0.06	.	14.3036	0.66371	0.0:1.0:0.0:0.0	.	696	Q9P244	LRFN1_HUMAN	T	696	ENSP00000248668:A696T	ENSP00000248668:A696T	A	-	1	0	LRFN1	44490343	0.003000	0.15002	0.950000	0.38849	0.046000	0.14306	1.304000	0.33482	1.971000	0.57363	0.462000	0.41574	GCC		0.716	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		17	59	0	0	0	1	0	17	59				
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(790-792)aCg>aTg		collagen, type V, alpha 1		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116.0	121.0	120.0		791	3.9	1.0	9	dbSNP_134	120	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	264/1839	137620520	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137620520C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.791C>T	9.37:g.137620520C>T	ENSP00000360882:p.Thr264Met						p.T264M	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	6	1205	+		Myeloproliferative disorder(178;0.0341)	264			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.791C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403179	0.42613	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	3.93	3.93	0.45458	.	0.890707	0.09636	U	0.775651	D	0.83166	0.5195	N	0.22421	0.69	0.80722	D	1	P	0.41265	0.744	B	0.36766	0.232	T	0.81127	-0.1074	10	0.59425	D	0.04	.	15.9158	0.79517	0.0:1.0:0.0:0.0	.	264	P20908	CO5A1_HUMAN	M	264	ENSP00000360882:T264M	ENSP00000360882:T264M	T	+	2	0	COL5A1	136760341	0.990000	0.36364	0.994000	0.49952	0.316000	0.28119	6.107000	0.71517	1.724000	0.51502	0.462000	0.41574	ACG		0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		165	863	0	0	0	1	0	165	863				
RANBP2	5903	broad.mit.edu	37	2	109383227	109383227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109383227G>T	ENST00000283195.6	+	20	6358	c.6232G>T	c.(6232-6234)Gaa>Taa	p.E2078*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2078	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATGCGAAGAGAACAAGTACT	0.423																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(6232-6234)Gaa>Taa		RAN binding protein 2							202.0	218.0	213.0					2																	109383227		2202	4291	6493	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383227G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6232G>T	2.37:g.109383227G>T	ENSP00000283195:p.Glu2078*						p.E2078*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6358	+			2078			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.6232G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	47	13.207144	0.99727	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.982	19.718	0.96131	0.0:0.0:1.0:0.0	.	.	.	.	X	1102;2078	.	ENSP00000283195:E2078X	E	+	1	0	RANBP2	108749659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.653000	0.90120	0.557000	0.71058	GAA		0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		507	1411	1	0	8.83186e-137	1	1.1375e-136	507	1411				
PLCB1	23236	broad.mit.edu	37	20	8113379	8113379	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:8113379A>C	ENST00000338037.6	+	1	108	c.81A>C	c.(79-81)aaA>aaC	p.K27N	PLCB1_ENST00000378641.3_Missense_Mutation_p.K27N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	27				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGGCACCAAATTCGTCAAGT	0.682																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(79-81)aaA>aaC		phospholipase C, beta 1 (phosphoinositide-specific)							42.0	35.0	37.0					20																	8113379		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8113379A>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.81A>C	20.37:g.8113379A>C	ENSP00000338185:p.Lys27Asn					PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N|PLCB1_ENST00000338037.6_Missense_Mutation_p.K27N	p.K27N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			1	556	+			27	MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).				D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.81A>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312533	0.40895	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	T	0.42787	0.1218	L	0.55103	1.725	0.43896	D	0.996524	B;B;D	0.60575	0.0;0.003;0.988	B;B;P	0.50754	0.002;0.007;0.649	T	0.34925	-0.9809	10	0.36615	T	0.2	.	6.0285	0.19667	0.7487:0.166:0.0853:0.0	.	27;27;26	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	N	27;27;27;26	ENSP00000367908:K27N;ENSP00000338185:K27N;ENSP00000367904:K27N;ENSP00000384001:K26N	ENSP00000338185:K27N	K	+	3	2	PLCB1	8061379	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.199000	0.42715	1.929000	0.55896	0.460000	0.39030	AAA		0.682	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			31	141	0	0	0	1	0	31	141				
ACAN	176	broad.mit.edu	37	15	89398733	89398733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89398733C>A	ENST00000561243.1	+	11	2917	c.2917C>A	c.(2917-2919)Ctc>Atc	p.L973I	ACAN_ENST00000559004.1_Missense_Mutation_p.L973I|ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000439576.2_Missense_Mutation_p.L973I			P16112	PGCA_HUMAN	aggrecan	972	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGAGACCTCAGTGGGCT	0.557																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2917-2919)Ctc>Atc		aggrecan							142.0	146.0	145.0					15																	89398733		1842	4088	5930	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398733C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2917C>A	15.37:g.89398733C>A	ENSP00000453342:p.Leu973Ile					ACAN_ENST00000559004.1_Missense_Mutation_p.L973I|ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000561243.1_Missense_Mutation_p.L973I	p.L973I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3291	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		973					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2917C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.635073	0.00806	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95788	-3.81;-3.81	4.48	-1.44	0.08856	.	1.458670	0.05162	N	0.497976	D	0.89118	0.6624	N	0.17674	0.51	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.32393	0.109;0.145	T	0.79680	-0.1702	10	0.08599	T	0.76	-2.7456	4.1285	0.10138	0.543:0.2503:0.1224:0.0842	.	973;973	E7ENV9;E7EX88	.;.	I	973	ENSP00000387356:L973I;ENSP00000341615:L973I	ENSP00000268134:L973I	L	+	1	0	ACAN	87199737	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.178000	0.03093	-0.158000	0.11040	-0.311000	0.09066	CTC		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		212	896	1	0	3.73429e-81	1	4.77757e-81	212	896				
SLFN5	162394	broad.mit.edu	37	17	33592666	33592666	+	Missense_Mutation	SNP	G	G	T	rs370593067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33592666G>T	ENST00000299977.4	+	5	2583	c.2435G>T	c.(2434-2436)aGg>aTg	p.R812M	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	812					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGCAATGAGGAAGAGAAAA	0.433																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(2434-2436)aGg>aTg		schlafen family member 5							97.0	88.0	91.0					17																	33592666		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33592666G>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2435G>T	17.37:g.33592666G>T	ENSP00000299977:p.Arg812Met					SLFN5_ENST00000542451.1_3'UTR	p.R812M	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	5	2583	+		Ovarian(249;0.17)	812					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.2435G>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	g	14.77	2.635308	0.47049	.	.	ENSG00000166750	ENST00000299977	D	0.82893	-1.66	3.14	1.11	0.20524	.	0.367861	0.19839	N	0.104889	D	0.86447	0.5935	M	0.71206	2.165	0.54753	D	0.999986	D	0.89917	1.0	D	0.65987	0.94	D	0.84056	0.0372	10	0.87932	D	0	.	4.8998	0.13769	0.2928:0.0:0.7072:0.0	.	812	Q08AF3	SLFN5_HUMAN	M	812	ENSP00000299977:R812M	ENSP00000299977:R812M	R	+	2	0	SLFN5	30616779	0.283000	0.24277	0.835000	0.33067	0.094000	0.18550	0.297000	0.19101	0.651000	0.30788	-0.126000	0.14955	AGG		0.433	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		56	325	1	0	1.67886e-27	1	1.94484e-27	56	325				
NCKAP5	344148	broad.mit.edu	37	2	133540637	133540637	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540637T>C	ENST00000409261.1	-	14	4120	c.3747A>G	c.(3745-3747)agA>agG	p.R1249R	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.R1249R|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1249										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTCATGGATCTATTATCTA	0.517																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3745-3747)agA>agG		NCK-associated protein 5							129.0	125.0	126.0					2																	133540637		1985	4166	6151	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540637T>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3747A>G	2.37:g.133540637T>C						NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.R1249R	p.R1249R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4120	-			1249					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3747A>G	CCDS46418.1																																																																																				0.517	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		51	485	0	0	0	1	0	51	485				
VGLL2	245806	broad.mit.edu	37	6	117586967	117586967	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117586967C>T	ENST00000326274.5	+	1	231	c.41C>T	c.(40-42)cCg>cTg	p.P14L	VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	14					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TATGGTCCTCCGCAGCCCTAC	0.582																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(40-42)cCg>cTg		vestigial like 2 (Drosophila)							113.0	90.0	98.0					6																	117586967		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117586967C>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.41C>T	6.37:g.117586967C>T	ENSP00000320957:p.Pro14Leu					VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	p.P14L	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	231	+			14					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.41C>T	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326846	0.81690	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.43294	0.95	5.17	4.29	0.51040	.	0.072118	0.56097	D	0.000031	T	0.22666	0.0547	L	0.27053	0.805	0.58432	D	0.999996	P;D	0.60160	0.456;0.987	B;P	0.45377	0.082;0.478	T	0.03249	-1.1056	10	0.52906	T	0.07	-8.7661	14.9909	0.71387	0.1438:0.8562:0.0:0.0	.	14;14	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	L	14	ENSP00000320957:P14L	ENSP00000320957:P14L	P	+	2	0	VGLL2	117693660	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.794000	0.47853	1.154000	0.42482	0.563000	0.77884	CCG		0.582	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		39	183	0	0	0	1	0	39	183				
SSBP2	23635	broad.mit.edu	37	5	80762814	80762814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80762814G>T	ENST00000320672.4	-	9	827	c.617C>A	c.(616-618)cCt>cAt	p.P206H	SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	206	Gly-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AGGCATTCCAGGGCCACCTAA	0.338																																						ENST00000320672.4																		SSBP2/JAK2(4)	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(616-618)cCt>cAt		single-stranded DNA binding protein 2							86.0	81.0	82.0					5																	80762814		2203	4300	6503	SO:0001583	missense	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80762814G>T	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.617C>A	5.37:g.80762814G>T	ENSP00000322977:p.Pro206His					SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H	p.P206H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	9	827	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	206			Gly-rich.|Pro-rich.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	c.617C>A	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731941	0.89390	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.964;0.968;0.964;0.968;0.998;0.999	T	0.81988	-0.0680	9	0.54805	T	0.06	-1.6827	20.6721	0.99693	0.0:0.0:1.0:0.0	.	176;184;186;159;184;206	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	H	206;176;176;159;120;112;186;184;202	.	ENSP00000322977:P206H	P	-	2	0	SSBP2	80798570	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	8.734000	0.91543	2.894000	0.99253	0.591000	0.81541	CCT		0.338	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		67	288	1	0	2.0493e-37	1	2.46103e-37	67	288				
ZNF408	79797	broad.mit.edu	37	11	46726259	46726259	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726259C>T	ENST00000311764.2	+	5	1239	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	337			R -> P (in dbSNP:rs36017347).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACACTCTCGCGGAGCCCTCC	0.612																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1009-1011)Cgg>Tgg		zinc finger protein 408							64.0	61.0	62.0					11																	46726259		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726259C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1009C>T	11.37:g.46726259C>T	ENSP00000309606:p.Arg337Trp						p.R337W	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1239	+			337		R -> P (in dbSNP:rs36017347).				Missense_Mutation	SNP	ENST00000311764.2	37	c.1009C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101267	0.56183	.	.	ENSG00000175213	ENST00000311764	T	0.11495	2.77	5.15	-4.77	0.03219	.	1.687110	0.04210	N	0.331573	T	0.06142	0.0159	N	0.24115	0.695	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.06405	0.002;0.002	T	0.38693	-0.9649	10	0.44086	T	0.13	-1.3523	2.1234	0.03731	0.2313:0.3455:0.2797:0.1436	.	329;337	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	337	ENSP00000309606:R337W	ENSP00000309606:R337W	R	+	1	2	ZNF408	46682835	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.102000	0.10956	-0.517000	0.06461	0.467000	0.42956	CGG		0.612	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		10	443	0	0	0	1	0	10	443				
CLIC2	1193	broad.mit.edu	37	X	154507346	154507346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154507346G>A	ENST00000369449.2	-	6	808	c.590C>T	c.(589-591)gCc>gTc	p.A197V	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	197	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATATTTCTTGGCAGCAACCTA	0.398																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(589-591)gCc>gTc		chloride intracellular channel 2							76.0	68.0	70.0					X																	154507346		2203	4300	6503	SO:0001583	missense	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154507346G>A	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.590C>T	X.37:g.154507346G>A	ENSP00000358460:p.Ala197Val					CLIC2_ENST00000465553.1_5'UTR	p.A197V	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			6	808	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		197			C-terminal.|GST C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	ENST00000369449.2	37	c.590C>T	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.178450	0.78564	.	.	ENSG00000155962	ENST00000369449	D	0.93906	-3.31	5.19	4.32	0.51571	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.055211	0.64402	D	0.000001	D	0.94238	0.8150	M	0.75085	2.285	0.45733	D	0.998634	D	0.65815	0.995	P	0.56514	0.8	D	0.92781	0.6240	10	0.48119	T	0.1	-9.8228	6.8635	0.24079	0.0978:0.1731:0.7291:0.0	.	197	O15247	CLIC2_HUMAN	V	197	ENSP00000358460:A197V	ENSP00000358460:A197V	A	-	2	0	CLIC2	154160540	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	4.799000	0.62517	1.115000	0.41800	-0.268000	0.10319	GCC		0.398	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		92	296	0	0	0	1	0	92	296				
ARMC12	221481	broad.mit.edu	37	6	35705059	35705059	+	Intron	SNP	G	G	A	rs56183341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35705059G>A	ENST00000373866.3	+	1	185				ARMC12_ENST00000288065.2_Silent_p.P58P|ARMC12_ENST00000373869.3_Intron|RP3-510O8.4_ENST00000452048.1_RNA			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12							nucleus (GO:0005634)											GTGAGTGTCCGGGCCCTGGGG	0.612											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	43	0.00858626	0.0295	0.0014	5008	,	,		19230	0.0		0.0	False		,,,				2504	0.0031					ENST00000288065.2																			0											c.(172-174)ccG>ccA		armadillo repeat containing 12		G		106,4300	81.9+/-120.4	1,104,2098	68.0	64.0	65.0		174	-0.4	0.0	6	dbSNP_129	65	0,8600		0,0,4300	no	coding-synonymous	C6orf81	NM_145028.3		1,104,6398	AA,AG,GG		0.0,2.4058,0.815		58/368	35705059	106,12900	2203	4300	6503	SO:0001627	intron_variant	221481						binding	g.chr6:35705059G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.163+11G>A	6.37:g.35705059G>A			OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	ARMC12_ENST00000373866.3_Intron|ARMC12_ENST00000373869.3_Intron	p.P58P	NM_145028.3	NP_659465.2	Q5T9G4	CF081_HUMAN			1	201	+			55					Q8NEB2|Q96LL8	Silent	SNP	ENST00000373866.3	37	c.174G>A																																																																																					0.612	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		45	235	0	0	0	1	0	45	235				
ADAM8	101	broad.mit.edu	37	10	135086319	135086319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135086319C>T	ENST00000445355.3	-	8	738	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M|ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	230	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ACGTGATTCACCACCTCCAGC	0.672																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(688-690)Gtg>Atg		ADAM metallopeptidase domain 8							66.0	59.0	61.0					10																	135086319		2197	4296	6493	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135086319C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.688G>A	10.37:g.135086319C>T	ENSP00000453302:p.Val230Met					ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M|ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M	p.V230M	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	8	738	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	191					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.688G>A	CCDS31319.2																																																																																				0.672	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		39	195	0	0	0	1	0	39	195				
ZC3H7B	23264	broad.mit.edu	37	22	41747608	41747608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41747608G>A	ENST00000352645.4	+	17	2249	c.1992G>A	c.(1990-1992)tgG>tgA	p.W664*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	680					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGAAGTACTGGCAGCAGATGG	0.532																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1990-1992)tgG>tgA		zinc finger CCCH-type containing 7B							58.0	50.0	53.0					22																	41747608		2203	4300	6503	SO:0001587	stop_gained	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41747608G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1992G>A	22.37:g.41747608G>A	ENSP00000345793:p.Trp664*					ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	p.W664*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			17	2249	+			680					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Nonsense_Mutation	SNP	ENST00000352645.4	37	c.1992G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	41	8.652374	0.98901	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.49	5.49	0.81192	.	0.112513	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8488	19.4218	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	664	.	ENSP00000263243:W664X	W	+	3	0	ZC3H7B	40077554	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.413000	0.97351	2.593000	0.87608	0.456000	0.33151	TGG		0.532	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		22	118	0	0	0	1	0	22	118				
SLC6A8	6535	broad.mit.edu	37	X	152960076	152960076	+	Silent	SNP	G	G	A	rs201838389		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152960076G>A	ENST00000253122.5	+	11	2060	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	SLC6A8_ENST00000430077.2_Silent_p.P413P|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	528					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCTTCACCCCGCTGGTCTGCA	0.652													G|||	2	0.000529801	0.0	0.0	3775	,	,		6348	0.0		0.002	False		,,,				2504	0.0					ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1582-1584)ccG>ccA		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						41.0	39.0	40.0					X																	152960076		2202	4294	6496	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152960076G>A		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1584G>A	X.37:g.152960076G>A						SLC6A8_ENST00000430077.2_Silent_p.P413P|SLC6A8_ENST00000485324.1_3'UTR	p.P528P	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			11	2060	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		528					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.1584G>A	CCDS14726.1																																																																																				0.652	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			73	214	0	0	0	1	0	73	214				
C15orf39	56905	broad.mit.edu	37	15	75499684	75499684	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499684C>A	ENST00000360639.2	+	2	1615	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	432						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTGTGAGGCCTGCACAGGAA	0.642																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1294-1296)cCt>cAt		chromosome 15 open reading frame 39							34.0	39.0	38.0					15																	75499684		2197	4294	6491	SO:0001583	missense	56905							g.chr15:75499684C>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1295C>A	15.37:g.75499684C>A	ENSP00000353854:p.Pro432His					C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H	p.P432H			Q6ZRI6	CO039_HUMAN			2	1615	+			432					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.1295C>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104607	0.20632	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.69926	-0.44;-0.44	4.89	3.97	0.46021	.	0.193003	0.33895	N	0.004454	T	0.72550	0.3474	L	0.60455	1.87	0.37175	D	0.903238	D	0.71674	0.998	P	0.61003	0.882	T	0.77835	-0.2440	10	0.87932	D	0	-3.5373	8.1575	0.31178	0.0:0.8921:0.0:0.1079	.	432	Q6ZRI6	CO039_HUMAN	H	432	ENSP00000353854:P432H;ENSP00000378438:P432H	ENSP00000353854:P432H	P	+	2	0	C15orf39	73286737	0.005000	0.15991	0.436000	0.26797	0.255000	0.26057	0.529000	0.23019	2.280000	0.76307	0.462000	0.41574	CCT		0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		66	376	1	0	1.12612e-26	1	1.29957e-26	66	376				
ANLN	54443	broad.mit.edu	37	7	36446155	36446155	+	Missense_Mutation	SNP	G	G	A	rs188228038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36446155G>A	ENST00000265748.2	+	4	1074	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	285	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTGGTTAATGCCTCAATTTC	0.418																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(853-855)Gcc>Acc		anillin, actin binding protein							236.0	227.0	230.0					7																	36446155		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36446155G>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.853G>A	7.37:g.36446155G>A	ENSP00000265748:p.Ala285Thr					ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	p.A285T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			4	1074	+			285			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.853G>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317863	0.40996	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.04970	3.52;3.52	4.2	4.2	0.49525	.	1.274390	0.04880	N	0.447517	T	0.08492	0.0211	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.18013	0.025;0.004;0.008;0.004	B;B;B;B	0.18561	0.022;0.005;0.011;0.005	T	0.38286	-0.9668	10	0.15952	T	0.53	-0.0437	12.2415	0.54544	0.0:0.0:0.7926:0.2074	.	162;285;285;285	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	T	285	ENSP00000265748:A285T;ENSP00000379380:A285T	ENSP00000265748:A285T	A	+	1	0	ANLN	36412680	0.149000	0.22717	0.010000	0.14722	0.936000	0.57629	3.623000	0.54224	2.634000	0.89283	0.650000	0.86243	GCC		0.418	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		201	956	0	0	0	1	0	201	956				
AMD1	262	broad.mit.edu	37	6	111213405	111213405	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111213405T>C	ENST00000368885.3	+	5	805	c.469T>C	c.(469-471)Tgg>Cgg	p.W157R	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Splice_Site_p.W128R|AMD1_ENST00000368876.1_Splice_Site_p.W88R|AMD1_ENST00000368882.3_Splice_Site_p.W9R	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	157					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTCTGACTGTTGGTATGTTTA	0.313																																						ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.e5+1		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						308.0	286.0	293.0					6																	111213405		2203	4300	6503	SO:0001630	splice_region_variant	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111213405T>C	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.470+1T>C	6.37:g.111213405T>C						AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Splice_Site_p.W9_splice|AMD1_ENST00000368877.5_Splice_Site_p.W128_splice|AMD1_ENST00000368876.1_Splice_Site_p.W88_splice	p.W157_splice	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	5	805	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	157					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Splice_Site	SNP	ENST00000368885.3	37	c.470_splice	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248273	0.80024	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000368877;ENST00000368876	.	.	.	5.3	5.3	0.74995	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.953	D	0.86902	0.2055	9	0.66056	D	0.02	.	13.8004	0.63196	0.0:0.0:0.0:1.0	.	128;157	A6NNH3;P17707	.;DCAM_HUMAN	R	157;9;128;88	.	ENSP00000357870:W88R	W	+	1	0	AMD1	111320098	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.652000	0.83633	2.003000	0.58678	0.402000	0.26972	TGG		0.313	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1		Missense_Mutation	185	754	0	0	0	1	0	185	754				
IGHV1-2	28474	broad.mit.edu	37	14	106452714	106452714	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106452714C>T	ENST00000390594.2	-	0	371									immunoglobulin heavy variable 1-2																		TCTCAGCCTGCTCAGCTCCAT	0.547																																						ENST00000390594.2																			0																				202.0	190.0	194.0					14																	106452714		2053	4199	6252			0							g.chr14:106452714C>T	X07448		14q32.33	2012-02-08			ENSG00000211934	ENSG00000211934		"""Immunoglobulins / IGH locus"""	5550	other	immunoglobulin gene							Standard	NG_001019		Approved	V35			OTTHUMG00000152320		14.37:g.106452714C>T														0	371	-									RNA	SNP	ENST00000390594.2	37																																																																																						0.547	IGHV1-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325882.1	NG_001019		135	1088	0	0	0	1	0	135	1088				
ANO9	338440	broad.mit.edu	37	11	420737	420737	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:420737G>A	ENST00000332826.6	-	18	1698	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	538					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAACTCGTCGAACAGGCTGA	0.706																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1612-1614)ttC>ttT		anoctamin 9							22.0	25.0	24.0					11																	420737		2198	4296	6494	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:420737G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1614C>T	11.37:g.420737G>A							p.F538F	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			18	1698	-			538					B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.1614C>T	CCDS31326.1																																																																																				0.706	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		24	100	0	0	0	1	0	24	100				
MAN2A2	4122	broad.mit.edu	37	15	91447469	91447469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91447469G>A	ENST00000559717.1	+	2	491	c.32G>A	c.(31-33)gGg>gAg	p.G11E	MAN2A2_ENST00000360468.3_Missense_Mutation_p.G11E			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	11					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACAGTGTGTGGGGCTGCCATC	0.567																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(31-33)gGg>gAg		mannosidase, alpha, class 2A, member 2							186.0	176.0	180.0					15																	91447469		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91447469G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.32G>A	15.37:g.91447469G>A	ENSP00000452948:p.Gly11Glu					MAN2A2_ENST00000559717.1_Missense_Mutation_p.G11E	p.G11E	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		1	50	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		11					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.32G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699651	0.96802	.	.	ENSG00000196547	ENST00000360468	T	0.78816	-1.21	5.14	5.14	0.70334	.	0.104809	0.64402	D	0.000003	D	0.85465	0.5703	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.86549	0.1833	10	0.87932	D	0	-38.6804	17.5858	0.87981	0.0:0.0:1.0:0.0	.	11;11	P49641-1;P49641	.;MA2A2_HUMAN	E	11	ENSP00000353655:G11E	ENSP00000353655:G11E	G	+	2	0	MAN2A2	89248473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.045000	0.93812	2.678000	0.91216	0.555000	0.69702	GGG		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		17	631	0	0	0	1	0	17	631				
HERPUD1	9709	broad.mit.edu	37	16	56977193	56977193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56977193C>T	ENST00000439977.2	+	8	1364	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	HERPUD1_ENST00000379792.2_Silent_p.I364I|HERPUD1_ENST00000300302.5_Silent_p.I388I|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000344114.4_Silent_p.I230I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	389					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCCCAGCCATCGCAAACTGAT	0.522			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(1165-1167)atC>atT		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							188.0	181.0	183.0					16																	56977193		2198	4300	6498	SO:0001819	synonymous_variant	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56977193C>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.1167C>T	16.37:g.56977193C>T						HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Silent_p.I388I|HERPUD1_ENST00000379792.2_Silent_p.I364I|HERPUD1_ENST00000344114.4_Silent_p.I230I	p.I389I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			8	1364	+			389					E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	ENST00000439977.2	37	c.1167C>T	CCDS10771.1																																																																																				0.522	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			200	915	0	0	0	1	0	200	915				
FRS3	10817	broad.mit.edu	37	6	41738730	41738730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41738730G>A	ENST00000373018.3	-	7	1357	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	369					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGCAGTGGGGTCTCGTC	0.667																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1105-1107)cCa>cTa		fibroblast growth factor receptor substrate 3							45.0	46.0	46.0					6																	41738730		2202	4299	6501	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738730G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1106C>T	6.37:g.41738730G>A	ENSP00000362109:p.Pro369Leu					FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	p.P369L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1357	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		369					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1106C>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099895	0.56183	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	.	0.099722	0.64402	D	0.000001	T	0.40932	0.1137	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.61874	0.895	T	0.18555	-1.0333	10	0.66056	D	0.02	-21.6613	19.5656	0.95391	0.0:0.0:1.0:0.0	.	369	O43559	FRS3_HUMAN	L	369	ENSP00000362109:P369L;ENSP00000259748:P369L	ENSP00000259748:P369L	P	-	2	0	FRS3	41846708	1.000000	0.71417	0.965000	0.40720	0.981000	0.71138	3.630000	0.54273	2.728000	0.93425	0.655000	0.94253	CCA		0.667	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		95	465	0	0	0	1	0	95	465				
TPO	7173	broad.mit.edu	37	2	1497599	1497599	+	Silent	SNP	C	C	T	rs141377851	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1497599C>T	ENST00000345913.4	+	11	1885	c.1794C>T	c.(1792-1794)tgC>tgT	p.C598C	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000349624.3_Silent_p.C425C|TPO_ENST00000346956.3_Silent_p.C598C|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000337415.3_Silent_p.C598C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	598					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGTTCTGCGGCCTGCCTC	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17548	0.0		0.0	False		,,,				2504	0.0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1792-1794)tgC>tgT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	C	,,,,,	22,4384	29.9+/-59.1	1,20,2182	51.0	47.0	49.0		1794,1794,1623,1623,1794,1275	-6.8	0.0	2	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	,,,,,	1,20,6482	TT,TC,CC		0.0,0.4993,0.1692	,,,,,	598/934,598/934,541/877,541/877,598/890,425/761	1497599	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497599C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1794C>T	2.37:g.1497599C>T						TPO_ENST00000349624.3_Silent_p.C425C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000337415.3_Silent_p.C598C|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000346956.3_Silent_p.C598C	p.C598C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1885	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	598					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1794C>T	CCDS1643.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.275	-0.990244	0.02162	0.004993	0.0	ENSG00000115705	ENST00000446278	.	.	.	4.84	-6.83	0.01693	.	.	.	.	.	T	0.63200	0.2491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66752	-0.5844	4	.	.	.	-32.4367	16.0715	0.80940	0.0:0.2598:0.0:0.7402	.	.	.	.	V	73	.	.	A	+	2	0	TPO	1476606	0.956000	0.32656	0.002000	0.10522	0.008000	0.06430	0.013000	0.13310	-1.368000	0.02149	-1.300000	0.01332	GCG		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		12	173	0	0	0	1	0	12	173				
PDLIM3	27295	broad.mit.edu	37	4	186456534	186456534	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186456534C>A	ENST00000284770.5	-	1	128	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PDLIM3_ENST00000284767.5_Missense_Mutation_p.G19W|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	19	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TCTATGCCCCCTGAGAGCCTG	0.682																																						ENST00000284767.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(55-57)Ggg>Tgg		PDZ and LIM domain 3							43.0	45.0	44.0					4																	186456534		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186456534C>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.55G>T	4.37:g.186456534C>A	ENSP00000284770:p.Gly19Trp					PDLIM3_ENST00000284770.5_Missense_Mutation_p.G19W|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W	p.G19W			Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	1	122	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	19			PDZ.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.55G>T	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833022	0.91036	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.34072	1.38;1.38;1.38	5.56	5.56	0.83823	PDZ/DHR/GLGF (4);	0.098086	0.64402	D	0.000001	T	0.72391	0.3454	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.80670	-0.1279	10	0.87932	D	0	-14.7514	19.1243	0.93376	0.0:1.0:0.0:0.0	.	19;19;19	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	W	19	ENSP00000284770:G19W;ENSP00000284771:G19W;ENSP00000284767:G19W	ENSP00000284767:G19W	G	-	1	0	PDLIM3	186693528	1.000000	0.71417	0.977000	0.42913	0.912000	0.54170	6.262000	0.72514	2.619000	0.88677	0.555000	0.69702	GGG		0.682	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		15	80	1	0	2.35188e-11	1	2.50879e-11	15	80				
PITPNM2	57605	broad.mit.edu	37	12	123498455	123498455	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123498455G>T	ENST00000542749.1	-	2	276	c.213C>A	c.(211-213)agC>agA	p.S71R	PITPNM2_ENST00000320201.4_Missense_Mutation_p.S71R|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.S71R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	71					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCGGAACCAGCTGGGAATGT	0.632																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(211-213)agC>agA		phosphatidylinositol transfer protein, membrane-associated 2							137.0	111.0	119.0					12																	123498455		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123498455G>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.213C>A	12.37:g.123498455G>T	ENSP00000437611:p.Ser71Arg					PITPNM2_ENST00000542749.1_Missense_Mutation_p.S71R|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S71R	p.S71R			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	3	418	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		71					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.213C>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095939	0.76870	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.44881	0.91;0.91;0.91	4.42	3.52	0.40303	START-like domain (1);	0.301301	0.34291	N	0.004093	T	0.47192	0.1432	L	0.50993	1.605	0.80722	D	1	P;B;P	0.50272	0.933;0.391;0.603	P;P;P	0.53313	0.723;0.579;0.521	T	0.43032	-0.9416	10	0.54805	T	0.06	-12.4612	9.8786	0.41220	0.1677:0.0:0.8323:0.0	.	71;71;71	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	R	71	ENSP00000280562:S71R;ENSP00000322218:S71R;ENSP00000437611:S71R	ENSP00000280562:S71R	S	-	3	2	PITPNM2	122064408	1.000000	0.71417	0.984000	0.44739	0.983000	0.72400	4.645000	0.61404	0.977000	0.38444	0.655000	0.94253	AGC		0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		12	353	1	0	9.05144e-12	1	9.67624e-12	12	353				
RNF123	63891	broad.mit.edu	37	3	49753586	49753586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753586C>T	ENST00000327697.6	+	34	3535	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1131					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCTGTTTGATCGTGTGGTCAC	0.582																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3391-3393)Cgt>Tgt		ring finger protein 123							94.0	80.0	85.0					3																	49753586		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753586C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3391C>T	3.37:g.49753586C>T	ENSP00000328287:p.Arg1131Cys					RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	p.R1131C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	34	3535	+			1131					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.3391C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936114	0.73442	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.73152	-0.72	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74665	-0.3589	10	0.41790	T	0.15	-12.8022	13.0939	0.59180	0.2497:0.7503:0.0:0.0	.	1131	Q5XPI4	RN123_HUMAN	C	1131;1131;243	ENSP00000328287:R1131C	ENSP00000328287:R1131C	R	+	1	0	RNF123	49728590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.451000	0.35145	2.884000	0.98904	0.655000	0.94253	CGT		0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		25	120	0	0	0	1	0	25	120				
DUSP14	11072	broad.mit.edu	37	17	35872880	35872880	+	Missense_Mutation	SNP	C	C	T	rs199902442		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35872880C>T	ENST00000487847.1	+	2	1484	c.506C>T	c.(505-507)tCg>tTg	p.S169L	DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L|DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L			O95147	DUS14_HUMAN	dual specificity phosphatase 14	169					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGGGAAGTCGACAGTTAAA	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19080	0.0		0.0	False		,,,				2504	0.0					ENST00000487847.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(505-507)tCg>tTg		dual specificity phosphatase 14							55.0	56.0	56.0					17																	35872880		2203	4300	6503	SO:0001583	missense	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872880C>T	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.506C>T	17.37:g.35872880C>T	ENSP00000466299:p.Ser169Leu					DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L|DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L	p.S169L			O95147	DUS14_HUMAN			2	1484	+		Breast(25;0.00637)|Ovarian(249;0.15)	169						Missense_Mutation	SNP	ENST00000487847.1	37	c.506C>T	CCDS11320.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.32	2.798010	0.50208	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.62232	0.04;0.04	5.97	5.97	0.96955	.	0.112497	0.56097	D	0.000034	T	0.48132	0.1483	N	0.19112	0.55	0.38696	D	0.952888	B	0.23735	0.09	B	0.10450	0.005	T	0.50882	-0.8775	10	0.87932	D	0	.	13.7953	0.63166	0.2676:0.7324:0.0:0.0	.	169	O95147	DUS14_HUMAN	L	169	ENSP00000377912:S169L;ENSP00000377910:S169L	ENSP00000377910:S169L	S	+	2	0	DUSP14	32946993	0.903000	0.30736	0.971000	0.41717	0.987000	0.75469	1.805000	0.38883	2.833000	0.97629	0.585000	0.79938	TCG		0.537	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		74	326	0	0	0	1	0	74	326				
TAS1R3	83756	broad.mit.edu	37	1	1268422	1268422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1268422C>T	ENST00000339381.5	+	4	1429	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	466					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGCTCAGTGCCCAGGCTCCAC	0.647																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1396-1398)cCc>cTc		taste receptor, type 1, member 3	Aspartame(DB00168)						55.0	52.0	53.0					1																	1268422		2199	4296	6495	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268422C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1397C>T	1.37:g.1268422C>T	ENSP00000344411:p.Pro466Leu						p.P466L	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	4	1429	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	466					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1397C>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	3.907	-0.020795	0.07634	.	.	ENSG00000169962	ENST00000339381	D	0.85339	-1.97	4.86	1.91	0.25777	.	1.236210	0.05356	N	0.532752	T	0.69486	0.3116	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.55425	-0.8143	10	0.16420	T	0.52	.	6.7099	0.23272	0.0:0.6539:0.1314:0.2147	.	466	Q7RTX0	TS1R3_HUMAN	L	466	ENSP00000344411:P466L	ENSP00000344411:P466L	P	+	2	0	TAS1R3	1258285	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.214000	0.17541	0.471000	0.27319	0.456000	0.33151	CCC		0.647	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			5	200	0	0	0	1	0	5	200				
GTF2H1	2965	broad.mit.edu	37	11	18387396	18387396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18387396C>T	ENST00000265963.4	+	15	1787	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C|GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	543					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCAGTCACGGCGTCTGATGAA	0.483								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1627-1629)Cgt>Tgt	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							144.0	122.0	130.0					11																	18387396		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18387396C>T		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1627C>T	11.37:g.18387396C>T	ENSP00000265963:p.Arg543Cys					GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C|GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C	p.R543C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			15	1787	+			543					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.1627C>T	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171966	0.78452	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496;ENST00000526630	T;T;T;T;T	0.55588	1.66;1.66;1.66;0.55;0.51	5.95	5.03	0.67393	.	0.100411	0.64402	D	0.000001	T	0.66489	0.2794	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67898	-0.5551	10	0.87932	D	0	-3.5832	15.5679	0.76309	0.0:0.9331:0.0:0.0669	.	543	P32780	TF2H1_HUMAN	C	543;427;543;231;133	ENSP00000393638:R543C;ENSP00000435375:R427C;ENSP00000265963:R543C;ENSP00000433133:R231C;ENSP00000439774:R133C	ENSP00000265963:R543C	R	+	1	0	GTF2H1	18343972	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.934000	0.75880	2.824000	0.97209	0.655000	0.94253	CGT		0.483	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		25	135	0	0	0	1	0	25	135				
WBP11P1	441818	broad.mit.edu	37	18	30092376	30092376	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30092376T>C	ENST00000567636.1	+	0	751					NR_003558.1				WW domain binding protein 11 pseudogene 1																		TGGGACGTGGTGTTCCACATT	0.567																																						ENST00000567636.1																			0																																																			0							g.chr18:30092376T>C	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092376T>C								NR_003558.1						0	751	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.567	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			62	256	0	0	0	1	0	62	256				
ZNF43	7594	broad.mit.edu	37	19	21991035	21991035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21991035C>T	ENST00000354959.4	-	4	1973	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T|ZNF43_ENST00000594012.1_Missense_Mutation_p.A596T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGGGTAAAAGCTTTGCCACAT	0.353																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1786-1788)Gct>Act		zinc finger protein 43							47.0	50.0	49.0					19																	21991035		2203	4298	6501	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991035C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1804G>A	19.37:g.21991035C>T	ENSP00000347045:p.Ala602Thr					ZNF43_ENST00000354959.4_Missense_Mutation_p.A602T|ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T	p.A596T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2300	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	602					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1786G>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	c	11.18	1.564185	0.27915	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.16897	2.31	1.76	0.623	0.17654	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.11560	0.145	0.23712	N	0.997041	B	0.33022	0.394	B	0.33121	0.158	T	0.29549	-1.0008	9	0.39692	T	0.17	.	0.8388	0.01145	0.2283:0.3779:0.2261:0.1677	.	602	P17038	ZNF43_HUMAN	T	601;602	ENSP00000347045:A602T	ENSP00000347045:A602T	A	-	1	0	ZNF43	21782875	0.000000	0.05858	0.066000	0.19879	0.802000	0.45316	-2.249000	0.01188	0.081000	0.16988	0.305000	0.20034	GCT		0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		42	204	0	0	0	1	0	42	204				
FER	2241	broad.mit.edu	37	5	108290635	108290635	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108290635T>C	ENST00000281092.4	+	12	1917		c.e12+2		FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Splice_Site	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TATGTTGATGTACGTTTCCAG	0.348																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.e12+2		fer (fps/fes related) tyrosine kinase							90.0	89.0	89.0					5																	108290635		2202	4299	6501	SO:0001630	splice_region_variant	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108290635T>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1533+2T>C	5.37:g.108290635T>C						FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Splice_Site		NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	12	1917	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)						B2RCR4|B4DSQ2|H2FLB8	Splice_Site	SNP	ENST00000281092.4	37		CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407503	0.83340	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0679	0.72011	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER	108318534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.012000	0.88631	1.941000	0.56285	0.455000	0.32223	.		0.348	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	Intron	71	350	0	0	0	1	0	71	350				
FAM198B	51313	broad.mit.edu	37	4	159091641	159091641	+	Missense_Mutation	SNP	C	C	A	rs201753633		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091641C>A	ENST00000296530.8	-	2	1508	c.887G>T	c.(886-888)aGc>aTc	p.S296I	FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	296						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCTTTCCTGCTCACAGACGG	0.502											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(886-888)aGc>aTc		family with sequence similarity 198, member B							64.0	70.0	68.0					4																	159091641		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159091641C>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.887G>T	4.37:g.159091641C>A	ENSP00000296530:p.Ser296Ile		OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I|FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I|FAM198B_ENST00000589306.1_Intron	p.S296I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	1508	-			296					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.887G>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658859	0.88154	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.34072	1.38;1.38	5.4	5.4	0.78164	.	0.079566	0.85682	D	0.000000	T	0.61899	0.2384	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.988;0.992;0.978	T	0.64605	-0.6368	10	0.72032	D	0.01	-22.296	19.2318	0.93843	0.0:1.0:0.0:0.0	.	296;296;296	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	I	296	ENSP00000296530:S296I;ENSP00000377396:S296I	ENSP00000296530:S296I	S	-	2	0	FAM198B	159311091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.458000	0.66679	2.536000	0.85505	0.558000	0.71614	AGC		0.502	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		76	377	1	0	9.59377e-39	1	1.15749e-38	76	377				
OAF	220323	broad.mit.edu	37	11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	172						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(514-516)cGc>cAc		OAF homolog (Drosophila)							43.0	38.0	39.0					11																	120097673		2203	4300	6503	SO:0001583	missense	220323							g.chr11:120097673G>A	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.515G>A	11.37:g.120097673G>A	ENSP00000332613:p.Arg172His					OAF_ENST00000531220.1_Missense_Mutation_p.R56H	p.R172H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	3	1028	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	172						Missense_Mutation	SNP	ENST00000328965.4	37	c.515G>A	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229765	0.79688	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.47177	0.85;0.85	5.3	4.39	0.52855	.	0.108226	0.64402	D	0.000008	T	0.68933	0.3055	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.74210	-0.3739	10	0.87932	D	0	-20.0037	13.8657	0.63588	0.0738:0.0:0.9262:0.0	.	172	Q86UD1	OAF_HUMAN	H	172;56	ENSP00000332613:R172H;ENSP00000431865:R56H	ENSP00000332613:R172H	R	+	2	0	OAF	119602883	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	9.402000	0.97298	1.228000	0.43614	0.462000	0.41574	CGC		0.647	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		42	189	0	0	0	1	0	42	189				
STARD8	9754	broad.mit.edu	37	X	67937991	67937991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67937991A>G	ENST00000252336.6	+	5	1367	c.995A>G	c.(994-996)gAc>gGc	p.D332G	STARD8_ENST00000374597.3_Missense_Mutation_p.D332G|STARD8_ENST00000374599.3_Missense_Mutation_p.D412G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	332					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATGTACCCAGACCTGGGGCCT	0.577																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(994-996)gAc>gGc		StAR-related lipid transfer (START) domain containing 8							50.0	45.0	47.0					X																	67937991		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937991A>G	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.995A>G	X.37:g.67937991A>G	ENSP00000252336:p.Asp332Gly					STARD8_ENST00000374599.3_Missense_Mutation_p.D412G|STARD8_ENST00000374597.3_Missense_Mutation_p.D332G	p.D332G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1367	+			332					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.995A>G	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646943	0.29246	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10477	2.87;2.89;2.87	4.4	4.4	0.53042	.	0.374529	0.28026	N	0.016882	T	0.13543	0.0328	L	0.56769	1.78	0.31714	N	0.639101	B;B	0.33238	0.403;0.281	B;B	0.36289	0.221;0.11	T	0.05305	-1.0893	10	0.44086	T	0.13	.	10.6264	0.45510	1.0:0.0:0.0:0.0	.	412;332	Q92502-2;Q92502	.;STAR8_HUMAN	G	332;412;332	ENSP00000252336:D332G;ENSP00000363727:D412G;ENSP00000363725:D332G	ENSP00000252336:D332G	D	+	2	0	STARD8	67854716	0.995000	0.38212	0.886000	0.34754	0.744000	0.42396	3.846000	0.55888	1.629000	0.50426	0.486000	0.48141	GAC		0.577	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		45	125	0	0	0	1	0	45	125				
PCOLCE	5118	broad.mit.edu	37	7	100201161	100201161	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201161G>A	ENST00000223061.5	+	2	484	c.204G>A	c.(202-204)acG>acA	p.T68T	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	68	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGACCATAACGGTGAGAAACC	0.592																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.e2+1		procollagen C-endopeptidase enhancer							70.0	59.0	63.0					7																	100201161		2203	4300	6503	SO:0001630	splice_region_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100201161G>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.204+1G>A	7.37:g.100201161G>A						PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	p.T68_splice	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			2	484	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		68			CUB 1.		B2R9E1|O14550	Splice_Site	SNP	ENST00000223061.5	37	c.204_splice	CCDS5700.1																																																																																				0.592	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593	Silent	21	176	0	0	0	1	0	21	176				
SUPT5H	6829	broad.mit.edu	37	19	39964966	39964966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39964966C>T	ENST00000599117.1	+	28	3111	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V|SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	915	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACCAGGTGGCGCCAAGCCCA	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2743-2745)gCg>gTg		suppressor of Ty 5 homolog (S. cerevisiae)							82.0	76.0	78.0					19																	39964966		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39964966C>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2744C>T	19.37:g.39964966C>T	ENSP00000470252:p.Ala915Val		OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V|SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V	p.A915V			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		28	3111	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		915			10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2744C>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898806	0.72639	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.056626	0.64402	D	0.000002	T	0.67192	0.2867	M	0.62723	1.935	0.80722	D	1	D;D;D	0.61697	0.977;0.986;0.99	B;P;P	0.54431	0.269;0.752;0.57	T	0.67764	-0.5586	8	.	.	.	-28.4569	16.8495	0.85990	0.0:1.0:0.0:0.0	.	707;911;915	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	V	915;911;893;915	.	.	A	+	2	0	SUPT5H	44656806	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	5.707000	0.68370	2.515000	0.84797	0.462000	0.41574	GCG		0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		63	259	0	0	0	1	0	63	259				
VPS18	57617	broad.mit.edu	37	15	41194882	41194882	+	Silent	SNP	G	G	A	rs202073150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41194882G>A	ENST00000220509.5	+	5	2604	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	755					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCAAGAAGCTGTGGCTGAAGA	0.582																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2263-2265)ctG>ctA		vacuolar protein sorting 18 homolog (S. cerevisiae)							150.0	127.0	135.0					15																	41194882		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41194882G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2265G>A	15.37:g.41194882G>A						VPS18_ENST00000558474.1_3'UTR	p.L755L	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	5	2604	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	755					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.2265G>A	CCDS10069.1																																																																																				0.582	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			12	195	0	0	0	1	0	12	195				
RPS6KA5	9252	broad.mit.edu	37	14	91338562	91338562	+	Silent	SNP	C	C	T	rs144832163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91338562C>T	ENST00000261991.3	-	17	2438	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	RPS6KA5_ENST00000536315.2_Silent_p.T676T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	755					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AACTGCTGCGCGTCTCGGTAC	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		18508	0.0		0.002	False		,,,				2504	0.0					ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2263-2265)acG>acA		ribosomal protein S6 kinase, 90kDa, polypeptide 5		C		1,4405	2.1+/-5.4	0,1,2202	144.0	125.0	132.0		2265	-10.2	0.7	14	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RPS6KA5	NM_004755.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		755/803	91338562	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338562C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2265G>A	14.37:g.91338562C>T						RPS6KA5_ENST00000536315.2_Silent_p.T676T	p.T755T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2438	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	755					O95316|Q96AF7	Silent	SNP	ENST00000261991.3	37	c.2265G>A	CCDS9893.1																																																																																				0.473	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		10	349	0	0	0	1	0	10	349				
C1QTNF3	114899	broad.mit.edu	37	5	34033554	34033554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033554C>T	ENST00000231338.7	-	3	293	c.206G>A	c.(205-207)gGa>gAa	p.G69E	C1QTNF3_ENST00000513065.1_5'Flank|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.G53E|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.G142E	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	69	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GCCATTGTTTCCATGGTTTCC	0.483																																						ENST00000382065.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17						c.(424-426)gGa>gAa		C1q and tumor necrosis factor related protein 3							139.0	141.0	140.0					5																	34033554		2203	4300	6503	SO:0001583	missense	114899					collagen		g.chr5:34033554C>T	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.206G>A	5.37:g.34033554C>T	ENSP00000231338:p.Gly69Glu					C1QTNF3_ENST00000231338.7_Missense_Mutation_p.G69E	p.G142E	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN			3	1131	-	all_lung(31;0.0207)		69			C1q.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	ENST00000231338.7	37	c.425G>A	CCDS3904.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732027	0.89390	.	.	ENSG00000082196	ENST00000382056;ENST00000382065;ENST00000231338	D;D	0.99353	-5.77;-5.77	5.39	5.39	0.77823	.	.	.	.	.	D	0.99670	0.9877	H	0.96889	3.9	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.97591	1.0117	9	0.87932	D	0	.	19.5146	0.95157	0.0:1.0:0.0:0.0	.	142;69	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	E	46;142;69	ENSP00000371497:G142E;ENSP00000231338:G69E	ENSP00000231338:G69E	G	-	2	0	C1QTNF3	34069311	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.445000	0.66594	2.690000	0.91761	0.655000	0.94253	GGA		0.483	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		73	412	0	0	0	1	0	73	412				
NLRP7	199713	broad.mit.edu	37	19	55451160	55451160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451160C>A	ENST00000590030.1	-	3	1067	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S|NLRP7_ENST00000446217.1_Missense_Mutation_p.A371S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S|NLRP7_ENST00000328092.5_Missense_Mutation_p.A343S|NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A343S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	343	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCACGCATGGCTTGGTCCTCG	0.617																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1111-1113)Gcc>Tcc		NLR family, pyrin domain containing 7							32.0	34.0	33.0					19																	55451160		2202	4293	6495	SO:0001583	missense	199713						ATP binding	g.chr19:55451160C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1027G>T	19.37:g.55451160C>A	ENSP00000465520:p.Ala343Ser					NLRP7_ENST00000328092.5_Missense_Mutation_p.A343S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S|NLRP7_ENST00000590030.1_Missense_Mutation_p.A343S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A343S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S|NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S	p.A371S			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1513	-			343			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1111G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649372	0.47362	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	2.19	-0.0395	0.13875	NACHT nucleoside triphosphatase (1);	0.000000	0.31976	N	0.006779	D	0.84584	0.5504	M	0.72353	2.195	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.73132	-0.4079	10	0.52906	T	0.07	.	4.9523	0.14021	0.0:0.6391:0.2201:0.1409	.	371;343;343;343	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	S	343;343;343;371;110	ENSP00000329568:A343S;ENSP00000409137:A343S;ENSP00000339491:A343S;ENSP00000414273:A371S	ENSP00000329568:A343S	A	-	1	0	NLRP7	60142972	0.988000	0.35896	0.000000	0.03702	0.006000	0.05464	3.733000	0.55029	0.056000	0.16144	0.462000	0.41574	GCC		0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		57	232	1	0	1.08241e-25	1	1.24348e-25	57	232				
AEBP1	165	broad.mit.edu	37	7	44153429	44153429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153429C>T	ENST00000223357.3	+	21	3351	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1016	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCCAACAGCGACGCCTGCA	0.662																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3046-3048)Cga>Tga		AE binding protein 1							86.0	92.0	90.0					7																	44153429		2203	4300	6503	SO:0001587	stop_gained	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153429C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3046C>T	7.37:g.44153429C>T	ENSP00000223357:p.Arg1016*					AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*	p.R1016*	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3351	+			1016			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Nonsense_Mutation	SNP	ENST00000223357.3	37	c.3046C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	43	9.986870	0.99312	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	.	.	.	5.33	2.51	0.30379	.	0.321128	0.27730	N	0.018100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.3185	14.3421	0.66633	0.3866:0.6133:0.0:0.0	.	.	.	.	X	1016;591	.	ENSP00000223357:R1016X	R	+	1	2	AEBP1	44119954	0.002000	0.14202	0.748000	0.31131	0.801000	0.45260	1.374000	0.34283	0.230000	0.21059	-0.270000	0.10280	CGA		0.662	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		120	541	0	0	0	1	0	120	541				
GCDH	2639	broad.mit.edu	37	19	13004378	13004378	+	Missense_Mutation	SNP	C	C	T	rs139851890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13004378C>T	ENST00000222214.5	+	6	627	c.416C>T	c.(415-417)tCg>tTg	p.S139L	GCDH_ENST00000422947.2_Missense_Mutation_p.S95L|GCDH_ENST00000457854.1_Missense_Mutation_p.S139L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	139	Substrate binding.		S -> L (in GA1).		cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GGCTACAGGTCGGCGATGAGT	0.622																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19	GRCh37	CM980855	GCDH	M	rs139851890	c.(415-417)tCg>tTg		glutaryl-CoA dehydrogenase		C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	130.0	98.0	109.0		416,416	5.2	1.0	19	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	GCDH	NM_000159.2,NM_013976.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	139/439,139/429	13004378	1,13005	2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13004378C>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.416C>T	19.37:g.13004378C>T	ENSP00000222214:p.Ser139Leu					GCDH_ENST00000422947.2_Missense_Mutation_p.S95L|GCDH_ENST00000457854.1_Missense_Mutation_p.S139L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L	p.S139L			Q92947	GCDH_HUMAN			6	627	+			139		S -> L (in GA1).	Substrate binding.		A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.416C>T	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491649	0.96339	2.27E-4	0.0	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99652	-6.3;-6.3;-6.3	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.985;1.0;1.0	D	0.98006	1.0363	10	0.87932	D	0	.	16.567	0.84601	0.0:1.0:0.0:0.0	.	95;106;139;139	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	L	139;139;106;95	ENSP00000394872:S139L;ENSP00000222214:S139L;ENSP00000394821:S95L	ENSP00000222214:S139L	S	+	2	0	GCDH	12865378	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	7.247000	0.78257	2.584000	0.87258	0.563000	0.77884	TCG		0.622	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			49	414	0	0	0	1	0	49	414				
INO80B	83444	broad.mit.edu	37	2	74682672	74682672	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74682672G>T	ENST00000233331.7	+	2	292	c.198G>T	c.(196-198)aaG>aaT	p.K66N	INO80B_ENST00000469849.1_Intron|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000233615.2_5'Flank|INO80B_ENST00000409917.1_Missense_Mutation_p.K66N	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	66					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCCCTGCCAAGCCTCAGCTCA	0.507																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(196-198)aaG>aaT		INO80 complex subunit B							43.0	57.0	52.0					2																	74682672		2203	4300	6503	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74682672G>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.198G>T	2.37:g.74682672G>T	ENSP00000233331:p.Lys66Asn					INO80B_ENST00000409917.1_Missense_Mutation_p.K66N|INO80B_ENST00000469849.1_Intron	p.K66N	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			2	292	+			66						Missense_Mutation	SNP	ENST00000233331.7	37	c.198G>T	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841789	0.51057	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.50001	0.77;0.76;0.78;0.76	5.56	3.7	0.42460	.	0.242001	0.40469	N	0.001081	T	0.34513	0.0900	L	0.39898	1.24	0.36444	D	0.865667	B;B;B;B	0.32245	0.361;0.037;0.037;0.022	B;B;B;B	0.29942	0.109;0.017;0.017;0.037	T	0.36720	-0.9736	10	0.31617	T	0.26	-18.2847	8.6538	0.34051	0.0806:0.0:0.7685:0.1508	.	84;66;66;66	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	N	66;66;66;71	ENSP00000233331:K66N;ENSP00000389887:K66N;ENSP00000387267:K66N;ENSP00000386937:K71N	ENSP00000233331:K66N	K	+	3	2	INO80B	74536180	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.354000	0.34056	1.353000	0.45828	0.563000	0.77884	AAG		0.507	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		11	340	1	0	5.16669e-11	1	5.49905e-11	11	340				
TUBE1	51175	broad.mit.edu	37	6	112397143	112397143	+	Missense_Mutation	SNP	G	G	A	rs376900146		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112397143G>A	ENST00000368662.5	-	8	887	c.809C>T	c.(808-810)aCg>aTg	p.T270M	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	270					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	GAATTACCTCGTTAGGTTGAG	0.333																																						ENST00000368662.5																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(808-810)aCg>aTg		tubulin, epsilon 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	100.0	105.0	104.0		809	5.7	1.0	6		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBE1	NM_016262.4	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	270/476	112397143	2,13004	2203	4300	6503	SO:0001583	missense	51175				centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton	g.chr6:112397143G>A	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.809C>T	6.37:g.112397143G>A	ENSP00000357651:p.Thr270Met					TUBE1_ENST00000604814.1_5'UTR	p.T270M	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	8	887	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	270					Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	c.809C>T	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733802	0.89482	2.27E-4	1.16E-4	ENSG00000074935	ENST00000368662	T	0.73047	-0.71	5.7	5.7	0.88788	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90182	0.4243	10	0.87932	D	0	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	270	Q9UJT0	TBE_HUMAN	M	270	ENSP00000357651:T270M	ENSP00000357651:T270M	T	-	2	0	TUBE1	112503836	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.328000	0.96403	2.677000	0.91161	0.650000	0.86243	ACG		0.333	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		84	348	0	0	0	1	0	84	348				
ASTN1	460	broad.mit.edu	37	1	176992704	176992704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992704C>T	ENST00000367654.3	-	7	1485	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	425					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGAAGCGGCTCCCTGCAGG	0.557																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1273-1275)aGc>aAc		astrotactin 1							39.0	37.0	37.0					1																	176992704		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992704C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1274G>A	1.37:g.176992704C>T	ENSP00000356626:p.Ser425Asn					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N	p.S425N			O14525	ASTN1_HUMAN			7	1287	-			425					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1274G>A		.	.	.	.	.	.	.	.	.	.	C	16.80	3.221929	0.58560	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.21191	2.02;2.43;2.43;2.03	5.77	5.77	0.91146	.	0.181563	0.64402	D	0.000014	T	0.33556	0.0867	L	0.32530	0.975	0.50171	D	0.999858	D;D;P	0.63046	0.992;0.977;0.886	P;P;P	0.57009	0.811;0.709;0.461	T	0.02020	-1.1228	10	0.72032	D	0.01	-30.8582	19.5786	0.95455	0.0:1.0:0.0:0.0	.	425;425;425	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	425	ENSP00000356629:S425N;ENSP00000354536:S425N;ENSP00000356626:S425N;ENSP00000395041:S425N	ENSP00000354536:S425N	S	-	2	0	ASTN1	175259327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.921000	0.63397	2.726000	0.93360	0.655000	0.94253	AGC		0.557	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		16	123	0	0	0	1	0	16	123				
EFTUD2	9343	broad.mit.edu	37	17	42953350	42953350	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42953350G>T	ENST00000426333.2	-	10	1118	c.821C>A	c.(820-822)gCt>gAt	p.A274D	EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	274	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTGTAATAAGCATCAGTTGG	0.517																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(820-822)gCt>gAt		elongation factor Tu GTP binding domain containing 2							197.0	181.0	186.0					17																	42953350		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42953350G>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.821C>A	17.37:g.42953350G>T	ENSP00000392094:p.Ala274Asp					EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D	p.A274D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			10	1118	-		Prostate(33;0.109)	274					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.821C>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534336	0.64972	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.72051	-0.62;-0.62	4.96	4.96	0.65561	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90137	0.6918	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93564	0.6898	10	0.87932	D	0	-16.834	18.401	0.90516	0.0:0.0:1.0:0.0	.	264;274	B4DMC0;Q15029	.;U5S1_HUMAN	D	274;264;239	ENSP00000392094:A274D;ENSP00000385873:A239D	ENSP00000262414:A264D	A	-	2	0	EFTUD2	40308876	1.000000	0.71417	0.489000	0.27452	0.098000	0.18820	9.591000	0.98241	2.589000	0.87451	0.591000	0.81541	GCT		0.517	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		191	905	1	0	7.03087e-97	1	9.03877e-97	191	905				
ZNRF3	84133	broad.mit.edu	37	22	29445738	29445738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29445738C>T	ENST00000544604.2	+	8	1744	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	ZNRF3_ENST00000332811.4_Silent_p.S423S|ZNRF3_ENST00000406323.3_Silent_p.S423S|ZNRF3_ENST00000402174.1_Silent_p.S423S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	523					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ACCTGGAGAGCGGCAGCACGT	0.711																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1567-1569)agC>agT		zinc and ring finger 3							15.0	16.0	16.0					22																	29445738		2082	4198	6280	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29445738C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1569C>T	22.37:g.29445738C>T						ZNRF3_ENST00000402174.1_Silent_p.S423S|ZNRF3_ENST00000406323.3_Silent_p.S423S|ZNRF3_ENST00000332811.4_Silent_p.S423S	p.S523S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1744	+			523					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.1569C>T	CCDS56225.1																																																																																				0.711	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		8	186	0	0	0	1	0	8	186				
WDR7	23335	broad.mit.edu	37	18	54423953	54423953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54423953C>T	ENST00000254442.3	+	15	2340	c.2129C>T	c.(2128-2130)cCg>cTg	p.P710L	WDR7_ENST00000357574.3_Missense_Mutation_p.P710L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	710					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCTCTAGGCCGAATACTGCT	0.433																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(2128-2130)cCg>cTg		WD repeat domain 7							76.0	79.0	78.0					18																	54423953		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54423953C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2129C>T	18.37:g.54423953C>T	ENSP00000254442:p.Pro710Leu					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P710L	p.P710L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2340	+			710					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2129C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	9.215	1.031908	0.19590	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.2	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	N	0.03608	-0.345	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.85130	0.861;0.997	T	0.69815	-0.5043	10	0.28530	T	0.3	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	710;710	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	710	ENSP00000254442:P710L;ENSP00000350187:P710L	ENSP00000254442:P710L	P	+	2	0	WDR7	52574951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.640000	0.83355	2.826000	0.97356	0.655000	0.94253	CCG		0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			18	508	0	0	0	1	0	18	508				
SERAC1	84947	broad.mit.edu	37	6	158569911	158569911	+	Missense_Mutation	SNP	C	C	T	rs199580632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158569911C>T	ENST00000367104.3	-	5	472	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000367102.2_Missense_Mutation_p.R114Q|SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	114					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAATGGATTCCGCAGTATCTT	0.338													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17404	0.0		0.0	False		,,,				2504	0.0					ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(340-342)cGg>cAg		serine active site containing 1							157.0	125.0	136.0					6																	158569911		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158569911C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.341G>A	6.37:g.158569911C>T	ENSP00000356071:p.Arg114Gln					SERAC1_ENST00000367104.3_Missense_Mutation_p.R114Q|SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q	p.R114Q			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	5	482	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	114					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.341G>A	CCDS5255.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.225	0.803387	0.16397	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.63417	-0.04;-0.04;-0.04	5.61	0.821	0.18799	.	0.420066	0.27219	N	0.020379	T	0.36276	0.0961	M	0.68317	2.08	0.18873	N	0.999982	B	0.20671	0.047	B	0.10450	0.005	T	0.36040	-0.9764	10	0.28530	T	0.3	-3.3088	9.8395	0.40991	0.0:0.6572:0.0:0.3428	.	114	Q96JX3	SRAC1_HUMAN	Q	114	ENSP00000356069:R114Q;ENSP00000356071:R114Q;ENSP00000356068:R114Q	ENSP00000356068:R114Q	R	-	2	0	SERAC1	158489899	0.686000	0.27661	0.081000	0.20488	0.354000	0.29330	0.546000	0.23284	1.379000	0.46325	0.585000	0.79938	CGG		0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		30	150	0	0	0	1	0	30	150				
HMCN1	83872	broad.mit.edu	37	1	186113795	186113795	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186113795T>G	ENST00000271588.4	+	91	14455	c.14226T>G	c.(14224-14226)agT>agG	p.S4742R	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4742	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCGAAGGGAGTGATGTCCAGA	0.478																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14224-14226)agT>agG		hemicentin 1							121.0	113.0	115.0					1																	186113795		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186113795T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14226T>G	1.37:g.186113795T>G	ENSP00000271588:p.Ser4742Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	p.S4742R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			91	14455	+			4742			TSP type-1 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14226T>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177581	0.38413	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53640	0.61;0.61	5.82	2.16	0.27623	.	0.384313	0.33161	N	0.005202	T	0.28962	0.0719	L	0.28054	0.825	0.31056	N	0.714655	B	0.09022	0.002	B	0.12156	0.007	T	0.14062	-1.0486	10	0.48119	T	0.1	.	3.8691	0.09029	0.2546:0.1803:0.0:0.5651	.	4742	Q96RW7	HMCN1_HUMAN	R	4742	ENSP00000271588:S4742R;ENSP00000356462:S4742R	ENSP00000271588:S4742R	S	+	3	2	HMCN1	184380418	0.025000	0.19082	0.921000	0.36526	0.885000	0.51271	0.026000	0.13599	0.419000	0.25927	-0.344000	0.07964	AGT		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		81	366	0	0	0	1	0	81	366				
LTB	4050	broad.mit.edu	37	6	31548600	31548600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31548600G>A	ENST00000429299.2	-	4	628	c.621C>T	c.(619-621)ttC>ttT	p.F207F	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	207					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						CCAGGCCGCCGAACCCCACGC	0.662																																						ENST00000429299.2																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(619-621)ttC>ttT		lymphotoxin beta (TNF superfamily, member 3)	Infliximab(DB00065)|Simvastatin(DB00641)						46.0	30.0	36.0					6																	31548600		1510	2709	4219	SO:0001819	synonymous_variant	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31548600G>A	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.621C>T	6.37:g.31548600G>A						LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	p.F207F	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN			4	628	-			207					P78370|Q52LU8|Q99761	Silent	SNP	ENST00000429299.2	37	c.621C>T	CCDS4703.1																																																																																				0.662	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			39	124	0	0	0	1	0	39	124				
APC	324	broad.mit.edu	37	5	112154849	112154849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154849C>T	ENST00000457016.1	+	10	1500	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	APC_ENST00000257430.4_Missense_Mutation_p.R374W|APC_ENST00000508376.2_Missense_Mutation_p.R374W			P25054	APC_HUMAN	adenomatous polyposis coli	374	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGGAAATTCCCGGGGCAGTAA	0.517		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1120-1122)Cgg>Tgg		adenomatous polyposis coli							68.0	63.0	65.0					5																	112154849		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112154849C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1120C>T	5.37:g.112154849C>T	ENSP00000413133:p.Arg374Trp	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.R374W|APC_ENST00000508376.2_Missense_Mutation_p.R374W	p.R374W			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	10	1500	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	374			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1120C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272903	0.59649	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93859	-2.6;-3.3;-2.6;-2.6;-2.78	5.94	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.68317	2.08	0.48288	D	0.999625	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.957	D	0.96078	0.9051	10	0.87932	D	0	-11.186	16.6427	0.85130	0.1303:0.8697:0.0:0.0	.	376;374	Q4LE70;P25054	.;APC_HUMAN	W	374;356;374;374;374	ENSP00000413133:R374W;ENSP00000423224:R356W;ENSP00000257430:R374W;ENSP00000427089:R374W;ENSP00000423828:R374W	ENSP00000257430:R374W	R	+	1	2	APC	112182748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.749000	0.55150	2.832000	0.97577	0.650000	0.86243	CGG		0.517	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		11	254	0	0	0	1	0	11	254				
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000395266.1_Silent_p.F118F|SLC27A6_ENST00000506176.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(352-354)ttC>ttT		solute carrier family 27 (fatty acid transporter), member 6							82.0	62.0	69.0					5																	128302184		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302184C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.354C>T	5.37:g.128302184C>T						SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F	p.F118F			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1364	+		all_cancers(142;0.0483)|Prostate(80;0.055)	118					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.354C>T	CCDS4145.1																																																																																				0.567	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		18	184	0	0	0	1	0	18	184				
C2orf57	165100	broad.mit.edu	37	2	232458282	232458282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232458282C>A	ENST00000313965.2	+	1	708	c.620C>A	c.(619-621)gCt>gAt	p.A207D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	207										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CACCCTGAAGCTGAAGCTTTA	0.577																																						ENST00000313965.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(619-621)gCt>gAt		chromosome 2 open reading frame 57							144.0	140.0	142.0					2																	232458282		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458282C>A	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.620C>A	2.37:g.232458282C>A	ENSP00000315557:p.Ala207Asp						p.A207D	NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	708	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	207					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.620C>A	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	c	13.26	2.185264	0.38609	.	.	ENSG00000177673	ENST00000313965	T	0.20069	2.1	3.96	-1.64	0.08318	.	2.133630	0.02561	N	0.096744	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	P	0.38020	0.615	B	0.34779	0.189	T	0.07046	-1.0793	10	0.62326	D	0.03	.	0.3447	0.00339	0.2795:0.2725:0.2342:0.2138	.	207	Q53QW1	CB057_HUMAN	D	207	ENSP00000315557:A207D	ENSP00000315557:A207D	A	+	2	0	C2orf57	232166526	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.142000	0.16096	-0.509000	0.06532	0.563000	0.77884	GCT		0.577	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		186	391	1	0	1.73986e-79	1	2.2239e-79	186	391				
MEPCE	56257	broad.mit.edu	37	7	100029193	100029193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100029193C>T	ENST00000310512.2	+	1	1940	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	518	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCACCGTTCGAAAGAGGAG	0.632																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1552-1554)Cga>Tga		methylphosphate capping enzyme							36.0	33.0	34.0					7																	100029193		2203	4297	6500	SO:0001587	stop_gained	56257						methyltransferase activity	g.chr7:100029193C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1552C>T	7.37:g.100029193C>T	ENSP00000308546:p.Arg518*					MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*	p.R518*	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1940	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		518			Bin3-type SAM.		B3KP86|D6W5V7|Q9NPD4	Nonsense_Mutation	SNP	ENST00000310512.2	37	c.1552C>T	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	49	15.828728	0.99846	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	.	.	.	5.48	2.6	0.31112	.	0.763190	0.12193	N	0.490961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0106	11.4875	0.50363	0.4749:0.5251:0.0:0.0	.	.	.	.	X	49;49;518	.	ENSP00000308546:R518X	R	+	1	2	MEPCE	99867129	0.000000	0.05858	0.033000	0.17914	0.786000	0.44442	0.673000	0.25203	0.246000	0.21394	0.561000	0.74099	CGA		0.632	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			45	218	0	0	0	1	0	45	218				
PCDHB4	56131	broad.mit.edu	37	5	140503186	140503186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503186G>A	ENST00000194152.1	+	1	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGTTCTCCGGC	0.662																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1606-1608)Ggt>Agt									51.0	58.0	56.0					5																	140503186		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503186G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1606G>A	5.37:g.140503186G>A	ENSP00000194152:p.Gly536Ser						p.G536S	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1606	+			536			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1606G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372354	0.82573	.	.	ENSG00000081818	ENST00000194152	T	0.01647	4.71	3.88	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16727	0.0402	H	0.95816	3.725	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	9	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	536	Q9Y5E5	PCDB4_HUMAN	S	536	ENSP00000194152:G536S	ENSP00000194152:G536S	G	+	1	0	PCDHB4	140483370	1.000000	0.71417	0.171000	0.22900	0.664000	0.39144	9.415000	0.97375	2.189000	0.69895	0.485000	0.47835	GGT		0.662	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		128	561	0	0	0	1	0	128	561				
ZNF514	84874	broad.mit.edu	37	2	95818951	95818951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95818951C>T	ENST00000295208.2	-	3	510	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ZNF514_ENST00000411425.1_Silent_p.G16G	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						GGTTCAGCTGCCCCCACTCCC	0.517																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(46-48)ggG>ggA		zinc finger protein 514							81.0	77.0	78.0					2																	95818951		2203	4300	6503	SO:0001819	synonymous_variant	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95818951C>T	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.48G>A	2.37:g.95818951C>T						ZNF514_ENST00000411425.1_Silent_p.G16G	p.G16G	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN			3	510	-			16			KRAB.		Q5JPJ3	Silent	SNP	ENST00000295208.2	37	c.48G>A	CCDS2011.1																																																																																				0.517	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		41	393	0	0	0	1	0	41	393				
CARTPT	9607	broad.mit.edu	37	5	71015722	71015722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71015722G>A	ENST00000296777.4	+	2	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	59					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AGCGCTGCAAGAAGTCTTGAA	0.537																																						ENST00000296777.4																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(175-177)Gaa>Aaa		CART prepropeptide	Amphetamine(DB00182)						144.0	130.0	135.0					5																	71015722		2203	4300	6503	SO:0001583	missense	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71015722G>A	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.175G>A	5.37:g.71015722G>A	ENSP00000296777:p.Glu59Lys					CARTPT_ENST00000513096.1_3'UTR	p.E59K	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	2	306	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	59					Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	37	c.175G>A	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168013	0.94768	.	.	ENSG00000164326	ENST00000296777	T	0.58797	0.31	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.74917	-0.3501	10	0.66056	D	0.02	.	17.1015	0.86651	0.0:0.0:1.0:0.0	.	59	Q16568	CART_HUMAN	K	59	ENSP00000296777:E59K	ENSP00000296777:E59K	E	+	1	0	CARTPT	71051478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.966000	0.93397	2.340000	0.79590	0.655000	0.94253	GAA		0.537	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		69	335	0	0	0	1	0	69	335				
OR52N5	390075	broad.mit.edu	37	11	5799846	5799846	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799846A>C	ENST00000317093.2	-	1	51	c.19T>G	c.(19-21)Tta>Gta	p.L7V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AACCAGCATAATGAATTAAAT	0.348																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(19-21)Tta>Gta		olfactory receptor, family 52, subfamily N, member 5							56.0	56.0	56.0					11																	5799846		2111	4058	6169	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799846A>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.19T>G	11.37:g.5799846A>C	ENSP00000322866:p.Leu7Val					TRIM5_ENST00000380027.1_Intron	p.L7V	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	51	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	7					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.19T>G	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	5.988	0.366239	0.11352	.	.	ENSG00000181009	ENST00000317093	T	0.00004	9.8	3.59	-1.95	0.07548	.	0.000000	0.36854	U	0.002370	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.27823	0.19	B	0.27608	0.081	T	0.14783	-1.0460	10	0.72032	D	0.01	.	4.7112	0.12873	0.5218:0.1625:0.3156:0.0	.	7	Q8NH56	O52N5_HUMAN	V	7	ENSP00000322866:L7V	ENSP00000322866:L7V	L	-	1	2	OR52N5	5756422	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.010000	0.12743	-0.138000	0.11434	-0.539000	0.04255	TTA		0.348	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		98	368	0	0	0	1	0	98	368				
MFSD11	79157	broad.mit.edu	37	17	74771152	74771152	+	Silent	SNP	G	G	T	rs567649684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74771152G>T	ENST00000588460.1	+	11	2990	c.948G>T	c.(946-948)ctG>ctT	p.L316L	MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.L316L|MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000336509.4_Silent_p.L316L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	316						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGGGCATCCTGGTGCACTTCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19941	0.0		0.0	False		,,,				2504	0.0					ENST00000588460.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.(946-948)ctG>ctT		major facilitator superfamily domain containing 11							182.0	166.0	172.0					17																	74771152		2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74771152G>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.948G>T	17.37:g.74771152G>T						MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000336509.4_Silent_p.L316L|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000586622.1_Silent_p.L316L	p.L316L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN			11	2990	+			316					O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.948G>T	CCDS11750.1																																																																																				0.453	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		172	671	1	0	5.74082e-73	1	7.30534e-73	172	671				
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(151-153)Gct>Act		transient receptor potential cation channel, subfamily C, member 7							96.0	108.0	104.0					5																	135692925		2141	4264	6405	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692925C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.151G>A	5.37:g.135692925C>T	ENSP00000426070:p.Ala51Thr					TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	433	-			51					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.151G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.916980|4.916980	0.92249|0.92249	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82976|0.82976	0.5154|0.5154	M|M	0.86028|0.86028	2.79|2.79	0.46927|0.46927	D|D	0.999253|0.999253	D;D;P;P|.	0.69078|.	0.997;0.985;0.92;0.848|.	D;P;P;P|.	0.80764|.	0.994;0.882;0.764;0.742|.	D|D	0.84502|0.84502	0.0617|0.0617	10|5	0.59425|.	D|.	0.04|.	-13.5949|-13.5949	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51;51|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|D	51|50	ENSP00000347312:A51T;ENSP00000441628:A51T;ENSP00000426070:A51T|.	ENSP00000265193:A51T|.	A|G	-|-	1|2	0|0	TRPC7|TRPC7	135720824|135720824	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.963000|0.963000	0.63663|0.63663	7.651000|7.651000	0.83577|0.83577	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		145	726	0	0	0	1	0	145	726				
UMODL1	89766	broad.mit.edu	37	21	43508515	43508515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43508515C>T	ENST00000408910.2	+	5	715	c.715C>T	c.(715-717)Cct>Tct	p.P239S	UMODL1_ENST00000400427.1_Missense_Mutation_p.P167S|UMODL1_ENST00000400424.2_Missense_Mutation_p.P167S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	239					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGGCCACTGCCTGTGGCTGA	0.632																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(499-501)Cct>Tct		uromodulin-like 1							37.0	45.0	42.0					21																	43508515		2099	4239	6338	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43508515C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.715C>T	21.37:g.43508515C>T	ENSP00000386147:p.Pro239Ser					UMODL1_ENST00000408910.2_Missense_Mutation_p.P239S|UMODL1_ENST00000400424.1_Missense_Mutation_p.P167S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S	p.P167S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			5	895	+			239					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.499C>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	0.590	-0.833284	0.02713	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.71103	-0.54;-0.53;-0.54;-0.53	4.11	2.1	0.27182	.	0.338812	0.20703	N	0.087225	T	0.57489	0.2057	L	0.39633	1.23	0.19300	N	0.999975	P;B;B	0.35401	0.499;0.274;0.366	B;B;B	0.37833	0.102;0.259;0.047	T	0.42649	-0.9439	10	0.23302	T	0.38	-3.771	6.9479	0.24528	0.2053:0.6115:0.1832:0.0	.	167;239;239	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	S	167;167;239;239;85;85	ENSP00000383279:P167S;ENSP00000383276:P167S;ENSP00000386126:P239S;ENSP00000386147:P239S	ENSP00000369829:P85S	P	+	1	0	UMODL1	42381584	0.076000	0.21285	0.052000	0.19188	0.008000	0.06430	0.119000	0.15626	0.356000	0.24157	0.563000	0.77884	CCT		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			40	137	0	0	0	1	0	40	137				
CSNK2A3	283106	broad.mit.edu	37	11	11373731	11373731	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11373731C>A	ENST00000528848.2	-	1	1173	c.936G>T	c.(934-936)cgG>cgT	p.R312R	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										TTGCAGTAAGCCGTGACTGGT	0.547																																						ENST00000528848.2																			0											c.(934-936)cgG>cgT		casein kinase 2, alpha 3 polypeptide																																				SO:0001819	synonymous_variant	283106							g.chr11:11373731C>A	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.936G>T	11.37:g.11373731C>A						GALNT18_ENST00000227756.4_Intron	p.R312R	NM_001256686.1	NP_001243615.1					1	1173	-									Silent	SNP	ENST00000528848.2	37	c.936G>T	CCDS59224.1																																																																																				0.547	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		52	296	1	0	1.54886e-18	1	1.72018e-18	52	296				
HCFC1	3054	broad.mit.edu	37	X	153223480	153223480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153223480G>A	ENST00000310441.7	-	11	2990	c.2024C>T	c.(2023-2025)gCt>gTt	p.A675V	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A675V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	675	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACCAGAGCACTGCCTCC	0.642																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2023-2025)gCt>gTt		host cell factor C1 (VP16-accessory protein)							36.0	37.0	37.0					X																	153223480		2086	4193	6279	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153223480G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2024C>T	X.37:g.153223480G>A	ENSP00000309555:p.Ala675Val					HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A675V	p.A675V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			11	2990	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		675			Interaction with SIN3A.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2024C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635243	0.87760	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03242	4.02;4.0;4.0	5.43	5.43	0.79202	.	0.062535	0.64402	D	0.000003	T	0.03390	0.0098	N	0.19112	0.55	0.37493	D	0.916457	B	0.34103	0.437	B	0.30401	0.115	T	0.59220	-0.7495	10	0.23891	T	0.37	.	16.9627	0.86277	0.0:0.0:1.0:0.0	.	675	P51610	HCFC1_HUMAN	V	675;675;606	ENSP00000309555:A675V;ENSP00000359001:A675V;ENSP00000346174:A606V	ENSP00000309555:A675V	A	-	2	0	HCFC1	152876674	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.272000	0.95707	2.268000	0.75426	0.544000	0.68410	GCT		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		45	157	0	0	0	1	0	45	157				
TRRAP	8295	broad.mit.edu	37	7	98592415	98592415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592415C>T	ENST00000359863.4	+	66	10420	c.10211C>T	c.(10210-10212)gCg>gTg	p.A3404V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3404					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCGGCGGGCGCAGGCCACT	0.572																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10210-10212)gCg>gTg		transformation/transcription domain-associated protein							101.0	109.0	106.0					7																	98592415		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592415C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10211C>T	7.37:g.98592415C>T	ENSP00000352925:p.Ala3404Val					TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V	p.A3404V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10420	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3404					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10211C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.727156|5.727156	0.96847|0.96847	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03212|.	4.01;4.02|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71550|0.71550	0.3353|0.3353	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.993;0.997|.	P;B;P|.	0.59221|.	0.854;0.427;0.719|.	T|T	0.68273|0.68273	-0.5452|-0.5452	10|5	0.44086|.	T|.	0.13|.	.|.	19.2202|19.2202	0.93793|0.93793	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3375;3132;3404|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	3404;3375;3392|3133	ENSP00000352925:A3404V;ENSP00000347733:A3375V|.	ENSP00000347733:A3375V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98430351|98430351	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.529000|2.529000	0.85273|0.85273	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		170	898	0	0	0	1	0	170	898				
NR4A3	8013	broad.mit.edu	37	9	102595604	102595604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102595604G>A	ENST00000395097.2	+	5	1851	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	NR4A3_ENST00000330847.1_Silent_p.L385L|NR4A3_ENST00000338488.4_Silent_p.L374L	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	374					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGGTCGTCTGCCTTCCAAAC	0.453			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(1153-1155)ctG>ctA		nuclear receptor subfamily 4, group A, member 3							199.0	172.0	182.0					9																	102595604		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102595604G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1122G>A	9.37:g.102595604G>A						NR4A3_ENST00000338488.4_Silent_p.L374L|NR4A3_ENST00000395097.2_Silent_p.L374L	p.L385L			Q92570	NR4A3_HUMAN			4	1199	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	374					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	37	c.1155G>A	CCDS6743.1																																																																																				0.453	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			65	342	0	0	0	1	0	65	342				
PCNXL4	64430	broad.mit.edu	37	14	60574429	60574429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60574429C>T	ENST00000406854.1	+	2	627	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F	PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000391611.2_Missense_Mutation_p.L25F|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L25F|PCNXL4_ENST00000406949.1_Intron			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	25						integral component of membrane (GO:0016021)											ACAGACTGTTCTTGGAGGCCC	0.438																																						ENST00000406854.1																			0											c.(73-75)Ctt>Ttt		pecanex-like 4 (Drosophila)							86.0	83.0	84.0					14																	60574429		876	1991	2867	SO:0001583	missense	64430							g.chr14:60574429C>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.73C>T	14.37:g.60574429C>T	ENSP00000384801:p.Leu25Phe					PCNXL4_ENST00000404681.2_Missense_Mutation_p.L25F|PCNXL4_ENST00000391611.2_Missense_Mutation_p.L25F|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron	p.L25F							2	627	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	C	19.84	3.901875	0.72754	.	.	ENSG00000126773	ENST00000391611;ENST00000406854;ENST00000404681	T;T	0.36520	1.25;1.25	5.69	5.69	0.88448	.	0.063246	0.08080	U	1.000000	T	0.54565	0.1866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39099	-0.9630	7	0.66056	D	0.02	.	14.0326	0.64624	0.0:0.928:0.0:0.072	.	.	.	.	F	25	ENSP00000384801:L25F;ENSP00000385713:L25F	ENSP00000375469:L25F	L	+	1	0	C14orf135	59644182	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	3.630000	0.54273	2.687000	0.91594	0.655000	0.94253	CTT		0.438	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		46	188	0	0	0	1	0	46	188				
TANC1	85461	broad.mit.edu	37	2	160019849	160019849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160019849G>A	ENST00000263635.6	+	8	975	c.738G>A	c.(736-738)tgG>tgA	p.W246*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	246					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTTTGGAATGGAATAAAGATG	0.488																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(736-738)tgG>tgA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							61.0	63.0	62.0					2																	160019849		1890	4103	5993	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160019849G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.738G>A	2.37:g.160019849G>A	ENSP00000263635:p.Trp246*					TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	p.W246*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			8	975	+			246					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.738G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	39	7.336726	0.98221	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.41	0.74911	0.0663:0.0:0.9337:0.0	.	.	.	.	X	140;246	.	ENSP00000263635:W246X	W	+	3	0	TANC1	159728095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.616000	0.98359	1.577000	0.49804	0.563000	0.77884	TGG		0.488	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			113	314	0	0	0	1	0	113	314				
SMAD4	4089	broad.mit.edu	37	18	48604665	48604665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48604665G>A	ENST00000342988.3	+	12	2025	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	496	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R496H(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGACCTTCGTCGCTTATGC	0.468																																						ENST00000342988.3																			40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	p.0?(36)|p.R496H(2)|p.?(2)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|thyroid(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1486-1488)cGt>cAt		SMAD family member 4							122.0	105.0	111.0					18																	48604665		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604665G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1487G>A	18.37:g.48604665G>A	ENSP00000341551:p.Arg496His					SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H	p.R496H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2025	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	496			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1487G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538817	0.85917	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98862	-5.19;-5.19	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.049689	0.85682	D	0.000000	D	0.99124	0.9698	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	D	0.99813	1.1042	10	0.72032	D	0.01	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	496	Q13485	SMAD4_HUMAN	H	496	ENSP00000341551:R496H;ENSP00000381452:R496H	ENSP00000341551:R496H	R	+	2	0	SMAD4	46858663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.586000	0.98226	2.843000	0.97960	0.655000	0.94253	CGT		0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		92	296	0	0	0	1	0	92	296				
TRAPPC10	7109	broad.mit.edu	37	21	45483547	45483547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45483547C>T	ENST00000291574.4	+	7	1094	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	307					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.R307C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTAGATCTGCGCAGTTACCT	0.587																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.R307C(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(919-921)Cgc>Tgc		trafficking protein particle complex 10							127.0	117.0	121.0					21																	45483547		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45483547C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.919C>T	21.37:g.45483547C>T	ENSP00000291574:p.Arg307Cys						p.R307C	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			7	1094	+			307					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.919C>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559292	0.86335	.	.	ENSG00000160218	ENST00000291574	T	0.49432	0.78	5.74	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79771	-0.1663	10	0.87932	D	0	.	14.9421	0.71003	0.0:0.9309:0.0:0.0691	.	307	P48553	TPC10_HUMAN	C	307	ENSP00000291574:R307C	ENSP00000291574:R307C	R	+	1	0	TRAPPC10	44307975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	1.422000	0.47177	0.655000	0.94253	CGC		0.587	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		83	367	0	0	0	1	0	83	367				
METTL17	64745	broad.mit.edu	37	14	21465009	21465009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21465009C>T	ENST00000339374.6	+	14	1564	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	METTL17_ENST00000382985.4_Silent_p.C468C|SLC39A2_ENST00000298681.4_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.A435V|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	444					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ACTCCGTCTGCGTTTCCTCCA	0.527																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1330-1332)gCg>gTg		methyltransferase like 17							148.0	124.0	132.0					14																	21465009		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21465009C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1331C>T	14.37:g.21465009C>T	ENSP00000343041:p.Ala444Val					RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.A435V|METTL17_ENST00000382985.4_Silent_p.C468C	p.A444V	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			14	1564	+			444					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1331C>T	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228328	0.22542	.	.	ENSG00000165792	ENST00000339374	T	0.30981	1.51	5.1	1.23	0.21249	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.09310	N	1	B;B	0.27700	0.185;0.186	B;B	0.20767	0.014;0.031	T	0.21109	-1.0255	8	0.29301	T	0.29	.	5.2717	0.15628	0.5231:0.3791:0.0978:0.0	.	444;435	Q9H7H0;Q9H7H0-2	MET17_HUMAN;.	V	444	ENSP00000343041:A444V	ENSP00000343041:A444V	A	+	2	0	METTL17	20534849	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.574000	0.23714	0.298000	0.22638	-0.262000	0.10625	GCG		0.527	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		16	444	0	0	0	1	0	16	444				
FAM160B1	57700	broad.mit.edu	37	10	116595962	116595962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116595962C>T	ENST00000369248.4	+	5	814	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	160										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATTGTGTGTGCGAAGCTGAAA	0.338																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(478-480)gCg>gTg		family with sequence similarity 160, member B1							196.0	209.0	205.0					10																	116595962		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116595962C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.479C>T	10.37:g.116595962C>T	ENSP00000358251:p.Ala160Val					FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	p.A160V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			5	814	+			160					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.479C>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560340	0.96527	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.29655	1.56;1.56	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.56769	1.78	0.80722	D	1	P;D	0.76494	0.709;0.999	B;P	0.60789	0.079;0.879	T	0.27739	-1.0065	10	0.13470	T	0.59	-20.6102	18.7711	0.91892	0.0:1.0:0.0:0.0	.	160;160	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	V	160	ENSP00000358251:A160V;ENSP00000358253:A160V	ENSP00000358251:A160V	A	+	2	0	FAM160B1	116585952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.419000	0.82065	0.585000	0.79938	GCG		0.338	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		209	951	0	0	0	1	0	209	951				
EMC1	23065	broad.mit.edu	37	1	19566393	19566393	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19566393G>T	ENST00000477853.1	-	8	915	c.873C>A	c.(871-873)ttC>ttA	p.F291L	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.F269L|EMC1_ENST00000375199.3_Missense_Mutation_p.F291L	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	291						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AGTGCAGGAAGAACTGGGCCC	0.537																																						ENST00000477853.1																			0											c.(871-873)ttC>ttA		ER membrane protein complex subunit 1							62.0	65.0	64.0					1																	19566393		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19566393G>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.873C>A	1.37:g.19566393G>T	ENSP00000420608:p.Phe291Leu					EMC1_ENST00000375208.3_Missense_Mutation_p.F269L|EMC1_ENST00000375199.3_Missense_Mutation_p.F291L|RP1-43E13.2_ENST00000437898.1_RNA	p.F291L	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					8	915	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.873C>A	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.89|16.89	3.248245|3.248245	0.59103|0.59103	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.24151|.	1.9;1.9;1.87|.	5.72|5.72	4.81|4.81	0.61882|0.61882	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68430|0.68430	0.3000|0.3000	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.71674|.	0.487;0.734;0.998;0.997|.	B;B;D;D|.	0.80764|.	0.301;0.301;0.994;0.985|.	T|T	0.67114|0.67114	-0.5752|-0.5752	10|5	0.32370|.	T|.	0.25|.	.|.	13.6583|13.6583	0.62352|0.62352	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	269;291;291;291|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	L|I	291;291;269|26	ENSP00000420608:F291L;ENSP00000364345:F291L;ENSP00000364354:F269L|.	ENSP00000364345:F291L|.	F|L	-|-	3|1	2|0	KIAA0090|KIAA0090	19438980|19438980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.317000|4.317000	0.59184|0.59184	1.413000|1.413000	0.46997|0.46997	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.537	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		13	193	1	0	9.31168e-06	1	9.55451e-06	13	193				
FBXW10	10517	broad.mit.edu	37	17	18647799	18647799	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18647799A>C	ENST00000395665.4	+	1	463	c.242A>C	c.(241-243)cAg>cCg	p.Q81P	FBXW10_ENST00000308799.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	81										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAGACCACACAGGGAAAGGAT	0.388																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(241-243)cAg>cCg		F-box and WD repeat domain containing 10							82.0	87.0	85.0					17																	18647799		2201	4298	6499	SO:0001583	missense	10517							g.chr17:18647799A>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.242A>C	17.37:g.18647799A>C	ENSP00000379025:p.Gln81Pro					FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395665.4_Missense_Mutation_p.Q81P	p.Q81P			Q5XX13	FBW10_HUMAN			1	461	+			81					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.242A>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	a	4.933	0.173414	0.09391	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.31	0.808	0.18719	.	0.228558	0.34986	U	0.003536	T	0.36193	0.0958	L	0.56769	1.78	0.19775	N	0.999955	D;D;D;D	0.71674	0.994;0.998;0.99;0.998	D;D;D;D	0.78314	0.986;0.991;0.969;0.934	T	0.08953	-1.0697	10	0.44086	T	0.13	.	2.7706	0.05333	0.5002:0.0:0.1258:0.374	.	81;81;81;81	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	P	81	ENSP00000379026:Q81P;ENSP00000310382:Q81P;ENSP00000306937:Q81P;ENSP00000379025:Q81P	ENSP00000306937:Q81P	Q	+	2	0	FBXW10	18588524	0.930000	0.31532	0.877000	0.34402	0.921000	0.55340	1.512000	0.35812	0.372000	0.24591	0.333000	0.21579	CAG		0.388	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		59	573	0	0	0	1	0	59	573				
AKAP1	8165	broad.mit.edu	37	17	55183680	55183680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55183680G>A	ENST00000337714.3	+	2	1088	c.855G>A	c.(853-855)gcG>gcA	p.A285A	AKAP1_ENST00000539273.1_Silent_p.A285A|AKAP1_ENST00000314126.3_Silent_p.A285A|AKAP1_ENST00000571629.1_Silent_p.A285A|AKAP1_ENST00000572557.1_Silent_p.A285A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	285					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					ACGATGCGGCGCCAGCACCCC	0.572																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(853-855)gcG>gcA		A kinase (PRKA) anchor protein 1							85.0	87.0	86.0					17																	55183680		2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183680G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.855G>A	17.37:g.55183680G>A						AKAP1_ENST00000572557.1_Silent_p.A285A|AKAP1_ENST00000314126.3_Silent_p.A285A|AKAP1_ENST00000539273.1_Silent_p.A285A|AKAP1_ENST00000571629.1_Silent_p.A285A	p.A285A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	1088	+	Breast(9;5.46e-08)		285					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.855G>A	CCDS11594.1																																																																																				0.572	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			13	640	0	0	0	1	0	13	640				
HSPA13	6782	broad.mit.edu	37	21	15747996	15747996	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15747996A>G	ENST00000285667.3	-	4	792	c.725T>C	c.(724-726)aTg>aCg	p.M242T	HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T|HSPA13_ENST00000478035.1_5'Flank	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	242						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTAGAAACATCCCTCCTTG	0.532																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(724-726)aTg>aCg		heat shock protein 70kDa family, member 13							104.0	99.0	101.0					21																	15747996		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15747996A>G		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.725T>C	21.37:g.15747996A>G	ENSP00000285667:p.Met242Thr					HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T	p.M242T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			4	792	-			242					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.725T>C	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509572	0.85282	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.00922	5.54;5.54	5.86	5.86	0.93980	.	0.102150	0.85682	D	0.000000	T	0.02418	0.0074	N	0.13198	0.31	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71034	-0.4709	10	0.87932	D	0	-27.1554	16.2487	0.82472	1.0:0.0:0.0:0.0	.	242	P48723	HSP13_HUMAN	T	242;34	ENSP00000285667:M242T;ENSP00000441986:M34T	ENSP00000285667:M242T	M	-	2	0	HSPA13	14669867	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.390000	0.79816	2.243000	0.73865	0.523000	0.50628	ATG		0.532	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			91	372	0	0	0	1	0	91	372				
CYP24A1	1591	broad.mit.edu	37	20	52788203	52788203	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52788203C>T	ENST00000216862.3	-	3	849	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CYP24A1_ENST00000395954.3_Silent_p.G10G|CYP24A1_ENST00000395955.3_Silent_p.G152G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	152					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCCAGTCTTCCCCTTCCCTGT	0.463																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(454-456)ggG>ggA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						112.0	115.0	114.0					20																	52788203		2203	4300	6503	SO:0001819	synonymous_variant	0				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52788203C>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.456G>A	20.37:g.52788203C>T						CYP24A1_ENST00000395955.3_Silent_p.G152G|CYP24A1_ENST00000395954.3_Silent_p.G10G	p.G152G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		3	849	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		152					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.456G>A	CCDS33491.1																																																																																				0.463	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			115	569	0	0	0	1	0	115	569				
HRNR	388697	broad.mit.edu	37	1	152192830	152192830	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192830G>A	ENST00000368801.2	-	3	1350	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	425					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGCCGTGGCCTGGAGACT	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1273-1275)ggC>ggT		hornerin							75.0	77.0	76.0					1																	152192830		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192830G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1275C>T	1.37:g.152192830G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G425G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1350	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		425					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1275C>T	CCDS30859.1																																																																																				0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		164	445	0	0	0	1	0	164	445				
TLN1	7094	broad.mit.edu	37	9	35725685	35725685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35725685C>T	ENST00000314888.9	-	2	360	c.7G>A	c.(7-9)Gca>Aca	p.A3T	TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	3					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGAAAGTGCAACCATGGTG	0.532																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(7-9)Gca>Aca		talin 1							214.0	190.0	198.0					9																	35725685		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35725685C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7G>A	9.37:g.35725685C>T	ENSP00000316029:p.Ala3Thr					TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	p.A3T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	360	-	all_epithelial(49;0.167)		3					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.7G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148616	0.57151	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68479	-0.33;-0.33	5.54	5.54	0.83059	.	0.199179	0.53938	D	0.000058	T	0.59004	0.2162	L	0.27053	0.805	0.80722	D	1	B;B	0.34264	0.446;0.038	B;B	0.38327	0.271;0.024	T	0.54153	-0.8336	10	0.20519	T	0.43	-13.2392	19.48	0.95005	0.0:1.0:0.0:0.0	.	3;3	Q5TCU5;Q9Y490	.;TLN1_HUMAN	T	3	ENSP00000316029:A3T;ENSP00000442981:A3T	ENSP00000316029:A3T	A	-	1	0	TLN1	35715685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.025000	0.70864	2.606000	0.88127	0.655000	0.94253	GCA		0.532	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		164	941	0	0	0	1	0	164	941				
NIPA2	81614	broad.mit.edu	37	15	23002959	23002959	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23002959G>A	ENST00000337451.3	-	0	3233				CYFIP1_ENST00000435939.2_Silent_p.K796K|CYFIP1_ENST00000313077.7_Silent_p.K1227K|CYFIP1_ENST00000560848.1_Silent_p.K1227K	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2							early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AGTACCTGAAGTCAGGCGACG	0.567																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3679-3681)aaG>aaA		cytoplasmic FMR1 interacting protein 1							75.0	70.0	72.0					15																	23002959		2203	4300	6503	SO:0001628	intergenic_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:23002959G>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101		15.37:g.23002959G>A						CYFIP1_ENST00000560848.1_Silent_p.K1227K|CYFIP1_ENST00000435939.2_Silent_p.K796K	p.K1227K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	31	3806	+		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)	1227					F8W7Y8|Q96F03|Q9BVS2	Silent	SNP	ENST00000337451.3	37	c.3681G>A	CCDS10010.1																																																																																				0.567	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		85	292	0	0	0	1	0	85	292				
OR6Y1	391112	broad.mit.edu	37	1	158517519	158517519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517519T>C	ENST00000302617.3	-	1	376	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TACATAGCGGTCAAAGGCCAT	0.468																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(376-378)gAc>gGc		olfactory receptor, family 6, subfamily Y, member 1							117.0	100.0	106.0					1																	158517519		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517519T>C	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.377A>G	1.37:g.158517519T>C	ENSP00000304807:p.Asp126Gly						p.D126G	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	376	-	all_hematologic(112;0.0378)		126					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.377A>G	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813517	0.70912	.	.	ENSG00000197532	ENST00000302617	T	0.18174	2.23	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000551	T	0.51109	0.1655	H	0.97962	4.115	0.50171	D	0.999855	D	0.89917	1.0	D	0.87578	0.998	T	0.70502	-0.4854	10	0.87932	D	0	.	13.9452	0.64080	0.0:0.0:0.0:1.0	.	126	Q8NGX8	OR6Y1_HUMAN	G	126	ENSP00000304807:D126G	ENSP00000304807:D126G	D	-	2	0	OR6Y1	156784143	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.709000	0.84645	2.176000	0.68965	0.460000	0.39030	GAC		0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		99	296	0	0	0	1	0	99	296				
FRMD4A	55691	broad.mit.edu	37	10	13699468	13699468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699468G>A	ENST00000357447.2	-	22	2489	c.2121C>T	c.(2119-2121)caC>caT	p.H707H	FRMD4A_ENST00000358621.4_Silent_p.H692H|FRMD4A_ENST00000378503.1_Silent_p.H707H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	707	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGAGCTCCGGTGCCTAAAGT	0.682																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2119-2121)caC>caT		FERM domain containing 4A							22.0	23.0	23.0					10																	13699468		2189	4287	6476	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13699468G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2121C>T	10.37:g.13699468G>A						FRMD4A_ENST00000378503.1_Silent_p.H707H|FRMD4A_ENST00000358621.4_Silent_p.H692H	p.H707H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	2489	-			707			Ser-rich.		A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.2121C>T	CCDS7101.1																																																																																				0.682	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		6	196	0	0	0	1	0	6	196				
NIPAL3	57185	broad.mit.edu	37	1	24782746	24782746	+	Silent	SNP	C	C	T	rs201215627	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24782746C>T	ENST00000374399.4	+	8	1124	c.756C>T	c.(754-756)acC>acT	p.T252T	NIPAL3_ENST00000339255.2_Silent_p.T252T|NIPAL3_ENST00000003912.3_Silent_p.T170T	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	252						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGGTGGCAACCGCCGTCTATC	0.552													c|||	3	0.000599042	0.0	0.0	5008	,	,		21141	0.003		0.0	False		,,,				2504	0.0					ENST00000003912.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(508-510)acC>acT		NIPA-like domain containing 3							448.0	397.0	414.0					1																	24782746		2203	4300	6503	SO:0001819	synonymous_variant	57185					integral to membrane		g.chr1:24782746C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.756C>T	1.37:g.24782746C>T						NIPAL3_ENST00000339255.2_Silent_p.T252T|NIPAL3_ENST00000374399.4_Silent_p.T252T	p.T170T			Q6P499	NPAL3_HUMAN			9	1225	+			252					A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	37	c.510C>T	CCDS30631.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	3.023	-0.201377	0.06219	.	.	ENSG00000001461	ENST00000432012	.	.	.	5.49	-6.75	0.01738	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40289	-0.9571	4	.	.	.	-47.7037	0.1287	0.00072	0.2951:0.2109:0.1684:0.3256	.	.	.	.	C	31	.	.	R	+	1	0	NIPAL3	24655333	0.000000	0.05858	0.090000	0.20809	0.524000	0.34500	-4.210000	0.00273	-1.102000	0.03023	-0.993000	0.02533	CGC		0.552	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		400	1580	0	0	0	1	0	400	1580				
KIF11	3832	broad.mit.edu	37	10	94381182	94381182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94381182C>A	ENST00000260731.3	+	10	1259	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	390					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGATCTTGCTGCAGCCCGT	0.378																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1168-1170)gCt>gAt		kinesin family member 11							138.0	136.0	137.0					10																	94381182		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94381182C>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1169C>A	10.37:g.94381182C>A	ENSP00000260731:p.Ala390Asp						p.A390D	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			10	1259	+			390					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1169C>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147649	0.77888	.	.	ENSG00000138160	ENST00000260731	T	0.73897	-0.79	5.0	5.0	0.66597	.	0.125717	0.52532	D	0.000064	T	0.81288	0.4791	L	0.60455	1.87	0.54753	D	0.999985	D	0.76494	0.999	D	0.68621	0.959	T	0.78250	-0.2277	10	0.25751	T	0.34	.	12.7613	0.57365	0.0:0.9203:0.0:0.0797	.	390	P52732	KIF11_HUMAN	D	390	ENSP00000260731:A390D	ENSP00000260731:A390D	A	+	2	0	KIF11	94371162	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.545000	0.67237	2.320000	0.78422	0.485000	0.47835	GCT		0.378	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		29	383	1	0	8.16721e-17	1	8.9905e-17	29	383				
MLNR	2862	broad.mit.edu	37	13	49796490	49796490	+	Missense_Mutation	SNP	G	G	A	rs200236330		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49796490G>A	ENST00000218721.1	+	2	1216	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	406					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGAGACAAGCGCTAACGTGAA	0.557																																						ENST00000218721.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(1216-1218)Gct>Act		motilin receptor		G	THR/ALA	0,4406		0,0,2203	47.0	49.0	48.0		1216	-6.0	0.0	13		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLNR	NM_001507.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	406/413	49796490	1,13005	2203	4300	6503	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796490G>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1216G>A	13.37:g.49796490G>A	ENSP00000218721:p.Ala406Thr					MLNR_ENST00000398307.1_3'UTR	p.A406T	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1216	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	406						Missense_Mutation	SNP	ENST00000218721.1	37	c.1216G>A	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604985	0.28623	0.0	1.16E-4	ENSG00000102539	ENST00000218721	T	0.69561	-0.41	5.21	-6.04	0.02178	.	1.018280	0.07867	N	0.967326	T	0.39489	0.1080	N	0.24115	0.695	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.22277	-1.0221	10	0.16896	T	0.51	.	1.2048	0.01893	0.3972:0.0967:0.2118:0.2943	.	406	O43193	MTLR_HUMAN	T	406	ENSP00000218721:A406T	ENSP00000218721:A406T	A	+	1	0	MLNR	48694491	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.993000	0.03720	-1.521000	0.01771	-0.145000	0.13849	GCT		0.557	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		22	123	0	0	0	1	0	22	123				
NUAK2	81788	broad.mit.edu	37	1	205272760	205272760	+	Missense_Mutation	SNP	G	G	A	rs561905076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205272760G>A	ENST00000367157.3	-	7	1831	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.R569W(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACAGCCCCGCAGTGGGGGC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16143	0.001		0.0	False		,,,				2504	0.0					ENST00000367157.3																			1	Substitution - Missense(1)	p.R569W(1)	large_intestine(1)	breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(1705-1707)Cgg>Tgg		NUAK family, SNF1-like kinase, 2							26.0	32.0	30.0					1																	205272760		2200	4293	6493	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272760G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1705C>T	1.37:g.205272760G>A	ENSP00000356125:p.Arg569Trp						p.R569W	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1831	-	Breast(84;0.186)		569						Missense_Mutation	SNP	ENST00000367157.3	37	c.1705C>T	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304897	0.60305	.	.	ENSG00000163545	ENST00000367157	D	0.85773	-2.03	4.82	1.6	0.23607	.	0.000000	0.40908	D	0.000994	D	0.90549	0.7038	M	0.72894	2.215	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	D	0.89683	0.3892	10	0.87932	D	0	.	12.9973	0.58654	0.0:0.0:0.5903:0.4097	.	569	Q9H093	NUAK2_HUMAN	W	569	ENSP00000356125:R569W	ENSP00000356125:R569W	R	-	1	2	NUAK2	203539383	1.000000	0.71417	0.908000	0.35775	0.880000	0.50808	2.097000	0.41748	0.032000	0.15435	0.393000	0.25936	CGG		0.667	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		78	330	0	0	0	1	0	78	330				
PRLR	5618	broad.mit.edu	37	5	35068880	35068880	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35068880C>T	ENST00000382002.5	-	8	1212		c.e8+1		PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000509934.1_Intron|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000511486.1_Splice_Site	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor						activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CAGTGAAGTACCTATAGCCCT	0.398																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.e8+1		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						125.0	115.0	119.0					5																	35068880		2203	4300	6503	SO:0001630	splice_region_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35068880C>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.785+1G>A	5.37:g.35068880C>T						PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Splice_Site|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000509934.1_Intron		NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		8	1212	-	all_lung(31;3.83e-05)							B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Splice_Site	SNP	ENST00000382002.5	37		CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667185	0.88251	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRLR	35104637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.173000	0.71937	2.882000	0.98803	0.655000	0.94253	.		0.398	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2		Intron	57	259	0	0	0	1	0	57	259				
TLE2	7089	broad.mit.edu	37	19	3008916	3008916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3008916G>A	ENST00000262953.6	-	14	1463	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	401					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGACCCTCGGAGATGGGGA	0.652																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1201-1203)Cga>Tga		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							47.0	56.0	53.0					19																	3008916		2020	4173	6193	SO:0001587	stop_gained	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3008916G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1201C>T	19.37:g.3008916G>A	ENSP00000262953:p.Arg401*					TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*	p.R401*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1463	-			401					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Nonsense_Mutation	SNP	ENST00000262953.6	37	c.1201C>T	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	g	45	11.444582	0.99562	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	.	.	.	3.99	3.99	0.46301	.	0.116373	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8716	9.2923	0.37793	0.0:0.0:0.7855:0.2145	.	.	.	.	X	401;279;395;68;279;415;309	.	ENSP00000262953:R401X	R	-	1	2	TLE2	2959916	1.000000	0.71417	0.946000	0.38457	0.532000	0.34746	0.437000	0.21543	2.512000	0.84698	0.549000	0.68633	CGA		0.652	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		5	31	0	0	0	1	0	5	31				
BMS1P20	96610	broad.mit.edu	37	22	22662971	22662971	+	RNA	SNP	A	A	G	rs370670957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22662971A>G	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TGTAAGTAAAATTCACTTTGG	0.323																																						ENST00000426066.1																			0																																																			0							g.chr22:22662971A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662971A>G								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.323	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	46	0	0	0	1	0	6	46				
RAPGEF4	11069	broad.mit.edu	37	2	173916387	173916387	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173916387T>C	ENST00000397081.3	+	31	3071	c.2928T>C	c.(2926-2928)gcT>gcC	p.A976A	RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000409036.1_Silent_p.A908A|RAPGEF4_ENST00000264111.6_Silent_p.A975A|RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000540783.1_Silent_p.A823A|RAPGEF4_ENST00000538974.1_Silent_p.A805A	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	976	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGCTCAAGCTAATAAGAACC	0.373																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2923-2925)gcT>gcC		Rap guanine nucleotide exchange factor (GEF) 4							94.0	84.0	87.0					2																	173916387		1887	4113	6000	SO:0001819	synonymous_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173916387T>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2928T>C	2.37:g.173916387T>C						RAPGEF4_ENST00000538974.1_Silent_p.A805A|RAPGEF4_ENST00000397081.3_Silent_p.A976A|RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000540783.1_Silent_p.A823A|RAPGEF4_ENST00000409036.1_Silent_p.A908A	p.A975A			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		31	3112	+			976			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	c.2925T>C	CCDS42775.1																																																																																				0.373	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		49	222	0	0	0	1	0	49	222				
VPS39	23339	broad.mit.edu	37	15	42458803	42458803	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42458803G>A	ENST00000348544.4	-	16	1596	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	VPS39_ENST00000318006.5_Silent_p.L522L			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	533					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGGCCTTTCAGAGGGGAGTTG	0.557																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1564-1566)Ctg>Ttg		vacuolar protein sorting 39 homolog (S. cerevisiae)							92.0	87.0	89.0					15																	42458803		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42458803G>A	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1597C>T	15.37:g.42458803G>A						VPS39_ENST00000348544.4_Silent_p.L533L	p.L522L	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	15	1726	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	533					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.1564C>T	CCDS10083.1																																																																																				0.557	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		50	207	0	0	0	1	0	50	207				
REEP4	80346	broad.mit.edu	37	8	21997708	21997708	+	Silent	SNP	G	G	A	rs146312249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21997708G>A	ENST00000306306.3	-	3	627	c.159C>T	c.(157-159)atC>atT	p.I53I	REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	53					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TGTCTGTAACGATCTCTGCTG	0.597																																						ENST00000306306.3																			0				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7						c.(157-159)atC>atT		receptor accessory protein 4		C		1,4405	2.1+/-5.4	0,1,2202	78.0	68.0	71.0		159	2.3	1.0	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	REEP4	NM_025232.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		53/258	21997708	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80346					integral to membrane		g.chr8:21997708G>A	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.159C>T	8.37:g.21997708G>A						REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I	p.I53I	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN		Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)	3	627	-			53					D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Silent	SNP	ENST00000306306.3	37	c.159C>T	CCDS6024.1																																																																																				0.597	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	NM_025232		10	349	0	0	0	1	0	10	349				
C8orf86	389649	broad.mit.edu	37	8	38369971	38369971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38369971G>A	ENST00000358138.1	-	3	630	c.606C>T	c.(604-606)acC>acT	p.T202T	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	202										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						cccaccccagggtttctaatt	0.527																																						ENST00000358138.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(604-606)acC>acT		chromosome 8 open reading frame 86							49.0	51.0	50.0					8																	38369971		2203	4300	6503	SO:0001819	synonymous_variant	389649							g.chr8:38369971G>A	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.606C>T	8.37:g.38369971G>A						C8orf86_ENST00000437935.2_3'UTR	p.T202T	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN			3	630	-			202					A4QPB7	Silent	SNP	ENST00000358138.1	37	c.606C>T	CCDS6108.1																																																																																				0.527	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	NM_207412		64	268	0	0	0	1	0	64	268				
NBPF1	55672	broad.mit.edu	37	1	16892237	16892237	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16892237A>G	ENST00000430580.2	-	27	3842	c.2955T>C	c.(2953-2955)tgT>tgC	p.C985C		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	985	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGTTGAATAACATCTATCCA	0.473																																						ENST00000430580.2																			0											c.(2953-2955)tgT>tgC		neuroblastoma breakpoint family, member 1							26.0	22.0	23.0					1																	16892237		1485	2604	4089	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16892237A>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2955T>C	1.37:g.16892237A>G							p.C985C	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3842	-			985			NBPF 6.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2955T>C																																																																																					0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		94	5983	0	0	0	1	0	94	5983				
RAB4A	5867	broad.mit.edu	37	1	229433282	229433282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229433282C>T	ENST00000366690.4	+	5	552	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	115					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CGAATGCTAGCGAGCCAGAAC	0.388																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(343-345)gCg>gTg		RAB4A, member RAS oncogene family							128.0	121.0	124.0					1																	229433282		2203	4300	6503	SO:0001583	missense	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229433282C>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.344C>T	1.37:g.229433282C>T	ENSP00000355651:p.Ala115Val					RAB4A_ENST00000473894.1_3'UTR	p.A115V	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN			5	552	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	110					Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	c.344C>T	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295386	0.81025	.	.	ENSG00000168118	ENST00000366690	T	0.77358	-1.09	5.48	4.57	0.56435	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	L	0.57130	1.785	0.80722	D	1	P	0.45176	0.852	B	0.41946	0.371	T	0.78750	-0.2082	10	0.72032	D	0.01	.	14.3666	0.66810	0.0:0.9287:0.0:0.0713	.	110	P20338	RAB4A_HUMAN	V	115	ENSP00000355651:A115V	ENSP00000355651:A115V	A	+	2	0	RAB4A	227499905	1.000000	0.71417	0.938000	0.37757	0.981000	0.71138	7.818000	0.86416	1.294000	0.44707	0.655000	0.94253	GCG		0.388	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		35	625	0	0	0	1	0	35	625				
ARNTL	406	broad.mit.edu	37	11	13378325	13378325	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13378325G>A	ENST00000403290.1	+	6	534		c.e6+1		ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CTCATGGAAGGTACCATGAAC	0.398																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.e6+1		aryl hydrocarbon receptor nuclear translocator-like							141.0	120.0	127.0					11																	13378325		2200	4294	6494	SO:0001630	splice_region_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13378325G>A	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.179+1G>A	11.37:g.13378325G>A						ARNTL_ENST00000403290.1_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site				O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	6	534	+								A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Splice_Site	SNP	ENST00000403290.1	37			.	.	.	.	.	.	.	.	.	.	G	20.6	4.010702	0.75046	.	.	ENSG00000133794	ENST00000527998;ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.237	0.87001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARNTL	13334901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.679000	0.91253	0.655000	0.94253	.		0.398	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	Intron	56	230	0	0	0	1	0	56	230				
ABCC2	1244	broad.mit.edu	37	10	101560322	101560322	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101560322T>C	ENST00000370449.4	+	9	1322		c.e9+2			NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2						cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TATAAGAAGGTAAGCAGAATA	0.408																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.e9+2		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						136.0	120.0	125.0					10																	101560322		2203	4300	6503	SO:0001630	splice_region_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101560322T>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1209+2T>C	10.37:g.101560322T>C								NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	9	1322	+		Colorectal(252;0.234)						B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Splice_Site	SNP	ENST00000370449.4	37		CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671329	0.88348	.	.	ENSG00000023839	ENST00000370449	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.133	0.81458	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC2	101550312	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.021000	0.88750	2.212000	0.71576	0.459000	0.35465	.		0.408	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	Intron	93	413	0	0	0	1	0	93	413				
VPS9D1	9605	broad.mit.edu	37	16	89775730	89775730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89775730G>A	ENST00000389386.3	-	12	1626	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	VPS9D1_ENST00000561976.1_Missense_Mutation_p.A431V|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	501	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GGCCCCCTTGGCCTCAGGGTT	0.672																																						ENST00000561976.1																			0											c.(1291-1293)gCc>gTc		VPS9 domain containing 1							33.0	39.0	37.0					16																	89775730		1959	4140	6099	SO:0001583	missense	9605							g.chr16:89775730G>A	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1502C>T	16.37:g.89775730G>A	ENSP00000374037:p.Ala501Val					VPS9D1_ENST00000389386.3_Missense_Mutation_p.A501V	p.A431V							11	1669	-									Missense_Mutation	SNP	ENST00000389386.3	37	c.1292C>T	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004764	0.07773	.	.	ENSG00000075399	ENST00000389386	T	0.30981	1.51	5.1	3.05	0.35203	Vacuolar sorting protein 9 (1);	0.353012	0.28847	N	0.013948	T	0.20210	0.0486	L	0.33485	1.01	0.22521	N	0.99903	B	0.19706	0.038	B	0.19391	0.025	T	0.16305	-1.0407	10	0.20046	T	0.44	.	8.6373	0.33957	0.0875:0.156:0.7565:0.0	.	501	Q9Y2B5	CP007_HUMAN	V	501	ENSP00000374037:A501V	ENSP00000374037:A501V	A	-	2	0	C16orf7	88303231	0.001000	0.12720	0.696000	0.30242	0.141000	0.21300	0.863000	0.27913	1.243000	0.43853	0.561000	0.74099	GCC		0.672	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		107	294	0	0	0	1	0	107	294				
SENP8	123228	broad.mit.edu	37	15	72432577	72432577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432577C>A	ENST00000542035.2	+	2	946	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	205							cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ATGGAAAGATCTCATTACCAC	0.448																																						ENST00000544411.1																			0				breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						c.(613-615)Ctc>Atc		SUMO/sentrin specific peptidase family member 8							64.0	59.0	61.0					15																	72432577		2199	4297	6496	SO:0001583	missense	123228				proteolysis		cysteine-type peptidase activity|protein binding	g.chr15:72432577C>A	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"""NEDD8-specific protease 1"", ""sentrin/SUMO-specific protease SENP8"", ""deneddylase 1"""	608659	"""protease, cysteine, 2 (NEDD8 specific)"", ""SUMO/sentrin specific protease family member 8"""	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.613C>A	15.37:g.72432577C>A	ENSP00000446057:p.Leu205Ile					SENP8_ENST00000542035.2_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I	p.L205I	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN			3	1100	+			205					Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	37	c.613C>A	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056735	0.36277	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.84	0.62591	.	0.069030	0.64402	D	0.000014	T	0.48786	0.1519	L	0.48877	1.53	0.80722	D	1	B	0.28026	0.198	B	0.41917	0.37	T	0.34428	-0.9829	10	0.20519	T	0.43	-13.4616	13.5248	0.61589	0.0:0.9264:0.0:0.0736	.	205	Q96LD8	SENP8_HUMAN	I	205	ENSP00000446057:L205I;ENSP00000441753:L205I;ENSP00000340505:L205I;ENSP00000439415:L205I	ENSP00000340505:L205I	L	+	1	0	SENP8	70219631	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	3.575000	0.53870	2.730000	0.93505	0.591000	0.81541	CTC		0.448	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		30	217	1	0	3.1745e-13	1	3.424e-13	30	217				
TAF1B	9014	broad.mit.edu	37	2	10051681	10051681	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10051681A>G	ENST00000263663.5	+	11	1363	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	392					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAAAGAACAAAAAAGGTATT	0.249																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1174-1176)aAa>aGa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							29.0	30.0	30.0					2																	10051681		2176	4251	6427	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10051681A>G	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1175A>G	2.37:g.10051681A>G	ENSP00000263663:p.Lys392Arg					TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	p.K392R	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			11	1363	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		392					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.1175A>G	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851969	0.32699	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.15017	2.65;2.46	4.94	3.73	0.42828	.	0.556803	0.20552	N	0.090085	T	0.13884	0.0336	L	0.41824	1.3	0.29256	N	0.871621	B;B	0.18461	0.028;0.011	B;B	0.16289	0.01;0.015	T	0.13872	-1.0493	9	.	.	.	-6.2759	10.5333	0.44990	0.9209:0.0:0.0791:0.0	.	392;392	Q53T94;Q53T94-2	TAF1B_HUMAN;.	R	392;137	ENSP00000263663:K392R;ENSP00000379542:K137R	.	K	+	2	0	TAF1B	9969132	1.000000	0.71417	0.509000	0.27700	0.952000	0.60782	1.432000	0.34936	0.684000	0.31448	0.482000	0.46254	AAA		0.249	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		22	114	0	0	0	1	0	22	114				
ZYG11B	79699	broad.mit.edu	37	1	53262444	53262444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53262444C>T	ENST00000294353.6	+	8	1618	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	ZYG11B_ENST00000545132.1_Silent_p.L491L|ZYG11B_ENST00000443756.2_Silent_p.L491L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	491										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GTACTGAGCTCTTCATTGTCA	0.338																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1471-1473)ctC>ctT		zyg-11 family member B, cell cycle regulator							143.0	132.0	136.0					1																	53262444		2203	4300	6503	SO:0001819	synonymous_variant	79699						protein binding	g.chr1:53262444C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1473C>T	1.37:g.53262444C>T						ZYG11B_ENST00000545132.1_Silent_p.L491L|ZYG11B_ENST00000443756.2_Silent_p.L491L	p.L491L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			8	1618	+			491					Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	37	c.1473C>T	CCDS30717.1																																																																																				0.338	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		64	210	0	0	0	1	0	64	210				
ZNF425	155054	broad.mit.edu	37	7	148801988	148801988	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801988G>A	ENST00000378061.2	-	4	1107	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	325					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTTCTCTCCGCTGTGCAGCC	0.667																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(973-975)agC>agT		zinc finger protein 425							36.0	34.0	35.0					7																	148801988		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801988G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.975C>T	7.37:g.148801988G>A							p.S325S	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1107	-	Melanoma(164;0.15)		325					B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.975C>T	CCDS34773.1																																																																																				0.667	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		42	242	0	0	0	1	0	42	242				
DNAH10	196385	broad.mit.edu	37	12	124416568	124416568	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124416568C>A	ENST00000409039.3	+	75	12880	c.12855C>A	c.(12853-12855)atC>atA	p.I4285I	DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4285					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCTAATATCTGGAGAAGGC	0.478																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12853-12855)atC>atA		dynein, axonemal, heavy chain 10							91.0	95.0	94.0					12																	124416568		1943	4143	6086	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416568C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12855C>A	12.37:g.124416568C>A						DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR	p.I4285I	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	75	12880	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4285					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12855C>A	CCDS9255.2																																																																																				0.478	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			23	362	1	0	6.36457e-07	1	6.58826e-07	23	362				
SLC17A6	57084	broad.mit.edu	37	11	22381043	22381043	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22381043C>A	ENST00000263160.3	+	4	980	c.543C>A	c.(541-543)atC>atA	p.I181I	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	181					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GATGTGTCATCTTTGTCAGAA	0.408																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(541-543)atC>atA		solute carrier family 17 (vesicular glutamate transporter), member 6							153.0	138.0	143.0					11																	22381043		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22381043C>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.543C>A	11.37:g.22381043C>A							p.I181I	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			4	980	+			181					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.543C>A	CCDS7856.1																																																																																				0.408	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		36	215	1	0	2.95478e-19	1	3.29235e-19	36	215				
EPC2	26122	broad.mit.edu	37	2	149528914	149528914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528914G>A	ENST00000258484.6	+	10	1712	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	560					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGTTTCTGCAGCATCTGTAGC	0.373																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1678-1680)Gca>Aca		enhancer of polycomb homolog 2 (Drosophila)							130.0	125.0	126.0					2																	149528914		1881	4100	5981	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528914G>A	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1678G>A	2.37:g.149528914G>A	ENSP00000258484:p.Ala560Thr						p.A560T	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1712	+			560					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1678G>A	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191585	0.38707	.	.	ENSG00000135999	ENST00000258484	T	0.20598	2.06	5.34	5.34	0.76211	.	0.125508	0.52532	D	0.000061	T	0.10766	0.0263	N	0.03608	-0.345	0.80722	D	1	B	0.20780	0.048	B	0.21708	0.036	T	0.21143	-1.0254	10	0.30854	T	0.27	-4.3089	14.1134	0.65137	0.0:0.1499:0.8501:0.0	.	560	Q52LR7	EPC2_HUMAN	T	560	ENSP00000258484:A560T	ENSP00000258484:A560T	A	+	1	0	EPC2	149245384	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.340000	0.52143	2.646000	0.89796	0.563000	0.77884	GCA		0.373	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		108	504	0	0	0	1	0	108	504				
PTPRN	5798	broad.mit.edu	37	2	220167053	220167053	+	Missense_Mutation	SNP	G	G	A	rs201446365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220167053G>A	ENST00000295718.2	-	6	1040	c.800C>T	c.(799-801)cCt>cTt	p.P267L	PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L|PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	267					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCAGGTGAAGGCCCTGGAAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17526	0.001		0.0	False		,,,				2504	0.0					ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(799-801)cCt>cTt		protein tyrosine phosphatase, receptor type, N							23.0	26.0	25.0					2																	220167053		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167053G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.800C>T	2.37:g.220167053G>A	ENSP00000295718:p.Pro267Leu					AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L|PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L	p.P267L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	6	1040	-		Renal(207;0.0474)	267					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.800C>T	CCDS2440.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.91	1.781115	0.31502	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03386	3.95;3.98;3.98	4.85	3.97	0.46021	.	0.435749	0.21121	N	0.079803	T	0.03871	0.0109	N	0.24115	0.695	0.39568	D	0.969238	P;B	0.49090	0.919;0.007	P;B	0.47015	0.534;0.004	T	0.53563	-0.8421	10	0.52906	T	0.07	.	6.2459	0.20818	0.2543:0.0:0.7457:0.0	.	267;267	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	267;267;267;177	ENSP00000386638:P267L;ENSP00000295718:P267L;ENSP00000444244:P177L	ENSP00000295718:P267L	P	-	2	0	PTPRN	219875297	0.998000	0.40836	0.997000	0.53966	0.899000	0.52679	2.115000	0.41921	1.266000	0.44231	0.561000	0.74099	CCT		0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			31	149	0	0	0	1	0	31	149				
PBX4	80714	broad.mit.edu	37	19	19675846	19675846	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19675846T>C	ENST00000251203.9	-	6	1107	c.821A>G	c.(820-822)aAg>aGg	p.K274R		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	274					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TTCTTGAAACTTCCCCATGTT	0.522																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(820-822)aAg>aGg		pre-B-cell leukemia homeobox 4							337.0	342.0	341.0					19																	19675846		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675846T>C	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.821A>G	19.37:g.19675846T>C	ENSP00000251203:p.Lys274Arg						p.K274R	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			6	1107	-			274					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.821A>G	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	t	13.22	2.170696	0.38315	.	.	ENSG00000105717	ENST00000251203	D	0.83591	-1.74	3.85	2.83	0.33086	Homeodomain-related (1);Homeobox (1);	0.063396	0.64402	N	0.000008	D	0.88459	0.6442	M	0.78049	2.395	0.46564	D	0.999109	D	0.63880	0.993	D	0.72625	0.978	D	0.85733	0.1332	10	0.44086	T	0.13	-18.6076	7.4495	0.27229	0.0:0.1075:0.0:0.8925	.	274	Q9BYU1	PBX4_HUMAN	R	274	ENSP00000251203:K274R	ENSP00000251203:K274R	K	-	2	0	PBX4	19536846	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	3.159000	0.50731	0.566000	0.29273	-0.453000	0.05500	AAG		0.522	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			374	1482	0	0	0	1	0	374	1482				
SNAPC3	6619	broad.mit.edu	37	9	15422996	15422996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15422996G>A	ENST00000380821.3	+	1	295	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	40					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		CTAAATACGCGCGCTTTCCAT	0.687																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(118-120)cGc>cAc		small nuclear RNA activating complex, polypeptide 3, 50kDa							23.0	25.0	24.0					9																	15422996		2195	4291	6486	SO:0001583	missense	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15422996G>A	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.119G>A	9.37:g.15422996G>A	ENSP00000370200:p.Arg40His						p.R40H	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	1	295	+			40					D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	c.119G>A	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860655	0.32884	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.50813	0.73	5.36	2.33	0.28932	.	0.410761	0.27500	N	0.019097	T	0.39172	0.1068	L	0.51422	1.61	0.19775	N	0.999953	D;P	0.54047	0.964;0.832	B;B	0.43082	0.407;0.151	T	0.33369	-0.9871	10	0.72032	D	0.01	-15.0524	6.5701	0.22533	0.1793:0.1541:0.6666:0.0	.	40;40	B4DDR9;Q92966	.;SNPC3_HUMAN	H	40	ENSP00000370200:R40H	ENSP00000370185:R40H	R	+	2	0	SNAPC3	15412996	0.239000	0.23836	0.423000	0.26634	0.171000	0.22731	2.301000	0.43628	0.838000	0.34948	-0.304000	0.09214	CGC		0.687	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		14	63	0	0	0	1	0	14	63				
EHMT1	79813	broad.mit.edu	37	9	140711975	140711975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140711975C>T	ENST00000460843.1	+	24	3486	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1153	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTTTGTCTGCGAGTGAGTGA	0.612																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3457-3459)tgC>tgT		euchromatic histone-lysine N-methyltransferase 1							71.0	69.0	70.0					9																	140711975		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140711975C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3459C>T	9.37:g.140711975C>T							p.C1153C	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	24	3486	+	all_cancers(76;0.164)		1153			SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3459C>T	CCDS7050.2																																																																																				0.612	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		42	266	0	0	0	1	0	42	266				
COX10-AS1	100874058	broad.mit.edu	37	17	13927944	13927944	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:13927944G>A	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		GACGCCTGTCGCCCGTTGTAA	0.602																																						ENST00000602743.1																			0																																																			0							g.chr17:13927944G>A			17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13927944G>A														0	224	-									RNA	SNP	ENST00000602743.1	37																																																																																						0.602	COX10-AS1-005	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000467585.1			26	135	0	0	0	1	0	26	135				
KIF13B	23303	broad.mit.edu	37	8	29003895	29003895	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29003895C>A	ENST00000524189.1	-	18	2225	c.2187G>T	c.(2185-2187)aaG>aaT	p.K729N	KIF13B_ENST00000521515.1_Missense_Mutation_p.K729N	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	729					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCAACCTCACCTTCCTGTTGG	0.443																																						ENST00000521515.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(2185-2187)aaG>aaT		kinesin family member 13B							125.0	116.0	119.0					8																	29003895		1894	4108	6002	SO:0001630	splice_region_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29003895C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2187+1G>T	8.37:g.29003895C>A						KIF13B_ENST00000524189.1_Splice_Site_p.K729_splice	p.K729N			Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	18	2249	-		Ovarian(32;0.000536)	729					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.2187G>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044198	0.93685	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.78481	-0.65;-1.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.73962	2.25	0.80722	D	1	D;P	0.76494	0.999;0.93	D;P	0.63877	0.919;0.84	D	0.87201	0.2241	10	0.54805	T	0.06	.	19.6014	0.95563	0.0:1.0:0.0:0.0	.	729;729	Q9NQT8;F8VPJ2	KI13B_HUMAN;.	N	729	ENSP00000427900:K729N;ENSP00000429201:K729N	ENSP00000429201:K729N	K	-	3	2	KIF13B	29059814	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.588000	0.82629	2.854000	0.98071	0.655000	0.94253	AAG		0.443	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		Missense_Mutation	6	321	1	0	0.00116845	1	0.00118049	6	321				
MMP13	4322	broad.mit.edu	37	11	102820881	102820881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102820881G>A	ENST00000260302.3	-	6	903	c.875C>T	c.(874-876)gCc>gTc	p.A292V	MMP13_ENST00000340273.4_Missense_Mutation_p.A292V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	292	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	ACTGGTAATGGCATCAAGGGA	0.443																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(874-876)gCc>gTc		matrix metallopeptidase 13 (collagenase 3)							318.0	289.0	299.0					11																	102820881		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820881G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.875C>T	11.37:g.102820881G>A	ENSP00000260302:p.Ala292Val					MMP13_ENST00000340273.4_Missense_Mutation_p.A292V	p.A292V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	903	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	292			Hemopexin-like 1.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.875C>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511149	0.96386	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.18810	2.19;2.19	5.77	5.77	0.91146	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.73445	-0.3980	10	0.87932	D	0	.	19.5952	0.95535	0.0:0.0:1.0:0.0	.	292	P45452	MMP13_HUMAN	V	292	ENSP00000260302:A292V;ENSP00000339672:A292V	ENSP00000260302:A292V	A	-	2	0	MMP13	102326091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.713000	0.92767	0.650000	0.86243	GCC		0.443	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		21	718	0	0	0	1	0	21	718				
ADAM21	8747	broad.mit.edu	37	14	70926319	70926319	+	Silent	SNP	C	C	T	rs142273524	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70926319C>T	ENST00000603540.1	+	2	2361	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	ADAM21_ENST00000267499.3_Silent_p.V701V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	701					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTTACTGTCGGGCTTCTTA	0.413													c|||	2	0.000399361	0.0015	0.0	5008	,	,		23033	0.0		0.0	False		,,,				2504	0.0					ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(2101-2103)gtC>gtT		ADAM metallopeptidase domain 21		T		6,4400	11.4+/-27.6	0,6,2197	81.0	74.0	77.0		2103	-2.4	0.0	14	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ADAM21	NM_003813.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		701/723	70926319	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70926319C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2103C>T	14.37:g.70926319C>T						ADAM21_ENST00000267499.3_Silent_p.V701V|RP11-486O13.4_ENST00000556646.1_lincRNA	p.V701V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	2361	+			701					O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.2103C>T	CCDS9804.1																																																																																				0.413	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			84	349	0	0	0	1	0	84	349				
MKL1	57591	broad.mit.edu	37	22	40803436	40803436	+	IGR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40803436G>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Missense_Mutation_p.S396I|SGSM3_ENST00000248929.9_Missense_Mutation_p.S463I	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCAGACTATAGCATGGAGAGC	0.642			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1387-1389)aGc>aTc		small G protein signaling modulator 3							30.0	32.0	31.0					22																	40803436		2202	4300	6502	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803436G>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803436G>T						SGSM3_ENST00000454798.2_Missense_Mutation_p.S396I	p.S463I	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			13	1577	+			463					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1388G>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156447	0.78114	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.17054	2.42;2.3	5.47	4.42	0.53409	.	0.366542	0.33075	N	0.005301	T	0.36468	0.0968	M	0.69358	2.11	0.53688	D	0.999976	P;B;P;P	0.48911	0.644;0.415;0.917;0.899	B;B;P;P	0.58873	0.426;0.426;0.847;0.703	T	0.11421	-1.0588	10	0.87932	D	0	.	15.1679	0.72842	0.0:0.2691:0.7309:0.0	.	400;396;491;463	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	I	463;396	ENSP00000248929:S463I;ENSP00000390998:S396I	ENSP00000248929:S463I	S	+	2	0	SGSM3	39133382	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.255000	0.58804	2.582000	0.87167	0.555000	0.69702	AGC		0.642	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		55	231	1	0	7.89702e-26	1	9.07718e-26	55	231				
NTRK2	4915	broad.mit.edu	37	9	87338493	87338493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87338493C>T	ENST00000323115.4	+	6	942	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NTRK2_ENST00000304053.6_Missense_Mutation_p.P197S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	197	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CATAGGTTTGCCATCTGCAAA	0.373										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(589-591)Cca>Tca		neurotrophic tyrosine kinase, receptor, type 2							156.0	134.0	141.0					9																	87338493		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87338493C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.589C>T	9.37:g.87338493C>T	ENSP00000314586:p.Pro197Ser	TSP Lung(25;0.17)				NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S	p.P197S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			7	1072	+			197			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.589C>T	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273442	0.80580	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	D;D;T;T;T;D;D;T;T	0.82081	-1.57;-1.52;-1.32;-1.36;-1.29;-1.57;-1.52;-1.32;-1.24	5.64	5.64	0.86602	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	H	0.98027	4.13	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96360	0.9265	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	41;197;197;197;197;197;243;197	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	S	197;197;197;197;197;197;197;197;41	ENSP00000365387:P197S;ENSP00000365386:P197S;ENSP00000379221:P197S;ENSP00000365381:P197S;ENSP00000306167:P197S;ENSP00000277120:P197S;ENSP00000314586:P197S;ENSP00000352906:P197S;ENSP00000379207:P41S	ENSP00000277120:P197S	P	+	1	0	NTRK2	86528313	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.070000	0.64376	2.807000	0.96579	0.591000	0.81541	CCA		0.373	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			39	349	0	0	0	1	0	39	349				
TRO	7216	broad.mit.edu	37	X	54954201	54954201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54954201A>C	ENST00000173898.7	+	11	1977	c.1865A>C	c.(1864-1866)aAg>aCg	p.K622T	TRO_ENST00000420798.2_Missense_Mutation_p.K153T|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000399736.1_Missense_Mutation_p.K225T	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	622	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAAGTCCTCAAGTTTGCATGC	0.537																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1864-1866)aAg>aCg		trophinin							57.0	54.0	55.0					X																	54954201		2200	4299	6499	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54954201A>C	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1865A>C	X.37:g.54954201A>C	ENSP00000173898:p.Lys622Thr					TRO_ENST00000399736.1_Missense_Mutation_p.K225T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000420798.2_Missense_Mutation_p.K153T	p.K622T	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			11	1977	+			622			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1865A>C	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706036	0.48412	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06849	3.94;3.7;3.7;3.55;3.25;3.59	3.1	1.94	0.25998	.	.	.	.	.	T	0.18383	0.0441	L	0.49513	1.565	0.30932	N	0.726759	D;P;P;D	0.76494	0.999;0.938;0.573;0.998	D;P;B;D	0.75484	0.958;0.521;0.376;0.986	T	0.08432	-1.0722	9	0.87932	D	0	.	5.5264	0.16960	0.8559:0.0:0.1441:0.0	.	225;225;622;622	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	T	622;622;622;225;225;153;225	ENSP00000173898:K622T;ENSP00000318278:K622T;ENSP00000364162:K622T;ENSP00000382641:K225T;ENSP00000405126:K153T;ENSP00000364181:K225T	ENSP00000173898:K622T	K	+	2	0	TRO	54970926	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	1.126000	0.31344	0.443000	0.26582	0.417000	0.27973	AAG		0.537	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		27	136	0	0	0	1	0	27	136				
CNBD2	140894	broad.mit.edu	37	20	34575343	34575343	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34575343C>A	ENST00000373973.3	+	7	916	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	CNBD2_ENST00000538900.1_Missense_Mutation_p.S248Y|CNBD2_ENST00000349339.1_Missense_Mutation_p.S248Y			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	248																	GCATCATGGTCTGATGAGAAG	0.498																																						ENST00000373973.3																			0											c.(742-744)tCt>tAt		cyclic nucleotide binding domain containing 2							99.0	83.0	88.0					20																	34575343		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34575343C>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.743C>A	20.37:g.34575343C>A	ENSP00000363084:p.Ser248Tyr					CNBD2_ENST00000538900.1_Missense_Mutation_p.S248Y|CNBD2_ENST00000349339.1_Missense_Mutation_p.S248Y	p.S248Y							7	916	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.743C>A		.	.	.	.	.	.	.	.	.	.	C	17.48	3.401395	0.62288	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.51574	0.7;0.7;0.7	5.38	3.44	0.39384	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.539012	0.19095	N	0.122860	T	0.62539	0.2436	M	0.69823	2.125	0.26987	N	0.965225	D;D	0.62365	0.984;0.991	P;D	0.66716	0.847;0.946	T	0.54463	-0.8290	10	0.72032	D	0.01	-2.128	8.5024	0.33165	0.1738:0.659:0.1672:0.0	.	248;248	Q96M20;Q96M20-2	CT152_HUMAN;.	Y	248	ENSP00000363084:S248Y;ENSP00000340954:S248Y;ENSP00000442729:S248Y	ENSP00000340954:S248Y	S	+	2	0	C20orf152	34038757	0.279000	0.24239	0.839000	0.33178	0.798000	0.45092	2.052000	0.41316	0.820000	0.34516	0.655000	0.94253	TCT		0.498	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		7	251	1	0	8.12818e-05	1	8.2724e-05	7	251				
PNPLA8	50640	broad.mit.edu	37	7	108128376	108128376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108128376C>A	ENST00000422087.1	-	10	2111	c.1705G>T	c.(1705-1707)Gta>Tta	p.V569L	PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V469L|PNPLA8_ENST00000426128.2_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	569	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTCTATTTACTATGGTACTT	0.328																																						ENST00000422087.1																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1705-1707)Gta>Tta		patatin-like phospholipase domain containing 8							67.0	68.0	68.0					7																	108128376		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108128376C>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1705G>T	7.37:g.108128376C>A	ENSP00000410804:p.Val569Leu					PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V469L	p.V569L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN			10	2111	-			569			Patatin.		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1705G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373240	0.95923	.	.	ENSG00000135241	ENST00000257694;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.6	5.6	0.85130	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.56280	1.765	0.80722	D	1	P	0.52692	0.955	P	0.54060	0.741	T	0.80926	-0.1164	10	0.52906	T	0.07	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	569	Q9NP80	PLPL8_HUMAN	L	569;569;469;569;469	ENSP00000257694:V569L;ENSP00000410804:V569L;ENSP00000387789:V469L;ENSP00000406779:V569L;ENSP00000402274:V469L	ENSP00000257694:V569L	V	-	1	0	PNPLA8	107915612	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.440000	0.80464	2.630000	0.89119	0.591000	0.81541	GTA		0.328	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		56	248	1	0	1.42676e-28	1	1.66098e-28	56	248				
RPP30	10556	broad.mit.edu	37	10	92663014	92663014	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92663014C>A	ENST00000371703.3	+	0	2589				RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000413330.1_Missense_Mutation_p.L322I	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit						RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						caagaacaggctttgaccctt	0.353																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(964-966)Ctt>Att		ribonuclease P/MRP 30kDa subunit							76.0	74.0	74.0					10																	92663014		1832	4081	5913	SO:0001628	intergenic_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92663014C>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733		10.37:g.92663014C>A						RPP30_ENST00000489806.1_3'UTR	p.L322I	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			13	999	+			0					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.964C>A	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	C	7.167	0.586885	0.13749	.	.	ENSG00000148688	ENST00000413330	T	0.48522	0.81	1.78	0.851	0.18989	.	.	.	.	.	T	0.24084	0.0583	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.16289	0.015	T	0.19353	-1.0308	9	0.87932	D	0	.	4.3377	0.11094	0.0:0.7913:0.0:0.2087	.	322	E9PB02	.	I	322	ENSP00000389182:L322I	ENSP00000389182:L322I	L	+	1	0	RPP30	92652994	0.207000	0.23482	0.010000	0.14722	0.137000	0.21094	0.436000	0.21526	0.318000	0.23185	0.563000	0.77884	CTT		0.353	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		23	127	1	0	1.42536e-11	1	1.52187e-11	23	127				
GFM2	84340	broad.mit.edu	37	5	74047308	74047308	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74047308A>C	ENST00000296805.3	-	6	772	c.315T>G	c.(313-315)gaT>gaG	p.D105E	GFM2_ENST00000427854.2_Missense_Mutation_p.D105E|GFM2_ENST00000509430.1_Missense_Mutation_p.D105E|GFM2_ENST00000345239.2_Missense_Mutation_p.D105E	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTGTGTCTCCATCATCAACAT	0.388																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(313-315)gaT>gaG		G elongation factor, mitochondrial 2							179.0	169.0	172.0					5																	74047308		2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74047308A>C	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.315T>G	5.37:g.74047308A>C	ENSP00000296805:p.Asp105Glu					GFM2_ENST00000509430.1_Missense_Mutation_p.D105E|GFM2_ENST00000427854.2_Missense_Mutation_p.D105E|GFM2_ENST00000345239.2_Missense_Mutation_p.D105E	p.D105E	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	6	772	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	105						Missense_Mutation	SNP	ENST00000296805.3	37	c.315T>G	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844763	0.32606	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000506778	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.84	1.43	0.22495	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.140543	0.64402	D	0.000005	T	0.58061	0.2096	L	0.37507	1.11	0.52501	D	0.999956	B;B;B;B	0.30406	0.074;0.278;0.278;0.091	B;B;B;B	0.36504	0.059;0.226;0.226;0.139	T	0.41770	-0.9490	10	0.07030	T	0.85	-19.5448	5.3805	0.16189	0.7089:0.0:0.1654:0.1257	.	105;105;105;105	Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;RRF2M_HUMAN	E	105;105;105;105;105;30	ENSP00000296805:D105E;ENSP00000296804:D105E;ENSP00000427004:D105E;ENSP00000405808:D105E;ENSP00000424877:D30E	ENSP00000296805:D105E	D	-	3	2	GFM2	74083064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.169000	0.31871	0.341000	0.23771	0.528000	0.53228	GAT		0.388	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		13	825	0	0	0	1	0	13	825				
PPARGC1A	10891	broad.mit.edu	37	4	23833186	23833186	+	Silent	SNP	C	C	T	rs369519960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23833186C>T	ENST00000264867.2	-	3	542	c.423G>A	c.(421-423)ccG>ccA	p.P141P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	141					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTACTAGAGACGGCTCTTCTG	0.517																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(421-423)ccG>ccA		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha		C		0,4406		0,0,2203	167.0	145.0	153.0		423	2.8	1.0	4		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPARGC1A	NM_013261.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/799	23833186	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23833186C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.423G>A	4.37:g.23833186C>T						PPARGC1A_ENST00000509702.1_5'UTR	p.P141P	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			3	542	-		Breast(46;0.0503)	141					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.423G>A	CCDS3429.1																																																																																				0.517	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		122	513	0	0	0	1	0	122	513				
ATAD3C	219293	broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(10-12)gaC>gaT		ATPase family, AAA domain containing 3C							31.0	28.0	29.0					1																	1386075		692	1591	2283	SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1386075C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.12C>T	1.37:g.1386075C>T							p.D4D	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	1	1007	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	4					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.12C>T	CCDS44039.1																																																																																				0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		6	103	0	0	0	1	0	6	103				
ZNF833P	401898	broad.mit.edu	37	19	11793402	11793402	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11793402G>T	ENST00000344893.3	+	0	1604					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						ACTTCACCCAGGAGGAGTGGG	0.493																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5																																														0							g.chr19:11793402G>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11793402G>T								NR_028594.1						0	1604	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.493	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		9	573	1	0	0.0581538	1	0.0582741	9	573				
PEX12	5193	broad.mit.edu	37	17	33900720	33900720	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33900720C>A	ENST00000225873.4	-	0	2675				RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12						peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGCCATTGCTTCACTGTTG	0.453																																						ENST00000592381.1																			0																				133.0	117.0	122.0					17																	33900720		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr17:33900720C>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951		17.37:g.33900720C>A						SNORD7_ENST00000384567.1_RNA								0	382	+								B2R6M2	RNA	SNP	ENST00000225873.4	37		CCDS11296.1																																																																																				0.453	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		61	237	1	0	3.95532e-38	1	4.76227e-38	61	237				
LRP1B	53353	broad.mit.edu	37	2	141032124	141032124	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141032124A>C	ENST00000389484.3	-	85	13982	c.13011T>G	c.(13009-13011)atT>atG	p.I4337M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4337	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCATCCCCAATGGTACATG	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13009-13011)atT>atG		low density lipoprotein receptor-related protein 1B							143.0	114.0	124.0					2																	141032124		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032124A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13011T>G	2.37:g.141032124A>C	ENSP00000374135:p.Ile4337Met	TSP Lung(27;0.18)					p.I4337M	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	85	13982	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4337			EGF-like 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13011T>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.269|6.269	0.417832|0.417832	0.11870|0.11870	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90133|.	-2.62|.	5.36|5.36	-2.75|-2.75	0.05914|0.05914	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.189986|.	0.35320|.	U|.	0.003299|.	T|T	0.14960|0.14960	0.0361|0.0361	N|N	0.11427|0.11427	0.14|0.14	0.27396|0.27396	N|N	0.954992|0.954992	P|.	0.40476|.	0.718|.	B|.	0.33690|.	0.168|.	T|T	0.29822|0.29822	-0.9999|-0.9999	10|5	0.42905|.	T|.	0.14|.	.|.	3.9768|3.9768	0.09478|0.09478	0.492:0.0:0.2697:0.2383|0.492:0.0:0.2697:0.2383	.|.	4337|.	Q9NZR2|.	LRP1B_HUMAN|.	M|W	4337;4275|569;69	ENSP00000374135:I4337M|.	ENSP00000374135:I4337M|.	I|L	-|-	3|2	3|0	LRP1B|LRP1B	140748594|140748594	0.927000|0.927000	0.31430|0.31430	0.982000|0.982000	0.44146|0.44146	0.986000|0.986000	0.74619|0.74619	0.135000|0.135000	0.15952|0.15952	-0.221000|-0.221000	0.09973|0.09973	-0.333000|-0.333000	0.08304|0.08304	ATT|TTG		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		25	316	0	0	0	1	0	25	316				
ANPEP	290	broad.mit.edu	37	15	90346982	90346982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90346982C>T	ENST00000300060.6	-	8	1646	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	445	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCATCCACTGCCATCACGCGG	0.612																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1333-1335)Gca>Aca		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						95.0	98.0	97.0					15																	90346982		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90346982C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1333G>A	15.37:g.90346982C>T	ENSP00000300060:p.Ala445Thr						p.A445T	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		8	1646	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		445			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1333G>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939934	0.52972	.	.	ENSG00000166825	ENST00000300060	T	0.02787	4.16	4.58	4.58	0.56647	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.054594	0.64402	D	0.000001	T	0.05914	0.0154	L	0.46885	1.475	0.44061	D	0.996802	P	0.43633	0.813	P	0.48952	0.596	T	0.55328	-0.8158	10	0.16420	T	0.52	.	14.8532	0.70313	0.0:1.0:0.0:0.0	.	445	P15144	AMPN_HUMAN	T	445	ENSP00000300060:A445T	ENSP00000300060:A445T	A	-	1	0	ANPEP	88147986	1.000000	0.71417	0.997000	0.53966	0.130000	0.20726	3.163000	0.50763	2.093000	0.63338	0.305000	0.20034	GCA		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			42	305	0	0	0	1	0	42	305				
MAN2A2	4122	broad.mit.edu	37	15	91461902	91461902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91461902G>A	ENST00000559717.1	+	22	3676	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T|MAN2A2_ENST00000558538.1_3'UTR|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000360468.3_Missense_Mutation_p.A1073T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1073					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGAGACCGCACTCATCTT	0.607																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(3217-3219)Gca>Aca		mannosidase, alpha, class 2A, member 2							49.0	41.0	44.0					15																	91461902		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91461902G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3217G>A	15.37:g.91461902G>A	ENSP00000452948:p.Ala1073Thr					MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T|MAN2A2_ENST00000559717.1_Missense_Mutation_p.A1073T	p.A1073T	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		21	3235	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		1073					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.3217G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528441	0.96446	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83673	-1.75;-1.75;-1.75	5.95	5.95	0.96441	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92293	0.7555	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.995;0.997	D	0.91919	0.5546	10	0.59425	D	0.04	-17.2714	20.458	0.99154	0.0:0.0:1.0:0.0	.	581;701;1073	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	T	1073;581;263	ENSP00000353655:A1073T;ENSP00000388221:A581T;ENSP00000394372:A263T	ENSP00000353655:A1073T	A	+	1	0	MAN2A2	89262906	1.000000	0.71417	0.206000	0.23566	0.062000	0.15995	7.414000	0.80117	2.835000	0.97688	0.650000	0.86243	GCA		0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		24	149	0	0	0	1	0	24	149				
MIXL1	83881	broad.mit.edu	37	1	226413401	226413401	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413401A>G	ENST00000366810.5	+	2	651	c.587A>G	c.(586-588)gAc>gGc	p.D196G	MIXL1_ENST00000557734.1_Intron|MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	196					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGCATCTCTGACTCTAGCTCC	0.512																																					Pancreas(72;1302 1881 20981 22800)	ENST00000366810.5																			0				breast(1)	1						c.(586-588)gAc>gGc		Mix paired-like homeobox							91.0	95.0	94.0					1																	226413401		2203	4300	6503	SO:0001583	missense	83881				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:226413401A>G	AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"""Homeoboxes / PRD class"""	13363	protein-coding gene	gene with protein product		609852	"""Mix1 homeobox (Xenopus laevis)-like 1"", ""Mix1 homeobox-like 1 (Xenopus laevis)"""			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.587A>G	1.37:g.226413401A>G	ENSP00000355775:p.Asp196Gly					MIXL1_ENST00000557734.1_Intron|MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G	p.D196G			Q9H2W2	MIXL1_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	2	651	+	Breast(184;0.158)		196					B7ZLF9	Missense_Mutation	SNP	ENST00000366810.5	37	c.587A>G	CCDS1552.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.341473	0.24339	.	.	ENSG00000185155	ENST00000542034;ENST00000366810	T;T	0.15718	2.4;2.4	5.73	1.64	0.23874	.	0.898506	0.09278	N	0.824101	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41538	-0.9503	10	0.19590	T	0.45	-1.7763	3.934	0.09298	0.6419:0.0:0.1909:0.1672	.	196	Q9H2W2	MIXL1_HUMAN	G	204;196	ENSP00000442439:D204G;ENSP00000355775:D196G	ENSP00000355775:D196G	D	+	2	0	MIXL1	224480024	0.001000	0.12720	0.003000	0.11579	0.956000	0.61745	0.696000	0.25541	0.413000	0.25759	0.533000	0.62120	GAC		0.512	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3			185	479	0	0	0	1	0	185	479				
GJC2	57165	broad.mit.edu	37	1	228345534	228345534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345534G>T	ENST00000366714.2	+	2	250	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	25					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCGTGGGCAAGGTGTGGCTCA	0.647																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(73-75)aaG>aaT		gap junction protein, gamma 2, 47kDa							54.0	34.0	41.0					1																	228345534		2199	4299	6498	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345534G>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.75G>T	1.37:g.228345534G>T	ENSP00000355675:p.Lys25Asn						p.K25N	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	250	+		Prostate(94;0.0405)	25					O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.75G>T	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217468	0.58560	.	.	ENSG00000198835	ENST00000366714	D	0.99388	-5.81	4.23	2.32	0.28847	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	M	0.90870	3.155	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.99755	1.1019	10	0.87932	D	0	.	9.419	0.38539	0.1773:0.0:0.8227:0.0	.	25	Q5T442	CXG2_HUMAN	N	25	ENSP00000355675:K25N	ENSP00000355675:K25N	K	+	3	2	GJC2	226412157	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.502000	0.53332	0.422000	0.26005	0.491000	0.48974	AAG		0.647	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		15	72	1	0	1.62849e-17	1	1.79894e-17	15	72				
KIF18B	146909	broad.mit.edu	37	17	43013726	43013726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013726C>A	ENST00000590129.1	-	1	13	c.14G>T	c.(13-15)gGt>gTt	p.G5V	KIF18B_ENST00000587309.1_5'UTR|KIF18B_ENST00000339151.4_5'UTR|KIF18B_ENST00000438933.2_5'UTR|KIF18B_ENST00000593135.1_5'UTR			Q86Y91	KI18B_HUMAN	kinesin family member 18B	5					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGTGACACCTGGGTGAGA	0.652																																						ENST00000590129.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(13-15)gGt>gTt		kinesin family member 18B							12.0	14.0	13.0					17																	43013726		2140	4233	6373	SO:0001583	missense	146909							g.chr17:43013726C>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000590129.1:c.14G>T	17.37:g.43013726C>A	ENSP00000465501:p.Gly5Val					KIF18B_ENST00000438933.2_5'UTR|KIF18B_ENST00000339151.4_5'UTR|KIF18B_ENST00000593135.1_5'UTR|KIF18B_ENST00000587309.1_5'UTR	p.G5V							1	13	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000590129.1	37	c.14G>T																																																																																					0.652	KIF18B-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000448725.1	NM_001080443		11	36	1	0	1.58986e-06	1	1.64048e-06	11	36				
FBXO25	26260	broad.mit.edu	37	8	418787	418787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:418787G>A	ENST00000276326.5	+	11	1206	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	FBXO25_ENST00000352684.2_Missense_Mutation_p.D287N|FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N|FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	363					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GCACTTCATCGACCTCTTCAA	0.582																																						ENST00000352684.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(859-861)Gac>Aac		F-box protein 25							56.0	52.0	53.0					8																	418787		2203	4300	6503	SO:0001583	missense	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:418787G>A	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.1087G>A	8.37:g.418787G>A	ENSP00000276326:p.Asp363Asn					FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N|FBXO25_ENST00000276326.5_Missense_Mutation_p.D363N|FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N	p.D287N	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	9	1276	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	363					Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	37	c.859G>A	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567295	0.65651	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T	0.18338	2.22;2.25	5.73	5.73	0.89815	.	0.100946	0.64402	D	0.000001	T	0.33265	0.0857	L	0.42686	1.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.01382	-1.1369	10	0.16420	T	0.52	-37.9512	17.3742	0.87387	0.0:0.0:1.0:0.0	.	287;354;363	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	N	354;287;363;326;287	ENSP00000342077:D354N;ENSP00000276326:D363N	ENSP00000276326:D363N	D	+	1	0	FBXO25	408787	1.000000	0.71417	0.979000	0.43373	0.978000	0.69477	4.992000	0.63889	2.702000	0.92279	0.467000	0.42956	GAC		0.582	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		33	185	0	0	0	1	0	33	185				
SCAF11	9169	broad.mit.edu	37	12	46321115	46321115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46321115C>T	ENST00000369367.3	-	11	2602	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.R790Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.R598Q|SCAF11_ENST00000465950.1_Missense_Mutation_p.R475Q	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	790					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCTAGATCTTCGAGTACGAGG	0.433																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1423-1425)cGa>cAa		SR-related CTD-associated factor 11							178.0	179.0	179.0					12																	46321115		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321115C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2369G>A	12.37:g.46321115C>T	ENSP00000358374:p.Arg790Gln					SCAF11_ENST00000369367.3_Missense_Mutation_p.R790Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.R790Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.R598Q	p.R475Q			Q99590	SCAFB_HUMAN			1	2633	-			790					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1424G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926837	0.73327	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.69685	0.95;1.67;0.94;1.67;-0.42	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000032	T	0.79575	0.4469	M	0.62723	1.935	0.33235	D	0.556467	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.84366	0.0541	10	0.62326	D	0.03	-11.8117	14.9211	0.70838	0.1431:0.8569:0.0:0.0	.	598;790	F8VXG7;Q99590	.;SCAFB_HUMAN	Q	475;790;598;790;730	ENSP00000449812:R475Q;ENSP00000358374:R790Q;ENSP00000448864:R598Q;ENSP00000413036:R790Q;ENSP00000446746:R730Q	ENSP00000358374:R790Q	R	-	2	0	SCAF11	44607382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.479000	0.66813	2.775000	0.95449	0.655000	0.94253	CGA		0.433	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		105	464	0	0	0	1	0	105	464				
CTC1	80169	broad.mit.edu	37	17	8135104	8135104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8135104G>A	ENST00000315684.8	-	14	2422	c.2415C>T	c.(2413-2415)gtC>gtT	p.V805V		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	805					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAAACCAGCGGACTGAAGAGC	0.567																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(2413-2415)gtC>gtT		CTS telomere maintenance complex component 1							73.0	79.0	77.0					17																	8135104		1970	4154	6124	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8135104G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2415C>T	17.37:g.8135104G>A							p.V805V	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			14	2422	-			805					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.2415C>T	CCDS42259.1																																																																																				0.567	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		74	371	0	0	0	1	0	74	371				
ITIH5	80760	broad.mit.edu	37	10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	rs112992012	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7618934C>T	ENST00000256861.6	-	10	1538	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	487					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R487H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATAATCGATGCGGATGTCAGA	0.592																																						ENST00000256861.6																			1	Substitution - Missense(1)	p.R487H(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1459-1461)cGc>cAc		inter-alpha-trypsin inhibitor heavy chain family, member 5		C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	71.0	69.0	69.0		1460,1460,818	2.7	0.5	10	dbSNP_132	69	0,8600		0,0,4300	yes	missense,missense,missense	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	487/703,487/943,273/729	7618934	4,13002	2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618934C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1460G>A	10.37:g.7618934C>T	ENSP00000256861:p.Arg487His					ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H|ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H	p.R487H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1538	-			487					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1460G>A		.	.	.	.	.	.	.	.	.	.	C	10.20	1.285262	0.23478	9.08E-4	0.0	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.57	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	.	.	.	0.42656	D	0.993461	B;B;B	0.32604	0.008;0.377;0.224	B;B;B	0.27796	0.027;0.038;0.083	T	0.11743	-1.0575	9	0.62326	D	0.03	-23.5834	10.6681	0.45743	0.0:0.7919:0.0:0.2081	.	487;487;273	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	487;487;273;269;487	ENSP00000256861:R487H;ENSP00000380333:R487H;ENSP00000298441:R273H;ENSP00000387969:R269H;ENSP00000380332:R487H	ENSP00000256861:R487H	R	-	2	0	ITIH5	7658940	0.992000	0.36948	0.466000	0.27168	0.079000	0.17450	2.988000	0.49386	0.304000	0.22809	-0.448000	0.05591	CGC		0.592	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		28	342	0	0	0	1	0	28	342				
PREX2	80243	broad.mit.edu	37	8	68965365	68965365	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68965365A>G	ENST00000288368.4	+	9	1254	c.977A>G	c.(976-978)aAt>aGt	p.N326S	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	326	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTGTTGTTAATGGATGGAAG	0.318																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(976-978)aAt>aGt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							106.0	94.0	98.0					8																	68965365		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68965365A>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.977A>G	8.37:g.68965365A>G	ENSP00000288368:p.Asn326Ser					PREX2_ENST00000529398.1_3'UTR	p.N326S	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			9	1254	+			326			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.977A>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669176	0.88348	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.89552	-2.53	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.96430	0.9318	10	0.72032	D	0.01	.	15.6423	0.77016	1.0:0.0:0.0:0.0	.	326;326;326	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	S	326	ENSP00000288368:N326S	ENSP00000288368:N326S	N	+	2	0	PREX2	69127919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.518000	0.81795	2.100000	0.63781	0.533000	0.62120	AAT		0.318	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		66	267	0	0	0	1	0	66	267				
CACNA1B	774	broad.mit.edu	37	9	140952524	140952524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140952524C>T	ENST00000371372.1	+	28	4275	c.4130C>T	c.(4129-4131)gCc>gTc	p.A1377V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A573V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1377					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCGTGGATGCCACCTATGAG	0.547																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1717-1719)gCc>gTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						166.0	154.0	158.0					9																	140952524		2020	4201	6221	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140952524C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4130C>T	9.37:g.140952524C>T	ENSP00000360423:p.Ala1377Val					CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V	p.A573V			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	29	4287	+	all_cancers(76;0.166)		1377					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1718C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199806	0.79015	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	L	0.46819	1.47	0.80722	D	1	B;P;P	0.41498	0.255;0.752;0.752	B;P;P	0.51742	0.228;0.678;0.678	D	0.95465	0.8546	10	0.23302	T	0.38	.	19.4443	0.94840	0.0:1.0:0.0:0.0	.	1377;1378;1377	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1377;1377;573;1377;1378;1378	ENSP00000360423:A1377V;ENSP00000277551:A1377V;ENSP00000277549:A573V;ENSP00000360414:A1377V;ENSP00000360408:A1378V;ENSP00000360406:A1378V	ENSP00000277549:A573V	A	+	2	0	CACNA1B	140072345	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.708000	0.84633	2.682000	0.91365	0.555000	0.69702	GCC		0.547	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		57	241	0	0	0	1	0	57	241				
ZNF831	128611	broad.mit.edu	37	20	57829178	57829178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829178C>T	ENST00000371030.2	+	5	4414	c.4414C>T	c.(4414-4416)Cct>Tct	p.P1472S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1472							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCTCAAAGGCCTTCTTCCTT	0.498																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(4414-4416)Cct>Tct		zinc finger protein 831							88.0	91.0	90.0					20																	57829178		1987	4179	6166	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829178C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4414C>T	20.37:g.57829178C>T	ENSP00000360069:p.Pro1472Ser						p.P1472S	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			5	4414	+	all_lung(29;0.0085)		1472					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4414C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751699	0.15778	.	.	ENSG00000124203	ENST00000371030	T	0.11385	2.78	5.69	2.71	0.32032	.	0.444750	0.21457	N	0.074226	T	0.10252	0.0251	M	0.61703	1.905	0.09310	N	0.999999	B	0.28605	0.217	B	0.21151	0.033	T	0.21381	-1.0247	10	0.29301	T	0.29	-0.0796	7.2263	0.26018	0.0:0.7333:0.0:0.2667	.	1472	Q5JPB2	ZN831_HUMAN	S	1472	ENSP00000360069:P1472S	ENSP00000360069:P1472S	P	+	1	0	ZNF831	57262573	0.000000	0.05858	0.091000	0.20842	0.040000	0.13550	0.049000	0.14099	0.754000	0.32968	0.650000	0.86243	CCT		0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		83	411	0	0	0	1	0	83	411				
SCNN1G	6340	broad.mit.edu	37	16	23226069	23226069	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23226069C>T	ENST00000300061.2	+	12	1673	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	510					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTACAAAGACCTGAACCAGA	0.493																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1528-1530)gaC>gaT		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						87.0	83.0	84.0					16																	23226069		2197	4300	6497	SO:0001819	synonymous_variant	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226069C>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1530C>T	16.37:g.23226069C>T							p.D510D	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	12	1673	+			510					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	ENST00000300061.2	37	c.1530C>T	CCDS10608.1																																																																																				0.493	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		52	209	0	0	0	1	0	52	209				
BCL9L	283149	broad.mit.edu	37	11	118770898	118770898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118770898G>A	ENST00000334801.3	-	7	4098	c.3134C>T	c.(3133-3135)cCg>cTg	p.P1045L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1045	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCTAGGCGGGAGGGTACC	0.627																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3133-3135)cCg>cTg		B-cell CLL/lymphoma 9-like							27.0	31.0	30.0					11																	118770898		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118770898G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3134C>T	11.37:g.118770898G>A	ENSP00000335320:p.Pro1045Leu					BCL9L_ENST00000526143.1_5'UTR	p.P1045L	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	4098	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1045			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3134C>T	CCDS8403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988417|2.988417	0.53934|0.53934	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085|ENST00000530293	T|.	0.42513|.	0.97|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.000000|.	0.43747|.	D|.	0.000530|.	T|T	0.46347|0.46347	0.1388|0.1388	N|N	0.11560|0.11560	0.145|0.145	0.46586|0.46586	D|D	0.999118|0.999118	D;D|.	0.61080|.	0.989;0.981|.	P;B|.	0.48840|.	0.592;0.388|.	T|T	0.42632|0.42632	-0.9440|-0.9440	10|5	0.87932|.	D|.	0|.	-12.8441|-12.8441	17.1466|17.1466	0.86767|0.86767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1040;1045|.	Q86UU0-2;Q86UU0|.	.;BCL9L_HUMAN|.	L|C	1045;1008;338;1045;1045|65	ENSP00000335320:P1045L|.	ENSP00000335320:P1045L|.	P|R	-|-	2|1	0|0	BCL9L|BCL9L	118276108|118276108	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	5.300000|5.300000	0.65721|0.65721	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.627	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		23	178	0	0	0	1	0	23	178				
TTLL7	79739	broad.mit.edu	37	1	84373275	84373275	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84373275C>T	ENST00000260505.8	-	16	2233	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	619					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGAAAATGGGCGGGTGTCCCC	0.512																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1855-1857)cGc>cAc		tubulin tyrosine ligase-like family, member 7							102.0	89.0	93.0					1																	84373275		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84373275C>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1856G>A	1.37:g.84373275C>T	ENSP00000260505:p.Arg619His					TTLL7_ENST00000477524.1_5'UTR	p.R619H	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	16	2233	-			619					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1856G>A	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012970	0.75161	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.05925	3.37	5.34	5.34	0.76211	.	0.242690	0.40302	N	0.001129	T	0.06462	0.0166	M	0.64997	1.995	0.58432	D	0.999994	D	0.58620	0.983	B	0.41988	0.372	T	0.14282	-1.0478	10	0.87932	D	0	.	18.6485	0.91421	0.0:1.0:0.0:0.0	.	619	Q6ZT98	TTLL7_HUMAN	H	619;396;619	ENSP00000260505:R619H	ENSP00000260505:R619H	R	-	2	0	TTLL7	84145863	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	5.540000	0.67205	2.499000	0.84300	0.460000	0.39030	CGC		0.512	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		30	155	0	0	0	1	0	30	155				
UNC5C	8633	broad.mit.edu	37	4	96104083	96104083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96104083C>T	ENST00000453304.1	-	14	2764	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	806					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGATCTGCCCTTCTCCTTCC	0.522																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2416-2418)Ggg>Agg		unc-5 homolog C (C. elegans)							148.0	124.0	132.0					4																	96104083		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96104083C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2416G>A	4.37:g.96104083C>T	ENSP00000406022:p.Gly806Arg						p.G806R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	14	2764	-		Hepatocellular(203;0.114)	806					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2416G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156487	0.94686	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.50548	0.74	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56547	-0.7961	10	0.25106	T	0.35	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	806	O95185	UNC5C_HUMAN	R	806;765	ENSP00000406022:G806R	ENSP00000328673:G765R	G	-	1	0	UNC5C	96323106	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.792000	0.85828	2.770000	0.95276	0.655000	0.94253	GGG		0.522	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		97	374	0	0	0	1	0	97	374				
ZZEF1	23140	broad.mit.edu	37	17	3968016	3968016	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968016G>T	ENST00000381638.2	-	29	4481	c.4357C>A	c.(4357-4359)Ctc>Atc	p.L1453I		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1453							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTGGCTGGAGATGACTGGTT	0.493																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4357-4359)Ctc>Atc		zinc finger, ZZ-type with EF-hand domain 1							70.0	65.0	67.0					17																	3968016		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3968016G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4357C>A	17.37:g.3968016G>T	ENSP00000371051:p.Leu1453Ile						p.L1453I	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			29	4481	-			1453					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4357C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021966	0.35701	.	.	ENSG00000074755	ENST00000381638	T	0.21361	2.01	5.53	5.53	0.82687	.	0.607547	0.16222	N	0.223984	T	0.24236	0.0587	L	0.47716	1.5	0.43588	D	0.99593	B;P	0.42827	0.4;0.791	B;B	0.38378	0.11;0.272	T	0.03443	-1.1036	10	0.48119	T	0.1	-2.2679	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1453;1453	O43149-2;O43149	.;ZZEF1_HUMAN	I	1453	ENSP00000371051:L1453I	ENSP00000371051:L1453I	L	-	1	0	ZZEF1	3914765	0.998000	0.40836	0.836000	0.33094	0.146000	0.21551	5.445000	0.66594	2.607000	0.88179	0.591000	0.81541	CTC		0.493	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		10	543	1	0	2.17888e-05	1	2.22852e-05	10	543				
POLN	353497	broad.mit.edu	37	4	2130966	2130966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2130966G>A	ENST00000511885.2	-	18	2160	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	POLN_ENST00000382865.1_Missense_Mutation_p.L603F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	603					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGATCGTGAGAATCTTGTCT	0.388								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1807-1809)Ctc>Ttc	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							141.0	127.0	132.0					4																	2130966		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2130966G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1807C>T	4.37:g.2130966G>A	ENSP00000435506:p.Leu603Phe					POLN_ENST00000382865.1_Missense_Mutation_p.L603F	p.L603F			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		18	2160	-			603					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1807C>T	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475118	0.26511	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	D;D	0.96885	-4.16;-4.16	4.54	-0.924	0.10462	DNA-directed DNA polymerase, family A, palm domain (1);	1.011150	0.07936	N	0.978426	D	0.95446	0.8521	L	0.42686	1.345	0.09310	N	1	D;D;D	0.64830	0.975;0.973;0.994	P;P;D	0.63703	0.702;0.789;0.917	D	0.87240	0.2266	10	0.87932	D	0	-0.0173	1.3165	0.02108	0.2091:0.3282:0.3064:0.1563	.	134;294;603	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	F	603;603;294;134	ENSP00000435506:L603F;ENSP00000372316:L603F	ENSP00000253313:L294F	L	-	1	0	POLN	2100764	0.023000	0.18921	0.001000	0.08648	0.019000	0.09904	0.004000	0.13106	0.098000	0.17522	0.555000	0.69702	CTC		0.388	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		38	210	0	0	0	1	0	38	210				
FAM163A	148753	broad.mit.edu	37	1	179782952	179782952	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179782952C>T	ENST00000341785.4	+	5	528	c.132C>T	c.(130-132)gaC>gaT	p.D44D	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	44						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGGTTGCAGACGAGGAGGAGG	0.637																																						ENST00000341785.4																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						c.(130-132)gaC>gaT		family with sequence similarity 163, member A							50.0	46.0	47.0					1																	179782952		2203	4300	6503	SO:0001819	synonymous_variant	148753					integral to membrane		g.chr1:179782952C>T	BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.132C>T	1.37:g.179782952C>T							p.D44D	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN			5	528	+			44					A8K8R7	Silent	SNP	ENST00000341785.4	37	c.132C>T	CCDS1333.1																																																																																				0.637	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		90	266	0	0	0	1	0	90	266				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		9	328	0	0	0	1	0	9	328				
C6orf120	387263	broad.mit.edu	37	6	170102799	170102799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170102799G>A	ENST00000332290.2	+	1	543	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T|WDR27_ENST00000420344.2_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	82					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GTACGTCTCCGCCAGCAGCCT	0.662																																						ENST00000332290.2																			0				endometrium(1)|lung(2)	3						c.(244-246)Gcc>Acc		chromosome 6 open reading frame 120							54.0	48.0	50.0					6																	170102799		2202	4300	6502	SO:0001583	missense	387263					extracellular region		g.chr6:170102799G>A	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.244G>A	6.37:g.170102799G>A	ENSP00000346931:p.Ala82Thr					C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T	p.A82T	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	1	543	+		Breast(66;0.000338)	82					B4DHE9|E1P5C9	Missense_Mutation	SNP	ENST00000332290.2	37	c.244G>A	CCDS34575.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886734	0.33348	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.24	5.24	0.73138	.	0.210963	0.38436	U	0.001699	T	0.06096	0.0158	N	0.11427	0.14	0.27201	N	0.960165	P;P	0.42039	0.769;0.473	B;B	0.24848	0.056;0.039	T	0.12734	-1.0536	9	0.59425	D	0.04	-24.4242	13.1613	0.59547	0.0:0.0:0.8403:0.1597	.	101;82	B4DJ79;Q7Z4R8	.;CF120_HUMAN	T	101;82	.	ENSP00000346931:A82T	A	+	1	0	C6orf120	169844724	1.000000	0.71417	0.841000	0.33234	0.015000	0.08874	7.443000	0.80521	2.591000	0.87537	0.561000	0.74099	GCC		0.662	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		84	277	0	0	0	1	0	84	277				
ALDH3A2	224	broad.mit.edu	37	17	19578929	19578929	+	3'UTR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19578929C>A	ENST00000176643.6	+	0	1948				ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000571163.1_Missense_Mutation_p.F95L|ALDH3A2_ENST00000574597.1_3'UTR|SLC47A2_ENST00000463318.1_5'Flank|ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000581518.1_3'UTR|ALDH3A2_ENST00000579855.1_3'UTR			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2						cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					CTGAATTATTCCTCTTTTAAA	0.328																																						ENST00000571163.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13						c.(283-285)ttC>ttA		aldehyde dehydrogenase 3 family, member A2	NADH(DB00157)						134.0	131.0	132.0					17																	19578929		2203	4300	6503	SO:0001624	3_prime_UTR_variant	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19578929C>A	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.*44C>A	17.37:g.19578929C>A						ALDH3A2_ENST00000581518.1_3'UTR|ALDH3A2_ENST00000176643.6_3'UTR|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR	p.F95L			P51648	AL3A2_HUMAN			3	285	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		0					Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	c.285C>A	CCDS11210.1																																																																																				0.328	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			128	539	1	0	3.73674e-43	1	4.55926e-43	128	539				
WDR11	55717	broad.mit.edu	37	10	122650367	122650367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122650367C>T	ENST00000263461.6	+	19	2729	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAAGTCTGCGTGCTTTAGA	0.433																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(2482-2484)gCg>gTg		WD repeat domain 11							214.0	198.0	204.0					10																	122650367		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122650367C>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2483C>T	10.37:g.122650367C>T	ENSP00000263461:p.Ala828Val					WDR11_ENST00000604509.1_Intron	p.A828V	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			19	2729	+			828					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.2483C>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188943	0.94923	.	.	ENSG00000120008	ENST00000263461	D	0.90444	-2.67	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.297552	0.37669	N	0.001989	D	0.86426	0.5930	L	0.36672	1.1	0.30098	N	0.807698	B;B;B;B	0.26975	0.063;0.063;0.165;0.046	B;B;B;B	0.18871	0.016;0.016;0.023;0.006	T	0.79193	-0.1904	10	0.28530	T	0.3	-3.5114	19.4182	0.94710	0.0:1.0:0.0:0.0	.	828;828;119;357	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	V	828	ENSP00000263461:A828V	ENSP00000263461:A828V	A	+	2	0	WDR11	122640357	0.949000	0.32298	0.010000	0.14722	0.888000	0.51559	7.348000	0.79366	2.575000	0.86900	0.655000	0.94253	GCG		0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			128	506	0	0	0	1	0	128	506				
FOXC1	2296	broad.mit.edu	37	6	1610993	1610993	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1610993T>C	ENST00000380874.2	+	1	313	c.313T>C	c.(313-315)Tac>Cac	p.Y105H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	105					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GAACGGCATCTACCAGTTCAT	0.577																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(313-315)Tac>Cac		forkhead box C1							120.0	129.0	126.0					6																	1610993		2203	4300	6503	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1610993T>C	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.313T>C	6.37:g.1610993T>C	ENSP00000370256:p.Tyr105His						p.Y105H	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	313	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	105					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.313T>C	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.022166	0.75275	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.97279	-4.32	3.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000005	D	0.99061	0.9678	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	12.605	0.56519	0.0:0.0:0.0:1.0	.	105	Q12948	FOXC1_HUMAN	H	105	ENSP00000370256:Y105H	ENSP00000370256:Y105H	Y	+	1	0	FOXC1	1555992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.138000	0.77305	1.501000	0.48654	0.375000	0.23000	TAC		0.577	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			121	578	0	0	0	1	0	121	578				
SPHKAP	80309	broad.mit.edu	37	2	228881439	228881439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881439G>A	ENST00000392056.3	-	7	4177	c.4131C>T	c.(4129-4131)acC>acT	p.T1377T	SPHKAP_ENST00000344657.5_Silent_p.T1377T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1377						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTTACATTCGGTAACAGAGT	0.478																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4129-4131)acC>acT		SPHK1 interactor, AKAP domain containing							75.0	78.0	77.0					2																	228881439		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881439G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4131C>T	2.37:g.228881439G>A						SPHKAP_ENST00000344657.5_Silent_p.T1377T	p.T1377T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4177	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1377					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4131C>T	CCDS46537.1																																																																																				0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		101	501	0	0	0	1	0	101	501				
GABRR3	200959	broad.mit.edu	37	3	97720488	97720488	+	RNA	SNP	C	C	T	rs375712400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97720488C>T	ENST00000472788.1	-	0	879					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AACAGCTCTTCGGTCAATCCA	0.403																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3		C	GLN/ARG	0,3710		0,0,1855	90.0	83.0	85.0		878	0.5	0.9	3		85	2,8198		0,2,4098	no	missense	GABRR3	NM_001105580.2	43	0,2,5953	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging	293/468	97720488	2,11908	1855	4100	5955			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97720488C>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97720488C>T								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	879	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.403	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			45	160	0	0	0	1	0	45	160				
BAHD1	22893	broad.mit.edu	37	15	40751773	40751773	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751773G>T	ENST00000416165.1	+	2	1181	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	BAHD1_ENST00000561234.1_Silent_p.G370G|BAHD1_ENST00000560846.1_Silent_p.G370G	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	370					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGTGTGTTGGGCCTGAGCTCA	0.632																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1108-1110)ggG>ggT		bromo adjacent homology domain containing 1							81.0	75.0	77.0					15																	40751773		2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751773G>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1110G>T	15.37:g.40751773G>T						BAHD1_ENST00000416165.1_Silent_p.G370G|BAHD1_ENST00000560846.1_Silent_p.G370G	p.G370G			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	1369	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	370					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.1110G>T	CCDS10058.1																																																																																				0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		97	408	1	0	2.94851e-48	1	3.63789e-48	97	408				
SERAC1	84947	broad.mit.edu	37	6	158549279	158549279	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158549279G>A	ENST00000367104.3	-	10	1007	c.876C>T	c.(874-876)atC>atT	p.I292I	SERAC1_ENST00000367101.1_Silent_p.I292I|SERAC1_ENST00000367102.2_Silent_p.I292I	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	292					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CATTTGCTTCGATTTTATCAC	0.433																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(874-876)atC>atT		serine active site containing 1							138.0	134.0	135.0					6																	158549279		2203	4300	6503	SO:0001819	synonymous_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158549279G>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.876C>T	6.37:g.158549279G>A						SERAC1_ENST00000367104.3_Silent_p.I292I|SERAC1_ENST00000367101.1_Silent_p.I292I	p.I292I			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	10	1017	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	292					Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	c.876C>T	CCDS5255.1																																																																																				0.433	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		107	468	0	0	0	1	0	107	468				
DENND4B	9909	broad.mit.edu	37	1	153903495	153903495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903495G>A	ENST00000361217.4	-	25	4460	c.4042C>T	c.(4042-4044)Cgg>Tgg	p.R1348W	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1348					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGCAGCCGTACCTGAACA	0.587																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(4042-4044)Cgg>Tgg		DENN/MADD domain containing 4B							31.0	34.0	33.0					1																	153903495		1975	4151	6126	SO:0001583	missense	9909							g.chr1:153903495G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4042C>T	1.37:g.153903495G>A	ENSP00000354597:p.Arg1348Trp					DENND4B_ENST00000474386.1_5'UTR	p.R1348W	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		25	4460	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1348					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.4042C>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666975	0.67814	.	.	ENSG00000198837	ENST00000361217	T	0.08370	3.1	5.14	4.23	0.50019	.	0.120058	0.56097	D	0.000030	T	0.04770	0.0129	L	0.54323	1.7	0.47153	D	0.999338	B	0.11235	0.004	B	0.08055	0.003	T	0.08310	-1.0728	10	0.87932	D	0	-14.5368	12.8832	0.58028	0.0798:0.0:0.9202:0.0	.	1348	O75064	DEN4B_HUMAN	W	1348	ENSP00000354597:R1348W	ENSP00000354597:R1348W	R	-	1	2	DENND4B	152170119	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.021000	0.57196	1.392000	0.46585	0.563000	0.77884	CGG		0.587	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		15	90	0	0	0	1	0	15	90				
PCDH7	5099	broad.mit.edu	37	4	30723931	30723931	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30723931T>C	ENST00000361762.2	+	1	1895	c.887T>C	c.(886-888)gTc>gCc	p.V296A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	296	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCCTACGGGTCCTCATCACC	0.687																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(886-888)gTc>gCc		protocadherin 7							9.0	12.0	11.0					4																	30723931		2184	4272	6456	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723931T>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.887T>C	4.37:g.30723931T>C	ENSP00000355243:p.Val296Ala					PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	p.V296A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1895	+			296			Cadherin 2.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.887T>C	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329591	0.81690	.	.	ENSG00000169851	ENST00000361762;ENST00000543491	T;T	0.72505	-0.66;-0.66	5.08	5.08	0.68730	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89033	0.6600	H	0.97023	3.925	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.74348	0.971;0.983	D	0.92703	0.6176	9	0.87932	D	0	.	14.8453	0.70257	0.0:0.0:0.0:1.0	.	296;296	F5GWJ1;O60245	.;PCDH7_HUMAN	A	296	ENSP00000355243:V296A;ENSP00000441802:V296A	ENSP00000355243:V296A	V	+	2	0	PCDH7	30333029	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.245000	0.72398	1.897000	0.54924	0.454000	0.30748	GTC		0.687	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		17	73	0	0	0	1	0	17	73				
TNXB	7148	broad.mit.edu	37	6	32063627	32063627	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32063627A>G	ENST00000479795.1	-	3	2143	c.2003T>C	c.(2002-2004)cTg>cCg	p.L668P	TNXB_ENST00000375244.3_Missense_Mutation_p.L668P|TNXB_ENST00000375247.2_Missense_Mutation_p.L668P			P22105	TENX_HUMAN	tenascin XB	668	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGTGGCACAGGCACACTCC	0.721																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2002-2004)cTg>cCg		tenascin XB							15.0	17.0	17.0					6																	32063627		2129	4234	6363	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063627A>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2003T>C	6.37:g.32063627A>G	ENSP00000418248:p.Leu668Pro					TNXB_ENST00000375247.2_Missense_Mutation_p.L668P|TNXB_ENST00000479795.1_Missense_Mutation_p.L668P	p.L668P			P22105	TENX_HUMAN			3	2204	-			668			EGF-like 17.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.2003T>C		.	.	.	.	.	.	.	.	.	.	A	10.66	1.413962	0.25465	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.07688	3.88;3.88;3.17	4.25	1.74	0.24563	.	1.326850	0.05510	N	0.560107	T	0.09818	0.0241	M	0.72894	2.215	0.39173	D	0.962636	P	0.52692	0.955	P	0.54312	0.748	T	0.26815	-1.0092	10	0.72032	D	0.01	.	4.641	0.12548	0.6523:0.1657:0.182:0.0	.	668	P22105-3	.	P	668	ENSP00000364393:L668P;ENSP00000364396:L668P;ENSP00000418248:L668P	ENSP00000364393:L668P	L	-	2	0	TNXB	32171605	0.197000	0.23362	0.133000	0.22050	0.015000	0.08874	2.669000	0.46825	0.178000	0.19917	-0.460000	0.05396	CTG		0.721	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		18	103	0	0	0	1	0	18	103				
SNX5	27131	broad.mit.edu	37	20	17934647	17934647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17934647G>T	ENST00000377768.3	-	5	694	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	SNX5_ENST00000377759.4_Missense_Mutation_p.L128M|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TACGCTTCCAGTTCTTGTTTC	0.423																																						ENST00000377768.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(382-384)Ctg>Atg		sorting nexin 5							226.0	216.0	219.0					20																	17934647		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17934647G>T	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.382C>A	20.37:g.17934647G>T	ENSP00000366998:p.Leu128Met					SNX5_ENST00000377759.4_Missense_Mutation_p.L128M|SNX5_ENST00000483485.1_5'UTR	p.L128M	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN			5	694	-			128			PX.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.382C>A	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744613	0.69418	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.39	2.41	0.29592	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.92691	3.335	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82506	-0.0423	10	0.66056	D	0.02	-18.7303	8.8107	0.34965	0.286:0.0:0.714:0.0	.	149;128	B7Z476;Q9Y5X3	.;SNX5_HUMAN	M	128;128;91;93	ENSP00000366998:L128M;ENSP00000366988:L128M;ENSP00000404448:L91M;ENSP00000406731:L93M	ENSP00000366988:L128M	L	-	1	2	SNX5	17882647	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.490000	0.53245	0.360000	0.24265	0.455000	0.32223	CTG		0.423	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			219	941	1	0	3.76961e-87	1	4.83455e-87	219	941				
ALDH4A1	8659	broad.mit.edu	37	1	19212023	19212023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19212023C>A	ENST00000375341.3	-	5	654	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D133Y|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	133					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGCATGTCTGCCGCCTTC	0.662																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(397-399)Gac>Tac		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						33.0	30.0	31.0					1																	19212023		2202	4300	6502	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19212023C>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.397G>T	1.37:g.19212023C>A	ENSP00000364490:p.Asp133Tyr					ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D133Y|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y	p.D133Y	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	654	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	133					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.397G>T	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142755	0.77888	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94986	0.8130	10	0.87932	D	0	-22.533	17.7644	0.88473	0.0:1.0:0.0:0.0	.	133	P30038	AL4A1_HUMAN	Y	133;133;133;73;117;31;73;117	ENSP00000290597:D133Y;ENSP00000364490:D133Y;ENSP00000446071:D133Y;ENSP00000442988:D73Y;ENSP00000393209:D117Y	ENSP00000290597:D133Y	D	-	1	0	ALDH4A1	19084610	1.000000	0.71417	0.098000	0.21074	0.704000	0.40688	7.186000	0.77722	2.551000	0.86045	0.561000	0.74099	GAC		0.662	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			11	56	1	0	0.000673444	1	0.000681208	11	56				
COPS2	9318	broad.mit.edu	37	15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49431799G>A	ENST00000388901.5	-	4	371	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Missense_Mutation_p.R100W|COPS2_ENST00000542928.1_Missense_Mutation_p.R36W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	100					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000388901.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18						c.(298-300)Cgg>Tgg		COP9 signalosome subunit 2							74.0	79.0	77.0					15																	49431799		2196	4288	6484	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49431799G>A	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.298C>T	15.37:g.49431799G>A	ENSP00000373553:p.Arg100Trp					COPS2_ENST00000299259.6_Missense_Mutation_p.R100W|COPS2_ENST00000542928.1_Missense_Mutation_p.R36W	p.R100W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	4	371	-		all_lung(180;0.0428)	100					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.298C>T	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372939	0.82573	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.48	3.59	0.41128	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.54629	0.757;0.757;0.757	T	0.66995	-0.5782	9	0.87932	D	0	-25.2134	12.3137	0.54944	0.139:0.0:0.861:0.0	.	36;101;100	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	W	100;100;36	.	ENSP00000299259:R100W	R	-	1	2	COPS2	47219091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.230000	0.58632	1.317000	0.45149	0.655000	0.94253	CGG		0.313	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		29	381	0	0	0	1	0	29	381				
DSP	1832	broad.mit.edu	37	6	7563014	7563014	+	Splice_Site	SNP	G	G	A	rs111295218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7563014G>A	ENST00000379802.3	+	5	1067		c.e5+1		DSP_ENST00000418664.2_Splice_Site	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCCGACCTGGTACTTGTCTG	0.468																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.e5+1		desmoplakin							107.0	106.0	106.0					6																	7563014		2203	4300	6503	SO:0001630	splice_region_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7563014G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.726+1G>A	6.37:g.7563014G>A						DSP_ENST00000418664.2_Splice_Site		NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	5	1067	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)						B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Splice_Site	SNP	ENST00000379802.3	37		CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644213	0.87859	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSP	7508013	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.283000	0.95860	2.713000	0.92767	0.655000	0.94253	.		0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	Intron	71	312	0	0	0	1	0	71	312				
COL5A3	50509	broad.mit.edu	37	19	10100162	10100162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10100162C>T	ENST00000264828.3	-	25	2114	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	677	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATCGGATCCTGGGAGGCCT	0.552																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2029-2031)Gga>Aga		collagen, type V, alpha 3							45.0	48.0	47.0					19																	10100162		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10100162C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2029G>A	19.37:g.10100162C>T	ENSP00000264828:p.Gly677Arg						p.G677R	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		25	2114	-			677			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2029G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179716	0.78564	.	.	ENSG00000080573	ENST00000264828	D	0.98807	-5.15	4.84	4.84	0.62591	.	0.000000	0.64402	U	0.000001	D	0.99429	0.9798	H	0.97440	4.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98300	1.0518	10	0.87932	D	0	.	13.4752	0.61303	0.0:1.0:0.0:0.0	.	677	P25940	CO5A3_HUMAN	R	677	ENSP00000264828:G677R	ENSP00000264828:G677R	G	-	1	0	COL5A3	9961162	1.000000	0.71417	0.985000	0.45067	0.880000	0.50808	6.071000	0.71229	2.250000	0.74265	0.561000	0.74099	GGA		0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		52	197	0	0	0	1	0	52	197				
KRTAP4-5	85289	broad.mit.edu	37	17	39305864	39305864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305864C>A	ENST00000343246.4	-	1	190	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	52	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagGTGGGCTGGTAGCACA	0.672																																						ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(154-156)caG>caT		keratin associated protein 4-5							23.0	26.0	25.0					17																	39305864		2180	4267	6447	SO:0001583	missense	85289					keratin filament		g.chr17:39305864C>A	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.156G>T	17.37:g.39305864C>A	ENSP00000340546:p.Gln52His						p.Q52H	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	52			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.156G>T	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.649	0.682408	0.14907	.	.	ENSG00000198271	ENST00000343246	T	0.00594	6.33	4.12	2.03	0.26663	.	0.609345	0.11953	U	0.513531	T	0.02047	0.0064	M	0.77406	2.37	0.09310	N	0.999999	D	0.65815	0.995	D	0.68353	0.957	T	0.45145	-0.9281	10	0.52906	T	0.07	.	6.334	0.21287	0.1868:0.7083:0.0:0.1048	.	52	Q9BYR2	KRA45_HUMAN	H	52	ENSP00000340546:Q52H	ENSP00000340546:Q52H	Q	-	3	2	KRTAP4-5	36559390	0.000000	0.05858	0.684000	0.30055	0.120000	0.20174	-0.593000	0.05740	0.987000	0.38709	0.655000	0.94253	CAG		0.672	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			59	264	1	0	1.1362e-29	1	1.32843e-29	59	264				
IGHV3-7	28452	broad.mit.edu	37	14	106518660	106518660	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106518660C>T	ENST00000390598.2	-	0	169									immunoglobulin heavy variable 3-7																		CCAGGCTGGACCAAGCCTCCC	0.572																																						ENST00000390598.2																			0																				121.0	117.0	118.0					14																	106518660		1842	4071	5913			0							g.chr14:106518660C>T	M99649		14q32.33	2012-02-08			ENSG00000211938	ENSG00000211938		"""Immunoglobulins / IGH locus"""	5620	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152271		14.37:g.106518660C>T														0	169	-									RNA	SNP	ENST00000390598.2	37																																																																																						0.572	IGHV3-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325659.1	NG_001019		13	908	0	0	0	1	0	13	908				
TENM4	26011	broad.mit.edu	37	11	78369860	78369860	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369860G>T	ENST00000278550.7	-	34	8015	c.7553C>A	c.(7552-7554)tCt>tAt	p.S2518Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2518					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCCGAGGATAGACTGATGGGG	0.478																																						ENST00000278550.7																			0											c.e34-1		teneurin transmembrane protein 4							68.0	69.0	68.0					11																	78369860		1933	4139	6072	SO:0001630	splice_region_variant	26011							g.chr11:78369860G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7552-1C>A	11.37:g.78369860G>T							p.S2518_splice	NM_001098816.2	NP_001092286.2					34	8015	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Splice_Site	SNP	ENST00000278550.7	37	c.7551_splice	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454953	0.63290	.	.	ENSG00000149256	ENST00000278550	D	0.89939	-2.59	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92273	0.7549	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.90800	0.4693	9	.	.	.	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	2518	Q6N022	TEN4_HUMAN	Y	2518	ENSP00000278550:S2518Y	.	S	-	2	0	ODZ4	78047508	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.527000	0.73803	2.780000	0.95670	0.655000	0.94253	TCT		0.478	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		Missense_Mutation	56	281	1	0	1.12357e-39	1	1.35923e-39	56	281				
AKAP9	10142	broad.mit.edu	37	7	91643633	91643633	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91643633T>C	ENST00000359028.2	+	11	3864	c.3639T>C	c.(3637-3639)taT>taC	p.Y1213Y	AKAP9_ENST00000358100.2_Silent_p.Y1213Y|AKAP9_ENST00000356239.3_Silent_p.Y1201Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1213					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGTTCTTATTTTTTACAGG	0.373			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(3637-3639)taT>taC		A kinase (PRKA) anchor protein 9							87.0	88.0	88.0					7																	91643633		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91643633T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3639T>C	7.37:g.91643633T>C						AKAP9_ENST00000356239.3_Silent_p.Y1201Y|AKAP9_ENST00000358100.2_Silent_p.Y1213Y	p.Y1213Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	3864	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1213					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.3639T>C																																																																																					0.373	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		29	108	0	0	0	1	0	29	108				
TRRAP	8295	broad.mit.edu	37	7	98527811	98527811	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98527811C>T	ENST00000359863.4	+	24	3584	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I	TRRAP_ENST00000355540.3_Silent_p.I1125I|TRRAP_ENST00000446306.3_Silent_p.I1124I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1125					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTATCATCCTGGGCTCCA	0.448																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3373-3375)atC>atT		transformation/transcription domain-associated protein							76.0	76.0	76.0					7																	98527811		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98527811C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3375C>T	7.37:g.98527811C>T						TRRAP_ENST00000355540.3_Silent_p.I1125I|TRRAP_ENST00000446306.3_Silent_p.I1124I	p.I1125I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		24	3584	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1125					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.3375C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147083	0.21288	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.39	4.51	0.55191	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60464	-0.7258	4	.	.	.	.	10.7312	0.46098	0.0:0.8531:0.0:0.1469	.	.	.	.	F	840	.	.	S	+	2	0	TRRAP	98365747	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.593000	0.23999	1.410000	0.46936	0.491000	0.48974	TCC		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	352	0	0	0	1	0	9	352				
PSAP	5660	broad.mit.edu	37	10	73588645	73588645	+	Missense_Mutation	SNP	G	G	A	rs188854022	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588645G>A	ENST00000394936.3	-	5	712	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	PSAP_ENST00000394934.1_Missense_Mutation_p.P189S			P07602	SAP_HUMAN	prosaposin	189					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTGGCTGGGGCTTGCTGCGG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		15955	0.002		0.0	False		,,,				2504	0.0					ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(565-567)Ccc>Tcc		prosaposin							40.0	42.0	41.0					10																	73588645		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73588645G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.565C>T	10.37:g.73588645G>A	ENSP00000378394:p.Pro189Ser					PSAP_ENST00000394934.1_Missense_Mutation_p.P189S	p.P189S			P07602	SAP_HUMAN			5	712	-			189					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.565C>T	CCDS7311.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.48	1.949636	0.34377	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.70631	-0.5;-0.5	4.53	3.59	0.41128	.	0.289616	0.37715	N	0.001962	T	0.54515	0.1863	L	0.28458	0.855	0.33022	D	0.52902	B	0.21688	0.059	B	0.19148	0.024	T	0.58020	-0.7710	10	0.26408	T	0.33	-0.0286	9.2139	0.37335	0.0:0.1371:0.6563:0.2067	.	189	P07602	SAP_HUMAN	S	189;189;189;189;192;114	ENSP00000378394:P189S;ENSP00000378392:P189S	ENSP00000350063:P189S	P	-	1	0	PSAP	73258651	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.516000	0.35856	1.198000	0.43158	0.313000	0.20887	CCC		0.582	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		46	225	0	0	0	1	0	46	225				
KIAA1211L	343990	broad.mit.edu	37	2	99438351	99438351	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99438351C>T	ENST00000397899.2	-	7	2716	c.2385G>A	c.(2383-2385)acG>acA	p.T795T		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	795	Pro-rich.																TTTTCTCCGCCGTCCTGGGCT	0.716																																						ENST00000397899.2																			0											c.(2383-2385)acG>acA		KIAA1211-like							14.0	16.0	15.0					2																	99438351		1863	4103	5966	SO:0001819	synonymous_variant	343990							g.chr2:99438351C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2385G>A	2.37:g.99438351C>T							p.T795T	NM_207362.2	NP_997245.2					7	2716	-									Silent	SNP	ENST00000397899.2	37	c.2385G>A	CCDS42720.1																																																																																				0.716	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		35	106	0	0	0	1	0	35	106				
BCAR1	9564	broad.mit.edu	37	16	75263526	75263526	+	Silent	SNP	G	G	A	rs144964852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75263526G>A	ENST00000162330.5	-	7	2622	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000546196.1_Silent_p.A803A|BCAR1_ENST00000420641.3_Silent_p.A850A|BCAR1_ENST00000418647.3_Silent_p.A878A|BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000393420.6_Silent_p.A850A|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000538440.2_Silent_p.A832A	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	832					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAAGGCAGCGGCCTTGGTGG	0.677																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2407-2409)gcC>gcT		breast cancer anti-estrogen resistance 1		G	,,,,,,,,	0,4394		0,0,2197	38.0	29.0	32.0		2634,2550,2550,2550,2496,2490,2052,1866,2496	-9.8	0.0	16	dbSNP_134	32	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,	878/917,850/889,850/889,850/889,832/871,830/869,684/723,622/661,832/871	75263526	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263526G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2496C>T	16.37:g.75263526G>A						BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000418647.3_Silent_p.A878A|BCAR1_ENST00000393420.6_Silent_p.A850A|BCAR1_ENST00000162330.5_Silent_p.A832A|BCAR1_ENST00000420641.3_Silent_p.A850A|BCAR1_ENST00000538440.2_Silent_p.A832A|BCAR1_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000566982.1_5'UTR	p.A803A			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	4061	-			832					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.2409C>T	CCDS10915.1																																																																																				0.677	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		17	145	0	0	0	1	0	17	145				
DSC2	1824	broad.mit.edu	37	18	28672216	28672216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672216C>A	ENST00000280904.6	-	3	645	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	68					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCAGGATCACTTGAATGA	0.333																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(202-204)Gat>Tat		desmocollin 2							67.0	66.0	66.0					18																	28672216		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28672216C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.202G>T	18.37:g.28672216C>A	ENSP00000280904:p.Asp68Tyr					DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	p.D68Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	645	-			68						Missense_Mutation	SNP	ENST00000280904.6	37	c.202G>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585829	0.66105	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.57595	0.39;0.39	5.21	5.21	0.72293	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.33346	N	0.005008	T	0.71854	0.3389	M	0.81112	2.525	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75238	-0.3388	10	0.87932	D	0	.	11.4042	0.49887	0.0:0.9153:0.0:0.0847	.	68;68	Q02487;Q02487-2	DSC2_HUMAN;.	Y	68	ENSP00000251081:D68Y;ENSP00000280904:D68Y	ENSP00000251081:D68Y	D	-	1	0	DSC2	26926214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.418000	0.52721	2.607000	0.88179	0.455000	0.32223	GAT		0.333	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		47	204	1	0	1.02687e-29	1	1.20094e-29	47	204				
WDR33	55339	broad.mit.edu	37	2	128528546	128528546	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528546C>A	ENST00000322313.4	-	2	168	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	WDR33_ENST00000393006.1_Nonsense_Mutation_p.E4*|WDR33_ENST00000409658.3_Nonsense_Mutation_p.E4*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	4					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAACCAATTTCTGTAGCCATG	0.418																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(10-12)Gaa>Taa		WD repeat domain 33							76.0	77.0	77.0					2																	128528546		2203	4300	6503	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128528546C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.10G>T	2.37:g.128528546C>A	ENSP00000325377:p.Glu4*					WDR33_ENST00000393006.1_Nonsense_Mutation_p.E4*|WDR33_ENST00000409658.3_Nonsense_Mutation_p.E4*	p.E4*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	2	168	-	Colorectal(110;0.1)		4					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.10G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	37	6.164502	0.97338	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	.	.	.	5.54	5.54	0.83059	.	0.153249	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.718	19.4948	0.95067	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000325377:E4X	E	-	1	0	WDR33	128245016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GAA		0.418	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		6	223	1	0	3.59834e-05	1	3.67436e-05	6	223				
IGF2BP1	10642	broad.mit.edu	37	17	47075176	47075176	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47075176G>A	ENST00000290341.3	+	1	403	c.69G>A	c.(67-69)gcG>gcA	p.A23A	IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR|RP11-501C14.5_ENST00000505903.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	23	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGTGTTTGCGGAGCACAAGA	0.602																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(67-69)gcG>gcA		insulin-like growth factor 2 mRNA binding protein 1							111.0	107.0	108.0					17																	47075176		2203	4300	6503	SO:0001819	synonymous_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47075176G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.69G>A	17.37:g.47075176G>A						IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR	p.A23A	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			1	403	+			23			RRM 1.		C9JT33	Silent	SNP	ENST00000290341.3	37	c.69G>A	CCDS11543.1																																																																																				0.602	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		139	484	0	0	0	1	0	139	484				
TCN2	6948	broad.mit.edu	37	22	31008947	31008947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31008947C>A	ENST00000215838.3	+	3	839	c.345C>A	c.(343-345)aaC>aaA	p.N115K	TCN2_ENST00000405742.3_Missense_Mutation_p.N111K|TCN2_ENST00000407817.3_Splice_Site_p.N115K			P20062	TCO2_HUMAN	transcobalamin II	115					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGAGCCAACTGTGAGTTTG	0.597																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(343-345)aaC>aaA		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63.0	57.0	59.0					22																	31008947		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31008947C>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.345C>A	22.37:g.31008947C>A	ENSP00000215838:p.Asn115Lys					TCN2_ENST00000407817.3_Splice_Site_p.N115_splice|TCN2_ENST00000405742.3_Missense_Mutation_p.N111K	p.N115K			P20062	TCO2_HUMAN			3	839	+			115					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.345C>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784339	0.49997	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.36520	2.62;2.62;1.25	5.41	5.41	0.78517	.	0.252999	0.45867	D	0.000331	T	0.56630	0.1998	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.999	D;D;D	0.70935	0.921;0.971;0.971	T	0.50499	-0.8821	10	0.18276	T	0.48	-35.3893	16.1181	0.81324	0.0:1.0:0.0:0.0	.	115;111;115	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	115;111;115	ENSP00000215838:N115K;ENSP00000385914:N111K;ENSP00000384914:N115K	ENSP00000215838:N115K	N	+	3	2	TCN2	29338947	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	2.753000	0.47524	2.541000	0.85698	0.655000	0.94253	AAC		0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		60	252	1	0	3.89483e-19	1	4.33865e-19	60	252				
HIST1H1A	3024	broad.mit.edu	37	6	26017371	26017371	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26017371G>T	ENST00000244573.3	-	1	669	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	197					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CGTCACCCTAGCCTTGGCCGC	0.438																																						ENST00000244573.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(589-591)gCt>gAt		histone cluster 1, H1a							137.0	141.0	140.0					6																	26017371		2203	4300	6503	SO:0001583	missense	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017371G>T	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.590C>A	6.37:g.26017371G>T	ENSP00000244573:p.Ala197Asp						p.A197D	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	669	-			197					Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	c.590C>A	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	9.614	1.131968	0.21041	.	.	ENSG00000124610	ENST00000244573	T	0.15017	2.46	4.31	0.178	0.15058	.	0.421494	0.25194	N	0.032428	T	0.04407	0.0121	L	0.34521	1.04	0.29056	N	0.884229	B	0.32245	0.361	B	0.32289	0.143	T	0.29731	-1.0002	10	0.52906	T	0.07	-0.0034	9.339	0.38067	0.3167:0.0:0.6833:0.0	.	197	Q02539	H11_HUMAN	D	197	ENSP00000244573:A197D	ENSP00000244573:A197D	A	-	2	0	HIST1H1A	26125350	0.321000	0.24625	0.001000	0.08648	0.193000	0.23685	1.411000	0.34702	-0.110000	0.12022	-0.320000	0.08662	GCT		0.438	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		174	869	1	0	2.98797e-67	1	3.78391e-67	174	869				
CLTB	1212	broad.mit.edu	37	5	175843361	175843361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175843361C>T	ENST00000310418.4	-	1	209	c.4G>A	c.(4-6)Gct>Act	p.A2T	CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	2					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAGTCATCAGCCATTTTCCCC	0.746																																						ENST00000310418.4																			0				lung(1)	1						c.(4-6)Gct>Act		clathrin, light chain B							14.0	19.0	17.0					5																	175843361		2076	4132	6208	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175843361C>T	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.4G>A	5.37:g.175843361C>T	ENSP00000309415:p.Ala2Thr					CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	p.A2T	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	1	209	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	2					Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.4G>A	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888267	0.52014	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000502877	.	.	.	4.1	2.27	0.28462	.	0.079352	0.48767	D	0.000176	T	0.49847	0.1581	L	0.51422	1.61	0.38125	D	0.93797	B;B	0.23442	0.069;0.085	B;B	0.28011	0.051;0.085	T	0.51325	-0.8720	9	0.87932	D	0	.	8.5743	0.33590	0.3101:0.54:0.15:0.0	.	2;2	P09497-2;P09497	.;CLCB_HUMAN	T	2	.	ENSP00000309415:A2T	A	-	1	0	CLTB	175775967	1.000000	0.71417	0.863000	0.33907	0.426000	0.31534	2.189000	0.42621	0.363000	0.24346	0.462000	0.41574	GCT		0.746	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			59	199	0	0	0	1	0	59	199				
SYNE2	23224	broad.mit.edu	37	14	64520359	64520359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64520359G>T	ENST00000344113.4	+	48	9940	c.9728G>T	c.(9727-9729)aGc>aTc	p.S3243I	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3276I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3243I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3243					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTAACACAAGCATTGATTTG	0.453																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9727-9729)aGc>aTc		spectrin repeat containing, nuclear envelope 2							69.0	64.0	66.0					14																	64520359		1917	4133	6050	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64520359G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9728G>T	14.37:g.64520359G>T	ENSP00000341781:p.Ser3243Ile					SYNE2_ENST00000344113.4_Missense_Mutation_p.S3243I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3276I	p.S3243I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9958	+			3243					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9728G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004126	0.35320	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34667	1.35;1.35;1.35	5.67	3.84	0.44239	.	0.179555	0.40818	N	0.001004	T	0.36552	0.0971	L	0.27053	0.805	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.61201	0.77;0.885	T	0.12656	-1.0539	10	0.34782	T	0.22	.	5.7365	0.18069	0.306:0.0:0.694:0.0	.	3243;3243	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	3243;3243;3276;3276	ENSP00000350719:S3243I;ENSP00000341781:S3243I;ENSP00000452570:S3276I	ENSP00000261678:S3276I	S	+	2	0	SYNE2	63590112	1.000000	0.71417	0.165000	0.22776	0.703000	0.40648	1.600000	0.36762	1.403000	0.46800	0.563000	0.77884	AGC		0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		53	290	1	0	9.55421e-19	1	1.06232e-18	53	290				
CHRNA2	1135	broad.mit.edu	37	8	27320801	27320801	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27320801C>T	ENST00000520933.2	-	5	1312	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	CHRNA2_ENST00000407991.1_Missense_Mutation_p.V387M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	387					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CAGAGCTCCACGGGTGGTGGG	0.682																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1159-1161)Gtg>Atg		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						49.0	48.0	48.0					8																	27320801		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27320801C>T	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1159G>A	8.37:g.27320801C>T	ENSP00000429616:p.Val387Met					CHRNA2_ENST00000520933.2_Missense_Mutation_p.V387M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M	p.V387M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	6	1767	-		Ovarian(32;2.61e-05)	387					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.1159G>A	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516690	0.27123	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	D;D;D	0.85339	-1.97;-1.97;-1.97	5.03	-4.23	0.03789	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.830630	0.02479	N	0.088260	T	0.70237	0.3201	N	0.14661	0.345	0.09310	N	1	B;B	0.21309	0.054;0.006	B;B	0.23419	0.046;0.017	T	0.55774	-0.8088	10	0.39692	T	0.17	.	2.1659	0.03837	0.2773:0.3281:0.2811:0.1135	.	372;387	B4DK19;Q15822	.;ACHA2_HUMAN	M	387;387;372	ENSP00000385026:V387M;ENSP00000429616:V387M;ENSP00000240132:V372M	ENSP00000240132:V372M	V	-	1	0	CHRNA2	27376718	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	-2.291000	0.01147	-1.026000	0.03330	-0.363000	0.07495	GTG		0.682	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			64	255	0	0	0	1	0	64	255				
GNAI3	2773	broad.mit.edu	37	1	110116530	110116530	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110116530G>A	ENST00000369851.4	+	3	284	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	58					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCATTCATGAGGATGGCTATT	0.348																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(172-174)gaG>gaA		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3							98.0	95.0	96.0					1																	110116530		2203	4300	6503	SO:0001819	synonymous_variant	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110116530G>A	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.174G>A	1.37:g.110116530G>A							p.E58E	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	3	284	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	58					P17539|Q5TZX1	Silent	SNP	ENST00000369851.4	37	c.174G>A	CCDS802.1																																																																																				0.348	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		49	203	0	0	0	1	0	49	203				
SCYL3	57147	broad.mit.edu	37	1	169847944	169847944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169847944C>T	ENST00000367770.1	-	2	229	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SCYL3_ENST00000367771.6_Missense_Mutation_p.R61H|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.R61H			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGGTGACGAAGTGTCTT	0.408																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(181-183)cGt>cAt		SCY1-like 3 (S. cerevisiae)							104.0	104.0	104.0					1																	169847944		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169847944C>T	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.182G>A	1.37:g.169847944C>T	ENSP00000356744:p.Arg61His					SCYL3_ENST00000367770.1_Missense_Mutation_p.R61H|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Missense_Mutation_p.R61H	p.R61H	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			3	379	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		61			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.182G>A	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170462	0.94768	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90729	0.4641	9	.	.	.	-15.4784	19.0922	0.93231	0.0:1.0:0.0:0.0	.	61;61	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	H	61	ENSP00000356746:R61H;ENSP00000356745:R61H;ENSP00000356744:R61H;ENSP00000407993:R61H	.	R	-	2	0	SCYL3	168114568	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.338000	0.79269	2.668000	0.90789	0.563000	0.77884	CGT		0.408	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		42	581	0	0	0	1	0	42	581				
SEC23IP	11196	broad.mit.edu	37	10	121692654	121692654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692654G>A	ENST00000369075.3	+	17	2968	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	966	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATACCTTTTCGCTCTTCAGAG	0.388																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(2896-2898)Gct>Act		SEC23 interacting protein							126.0	123.0	124.0					10																	121692654		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121692654G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2896G>A	10.37:g.121692654G>A	ENSP00000358071:p.Ala966Thr					SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T	p.A966T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	17	2968	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	966			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2896G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927052	0.92389	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.41758	0.99;1.08	5.28	5.28	0.74379	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.67707	-0.5601	10	0.52906	T	0.07	-21.8137	19.2611	0.93968	0.0:0.0:1.0:0.0	.	755;966	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	T	966;755	ENSP00000358071:A966T;ENSP00000438773:A755T	ENSP00000358071:A966T	A	+	1	0	SEC23IP	121682644	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	9.420000	0.97426	2.625000	0.88918	0.655000	0.94253	GCT		0.388	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			71	338	0	0	0	1	0	71	338				
GTSE1	51512	broad.mit.edu	37	22	46712143	46712143	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46712143G>T	ENST00000454366.1	+	7	1478	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	403					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCCAACCCCAGACTCCGGAAG	0.597																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1264-1266)caG>caT		G-2 and S-phase expressed 1							33.0	40.0	38.0					22																	46712143		2201	4299	6500	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46712143G>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1266G>T	22.37:g.46712143G>T	ENSP00000415430:p.Gln422His						p.Q422H	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	7	1478	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	403					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1266G>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872121	0.17322	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07688	3.17	4.61	3.58	0.41010	.	1.240630	0.05179	N	0.501016	T	0.10252	0.0251	L	0.34521	1.04	0.32355	N	0.558	B;B	0.28208	0.056;0.203	B;B	0.26864	0.029;0.074	T	0.21655	-1.0239	10	0.42905	T	0.14	-0.368	13.7669	0.63002	0.0:0.1554:0.8446:0.0	.	403;382	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	H	422;382	ENSP00000415430:Q422H	ENSP00000354634:Q382H	Q	+	3	2	GTSE1	45090807	0.396000	0.25262	0.114000	0.21550	0.331000	0.28603	1.576000	0.36504	1.281000	0.44480	-0.181000	0.13052	CAG		0.597	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		73	419	1	0	4.38816e-42	1	5.33856e-42	73	419				
NNT	23530	broad.mit.edu	37	5	43702773	43702773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43702773G>T	ENST00000264663.5	+	21	3267	c.3046G>T	c.(3046-3048)Gct>Tct	p.A1016S	NNT_ENST00000344920.4_Missense_Mutation_p.A1016S|NNT_ENST00000512996.2_Missense_Mutation_p.A885S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1016					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TAATTCAGCAGCTCAAGAAGA	0.343																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3046-3048)Gct>Tct		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						82.0	78.0	79.0					5																	43702773		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43702773G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3046G>T	5.37:g.43702773G>T	ENSP00000264663:p.Ala1016Ser					NNT_ENST00000344920.4_Missense_Mutation_p.A1016S|NNT_ENST00000512996.2_Missense_Mutation_p.A885S	p.A1016S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			21	3267	+	Lung NSC(6;2.58e-06)		1016					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.3046G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922149	0.92319	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95171	-3.63;-3.63;-3.63	5.95	5.95	0.96441	.	0.153952	0.56097	D	0.000025	D	0.97645	0.9228	M	0.90705	3.14	0.80722	D	1	B	0.32350	0.366	P	0.51229	0.663	D	0.96975	0.9711	10	0.72032	D	0.01	-17.2498	20.0036	0.97427	0.0:0.0:1.0:0.0	.	1016	Q13423	NNTM_HUMAN	S	531;1016;1016;885	ENSP00000264663:A1016S;ENSP00000343873:A1016S;ENSP00000426343:A885S	ENSP00000264663:A1016S	A	+	1	0	NNT	43738530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.824000	0.97209	0.655000	0.94253	GCT		0.343	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		35	203	1	0	2.19358e-23	1	2.49351e-23	35	203				
GSG2	83903	broad.mit.edu	37	17	3628546	3628546	+	Silent	SNP	C	C	A	rs143089901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628546C>A	ENST00000325418.4	+	1	1336	c.1317C>A	c.(1315-1317)tcC>tcA	p.S439S	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	439					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGCACTCCTCCTCTATGTATT	0.463																																						ENST00000325418.4																			0											c.(1315-1317)tcC>tcA		germ cell associated 2 (haspin)							113.0	109.0	111.0					17																	3628546		2203	4300	6503	SO:0001819	synonymous_variant	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628546C>A	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1317C>A	17.37:g.3628546C>A						ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.S439S	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1336	+			439					Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	c.1317C>A	CCDS11036.1																																																																																				0.463	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		52	507	1	0	1.86277e-20	1	2.08787e-20	52	507				
FMN2	56776	broad.mit.edu	37	1	240370368	240370368	+	Silent	SNP	C	C	T	rs140392779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240370368C>T	ENST00000319653.9	+	5	2486	c.2256C>T	c.(2254-2256)ggC>ggT	p.G752G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	752					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G895G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAAGAGGGCGGGGTGCTGA	0.547																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.G895G(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2254-2256)ggC>ggT		formin 2		T		0,4406		0,0,2203	44.0	42.0	43.0		2256	-7.8	0.0	1	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FMN2	NM_020066.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		752/1723	240370368	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370368C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2256C>T	1.37:g.240370368C>T							p.G752G	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2486	+	Ovarian(103;0.127)	all_cancers(173;0.013)	752					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2256C>T	CCDS31069.2																																																																																				0.547	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		35	190	0	0	0	1	0	35	190				
GALNT6	11226	broad.mit.edu	37	12	51752996	51752996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51752996G>A	ENST00000543196.2	-	7	1493	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	430					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGCCAGGCGCACTTGATTG	0.542																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1288-1290)Cgc>Tgc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							168.0	174.0	172.0					12																	51752996		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51752996G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1288C>T	12.37:g.51752996G>A	ENSP00000444171:p.Arg430Cys					GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C	p.R430C			Q8NCL4	GALT6_HUMAN			7	1493	-			430					Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1288C>T	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814279	0.90790	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.71103	-0.54;-0.54	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94155	0.7409	10	0.87932	D	0	.	16.6531	0.85222	0.0:0.0:1.0:0.0	.	430	Q8NCL4	GALT6_HUMAN	C	430;430;411	ENSP00000444171:R430C;ENSP00000348668:R430C	ENSP00000348668:R430C	R	-	1	0	GALNT6	50039263	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.638000	0.83328	2.661000	0.90470	0.561000	0.74099	CGC		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		154	1272	0	0	0	1	0	154	1272				
SLC13A1	6561	broad.mit.edu	37	7	122763231	122763231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122763231C>T	ENST00000194130.2	-	12	1338	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	433					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGGCTATATCCCAGGGCATGA	0.378																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1297-1299)tgG>tgA		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						138.0	137.0	137.0					7																	122763231		2203	4300	6503	SO:0001587	stop_gained	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122763231C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1299G>A	7.37:g.122763231C>T	ENSP00000194130:p.Trp433*					SLC13A1_ENST00000539873.1_3'UTR	p.W433*	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			12	1338	-			433					Q9H5Z0	Nonsense_Mutation	SNP	ENST00000194130.2	37	c.1299G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	37	6.582130	0.97680	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.77	5.77	0.91146	.	0.118903	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	.	.	.	X	433	.	ENSP00000194130:W433X	W	-	3	0	SLC13A1	122550467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.251000	0.78297	2.728000	0.93425	0.591000	0.81541	TGG		0.378	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		63	297	0	0	0	1	0	63	297				
PRF1	5551	broad.mit.edu	37	10	72357840	72357840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72357840G>A	ENST00000441259.1	-	3	1797	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	546					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTTTCCTGGAGGCTCCCCCAG	0.582			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD040316	PRF1	D		c.(1636-1638)cCt>cTt		perforin 1 (pore forming protein)							53.0	55.0	54.0					10																	72357840		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72357840G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1637C>T	10.37:g.72357840G>A	ENSP00000398568:p.Pro546Leu					PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1797	-			546					B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1637C>T	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.901039	0.33535	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91295	-2.82;-2.82	5.97	3.14	0.36123	.	0.273424	0.37012	N	0.002299	D	0.87099	0.6093	M	0.66378	2.025	0.40045	D	0.975705	B	0.16603	0.018	B	0.09377	0.004	T	0.79890	-0.1612	10	0.32370	T	0.25	-9.7627	8.3575	0.32340	0.2439:0.0:0.7561:0.0	.	546	P14222	PERF_HUMAN	L	546	ENSP00000362305:P546L;ENSP00000398568:P546L	ENSP00000316746:P546L	P	-	2	0	PRF1	72027846	0.691000	0.27709	0.695000	0.30226	0.527000	0.34593	1.124000	0.31320	0.426000	0.26116	-0.140000	0.14226	CCT		0.582	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		60	246	0	0	0	1	0	60	246				
DEF8	54849	broad.mit.edu	37	16	90027341	90027341	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90027341T>C	ENST00000268676.7	+	7	789	c.700T>C	c.(700-702)Tgt>Cgt	p.C234R	DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000569453.1_Missense_Mutation_p.C173R|DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000563594.1_Missense_Mutation_p.C173R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000563848.1_3'UTR	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	234					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CACCCTAGGGTGTTATTACCG	0.582																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(517-519)Tgt>Cgt		differentially expressed in FDCP 8 homolog (mouse)							154.0	134.0	141.0					16																	90027341		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90027341T>C	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.700T>C	16.37:g.90027341T>C	ENSP00000268676:p.Cys234Arg					DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000268676.7_Missense_Mutation_p.C234R|DEF8_ENST00000569453.1_Missense_Mutation_p.C173R	p.C173R	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	7	1514	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	234					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.517T>C	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470659	0.43942	.	.	ENSG00000140995	ENST00000268676	D	0.99876	-7.41	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.138480	0.51477	D	0.000081	D	0.99876	0.9941	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.995;0.996	D	0.96365	0.9269	10	0.87932	D	0	-25.1315	12.6876	0.56956	0.0:0.0:0.0:1.0	.	173;163;234	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	R	234	ENSP00000268676:C234R	ENSP00000268676:C234R	C	+	1	0	DEF8	88554842	1.000000	0.71417	0.789000	0.31954	0.172000	0.22775	7.164000	0.77533	1.721000	0.51461	0.379000	0.24179	TGT		0.582	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		208	616	0	0	0	1	0	208	616				
SLC12A2	6558	broad.mit.edu	37	5	127497402	127497402	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127497402T>C	ENST00000262461.2	+	17	2715	c.2526T>C	c.(2524-2526)taT>taC	p.Y842Y	SLC12A2_ENST00000343225.4_Silent_p.Y842Y	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	842					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AAGCCAAATATCAGCGATGGC	0.353																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2524-2526)taT>taC		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						62.0	57.0	59.0					5																	127497402		2203	4299	6502	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127497402T>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2526T>C	5.37:g.127497402T>C						SLC12A2_ENST00000343225.4_Silent_p.Y842Y	p.Y842Y	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	17	2715	+		all_cancers(142;0.0972)|Prostate(80;0.151)	842					Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.2526T>C	CCDS4144.1																																																																																				0.353	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		13	61	0	0	0	1	0	13	61				
TTC1	7265	broad.mit.edu	37	5	159437762	159437762	+	Missense_Mutation	SNP	C	C	T	rs41275307		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159437762C>T	ENST00000231238.5	+	2	337	c.227C>T	c.(226-228)gCg>gTg	p.A76V	TTC1_ENST00000522793.1_Missense_Mutation_p.A76V|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	76					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GAGCCAGGAGCGGACAAGGTT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20866	0.0		0.0	False		,,,				2504	0.001					ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(226-228)gCg>gTg		tetratricopeptide repeat domain 1		C	VAL/ALA	0,4406		0,0,2203	59.0	57.0	58.0		227	-5.9	0.0	5	dbSNP_127	58	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TTC1	NM_003314.1	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	76/293	159437762	4,13002	2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437762C>T	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.227C>T	5.37:g.159437762C>T	ENSP00000231238:p.Ala76Val					TTC1_ENST00000522793.1_Missense_Mutation_p.A76V	p.A76V	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	337	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	76					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.227C>T	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	C	3.366	-0.129412	0.06753	0.0	4.65E-4	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.18338	2.22;2.22	5.09	-5.92	0.02261	.	1.368040	0.04409	N	0.365678	T	0.07863	0.0197	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.30078	T	0.28	-10.0995	1.5147	0.02503	0.2707:0.3727:0.1379:0.2188	rs41275307	76	Q99614	TTC1_HUMAN	V	76	ENSP00000231238:A76V;ENSP00000429225:A76V	ENSP00000231238:A76V	A	+	2	0	TTC1	159370340	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.420000	0.07062	-1.027000	0.03325	-0.378000	0.06908	GCG		0.453	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		5	140	0	0	0	1	0	5	140				
ZMPSTE24	10269	broad.mit.edu	37	1	40735717	40735717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40735717C>A	ENST00000372759.3	+	5	710	c.545C>A	c.(544-546)tCt>tAt	p.S182Y		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	182					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGCCTGTGTCTTCACTTCTA	0.338																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(544-546)tCt>tAt		zinc metallopeptidase STE24							193.0	201.0	198.0					1																	40735717		2203	4300	6503	SO:0001583	missense	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40735717C>A	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.545C>A	1.37:g.40735717C>A	ENSP00000361845:p.Ser182Tyr						p.S182Y	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		5	710	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	182					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	c.545C>A	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230167	0.58777	.	.	ENSG00000084073	ENST00000372759	D	0.82619	-1.63	5.66	4.69	0.59074	.	0.151556	0.64402	D	0.000016	T	0.77818	0.4187	L	0.29908	0.895	0.49051	D	0.999745	B	0.29886	0.26	B	0.35859	0.212	T	0.76642	-0.2884	10	0.45353	T	0.12	-9.9802	16.0844	0.81031	0.0:0.8661:0.1339:0.0	.	182	O75844	FACE1_HUMAN	Y	182	ENSP00000361845:S182Y	ENSP00000361845:S182Y	S	+	2	0	ZMPSTE24	40508304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.542000	0.60677	2.654000	0.90174	0.650000	0.86243	TCT		0.338	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			209	714	1	0	9.93019e-89	1	1.27394e-88	209	714				
METTL15	196074	broad.mit.edu	37	11	28318399	28318399	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:28318399G>C	ENST00000407364.3	+	6	1051	c.699G>C	c.(697-699)aaG>aaC	p.K233N	METTL15_ENST00000303459.6_Missense_Mutation_p.K233N|METTL15_ENST00000342303.5_Missense_Mutation_p.K233N|METTL15_ENST00000406787.3_Missense_Mutation_p.E219Q			A6NJ78	MET15_HUMAN	methyltransferase like 15	233							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGCATGCCAAGAAAATCGCTT	0.498																																						ENST00000342303.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(697-699)aaG>aaC		methyltransferase like 15							126.0	108.0	114.0					11																	28318399		2202	4299	6501	SO:0001583	missense	196074						methyltransferase activity	g.chr11:28318399G>C	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.699G>C	11.37:g.28318399G>C	ENSP00000384369:p.Lys233Asn					METTL15_ENST00000407364.3_Missense_Mutation_p.K233N|METTL15_ENST00000303459.6_Missense_Mutation_p.K233N|METTL15_ENST00000406787.3_Missense_Mutation_p.E219Q	p.K233N	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN			6	1154	+			233					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	c.699G>C	CCDS44559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.40|14.40	2.525169|2.525169	0.44969|0.44969	.|.	.|.	ENSG00000169519|ENSG00000169519	ENST00000406787|ENST00000342303;ENST00000407364;ENST00000303459	T|T;T;T	0.34275|0.38401	1.37|1.14;1.14;1.14	5.43|5.43	3.12|3.12	0.35913|0.35913	.|S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);	.|0.450346	.|0.24115	.|N	.|0.041411	T|T	0.56187|0.56187	0.1968|0.1968	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D|D;D	0.63046|0.55800	0.992|0.961;0.973	P|D;P	0.54544|0.65233	0.755|0.933;0.887	T|T	0.54166|0.54166	-0.8334|-0.8334	8|9	.|.	.|.	.|.	.|.	9.3675|9.3675	0.38234|0.38234	0.2054:0.0:0.7946:0.0|0.2054:0.0:0.7946:0.0	.|.	219|233;233	A6NJ78-4|A6NJ78;A6NJ78-2	.|MET15_HUMAN;.	Q|N	219|233	ENSP00000385507:E219Q|ENSP00000342259:K233N;ENSP00000384369:K233N;ENSP00000307251:K233N	.|.	E|K	+|+	1|3	0|2	METTL15|METTL15	28274975|28274975	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.986000|0.986000	0.74619|0.74619	4.413000|4.413000	0.59795|0.59795	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.498	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		76	318	0	0	0	1	0	76	318				
TRERF1	55809	broad.mit.edu	37	6	42196122	42196122	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196122A>C	ENST00000372922.4	-	18	4126	c.3564T>G	c.(3562-3564)gaT>gaG	p.D1188E	TRERF1_ENST00000541110.1_Missense_Mutation_p.D1208E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1188	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAATCTTGATCATCCAAGA	0.498																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3622-3624)gaT>gaG		transcriptional regulating factor 1							121.0	105.0	110.0					6																	42196122		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196122A>C	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3564T>G	6.37:g.42196122A>C	ENSP00000362013:p.Asp1188Glu					TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E|TRERF1_ENST00000372922.4_Missense_Mutation_p.D1188E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E	p.D1208E			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4192	-	Colorectal(47;0.196)		1188					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.3624T>G	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557120	0.65425	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12569	2.74;2.67;2.75;2.67;2.68	5.77	-0.61	0.11604	.	0.194080	0.35525	N	0.003150	T	0.02767	0.0083	L	0.27053	0.805	0.35433	D	0.794248	B;B;B;B;P	0.41131	0.005;0.003;0.003;0.005;0.739	B;B;B;B;B	0.40782	0.01;0.004;0.004;0.01;0.34	T	0.44345	-0.9334	10	0.44086	T	0.13	-9.2392	2.0843	0.03642	0.377:0.1345:0.3575:0.131	.	1105;1208;1188;944;956	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	E	1208;1117;1188;1117;1105	ENSP00000439689:D1208E;ENSP00000362008:D1117E;ENSP00000362013:D1188E;ENSP00000339438:D1117E;ENSP00000346285:D1105E	ENSP00000339438:D1117E	D	-	3	2	TRERF1	42304100	0.996000	0.38824	0.982000	0.44146	0.946000	0.59487	0.316000	0.19469	-0.086000	0.12550	0.455000	0.32223	GAT		0.498	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		83	376	0	0	0	1	0	83	376				
GOT1L1	137362	broad.mit.edu	37	8	37794814	37794814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37794814A>G	ENST00000307599.4	-	4	599	c.500T>C	c.(499-501)aTa>aCa	p.I167T	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	167					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATTGAGGAGTATGTCGGGGTC	0.527																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(499-501)aTa>aCa		glutamic-oxaloacetic transaminase 1-like 1							45.0	44.0	44.0					8																	37794814		1870	4098	5968	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794814A>G	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.500T>C	8.37:g.37794814A>G	ENSP00000303077:p.Ile167Thr						p.I167T	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		4	599	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	167					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.500T>C	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	A	7.331	0.618961	0.14129	.	.	ENSG00000169154	ENST00000307599	D	0.90197	-2.63	5.04	0.786	0.18590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.638950	0.04042	N	0.303177	D	0.83760	0.5324	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.19148	0.024	T	0.70854	-0.4759	10	0.72032	D	0.01	0.6327	4.5629	0.12168	0.4287:0.1544:0.0:0.4168	.	167	Q8NHS2	AATC2_HUMAN	T	167	ENSP00000303077:I167T	ENSP00000303077:I167T	I	-	2	0	GOT1L1	37913971	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	0.839000	0.27586	0.237000	0.21200	-0.468000	0.05107	ATA		0.527	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		5	98	0	0	0	1	0	5	98				
SLC6A17	388662	broad.mit.edu	37	1	110716645	110716645	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110716645C>A	ENST00000331565.4	+	4	980	c.495C>A	c.(493-495)atC>atA	p.I165I	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	165					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGTGGAGCATCTTCTATTTCT	0.572																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(493-495)atC>atA		solute carrier family 6 (neutral amino acid transporter), member 17							192.0	186.0	188.0					1																	110716645		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110716645C>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.495C>A	1.37:g.110716645C>A							p.I165I	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	4	980	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	165					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.495C>A	CCDS30799.1																																																																																				0.572	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		61	643	1	0	1.80625e-27	1	2.09175e-27	61	643				
RNF123	63891	broad.mit.edu	37	3	49740132	49740132	+	Missense_Mutation	SNP	C	C	T	rs146532174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49740132C>T	ENST00000327697.6	+	20	1840	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	566					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCTGCCCTGCGCTACTATTG	0.562																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1696-1698)Cgc>Tgc		ring finger protein 123		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	298.0	257.0	271.0		1696	3.2	1.0	3	dbSNP_134	271	1,8599		0,1,4299	yes	missense	RNF123	NM_022064.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	566/1315	49740132	2,13004	2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49740132C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1696C>T	3.37:g.49740132C>T	ENSP00000328287:p.Arg566Cys					RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	p.R566C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	20	1840	+			566					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.1696C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105078	0.77096	2.27E-4	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.79352	-0.93;-1.26	5.2	3.19	0.36642	.	0.000000	0.64402	D	0.000017	T	0.80082	0.4558	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	T	0.81854	-0.0741	10	0.87932	D	0	-24.0101	12.4462	0.55651	0.3556:0.6444:0.0:0.0	.	420;566	C9J266;Q5XPI4	.;RN123_HUMAN	C	566;566;420	ENSP00000328287:R566C;ENSP00000392443:R420C	ENSP00000328287:R566C	R	+	1	0	RNF123	49715136	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.330000	0.33781	2.441000	0.82636	0.655000	0.94253	CGC		0.562	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		159	1424	0	0	0	1	0	159	1424				
CSGALNACT2	55454	broad.mit.edu	37	10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T	rs368373201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R94W(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGAAGATGCGGTCACTGCA	0.428																																						ENST00000374466.3																			1	Substitution - Missense(1)	p.R94W(1)	large_intestine(1)	endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(280-282)Cgg>Tgg		chondroitin sulfate N-acetylgalactosaminyltransferase 2		A	TRP/ARG	0,4406		0,0,2203	62.0	53.0	56.0		280	5.6	1.0	10		56	1,8599		0,1,4299	no	missense	CSGALNACT2	NM_018590.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	94/543	43650877	1,13005	2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650877C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.280C>T	10.37:g.43650877C>T	ENSP00000363590:p.Arg94Trp					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	615	+			94					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.280C>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	A	33	5.252355	0.95336	0.0	1.16E-4	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.78481	2.39;-1.18	5.56	5.56	0.83823	.	0.122893	0.64402	D	0.000001	D	0.83677	0.5306	L	0.55481	1.735	0.43857	D	0.996457	D;D	0.71674	0.995;0.998	P;P	0.62491	0.865;0.903	D	0.84506	0.0619	10	0.87932	D	0	-12.2648	13.2048	0.59788	0.8669:0.1331:0.0:0.0	.	94;94	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	W	94	ENSP00000363590:R94W;ENSP00000363588:R94W	ENSP00000363588:R94W	R	+	1	2	CSGALNACT2	42970883	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	5.736000	0.68597	1.051000	0.40369	-0.264000	0.10439	CGG		0.428	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		8	246	0	0	0	1	0	8	246				
PLXNB3	5365	broad.mit.edu	37	X	153032536	153032536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032536C>T	ENST00000361971.5	+	3	368	c.254C>T	c.(253-255)gCc>gTc	p.A85V	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A108V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	85	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGAGGCCGTGGCTGTC	0.642																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(322-324)gCc>gTc		plexin B3							38.0	32.0	34.0					X																	153032536		2202	4299	6501	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032536C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.254C>T	X.37:g.153032536C>T	ENSP00000355378:p.Ala85Val					PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A85V|PLXNB3_ENST00000538543.1_Intron	p.A108V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	594	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		85			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.323C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	5.906	0.351217	0.11182	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04275	3.66;3.66	4.92	2.04	0.26737	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.943604	0.08769	N	0.896659	T	0.02610	0.0079	N	0.11313	0.125	0.09310	N	1	B;B	0.21688	0.059;0.007	B;B	0.28465	0.09;0.021	T	0.49818	-0.8899	10	0.19590	T	0.45	.	1.1318	0.01746	0.1506:0.3674:0.2593:0.2226	.	108;85	F5H773;Q9ULL4	.;PLXB3_HUMAN	V	108;85	ENSP00000442736:A108V;ENSP00000355378:A85V	ENSP00000355378:A85V	A	+	2	0	PLXNB3	152685730	0.000000	0.05858	0.036000	0.18154	0.099000	0.18886	-0.384000	0.07389	0.863000	0.35553	-0.296000	0.09543	GCC		0.642	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			48	148	0	0	0	1	0	48	148				
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32725559C>T	ENST00000437316.2	-	4	811	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.G250S			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(748-750)Ggt>Agt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725559C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.748G>A	6.37:g.32725559C>T	ENSP00000396330:p.Gly250Ser					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S	p.G250S			Q5SR06	Q5SR06_HUMAN			4	809	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.519393	0.00149	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00623	6.18;6.15	3.24	-1.21	0.09524	.	0.870743	0.09631	N	0.776240	T	0.00178	0.0005	.	.	.	0.21967	N	0.999447	B	0.10296	0.003	B	0.09377	0.004	T	0.22277	-1.0221	9	0.36615	T	0.2	.	4.3261	0.11041	0.0:0.2114:0.1703:0.6183	.	250	A2ADX3	.	S	250	ENSP00000396330:G250S;ENSP00000410512:G250S	ENSP00000410512:G250S	G	-	1	0	HLA-DQB2	32833537	0.000000	0.05858	0.134000	0.22075	0.023000	0.10783	0.266000	0.18534	-0.331000	0.08501	-1.846000	0.00573	GGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			16	86	0	0	0	1	0	16	86				
GPRASP2	114928	broad.mit.edu	37	X	101970438	101970438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970438C>T	ENST00000535209.1	+	4	1472	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A214V			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	214						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGCCCAGGGCCAGAGAGGAG	0.542																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(640-642)gCc>gTc		G protein-coupled receptor associated sorting protein 2							100.0	109.0	106.0					X																	101970438		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970438C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.641C>T	X.37:g.101970438C>T	ENSP00000437394:p.Ala214Val					GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A214V	p.A214V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1560	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.641C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085611	0.20390	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07114	3.22;3.22;3.22	5.05	3.25	0.37280	.	0.306114	0.23861	N	0.043841	T	0.05318	0.0141	N	0.20530	0.585	0.32385	N	0.55402	B	0.21905	0.062	B	0.19391	0.025	T	0.22452	-1.0216	10	0.25751	T	0.34	.	8.2111	0.31483	0.0:0.7519:0.1559:0.0922	.	214	Q96D09	GASP2_HUMAN	V	214	ENSP00000437872:A214V;ENSP00000437394:A214V;ENSP00000339057:A214V	ENSP00000339057:A214V	A	+	2	0	GPRASP2	101857094	0.678000	0.27586	0.396000	0.26296	0.002000	0.02628	1.146000	0.31589	0.590000	0.29694	-0.218000	0.12543	GCC		0.542	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		193	672	0	0	0	1	0	193	672				
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm (GO:0005737)		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478																																						ENST00000374160.3																			1	Substitution - Missense(1)	p.R31C(1)	endometrium(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(91-93)Cgc>Tgc		leucine rich repeat containing 18							85.0	75.0	79.0					10																	50122110		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50122110G>A	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.91C>T	10.37:g.50122110G>A	ENSP00000363275:p.Arg31Cys					WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|RP11-523O18.7_ENST00000430438.1_RNA	p.R31C	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN			1	167	-			31		R -> H (in dbSNP:rs17772611).			Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.91C>T	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065149	0.76187	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.53206	0.63;0.63	6.06	6.06	0.98353	.	0.109676	0.56097	D	0.000023	T	0.61123	0.2322	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55418	-0.8144	9	.	.	.	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	31	Q8N456	LRC18_HUMAN	C	31	ENSP00000363275:R31C;ENSP00000298124:R31C	.	R	-	1	0	LRRC18	49792116	1.000000	0.71417	0.956000	0.39512	0.917000	0.54804	5.111000	0.64628	2.880000	0.98712	0.650000	0.86243	CGC		0.478	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		35	184	0	0	0	1	0	35	184				
SORL1	6653	broad.mit.edu	37	11	121383800	121383800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121383800G>T	ENST00000260197.7	+	7	1157	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	343					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTGTCACAAGACATCCTATT	0.522																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(1027-1029)aGa>aTa		sortilin-related receptor, L(DLR class) A repeats containing							111.0	105.0	107.0					11																	121383800		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121383800G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1028G>T	11.37:g.121383800G>T	ENSP00000260197:p.Arg343Ile					SORL1_ENST00000532451.1_3'UTR	p.R343I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	7	1157	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	343					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.1028G>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456427	0.63401	.	.	ENSG00000137642	ENST00000260197	T	0.27557	1.66	5.19	4.27	0.50696	VPS10 (1);	0.248756	0.37715	N	0.001971	T	0.25606	0.0623	L	0.29908	0.895	0.80722	D	1	P	0.36183	0.542	B	0.41412	0.356	T	0.05937	-1.0855	10	0.59425	D	0.04	.	8.0411	0.30521	0.2403:0.0:0.7597:0.0	.	343	Q92673	SORL_HUMAN	I	343	ENSP00000260197:R343I	ENSP00000260197:R343I	R	+	2	0	SORL1	120889010	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.191000	0.50981	1.174000	0.42811	0.655000	0.94253	AGA		0.522	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		76	333	1	0	8.87156e-34	1	1.0529e-33	76	333				
AKAP9	10142	broad.mit.edu	37	7	91631643	91631643	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631643T>C	ENST00000359028.2	+	9	2673	c.2448T>C	c.(2446-2448)atT>atC	p.I816I	AKAP9_ENST00000358100.2_Silent_p.I816I|AKAP9_ENST00000356239.3_Silent_p.I804I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	816	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGATTGATTTTCTTAGACT	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2446-2448)atT>atC		A kinase (PRKA) anchor protein 9							70.0	77.0	74.0					7																	91631643		2203	4296	6499	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631643T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2448T>C	7.37:g.91631643T>C						AKAP9_ENST00000356239.3_Silent_p.I804I|AKAP9_ENST00000358100.2_Silent_p.I816I	p.I816I			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2673	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		816			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.2448T>C																																																																																					0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		87	355	0	0	0	1	0	87	355				
KCNN1	3780	broad.mit.edu	37	19	18092875	18092875	+	Missense_Mutation	SNP	C	C	A	rs376715013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18092875C>A	ENST00000222249.9	+	5	1175	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	286					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CGGCACCGTGCTGCTGGTCTT	0.667																																						ENST00000601725.1																			0																				42.0	30.0	34.0					19																	18092875		2203	4300	6503	SO:0001583	missense	0							g.chr19:18092875C>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.856C>A	19.37:g.18092875C>A	ENSP00000476519:p.Leu286Met													0	491	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37			.	.	.	.	.	.	.	.	.	.	C	18.71	3.681795	0.68042	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.11	2.88	0.33553	.	0.000000	0.64402	D	0.000007	T	0.78648	0.4316	M	0.88704	2.975	0.46203	D	0.998929	D	0.89917	1.0	D	0.80764	0.994	T	0.79831	-0.1637	9	0.87932	D	0	-15.4501	8.0594	0.30625	0.0:0.7347:0.0:0.2653	.	286	Q92952	KCNN1_HUMAN	M	303;286	.	ENSP00000222249:L303M	L	+	1	2	KCNN1	17953875	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	3.218000	0.51192	1.117000	0.41842	0.561000	0.74099	CTG		0.667	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		12	34	1	0	2.27111e-07	1	2.35674e-07	12	34				
ALDH16A1	126133	broad.mit.edu	37	19	49965961	49965961	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49965961A>G	ENST00000293350.4	+	8	1210	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000540132.1_Silent_p.A186A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|ALDH16A1_ENST00000433981.2_Silent_p.A184A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	349						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGCTGCCGCATGTGACCTGG	0.697																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1045-1047)gcA>gcG		aldehyde dehydrogenase 16 family, member A1							23.0	26.0	25.0					19																	49965961		2202	4299	6501	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49965961A>G	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1047A>G	19.37:g.49965961A>G						ALDH16A1_ENST00000433981.2_Silent_p.A184A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|ALDH16A1_ENST00000540132.1_Silent_p.A186A	p.A349A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	8	1210	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	349					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.1047A>G	CCDS12766.1																																																																																				0.697	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		49	249	0	0	0	1	0	49	249				
CARD11	84433	broad.mit.edu	37	7	2952980	2952980	+	Missense_Mutation	SNP	G	G	A	rs376039195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2952980G>A	ENST00000396946.4	-	22	3363	c.2960C>T	c.(2959-2961)aCg>aTg	p.T987M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	987	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTGCACCAGCGTCTTGGCCAG	0.672			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2959-2961)aCg>aTg		caspase recruitment domain family, member 11		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	65.0	66.0	65.0		2960	4.4	1.0	7		65	0,8598		0,0,4299	no	missense	CARD11	NM_032415.4	81	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	987/1155	2952980	1,13003	2203	4299	6502	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2952980G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2960C>T	7.37:g.2952980G>A	ENSP00000380150:p.Thr987Met						p.T987M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	22	3363	-		Ovarian(82;0.0115)	987			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2960C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638367	0.29157	2.27E-4	0.0	ENSG00000198286	ENST00000396946	T	0.31769	1.48	4.36	4.36	0.52297	.	0.307048	0.30556	N	0.009370	T	0.17280	0.0415	N	0.08118	0	0.44092	D	0.996857	P	0.35050	0.482	B	0.37047	0.24	T	0.09164	-1.0687	10	0.44086	T	0.13	-21.0385	10.5667	0.45177	0.0894:0.0:0.9106:0.0	.	987	Q9BXL7	CAR11_HUMAN	M	987	ENSP00000380150:T987M	ENSP00000380150:T987M	T	-	2	0	CARD11	2919506	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	5.970000	0.70431	1.985000	0.57927	0.484000	0.47621	ACG		0.672	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		116	464	0	0	0	1	0	116	464				
POM121C	100101267	broad.mit.edu	37	7	75051253	75051253	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75051253G>A	ENST00000257665.5	-	11	3007	c.3008C>T	c.(3007-3009)aCg>aTg	p.T1003M	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.T761M			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1003	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGATGGGCGTAGGCACGTG	0.637																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(2281-2283)aCg>aTg		POM121 transmembrane nucleoporin C							34.0	36.0	35.0					7																	75051253		2203	4300	6503	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051253G>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3008C>T	7.37:g.75051253G>A	ENSP00000257665:p.Thr1003Met					POM121C_ENST00000257665.5_Missense_Mutation_p.T1003M	p.T761M	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			13	3146	-			1003			Pore side (Potential).|Thr-rich.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2282C>T		.	.	.	.	.	.	.	.	.	.	G	12.64	1.999216	0.35226	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.19669	3.61;2.13	0.351	0.351	0.16042	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.31283	N	0.690388	D	0.69078	0.997	P	0.45071	0.468	T	0.22591	-1.0212	8	0.62326	D	0.03	.	.	.	.	.	1003	A8CG34	P121C_HUMAN	M	1003;761	ENSP00000257665:T1003M;ENSP00000414208:T761M	ENSP00000257665:T1003M	T	-	2	0	POM121C	74889189	0.201000	0.23410	0.009000	0.14445	0.003000	0.03518	0.672000	0.25187	0.399000	0.25367	0.404000	0.27445	ACG		0.637	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		10	333	0	0	0	1	0	10	333				
SGK223	157285	broad.mit.edu	37	8	8175943	8175943	+	Silent	SNP	G	G	T	rs369760194		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175943G>T	ENST00000520004.1	-	6	4206	c.3942C>A	c.(3940-3942)atC>atA	p.I1314I	SGK223_ENST00000330777.4_Silent_p.I1314I			Q86YV5	SG223_HUMAN		1318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGGCCTCGCCGATGCGGATAC	0.716																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3940-3942)atC>atA									25.0	28.0	27.0					8																	8175943		2041	4178	6219	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175943G>T																												ENST00000520004.1:c.3942C>A	8.37:g.8175943G>T						SGK223_ENST00000330777.4_Silent_p.I1314I	p.I1314I			Q86YV5	SG223_HUMAN			6	4206	-			1314			Protein kinase.		Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.3942C>A	CCDS43706.1																																																																																				0.716	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			72	315	1	0	1.1794e-34	1	1.40398e-34	72	315				
IKZF1	10320	broad.mit.edu	37	7	50468219	50468219	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50468219G>T	ENST00000331340.3	+	8	1609	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	485					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.G485D(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGCTGCCACGGCTTCCGTGAT	0.587			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		29	Unknown(28)|Substitution - Missense(1)	p.?(28)|p.G485D(1)	haematopoietic_and_lymphoid_tissue(28)|large_intestine(1)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1453-1455)gGc>gTc		IKAROS family zinc finger 1 (Ikaros)							48.0	55.0	52.0					7																	50468219		2192	4296	6488	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468219G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1454G>T	7.37:g.50468219G>T	ENSP00000331614:p.Gly485Val					IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V	p.G485V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1609	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	485					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1454G>T		.	.	.	.	.	.	.	.	.	.	G	31	5.065362	0.93898	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	.	.	.	0.80722	D	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;1.0;1.0;1.0	T	0.71748	-0.4499	9	0.72032	D	0.01	-5.2298	19.9376	0.97146	0.0:0.0:1.0:0.0	.	398;255;398;443;485	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	V	255;398;443;342;398;485;398;443	ENSP00000340080:G255V;ENSP00000342750:G398V;ENSP00000352123:G443V;ENSP00000342485:G342V;ENSP00000349928:G398V;ENSP00000331614:G485V;ENSP00000396554:G398V;ENSP00000413025:G443V	ENSP00000331614:G485V	G	+	2	0	IKZF1	50435713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.899000	0.87370	2.711000	0.92665	0.655000	0.94253	GGC		0.587	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		45	189	1	0	2.37825e-27	1	2.75276e-27	45	189				
NTM	50863	broad.mit.edu	37	11	131781469	131781469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:131781469C>T	ENST00000374786.1	+	1	573	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	NTM_ENST00000427481.2_Missense_Mutation_p.R23C|NTM_ENST00000374784.1_Missense_Mutation_p.R32C|NTM_ENST00000539799.1_Missense_Mutation_p.R32C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C|NTM_ENST00000425719.2_Missense_Mutation_p.R32C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	32					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTGCCCGTGCGCAGCGGAGA	0.617											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(94-96)Cgc>Tgc		neurotrimin							87.0	82.0	84.0					11																	131781469		2200	4275	6475	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:131781469C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.94C>T	11.37:g.131781469C>T	ENSP00000363918:p.Arg32Cys		OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590	NTM_ENST00000539799.1_Missense_Mutation_p.R32C|NTM_ENST00000425719.2_Missense_Mutation_p.R32C|NTM_ENST00000427481.2_Missense_Mutation_p.R23C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C|NTM_ENST00000374784.1_Missense_Mutation_p.R32C	p.R32C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			1	573	+			32					A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.94C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695433	0.88830	.	.	ENSG00000182667	ENST00000374791;ENST00000436745;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.60672	0.18;0.18;0.19;0.17;0.23;0.2;0.18	5.28	5.28	0.74379	.	0.069171	0.53938	D	0.000044	T	0.70842	0.3270	M	0.71581	2.175	0.58432	D	0.999996	D;P;D;B;D;D	0.69078	0.98;0.918;0.997;0.078;0.98;0.98	P;P;P;B;P;P	0.54924	0.462;0.462;0.761;0.038;0.764;0.764	T	0.74278	-0.3717	10	0.59425	D	0.04	-13.7454	18.896	0.92423	0.0:1.0:0.0:0.0	.	32;23;32;32;32;32	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	C	32;23;32;23;23;32;32;32	ENSP00000363923:R32C;ENSP00000437668:R32C;ENSP00000448104:R23C;ENSP00000416320:R23C;ENSP00000363918:R32C;ENSP00000396722:R32C;ENSP00000363916:R32C	ENSP00000363916:R32C	R	+	1	0	NTM	131286679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.787000	0.47798	2.479000	0.83701	0.561000	0.74099	CGC		0.617	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		22	491	0	0	0	1	0	22	491				
DDO	8528	broad.mit.edu	37	6	110734632	110734632	+	Missense_Mutation	SNP	C	C	A	rs370410187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110734632C>A	ENST00000368924.3	-	2	133	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	DDO_ENST00000368923.3_Missense_Mutation_p.G40C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	12					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CCCACCACACCTGCCCCGACA	0.522																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(118-120)Ggt>Tgt		D-aspartate oxidase							145.0	139.0	141.0					6																	110734632		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110734632C>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.118G>T	6.37:g.110734632C>A	ENSP00000357920:p.Gly40Cys					DDO_ENST00000368925.1_Missense_Mutation_p.G12C|DDO_ENST00000368923.3_Missense_Mutation_p.G40C	p.G40C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	2	133	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	12					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.118G>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471670	0.84533	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.99860	-7.25;-7.25;-7.25	5.32	5.32	0.75619	.	0.110120	0.64402	D	0.000009	D	0.99926	0.9966	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96008	0.8999	10	0.87932	D	0	-18.4927	18.6022	0.91253	0.0:1.0:0.0:0.0	.	40;40	Q99489-4;Q99489-3	.;.	C	40;40;12	ENSP00000357920:G40C;ENSP00000357919:G40C;ENSP00000357921:G12C	ENSP00000357919:G40C	G	-	1	0	DDO	110841325	1.000000	0.71417	0.197000	0.23402	0.045000	0.14185	7.065000	0.76727	2.475000	0.83589	0.462000	0.41574	GGT		0.522	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			140	760	1	0	1.26214e-75	1	1.60976e-75	140	760				
TRIM36	55521	broad.mit.edu	37	5	114483023	114483023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114483023C>A	ENST00000282369.3	-	3	488	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.D111Y|TRIM36_ENST00000515104.1_5'UTR|TRIM36-IT1_ENST00000503723.1_RNA	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	123					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTCCAAGATCCACATCATGC	0.443																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(331-333)Gat>Tat		tripartite motif containing 36							164.0	148.0	153.0					5																	114483023		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114483023C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.367G>T	5.37:g.114483023C>A	ENSP00000282369:p.Asp123Tyr					TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.D123Y	p.D111Y			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	3	657	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	123					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.331G>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508975	0.85282	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.87887	-2.31;-2.31;-2.31	5.24	5.24	0.73138	Zinc finger, RING/FYVE/PHD-type (1);	0.098563	0.64402	D	0.000002	D	0.88855	0.6550	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.947	D	0.83406	0.0025	10	0.02654	T	1	.	18.8341	0.92153	0.0:1.0:0.0:0.0	.	111;123	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	123;111;121	ENSP00000282369:D123Y;ENSP00000423934:D111Y;ENSP00000424743:D121Y	ENSP00000282369:D123Y	D	-	1	0	TRIM36	114510922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.380000	0.79704	2.418000	0.82041	0.591000	0.81541	GAT		0.443	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		129	510	1	0	3.47496e-60	1	4.36768e-60	129	510				
GRAMD2	196996	broad.mit.edu	37	15	72455661	72455661	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72455661C>T	ENST00000309731.7	-	10	915	c.902G>A	c.(901-903)aGc>aAc	p.S301N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	301						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CTCCCCAGTGCTCCTGGGCTC	0.577																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(901-903)aGc>aAc		GRAM domain containing 2							73.0	75.0	74.0					15																	72455661		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72455661C>T	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.902G>A	15.37:g.72455661C>T	ENSP00000311657:p.Ser301Asn					GRAMD2_ENST00000564184.1_5'UTR	p.S301N	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			10	915	-			301					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.902G>A	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637417	0.14386	.	.	ENSG00000175318	ENST00000309731	T	0.32272	1.46	5.46	2.45	0.29901	.	0.839871	0.11079	N	0.602061	T	0.25082	0.0609	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30001	-0.9993	10	0.20519	T	0.43	.	8.5009	0.33156	0.0:0.6177:0.3011:0.0812	.	301	Q8IUY3	GRAM2_HUMAN	N	301	ENSP00000311657:S301N	ENSP00000311657:S301N	S	-	2	0	GRAMD2	70242715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.216000	0.17585	0.235000	0.21160	0.655000	0.94253	AGC		0.577	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		41	395	0	0	0	1	0	41	395				
RASSF6	166824	broad.mit.edu	37	4	74447568	74447568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74447568C>A	ENST00000342081.3	-	8	913	c.783G>T	c.(781-783)caG>caT	p.Q261H	RASSF6_ENST00000307439.5_Missense_Mutation_p.Q229H|RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H|RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	261	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGCAAAATCCTGGGGACTAT	0.383																																						ENST00000307439.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(685-687)caG>caT		Ras association (RalGDS/AF-6) domain family member 6							89.0	92.0	91.0					4																	74447568		2203	4300	6503	SO:0001583	missense	166824				apoptosis|signal transduction		protein binding	g.chr4:74447568C>A	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.783G>T	4.37:g.74447568C>A	ENSP00000340578:p.Gln261His					RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H|RASSF6_ENST00000342081.3_Missense_Mutation_p.Q261H|RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H	p.Q229H	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		8	981	-	Breast(15;0.00102)		261			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	c.687G>T	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771961	0.31320	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.30714	2.24;2.24;1.52;2.24	5.38	2.71	0.32032	Ras-association (3);	0.521869	0.22492	N	0.059351	T	0.23492	0.0568	L	0.41961	1.31	0.25594	N	0.986662	B;B;B	0.29835	0.11;0.029;0.258	B;B;B	0.31614	0.037;0.032;0.133	T	0.13737	-1.0498	10	0.37606	T	0.19	-8.2678	6.7214	0.23332	0.0:0.7153:0.0:0.2846	.	217;195;261	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	H	229;261;195;217	ENSP00000303877:Q229H;ENSP00000340578:Q261H;ENSP00000379123:Q195H;ENSP00000335582:Q217H	ENSP00000303877:Q229H	Q	-	3	2	RASSF6	74666432	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.290000	0.18975	0.653000	0.30826	0.591000	0.81541	CAG		0.383	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		59	294	1	0	2.44918e-20	1	2.7432e-20	59	294				
PFKM	5213	broad.mit.edu	37	12	48537573	48537573	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48537573C>A	ENST00000312352.7	+	19	1895	c.1856C>A	c.(1855-1857)aCt>aAt	p.T619N	PFKM_ENST00000359794.5_Missense_Mutation_p.T619N|PFKM_ENST00000547587.1_Missense_Mutation_p.T619N|PFKM_ENST00000340802.6_Missense_Mutation_p.T690N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N|PFKM_ENST00000551804.1_Missense_Mutation_p.T588N	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	619	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAAAACAACTGTGAAAAGG	0.383																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2068-2070)aCt>aAt		phosphofructokinase, muscle							164.0	152.0	156.0					12																	48537573		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48537573C>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1856C>A	12.37:g.48537573C>A	ENSP00000309438:p.Thr619Asn					PFKM_ENST00000547587.1_Missense_Mutation_p.T619N|PFKM_ENST00000551804.1_Missense_Mutation_p.T588N|PFKM_ENST00000359794.5_Missense_Mutation_p.T619N|PFKM_ENST00000312352.7_Missense_Mutation_p.T619N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N	p.T690N	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			21	2293	+			619					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.2069C>A	CCDS8760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.897081|2.897081	0.52121|0.52121	.|.	.|.	ENSG00000152556|ENSG00000152556	ENST00000553055|ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	.|T;T;T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Phosphofructokinase domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69115|0.69115	0.3075|0.3075	N|N	0.11724|0.11724	0.165|0.165	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.10296	.|0.003;0.0;0.001	.|B;B;B	.|0.17722	.|0.019;0.009;0.003	T|T	0.64466|0.64466	-0.6401|-0.6401	5|10	.|0.48119	.|T	.|0.1	-5.2747|-5.2747	18.429|18.429	0.90618|0.90618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|588;619;690	.|P08237-2;P08237;Q6ZTT1	.|.;K6PF_HUMAN;.	K|N	44|690;619;588;588;619;619	.|ENSP00000345771:T690N;ENSP00000352842:T619N;ENSP00000378656:T588N;ENSP00000448177:T588N;ENSP00000449426:T619N;ENSP00000309438:T619N	.|ENSP00000309438:T619N	N|T	+|+	3|2	2|0	PFKM|PFKM	46823840|46823840	0.395000|0.395000	0.25254|0.25254	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.493000|1.493000	0.35605|0.35605	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	AAC|ACT		0.383	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		15	431	1	0	3.52763e-06	1	3.62938e-06	15	431				
CLUAP1	23059	broad.mit.edu	37	16	3569998	3569998	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3569998A>G	ENST00000576634.1	+	7	819	c.675A>G	c.(673-675)gaA>gaG	p.E225E	CLUAP1_ENST00000571025.1_Silent_p.E225E|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000572600.1_Silent_p.E59E|CLUAP1_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000341633.5_Silent_p.E225E	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	225					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TAGAACTGGAAAGAAATCGGA	0.403																																						ENST00000571025.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						c.(673-675)gaA>gaG		clusterin associated protein 1							93.0	95.0	94.0					16																	3569998		2197	4300	6497	SO:0001819	synonymous_variant	23059					nucleus	protein binding	g.chr16:3569998A>G	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.675A>G	16.37:g.3569998A>G						CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000341633.5_Silent_p.E225E|CLUAP1_ENST00000576634.1_Silent_p.E225E|CLUAP1_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000572600.1_Silent_p.E59E	p.E225E			Q96AJ1	CLUA1_HUMAN			7	725	+			225					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	c.675A>G	CCDS32381.1																																																																																				0.403	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		116	462	0	0	0	1	0	116	462				
ZDHHC7	55625	broad.mit.edu	37	16	85024017	85024017	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85024017G>T	ENST00000313732.4	-	3	560	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	70					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						GAAGGCAGCAGCATGACGAAA	0.557																																						ENST00000313732.4																			0				large_intestine(6)|lung(4)	10						c.(208-210)Ctg>Atg		zinc finger, DHHC-type containing 7							116.0	90.0	99.0					16																	85024017		2199	4300	6499	SO:0001583	missense	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85024017G>T	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.208C>A	16.37:g.85024017G>T	ENSP00000315604:p.Leu70Met					ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M|ZDHHC7_ENST00000569488.1_5'UTR	p.L70M	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN			3	560	-			70					D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	c.208C>A	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341290	0.60963	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.41758	0.99;1.22	5.07	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.69358	2.11	0.80722	D	1	D;D	0.61080	0.964;0.989	D;D	0.63488	0.915;0.912	T	0.57365	-0.7824	10	0.62326	D	0.03	-12.2093	9.1614	0.37025	0.2827:0.0:0.7173:0.0	.	70;70	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	M	70	ENSP00000315604:L70M;ENSP00000341681:L70M	ENSP00000315604:L70M	L	-	1	2	ZDHHC7	83581518	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.348000	0.44045	1.119000	0.41883	0.313000	0.20887	CTG		0.557	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		31	164	1	0	7.68411e-24	1	8.75532e-24	31	164				
MDFIC	29969	broad.mit.edu	37	7	114655944	114655944	+	Nonsense_Mutation	SNP	C	C	A	rs200421830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114655944C>A	ENST00000393486.1	+	5	1286	c.696C>A	c.(694-696)tgC>tgA	p.C232*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.C341*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CATCAGACTGCTTGGAAATCT	0.403																																						ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(1021-1023)tgC>tgA		MyoD family inhibitor domain containing							286.0	253.0	264.0					7																	114655944		2203	4300	6503	SO:0001587	stop_gained	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655944C>A	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.696C>A	7.37:g.114655944C>A	ENSP00000377126:p.Cys232*					MDFIC_ENST00000393486.1_Nonsense_Mutation_p.C232*	p.C341*			Q9P1T7	MDFIC_HUMAN			5	1286	+			232						Nonsense_Mutation	SNP	ENST00000393486.1	37	c.1023C>A	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466091	0.96257	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.64	2.07	0.26955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2707	8.9423	0.35738	0.0:0.3193:0.0:0.6807	.	.	.	.	X	341;232	.	ENSP00000257724:C341X	C	+	3	2	MDFIC	114443180	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	1.336000	0.33850	0.117000	0.18138	-0.471000	0.05019	TGC		0.403	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		158	723	1	0	1.893e-82	1	2.42261e-82	158	723				
TSHR	7253	broad.mit.edu	37	14	81609439	81609439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609439C>T	ENST00000541158.2	+	11	1359	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.T346I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	346					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCCAGGATACTCATAACAAC	0.438			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1036-1038)aCt>aTt		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						224.0	203.0	210.0					14																	81609439		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609439C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1037C>T	14.37:g.81609439C>T	ENSP00000441235:p.Thr346Ile					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.T346I	p.T346I			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1359	+			346					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1037C>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404780	0.01155	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75154	-0.91;-0.91	5.78	-1.26	0.09376	.	0.851176	0.10874	N	0.624546	T	0.50871	0.1641	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25537	-1.0129	10	0.18710	T	0.47	.	2.0865	0.03647	0.1153:0.3039:0.1487:0.4321	.	346	F5GYU5	.	I	346	ENSP00000441235:T346I;ENSP00000298171:T346I	ENSP00000298171:T346I	T	+	2	0	TSHR	80679192	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.914000	0.28624	-0.070000	0.12908	0.655000	0.94253	ACT		0.438	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		86	407	0	0	0	1	0	86	407				
DEPDC5	9681	broad.mit.edu	37	22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32270272C>A	ENST00000382112.3	+	35	3620	c.3550C>A	c.(3550-3552)Ctg>Atg	p.L1184M	DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1193M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1193					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAGTCCAGCTGCTCTCTGA	0.572																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3577-3579)Ctg>Atg		DEP domain containing 5							42.0	45.0	44.0					22																	32270272		2047	4195	6242	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32270272C>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3550C>A	22.37:g.32270272C>A	ENSP00000371546:p.Leu1184Met					DEPDC5_ENST00000400248.1_Missense_Mutation_p.L1162M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1184M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M	p.L1193M			O75140	DEPD5_HUMAN			36	3719	+			1162			DEP.		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3577C>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985187|3.985187	0.74474|0.74474	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T;T	.|0.37915	.|2.35;2.35;2.35;2.35;1.17;2.35;2.35;2.35;2.35	4.92|4.92	3.88|3.88	0.44766|0.44766	.|DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999984|0.999984	.|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	.|0.91635	.|0.999;0.999;0.999;0.998;0.999;0.999	T|T	0.34925|0.34925	-0.9809|-0.9809	5|10	.|0.16420	.|T	.|0.52	.|.	12.9143|12.9143	0.58197|0.58197	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|1193;1093;579;1171;1184;1162	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	D|M	568|1093;1171;1162;1093;1193;1115;1184;1193;1162;10	.|ENSP00000440210:L1093M;ENSP00000266091:L1171M;ENSP00000383108:L1162M;ENSP00000383105:L1193M;ENSP00000371539:L1115M;ENSP00000371546:L1184M;ENSP00000371545:L1193M;ENSP00000383107:L1162M;ENSP00000446286:L10M	.|ENSP00000266091:L1171M	A|L	+|+	2|1	0|2	DEPDC5|DEPDC5	30600272|30600272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.227000|3.227000	0.51262|0.51262	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		15	50	1	0	2.31682e-05	1	2.36778e-05	15	50				
PCDHB7	56129	broad.mit.edu	37	5	140553378	140553378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553378C>T	ENST00000231137.3	+	1	1136	c.962C>T	c.(961-963)gCc>gTc	p.A321V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTATTCAGGCCAAAGACGGC	0.423																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(961-963)gCc>gTc									63.0	67.0	66.0					5																	140553378		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553378C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.962C>T	5.37:g.140553378C>T	ENSP00000231137:p.Ala321Val						p.A321V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1136	+			321			Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.962C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165954	0.57476	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.73363	-0.74	4.61	3.66	0.41972	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.84306	0.5443	M	0.73217	2.22	0.43214	D	0.995083	D	0.89917	1.0	D	0.83275	0.996	D	0.86381	0.1729	9	0.87932	D	0	.	14.0288	0.64601	0.0:0.8476:0.1524:0.0	.	321	Q9Y5E2	PCDB7_HUMAN	V	321;104	ENSP00000231137:A321V	ENSP00000231137:A321V	A	+	2	0	PCDHB7	140533562	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	4.882000	0.63121	2.244000	0.73946	0.650000	0.86243	GCC		0.423	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		73	309	0	0	0	1	0	73	309				
SMC1B	27127	broad.mit.edu	37	22	45804686	45804686	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45804686G>A	ENST00000357450.4	-	2	202	c.203C>T	c.(202-204)gCa>gTa	p.A68V	SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	68					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCAATATGTGCTCCATGAAT	0.338																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(202-204)gCa>gTa		structural maintenance of chromosomes 1B							122.0	117.0	118.0					22																	45804686		1806	4072	5878	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45804686G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.203C>T	22.37:g.45804686G>A	ENSP00000350036:p.Ala68Val					SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	p.A68V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	2	202	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	68					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.203C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236098	0.95240	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.09817	2.94;3.25	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000011	T	0.38931	0.1059	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.15093	-1.0449	10	0.72032	D	0.01	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	68;68	Q8NDV3-2;Q8NDV3-3	.;.	V	68	ENSP00000350036:A68V;ENSP00000385902:A68V	ENSP00000350036:A68V	A	-	2	0	SMC1B	44183350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.066000	0.93949	2.773000	0.95371	0.655000	0.94253	GCA		0.338	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		11	415	0	0	0	1	0	11	415				
SPEG	10290	broad.mit.edu	37	2	220338459	220338459	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220338459G>T	ENST00000312358.7	+	18	4413	c.4281G>T	c.(4279-4281)ggG>ggT	p.G1427G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1427	Ig-like 7.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCCGAGGGGCCCTCCTAG	0.657																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4279-4281)ggG>ggT		SPEG complex locus							80.0	92.0	88.0					2																	220338459		2048	4191	6239	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220338459G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4281G>T	2.37:g.220338459G>T						SPEG_ENST00000485813.1_3'UTR	p.G1427G	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	18	4413	+		Renal(207;0.0183)	1427			Ig-like 7.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4281G>T	CCDS42824.1																																																																																				0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		165	898	1	0	2.82259e-58	1	3.53906e-58	165	898				
ANO3	63982	broad.mit.edu	37	11	26619917	26619917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619917G>T	ENST00000256737.3	+	15	2305	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	ANO3_ENST00000531568.1_Missense_Mutation_p.V339F|ANO3_ENST00000525139.1_Missense_Mutation_p.V469F|ANO3_ENST00000537978.1_Missense_Mutation_p.V469F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	485					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TATAGCCACAGTCTTCCTGGA	0.318																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1453-1455)Gtc>Ttc		anoctamin 3							82.0	84.0	83.0					11																	26619917		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26619917G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1453G>T	11.37:g.26619917G>T	ENSP00000256737:p.Val485Phe					ANO3_ENST00000537978.1_Missense_Mutation_p.V469F|ANO3_ENST00000525139.1_Missense_Mutation_p.V469F|ANO3_ENST00000531568.1_Missense_Mutation_p.V339F	p.V485F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			15	2305	+			485					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1453G>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723830	0.68959	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	L	0.45137	1.4	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.73708	0.981;0.667	T	0.72659	-0.4226	10	0.45353	T	0.12	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	387;485	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	F	469;469;485;387;339	ENSP00000440737:V469F;ENSP00000432576:V469F;ENSP00000256737:V485F;ENSP00000432394:V339F	ENSP00000256737:V485F	V	+	1	0	ANO3	26576493	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GTC		0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		74	350	1	0	2.6465e-34	1	3.14731e-34	74	350				
IL21R	50615	broad.mit.edu	37	16	27460438	27460438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27460438G>A	ENST00000337929.3	+	9	1924	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	IL21R_ENST00000395755.1_Missense_Mutation_p.G484D|IL21R_ENST00000395754.4_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	484			G -> S (in dbSNP:rs3093386). {ECO:0000269|Ref.4}.		interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCCTGGCCGGCCTGGATATG	0.677			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1450-1452)gGc>gAc		interleukin 21 receptor							42.0	39.0	40.0					16																	27460438		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460438G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1451G>A	16.37:g.27460438G>A	ENSP00000338010:p.Gly484Asp					IL21R_ENST00000395755.1_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D|IL21R_ENST00000395754.4_Missense_Mutation_p.G484D	p.G484D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1924	+			484		G -> S (in dbSNP:rs3093386).			A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1451G>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359155	0.61403	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.15372	2.43;2.43;2.43	4.9	3.93	0.45458	.	0.231408	0.37437	N	0.002082	T	0.28400	0.0702	M	0.63428	1.95	0.34257	D	0.67947	D	0.57571	0.98	P	0.53649	0.731	T	0.43940	-0.9360	10	0.49607	T	0.09	-30.5288	10.9479	0.47312	0.0:0.2238:0.7762:0.0	.	484	Q9HBE5	IL21R_HUMAN	D	484	ENSP00000338010:G484D;ENSP00000379104:G484D;ENSP00000379103:G484D	ENSP00000338010:G484D	G	+	2	0	IL21R	27367939	0.954000	0.32549	0.979000	0.43373	0.803000	0.45373	2.135000	0.42112	1.013000	0.39391	0.561000	0.74099	GGC		0.677	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		34	340	0	0	0	1	0	34	340				
EML2	24139	broad.mit.edu	37	19	46124788	46124788	+	Missense_Mutation	SNP	G	G	A	rs535561853		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46124788G>A	ENST00000245925.3	-	10	999	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	EML2_ENST00000587152.1_Missense_Mutation_p.R518W|EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000536630.1_Missense_Mutation_p.R464W|EML2_ENST00000586902.1_5'Flank	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	317	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGACCACCCGCCGATCACGG	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13361	0.0		0.0	False		,,,				2504	0.0					ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1390-1392)Cgg>Tgg		echinoderm microtubule associated protein like 2							45.0	47.0	46.0					19																	46124788		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124788G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.949C>T	19.37:g.46124788G>A	ENSP00000245925:p.Arg317Trp					EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000245925.3_Missense_Mutation_p.R317W|EML2_ENST00000587152.1_Missense_Mutation_p.R518W	p.R464W	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	13	1528	-		Ovarian(192;0.179)|all_neural(266;0.224)	317					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1390C>T	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164803	0.57476	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.41758	0.99;0.99;4.95	3.2	0.782	0.18567	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.138361	0.45361	D	0.000373	T	0.56441	0.1985	M	0.65975	2.015	0.36928	D	0.891741	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.989;0.971;0.985	T	0.59794	-0.7387	10	0.62326	D	0.03	-16.0349	8.6541	0.34053	0.0:0.0:0.4052:0.5948	.	317;483;464;317	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	W	464;317;475	ENSP00000442365:R464W;ENSP00000245925:R317W;ENSP00000382503:R475W	ENSP00000245925:R317W	R	-	1	2	EML2	50816628	0.012000	0.17670	0.965000	0.40720	0.891000	0.51852	0.382000	0.20635	0.042000	0.15717	0.195000	0.17529	CGG		0.687	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		91	329	0	0	0	1	0	91	329				
MED12	9968	broad.mit.edu	37	X	70348222	70348222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70348222C>A	ENST00000374080.3	+	23	3318	c.3286C>A	c.(3286-3288)Ctt>Att	p.L1096I	MED12_ENST00000333646.6_Missense_Mutation_p.L1096I|MED12_ENST00000374102.1_Missense_Mutation_p.L1096I			Q93074	MED12_HUMAN	mediator complex subunit 12	1096					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTAGGAGTGCTTAAGGCCTT	0.507			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3286-3288)Ctt>Att		mediator complex subunit 12							122.0	115.0	117.0					X																	70348222		2134	4235	6369	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70348222C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3286C>A	X.37:g.70348222C>A	ENSP00000363193:p.Leu1096Ile					MED12_ENST00000374102.1_Missense_Mutation_p.L1096I|MED12_ENST00000374080.3_Missense_Mutation_p.L1096I	p.L1096I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			23	3485	+	Renal(35;0.156)		1096					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3286C>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.291488	0.80914	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.53561	1.675	0.80722	D	1	D;D;P;D	0.65815	0.995;0.988;0.815;0.98	P;P;P;P	0.62435	0.902;0.885;0.551;0.881	T	0.58923	-0.7550	10	0.49607	T	0.09	-12.9991	17.1584	0.86797	0.0:1.0:0.0:0.0	.	1096;943;1096;1096	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	I	1096;1096;1096;1096;1064	ENSP00000333125:L1096I;ENSP00000363215:L1096I;ENSP00000363193:L1096I;ENSP00000414203:L1064I	ENSP00000333125:L1096I	L	+	1	0	MED12	70264947	1.000000	0.71417	0.156000	0.22583	0.994000	0.84299	7.100000	0.76989	2.318000	0.78349	0.597000	0.82753	CTT		0.507	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		160	461	1	0	5.55526e-70	1	7.05424e-70	160	461				
DNM1P46	196968	broad.mit.edu	37	15	100339937	100339937	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100339937G>A	ENST00000341853.1	-	0	989					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CGTGGTGCATGCGCAGCATCT	0.622																																						ENST00000341853.1																			0																				44.0	40.0	41.0					15																	100339937		876	1991	2867			0							g.chr15:100339937G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339937G>A								NR_003260.1						0	989	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.622	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		42	177	0	0	0	1	0	42	177				
WNK2	65268	broad.mit.edu	37	9	96061420	96061420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96061420G>A	ENST00000297954.4	+	25	6103	c.6103G>A	c.(6103-6105)Gca>Aca	p.A2035T	WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T|WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2035					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGGCTCACTGCAGACAGCAC	0.672																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6103-6105)Gca>Aca		WNK lysine deficient protein kinase 2							29.0	29.0	29.0					9																	96061420		2199	4293	6492	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96061420G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6103G>A	9.37:g.96061420G>A	ENSP00000297954:p.Ala2035Thr					WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T	p.A2035T			Q9Y3S1	WNK2_HUMAN			25	6103	+			2035					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6103G>A		.	.	.	.	.	.	.	.	.	.	G	12.05	1.821450	0.32237	.	.	ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	T;T;T;T	0.71579	-0.58;-0.57;0.04;0.04	4.1	4.1	0.47936	.	0.360403	0.29515	N	0.011924	T	0.79299	0.4422	L	0.53249	1.67	0.26252	N	0.978704	D;D;D;D	0.63880	0.991;0.993;0.988;0.993	P;D;D;D	0.77557	0.641;0.977;0.99;0.956	T	0.70684	-0.4804	10	0.54805	T	0.06	.	12.3721	0.55260	0.0:0.0:0.7483:0.2517	.	1998;1993;1998;2035	Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	T	2035;1998;1647;1610	ENSP00000297954:A2035T;ENSP00000378860:A1998T;ENSP00000297876:A1647T;ENSP00000411181:A1610T	ENSP00000297954:A2035T	A	+	1	0	WNK2	95101241	0.082000	0.21442	0.263000	0.24496	0.584000	0.36387	1.764000	0.38471	1.841000	0.53522	0.655000	0.94253	GCA		0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		20	155	0	0	0	1	0	20	155				
MDN1	23195	broad.mit.edu	37	6	90513085	90513085	+	Silent	SNP	C	C	T	rs143953044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90513085C>T	ENST00000369393.3	-	2	406	c.291G>A	c.(289-291)tcG>tcA	p.S97S	MDN1_ENST00000428876.1_Silent_p.S97S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	97					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGCTCATCGACACACATA	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0					ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(289-291)tcG>tcA		MDN1, midasin homolog (yeast)		C		4,4402	8.1+/-20.4	0,4,2199	278.0	243.0	255.0		291	-9.6	0.8	6	dbSNP_134	255	0,8600		0,0,4300	no	coding-synonymous	MDN1	NM_014611.1		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		97/5597	90513085	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90513085C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.291G>A	6.37:g.90513085C>T						MDN1_ENST00000428876.1_Silent_p.S97S	p.S97S			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	2	406	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	97					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.291G>A	CCDS5024.1																																																																																				0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			124	629	0	0	0	1	0	124	629				
GRHL2	79977	broad.mit.edu	37	8	102589658	102589658	+	Missense_Mutation	SNP	G	G	A	rs376663921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102589658G>A	ENST00000251808.3	+	7	1252	c.914G>A	c.(913-915)aGt>aAt	p.S305N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	305					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GTGGTCTTCAGTGAAGACAAA	0.488																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(913-915)aGt>aAt		grainyhead-like 2 (Drosophila)							125.0	106.0	112.0					8																	102589658		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102589658G>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.914G>A	8.37:g.102589658G>A	ENSP00000251808:p.Ser305Asn					GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	p.S305N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		7	1252	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		305					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.914G>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185364	0.94885	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.17370	2.28;2.28	5.35	5.35	0.76521	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.40543	1.245	0.80722	D	1	P	0.35139	0.486	P	0.45538	0.484	T	0.01401	-1.1364	10	0.45353	T	0.12	-17.3025	19.4438	0.94838	0.0:0.0:1.0:0.0	.	305	Q6ISB3	GRHL2_HUMAN	N	305;289;305	ENSP00000251808:S305N;ENSP00000379260:S289N	ENSP00000251808:S305N	S	+	2	0	GRHL2	102658834	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.954000	0.87848	2.655000	0.90218	0.655000	0.94253	AGT		0.488	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		32	143	0	0	0	1	0	32	143				
TOPBP1	11073	broad.mit.edu	37	3	133341974	133341974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133341974C>T	ENST00000260810.5	-	19	3270	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1047					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGATGGTGCTGACTCTTTA	0.274								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(3139-3141)Gca>Aca	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							43.0	39.0	40.0					3																	133341974		1803	4060	5863	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133341974C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3139G>A	3.37:g.133341974C>T	ENSP00000260810:p.Ala1047Thr						p.A1047T	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			19	3270	-			1047					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.3139G>A	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	0.731	-0.779765	0.02929	.	.	ENSG00000163781	ENST00000260810	T	0.11495	2.77	5.6	2.83	0.33086	.	0.688503	0.15591	N	0.254401	T	0.08537	0.0212	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.43718	-0.9374	10	0.12430	T	0.62	.	6.0027	0.19529	0.0:0.6363:0.1375:0.2262	.	960;1047	A0AV47;Q92547	.;TOPB1_HUMAN	T	1047	ENSP00000260810:A1047T	ENSP00000260810:A1047T	A	-	1	0	TOPBP1	134824664	0.000000	0.05858	0.014000	0.15608	0.030000	0.12068	0.298000	0.19120	0.300000	0.22699	0.650000	0.86243	GCA		0.274	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		23	179	0	0	0	1	0	23	179				
PPP3CC	5533	broad.mit.edu	37	8	22355569	22355569	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22355569T>G	ENST00000240139.5	+	4	755	c.428T>G	c.(427-429)cTt>cGt	p.L143R	PPP3CC_ENST00000397775.3_Missense_Mutation_p.L143R|PPP3CC_ENST00000289963.8_Missense_Mutation_p.L143R|PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	143					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTGTTTCTGCTTCGGGGAAAT	0.333																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(427-429)cTt>cGt		protein phosphatase 3, catalytic subunit, gamma isozyme							140.0	130.0	133.0					8																	22355569		2203	4300	6503	SO:0001583	missense	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22355569T>G		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.428T>G	8.37:g.22355569T>G	ENSP00000240139:p.Leu143Arg					PPP3CC_ENST00000397775.3_Missense_Mutation_p.L143R|PPP3CC_ENST00000289963.8_Missense_Mutation_p.L143R|PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R	p.L143R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	4	755	+		Prostate(55;0.104)	143					B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	c.428T>G	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.666485|4.666485	0.88251|0.88251	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775	.|T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	.|0.058467	.|0.64402	.|D	.|0.000002	T|T	0.58680|0.58680	0.2139|0.2139	H|H	0.99956|0.99956	5.05|5.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.994;0.997;0.994	T|T	0.80377|0.80377	-0.1408|-0.1408	5|10	.|0.87932	.|D	.|0	-11.9987|-11.9987	15.3614|15.3614	0.74478|0.74478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|143;143;143;143	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	V|R	20|143	.|ENSP00000429379:L143R;ENSP00000240139:L143R;ENSP00000289963:L143R;ENSP00000380878:L143R	.|ENSP00000240139:L143R	F|L	+|+	1|2	0|0	PPP3CC|PPP3CC	22411514|22411514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.687000|7.687000	0.84139|0.84139	2.267000|2.267000	0.75376|0.75376	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.333	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		7	321	0	0	0	1	0	7	321				
FUZ	80199	broad.mit.edu	37	19	50314697	50314697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50314697G>T	ENST00000313777.4	-	5	578	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	FUZ_ENST00000445575.2_Missense_Mutation_p.L139M|FUZ_ENST00000533418.1_Missense_Mutation_p.L89M|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000526575.1_3'UTR|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	139					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GAGTCCCCCAGGAAGCTGTCG	0.582																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(415-417)Ctg>Atg		fuzzy planar cell polarity protein							62.0	55.0	58.0					19																	50314697		2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50314697G>T	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.415C>A	19.37:g.50314697G>T	ENSP00000313309:p.Leu139Met					FUZ_ENST00000533418.1_Missense_Mutation_p.L89M|FUZ_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000445575.2_Missense_Mutation_p.L139M	p.L139M	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	5	578	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	139					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.415C>A	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416090	0.62511	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.21	4.21	0.49690	.	0.296424	0.27345	N	0.019797	T	0.61110	0.2321	L	0.31926	0.97	0.44155	D	0.996958	D;D;D	0.89917	0.999;1.0;0.984	D;D;D	0.91635	0.998;0.999;0.926	T	0.63301	-0.6668	10	0.54805	T	0.06	-11.0072	13.5847	0.61924	0.0:0.0:1.0:0.0	.	139;103;139	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	M	103;89;139;139;39;139;89;139	ENSP00000435177:L103M;ENSP00000431731:L89M;ENSP00000313309:L139M;ENSP00000408018:L139M	ENSP00000313309:L139M	L	-	1	2	FUZ	55006509	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.832000	0.62759	2.171000	0.68590	0.462000	0.41574	CTG		0.582	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		9	232	1	0	0.000274275	1	0.000278163	9	232				
MEGF10	84466	broad.mit.edu	37	5	126674903	126674903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126674903A>G	ENST00000274473.6	+	4	475	c.208A>G	c.(208-210)Acg>Gcg	p.T70A	MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A|MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A|MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	70	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTTTAAATGCACGCGGCACAG	0.413																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(208-210)Acg>Gcg		multiple EGF-like-domains 10							110.0	96.0	101.0					5																	126674903		2203	4299	6502	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126674903A>G	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.208A>G	5.37:g.126674903A>G	ENSP00000274473:p.Thr70Ala					MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A|MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A|MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A	p.T70A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	4	475	+		Prostate(80;0.165)	70			EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.208A>G	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619901	0.87460	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.80304	-1.36;2.6;2.6;-1.36	5.91	5.91	0.95273	EMI domain (1);	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	L	0.40543	1.245	0.80722	D	1	P;D	0.57571	0.875;0.98	P;D	0.64595	0.729;0.927	T	0.80178	-0.1490	10	0.19147	T	0.46	-9.5407	15.3262	0.74164	1.0:0.0:0.0:0.0	.	70;70	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	A	70	ENSP00000423354:T70A;ENSP00000423195:T70A;ENSP00000416284:T70A;ENSP00000274473:T70A	ENSP00000274473:T70A	T	+	1	0	MEGF10	126702802	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	9.165000	0.94761	2.269000	0.75478	0.533000	0.62120	ACG		0.413	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		76	326	0	0	0	1	0	76	326				
MRPS34	65993	broad.mit.edu	37	16	1822318	1822318	+	Missense_Mutation	SNP	C	C	A	rs368249423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1822318C>A	ENST00000397375.2	-	3	596	c.561G>T	c.(559-561)gaG>gaT	p.E187D	EME2_ENST00000307394.7_5'Flank|EME2_ENST00000568449.1_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.E194D	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	187						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						GCATGGGCTCCTCGGTGCTTG	0.592																																						ENST00000177742.3																			0				breast(1)|skin(2)	3						c.(580-582)gaG>gaT		mitochondrial ribosomal protein S34							122.0	101.0	108.0					16																	1822318		2196	4299	6495	SO:0001583	missense	65993					mitochondrion|ribosome	protein binding	g.chr16:1822318C>A	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"""Mitochondrial ribosomal proteins / small subunits"""	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.561G>T	16.37:g.1822318C>A	ENSP00000380531:p.Glu187Asp					MRPS34_ENST00000397375.2_Missense_Mutation_p.E187D	p.E194D			P82930	RT34_HUMAN			3	612	-			187					Q9BVI7	Missense_Mutation	SNP	ENST00000397375.2	37	c.582G>T	CCDS10444.1	.	.	.	.	.	.	.	.	.	.	C	8.419	0.846007	0.16963	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.35236	1.32;1.32	4.31	2.18	0.27775	.	0.734279	0.13004	N	0.421381	T	0.25717	0.0626	L	0.43152	1.355	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.13710	-1.0499	10	0.38643	T	0.18	-24.4263	3.2935	0.06957	0.3427:0.4531:0.0:0.2042	.	194;187	C9JJ19;P82930	.;RT34_HUMAN	D	187;194	ENSP00000380531:E187D;ENSP00000177742:E194D	ENSP00000177742:E194D	E	-	3	2	MRPS34	1762319	0.999000	0.42202	0.928000	0.36995	0.025000	0.11179	0.828000	0.27435	0.812000	0.34326	-0.258000	0.10820	GAG		0.592	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	NM_023936		98	440	1	0	1.37074e-43	1	1.67417e-43	98	440				
ZDHHC1	29800	broad.mit.edu	37	16	67432784	67432784	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432784T>C	ENST00000348579.2	-	6	935	c.594A>G	c.(592-594)acA>acG	p.T198T	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	198					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGAAGACATATGTGGCCACCA	0.587																																						ENST00000348579.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(592-594)acA>acG		zinc finger, DHHC-type containing 1							84.0	77.0	79.0					16																	67432784		2198	4300	6498	SO:0001819	synonymous_variant	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67432784T>C	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.594A>G	16.37:g.67432784T>C							p.T198T	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	6	935	-		Ovarian(137;0.223)	198					O15461	Silent	SNP	ENST00000348579.2	37	c.594A>G	CCDS10836.1																																																																																				0.587	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		14	100	0	0	0	1	0	14	100				
PTPRS	5802	broad.mit.edu	37	19	5244271	5244271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244271G>A	ENST00000587303.1	-	10	1310	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A405V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	404	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGAGTTGACGGCCGACACCCA	0.667																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1213-1215)gCc>gTc		protein tyrosine phosphatase, receptor type, S							56.0	49.0	52.0					19																	5244271		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244271G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1211C>T	19.37:g.5244271G>A	ENSP00000467537:p.Ala404Val					PTPRS_ENST00000587303.1_Missense_Mutation_p.A404V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V	p.A405V			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1447	-			404			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1214C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573156	0.65765	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	3.93	2.89	0.33648	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000004	D	0.85314	0.5668	H	0.95679	3.705	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.999;0.994;0.999;1.0;0.996	D;D;D;D;D;D	0.97110	0.99;0.983;0.95;0.969;1.0;0.935	D	0.87772	0.2606	10	0.87932	D	0	.	11.3321	0.49482	0.0894:0.0:0.9106:0.0	.	404;391;395;391;404;417	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	417;405;404;404;404;400;391;404;395;391	ENSP00000361489:A405V;ENSP00000349932:A404V;ENSP00000262963:A400V;ENSP00000269907:A391V;ENSP00000327313:A391V	ENSP00000262963:A400V	A	-	2	0	PTPRS	5195271	1.000000	0.71417	0.274000	0.24659	0.419000	0.31324	9.517000	0.98020	0.888000	0.36160	0.462000	0.41574	GCC		0.667	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			37	300	0	0	0	1	0	37	300				
FAM175A	84142	broad.mit.edu	37	4	84391390	84391390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84391390G>A	ENST00000321945.7	-	5	550	c.442C>T	c.(442-444)Cga>Tga	p.R148*	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	148					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGTTCCAGTCGATGAGTAGAG	0.348																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(442-444)Cga>Tga		family with sequence similarity 175, member A							78.0	82.0	81.0					4																	84391390		2203	4300	6503	SO:0001587	stop_gained	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84391390G>A	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.442C>T	4.37:g.84391390G>A	ENSP00000369857:p.Arg148*					FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*|FAM175A_ENST00000505489.1_5'UTR	p.R148*	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			5	550	-			148					A5JJ07|Q9H8I1|Q9H9N4	Nonsense_Mutation	SNP	ENST00000321945.7	37	c.442C>T	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	37	6.046630	0.97231	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	.	.	.	5.9	2.86	0.33363	.	0.168866	0.49916	D	0.000136	.	.	.	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2989	9.8395	0.40991	0.0788:0.0:0.6061:0.315	.	.	.	.	X	148;99;99	.	ENSP00000369857:R148X	R	-	1	2	FAM175A	84610414	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.988000	0.40697	0.777000	0.33496	0.563000	0.77884	CGA		0.348	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		104	392	0	0	0	1	0	104	392				
DNAH3	55567	broad.mit.edu	37	16	20975642	20975642	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975642C>A	ENST00000261383.3	-	53	9563	c.9564G>T	c.(9562-9564)aaG>aaT	p.K3188N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3188	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAGACAGACCTTCACGGCAA	0.473																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9562-9564)aaG>aaT		dynein, axonemal, heavy chain 3							88.0	86.0	86.0					16																	20975642		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975642C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9564G>T	16.37:g.20975642C>A	ENSP00000261383:p.Lys3188Asn					DNAH3_ENST00000415178.1_3'UTR	p.K3188N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9563	-			3188			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9564G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858220	0.51376	.	.	ENSG00000158486	ENST00000261383	T	0.22743	1.94	6.03	-0.0983	0.13629	.	0.112712	0.64402	D	0.000012	T	0.55386	0.1917	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64605	-0.6368	10	0.87932	D	0	.	10.7353	0.46122	0.0:0.3047:0.0:0.6953	.	3188	Q8TD57	DYH3_HUMAN	N	3188	ENSP00000261383:K3188N	ENSP00000261383:K3188N	K	-	3	2	DNAH3	20883143	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.073000	0.30691	-0.046000	0.13446	-0.294000	0.09567	AAG		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		122	388	1	0	1.45418e-49	1	1.79884e-49	122	388				
C5orf42	65250	broad.mit.edu	37	5	37138820	37138820	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37138820A>G	ENST00000508244.1	-	44	8724		c.e44+1		C5orf42_ENST00000425232.2_Splice_Site|C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000274258.7_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAATGATTACCTGGAGGTG	0.308																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.e45+1		chromosome 5 open reading frame 42							118.0	123.0	122.0					5																	37138820		2203	4300	6503	SO:0001630	splice_region_variant	65250							g.chr5:37138820A>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8630+1T>C	5.37:g.37138820A>G						C5orf42_ENST00000508244.1_Splice_Site|C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site				E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		45	8912	-	all_lung(31;0.000616)							A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Splice_Site	SNP	ENST00000508244.1	37		CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387604	0.42308	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1914	0.59713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf42	37174577	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.857000	0.62939	2.112000	0.64535	0.533000	0.62120	.		0.308	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	Intron	33	441	0	0	0	1	0	33	441				
CASR	846	broad.mit.edu	37	3	121980530	121980530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980530C>T	ENST00000490131.1	+	4	1020	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_ENST00000296154.5_Silent_p.D216D|CASR_ENST00000498619.1_Silent_p.D216D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	216					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D216D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537																																						ENST00000498619.1																			1	Substitution - coding silent(1)	p.D216D(1)	endometrium(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(646-648)gaC>gaT		calcium-sensing receptor	Cinacalcet(DB01012)						125.0	134.0	131.0					3																	121980530		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980530C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.648C>T	3.37:g.121980530C>T						CASR_ENST00000296154.5_Silent_p.D216D|CASR_ENST00000490131.1_Silent_p.D216D	p.D216D	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1086	+			216					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.648C>T	CCDS3010.1																																																																																				0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		164	718	0	0	0	1	0	164	718				
GPR123	84435	broad.mit.edu	37	10	134893885	134893885	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134893885C>A	ENST00000607359.1	+	4	830	c.830C>A	c.(829-831)gCt>gAt	p.A277D				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	332					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCTCCAGGGCTGTGGGTAAG	0.682																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(829-831)gCt>gAt		G protein-coupled receptor 123							18.0	20.0	20.0					10																	134893885		1561	3569	5130	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134893885C>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.830C>A	10.37:g.134893885C>A	ENSP00000475778:p.Ala277Asp						p.A277D			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	4	830	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	329					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	37	c.830C>A		.	.	.	.	.	.	.	.	.	.	C	5.021	0.189542	0.09547	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.4	1.4	0.22301	.	11.497300	0.01412	U	0.014053	T	0.26159	0.0638	.	.	.	0.31640	N	0.64811	P	0.40302	0.712	B	0.32928	0.155	T	0.35276	-0.9795	7	0.87932	D	0	.	6.2115	0.20631	0.0:1.0:0.0:0.0	.	277	Q86SQ6-1	.	D	277	.	ENSP00000357566:A277D	A	+	2	0	GPR123	134743875	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	-0.059000	0.11731	1.079000	0.41038	0.460000	0.39030	GCT		0.682	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			10	22	1	0	2.80697e-09	1	2.95087e-09	10	22				
EGFR	1956	broad.mit.edu	37	7	55240761	55240761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240761C>T	ENST00000275493.2	+	17	2182	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	669					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R669*(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCTCTTCATGCGAAGGCGCCA	0.667		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Nonsense(1)	p.R669*(1)	endometrium(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2005-2007)Cga>Tga		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						79.0	72.0	75.0					7																	55240761		2203	4300	6503	SO:0001587	stop_gained	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240761C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2005C>T	7.37:g.55240761C>T	ENSP00000275493:p.Arg669*	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*|EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*	p.R669*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2182	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		669					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	c.2005C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	41	8.579219	0.98870	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	.	.	.	5.96	1.75	0.24633	.	0.048957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2219	0.43203	0.4977:0.3801:0.1222:0.0	.	.	.	.	X	624;539;669;616;463	.	ENSP00000275493:R669X	R	+	1	2	EGFR	55208255	1.000000	0.71417	0.677000	0.29947	0.924000	0.55760	1.702000	0.37836	0.348000	0.23949	0.655000	0.94253	CGA		0.667	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		73	356	0	0	0	1	0	73	356				
CHRM3	1131	broad.mit.edu	37	1	240070910	240070910	+	Silent	SNP	C	C	T	rs149077005	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070910C>T	ENST00000255380.4	+	5	938	c.159C>T	c.(157-159)gaC>gaT	p.D53D		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	53					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCTCCAGACGGTACCACCG	0.572													C|||	4	0.000798722	0.003	0.0	5008	,	,		18693	0.0		0.0	False		,,,				2504	0.0					ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(157-159)gaC>gaT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	C		11,4395	17.9+/-39.9	0,11,2192	96.0	91.0	93.0		159	-3.0	0.0	1	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	CHRM3	NM_000740.2		0,11,6492	TT,TC,CC		0.0,0.2497,0.0846		53/591	240070910	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070910C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.159C>T	1.37:g.240070910C>T							p.D53D	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	938	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	53					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.159C>T	CCDS1616.1																																																																																				0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		107	404	0	0	0	1	0	107	404				
NUP160	23279	broad.mit.edu	37	11	47806599	47806599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47806599A>G	ENST00000378460.2	-	33	3911	c.3865T>C	c.(3865-3867)Tgg>Cgg	p.W1289R	NUP160_ENST00000530326.1_Missense_Mutation_p.W1175R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1289					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AATAGTCGCCATGCTTCATCT	0.378																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(3865-3867)Tgg>Cgg		nucleoporin 160kDa							122.0	106.0	111.0					11																	47806599		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47806599A>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3865T>C	11.37:g.47806599A>G	ENSP00000367721:p.Trp1289Arg					NUP160_ENST00000530326.1_Missense_Mutation_p.W1175R	p.W1289R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			33	3911	-			1289					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.3865T>C	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379224	0.82682	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.78481	0.06;-1.18	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90491	0.4467	10	0.87932	D	0	.	16.2364	0.82377	1.0:0.0:0.0:0.0	.	1289	Q12769	NU160_HUMAN	R	1289;1175	ENSP00000367721:W1289R;ENSP00000433590:W1175R	ENSP00000367721:W1289R	W	-	1	0	NUP160	47763175	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	8.414000	0.90238	2.238000	0.73509	0.477000	0.44152	TGG		0.378	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		7	334	0	0	0	1	0	7	334				
ZNF184	7738	broad.mit.edu	37	6	27425127	27425127	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27425127T>C	ENST00000211936.6	-	4	421	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGCCAGGGTCCAGCTGTTT	0.413																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(136-138)gAc>gGc		zinc finger protein 184							125.0	123.0	124.0					6																	27425127		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27425127T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.137A>G	6.37:g.27425127T>C	ENSP00000211936:p.Asp46Gly					ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	p.D46G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			4	421	-			46			KRAB.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.137A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044500	0.55110	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.02606	4.23;4.23	4.69	3.5	0.40072	Krueppel-associated box (4);	0.000000	0.49305	D	0.000141	T	0.01627	0.0052	M	0.62209	1.925	0.37121	D	0.900818	B	0.15141	0.012	B	0.20577	0.03	T	0.34279	-0.9835	10	0.37606	T	0.19	.	9.0704	0.36488	0.1703:0.0:0.0:0.8297	.	46	Q99676	ZN184_HUMAN	G	46	ENSP00000211936:D46G;ENSP00000366636:D46G	ENSP00000211936:D46G	D	-	2	0	ZNF184	27533106	0.981000	0.34729	0.984000	0.44739	0.993000	0.82548	2.128000	0.42045	1.079000	0.41038	0.533000	0.62120	GAC		0.413	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		110	428	0	0	0	1	0	110	428				
SCNN1D	6339	broad.mit.edu	37	1	1222152	1222152	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1222152A>G	ENST00000338555.2	+	5	1568	c.424A>G	c.(424-426)Agt>Ggt	p.S142G	SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	142					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCAGGCCGAGTCCGGTCCT	0.657																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(424-426)Agt>Ggt		sodium channel, non-voltage-gated 1, delta subunit							27.0	31.0	30.0					1																	1222152		2190	4290	6480	SO:0001583	missense	6339							g.chr1:1222152A>G	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.424A>G	1.37:g.1222152A>G	ENSP00000339504:p.Ser142Gly					SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G|SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G	p.S142G						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	5	1568	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.424A>G		.	.	.	.	.	.	.	.	.	.	A	11.32	1.604653	0.28623	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	3.55	-3.62	0.04543	.	4.620690	0.00508	N	0.000170	T	0.62344	0.2420	M	0.67700	2.07	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.18263	0.021;0.001	T	0.49753	-0.8906	10	0.62326	D	0.03	.	4.761	0.13108	0.3933:0.2998:0.3069:0.0	.	142;306	P51172;A6NNF7	SCNND_HUMAN;.	G	173;306;142;208;142	ENSP00000368411:S306G;ENSP00000339504:S142G;ENSP00000321594:S208G;ENSP00000383717:S142G	ENSP00000321594:S208G	S	+	1	0	SCNN1D	1212015	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.332000	0.07904	-0.461000	0.06993	0.260000	0.18958	AGT		0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		39	170	0	0	0	1	0	39	170				
ZFP69	339559	broad.mit.edu	37	1	40961257	40961257	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40961257C>T	ENST00000372706.1	+	6	2113	c.1107C>T	c.(1105-1107)agC>agT	p.S369S	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.S369S			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGAACATTAGCTTGGTTCAAC	0.388																																						ENST00000372706.1																			0											c.(1105-1107)agC>agT		ZFP69 zinc finger protein							86.0	87.0	87.0					1																	40961257		2203	4300	6503	SO:0001819	synonymous_variant	339559							g.chr1:40961257C>T	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1107C>T	1.37:g.40961257C>T						ZFP69_ENST00000372705.3_Silent_p.S369S|RP11-656D10.3_ENST00000450713.1_RNA	p.S369S							6	2113	+								Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.1107C>T	CCDS30686.1																																																																																				0.388	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		35	379	0	0	0	1	0	35	379				
IGKV2D-29	28882	broad.mit.edu	37	2	89986947	89986947	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:89986947T>G	ENST00000491977.1	+	0	258									immunoglobulin kappa variable 2D-29																		TCTATGAAGTTTCCAACCGGT	0.532																																						ENST00000491977.1																			0																				37.0	52.0	47.0					2																	89986947		1801	4082	5883			0							g.chr2:89986947T>G	M31952		2p11.2	2012-02-08			ENSG00000243264	ENSG00000243264		"""Immunoglobulins / IGK locus"""	5800	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151619		2.37:g.89986947T>G														0	258	+									RNA	SNP	ENST00000491977.1	37																																																																																						0.532	IGKV2D-29-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323291.1	NG_000833		88	387	0	0	0	1	0	88	387				
ZNF429	353088	broad.mit.edu	37	19	21719209	21719209	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21719209A>C	ENST00000358491.4	+	4	562	c.354A>C	c.(352-354)aaA>aaC	p.K118N	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGGCTATAAAACTGTAGGTG	0.343																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(352-354)aaA>aaC		zinc finger protein 429							72.0	75.0	74.0					19																	21719209		2123	4262	6385	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719209A>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.354A>C	19.37:g.21719209A>C	ENSP00000351280:p.Lys118Asn					ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	p.K118N	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	562	+			118					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.354A>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689066	0.29962	.	.	ENSG00000197013	ENST00000358491	T	0.07216	3.21	1.17	-0.284	0.12870	.	.	.	.	.	T	0.14874	0.0359	M	0.84948	2.725	0.09310	N	1	D	0.60575	0.988	P	0.49140	0.601	T	0.14200	-1.0481	9	0.56958	D	0.05	.	1.5337	0.02541	0.4502:0.0:0.2433:0.3065	.	118	Q86V71	ZN429_HUMAN	N	118	ENSP00000351280:K118N	ENSP00000351280:K118N	K	+	3	2	ZNF429	21511049	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	0.100000	0.15231	-0.287000	0.09064	0.248000	0.18094	AAA		0.343	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		35	201	0	0	0	1	0	35	201				
TNS3	64759	broad.mit.edu	37	7	47407968	47407968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47407968G>A	ENST00000398879.1	-	17	2641	c.2275C>T	c.(2275-2277)Cgg>Tgg	p.R759W	TNS3_ENST00000311160.9_Missense_Mutation_p.R759W|TNS3_ENST00000355730.3_Missense_Mutation_p.R519W			Q68CZ2	TENS3_HUMAN	tensin 3	759					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCACCTTGCCGCCCGGTGGCC	0.637																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2275-2277)Cgg>Tgg		tensin 3							95.0	107.0	103.0					7																	47407968		1974	4150	6124	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47407968G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2275C>T	7.37:g.47407968G>A	ENSP00000381854:p.Arg759Trp					TNS3_ENST00000355730.3_Missense_Mutation_p.R519W|TNS3_ENST00000311160.9_Missense_Mutation_p.R759W	p.R759W			Q68CZ2	TENS3_HUMAN			17	2641	-			759					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2275C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500644	0.64298	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94537	-3.02;-3.02;-3.45;-3.16	4.81	-7.87	0.01183	.	1.491510	0.04198	N	0.329518	D	0.89262	0.6665	L	0.29908	0.895	0.09310	N	0.999994	D	0.56968	0.978	P	0.44477	0.451	D	0.84734	0.0747	10	0.54805	T	0.06	-27.1163	8.7967	0.34883	0.0:0.1648:0.3765:0.4587	.	759	Q68CZ2	TENS3_HUMAN	W	759;869;759;519;215;862	ENSP00000312143:R759W;ENSP00000381854:R759W;ENSP00000347968:R519W;ENSP00000414358:R862W	ENSP00000312143:R759W	R	-	1	2	TNS3	47374493	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.728000	0.04925	-1.169000	0.02772	0.655000	0.94253	CGG		0.637	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		37	1190	0	0	0	1	0	37	1190				
ZNF37A	7587	broad.mit.edu	37	10	38406336	38406336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38406336G>T	ENST00000361085.5	+	7	602	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R86I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R86I(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACCAGTAGAAACTATTCA	0.308																																						ENST00000351773.3																			2	Substitution - Missense(2)	p.R86I(2)	large_intestine(2)	NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(256-258)aGa>aTa		zinc finger protein 37A							50.0	59.0	56.0					10																	38406336		2197	4281	6478	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406336G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.257G>T	10.37:g.38406336G>T	ENSP00000354377:p.Arg86Ile					ZNF37A_ENST00000361085.4_Missense_Mutation_p.R86I	p.R86I	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1087	+			86					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.257G>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	5.320	0.244418	0.10077	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.04	-0.00378	0.14025	.	.	.	.	.	T	0.07098	0.0180	L	0.42529	1.33	0.19775	N	0.999958	B	0.24618	0.107	B	0.22753	0.041	T	0.35325	-0.9793	9	0.44086	T	0.13	.	4.9987	0.14253	0.5084:0.0:0.4916:0.0	.	86	P17032	ZN37A_HUMAN	I	86	ENSP00000329141:R86I;ENSP00000354377:R86I	ENSP00000329141:R86I	R	+	2	0	ZNF37A	38446342	0.102000	0.21896	0.225000	0.23894	0.924000	0.55760	0.967000	0.29344	-0.154000	0.11118	0.591000	0.81541	AGA		0.308	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		65	313	1	0	8.52622e-23	1	9.66497e-23	65	313				
SERPINB4	6318	broad.mit.edu	37	18	61305075	61305075	+	Missense_Mutation	SNP	C	C	T	rs386804122		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61305075C>T	ENST00000341074.5	-	8	1166	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	351					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATTCGACTACTACTACAGCG	0.463																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1051-1053)Gta>Ata		serpin peptidase inhibitor, clade B (ovalbumin), member 4							117.0	112.0	114.0					18																	61305075		2203	4300	6503	SO:0001583	missense	6318							g.chr18:61305075C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1051G>A	18.37:g.61305075C>T	ENSP00000343445:p.Val351Ile					SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	p.V351I	NM_002974.2	NP_002965.1					8	1166	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.1051G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	c	4.557	0.103374	0.08731	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.82081	-1.57;-1.57	4.25	-8.49	0.00931	Serpin domain (3);	4.508830	0.01035	N	0.004211	T	0.57403	0.2051	N	0.04387	-0.21	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15484	0.013;0.013;0.013	T	0.61004	-0.7150	10	0.05351	T	0.99	.	7.6912	0.28569	0.0897:0.6499:0.0898:0.1706	.	351;351;330	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	I	351;299	ENSP00000343445:V351I;ENSP00000348795:V299I	ENSP00000343445:V351I	V	-	1	0	SERPINB4	59456055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.282000	0.00260	-2.173000	0.00773	-1.275000	0.01399	GTA		0.463	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		88	452	0	0	0	1	0	88	452				
GPR137B	7107	broad.mit.edu	37	1	236343188	236343188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236343188G>A	ENST00000366592.3	+	4	788	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	233						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GGGCTCCTCCGTGTGTCAAGT	0.552																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(697-699)Gtg>Atg		G protein-coupled receptor 137B							223.0	188.0	200.0					1																	236343188		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236343188G>A	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.697G>A	1.37:g.236343188G>A	ENSP00000355551:p.Val233Met					GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	p.V233M	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	788	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	233					Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.697G>A	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635166	0.67130	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162	T;T;T	0.52526	0.66;1.99;0.74	5.52	5.52	0.82312	.	0.055961	0.64402	D	0.000001	T	0.70168	0.3193	M	0.72118	2.19	0.43043	D	0.994631	B;D	0.89917	0.063;1.0	B;D	0.87578	0.019;0.998	T	0.72077	-0.4399	10	0.72032	D	0.01	-15.3153	19.8119	0.96549	0.0:0.0:1.0:0.0	.	96;233	Q5TAF1;O60478	.;G137B_HUMAN	M	233;142;232;15	ENSP00000355551:V233M;ENSP00000355550:V142M;ENSP00000401841:V15M	ENSP00000355550:V142M	V	+	1	0	GPR137B	234409811	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.482000	0.81143	2.756000	0.94617	0.563000	0.77884	GTG		0.552	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		193	622	0	0	0	1	0	193	622				
MAPKAPK5	8550	broad.mit.edu	37	12	112326328	112326328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112326328C>T	ENST00000551404.2	+	11	1114	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.Q336*			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	336					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TCACGCGGAACAGTTGGCCAA	0.493																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(1006-1008)Cag>Tag		mitogen-activated protein kinase-activated protein kinase 5							132.0	133.0	133.0					12																	112326328		1993	4186	6179	SO:0001587	stop_gained	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112326328C>T	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1006C>T	12.37:g.112326328C>T	ENSP00000449381:p.Gln336*					MAPKAPK5_ENST00000551404.2_Nonsense_Mutation_p.Q336*	p.Q336*	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			11	1762	+			336					B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Nonsense_Mutation	SNP	ENST00000551404.2	37	c.1006C>T	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	41	8.908057	0.98998	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	336;336;336;336;17	.	ENSP00000202788:Q336X	Q	+	1	0	MAPKAPK5	110810711	1.000000	0.71417	0.994000	0.49952	0.660000	0.38997	7.380000	0.79704	2.785000	0.95823	0.655000	0.94253	CAG		0.493	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		129	418	0	0	0	1	0	129	418				
TRIM4	89122	broad.mit.edu	37	7	99489912	99489912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99489912G>T	ENST00000355947.2	-	7	1506	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAGCGCTGTAGAAGGAGACAT	0.537																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(1375-1377)ttC>ttA		tripartite motif containing 4							146.0	141.0	143.0					7																	99489912		2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489912G>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1377C>A	7.37:g.99489912G>T	ENSP00000348216:p.Phe459Leu					TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	p.F459L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			7	1506	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	459			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.1377C>A	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609670	0.66558	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	D;D	0.89343	-2.5;-2.5	2.64	2.64	0.31445	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.92289	0.7554	M	0.90309	3.105	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.55087	0.656;0.768	D	0.91861	0.5499	9	0.87932	D	0	.	5.5083	0.16866	0.1527:0.0:0.8473:0.0	.	433;459	Q9C037-2;Q9C037	.;TRIM4_HUMAN	L	459;433;289	ENSP00000348216:F459L;ENSP00000275736:F433L	ENSP00000275736:F433L	F	-	3	2	TRIM4	99327848	1.000000	0.71417	0.919000	0.36401	0.878000	0.50629	1.115000	0.31209	1.806000	0.52798	0.655000	0.94253	TTC		0.537	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		183	796	1	0	3.08562e-96	1	3.96622e-96	183	796				
HIST1H2AE	3012	broad.mit.edu	37	6	26217493	26217493	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26217493T>G	ENST00000303910.2	+	1	329	c.291T>G	c.(289-291)ctT>ctG	p.L97L	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	97						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAAATAAGCTTCTAGGTCGCG	0.592																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(289-291)ctT>ctG		histone cluster 1, H2ae							79.0	77.0	78.0					6																	26217493		2203	4300	6503	SO:0001819	synonymous_variant	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217493T>G	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.291T>G	6.37:g.26217493T>G							p.L97L	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	329	+		all_hematologic(11;0.196)	97					P28001|Q76P63	Silent	SNP	ENST00000303910.2	37	c.291T>G	CCDS4595.1																																																																																				0.592	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		79	348	0	0	0	1	0	79	348				
TNFRSF11B	4982	broad.mit.edu	37	8	119936933	119936933	+	Missense_Mutation	SNP	G	G	A	rs145316984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119936933G>A	ENST00000297350.4	-	5	1264	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	296	Death 2.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCAAGCTACGAAGCTGCTCG	0.463																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(886-888)Cgt>Tgt		tumor necrosis factor receptor superfamily, member 11b		G	CYS/ARG	0,4406		0,0,2203	127.0	102.0	110.0		886	3.9	0.0	8	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF11B	NM_002546.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	296/402	119936933	1,13005	2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119936933G>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.886C>T	8.37:g.119936933G>A	ENSP00000297350:p.Arg296Cys						p.R296C	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		5	1264	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		296			Death 2.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.886C>T	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831937	0.32421	0.0	1.16E-4	ENSG00000164761	ENST00000297350	D	0.87179	-2.22	5.74	3.91	0.45181	Death (1);	1.391200	0.03735	N	0.254055	D	0.85444	0.5698	L	0.43152	1.355	0.09310	N	1	D	0.55172	0.97	P	0.47206	0.541	T	0.70691	-0.4802	9	.	.	.	-1.5943	4.7775	0.13187	0.0732:0.1069:0.4216:0.3984	.	296	O00300	TR11B_HUMAN	C	296	ENSP00000297350:R296C	.	R	-	1	0	TNFRSF11B	120006114	0.009000	0.17119	0.003000	0.11579	0.624000	0.37722	1.152000	0.31663	0.840000	0.34995	0.563000	0.77884	CGT		0.463	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			70	246	0	0	0	1	0	70	246				
TMEM246	84302	broad.mit.edu	37	9	104238223	104238223	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104238223G>A	ENST00000374851.1	-	4	2299	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.L384L|TMEM246_ENST00000374847.1_Silent_p.L384L|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	384						integral component of membrane (GO:0016021)											TGTGTTTCACGAGGTTCGGCT	0.542																																						ENST00000374851.1																			0											c.(1150-1152)ctC>ctT		transmembrane protein 246							100.0	95.0	97.0					9																	104238223		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238223G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1152C>T	9.37:g.104238223G>A						RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Silent_p.L384L|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.L384L	p.L384L			Q9BRR3	CI125_HUMAN			4	2299	-			384					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.1152C>T	CCDS6757.1																																																																																				0.542	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		58	314	0	0	0	1	0	58	314				
NCKAP5	344148	broad.mit.edu	37	2	133542171	133542171	+	Missense_Mutation	SNP	T	T	C	rs146403790	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133542171T>C	ENST00000409261.1	-	14	2586	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	738										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCTCAGTGTCCTCTTCAGA	0.428																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(2212-2214)gAc>gGc		NCK-associated protein 5							68.0	64.0	65.0					2																	133542171		1848	4118	5966	SO:0001583	missense	344148						protein binding	g.chr2:133542171T>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2213A>G	2.37:g.133542171T>C	ENSP00000387128:p.Asp738Gly					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G	p.D738G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2586	-			738					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2213A>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	10.92	1.488547	0.26686	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.41400	1.0;1.0	5.2	4.05	0.47172	.	0.384947	0.18415	U	0.141921	T	0.21674	0.0522	N	0.08118	0	0.20074	N	0.999938	B	0.09022	0.002	B	0.06405	0.002	T	0.13176	-1.0519	10	0.38643	T	0.18	.	7.783	0.29077	0.0:0.1607:0.0:0.8393	.	738	O14513	NCKP5_HUMAN	G	738	ENSP00000387128:D738G;ENSP00000380603:D738G	ENSP00000380603:D738G	D	-	2	0	NCKAP5	133258641	0.966000	0.33281	0.285000	0.24819	0.962000	0.63368	1.727000	0.38095	1.017000	0.39495	0.529000	0.55759	GAC		0.428	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		16	304	0	0	0	1	0	16	304				
SEC31A	22872	broad.mit.edu	37	4	83793168	83793168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793168C>T	ENST00000395310.2	-	7	893	c.711G>A	c.(709-711)cgG>cgA	p.R237R	SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R|SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000432794.1_Silent_p.R237R|SEC31A_ENST00000448323.1_Silent_p.R237R|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	237	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCACTGGTAACCGGTCATCCT	0.473																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(709-711)cgG>cgA		SEC31 homolog A (S. cerevisiae)							123.0	95.0	104.0					4																	83793168		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83793168C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.711G>A	4.37:g.83793168C>T						SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000448323.1_Silent_p.R237R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000395310.2_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R	p.R237R			O94979	SC31A_HUMAN			7	874	-		Hepatocellular(203;0.114)	237			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.711G>A	CCDS3596.1																																																																																				0.473	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		50	207	0	0	0	1	0	50	207				
PLA2G4B	100137049	broad.mit.edu	37	15	42135893	42135893	+	Nonsense_Mutation	SNP	C	C	T	rs199962342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42135893C>T	ENST00000452633.1	+	12	1115	c.763C>T	c.(763-765)Cga>Tga	p.R255*	PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*|PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.R486*			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	255	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GCTGGCCGTGCGACTGGGCTT	0.642													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18886	0.0		0.001	False		,,,				2504	0.0					ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1456-1458)Cga>Tga				C	stop/ARG,stop/ARG,stop/ARG	1,4405		0,1,2202	37.0	36.0	36.0		763,1456,1456	5.2	1.0	15		36	2,8598		0,2,4298	yes	stop-gained,stop-gained,stop-gained	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	255/782,486/894,486/1013	42135893	3,13003	2203	4300	6503	SO:0001587	stop_gained	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42135893C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.763C>T	15.37:g.42135893C>T	ENSP00000396045:p.Arg255*					JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|PLA2G4B_ENST00000452633.1_Nonsense_Mutation_p.R255*	p.R486*	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			16	1465	+			255			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Nonsense_Mutation	SNP	ENST00000452633.1	37	c.1456C>T	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	37	6.069963	0.97256	2.27E-4	2.33E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9013	17.7747	0.88503	0.0:1.0:0.0:0.0	.	.	.	.	X	486;486;255;255	.	ENSP00000342785:R486X	R	+	1	2	JMJD7-PLA2G4B;PLA2G4B	39923185	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.545000	0.53648	2.573000	0.86826	0.655000	0.94253	CGA		0.642	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		62	247	0	0	0	1	0	62	247				
BTN3A2	11118	broad.mit.edu	37	6	26370581	26370581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370581G>T	ENST00000356386.2	+	5	653	c.465G>T	c.(463-465)aaG>aaT	p.K155N	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	155					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCGAAGTGAAGGGTTATGAGG	0.512																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(463-465)aaG>aaT		butyrophilin, subfamily 3, member A2							106.0	95.0	99.0					6																	26370581		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370581G>T	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.465G>T	6.37:g.26370581G>T	ENSP00000348751:p.Lys155Asn					BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N	p.K155N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	653	+			155					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.465G>T	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.198784	0.38806	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T	0.13901	2.55;3.28;4.04;4.04;3.89;4.04;4.04;4.45	2.84	-1.73	0.08081	Immunoglobulin-like fold (1);	.	.	.	.	T	0.19046	0.0457	M	0.87381	2.88	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.04078	-1.0979	9	0.72032	D	0.01	.	2.5861	0.04830	0.469:0.0:0.3088:0.2221	.	132;155	F8W6E0;P78410	.;BT3A2_HUMAN	N	113;113;155;155;155;132;155;155;113	ENSP00000435952:K113N;ENSP00000434102:K113N;ENSP00000432138:K155N;ENSP00000348751:K155N;ENSP00000380140:K132N;ENSP00000366937:K155N;ENSP00000380152:K155N;ENSP00000442687:K113N	ENSP00000348751:K155N	K	+	3	2	BTN3A2	26478560	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.233000	0.09041	-0.301000	0.08882	0.405000	0.27470	AAG		0.512	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			35	283	1	0	3.03874e-20	1	3.40186e-20	35	283				
NAP1L2	4674	broad.mit.edu	37	X	72434219	72434219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72434219G>A	ENST00000373517.3	-	1	465	c.110C>T	c.(109-111)gCc>gTc	p.A37V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	37					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A37V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCCAGCAGCGGCATCTTCACC	0.577																																						ENST00000373517.3																			1	Substitution - Missense(1)	p.A37V(1)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(109-111)gCc>gTc		nucleosome assembly protein 1-like 2							55.0	51.0	52.0					X																	72434219		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72434219G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.110C>T	X.37:g.72434219G>A	ENSP00000362616:p.Ala37Val					NAP1L2_ENST00000536638.1_Intron	p.A37V	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	465	-	Renal(35;0.156)		37					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.110C>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	0.254	-1.004577	0.02112	.	.	ENSG00000186462	ENST00000373517	D	0.91631	-2.88	3.1	1.25	0.21368	.	0.493565	0.19867	N	0.104294	T	0.77384	0.4122	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61907	-0.6966	10	0.12766	T	0.61	0.241	4.486	0.11790	0.347:0.0:0.653:0.0	.	37	Q9ULW6	NP1L2_HUMAN	V	37	ENSP00000362616:A37V	ENSP00000362616:A37V	A	-	2	0	NAP1L2	72350944	0.686000	0.27661	0.001000	0.08648	0.199000	0.23934	0.186000	0.16978	0.187000	0.20147	0.600000	0.82982	GCC		0.577	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		81	277	0	0	0	1	0	81	277				
RAPGEF5	9771	broad.mit.edu	37	7	22233125	22233125	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22233125C>T	ENST00000401957.2	-	1	402	c.155G>A	c.(154-156)cGc>cAc	p.R52H	RAPGEF5_ENST00000405243.1_3'UTR|RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	52					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACTGCGAGCGGCTGCTCCA	0.562																																						ENST00000401957.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(154-156)cGc>cAc		Rap guanine nucleotide exchange factor (GEF) 5							36.0	39.0	38.0					7																	22233125		1078	2147	3225	SO:0001583	missense	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22233125C>T	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.155G>A	7.37:g.22233125C>T	ENSP00000384044:p.Arg52His					RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000405243.1_3'UTR	p.R52H			Q92565	RPGF5_HUMAN			1	402	-			52					A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37	c.155G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.180529	0.94846	.	.	ENSG00000136237	ENST00000425852;ENST00000258735;ENST00000401957	T	0.59364	0.27	5.85	5.85	0.93711	.	.	.	.	.	T	0.63355	0.2504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52866	-0.8518	6	0.15952	T	0.53	.	19.7493	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	H	52	ENSP00000384044:R52H	ENSP00000258735:R52H	R	-	2	0	RAPGEF5	22199650	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.575000	0.67430	2.767000	0.95098	0.563000	0.77884	CGC		0.562	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		6	18	0	0	0	1	0	6	18				
AHCTF1	25909	broad.mit.edu	37	1	247051761	247051761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247051761G>A	ENST00000391829.2	-	18	2326	c.2203C>T	c.(2203-2205)Cga>Tga	p.R735*	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.R770*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	735	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTCAATTCGCTCTCCTAAC	0.408																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(2308-2310)Cga>Tga		AT hook containing transcription factor 1							92.0	88.0	89.0					1																	247051761		2203	4297	6500	SO:0001587	stop_gained	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247051761G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2203C>T	1.37:g.247051761G>A	ENSP00000375705:p.Arg735*					AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.R735*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*	p.R770*			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		18	2444	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	735			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	ENST00000391829.2	37	c.2308C>T		.	.	.	.	.	.	.	.	.	.	G	40	7.950270	0.98577	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.26	0.549	0.17213	.	0.662265	0.15314	N	0.268929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.9514	7.5402	0.27733	0.0666:0.4772:0.3241:0.1321	.	.	.	.	X	770;744;735	.	ENSP00000355465:R744X	R	-	1	2	AHCTF1	245118384	0.291000	0.24352	0.064000	0.19789	0.978000	0.69477	1.627000	0.37050	-0.113000	0.11958	0.305000	0.20034	CGA		0.408	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		11	349	0	0	0	1	0	11	349				
PCDHGA2	56113	broad.mit.edu	37	5	140720708	140720708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720708C>T	ENST00000394576.2	+	1	2170	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	724					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L724V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCACGCCTGCTGCAGGC	0.642																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.L724V(2)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2170-2172)Ctg>Ttg									79.0	84.0	82.0					5																	140720708		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140720708C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2170C>T	5.37:g.140720708C>T						PCDHGA1_ENST00000517417.1_Intron	p.L724L	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2170	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.2170C>T	CCDS47289.1																																																																																				0.642	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		152	644	0	0	0	1	0	152	644				
CD276	80381	broad.mit.edu	37	15	73995295	73995295	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73995295T>G	ENST00000318443.5	+	4	903	c.601T>G	c.(601-603)Ttg>Gtg	p.L201V	CD276_ENST00000537340.2_Missense_Mutation_p.L55V|CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	201	Ig-like C2-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CGAGCAGGGCTTGTTTGATGT	0.632																																						ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.(601-603)Ttg>Gtg		CD276 molecule							106.0	85.0	92.0					15																	73995295		2198	4297	6495	SO:0001583	missense	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73995295T>G	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.601T>G	15.37:g.73995295T>G	ENSP00000320084:p.Leu201Val					CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000564751.1_Intron|CD276_ENST00000537340.2_Missense_Mutation_p.L55V|CD276_ENST00000318424.5_Intron	p.L201V	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			4	903	+			201			Ig-like C2-type 1.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	c.601T>G	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595574	0.46318	.	.	ENSG00000103855	ENST00000318443;ENST00000379823;ENST00000537340	T;T	0.80824	-1.42;-1.42	3.29	-3.87	0.04218	Immunoglobulin subtype 2 (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89897	0.6848	M	0.90977	3.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.994	D	0.89774	0.3956	9	0.87932	D	0	.	13.8295	0.63370	0.0:0.8405:0.0:0.1595	.	147;201;201	B4DK26;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	V	201;201;55	ENSP00000320084:L201V;ENSP00000441087:L55V	ENSP00000320084:L201V	L	+	1	2	CD276	71782348	0.053000	0.20554	0.962000	0.40283	0.127000	0.20565	0.193000	0.17116	-0.903000	0.03881	0.260000	0.18958	TTG		0.632	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		36	232	0	0	0	1	0	36	232				
CCNA1	8900	broad.mit.edu	37	13	37012230	37012230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37012230C>A	ENST00000255465.4	+	4	835	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000418263.1_Missense_Mutation_p.L190I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I			P78396	CCNA1_HUMAN	cyclin A1	191					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATTCATCTCTCCTCTCCCA	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(568-570)Ctc>Atc		cyclin A1							193.0	187.0	189.0					13																	37012230		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012230C>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.571C>A	13.37:g.37012230C>A	ENSP00000255465:p.Leu191Ile					CCNA1_ENST00000255465.4_Missense_Mutation_p.L191I|CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I	p.L190I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	4	918	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	191					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.568C>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	5.194	0.221422	0.09863	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15718	2.45;2.45;2.4;2.4	5.76	1.58	0.23477	.	1.145020	0.06264	N	0.694418	T	0.12008	0.0292	L	0.33137	0.985	0.09310	N	1	B;B	0.17038	0.02;0.011	B;B	0.19946	0.027;0.016	T	0.40232	-0.9574	10	0.07990	T	0.79	.	6.1055	0.20071	0.1185:0.3557:0.442:0.0838	.	190;191	P78396-2;P78396	.;CCNA1_HUMAN	I	147;147;190;191	ENSP00000400666:L147I;ENSP00000409873:L147I;ENSP00000396479:L190I;ENSP00000255465:L191I	ENSP00000255465:L191I	L	+	1	0	CCNA1	35910230	0.889000	0.30405	0.000000	0.03702	0.004000	0.04260	0.571000	0.23669	-0.054000	0.13266	0.563000	0.77884	CTC		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		130	746	1	0	4.74804e-72	1	6.03895e-72	130	746				
TRIM69	140691	broad.mit.edu	37	15	45059546	45059546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45059546G>A	ENST00000559390.1	+	8	2007	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000558173.1_Missense_Mutation_p.R156K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	360	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATCCTGAGAGGTTTGACTCA	0.478																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(466-468)aGg>aAg		tripartite motif containing 69							149.0	149.0	149.0					15																	45059546		2198	4298	6496	SO:0001583	missense	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45059546G>A	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1079G>A	15.37:g.45059546G>A	ENSP00000453177:p.Arg360Lys					TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R360K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K	p.R156K			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	5	5212	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	360					A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.467G>A	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675339	0.88445	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.58506	0.33;0.33	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000003	T	0.77350	0.4117	M	0.85373	2.75	0.37631	D	0.921682	D;D;D	0.64830	0.965;0.994;0.991	P;D;P	0.63877	0.838;0.919;0.9	T	0.82190	-0.0580	10	0.52906	T	0.07	.	16.8968	0.86102	0.0:0.0:1.0:0.0	.	139;201;360	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	K	360;201	ENSP00000332284:R360K;ENSP00000342922:R201K	ENSP00000332284:R360K	R	+	2	0	TRIM69	42846838	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.784000	0.99039	2.589000	0.87451	0.650000	0.86243	AGG		0.478	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			117	572	0	0	0	1	0	117	572				
VIPR1	7433	broad.mit.edu	37	3	42568884	42568884	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42568884G>T	ENST00000325123.4	+	5	512		c.e5-1		VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000473575.1_Splice_Site|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000543411.1_Intron|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000433647.1_Splice_Site	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1						digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTCCAACAGCAGCAGACCA	0.617																																						ENST00000433647.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.e6-1		vasoactive intestinal peptide receptor 1							131.0	115.0	121.0					3																	42568884		2203	4300	6503	SO:0001630	splice_region_variant	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42568884G>T	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.400-1G>T	3.37:g.42568884G>T						VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000325123.4_Splice_Site|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000473575.1_Splice_Site|VIPR1_ENST00000543411.1_Intron|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA		NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	6	900	+								A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Splice_Site	SNP	ENST00000325123.4	37		CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.793086	0.31685	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000439731;ENST00000325123	.	.	.	4.71	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5622	0.50782	0.0:0.3435:0.6565:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VIPR1	42543888	0.213000	0.23551	0.574000	0.28523	0.233000	0.25261	0.192000	0.17096	1.050000	0.40346	0.655000	0.94253	.		0.617	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	Intron	59	323	1	0	1.19553e-41	1	1.45319e-41	59	323				
FLRT3	23767	broad.mit.edu	37	20	14308063	14308063	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14308063G>A	ENST00000378053.3	-	2	346	c.90C>T	c.(88-90)tcC>tcT	p.S30S	FLRT3_ENST00000341420.4_Silent_p.S30S|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	30	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGATGGACAGGATTTAGCCA	0.478																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(88-90)tcC>tcT		fibronectin leucine rich transmembrane protein 3							112.0	101.0	105.0					20																	14308063		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14308063G>A	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.90C>T	20.37:g.14308063G>A						MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.S30S|MACROD2_ENST00000217246.4_Intron	p.S30S	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	346	-		Colorectal(1;0.0464)	30			LRRNT.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.90C>T	CCDS13121.1																																																																																				0.478	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		75	378	0	0	0	1	0	75	378				
HOXC4	3221	broad.mit.edu	37	12	54448914	54448914	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54448914G>A	ENST00000430889.2	+	2	766	c.720G>A	c.(718-720)ccG>ccA	p.P240P	HOXC4_ENST00000609810.1_Silent_p.P240P|HOXC4_ENST00000303406.4_Silent_p.P240P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	240					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAGCTACCCCGGGTACTTCTG	0.617																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(718-720)ccG>ccA		homeobox C4							18.0	20.0	20.0					12																	54448914		2203	4300	6503	SO:0001819	synonymous_variant	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448914G>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.720G>A	12.37:g.54448914G>A						HOXC4_ENST00000303406.4_Silent_p.P240P	p.P240P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	766	+			240						Silent	SNP	ENST00000430889.2	37	c.720G>A	CCDS8873.1																																																																																				0.617	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			27	102	0	0	0	1	0	27	102				
SNCAIP	9627	broad.mit.edu	37	5	121786879	121786879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786879G>T	ENST00000261368.8	+	10	2599	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|SNCAIP_ENST00000261367.7_Missense_Mutation_p.Q826H|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	779					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTGACCCTCAGCAGCCCAGCC	0.547																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2476-2478)caG>caT		synuclein, alpha interacting protein							56.0	60.0	59.0					5																	121786879		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786879G>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2337G>T	5.37:g.121786879G>T	ENSP00000261368:p.Gln779His					CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H|SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Q779H|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	p.Q826H			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3906	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	779					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2478G>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228979	0.01518	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.12672	4.47;4.99;2.7;2.66;4.99;4.98;2.66;4.69	5.87	-5.2	0.02823	.	0.665589	0.15287	N	0.270390	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.32507	0.0;0.0;0.001;0.164;0.003;0.164;0.373;0.161	B;B;B;B;B;B;B;B	0.30401	0.0;0.0;0.0;0.115;0.001;0.115;0.09;0.033	T	0.37267	-0.9713	10	0.21014	T	0.42	-0.3089	0.1661	0.00108	0.3158:0.1818:0.2432:0.2593	.	719;407;381;719;413;413;826;779	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	H	337;719;779;826;719;413;826;381	ENSP00000441681:Q337H;ENSP00000422106:Q719H;ENSP00000261368:Q779H;ENSP00000368848:Q826H;ENSP00000368851:Q719H;ENSP00000368854:Q413H;ENSP00000261367:Q826H;ENSP00000394392:Q381H	ENSP00000261367:Q826H	Q	+	3	2	SNCAIP	121814778	0.038000	0.19896	0.224000	0.23877	0.003000	0.03518	-0.023000	0.12456	-0.369000	0.08028	-1.551000	0.00897	CAG		0.547	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			52	199	1	0	1.21353e-23	1	1.38083e-23	52	199				
ARHGEF5	7984	broad.mit.edu	37	7	144061097	144061097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144061097C>T	ENST00000056217.5	+	2	1509	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	445					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAACTGTCCCCCGCAGCTC	0.562																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1333-1335)tcC>tcT		Rho guanine nucleotide exchange factor (GEF) 5							15.0	15.0	15.0					7																	144061097		1741	3333	5074	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144061097C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1335C>T	7.37:g.144061097C>T							p.S445S	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	1509	+	Melanoma(164;0.14)		445					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1335C>T	CCDS34771.1																																																																																				0.562	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		16	260	0	0	0	1	0	16	260				
CHAMP1	283489	broad.mit.edu	37	13	115090319	115090319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115090319G>A	ENST00000361283.1	+	3	1311	c.1002G>A	c.(1000-1002)tgG>tgA	p.W334*		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	334	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CAGGACCTTGGAAGCCAGCTA	0.547																																						ENST00000361283.1																			0											c.(1000-1002)tgG>tgA		chromosome alignment maintaining phosphoprotein 1							111.0	104.0	107.0					13																	115090319		2203	4300	6503	SO:0001587	stop_gained	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090319G>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1002G>A	13.37:g.115090319G>A	ENSP00000354730:p.Trp334*						p.W334*	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1311	+			334			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Nonsense_Mutation	SNP	ENST00000361283.1	37	c.1002G>A	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	38	7.096602	0.98059	.	.	ENSG00000198824	ENST00000361283	.	.	.	5.92	5.92	0.95590	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2647	20.3325	0.98724	0.0:0.0:1.0:0.0	.	.	.	.	X	334	.	.	W	+	3	0	ZNF828	114108421	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.575000	0.36493	2.805000	0.96524	0.655000	0.94253	TGG		0.547	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		79	299	0	0	0	1	0	79	299				
SYN3	8224	broad.mit.edu	37	22	33265005	33265005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33265005G>T	ENST00000358763.2	-	5	811	c.569C>A	c.(568-570)cCt>cAt	p.P190H	SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGACAGCAGGCAGCCCTCC	0.607																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(568-570)cCt>cAt		synapsin III							71.0	56.0	61.0					22																	33265005		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33265005G>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.569C>A	22.37:g.33265005G>T	ENSP00000351614:p.Pro190His					SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	p.P190H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			5	811	-			190			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.569C>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319821	0.60634	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.067659	0.64402	D	0.000014	T	0.42268	0.1195	M	0.70275	2.135	0.80722	D	1	P;B;P	0.44260	0.83;0.434;0.83	B;B;B	0.34536	0.185;0.131;0.185	T	0.51356	-0.8716	10	0.72032	D	0.01	-3.5917	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	189;190;190	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	190	ENSP00000351614:P190H;ENSP00000330219:P190H	ENSP00000330219:P190H	P	-	2	0	SYN3	31595005	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.538000	0.82048	2.941000	0.99782	0.655000	0.94253	CCT		0.607	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			27	152	1	0	1.39806e-14	1	1.52044e-14	27	152				
TTC9	23508	broad.mit.edu	37	14	71109141	71109141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71109141C>T	ENST00000256367.2	+	1	638	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	CTD-2540L5.6_ENST00000500016.1_lincRNA|CTD-2540L5.5_ENST00000553982.1_lincRNA	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	99										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGAACGGGAGCGGGACTCGCG	0.657																																						ENST00000256367.2																			0				skin(1)	1						c.(295-297)Cgg>Tgg		tetratricopeptide repeat domain 9							8.0	9.0	9.0					14																	71109141		1805	3996	5801	SO:0001583	missense	23508						binding	g.chr14:71109141C>T	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.295C>T	14.37:g.71109141C>T	ENSP00000256367:p.Arg99Trp						p.R99W	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	1	638	+			99					Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.295C>T	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327117	0.41197	.	.	ENSG00000133985	ENST00000256367	T	0.18657	2.2	4.08	2.0	0.26442	Tetratricopeptide-like helical (1);	1.444650	0.04344	N	0.354604	T	0.26304	0.0642	L	0.34521	1.04	0.20403	N	0.999902	D	0.63880	0.993	P	0.50352	0.638	T	0.31613	-0.9937	10	0.66056	D	0.02	-7.537	9.1798	0.37134	0.2773:0.5867:0.136:0.0	.	99	Q92623	TTC9A_HUMAN	W	99	ENSP00000256367:R99W	ENSP00000256367:R99W	R	+	1	2	TTC9	70178894	0.963000	0.33076	0.984000	0.44739	0.193000	0.23685	0.935000	0.28924	1.029000	0.39812	0.555000	0.69702	CGG		0.657	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		12	54	0	0	0	1	0	12	54				
PTPRB	5787	broad.mit.edu	37	12	70980889	70980889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70980889C>T	ENST00000261266.5	-	7	1584	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K|PTPRB_ENST00000334414.6_Missense_Mutation_p.E737K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	519	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAAGTGAATTCTTTGGCATCT	0.433																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(2209-2211)Gaa>Aaa		protein tyrosine phosphatase, receptor type, B							139.0	130.0	133.0					12																	70980889		1906	4122	6028	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70980889C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1555G>A	12.37:g.70980889C>T	ENSP00000261266:p.Glu519Lys					PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E519K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K	p.E737K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		9	2253	-	Renal(347;0.236)		519			Fibronectin type-III 9.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2209G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109322	0.56398	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052530	0.64402	D	0.000001	T	0.73628	0.3611	M	0.79926	2.475	0.58432	D	0.999998	D;D;P;D;D;D;D	0.76494	0.996;0.996;0.921;0.989;0.995;0.996;0.999	D;D;P;D;D;D;D	0.70935	0.947;0.947;0.845;0.92;0.911;0.947;0.971	T	0.73717	-0.3895	10	0.35671	T	0.21	.	18.5628	0.91107	0.0:1.0:0.0:0.0	.	429;519;616;736;737;519;737	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	K	737;429;737;737;519;429;519;736;616	ENSP00000334928:E737K;ENSP00000393028:E429K;ENSP00000448058:E737K;ENSP00000438927:E519K;ENSP00000447302:E429K;ENSP00000261266:E519K;ENSP00000448349:E736K;ENSP00000446982:E616K	ENSP00000261266:E519K	E	-	1	0	PTPRB	69267156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.273000	0.72581	2.368000	0.80403	0.557000	0.71058	GAA		0.433	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			66	277	0	0	0	1	0	66	277				
SPOCK3	50859	broad.mit.edu	37	4	167921568	167921568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:167921568G>A	ENST00000357154.3	-	5	428	c.291C>T	c.(289-291)cgC>cgT	p.R97R	SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000541354.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	97					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATACTTTATGGCGACTACATT	0.358																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(289-291)cgC>cgT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							138.0	132.0	134.0					4																	167921568		2203	4300	6503	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167921568G>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.291C>T	4.37:g.167921568G>A						SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000357545.4_Silent_p.R94R	p.R97R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	5	428	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	97					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.291C>T	CCDS54817.1																																																																																				0.358	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			79	427	0	0	0	1	0	79	427				
FBXW11	23291	broad.mit.edu	37	5	171327098	171327098	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171327098C>T	ENST00000265094.5	-	4	517	c.380G>A	c.(379-381)gGc>gAc	p.G127D	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D|FBXW11_ENST00000296933.6_Missense_Mutation_p.G114D|FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	127					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGATCTAAGCCTTGCTCTAC	0.428																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(340-342)gGc>gAc		F-box and WD repeat domain containing 11							98.0	98.0	98.0					5																	171327098		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171327098C>T	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.380G>A	5.37:g.171327098C>T	ENSP00000265094:p.Gly127Asp					FBXW11_ENST00000265094.5_Missense_Mutation_p.G127D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D|FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D	p.G114D	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	711	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	127			Homodimerization domain D (By similarity).		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.341G>A	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645290	0.87859	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	4.48	4.48	0.54585	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.964;0.973;0.974;0.988	T	0.63180	-0.6695	10	0.66056	D	0.02	-11.0944	17.1401	0.86750	0.0:1.0:0.0:0.0	.	95;93;127;114	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	D	114;127;93;95;148	ENSP00000296933:G114D;ENSP00000265094:G127D;ENSP00000377391:G93D;ENSP00000444929:G95D;ENSP00000428753:G148D	ENSP00000265094:G127D	G	-	2	0	FBXW11	171259703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.771000	0.85420	2.195000	0.70347	0.462000	0.41574	GGC		0.428	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		117	497	0	0	0	1	0	117	497				
CD163L1	283316	broad.mit.edu	37	12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531634G>A	ENST00000313599.3	-	9	2368	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408																																						ENST00000313599.3																			1	Substitution - Nonsense(1)	p.R771*(1)	ovary(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2311-2313)Cga>Tga		CD163 molecule-like 1							72.0	72.0	72.0					12																	7531634		2203	4300	6503	SO:0001587	stop_gained	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531634G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2311C>T	12.37:g.7531634G>A	ENSP00000315945:p.Arg771*					CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*	p.R771*			Q9NR16	C163B_HUMAN			9	2368	-			771			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	c.2311C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076743	0.94000	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	1.82	-1.31	0.09230	.	3.403600	0.01971	U	0.044106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.6624	0.08244	0.1909:0.0:0.4673:0.3418	.	.	.	.	X	771;781;771	.	ENSP00000315945:R771X	R	-	1	2	CD163L1	7422901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.284000	0.08422	-0.315000	0.08703	0.455000	0.32223	CGA		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		88	366	0	0	0	1	0	88	366				
FZD7	8324	broad.mit.edu	37	2	202900483	202900483	+	Silent	SNP	C	C	T	rs568883247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900483C>T	ENST00000286201.1	+	1	1174	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	371					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGTGGGGCCACGAGGCCATCG	0.627											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18213	0.0		0.0	False		,,,				2504	0.001					ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1111-1113)caC>caT		frizzled family receptor 7							66.0	67.0	67.0					2																	202900483		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900483C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1113C>T	2.37:g.202900483C>T			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.H371H	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1174	+			371					O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.1113C>T	CCDS2351.1																																																																																				0.627	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		16	403	0	0	0	1	0	16	403				
STRA8	346673	broad.mit.edu	37	7	134928112	134928112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134928112C>A	ENST00000275764.3	+	4	369	c.369C>A	c.(367-369)agC>agA	p.S123R		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGCAAGCAGCTTAGAGGAGG	0.502																																						ENST00000275764.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						c.(367-369)agC>agA		stimulated by retinoic acid 8							111.0	99.0	103.0					7																	134928112		2203	4300	6503	SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134928112C>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.369C>A	7.37:g.134928112C>A	ENSP00000275764:p.Ser123Arg						p.S123R	NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN			4	369	+			123						Missense_Mutation	SNP	ENST00000275764.3	37	c.369C>A	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854274	0.51270	.	.	ENSG00000146857	ENST00000275764	.	.	.	5.29	3.14	0.36123	.	0.534314	0.19603	N	0.110330	T	0.54532	0.1864	M	0.62723	1.935	0.18873	N	0.999987	D	0.61080	0.989	P	0.58873	0.847	T	0.46414	-0.9193	9	0.72032	D	0.01	-17.1714	11.4153	0.49949	0.0:0.7779:0.0:0.2221	.	123	Q7Z7C7	STRA8_HUMAN	R	123	.	ENSP00000275764:S123R	S	+	3	2	STRA8	134578652	0.954000	0.32549	0.967000	0.41034	0.850000	0.48378	2.540000	0.45727	1.240000	0.43803	-0.253000	0.11424	AGC		0.502	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		10	240	1	0	0.000673444	1	0.000681208	10	240				
MTA1	9112	broad.mit.edu	37	14	105905013	105905013	+	Silent	SNP	C	C	T	rs148162904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105905013C>T	ENST00000331320.7	+	2	247	c.33C>T	c.(31-33)taC>taT	p.Y11Y	MTA1_ENST00000405646.1_Silent_p.Y11Y|MTA1_ENST00000406191.1_Silent_p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	11	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y11Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTGCAGACTACGTCTACTTTG	0.612																																						ENST00000331320.7																			1	Substitution - coding silent(1)	p.Y11Y(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(31-33)taC>taT		metastasis associated 1		C	,	1,4405	2.1+/-5.4	0,1,2202	151.0	149.0	149.0		33,33	-2.5	1.0	14	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTA1	NM_001203258.1,NM_004689.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	11/431,11/716	105905013	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105905013C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.33C>T	14.37:g.105905013C>T						MTA1_ENST00000406191.1_Silent_p.Y11Y|MTA1_ENST00000405646.1_Silent_p.Y11Y	p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	2	247	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	11			BAH.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	37	c.33C>T	CCDS32169.1																																																																																				0.612	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			177	764	0	0	0	1	0	177	764				
ZNF583	147949	broad.mit.edu	37	19	56935069	56935069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935069G>A	ENST00000333201.9	+	5	1252	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AATTCATACAGGAGAGAAACC	0.413																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1042-1044)Gga>Aga		zinc finger protein 583							116.0	123.0	121.0					19																	56935069		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935069G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1042G>A	19.37:g.56935069G>A	ENSP00000388502:p.Gly348Arg					ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R|ZNF583_ENST00000585612.1_3'UTR	p.G348R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1252	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	348					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1042G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324461	0.81580	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.26223	1.75;1.75	4.33	4.33	0.51752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000502	T	0.48892	0.1525	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.45366	-0.9266	9	.	.	.	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	348	Q96ND8	ZN583_HUMAN	R	348	ENSP00000291598:G348R;ENSP00000388502:G348R	.	G	+	1	0	ZNF583	61626881	1.000000	0.71417	0.538000	0.28064	0.994000	0.84299	4.412000	0.59787	2.415000	0.81967	0.462000	0.41574	GGA		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		69	312	0	0	0	1	0	69	312				
EXTL1	2134	broad.mit.edu	37	1	26349754	26349754	+	Missense_Mutation	SNP	C	C	T	rs150568245	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349754C>T	ENST00000374280.3	+	1	1484	c.617C>T	c.(616-618)cCg>cTg	p.P206L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCCCACCCGTTGCGAGGT	0.682													C|||	12	0.00239617	0.0068	0.0043	5008	,	,		16883	0.0		0.0	False		,,,				2504	0.0					ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(616-618)cCg>cTg		exostosin-like glycosyltransferase 1		C	LEU/PRO	29,4373		0,29,2172	16.0	18.0	17.0		617	5.4	1.0	1	dbSNP_134	17	1,8591		0,1,4295	yes	missense	EXTL1	NM_004455.2	98	0,30,6467	TT,TC,CC		0.0116,0.6588,0.2309	probably-damaging	206/677	26349754	30,12964	2201	4296	6497	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349754C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.617C>T	1.37:g.26349754C>T	ENSP00000363398:p.Pro206Leu					EXTL1_ENST00000484339.1_3'UTR	p.P206L	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1484	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	206					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.617C>T	CCDS271.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	27.6	4.849207	0.91277	0.006588	1.16E-4	ENSG00000158008	ENST00000374280	D	0.97665	-4.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.79805	2.47	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	D	0.96055	0.9034	10	0.59425	D	0.04	-13.5266	18.941	0.92605	0.0:1.0:0.0:0.0	.	206	Q92935	EXTL1_HUMAN	L	206	ENSP00000363398:P206L	ENSP00000363398:P206L	P	+	2	0	EXTL1	26222341	1.000000	0.71417	0.968000	0.41197	0.742000	0.42306	5.839000	0.69395	2.802000	0.96397	0.655000	0.94253	CCG		0.682	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		16	126	0	0	0	1	0	16	126				
ASTN1	460	broad.mit.edu	37	1	177133624	177133624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177133624C>T	ENST00000367654.3	-	1	400	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ASTN1_ENST00000424564.2_Silent_p.E63E|ASTN1_ENST00000367657.3_Silent_p.E63E|ASTN1_ENST00000361833.2_Silent_p.E63E|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	63					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGAGCTTGGGCTCCGAGGCCG	0.617																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(187-189)gaG>gaA		astrotactin 1							69.0	57.0	61.0					1																	177133624		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133624C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.189G>A	1.37:g.177133624C>T						ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.E63E|ASTN1_ENST00000424564.2_Silent_p.E63E|ASTN1_ENST00000361833.2_Silent_p.E63E	p.E63E			O14525	ASTN1_HUMAN			1	202	-			63					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.189G>A																																																																																					0.617	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		60	184	0	0	0	1	0	60	184				
ABCA9	10350	broad.mit.edu	37	17	67029942	67029942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67029942C>T	ENST00000340001.4	-	9	1412	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T|ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	401					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAAGAGTAGCTATTATGAGG	0.323																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(1201-1203)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 9							112.0	124.0	120.0					17																	67029942		2203	4298	6501	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67029942C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1201G>A	17.37:g.67029942C>T	ENSP00000342216:p.Ala401Thr					ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T|ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T	p.A401T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			9	1412	-	Breast(10;1.47e-12)		401					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1201G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899461	0.52227	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86956	-2.19;-2.19	4.53	3.54	0.40534	.	0.000000	0.44688	D	0.000431	D	0.89364	0.6694	M	0.71036	2.16	0.09310	N	1	D;P	0.59767	0.986;0.56	P;P	0.61201	0.885;0.593	T	0.79711	-0.1689	10	0.33940	T	0.23	.	6.2299	0.20728	0.2849:0.6186:0.0:0.0965	.	401;401	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	401;384;401;396	ENSP00000342216:A401T;ENSP00000359767:A401T	ENSP00000342216:A401T	A	-	1	0	ABCA9	64541537	0.005000	0.15991	0.055000	0.19348	0.031000	0.12232	0.432000	0.21461	2.243000	0.73865	0.603000	0.83216	GCT		0.323	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		53	494	0	0	0	1	0	53	494				
PCDH17	27253	broad.mit.edu	37	13	58207971	58207971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58207971G>A	ENST00000377918.3	+	1	1317	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCCCGCTGGACCGCGAGAC	0.647																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1291-1293)Gac>Aac		protocadherin 17							40.0	29.0	32.0					13																	58207971		2202	4297	6499	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207971G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1291G>A	13.37:g.58207971G>A	ENSP00000367151:p.Asp431Asn						p.D431N	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1317	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	431			Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1291G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394096	0.62066	.	.	ENSG00000118946	ENST00000377918	T	0.63417	-0.04	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85928	0.1450	9	.	.	.	.	19.8477	0.96722	0.0:0.0:1.0:0.0	.	431;431	O14917-2;O14917	.;PCD17_HUMAN	N	431	ENSP00000367151:D431N	.	D	+	1	0	PCDH17	57105972	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	9.864000	0.99589	2.704000	0.92352	0.650000	0.86243	GAC		0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		35	142	0	0	0	1	0	35	142				
TBP	6908	broad.mit.edu	37	6	170881346	170881346	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170881346C>T	ENST00000392092.2	+	8	1292	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	TBP_ENST00000540980.1_Missense_Mutation_p.T318M|TBP_ENST00000230354.6_Missense_Mutation_p.T338M	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	338					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTCAGGAAGACGACGTAATGG	0.393																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(1012-1014)aCg>aTg		TATA box binding protein							120.0	111.0	114.0					6																	170881346		2203	4300	6503	SO:0001583	missense	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170881346C>T	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.1013C>T	6.37:g.170881346C>T	ENSP00000375942:p.Thr338Met					TBP_ENST00000230354.6_Missense_Mutation_p.T338M|TBP_ENST00000540980.1_Missense_Mutation_p.T318M	p.T338M	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	8	1292	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	338					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	37	c.1013C>T	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235125	0.58886	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67197	-0.5731	9	0.54805	T	0.06	-13.7474	20.3932	0.98965	0.0:1.0:0.0:0.0	.	338	P20226	TBP_HUMAN	M	338;318;338;315	.	ENSP00000230354:T338M	T	+	2	0	TBP	170723271	1.000000	0.71417	0.968000	0.41197	0.397000	0.30659	7.224000	0.78042	2.824000	0.97209	0.655000	0.94253	ACG		0.393	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		59	328	0	0	0	1	0	59	328				
SLC35A3	23443	broad.mit.edu	37	1	100464905	100464905	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100464905G>T	ENST00000370155.3	+	3	668	c.276G>T	c.(274-276)ggG>ggT	p.G92G	SLC35A3_ENST00000370153.1_Silent_p.G134G|SLC35A3_ENST00000370156.3_3'UTR|RNU6-1318P_ENST00000365389.1_RNA|SLC35A3_ENST00000427993.2_Silent_p.G92G|SLC35A3_ENST00000465289.1_Silent_p.G92G	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	92					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTCCATCAGGGATCTATACTC	0.299																																					Ovarian(7;298 356 944 2149 6911)	ENST00000465289.1																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(274-276)ggG>ggT		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							69.0	72.0	71.0					1																	100464905		2202	4279	6481	SO:0001819	synonymous_variant	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100464905G>T	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.276G>T	1.37:g.100464905G>T						SLC35A3_ENST00000370153.1_Silent_p.G134G|SLC35A3_ENST00000370155.3_Silent_p.G92G|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Silent_p.G92G	p.G92G	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	3	668	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	92					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	ENST00000370155.3	37	c.276G>T	CCDS762.1																																																																																				0.299	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		24	263	1	0	4.4004e-07	1	4.55749e-07	24	263				
SEPT8	23176	broad.mit.edu	37	5	132097246	132097246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132097246C>T	ENST00000378719.2	-	7	1103	c.866G>A	c.(865-867)cGc>cAc	p.R289H	SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H|SEPT8_ENST00000296873.7_Missense_Mutation_p.R289H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000481030.1_5'Flank	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	289	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGCTCGCGGAGGTCTTC	0.587																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(865-867)cGc>cAc		septin 8							66.0	74.0	71.0					5																	132097246		2191	4295	6486	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132097246C>T	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.866G>A	5.37:g.132097246C>T	ENSP00000367991:p.Arg289His					SEPT8_ENST00000378719.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H	p.R289H	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1149	-		all_cancers(142;0.0751)|Breast(839;0.198)	289					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.866G>A	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514590	0.85389	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.28	3.49	0.39957	.	0.053680	0.64402	D	0.000001	D	0.91942	0.7448	M	0.92268	3.29	0.51767	D	0.999931	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.996;1.0	D	0.91599	0.5293	10	0.87932	D	0	.	9.9392	0.41570	0.1392:0.7891:0.0:0.0717	.	287;287;289;289	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	H	289;287;289;229;289;229;287;289	ENSP00000367991:R289H;ENSP00000367993:R287H;ENSP00000296873:R289H;ENSP00000399840:R229H;ENSP00000367978:R289H;ENSP00000367971:R229H;ENSP00000367973:R287H;ENSP00000394766:R289H	ENSP00000296873:R289H	R	-	2	0	SEPT8	132125145	1.000000	0.71417	0.546000	0.28166	0.863000	0.49368	6.089000	0.71384	0.606000	0.29965	0.561000	0.74099	CGC		0.587	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		69	291	0	0	0	1	0	69	291				
BRD1	23774	broad.mit.edu	37	22	50181041	50181041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50181041C>T	ENST00000216267.8	-	7	2947	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000342989.5_Missense_Mutation_p.A547T|BRD1_ENST00000404034.1_Missense_Mutation_p.A821T|BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	821					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATTTACCTGCGTCCAGGCGC	0.657																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2461-2463)Gca>Aca		bromodomain containing 1							48.0	52.0	51.0					22																	50181041		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50181041C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2461G>A	22.37:g.50181041C>T	ENSP00000216267:p.Ala821Thr					BRD1_ENST00000404034.1_Missense_Mutation_p.A821T|BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000342989.5_Missense_Mutation_p.A547T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T	p.A821T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	7	2947	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	821					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2461G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	5.178	0.218460	0.09810	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.39	3.26	0.37387	.	0.255709	0.44285	N	0.000467	T	0.03871	0.0109	N	0.00170	-1.935	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25916	-1.0118	10	0.09338	T	0.73	.	9.0563	0.36408	0.0:0.1532:0.0:0.8468	.	952;547;821;952	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	821;821;952;509;547;412	ENSP00000216267:A821T;ENSP00000384076:A821T;ENSP00000385858:A952T;ENSP00000437514:A509T;ENSP00000345886:A547T	ENSP00000216267:A821T	A	-	1	0	BRD1	48567045	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	4.009000	0.57110	0.365000	0.24400	-0.302000	0.09304	GCA		0.657	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		61	269	0	0	0	1	0	61	269				
TPH1	7166	broad.mit.edu	37	11	18042657	18042657	+	Missense_Mutation	SNP	G	G	A	rs151168710	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18042657G>A	ENST00000250018.2	-	10	1778	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	TPH1_ENST00000525406.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.R406W	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	406					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAATACTCCGTGTATATGGA	0.398																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(1216-1218)Cgg>Tgg		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	G	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	228.0	223.0	225.0		1216	5.5	1.0	11	dbSNP_134	225	1,8585	1.2+/-3.3	0,1,4292	yes	missense	TPH1	NM_004179.2	101	0,2,6491	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	406/445	18042657	2,12984	2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18042657G>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1216C>T	11.37:g.18042657G>A	ENSP00000250018:p.Arg406Trp					RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.R406W|TPH1_ENST00000525406.1_5'UTR	p.R406W	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			10	1778	-			406					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.1216C>T	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527324	0.96431	2.27E-4	1.16E-4	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99571	-6.19;-6.19	5.53	5.53	0.82687	Aromatic amino acid hydroxylase, C-terminal (4);	0.355631	0.33161	N	0.005214	D	0.99001	0.9659	L	0.29908	0.895	0.46317	D	0.998982	P	0.41643	0.758	P	0.50791	0.65	D	0.99898	1.1153	10	0.87932	D	0	-2.2416	19.8304	0.96632	0.0:0.0:1.0:0.0	.	406	P17752	TPH1_HUMAN	W	406	ENSP00000250018:R406W;ENSP00000343550:R406W	ENSP00000250018:R406W	R	-	1	2	TPH1	17999233	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.813000	0.99286	2.775000	0.95449	0.585000	0.79938	CGG		0.398	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		122	564	0	0	0	1	0	122	564				
TTC17	55761	broad.mit.edu	37	11	43418341	43418341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418341C>T	ENST00000039989.4	+	6	760	c.746C>T	c.(745-747)gCc>gTc	p.A249V	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.A249V|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	249					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAATGTGCCATGCGAGCA	0.393																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(745-747)gCc>gTc		tetratricopeptide repeat domain 17							138.0	126.0	130.0					11																	43418341		2202	4300	6502	SO:0001583	missense	55761						binding	g.chr11:43418341C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.746C>T	11.37:g.43418341C>T	ENSP00000039989:p.Ala249Val					TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A249V	p.A249V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			6	760	+			249					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.746C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398035	0.25205	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.54071	0.59;0.59	5.6	5.6	0.85130	.	0.096585	0.64402	D	0.000001	T	0.38665	0.1049	N	0.11064	0.09	0.45227	D	0.998237	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.16722	0.005;0.007;0.016	T	0.13176	-1.0519	10	0.37606	T	0.19	-8.1257	19.5958	0.95536	0.0:1.0:0.0:0.0	.	249;249;249	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	249	ENSP00000299240:A249V;ENSP00000039989:A249V	ENSP00000039989:A249V	A	+	2	0	TTC17	43374917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.800000	0.69108	2.806000	0.96561	0.655000	0.94253	GCC		0.393	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		46	261	0	0	0	1	0	46	261				
MYOM1	8736	broad.mit.edu	37	18	3154969	3154969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3154969G>T	ENST00000356443.4	-	11	1952	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H	MYOM1_ENST00000400569.3_Missense_Mutation_p.P540H|MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	540	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCGAGAATAGGACTCCCTCC	0.438																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1618-1620)cCt>cAt		myomesin 1							65.0	65.0	65.0					18																	3154969		1902	4122	6024	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3154969G>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1619C>A	18.37:g.3154969G>T	ENSP00000348821:p.Pro540His					MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H|MYOM1_ENST00000356443.4_Missense_Mutation_p.P540H	p.P540H			P52179	MYOM1_HUMAN			11	1952	-			540			Fibronectin type-III 1.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1619C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903612	0.72754	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.59772	0.24;0.24;0.24	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.259830	0.40908	D	0.000984	T	0.79782	0.4505	M	0.87827	2.91	0.40009	D	0.975262	D;D	0.76494	0.997;0.999	D;D	0.74674	0.951;0.984	D	0.84151	0.0423	10	0.87932	D	0	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	540;540	P52179-2;P52179	.;MYOM1_HUMAN	H	540	ENSP00000348821:P540H;ENSP00000383413:P540H;ENSP00000261606:P540H	ENSP00000261606:P540H	P	-	2	0	MYOM1	3144969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.670000	0.54569	2.592000	0.87571	0.655000	0.94253	CCT		0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		21	79	1	0	3.51602e-12	1	3.76992e-12	21	79				
NOLC1	9221	broad.mit.edu	37	10	103921395	103921395	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103921395T>C	ENST00000605788.1	+	11	2059	c.1824T>C	c.(1822-1824)ccT>ccC	p.P608P	NOLC1_ENST00000603742.1_Silent_p.P327P|NOLC1_ENST00000405356.1_Silent_p.P618P|NOLC1_ENST00000488254.2_Silent_p.P609P|NOLC1_ENST00000477977.1_3'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	608					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCAGACCCCTAACACATTTC	0.428																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(1852-1854)ccT>ccC		nucleolar and coiled-body phosphoprotein 1							40.0	36.0	37.0					10																	103921395		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921395T>C	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1824T>C	10.37:g.103921395T>C						NOLC1_ENST00000605788.1_Silent_p.P608P|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Silent_p.P327P|NOLC1_ENST00000488254.2_Silent_p.P609P	p.P618P			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	11	2089	+		Colorectal(252;0.122)	608					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.1854T>C	CCDS7530.1																																																																																				0.428	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		33	139	0	0	0	1	0	33	139				
MYH9	4627	broad.mit.edu	37	22	36705431	36705431	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36705431T>G	ENST00000216181.5	-	15	1969	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	580	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCGTCAGCTTTGTAATCCAC	0.567			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1738-1740)aAa>aCa		myosin, heavy chain 9, non-muscle							156.0	123.0	134.0					22																	36705431		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36705431T>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1739A>C	22.37:g.36705431T>G	ENSP00000216181:p.Lys580Thr						p.K580T	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			15	1969	-			580			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1739A>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967794	0.74131	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.71341	-0.56	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	N	0.17278	0.47	0.80722	D	1	B	0.29115	0.233	B	0.37267	0.245	T	0.65344	-0.6191	10	0.87932	D	0	.	14.1891	0.65625	0.0:0.0:0.0:1.0	.	580	P35579	MYH9_HUMAN	T	444;580	ENSP00000216181:K580T	ENSP00000216181:K580T	K	-	2	0	MYH9	35035377	1.000000	0.71417	0.984000	0.44739	0.765000	0.43378	8.023000	0.88764	1.904000	0.55121	0.460000	0.39030	AAA		0.567	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		21	221	0	0	0	1	0	21	221				
ITLN2	142683	broad.mit.edu	37	1	160914997	160914997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160914997C>T	ENST00000368029.3	-	8	968	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	304						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACGTGAGTTCCATATCCATC	0.557																																						ENST00000368029.3																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19						c.(910-912)gGa>gAa		intelectin 2							75.0	65.0	69.0					1																	160914997		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160914997C>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.911G>A	1.37:g.160914997C>T	ENSP00000357008:p.Gly304Glu					ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	p.G304E	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	968	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		304					Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.911G>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747339	0.69533	.	.	ENSG00000158764	ENST00000368029	T	0.20069	2.1	4.17	4.17	0.49024	.	0.000000	0.49305	U	0.000143	T	0.45796	0.1360	M	0.91038	3.17	0.45541	D	0.998496	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.58126	-0.7691	10	0.56958	D	0.05	-3.3575	14.3514	0.66705	0.0:1.0:0.0:0.0	.	303;304	A6NI51;Q8WWU7	.;ITLN2_HUMAN	E	304	ENSP00000357008:G304E	ENSP00000357008:G304E	G	-	2	0	ITLN2	159181621	0.999000	0.42202	0.986000	0.45419	0.492000	0.33523	2.695000	0.47043	2.014000	0.59158	0.555000	0.69702	GGA		0.557	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		48	186	0	0	0	1	0	48	186				
OBSCN	84033	broad.mit.edu	37	1	228547313	228547313	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228547313C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Silent_p.T6240T|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.T3359T|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACCATCACCACTGTGGTGA	0.647																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18718-18720)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							16.0	21.0	19.0					1																	228547313		2142	4246	6388	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547313C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2964C>T	1.37:g.228547313C>T						OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.T3359T|OBSCN_ENST00000366707.4_Intron	p.T6240T			Q5VST9	OBSCN_HUMAN			81	18794	+		Prostate(94;0.0405)	6240					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.18720C>T	CCDS58065.1																																																																																				0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	48	0	0	0	1	0	7	48				
MED12L	116931	broad.mit.edu	37	3	151100468	151100468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151100468C>T	ENST00000474524.1	+	31	4548	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1504						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGAGAAGAACGATACCAAGA	0.348																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4510-4512)Cga>Tga		mediator complex subunit 12-like							60.0	60.0	60.0					3																	151100468		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151100468C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4510C>T	3.37:g.151100468C>T	ENSP00000417235:p.Arg1504*					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*	p.R1504*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		31	4548	+			1504					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.4510C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	45	11.838506	0.99609	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.9	4.05	0.47172	.	0.063424	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7263	13.6449	0.62275	0.4138:0.5862:0.0:0.0	.	.	.	.	X	1504;1364	.	ENSP00000273432:R1364X	R	+	1	2	MED12L	152583158	1.000000	0.71417	0.692000	0.30179	0.958000	0.62258	4.564000	0.60830	0.761000	0.33130	0.650000	0.86243	CGA		0.348	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		32	152	0	0	0	1	0	32	152				
PRKCI	5584	broad.mit.edu	37	3	169988246	169988246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169988246G>A	ENST00000295797.4	+	6	793	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	163	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CGAATATGGGGACTTGGACGC	0.418																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(487-489)gGa>gAa		protein kinase C, iota							123.0	112.0	116.0					3																	169988246		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169988246G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.488G>A	3.37:g.169988246G>A	ENSP00000295797:p.Gly163Glu						p.G163E	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		6	793	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		163			Regulatory domain.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.488G>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	33	5.208961	0.95069	.	.	ENSG00000163558	ENST00000295797	D	0.93659	-3.26	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	9	.	.	.	.	19.5412	0.95275	0.0:0.0:1.0:0.0	.	163	P41743	KPCI_HUMAN	E	163	ENSP00000295797:G163E	.	G	+	2	0	PRKCI	171470940	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.847000	0.99503	2.695000	0.91970	0.591000	0.81541	GGA		0.418	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		74	378	0	0	0	1	0	74	378				
C2CD2L	9854	broad.mit.edu	37	11	118983574	118983574	+	Silent	SNP	C	C	T	rs367672186		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983574C>T	ENST00000528586.1	+	6	691	c.621C>T	c.(619-621)gaC>gaT	p.D207D	C2CD2L_ENST00000336702.3_Silent_p.D459D			O14523	C2C2L_HUMAN	C2CD2-like	459						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCGTATAGACGGCAAATTAG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		17154	0.0		0.0	False		,,,				2504	0.001					ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1375-1377)gaC>gaT		C2CD2-like		C		0,4400		0,0,2200	56.0	47.0	50.0		1377	1.3	1.0	11		50	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	C2CD2L	NM_014807.3		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		459/708	118983574	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118983574C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.621C>T	11.37:g.118983574C>T						C2CD2L_ENST00000528586.1_Silent_p.D207D	p.D459D	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			10	1736	+			459					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.1377C>T																																																																																					0.572	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		30	248	0	0	0	1	0	30	248				
MRPL15	29088	broad.mit.edu	37	8	55055274	55055274	+	Missense_Mutation	SNP	G	G	A	rs140295154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055274G>A	ENST00000260102.4	+	4	555	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	161					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GTTGGCTTCAGAACTAGCTAT	0.393																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(481-483)Gaa>Aaa		mitochondrial ribosomal protein L15							114.0	103.0	106.0					8																	55055274		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55055274G>A	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.481G>A	8.37:g.55055274G>A	ENSP00000260102:p.Glu161Lys						p.E161K	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		4	555	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	161					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.481G>A	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119001	0.94385	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	5.33	0.75918	Ribosomal protein L18e/L15P (2);	0.043652	0.85682	D	0.000000	T	0.40546	0.1121	N	0.03029	-0.43	0.80722	D	1	P	0.41159	0.74	P	0.50440	0.641	T	0.45527	-0.9255	9	0.30854	T	0.27	-28.0007	14.957	0.71124	0.0:0.1423:0.8577:0.0	.	161	Q9P015	RM15_HUMAN	K	161	.	ENSP00000260102:E161K	E	+	1	0	MRPL15	55217827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.742000	0.85008	2.652000	0.90054	0.655000	0.94253	GAA		0.393	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		63	272	0	0	0	1	0	63	272				
TNC	3371	broad.mit.edu	37	9	117826322	117826322	+	Silent	SNP	G	G	A	rs562793021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826322G>A	ENST00000350763.4	-	12	3924	c.3513C>T	c.(3511-3513)gtC>gtT	p.V1171V	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Silent_p.V1171V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1171	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGGCCACCACGACCTCTCCCA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		17576	0.001		0.0	False		,,,				2504	0.0					ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(3511-3513)gtC>gtT		tenascin C							95.0	102.0	100.0					9																	117826322		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826322G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3513C>T	9.37:g.117826322G>A						TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Silent_p.V1171V|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000542877.1_Intron	p.V1171V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			12	3924	-			1171			Fibronectin type-III 7.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.3513C>T	CCDS6811.1																																																																																				0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		28	800	0	0	0	1	0	28	800				
NOMO2	283820	broad.mit.edu	37	16	18532153	18532153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18532153G>T	ENST00000381474.3	-	19	2272	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	NOMO2_ENST00000330537.6_Missense_Mutation_p.P736H|NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	736						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTGCACGGGAGGCTTGGTCAT	0.557																																						ENST00000330537.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						c.(2206-2208)cCt>cAt		NODAL modulator 2							284.0	288.0	287.0					16																	18532153		2196	4298	6494	SO:0001583	missense	283820					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:18532153G>T	AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2207C>A	16.37:g.18532153G>T	ENSP00000370883:p.Pro736His					NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H|NOMO2_ENST00000381474.3_Missense_Mutation_p.P736H	p.P736H	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN			19	2377	-			736					Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	c.2207C>A	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163273	0.38217	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04119	3.72;3.71;3.7	3.37	2.4	0.29515	.	0.056200	0.64402	D	0.000001	T	0.07143	0.0181	N	0.08118	0	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	T	0.45293	-0.9271	10	0.46703	T	0.11	-11.1418	9.5696	0.39420	0.1064:0.0:0.8936:0.0	.	569;736	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	736;736;569	ENSP00000331851:P736H;ENSP00000370883:P736H;ENSP00000439970:P569H	ENSP00000331851:P736H	P	-	2	0	NOMO2	18439654	1.000000	0.71417	0.092000	0.20876	0.179000	0.23085	6.912000	0.75753	0.719000	0.32188	0.455000	0.32223	CCT		0.557	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		140	1072	1	0	1.66795e-42	1	2.03135e-42	140	1072				
TAGAP	117289	broad.mit.edu	37	6	159457286	159457286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159457286G>T	ENST00000367066.3	-	10	2100	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H	TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	590					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGGCTTCCAGGCCTCTCCCA	0.632																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1768-1770)cCt>cAt		T-cell activation RhoGTPase activating protein							44.0	50.0	48.0					6																	159457286		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457286G>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1769C>A	6.37:g.159457286G>T	ENSP00000356033:p.Pro590His					TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	p.P590H	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2100	-		Breast(66;0.000776)|Ovarian(120;0.0303)	590					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.1769C>A	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436674	0.83885	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.71222	-0.45;-0.55	5.54	5.54	0.83059	.	0.075686	0.56097	D	0.000030	D	0.82291	0.5005	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.84171	0.0434	10	0.87932	D	0	-13.9202	19.077	0.93167	0.0:0.0:1.0:0.0	.	590	Q8N103	TAGAP_HUMAN	H	590;412;255	ENSP00000356033:P590H;ENSP00000322650:P412H	ENSP00000322650:P412H	P	-	2	0	TAGAP	159377274	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	5.734000	0.68580	2.595000	0.87683	0.655000	0.94253	CCT		0.632	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		77	361	1	0	8.07507e-42	1	9.8197e-42	77	361				
HEXIM1	10614	broad.mit.edu	37	17	43227267	43227267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43227267G>T	ENST00000332499.2	+	1	2584	c.710G>T	c.(709-711)aGc>aTc	p.S237I	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	237	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACGACACCAGCGATGACGAC	0.617																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(709-711)aGc>aTc		hexamethylene bis-acetamide inducible 1							37.0	41.0	40.0					17																	43227267		2202	4299	6501	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227267G>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.710G>T	17.37:g.43227267G>T	ENSP00000328773:p.Ser237Ile						p.S237I	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2584	+			237			Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.710G>T	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925625	0.73213	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.74	4.74	0.60224	.	0.217998	0.45606	D	0.000351	T	0.62636	0.2444	M	0.77616	2.38	0.44771	D	0.997773	P	0.51933	0.949	P	0.46110	0.504	T	0.69752	-0.5060	9	0.66056	D	0.02	-16.1972	12.2268	0.54465	0.0:0.1719:0.828:0.0	.	237	O94992	HEXI1_HUMAN	I	237	.	ENSP00000328773:S237I	S	+	2	0	HEXIM1	40583050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.187000	0.69744	0.561000	0.74099	AGC		0.617	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		67	367	1	0	1.64573e-32	1	1.94376e-32	67	367				
APH1A	51107	broad.mit.edu	37	1	150240145	150240145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240145G>A	ENST00000369109.3	-	3	517	c.329C>T	c.(328-330)tCa>tTa	p.S110L	APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Missense_Mutation_p.S110L	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	110					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGATGGGTGATCTTCCGTC	0.592																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(328-330)tCa>tTa		APH1A gamma secretase subunit							42.0	47.0	46.0					1																	150240145		1981	4161	6142	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150240145G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.329C>T	1.37:g.150240145G>A	ENSP00000358105:p.Ser110Leu					APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.S110L|APH1A_ENST00000414276.2_Intron	p.S110L	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	821	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		110					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.329C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949348	0.34377	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.43294	0.95;0.95;0.95	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.26011	0.0634	L	0.46614	1.455	0.80722	D	1	B;B;B;P	0.38223	0.12;0.08;0.098;0.623	B;B;B;B	0.37833	0.048;0.104;0.166;0.259	T	0.04153	-1.0973	10	0.31617	T	0.26	-3.7325	15.7896	0.78343	0.0:0.0:1.0:0.0	.	53;110;110;110	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	L	110;110;53	ENSP00000358105:S110L;ENSP00000353380:S110L;ENSP00000236017:S53L	ENSP00000236017:S53L	S	-	2	0	APH1A	148506769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.673000	0.74482	2.583000	0.87209	0.491000	0.48974	TCA		0.592	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		14	83	0	0	0	1	0	14	83				
XPNPEP3	63929	broad.mit.edu	37	22	41282489	41282489	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282489A>C	ENST00000357137.4	+	4	846	c.762A>C	c.(760-762)cgA>cgC	p.R254R	XPNPEP3_ENST00000414396.1_Silent_p.R254R|XPNPEP3_ENST00000544094.1_Silent_p.R231R|XPNPEP3_ENST00000541156.1_Silent_p.R254R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	254					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AAATTGAACGAATGCAGATTG	0.522																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(760-762)cgA>cgC		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							77.0	80.0	79.0					22																	41282489		2203	4300	6503	SO:0001819	synonymous_variant	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41282489A>C		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.762A>C	22.37:g.41282489A>C						XPNPEP3_ENST00000541156.1_Silent_p.R254R|XPNPEP3_ENST00000414396.1_Silent_p.R254R|XPNPEP3_ENST00000544094.1_Silent_p.R231R	p.R254R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			4	846	+			254					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Silent	SNP	ENST00000357137.4	37	c.762A>C	CCDS14007.1																																																																																				0.522	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		76	337	0	0	0	1	0	76	337				
CLIP2	7461	broad.mit.edu	37	7	73768325	73768325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768325C>T	ENST00000395060.1	+	3	794	c.794C>T	c.(793-795)gCg>gTg	p.A265V	CLIP2_ENST00000223398.6_Missense_Mutation_p.A265V|CLIP2_ENST00000361545.5_Missense_Mutation_p.A265V			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	265	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGGCGGTGGCGGGCACCAGG	0.652																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(793-795)gCg>gTg		CAP-GLY domain containing linker protein 2							85.0	87.0	86.0					7																	73768325		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73768325C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.794C>T	7.37:g.73768325C>T	ENSP00000378500:p.Ala265Val					CLIP2_ENST00000361545.5_Missense_Mutation_p.A265V|CLIP2_ENST00000395060.1_Missense_Mutation_p.A265V	p.A265V	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			4	1121	+			265			CAP-Gly 2.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.794C>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130631	0.77549	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.75050	-0.9;-0.9;-0.9	5.5	5.5	0.81552	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	D	0.89636	0.3859	10	0.62326	D	0.03	-40.9586	18.1332	0.89608	0.0:1.0:0.0:0.0	.	265;265	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	V	265	ENSP00000223398:A265V;ENSP00000355151:A265V;ENSP00000378500:A265V	ENSP00000223398:A265V	A	+	2	0	CLIP2	73406261	1.000000	0.71417	0.983000	0.44433	0.133000	0.20885	7.452000	0.80683	2.861000	0.98227	0.655000	0.94253	GCG		0.652	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		140	630	0	0	0	1	0	140	630				
RYR1	6261	broad.mit.edu	37	19	38959659	38959659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38959659C>T	ENST00000359596.3	+	26	3435	c.3435C>T	c.(3433-3435)ggC>ggT	p.G1145G	RYR1_ENST00000355481.4_Silent_p.G1145G|RYR1_ENST00000360985.3_Silent_p.G1145G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1145	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCAGCCGGGCGATGTCGTTG	0.582																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3433-3435)ggC>ggT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						90.0	81.0	84.0					19																	38959659		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959659C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3435C>T	19.37:g.38959659C>T						RYR1_ENST00000360985.3_Silent_p.G1145G|RYR1_ENST00000359596.3_Silent_p.G1145G	p.G1145G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3566	+	all_cancers(60;7.91e-06)		1145			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3435C>T	CCDS33011.1																																																																																				0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			69	291	0	0	0	1	0	69	291				
XRCC6	2547	broad.mit.edu	37	22	42033677	42033677	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42033677G>T	ENST00000359308.4	+	5	1310	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y|XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	219					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GTTCTACAGAGATATCATCAG	0.488								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(655-657)Gat>Tat	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							39.0	33.0	35.0					22																	42033677		2203	4298	6501	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42033677G>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.655G>T	22.37:g.42033677G>T	ENSP00000352257:p.Asp219Tyr					XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y|XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y	p.D219Y			P12956	XRCC6_HUMAN			5	1310	+			219					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.655G>T	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842693	0.91197	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.74	5.74	0.90152	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.983;1.0;0.988	D	0.86954	0.2087	9	0.87932	D	0	-24.6149	19.9357	0.97140	0.0:0.0:1.0:0.0	.	169;219;178;219	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	Y	219;178;86;219;219;219;169	.	ENSP00000352257:D219Y	D	+	1	0	XRCC6	40363623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.209000	0.95087	2.715000	0.92844	0.655000	0.94253	GAT		0.488	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		15	99	1	0	2.32078e-09	1	2.442e-09	15	99				
PRPF38B	55119	broad.mit.edu	37	1	109235385	109235385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109235385C>A	ENST00000370025.4	+	1	441	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	58					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GACCATGAACCTCAACCCCAT	0.597																																						ENST00000370025.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(172-174)Ctc>Atc		pre-mRNA processing factor 38B							127.0	89.0	102.0					1																	109235385		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109235385C>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.172C>A	1.37:g.109235385C>A	ENSP00000359042:p.Leu58Ile					PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I	p.L58I	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	1	441	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	58					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.172C>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237343	0.79800	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.64	2.71	0.32032	.	0.118753	0.64402	D	0.000017	T	0.55593	0.1930	M	0.77103	2.36	0.80722	D	1	P	0.50617	0.937	P	0.56216	0.794	T	0.55211	-0.8176	9	0.31617	T	0.26	.	9.7049	0.40209	0.2528:0.6814:0.0:0.0658	.	58	Q5VTL8	PR38B_HUMAN	I	58	.	ENSP00000359039:L58I	L	+	1	0	PRPF38B	109036908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.724000	0.61972	0.304000	0.22809	0.462000	0.41574	CTC		0.597	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		9	427	1	0	0.000274275	1	0.000278163	9	427				
IQCA1	79781	broad.mit.edu	37	2	237406070	237406070	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237406070C>A	ENST00000409907.3	-	2	346	c.72G>T	c.(70-72)gaG>gaT	p.E24D	IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D|IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	24							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTCTGAGGCTCTTTATCGA	0.383																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(70-72)gaG>gaT		IQ motif containing with AAA domain 1							53.0	52.0	52.0					2																	237406070		1848	4087	5935	SO:0001583	missense	79781						ATP binding	g.chr2:237406070C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.72G>T	2.37:g.237406070C>A	ENSP00000387347:p.Glu24Asp					IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D|IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D	p.E24D			Q86XH1	IQCA1_HUMAN			2	346	-			24					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.72G>T	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.487286|2.487286	0.44249|0.44249	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.95205	.|-3.5;-3.46;-3.64	5.52|5.52	2.71|2.71	0.32032|0.32032	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	D|D	0.95802|0.95802	0.8634|0.8634	L|L	0.56280|0.56280	1.765|1.765	0.34624|0.34624	D|D	0.718933|0.718933	.|D;D;D	.|0.89917	.|0.965;1.0;0.965	.|P;D;P	.|0.91635	.|0.523;0.999;0.523	D|D	0.96316|0.96316	0.9232|0.9232	5|10	.|0.56958	.|D	.|0.05	.|.	12.8231|12.8231	0.57704|0.57704	0.0:0.7967:0.0:0.2033|0.0:0.7967:0.0:0.2033	.|.	.|24;31;24	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	S|D	43|24;31;20;24;20	.|ENSP00000387347:E24D;ENSP00000311951:E20D;ENSP00000407213:E24D	.|ENSP00000254653:E24D	A|E	-|-	1|3	0|2	IQCA1|IQCA1	237070809|237070809	0.356000|0.356000	0.24930|0.24930	0.991000|0.991000	0.47740|0.47740	0.487000|0.487000	0.33371|0.33371	0.131000|0.131000	0.15870|0.15870	0.036000|0.036000	0.15547|0.15547	-0.797000|-0.797000	0.03246|0.03246	GCC|GAG		0.383	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		10	147	1	0	5.50884e-06	1	5.65664e-06	10	147				
KLHL40	131377	broad.mit.edu	37	3	42727236	42727236	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42727236C>T	ENST00000287777.4	+	1	226	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGGGCGAGCGCGAGTTCCCGT	0.682																																						ENST00000287777.4																			0											c.(124-126)cgC>cgT		kelch-like family member 40							38.0	31.0	33.0					3																	42727236		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42727236C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.126C>T	3.37:g.42727236C>T							p.R42R	NM_152393.2	NP_689606.2					1	226	+								Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.126C>T	CCDS2703.1																																																																																				0.682	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		45	180	0	0	0	1	0	45	180				
SPG11	80208	broad.mit.edu	37	15	44951421	44951421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44951421G>A	ENST00000261866.7	-	3	539	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y|SPG11_ENST00000427534.2_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y|SPG11_ENST00000535302.2_Missense_Mutation_p.H175Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	175					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AATATAATATGTAGGATGACA	0.368																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(523-525)Cat>Tat		spastic paraplegia 11 (autosomal recessive)							104.0	103.0	104.0					15																	44951421		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44951421G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.523C>T	15.37:g.44951421G>A	ENSP00000261866:p.His175Tyr					SPG11_ENST00000535302.2_Missense_Mutation_p.H175Y|SPG11_ENST00000427534.2_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y|SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y	p.H175Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	3	539	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	175					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.523C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483901	0.26598	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78126	-1.15;-0.89;-0.89	5.99	4.13	0.48395	.	0.589894	0.18157	N	0.149885	T	0.75064	0.3799	L	0.55481	1.735	0.09310	N	1	P;P;P;P	0.45827	0.776;0.787;0.867;0.467	B;B;B;B	0.44044	0.306;0.419;0.439;0.244	T	0.67245	-0.5719	10	0.66056	D	0.02	.	11.0246	0.47739	0.1441:0.0:0.8559:0.0	.	175;175;175;175	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	Y	175	ENSP00000261866:H175Y;ENSP00000445278:H175Y;ENSP00000396110:H175Y	ENSP00000261866:H175Y	H	-	1	0	SPG11	42738713	0.115000	0.22152	0.004000	0.12327	0.031000	0.12232	1.881000	0.39638	0.890000	0.36211	-0.156000	0.13503	CAT		0.368	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			10	359	0	0	0	1	0	10	359				
TIMP3	7078	broad.mit.edu	37	22	33255181	33255181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33255181C>T	ENST00000266085.6	+	5	754	c.453C>T	c.(451-453)taC>taT	p.Y151Y	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	151	Mediates interaction with EFEMP1.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AGTCCTGCTACTACCTGCCTT	0.532																																						ENST00000266085.6																			0				endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(451-453)taC>taT		TIMP metallopeptidase inhibitor 3							132.0	117.0	122.0					22																	33255181		2203	4300	6503	SO:0001819	synonymous_variant	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255181C>T		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.453C>T	22.37:g.33255181C>T						SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	p.Y151Y	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN			5	754	+			151			Mediates interaction with EFEMP1.		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	ENST00000266085.6	37	c.453C>T	CCDS13911.1																																																																																				0.532	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		68	374	0	0	0	1	0	68	374				
BDP1	55814	broad.mit.edu	37	5	70806004	70806004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70806004A>G	ENST00000358731.4	+	17	3348	c.3085A>G	c.(3085-3087)Att>Gtt	p.I1029V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1029	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACCAGAGGTGATTGATGCTAC	0.463																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3085-3087)Att>Gtt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							74.0	75.0	75.0					5																	70806004		1848	4090	5938	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806004A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3085A>G	5.37:g.70806004A>G	ENSP00000351575:p.Ile1029Val					BDP1_ENST00000380675.2_5'UTR	p.I1029V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3348	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1029			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3085A>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	a	4.020	0.001130	0.07819	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.16073	2.37	3.49	-0.314	0.12750	.	2.027030	0.03609	U	0.234518	T	0.08088	0.0202	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.14012	0.003;0.009;0.009	B;B;B	0.11329	0.003;0.006;0.002	T	0.24977	-1.0145	10	0.10377	T	0.69	.	2.3315	0.04237	0.5163:0.0:0.2502:0.2335	.	1029;1029;1029	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	1029;609	ENSP00000351575:I1029V	ENSP00000351575:I1029V	I	+	1	0	BDP1	70841760	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.139000	0.10358	-0.058000	0.13177	0.260000	0.18958	ATT		0.463	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		95	420	0	0	0	1	0	95	420				
AMMECR1L	83607	broad.mit.edu	37	2	128628468	128628468	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128628468G>T	ENST00000272647.5	-	5	813	c.553C>A	c.(553-555)Cga>Aga	p.R185R	AMMECR1L_ENST00000393001.1_Silent_p.R185R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	185	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.R185*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AGCTCCTCTCGGGTCAGGGGG	0.532																																						ENST00000272647.5																			1	Substitution - Nonsense(1)	p.R185*(1)	large_intestine(1)	central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(553-555)Cga>Aga		AMMECR1-like							46.0	44.0	45.0					2																	128628468		2203	4300	6503	SO:0001819	synonymous_variant	83607							g.chr2:128628468G>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.553C>A	2.37:g.128628468G>T						AMMECR1L_ENST00000393001.1_Silent_p.R185R	p.R185R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	5	813	-	Colorectal(110;0.1)		185			AMMECR1.		B4E276	Silent	SNP	ENST00000272647.5	37	c.553C>A	CCDS2152.1																																																																																				0.532	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		7	170	1	0	2.0095e-06	1	2.07161e-06	7	170				
CSMD1	64478	broad.mit.edu	37	8	3087562	3087562	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3087562C>A	ENST00000520002.1	-	28	4903	c.4348G>T	c.(4348-4350)Gct>Tct	p.A1450S	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Splice_Site_p.A1449S|CSMD1_ENST00000602557.1_Splice_Site_p.A1450S|CSMD1_ENST00000537824.1_Splice_Site_p.A1449S|CSMD1_ENST00000602723.1_Splice_Site_p.A1450S|CSMD1_ENST00000400186.3_Splice_Site_p.A1450S|CSMD1_ENST00000539096.1_Splice_Site_p.A1449S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1450	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.A1449S(1)|p.A1178S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTGATACCTATGCATGTA	0.418																																						ENST00000602557.1																			2	Substitution - Missense(2)	p.A1449S(1)|p.A1178S(1)	lung(2)	breast(20)|large_intestine(5)	25						c.e28+1		CUB and Sushi multiple domains 1							89.0	84.0	86.0					8																	3087562		1885	4117	6002	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:3087562C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4348+1G>T	8.37:g.3087562C>A						CSMD1_ENST00000539096.1_Splice_Site_p.A1449_splice|CSMD1_ENST00000602723.1_Splice_Site_p.A1450_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A1450_splice|CSMD1_ENST00000537824.1_Splice_Site_p.A1449_splice|CSMD1_ENST00000520002.1_Splice_Site_p.A1450_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A1449_splice|CSMD1_ENST00000523387.1_5'UTR	p.A1450_splice			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	28	4903	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1450			Sushi 8.		Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37	c.4348_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502771|4.502771	0.85176|0.85176	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.25749|.	1.78;1.78;1.78;1.78;1.78|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.78078|0.78078	0.4227|0.4227	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	D;P;P|.	0.65815|.	0.995;0.735;0.931|.	D;B;P|.	0.73380|.	0.98;0.208;0.872|.	T|T	0.75479|0.75479	-0.3303|-0.3303	9|5	.|.	.|.	.|.	.|.	20.4192|20.4192	0.99033|0.99033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1450;1450;1450|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|I	1450;1450;1312;1449;1449;1449|929	ENSP00000383047:A1450S;ENSP00000430733:A1450S;ENSP00000441462:A1449S;ENSP00000446243:A1449S;ENSP00000441675:A1449S|.	.|.	A|S	-|-	1|2	0|0	CSMD1|CSMD1	3074969|3074969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.294000|0.294000	0.27393|0.27393	7.634000|7.634000	0.83273|0.83273	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Missense_Mutation	42	257	1	0	4.00472e-15	1	4.3668e-15	42	257				
ZNF628	89887	broad.mit.edu	37	19	55994536	55994536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994536G>A	ENST00000598519.1	+	3	2529	c.1976G>A	c.(1975-1977)gGc>gAc	p.G659D	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.G655D			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	659	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTGCCGCCGGCCCCCAGCCC	0.726																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1963-1965)gGc>gAc		zinc finger protein 628							3.0	4.0	4.0					19																	55994536		1914	3831	5745	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994536G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1976G>A	19.37:g.55994536G>A	ENSP00000469591:p.Gly659Asp					ZNF628_ENST00000598519.1_Missense_Mutation_p.G659D	p.G655D			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2529	+	Breast(117;0.155)		655			Pro-rich.		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.1964G>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	11.98	1.800170	0.31869	.	.	ENSG00000197483	ENST00000391718	T	0.02974	4.09	2.47	-0.112	0.13572	.	1.492050	0.05145	U	0.494924	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.21546	0.035	T	0.46762	-0.9168	10	0.62326	D	0.03	-1.864	4.449	0.11611	0.0:0.3508:0.4254:0.2238	.	655	Q5EBL2	ZN628_HUMAN	D	655	ENSP00000375598:G655D	ENSP00000375598:G655D	G	+	2	0	ZNF628	60686348	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.216000	0.32443	0.070000	0.16634	-0.314000	0.08810	GGC		0.726	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		15	48	0	0	0	1	0	15	48				
GTF2IRD1	9569	broad.mit.edu	37	7	73922483	73922483	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73922483A>G	ENST00000265755.3	+	2	466	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	25					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCGCGTTCACCCGCAAAGA	0.647																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(73-75)Acc>Gcc		GTF2I repeat domain containing 1							118.0	88.0	98.0					7																	73922483		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73922483A>G	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.73A>G	7.37:g.73922483A>G	ENSP00000265755:p.Thr25Ala					GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A	p.T25A			Q9UHL9	GT2D1_HUMAN			2	1764	+			25					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.73A>G	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	A	6.080	0.383092	0.11524	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.27720	1.66;1.65;1.66;1.65	4.57	-9.15	0.00698	.	0.620792	0.14960	N	0.288424	T	0.06416	0.0165	N	0.02011	-0.69	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.13656	-1.0501	10	0.23891	T	0.37	-5.8659	2.0117	0.03489	0.5072:0.14:0.1851:0.1676	.	25;25;25;25	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	A	25	ENSP00000265755:T25A;ENSP00000397566:T25A;ENSP00000408477:T25A;ENSP00000418383:T25A	ENSP00000265755:T25A	T	+	1	0	GTF2IRD1	73560419	0.024000	0.19004	0.049000	0.19019	0.725000	0.41563	-0.315000	0.08081	-1.829000	0.01201	-0.441000	0.05720	ACC		0.647	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		49	232	0	0	0	1	0	49	232				
KIAA1549	57670	broad.mit.edu	37	7	138591671	138591671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138591671C>T	ENST00000422774.1	-	6	3502	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1152T			Q9HCM3	K1549_HUMAN	KIAA1549	1152						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACGCTCTGCGATCTGCAGC	0.473			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(3454-3456)Gca>Aca		KIAA1549							72.0	72.0	72.0					7																	138591671		2003	4162	6165	SO:0001583	missense	57670					integral to membrane		g.chr7:138591671C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3454G>A	7.37:g.138591671C>T	ENSP00000416040:p.Ala1152Thr					KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1152T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T	p.A1152T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			6	3502	-			1152					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3454G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309989	0.81247	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.69561	-0.4;-0.38;-0.41	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85152	0.0987	10	0.87932	D	0	.	17.8527	0.88752	0.0:1.0:0.0:0.0	.	1152;1152	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	1152;1102;1152	ENSP00000406661:A1152T;ENSP00000242365:A1102T;ENSP00000416040:A1152T	ENSP00000242365:A1102T	A	-	1	0	KIAA1549	138242211	1.000000	0.71417	0.785000	0.31869	0.310000	0.27922	7.291000	0.78721	2.683000	0.91414	0.655000	0.94253	GCA		0.473	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			45	222	0	0	0	1	0	45	222				
ATM	472	broad.mit.edu	37	11	108225552	108225552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108225552C>T	ENST00000452508.2	+	62	8990	c.8801C>T	c.(8800-8802)aCc>aTc	p.T2934I	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2934I|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2934	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTGAGAAAACCATGGAAGTG	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8800-8802)aCc>aTc	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							186.0	195.0	192.0					11																	108225552		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108225552C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8801C>T	11.37:g.108225552C>T	ENSP00000388058:p.Thr2934Ile	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.T2934I|C11orf65_ENST00000525729.1_Intron	p.T2934I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	61	9186	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2934			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8801C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033991	0.93575	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73363	-0.74;-0.74	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87184	0.6114	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86991	0.2110	10	0.54805	T	0.06	.	19.8745	0.96864	0.0:1.0:0.0:0.0	.	2934	Q13315	ATM_HUMAN	I	2934	ENSP00000278616:T2934I;ENSP00000388058:T2934I	ENSP00000278616:T2934I	T	+	2	0	ATM	107730762	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.789000	0.85783	2.704000	0.92352	0.467000	0.42956	ACC		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		92	523	0	0	0	1	0	92	523				
NUDT6	11162	broad.mit.edu	37	4	123813399	123813399	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123813399C>T	ENST00000304430.5	-	0	1169				FGF2_ENST00000608478.1_Nonsense_Mutation_p.R106*|NUDT6_ENST00000608639.1_Intron|FGF2_ENST00000264498.3_Nonsense_Mutation_p.R239*	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6							mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CTTTTTTGAACGATTGGAATC	0.313																																						ENST00000264498.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8						c.(715-717)Cga>Tga		fibroblast growth factor 2 (basic)	Pentosan Polysulfate(DB00686)						103.0	105.0	104.0					4																	123813399		2203	4300	6503	SO:0001628	intergenic_variant	2247				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	g.chr4:123813399C>T	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507		4.37:g.123813399C>T							p.R239*	NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN			3	783	+			239					A8K756|O95097|Q9UQD9	Nonsense_Mutation	SNP	ENST00000304430.5	37	c.715C>T	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674484	0.96764	.	.	ENSG00000138685	ENST00000264498	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	239	.	ENSP00000264498:R239X	R	+	1	2	FGF2	124032849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.910000	0.56371	2.729000	0.93468	0.650000	0.86243	CGA		0.313	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		73	442	0	0	0	1	0	73	442				
COL5A3	50509	broad.mit.edu	37	19	10114292	10114292	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10114292C>A	ENST00000264828.3	-	6	883	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	266	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTTCCTTGTTCTTTTTCCTGC	0.577											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(796-798)aaG>aaT		collagen, type V, alpha 3							265.0	196.0	220.0					19																	10114292		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114292C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.798G>T	19.37:g.10114292C>A	ENSP00000264828:p.Lys266Asn		OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662		p.K266N	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		6	883	-			266			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.798G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	7.743	0.701652	0.15172	.	.	ENSG00000080573	ENST00000264828	D	0.90069	-2.61	4.08	-0.41	0.12374	.	1.705140	0.03235	N	0.179441	D	0.90480	0.7018	L	0.52573	1.65	0.26607	N	0.972915	D	0.71674	0.998	D	0.73708	0.981	T	0.77156	-0.2691	10	0.18276	T	0.48	.	3.327	0.07071	0.0:0.4355:0.2062:0.3584	.	266	P25940	CO5A3_HUMAN	N	266	ENSP00000264828:K266N	ENSP00000264828:K266N	K	-	3	2	COL5A3	9975292	0.995000	0.38212	0.995000	0.50966	0.530000	0.34684	-0.000000	0.12993	0.132000	0.18615	-0.382000	0.06688	AAG		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		68	318	1	0	2.69673e-31	1	3.17273e-31	68	318				
DDX43	55510	broad.mit.edu	37	6	74104604	74104604	+	5'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74104604G>A	ENST00000370336.4	+	0	134				snoU13_ENST00000459178.1_RNA|DDX43_ENST00000539829.1_5'UTR|OOEP_ENST00000370363.1_De_novo_Start_InFrame	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43						ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGCAACGACGTCGGACGCGC	0.632																																						ENST00000370363.1																			0				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8								oocyte expressed protein							38.0	41.0	40.0					6																	74104604		2203	4300	6503	SO:0001623	5_prime_UTR_variant	441161					cytoplasm		g.chr6:74104604G>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.-25G>A	6.37:g.74104604G>A						DDX43_ENST00000370336.4_5'UTR|DDX43_ENST00000539829.1_5'UTR				A6NGQ2	OOEP_HUMAN			0	212	-								B4E0C8|Q6NXR1	Translation_Start_Site	SNP	ENST00000370336.4	37		CCDS4977.1																																																																																				0.632	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		67	261	0	0	0	1	0	67	261				
DHCR7	1717	broad.mit.edu	37	11	71148891	71148891	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71148891G>T	ENST00000355527.3	-	8	1206	c.930C>A	c.(928-930)gaC>gaA	p.D310E	DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	310					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GCCAGACACAGTCGCCCCAGC	0.557									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(928-930)gaC>gaA		7-dehydrocholesterol reductase	NADH(DB00157)						86.0	79.0	81.0					11																	71148891		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71148891G>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.930C>A	11.37:g.71148891G>T	ENSP00000347717:p.Asp310Glu					DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			8	1206	-			310					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.930C>A	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040308|4.040308	0.75732|0.75732	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000533800;ENST00000525137|ENST00000534795	D;D;D;D|.	0.98381|.	-4.9;-4.9;-4.9;-4.9|.	4.57|4.57	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.91300|0.91300	3.195|3.195	0.51012|0.51012	D|D	0.999908|0.999908	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.74262|0.74262	-0.3722|-0.3722	10|5	0.52906|.	T|.	0.07|.	-43.5291|-43.5291	6.1902|6.1902	0.20520|0.20520	0.328:0.0:0.672:0.0|0.328:0.0:0.672:0.0	.|.	310|.	Q9UBM7|.	DHCR7_HUMAN|.	E|M	310;310;60;99|96	ENSP00000384739:D310E;ENSP00000347717:D310E;ENSP00000435011:D60E;ENSP00000435956:D99E|.	ENSP00000347717:D310E|.	D|L	-|-	3|1	2|2	DHCR7|DHCR7	70826539|70826539	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.767000|0.767000	0.43475|0.43475	2.734000|2.734000	0.47368|0.47368	0.360000|0.360000	0.24265|0.24265	0.561000|0.561000	0.74099|0.74099	GAC|CTG		0.557	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		28	328	1	0	7.01153e-11	1	7.45501e-11	28	328				
PALB2	79728	broad.mit.edu	37	16	23649187	23649187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23649187C>T	ENST00000261584.4	-	3	347	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	65	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTTTTAGCTGCGGTGAGAGAT	0.388			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(193-195)ccG>ccA	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							174.0	164.0	168.0					16																	23649187		2197	4300	6497	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23649187C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.195G>A	16.37:g.23649187C>T							p.P65P	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	3	347	-			65			Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.195G>A	CCDS32406.1																																																																																				0.388	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		84	313	0	0	0	1	0	84	313				
ZC3HC1	51530	broad.mit.edu	37	7	129680929	129680929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129680929C>T	ENST00000358303.4	-	3	355	c.271G>A	c.(271-273)Gca>Aca	p.A91T	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A91T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	91					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GGCTTACCTGCCCATTTCAAA	0.408																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(271-273)Gca>Aca		zinc finger, C3HC-type containing 1							161.0	158.0	159.0					7																	129680929		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129680929C>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.271G>A	7.37:g.129680929C>T	ENSP00000351052:p.Ala91Thr					ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A91T|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T	p.A91T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN			3	355	-	Melanoma(18;0.0435)		91					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.271G>A	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337788	0.81911	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.43294	1.54;0.99;1.55;0.95	5.8	5.8	0.92144	Zinc finger, C3HC-like (1);	0.412542	0.25695	N	0.028910	T	0.48352	0.1495	L	0.45581	1.43	0.80722	D	1	P	0.48998	0.918	P	0.51297	0.665	T	0.17289	-1.0374	10	0.14656	T	0.56	-5.7662	18.6258	0.91338	0.0:1.0:0.0:0.0	.	91	Q86WB0	NIPA_HUMAN	T	91;91;70;91;91	ENSP00000351052:A91T;ENSP00000353933:A91T;ENSP00000309301:A70T;ENSP00000418533:A91T	ENSP00000309301:A70T	A	-	1	0	ZC3HC1	129468165	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.335000	0.65929	2.730000	0.93505	0.563000	0.77884	GCA		0.408	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		161	611	0	0	0	1	0	161	611				
ARPC5L	81873	broad.mit.edu	37	9	127639172	127639172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127639172G>A	ENST00000353214.2	+	6	1667	c.415G>A	c.(415-417)Gga>Aga	p.G139R	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	139					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						AGCAGTAGGAGGACTAGGCTC	0.483																																						ENST00000353214.2																			0				large_intestine(2)|lung(1)	3						c.(415-417)Gga>Aga		actin related protein 2/3 complex, subunit 5-like							95.0	78.0	84.0					9																	127639172		2203	4300	6503	SO:0001583	missense	81873				regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr9:127639172G>A	AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.415G>A	9.37:g.127639172G>A	ENSP00000345361:p.Gly139Arg					ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R	p.G139R			Q9BPX5	ARP5L_HUMAN			6	1667	+			139					Q7Z523	Missense_Mutation	SNP	ENST00000353214.2	37	c.415G>A	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599791	0.87055	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89478	0.3748	9	0.87932	D	0	-13.7536	14.1836	0.65590	0.0713:0.0:0.9287:0.0	.	139	Q9BPX5	ARP5L_HUMAN	R	139	.	ENSP00000259477:G139R	G	+	1	0	ARPC5L	126678993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.117000	0.94347	1.520000	0.48965	0.655000	0.94253	GGA		0.483	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978		49	203	0	0	0	1	0	49	203				
PRKCSH	5589	broad.mit.edu	37	19	11557939	11557939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11557939C>T	ENST00000589838.1	+	9	813	c.813C>T	c.(811-813)cgC>cgT	p.R271R	PRKCSH_ENST00000587327.1_Silent_p.R271R|PRKCSH_ENST00000252455.2_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000412601.1_Silent_p.R271R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	271	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCTACGACCGCGTCTGGGCCG	0.637											OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(811-813)cgC>cgT		protein kinase C substrate 80K-H							91.0	76.0	81.0					19																	11557939		2203	4300	6503	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11557939C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.813C>T	19.37:g.11557939C>T			OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	PRKCSH_ENST00000412601.1_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000589838.1_Silent_p.R271R|PRKCSH_ENST00000587327.1_Silent_p.R271R	p.R271R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			10	1149	+			271			EF-hand 2.		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.813C>T	CCDS32911.1																																																																																				0.637	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			72	282	0	0	0	1	0	72	282				
ADAMTS16	170690	broad.mit.edu	37	5	5232600	5232600	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5232600T>A	ENST00000274181.7	+	12	1959	c.1821T>A	c.(1819-1821)tcT>tcA	p.S607S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	607	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGGAGTATCTCATAGGAGTC	0.557																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1819-1821)tcT>tcA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							99.0	113.0	108.0					5																	5232600		2170	4268	6438	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5232600T>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1821T>A	5.37:g.5232600T>A							p.S607S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			12	1959	+			607			TSP type-1 1.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1821T>A	CCDS43299.1																																																																																				0.557	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		100	470	0	0	0	1	0	100	470				
CYP4A22	284541	broad.mit.edu	37	1	47610579	47610579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47610579C>T	ENST00000371891.3	+	9	1190	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	387						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCACCGGTGCCAGGCATTGG	0.557																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1159-1161)Cca>Tca		cytochrome P450, family 4, subfamily A, polypeptide 22							114.0	93.0	100.0					1																	47610579		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610579C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1159C>T	1.37:g.47610579C>T	ENSP00000360958:p.Pro387Ser					CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S	p.P387S	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			9	1190	+			387					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1159C>T	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	15.95	2.985172	0.53934	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.73047	-0.63;-0.71;-0.71	1.51	1.51	0.23008	.	0.049915	0.85682	D	0.000000	T	0.78188	0.4244	M	0.78049	2.395	0.40862	D	0.983847	B;B	0.29671	0.236;0.254	P;B	0.48304	0.573;0.438	T	0.79249	-0.1881	10	0.87932	D	0	.	8.7264	0.34471	0.226:0.7739:0.0:0.0	.	289;387	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	S	289;387;387	ENSP00000360957:P289S;ENSP00000360958:P387S;ENSP00000294337:P387S	ENSP00000294337:P387S	P	+	1	0	CYP4A22	47383166	0.674000	0.27549	0.015000	0.15790	0.465000	0.32709	2.614000	0.46359	0.842000	0.35045	0.194000	0.17425	CCA		0.557	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		57	166	0	0	0	1	0	57	166				
ZNF770	54989	broad.mit.edu	37	15	35275451	35275451	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275451T>C	ENST00000356321.4	-	3	529	c.185A>G	c.(184-186)aAa>aGa	p.K62R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	62					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTAAAGGTTTTATGACACAC	0.348																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(184-186)aAa>aGa		zinc finger protein 770							76.0	74.0	75.0					15																	35275451		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275451T>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.185A>G	15.37:g.35275451T>C	ENSP00000348673:p.Lys62Arg						p.K62R	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	529	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	62					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.185A>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236829	0.58886	.	.	ENSG00000198146	ENST00000356321	T	0.26223	1.75	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.42063	0.1186	L	0.39245	1.2	0.42829	D	0.994015	D	0.76494	0.999	D	0.87578	0.998	T	0.34054	-0.9844	10	0.66056	D	0.02	-12.231	14.0763	0.64891	0.0:0.0:0.0:1.0	.	62	Q6IQ21	ZN770_HUMAN	R	62	ENSP00000348673:K62R	ENSP00000348673:K62R	K	-	2	0	ZNF770	33062743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.962000	0.70364	2.100000	0.63781	0.533000	0.62120	AAA		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		7	307	0	0	0	1	0	7	307				
RBBP9	10741	broad.mit.edu	37	20	18471048	18471048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18471048G>A	ENST00000337227.4	-	4	400	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	109					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CCACTTGCACGCTCATTTTCA	0.423																																						ENST00000337227.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						c.(325-327)Cgt>Tgt		retinoblastoma binding protein 9							160.0	144.0	150.0					20																	18471048		2203	4300	6503	SO:0001583	missense	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18471048G>A	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.325C>T	20.37:g.18471048G>A	ENSP00000336866:p.Arg109Cys					RBBP9_ENST00000493184.1_Intron	p.R109C	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN			4	400	-			109					D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	37	c.325C>T	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799256	0.70567	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	4.96	3.02	0.34903	.	0.290145	0.27554	N	0.018852	T	0.63510	0.2517	M	0.80847	2.515	0.52099	D	0.999947	D	0.71674	0.998	P	0.52454	0.699	T	0.63580	-0.6605	9	0.54805	T	0.06	-0.1625	4.8294	0.13432	0.1751:0.0:0.6562:0.1687	.	109	O75884	RBBP9_HUMAN	C	109	.	ENSP00000336866:R109C	R	-	1	0	RBBP9	18419048	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.344000	0.44010	0.803000	0.34113	0.655000	0.94253	CGT		0.423	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		60	248	0	0	0	1	0	60	248				
NCAM2	4685	broad.mit.edu	37	21	22849626	22849626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849626C>T	ENST00000400546.1	+	15	2160	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	NCAM2_ENST00000284894.7_Silent_p.D495D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	637	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATAAGGAAGACCAATGGCTAG	0.348																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1909-1911)gaC>gaT		neural cell adhesion molecule 2							84.0	79.0	81.0					21																	22849626		1832	4092	5924	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849626C>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1911C>T	21.37:g.22849626C>T						NCAM2_ENST00000284894.7_Silent_p.D495D	p.D637D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2160	+		Lung NSC(9;0.195)	637			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1911C>T	CCDS42910.1																																																																																				0.348	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		57	219	0	0	0	1	0	57	219				
USP16	10600	broad.mit.edu	37	21	30419159	30419159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419159G>A	ENST00000334352.4	+	15	1759	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000399976.2_Missense_Mutation_p.V510I|USP16_ENST00000535828.1_Missense_Mutation_p.V139I	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAATATTGTGTCAACCAGAA	0.333																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1528-1530)Gtc>Atc		ubiquitin specific peptidase 16							70.0	68.0	69.0					21																	30419159		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419159G>A	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1528G>A	21.37:g.30419159G>A	ENSP00000334808:p.Val510Ile					USP16_ENST00000535828.1_Missense_Mutation_p.V139I|USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000399976.2_Missense_Mutation_p.V510I	p.V510I	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			15	1759	+			510						Missense_Mutation	SNP	ENST00000334352.4	37	c.1528G>A	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	6.599	0.478861	0.12581	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.32272	3.4;3.39;3.39;1.46	5.08	0.955	0.19602	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.536420	0.03185	N	0.172530	T	0.14141	0.0342	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.31351	0.32;0.167;0.102;0.125	B;B;B;B	0.34301	0.179;0.085;0.086;0.14	T	0.19679	-1.0298	10	0.34782	T	0.22	.	5.4608	0.16615	0.322:0.0:0.5127:0.1653	.	139;495;509;510	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	I	509;510;510;139	ENSP00000382857:V509I;ENSP00000382858:V510I;ENSP00000334808:V510I;ENSP00000442855:V139I	ENSP00000334808:V510I	V	+	1	0	USP16	29341030	0.019000	0.18553	0.327000	0.25402	0.225000	0.24961	0.373000	0.20484	0.342000	0.23796	-0.749000	0.03505	GTC		0.333	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			26	272	0	0	0	1	0	26	272				
ELFN2	114794	broad.mit.edu	37	22	37771157	37771157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37771157C>T	ENST00000402918.2	-	3	1203	c.418G>A	c.(418-420)Gag>Aag	p.E140K	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	140					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTCACCACCTCGATGAGGTTG	0.637																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(418-420)Gag>Aag		extracellular leucine-rich repeat and fibronectin type III domain containing 2							93.0	87.0	89.0					22																	37771157		2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37771157C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.418G>A	22.37:g.37771157C>T	ENSP00000385277:p.Glu140Lys					ELFN2_ENST00000349653.3_Missense_Mutation_p.E140K|RP1-63G5.5_ENST00000430883.1_RNA	p.E140K	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1203	-	Melanoma(58;0.0574)		140					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.418G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197923	0.58126	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.52295	0.67;0.67	4.51	3.49	0.39957	.	0.056392	0.64402	D	0.000002	T	0.53351	0.1791	L	0.33293	1	0.58432	D	0.999997	D	0.69078	0.997	D	0.63283	0.913	T	0.56001	-0.8051	10	0.62326	D	0.03	-24.9669	12.7421	0.57259	0.0:0.9189:0.0:0.0811	.	140	Q5R3F8	PPR29_HUMAN	K	140	ENSP00000300147:E140K;ENSP00000385277:E140K	ENSP00000300147:E140K	E	-	1	0	ELFN2	36101103	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	7.709000	0.84645	1.042000	0.40150	-0.346000	0.07831	GAG		0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		117	480	0	0	0	1	0	117	480				
ADAMTS7	11173	broad.mit.edu	37	15	79059359	79059359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059359C>T	ENST00000388820.4	-	19	3104	c.2894G>A	c.(2893-2895)cGa>cAa	p.R965Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	965	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAGGACATTTCGGCGCTGAGT	0.662																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2893-2895)cGa>cAa		ADAM metallopeptidase with thrombospondin type 1 motif, 7							38.0	41.0	40.0					15																	79059359		2186	4270	6456	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059359C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2894G>A	15.37:g.79059359C>T	ENSP00000373472:p.Arg965Gln					ADAMTS7_ENST00000566303.1_5'UTR	p.R965Q	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3104	-			965			TSP type-1 4.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2894G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789121	0.70337	.	.	ENSG00000136378	ENST00000388820	T	0.80738	-1.41	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.92463	0.7607	H	0.94964	3.605	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	16.4908	0.84200	0.0:1.0:0.0:0.0	.	965	Q9UKP4	ATS7_HUMAN	Q	965	ENSP00000373472:R965Q	ENSP00000373472:R965Q	R	-	2	0	ADAMTS7	76846414	1.000000	0.71417	0.048000	0.18961	0.073000	0.16967	5.370000	0.66144	2.214000	0.71695	0.579000	0.79373	CGA		0.662	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		70	253	0	0	0	1	0	70	253				
PLEC	5339	broad.mit.edu	37	8	144997698	144997698	+	Silent	SNP	C	C	T	rs375489890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997698C>T	ENST00000322810.4	-	31	6979	c.6810G>A	c.(6808-6810)gcG>gcA	p.A2270A	PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000398774.2_Silent_p.A2101A|PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000357649.2_Silent_p.A2137A|PLEC_ENST00000436759.2_Silent_p.A2160A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000354958.2_Silent_p.A2111A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2270	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCTGCAGCCGCCTGTGCCT	0.736																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(6808-6810)gcG>gcA		plectin							8.0	10.0	10.0					8																	144997698		1961	4043	6004	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997698C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6810G>A	8.37:g.144997698C>T						PLEC_ENST00000357649.2_Silent_p.A2137A|PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000398774.2_Silent_p.A2101A|PLEC_ENST00000354958.2_Silent_p.A2111A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000436759.2_Silent_p.A2160A	p.A2270A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	6979	-			2270			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6810G>A	CCDS43772.1																																																																																				0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		28	131	0	0	0	1	0	28	131				
ZNRF1	84937	broad.mit.edu	37	16	75138699	75138699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75138699G>T	ENST00000335325.4	+	3	1180	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000320619.6_Missense_Mutation_p.D231Y	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	180					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						GCTGACTAAAGACGCGGGTGA	0.587																																						ENST00000335325.4																			0				breast(1)	1						c.(538-540)Gac>Tac		zinc and ring finger 1, E3 ubiquitin protein ligase							87.0	68.0	74.0					16																	75138699		2198	4300	6498	SO:0001583	missense	84937					cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding	g.chr16:75138699G>T	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.538G>T	16.37:g.75138699G>T	ENSP00000335091:p.Asp180Tyr					ZNRF1_ENST00000320619.6_Missense_Mutation_p.D231Y|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y	p.D180Y	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN			3	1180	+			180					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.538G>T	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880101	0.91740	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.52983	0.64	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);	0.045801	0.85682	D	0.000000	T	0.69495	0.3117	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.988;0.994	T	0.68398	-0.5419	10	0.87932	D	0	-16.4321	20.8794	0.99867	0.0:0.0:1.0:0.0	.	180;231;180	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	Y	231;180	ENSP00000335091:D180Y	ENSP00000323362:D231Y	D	+	1	0	ZNRF1	73696200	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	9.672000	0.98629	2.941000	0.99782	0.655000	0.94253	GAC		0.587	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			11	52	1	0	0.000978159	1	0.000988919	11	52				
SERPINB10	5273	broad.mit.edu	37	18	61600360	61600360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61600360G>T	ENST00000238508.3	+	7	771	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	238					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAAAGCAGTGGGCCTTCAACT	0.378																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(712-714)Ggc>Tgc		serpin peptidase inhibitor, clade B (ovalbumin), member 10							118.0	129.0	125.0					18																	61600360		2203	4300	6503	SO:0001583	missense	5273							g.chr18:61600360G>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.712G>T	18.37:g.61600360G>T	ENSP00000238508:p.Gly238Cys						p.G238C	NM_005024.1	NP_005015.1					7	771	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.712G>T	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520658	0.27211	.	.	ENSG00000242550	ENST00000238508	D	0.82619	-1.63	5.95	4.17	0.49024	Serpin domain (3);	0.332680	0.32703	N	0.005745	D	0.86456	0.5937	L	0.56124	1.755	0.09310	N	0.999995	D	0.76494	0.999	D	0.66716	0.946	T	0.77755	-0.2469	10	0.87932	D	0	.	8.3816	0.32474	0.285:0.0:0.715:0.0	.	238	P48595	SPB10_HUMAN	C	238	ENSP00000238508:G238C	ENSP00000238508:G238C	G	+	1	0	SERPINB10	59751340	0.124000	0.22315	0.240000	0.24138	0.009000	0.06853	1.407000	0.34657	1.539000	0.49286	-0.136000	0.14681	GGC		0.378	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		127	419	1	0	1.05862e-61	1	1.33344e-61	127	419				
KIAA1551	55196	broad.mit.edu	37	12	32137828	32137828	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32137828T>C	ENST00000312561.4	+	4	4353	c.3939T>C	c.(3937-3939)tcT>tcC	p.S1313S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1313																	TGACAGCATCTTATGAACAAG	0.348																																						ENST00000312561.4																			0											c.(3937-3939)tcT>tcC		KIAA1551							80.0	84.0	82.0					12																	32137828		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32137828T>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3939T>C	12.37:g.32137828T>C						KIAA1551_ENST00000535596.1_Intron	p.S1313S	NM_018169.3	NP_060639.3					4	4353	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.3939T>C	CCDS8725.2																																																																																				0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		88	369	0	0	0	1	0	88	369				
MON1A	84315	broad.mit.edu	37	3	49949310	49949310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49949310G>A	ENST00000417270.1	-	4	979	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MON1A_ENST00000455683.2_Intron|MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000296473.3_Missense_Mutation_p.R185C|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	88										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGATCTGGCGCATGTCTGTA	0.632																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(286-288)Cgc>Tgc		MON1 secretory trafficking family member A							45.0	45.0	45.0					3																	49949310		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49949310G>A	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.286C>T	3.37:g.49949310G>A	ENSP00000399613:p.Arg96Cys					MON1A_ENST00000455683.2_Intron|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.R185C|MON1A_ENST00000483022.1_5'UTR	p.R96C			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	979	-			88					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.286C>T		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959600	0.53400	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.39	4.48	0.54585	.	0.306900	0.36778	N	0.002413	T	0.34221	0.0890	L	0.36672	1.1	0.38329	D	0.943736	P	0.49635	0.926	B	0.39660	0.306	T	0.21965	-1.0230	8	.	.	.	-12.0067	10.1754	0.42935	0.0:0.2584:0.6243:0.1173	.	88	Q86VX9	MON1A_HUMAN	C	185;96	.	.	R	-	1	0	MON1A	49924314	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	3.524000	0.53495	2.517000	0.84864	0.561000	0.74099	CGC		0.632	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		58	342	0	0	0	1	0	58	342				
CNOT6L	246175	broad.mit.edu	37	4	78695823	78695823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78695823T>G	ENST00000504123.1	-	3	305	c.175A>C	c.(175-177)Aca>Cca	p.T59P	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	59	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCAGCGCTGTCAAGTGTGTC	0.428																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(175-177)Aca>Cca		CCR4-NOT transcription complex, subunit 6-like							87.0	82.0	83.0					4																	78695823		1969	4180	6149	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78695823T>G	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.175A>C	4.37:g.78695823T>G	ENSP00000424896:p.Thr59Pro					CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P|CNOT6L_ENST00000506166.1_5'UTR	p.T59P			Q96LI5	CNO6L_HUMAN			3	305	-			59					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.175A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.459601|4.459601	0.84317|0.84317	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	.|T;T;T;T	.|0.59224	.|0.28;0.28;0.28;0.28	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72252|0.72252	0.3437|0.3437	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.75761|0.75761	-0.3204|-0.3204	5|10	.|0.72032	.|D	.|0.01	-14.9073|-14.9073	13.7427|13.7427	0.62857|0.62857	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|59;59	.|B4E2S0;Q96LI5	.|.;CNO6L_HUMAN	A|P	87|59;59;66;59	.|ENSP00000424896:T59P;ENSP00000264903:T59P;ENSP00000425571:T66P;ENSP00000426269:T59P	.|ENSP00000264903:T59P	D|T	-|-	2|1	0|0	CNOT6L|CNOT6L	78914847|78914847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.946000|7.946000	0.87746|0.87746	1.685000|1.685000	0.51034|0.51034	0.459000|0.459000	0.35465|0.35465	GAC|ACA		0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			28	152	0	0	0	1	0	28	152				
H2AFZ	3015	broad.mit.edu	37	4	100870520	100870520	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870520T>C	ENST00000296417.5	-	3	322	c.105A>G	c.(103-105)cgA>cgG	p.R35R	DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	35					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		ATTTTAGGTGTCGATGAATAC	0.483											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(103-105)cgA>cgG		H2A histone family, member Z							60.0	60.0	60.0					4																	100870520		2203	4300	6503	SO:0001819	synonymous_variant	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870520T>C	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.105A>G	4.37:g.100870520T>C			OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	H2AFZ_ENST00000529158.1_5'UTR	p.R35R	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	3	322	-			35					B2RD56|P17317|Q6I9U0	Silent	SNP	ENST00000296417.5	37	c.105A>G	CCDS3654.1																																																																																				0.483	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		25	186	0	0	0	1	0	25	186				
TANC1	85461	broad.mit.edu	37	2	160043449	160043449	+	Missense_Mutation	SNP	C	C	A	rs367631474		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160043449C>A	ENST00000263635.6	+	16	2893	c.2656C>A	c.(2656-2658)Ctc>Atc	p.L886I	TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	886					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAAGCCATCTCCAAGCCCT	0.537																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2656-2658)Ctc>Atc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							72.0	71.0	71.0					2																	160043449		1924	4115	6039	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160043449C>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2656C>A	2.37:g.160043449C>A	ENSP00000263635:p.Leu886Ile					TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	p.L886I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			16	2893	+			886					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2656C>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218434	0.95104	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.75367	-0.89;-0.93	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.985	D;D;P	0.83275	0.991;0.996;0.808	D	0.86007	0.1498	10	0.72032	D	0.01	.	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	878;780;886	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	I	780;886	ENSP00000396339:L780I;ENSP00000263635:L886I	ENSP00000263635:L886I	L	+	1	0	TANC1	159751695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	2.861000	0.98227	0.655000	0.94253	CTC		0.537	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			59	230	1	0	9.07738e-34	1	1.07712e-33	59	230				
NUMBL	9253	broad.mit.edu	37	19	41173718	41173718	+	Silent	SNP	C	C	T	rs370985786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173718C>T	ENST00000252891.4	-	10	1652	c.1485G>A	c.(1483-1485)ccG>ccA	p.P495P	NUMBL_ENST00000540131.1_Silent_p.P454P|NUMBL_ENST00000598779.1_Silent_p.P454P	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	495					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGCCCAAGCCCGGGTAGGCGG	0.687																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1483-1485)ccG>ccA		numb homolog (Drosophila)-like				0,4114		0,0,2057	6.0	6.0	6.0		1485	-8.6	0.2	19		6	9,8229		0,9,4110	no	coding-synonymous	NUMBL	NM_004756.3		0,9,6167	TT,TC,CC		0.1092,0.0,0.0729		495/610	41173718	9,12343	2057	4119	6176	SO:0001819	synonymous_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41173718C>T	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1485G>A	19.37:g.41173718C>T						NUMBL_ENST00000540131.1_Silent_p.P454P|NUMBL_ENST00000598779.1_Silent_p.P454P	p.P495P	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1652	-			495					Q7Z4J9	Silent	SNP	ENST00000252891.4	37	c.1485G>A	CCDS12561.1																																																																																				0.687	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		13	49	0	0	0	1	0	13	49				
CHRDL2	25884	broad.mit.edu	37	11	74417568	74417568	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74417568C>T	ENST00000376332.3	-	6	1042	c.546G>A	c.(544-546)tcG>tcA	p.S182S	CHRDL2_ENST00000263671.5_Silent_p.S182S|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	182					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTCTTCATCCGATTGCTCAC	0.602																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(544-546)tcG>tcA		chordin-like 2							171.0	132.0	145.0					11																	74417568		2200	4293	6493	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74417568C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.546G>A	11.37:g.74417568C>T						CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.S182S	p.S182S	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			6	1042	-	Hepatocellular(1;0.098)		182					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.546G>A																																																																																					0.602	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			58	326	0	0	0	1	0	58	326				
DNAH17	8632	broad.mit.edu	37	17	76458993	76458993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76458993G>A	ENST00000585328.1	-	57	9216	c.9092C>T	c.(9091-9093)aCg>aTg	p.T3031M	DNAH17_ENST00000389840.5_Missense_Mutation_p.T3022M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3022	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACAAGTTCCGTTCTCTTCTT	0.557																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9064-9066)aCg>aTg		dynein, axonemal, heavy chain 17							147.0	135.0	139.0					17																	76458993		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76458993G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9092C>T	17.37:g.76458993G>A	ENSP00000465516:p.Thr3031Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.T3031M|DNAH17_ENST00000586052.1_5'UTR	p.T3022M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9189	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9065C>T		.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043442	0.07452	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.39997	1.05	5.04	-3.41	0.04839	.	0.538280	0.17352	N	0.177358	T	0.27169	0.0666	L	0.52266	1.64	0.19300	N	0.999972	B	0.16396	0.017	B	0.14578	0.011	T	0.13388	-1.0511	10	0.44086	T	0.13	.	2.5082	0.04650	0.3344:0.252:0.3156:0.0981	.	3031	E7EUM8	.	M	3031;3022	ENSP00000374490:T3022M	ENSP00000300671:T3031M	T	-	2	0	DNAH17	73970588	0.000000	0.05858	0.315000	0.25238	0.055000	0.15305	-1.529000	0.02223	-0.638000	0.05509	-1.281000	0.01382	ACG		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		52	238	0	0	0	1	0	52	238				
GALNT10	55568	broad.mit.edu	37	5	153795488	153795488	+	Missense_Mutation	SNP	G	G	A	rs145995359	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153795488G>A	ENST00000297107.6	+	11	1786	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	GALNT10_ENST00000377661.2_Missense_Mutation_p.R488H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	550	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGGAAATACCGCAAAGTAAGA	0.507																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1648-1650)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)		G	HIS/ARG	3,4403	8.1+/-20.4	0,3,2200	75.0	70.0	72.0		1649	5.6	1.0	5	dbSNP_134	72	0,8600		0,0,4300	yes	missense	GALNT10	NM_198321.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	550/604	153795488	3,13003	2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153795488G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1649G>A	5.37:g.153795488G>A	ENSP00000297107:p.Arg550His					GALNT10_ENST00000377661.2_Missense_Mutation_p.R488H|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA	p.R550H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		11	1786	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	550			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1649G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056003	0.76074	6.81E-4	0.0	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.27720	1.65;1.65;1.65	5.6	5.6	0.85130	Ricin B-related lectin (1);Ricin B lectin (3);	0.168500	0.52532	D	0.000071	T	0.53061	0.1773	L	0.60455	1.87	0.58432	D	0.999996	D;D;D	0.69078	0.997;0.961;0.957	D;B;B	0.66847	0.947;0.287;0.263	T	0.47598	-0.9105	10	0.48119	T	0.1	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	488;221;550	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	H	550;488;223	ENSP00000297107:R550H;ENSP00000366889:R488H;ENSP00000366885:R223H	ENSP00000297107:R550H	R	+	2	0	GALNT10	153775681	1.000000	0.71417	0.961000	0.40146	0.889000	0.51656	7.375000	0.79646	2.627000	0.88993	0.655000	0.94253	CGC		0.507	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		15	354	0	0	0	1	0	15	354				
IFNAR1	3454	broad.mit.edu	37	21	34725173	34725173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34725173G>T	ENST00000270139.3	+	9	1405	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	418	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CTGAATAAAAGCAGTGTTTTT	0.328																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.(1252-1254)aGc>aTc		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						83.0	88.0	86.0					21																	34725173		2203	4300	6503	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34725173G>T		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1253G>T	21.37:g.34725173G>T	ENSP00000270139:p.Ser418Ile					IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I	p.S418I	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN			9	1405	+			418			Fibronectin type-III 3.		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.1253G>T	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088106	0.36855	.	.	ENSG00000142166	ENST00000416947;ENST00000270139	T;T	0.31769	1.48;1.48	5.38	4.39	0.52855	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.672052	0.15859	N	0.241111	T	0.52549	0.1741	M	0.73598	2.24	0.35803	D	0.823276	D	0.65815	0.995	D	0.68621	0.959	T	0.59144	-0.7509	10	0.35671	T	0.21	-9.2815	11.7482	0.51832	0.0:0.2872:0.7128:0.0	.	418	P17181	INAR1_HUMAN	I	349;418	ENSP00000395606:S349I;ENSP00000270139:S418I	ENSP00000270139:S418I	S	+	2	0	IFNAR1	33647043	0.998000	0.40836	0.909000	0.35828	0.041000	0.13682	1.209000	0.32357	0.982000	0.38575	0.585000	0.79938	AGC		0.328	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			39	383	1	0	6.99958e-10	1	7.39112e-10	39	383				
NCOR1	9611	broad.mit.edu	37	17	16075231	16075231	+	Missense_Mutation	SNP	C	C	A	rs376695361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16075231C>A	ENST00000268712.3	-	4	578	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	107	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGGTCGCTTCGATTCCA	0.483																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(319-321)aaG>aaT		nuclear receptor corepressor 1							92.0	78.0	83.0					17																	16075231		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16075231C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.321G>T	17.37:g.16075231C>A	ENSP00000268712:p.Lys107Asn					NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N|NCOR1_ENST00000395848.1_Intron	p.K107N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	4	578	-			107			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.321G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501099	0.26861	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.57436	0.4;1.06	5.81	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.995;0.996	T	0.65594	-0.6130	10	0.87932	D	0	-15.0086	8.382	0.32477	0.0:0.6346:0.0:0.3654	.	107;107;107;107;107;107	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	N	107	ENSP00000268712:K107N;ENSP00000379192:K107N	ENSP00000268712:K107N	K	-	3	2	NCOR1	16015956	0.999000	0.42202	0.342000	0.25602	0.745000	0.42441	0.576000	0.23744	0.384000	0.24942	-0.137000	0.14449	AAG		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		33	158	1	0	1.62565e-12	1	1.74646e-12	33	158				
USP25	29761	broad.mit.edu	37	21	17181187	17181187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181187G>A	ENST00000285679.6	+	8	1209	c.840G>A	c.(838-840)atG>atA	p.M280I	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.M280I|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000400183.2_Missense_Mutation_p.M280I	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	280	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCTTCCAAATGAAAGCTGAAG	0.343																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(838-840)atG>atA		ubiquitin specific peptidase 25							74.0	71.0	72.0					21																	17181187		2203	4299	6502	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17181187G>A	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.840G>A	21.37:g.17181187G>A	ENSP00000285679:p.Met280Ile					USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.M280I|USP25_ENST00000400183.2_Missense_Mutation_p.M280I|USP25_ENST00000547201.1_3'UTR	p.M280I			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	8	1209	+			280					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.840G>A	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903517	0.17760	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.29917	1.55;1.55;1.55	4.83	3.87	0.44632	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.257684	0.45126	D	0.000399	T	0.07369	0.0186	N	0.00656	-1.285	0.32912	D	0.514673	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.13335	-1.0513	10	0.22109	T	0.4	.	3.0751	0.06243	0.085:0.242:0.4095:0.2635	.	280;280;280	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	I	280	ENSP00000285681:M280I;ENSP00000285679:M280I;ENSP00000383044:M280I	ENSP00000285679:M280I	M	+	3	0	USP25	16103058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.166000	0.42406	2.380000	0.81148	0.591000	0.81541	ATG		0.343	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			27	159	0	0	0	1	0	27	159				
TIGD2	166815	broad.mit.edu	37	4	90034783	90034783	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90034783T>G	ENST00000317005.2	+	1	816	c.658T>G	c.(658-660)Tta>Gta	p.L220V	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	220	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCCACAGGTTTACACAAACT	0.423																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(658-660)Tta>Gta		tigger transposable element derived 2							73.0	76.0	75.0					4																	90034783		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034783T>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.658T>G	4.37:g.90034783T>G	ENSP00000317170:p.Leu220Val						p.L220V	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	816	+		Hepatocellular(203;0.114)	220			DDE.			Missense_Mutation	SNP	ENST00000317005.2	37	c.658T>G	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	t	8.260	0.811071	0.16537	.	.	ENSG00000180346	ENST00000317005	T	0.42513	0.97	3.97	2.79	0.32731	.	0.546237	0.13764	U	0.364393	T	0.28632	0.0709	L	0.27053	0.805	0.19575	N	0.999963	B	0.31655	0.334	B	0.37780	0.258	T	0.21280	-1.0250	10	0.30078	T	0.28	-0.4011	3.2543	0.06826	0.2038:0.1127:0.0:0.6836	.	220	Q4W5G0	TIGD2_HUMAN	V	220	ENSP00000317170:L220V	ENSP00000317170:L220V	L	+	1	2	TIGD2	90253806	0.983000	0.35010	0.997000	0.53966	0.983000	0.72400	0.723000	0.25939	0.602000	0.29896	0.446000	0.29264	TTA		0.423	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		63	303	0	0	0	1	0	63	303				
ABLIM3	22885	broad.mit.edu	37	5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	rs150488528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15585	0.0		0.0	False		,,,				2504	0.0					ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1099-1101)Cgg>Tgg		actin binding LIM protein family, member 3		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	70.0	76.0	74.0		1099	5.0	1.0	5	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABLIM3	NM_014945.2	101	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	probably-damaging	367/684	148619346	5,13001	2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148619346C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1099C>T	5.37:g.148619346C>T	ENSP00000425394:p.Arg367Trp					ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000522685.1_RNA	p.R367W			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1581	+			367					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1099C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889540	0.91889	6.81E-4	2.33E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.0	5.0	0.66597	.	0.113050	0.64402	D	0.000018	T	0.58906	0.2155	L	0.43923	1.385	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.984;0.996;0.794	T	0.60791	-0.7193	10	0.66056	D	0.02	.	18.4763	0.90793	0.0:1.0:0.0:0.0	.	305;305;367	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	W	305;305;367;367;305;367	ENSP00000315841:R305W;ENSP00000348938:R305W;ENSP00000310309:R367W;ENSP00000425394:R367W;ENSP00000421183:R305W;ENSP00000420855:R367W	ENSP00000310309:R367W	R	+	1	2	ABLIM3	148599539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.471000	0.60182	2.598000	0.87819	0.462000	0.41574	CGG		0.642	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		110	533	0	0	0	1	0	110	533				
CHD7	55636	broad.mit.edu	37	8	61777910	61777910	+	Silent	SNP	G	G	A	rs200747690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61777910G>A	ENST00000423902.2	+	38	8891	c.8412G>A	c.(8410-8412)gcG>gcA	p.A2804A	CHD7_ENST00000524602.1_Silent_p.A755A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2804					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGAATGGCGGGCCTGCCCA	0.607																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(8410-8412)gcG>gcA		chromodomain helicase DNA binding protein 7		G		0,4020		0,0,2010	22.0	26.0	24.0		8412	-8.1	0.9	8		24	1,8345		0,1,4172	no	coding-synonymous	CHD7	NM_017780.3		0,1,6182	AA,AG,GG		0.012,0.0,0.0081		2804/2998	61777910	1,12365	2010	4173	6183	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61777910G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8412G>A	8.37:g.61777910G>A						CHD7_ENST00000524602.1_Silent_p.A755A	p.A2804A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	8891	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2804					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.8412G>A	CCDS47865.1																																																																																				0.607	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	95	0	0	0	1	0	4	95				
TERT	7015	broad.mit.edu	37	5	1254618	1254618	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1254618T>C	ENST00000310581.5	-	15	3217	c.3160A>G	c.(3160-3162)Atg>Gtg	p.M1054V	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.M991V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1054	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCCAGCGACATCCCTGGGGGA	0.687									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(3160-3162)Atg>Gtg		telomerase reverse transcriptase							17.0	21.0	20.0					5																	1254618		2072	4211	6283	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1254618T>C	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3160A>G	5.37:g.1254618T>C	ENSP00000309572:p.Met1054Val					TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.M991V	p.M1054V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		15	3217	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		1054			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.3160A>G	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	t	0.061	-1.224119	0.01530	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96073	-3.9;-3.8	4.28	-5.67	0.02444	.	0.735512	0.13043	N	0.418388	D	0.83238	0.5211	N	0.13352	0.335	0.20563	N	0.999882	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.75923	-0.3146	10	0.09590	T	0.72	-12.4951	2.127	0.03741	0.1326:0.3539:0.2934:0.2201	.	991;1054	O14746-3;O14746	.;TERT_HUMAN	V	1054;991	ENSP00000309572:M1054V;ENSP00000334346:M991V	ENSP00000309572:M1054V	M	-	1	0	TERT	1307618	0.000000	0.05858	0.016000	0.15963	0.115000	0.19883	-2.797000	0.00763	-0.529000	0.06358	0.397000	0.26171	ATG		0.687	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			29	108	0	0	0	1	0	29	108				
QRICH2	84074	broad.mit.edu	37	17	74289427	74289427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289427C>T	ENST00000262765.5	-	4	1062	c.883G>A	c.(883-885)Gac>Aac	p.D295N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	295										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATGTTGGTCTGTGCTAGGT	0.498																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(883-885)Gac>Aac		glutamine rich 2							161.0	137.0	145.0					17																	74289427		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289427C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.883G>A	17.37:g.74289427C>T	ENSP00000262765:p.Asp295Asn						p.D295N	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1062	-			295					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.883G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710551	0.30322	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.14893	2.47	3.55	2.55	0.30701	.	.	.	.	.	T	0.25975	0.0633	L	0.52364	1.645	0.09310	N	1	D;P	0.63880	0.993;0.541	P;B	0.55391	0.775;0.098	T	0.08953	-1.0697	9	0.27082	T	0.32	-6.2065	10.9542	0.47347	0.0:0.8079:0.1921:0.0	.	295;295	B5MD94;Q9H0J4	.;QRIC2_HUMAN	N	295	ENSP00000262765:D295N	ENSP00000262765:D295N	D	-	1	0	QRICH2	71801022	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.136000	0.15974	1.042000	0.40150	0.563000	0.77884	GAC		0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		80	404	0	0	0	1	0	80	404				
COL4A2	1284	broad.mit.edu	37	13	111130421	111130421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111130421G>T	ENST00000360467.5	+	30	2803	c.2497G>T	c.(2497-2499)Ggc>Tgc	p.G833C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	833	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGCCAGCCAGGCCTGTATGG	0.652																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2497-2499)Ggc>Tgc		collagen, type IV, alpha 2							22.0	25.0	24.0					13																	111130421		1867	4088	5955	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111130421G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2497G>T	13.37:g.111130421G>T	ENSP00000353654:p.Gly833Cys						p.G833C	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		30	2803	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	833			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2497G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740068	0.30865	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99637	-6.29	4.21	4.21	0.49690	.	0.000000	0.48286	D	0.000190	D	0.99813	0.9918	H	0.99444	4.57	0.54753	D	0.999987	D	0.56746	0.977	D	0.68353	0.957	D	0.96546	0.9404	10	0.87932	D	0	.	13.9129	0.63878	0.0:0.0:1.0:0.0	.	833	P08572	CO4A2_HUMAN	C	833	ENSP00000353654:G833C	ENSP00000257309:G833C	G	+	1	0	COL4A2	109928422	1.000000	0.71417	0.187000	0.23214	0.413000	0.31143	6.597000	0.74118	2.072000	0.62099	0.499000	0.49734	GGC		0.652	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		40	148	1	0	6.19805e-25	1	7.1e-25	40	148				
NUMA1	4926	broad.mit.edu	37	11	71720154	71720154	+	Missense_Mutation	SNP	C	C	A	rs148604464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71720154C>A	ENST00000393695.3	-	19	5248	c.4917G>T	c.(4915-4917)gaG>gaT	p.E1639D	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D|NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTGCAGCTGCTCCAGGCTCC	0.567			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(4915-4917)gaG>gaT		nuclear mitotic apparatus protein 1																																				SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71720154C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4917G>T	11.37:g.71720154C>A	ENSP00000377298:p.Glu1639Asp					NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D	p.E1639D	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			19	5248	-			1639						Missense_Mutation	SNP	ENST00000393695.3	37	c.4917G>T	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352129|2.352129	0.41700|0.41700	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.44083|.	2.04;0.93;2.42|.	5.24|5.24	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.49305|.	D|.	0.000142|.	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.32530|0.32530	0.975|0.975	0.32596|0.32596	N|N	0.526508|0.526508	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.998;0.996|.	D;D;D;D;D|.	0.83275|.	0.99;0.996;0.994;0.99;0.987|.	T|T	0.49744|0.49744	-0.8907|-0.8907	10|5	0.37606|.	T|.	0.19|.	.|.	8.4599|8.4599	0.32921|0.32921	0.0:0.7626:0.0:0.2374|0.0:0.7626:0.0:0.2374	.|.	1645;1109;1625;1639;503|.	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9|.	.;.;.;NUMA1_HUMAN;.|.	D|I	503;1625;1639;1188;594|470	ENSP00000260051:E503D;ENSP00000351851:E1625D;ENSP00000377298:E1639D|.	ENSP00000260051:E503D|.	E|S	-|-	3|2	2|0	NUMA1|NUMA1	71397802|71397802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.471000|0.471000	0.32888|0.32888	1.788000|1.788000	0.38714|0.38714	1.206000|1.206000	0.43276|0.43276	0.561000|0.561000	0.74099|0.74099	GAG|AGC		0.567	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			49	250	1	0	4.17463e-26	1	4.80398e-26	49	250				
ADCY3	109	broad.mit.edu	37	2	25050811	25050811	+	Missense_Mutation	SNP	C	C	T	rs369803323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25050811C>T	ENST00000260600.5	-	13	3243	c.2392G>A	c.(2392-2394)Gtc>Atc	p.V798I	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	798					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATCAAAGACGGGACGCCAG	0.577											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2392-2394)Gtc>Atc		adenylate cyclase 3		C	ILE/VAL	0,4406		0,0,2203	100.0	91.0	94.0		2392	-0.7	0.9	2		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY3	NM_004036.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	798/1145	25050811	1,13005	2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25050811C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2392G>A	2.37:g.25050811C>T	ENSP00000260600:p.Val798Ile		OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I|ADCY3_ENST00000450524.1_5'UTR	p.V798I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			13	3243	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		798					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2392G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675471	0.03378	0.0	1.16E-4	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.38	-0.709	0.11237	.	0.251516	0.42964	N	0.000624	T	0.25938	0.0632	N	0.00677	-1.265	0.29688	N	0.841193	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.15952	T	0.53	.	13.8019	0.63206	0.0:0.1043:0.0:0.8957	.	798;798;385	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	798;385;773;137;141	ENSP00000260600:V798I;ENSP00000384484:V385I;ENSP00000402008:V137I;ENSP00000410972:V141I	ENSP00000260600:V798I	V	-	1	0	ADCY3	24904315	1.000000	0.71417	0.926000	0.36857	0.006000	0.05464	2.103000	0.41806	-0.280000	0.09154	-1.910000	0.00522	GTC		0.577	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			94	337	0	0	0	1	0	94	337				
TMEM59	9528	broad.mit.edu	37	1	54518711	54518711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54518711C>T	ENST00000234831.5	-	1	400	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371341.1_Intron|TCEANC2_ENST00000371331.1_5'Flank|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T|TCEANC2_ENST00000234827.1_5'Flank	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	51					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AACTGACAGGCCCGGTGGCAA	0.647																																						ENST00000234831.5																			0				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(151-153)Gcc>Acc		transmembrane protein 59							71.0	77.0	75.0					1																	54518711		2203	4300	6503	SO:0001583	missense	9528					Golgi membrane|integral to membrane		g.chr1:54518711C>T	AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.151G>A	1.37:g.54518711C>T	ENSP00000234831:p.Ala51Thr					TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T	p.A51T	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN			1	400	-			51					B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	37	c.151G>A	CCDS586.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074046	0.36566	.	.	ENSG00000116209	ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337	T;T;T	0.44881	0.94;0.95;0.91	5.12	5.12	0.69794	.	0.234093	0.44285	D	0.000470	T	0.23370	0.0565	N	0.16368	0.405	0.40796	D	0.98329	B;B;B;B	0.22276	0.067;0.067;0.01;0.01	B;B;B;B	0.17098	0.017;0.008;0.003;0.002	T	0.07751	-1.0756	10	0.05351	T	0.99	-16.0678	13.0808	0.59114	0.0:0.9235:0.0:0.0765	.	51;51;51;51	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	T	51	ENSP00000234831:A51T;ENSP00000397772:A51T;ENSP00000360388:A51T	ENSP00000234831:A51T	A	-	1	0	TMEM59	54291299	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.736000	0.38187	2.653000	0.90120	0.655000	0.94253	GCC		0.647	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		76	322	0	0	0	1	0	76	322				
NOVA1	4857	broad.mit.edu	37	14	27064755	27064755	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs141059341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:27064755G>A	ENST00000267422.7	-	0	140				NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000344429.5_Silent_p.D47D|NOVA1_ENST00000547619.1_Silent_p.D47D|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000465357.2_Silent_p.D47D|NOVA1_ENST00000539517.2_Silent_p.D47D|NOVA1_ENST00000574031.1_Silent_p.D47D|NOVA1_ENST00000551754.1_5'Flank			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AATACTGGCCGTCTTCTGAAA	0.393																																						ENST00000267422.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40								neuro-oncological ventral antigen 1		G	,,	0,4406		0,0,2203	69.0	65.0	66.0		141,141,141	4.9	1.0	14	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	NOVA1	NM_002515.2,NM_006489.2,NM_006491.2	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	47/508,47/484,47/182	27064755	2,13004	2203	4300	6503			4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:27064755G>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000267422.7:c.-328C>T	14.37:g.27064755G>A						NOVA1_ENST00000344429.5_Silent_p.D47D|NOVA1_ENST00000574031.1_Silent_p.D47D|NOVA1_ENST00000547619.1_Silent_p.D47D|NOVA1_ENST00000465357.2_Silent_p.D47D|NOVA1_ENST00000539517.2_Silent_p.D47D				P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	0	140	-								A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Translation_Start_Site	SNP	ENST00000267422.7	37																																																																																						0.393	NOVA1-201	KNOWN	basic	protein_coding	protein_coding		NM_006491		7	260	0	0	0	1	0	7	260				
ADAM30	11085	broad.mit.edu	37	1	120438762	120438762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120438762C>T	ENST00000369400.1	-	1	356	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	66					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTTTTAACTGCAGTAGGTAGG	0.542																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(196-198)ctG>ctA		ADAM metallopeptidase domain 30							86.0	79.0	81.0					1																	120438762		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438762C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.198G>A	1.37:g.120438762C>T							p.L66L	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	356	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	66					A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.198G>A	CCDS907.1																																																																																				0.542	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		87	263	0	0	0	1	0	87	263				
SRRM4	84530	broad.mit.edu	37	12	119559878	119559878	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119559878C>T	ENST00000267260.4	+	6	856	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	156	Lys-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTTTAGCTCCTCTAGCCCAA	0.373																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(466-468)tcC>tcT		serine/arginine repetitive matrix 4							117.0	109.0	112.0					12																	119559878		1854	4095	5949	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119559878C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.468C>T	12.37:g.119559878C>T							p.S156S	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			6	856	+			156			Lys-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.468C>T	CCDS44994.1																																																																																				0.373	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		36	206	0	0	0	1	0	36	206				
CHTF18	63922	broad.mit.edu	37	16	841944	841944	+	Missense_Mutation	SNP	G	G	A	rs368315905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:841944G>A	ENST00000262315.9	+	9	1261	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	CHTF18_ENST00000317063.6_Missense_Mutation_p.A595T|CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	400					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAGATGAACGCCAGGTGAGT	0.627																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(1783-1785)Gcc>Acc		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)		G	THR/ALA	0,4338		0,0,2169	51.0	53.0	52.0		1198	5.0	0.8	16		52	2,8538		0,2,4268	no	missense	CHTF18	NM_022092.2	58	0,2,6437	AA,AG,GG		0.0234,0.0,0.0155	probably-damaging	400/976	841944	2,12876	2169	4270	6439	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:841944G>A	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1198G>A	16.37:g.841944G>A	ENSP00000262315:p.Ala400Thr					CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T|CHTF18_ENST00000262315.9_Missense_Mutation_p.A400T	p.A595T			Q8WVB6	CTF18_HUMAN			10	1783	+		Hepatocellular(780;0.00335)	400					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.1783G>A	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750830	0.89753	0.0	2.34E-4	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.19669	2.13;2.13;2.13	5.04	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55547	-0.8124	10	0.87932	D	0	-14.4997	15.8801	0.79197	0.0:0.0:1.0:0.0	.	428;400	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	T	595;428;400	ENSP00000313029:A595T;ENSP00000406252:A428T;ENSP00000262315:A400T	ENSP00000262315:A400T	A	+	1	0	CHTF18	781945	1.000000	0.71417	0.806000	0.32338	0.365000	0.29674	9.587000	0.98229	2.344000	0.79699	0.591000	0.81541	GCC		0.627	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		10	71	0	0	0	1	0	10	71				
YIPF1	54432	broad.mit.edu	37	1	54344385	54344385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54344385C>T	ENST00000072644.1	-	5	542	c.206G>A	c.(205-207)gGa>gAa	p.G69E	YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	69						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTTCTTCTGTCCAGCAAGTAA	0.393																																						ENST00000072644.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						c.(205-207)gGa>gAa		Yip1 domain family, member 1							78.0	81.0	80.0					1																	54344385		2203	4300	6503	SO:0001583	missense	54432					integral to membrane|transport vesicle		g.chr1:54344385C>T	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.206G>A	1.37:g.54344385C>T	ENSP00000072644:p.Gly69Glu					YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E	p.G69E	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN			5	542	-			69					B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	37	c.206G>A	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993707	0.54041	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	P	0.59643	0.861	T	0.52609	-0.8553	9	0.11794	T	0.64	-0.3282	17.341	0.87296	0.0:1.0:0.0:0.0	.	69	Q9Y548	YIPF1_HUMAN	E	69;94;69	.	ENSP00000072644:G69E	G	-	2	0	YIPF1	54116973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.317000	0.59184	2.478000	0.83669	0.591000	0.81541	GGA		0.393	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		25	244	0	0	0	1	0	25	244				
PRR27	401137	broad.mit.edu	37	4	71024410	71024410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024410G>T	ENST00000344526.5	+	3	630	c.441G>T	c.(439-441)gaG>gaT	p.E147D	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		147	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TAGCAGCTGAGCCTGCTGCAG	0.617																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(439-441)gaG>gaT		chromosome 4 open reading frame 40							30.0	34.0	33.0					4																	71024410		2199	4293	6492	SO:0001583	missense	401137					extracellular region		g.chr4:71024410G>T																												ENST00000344526.5:c.441G>T	4.37:g.71024410G>T	ENSP00000343172:p.Glu147Asp					C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D|C4orf40_ENST00000502441.2_3'UTR	p.E147D	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	630	+			147			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.441G>T	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803175	0.16397	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32272	1.46;1.46	4.64	-9.27	0.00659	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18398	-1.0338	9	0.22109	T	0.4	0.2678	5.6229	0.17467	0.5778:0.0866:0.2482:0.0874	.	147	Q6MZM9	CD040_HUMAN	D	147	ENSP00000426249:E147D;ENSP00000343172:E147D	ENSP00000343172:E147D	E	+	3	2	C4orf40	71058999	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.151000	0.10175	-2.808000	0.00349	-2.602000	0.00161	GAG		0.617	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			87	345	1	0	6.11987e-43	1	7.46226e-43	87	345				
ITPR3	3710	broad.mit.edu	37	6	33626894	33626894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33626894G>T	ENST00000374316.5	+	7	1685	c.625G>T	c.(625-627)Gag>Tag	p.E209*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E209*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	209	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGGCTGCAAGGAGGTGAGGGG	0.642																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(625-627)Gag>Tag		inositol 1,4,5-trisphosphate receptor, type 3							53.0	51.0	52.0					6																	33626894		2203	4300	6503	SO:0001587	stop_gained	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33626894G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.625G>T	6.37:g.33626894G>T	ENSP00000363435:p.Glu209*					ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E209*	p.E209*			Q14573	ITPR3_HUMAN			7	1685	+			209			MIR 2.		Q14649|Q5TAQ2	Nonsense_Mutation	SNP	ENST00000374316.5	37	c.625G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	44	11.245118	0.99536	.	.	ENSG00000096433	ENST00000374316	.	.	.	4.68	4.68	0.58851	.	0.055402	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.5481	17.7866	0.88540	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000363435:E209X	E	+	1	0	ITPR3	33734872	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.561000	0.98142	2.434000	0.82447	0.462000	0.41574	GAG		0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		17	366	1	0	4.7546e-09	1	4.99022e-09	17	366				
PRUNE2	158471	broad.mit.edu	37	9	79438601	79438601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79438601G>T	ENST00000376718.3	-	6	826	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PRUNE2_ENST00000428286.1_De_novo_Start_InFrame|PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	235					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCTGACAGCTCCTTTAGA	0.348																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16								prune homolog 2 (Drosophila)							147.0	123.0	131.0					9																	79438601		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79438601G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.703C>A	9.37:g.79438601G>T	ENSP00000365908:p.Leu235Met					PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M|PRUNE2_ENST00000376718.3_Missense_Mutation_p.L235M				Q8WUY3	PRUN2_HUMAN			0	826	-								B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Translation_Start_Site	SNP	ENST00000376718.3	37		CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009893	0.35415	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.49139	0.79	5.58	3.77	0.43336	DHHA2 (1);	0.195283	0.35555	N	0.003133	T	0.58481	0.2125	L	0.61218	1.895	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.81914	0.995;0.867	T	0.59005	-0.7535	10	0.72032	D	0.01	.	3.3472	0.07140	0.1412:0.1347:0.5853:0.1388	.	235;235	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	M	235;234;235	ENSP00000365908:L235M	ENSP00000365903:L235M	L	-	1	2	PRUNE2	78628421	1.000000	0.71417	0.991000	0.47740	0.455000	0.32408	1.101000	0.31037	0.743000	0.32719	-1.008000	0.02478	CTG		0.348	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		81	349	1	0	1.4051e-37	1	1.68838e-37	81	349				
NCOA3	8202	broad.mit.edu	37	20	46264680	46264680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264680G>T	ENST00000371998.3	+	12	1741	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000372004.3_Missense_Mutation_p.S517I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	517	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAACCACAGCTTTTCCAGC	0.453																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1549-1551)aGc>aTc		nuclear receptor coactivator 3							64.0	64.0	64.0					20																	46264680		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46264680G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1550G>T	20.37:g.46264680G>T	ENSP00000361066:p.Ser517Ile					NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000371998.3_Missense_Mutation_p.S517I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I	p.S517I	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			12	1766	+			517			Ser-rich.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.1550G>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252255	0.39797	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.72	2.76	0.32466	.	0.239134	0.42821	D	0.000652	T	0.23014	0.0556	M	0.70275	2.135	0.37709	D	0.924494	P;P;P;B;P;P	0.40660	0.554;0.677;0.554;0.373;0.682;0.726	B;B;B;B;P;B	0.44860	0.273;0.299;0.273;0.273;0.462;0.342	T	0.05632	-1.0873	10	0.72032	D	0.01	-3.665	7.0434	0.25033	0.2174:0.1333:0.6494:0.0	.	517;527;521;517;517;517	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	I	517;527;517;517;527	ENSP00000342123:S527I;ENSP00000361073:S517I;ENSP00000361066:S517I;ENSP00000361065:S527I	ENSP00000345671:S517I	S	+	2	0	NCOA3	45698087	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.198000	0.32223	0.363000	0.24346	-0.150000	0.13652	AGC		0.453	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		74	354	1	0	2.9056e-39	1	3.51233e-39	74	354				
SNCAIP	9627	broad.mit.edu	37	5	121786784	121786784	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786784C>A	ENST00000261368.8	+	10	2504	c.2242C>A	c.(2242-2244)Cca>Aca	p.P748T	SNCAIP_ENST00000379536.2_Missense_Mutation_p.P688T|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P795T|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P382T|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P306T|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P795T|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P350T|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	748					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGCCACAGCCCATCTCCCAC	0.552																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2383-2385)Cca>Aca		synuclein, alpha interacting protein							84.0	88.0	87.0					5																	121786784		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786784C>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2242C>A	5.37:g.121786784C>A	ENSP00000261368:p.Pro748Thr					CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P350T|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P306T|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P795T|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P748T|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P688T|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P382T|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	p.P795T			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3811	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	748					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2383C>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637997	0.67130	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.17854	4.11;4.62;2.26;2.25;4.62;4.56;2.25;4.32	6.06	6.06	0.98353	.	0.227341	0.46758	D	0.000262	T	0.47801	0.1465	M	0.77313	2.365	0.54753	D	0.99998	D;D;D;D;D;D;D;D	0.89917	0.999;0.993;0.985;0.986;0.998;0.986;1.0;0.976	D;D;P;P;D;P;D;P	0.83275	0.989;0.949;0.901;0.791;0.986;0.843;0.996;0.7	T	0.39623	-0.9605	10	0.87932	D	0	-18.3831	20.6208	0.99490	0.0:1.0:0.0:0.0	.	688;376;350;688;382;382;795;748	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	T	306;688;748;795;688;382;795;350	ENSP00000441681:P306T;ENSP00000422106:P688T;ENSP00000261368:P748T;ENSP00000368848:P795T;ENSP00000368851:P688T;ENSP00000368854:P382T;ENSP00000261367:P795T;ENSP00000394392:P350T	ENSP00000261367:P795T	P	+	1	0	SNCAIP	121814683	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.308000	0.43690	2.882000	0.98803	0.655000	0.94253	CCA		0.552	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			50	221	1	0	1.15181e-12	1	1.23883e-12	50	221				
AFTPH	54812	broad.mit.edu	37	2	64779607	64779607	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779607G>T	ENST00000422803.1	+	2	1313	c.999G>T	c.(997-999)aaG>aaT	p.K333N	AFTPH_ENST00000238856.4_Missense_Mutation_p.K333N|AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N|AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	333					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTCAGTCAAAGGCTTGGAGTT	0.383																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(997-999)aaG>aaT		aftiphilin							99.0	103.0	102.0					2																	64779607		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779607G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.999G>T	2.37:g.64779607G>T	ENSP00000397726:p.Lys333Asn					AFTPH_ENST00000238856.4_Missense_Mutation_p.K333N|AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N|AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N	p.K333N			Q6ULP2	AFTIN_HUMAN			2	1313	+			333					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.999G>T		.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457507	0.04508	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.47	3.55	0.40652	.	0.943333	0.08875	N	0.880981	T	0.14743	0.0356	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.26809	0.001;0.001;0.001;0.16	B;B;B;B	0.24701	0.001;0.001;0.001;0.055	T	0.31392	-0.9945	10	0.17832	T	0.49	1.9068	3.7104	0.08417	0.1505:0.0:0.5355:0.314	.	333;333;333;333	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	N	333	ENSP00000238856:K333N;ENSP00000397726:K333N;ENSP00000238855:K333N;ENSP00000387071:K333N	ENSP00000238855:K333N	K	+	3	2	AFTPH	64633111	0.986000	0.35501	0.317000	0.25265	0.965000	0.64279	1.792000	0.38754	1.405000	0.46838	0.585000	0.79938	AAG		0.383	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		72	485	1	0	9.12251e-31	1	1.07152e-30	72	485				
SEC22A	26984	broad.mit.edu	37	3	122978426	122978426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122978426G>A	ENST00000309934.4	+	5	1609	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	SEC22A_ENST00000481965.2_Missense_Mutation_p.A80T|SEC22A_ENST00000492595.1_Missense_Mutation_p.C238Y	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	238					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACAGCAGCCTGCCTTTACCAG	0.333																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(712-714)tGc>tAc		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							81.0	80.0	80.0					3																	122978426		2203	4298	6501	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122978426G>A	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.713G>A	3.37:g.122978426G>A	ENSP00000310521:p.Cys238Tyr					SEC22A_ENST00000492595.1_Missense_Mutation_p.C238Y|SEC22A_ENST00000481965.2_Missense_Mutation_p.A80T	p.C238Y	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	5	1609	+			238					B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.713G>A	CCDS3021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432005|3.432005	0.62844|0.62844	.|.	.|.	ENSG00000121542|ENSG00000121542	ENST00000481965|ENST00000492595;ENST00000473494;ENST00000309934	.|T;T;T	.|0.20069	.|2.1;2.11;2.1	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34890|0.34890	0.0913|0.0913	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.36733	.|0.567	.|B	.|0.42343	.|0.384	T|T	0.18650|0.18650	-1.0330|-1.0330	6|10	0.30854|0.87932	T|D	0.27|0	1.1136|1.1136	14.4762|14.4762	0.67548|0.67548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|238	.|Q96IW7	.|SC22A_HUMAN	T|Y	80|238	.|ENSP00000417972:C238Y;ENSP00000420343:C238Y;ENSP00000310521:C238Y	ENSP00000420128:A80T|ENSP00000310521:C238Y	A|C	+|+	1|2	0|0	SEC22A|SEC22A	124461116|124461116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.568000|6.568000	0.73987|0.73987	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.333	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		5	123	0	0	0	1	0	5	123				
C12orf71	728858	broad.mit.edu	37	12	27234975	27234975	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27234975C>T	ENST00000429849.2	-	1	472	c.442G>A	c.(442-444)Gat>Aat	p.D148N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	148										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						ACAGCGTCATCATCTTTCAGA	0.418																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(442-444)Gat>Aat		chromosome 12 open reading frame 71							56.0	52.0	53.0					12																	27234975		1851	4096	5947	SO:0001583	missense	728858							g.chr12:27234975C>T		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.442G>A	12.37:g.27234975C>T	ENSP00000413728:p.Asp148Asn						p.D148N	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			1	472	-			148						Missense_Mutation	SNP	ENST00000429849.2	37	c.442G>A	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565368	0.27915	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.52983	0.64	3.22	2.32	0.28847	.	0.000000	0.32918	U	0.005496	T	0.24198	0.0586	N	0.11560	0.145	0.09310	N	1	B	0.30851	0.297	B	0.27170	0.077	T	0.16660	-1.0395	10	0.87932	D	0	-0.5384	6.3487	0.21363	0.0:0.8568:0.0:0.1432	.	148	A8MTZ7	CL071_HUMAN	N	148	ENSP00000413728:D148N	ENSP00000381796:D148N	D	-	1	0	C12orf71	27126242	0.000000	0.05858	0.006000	0.13384	0.100000	0.18952	0.242000	0.18087	0.689000	0.31550	0.511000	0.50034	GAT		0.418	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		4	33	0	0	0	1	0	4	33				
FMO1	2326	broad.mit.edu	37	1	171248003	171248003	+	Missense_Mutation	SNP	C	C	T	rs146934200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171248003C>T	ENST00000354841.4	+	4	751	c.620C>T	c.(619-621)gCg>gTg	p.A207V	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.A144V|FMO1_ENST00000367750.3_Missense_Mutation_p.A207V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	207					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGCCACCTGGCGGAAAAGGTA	0.428																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(619-621)gCg>gTg		flavin containing monooxygenase 1		C	VAL/ALA	0,4406		0,0,2203	58.0	58.0	58.0		620	5.3	0.4	1	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	no	missense	FMO1	NM_002021.1	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	207/533	171248003	2,13004	2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171248003C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.620C>T	1.37:g.171248003C>T	ENSP00000346901:p.Ala207Val					FMO1_ENST00000367750.3_Missense_Mutation_p.A207V|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.A144V	p.A207V			Q01740	FMO1_HUMAN			4	751	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		207					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.620C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	38	6.696619	0.97772	0.0	2.33E-4	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.34	5.34	0.76211	.	0.115098	0.56097	D	0.000024	T	0.81380	0.4810	M	0.91561	3.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.74348	0.983;0.745;0.97	D	0.84607	0.0676	10	0.62326	D	0.03	.	18.1935	0.89813	0.0:1.0:0.0:0.0	.	144;207;207	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	V	207;207;144;207	ENSP00000356724:A207V;ENSP00000406982:A207V;ENSP00000385543:A144V;ENSP00000346901:A207V	ENSP00000346901:A207V	A	+	2	0	FMO1	169514627	1.000000	0.71417	0.437000	0.26809	0.936000	0.57629	7.625000	0.83145	2.665000	0.90641	0.563000	0.77884	GCG		0.428	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		8	249	0	0	0	1	0	8	249				
CCKAR	886	broad.mit.edu	37	4	26483762	26483762	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483762T>G	ENST00000295589.3	-	5	979	c.785A>C	c.(784-786)aAa>aCa	p.K262T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	262					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCCTCATATTTGCCGCTGCT	0.617																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(784-786)aAa>aCa		cholecystokinin A receptor	Ceruletide(DB00403)						72.0	77.0	75.0					4																	26483762		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483762T>G	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.785A>C	4.37:g.26483762T>G	ENSP00000295589:p.Lys262Thr						p.K262T	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	979	-		Breast(46;0.0503)	262					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.785A>C	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	T	1.656	-0.512836	0.04200	.	.	ENSG00000163394	ENST00000295589	T	0.52057	0.68	5.22	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	0.297788	0.35870	N	0.002939	T	0.28400	0.0702	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.15925	-1.0420	10	0.12103	T	0.63	.	2.5809	0.04818	0.1187:0.2967:0.1177:0.4669	.	262	P32238	CCKAR_HUMAN	T	262	ENSP00000295589:K262T	ENSP00000295589:K262T	K	-	2	0	CCKAR	26092860	0.943000	0.32029	0.000000	0.03702	0.023000	0.10783	1.881000	0.39638	-0.333000	0.08476	-0.624000	0.04008	AAA		0.617	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			106	459	0	0	0	1	0	106	459				
PCDHGB1	56104	broad.mit.edu	37	5	140731024	140731024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731024G>A	ENST00000523390.1	+	1	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTATTACAAGCTGGTGATTG	0.478																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1195-1197)aaG>aaA									55.0	59.0	58.0					5																	140731024		1976	4159	6135	SO:0001819	synonymous_variant	0							g.chr5:140731024G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1197G>A	5.37:g.140731024G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.K399K	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1197	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1197G>A	CCDS54923.1																																																																																				0.478	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		26	106	0	0	0	1	0	26	106				
REV1	51455	broad.mit.edu	37	2	100029261	100029261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100029261G>A	ENST00000258428.3	-	13	2332	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	REV1_ENST00000393445.3_Missense_Mutation_p.P701S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	702					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTCGAACTGGTCTATCATCC	0.403								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2104-2106)Cca>Tca	Direct reversal of damage	REV1, polymerase (DNA directed)							126.0	114.0	118.0					2																	100029261		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100029261G>A	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2104C>T	2.37:g.100029261G>A	ENSP00000258428:p.Pro702Ser					REV1_ENST00000393445.3_Missense_Mutation_p.P701S|REV1_ENST00000465835.1_5'UTR	p.P702S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			13	2332	-			702					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2104C>T	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023083	0.93462	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.982;0.999	P;D	0.72075	0.824;0.976	T	0.53365	-0.8449	10	0.32370	T	0.25	.	19.3712	0.94488	0.0:0.0:1.0:0.0	.	702;701	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	S	701;702	ENSP00000377091:P701S;ENSP00000258428:P702S	ENSP00000258428:P702S	P	-	1	0	REV1	99395693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.035000	0.93752	2.563000	0.86464	0.650000	0.86243	CCA		0.403	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		121	365	0	0	0	1	0	121	365				
SLC27A4	10999	broad.mit.edu	37	9	131107479	131107479	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107479C>T	ENST00000300456.4	+	3	324	c.207C>T	c.(205-207)tgC>tgT	p.C69C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	69					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCGACAGTGCCTGCAGGAGC	0.622																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(205-207)tgC>tgT		solute carrier family 27 (fatty acid transporter), member 4							76.0	49.0	58.0					9																	131107479		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131107479C>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.207C>T	9.37:g.131107479C>T						SLC27A4_ENST00000372870.1_Intron	p.C69C	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			3	324	+			69					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.207C>T	CCDS6899.1																																																																																				0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			33	207	0	0	0	1	0	33	207				
CDK5RAP3	80279	broad.mit.edu	37	17	46056230	46056230	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46056230A>T	ENST00000338399.4	+	11	1130	c.1024A>T	c.(1024-1026)Aca>Tca	p.T342S	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.T367S	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	342					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGATGCCCTGACACTGCTTGA	0.537											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(1099-1101)Aca>Tca		CDK5 regulatory subunit associated protein 3							102.0	96.0	98.0					17																	46056230		1942	4167	6109	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46056230A>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.1024A>T	17.37:g.46056230A>T	ENSP00000344683:p.Thr342Ser		OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	936	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.T342S|CDK5RAP3_ENST00000578663.1_3'UTR	p.T367S	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			11	1208	+			342					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.1099A>T	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689435	0.29962	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.45276	0.9;0.9	5.18	5.18	0.71444	.	0.329096	0.32935	N	0.005468	T	0.25901	0.0631	N	0.25060	0.705	0.41095	D	0.985628	B;B;B;B	0.26845	0.161;0.097;0.068;0.019	B;B;B;B	0.28991	0.058;0.039;0.097;0.015	T	0.08310	-1.0728	10	0.08599	T	0.76	3.0927	9.5267	0.39169	0.8426:0.0:0.0:0.1574	.	367;255;342;117	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	367;342	ENSP00000438886:T367S;ENSP00000344683:T342S	ENSP00000344683:T342S	T	+	1	0	CDK5RAP3	43411229	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.106000	0.50322	2.168000	0.68352	0.533000	0.62120	ACA		0.537	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		69	371	0	0	0	1	0	69	371				
CCDC85A	114800	broad.mit.edu	37	2	56420278	56420278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420278G>T	ENST00000407595.2	+	2	1445	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	315	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGAGCCCGGAACACTTCCA	0.642																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(943-945)Gaa>Taa		coiled-coil domain containing 85A							60.0	70.0	67.0					2																	56420278		2030	4185	6215	SO:0001587	stop_gained	114800							g.chr2:56420278G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.943G>T	2.37:g.56420278G>T	ENSP00000384040:p.Glu315*					RP11-482H16.1_ENST00000607540.1_RNA	p.E315*	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1445	+			315			His-rich.			Nonsense_Mutation	SNP	ENST00000407595.2	37	c.943G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	43	10.239125	0.99366	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.2501	19.0598	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	X	315	.	ENSP00000384040:E315X	E	+	1	0	CCDC85A	56273782	1.000000	0.71417	0.115000	0.21578	0.935000	0.57460	6.664000	0.74437	2.507000	0.84556	0.591000	0.81541	GAA		0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			39	558	1	0	7.04047e-22	1	7.94894e-22	39	558				
HLCS	3141	broad.mit.edu	37	21	38309528	38309528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38309528G>T	ENST00000399120.1	-	5	1447	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	HLCS_ENST00000336648.4_Missense_Mutation_p.P73T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	73					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTTTGTTTGGGTTCTTCACCA	0.552																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(217-219)Ccc>Acc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						91.0	78.0	82.0					21																	38309528		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309528G>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.217C>A	21.37:g.38309528G>T	ENSP00000382071:p.Pro73Thr					HLCS_ENST00000336648.3_Missense_Mutation_p.P73T	p.P73T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			5	1447	-		Myeloproliferative disorder(46;0.0422)	73					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.217C>A	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783937	0.16189	.	.	ENSG00000159267	ENST00000399120;ENST00000336648;ENST00000448340;ENST00000419461;ENST00000427746	D;D	0.97976	-4.64;-4.64	5.0	-9.6	0.00553	.	0.833571	0.10862	N	0.625967	D	0.92580	0.7643	L	0.53249	1.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81037	-0.1114	10	0.34782	T	0.22	.	1.0272	0.01530	0.436:0.1744:0.1271:0.2625	.	73;73	B2RAH1;P50747	.;BPL1_HUMAN	T	73	ENSP00000382071:P73T;ENSP00000338387:P73T	ENSP00000338387:P73T	P	-	1	0	HLCS	37231398	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.400000	0.07241	-1.709000	0.01399	-0.137000	0.14449	CCC		0.552	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			34	325	1	0	3.21399e-22	1	3.63327e-22	34	325				
SLIT3	6586	broad.mit.edu	37	5	168139347	168139347	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168139347G>T	ENST00000519560.1	-	24	2915	c.2496C>A	c.(2494-2496)ggC>ggA	p.G832G	SLIT3_ENST00000332966.8_Silent_p.G832G|CTC-558O2.1_ENST00000522615.1_RNA|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G832G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	832					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGTCATTGCCATGGAGGG	0.493																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2494-2496)ggC>ggA		slit homolog 3 (Drosophila)							140.0	127.0	131.0					5																	168139347		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168139347G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2496C>A	5.37:g.168139347G>T						CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G832G|SLIT3_ENST00000332966.8_Silent_p.G832G	p.G832G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		24	2915	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	832					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.2496C>A	CCDS4369.1																																																																																				0.493	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		25	305	1	0	3.65163e-15	1	3.98403e-15	25	305				
TRIM38	10475	broad.mit.edu	37	6	25972122	25972122	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25972122A>C	ENST00000357085.3	+	5	1009	c.533A>C	c.(532-534)aAa>aCa	p.K178T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	178					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAGAGACAAAAAATCCGGTCT	0.403																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(532-534)aAa>aCa		tripartite motif containing 38							55.0	55.0	55.0					6																	25972122		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25972122A>C	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.533A>C	6.37:g.25972122A>C	ENSP00000349596:p.Lys178Thr					TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	p.K178T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			5	1009	+			178					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.533A>C	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	3.568	-0.088221	0.07097	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.04502	3.61;3.61;3.61	4.55	0.716	0.18191	.	0.495426	0.17267	N	0.180553	T	0.01092	0.0036	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.20577	0.03	T	0.46498	-0.9187	10	0.45353	T	0.12	.	5.0157	0.14335	0.5343:0.3685:0.0971:0.0	.	178	O00635	TRI38_HUMAN	T	178	ENSP00000443976:K178T;ENSP00000230099:K178T;ENSP00000349596:K178T	ENSP00000230099:K178T	K	+	2	0	TRIM38	26080101	0.010000	0.17322	0.005000	0.12908	0.002000	0.02628	0.306000	0.19279	0.123000	0.18342	-0.313000	0.08912	AAA		0.403	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			49	206	0	0	0	1	0	49	206				
UHRF1BP1	54887	broad.mit.edu	37	6	34789517	34789517	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34789517G>T	ENST00000192788.5	+	2	303	c.132G>T	c.(130-132)gaG>gaT	p.E44D	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	44							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGATGAAGAGGTTCTACAGA	0.522																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(130-132)gaG>gaT		UHRF1 binding protein 1							83.0	84.0	84.0					6																	34789517		1954	4155	6109	SO:0001583	missense	54887							g.chr6:34789517G>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.132G>T	6.37:g.34789517G>T	ENSP00000192788:p.Glu44Asp					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D	p.E44D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			2	303	+			44					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.132G>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414584	0.83449	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	D;D	0.82526	-1.62;-1.62	5.79	2.01	0.26516	.	0.059459	0.64402	D	0.000003	T	0.81791	0.4897	L	0.48642	1.525	0.50632	D	0.999881	D	0.89917	1.0	D	0.87578	0.998	T	0.81116	-0.1079	10	0.51188	T	0.08	-24.7211	10.1509	0.42794	0.3296:0.0:0.6704:0.0	.	44	Q6BDS2	URFB1_HUMAN	D	44	ENSP00000192788:E44D;ENSP00000400628:E44D	ENSP00000192788:E44D	E	+	3	2	UHRF1BP1	34897495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.503000	0.45407	0.370000	0.24538	0.557000	0.71058	GAG		0.522	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		28	298	1	0	7.38237e-10	1	7.79401e-10	28	298				
CLN6	54982	broad.mit.edu	37	15	68500697	68500697	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500697G>A	ENST00000249806.5	-	7	874	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CALML4_ENST00000395465.3_5'Flank|CLN6_ENST00000564752.1_3'UTR|CALML4_ENST00000467889.1_5'Flank|CLN6_ENST00000538696.1_Silent_p.F271F|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000418702.2_Silent_p.F110F|CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000565471.1_Silent_p.F86F|CALML4_ENST00000448060.2_5'Flank	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	239					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGCATGGCGAAGAAGGTGA	0.607																																						ENST00000249806.5																			0				large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(715-717)ttC>ttT		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							75.0	64.0	68.0					15																	68500697		2200	4298	6498	SO:0001819	synonymous_variant	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68500697G>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.717C>T	15.37:g.68500697G>A						CLN6_ENST00000418702.2_Silent_p.F110F|CLN6_ENST00000538696.1_Silent_p.F271F|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000564752.1_3'UTR|CLN6_ENST00000565471.1_Silent_p.F86F|RP11-315D16.2_ENST00000562767.1_Intron	p.F239F	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN			7	874	-			239					A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	ENST00000249806.5	37	c.717C>T	CCDS10227.1																																																																																				0.607	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		58	312	0	0	0	1	0	58	312				
SRRM4	84530	broad.mit.edu	37	12	119592129	119592129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592129G>A	ENST00000267260.4	+	12	1861	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	491	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGTCCTACTCGCCTATGAGAA	0.667																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1471-1473)tcG>tcA		serine/arginine repetitive matrix 4							17.0	21.0	20.0					12																	119592129		1856	4093	5949	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592129G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1473G>A	12.37:g.119592129G>A							p.S491S	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1861	+			491			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.1473G>A	CCDS44994.1																																																																																				0.667	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		22	100	0	0	0	1	0	22	100				
SLC44A5	204962	broad.mit.edu	37	1	75683558	75683558	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683558A>G	ENST00000370855.5	-	18	1730	c.1617T>C	c.(1615-1617)cgT>cgC	p.R539R	SLC44A5_ENST00000535611.1_Silent_p.R409R|SLC44A5_ENST00000370859.3_Silent_p.R539R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	539					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACGTTTAAGACGGTGGTCCA	0.358																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1615-1617)cgT>cgC		solute carrier family 44, member 5							55.0	57.0	56.0					1																	75683558		2203	4299	6502	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75683558A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1617T>C	1.37:g.75683558A>G						SLC44A5_ENST00000370859.3_Silent_p.R539R|SLC44A5_ENST00000535611.1_Silent_p.R409R	p.R539R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			18	1730	-			539					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.1617T>C	CCDS667.1																																																																																				0.358	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		23	140	0	0	0	1	0	23	140				
INTS3	65123	broad.mit.edu	37	1	153730091	153730091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153730091G>A	ENST00000318967.2	+	10	1569	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	INTS3_ENST00000435409.2_Missense_Mutation_p.R334H|INTS3_ENST00000512605.1_Missense_Mutation_p.R128H|INTS3_ENST00000456435.1_Missense_Mutation_p.R128H|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	335					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.R334H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTTCCAGCGCCAGTACCTG	0.498																																						ENST00000456435.1																			1	Substitution - Missense(1)	p.R334H(1)	large_intestine(1)	breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(382-384)cGc>cAc		integrator complex subunit 3							203.0	181.0	188.0					1																	153730091		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153730091G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1001G>A	1.37:g.153730091G>A	ENSP00000318641:p.Arg334His					INTS3_ENST00000512605.1_Missense_Mutation_p.R128H|INTS3_ENST00000318967.2_Missense_Mutation_p.R334H|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R334H	p.R128H			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1569	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		335					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.383G>A	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113640	0.94339	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	M	0.71581	2.175	0.54753	D	0.999984	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.78314	0.991;0.957;0.872	T	0.76451	-0.2954	9	0.72032	D	0.01	.	15.2588	0.73606	0.0:0.0:1.0:0.0	.	128;335;334	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	H	334;128;334;128	.	ENSP00000318641:R334H	R	+	2	0	INTS3	151996715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.815000	0.75242	2.463000	0.83235	0.455000	0.32223	CGC		0.498	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		57	670	0	0	0	1	0	57	670				
CAMSAP2	23271	broad.mit.edu	37	1	200819344	200819344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200819344C>A	ENST00000236925.4	+	12	3529	c.3480C>A	c.(3478-3480)tgC>tgA	p.C1160*	CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.C1133*|CAMSAP2_ENST00000358823.2_Nonsense_Mutation_p.C1149*			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1160					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AGAAAGTATGCTGTGGATTCT	0.353																																						ENST00000358823.2																			0											c.(3445-3447)tgC>tgA		calmodulin regulated spectrin-associated protein family, member 2							99.0	111.0	107.0					1																	200819344		2197	4296	6493	SO:0001587	stop_gained	23271					cytoplasm|microtubule	protein binding	g.chr1:200819344C>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3480C>A	1.37:g.200819344C>A	ENSP00000236925:p.Cys1160*					CAMSAP2_ENST00000236925.4_Nonsense_Mutation_p.C1160*|CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.C1133*	p.C1149*	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	3717	+			1160					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Nonsense_Mutation	SNP	ENST00000236925.4	37	c.3447C>A		.	.	.	.	.	.	.	.	.	.	C	41	8.604489	0.98881	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	.	.	.	5.62	4.71	0.59529	.	0.039744	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.5258	11.5744	0.50854	0.0:0.8452:0.0:0.1548	.	.	.	.	X	1149;1133;1160	.	ENSP00000236925:C1160X	C	+	3	2	CAMSAP1L1	199085967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.185000	0.50934	1.518000	0.48934	-0.136000	0.14681	TGC		0.353	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		66	458	1	0	7.59065e-32	1	8.94676e-32	66	458				
HIST1H2BH	8345	broad.mit.edu	37	6	26252006	26252006	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26252006A>G	ENST00000356350.2	+	1	128	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	43					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTATACGTTTACAAGGTGCTG	0.562																																						ENST00000356350.2																			0				NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						c.(127-129)tAc>tGc		histone cluster 1, H2bh							153.0	138.0	143.0					6																	26252006		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252006A>G	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.128A>G	6.37:g.26252006A>G	ENSP00000348706:p.Tyr43Cys						p.Y43C	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN			1	128	+			43					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.128A>G	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.396033	0.83011	.	.	ENSG00000197459	ENST00000356350	T	0.22945	1.93	4.74	4.74	0.60224	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.55609	0.1931	H	0.95712	3.71	0.41038	D	0.985201	D	0.89917	1.0	D	0.80764	0.994	T	0.71056	-0.4703	9	0.87932	D	0	.	14.1186	0.65172	1.0:0.0:0.0:0.0	.	43	Q93079	H2B1H_HUMAN	C	43	ENSP00000348706:Y43C	ENSP00000348706:Y43C	Y	+	2	0	HIST1H2BH	26359985	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.981000	0.93465	2.070000	0.61991	0.533000	0.62120	TAC		0.562	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		153	704	0	0	0	1	0	153	704				
ASPM	259266	broad.mit.edu	37	1	197072533	197072533	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072533C>A	ENST00000367409.4	-	18	6104	c.5848G>T	c.(5848-5850)Gcg>Tcg	p.A1950S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTACCGCATGACGGAGT	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5848-5850)Gcg>Tcg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							221.0	215.0	217.0					1																	197072533		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072533C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5848G>T	1.37:g.197072533C>A	ENSP00000356379:p.Ala1950Ser					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.A1950S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6104	-			1950			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5848G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473039	0.26423	.	.	ENSG00000066279	ENST00000367409	T	0.70516	-0.49	5.62	4.71	0.59529	.	0.240301	0.35013	N	0.003508	T	0.59569	0.2203	L	0.45470	1.425	0.37067	D	0.898363	B	0.22909	0.077	B	0.21360	0.034	T	0.60566	-0.7238	10	0.40728	T	0.16	.	6.0909	0.19993	0.2775:0.5876:0.0:0.1349	.	1950	Q8IZT6	ASPM_HUMAN	S	1950	ENSP00000356379:A1950S	ENSP00000356379:A1950S	A	-	1	0	ASPM	195339156	0.133000	0.22466	0.040000	0.18447	0.002000	0.02628	0.843000	0.27640	1.372000	0.46190	-0.158000	0.13435	GCG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		286	838	1	0	4.89683e-108	1	6.30268e-108	286	838				
POLE	5426	broad.mit.edu	37	12	133250198	133250198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133250198G>A	ENST00000320574.5	-	13	1365	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	POLE_ENST00000535270.1_Missense_Mutation_p.P414L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	441					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CATGTCCTCCGGGTCTAGCTC	0.637								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1321-1323)cCg>cTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							124.0	117.0	119.0					12																	133250198		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133250198G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1322C>T	12.37:g.133250198G>A	ENSP00000322570:p.Pro441Leu					POLE_ENST00000535270.1_Missense_Mutation_p.P414L	p.P441L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	13	1365	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	441					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1322C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935356	0.73442	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.16196	4.83;4.83;4.83;2.36	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72773	-0.4192	10	0.87932	D	0	.	19.656	0.95842	0.0:0.0:1.0:0.0	.	414;441	F5H1D6;Q07864	.;DPOE1_HUMAN	L	441;452;414;221;376;59	ENSP00000322570:P441L;ENSP00000406383:P452L;ENSP00000445753:P414L;ENSP00000442519:P221L	ENSP00000322570:P441L	P	-	2	0	POLE	131760271	1.000000	0.71417	0.971000	0.41717	0.024000	0.10985	9.735000	0.98825	2.660000	0.90430	0.305000	0.20034	CCG		0.637	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		159	679	0	0	0	1	0	159	679				
SEC16A	9919	broad.mit.edu	37	9	139368891	139368891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139368891C>A	ENST00000371706.3	-	1	2676	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000313050.7_Missense_Mutation_p.Q1059H|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	881					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACCAGCTCCTGCTGGGCTC	0.587																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3175-3177)caG>caT		SEC16 homolog A (S. cerevisiae)							29.0	31.0	30.0					9																	139368891		1916	4131	6047	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139368891C>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2643G>T	9.37:g.139368891C>A	ENSP00000360771:p.Gln881His					SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000371706.3_Missense_Mutation_p.Q881H|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H	p.Q1059H	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	3250	-		Myeloproliferative disorder(178;0.0511)	881			Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.3177G>T		.	.	.	.	.	.	.	.	.	.	C	6.060	0.379383	0.11466	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.54	0.515	0.17013	.	0.696041	0.14138	N	0.338891	T	0.22085	0.0532	M	0.62723	1.935	0.40474	D	0.98037	B;B;B;B	0.16802	0.011;0.019;0.019;0.011	B;B;B;B	0.18561	0.01;0.022;0.022;0.005	T	0.05632	-1.0873	10	0.27082	T	0.32	-0.2317	5.8162	0.18494	0.0:0.4446:0.2851:0.2704	.	1059;881;881;449	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	H	1059;881;881;881;449	ENSP00000325827:Q1059H;ENSP00000360771:Q881H;ENSP00000290037:Q881H;ENSP00000387583:Q881H	ENSP00000290037:Q881H	Q	-	3	2	SEC16A	138488712	0.213000	0.23551	0.271000	0.24616	0.029000	0.11900	-0.129000	0.10515	-0.077000	0.12752	-0.136000	0.14681	CAG		0.587	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		39	149	1	0	7.05121e-23	1	7.99584e-23	39	149				
CHRM2	1129	broad.mit.edu	37	7	136700166	136700166	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700166C>A	ENST00000445907.2	+	3	1082	c.554C>A	c.(553-555)gCt>gAt	p.A185D	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	185					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCCAATGCTGCTGTCACCTTT	0.483																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(553-555)gCt>gAt		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						99.0	89.0	93.0					7																	136700166		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700166C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.554C>A	7.37:g.136700166C>A	ENSP00000399745:p.Ala185Asp					CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|AC009264.1_ENST00000597642.1_RNA	p.A185D	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1082	+			185					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.554C>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495260	0.64186	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.72118	2.19	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	T	0.59220	-0.7495	10	0.32370	T	0.25	-22.3117	19.4315	0.94772	0.0:1.0:0.0:0.0	.	185	P08172	ACM2_HUMAN	D	185	ENSP00000399745:A185D;ENSP00000415386:A185D;ENSP00000319984:A185D;ENSP00000380733:A185D;ENSP00000384937:A185D;ENSP00000384401:A185D	ENSP00000319984:A185D	A	+	2	0	CHRM2	136350706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.600000	0.87896	0.655000	0.94253	GCT		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			80	388	1	0	1.82278e-21	1	2.0542e-21	80	388				
ZNF607	84775	broad.mit.edu	37	19	38189413	38189413	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38189413T>G	ENST00000355202.4	-	5	2214	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCTAAAAGACTTCCCGCATTT	0.428																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(1618-1620)aAg>aCg		zinc finger protein 607							62.0	59.0	60.0					19																	38189413		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189413T>G	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1619A>C	19.37:g.38189413T>G	ENSP00000347338:p.Lys540Thr					ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T|CTD-2528L19.4_ENST00000586606.2_Intron	p.K540T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2214	-			540					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1619A>C	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225450	0.58668	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.07908	3.15;3.15	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	M	0.82923	2.615	0.32279	N	0.567864	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	T	0.32693	-0.9897	9	0.87932	D	0	.	9.1906	0.37197	0.0:0.0:0.0:1.0	.	540;539	Q96SK3;F5H141	ZN607_HUMAN;.	T	540;539	ENSP00000347338:K540T;ENSP00000438015:K539T	ENSP00000347338:K540T	K	-	2	0	ZNF607	42881253	0.958000	0.32768	0.213000	0.23690	0.027000	0.11550	3.507000	0.53371	1.028000	0.39785	0.459000	0.35465	AAG		0.428	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		60	304	0	0	0	1	0	60	304				
NCOA6	23054	broad.mit.edu	37	20	33330454	33330454	+	Silent	SNP	C	C	T	rs372455229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330454C>T	ENST00000374796.2	-	12	6176	c.3606G>A	c.(3604-3606)gcG>gcA	p.A1202A	NCOA6_ENST00000359003.2_Silent_p.A1202A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1202	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCTGGGTTGGCGCAGCCACAT	0.577																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3604-3606)gcG>gcA		nuclear receptor coactivator 6		C	,	0,4406		0,0,2203	105.0	112.0	110.0		,3606	-6.1	1.0	20		110	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	NCOA6	NM_001242539.1,NM_014071.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,1202/2064	33330454	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330454C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3606G>A	20.37:g.33330454C>T						NCOA6_ENST00000359003.2_Silent_p.A1202A	p.A1202A			Q14686	NCOA6_HUMAN			12	6176	-			1202			NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.3606G>A	CCDS13241.1																																																																																				0.577	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		65	664	0	0	0	1	0	65	664				
AASDHPPT	60496	broad.mit.edu	37	11	105950319	105950319	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105950319G>A	ENST00000278618.4	+	2	531	c.309G>A	c.(307-309)ccG>ccA	p.P103P	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	103					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.P103P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATCCTTACCCGAATTTCAACT	0.393																																						ENST00000278618.4																			1	Substitution - coding silent(1)	p.P103P(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(307-309)ccG>ccA		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase							110.0	109.0	109.0					11																	105950319		2201	4299	6500	SO:0001819	synonymous_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105950319G>A	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.309G>A	11.37:g.105950319G>A							p.P103P	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	2	531	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	103					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	37	c.309G>A	CCDS31664.1																																																																																				0.393	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		65	310	0	0	0	1	0	65	310				
PTCH2	8643	broad.mit.edu	37	1	45307689	45307689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45307689G>A	ENST00000372192.3	-	2	225	c.95C>T	c.(94-96)gCt>gTt	p.A32V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A32V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	32					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCAGAGTGGAGCCTTCAGGCT	0.537									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(94-96)gCt>gTt		patched 2							83.0	86.0	85.0					1																	45307689		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45307689G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.95C>T	1.37:g.45307689G>A	ENSP00000361266:p.Ala32Val					PTCH2_ENST00000372192.3_Missense_Mutation_p.A32V	p.A32V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			2	106	-	Acute lymphoblastic leukemia(166;0.155)		32					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.95C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002097	0.93227	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.83755	-1.76;-1.76	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000227	T	0.81437	0.4822	L	0.51422	1.61	0.52501	D	0.999955	P	0.38788	0.647	B	0.41946	0.371	T	0.81829	-0.0753	10	0.40728	T	0.16	-6.674	16.0996	0.81163	0.0:0.0:1.0:0.0	.	32	Q9Y6C5	PTC2_HUMAN	V	32	ENSP00000389703:A32V;ENSP00000361266:A32V	ENSP00000361266:A32V	A	-	2	0	PTCH2	45080276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.325000	0.78763	0.561000	0.74099	GCT		0.537	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		79	347	0	0	0	1	0	79	347				
TMEM182	130827	broad.mit.edu	37	2	103431254	103431254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103431254G>A	ENST00000412401.2	+	5	722	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	173						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTGGGTCCAGGCAGTGGCTGA	0.468																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(517-519)Gca>Aca		transmembrane protein 182							106.0	88.0	94.0					2																	103431254		2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103431254G>A	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.517G>A	2.37:g.103431254G>A	ENSP00000394178:p.Ala173Thr					TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T	p.A173T	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			5	722	+			173					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.517G>A	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925589	0.52759	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.68479	-0.33;-0.33;-0.33	6.16	5.27	0.74061	.	0.229666	0.46145	D	0.000306	T	0.69424	0.3109	L	0.44542	1.39	0.42575	D	0.993199	P;P	0.41784	0.643;0.762	P;P	0.50378	0.639;0.639	T	0.67829	-0.5569	10	0.33141	T	0.24	-3.7239	15.7838	0.78286	0.0:0.1353:0.8647:0.0	.	173;130	Q6ZP80;B8ZZ71	TM182_HUMAN;.	T	77;130;173	ENSP00000387258:A77T;ENSP00000387184:A130T;ENSP00000394178:A173T	ENSP00000387184:A130T	A	+	1	0	TMEM182	102797686	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.473000	0.53122	1.583000	0.49898	0.650000	0.86243	GCA		0.468	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		43	135	0	0	0	1	0	43	135				
TLN1	7094	broad.mit.edu	37	9	35697899	35697899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35697899C>A	ENST00000314888.9	-	57	7868	c.7515G>T	c.(7513-7515)caG>caT	p.Q2505H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q2393H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2505	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTTCTTCCTGTGCTGCGA	0.562																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(7513-7515)caG>caT		talin 1							99.0	90.0	93.0					9																	35697899		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35697899C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7515G>T	9.37:g.35697899C>A	ENSP00000316029:p.Gln2505His					TLN1_ENST00000540444.1_Missense_Mutation_p.Q2393H	p.Q2505H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		57	7868	-	all_epithelial(49;0.167)		2505			I/LWEQ.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.7515G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995911	0.54147	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.54071	0.59;0.59	5.09	0.961	0.19638	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.70230	-0.4929	10	0.72032	D	0.01	-16.1363	9.2791	0.37718	0.0:0.6089:0.0:0.3911	.	2505	Q9Y490	TLN1_HUMAN	H	2505;2393	ENSP00000316029:Q2505H;ENSP00000442981:Q2393H	ENSP00000316029:Q2505H	Q	-	3	2	TLN1	35687899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.254000	0.32897	0.327000	0.23409	0.563000	0.77884	CAG		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		8	288	1	0	0.00307968	1	0.00310409	8	288				
MMP26	56547	broad.mit.edu	37	11	5013249	5013249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013249G>T	ENST00000380390.1	+	6	867	c.651G>T	c.(649-651)caG>caT	p.Q217H	MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	217					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TGGGCCTGCAGCACTCTGGGA	0.413																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(649-651)caG>caT		matrix metallopeptidase 26							69.0	65.0	66.0					11																	5013249		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013249G>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.651G>T	11.37:g.5013249G>T	ENSP00000369753:p.Gln217His					MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H	p.Q217H			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	6	867	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	217					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.651G>T	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	0.351	-0.944724	0.02304	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21543	2.0;2.0	3.79	-3.17	0.05202	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	4.533080	0.00669	N	0.000629	T	0.11965	0.0291	N	0.16708	0.43	0.09310	N	0.999991	B	0.21381	0.055	B	0.30646	0.118	T	0.15464	-1.0436	10	0.12766	T	0.61	5.7276	2.8457	0.05542	0.2533:0.4746:0.1499:0.1222	.	217	Q9NRE1	MMP26_HUMAN	H	217	ENSP00000369753:Q217H;ENSP00000300762:Q217H	ENSP00000300762:Q217H	Q	+	3	2	MMP26	4969825	0.000000	0.05858	0.003000	0.11579	0.472000	0.32918	-3.215000	0.00554	-0.410000	0.07542	-0.305000	0.09177	CAG		0.413	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		39	208	1	0	4.0492e-12	1	4.34013e-12	39	208				
NFATC2	4773	broad.mit.edu	37	20	50071220	50071220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50071220G>A	ENST00000396009.3	-	6	1933	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NFATC2_ENST00000610033.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.R572*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.R552*	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	572	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGAGCAGATCGCTGGGCTGCA	0.502																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1714-1716)Cga>Tga		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							124.0	122.0	123.0					20																	50071220		2203	4300	6503	SO:0001587	stop_gained	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50071220G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1714C>T	20.37:g.50071220G>A	ENSP00000379330:p.Arg572*					NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000396009.3_Nonsense_Mutation_p.R572*	p.R572*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			6	1933	-	Hepatocellular(150;0.248)		572			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Nonsense_Mutation	SNP	ENST00000396009.3	37	c.1714C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	41	8.675014	0.98910	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.59	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1039	13.2218	0.59892	0.0:0.0:0.7277:0.2723	.	.	.	.	X	572;572;552	.	ENSP00000360619:R572X	R	-	1	2	NFATC2	49504627	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.442000	0.59988	2.622000	0.88805	0.650000	0.86243	CGA		0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		51	574	0	0	0	1	0	51	574				
CTTNBP2	83992	broad.mit.edu	37	7	117420533	117420533	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117420533A>T	ENST00000160373.3	-	7	2576	c.2485T>A	c.(2485-2487)Ttg>Atg	p.L829M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	829					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCTTCCAACAAGAGTTTAATA	0.343																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2485-2487)Ttg>Atg		cortactin binding protein 2							147.0	148.0	148.0					7																	117420533		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117420533A>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2485T>A	7.37:g.117420533A>T	ENSP00000160373:p.Leu829Met						p.L829M	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	7	2576	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		829					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2485T>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.834947|2.834947	0.50951|0.50951	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	T|D	0.69806|0.90004	-0.43|-2.6	5.78|5.78	-2.05|-2.05	0.07321|0.07321	.|Ankyrin repeat-containing domain (3);	0.063133|0.063133	0.64402|0.64402	D|D	0.000008|0.000008	D|D	0.93462|0.93462	0.7914|0.7914	M|M	0.84948|0.84948	2.725|2.725	0.37406|0.37406	D|D	0.913042|0.913042	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.93340|0.93340	0.6709|0.6709	8|10	0.66056|0.87932	D|D	0.02|0	-7.1708|-7.1708	12.828|12.828	0.57731|0.57731	0.5502:0.0:0.4498:0.0|0.5502:0.0:0.4498:0.0	.|.	.|829	.|Q8WZ74	.|CTTB2_HUMAN	H|M	316|829	ENSP00000389576:L316H|ENSP00000160373:L829M	ENSP00000389576:L316H|ENSP00000160373:L829M	L|L	-|-	2|1	0|2	CTTNBP2|CTTNBP2	117207769|117207769	0.973000|0.973000	0.33851|0.33851	0.561000|0.561000	0.28357|0.28357	0.450000|0.450000	0.32258|0.32258	0.600000|0.600000	0.24104|0.24104	-0.263000|-0.263000	0.09378|0.09378	-0.290000|-0.290000	0.09829|0.09829	CTT|TTG		0.343	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		103	542	0	0	0	1	0	103	542				
THRB	7068	broad.mit.edu	37	3	24231596	24231596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24231596C>A	ENST00000356447.4	-	4	536	c.252G>T	c.(250-252)caG>caT	p.Q84H	THRB_ENST00000396671.2_Missense_Mutation_p.Q84H|THRB_ENST00000416420.1_Missense_Mutation_p.Q84H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	84	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTTGGAAGGTCTGGGCACTTG	0.423																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(250-252)caG>caT		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						201.0	192.0	195.0					3																	24231596		2203	4300	6503	SO:0001583	missense	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24231596C>A		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.252G>T	3.37:g.24231596C>A	ENSP00000348827:p.Gln84His					THRB_ENST00000416420.1_Missense_Mutation_p.Q84H|THRB_ENST00000356447.4_Missense_Mutation_p.Q84H	p.Q84H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			5	600	-			84			Modulating.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	c.252G>T	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205171	0.58234	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414	D;D;D;D	0.96830	-3.27;-3.27;-3.27;-4.14	6.07	4.26	0.50523	.	.	.	.	.	D	0.91395	0.7285	N	0.24115	0.695	0.24548	N	0.994032	P	0.41041	0.736	B	0.35550	0.205	D	0.83841	0.0257	9	0.46703	T	0.11	.	11.6123	0.51066	0.0:0.8081:0.1256:0.0663	.	84	P10828	THB_HUMAN	H	84;84;84;53;84;84;84;84;84	ENSP00000379904:Q84H;ENSP00000348827:Q84H;ENSP00000414444:Q84H;ENSP00000414100:Q53H	ENSP00000348827:Q84H	Q	-	3	2	THRB	24206600	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	1.411000	0.34702	0.866000	0.35629	0.655000	0.94253	CAG		0.423	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		28	695	1	0	3.90053e-15	1	4.25374e-15	28	695				
LRIT3	345193	broad.mit.edu	37	4	110791482	110791482	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791482A>G	ENST00000594814.1	+	4	1577	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G	LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000327908.3_Missense_Mutation_p.D343G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	526	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAGGACCTGCTGCTG	0.478																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1027-1029)gAc>gGc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							136.0	125.0	129.0					4																	110791482		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791482A>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1577A>G	4.37:g.110791482A>G	ENSP00000469759:p.Asp526Gly					LRIT3_ENST00000594814.1_Missense_Mutation_p.D526G|LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G	p.D343G			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1792	+			481			Ser-rich.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1028A>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752055	0.69533	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.091310	0.85682	D	0.000000	T	0.55689	0.1936	M	0.74647	2.275	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.74674	0.937;0.984	T	0.61342	-0.7082	10	0.87932	D	0	.	15.0075	0.71524	1.0:0.0:0.0:0.0	.	481;343	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	G	343;481;343	ENSP00000328222:D343G;ENSP00000369252:D481G;ENSP00000386734:D343G	ENSP00000328222:D343G	D	+	2	0	LRIT3	111010931	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	6.948000	0.75965	1.943000	0.56356	0.533000	0.62120	GAC		0.478	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		89	441	0	0	0	1	0	89	441				
MYO15A	51168	broad.mit.edu	37	17	18024987	18024987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18024987C>T	ENST00000205890.5	+	2	3211	c.2873C>T	c.(2872-2874)cCt>cTt	p.P958L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	958					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCACCCCCTGTGCCGGAA	0.682																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(2872-2874)cCt>cTt		myosin XVA							11.0	13.0	13.0					17																	18024987		1870	4056	5926	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18024987C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.2873C>T	17.37:g.18024987C>T	ENSP00000205890:p.Pro958Leu						p.P958L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3211	+	all_neural(463;0.228)		958			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.2873C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	8.837	0.941276	0.18281	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	4.49	2.44	0.29823	.	.	.	.	.	T	0.78175	0.4242	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.66952	-0.5793	9	0.72032	D	0.01	.	5.4677	0.16652	0.1973:0.6959:0.0:0.1068	.	958	Q9UKN7	MYO15_HUMAN	L	958	ENSP00000205890:P958L	ENSP00000205890:P958L	P	+	2	0	MYO15A	17965712	0.001000	0.12720	0.007000	0.13788	0.257000	0.26127	1.014000	0.29950	0.324000	0.23333	0.462000	0.41574	CCT		0.682	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		20	115	0	0	0	1	0	20	115				
DRAXIN	374946	broad.mit.edu	37	1	11766469	11766469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11766469C>A	ENST00000294485.5	+	2	289	c.154C>A	c.(154-156)Cct>Act	p.P52T		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GCTGTGGACGCCTCAGGCCAG	0.726																																						ENST00000294485.5																			0											c.(154-156)Cct>Act		dorsal inhibitory axon guidance protein							14.0	18.0	17.0					1																	11766469		2202	4294	6496	SO:0001583	missense	374946							g.chr1:11766469C>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.154C>A	1.37:g.11766469C>A	ENSP00000294485:p.Pro52Thr						p.P52T	NM_198545.3	NP_940947.3					2	289	+									Missense_Mutation	SNP	ENST00000294485.5	37	c.154C>A	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558601	0.03967	.	.	ENSG00000162490	ENST00000294485	T	0.40225	1.04	4.54	3.61	0.41365	.	0.413084	0.22949	N	0.053686	T	0.30324	0.0761	L	0.45581	1.43	0.09310	N	1	P	0.36909	0.573	B	0.36666	0.23	T	0.21724	-1.0237	10	0.02654	T	1	-2.7206	10.3928	0.44184	0.0:0.9061:0.0:0.0939	.	52	Q8NBI3	DRAXI_HUMAN	T	52	ENSP00000294485:P52T	ENSP00000294485:P52T	P	+	1	0	C1orf187	11689056	0.067000	0.21026	0.219000	0.23793	0.081000	0.17604	1.938000	0.40203	0.857000	0.35407	0.313000	0.20887	CCT		0.726	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		38	139	1	0	9.73076e-26	1	1.11809e-25	38	139				
PIGQ	9091	broad.mit.edu	37	16	633554	633554	+	Missense_Mutation	SNP	G	G	A	rs575374982		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633554G>A	ENST00000026218.5	+	10	2291	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	735					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTGACCCCCGTCCCCAGCGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18657	0.0		0.001	False		,,,				2504	0.0					ENST00000026218.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(2203-2205)Gtc>Atc		phosphatidylinositol glycan anchor biosynthesis, class Q							37.0	39.0	38.0					16																	633554		2200	4300	6500	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633554G>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2203G>A	16.37:g.633554G>A	ENSP00000026218:p.Val735Ile					PIGQ_ENST00000321878.5_3'UTR	p.V735I	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN			10	2291	+		Hepatocellular(780;0.00335)	735					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.2203G>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689420	0.29962	.	.	ENSG00000007541	ENST00000026218	T	0.20881	2.04	3.3	-6.6	0.01824	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	0.09310	N	0.999999	P;B	0.47677	0.899;0.13	B;B	0.34824	0.19;0.022	T	0.28554	-1.0040	8	.	.	.	.	2.0104	0.03486	0.1858:0.2673:0.397:0.1499	.	305;735	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	I	735	ENSP00000026218:V735I	.	V	+	1	0	PIGQ	573555	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.619000	0.02048	-1.407000	0.02043	0.449000	0.29647	GTC		0.627	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		37	410	0	0	0	1	0	37	410				
AFF1	4299	broad.mit.edu	37	4	88035526	88035526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035526C>A	ENST00000307808.6	+	11	1940	c.1520C>A	c.(1519-1521)cCt>cAt	p.P507H	AFF1_ENST00000544085.1_Missense_Mutation_p.P145H|AFF1_ENST00000395146.4_Missense_Mutation_p.P514H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	507					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TAGCCTGAGCCTCCAACAACA	0.493																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(1519-1521)cCt>cAt		AF4/FMR2 family, member 1							13.0	18.0	17.0					4																	88035526		2087	4141	6228	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88035526C>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1520C>A	4.37:g.88035526C>A	ENSP00000305689:p.Pro507His					AFF1_ENST00000544085.1_Missense_Mutation_p.P145H|AFF1_ENST00000395146.4_Missense_Mutation_p.P514H	p.P507H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	1940	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	507					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1520C>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.278086	0.40294	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.70399	-0.48;-0.48;-0.48	5.89	5.89	0.94794	.	0.146689	0.48767	D	0.000163	D	0.86451	0.5936	M	0.83774	2.66	0.50632	D	0.999882	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.87195	0.2237	10	0.87932	D	0	-20.0312	20.2566	0.98424	0.0:1.0:0.0:0.0	.	514;507;507	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	H	514;166;507;145	ENSP00000378578:P514H;ENSP00000305689:P507H;ENSP00000440843:P145H	ENSP00000305689:P507H	P	+	2	0	AFF1	88254550	0.977000	0.34250	1.000000	0.80357	0.439000	0.31926	2.238000	0.43070	2.793000	0.96121	0.561000	0.74099	CCT		0.493	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		19	135	1	0	5.03518e-11	1	5.3609e-11	19	135				
KMT2C	58508	broad.mit.edu	37	7	151884856	151884856	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151884856A>G	ENST00000262189.6	-	32	4955	c.4737T>C	c.(4735-4737)ccT>ccC	p.P1579P	KMT2C_ENST00000355193.2_Silent_p.P1579P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1579					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTCCGCTTCCAGGTGGCAAAG	0.413																																						ENST00000355193.2																			0											c.(4735-4737)ccT>ccC		lysine (K)-specific methyltransferase 2C							109.0	104.0	106.0					7																	151884856		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151884856A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4737T>C	7.37:g.151884856A>G						KMT2C_ENST00000262189.6_Silent_p.P1579P	p.P1579P							32	4955	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.4737T>C	CCDS5931.1																																																																																				0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			82	435	0	0	0	1	0	82	435				
P2RX1	5023	broad.mit.edu	37	17	3801339	3801339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3801339C>T	ENST00000225538.3	-	11	1372	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	366					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ATTTGAACTTCTTCTGCTTGT	0.607																																						ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(1096-1098)aaG>aaA		purinergic receptor P2X, ligand-gated ion channel, 1							105.0	108.0	107.0					17																	3801339		2203	4300	6503	SO:0001819	synonymous_variant	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3801339C>T	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.1098G>A	17.37:g.3801339C>T							p.K366K	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	11	1372	-			366					Q9UK84	Silent	SNP	ENST00000225538.3	37	c.1098G>A	CCDS11040.1																																																																																				0.607	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		21	822	0	0	0	1	0	21	822				
KLHL26	55295	broad.mit.edu	37	19	18778902	18778902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18778902G>A	ENST00000300976.4	+	3	785	c.695G>A	c.(694-696)cGc>cAc	p.R232H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	232	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGTCCGCTGGCTGCAG	0.687																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(694-696)cGc>cAc		kelch-like family member 26							23.0	24.0	24.0					19																	18778902		2199	4296	6495	SO:0001583	missense	55295							g.chr19:18778902G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.695G>A	19.37:g.18778902G>A	ENSP00000300976:p.Arg232His					KLHL26_ENST00000599006.1_Intron	p.R232H	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	785	+			232			BACK.		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.695G>A	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712884	0.89112	.	.	ENSG00000167487	ENST00000300976	T	0.69926	-0.44	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.86740	2.835	0.80722	D	1	P	0.52170	0.951	P	0.48552	0.581	T	0.81972	-0.0688	9	.	.	.	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	232	Q53HC5	KLH26_HUMAN	H	232	ENSP00000300976:R232H	.	R	+	2	0	KLHL26	18639902	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.734000	0.84928	2.341000	0.79615	0.591000	0.81541	CGC		0.687	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		16	340	0	0	0	1	0	16	340				
ADH5	128	broad.mit.edu	37	4	99998042	99998042	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99998042C>T	ENST00000296412.8	-	5	427	c.377G>A	c.(376-378)gGt>gAt	p.G126D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		TCTGCTGGTACCATCTGGCAT	0.368																																						ENST00000296412.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13						c.(376-378)gGt>gAt		alcohol dehydrogenase 5 (class III), chi polypeptide	NADH(DB00157)						36.0	34.0	34.0					4																	99998042		1844	4077	5921	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:99998042C>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.377G>A	4.37:g.99998042C>T	ENSP00000296412:p.Gly126Asp					ADH5_ENST00000512991.1_5'UTR	p.G126D	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	5	427	-			126						Missense_Mutation	SNP	ENST00000296412.8	37	c.377G>A	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.413953	0.62511	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.03717	3.83;3.83	5.2	4.28	0.50868	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.498508	0.24988	N	0.034012	T	0.15176	0.0366	M	0.88906	2.99	0.58432	D	0.999993	P;P;P	0.43519	0.809;0.809;0.809	P;P;P	0.50825	0.651;0.651;0.651	T	0.00206	-1.1921	9	.	.	.	.	14.3347	0.66581	0.0:0.9184:0.0:0.0816	.	126;126;126	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	126;113	ENSP00000296412:G126D;ENSP00000427049:G113D	.	G	-	2	0	ADH5	100217065	0.002000	0.14202	0.992000	0.48379	0.995000	0.86356	0.281000	0.18810	2.716000	0.92895	0.650000	0.86243	GGT		0.368	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		9	104	0	0	0	1	0	9	104				
SFI1	9814	broad.mit.edu	37	22	31942888	31942888	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31942888A>C	ENST00000400288.2	+	5	485	c.380A>C	c.(379-381)gAa>gCa	p.E127A	SFI1_ENST00000443326.1_Missense_Mutation_p.E45A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000443011.1_Missense_Mutation_p.E45A|SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000432498.1_Missense_Mutation_p.E127A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	127	Interaction with CETN2.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GTCTTCGAAGAATGGAAAGAG	0.413																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(379-381)gAa>gCa		Sfi1 homolog, spindle assembly associated (yeast)							120.0	115.0	117.0					22																	31942888		1852	4094	5946	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31942888A>C	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.380A>C	22.37:g.31942888A>C	ENSP00000383145:p.Glu127Ala					SFI1_ENST00000443011.1_Missense_Mutation_p.E45A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000400288.2_Missense_Mutation_p.E127A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000443326.1_Missense_Mutation_p.E45A	p.E127A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			5	773	+			127			Interaction with CETN2.		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.380A>C	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	6.071	0.381436	0.11524	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.11495	2.98;3.02;2.83;2.77;2.77;2.83;2.99	5.58	1.07	0.20283	.	0.799403	0.11209	N	0.587951	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B;B;D;B;P;P	0.71674	0.027;0.033;0.998;0.056;0.717;0.663	B;B;D;B;B;B	0.72625	0.02;0.034;0.978;0.034;0.352;0.159	T	0.24905	-1.0147	10	0.51188	T	0.08	.	4.3223	0.11023	0.5714:0.1658:0.2628:0.0	.	103;45;45;127;127;103	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	A	127;103;45;103;45;45;45;127	ENSP00000402679:E127A;ENSP00000443025:E103A;ENSP00000416469:E45A;ENSP00000397148:E45A;ENSP00000401199:E45A;ENSP00000383146:E45A;ENSP00000383145:E127A	ENSP00000383145:E127A	E	+	2	0	SFI1	30272888	0.617000	0.27043	0.053000	0.19242	0.270000	0.26580	0.916000	0.28651	-0.116000	0.11893	0.482000	0.46254	GAA		0.413	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		115	458	0	0	0	1	0	115	458				
DIO2	1734	broad.mit.edu	37	14	80669239	80669239	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669239C>T	ENST00000557010.1	-	4	1000	c.615G>A	c.(613-615)ccG>ccA	p.P205P	DIO2_ENST00000438257.4_Silent_p.P205P|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Silent_p.P241P	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	205					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.P205P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGCACTGGGGCGGCAAGGAGA	0.537											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000557010.1																			1	Substitution - coding silent(1)	p.P205P(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(613-615)ccG>ccA		deiodinase, iodothyronine, type II							73.0	76.0	75.0					14																	80669239		2048	4194	6242	SO:0001819	synonymous_variant	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669239C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.615G>A	14.37:g.80669239C>T			OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.P205P|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Silent_p.P241P	p.P205P	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	1000	-			205					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557010.1	37	c.615G>A	CCDS45146.1																																																																																				0.537	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			30	328	0	0	0	1	0	30	328				
MICAL3	57553	broad.mit.edu	37	22	18347481	18347481	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18347481C>A	ENST00000441493.2	-	19	2958				MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.G1054V|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000429452.1_Missense_Mutation_p.G1054V|MICAL3_ENST00000383094.3_Intron	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCCGACAGGCCATAGAGAAA	0.582																																						ENST00000429452.1																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(3160-3162)gGc>gTc		microtubule associated monooxygenase, calponin and LIM domain containing 3							29.0	31.0	31.0					22																	18347481		1568	3582	5150	SO:0001627	intron_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18347481C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2605+183G>T	22.37:g.18347481C>A						MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.G1054V|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000400561.2_Intron	p.G1054V	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	23	3513	-		all_epithelial(15;0.198)	0			Glu-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3161G>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148315	0.37923	.	.	ENSG00000093100	ENST00000429452	T	0.63744	-0.06	5.81	3.64	0.41730	.	.	.	.	.	T	0.44244	0.1284	.	.	.	0.40706	D	0.982522	B	0.02656	0.0	B	0.04013	0.001	T	0.33189	-0.9878	8	0.24483	T	0.36	.	8.1154	0.30940	0.345:0.5404:0.1147:0.0	.	1054	B2RXJ5	.	V	1054	ENSP00000414846:G1054V	ENSP00000414846:G1054V	G	-	2	0	XXbac-B461K10.4	16727481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.589000	0.46145	2.738000	0.93877	0.655000	0.94253	GGC		0.582	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			8	90	1	0	0.000157383	1	0.000159814	8	90				
FRMD5	84978	broad.mit.edu	37	15	44184228	44184228	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44184228A>C	ENST00000417257.1	-	8	855	c.679T>G	c.(679-681)Ttt>Gtt	p.F227V	FRMD5_ENST00000402883.1_Missense_Mutation_p.F227V|FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	227	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACAAACCCAAAAGGAGTGAAG	0.448																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(679-681)Ttt>Gtt		FERM domain containing 5							150.0	124.0	133.0					15																	44184228		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44184228A>C	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.679T>G	15.37:g.44184228A>C	ENSP00000403067:p.Phe227Val					FRMD5_ENST00000402883.1_Missense_Mutation_p.F227V|FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V	p.F227V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	8	855	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	227			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.679T>G	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493163	0.26774	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.86432	-2.12;-2.12;-2.12	4.48	4.48	0.54585	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.137493	0.64402	D	0.000020	T	0.78162	0.4240	N	0.19112	0.55	0.80722	D	1	B;B	0.25850	0.136;0.136	B;B	0.23852	0.049;0.049	T	0.75909	-0.3151	10	0.42905	T	0.14	.	13.0247	0.58808	1.0:0.0:0.0:0.0	.	227;227	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	V	227;227;193	ENSP00000403067:F227V;ENSP00000384142:F227V;ENSP00000399684:F193V	ENSP00000384142:F227V	F	-	1	0	FRMD5	41971520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.341000	0.90046	2.011000	0.59026	0.377000	0.23210	TTT		0.448	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		59	253	0	0	0	1	0	59	253				
UNC13A	23025	broad.mit.edu	37	19	17756803	17756803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17756803G>A	ENST00000519716.2	-	18	2161	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L|UNC13A_ENST00000428389.2_Missense_Mutation_p.P809L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	721	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCCCACACCGGGTTGAGGTT	0.572																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2425-2427)cCg>cTg		unc-13 homolog A (C. elegans)							73.0	69.0	71.0					19																	17756803		1943	4140	6083	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756803G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2162C>T	19.37:g.17756803G>A	ENSP00000429562:p.Pro721Leu					UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P721L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L	p.P809L			Q9UPW8	UN13A_HUMAN			19	2425	-			721					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2426C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214299	0.79352	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	3.85	3.85	0.44370	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.97776	0.9270	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98755	1.0722	10	0.87932	D	0	-19.6225	13.6311	0.62196	0.0:0.0:1.0:0.0	.	721	Q9UPW8	UN13A_HUMAN	L	721;809;721;721;721;719	ENSP00000429562:P721L;ENSP00000400409:P809L;ENSP00000252773:P721L;ENSP00000447236:P721L;ENSP00000447572:P721L;ENSP00000446831:P719L	ENSP00000252773:P721L	P	-	2	0	UNC13A	17617803	1.000000	0.71417	0.969000	0.41365	0.875000	0.50365	9.620000	0.98373	1.874000	0.54306	0.313000	0.20887	CCG		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		16	77	0	0	0	1	0	16	77				
HIVEP1	3096	broad.mit.edu	37	6	12125318	12125318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12125318C>T	ENST00000379388.2	+	4	5622	c.5290C>T	c.(5290-5292)Cgg>Tgg	p.R1764W	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1764					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACCAGAAGCGGGCCAAAGA	0.438																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(5290-5292)Cgg>Tgg		human immunodeficiency virus type I enhancer binding protein 1							90.0	90.0	90.0					6																	12125318		1862	4108	5970	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125318C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5290C>T	6.37:g.12125318C>T	ENSP00000368698:p.Arg1764Trp						p.R1764W	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	5622	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1764					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.5290C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244506	0.79912	.	.	ENSG00000095951	ENST00000379388	T	0.51071	0.72	5.62	2.69	0.31865	.	0.000000	0.29106	N	0.013133	T	0.64000	0.2559	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72117	-0.4387	9	.	.	.	-24.794	14.6652	0.68901	0.3799:0.6201:0.0:0.0	.	1764	P15822	ZEP1_HUMAN	W	1764	ENSP00000368698:R1764W	.	R	+	1	2	HIVEP1	12233304	1.000000	0.71417	0.937000	0.37676	0.998000	0.95712	3.293000	0.51779	0.673000	0.31224	0.655000	0.94253	CGG		0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		101	462	0	0	0	1	0	101	462				
SLC35F5	80255	broad.mit.edu	37	2	114501313	114501313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114501313C>A	ENST00000245680.2	-	6	952	c.539G>T	c.(538-540)aGc>aTc	p.S180I	SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	180					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATGTTTGTGCTCTCAGGTTT	0.343																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(538-540)aGc>aTc		solute carrier family 35, member F5							234.0	224.0	228.0					2																	114501313		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114501313C>A	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.539G>T	2.37:g.114501313C>A	ENSP00000245680:p.Ser180Ile					SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	p.S180I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			6	952	-			180					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.539G>T	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202722	0.38905	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.48522	0.81;0.81	5.35	4.41	0.53225	.	0.509245	0.23142	N	0.051441	T	0.28499	0.0705	N	0.14661	0.345	0.40549	D	0.981104	B;B;B	0.26876	0.162;0.015;0.037	B;B;B	0.28553	0.091;0.009;0.026	T	0.10941	-1.0608	10	0.36615	T	0.2	-3.8121	6.8013	0.23752	0.0:0.7491:0.0:0.2509	.	180;174;180	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	I	180;174;174	ENSP00000245680:S180I;ENSP00000386754:S174I	ENSP00000245680:S180I	S	-	2	0	SLC35F5	114217783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.340000	0.33896	1.327000	0.45338	0.655000	0.94253	AGC		0.343	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		157	616	1	0	6.95259e-96	1	8.93585e-96	157	616				
SYNE2	23224	broad.mit.edu	37	14	64692087	64692087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64692087G>A	ENST00000344113.4	+	115	20713	c.20501G>A	c.(20500-20502)cGg>cAg	p.R6834Q	SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q|SYNE2_ENST00000554584.1_Silent_p.P6754P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.R3219Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6834	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGGTGGTCCGGGCAGCCCTA	0.647																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9655-9657)cGg>cAg		spectrin repeat containing, nuclear envelope 2							44.0	36.0	39.0					14																	64692087		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64692087G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20501G>A	14.37:g.64692087G>A	ENSP00000341781:p.Arg6834Gln					SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6834Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q|SYNE2_ENST00000554584.1_Silent_p.P6754P	p.R3219Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	116	20800	+			6834					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9656G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029618	0.93518	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.99	5.99	0.97316	Klarsicht/ANC-1/syne-1 homology (2);	0.124076	0.32175	N	0.006463	T	0.61788	0.2375	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.72338	0.953;0.974;0.977;0.945;0.976;0.976;0.966	T	0.67292	-0.5707	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	491;3219;378;505;1236;6834;6856	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	Q	6856;3219;6834;3490;3219;712;617;505;378	ENSP00000350719:R6856Q;ENSP00000349969:R3219Q;ENSP00000341781:R6834Q;ENSP00000450831:R3490Q;ENSP00000378249:R3219Q;ENSP00000451009:R712Q;ENSP00000450605:R617Q;ENSP00000391937:R505Q;ENSP00000396794:R378Q	ENSP00000341781:R6834Q	R	+	2	0	SYNE2	63761840	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CGG		0.647	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		51	184	0	0	0	1	0	51	184				
ZNF502	91392	broad.mit.edu	37	3	44763223	44763223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44763223G>A	ENST00000296091.4	+	4	1170	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q|ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCTTCTTTTCGAAAACACTCA	0.408																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(913-915)cGa>cAa		zinc finger protein 502							160.0	167.0	165.0					3																	44763223		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763223G>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.914G>A	3.37:g.44763223G>A	ENSP00000296091:p.Arg305Gln					ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q|ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q	p.R305Q	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1170	+			305						Missense_Mutation	SNP	ENST00000296091.4	37	c.914G>A	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.531824|2.531824	0.45073|0.45073	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.18338	.|2.22;2.22;2.22	4.27|4.27	2.42|2.42	0.29668|0.29668	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.14570|0.14570	0.0352|0.0352	L|L	0.45698|0.45698	1.435|1.435	0.09310|0.09310	N|N	1|1	.|P	.|0.46987	.|0.888	.|B	.|0.42593	.|0.392	T|T	0.20306|0.20306	-1.0279|-1.0279	6|9	0.33141|0.62326	T|D	0.24|0.03	-0.978|-0.978	2.7889|2.7889	0.05381|0.05381	0.102:0.1842:0.5241:0.1897|0.102:0.1842:0.5241:0.1897	.|.	.|305	.|Q8TBZ5	.|ZN502_HUMAN	K|Q	305|305	.|ENSP00000397390:R305Q;ENSP00000296091:R305Q;ENSP00000406469:R305Q	ENSP00000397812:E305K|ENSP00000296091:R305Q	E|R	+|+	1|2	0|0	ZNF502|ZNF502	44738227|44738227	0.000000|0.000000	0.05858|0.05858	0.261000|0.261000	0.24466|0.24466	0.936000|0.936000	0.57629|0.57629	-0.329000|-0.329000	0.07935|0.07935	0.540000|0.540000	0.28808|0.28808	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		202	859	0	0	0	1	0	202	859				
ALG10	84920	broad.mit.edu	37	12	34178927	34178927	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:34178927T>C	ENST00000266483.2	+	3	818	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	167					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTATTTGATGTGTCTTTATGG	0.338																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(499-501)Tgt>Cgt		ALG10, alpha-1,2-glucosyltransferase							197.0	202.0	200.0					12																	34178927		2203	4299	6502	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34178927T>C	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.499T>C	12.37:g.34178927T>C	ENSP00000266483:p.Cys167Arg					ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	p.C167R	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN			3	818	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	167					Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.499T>C	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145830	0.37923	.	.	ENSG00000139133	ENST00000266483	T	0.56275	0.47	3.13	3.13	0.36017	.	0.145631	0.64402	D	0.000005	T	0.57932	0.2087	M	0.80847	2.515	0.80722	D	1	P	0.49961	0.93	P	0.48982	0.597	T	0.57740	-0.7759	10	0.23302	T	0.38	.	9.6518	0.39902	0.0:0.0:0.0:1.0	.	167	Q5BKT4	AG10A_HUMAN	R	167	ENSP00000266483:C167R	ENSP00000266483:C167R	C	+	1	0	ALG10	34070194	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.762000	0.55250	1.223000	0.43536	0.155000	0.16302	TGT		0.338	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		201	938	0	0	0	1	0	201	938				
EPHA8	2046	broad.mit.edu	37	1	22903205	22903205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903205A>G	ENST00000166244.3	+	3	727	c.655A>G	c.(655-657)Acg>Gcg	p.T219A	EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A|EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	219	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGGCAGTGACGGGGGCCGA	0.637																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(655-657)Acg>Gcg		EPH receptor A8							50.0	47.0	48.0					1																	22903205		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903205A>G	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.655A>G	1.37:g.22903205A>G	ENSP00000166244:p.Thr219Ala					EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A|EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A	p.T219A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	727	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	219			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.655A>G	CCDS225.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940226	0.52972	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.73789	-0.78;5.07;5.07	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.33753	1.03	0.49582	D	0.999805	D;P	0.69078	0.997;0.926	D;P	0.75020	0.985;0.839	T	0.71371	-0.4613	10	0.19147	T	0.46	.	11.8592	0.52457	1.0:0.0:0.0:0.0	.	219;219	P29322;P29322-2	EPHA8_HUMAN;.	A	219	ENSP00000166244:T219A;ENSP00000363775:T219A;ENSP00000440274:T219A	ENSP00000166244:T219A	T	+	1	0	EPHA8	22775792	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	4.957000	0.63652	1.662000	0.50781	0.363000	0.22086	ACG		0.637	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		20	209	0	0	0	1	0	20	209				
CCDC80	151887	broad.mit.edu	37	3	112358493	112358493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112358493C>T	ENST00000206423.3	-	2	1213	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	87					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTGTTGGGCGAGCTAGTCT	0.602																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(259-261)cGc>cAc		coiled-coil domain containing 80							72.0	68.0	70.0					3																	112358493		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358493C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.260G>A	3.37:g.112358493C>T	ENSP00000206423:p.Arg87His					CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H	p.R87H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	1213	-			87					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.260G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755273	0.15846	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.44881	0.91;0.91	5.35	-5.15	0.02866	.	1.257190	0.05262	N	0.515973	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12016	-1.0564	10	0.15499	T	0.54	-0.0491	1.9051	0.03275	0.1164:0.2021:0.2475:0.434	.	98;87;87	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	87	ENSP00000206423:R87H;ENSP00000411814:R87H	ENSP00000206423:R87H	R	-	2	0	CCDC80	113841183	0.000000	0.05858	0.000000	0.03702	0.603000	0.37013	-1.306000	0.02735	-1.383000	0.02106	0.650000	0.86243	CGC		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		57	562	0	0	0	1	0	57	562				
DYNC2H1	79659	broad.mit.edu	37	11	103191850	103191850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103191850C>T	ENST00000375735.2	+	81	11962	c.11818C>T	c.(11818-11820)Ctt>Ttt	p.L3940F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3940					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTTAGAGTTCTTCAGTCATA	0.333																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11818-11820)Ctt>Ttt		dynein, cytoplasmic 2, heavy chain 1							93.0	88.0	90.0					11																	103191850		1816	4080	5896	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103191850C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11818C>T	11.37:g.103191850C>T	ENSP00000364887:p.Leu3940Phe					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F	p.L3940F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	81	11962	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3940					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11818C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204404	0.79127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.12255	2.7;2.7	5.72	5.72	0.89469	Dynein heavy chain (1);	0.134693	0.50627	D	0.000104	T	0.49541	0.1563	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58691	-0.7592	10	0.72032	D	0.01	.	19.8551	0.96755	0.0:1.0:0.0:0.0	.	3940;3947	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	3940;3947;186	ENSP00000364887:L3940F;ENSP00000381167:L3947F	ENSP00000364887:L3940F	L	+	1	0	DYNC2H1	102697060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.626000	0.46460	2.705000	0.92388	0.650000	0.86243	CTT		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		17	73	0	0	0	1	0	17	73				
AGBL1	123624	broad.mit.edu	37	15	87217645	87217645	+	Missense_Mutation	SNP	G	G	A	rs369790993		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87217645G>A	ENST00000441037.2	+	22	3156	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T	AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1021					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGAGGAGGACGCTCTGGACCA	0.532																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(3061-3063)Gct>Act		ATP/GTP binding protein-like 1		G	THR/ALA	0,3976		0,0,1988	40.0	40.0	40.0		3061	-0.5	0.0	15		40	2,8310		0,2,4154	no	missense	AGBL1	NM_152336.2	58	0,2,6142	AA,AG,GG		0.0241,0.0,0.0163	benign	1021/1067	87217645	2,12286	1988	4156	6144	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87217645G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3061G>A	15.37:g.87217645G>A	ENSP00000413001:p.Ala1021Thr					AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T	p.A1021T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			22	3156	+			1021					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.3061G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890460	0.33348	0.0	2.41E-4	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10099	2.92;2.91	5.63	-0.477	0.12097	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.45101	-0.9284	9	0.16420	T	0.52	-0.0733	3.0314	0.06108	0.3053:0.0:0.3541:0.3407	.	1021	Q96MI9	CBPC4_HUMAN	T	1021;752	ENSP00000397173:A1021T;ENSP00000373949:A752T	ENSP00000373949:A752T	A	+	1	0	AGBL1	85018649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.408000	0.07169	0.301000	0.22738	-0.222000	0.12452	GCT		0.532	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		17	90	0	0	0	1	0	17	90				
IGHG2	3501	broad.mit.edu	37	14	106110927	106110927	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106110927G>A	ENST00000390545.2	-	0	200							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGTCACCACGCTGCTGAGGG	0.607																																						ENST00000390545.2																			0																				103.0	99.0	100.0					14																	106110927		2128	4256	6384			0							g.chr14:106110927G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110927G>A														0	200	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.607	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		64	224	0	0	0	1	0	64	224				
COL17A1	1308	broad.mit.edu	37	10	105801279	105801279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105801279C>T	ENST00000353479.5	-	37	2859	c.2569G>A	c.(2569-2571)Ggt>Agt	p.G857S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	857	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGACCTTGTAAATTA	0.522																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2569-2571)Ggt>Agt		collagen, type XVII, alpha 1							23.0	26.0	25.0					10																	105801279		2201	4299	6500	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105801279C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2569G>A	10.37:g.105801279C>T	ENSP00000340937:p.Gly857Ser					COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	p.G857S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	37	2859	-		Colorectal(252;0.103)|Breast(234;0.122)	857			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2569G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188459	0.78789	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.98105	-4.72;-4.72	4.66	4.66	0.58398	.	0.000000	0.47455	D	0.000224	D	0.98836	0.9607	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99013	1.0815	10	0.87932	D	0	-8.0688	13.4278	0.61037	0.0:1.0:0.0:0.0	.	857	Q9UMD9	COHA1_HUMAN	S	857	ENSP00000340937:G857S;ENSP00000358748:G857S	ENSP00000340937:G857S	G	-	1	0	COL17A1	105791269	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.833000	0.62766	2.638000	0.89438	0.491000	0.48974	GGT		0.522	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		26	146	0	0	0	1	0	26	146				
ESF1	51575	broad.mit.edu	37	20	13698151	13698151	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13698151G>T	ENST00000202816.1	-	13	2233	c.2126C>A	c.(2125-2127)gCt>gAt	p.A709D		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	709	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CATAAGCAAAGCCATTTCAGC	0.398																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2125-2127)gCt>gAt		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							137.0	122.0	127.0					20																	13698151		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13698151G>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2126C>A	20.37:g.13698151G>T	ENSP00000202816:p.Ala709Asp						p.A709D	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			13	2233	-			709			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.2126C>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908977	0.52439	.	.	ENSG00000089048	ENST00000202816	T	0.24538	1.85	5.87	4.92	0.64577	.	0.394143	0.25971	N	0.027123	T	0.33933	0.0880	M	0.74258	2.255	0.44234	D	0.997073	P	0.46706	0.883	B	0.41571	0.36	T	0.27088	-1.0084	10	0.39692	T	0.17	1.9035	17.0563	0.86534	0.0:0.1273:0.8727:0.0	.	709	Q9H501	ESF1_HUMAN	D	709	ENSP00000202816:A709D	ENSP00000202816:A709D	A	-	2	0	ESF1	13646151	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.566000	0.67372	1.616000	0.50265	0.655000	0.94253	GCT		0.398	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		23	420	1	0	1.55469e-16	1	1.70887e-16	23	420				
CASP5	838	broad.mit.edu	37	11	104879584	104879584	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104879584G>T	ENST00000260315.3	-	2	130	c.131C>A	c.(130-132)tCt>tAt	p.S44Y	CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000393141.2_Missense_Mutation_p.S57Y|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	44					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTCTGGATAGATGTTTGTCC	0.363																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(169-171)tCt>tAt		caspase 5, apoptosis-related cysteine peptidase							150.0	135.0	140.0					11																	104879584		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879584G>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.131C>A	11.37:g.104879584G>T	ENSP00000260315:p.Ser44Tyr					CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.S44Y|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y	p.S57Y	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	201	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	44			CARD.		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.170C>A	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	4.140	0.024356	0.08054	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.28454	4.56;1.61;4.59;4.56;2.72	1.15	-0.0252	0.13936	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.561;0.688	B;B	0.23150	0.02;0.044	T	0.17992	-1.0351	9	0.87932	D	0	.	2.9172	0.05756	0.6522:0.0:0.3478:0.0	.	44;57	P51878;P51878-5	CASP5_HUMAN;.	Y	57;11;44;57;28	ENSP00000376849:S57Y;ENSP00000376847:S11Y;ENSP00000260315:S44Y;ENSP00000436877:S57Y;ENSP00000415241:S28Y	ENSP00000260315:S44Y	S	-	2	0	CASP5	104384794	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.836000	0.27545	-0.031000	0.13781	-0.312000	0.09012	TCT		0.363	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		57	279	1	0	8.44121e-28	1	9.79253e-28	57	279				
INA	9118	broad.mit.edu	37	10	105036934	105036934	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105036934G>A	ENST00000369849.4	+	0	15					NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha						cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTAGCTCGCGTTGAAGCCGC	0.716																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13								internexin neuronal intermediate filament protein, alpha							12.0	14.0	13.0					10																	105036934		2071	4074	6145			9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105036934G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.-35G>A	10.37:g.105036934G>A								NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	0	15	+								B1AQK0|Q9BRC5	Translation_Start_Site	SNP	ENST00000369849.4	37		CCDS7545.1																																																																																				0.716	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		39	132	0	0	0	1	0	39	132				
DMBT1	1755	broad.mit.edu	37	10	124336170	124336170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124336170G>A	ENST00000338354.3	+	7	645	c.539G>A	c.(538-540)aGc>aAc	p.S180N	DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000368909.3_Missense_Mutation_p.S180N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	180	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCTGTGGAGCTGCCCCCAC	0.577																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(538-540)aGc>aAc		deleted in malignant brain tumors 1							130.0	128.0	128.0					10																	124336170		2041	4193	6234	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336170G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.539G>A	10.37:g.124336170G>A	ENSP00000342210:p.Ser180Asn					DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000368909.3_Missense_Mutation_p.S180N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N	p.S180N			Q9UGM3	DMBT1_HUMAN			7	645	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	180			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.539G>A		.	.	.	.	.	.	.	.	.	.	g	8.383	0.838009	0.16891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.41	-2.83	0.05769	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.285370	0.05954	N	0.639375	T	0.38480	0.1042	N	0.11284	0.12	0.09310	N	0.999996	B;B;B;B;D;B	0.58970	0.069;0.001;0.067;0.002;0.984;0.169	B;B;B;B;D;B	0.63793	0.062;0.007;0.076;0.004;0.918;0.351	T	0.45352	-0.9267	10	0.16420	T	0.52	.	11.3067	0.49340	0.7997:0.0:0.2003:0.0	.	180;180;180;180;180;180	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	N	180	ENSP00000342210:S180N;ENSP00000343175:S180N;ENSP00000327747:S180N;ENSP00000357905:S180N;ENSP00000357951:S180N;ENSP00000357952:S180N;ENSP00000352593:S180N	ENSP00000331522:S180N	S	+	2	0	DMBT1	124326160	0.000000	0.05858	0.951000	0.38953	0.233000	0.25261	-0.058000	0.11750	-0.405000	0.07599	-0.794000	0.03295	AGC		0.577	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		47	529	0	0	0	1	0	47	529				
NOX4	50507	broad.mit.edu	37	11	89133228	89133228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89133228G>A	ENST00000263317.4	-	11	1269	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000535633.1_Missense_Mutation_p.P320L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L|NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	344	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGATACACTGGGACAATGTAG	0.303																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(958-960)cCc>cTc		NADPH oxidase 4							86.0	87.0	86.0					11																	89133228		2201	4298	6499	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133228G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1031C>T	11.37:g.89133228G>A	ENSP00000263317:p.Pro344Leu					NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000263317.4_Missense_Mutation_p.P344L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L	p.P320L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			11	1269	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	344			FAD-binding FR-type.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.959C>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228728	0.79576	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	4.77	4.77	0.60923	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.994;0.997	D;D;D;D;D	0.97110	0.995;0.999;1.0;0.971;0.968	T	0.35798	-0.9774	9	.	.	.	-11.8467	18.1413	0.89641	0.0:0.0:1.0:0.0	.	320;178;319;344;344	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	L	320;320;320;344;344;320;320;320;178;319;365	ENSP00000412446:P320L;ENSP00000440172:P320L;ENSP00000344747:P320L;ENSP00000436892:P344L;ENSP00000263317:P344L;ENSP00000434924:P320L;ENSP00000433797:P320L;ENSP00000439373:P320L;ENSP00000436093:P178L;ENSP00000436970:P319L;ENSP00000405705:P365L	.	P	-	2	0	NOX4	88772876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.237000	0.89807	2.362000	0.80069	0.561000	0.74099	CCC		0.303	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		46	207	0	0	0	1	0	46	207				
KCNV2	169522	broad.mit.edu	37	9	2717904	2717904	+	Silent	SNP	C	C	T	rs373688228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2717904C>T	ENST00000382082.3	+	1	403	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	55					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACTACTACATCGAGGAAGACG	0.642																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(163-165)atC>atT		potassium channel, subfamily V, member 2							146.0	118.0	127.0					9																	2717904		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2717904C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.165C>T	9.37:g.2717904C>T							p.I55I	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	403	+			55					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.165C>T	CCDS6447.1																																																																																				0.642	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		81	436	0	0	0	1	0	81	436				
SH3GL1	6455	broad.mit.edu	37	19	4400336	4400336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4400336G>A	ENST00000269886.3	-	1	208	c.30C>T	c.(28-30)ttC>ttT	p.F10F	SH3GL1_ENST00000417295.2_Silent_p.F10F|SH3GL1_ENST00000598564.1_Silent_p.F10F|CHAF1A_ENST00000301280.5_5'Flank	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	10	Membrane-binding amphipathic helix. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCGCCTTGTAGAACTGCTTCT	0.771			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.(28-30)ttC>ttT		SH3-domain GRB2-like 1							10.0	12.0	11.0					19																	4400336		2131	4172	6303	SO:0001819	synonymous_variant	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4400336G>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.30C>T	19.37:g.4400336G>A						SH3GL1_ENST00000417295.2_Silent_p.F10F|SH3GL1_ENST00000598564.1_Silent_p.F10F	p.F10F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	1	208	-			10			Membrane-binding amphipathic helix (By similarity).		B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	c.30C>T	CCDS32874.1																																																																																				0.771	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		19	180	0	0	0	1	0	19	180				
NOSIP	51070	broad.mit.edu	37	19	50060162	50060162	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060162G>A	ENST00000596358.1	-	6	565	c.507C>T	c.(505-507)ccC>ccT	p.P169P	NOSIP_ENST00000339093.3_Silent_p.P172P|NOSIP_ENST00000391853.3_Silent_p.P169P	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	169					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCTTGGCTTCGGGCGTCAGCG	0.662																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(505-507)ccC>ccT		nitric oxide synthase interacting protein							30.0	31.0	30.0					19																	50060162		2203	4299	6502	SO:0001819	synonymous_variant	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50060162G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.507C>T	19.37:g.50060162G>A						NOSIP_ENST00000596358.1_Silent_p.P169P|NOSIP_ENST00000339093.3_Silent_p.P172P	p.P169P	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	7	658	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	169					Q96FD2	Silent	SNP	ENST00000596358.1	37	c.507C>T	CCDS12772.1																																																																																				0.662	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			22	104	0	0	0	1	0	22	104				
DNAH9	1770	broad.mit.edu	37	17	11645572	11645572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11645572C>T	ENST00000262442.4	+	30	6121	c.6053C>T	c.(6052-6054)tCa>tTa	p.S2018L	AC005701.1_ENST00000584990.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.S2018L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2018	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGCCCAGTCATTAGCCAGA	0.458																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6052-6054)tCa>tTa		dynein, axonemal, heavy chain 9							192.0	168.0	176.0					17																	11645572		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11645572C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6053C>T	17.37:g.11645572C>T	ENSP00000262442:p.Ser2018Leu					DNAH9_ENST00000454412.2_Missense_Mutation_p.S2018L	p.S2018L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	30	6121	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2018			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6053C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	1.172	-0.640598	0.03557	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.4;1.4	5.61	-1.09	0.09904	.	1.252010	0.05540	N	0.565486	T	0.19604	0.0471	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	10	0.02654	T	1	.	11.5605	0.50774	0.0:0.5102:0.0:0.4898	.	2018	Q9NYC9	DYH9_HUMAN	L	2018;2018;600	ENSP00000262442:S2018L;ENSP00000414874:S2018L	ENSP00000262442:S2018L	S	+	2	0	DNAH9	11586297	0.000000	0.05858	0.001000	0.08648	0.857000	0.48899	0.755000	0.26405	-0.064000	0.13043	-0.322000	0.08575	TCA		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		87	390	0	0	0	1	0	87	390				
C10orf76	79591	broad.mit.edu	37	10	103766356	103766356	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103766356A>G	ENST00000370033.4	-	14	1108	c.989T>C	c.(988-990)gTc>gCc	p.V330A		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	330						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTGACAGGGGTCGT	0.483																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(988-990)gTc>gCc		chromosome 10 open reading frame 76							127.0	136.0	133.0					10																	103766356		1967	4164	6131	SO:0001583	missense	79591					integral to membrane		g.chr10:103766356A>G	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.989T>C	10.37:g.103766356A>G	ENSP00000359050:p.Val330Ala						p.V330A	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	14	1108	-		Colorectal(252;0.123)	330					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.989T>C	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	4.934	0.173538	0.09391	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.92	3.4	0.38934	.	0.576877	0.19762	N	0.106659	T	0.13756	0.0333	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08066	-1.0740	9	0.08381	T	0.77	-7.7272	2.1276	0.03742	0.5865:0.1339:0.1506:0.129	.	330	Q5T2E6	CJ076_HUMAN	A	330	.	ENSP00000359050:V330A	V	-	2	0	C10orf76	103756346	0.292000	0.24362	1.000000	0.80357	0.935000	0.57460	1.817000	0.39002	1.020000	0.39573	0.533000	0.62120	GTC		0.483	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		103	443	0	0	0	1	0	103	443				
PIK3CD	5293	broad.mit.edu	37	1	9781612	9781612	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781612G>T	ENST00000377346.4	+	15	2117	c.1922G>T	c.(1921-1923)cGc>cTc	p.R641L	PIK3CD_ENST00000536656.1_Missense_Mutation_p.R665L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R665L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.R308L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	641	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CTGGCCAACCGCAAGATCGGC	0.622											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1993-1995)cGc>cTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							56.0	58.0	57.0					1																	9781612		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9781612G>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1922G>T	1.37:g.9781612G>T	ENSP00000366563:p.Arg641Leu		OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R665L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.R308L|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R641L	p.R665L			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	15	2202	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	641					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.1994G>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556184	0.45487	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.72	3.87	0.44632	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.161426	0.52532	D	0.000071	T	0.69415	0.3108	L	0.45698	1.435	0.43099	D	0.994787	P;D;P	0.64830	0.891;0.994;0.942	P;P;P	0.62740	0.745;0.906;0.805	T	0.70988	-0.4722	10	0.72032	D	0.01	-40.8581	11.4631	0.50221	0.1442:0.0:0.8558:0.0	.	640;665;641	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	L	665;641;665;665;308	ENSP00000446444:R665L;ENSP00000366563:R641L;ENSP00000354410:R665L;ENSP00000443811:R308L	ENSP00000353766:R665L	R	+	2	0	PIK3CD	9704199	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	5.817000	0.69229	0.792000	0.33850	-0.142000	0.14014	CGC		0.622	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		14	200	1	0	3.27435e-08	1	3.41456e-08	14	200				
PEAR1	375033	broad.mit.edu	37	1	156876547	156876547	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156876547C>T	ENST00000338302.3	+	7	744	c.519C>T	c.(517-519)aaC>aaT	p.N173N	PEAR1_ENST00000292357.7_Silent_p.N173N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	173					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCCCGAACTGCCTTCAGC	0.632																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(517-519)aaC>aaT		platelet endothelial aggregation receptor 1							140.0	121.0	127.0					1																	156876547		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156876547C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.519C>T	1.37:g.156876547C>T						PEAR1_ENST00000292357.7_Silent_p.N173N	p.N173N			Q5VY43	PEAR1_HUMAN			7	744	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		173					Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.519C>T	CCDS30892.1																																																																																				0.632	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		149	475	0	0	0	1	0	149	475				
ITGA6	3655	broad.mit.edu	37	2	173368845	173368845	+	Silent	SNP	C	C	T	rs377166246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173368845C>T	ENST00000264106.6	+	26	3461	c.3258C>T	c.(3256-3258)taC>taT	p.Y1086Y	ITGA6_ENST00000264107.7_3'UTR|ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000409080.1_Silent_p.Y1047Y|AC093818.1_ENST00000442417.1_RNA|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000375221.2_3'UTR			P23229	ITA6_HUMAN	integrin, alpha 6	1086					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCTCTAGGTACGATGACAGTG	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19287	0.0		0.0	False		,,,				2504	0.0					ENST00000264106.6																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(3256-3258)taC>taT		integrin, alpha 6		C	,	1,3697		0,1,1848	55.0	50.0	51.0		,3141	6.0	1.0	2		51	1,8197		0,1,4098	no	utr-3,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,2,5946	TT,TC,CC		0.0122,0.027,0.0168	,	,1047/1092	173368845	2,11894	1849	4099	5948	SO:0001819	synonymous_variant	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173368845C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3258C>T	2.37:g.173368845C>T						ITGA6_ENST00000409080.1_Silent_p.Y1047Y|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000409532.1_3'UTR|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000264107.7_3'UTR	p.Y1086Y			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		26	3461	+			1086					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.3258C>T																																																																																					0.378	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				16	48	0	0	0	1	0	16	48				
SP140	11262	broad.mit.edu	37	2	231174738	231174738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231174738C>T	ENST00000392045.3	+	23	2272	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	SP140_ENST00000420434.3_Missense_Mutation_p.P693S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000343805.6_Missense_Mutation_p.P660S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	720					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCACATCCCGCCTGTGGAAGC	0.547																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(2158-2160)Cct>Tct		SP140 nuclear body protein							115.0	125.0	122.0					2																	231174738		2186	4296	6482	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231174738C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2158C>T	2.37:g.231174738C>T	ENSP00000375899:p.Pro720Ser					SP140_ENST00000343805.6_Missense_Mutation_p.P660S|SP140_ENST00000420434.3_Missense_Mutation_p.P693S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S	p.P720S	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	23	2272	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	720					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.2158C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180769	0.21787	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	2.91	0.963	0.19649	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	D	0.86990	0.6066	L	0.52126	1.63	0.09310	N	1	D;D;D;P	0.89917	1.0;0.993;0.996;0.757	D;D;D;P	0.83275	0.996;0.968;0.986;0.457	T	0.73871	-0.3846	9	0.44086	T	0.13	-1.6218	4.0335	0.09719	0.0:0.6115:0.2464:0.1421	.	693;606;660;720	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	644;589;720;606;660;693	ENSP00000440107:P644S;ENSP00000345846:P589S;ENSP00000375899:P720S;ENSP00000342096:P660S;ENSP00000398210:P693S	ENSP00000342096:P660S	P	+	1	0	SP140	230882982	0.000000	0.05858	0.070000	0.20053	0.074000	0.17049	0.115000	0.15540	0.255000	0.21593	0.456000	0.33151	CCT		0.547	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		33	374	0	0	0	1	0	33	374				
LOXL4	84171	broad.mit.edu	37	10	100021971	100021971	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100021971C>A	ENST00000260702.3	-	3	428		c.e3-1			NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGATGGGTCCTGTGGAGTGG	0.572																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.e3-1		lysyl oxidase-like 4							56.0	52.0	53.0					10																	100021971		2203	4300	6503	SO:0001630	splice_region_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100021971C>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.278-1G>T	10.37:g.100021971C>A								NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	3	428	-		Colorectal(252;0.234)						Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Splice_Site	SNP	ENST00000260702.3	37		CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203068	0.79127	.	.	ENSG00000138131	ENST00000260702	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6443	0.88145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LOXL4	100011961	1.000000	0.71417	0.932000	0.37286	0.868000	0.49771	7.598000	0.82745	2.157000	0.67596	0.561000	0.74099	.		0.572	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211	Intron	38	154	1	0	9.8876e-21	1	1.10988e-20	38	154				
ESCO2	157570	broad.mit.edu	37	8	27634227	27634227	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27634227G>A	ENST00000305188.8	+	3	640	c.402G>A	c.(400-402)aaG>aaA	p.K134K	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	134					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCTGCTCCAAGAAGAACAACA	0.338									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(400-402)aaG>aaA		establishment of sister chromatid cohesion N-acetyltransferase 2							57.0	55.0	55.0					8																	27634227		2203	4300	6503	SO:0001819	synonymous_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634227G>A	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.402G>A	8.37:g.27634227G>A						ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	p.K134K	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	640	+		Ovarian(32;0.000953)	134					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.402G>A	CCDS34872.1																																																																																				0.338	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		50	186	0	0	0	1	0	50	186				
EVPL	2125	broad.mit.edu	37	17	74003558	74003558	+	Missense_Mutation	SNP	C	C	T	rs192983471	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003558C>T	ENST00000301607.3	-	22	5981	c.5728G>A	c.(5728-5730)Gtc>Atc	p.V1910I	EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1910	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTTGGTGACGGGGTCCTCG	0.652													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17467	0.001		0.0	False		,,,				2504	0.0					ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5728-5730)Gtc>Atc		envoplakin							62.0	54.0	57.0					17																	74003558		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003558C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5728G>A	17.37:g.74003558C>T	ENSP00000301607:p.Val1910Ile					EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I	p.V1910I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5981	-			1910			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5728G>A	CCDS11737.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.53	2.265785	0.40095	.	.	ENSG00000167880	ENST00000301607	T	0.73258	-0.73	5.48	5.48	0.80851	.	0.125190	0.56097	D	0.000039	T	0.69242	0.3089	N	0.19112	0.55	0.33918	D	0.640524	B;D	0.71674	0.059;0.998	B;P	0.55011	0.029;0.766	T	0.71820	-0.4477	10	0.23302	T	0.38	-58.9386	19.3612	0.94438	0.0:1.0:0.0:0.0	.	1932;1910	B7ZLH8;Q92817	.;EVPL_HUMAN	I	1910	ENSP00000301607:V1910I	ENSP00000301607:V1910I	V	-	1	0	EVPL	71515153	0.682000	0.27624	0.973000	0.42090	0.878000	0.50629	1.257000	0.32932	2.564000	0.86499	0.561000	0.74099	GTC		0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		64	313	0	0	0	1	0	64	313				
CROCCP2	84809	broad.mit.edu	37	1	16956733	16956733	+	lincRNA	SNP	G	G	A	rs561554333	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16956733G>A	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ACTAGCCTACGCTAGGCGGGG	0.637													.|||	2	0.000399361	0.0	0.0014	5008	,	,		56538	0.001		0.0	False		,,,				2504	0.0					ENST00000412962.1																			0																																																			0							g.chr1:16956733G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956733G>A														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.637	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	91	0	0	0	1	0	4	91				
RBM26	64062	broad.mit.edu	37	13	79952975	79952975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79952975T>C	ENST00000438737.2	-	2	579	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	RBM26_ENST00000267229.7_Missense_Mutation_p.K47E|RBM26_ENST00000438724.1_Missense_Mutation_p.K47E			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	47					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTTAACTCTTTTTCACTTTTG	0.299																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(139-141)Aaa>Gaa		RNA binding motif protein 26							97.0	87.0	91.0					13																	79952975		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79952975T>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.139A>G	13.37:g.79952975T>C	ENSP00000387531:p.Lys47Glu					RBM26_ENST00000267229.7_Missense_Mutation_p.K47E|RBM26_ENST00000438724.1_Missense_Mutation_p.K47E	p.K47E			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	2	579	-		Acute lymphoblastic leukemia(28;0.0279)	47					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.139A>G		.	.	.	.	.	.	.	.	.	.	T	15.72	2.916933	0.52546	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.41758	0.99;0.99	5.78	5.78	0.91487	Splicing factor PWI (2);	0.053396	0.64402	D	0.000001	T	0.29882	0.0747	N	0.11818	0.18	0.58432	D	0.999999	B;P;P;P	0.45348	0.065;0.827;0.856;0.827	B;B;P;B	0.45753	0.053;0.359;0.492;0.359	T	0.07947	-1.0746	9	.	.	.	-19.0217	12.0245	0.53362	0.0:0.0:0.144:0.856	.	47;47;47;47	Q5T8P6-6;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	E	47;48;47;47	ENSP00000267229:K47E;ENSP00000390222:K47E	.	K	-	1	0	RBM26	78850976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.193000	0.72075	2.214000	0.71695	0.528000	0.53228	AAA		0.299	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		36	124	0	0	0	1	0	36	124				
LOC101927209	101927209	broad.mit.edu	37	1	142713918	142713918	+	lincRNA	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:142713918A>T	ENST00000610091.1	-	0	1740																											CTAGTATGCAATAAAATAACA	0.303																																						ENST00000369381.2																			0																																																			0							g.chr1:142713918A>T																													1.37:g.142713918A>T														0	687	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.303	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			19	188	0	0	0	1	0	19	188				
RIC8B	55188	broad.mit.edu	37	12	107208523	107208523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107208523C>T	ENST00000392839.2	+	3	288	c.182C>T	c.(181-183)aCa>aTa	p.T61I	RIC8B_ENST00000392837.4_Missense_Mutation_p.T61I|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	61					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						ATCCCAACAACATGTCAAGTG	0.388																																						ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(181-183)aCa>aTa		RIC8 guanine nucleotide exchange factor B							93.0	88.0	89.0					12																	107208523		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107208523C>T	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.182C>T	12.37:g.107208523C>T	ENSP00000376583:p.Thr61Ile					RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I|RIC8B_ENST00000392839.2_Missense_Mutation_p.T61I	p.T61I			Q9NVN3	RIC8B_HUMAN			3	333	+			61					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.182C>T	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100814	0.37048	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478;ENST00000552619	T;T;T;T	0.66460	0.94;0.94;0.94;-0.21	5.36	5.36	0.76844	Armadillo-type fold (1);	0.455332	0.26352	N	0.024867	T	0.51210	0.1661	N	0.08118	0	0.80722	D	1	B;B;B	0.20988	0.05;0.029;0.037	B;B;B	0.18871	0.023;0.016;0.014	T	0.50101	-0.8867	10	0.59425	D	0.04	-5.3945	19.457	0.94897	0.0:1.0:0.0:0.0	.	21;61;61	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	I	61;61;21;45	ENSP00000376582:T61I;ENSP00000376583:T61I;ENSP00000347662:T21I;ENSP00000448743:T45I	ENSP00000347662:T21I	T	+	2	0	RIC8B	105732653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.676000	0.91093	0.655000	0.94253	ACA		0.388	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		83	342	0	0	0	1	0	83	342				
ZNF791	163049	broad.mit.edu	37	19	12739034	12739034	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12739034A>T	ENST00000343325.4	+	4	853	c.691A>T	c.(691-693)Att>Ttt	p.I231F	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TTCCAGTTCTATTCGAGTACA	0.423																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(691-693)Att>Ttt		zinc finger protein 791							60.0	58.0	59.0					19																	12739034		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739034A>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.691A>T	19.37:g.12739034A>T	ENSP00000342974:p.Ile231Phe					ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F	p.I231F	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	853	+			231					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.691A>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	6.249	0.413989	0.11870	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.08282	3.11;3.11;3.11	1.83	0.603	0.17541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.03294	-0.36	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.42766	-0.9432	9	0.40728	T	0.16	.	2.4812	0.04587	0.3467:0.4553:0.0:0.198	.	231	Q3KP31	ZN791_HUMAN	F	231;213;199;122	ENSP00000342974:I231F;ENSP00000441761:I199F;ENSP00000441038:I122F	ENSP00000342974:I231F	I	+	1	0	ZNF791	12600034	0.004000	0.15560	0.980000	0.43619	0.804000	0.45430	0.000000	0.12993	0.036000	0.15547	0.402000	0.26972	ATT		0.423	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		65	253	0	0	0	1	0	65	253				
C6orf15	29113	broad.mit.edu	37	6	31079554	31079554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079554G>A	ENST00000259870.3	-	2	585	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	194					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACCAGGGAGGGCGTTGGGAAA	0.617																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(580-582)cgC>cgT		chromosome 6 open reading frame 15							32.0	33.0	33.0					6																	31079554		1747	3386	5133	SO:0001819	synonymous_variant	29113							g.chr6:31079554G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.582C>T	6.37:g.31079554G>A							p.R194R	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	585	-			194					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.582C>T	CCDS4693.1																																																																																				0.617	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		60	222	0	0	0	1	0	60	222				
AQP8	343	broad.mit.edu	37	16	25228637	25228637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25228637G>A	ENST00000219660.5	+	2	256	c.131G>A	c.(130-132)gGc>gAc	p.G44D	AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	44					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAACTGCTGGGCTCTGCTCTC	0.622																																						ENST00000219660.5																			0				NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(130-132)gGc>gAc		aquaporin 8							202.0	194.0	197.0					16																	25228637		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25228637G>A	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.131G>A	16.37:g.25228637G>A	ENSP00000219660:p.Gly44Asp					AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	p.G44D	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	2	256	+			44					Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.131G>A	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850675	0.91277	.	.	ENSG00000103375	ENST00000219660	D	0.96856	-4.15	5.52	5.52	0.82312	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	10	0.87932	D	0	-18.2355	18.0064	0.89211	0.0:0.0:1.0:0.0	.	44	O94778	AQP8_HUMAN	D	44	ENSP00000219660:G44D	ENSP00000219660:G44D	G	+	2	0	AQP8	25136138	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.267000	0.95665	2.595000	0.87683	0.555000	0.69702	GGC		0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		286	1224	0	0	0	1	0	286	1224				
KCNA4	3739	broad.mit.edu	37	11	30033990	30033990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033990C>T	ENST00000328224.6	-	2	1469	c.236G>A	c.(235-237)aGc>aAc	p.S79N	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	79					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACTACCCCGGCTGCTCTGAGG	0.652																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(235-237)aGc>aAc		potassium voltage-gated channel, shaker-related subfamily, member 4							42.0	44.0	44.0					11																	30033990		1993	4172	6165	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033990C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.236G>A	11.37:g.30033990C>T	ENSP00000328511:p.Ser79Asn						p.S79N	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1469	-			79						Missense_Mutation	SNP	ENST00000328224.6	37	c.236G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964396	0.53507	.	.	ENSG00000182255	ENST00000328224	D	0.96967	-4.19	4.84	4.84	0.62591	.	5.024710	0.01841	U	0.035344	D	0.93785	0.8013	N	0.19112	0.55	0.52501	D	0.999956	B	0.15473	0.013	B	0.14023	0.01	T	0.63616	-0.6597	10	0.18276	T	0.48	.	17.9672	0.89102	0.0:1.0:0.0:0.0	.	79	P22459	KCNA4_HUMAN	N	79	ENSP00000328511:S79N	ENSP00000328511:S79N	S	-	2	0	KCNA4	29990566	0.994000	0.37717	0.098000	0.21074	0.950000	0.60333	3.249000	0.51437	2.239000	0.73571	0.561000	0.74099	AGC		0.652	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		12	426	0	0	0	1	0	12	426				
AGBL2	79841	broad.mit.edu	37	11	47732006	47732006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47732006G>T	ENST00000525123.1	-	4	440	c.155C>A	c.(154-156)cCt>cAt	p.P52H	AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	52						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P52H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAGGCATTGAGGGTTATTCTT	0.433																																						ENST00000525123.1																			1	Substitution - Missense(1)	p.P52H(1)	lung(1)	NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(154-156)cCt>cAt		ATP/GTP binding protein-like 2							135.0	125.0	129.0					11																	47732006		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47732006G>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.155C>A	11.37:g.47732006G>T	ENSP00000435582:p.Pro52His					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H|AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H	p.P52H	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			4	440	-			52					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.155C>A	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179860	0.38511	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.82	4.82	0.62117	.	0.733796	0.12627	N	0.452554	T	0.57636	0.2067	M	0.67953	2.075	0.22412	N	0.999123	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.56514	0.8;0.707;0.707	T	0.51949	-0.8640	10	0.87932	D	0	-3.1881	13.4672	0.61260	0.0:0.0:1.0:0.0	.	52;52;52	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	H	52;52;52;52;52;52;32;52	ENSP00000435582:P52H;ENSP00000350228:P52H;ENSP00000298861:P52H;ENSP00000436630:P52H;ENSP00000436063:P52H;ENSP00000432264:P32H;ENSP00000436518:P52H	ENSP00000298861:P52H	P	-	2	0	AGBL2	47688582	1.000000	0.71417	0.148000	0.22405	0.069000	0.16628	4.127000	0.57944	2.239000	0.73571	0.585000	0.79938	CCT		0.433	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		83	393	1	0	4.18771e-30	1	4.90557e-30	83	393				
OR10G3	26533	broad.mit.edu	37	14	22038099	22038099	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22038099G>A	ENST00000303532.1	-	1	776	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCCTCAGGTAGATGAAGGCAC	0.582																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(775-777)atC>atT		olfactory receptor, family 10, subfamily G, member 3							81.0	85.0	83.0					14																	22038099		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038099G>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.777C>T	14.37:g.22038099G>A							p.I259I	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	776	-	all_cancers(95;0.000987)		259					Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.777C>T	CCDS32046.1																																																																																				0.582	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			110	503	0	0	0	1	0	110	503				
CSTF1	1477	broad.mit.edu	37	20	54978770	54978770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54978770C>T	ENST00000217109.4	+	6	1635	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	428					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TACCGGAGATCGACCACTGAC	0.582																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(1282-1284)tCg>tTg		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							135.0	126.0	129.0					20																	54978770		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54978770C>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1283C>T	20.37:g.54978770C>T	ENSP00000217109:p.Ser428Leu					CSTF1_ENST00000493039.1_3'UTR	p.S428L	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		6	1635	+			428					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.1283C>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166648	0.57476	.	.	ENSG00000101138	ENST00000217109;ENST00000425890	T	0.57907	0.37	5.38	5.38	0.77491	WD40-repeat-containing domain (1);	0.054825	0.85682	D	0.000000	T	0.48259	0.1490	L	0.38175	1.15	0.58432	D	0.999999	B	0.15930	0.015	B	0.12156	0.007	T	0.43261	-0.9402	10	0.72032	D	0.01	-2.8483	19.5609	0.95371	0.0:1.0:0.0:0.0	.	428	Q05048	CSTF1_HUMAN	L	428;415	ENSP00000217109:S428L	ENSP00000217109:S428L	S	+	2	0	CSTF1	54412177	1.000000	0.71417	0.566000	0.28421	0.362000	0.29581	7.591000	0.82666	2.682000	0.91365	0.644000	0.83932	TCG		0.582	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		23	593	0	0	0	1	0	23	593				
CIB1	10519	broad.mit.edu	37	15	90771863	90771863	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771863C>A	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000332496.6_Missense_Mutation_p.D834E|SEMA4B_ENST00000411539.2_Missense_Mutation_p.D834E|SEMA4B_ENST00000379122.3_Intron	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)	p.C821fs*>1(1)		lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGATCCGTGACTCTGTGGTGT	0.627																																						ENST00000411539.2																			1	Deletion - Frameshift(1)	p.C821fs*>1(1)	breast(1)	NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(2500-2502)gaC>gaA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							34.0	40.0	38.0					15																	90771863		2152	4237	6389	SO:0001628	intergenic_variant	10509							g.chr15:90771863C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771863C>A						SEMA4B_ENST00000332496.6_Missense_Mutation_p.D834E|SEMA4B_ENST00000379122.3_Intron	p.D834E	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		14	2762	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.2502C>A	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.750998	0.69533	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.31247	1.5;1.5	4.57	2.68	0.31781	.	0.165499	0.51477	D	0.000100	T	0.39358	0.1075	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.17653	-1.0362	10	0.87932	D	0	.	7.6908	0.28567	0.0:0.7393:0.0:0.2607	.	834;829	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	E	834	ENSP00000332204:D834E;ENSP00000394720:D834E	ENSP00000332204:D834E	D	+	3	2	SEMA4B	88572867	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.720000	0.47252	0.651000	0.30788	0.561000	0.74099	GAC		0.627	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			59	275	1	0	6.1719e-39	1	7.45173e-39	59	275				
NCAPD3	23310	broad.mit.edu	37	11	134074865	134074865	+	Splice_Site	SNP	C	C	T	rs112640641		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134074865C>T	ENST00000534548.2	-	9	1082	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	340					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCCACAAGGGCGCTTTGTAAA	0.383																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e9-1		non-SMC condensin II complex, subunit D3							119.0	119.0	119.0					11																	134074865		2201	4297	6498	SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134074865C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1017-1G>A	11.37:g.134074865C>T							p.A340_splice	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	9	1082	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	340					A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	37	c.1016_splice	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329475	0.24167	.	.	ENSG00000151503	ENST00000534548	T	0.04706	3.57	5.54	3.17	0.36434	Armadillo-type fold (1);	0.659510	0.16079	N	0.230607	T	0.03011	0.0089	N	0.08118	0	0.31644	N	0.647619	B	0.19445	0.036	B	0.11329	0.006	T	0.29640	-1.0005	10	0.22706	T	0.39	-1.2962	12.446	0.55651	0.7319:0.268:0.0:0.0	.	340	P42695	CNDD3_HUMAN	T	340	ENSP00000433681:A340T	ENSP00000431612:A340T	A	-	1	0	NCAPD3	133580075	0.978000	0.34361	0.053000	0.19242	0.026000	0.11368	2.460000	0.45031	0.366000	0.24427	-0.364000	0.07487	GCC		0.383	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Missense_Mutation	56	304	0	0	0	1	0	56	304				
FRMPD1	22844	broad.mit.edu	37	9	37744622	37744622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744622G>A	ENST00000539465.1	+	16	3186	c.2593G>A	c.(2593-2595)Gac>Aac	p.D865N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	865						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGTGTAGACGACGTGTGCTA	0.577																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2593-2595)Gac>Aac		FERM and PDZ domain containing 1							79.0	76.0	77.0					9																	37744622		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744622G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2593G>A	9.37:g.37744622G>A	ENSP00000444411:p.Asp865Asn					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N	p.D865N			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3186	+			865					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2593G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146103	0.21288	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07908	3.15;3.15	5.26	1.02	0.19986	.	0.517604	0.20831	N	0.084881	T	0.07188	0.0182	L	0.44542	1.39	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.37174	-0.9717	10	0.22109	T	0.4	-3.6729	10.0835	0.42404	0.0903:0.5934:0.3162:0.0	.	865	Q5SYB0	FRPD1_HUMAN	N	865	ENSP00000366995:D865N;ENSP00000444411:D865N	ENSP00000366995:D865N	D	+	1	0	FRMPD1	37734622	0.020000	0.18652	0.007000	0.13788	0.649000	0.38597	2.070000	0.41491	0.202000	0.20498	0.561000	0.74099	GAC		0.577	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		48	209	0	0	0	1	0	48	209				
HMGCR	3156	broad.mit.edu	37	5	74655331	74655331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74655331G>T	ENST00000287936.4	+	18	2563	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	803	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TATAGAGATAGGAACGGTGGG	0.448																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(2407-2409)Gga>Tga		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						80.0	82.0	81.0					5																	74655331		2203	4300	6503	SO:0001587	stop_gained	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74655331G>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2407G>T	5.37:g.74655331G>T	ENSP00000287936:p.Gly803*					HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*	p.G803*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	18	2563	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	803			Catalytic.		B7Z3Y9|Q8N190	Nonsense_Mutation	SNP	ENST00000287936.4	37	c.2407G>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	40	7.964543	0.98585	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.2011	17.8148	0.88628	0.0:0.0:1.0:0.0	.	.	.	.	X	803;734;803;750;180	.	ENSP00000287936:G803X	G	+	1	0	HMGCR	74691087	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.592000	0.98245	2.416000	0.81992	0.655000	0.94253	GGA		0.448	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			11	247	1	0	1.58986e-06	1	1.64048e-06	11	247				
EPHB3	2049	broad.mit.edu	37	3	184290757	184290757	+	Missense_Mutation	SNP	G	G	A	rs187877110	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290757G>A	ENST00000330394.2	+	3	1101	c.649G>A	c.(649-651)Gca>Aca	p.A217T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	217	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.A217T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATCCACCACCGCAGGCTTCGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		19936	0.002		0.0	False		,,,				2504	0.0					ENST00000330394.2																			1	Substitution - Missense(1)	p.A217T(1)	stomach(1)	breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(649-651)Gca>Aca		EPH receptor B3							56.0	58.0	57.0					3																	184290757		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184290757G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.649G>A	3.37:g.184290757G>A	ENSP00000332118:p.Ala217Thr					EIF2B5_ENST00000444495.1_Intron	p.A217T	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		3	1101	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		217			Cys-rich.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.649G>A	CCDS3268.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.4	4.638959	0.87760	.	.	ENSG00000182580	ENST00000330394	T	0.73258	-0.73	5.27	5.27	0.74061	.	0.056206	0.64402	D	0.000001	T	0.78824	0.4344	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79706	-0.1691	10	0.52906	T	0.07	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	217	P54753	EPHB3_HUMAN	T	217	ENSP00000332118:A217T	ENSP00000332118:A217T	A	+	1	0	EPHB3	185773451	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	7.872000	0.87187	2.445000	0.82738	0.561000	0.74099	GCA		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		71	345	0	0	0	1	0	71	345				
HOXA13	3209	broad.mit.edu	37	7	27239044	27239044	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27239044G>A	ENST00000222753.4	-	1	681	c.653C>T	c.(652-654)gCc>gTc	p.A218V	HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	218					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GAACTCCTCGGCAGCTGGGCC	0.692			T	NUP98	AML																																	ENST00000222753.4				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(652-654)gCc>gTc		homeobox A13							33.0	35.0	34.0					7																	27239044		2203	4299	6502	SO:0001583	missense	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27239044G>A		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.653C>T	7.37:g.27239044G>A	ENSP00000222753:p.Ala218Val					HOTTIP_ENST00000421733.1_RNA	p.A218V	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN			1	681	-			218					A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	37	c.653C>T	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698676	0.88830	.	.	ENSG00000106031	ENST00000222753	T	0.45276	0.9	4.11	3.19	0.36642	.	0.115129	0.56097	D	0.000034	T	0.40094	0.1103	L	0.33245	0.995	0.30730	N	0.747292	P	0.42961	0.795	P	0.50270	0.636	T	0.43605	-0.9381	10	0.87932	D	0	.	7.8364	0.29371	0.0:0.3133:0.5316:0.1551	.	218	P31271	HXA13_HUMAN	V	218	ENSP00000222753:A218V	ENSP00000222753:A218V	A	-	2	0	HOXA13	27205569	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	2.709000	0.47160	0.794000	0.33899	0.456000	0.33151	GCC		0.692	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			59	232	0	0	0	1	0	59	232				
SLC18A2	6571	broad.mit.edu	37	10	119003516	119003516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003516G>A	ENST00000298472.5	+	3	299	c.156G>A	c.(154-156)aaG>aaA	p.K52K	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	52					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACAGCATTAAGCATGAGAAGA	0.488																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(154-156)aaG>aaA		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						66.0	58.0	61.0					10																	119003516		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003516G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.156G>A	10.37:g.119003516G>A						SLC18A2_ENST00000497497.1_3'UTR	p.K52K	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	299	+		Colorectal(252;0.19)	52					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.156G>A	CCDS7599.1																																																																																				0.488	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		30	124	0	0	0	1	0	30	124				
PROX1	5629	broad.mit.edu	37	1	214170732	214170732	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170732A>G	ENST00000366958.4	+	2	1462	c.854A>G	c.(853-855)gAt>gGt	p.D285G	PROX1_ENST00000435016.1_Missense_Mutation_p.D285G|PROX1_ENST00000261454.4_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	285					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGATCCTGGATGCCAGGGCC	0.512																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(853-855)gAt>gGt		prospero homeobox 1							65.0	67.0	67.0					1																	214170732		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170732A>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.854A>G	1.37:g.214170732A>G	ENSP00000355925:p.Asp285Gly					PROX1_ENST00000435016.1_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G|PROX1_ENST00000261454.4_Missense_Mutation_p.D285G	p.D285G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1462	+			285					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.854A>G	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	8.881	0.951668	0.18431	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.74	5.74	0.90152	.	0.646468	0.17515	N	0.171458	T	0.42223	0.1193	L	0.43152	1.355	0.54753	D	0.999988	B	0.02656	0.0	B	0.08055	0.003	T	0.21381	-1.0247	10	0.21540	T	0.41	-0.4293	16.0486	0.80740	1.0:0.0:0.0:0.0	.	285	Q92786	PROX1_HUMAN	G	285	ENSP00000420283:D285G;ENSP00000355925:D285G;ENSP00000400694:D285G;ENSP00000261454:D285G	ENSP00000261454:D285G	D	+	2	0	PROX1	212237355	1.000000	0.71417	0.929000	0.37066	0.990000	0.78478	7.327000	0.79147	2.183000	0.69458	0.533000	0.62120	GAT		0.512	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		81	247	0	0	0	1	0	81	247				
MMS19	64210	broad.mit.edu	37	10	99236652	99236652	+	Missense_Mutation	SNP	G	G	A	rs143513996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99236652G>A	ENST00000438925.2	-	7	897	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000327238.10_Missense_Mutation_p.R188C|MMS19_ENST00000483626.1_5'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	188					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGAAGATTACGGGGATCCTTT	0.488								Direct reversal of damage					G|||	1	0.000199681	0.0	0.0	5008	,	,		19717	0.0		0.0	False		,,,				2504	0.001					ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(562-564)Cgt>Tgt	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	100.0	105.0		562	5.6	1.0	10	dbSNP_134	105	0,8600		0,0,4300	no	missense	MMS19	NM_022362.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	188/1031	99236652	1,13005	2203	4300	6503	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99236652G>A	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.562C>T	10.37:g.99236652G>A	ENSP00000412698:p.Arg188Cys					MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C|MMS19_ENST00000327238.10_Missense_Mutation_p.R188C	p.R188C	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	7	897	-		Colorectal(252;0.0846)	188					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.562C>T	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430733	0.96150	2.27E-4	0.0	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000437002;ENST00000422685	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75777	-0.3198	10	0.87932	D	0	.	19.4839	0.95022	0.0:0.0:1.0:0.0	.	188;188	Q96T76-5;Q96T76	.;MMS19_HUMAN	C	188;188;188;167;188;227	ENSP00000412698:R188C;ENSP00000359818:R188C;ENSP00000320059:R188C;ENSP00000409425:R188C;ENSP00000391765:R227C	ENSP00000320059:R188C	R	-	1	0	MMS19	99226642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.423000	0.73361	2.611000	0.88343	0.650000	0.86243	CGT		0.488	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			57	244	0	0	0	1	0	57	244				
NUDT17	200035	broad.mit.edu	37	1	145587350	145587350	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145587350G>A	ENST00000334513.5	-	6	741	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	244							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTACTTACAGGACAGAGGGT	0.522																																						ENST00000334513.5																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9						c.e6+1		nudix (nucleoside diphosphate linked moiety X)-type motif 17							66.0	66.0	66.0					1																	145587350		2203	4300	6503	SO:0001630	splice_region_variant	200035						hydrolase activity|metal ion binding	g.chr1:145587350G>A	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.731+1C>T	1.37:g.145587350G>A							p.L244_splice	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN			6	741	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		244						Splice_Site	SNP	ENST00000334513.5	37	c.731_splice	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169640	0.09339	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.84	0.521	0.17046	.	1.078730	0.07151	N	0.849176	T	0.08891	0.0220	L	0.36672	1.1	0.09310	N	1	B	0.33379	0.41	B	0.32465	0.146	T	0.32798	-0.9893	9	0.23302	T	0.38	9.6337	2.9457	0.05845	0.091:0.149:0.3038:0.4563	.	244	P0C025	NUD17_HUMAN	F	244	.	ENSP00000334437:L244F	L	-	1	0	NUDT17	144298707	0.002000	0.14202	0.019000	0.16419	0.939000	0.58152	0.317000	0.19487	-0.057000	0.13199	0.655000	0.94253	CTT		0.522	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395	Missense_Mutation	82	214	0	0	0	1	0	82	214				
CACNG1	786	broad.mit.edu	37	17	65051341	65051341	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65051341T>G	ENST00000226021.3	+	3	498	c.427T>G	c.(427-429)Ttc>Gtc	p.F143V		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	143					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGCGTCCATGTTCTATGCCTT	0.637																																						ENST00000226021.3																			0				breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8						c.(427-429)Ttc>Gtc		calcium channel, voltage-dependent, gamma subunit 1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						89.0	72.0	78.0					17																	65051341		2203	4300	6503	SO:0001583	missense	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65051341T>G	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.427T>G	17.37:g.65051341T>G	ENSP00000226021:p.Phe143Val						p.F143V	NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN			3	498	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		143					B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	c.427T>G	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727081	0.48833	.	.	ENSG00000108878	ENST00000226021	T	0.67171	-0.25	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.83852	2.665	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.82566	-0.0393	10	0.38643	T	0.18	.	14.9508	0.71071	0.0:0.0:0.0:1.0	.	143	Q06432	CCG1_HUMAN	V	143	ENSP00000226021:F143V	ENSP00000226021:F143V	F	+	1	0	CACNG1	62481803	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.988000	0.88194	1.944000	0.56390	0.379000	0.24179	TTC		0.637	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			16	262	0	0	0	1	0	16	262				
MAF	4094	broad.mit.edu	37	16	79633438	79633438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633438C>T	ENST00000393350.1	-	1	1173	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MAF_ENST00000326043.4_Missense_Mutation_p.S121N|MAF_ENST00000569649.1_Missense_Mutation_p.S121N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	121					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GAGCTGGTGGCTGTTGCTGAT	0.736			T	IGH@	MM																																	ENST00000393350.1				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10						c.(361-363)aGc>aAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							4.0	4.0	4.0					16																	79633438		1804	3735	5539	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633438C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.362G>A	16.37:g.79633438C>T	ENSP00000377019:p.Ser121Asn					MAF_ENST00000569649.1_Missense_Mutation_p.S121N|MAF_ENST00000326043.4_Missense_Mutation_p.S121N	p.S121N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	1173	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	121					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.362G>A	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384905	0.25031	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97731	-4.51;-4.5	3.01	2.0	0.26442	.	0.104535	0.64402	D	0.000003	D	0.93562	0.7945	L	0.32530	0.975	0.32007	N	0.602629	B;P	0.36535	0.421;0.557	B;B	0.32864	0.074;0.154	D	0.91611	0.5303	10	0.31617	T	0.26	.	11.5877	0.50929	0.0:0.8167:0.1833:0.0	.	121;121	O75444;O75444-1	MAF_HUMAN;.	N	121	ENSP00000327048:S121N;ENSP00000377019:S121N	ENSP00000327048:S121N	S	-	2	0	MAF	78190939	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.998000	0.49465	0.554000	0.29061	0.638000	0.83543	AGC		0.736	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			8	33	0	0	0	1	0	8	33				
MAB21L2	10586	broad.mit.edu	37	4	151504591	151504591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504591C>T	ENST00000317605.4	+	1	1515	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_5'Flank	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	137					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACGCTGGTGGCCCAGGCGGTG	0.602																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(409-411)gCc>gTc		mab-21-like 2 (C. elegans)							100.0	99.0	100.0					4																	151504591		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504591C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.410C>T	4.37:g.151504591C>T	ENSP00000324701:p.Ala137Val					LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	p.A137V	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1515	+	all_hematologic(180;0.151)		137					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.410C>T	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657904	0.88154	.	.	ENSG00000181541	ENST00000317605	T	0.08634	3.07	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01393	-1.1366	10	0.27082	T	0.32	-11.1366	19.4696	0.94958	0.0:1.0:0.0:0.0	.	137	Q9Y586	MB212_HUMAN	V	137	ENSP00000324701:A137V	ENSP00000324701:A137V	A	+	2	0	MAB21L2	151724041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.590000	0.87494	0.561000	0.74099	GCC		0.602	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		123	461	0	0	0	1	0	123	461				
PLXNA3	55558	broad.mit.edu	37	X	153692584	153692584	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153692584C>A	ENST00000369682.3	+	8	1931	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	586					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGAGGCGGTCCTGCTGCCCTC	0.687																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1756-1758)Ctg>Atg		plexin A3							27.0	25.0	26.0					X																	153692584		2195	4295	6490	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692584C>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1756C>A	X.37:g.153692584C>A	ENSP00000358696:p.Leu586Met						p.L586M	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			8	1931	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		586					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1756C>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302047	0.23736	.	.	ENSG00000130827	ENST00000369682	T	0.00995	5.46	5.51	5.51	0.81932	.	0.581307	0.18180	N	0.149177	T	0.01940	0.0061	L	0.53249	1.67	0.31420	N	0.674375	B	0.33212	0.402	B	0.40199	0.322	T	0.23547	-1.0185	10	0.34782	T	0.22	.	12.8614	0.57915	0.0:0.8401:0.1599:0.0	.	586	P51805	PLXA3_HUMAN	M	586	ENSP00000358696:L586M	ENSP00000358696:L586M	L	+	1	2	PLXNA3	153345778	0.000000	0.05858	0.998000	0.56505	0.157000	0.22087	0.001000	0.13038	2.295000	0.77249	0.597000	0.82753	CTG		0.687	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		28	96	1	0	1.42536e-11	1	1.52187e-11	28	96				
EHMT2	10919	broad.mit.edu	37	6	31851172	31851172	+	Silent	SNP	G	G	A	rs148424397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31851172G>A	ENST00000375537.4	-	23	2967	c.2961C>T	c.(2959-2961)tgC>tgT	p.C987C	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Silent_p.C1010C|EHMT2_ENST00000375530.4_Silent_p.C953C|EHMT2_ENST00000395728.3_Silent_p.C1044C|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	987	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGAGCTGGCCGCACAGGCAGT	0.632													G|||	6	0.00119808	0.0	0.0043	5008	,	,		20855	0.0		0.003	False		,,,				2504	0.0					ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3130-3132)tgC>tgT		euchromatic histone-lysine N-methyltransferase 2		G	,	0,3018		0,0,1509	51.0	39.0	43.0		2961,2859	-9.0	0.7	6	dbSNP_134	43	8,5410		0,8,2701	yes	coding-synonymous,coding-synonymous	EHMT2	NM_006709.3,NM_025256.5	,	0,8,4210	AA,AG,GG		0.1477,0.0,0.0948	,	987/1211,953/1177	31851172	8,8428	1509	2709	4218	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31851172G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2961C>T	6.37:g.31851172G>A						EHMT2_ENST00000375528.4_Silent_p.C1010C|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.C987C|EHMT2_ENST00000375530.4_Silent_p.C953C	p.C1044C			Q96KQ7	EHMT2_HUMAN			22	3131	-			987			SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3132C>T	CCDS4725.1																																																																																				0.632	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		11	121	0	0	0	1	0	11	121				
CASK	8573	broad.mit.edu	37	X	41437686	41437686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41437686G>A	ENST00000378163.1	-	15	1884	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000442742.2_Silent_p.G470G|CASK_ENST00000318588.9_Silent_p.G470G|CASK_ENST00000378158.1_Silent_p.G470G|CASK_ENST00000472704.1_5'UTR			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	470					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTGGAGAATCGCCGTTTAAAT	0.463																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(1408-1410)ggC>ggT		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							128.0	101.0	110.0					X																	41437686		2203	4300	6503	SO:0001819	synonymous_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41437686G>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1410C>T	X.37:g.41437686G>A						CASK_ENST00000378163.1_Silent_p.G470G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000378158.1_Silent_p.G470G|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000442742.2_Silent_p.G470G	p.G470G			O14936	CSKP_HUMAN			15	1455	-			470					A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37	c.1410C>T																																																																																					0.463	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		30	254	0	0	0	1	0	30	254				
BACE1	23621	broad.mit.edu	37	11	117166061	117166061	+	Missense_Mutation	SNP	G	G	A	rs17857093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117166061G>A	ENST00000313005.6	-	3	813	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F|BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000392937.6_Missense_Mutation_p.S18F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000514464.1_5'UTR	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	118					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTATGTGCTGGACCTGTGGAA	0.537																																						ENST00000313005.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(352-354)tCc>tTc		beta-site APP-cleaving enzyme 1							56.0	46.0	49.0					11																	117166061		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117166061G>A	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.353C>T	11.37:g.117166061G>A	ENSP00000318585:p.Ser118Phe					BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F|BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F|BACE1_ENST00000392937.6_Missense_Mutation_p.S18F	p.S118F	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	3	813	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	118					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.353C>T	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060153	0.93846	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.83	5.83	0.93111	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	M	0.91972	3.26	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;1.0;1.0;0.999	D	0.91198	0.4989	10	0.87932	D	0	.	19.1044	0.93287	0.0:0.0:1.0:0.0	rs17857093	18;18;118;118;118;118;118	F8W807;E9PE65;Q76KP0;P56817;P56817-3;P56817-4;P56817-2	.;.;.;BACE1_HUMAN;.;.;.	F	118;18;118;18;118;118;118	ENSP00000318585:S118F;ENSP00000431848:S118F;ENSP00000422461:S18F;ENSP00000402228:S118F;ENSP00000424536:S118F;ENSP00000403685:S118F	ENSP00000318585:S118F	S	-	2	0	BACE1	116671271	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.631000	0.98424	2.756000	0.94617	0.655000	0.94253	TCC		0.537	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			31	155	0	0	0	1	0	31	155				
ZNF337	26152	broad.mit.edu	37	20	25656919	25656919	+	Silent	SNP	G	G	A	rs367547255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656919G>A	ENST00000376436.1	-	4	1544	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F303F|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Silent_p.F335F			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGCACAACGAAGTATGACT	0.478																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1003-1005)ttC>ttT		zinc finger protein 337		G		0,4406		0,0,2203	85.0	78.0	81.0		1005	1.3	0.0	20		81	1,8599		0,1,4299	no	coding-synonymous	ZNF337	NM_015655.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		335/752	25656919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26152							g.chr20:25656919G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1005C>T	20.37:g.25656919G>A						RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F335F|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F303F|RP4-694B14.5_ENST00000439498.1_RNA	p.F335F							4	1544	-								B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.1005C>T	CCDS13174.1																																																																																				0.478	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	520	0	0	0	1	0	9	520				
POU2F1	5451	broad.mit.edu	37	1	167381303	167381303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167381303G>A	ENST00000541643.3	+	15	1756	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	POU2F1_ENST00000367862.5_Missense_Mutation_p.A544T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	532					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCTGCCTCAGCCTCCACCTC	0.602																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1630-1632)Gcc>Acc		POU class 2 homeobox 1							92.0	75.0	81.0					1																	167381303		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167381303G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1594G>A	1.37:g.167381303G>A	ENSP00000441285:p.Ala532Thr					POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T	p.A544T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			14	1865	+			532					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1630G>A		.	.	.	.	.	.	.	.	.	.	G	19.07	3.756711	0.69648	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86497	-2.13;-2.1;0.12;0.12;0.12;0.12;0.12	5.5	4.59	0.56863	.	1.244020	0.05323	N	0.527015	T	0.70422	0.3222	N	0.19112	0.55	0.34924	D	0.748716	B;B;B;B;B	0.21753	0.036;0.035;0.06;0.06;0.036	B;B;B;B;B	0.20184	0.008;0.013;0.019;0.028;0.008	T	0.46048	-0.9219	9	0.34782	T	0.22	.	14.5992	0.68427	0.0703:0.0:0.9297:0.0	.	492;532;544;530;532	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	T	555;492;530;532;532;544;440	ENSP00000356840:A555T;ENSP00000401217:A492T;ENSP00000356839:A530T;ENSP00000414660:A532T;ENSP00000441285:A532T;ENSP00000356836:A544T;ENSP00000415993:A440T	ENSP00000356836:A544T	A	+	1	0	POU2F1	165647927	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	3.738000	0.55067	1.453000	0.47775	0.650000	0.86243	GCC		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		49	266	0	0	0	1	0	49	266				
LRCH4	4034	broad.mit.edu	37	7	100174761	100174761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100174761G>A	ENST00000310300.6	-	12	1364	c.1312C>T	c.(1312-1314)Ctc>Ttc	p.L438F	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	438					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCCTGAGCCCTGGCTTC	0.632																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1312-1314)Ctc>Ttc		leucine-rich repeats and calponin homology (CH) domain containing 4							57.0	61.0	60.0					7																	100174761		2202	4300	6502	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100174761G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1312C>T	7.37:g.100174761G>A	ENSP00000309689:p.Leu438Phe					LRCH4_ENST00000497245.1_5'UTR	p.L438F	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			12	1364	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		438					A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1312C>T	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	g	8.842	0.942492	0.18281	.	.	ENSG00000077454	ENST00000310300	T	0.33865	1.39	4.39	-5.68	0.02436	.	2.169780	0.01807	N	0.033258	T	0.15435	0.0372	N	0.08118	0	0.09310	N	0.999997	P	0.34780	0.468	B	0.30646	0.118	T	0.10268	-1.0637	10	0.56958	D	0.05	0.0698	2.4963	0.04622	0.1237:0.1208:0.4011:0.3544	.	438	O75427	LRCH4_HUMAN	F	438	ENSP00000309689:L438F	ENSP00000309689:L438F	L	-	1	0	LRCH4	100012697	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.450000	0.06803	-1.113000	0.02981	-0.436000	0.05848	CTC		0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		69	300	0	0	0	1	0	69	300				
COL21A1	81578	broad.mit.edu	37	6	56035927	56035927	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035927C>A	ENST00000244728.5	-	4	1038		c.e4-1		COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAGACAGATTCTATAAAGCAA	0.303																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.e4-1		collagen, type XXI, alpha 1							78.0	70.0	73.0					6																	56035927		1821	4071	5892	SO:0001630	splice_region_variant	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035927C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.641-1G>T	6.37:g.56035927C>A						COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site		NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1038	-	Lung NSC(77;0.0483)							A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	SNP	ENST00000244728.5	37		CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898615	0.72639	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL21A1	56143886	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.235000	0.78143	2.084000	0.62774	0.585000	0.79938	.		0.303	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		Intron	10	247	1	0	6.40141e-05	1	6.5221e-05	10	247				
ITSN1	6453	broad.mit.edu	37	21	35202044	35202044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35202044C>T	ENST00000381318.3	+	27	3634	c.3346C>T	c.(3346-3348)Ctg>Ttg	p.L1116L	ITSN1_ENST00000399352.1_Silent_p.L1111L|ITSN1_ENST00000399353.1_Silent_p.L1074L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000399355.2_Silent_p.L1045L|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000381285.4_Silent_p.L1116L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000399349.1_Silent_p.L1040L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1116	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAGGAGAGCTGCAAGTCAG	0.463																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3346-3348)Ctg>Ttg		intersectin 1 (SH3 domain protein)							101.0	111.0	108.0					21																	35202044		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35202044C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3346C>T	21.37:g.35202044C>T						ITSN1_ENST00000399352.1_Silent_p.L1111L|ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000399353.1_Silent_p.L1074L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Silent_p.L1040L|ITSN1_ENST00000399355.2_Silent_p.L1045L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.L1116L	p.L1116L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			27	3634	+			1116			SH3 4.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3346C>T	CCDS33545.1																																																																																				0.463	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		100	407	0	0	0	1	0	100	407				
HEATR1	55127	broad.mit.edu	37	1	236715314	236715314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236715314C>T	ENST00000366582.3	-	44	6445	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T	RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2111					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCAACTCTGCTAAGAAAGGA	0.358																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(6331-6333)Gca>Aca		HEAT repeat containing 1							146.0	148.0	147.0					1																	236715314		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236715314C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6331G>A	1.37:g.236715314C>T	ENSP00000355541:p.Ala2111Thr					HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T|LGALS8_ENST00000526589.1_3'UTR	p.A2111T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		44	6445	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2111					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.6331G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151273	0.94645	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64618	-0.11;-0.11	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.163822	0.52532	D	0.000061	T	0.80597	0.4653	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.75020	0.898;0.985	T	0.83237	-0.0060	10	0.87932	D	0	.	18.6314	0.91361	0.0:1.0:0.0:0.0	.	2030;2111	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	T	2111;2030	ENSP00000355541:A2111T;ENSP00000355540:A2030T	ENSP00000355540:A2030T	A	-	1	0	HEATR1	234781937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.419000	0.80179	2.700000	0.92200	0.655000	0.94253	GCA		0.358	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		11	634	0	0	0	1	0	11	634				
TTC8	123016	broad.mit.edu	37	14	89300058	89300058	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89300058G>A	ENST00000380656.2	+	2	182	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	TTC8_ENST00000345383.5_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000354441.6_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	46			Missing (in RP51).		axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTGCCAGTGCATCAGGT	0.343																																						ENST00000380656.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(136-138)Gtg>Atg		tetratricopeptide repeat domain 8							113.0	112.0	112.0					14																	89300058		2203	4300	6503	SO:0001583	missense	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89300058G>A	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000380656.2:c.136G>A	14.37:g.89300058G>A	ENSP00000370031:p.Val46Met					TTC8_ENST00000345383.5_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000354441.6_Intron	p.V46M	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN			2	182	+			46		Missing (in RP51).			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000380656.2	37	c.136G>A	CCDS32137.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251971	0.22880	.	.	ENSG00000165533	ENST00000380656	T	0.77229	-1.08	5.79	1.82	0.25136	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.18873	N	0.999988	B	0.15473	0.013	B	0.11329	0.006	T	0.37957	-0.9683	9	0.26408	T	0.33	.	4.7346	0.12982	0.2461:0.0:0.6041:0.1498	.	46	Q8TAM2-4	.	M	46	ENSP00000370031:V46M	ENSP00000370031:V46M	V	+	1	0	TTC8	88369811	0.141000	0.22595	0.160000	0.22671	0.926000	0.56050	-0.107000	0.10873	0.346000	0.23899	0.561000	0.74099	GTG		0.343	TTC8-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410866.1	NM_144596		38	235	0	0	0	1	0	38	235				
FYCO1	79443	broad.mit.edu	37	3	46000959	46000959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46000959G>A	ENST00000296137.2	-	12	3718	c.3513C>T	c.(3511-3513)ctC>ctT	p.L1171L	FYCO1_ENST00000438446.1_5'Flank|FYCO1_ENST00000535325.1_Silent_p.L1171L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1171					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTGTCTCCGAGCCATCTCT	0.577																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3511-3513)ctC>ctT		FYVE and coiled-coil domain containing 1							91.0	75.0	81.0					3																	46000959		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46000959G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3513C>T	3.37:g.46000959G>A						FYCO1_ENST00000535325.1_Silent_p.L1171L	p.L1171L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	12	3718	-			1171					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.3513C>T	CCDS2734.1																																																																																				0.577	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		11	412	0	0	0	1	0	11	412				
RABGAP1L	9910	broad.mit.edu	37	1	174190149	174190149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174190149G>A	ENST00000251507.4	+	3	352	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.E60*(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGCCATGGAAGAGATTTT	0.373																																						ENST00000251507.4																			1	Substitution - Nonsense(1)	p.E60*(1)	lung(1)	NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(178-180)Gaa>Aaa		RAB GTPase activating protein 1-like							141.0	142.0	142.0					1																	174190149		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174190149G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.178G>A	1.37:g.174190149G>A	ENSP00000251507:p.Glu60Lys					RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K	p.E60K	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			3	352	+			60					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.178G>A	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418065	0.83449	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.54675	0.56;3.39;0.82	5.6	5.6	0.85130	.	0.050402	0.85682	D	0.000000	T	0.65048	0.2654	M	0.68593	2.085	0.80722	D	1	D;P;P	0.54601	0.967;0.945;0.948	B;P;B	0.55508	0.427;0.777;0.443	T	0.60444	-0.7262	10	0.26408	T	0.33	.	17.3758	0.87391	0.0:0.0:1.0:0.0	.	60;60;23	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	K	23;60;60;60	ENSP00000350027:E23K;ENSP00000251507:E60K;ENSP00000403136:E60K	ENSP00000251507:E60K	E	+	1	0	RABGAP1L	172456772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.641000	0.67881	2.648000	0.89879	0.591000	0.81541	GAA		0.373	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		110	532	0	0	0	1	0	110	532				
PLEKHA7	144100	broad.mit.edu	37	11	16811333	16811333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16811333C>T	ENST00000355661.3	-	22	3155	c.3145G>A	c.(3145-3147)Gcg>Acg	p.A1049T	PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1049					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGAAGGTCGCCTTGCTGCTT	0.612																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(3145-3147)Gcg>Acg		pleckstrin homology domain containing, family A member 7							141.0	106.0	118.0					11																	16811333		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16811333C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.3145G>A	11.37:g.16811333C>T	ENSP00000347883:p.Ala1049Thr					PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T	p.A1049T			Q6IQ23	PKHA7_HUMAN			22	3155	-			1049					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.3145G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036085	0.19590	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06528	3.29;3.3;3.3	5.69	-0.19	0.13256	.	1.321840	0.04514	N	0.383466	T	0.03305	0.0096	N	0.08118	0	0.28840	N	0.896653	B;B;B;B;B	0.23990	0.02;0.023;0.057;0.095;0.008	B;B;B;B;B	0.18871	0.018;0.01;0.01;0.023;0.022	T	0.40701	-0.9549	10	0.05525	T	0.97	-0.3836	9.7991	0.40753	0.0:0.5945:0.0:0.4055	.	624;1049;1049;1050;166	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.;.;PKHA7_HUMAN;.;.	T	1049;1049;1050	ENSP00000435389:A1049T;ENSP00000347883:A1049T;ENSP00000416895:A1050T	ENSP00000347883:A1049T	A	-	1	0	PLEKHA7	16767909	0.980000	0.34600	0.775000	0.31657	0.897000	0.52465	0.091000	0.15046	-0.200000	0.10300	0.655000	0.94253	GCG		0.612	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		28	134	0	0	0	1	0	28	134				
DLEC1	9940	broad.mit.edu	37	3	38158136	38158136	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38158136A>C	ENST00000308059.6	+	28	4070	c.4049A>C	c.(4048-4050)gAa>gCa	p.E1350A	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCAGCCATGAAACTGACTCA	0.627																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4048-4050)gAa>gCa		deleted in lung and esophageal cancer 1							57.0	57.0	57.0					3																	38158136		1949	4133	6082	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158136A>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4049A>C	3.37:g.38158136A>C	ENSP00000308597:p.Glu1350Ala					DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A	p.E1350A			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	4070	+			1350						Missense_Mutation	SNP	ENST00000308059.6	37	c.4049A>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	2.900	-0.227715	0.06022	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05447	3.46;3.44;3.68	4.65	0.865	0.19074	.	1.823620	0.02868	N	0.131149	T	0.07143	0.0181	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.44907	-0.9297	10	0.09084	T	0.74	0.0041	6.243	0.20801	0.4328:0.456:0.1112:0.0	.	1353;1350;1350;1350	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	A	1350;1350;1353	ENSP00000308597:E1350A;ENSP00000315914:E1350A;ENSP00000410427:E1353A	ENSP00000308597:E1350A	E	+	2	0	DLEC1	38133140	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.352000	0.20113	0.302000	0.22762	0.260000	0.18958	GAA		0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		94	385	0	0	0	1	0	94	385				
NMBR	4829	broad.mit.edu	37	6	142409766	142409766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142409766C>T	ENST00000258042.1	-	1	170	c.30G>A	c.(28-30)tcG>tcA	p.S10S	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	10					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGGTGGTCACCGAGAGGTTGG	0.617																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(28-30)tcG>tcA		neuromedin B receptor							28.0	30.0	29.0					6																	142409766		2203	4299	6502	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409766C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.30G>A	6.37:g.142409766C>T						RP11-137J7.2_ENST00000454401.1_RNA	p.S10S	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	170	-	Breast(32;0.155)		10					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.30G>A	CCDS5196.1																																																																																				0.617	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			40	139	0	0	0	1	0	40	139				
TLR5	7100	broad.mit.edu	37	1	223284113	223284113	+	Missense_Mutation	SNP	A	A	C	rs150499113		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223284113A>C	ENST00000540964.1	-	4	2722	c.2261T>G	c.(2260-2262)aTc>aGc	p.I754S	TLR5_ENST00000342210.6_Missense_Mutation_p.I754S			O60602	TLR5_HUMAN	toll-like receptor 5	754	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAGACAAACGATCTTTCTACT	0.473																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2260-2262)aTc>aGc		toll-like receptor 5							93.0	84.0	87.0					1																	223284113		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284113A>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2261T>G	1.37:g.223284113A>C	ENSP00000440643:p.Ile754Ser					TLR5_ENST00000342210.6_Missense_Mutation_p.I754S	p.I754S			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2722	-			754		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	TIR.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.2261T>G	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	A	9.988	1.229929	0.22542	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.02446	4.29;4.29;4.29	5.81	0.124	0.14714	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.406828	0.23030	N	0.052754	T	0.02649	0.0080	N	0.21282	0.65	0.09310	N	0.999992	B	0.14438	0.01	B	0.25987	0.065	T	0.41734	-0.9492	10	0.72032	D	0.01	.	10.65	0.45642	0.2819:0.0:0.7181:0.0	.	754	O60602	TLR5_HUMAN	S	754	ENSP00000440643:I754S;ENSP00000355846:I754S;ENSP00000340089:I754S	ENSP00000340089:I754S	I	-	2	0	TLR5	221350736	0.990000	0.36364	0.000000	0.03702	0.361000	0.29550	2.851000	0.48302	0.028000	0.15324	-0.280000	0.10049	ATC		0.473	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		66	239	0	0	0	1	0	66	239				
ADAMTS14	140766	broad.mit.edu	37	10	72496502	72496502	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72496502A>G	ENST00000373207.1	+	10	1552	c.1552A>G	c.(1552-1554)Acc>Gcc	p.T518A	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.T521A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	518	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTCTGCAAGACCAAGAAGGG	0.612																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1561-1563)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							88.0	78.0	82.0					10																	72496502		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72496502A>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1552A>G	10.37:g.72496502A>G	ENSP00000362303:p.Thr518Ala					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T518A	p.T521A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			10	1561	+			518			Disintegrin.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1561A>G	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440456	0.83993	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.71817	-0.6;-0.6	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.80746	2.51	0.50632	D	0.999885	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.976;0.996	D	0.86221	0.1631	10	0.87932	D	0	.	13.4353	0.61079	1.0:0.0:0.0:0.0	.	451;518;521	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	A	521;518	ENSP00000362304:T521A;ENSP00000362303:T518A	ENSP00000362303:T518A	T	+	1	0	ADAMTS14	72166508	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.087000	0.94110	1.993000	0.58246	0.383000	0.25322	ACC		0.612	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		42	266	0	0	0	1	0	42	266				
EPPK1	83481	broad.mit.edu	37	8	144940245	144940245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940245C>T	ENST00000525985.1	-	2	7248	c.7177G>A	c.(7177-7179)Gag>Aag	p.E2393K				P58107	EPIPL_HUMAN	epiplakin 1	2393						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.E2393K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGAGGTTCTCGTGCGTGTTG	0.627																																						ENST00000525985.1																			1	Substitution - Missense(1)	p.E2393K(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7177-7179)Gag>Aag		epiplakin 1							188.0	182.0	184.0					8																	144940245		2170	4257	6427	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940245C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7177G>A	8.37:g.144940245C>T	ENSP00000436337:p.Glu2393Lys						p.E2393K			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7248	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2393					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7177G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.340785	0.95783	.	.	ENSG00000227184	ENST00000525985	T	0.71579	-0.58	4.43	4.43	0.53597	.	.	.	.	.	T	0.80138	0.4568	L	0.55834	1.745	0.49299	D	0.999773	D	0.89917	1.0	D	0.85130	0.997	T	0.79697	-0.1695	9	0.44086	T	0.13	.	14.9464	0.71035	0.0:1.0:0.0:0.0	.	2393	E9PPU0	.	K	2393	ENSP00000436337:E2393K	ENSP00000436337:E2393K	E	-	1	0	EPPK1	145012233	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.555000	0.82223	2.455000	0.83008	0.591000	0.81541	GAG		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		41	1799	0	0	0	1	0	41	1799				
ZNF829	374899	broad.mit.edu	37	19	37382434	37382434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382434C>T	ENST00000391711.3	-	6	1623	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.R501H|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGTCAGAGCGACTACCAAA	0.373																																						ENST00000520965.1																			0				endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1501-1503)cGc>cAc		zinc finger protein 829							64.0	66.0	65.0					19																	37382434		2190	4291	6481	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37382434C>T	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1259G>A	19.37:g.37382434C>T	ENSP00000429266:p.Arg420His					ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.R420H	p.R501H	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1568	-	Esophageal squamous(110;0.183)		420					Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.1502G>A	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112918	0.20795	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.36157	1.27	3.28	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	L	0.43646	1.37	0.24617	N	0.993694	B	0.15930	0.015	B	0.01281	0.0	T	0.19614	-1.0300	9	0.21014	T	0.42	.	9.3436	0.38096	0.0:0.8812:0.0:0.1188	.	420	Q3KNS6	ZN829_HUMAN	H	420	ENSP00000429266:R420H	ENSP00000429266:R420H	R	-	2	0	ZNF829	42074274	0.000000	0.05858	0.991000	0.47740	0.993000	0.82548	-1.426000	0.02443	0.912000	0.36772	0.557000	0.71058	CGC		0.373	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		65	305	0	0	0	1	0	65	305				
MYLK	4638	broad.mit.edu	37	3	123440981	123440981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123440981C>T	ENST00000475616.1	-	10	1797	c.1798G>A	c.(1798-1800)Gtc>Atc	p.V600I	MYLK_ENST00000360304.3_Missense_Mutation_p.V600I|MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000359169.1_Missense_Mutation_p.V600I|MYLK_ENST00000360772.3_Missense_Mutation_p.V600I			Q15746	MYLK_HUMAN	myosin light chain kinase	600					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTACCATGGACGGTGACCCAG	0.582																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1798-1800)Gtc>Atc		myosin light chain kinase							14.0	12.0	12.0					3																	123440981		2193	4285	6478	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123440981C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1798G>A	3.37:g.123440981C>T	ENSP00000418335:p.Val600Ile					MYLK_ENST00000360304.3_Missense_Mutation_p.V600I|MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000475616.1_Missense_Mutation_p.V600I|MYLK_ENST00000359169.1_Missense_Mutation_p.V600I	p.V600I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	14	2176	-		Lung NSC(201;0.0496)	600					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1798G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	8.070	0.770011	0.15983	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.53	2.83	0.33086	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83972	0.5370	M	0.83118	2.625	0.44485	D	0.997425	B;D;D;B;B	0.76494	0.204;0.999;0.994;0.432;0.243	B;D;P;B;B	0.79784	0.049;0.993;0.685;0.1;0.081	T	0.80509	-0.1351	9	0.25751	T	0.34	.	10.3436	0.43893	0.0:0.7826:0.0:0.2174	.	600;531;600;531;600	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	600;600;600;531;600	ENSP00000354004:V600I;ENSP00000353452:V600I;ENSP00000352088:V600I;ENSP00000320622:V531I;ENSP00000418335:V600I	ENSP00000320622:V531I	V	-	1	0	MYLK	124923671	0.937000	0.31787	0.064000	0.19789	0.143000	0.21401	1.837000	0.39201	0.324000	0.23333	-0.995000	0.02519	GTC		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	28	0	0	0	1	0	4	28				
TUBA3E	112714	broad.mit.edu	37	2	130949639	130949639	+	Missense_Mutation	SNP	C	C	T	rs537573234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130949639C>T	ENST00000312988.7	-	5	1218	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	373					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCACACGGCCCGCTGCACCTT	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17072	0.0		0.0	False		,,,				2504	0.0					ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1117-1119)cGg>cAg		tubulin, alpha 3e							39.0	40.0	39.0					2																	130949639		2202	4290	6492	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949639C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1118G>A	2.37:g.130949639C>T	ENSP00000318197:p.Arg373Gln						p.R373Q	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			5	1218	-	Colorectal(110;0.1)		373						Missense_Mutation	SNP	ENST00000312988.7	37	c.1118G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.562135	0.45590	.	.	ENSG00000152086	ENST00000312988	D	0.84660	-1.88	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.118605	0.29838	U	0.011066	D	0.86012	0.5831	M	0.85299	2.745	0.45015	D	0.998032	B	0.20550	0.046	B	0.26310	0.068	D	0.86632	0.1886	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	373	Q6PEY2	TBA3E_HUMAN	Q	373	ENSP00000318197:R373Q	ENSP00000318197:R373Q	R	-	2	0	TUBA3E	130666109	0.956000	0.32656	1.000000	0.80357	0.910000	0.53928	2.209000	0.42806	1.668000	0.50843	0.455000	0.32223	CGG		0.607	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		71	455	0	0	0	1	0	71	455				
SLC25A39	51629	broad.mit.edu	37	17	42398537	42398537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398537C>T	ENST00000377095.5	-	8	699	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000225308.8_Missense_Mutation_p.V186M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	194					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGTACGACACATGCTGAGCC	0.627																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(556-558)Gtg>Atg		solute carrier family 25, member 39							44.0	40.0	41.0					17																	42398537		2202	4300	6502	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42398537C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.580G>A	17.37:g.42398537C>T	ENSP00000366299:p.Val194Met					SLC25A39_ENST00000377095.5_Missense_Mutation_p.V194M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M	p.V186M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	730	-		Prostate(33;0.0233)	194					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.556G>A	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	7.056	0.565521	0.13560	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.79033	-1.23;-1.23;-1.23	5.31	2.02	0.26589	Mitochondrial carrier domain (2);	0.241487	0.33980	N	0.004373	T	0.69637	0.3133	L	0.41632	1.29	0.40027	D	0.975488	B;B;B	0.15473	0.001;0.013;0.001	B;B;B	0.16722	0.016;0.01;0.009	T	0.65413	-0.6174	10	0.31617	T	0.26	-16.7721	16.3624	0.83273	0.0:0.3223:0.6777:0.0	.	171;194;186	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	186;194;171	ENSP00000225308:V186M;ENSP00000366299:V194M;ENSP00000444540:V171M	ENSP00000225308:V186M	V	-	1	0	SLC25A39	39754063	0.998000	0.40836	0.015000	0.15790	0.020000	0.10135	2.820000	0.48057	0.777000	0.33496	0.655000	0.94253	GTG		0.627	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		17	194	0	0	0	1	0	17	194				
ERN2	10595	broad.mit.edu	37	16	23706195	23706195	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23706195C>A	ENST00000457008.2	-	16	1836	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	ERN2_ENST00000256797.4_Missense_Mutation_p.G700C					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCCCAGGCCCTGGCTGTCA	0.632																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2098-2100)Ggc>Tgc		endoplasmic reticulum to nucleus signaling 2							39.0	39.0	39.0					16																	23706195		2196	4300	6496	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23706195C>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1798G>T	16.37:g.23706195C>A	ENSP00000413812:p.Gly600Cys					ERN2_ENST00000457008.2_Missense_Mutation_p.G600C	p.G700C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	17	2266	-			652			Protein kinase.			Missense_Mutation	SNP	ENST00000457008.2	37	c.2098G>T		.	.	.	.	.	.	.	.	.	.	C	17.43	3.388176	0.61956	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.56941	0.43;0.43	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77848	-0.2435	10	0.87932	D	0	.	16.9969	0.86370	0.0:1.0:0.0:0.0	.	600;652	E7ETG2;A5YM65	.;.	C	700;600	ENSP00000256797:G700C;ENSP00000413812:G600C	ENSP00000256797:G700C	G	-	1	0	ERN2	23613696	1.000000	0.71417	0.976000	0.42696	0.054000	0.15201	5.689000	0.68234	2.676000	0.91093	0.655000	0.94253	GGC		0.632	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			36	170	1	0	5.71845e-15	1	6.23116e-15	36	170				
QSER1	79832	broad.mit.edu	37	11	32979504	32979504	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32979504C>A	ENST00000399302.2	+	8	4789	c.4454C>A	c.(4453-4455)cCc>cAc	p.P1485H	QSER1_ENST00000527788.1_Missense_Mutation_p.P1246H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1485										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCCGTGAAACCCAAAGTTAAA	0.403																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(4453-4455)cCc>cAc		glutamine and serine rich 1							69.0	64.0	65.0					11																	32979504		1835	4090	5925	SO:0001583	missense	79832							g.chr11:32979504C>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4454C>A	11.37:g.32979504C>A	ENSP00000382241:p.Pro1485His					QSER1_ENST00000527788.1_Missense_Mutation_p.P1246H	p.P1485H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			8	4789	+	Breast(20;0.158)		1485					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4454C>A	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497872|4.497872	0.85069|0.85069	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|T	0.33865|0.39787	1.72;1.39|1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.090600|0.090600	0.47455|0.47455	D|D	0.000238|0.000238	T|T	0.60038|0.60038	0.2238|0.2238	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.74348|.	0.983;0.971;0.936|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|8	0.87932|0.56958	D|D	0|0.05	.|.	20.2861|20.2861	0.98535|0.98535	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1246;1246;1485|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	H|T	1485;1246;1246|506	ENSP00000382241:P1485H;ENSP00000432766:P1246H|ENSP00000432136:P506T	ENSP00000078652:P1246H|ENSP00000432136:P506T	P|P	+|+	2|1	0|0	QSER1|QSER1	32936080|32936080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	6.838000|6.838000	0.75359|0.75359	2.786000|2.786000	0.95864|0.95864	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.403	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		8	301	1	0	0.000157383	1	0.000159814	8	301				
LPCAT4	254531	broad.mit.edu	37	15	34654469	34654469	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34654469A>C	ENST00000314891.6	-	10	1115	c.938T>G	c.(937-939)aTt>aGt	p.I313S	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	313					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GCCCACCACAATCACAGGTAA	0.537																																						ENST00000314891.6																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(937-939)aTt>aGt		lysophosphatidylcholine acyltransferase 4							109.0	105.0	106.0					15																	34654469		2201	4298	6499	SO:0001583	missense	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34654469A>C	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.938T>G	15.37:g.34654469A>C	ENSP00000317300:p.Ile313Ser						p.I313S	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN			10	1115	-			313					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	c.938T>G	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459603	0.43736	.	.	ENSG00000176454	ENST00000314891	T	0.80480	-1.38	5.35	4.22	0.49857	.	0.502673	0.20331	N	0.094425	T	0.58694	0.2140	N	0.13168	0.305	0.36546	D	0.871549	B	0.02656	0.0	B	0.01281	0.0	T	0.55321	-0.8159	10	0.13853	T	0.58	-2.434	3.6788	0.08302	0.6844:0.0:0.3156:0.0	.	313	Q643R3	LPCT4_HUMAN	S	313	ENSP00000317300:I313S	ENSP00000317300:I313S	I	-	2	0	LPCAT4	32441761	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	1.475000	0.35409	2.021000	0.59480	0.482000	0.46254	ATT		0.537	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		14	507	0	0	0	1	0	14	507				
ADAMTS17	170691	broad.mit.edu	37	15	100591811	100591811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100591811G>A	ENST00000268070.4	-	17	2526	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	807	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTTCCCAGCCGCTGTGGGTCC	0.527																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2419-2421)agC>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							151.0	153.0	153.0					15																	100591811		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100591811G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2421C>T	15.37:g.100591811G>A							p.S807S	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	17	2526	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		807			TSP type-1 2.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2421C>T	CCDS10383.1																																																																																				0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		179	822	0	0	0	1	0	179	822				
WHSC1	7468	broad.mit.edu	37	4	1918684	1918684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1918684G>A	ENST00000382895.3	+	6	1278	c.847G>A	c.(847-849)Gct>Act	p.A283T	WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000503128.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	283	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAGCCTCGTAGCTTTTGAAGG	0.433			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(847-849)Gct>Act		Wolf-Hirschhorn syndrome candidate 1							77.0	80.0	79.0					4																	1918684		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918684G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.847G>A	4.37:g.1918684G>A	ENSP00000372351:p.Ala283Thr					WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382895.3_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T	p.A283T			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1054	+		all_epithelial(65;1.34e-05)	283			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.847G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586572	0.28268	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.25	3.39	0.38822	PWWP (3);	0.335476	0.25768	N	0.028439	T	0.39517	0.1081	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.10450	0.005;0.003;0.005;0.004	T	0.17930	-1.0353	10	0.25751	T	0.34	.	3.9283	0.09273	0.0897:0.2814:0.4923:0.1366	.	283;283;283;283	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	T	283	ENSP00000423972:A283T;ENSP00000421681:A283T;ENSP00000372347:A283T;ENSP00000372348:A283T;ENSP00000399251:A283T;ENSP00000372351:A283T;ENSP00000425761:A283T;ENSP00000422878:A283T;ENSP00000381311:A283T	ENSP00000308780:A283T	A	+	1	0	WHSC1	1888482	0.952000	0.32445	0.996000	0.52242	0.998000	0.95712	1.515000	0.35845	1.445000	0.47624	0.655000	0.94253	GCT		0.433	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		64	229	0	0	0	1	0	64	229				
RALGAPA1	253959	broad.mit.edu	37	14	36143867	36143867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36143867G>T	ENST00000389698.3	-	22	3545	c.3155C>A	c.(3154-3156)aCt>aAt	p.T1052N	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T1099N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1052					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTCAGAGTACCTCCTGC	0.373																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3295-3297)aCt>aAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							23.0	23.0	23.0					14																	36143867		2203	4293	6496	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36143867G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3155C>A	14.37:g.36143867G>T	ENSP00000374348:p.Thr1052Asn					RALGAPA1_ENST00000389698.3_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N	p.T1099N			Q6GYQ0	RGPA1_HUMAN			23	3686	-			1052					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3296C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046533	0.36085	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.32	5.32	0.75619	.	0.061056	0.64402	D	0.000002	T	0.69124	0.3076	L	0.46157	1.445	0.58432	D	0.999992	P;B;P;B	0.47545	0.897;0.047;0.763;0.104	P;B;B;B	0.47206	0.541;0.04;0.173;0.024	T	0.64757	-0.6332	10	0.09590	T	0.72	-15.642	19.0012	0.92834	0.0:0.0:1.0:0.0	.	1099;1065;1052;1052	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	N	1052;1052;1052;1099;1065;1099	ENSP00000374348:T1052N;ENSP00000302647:T1052N;ENSP00000258840:T1099N;ENSP00000371803:T1065N;ENSP00000451877:T1099N	ENSP00000258840:T1099N	T	-	2	0	RALGAPA1	35213618	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.522000	0.73783	2.466000	0.83321	0.591000	0.81541	ACT		0.373	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		39	141	1	0	1.23103e-26	1	1.41986e-26	39	141				
SLC1A7	6512	broad.mit.edu	37	1	53608004	53608004	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53608004G>A	ENST00000371494.4	-	1	245	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	SLC1A7_ENST00000371491.4_Missense_Mutation_p.R40W	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	40					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GAGAGGCGCCGGGTCCTCAAG	0.647																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(118-120)Cgg>Tgg		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						89.0	65.0	73.0					1																	53608004		2192	4286	6478	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53608004G>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.118C>T	1.37:g.53608004G>A	ENSP00000360549:p.Arg40Trp					SLC1A7_ENST00000371491.4_Missense_Mutation_p.R40W	p.R40W	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	1	245	-			40					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.118C>T	CCDS574.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296002	0.60086	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.58652	0.32;0.32	5.53	4.56	0.56223	.	0.349234	0.27730	N	0.018100	T	0.55386	0.1917	N	0.24115	0.695	0.37736	D	0.925439	D;B	0.57899	0.981;0.205	P;P	0.56788	0.806;0.67	T	0.58301	-0.7660	10	0.41790	T	0.15	-7.2551	11.5809	0.50891	0.0:0.0:0.6608:0.3392	.	40;40	Q9BW45;O00341	.;EAA5_HUMAN	W	40	ENSP00000360549:R40W;ENSP00000360546:R40W	ENSP00000360546:R40W	R	-	1	2	SLC1A7	53380592	0.893000	0.30496	1.000000	0.80357	0.629000	0.37895	2.726000	0.47302	2.602000	0.87976	0.555000	0.69702	CGG		0.647	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		5	23	0	0	0	1	0	5	23				
GAS8	2622	broad.mit.edu	37	16	90097793	90097793	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90097793C>A	ENST00000268699.4	+	3	299	c.177C>A	c.(175-177)atC>atA	p.I59I	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.I34I|C16orf3_ENST00000408886.2_5'Flank	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	59	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGGACAAGATCCACACCTTCT	0.622																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(175-177)atC>atA		growth arrest-specific 8							106.0	101.0	103.0					16																	90097793		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90097793C>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.177C>A	16.37:g.90097793C>A						GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.I34I	p.I59I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	3	299	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	59			Regulates microtubule-binding (By similarity).		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.177C>A	CCDS10992.1																																																																																				0.622	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			13	204	1	0	1.5842e-08	1	1.65642e-08	13	204				
CGN	57530	broad.mit.edu	37	1	151497153	151497153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151497153C>T	ENST00000271636.7	+	8	1538	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	463	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCCAGGACCTGTTAGAGAC	0.478																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1405-1407)Ctg>Ttg		cingulin							16.0	18.0	17.0					1																	151497153		2199	4296	6495	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151497153C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1405C>T	1.37:g.151497153C>T							p.L469L	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		8	1538	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		463			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.1405C>T	CCDS999.1																																																																																				0.478	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		25	100	0	0	0	1	0	25	100				
ARHGAP20	57569	broad.mit.edu	37	11	110454328	110454328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110454328T>C	ENST00000260283.4	-	14	1833	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	517	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)		GGCCAAAGAATACTTGGAGCG	0.418																																						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.(1549-1551)Att>Gtt		Rho GTPase activating protein 20							130.0	115.0	120.0					11																	110454328		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110454328T>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.1549A>G	11.37:g.110454328T>C	ENSP00000260283:p.Ile517Val					ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V	p.I517V	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)	14	1833	-		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)	517			Rho-GAP.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.1549A>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435130	0.43224	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.47528	0.84;0.84;1.85;0.84;0.84;0.84;0.84	5.78	0.592	0.17471	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.330773	0.30043	N	0.010550	T	0.42154	0.1190	L	0.46819	1.47	0.27901	N	0.938968	B;B;B	0.33044	0.395;0.281;0.238	B;B;B	0.43360	0.293;0.417;0.341	T	0.40924	-0.9537	10	0.59425	D	0.04	.	3.8261	0.08855	0.1027:0.1344:0.444:0.3189	.	491;517;494	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	517;491;60;494;481;491;481	ENSP00000260283:I517V;ENSP00000349660:I491V;ENSP00000437905:I60V;ENSP00000432076:I494V;ENSP00000436319:I481V;ENSP00000436522:I491V;ENSP00000431399:I481V	ENSP00000260283:I517V	I	-	1	0	ARHGAP20	109959538	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	0.963000	0.29293	-0.073000	0.12842	-0.326000	0.08463	ATT		0.418	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		38	149	0	0	0	1	0	38	149				
IRX1	79192	broad.mit.edu	37	5	3600167	3600167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600167G>A	ENST00000302006.3	+	2	1157	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	369					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTGCCACATCGGCAAGTTCTC	0.711																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1105-1107)Ggc>Agc		iroquois homeobox 1																																				SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600167G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1105G>A	5.37:g.3600167G>A	ENSP00000305244:p.Gly369Ser					CTD-2012M11.3_ENST00000559410.1_RNA	p.G369S	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	1157	+			369					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1105G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007181	0.75046	.	.	ENSG00000170549	ENST00000302006	T	0.69561	-0.41	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	L	0.60455	1.87	0.58432	D	0.999999	D	0.69078	0.997	P	0.51016	0.656	T	0.70842	-0.4762	10	0.30854	T	0.27	.	17.2481	0.87034	0.0:0.0:1.0:0.0	.	369	P78414	IRX1_HUMAN	S	369	ENSP00000305244:G369S	ENSP00000305244:G369S	G	+	1	0	IRX1	3653167	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.329000	0.79170	2.018000	0.59344	0.563000	0.77884	GGC		0.711	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		16	94	0	0	0	1	0	16	94				
ARHGEF7	8874	broad.mit.edu	37	13	111953130	111953130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111953130C>T	ENST00000218789.5	+	19	2373	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTTGCTTCCAGAAGAAGA	0.353																																						ENST00000218789.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(1876-1878)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 7							79.0	96.0	91.0					13																	111953130		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111953130C>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.1876C>T	13.37:g.111953130C>T	ENSP00000218789:p.Pro626Ser					ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S	p.P626S			Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		19	2373	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		398					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000218789.5	37	c.1876C>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.351760	0.82132	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.57595	0.58;0.39;0.59;0.59;0.62	5.25	5.25	0.73442	.	.	.	.	.	T	0.68952	0.3057	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	T	0.66152	-0.5995	9	0.30854	T	0.27	.	18.8414	0.92186	0.0:1.0:0.0:0.0	.	642	B7Z6G2	.	S	652;626;567;567;642	ENSP00000359657:P652S;ENSP00000218789:P626S;ENSP00000364888:P567S;ENSP00000397068:P567S;ENSP00000364889:P642S	ENSP00000218789:P626S	P	+	1	0	ARHGEF7	110751131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.830000	0.75319	2.420000	0.82092	0.561000	0.74099	CCA		0.353	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3	NM_001113511		48	367	0	0	0	1	0	48	367				
GEN1	348654	broad.mit.edu	37	2	17954522	17954522	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17954522G>A	ENST00000381254.2	+	10	1241	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.V343M	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	343					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGATAAATTGGTGAAGGTTAT	0.274								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1027-1029)Gtg>Atg	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							34.0	36.0	35.0					2																	17954522		2198	4290	6488	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17954522G>A	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1027G>A	2.37:g.17954522G>A	ENSP00000370653:p.Val343Met					SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.V343M	p.V343M	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			10	1241	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		343					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1027G>A	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476207	0.26511	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.42900	0.96;0.96;0.96	5.66	1.63	0.23807	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	1.197160	0.06327	N	0.705530	T	0.38348	0.1037	L	0.57536	1.79	0.09310	N	1	P	0.47106	0.89	B	0.42522	0.39	T	0.26121	-1.0112	10	0.44086	T	0.13	-0.1524	2.6399	0.04968	0.238:0.1369:0.5007:0.1244	.	343	Q17RS7	GEN_HUMAN	M	343;343;114	ENSP00000318977:V343M;ENSP00000370653:V343M;ENSP00000431542:V114M	ENSP00000318977:V343M	V	+	1	0	GEN1	17818003	0.134000	0.22483	0.131000	0.22000	0.868000	0.49771	0.403000	0.20982	0.264000	0.21851	0.650000	0.86243	GTG		0.274	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		12	83	0	0	0	1	0	12	83				
AASS	10157	broad.mit.edu	37	7	121738597	121738597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121738597C>A	ENST00000393376.1	-	14	1657	c.1562G>T	c.(1561-1563)gGc>gTc	p.G521V	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G521V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	521	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATATTTCTTGCCTAACTGTTC	0.323																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(1561-1563)gGc>gTc		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						102.0	98.0	100.0					7																	121738597		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738597C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1562G>T	7.37:g.121738597C>A	ENSP00000377040:p.Gly521Val					AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G521V	p.G521V			Q9UDR5	AASS_HUMAN			14	1657	-			521			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1562G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804224	0.31869	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.38401	1.14;1.14	5.97	4.13	0.48395	NAD(P)-binding domain (1);	0.791425	0.12271	N	0.483813	T	0.12561	0.0305	N	0.01091	-1.02	0.09310	N	0.999996	B	0.02656	0.0	B	0.12156	0.007	T	0.07558	-1.0766	10	0.59425	D	0.04	0.2893	4.3102	0.10967	0.1252:0.5612:0.2255:0.0881	.	521	Q9UDR5	AASS_HUMAN	V	521	ENSP00000377040:G521V;ENSP00000403768:G521V	ENSP00000351834:G521V	G	-	2	0	AASS	121525833	0.080000	0.21391	0.129000	0.21949	0.926000	0.56050	2.831000	0.48144	1.533000	0.49186	0.585000	0.79938	GGC		0.323	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		36	135	1	0	6.50621e-10	1	6.87419e-10	36	135				
SERTAD4	56256	broad.mit.edu	37	1	210415340	210415340	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415340G>A	ENST00000367012.3	+	4	959	c.729G>A	c.(727-729)caG>caA	p.Q243Q	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	243						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTTCCCGCCAGGTGGATTTTG	0.498																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(727-729)caG>caA		SERTA domain containing 4							62.0	57.0	59.0					1																	210415340		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415340G>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.729G>A	1.37:g.210415340G>A						SERTAD4_ENST00000490620.1_3'UTR	p.Q243Q	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	959	+			243					B2RD32	Silent	SNP	ENST00000367012.3	37	c.729G>A	CCDS1494.1																																																																																				0.498	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		58	251	0	0	0	1	0	58	251				
RAB11FIP4	84440	broad.mit.edu	37	17	29855524	29855524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29855524G>A	ENST00000325874.8	+	12	1686	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	486	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGACAGAACCGCCTTGAGTTC	0.622																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1456-1458)cGc>cAc		RAB11 family interacting protein 4 (class II)							90.0	85.0	86.0					17																	29855524		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29855524G>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1457G>A	17.37:g.29855524G>A	ENSP00000312837:p.Arg486His					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	p.R486H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			12	1686	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	486			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1457G>A	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082171	0.55861	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.81046	-0.1110	8	.	.	.	-26.563	17.1298	0.86724	0.0:0.0:1.0:0.0	.	384;486	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	H	486	.	.	R	+	2	0	RAB11FIP4	26879644	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.434000	0.97515	2.711000	0.92665	0.655000	0.94253	CGC		0.622	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		78	373	0	0	0	1	0	78	373				
TRIM5	85363	broad.mit.edu	37	11	5699533	5699533	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5699533C>T	ENST00000380034.3	-	4	901	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000305836.5_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	215					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCAGAGTTCGTAAGGCTTT	0.527																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(643-645)acG>acA		tripartite motif containing 5							129.0	111.0	117.0					11																	5699533		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699533C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.645G>A	11.37:g.5699533C>T						TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR	p.T215T			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	947	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	215					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.645G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	-0.944	0.10392	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	0.4029	0.00428	0.1969:0.202:0.1595:0.4417	.	.	.	.	Q	92	.	.	R	-	2	0	TRIM5	5656109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.187000	0.00566	-0.007000	0.14345	-1.326000	0.01283	CGA		0.527	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		32	315	0	0	0	1	0	32	315				
PBRM1	55193	broad.mit.edu	37	3	52620542	52620542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52620542G>A	ENST00000296302.7	-	20	3287	c.3286C>T	c.(3286-3288)Cgc>Tgc	p.R1096C	PBRM1_ENST00000356770.4_Missense_Mutation_p.R1064C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C			Q86U86	PB1_HUMAN	polybromo 1	1096					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGGCCACGCGAACCACAGGC	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3190-3192)Cgc>Tgc		polybromo 1							113.0	111.0	112.0					3																	52620542		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52620542G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3286C>T	3.37:g.52620542G>A	ENSP00000296302:p.Arg1096Cys					PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1096C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C	p.R1064C			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	3192	-			1096			BAH 1.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3190C>T		.	.	.	.	.	.	.	.	.	.	G	19.01	3.743073	0.69418	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.52754	0.8;0.68;0.83;0.83;0.81;0.71;1.27;0.84;0.8;0.65	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.52905	1.665	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.995;0.992;0.995;0.989;0.997;0.995;0.995;0.993	T	0.66803	-0.5831	10	0.87932	D	0	-27.3744	15.1515	0.72703	0.0:0.0:0.8583:0.1417	.	1071;1095;1071;1096;1111;1111;1096;1064;1096	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	1064;1071;1096;1096;1096;1071;1111;1111;1095;1054	ENSP00000349213:R1064C;ENSP00000378307:R1071C;ENSP00000296302:R1096C;ENSP00000338302:R1096C;ENSP00000386593:R1096C;ENSP00000386529:R1071C;ENSP00000386643:R1111C;ENSP00000386601:R1111C;ENSP00000387775:R1095C;ENSP00000397662:R1054C	ENSP00000296302:R1096C	R	-	1	0	PBRM1	52595582	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.608000	0.74168	2.493000	0.84123	0.555000	0.69702	CGC		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		126	468	0	0	0	1	0	126	468				
P2RY8	286530	broad.mit.edu	37	X	1585098	1585098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1585098G>A	ENST00000381297.4	-	2	564	c.354C>T	c.(352-354)agC>agT	p.S118S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCGCTCCACGCTGATACAGG	0.632			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(352-354)agC>agT		purinergic receptor P2Y, G-protein coupled, 8							108.0	103.0	105.0					X																	1585098		2203	4296	6499	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1585098G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.354C>T	X.37:g.1585098G>A							p.S118S	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	564	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	118						Silent	SNP	ENST00000381297.4	37	c.354C>T	CCDS14115.1																																																																																				0.632	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		26	79	0	0	0	1	0	26	79				
ZNF862	643641	broad.mit.edu	37	7	149559356	149559356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559356C>T	ENST00000223210.4	+	7	3352	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCCATCTCCACCTCTTGCTGT	0.587																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(3106-3108)aCc>aTc		zinc finger protein 862							48.0	56.0	53.0					7																	149559356		2125	4231	6356	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149559356C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3107C>T	7.37:g.149559356C>T	ENSP00000223210:p.Thr1036Ile						p.T1036I	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	3352	+			1036					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.3107C>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751826	0.49362	.	.	ENSG00000106479	ENST00000223210	T	0.24151	1.87	5.39	3.51	0.40186	HAT dimerisation (1);Ribonuclease H-like (1);	0.119463	0.37669	N	0.001994	T	0.42017	0.1184	M	0.70275	2.135	0.27088	N	0.962921	D	0.63046	0.992	P	0.60012	0.867	T	0.27331	-1.0077	10	0.56958	D	0.05	-24.2793	8.668	0.34132	0.1725:0.6614:0.1662:0.0	.	1036	O60290	ZN862_HUMAN	I	1036	ENSP00000223210:T1036I	ENSP00000223210:T1036I	T	+	2	0	ZNF862	149190289	0.982000	0.34865	0.996000	0.52242	0.954000	0.61252	2.076000	0.41548	0.597000	0.29811	0.655000	0.94253	ACC		0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		32	130	0	0	0	1	0	32	130				
SHANK2	22941	broad.mit.edu	37	11	70332710	70332710	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70332710A>C	ENST00000423696.2	-	15	2587	c.2551T>G	c.(2551-2553)Tct>Gct	p.S851A	SHANK2_ENST00000409161.1_Missense_Mutation_p.S634A|SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A|SHANK2_ENST00000338508.4_Missense_Mutation_p.S1231A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	851					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTGTTGAGACTCCTTCATG	0.622																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3691-3693)Tct>Gct		SH3 and multiple ankyrin repeat domains 2							59.0	67.0	64.0					11																	70332710		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332710A>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2551T>G	11.37:g.70332710A>C	ENSP00000394536:p.Ser851Ala					SHANK2_ENST00000409161.1_Missense_Mutation_p.S634A|SHANK2_ENST00000423696.2_Missense_Mutation_p.S851A|SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A	p.S1231A			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3690	-			851					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3691T>G		.	.	.	.	.	.	.	.	.	.	A	10.43	1.347053	0.24426	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.88	0.622	0.17648	.	0.321940	0.33253	N	0.005116	T	0.33469	0.0864	M	0.65975	2.015	0.80722	D	1	B;B;B	0.32188	0.245;0.359;0.009	B;B;B	0.36845	0.08;0.234;0.015	T	0.08249	-1.0731	10	0.29301	T	0.29	.	0.4194	0.00453	0.2304:0.3182:0.1853:0.2661	.	851;1230;635	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	A	635;634;509;1231;851;869;854	ENSP00000399423:S635A;ENSP00000386491:S634A;ENSP00000402944:S509A;ENSP00000345193:S1231A;ENSP00000394536:S851A;ENSP00000294018:S854A	ENSP00000294018:S854A	S	-	1	0	SHANK2	70010358	1.000000	0.71417	0.976000	0.42696	0.691000	0.40173	2.898000	0.48672	0.172000	0.19760	0.459000	0.35465	TCT		0.622	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		71	458	0	0	0	1	0	71	458				
SUDS3	64426	broad.mit.edu	37	12	118829014	118829014	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118829014G>T	ENST00000543473.1	+	6	756	c.444G>T	c.(442-444)gaG>gaT	p.E148D	SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	148	Mediates interaction with USP17L2.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGAAAGAGAACCTGATTG	0.398																																						ENST00000543473.1																			0				breast(1)|lung(1)	2						c.(442-444)gaG>gaT		suppressor of defective silencing 3 homolog (S. cerevisiae)							95.0	96.0	95.0					12																	118829014		1837	4083	5920	SO:0001583	missense	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118829014G>T	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.444G>T	12.37:g.118829014G>T	ENSP00000443988:p.Glu148Asp					SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	p.E148D	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN			6	756	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		148					Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	37	c.444G>T	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	6.662	0.490703	0.12702	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.28608	0.87	0.58432	D	0.999995	D	0.57257	0.979	D	0.74023	0.982	T	0.48570	-0.9024	9	0.11794	T	0.64	-18.0549	6.5366	0.22357	0.2101:0.0:0.7899:0.0	.	148	Q9H7L9	SDS3_HUMAN	D	148;149	.	ENSP00000380695:E149D	E	+	3	2	SUDS3	117313397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.830000	0.48136	2.677000	0.91161	0.655000	0.94253	GAG		0.398	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		86	400	1	0	2.02726e-29	1	2.36871e-29	86	400				
TNFRSF19	55504	broad.mit.edu	37	13	24190110	24190110	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24190110C>T	ENST00000382258.4	+	4	489	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_ENST00000382263.3_Silent_p.C95C|TNFRSF19_ENST00000248484.4_Silent_p.C95C|TNFRSF19_ENST00000403372.2_5'UTR	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	95					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTCTGGACTGCGCAGTGGTGA	0.572																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(283-285)tgC>tgT		tumor necrosis factor receptor superfamily, member 19							107.0	99.0	102.0					13																	24190110		2203	4300	6503	SO:0001819	synonymous_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24190110C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.285C>T	13.37:g.24190110C>T						TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382258.4_Silent_p.C95C|TNFRSF19_ENST00000248484.4_Silent_p.C95C	p.C95C	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	4	469	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	95					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	37	c.285C>T	CCDS9302.1																																																																																				0.572	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		46	302	0	0	0	1	0	46	302				
UBN2	254048	broad.mit.edu	37	7	138936723	138936723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936723C>T	ENST00000473989.3	+	3	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	UBN2_ENST00000288561.8_Missense_Mutation_p.R112W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	195						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCGTAAACACCGGAAGGATCG	0.373																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(334-336)Cgg>Tgg		ubinuclein 2							107.0	107.0	107.0					7																	138936723		1828	4088	5916	SO:0001583	missense	254048							g.chr7:138936723C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.583C>T	7.37:g.138936723C>T	ENSP00000418648:p.Arg195Trp					UBN2_ENST00000473989.2_Missense_Mutation_p.R195W	p.R112W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			3	583	+			195			Pro-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.334C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096847	0.76870	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.39229	1.11;1.09	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.68317	2.08	0.49687	D	0.999814	D	0.89917	1.0	D	0.77557	0.99	T	0.65861	-0.6065	10	0.87932	D	0	-9.6286	13.501	0.61454	0.2833:0.7167:0.0:0.0	.	195	Q6ZU65	UBN2_HUMAN	W	18;195;112	ENSP00000418648:R195W;ENSP00000288561:R112W	ENSP00000288561:R112W	R	+	1	2	UBN2	138587263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.599000	0.46231	1.344000	0.45657	0.655000	0.94253	CGG		0.373	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		64	365	0	0	0	1	0	64	365				
PNMAL2	57469	broad.mit.edu	37	19	46998046	46998046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998046G>A	ENST00000377655.2	-	1	676	c.677C>T	c.(676-678)aCg>aTg	p.T226M	AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.T226M			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	226										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGCCTGCAGCGTGGCGTACAG	0.667																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(676-678)aCg>aTg		paraneoplastic Ma antigen family-like 2							40.0	35.0	37.0					19																	46998046		2203	4300	6503	SO:0001583	missense	57469							g.chr19:46998046G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.677C>T	19.37:g.46998046G>A	ENSP00000366883:p.Thr226Met					PNMAL2_ENST00000377655.2_Missense_Mutation_p.T226M|AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M|PNMAL2_ENST00000594749.1_Intron	p.T226M	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1709	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	226					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.677C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.567606|2.567606	0.45694|0.45694	.|.	.|.	ENSG00000204851|ENSG00000204850	ENST00000377655|ENST00000377652	T|.	0.27104|.	1.69|.	2.06|2.06	0.988|0.988	0.19796|0.19796	.|.	.|.	.|.	.|.	.|.	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P|D	0.40681|0.65815	0.727|0.995	B|P	0.24269|0.47786	0.052|0.557	T|T	0.11179|0.11179	-1.0598|-1.0598	9|8	0.56958|0.87932	D|D	0.05|0	-8.9284|-8.9284	4.7389|4.7389	0.13003|0.13003	0.1903:0.0:0.8097:0.0|0.1903:0.0:0.8097:0.0	.|.	226|53	Q9ULN7|Q6ZVU4	PNML2_HUMAN|.	M|M	226|53	ENSP00000366883:T226M|.	ENSP00000366883:T226M|ENSP00000366880:V53M	T|V	-|+	2|1	0|0	PNMAL2|AC011484.1	51689886|51689886	0.016000|0.016000	0.18221|0.18221	0.002000|0.002000	0.10522|0.10522	0.221000|0.221000	0.24807|0.24807	0.638000|0.638000	0.24674|0.24674	0.409000|0.409000	0.25649|0.25649	0.491000|0.491000	0.48974|0.48974	ACG|GTG		0.667	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		7	141	0	0	0	1	0	7	141				
FAM208B	54906	broad.mit.edu	37	10	5773107	5773107	+	Missense_Mutation	SNP	C	C	T	rs377180792		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5773107C>T	ENST00000328090.5	+	11	1770	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	382																	GACAACAGCTCGGACTCTCCA	0.428																																						ENST00000328090.5																			0											c.(1144-1146)tCg>tTg		family with sequence similarity 208, member B							53.0	54.0	54.0					10																	5773107		1911	4106	6017	SO:0001583	missense	54906							g.chr10:5773107C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1145C>T	10.37:g.5773107C>T	ENSP00000328426:p.Ser382Leu					RP11-336A10.2_ENST00000411512.2_RNA	p.S382L	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			11	1770	+			382					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1145C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436543	0.12104	.	.	ENSG00000108021	ENST00000328090	D	0.98684	-5.07	5.19	2.22	0.28083	.	0.784920	0.11062	N	0.603913	D	0.96327	0.8802	L	0.54323	1.7	0.09310	N	1	B	0.27068	0.167	B	0.17433	0.018	D	0.92218	0.5782	10	0.51188	T	0.08	.	5.3882	0.16229	0.1378:0.6157:0.0:0.2465	.	382	Q5VWN6	F208B_HUMAN	L	382	ENSP00000328426:S382L	ENSP00000328426:S382L	S	+	2	0	C10orf18	5813113	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.044000	0.13992	0.371000	0.24564	-1.131000	0.01979	TCG		0.428	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		86	342	0	0	0	1	0	86	342				
HIST3H2BB	128312	broad.mit.edu	37	1	228646167	228646167	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646167T>C	ENST00000369160.2	+	1	360	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	113					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				GCACGCCGTGTCCGAGGGCAC	0.637																																						ENST00000369160.2																			0				skin(1)	1						c.(337-339)Tcc>Ccc		histone cluster 3, H2bb							56.0	56.0	56.0					1																	228646167		2203	4298	6501	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646167T>C	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.337T>C	1.37:g.228646167T>C	ENSP00000375736:p.Ser113Pro						p.S113P	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	360	+		Prostate(94;0.183)	113					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.337T>C	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	18.51	3.639928	0.67244	.	.	ENSG00000196890	ENST00000369160	T	0.46063	0.88	3.72	3.72	0.42706	Histone-fold (2);	0.000000	0.64402	D	0.000015	T	0.46795	0.1411	M	0.84511	2.7	0.58432	D	0.999996	B	0.24576	0.106	B	0.21546	0.035	T	0.55698	-0.8100	10	0.66056	D	0.02	.	11.0805	0.48057	0.0:0.0:0.0:1.0	.	113	Q8N257	H2B3B_HUMAN	P	113	ENSP00000375736:S113P	ENSP00000375736:S113P	S	+	1	0	HIST3H2BB	226712790	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.617000	0.67716	1.926000	0.55796	0.477000	0.44152	TCC		0.637	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		118	353	0	0	0	1	0	118	353				
PCDH7	5099	broad.mit.edu	37	4	30725148	30725148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30725148C>T	ENST00000361762.2	+	1	3112	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	702	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCTTTTGACCGGGAACATCA	0.468																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2104-2106)Cgg>Tgg		protocadherin 7							121.0	119.0	120.0					4																	30725148		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725148C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2104C>T	4.37:g.30725148C>T	ENSP00000355243:p.Arg702Trp					PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	p.R702W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3112	+			702			Cadherin 6.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2104C>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.221890|2.221890	0.39300|0.39300	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.60299	.|0.2;0.2	5.25|5.25	2.43|2.43	0.29744|0.29744	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	D|D	0.83440|0.83440	0.5255|0.5255	H|H	0.97291|0.97291	3.975|3.975	0.49130|0.49130	D|D	0.999753|0.999753	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.88153|0.88153	0.2852|0.2852	5|9	.|0.87932	.|D	.|0	.|.	14.7006|14.7006	0.69154|0.69154	0.6418:0.3582:0.0:0.0|0.6418:0.3582:0.0:0.0	.|.	.|702;655;702	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	L|W	391|702;702;655	.|ENSP00000355243:R702W;ENSP00000441802:R702W	.|ENSP00000330302:R655W	P|R	+|+	2|1	0|2	PCDH7|PCDH7	30334246|30334246	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.084000|0.084000	0.14891|0.14891	0.285000|0.285000	0.22329|0.22329	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.468	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		126	673	0	0	0	1	0	126	673				
EPDR1	54749	broad.mit.edu	37	7	37988649	37988649	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37988649C>A	ENST00000199448.4	+	2	856	c.477C>A	c.(475-477)tcC>tcA	p.S159S	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Splice_Site_p.S279S|EPDR1_ENST00000425345.1_Splice_Site_p.S98S|EPDR1_ENST00000476620.1_Splice_Site_p.S57S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	159					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CAGCTAGATCCTGTAAGGGTT	0.463																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.e2+1		ependymin related 1							53.0	55.0	54.0					7																	37988649		2203	4300	6503	SO:0001630	splice_region_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988649C>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.478+1C>A	7.37:g.37988649C>A						EPDR1_ENST00000559325.1_Splice_Site_p.S279_splice|EPDR1_ENST00000425345.1_Splice_Site_p.S98_splice|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Splice_Site_p.S57_splice	p.S159_splice	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			2	856	+			159					A8K4C0|C9JYS3|Q06BL0|Q99M77	Splice_Site	SNP	ENST00000199448.4	37	c.478_splice	CCDS5454.2																																																																																				0.463	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549	Silent	66	251	1	0	4.13886e-29	1	4.83036e-29	66	251				
DPP10	57628	broad.mit.edu	37	2	116283483	116283483	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116283483A>G	ENST00000410059.1	+	5	856	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	126						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAACCTTCAAAGCATCAAG	0.279																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(376-378)Aaa>Gaa		dipeptidyl-peptidase 10 (non-functional)							83.0	82.0	82.0					2																	116283483		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116283483A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.376A>G	2.37:g.116283483A>G	ENSP00000386565:p.Lys126Glu					DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E|DPP10_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000488208.1_3'UTR	p.K126E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			5	856	+			126					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.376A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070143	0.76301	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;D;T;T;D	0.95724	1.61;1.61;-3.79;1.61;1.61;-3.79	4.99	4.99	0.66335	.	0.252077	0.38837	N	0.001546	D	0.95573	0.8561	M	0.69823	2.125	0.38306	D	0.94311	P;P;P;P	0.51791	0.936;0.919;0.948;0.895	P;B;P;P	0.52217	0.693;0.3;0.63;0.496	D	0.94845	0.8008	10	0.23891	T	0.37	-30.62	12.5691	0.56326	1.0:0.0:0.0:0.0	.	119;130;122;126	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	126;76;122;130;119;76;76	ENSP00000386565:K126E;ENSP00000387038:K76E;ENSP00000376854:K122E;ENSP00000376855:K130E;ENSP00000309066:K119E;ENSP00000402499:K76E	ENSP00000309066:K119E	K	+	1	0	DPP10	115999953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.357000	0.73051	2.084000	0.62774	0.460000	0.39030	AAA		0.279	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		55	190	0	0	0	1	0	55	190				
MYH8	4626	broad.mit.edu	37	17	10318882	10318882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10318882G>A	ENST00000403437.2	-	7	649	c.555C>T	c.(553-555)gcC>gcT	p.A185A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	185	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTTTCCGGCACCAGATT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(553-555)gcC>gcT		myosin, heavy chain 8, skeletal muscle, perinatal							118.0	111.0	114.0					17																	10318882		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318882G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.555C>T	17.37:g.10318882G>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A185A	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			7	649	-			185			Myosin head-like.		Q14910	Silent	SNP	ENST00000403437.2	37	c.555C>T	CCDS11153.1																																																																																				0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		97	381	0	0	0	1	0	97	381				
KCNJ6	3763	broad.mit.edu	37	21	38997550	38997550	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38997550G>A	ENST00000609713.1	-	4	1772	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	KCNJ6_ENST00000288309.6_Silent_p.L395L	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	395					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCAGTCTCCAGTTCTGCATGT	0.502																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(1183-1185)Ctg>Ttg		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						214.0	201.0	205.0					21																	38997550		1888	4126	6014	SO:0001819	synonymous_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:38997550G>A	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.1183C>T	21.37:g.38997550G>A						KCNJ6_ENST00000288309.6_Silent_p.L395L	p.L395L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			4	1772	-			395					Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	c.1183C>T	CCDS42927.1																																																																																				0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		155	589	0	0	0	1	0	155	589				
PDE3A	5139	broad.mit.edu	37	12	20832995	20832995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20832995C>T	ENST00000359062.3	+	16	3256	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1072	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GAAAAATCTACTGCCAAATAA	0.378																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3214-3216)taC>taT		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						58.0	56.0	57.0					12																	20832995		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20832995C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3216C>T	12.37:g.20832995C>T						PDE3A_ENST00000544307.1_3'UTR	p.Y1072Y	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3256	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1072			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.3216C>T	CCDS31754.1																																																																																				0.378	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			35	242	0	0	0	1	0	35	242				
ARAP3	64411	broad.mit.edu	37	5	141059831	141059831	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059831A>G	ENST00000239440.4	-	2	288	c.223T>C	c.(223-225)Tca>Cca	p.S75P	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	75					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCACTATCTGATTTGGGATCC	0.632																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(223-225)Tca>Cca		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							87.0	93.0	91.0					5																	141059831		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059831A>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.223T>C	5.37:g.141059831A>G	ENSP00000239440:p.Ser75Pro					ARAP3_ENST00000508305.1_5'UTR	p.S75P	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			2	288	-			75					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.223T>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	A	2.403	-0.337227	0.05278	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	T;T	0.58652	3.17;0.32	4.35	-1.53	0.08611	.	1.612410	0.03777	N	0.260768	T	0.36248	0.0960	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.29301	T	0.29	.	8.6091	0.33791	0.3899:0.0:0.6101:0.0	.	75	Q8WWN8	ARAP3_HUMAN	P	75	ENSP00000239440:S75P;ENSP00000421148:S75P	ENSP00000239440:S75P	S	-	1	0	ARAP3	141040015	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.024000	0.13555	-0.140000	0.11394	0.374000	0.22700	TCA		0.632	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		131	557	0	0	0	1	0	131	557				
DDN	23109	broad.mit.edu	37	12	49391399	49391399	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49391399C>T	ENST00000421952.2	-	2	1281	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	420	Interaction with ACTN1.|Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTCCTGCCCCCTCTCCAAGAC	0.672																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1258-1260)gaG>gaA		dendrin							32.0	36.0	34.0					12																	49391399		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391399C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1260G>A	12.37:g.49391399C>T							p.E420E	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1281	-			420			Interaction with ACTN1.|Interaction with CD2AP and NPHS1 (By similarity).			Silent	SNP	ENST00000421952.2	37	c.1260G>A	CCDS31791.2																																																																																				0.672	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			9	313	0	0	0	1	0	9	313				
VPRBP	9730	broad.mit.edu	37	3	51458120	51458120	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51458120A>G	ENST00000335891.5	-	7	966	c.957T>C	c.(955-957)agT>agC	p.S319S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	768	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGACAGTGCTACTGCGAGACA	0.567																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(955-957)agT>agC		Vpr (HIV-1) binding protein							102.0	97.0	99.0					3																	51458120		1995	4169	6164	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51458120A>G	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.957T>C	3.37:g.51458120A>G							p.S319S			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	966	-			768					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.957T>C																																																																																					0.567	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		96	434	0	0	0	1	0	96	434				
GRM1	2911	broad.mit.edu	37	6	146720739	146720739	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720739T>G	ENST00000282753.1	+	7	2799	c.2564T>G	c.(2563-2565)gTt>gGt	p.V855G	GRM1_ENST00000361719.2_Missense_Mutation_p.V855G|GRM1_ENST00000392299.2_Missense_Mutation_p.V855G|GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000492807.2_Missense_Mutation_p.V855G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	855					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACCTCTGATGTTGTCCGCATG	0.532																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2563-2565)gTt>gGt		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						76.0	63.0	67.0					6																	146720739		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720739T>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2564T>G	6.37:g.146720739T>G	ENSP00000282753:p.Val855Gly					GRM1_ENST00000492807.2_Missense_Mutation_p.V855G|GRM1_ENST00000282753.1_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000361719.2_Missense_Mutation_p.V855G	p.V855G			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3034	+		Ovarian(120;0.0387)	855					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2564T>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323425	0.41096	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88586	-2.38;-2.4;-2.4;-2.38;-2.38;-2.4	5.68	5.68	0.88126	.	0.057513	0.64402	D	0.000001	D	0.84727	0.5536	M	0.79475	2.455	0.80722	D	1	B;P;P	0.39282	0.382;0.666;0.534	B;B;B	0.33339	0.149;0.162;0.149	D	0.87970	0.2736	10	0.72032	D	0.01	.	15.9149	0.79503	0.0:0.0:0.0:1.0	.	855;855;855	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	855	ENSP00000354896:V855G;ENSP00000376119:V855G;ENSP00000424095:V855G;ENSP00000282753:V855G;ENSP00000347437:V855G;ENSP00000425599:V855G	ENSP00000282753:V855G	V	+	2	0	GRM1	146762432	1.000000	0.71417	0.099000	0.21106	0.977000	0.68977	6.169000	0.71913	2.169000	0.68431	0.477000	0.44152	GTT		0.532	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		54	216	0	0	0	1	0	54	216				
FMR1	2332	broad.mit.edu	37	X	147024736	147024736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147024736G>A	ENST00000370475.4	+	14	1489	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FMR1_ENST00000218200.8_Missense_Mutation_p.R433H|FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	454	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R454P(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCAAATCGTACAGATAAG	0.448									Fragile X syndrome																													ENST00000218200.8																			1	Substitution - Missense(1)	p.R454P(1)	lung(1)	NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1297-1299)cGt>cAt		fragile X mental retardation 1							183.0	158.0	166.0					X																	147024736		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147024736G>A	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1361G>A	X.37:g.147024736G>A	ENSP00000359506:p.Arg454His					FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H|FMR1_ENST00000370475.4_Missense_Mutation_p.R454H|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H	p.R433H	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			13	1527	+	Acute lymphoblastic leukemia(192;6.56e-05)		454			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1298G>A	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263875	0.80358	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.91635	0.993;0.999;0.995;0.904;0.997	T	0.54892	-0.8225	10	0.37606	T	0.19	-20.0485	17.5771	0.87953	0.0:0.0:1.0:0.0	.	101;454;349;433;431	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	433;433;454;431;454;101	ENSP00000218200:R433H;ENSP00000359508:R433H;ENSP00000359506:R454H;ENSP00000395923:R431H;ENSP00000359501:R454H;ENSP00000413764:R101H	ENSP00000218200:R433H	R	+	2	0	FMR1	146832428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.593000	0.67550	2.367000	0.80283	0.600000	0.82982	CGT		0.448	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		136	498	0	0	0	1	0	136	498				
HIP1R	9026	broad.mit.edu	37	12	123339642	123339642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123339642C>T	ENST00000253083.4	+	10	944	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	273					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGCTGTACTTCAAGCGGCTCA	0.662																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(817-819)ttC>ttT		huntingtin interacting protein 1 related							88.0	96.0	94.0					12																	123339642		2203	4300	6503	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123339642C>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.819C>T	12.37:g.123339642C>T							p.F273F	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	10	944	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		273					A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.819C>T	CCDS31922.1																																																																																				0.662	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		168	614	0	0	0	1	0	168	614				
PARP4	143	broad.mit.edu	37	13	25068831	25068831	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068831G>A	ENST00000381989.3	-	7	726	c.621C>T	c.(619-621)acC>acT	p.T207T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	207					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATCTTCAGAGGTTTTCTTTA	0.313																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(619-621)acC>acT		poly (ADP-ribose) polymerase family, member 4							126.0	124.0	125.0					13																	25068831		2202	4299	6501	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25068831G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.621C>T	13.37:g.25068831G>A							p.T207T	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	7	726	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	207					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.621C>T	CCDS9307.1																																																																																				0.313	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		6	273	0	0	0	1	0	6	273				
NEBL	10529	broad.mit.edu	37	10	21309118	21309118	+	Silent	SNP	C	C	T	rs367567398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21309118C>T	ENST00000417816.2	-	3	530	c.177G>A	c.(175-177)aaG>aaA	p.K59K	NEBL_ENST00000377159.4_Silent_p.K25K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	104				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858). {ECO:0000305}.	cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGAAGGACTGCTTCGGGTAGT	0.413																																						ENST00000417816.2																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(175-177)aaG>aaA		nebulette		C	,	0,4406		0,0,2203	97.0	92.0	94.0		177,177	4.3	1.0	10		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NEBL	NM_001173484.1,NM_213569.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	59/225,59/271	21309118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21309118C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.177G>A	10.37:g.21309118C>T						NEBL_ENST00000377159.4_Silent_p.K25K	p.K59K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN			3	530	-			721	RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).				B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000417816.2	37	c.177G>A	CCDS7133.1																																																																																				0.413	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		80	291	0	0	0	1	0	80	291				
GNE	10020	broad.mit.edu	37	9	36218206	36218206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36218206G>A	ENST00000539815.1	-	10	1947	c.1907C>T	c.(1906-1908)gCg>gTg	p.A636V	GNE_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V|GNE_ENST00000396594.3_Missense_Mutation_p.A667V|GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000447283.2_Missense_Mutation_p.A562V			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	636	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTGGGCCTTCGCATTGCCAAG	0.582																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1999-2001)gCg>gTg		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							179.0	154.0	162.0					9																	36218206		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36218206G>A	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1907C>T	9.37:g.36218206G>A	ENSP00000439155:p.Ala636Val					GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000447283.2_Missense_Mutation_p.A562V|GNE_ENST00000539815.1_Missense_Mutation_p.A636V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V	p.A667V	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		11	2111	-			636			N-acetylmannosamine kinase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.2000C>T	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451269	0.26074	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99607	-4.8;-4.8;-4.8;-4.8;-6.27	5.58	1.28	0.21552	.	0.439248	0.28442	N	0.015329	D	0.97312	0.9121	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.001;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.006;0.001;0.001;0.0;0.0	D	0.94247	0.7490	10	0.27785	T	0.31	-8.3537	8.5766	0.33603	0.3503:0.0:0.6497:0.0	.	526;595;667;636;562	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	V	636;667;631;636;608;526;562	ENSP00000367134:A636V;ENSP00000379839:A667V;ENSP00000439155:A636V;ENSP00000445117:A526V;ENSP00000414760:A562V	ENSP00000340770:A631V	A	-	2	0	GNE	36208206	0.000000	0.05858	0.003000	0.11579	0.960000	0.62799	0.396000	0.20867	-0.048000	0.13401	0.561000	0.74099	GCG		0.582	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		192	738	0	0	0	1	0	192	738				
NES	10763	broad.mit.edu	37	1	156641406	156641406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641406C>T	ENST00000368223.3	-	4	2706	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	858	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GATTCATTGCCCCCTGATTTA	0.448																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2572-2574)ggG>ggA		nestin							105.0	107.0	107.0					1																	156641406		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641406C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2574G>A	1.37:g.156641406C>T							p.G858G	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2706	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		858	QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).		Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.2574G>A	CCDS1151.1																																																																																				0.448	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		59	534	0	0	0	1	0	59	534				
FOXC2	2303	broad.mit.edu	37	16	86601383	86601383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601383C>A	ENST00000320354.4	+	1	527	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	148					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TTACTGGACCCTGGACCCGGA	0.627									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(442-444)Ctg>Atg		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							58.0	69.0	65.0					16																	86601383		2198	4300	6498	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601383C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.442C>A	16.37:g.86601383C>A	ENSP00000326371:p.Leu148Met						p.L148M	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	527	+			148					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.442C>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025122	0.54683	.	.	ENSG00000176692	ENST00000320354	D	0.96913	-4.17	4.54	3.58	0.41010	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.43747	U	0.000525	D	0.97879	0.9303	M	0.85197	2.74	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.97920	1.0314	10	0.72032	D	0.01	.	11.5189	0.50539	0.0:0.9096:0.0:0.0904	.	148	Q99958	FOXC2_HUMAN	M	148	ENSP00000326371:L148M	ENSP00000326371:L148M	L	+	1	2	FOXC2	85158884	0.969000	0.33509	0.984000	0.44739	0.989000	0.77384	2.354000	0.44098	0.899000	0.36444	0.558000	0.71614	CTG		0.627	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		15	717	1	0	1.49906e-05	1	1.53515e-05	15	717				
LOXL4	84171	broad.mit.edu	37	10	100015438	100015438	+	Missense_Mutation	SNP	C	C	T	rs139275517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100015438C>T	ENST00000260702.3	-	10	1637	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	496	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCCTGAGCAGCGCACCCCACT	0.662																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(1486-1488)cGc>cAc		lysyl oxidase-like 4		C	HIS/ARG	0,4406		0,0,2203	69.0	65.0	67.0		1487	2.4	1.0	10	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL4	NM_032211.6	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	496/757	100015438	1,13005	2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100015438C>T	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1487G>A	10.37:g.100015438C>T	ENSP00000260702:p.Arg496His					RP11-34A14.3_ENST00000433374.1_RNA	p.R496H	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	10	1637	-		Colorectal(252;0.234)	496			SRCR 4.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.1487G>A	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023928	0.54683	0.0	1.16E-4	ENSG00000138131	ENST00000260702	T	0.36699	1.24	5.25	2.36	0.29203	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.191629	0.56097	N	0.000024	T	0.24928	0.0605	L	0.35487	1.065	0.38850	D	0.956265	B	0.12630	0.006	B	0.14023	0.01	T	0.07252	-1.0782	10	0.27785	T	0.31	.	9.7114	0.40247	0.0:0.7701:0.0:0.2299	.	496	Q96JB6	LOXL4_HUMAN	H	496	ENSP00000260702:R496H	ENSP00000260702:R496H	R	-	2	0	LOXL4	100005428	0.938000	0.31826	0.998000	0.56505	0.994000	0.84299	0.146000	0.16180	0.211000	0.20683	0.561000	0.74099	CGC		0.662	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		36	417	0	0	0	1	0	36	417				
AMFR	267	broad.mit.edu	37	16	56437031	56437031	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56437031C>T	ENST00000290649.5	-	7	1051		c.e7-1			NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase						aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGCCAAATAACTTAGAGAGAA	0.468																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.e7-1		autocrine motility factor receptor, E3 ubiquitin protein ligase							89.0	74.0	79.0					16																	56437031		2198	4300	6498	SO:0001630	splice_region_variant	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56437031C>T	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.841-1G>A	16.37:g.56437031C>T								NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			7	1051	-								P26442|Q8IZ70	Splice_Site	SNP	ENST00000290649.5	37		CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049295	0.75846	.	.	ENSG00000159461	ENST00000290649	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMFR	54994532	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	7.770000	0.85390	2.540000	0.85666	0.650000	0.86243	.		0.468	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2		Intron	56	293	0	0	0	1	0	56	293				
MSGN1	343930	broad.mit.edu	37	2	17998310	17998310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998310C>T	ENST00000281047.3	+	1	548	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	175	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAAGTACATCGGGGAACTCA	0.597																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(523-525)atC>atT		mesogenin 1							43.0	48.0	46.0					2																	17998310		2053	4197	6250	SO:0001819	synonymous_variant	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998310C>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.525C>T	2.37:g.17998310C>T							p.I175I	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	548	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		175			Helix-loop-helix motif.			Silent	SNP	ENST00000281047.3	37	c.525C>T	CCDS42657.1																																																																																				0.597	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		16	313	0	0	0	1	0	16	313				
LILRB5	10990	broad.mit.edu	37	19	54759962	54759962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54759962C>A	ENST00000316219.5	-	4	706	c.599G>T	c.(598-600)aGg>aTg	p.R200M	LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000450632.1_Missense_Mutation_p.R191M|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	200	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTTTTTCCTGTAATAGTA	0.532																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(571-573)aGg>aTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							56.0	64.0	61.0					19																	54759962		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54759962C>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.599G>T	19.37:g.54759962C>A	ENSP00000320390:p.Arg200Met					LILRB5_ENST00000316219.5_Missense_Mutation_p.R200M|LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000345866.6_Intron	p.R191M			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	649	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		200			Ig-like C2-type 2.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.572G>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371914	0.42003	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561	T;T;T	0.00768	5.72;5.72;5.72	3.25	0.989	0.19802	Immunoglobulin-like fold (1);	1.747240	0.03172	N	0.170856	T	0.04227	0.0117	M	0.84948	2.725	0.09310	N	1	D;D;D	0.76494	0.981;0.999;0.999	P;D;D	0.66847	0.783;0.932;0.947	T	0.27054	-1.0085	10	0.44086	T	0.13	.	4.4133	0.11443	0.0:0.6292:0.2346:0.1362	.	191;200;200	C9JMK7;O75023-3;O75023	.;.;LIRB5_HUMAN	M	200;191;200	ENSP00000320390:R200M;ENSP00000414225:R191M;ENSP00000406478:R200M	ENSP00000320390:R200M	R	-	2	0	LILRB5	59451774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.499000	0.06413	0.190000	0.20209	0.446000	0.29264	AGG		0.532	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			67	309	1	0	1.7104e-27	1	1.9812e-27	67	309				
MACF1	23499	broad.mit.edu	37	1	39926355	39926355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39926355C>T	ENST00000372915.3	+	91	21196	c.21109C>T	c.(21109-21111)Cgt>Tgt	p.R7037C	MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000564288.1_Missense_Mutation_p.R7138C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7037					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTATATGCGTTGGATGAA	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21412-21414)Cgt>Tgt		microtubule-actin crosslinking factor 1							151.0	154.0	153.0					1																	39926355		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39926355C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21109C>T	1.37:g.39926355C>T	ENSP00000362006:p.Arg7037Cys					MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000372915.3_Missense_Mutation_p.R7037C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C	p.R7138C			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		92	22189	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7037			C-terminal tail (By similarity).|GAR.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21412C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.354817|5.354817	0.95854|0.95854	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.08282	.|3.11;3.11;3.11;3.11;3.11;3.11	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.31040|0.31040	0.0784|0.0784	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	T|T	0.00173|0.00173	-1.1957|-1.1957	5|9	.|.	.|.	.|.	.|.	20.0695|20.0695	0.97716|0.97716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|7037;5079	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	V|C	4082;60|5079;7037;5079;5079;4949;5581	.|ENSP00000439537:R5079C;ENSP00000362006:R7037C;ENSP00000354573:R5079C;ENSP00000313438:R5079C;ENSP00000444364:R4949C;ENSP00000289893:R5581C	.|.	A|R	+|+	2|1	0|0	MACF1|MACF1	39698942|39698942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.081000|6.081000	0.71309|0.71309	2.761000|2.761000	0.94854|0.94854	0.585000|0.585000	0.79938|0.79938	GCG|CGT		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		111	439	0	0	0	1	0	111	439				
SLC27A5	10998	broad.mit.edu	37	19	59011712	59011712	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59011712C>A	ENST00000263093.2	-	6	1571	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	488					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATACCTAGCCCTACAGGGATG	0.612																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1462-1464)Ggg>Tgg		solute carrier family 27 (fatty acid transporter), member 5							88.0	81.0	83.0					19																	59011712		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59011712C>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1462G>T	19.37:g.59011712C>A	ENSP00000263093:p.Gly488Trp					SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W	p.G488W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	6	1571	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	488					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1462G>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160946	0.57368	.	.	ENSG00000083807	ENST00000263093	T	0.58210	0.35	5.33	1.55	0.23275	AMP-dependent synthetase/ligase (1);	1.014630	0.07860	N	0.966174	T	0.68247	0.2980	M	0.79926	2.475	0.09310	N	0.999998	D	0.63880	0.993	D	0.66602	0.945	T	0.50792	-0.8786	10	0.72032	D	0.01	-5.2809	4.028	0.09697	0.0:0.5624:0.1893:0.2483	.	488	Q9Y2P5	S27A5_HUMAN	W	488	ENSP00000263093:G488W	ENSP00000263093:G488W	G	-	1	0	SLC27A5	63703524	0.000000	0.05858	0.684000	0.30055	0.879000	0.50718	0.011000	0.13264	0.593000	0.29745	0.563000	0.77884	GGG		0.612	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		45	238	1	0	7.05121e-23	1	7.99584e-23	45	238				
VARS2	57176	broad.mit.edu	37	6	30888119	30888119	+	Missense_Mutation	SNP	C	C	T	rs200287550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30888119C>T	ENST00000321897.5	+	13	1935	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	VARS2_ENST00000542001.1_Missense_Mutation_p.R295W|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.R435W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	435					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGTCTTCACCGGTTTGTGGC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		16724	0.001		0.0	False		,,,				2504	0.0					ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(1303-1305)Cgg>Tgg		valyl-tRNA synthetase 2, mitochondrial							37.0	40.0	39.0					6																	30888119		2203	4300	6503	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30888119C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1303C>T	6.37:g.30888119C>T	ENSP00000316092:p.Arg435Trp					VARS2_ENST00000416670.2_Missense_Mutation_p.R435W|VARS2_ENST00000542001.1_Missense_Mutation_p.R295W|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W|VARS2_ENST00000476162.1_3'UTR	p.R435W			Q5ST30	SYVM_HUMAN			13	1935	+			435					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1303C>T	CCDS34387.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.39	3.108528	0.56291	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	4.27	4.27	0.50696	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	H	0.95079	3.62	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71971	-0.4431	10	0.87932	D	0	-10.3179	9.9348	0.41545	0.2031:0.7968:0.0:0.0	.	433;465;435	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	435;435;295;465	ENSP00000316092:R435W;ENSP00000394802:R435W;ENSP00000438200:R295W;ENSP00000441000:R465W	ENSP00000316092:R435W	R	+	1	2	VARS2	30996098	1.000000	0.71417	0.994000	0.49952	0.450000	0.32258	2.944000	0.49034	2.104000	0.64026	0.462000	0.41574	CGG		0.542	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		9	208	0	0	0	1	0	9	208				
ACAD11	84129	broad.mit.edu	37	3	132294689	132294689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132294689G>A	ENST00000264990.6	-	17	2899	c.1928C>T	c.(1927-1929)gCg>gTg	p.A643V	ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	643					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AGCGCGTTCCGCCAAACCTAC	0.463																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(1927-1929)gCg>gTg		acyl-CoA dehydrogenase family, member 11							107.0	100.0	102.0					3																	132294689		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132294689G>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1928C>T	3.37:g.132294689G>A	ENSP00000264990:p.Ala643Val					ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V	p.A643V	NM_032169.4	NP_115545.3					17	2899	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1928C>T	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.493939	0.96339	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.97186	-4.28;-4.28	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98748	0.9579	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99701	1.1004	9	0.87932	D	0	.	18.353	0.90344	0.0:0.0:1.0:0.0	.	643	Q709F0	ACD11_HUMAN	V	643;168	ENSP00000264990:A643V;ENSP00000446263:A168V	ENSP00000264990:A643V	A	-	2	0	ACAD11	133777379	1.000000	0.71417	0.831000	0.32960	0.967000	0.64934	9.033000	0.93741	2.615000	0.88500	0.591000	0.81541	GCG		0.463	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		73	277	0	0	0	1	0	73	277				
ETS2	2114	broad.mit.edu	37	21	40186851	40186851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40186851G>A	ENST00000360214.3	+	6	911	c.451G>A	c.(451-453)Gca>Aca	p.A151T	ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCTGGAGCTGGCACCTGACTT	0.512																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(451-453)Gca>Aca		v-ets avian erythroblastosis virus E26 oncogene homolog 2							190.0	189.0	189.0					21																	40186851		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40186851G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.451G>A	21.37:g.40186851G>A	ENSP00000353344:p.Ala151Thr					ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	p.A151T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			6	911	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	151			PNT.		A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.451G>A	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369851	0.82573	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.08	5.08	0.68730	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.162599	0.56097	D	0.000033	T	0.50531	0.1621	L	0.48935	1.535	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.955	T	0.49818	-0.8899	10	0.59425	D	0.04	.	18.8647	0.92287	0.0:0.0:1.0:0.0	.	151;151	P15036;C9JAG2	ETS2_HUMAN;.	T	151	ENSP00000353344:A151T;ENSP00000354194:A151T;ENSP00000401273:A151T;ENSP00000411086:A151T	ENSP00000353344:A151T	A	+	1	0	ETS2	39108721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.843000	0.86859	2.507000	0.84556	0.655000	0.94253	GCA		0.512	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			87	697	0	0	0	1	0	87	697				
AEBP1	165	broad.mit.edu	37	7	44148560	44148560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148560G>T	ENST00000223357.3	+	7	1308	c.1003G>T	c.(1003-1005)Gag>Tag	p.E335*	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	335					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACAGACGAAGAGAAGGAGGA	0.627																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(1003-1005)Gag>Tag		AE binding protein 1							60.0	53.0	55.0					7																	44148560		2196	4296	6492	SO:0001587	stop_gained	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44148560G>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1003G>T	7.37:g.44148560G>T	ENSP00000223357:p.Glu335*						p.E335*	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			7	1308	+			335					Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Nonsense_Mutation	SNP	ENST00000223357.3	37	c.1003G>T	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265895|5.265895	0.95399|0.95399	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000223357|ENST00000455443	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.695066|.	0.13617|.	N|.	0.374699|.	.|T	.|0.69043	.|0.3067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68387	.|-0.5422	.|4	0.87932|.	D|.	0|.	-26.7298|-26.7298	14.2378|14.2378	0.65938|0.65938	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	335|227	.|.	ENSP00000223357:E335X|.	E|R	+|+	1|2	0|0	AEBP1|AEBP1	44115085|44115085	0.995000|0.995000	0.38212|0.38212	0.982000|0.982000	0.44146|0.44146	0.924000|0.924000	0.55760|0.55760	3.008000|3.008000	0.49544|0.49544	2.167000|2.167000	0.68274|0.68274	0.491000|0.491000	0.48974|0.48974	GAG|AGA		0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		6	67	1	0	3.59834e-05	1	3.67436e-05	6	67				
ALPL	249	broad.mit.edu	37	1	21890669	21890669	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21890669A>G	ENST00000374840.3	+	6	858	c.608A>G	c.(607-609)gAc>gGc	p.D203G	ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G|ALPL_ENST00000425315.2_Missense_Mutation_p.D203G|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.D203G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	203					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGCTGTAAGGACATCGCCTAC	0.657																																						ENST00000374840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(607-609)gAc>gGc		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						84.0	75.0	78.0					1																	21890669		2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21890669A>G	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.608A>G	1.37:g.21890669A>G	ENSP00000363973:p.Asp203Gly					ALPL_ENST00000374832.1_Missense_Mutation_p.D203G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G|ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.D203G	p.D203G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	6	858	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	203					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.608A>G	CCDS217.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958174	0.92726	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.39	5.39	0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.90759	3.145	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.988	D;D;D	0.83275	0.996;0.979;0.955	D	0.99659	1.0993	10	0.72032	D	0.01	-32.7123	14.2145	0.65783	1.0:0.0:0.0:0.0	.	126;151;203	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	G	126;148;203;203;203	ENSP00000437674:D126G;ENSP00000442672:D148G;ENSP00000363973:D203G;ENSP00000363965:D203G;ENSP00000394765:D203G	ENSP00000363965:D203G	D	+	2	0	ALPL	21763256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.841000	0.92131	2.038000	0.60285	0.459000	0.35465	GAC		0.657	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		9	288	0	0	0	1	0	9	288				
DRC7	84229	broad.mit.edu	37	16	57762411	57762411	+	Missense_Mutation	SNP	C	C	T	rs373693140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57762411C>T	ENST00000360716.3	+	17	2527	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V			Q8IY82	CC135_HUMAN		769					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGCTGGCAGGCGGTGCGCCTC	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		16251	0.001		0.0	False		,,,				2504	0.0					ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2305-2307)gCg>gTg		coiled-coil domain containing 135		C	VAL/ALA	1,4391	2.1+/-5.4	0,1,2195	45.0	47.0	46.0		2306	4.2	0.9	16		46	0,8594		0,0,4297	no	missense	CCDC135	NM_032269.5	64	0,1,6492	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	769/875	57762411	1,12985	2196	4297	6493	SO:0001583	missense	84229					cytoplasm		g.chr16:57762411C>T																												ENST00000360716.3:c.2306C>T	16.37:g.57762411C>T	ENSP00000353942:p.Ala769Val					CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V	p.A769V			Q8IY82	CC135_HUMAN			17	2527	+			769					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2306C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.540465	0.65085	2.28E-4	0.0	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.53857	0.6;0.6;0.6	5.15	4.19	0.49359	.	0.119998	0.56097	D	0.000040	T	0.54208	0.1844	L	0.58969	1.84	0.50171	D	0.99985	P;D	0.71674	0.883;0.998	B;P	0.49192	0.146;0.602	T	0.55842	-0.8077	10	0.42905	T	0.14	-27.7712	11.8083	0.52169	0.0:0.9138:0.0:0.0862	.	704;769	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	769;704;769	ENSP00000377869:A769V;ENSP00000338938:A704V;ENSP00000353942:A769V	ENSP00000338938:A704V	A	+	2	0	CCDC135	56319912	0.998000	0.40836	0.943000	0.38184	0.601000	0.36947	4.120000	0.57897	2.399000	0.81585	0.491000	0.48974	GCG		0.622	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			59	271	0	0	0	1	0	59	271				
DCHS2	54798	broad.mit.edu	37	4	155241935	155241935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155241935C>A	ENST00000357232.4	-	14	3250	c.3251G>T	c.(3250-3252)gGc>gTc	p.G1084V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1084	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAAAAACTGCCGTCATCATC	0.448																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3250-3252)gGc>gTc		dachsous cadherin-related 2							248.0	268.0	261.0					4																	155241935		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241935C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3251G>T	4.37:g.155241935C>A	ENSP00000349768:p.Gly1084Val						p.G1084V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3250	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1084			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3251G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722369	0.68959	.	.	ENSG00000197410	ENST00000357232	T	0.61158	0.13	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81168	0.4766	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82794	-0.0281	10	0.52906	T	0.07	.	19.8145	0.96560	0.0:1.0:0.0:0.0	.	1084	Q6V1P9	PCD23_HUMAN	V	1084	ENSP00000349768:G1084V	ENSP00000349768:G1084V	G	-	2	0	DCHS2	155461385	1.000000	0.71417	0.935000	0.37517	0.467000	0.32768	7.487000	0.81328	2.683000	0.91414	0.563000	0.77884	GGC		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		148	579	1	0	1.20797e-82	1	1.54616e-82	148	579				
BHLHE22	27319	broad.mit.edu	37	8	65494072	65494072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:65494072C>T	ENST00000321870.1	+	1	1259	c.725C>T	c.(724-726)gCg>gTg	p.A242V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	242	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GAGCAAAAGGCGCTGCGGCTT	0.672																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(724-726)gCg>gTg		basic helix-loop-helix family, member e22							14.0	16.0	16.0					8																	65494072		2189	4297	6486	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494072C>T	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.725C>T	8.37:g.65494072C>T	ENSP00000318799:p.Ala242Val					RP11-21C4.1_ENST00000517909.1_RNA	p.A242V	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1259	+			242						Missense_Mutation	SNP	ENST00000321870.1	37	c.725C>T	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965507	0.18583	.	.	ENSG00000180828	ENST00000321870	T	0.80304	-1.36	4.02	3.13	0.36017	Helix-loop-helix DNA-binding (2);	0.803881	0.10963	U	0.614705	T	0.66470	0.2792	N	0.17631	0.505	0.28152	N	0.929339	P	0.41041	0.736	B	0.32928	0.155	T	0.56679	-0.7939	10	0.46703	T	0.11	0.9187	13.2565	0.60081	0.0:0.8386:0.1614:0.0	.	242	Q8NFJ8	BHE22_HUMAN	V	242	ENSP00000318799:A242V	ENSP00000318799:A242V	A	+	2	0	BHLHE22	65656626	0.950000	0.32346	1.000000	0.80357	0.399000	0.30720	1.823000	0.39062	0.851000	0.35264	-0.502000	0.04539	GCG		0.672	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		9	87	0	0	0	1	0	9	87				
CRB2	286204	broad.mit.edu	37	9	126132762	126132762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132762G>T	ENST00000373631.3	+	7	1431	c.1430G>T	c.(1429-1431)cGc>cTc	p.R477L	CRB2_ENST00000373629.2_Missense_Mutation_p.R145L|CRB2_ENST00000359999.3_Missense_Mutation_p.R477L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	477	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTGGCCACTCGCAATGACACC	0.617																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1429-1431)cGc>cTc		crumbs homolog 2 (Drosophila)							55.0	47.0	50.0					9																	126132762		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132762G>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1430G>T	9.37:g.126132762G>T	ENSP00000362734:p.Arg477Leu					CRB2_ENST00000359999.3_Missense_Mutation_p.R477L|CRB2_ENST00000373629.2_Missense_Mutation_p.R145L	p.R477L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1431	+			477			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1430G>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528863	0.27387	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.75477	-0.94;-0.94;-0.94	4.94	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.381500	0.19233	N	0.119356	T	0.63604	0.2525	L	0.43598	1.365	0.50039	D	0.999842	B;P	0.37233	0.22;0.588	B;B	0.36719	0.165;0.231	T	0.54523	-0.8281	10	0.27785	T	0.31	.	9.2438	0.37513	0.0768:0.0:0.7738:0.1494	.	477;477	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	L	477;477;145	ENSP00000353092:R477L;ENSP00000362734:R477L;ENSP00000362732:R145L	ENSP00000353092:R477L	R	+	2	0	CRB2	125172583	0.982000	0.34865	0.546000	0.28166	0.431000	0.31685	2.445000	0.44899	0.453000	0.26858	0.448000	0.29417	CGC		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		38	164	1	0	8.73648e-17	1	9.61379e-17	38	164				
ZMYND8	23613	broad.mit.edu	37	20	45856021	45856021	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45856021G>A	ENST00000311275.7	-	18	3134	c.2881C>T	c.(2881-2883)Cgc>Tgc	p.R961C	ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	961					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCAGCCTGCGAATCTGGAAG	0.537																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2881-2883)Cgc>Tgc		zinc finger, MYND-type containing 8							133.0	115.0	121.0					20																	45856021		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45856021G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2881C>T	20.37:g.45856021G>A	ENSP00000312237:p.Arg961Cys					ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C	p.R961C			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		18	3134	-			961					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2881C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940096|2.940096	0.52972|0.52972	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.75154|.	0.49;0.49;0.49;-0.91;-0.91;0.49;0.49;0.49;0.49;0.49;0.49;0.36;0.49|.	5.53|5.53	3.6|3.6	0.41247|0.41247	.|.	0.120930|.	0.56097|.	N|.	0.000026|.	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.74258|0.74258	2.255|2.255	0.47123|0.47123	D|D	0.999324|0.999324	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.022;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0|.	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.003;0.999;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.991;0.994;0.997;0.999|.	T|T	0.69859|0.69859	-0.5031|-0.5031	10|5	0.66056|.	D|.	0.02|.	-6.074|-6.074	11.9774|11.9774	0.53100|0.53100	0.1399:0.0:0.8601:0.0|0.1399:0.0:0.8601:0.0	.|.	829;988;883;890;981;915;910;935;935;961;852;910;909;854;863;961|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	C|L	910;961;829;916;982;935;961;988;961;852;935;883;909|842	ENSP00000354166:R910C;ENSP00000312237:R961C;ENSP00000392964:R829C;ENSP00000262975:R916C;ENSP00000420095:R982C;ENSP00000335537:R935C;ENSP00000379577:R961C;ENSP00000439800:R988C;ENSP00000348246:R961C;ENSP00000396725:R852C;ENSP00000418210:R935C;ENSP00000361093:R883C;ENSP00000443086:R909C|.	ENSP00000262975:R916C|.	R|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45289428|45289428	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.698000|0.698000	0.40448|0.40448	3.652000|3.652000	0.54439|0.54439	0.714000|0.714000	0.32081|0.32081	-0.237000|-0.237000	0.12165|0.12165	CGC|TCG		0.537	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		60	331	0	0	0	1	0	60	331				
IGHV3-16	28447	broad.mit.edu	37	14	106622221	106622221	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106622221G>T	ENST00000390604.2	-	0	120									immunoglobulin heavy variable 3-16 (non-functional)																		AGACACCCTGGTCAGAAACTG	0.507																																						ENST00000390604.2																			0																				89.0	81.0	84.0					14																	106622221		1887	4113	6000			0							g.chr14:106622221G>T	M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106622221G>T														0	120	-									RNA	SNP	ENST00000390604.2	37																																																																																						0.507	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1	NG_001019		143	555	1	0	9.15414e-77	1	1.16831e-76	143	555				
ANKRD13C	81573	broad.mit.edu	37	1	70742526	70742526	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70742526G>A	ENST00000370944.4	-	10	1530	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Splice_Site_p.P371L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	406					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTTCGAATCGGCTGCCAAAA	0.313																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.e10-1		ankyrin repeat domain 13C							47.0	52.0	50.0					1																	70742526		2203	4298	6501	SO:0001630	splice_region_variant	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70742526G>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1216-1C>T	1.37:g.70742526G>A						ANKRD13C_ENST00000262346.6_Splice_Site_p.P371_splice|ANKRD13C_ENST00000464236.1_5'UTR	p.P406_splice	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			10	1530	-			406					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Splice_Site	SNP	ENST00000370944.4	37	c.1215_splice	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958445	0.53400	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.42513	0.97;0.97	4.76	4.76	0.60689	.	0.048245	0.85682	D	0.000000	T	0.25419	0.0618	L	0.55990	1.75	0.80722	D	1	P;B	0.36282	0.546;0.387	B;B	0.32928	0.096;0.155	T	0.06789	-1.0807	10	0.22109	T	0.4	.	18.2515	0.90005	0.0:0.0:1.0:0.0	.	371;406	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	L	406;371	ENSP00000359982:P406L;ENSP00000262346:P371L	ENSP00000262346:P371L	P	-	2	0	ANKRD13C	70515114	1.000000	0.71417	0.846000	0.33378	0.642000	0.38348	8.934000	0.92915	2.564000	0.86499	0.563000	0.77884	CCG		0.313	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816	Missense_Mutation	28	144	0	0	0	1	0	28	144				
UBQLN1	29979	broad.mit.edu	37	9	86278795	86278795	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86278795G>T	ENST00000376395.4	-	10	2135	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	538				NP -> YS (in Ref. 4; BAB20436). {ECO:0000305}.	cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GATACCTGAGGATTTACTCCA	0.413																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(1612-1614)Cct>Act		ubiquilin 1							129.0	120.0	123.0					9																	86278795		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86278795G>T	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1612C>A	9.37:g.86278795G>T	ENSP00000365576:p.Pro538Thr					UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	p.P538T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			10	2135	-			538	NP -> YS (in Ref. 4; BAB20436).				Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.1612C>A	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237373	0.39498	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.42513	0.97;0.97	5.74	4.84	0.62591	.	0.070583	0.64402	D	0.000013	T	0.37999	0.1024	M	0.64567	1.98	0.34088	D	0.660352	B;B	0.19706	0.004;0.038	B;B	0.15052	0.012;0.01	T	0.43410	-0.9393	10	0.23302	T	0.38	.	11.1769	0.48606	0.0745:0.1609:0.7645:0.0	.	510;538	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	T	538;510	ENSP00000365576:P538T;ENSP00000257468:P510T	ENSP00000257468:P510T	P	-	1	0	UBQLN1	85468615	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.761000	0.47589	2.695000	0.91970	0.655000	0.94253	CCT		0.413	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		61	272	1	0	1.53716e-24	1	1.75837e-24	61	272				
WDR89	112840	broad.mit.edu	37	14	64066119	64066119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64066119C>T	ENST00000394942.2	-	2	630	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	181										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GTTGGGATTGCTGGGATGGAA	0.393																																						ENST00000394942.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(541-543)aGc>aAc		WD repeat domain 89							138.0	129.0	132.0					14																	64066119		2203	4300	6503	SO:0001583	missense	112840							g.chr14:64066119C>T	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.542G>A	14.37:g.64066119C>T	ENSP00000378399:p.Ser181Asn					WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	p.S181N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	630	-			181						Missense_Mutation	SNP	ENST00000394942.2	37	c.542G>A	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303448	0.23736	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.60920	0.15;0.15;0.15	6.02	1.5	0.22942	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.585075	0.19934	N	0.102794	T	0.23649	0.0572	N	0.02854	-0.475	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07809	-1.0753	10	0.21014	T	0.42	.	1.9776	0.03419	0.1223:0.4161:0.2101:0.2514	.	181	Q96FK6	WDR89_HUMAN	N	181	ENSP00000378399:S181N;ENSP00000267522:S181N;ENSP00000451702:S181N	ENSP00000267522:S181N	S	-	2	0	WDR89	63135872	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	0.056000	0.14256	0.887000	0.36136	0.650000	0.86243	AGC		0.393	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		80	401	0	0	0	1	0	80	401				
ANKAR	150709	broad.mit.edu	37	2	190593005	190593005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190593005G>A	ENST00000520309.1	+	14	2978	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N|ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	964						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTTCAAATAGATGTTAAGGA	0.284																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2890-2892)Gat>Aat		ankyrin and armadillo repeat containing							41.0	42.0	42.0					2																	190593005		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190593005G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2890G>A	2.37:g.190593005G>A	ENSP00000427882:p.Asp964Asn					ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N|ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N	p.D964N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		14	2978	+			964					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2890G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810057	0.32053	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412;ENST00000374838	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.87	3.95	0.45737	.	0.323646	0.23347	N	0.049164	T	0.24967	0.0606	L	0.44542	1.39	0.33538	D	0.594462	B	0.13145	0.007	B	0.16289	0.015	T	0.28332	-1.0047	10	0.66056	D	0.02	-26.6452	8.5771	0.33605	0.0923:0.1685:0.7392:0.0	.	40	E9PHS9	.	N	964;964;964;893;739;40	ENSP00000427882:D964N;ENSP00000313513:D964N;ENSP00000397243:D964N;ENSP00000393043:D893N;ENSP00000281412:D739N	ENSP00000281412:D739N	D	+	1	0	ANKAR	190301250	0.460000	0.25776	1.000000	0.80357	0.763000	0.43281	0.868000	0.27982	2.510000	0.84645	0.467000	0.42956	GAT		0.284	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		57	167	0	0	0	1	0	57	167				
ERBB4	2066	broad.mit.edu	37	2	212488760	212488760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212488760G>A	ENST00000342788.4	-	18	2399	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	697					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGAGTTAATGGTTCCACCAAC	0.458										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2089-2091)Cca>Tca		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							101.0	98.0	99.0					2																	212488760		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212488760G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2089C>T	2.37:g.212488760G>A	ENSP00000342235:p.Pro697Ser	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S	p.P697S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	18	2399	-		Renal(323;0.06)|Lung NSC(271;0.197)	697					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2089C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027476	0.93518	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76316	-0.99;-0.99;-1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.998	D;D;P;P	0.85130	0.911;0.997;0.863;0.861	D	0.88800	0.3284	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	687;687;697;697	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	697;697;687	ENSP00000342235:P697S;ENSP00000403204:P697S;ENSP00000385565:P687S	ENSP00000342235:P697S	P	-	1	0	ERBB4	212197005	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.837000	0.99465	2.805000	0.96524	0.655000	0.94253	CCA		0.458	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		60	277	0	0	0	1	0	60	277				
CNNM2	54805	broad.mit.edu	37	10	104836929	104836929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104836929G>A	ENST00000369878.4	+	8	2808	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	874					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAACGAAGGCGCCATCTAGGC	0.652																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(2620-2622)Gcc>Acc		cyclin M2							61.0	66.0	64.0					10																	104836929		2120	4225	6345	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104836929G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2620G>A	10.37:g.104836929G>A	ENSP00000358894:p.Ala874Thr					CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T|CNNM2_ENST00000457502.2_Missense_Mutation_p.A632T	p.A874T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	2744	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	874					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.2620G>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049847	0.75846	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.74737	-0.87	5.69	5.69	0.88448	.	0.119569	0.56097	D	0.000025	T	0.55561	0.1928	N	0.14661	0.345	0.39100	D	0.961268	P;P	0.42871	0.792;0.688	B;B	0.31245	0.126;0.059	T	0.66424	-0.5927	10	0.59425	D	0.04	.	15.2976	0.73922	0.0:0.1395:0.8605:0.0	.	852;874	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	T	875;853;874;852;573	ENSP00000358894:A874T	ENSP00000286899:A852T	A	+	1	0	CNNM2	104826919	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	2.188000	0.42612	2.677000	0.91161	0.555000	0.69702	GCC		0.652	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		57	293	0	0	0	1	0	57	293				
SUN1	23353	broad.mit.edu	37	7	897557	897557	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:897557A>C	ENST00000405266.1	+	14	1622	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T	SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000456758.2_Missense_Mutation_p.K685T			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	523					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACACGTGAAGACCGGCTGT	0.478																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2053-2055)aAg>aCg		Sad1 and UNC84 domain containing 1							131.0	144.0	140.0					7																	897557		2022	4169	6191	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897557A>C	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1598A>C	7.37:g.897557A>C	ENSP00000384116:p.Lys533Thr					SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T|SUN1_ENST00000405266.1_Missense_Mutation_p.K533T|SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T	p.K685T			O94901	SUN1_HUMAN			19	2054	+			523			SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.2054A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.11|13.11	2.138399|2.138399	0.37728|0.37728	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.27557	.|2.05;2.07;2.08;2.08;2.08;2.07;1.73;1.66	5.15|5.15	-0.28|-0.28	0.12886|0.12886	.|.	.|0.638636	.|0.17424	.|N	.|0.174706	T|T	0.41073|0.41073	0.1143|0.1143	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	.|P;B;P;D;P;P	.|0.59767	.|0.865;0.159;0.722;0.986;0.868;0.953	.|P;B;P;P;B;P	.|0.60949	.|0.675;0.379;0.488;0.881;0.316;0.766	T|T	0.21827|0.21827	-1.0234|-1.0234	5|10	.|0.66056	.|D	.|0.02	-14.0397|-14.0397	5.5309|5.5309	0.16985|0.16985	0.6499:0.1335:0.2167:0.0|0.6499:0.1335:0.2167:0.0	.|.	.|294;393;496;685;523;413	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	D|T	344|685;413;393;533;496;523;413;421;294	.|ENSP00000388743:K685T;ENSP00000374225:K413T;ENSP00000413439:K393T;ENSP00000384116:K533T;ENSP00000384015:K496T;ENSP00000392309:K413T;ENSP00000409909:K421T;ENSP00000389313:K294T	.|ENSP00000297445:K523T	E|K	+|+	3|2	2|0	SUN1|SUN1	864083|864083	0.101000|0.101000	0.21875|0.21875	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.341000|0.341000	0.19909|0.19909	-0.214000|-0.214000	0.10078|0.10078	-0.274000|-0.274000	0.10170|0.10170	GAA|AAG		0.478	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		75	840	0	0	0	1	0	75	840				
OR13C5	138799	broad.mit.edu	37	9	107360921	107360921	+	Missense_Mutation	SNP	C	C	T	rs76010537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107360921C>T	ENST00000374779.2	-	1	867	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	258			M -> T (in dbSNP:rs1851724).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTTCATGTACATGAGGAAGA	0.443																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(772-774)atG>atA		olfactory receptor, family 13, subfamily C, member 5							138.0	124.0	129.0					9																	107360921		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107360921C>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.774G>A	9.37:g.107360921C>T	ENSP00000363911:p.Met258Ile						p.M258I	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	867	-			258		M -> T (in dbSNP:rs1851724).			B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.774G>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271231	0.59649	.	.	ENSG00000255800	ENST00000374779	T	0.00145	8.67	4.03	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.395212	0.18447	U	0.140947	T	0.00178	0.0005	L	0.38175	1.15	0.22858	N	0.998648	P	0.44260	0.83	P	0.49085	0.6	T	0.42999	-0.9418	10	0.59425	D	0.04	.	6.158	0.20348	0.0:0.6722:0.0:0.3278	.	258	Q8NGS8	O13C5_HUMAN	I	258	ENSP00000363911:M258I	ENSP00000363911:M258I	M	-	3	0	OR13C5	106400742	0.038000	0.19896	0.950000	0.38849	0.296000	0.27459	0.068000	0.14531	0.925000	0.37094	0.423000	0.28283	ATG		0.443	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		77	296	0	0	0	1	0	77	296				
MACF1	23499	broad.mit.edu	37	1	39904950	39904950	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39904950C>A	ENST00000372915.3	+	71	18009	c.17922C>A	c.(17920-17922)atC>atA	p.I5974I	MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000564288.1_Silent_p.I6075I|MACF1_ENST00000545844.1_Silent_p.I4016I|MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000361689.2_Silent_p.I4016I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5974					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTCAGAAATCCAGGATAAAT	0.373																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18223-18225)atC>atA		microtubule-actin crosslinking factor 1							39.0	41.0	40.0					1																	39904950		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39904950C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17922C>A	1.37:g.39904950C>A						MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000545844.1_Silent_p.I4016I|MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000372915.3_Silent_p.I5974I|MACF1_ENST00000361689.2_Silent_p.I4016I	p.I6075I			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		72	19002	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6083					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.18225C>A		.	.	.	.	.	.	.	.	.	.	C	8.826	0.938741	0.18206	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.86	2.75	0.32379	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	9.3164	0.37937	0.3003:0.633:0.0:0.0668	.	.	.	.	T	3020	.	.	P	+	1	0	MACF1	39677537	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.510000	0.22723	0.256000	0.21614	0.650000	0.86243	CCA		0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		11	123	1	0	1.61879e-10	1	1.71755e-10	11	123				
TRIM3	10612	broad.mit.edu	37	11	6477726	6477726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477726G>A	ENST00000525074.1	-	6	1624	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R	TRIM3_ENST00000345851.3_Silent_p.R410R|TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000537602.1_Silent_p.R332R|TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	410					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGGCTGCCGCGCACTGGCT	0.677																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1228-1230)cgC>cgT		tripartite motif containing 3							16.0	16.0	16.0					11																	6477726		2191	4282	6473	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477726G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1230C>T	11.37:g.6477726G>A						TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000537602.1_Silent_p.R332R|TRIM3_ENST00000345851.3_Silent_p.R410R	p.R410R	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1624	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	410					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.1230C>T	CCDS7764.1																																																																																				0.677	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		42	132	0	0	0	1	0	42	132				
EHD3	30845	broad.mit.edu	37	2	31483495	31483495	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483495A>C	ENST00000322054.5	+	4	907	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	208	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAAAGCCCTCAAGAACCACGA	0.552																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(622-624)Aag>Cag		EH-domain containing 3							85.0	78.0	80.0					2																	31483495		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483495A>C	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.622A>C	2.37:g.31483495A>C	ENSP00000327116:p.Lys208Gln					EHD3_ENST00000541626.1_Intron	p.K208Q	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			4	907	+	Acute lymphoblastic leukemia(172;0.155)		208					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.622A>C	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988500	0.74589	.	.	ENSG00000013016	ENST00000322054	D	0.97016	-4.21	5.15	3.98	0.46160	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	M	0.62209	1.925	0.80722	D	1	P	0.48764	0.915	P	0.55161	0.77	D	0.95728	0.8772	10	0.59425	D	0.04	-38.4058	11.4487	0.50138	0.865:0.0:0.0:0.135	.	208	Q9NZN3	EHD3_HUMAN	Q	208	ENSP00000327116:K208Q	ENSP00000327116:K208Q	K	+	1	0	EHD3	31336999	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.179000	0.77665	0.957000	0.37930	0.459000	0.35465	AAG		0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		74	202	0	0	0	1	0	74	202				
SATB2	23314	broad.mit.edu	37	2	200137137	200137137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137137G>A	ENST00000417098.1	-	11	2815	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	SATB2_ENST00000443023.1_Missense_Mutation_p.R608W|SATB2_ENST00000457245.1_Missense_Mutation_p.R667W|SATB2_ENST00000428695.1_Missense_Mutation_p.R549W|SATB2_ENST00000260926.5_Missense_Mutation_p.R667W	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	667					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACGTGGTACCGCTGGTTCTGG	0.562																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1822-1824)Cgg>Tgg		SATB homeobox 2							160.0	142.0	148.0					2																	200137137		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137137G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1999C>T	2.37:g.200137137G>A	ENSP00000401112:p.Arg667Trp					SATB2_ENST00000260926.5_Missense_Mutation_p.R667W|SATB2_ENST00000428695.1_Missense_Mutation_p.R549W|SATB2_ENST00000457245.1_Missense_Mutation_p.R667W|SATB2_ENST00000417098.1_Missense_Mutation_p.R667W	p.R608W			Q9UPW6	SATB2_HUMAN			10	3287	-			667					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1822C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827751	0.71143	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51	5.5	2.55	0.30701	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.98188	1.0461	10	0.87932	D	0	-17.9892	14.6014	0.68443	0.0:0.0:0.6084:0.3916	.	549;667	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	W	667;608;667;549;667	ENSP00000401112:R667W;ENSP00000388764:R608W;ENSP00000260926:R667W;ENSP00000388581:R549W;ENSP00000405420:R667W	ENSP00000260926:R667W	R	-	1	2	SATB2	199845382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.612000	0.61169	0.294000	0.22547	0.650000	0.86243	CGG		0.562	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		16	645	0	0	0	1	0	16	645				
TPP2	7174	broad.mit.edu	37	13	103288009	103288009	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103288009C>A	ENST00000376065.4	+	12	1502	c.1466C>A	c.(1465-1467)gCt>gAt	p.A489D	TPP2_ENST00000376052.3_Missense_Mutation_p.A489D	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	489	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGTGAAGGCTGACAATATA	0.333																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(1465-1467)gCt>gAt		tripeptidyl peptidase II							117.0	117.0	117.0					13																	103288009		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103288009C>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1466C>A	13.37:g.103288009C>A	ENSP00000365233:p.Ala489Asp					TPP2_ENST00000376065.4_Missense_Mutation_p.A489D	p.A489D			P29144	TPP2_HUMAN			12	1482	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		489					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.1466C>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258655	0.59321	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.88354	-2.37;-2.37	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.158737	0.56097	D	0.000033	D	0.87111	0.6096	L	0.33710	1.025	0.50467	D	0.999874	P	0.49253	0.921	P	0.48952	0.596	D	0.86781	0.1979	10	0.45353	T	0.12	.	14.3065	0.66389	0.0:0.9295:0.0:0.0705	.	489	P29144	TPP2_HUMAN	D	489	ENSP00000365233:A489D;ENSP00000365220:A489D	ENSP00000365220:A489D	A	+	2	0	TPP2	102086010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.766000	0.55280	2.763000	0.94921	0.563000	0.77884	GCT		0.333	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			69	343	1	0	7.07328e-35	1	8.4269e-35	69	343				
HSD17B13	345275	broad.mit.edu	37	4	88231425	88231425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88231425G>A	ENST00000328546.4	-	6	846	c.782C>T	c.(781-783)tCg>tTg	p.S261L	HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	261						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATTGATATACGATGGAACAAA	0.313																																						ENST00000328546.4																			0				endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(781-783)tCg>tTg		hydroxysteroid (17-beta) dehydrogenase 13							101.0	104.0	103.0					4																	88231425		2202	4300	6502	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88231425G>A		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.782C>T	4.37:g.88231425G>A	ENSP00000333300:p.Ser261Leu					HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	p.S261L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	6	846	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	261					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.782C>T	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800683	0.31869	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.88741	-2.42;-2.42	5.08	4.23	0.50019	.	0.250955	0.27600	N	0.018643	D	0.89287	0.6672	M	0.83223	2.63	0.35195	D	0.77378	B;B	0.24317	0.101;0.097	B;B	0.26094	0.045;0.066	D	0.88930	0.3372	10	0.28530	T	0.3	.	14.6226	0.68597	0.0:0.1467:0.8533:0.0	.	225;261	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	L	225;261	ENSP00000305438:S225L;ENSP00000333300:S261L	ENSP00000305438:S225L	S	-	2	0	HSD17B13	88450449	0.996000	0.38824	0.717000	0.30585	0.447000	0.32167	2.874000	0.48483	1.126000	0.42016	0.650000	0.86243	TCG		0.313	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		70	270	0	0	0	1	0	70	270				
KCNT1	57582	broad.mit.edu	37	9	138662175	138662175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138662175C>T	ENST00000263604.3	+	17	1594	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000298480.5_Missense_Mutation_p.R551C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	532	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTGGCAGCGCATGTATGG	0.677																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1651-1653)Cgc>Tgc		potassium channel, subfamily T, member 1							55.0	47.0	50.0					9																	138662175		2202	4300	6502	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138662175C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1594C>T	9.37:g.138662175C>T	ENSP00000263604:p.Arg532Cys					KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000263604.3_Missense_Mutation_p.R532C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C	p.R551C			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	17	1725	+		Myeloproliferative disorder(178;0.0821)	551					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1651C>T		.	.	.	.	.	.	.	.	.	.	C	18.25	3.583234	0.65992	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.24	3.25	0.37280	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.62723	1.935	0.80722	D	1	D;P;D;D	0.76494	0.999;0.882;0.997;0.997	P;B;P;P	0.61658	0.892;0.418;0.827;0.892	T	0.56007	-0.8050	10	0.87932	D	0	-16.3187	7.8272	0.29322	0.2883:0.5633:0.1484:0.0	.	518;551;506;532	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	506;551;551;512;518;532;532;532	ENSP00000417851:R506C;ENSP00000298480:R551C;ENSP00000360822:R551C;ENSP00000263604:R532C	ENSP00000263604:R532C	R	+	1	0	KCNT1	137801996	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.689000	0.37700	1.923000	0.55706	0.585000	0.79938	CGC		0.677	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		62	275	0	0	0	1	0	62	275				
SYNRG	11276	broad.mit.edu	37	17	35896132	35896132	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35896132G>A	ENST00000339208.6	-	19	3755	c.3615C>T	c.(3613-3615)atC>atT	p.I1205I	SYNRG_ENST00000394378.2_Silent_p.I1127I|SYNRG_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000591288.1_Silent_p.I999I|SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000345615.4_Silent_p.I1127I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1205					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATACTTTATCGATGTCCTTCA	0.478																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3613-3615)atC>atT		synergin, gamma							198.0	162.0	174.0					17																	35896132		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35896132G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3615C>T	17.37:g.35896132G>A						SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000345615.4_Silent_p.I1127I|SYNRG_ENST00000394378.2_Silent_p.I1127I|SYNRG_ENST00000591288.1_Silent_p.I999I	p.I1205I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			19	3755	-			1205					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3615C>T	CCDS11321.1																																																																																				0.478	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		45	224	0	0	0	1	0	45	224				
CITED2	10370	broad.mit.edu	37	6	139695019	139695019	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139695019G>A	ENST00000367651.2	-	2	278	c.63C>T	c.(61-63)caC>caT	p.H21H	CITED2_ENST00000537332.1_Silent_p.H21H|CITED2_ENST00000536159.1_Silent_p.H21H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	21	His-rich.				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGGGTGATGGTGCAGCCCAT	0.622																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2																			0				large_intestine(1)|lung(4)	5						c.(61-63)caC>caT		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							43.0	40.0	41.0					6																	139695019		2203	4300	6503	SO:0001819	synonymous_variant	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139695019G>A	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.63C>T	6.37:g.139695019G>A						CITED2_ENST00000536159.1_Silent_p.H21H|CITED2_ENST00000537332.1_Silent_p.H21H	p.H21H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	278	-	Breast(32;0.226)		21			His-rich.		O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	37	c.63C>T	CCDS5195.1																																																																																				0.622	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			36	153	0	0	0	1	0	36	153				
TOX4	9878	broad.mit.edu	37	14	21961134	21961134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21961134G>T	ENST00000405508.1	+	8	1635	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H|TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	453	Gln/Pro-rich.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGATGCCACAGCCCCCGACTC	0.567																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1357-1359)caG>caT		TOX high mobility group box family member 4							95.0	88.0	90.0					14																	21961134		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961134G>T	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1359G>T	14.37:g.21961134G>T	ENSP00000385102:p.Gln453His					TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H|TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H	p.Q453H			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1635	+	all_cancers(95;0.000465)		453			Gln/Pro-rich.		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1359G>T	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069594	0.20147	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.15139	2.45;2.45;2.47	4.96	1.09	0.20402	.	0.672239	0.14521	N	0.314432	T	0.11495	0.0280	N	0.08118	0	0.37097	D	0.899727	D;D	0.56521	0.976;0.976	P;P	0.47528	0.549;0.549	T	0.22871	-1.0204	10	0.38643	T	0.18	.	12.175	0.54180	0.2895:0.0:0.7105:0.0	.	430;453	B4DPY8;O94842	.;TOX4_HUMAN	H	453;453;430;381	ENSP00000385102:Q453H;ENSP00000262709:Q453H;ENSP00000393080:Q430H	ENSP00000262709:Q453H	Q	+	3	2	TOX4	21030974	0.998000	0.40836	0.999000	0.59377	0.154000	0.21943	0.605000	0.24179	0.106000	0.17784	-1.644000	0.00765	CAG		0.567	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		170	764	1	0	2.83946e-81	1	3.63311e-81	170	764				
NRAP	4892	broad.mit.edu	37	10	115365537	115365537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115365537C>A	ENST00000359988.3	-	34	4143	c.3899G>T	c.(3898-3900)gGa>gTa	p.G1300V	NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V|NRAP_ENST00000369358.4_Missense_Mutation_p.G1308V|NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGCTATATCTCCAGAGGCCCG	0.458																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3922-3924)gGa>gTa		nebulin-related anchoring protein							298.0	311.0	306.0					10																	115365537		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115365537C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3899G>T	10.37:g.115365537C>A	ENSP00000353078:p.Gly1300Val					NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V|NRAP_ENST00000359988.3_Missense_Mutation_p.G1300V|NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V	p.G1308V			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	34	4167	-		Colorectal(252;0.0233)|Breast(234;0.188)	1300						Missense_Mutation	SNP	ENST00000359988.3	37	c.3923G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893655	0.33442	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16324	2.56;2.56;2.44;2.35	5.24	5.24	0.73138	.	0.298590	0.37483	N	0.002077	T	0.20251	0.0487	L	0.46157	1.445	0.53005	D	0.999964	B;P;B	0.34462	0.325;0.454;0.325	B;B;B	0.38985	0.15;0.287;0.15	T	0.01729	-1.1286	10	0.34782	T	0.22	.	14.7668	0.69646	0.0:0.8558:0.1442:0.0	.	1300;1265;1300	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	1308;1273;1300;1265	ENSP00000358365:G1308V;ENSP00000358367:G1273V;ENSP00000353078:G1300V;ENSP00000353666:G1265V	ENSP00000353078:G1300V	G	-	2	0	NRAP	115355527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.155000	0.50700	2.622000	0.88805	0.555000	0.69702	GGA		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		391	1832	1	0	2.62042e-76	1	3.34351e-76	391	1832				
AZU1	566	broad.mit.edu	37	19	828350	828350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:828350G>A	ENST00000233997.2	+	2	200	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	60	Hydrophobic.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.|Possesses antibiotic activity.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCATGCCCGCTTCGTGATG	0.667																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(178-180)cGc>cAc		azurocidin 1							41.0	47.0	45.0					19																	828350		2203	4296	6499	SO:0001583	missense	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:828350G>A	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.179G>A	19.37:g.828350G>A	ENSP00000233997:p.Arg60His						p.R60H	NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	200	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	60			Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	c.179G>A	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134797	0.37728	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.89050	-2.46	2.4	-1.21	0.09524	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89417	0.6709	M	0.82923	2.615	0.09310	N	1	D	0.56521	0.976	P	0.51229	0.663	T	0.80141	-0.1506	9	0.66056	D	0.02	.	2.6299	0.04941	0.3483:0.2644:0.3873:0.0	.	60	P20160	CAP7_HUMAN	H	74;60	ENSP00000233997:R60H	ENSP00000233997:R60H	R	+	2	0	AZU1	779350	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.409000	0.07160	-0.061000	0.13110	0.511000	0.50034	CGC		0.667	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		149	472	0	0	0	1	0	149	472				
ABCG1	9619	broad.mit.edu	37	21	43708092	43708092	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43708092A>G	ENST00000361802.2	+	9	1212	c.1067A>G	c.(1066-1068)gAc>gGc	p.D356G	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000398437.1_Missense_Mutation_p.D502G	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	356					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CACAAGAGAGACCTCGGGGGT	0.547																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1504-1506)gAc>gGc		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						171.0	172.0	172.0					21																	43708092		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43708092A>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1067A>G	21.37:g.43708092A>G	ENSP00000354995:p.Asp356Gly					ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000361802.2_Missense_Mutation_p.D356G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G	p.D502G			P45844	ABCG1_HUMAN			10	1653	+			356			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1505A>G	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819420	0.50633	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;D;T;D;D	0.86562	0.93;0.93;0.93;-1.97;0.93;-2.14;-2.11	4.64	4.64	0.57946	.	0.570497	0.17962	N	0.156123	T	0.75686	0.3883	N	0.12746	0.255	0.51233	D	0.999913	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.003;0.002;0.001	T	0.69034	-0.5252	9	.	.	.	-25.0065	14.0615	0.64802	1.0:0.0:0.0:0.0	.	367;367;356;356;353;358	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	G	358;353;356;356;367;502;464	ENSP00000381475:D358G;ENSP00000291524:D353G;ENSP00000381467:D356G;ENSP00000354995:D356G;ENSP00000339744:D367G;ENSP00000381464:D502G;ENSP00000343820:D464G	.	D	+	2	0	ABCG1	42581161	0.982000	0.34865	0.557000	0.28306	0.974000	0.67602	5.067000	0.64357	1.729000	0.51567	0.383000	0.25322	GAC		0.547	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		105	936	0	0	0	1	0	105	936				
LOC100130331	100130331	broad.mit.edu	37	1	238090752	238090752	+	RNA	SNP	G	G	A	rs533243179		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238090752G>A	ENST00000450451.1	+	0	2258					NR_027247.2																						TCGGCCCAGCGGGAGATCATG	0.612																																						ENST00000450451.1																			0																																																			0							g.chr1:238090752G>A																													1.37:g.238090752G>A								NR_027247.2						0	2258	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.612	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			26	83	0	0	0	1	0	26	83				
PCDHGA8	9708	broad.mit.edu	37	5	140774173	140774173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140774173C>T	ENST00000398604.2	+	1	1793	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGACTCGGGCCAGAAC	0.711																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1792-1794)tCg>tTg									28.0	36.0	33.0					5																	140774173		2198	4294	6492	SO:0001583	missense	0							g.chr5:140774173C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1793C>T	5.37:g.140774173C>T	ENSP00000381605:p.Ser598Leu					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S598L	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1793	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1793C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	25.7	4.663205	0.88251	.	.	ENSG00000253767	ENST00000398604	T	0.49432	0.78	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.28214	U	0.016170	T	0.71417	0.3337	M	0.80028	2.48	0.42614	D	0.993329	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.76697	-0.2864	10	0.87932	D	0	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	598;598	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	L	598	ENSP00000381605:S598L	ENSP00000381605:S598L	S	+	2	0	PCDHGA8	140754357	0.972000	0.33761	0.972000	0.41901	0.996000	0.88848	2.485000	0.45250	2.366000	0.80165	0.655000	0.94253	TCG		0.711	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		80	433	0	0	0	1	0	80	433				
NFKBIA	4792	broad.mit.edu	37	14	35872963	35872963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35872963G>A	ENST00000216797.5	-	2	370	c.269C>T	c.(268-270)aCc>aTc	p.T90I	NFKBIA_ENST00000557140.1_Missense_Mutation_p.T90I|NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	90					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CACTTCCATGGTCAGTGCCTT	0.607																																						ENST00000216797.5																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(268-270)aCc>aTc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha							80.0	67.0	71.0					14																	35872963		2203	4300	6503	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35872963G>A		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.269C>T	14.37:g.35872963G>A	ENSP00000216797:p.Thr90Ile					NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.T90I	p.T90I	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	2	370	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		90					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.269C>T	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739977	0.69304	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	T;T;T	0.78924	-0.01;-0.01;-1.22	5.93	5.93	0.95920	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.57051	0.2027	N	0.04508	-0.205	0.80722	D	1	B;B	0.22211	0.053;0.066	B;B	0.24974	0.019;0.057	T	0.55673	-0.8104	9	0.37606	T	0.19	-17.6661	9.3287	0.38008	0.0777:0.1894:0.7329:0.0	.	90;90	G3V3I4;P25963	.;IKBA_HUMAN	I	90;90;66	ENSP00000216797:T90I;ENSP00000451257:T90I;ENSP00000451281:T66I	ENSP00000216797:T90I	T	-	2	0	NFKBIA	34942714	0.991000	0.36638	0.999000	0.59377	0.963000	0.63663	2.637000	0.46553	2.814000	0.96858	0.563000	0.77884	ACC		0.607	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		26	114	0	0	0	1	0	26	114				
CAND2	23066	broad.mit.edu	37	3	12854865	12854865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12854865G>T	ENST00000456430.2	+	7	1025	c.984G>T	c.(982-984)gaG>gaT	p.E328D	CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	328					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGACAGAGGATAGTGAAT	0.537																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(982-984)gaG>gaT		cullin-associated and neddylation-dissociated 2 (putative)							139.0	145.0	143.0					3																	12854865		2109	4225	6334	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12854865G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.984G>T	3.37:g.12854865G>T	ENSP00000387641:p.Glu328Asp					CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	p.E328D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			7	1025	+			328					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.984G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922797	0.18056	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.07021	3.23;3.23	4.67	-0.724	0.11177	Armadillo-type fold (1);	0.190310	0.35970	N	0.002877	T	0.05640	0.0148	N	0.02420	-0.555	0.80722	D	1	B;D	0.56035	0.002;0.974	B;D	0.70487	0.006;0.969	T	0.49062	-0.8978	10	0.10111	T	0.7	-10.9144	5.4665	0.16646	0.3542:0.1424:0.5033:0.0	.	328;235	O75155;O75155-2	CAND2_HUMAN;.	D	235;328	ENSP00000295989:E235D;ENSP00000387641:E328D	ENSP00000295989:E235D	E	+	3	2	CAND2	12829865	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	0.983000	0.29552	0.023000	0.15187	0.462000	0.41574	GAG		0.537	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		36	136	1	0	7.04047e-22	1	7.94894e-22	36	136				
PYROXD1	79912	broad.mit.edu	37	12	21598390	21598390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21598390G>T	ENST00000240651.9	+	3	329	c.275G>T	c.(274-276)aGt>aTt	p.S92I	PYROXD1_ENST00000538582.1_Missense_Mutation_p.S21I|PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	92							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CAACTGAAGAGTGAAGAACAC	0.363																																						ENST00000538582.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.(61-63)aGt>aTt		pyridine nucleotide-disulphide oxidoreductase domain 1							59.0	58.0	58.0					12																	21598390		2203	4300	6503	SO:0001583	missense	79912						oxidoreductase activity	g.chr12:21598390G>T	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.275G>T	12.37:g.21598390G>T	ENSP00000240651:p.Ser92Ile					PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I|PYROXD1_ENST00000240651.9_Missense_Mutation_p.S92I	p.S21I			Q8WU10	PYRD1_HUMAN			3	815	+			92					A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	c.62G>T	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208227	0.39003	.	.	ENSG00000121350	ENST00000545178;ENST00000240651;ENST00000538582	T;T;T	0.47869	0.85;0.85;0.83	5.3	4.36	0.52297	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.168957	0.64402	D	0.000004	T	0.47619	0.1455	M	0.64567	1.98	0.52501	D	0.999955	B	0.25272	0.122	B	0.29176	0.099	T	0.43180	-0.9407	10	0.19147	T	0.46	.	17.5454	0.87859	0.0:0.1342:0.8658:0.0	.	92	Q8WU10	PYRD1_HUMAN	I	92;92;21	ENSP00000443912:S92I;ENSP00000240651:S92I;ENSP00000438505:S21I	ENSP00000240651:S92I	S	+	2	0	PYROXD1	21489657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.707000	0.61852	2.463000	0.83235	0.650000	0.86243	AGT		0.363	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		20	143	1	0	9.57634e-11	1	1.01752e-10	20	143				
GIMAP8	155038	broad.mit.edu	37	7	150171653	150171653	+	Silent	SNP	G	G	A	rs149276246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150171653G>A	ENST00000307271.3	+	4	1810	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	412	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A412A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGGCAGGCGGACGAGCTCC	0.413													g|||	2	0.000399361	0.0	0.0014	5008	,	,		14061	0.0		0.001	False		,,,				2504	0.0					ENST00000307271.3																			1	Substitution - coding silent(1)	p.A412A(1)	lung(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1234-1236)gcG>gcA		GTPase, IMAP family member 8		A		0,4406		0,0,2203	91.0	99.0	96.0		1236	-2.8	0.0	7	dbSNP_134	96	9,8591	818.9+/-406.8	0,9,4291	no	coding-synonymous	GIMAP8	NM_175571.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		412/666	150171653	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171653G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1236G>A	7.37:g.150171653G>A							p.A412A	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1810	+			412						Silent	SNP	ENST00000307271.3	37	c.1236G>A	CCDS34777.1																																																																																				0.413	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		82	445	0	0	0	1	0	82	445				
ANAPC1	64682	broad.mit.edu	37	2	112601003	112601003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112601003C>T	ENST00000341068.3	-	17	2798	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	676					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAGTCCATGCTAAGCGGTCT	0.353																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(2026-2028)Gca>Aca		anaphase promoting complex subunit 1							130.0	121.0	124.0					2																	112601003		2202	4300	6502	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112601003C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2026G>A	2.37:g.112601003C>T	ENSP00000339109:p.Ala676Thr						p.A676T	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			17	2798	-			676					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.2026G>A	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.884|6.884	0.532519|0.532519	0.13127|0.13127	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|.	0.48201|.	0.82|.	4.51|4.51	3.63|3.63	0.41609|0.41609	.|.	0.375961|.	0.17661|.	N|.	0.166306|.	T|T	0.26340|0.26340	0.0643|0.0643	N|N	0.17631|0.17631	0.505|0.505	0.30186|0.30186	N|N	0.79999|0.79999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.13853|.	T|.	0.58|.	-8.0213|-8.0213	4.8761|4.8761	0.13656|0.13656	0.2894:0.5447:0.0:0.1659|0.2894:0.5447:0.0:0.1659	.|.	676|.	Q9H1A4|.	APC1_HUMAN|.	T|N	676|210	ENSP00000339109:A676T|.	ENSP00000339109:A676T|.	A|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112317474|112317474	0.983000|0.983000	0.35010|0.35010	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	0.399000|0.399000	0.20916|0.20916	0.875000|0.875000	0.35847|0.35847	0.446000|0.446000	0.29264|0.29264	GCA|AGC		0.353	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		48	213	0	0	0	1	0	48	213				
CHD5	26038	broad.mit.edu	37	1	6166503	6166503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6166503C>T	ENST00000262450.3	-	40	5908	c.5809G>A	c.(5809-5811)Gga>Aga	p.G1937R	CHD5_ENST00000378021.1_Intron	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACAATCCCTCCCGGTCCAGGG	0.657																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5809-5811)Gga>Aga		chromodomain helicase DNA binding protein 5							26.0	24.0	24.0					1																	6166503		2162	4261	6423	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6166503C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5809G>A	1.37:g.6166503C>T	ENSP00000262450:p.Gly1937Arg					CHD5_ENST00000378021.1_Intron	p.G1937R	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	40	5908	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1937					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5809G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051807	0.55218	.	.	ENSG00000116254	ENST00000262450	D	0.90324	-2.65	4.86	4.86	0.63082	.	0.688966	0.13390	N	0.391516	D	0.86661	0.5986	L	0.27053	0.805	0.80722	D	1	B	0.33022	0.394	B	0.32864	0.154	D	0.85433	0.1150	10	0.62326	D	0.03	-0.5348	18.3532	0.90345	0.0:1.0:0.0:0.0	.	1937	Q8TDI0	CHD5_HUMAN	R	1937	ENSP00000262450:G1937R	ENSP00000262450:G1937R	G	-	1	0	CHD5	6089090	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	2.951000	0.49089	2.408000	0.81797	0.491000	0.48974	GGA		0.657	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		6	36	0	0	0	1	0	6	36				
WIPF1	7456	broad.mit.edu	37	2	175440090	175440090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175440090G>A	ENST00000392547.2	-	4	299	c.200C>T	c.(199-201)gCt>gTt	p.A67V	WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	67	Gly-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						accgcctccagcaccaGCTCC	0.597																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(199-201)gCt>gTt		WAS/WASL interacting protein family, member 1							87.0	100.0	95.0					2																	175440090		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175440090G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.200C>T	2.37:g.175440090G>A	ENSP00000376330:p.Ala67Val					WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V|AC010894.5_ENST00000454203.1_RNA	p.A67V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			4	299	-			67			Gly-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.200C>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901958	0.33535	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;2.3;1.57;1.57	4.36	1.47	0.22746	.	1.527220	0.04604	N	0.399003	T	0.75466	0.3853	L	0.40543	1.245	0.27310	N	0.957345	B;B;B;B	0.24186	0.069;0.099;0.069;0.049	B;B;B;B	0.21917	0.037;0.016;0.037;0.016	T	0.62048	-0.6936	10	0.59425	D	0.04	.	10.3513	0.43937	0.0855:0.5787:0.3358:0.0	.	67;67;67;67	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	V	67;67;67;67;67;67;67;64;67;67	ENSP00000376330:A67V;ENSP00000272746:A67V;ENSP00000352802:A67V;ENSP00000376329:A67V;ENSP00000386431:A67V;ENSP00000387150:A67V;ENSP00000391785:A64V;ENSP00000386757:A67V;ENSP00000388454:A67V	ENSP00000272746:A67V	A	-	2	0	WIPF1	175148336	0.872000	0.30054	0.190000	0.23270	0.109000	0.19521	0.978000	0.29488	0.183000	0.20059	0.462000	0.41574	GCT		0.597	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		22	1065	0	0	0	1	0	22	1065				
PCDHB3	56132	broad.mit.edu	37	5	140482389	140482389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140482389C>T	ENST00000231130.2	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	719					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.667																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2155-2157)gCg>gTg									37.0	42.0	40.0					5																	140482389		2112	4096	6208	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482389C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2156C>T	5.37:g.140482389C>T	ENSP00000231130:p.Ala719Val						p.A719V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2156	+			719					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2156C>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771873	0.69992	.	.	ENSG00000113205	ENST00000231130	T	0.17528	2.27	4.16	1.83	0.25207	.	.	.	.	.	T	0.31606	0.0802	M	0.87038	2.855	0.23346	N	0.997868	D	0.55800	0.973	P	0.49477	0.612	T	0.15607	-1.0431	9	0.72032	D	0.01	.	8.4355	0.32784	0.2265:0.6309:0.1425:0.0	.	719	Q9Y5E6	PCDB3_HUMAN	V	719	ENSP00000231130:A719V	ENSP00000231130:A719V	A	+	2	0	PCDHB3	140462573	0.614000	0.27017	0.089000	0.20774	0.145000	0.21501	1.032000	0.30178	0.826000	0.34661	0.485000	0.47835	GCG		0.667	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		190	921	0	0	0	1	0	190	921				
MTCL1	23255	broad.mit.edu	37	18	8783729	8783729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8783729C>T	ENST00000306329.11	+	5	1699	c.1699C>T	c.(1699-1701)Ctg>Ttg	p.L567L	SOGA2_ENST00000400050.3_Silent_p.L207L|SOGA2_ENST00000517570.1_Silent_p.L207L|SOGA2_ENST00000359865.3_Silent_p.L207L|SOGA2_ENST00000306285.7_5'UTR																							GGAGGCCGAGCTGAAGCTGCG	0.642																																						ENST00000359865.3																			0											c.(619-621)Ctg>Ttg		SOGA family member 2							13.0	14.0	14.0					18																	8783729		2195	4294	6489	SO:0001819	synonymous_variant	23255							g.chr18:8783729C>T																												ENST00000306329.11:c.1699C>T	18.37:g.8783729C>T						SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.L207L|SOGA2_ENST00000517570.1_Silent_p.L207L|SOGA2_ENST00000306329.11_Silent_p.L567L	p.L207L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	761	+			558						Silent	SNP	ENST00000306329.11	37	c.619C>T																																																																																					0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			18	94	0	0	0	1	0	18	94				
C2orf44	80304	broad.mit.edu	37	2	24261218	24261218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24261218C>A	ENST00000295148.4	-	2	1204	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	C2orf44_ENST00000406895.3_Nonsense_Mutation_p.E383*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	383									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGTGTTCTCTAATCGAATT	0.373			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(1147-1149)Gag>Tag		chromosome 2 open reading frame 44							82.0	87.0	85.0					2																	24261218		2203	4300	6503	SO:0001587	stop_gained	80304						protein binding	g.chr2:24261218C>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1147G>T	2.37:g.24261218C>A	ENSP00000295148:p.Glu383*					C2orf44_ENST00000406895.3_Nonsense_Mutation_p.E383*	p.E383*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	1204	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		383					D6W532|Q8IYK0|Q9HBP5	Nonsense_Mutation	SNP	ENST00000295148.4	37	c.1147G>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728379	0.89390	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	.	.	.	5.38	5.38	0.77491	.	0.101360	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.6847	19.5062	0.95116	0.0:1.0:0.0:0.0	.	.	.	.	X	383	.	ENSP00000295148:E383X	E	-	1	0	C2orf44	24114722	1.000000	0.71417	0.882000	0.34594	0.688000	0.40055	4.782000	0.62396	2.701000	0.92244	0.655000	0.94253	GAG		0.373	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		126	574	1	0	1.75222e-57	1	2.19469e-57	126	574				
TARDBP	23435	broad.mit.edu	37	1	11082189	11082189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11082189G>A	ENST00000240185.3	+	6	837	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TARDBP_ENST00000315091.3_Silent_p.Q241Q|TARDBP_ENST00000439080.2_Silent_p.Q125Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	241	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGATTGCGCAGTCTCTTTGTG	0.333																																						ENST00000240185.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11						c.(721-723)caG>caA		TAR DNA binding protein							81.0	79.0	80.0					1																	11082189		2203	4300	6503	SO:0001819	synonymous_variant	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082189G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.723G>A	1.37:g.11082189G>A						TARDBP_ENST00000439080.2_Silent_p.Q125Q|TARDBP_ENST00000315091.3_Silent_p.Q241Q	p.Q241Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	837	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	241			RRM 2.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Silent	SNP	ENST00000240185.3	37	c.723G>A	CCDS122.1																																																																																				0.333	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		34	306	0	0	0	1	0	34	306				
SCN10A	6336	broad.mit.edu	37	3	38798295	38798295	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38798295T>C	ENST00000449082.2	-	9	1159	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	387					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTTGACCAGGTAGAAAGATCC	0.453																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1159-1161)tAc>tGc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						138.0	136.0	137.0					3																	38798295		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798295T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1160A>G	3.37:g.38798295T>C	ENSP00000390600:p.Tyr387Cys						p.Y387C	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	9	1159	-			387					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1160A>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232065	0.79688	.	.	ENSG00000185313	ENST00000449082	D	0.98649	-5.05	5.21	5.21	0.72293	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95365	3.66	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	D	0.98563	1.0642	10	0.87932	D	0	.	15.5441	0.76081	0.0:0.0:0.0:1.0	.	387	Q9Y5Y9	SCNAA_HUMAN	C	387	ENSP00000390600:Y387C	ENSP00000390600:Y387C	Y	-	2	0	SCN10A	38773299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.317000	0.78254	0.459000	0.35465	TAC		0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		13	736	0	0	0	1	0	13	736				
FILIP1	27145	broad.mit.edu	37	6	76022961	76022961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022961G>A	ENST00000237172.7	-	5	2917	c.2587C>T	c.(2587-2589)Ctc>Ttc	p.L863F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F|FILIP1_ENST00000393004.2_Missense_Mutation_p.L863F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	863										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCATAGTGAGCTCATTTGCT	0.473																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2587-2589)Ctc>Ttc		filamin A interacting protein 1							94.0	101.0	99.0					6																	76022961		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022961G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2587C>T	6.37:g.76022961G>A	ENSP00000237172:p.Leu863Phe					FILIP1_ENST00000237172.7_Missense_Mutation_p.L863F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F	p.L863F			Q7Z7B0	FLIP1_HUMAN			5	2808	-			863					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2587C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160255	0.09287	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20598	2.06;2.06;2.07	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.50333	1.59	0.47621	D	0.999475	D;B;B	0.56035	0.974;0.058;0.095	P;B;B	0.53450	0.726;0.036;0.078	T	0.01235	-1.1410	10	0.41790	T	0.15	-11.3231	12.5159	0.56032	0.0:0.1275:0.7399:0.1326	.	863;863;863	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	863;863;764	ENSP00000376728:L863F;ENSP00000237172:L863F;ENSP00000359037:L764F	ENSP00000237172:L863F	L	-	1	0	FILIP1	76079681	0.997000	0.39634	0.991000	0.47740	0.995000	0.86356	2.561000	0.45905	1.459000	0.47892	0.563000	0.77884	CTC		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		119	554	0	0	0	1	0	119	554				
PNCK	139728	broad.mit.edu	37	X	152937358	152937358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152937358C>T	ENST00000370150.1	-	5	569	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R|PNCK_ENST00000393831.2_Missense_Mutation_p.G131R|PNCK_ENST00000340888.3_Missense_Mutation_p.G131R			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCACGATCCCCAGGCTGTGC	0.662																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(391-393)Ggg>Agg		pregnancy up-regulated nonubiquitous CaM kinase							25.0	24.0	25.0					X																	152937358		2202	4296	6498	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937358C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.391G>A	X.37:g.152937358C>T	ENSP00000359169:p.Gly131Arg					PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370150.1_Missense_Mutation_p.G131R|PNCK_ENST00000340888.3_Missense_Mutation_p.G131R	p.G131R	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			5	825	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		131			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.391G>A		.	.	.	.	.	.	.	.	.	.	c	23.7	4.445474	0.84101	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101495	0.40554	N	0.001067	T	0.50735	0.1633	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.989;0.989;0.989	T	0.53251	-0.8465	10	0.72032	D	0.01	-29.6904	16.1385	0.81506	0.0:1.0:0.0:0.0	.	158;214;148;131	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	R	131;131;131;131;148;214;131;131	ENSP00000340586:G131R;ENSP00000359169:G131R;ENSP00000377417:G131R;ENSP00000359161:G131R;ENSP00000359164:G148R;ENSP00000405950:G214R;ENSP00000415770:G131R;ENSP00000391772:G131R	ENSP00000340586:G131R	G	-	1	0	PNCK	152590552	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.744000	0.85034	2.060000	0.61445	0.529000	0.55759	GGG		0.662	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		24	97	0	0	0	1	0	24	97				
MITD1	129531	broad.mit.edu	37	2	99786049	99786049	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99786049C>A	ENST00000289359.2	-	6	694	c.618G>T	c.(616-618)aaG>aaT	p.K206N	MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	206	Important for association with membranes.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						CCCTTCCAATCTTAATCATCC	0.289																																						ENST00000289359.2																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(616-618)aaG>aaT		MIT, microtubule interacting and transport, domain containing 1							67.0	70.0	69.0					2																	99786049		2203	4292	6495	SO:0001583	missense	129531				protein transport	late endosome membrane		g.chr2:99786049C>A	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.618G>T	2.37:g.99786049C>A	ENSP00000289359:p.Lys206Asn					MRPL30_ENST00000410042.1_Intron	p.K206N	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN			6	694	-			206					Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	c.618G>T	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852900	0.71719	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T	0.53640	0.61;0.64	5.64	2.41	0.29592	.	0.188632	0.53938	D	0.000050	T	0.68458	0.3003	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.68157	-0.5483	10	0.54805	T	0.06	-6.5332	8.9691	0.35894	0.0:0.7264:0.0:0.2736	.	206	Q8WV92	MITD1_HUMAN	N	188;206;177	ENSP00000289359:K206N;ENSP00000387316:K177N	ENSP00000289359:K206N	K	-	3	2	MITD1	99152481	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.449000	0.21744	0.297000	0.22615	0.650000	0.86243	AAG		0.289	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		99	330	1	0	2.26856e-23	1	2.57851e-23	99	330				
CENPL	91687	broad.mit.edu	37	1	173772420	173772420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173772420G>A	ENST00000345664.6	-	4	857	c.644C>T	c.(643-645)gCa>gTa	p.A215V	CENPL_ENST00000367710.3_Missense_Mutation_p.A215V|CENPL_ENST00000356198.2_Missense_Mutation_p.A261V	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	215					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGATTAAATGCATTGATTGC	0.413																																						ENST00000356198.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(781-783)gCa>gTa		centromere protein L							113.0	119.0	117.0					1																	173772420		2203	4300	6503	SO:0001583	missense	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173772420G>A	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.644C>T	1.37:g.173772420G>A	ENSP00000323543:p.Ala215Val					CENPL_ENST00000367710.3_Missense_Mutation_p.A215V|CENPL_ENST00000345664.6_Missense_Mutation_p.A215V	p.A261V	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN			6	1067	-			215					Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	37	c.782C>T	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856235	0.71834	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.48522	1.42;0.81;0.81	5.03	4.12	0.48240	.	0.193605	0.45867	D	0.000323	T	0.38532	0.1044	L	0.36672	1.1	0.31499	N	0.665073	D;B	0.60575	0.988;0.004	P;B	0.58721	0.844;0.012	T	0.31475	-0.9942	10	0.45353	T	0.12	.	12.5652	0.56306	0.082:0.0:0.918:0.0	.	261;215	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	V	261;215;215	ENSP00000348527:A261V;ENSP00000323543:A215V;ENSP00000356683:A215V	ENSP00000323543:A215V	A	-	2	0	CENPL	172039043	1.000000	0.71417	0.826000	0.32828	0.989000	0.77384	6.614000	0.74197	1.124000	0.41980	0.655000	0.94253	GCA		0.413	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		93	527	0	0	0	1	0	93	527				
PLCB3	5331	broad.mit.edu	37	11	64022436	64022436	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64022436A>G	ENST00000540288.1	+	4	416	c.313A>G	c.(313-315)Acg>Gcg	p.T105A	PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A|PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	105					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAAGCTGATGACGGTGGTGTC	0.612																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(313-315)Acg>Gcg		phospholipase C, beta 3 (phosphatidylinositol-specific)							67.0	63.0	64.0					11																	64022436		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64022436A>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.313A>G	11.37:g.64022436A>G	ENSP00000443631:p.Thr105Ala					PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A|PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A	p.T105A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			4	416	+			105					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.313A>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	a	15.77	2.930752	0.52866	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.52983	0.64;0.64;0.64	4.67	4.67	0.58626	.	0.053649	0.64402	D	0.000001	T	0.70780	0.3263	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.97	T	0.76680	-0.2870	10	0.87932	D	0	.	13.4244	0.61018	1.0:0.0:0.0:0.0	.	38;105	G5E960;Q01970	.;PLCB3_HUMAN	A	105;105;38	ENSP00000279230:T105A;ENSP00000443631:T105A;ENSP00000324660:T38A	ENSP00000279230:T105A	T	+	1	0	PLCB3	63779012	1.000000	0.71417	0.974000	0.42286	0.100000	0.18952	8.999000	0.93557	1.885000	0.54596	0.454000	0.30748	ACG		0.612	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			32	161	0	0	0	1	0	32	161				
POLR1B	84172	broad.mit.edu	37	2	113309541	113309541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113309541T>C	ENST00000263331.5	+	6	1532	c.952T>C	c.(952-954)Tac>Cac	p.Y318H	POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	318					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGACTGGTACCCAAATGA	0.438																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(952-954)Tac>Cac		polymerase (RNA) I polypeptide B, 128kDa							140.0	134.0	136.0					2																	113309541		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113309541T>C	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.952T>C	2.37:g.113309541T>C	ENSP00000263331:p.Tyr318His					POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H|POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H	p.Y318H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			6	1532	+			318					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.952T>C	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065246	0.55432	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.03	5.03	0.67393	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.178498	0.51477	D	0.000095	T	0.75583	0.3869	M	0.74258	2.255	0.51482	D	0.999925	P;D;B;P	0.76494	0.51;0.999;0.058;0.566	B;D;B;B	0.72982	0.149;0.979;0.086;0.315	T	0.72981	-0.4126	10	0.16420	T	0.52	-10.5154	14.0384	0.64660	0.0:0.0:0.0:1.0	.	356;318;262;318	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	H	318;356;318;107;262	ENSP00000263331:Y318H;ENSP00000444136:Y356H;ENSP00000387143:Y318H;ENSP00000437914:Y107H;ENSP00000405358:Y262H	ENSP00000263331:Y318H	Y	+	1	0	POLR1B	113026012	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	6.223000	0.72257	2.025000	0.59659	0.482000	0.46254	TAC		0.438	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		110	332	0	0	0	1	0	110	332				
CORO2B	10391	broad.mit.edu	37	15	68937536	68937536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68937536G>A	ENST00000566799.1	+	2	82	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	CORO2B_ENST00000543950.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	18					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.R18Q(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAAGTTCCGGAATGTCTAC	0.612																																						ENST00000543950.1																			1	Substitution - Missense(1)	p.R18Q(1)	large_intestine(1)	kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(37-39)cGg>cAg		coronin, actin binding protein, 2B							87.0	73.0	77.0					15																	68937536		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:68937536G>A	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.53G>A	15.37:g.68937536G>A	ENSP00000454783:p.Arg18Gln					CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q|CORO2B_ENST00000566799.1_Missense_Mutation_p.R18Q	p.R13Q	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			2	392	+			18					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.38G>A	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	34	5.338139	0.95758	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.71817	-0.6;-0.6	4.38	4.38	0.52667	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.91793	0.5445	10	0.87932	D	0	-17.718	15.8812	0.79207	0.0:0.0:1.0:0.0	.	18	Q9UQ03	COR2B_HUMAN	Q	18;13;13	ENSP00000446250:R13Q;ENSP00000443819:R13Q	ENSP00000261861:R18Q	R	+	2	0	CORO2B	66724590	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.540000	0.98080	2.142000	0.66516	0.563000	0.77884	CGG		0.612	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		42	169	0	0	0	1	0	42	169				
KEL	3792	broad.mit.edu	37	7	142651023	142651023	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142651023G>A	ENST00000355265.2	-	9	1419	c.945C>T	c.(943-945)gaC>gaT	p.D315D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	315					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGACAACCAGTCGATGGCGG	0.522																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(943-945)gaC>gaT		Kell blood group, metallo-endopeptidase							100.0	95.0	97.0					7																	142651023		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651023G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.945C>T	7.37:g.142651023G>A						KEL_ENST00000479768.2_5'UTR	p.D315D	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1419	-	Melanoma(164;0.059)		315					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.945C>T	CCDS34766.1																																																																																				0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		59	548	0	0	0	1	0	59	548				
GALNT2	2590	broad.mit.edu	37	1	230391082	230391082	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230391082C>A	ENST00000366672.4	+	11	1200	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	GALNT2_ENST00000543760.1_Silent_p.V338V|GALNT2_ENST00000541865.1_Missense_Mutation_p.L252I	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	376					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTGGCACTGTCTTTGCCCGGT	0.582																																						ENST00000541865.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(754-756)Ctt>Att		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							135.0	103.0	114.0					1																	230391082		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230391082C>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1128C>A	1.37:g.230391082C>A						GALNT2_ENST00000543760.1_Silent_p.V338V|GALNT2_ENST00000366672.4_Silent_p.V376V	p.L252I			Q10471	GALT2_HUMAN			9	940	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	0					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.754C>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	2.039	-0.420611	0.04734	.	.	ENSG00000143641	ENST00000541865	T	0.44482	0.92	4.97	1.93	0.25924	.	.	.	.	.	T	0.20861	0.0502	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07139	-1.0788	6	0.10902	T	0.67	.	0.7754	0.01031	0.3337:0.2675:0.2233:0.1756	.	.	.	.	I	252	ENSP00000444346:L252I	ENSP00000444346:L252I	L	+	1	0	GALNT2	228457705	0.984000	0.35163	1.000000	0.80357	0.959000	0.62525	0.146000	0.16180	0.514000	0.28300	-0.261000	0.10672	CTT		0.582	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		15	393	1	0	1.62849e-17	1	1.79894e-17	15	393				
SLC52A1	55065	broad.mit.edu	37	17	4936666	4936666	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4936666G>T	ENST00000424747.1	-	4	1736	c.1024C>A	c.(1024-1026)Ctg>Atg	p.L342M	SLC52A1_ENST00000512825.2_Intron|SLC52A1_ENST00000254853.5_Missense_Mutation_p.L342M	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	342					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										AGACCAACCAGCCCTGCCAGG	0.632																																						ENST00000424747.1																			0											c.(1024-1026)Ctg>Atg		solute carrier family 52 (riboflavin transporter), member 1							77.0	92.0	87.0					17																	4936666		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936666G>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1024C>A	17.37:g.4936666G>T	ENSP00000399979:p.Leu342Met					SLC52A1_ENST00000512825.2_Intron|SLC52A1_ENST00000254853.5_Missense_Mutation_p.L342M	p.L342M	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN			4	1736	-			342					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.1024C>A	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967437	0.53507	.	.	ENSG00000132517	ENST00000254853;ENST00000424747	T;T	0.75477	-0.94;-0.94	0.913	0.913	0.19354	.	0.166040	0.40222	N	0.001143	T	0.77631	0.4159	L	0.55990	1.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.73263	-0.4038	10	0.39692	T	0.17	.	5.1534	0.15021	0.0:0.0:1.0:0.0	.	342	Q9NWF4	RFT_HUMAN	M	342	ENSP00000254853:L342M;ENSP00000399979:L342M	ENSP00000254853:L342M	L	-	1	2	GPR172B	4877390	0.447000	0.25673	0.743000	0.31040	0.584000	0.36387	0.394000	0.20834	0.784000	0.33661	0.655000	0.94253	CTG		0.632	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		90	424	1	0	4.65891e-64	1	5.88457e-64	90	424				
KRTAP11-1	337880	broad.mit.edu	37	21	32253481	32253481	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32253481G>A	ENST00000332378.4	-	1	393	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	121	4 X 10 AA approximate repeats.					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCACTGGTTGGCAGACACTGG	0.577																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(361-363)tgC>tgT		keratin associated protein 11-1							62.0	63.0	63.0					21																	32253481		2203	4300	6503	SO:0001819	synonymous_variant	0					keratin filament	structural molecule activity	g.chr21:32253481G>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.363C>T	21.37:g.32253481G>A							p.C121C	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	393	-			121			4 X 10 AA approximate repeats.		A1L4I8	Silent	SNP	ENST00000332378.4	37	c.363C>T	CCDS13608.1																																																																																				0.577	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			83	276	0	0	0	1	0	83	276				
LRRC7	57554	broad.mit.edu	37	1	70300475	70300475	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70300475C>A	ENST00000035383.5	+	4	429	c.399C>A	c.(397-399)ggC>ggA	p.G133G	LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000310961.5_Silent_p.G138G|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	133						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TACCTGATGGCTTCACACAGC	0.348																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(412-414)ggC>ggA		leucine rich repeat containing 7							153.0	142.0	146.0					1																	70300475		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70300475C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.399C>A	1.37:g.70300475C>A						LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000035383.5_Silent_p.G133G|LRRC7_ENST00000415775.2_5'UTR	p.G138G			Q96NW7	LRRC7_HUMAN			7	832	+			133					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.414C>A	CCDS645.1																																																																																				0.348	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		43	393	1	0	2.13384e-23	1	2.42615e-23	43	393				
HSD17B6	8630	broad.mit.edu	37	12	57167744	57167744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57167744C>T	ENST00000554643.1	+	3	457	c.108C>T	c.(106-108)ggC>ggT	p.G36G	HSD17B6_ENST00000554150.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G|HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000555159.1_Silent_p.G36G			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	36					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TTATCACGGGCTGTGACTCGG	0.607																																						ENST00000554643.1																			0				endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(106-108)ggC>ggT		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)						59.0	59.0	59.0					12																	57167744		2203	4300	6503	SO:0001819	synonymous_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57167744C>T	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.108C>T	12.37:g.57167744C>T						HSD17B6_ENST00000554150.1_Silent_p.G36G|HSD17B6_ENST00000555159.1_Silent_p.G36G|HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G	p.G36G			O14756	H17B6_HUMAN			3	457	+			36					O43275	Silent	SNP	ENST00000554643.1	37	c.108C>T	CCDS8925.1																																																																																				0.607	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		14	372	0	0	0	1	0	14	372				
CYP4F2	8529	broad.mit.edu	37	19	15990414	15990414	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990414C>A	ENST00000221700.6	-	11	1409	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCCCCGCACCTCAGGGTCCG	0.562																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.e11+1		cytochrome P450, family 4, subfamily F, polypeptide 2							90.0	100.0	96.0					19																	15990414		2203	4300	6503	SO:0001630	splice_region_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990414C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1314+1G>T	19.37:g.15990414C>A						CYP4F2_ENST00000592328.1_Splice_Site_p.E438_splice	p.E438_splice	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			11	1409	-			438						Splice_Site	SNP	ENST00000221700.6	37	c.1314_splice	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	9.571	1.120908	0.20877	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72835	-0.69	2.78	2.78	0.32641	.	0.306318	0.25801	U	0.028219	T	0.66470	0.2792	L	0.49256	1.55	0.80722	D	1	B	0.26902	0.163	B	0.37451	0.25	T	0.62277	-0.6888	9	.	.	.	.	11.279	0.49184	0.0:1.0:0.0:0.0	.	438	P78329	CP4F2_HUMAN	D	438;289	ENSP00000221700:E438D	.	E	-	3	2	CYP4F2	15851414	1.000000	0.71417	0.991000	0.47740	0.241000	0.25554	1.513000	0.35823	1.528000	0.49103	0.491000	0.48974	GAG		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	Missense_Mutation	107	616	1	0	3.10586e-51	1	3.85317e-51	107	616				
CYFIP2	26999	broad.mit.edu	37	5	156746871	156746871	+	Silent	SNP	C	C	T	rs563909737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746871C>T	ENST00000521420.1	+	13	1471	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	CYFIP2_ENST00000347377.6_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F|CYFIP2_ENST00000541131.1_Silent_p.F411F|CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000377576.3_Silent_p.F486F					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCAGGACTTCGCCCAGGTGA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		23881	0.001		0.0	False		,,,				2504	0.0					ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1456-1458)ttC>ttT		cytoplasmic FMR1 interacting protein 2							144.0	148.0	147.0					5																	156746871		2203	4300	6503	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746871C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1380C>T	5.37:g.156746871C>T						CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000377576.3_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000521420.1_Silent_p.F460F|CYFIP2_ENST00000541131.1_Silent_p.F411F	p.F486F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1889	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	486						Silent	SNP	ENST00000521420.1	37	c.1458C>T																																																																																					0.572	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		122	611	0	0	0	1	0	122	611				
ASAP2	8853	broad.mit.edu	37	2	9541430	9541430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9541430G>A	ENST00000281419.3	+	27	3191	c.2851G>A	c.(2851-2853)Gcg>Acg	p.A951T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	951	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCGGGTGAAAGCGCTCTATAA	0.592																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2851-2853)Gcg>Acg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							112.0	105.0	107.0					2																	9541430		2202	4298	6500	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9541430G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2851G>A	2.37:g.9541430G>A	ENSP00000281419:p.Ala951Thr					ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	p.A951T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			27	3191	+			951			SH3.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.2851G>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387495	0.61956	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.69685	-0.42;-0.42	5.66	5.66	0.87406	Src homology-3 domain (4);	0.049976	0.85682	D	0.000000	D	0.85177	0.5637	M	0.90019	3.08	0.58432	D	0.999999	D;B	0.71674	0.998;0.008	D;B	0.81914	0.995;0.106	D	0.84036	0.0362	10	0.30078	T	0.28	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	906;951	O43150-2;O43150	.;ASAP2_HUMAN	T	951;906	ENSP00000281419:A951T;ENSP00000316404:A906T	ENSP00000281419:A951T	A	+	1	0	ASAP2	9458881	1.000000	0.71417	0.979000	0.43373	0.730000	0.41778	9.452000	0.97615	2.669000	0.90835	0.655000	0.94253	GCG		0.592	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		61	352	0	0	0	1	0	61	352				
FAM73B	84895	broad.mit.edu	37	9	131830525	131830525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131830525G>A	ENST00000358369.4	+	13	1544	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	440					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CATCCTCATGGACGCCTTCGA	0.642																																						ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1318-1320)Gac>Aac		family with sequence similarity 73, member B							121.0	102.0	108.0					9																	131830525		2203	4300	6503	SO:0001583	missense	84895					integral to membrane		g.chr9:131830525G>A	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1318G>A	9.37:g.131830525G>A	ENSP00000351138:p.Asp440Asn					FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	p.D440N	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			13	1544	+			440					Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	c.1318G>A	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588139	0.96590	.	.	ENSG00000148343	ENST00000358369	T	0.52295	0.67	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79193	-0.1904	10	0.87932	D	0	-33.4835	17.967	0.89102	0.0:0.0:1.0:0.0	.	504;440	B4DZP8;Q7L4E1	.;FA73B_HUMAN	N	440	ENSP00000351138:D440N	ENSP00000351138:D440N	D	+	1	0	FAM73B	130870346	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.203000	0.95033	2.491000	0.84063	0.561000	0.74099	GAC		0.642	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		60	331	0	0	0	1	0	60	331				
GREB1	9687	broad.mit.edu	37	2	11756779	11756779	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11756779C>T	ENST00000381486.2	+	21	3645	c.3345C>T	c.(3343-3345)agC>agT	p.S1115S	GREB1_ENST00000234142.5_Silent_p.S1115S|GREB1_ENST00000396123.1_Silent_p.S113S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1115	Ser-rich.					integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAAGAGAAGCCCCATGAAAA	0.547																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(3343-3345)agC>agT		growth regulation by estrogen in breast cancer 1							202.0	223.0	216.0					2																	11756779		2028	4195	6223	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11756779C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3345C>T	2.37:g.11756779C>T						GREB1_ENST00000234142.5_Silent_p.S1115S|GREB1_ENST00000396123.1_Silent_p.S113S	p.S1115S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	21	3645	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1115			Ser-rich.		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.3345C>T	CCDS42655.1																																																																																				0.547	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		156	1134	0	0	0	1	0	156	1134				
ZNF180	7733	broad.mit.edu	37	19	44982351	44982351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44982351G>A	ENST00000221327.4	-	5	628	c.347C>T	c.(346-348)gCa>gTa	p.A116V	ZNF180_ENST00000587047.1_3'UTR|ZNF180_ENST00000586637.1_Silent_p.C125C|ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	116	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTTCCAACTGCAGTTGCCAA	0.323																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(346-348)gCa>gTa		zinc finger protein 180							43.0	45.0	44.0					19																	44982351		2201	4298	6499	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44982351G>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.347C>T	19.37:g.44982351G>A	ENSP00000221327:p.Ala116Val					ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000587047.1_3'UTR|ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V|ZNF180_ENST00000586637.1_Silent_p.C125C	p.A116V	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	628	-		Prostate(69;0.0435)	116			KRAB.		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.347C>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	0.365	-0.937103	0.02340	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00776	5.71;5.71	5.16	-1.2	0.09554	Krueppel-associated box (3);	0.363501	0.20122	N	0.098791	T	0.00468	0.0015	N	0.16266	0.395	0.09310	N	1	B;B;B	0.12630	0.006;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.47446	-0.9117	10	0.25106	T	0.35	-1.1964	1.0527	0.01583	0.2778:0.154:0.4105:0.1578	.	91;115;116	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	V	116;91	ENSP00000221327:A116V;ENSP00000375818:A91V	ENSP00000221327:A116V	A	-	2	0	ZNF180	49674191	0.001000	0.12720	0.017000	0.16124	0.043000	0.13939	0.420000	0.21263	0.037000	0.15575	0.655000	0.94253	GCA		0.323	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		44	202	0	0	0	1	0	44	202				
MAPK8	5599	broad.mit.edu	37	10	49612896	49612896	+	Splice_Site	SNP	G	G	A	rs200350498		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49612896G>A	ENST00000374189.1	+	3	305	c.124G>A	c.(124-126)Gca>Aca	p.A42T	MAPK8_ENST00000395611.3_Splice_Site_p.A42T|MAPK8_ENST00000374182.3_Splice_Site_p.A42T|MAPK8_ENST00000374174.1_Splice_Site_p.A42T|MAPK8_ENST00000360332.3_Splice_Site_p.A42T			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTATTACAGCGCAGCTTATGA	0.373																																						ENST00000374189.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34						c.e3-1		mitogen-activated protein kinase 8							65.0	68.0	67.0					10																	49612896		2203	4300	6503	SO:0001630	splice_region_variant	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49612896G>A	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.123-1G>A	10.37:g.49612896G>A						MAPK8_ENST00000374174.1_Splice_Site_p.A42_splice|MAPK8_ENST00000374182.3_Splice_Site_p.A42_splice|MAPK8_ENST00000360332.3_Splice_Site_p.A42_splice|MAPK8_ENST00000395611.3_Splice_Site_p.A42_splice	p.A42_splice			P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	3	305	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	42			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Splice_Site	SNP	ENST00000374189.1	37	c.122_splice	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622515	0.87460	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056698	0.64402	D	0.000001	D	0.88833	0.6544	L	0.48260	1.515	0.80722	D	1	P;D;D;D;D	0.76494	0.951;0.999;0.995;0.999;0.999	P;D;D;D;D	0.68621	0.717;0.932;0.932;0.959;0.932	D	0.88888	0.3344	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	42;42;42;42;42	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	T	42	ENSP00000387936:A42T;ENSP00000363304:A42T;ENSP00000397729:A42T;ENSP00000363297:A42T;ENSP00000363294:A42T;ENSP00000353483:A42T;ENSP00000363291:A42T;ENSP00000363289:A42T;ENSP00000378974:A42T	ENSP00000353483:A42T	A	+	1	0	MAPK8	49282902	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.724000	0.74747	2.937000	0.99478	0.650000	0.86243	GCA		0.373	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1		Missense_Mutation	44	257	0	0	0	1	0	44	257				
DNAJC13	23317	broad.mit.edu	37	3	132169692	132169692	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132169692G>A	ENST00000260818.6	+	6	785		c.e6+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGTAGATTGGTAAGTACTAT	0.303																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.e6+1		DnaJ (Hsp40) homolog, subfamily C, member 13							36.0	41.0	39.0					3																	132169692		2202	4291	6493	SO:0001630	splice_region_variant	23317						heat shock protein binding	g.chr3:132169692G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.537+1G>A	3.37:g.132169692G>A						DNAJC13_ENST00000486798.1_Splice_Site		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			6	785	+								Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	37		CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540277	0.85917	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133652382	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.593000	0.98250	2.734000	0.93682	0.655000	0.94253	.		0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	Intron	54	229	0	0	0	1	0	54	229				
BRD4	23476	broad.mit.edu	37	19	15383882	15383882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15383882C>A	ENST00000263377.2	-	2	250	c.29G>T	c.(28-30)aGa>aTa	p.R10I	BRD4_ENST00000371835.4_Missense_Mutation_p.R10I|BRD4_ENST00000360016.5_Missense_Mutation_p.R10I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	10					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATTTCTCAATCTCGTCCCAGG	0.552			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(28-30)aGa>aTa		bromodomain containing 4							95.0	96.0	96.0					19																	15383882		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15383882C>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.29G>T	19.37:g.15383882C>A	ENSP00000263377:p.Arg10Ile					BRD4_ENST00000360016.5_Missense_Mutation_p.R10I|BRD4_ENST00000371835.4_Missense_Mutation_p.R10I	p.R10I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		2	250	-			10					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.29G>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587167	0.86851	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.50813	0.73;2.65;2.48	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.61739	0.2371	L	0.58101	1.795	0.80722	D	1	D;P;D	0.59767	0.986;0.886;0.982	P;P;P	0.56278	0.731;0.475;0.795	T	0.64394	-0.6418	10	0.87932	D	0	-17.1711	18.2814	0.90099	0.0:1.0:0.0:0.0	.	10;10;10	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	I	10	ENSP00000263377:R10I;ENSP00000360901:R10I;ENSP00000353112:R10I	ENSP00000263377:R10I	R	-	2	0	BRD4	15244882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.649000	0.61433	2.627000	0.88993	0.561000	0.74099	AGA		0.552	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		75	612	1	0	2.25582e-47	1	2.77644e-47	75	612				
GRIN2D	2906	broad.mit.edu	37	19	48945465	48945465	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945465C>T	ENST00000263269.3	+	12	2587	c.2499C>T	c.(2497-2499)atC>atT	p.I833I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	833					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGACAAAATCGAGGTGATGA	0.582																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2497-2499)atC>atT		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						157.0	151.0	153.0					19																	48945465		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945465C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2499C>T	19.37:g.48945465C>T							p.I833I	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	2587	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	833						Silent	SNP	ENST00000263269.3	37	c.2499C>T	CCDS12719.1																																																																																				0.582	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			197	814	0	0	0	1	0	197	814				
RPL28	6158	broad.mit.edu	37	19	55899621	55899621	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55899621G>A	ENST00000344063.2	+	5	964	c.335G>A	c.(334-336)cGc>cAc	p.R112H	RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000560583.1_3'UTR|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000560055.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28	112					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCAGCCATCCGCAGGGCCAGC	0.667																																						ENST00000344063.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(334-336)cGc>cAc		ribosomal protein L28							12.0	16.0	15.0					19																	55899621		2190	4275	6465	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899621G>A	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.335G>A	19.37:g.55899621G>A	ENSP00000342787:p.Arg112His					RPL28_ENST00000560583.1_3'UTR|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000560055.1_Intron	p.R112H			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	5	964	+	Breast(117;0.191)	Renal(1328;0.245)	112					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.335G>A	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577856	0.65878	.	.	ENSG00000108107	ENST00000344063	T	0.46819	0.86	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.74467	2.265	0.80722	D	1	B	0.25235	0.121	B	0.25405	0.06	T	0.56535	-0.7963	10	0.56958	D	0.05	.	13.1887	0.59697	0.0:0.0:1.0:0.0	.	112	P46779	RL28_HUMAN	H	112	ENSP00000342787:R112H	ENSP00000342787:R112H	R	+	2	0	RPL28	60591433	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.890000	0.92477	1.864000	0.54056	0.462000	0.41574	CGC		0.667	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		11	48	0	0	0	1	0	11	48				
ZNF512B	57473	broad.mit.edu	37	20	62594982	62594982	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62594982G>A	ENST00000450537.1	-	10	1747	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y|ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGCACTGTGCTCGGCCATA	0.622																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(1687-1689)Cac>Tac		zinc finger protein 512B							101.0	94.0	96.0					20																	62594982		2202	4300	6502	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62594982G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1687C>T	20.37:g.62594982G>A	ENSP00000393795:p.His563Tyr					ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y|ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y	p.H563Y			Q96KM6	Z512B_HUMAN			10	1747	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		563					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1687C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709041	0.68615	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.37915	1.17;1.17;1.17	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.134765	0.49305	D	0.000155	T	0.56247	0.1972	M	0.62723	1.935	0.49051	D	0.999748	D	0.71674	0.998	D	0.83275	0.996	T	0.60692	-0.7213	10	0.87932	D	0	-15.5574	13.504	0.61474	0.0:0.1574:0.8426:0.0	.	563	Q96KM6	Z512B_HUMAN	Y	563	ENSP00000358904:H563Y;ENSP00000393795:H563Y;ENSP00000217130:H563Y	ENSP00000217130:H563Y	H	-	1	0	ZNF512B	62065426	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.971000	0.63749	2.004000	0.58718	0.411000	0.27672	CAC		0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		28	379	0	0	0	1	0	28	379				
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19168365C>T	ENST00000535612.1	+	9	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_ENST00000269932.6_Silent_p.A453A|ARMC6_ENST00000392335.2_Silent_p.A453A|ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000392336.3_Silent_p.A478A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1432-1434)gcC>gcT		armadillo repeat containing 6							58.0	57.0	57.0					19																	19168365		2203	4299	6502	SO:0001819	synonymous_variant	93436						protein binding	g.chr19:19168365C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1434C>T	19.37:g.19168365C>T						ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A|ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000269932.6_Silent_p.A453A	p.A478A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		9	1866	+			478					B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	37	c.1434C>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.354|3.354	-0.131862|-0.131862	0.06753|0.06753	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000379532|ENST00000535478;ENST00000540634	.|.	.|.	.|.	4.09|4.09	1.73|1.73	0.24493|0.24493	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42732|0.42732	-0.9434|-0.9434	5|4	0.46703|.	T|.	0.11|.	-19.4935|-19.4935	6.1867|6.1867	0.20502|0.20502	0.4011:0.5041:0.0:0.0947|0.4011:0.5041:0.0:0.0947	.|.	.|.	.|.	.|.	L|S	388|122;58	.|.	ENSP00000368847:P388L|.	P|P	+|+	2|1	0|0	ARMC6|ARMC6	19029365|19029365	0.080000|0.080000	0.21391|0.21391	0.981000|0.981000	0.43875|0.43875	0.223000|0.223000	0.24884|0.24884	-0.182000|-0.182000	0.09726|0.09726	0.337000|0.337000	0.23665|0.23665	0.555000|0.555000	0.69702|0.69702	CCC|CCT		0.672	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		77	315	0	0	0	1	0	77	315				
CST7	8530	broad.mit.edu	37	20	24940294	24940294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24940294C>T	ENST00000480798.1	+	4	660	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CST7_ENST00000376835.2_Silent_p.V150V	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	128					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						ACTCTGAAGTCTGGGTCGTGC	0.597																																						ENST00000480798.1																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(382-384)gtC>gtT		cystatin F (leukocystatin)							122.0	113.0	116.0					20																	24940294		2203	4300	6503	SO:0001819	synonymous_variant	8530				immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:24940294C>T	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.384C>T	20.37:g.24940294C>T						CST7_ENST00000376835.2_Silent_p.V150V	p.V128V	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN			4	660	+			128					Q6FH95|Q7Z4J8|Q9UED4	Silent	SNP	ENST00000480798.1	37	c.384C>T	CCDS13165.2																																																																																				0.597	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		82	394	0	0	0	1	0	82	394				
PLPPR1	54886	broad.mit.edu	37	9	104071653	104071653	+	Missense_Mutation	SNP	T	T	G	rs139319180	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104071653T>G	ENST00000374874.3	+	5	985	c.546T>G	c.(544-546)tgT>tgG	p.C182W	LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		182					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										GGAACATTTGTACTGGGGACC	0.507																																						ENST00000374874.3																			0											c.(544-546)tgT>tgG									91.0	86.0	88.0					9																	104071653		2203	4300	6503	SO:0001583	missense	0					integral to membrane	catalytic activity	g.chr9:104071653T>G																												ENST00000374874.3:c.546T>G	9.37:g.104071653T>G	ENSP00000364008:p.Cys182Trp					LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	p.C182W	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			5	985	+			182					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.546T>G	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765742	0.69878	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.76968	-1.06;-1.06	5.32	-8.08	0.01094	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90317	0.6971	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90954	0.4807	10	0.87932	D	0	-6.3471	21.8754	0.99962	0.0:0.8477:0.0:0.1523	.	166;182	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	W	182	ENSP00000364008:C182W;ENSP00000378496:C182W	ENSP00000364005:C182W	C	+	3	2	RP11-35N6.1	103111474	0.934000	0.31675	0.180000	0.23079	0.970000	0.65996	0.094000	0.15107	-1.516000	0.01782	-0.353000	0.07706	TGT		0.507	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			58	356	0	0	0	1	0	58	356				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657481	72657481	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72657481G>A	ENST00000425256.1	-	0	2430									GTF2I repeat domain containing 2 pseudogene 1																		ggtacttgtagaattctggta	0.502																																						ENST00000425256.1																			0																																																			0							g.chr7:72657481G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657481G>A								NR_002164.1						0	2430	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.502	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		125	475	0	0	0	1	0	125	475				
MAST2	23139	broad.mit.edu	37	1	46497062	46497062	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46497062G>T	ENST00000361297.2	+	24	3275		c.e24-1		MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGGCCTACAGCTATGGAGAC	0.657																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.e24-1		microtubule associated serine/threonine kinase 2							34.0	39.0	37.0					1																	46497062		2045	4178	6223	SO:0001630	splice_region_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46497062G>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2993-1G>T	1.37:g.46497062G>T						MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Splice_Site		NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			24	3275	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)								Splice_Site	SNP	ENST00000361297.2	37		CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977123	0.53720	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0003	0.80288	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAST2	46269649	0.998000	0.40836	1.000000	0.80357	0.914000	0.54420	5.075000	0.64407	2.626000	0.88956	0.655000	0.94253	.		0.657	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	Intron	63	169	1	0	8.81991e-31	1	1.03612e-30	63	169				
ERN1	2081	broad.mit.edu	37	17	62125340	62125340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62125340C>T	ENST00000433197.3	-	19	2502	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGTGCAATGACGTCTTCTATA	0.438																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2407-2409)Gtc>Atc		endoplasmic reticulum to nucleus signaling 1							62.0	61.0	61.0					17																	62125340		1948	4144	6092	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62125340C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2407G>A	17.37:g.62125340C>T	ENSP00000401445:p.Val803Ile						p.V803I	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			19	2502	-			803			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2407G>A	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623276	0.28889	.	.	ENSG00000178607	ENST00000433197	T	0.64803	-0.12	5.23	2.68	0.31781	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148489	0.49916	N	0.000123	T	0.40979	0.1139	N	0.21194	0.64	0.39713	D	0.971359	B	0.06786	0.001	B	0.11329	0.006	T	0.13388	-1.0511	10	0.15952	T	0.53	-25.2307	6.8144	0.23822	0.0:0.5913:0.0:0.4087	.	803	O75460	ERN1_HUMAN	I	803	ENSP00000401445:V803I	ENSP00000401445:V803I	V	-	1	0	ERN1	59479072	1.000000	0.71417	0.956000	0.39512	0.802000	0.45316	0.870000	0.28010	0.657000	0.30906	0.491000	0.48974	GTC		0.438	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		26	110	0	0	0	1	0	26	110				
KCNH5	27133	broad.mit.edu	37	14	63175128	63175128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63175128G>A	ENST00000322893.7	-	11	2333	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	689					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGCCGGAGGCGCTCCTCCTCC	0.498																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2065-2067)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 5							83.0	88.0	86.0					14																	63175128		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175128G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2065C>T	14.37:g.63175128G>A	ENSP00000321427:p.Arg689Cys					KCNH5_ENST00000420622.2_3'UTR	p.R689C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2333	-			689					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2065C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172220	0.57584	.	.	ENSG00000140015	ENST00000322893	T	0.18502	2.21	5.72	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.58101	1.795	0.80722	D	1	D	0.64830	0.994	P	0.51657	0.676	T	0.01162	-1.1432	10	0.52906	T	0.07	.	11.0615	0.47950	0.0667:0.0:0.8045:0.1289	.	689	Q8NCM2	KCNH5_HUMAN	C	689	ENSP00000321427:R689C	ENSP00000321427:R689C	R	-	1	0	KCNH5	62244881	1.000000	0.71417	0.791000	0.31998	0.983000	0.72400	4.606000	0.61126	0.763000	0.33175	0.655000	0.94253	CGC		0.498	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		119	430	0	0	0	1	0	119	430				
KIF1B	23095	broad.mit.edu	37	1	10412734	10412734	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10412734C>T	ENST00000377086.1	+	38	4197	c.3995C>T	c.(3994-3996)gCc>gTc	p.A1332V	KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V			O60333	KIF1B_HUMAN	kinesin family member 1B	1332					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGTTGATGCCATCCTCTCC	0.438																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3994-3996)gCc>gTc		kinesin family member 1B							190.0	186.0	187.0					1																	10412734		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10412734C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3995C>T	1.37:g.10412734C>T	ENSP00000366290:p.Ala1332Val					KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V|KIF1B_ENST00000465635.1_3'UTR	p.A1332V			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	38	4197	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1332					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3995C>T		.	.	.	.	.	.	.	.	.	.	C	23.4	4.414574	0.83449	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72505	-0.59;-0.66;-0.66	5.76	5.76	0.90799	.	0.053671	0.64402	D	0.000001	T	0.69287	0.3094	N	0.16656	0.425	0.58432	D	0.999998	B;P;P;P;B;P	0.46327	0.018;0.728;0.873;0.876;0.101;0.621	B;B;P;P;B;B	0.54026	0.032;0.245;0.585;0.74;0.096;0.404	T	0.65240	-0.6216	10	0.23302	T	0.38	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1318;1292;1332;1306;1332;1286	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1332;1286;1332;1332	ENSP00000263934:A1286V;ENSP00000366290:A1332V;ENSP00000366284:A1332V	ENSP00000263934:A1286V	A	+	2	0	KIF1B	10335321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.784000	0.68990	2.713000	0.92767	0.655000	0.94253	GCC		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			74	318	0	0	0	1	0	74	318				
NUDT18	79873	broad.mit.edu	37	8	21965776	21965776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21965776C>A	ENST00000309188.6	-	4	362	c.244G>T	c.(244-246)Gag>Tag	p.E82*	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Nonsense_Mutation_p.E5*	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	82	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACGATGGTCTCCCCTGGCTCC	0.672																																						ENST00000309188.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(244-246)Gag>Tag		nudix (nucleoside diphosphate linked moiety X)-type motif 18							30.0	38.0	35.0					8																	21965776		2131	4217	6348	SO:0001587	stop_gained	79873						hydrolase activity|metal ion binding|protein binding	g.chr8:21965776C>A		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.244G>T	8.37:g.21965776C>A	ENSP00000307852:p.Glu82*					NUDT18_ENST00000522405.1_Nonsense_Mutation_p.E5*|NUDT18_ENST00000521807.2_3'UTR	p.E82*	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN		Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)	4	362	-			82			Nudix hydrolase.		Q8IZ75|Q9H687	Nonsense_Mutation	SNP	ENST00000309188.6	37	c.244G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.090209|6.090209	0.97271|0.97271	.|.	.|.	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|T	.|0.13307	.|2.6	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.32704	.|0.0838	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33317	.|-0.9873	.|5	0.87932|0.87932	D|D	0|0	0.0307|0.0307	16.0045|16.0045	0.80349|0.80349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	5;82|117	.|ENSP00000430117:G117V	ENSP00000307852:E82X|ENSP00000430117:G117V	E|G	-|-	1|2	0|0	NUDT18|NUDT18	22021721|22021721	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.958000|0.958000	0.62258|0.62258	4.586000|4.586000	0.60984|0.60984	2.387000|2.387000	0.81309|0.81309	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.672	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		5	32	1	0	0.0215528	1	0.0216335	5	32				
USP7	7874	broad.mit.edu	37	16	8995939	8995939	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8995939G>A	ENST00000344836.4	-	18	2245	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	USP7_ENST00000381886.4_Splice_Site_p.H667Y|USP7_ENST00000535863.1_Splice_Site_p.H584Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	683	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGGCACTTACGATCTTTATCA	0.483																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.e18+1		ubiquitin specific peptidase 7 (herpes virus-associated)							121.0	106.0	111.0					16																	8995939		2197	4300	6497	SO:0001630	splice_region_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8995939G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2047+1C>T	16.37:g.8995939G>A						USP7_ENST00000381886.4_Splice_Site_p.H667_splice|USP7_ENST00000535863.1_Splice_Site_p.H584_splice	p.H683_splice	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			18	2245	-			683			Interaction with ICP0/VMW110.		A6NMY8|B7Z815|H0Y3G8	Splice_Site	SNP	ENST00000344836.4	37	c.2047_splice	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001818	0.74932	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06768	3.26;3.27	5.42	5.42	0.78866	.	0.043956	0.85682	D	0.000000	T	0.05090	0.0136	N	0.22421	0.69	0.80722	D	1	P;P	0.46142	0.873;0.873	B;B	0.19148	0.024;0.024	T	0.50668	-0.8801	9	.	.	.	.	19.2247	0.93814	0.0:0.0:1.0:0.0	.	683;667	Q93009;B7Z815	UBP7_HUMAN;.	Y	683;691;584;584	ENSP00000343535:H683Y;ENSP00000443646:H584Y	.	H	-	1	0	USP7	8903440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.549000	0.85964	0.561000	0.74099	CAT		0.483	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		Missense_Mutation	24	510	0	0	0	1	0	24	510				
TRIM37	4591	broad.mit.edu	37	17	57165749	57165749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57165749C>T	ENST00000262294.7	-	4	443	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K|TRIM37_ENST00000376149.3_5'UTR	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	62					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTACTAGTTCTCGTAGCTGG	0.363									Mulibrey Nanism																													ENST00000262294.7																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(184-186)Gaa>Aaa		tripartite motif containing 37							130.0	107.0	115.0					17																	57165749		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57165749C>T	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.184G>A	17.37:g.57165749C>T	ENSP00000262294:p.Glu62Lys					TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K	p.E62K	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN			4	443	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		62					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.184G>A	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426551	0.96131	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000393065	T;T;T	0.17213	2.29;2.29;2.29	5.2	5.2	0.72013	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.29908	0.895	0.80722	D	1	D;B	0.64830	0.994;0.128	P;B	0.62184	0.899;0.073	T	0.02226	-1.1192	10	0.54805	T	0.06	-16.9086	18.3457	0.90321	0.0:1.0:0.0:0.0	.	28;62	F8WEE6;O94972	.;TRI37_HUMAN	K	62;62;28	ENSP00000376785:E62K;ENSP00000262294:E62K;ENSP00000376784:E28K	ENSP00000262294:E62K	E	-	1	0	TRIM37	54520531	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.647000	0.83462	2.445000	0.82738	0.650000	0.86243	GAA		0.363	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		16	177	0	0	0	1	0	16	177				
PLCG2	5336	broad.mit.edu	37	16	81939093	81939093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81939093T>C	ENST00000359376.3	+	15	1662	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	483					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAGCTGTACATGTGGGATTCC	0.587																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1447-1449)aTg>aCg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							67.0	73.0	71.0					16																	81939093		2050	4192	6242	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81939093T>C		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1448T>C	16.37:g.81939093T>C	ENSP00000352336:p.Met483Thr						p.M483T	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			15	1662	+			483					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1448T>C	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703665	0.48412	.	.	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	5.18	5.18	0.71444	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);	0.043429	0.85682	D	0.000000	T	0.54224	0.1845	L	0.40543	1.245	0.80722	D	1	B;P	0.48764	0.017;0.915	B;B	0.33750	0.008;0.169	T	0.63594	-0.6602	10	0.72032	D	0.01	.	15.0501	0.71862	0.0:0.0:0.0:1.0	.	350;483	B4E3H3;P16885	.;PLCG2_HUMAN	T	483	ENSP00000352336:M483T	ENSP00000352336:M483T	M	+	2	0	PLCG2	80496594	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.010000	0.64004	1.964000	0.57103	0.445000	0.29226	ATG		0.587	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			56	131	0	0	0	1	0	56	131				
JAK2	3717	broad.mit.edu	37	9	5073726	5073726	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5073726G>T	ENST00000381652.3	+	14	2299	c.1805G>T	c.(1804-1806)aGc>aTc	p.S602I	JAK2_ENST00000544510.1_Missense_Mutation_p.S453I|JAK2_ENST00000539801.1_Missense_Mutation_p.S602I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	602	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGTATGATGAGCAAGCTTTCT	0.353		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1804-1806)aGc>aTc		Janus kinase 2							111.0	124.0	119.0					9																	5073726		2203	4299	6502	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5073726G>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1805G>T	9.37:g.5073726G>T	ENSP00000371067:p.Ser602Ile					JAK2_ENST00000544510.1_Missense_Mutation_p.S453I|JAK2_ENST00000539801.1_Missense_Mutation_p.S602I	p.S602I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	14	2299	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	602			Protein kinase 1.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1805G>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350840	0.82132	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83419	-1.72;-1.72;-1.72	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.038094	0.85682	D	0.000000	D	0.92453	0.7604	M	0.89163	3.01	0.80722	D	1	D	0.63880	0.993	D	0.65773	0.938	D	0.93483	0.6829	10	0.87932	D	0	-13.7575	19.4075	0.94653	0.0:0.0:1.0:0.0	.	602	O60674	JAK2_HUMAN	I	602;602;453	ENSP00000440387:S602I;ENSP00000371067:S602I;ENSP00000443103:S453I	ENSP00000371067:S602I	S	+	2	0	JAK2	5063726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.442000	0.80503	2.583000	0.87209	0.591000	0.81541	AGC		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			94	644	1	0	1.66795e-42	1	2.03135e-42	94	644				
IGSF9B	22997	broad.mit.edu	37	11	133795814	133795814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133795814C>T	ENST00000321016.8	-	14	2084	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	IGSF9B_ENST00000533871.2_Silent_p.P618P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	618	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGAGGCACCTCGGTGGGGTGA	0.617																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1852-1854)ccG>ccA		immunoglobulin superfamily, member 9B							36.0	41.0	39.0					11																	133795814		2047	4203	6250	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133795814C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1854G>A	11.37:g.133795814C>T						IGSF9B_ENST00000533871.2_Silent_p.P618P	p.P618P			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	14	2084	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	618			Fibronectin type-III 2.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.1854G>A																																																																																					0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		13	79	0	0	0	1	0	13	79				
ZNF749	388567	broad.mit.edu	37	19	57956765	57956765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956765C>A	ENST00000334181.4	+	3	2499	c.2249C>A	c.(2248-2250)tCt>tAt	p.S750Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	750					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGAGAAAGGTCTTATGAGTGT	0.398																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2248-2250)tCt>tAt		zinc finger protein 749							104.0	109.0	107.0					19																	57956765		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956765C>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2249C>A	19.37:g.57956765C>A	ENSP00000333980:p.Ser750Tyr					AC004076.9_ENST00000596831.1_Intron	p.S750Y	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2499	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	750						Missense_Mutation	SNP	ENST00000334181.4	37	c.2249C>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	-	6.715	0.500702	0.12822	.	.	ENSG00000186230	ENST00000334181	T	0.01647	4.71	1.59	-0.791	0.10929	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	L	0.55103	1.725	0.09310	N	0.999996	B	0.23540	0.087	B	0.14578	0.011	T	0.39482	-0.9612	9	0.87932	D	0	.	5.8944	0.18931	0.0:0.55:0.0:0.45	.	750	O43361	ZN749_HUMAN	Y	750	ENSP00000333980:S750Y	ENSP00000333980:S750Y	S	+	2	0	ZNF749	62648577	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.050000	0.14120	-0.160000	0.11002	-0.657000	0.03884	TCT		0.398	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		83	405	1	0	2.43516e-34	1	2.89639e-34	83	405				
WDR16	146845	broad.mit.edu	37	17	9538792	9538792	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9538792T>C	ENST00000352665.5	+	11	1460	c.1391T>C	c.(1390-1392)gTg>gCg	p.V464A	WDR16_ENST00000299764.5_Missense_Mutation_p.V474A|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.V396A	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTCATCAGTGTCCTGCATT	0.537																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1390-1392)gTg>gCg		WD repeat domain 16							177.0	136.0	150.0					17																	9538792		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9538792T>C	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1391T>C	17.37:g.9538792T>C	ENSP00000339449:p.Val464Ala					WDR16_ENST00000396219.3_Missense_Mutation_p.V396A|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Missense_Mutation_p.V474A	p.V464A	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			11	1460	+			464						Missense_Mutation	SNP	ENST00000352665.5	37	c.1391T>C	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740766	0.69304	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.73789	-0.78;-0.78;-0.78	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057202	0.64402	D	0.000002	D	0.89128	0.6627	H	0.94698	3.57	0.58432	D	0.999992	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.71656	0.93;0.93;0.974	D	0.91646	0.5331	10	0.59425	D	0.04	-19.7206	13.8542	0.63515	0.0:0.0:0.0:1.0	.	474;396;464	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	A	464;396;474	ENSP00000339449:V464A;ENSP00000379521:V396A;ENSP00000299764:V474A	ENSP00000299764:V474A	V	+	2	0	WDR16	9479517	1.000000	0.71417	0.995000	0.50966	0.252000	0.25951	7.492000	0.81482	1.907000	0.55213	0.533000	0.62120	GTG		0.537	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		63	252	0	0	0	1	0	63	252				
CCDC141	285025	broad.mit.edu	37	2	179701780	179701780	+	Missense_Mutation	SNP	C	C	T	rs368802405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701780C>T	ENST00000420890.2	-	23	4283	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1389										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATCTCTTCTCGAGGAACCAT	0.498																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(4165-4167)cGa>cAa		coiled-coil domain containing 141							53.0	55.0	54.0					2																	179701780		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179701780C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4166G>A	2.37:g.179701780C>T	ENSP00000395995:p.Arg1389Gln					CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q	p.R1389Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	4283	-			814					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.4166G>A		.	.	.	.	.	.	.	.	.	.	C	7.640	0.680651	0.14907	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.46063	0.88;1.54;1.54	6.17	-12.3	0.00002	.	1.416120	0.04518	N	0.384078	T	0.18759	0.0450	N	0.13235	0.315	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.002	T	0.29579	-1.0007	10	0.02654	T	1	5.3443	13.1713	0.59599	0.0:0.6227:0.1503:0.227	.	814;814	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	Q	1389;833;814	ENSP00000395995:R1389Q;ENSP00000344627:R833Q;ENSP00000295723:R814Q	ENSP00000295723:R814Q	R	-	2	0	CCDC141	179410025	0.001000	0.12720	0.001000	0.08648	0.189000	0.23516	-2.550000	0.00929	-2.824000	0.00342	-0.982000	0.02568	CGA		0.498	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		56	166	0	0	0	1	0	56	166				
TENM2	57451	broad.mit.edu	37	5	167674992	167674992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167674992C>A	ENST00000518659.1	+	27	7087	c.7048C>A	c.(7048-7050)Ctc>Atc	p.L2350I	TENM2_ENST00000545108.1_Missense_Mutation_p.L2349I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2174I|TENM2_ENST00000519204.1_Missense_Mutation_p.L2229I|TENM2_ENST00000520394.1_Missense_Mutation_p.L2111I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2350					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)										GTACTACGACCTCCAGGGCCA	0.547																																						ENST00000519204.1																			0											c.(6685-6687)Ctc>Atc		teneurin transmembrane protein 2							104.0	109.0	107.0					5																	167674992		2057	4213	6270	SO:0001583	missense	57451							g.chr5:167674992C>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.7048C>A	5.37:g.167674992C>A	ENSP00000429430:p.Leu2350Ile					TENM2_ENST00000545108.1_Missense_Mutation_p.L2349I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2174I|TENM2_ENST00000520394.1_Missense_Mutation_p.L2111I|TENM2_ENST00000518659.1_Missense_Mutation_p.L2350I	p.L2229I							26	6803	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6685C>A		.	.	.	.	.	.	.	.	.	.	c	17.42	3.384351	0.61845	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90069	-2.13;-2.12;-2.23;-2.58;-2.61	5.43	4.53	0.55603	.	0.059631	0.64402	D	0.000002	D	0.93184	0.7829	M	0.81341	2.54	0.38619	D	0.951103	D;D;D	0.64830	0.994;0.989;0.99	P;P;D	0.72982	0.901;0.744;0.979	D	0.92691	0.6166	10	0.38643	T	0.18	.	9.3598	0.38188	0.0:0.7789:0.1459:0.0752	.	2349;2350;2111	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	2350;2349;2229;2111;2174	ENSP00000429430:L2350I;ENSP00000438635:L2349I;ENSP00000428964:L2229I;ENSP00000427874:L2111I;ENSP00000384905:L2174I	ENSP00000384905:L2174I	L	+	1	0	ODZ2	167607570	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.728000	0.47319	1.227000	0.43598	0.556000	0.70494	CTC		0.547	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		89	370	1	0	5.02048e-33	1	5.94302e-33	89	370				
TTN	7273	broad.mit.edu	37	2	179433938	179433938	+	Missense_Mutation	SNP	G	G	A	rs549745098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433938G>A	ENST00000591111.1	-	276	72222	c.71998C>T	c.(71998-72000)Cgt>Tgt	p.R24000C	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25641C|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24000	Fibronectin type-III 74. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTGGCTTCACGTTTCTCAACA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21273	0.001		0.0	False		,,,				2504	0.0					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.(76921-76923)Cgt>Tgt		titin							207.0	209.0	209.0					2																	179433938		1860	4086	5946	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433938G>A	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.71998C>T	2.37:g.179433938G>A	ENSP00000465570:p.Arg24000Cys					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24000C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.R25641C	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)		326	77145	-			24000			Ig-like 125.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.76921C>T		.	.	.	.	.	.	.	.	.	.	G	12.60	1.986746	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.83	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78097	0.4230	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73380	0.98;0.98;0.98;0.98	T	0.82444	-0.0454	9	0.87932	D	0	.	16.8246	0.85927	0.0:0.1288:0.8712:0.0	.	16576;16701;16768;24000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	23073;16576;16768;16701;16574	ENSP00000343764:R23073C;ENSP00000434586:R16576C;ENSP00000340554:R16768C;ENSP00000352154:R16701C	ENSP00000340554:R16768C	R	-	1	0	TTN	179142184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.720000	0.74723	1.415000	0.47037	0.650000	0.86243	CGT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		328	957	0	0	0	1	0	328	957				
CHD8	57680	broad.mit.edu	37	14	21863231	21863231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21863231C>T	ENST00000557364.1	-	30	5493	c.5230G>A	c.(5230-5232)Gcc>Acc	p.A1744T	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.A1744T			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1744					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGTTAGGGCAGAGCCCGGA	0.522																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(5230-5232)Gcc>Acc		chromodomain helicase DNA binding protein 8							37.0	36.0	36.0					14																	21863231		1916	4130	6046	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21863231C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5230G>A	14.37:g.21863231C>T	ENSP00000451601:p.Ala1744Thr					CHD8_ENST00000557364.1_Missense_Mutation_p.A1744T|CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T|CHD8_ENST00000555962.1_5'UTR	p.A1744T	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	29	5294	-	all_cancers(95;0.00121)		1744					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.5230G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432580	0.62844	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.79554	-1.28;-1.28;-1.28	6.07	6.07	0.98685	.	0.059716	0.64402	D	0.000002	T	0.76716	0.4026	L	0.39020	1.185	0.50467	D	0.99987	B	0.32128	0.357	B	0.36186	0.219	T	0.71224	-0.4656	10	0.25751	T	0.34	-17.1232	19.4308	0.94765	0.0:1.0:0.0:0.0	.	1465	Q9HCK8-2	.	T	1465;1744;1464;1744	ENSP00000406288:A1465T;ENSP00000382863:A1744T;ENSP00000451601:A1744T	ENSP00000262707:A1464T	A	-	1	0	CHD8	20933071	0.762000	0.28451	1.000000	0.80357	0.995000	0.86356	1.501000	0.35693	2.885000	0.99019	0.655000	0.94253	GCC		0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		13	140	0	0	0	1	0	13	140				
ZIM2	23619	broad.mit.edu	37	19	57286249	57286249	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286249C>A	ENST00000391708.3	-	12	1933	c.1391G>T	c.(1390-1392)aGa>aTa	p.R464I	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R464I|ZIM2_ENST00000601070.1_Missense_Mutation_p.R464I|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R464I|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R464I	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	464					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTGGCAGGCTCTCTCTCCAAC	0.483																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1390-1392)aGa>aTa		zinc finger, imprinted 2							88.0	70.0	76.0					19																	57286249		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286249C>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1391G>T	19.37:g.57286249C>A	ENSP00000375589:p.Arg464Ile					AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R464I|ZIM2_ENST00000593711.1_Missense_Mutation_p.R464I|ZIM2_ENST00000221722.5_Missense_Mutation_p.R464I|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R464I	p.R464I	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1933	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.1391G>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779564	0.31502	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05199	3.48;3.48	4.96	-1.15	0.09709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	M	0.65498	2.005	.	.	.	D	0.54397	0.966	P	0.52159	0.691	T	0.22906	-1.0203	8	0.87932	D	0	.	8.1076	0.30896	0.0:0.3778:0.0:0.6222	.	464	Q9NZV7	ZIM2_HUMAN	I	464	ENSP00000375589:R464I;ENSP00000221722:R464I	ENSP00000221722:R464I	R	-	2	0	ZIM2	61978061	0.005000	0.15991	0.020000	0.16555	0.387000	0.30353	-0.750000	0.04808	0.007000	0.14760	0.655000	0.94253	AGA		0.483	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			30	219	1	0	1.06801e-11	1	1.14091e-11	30	219				
GPR98	84059	broad.mit.edu	37	5	90144584	90144584	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90144584A>G	ENST00000405460.2	+	79	17246	c.17150A>G	c.(17149-17151)gAg>gGg	p.E5717G	GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5717					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAGTGACTGAGAATTTTGCC	0.383																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17149-17151)gAg>gGg		G protein-coupled receptor 98							106.0	99.0	101.0					5																	90144584		1835	4087	5922	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90144584A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17150A>G	5.37:g.90144584A>G	ENSP00000384582:p.Glu5717Gly					GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	p.E5717G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	79	17246	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5717					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17150A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	33	5.228007	0.95173	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.38887	1.11;1.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.62891	-0.6758	9	.	.	.	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1378;5717;1378	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	G	5717;5717;1378	ENSP00000384582:E5717G;ENSP00000392618:E1378G	.	E	+	2	0	GPR98	90180340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.602000	0.90868	2.279000	0.76181	0.533000	0.62120	GAG		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		21	205	0	0	0	1	0	21	205				
CCDC159	126075	broad.mit.edu	37	19	11465331	11465331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11465331C>T	ENST00000588790.1	+	12	1295	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F|DKFZP761J1410_ENST00000591608.1_5'Flank|DKFZP761J1410_ENST00000251473.5_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	398										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGGACCTCTCCCAGCCACCT	0.652																																						ENST00000588790.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(847-849)tCc>tTc		coiled-coil domain containing 159							32.0	40.0	38.0					19																	11465331		2192	4293	6485	SO:0001583	missense	126075							g.chr19:11465331C>T	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.848C>T	19.37:g.11465331C>T	ENSP00000468232:p.Ser283Phe					CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F	p.S283F			P0C7I6	CC159_HUMAN			12	1295	+			398					B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	c.848C>T	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758685	0.49468	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.53206	0.63	3.1	-0.664	0.11406	.	.	.	.	.	T	0.44746	0.1308	L	0.44542	1.39	0.09310	N	1	D;B	0.58620	0.983;0.002	P;B	0.53649	0.731;0.003	T	0.33904	-0.9850	9	0.72032	D	0.01	.	3.0227	0.06080	0.0:0.4741:0.237:0.2889	.	398;283	P0C7I6;P0C7I6-2	CC159_HUMAN;.	F	283;398	ENSP00000402239:S283F	ENSP00000390400:S398F	S	+	2	0	CCDC159	11326331	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-0.499000	0.06413	0.182000	0.20032	-0.339000	0.08088	TCC		0.652	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		11	64	0	0	0	1	0	11	64				
XPO4	64328	broad.mit.edu	37	13	21383304	21383304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383304G>A	ENST00000255305.6	-	11	1482	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.R471*			Q9C0E2	XPO4_HUMAN	exportin 4	471					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R444*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGTCTCGATCATCCTCT	0.428																																						ENST00000400602.2																			1	Substitution - Nonsense(1)	p.R444*(1)	large_intestine(1)	breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1411-1413)Cga>Tga		exportin 4							132.0	126.0	128.0					13																	21383304		1900	4121	6021	SO:0001587	stop_gained	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21383304G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1411C>T	13.37:g.21383304G>A	ENSP00000255305:p.Arg471*					XPO4_ENST00000255305.6_Nonsense_Mutation_p.R471*	p.R471*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	11	1446	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	471					Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	ENST00000255305.6	37	c.1411C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147225	0.97324	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-5.4271	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	471;341;471	.	ENSP00000255305:R471X	R	-	1	2	XPO4	20281304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.016000	0.49607	2.885000	0.99019	0.655000	0.94253	CGA		0.428	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		61	404	0	0	0	1	0	61	404				
UHRF1BP1	54887	broad.mit.edu	37	6	34827139	34827139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34827139G>A	ENST00000192788.5	+	14	3177	c.3006G>A	c.(3004-3006)gtG>gtA	p.V1002V	UHRF1BP1_ENST00000452449.2_Silent_p.V1002V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1002							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGACTGCTGTGAATGGACAGG	0.537																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3004-3006)gtG>gtA		UHRF1 binding protein 1							62.0	66.0	65.0					6																	34827139		2046	4177	6223	SO:0001819	synonymous_variant	54887							g.chr6:34827139G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3006G>A	6.37:g.34827139G>A						UHRF1BP1_ENST00000452449.2_Silent_p.V1002V	p.V1002V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	3177	+			1002					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.3006G>A	CCDS43455.1																																																																																				0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		12	356	0	0	0	1	0	12	356				
HIVEP2	3097	broad.mit.edu	37	6	143082630	143082630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143082630G>A	ENST00000367604.1	-	7	6230	c.5591C>T	c.(5590-5592)tCg>tTg	p.S1864L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1864L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATCATCCACCGATGTCATTGA	0.403																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5590-5592)tCg>tTg		human immunodeficiency virus type I enhancer binding protein 2							188.0	177.0	180.0					6																	143082630		1893	4120	6013	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143082630G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5591C>T	6.37:g.143082630G>A	ENSP00000356576:p.Ser1864Leu					HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1864L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L	p.S1864L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	8	6333	-			1864					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5591C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708935	0.89018	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02631	4.22;4.22;4.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	N	0.21373	0.66	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.54077	-0.8347	10	0.72032	D	0.01	-16.1067	19.7939	0.96471	0.0:0.0:1.0:0.0	.	1864	P31629	ZEP2_HUMAN	L	1864	ENSP00000356576:S1864L;ENSP00000356575:S1864L;ENSP00000012134:S1864L	ENSP00000012134:S1864L	S	-	2	0	HIVEP2	143124323	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.812000	0.75226	2.668000	0.90789	0.563000	0.77884	TCG		0.403	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			162	725	0	0	0	1	0	162	725				
CD151	977	broad.mit.edu	37	11	837331	837331	+	Missense_Mutation	SNP	G	G	A	rs560834839	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:837331G>A	ENST00000397420.3	+	6	682	c.433G>A	c.(433-435)Gct>Act	p.A145T	CD151_ENST00000528011.1_Missense_Mutation_p.A145T|CD151_ENST00000322008.4_Missense_Mutation_p.A145T|CD151_ENST00000397421.1_Missense_Mutation_p.A145T			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	145					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCAGCGCTGTGGACCA	0.667													G|||	3	0.000599042	0.0	0.0	5008	,	,		17789	0.0		0.0	False		,,,				2504	0.0031				Esophageal Squamous(14;501 559 15826 37823 38305)	ENST00000397420.3																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(433-435)Gct>Act		CD151 molecule (Raph blood group)							64.0	61.0	62.0					11																	837331		2201	4297	6498	SO:0001583	missense	977				cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding	g.chr11:837331G>A	AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.433G>A	11.37:g.837331G>A	ENSP00000380565:p.Ala145Thr					CD151_ENST00000397421.1_Missense_Mutation_p.A145T|CD151_ENST00000322008.4_Missense_Mutation_p.A145T|CD151_ENST00000528011.1_Missense_Mutation_p.A145T	p.A145T			P48509	CD151_HUMAN		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	682	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	145					A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	37	c.433G>A	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782579	0.70222	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000526693;ENST00000524748;ENST00000527341;ENST00000530320;ENST00000528011	T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	4.41	4.41	0.53225	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	D	0.86569	0.1846	10	0.51188	T	0.08	.	17.1864	0.86868	0.0:0.0:1.0:0.0	.	145	P48509	CD151_HUMAN	T	145;145;145;120;145;145;145;145;145	ENSP00000380565:A145T;ENSP00000324101:A145T;ENSP00000380566:A145T;ENSP00000432258:A120T;ENSP00000435054:A145T;ENSP00000431403:A145T;ENSP00000436591:A145T;ENSP00000433787:A145T;ENSP00000432990:A145T	ENSP00000324101:A145T	A	+	1	0	CD151	827331	1.000000	0.71417	0.314000	0.25224	0.027000	0.11550	7.288000	0.78691	2.290000	0.77057	0.561000	0.74099	GCT		0.667	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		66	259	0	0	0	1	0	66	259				
ZCCHC5	203430	broad.mit.edu	37	X	77913260	77913260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77913260C>T	ENST00000321110.1	-	2	953	c.658G>A	c.(658-660)Gca>Aca	p.A220T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	220							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGAAGCTGCTGATGTCTCC	0.522																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(658-660)Gca>Aca		zinc finger, CCHC domain containing 5							34.0	34.0	34.0					X																	77913260		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913260C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.658G>A	X.37:g.77913260C>T	ENSP00000316794:p.Ala220Thr						p.A220T	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	953	-			220					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.658G>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	5.120	0.207840	0.09704	.	.	ENSG00000179300	ENST00000321110	T	0.18338	2.22	3.03	1.04	0.20106	.	.	.	.	.	T	0.06508	0.0167	N	0.04508	-0.205	0.09310	N	1	B	0.20550	0.046	B	0.17979	0.02	T	0.43861	-0.9365	9	0.15066	T	0.55	.	6.2909	0.21059	0.0:0.6915:0.0:0.3085	.	220	Q8N8U3	ZCHC5_HUMAN	T	220	ENSP00000316794:A220T	ENSP00000316794:A220T	A	-	1	0	ZCCHC5	77799916	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	0.127000	0.18452	0.513000	0.50165	GCA		0.522	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		32	154	0	0	0	1	0	32	154				
COL12A1	1303	broad.mit.edu	37	6	75898987	75898987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75898987C>A	ENST00000322507.8	-	7	1078	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L|COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	257	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGAATTTCCACTTCATCCTGG	0.373																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(769-771)Gtg>Ttg		collagen, type XII, alpha 1							79.0	76.0	77.0					6																	75898987		1843	4091	5934	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898987C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.769G>T	6.37:g.75898987C>A	ENSP00000325146:p.Val257Leu					COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L|COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron	p.V257L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			7	1078	-			257			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.769G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839537	0.91117	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.77750	-1.12;-1.12;-1.12	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000007	D	0.85575	0.5728	M	0.62266	1.93	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	D	0.85774	0.1357	10	0.72032	D	0.01	.	20.0027	0.97425	0.0:1.0:0.0:0.0	.	257	Q99715	COCA1_HUMAN	L	257	ENSP00000325146:V257L;ENSP00000412864:V257L;ENSP00000421216:V257L	ENSP00000325146:V257L	V	-	1	0	COL12A1	75955707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GTG		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		46	195	1	0	1.48734e-19	1	1.65976e-19	46	195				
NRXN3	9369	broad.mit.edu	37	14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	rs140528152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79433613G>A	ENST00000554719.1	+	10	2212	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	166					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGTGACCGCCCCCTGAAT	0.423																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1720-1722)cGc>cAc		neurexin 3		G	HIS/ARG	0,4406		0,0,2203	102.0	87.0	92.0		1721	6.0	1.0	14	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	574/1062	79433613	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79433613G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1721G>A	14.37:g.79433613G>A	ENSP00000451648:p.Arg574His					NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	p.R574H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	10	2212	+		Renal(4;0.00876)	166					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1721G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288622	0.80914	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78126	-1.15;-1.15	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.233245	0.41938	D	0.000781	D	0.85639	0.5743	.	.	.	0.50813	D	0.999897	D;B	0.65815	0.995;0.137	P;B	0.55871	0.786;0.027	D	0.83950	0.0316	8	.	.	.	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	947;574	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	947;936;574;574	ENSP00000451648:R574H;ENSP00000338349:R574H	.	R	+	2	0	NRXN3	78503366	0.998000	0.40836	0.992000	0.48379	0.685000	0.39939	3.259000	0.51515	2.873000	0.98535	0.561000	0.74099	CGC		0.423	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		57	239	0	0	0	1	0	57	239				
USH2A	7399	broad.mit.edu	37	1	215960182	215960182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215960182G>A	ENST00000307340.3	-	52	10603	c.10217C>T	c.(10216-10218)tCt>tTt	p.S3406F	USH2A_ENST00000366943.2_Missense_Mutation_p.S3406F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3406	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTTCCATAGATGCTGGGCA	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10216-10218)tCt>tTt		Usher syndrome 2A (autosomal recessive, mild)							70.0	65.0	66.0					1																	215960182		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960182G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10217C>T	1.37:g.215960182G>A	ENSP00000305941:p.Ser3406Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S3406F	p.S3406F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10603	-			3406			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10217C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664031	0.47572	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.17854	2.26;2.25	4.88	3.97	0.46021	Fibronectin, type III (3);	0.508801	0.16482	N	0.212481	T	0.28632	0.0709	M	0.66939	2.045	0.09310	N	1	D	0.54397	0.966	P	0.50440	0.641	T	0.09079	-1.0691	10	0.87932	D	0	.	11.7406	0.51790	0.0823:0.0:0.9177:0.0	.	3406	O75445	USH2A_HUMAN	F	3406	ENSP00000305941:S3406F;ENSP00000355910:S3406F	ENSP00000305941:S3406F	S	-	2	0	USH2A	214026805	0.296000	0.24398	0.001000	0.08648	0.490000	0.33462	3.445000	0.52921	1.037000	0.40024	-0.126000	0.14955	TCT		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		43	219	0	0	0	1	0	43	219				
CCDC6	8030	broad.mit.edu	37	10	61554264	61554264	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61554264G>A	ENST00000263102.6	-	8	1428	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	399						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGTGCTGCACGTGAAGACCCG	0.478			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(1195-1197)caC>caT		coiled-coil domain containing 6							146.0	123.0	131.0					10																	61554264		2203	4300	6503	SO:0001819	synonymous_variant	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61554264G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1197C>T	10.37:g.61554264G>A							p.H399H	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	8	1428	-			399					Q15250|Q6GSG7	Silent	SNP	ENST00000263102.6	37	c.1197C>T	CCDS7257.1																																																																																				0.478	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		54	258	0	0	0	1	0	54	258				
LRP5L	91355	broad.mit.edu	37	22	25750768	25750768	+	Silent	SNP	G	G	A	rs555246803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25750768G>A	ENST00000402785.2	-	3	546	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_ENST00000444995.3_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	150					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V150V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCTCATCGACACTGATCG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20116	0.001		0.0	False		,,,				2504	0.0					ENST00000444995.3																			1	Substitution - coding silent(1)	p.V150V(1)	cervix(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(448-450)gtC>gtT		low density lipoprotein receptor-related protein 5-like							110.0	97.0	101.0					22																	25750768		2200	4300	6500	SO:0001819	synonymous_variant	91355							g.chr22:25750768G>A	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.450C>T	22.37:g.25750768G>A						LRP5L_ENST00000402785.2_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V	p.V150V			A4QPB2	LRP5L_HUMAN			6	1150	-			150					B0QYF3|B0QYF4|B2RPI5	Silent	SNP	ENST00000402785.2	37	c.450C>T	CCDS33626.1																																																																																				0.607	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		50	200	0	0	0	1	0	50	200				
TLE3	7090	broad.mit.edu	37	15	70358362	70358362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70358362C>T	ENST00000558939.1	-	7	1945	c.568G>A	c.(568-570)Gat>Aat	p.D190N	TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Missense_Mutation_p.D190N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	190	Gly/Pro-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCTGTGATCGAGTTCATGG	0.672																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(568-570)Gat>Aat		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							32.0	33.0	32.0					15																	70358362		1858	4087	5945	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70358362C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.568G>A	15.37:g.70358362C>T	ENSP00000452871:p.Asp190Asn					TLE3_ENST00000317509.8_Missense_Mutation_p.D190N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N	p.D190N			Q04726	TLE3_HUMAN			7	1945	-			190			Gly/Pro-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.568G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094663	0.56075	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.52526	0.84;0.92;0.98;0.91;0.66	5.56	5.56	0.83823	.	0.112013	0.64402	D	0.000012	T	0.47488	0.1448	L	0.52573	1.65	0.53005	D	0.999965	B;B;B;P;P;P;P;P	0.38195	0.024;0.149;0.028;0.488;0.605;0.488;0.622;0.6	B;B;B;B;B;B;B;B	0.38296	0.011;0.025;0.027;0.088;0.087;0.088;0.27;0.181	T	0.41378	-0.9512	10	0.37606	T	0.19	-21.5296	19.131	0.93406	0.0:1.0:0.0:0.0	.	183;190;190;190;190;190;195;134	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	N	190;190;190;183;134	ENSP00000390007:D190N;ENSP00000394717:D190N;ENSP00000319233:D190N;ENSP00000415057:D183N;ENSP00000442594:D134N	ENSP00000319233:D190N	D	-	1	0	TLE3	68145416	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	5.861000	0.69553	2.609000	0.88269	0.655000	0.94253	GAT		0.672	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		35	201	0	0	0	1	0	35	201				
PDK1	5163	broad.mit.edu	37	2	173457694	173457694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173457694G>A	ENST00000282077.3	+	10	1270	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	PDK1_ENST00000410055.1_Missense_Mutation_p.R363H|PDK1_ENST00000543905.1_Missense_Mutation_p.R287H|PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	363	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.			R -> C (in Ref. 2; ABB29979). {ECO:0000305}.	cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCCATATCACGTCTTTACGCA	0.383									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(1087-1089)cGt>cAt		pyruvate dehydrogenase kinase, isozyme 1							134.0	131.0	132.0					2																	173457694		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173457694G>A	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1088G>A	2.37:g.173457694G>A	ENSP00000282077:p.Arg363His					PDK1_ENST00000282077.2_Missense_Mutation_p.R363H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H|PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000543905.1_Missense_Mutation_p.R287H	p.R363H	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		10	1188	+			363			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.1088G>A	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740561	0.96873	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.8	5.8	0.92144	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.099648	0.64402	D	0.000001	T	0.79992	0.4542	H	0.94620	3.56	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.61477	0.889;0.874	D	0.85090	0.0951	10	0.87932	D	0	-3.439	20.1182	0.97944	0.0:0.0:1.0:0.0	.	363;383	Q15118;E9PD65	PDK1_HUMAN;.	H	287;208;363;383;363	ENSP00000438567:R287H;ENSP00000437502:R208H;ENSP00000282077:R363H;ENSP00000376352:R383H;ENSP00000386985:R363H	ENSP00000282077:R363H	R	+	2	0	PDK1	173165940	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.775000	0.98995	2.775000	0.95449	0.650000	0.86243	CGT		0.383	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		123	347	0	0	0	1	0	123	347				
ZNF852	285346	broad.mit.edu	37	3	44541647	44541647	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44541647T>C	ENST00000436261.1	-	4	782	c.622A>G	c.(622-624)Acc>Gcc	p.T208A	ZNF852_ENST00000489411.1_5'UTR			Q6ZMS4	ZN852_HUMAN	zinc finger protein 852	208						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|lung(5)	8						CCTGTGTGGGTTCTGAGATGA	0.493																																						ENST00000436261.1																			0				endometrium(2)|kidney(1)|lung(5)	8						c.(622-624)Acc>Gcc		zinc finger protein 852																																				SO:0001583	missense	285346				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:44541647T>C	BC014381		3p21.32	2013-01-08			ENSG00000178917	ENSG00000178917		"""Zinc fingers, C2H2-type"", ""-"""	27713	protein-coding gene	gene with protein product							Standard	NM_001287349		Approved		uc011azx.2	Q6ZMS4	OTTHUMG00000156453	ENST00000436261.1:c.622A>G	3.37:g.44541647T>C	ENSP00000389841:p.Thr208Ala					ZNF852_ENST00000489411.1_5'UTR	p.T208A			B6EU87	B6EU87_HUMAN			4	782	-			208					B4DLD7	Missense_Mutation	SNP	ENST00000436261.1	37	c.622A>G		.	.	.	.	.	.	.	.	.	.	T	12.35	1.911863	0.33721	.	.	ENSG00000178917	ENST00000436261;ENST00000313378	T	0.11930	2.73	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	.	.	.	0.22787	N	0.998738	B	0.06786	0.001	B	0.06405	0.002	T	0.18618	-1.0331	8	0.72032	D	0.01	.	6.1956	0.20548	0.0:0.1294:0.0:0.8706	.	174	Q6ZMS4	ZN852_HUMAN	A	208	ENSP00000389841:T208A	ENSP00000322569:T208A	T	-	1	0	ZNF852	44516651	0.000000	0.05858	0.989000	0.46669	0.970000	0.65996	0.653000	0.24902	1.503000	0.48686	0.254000	0.18369	ACC		0.493	ZNF852-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344244.1	XM_001717402		33	129	0	0	0	1	0	33	129				
PDHA1	5160	broad.mit.edu	37	X	19373539	19373539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19373539C>T	ENST00000422285.2	+	7	781	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	PDHA1_ENST00000379806.5_Missense_Mutation_p.R264C|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	226					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TGAGAATAATCGCTATGGAAT	0.458																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(790-792)Cgc>Tgc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						137.0	130.0	132.0					X																	19373539		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19373539C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.676C>T	X.37:g.19373539C>T	ENSP00000394382:p.Arg226Cys					PDHA1_ENST00000422285.2_Missense_Mutation_p.R226C|PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C	p.R264C	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			8	935	+	Hepatocellular(33;0.183)		226					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.790C>T	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337215	0.81911	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.76	4.9	0.64082	Dehydrogenase, E1 component (1);	0.095399	0.64402	D	0.000001	D	0.97173	0.9076	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	P;P;P;P;P	0.56398	0.773;0.797;0.759;0.762;0.759	D	0.96667	0.9493	10	0.62326	D	0.03	-23.0063	9.2392	0.37486	0.1438:0.7815:0.0:0.0748	.	195;233;226;264;226	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	C	264;233;195;226	ENSP00000369134:R264C;ENSP00000438550:R233C;ENSP00000440761:R195C;ENSP00000394382:R226C	ENSP00000369134:R264C	R	+	1	0	PDHA1	19283460	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.064000	0.41432	1.313000	0.45069	0.594000	0.82650	CGC		0.458	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			187	657	0	0	0	1	0	187	657				
OR5A1	219982	broad.mit.edu	37	11	59211369	59211369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211369C>T	ENST00000302030.2	+	1	753	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCTGCAACACGTGTGCCTCG	0.547																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(727-729)aCg>aTg		olfactory receptor, family 5, subfamily A, member 1							288.0	235.0	253.0					11																	59211369		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211369C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.728C>T	11.37:g.59211369C>T	ENSP00000303096:p.Thr243Met						p.T243M	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	753	+			243					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.728C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473797	0.43942	.	.	ENSG00000172320	ENST00000302030	T	0.42513	0.97	5.98	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.76314	0.3970	H	0.96662	3.86	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.85296	0.1070	10	0.87932	D	0	-29.9675	15.5041	0.75725	0.1393:0.8607:0.0:0.0	.	243	Q8NGJ0	OR5A1_HUMAN	M	243	ENSP00000303096:T243M	ENSP00000303096:T243M	T	+	2	0	OR5A1	58967945	1.000000	0.71417	0.160000	0.22671	0.002000	0.02628	4.858000	0.62947	1.532000	0.49169	0.650000	0.86243	ACG		0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		185	777	0	0	0	1	0	185	777				
STRN4	29888	broad.mit.edu	37	19	47228829	47228829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228829C>T	ENST00000263280.6	-	10	1374	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	STRN4_ENST00000391910.3_Missense_Mutation_p.R449H|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	442						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCCAGGGAACGAATGCCGTC	0.612																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1345-1347)cGt>cAt		striatin, calmodulin binding protein 4							84.0	84.0	84.0					19																	47228829		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228829C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1325G>A	19.37:g.47228829C>T	ENSP00000263280:p.Arg442His					STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.R442H|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H	p.R449H			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1796	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	442					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1346G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993046	0.93167	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.62105	0.05;0.05;0.05	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78339	-0.2242	10	0.59425	D	0.04	-23.8563	16.8978	0.86105	0.0:1.0:0.0:0.0	.	449;442	F8VYA6;Q9NRL3	.;STRN4_HUMAN	H	449;442;323	ENSP00000375777:R449H;ENSP00000263280:R442H;ENSP00000440901:R323H	ENSP00000263280:R442H	R	-	2	0	STRN4	51920669	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.774000	0.68906	2.290000	0.77057	0.561000	0.74099	CGT		0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			49	190	0	0	0	1	0	49	190				
KIAA1217	56243	broad.mit.edu	37	10	24783453	24783453	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24783453A>G	ENST00000376454.3	+	7	1734	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	568					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGGAGAAACAGATTGCCA	0.413																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1702-1704)aaA>aaG		KIAA1217							106.0	100.0	102.0					10																	24783453		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24783453A>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1704A>G	10.37:g.24783453A>G						KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron	p.K568K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			7	1734	+			568					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.1704A>G	CCDS31165.1																																																																																				0.413	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		55	252	0	0	0	1	0	55	252				
IQUB	154865	broad.mit.edu	37	7	123152119	123152119	+	Silent	SNP	C	C	T	rs371912901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123152119C>T	ENST00000466202.1	-	2	852	c.276G>A	c.(274-276)ccG>ccA	p.P92P	IQUB_ENST00000434450.1_Silent_p.P92P|IQUB_ENST00000324698.6_Silent_p.P92P|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	92					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CATGATGTTGCGGAGTATATG	0.388																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(274-276)ccG>ccA		IQ motif and ubiquitin domain containing		C		0,4406		0,0,2203	216.0	185.0	196.0		276	-0.1	0.0	7		196	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IQUB	NM_178827.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		92/792	123152119	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	154865							g.chr7:123152119C>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.276G>A	7.37:g.123152119C>T						IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.P92P|IQUB_ENST00000434450.1_Silent_p.P92P	p.P92P			Q8NA54	IQUB_HUMAN			2	852	-			92					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.276G>A	CCDS5787.1																																																																																				0.388	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		85	430	0	0	0	1	0	85	430				
C8orf33	65265	broad.mit.edu	37	8	146278525	146278525	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146278525G>A	ENST00000331434.6	+	3	510	c.396G>A	c.(394-396)ccG>ccA	p.P132P		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	132										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AACCCACCCCGAAACAGAGTA	0.577																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(394-396)ccG>ccA		chromosome 8 open reading frame 33							79.0	82.0	81.0					8																	146278525		2203	4300	6503	SO:0001819	synonymous_variant	65265							g.chr8:146278525G>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.396G>A	8.37:g.146278525G>A							p.P132P	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	3	510	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		132					A6NGC0|Q96BT8	Silent	SNP	ENST00000331434.6	37	c.396G>A	CCDS34974.1																																																																																				0.577	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		7	411	0	0	0	1	0	7	411				
IGKV3-11	28914	broad.mit.edu	37	2	89326879	89326879	+	RNA	SNP	G	G	A	rs532898545		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:89326879G>A	ENST00000483158.1	-	0	180									immunoglobulin kappa variable 3-11																		ACTCTGACTGGCCCTGCAGGA	0.532													N|||	1	0.000199681	0.0008	0.0	5008	,	,		11704	0.0		0.0	False		,,,				2504	0.0					ENST00000483158.1																			0																				86.0	76.0	79.0					2																	89326879		1873	4097	5970			0							g.chr2:89326879G>A	X01668		2p11.2	2012-02-08			ENSG00000241351	ENSG00000241351		"""Immunoglobulins / IGK locus"""	5815	other	immunoglobulin gene							Standard	NG_000834		Approved		uc021vkj.1		OTTHUMG00000151633		2.37:g.89326879G>A														0	180	-									RNA	SNP	ENST00000483158.1	37																																																																																						0.532	IGKV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323357.1	NG_000834		133	460	0	0	0	1	0	133	460				
DCP2	167227	broad.mit.edu	37	5	112321682	112321682	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112321682T>C	ENST00000389063.2	+	2	402	c.204T>C	c.(202-204)gcT>gcC	p.A68A	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Splice_Site_p.A68A	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	68					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTGCTAAAGCTGATATCCTTT	0.328																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.e2+1		decapping mRNA 2							150.0	141.0	144.0					5																	112321682		2202	4300	6502	SO:0001630	splice_region_variant	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112321682T>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.205+1T>C	5.37:g.112321682T>C						DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Splice_Site_p.A68_splice	p.A68_splice	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	2	402	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	68					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Splice_Site	SNP	ENST00000389063.2	37	c.205_splice	CCDS34210.1																																																																																				0.328	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624	Silent	79	377	0	0	0	1	0	79	377				
RFX6	222546	broad.mit.edu	37	6	117203554	117203554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203554C>A	ENST00000332958.2	+	4	545	c.529C>A	c.(529-531)Cta>Ata	p.L177I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	177					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTTCCCCTCCTAACAACAAG	0.403																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(529-531)Cta>Ata		regulatory factor X, 6							103.0	90.0	94.0					6																	117203554		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117203554C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.529C>A	6.37:g.117203554C>A	ENSP00000332208:p.Leu177Ile						p.L177I	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			4	545	+			177					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.529C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094011	0.76870	.	.	ENSG00000185002	ENST00000332958	D	0.84944	-1.92	5.67	3.77	0.43336	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.82793	0.5114	L	0.39467	1.215	0.53005	D	0.999967	D	0.71674	0.998	D	0.76575	0.988	D	0.83939	0.0310	10	0.87932	D	0	-12.8362	7.4403	0.27179	0.0:0.7691:0.0:0.2309	.	177	Q8HWS3	RFX6_HUMAN	I	177	ENSP00000332208:L177I	ENSP00000332208:L177I	L	+	1	2	RFX6	117310247	0.969000	0.33509	0.973000	0.42090	0.996000	0.88848	1.594000	0.36697	0.636000	0.30508	0.650000	0.86243	CTA		0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		49	193	1	0	1.11015e-26	1	1.28132e-26	49	193				
FNBP1L	54874	broad.mit.edu	37	1	93998540	93998540	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998540C>A	ENST00000271234.7	+	8	852	c.701C>A	c.(700-702)gCt>gAt	p.A234D	FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000260506.8_Missense_Mutation_p.A234D	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	234	F-BAR domain. {ECO:0000250}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGAGGATTTGCTGACTCAGAA	0.328																																						ENST00000260506.8																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(700-702)gCt>gAt		formin binding protein 1-like							84.0	79.0	81.0					1																	93998540		1849	4105	5954	SO:0001583	missense	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:93998540C>A		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.701C>A	1.37:g.93998540C>A	ENSP00000271234:p.Ala234Asp					FNBP1L_ENST00000271234.7_Missense_Mutation_p.A234D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D	p.A234D	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	8	852	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	234			Induction of membrane tubulation (By similarity).		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	c.701C>A	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115424	0.94339	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.87578	0.997;0.998;0.82	T	0.37150	-0.9718	10	0.72032	D	0.01	-25.113	19.8206	0.96591	0.0:1.0:0.0:0.0	.	54;234;234	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	D	234;234;234;234;101	ENSP00000359278:A234D;ENSP00000271234:A234D;ENSP00000260506:A234D;ENSP00000359275:A234D	ENSP00000260506:A234D	A	+	2	0	FNBP1L	93771128	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.252000	0.78309	2.686000	0.91538	0.591000	0.81541	GCT		0.328	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		17	142	1	0	2.23348e-06	1	2.30073e-06	17	142				
CR1L	1379	broad.mit.edu	37	1	207850896	207850896	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207850896C>A	ENST00000508064.2	+	2	320	c.260C>A	c.(259-261)gCt>gAt	p.A87D	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	87	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGACAAGTGCTAAGGACAAG	0.418																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(259-261)gCt>gAt		complement component (3b/4b) receptor 1-like							183.0	165.0	171.0					1																	207850896		1854	4091	5945	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207850896C>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.260C>A	1.37:g.207850896C>A	ENSP00000421736:p.Ala87Asp					CR1L_ENST00000530905.1_3'UTR	p.A87D	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			2	320	+			87			Sushi 1.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.260C>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123116	0.37436	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.64803	-0.12	2.55	-0.926	0.10455	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.68118	0.2966	M	0.70595	2.14	0.09310	N	1	D	0.53462	0.96	D	0.66196	0.942	T	0.58399	-0.7643	9	0.12430	T	0.62	.	5.3964	0.16271	0.0:0.4516:0.0:0.5484	.	87	Q2VPA4	CR1L_HUMAN	D	87	ENSP00000421736:A87D	ENSP00000434864:A31D	A	+	2	0	CR1L	205917519	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.768000	0.04715	-0.217000	0.10033	0.400000	0.26472	GCT		0.418	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		23	766	1	0	6.21321e-17	1	6.84222e-17	23	766				
ITGA1	3672	broad.mit.edu	37	5	52214572	52214572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52214572G>A	ENST00000282588.6	+	16	2457	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	667					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTCCCGAGATGTGGCCGTAGT	0.378																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1999-2001)Gtg>Atg		integrin, alpha 1							117.0	104.0	109.0					5																	52214572		2203	4299	6502	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52214572G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1999G>A	5.37:g.52214572G>A	ENSP00000282588:p.Val667Met						p.V667M	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			16	2457	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	667					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1999G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879359	0.91740	.	.	ENSG00000213949	ENST00000282588	D	0.82893	-1.66	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.89183	0.3545	10	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	667	P56199	ITA1_HUMAN	M	667	ENSP00000282588:V667M	ENSP00000282588:V667M	V	+	1	0	ITGA1	52250329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.973000	0.76116	2.738000	0.93877	0.655000	0.94253	GTG		0.378	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		12	239	0	0	0	1	0	12	239				
PPARGC1B	133522	broad.mit.edu	37	5	149216066	149216066	+	Missense_Mutation	SNP	G	G	A	rs369256348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216066G>A	ENST00000309241.5	+	8	2080	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	683					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCAGAAGCGTCCCTTCTCC	0.627																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2047-2049)cGt>cAt		peroxisome proliferator-activated receptor gamma, coactivator 1 beta		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	50.0	54.0	53.0		1931,1856,2048	4.5	1.0	5		53	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PPARGC1B	NM_001172698.1,NM_001172699.1,NM_133263.3	29,29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	644/985,619/960,683/1024	149216066	1,13003	2203	4299	6502	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216066G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2048G>A	5.37:g.149216066G>A	ENSP00000312649:p.Arg683His					PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H	p.R683H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2080	+			683					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2048G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443480	0.43429	0.0	1.16E-4	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.21361	2.03;2.01;2.05;2.02	4.47	4.47	0.54385	.	0.193702	0.33161	N	0.005210	T	0.22820	0.0551	L	0.58101	1.795	0.37255	D	0.906726	P;B;P;B;P	0.39737	0.685;0.212;0.685;0.414;0.685	B;B;B;B;B	0.32724	0.14;0.042;0.14;0.066;0.151	T	0.36480	-0.9746	10	0.87932	D	0	-17.9009	17.5766	0.87952	0.0:0.0:1.0:0.0	.	662;662;644;683;683	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	H	644;683;683;619	ENSP00000353638:R644H;ENSP00000377855:R683H;ENSP00000312649:R683H;ENSP00000384403:R619H	ENSP00000312649:R683H	R	+	2	0	PPARGC1B	149196259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.689000	0.74562	2.212000	0.71576	0.456000	0.33151	CGT		0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		78	418	0	0	0	1	0	78	418				
MPG	4350	broad.mit.edu	37	16	136767	136767	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:136767G>A	ENST00000219431.4	+	0	1193				NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399953.3_Silent_p.S548S|NPRL3_ENST00000399951.3_Silent_p.S369S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACCAGCACGCTGCGGAACT	0.637								Base excision repair (BER), DNA glycosylases																														ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(1642-1644)agC>agT		nitrogen permease regulator-like 3 (S. cerevisiae)							42.0	50.0	47.0					16																	136767		2128	4233	6361	SO:0001628	intergenic_variant	8131						protein binding	g.chr16:136767G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887		16.37:g.136767G>A						NPRL3_ENST00000399951.3_Silent_p.S369S|NPRL3_ENST00000405960.3_5'UTR	p.S548S	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			14	2046	-			549					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	c.1644C>T	CCDS32346.1																																																																																				0.637	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			14	49	0	0	0	1	0	14	49				
IGSF1	3547	broad.mit.edu	37	X	130412536	130412536	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130412536A>C	ENST00000361420.3	-	12	2019	c.1940T>G	c.(1939-1941)cTt>cGt	p.L647R	IGSF1_ENST00000370904.1_Missense_Mutation_p.L638R|IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R|IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	647	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGGCGCCAAGGGGGAAGGC	0.632																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1912-1914)cTt>cGt		immunoglobulin superfamily, member 1							54.0	55.0	55.0					X																	130412536		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412536A>C	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1940T>G	X.37:g.130412536A>C	ENSP00000355010:p.Leu647Arg					IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R|IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R|IGSF1_ENST00000361420.3_Missense_Mutation_p.L647R	p.L638R			Q8N6C5	IGSF1_HUMAN			18	2823	-			647			Ig-like C2-type 6.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1913T>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	a	17.30	3.354157	0.61293	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01092	5.35;5.35;5.35;5.35	5.09	5.09	0.68999	Immunoglobulin-like fold (1);	0.000000	0.34853	N	0.003622	T	0.06050	0.0157	M	0.78285	2.405	0.32560	N	0.531231	P;D;D	0.71674	0.672;0.998;0.97	P;D;P	0.74023	0.758;0.982;0.857	T	0.01993	-1.1233	10	0.87932	D	0	.	10.4656	0.44604	1.0:0.0:0.0:0.0	.	638;91;647	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	638;647;638;652	ENSP00000359947:L638R;ENSP00000355010:L647R;ENSP00000359941:L638R;ENSP00000359940:L652R	ENSP00000355010:L647R	L	-	2	0	IGSF1	130240217	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	4.481000	0.60250	1.810000	0.52873	0.483000	0.47432	CTT		0.632	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			135	387	0	0	0	1	0	135	387				
SCNN1A	6337	broad.mit.edu	37	12	6457894	6457894	+	Splice_Site	SNP	G	G	A	rs72657549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457894G>A	ENST00000228916.2	-	12	1726	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Splice_Site_p.T565M|SCNN1A_ENST00000360168.3_Splice_Site_p.T602M|SCNN1A_ENST00000540037.1_Splice_Site_p.T243M|SCNN1A_ENST00000543768.1_Splice_Site_p.T566M	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	543					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACGACCTACCGTGACAGAGGG	0.537																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.e12+1		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						131.0	117.0	122.0					12																	6457894		2203	4300	6503	SO:0001630	splice_region_variant	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457894G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1629+1C>T	12.37:g.6457894G>A						SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Splice_Site_p.T602_splice|SCNN1A_ENST00000540037.1_Splice_Site_p.T243_splice|SCNN1A_ENST00000543768.1_Splice_Site_p.T566_splice|SCNN1A_ENST00000228916.2_Splice_Site_p.T543_splice	p.T565_splice			P37088	SCNNA_HUMAN			12	2134	-			543					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Splice_Site	SNP	ENST00000228916.2	37	c.1695_splice	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540820	0.65085	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.0	5.0	0.66597	.	0.087235	0.49305	D	0.000157	T	0.79275	0.4418	M	0.85299	2.745	0.46631	D	0.999132	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.959;0.954	T	0.82234	-0.0558	10	0.87932	D	0	-21.3724	10.9631	0.47397	0.0:0.0:0.8132:0.1868	.	566;543;602	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	602;565;243;543;566	ENSP00000353292:T602M;ENSP00000351825:T565M;ENSP00000440876:T243M;ENSP00000228916:T543M;ENSP00000438739:T566M	ENSP00000228916:T543M	T	-	2	0	SCNN1A	6328155	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.608000	0.61141	2.331000	0.79229	0.591000	0.81541	ACG		0.537	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		Missense_Mutation	47	379	0	0	0	1	0	47	379				
GLE1	2733	broad.mit.edu	37	9	131298700	131298700	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131298700A>G	ENST00000309971.4	+	12	1819	c.1713A>G	c.(1711-1713)tcA>tcG	p.S571S	GLE1_ENST00000372770.4_Silent_p.S571S|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Silent_p.S317S	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	571					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AACGCATGTCAGGGATGATCC	0.468																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1711-1713)tcA>tcG		GLE1 RNA export mediator							127.0	103.0	111.0					9																	131298700		2203	4300	6503	SO:0001819	synonymous_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131298700A>G	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1713A>G	9.37:g.131298700A>G						GLE1_ENST00000539582.1_Silent_p.S317S|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Silent_p.S571S	p.S571S	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			12	1819	+			571					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Silent	SNP	ENST00000309971.4	37	c.1713A>G	CCDS35154.1																																																																																				0.468	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		10	269	0	0	0	1	0	10	269				
ENTPD5	957	broad.mit.edu	37	14	74433689	74433689	+	Missense_Mutation	SNP	G	G	A	rs149673221	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74433689G>A	ENST00000334696.6	-	16	1548	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	410					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGCCCAGCCCGTCTCTATGTT	0.498																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1228-1230)aCg>aTg		ectonucleoside triphosphate diphosphohydrolase 5		G	MET/THR	0,4406		0,0,2203	137.0	116.0	123.0		1229	5.1	0.9	14	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ENTPD5	NM_001249.2	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	410/429	74433689	3,13003	2203	4300	6503	SO:0001583	missense	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74433689G>A	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1229C>T	14.37:g.74433689G>A	ENSP00000335246:p.Thr410Met					ENTPD5_ENST00000557325.1_Intron	p.T410M	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	16	1548	-			410					A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	c.1229C>T	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090243	0.76756	0.0	3.49E-4	ENSG00000187097	ENST00000334696	T	0.10668	2.85	5.07	5.07	0.68467	.	0.108369	0.64402	N	0.000007	T	0.24586	0.0596	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	P	0.53490	0.727	T	0.00370	-1.1783	10	0.48119	T	0.1	-22.0174	16.8209	0.85745	0.0:0.0:1.0:0.0	.	410	O75356	ENTP5_HUMAN	M	410	ENSP00000335246:T410M	ENSP00000335246:T410M	T	-	2	0	ENTPD5	73503442	1.000000	0.71417	0.933000	0.37362	0.697000	0.40408	6.992000	0.76238	2.638000	0.89438	0.462000	0.41574	ACG		0.498	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		72	309	0	0	0	1	0	72	309				
PTPRT	11122	broad.mit.edu	37	20	40748583	40748583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40748583G>A	ENST00000373187.1	-	20	2875	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A978V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	959	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTTGAGTCGCAATGTAGTG	0.507																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2941-2943)gCg>gTg		protein tyrosine phosphatase, receptor type, T							135.0	134.0	134.0					20																	40748583		1914	4131	6045	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40748583G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2876C>T	20.37:g.40748583G>A	ENSP00000362283:p.Ala959Val					PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A959V	p.A981V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			21	3177	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	959			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2942C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704283	0.96812	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.6	5.6	0.85130	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.955	T	0.72513	-0.4270	10	0.87932	D	0	.	19.6134	0.95619	0.0:0.0:1.0:0.0	.	981;959	O14522-1;O14522	.;PTPRT_HUMAN	V	958;959;962;968;981;949;949	ENSP00000362286:A958V;ENSP00000362283:A959V;ENSP00000362289:A962V;ENSP00000348408:A968V;ENSP00000362294:A981V;ENSP00000362280:A949V;ENSP00000362297:A949V	ENSP00000348408:A968V	A	-	2	0	PTPRT	40181997	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.792000	0.99085	2.631000	0.89168	0.655000	0.94253	GCG		0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			93	449	0	0	0	1	0	93	449				
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0					ENST00000327554.2																			3	Substitution - Missense(3)	p.R131H(3)	lung(2)|ovary(1)	endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(391-393)cGc>cAc		coiled-coil domain containing 60		G	HIS/ARG	0,4406		0,0,2203	224.0	171.0	189.0		392	2.6	0.0	12	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/551	119916949	1,13005	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119916949G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.392G>A	12.37:g.119916949G>A	ENSP00000333374:p.Arg131His					CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.R131H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	4	857	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		131						Missense_Mutation	SNP	ENST00000327554.2	37	c.392G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873165	0.33069	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.37411	1.2	4.44	2.62	0.31277	.	0.000000	0.51477	D	0.000083	T	0.27731	0.0682	L	0.52126	1.63	0.09310	N	0.999997	B	0.25667	0.131	B	0.22880	0.042	T	0.14896	-1.0456	9	.	.	.	-7.2754	7.1847	0.25793	0.2043:0.0:0.7957:0.0	.	131	Q8IWA6	CCD60_HUMAN	H	131	ENSP00000333374:R131H	.	R	+	2	0	CCDC60	118401332	0.009000	0.17119	0.026000	0.17262	0.001000	0.01503	0.441000	0.21611	0.612000	0.30071	-0.143000	0.13931	CGC		0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		53	241	0	0	0	1	0	53	241				
ACBD3	64746	broad.mit.edu	37	1	226349293	226349293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226349293G>A	ENST00000366812.5	-	4	721	c.667C>T	c.(667-669)Cga>Tga	p.R223*	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	223	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcctcccgtcgaagcctttcc	0.453																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(667-669)Cga>Tga		acyl-CoA binding domain containing 3							133.0	109.0	117.0					1																	226349293		2203	4300	6503	SO:0001587	stop_gained	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226349293G>A	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.667C>T	1.37:g.226349293G>A	ENSP00000355777:p.Arg223*					ACBD3_ENST00000464927.1_5'UTR	p.R223*	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	4	721	-	Breast(184;0.158)		223			Arg-rich.|Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Nonsense_Mutation	SNP	ENST00000366812.5	37	c.667C>T	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194195	0.78902	.	.	ENSG00000182827	ENST00000366812	.	.	.	4.84	-9.22	0.00675	.	0.369517	0.30911	N	0.008625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1957	13.0271	0.58821	0.0922:0.0:0.6626:0.2452	.	.	.	.	X	223	.	ENSP00000355777:R223X	R	-	1	2	ACBD3	224415916	0.000000	0.05858	0.000000	0.03702	0.716000	0.41182	-0.204000	0.09425	-1.427000	0.01992	-1.503000	0.00956	CGA		0.453	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		39	330	0	0	0	1	0	39	330				
OR1C1	26188	broad.mit.edu	37	1	247921228	247921228	+	Missense_Mutation	SNP	C	C	T	rs568460638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247921228C>T	ENST00000408896.2	-	1	754	c.481G>A	c.(481-483)Gtc>Atc	p.V161I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	161					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTATTAGGACAGTATGCAGG	0.507																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(481-483)Gtc>Atc		olfactory receptor, family 1, subfamily C, member 1							71.0	69.0	69.0					1																	247921228		2084	4232	6316	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921228C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.481G>A	1.37:g.247921228C>T	ENSP00000386138:p.Val161Ile						p.V161I	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	754	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	161					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.481G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	1.094	-0.662999	0.03428	.	.	ENSG00000221888	ENST00000408896	T	0.37058	1.22	3.19	-6.38	0.01957	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18718	0.0449	N	0.26092	0.79	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.31110	-0.9955	9	0.72032	D	0.01	.	1.1296	0.01743	0.3319:0.3316:0.1089:0.2276	.	161	Q15619	OR1C1_HUMAN	I	161	ENSP00000386138:V161I	ENSP00000386138:V161I	V	-	1	0	OR1C1	245987851	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.647000	0.00860	-1.514000	0.01786	-1.099000	0.02127	GTC		0.507	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			48	149	0	0	0	1	0	48	149				
ITGAX	3687	broad.mit.edu	37	16	31382482	31382482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31382482G>T	ENST00000268296.4	+	15	1909	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	596					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACCTCACCCAGGATGGACTGG	0.652																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1786-1788)caG>caT		integrin, alpha X (complement component 3 receptor 4 subunit)							50.0	56.0	54.0					16																	31382482		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382482G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1788G>T	16.37:g.31382482G>T	ENSP00000268296:p.Gln596His					ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	p.Q596H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			15	1909	+			596					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1788G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106802	0.37145	.	.	ENSG00000140678	ENST00000268296	T	0.55588	0.51	5.39	4.44	0.53790	.	.	.	.	.	T	0.43722	0.1260	L	0.41961	1.31	0.28191	N	0.927758	B	0.13145	0.007	B	0.11329	0.006	T	0.36089	-0.9762	9	0.42905	T	0.14	.	8.4724	0.32993	0.1767:0.0:0.8233:0.0	.	596	P20702	ITAX_HUMAN	H	596	ENSP00000268296:Q596H	ENSP00000268296:Q596H	Q	+	3	2	ITGAX	31289983	0.989000	0.36119	0.873000	0.34254	0.857000	0.48899	1.990000	0.40717	1.390000	0.46547	0.655000	0.94253	CAG		0.652	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		36	529	1	0	2.75727e-19	1	3.0731e-19	36	529				
WDR46	9277	broad.mit.edu	37	6	33256731	33256731	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33256731C>T	ENST00000374617.4	-	2	485	c.129G>A	c.(127-129)ggG>ggA	p.G43G	PFDN6_ENST00000374607.1_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374610.2_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	43							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TACGAGGAGGCCCTGGAGAGG	0.572																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(127-129)ggG>ggA		WD repeat domain 46							55.0	60.0	58.0					6																	33256731		2203	4300	6503	SO:0001819	synonymous_variant	9277							g.chr6:33256731C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.129G>A	6.37:g.33256731C>T						WDR46_ENST00000477718.1_5'UTR	p.G43G	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			2	485	-			43					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	37	c.129G>A	CCDS4772.1																																																																																				0.572	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		8	428	0	0	0	1	0	8	428				
C6orf222	389384	broad.mit.edu	37	6	36298366	36298366	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36298366G>A	ENST00000437635.2	-	2	279	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	34										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGAGCCAATGGCAGTCCCACG	0.642																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(100-102)tgC>tgT		chromosome 6 open reading frame 222							53.0	59.0	57.0					6																	36298366		2203	4300	6503	SO:0001819	synonymous_variant	389384							g.chr6:36298366G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.102C>T	6.37:g.36298366G>A							p.C34C	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	279	-			34					B2RTY8	Silent	SNP	ENST00000437635.2	37	c.102C>T	CCDS34439.1																																																																																				0.642	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		109	488	0	0	0	1	0	109	488				
HIST2H2BA	337875	broad.mit.edu	37	1	120906259	120906259	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120906259C>T	ENST00000427872.1	-	0	0				RP11-439A17.10_ENST00000426275.1_RNA|HIST2H2BA_ENST00000430394.1_RNA																							CATCTTCGAGCGCATCGCGGG	0.632																																						ENST00000430394.1																			0																																																			0							g.chr1:120906259C>T																													1.37:g.120906259C>T								NR_027337.1						0	232	+									RNA	SNP	ENST00000427872.1	37																																																																																						0.632	RP11-439A17.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098238.1			59	487	0	0	0	1	0	59	487				
OFD1	8481	broad.mit.edu	37	X	13767603	13767603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13767603C>T	ENST00000340096.6	+	9	1213	c.886C>T	c.(886-888)Cta>Tta	p.L296L	OFD1_ENST00000380550.3_Silent_p.L296L|OFD1_ENST00000398395.3_Silent_p.L296L|OFD1_ENST00000380567.1_Silent_p.L156L|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	296					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TATGGATTTGCTAAGAGGAAG	0.303																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(466-468)Cta>Tta		oral-facial-digital syndrome 1							63.0	61.0	61.0					X																	13767603		2203	4295	6498	SO:0001819	synonymous_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13767603C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.886C>T	X.37:g.13767603C>T						OFD1_ENST00000398395.3_Silent_p.L296L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Silent_p.L296L|OFD1_ENST00000380550.3_Silent_p.L296L	p.L156L			O75665	OFD1_HUMAN			10	1338	+			296					B9ZVU5|O75666|Q4VAK4	Silent	SNP	ENST00000340096.6	37	c.466C>T	CCDS14157.1																																																																																				0.303	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		56	186	0	0	0	1	0	56	186				
HSPA1A	3303	broad.mit.edu	37	6	31785396	31785396	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31785396C>T	ENST00000375651.5	+	1	2106	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	HSPA1A_ENST00000458062.2_Silent_p.G530G|HSPA1A_ENST00000608703.1_Silent_p.G456G|HSPA1L_ENST00000375654.4_5'Flank|HSPA1L_ENST00000417199.3_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	621					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						GGCCTGGGGGCTTCGGGGCTC	0.587																																						ENST00000375651.5																			0				endometrium(1)|ovary(1)|stomach(1)	3						c.(1861-1863)ggC>ggT		heat shock 70kDa protein 1A							59.0	66.0	64.0					6																	31785396		1735	3531	5266	SO:0001819	synonymous_variant	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31785396C>T	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1863C>T	6.37:g.31785396C>T						HSPA1A_ENST00000458062.2_Silent_p.G530G	p.G621G	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN			1	2106	+			621					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375651.5	37	c.1863C>T	CCDS34414.1																																																																																				0.587	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			98	436	0	0	0	1	0	98	436				
MYO1G	64005	broad.mit.edu	37	7	45010479	45010479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010479G>A	ENST00000258787.7	-	8	1162	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	342	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCAGTGTGGCCCTTCTCTA	0.662																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(1024-1026)ggC>ggT		myosin IG							51.0	46.0	48.0					7																	45010479		2203	4300	6503	SO:0001819	synonymous_variant	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45010479G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1026C>T	7.37:g.45010479G>A							p.G342G	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			8	1162	-			342			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	c.1026C>T	CCDS34629.1																																																																																				0.662	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			41	231	0	0	0	1	0	41	231				
ARRB1	408	broad.mit.edu	37	11	74994458	74994458	+	Missense_Mutation	SNP	C	C	T	rs148019407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74994458C>T	ENST00000420843.2	-	5	324	c.227G>A	c.(226-228)cGc>cAc	p.R76H	ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H|ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	76	Interaction with CHRM2. {ECO:0000250}.|Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGTCCTTGCGAAAGGTCAG	0.642																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(226-228)cGc>cAc		arrestin, beta 1		C	HIS/ARG,HIS/ARG	0,4400		0,0,2200	75.0	66.0	69.0		227,227	4.5	1.0	11	dbSNP_134	69	1,8585	1.2+/-3.3	0,1,4292	yes	missense,missense	ARRB1	NM_004041.4,NM_020251.3	29,29	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	76/419,76/411	74994458	1,12985	2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74994458C>T	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.227G>A	11.37:g.74994458C>T	ENSP00000409581:p.Arg76His					ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H|ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H	p.R76H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			5	324	-			76			Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.227G>A	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632928	0.67015	0.0	1.16E-4	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.89968	3.075	0.80722	D	1	P;P	0.51791	0.75;0.948	B;B	0.41571	0.086;0.36	T	0.61182	-0.7114	10	0.62326	D	0.03	-6.2033	14.647	0.68767	0.0:1.0:0.0:0.0	.	76;76	P49407-2;P49407	.;ARRB1_HUMAN	H	76;76;76;71	ENSP00000409581:R76H;ENSP00000377141:R76H;ENSP00000353124:R76H;ENSP00000433171:R71H	ENSP00000353124:R76H	R	-	2	0	ARRB1	74672106	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.320000	0.79064	2.299000	0.77371	0.561000	0.74099	CGC		0.642	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		48	243	0	0	0	1	0	48	243				
UNC13D	201294	broad.mit.edu	37	17	73831747	73831747	+	Missense_Mutation	SNP	G	G	A	rs549768303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73831747G>A	ENST00000207549.4	-	19	2087	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	570	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATGCGCAGCTGGCAG	0.647									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	0.0	0.0014	5008	,	,		17452	0.0		0.0	False		,,,				2504	0.0					ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1708-1710)Cgc>Tgc		unc-13 homolog D (C. elegans)							35.0	33.0	33.0					17																	73831747		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831747G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1708C>T	17.37:g.73831747G>A	ENSP00000207549:p.Arg570Cys					UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	2087	-			570			MHD1.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1708C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583604	0.13749	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71222	-0.53;-0.55	4.88	2.84	0.33178	Munc13 homology 1 (1);	0.768652	0.12175	N	0.492658	T	0.57725	0.2073	L	0.34521	1.04	0.41761	D	0.98971	B;P	0.47841	0.0;0.901	B;B	0.40329	0.0;0.326	T	0.48433	-0.9036	10	0.38643	T	0.18	-6.1973	8.9429	0.35740	0.1557:0.6371:0.2072:0.0	.	570;570	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	570	ENSP00000207549:R570C;ENSP00000388093:R570C	ENSP00000207549:R570C	R	-	1	0	UNC13D	71343342	0.998000	0.40836	0.958000	0.39756	0.082000	0.17680	0.612000	0.24283	0.398000	0.25338	-0.424000	0.05967	CGC		0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		21	179	0	0	0	1	0	21	179				
COL3A1	1281	broad.mit.edu	37	2	189872614	189872614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189872614C>T	ENST00000304636.3	+	46	3537	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1123	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TTTCCAGGGCCCTGCTGGTCA	0.483																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(3367-3369)Cct>Tct		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						67.0	70.0	69.0					2																	189872614		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189872614C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3367C>T	2.37:g.189872614C>T	ENSP00000304408:p.Pro1123Ser					COL3A1_ENST00000317840.5_Intron	p.P1123S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		46	3537	+			1123			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3367C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634509	0.14322	.	.	ENSG00000168542	ENST00000304636	D	0.92397	-3.03	5.5	1.43	0.22495	.	0.499804	0.17163	N	0.184617	D	0.85427	0.5694	L	0.41415	1.275	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.70371	-0.4890	10	0.23302	T	0.38	.	7.5953	0.28044	0.1163:0.3413:0.475:0.0674	.	1123	P02461	CO3A1_HUMAN	S	1123	ENSP00000304408:P1123S	ENSP00000304408:P1123S	P	+	1	0	COL3A1	189580859	0.000000	0.05858	0.969000	0.41365	0.943000	0.58893	-0.751000	0.04803	0.263000	0.21812	0.650000	0.86243	CCT		0.483	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		112	344	0	0	0	1	0	112	344				
FXR1	8087	broad.mit.edu	37	3	180666195	180666195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666195C>T	ENST00000357559.4	+	5	715	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	111	Agenet-like 2.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CACATTTGAACGACTTCGGCC	0.338																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(331-333)Cga>Tga		fragile X mental retardation, autosomal homolog 1							51.0	53.0	53.0					3																	180666195		2203	4300	6503	SO:0001587	stop_gained	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180666195C>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.331C>T	3.37:g.180666195C>T	ENSP00000350170:p.Arg111*					FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*	p.R111*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		5	715	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		111					A8K9B8|Q7Z450|Q8N6R8	Nonsense_Mutation	SNP	ENST00000357559.4	37	c.331C>T	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	38	6.876758	0.97904	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	.	.	.	5.84	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4776	15.6882	0.77426	0.4626:0.5374:0.0:0.0	.	.	.	.	X	26;26;26;111;26;62;26;111;26;98;115	.	ENSP00000307633:R26X	R	+	1	2	FXR1	182148889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.668000	0.46816	0.761000	0.33130	0.650000	0.86243	CGA		0.338	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			41	213	0	0	0	1	0	41	213				
CDKL1	8814	broad.mit.edu	37	14	50799011	50799011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50799011C>T	ENST00000395834.1	-	8	965	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	ATP5S_ENST00000358473.1_Intron|CDKL1_ENST00000216378.2_3'UTR	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	312					heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R313Q(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GTGGTGCTTTCGGCTCTTTCT	0.418																																						ENST00000395834.1																			2	Substitution - Missense(2)	p.R313Q(2)	large_intestine(2)	endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(937-939)cGa>cAa		cyclin-dependent kinase-like 1 (CDC2-related kinase)							285.0	278.0	280.0					14																	50799011		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50799011C>T	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000395834.1:c.938G>A	14.37:g.50799011C>T	ENSP00000379176:p.Arg313Gln					CDKL1_ENST00000216378.2_3'UTR|ATP5S_ENST00000358473.1_Intron	p.R313Q	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN			8	965	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		312					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000395834.1	37	c.938G>A	CCDS9699.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522196	0.13066	.	.	ENSG00000100490	ENST00000395834	T	0.67171	-0.25	5.33	-1.19	0.09585	Protein kinase-like domain (1);	.	.	.	.	T	0.47600	0.1454	L	0.34521	1.04	0.46586	D	0.999114	B	0.02656	0.0	B	0.04013	0.001	T	0.14476	-1.0471	9	0.22109	T	0.4	.	6.9607	0.24595	0.0:0.5581:0.1076:0.3343	.	312	Q00532	CDKL1_HUMAN	Q	313	ENSP00000379176:R313Q	ENSP00000379176:R313Q	R	-	2	0	CDKL1	49868761	0.177000	0.23109	0.103000	0.21229	0.133000	0.20885	-0.075000	0.11431	-0.331000	0.08501	-1.000000	0.02509	CGA		0.418	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2			177	834	0	0	0	1	0	177	834				
SEMA3D	223117	broad.mit.edu	37	7	84666282	84666282	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84666282G>T	ENST00000284136.6	-	10	1157	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	372	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAGCATATGGACCATTAAAA	0.413																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1114-1116)Cca>Aca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							128.0	111.0	117.0					7																	84666282		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84666282G>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1114C>A	7.37:g.84666282G>T	ENSP00000284136:p.Pro372Thr					SEMA3D_ENST00000484038.1_5'UTR	p.P372T	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			10	1157	-			372			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1114C>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067582	0.76301	.	.	ENSG00000153993	ENST00000284136	T	0.24151	1.87	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.046255	0.85682	D	0.000000	T	0.62600	0.2441	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.69760	-0.5058	10	0.87932	D	0	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	372	O95025	SEM3D_HUMAN	T	372	ENSP00000284136:P372T	ENSP00000284136:P372T	P	-	1	0	SEMA3D	84504218	1.000000	0.71417	0.947000	0.38551	0.396000	0.30629	9.773000	0.98989	2.788000	0.95919	0.585000	0.79938	CCA		0.413	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		93	360	1	0	1.07111e-62	1	1.35032e-62	93	360				
SAMD9	54809	broad.mit.edu	37	7	92734899	92734899	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734899T>A	ENST00000379958.2	-	3	781	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	171						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACGATATGGATTACTGAATTC	0.363																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(511-513)aAt>aTt		sterile alpha motif domain containing 9							145.0	143.0	144.0					7																	92734899		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734899T>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.512A>T	7.37:g.92734899T>A	ENSP00000369292:p.Asn171Ile						p.N171I	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	781	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		171					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.512A>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663551	0.29515	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14391	2.51;2.51	4.7	3.53	0.40419	.	0.485095	0.17700	N	0.164974	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.25882	-1.0119	10	0.72032	D	0.01	.	4.973	0.14125	0.1622:0.089:0.0:0.7488	.	171	Q5K651	SAMD9_HUMAN	I	171	ENSP00000369292:N171I;ENSP00000414529:N171I	ENSP00000369292:N171I	N	-	2	0	SAMD9	92572835	0.002000	0.14202	0.020000	0.16555	0.966000	0.64601	0.554000	0.23407	0.934000	0.37316	0.491000	0.48974	AAT		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		52	538	0	0	0	1	0	52	538				
TRIM3	10612	broad.mit.edu	37	11	6472627	6472627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6472627G>A	ENST00000525074.1	-	8	1969	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	TRIM3_ENST00000345851.3_Silent_p.V525V|TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000537602.1_Silent_p.V447V|TRIM3_ENST00000536344.1_Silent_p.V406V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	525					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGTCCTCGGACCCCAAAAC	0.587																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1573-1575)gtC>gtT		tripartite motif containing 3							81.0	77.0	78.0					11																	6472627		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6472627G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1575C>T	11.37:g.6472627G>A						TRIM3_ENST00000536344.1_Silent_p.V406V|TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000537602.1_Silent_p.V447V|TRIM3_ENST00000345851.3_Silent_p.V525V	p.V525V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	8	1969	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	525					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.1575C>T	CCDS7764.1																																																																																				0.587	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		11	455	0	0	0	1	0	11	455				
FGD4	121512	broad.mit.edu	37	12	32772752	32772752	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772752C>A	ENST00000427716.2	+	11	1883	c.1459C>A	c.(1459-1461)Cca>Aca	p.P487T	FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000531134.1_Missense_Mutation_p.P572T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	487	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAAGAATATCCACATACTTT	0.438																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1459-1461)Cca>Aca		FYVE, RhoGEF and PH domain containing 4							116.0	111.0	113.0					12																	32772752		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32772752C>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1459C>A	12.37:g.32772752C>A	ENSP00000394487:p.Pro487Thr					FGD4_ENST00000531134.1_Missense_Mutation_p.P572T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T	p.P487T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			11	1883	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		487			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1459C>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641317	0.67244	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000131	D	0.94466	0.8219	M	0.75264	2.295	0.80722	D	1	B;P;D;D	0.89917	0.41;0.616;1.0;1.0	P;P;D;D	0.85130	0.579;0.579;0.997;0.995	D	0.94264	0.7505	10	0.56958	D	0.05	-14.0	19.5071	0.95124	0.0:1.0:0.0:0.0	.	599;572;487;239	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	T	624;572;487;239;394;599;239	ENSP00000449273:P624T;ENSP00000431323:P572T;ENSP00000394487:P487T;ENSP00000266482:P239T;ENSP00000446695:P394T;ENSP00000433666:P599T;ENSP00000370413:P239T	ENSP00000266482:P239T	P	+	1	0	FGD4	32664019	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	7.251000	0.78297	2.590000	0.87494	0.655000	0.94253	CCA		0.438	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		91	362	1	0	1.51503e-27	1	1.75539e-27	91	362				
PLAT	5327	broad.mit.edu	37	8	42037456	42037456	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42037456T>C	ENST00000220809.4	-	12	1607	c.1351A>G	c.(1351-1353)Aag>Gag	p.K451E	PLAT_ENST00000524009.1_Missense_Mutation_p.K362E|PLAT_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000352041.3_Missense_Mutation_p.K405E|PLAT_ENST00000519510.1_Missense_Mutation_p.K388E|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	451	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCCTCATGCTTGCCGTAGCCG	0.662																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1351-1353)Aag>Gag		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						50.0	34.0	39.0					8																	42037456		2203	4299	6502	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42037456T>C		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1351A>G	8.37:g.42037456T>C	ENSP00000220809:p.Lys451Glu					PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000524009.1_Missense_Mutation_p.K362E|PLAT_ENST00000352041.3_Missense_Mutation_p.K405E|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E|PLAT_ENST00000519510.1_Missense_Mutation_p.K388E	p.K451E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		12	1607	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	451			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.1351A>G	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213068	0.79352	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.39	5.39	0.77823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.133950	0.64402	D	0.000003	D	0.92080	0.7490	L	0.46819	1.47	0.80722	D	1	D;D;D;B;P;D	0.76494	0.995;0.999;0.999;0.259;0.817;0.998	D;D;D;P;B;D	0.80764	0.945;0.982;0.994;0.539;0.142;0.966	D	0.91523	0.5236	10	0.39692	T	0.17	.	15.7067	0.77588	0.0:0.0:0.0:1.0	.	325;362;388;451;405;451	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	E	451;451;405;388;325;362	ENSP00000392045:K451E;ENSP00000220809:K451E;ENSP00000270188:K405E;ENSP00000428886:K388E;ENSP00000407861:K325E;ENSP00000429401:K362E	ENSP00000220809:K451E	K	-	1	0	PLAT	42156613	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.612000	0.82975	2.168000	0.68352	0.533000	0.62120	AAG		0.662	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		4	86	0	0	0	1	0	4	86				
LZTS2	84445	broad.mit.edu	37	10	102763691	102763691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102763691G>A	ENST00000370220.1	+	2	3899	c.836G>A	c.(835-837)aGc>aAc	p.S279N	LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TCCTCCTCCAGCAAGAGCACA	0.697																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-837)aGc>aAc		leucine zipper, putative tumor suppressor 2							25.0	31.0	29.0					10																	102763691		2198	4295	6493	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763691G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.836G>A	10.37:g.102763691G>A	ENSP00000359240:p.Ser279Asn					LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N	p.S279N			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3899	+			279			Required for centrosomal localization (By similarity).|Ser-rich.			Missense_Mutation	SNP	ENST00000370220.1	37	c.836G>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769278	0.69992	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.51071	0.72;0.72	5.01	4.09	0.47781	.	0.041017	0.85682	D	0.000000	T	0.30230	0.0758	N	0.20685	0.6	0.49915	D	0.999835	B	0.25904	0.137	B	0.21151	0.033	T	0.08452	-1.0721	9	.	.	.	-17.0117	12.8199	0.57688	0.0808:0.0:0.9192:0.0	.	279	Q9BRK4	LZTS2_HUMAN	N	279	ENSP00000359243:S279N;ENSP00000359240:S279N	.	S	+	2	0	LZTS2	102753681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.131000	0.64751	2.467000	0.83353	0.561000	0.74099	AGC		0.697	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		85	316	0	0	0	1	0	85	316				
NOTCH3	4854	broad.mit.edu	37	19	15276713	15276713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15276713C>T	ENST00000263388.2	-	30	5627	c.5552G>A	c.(5551-5553)cGt>cAt	p.R1851H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1851					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCATCAGCACGGGCATAACG	0.642																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5551-5553)cGt>cAt		notch 3							59.0	46.0	50.0					19																	15276713		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276713C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5552G>A	19.37:g.15276713C>T	ENSP00000263388:p.Arg1851His						p.R1851H	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5627	-			1851					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5552G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098280	0.94197	.	.	ENSG00000074181	ENST00000263388	T	0.62639	0.01	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.29684	N	0.011477	T	0.66317	0.2777	N	0.12443	0.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72701	-0.4214	10	0.87932	D	0	.	18.0231	0.89261	0.0:1.0:0.0:0.0	.	1851	Q9UM47	NOTC3_HUMAN	H	1851	ENSP00000263388:R1851H	ENSP00000263388:R1851H	R	-	2	0	NOTCH3	15137713	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.557000	0.82243	2.790000	0.95986	0.655000	0.94253	CGT		0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		19	160	0	0	0	1	0	19	160				
MPI	4351	broad.mit.edu	37	15	75190002	75190002	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75190002T>C	ENST00000352410.4	+	8	1270	c.1203T>C	c.(1201-1203)aaT>aaC	p.N401N	MPI_ENST00000535694.1_Silent_p.N351N|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000563786.1_Silent_p.N381N|MPI_ENST00000323744.6_Silent_p.N340N|MPI_ENST00000566377.1_3'UTR			P34949	MPI_HUMAN	mannose phosphate isomerase	401					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TTGGGGCCAATGAGAGTGTCT	0.567																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1201-1203)aaT>aaC		mannose phosphate isomerase							192.0	167.0	175.0					15																	75190002		2197	4295	6492	SO:0001819	synonymous_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75190002T>C		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1203T>C	15.37:g.75190002T>C						MPI_ENST00000563786.1_Silent_p.N381N|MPI_ENST00000535694.1_Silent_p.N351N|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000323744.6_Silent_p.N340N	p.N401N			P34949	MPI_HUMAN			8	1270	+			401					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.1203T>C	CCDS10272.1																																																																																				0.567	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			76	344	0	0	0	1	0	76	344				
SH3TC2	79628	broad.mit.edu	37	5	148406207	148406207	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148406207A>C	ENST00000515425.1	-	12	3082	c.2981T>G	c.(2980-2982)cTc>cGc	p.L994R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L541R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	994					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGTCCCTGAGTTGCTGAGC	0.582																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1621-1623)cTc>cGc		SH3 domain and tetratricopeptide repeats 2							112.0	116.0	115.0					5																	148406207		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148406207A>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2981T>G	5.37:g.148406207A>C	ENSP00000423660:p.Leu994Arg					SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.L994R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A	p.L541R			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	2510	-			994					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1622T>G	CCDS4293.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.141326|3.141326	0.57044|0.57044	.|.	.|.	ENSG00000169247|ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049|ENST00000394358	T;T;T|T	0.80214|0.72394	-1.07;-1.35;-1.14|-0.65	5.37|5.37	5.37|5.37	0.77165|0.77165	Tetratricopeptide-like helical (1);|.	0.076781|.	0.53938|.	D|.	0.000058|.	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.45581|0.45581	1.43|1.43	0.24075|0.24075	N|N	0.995961|0.995961	D;D;D|P	0.89917|0.43633	1.0;1.0;1.0|0.813	D;D;D|B	0.80764|0.38264	0.994;0.994;0.994|0.269	T|T	0.64659|0.64659	-0.6355|-0.6355	10|9	0.87932|0.87932	D|D	0|0	-9.2116|-9.2116	15.5409|15.5409	0.76048|0.76048	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	987;994;994|915	Q14CC0;E9PDF1;Q8TF17|C9JLC3	.;.;S3TC2_HUMAN|.	R|A	541;994;987|915	ENSP00000441427:L541R;ENSP00000423660:L994R;ENSP00000421860:L987R|ENSP00000377886:S915A	ENSP00000425627:L994R|ENSP00000377886:S915A	L|S	-|-	2|1	0|0	SH3TC2|SH3TC2	148386400|148386400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	7.054000|7.054000	0.76649|0.76649	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	CTC|TCA		0.582	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		161	636	0	0	0	1	0	161	636				
ME1	4199	broad.mit.edu	37	6	83937109	83937109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937109C>T	ENST00000369705.3	-	11	1336	c.1220G>A	c.(1219-1221)aGt>aAt	p.S407N	ME1_ENST00000541327.1_Missense_Mutation_p.S241N|ME1_ENST00000543031.1_Missense_Mutation_p.S332N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	407					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AGTTGGATTACTCAAAGCAAA	0.333																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1219-1221)aGt>aAt		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						82.0	78.0	79.0					6																	83937109		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83937109C>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1220G>A	6.37:g.83937109C>T	ENSP00000358719:p.Ser407Asn					ME1_ENST00000541327.1_Missense_Mutation_p.S241N|ME1_ENST00000543031.1_Missense_Mutation_p.S332N	p.S407N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	11	1336	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	407					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.1220G>A	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402015	0.96030	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.45276	0.9;0.9;0.9	5.96	5.96	0.96718	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	H	0.99600	4.65	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.87963	0.2731	10	0.87932	D	0	-25.9458	20.4144	0.99026	0.0:1.0:0.0:0.0	.	407	P48163	MAOX_HUMAN	N	407;67;241;332	ENSP00000358719:S407N;ENSP00000439912:S241N;ENSP00000446114:S332N	ENSP00000358719:S407N	S	-	2	0	ME1	83993828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.833000	0.97629	0.555000	0.69702	AGT		0.333	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			12	244	0	0	0	1	0	12	244				
P2RY2	5029	broad.mit.edu	37	11	72945946	72945946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945946G>A	ENST00000311131.2	+	3	1209	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCGCACCATCGCCGTGGTGCT	0.647																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(742-744)Gcc>Acc		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						106.0	96.0	99.0					11																	72945946		2200	4293	6493	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945946G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.742G>A	11.37:g.72945946G>A	ENSP00000310305:p.Ala248Thr					P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T	p.A248T	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1209	+			248					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.742G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157056	0.38119	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.35236	1.32;1.32;1.32	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.122925	0.51477	D	0.000086	T	0.30070	0.0753	L	0.53671	1.685	0.33178	D	0.549133	P	0.39696	0.683	B	0.36845	0.234	T	0.50833	-0.8781	10	0.59425	D	0.04	.	6.7979	0.23734	0.2067:0.0:0.7933:0.0	.	248	P41231	P2RY2_HUMAN	T	248	ENSP00000377222:A248T;ENSP00000310305:A248T;ENSP00000377221:A248T	ENSP00000310305:A248T	A	+	1	0	P2RY2	72623594	0.960000	0.32886	0.666000	0.29783	0.606000	0.37113	2.458000	0.45014	2.170000	0.68504	0.561000	0.74099	GCC		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		107	388	0	0	0	1	0	107	388				
ZNF800	168850	broad.mit.edu	37	7	127014200	127014200	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014200G>T	ENST00000393313.1	-	5	1781	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H|ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H			Q2TB10	ZN800_HUMAN	zinc finger protein 800	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTATTATTAGGGCCTTTTTC	0.353																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1189-1191)cCt>cAt		zinc finger protein 800							94.0	101.0	99.0					7																	127014200		2203	4298	6501	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014200G>T	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1190C>A	7.37:g.127014200G>T	ENSP00000376989:p.Pro397His					ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H|ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H	p.P397H			Q2TB10	ZN800_HUMAN			5	1781	-			397					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1190C>A	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156460	0.21454	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14640	2.49;2.49;2.49	5.68	5.68	0.88126	.	0.134805	0.49305	D	0.000150	T	0.11110	0.0271	N	0.08118	0	0.30170	N	0.801362	D;D	0.56746	0.977;0.977	P;P	0.49561	0.615;0.615	T	0.31052	-0.9957	8	.	.	.	-3.818	14.3948	0.67003	0.0:0.1473:0.8527:0.0	.	300;397	B7Z4V7;Q2TB10	.;ZN800_HUMAN	H	397	ENSP00000376989:P397H;ENSP00000265827:P397H;ENSP00000376988:P397H	.	P	-	2	0	ZNF800	126801436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.676000	0.46883	2.685000	0.91497	0.650000	0.86243	CCT		0.353	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		99	539	1	0	1.59803e-59	1	2.00716e-59	99	539				
PIK3C3	5289	broad.mit.edu	37	18	39620653	39620653	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39620653T>G	ENST00000262039.4	+	19	2137	c.2051T>G	c.(2050-2052)tTt>tGt	p.F684C	PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	684	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTCATGCAGTTTATCCAGTCA	0.358										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(2050-2052)tTt>tGt		phosphatidylinositol 3-kinase, catalytic subunit type 3							181.0	170.0	173.0					18																	39620653		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39620653T>G	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2051T>G	18.37:g.39620653T>G	ENSP00000262039:p.Phe684Cys	TSP Lung(28;0.18)				PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C	p.F684C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			19	2137	+			684			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2051T>G	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117974	0.77323	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81739	-1.53;-1.53	5.74	5.74	0.90152	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.045884	0.85682	D	0.000000	D	0.86556	0.5961	L	0.49350	1.555	0.80722	D	1	P;D;P	0.89917	0.584;1.0;0.521	B;D;P	0.74348	0.382;0.983;0.493	D	0.85786	0.1364	9	.	.	.	.	16.0331	0.80597	0.0:0.0:0.0:1.0	.	621;621;684	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	C	684;621	ENSP00000262039:F684C;ENSP00000381845:F621C	.	F	+	2	0	PIK3C3	37874651	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	7.421000	0.80204	2.186000	0.69663	0.460000	0.39030	TTT		0.358	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		100	463	0	0	0	1	0	100	463				
ABCA2	20	broad.mit.edu	37	9	139914880	139914880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139914880G>A	ENST00000371605.3	-	9	1477	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	ABCA2_ENST00000265662.5_Missense_Mutation_p.R445W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	444					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGGTTCCGCTGCTCCTTG	0.677																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1333-1335)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 2							70.0	85.0	80.0					9																	139914880		2161	4247	6408	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139914880G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1330C>T	9.37:g.139914880G>A	ENSP00000360666:p.Arg444Trp					ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W|ABCA2_ENST00000371605.3_Missense_Mutation_p.R444W|ABCA2_ENST00000492260.1_5'UTR	p.R445W			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	10	1480	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	444					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1333C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323890|4.323890	0.81580|0.81580	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000470535|ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.|D;D;D	.|0.89617	.|-2.54;-2.54;-2.54	4.64|4.64	3.7|3.7	0.42460|0.42460	.|.	.|0.149744	.|0.43260	.|U	.|0.000598	D|D	0.92691|0.92691	0.7677|0.7677	M|M	0.65975|0.65975	2.015|2.015	0.50039|0.50039	D|D	0.999845|0.999845	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76071	.|0.987;0.987;0.987	D|D	0.93110|0.93110	0.6516|0.6516	5|10	.|0.87932	.|D	.|0	.|.	11.9976|11.9976	0.53212|0.53212	0.0:0.0:0.6897:0.3103|0.0:0.0:0.6897:0.3103	.|.	.|444;474;475	.|Q9BZC7;E7EU84;E7ETC3	.|ABCA2_HUMAN;.;.	V|W	55|445;444;475;445	.|ENSP00000265662:R445W;ENSP00000360666:R444W;ENSP00000344155:R445W	.|ENSP00000265662:R445W	A|R	-|-	2|1	0|2	ABCA2|ABCA2	139034701|139034701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.091000|3.091000	0.50199|0.50199	2.113000|2.113000	0.64589|0.64589	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		63	354	0	0	0	1	0	63	354				
GLS2	27165	broad.mit.edu	37	12	56866494	56866494	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56866494G>A	ENST00000311966.4	-	15	1769	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	497					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CTGAGACATCGCCACTATAGG	0.423																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1489-1491)ggC>ggT		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						178.0	147.0	158.0					12																	56866494		2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56866494G>A		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1491C>T	12.37:g.56866494G>A							p.G497G	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			15	1769	-			497					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.1491C>T	CCDS8921.1																																																																																				0.423	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		95	357	0	0	0	1	0	95	357				
USP44	84101	broad.mit.edu	37	12	95922698	95922698	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95922698A>C	ENST00000258499.3	-	3	1797	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	USP44_ENST00000393091.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000537435.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	503	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CACTGCATTGATACCTTTCTG	0.378																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1507-1509)taT>taG		ubiquitin specific peptidase 44							81.0	78.0	79.0					12																	95922698		2203	4300	6503	SO:0001587	stop_gained	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95922698A>C	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1509T>G	12.37:g.95922698A>C	ENSP00000258499:p.Tyr503*					USP44_ENST00000537435.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000552440.1_Intron|USP44_ENST00000393091.2_Nonsense_Mutation_p.Y503*	p.Y503*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			3	1797	-			503					B2RDW3	Nonsense_Mutation	SNP	ENST00000258499.3	37	c.1509T>G	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	41	8.936076	0.99008	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	.	.	.	5.94	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1397	0.36897	0.3593:0.0:0.6407:0.0	.	.	.	.	X	503	.	ENSP00000258499:Y503X	Y	-	3	2	USP44	94446829	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.363000	0.34159	0.272000	0.22027	-0.366000	0.07423	TAT		0.378	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		53	223	0	0	0	1	0	53	223				
C4orf22	255119	broad.mit.edu	37	4	81504321	81504321	+	Missense_Mutation	SNP	G	G	A	rs150179610	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81504321G>A	ENST00000358105.3	+	3	366	c.317G>A	c.(316-318)cGc>cAc	p.R106H	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	106										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GAAGACAATCGCAGTGGAAAA	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		13718	0.001		0.001	False		,,,				2504	0.0					ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(316-318)cGc>cAc		chromosome 4 open reading frame 22							73.0	71.0	72.0					4																	81504321		2203	4300	6503	SO:0001583	missense	255119							g.chr4:81504321G>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.317G>A	4.37:g.81504321G>A	ENSP00000350818:p.Arg106His					C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H	p.R106H	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			3	366	+			106					E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	c.317G>A	CCDS3587.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.08	3.021501	0.54576	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.33654	1.4;1.4	5.55	3.77	0.43336	.	0.207143	0.40222	N	0.001144	T	0.63757	0.2538	M	0.91818	3.245	0.37468	D	0.915485	D;D	0.89917	1.0;1.0	D;D	0.75484	0.981;0.986	T	0.71104	-0.4689	10	0.62326	D	0.03	.	9.1071	0.36705	0.077:0.0:0.7644:0.1587	.	106;106	E7EQ13;Q6V702	.;CD022_HUMAN	H	106	ENSP00000350818:R106H;ENSP00000425786:R106H	ENSP00000350818:R106H	R	+	2	0	C4orf22	81723345	1.000000	0.71417	0.627000	0.29227	0.259000	0.26198	3.675000	0.54605	0.837000	0.34925	0.655000	0.94253	CGC		0.343	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		52	250	0	0	0	1	0	52	250				
SOS2	6655	broad.mit.edu	37	14	50641224	50641224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50641224C>T	ENST00000216373.5	-	8	1290	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SOS2_ENST00000543680.1_Intron|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	339	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R339H(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGCATAAGACGTGGAAGGAC	0.378																																						ENST00000216373.5																			2	Substitution - Missense(2)	p.R339H(2)	large_intestine(2)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1015-1017)cGt>cAt		son of sevenless homolog 2 (Drosophila)							111.0	82.0	92.0					14																	50641224		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50641224C>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1016G>A	14.37:g.50641224C>T	ENSP00000216373:p.Arg339His					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Intron	p.R339H	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			8	1290	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		339			DH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1016G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347167	0.82022	.	.	ENSG00000100485	ENST00000216373	D	0.92348	-3.02	5.6	4.72	0.59763	Dbl homology (DH) domain (5);	0.051123	0.85682	D	0.000000	D	0.94159	0.8126	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61275	0.886;0.886	D	0.94482	0.7694	10	0.72032	D	0.01	.	14.443	0.67330	0.0:0.9292:0.0:0.0707	.	369;339	Q59G32;Q07890	.;SOS2_HUMAN	H	339	ENSP00000216373:R339H	ENSP00000216373:R339H	R	-	2	0	SOS2	49710974	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.403000	0.66338	1.368000	0.46115	0.591000	0.81541	CGT		0.378	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			11	144	0	0	0	1	0	11	144				
DENND6B	414918	broad.mit.edu	37	22	50752138	50752138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50752138G>A	ENST00000413817.3	-	15	1290	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	407					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TCTGACGGCCGCTTCTTCTGC	0.687																																						ENST00000413817.2																			0											c.(1219-1221)Cgg>Tgg		DENN/MADD domain containing 6B							18.0	22.0	20.0					22																	50752138		2034	4159	6193	SO:0001583	missense	414918							g.chr22:50752138G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1219C>T	22.37:g.50752138G>A	ENSP00000391524:p.Arg407Trp						p.R407W	NM_001001794.3	NP_001001794.3					15	1290	-								A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	c.1219C>T	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240602	0.58995	.	.	ENSG00000205593	ENST00000413817	.	.	.	4.96	1.37	0.22104	.	0.116518	0.53938	D	0.000055	T	0.69260	0.3091	M	0.80332	2.49	0.43841	D	0.996422	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	T	0.68146	-0.5486	9	0.87932	D	0	-35.8017	5.8841	0.18872	0.0911:0.0:0.4045:0.5044	.	407;407	Q8NEG7;C9JIV6	F116B_HUMAN;.	W	407	.	ENSP00000391524:R407W	R	-	1	2	FAM116B	49094710	0.990000	0.36364	0.725000	0.30721	0.644000	0.38419	0.977000	0.29475	0.457000	0.26962	0.462000	0.41574	CGG		0.687	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		8	33	0	0	0	1	0	8	33				
PCDHGA6	56109	broad.mit.edu	37	5	140754632	140754632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754632C>T	ENST00000517434.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGTCTTCGAGACAGAGC	0.428																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(982-984)Cga>Tga									150.0	156.0	154.0					5																	140754632		1875	4098	5973	SO:0001587	stop_gained	0							g.chr5:140754632C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.982C>T	5.37:g.140754632C>T	ENSP00000429601:p.Arg328*					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R328*	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	982	+								A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	ENST00000517434.1	37	c.982C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764994	0.69878	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	1.19	0.21007	.	3.053800	0.03411	U	0.204832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.5292	0.07770	0.5634:0.2093:0.1253:0.102	.	.	.	.	X	328	.	ENSP00000429601:R328X	R	+	1	2	PCDHGA6	140734816	0.000000	0.05858	0.582000	0.28627	0.675000	0.39556	-0.383000	0.07398	0.355000	0.24131	0.655000	0.94253	CGA		0.428	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		127	663	0	0	0	1	0	127	663				
PCDH12	51294	broad.mit.edu	37	5	141337392	141337392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141337392G>T	ENST00000231484.3	-	1	1235	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	9					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGCCCCAGCAGAAGTTGC	0.498																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(25-27)Ctg>Atg		protocadherin 12							62.0	69.0	67.0					5																	141337392		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141337392G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.25C>A	5.37:g.141337392G>T	ENSP00000231484:p.Leu9Met						p.L9M	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1235	-		all_hematologic(541;0.0999)	9					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.25C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817293	0.50633	.	.	ENSG00000113555	ENST00000231484;ENST00000510041	T	0.55588	0.51	4.72	3.83	0.44106	.	0.089843	0.46758	D	0.000273	T	0.63307	0.2500	L	0.54323	1.7	0.30373	N	0.782712	D	0.76494	0.999	D	0.68765	0.96	T	0.61322	-0.7086	10	0.46703	T	0.11	.	10.9922	0.47555	0.0943:0.0:0.9057:0.0	.	9	Q9NPG4	PCD12_HUMAN	M	9	ENSP00000231484:L9M	ENSP00000231484:L9M	L	-	1	2	PCDH12	141317576	0.526000	0.26298	1.000000	0.80357	0.956000	0.61745	0.819000	0.27308	2.465000	0.83290	0.462000	0.41574	CTG		0.498	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		15	533	1	0	3.27435e-08	1	3.41456e-08	15	533				
CNOT3	4849	broad.mit.edu	37	19	54659048	54659048	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659048G>T	ENST00000406403.1	+	17	3768	c.2165G>T	c.(2164-2166)gGc>gTc	p.G722V	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Splice_Site_p.G722V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	722	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGGCCAGGGCACCTACATC	0.592																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.e17-1		CCR4-NOT transcription complex, subunit 3							68.0	55.0	59.0					19																	54659048		2203	4300	6503	SO:0001630	splice_region_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54659048G>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2164-1G>T	19.37:g.54659048G>T						LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Splice_Site_p.G722_splice	p.G722_splice			O75175	CNOT3_HUMAN			17	3768	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		722					Q9NZN7|Q9UF76	Splice_Site	SNP	ENST00000406403.1	37	c.2163_splice	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770074	0.90108	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.61274	0.12;0.12;0.12	4.49	4.49	0.54785	NOT2/NOT3/NOT5 (1);	0.065863	0.64402	D	0.000017	D	0.82747	0.5104	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88337	0.2972	10	0.87932	D	0	-29.4252	16.5216	0.84318	0.0:0.0:1.0:0.0	.	722	O75175	CNOT3_HUMAN	V	722;722;57	ENSP00000221232:G722V;ENSP00000383954:G722V;ENSP00000420064:G57V	ENSP00000221232:G722V	G	+	2	0	CNOT3	59350860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.110000	0.94302	2.503000	0.84419	0.561000	0.74099	GGC		0.592	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	Missense_Mutation	16	105	1	0	2.23348e-06	1	2.30073e-06	16	105				
ARR3	407	broad.mit.edu	37	X	69497300	69497300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69497300C>A	ENST00000307959.8	+	9	581	c.530C>A	c.(529-531)cCt>cAt	p.P177H	ARR3_ENST00000374495.3_Missense_Mutation_p.P177H	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	177					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GAGGCAGGCCCTGGCCCCTCA	0.582																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(529-531)cCt>cAt		arrestin 3, retinal (X-arrestin)							72.0	62.0	65.0					X																	69497300		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69497300C>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.530C>A	X.37:g.69497300C>A	ENSP00000311538:p.Pro177His					ARR3_ENST00000307959.8_Missense_Mutation_p.P177H	p.P177H			P36575	ARRC_HUMAN			9	628	+			177					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.530C>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148748	0.78001	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.15718	2.4;2.79	4.37	4.37	0.52481	Immunoglobulin E-set (1);	0.164200	0.56097	D	0.000036	T	0.38321	0.1036	M	0.79258	2.445	0.51012	D	0.999904	D;D	0.67145	0.996;0.991	P;P	0.58172	0.712;0.834	T	0.42481	-0.9449	10	0.72032	D	0.01	.	15.4181	0.74987	0.0:1.0:0.0:0.0	.	177;177	P36575;P36575-2	ARRC_HUMAN;.	H	177	ENSP00000363619:P177H;ENSP00000311538:P177H	ENSP00000311538:P177H	P	+	2	0	ARR3	69414025	0.972000	0.33761	0.987000	0.45799	0.666000	0.39218	3.340000	0.52143	1.903000	0.55091	0.513000	0.50165	CCT		0.582	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		31	116	1	0	2.65835e-16	1	2.91905e-16	31	116				
SPERT	220082	broad.mit.edu	37	13	46287329	46287329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46287329G>A	ENST00000310521.1	+	3	249	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SPERT_ENST00000378966.3_Missense_Mutation_p.E21K	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	57						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.E57K(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGGCACAGCCGAACCCTTCCC	0.647																																						ENST00000378966.3																			1	Substitution - Missense(1)	p.E57K(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(61-63)Gaa>Aaa		spermatid associated							21.0	21.0	21.0					13																	46287329		2201	4298	6499	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287329G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.169G>A	13.37:g.46287329G>A	ENSP00000309189:p.Glu57Lys					SPERT_ENST00000310521.1_Missense_Mutation_p.E57K	p.E21K			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	477	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	57					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.61G>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247467	0.59103	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.57752	0.39;0.38	5.1	5.1	0.69264	.	0.000000	0.48286	D	0.000181	T	0.63651	0.2529	L	0.40543	1.245	0.39134	D	0.961919	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.67601	-0.5629	10	0.87932	D	0	.	13.8953	0.63768	0.0:0.0:1.0:0.0	.	21;57	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	K	57;30;21	ENSP00000309189:E57K;ENSP00000368249:E21K	ENSP00000309189:E57K	E	+	1	0	SPERT	45185330	0.994000	0.37717	0.998000	0.56505	0.231000	0.25187	2.592000	0.46171	2.653000	0.90120	0.650000	0.86243	GAA		0.647	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		45	167	0	0	0	1	0	45	167				
IGF2BP3	10643	broad.mit.edu	37	7	23391009	23391009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391009G>A	ENST00000258729.3	-	6	954	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	200	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGAACCAGCAGGCGCAGAGGC	0.567																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(598-600)Ctg>Ttg		insulin-like growth factor 2 mRNA binding protein 3							101.0	92.0	95.0					7																	23391009		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391009G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.598C>T	7.37:g.23391009G>A						IGF2BP3_ENST00000491719.1_5'UTR	p.L200L	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			6	954	-			200			KH 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.598C>T	CCDS5382.1																																																																																				0.567	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		63	294	0	0	0	1	0	63	294				
ATCAY	85300	broad.mit.edu	37	19	3910849	3910849	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3910849C>T	ENST00000450849.2	+	8	1295	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATCAY_ENST00000600960.1_Silent_p.F276F|ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000398448.3_Silent_p.F282F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	276	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCGTGGTTCATTCGGACTG	0.602																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(826-828)ttC>ttT		ataxia, cerebellar, Cayman type							122.0	131.0	128.0					19																	3910849		2138	4237	6375	SO:0001819	synonymous_variant	85300				transport		protein binding	g.chr19:3910849C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.828C>T	19.37:g.3910849C>T						ATCAY_ENST00000398448.3_Silent_p.F282F|ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000600960.1_Silent_p.F276F	p.F276F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	8	1295	+		Hepatocellular(1079;0.137)	276			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	c.828C>T	CCDS45923.1																																																																																				0.602	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			78	328	0	0	0	1	0	78	328				
KANSL3	55683	broad.mit.edu	37	2	97276577	97276577	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97276577A>C	ENST00000431828.1	-	11	1281	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C	KANSL3_ENST00000440133.1_Missense_Mutation_p.F196C|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.F315C|KANSL3_ENST00000599854.1_Missense_Mutation_p.F315C			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	402					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ACCAATGACAAAGAGGACTGG	0.473																																						ENST00000599854.1																			0											c.(943-945)tTt>tGt		KAT8 regulatory NSL complex subunit 3							160.0	154.0	156.0					2																	97276577		1901	4127	6028	SO:0001583	missense	55683							g.chr2:97276577A>C	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1205T>G	2.37:g.97276577A>C	ENSP00000396749:p.Phe402Cys					KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.F196C|KANSL3_ENST00000441706.2_Missense_Mutation_p.F315C|KANSL3_ENST00000431828.1_Missense_Mutation_p.F402C	p.F315C	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			11	1411	-			402					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.944T>G	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752617	0.89753	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.47177	0.85;0.85;0.85	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.983;0.998;0.98	T	0.67937	-0.5541	10	0.87932	D	0	.	14.5244	0.67878	1.0:0.0:0.0:0.0	.	196;402;315;290	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	C	315;290;402;315;196;196;315	ENSP00000396749:F402C;ENSP00000400678:F315C;ENSP00000406207:F196C	ENSP00000346144:F315C	F	-	2	0	KIAA1310	96640304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.136000	0.94489	2.313000	0.78055	0.455000	0.32223	TTT		0.473	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		196	623	0	0	0	1	0	196	623				
PCSK4	54760	broad.mit.edu	37	19	1488000	1488000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1488000C>A	ENST00000300954.5	-	4	540	c.479G>T	c.(478-480)gGc>gTc	p.G160V	PCSK4_ENST00000587784.1_5'UTR|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGATGCCATCGTCCAG	0.677																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(478-480)gGc>gTc		proprotein convertase subtilisin/kexin type 4							90.0	89.0	89.0					19																	1488000		2203	4300	6503	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1488000C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.479G>T	19.37:g.1488000C>A	ENSP00000300954:p.Gly160Val					PCSK4_ENST00000587784.1_5'UTR	p.G160V	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	540	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	160			Catalytic (By similarity).			Missense_Mutation	SNP	ENST00000300954.5	37	c.479G>T	CCDS12069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.198276|3.198276	0.58126|0.58126	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000441747|ENST00000300954	.|D	.|0.97710	.|-4.5	2.67|2.67	2.67|2.67	0.31697|0.31697	.|Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	.|0.000000	.|0.50627	.|D	.|0.000109	D|D	0.98998|0.98998	0.9658|0.9658	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	P|D	0.43750|0.89917	0.816|1.0	B|D	0.26864|0.97110	0.074|1.0	D|D	0.98703|0.98703	1.0701|1.0701	8|10	0.13853|0.87932	T|D	0.58|0	.|.	11.0356|11.0356	0.47799|0.47799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|160	B3KQ28|Q6UW60	.|PCSK4_HUMAN	S|V	2|160	.|ENSP00000300954:G160V	ENSP00000402772:A2S|ENSP00000300954:G160V	A|G	-|-	1|2	0|0	PCSK4|PCSK4	1439000|1439000	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.692000|0.692000	0.40212|0.40212	7.471000|7.471000	0.80985|0.80985	1.501000|1.501000	0.48654|0.48654	0.491000|0.491000	0.48974|0.48974	GCA|GGC		0.677	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		155	669	1	0	4.44197e-71	1	5.64539e-71	155	669				
SCFD2	152579	broad.mit.edu	37	4	54232059	54232059	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54232059A>G	ENST00000401642.3	-	1	183	c.50T>C	c.(49-51)gTg>gCg	p.V17A	SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	17					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTTGGCCAGCACCTGCTCCCA	0.622																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(49-51)gTg>gCg		sec1 family domain containing 2							47.0	52.0	50.0					4																	54232059		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54232059A>G	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.50T>C	4.37:g.54232059A>G	ENSP00000384182:p.Val17Ala					SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	p.V17A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	183	-			17					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.50T>C	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432887	0.83776	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.59364	0.29;0.27	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	L	0.51422	1.61	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.978	T	0.72494	-0.4276	10	0.72032	D	0.01	.	13.3568	0.60633	1.0:0.0:0.0:0.0	.	17;17	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	A	17	ENSP00000384182:V17A;ENSP00000373592:V17A	ENSP00000373592:V17A	V	-	2	0	SCFD2	53926816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.218000	0.72224	2.317000	0.78254	0.459000	0.35465	GTG		0.622	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		59	283	0	0	0	1	0	59	283				
MRPL21	219927	broad.mit.edu	37	11	68664142	68664142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68664142G>A	ENST00000362034.2	-	4	246	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	79					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCTTCACGACCTCTGCAG	0.632																																						ENST00000362034.2																			0				large_intestine(1)|lung(6)|prostate(1)	8						c.(235-237)gtC>gtT		mitochondrial ribosomal protein L21							117.0	103.0	108.0					11																	68664142		2200	4294	6494	SO:0001819	synonymous_variant	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68664142G>A	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.237C>T	11.37:g.68664142G>A						MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	p.V79V	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	246	-			79					A6NKU0|C9JPR2	Silent	SNP	ENST00000362034.2	37	c.237C>T	CCDS8186.1																																																																																				0.632	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512		100	492	0	0	0	1	0	100	492				
TNKS2	80351	broad.mit.edu	37	10	93608297	93608297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608297G>A	ENST00000371627.4	+	19	2895	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	839					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTGCAGCCAGCAGTCTTGAC	0.488																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(2515-2517)aGc>aAc		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							109.0	101.0	104.0					10																	93608297		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93608297G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2516G>A	10.37:g.93608297G>A	ENSP00000360689:p.Ser839Asn						p.S839N	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			19	2895	+		Colorectal(252;0.162)	839					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.2516G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052890	0.75960	.	.	ENSG00000107854	ENST00000371627	T	0.64991	-0.13	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.53249	1.67	0.45914	D	0.998755	P	0.45348	0.856	B	0.38562	0.276	T	0.55915	-0.8065	10	0.16420	T	0.52	.	20.0155	0.97477	0.0:0.0:1.0:0.0	.	839	Q9H2K2	TNKS2_HUMAN	N	839	ENSP00000360689:S839N	ENSP00000360689:S839N	S	+	2	0	TNKS2	93598277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.742000	0.94016	0.591000	0.81541	AGC		0.488	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		77	409	0	0	0	1	0	77	409				
CTAGE5	4253	broad.mit.edu	37	14	39790133	39790133	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39790133G>T	ENST00000280083.3	+	19	1859	c.1545G>T	c.(1543-1545)gaG>gaT	p.E515D	RP11-407N17.3_ENST00000603904.1_Splice_Site_p.E486D|CTAGE5_ENST00000341502.5_Splice_Site_p.E515D|CTAGE5_ENST00000396165.4_Splice_Site_p.E486D|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000341749.3_Splice_Site_p.E503D|CTAGE5_ENST00000557038.1_Splice_Site_p.E435D|RP11-407N17.3_ENST00000553728.1_Splice_Site_p.E1050D|CTAGE5_ENST00000396158.2_Splice_Site_p.E520D|CTAGE5_ENST00000556148.1_Splice_Site_p.E440D|CTAGE5_ENST00000553352.1_Splice_Site_p.E486D			O15320	CTGE5_HUMAN	CTAGE family, member 5	515	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTATTCCAGAGCATTCCCCAT	0.413																																						ENST00000553728.1																			0											c.e23-1									127.0	134.0	131.0					14																	39790133		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr14:39790133G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1544-1G>T	14.37:g.39790133G>T						CTAGE5_ENST00000396165.4_Splice_Site_p.E486_splice|CTAGE5_ENST00000553352.1_Splice_Site_p.E486_splice|RP11-407N17.3_ENST00000603904.1_Splice_Site_p.E486_splice|CTAGE5_ENST00000341502.5_Splice_Site_p.E515_splice|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000556148.1_Splice_Site_p.E440_splice|CTAGE5_ENST00000341749.3_Splice_Site_p.E503_splice|CTAGE5_ENST00000280083.3_Splice_Site_p.E515_splice|CTAGE5_ENST00000557038.1_Splice_Site_p.E435_splice|CTAGE5_ENST00000396158.2_Splice_Site_p.E520_splice	p.E1050_splice							23	3363	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Splice_Site	SNP	ENST00000280083.3	37	c.3148_splice	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087452	0.55968	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000553352	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.95	3.08	0.35506	.	0.000000	0.34133	N	0.004227	T	0.55130	0.1901	M	0.68593	2.085	0.38230	D	0.941008	D;P;P;P	0.54601	0.967;0.897;0.897;0.897	D;P;P;P	0.63113	0.911;0.779;0.779;0.831	T	0.55522	-0.8128	9	.	.	.	.	8.6454	0.34003	0.3044:0.0:0.6956:0.0	.	477;520;515;503	F8W9E1;O15320-5;O15320;G3XAC5	.;.;CTGE5_HUMAN;.	D	1050;503;435;477;486;515;520;515;440;486	ENSP00000452252:E1050D;ENSP00000343897:E503D;ENSP00000450869:E435D;ENSP00000379468:E486D;ENSP00000339286:E515D;ENSP00000379462:E520D;ENSP00000280083:E515D;ENSP00000452562:E440D;ENSP00000450449:E486D	.	E	+	3	2	CTAGE5;RP11-407N17.3	38859884	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.961000	0.40432	0.381000	0.24851	-0.150000	0.13652	GAG		0.413	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930	Missense_Mutation	13	549	1	0	3.27435e-08	1	3.41456e-08	13	549				
AHNAK	79026	broad.mit.edu	37	11	62299043	62299043	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299043G>T	ENST00000378024.4	-	5	3120	c.2846C>A	c.(2845-2847)cCt>cAt	p.P949H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	949					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATCAGGCATGGAGAT	0.463																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2845-2847)cCt>cAt		AHNAK nucleoprotein							154.0	165.0	161.0					11																	62299043		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299043G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2846C>A	11.37:g.62299043G>T	ENSP00000367263:p.Pro949His					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P949H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3120	-		Melanoma(852;0.155)	949					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2846C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	19.41	3.821686	0.71028	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	4.78	4.78	0.61160	.	0.133316	0.51477	D	0.000095	T	0.39279	0.1072	H	0.96015	3.755	0.41368	D	0.987472	D	0.89917	1.0	D	0.87578	0.998	T	0.60596	-0.7232	10	0.72032	D	0.01	-5.9758	17.7797	0.88520	0.0:0.0:1.0:0.0	.	949	Q09666	AHNK_HUMAN	H	949	ENSP00000367263:P949H	ENSP00000367263:P949H	P	-	2	0	AHNAK	62055619	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.298000	0.78815	2.358000	0.79984	0.455000	0.32223	CCT		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		179	1010	1	0	1.591e-50	1	1.97159e-50	179	1010				
PCK2	5106	broad.mit.edu	37	14	24567497	24567497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24567497C>T	ENST00000216780.4	+	3	629	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*|PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	121				Q -> P (in Ref. 1; CAA63380, 2; CAA72272 and 5; AAH01454). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGACACGGTACAACTCCCGCC	0.627																																						ENST00000216780.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(361-363)Caa>Taa		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							58.0	45.0	49.0					14																	24567497		2203	4300	6503	SO:0001587	stop_gained	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24567497C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.361C>T	14.37:g.24567497C>T	ENSP00000216780:p.Gln121*					PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*|NRL_ENST00000561028.1_Intron	p.Q121*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	629	+			121	Q -> P (in Ref. 1; CAA63380, 2; CAA72272 and 5; AAH01454).				O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	37	c.361C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478142	0.96291	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.3507	16.1997	0.82060	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000216780:Q121X	Q	+	1	0	PCK2	23637337	1.000000	0.71417	0.992000	0.48379	0.478000	0.33099	7.487000	0.81328	2.419000	0.82065	0.462000	0.41574	CAA		0.627	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		36	168	0	0	0	1	0	36	168				
USP33	23032	broad.mit.edu	37	1	78201795	78201795	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78201795C>T	ENST00000370793.1	-	7	839	c.493G>A	c.(493-495)Gta>Ata	p.V165I	USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000357428.1_Missense_Mutation_p.V165I|USP33_ENST00000370792.3_Missense_Mutation_p.V165I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	165					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCATCAAATACGGCAACCAGA	0.343																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(493-495)Gta>Ata		ubiquitin specific peptidase 33							123.0	120.0	121.0					1																	78201795		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78201795C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.493G>A	1.37:g.78201795C>T	ENSP00000359829:p.Val165Ile					USP33_ENST00000357428.1_Missense_Mutation_p.V165I|USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000370792.3_Missense_Mutation_p.V165I	p.V165I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			7	839	-			165					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.493G>A	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244701	0.59103	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.30714	2.91;2.91;2.91;2.9;1.52	5.17	5.17	0.71159	.	1.261780	0.05306	N	0.523893	T	0.16811	0.0404	L	0.55481	1.735	0.30780	N	0.742131	B;P	0.51351	0.121;0.944	B;B	0.36092	0.044;0.217	T	0.06991	-1.0796	10	0.38643	T	0.18	.	13.3687	0.60701	0.0:0.9237:0.0:0.0763	.	165;165	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	I	134;165;165;165;165	ENSP00000359830:V134I;ENSP00000359829:V165I;ENSP00000350009:V165I;ENSP00000359828:V165I;ENSP00000434441:V165I	ENSP00000350009:V165I	V	-	1	0	USP33	77974383	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.178000	0.58284	2.589000	0.87451	0.491000	0.48974	GTA		0.343	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		70	287	0	0	0	1	0	70	287				
PLXNA2	5362	broad.mit.edu	37	1	208224623	208224623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208224623C>T	ENST00000367033.3	-	16	3896	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1047	IPT/TIG 3.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCTGGCTCGATGCGCTGG	0.597																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3139-3141)Gag>Aag		plexin A2							77.0	66.0	69.0					1																	208224623		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208224623C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3139G>A	1.37:g.208224623C>T	ENSP00000356000:p.Glu1047Lys						p.E1047K	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	16	3896	-			1047			IPT/TIG 3.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3139G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604567	0.87157	.	.	ENSG00000076356	ENST00000367033	T	0.77489	-1.1	5.09	5.09	0.68999	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.048539	0.85682	D	0.000000	T	0.80265	0.4591	L	0.56396	1.775	0.80722	D	1	D	0.59767	0.986	P	0.51742	0.678	T	0.76429	-0.2962	10	0.12766	T	0.61	.	18.5087	0.90907	0.0:1.0:0.0:0.0	.	1047	O75051	PLXA2_HUMAN	K	1047	ENSP00000356000:E1047K	ENSP00000356000:E1047K	E	-	1	0	PLXNA2	206291246	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	7.485000	0.81204	2.363000	0.80096	0.557000	0.71058	GAG		0.597	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		44	262	0	0	0	1	0	44	262				
DSE	29940	broad.mit.edu	37	6	116747899	116747899	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747899C>T	ENST00000331677.3	+	4	1023	c.579C>T	c.(577-579)taC>taT	p.Y193Y	DSE_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000537543.1_Silent_p.Y212Y|DSE_ENST00000359564.2_Silent_p.Y193Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	193					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAACTTCATACAGGAGAGGAT	0.458																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(577-579)taC>taT		dermatan sulfate epimerase							108.0	95.0	99.0					6																	116747899		2203	4300	6503	SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116747899C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.579C>T	6.37:g.116747899C>T						DSE_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000359564.2_Silent_p.Y193Y|DSE_ENST00000537543.1_Silent_p.Y212Y	p.Y193Y			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	4	1023	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	193					Q5R3K6	Silent	SNP	ENST00000331677.3	37	c.579C>T	CCDS5107.1																																																																																				0.458	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		101	388	0	0	0	1	0	101	388				
ESX1	80712	broad.mit.edu	37	X	103499510	103499510	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103499510G>A	ENST00000372588.4	-	1	104	c.21C>T	c.(19-21)taC>taT	p.Y7Y		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	7					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CACTGTGGGTGTACCCGCGAA	0.587																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(19-21)taC>taT		ESX homeobox 1							172.0	142.0	152.0					X																	103499510		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499510G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.21C>T	X.37:g.103499510G>A							p.Y7Y	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			1	104	-			7					B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.21C>T	CCDS14516.1																																																																																				0.587	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		241	805	0	0	0	1	0	241	805				
TNRC6C	57690	broad.mit.edu	37	17	76089140	76089140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76089140G>A	ENST00000588061.1	+	17	4824	c.4097G>A	c.(4096-4098)aGc>aAc	p.S1366N	TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1363N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1366	Silencing domain; interaction with CNOT1 and PAN3.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTTCCCCATAGCTGGTCACGT	0.517																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(4087-4089)aGc>aAc		trinucleotide repeat containing 6C							66.0	64.0	65.0					17																	76089140		2002	4187	6189	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76089140G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4097G>A	17.37:g.76089140G>A	ENSP00000468647:p.Ser1366Asn					TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N	p.S1363N	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	4657	+			1366					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4088G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171830	0.57584	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16597	2.33;2.35;2.35;2.33	5.97	5.97	0.96955	.	0.038306	0.85682	D	0.000000	T	0.20251	0.0487	L	0.35723	1.085	0.58432	D	0.999999	P;B	0.42409	0.779;0.195	B;B	0.41813	0.367;0.043	T	0.00359	-1.1791	10	0.40728	T	0.16	-26.2854	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1363;1366	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	N	1366;1363;1363;1366;1366;1363	ENSP00000336783:S1363N;ENSP00000301624:S1366N;ENSP00000440310:S1366N;ENSP00000442421:S1363N	ENSP00000301624:S1366N	S	+	2	0	TNRC6C	73600735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.831000	0.97527	0.655000	0.94253	AGC		0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		35	144	0	0	0	1	0	35	144				
NRF1	4899	broad.mit.edu	37	7	129394908	129394908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129394908G>A	ENST00000393232.1	+	11	1516	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T|RNA5SP244_ENST00000390936.1_RNA|NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	467	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCAGCCTCGCCCAGGGCAA	0.612																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1399-1401)Gcc>Acc		nuclear respiratory factor 1							99.0	80.0	86.0					7																	129394908		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129394908G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1399G>A	7.37:g.129394908G>A	ENSP00000376924:p.Ala467Thr					NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T|NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T	p.A467T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			11	1516	+			467			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1399G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589531	0.46214	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.27	5.27	0.74061	Nuclear respiratory factor-1, activation binding domain (1);	0.160042	0.56097	D	0.000034	T	0.30448	0.0765	N	0.08118	0	0.47905	D	0.999543	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.003	T	0.14952	-1.0454	9	0.19590	T	0.45	-12.9813	11.3646	0.49664	0.0828:0.0:0.9172:0.0	.	486;467	Q96AN2;Q16656	.;NRF1_HUMAN	T	467;401;306;467;486;467;486	.	ENSP00000223190:A467T	A	+	1	0	NRF1	129182144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.462000	0.83206	0.561000	0.74099	GCC		0.612	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		20	337	0	0	0	1	0	20	337				
SLC17A3	10786	broad.mit.edu	37	6	25862558	25862558	+	Missense_Mutation	SNP	C	C	A	rs370057568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862558C>A	ENST00000360657.3	-	3	491	c.206G>T	c.(205-207)aGc>aTc	p.S69I	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S69I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	69					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGGGCTTGTGCTGTTGACCAT	0.468																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(205-207)aGc>aTc		solute carrier family 17 (organic anion transporter), member 3		C	ILE/SER,ILE/SER	0,4406		0,0,2203	216.0	167.0	183.0		206,206	-0.3	0.9	6		183	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC17A3	NM_001098486.1,NM_006632.3	142,142	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	69/499,69/421	25862558	1,13005	2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862558C>A	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.206G>T	6.37:g.25862558C>A	ENSP00000353873:p.Ser69Ile					SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S69I	p.S69I	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			3	315	-			69					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.206G>T	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587124	0.28268	0.0	1.16E-4	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64260	0.37;-0.09;-0.09	3.81	-0.328	0.12690	.	0.911600	0.09094	N	0.849515	T	0.52533	0.1740	M	0.69523	2.12	0.20638	N	0.999876	P;D;P;P	0.53151	0.845;0.958;0.828;0.845	B;P;P;B	0.61201	0.298;0.885;0.781;0.298	T	0.42396	-0.9454	10	0.19590	T	0.45	.	4.2789	0.10822	0.0:0.4057:0.3677:0.2265	.	69;50;69;69	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	I	69	ENSP00000380250:S69I;ENSP00000353873:S69I;ENSP00000355307:S69I	ENSP00000353873:S69I	S	-	2	0	SLC17A3	25970537	0.239000	0.23836	0.874000	0.34290	0.911000	0.54048	-0.317000	0.08060	-0.091000	0.12440	0.557000	0.71058	AGC		0.468	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			25	401	1	0	1.85244e-09	1	1.95034e-09	25	401				
CUBN	8029	broad.mit.edu	37	10	16878269	16878269	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16878269C>A	ENST00000377833.4	-	63	10210	c.10145G>T	c.(10144-10146)aGa>aTa	p.R3382I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3382	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTAGAGTTTCTGTTTACAAC	0.378																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10144-10146)aGa>aTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						69.0	69.0	69.0					10																	16878269		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16878269C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10145G>T	10.37:g.16878269C>A	ENSP00000367064:p.Arg3382Ile						p.R3382I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			63	10210	-			3382			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10145G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419323	0.25552	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.34472	1.36	4.89	-2.12	0.07165	CUB (4);	0.986847	0.08229	N	0.977876	T	0.19446	0.0467	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23261	-1.0193	10	0.29301	T	0.29	.	1.7924	0.03054	0.3558:0.1684:0.3245:0.1514	.	3382	O60494	CUBN_HUMAN	I	3382;223	ENSP00000367064:R3382I	ENSP00000367064:R3382I	R	-	2	0	CUBN	16918275	0.000000	0.05858	0.001000	0.08648	0.302000	0.27658	-2.237000	0.01200	-0.517000	0.06461	-0.311000	0.09066	AGA		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		58	237	1	0	2.40265e-35	1	2.8676e-35	58	237				
TMCC3	57458	broad.mit.edu	37	12	94976125	94976125	+	Missense_Mutation	SNP	C	C	T	rs141857063	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976125C>T	ENST00000261226.4	-	2	399	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	90						integral component of membrane (GO:0016021)		p.D90Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACATTCCCATCGCGCGATGTT	0.453													C|||	30	0.00599042	0.0015	0.0	5008	,	,		19454	0.004		0.0	False		,,,				2504	0.0245					ENST00000261226.4																			1	Substitution - Missense(1)	p.D90Y(1)	breast(1)	NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(268-270)Gat>Aat		transmembrane and coiled-coil domain family 3							199.0	185.0	190.0					12																	94976125		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94976125C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.268G>A	12.37:g.94976125C>T	ENSP00000261226:p.Asp90Asn					TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	p.D90N	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	399	-			90					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.268G>A	CCDS31877.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	27.0	4.793782	0.90453	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.60171	0.21;0.21;0.21	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.82823	2.61	0.80722	D	1	D	0.69078	0.997	P	0.60541	0.876	T	0.76035	-0.3106	10	0.52906	T	0.07	-25.4124	20.0555	0.97650	0.0:1.0:0.0:0.0	.	90	Q9ULS5	TMCC3_HUMAN	N	90;59;59	ENSP00000261226:D90N;ENSP00000449888:D59N;ENSP00000450078:D59N	ENSP00000261226:D90N	D	-	1	0	TMCC3	93500256	1.000000	0.71417	0.915000	0.36163	0.932000	0.56968	5.900000	0.69853	2.821000	0.97095	0.485000	0.47835	GAT		0.453	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		144	655	0	0	0	1	0	144	655				
RNF123	63891	broad.mit.edu	37	3	49749963	49749963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49749963G>A	ENST00000327697.6	+	27	2692	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	RNF123_ENST00000433785.1_5'Flank|RNF123_ENST00000432042.1_Missense_Mutation_p.E704K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	850					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCGGACCATTGAGCACGGTGA	0.582																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2548-2550)Gag>Aag		ring finger protein 123							141.0	107.0	118.0					3																	49749963		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49749963G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2548G>A	3.37:g.49749963G>A	ENSP00000328287:p.Glu850Lys					RNF123_ENST00000432042.1_Missense_Mutation_p.E704K	p.E850K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	27	2692	+			850					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.2548G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457635	0.84317	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.75704	-0.66;-0.96	5.91	5.91	0.95273	.	0.047408	0.85682	D	0.000000	T	0.80829	0.4698	L	0.38531	1.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.75861	-0.3168	10	0.25106	T	0.35	-31.0211	19.2739	0.94023	0.0:0.0:1.0:0.0	.	704;850	C9J266;Q5XPI4	.;RN123_HUMAN	K	850;850;704	ENSP00000328287:E850K;ENSP00000392443:E704K	ENSP00000328287:E850K	E	+	1	0	RNF123	49724967	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	9.298000	0.96132	2.803000	0.96430	0.650000	0.86243	GAG		0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		59	228	0	0	0	1	0	59	228				
SKIV2L	6499	broad.mit.edu	37	6	31930244	31930244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930244C>A	ENST00000375394.2	+	11	1206	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	365	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CATCAAGGCCCTGAGCAACCA	0.592																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1093-1095)Ctg>Atg		superkiller viralicidic activity 2-like (S. cerevisiae)							85.0	76.0	79.0					6																	31930244		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930244C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1093C>A	6.37:g.31930244C>A	ENSP00000364543:p.Leu365Met					SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	p.L365M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			11	1206	+			365			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1093C>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753928	0.69648	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47528	0.84;0.84	5.49	3.7	0.42460	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.76428	0.3986	H	0.99806	4.795	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.81581	-0.0867	10	0.87932	D	0	-11.2948	8.7438	0.34573	0.0:0.7618:0.0:0.2382	.	365	Q15477	SKIV2_HUMAN	M	365;207;172	ENSP00000364543:L365M;ENSP00000442645:L172M	ENSP00000364543:L365M	L	+	1	2	SKIV2L	32038223	0.423000	0.25482	0.999000	0.59377	0.996000	0.88848	1.010000	0.29898	0.678000	0.31325	0.655000	0.94253	CTG		0.592	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			64	266	1	0	9.65139e-37	1	1.15646e-36	64	266				
CEBPE	1053	broad.mit.edu	37	14	23587999	23587999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23587999G>A	ENST00000206513.5	-	1	826	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	101					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGCCCCAGCGCCTTCCTGTC	0.701																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(301-303)gCg>gTg		CCAAT/enhancer binding protein (C/EBP), epsilon							24.0	24.0	24.0					14																	23587999		2203	4299	6502	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23587999G>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.302C>T	14.37:g.23587999G>A	ENSP00000206513:p.Ala101Val						p.A101V	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	826	-	all_cancers(95;4.6e-05)		101					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.302C>T	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137234	0.21123	.	.	ENSG00000092067	ENST00000206513	T	0.32023	1.47	4.51	2.57	0.30868	.	0.398028	0.23991	N	0.042566	T	0.13372	0.0324	N	0.08118	0	0.22253	N	0.999259	B	0.13145	0.007	B	0.08055	0.003	T	0.26189	-1.0110	10	0.12766	T	0.61	-9.1206	9.9605	0.41693	0.0907:0.1529:0.7564:0.0	.	101	Q15744	CEBPE_HUMAN	V	101	ENSP00000206513:A101V	ENSP00000206513:A101V	A	-	2	0	CEBPE	22657839	0.999000	0.42202	0.806000	0.32338	0.994000	0.84299	2.808000	0.47963	1.094000	0.41399	0.561000	0.74099	GCG		0.701	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		38	170	0	0	0	1	0	38	170				
INSM2	84684	broad.mit.edu	37	14	36004387	36004387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004387G>A	ENST00000307169.3	+	1	1140	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCCTCCCATCGCCGCTGGCAT	0.682																																						ENST00000307169.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10						c.(928-930)cGc>cAc		insulinoma-associated 2							26.0	30.0	29.0					14																	36004387		2203	4296	6499	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004387G>A	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.929G>A	14.37:g.36004387G>A	ENSP00000306523:p.Arg310His						p.R310H	NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1140	+	Breast(36;0.122)|Hepatocellular(127;0.158)		310					A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	c.929G>A	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964553	0.92791	.	.	ENSG00000168348	ENST00000307169	T	0.52057	0.68	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32655	N	0.005812	T	0.60431	0.2268	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63571	-0.6607	10	0.62326	D	0.03	-21.8935	16.9569	0.86262	0.0:0.0:1.0:0.0	.	310	Q96T92	INSM2_HUMAN	H	310	ENSP00000306523:R310H	ENSP00000306523:R310H	R	+	2	0	INSM2	35074138	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.351000	0.97073	2.269000	0.75478	0.563000	0.77884	CGC		0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			33	291	0	0	0	1	0	33	291				
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443																																						ENST00000295213.4																			2	Substitution - Missense(2)	p.K404N(2)	lung(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1210-1212)aaG>aaT		spermatogenesis associated 18							289.0	270.0	277.0					4																	52945942		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945942G>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1212G>T	4.37:g.52945942G>T	ENSP00000295213:p.Lys404Asn					SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	p.K404N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		9	1586	+			404					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1212G>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559194	0.65538	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34859	1.34;3.69	5.4	5.4	0.78164	.	0.318068	0.38326	N	0.001736	T	0.52322	0.1727	L	0.55481	1.735	0.43647	D	0.996057	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.51474	-0.8701	10	0.66056	D	0.02	-28.9994	9.989	0.41858	0.089:0.0:0.911:0.0	.	372;404;404	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	404;372	ENSP00000295213:K404N;ENSP00000415309:K372N	ENSP00000295213:K404N	K	+	3	2	SPATA18	52640699	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.347000	0.44036	2.814000	0.96858	0.655000	0.94253	AAG		0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		246	1108	1	0	5.91303e-76	1	7.54278e-76	246	1108				
ZNF16	7564	broad.mit.edu	37	8	146156950	146156950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146156950T>G	ENST00000276816.4	-	4	1409	c.1223A>C	c.(1222-1224)aAt>aCt	p.N408T	ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	408					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCCACAATCATTACACTCATA	0.527																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1222-1224)aAt>aCt		zinc finger protein 16							98.0	92.0	94.0					8																	146156950		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156950T>G	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1223A>C	8.37:g.146156950T>G	ENSP00000276816:p.Asn408Thr					ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	p.N408T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1409	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	408					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1223A>C	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	T	6.663	0.490788	0.12702	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17054	2.3;2.3	3.88	0.141	0.14811	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.05467	-0.045	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	T	0.23904	-1.0175	9	0.48119	T	0.1	.	4.232	0.10608	0.0:0.3157:0.1749:0.5093	.	408	P17020	ZNF16_HUMAN	T	408	ENSP00000276816:N408T;ENSP00000378369:N408T	ENSP00000276816:N408T	N	-	2	0	ZNF16	146127754	0.000000	0.05858	0.084000	0.20598	0.929000	0.56500	-1.587000	0.02108	-0.142000	0.11354	-0.464000	0.05259	AAT		0.527	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		74	312	0	0	0	1	0	74	312				
CEP68	23177	broad.mit.edu	37	2	65296585	65296585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65296585C>T	ENST00000377990.2	+	2	210	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	CEP68_ENST00000546106.1_Silent_p.L3L|CEP68_ENST00000260569.4_Silent_p.L3L|CEP68_ENST00000537589.1_Intron|RAB1A_ENST00000494188.1_5'Flank	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	3					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCAATGGCCCTGGGTGAAGA	0.527																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(7-9)Ctg>Ttg		centrosomal protein 68kDa							69.0	81.0	77.0					2																	65296585		2197	4274	6471	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65296585C>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.7C>T	2.37:g.65296585C>T						CEP68_ENST00000260569.4_Silent_p.L3L|CEP68_ENST00000546106.1_Silent_p.L3L|CEP68_ENST00000537589.1_Intron	p.L3L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			2	210	+			3					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.7C>T	CCDS1880.2																																																																																				0.527	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		86	559	0	0	0	1	0	86	559				
TAS1R2	80834	broad.mit.edu	37	1	19181132	19181132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19181132C>T	ENST00000375371.3	-	3	853	c.832G>A	c.(832-834)Gac>Aac	p.D278N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	278					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGGTCAGGTCGGGCGAGAAC	0.632																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(832-834)Gac>Aac		taste receptor, type 1, member 2	Aspartame(DB00168)						63.0	57.0	59.0					1																	19181132		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181132C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.832G>A	1.37:g.19181132C>T	ENSP00000364520:p.Asp278Asn					RP13-279N23.2_ENST00000494072.3_3'UTR	p.D278N	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	853	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	278					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.832G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091015	0.55968	.	.	ENSG00000179002	ENST00000375371	D	0.82984	-1.67	4.99	4.99	0.66335	Extracellular ligand-binding receptor (1);	0.820936	0.10616	N	0.653957	D	0.86481	0.5943	L	0.43152	1.355	0.28072	N	0.93254	D	0.69078	0.997	P	0.62560	0.904	T	0.77354	-0.2619	10	0.18710	T	0.47	.	15.8175	0.78615	0.0:1.0:0.0:0.0	.	278	Q8TE23	TS1R2_HUMAN	N	278	ENSP00000364520:D278N	ENSP00000364520:D278N	D	-	1	0	TAS1R2	19053719	0.004000	0.15560	0.173000	0.22940	0.028000	0.11728	0.976000	0.29462	2.607000	0.88179	0.561000	0.74099	GAC		0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			18	173	0	0	0	1	0	18	173				
KMT2B	9757	broad.mit.edu	37	19	36212526	36212526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36212526G>T	ENST00000222270.7	+	3	2277	c.2277G>T	c.(2275-2277)caG>caT	p.Q759H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.Q759H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	759	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CACAGCCACAGCTGCAGCCAC	0.642																																						ENST00000222270.7																			0											c.(2275-2277)caG>caT									19.0	32.0	28.0					19																	36212526		2144	4260	6404	SO:0001583	missense	0							g.chr19:36212526G>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2277G>T	19.37:g.36212526G>T	ENSP00000222270:p.Gln759His					WBP7_ENST00000420124.1_Missense_Mutation_p.Q759H|KMT2B_ENST00000607650.1_RNA	p.Q759H	NM_014727.1	NP_055542.1					3	2277	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2277G>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939157	0.18281	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83755	-1.76;-1.76	5.02	-3.13	0.05266	.	0.264721	0.19987	N	0.101654	T	0.65365	0.2684	N	0.14661	0.345	0.09310	N	1	P	0.34462	0.454	B	0.34722	0.188	T	0.59495	-0.7444	10	0.49607	T	0.09	.	10.02	0.42037	0.6057:0.0:0.3943:0.0	.	759	Q9UMN6	MLL4_HUMAN	H	759	ENSP00000222270:Q759H;ENSP00000398837:Q759H	ENSP00000222270:Q759H	Q	+	3	2	AD000671.1	40904366	0.000000	0.05858	0.016000	0.15963	0.571000	0.35966	-0.882000	0.04174	-0.315000	0.08703	0.442000	0.29010	CAG		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		36	171	1	0	3.03874e-20	1	3.40186e-20	36	171				
GLTSCR1	29998	broad.mit.edu	37	19	48183836	48183836	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48183836A>G	ENST00000396720.3	+	6	1603	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	470										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCGGGCCAGAACCAGTTCCTA	0.721																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(1408-1410)aAc>aGc		glioma tumor suppressor candidate region gene 1							17.0	22.0	20.0					19																	48183836		2058	4184	6242	SO:0001583	missense	29998						protein binding	g.chr19:48183836A>G	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.1409A>G	19.37:g.48183836A>G	ENSP00000379946:p.Asn470Ser					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.N470S	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	6	1603	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	470					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.1409A>G	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	a	9.517	1.107398	0.20714	.	.	ENSG00000063169	ENST00000396720	T	0.56103	0.48	4.6	1.12	0.20585	.	.	.	.	.	T	0.37404	0.1002	L	0.42245	1.32	0.30381	N	0.781977	B	0.18310	0.027	B	0.16289	0.015	T	0.29971	-0.9994	9	0.31617	T	0.26	.	2.8672	0.05605	0.6258:0.1483:0.0831:0.1428	.	470	Q9NZM4	GSCR1_HUMAN	S	470	ENSP00000379946:N470S	ENSP00000379946:N470S	N	+	2	0	GLTSCR1	52875648	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	4.857000	0.62939	0.160000	0.19432	-0.494000	0.04653	AAC		0.721	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		19	91	0	0	0	1	0	19	91				
KCNG3	170850	broad.mit.edu	37	2	42720563	42720563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720563G>T	ENST00000306078.1	-	1	674	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	KCNG3_ENST00000394973.4_Missense_Mutation_p.L27M|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	27					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AAGTCCTTCAGCAGCTCCCGG	0.726																																						ENST00000306078.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.(79-81)Ctg>Atg		potassium voltage-gated channel, subfamily G, member 3							10.0	11.0	10.0					2																	42720563		2136	4192	6328	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42720563G>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.79C>A	2.37:g.42720563G>T	ENSP00000304127:p.Leu27Met					KCNG3_ENST00000394973.4_Missense_Mutation_p.L27M	p.L27M	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN			1	674	-			27					Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.79C>A	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268667	0.40095	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	T;T	0.69561	-0.41;-0.41	3.31	1.22	0.21188	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.355130	0.27730	N	0.018099	T	0.59878	0.2226	M	0.76727	2.345	0.28499	N	0.914113	B;B	0.30763	0.294;0.115	B;B	0.29942	0.109;0.046	T	0.59343	-0.7472	10	0.87932	D	0	.	4.8286	0.13428	0.2219:0.0:0.6048:0.1734	.	27;27	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	M	27	ENSP00000304127:L27M;ENSP00000378424:L27M	ENSP00000304127:L27M	L	-	1	2	KCNG3	42574067	0.998000	0.40836	0.970000	0.41538	0.996000	0.88848	1.124000	0.31320	0.583000	0.29574	0.462000	0.41574	CTG		0.726	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		19	40	1	0	3.51602e-12	1	3.76992e-12	19	40				
PMS1	5378	broad.mit.edu	37	2	190742119	190742119	+	Missense_Mutation	SNP	G	G	A	rs147566508	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190742119G>A	ENST00000441310.2	+	13	2989	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	PMS1_ENST00000447232.2_Missense_Mutation_p.R757H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H|PMS1_ENST00000418224.3_Missense_Mutation_p.R743H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	919					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTCATGGTCGCCCATTTTTT	0.328			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					G|||	3	0.000599042	0.0023	0.0	5008	,	,		18981	0.0		0.0	False		,,,				2504	0.0					ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2755-2757)cGc>cAc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	114.0	112.0	113.0		2756,2639,2270	5.8	1.0	2	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense	PMS1	NM_000534.4,NM_001128143.1,NM_001128144.1	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	919/933,880/894,757/771	190742119	2,13004	2203	4300	6503	SO:0001583	missense	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190742119G>A		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2756G>A	2.37:g.190742119G>A	ENSP00000406490:p.Arg919His					PMS1_ENST00000418224.3_Missense_Mutation_p.R743H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H|PMS1_ENST00000447232.2_Missense_Mutation_p.R757H	p.R919H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		13	2989	+			919					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2756G>A	CCDS2302.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.78	3.472864	0.63737	4.54E-4	0.0	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593	D;D;D;D;D;D	0.97752	-2.89;-2.69;-3.08;-3.29;-2.69;-4.52	5.76	5.76	0.90799	.	0.101764	0.64402	D	0.000001	D	0.96568	0.8880	L	0.47190	1.495	0.45216	D	0.998228	B;D;D;D;D	0.57257	0.066;0.977;0.979;0.978;0.963	B;P;B;B;B	0.48654	0.01;0.585;0.363;0.299;0.363	D	0.96294	0.9216	10	0.87932	D	0	-6.5663	13.5255	0.61593	0.0713:0.0:0.9287:0.0	.	235;542;880;757;919	Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;PMS1_HUMAN	H	919;743;880;757;743;542	ENSP00000406490:R919H;ENSP00000404492:R743H;ENSP00000387125:R880H;ENSP00000401064:R757H;ENSP00000398378:R743H;ENSP00000387169:R542H	ENSP00000387169:R542H	R	+	2	0	PMS1	190450364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.657000	0.67996	2.882000	0.98803	0.655000	0.94253	CGC		0.328	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			59	170	0	0	0	1	0	59	170				
TMEM132B	114795	broad.mit.edu	37	12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	297						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(889-891)Gcc>Acc		transmembrane protein 132B							191.0	181.0	184.0					12																	125834834		1964	4134	6098	SO:0001583	missense	114795					integral to membrane		g.chr12:125834834G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.889G>A	12.37:g.125834834G>A	ENSP00000299308:p.Ala297Thr						p.A297T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	897	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		297					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.889G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417556	0.62622	.	.	ENSG00000139364	ENST00000299308	T	0.11930	2.73	5.34	4.45	0.53987	.	.	.	.	.	T	0.14787	0.0357	L	0.50333	1.59	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02588	-1.1137	9	0.35671	T	0.21	.	13.9468	0.64089	0.0728:0.0:0.9272:0.0	.	297	Q14DG7	T132B_HUMAN	T	297	ENSP00000299308:A297T	ENSP00000299308:A297T	A	+	1	0	TMEM132B	124400787	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	5.483000	0.66838	1.250000	0.43966	0.655000	0.94253	GCC		0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		203	863	0	0	0	1	0	203	863				
OTUD3	23252	broad.mit.edu	37	1	20216981	20216981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20216981G>T	ENST00000375120.3	+	2	326	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	109	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGGGAAGATTTTGAACC	0.438																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(325-327)Gat>Tat		OTU domain containing 3							211.0	203.0	205.0					1																	20216981		1979	4165	6144	SO:0001583	missense	23252							g.chr1:20216981G>T	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.325G>T	1.37:g.20216981G>T	ENSP00000364261:p.Asp109Tyr					OTUD3_ENST00000466697.1_3'UTR	p.D109Y	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	326	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	109			OTU.		O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.325G>T	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943063	0.53079	.	.	ENSG00000169914	ENST00000375120	T	0.43294	0.95	5.23	4.32	0.51571	Ovarian tumour, otubain (2);	0.045448	0.85682	D	0.000000	T	0.33818	0.0876	L	0.53671	1.685	0.58432	D	0.999999	B	0.22604	0.072	B	0.26517	0.07	T	0.12811	-1.0533	10	0.02654	T	1	.	11.2403	0.48966	0.0867:0.0:0.9133:0.0	.	109	Q5T2D3	OTUD3_HUMAN	Y	109	ENSP00000364261:D109Y	ENSP00000364261:D109Y	D	+	1	0	OTUD3	20089568	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.894000	0.92506	1.348000	0.45733	0.536000	0.68110	GAT		0.438	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			152	522	1	0	3.7336e-74	1	4.75615e-74	152	522				
LAMA2	3908	broad.mit.edu	37	6	129687457	129687457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687457C>T	ENST00000421865.2	+	33	4860	c.4811C>T	c.(4810-4812)gCg>gTg	p.A1604V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1604	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGCTGCCTGCGCCATATAAA	0.512																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4810-4812)gCg>gTg		laminin, alpha 2							89.0	78.0	82.0					6																	129687457		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129687457C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4811C>T	6.37:g.129687457C>T	ENSP00000400365:p.Ala1604Val						p.A1604V	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	33	4860	+			1604			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4811C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710739	0.30322	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.11063	2.81	5.05	4.18	0.49190	Laminin I (1);	0.125811	0.56097	N	0.000037	T	0.08223	0.0205	L	0.32530	0.975	0.37433	D	0.914102	D;D	0.67145	0.996;0.992	P;P	0.56700	0.804;0.772	T	0.24154	-1.0168	10	0.31617	T	0.26	.	11.8454	0.52381	0.0:0.919:0.0:0.081	.	1604;1604	A6NF00;P24043	.;LAMA2_HUMAN	V	1604	ENSP00000400365:A1604V	ENSP00000346769:A1604V	A	+	2	0	LAMA2	129729150	1.000000	0.71417	0.997000	0.53966	0.507000	0.33981	4.074000	0.57577	1.259000	0.44117	0.655000	0.94253	GCG		0.512	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			53	206	0	0	0	1	0	53	206				
CDKN2AIP	55602	broad.mit.edu	37	4	184368400	184368400	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184368400A>T	ENST00000504169.1	+	3	1770	c.1563A>T	c.(1561-1563)gaA>gaT	p.E521D	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	521	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAGCAAAGAAAATGCAAAAG	0.378																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(1561-1563)gaA>gaT		CDKN2A interacting protein							96.0	100.0	99.0					4																	184368400		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184368400A>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1563A>T	4.37:g.184368400A>T	ENSP00000427108:p.Glu521Asp					CDKN2AIP_ENST00000302350.4_3'UTR	p.E521D	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	1770	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	521			DRBM.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.1563A>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253071	0.22965	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.36	1.63	0.23807	Double-stranded RNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.44767	0.1309	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.35276	-0.9795	9	0.38643	T	0.18	-18.9966	8.8164	0.34998	0.6934:0.0:0.3066:0.0	.	521	Q9NXV6	CARF_HUMAN	D	521	.	ENSP00000427108:E521D	E	+	3	2	CDKN2AIP	184605394	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.661000	0.25023	0.482000	0.27582	0.459000	0.35465	GAA		0.378	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		56	351	0	0	0	1	0	56	351				
SPTB	6710	broad.mit.edu	37	14	65249188	65249188	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65249188G>A	ENST00000389721.5	-	19	4118	c.4086C>T	c.(4084-4086)gaC>gaT	p.D1362D	SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000389722.3_Silent_p.D1362D	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1362					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCTCGTCCCAGAGCC	0.597																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4084-4086)gaC>gaT		spectrin, beta, erythrocytic							105.0	109.0	108.0					14																	65249188		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65249188G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4086C>T	14.37:g.65249188G>A						SPTB_ENST00000389721.5_Silent_p.D1362D|SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D	p.D1362D	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	19	4139	-		all_lung(585;4.15e-09)	1362					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4086C>T	CCDS32100.1																																																																																				0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			157	753	0	0	0	1	0	157	753				
GBA3	57733	broad.mit.edu	37	4	22820391	22820391	+	RNA	SNP	C	C	T	rs186578587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22820391C>T	ENST00000503442.1	+	0	425				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCATGGTCTCTTCTGGATAA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18964	0.001		0.0	False		,,,				2504	0.0					ENST00000511446.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							83.0	74.0	77.0					4																	22820391		1869	4100	5969			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22820391C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820391C>T						GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	1258	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			6	142	0	0	0	1	0	6	142				
PRSS3P2	154754	broad.mit.edu	37	7	142480062	142480062	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142480062A>G	ENST00000603901.1	+	0	194					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCACTGCTACAAGCCGTAA	0.572																																						ENST00000603901.1																			0																				29.0	26.0	27.0					7																	142480062		692	1591	2283			0							g.chr7:142480062A>G			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142480062A>G								NR_001296.3						0	194	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		37	343	0	0	0	1	0	37	343				
ZNF750	79755	broad.mit.edu	37	17	80788752	80788752	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80788752G>T	ENST00000269394.3	-	3	2271	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	ZNF750_ENST00000572562.1_Splice_Site_p.L81I|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	480					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACAACATTGAGGCTAGAAGAA	0.572																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.e3-1		zinc finger protein 750							27.0	32.0	30.0					17																	80788752		2130	4188	6318	SO:0001630	splice_region_variant	79755					intracellular	zinc ion binding	g.chr17:80788752G>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1437-1C>A	17.37:g.80788752G>T						TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Splice_Site_p.L81_splice|TBCD_ENST00000355528.4_Intron	p.L480_splice	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2271	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	480					Q9H899	Splice_Site	SNP	ENST00000269394.3	37	c.1436_splice	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	5.398	0.258545	0.10239	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.14266	2.52	4.75	3.71	0.42584	.	0.226724	0.30528	N	0.009436	T	0.09512	0.0234	L	0.41079	1.255	0.28812	N	0.898152	B	0.26602	0.154	B	0.23716	0.048	T	0.09596	-1.0667	9	.	.	.	-20.9973	5.1242	0.14876	0.1122:0.0:0.5721:0.3158	.	480	Q32MQ0	ZN750_HUMAN	I	480;81	ENSP00000269394:L480I	.	L	-	1	0	ZNF750	78382041	1.000000	0.71417	0.969000	0.41365	0.262000	0.26303	1.466000	0.35310	2.197000	0.70478	0.655000	0.94253	CTC		0.572	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702	Missense_Mutation	79	280	1	0	6.01781e-45	1	7.37136e-45	79	280				
SLC24A2	25769	broad.mit.edu	37	9	19786640	19786640	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19786640G>A	ENST00000341998.2	-	1	286	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SLC24A2_ENST00000286344.3_Silent_p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	75					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACCCTAGGGCCACTTACAA	0.453																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(223-225)ggC>ggT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							96.0	99.0	98.0					9																	19786640		2203	4300	6503	SO:0001819	synonymous_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786640G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.225C>T	9.37:g.19786640G>A						SLC24A2_ENST00000286344.3_Silent_p.G75G	p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	286	-			75					B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	37	c.225C>T	CCDS6493.1																																																																																				0.453	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		22	425	0	0	0	1	0	22	425				
POLR1B	84172	broad.mit.edu	37	2	113315647	113315647	+	Missense_Mutation	SNP	G	G	A	rs369255960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113315647G>A	ENST00000263331.5	+	8	1899	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	440					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGAATCTGCGTTCTAAAACA	0.343																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1318-1320)cGt>cAt		polymerase (RNA) I polypeptide B, 128kDa		G	HIS/ARG,HIS/ARG	0,4404		0,0,2202	78.0	80.0	79.0		1151,1319	6.0	1.0	2		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	POLR1B	NM_001137604.1,NM_019014.4	29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	384/1080,440/1136	113315647	1,13003	2202	4300	6502	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113315647G>A	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1319G>A	2.37:g.113315647G>A	ENSP00000263331:p.Arg440His					POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H	p.R440H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			8	1899	+			440					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.1319G>A	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937416	0.73557	0.0	1.16E-4	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	6.04	6.04	0.98038	.	0.264671	0.44688	D	0.000436	D	0.82370	0.5022	L	0.61387	1.9	0.44702	D	0.997695	D;P;D	0.57899	0.981;0.561;0.968	P;B;B	0.50617	0.646;0.052;0.365	T	0.81236	-0.1024	10	0.42905	T	0.14	-19.4875	19.3507	0.94384	0.0:0.0:1.0:0.0	.	478;384;440	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	H	440;478;229;384	ENSP00000263331:R440H;ENSP00000444136:R478H;ENSP00000437914:R229H;ENSP00000405358:R384H	ENSP00000263331:R440H	R	+	2	0	POLR1B	113032118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.406000	0.59748	2.873000	0.98535	0.561000	0.74099	CGT		0.343	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		24	188	0	0	0	1	0	24	188				
DZIP1L	199221	broad.mit.edu	37	3	137783593	137783593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137783593C>T	ENST00000327532.2	-	15	2381	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	673					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTTTGACCATCGACTGCACCA	0.517																																						ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(2017-2019)tcG>tcA		DAZ interacting zinc finger protein 1-like							145.0	157.0	153.0					3																	137783593		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137783593C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2019G>A	3.37:g.137783593C>T							p.S673S	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			15	2381	-			673					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.2019G>A	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281852	0.01398	.	.	ENSG00000158163	ENST00000486487	.	.	.	4.93	-9.57	0.00562	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.30303	N	0.789263	.	.	.	.	.	.	T	0.33266	-0.9875	4	.	.	.	-4.4106	9.158	0.37005	0.0:0.1371:0.3222:0.5406	.	.	.	.	N	43	.	.	D	-	1	0	DZIP1L	139266283	0.002000	0.14202	0.059000	0.19551	0.067000	0.16453	-2.142000	0.01298	-1.733000	0.01357	-0.794000	0.03295	GAT		0.517	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		227	1073	0	0	0	1	0	227	1073				
FNDC3A	22862	broad.mit.edu	37	13	49762718	49762718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49762718C>T	ENST00000492622.2	+	17	2198	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	FNDC3A_ENST00000398316.3_Silent_p.G575G|FNDC3A_ENST00000541916.1_Silent_p.G631G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	631	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGAATCCAGGCTGTTTCTATC	0.393																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(1891-1893)ggC>ggT		fibronectin type III domain containing 3A							351.0	311.0	325.0					13																	49762718		2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49762718C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1893C>T	13.37:g.49762718C>T						FNDC3A_ENST00000541916.1_Silent_p.G631G|FNDC3A_ENST00000398316.3_Silent_p.G575G	p.G631G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	17	2198	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	631			Fibronectin type-III 4.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.1893C>T	CCDS41886.1																																																																																				0.393	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		30	1095	0	0	0	1	0	30	1095				
OR51D1	390038	broad.mit.edu	37	11	4661207	4661207	+	Missense_Mutation	SNP	C	C	T	rs375185822		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661207C>T	ENST00000357605.2	+	1	263	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATCATTCGTGTGGAGAG	0.542																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(187-189)Cgt>Tgt		olfactory receptor, family 51, subfamily D, member 1		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	195.0	146.0	163.0		187	3.0	0.1	11		163	0,8596		0,0,4298	no	missense	OR51D1	NM_001004751.2	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	63/325	4661207	1,12997	2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661207C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.187C>T	11.37:g.4661207C>T	ENSP00000350222:p.Arg63Cys						p.R63C	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	263	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	63					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.187C>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705514	0.15172	2.27E-4	0.0	ENSG00000197428	ENST00000357605	T	0.02103	4.45	4.84	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.151118	0.31199	N	0.008062	T	0.02767	0.0083	L	0.48218	1.51	0.26647	N	0.972176	D	0.53462	0.96	P	0.45913	0.497	T	0.42344	-0.9457	10	0.40728	T	0.16	.	3.5858	0.07970	0.2943:0.4799:0.1431:0.0827	.	63	Q8NGF3	O51D1_HUMAN	C	63	ENSP00000350222:R63C	ENSP00000350222:R63C	R	+	1	0	OR51D1	4617783	0.000000	0.05858	0.106000	0.21319	0.002000	0.02628	-0.294000	0.08309	0.728000	0.32382	0.563000	0.77884	CGT		0.542	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		77	304	0	0	0	1	0	77	304				
FZD2	2535	broad.mit.edu	37	17	42636670	42636670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42636670G>T	ENST00000315323.3	+	1	1746	c.1614G>T	c.(1612-1614)tgG>tgT	p.W538C		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	538					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGGCTTCTGGATCTGGTCGG	0.627																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1612-1614)tgG>tgT		frizzled family receptor 2							32.0	31.0	31.0					17																	42636670		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636670G>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1614G>T	17.37:g.42636670G>T	ENSP00000323901:p.Trp538Cys						p.W538C	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1746	+		Prostate(33;0.0181)	538					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1614G>T	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	18.33	3.599520	0.66332	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.91464	-2.85	4.86	4.86	0.63082	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98737	1.0715	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	538	Q14332	FZD2_HUMAN	C	614;538	ENSP00000323901:W538C	ENSP00000323901:W538C	W	+	3	0	FZD2	39992196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.866000	0.99616	2.236000	0.73375	0.555000	0.69702	TGG		0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		6	177	1	0	0.00116845	1	0.00118049	6	177				
KDM1B	221656	broad.mit.edu	37	6	18215342	18215342	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215342G>T	ENST00000297792.5	+	16	1695	c.1518G>T	c.(1516-1518)cgG>cgT	p.R506R	KDM1B_ENST00000546309.2_Silent_p.R29R|KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000388870.2_Silent_p.R739R			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	738					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CCACGCTCCGGGAGCTGTTCA	0.607																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2215-2217)cgG>cgT		lysine (K)-specific demethylase 1B							52.0	50.0	51.0					6																	18215342		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18215342G>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1518G>T	6.37:g.18215342G>T						KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000546309.2_Silent_p.R29R|KDM1B_ENST00000297792.5_Silent_p.R506R	p.R739R			Q8NB78	KDM1B_HUMAN			20	2458	+			738					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.2217G>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234472	0.22626	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.99	3.09	0.35607	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15549	-1.0433	4	.	.	.	-16.0584	3.8774	0.09062	0.1203:0.4065:0.3342:0.139	.	.	.	.	V	556	.	.	G	+	2	0	KDM1B	18323321	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.073000	0.30691	0.352000	0.24053	0.650000	0.86243	GGG		0.607	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		29	169	1	0	2.61193e-14	1	2.83483e-14	29	169				
WDPCP	51057	broad.mit.edu	37	2	63815400	63815400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63815400C>T	ENST00000272321.7	-	1	533	c.6G>A	c.(4-6)agG>agA	p.R2R	MDH1_ENST00000539945.1_5'Flank|WDPCP_ENST00000409562.3_Silent_p.R2R|MDH1_ENST00000544381.1_5'Flank|MDH1_ENST00000233114.8_5'Flank|WDPCP_ENST00000409835.1_5'UTR|MDH1_ENST00000409476.1_5'Flank|MDH1_ENST00000409908.1_5'Flank	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	2					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AAAACTCTCGCCTCATCACCA	0.642																																						ENST00000409562.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(4-6)agG>agA		WD repeat containing planar cell polarity effector							25.0	30.0	28.0					2																	63815400		1987	4162	6149	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63815400C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.6G>A	2.37:g.63815400C>T						WDPCP_ENST00000272321.7_Silent_p.R2R|WDPCP_ENST00000409835.1_5'UTR	p.R2R			O95876	FRITZ_HUMAN			1	252	-			2					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.6G>A	CCDS42688.1																																																																																				0.642	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		10	34	0	0	0	1	0	10	34				
SLITRK4	139065	broad.mit.edu	37	X	142716967	142716967	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142716967T>C	ENST00000381779.4	-	2	2183	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	653						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTTCGTGCTTCACTGT	0.448																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1957-1959)cAc>cGc		SLIT and NTRK-like family, member 4							111.0	113.0	112.0					X																	142716967		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716967T>C	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1958A>G	X.37:g.142716967T>C	ENSP00000371198:p.His653Arg					SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R	p.H653R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2183	-	Acute lymphoblastic leukemia(192;6.56e-05)		653					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1958A>G	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	4.134	0.023160	0.08006	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.36	5.36	0.76844	.	0.066272	0.64402	U	0.000009	T	0.34600	0.0903	L	0.29908	0.895	0.58432	D	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.13791	-1.0496	10	0.15952	T	0.53	-10.4493	13.1266	0.59358	0.0:0.0:0.0:1.0	.	653	Q8IW52	SLIK4_HUMAN	R	653	ENSP00000371198:H653R;ENSP00000349400:H653R;ENSP00000336627:H653R	ENSP00000336627:H653R	H	-	2	0	SLITRK4	142544633	1.000000	0.71417	0.910000	0.35882	0.933000	0.57130	6.298000	0.72763	1.781000	0.52344	0.417000	0.27973	CAC		0.448	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		166	641	0	0	0	1	0	166	641				
HSD17B1	3292	broad.mit.edu	37	17	40706547	40706547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40706547C>T	ENST00000585807.1	+	5	4384	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	222					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	ATACCTCGCCCACAGCAAGCA	0.657																																						ENST00000585807.1																			0				NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(664-666)Cac>Tac		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						61.0	45.0	51.0					17																	40706547		2203	4300	6503	SO:0001583	missense	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40706547C>T		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.664C>T	17.37:g.40706547C>T	ENSP00000466799:p.His222Tyr					RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y	p.H222Y	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	4384	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	222					B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.664C>T	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522978	0.44866	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.02	3.02	0.34903	NAD(P)-binding domain (1);	0.244344	0.40469	N	0.001096	T	0.54431	0.1858	L	0.31371	0.925	0.36520	D	0.870089	D;B	0.76494	0.999;0.065	D;B	0.64506	0.926;0.018	T	0.59925	-0.7362	9	0.46703	T	0.11	.	9.1585	0.37007	0.0:0.7638:0.2362:0.0	.	253;222	B3RFR9;P14061	.;DHB1_HUMAN	Y	222	.	ENSP00000225929:H222Y	H	+	1	0	HSD17B1	37960073	0.079000	0.21365	0.014000	0.15608	0.003000	0.03518	0.645000	0.24782	0.858000	0.35431	0.491000	0.48974	CAC		0.657	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		5	191	0	0	0	1	0	5	191				
FTO	79068	broad.mit.edu	37	16	54145726	54145726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54145726C>T	ENST00000471389.1	+	9	1639	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000431610.2_Missense_Mutation_p.R74W|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W|FTO_ENST00000472835.1_3'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	473					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAATGTCGGCCATACTG	0.488																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1417-1419)Cgg>Tgg		fat mass and obesity associated							227.0	213.0	218.0					16																	54145726		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:54145726C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1417C>T	16.37:g.54145726C>T	ENSP00000418823:p.Arg473Trp					FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000472835.1_3'UTR|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W|FTO_ENST00000431610.2_Missense_Mutation_p.R74W	p.R473W	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			9	1639	+			473					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.1417C>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241272	0.39598	.	.	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894;ENST00000463855;ENST00000268349	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.66	2.11	0.27256	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.624461	0.15337	N	0.267712	T	0.26376	0.0644	N	0.21448	0.665	0.39046	D	0.960224	B	0.17268	0.021	B	0.10450	0.005	T	0.09378	-1.0677	10	0.49607	T	0.09	-7.0723	6.9537	0.24560	0.1305:0.6562:0.0:0.2133	.	473	Q9C0B1	FTO_HUMAN	W	473;177;74;74;74;95;28	ENSP00000418823:R473W;ENSP00000378142:R177W;ENSP00000415636:R74W;ENSP00000417422:R74W;ENSP00000417843:R95W	ENSP00000268349:R28W	R	+	1	2	FTO	52703227	0.975000	0.34042	0.516000	0.27786	0.934000	0.57294	1.033000	0.30191	0.714000	0.32081	0.655000	0.94253	CGG		0.488	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		47	1226	0	0	0	1	0	47	1226				
UNC5D	137970	broad.mit.edu	37	8	35406991	35406991	+	Silent	SNP	C	C	T	rs77010935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35406991C>T	ENST00000404895.2	+	2	613	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC5D_ENST00000420357.1_Silent_p.N95N|UNC5D_ENST00000416672.1_Silent_p.N95N|UNC5D_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000287272.2_Silent_p.N95N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	95	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCATCAGAACGAGCACGTCT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18834	0.0		0.001	False		,,,				2504	0.0					ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(283-285)aaC>aaT		unc-5 homolog D (C. elegans)		C		5,4401	9.9+/-24.2	0,5,2198	52.0	47.0	48.0		285	0.6	1.0	8	dbSNP_132	48	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	UNC5D	NM_080872.2		0,14,6489	TT,TC,CC		0.1047,0.1135,0.1076		95/954	35406991	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406991C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.285C>T	8.37:g.35406991C>T						UNC5D_ENST00000404895.2_Silent_p.N95N|UNC5D_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000420357.1_Silent_p.N95N|UNC5D_ENST00000416672.1_Silent_p.N95N	p.N95N			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	305	+			95			Ig-like.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.285C>T	CCDS6093.2																																																																																				0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			18	127	0	0	0	1	0	18	127				
EXTL1	2134	broad.mit.edu	37	1	26361822	26361822	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26361822G>T	ENST00000374280.3	+	11	2882	c.2015G>T	c.(2014-2016)aGc>aTc	p.S672I		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	672					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTACCGCAGCCTGGAGAAG	0.711																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(2014-2016)aGc>aTc		exostosin-like glycosyltransferase 1							33.0	32.0	32.0					1																	26361822		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26361822G>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.2015G>T	1.37:g.26361822G>T	ENSP00000363398:p.Ser672Ile						p.S672I	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	11	2882	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	672					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.2015G>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.871983	0.72180	.	.	ENSG00000158008	ENST00000374280	D	0.95238	-3.65	4.67	2.5	0.30297	.	0.777423	0.12720	N	0.444807	D	0.90205	0.6938	L	0.54323	1.7	0.34908	D	0.74717	B	0.34103	0.437	B	0.28916	0.096	D	0.89961	0.4086	10	0.66056	D	0.02	-1.1405	5.0811	0.14656	0.456:0.0:0.544:0.0	.	672	Q92935	EXTL1_HUMAN	I	672	ENSP00000363398:S672I	ENSP00000363398:S672I	S	+	2	0	EXTL1	26234409	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.986000	0.49370	1.074000	0.40909	0.561000	0.74099	AGC		0.711	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		39	179	1	0	2.47872e-24	1	2.8326e-24	39	179				
AKAP8	10270	broad.mit.edu	37	19	15484043	15484043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15484043G>A	ENST00000269701.2	-	5	540	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	160					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATTGCGGTCGGACCCCAGGT	0.667																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(478-480)tcC>tcT		A kinase (PRKA) anchor protein 8							31.0	37.0	35.0					19																	15484043		2203	4300	6503	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15484043G>A	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.480C>T	19.37:g.15484043G>A							p.S160S	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			5	540	-			160						Silent	SNP	ENST00000269701.2	37	c.480C>T	CCDS12329.1																																																																																				0.667	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		48	233	0	0	0	1	0	48	233				
SLC2A1	6513	broad.mit.edu	37	1	43396482	43396482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43396482C>A	ENST00000426263.3	-	4	509	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C|SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	111					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTCGAGAAGCCCATGAGCACG	0.587																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(331-333)Ggc>Tgc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						77.0	68.0	71.0					1																	43396482		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396482C>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.331G>T	1.37:g.43396482C>A	ENSP00000416293:p.Gly111Cys					SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C|SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C	p.G111C	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			4	509	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	111					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.331G>T	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967324	0.92855	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000439722;ENST00000415851;ENST00000372500	D;D;D	0.82893	-1.66;-1.66;-1.66	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.90369	3.11	0.80722	D	1	P	0.47191	0.891	P	0.49597	0.616	D	0.91902	0.5532	10	0.87932	D	0	.	16.9145	0.86148	0.0:1.0:0.0:0.0	.	111	P11166	GTR1_HUMAN	C	111;111;16;111;111	ENSP00000416293:G111C;ENSP00000395521:G16C;ENSP00000361578:G111C	ENSP00000361578:G111C	G	-	1	0	SLC2A1	43169069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.581000	0.87130	0.555000	0.69702	GGC		0.587	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		20	150	1	0	9.7654e-05	1	9.93505e-05	20	150				
UNC13C	440279	broad.mit.edu	37	15	54825191	54825191	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54825191A>C	ENST00000260323.11	+	25	5623	c.5623A>C	c.(5623-5625)Aca>Cca	p.T1875P	UNC13C_ENST00000545554.1_Missense_Mutation_p.T1875P|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1875					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGAAACACCACATCTAATAA	0.313																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5623-5625)Aca>Cca		unc-13 homolog C (C. elegans)							81.0	82.0	81.0					15																	54825191		1824	4090	5914	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54825191A>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5623A>C	15.37:g.54825191A>C	ENSP00000260323:p.Thr1875Pro					UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P|UNC13C_ENST00000260323.11_Missense_Mutation_p.T1875P	p.T1875P			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	25	5623	+			1875					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5623A>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	8.458	0.854665	0.17106	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13901	2.55;2.55;2.55	5.69	-1.44	0.08856	.	0.457329	0.24452	N	0.038410	T	0.04815	0.0130	N	0.03608	-0.345	0.09310	N	1	B	0.18166	0.026	B	0.24974	0.057	T	0.36529	-0.9744	10	0.30078	T	0.28	.	6.431	0.21796	0.4589:0.0:0.4189:0.1221	.	1875	Q8NB66	UN13C_HUMAN	P	1875;1875;1873	ENSP00000260323:T1875P;ENSP00000438156:T1875P;ENSP00000442569:T1873P	ENSP00000260323:T1875P	T	+	1	0	UNC13C	52612483	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.379000	0.07437	-0.249000	0.09569	0.459000	0.35465	ACA		0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		9	52	0	0	0	1	0	9	52				
TPI1	7167	broad.mit.edu	37	12	6979528	6979528	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6979528T>G	ENST00000229270.4	+	7	1179	c.842T>G	c.(841-843)aTc>aGc	p.I281S	TPI1_ENST00000396705.5_Missense_Mutation_p.I244S|TPI1_ENST00000535434.1_Missense_Mutation_p.I162S|TPI1_ENST00000488464.2_Missense_Mutation_p.I162S	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	281				I -> L (in Ref. 11; AA sequence). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCGTGGACATCATCAATGCC	0.577											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(841-843)aTc>aGc		triosephosphate isomerase 1							86.0	75.0	79.0					12																	6979528		2203	4297	6500	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6979528T>G		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.842T>G	12.37:g.6979528T>G	ENSP00000229270:p.Ile281Ser		OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_ENST00000488464.2_Missense_Mutation_p.I162S|TPI1_ENST00000396705.5_Missense_Mutation_p.I244S|TPI1_ENST00000535434.1_Missense_Mutation_p.I162S	p.I281S	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN			7	1179	+			244					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.842T>G	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687550	0.88639	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.96073	-3.9;-3.9;-3.9	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	D	0.98738	0.9576	H	0.98936	4.375	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.99581	1.0973	10	0.87932	D	0	.	15.392	0.74751	0.0:0.0:0.0:1.0	.	281	P60174	TPIS_HUMAN	S	281;244;162	ENSP00000229270:I281S;ENSP00000379933:I244S;ENSP00000443599:I162S	ENSP00000229270:I281S	I	+	2	0	TPI1	6849789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.944000	0.87722	2.117000	0.64856	0.459000	0.35465	ATC		0.577	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		34	213	0	0	0	1	0	34	213				
KCNIP4	80333	broad.mit.edu	37	4	20751322	20751322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20751322G>A	ENST00000382152.2	-	5	559	c.392C>T	c.(391-393)gCa>gTa	p.A131V	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382148.3_Missense_Mutation_p.A106V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|PACRGL_ENST00000507634.1_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	131	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TGTATCAAATGCATTGAACAG	0.353																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(316-318)gCa>gTa		Kv channel interacting protein 4							117.0	107.0	111.0					4																	20751322		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20751322G>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.392C>T	4.37:g.20751322G>A	ENSP00000371587:p.Ala131Val					KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|KCNIP4_ENST00000382149.4_5'UTR|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382152.2_Missense_Mutation_p.A131V	p.A106V	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			4	653	-		Breast(46;0.134)	131			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.317C>T	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409805	0.83340	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	N	0.21097	0.63	0.80722	D	1	D;D;D;D	0.65815	0.973;0.987;0.987;0.995	P;P;P;P	0.60886	0.741;0.88;0.88;0.842	T	0.01345	-1.1379	10	0.06236	T	0.91	.	18.3716	0.90408	0.0:0.0:1.0:0.0	.	106;110;114;131	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	V	106;97;110;69;131;69;69	ENSP00000371583:A106V;ENSP00000399080:A97V;ENSP00000371585:A110V;ENSP00000371587:A131V;ENSP00000423257:A69V;ENSP00000351892:A69V	ENSP00000351892:A69V	A	-	2	0	KCNIP4	20360420	1.000000	0.71417	0.980000	0.43619	0.884000	0.51177	9.379000	0.97198	2.623000	0.88846	0.585000	0.79938	GCA		0.353	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		36	156	0	0	0	1	0	36	156				
SRBD1	55133	broad.mit.edu	37	2	45715393	45715393	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45715393T>G	ENST00000263736.4	-	15	2014	c.1952A>C	c.(1951-1953)aAt>aCt	p.N651T	SRBD1_ENST00000535761.1_Missense_Mutation_p.N170T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	651					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTTCTCAAATTAGGGTCCAG	0.413																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1951-1953)aAt>aCt		S1 RNA binding domain 1							124.0	122.0	122.0					2																	45715393		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45715393T>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1952A>C	2.37:g.45715393T>G	ENSP00000263736:p.Asn651Thr					SRBD1_ENST00000535761.1_Missense_Mutation_p.N170T	p.N651T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		15	2014	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	651					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1952A>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950353	0.73787	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.28454	2.03;1.61	4.92	4.92	0.64577	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.03281	-0.365	0.47737	D	0.999508	D	0.76494	0.999	D	0.66602	0.945	T	0.35101	-0.9802	10	0.45353	T	0.12	.	12.1702	0.54155	0.0:0.0:0.0:1.0	.	651	Q8N5C6	SRBD1_HUMAN	T	651;170	ENSP00000263736:N651T;ENSP00000441272:N170T	ENSP00000263736:N651T	N	-	2	0	SRBD1	45568897	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.617000	0.74210	2.074000	0.62210	0.482000	0.46254	AAT		0.413	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		12	300	0	0	0	1	0	12	300				
SIGLEC10	89790	broad.mit.edu	37	19	51918657	51918657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51918657C>T	ENST00000339313.5	-	7	1224	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V370I			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	370	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V370L(1)|p.V312L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCCTCCAGTACTGGGAGAGAC	0.632																																						ENST00000353836.5																			2	Substitution - Missense(2)	p.V370L(1)|p.V312L(1)	lung(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1108-1110)Gta>Ata		sialic acid binding Ig-like lectin 10							41.0	43.0	42.0					19																	51918657		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918657C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1108G>A	19.37:g.51918657C>T	ENSP00000345243:p.Val370Ile					SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I	p.V370I	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	7	1329	-		all_neural(266;0.0199)	370			Ig-like C2-type 3.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1108G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.947344	0.34377	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.64	3.59	0.41128	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.417373	0.20806	N	0.085331	T	0.26122	0.0637	L	0.45470	1.425	0.24844	N	0.992441	D;D;D;D;D;D;P;P	0.89917	0.972;0.996;1.0;0.999;1.0;1.0;0.674;0.881	D;D;D;D;D;D;B;P	0.91635	0.946;0.998;0.999;0.988;0.999;0.999;0.291;0.694	T	0.01626	-1.1309	10	0.41790	T	0.15	.	9.0636	0.36449	0.0:0.8925:0.0:0.1075	.	322;280;370;222;370;312;312;370	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	I	370;287;222;370;312;280;312;322;370	ENSP00000342389:V370I;ENSP00000396742:V287I;ENSP00000395475:V222I;ENSP00000348646:V370I;ENSP00000408387:V312I;ENSP00000431444:V280I;ENSP00000389132:V312I;ENSP00000414324:V322I;ENSP00000345243:V370I	ENSP00000345243:V370I	V	-	1	0	SIGLEC10	56610469	0.940000	0.31905	0.759000	0.31340	0.187000	0.23431	2.191000	0.42640	2.135000	0.66039	0.462000	0.41574	GTA		0.632	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		47	317	0	0	0	1	0	47	317				
RNF212	285498	broad.mit.edu	37	4	1066789	1066789	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1066789T>C	ENST00000433731.2	-	10	828	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	RNF212_ENST00000382968.5_3'UTR			Q495C1	RN212_HUMAN	ring finger protein 212	256					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TACCTCAGCATATATTGGAAG	0.527											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433731.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10						c.(766-768)tAt>tGt		ring finger protein 212							110.0	110.0	110.0					4																	1066789		2203	4300	6503	SO:0001583	missense	285498						zinc ion binding	g.chr4:1066789T>C	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.767A>G	4.37:g.1066789T>C	ENSP00000389709:p.Tyr256Cys		OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	RNF212_ENST00000382968.5_3'UTR	p.Y256C			Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	10	828	-			256					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	c.767A>G	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	T	1.736	-0.492944	0.04322	.	.	ENSG00000178222	ENST00000433731	T	0.55234	0.53	1.49	-2.98	0.05513	.	.	.	.	.	T	0.28134	0.0694	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.12734	-1.0536	9	0.87932	D	0	.	6.8661	0.24094	0.0:0.3195:0.0:0.6805	.	256	Q495C1	RN212_HUMAN	C	256	ENSP00000389709:Y256C	ENSP00000389709:Y256C	Y	-	2	0	RNF212	1056789	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.213000	0.02991	-1.391000	0.02085	-1.122000	0.02009	TAT		0.527	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		48	226	0	0	0	1	0	48	226				
NID1	4811	broad.mit.edu	37	1	236212173	236212173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212173G>A	ENST00000264187.6	-	2	424	c.342C>T	c.(340-342)acC>acT	p.T114T	NID1_ENST00000366595.3_Silent_p.T114T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	114	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCAGGCCATCGGTCGTGTCCA	0.572																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(340-342)acC>acT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						65.0	71.0	69.0					1																	236212173		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236212173G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.342C>T	1.37:g.236212173G>A						NID1_ENST00000366595.3_Silent_p.T114T	p.T114T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		2	424	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	114			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.342C>T	CCDS1608.1																																																																																				0.572	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		17	414	0	0	0	1	0	17	414				
TANC1	85461	broad.mit.edu	37	2	160020017	160020017	+	Silent	SNP	C	C	A	rs370313221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160020017C>A	ENST00000263635.6	+	8	1143	c.906C>A	c.(904-906)ggC>ggA	p.G302G	TANC1_ENST00000454300.1_Silent_p.G196G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	302					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATTCTCAGGGCTCCAGCTCAC	0.562																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(904-906)ggC>ggA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							56.0	63.0	61.0					2																	160020017		2014	4178	6192	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160020017C>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.906C>A	2.37:g.160020017C>A						TANC1_ENST00000454300.1_Silent_p.G196G	p.G302G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			8	1143	+			302					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.906C>A	CCDS42766.1																																																																																				0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			53	228	1	0	6.14515e-18	1	6.80267e-18	53	228				
NLRP8	126205	broad.mit.edu	37	19	56466053	56466053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466053G>T	ENST00000291971.3	+	3	700	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	210	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G210E(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCATACAGGGAGCTCCTGGG	0.522																																						ENST00000291971.3																			1	Substitution - Missense(1)	p.G210E(1)	skin(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(628-630)gGa>gTa		NLR family, pyrin domain containing 8							87.0	73.0	78.0					19																	56466053		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466053G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.629G>T	19.37:g.56466053G>T	ENSP00000291971:p.Gly210Val					NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	p.G210V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	700	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	210			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.629G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792438	0.31685	.	.	ENSG00000179709	ENST00000291971	D	0.88896	-2.44	2.04	0.942	0.19525	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.93621	0.7963	M	0.87900	2.915	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84005	0.0345	9	0.87932	D	0	.	6.4363	0.21825	0.0:0.308:0.692:0.0	.	210;210	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	210	ENSP00000291971:G210V	ENSP00000291971:G210V	G	+	2	0	NLRP8	61157865	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	5.793000	0.69060	0.400000	0.25396	0.514000	0.50259	GGA		0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		64	345	1	0	2.73361e-28	1	3.17826e-28	64	345				
ARHGAP5	394	broad.mit.edu	37	14	32561798	32561798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32561798G>A	ENST00000345122.3	+	2	2238	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.S641S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000432921.1_Silent_p.S641S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	641					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGCCAAATCGCCTTACTTTT	0.388																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1921-1923)tcG>tcA		Rho GTPase activating protein 5							140.0	138.0	138.0					14																	32561798		2203	4300	6503	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561798G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1923G>A	14.37:g.32561798G>A						ARHGAP5_ENST00000556611.1_Silent_p.S641S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S641S	p.S641S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2238	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		641					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1923G>A	CCDS32062.1																																																																																				0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		153	658	0	0	0	1	0	153	658				
TTN	7273	broad.mit.edu	37	2	179462481	179462481	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462481T>A	ENST00000591111.1	-	244	52629	c.52405A>T	c.(52405-52407)Atc>Ttc	p.I17469F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10170F|TTN_ENST00000460472.2_Missense_Mutation_p.I10045F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I10237F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I19110F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16542F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17469	Ig-like 103.				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)			ATGATTCGGATCACCCCTCCA	0.453																																						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.(57328-57330)Atc>Ttc		titin							132.0	118.0	123.0					2																	179462481		2009	4194	6203	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462481T>A	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.52405A>T	2.37:g.179462481T>A	ENSP00000465570:p.Ile17469Phe					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10170F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16542F|TTN_ENST00000460472.2_Missense_Mutation_p.I10045F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I10237F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I17469F|TTN-AS1_ENST00000592689.1_RNA	p.I19110F	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)		294	57552	-			17469			Fibronectin type-III 38.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.57328A>T		.	.	.	.	.	.	.	.	.	.	T	18.04	3.535285	0.64972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62672	0.2447	L	0.57130	1.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.64639	-0.6360	9	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	10045;10170;10237;17469	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16542;10045;10237;10170;10043	ENSP00000343764:I16542F;ENSP00000434586:I10045F;ENSP00000340554:I10237F;ENSP00000352154:I10170F	ENSP00000340554:I10237F	I	-	1	0	TTN	179170726	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.980000	0.88113	2.326000	0.78906	0.533000	0.62120	ATC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		51	248	0	0	0	1	0	51	248				
ABI3BP	25890	broad.mit.edu	37	3	100493516	100493516	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100493516T>G	ENST00000284322.5	-	28	2440	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ABI3BP_ENST00000471714.1_Splice_Site_p.E1479D|ABI3BP_ENST00000383691.4_Splice_Site_p.E731D	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	777					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGTTATATTTTCTGAGAATG	0.333																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.e60-1		ABI family, member 3 (NESH) binding protein							53.0	48.0	49.0					3																	100493516		1809	4063	5872	SO:0001630	splice_region_variant	25890					extracellular space		g.chr3:100493516T>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2330-1A>C	3.37:g.100493516T>G						ABI3BP_ENST00000284322.5_Splice_Site_p.E777_splice|ABI3BP_ENST00000383691.4_Splice_Site_p.E731_splice	p.E1479_splice			Q7Z7G0	TARSH_HUMAN			60	4546	-			777					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Splice_Site	SNP	ENST00000284322.5	37	c.4435_splice	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.291|9.291	1.050645|1.050645	0.19827|0.19827	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000495591	T;T;T|.	0.23950|.	2.25;1.88;1.88|.	5.54|5.54	0.522|0.522	0.17053|0.17053	.|.	0.388069|.	0.29565|.	N|.	0.011793|.	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.02539|0.02539	-0.55|-0.55	0.23673|0.23673	N|N	0.997144|0.997144	B;B;B;B|.	0.15719|.	0.0;0.0;0.014;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.001|.	T|T	0.32455|0.32455	-0.9906|-0.9906	10|5	0.13108|.	T|.	0.6|.	.|.	4.9816|4.9816	0.14168|0.14168	0.6554:0.0:0.2149:0.1298|0.6554:0.0:0.2149:0.1298	.|.	731;777;1479;486|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	D|T	1479;777;486;188;731;189|833	ENSP00000420524:E1479D;ENSP00000284322:E777D;ENSP00000373189:E731D|.	ENSP00000284322:E777D|.	E|K	-|-	3|2	2|0	ABI3BP|ABI3BP	101976206|101976206	0.945000|0.945000	0.32115|0.32115	0.611000|0.611000	0.29010|0.29010	0.845000|0.845000	0.48019|0.48019	1.347000|1.347000	0.33975|0.33975	0.071000|0.071000	0.16664|0.16664	-0.710000|-0.710000	0.03640|0.03640	GAA|AAA		0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		Missense_Mutation	8	20	0	0	0	1	0	8	20				
COL5A3	50509	broad.mit.edu	37	19	10081698	10081698	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10081698C>A	ENST00000264828.3	-	53	3920	c.3835G>T	c.(3835-3837)Gat>Tat	p.D1279Y		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1279	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGAACCATCTATGCCCTGC	0.582																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3835-3837)Gat>Tat		collagen, type V, alpha 3							65.0	65.0	65.0					19																	10081698		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10081698C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3835G>T	19.37:g.10081698C>A	ENSP00000264828:p.Asp1279Tyr						p.D1279Y	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		53	3920	-			1279			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3835G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259475	0.59321	.	.	ENSG00000080573	ENST00000264828	D	0.94330	-3.4	4.46	4.46	0.54185	.	0.144776	0.44688	D	0.000427	D	0.95121	0.8419	M	0.67517	2.055	0.54753	D	0.999988	D	0.71674	0.998	P	0.60789	0.879	D	0.94502	0.7710	10	0.41790	T	0.15	.	14.6536	0.68817	0.0:1.0:0.0:0.0	.	1279	P25940	CO5A3_HUMAN	Y	1279	ENSP00000264828:D1279Y	ENSP00000264828:D1279Y	D	-	1	0	COL5A3	9942698	0.961000	0.32948	0.041000	0.18516	0.349000	0.29174	4.675000	0.61619	2.306000	0.77630	0.455000	0.32223	GAT		0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		67	326	1	0	9.40535e-28	1	1.0908e-27	67	326				
STRIP2	57464	broad.mit.edu	37	7	129107205	129107205	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129107205G>A	ENST00000249344.2	+	17	1831	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	STRIP2_ENST00000435494.2_Silent_p.S597S	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	597					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AATATGTATCGCAACATTTGG	0.353																																						ENST00000249344.2																			0											c.(1789-1791)tcG>tcA		striatin interacting protein 2							105.0	98.0	100.0					7																	129107205		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129107205G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1791G>A	7.37:g.129107205G>A						STRIP2_ENST00000435494.2_Silent_p.S597S	p.S597S	NM_020704.2	NP_065755.1					17	1831	+								Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.1791G>A	CCDS34752.1																																																																																				0.353	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		33	156	0	0	0	1	0	33	156				
HPR	3250	broad.mit.edu	37	16	72110289	72110289	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72110289C>T	ENST00000540303.2	+	5	388	c.356C>T	c.(355-357)gCt>gTt	p.A119V	HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.A156V|HPR_ENST00000356967.5_Missense_Mutation_p.A119V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	119	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCCTGGCAGGCTAAGATGGTT	0.532																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(355-357)gCt>gTt		haptoglobin-related protein							56.0	39.0	45.0					16																	72110289		1994	4165	6159	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110289C>T	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.356C>T	16.37:g.72110289C>T	ENSP00000441828:p.Ala119Val					HPR_ENST00000356967.5_Missense_Mutation_p.A119V|HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.A156V	p.A119V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			5	388	+		Ovarian(137;0.125)	119			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.356C>T	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	9.882	1.201811	0.22121	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.91577	-2.87;-2.87;-2.87	2.46	1.32	0.21799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.066639	0.56097	D	0.000022	D	0.87184	0.6114	N	0.19112	0.55	0.40059	D	0.97587	D	0.71674	0.998	D	0.70227	0.968	T	0.82598	-0.0378	10	0.26408	T	0.33	.	4.0998	0.10009	0.0:0.4798:0.3603:0.1599	.	119	P00739	HPTR_HUMAN	V	119;119;156	ENSP00000349451:A119V;ENSP00000441828:A119V;ENSP00000228226:A156V	ENSP00000228226:A156V	A	+	2	0	HP	70667790	0.931000	0.31567	0.997000	0.53966	0.236000	0.25371	1.823000	0.39062	1.381000	0.46364	0.194000	0.17425	GCT		0.532	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		59	201	0	0	0	1	0	59	201				
PIDD1	55367	broad.mit.edu	37	11	804251	804251	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:804251G>T	ENST00000347755.5	-	2	279	c.138C>A	c.(136-138)ggC>ggA	p.G46G	PIDD_ENST00000411829.2_Silent_p.G46G|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GCTGCTGGCAGCCCCCGGGGT	0.652																																						ENST00000347755.5																			0											c.(136-138)ggC>ggA		p53-induced death domain protein							22.0	25.0	24.0					11																	804251		2200	4294	6494	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:804251G>T																												ENST00000347755.5:c.138C>A	11.37:g.804251G>T						PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.G46G	p.G46G	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			2	279	-			46						Silent	SNP	ENST00000347755.5	37	c.138C>A	CCDS7716.1																																																																																				0.652	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			61	182	1	0	2.73361e-28	1	3.17826e-28	61	182				
CD5	921	broad.mit.edu	37	11	60892563	60892563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60892563T>C	ENST00000347785.3	+	9	1505	c.1339T>C	c.(1339-1341)Tcc>Ccc	p.S447P		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	447					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCCCACAGCCTCCCACGTGGA	0.592																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1339-1341)Tcc>Ccc		CD5 molecule							202.0	145.0	164.0					11																	60892563		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60892563T>C	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1339T>C	11.37:g.60892563T>C	ENSP00000342681:p.Ser447Pro						p.S447P	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	9	1505	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	447					A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1339T>C	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744193	0.49151	.	.	ENSG00000110448	ENST00000347785	T	0.31769	1.48	4.99	2.52	0.30459	.	0.254323	0.27901	N	0.017394	T	0.29355	0.0731	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	P	0.50440	0.641	T	0.09707	-1.0662	10	0.72032	D	0.01	-21.5538	9.1883	0.37184	0.0:0.0:0.358:0.642	.	447	P06127	CD5_HUMAN	P	447	ENSP00000342681:S447P	ENSP00000342681:S447P	S	+	1	0	CD5	60649139	0.000000	0.05858	0.014000	0.15608	0.694000	0.40290	0.316000	0.19469	0.280000	0.22209	0.379000	0.24179	TCC		0.592	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		49	227	0	0	0	1	0	49	227				
UVSSA	57654	broad.mit.edu	37	4	1346849	1346849	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1346849G>A	ENST00000389851.4	+	5	1029	c.582G>A	c.(580-582)acG>acA	p.T194T	UVSSA_ENST00000511216.1_Silent_p.T194T|UVSSA_ENST00000507531.1_Silent_p.T194T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	194					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCTGCTTGACGGAGGTAGAGA	0.532																																						ENST00000389851.4																			0											c.(580-582)acG>acA		UV-stimulated scaffold protein A							47.0	47.0	47.0					4																	1346849		2200	4290	6490	SO:0001819	synonymous_variant	57654							g.chr4:1346849G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.582G>A	4.37:g.1346849G>A						UVSSA_ENST00000511216.1_Silent_p.T194T|UVSSA_ENST00000507531.1_Silent_p.T194T	p.T194T	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			5	1029	+			194					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.582G>A	CCDS33938.1																																																																																				0.532	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		63	253	0	0	0	1	0	63	253				
ALPI	248	broad.mit.edu	37	2	233321938	233321938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321938G>A	ENST00000295463.3	+	5	631	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	185					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACAGTGAACCGCAACTGGTAC	0.607																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(553-555)cGc>cAc		alkaline phosphatase, intestinal							86.0	85.0	85.0					2																	233321938		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321938G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.554G>A	2.37:g.233321938G>A	ENSP00000295463:p.Arg185His						p.R185H	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	5	631	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	185					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.554G>A	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013703	0.93404	.	.	ENSG00000163295	ENST00000295463	D	0.98876	-5.2	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99884	4.89	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	D	0.97130	0.9817	10	0.87932	D	0	.	18.7561	0.91833	0.0:0.0:1.0:0.0	.	185	P09923	PPBI_HUMAN	H	185	ENSP00000295463:R185H	ENSP00000295463:R185H	R	+	2	0	ALPI	233030182	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.552000	0.82192	2.757000	0.94681	0.561000	0.74099	CGC		0.607	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		100	510	0	0	0	1	0	100	510				
ABLIM2	84448	broad.mit.edu	37	4	8089918	8089918	+	Silent	SNP	C	C	T	rs367620415	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8089918C>T	ENST00000341937.5	-	4	496	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000296372.8_Silent_p.A144A	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	144					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632													C|||	4	0.000798722	0.0023	0.0	5008	,	,		13118	0.001		0.0	False		,,,				2504	0.0					ENST00000296372.8																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(430-432)gcG>gcA		actin binding LIM protein family, member 2		C	,,,,,,	9,4097		0,9,2044	32.0	38.0	36.0		432,432,432,432,432,432,432	-5.3	0.0	4		36	0,8348		0,0,4174	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	,,,,,,	0,9,6218	TT,TC,CC		0.0,0.2192,0.0723	,,,,,,	144/646,144/612,144/573,144/560,144/532,144/471,144/522	8089918	9,12445	2053	4174	6227	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8089918C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.432G>A	4.37:g.8089918C>T						ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000341937.5_Silent_p.A144A	p.A144A			Q6H8Q1	ABLM2_HUMAN			4	574	-			144					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.432G>A	CCDS47013.1																																																																																				0.632	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		19	121	0	0	0	1	0	19	121				
TEX11	56159	broad.mit.edu	37	X	69843825	69843825	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69843825C>T	ENST00000395889.2	-	21	1926	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	TEX11_ENST00000374320.2_Missense_Mutation_p.A266T|TEX11_ENST00000374333.2_Missense_Mutation_p.A576T|TEX11_ENST00000344304.3_Missense_Mutation_p.A591T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	591					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGCATTTCAGCAATTTTTGGA	0.308																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1771-1773)Gct>Act		testis expressed 11							90.0	88.0	89.0					X																	69843825		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69843825C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1771G>A	X.37:g.69843825C>T	ENSP00000379226:p.Ala591Thr					TEX11_ENST00000374320.2_Missense_Mutation_p.A266T|TEX11_ENST00000374333.2_Missense_Mutation_p.A576T|TEX11_ENST00000344304.3_Missense_Mutation_p.A591T	p.A591T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			21	1926	-	Renal(35;0.156)		591					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1771G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553547	0.03996	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.78	-6.73	0.01749	.	1.295100	0.05298	N	0.522521	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.039	T	0.16600	-1.0397	9	.	.	.	.	0.3425	0.00336	0.2225:0.2971:0.2025:0.2779	.	576;591	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	576;591;266;591	ENSP00000363453:A576T;ENSP00000379226:A591T;ENSP00000363440:A266T;ENSP00000340995:A591T	.	A	-	1	0	TEX11	69760550	0.025000	0.19082	0.000000	0.03702	0.016000	0.09150	0.073000	0.14640	-1.777000	0.01283	-0.465000	0.05216	GCT		0.308	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			66	254	0	0	0	1	0	66	254				
FAT4	79633	broad.mit.edu	37	4	126412738	126412738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412738C>A	ENST00000394329.3	+	17	14774	c.14761C>A	c.(14761-14763)Cta>Ata	p.L4921I	FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4921					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						GCCCATGAAGCTAGGGCAGCA	0.557																																						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.(14761-14763)Cta>Ata		FAT atypical cadherin 4							60.0	57.0	58.0					4																	126412738		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412738C>A	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.14761C>A	4.37:g.126412738C>A	ENSP00000377862:p.Leu4921Ile					FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	p.L4921I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14774	+			4921					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14761C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375834	0.24857	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75704	-0.79;-0.96	4.67	4.67	0.58626	.	0.000000	0.29508	U	0.011943	T	0.80660	0.4665	L	0.51422	1.61	0.53688	D	0.999976	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.60789	0.879;0.76;0.879	T	0.79398	-0.1820	10	0.36615	T	0.2	.	16.7563	0.85499	0.0:1.0:0.0:0.0	.	3162;4921;4920	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	4921;3162	ENSP00000377862:L4921I;ENSP00000335169:L3162I	ENSP00000335169:L3162I	L	+	1	2	FAT4	126632188	1.000000	0.71417	0.975000	0.42487	0.123000	0.20343	4.446000	0.60014	2.425000	0.82216	0.491000	0.48974	CTA		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		58	227	1	0	1.13205e-32	1	1.33805e-32	58	227				
OPN3	23596	broad.mit.edu	37	1	241757917	241757917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241757917G>T	ENST00000366554.2	-	4	1128	c.1022C>A	c.(1021-1023)gCt>gAt	p.A341D	KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.A262D|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366557.4_3'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	341					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCACTTCCAGCTGCTGGTAG	0.463																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(1021-1023)gCt>gAt		opsin 3							123.0	123.0	123.0					1																	241757917		2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241757917G>T	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.1022C>A	1.37:g.241757917G>T	ENSP00000355512:p.Ala341Asp					KMO_ENST00000366557.4_3'UTR|KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.A262D	p.A341D	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		4	1128	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	341					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.1022C>A	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228311	0.22542	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.69561	-0.41;-0.0	4.11	-2.95	0.05564	.	0.979536	0.08373	N	0.955721	T	0.44891	0.1315	N	0.24115	0.695	0.09310	N	1	B	0.24258	0.1	B	0.24006	0.05	T	0.30208	-0.9986	10	0.49607	T	0.09	.	1.9055	0.03276	0.3059:0.1376:0.4074:0.1491	.	341	Q9H1Y3	OPN3_HUMAN	D	341;262	ENSP00000355512:A341D;ENSP00000328018:A262D	ENSP00000328018:A262D	A	-	2	0	OPN3	239824540	0.004000	0.15560	0.000000	0.03702	0.713000	0.41058	0.437000	0.21543	-0.649000	0.05430	0.650000	0.86243	GCT		0.463	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		141	588	1	0	1.85997e-60	1	2.33967e-60	141	588				
HTATSF1	27336	broad.mit.edu	37	X	135593823	135593823	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135593823A>G	ENST00000218364.4	+	9	2093	c.1919A>G	c.(1918-1920)gAt>gGt	p.D640G	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D640G	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	640	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTATTTGATGATGAGTCTGAT	0.393																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1918-1920)gAt>gGt		HIV-1 Tat specific factor 1							123.0	120.0	121.0					X																	135593823		2202	4300	6502	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593823A>G	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1919A>G	X.37:g.135593823A>G	ENSP00000218364:p.Asp640Gly					HTATSF1_ENST00000218364.4_Missense_Mutation_p.D640G	p.D640G	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	2341	+	Acute lymphoblastic leukemia(192;0.000127)		640			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1919A>G	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665511	0.29604	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04234	3.67;3.67	4.23	3.08	0.35506	.	0.664421	0.13400	N	0.390668	T	0.03783	0.0107	N	0.19112	0.55	0.27948	N	0.937253	B	0.19200	0.034	B	0.15052	0.012	T	0.32455	-0.9906	10	0.87932	D	0	-7.1752	7.1947	0.25845	0.8905:0.0:0.1095:0.0	.	640	O43719	HTSF1_HUMAN	G	640	ENSP00000442699:D640G;ENSP00000218364:D640G	ENSP00000218364:D640G	D	+	2	0	HTATSF1	135421489	0.949000	0.32298	0.893000	0.35052	0.617000	0.37484	2.624000	0.46444	0.779000	0.33543	0.425000	0.28330	GAT		0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		146	480	0	0	0	1	0	146	480				
SLC38A10	124565	broad.mit.edu	37	17	79226464	79226464	+	Silent	SNP	G	G	A	rs375564146		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79226464G>A	ENST00000374759.3	-	13	1859	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SLC38A10_ENST00000288439.5_Silent_p.G492G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	492					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTGGGCCTCGCCCACAGGCA	0.607																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1474-1476)ggC>ggT		solute carrier family 38, member 10			,	1,4397		0,1,2198	48.0	40.0	43.0		1476,1476	-8.5	0.6	17		43	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	SLC38A10	NM_001037984.1,NM_138570.2	,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,	492/1120,492/781	79226464	1,12989	2199	4296	6495	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226464G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1476C>T	17.37:g.79226464G>A						SLC38A10_ENST00000288439.5_Silent_p.G492G	p.G492G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	1859	-	all_neural(118;0.0804)|Melanoma(429;0.242)		492					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.1476C>T	CCDS42397.1																																																																																				0.607	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		73	321	0	0	0	1	0	73	321				
PRKAR2B	5577	broad.mit.edu	37	7	106762403	106762403	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106762403C>T	ENST00000265717.4	+	3	609	c.350C>T	c.(349-351)gCa>gTa	p.A117V	CTA-360L10.1_ENST00000494849.1_RNA|PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	117	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATAGTATGTGCAGAAGCTTAT	0.299																																						ENST00000265717.4																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						c.(349-351)gCa>gTa		protein kinase, cAMP-dependent, regulatory, type II, beta							120.0	120.0	120.0					7																	106762403		2203	4299	6502	SO:0001583	missense	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106762403C>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.350C>T	7.37:g.106762403C>T	ENSP00000265717:p.Ala117Val					PRKAR2B_ENST00000393613.2_3'UTR|CTA-360L10.1_ENST00000494849.1_RNA	p.A117V	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN			3	609	+			117			Dimerization and phosphorylation.		A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.350C>T	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507675	0.85282	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.84442	-1.85	5.25	5.25	0.73442	.	0.050938	0.85682	D	0.000000	D	0.90913	0.7144	M	0.77616	2.38	0.49130	D	0.999756	D	0.76494	0.999	P	0.59115	0.852	D	0.91996	0.5607	10	0.87932	D	0	-21.0737	16.1148	0.81301	0.0:1.0:0.0:0.0	.	117	P31323	KAP3_HUMAN	V	117;117;104	ENSP00000265717:A117V	ENSP00000265717:A117V	A	+	2	0	PRKAR2B	106549639	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.620000	0.67736	2.608000	0.88229	0.655000	0.94253	GCA		0.299	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			33	177	0	0	0	1	0	33	177				
HHIPL1	84439	broad.mit.edu	37	14	100135184	100135184	+	Intron	SNP	C	C	T	rs377111858		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100135184C>T	ENST00000330710.5	+	7	1828				HHIPL1_ENST00000357223.2_Silent_p.S582S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGGCCAGAAGCGCCATGCCCG	0.567																																						ENST00000357223.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1744-1746)agC>agT		HHIP-like 1		C	,	0,4406		0,0,2203	94.0	94.0	94.0		,1746	-4.2	0.0	14		94	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,582/609	100135184	1,13005	2203	4300	6503	SO:0001627	intron_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100135184C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1730+544C>T	14.37:g.100135184C>T						HHIPL1_ENST00000330710.5_Intron	p.S582S	NM_032425.4	NP_115801.3	Q96JK4	HIPL1_HUMAN			8	1811	+		Melanoma(154;0.128)	578					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.1746C>T	CCDS45162.1																																																																																				0.567	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		118	518	0	0	0	1	0	118	518				
LRRIQ1	84125	broad.mit.edu	37	12	85623425	85623425	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85623425A>T	ENST00000393217.2	+	25	5014	c.4953A>T	c.(4951-4953)aaA>aaT	p.K1651N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1651										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAATATGAAATGGTGAGGTC	0.338																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4951-4953)aaA>aaT		leucine-rich repeats and IQ motif containing 1							82.0	77.0	79.0					12																	85623425		1828	4076	5904	SO:0001583	missense	84125							g.chr12:85623425A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4953A>T	12.37:g.85623425A>T	ENSP00000376910:p.Lys1651Asn					LRRIQ1_ENST00000528777.3_3'UTR	p.K1651N	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	25	5014	+			1651					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4953A>T	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.38|15.38	2.816446|2.816446	0.50527|0.50527	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.54279|.	0.58|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|.	.|.	.|.	.|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.34800|0.34800	-0.9814|-0.9814	9|5	0.59425|.	D|.	0.04|.	.|.	9.4014|9.4014	0.38435|0.38435	0.9132:0.0:0.0868:0.0|0.9132:0.0:0.0868:0.0	.|.	1651|.	Q96JM4|.	LRIQ1_HUMAN|.	N|I	1651|72	ENSP00000376910:K1651N|.	ENSP00000376910:K1651N|.	K|N	+|+	3|2	2|0	LRRIQ1|LRRIQ1	84147556|84147556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.872000|2.872000	0.48467|0.48467	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	AAA|AAT		0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		60	256	0	0	0	1	0	60	256				
SDPR	8436	broad.mit.edu	37	2	192711348	192711348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711348T>C	ENST00000304141.4	-	1	633	c.304A>G	c.(304-306)Aag>Gag	p.K102E	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCCTGGTACTTGGAGAGCTTG	0.597																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(304-306)Aag>Gag		serum deprivation response	Phosphatidylserine(DB00144)						97.0	84.0	89.0					2																	192711348		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711348T>C	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.304A>G	2.37:g.192711348T>C	ENSP00000305675:p.Lys102Glu					AC098617.1_ENST00000424116.2_RNA	p.K102E	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	633	-			102						Missense_Mutation	SNP	ENST00000304141.4	37	c.304A>G	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188182	0.57909	.	.	ENSG00000168497	ENST00000304141	T	0.64991	-0.13	4.62	3.46	0.39613	.	0.135593	0.48767	N	0.000174	T	0.62816	0.2459	M	0.77313	2.365	0.42605	D	0.993296	P	0.38827	0.649	B	0.41510	0.359	T	0.65043	-0.6264	10	0.72032	D	0.01	-26.7125	7.3259	0.26555	0.0:0.0811:0.1555:0.7634	.	102	O95810	SDPR_HUMAN	E	102	ENSP00000305675:K102E	ENSP00000305675:K102E	K	-	1	0	SDPR	192419593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.051000	0.57412	0.904000	0.36572	0.397000	0.26171	AAG		0.597	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		45	232	0	0	0	1	0	45	232				
PARD3B	117583	broad.mit.edu	37	2	206166414	206166414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206166414C>T	ENST00000406610.2	+	18	2826	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000349953.3_Silent_p.G873G|PARD3B_ENST00000351153.1_Silent_p.G804G|PARD3B_ENST00000358768.2_Silent_p.G811G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	873	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		aggGCTTCGGCGCCATGCTGA	0.433																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2617-2619)ggC>ggT		par-3 family cell polarity regulator beta							49.0	50.0	50.0					2																	206166414		1880	4100	5980	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206166414C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2619C>T	2.37:g.206166414C>T						PARD3B_ENST00000349953.3_Silent_p.G873G|PARD3B_ENST00000358768.2_Silent_p.G811G|PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000351153.1_Silent_p.G804G	p.G873G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	18	2826	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	873			Lys-rich.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.2619C>T																																																																																					0.433	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		50	218	0	0	0	1	0	50	218				
DYRK1A	1859	broad.mit.edu	37	21	38884724	38884724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38884724C>T	ENST00000398960.2	+	11	2257	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	DYRK1A_ENST00000339659.4_Missense_Mutation_p.P719S|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	728					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TAATACAGGTCCTGCACATTA	0.483																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2155-2157)Cct>Tct		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							112.0	101.0	105.0					21																	38884724		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884724C>T	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2182C>T	21.37:g.38884724C>T	ENSP00000381932:p.Pro728Ser					DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P728S|DYRK1A_ENST00000338785.3_3'UTR	p.P719S	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			11	3625	+			728					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.2155C>T	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883449	0.33255	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58210	0.36;0.35;0.91	5.53	4.64	0.57946	.	0.099278	0.64402	N	0.000001	T	0.32164	0.0820	N	0.14661	0.345	0.53005	D	0.999964	B;B	0.32350	0.366;0.002	B;B	0.27500	0.08;0.005	T	0.10382	-1.0632	10	0.12103	T	0.63	.	14.5041	0.67741	0.0:0.9292:0.0:0.0708	.	728;719	Q13627;Q13627-2	DYR1A_HUMAN;.	S	719;728;500	ENSP00000340373:P719S;ENSP00000381932:P728S;ENSP00000407854:P500S	ENSP00000340373:P719S	P	+	1	0	DYRK1A	37806594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	1.338000	0.45544	0.655000	0.94253	CCT		0.483	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		32	284	0	0	0	1	0	32	284				
DVL2	1856	broad.mit.edu	37	17	7129389	7129389	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7129389G>A	ENST00000005340.5	-	15	2288	c.2006C>T	c.(2005-2007)cCg>cTg	p.P669L	DVL2_ENST00000575458.1_Missense_Mutation_p.P663L|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	669					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCAGGGGGCGGTCCATAGGG	0.667																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(2005-2007)cCg>cTg		dishevelled segment polarity protein 2							34.0	38.0	36.0					17																	7129389		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7129389G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.2006C>T	17.37:g.7129389G>A	ENSP00000005340:p.Pro669Leu					DVL2_ENST00000575458.1_Missense_Mutation_p.P663L	p.P669L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			15	2288	-			669					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.2006C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	5.040	0.193054	0.09599	.	.	ENSG00000004975	ENST00000005340	T	0.04275	3.66	5.74	3.6	0.41247	Dishevelled C-terminal (1);	0.445516	0.24407	N	0.038790	T	0.02156	0.0067	N	0.08118	0	0.19575	N	0.999962	P;P	0.38110	0.618;0.618	B;B	0.27715	0.082;0.082	T	0.50092	-0.8868	10	0.25106	T	0.35	-4.3549	10.3068	0.43685	0.0:0.1472:0.7005:0.1523	.	663;669	B4DLQ0;O14641	.;DVL2_HUMAN	L	669	ENSP00000005340:P669L	ENSP00000005340:P669L	P	-	2	0	DVL2	7070113	1.000000	0.71417	0.523000	0.27875	0.974000	0.67602	4.992000	0.63889	1.396000	0.46663	0.561000	0.74099	CCG		0.667	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		77	293	0	0	0	1	0	77	293				
MATK	4145	broad.mit.edu	37	19	3784220	3784220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3784220G>A	ENST00000310132.6	-	5	662	c.264C>T	c.(262-264)cgC>cgT	p.R88R	MATK_ENST00000395040.2_Silent_p.R47R|MATK_ENST00000585778.1_Silent_p.R88R|MATK_ENST00000395045.2_Silent_p.R89R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	88	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGCTTGACGCGGTACCAGC	0.692																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(262-264)cgC>cgT		megakaryocyte-associated tyrosine kinase							55.0	60.0	58.0					19																	3784220		2203	4300	6503	SO:0001819	synonymous_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784220G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.264C>T	19.37:g.3784220G>A						MATK_ENST00000395040.2_Silent_p.R47R|MATK_ENST00000585778.1_Silent_p.R88R|MATK_ENST00000395045.2_Silent_p.R89R	p.R88R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	662	-		Hepatocellular(1079;0.137)	88			SH3.		B3KNZ9|Q9NST8	Silent	SNP	ENST00000310132.6	37	c.264C>T	CCDS12114.1																																																																																				0.692	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		82	343	0	0	0	1	0	82	343				
TENM4	26011	broad.mit.edu	37	11	78419498	78419498	+	Missense_Mutation	SNP	C	C	T	rs539542652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78419498C>T	ENST00000278550.7	-	27	4579	c.4117G>A	c.(4117-4119)Gat>Aat	p.D1373N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1373					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCATTCTGATCGATGCGTCTG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21584	0.0		0.0	False		,,,				2504	0.0					ENST00000278550.7																			0											c.(4117-4119)Gat>Aat		teneurin transmembrane protein 4							107.0	104.0	105.0					11																	78419498		2064	4208	6272	SO:0001583	missense	26011							g.chr11:78419498C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4117G>A	11.37:g.78419498C>T	ENSP00000278550:p.Asp1373Asn						p.D1373N	NM_001098816.2	NP_001092286.2					27	4579	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.4117G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652283	0.96724	.	.	ENSG00000149256	ENST00000278550	D	0.91996	-2.95	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95726	0.8770	9	.	.	.	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	1373	Q6N022	TEN4_HUMAN	N	1373	ENSP00000278550:D1373N	.	D	-	1	0	ODZ4	78097146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.878000	0.98634	0.650000	0.86243	GAT		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			27	151	0	0	0	1	0	27	151				
RINL	126432	broad.mit.edu	37	19	39360267	39360267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360267G>T	ENST00000591812.1	-	10	1506	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.L360M|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.L360M			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	474	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCTACGTCCAGCTGCGTGTCC	0.607											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340740.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(1078-1080)Ctg>Atg		Ras and Rab interactor-like							67.0	74.0	72.0					19																	39360267		2203	4300	6503	SO:0001583	missense	126432						GTPase activator activity	g.chr19:39360267G>T	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1420C>A	19.37:g.39360267G>T	ENSP00000467107:p.Leu474Met		OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	RINL_ENST00000591812.1_Missense_Mutation_p.L474M|RINL_ENST00000598904.1_Missense_Mutation_p.L360M	p.L360M	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			10	1465	-			360			VPS9.		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	c.1078C>A	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053794	0.55218	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.33438	1.41	5.27	4.22	0.49857	Vacuolar sorting protein 9 (2);	0.176689	0.39407	N	0.001373	T	0.43478	0.1249	L	0.42686	1.345	0.33299	D	0.564609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53500	-0.8430	10	0.34782	T	0.22	-15.0535	10.0355	0.42127	0.0946:0.0:0.9054:0.0	.	474;360	B4DPG5;Q6ZS11	.;RINL_HUMAN	M	360	ENSP00000340369:L360M	ENSP00000340369:L360M	L	-	1	2	RINL	44052107	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.971000	0.49248	1.335000	0.45486	0.462000	0.41574	CTG		0.607	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		80	393	1	0	5.41189e-41	1	6.56972e-41	80	393				
MST1R	4486	broad.mit.edu	37	3	49929221	49929221	+	Nonsense_Mutation	SNP	G	G	A	rs150876558		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49929221G>A	ENST00000296474.3	-	15	3349	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CATTGGATTCGATTCTGGGCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16420	0.0		0.001	False		,,,				2504	0.0					ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3322-3324)Cga>Tga		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)		G	stop/ARG	1,4405		0,1,2202	243.0	211.0	222.0		3322	4.6	0.8	3	dbSNP_134	222	3,8597		0,3,4297	yes	stop-gained	MST1R	NM_002447.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		1108/1401	49929221	4,13002	2203	4300	6503	SO:0001587	stop_gained	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49929221G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3322C>T	3.37:g.49929221G>A	ENSP00000296474:p.Arg1108*					MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	p.R1108*	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	15	3349	-			1108			Protein kinase.		B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	ENST00000296474.3	37	c.3322C>T	CCDS2807.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	38	7.213134	0.98139	2.27E-4	3.49E-4	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	5.48	4.6	0.57074	.	0.783895	0.12392	N	0.472947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.1745	4.2179	0.10544	0.0832:0.2301:0.5395:0.1471	.	.	.	.	X	1108;1059	.	ENSP00000296474:R1108X	R	-	1	2	MST1R	49904225	0.869000	0.29996	0.798000	0.32154	0.961000	0.63080	2.280000	0.43443	2.617000	0.88574	0.632000	0.83419	CGA		0.532	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			157	655	0	0	0	1	0	157	655				
HPS5	11234	broad.mit.edu	37	11	18313060	18313060	+	Missense_Mutation	SNP	G	G	A	rs200872830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18313060G>A	ENST00000349215.3	-	16	2646	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	HPS5_ENST00000396253.3_Missense_Mutation_p.A676V|HPS5_ENST00000438420.2_Missense_Mutation_p.A676V|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	790					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTCTCCTTCGCTCTTTTCAA	0.398									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2026-2028)gCg>gTg		Hermansky-Pudlak syndrome 5		G	VAL/ALA,VAL/ALA,VAL/ALA	4,4394	8.1+/-20.4	0,4,2195	67.0	64.0	65.0		2027,2369,2027	2.3	1.0	11		65	0,8586		0,0,4293	yes	missense,missense,missense	HPS5	NM_007216.3,NM_181507.1,NM_181508.1	64,64,64	0,4,6488	AA,AG,GG		0.0,0.091,0.0308	benign,benign,benign	676/1016,790/1130,676/1016	18313060	4,12980	2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313060G>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2369C>T	11.37:g.18313060G>A	ENSP00000265967:p.Ala790Val					HPS5_ENST00000438420.2_Missense_Mutation_p.A676V|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.A790V	p.A676V	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			15	2489	-			790					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2027C>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	1.114	-0.657429	0.03480	9.1E-4	0.0	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.76709	-1.04;-1.04;-1.04	5.56	2.33	0.28932	.	0.299602	0.36303	N	0.002665	T	0.54351	0.1853	N	0.21142	0.635	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44360	-0.9333	10	0.02654	T	1	.	5.3766	0.16168	0.5457:0.0:0.4543:0.0	.	790	Q9UPZ3	HPS5_HUMAN	V	676;676;790	ENSP00000379552:A676V;ENSP00000399590:A676V;ENSP00000265967:A790V	ENSP00000265967:A790V	A	-	2	0	HPS5	18269636	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	4.151000	0.58105	0.723000	0.32274	-0.751000	0.03497	GCG		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		32	169	0	0	0	1	0	32	169				
TUBA3D	113457	broad.mit.edu	37	2	132237733	132237733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237733G>A	ENST00000321253.6	+	4	574	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	156					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCATGGAGCGGCTCTCAGTG	0.587																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(466-468)cGg>cAg		tubulin, alpha 3d							75.0	84.0	80.0					2																	132237733		2203	4300	6503	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237733G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.467G>A	2.37:g.132237733G>A	ENSP00000326042:p.Arg156Gln					TUBA3D_ENST00000409047.2_3'UTR	p.R156Q	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	574	+			156					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.467G>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.604006	0.28534	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.71341	-0.56	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46758	U	0.000277	T	0.64670	0.2619	M	0.78801	2.425	0.43740	D	0.996237	P	0.40332	0.713	B	0.31495	0.131	T	0.70949	-0.4733	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	156	Q13748	TBA3C_HUMAN	Q	156	ENSP00000326042:R156Q	ENSP00000326042:R156Q	R	+	2	0	TUBA3D	131954203	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	8.151000	0.89636	1.243000	0.43853	0.194000	0.17425	CGG		0.587	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		189	555	0	0	0	1	0	189	555				
TRHDE	29953	broad.mit.edu	37	12	72771827	72771827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72771827C>A	ENST00000261180.4	+	3	1202	c.1106C>A	c.(1105-1107)gCt>gAt	p.A369D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	369					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGGACTATGCTCTCCATATA	0.318																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1105-1107)gCt>gAt		thyrotropin-releasing hormone degrading enzyme							66.0	69.0	68.0					12																	72771827		2203	4298	6501	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72771827C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1106C>A	12.37:g.72771827C>A	ENSP00000261180:p.Ala369Asp						p.A369D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			3	1202	+			369					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1106C>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423237	0.83559	.	.	ENSG00000072657	ENST00000261180	T	0.03553	3.89	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.44651	-0.9314	10	0.87932	D	0	.	19.5437	0.95283	0.0:1.0:0.0:0.0	.	369	Q9UKU6	TRHDE_HUMAN	D	369	ENSP00000261180:A369D	ENSP00000261180:A369D	A	+	2	0	TRHDE	71058094	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.303000	0.78871	2.645000	0.89757	0.585000	0.79938	GCT		0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		62	309	1	0	2.6711e-34	1	3.17551e-34	62	309				
ATP2A2	488	broad.mit.edu	37	12	110778497	110778497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110778497C>T	ENST00000539276.2	+	14	1904	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L	ATP2A2_ENST00000308664.6_Silent_p.L599L|ATP2A2_ENST00000395494.2_Silent_p.L572L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	599					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CGTGGGCATGCTGGATCCTCC	0.498																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1714-1716)Ctg>Ttg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							110.0	113.0	112.0					12																	110778497		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110778497C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1795C>T	12.37:g.110778497C>T						ATP2A2_ENST00000539276.2_Silent_p.L599L|ATP2A2_ENST00000308664.6_Silent_p.L599L	p.L572L			P16615	AT2A2_HUMAN			13	2277	+			599					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.1714C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617351	0.14129	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	5.19	0.71726	.	.	.	.	.	T	0.71273	0.3320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70666	-0.4809	4	.	.	.	.	15.4358	0.75146	0.0:0.9337:0.0:0.0663	.	.	.	.	V	489	.	.	A	+	2	0	ATP2A2	109262880	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.300000	0.51834	1.583000	0.49898	-0.140000	0.14226	GCT		0.498	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		165	628	0	0	0	1	0	165	628				
PLXDC1	57125	broad.mit.edu	37	17	37296038	37296038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37296038G>A	ENST00000315392.4	-	2	335	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W|PLXDC1_ENST00000444911.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	42					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCAGCCCCGCACGGTCCCT	0.657																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(124-126)Cgg>Tgg		plexin domain containing 1							44.0	45.0	45.0					17																	37296038		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37296038G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.124C>T	17.37:g.37296038G>A	ENSP00000323927:p.Arg42Trp					PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W	p.R42W	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			2	335	-			42					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.124C>T	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	G	2.372	-0.344085	0.05208	.	.	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.24908	1.83	5.39	2.11	0.27256	.	1.246720	0.05575	N	0.571727	T	0.12518	0.0304	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	10	0.36615	T	0.2	0.0837	3.5256	0.07759	0.0912:0.2012:0.5364:0.1712	.	42	Q8IUK5	PXDC1_HUMAN	W	42	ENSP00000323927:R42W	ENSP00000323927:R42W	R	-	1	2	PLXDC1	34549564	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	1.263000	0.33004	0.167000	0.19631	-0.397000	0.06425	CGG		0.657	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		51	272	0	0	0	1	0	51	272				
TUBBP1	92755	broad.mit.edu	37	8	30210008	30210008	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30210008G>A	ENST00000518096.1	+	0	620									tubulin, beta pseudogene 1																		TACCCTGATCGCATCATGAAT	0.542																																						ENST00000518096.1																			0																																																			0							g.chr8:30210008G>A	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210008G>A														0	620	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.542	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		58	207	0	0	0	1	0	58	207				
MACROD2	140733	broad.mit.edu	37	20	15948254	15948254	+	Missense_Mutation	SNP	C	C	T	rs150223084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948254C>T	ENST00000310348.4	+	13	964	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	MACROD2_ENST00000378058.3_Missense_Mutation_p.R87C|MACROD2_ENST00000217246.4_Missense_Mutation_p.R322C|MACROD2_ENST00000402914.1_Missense_Mutation_p.R87C			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	322	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TCATTCTGTGCGTGACCAAGA	0.348																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(964-966)Cgt>Tgt		MACRO domain containing 2		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	134.0	135.0	135.0		259,964	0.3	0.2	20	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MACROD2	NM_001033087.1,NM_080676.5	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	87/214,322/426	15948254	1,13005	2203	4300	6503	SO:0001583	missense	140733							g.chr20:15948254C>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.964C>T	20.37:g.15948254C>T	ENSP00000309809:p.Arg322Cys					MACROD2_ENST00000378058.3_Missense_Mutation_p.R87C|MACROD2_ENST00000402914.1_Missense_Mutation_p.R87C|MACROD2_ENST00000310348.4_Missense_Mutation_p.R322C	p.R322C	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			13	1359	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	322			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.964C>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.487179	0.00161	0.0	1.16E-4	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.42513	2.61;2.6;0.97;0.97	5.33	0.335	0.15953	.	0.644521	0.14708	N	0.303106	T	0.09642	0.0237	N	0.00210	-1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31052	-0.9957	10	0.44086	T	0.13	0.0	4.992	0.14218	0.0:0.2541:0.1503:0.5956	.	322;322	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	C	322;322;87;87	ENSP00000217246:R322C;ENSP00000309809:R322C;ENSP00000385290:R87C;ENSP00000367297:R87C	ENSP00000217246:R322C	R	+	1	0	MACROD2	15896254	0.005000	0.15991	0.187000	0.23214	0.074000	0.17049	-0.242000	0.08928	0.411000	0.25702	-0.294000	0.09567	CGT		0.348	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		72	407	0	0	0	1	0	72	407				
MLH1	4292	broad.mit.edu	37	3	37053334	37053334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37053334T>C	ENST00000231790.2	+	7	785	c.569T>C	c.(568-570)aTt>aCt	p.I190T	MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000539477.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	190					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AATGCAGGCATTAGTTTCTCA	0.343		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(568-570)aTt>aCt	Mismatch excision repair (MMR)	mutL homolog 1							194.0	208.0	204.0					3																	37053334		2203	4300	6503	SO:0001583	missense	4292	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	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37053334T>C	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.569T>C	3.37:g.37053334T>C	ENSP00000231790:p.Ile190Thr					MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR	p.I190T	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			7	785	+			190					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.569T>C	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580974	0.46006	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176	D;D	0.90620	-2.7;-2.7	5.92	5.92	0.95590	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.118924	0.64402	D	0.000017	D	0.90549	0.7038	M	0.76170	2.325	0.80722	D	1	B;B;B	0.12630	0.003;0.006;0.006	B;B;B	0.17098	0.011;0.011;0.017	D	0.87158	0.2213	10	0.46703	T	0.11	-19.4156	16.3662	0.83325	0.0:0.0:0.0:1.0	.	92;190;190	E9PCU2;Q53GX1;P40692	.;.;MLH1_HUMAN	T	190;156;156;54;92	ENSP00000231790:I190T;ENSP00000402564:I92T	ENSP00000231790:I190T	I	+	2	0	MLH1	37028338	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.294000	0.65687	2.274000	0.75844	0.533000	0.62120	ATT		0.343	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		243	852	0	0	0	1	0	243	852				
DDX42	11325	broad.mit.edu	37	17	61890627	61890627	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61890627A>C	ENST00000578681.1	+	16	2316	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	DDX42_ENST00000583590.1_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000457800.2_Missense_Mutation_p.N572T|DDX42_ENST00000389924.2_Missense_Mutation_p.N572T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	572	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ACTGTCATTAACTATGATGTG	0.443																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1714-1716)aAc>aCc		DEAD (Asp-Glu-Ala-Asp) box helicase 42							91.0	81.0	85.0					17																	61890627		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61890627A>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1715A>C	17.37:g.61890627A>C	ENSP00000464050:p.Asn572Thr					DDX42_ENST00000389924.2_Missense_Mutation_p.N572T|DDX42_ENST00000583590.1_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000457800.2_Missense_Mutation_p.N572T	p.N572T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			16	2316	+			572			Helicase C-terminal.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1715A>C	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840372	0.91117	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.05580	3.42;3.42	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.039730	0.85682	D	0.000000	T	0.35158	0.0922	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47368	-0.9123	10	0.87932	D	0	-21.2105	15.1322	0.72533	1.0:0.0:0.0:0.0	.	118;572	B3KV84;Q86XP3	.;DDX42_HUMAN	T	572;572;308	ENSP00000374574:N572T;ENSP00000390121:N572T	ENSP00000352308:N308T	N	+	2	0	DDX42	59244359	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.230000	0.72887	0.528000	0.53228	AAC		0.443	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		59	229	0	0	0	1	0	59	229				
ZNF217	7764	broad.mit.edu	37	20	52198796	52198796	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198796T>G	ENST00000371471.2	-	2	995	c.570A>C	c.(568-570)caA>caC	p.Q190H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	190					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCTCCAAGCCTTGCTGCAGTT	0.512																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(568-570)caA>caC		zinc finger protein 217							165.0	163.0	163.0					20																	52198796		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198796T>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.570A>C	20.37:g.52198796T>G	ENSP00000360526:p.Gln190His					ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H	p.Q190H			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	995	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		190					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.570A>C	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310239	0.60414	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10288	2.89;2.89	5.15	-10.3	0.00346	.	0.432865	0.11934	U	0.515418	T	0.12390	0.0301	L	0.32530	0.975	0.38519	D	0.948665	D	0.62365	0.991	P	0.57324	0.818	T	0.57820	-0.7745	10	0.49607	T	0.09	-11.1182	12.6688	0.56857	0.0:0.622:0.1:0.2781	.	190	O75362	ZN217_HUMAN	H	190	ENSP00000360526:Q190H;ENSP00000304308:Q190H	ENSP00000304308:Q190H	Q	-	3	2	ZNF217	51632203	0.000000	0.05858	0.234000	0.24042	0.679000	0.39708	-1.241000	0.02911	-2.023000	0.00937	0.482000	0.46254	CAA		0.512	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		51	963	0	0	0	1	0	51	963				
ENPP3	5169	broad.mit.edu	37	6	132043409	132043409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132043409G>A	ENST00000414305.1	+	19	1938	c.1610G>A	c.(1609-1611)gGt>gAt	p.G537D	ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D|ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	537					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGAACCCATGGTAGTTTAAAC	0.408																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1609-1611)gGt>gAt		ectonucleotide pyrophosphatase/phosphodiesterase 3							158.0	139.0	145.0					6																	132043409		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132043409G>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1610G>A	6.37:g.132043409G>A	ENSP00000406261:p.Gly537Asp					ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D|ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D	p.G537D			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	19	1938	+	Breast(56;0.0753)		537					Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1610G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842462	0.91197	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.76839	-0.98;-0.98;-1.05	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	D	0.85465	0.5703	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85201	0.1015	10	0.87932	D	0	-22.0949	20.1581	0.98126	0.0:0.0:1.0:0.0	.	537	O14638	ENPP3_HUMAN	D	537	ENSP00000406261:G537D;ENSP00000350265:G537D;ENSP00000350964:G537D	ENSP00000350265:G537D	G	+	2	0	ENPP3	132085102	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	7.942000	0.87708	2.937000	0.99478	0.650000	0.86243	GGT		0.408	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			74	294	0	0	0	1	0	74	294				
GPRIN3	285513	broad.mit.edu	37	4	90169370	90169370	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169370C>A	ENST00000609438.1	-	2	2410	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S631I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	631										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTGCGTGGGCTGGCTTTGAC	0.577																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1891-1893)aGc>aTc		GPRIN family member 3							72.0	75.0	74.0					4																	90169370		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169370C>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1892G>T	4.37:g.90169370C>A	ENSP00000476603:p.Ser631Ile						p.S631I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2410	-		Hepatocellular(203;0.114)	631					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1892G>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045073	0.75846	.	.	ENSG00000185477	ENST00000333209	T	0.26518	1.73	5.64	5.64	0.86602	.	0.000000	0.40469	N	0.001088	T	0.41627	0.1167	L	0.29908	0.895	0.34145	D	0.666898	D	0.89917	1.0	D	0.83275	0.996	T	0.51140	-0.8743	10	0.62326	D	0.03	-17.3889	17.895	0.88885	0.0:1.0:0.0:0.0	.	631	Q6ZVF9	GRIN3_HUMAN	I	631	ENSP00000328672:S631I	ENSP00000328672:S631I	S	-	2	0	GPRIN3	90388393	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.288000	0.43514	2.654000	0.90174	0.655000	0.94253	AGC		0.577	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		11	633	1	0	1.58986e-06	1	1.64048e-06	11	633				
SLCO4C1	353189	broad.mit.edu	37	5	101583122	101583122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101583122C>T	ENST00000310954.6	-	10	1931	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTTTCCTTTCAATACAGGAA	0.299																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1645-1647)Gaa>Aaa		solute carrier organic anion transporter family, member 4C1							74.0	81.0	79.0					5																	101583122		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101583122C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1645G>A	5.37:g.101583122C>T	ENSP00000309741:p.Glu549Lys						p.E549K	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	1931	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	549			Kazal-like.			Missense_Mutation	SNP	ENST00000310954.6	37	c.1645G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.006002	0.07866	.	.	ENSG00000173930	ENST00000310954	T	0.38401	1.14	6.17	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.549817	0.18733	N	0.132698	T	0.23054	0.0557	N	0.12961	0.28	0.37272	D	0.907466	B	0.02656	0.0	B	0.11329	0.006	T	0.11665	-1.0578	10	0.06757	T	0.87	.	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	549	Q6ZQN7	SO4C1_HUMAN	K	549	ENSP00000309741:E549K	ENSP00000309741:E549K	E	-	1	0	SLCO4C1	101611021	0.927000	0.31430	0.846000	0.33378	0.157000	0.22087	1.816000	0.38992	1.586000	0.49944	0.655000	0.94253	GAA		0.299	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		95	398	0	0	0	1	0	95	398				
SYNE1	23345	broad.mit.edu	37	6	152749345	152749345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749345C>A	ENST00000367255.5	-	37	5572	c.4971G>T	c.(4969-4971)tgG>tgT	p.W1657C	SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1657					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCTCTGCCAGTGGGCCA	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4969-4971)tgG>tgT		spectrin repeat containing, nuclear envelope 1							190.0	199.0	196.0					6																	152749345		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749345C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4971G>T	6.37:g.152749345C>A	ENSP00000356224:p.Trp1657Cys	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C	p.W1657C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5572	-		Ovarian(120;0.0955)	1657					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4971G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639583	0.67244	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000029	T	0.71710	0.3372	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	T	0.72228	-0.4354	10	0.72032	D	0.01	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1640;1657;1657;1657;1664	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	C	1657;1664;1657;1664;1727;1657	ENSP00000356224:W1657C;ENSP00000396024:W1664C;ENSP00000265368:W1657C;ENSP00000390975:W1664C;ENSP00000341887:W1727C;ENSP00000356222:W1657C	ENSP00000265368:W1657C	W	-	3	0	SYNE1	152791038	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	TGG		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		223	1345	1	0	3.95597e-38	1	4.76283e-38	223	1345				
DCDC1	341019	broad.mit.edu	37	11	30915873	30915873	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30915873C>T	ENST00000597505.1	-	33	4814	c.4815G>A	c.(4813-4815)caG>caA	p.Q1605Q	DCDC1_ENST00000406071.2_Silent_p.Q343Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCACCACGGGCTGCACAGGGC	0.488																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4813-4815)caG>caA		doublecortin domain containing 1							69.0	72.0	71.0					11																	30915873		1926	4138	6064	SO:0001819	synonymous_variant	341019				intracellular signal transduction			g.chr11:30915873C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4815G>A	11.37:g.30915873C>T						DCDC1_ENST00000406071.2_Silent_p.Q343Q	p.Q1605Q			P59894	DCDC1_HUMAN			33	4814	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	37	c.4815G>A																																																																																					0.488	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		53	283	0	0	0	1	0	53	283				
C19orf18	147685	broad.mit.edu	37	19	58470038	58470038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58470038C>A	ENST00000314391.3	-	6	681	c.580G>T	c.(580-582)Gag>Tag	p.E194*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	194						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GAGTTTTGCTCTTCCTTCAGT	0.338																																						ENST00000314391.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(580-582)Gag>Tag		chromosome 19 open reading frame 18							65.0	61.0	63.0					19																	58470038		2202	4300	6502	SO:0001587	stop_gained	147685					integral to membrane		g.chr19:58470038C>A	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.580G>T	19.37:g.58470038C>A	ENSP00000321519:p.Glu194*						p.E194*	NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	6	681	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	194						Nonsense_Mutation	SNP	ENST00000314391.3	37	c.580G>T	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433390	0.25813	.	.	ENSG00000177025	ENST00000314391	.	.	.	3.14	-1.56	0.08532	.	.	.	.	.	.	.	.	.	.	.	0.36516	D	0.869866	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-40.216	3.3469	0.07139	0.0:0.4199:0.2063:0.3738	.	.	.	.	X	194	.	ENSP00000321519:E194X	E	-	1	0	C19orf18	63161850	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.002000	0.13061	-0.193000	0.10415	-0.350000	0.07774	GAG		0.338	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		15	124	1	0	2.23348e-06	1	2.30073e-06	15	124				
MBOAT1	154141	broad.mit.edu	37	6	20102597	20102597	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20102597A>T	ENST00000324607.7	-	13	1572	c.1408T>A	c.(1408-1410)Ttt>Att	p.F470I	MBOAT1_ENST00000541730.1_Missense_Mutation_p.F321I	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	470					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATTGGCAGAAATAGTATTATC	0.353																																						ENST00000541730.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(961-963)Ttt>Att		membrane bound O-acyltransferase domain containing 1							105.0	105.0	105.0					6																	20102597		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20102597A>T	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1408T>A	6.37:g.20102597A>T	ENSP00000324944:p.Phe470Ile					MBOAT1_ENST00000324607.7_Missense_Mutation_p.F470I	p.F321I			Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		12	1556	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		470					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.961T>A	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	A	2.735	-0.263539	0.05754	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.19105	2.17;2.61	5.03	1.06	0.20224	.	0.592069	0.18066	N	0.152795	T	0.02571	0.0078	N	0.20685	0.6	0.29436	N	0.859493	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.43893	-0.9363	10	0.11182	T	0.66	-8.0088	3.0293	0.06102	0.5593:0.0:0.1877:0.253	.	321;470	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	I	321;470	ENSP00000441568:F321I;ENSP00000324944:F470I	ENSP00000324944:F470I	F	-	1	0	MBOAT1	20210576	0.003000	0.15002	0.271000	0.24616	0.953000	0.61014	-0.053000	0.11846	0.466000	0.27193	0.533000	0.62120	TTT		0.353	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			83	346	0	0	0	1	0	83	346				
CYP1A2	1544	broad.mit.edu	37	15	75042451	75042451	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75042451C>A	ENST00000343932.4	+	2	435	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	124					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AGAGCTTGACCTTCAGCACAG	0.642																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(370-372)acC>acA		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						82.0	79.0	80.0					15																	75042451		2197	4295	6492	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042451C>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.372C>A	15.37:g.75042451C>A							p.T124T	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	435	+			124					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.372C>A	CCDS32293.1																																																																																				0.642	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		179	647	1	0	3.12765e-76	1	3.9905e-76	179	647				
KCNMA1	3778	broad.mit.edu	37	10	78943289	78943289	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78943289A>G	ENST00000286628.8	-	5	697	c.698T>C	c.(697-699)tTt>tCt	p.F233S	KCNMA1_ENST00000406533.3_Splice_Site_p.F233S|KCNMA1_ENST00000354353.5_Splice_Site_p.F233S|KCNMA1_ENST00000372440.1_Splice_Site_p.F233S|KCNMA1_ENST00000372443.1_Splice_Site_p.F233S|KCNMA1_ENST00000404771.3_Splice_Site_p.F233S|KCNMA1_ENST00000286627.5_Splice_Site_p.F233S|KCNMA1_ENST00000404857.1_Splice_Site_p.F233S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	233					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGCTGCAATAAACTGGGGGAA	0.418																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.e5-1		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						56.0	52.0	53.0					10																	78943289		2203	4300	6503	SO:0001630	splice_region_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78943289A>G	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.697-1T>C	10.37:g.78943289A>G						KCNMA1_ENST00000354353.5_Splice_Site_p.F233_splice|KCNMA1_ENST00000286628.8_Splice_Site_p.F233_splice|KCNMA1_ENST00000372440.1_Splice_Site_p.F233_splice|KCNMA1_ENST00000372443.1_Splice_Site_p.F233_splice|KCNMA1_ENST00000406533.3_Splice_Site_p.F233_splice|KCNMA1_ENST00000404771.3_Splice_Site_p.F233_splice|KCNMA1_ENST00000404857.1_Splice_Site_p.F233_splice	p.F233_splice	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		5	1650	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		233					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	37	c.696_splice		.	.	.	.	.	.	.	.	.	.	A	26.0	4.695036	0.88830	.	.	ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.65677	2.01	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.998;0.998;1.0;0.996;0.998	D	0.99893	1.1140	10	0.87932	D	0	-10.5967	16.3593	0.83251	1.0:0.0:0.0:0.0	.	233;233;233;233;233;233	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7	.;.;.;KCMA1_HUMAN;.;.	S	233;170;168;207;170;233;233;207;233;233;233;15	ENSP00000361517:F233S;ENSP00000361485:F170S;ENSP00000361514:F168S;ENSP00000396608:F207S;ENSP00000361520:F233S;ENSP00000286627:F233S;ENSP00000385552:F233S;ENSP00000346321:F233S;ENSP00000385806:F233S	ENSP00000286627:F233S	F	-	2	0	KCNMA1	78613295	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.203000	0.95033	2.267000	0.75376	0.383000	0.25322	TTT		0.418	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Missense_Mutation	26	113	0	0	0	1	0	26	113				
OR2H2	7932	broad.mit.edu	37	6	29556001	29556001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556001G>A	ENST00000383640.2	+	1	319	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	94					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGCTTCCTGGACTGCTCTGT	0.542																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(280-282)Gac>Aac		olfactory receptor, family 2, subfamily H, member 2							121.0	117.0	119.0					6																	29556001		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556001G>A		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.280G>A	6.37:g.29556001G>A	ENSP00000373136:p.Asp94Asn					GABBR1_ENST00000355973.3_Intron	p.D94N	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	319	+			94					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.280G>A	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273938	0.40194	.	.	ENSG00000204657	ENST00000383640	T	0.03004	4.08	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000809	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48570	-0.9024	10	0.87932	D	0	.	15.9828	0.80125	0.0:0.0:1.0:0.0	.	94	O95918	OR2H2_HUMAN	N	94	ENSP00000373136:D94N	ENSP00000373136:D94N	D	+	1	0	OR2H2	29663980	0.049000	0.20398	0.940000	0.37924	0.964000	0.63967	2.301000	0.43628	2.292000	0.77174	0.585000	0.79938	GAC		0.542	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			96	383	0	0	0	1	0	96	383				
ADARB2	105	broad.mit.edu	37	10	1230812	1230812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1230812G>A	ENST00000381312.1	-	9	2357	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	ADARB2_ENST00000381305.1_Silent_p.L80L|ADARB2_ENST00000381310.3_Silent_p.L187L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	678	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTGCCATACAGCCGCGCCCAC	0.652																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2032-2034)Ctg>Ttg		adenosine deaminase, RNA-specific, B2 (non-functional)							36.0	33.0	34.0					10																	1230812		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1230812G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2032C>T	10.37:g.1230812G>A						ADARB2_ENST00000381310.3_Silent_p.L187L|ADARB2_ENST00000381305.1_Silent_p.L80L	p.L678L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	9	2357	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	678			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.2032C>T	CCDS7058.1																																																																																				0.652	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		41	145	0	0	0	1	0	41	145				
CDKL4	344387	broad.mit.edu	37	2	39406330	39406330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39406330G>A	ENST00000395035.3	-	8	924	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CDKL4_ENST00000378803.1_Nonsense_Mutation_p.Q309*			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	309						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GGAAGTACCTGTTGGCGTCTT	0.393																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(925-927)Cag>Tag		cyclin-dependent kinase-like 4							116.0	113.0	114.0					2																	39406330		2203	4300	6503	SO:0001587	stop_gained	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39406330G>A		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.925C>T	2.37:g.39406330G>A	ENSP00000378476:p.Gln309*					CDKL4_ENST00000395035.3_Nonsense_Mutation_p.Q309*	p.Q309*	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			8	924	-		all_hematologic(82;0.248)	309					Q2NME9	Nonsense_Mutation	SNP	ENST00000395035.3	37	c.925C>T		.	.	.	.	.	.	.	.	.	.	G	13.77	2.337558	0.41398	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	.	.	.	5.43	5.43	0.79202	.	0.411149	0.20810	N	0.085268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-4.6979	14.7501	0.69519	0.0:0.0:1.0:0.0	.	.	.	.	X	91;309;309	.	ENSP00000368080:Q309X	Q	-	1	0	CDKL4	39259834	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	4.229000	0.58625	2.560000	0.86352	0.655000	0.94253	CAG		0.393	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		48	624	0	0	0	1	0	48	624				
ATCAY	85300	broad.mit.edu	37	19	3917763	3917763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3917763C>T	ENST00000450849.2	+	10	1456	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V|RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	330	Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGACTGAAGGCCAGGAGGGAG	0.522																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(988-990)gCc>gTc		ataxia, cerebellar, Cayman type							71.0	78.0	76.0					19																	3917763		1906	4105	6011	SO:0001583	missense	85300				transport		protein binding	g.chr19:3917763C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.989C>T	19.37:g.3917763C>T	ENSP00000390941:p.Ala330Val					ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V|ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V	p.A330V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	10	1456	+		Hepatocellular(1079;0.137)	330					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.989C>T	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992709	0.54041	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.38560	1.16;1.16;1.13	4.75	4.75	0.60458	.	0.180274	0.48286	D	0.000190	T	0.35682	0.0940	L	0.29908	0.895	0.45822	D	0.998699	B;B;B	0.25351	0.124;0.095;0.058	B;B;B	0.27796	0.055;0.083;0.038	T	0.20874	-1.0262	10	0.51188	T	0.08	.	17.0755	0.86585	0.0:1.0:0.0:0.0	.	336;330;330	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	V	330;330;330;336;308	ENSP00000390941:A330V;ENSP00000301260:A330V;ENSP00000381466:A336V	ENSP00000301260:A330V	A	+	2	0	ATCAY	3868763	1.000000	0.71417	0.992000	0.48379	0.627000	0.37826	3.283000	0.51701	2.352000	0.79861	0.313000	0.20887	GCC		0.522	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			51	295	0	0	0	1	0	51	295				
CAD	790	broad.mit.edu	37	2	27460626	27460626	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27460626T>G	ENST00000403525.1	+	28	4559	c.4415T>G	c.(4414-4416)cTt>cGt	p.L1472R	CAD_ENST00000264705.4_Missense_Mutation_p.L1535R			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGCTATTCCTTGGGGCCTCG	0.617																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4603-4605)cTt>cGt		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						50.0	55.0	53.0					2																	27460626		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27460626T>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4415T>G	2.37:g.27460626T>G	ENSP00000384510:p.Leu1472Arg					CAD_ENST00000403525.1_Missense_Mutation_p.L1472R	p.L1535R	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			29	4766	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1535			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4604T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378391|3.378391	0.61735|0.61735	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	T;T|D	0.47869|0.89196	0.83;0.83|-2.48	4.62|4.62	3.45|3.45	0.39498|0.39498	Amidohydrolase 1 (1);|.	0.290888|0.290888	0.33199|0.33199	N|N	0.005177|0.005177	D|D	0.84179|0.84179	0.5415|0.5415	L|L	0.51422|0.51422	1.61|1.61	0.41139|0.41139	D|D	0.985948|0.985948	B;B|.	0.33044|.	0.078;0.395|.	B;B|.	0.39805|.	0.106;0.31|.	T|T	0.75019|0.75019	-0.3465|-0.3465	10|8	0.87932|0.02654	D|T	0|1	0.1571|0.1571	9.2306|9.2306	0.37434|0.37434	0.0:0.0881:0.0:0.9119|0.0:0.0881:0.0:0.9119	.|.	1472;1535|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	R|V	1535;1472|187	ENSP00000264705:L1535R;ENSP00000384510:L1472R|ENSP00000414742:L187V	ENSP00000264705:L1535R|ENSP00000414742:L187V	L|L	+|+	2|1	0|2	CAD|CAD	27314130|27314130	1.000000|1.000000	0.71417|0.71417	0.124000|0.124000	0.21820|0.21820	0.800000|0.800000	0.45204|0.45204	5.808000|5.808000	0.69165|0.69165	0.616000|0.616000	0.30141|0.30141	0.374000|0.374000	0.22700|0.22700	CTT|TTG		0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			10	409	0	0	0	1	0	10	409				
COL24A1	255631	broad.mit.edu	37	1	86590991	86590991	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590991G>A	ENST00000370571.2	-	3	1394	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	343					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTTGTCTGAGTATCTTCCTC	0.413																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1027-1029)aCt>aTt		collagen, type XXIV, alpha 1							127.0	112.0	116.0					1																	86590991		1925	4137	6062	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590991G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1028C>T	1.37:g.86590991G>A	ENSP00000359603:p.Thr343Ile					COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	p.T343I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1394	-			343					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1028C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413974	0.01145	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94417	-3.42;-3.42	4.84	-2.47	0.06442	.	1.259990	0.05942	N	0.637237	T	0.73644	0.3613	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.66610	-0.5880	10	0.19590	T	0.45	.	6.7819	0.23650	0.3372:0.2986:0.3642:0.0	.	343;343	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	343	ENSP00000359603:T343I;ENSP00000392531:T343I	ENSP00000359603:T343I	T	-	2	0	COL24A1	86363579	0.000000	0.05858	0.003000	0.11579	0.123000	0.20343	-1.017000	0.03630	-0.139000	0.11414	0.563000	0.77884	ACT		0.413	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		92	296	0	0	0	1	0	92	296				
CDC23	8697	broad.mit.edu	37	5	137525404	137525404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525404C>T	ENST00000394886.2	-	15	1571	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCAGATAGCGAAAGGCAGT	0.388																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1540-1542)cGc>cAc		cell division cycle 23							89.0	83.0	85.0					5																	137525404		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137525404C>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1541G>A	5.37:g.137525404C>T	ENSP00000378350:p.Arg514His						p.R514H	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		15	1571	-			514					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1541G>A	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626694	0.66901	.	.	ENSG00000094880	ENST00000394886	T	0.37584	1.19	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	L	0.38531	1.155	0.80722	D	1	B	0.31241	0.315	B	0.21360	0.034	T	0.04551	-1.0943	10	0.21014	T	0.42	-8.2032	19.0709	0.93136	0.0:1.0:0.0:0.0	.	514	Q9UJX2	CDC23_HUMAN	H	514	ENSP00000378350:R514H	ENSP00000378350:R514H	R	-	2	0	CDC23	137553303	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.745000	0.94114	0.462000	0.41574	CGC		0.388	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			45	245	0	0	0	1	0	45	245				
PPIG	9360	broad.mit.edu	37	2	170493717	170493717	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493717A>G	ENST00000260970.3	+	14	2169	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	PPIG_ENST00000409714.3_Missense_Mutation_p.K635R|PPIG_ENST00000448752.2_Missense_Mutation_p.K650R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	650					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAGAGAGTAAGAGCTCACAC	0.388																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1948-1950)aAg>aGg		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						69.0	72.0	71.0					2																	170493717		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493717A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1949A>G	2.37:g.170493717A>G	ENSP00000260970:p.Lys650Arg					PPIG_ENST00000448752.2_Missense_Mutation_p.K650R|PPIG_ENST00000409714.3_Missense_Mutation_p.K635R	p.K650R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2169	+			650					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1949A>G	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	6.780	0.512835	0.12944	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.16196	2.36;2.36;2.36	5.51	1.83	0.25207	.	0.288558	0.31963	N	0.006783	T	0.09069	0.0224	N	0.14661	0.345	0.30690	N	0.751441	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14144	-1.0483	10	0.34782	T	0.22	-6.7652	8.7238	0.34456	0.6299:0.0:0.3701:0.0	.	635;635;650	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	R	650;635;650	ENSP00000260970:K650R;ENSP00000386245:K635R;ENSP00000407083:K650R	ENSP00000260970:K650R	K	+	2	0	PPIG	170201963	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	1.112000	0.31172	0.070000	0.16634	0.482000	0.46254	AAG		0.388	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			37	166	0	0	0	1	0	37	166				
P2RX5	5026	broad.mit.edu	37	17	3595050	3595050	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3595050T>C	ENST00000225328.5	-	2	574	c.176A>G	c.(175-177)gAc>gGc	p.D59G	P2RX5_ENST00000550772.1_5'Flank|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.D59G|P2RX5_ENST00000552276.1_Missense_Mutation_p.D59G|P2RX5_ENST00000551178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000552050.1_Missense_Mutation_p.D23G|P2RX5_ENST00000547178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000345901.3_Missense_Mutation_p.D59G|P2RX5_ENST00000435558.1_Missense_Mutation_p.D59G	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	59					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CAGGGAGGTGTCGACGTCTTG	0.597																																						ENST00000550383.1																			0											c.(175-177)gAc>gGc									183.0	158.0	167.0					17																	3595050		2203	4300	6503	SO:0001583	missense	0							g.chr17:3595050T>C	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.176A>G	17.37:g.3595050T>C	ENSP00000225328:p.Asp59Gly					P2RX5_ENST00000435558.1_Missense_Mutation_p.D59G|P2RX5_ENST00000551178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000552050.1_Missense_Mutation_p.D23G|P2RX5_ENST00000552276.1_Missense_Mutation_p.D59G|P2RX5_ENST00000345901.3_Missense_Mutation_p.D59G|P2RX5_ENST00000547178.1_Missense_Mutation_p.D59G|P2RX5_ENST00000225328.5_Missense_Mutation_p.D59G	p.D59G							2	364	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.176A>G	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.565856	0.86439	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050;ENST00000440619	T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25	5.13	5.13	0.70059	.	.	.	.	.	T	0.32041	0.0816	M	0.83953	2.67	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;0.995;0.997;0.995;0.997;0.997	D;D;D;D;D;D	0.91635	0.999;0.917;0.974;0.917;0.991;0.974	T	0.11275	-1.0594	9	0.87932	D	0	-13.61	14.479	0.67567	0.0:0.0:0.0:1.0	.	23;59;59;59;59;59	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	G	59;59;59;59;59;23;59	ENSP00000415370:D59G;ENSP00000447545:D59G;ENSP00000448355:D59G;ENSP00000225328:D59G;ENSP00000342161:D59G;ENSP00000450006:D23G	ENSP00000225328:D59G	D	-	2	0	P2RX5	3541799	1.000000	0.71417	0.995000	0.50966	0.796000	0.44982	8.001000	0.88508	2.079000	0.62486	0.456000	0.33151	GAC		0.597	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		137	692	0	0	0	1	0	137	692				
ATF3	467	broad.mit.edu	37	1	212791502	212791502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212791502C>T	ENST00000341491.4	+	3	539	c.274C>T	c.(274-276)Cga>Tga	p.R92*	ATF3_ENST00000492118.1_Intron|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*|ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*|RN7SL512P_ENST00000578962.1_RNA|ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	92	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GAAAAAGAGGCGACGAGAAAG	0.448																																						ENST00000341491.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(274-276)Cga>Tga		activating transcription factor 3							136.0	133.0	134.0					1																	212791502		2203	4300	6503	SO:0001587	stop_gained	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212791502C>T	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.274C>T	1.37:g.212791502C>T	ENSP00000344352:p.Arg92*					ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*|ATF3_ENST00000492118.1_Intron|ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*	p.R92*	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	3	539	+			92					Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Nonsense_Mutation	SNP	ENST00000341491.4	37	c.274C>T	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769942	0.90020	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985;ENST00000366983;ENST00000336937	.	.	.	5.51	3.62	0.41486	.	0.103434	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5233	14.2137	0.65779	0.4477:0.5523:0.0:0.0	.	.	.	.	X	92;92;92;35;92;63	.	ENSP00000336908:R63X	R	+	1	2	ATF3	210858125	0.803000	0.28956	1.000000	0.80357	0.644000	0.38419	-0.110000	0.10824	0.779000	0.33543	-1.312000	0.01307	CGA		0.448	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		40	443	0	0	0	1	0	40	443				
PABPC3	5042	broad.mit.edu	37	13	25671992	25671992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671992G>T	ENST00000281589.3	+	1	1693	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	552	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCTCAAAAGCAAAAGCAAA	0.453																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1654-1656)aaG>aaT		poly(A) binding protein, cytoplasmic 3							110.0	101.0	104.0					13																	25671992		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671992G>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1656G>T	13.37:g.25671992G>T	ENSP00000281589:p.Lys552Asn						p.K552N	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1693	+		Lung SC(185;0.0225)|Breast(139;0.0602)	552			PABC.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1656G>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	2.798	-0.249807	0.05867	.	.	ENSG00000151846	ENST00000281589	T	0.46819	0.86	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.134314	0.30959	U	0.008532	T	0.24812	0.0602	N	0.11341	0.13	0.23831	N	0.996722	B	0.06786	0.001	B	0.14023	0.01	T	0.22871	-1.0204	10	0.59425	D	0.04	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	552	Q9H361	PABP3_HUMAN	N	552	ENSP00000281589:K552N	ENSP00000281589:K552N	K	+	3	2	PABPC3	24569992	1.000000	0.71417	0.986000	0.45419	0.024000	0.10985	1.190000	0.32126	0.759000	0.33084	0.313000	0.20887	AAG		0.453	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		80	409	1	0	4.41824e-40	1	5.35239e-40	80	409				
CUX1	1523	broad.mit.edu	37	7	101559470	101559470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101559470G>A	ENST00000292535.7	+	2	144	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000360264.3_Missense_Mutation_p.E47K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	36					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCGGCTTATCGAACAGAGCCG	0.527																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(139-141)Gaa>Aaa		cut-like homeobox 1							137.0	127.0	130.0					7																	101559470		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101559470G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.106G>A	7.37:g.101559470G>A	ENSP00000292535:p.Glu36Lys					CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000292535.7_Missense_Mutation_p.E36K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_3'UTR	p.E47K	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			2	159	+			36					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.139G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768339	0.90020	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T;T	0.70399	1.45;1.19;1.45;-0.48;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.47	5.47	0.80525	.	0.076771	0.50627	D	0.000109	T	0.71995	0.3406	L	0.31664	0.95	0.80722	D	1	D;D;P;D;P;D	0.71674	0.998;0.985;0.882;0.991;0.669;0.998	P;B;B;P;B;P	0.54346	0.566;0.314;0.338;0.512;0.094;0.749	T	0.75317	-0.3360	10	0.66056	D	0.02	-27.7761	17.5093	0.87755	0.0:0.0:1.0:0.0	.	36;47;47;47;47;47	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	K	47;47;47;47;47;47;36;36;36;36;36	ENSP00000292538:E47K;ENSP00000449371:E47K;ENSP00000353401:E47K;ENSP00000377410:E47K;ENSP00000409745:E47K;ENSP00000414091:E47K;ENSP00000292535:E36K;ENSP00000446630:E36K;ENSP00000447373:E36K;ENSP00000450125:E36K;ENSP00000451558:E36K	ENSP00000292535:E36K	E	+	1	0	CUX1	101346190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.955000	0.93058	2.570000	0.86706	0.655000	0.94253	GAA		0.527	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		114	530	0	0	0	1	0	114	530				
GPR137	56834	broad.mit.edu	37	11	64055662	64055662	+	Silent	SNP	C	C	T	rs571034209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64055662C>T	ENST00000313074.3	+	4	864	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GPR137_ENST00000438980.2_Silent_p.Y253Y|GPR137_ENST00000539851.1_Silent_p.Y253Y|GPR137_ENST00000411458.1_Silent_p.Y311Y|GPR137_ENST00000377702.4_Intron	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	253						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTTCGATTACGACTGGTACA	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20059	0.0		0.0	False		,,,				2504	0.0					ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(757-759)taC>taT		G protein-coupled receptor 137							84.0	83.0	83.0					11																	64055662		2201	4297	6498	SO:0001819	synonymous_variant	56834					integral to membrane		g.chr11:64055662C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.759C>T	11.37:g.64055662C>T						GPR137_ENST00000313074.3_Silent_p.Y253Y|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000411458.1_Silent_p.Y311Y|GPR137_ENST00000438980.2_Silent_p.Y253Y	p.Y253Y	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			5	1226	+			253					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	37	c.759C>T	CCDS8066.1																																																																																				0.637	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		99	483	0	0	0	1	0	99	483				
SLC5A10	125206	broad.mit.edu	37	17	18918395	18918395	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18918395C>T	ENST00000395645.3	+	11	1142	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V	SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000317977.6_Missense_Mutation_p.A308V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	375					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GTGATGCTGGCGGCGCTCATG	0.672																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(922-924)gCg>gTg		solute carrier family 5 (sodium/sugar cotransporter), member 10							60.0	49.0	53.0					17																	18918395		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18918395C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1124C>T	17.37:g.18918395C>T	ENSP00000379007:p.Ala375Val					SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A375V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V	p.A308V			A0PJK1	SC5AA_HUMAN			10	1494	+			375					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.923C>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745205	0.89663	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-2.98;-3.31;-3.31	4.95	4.95	0.65309	.	0.051109	0.85682	D	0.000000	D	0.97810	0.9281	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.992;0.994;0.997;0.998	P;P;P;P;P	0.62382	0.901;0.84;0.901;0.84;0.896	D	0.99441	1.0938	10	0.87932	D	0	.	18.1393	0.89634	0.0:1.0:0.0:0.0	.	339;348;375;391;308	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	V	308;391;308;339;375;348	ENSP00000324346:A308V;ENSP00000379008:A391V;ENSP00000379004:A308V;ENSP00000401875:A339V;ENSP00000379007:A375V;ENSP00000379005:A348V	ENSP00000324346:A308V	A	+	2	0	SLC5A10	18859120	1.000000	0.71417	0.991000	0.47740	0.400000	0.30750	7.647000	0.83462	2.448000	0.82819	0.561000	0.74099	GCG		0.672	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		59	263	0	0	0	1	0	59	263				
FAM214A	56204	broad.mit.edu	37	15	52901701	52901701	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52901701C>T	ENST00000261844.7	-	6	1562	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E	FAM214A_ENST00000546305.2_Silent_p.E477E	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	470																	AAGGATTAGTCTCTCCAACAG	0.413																																						ENST00000261844.7																			0											c.(1408-1410)gaG>gaA		family with sequence similarity 214, member A							104.0	100.0	101.0					15																	52901701		1865	4091	5956	SO:0001819	synonymous_variant	56204							g.chr15:52901701C>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1410G>A	15.37:g.52901701C>T						FAM214A_ENST00000546305.2_Silent_p.E477E	p.E470E	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1562	-			470					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.1410G>A	CCDS45263.1																																																																																				0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		90	396	0	0	0	1	0	90	396				
PTRH1	138428	broad.mit.edu	37	9	130477948	130477948	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477948C>A	ENST00000419060.1	-	0	1427				PTRH1_ENST00000423807.1_De_novo_Start_OutOfFrame|PTRH1_ENST00000543175.1_5'Flank|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						ACACCGCCCCCTGACGTCATC	0.647																																						ENST00000419060.1																			0				NS(1)	1								peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							16.0	18.0	17.0					9																	130477948		2198	4295	6493			138428				translation		aminoacyl-tRNA hydrolase activity|protein binding	g.chr9:130477948C>A	AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.-30G>T	9.37:g.130477948C>A						PTRH1_ENST00000423807.1_De_novo_Start_OutOfFrame|C9orf117_ENST00000373293.5_3'UTR|C9orf117_ENST00000464092.1_3'UTR				Q86Y79	PTH_HUMAN			0	1427	-									Translation_Start_Site	SNP	ENST00000419060.1	37		CCDS35147.1																																																																																				0.647	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	NM_001002913		18	80	1	0	6.94344e-10	1	7.33246e-10	18	80				
DOCK9	23348	broad.mit.edu	37	13	99515346	99515346	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99515346A>C	ENST00000376460.1	-	32	3586	c.3506T>G	c.(3505-3507)tTt>tGt	p.F1169C	DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1170					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGACCAAACAGAGGCAG	0.498																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3505-3507)tTt>tGt		dedicator of cytokinesis 9							46.0	46.0	46.0					13																	99515346		1979	4165	6144	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99515346A>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3506T>G	13.37:g.99515346A>C	ENSP00000365643:p.Phe1169Cys					DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C	p.F1169C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			32	3586	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1170					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.3506T>G	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388034	0.82902	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.04	5.04	0.67666	.	0.050998	0.85682	D	0.000000	T	0.44414	0.1292	M	0.64997	1.995	0.58432	D	0.999999	P;P;D;P;D;D	0.89917	0.933;0.928;1.0;0.515;0.988;0.999	P;P;D;B;P;P	0.85130	0.664;0.541;0.997;0.438;0.887;0.894	T	0.42616	-0.9441	10	0.87932	D	0	.	15.0737	0.72059	1.0:0.0:0.0:0.0	.	1170;1169;1170;1169;1169;1170	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	C	1169;1170;1170;1170;1169;100;1170;1181;1169	ENSP00000365643:F1169C;ENSP00000341086:F1170C;ENSP00000401958:F1181C;ENSP00000406883:F1169C	ENSP00000341086:F1170C	F	-	2	0	DOCK9	98313347	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	8.905000	0.92613	2.020000	0.59435	0.459000	0.35465	TTT		0.498	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		14	40	0	0	0	1	0	14	40				
NLN	57486	broad.mit.edu	37	5	65084251	65084251	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65084251C>A	ENST00000380985.5	+	8	1443	c.1265C>A	c.(1264-1266)aCt>aAt	p.T422N	NLN_ENST00000502464.1_Missense_Mutation_p.T318N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	422						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ACACTTTATACTGTGAAGGAT	0.433																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1264-1266)aCt>aAt		neurolysin (metallopeptidase M3 family)							188.0	188.0	188.0					5																	65084251		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65084251C>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1265C>A	5.37:g.65084251C>A	ENSP00000370372:p.Thr422Asn					NLN_ENST00000502464.1_Missense_Mutation_p.T318N	p.T422N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	8	1443	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	422					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.1265C>A	CCDS3989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.865090|2.865090	0.51482|0.51482	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299|ENST00000509935	T;T;T|.	0.10573|.	2.86;2.86;2.86|.	6.07|6.07	4.25|4.25	0.50352|0.50352	Metallopeptidase, catalytic domain (1);|.	0.227351|.	0.46758|.	N|.	0.000270|.	T|.	0.33673|.	0.0871|.	N|N	0.04820|0.04820	-0.15|-0.15	0.46185|0.46185	D|D	0.998912|0.998912	B;B;B|.	0.21753|.	0.06;0.002;0.026|.	B;B;B|.	0.23150|.	0.042;0.017;0.044|.	T|.	0.15321|.	-1.0441|.	10|.	0.37606|.	T|.	0.19|.	-9.5094|-9.5094	11.6743|11.6743	0.51422|0.51422	0.1232:0.8122:0.0:0.0646|0.1232:0.8122:0.0:0.0646	.|.	117;422;422|.	Q96K48;Q9BYT8;Q9BQD0|.	.;NEUL_HUMAN;.|.	N|X	422;318;422;150|18	ENSP00000370372:T422N;ENSP00000423214:T318N;ENSP00000427417:T150N|.	ENSP00000339283:T422N|.	T|Y	+|+	2|3	0|2	NLN|NLN	65120007|65120007	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.769000|3.769000	0.55303|0.55303	1.535000|1.535000	0.49220|0.49220	0.655000|0.655000	0.94253|0.94253	ACT|TAC		0.433	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			27	1293	1	0	1.2644e-06	1	1.30616e-06	27	1293				
RFC1	5981	broad.mit.edu	37	4	39322915	39322915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39322915G>A	ENST00000381897.1	-	8	933	c.800C>T	c.(799-801)cCt>cTt	p.P267L	RFC1_ENST00000349703.2_Missense_Mutation_p.P267L|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	267					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTTATGAGGATATTTATG	0.323																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(799-801)cCt>cTt		replication factor C (activator 1) 1, 145kDa							171.0	167.0	168.0					4																	39322915		2202	4299	6501	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39322915G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.800C>T	4.37:g.39322915G>A	ENSP00000371321:p.Pro267Leu					RFC1_ENST00000349703.2_Missense_Mutation_p.P267L|RFC1_ENST00000418436.1_5'UTR	p.P267L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			8	933	-			267					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.800C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059602	0.36373	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.53640	0.61;0.61	4.81	3.97	0.46021	.	0.901960	0.09779	N	0.756915	T	0.45597	0.1350	L	0.57536	1.79	0.38095	D	0.937084	B;B	0.15141	0.007;0.012	B;B	0.13407	0.003;0.009	T	0.35798	-0.9774	10	0.33940	T	0.23	-7.1936	11.0667	0.47979	0.1565:0.0:0.8435:0.0	.	267;267	P35251;P35251-2	RFC1_HUMAN;.	L	267	ENSP00000371321:P267L;ENSP00000261424:P267L	ENSP00000261424:P267L	P	-	2	0	RFC1	38999310	0.998000	0.40836	0.940000	0.37924	0.732000	0.41865	1.280000	0.33202	1.355000	0.45865	-0.127000	0.14921	CCT		0.323	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		41	243	0	0	0	1	0	41	243				
SUSD1	64420	broad.mit.edu	37	9	114874056	114874056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114874056G>A	ENST00000374270.3	-	8	1221	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I|SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	350						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGTCTGTGGTCAAGTTGAC	0.532																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1048-1050)aCc>aTc		sushi domain containing 1							269.0	224.0	240.0					9																	114874056		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114874056G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1049C>T	9.37:g.114874056G>A	ENSP00000363388:p.Thr350Ile					SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I|SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I	p.T350I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			8	1221	-			350					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1049C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.624689|3.624689	0.66901|0.66901	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.74632	.|-0.79;-0.81;-0.86	5.61|5.61	4.69|4.69	0.59074|0.59074	.|.	.|0.132704	.|0.34652	.|N	.|0.003797	D|D	0.85256|0.85256	0.5655|0.5655	M|M	0.82823|0.82823	2.61|2.61	0.32752|0.32752	N|N	0.506256|0.506256	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.992;0.999	D|D	0.87466|0.87466	0.2411|0.2411	5|10	.|0.30854	.|T	.|0.27	-7.586|-7.586	12.0414|12.0414	0.53454|0.53454	0.0:0.0:0.8275:0.1725|0.0:0.0:0.8275:0.1725	.|.	.|350;350;350	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|I	164|350	.|ENSP00000363388:T350I;ENSP00000363381:T350I;ENSP00000363382:T350I	.|ENSP00000363381:T350I	P|T	-|-	1|2	0|0	SUSD1|SUSD1	113913877|113913877	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.921000|0.921000	0.55340|0.55340	3.367000|3.367000	0.52350|0.52350	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.532	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		63	297	0	0	0	1	0	63	297				
FAT2	2196	broad.mit.edu	37	5	150925761	150925761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925761G>A	ENST00000261800.5	-	9	4939	c.4927C>T	c.(4927-4929)Ctg>Ttg	p.L1643L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1643	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTAGCCAGGTCATGCCAT	0.463																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4927-4929)Ctg>Ttg		FAT atypical cadherin 2							124.0	120.0	121.0					5																	150925761		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925761G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4927C>T	5.37:g.150925761G>A							p.L1643L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	4939	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1643			Cadherin 14.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.4927C>T	CCDS4317.1																																																																																				0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		17	282	0	0	0	1	0	17	282				
NCAM2	4685	broad.mit.edu	37	21	22840987	22840987	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22840987A>G	ENST00000400546.1	+	14	2028	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	NCAM2_ENST00000284894.7_Silent_p.E451E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	593	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATCTAGGTGAACCAAGTCCTC	0.363																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1777-1779)gaA>gaG		neural cell adhesion molecule 2							94.0	87.0	89.0					21																	22840987		1881	4105	5986	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22840987A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1779A>G	21.37:g.22840987A>G						NCAM2_ENST00000284894.7_Silent_p.E451E	p.E593E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	14	2028	+		Lung NSC(9;0.195)	593			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1779A>G	CCDS42910.1																																																																																				0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		32	243	0	0	0	1	0	32	243				
PARP14	54625	broad.mit.edu	37	3	122405935	122405935	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122405935G>A	ENST00000474629.2	+	3	596	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGAATCCAAGACCAAAGAAG	0.378																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(328-330)aaG>aaA		poly (ADP-ribose) polymerase family, member 14							92.0	86.0	88.0					3																	122405935		1863	4109	5972	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122405935G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.330G>A	3.37:g.122405935G>A							p.K110K	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	3	596	+			110					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.330G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.849109	0.02651	.	.	ENSG00000173193	ENST00000494811	.	.	.	5.05	2.18	0.27775	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	3.4574	0.07521	0.0919:0.1566:0.5622:0.1894	.	.	.	.	N	119	.	.	D	+	1	0	PARP14	123888625	0.394000	0.25246	0.033000	0.17914	0.408000	0.30992	0.663000	0.25053	0.267000	0.21916	0.561000	0.74099	GAC		0.378	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		5	51	0	0	0	1	0	5	51				
PSD4	23550	broad.mit.edu	37	2	113955419	113955419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955419G>A	ENST00000245796.6	+	14	2748	c.2553G>A	c.(2551-2553)acG>acA	p.T851T	PSD4_ENST00000441564.3_Silent_p.T822T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	851	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.T851T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCCGCCACGCATTACACCA	0.652																																						ENST00000245796.6																			1	Substitution - coding silent(1)	p.T851T(1)	endometrium(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2551-2553)acG>acA		pleckstrin and Sec7 domain containing 4							32.0	33.0	33.0					2																	113955419		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955419G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2553G>A	2.37:g.113955419G>A						PSD4_ENST00000441564.2_Silent_p.T822T	p.T851T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			14	2748	+			851			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.2553G>A	CCDS33276.1																																																																																				0.652	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		32	213	0	0	0	1	0	32	213				
SYT13	57586	broad.mit.edu	37	11	45307687	45307687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45307687G>T	ENST00000020926.3	-	1	183	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	24					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGTGACCCCGCACAACGCGA	0.706																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(70-72)tgC>tgA		synaptotagmin XIII							16.0	15.0	15.0					11																	45307687		2194	4292	6486	SO:0001587	stop_gained	57586					transport vesicle		g.chr11:45307687G>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.72C>A	11.37:g.45307687G>T	ENSP00000020926:p.Cys24*						p.C24*	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			1	183	-			24					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Nonsense_Mutation	SNP	ENST00000020926.3	37	c.72C>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656339	0.88056	.	.	ENSG00000019505	ENST00000020926	.	.	.	3.75	0.564	0.17302	.	0.000000	0.64402	U	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.6769	0.28490	0.3094:0.0:0.6906:0.0	.	.	.	.	X	24	.	ENSP00000020926:C24X	C	-	3	2	SYT13	45264263	0.998000	0.40836	1.000000	0.80357	0.328000	0.28507	0.454000	0.21827	0.079000	0.16929	-0.680000	0.03767	TGC		0.706	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		17	51	1	0	1.99824e-07	1	2.07512e-07	17	51				
ATOH1	474	broad.mit.edu	37	4	94750764	94750764	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94750764C>T	ENST00000306011.3	+	1	723	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	229					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCCTCCAGCCTCCTGCAAAA	0.647																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(685-687)gcC>gcT		atonal homolog 1 (Drosophila)							26.0	30.0	29.0					4																	94750764		2199	4292	6491	SO:0001819	synonymous_variant	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750764C>T	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.687C>T	4.37:g.94750764C>T							p.A229A	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	723	+		Hepatocellular(203;0.114)	229					Q14CT9	Silent	SNP	ENST00000306011.3	37	c.687C>T	CCDS3638.1																																																																																				0.647	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		85	314	0	0	0	1	0	85	314				
OR8D4	338662	broad.mit.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123777647G>T	ENST00000321355.2	+	1	539	c.509G>T	c.(508-510)gGa>gTa	p.G170V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(508-510)gGa>gTa		olfactory receptor, family 8, subfamily D, member 4							218.0	214.0	216.0					11																	123777647		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777647G>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.509G>T	11.37:g.123777647G>T	ENSP00000325381:p.Gly170Val						p.G170V	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	539	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	170					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.509G>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629197	0.28978	.	.	ENSG00000181518	ENST00000321355	T	0.38401	1.14	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.58935	0.2157	M	0.88704	2.975	0.09310	N	1	P	0.50528	0.936	P	0.62885	0.908	T	0.50516	-0.8819	10	0.51188	T	0.08	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	V	170	ENSP00000325381:G170V	ENSP00000325381:G170V	G	+	2	0	OR8D4	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA		0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		100	1150	1	0	6.88731e-43	1	8.39682e-43	100	1150				
SLC18A3	6572	broad.mit.edu	37	10	50819427	50819427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819427T>C	ENST00000374115.3	+	1	1081	c.641T>C	c.(640-642)cTg>cCg	p.L214P	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	214					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGTCGTGCACTGGGCGTGGCG	0.667																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(640-642)cTg>cCg		solute carrier family 18 (vesicular acetylcholine transporter), member 3							29.0	35.0	33.0					10																	50819427		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819427T>C	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.641T>C	10.37:g.50819427T>C	ENSP00000363229:p.Leu214Pro					CHAT_ENST00000339797.1_Intron	p.L214P	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1081	+			214					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.641T>C	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230827	0.79688	.	.	ENSG00000187714	ENST00000374115	T	0.61040	0.14	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.52532	U	0.000064	T	0.79764	0.4502	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84248	0.0476	10	0.87932	D	0	-1.6294	15.1805	0.72952	0.0:0.0:0.0:1.0	.	214	Q16572	VACHT_HUMAN	P	214	ENSP00000363229:L214P	ENSP00000363229:L214P	L	+	2	0	SLC18A3	50489433	1.000000	0.71417	0.957000	0.39632	0.966000	0.64601	7.846000	0.86887	1.994000	0.58287	0.459000	0.35465	CTG		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		5	126	0	0	0	1	0	5	126				
LRFN3	79414	broad.mit.edu	37	19	36435681	36435681	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36435681C>A	ENST00000588831.1	+	4	2701	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A	LRFN3_ENST00000246529.3_Silent_p.A549A|AF038458.3_ENST00000592518.1_lincRNA			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	549					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCATCGTAGCCTCGGTACTGG	0.667																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1645-1647)gcC>gcA		leucine rich repeat and fibronectin type III domain containing 3							41.0	29.0	33.0					19																	36435681		2203	4300	6503	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36435681C>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1647C>A	19.37:g.36435681C>A						LRFN3_ENST00000246529.3_Silent_p.A549A	p.A549A			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	2701	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		549					Q6UY10	Silent	SNP	ENST00000588831.1	37	c.1647C>A	CCDS12483.1																																																																																				0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		35	129	1	0	3.90053e-15	1	4.25374e-15	35	129				
TMEM86A	144110	broad.mit.edu	37	11	18722484	18722484	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18722484A>C	ENST00000280734.2	+	2	122	c.26A>C	c.(25-27)aAg>aCg	p.K9T	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	9						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTCCAGGTGAAGAGTGAAGGA	0.572																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(25-27)aAg>aCg		transmembrane protein 86A							145.0	129.0	134.0					11																	18722484		2199	4293	6492	SO:0001583	missense	144110					integral to membrane		g.chr11:18722484A>C	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.26A>C	11.37:g.18722484A>C	ENSP00000280734:p.Lys9Thr					TMEM86A_ENST00000527002.1_3'UTR	p.K9T	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			2	122	+			9					Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	c.26A>C	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716213	0.68844	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.29655	1.56	4.09	4.09	0.47781	.	0.119442	0.56097	D	0.000028	T	0.48429	0.1499	M	0.67397	2.05	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.45026	-0.9289	10	0.46703	T	0.11	-6.8659	8.3037	0.32029	0.9098:0.0:0.0902:0.0	.	9	Q8N2M4	TM86A_HUMAN	T	9	ENSP00000280734:K9T	ENSP00000280734:K9T	K	+	2	0	TMEM86A	18679060	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.952000	0.75989	1.850000	0.53721	0.379000	0.24179	AAG		0.572	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		141	526	0	0	0	1	0	141	526				
RHOT2	89941	broad.mit.edu	37	16	721946	721946	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721946C>T	ENST00000315082.4	+	13	1155	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	347					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGCTCCCACGCACAGTCCGCA	0.701																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1039-1041)cgC>cgT		ras homolog family member T2							50.0	61.0	57.0					16																	721946		2201	4296	6497	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721946C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1041C>T	16.37:g.721946C>T							p.R347R	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			13	1155	+		Hepatocellular(780;0.0218)	347					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.1041C>T	CCDS10417.1																																																																																				0.701	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		128	563	0	0	0	1	0	128	563				
TENM4	26011	broad.mit.edu	37	11	78369427	78369427	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369427G>A	ENST00000278550.7	-	34	8448	c.7986C>T	c.(7984-7986)cgC>cgT	p.R2662R		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2662					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTCTGTGTAGCGTCTAGTCC	0.602																																						ENST00000278550.7																			0											c.(7984-7986)cgC>cgT		teneurin transmembrane protein 4							61.0	69.0	66.0					11																	78369427		2120	4251	6371	SO:0001819	synonymous_variant	26011							g.chr11:78369427G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7986C>T	11.37:g.78369427G>A							p.R2662R	NM_001098816.2	NP_001092286.2					34	8448	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7986C>T	CCDS44688.1																																																																																				0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			28	139	0	0	0	1	0	28	139				
AATK	9625	broad.mit.edu	37	17	79094443	79094443	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094443G>T	ENST00000326724.4	-	11	3317	c.3293C>A	c.(3292-3294)tCc>tAc	p.S1098Y	AATK_ENST00000417379.1_Missense_Mutation_p.S995Y	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1098	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAAAACTGGGAGCAGCTGGG	0.682																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3292-3294)tCc>tAc		apoptosis-associated tyrosine kinase							7.0	8.0	8.0					17																	79094443		1810	4027	5837	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094443G>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3293C>A	17.37:g.79094443G>T	ENSP00000324196:p.Ser1098Tyr					AATK_ENST00000417379.1_Missense_Mutation_p.S995Y	p.S1098Y	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3317	-	all_neural(118;0.101)		1098			Pro-rich.		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.3293C>A	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291234|3.291234	0.59976|0.59976	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.79940	.|-1.32	4.54|4.54	3.56|3.56	0.40772|0.40772	.|.	.|1.012940	.|0.07905	.|N	.|0.973247	T|T	0.71443|0.71443	0.3340|0.3340	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.50528	.|0.936	.|B	.|0.43225	.|0.412	T|T	0.63945|0.63945	-0.6522|-0.6522	5|10	.|0.72032	.|D	.|0.01	.|.	4.491|4.491	0.11813|0.11813	0.0901:0.1521:0.6013:0.1564|0.0901:0.1521:0.6013:0.1564	.|.	.|1098	.|Q6ZMQ8	.|LMTK1_HUMAN	T|Y	1051|1098	.|ENSP00000324196:S1098Y	.|ENSP00000324196:S1098Y	P|S	-|-	1|2	0|0	AATK|AATK	76709038|76709038	0.005000|0.005000	0.15991|0.15991	0.026000|0.026000	0.17262|0.17262	0.563000|0.563000	0.35712|0.35712	0.421000|0.421000	0.21280|0.21280	2.072000|2.072000	0.62099|0.62099	0.297000|0.297000	0.19635|0.19635	CCC|TCC		0.682	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		11	47	1	0	0.000673444	1	0.000681208	11	47				
JAG2	3714	broad.mit.edu	37	14	105617706	105617706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105617706C>T	ENST00000331782.3	-	9	1584	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	394	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACCGGCCGCACACGGGTTCGA	0.657																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1180-1182)tGt>tAt		jagged 2							36.0	34.0	35.0					14																	105617706		2203	4300	6503	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105617706C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1181G>A	14.37:g.105617706C>T	ENSP00000328169:p.Cys394Tyr					JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y	p.C394Y	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	9	1584	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	394			EGF-like 5; calcium-binding (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1181G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235646	0.58886	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.99992	-12.4;-12.4	3.76	3.76	0.43208	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	U	0.000000	D	0.99994	0.9999	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99989	1.3819	10	0.87932	D	0	.	13.0718	0.59066	0.0:1.0:0.0:0.0	.	394;394	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Y	394	ENSP00000328169:C394Y;ENSP00000328566:C394Y	ENSP00000328169:C394Y	C	-	2	0	JAG2	104688751	1.000000	0.71417	0.446000	0.26920	0.386000	0.30323	5.834000	0.69361	1.610000	0.50200	0.297000	0.19635	TGT		0.657	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			36	153	0	0	0	1	0	36	153				
CYP4Z2P	163720	broad.mit.edu	37	1	47348859	47348859	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47348859C>T	ENST00000505841.1	-	0	604					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAACTGGATGCTGCCCTGGTG	0.488																																						ENST00000505841.1																			0																																																			0							g.chr1:47348859C>T	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47348859C>T								NR_002788.2						0	604	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.488	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		68	307	0	0	0	1	0	68	307				
LOXL2	4017	broad.mit.edu	37	8	23217627	23217627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23217627G>A	ENST00000389131.3	-	3	876	c.507C>T	c.(505-507)gaC>gaT	p.D169D	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	169					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCAACGAATTGTCAAATTTGA	0.478																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(505-507)gaC>gaT		lysyl oxidase-like 2							119.0	105.0	110.0					8																	23217627		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23217627G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.507C>T	8.37:g.23217627G>A						RP11-177H13.2_ENST00000519692.1_RNA	p.D169D	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	3	876	-		Prostate(55;0.0453)|Breast(100;0.143)	169					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.507C>T	CCDS34864.1																																																																																				0.478	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			42	289	0	0	0	1	0	42	289				
MYO5C	55930	broad.mit.edu	37	15	52513390	52513390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52513390G>A	ENST00000261839.7	-	30	3851	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1230						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTCAGGCGGATTTCAAGAT	0.348																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3688-3690)atC>atT		myosin VC							117.0	109.0	111.0					15																	52513390		1829	4075	5904	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52513390G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3690C>T	15.37:g.52513390G>A							p.I1230I	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	30	3851	-			1230					Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.3690C>T	CCDS42036.1																																																																																				0.348	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		42	274	0	0	0	1	0	42	274				
NCAPG2	54892	broad.mit.edu	37	7	158473475	158473475	+	Missense_Mutation	SNP	G	G	A	rs201348020		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158473475G>A	ENST00000409423.1	-	11	1130	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	NCAPG2_ENST00000409339.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	320					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACTCCCTGCCGAACTTTCTTT	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		16217	0.0		0.001	False		,,,				2504	0.0					ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(958-960)Cgg>Tgg		non-SMC condensin II complex, subunit G2							79.0	75.0	76.0					7																	158473475		1805	4069	5874	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158473475G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.958C>T	7.37:g.158473475G>A	ENSP00000386569:p.Arg320Trp					NCAPG2_ENST00000409423.1_Missense_Mutation_p.R320W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W	p.R320W			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	10	1071	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	320					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.958C>T	CCDS43686.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.22	2.768352	0.49680	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.22	5.22	0.72569	Armadillo-type fold (1);	0.297322	0.37261	N	0.002179	T	0.67325	0.2881	L	0.57536	1.79	0.47737	D	0.999508	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.69658	-0.5086	10	0.87932	D	0	-20.4179	19.1636	0.93544	0.0:0.0:1.0:0.0	.	320;112;320	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	W	320;320;112;320;320	ENSP00000348657:R320W;ENSP00000386569:R320W;ENSP00000275830:R112W;ENSP00000387007:R320W;ENSP00000388326:R320W	ENSP00000275830:R112W	R	-	1	2	NCAPG2	158166236	1.000000	0.71417	0.187000	0.23214	0.144000	0.21451	5.086000	0.64474	2.590000	0.87494	0.655000	0.94253	CGG		0.323	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		29	367	0	0	0	1	0	29	367				
HIPK4	147746	broad.mit.edu	37	19	40895661	40895661	+	Missense_Mutation	SNP	C	C	T	rs146668696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40895661C>T	ENST00000291823.2	-	1	433	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTGATGATGCGGTTGCGGTA	0.607																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(148-150)cGc>cAc		homeodomain interacting protein kinase 4		C	HIS/ARG	0,4406		0,0,2203	166.0	141.0	149.0		149	2.8	0.9	19	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	missense	HIPK4	NM_144685.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	50/617	40895661	1,13005	2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40895661C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.149G>A	19.37:g.40895661C>T	ENSP00000291823:p.Arg50His						p.R50H	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	433	-			50			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.149G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692122	0.30052	0.0	1.16E-4	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.65916	-0.18	4.93	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127834	0.36303	N	0.002673	T	0.45677	0.1354	N	0.25485	0.75	0.25777	N	0.984778	B	0.13145	0.007	B	0.14578	0.011	T	0.41270	-0.9518	10	0.56958	D	0.05	.	8.2578	0.31766	0.0:0.7512:0.0:0.2488	.	50	Q8NE63	HIPK4_HUMAN	H	50;15	ENSP00000291823:R50H	ENSP00000291823:R50H	R	-	2	0	HIPK4	45587501	0.006000	0.16342	0.928000	0.36995	0.676000	0.39594	0.548000	0.23314	0.697000	0.31718	-0.983000	0.02560	CGC		0.607	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		105	747	0	0	0	1	0	105	747				
QSOX2	169714	broad.mit.edu	37	9	139100954	139100954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139100954C>T	ENST00000358701.5	-	12	1754	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	573					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCCTGGTCTGCGGAATACGTG	0.572																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1717-1719)Gca>Aca		quiescin Q6 sulfhydryl oxidase 2							92.0	89.0	90.0					9																	139100954		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100954C>T	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1717G>A	9.37:g.139100954C>T	ENSP00000351536:p.Ala573Thr						p.A573T	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	1754	-		Myeloproliferative disorder(178;0.0511)	573					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1717G>A	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850954	0.51270	.	.	ENSG00000165661	ENST00000358701	T	0.17054	2.3	4.91	4.91	0.64330	.	1.152020	0.06417	N	0.721648	T	0.15262	0.0368	L	0.50333	1.59	0.09310	N	1	P	0.44006	0.824	B	0.25405	0.06	T	0.36359	-0.9751	10	0.09843	T	0.71	-2.7184	17.1404	0.86752	0.0:1.0:0.0:0.0	.	573	Q6ZRP7	QSOX2_HUMAN	T	573	ENSP00000351536:A573T	ENSP00000351536:A573T	A	-	1	0	QSOX2	138240775	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.791000	0.26915	2.258000	0.74832	0.558000	0.71614	GCA		0.572	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		77	380	0	0	0	1	0	77	380				
MRPS31P5	100887750	broad.mit.edu	37	13	52744196	52744196	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52744196G>A	ENST00000451298.1	-	0	2125				MRPS31P5_ENST00000416599.1_RNA																							CAGCAACTACGTAGAAACAGA	0.338																																						ENST00000451298.1																			0																																																			0							g.chr13:52744196G>A																													13.37:g.52744196G>A						RP11-64P12.8_ENST00000606031.1_RNA								0	2125	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.338	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			12	72	0	0	0	1	0	12	72				
SEC31B	25956	broad.mit.edu	37	10	102265204	102265204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102265204G>A	ENST00000370345.3	-	10	1190	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	365					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTTGCTCTGGCACCTGCAGT	0.517																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1093-1095)Cca>Tca		SEC31 homolog B (S. cerevisiae)							149.0	156.0	154.0					10																	102265204		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265204G>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1093C>T	10.37:g.102265204G>A	ENSP00000359370:p.Pro365Ser					SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	p.P365S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1190	-		Colorectal(252;0.117)	365					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1093C>T	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117907	0.77323	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.57907	0.62;0.37	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.79805	2.47	0.80722	D	1	P;P	0.38800	0.648;0.517	B;B	0.43658	0.426;0.191	T	0.67608	-0.5627	10	0.56958	D	0.05	-12.2986	19.0888	0.93217	0.0:0.0:1.0:0.0	.	364;365	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	365	ENSP00000359370:P365S;ENSP00000391178:P365S	ENSP00000359370:P365S	P	-	1	0	SEC31B	102255194	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.386000	0.59620	2.757000	0.94681	0.561000	0.74099	CCA		0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		176	646	0	0	0	1	0	176	646				
GPR64	10149	broad.mit.edu	37	X	19028891	19028891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19028891C>T	ENST00000379869.3	-	17	1268	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	GPR64_ENST00000379878.3_Missense_Mutation_p.V353I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I|GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	369					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGTTGACGATGTCTATA	0.438																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1057-1059)Gtc>Atc		G protein-coupled receptor 64							132.0	100.0	111.0					X																	19028891		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19028891C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1105G>A	X.37:g.19028891C>T	ENSP00000369198:p.Val369Ile					GPR64_ENST00000379869.3_Missense_Mutation_p.V369I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I	p.V353I	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			16	1298	-	Hepatocellular(33;0.183)		369					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1057G>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183340	0.09495	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.34859	1.41;1.52;1.52;1.52;1.51;1.56;1.51;1.56;1.56;1.34	5.81	-0.0528	0.13820	.	1.173110	0.06308	N	0.702179	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.20671	0.007;0.012;0.014;0.005;0.005;0.047;0.047;0.047;0.027;0.003;0.008	B;B;B;B;B;B;B;B;B;B;B	0.15484	0.002;0.008;0.013;0.008;0.008;0.013;0.013;0.013;0.013;0.004;0.005	T	0.28038	-1.0056	10	0.48119	T	0.1	.	0.9248	0.01322	0.4206:0.2507:0.1223:0.2064	.	339;331;339;345;353;369;347;355;366;369;353	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	369;353;353;345;339;369;347;366;355;339	ENSP00000369202:V369I;ENSP00000369207:V353I;ENSP00000346845:V353I;ENSP00000369205:V345I;ENSP00000350152:V339I;ENSP00000369198:V369I;ENSP00000353421:V347I;ENSP00000350680:V366I;ENSP00000349015:V355I;ENSP00000344972:V339I	ENSP00000344972:V339I	V	-	1	0	GPR64	18938812	0.199000	0.23386	0.001000	0.08648	0.050000	0.14768	-0.188000	0.09642	-0.065000	0.13021	0.600000	0.82982	GTC		0.438	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			86	301	0	0	0	1	0	86	301				
ARMCX6	54470	broad.mit.edu	37	X	100871474	100871474	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100871474T>C	ENST00000361910.4	-	3	481	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ARMCX6_ENST00000539247.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	46						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						ctggtcatcgtcccactcctc	0.537																																						ENST00000539247.1																			0				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						c.(136-138)gAc>gGc		armadillo repeat containing, X-linked 6							92.0	84.0	87.0					X																	100871474		2203	4300	6503	SO:0001583	missense	54470					integral to membrane		g.chrX:100871474T>C	BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.137A>G	X.37:g.100871474T>C	ENSP00000354708:p.Asp46Gly					ARMCX6_ENST00000361910.4_Missense_Mutation_p.D46G|ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron	p.D46G	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN			4	569	-			46					Q9NWJ3	Missense_Mutation	SNP	ENST00000361910.4	37	c.137A>G	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	7.500	0.652539	0.14580	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.52295	0.67;0.67;0.67	3.71	2.55	0.30701	.	0.616408	0.13717	N	0.367662	T	0.33731	0.0873	L	0.38175	1.15	0.24072	N	0.99597	B	0.12013	0.005	B	0.08055	0.003	T	0.24941	-1.0146	10	0.52906	T	0.07	-1.718	4.934	0.13932	0.0:0.1394:0.0:0.8606	.	46	Q7L4S7	ARMX6_HUMAN	G	46	ENSP00000354708:D46G;ENSP00000444537:D46G;ENSP00000440648:D46G	ENSP00000354708:D46G	D	-	2	0	ARMCX6	100758130	0.954000	0.32549	0.643000	0.29450	0.418000	0.31294	1.764000	0.38471	0.628000	0.30357	0.385000	0.25706	GAC		0.537	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	NM_019007		63	300	0	0	0	1	0	63	300				
C1orf158	93190	broad.mit.edu	37	1	12819304	12819304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12819304G>A	ENST00000288048.5	+	3	503	c.287G>A	c.(286-288)aGc>aAc	p.S96N	C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	96										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGATCAGCACCTATGAC	0.562																																						ENST00000288048.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10						c.(286-288)aGc>aAc		chromosome 1 open reading frame 158							206.0	206.0	206.0					1																	12819304		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12819304G>A	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.287G>A	1.37:g.12819304G>A	ENSP00000288048:p.Ser96Asn					C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	p.S96N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	503	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	96					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.287G>A	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804930	0.70682	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.62788	0.0;0.25	5.17	5.17	0.71159	.	0.115133	0.56097	D	0.000026	T	0.78898	0.4356	M	0.79475	2.455	0.50171	D	0.999856	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.81625	-0.0848	10	0.87932	D	0	-32.5078	14.1817	0.65578	0.0:0.0:1.0:0.0	.	96;96	B4DQE0;Q8N1D5	.;CA158_HUMAN	N	96;58	ENSP00000288048:S96N;ENSP00000365383:S58N	ENSP00000288048:S96N	S	+	2	0	C1orf158	12741891	0.991000	0.36638	0.998000	0.56505	0.605000	0.37080	2.100000	0.41777	2.428000	0.82296	0.655000	0.94253	AGC		0.562	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		51	966	0	0	0	1	0	51	966				
PANK2	80025	broad.mit.edu	37	20	3869814	3869814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3869814C>T	ENST00000316562.4	+	1	73	c.67C>T	c.(67-69)Cta>Tta	p.L23L	RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_5'Flank|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	23					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCTTCTGGGCTACACCGCCT	0.672																																						ENST00000316562.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(67-69)Cta>Tta		pantothenate kinase 2							26.0	20.0	22.0					20																	3869814		2197	4298	6495	SO:0001819	synonymous_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3869814C>T	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.67C>T	20.37:g.3869814C>T						PANK2_ENST00000497424.1_Intron	p.L23L	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN			1	73	+			23					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	c.67C>T	CCDS13071.2																																																																																				0.672	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		10	52	0	0	0	1	0	10	52				
RRP8	23378	broad.mit.edu	37	11	6622562	6622562	+	Missense_Mutation	SNP	C	C	T	rs199533609		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6622562C>T	ENST00000254605.6	-	3	851	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|RRP8_ENST00000534343.1_Intron|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	245					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCCATCCAGCCGCTGTGCCAT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17893	0.001		0.0	False		,,,				2504	0.0					ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(733-735)cGg>cAg		ribosomal RNA processing 8, methyltransferase, homolog (yeast)		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	28.0	28.0	28.0		734	5.8	0.8	11		28	0,8592		0,0,4296	no	missense	RRP8	NM_015324.3	43	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	245/457	6622562	1,12993	2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622562C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.734G>A	11.37:g.6622562C>T	ENSP00000254605:p.Arg245Gln					RRP8_ENST00000534343.1_Intron	p.R245Q	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			3	851	-			245					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.734G>A	CCDS31411.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.83	3.900420	0.72754	2.27E-4	0.0	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	.	0.058855	0.64402	D	0.000002	T	0.32071	0.0817	N	0.20685	0.6	0.80722	D	1	P	0.44816	0.844	B	0.32149	0.141	T	0.17198	-1.0377	10	0.42905	T	0.14	-6.5464	18.7357	0.91753	0.0:1.0:0.0:0.0	.	245	O43159	RRP8_HUMAN	Q	245	ENSP00000254605:R245Q;ENSP00000436246:R245Q	ENSP00000254605:R245Q	R	-	2	0	RRP8	6579138	1.000000	0.71417	0.767000	0.31495	0.969000	0.65631	5.095000	0.64529	2.773000	0.95371	0.650000	0.86243	CGG		0.607	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		22	148	0	0	0	1	0	22	148				
ATP6V0A1	535	broad.mit.edu	37	17	40660601	40660601	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40660601C>T	ENST00000343619.4	+	19	2247	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000544137.1_Silent_p.D354D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	708					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTTCCGAGGACGAAGTGGTAA	0.527																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(2122-2124)gaC>gaT		ATPase, H+ transporting, lysosomal V0 subunit a1							166.0	145.0	152.0					17																	40660601		1568	3582	5150	SO:0001819	synonymous_variant	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40660601C>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2124C>T	17.37:g.40660601C>T						ATP6V0A1_ENST00000544137.1_Silent_p.D354D|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000546249.1_Intron	p.D708D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	19	2247	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	708					B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	c.2124C>T	CCDS45684.1																																																																																				0.527	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		61	296	0	0	0	1	0	61	296				
MACF1	23499	broad.mit.edu	37	1	39851413	39851413	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851413T>C	ENST00000372915.3	+	56	14258	c.14171T>C	c.(14170-14172)gTa>gCa	p.V4724A	MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000564288.1_Missense_Mutation_p.V4719A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4724					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGGCTGTAAAGCAGCAA	0.517																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14155-14157)gTa>gCa		microtubule-actin crosslinking factor 1							85.0	81.0	83.0					1																	39851413		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39851413T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14171T>C	1.37:g.39851413T>C	ENSP00000362006:p.Val4724Ala					MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000372915.3_Missense_Mutation_p.V4724A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A	p.V4719A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		57	14933	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4724					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14156T>C		.	.	.	.	.	.	.	.	.	.	T	27.6	4.846298	0.91277	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	T	0.58538	0.2129	M	0.63843	1.955	0.49798	D	0.999821	D;D;D	0.65815	0.995;0.958;0.958	D;P;P	0.71184	0.972;0.747;0.761	T	0.60601	-0.7231	10	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	4724;2657;2601	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	A	2657;4724;2657;2657;2636;3159	ENSP00000439537:V2657A;ENSP00000362006:V4724A;ENSP00000354573:V2657A;ENSP00000313438:V2657A;ENSP00000444364:V2636A;ENSP00000289893:V3159A	ENSP00000289893:V3159A	V	+	2	0	MACF1	39624000	1.000000	0.71417	0.968000	0.41197	0.909000	0.53808	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	GTA		0.517	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		56	219	0	0	0	1	0	56	219				
EHD2	30846	broad.mit.edu	37	19	48244498	48244498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48244498C>T	ENST00000263277.3	+	6	1692	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	EHD2_ENST00000538399.1_Missense_Mutation_p.L345F|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	481	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GGGGACCAAGCTCCCCAACTC	0.612																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1441-1443)Ctc>Ttc		EH-domain containing 2							67.0	53.0	58.0					19																	48244498		2203	4300	6503	SO:0001583	missense	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244498C>T	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1441C>T	19.37:g.48244498C>T	ENSP00000263277:p.Leu481Phe					EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.L345F	p.L481F	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1692	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	481			EF-hand.|EH.		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	c.1441C>T	CCDS12704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966356|3.966356	0.74131|0.74131	.|.	.|.	ENSG00000024422|ENSG00000024422	ENST00000454483|ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	.|T;T	.|0.49720	.|0.77;0.77	4.03|4.03	4.03|4.03	0.46877|0.46877	.|EPS15 homology (EH) (2);EF-hand-like domain (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.81616|0.81616	0.4860|0.4860	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.89471|0.89471	0.3743|0.3743	6|10	0.31617|0.87932	T|D	0.26|0	-27.2593|-27.2593	14.0469|14.0469	0.64710|0.64710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|481	.|Q9NZN4	.|EHD2_HUMAN	V|F	150|481;471;345;164	.|ENSP00000263277:L481F;ENSP00000439036:L345F	ENSP00000391634:A150V|ENSP00000263277:L481F	A|L	+|+	2|1	0|0	EHD2|EHD2	52936310|52936310	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.707000|0.707000	0.40811|0.40811	5.919000|5.919000	0.70005|0.70005	1.966000|1.966000	0.57179|0.57179	0.561000|0.561000	0.74099|0.74099	GCT|CTC		0.612	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			16	279	0	0	0	1	0	16	279				
GCNT2	2651	broad.mit.edu	37	6	10556976	10556976	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10556976C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.T107I			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CACTTTGACACCTTTGCAAGG	0.418																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(319-321)aCc>aTc		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							94.0	90.0	92.0					6																	10556976		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556976C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26907C>T	6.37:g.10556976C>T						GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron	p.T107I	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	737	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	109						Missense_Mutation	SNP	ENST00000379597.3	37	c.320C>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851425	0.71719	.	.	ENSG00000111846	ENST00000316170	T	0.11277	2.79	4.89	4.89	0.63831	.	.	.	.	.	T	0.23133	0.0559	M	0.87900	2.915	0.80722	D	1	P	0.48407	0.91	P	0.54431	0.752	T	0.02917	-1.1094	9	0.35671	T	0.21	.	18.0081	0.89215	0.0:1.0:0.0:0.0	.	107	Q06430	GNT2B_HUMAN	I	107	ENSP00000314844:T107I	ENSP00000314844:T107I	T	+	2	0	GCNT2	10664962	0.998000	0.40836	0.983000	0.44433	0.971000	0.66376	3.578000	0.53892	2.408000	0.81797	0.655000	0.94253	ACC		0.418	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		88	356	0	0	0	1	0	88	356				
TTC14	151613	broad.mit.edu	37	3	180327721	180327721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180327721G>T	ENST00000296015.4	+	12	1836	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.K568N	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	568							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTATGAAAAGACACAGATAA	0.388																																						ENST00000296015.4																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1702-1704)aaG>aaT		tetratricopeptide repeat domain 14							130.0	148.0	142.0					3																	180327721		2203	4299	6502	SO:0001583	missense	151613						RNA binding	g.chr3:180327721G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1704G>T	3.37:g.180327721G>T	ENSP00000296015:p.Lys568Asn					TTC14_ENST00000382584.4_Missense_Mutation_p.K568N|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR	p.K568N	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1836	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		568					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1704G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385450	0.11524	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.47869	0.83;0.83	5.19	1.29	0.21616	.	0.293840	0.38272	N	0.001747	T	0.26557	0.0649	N	0.16478	0.41	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.16289	0.015;0.002	T	0.03619	-1.1019	10	0.40728	T	0.16	-7.3015	6.0769	0.19921	0.296:0.0:0.5781:0.1259	.	568;568	Q96N46-2;Q96N46	.;TTC14_HUMAN	N	568	ENSP00000296015:K568N;ENSP00000372027:K568N	ENSP00000296015:K568N	K	+	3	2	TTC14	181810415	1.000000	0.71417	0.996000	0.52242	0.519000	0.34347	1.534000	0.36051	0.100000	0.17581	-0.136000	0.14681	AAG		0.388	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		198	826	1	0	2.5812e-89	1	3.31226e-89	198	826				
P2RY11	5032	broad.mit.edu	37	19	10226166	10226166	+	IGR	SNP	G	G	A	rs149739513		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10226166G>A	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Silent_p.V312V	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGGCCCACTCGACGTTGAGGA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14434	0.0		0.0	False		,,,				2504	0.001					ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(934-936)gtC>gtT		eukaryotic translation initiation factor 3, subunit G		G		0,4406		0,0,2203	74.0	75.0	74.0		936	-7.9	0.7	19	dbSNP_134	74	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	EIF3G	NM_003755.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		312/321	10226166	4,13002	2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10226166G>A	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226166G>A							p.V312V	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		10	978	-			312			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.936C>T	CCDS12226.1																																																																																				0.627	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		9	304	0	0	0	1	0	9	304				
CD4	920	broad.mit.edu	37	12	6925373	6925373	+	Silent	SNP	C	C	A	rs200065570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6925373C>A	ENST00000011653.4	+	6	1017	c.759C>A	c.(757-759)acC>acA	p.T253T	CD4_ENST00000541982.1_3'UTR|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	253	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTTGGATCACCTTTGACCTGA	0.572																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(757-759)acC>acA		CD4 molecule							143.0	124.0	130.0					12																	6925373		2203	4300	6503	SO:0001819	synonymous_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6925373C>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.759C>A	12.37:g.6925373C>A						CD4_ENST00000541982.1_3'UTR|CD4_ENST00000538827.1_3'UTR	p.T253T	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			6	1017	+		Myeloproliferative disorder(1001;0.0122)	253			Ig-like C2-type 2.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	c.759C>A	CCDS8562.1																																																																																				0.572	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		139	681	1	0	3.42316e-88	1	4.39067e-88	139	681				
ASB2	51676	broad.mit.edu	37	14	94419708	94419708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94419708C>T	ENST00000315988.4	-	3	968	c.480G>A	c.(478-480)ccG>ccA	p.P160P	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.P208P	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	160			P -> S (in dbSNP:rs2295213).		intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTGTAGAGCGGTGTCTCTC	0.572																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(622-624)ccG>ccA		ankyrin repeat and SOCS box containing 2							103.0	113.0	109.0					14																	94419708		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94419708C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.480G>A	14.37:g.94419708C>T						ASB2_ENST00000315988.4_Silent_p.P160P|ASB2_ENST00000556337.1_Intron	p.P208P	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	5	1054	-		all_cancers(154;0.13)	160					B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.624G>A	CCDS9915.1																																																																																				0.572	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			118	632	0	0	0	1	0	118	632				
PRSS16	10279	broad.mit.edu	37	6	27222622	27222622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222622C>T	ENST00000230582.3	+	10	1316	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	434					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCAGACCCCTGGGGCTAAC	0.557																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1300-1302)cCt>cTt		protease, serine, 16 (thymus)							95.0	90.0	91.0					6																	27222622		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222622C>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1301C>T	6.37:g.27222622C>T	ENSP00000230582:p.Pro434Leu					PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L|PRSS16_ENST00000377456.2_Intron	p.P434L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1316	+			434					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1301C>T	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004151	0.35320	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14022	2.54;2.54	4.5	3.63	0.41609	.	0.370207	0.29321	N	0.012485	T	0.09642	0.0237	L	0.56396	1.775	0.24316	N	0.995068	P;D	0.52996	0.906;0.957	P;P	0.56563	0.801;0.705	T	0.09100	-1.0690	10	0.11485	T	0.65	-18.6148	8.5839	0.33646	0.0:0.8941:0.0:0.1059	.	177;434	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	L	177;434	ENSP00000404349:P177L;ENSP00000230582:P434L	ENSP00000230582:P434L	P	+	2	0	PRSS16	27330601	0.831000	0.29352	0.043000	0.18650	0.185000	0.23345	1.361000	0.34136	1.260000	0.44134	0.557000	0.71058	CCT		0.557	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			113	517	0	0	0	1	0	113	517				
SLC9A1	6548	broad.mit.edu	37	1	27429187	27429187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27429187G>A	ENST00000263980.3	-	7	2198	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	541					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGTGGTGACCGTAGTGGCCAC	0.647											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1621-1623)taC>taT		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						65.0	61.0	62.0					1																	27429187		2202	4300	6502	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27429187G>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1623C>T	1.37:g.27429187G>A			OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	794	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	p.Y541Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	7	2198	-			541					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.1623C>T	CCDS295.1																																																																																				0.647	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		13	127	0	0	0	1	0	13	127				
EXD3	54932	broad.mit.edu	37	9	140201415	140201415	+	Missense_Mutation	SNP	C	C	T	rs200221658	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140201415C>T	ENST00000340951.4	-	22	2813	c.2618G>A	c.(2617-2619)aGc>aAc	p.S873N	EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAAGGGACTGCTGGCCGGGCT	0.652																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(2617-2619)aGc>aAc		exonuclease 3'-5' domain containing 3							17.0	21.0	20.0					9																	140201415		1901	4097	5998	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140201415C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2618G>A	9.37:g.140201415C>T	ENSP00000340474:p.Ser873Asn					EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	p.S873N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			22	2813	-			873					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.2618G>A	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346028	0.41599	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.66815	-0.23;0.66	2.84	2.84	0.33178	.	.	.	.	.	T	0.51483	0.1677	L	0.29908	0.895	0.09310	N	1	P;P	0.46912	0.886;0.818	B;B	0.41174	0.349;0.257	T	0.32640	-0.9899	9	0.27082	T	0.32	.	9.2217	0.37382	0.0:1.0:0.0:0.0	.	511;873	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	511;873	ENSP00000343705:S511N;ENSP00000340474:S873N	ENSP00000340474:S873N	S	-	2	0	EXD3	139321236	0.000000	0.05858	0.019000	0.16419	0.185000	0.23345	0.565000	0.23578	1.576000	0.49790	0.491000	0.48974	AGC		0.652	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		29	152	0	0	0	1	0	29	152				
SCARA5	286133	broad.mit.edu	37	8	27737093	27737093	+	Silent	SNP	G	G	A	rs143382394	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27737093G>A	ENST00000354914.3	-	8	1829	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SCARA5_ENST00000380385.2_Silent_p.F223F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	448	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TACCTTGCCCGAATCGAGCTG	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18283	0.0		0.0	False		,,,				2504	0.0					ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1342-1344)ttC>ttT		scavenger receptor class A, member 5 (putative)		G		5,4401	9.9+/-24.2	0,5,2198	140.0	108.0	119.0		1344	-2.5	0.7	8	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	SCARA5	NM_173833.5		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		448/496	27737093	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737093G>A	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1344C>T	8.37:g.27737093G>A						SCARA5_ENST00000380385.2_Silent_p.F223F	p.F448F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1829	-		Ovarian(32;0.0218)	448			SRCR.		Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	c.1344C>T	CCDS6064.1																																																																																				0.612	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		28	578	0	0	0	1	0	28	578				
PRPF4B	8899	broad.mit.edu	37	6	4060752	4060752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4060752C>T	ENST00000337659.6	+	15	3026	c.2926C>T	c.(2926-2928)Cta>Tta	p.L976L	PRPF4B_ENST00000494674.1_3'UTR|PRPF4B_ENST00000538861.1_Silent_p.L962L	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	976	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGTACACCAGCTAAAGGACTT	0.448																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(2926-2928)Cta>Tta		pre-mRNA processing factor 4B							64.0	58.0	60.0					6																	4060752		2203	4300	6503	SO:0001819	synonymous_variant	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4060752C>T	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2926C>T	6.37:g.4060752C>T						PRPF4B_ENST00000494674.1_3'UTR|PRPF4B_ENST00000538861.1_Silent_p.L962L	p.L976L	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			15	3026	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	976			Protein kinase.		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	SNP	ENST00000337659.6	37	c.2926C>T	CCDS4488.1																																																																																				0.448	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			19	177	0	0	0	1	0	19	177				
CARM1	10498	broad.mit.edu	37	19	11024705	11024705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11024705C>T	ENST00000327064.4	+	6	1012	c.822C>T	c.(820-822)caC>caT	p.H274H	CARM1_ENST00000344150.4_Silent_p.H274H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	274	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTACCTCCACGCCAAGAAGT	0.637																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(820-822)caC>caT		coactivator-associated arginine methyltransferase 1							72.0	56.0	62.0					19																	11024705		2203	4300	6503	SO:0001819	synonymous_variant	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11024705C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.822C>T	19.37:g.11024705C>T						CARM1_ENST00000344150.4_Silent_p.H274H	p.H274H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			6	1012	+			274					A6NN38	Silent	SNP	ENST00000327064.4	37	c.822C>T	CCDS12250.1																																																																																				0.637	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		31	104	0	0	0	1	0	31	104				
TTN	7273	broad.mit.edu	37	2	179516866	179516866	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179516866C>T	ENST00000591111.1	-	159	34955	c.34731G>A	c.(34729-34731)gtG>gtA	p.V11577V	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.V13084V|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11577	Glu-rich.|Pro-rich.				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)			TAGCTTCAGGCACCTTCTTTT	0.348																																						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.(39250-39252)gtG>gtA		titin							107.0	103.0	104.0					2																	179516866		1810	4075	5885	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516866C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34731G>A	2.37:g.179516866C>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V11577V	p.V13084V	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)		204	39476	-			11437					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.39252G>A																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		128	459	0	0	0	1	0	128	459				
CNTN1	1272	broad.mit.edu	37	12	41387041	41387041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41387041C>T	ENST00000551295.2	+	17	2200	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S|CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	695	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCCAGTATACCATCTAACAG	0.393																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2083-2085)Cca>Tca		contactin 1							81.0	81.0	81.0					12																	41387041		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41387041C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2083C>T	12.37:g.41387041C>T	ENSP00000447006:p.Pro695Ser					CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S|CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S	p.P695S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			17	2200	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	695			Fibronectin type-III 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2083C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047596	0.75846	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.55234	0.53;0.53;0.53	5.2	5.2	0.72013	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.75628	-0.3252	10	0.72032	D	0.01	.	19.1136	0.93328	0.0:1.0:0.0:0.0	.	684;695	Q12860-2;Q12860	.;CNTN1_HUMAN	S	695;695;684	ENSP00000447006:P695S;ENSP00000325660:P695S;ENSP00000261160:P684S	ENSP00000325660:P695S	P	+	1	0	CNTN1	39673308	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.471000	0.66762	2.576000	0.86940	0.555000	0.69702	CCA		0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		37	209	0	0	0	1	0	37	209				
RAB13	5872	broad.mit.edu	37	1	153956050	153956050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153956050C>T	ENST00000368575.3	-	3	308	c.193G>A	c.(193-195)Gct>Act	p.A65T	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	65					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTTGGCCAGCCGTGTCCCTA	0.443																																					Ovarian(138;395 2427 24306 43415)	ENST00000368575.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11						c.(193-195)Gct>Act		RAB13, member RAS oncogene family							71.0	65.0	67.0					1																	153956050		2203	4300	6503	SO:0001583	missense	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153956050C>T	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.193G>A	1.37:g.153956050C>T	ENSP00000357564:p.Ala65Thr					RAB13_ENST00000462680.1_5'UTR	p.A65T	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	308	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		65					A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	ENST00000368575.3	37	c.193G>A	CCDS1058.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593984	0.96602	.	.	ENSG00000143545	ENST00000368575	D	0.88741	-2.42	5.54	5.54	0.83059	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.995;0.997	D	0.96841	0.9618	10	0.87932	D	0	.	17.0271	0.86450	0.0:1.0:0.0:0.0	.	65;65	D3DV69;P51153	.;RAB13_HUMAN	T	65	ENSP00000357564:A65T	ENSP00000357564:A65T	A	-	1	0	RAB13	152222674	1.000000	0.71417	0.979000	0.43373	0.933000	0.57130	7.199000	0.77831	2.890000	0.99128	0.650000	0.86243	GCT		0.443	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870		36	145	0	0	0	1	0	36	145				
ZNF230	7773	broad.mit.edu	37	19	44515396	44515396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44515396G>A	ENST00000429154.2	+	5	1433	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAGAGCTTTAGCCGGGCTTCA	0.443																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1204-1206)aGc>aAc		zinc finger protein 230							82.0	86.0	84.0					19																	44515396		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515396G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1205G>A	19.37:g.44515396G>A	ENSP00000409318:p.Ser402Asn						p.S402N	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1433	+		Prostate(69;0.0352)	402					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1205G>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217466	0.39201	.	.	ENSG00000159882	ENST00000429154	T	0.07567	3.18	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.17474	0.49	0.21499	N	0.999666	B	0.28584	0.216	B	0.28784	0.094	T	0.42849	-0.9427	9	0.20046	T	0.44	.	4.8412	0.13491	0.0:0.236:0.5236:0.2404	.	402	Q9UIE0	ZN230_HUMAN	N	402	ENSP00000409318:S402N	ENSP00000409318:S402N	S	+	2	0	ZNF230	49207236	0.000000	0.05858	0.539000	0.28077	0.880000	0.50808	0.098000	0.15189	1.280000	0.44463	0.205000	0.17691	AGC		0.443	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			118	554	0	0	0	1	0	118	554				
MYO5A	4644	broad.mit.edu	37	15	52656853	52656853	+	Silent	SNP	G	G	A	rs183302379	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52656853G>A	ENST00000399231.3	-	24	3450	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	MYO5A_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L|MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000553916.1_Silent_p.L1069L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1069					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATTAAGGTCGAGTTCCAGTT	0.388													G|||	10	0.00199681	0.0	0.0	5008	,	,		16743	0.0099		0.0	False		,,,				2504	0.0					ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3205-3207)ctC>ctT		myosin VA (heavy chain 12, myoxin)							175.0	158.0	163.0					15																	52656853		1842	4088	5930	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52656853G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3207C>T	15.37:g.52656853G>A						MYO5A_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000553916.1_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L	p.L1069L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	24	3450	-			1069					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3207C>T	CCDS42037.1																																																																																				0.388	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		47	463	0	0	0	1	0	47	463				
LRP1	4035	broad.mit.edu	37	12	57559588	57559588	+	Splice_Site	SNP	C	C	T	rs532661685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57559588C>T	ENST00000243077.3	+	16	2997	c.2531C>T	c.(2530-2532)gCg>gTg	p.A844V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	844					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCCCACAGCGAACCCATCC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16995	0.0		0.0	False		,,,				2504	0.0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.e16-1		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						68.0	69.0	68.0					12																	57559588		2203	4300	6503	SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57559588C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2531-1C>T	12.37:g.57559588C>T							p.A844_splice	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	16	2997	+			844					Q2PP12|Q86SW0|Q8IVG8	Splice_Site	SNP	ENST00000243077.3	37	c.2530_splice	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456331	0.63401	.	.	ENSG00000123384	ENST00000243077	D	0.95656	-3.77	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.90225	0.6944	N	0.26042	0.785	0.80722	D	1	B	0.15719	0.014	B	0.10450	0.005	D	0.84772	0.0768	9	.	.	.	.	11.8265	0.52269	0.0:0.9158:0.0:0.0842	.	844	Q07954	LRP1_HUMAN	V	844	ENSP00000243077:A844V	.	A	+	2	0	LRP1	55845855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.597000	0.67577	2.826000	0.97356	0.561000	0.74099	GCG		0.552	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Missense_Mutation	67	320	0	0	0	1	0	67	320				
VMP1	81671	broad.mit.edu	37	17	57917196	57917196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57917196C>T	ENST00000262291.4	+	12	1455	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	VMP1_ENST00000545362.1_Missense_Mutation_p.S326F|VMP1_ENST00000537567.1_Missense_Mutation_p.S248F|VMP1_ENST00000539763.1_Missense_Mutation_p.S190F|VMP1_ENST00000536180.1_Missense_Mutation_p.S285F|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000588617.1_3'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	382					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTCATCCTATCTATCATTAAC	0.383																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(1144-1146)tCt>tTt		vacuole membrane protein 1							257.0	242.0	247.0					17																	57917196		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57917196C>T		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1145C>T	17.37:g.57917196C>T	ENSP00000262291:p.Ser382Phe					VMP1_ENST00000539763.1_Missense_Mutation_p.S190F|VMP1_ENST00000545362.1_Missense_Mutation_p.S326F|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.S248F|VMP1_ENST00000536180.1_Missense_Mutation_p.S285F	p.S382F	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			12	1455	+			382					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.1145C>T	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900435	0.72754	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.28	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.991;0.994;0.998	D	0.88093	0.2814	9	0.87932	D	0	-9.2677	13.9998	0.64427	0.0:0.9263:0.0:0.0737	.	248;285;326;382	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	F	382;248;190;285;326	.	ENSP00000262291:S382F	S	+	2	0	VMP1	55271978	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.625000	0.83145	1.230000	0.43646	0.555000	0.69702	TCT		0.383	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		183	740	0	0	0	1	0	183	740				
ITGB4	3691	broad.mit.edu	37	17	73726545	73726545	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73726545C>A	ENST00000200181.3	+	8	1149	c.962C>A	c.(961-963)cCc>cAc	p.P321H	ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H|ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	321	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACATCATCCCCATCTTTGCT	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(961-963)cCc>cAc		integrin, beta 4							144.0	108.0	120.0					17																	73726545		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73726545C>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.962C>A	17.37:g.73726545C>A	ENSP00000200181:p.Pro321His					ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H|ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H	p.P321H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1149	+	all_cancers(13;1.5e-07)		321			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.962C>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004601	0.54254	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97688	-4.49;-4.49;-4.49	5.6	5.6	0.85130	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.99433	1.0936	10	0.87932	D	0	.	19.6008	0.95560	0.0:1.0:0.0:0.0	.	321;321;321;321	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	237;321;321;321	ENSP00000200181:P321H;ENSP00000344079:P321H;ENSP00000400217:P321H	ENSP00000200181:P321H	P	+	2	0	ITGB4	71238140	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.673000	0.83973	2.632000	0.89209	0.563000	0.77884	CCC		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			74	433	1	0	6.44082e-31	1	7.56849e-31	74	433				
SLC36A4	120103	broad.mit.edu	37	11	92901261	92901261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92901261C>T	ENST00000326402.4	-	7	747	c.617G>A	c.(616-618)aGt>aAt	p.S206N	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S71N	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	206					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGGTCAACACTTCTTCTCTC	0.343																																						ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(616-618)aGt>aAt		solute carrier family 36 (proton/amino acid symporter), member 4							127.0	126.0	126.0					11																	92901261		2201	4296	6497	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92901261C>T	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.617G>A	11.37:g.92901261C>T	ENSP00000317382:p.Ser206Asn					SLC36A4_ENST00000529184.1_Missense_Mutation_p.S71N	p.S206N	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN			7	747	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	206					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.617G>A	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052602	0.36181	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02301	4.35;4.35;4.35	5.47	2.57	0.30868	.	0.178651	0.51477	N	0.000097	T	0.01940	0.0061	N	0.24115	0.695	0.24548	N	0.994039	B	0.15141	0.012	B	0.25614	0.062	T	0.46693	-0.9173	10	0.28530	T	0.3	-9.6457	8.2408	0.31658	0.0:0.5642:0.2946:0.1412	.	206	Q6YBV0	S36A4_HUMAN	N	206;71;100	ENSP00000317382:S206N;ENSP00000436570:S71N;ENSP00000432061:S100N	ENSP00000317382:S206N	S	-	2	0	SLC36A4	92540909	0.323000	0.24643	0.996000	0.52242	0.996000	0.88848	0.337000	0.19841	0.275000	0.22094	0.650000	0.86243	AGT		0.343	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			55	297	0	0	0	1	0	55	297				
TMTC1	83857	broad.mit.edu	37	12	29673650	29673650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673650G>A	ENST00000539277.1	-	12	1847	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000256062.5_Missense_Mutation_p.R489W|TMTC1_ENST00000552618.1_Missense_Mutation_p.R621W|TMTC1_ENST00000551659.1_Missense_Mutation_p.R659W	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	597						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTTTAAACCGCTCCTTTAAA	0.318																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1465-1467)Cgg>Tgg		transmembrane and tetratricopeptide repeat containing 1							86.0	79.0	81.0					12																	29673650		2203	4299	6502	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29673650G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1789C>T	12.37:g.29673650G>A	ENSP00000442046:p.Arg597Trp					RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000539277.1_Missense_Mutation_p.R597W|TMTC1_ENST00000551659.1_Missense_Mutation_p.R659W|TMTC1_ENST00000552618.1_Missense_Mutation_p.R621W|TMTC1_ENST00000319685.8_5'UTR	p.R489W	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			12	1938	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		597					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1465C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030790	0.54790	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.66099	-0.19;-0.19;0.14;-0.19	5.14	-0.253	0.12996	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.296514	0.32218	N	0.006413	T	0.79930	0.4531	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63192	0.912;0.862	T	0.79999	-0.1566	9	.	.	.	-9.8495	7.4504	0.27235	0.128:0.0:0.3992:0.4729	.	597;659	Q8IUR5;F8VTQ9	TMTC1_HUMAN;.	W	360;489;659;621;597	ENSP00000256062:R489W;ENSP00000448112:R659W;ENSP00000449043:R621W;ENSP00000442046:R597W	.	R	-	1	2	TMTC1	29564917	1.000000	0.71417	0.992000	0.48379	0.646000	0.38490	2.421000	0.44688	0.348000	0.23949	-0.256000	0.11100	CGG		0.318	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		45	193	0	0	0	1	0	45	193				
KIAA0226	9711	broad.mit.edu	37	3	197408002	197408002	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408002G>A	ENST00000296343.5	-	16	2427	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R765W	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	810					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGTCTTACCCGGACTTGATTG	0.562																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2293-2295)Cgg>Tgg		KIAA0226							82.0	79.0	80.0					3																	197408002		1990	4175	6165	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408002G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2428C>T	3.37:g.197408002G>A	ENSP00000296343:p.Arg810Trp					KIAA0226_ENST00000296343.5_Missense_Mutation_p.R810W|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W	p.R765W	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	17	2838	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		810					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.2293C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998210|1.998210	0.35226|0.35226	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	4.55|4.55	2.71|2.71	0.32032|0.32032	.|.	.|0.076684	.|0.53938	.|D	.|0.000042	T|T	0.53610|0.53610	0.1807|0.1807	M|M	0.78916|0.78916	2.43|2.43	0.50171|0.50171	D|D	0.999858|0.999858	.|P;B;P	.|0.38677	.|0.642;0.199;0.557	.|B;B;B	.|0.34652	.|0.187;0.072;0.175	T|T	0.55263|0.55263	-0.8168|-0.8168	5|9	.|0.54805	.|T	.|0.06	.|.	8.942|8.942	0.35736|0.35736	0.072:0.0:0.6657:0.2623|0.072:0.0:0.6657:0.2623	.|.	.|835;765;810	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|W	771|765;810;835	.|.	.|ENSP00000273582:R765W	P|R	-|-	2|1	0|2	KIAA0226|KIAA0226	198892399|198892399	0.912000|0.912000	0.30974|0.30974	0.993000|0.993000	0.49108|0.49108	0.602000|0.602000	0.36980|0.36980	0.994000|0.994000	0.29693|0.29693	0.620000|0.620000	0.30215|0.30215	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.562	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		63	259	0	0	0	1	0	63	259				
RANBP2	5903	broad.mit.edu	37	2	109389383	109389383	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109389383A>C	ENST00000283195.6	+	23	8299	c.8173A>C	c.(8173-8175)Aaa>Caa	p.K2725Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2725	2 X 50 AA approximate repeats.|Interaction with SUMO1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAGAAGGCAAAAGCAGATAC	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(8173-8175)Aaa>Caa		RAN binding protein 2							97.0	90.0	92.0					2																	109389383		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109389383A>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8173A>C	2.37:g.109389383A>C	ENSP00000283195:p.Lys2725Gln						p.K2725Q	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			23	8299	+			2725			2 X 50 AA approximate repeats.|Interaction with SUMO1.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.8173A>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213182	0.79352	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.31769	1.48	5.98	5.98	0.97165	Nup358/RanBP2 E3 ligase domain (1);	.	.	.	.	T	0.29061	0.0722	N	0.24115	0.695	0.25469	N	0.987849	D	0.54772	0.968	P	0.50934	0.654	T	0.11717	-1.0576	9	0.23302	T	0.38	-28.6269	11.4836	0.50339	0.9287:0.0:0.0713:0.0	.	2725	P49792	RBP2_HUMAN	Q	1749;2725	ENSP00000283195:K2725Q	ENSP00000283195:K2725Q	K	+	1	0	RANBP2	108755815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.793000	0.62474	2.289000	0.77006	0.482000	0.46254	AAA		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		19	195	0	0	0	1	0	19	195				
RAD51AP1	10635	broad.mit.edu	37	12	4652985	4652985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4652985G>T	ENST00000544927.1	+	3	134	c.124G>T	c.(124-126)Gag>Tag	p.E42*	RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000228843.9_Nonsense_Mutation_p.E42*					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGCACCAAAGGAGTTAAAACA	0.328																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(124-126)Gag>Tag		RAD51 associated protein 1							71.0	71.0	71.0					12																	4652985		2203	4298	6501	SO:0001587	stop_gained	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4652985G>T	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.124G>T	12.37:g.4652985G>T	ENSP00000446296:p.Glu42*					RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000544927.1_Nonsense_Mutation_p.E42*	p.E42*	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		3	174	+			42						Nonsense_Mutation	SNP	ENST00000544927.1	37	c.124G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.934364|3.934364	0.73442|0.73442	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	.|.	.|.	.|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.575521|.	0.18618|.	N|.	0.135962|.	.|T	.|0.70378	.|0.3217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70040	.|-0.4981	.|4	0.13853|.	T|.	0.58|.	-7.1602|-7.1602	14.5515|14.5515	0.68070|0.68070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	42|36	.|.	ENSP00000228843:E42X|.	E|G	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4523246|4523246	0.998000|0.998000	0.40836|0.40836	0.298000|0.298000	0.25002|0.25002	0.354000|0.354000	0.29330|0.29330	5.119000|5.119000	0.64679|0.64679	2.181000|2.181000	0.69327|0.69327	0.585000|0.585000	0.79938|0.79938	GAG|GGA		0.328	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479		44	196	1	0	1.06522e-23	1	1.21267e-23	44	196				
PFAS	5198	broad.mit.edu	37	17	8168391	8168391	+	Missense_Mutation	SNP	C	C	T	rs117044677		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168391C>T	ENST00000314666.6	+	18	2361	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	743					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCCCGGCTGGCCGTGGCCGAA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17088	0.0		0.001	False		,,,				2504	0.0					ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2227-2229)gCc>gTc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)																																			SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8168391C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2228C>T	17.37:g.8168391C>T	ENSP00000313490:p.Ala743Val					PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	p.A743V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			18	2361	+			743					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2228C>T	CCDS11136.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.54	3.847335	0.71603	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.53640	0.61;1.33	5.8	5.8	0.92144	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.88704	2.975	0.80722	D	1	P	0.47302	0.893	B	0.37692	0.256	T	0.69308	-0.5179	10	0.87932	D	0	-13.024	17.5632	0.87912	0.0:1.0:0.0:0.0	.	743	O15067	PUR4_HUMAN	V	319;743;152	ENSP00000441706:A319V;ENSP00000313490:A743V	ENSP00000313490:A743V	A	+	2	0	PFAS	8109116	1.000000	0.71417	0.945000	0.38365	0.031000	0.12232	7.035000	0.76517	2.758000	0.94735	0.563000	0.77884	GCC		0.632	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			41	193	0	0	0	1	0	41	193				
EWSR1	2130	broad.mit.edu	37	22	29674083	29674083	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29674083T>G	ENST00000397938.2	+	5	610	c.291T>G	c.(289-291)gcT>gcG	p.A97A	EWSR1_ENST00000332050.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A|EWSR1_ENST00000332035.6_Silent_p.A97A|EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000333395.6_Silent_p.A97A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	97	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCACTGGTGCTTATGATACCA	0.552			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(289-291)gcT>gcG		EWS RNA-binding protein 1							46.0	45.0	45.0					22																	29674083		2203	4296	6499	SO:0001819	synonymous_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29674083T>G		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.291T>G	22.37:g.29674083T>G						EWSR1_ENST00000332035.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A|EWSR1_ENST00000333395.6_Silent_p.A97A|EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000332050.6_Silent_p.A97A	p.A97A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			5	610	+			97			31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	c.291T>G	CCDS13851.1																																																																																				0.552	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		48	174	0	0	0	1	0	48	174				
TYR	7299	broad.mit.edu	37	11	88924572	88924572	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924572G>T	ENST00000263321.5	+	2	1524	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	341					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TTCAGCTTTAGAAATACACTG	0.368																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1021-1023)aGa>aTa		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						93.0	95.0	94.0					11																	88924572		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924572G>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1022G>T	11.37:g.88924572G>T	ENSP00000263321:p.Arg341Ile					TYR_ENST00000526139.1_3'UTR	p.R341I	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			2	1524	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	341					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1022G>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383941	0.82792	.	.	ENSG00000077498	ENST00000263321	D	0.97378	-4.36	5.59	4.68	0.58851	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.045357	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99556	1.0967	9	.	.	.	.	14.4613	0.67450	0.0705:0.0:0.9294:0.0	.	341	P14679	TYRO_HUMAN	I	341	ENSP00000263321:R341I	.	R	+	2	0	TYR	88564220	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.273000	0.95719	1.370000	0.46153	0.655000	0.94253	AGA		0.368	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		139	570	1	0	2.78246e-50	1	3.44754e-50	139	570				
ZSCAN29	146050	broad.mit.edu	37	15	43653581	43653581	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43653581A>C	ENST00000396976.2	-	5	2383	c.2249T>G	c.(2248-2250)aTc>aGc	p.I750S	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	750					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGGTGAATGATAAGGCTTGA	0.423																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(2248-2250)aTc>aGc		zinc finger and SCAN domain containing 29							126.0	120.0	122.0					15																	43653581		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43653581A>C	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.2249T>G	15.37:g.43653581A>C	ENSP00000380174:p.Ile750Ser					ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S	p.I750S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	2383	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	750					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.2249T>G	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750813	0.49257	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.37584	1.19;1.19	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.081571	0.52532	D	0.000068	T	0.22781	0.0550	N	0.04655	-0.195	0.37129	D	0.901151	P;B	0.46220	0.874;0.145	P;P	0.47786	0.542;0.557	T	0.18967	-1.0320	10	0.48119	T	0.1	-11.3561	8.3719	0.32421	0.8254:0.0:0.0:0.1746	.	361;750	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	S	750;361	ENSP00000380174:I750S;ENSP00000380170:I361S	ENSP00000380170:I361S	I	-	2	0	ZSCAN29	41440873	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	2.242000	0.43106	2.168000	0.68352	0.533000	0.62120	ATC		0.423	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		118	485	0	0	0	1	0	118	485				
SMIM8	57150	broad.mit.edu	37	6	88046852	88046852	+	Missense_Mutation	SNP	C	C	T	rs138742161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88046852C>T	ENST00000392863.1	+	3	192	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	SMIM8_ENST00000608525.1_Missense_Mutation_p.R35C|SMIM8_ENST00000608868.1_Missense_Mutation_p.R35C|SMIM8_ENST00000608353.1_Missense_Mutation_p.R35C|RP1-102H19.8_ENST00000448282.2_Missense_Mutation_p.R35C|SMIM8_ENST00000229570.5_Missense_Mutation_p.R35C	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	35						integral component of membrane (GO:0016021)											AACCTTATTTCGTGCTGTGAA	0.433																																						ENST00000392863.1																			0											c.(103-105)Cgt>Tgt		small integral membrane protein 8		C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	110.0	110.0	110.0		103,103	5.2	1.0	6	dbSNP_134	110	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	C6orf162	NM_001042493.1,NM_020425.4	180,180	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	probably-damaging,probably-damaging	35/98,35/98	88046852	5,13001	2203	4300	6503	SO:0001583	missense	57150							g.chr6:88046852C>T	AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 162"""	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.103C>T	6.37:g.88046852C>T	ENSP00000376603:p.Arg35Cys					SMIM8_ENST00000229570.5_Missense_Mutation_p.R35C	p.R35C	NM_001042493.1	NP_001035958.1					3	192	+								B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	ENST00000392863.1	37	c.103C>T	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227300	0.79576	4.54E-4	3.49E-4	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	6.03	5.16	0.70880	.	0.065894	0.64402	D	0.000007	T	0.70482	0.3229	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76141	-0.3068	8	0.87932	D	0	-11.0	8.666	0.34121	0.2609:0.6702:0.0:0.0689	.	35	Q96KF7	CF162_HUMAN	C	35	.	ENSP00000229570:R35C	R	+	1	0	C6orf162	88103571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.170000	0.42443	1.564000	0.49628	0.655000	0.94253	CGT		0.433	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2	NM_020425		85	367	0	0	0	1	0	85	367				
DCTN1	1639	broad.mit.edu	37	2	74595911	74595911	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74595911C>A	ENST00000361874.3	-	16	2115	c.1798G>T	c.(1798-1800)Ggt>Tgt	p.G600C	DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	600					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGGTCCCCACCTGGCCGAAGG	0.522																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(1798-1800)Ggt>Tgt		dynactin 1							157.0	124.0	135.0					2																	74595911		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74595911C>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1798G>T	2.37:g.74595911C>A	ENSP00000354791:p.Gly600Cys					DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C|DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C	p.G600C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			16	2115	-			600					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.1798G>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038934	0.75617	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;D;T;T	0.82255	-1.16;-1.32;-1.12;-1.13;-1.59;-1.35;-1.37	5.65	4.78	0.61160	.	0.000000	0.44285	D	0.000480	D	0.90188	0.6933	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;0.997	D;D;D;D;D;P	0.97110	0.999;1.0;0.922;0.999;0.982;0.873	D	0.91352	0.5105	10	0.87932	D	0	-7.756	13.7048	0.62631	0.0:0.9255:0.0:0.0745	.	580;563;600;593;466;466	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	C	600;593;583;466;466;563;583;580	ENSP00000354791:G600C;ENSP00000377571:G593C;ENSP00000384844:G466C;ENSP00000387270:G466C;ENSP00000386406:G563C;ENSP00000387327:G583C;ENSP00000386843:G580C	ENSP00000354791:G600C	G	-	1	0	DCTN1	74449419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.309000	0.65774	1.636000	0.50526	0.655000	0.94253	GGT		0.522	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		52	382	1	0	3.4597e-24	1	3.94879e-24	52	382				
DLGAP1	9229	broad.mit.edu	37	18	3814267	3814267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3814267G>A	ENST00000315677.3	-	5	1559	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	322					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CATTCATCTTGTGGAACCTAT	0.353																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(964-966)Caa>Taa		discs, large (Drosophila) homolog-associated protein 1							93.0	90.0	91.0					18																	3814267		2203	4300	6503	SO:0001587	stop_gained	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3814267G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.964C>T	18.37:g.3814267G>A	ENSP00000316377:p.Gln322*					DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*	p.Q322*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			5	1559	-		Colorectal(8;0.0257)	322					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Nonsense_Mutation	SNP	ENST00000315677.3	37	c.964C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.900017	0.97081	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.5534	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	322;20;28;30;28;34;20;20;322	.	ENSP00000316377:Q322X	Q	-	1	0	DLGAP1	3804267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.749000	0.85096	2.832000	0.97577	0.655000	0.94253	CAA		0.353	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			90	439	0	0	0	1	0	90	439				
CUX1	1523	broad.mit.edu	37	7	101877433	101877433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877433C>T	ENST00000292535.7	+	22	3573	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.R1190*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1179					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCTGAAAGGACGAGAGCCCTT	0.557																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3568-3570)Cga>Tga		cut-like homeobox 1							96.0	85.0	89.0					7																	101877433		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101877433C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3535C>T	7.37:g.101877433C>T	ENSP00000292535:p.Arg1179*					CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R1179*	p.R1190*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			22	3588	+			1179					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.3568C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	40	8.128236	0.98667	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.32	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7042	15.861	0.79021	0.2249:0.7751:0.0:0.0	.	.	.	.	X	1190;1179;1157;1123;1077;1021	.	ENSP00000292535:R1179X	R	+	1	2	CUX1	101664153	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	1.359000	0.34113	2.486000	0.83907	0.655000	0.94253	CGA		0.557	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		82	270	0	0	0	1	0	82	270				
PRSS54	221191	broad.mit.edu	37	16	58318538	58318538	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58318538C>T	ENST00000219301.4	-	6	1004	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K|PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCGCATTCTGTCTTCTGG	0.463																																						ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(610-612)Gaa>Aaa		protease, serine, 54							174.0	143.0	154.0					16																	58318538		2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58318538C>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.610G>A	16.37:g.58318538C>T	ENSP00000219301:p.Glu204Lys					PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K|PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K	p.E204K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			6	1004	-			204			Peptidase S1.		Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.610G>A	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	C	8.641	0.896084	0.17686	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;D	0.88509	-2.39;-2.39	5.83	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.747469	0.12424	N	0.470150	T	0.81069	0.4746	L	0.29908	0.895	0.19775	N	0.99996	P	0.36438	0.553	B	0.37387	0.248	T	0.67381	-0.5685	10	0.05959	T	0.93	-2.453	10.6438	0.45608	0.0:0.9126:0.0:0.0874	.	204	Q6PEW0	PRS54_HUMAN	K	204;105	ENSP00000219301:E204K;ENSP00000437705:E105K	ENSP00000219301:E204K	E	-	1	0	PRSS54	56876039	0.870000	0.30015	0.731000	0.30826	0.022000	0.10575	2.661000	0.46758	1.467000	0.48044	0.563000	0.77884	GAA		0.463	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		94	385	0	0	0	1	0	94	385				
DDHD1	80821	broad.mit.edu	37	14	53540518	53540518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53540518T>C	ENST00000323669.5	-	5	1336	c.1337A>G	c.(1336-1338)cAt>cGt	p.H446R	DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R|DDHD1_ENST00000357758.3_Missense_Mutation_p.H446R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	446					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATGTGTTGCATGGTTGGAAAA	0.328																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1336-1338)cAt>cGt		DDHD domain containing 1							95.0	96.0	96.0					14																	53540518		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53540518T>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1337A>G	14.37:g.53540518T>C	ENSP00000327104:p.His446Arg					DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R|DDHD1_ENST00000323669.5_Missense_Mutation_p.H446R	p.H446R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			5	1520	-	Breast(41;0.037)		446					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1337A>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825067	0.32237	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.30714	1.52;1.52;1.52	5.81	5.81	0.92471	.	0.779055	0.13146	N	0.410275	T	0.14960	0.0361	N	0.05306	-0.075	0.29132	N	0.879586	B;B;B	0.20887	0.049;0.047;0.005	B;B;B	0.15052	0.012;0.007;0.006	T	0.17319	-1.0373	10	0.13853	T	0.58	-17.3861	10.0733	0.42345	0.2459:0.0:0.0:0.7541	.	453;446;446	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	R	446;453;446;317	ENSP00000327104:H446R;ENSP00000378970:H453R;ENSP00000350401:H446R	ENSP00000327104:H446R	H	-	2	0	DDHD1	52610268	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.878000	0.48515	2.210000	0.71456	0.533000	0.62120	CAT		0.328	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			76	317	0	0	0	1	0	76	317				
BTG3	10950	broad.mit.edu	37	21	18981409	18981409	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:18981409T>C	ENST00000348354.6	-	2	310	c.54A>G	c.(52-54)aaA>aaG	p.K18K	BTG3_ENST00000339775.6_Silent_p.K18K|BTG3_ENST00000464058.1_5'UTR	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	18					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ACTTATCATGTTTTCGAACTA	0.323																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(52-54)aaA>aaG		BTG family, member 3							92.0	91.0	91.0					21																	18981409		2203	4299	6502	SO:0001819	synonymous_variant	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18981409T>C	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.54A>G	21.37:g.18981409T>C						BTG3_ENST00000464058.1_5'UTR|BTG3_ENST00000348354.6_Silent_p.K18K	p.K18K	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	2	207	-			18					D3DSC4|Q53XV1|Q96ET7	Silent	SNP	ENST00000348354.6	37	c.54A>G	CCDS13569.1																																																																																				0.323	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		73	341	0	0	0	1	0	73	341				
SLC38A8	146167	broad.mit.edu	37	16	84056464	84056464	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056464T>C	ENST00000299709.3	-	6	720	c.721A>G	c.(721-723)Agc>Ggc	p.S241G		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	241					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTGCGCATGCTGCAGTAGATG	0.582																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(721-723)Agc>Ggc		solute carrier family 38, member 8							75.0	58.0	63.0					16																	84056464		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056464T>C		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.721A>G	16.37:g.84056464T>C	ENSP00000299709:p.Ser241Gly						p.S241G	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	720	-			241						Missense_Mutation	SNP	ENST00000299709.3	37	c.721A>G	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523176	0.44866	.	.	ENSG00000166558	ENST00000299709	T	0.02606	4.23	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	M	0.83603	2.65	0.58432	D	0.999992	D	0.76494	0.999	D	0.70487	0.969	T	0.00373	-1.1781	10	0.51188	T	0.08	.	14.3515	0.66705	0.0:0.0:0.0:1.0	.	241	A6NNN8	S38A8_HUMAN	G	241	ENSP00000299709:S241G	ENSP00000299709:S241G	S	-	1	0	SLC38A8	82613965	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.278000	0.78587	2.029000	0.59856	0.448000	0.29417	AGC		0.582	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		6	160	0	0	0	1	0	6	160				
MORC1	27136	broad.mit.edu	37	3	108703566	108703566	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108703566T>C	ENST00000483760.1	-	22	2301	c.2258A>G	c.(2257-2259)aAa>aGa	p.K753R	MORC1_ENST00000232603.5_Missense_Mutation_p.K774R					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTCACCTTTTCCAGCTAGG	0.338																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2320-2322)aAa>aGa		MORC family CW-type zinc finger 1							99.0	88.0	92.0					3																	108703566		2203	4298	6501	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108703566T>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2258A>G	3.37:g.108703566T>C	ENSP00000417282:p.Lys753Arg					MORC1_ENST00000483760.1_Missense_Mutation_p.K753R	p.K774R	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			23	2403	-			774						Missense_Mutation	SNP	ENST00000483760.1	37	c.2321A>G		.	.	.	.	.	.	.	.	.	.	T	13.23	2.174800	0.38413	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.07688	3.21;3.17	5.49	4.35	0.52113	.	2.220440	0.01806	N	0.033169	T	0.08582	0.0213	N	0.24115	0.695	0.21967	N	0.999446	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.26677	-1.0096	10	0.46703	T	0.11	.	7.8604	0.29506	0.0:0.0906:0.0:0.9094	.	753;774	E7ERX1;Q86VD1	.;MORC1_HUMAN	R	774;753	ENSP00000232603:K774R;ENSP00000417282:K753R	ENSP00000232603:K774R	K	-	2	0	MORC1	110186256	0.922000	0.31269	0.817000	0.32601	0.753000	0.42808	1.323000	0.33701	1.116000	0.41820	0.533000	0.62120	AAA		0.338	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			43	143	0	0	0	1	0	43	143				
KDM2B	84678	broad.mit.edu	37	12	121891035	121891035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121891035C>T	ENST00000377071.4	-	13	1919	c.1847G>A	c.(1846-1848)tGc>tAc	p.C616Y	KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Missense_Mutation_p.C585Y	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	616					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGGCCTCGCACTTGCGGCA	0.697																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1753-1755)tGc>tAc		lysine (K)-specific demethylase 2B							20.0	23.0	22.0					12																	121891035		1990	4162	6152	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121891035C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1847G>A	12.37:g.121891035C>T	ENSP00000366271:p.Cys616Tyr					KDM2B_ENST00000377071.4_Missense_Mutation_p.C616Y|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y	p.C585Y	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			13	2160	-			616					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1754G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945866	0.92593	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.73575	0.32;-0.3;-0.76	5.18	5.18	0.71444	Zinc finger, CXXC-type (2);	0.000000	0.56097	D	0.000021	D	0.90410	0.6998	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.977;0.998	D	0.92755	0.6219	10	0.87932	D	0	-19.2876	18.8727	0.92322	0.0:1.0:0.0:0.0	.	56;499;616;585;56	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	Y	616;585;616;499;616;56;616	ENSP00000366269:C585Y;ENSP00000366271:C616Y;ENSP00000445196:C499Y	ENSP00000261824:C616Y	C	-	2	0	KDM2B	120375418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.694000	0.91930	0.555000	0.69702	TGC		0.697	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		28	112	0	0	0	1	0	28	112				
CLIP3	25999	broad.mit.edu	37	19	36508882	36508882	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36508882T>C	ENST00000360535.4	-	10	1422	c.1195A>G	c.(1195-1197)Acc>Gcc	p.T399A	CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	399					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GATGATGGGGTCTTCTTCTTG	0.597																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1195-1197)Acc>Gcc		CAP-GLY domain containing linker protein 3							68.0	68.0	68.0					19																	36508882		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508882T>C	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1195A>G	19.37:g.36508882T>C	ENSP00000353732:p.Thr399Ala					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A	p.T399A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1422	-	Esophageal squamous(110;0.162)		399					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1195A>G	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	T	6.363	0.435008	0.12045	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.71461	-0.57	4.77	0.103	0.14526	Cytoskeleton-associated protein, Gly-rich domain (1);	0.627025	0.15831	N	0.242503	T	0.40145	0.1105	N	0.08118	0	0.21802	N	0.999539	B	0.10296	0.003	B	0.06405	0.002	T	0.17531	-1.0366	10	0.11794	T	0.64	-4.0832	3.6991	0.08375	0.3297:0.0:0.4571:0.2133	.	399	Q96DZ5	CLIP3_HUMAN	A	399;281;375	ENSP00000353732:T399A	ENSP00000353732:T399A	T	-	1	0	CLIP3	41200722	0.990000	0.36364	0.132000	0.22025	0.937000	0.57800	0.774000	0.26675	-0.164000	0.10927	-0.527000	0.04329	ACC		0.597	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		8	226	0	0	0	1	0	8	226				
XYLT2	64132	broad.mit.edu	37	17	48434506	48434506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48434506C>T	ENST00000017003.2	+	9	1883	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	612					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGCGGTGCAGCCCTCAGCCCA	0.642																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1834-1836)Ccc>Tcc		xylosyltransferase II							43.0	44.0	44.0					17																	48434506		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48434506C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1834C>T	17.37:g.48434506C>T	ENSP00000017003:p.Pro612Ser					XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	p.P612S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			9	1883	+	Breast(11;7.18e-19)		612					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.1834C>T	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259545	0.05791	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.07216	3.75;3.21	4.92	2.94	0.34122	.	0.530450	0.21212	N	0.078289	T	0.02727	0.0082	N	0.03608	-0.345	0.29134	N	0.879486	B	0.02656	0.0	B	0.04013	0.001	T	0.42050	-0.9474	10	0.08381	T	0.77	-11.76	4.6835	0.12747	0.2167:0.6042:0.0:0.1791	.	612	Q9H1B5	XYLT2_HUMAN	S	612	ENSP00000017003:P612S;ENSP00000426501:P612S	ENSP00000017003:P612S	P	+	1	0	XYLT2	45789505	0.986000	0.35501	1.000000	0.80357	0.930000	0.56654	1.831000	0.39141	0.681000	0.31386	0.655000	0.94253	CCC		0.642	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		39	183	0	0	0	1	0	39	183				
CATSPER1	117144	broad.mit.edu	37	11	65793568	65793568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793568C>T	ENST00000312106.5	-	1	420	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	95	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGACCAAAGCCTGTGGGGCCA	0.602																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(283-285)Ggc>Agc		cation channel, sperm associated 1							145.0	129.0	134.0					11																	65793568		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793568C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.283G>A	11.37:g.65793568C>T	ENSP00000309052:p.Gly95Ser						p.G95S	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	420	-			95			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.283G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	7.161	0.585676	0.13749	.	.	ENSG00000175294	ENST00000312106	D	0.96265	-3.96	3.33	-5.16	0.02857	.	2.916730	0.01422	N	0.014386	D	0.91888	0.7432	L	0.43923	1.385	0.09310	N	1	B	0.22080	0.064	B	0.17722	0.019	T	0.79546	-0.1759	10	0.72032	D	0.01	6.2679	0.6048	0.00750	0.3187:0.2782:0.1112:0.2919	.	95	Q8NEC5	CTSR1_HUMAN	S	95	ENSP00000309052:G95S	ENSP00000309052:G95S	G	-	1	0	CATSPER1	65550144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.734000	0.04843	-0.314000	0.08810	GGC		0.602	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		125	589	0	0	0	1	0	125	589				
TEK	7010	broad.mit.edu	37	9	27190608	27190608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27190608A>G	ENST00000380036.4	+	10	1851	c.1409A>G	c.(1408-1410)tAc>tGc	p.Y470C	TEK_ENST00000519097.1_Missense_Mutation_p.Y323C|TEK_ENST00000406359.4_Missense_Mutation_p.Y427C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	470	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGAGCCTTACTTTGGGGAT	0.423																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1408-1410)tAc>tGc		TEK tyrosine kinase, endothelial							165.0	157.0	160.0					9																	27190608		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27190608A>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1409A>G	9.37:g.27190608A>G	ENSP00000369375:p.Tyr470Cys					TEK_ENST00000406359.4_Missense_Mutation_p.Y427C|TEK_ENST00000519097.1_Missense_Mutation_p.Y323C	p.Y470C	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	10	1851	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	470			Fibronectin type-III 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1409A>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160147	0.57368	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.73	3.33	0.38152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.349499	0.20629	N	0.088626	T	0.62109	0.2401	L	0.52573	1.65	0.41980	D	0.990798	P;D;P;D	0.64830	0.938;0.994;0.808;0.975	P;D;P;P	0.64237	0.65;0.923;0.526;0.733	T	0.61048	-0.7141	10	0.66056	D	0.02	.	10.1788	0.42955	0.735:0.0:0.0:0.265	.	323;503;427;470	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	C	323;470;427;427;280	ENSP00000430686:Y323C;ENSP00000369375:Y470C;ENSP00000383977:Y427C;ENSP00000428337:Y280C	ENSP00000343716:Y427C	Y	+	2	0	TEK	27180608	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.992000	0.56980	0.415000	0.25817	-0.403000	0.06358	TAC		0.423	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			14	618	0	0	0	1	0	14	618				
CLTCL1	8218	broad.mit.edu	37	22	19226854	19226854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19226854C>T	ENST00000263200.10	-	5	811	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	247	Globular terminal domain.|WD40-like repeat 5.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATCTACTGCTTTCTTTACA	0.443			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(739-741)Gca>Aca		clathrin, heavy chain-like 1							208.0	205.0	206.0					22																	19226854		1900	4121	6021	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226854C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.739G>A	22.37:g.19226854C>T	ENSP00000445677:p.Ala247Thr					CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T	p.A247T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			5	811	-	Colorectal(54;0.0993)		247			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.739G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239292	0.39598	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23147	1.92;1.92;1.92	3.91	1.72	0.24424	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.235741	0.34411	N	0.003991	T	0.21590	0.0520	L	0.49571	1.57	0.58432	D	0.999993	B;B	0.12013	0.002;0.005	B;B	0.22880	0.035;0.042	T	0.04885	-1.0920	10	0.34782	T	0.22	-3.3688	8.444	0.32830	0.0:0.7569:0.1558:0.0873	.	247;247	P53675-2;P53675	.;CLH2_HUMAN	T	247	ENSP00000439662:A247T;ENSP00000445677:A247T;ENSP00000441158:A247T	ENSP00000445677:A247T	A	-	1	0	CLTCL1	17606854	1.000000	0.71417	0.914000	0.36105	0.626000	0.37791	4.046000	0.57376	0.286000	0.22352	0.591000	0.81541	GCA		0.443	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		165	765	0	0	0	1	0	165	765				
ABCB5	340273	broad.mit.edu	37	7	20795190	20795190	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20795190G>A	ENST00000404938.2	+	28	4369	c.3717G>A	c.(3715-3717)gaG>gaA	p.E1239E	ABCB5_ENST00000258738.6_Silent_p.E794E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1239	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTCATCAAGAGCTCCTGAGAA	0.413																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3715-3717)gaG>gaA		ATP-binding cassette, sub-family B (MDR/TAP), member 5							103.0	97.0	99.0					7																	20795190		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20795190G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3717G>A	7.37:g.20795190G>A						ABCB5_ENST00000258738.6_Silent_p.E794E	p.E1239E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			28	4369	+			794					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.3717G>A	CCDS55090.1																																																																																				0.413	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		51	213	0	0	0	1	0	51	213				
LRIT1	26103	broad.mit.edu	37	10	85997326	85997326	+	Missense_Mutation	SNP	C	C	A	rs371581070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85997326C>A	ENST00000372105.3	-	2	260	c.239G>T	c.(238-240)aGg>aTg	p.R80M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	80						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGGGGCCTGAAGGCCTC	0.721																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(238-240)aGg>aTg		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1		C	MET/ARG	0,4298		0,0,2149	17.0	21.0	20.0		239	-0.9	0.0	10		20	1,8437		0,1,4218	no	missense	LRIT1	NM_015613.2	91	0,1,6367	AA,AC,CC		0.0119,0.0,0.0079	benign	80/624	85997326	1,12735	2149	4219	6368	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85997326C>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.239G>T	10.37:g.85997326C>A	ENSP00000361177:p.Arg80Met						p.R80M	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			2	260	-			80					Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.239G>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086511	0.36855	0.0	1.19E-4	ENSG00000148602	ENST00000372105	T	0.52983	0.64	5.42	-0.953	0.10362	.	1.510790	0.03923	N	0.283947	T	0.42471	0.1204	M	0.73319	2.225	0.09310	N	1	P	0.37101	0.582	B	0.37198	0.243	T	0.23726	-1.0180	10	0.33141	T	0.24	.	0.1121	0.00057	0.3439:0.22:0.1707:0.2655	.	80	Q9P2V4	LRIT1_HUMAN	M	80	ENSP00000361177:R80M	ENSP00000361177:R80M	R	-	2	0	LRIT1	85987306	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	0.770000	0.26618	-0.040000	0.13580	0.650000	0.86243	AGG		0.721	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		40	199	1	0	1.59361e-14	1	1.73214e-14	40	199				
ZNF471	57573	broad.mit.edu	37	19	57036219	57036219	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036219C>A	ENST00000308031.5	+	5	916	c.783C>A	c.(781-783)ctC>ctA	p.L261L	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.S121Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAGAAACTCTTTGAATGTA	0.368																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000591537.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(361-363)tCt>tAt		zinc finger protein 471							98.0	109.0	106.0					19																	57036219		2203	4300	6503	SO:0001819	synonymous_variant	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036219C>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.783C>A	19.37:g.57036219C>A						ZNF471_ENST00000308031.5_Silent_p.L261L|ZNF471_ENST00000593197.1_Intron	p.S121Y			Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	488	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	129					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.362C>A	CCDS12945.1																																																																																				0.368	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		46	586	1	0	6.68952e-21	1	7.51162e-21	46	586				
CNTN5	53942	broad.mit.edu	37	11	99690411	99690411	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690411T>G	ENST00000524871.1	+	4	482	c.192T>G	c.(190-192)gcT>gcG	p.A64A	CNTN5_ENST00000528682.1_Silent_p.A64A|CNTN5_ENST00000527185.1_Silent_p.A64A|CNTN5_ENST00000279463.3_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	64					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CACTGAGTGCTTCTTCACCCA	0.428																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(190-192)gcT>gcG		contactin 5							93.0	94.0	93.0					11																	99690411		1924	4125	6049	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690411T>G	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.192T>G	11.37:g.99690411T>G						CNTN5_ENST00000528682.1_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Silent_p.A64A|CNTN5_ENST00000279463.3_Silent_p.A64A	p.A64A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	482	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	64					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.192T>G	CCDS53696.1																																																																																				0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		25	250	0	0	0	1	0	25	250				
PGPEP1L	145814	broad.mit.edu	37	15	99511757	99511757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99511757C>T	ENST00000378919.6	-	5	746	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.A127T|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	181							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGAACTGGGCTCTGTGCTTG	0.537																																						ENST00000535714.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(379-381)Gcc>Acc		pyroglutamyl-peptidase I-like							56.0	56.0	56.0					15																	99511757		1930	4123	6053	SO:0001583	missense	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99511757C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.541G>A	15.37:g.99511757C>T	ENSP00000368199:p.Ala181Thr					PGPEP1L_ENST00000378919.6_Missense_Mutation_p.A181T|RP11-654A16.3_ENST00000559468.1_RNA	p.A127T	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN			5	1184	-			181					H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	c.379G>A	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	9.776	1.174029	0.21704	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.31769	1.48	5.39	3.52	0.40303	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.31943	-0.9925	9	0.12430	T	0.62	.	7.48	0.27400	0.0:0.7385:0.0:0.2615	.	181	A6NFU8	PGPIL_HUMAN	T	181;174	ENSP00000368199:A181T	ENSP00000368199:A181T	A	-	1	0	PGPEP1L	97329280	0.004000	0.15560	0.004000	0.12327	0.005000	0.04900	0.273000	0.18662	0.669000	0.31146	0.655000	0.94253	GCC		0.537	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		14	93	0	0	0	1	0	14	93				
IGHV3-64	28414	broad.mit.edu	37	14	107114001	107114001	+	RNA	SNP	C	C	T	rs565561738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107114001C>T	ENST00000454421.2	-	0	170									immunoglobulin heavy variable 3-64																		CCAGGCTGGACCAAGCCTTCC	0.572																																						ENST00000454421.2																			0																				89.0	102.0	98.0					14																	107114001		1845	4099	5944			0							g.chr14:107114001C>T	M99682		14q32.33	2012-02-08			ENSG00000223648	ENSG00000223648		"""Immunoglobulins / IGH locus"""	5617	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151971		14.37:g.107114001C>T														0	170	-									RNA	SNP	ENST00000454421.2	37																																																																																						0.572	IGHV3-64-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324617.1	NG_001019		52	943	0	0	0	1	0	52	943				
MYOC	4653	broad.mit.edu	37	1	171621507	171621507	+	Missense_Mutation	SNP	C	C	T	rs201552559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171621507C>T	ENST00000037502.6	-	1	316	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	82			R -> C (in GLC1A).|R -> H.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTCTAAGCGTTGGGTGCT	0.582																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(244-246)cGc>cAc		myocilin, trabecular meshwork inducible glucocorticoid response							118.0	94.0	102.0					1																	171621507		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621507C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.245G>A	1.37:g.171621507C>T	ENSP00000037502:p.Arg82His						p.R82H	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			1	304	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		82		R -> C (in GLC1A).|R -> H.			B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.245G>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	5.460	0.270037	0.10349	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	T	0.57907	0.37	5.21	3.29	0.37713	.	0.342434	0.30809	N	0.008833	T	0.19327	0.0464	L	0.37561	1.115	0.09310	N	0.999991	B	0.13594	0.008	B	0.04013	0.001	T	0.09862	-1.0655	10	0.37606	T	0.19	.	6.7439	0.23451	0.0:0.7854:0.0:0.2146	.	82	Q99972	MYOC_HUMAN	H	82;82;15;82	ENSP00000037502:R82H	ENSP00000037502:R82H	R	-	2	0	MYOC	169888130	0.011000	0.17503	0.625000	0.29200	0.159000	0.22180	-0.090000	0.11163	1.285000	0.44548	0.655000	0.94253	CGC		0.582	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		35	440	0	0	0	1	0	35	440				
MYH9	4627	broad.mit.edu	37	22	36691608	36691608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36691608G>A	ENST00000216181.5	-	26	3658	c.3428C>T	c.(3427-3429)gCt>gTt	p.A1143V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1143					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGTTTTCAGAGCCTCTAGCTC	0.572			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(3427-3429)gCt>gTt		myosin, heavy chain 9, non-muscle							89.0	77.0	81.0					22																	36691608		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36691608G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3428C>T	22.37:g.36691608G>A	ENSP00000216181:p.Ala1143Val						p.A1143V	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			26	3658	-			1143					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3428C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674146	0.88445	.	.	ENSG00000100345	ENST00000216181	T	0.79247	-1.25	4.56	4.56	0.56223	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.89785	3.06	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	D	0.92210	0.5775	10	0.72032	D	0.01	.	17.6926	0.88272	0.0:0.0:1.0:0.0	.	1143	P35579	MYH9_HUMAN	V	1143	ENSP00000216181:A1143V	ENSP00000216181:A1143V	A	-	2	0	MYH9	35021554	1.000000	0.71417	0.952000	0.39060	0.530000	0.34684	9.813000	0.99286	2.261000	0.74972	0.561000	0.74099	GCT		0.572	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		9	244	0	0	0	1	0	9	244				
BNC2	54796	broad.mit.edu	37	9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436735C>T	ENST00000380672.4	-	6	1514	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_ENST00000545497.1_Missense_Mutation_p.R391H|BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000380666.2_Missense_Mutation_p.R486H	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1456-1458)cGt>cAt		basonuclin 2							143.0	133.0	137.0					9																	16436735		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436735C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1457G>A	9.37:g.16436735C>T	ENSP00000370047:p.Arg486His					BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000380666.2_Missense_Mutation_p.R486H|BNC2_ENST00000545497.1_Missense_Mutation_p.R391H	p.R486H	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1514	-			486						Missense_Mutation	SNP	ENST00000380672.4	37	c.1457G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973250	0.74246	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.996;1.0;0.996;0.98;0.998;0.994;0.998	T	0.60188	-0.7312	10	0.72032	D	0.01	-12.1064	20.2422	0.98381	0.0:1.0:0.0:0.0	.	391;419;486;312;486;443;486;391;251	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	H	486;443;419;391;312;486;486	ENSP00000370047:R486H;ENSP00000408370:R443H;ENSP00000370042:R419H;ENSP00000444640:R391H;ENSP00000370041:R486H	ENSP00000370041:R486H	R	-	2	0	BNC2	16426735	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGT		0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		17	524	0	0	0	1	0	17	524				
ALG12	79087	broad.mit.edu	37	22	50307102	50307102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50307102C>A	ENST00000330817.6	-	3	499	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	76					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGAGAACACTGCGATCACC	0.572																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(226-228)Gtg>Ttg		ALG12, alpha-1,6-mannosyltransferase							89.0	81.0	84.0					22																	50307102		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307102C>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.226G>T	22.37:g.50307102C>A	ENSP00000333813:p.Val76Leu						p.V76L	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	3	499	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	76					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.226G>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944639	0.02304	.	.	ENSG00000182858	ENST00000330817	D	0.81996	-1.56	5.34	4.32	0.51571	.	0.435749	0.25341	N	0.031376	T	0.65080	0.2657	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46428	-0.9192	10	0.10377	T	0.69	-10.6288	9.9025	0.41355	0.138:0.7893:0.0:0.0727	.	76	Q9BV10	ALG12_HUMAN	L	76	ENSP00000333813:V76L	ENSP00000333813:V76L	V	-	1	0	ALG12	48693106	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	1.792000	0.38754	1.259000	0.44117	-0.216000	0.12614	GTG		0.572	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		36	354	1	0	5.8336e-16	1	6.39204e-16	36	354				
HSPA6	3310	broad.mit.edu	37	1	161495182	161495182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495182A>C	ENST00000309758.4	+	1	1147	c.734A>C	c.(733-735)gAa>gCa	p.E245A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	245					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACTTCATGGAAGAATTCCGG	0.612																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(733-735)gAa>gCa		heat shock 70kDa protein 6 (HSP70B')							11.0	12.0	12.0					1																	161495182		2196	4261	6457	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495182A>C		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.734A>C	1.37:g.161495182A>C	ENSP00000310219:p.Glu245Ala						p.E245A	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1147	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		245					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.734A>C	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	2.387	-0.340732	0.05243	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10573	2.86	3.33	2.14	0.27477	.	0.328529	0.21359	U	0.075823	T	0.01940	0.0061	N	0.13299	0.325	0.39726	D	0.971536	B	0.20550	0.046	B	0.28784	0.094	T	0.41645	-0.9497	10	0.18276	T	0.48	.	7.5452	0.27761	0.781:0.2189:0.0:0.0	.	245	P17066	HSP76_HUMAN	A	245;221	ENSP00000310219:E245A	ENSP00000310219:E245A	E	+	2	0	HSPA6	159761806	0.450000	0.25697	0.014000	0.15608	0.037000	0.13140	1.070000	0.30653	0.326000	0.23384	0.478000	0.44815	GAA		0.612	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		21	120	0	0	0	1	0	21	120				
NLRP3	114548	broad.mit.edu	37	1	247588472	247588472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588472T>C	ENST00000336119.3	+	3	2473	c.1727T>C	c.(1726-1728)gTt>gCt	p.V576A	NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000366497.2_Missense_Mutation_p.V576A|NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	576					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGATTTTTGTTGTACGTTTC	0.473																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1726-1728)gTt>gCt		NLR family, pyrin domain containing 3							61.0	58.0	59.0					1																	247588472		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588472T>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1727T>C	1.37:g.247588472T>C	ENSP00000337383:p.Val576Ala					NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.V576A|NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A	p.V576A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2507	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	576					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1727T>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443189	0.25987	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	3.96	3.96	0.45880	.	0.000000	0.48286	D	0.000199	T	0.77136	0.4086	L	0.52364	1.645	0.32027	N	0.599963	B;P;B;B;B	0.37141	0.125;0.584;0.178;0.094;0.057	B;B;B;B;B	0.39094	0.082;0.29;0.108;0.108;0.119	T	0.77694	-0.2492	10	0.26408	T	0.33	.	9.5208	0.39133	0.0:0.0:0.0:1.0	.	576;576;576;576;576	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	A	576	ENSP00000375704:V576A;ENSP00000355453:V576A;ENSP00000337383:V576A;ENSP00000294752:V576A;ENSP00000355452:V576A;ENSP00000375703:V576A	ENSP00000337383:V576A	V	+	2	0	NLRP3	245655095	0.856000	0.29760	0.997000	0.53966	0.875000	0.50365	2.006000	0.40874	2.024000	0.59613	0.533000	0.62120	GTT		0.473	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		77	216	0	0	0	1	0	77	216				
VPS13B	157680	broad.mit.edu	37	8	100523350	100523350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100523350G>A	ENST00000358544.2	+	29	4429	c.4318G>A	c.(4318-4320)Gat>Aat	p.D1440N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1440					protein transport (GO:0015031)			p.D1440H(1)|p.D1415H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAACTTCTAGATGGCACTCA	0.348																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			2	Substitution - Missense(2)	p.D1440H(1)|p.D1415H(1)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4318-4320)Gat>Aat		vacuolar protein sorting 13 homolog B (yeast)							76.0	79.0	78.0					8																	100523350		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523350G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4318G>A	8.37:g.100523350G>A	ENSP00000351346:p.Asp1440Asn					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N	p.D1440N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4429	+	Breast(36;3.73e-07)		1440					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4318G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548074	0.65311	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.40225	1.04;1.04	5.42	5.42	0.78866	.	0.127271	0.53938	D	0.000046	T	0.51398	0.1672	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56746	0.977;0.873;0.877	P;P;P	0.54499	0.754;0.599;0.494	T	0.51204	-0.8735	10	0.62326	D	0.03	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1439;1415;1440	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	N	1415;1440	ENSP00000349685:D1415N;ENSP00000351346:D1440N	ENSP00000349685:D1415N	D	+	1	0	VPS13B	100592526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.537000	0.98070	2.705000	0.92388	0.484000	0.47621	GAT		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		68	342	0	0	0	1	0	68	342				
DENND3	22898	broad.mit.edu	37	8	142146842	142146842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146842G>A	ENST00000262585.2	+	2	375	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	DENND3_ENST00000519811.1_Missense_Mutation_p.V113I|DENND3_ENST00000424248.1_Missense_Mutation_p.V33I|DENND3_ENST00000518347.1_Missense_Mutation_p.V113I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	33	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGTCGCCGTCCCGGGCGG	0.687																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(337-339)Gtc>Atc		DENN/MADD domain containing 3							14.0	18.0	17.0					8																	142146842		2196	4290	6486	SO:0001583	missense	22898							g.chr8:142146842G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.97G>A	8.37:g.142146842G>A	ENSP00000262585:p.Val33Ile					DENND3_ENST00000424248.1_Missense_Mutation_p.V33I|DENND3_ENST00000262585.2_Missense_Mutation_p.V33I|DENND3_ENST00000518347.1_Missense_Mutation_p.V113I	p.V113I			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		2	407	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		33			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.337G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.338|0.338	-0.952181|-0.952181	0.02285|0.02285	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.|T;T;T;T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.61|5.61	-2.87|-2.87	0.05700|0.05700	.|uDENN (1);	.|0.737094	.|0.13752	.|N	.|0.365220	T|T	0.23133|0.23133	0.0559|0.0559	N|N	0.02247|0.02247	-0.625|-0.625	0.09310|0.09310	N|N	0.99999|0.99999	.|B;B;B;B	.|0.26258	.|0.145;0.087;0.021;0.06	.|B;B;B;B	.|0.25614	.|0.062;0.034;0.013;0.009	T|T	0.21965|0.21965	-1.0230|-1.0230	5|10	.|0.11182	.|T	.|0.66	-2.4659|-2.4659	14.6426|14.6426	0.68737|0.68737	0.4152:0.0:0.5848:0.0|0.4152:0.0:0.5848:0.0	.|.	.|113;33;113;113	.|E9PF32;A2RUS2;E5RHH2;E5RIR7	.|.;DEND3_HUMAN;.;.	H|I	89|46;113;33;33;113;113;113	.|ENSP00000430625:V46I;ENSP00000430695:V113I;ENSP00000262585:V33I;ENSP00000410594:V33I;ENSP00000428714:V113I;ENSP00000429780:V113I;ENSP00000430786:V113I	.|ENSP00000262585:V33I	R|V	+|+	2|1	0|0	DENND3|DENND3	142216024|142216024	0.014000|0.014000	0.17966|0.17966	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	0.016000|0.016000	0.13377|0.13377	-0.790000|-0.790000	0.04492|0.04492	-0.806000|-0.806000	0.03193|0.03193	CGT|GTC		0.687	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		21	59	0	0	0	1	0	21	59				
ASIC3	9311	broad.mit.edu	37	7	150746403	150746403	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150746403T>G	ENST00000349064.5	+	1	629	c.431T>G	c.(430-432)tTt>tGt	p.F144C	ASIC3_ENST00000297512.8_Missense_Mutation_p.F144C|ASIC3_ENST00000357922.4_Missense_Mutation_p.F144C	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	144					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										AGTCCCACCTTTGACATGGCG	0.677																																						ENST00000357922.4																			0											c.(430-432)tTt>tGt		acid-sensing (proton-gated) ion channel 3							52.0	53.0	53.0					7																	150746403		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746403T>G	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.431T>G	7.37:g.150746403T>G	ENSP00000344838:p.Phe144Cys					ASIC3_ENST00000349064.5_Missense_Mutation_p.F144C|ASIC3_ENST00000297512.8_Missense_Mutation_p.F144C	p.F144C	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	1025	+			144					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.431T>G	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805760	0.70682	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.66995	-0.24;-0.24;-0.24	5.29	4.0	0.46444	.	0.250837	0.20540	U	0.090326	T	0.80670	0.4667	M	0.87269	2.87	0.36503	D	0.869135	D;D;D	0.76494	0.995;0.999;0.998	D;D;D	0.70016	0.944;0.967;0.961	D	0.84765	0.0764	10	0.72032	D	0.01	-14.7272	7.5997	0.28069	0.3115:0.0:0.0:0.6885	.	144;144;144	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	C	144	ENSP00000350600:F144C;ENSP00000344838:F144C;ENSP00000297512:F144C	ENSP00000297512:F144C	F	+	2	0	ACCN3	150377336	0.136000	0.22515	1.000000	0.80357	0.925000	0.55904	0.467000	0.22035	2.142000	0.66516	0.459000	0.35465	TTT		0.677	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		65	260	0	0	0	1	0	65	260				
ALS2	57679	broad.mit.edu	37	2	202632036	202632036	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202632036T>G	ENST00000264276.6	-	3	463	c.91A>C	c.(91-93)Aca>Cca	p.T31P	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.T31P	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	31					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTCTCTGGTGTTATGGGAAAG	0.473																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(91-93)Aca>Cca		amyotrophic lateral sclerosis 2 (juvenile)							103.0	101.0	102.0					2																	202632036		1911	4133	6044	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202632036T>G	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.91A>C	2.37:g.202632036T>G	ENSP00000264276:p.Thr31Pro					ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.T31P	p.T31P	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			3	463	-			31					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.91A>C	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719253	0.68844	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	6.07	4.92	0.64577	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.265070	0.42682	D	0.000678	D	0.89076	0.6612	M	0.74258	2.255	0.42157	D	0.99158	D;D;D;P	0.76494	0.999;0.98;0.974;0.944	D;P;P;P	0.69142	0.962;0.731;0.548;0.462	D	0.88998	0.3419	10	0.59425	D	0.04	.	9.9432	0.41593	0.0:0.1356:0.0:0.8644	.	31;31;31;31	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	P	31	ENSP00000264276:T31P;ENSP00000429223:T31P;ENSP00000386384:T31P;ENSP00000386948:T31P	ENSP00000264276:T31P	T	-	1	0	ALS2	202340281	0.931000	0.31567	0.807000	0.32361	0.997000	0.91878	1.289000	0.33307	1.114000	0.41781	0.533000	0.62120	ACA		0.473	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		71	176	0	0	0	1	0	71	176				
SH3BP1	23616	broad.mit.edu	37	22	38043329	38043329	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043329C>T	ENST00000357436.4	+	12	1405	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	SH3BP1_ENST00000599616.1_Silent_p.L300L|SH3BP1_ENST00000336738.5_Silent_p.L364L|SH3BP1_ENST00000442465.2_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	364	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTTCGACCTCTATGATGACT	0.627																																						ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(898-900)ctC>ctT		SH3-domain binding protein 1							114.0	113.0	113.0					22																	38043329		2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38043329C>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1092C>T	22.37:g.38043329C>T						SH3BP1_ENST00000442465.2_Silent_p.L364L|SH3BP1_ENST00000357436.4_Silent_p.L364L|SH3BP1_ENST00000336738.5_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA	p.L300L			Q9Y3L3	3BP1_HUMAN			10	900	+	Melanoma(58;0.0574)		364			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	c.900C>T	CCDS13952.2																																																																																				0.627	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		23	681	0	0	0	1	0	23	681				
ANXA1	301	broad.mit.edu	37	9	75775219	75775219	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:75775219T>C	ENST00000376911.1	+	4	1193	c.311T>C	c.(310-312)cTt>cCt	p.L104P	ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P			P04083	ANXA1_HUMAN	annexin A1	104					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ACAGGTCACCTTGAGGAGGTT	0.413																																						ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(310-312)cTt>cCt		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						118.0	121.0	120.0					9																	75775219		2203	4300	6503	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775219T>C	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.311T>C	9.37:g.75775219T>C	ENSP00000366109:p.Leu104Pro					ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P	p.L104P			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	4	1193	+		all_epithelial(88;2.54e-11)	104						Missense_Mutation	SNP	ENST00000376911.1	37	c.311T>C	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284754	0.80803	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.92	5.92	0.95590	Annexin repeat, conserved site (1);	0.182863	0.48767	D	0.000169	T	0.32010	0.0815	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.43829	-0.9367	10	0.87932	D	0	.	16.0339	0.80608	0.0:0.0:0.0:1.0	.	104	P04083	ANXA1_HUMAN	P	104;115;104;104	ENSP00000257497:L104P;ENSP00000412489:L115P;ENSP00000414013:L104P;ENSP00000366109:L104P	ENSP00000257497:L104P	L	+	2	0	ANXA1	74965039	0.838000	0.29461	0.927000	0.36925	0.644000	0.38419	5.484000	0.66844	2.260000	0.74910	0.528000	0.53228	CTT		0.413	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		81	382	0	0	0	1	0	81	382				
MYBPC1	4604	broad.mit.edu	37	12	102040565	102040565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102040565C>T	ENST00000550270.1	+	11	915	c.915C>T	c.(913-915)tgC>tgT	p.C305C	MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000536007.1_Silent_p.C286C|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000549145.1_Silent_p.C318C|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Silent_p.C279C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000553190.1_Silent_p.C305C|RP11-755O11.2_ENST00000547027.1_RNA|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000541119.1_Silent_p.C293C|MYBPC1_ENST00000361466.2_Silent_p.C330C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	305	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAAAGGATGCCAGAGAATCC	0.363																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(952-954)tgC>tgT		myosin binding protein C, slow type							89.0	86.0	87.0					12																	102040565		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102040565C>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.915C>T	12.37:g.102040565C>T						MYBPC1_ENST00000553190.1_Silent_p.C305C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.C305C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000547405.1_Silent_p.C279C|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000361466.2_Silent_p.C330C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000536007.1_Silent_p.C286C|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000541119.1_Silent_p.C293C	p.C318C			Q00872	MYPC1_HUMAN			12	1054	+			305			Ig-like C2-type 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.954C>T	CCDS9085.1																																																																																				0.363	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			40	198	0	0	0	1	0	40	198				
TLR2	7097	broad.mit.edu	37	4	154624431	154624431	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154624431T>A	ENST00000260010.6	+	1	1780	c.372T>A	c.(370-372)tcT>tcA	p.S124S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	124					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AGCCCCTTTCTTCTTTAACAT	0.363																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(370-372)tcT>tcA		toll-like receptor 2							37.0	41.0	40.0					4																	154624431		2200	4297	6497	SO:0001819	synonymous_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624431T>A	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.372T>A	4.37:g.154624431T>A							p.S124S	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	1780	+	all_hematologic(180;0.093)	Renal(120;0.117)	124					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	37	c.372T>A	CCDS3784.1																																																																																				0.363	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			7	266	0	0	0	1	0	7	266				
GRIP2	80852	broad.mit.edu	37	3	14547207	14547207	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14547207G>A	ENST00000273083.3	-	0	2553							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGTCCTCCGGGGCTCGGTGGG	0.682																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							19.0	22.0	21.0					3																	14547207		1949	4108	6057			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14547207G>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14547207G>A										Q9C0E4	GRIP2_HUMAN			0	2553	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.682	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		12	47	0	0	0	1	0	12	47				
SPTA1	6708	broad.mit.edu	37	1	158626413	158626413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158626413C>T	ENST00000368147.4	-	20	3019	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	947					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTGAGATCTAATAGAAAG	0.403																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2839-2841)Gat>Aat		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							163.0	164.0	164.0					1																	158626413		1840	4085	5925	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158626413C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2839G>A	1.37:g.158626413C>T	ENSP00000357129:p.Asp947Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.D947N	p.D947N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			20	3019	-	all_hematologic(112;0.0378)		947					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2839G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274421	0.95459	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.69561	-0.41;-0.41	5.5	5.5	0.81552	.	0.000000	0.33110	N	0.005265	T	0.82259	0.4998	M	0.86573	2.825	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.82649	-0.0353	10	0.51188	T	0.08	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	947	P02549	SPTA1_HUMAN	N	947	ENSP00000357130:D947N;ENSP00000357129:D947N	ENSP00000357129:D947N	D	-	1	0	SPTA1	156893037	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	6.502000	0.73695	2.861000	0.98227	0.655000	0.94253	GAT		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		139	510	0	0	0	1	0	139	510				
PACRGL	133015	broad.mit.edu	37	4	20706376	20706376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20706376A>C	ENST00000503585.1	+	3	537	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PACRGL_ENST00000360916.5_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A|PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	49										endometrium(2)|lung(7)|prostate(1)	10						AGTTCTCCAGAGTCTGCAAGA	0.383																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(145-147)gAg>gCg		PARK2 co-regulated-like							139.0	129.0	133.0					4																	20706376		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20706376A>C	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.146A>C	4.37:g.20706376A>C	ENSP00000423881:p.Glu49Ala					PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A|PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000503585.1_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A	p.E49A	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			3	537	+			49					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.146A>C	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670657	0.67814	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.56	3.07	0.35406	.	0.389405	0.26923	N	0.021802	T	0.29223	0.0727	L	0.54323	1.7	0.29518	N	0.853726	D;P;P;B;B;P	0.54601	0.967;0.605;0.799;0.264;0.104;0.675	P;B;B;B;B;B	0.45971	0.499;0.204;0.272;0.124;0.058;0.298	T	0.12889	-1.0530	9	0.10111	T	0.7	-6.607	4.8074	0.13326	0.7167:0.0:0.1419:0.1414	.	49;49;97;49;49;49	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	A	97;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49	.	ENSP00000295290:E49A	E	+	2	0	PACRGL	20315474	0.985000	0.35326	0.766000	0.31476	0.978000	0.69477	2.811000	0.47986	1.006000	0.39211	0.533000	0.62120	GAG		0.383	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		87	417	0	0	0	1	0	87	417				
FCGBP	8857	broad.mit.edu	37	19	40362919	40362919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40362919C>T	ENST00000221347.6	-	32	15158	c.15151G>A	c.(15151-15153)Ggg>Agg	p.G5051R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5051	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGAGCTGCCCGCAGGCCTCG	0.672																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15151-15153)Ggg>Agg		Fc fragment of IgG binding protein							46.0	53.0	50.0					19																	40362919		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40362919C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15151G>A	19.37:g.40362919C>T	ENSP00000221347:p.Gly5051Arg						p.G5051R	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15158	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5051			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15151G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031002	0.54790	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	4.84	4.84	0.62591	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	U	0.000001	D	0.87861	0.6284	M	0.82517	2.595	0.40004	D	0.975208	D	0.89917	1.0	D	0.97110	1.0	D	0.87291	0.2299	10	0.33141	T	0.24	.	14.9744	0.71261	0.0:1.0:0.0:0.0	.	5051	Q9Y6R7	FCGBP_HUMAN	R	5051	ENSP00000221347:G5051R	ENSP00000221347:G5051R	G	-	1	0	FCGBP	45054759	0.047000	0.20315	0.851000	0.33527	0.103000	0.19146	1.926000	0.40084	2.521000	0.84997	0.462000	0.41574	GGG		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		144	508	0	0	0	1	0	144	508				
CLEC11A	6320	broad.mit.edu	37	19	51228461	51228461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51228461C>T	ENST00000250340.4	+	4	906	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	237	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTACAACTGGCCCGTGTGGCT	0.726																																						ENST00000250340.4																			0				kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(709-711)Ccc>Tcc		C-type lectin domain family 11, member A							7.0	10.0	9.0					19																	51228461		2126	4215	6341	SO:0001583	missense	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51228461C>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.709C>T	19.37:g.51228461C>T	ENSP00000250340:p.Pro237Ser					CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	p.P237S	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	906	+		all_neural(266;0.057)	237			C-type lectin.		B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	37	c.709C>T	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892560	0.91889	.	.	ENSG00000105472	ENST00000250340	T	0.15952	2.38	3.91	3.91	0.45181	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.212847	0.39834	N	0.001246	T	0.27967	0.0689	L	0.28400	0.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	T	0.02519	-1.1147	10	0.27785	T	0.31	-23.8668	15.1898	0.73035	0.0:1.0:0.0:0.0	.	237	Q9Y240	CLC11_HUMAN	S	237	ENSP00000250340:P237S	ENSP00000250340:P237S	P	+	1	0	CLEC11A	55920273	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	6.160000	0.71862	2.177000	0.69029	0.455000	0.32223	CCC		0.726	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		9	51	0	0	0	1	0	9	51				
GCLM	2730	broad.mit.edu	37	1	94354716	94354716	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94354716C>A	ENST00000370238.3	-	7	902		c.e7-1			NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit						apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	GAAAGCAGTTCTAAAAGAAAC	0.408																																						ENST00000370238.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e7-1		glutamate-cysteine ligase, modifier subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						25.0	26.0	26.0					1																	94354716		2203	4299	6502	SO:0001630	splice_region_variant	2730				glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding	g.chr1:94354716C>A	L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.656-1G>T	1.37:g.94354716C>A								NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	7	902	-		all_lung(203;0.000815)|Lung NSC(277;0.00363)						A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Splice_Site	SNP	ENST00000370238.3	37		CCDS746.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001447	0.54254	.	.	ENSG00000023909	ENST00000370238	.	.	.	5.33	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9411	0.64054	0.0:0.9264:0.0:0.0736	.	.	.	.	.	-1	.	.	.	-	.	.	GCLM	94127304	1.000000	0.71417	0.987000	0.45799	0.728000	0.41692	7.334000	0.79224	1.255000	0.44051	-0.229000	0.12294	.		0.408	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061	Intron	13	100	1	0	5.50884e-06	1	5.65664e-06	13	100				
KLHL36	79786	broad.mit.edu	37	16	84695391	84695391	+	Silent	SNP	C	C	T	rs372073383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84695391C>T	ENST00000564996.1	+	5	1644	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	KLHL36_ENST00000258157.5_Silent_p.S438S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	501					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCGGGGGCAGCGATGACAACA	0.682																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1501-1503)agC>agT		kelch-like family member 36		C		0,4398		0,0,2199	67.0	60.0	62.0		1503	-3.6	1.0	16		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL36	NM_024731.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		501/617	84695391	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84695391C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1503C>T	16.37:g.84695391C>T						KLHL36_ENST00000258157.5_Silent_p.S438S	p.S501S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1644	+			501					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.1503C>T	CCDS10948.1																																																																																				0.682	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			90	239	0	0	0	1	0	90	239				
RAET1L	154064	broad.mit.edu	37	6	150343282	150343282	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150343282A>C	ENST00000367341.1	-	2	182	c.183T>G	c.(181-183)ttT>ttG	p.F61L	RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	61	MHC class I alpha-1 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CATAGTGAAGAAAAGTCTTTT	0.507																																						ENST00000367341.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(181-183)ttT>ttG		retinoic acid early transcript 1L							110.0	94.0	100.0					6																	150343282		2199	4300	6499	SO:0001583	missense	154064				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex		g.chr6:150343282A>C	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.183T>G	6.37:g.150343282A>C	ENSP00000356310:p.Phe61Leu					RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L	p.F61L			Q5VY80	RET1L_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	2	182	-		Ovarian(120;0.028)	61			MHC class I alpha-1 like (By similarity).		A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	c.183T>G	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	a	12.84	2.058711	0.36277	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.01295	5.04;5.04	1.91	0.704	0.18121	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01730	0.0055	M	0.75264	2.295	0.09310	N	1	D	0.60575	0.988	P	0.58391	0.838	T	0.44314	-0.9336	9	0.72032	D	0.01	.	3.7235	0.08466	0.7951:0.0:0.2049:0.0	.	61	Q5VY80	RET1L_HUMAN	L	61	ENSP00000356310:F61L;ENSP00000286380:F61L	ENSP00000286380:F61L	F	-	3	2	RAET1L	150384975	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-1.225000	0.02956	0.196000	0.20367	0.402000	0.26972	TTT		0.507	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		104	480	0	0	0	1	0	104	480				
FREM1	158326	broad.mit.edu	37	9	14841558	14841558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14841558C>A	ENST00000380880.3	-	10	2551	c.1768G>T	c.(1768-1770)Gat>Tat	p.D590Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y|FREM1_ENST00000380881.4_Missense_Mutation_p.D591Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	590					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTAAACAAATCCCTCTGAAGG	0.388																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1771-1773)Gat>Tat		FRAS1 related extracellular matrix 1							136.0	126.0	129.0					9																	14841558		1851	4098	5949	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14841558C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1768G>T	9.37:g.14841558C>A	ENSP00000370262:p.Asp590Tyr					FREM1_ENST00000380880.3_Missense_Mutation_p.D590Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y	p.D591Y			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2586	-			590					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1771G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733208	0.89482	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.54866	0.55;0.55;0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.81479	0.4831	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84940	0.0865	10	0.87932	D	0	-17.8822	20.5568	0.99304	0.0:1.0:0.0:0.0	.	590	Q5H8C1	FREM1_HUMAN	Y	591;590;590	ENSP00000370263:D591Y;ENSP00000412940:D590Y;ENSP00000370262:D590Y	ENSP00000370257:D593Y	D	-	1	0	FREM1	14831558	1.000000	0.71417	0.767000	0.31495	0.938000	0.57974	7.417000	0.80156	2.861000	0.98227	0.655000	0.94253	GAT		0.388	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		57	451	1	0	6.20203e-27	1	7.16519e-27	57	451				
C11orf16	56673	broad.mit.edu	37	11	8950933	8950933	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8950933G>T	ENST00000326053.5	-	3	421	c.315C>A	c.(313-315)gcC>gcA	p.A105A	C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	105										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCTCGGGAGTGGCCTTTATTT	0.572																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(313-315)gcC>gcA		chromosome 11 open reading frame 16							109.0	103.0	105.0					11																	8950933		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8950933G>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.315C>A	11.37:g.8950933G>T						C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	p.A105A	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	3	421	-			105					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.315C>A	CCDS7794.1																																																																																				0.572	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		23	215	1	0	1.66031e-10	1	1.76115e-10	23	215				
RASL10A	10633	broad.mit.edu	37	22	29708458	29708458	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29708458C>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Missense_Mutation_p.P446L|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TCAGTCACCCCGAGGGCTGAG	0.637																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1336-1338)cCg>cTg		growth arrest-specific 2 like 1							16.0	19.0	18.0					22																	29708458		1987	4160	6147	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708458C>T	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708458C>T						GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR	p.P446L			Q99501	GA2L1_HUMAN			6	1487	+			673					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1337C>T	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370619	0.42003	.	.	ENSG00000185340	ENST00000333679;ENST00000406549	T	0.57752	0.38	3.32	2.31	0.28768	.	.	.	.	.	T	0.35998	0.0951	.	.	.	0.54753	D	0.999987	B;P;P	0.47253	0.342;0.892;0.892	B;B;B	0.32149	0.05;0.141;0.141	T	0.34527	-0.9825	8	0.87932	D	0	-0.9708	8.5293	0.33324	0.0:0.8849:0.0:0.1151	.	446;673;673	B5MCR7;A0A5E8;Q99501	.;.;GA2L1_HUMAN	L	672;446	ENSP00000383995:P446L	ENSP00000332834:P672L	P	+	2	0	GAS2L1	28038458	0.240000	0.23847	0.044000	0.18714	0.936000	0.57629	4.690000	0.61731	0.986000	0.38683	0.491000	0.48974	CCG		0.637	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			20	125	0	0	0	1	0	20	125				
GMFG	9535	broad.mit.edu	37	19	39826613	39826613	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39826613C>T	ENST00000597595.1	-	1	212		c.e1+1		GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000598034.1_Splice_Site|GMFG_ENST00000253054.8_Splice_Site|GMFG_ENST00000601387.1_Splice_Site|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000602185.1_Splice_Site	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma						negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGCCCCTGACCATGATTGTT	0.622																																						ENST00000598034.1																			0				breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10						c.e1+1		glia maturation factor, gamma							55.0	47.0	50.0					19																	39826613		2203	4300	6503	SO:0001630	splice_region_variant	9535				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	g.chr19:39826613C>T	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.3+1G>A	19.37:g.39826613C>T						GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000253054.8_Splice_Site|GMFG_ENST00000601387.1_Splice_Site|GMFG_ENST00000597595.1_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000602185.1_Splice_Site				O60234	GMFG_HUMAN	Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	33	-	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)							Q6IB37	Splice_Site	SNP	ENST00000597595.1	37		CCDS12532.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736996	0.30774	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7108	0.51625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GMFG	44518453	0.990000	0.36364	1.000000	0.80357	0.420000	0.31355	2.121000	0.41977	2.113000	0.64589	0.511000	0.50034	.		0.622	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1		Intron	6	133	0	0	0	1	0	6	133				
COL8A1	1295	broad.mit.edu	37	3	99514881	99514881	+	Silent	SNP	C	C	T	rs567228826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99514881C>T	ENST00000261037.3	+	5	2516	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	COL8A1_ENST00000273342.4_Silent_p.D712D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	712	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCCGGAGACCGGGTGTTCC	0.537																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(2134-2136)gaC>gaT		collagen, type VIII, alpha 1							40.0	39.0	39.0					3																	99514881		2203	4300	6503	SO:0001819	synonymous_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514881C>T	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2136C>T	3.37:g.99514881C>T						COL8A1_ENST00000273342.4_Silent_p.D712D	p.D712D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	2516	+			712			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	c.2136C>T	CCDS2934.1																																																																																				0.537	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		51	220	0	0	0	1	0	51	220				
PTX4	390667	broad.mit.edu	37	16	1538395	1538395	+	Intron	SNP	C	C	T	rs559417572		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1538395C>T	ENST00000447419.2	-	1	167				PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.R25H			Q96A99	PTX4_HUMAN	pentraxin 4, long							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GTGGACCCCGCGTGGGAGTCC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16116	0.0		0.0	False		,,,				2504	0.0					ENST00000293922.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(73-75)cGc>cAc		pentraxin 4, long							61.0	56.0	58.0					16																	1538395		2199	4300	6499	SO:0001627	intron_variant	390667					extracellular region	metal ion binding	g.chr16:1538395C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.141+374G>A	16.37:g.1538395C>T						PTX4_ENST00000440447.2_Intron|PTX4_ENST00000447419.2_Intron	p.R25H	NM_001013658.1	NP_001013680.1	Q96A99	PTX4_HUMAN			1	73	-			0						Missense_Mutation	SNP	ENST00000447419.2	37	c.74G>A		.	.	.	.	.	.	.	.	.	.	C	10.80	1.452200	0.26074	.	.	ENSG00000251692	ENST00000293922	T	0.06933	3.24	2.56	-2.54	0.06307	.	209.819000	0.00166	N	0.000000	T	0.07052	0.0179	.	.	.	0.09310	N	1	D	0.52996	0.957	B	0.38500	0.275	T	0.39482	-0.9612	9	0.87932	D	0	.	6.5526	0.22442	0.0:0.3279:0.5471:0.125	.	25	Q96A99-2	.	H	25	ENSP00000293922:R25H	ENSP00000293922:R25H	R	-	2	0	PTX4	1478396	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.680000	0.05197	-0.538000	0.06281	0.563000	0.77884	CGC		0.667	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		13	360	0	0	0	1	0	13	360				
ZNF700	90592	broad.mit.edu	37	19	12059625	12059625	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12059625T>C	ENST00000254321.5	+	4	929	c.786T>C	c.(784-786)tcT>tcC	p.S262S	ZNF700_ENST00000482090.1_Silent_p.S244S|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTACTTATTCTGCTACCCTTC	0.358																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(730-732)tcT>tcC		zinc finger protein 700							48.0	47.0	48.0					19																	12059625		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059625T>C	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.786T>C	19.37:g.12059625T>C						ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.S262S|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.S244S			Q9H0M5	ZN700_HUMAN			3	1150	+			262					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.732T>C	CCDS32915.1																																																																																				0.358	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		36	207	0	0	0	1	0	36	207				
LRRTM1	347730	broad.mit.edu	37	2	80530896	80530896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530896G>A	ENST00000295057.3	-	2	705	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	17					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACCCCCGAGGGCCTCCTCAGC	0.632										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(49-51)Ccc>Tcc		leucine rich repeat transmembrane neuronal 1							22.0	26.0	25.0					2																	80530896		2076	4202	6278	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530896G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.49C>T	2.37:g.80530896G>A	ENSP00000295057:p.Pro17Ser	HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000402739.4_Intron	p.P17S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	705	-			17					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.49C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988266	0.18966	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.53857	1.1;1.1;0.77;0.6;1.56	4.46	3.57	0.40892	.	0.070231	0.56097	U	0.000023	T	0.37073	0.0990	L	0.38175	1.15	0.52501	D	0.999957	P	0.38788	0.647	B	0.28553	0.091	T	0.12785	-1.0534	9	.	.	.	.	13.6624	0.62374	0.0:0.0:0.8437:0.1562	.	17	Q86UE6	LRRT1_HUMAN	S	17	ENSP00000295057:P17S;ENSP00000386646:P17S;ENSP00000415368:P17S;ENSP00000389473:P17S;ENSP00000404557:P17S	.	P	-	1	0	LRRTM1	80384407	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.979000	0.88103	0.847000	0.35167	0.185000	0.17295	CCC		0.632	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		76	220	0	0	0	1	0	76	220				
PLXDC2	84898	broad.mit.edu	37	10	20432253	20432253	+	Nonsense_Mutation	SNP	C	C	T	rs367982414		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20432253C>T	ENST00000377252.4	+	5	1412	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	191					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGTCGTACATCGAATGCTAAC	0.333																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(571-573)Cga>Tga		plexin domain containing 2		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	156.0	148.0	151.0		571	4.9	1.0	10		151	0,8600		0,0,4300	no	stop-gained	PLXDC2	NM_032812.7		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		191/530	20432253	1,13005	2203	4300	6503	SO:0001587	stop_gained	84898					integral to membrane		g.chr10:20432253C>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.571C>T	10.37:g.20432253C>T	ENSP00000366460:p.Arg191*					PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*|PLXDC2_ENST00000377238.2_3'UTR	p.R191*	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			5	1412	+			191					Q96E59|Q96PD9|Q96SU9	Nonsense_Mutation	SNP	ENST00000377252.4	37	c.571C>T	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	46	12.108986	0.99637	2.27E-4	0.0	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	.	.	.	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1463	0.81575	0.1346:0.8654:0.0:0.0	.	.	.	.	X	191;142;54;177	.	ENSP00000366446:R54X	R	+	1	2	PLXDC2	20472259	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.678000	0.61641	1.425000	0.47237	0.563000	0.77884	CGA		0.333	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		86	436	0	0	0	1	0	86	436				
NPR2	4882	broad.mit.edu	37	9	35811225	35811225	+	IGR	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35811225T>G	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Missense_Mutation_p.E273A|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.E273A|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_Missense_Mutation_p.E271A	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CGGCAAAGTTTCATAGCAAAC	0.493																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(817-819)gAa>gCa		sperm associated antigen 8							101.0	117.0	112.0					9																	35811225		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811225T>G	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811225T>G						SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.E271A|SPAG8_ENST00000396638.2_Missense_Mutation_p.E273A	p.E273A	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	942	-	all_epithelial(49;0.161)		273					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.818A>C	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.03|13.03	2.115785|2.115785	0.37339|0.37339	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638|ENST00000497810	T;T;T|.	0.36520|.	1.25;1.3;1.29|.	5.65|5.65	3.27|3.27	0.37495|0.37495	.|.	0.693391|.	0.13793|.	N|.	0.362353|.	T|T	0.33118|0.33118	0.0852|0.0852	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;P|.	0.41673|.	0.759;0.759|.	B;B|.	0.41860|.	0.368;0.368|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|5	0.59425|.	D|.	0.04|.	-3.687|-3.687	5.4757|5.4757	0.16694|0.16694	0.0:0.0873:0.1753:0.7374|0.0:0.0873:0.1753:0.7374	.|.	273;273|.	E9PDV6;Q99932-2|.	.;.|.	A|Q	273;271;273|271	ENSP00000340982:E273A;ENSP00000418072:E271A;ENSP00000379878:E273A|.	ENSP00000340982:E273A|.	E|K	-|-	2|1	0|0	SPAG8|SPAG8	35801225|35801225	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.025000|0.025000	0.11179|0.11179	0.222000|0.222000	0.17699|0.17699	0.537000|0.537000	0.28751|0.28751	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.493	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			12	864	0	0	0	1	0	12	864				
FBXO24	26261	broad.mit.edu	37	7	100187909	100187909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100187909G>A	ENST00000241071.6	+	3	573	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	84					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCATCTGTCGCAGACTCAGT	0.592																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(250-252)cGc>cAc		F-box protein 24							75.0	61.0	66.0					7																	100187909		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187909G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.251G>A	7.37:g.100187909G>A	ENSP00000241071:p.Arg84His					FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H|FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	p.R84H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			3	573	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		84					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.251G>A	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428216	0.43122	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.69	1.76	0.24704	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.348956	0.22613	N	0.057818	T	0.28532	0.0706	L	0.39467	1.215	0.30175	N	0.800905	B;B;B;B	0.17268	0.008;0.021;0.008;0.017	B;B;B;B	0.15484	0.008;0.013;0.008;0.004	T	0.14559	-1.0468	10	0.40728	T	0.16	-6.8099	4.832	0.13445	0.1951:0.0:0.6348:0.1701	.	72;122;84;84	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	107;84;84;84;89;72;122	ENSP00000419587:R107H;ENSP00000241071:R84H;ENSP00000353821:R84H;ENSP00000419602:R84H;ENSP00000417179:R89H;ENSP00000420239:R72H;ENSP00000416558:R122H	ENSP00000241071:R84H	R	+	2	0	FBXO24	100025845	0.604000	0.26932	0.998000	0.56505	0.943000	0.58893	0.030000	0.13688	0.175000	0.19841	0.555000	0.69702	CGC		0.592	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			44	202	0	0	0	1	0	44	202				
RAP1GDS1	5910	broad.mit.edu	37	4	99214651	99214651	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99214651G>T	ENST00000408927.3	+	2	210	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	33					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTGCTTCAAGCCCTGGCTCA	0.358			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(97-99)Gcc>Tcc		RAP1, GTP-GDP dissociation stimulator 1							71.0	65.0	66.0					4																	99214651		1846	4088	5934	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99214651G>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.97G>T	4.37:g.99214651G>T	ENSP00000386153:p.Ala33Ser					RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S|RAP1GDS1_ENST00000512857.1_3'UTR	p.A33S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	2	210	+			33					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.97G>T	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052140	0.75960	.	.	ENSG00000138698	ENST00000509011;ENST00000380158;ENST00000264572;ENST00000508213;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T;T;T	0.52295	1.58;1.43;1.55;0.67;1.43;1.28;1.43;0.74;1.43;1.44	5.6	4.75	0.60458	Armadillo-like helical (1);	0.132185	0.48767	N	0.000170	T	0.59770	0.2218	L	0.56769	1.78	0.46874	D	0.999235	P;D;D;D;P;P;P	0.76494	0.869;0.996;0.994;0.999;0.822;0.824;0.822	P;D;D;D;P;B;P	0.78314	0.542;0.987;0.97;0.991;0.7;0.348;0.7	T	0.57705	-0.7765	10	0.07990	T	0.79	-0.798	13.7348	0.62811	0.0:0.0:0.8455:0.1544	.	34;33;34;33;34;34;33	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;.;GDS1_HUMAN;.;.;.	S	33;34;34;33;33;33;34;34;33;34	ENSP00000425992:A33S;ENSP00000369503:A34S;ENSP00000264572:A34S;ENSP00000426096:A33S;ENSP00000386153:A33S;ENSP00000424324:A33S;ENSP00000407157:A34S;ENSP00000421599:A34S;ENSP00000386223:A33S;ENSP00000340454:A34S	ENSP00000264572:A34S	A	+	1	0	RAP1GDS1	99433674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	1.328000	0.45358	0.557000	0.71058	GCC		0.358	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		27	117	1	0	7.26314e-15	1	7.90818e-15	27	117				
POU4F2	5458	broad.mit.edu	37	4	147561477	147561477	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561477C>T	ENST00000281321.3	+	2	995	c.747C>T	c.(745-747)agC>agT	p.S249S	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	249					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTGCATGAGCGACGTGGACG	0.697																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(745-747)agC>agT		POU class 4 homeobox 2							16.0	18.0	17.0					4																	147561477		2194	4294	6488	SO:0001819	synonymous_variant	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561477C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.747C>T	4.37:g.147561477C>T							p.S249S	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	995	+	all_hematologic(180;0.151)		249					B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.747C>T	CCDS34074.1																																																																																				0.697	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		30	114	0	0	0	1	0	30	114				
MOK	5891	broad.mit.edu	37	14	102695911	102695911	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102695911C>T	ENST00000361847.2	-	11	1296	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	MOK_ENST00000522874.1_Silent_p.S354S|MOK_ENST00000523231.1_Missense_Mutation_p.G50R|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000517966.1_Missense_Mutation_p.G50R|MOK_ENST00000193029.6_Intron|MOK_ENST00000524214.1_Silent_p.S325S|MOK_ENST00000522867.1_Missense_Mutation_p.G50R|MOK_ENST00000561150.1_Intron|MOK_ENST00000519058.1_Missense_Mutation_p.G50R|MOK_ENST00000524370.1_Missense_Mutation_p.G50R|MOK_ENST00000522534.1_Missense_Mutation_p.G50R	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	355					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TGACCACTCCCGAAAGCTTTA	0.537																																						ENST00000522867.1																			0											c.(148-150)Ggg>Agg		MOK protein kinase							96.0	90.0	92.0					14																	102695911		2203	4300	6503	SO:0001819	synonymous_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102695911C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.1065G>A	14.37:g.102695911C>T						MOK_ENST00000524370.1_Missense_Mutation_p.G50R|MOK_ENST00000522534.1_Missense_Mutation_p.G50R|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000361847.2_Silent_p.S355S|MOK_ENST00000519058.1_Missense_Mutation_p.G50R|MOK_ENST00000517966.1_Missense_Mutation_p.G50R|MOK_ENST00000524214.1_Silent_p.S325S|MOK_ENST00000561150.1_Intron|MOK_ENST00000523231.1_Missense_Mutation_p.G50R|MOK_ENST00000193029.6_Intron|MOK_ENST00000522874.1_Silent_p.S354S	p.G50R			Q9UQ07	MOK_HUMAN			4	1284	-			147			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.148G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	c	9.983	1.228656	0.22542	.	.	ENSG00000080823	ENST00000519058;ENST00000521937	.	.	.	5.22	-10.4	0.00318	.	.	.	.	.	T	0.22589	0.0545	.	.	.	0.24740	N	0.993042	.	.	.	.	.	.	T	0.36089	-0.9762	5	0.87932	D	0	.	0.7568	0.01000	0.3114:0.1407:0.1513:0.3966	.	.	.	.	R	50;67	.	ENSP00000429672:G50R	G	-	1	0	RAGE	101765664	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-5.850000	0.00094	-2.810000	0.00348	-1.391000	0.01154	GGG		0.537	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			11	387	0	0	0	1	0	11	387				
GLTSCR1	29998	broad.mit.edu	37	19	48197882	48197882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48197882C>T	ENST00000396720.3	+	8	2988	c.2794C>T	c.(2794-2796)Ccg>Tcg	p.P932S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	932										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGTCCCTGAGCCGGCAGCACC	0.682																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(2794-2796)Ccg>Tcg		glioma tumor suppressor candidate region gene 1							17.0	19.0	18.0					19																	48197882		1843	4078	5921	SO:0001583	missense	29998						protein binding	g.chr19:48197882C>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2794C>T	19.37:g.48197882C>T	ENSP00000379946:p.Pro932Ser					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.P932S	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	8	2988	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	932					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.2794C>T	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	7.119	0.577510	0.13686	.	.	ENSG00000063169	ENST00000396720	T	0.29655	1.56	2.67	2.67	0.31697	.	.	.	.	.	T	0.22126	0.0533	N	0.24115	0.695	0.27966	N	0.93657	D	0.55172	0.97	P	0.45506	0.483	T	0.04693	-1.0933	9	0.19147	T	0.46	.	10.9231	0.47176	0.0:1.0:0.0:0.0	.	932	Q9NZM4	GSCR1_HUMAN	S	932	ENSP00000379946:P932S	ENSP00000379946:P932S	P	+	1	0	GLTSCR1	52889694	0.747000	0.28283	0.604000	0.28916	0.012000	0.07955	0.000000	0.12993	1.436000	0.47453	0.289000	0.19496	CCG		0.682	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		41	161	0	0	0	1	0	41	161				
COL6A3	1293	broad.mit.edu	37	2	238253142	238253142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238253142G>T	ENST00000295550.4	-	36	7971	c.7519C>A	c.(7519-7521)Cta>Ata	p.L2507I	COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2507	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCTCATTAGGAATCCGTTC	0.522																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7519-7521)Cta>Ata		collagen, type VI, alpha 3							141.0	135.0	137.0					2																	238253142		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253142G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7519C>A	2.37:g.238253142G>T	ENSP00000295550:p.Leu2507Ile					COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I	p.L2507I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7971	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2507			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7519C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	8.214	0.800919	0.16397	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.87	3.99	0.46301	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000475	D	0.89312	0.6679	M	0.76574	2.34	0.51482	D	0.999924	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.83275	0.972;0.936;0.953;0.996	D	0.87282	0.2293	10	0.24483	T	0.36	.	13.4122	0.60948	0.0763:0.0:0.9237:0.0	.	1900;1900;2301;2507	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	I	2507;2306;2301;1900;2301;2307	ENSP00000295550:L2507I;ENSP00000315609:L2306I;ENSP00000315873:L2301I;ENSP00000418285:L1900I;ENSP00000386844:L2301I;ENSP00000295546:L2307I	ENSP00000295550:L2507I	L	-	1	2	COL6A3	237917881	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	6.486000	0.73629	1.171000	0.42768	0.655000	0.94253	CTA		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		201	581	1	0	8.84996e-99	1	1.13791e-98	201	581				
USP9X	8239	broad.mit.edu	37	X	41075627	41075627	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41075627G>A	ENST00000324545.8	+	35	6440	c.5807G>A	c.(5806-5808)cGt>cAt	p.R1936H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1936	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGATGAAGCGTATGTCATAC	0.373																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5806-5808)cGt>cAt		ubiquitin specific peptidase 9, X-linked							160.0	151.0	154.0					X																	41075627		2199	4297	6496	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075627G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5807G>A	X.37:g.41075627G>A	ENSP00000316357:p.Arg1936His					USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6440	+			1936					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5807G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668534	0.88348	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03413	3.94;3.94	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	M	0.77313	2.365	0.80722	D	1	D;P	0.89917	1.0;0.65	D;B	0.65233	0.933;0.372	T	0.00134	-1.2009	10	0.48119	T	0.1	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1936;1936	Q93008-1;Q93008	.;USP9X_HUMAN	H	1936	ENSP00000367558:R1936H;ENSP00000316357:R1936H	ENSP00000316357:R1936H	R	+	2	0	USP9X	40960571	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.465000	0.97660	2.439000	0.82584	0.544000	0.68410	CGT		0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		144	521	0	0	0	1	0	144	521				
PCDH19	57526	broad.mit.edu	37	X	99662630	99662630	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99662630C>T	ENST00000373034.4	-	1	2641	c.966G>A	c.(964-966)ggG>ggA	p.G322G	PCDH19_ENST00000420881.2_Silent_p.G322G|PCDH19_ENST00000255531.7_Silent_p.G322G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGGAATTGGGCCCCAAGTCCT	0.577																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(964-966)ggG>ggA		protocadherin 19							50.0	56.0	54.0					X																	99662630		2188	4266	6454	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662630C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.966G>A	X.37:g.99662630C>T						PCDH19_ENST00000420881.2_Silent_p.G322G|PCDH19_ENST00000255531.7_Silent_p.G322G	p.G322G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2641	-			322			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.966G>A	CCDS55462.1																																																																																				0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		65	264	0	0	0	1	0	65	264				
KIAA1958	158405	broad.mit.edu	37	9	115336390	115336390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115336390G>T	ENST00000337530.6	+	2	326	c.30G>T	c.(28-30)gaG>gaT	p.E10D	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	10										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCATCTGAGAATCTGTCCA	0.438																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(28-30)gaG>gaT		KIAA1958							82.0	80.0	80.0					9																	115336390		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336390G>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.30G>T	9.37:g.115336390G>T	ENSP00000336940:p.Glu10Asp					KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	p.E10D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			2	326	+			10					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.30G>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825386	0.32237	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	5.92	2.76	0.32466	.	0.000000	0.64402	D	0.000001	T	0.17109	0.0411	N	0.03608	-0.345	0.35121	D	0.767021	P;B	0.38020	0.615;0.384	B;B	0.36186	0.219;0.112	T	0.15093	-1.0449	9	0.45353	T	0.12	-2.8457	5.2392	0.15462	0.5361:0.0:0.4639:0.0	.	10;10	B7ZKW6;Q8N8K9	.;K1958_HUMAN	D	10	.	ENSP00000336940:E10D	E	+	3	2	KIAA1958	114376211	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.605000	0.46283	0.855000	0.35359	-0.266000	0.10368	GAG		0.438	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		67	297	1	0	2.69673e-31	1	3.17273e-31	67	297				
HEATR5A	25938	broad.mit.edu	37	14	31819115	31819115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31819115C>T	ENST00000389961.3	-	17	2569	c.2570G>A	c.(2569-2571)gGa>gAa	p.G857E	HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.G863E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	857										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTCTAGGGCTCCCATAACTAA	0.448																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(2587-2589)gGa>gAa		HEAT repeat containing 5A							48.0	47.0	47.0					14																	31819115		1879	4114	5993	SO:0001583	missense	25938						binding	g.chr14:31819115C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2570G>A	14.37:g.31819115C>T	ENSP00000374611:p.Gly857Glu					HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E|HEATR5A_ENST00000389961.3_Missense_Mutation_p.G857E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E	p.G863E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	18	2772	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		857					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2588G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637646|3.637646	0.67130|0.67130	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.61859	.|0.07;0.07;0.07;0.07;0.07	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.119841	.|0.56097	.|D	.|0.000036	T|T	0.68302|0.68302	0.2986|0.2986	M|M	0.66939|0.66939	2.045|2.045	0.52099|0.52099	D|D	0.999948|0.999948	.|D;P;D	.|0.63046	.|0.992;0.516;0.975	.|P;B;P	.|0.55785	.|0.736;0.26;0.784	T|T	0.68849|0.68849	-0.5300|-0.5300	5|10	.|0.45353	.|T	.|0.12	.|.	14.9096|14.9096	0.70746|0.70746	0.0:0.8572:0.1428:0.0|0.0:0.8572:0.1428:0.0	.|.	.|863;857;857	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	K|E	491|857;857;570;863;863	.|ENSP00000374611:G857E;ENSP00000405407:G857E;ENSP00000408681:G570E;ENSP00000437968:G863E;ENSP00000384646:G863E	.|ENSP00000374611:G857E	E|G	-|-	1|2	0|0	HEATR5A|HEATR5A	30888866|30888866	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.596000|0.596000	0.36781|0.36781	3.660000|3.660000	0.54496|0.54496	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.448	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		19	70	0	0	0	1	0	19	70				
LINC00969	440993	broad.mit.edu	37	3	195410661	195410661	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195410661G>T	ENST00000445430.1	+	0	1858									long intergenic non-protein coding RNA 969																		AGCCCATCCAGGGGCAACAGA	0.502																																						ENST00000445430.1																			0																																																			0							g.chr3:195410661G>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410661G>T														0	1858	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.502	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	37	1	0	0.000673444	1	0.000681208	9	37				
KIAA0408	9729	broad.mit.edu	37	6	127771148	127771148	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771148C>A	ENST00000483725.3	-	3	821	c.485G>T	c.(484-486)gGc>gTc	p.G162V	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	162										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTGAGGGCGCCAGAACAGCT	0.433																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(484-486)gGc>gTc		KIAA0408							86.0	83.0	84.0					6																	127771148		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127771148C>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.485G>T	6.37:g.127771148C>A	ENSP00000435150:p.Gly162Val					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.G162V	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	821	-			162					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.485G>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941767	0.18281	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.44083	1.51;0.93	5.71	2.4	0.29515	.	0.663988	0.11713	N	0.536664	T	0.14527	0.0351	L	0.39633	1.23	0.20074	N	0.999935	B	0.32203	0.36	B	0.32022	0.139	T	0.16012	-1.0417	10	0.39692	T	0.17	-0.3259	6.567	0.22517	0.2803:0.5805:0.0:0.1392	.	162	Q6ZU52	K0408_HUMAN	V	162;174	ENSP00000435150:G162V;ENSP00000434384:G174V	ENSP00000435150:G162V	G	-	2	0	KIAA0408	127812841	0.089000	0.21612	0.171000	0.22900	0.851000	0.48451	1.112000	0.31172	0.693000	0.31634	0.655000	0.94253	GGC		0.433	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		84	361	1	0	1.75807e-36	1	2.10477e-36	84	361				
C10orf120	399814	broad.mit.edu	37	10	124457595	124457595	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457595T>A	ENST00000329446.4	-	3	693	c.662A>T	c.(661-663)gAt>gTt	p.D221V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	221										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTTGGCATCATCACAATTATG	0.403																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(661-663)gAt>gTt		chromosome 10 open reading frame 120							112.0	94.0	100.0					10																	124457595		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457595T>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.662A>T	10.37:g.124457595T>A	ENSP00000331012:p.Asp221Val						p.D221V	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	693	-		all_neural(114;0.169)|Glioma(114;0.222)	221					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.662A>T	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313421	0.40996	.	.	ENSG00000183559	ENST00000329446	T	0.35973	1.28	4.71	-2.4	0.06583	.	0.760985	0.11541	N	0.553777	T	0.24851	0.0603	L	0.40543	1.245	0.09310	N	0.999991	P	0.44044	0.825	B	0.43103	0.408	T	0.12142	-1.0559	10	0.36615	T	0.2	-2.5136	2.9532	0.05868	0.3016:0.2686:0.0:0.4298	.	221	Q5SQS8	CJ120_HUMAN	V	221	ENSP00000331012:D221V	ENSP00000331012:D221V	D	-	2	0	C10orf120	124447585	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.290000	0.02777	-0.525000	0.06391	-0.323000	0.08544	GAT		0.403	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		45	181	0	0	0	1	0	45	181				
MICAL3	57553	broad.mit.edu	37	22	18301163	18301163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18301163G>T	ENST00000441493.2	-	26	4616	c.4264C>A	c.(4264-4266)Ctg>Atg	p.L1422M	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1422	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCTGGACAGCTCCCTGCGC	0.682																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4264-4266)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 3							29.0	35.0	33.0					22																	18301163		2011	4164	6175	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301163G>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4264C>A	22.37:g.18301163G>T	ENSP00000416015:p.Leu1422Met						p.L1422M	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4616	-		all_epithelial(15;0.198)	1422			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.4264C>A	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.657804|2.657804	0.47467|0.47467	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.70282|.	-0.47|.	4.42|4.42	3.15|3.15	0.36227|0.36227	.|.	.|.	.|.	.|.	.|.	T|T	0.50735|0.50735	0.1633|0.1633	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.48911|.	0.917|.	P|.	0.46659|.	0.523|.	T|T	0.53265|0.53265	-0.8463|-0.8463	9|5	0.49607|.	T|.	0.09|.	.|.	2.3109|2.3109	0.04186|0.04186	0.1661:0.1829:0.4897:0.1613|0.1661:0.1829:0.4897:0.1613	.|.	1422|.	Q7RTP6|.	MICA3_HUMAN|.	M|R	1422|403	ENSP00000416015:L1422M|.	ENSP00000416015:L1422M|.	L|S	-|-	1|3	2|2	XXbac-B461K10.4|XXbac-B461K10.4	16681163|16681163	0.779000|0.779000	0.28652|0.28652	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	0.914000|0.914000	0.28624|0.28624	2.013000|2.013000	0.59113|0.59113	0.455000|0.455000	0.32223|0.32223	CTG|AGC		0.682	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			105	330	1	0	7.47877e-49	1	9.23912e-49	105	330				
HEPHL1	341208	broad.mit.edu	37	11	93826709	93826709	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93826709C>T	ENST00000315765.9	+	13	2345	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	779	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTGGATTGGCTCTCAGTACA	0.433																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2335-2337)ggC>ggT		hephaestin-like 1							190.0	184.0	186.0					11																	93826709		1870	4116	5986	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93826709C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2337C>T	11.37:g.93826709C>T							p.G779G	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			13	2345	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	779			Plastocyanin-like 5.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2337C>T	CCDS44710.1																																																																																				0.433	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		119	665	0	0	0	1	0	119	665				
ZNF568	374900	broad.mit.edu	37	19	37441974	37441974	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37441974G>T	ENST00000333987.7	+	7	2425	c.1919G>T	c.(1918-1920)aGa>aTa	p.R640I	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.R576I|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAGGTGAGAGACACCAAGTA	0.363																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(1726-1728)aGa>aTa		zinc finger protein 568							47.0	53.0	51.0					19																	37441974		2075	4250	6325	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441974G>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1919G>T	19.37:g.37441974G>T	ENSP00000334685:p.Arg640Ile					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.R640I|ZNF568_ENST00000455427.2_Intron	p.R576I	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2103	+	Esophageal squamous(110;0.183)		640					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1727G>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091834	0.36952	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.08720	3.06;3.06	4.24	0.513	0.17000	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.449576	0.16444	N	0.214196	T	0.08582	0.0213	M	0.63169	1.94	0.41248	D	0.986695	B	0.16166	0.016	B	0.17979	0.02	T	0.14200	-1.0481	10	0.87932	D	0	.	3.3648	0.07199	0.5667:0.206:0.2274:0.0	.	640	Q3ZCX4	ZN568_HUMAN	I	640;576	ENSP00000334685:R640I;ENSP00000394514:R576I	ENSP00000334685:R640I	R	+	2	0	ZNF568	42133814	0.565000	0.26610	0.082000	0.20525	0.234000	0.25298	0.960000	0.29253	0.274000	0.22072	-0.423000	0.05987	AGA		0.363	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		35	266	1	0	2.42023e-17	1	2.67004e-17	35	266				
SLC38A8	146167	broad.mit.edu	37	16	84056428	84056428	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056428C>T	ENST00000299709.3	-	6	756	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	253					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCACAGACACCAGGGCCCAG	0.607																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(757-759)Gtg>Atg		solute carrier family 38, member 8							84.0	68.0	74.0					16																	84056428		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056428C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.757G>A	16.37:g.84056428C>T	ENSP00000299709:p.Val253Met						p.V253M	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	756	-			253						Missense_Mutation	SNP	ENST00000299709.3	37	c.757G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141028	0.37825	.	.	ENSG00000166558	ENST00000299709	T	0.02682	4.2	5.37	3.36	0.38483	.	0.187239	0.46758	D	0.000261	T	0.14570	0.0352	M	0.80746	2.51	0.48571	D	0.999673	D	0.67145	0.996	D	0.67231	0.95	T	0.00553	-1.1674	10	0.72032	D	0.01	.	14.7349	0.69409	0.0:0.7244:0.2756:0.0	.	253	A6NNN8	S38A8_HUMAN	M	253	ENSP00000299709:V253M	ENSP00000299709:V253M	V	-	1	0	SLC38A8	82613929	1.000000	0.71417	0.996000	0.52242	0.043000	0.13939	1.445000	0.35079	0.602000	0.29896	-0.326000	0.08463	GTG		0.607	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		19	196	0	0	0	1	0	19	196				
MBLAC2	153364	broad.mit.edu	37	5	89769706	89769706	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89769706G>T	ENST00000316610.6	-	1	879	c.404C>A	c.(403-405)gCc>gAc	p.A135D	POLR3G_ENST00000514483.1_5'Flank|MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	135						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						GAACTGTCTGGCCCTCCAGCC	0.682																																						ENST00000316610.6																			0				kidney(1)|liver(1)|lung(3)	5						c.(403-405)gCc>gAc		metallo-beta-lactamase domain containing 2							11.0	12.0	12.0					5																	89769706		2186	4275	6461	SO:0001583	missense	153364						hydrolase activity|metal ion binding	g.chr5:89769706G>T	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.404C>A	5.37:g.89769706G>T	ENSP00000314776:p.Ala135Asp					MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D	p.A135D	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN			1	879	-			135					D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	37	c.404C>A	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240964	0.95272	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122;ENST00000546270	T;T	0.42513	0.97;0.97	5.34	4.46	0.54185	Beta-lactamase-like (2);	0.047707	0.85682	N	0.000000	T	0.51753	0.1693	M	0.76328	2.33	0.80722	D	1	P	0.39311	0.667	P	0.45232	0.474	T	0.52895	-0.8514	10	0.37606	T	0.19	-12.2393	15.4054	0.74874	0.0:0.0:0.8598:0.1402	.	135	Q68D91	MBLC2_HUMAN	D	135;135;135;65	ENSP00000314776:A135D;ENSP00000425600:A135D	ENSP00000314776:A135D	A	-	2	0	AC093510.2;MBLAC2	89805462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.142000	0.94618	1.222000	0.43521	0.563000	0.77884	GCC		0.682	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		8	64	1	0	0.00307968	1	0.00310409	8	64				
NISCH	11188	broad.mit.edu	37	3	52521950	52521950	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521950G>A	ENST00000479054.1	+	17	2514	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	NISCH_ENST00000345716.4_Silent_p.Q814Q			Q9Y2I1	NISCH_HUMAN	nischarin	814	Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TTGCACCCCAGCACATGGCCA	0.612																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2440-2442)caG>caA		nischarin							44.0	37.0	39.0					3																	52521950		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521950G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2442G>A	3.37:g.52521950G>A						NISCH_ENST00000479054.1_Silent_p.Q814Q	p.Q814Q	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2576	+			814			Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.2442G>A	CCDS33767.1																																																																																				0.612	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		43	153	0	0	0	1	0	43	153				
CRHR2	1395	broad.mit.edu	37	7	30693138	30693138	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30693138A>G	ENST00000471646.1	-	12	1591	c.1174T>C	c.(1174-1176)Tcc>Ccc	p.S392P	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P|CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	392					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTAGGGATGGACATGGCCCGG	0.652																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1174-1176)Tcc>Ccc		corticotropin releasing hormone receptor 2							171.0	153.0	159.0					7																	30693138		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693138A>G		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1174T>C	7.37:g.30693138A>G	ENSP00000418722:p.Ser392Pro					CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P|CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P	p.S392P	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			12	1591	-			392					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1174T>C	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725952	0.89298	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.46819	0.86;0.99;0.87	4.45	4.45	0.53987	.	0.057019	0.64402	D	0.000001	T	0.68256	0.2981	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.994;0.987	T	0.72760	-0.4196	10	0.66056	D	0.02	.	12.0233	0.53356	1.0:0.0:0.0:0.0	.	391;419;378;392	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	P	392;419;378	ENSP00000418722:S392P;ENSP00000340943:S419P;ENSP00000344304:S378P	ENSP00000344304:S378P	S	-	1	0	CRHR2	30659663	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.300000	0.96151	1.793000	0.52555	0.378000	0.23410	TCC		0.652	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			146	596	0	0	0	1	0	146	596				
DNAH10	196385	broad.mit.edu	37	12	124274538	124274538	+	Missense_Mutation	SNP	G	G	A	rs201031616		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124274538G>A	ENST00000409039.3	+	11	1527	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	501	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R501H(1)|p.R319H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACCCCAAGCGCATTGATGAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		17264	0.001		0.0	False		,,,				2504	0.0					ENST00000409039.3																			2	Substitution - Missense(2)	p.R501H(1)|p.R319H(1)	endometrium(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1501-1503)cGc>cAc		dynein, axonemal, heavy chain 10							170.0	159.0	163.0					12																	124274538		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124274538G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1502G>A	12.37:g.124274538G>A	ENSP00000386770:p.Arg501His						p.R501H	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	11	1527	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		501			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.1502G>A	CCDS9255.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.22	3.333288	0.60853	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.2	5.2	0.72013	Dynein heavy chain, domain-1 (1);	0.251815	0.27068	N	0.021095	T	0.65770	0.2723	M	0.73962	2.25	0.29940	N	0.821176	D	0.71674	0.998	P	0.57548	0.823	T	0.66952	-0.5793	10	0.45353	T	0.12	.	12.4417	0.55629	0.0809:0.0:0.9191:0.0	.	501	Q8IVF4	DYH10_HUMAN	H	501	ENSP00000386770:R501H	ENSP00000386770:R501H	R	+	2	0	DNAH10	122840491	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	4.281000	0.58965	2.446000	0.82766	0.555000	0.69702	CGC		0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			137	676	0	0	0	1	0	137	676				
CEP131	22994	broad.mit.edu	37	17	79166137	79166137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79166137G>A	ENST00000269392.4	-	21	2859	c.2612C>T	c.(2611-2613)gCc>gTc	p.A871V	AZI1_ENST00000450824.2_Missense_Mutation_p.A868V|AZI1_ENST00000374782.3_Missense_Mutation_p.A832V|AZI1_ENST00000575907.1_Missense_Mutation_p.A835V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		871					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTGCGGCCGGCCTCCCACGC	0.701																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(2611-2613)gCc>gTc		5-azacytidine induced 1							9.0	10.0	10.0					17																	79166137		2145	4239	6384	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79166137G>A																												ENST00000269392.4:c.2612C>T	17.37:g.79166137G>A	ENSP00000269392:p.Ala871Val					AZI1_ENST00000374782.3_Missense_Mutation_p.A832V|AZI1_ENST00000450824.2_Missense_Mutation_p.A868V|AZI1_ENST00000575907.1_Missense_Mutation_p.A835V	p.A871V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		21	2859	-	all_neural(118;0.0804)|Melanoma(429;0.242)		871					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2612C>T		.	.	.	.	.	.	.	.	.	.	G	14.52	2.559498	0.45590	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16196	2.36;2.42;2.36	3.17	3.17	0.36434	.	0.186862	0.37012	N	0.002296	T	0.32585	0.0834	L	0.57536	1.79	0.39189	D	0.962925	D;D;D;D	0.76494	0.999;0.999;0.99;0.998	D;D;P;D	0.77557	0.99;0.98;0.844;0.938	T	0.06607	-1.0817	10	0.32370	T	0.25	-16.9678	10.2912	0.43596	0.0:0.0:0.8026:0.1974	.	868;871;832;868	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	V	868;832;871	ENSP00000393583:A868V;ENSP00000363914:A832V;ENSP00000269392:A871V	ENSP00000269392:A871V	A	-	2	0	AZI1	76780732	1.000000	0.71417	0.897000	0.35233	0.597000	0.36814	6.281000	0.72632	1.780000	0.52325	0.313000	0.20887	GCC		0.701	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			9	41	0	0	0	1	0	9	41				
ZBTB40	9923	broad.mit.edu	37	1	22832722	22832722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22832722C>T	ENST00000375647.4	+	6	1555	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S|ZBTB40_ENST00000404138.1_Missense_Mutation_p.P450S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	450					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCCACTTTGCCAAGCACCAC	0.488																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1348-1350)Cca>Tca		zinc finger and BTB domain containing 40							58.0	65.0	62.0					1																	22832722		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22832722C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1348C>T	1.37:g.22832722C>T	ENSP00000364798:p.Pro450Ser					ZBTB40_ENST00000375647.4_Missense_Mutation_p.P450S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S	p.P450S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	7	1859	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	450					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1348C>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837604	0.32513	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.06	4.18	0.49190	.	0.114274	0.39615	N	0.001303	T	0.60077	0.2241	L	0.32530	0.975	0.20307	N	0.999912	B;B	0.32653	0.17;0.379	B;B	0.28139	0.082;0.086	T	0.54669	-0.8259	10	0.54805	T	0.06	-8.6573	8.3286	0.32173	0.0:0.7265:0.1308:0.1427	.	338;450	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	450;450;450;338	ENSP00000384527:P450S;ENSP00000364798:P450S;ENSP00000383098:P450S;ENSP00000363782:P338S	ENSP00000363782:P338S	P	+	1	0	ZBTB40	22705309	0.799000	0.28903	0.153000	0.22517	0.711000	0.40976	1.179000	0.31993	0.875000	0.35847	0.655000	0.94253	CCA		0.488	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		28	240	0	0	0	1	0	28	240				
IRX2	153572	broad.mit.edu	37	5	2749024	2749024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749024G>A	ENST00000382611.6	-	3	1046	c.798C>T	c.(796-798)gaC>gaT	p.D266D	IRX2_ENST00000302057.5_Silent_p.D266D|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	266					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTCGTCCTCGTCGTCCTCCA	0.726																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(796-798)gaC>gaT		iroquois homeobox 2							17.0	17.0	17.0					5																	2749024		2189	4276	6465	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749024G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.798C>T	5.37:g.2749024G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D266D	p.D266D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1046	-			266					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.798C>T	CCDS3868.1																																																																																				0.726	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			22	131	0	0	0	1	0	22	131				
ENTPD6	955	broad.mit.edu	37	20	25205907	25205907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205907G>T	ENST00000376652.4	+	14	1473	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	ENTPD6_ENST00000360031.2_Missense_Mutation_p.S436I|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	437					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						ACCTACGTCAGCCTGCTACTC	0.607																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1306-1308)aGc>aTc		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							117.0	82.0	94.0					20																	25205907		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25205907G>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1310G>T	20.37:g.25205907G>T	ENSP00000365840:p.Ser437Ile					ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I|ENTPD6_ENST00000376652.4_Missense_Mutation_p.S437I|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H	p.S436I	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			14	1489	+			437					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1307G>T	CCDS13170.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.619|6.619|6.619	0.482540|0.482540|0.482540	0.12581|0.12581|0.12581	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000376641;ENST00000433259|ENST00000354989;ENST00000360031;ENST00000376652	.|T|T;T;T	.|0.19394|0.13778	.|2.15|2.56;2.56;2.56	5.76|5.76|5.76	3.79|3.79|3.79	0.43588|0.43588|0.43588	.|.|.	.|.|0.144262	.|.|0.64402	.|.|D	.|.|0.000006	T|T|T	0.10594|0.10594|0.10594	0.0259|0.0259|0.0259	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B|B;B;B;B	.|0.06786|0.31026	.|0.001;0.001;0.001|0.304;0.023;0.107;0.107	.|B;B;B|B;B;B;B	.|0.06405|0.30029	.|0.001;0.002;0.002|0.11;0.056;0.104;0.104	T|T|T	0.19745|0.19745|0.19745	-1.0296|-1.0296|-1.0296	5|9|10	.|0.72032|0.66056	.|D|D	.|0.01|0.02	-25.0532|-25.0532|-25.0532	8.7005|8.7005|8.7005	0.34323|0.34323|0.34323	0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0	.|.|.	.|433;451;417|185;420;436;437	.|B4DDM7;B4DNK6;Q5QPI9|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.|.;.;.;ENTP6_HUMAN	S|H|I	296;275|347;417|420;436;437	.|ENSP00000401895:Q417H|ENSP00000347084:S420I;ENSP00000353131:S436I;ENSP00000365840:S437I	.|ENSP00000365828:Q347H|ENSP00000347084:S420I	A|Q|S	+|+|+	1|3|2	0|2|0	ENTPD6|ENTPD6|ENTPD6	25153907|25153907|25153907	0.975000|0.975000|0.975000	0.34042|0.34042|0.34042	0.073000|0.073000|0.073000	0.20177|0.20177|0.20177	0.005000|0.005000|0.005000	0.04900|0.04900|0.04900	1.662000|1.662000|1.662000	0.37418|0.37418|0.37418	1.423000|1.423000|1.423000	0.47198|0.47198|0.47198	-0.257000|-0.257000|-0.257000	0.10917|0.10917|0.10917	GCC|CAG|AGC		0.607	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			18	125	1	0	1.33834e-09	1	1.40959e-09	18	125				
WDR62	284403	broad.mit.edu	37	19	36590347	36590347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36590347G>A	ENST00000270301.7	+	22	2567	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	WDR62_ENST00000401500.2_Missense_Mutation_p.R856H			O43379	WDR62_HUMAN	WD repeat domain 62	856					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGCCAAGCGCAGCTACCAG	0.622																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2566-2568)cGc>cAc		WD repeat domain 62							35.0	33.0	34.0					19																	36590347		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36590347G>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2567G>A	19.37:g.36590347G>A	ENSP00000270301:p.Arg856His					WDR62_ENST00000270301.7_Missense_Mutation_p.R856H	p.R856H	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		22	2602	+	Esophageal squamous(110;0.162)		856					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2567G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994775	0.54041	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.47177	0.85;0.85	5.31	3.19	0.36642	.	0.319061	0.27223	N	0.020349	T	0.40040	0.1101	M	0.67953	2.075	0.80722	D	1	B;B	0.32893	0.389;0.175	B;B	0.27796	0.083;0.023	T	0.33574	-0.9863	10	0.42905	T	0.14	-17.2774	7.2465	0.26125	0.1954:0.0:0.8046:0.0	.	856;856	O43379-4;O43379	.;WDR62_HUMAN	H	856	ENSP00000384792:R856H;ENSP00000270301:R856H	ENSP00000270301:R856H	R	+	2	0	WDR62	41282187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.029000	0.41098	1.243000	0.43853	0.655000	0.94253	CGC		0.622	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		61	298	0	0	0	1	0	61	298				
MED13L	23389	broad.mit.edu	37	12	116410035	116410035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116410035C>T	ENST00000281928.3	-	26	5944	c.5738G>A	c.(5737-5739)aGt>aAt	p.S1913N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1913						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGAGGATACTCCAATCTGA	0.418																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5737-5739)aGt>aAt		mediator complex subunit 13-like							96.0	90.0	92.0					12																	116410035		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116410035C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5738G>A	12.37:g.116410035C>T	ENSP00000281928:p.Ser1913Asn						p.S1913N	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	26	5944	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1913					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5738G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879851	0.91740	.	.	ENSG00000123066	ENST00000281928	D	0.83755	-1.76	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.91573	0.5273	10	0.66056	D	0.02	-12.2036	18.3134	0.90208	0.0:1.0:0.0:0.0	.	1913	Q71F56	MD13L_HUMAN	N	1913	ENSP00000281928:S1913N	ENSP00000281928:S1913N	S	-	2	0	MED13L	114894418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.631000	0.89168	0.563000	0.77884	AGT		0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			65	292	0	0	0	1	0	65	292				
EPHA2	1969	broad.mit.edu	37	1	16460967	16460967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16460967G>A	ENST00000358432.5	-	8	1832	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	560					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACGAACCTGCGGTGGATAAAG	0.607																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1678-1680)Cgc>Tgc		EPH receptor A2	Dasatinib(DB01254)						64.0	56.0	59.0					1																	16460967		2202	4300	6502	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16460967G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1678C>T	1.37:g.16460967G>A	ENSP00000351209:p.Arg560Cys						p.R560C	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	8	1832	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	560					B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1678C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249744	0.59212	.	.	ENSG00000142627	ENST00000358432	T	0.13538	2.58	5.52	5.52	0.82312	.	0.167176	0.30118	N	0.010366	T	0.24470	0.0593	M	0.88241	2.94	0.54753	D	0.999983	D	0.56287	0.975	B	0.39876	0.312	T	0.31110	-0.9955	10	0.87932	D	0	.	15.0049	0.71504	0.0:0.0:1.0:0.0	.	560	P29317	EPHA2_HUMAN	C	560	ENSP00000351209:R560C	ENSP00000351209:R560C	R	-	1	0	EPHA2	16333554	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	1.174000	0.31932	2.604000	0.88044	0.650000	0.86243	CGC		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		32	134	0	0	0	1	0	32	134				
KIAA1549	57670	broad.mit.edu	37	7	138529190	138529190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529190G>A	ENST00000422774.1	-	18	5372	c.5324C>T	c.(5323-5325)tCt>tTt	p.S1775F	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S1775F			Q9HCM3	K1549_HUMAN	KIAA1549	1775						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCTCTGTAGACTGCAGCAA	0.617			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5323-5325)tCt>tTt		KIAA1549							18.0	22.0	20.0					7																	138529190		2013	4164	6177	SO:0001583	missense	57670					integral to membrane		g.chr7:138529190G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5324C>T	7.37:g.138529190G>A	ENSP00000416040:p.Ser1775Phe					KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1775F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F	p.S1775F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			18	5372	-			1775					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5324C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837312	0.71373	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.30448	1.61;1.62;1.53	4.87	4.87	0.63330	.	0.380247	0.28577	N	0.014859	T	0.51143	0.1657	L	0.56769	1.78	0.46437	D	0.999045	D;P;D;P	0.67145	0.994;0.514;0.996;0.514	P;B;D;B	0.65874	0.87;0.351;0.939;0.351	T	0.53272	-0.8462	10	0.87932	D	0	.	16.7673	0.85527	0.0:0.0:1.0:0.0	.	1775;559;1775;559	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	F	1775;1725;1775	ENSP00000406661:S1775F;ENSP00000242365:S1725F;ENSP00000416040:S1775F	ENSP00000242365:S1725F	S	-	2	0	KIAA1549	138179730	1.000000	0.71417	0.859000	0.33776	0.484000	0.33280	7.599000	0.82757	2.558000	0.86282	0.650000	0.86243	TCT		0.617	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			16	84	0	0	0	1	0	16	84				
PRDM13	59336	broad.mit.edu	37	6	100055036	100055036	+	Silent	SNP	G	G	A	rs201201921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100055036G>A	ENST00000369215.4	+	1	431	c.126G>A	c.(124-126)gaG>gaA	p.E42E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	42	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACCGCAGGGAGCCCGGGCCTA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		16071	0.0		0.001	False		,,,				2504	0.0					ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(124-126)gaG>gaA		PR domain containing 13							47.0	56.0	53.0					6																	100055036		2019	4188	6207	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100055036G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.126G>A	6.37:g.100055036G>A						PRDM13_ENST00000369215.4_Silent_p.E42E	p.E42E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	1	387	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	42			SET.		Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.126G>A	CCDS43487.1																																																																																				0.622	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			61	353	0	0	0	1	0	61	353				
RSBN1	54665	broad.mit.edu	37	1	114340180	114340180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114340180C>T	ENST00000261441.5	-	2	1245	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	394						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		aagcaagaAACTCCTCAGAAA	0.428																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1180-1182)gaG>gaA		round spermatid basic protein 1							41.0	39.0	40.0					1																	114340180		2203	4299	6502	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114340180C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1182G>A	1.37:g.114340180C>T							p.E394E	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1245	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	394					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.1182G>A	CCDS862.1																																																																																				0.428	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		13	96	0	0	0	1	0	13	96				
VPS37C	55048	broad.mit.edu	37	11	60899816	60899816	+	Missense_Mutation	SNP	C	C	T	rs556654929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60899816C>T	ENST00000301765.5	-	5	776	c.544G>A	c.(544-546)Gtc>Atc	p.V182I		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	182	Pro-rich.		V -> D (in dbSNP:rs2232142). {ECO:0000269|PubMed:17974005}.		endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCCTGGGGGACTGGGCGCACC	0.672																																						ENST00000301765.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(544-546)Gtc>Atc		vacuolar protein sorting 37 homolog C (S. cerevisiae)							17.0	20.0	19.0					11																	60899816		2197	4292	6489	SO:0001583	missense	55048				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr11:60899816C>T	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.544G>A	11.37:g.60899816C>T	ENSP00000301765:p.Val182Ile						p.V182I	NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN			5	776	-			182		V -> D (in dbSNP:rs2232142).	Pro-rich.		Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	c.544G>A	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165403	0.06461	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.42131	0.98	4.71	1.78	0.24846	.	1.707430	0.03070	N	0.156996	T	0.29588	0.0738	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.15752	-1.0426	10	0.20519	T	0.43	2.7763	8.3183	0.32113	0.0:0.754:0.0:0.246	.	182	A5D8V6	VP37C_HUMAN	I	182	ENSP00000301765:V182I	ENSP00000301765:V182I	V	-	1	0	VPS37C	60656392	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.810000	0.04505	0.979000	0.38497	0.462000	0.41574	GTC		0.672	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		12	70	0	0	0	1	0	12	70				
ITPRIP	85450	broad.mit.edu	37	10	106075278	106075278	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075278G>T	ENST00000337478.1	-	2	703	c.532C>A	c.(532-534)Ctc>Atc	p.L178I	ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I|ITPRIP_ENST00000278071.2_Missense_Mutation_p.L178I|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	178						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTTGCAGAGGCTCCTCAGG	0.612																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(532-534)Ctc>Atc		inositol 1,4,5-trisphosphate receptor interacting protein							68.0	73.0	71.0					10																	106075278		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075278G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.532C>A	10.37:g.106075278G>T	ENSP00000337178:p.Leu178Ile					ITPRIP_ENST00000337478.1_Missense_Mutation_p.L178I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I	p.L178I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	984	-			178					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.532C>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	7.718	0.696517	0.15106	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23348	1.91;1.91;1.91	5.68	2.58	0.30949	.	0.274312	0.34200	N	0.004168	T	0.13329	0.0323	N	0.17082	0.46	0.23243	N	0.998052	B	0.06786	0.001	B	0.04013	0.001	T	0.20371	-1.0277	10	0.29301	T	0.29	-20.4168	7.24	0.26092	0.0:0.3762:0.3913:0.2325	.	178	Q8IWB1	IPRI_HUMAN	I	178	ENSP00000337178:L178I;ENSP00000278071:L178I;ENSP00000350915:L178I	ENSP00000278071:L178I	L	-	1	0	ITPRIP	106065268	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.223000	0.42936	0.669000	0.31146	0.563000	0.77884	CTC		0.612	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		81	416	1	0	1.3515e-34	1	1.60831e-34	81	416				
ABCB1	5243	broad.mit.edu	37	7	87195518	87195518	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87195518A>C	ENST00000265724.3	-	8	987	c.570T>G	c.(568-570)atT>atG	p.I190M	ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	190	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGAACATTCCAATTTTGTCAC	0.368																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(568-570)atT>atG		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						146.0	136.0	140.0					7																	87195518		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87195518A>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.570T>G	7.37:g.87195518A>C	ENSP00000265724:p.Ile190Met					ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	p.I190M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			8	987	-	Esophageal squamous(14;0.00164)		190			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.570T>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985152	0.35036	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.91068	-2.78;-2.78	5.86	-2.1	0.07210	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.151959	0.64402	D	0.000017	D	0.90215	0.6941	L	0.39245	1.2	0.38962	D	0.958578	B;B	0.30211	0.273;0.198	B;P	0.54499	0.356;0.754	T	0.82559	-0.0397	10	0.35671	T	0.21	-10.6385	7.6401	0.28288	0.4865:0.1195:0.3941:0.0	.	126;190	B5AK60;P08183	.;MDR1_HUMAN	M	190;126	ENSP00000265724:I190M;ENSP00000444095:I126M	ENSP00000265724:I190M	I	-	3	3	ABCB1	87033454	0.981000	0.34729	0.992000	0.48379	0.990000	0.78478	0.350000	0.20079	-0.349000	0.08274	-0.290000	0.09829	ATT		0.368	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		86	404	0	0	0	1	0	86	404				
MUC16	94025	broad.mit.edu	37	19	9058483	9058483	+	Missense_Mutation	SNP	T	T	C	rs182912100		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9058483T>C	ENST00000397910.4	-	3	29166	c.28963A>G	c.(28963-28965)Aca>Gca	p.T9655A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9657	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T5288A(1)|p.T9655A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGATTCTGTCATGATGGGA	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		23101	0.001		0.0	False		,,,				2504	0.0					ENST00000397910.4																			2	Substitution - Missense(2)	p.T5288A(1)|p.T9655A(1)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28963-28965)Aca>Gca		mucin 16, cell surface associated							173.0	152.0	159.0					19																	9058483		2003	4169	6172	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058483T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28963A>G	19.37:g.9058483T>C	ENSP00000381008:p.Thr9655Ala						p.T9655A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29166	-			9657			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28963A>G	CCDS54212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	t	3.411	-0.120141	0.06838	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.87	-5.75	0.02384	.	.	.	.	.	T	0.01254	0.0041	N	0.12746	0.255	.	.	.	B	0.16603	0.018	B	0.12837	0.008	T	0.47315	-0.9127	8	0.87932	D	0	.	2.8337	0.05507	0.1338:0.4125:0.2706:0.183	.	9655	B5ME49	.	A	9655	ENSP00000381008:T9655A	ENSP00000381008:T9655A	T	-	1	0	MUC16	8919483	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.607000	0.05648	-2.430000	0.00557	-0.710000	0.03640	ACA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		80	280	0	0	0	1	0	80	280				
MYF5	4617	broad.mit.edu	37	12	81111216	81111216	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111216G>A	ENST00000228644.3	+	1	526	c.374G>A	c.(373-375)aGg>aAg	p.R125K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAGATCCTCAGGAATGCCATC	0.597																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(373-375)aGg>aAg		myogenic factor 5							86.0	84.0	84.0					12																	81111216		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111216G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.374G>A	12.37:g.81111216G>A	ENSP00000228644:p.Arg125Lys						p.R125K	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	526	+			125			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.374G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556658	0.96514	.	.	ENSG00000111049	ENST00000228644	D	0.98105	-4.72	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	L	0.56280	1.765	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	D	0.98797	1.0738	10	0.66056	D	0.02	-8.8803	20.6208	0.99490	0.0:0.0:1.0:0.0	.	125	P13349	MYF5_HUMAN	K	125	ENSP00000228644:R125K	ENSP00000228644:R125K	R	+	2	0	MYF5	79635347	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.416000	0.97383	2.882000	0.98803	0.655000	0.94253	AGG		0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		119	528	0	0	0	1	0	119	528				
TECPR1	25851	broad.mit.edu	37	7	97858364	97858364	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97858364G>A	ENST00000447648.2	-	16	2696	c.2397C>T	c.(2395-2397)ggC>ggT	p.G799G	TECPR1_ENST00000379795.3_Silent_p.G800G|TECPR1_ENST00000542604.1_Silent_p.G729G|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	799					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAAGCAGCCGCCTCCATAGC	0.687																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2395-2397)ggC>ggT		tectonin beta-propeller repeat containing 1							14.0	18.0	17.0					7																	97858364		1927	4104	6031	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97858364G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2397C>T	7.37:g.97858364G>A						TECPR1_ENST00000379795.3_Silent_p.G800G|TECPR1_ENST00000542604.1_Silent_p.G729G	p.G799G			Q7Z6L1	TCPR1_HUMAN			16	2696	-			799					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.2397C>T	CCDS47648.1																																																																																				0.687	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		6	46	0	0	0	1	0	6	46				
PCDHGA5	56110	broad.mit.edu	37	5	140746123	140746123	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140746123C>T	ENST00000518069.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	742					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGATGGGG	0.627																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(2224-2226)ggC>ggT									80.0	90.0	86.0					5																	140746123		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140746123C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2226C>T	5.37:g.140746123C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.G742G	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2226	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.2226C>T	CCDS54925.1																																																																																				0.627	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		168	637	0	0	0	1	0	168	637				
ARHGEF16	27237	broad.mit.edu	37	1	3394527	3394527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3394527C>T	ENST00000378378.4	+	11	1967	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	521	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAAAATTGCCAGCCGGCCA	0.577																																						ENST00000378378.4																			0				lung(6)|ovary(1)	7						c.(1561-1563)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 16							99.0	101.0	101.0					1																	3394527		2191	4290	6481	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3394527C>T	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1562C>T	1.37:g.3394527C>T	ENSP00000367629:p.Ala521Val					ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V	p.A521V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1967	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	521			PH.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1562C>T	CCDS46.2	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705645	0.15172	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.58	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.418477	0.26859	N	0.022136	T	0.67581	0.2908	L	0.50333	1.59	0.32814	D	0.501823	B;B	0.29805	0.257;0.257	B;B	0.36030	0.216;0.216	T	0.67031	-0.5773	10	0.13470	T	0.59	-18.3756	9.7142	0.40265	0.0:0.7839:0.1422:0.0738	.	225;521	B4DJM7;Q5VV41	.;ARHGG_HUMAN	V	521;233;233;225	ENSP00000367629:A521V;ENSP00000367624:A233V;ENSP00000367622:A233V;ENSP00000408887:A225V	ENSP00000367622:A233V	A	+	2	0	ARHGEF16	3384387	0.969000	0.33509	0.568000	0.28447	0.145000	0.21501	2.238000	0.43070	1.294000	0.44707	0.555000	0.69702	GCC		0.577	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		41	474	0	0	0	1	0	41	474				
MLLT4	4301	broad.mit.edu	37	6	168226615	168226615	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168226615G>A	ENST00000447894.2	+	0	0				MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000392112.1_5'Flank|MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000400822.3_5'Flank|MLLT4_ENST00000392108.3_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTTAGACCCAGCACCACCCGT	0.711			T	MLL	AL																																	ENST00000359760.5				Dom	yes		6	6q27	4301		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L					0																				76.0	99.0	91.0					6																	168226615		2022	4139	6161	SO:0001631	upstream_gene_variant	0							g.chr6:168226615G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168226615G>A	Exception_encountered							NR_027906.1						0	774	-								O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	ENST00000447894.2	37																																																																																						0.711	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		201	931	0	0	0	1	0	201	931				
KIDINS220	57498	broad.mit.edu	37	2	8910878	8910878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8910878C>T	ENST00000256707.3	-	22	3114	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	978					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATGAAGTCCGGTATGGCCA	0.398																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(2932-2934)cGg>cAg		kinase D-interacting substrate, 220kDa							90.0	90.0	90.0					2																	8910878		1881	4116	5997	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8910878C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2933G>A	2.37:g.8910878C>T	ENSP00000256707:p.Arg978Gln					KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q	p.R978Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			22	3114	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		978					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.2933G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436799	0.96168	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.80566	-0.31;-1.39;-1.32;-1.17;-1.32;-1.32;-1.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.91635	0.921;0.999;0.999;0.997	D	0.92224	0.5787	10	0.87932	D	0	.	19.2476	0.93908	0.0:1.0:0.0:0.0	.	979;979;936;978	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Q	725;662;978;978;936;978;979;979	ENSP00000420364:R725Q;ENSP00000256707:R978Q;ENSP00000411849:R978Q;ENSP00000414923:R936Q;ENSP00000418974:R978Q;ENSP00000419964:R979Q;ENSP00000319947:R979Q	ENSP00000256707:R978Q	R	-	2	0	KIDINS220	8828329	1.000000	0.71417	0.814000	0.32528	0.955000	0.61496	7.334000	0.79224	2.531000	0.85337	0.467000	0.42956	CGG		0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		100	245	0	0	0	1	0	100	245				
CPS1	1373	broad.mit.edu	37	2	211521337	211521337	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211521337G>A	ENST00000233072.5	+	30	3843	c.3647G>A	c.(3646-3648)aGc>aAc	p.S1216N	CPS1_ENST00000451903.2_Missense_Mutation_p.S765N|CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1216	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAAACCATCAGCCAAGGGGCC	0.408																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(3646-3648)aGc>aAc		carbamoyl-phosphate synthase 1, mitochondrial							66.0	67.0	67.0					2																	211521337		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211521337G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3647G>A	2.37:g.211521337G>A	ENSP00000233072:p.Ser1216Asn					CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N|CPS1_ENST00000451903.2_Missense_Mutation_p.S765N	p.S1216N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	30	3843	+			1216			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3647G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380057	0.24944	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97161	-4.27;-4.27;-4.27	6.08	6.08	0.98989	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.63843	1.955	0.58432	D	0.999998	P;P	0.37141	0.584;0.584	B;B	0.39971	0.315;0.315	D	0.93651	0.6973	10	0.02654	T	1	-10.9857	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1226;1216	Q59HF8;P31327	.;CPSM_HUMAN	N	1222;1224;1216;765	ENSP00000402608:S1222N;ENSP00000233072:S1216N;ENSP00000406136:S765N	ENSP00000233072:S1216N	S	+	2	0	CPS1	211229582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.894000	0.99253	0.655000	0.94253	AGC		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			81	228	0	0	0	1	0	81	228				
LPHN2	23266	broad.mit.edu	37	1	82452608	82452608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82452608A>G	ENST00000370728.1	+	24	4165	c.3520A>G	c.(3520-3522)Aca>Gca	p.T1174A	LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1189A|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1189A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T1099A			O95490	LPHN2_HUMAN	latrophilin 2	1174					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCTACTAACAAACCCTCT	0.373																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3520-3522)Aca>Gca		latrophilin 2							101.0	99.0	100.0					1																	82452608		876	1991	2867	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82452608A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3520A>G	1.37:g.82452608A>G	ENSP00000359763:p.Thr1174Ala					LPHN2_ENST00000370725.1_Missense_Mutation_p.T1189A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T1099A|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1189A|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370727.1_Intron	p.T1174A			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	24	4165	+			1174					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3520A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.67|14.67	2.604319|2.604319	0.46423|0.46423	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370725;ENST00000370723;ENST00000370717;ENST00000394879	.|T;T;T;T;T;T	.|0.71698	.|-0.58;-0.59;-0.56;-0.52;-0.56;-0.52	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77260|0.77260	0.4104|0.4104	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.80327|0.80327	-0.1429|-0.1429	4|7	.|0.62326	.|D	.|0.03	.|.	15.9173|15.9173	0.79531|0.79531	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	S|A	179|1099;1174;1189;1176;1189;1176	.|ENSP00000359756:T1099A;ENSP00000359763:T1174A;ENSP00000359760:T1189A;ENSP00000359758:T1176A;ENSP00000359752:T1189A;ENSP00000378344:T1176A	.|ENSP00000359752:T1189A	N|T	+|+	2|1	0|0	LPHN2|LPHN2	82225196|82225196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.962000|8.962000	0.93254|0.93254	2.161000|2.161000	0.67846|0.67846	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.373	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		30	281	0	0	0	1	0	30	281				
SH2B1	25970	broad.mit.edu	37	16	28883991	28883991	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28883991T>G	ENST00000322610.8	+	10	2301	c.1862T>G	c.(1861-1863)cTt>cGt	p.L621R	SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R|SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.L621R|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	621	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GATGTTGTCCTTGTCAGCTAT	0.602																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1861-1863)cTt>cGt		SH2B adaptor protein 1							104.0	89.0	94.0					16																	28883991		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883991T>G	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1862T>G	16.37:g.28883991T>G	ENSP00000321221:p.Leu621Arg					SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.L621R|SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R	p.L621R	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			7	5153	+			621			SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1862T>G	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	t	19.48	3.835100	0.71373	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.1	5.1	0.69264	SH2 motif (1);	0.000000	0.64402	D	0.000007	D	0.98994	0.9657	M	0.89214	3.015	0.58432	D	0.999992	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;0.999;1.0;1.0;0.999	D	0.99694	1.1002	10	0.87932	D	0	-12.0959	13.8724	0.63626	0.0:0.0:0.0:1.0	.	285;311;621;621;621	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	R	621;311;621;285;621;621	ENSP00000321221:L621R;ENSP00000440354:L311R;ENSP00000352232:L621R;ENSP00000438784:L285R;ENSP00000378903:L621R;ENSP00000337163:L621R	ENSP00000321221:L621R	L	+	2	0	SH2B1	28791492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.370000	0.79589	1.915000	0.55452	0.456000	0.33151	CTT		0.602	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		16	315	0	0	0	1	0	16	315				
LRRC52	440699	broad.mit.edu	37	1	165513649	165513649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165513649G>A	ENST00000294818.1	+	1	406	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	39	LRRNT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAAGTAATCTGCACAGGGAAG	0.502																																						ENST00000294818.1																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(115-117)tGc>tAc		leucine rich repeat containing 52							116.0	116.0	116.0					1																	165513649		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165513649G>A	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.116G>A	1.37:g.165513649G>A	ENSP00000294818:p.Cys39Tyr					RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	p.C39Y	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN			1	406	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		39			LRRNT.		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.116G>A	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995109	0.54041	.	.	ENSG00000162763	ENST00000294818	D	0.99985	-11.65	4.91	4.91	0.64330	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99988	0.9998	H	0.95043	3.615	0.34146	D	0.667017	D	0.89917	1.0	D	0.97110	1.0	D	0.99976	1.2192	9	0.87932	D	0	.	15.6557	0.77133	0.0:0.0:1.0:0.0	.	39	Q8N7C0	LRC52_HUMAN	Y	39	ENSP00000294818:C39Y	ENSP00000294818:C39Y	C	+	2	0	LRRC52	163780273	1.000000	0.71417	0.919000	0.36401	0.422000	0.31414	8.837000	0.92110	2.561000	0.86390	0.563000	0.77884	TGC		0.502	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		46	632	0	0	0	1	0	46	632				
OSR2	116039	broad.mit.edu	37	8	99961621	99961621	+	Silent	SNP	C	C	A	rs368868923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99961621C>A	ENST00000297565.4	+	2	937	c.441C>A	c.(439-441)atC>atA	p.I147I	OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000523368.1_Silent_p.I147I|OSR2_ENST00000435298.2_Silent_p.I147I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	147					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GTAGCCCCATCTCGGGCCTCA	0.542																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(439-441)atC>atA		odd-skipped related transciption factor 2		C	,	1,3861		0,1,1930	102.0	111.0	108.0		441,441	1.5	1.0	8		108	0,8280		0,0,4140	no	coding-synonymous,coding-synonymous	OSR2	NM_001142462.1,NM_053001.2	,	0,1,6070	AA,AC,CC		0.0,0.0259,0.0082	,	147/313,147/277	99961621	1,12141	1931	4140	6071	SO:0001819	synonymous_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961621C>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.441C>A	8.37:g.99961621C>A						OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000523368.1_Silent_p.I147I|OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000435298.2_Silent_p.I147I	p.I147I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	937	+	Breast(36;4.14e-07)		147					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	37	c.441C>A	CCDS47901.1																																																																																				0.542	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		31	855	1	0	1.75199e-13	1	1.89187e-13	31	855				
TNRC6B	23112	broad.mit.edu	37	22	40661292	40661292	+	Missense_Mutation	SNP	C	C	T	rs375322900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40661292C>T	ENST00000454349.2	+	5	1269	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.A353V|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	353	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ATGGAAAATGCGGGTGTTAAT	0.418																																						ENST00000454349.2																			0				breast(1)	1						c.(1057-1059)gCg>gTg		trinucleotide repeat containing 6B		C	,VAL/ALA,VAL/ALA	1,3833		0,1,1916	69.0	68.0	69.0		,1058,1058	5.1	1.0	22		69	2,8264		0,2,4131	no	intron,missense,missense	TNRC6B	NM_001024843.1,NM_001162501.1,NM_015088.2	,64,64	0,3,6047	TT,TC,CC		0.0242,0.0261,0.0248	,probably-damaging,probably-damaging	,353/1834,353/1724	40661292	3,12097	1917	4133	6050	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661292C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1058C>T	22.37:g.40661292C>T	ENSP00000401946:p.Ala353Val					TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.A353V|TNRC6B_ENST00000402203.1_Intron	p.A353V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	1269	+			353					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.1058C>T	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.076522|2.076522	0.36662|0.36662	2.61E-4|2.61E-4	2.42E-4|2.42E-4	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.56611|.	0.45;0.45|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.118257|.	0.56097|.	D|.	0.000022|.	T|T	0.56702|0.56702	0.2003|0.2003	L|L	0.29908|0.29908	0.895|0.895	0.37338|0.37338	D|D	0.910273|0.910273	D;P;P|.	0.56968|.	0.978;0.702;0.883|.	B;B;B|.	0.40534|.	0.332;0.073;0.152|.	T|T	0.58418|0.58418	-0.7640|-0.7640	10|5	0.62326|.	D|.	0.03|.	-3.7136|-3.7136	17.4699|17.4699	0.87643|0.87643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	353;353;353|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	V|W	353|96	ENSP00000401946:A353V;ENSP00000338371:A353V|.	ENSP00000338371:A353V|.	A|R	+|+	2|1	0|2	TNRC6B|TNRC6B	38991238|38991238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.997000|1.997000	0.40786|0.40786	2.369000|2.369000	0.80426|0.80426	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.418	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				14	335	0	0	0	1	0	14	335				
INTS8	55656	broad.mit.edu	37	8	95871751	95871751	+	Missense_Mutation	SNP	G	G	A	rs375337415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95871751G>A	ENST00000523731.1	+	16	2100	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.R656H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	656					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)					ATTCCTCTTCGTCAAGTTATA	0.343																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1966-1968)cGt>cAt		integrator complex subunit 8		G	HIS/ARG	0,4406		0,0,2203	160.0	145.0	150.0		1967	5.8	1.0	8		150	1,8597	1.2+/-3.3	0,1,4298	no	missense	INTS8	NM_017864.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	656/996	95871751	1,13003	2203	4299	6502	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95871751G>A	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.1967G>A	8.37:g.95871751G>A	ENSP00000430338:p.Arg656His					INTS8_ENST00000447247.1_Missense_Mutation_p.R656H|INTS8_ENST00000520845.1_3'UTR	p.R656H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			16	2100	+	Breast(36;1.05e-06)		656					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1967G>A	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.179313|5.179313	0.94846|0.94846	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75946|0.75946	0.3919|0.3919	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.73052|0.73052	-0.4104|-0.4104	9|5	0.87932|.	D|.	0|.	-0.2176|-0.2176	20.0175|20.0175	0.97485|0.97485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;656|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	H|I	656|478	.|.	ENSP00000343274:R656H|.	R|V	+|+	2|1	0|0	INTS8|INTS8	95940927|95940927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.230000|9.230000	0.95299|0.95299	2.730000|2.730000	0.93505|0.93505	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.343	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		40	211	0	0	0	1	0	40	211				
FAM129C	199786	broad.mit.edu	37	19	17648286	17648286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17648286G>T	ENST00000335393.4	+	6	760	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000449408.2_5'UTR	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	208										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTTCTCTGCAGCCACCAGGGA	0.632																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(622-624)Gcc>Tcc		family with sequence similarity 129, member C							61.0	62.0	62.0					19																	17648286		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17648286G>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.622G>T	19.37:g.17648286G>T	ENSP00000335040:p.Ala208Ser					FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S	p.A208S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			6	760	+			208					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.622G>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	g	10.32	1.318922	0.23994	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.42	-2.15	0.07102	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.776011	0.11182	N	0.590881	T	0.12774	0.0310	M	0.65975	2.015	0.09310	N	0.999998	P;B	0.48294	0.908;0.4	B;B	0.39660	0.306;0.121	T	0.30001	-0.9993	10	0.10902	T	0.67	-2.8879	4.3847	0.11311	0.2913:0.3137:0.3951:0.0	.	208;208	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	S	208;208;208;208;154	ENSP00000335040:A208S;ENSP00000333447:A208S;ENSP00000341067:A208S;ENSP00000300971:A208S	ENSP00000300971:A208S	A	+	1	0	FAM129C	17509286	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	-0.304000	0.08199	-0.599000	0.05798	-0.359000	0.07587	GCC		0.632	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		104	411	1	0	1.66795e-42	1	2.03135e-42	104	411				
TRAF5	7188	broad.mit.edu	37	1	211545602	211545602	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211545602C>T	ENST00000261464.5	+	11	1286	c.1232C>T	c.(1231-1233)aCa>aTa	p.T411I	TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I|TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I|TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	411	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGAAGGTGACAGATTACAAG	0.468																																						ENST00000261464.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1231-1233)aCa>aTa		TNF receptor-associated factor 5							125.0	133.0	130.0					1																	211545602		2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211545602C>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1232C>T	1.37:g.211545602C>T	ENSP00000261464:p.Thr411Ile					TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I|TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I|TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I	p.T411I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	11	1286	+			411			MATH.		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.1232C>T	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367647	0.42003	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.37584	2.05;1.19;2.05;2.05	5.16	5.16	0.70880	TRAF-type (1);TRAF-like (1);MATH (2);	0.299246	0.36703	N	0.002445	T	0.42607	0.1210	M	0.76170	2.325	0.34214	D	0.674685	P;B;P	0.48294	0.908;0.437;0.698	B;B;B	0.44224	0.436;0.3;0.444	T	0.60525	-0.7246	10	0.39692	T	0.17	-19.4905	13.3653	0.60680	0.0:0.924:0.0:0.076	.	305;422;411	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	411;305;411;411	ENSP00000336825:T411I;ENSP00000389891:T305I;ENSP00000261464:T411I;ENSP00000355971:T411I	ENSP00000261464:T411I	T	+	2	0	TRAF5	209612225	0.884000	0.30299	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	2.561000	0.86390	0.650000	0.86243	ACA		0.468	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		271	730	0	0	0	1	0	271	730				
FOXP1	27086	broad.mit.edu	37	3	71008431	71008431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71008431G>A	ENST00000318789.4	-	21	2526	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	FOXP1_ENST00000475937.1_Silent_p.Y667Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y|FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	667					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTCATCTTCGTAATCTCTGT	0.478			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1999-2001)taC>taT		forkhead box P1							203.0	181.0	188.0					3																	71008431		2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71008431G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.2001C>T	3.37:g.71008431G>A						FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000475937.1_Silent_p.Y667Y	p.Y667Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	21	2526	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	667					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.2001C>T	CCDS2914.1																																																																																				0.478	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		99	511	0	0	0	1	0	99	511				
TMEM109	79073	broad.mit.edu	37	11	60689496	60689496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60689496C>T	ENST00000227525.3	+	4	994	c.591C>T	c.(589-591)gcC>gcT	p.A197A	TMEM132A_ENST00000453848.2_5'Flank|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Silent_p.A197A|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	197					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TCCTCTACGCCCTGCTGAGCC	0.677																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(589-591)gcC>gcT		transmembrane protein 109							41.0	44.0	43.0					11																	60689496		2203	4298	6501	SO:0001819	synonymous_variant	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60689496C>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.591C>T	11.37:g.60689496C>T						TMEM109_ENST00000536171.1_Silent_p.A197A|RP11-881M11.4_ENST00000543907.1_RNA	p.A197A	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN			4	994	+			197						Silent	SNP	ENST00000227525.3	37	c.591C>T	CCDS7996.1																																																																																				0.677	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		65	336	0	0	0	1	0	65	336				
BTNL9	153579	broad.mit.edu	37	5	180475061	180475061	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180475061G>A	ENST00000327705.9	+	3	475	c.244G>A	c.(244-246)Gtg>Atg	p.V82M	BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M|BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000515271.1_Missense_Mutation_p.V13M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	82	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCTTCAATGTGGTACACCT	0.617																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(244-246)Gtg>Atg		butyrophilin-like 9							65.0	56.0	59.0					5																	180475061		2203	4299	6502	SO:0001583	missense	153579					integral to membrane		g.chr5:180475061G>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.244G>A	5.37:g.180475061G>A	ENSP00000330200:p.Val82Met					BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M|BTNL9_ENST00000515271.1_Missense_Mutation_p.V13M	p.V82M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	475	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	82			Ig-like V-type.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.244G>A	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745701	0.30955	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.66460	-0.21;-0.21;-0.21;4.17	4.76	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32068	N	0.006623	T	0.77405	0.4125	M	0.84219	2.685	0.09310	N	1	D;P	0.71674	0.998;0.953	D;P	0.71870	0.975;0.873	T	0.66360	-0.5943	10	0.72032	D	0.01	.	3.9571	0.09395	0.1952:0.0:0.6167:0.1881	.	13;82	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	M	82;82;82;82;13	ENSP00000366037:V82M;ENSP00000330200:V82M;ENSP00000366038:V82M;ENSP00000427345:V13M	ENSP00000330200:V82M	V	+	1	0	BTNL9	180407667	0.038000	0.19896	0.579000	0.28588	0.001000	0.01503	0.707000	0.25704	1.314000	0.45095	0.650000	0.86243	GTG		0.617	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		47	144	0	0	0	1	0	47	144				
ABCB5	340273	broad.mit.edu	37	7	20682918	20682918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682918G>T	ENST00000404938.2	+	6	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	142	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCGAAAACAGTTTTTTCATT	0.408																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(424-426)caG>caT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							97.0	85.0	89.0					7																	20682918		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20682918G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.426G>T	7.37:g.20682918G>T	ENSP00000384881:p.Gln142His						p.Q142H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			6	1078	+			326			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.426G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291353	0.05568	.	.	ENSG00000004846	ENST00000404938	D	0.90004	-2.6	3.75	2.67	0.31697	.	.	.	.	.	T	0.73001	0.3531	N	0.12637	0.245	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.59904	-0.7366	9	0.14252	T	0.57	.	3.2368	0.06767	0.174:0.0:0.5888:0.2372	.	142	A7BKA4	.	H	142	ENSP00000384881:Q142H	ENSP00000384881:Q142H	Q	+	3	2	ABCB5	20649443	0.173000	0.23056	1.000000	0.80357	0.452000	0.32318	0.437000	0.21543	0.917000	0.36895	0.563000	0.77884	CAG		0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		33	157	1	0	9.04072e-19	1	1.00536e-18	33	157				
ACACB	32	broad.mit.edu	37	12	109644617	109644617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109644617G>A	ENST00000338432.7	+	20	3135	c.3016G>A	c.(3016-3018)Gtc>Atc	p.V1006I	ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I|ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1006					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCTCACCAACGTCATGAGTGG	0.537																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3016-3018)Gtc>Atc		acetyl-CoA carboxylase beta	Biotin(DB00121)						142.0	133.0	136.0					12																	109644617		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109644617G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3016G>A	12.37:g.109644617G>A	ENSP00000341044:p.Val1006Ile					ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I|ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I	p.V1006I			O00763	ACACB_HUMAN			20	3135	+			1006					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3016G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	1.092	-0.663712	0.03428	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.37915	1.17;1.17;1.17	5.29	0.104	0.14531	Acetyl-CoA carboxylase, central domain (1);	0.120003	0.56097	N	0.000027	T	0.11922	0.0290	N	0.02775	-0.495	0.80722	D	1	B	0.24963	0.115	B	0.24006	0.05	T	0.36407	-0.9749	10	0.02654	T	1	.	10.597	0.45343	0.4098:0.0:0.5902:0.0	.	1006	O00763	ACACB_HUMAN	I	1006;1006;1006;237	ENSP00000341044:V1006I;ENSP00000367079:V1006I;ENSP00000367085:V1006I	ENSP00000341044:V1006I	V	+	1	0	ACACB	108129000	0.102000	0.21896	0.393000	0.26258	0.632000	0.37999	0.436000	0.21526	-0.272000	0.09259	-0.136000	0.14681	GTC		0.537	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		126	523	0	0	0	1	0	126	523				
HOXB9	3219	broad.mit.edu	37	17	46703204	46703204	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46703204C>A	ENST00000311177.5	-	1	635	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HOXB9_ENST00000550387.1_Intron|HOXB-AS4_ENST00000480386.1_RNA|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	143					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GGCCTCCCTGCCCGCCGAAGT	0.602																																						ENST00000311177.5																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(427-429)gGc>gTc		homeobox B9							36.0	41.0	39.0					17																	46703204		2203	4300	6503	SO:0001583	missense	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703204C>A		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.428G>T	17.37:g.46703204C>A	ENSP00000309439:p.Gly143Val					HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_Intron	p.G143V	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN			1	635	-			143					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.428G>T	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390960	0.42410	.	.	ENSG00000170689	ENST00000311177	D	0.93712	-3.27	4.74	4.74	0.60224	Hox9, N-terminal activation domain (1);	0.123056	0.50627	D	0.000110	D	0.92645	0.7663	M	0.68952	2.095	0.80722	D	1	P	0.38048	0.616	B	0.42163	0.378	D	0.91624	0.5313	10	0.33940	T	0.23	.	13.9224	0.63940	0.0:0.7195:0.2805:0.0	.	143	P17482	HXB9_HUMAN	V	143	ENSP00000309439:G143V	ENSP00000309439:G143V	G	-	2	0	HOXB9	44058203	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.691000	0.25467	2.323000	0.78572	0.555000	0.69702	GGC		0.602	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			55	250	1	0	1.78197e-24	1	2.03739e-24	55	250				
ZNF141	7700	broad.mit.edu	37	4	367133	367133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367133C>T	ENST00000240499.7	+	4	1056	c.907C>T	c.(907-909)Cga>Tga	p.R303*	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	303					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAACATAAGCGAATTCATAC	0.378																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(907-909)Cga>Tga		zinc finger protein 141							75.0	85.0	82.0					4																	367133		2202	4299	6501	SO:0001587	stop_gained	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367133C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.907C>T	4.37:g.367133C>T	ENSP00000240499:p.Arg303*					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.R303*	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1056	+			303					Q6DK07	Nonsense_Mutation	SNP	ENST00000240499.7	37	c.907C>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219531	0.79464	.	.	ENSG00000131127	ENST00000240499	.	.	.	1.24	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1529	0.20322	0.5097:0.4902:0.0:0.0	.	.	.	.	X	303	.	.	R	+	1	2	ZNF141	357133	0.000000	0.05858	0.186000	0.23195	0.721000	0.41392	-6.005000	0.00086	-0.384000	0.07845	-0.821000	0.03111	CGA		0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		65	371	0	0	0	1	0	65	371				
GLT6D1	360203	broad.mit.edu	37	9	138517963	138517963	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138517963T>C	ENST00000371763.1	-	4	462	c.209A>G	c.(208-210)tAc>tGc	p.Y70C		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	70					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCGCCTTCTGTAATGTTTTTC	0.498																																						ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(208-210)tAc>tGc		glycosyltransferase 6 domain containing 1							81.0	85.0	83.0					9																	138517963		1896	4102	5998	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138517963T>C	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.209A>G	9.37:g.138517963T>C	ENSP00000360829:p.Tyr70Cys						p.Y70C	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	4	462	-		Myeloproliferative disorder(178;0.0821)	70						Missense_Mutation	SNP	ENST00000371763.1	37	c.209A>G	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363151	0.41902	.	.	ENSG00000204007	ENST00000371763	T	0.01871	4.59	4.18	3.0	0.34707	.	0.135912	0.34223	N	0.004144	T	0.11281	0.0275	M	0.85373	2.75	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03278	-1.1053	10	0.87932	D	0	-33.1822	7.0578	0.25109	0.3636:0.0:0.0:0.6364	.	70	Q7Z4J2	GL6D1_HUMAN	C	70	ENSP00000360829:Y70C	ENSP00000360829:Y70C	Y	-	2	0	GLT6D1	137657784	0.854000	0.29725	0.011000	0.14972	0.006000	0.05464	1.747000	0.38298	0.739000	0.32628	0.496000	0.49642	TAC		0.498	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		53	307	0	0	0	1	0	53	307				
MORC1	27136	broad.mit.edu	37	3	108778706	108778706	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108778706C>A	ENST00000483760.1	-	12	1021	c.978G>T	c.(976-978)caG>caT	p.Q326H	MORC1_ENST00000232603.5_Missense_Mutation_p.Q326H					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCAAAGCTCTCTGTAATACAT	0.353																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(976-978)caG>caT		MORC family CW-type zinc finger 1							137.0	120.0	126.0					3																	108778706		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108778706C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.978G>T	3.37:g.108778706C>A	ENSP00000417282:p.Gln326His					MORC1_ENST00000483760.1_Missense_Mutation_p.Q326H	p.Q326H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			12	1060	-			326						Missense_Mutation	SNP	ENST00000483760.1	37	c.978G>T		.	.	.	.	.	.	.	.	.	.	C	11.56	1.673784	0.29693	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06218	3.33;3.34	5.02	1.29	0.21616	.	0.730120	0.11841	N	0.524317	T	0.15132	0.0365	M	0.63428	1.95	0.27887	N	0.93948	D;D	0.67145	0.996;0.99	P;P	0.58820	0.846;0.827	T	0.10359	-1.0633	10	0.45353	T	0.12	0.2174	7.7351	0.28810	0.0:0.6924:0.0:0.3076	.	326;326	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	326	ENSP00000232603:Q326H;ENSP00000417282:Q326H	ENSP00000232603:Q326H	Q	-	3	2	MORC1	110261396	1.000000	0.71417	0.573000	0.28510	0.944000	0.59088	1.231000	0.32624	0.053000	0.16036	0.650000	0.86243	CAG		0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			28	194	1	0	4.02929e-09	1	4.23443e-09	28	194				
GLT6D1	360203	broad.mit.edu	37	9	138516299	138516299	+	Missense_Mutation	SNP	C	C	T	rs200843676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516299C>T	ENST00000371763.1	-	5	728	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	159					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.A159T(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATGTGACTGGCGATGTGTTCA	0.592																																						ENST00000371763.1																			1	Substitution - Missense(1)	p.A159T(1)	endometrium(1)	endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(475-477)Gcc>Acc		glycosyltransferase 6 domain containing 1							44.0	46.0	45.0					9																	138516299		1995	4161	6156	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516299C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.475G>A	9.37:g.138516299C>T	ENSP00000360829:p.Ala159Thr						p.A159T	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	728	-		Myeloproliferative disorder(178;0.0821)	159						Missense_Mutation	SNP	ENST00000371763.1	37	c.475G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175931	0.01646	.	.	ENSG00000204007	ENST00000371763	T	0.01246	5.11	3.49	-6.99	0.01605	.	2.131500	0.02486	N	0.088984	T	0.01421	0.0046	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43925	-0.9361	10	0.11182	T	0.66	-4.1633	6.7334	0.23395	0.1521:0.4874:0.2584:0.1022	.	159	Q7Z4J2	GL6D1_HUMAN	T	159	ENSP00000360829:A159T	ENSP00000360829:A159T	A	-	1	0	GLT6D1	137656120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.909000	0.04058	-4.466000	0.00047	-1.708000	0.00717	GCC		0.592	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		10	207	0	0	0	1	0	10	207				
ATP8B4	79895	broad.mit.edu	37	15	50339654	50339654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50339654C>T	ENST00000284509.6	-	4	236	c.95G>A	c.(94-96)cGt>cAt	p.R32H	ATP8B4_ENST00000558959.1_5'Flank|ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	32						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTGTGGATACGATTATCCTG	0.373																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(94-96)cGt>cAt		ATPase, class I, type 8B, member 4							92.0	94.0	94.0					15																	50339654		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50339654C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.95G>A	15.37:g.50339654C>T	ENSP00000284509:p.Arg32His					ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H	p.R32H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	4	236	-		all_lung(180;0.00183)	32					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.95G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056893	0.36277	.	.	ENSG00000104043	ENST00000284509	T	0.79454	-1.27	5.47	5.47	0.80525	.	0.233701	0.36519	N	0.002553	T	0.66046	0.2750	N	0.26042	0.785	0.39911	D	0.97403	B	0.15719	0.014	B	0.11329	0.006	T	0.61806	-0.6987	10	0.11485	T	0.65	.	16.8191	0.85741	0.0:1.0:0.0:0.0	.	32	Q8TF62	AT8B4_HUMAN	H	32	ENSP00000284509:R32H	ENSP00000284509:R32H	R	-	2	0	ATP8B4	48126946	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	2.569000	0.86673	0.591000	0.81541	CGT		0.373	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		98	143	0	0	0	1	0	98	143				
FOLR3	2352	broad.mit.edu	37	11	71850826	71850826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850826C>T	ENST00000445078.2	+	5	880	c.809C>T	c.(808-810)gCt>gTt	p.A270V	FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V|FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	228					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGTTCTATGCTGCGGCCATG	0.532																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(808-810)gCt>gTt		folate receptor 3 (gamma)	Folic Acid(DB00158)						37.0	39.0	38.0					11																	71850826		2199	4293	6492	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850826C>T	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.809C>T	11.37:g.71850826C>T	ENSP00000390338:p.Ala270Val					FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V|FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V	p.A270V			P41439	FOLR3_HUMAN			5	880	+			228					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.809C>T		.	.	.	.	.	.	.	.	.	.	N	12.66	2.005899	0.35415	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.75477	-0.7;-0.7;-0.94	2.94	2.94	0.34122	.	0.329884	0.24267	U	0.040024	D	0.83505	0.5269	.	.	.	0.39347	D	0.965682	D;D	0.89917	0.997;1.0	D;D	0.76071	0.985;0.987	D	0.84804	0.0786	8	.	.	.	.	11.6457	0.51259	0.0:1.0:0.0:0.0	.	272;228	E9PGT2;P41439	.;FOLR3_HUMAN	V	270;272;229	ENSP00000390338:A270V;ENSP00000399235:A272V;ENSP00000411161:A229V	.	A	+	2	0	FOLR3	71528474	0.991000	0.36638	0.144000	0.22314	0.029000	0.11900	3.037000	0.49775	1.638000	0.50547	0.467000	0.42956	GCT		0.532	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		34	193	0	0	0	1	0	34	193				
PLXNA3	55558	broad.mit.edu	37	X	153691782	153691782	+	Missense_Mutation	SNP	G	G	A	rs143738443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153691782G>A	ENST00000369682.3	+	5	1541	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	456	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACAGTCCCCGTGGTGGATGG	0.637																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1366-1368)Gtg>Atg		plexin A3			MET/VAL	0,3835		0,0,1632,571	119.0	103.0	108.0		1366	4.7	0.9	X	dbSNP_134	108	1,6727		0,1,2427,1872	no	missense	PLXNA3	NM_017514.3	21	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	456/1872	153691782	1,10562	2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153691782G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1366G>A	X.37:g.153691782G>A	ENSP00000358696:p.Val456Met						p.V456M	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			5	1541	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		456			Sema.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1366G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.825001	0.71143	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.05258	3.47	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.056966	0.64402	D	0.000002	T	0.27629	0.0679	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.63877	0.919	T	0.11941	-1.0567	10	0.72032	D	0.01	.	15.4863	0.75571	0.0:0.0:1.0:0.0	.	456	P51805	PLXA3_HUMAN	M	456	ENSP00000358696:V456M	ENSP00000358696:V456M	V	+	1	0	PLXNA3	153344976	1.000000	0.71417	0.870000	0.34147	0.307000	0.27823	9.191000	0.94940	2.164000	0.68074	0.525000	0.51046	GTG		0.637	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	540	0	0	0	1	0	8	540				
SF3B3	23450	broad.mit.edu	37	16	70603981	70603981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70603981G>T	ENST00000302516.5	+	24	3548	c.3337G>T	c.(3337-3339)Ggc>Tgc	p.G1113C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1113					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCCCTGGAGGCTCAGAATC	0.532																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3337-3339)Ggc>Tgc		splicing factor 3b, subunit 3, 130kDa							185.0	129.0	148.0					16																	70603981		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70603981G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3337G>T	16.37:g.70603981G>T	ENSP00000305790:p.Gly1113Cys						p.G1113C	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			24	3548	+		Ovarian(137;0.0694)	1113					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3337G>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407359	0.83230	.	.	ENSG00000189091	ENST00000302516	T	0.48201	0.82	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83781	0.0225	10	0.87932	D	0	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1113	Q15393	SF3B3_HUMAN	C	1113	ENSP00000305790:G1113C	ENSP00000305790:G1113C	G	+	1	0	SF3B3	69161482	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GGC		0.532	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		33	283	1	0	1.74807e-11	1	1.86564e-11	33	283				
PPARGC1B	133522	broad.mit.edu	37	5	149210396	149210396	+	Missense_Mutation	SNP	G	G	A	rs189353551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149210396G>A	ENST00000309241.5	+	4	564	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	178					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGGGACCGCCTGGCGCCA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20659	0.001		0.0	False		,,,				2504	0.0					ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(532-534)Gcc>Acc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							99.0	104.0	102.0					5																	149210396		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149210396G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.532G>A	5.37:g.149210396G>A	ENSP00000312649:p.Ala178Thr					PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T	p.A178T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	564	+			178					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.532G>A	CCDS4298.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.74	1.728445	0.30593	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.08896	3.04;3.05	5.29	-9.07	0.00724	.	0.903404	0.09510	N	0.792383	T	0.02533	0.0077	N	0.20685	0.6	0.36951	D	0.892856	B;B;B;B	0.16396	0.003;0.007;0.002;0.017	B;B;B;B	0.09377	0.002;0.004;0.001;0.004	T	0.45833	-0.9234	10	0.02654	T	1	-6.896	1.4094	0.02287	0.3069:0.083:0.2312:0.3789	.	157;157;178;178	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	T	178	ENSP00000377855:A178T;ENSP00000312649:A178T	ENSP00000312649:A178T	A	+	1	0	PPARGC1B	149190589	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-0.281000	0.08456	-1.252000	0.02491	0.561000	0.74099	GCC		0.577	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		130	601	0	0	0	1	0	130	601				
RREB1	6239	broad.mit.edu	37	6	7232026	7232026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7232026C>T	ENST00000349384.6	+	10	4008	c.3694C>T	c.(3694-3696)Ctg>Ttg	p.L1232L	RREB1_ENST00000334984.6_Silent_p.L1232L|RREB1_ENST00000379938.2_Silent_p.L1232L|RREB1_ENST00000379933.3_Silent_p.L1232L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1232					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACAAGCTGCTGAGGGCCAA	0.622																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3694-3696)Ctg>Ttg		ras responsive element binding protein 1							67.0	48.0	55.0					6																	7232026		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7232026C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3694C>T	6.37:g.7232026C>T						RREB1_ENST00000349384.6_Silent_p.L1232L|RREB1_ENST00000379933.3_Silent_p.L1232L|RREB1_ENST00000334984.6_Silent_p.L1232L	p.L1232L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	4231	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1232					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3694C>T	CCDS34336.1																																																																																				0.622	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			38	160	0	0	0	1	0	38	160				
OPN5	221391	broad.mit.edu	37	6	47776030	47776030	+	Silent	SNP	G	G	A	rs200073746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47776030G>A	ENST00000371211.2	+	5	925	c.897G>A	c.(895-897)gcG>gcA	p.A299A	OPN5_ENST00000393699.2_Silent_p.A299A|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Silent_p.A299A	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AATCTGCAGCGATGTACAATC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19694	0.001		0.0	False		,,,				2504	0.0				Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(895-897)gcG>gcA		opsin 5							226.0	208.0	214.0					6																	47776030		2203	4300	6503	SO:0001819	synonymous_variant	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47776030G>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.897G>A	6.37:g.47776030G>A						OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Silent_p.A299A|OPN5_ENST00000393699.2_Silent_p.A299A	p.A299A			Q6U736	OPN5_HUMAN			5	982	+			299					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	37	c.897G>A	CCDS4923.1																																																																																				0.453	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		19	708	0	0	0	1	0	19	708				
PLA2G4C	8605	broad.mit.edu	37	19	48598787	48598787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48598787C>T	ENST00000599921.1	-	7	1000	c.643G>A	c.(643-645)Gga>Aga	p.G215R	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G215R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	215	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATTTGCTTCCGAAGTGGGTT	0.542																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(643-645)Gga>Aga		phospholipase A2, group IVC (cytosolic, calcium-independent)							122.0	139.0	134.0					19																	48598787		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48598787C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.643G>A	19.37:g.48598787C>T	ENSP00000469473:p.Gly215Arg					PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G215R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R	p.G215R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	7	970	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	215			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.643G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401579	0.83120	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.48201	0.82;0.82	3.31	3.31	0.37934	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	U	0.000002	T	0.70954	0.3283	M	0.90082	3.085	0.34797	D	0.736353	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81885	-0.0727	10	0.87932	D	0	-13.7198	10.4531	0.44535	0.0:1.0:0.0:0.0	.	225;215	B4DI40;Q9UP65	.;PA24C_HUMAN	R	215	ENSP00000346228:G215R;ENSP00000400036:G215R	ENSP00000346228:G215R	G	-	1	0	PLA2G4C	53290599	1.000000	0.71417	0.678000	0.29963	0.839000	0.47603	3.119000	0.50422	1.553000	0.49476	0.205000	0.17691	GGA		0.542	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			203	841	0	0	0	1	0	203	841				
DUSP10	11221	broad.mit.edu	37	1	221913078	221913078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221913078C>T	ENST00000366899.3	-	2	247	c.9G>A	c.(7-9)ccG>ccA	p.P3P	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	3					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P3P(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTAAAGGAGACGGAGGCATGA	0.483																																						ENST00000366899.3																			1	Substitution - coding silent(1)	p.P3P(1)	lung(1)	NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(7-9)ccG>ccA		dual specificity phosphatase 10							65.0	64.0	64.0					1																	221913078		2203	4300	6503	SO:0001819	synonymous_variant	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221913078C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.9G>A	1.37:g.221913078C>T						DUSP10_ENST00000323825.3_Intron	p.P3P	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	247	-			3					D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	37	c.9G>A	CCDS1528.1																																																																																				0.483	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		29	355	0	0	0	1	0	29	355				
ZFPM1	161882	broad.mit.edu	37	16	88601210	88601210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88601210G>A	ENST00000319555.3	+	10	3166	c.2844G>A	c.(2842-2844)gcG>gcA	p.A948A		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	948					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ccccgccggcgcccccCTCCT	0.791																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2842-2844)gcG>gcA		zinc finger protein, FOG family member 1							7.0	9.0	9.0					16																	88601210		1898	4030	5928	SO:0001819	synonymous_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88601210G>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2844G>A	16.37:g.88601210G>A							p.A948A	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	3166	+			948						Silent	SNP	ENST00000319555.3	37	c.2844G>A	CCDS32502.1																																																																																				0.791	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			13	139	0	0	0	1	0	13	139				
MOGAT2	80168	broad.mit.edu	37	11	75442258	75442258	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75442258A>T	ENST00000198801.5	+	6	1002	c.932A>T	c.(931-933)gAg>gTg	p.E311V	MOGAT2_ENST00000526712.1_Missense_Mutation_p.E229V	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	311					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATATCAAAGAGCTGTGCAAC	0.552																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(685-687)gAg>gTg		monoacylglycerol O-acyltransferase 2							121.0	106.0	111.0					11																	75442258		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442258A>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.932A>T	11.37:g.75442258A>T	ENSP00000198801:p.Glu311Val					MOGAT2_ENST00000198801.5_Missense_Mutation_p.E311V	p.E229V			Q3SYC2	MOGT2_HUMAN			5	1459	+	Ovarian(111;0.103)		311					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.686A>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064722	0.76187	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14144	2.53;2.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	H	0.95574	3.69	0.58432	D	0.999997	D	0.63880	0.993	D	0.64877	0.93	T	0.61178	-0.7115	10	0.44086	T	0.13	-15.3991	15.6572	0.77150	1.0:0.0:0.0:0.0	.	311	Q3SYC2	MOGT2_HUMAN	V	311;229	ENSP00000198801:E311V;ENSP00000436283:E229V	ENSP00000198801:E311V	E	+	2	0	MOGAT2	75119906	0.993000	0.37304	0.402000	0.26371	0.978000	0.69477	3.826000	0.55738	2.371000	0.80710	0.533000	0.62120	GAG		0.552	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		79	336	0	0	0	1	0	79	336				
ARHGAP35	2909	broad.mit.edu	37	19	47424817	47424817	+	Missense_Mutation	SNP	G	G	A	rs140857154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424817G>A	ENST00000404338.3	+	1	2885	c.2885G>A	c.(2884-2886)aGc>aAc	p.S962N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	962					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GAGGCCTGTAGCACCACCGAA	0.463																																						ENST00000404338.3																			0											c.(2884-2886)aGc>aAc		Rho GTPase activating protein 35							62.0	62.0	62.0					19																	47424817		1925	4128	6053	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424817G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2885G>A	19.37:g.47424817G>A	ENSP00000385720:p.Ser962Asn						p.S962N	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2885	+			962					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2885G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	3.533	-0.095276	0.07010	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.07114	3.22	5.86	5.86	0.93980	.	0.132298	0.64402	D	0.000001	T	0.07908	0.0198	L	0.29908	0.895	0.36519	D	0.870073	P	0.36392	0.551	B	0.37144	0.242	T	0.13388	-1.0511	10	0.06494	T	0.89	-31.9416	18.9487	0.92632	0.0:0.0:1.0:0.0	.	962	Q9NRY4-2	.	N	962	ENSP00000385720:S962N	ENSP00000324820:S962N	S	+	2	0	ARHGAP35	52116657	0.608000	0.26966	1.000000	0.80357	0.990000	0.78478	1.000000	0.29770	2.778000	0.95560	0.655000	0.94253	AGC		0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		71	273	0	0	0	1	0	71	273				
NEK9	91754	broad.mit.edu	37	14	75567812	75567812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75567812G>A	ENST00000238616.5	-	16	2043	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	629					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CCAACGCCCAGCTGCCCACAC	0.542																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1885-1887)Ctg>Ttg		NIMA-related kinase 9							45.0	46.0	45.0					14																	75567812		2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75567812G>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1885C>T	14.37:g.75567812G>A							p.L629L	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	16	2043	-			629					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.1885C>T	CCDS9839.1																																																																																				0.542	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		53	189	0	0	0	1	0	53	189				
TRPV4	59341	broad.mit.edu	37	12	110224581	110224581	+	Missense_Mutation	SNP	C	C	T	rs143835743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110224581C>T	ENST00000418703.2	-	13	2364	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	757					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTCCCCAGAGCGGAAGGCCTT	0.662																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2269-2271)cGc>cAc		transient receptor potential cation channel, subfamily V, member 4		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	65.0	73.0		2129,2168,1949,2270,2090	4.8	1.0	12	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	710/825,723/838,650/765,757/872,697/812	110224581	1,13005	2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110224581C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2270G>A	12.37:g.110224581C>T	ENSP00000406191:p.Arg757His					TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H	p.R757H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			13	2364	-			757					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2270G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090065	0.94149	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.988;0.997	D;D;D;P;P	0.91635	0.999;0.998;0.999;0.764;0.829	D	0.94852	0.8014	10	0.62326	D	0.03	-31.3539	16.8762	0.86052	0.0:1.0:0.0:0.0	.	697;757;650;710;723	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	757;757;710;697;650;697;710;723	ENSP00000406191:R757H;ENSP00000261740:R757H;ENSP00000376480:R710H;ENSP00000319003:R697H;ENSP00000443611:R650H;ENSP00000442738:R697H;ENSP00000442167:R710H;ENSP00000444336:R723H	ENSP00000261740:R757H	R	-	2	0	TRPV4	108708964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.170000	0.77587	2.645000	0.89757	0.655000	0.94253	CGC		0.662	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		11	323	0	0	0	1	0	11	323				
TNNI1	7135	broad.mit.edu	37	1	201382201	201382201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201382201G>A	ENST00000361379.4	-	6	330	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	80					muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						ATGTCGTATCGCTCCTCATCC	0.602																																						ENST00000361379.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(238-240)Cga>Tga		troponin I type 1 (skeletal, slow)							324.0	287.0	299.0					1																	201382201		2203	4300	6503	SO:0001587	stop_gained	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201382201G>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.238C>T	1.37:g.201382201G>A	ENSP00000354488:p.Arg80*					TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*	p.R80*	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN			6	330	-			80					A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Nonsense_Mutation	SNP	ENST00000361379.4	37	c.238C>T	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398269	0.83120	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000555340;ENST00000556362	.	.	.	5.11	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2465	10.757	0.46243	0.0:0.0:0.281:0.719	.	.	.	.	X	80;80;80;80;80;80;59;80	.	ENSP00000337022:R80X	R	-	1	2	TNNI1	199648824	1.000000	0.71417	0.979000	0.43373	0.285000	0.27093	2.223000	0.42936	1.010000	0.39314	0.561000	0.74099	CGA		0.602	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		352	1851	0	0	0	1	0	352	1851				
PPP2CB	5516	broad.mit.edu	37	8	30655229	30655229	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30655229G>A	ENST00000221138.4	-	3	804	c.354C>T	c.(352-354)caC>caT	p.H118H	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'Flank	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	118					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.H118H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GTCGGCTTTCGTGATTTCCTC	0.363																																						ENST00000221138.4																			1	Substitution - coding silent(1)	p.H118H(1)	lung(1)	breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9						c.(352-354)caC>caT		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)						85.0	75.0	79.0					8																	30655229		2203	4300	6503	SO:0001819	synonymous_variant	5516				protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	g.chr8:30655229G>A		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.354C>T	8.37:g.30655229G>A						PPP2CB_ENST00000518564.1_Intron	p.H118H	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	3	804	-			118					D3DSV4|P11082|Q6FHK5	Silent	SNP	ENST00000221138.4	37	c.354C>T	CCDS6079.1																																																																																				0.363	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		38	205	0	0	0	1	0	38	205				
IGSF9B	22997	broad.mit.edu	37	11	133791235	133791235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133791235T>G	ENST00000321016.8	-	18	2615	c.2385A>C	c.(2383-2385)gaA>gaC	p.E795D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E795D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	795					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCGGAGGATTCTGACGGCG	0.657																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2383-2385)gaA>gaC		immunoglobulin superfamily, member 9B							23.0	23.0	23.0					11																	133791235		2053	4193	6246	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133791235T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2385A>C	11.37:g.133791235T>G	ENSP00000317980:p.Glu795Asp					IGSF9B_ENST00000533871.2_Missense_Mutation_p.E795D	p.E795D			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2615	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	795					G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2385A>C		.	.	.	.	.	.	.	.	.	.	T	8.165	0.790320	0.16258	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.15;-0.18	4.47	-0.231	0.13086	.	0.000000	0.44902	D	0.000401	T	0.47637	0.1456	L	0.36672	1.1	0.30701	N	0.750329	D	0.56521	0.976	P	0.45232	0.474	T	0.54118	-0.8341	10	0.21540	T	0.41	.	9.1134	0.36741	0.0:0.54:0.0:0.46	.	795	Q9UPX0	TUTLB_HUMAN	D	795;637	ENSP00000317980:E795D;ENSP00000436552:E637D	ENSP00000317980:E795D	E	-	3	2	IGSF9B	133296445	0.984000	0.35163	0.976000	0.42696	0.158000	0.22134	0.228000	0.17814	0.131000	0.18576	-0.337000	0.08149	GAA		0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		40	126	0	0	0	1	0	40	126				
RB1	5925	broad.mit.edu	37	13	48916833	48916833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48916833G>T	ENST00000267163.4	+	3	501	c.363G>T	c.(361-363)caG>caT	p.Q121H		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	121					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGAGCTACAGAAAAACATAG	0.348		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		20	Whole gene deletion(15)|Unknown(5)	p.0?(15)|p.?(5)	bone(10)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(361-363)caG>caT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78.0	85.0	82.0					13																	48916833		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48916833G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.363G>T	13.37:g.48916833G>T	ENSP00000267163:p.Gln121His	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Q121H	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	501	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	121					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.363G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561901	0.65538	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.73575	-0.76	5.39	3.65	0.41850	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.149165	0.47093	D	0.000243	T	0.73969	0.3655	L	0.36672	1.1	0.32600	N	0.52605	D	0.57571	0.98	P	0.57425	0.82	T	0.78432	-0.2206	10	0.72032	D	0.01	.	8.6149	0.33826	0.1784:0.0:0.8216:0.0	.	121	P06400	RB_HUMAN	H	100;121	ENSP00000267163:Q121H	ENSP00000267163:Q121H	Q	+	3	2	RB1	47814834	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.421000	0.44688	0.745000	0.32763	0.603000	0.83216	CAG		0.348	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			17	259	1	0	6.94344e-10	1	7.33246e-10	17	259				
IGHV3-43	28426	broad.mit.edu	37	14	106926451	106926451	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106926451C>T	ENST00000434710.1	-	0	170									immunoglobulin heavy variable 3-43																		CCAGGCTGTACCACGACTCCC	0.562																																						ENST00000434710.1																			0																				162.0	106.0	124.0					14																	106926451		1986	4142	6128			0							g.chr14:106926451C>T	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926451C>T														0	170	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.562	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		135	1285	0	0	0	1	0	135	1285				
PTPRS	5802	broad.mit.edu	37	19	5244425	5244425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244425C>T	ENST00000587303.1	-	10	1156	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N|PTPRS_ENST00000372412.4_Missense_Mutation_p.D354N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	353	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTGCCCGAGTCCCACGTGATG	0.552																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1060-1062)Gac>Aac		protein tyrosine phosphatase, receptor type, S							126.0	116.0	119.0					19																	5244425		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244425C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1057G>A	19.37:g.5244425C>T	ENSP00000467537:p.Asp353Asn					PTPRS_ENST00000587303.1_Missense_Mutation_p.D353N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N	p.D354N			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1293	-			353			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1060G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887699	0.91814	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000002	T	0.67692	0.2920	L	0.54323	1.7	0.32005	N	0.602871	D;P;D;D;D;D	0.89917	0.991;0.865;0.981;0.999;1.0;0.959	P;B;P;D;D;P	0.91635	0.763;0.425;0.763;0.973;0.999;0.721	T	0.74665	-0.3589	10	0.62326	D	0.03	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	353;340;344;340;353;366	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	N	366;354;353;353;353;349;340;353;344;340	ENSP00000361489:D354N;ENSP00000349932:D353N;ENSP00000262963:D349N;ENSP00000269907:D340N;ENSP00000327313:D340N	ENSP00000262963:D349N	D	-	1	0	PTPRS	5195425	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GAC		0.552	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			64	271	0	0	0	1	0	64	271				
CNGB1	1258	broad.mit.edu	37	16	57998403	57998403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57998403G>A	ENST00000251102.8	-	3	265	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S|CNGB1_ENST00000564448.1_Missense_Mutation_p.P69S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	69					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGAGGGCTTGGGTCTGCCACA	0.632																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(205-207)Cca>Tca		cyclic nucleotide gated channel beta 1							49.0	55.0	53.0					16																	57998403		2025	4181	6206	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57998403G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.205C>T	16.37:g.57998403G>A	ENSP00000251102:p.Pro69Ser					CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S|CNGB1_ENST00000251102.8_Missense_Mutation_p.P69S	p.P69S			Q14028	CNGB1_HUMAN			3	265	-			69					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.205C>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459938	0.26248	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96427	-4.01;0.97	3.75	2.8	0.32819	.	0.232817	0.22319	N	0.061633	D	0.92993	0.7770	L	0.43923	1.385	0.09310	N	1	P;B	0.36392	0.551;0.028	B;B	0.38842	0.283;0.009	D	0.88097	0.2817	10	0.87932	D	0	.	7.1745	0.25736	0.1202:0.0:0.8798:0.0	.	69;69	Q14028-3;Q14028	.;CNGB1_HUMAN	S	69	ENSP00000251102:P69S;ENSP00000311670:P69S	ENSP00000251102:P69S	P	-	1	0	CNGB1	56555904	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.624000	0.24462	1.157000	0.42530	0.655000	0.94253	CCA		0.632	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		49	219	0	0	0	1	0	49	219				
LHX8	431707	broad.mit.edu	37	1	75622644	75622644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75622644C>T	ENST00000294638.5	+	9	1541	c.877C>T	c.(877-879)Cca>Tca	p.P293S	LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	293					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATCCTCCACCCCAGTCACAGC	0.512																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(877-879)Cca>Tca		LIM homeobox 8							283.0	248.0	260.0					1																	75622644		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622644C>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.877C>T	1.37:g.75622644C>T	ENSP00000294638:p.Pro293Ser					LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	p.P293S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			9	1541	+			293					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.877C>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799984	0.50208	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87334	-2.24;-2.22	5.12	5.12	0.69794	.	0.049313	0.85682	D	0.000000	T	0.80914	0.4715	L	0.55481	1.735	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.77688	-0.2494	10	0.52906	T	0.07	.	18.9441	0.92615	0.0:1.0:0.0:0.0	.	293	Q68G74	LHX8_HUMAN	S	293;283	ENSP00000294638:P293S;ENSP00000348597:P283S	ENSP00000294638:P293S	P	+	1	0	LHX8	75395232	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.030000	0.76484	2.556000	0.86216	0.455000	0.32223	CCA		0.512	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		106	411	0	0	0	1	0	106	411				
ACSM4	341392	broad.mit.edu	37	12	7459295	7459295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7459295G>T	ENST00000399422.4	+	2	416	c.368G>T	c.(367-369)aGa>aTa	p.R123I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	123					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ATTCTGCCCAGAATCCCTGAG	0.512																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(367-369)aGa>aTa		acyl-CoA synthetase medium-chain family member 4							76.0	82.0	80.0					12																	7459295		2081	4246	6327	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7459295G>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.368G>T	12.37:g.7459295G>T	ENSP00000382349:p.Arg123Ile						p.R123I	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			2	416	+			123					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.368G>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.032603	0.75504	.	.	ENSG00000215009	ENST00000399422	T	0.12465	2.68	4.89	4.0	0.46444	AMP-dependent synthetase/ligase (1);	0.000000	0.36200	U	0.002740	T	0.41650	0.1168	M	0.90145	3.09	0.53005	D	0.999965	D	0.63880	0.993	D	0.63703	0.917	T	0.53606	-0.8415	10	0.87932	D	0	-12.2778	13.4508	0.61169	0.0:0.159:0.841:0.0	.	123	P0C7M7	ACSM4_HUMAN	I	123	ENSP00000382349:R123I	ENSP00000382349:R123I	R	+	2	0	ACSM4	7350562	0.947000	0.32204	0.931000	0.37212	0.884000	0.51177	5.178000	0.65037	1.216000	0.43427	-0.121000	0.15023	AGA		0.512	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		20	76	1	0	3.62473e-10	1	3.83521e-10	20	76				
PRDM9	56979	broad.mit.edu	37	5	23522797	23522797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522797G>A	ENST00000296682.3	+	8	867	c.685G>A	c.(685-687)Gca>Aca	p.A229T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	229					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGGACAGTGCAGTGGACAA	0.552										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(685-687)Gca>Aca		PR domain containing 9							54.0	52.0	53.0					5																	23522797		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522797G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.685G>A	5.37:g.23522797G>A	ENSP00000296682:p.Ala229Thr	HNSCC(3;0.000094)					p.A229T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	867	+			229					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.685G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198050	0.38806	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.50001	0.76	4.28	-1.93	0.07594	.	0.247922	0.21003	N	0.081821	T	0.28830	0.0715	L	0.42686	1.345	0.09310	N	1	B	0.22800	0.075	B	0.14023	0.01	T	0.10245	-1.0638	10	0.23302	T	0.38	-0.7371	3.8134	0.08806	0.1023:0.4634:0.2774:0.1569	.	229	Q9NQV7	PRDM9_HUMAN	T	229;23	ENSP00000296682:A229T	ENSP00000253473:A23T	A	+	1	0	PRDM9	23558554	0.000000	0.05858	0.002000	0.10522	0.906000	0.53458	0.056000	0.14256	-0.259000	0.09432	0.597000	0.82753	GCA		0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		36	195	0	0	0	1	0	36	195				
CXorf67	340602	broad.mit.edu	37	X	51150481	51150481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51150481C>T	ENST00000342995.2	+	1	715	c.613C>T	c.(613-615)Cac>Tac	p.H205Y				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	205										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						ACTCCTAAGCCACGCATCTGA	0.632																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(613-615)Cac>Tac		chromosome X open reading frame 67							40.0	23.0	28.0					X																	51150481		2199	4299	6498	SO:0001583	missense	340602							g.chrX:51150481C>T	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.613C>T	X.37:g.51150481C>T	ENSP00000342680:p.His205Tyr						p.H205Y							1	715	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.613C>T		.	.	.	.	.	.	.	.	.	.	C	11.81	1.749373	0.30955	.	.	ENSG00000187690	ENST00000342995	T	0.45276	0.9	3.52	3.52	0.40303	.	2.088910	0.02474	N	0.087868	T	0.42177	0.1191	.	.	.	0.09310	N	1	P	0.52316	0.952	P	0.46299	0.511	T	0.33214	-0.9877	9	0.56958	D	0.05	-0.3687	5.9951	0.19489	0.0:0.8591:0.0:0.1409	.	205	Q86X51	CX067_HUMAN	Y	205	ENSP00000342680:H205Y	ENSP00000342680:H205Y	H	+	1	0	CXorf67	51167221	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.947000	0.29082	2.010000	0.58986	0.600000	0.82982	CAC		0.632	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		13	58	0	0	0	1	0	13	58				
NSUN2	54888	broad.mit.edu	37	5	6604331	6604331	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6604331T>G	ENST00000264670.6	-	17	2188	c.1877A>C	c.(1876-1878)gAt>gCt	p.D626A	NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A|NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	626					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TATCTTAACATCTTCCATTGA	0.363																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1876-1878)gAt>gCt		NOP2/Sun RNA methyltransferase family, member 2							111.0	110.0	110.0					5																	6604331		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6604331T>G	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1877A>C	5.37:g.6604331T>G	ENSP00000264670:p.Asp626Ala					NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A|NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A	p.D626A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			17	2188	-			626					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1877A>C	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407983	0.83340	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.64438	-0.1;-0.1;-0.1	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.996	T	0.81623	-0.0849	10	0.15952	T	0.53	-52.9141	16.3668	0.83335	0.0:0.0:0.0:1.0	.	591;626;626	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	A	626;390;591	ENSP00000264670:D626A;ENSP00000444338:D390A;ENSP00000420957:D591A	ENSP00000264670:D626A	D	-	2	0	NSUN2	6657331	1.000000	0.71417	0.952000	0.39060	0.677000	0.39632	6.985000	0.76193	2.322000	0.78497	0.528000	0.53228	GAT		0.363	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		41	195	0	0	0	1	0	41	195				
ATXN1	6310	broad.mit.edu	37	6	16326701	16326701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16326701G>A	ENST00000244769.4	-	8	2777	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	614	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTCTCTACGGTGCTGGAGTC	0.552																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1840-1842)aCc>aTc		ataxin 1							88.0	88.0	88.0					6																	16326701		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16326701G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1841C>T	6.37:g.16326701G>A	ENSP00000244769:p.Thr614Ile					ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	p.T614I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2777	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	614			AXH.|Interaction with USP7.|RNA-binding.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.1841C>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889332	0.72524	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.80653	-1.4;-1.4	4.45	4.45	0.53987	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.048732	0.85682	D	0.000000	D	0.86723	0.6001	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88471	0.3062	10	0.87932	D	0	-17.0797	17.2893	0.87150	0.0:0.0:1.0:0.0	.	614	P54253	ATX1_HUMAN	I	614	ENSP00000244769:T614I;ENSP00000416360:T614I	ENSP00000244769:T614I	T	-	2	0	ATXN1	16434680	1.000000	0.71417	0.931000	0.37212	0.741000	0.42261	9.125000	0.94402	2.307000	0.77673	0.561000	0.74099	ACC		0.552	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		97	429	0	0	0	1	0	97	429				
CDK8	1024	broad.mit.edu	37	13	26923286	26923286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923286G>A	ENST00000381527.3	+	3	785	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGAAGGTGTGGCTTCTGTTTG	0.413																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(280-282)tgG>tgA		cyclin-dependent kinase 8							221.0	198.0	205.0					13																	26923286		2203	4300	6503	SO:0001587	stop_gained	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26923286G>A	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.282G>A	13.37:g.26923286G>A	ENSP00000370938:p.Trp94*					CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	p.W94*	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	3	785	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	94			Protein kinase.		Q5VUF3|Q6ISB5	Nonsense_Mutation	SNP	ENST00000381527.3	37	c.282G>A	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441608	0.96187	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	.	.	.	4.97	4.97	0.65823	.	0.059337	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.1766	18.2519	0.90006	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000370938:W94X	W	+	3	0	CDK8	25821286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.304000	0.77564	0.467000	0.42956	TGG		0.413	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			118	615	0	0	0	1	0	118	615				
NPAP1	23742	broad.mit.edu	37	15	24922657	24922657	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922657T>C	ENST00000329468.2	+	1	2117	c.1643T>C	c.(1642-1644)aTg>aCg	p.M548T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	548					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGCAAGCCTATGAATTCCACG	0.488																																						ENST00000329468.2																			0											c.(1642-1644)aTg>aCg		nuclear pore associated protein 1							177.0	168.0	171.0					15																	24922657		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922657T>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1643T>C	15.37:g.24922657T>C	ENSP00000333735:p.Met548Thr						p.M548T	NM_018958.2	NP_061831.2					1	2117	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1643T>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.409	0.075619	0.08485	.	.	ENSG00000185823	ENST00000329468	T	0.05319	3.46	1.82	-3.02	0.05446	.	2.363510	0.01941	N	0.041865	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37009	-0.9724	10	0.13108	T	0.6	.	3.6819	0.08313	0.0:0.1696:0.4764:0.354	.	548	Q9NZP6	CO002_HUMAN	T	548	ENSP00000333735:M548T	ENSP00000333735:M548T	M	+	2	0	C15orf2	22473750	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-0.924000	0.03996	-0.792000	0.04480	0.172000	0.16884	ATG		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		186	799	0	0	0	1	0	186	799				
MTFR1L	56181	broad.mit.edu	37	1	26156313	26156313	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26156313T>A	ENST00000374301.3	+	6	1073	c.765T>A	c.(763-765)agT>agA	p.S255R	MTFR1L_ENST00000374303.2_Missense_Mutation_p.S255R|MTFR1L_ENST00000524618.1_Missense_Mutation_p.S158R|MTFR1L_ENST00000374300.3_Missense_Mutation_p.S255R|MTFR1L_ENST00000526894.1_3'UTR|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_3'UTR|MTFR1L_ENST00000374307.5_Missense_Mutation_p.S243R|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000474295.1_3'UTR	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	255																	TGAAACAGAGTCAAGATCTGT	0.433																																						ENST00000374301.3																			0											c.(763-765)agT>agA		mitochondrial fission regulator 1-like							28.0	27.0	27.0					1																	26156313		1919	4119	6038	SO:0001583	missense	56181							g.chr1:26156313T>A		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.765T>A	1.37:g.26156313T>A	ENSP00000363419:p.Ser255Arg					MTFR1L_ENST00000474295.1_3'UTR|MTFR1L_ENST00000524618.1_Missense_Mutation_p.S158R|MTFR1L_ENST00000374300.3_Missense_Mutation_p.S255R|MTFR1L_ENST00000526894.1_3'UTR|MTFR1L_ENST00000374303.2_Missense_Mutation_p.S255R|MTFR1L_ENST00000374307.5_Missense_Mutation_p.S243R|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_3'UTR	p.S255R	NM_019557.5	NP_062457.3					6	1073	+								A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.765T>A	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070463	0.36566	.	.	ENSG00000117640	ENST00000374303;ENST00000472643;ENST00000524618;ENST00000374307;ENST00000374301;ENST00000374300	T;T;T;T	0.51071	0.8;0.72;0.8;0.8	5.95	2.08	0.27032	.	0.151648	0.64402	D	0.000001	T	0.31827	0.0809	L	0.34521	1.04	0.49051	D	0.999747	B;P;P	0.48016	0.317;0.904;0.846	B;B;P	0.44359	0.238;0.393;0.447	T	0.33394	-0.9870	10	0.02654	T	1	-3.3299	9.2569	0.37588	0.0:0.669:0.0:0.331	.	288;243;255	B4DRE5;Q9H019-3;Q9H019	.;.;FA54B_HUMAN	R	255;158;158;243;255;255	ENSP00000363421:S255R;ENSP00000363426:S243R;ENSP00000363419:S255R;ENSP00000363418:S255R	ENSP00000363418:S255R	S	+	3	2	FAM54B	26028900	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.481000	0.45215	0.138000	0.18790	-0.146000	0.13790	AGT		0.433	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		9	95	0	0	0	1	0	9	95				
TBL2	26608	broad.mit.edu	37	7	72987671	72987671	+	Missense_Mutation	SNP	C	C	T	rs199565638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72987671C>T	ENST00000305632.5	-	4	818	c.577G>A	c.(577-579)Gac>Aac	p.D193N	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.D193N|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	193							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGCCAATGTCGATGACAGGC	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21452	0.0		0.0	False		,,,				2504	0.0					ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(577-579)Gac>Aac		transducin (beta)-like 2							166.0	145.0	152.0					7																	72987671		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72987671C>T	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.577G>A	7.37:g.72987671C>T	ENSP00000307260:p.Asp193Asn					TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.D193N|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N	p.D193N	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			4	818	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	193					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.577G>A	CCDS5551.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.618	0.114819	0.08831	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.61040	0.14;0.14;0.14	5.48	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.082171	0.85682	N	0.000000	T	0.21590	0.0520	N	0.01086	-1.025	0.30548	N	0.765783	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28490	-1.0042	10	0.02654	T	1	-24.6045	8.879	0.35363	0.0:0.0913:0.0:0.9087	.	157;193	E9PF19;Q9Y4P3	.;TBL2_HUMAN	N	193;193;157;193	ENSP00000307260:D193N;ENSP00000413979:D157N;ENSP00000407371:D193N	ENSP00000307260:D193N	D	-	1	0	TBL2	72625607	1.000000	0.71417	0.983000	0.44433	0.422000	0.31414	6.240000	0.72363	0.930000	0.37217	-0.367000	0.07326	GAC		0.522	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		94	490	0	0	0	1	0	94	490				
OR5H14	403273	broad.mit.edu	37	3	97868310	97868310	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868310G>A	ENST00000437310.1	+	1	141	c.81G>A	c.(79-81)ctG>ctA	p.L27L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAATACCCCTGTTCCTGGCAT	0.423																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(79-81)ctG>ctA		olfactory receptor, family 5, subfamily H, member 14							82.0	86.0	85.0					3																	97868310		2202	4279	6481	SO:0001819	synonymous_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868310G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.81G>A	3.37:g.97868310G>A							p.L27L	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	141	+			27					B9EH15	Silent	SNP	ENST00000437310.1	37	c.81G>A	CCDS33798.1																																																																																				0.423	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			102	964	0	0	0	1	0	102	964				
BAI1	575	broad.mit.edu	37	8	143603441	143603441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143603441G>A	ENST00000517894.1	+	21	4034	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCGGAACCGCCTCATCCGC	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3139-3141)cGc>cAc		brain-specific angiogenesis inhibitor 1							30.0	40.0	36.0					8																	143603441		2200	4298	6498	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603441G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3140G>A	8.37:g.143603441G>A	ENSP00000430945:p.Arg1047His					BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H	p.R1047H			O14514	BAI1_HUMAN			21	4034	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1047						Missense_Mutation	SNP	ENST00000517894.1	37	c.3140G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.474454	0.84640	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49720	0.77;0.77	3.78	3.78	0.43462	.	0.162599	0.41938	U	0.000782	T	0.52354	0.1729	L	0.46567	1.45	0.46131	D	0.99888	P	0.48016	0.904	P	0.51974	0.686	T	0.53823	-0.8384	10	0.42905	T	0.14	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1047	E9PBK0	.	H	1047	ENSP00000430945:R1047H;ENSP00000313046:R1047H	ENSP00000313046:R1047H	R	+	2	0	BAI1	143600443	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.699000	0.84547	1.641000	0.50575	0.305000	0.20034	CGC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		62	168	0	0	0	1	0	62	168				
IGSF9	57549	broad.mit.edu	37	1	159899737	159899737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159899737G>A	ENST00000368094.1	-	16	2290	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	IGSF9_ENST00000361509.3_Missense_Mutation_p.A682V|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	698	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCGCGAAGGCCACGAGGCG	0.677																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2092-2094)gCc>gTc		immunoglobulin superfamily, member 9							27.0	26.0	26.0					1																	159899737		2194	4294	6488	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159899737G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2093C>T	1.37:g.159899737G>A	ENSP00000357073:p.Ala698Val					IGSF9_ENST00000361509.3_Missense_Mutation_p.A682V|IGSF9_ENST00000493195.1_5'UTR	p.A698V	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		16	2290	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	698			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000368094.1	37	c.2093C>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962311	0.74016	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.76060	-0.99;-0.99	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39274	N	0.001415	T	0.81786	0.4896	M	0.70595	2.14	0.50467	D	0.999879	D	0.76494	0.999	D	0.76575	0.988	T	0.82112	-0.0618	9	.	.	.	-19.5679	15.7293	0.77790	0.0:0.0:1.0:0.0	.	698	Q9P2J2	TUTLA_HUMAN	V	682;698	ENSP00000355049:A682V;ENSP00000357073:A698V	.	A	-	2	0	IGSF9	158166361	1.000000	0.71417	0.986000	0.45419	0.280000	0.26924	8.747000	0.91610	2.296000	0.77279	0.561000	0.74099	GCC		0.677	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		11	57	0	0	0	1	0	11	57				
AKR1B1	231	broad.mit.edu	37	7	134133231	134133231	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133231T>C	ENST00000285930.4	-	6	646	c.567A>G	c.(565-567)ccA>ccG	p.P189P	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	189					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GAGTGAGATATGGGTGGCACT	0.532																																						ENST00000285930.4																			0				kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14						c.(565-567)ccA>ccG		aldo-keto reductase family 1, member B1 (aldose reductase)	NADH(DB00157)|Sulindac(DB00605)						103.0	96.0	98.0					7																	134133231		2203	4300	6503	SO:0001819	synonymous_variant	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134133231T>C	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.567A>G	7.37:g.134133231T>C							p.P189P	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN			6	646	-			189					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	37	c.567A>G	CCDS5831.1																																																																																				0.532	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		15	175	0	0	0	1	0	15	175				
POTEG	404785	broad.mit.edu	37	14	19566057	19566057	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19566057A>C	ENST00000409832.3	+	6	1153	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	367										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGATGCTAAAAGTCTCTTCTG	0.318																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1099-1101)aaA>aaC		POTE ankyrin domain family, member G							84.0	98.0	93.0					14																	19566057		1508	2699	4207	SO:0001583	missense	404785							g.chr14:19566057A>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1101A>C	14.37:g.19566057A>C	ENSP00000386971:p.Lys367Asn					CTD-2311B13.5_ENST00000548748.1_lincRNA	p.K367N	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			6	1153	+			367					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1101A>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	10.67	1.416102	0.25552	.	.	ENSG00000222036	ENST00000409832	T	0.16897	2.31	2.2	-1.92	0.07618	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.13243	0.0321	L	0.48362	1.52	0.09310	N	1	B	0.21147	0.052	B	0.24541	0.054	T	0.34750	-0.9816	9	0.39692	T	0.17	.	5.1066	0.14787	0.3344:0.0:0.0:0.6656	.	367	Q6S5H5	POTEG_HUMAN	N	367	ENSP00000386971:K367N	ENSP00000386971:K367N	K	+	3	2	POTEG	18636057	0.006000	0.16342	0.001000	0.08648	0.008000	0.06430	0.146000	0.16180	-0.002000	0.14469	0.155000	0.16302	AAA		0.318	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		36	519	0	0	0	1	0	36	519				
SHANK2	22941	broad.mit.edu	37	11	70333167	70333167	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70333167G>T	ENST00000423696.2	-	15	2130	c.2094C>A	c.(2092-2094)ccC>ccA	p.P698P	SHANK2_ENST00000409161.1_Silent_p.P481P|SHANK2_ENST00000449833.2_Silent_p.P482P|SHANK2_ENST00000338508.4_Silent_p.P1078P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	698					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCGGCAAAGGGGCTGCTGA	0.701																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3232-3234)ccC>ccA		SH3 and multiple ankyrin repeat domains 2							29.0	35.0	33.0					11																	70333167		2162	4210	6372	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333167G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2094C>A	11.37:g.70333167G>T						SHANK2_ENST00000409161.1_Silent_p.P481P|SHANK2_ENST00000423696.2_Silent_p.P698P|SHANK2_ENST00000449833.2_Silent_p.P482P	p.P1078P			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3233	-			698					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3234C>A																																																																																					0.701	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		108	423	1	0	2.12943e-44	1	2.60573e-44	108	423				
SOX13	9580	broad.mit.edu	37	1	204091060	204091060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204091060C>T	ENST00000367204.1	+	8	917	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	270	Pro-rich.			P -> L (in Ref. 4; AAD50120). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCACAGCCCCCCTGCCCCAGT	0.622																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(808-810)Cct>Tct		SRY (sex determining region Y)-box 13							41.0	43.0	42.0					1																	204091060		2007	4171	6178	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204091060C>T		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.808C>T	1.37:g.204091060C>T	ENSP00000356172:p.Pro270Ser						p.P270S	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		8	917	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		270	P -> L (in Ref. 4; AAD50120).		Pro-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.808C>T	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164944	0.09287	.	.	ENSG00000143842	ENST00000367204	D	0.97620	-4.46	4.95	4.03	0.46877	.	0.103506	0.64402	D	0.000003	D	0.95252	0.8460	L	0.56769	1.78	0.32679	N	0.515761	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.002;0.003;0.003	D	0.94865	0.8025	10	0.59425	D	0.04	.	13.4842	0.61355	0.0:0.8434:0.1566:0.0	.	137;137;270	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	S	270	ENSP00000356172:P270S	ENSP00000356172:P270S	P	+	1	0	SOX13	202357683	0.380000	0.25131	0.838000	0.33150	0.942000	0.58702	2.406000	0.44557	1.039000	0.40074	0.561000	0.74099	CCT		0.622	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		18	128	0	0	0	1	0	18	128				
PIK3R4	30849	broad.mit.edu	37	3	130405110	130405110	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130405110C>T	ENST00000356763.3	-	15	3977	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1140					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAGGCCCGACTTTAAATCAT	0.478																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(3418-3420)aaG>aaA		phosphoinositide-3-kinase, regulatory subunit 4							124.0	114.0	117.0					3																	130405110		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130405110C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3420G>A	3.37:g.130405110C>T						PIK3R4_ENST00000512677.1_5'UTR	p.K1140K	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			15	3977	-			1140					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.3420G>A	CCDS3067.1																																																																																				0.478	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		56	243	0	0	0	1	0	56	243				
UBR1	197131	broad.mit.edu	37	15	43351939	43351939	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43351939G>A	ENST00000290650.4	-	8	1024	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	316					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAACCAAGACGCAAAGCAAAT	0.348																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(946-948)Cgt>Tgt		ubiquitin protein ligase E3 component n-recognin 1							79.0	78.0	79.0					15																	43351939		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43351939G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.946C>T	15.37:g.43351939G>A	ENSP00000290650:p.Arg316Cys					UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	p.R316C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	8	1024	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	316					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.946C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505141	0.26949	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.72051	0.19;-0.62	5.27	5.27	0.74061	.	0.051151	0.85682	D	0.000000	T	0.60573	0.2279	L	0.39147	1.195	0.58432	D	0.999999	B;B	0.27450	0.134;0.179	B;B	0.17722	0.016;0.019	T	0.60900	-0.7171	10	0.56958	D	0.05	-24.1461	12.402	0.55418	0.0763:0.0:0.9237:0.0	.	316;316	B4DYL2;Q8IWV7	.;UBR1_HUMAN	C	316	ENSP00000290650:R316C;ENSP00000371612:R316C	ENSP00000290650:R316C	R	-	1	0	UBR1	41139231	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	5.971000	0.70440	2.746000	0.94184	0.561000	0.74099	CGT		0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		56	251	0	0	0	1	0	56	251				
ZNF512B	57473	broad.mit.edu	37	20	62597563	62597563	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62597563T>G	ENST00000450537.1	-	5	1025	c.965A>C	c.(964-966)aAa>aCa	p.K322T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGCACCATTTTGCAGGGCGG	0.592																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(964-966)aAa>aCa		zinc finger protein 512B							112.0	100.0	104.0					20																	62597563		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597563T>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.965A>C	20.37:g.62597563T>G	ENSP00000393795:p.Lys322Thr					ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T	p.K322T			Q96KM6	Z512B_HUMAN			5	1025	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		322					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.965A>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034312	0.75617	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24908	1.83;1.83;1.83	5.54	5.54	0.83059	.	0.397373	0.24054	N	0.041980	T	0.42539	0.1207	L	0.50333	1.59	0.36736	D	0.881961	D	0.76494	0.999	D	0.66716	0.946	T	0.49418	-0.8942	10	0.52906	T	0.07	-18.8106	12.063	0.53572	0.0:0.0:0.0:1.0	.	322	Q96KM6	Z512B_HUMAN	T	322	ENSP00000358904:K322T;ENSP00000393795:K322T;ENSP00000217130:K322T	ENSP00000217130:K322T	K	-	2	0	ZNF512B	62068007	0.929000	0.31497	0.964000	0.40570	0.984000	0.73092	0.328000	0.19681	2.104000	0.64026	0.477000	0.44152	AAA		0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		89	439	0	0	0	1	0	89	439				
IL7	3574	broad.mit.edu	37	8	79652256	79652256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79652256T>C	ENST00000263851.4	-	3	809	c.209A>G	c.(208-210)cAt>cGt	p.H70R	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Missense_Mutation_p.H19R|IL7_ENST00000520269.1_Missense_Mutation_p.H70R	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	70					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						ATCACAGATATGTCTTTTAAA	0.274																																						ENST00000263851.4																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(208-210)cAt>cGt		interleukin 7							43.0	45.0	44.0					8																	79652256		2194	4275	6469	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79652256T>C	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.209A>G	8.37:g.79652256T>C	ENSP00000263851:p.His70Arg					IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Missense_Mutation_p.H70R|IL7_ENST00000541183.1_Missense_Mutation_p.H19R	p.H70R	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN			3	809	-			70					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.209A>G	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965768	0.53507	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.47177	0.85;0.85;0.85	5.02	5.02	0.67125	.	0.381500	0.22540	N	0.058737	T	0.51449	0.1675	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.984;0.997	P;P	0.61070	0.883;0.865	T	0.45264	-0.9273	9	.	.	.	.	11.3049	0.49329	0.0:0.0:0.0:1.0	.	70;70	P13232;Q5FBY9	IL7_HUMAN;.	R	70;70;67;19	ENSP00000263851:H70R;ENSP00000427750:H70R;ENSP00000438922:H19R	.	H	-	2	0	IL7	79814811	1.000000	0.71417	0.989000	0.46669	0.580000	0.36256	3.252000	0.51461	2.234000	0.73211	0.460000	0.39030	CAT		0.274	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			21	87	0	0	0	1	0	21	87				
KANK2	25959	broad.mit.edu	37	19	11303618	11303618	+	Missense_Mutation	SNP	G	G	A	rs144821191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303618G>A	ENST00000586659.1	-	4	1452	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	KANK2_ENST00000432929.2_Missense_Mutation_p.R380C|KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000589894.1_Missense_Mutation_p.R380C|KANK2_ENST00000355150.5_Missense_Mutation_p.R380C			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	380					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTGGCTGCGGAACACAGGT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16197	0.0		0.001	False		,,,				2504	0.0					ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1138-1140)Cgc>Tgc		KN motif and ankyrin repeat domains 2		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	74.0	72.0		1138,1138	0.2	1.0	19	dbSNP_134	72	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	KANK2	NM_001136191.2,NM_015493.6	180,180	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	benign,benign	380/852,380/860	11303618	11,12995	2203	4300	6503	SO:0001583	missense	25959							g.chr19:11303618G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1138C>T	19.37:g.11303618G>A	ENSP00000465650:p.Arg380Cys					KANK2_ENST00000589894.1_Missense_Mutation_p.R380C|KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000586659.1_Missense_Mutation_p.R380C|KANK2_ENST00000355150.5_Missense_Mutation_p.R380C	p.R380C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	1498	-			380					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.1138C>T	CCDS12255.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.976	0.550018	0.13374	2.27E-4	0.001163	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37235	1.21;1.21	4.11	0.147	0.14838	.	0.085848	0.43747	D	0.000540	T	0.24774	0.0601	L	0.45581	1.43	0.33354	D	0.571462	B;B;B	0.13145	0.001;0.001;0.007	B;B;B	0.06405	0.002;0.0;0.002	T	0.10474	-1.0628	10	0.37606	T	0.19	-34.2083	5.155	0.15031	0.305:0.0:0.546:0.149	.	380;380;380	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	C	380	ENSP00000395650:R380C;ENSP00000347276:R380C	ENSP00000347276:R380C	R	-	1	0	KANK2	11164618	0.023000	0.18921	0.998000	0.56505	0.366000	0.29705	0.248000	0.18198	0.224000	0.20940	-0.448000	0.05591	CGC		0.642	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		69	307	0	0	0	1	0	69	307				
TAF4	6874	broad.mit.edu	37	20	60581569	60581569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60581569C>T	ENST00000252996.4	-	7	2219	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	740					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCCATACCAGCGGTGTGGGTT	0.657																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2218-2220)ccG>ccA		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							16.0	15.0	15.0					20																	60581569		2168	4249	6417	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581569C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2220G>A	20.37:g.60581569C>T						TAF4_ENST00000488539.1_Intron	p.P740P	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2219	-	Breast(26;1e-08)		740					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.2220G>A	CCDS33500.1																																																																																				0.657	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		9	75	0	0	0	1	0	9	75				
PEG3	5178	broad.mit.edu	37	19	57328690	57328690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328690C>T	ENST00000326441.9	-	10	1483	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	374					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACCTAAAGCCTCCCCTAAAT	0.438																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1120-1122)Ggc>Agc		paternally expressed 3							87.0	89.0	88.0					19																	57328690		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328690C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1120G>A	19.37:g.57328690C>T	ENSP00000326581:p.Gly374Ser					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S|PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|ZIM2_ENST00000599935.1_Intron	p.G374S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1483	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	374					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1120G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013665	0.35511	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02258	4.37;4.37	4.25	3.23	0.37069	.	0.309838	0.23567	N	0.046799	T	0.01661	0.0053	N	0.20986	0.625	.	.	.	B;B;B	0.33528	0.416;0.416;0.379	B;B;B	0.28638	0.092;0.092;0.07	T	0.46400	-0.9194	9	0.17369	T	0.5	-28.0444	10.2656	0.43453	0.0:0.9022:0.0:0.0977	.	250;374;309	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	374;374;344	ENSP00000326581:G374S;ENSP00000403051:G374S	ENSP00000292074:G344S	G	-	1	0	ZIM2	62020502	0.000000	0.05858	0.137000	0.22149	0.844000	0.47949	0.255000	0.18333	1.389000	0.46526	0.655000	0.94253	GGC		0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			117	536	0	0	0	1	0	117	536				
ZNF286A	57335	broad.mit.edu	37	17	15620048	15620048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15620048G>A	ENST00000464847.2	+	5	1563	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ZNF286A_ENST00000583566.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R337Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGTTTTAATCGAAGTACACAT	0.378																																						ENST00000464847.2																			1	Substitution - Missense(1)	p.R337Q(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1009-1011)cGa>cAa		zinc finger protein 286A							59.0	52.0	54.0					17																	15620048		2202	4297	6499	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620048G>A	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1010G>A	17.37:g.15620048G>A	ENSP00000464218:p.Arg337Gln					ZNF286A_ENST00000583566.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q	p.R337Q			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	1563	+			337					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.1010G>A	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	5.552	0.286729	0.10513	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.07444	3.19;3.19	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33290	N	0.005063	T	0.03053	0.0090	N	0.11106	0.095	0.09310	N	1	B	0.33826	0.427	B	0.24006	0.05	T	0.38735	-0.9647	10	0.02654	T	1	-8.8043	9.6418	0.39844	0.0:0.0:0.7918:0.2081	.	337	Q9HBT8	Z286A_HUMAN	Q	337;327;337	ENSP00000397163:R337Q;ENSP00000408168:R327Q	ENSP00000435872:R337Q	R	+	2	0	ZNF286A	15560773	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.266000	0.18534	2.335000	0.79485	0.650000	0.86243	CGA		0.378	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		15	213	0	0	0	1	0	15	213				
STAG1	10274	broad.mit.edu	37	3	136082224	136082224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136082224A>G	ENST00000383202.2	-	26	3027	c.2771T>C	c.(2770-2772)aTt>aCt	p.I924T	STAG1_ENST00000536929.1_Missense_Mutation_p.I508T|STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000434713.2_Intron	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	924					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CAAACTGAGAATGAGAGTCTT	0.358																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2770-2772)aTt>aCt		stromal antigen 1							156.0	149.0	151.0					3																	136082224		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136082224A>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2771T>C	3.37:g.136082224A>G	ENSP00000372689:p.Ile924Thr					STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000536929.1_Missense_Mutation_p.I508T|STAG1_ENST00000434713.2_Intron	p.I924T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			26	3027	-			924					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2771T>C	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144665	0.77888	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000536929	T;T;T	0.33865	1.8;1.83;1.39	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.74881	2.28	0.80722	D	1	D;P	0.63046	0.992;0.786	P;B	0.60949	0.881;0.368	T	0.58482	-0.7629	10	0.42905	T	0.14	.	15.2501	0.73539	1.0:0.0:0.0:0.0	.	924;924	Q6P275;Q8WVM7	.;STAG1_HUMAN	T	924;924;508	ENSP00000372689:I924T;ENSP00000236698:I924T;ENSP00000445787:I508T	ENSP00000236698:I924T	I	-	2	0	STAG1	137564914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.006000	0.58801	0.454000	0.30748	ATT		0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		38	190	0	0	0	1	0	38	190				
CYP46A1	10858	broad.mit.edu	37	14	100187648	100187648	+	Silent	SNP	G	G	A	rs370665505		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100187648G>A	ENST00000261835.3	+	11	1157	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	CYP46A1_ENST00000554176.1_Silent_p.Q198Q|CYP46A1_ENST00000423126.2_Silent_p.Q254Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	351					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGACTGCAGTACCTGTCCC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17685	0.0		0.0	False		,,,				2504	0.0					ENST00000554176.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(592-594)caG>caA		cytochrome P450, family 46, subfamily A, polypeptide 1		G		1,4405	2.1+/-5.4	0,1,2202	135.0	110.0	119.0		1053	4.2	1.0	14		119	0,8600		0,0,4300	no	coding-synonymous	CYP46A1	NM_006668.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		351/501	100187648	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100187648G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1053G>A	14.37:g.100187648G>A						CYP46A1_ENST00000261835.3_Silent_p.Q351Q|CYP46A1_ENST00000423126.2_Silent_p.Q254Q	p.Q198Q			Q9Y6A2	CP46A_HUMAN			6	1260	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	351					B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	37	c.594G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	8.702	0.909957	0.17833	2.27E-4	0.0	ENSG00000036530	ENST00000380228	.	.	.	5.07	4.19	0.49359	.	.	.	.	.	T	0.60418	0.2267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58031	-0.7708	4	.	.	.	.	10.1049	0.42528	0.0931:0.0:0.9069:0.0	.	.	.	.	I	338	.	.	V	+	1	0	CYP46A1	99257401	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	1.296000	0.44742	-0.224000	0.12420	GTA		0.557	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			42	194	0	0	0	1	0	42	194				
KMT2A	4297	broad.mit.edu	37	11	118374332	118374332	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118374332A>G	ENST00000389506.5	+	27	7716	c.7716A>G	c.(7714-7716)caA>caG	p.Q2572Q	KMT2A_ENST00000534358.1_Silent_p.Q2575Q|KMT2A_ENST00000354520.4_Silent_p.Q2534Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2572					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGTGGCCCAACCAAGCCCCA	0.458																																						ENST00000534358.1																			0											c.(7723-7725)caA>caG		lysine (K)-specific methyltransferase 2A							62.0	63.0	62.0					11																	118374332		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118374332A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7716A>G	11.37:g.118374332A>G						KMT2A_ENST00000354520.4_Silent_p.Q2534Q|KMT2A_ENST00000389506.5_Silent_p.Q2572Q	p.Q2575Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	7748	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.7725A>G	CCDS31686.1																																																																																				0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		68	286	0	0	0	1	0	68	286				
SPG11	80208	broad.mit.edu	37	15	44855412	44855412	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44855412C>T	ENST00000261866.7	-	40	7255	c.7239G>A	c.(7237-7239)aaG>aaA	p.K2413K	SPG11_ENST00000427534.2_3'UTR|SPG11_ENST00000535302.2_Silent_p.K2300K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2413					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGTATGCCAACTTGTAATACA	0.363																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(7237-7239)aaG>aaA		spastic paraplegia 11 (autosomal recessive)							133.0	121.0	125.0					15																	44855412		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44855412C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.7239G>A	15.37:g.44855412C>T						SPG11_ENST00000535302.2_Silent_p.K2300K|SPG11_ENST00000427534.2_3'UTR	p.K2413K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	40	7255	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2413					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.7239G>A	CCDS10112.1																																																																																				0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			66	233	0	0	0	1	0	66	233				
AMMECR1L	83607	broad.mit.edu	37	2	128627035	128627035	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128627035C>A	ENST00000272647.5	-	6	977	c.717G>T	c.(715-717)aaG>aaT	p.K239N	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	239	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CACCTTGTTCCTTAGCAACCT	0.408																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(715-717)aaG>aaT		AMMECR1-like							135.0	120.0	125.0					2																	128627035		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128627035C>A		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.717G>T	2.37:g.128627035C>A	ENSP00000272647:p.Lys239Asn					AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	p.K239N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	6	977	-	Colorectal(110;0.1)		239			AMMECR1.		B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.717G>T	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693364	0.48202	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	4.52	0.55395	AMMECR1 domain (2);	0.063723	0.64402	D	0.000005	T	0.58018	0.2093	M	0.63843	1.955	0.51233	D	0.999914	B	0.23540	0.087	B	0.28784	0.094	T	0.53486	-0.8432	9	0.22109	T	0.4	-4.9988	11.3608	0.49642	0.0:0.8541:0.0:0.1459	.	239	Q6DCA0	AMERL_HUMAN	N	239	.	ENSP00000272647:K239N	K	-	3	2	AMMECR1L	128343505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.779000	0.55379	1.422000	0.47177	0.650000	0.86243	AAG		0.408	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		112	333	1	0	1.25929e-39	1	1.52335e-39	112	333				
SNX16	64089	broad.mit.edu	37	8	82714673	82714673	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82714673G>A	ENST00000345957.4	-	7	1158	c.880C>T	c.(880-882)Cta>Tta	p.L294L	SNX16_ENST00000396330.2_Silent_p.L294L|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000353788.4_Silent_p.L265L	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	294					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TCCACCTTTAGGATCTGTTCA	0.338																																						ENST00000396330.2																			0				large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						c.(880-882)Cta>Tta		sorting nexin 16							107.0	103.0	104.0					8																	82714673		2203	4300	6503	SO:0001819	synonymous_variant	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82714673G>A	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.880C>T	8.37:g.82714673G>A						SNX16_ENST00000353788.4_Silent_p.L265L|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000345957.4_Silent_p.L294L	p.L294L	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN			8	1386	-			294					A8K4D8|Q658L0|Q8N4U3	Silent	SNP	ENST00000345957.4	37	c.880C>T	CCDS6234.1																																																																																				0.338	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		6	196	0	0	0	1	0	6	196				
ARHGEF18	23370	broad.mit.edu	37	19	7506797	7506797	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7506797G>T	ENST00000359920.6	+	3	908		c.e3-1		ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCTTCCCTCAGATCCCTACAC	0.617																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.e3-1		Rho/Rac guanine nucleotide exchange factor (GEF) 18							123.0	128.0	126.0					19																	7506797		2203	4300	6503	SO:0001630	splice_region_variant	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7506797G>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.656-1G>T	19.37:g.7506797G>T						ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site		NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			3	908	+		Renal(5;0.0902)						A8MV62|B5ME81|O60274|Q6DD92	Splice_Site	SNP	ENST00000359920.6	37		CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872133	0.33069	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9733	0.71251	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF18	7412797	1.000000	0.71417	0.971000	0.41717	0.085000	0.17905	8.881000	0.92415	2.612000	0.88384	0.505000	0.49811	.		0.617	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	Intron	57	1181	1	0	9.73076e-26	1	1.11809e-25	57	1181				
GGT7	2686	broad.mit.edu	37	20	33450737	33450737	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33450737G>T	ENST00000336431.5	-	3	481	c.437C>A	c.(436-438)gCt>gAt	p.A146D		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	146					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCAGCGGGCAGCATCGGTCAC	0.617																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(436-438)gCt>gAt		gamma-glutamyltransferase 7							53.0	39.0	44.0					20																	33450737		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33450737G>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.437C>A	20.37:g.33450737G>T	ENSP00000338964:p.Ala146Asp						p.A146D	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			3	481	-			146					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.437C>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	g	13.54	2.268618	0.40095	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.21031	2.03;2.03	5.47	4.53	0.55603	.	0.123215	0.53938	D	0.000045	T	0.30696	0.0773	L	0.31207	0.915	0.51233	D	0.999915	D;D;D	0.71674	0.997;0.998;0.994	D;P;P	0.64410	0.925;0.889;0.844	T	0.02333	-1.1175	10	0.28530	T	0.3	-14.157	14.2309	0.65892	0.0713:0.0:0.9287:0.0	.	146;146;146	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	D	146;163	ENSP00000338964:A146D;ENSP00000394993:A163D	ENSP00000338964:A146D	A	-	2	0	GGT7	32914398	1.000000	0.71417	0.853000	0.33588	0.259000	0.26198	5.058000	0.64300	1.319000	0.45190	-0.141000	0.14075	GCT		0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		7	146	1	0	1.06961e-07	1	1.11297e-07	7	146				
ZNF785	146540	broad.mit.edu	37	16	30594073	30594073	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30594073G>A	ENST00000395216.2	-	3	1185	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.C327C|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACACTCCACGCAGGGGAAGG	0.667																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1024-1026)tgC>tgT		zinc finger protein 785							50.0	55.0	53.0					16																	30594073		2197	4300	6497	SO:0001819	synonymous_variant	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594073G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1026C>T	16.37:g.30594073G>A						AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.C327C	p.C342C	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	1185	-			342					O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	c.1026C>T	CCDS10685.1																																																																																				0.667	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		79	388	0	0	0	1	0	79	388				
PCSK6	5046	broad.mit.edu	37	15	101905197	101905197	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101905197A>G	ENST00000331826.7	-	12	1412	c.1413T>C	c.(1411-1413)gtT>gtC	p.V471V	PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000344273.2_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000398181.2_Intron			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	0	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			agagtgtggaaacgaacctct	0.393																																						ENST00000331826.7																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1411-1413)gtT>gtC		proprotein convertase subtilisin/kexin type 6							108.0	109.0	108.0					15																	101905197		1891	4119	6010	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101905197A>G		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000331826.7:c.1413T>C	15.37:g.101905197A>G						PCSK6_ENST00000344273.2_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000398181.2_Intron	p.V471V			P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		12	1412	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		0					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000331826.7	37	c.1413T>C																																																																																					0.393	PCSK6-201	KNOWN	basic	protein_coding	protein_coding		NM_002570		5	112	0	0	0	1	0	5	112				
SLC24A4	123041	broad.mit.edu	37	14	92790300	92790300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92790300C>A	ENST00000532405.1	+	1	352	c.126C>A	c.(124-126)agC>agA	p.S42R	SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R|SLC24A4_ENST00000393265.2_Intron			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	42					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCTTCGGCAGCTTGGGTGGGT	0.657																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(124-126)agC>agA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							44.0	44.0	44.0					14																	92790300		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92790300C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.126C>A	14.37:g.92790300C>A	ENSP00000431840:p.Ser42Arg					SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R	p.S42R			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	1	352	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	42					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.126C>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340847	0.24339	.	.	ENSG00000140090	ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T	0.68181	0.11;0.11;-0.31;-0.31	4.09	2.23	0.28157	.	0.294941	0.36932	N	0.002328	T	0.35799	0.0944	N	0.08118	0	0.22926	N	0.998557	B;B	0.33583	0.418;0.399	B;B	0.30943	0.122;0.065	T	0.17258	-1.0375	10	0.15499	T	0.54	.	4.3481	0.11143	0.0:0.6001:0.1879:0.212	.	42;42	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	R	42;42;25;25	ENSP00000433302:S42R;ENSP00000431840:S42R;ENSP00000298877:S25R;ENSP00000337789:S25R	ENSP00000298877:S25R	S	+	3	2	SLC24A4	91860053	0.999000	0.42202	0.941000	0.38009	0.669000	0.39330	0.380000	0.20602	0.378000	0.24764	0.462000	0.41574	AGC		0.657	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		22	117	1	0	7.92952e-12	1	8.47903e-12	22	117				
SARDH	1757	broad.mit.edu	37	9	136531866	136531866	+	Silent	SNP	G	G	A	rs201450596	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136531866G>A	ENST00000371872.4	-	20	2879	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371868.1_Silent_p.S324S|SARDH_ENST00000422262.2_Silent_p.S706S|SARDH_ENST00000439388.1_Silent_p.S874S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	874					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGGCCCACCGCTGGGGTCAT	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		16223	0.0		0.002	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2620-2622)agC>agT		sarcosine dehydrogenase							70.0	50.0	57.0					9																	136531866		2194	4294	6488	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136531866G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2622C>T	9.37:g.136531866G>A						SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000422262.2_Silent_p.S706S|SARDH_ENST00000371868.1_Silent_p.S324S|SARDH_ENST00000439388.1_Silent_p.S874S	p.S874S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	20	2879	-			874					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.2622C>T	CCDS6978.1																																																																																				0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			7	39	0	0	0	1	0	7	39				
DCLK1	9201	broad.mit.edu	37	13	36424911	36424911	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36424911G>A	ENST00000360631.3	-	6	1247				DCLK1_ENST00000255448.4_Intron|DCLK1_ENST00000379892.4_Silent_p.D346D|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379893.1_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1						axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCGGTACAGGTCCTGCAAGA	0.483																																						ENST00000379892.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1036-1038)gaC>gaT		doublecortin-like kinase 1							104.0	100.0	102.0					13																	36424911		876	1991	2867	SO:0001627	intron_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36424911G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1035+3724C>T	13.37:g.36424911G>A						DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000255448.4_Intron|DCLK1_ENST00000379893.1_Intron	p.D346D			O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	7	1249	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	346					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.1038C>T																																																																																					0.483	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		37	225	0	0	0	1	0	37	225				
CUL7	9820	broad.mit.edu	37	6	43017878	43017878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43017878C>T	ENST00000265348.3	-	6	1477	c.1392G>A	c.(1390-1392)tgG>tgA	p.W464*	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Nonsense_Mutation_p.W548*			Q14999	CUL7_HUMAN	cullin 7	464					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCATGGGCCTCCAGCGCCAGG	0.577																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1642-1644)tgG>tgA		cullin 7							108.0	99.0	102.0					6																	43017878		2203	4300	6503	SO:0001587	stop_gained	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43017878C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1392G>A	6.37:g.43017878C>T	ENSP00000265348:p.Trp464*					CUL7_ENST00000265348.3_Nonsense_Mutation_p.W464*	p.W548*	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	1730	-			464					B4DYZ0|F5H0L1|Q5T654	Nonsense_Mutation	SNP	ENST00000265348.3	37	c.1644G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	37	6.253305	0.97417	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.12	5.12	0.69794	.	0.258920	0.41097	D	0.000948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9001	13.3299	0.60480	0.0:0.7068:0.2932:0.0	.	.	.	.	X	464;548	.	ENSP00000265348:W464X	W	-	3	0	CUL7	43125856	.	.	1.000000	0.80357	0.637000	0.38172	.	.	2.395000	0.81488	0.655000	0.94253	TGG		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		24	530	0	0	0	1	0	24	530				
NRROS	375387	broad.mit.edu	37	3	196388376	196388376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196388376G>A	ENST00000328557.4	+	3	2065	c.1862G>A	c.(1861-1863)tGc>tAc	p.C621Y		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	621					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ATGGTCACCTGCAACCTCTCC	0.642																																						ENST00000328557.4																			0											c.(1861-1863)tGc>tAc		negative regulator of reactive oxygen species							76.0	81.0	79.0					3																	196388376		2203	4299	6502	SO:0001583	missense	375387							g.chr3:196388376G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1862G>A	3.37:g.196388376G>A	ENSP00000328625:p.Cys621Tyr						p.C621Y	NM_198565.1	NP_940967.1					3	2065	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1862G>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502274	0.44455	.	.	ENSG00000174004	ENST00000328557	T	0.63913	-0.07	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.79855	-0.1627	10	0.72032	D	0.01	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	621	Q86YC3	LRC33_HUMAN	Y	621	ENSP00000328625:C621Y	ENSP00000328625:C621Y	C	+	2	0	LRRC33	197872773	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	7.161000	0.77505	2.836000	0.97738	0.655000	0.94253	TGC		0.642	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		26	574	0	0	0	1	0	26	574				
MMP24	10893	broad.mit.edu	37	20	33834760	33834760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33834760G>T	ENST00000246186.6	+	2	449	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	122					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CGGGATCCCGGTCACCGGTGT	0.507																																						ENST00000246186.6																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(364-366)Gtc>Ttc		matrix metallopeptidase 24 (membrane-inserted)							118.0	115.0	116.0					20																	33834760		2045	4192	6237	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33834760G>T	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.364G>T	20.37:g.33834760G>T	ENSP00000246186:p.Val122Phe					MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron	p.V122F	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	449	+			122					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.364G>T	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295962	0.95574	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.47177	0.85	5.5	5.5	0.81552	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.91818	3.245	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	T	0.80688	-0.1271	10	0.72032	D	0.01	.	18.5657	0.91115	0.0:0.0:1.0:0.0	.	122	Q9Y5R2	MMP24_HUMAN	F	122;70	ENSP00000246186:V122F	ENSP00000246186:V122F	V	+	1	0	MMP24	33298176	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.756000	0.85195	2.864000	0.98301	0.551000	0.68910	GTC		0.507	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		66	331	1	0	2.17656e-39	1	2.63193e-39	66	331				
IL10RA	3587	broad.mit.edu	37	11	117869470	117869470	+	Missense_Mutation	SNP	G	G	A	rs576666901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117869470G>A	ENST00000227752.3	+	7	971	c.851G>A	c.(850-852)cGt>cAt	p.R284H	IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H|IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	284					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCAGCCAGCGTCCCTCCCCA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19221	0.002		0.0	False		,,,				2504	0.0					ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(850-852)cGt>cAt		interleukin 10 receptor, alpha							90.0	73.0	79.0					11																	117869470		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117869470G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.851G>A	11.37:g.117869470G>A	ENSP00000227752:p.Arg284His					IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H|IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H	p.R284H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	971	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	284					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.851G>A	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152097	0.21371	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.24538	1.85;1.85;1.85	5.26	-3.16	0.05217	.	4.015810	0.00166	N	0.000015	T	0.15046	0.0363	N	0.22421	0.69	0.09310	N	1	D;D	0.57571	0.98;0.965	P;B	0.44597	0.454;0.266	T	0.21314	-1.0249	10	0.15499	T	0.54	-0.0195	1.5109	0.02496	0.1162:0.2378:0.2516:0.3945	.	264;284	F5GYV8;Q13651	.;I10R1_HUMAN	H	284;264;135;264	ENSP00000227752:R284H;ENSP00000441397:R264H;ENSP00000443019:R135H	ENSP00000227752:R284H	R	+	2	0	IL10RA	117374680	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-1.174000	0.03105	-0.149000	0.11215	-0.457000	0.05445	CGT		0.582	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			52	247	0	0	0	1	0	52	247				
TMEM55B	90809	broad.mit.edu	37	14	20928928	20928928	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20928928G>A	ENST00000250489.4	-	2	505	c.219C>T	c.(217-219)agC>agT	p.S73S	TMEM55B_ENST00000398020.4_Silent_p.S80S|TMEM55B_ENST00000554028.1_5'Flank			Q86T03	TM55B_HUMAN	transmembrane protein 55B	73	Pro-rich.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CACTGTCCGGGCTAGTTAAGG	0.562																																						ENST00000250489.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11						c.(217-219)agC>agT		transmembrane protein 55B							111.0	108.0	109.0					14																	20928928		2203	4300	6503	SO:0001819	synonymous_variant	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20928928G>A	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.219C>T	14.37:g.20928928G>A						TMEM55B_ENST00000398020.4_Silent_p.S80S	p.S73S			Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	505	-	all_cancers(95;0.00123)	all_lung(585;0.235)	73			Pro-rich.		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Silent	SNP	ENST00000250489.4	37	c.219C>T	CCDS9551.1																																																																																				0.562	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	NM_144568		15	593	0	0	0	1	0	15	593				
CNTN2	6900	broad.mit.edu	37	1	205034326	205034326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205034326G>A	ENST00000331830.4	+	13	1915	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	544	Ig-like C2-type 6.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTTCACCTGGACCCTGGAC	0.582																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1630-1632)tGg>tAg		contactin 2 (axonal)							188.0	165.0	173.0					1																	205034326		2203	4300	6503	SO:0001587	stop_gained	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205034326G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1631G>A	1.37:g.205034326G>A	ENSP00000330633:p.Trp544*						p.W544*	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		13	1915	+	all_cancers(21;0.144)|Breast(84;0.0437)		544			Ig-like C2-type 6.		P78432|Q5T054	Nonsense_Mutation	SNP	ENST00000331830.4	37	c.1631G>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	43	9.923856	0.99297	.	.	ENSG00000184144	ENST00000331830	.	.	.	5.71	5.71	0.89125	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4451	0.94843	0.0:0.0:1.0:0.0	.	.	.	.	X	544	.	ENSP00000330633:W544X	W	+	2	0	CNTN2	203300949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.697000	0.92050	0.563000	0.77884	TGG		0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		203	526	0	0	0	1	0	203	526				
KMT2C	58508	broad.mit.edu	37	7	151878668	151878668	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878668G>T	ENST00000262189.6	-	36	6495	c.6277C>A	c.(6277-6279)Cca>Aca	p.P2093T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2093T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2093	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGACTATATGGATCATTTGAC	0.453																																						ENST00000355193.2																			0											c.(6277-6279)Cca>Aca		lysine (K)-specific methyltransferase 2C							84.0	84.0	84.0					7																	151878668		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878668G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6277C>A	7.37:g.151878668G>T	ENSP00000262189:p.Pro2093Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.P2093T	p.P2093T							36	6495	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6277C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111237	0.37242	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.55052	0.54;0.54	5.62	5.62	0.85841	.	0.000000	0.44688	D	0.000429	T	0.72755	0.3500	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.961;0.998	P;D	0.66351	0.617;0.943	T	0.73145	-0.4075	10	0.51188	T	0.08	.	19.6753	0.95930	0.0:0.0:1.0:0.0	.	2093;1154	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2093	ENSP00000262189:P2093T;ENSP00000347325:P2093T	ENSP00000262189:P2093T	P	-	1	0	MLL3	151509601	1.000000	0.71417	0.594000	0.28785	0.643000	0.38383	3.899000	0.56288	2.648000	0.89879	0.563000	0.77884	CCA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			58	230	1	0	2.48254e-18	1	2.75398e-18	58	230				
CECR2	27443	broad.mit.edu	37	22	18022140	18022140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022140C>T	ENST00000400585.2	+	16	2257	c.1819C>T	c.(1819-1821)Cac>Tac	p.H607Y	CECR2_ENST00000400573.5_Missense_Mutation_p.H748Y|CECR2_ENST00000262608.8_Missense_Mutation_p.H749Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	790					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAATCGAGTACACTCTGCCGT	0.592																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2245-2247)Cac>Tac		cat eye syndrome chromosome region, candidate 2							38.0	41.0	40.0					22																	18022140		1941	4135	6076	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022140C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1819C>T	22.37:g.18022140C>T	ENSP00000383428:p.His607Tyr					CECR2_ENST00000400585.2_Missense_Mutation_p.H607Y|CECR2_ENST00000400573.4_Missense_Mutation_p.H748Y	p.H749Y	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2245	+		all_epithelial(15;0.139)	790					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2245C>T		.	.	.	.	.	.	.	.	.	.	C	16.69	3.191860	0.58017	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.28454	1.73;1.72;1.61	5.29	5.29	0.74685	.	0.219710	0.31847	N	0.006966	T	0.33323	0.0859	M	0.62723	1.935	0.41284	D	0.986931	P;P;P	0.46395	0.877;0.8;0.8	B;B;B	0.37943	0.261;0.261;0.261	T	0.36841	-0.9731	10	0.87932	D	0	-16.3606	17.289	0.87150	0.0:1.0:0.0:0.0	.	790;607;748	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	607;748;749	ENSP00000383428:H607Y;ENSP00000383417:H748Y;ENSP00000262608:H749Y	ENSP00000262608:H749Y	H	+	1	0	CECR2	16402140	0.957000	0.32711	0.998000	0.56505	0.908000	0.53690	2.757000	0.47557	2.756000	0.94617	0.561000	0.74099	CAC		0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		45	189	0	0	0	1	0	45	189				
GSTO2	119391	broad.mit.edu	37	10	106058905	106058905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106058905G>A	ENST00000338595.2	+	7	915	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	GSTO2_ENST00000369707.2_Missense_Mutation_p.A171T|GSTO2_ENST00000450629.2_Missense_Mutation_p.A165T|GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	199	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	CCACACGCCAGCCCTGCGGCT	0.512																																						ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(493-495)Gcc>Acc		glutathione S-transferase omega 2	Glutathione(DB00143)						82.0	80.0	81.0					10																	106058905		2203	4300	6503	SO:0001583	missense	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106058905G>A	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.595G>A	10.37:g.106058905G>A	ENSP00000345023:p.Ala199Thr					GSTO2_ENST00000369707.1_Missense_Mutation_p.A171T|GSTO2_ENST00000338595.2_Missense_Mutation_p.A199T|GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N	p.A165T	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	6	1121	+		Colorectal(252;0.178)	199			GST C-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.493G>A	CCDS7556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.23|11.23	1.578633|1.578633	0.28180|0.28180	.|.	.|.	ENSG00000065621|ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707|ENST00000429569	D;T;D|T	0.93712|0.13657	-3.27;2.54;-3.27|2.57	6.04|6.04	-0.589|-0.589	0.11683|0.11683	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.711447|.	0.15275|.	N|.	0.271039|.	T|T	0.06735|0.06735	0.0172|0.0172	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.17465	0.0;0.0|0.022	B;B|B	0.04013|0.11329	0.001;0.001|0.006	T|T	0.43940|0.43940	-0.9360|-0.9360	10|9	0.32370|0.09843	T|T	0.25|0.71	-0.508|-0.508	3.077|3.077	0.06249|0.06249	0.416:0.0:0.2755:0.3085|0.416:0.0:0.2755:0.3085	.|.	165;199|101	B4DJW6;Q9H4Y5|B4DML4	.;GSTO2_HUMAN|.	T|N	199;199;165;171|101	ENSP00000345023:A199T;ENSP00000390986:A165T;ENSP00000358721:A171T|ENSP00000407381:S101N	ENSP00000345023:A199T|ENSP00000407381:S101N	A|S	+|+	1|2	0|0	GSTO2|GSTO2	106048895|106048895	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.866000|0.866000	0.49608|0.49608	0.981000|0.981000	0.29526|0.29526	-0.050000|-0.050000	0.13356|0.13356	0.563000|0.563000	0.77884|0.77884	GCC|AGC		0.512	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		70	350	0	0	0	1	0	70	350				
ITPR3	3710	broad.mit.edu	37	6	33656032	33656032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33656032G>A	ENST00000374316.5	+	49	7452	c.6392G>A	c.(6391-6393)cGc>cAc	p.R2131H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2131					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGGCAGGACCGCAGCATGGAG	0.652																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6391-6393)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							113.0	98.0	104.0					6																	33656032		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656032G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6392G>A	6.37:g.33656032G>A	ENSP00000363435:p.Arg2131His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H	p.R2131H			Q14573	ITPR3_HUMAN			49	7452	+			2131					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6392G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562243	0.96527	.	.	ENSG00000096433	ENST00000374316	D	0.92545	-3.06	5.53	5.53	0.82687	.	0.115345	0.64402	D	0.000010	D	0.94915	0.8356	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.67725	0.953;0.656	D	0.94548	0.7751	10	0.56958	D	0.05	-27.8597	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2131;1801	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2131	ENSP00000363435:R2131H	ENSP00000363435:R2131H	R	+	2	0	ITPR3	33764010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.854000	0.99522	2.594000	0.87642	0.650000	0.86243	CGC		0.652	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		87	453	0	0	0	1	0	87	453				
SPTA1	6708	broad.mit.edu	37	1	158650471	158650471	+	Missense_Mutation	SNP	C	C	T	rs367689703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158650471C>T	ENST00000368147.4	-	5	760	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	194					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCAGAACTTCGGTGCGCTCC	0.463																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(580-582)Gaa>Aaa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	LYS/GLU	1,3769		0,1,1884	118.0	115.0	116.0		580	5.1	1.0	1		116	0,8248		0,0,4124	no	missense	SPTA1	NM_003126.2	56	0,1,6008	TT,TC,CC		0.0,0.0265,0.0083	probably-damaging	194/2420	158650471	1,12017	1885	4124	6009	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650471C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.580G>A	1.37:g.158650471C>T	ENSP00000357129:p.Glu194Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.E194K	p.E194K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			5	760	-	all_hematologic(112;0.0378)		194					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.580G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675462	0.88445	2.65E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	5.07	5.07	0.68467	.	0.000000	0.32459	N	0.006061	T	0.67154	0.2863	M	0.87038	2.855	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.69720	-0.5069	10	0.45353	T	0.12	.	17.2088	0.86925	0.0:1.0:0.0:0.0	.	194	P02549	SPTA1_HUMAN	K	194	ENSP00000357130:E194K;ENSP00000357129:E194K	ENSP00000357129:E194K	E	-	1	0	SPTA1	156917095	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.350000	0.66016	2.627000	0.88993	0.650000	0.86243	GAA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		136	382	0	0	0	1	0	136	382				
MYLK4	340156	broad.mit.edu	37	6	2685594	2685594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2685594C>T	ENST00000274643.7	-	6	823	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATGAGGTTCGCGTGGTCCAGC	0.572																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(481-483)Gcg>Acg		myosin light chain kinase family, member 4							260.0	195.0	217.0					6																	2685594		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2685594C>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.481G>A	6.37:g.2685594C>T	ENSP00000274643:p.Ala161Thr					MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	p.A161T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			6	823	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	161			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.481G>A	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724036	0.68959	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.39229	1.09;1.09	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170767	0.27451	N	0.019319	T	0.18551	0.0445	N	0.25426	0.745	0.32308	N	0.564091	P	0.40302	0.712	B	0.32465	0.146	T	0.11324	-1.0592	10	0.48119	T	0.1	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	161	Q86YV6	MYLK4_HUMAN	T	161	ENSP00000268446:A161T;ENSP00000274643:A161T	ENSP00000268446:A161T	A	-	1	0	MYLK4	2630593	1.000000	0.71417	0.953000	0.39169	0.715000	0.41141	4.968000	0.63728	2.649000	0.89929	0.603000	0.83216	GCG		0.572	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		149	734	0	0	0	1	0	149	734				
BPIFB6	128859	broad.mit.edu	37	20	31627288	31627288	+	Missense_Mutation	SNP	C	C	T	rs550355845		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31627288C>T	ENST00000349552.1	+	10	1036	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	346						extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCTCGGTGGCGGAGCAAGGC	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20239	0.0		0.0	False		,,,				2504	0.0					ENST00000349552.1																			0											c.(1036-1038)Cgg>Tgg		BPI fold containing family B, member 6							107.0	114.0	111.0					20																	31627288		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31627288C>T	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1036C>T	20.37:g.31627288C>T	ENSP00000344929:p.Arg346Trp						p.R346W	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			10	1036	+			346						Missense_Mutation	SNP	ENST00000349552.1	37	c.1036C>T	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017659	0.35606	.	.	ENSG00000167104	ENST00000349552	T	0.07444	3.19	4.21	0.996	0.19844	.	1.381150	0.04935	N	0.457659	T	0.26231	0.0640	M	0.63428	1.95	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.30149	-0.9988	10	0.72032	D	0.01	.	11.4879	0.50365	0.4903:0.5097:0.0:0.0	.	346	Q8NFQ5	BPIB6_HUMAN	W	346	ENSP00000344929:R346W	ENSP00000344929:R346W	R	+	1	2	BPIFB6	31090949	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	1.131000	0.31406	-0.207000	0.10187	-1.473000	0.01005	CGG		0.532	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		123	592	0	0	0	1	0	123	592				
BEGAIN	57596	broad.mit.edu	37	14	101005511	101005511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101005511C>T	ENST00000355173.2	-	7	648	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	BEGAIN_ENST00000443071.2_Missense_Mutation_p.A193T|BEGAIN_ENST00000556751.1_Missense_Mutation_p.A129T|CTD-2062F14.3_ENST00000553301.1_lincRNA	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	193						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GACAGGCTGGCGGGGTCCGGC	0.706																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(385-387)Gcc>Acc		brain-enriched guanylate kinase-associated							16.0	20.0	19.0					14																	101005511		2193	4295	6488	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101005511C>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.577G>A	14.37:g.101005511C>T	ENSP00000347301:p.Ala193Thr					BEGAIN_ENST00000355173.2_Missense_Mutation_p.A193T|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A193T	p.A129T			Q9BUH8	BEGIN_HUMAN			5	3789	-		Melanoma(154;0.212)	193					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.385G>A	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848007	0.00568	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000554356	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	3.97	-2.36	0.06663	.	1.172930	0.05986	N	0.645139	T	0.11367	0.0277	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38156	-0.9674	10	0.06891	T	0.86	.	9.0452	0.36343	0.0:0.4358:0.1:0.4642	.	193	Q9BUH8	BEGIN_HUMAN	T	193;129;193;205;193;129	ENSP00000347301:A193T;ENSP00000451380:A129T;ENSP00000411124:A193T;ENSP00000451397:A205T;ENSP00000452157:A193T;ENSP00000452607:A129T	ENSP00000347301:A193T	A	-	1	0	BEGAIN	100075264	0.000000	0.05858	0.008000	0.14137	0.019000	0.09904	-0.207000	0.09384	-0.795000	0.04462	-3.145000	0.00059	GCC		0.706	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		10	109	0	0	0	1	0	10	109				
KIF22	3835	broad.mit.edu	37	16	29809753	29809753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29809753C>T	ENST00000160827.4	+	3	365	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*|KIF22_ENST00000561482.1_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	109	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGTTCAGTGCAGCCCATCCT	0.517																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(121-123)Cag>Tag		kinesin family member 22							141.0	123.0	129.0					16																	29809753		2197	4300	6497	SO:0001587	stop_gained	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29809753C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.325C>T	16.37:g.29809753C>T	ENSP00000160827:p.Gln109*					KIF22_ENST00000160827.4_Nonsense_Mutation_p.Q109*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*	p.Q41*	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			3	758	+			109			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Nonsense_Mutation	SNP	ENST00000160827.4	37	c.121C>T	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235056	0.98719	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.1845	0.48648	0.0:0.917:0.0:0.083	.	.	.	.	X	109;41	.	ENSP00000160827:Q109X	Q	+	1	0	KIF22	29717254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.063000	0.57499	2.819000	0.97034	0.655000	0.94253	CAG		0.517	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			92	379	0	0	0	1	0	92	379				
GPR155	151556	broad.mit.edu	37	2	175300962	175300962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175300962C>T	ENST00000392552.2	-	16	2733	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000392551.2_Missense_Mutation_p.R832K|GPR155_ENST00000295500.4_Missense_Mutation_p.R832K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	832	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTGAAGAAATCTGTAAAACAA	0.433																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(2494-2496)aGa>aAa		G protein-coupled receptor 155							141.0	146.0	144.0					2																	175300962		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175300962C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2495G>A	2.37:g.175300962C>T	ENSP00000376335:p.Arg832Lys					GPR155_ENST00000392551.2_Missense_Mutation_p.R832K|GPR155_ENST00000295500.4_Missense_Mutation_p.R832K	p.R832K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			16	2733	-			832			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2495G>A	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500226	0.85176	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.26518	1.73;1.73;1.73	6.17	6.17	0.99709	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.107097	0.64402	D	0.000005	T	0.48333	0.1494	M	0.78223	2.4	0.58432	D	0.999997	D	0.58268	0.982	P	0.54401	0.751	T	0.23655	-1.0182	10	0.35671	T	0.21	-20.6633	20.8794	0.99867	0.0:1.0:0.0:0.0	.	832	Q7Z3F1	GP155_HUMAN	K	832	ENSP00000376335:R832K;ENSP00000376334:R832K;ENSP00000295500:R832K	ENSP00000295500:R832K	R	-	2	0	GPR155	175009208	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.623000	0.74238	2.941000	0.99782	0.655000	0.94253	AGA		0.433	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		160	770	0	0	0	1	0	160	770				
HUS1	3364	broad.mit.edu	37	7	48018022	48018022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48018022C>T	ENST00000258774.5	-	3	372	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	117					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ACCAGCTCCACGGAGACCGTG	0.443								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(349-351)Gtg>Atg	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							71.0	66.0	68.0					7																	48018022		2203	4300	6503	SO:0001583	missense	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48018022C>T	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.349G>A	7.37:g.48018022C>T	ENSP00000258774:p.Val117Met					HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	p.V117M	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN			3	372	-		Breast(660;0.00139)	117					B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	c.349G>A	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757039	0.49468	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.31	-0.114	0.13564	.	0.364925	0.30869	N	0.008711	T	0.15392	0.0371	M	0.69823	2.125	0.23598	N	0.997329	D	0.56287	0.975	P	0.53760	0.734	T	0.22941	-1.0202	10	0.14252	T	0.57	-8.5017	5.1699	0.15105	0.0:0.4099:0.2794:0.3107	.	117	O60921	HUS1_HUMAN	M	117;96;96;96	ENSP00000258774:V117M;ENSP00000416588:V96M;ENSP00000404855:V96M;ENSP00000398806:V96M	ENSP00000258774:V117M	V	-	1	0	HUS1	47984547	0.981000	0.34729	0.011000	0.14972	0.489000	0.33432	2.449000	0.44935	-0.345000	0.08325	0.655000	0.94253	GTG		0.443	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		51	237	0	0	0	1	0	51	237				
ZNF619	285267	broad.mit.edu	37	3	40529531	40529531	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40529531C>T	ENST00000314686.5	+	6	1887	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	ZNF619_ENST00000522736.1_Silent_p.C501C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000521353.1_Silent_p.C550C|ZNF619_ENST00000432264.2_Silent_p.C510C|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000447116.2_Silent_p.C550C			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACATACCTGCTCTGCCCTAG	0.547																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1648-1650)tgC>tgT		zinc finger protein 619							146.0	102.0	117.0					3																	40529531		2203	4300	6503	SO:0001819	synonymous_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529531C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1482C>T	3.37:g.40529531C>T						ZNF619_ENST00000432264.2_Silent_p.C510C|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.C501C|ZNF619_ENST00000314686.5_Silent_p.C494C|ZNF619_ENST00000521353.1_Silent_p.C550C	p.C550C	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1957	+			550					B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37	c.1650C>T																																																																																					0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		53	257	0	0	0	1	0	53	257				
ARF5	381	broad.mit.edu	37	7	127230185	127230185	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127230185G>A	ENST00000000233.5	+	4	478	c.324G>A	c.(322-324)caG>caA	p.Q108Q	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	108					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ATGAACTCCAGAAGATGGTGA	0.542																																						ENST00000000233.5																			0				cervix(2)|kidney(1)|lung(10)|ovary(1)	14						c.(322-324)caG>caA		ADP-ribosylation factor 5							106.0	108.0	107.0					7																	127230185		2203	4300	6503	SO:0001819	synonymous_variant	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127230185G>A		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.324G>A	7.37:g.127230185G>A						GCC1_ENST00000497650.1_Intron	p.Q108Q	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN			4	478	+			108					P26437	Silent	SNP	ENST00000000233.5	37	c.324G>A	CCDS34745.1																																																																																				0.542	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		72	360	0	0	0	1	0	72	360				
STOX2	56977	broad.mit.edu	37	4	184922582	184922582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184922582C>T	ENST00000308497.4	+	2	1706	c.271C>T	c.(271-273)Cct>Tct	p.P91S	STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	91					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGCAAGAAAGCCTGTCACCCA	0.547																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(271-273)Cct>Tct		storkhead box 2							82.0	79.0	80.0					4																	184922582		2062	4220	6282	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184922582C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.271C>T	4.37:g.184922582C>T	ENSP00000311257:p.Pro91Ser					STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	p.P91S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	2	1706	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	91					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.271C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355539	0.61293	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.75050	-0.9;-0.9;-0.9	5.93	5.93	0.95920	Storkhead-box protein, winged-helix domain (1);	0.055947	0.64402	D	0.000001	T	0.58623	0.2135	N	0.05124	-0.11	0.80722	D	1	B	0.31705	0.336	B	0.34093	0.175	T	0.56498	-0.7969	9	.	.	.	-16.65	20.3539	0.98825	0.0:1.0:0.0:0.0	.	91	Q9P2F5	STOX2_HUMAN	S	91;91;29	ENSP00000311257:P91S;ENSP00000390127:P91S;ENSP00000425388:P29S	.	P	+	1	0	STOX2	185159576	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.554000	0.45845	2.826000	0.97356	0.655000	0.94253	CCT		0.547	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		18	144	0	0	0	1	0	18	144				
OBSCN	84033	broad.mit.edu	37	1	228444434	228444434	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228444434C>T	ENST00000422127.1	+	15	4436	c.4392C>T	c.(4390-4392)tgC>tgT	p.C1464C	OBSCN_ENST00000570156.2_Silent_p.C1556C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1464	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTCAGCTGCGAGGTGGCTC	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4666-4668)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							45.0	45.0	45.0					1																	228444434		2042	4171	6213	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444434C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4392C>T	1.37:g.228444434C>T						OBSCN_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000422127.1_Silent_p.C1464C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.C1556C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4742	+		Prostate(94;0.0405)	533			Ig-like 16.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4668C>T	CCDS58065.1																																																																																				0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	309	0	0	0	1	0	14	309				
HEBP1	50865	broad.mit.edu	37	12	13154746	13154746	+	5'Flank	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13154746T>C	ENST00000014930.4	-	0	0				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGGTGGTATCTCCGTGTGCTT	0.607																																						ENST00000543321.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:13154746T>C	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13154746T>C	Exception_encountered					HTR7P1_ENST00000535469.1_RNA								0	31	+								A8K1G2|Q9Y5Z5	RNA	SNP	ENST00000014930.4	37		CCDS31749.1																																																																																				0.607	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			7	69	0	0	0	1	0	7	69				
FBLN1	2192	broad.mit.edu	37	22	45946495	45946495	+	Splice_Site	SNP	C	C	T	rs151076402	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45946495C>T	ENST00000327858.6	+	14	1792	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	FBLN1_ENST00000348697.2_Splice_Site_p.T566M|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Splice_Site_p.T566I|FBLN1_ENST00000340923.5_Splice_Site_p.T566I|FBLN1_ENST00000402984.3_Splice_Site_p.T604I|FBLN1_ENST00000442170.2_Splice_Site_p.T566M	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	566	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCGCAGCCACGTAAGTCCCT	0.612													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		21109	0.0		0.0	False		,,,				2504	0.0					ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.e14+1		fibulin 1		C	ILE/THR,MET/THR,MET/THR,ILE/THR	20,4386	27.2+/-55.0	0,20,2183	86.0	78.0	81.0		1697,1697,1697,1697	3.8	1.0	22	dbSNP_134	81	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	FBLN1	NM_001996.3,NM_006485.3,NM_006486.2,NM_006487.2	89,81,81,89	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	566/684,566/602,566/704,566/567	45946495	20,12986	2203	4300	6503	SO:0001630	splice_region_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45946495C>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1697+1C>T	22.37:g.45946495C>T						FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000327858.6_Splice_Site_p.T566_splice|FBLN1_ENST00000442170.2_Splice_Site_p.T566_splice|FBLN1_ENST00000402984.3_Splice_Site_p.T604_splice|FBLN1_ENST00000340923.5_Splice_Site_p.T566_splice|FBLN1_ENST00000262722.7_Splice_Site_p.T566_splice	p.T566_splice			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	14	1844	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	566			EGF-like 9; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Splice_Site	SNP	ENST00000327858.6	37	c.1697_splice	CCDS14067.1	6|6	0.0027472527472527475|0.0027472527472527475	4|4	0.008130081300813009|0.008130081300813009	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	13.03|13.03	2.115394|2.115394	0.37339|0.37339	0.004539|0.004539	0.0|0.0	ENSG00000077942|ENSG00000077942	ENST00000402984;ENST00000262722;ENST00000340923|ENST00000348697;ENST00000327858;ENST00000442170	D;D;D|D;D;D	0.92805|0.84146	-2.25;-3.11;-1.59|-1.7;-1.81;-1.77	4.78|4.78	3.76|3.76	0.43208|0.43208	.|Epidermal growth factor-like (1);	0.186482|0.186482	0.46145|0.46145	D|D	0.000315|0.000315	T|T	0.81597|0.81597	0.4856|0.4856	L|L	0.35288|0.35288	1.05|1.05	0.42767|0.42767	D|D	0.993825|0.993825	D;D|D;D	0.58268|0.89917	0.982;0.982|0.984;1.0	B;P|P;D	0.44623|0.69654	0.406;0.455|0.873;0.965	T|T	0.82770|0.82770	-0.0293|-0.0293	10|10	0.45353|0.46703	T|T	0.12|0.11	.|.	8.6471|8.6471	0.34011|0.34011	0.0:0.8257:0.0:0.1743|0.0:0.8257:0.0:0.1743	.|.	604;566|566;566	B1AHL2;P23142-4|P23142;B1AHL4	.;.|FBLN1_HUMAN;.	I|M	604;566;566|566	ENSP00000385521:T604I;ENSP00000262722:T566I;ENSP00000342212:T566I|ENSP00000262723:T566M;ENSP00000331544:T566M;ENSP00000393812:T566M	ENSP00000262722:T566I|ENSP00000331544:T566M	T|T	+|+	2|2	0|0	FBLN1|FBLN1	44325159|44325159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	1.699000|1.699000	0.37804|0.37804	2.205000|2.205000	0.71048|0.71048	0.462000|0.462000	0.41574|0.41574	ACC;ACC;ACA|ACG		0.612	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	Missense_Mutation	84	390	0	0	0	1	0	84	390				
TGM2	7052	broad.mit.edu	37	20	36775176	36775176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36775176C>T	ENST00000361475.2	-	6	975	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TGM2_ENST00000536724.1_Missense_Mutation_p.G208S|TGM2_ENST00000536701.1_Missense_Mutation_p.G187S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	268					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGCTGGCAGCCGTGGTTCTTC	0.672																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(802-804)Ggc>Agc		transglutaminase 2	L-Glutamine(DB00130)						40.0	33.0	35.0					20																	36775176		2202	4297	6499	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36775176C>T	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.802G>A	20.37:g.36775176C>T	ENSP00000355330:p.Gly268Ser					TGM2_ENST00000536701.1_Missense_Mutation_p.G187S|TGM2_ENST00000536724.1_Missense_Mutation_p.G208S	p.G268S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			6	975	-		Myeloproliferative disorder(115;0.00878)	268					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.802G>A	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400596	0.62177	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.67	1.6	0.23607	.	0.494953	0.23620	N	0.046259	D	0.89410	0.6707	L	0.49455	1.56	0.23016	N	0.998427	P;D;P;P;P;D	0.67145	0.914;0.996;0.954;0.821;0.93;0.988	B;P;B;B;P;P	0.62298	0.409;0.9;0.325;0.409;0.544;0.847	T	0.80434	-0.1384	10	0.29301	T	0.29	-0.4431	8.4057	0.32614	0.0:0.6299:0.0:0.3701	.	208;187;268;268;208;268	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	S	268;187;208;268	ENSP00000355330:G268S;ENSP00000444701:G187S;ENSP00000437479:G208S;ENSP00000362502:G268S	ENSP00000355330:G268S	G	-	1	0	TGM2	36208590	0.000000	0.05858	0.116000	0.21606	0.788000	0.44548	-0.137000	0.10389	0.070000	0.16634	0.563000	0.77884	GGC		0.672	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		14	225	0	0	0	1	0	14	225				
EIF2B1	1967	broad.mit.edu	37	12	124115056	124115056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124115056G>A	ENST00000424014.2	-	3	348	c.140C>T	c.(139-141)gCg>gTg	p.A47V	EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.A47V|EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	47					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGTGAGATTCGCCCTCAGACC	0.537																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(139-141)gCg>gTg		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							102.0	72.0	82.0					12																	124115056		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124115056G>A	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.140C>T	12.37:g.124115056G>A	ENSP00000416250:p.Ala47Val					EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.A47V	p.A47V	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	3	348	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		47					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.140C>T	CCDS31924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.22|14.22	2.469841|2.469841	0.43839|0.43839	.|.	.|.	ENSG00000111361|ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073|ENST00000534960	D;D;D;D|.	0.92495|.	-3.05;-3.05;-3.05;-3.05|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.162985|.	0.53938|.	D|.	0.000048|.	T|.	0.36468|.	0.0968|.	N|N	0.11064|0.11064	0.09|0.09	0.37228|0.37228	D|D	0.905578|0.905578	D;P;B|.	0.56968|.	0.978;0.836;0.033|.	B;B;B|.	0.34452|.	0.183;0.036;0.002|.	T|.	0.38023|.	-0.9680|.	10|.	0.33940|.	T|.	0.23|.	-19.2572|-19.2572	10.5723|10.5723	0.45206|0.45206	0.0:0.2524:0.6136:0.134|0.0:0.2524:0.6136:0.134	.|.	47;34;47|.	B4DGX0;F5H0D0;Q14232|.	.;.;EI2BA_HUMAN|.	V|X	47;47;34;47|63	ENSP00000416250:A47V;ENSP00000228958:A47V;ENSP00000438060:A34V;ENSP00000444183:A47V|.	ENSP00000228958:A47V|.	A|R	-|-	2|1	0|2	EIF2B1|EIF2B1	122681009|122681009	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.888000|0.888000	0.51559|0.51559	3.160000|3.160000	0.50739|0.50739	2.459000|2.459000	0.83118|0.83118	0.462000|0.462000	0.41574|0.41574	GCG|CGA		0.537	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		6	256	0	0	0	1	0	6	256				
SEC24C	9632	broad.mit.edu	37	10	75526270	75526270	+	Silent	SNP	C	C	T	rs149206620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75526270C>T	ENST00000339365.2	+	13	1932	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000345254.4_Silent_p.N590N|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.N471N|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	590					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)|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(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCCTGGTCAACGTCAATGAGT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20476	0.001		0.0	False		,,,				2504	0.0					ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1768-1770)aaC>aaT		SEC24 family member C		C	,	1,4405	2.1+/-5.4	0,1,2202	84.0	72.0	76.0		1770,1770	-0.2	1.0	10	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEC24C	NM_004922.3,NM_198597.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	590/1095,590/1095	75526270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9632				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	protein binding|zinc ion binding	g.chr10:75526270C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1770C>T	10.37:g.75526270C>T						SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000411652.2_Silent_p.N471N|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.N590N	p.N590N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			13	1932	+	Prostate(51;0.0112)		590					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.1770C>T	CCDS7332.1																																																																																				0.502	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			38	170	0	0	0	1	0	38	170				
OR7D4	125958	broad.mit.edu	37	19	9325480	9325480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325480A>C	ENST00000308682.2	-	1	62	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGGAGAAATTTTGATAAT	0.498																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(34-36)Ttt>Gtt		olfactory receptor, family 7, subfamily D, member 4							45.0	46.0	46.0					19																	9325480		2199	4295	6494	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325480A>C		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.34T>G	19.37:g.9325480A>C	ENSP00000310488:p.Phe12Val						p.F12V	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	62	-			12					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.34T>G	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841269	0.51057	.	.	ENSG00000174667	ENST00000308682	T	0.04551	3.6	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000010	T	0.24470	0.0593	H	0.94847	3.59	0.20703	N	0.999866	D	0.58268	0.982	P	0.58454	0.839	T	0.20940	-1.0260	10	0.87932	D	0	.	11.8803	0.52571	1.0:0.0:0.0:0.0	.	12	Q8NG98	OR7D4_HUMAN	V	12	ENSP00000310488:F12V	ENSP00000310488:F12V	F	-	1	0	OR7D4	9186480	0.974000	0.33945	0.032000	0.17829	0.013000	0.08279	2.328000	0.43867	1.762000	0.52044	0.172000	0.16884	TTT		0.498	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			39	356	0	0	0	1	0	39	356				
LAP3	51056	broad.mit.edu	37	4	17583965	17583965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17583965G>A	ENST00000226299.4	+	4	602	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	110					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGGAATCGACGAACAGGAAAA	0.443																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(328-330)Gaa>Aaa		leucine aminopeptidase 3							100.0	94.0	96.0					4																	17583965		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17583965G>A	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.328G>A	4.37:g.17583965G>A	ENSP00000226299:p.Glu110Lys					LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	p.E110K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			4	602	+			110					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.328G>A	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385022	0.42308	.	.	ENSG00000002549	ENST00000226299	T	0.44083	0.93	5.65	4.79	0.61399	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.634572	0.18480	N	0.139980	T	0.36524	0.0970	L	0.37507	1.11	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.27123	-1.0083	10	0.48119	T	0.1	-6.8573	15.4441	0.75216	0.0:0.39:0.61:0.0	.	110	P28838	AMPL_HUMAN	K	110	ENSP00000226299:E110K	ENSP00000226299:E110K	E	+	1	0	LAP3	17193063	0.985000	0.35326	0.104000	0.21259	0.937000	0.57800	2.303000	0.43646	1.485000	0.48380	0.655000	0.94253	GAA		0.443	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			25	139	0	0	0	1	0	25	139				
PCDH8	5100	broad.mit.edu	37	13	53420462	53420462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53420462C>T	ENST00000377942.3	-	1	2313	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	704	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGACAGTTGCGGTGGTGGTG	0.711																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2110-2112)Gca>Aca		protocadherin 8							5.0	8.0	7.0					13																	53420462		1864	3876	5740	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420462C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2110G>A	13.37:g.53420462C>T	ENSP00000367177:p.Ala704Thr					PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	p.A704T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2313	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	704			Cadherin 6.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2110G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777492	0.96929	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.50548	0.74;0.74	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.160212	0.29293	N	0.012575	T	0.63343	0.2503	L	0.60845	1.875	0.58432	D	0.999994	D;D	0.65815	0.994;0.995	P;D	0.63192	0.857;0.912	T	0.67879	-0.5556	10	0.66056	D	0.02	.	17.0134	0.86412	0.0:1.0:0.0:0.0	.	704;704	O95206-2;O95206	.;PCDH8_HUMAN	T	704;704;230;547	ENSP00000367177:A704T;ENSP00000341350:A704T	ENSP00000341350:A704T	A	-	1	0	PCDH8	52318463	1.000000	0.71417	0.246000	0.24233	0.995000	0.86356	6.772000	0.75001	2.234000	0.73211	0.655000	0.94253	GCA		0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		19	87	0	0	0	1	0	19	87				
AMOTL2	51421	broad.mit.edu	37	3	134084677	134084677	+	Missense_Mutation	SNP	C	C	T	rs183770550		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134084677C>T	ENST00000422605.2	-	5	1427	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T|AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000514516.1_Missense_Mutation_p.A479T|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	421					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGCAGCTTGGCCACCATGTCC	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18761	0.0		0.0	False		,,,				2504	0.0					ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1435-1437)Gcc>Acc		angiomotin like 2							92.0	89.0	90.0					3																	134084677		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134084677C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1261G>A	3.37:g.134084677C>T	ENSP00000409999:p.Ala421Thr					AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T|AMOTL2_ENST00000422605.2_Missense_Mutation_p.A421T|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T	p.A479T	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			5	1613	-			421					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.1435G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.6	4.311178	0.81358	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.76	4.76	0.60689	.	0.123656	0.56097	D	0.000030	T	0.31702	0.0805	L	0.52573	1.65	0.58432	D	0.99999	D;D;D	0.56521	0.975;0.975;0.976	P;P;P	0.49799	0.591;0.591;0.622	T	0.01904	-1.1250	10	0.39692	T	0.17	-17.4922	12.9886	0.58606	0.1614:0.8386:0.0:0.0	.	421;421;479	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	T	421;421;479;421	ENSP00000249883:A421T;ENSP00000409999:A421T;ENSP00000424765:A479T;ENSP00000425475:A421T	ENSP00000249883:A421T	A	-	1	0	AMOTL2	135567367	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.032000	0.64140	2.465000	0.83290	0.455000	0.32223	GCC		0.567	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		80	429	0	0	0	1	0	80	429				
BMPR2	659	broad.mit.edu	37	2	203424527	203424527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203424527C>T	ENST00000374580.4	+	13	3514	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	992					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGGGTCATCTCCACTGAATCG	0.483																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(2974-2976)tCc>tTc		bone morphogenetic protein receptor, type II (serine/threonine kinase)							94.0	85.0	88.0					2																	203424527		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203424527C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2975C>T	2.37:g.203424527C>T	ENSP00000363708:p.Ser992Phe					BMPR2_ENST00000374574.2_3'UTR	p.S992F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			13	3514	+			992					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.2975C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574230	0.65878	.	.	ENSG00000204217	ENST00000374580	D	0.91894	-2.93	5.65	5.65	0.86999	.	0.100576	0.64402	D	0.000001	D	0.88470	0.6445	L	0.27053	0.805	0.80722	D	1	P	0.42123	0.771	B	0.39617	0.305	D	0.89783	0.3962	10	0.87932	D	0	.	19.7342	0.96195	0.0:1.0:0.0:0.0	.	992	Q13873	BMPR2_HUMAN	F	992	ENSP00000363708:S992F	ENSP00000363708:S992F	S	+	2	0	BMPR2	203132772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.663000	0.83820	2.686000	0.91538	0.650000	0.86243	TCC		0.483	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		12	258	0	0	0	1	0	12	258				
GALNT2	2590	broad.mit.edu	37	1	230398351	230398351	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230398351A>G	ENST00000366672.4	+	12	1241	c.1169A>G	c.(1168-1170)gAt>gGt	p.D390G	GALNT2_ENST00000543760.1_Missense_Mutation_p.D352G|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000541865.1_Silent_p.G265G	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	390					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTCTGGATGGATGAATACAAA	0.433																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1168-1170)gAt>gGt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							136.0	158.0	151.0					1																	230398351		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230398351A>G	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1169A>G	1.37:g.230398351A>G	ENSP00000355632:p.Asp390Gly					GALNT2_ENST00000543760.1_Missense_Mutation_p.D352G|GALNT2_ENST00000541865.1_Silent_p.G265G|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	p.D390G	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			12	1241	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	390					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1169A>G	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386202	0.82902	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.71579	-0.58;-0.58	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.91920	3.255	0.80722	D	1	P;P	0.52577	0.924;0.954	B;P	0.49252	0.4;0.604	D	0.86630	0.1885	10	0.87932	D	0	.	14.5694	0.68202	1.0:0.0:0.0:0.0	.	390;352	Q10471;G3V1S6	GALT2_HUMAN;.	G	352;390;271	ENSP00000445017:D352G;ENSP00000355632:D390G	ENSP00000355632:D390G	D	+	2	0	GALNT2	228464974	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	9.268000	0.95675	1.906000	0.55180	0.379000	0.24179	GAT		0.433	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		19	1349	0	0	0	1	0	19	1349				
TRIM55	84675	broad.mit.edu	37	8	67040557	67040557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67040557C>T	ENST00000315962.4	+	2	560	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	63					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCGTATTTGCCCACAAGAGG	0.478																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(187-189)Ccc>Tcc		tripartite motif containing 55							111.0	111.0	111.0					8																	67040557		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67040557C>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.187C>T	8.37:g.67040557C>T	ENSP00000323913:p.Pro63Ser					TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S	p.P63S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	560	+		Lung NSC(129;0.138)|all_lung(136;0.221)	63					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.187C>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983031	0.53827	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.39406	1.45;1.51;1.46;1.08	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.047540	0.85682	D	0.000000	T	0.25531	0.0621	N	0.02916	-0.46	0.47153	D	0.999333	B;B;B;B	0.21688	0.021;0.059;0.012;0.01	B;B;B;B	0.23150	0.039;0.018;0.044;0.037	T	0.10154	-1.0642	10	0.41790	T	0.15	.	19.7667	0.96346	0.0:1.0:0.0:0.0	.	63;63;63;63	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	S	63	ENSP00000323913:P63S;ENSP00000297348:P63S;ENSP00000276573:P63S;ENSP00000332302:P63S	ENSP00000276573:P63S	P	+	1	0	TRIM55	67203111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.660000	0.90430	0.650000	0.86243	CCC		0.478	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		98	479	0	0	0	1	0	98	479				
BAIAP3	8938	broad.mit.edu	37	16	1398126	1398126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1398126G>A	ENST00000324385.5	+	33	3442	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1024H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1095	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCGCCGCCGCGCGGCCTGT	0.701																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(3283-3285)cGc>cAc		BAI1-associated protein 3							25.0	26.0	26.0					16																	1398126		2192	4293	6485	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1398126G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3284G>A	16.37:g.1398126G>A	ENSP00000324510:p.Arg1095His					BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1024H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H	p.R1095H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			33	3442	+		Hepatocellular(780;0.0893)	1095			C2 2.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.3284G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942314	0.53079	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72394	-0.64;-0.64;-0.65;-0.64;-0.62	4.65	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.070764	0.53938	D	0.000056	T	0.76033	0.3931	L	0.46885	1.475	0.41808	D	0.989951	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;D;D;D	0.68483	0.891;0.958;0.958;0.958	T	0.77281	-0.2646	10	0.59425	D	0.04	-11.4728	8.7969	0.34885	0.1047:0.0:0.8953:0.0	.	1024;1037;1095;1077	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1060;1077;1095;1077;1024	ENSP00000407242:R1060H;ENSP00000380625:R1077H;ENSP00000324510:R1095H;ENSP00000380626:R1077H;ENSP00000409533:R1024H	ENSP00000324510:R1095H	R	+	2	0	BAIAP3	1338127	0.966000	0.33281	0.804000	0.32291	0.073000	0.16967	3.136000	0.50554	2.117000	0.64856	0.561000	0.74099	CGC		0.701	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			13	256	0	0	0	1	0	13	256				
OR4Q3	441669	broad.mit.edu	37	14	20216181	20216181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216181C>T	ENST00000331723.1	+	1	595	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTAGAGGTGCTGGTGATAGC	0.498																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(595-597)Ctg>Ttg		olfactory receptor, family 4, subfamily Q, member 3							210.0	164.0	179.0					14																	20216181		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216181C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.595C>T	14.37:g.20216181C>T							p.L199L	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	595	+	all_cancers(95;0.00108)		199					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.595C>T	CCDS32020.1																																																																																				0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			19	383	0	0	0	1	0	19	383				
CD276	80381	broad.mit.edu	37	15	74003513	74003513	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74003513T>C	ENST00000318443.5	+	9	1884		c.e9+2		CD276_ENST00000537340.2_Splice_Site|CD276_ENST00000561213.1_Silent_p.G528G|CD276_ENST00000318424.5_Splice_Site|CD276_ENST00000564751.1_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCAAAGAAGGTAAAGACACCT	0.532																																						ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.e9+2		CD276 molecule							155.0	131.0	139.0					15																	74003513		2198	4297	6495	SO:0001630	splice_region_variant	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:74003513T>C	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1582+2T>C	15.37:g.74003513T>C						CD276_ENST00000561213.1_Silent_p.G528G|CD276_ENST00000564751.1_Splice_Site|CD276_ENST00000537340.2_Splice_Site|CD276_ENST00000318424.5_Splice_Site		NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			9	1884	+								Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Splice_Site	SNP	ENST00000318443.5	37		CCDS32288.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973409	0.53614	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000537340	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0701	0.59057	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD276	71790566	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	4.423000	0.59861	1.756000	0.51951	0.459000	0.35465	.		0.532	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240	Intron	59	293	0	0	0	1	0	59	293				
ABCA2	20	broad.mit.edu	37	9	139903317	139903317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903317G>A	ENST00000371605.3	-	46	7078	c.6931C>T	c.(6931-6933)Cgg>Tgg	p.R2311W	ABCA2_ENST00000265662.5_Missense_Mutation_p.R2312W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R2312W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2311					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTGGTGCCGCTCCTGCAGG	0.672																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6934-6936)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 2							31.0	34.0	33.0					9																	139903317		2078	4188	6266	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139903317G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6931C>T	9.37:g.139903317G>A	ENSP00000360666:p.Arg2311Trp					ABCA2_ENST00000341511.6_Missense_Mutation_p.R2312W|ABCA2_ENST00000371605.3_Missense_Mutation_p.R2311W	p.R2312W			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	47	7081	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2311					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.6934C>T		.	.	.	.	.	.	.	.	.	.	G	16.66	3.184237	0.57800	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	3.89	2.97	0.34412	.	0.152893	0.43260	U	0.000591	D	0.89480	0.6727	M	0.76170	2.325	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.89827	0.3993	10	0.87932	D	0	.	12.308	0.54912	0.0:0.0:0.6968:0.3032	.	2311;2342	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	W	2312;2311;2342;2312;80;70	ENSP00000265662:R2312W;ENSP00000360666:R2311W;ENSP00000344155:R2312W;ENSP00000420360:R80W;ENSP00000406741:R70W	ENSP00000265662:R2312W	R	-	1	2	ABCA2	139023138	0.993000	0.37304	0.995000	0.50966	0.362000	0.29581	0.771000	0.26633	0.820000	0.34516	0.491000	0.48974	CGG		0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		22	75	0	0	0	1	0	22	75				
CTNNA1	1495	broad.mit.edu	37	5	138260271	138260271	+	Missense_Mutation	SNP	G	G	A	rs139655691	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138260271G>A	ENST00000302763.7	+	12	1709	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R540H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	540					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCCTGGACCGCACAGCTGGT	0.498																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1618-1620)cGc>cAc		catenin (cadherin-associated protein), alpha 1, 102kDa		G	HIS/ARG	0,4406		0,0,2203	55.0	50.0	52.0		1619	5.5	1.0	5	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	missense	CTNNA1	NM_001903.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	540/907	138260271	2,13004	2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138260271G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1619G>A	5.37:g.138260271G>A	ENSP00000304669:p.Arg540His					CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R540H	p.R540H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		12	1709	+			540					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1619G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189748	0.78789	0.0	2.33E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	L	0.45285	1.41	0.80722	D	1	B;B;B	0.13594	0.008;0.005;0.001	B;B;B	0.16722	0.016;0.011;0.013	T	0.05818	-1.0862	10	0.29301	T	0.29	-9.4098	19.3816	0.94540	0.0:0.0:1.0:0.0	.	540;417;540	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	437;540;540;525;540;170	ENSP00000347190:R437H;ENSP00000304669:R540H;ENSP00000427821:R540H;ENSP00000438476:R170H	ENSP00000304669:R540H	R	+	2	0	CTNNA1	138288170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	CGC		0.498	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		29	141	0	0	0	1	0	29	141				
POMGNT2	84892	broad.mit.edu	37	3	43121639	43121639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43121639G>A	ENST00000344697.2	-	2	1630	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R429C	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	429					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GGGACCTCACGGCTTTGCAGG	0.602																																						ENST00000344697.2																			0											c.(1285-1287)Cgt>Tgt									40.0	39.0	39.0					3																	43121639		2203	4300	6503	SO:0001583	missense	0							g.chr3:43121639G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1285C>T	3.37:g.43121639G>A	ENSP00000344125:p.Arg429Cys					GTDC2_ENST00000441964.1_Missense_Mutation_p.R429C	p.R429C	NM_032806.4	NP_116195.2					2	1630	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.1285C>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190638	0.38707	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.77489	-1.1;-1.1	5.23	4.36	0.52297	.	0.346611	0.27886	N	0.017460	T	0.64159	0.2573	L	0.44542	1.39	0.43347	D	0.995409	P	0.45212	0.853	B	0.34452	0.183	T	0.66388	-0.5936	10	0.62326	D	0.03	-18.827	7.1044	0.25356	0.0847:0.0:0.6494:0.2658	.	429	Q8NAT1	AGO61_HUMAN	C	429	ENSP00000408992:R429C;ENSP00000344125:R429C	ENSP00000344125:R429C	R	-	1	0	C3orf39	43096643	1.000000	0.71417	0.943000	0.38184	0.706000	0.40770	3.364000	0.52328	1.350000	0.45770	0.650000	0.86243	CGT		0.602	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		44	173	0	0	0	1	0	44	173				
SERPINA1	5265	broad.mit.edu	37	14	94847322	94847322	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94847322T>C	ENST00000448921.1	-	5	1375	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	268					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATTGCCCAGGTATTTCATCAG	0.507																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(802-804)tAc>tGc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						139.0	118.0	125.0					14																	94847322		2203	4300	6503	SO:0001583	missense	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847322T>C	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.803A>G	14.37:g.94847322T>C	ENSP00000416066:p.Tyr268Cys					SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C	p.Y268C	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1375	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	268					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.803A>G	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433713	0.43224	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.05	5.05	0.67936	Serpin domain (3);	0.197104	0.35179	N	0.003382	D	0.95326	0.8483	M	0.93638	3.44	0.48830	D	0.999713	D;D	0.56521	0.97;0.976	P;D	0.63793	0.809;0.918	D	0.96388	0.9287	10	0.87932	D	0	.	14.0833	0.64939	0.0:0.0:0.0:1.0	.	268;268	P01009-2;P01009	.;A1AT_HUMAN	C	268	ENSP00000390299:Y268C;ENSP00000416066:Y268C;ENSP00000408474:Y268C;ENSP00000348068:Y268C;ENSP00000376802:Y268C;ENSP00000376803:Y268C;ENSP00000385960:Y268C;ENSP00000416354:Y268C;ENSP00000386094:Y268C	ENSP00000348068:Y268C	Y	-	2	0	SERPINA1	93917075	1.000000	0.71417	0.076000	0.20297	0.163000	0.22366	3.694000	0.54742	2.051000	0.60960	0.374000	0.22700	TAC		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		56	297	0	0	0	1	0	56	297				
OR1E1	8387	broad.mit.edu	37	17	3301258	3301258	+	Missense_Mutation	SNP	C	C	A	rs145403333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3301258C>A	ENST00000322608.2	-	1	446	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	149					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						TGGTCAGCACCCAGGACAGCG	0.547																																						ENST00000322608.2																			0				endometrium(3)|large_intestine(2)|lung(5)	10						c.(445-447)tgG>tgT		olfactory receptor, family 1, subfamily E, member 1							84.0	66.0	72.0					17																	3301258		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3301258C>A	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.447G>T	17.37:g.3301258C>A	ENSP00000313384:p.Trp149Cys						p.W149C	NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN			1	446	-			149					O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.447G>T	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945301	0.53079	.	.	ENSG00000180016	ENST00000322608	T	0.59638	0.25	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.80065	0.4555	M	0.91510	3.215	0.58432	D	0.999996	D	0.57257	0.979	D	0.65987	0.94	D	0.85183	0.1005	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	149	P30953	OR1E1_HUMAN	C	149	ENSP00000313384:W149C	ENSP00000313384:W149C	W	-	3	0	OR1E1	3248008	0.035000	0.19736	1.000000	0.80357	0.776000	0.43924	0.570000	0.23653	2.449000	0.82847	0.591000	0.81541	TGG		0.547	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		37	225	1	0	3.61848e-18	1	4.01023e-18	37	225				
NEUROG1	4762	broad.mit.edu	37	5	134871080	134871080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134871080C>T	ENST00000314744.4	-	1	559	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	101	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGTTGCGCTCGCGATCGTTG	0.706																																						ENST00000314744.4																			0				endometrium(1)|liver(1)	2						c.(301-303)Gag>Aag		neurogenin 1							34.0	35.0	34.0					5																	134871080		2203	4299	6502	SO:0001583	missense	4762				positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr5:134871080C>T	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"""Basic helix-loop-helix proteins"""	7764	protein-coding gene	gene with protein product	"""neurogenic differentiation 3"""	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.301G>A	5.37:g.134871080C>T	ENSP00000317580:p.Glu101Lys						p.E101K	NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	559	-			101					Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	37	c.301G>A	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	c	32	5.156516	0.94686	.	.	ENSG00000181965	ENST00000314744	D	0.99730	-6.56	4.71	4.71	0.59529	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97390	3.995	0.80722	D	1	D	0.65815	0.995	D	0.65140	0.932	D	0.96672	0.9497	10	0.66056	D	0.02	-23.8708	17.6476	0.88153	0.0:1.0:0.0:0.0	.	101	Q92886	NGN1_HUMAN	K	101	ENSP00000317580:E101K	ENSP00000317580:E101K	E	-	1	0	NEUROG1	134898979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.696000	0.84270	2.158000	0.67659	0.651000	0.88453	GAG		0.706	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	NM_006161		19	83	0	0	0	1	0	19	83				
MYRF	745	broad.mit.edu	37	11	61537791	61537791	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61537791G>T	ENST00000278836.5	+	5	630	c.534G>T	c.(532-534)ccG>ccT	p.P178P	MYRF_ENST00000265460.5_Silent_p.P169P|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	178	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGGAGCATCCGCCCCCACCTC	0.692																																						ENST00000278836.5																			0											c.(532-534)ccG>ccT		myelin regulatory factor							12.0	11.0	12.0					11																	61537791		2181	4288	6469	SO:0001819	synonymous_variant	745							g.chr11:61537791G>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.534G>T	11.37:g.61537791G>T						MYRF_ENST00000265460.5_Silent_p.P169P|TMEM258_ENST00000535042.1_Intron	p.P178P	NM_001127392.1	NP_001120864.1					5	630	+								O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.534G>T	CCDS44622.1																																																																																				0.692	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		10	58	1	0	2.80697e-09	1	2.95087e-09	10	58				
C6orf15	29113	broad.mit.edu	37	6	31079823	31079823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079823G>A	ENST00000259870.3	-	2	316	c.313C>T	c.(313-315)Cct>Tct	p.P105S	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	105					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCCATGGCAGGCAGCCCCCAC	0.622																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(313-315)Cct>Tct		chromosome 6 open reading frame 15							36.0	37.0	37.0					6																	31079823		2202	4298	6500	SO:0001583	missense	29113							g.chr6:31079823G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.313C>T	6.37:g.31079823G>A	ENSP00000259870:p.Pro105Ser						p.P105S	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	316	-			105					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.313C>T	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237102	0.39498	.	.	ENSG00000204542	ENST00000259870	T	0.07567	3.18	4.76	2.97	0.34412	.	0.437572	0.20015	N	0.101037	T	0.03178	0.0093	M	0.62723	1.935	0.09310	N	1	P	0.42203	0.773	B	0.35312	0.2	T	0.30995	-0.9959	10	0.59425	D	0.04	-1.3788	6.6477	0.22945	0.2097:0.0:0.7903:0.0	.	105	Q6UXA7	CF015_HUMAN	S	105	ENSP00000259870:P105S	ENSP00000259870:P105S	P	-	1	0	C6orf15	31187802	0.135000	0.22499	0.075000	0.20258	0.005000	0.04900	1.678000	0.37586	1.354000	0.45846	-0.148000	0.13756	CCT		0.622	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		14	349	0	0	0	1	0	14	349				
USP50	373509	broad.mit.edu	37	15	50822088	50822088	+	Missense_Mutation	SNP	G	G	A	rs557823387		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50822088G>A	ENST00000532404.1	-	6	1015	c.842C>T	c.(841-843)aCg>aTg	p.T281M	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	286	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		ATGAATATCCGTTCTCAGCTT	0.388																																						ENST00000532404.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13						c.(841-843)aCg>aTg		ubiquitin specific peptidase 50							207.0	185.0	192.0					15																	50822088		1832	4090	5922	SO:0001583	missense	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50822088G>A	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.842C>T	15.37:g.50822088G>A	ENSP00000434676:p.Thr281Met					USP50_ENST00000530218.1_5'UTR	p.T281M	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	6	1015	-			281					E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	c.842C>T	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194840	0.58017	.	.	ENSG00000170236	ENST00000532404	T	0.32753	1.44	5.66	4.75	0.60458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.194190	0.43416	D	0.000575	T	0.54515	0.1863	M	0.81497	2.545	0.34114	D	0.663346	D	0.89917	1.0	D	0.69824	0.966	T	0.70676	-0.4806	10	0.72032	D	0.01	-8.1603	10.7927	0.46443	0.0878:0.0:0.9122:0.0	.	286	Q70EL3	UBP50_HUMAN	M	281	ENSP00000434676:T281M	ENSP00000434676:T281M	T	-	2	0	USP50	48609380	0.999000	0.42202	0.872000	0.34217	0.840000	0.47671	4.049000	0.57397	1.406000	0.46857	-0.143000	0.13931	ACG		0.388	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			70	310	0	0	0	1	0	70	310				
RGL4	266747	broad.mit.edu	37	22	24034358	24034358	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24034358C>T	ENST00000290691.5	+	1	1311	c.141C>T	c.(139-141)ggC>ggT	p.G47G	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron|GUSBP11_ENST00000455485.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	47					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCTGTATGGCCAGGTCTGCC	0.632																																						ENST00000290691.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(139-141)ggC>ggT		ral guanine nucleotide dissociation stimulator-like 4							100.0	93.0	96.0					22																	24034358		2203	4300	6503	SO:0001819	synonymous_variant	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034358C>T		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.141C>T	22.37:g.24034358C>T						GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron	p.G47G	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN			1	1311	+			47					Q495L8	Silent	SNP	ENST00000290691.5	37	c.141C>T	CCDS13811.1																																																																																				0.632	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		112	504	0	0	0	1	0	112	504				
GPX5	2880	broad.mit.edu	37	6	28501868	28501868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28501868G>A	ENST00000412168.2	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	197					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCTGTCATGCGCTGGTCCCAC	0.512																																						ENST00000412168.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(589-591)cGc>cAc		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						88.0	88.0	88.0					6																	28501868		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28501868G>A	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.590G>A	6.37:g.28501868G>A	ENSP00000392398:p.Arg197His					GPX5_ENST00000442674.2_3'UTR	p.R197H	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN			5	679	+			197					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.590G>A	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152846	0.94645	.	.	ENSG00000224586	ENST00000412168	T	0.04917	3.53	4.52	4.52	0.55395	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	M	0.91249	3.19	0.80722	D	1	D	0.69078	0.997	P	0.56127	0.792	T	0.02560	-1.1141	10	0.66056	D	0.02	-11.5047	15.5724	0.76349	0.0:0.0:1.0:0.0	.	197	O75715	GPX5_HUMAN	H	197	ENSP00000392398:R197H	ENSP00000392398:R197H	R	+	2	0	GPX5	28609847	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.365000	0.73090	2.793000	0.96121	0.655000	0.94253	CGC		0.512	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			83	422	0	0	0	1	0	83	422				
DMBT1	1755	broad.mit.edu	37	10	124395524	124395524	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124395524A>C	ENST00000338354.3	+	50	6285	c.6179A>C	c.(6178-6180)aAc>aCc	p.N2060T	DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2060	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGCTGCAACTATGATTAT	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6178-6180)aAc>aCc		deleted in malignant brain tumors 1							116.0	112.0	113.0					10																	124395524		1974	4143	6117	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124395524A>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6179A>C	10.37:g.124395524A>C	ENSP00000342210:p.Asn2060Thr					DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T	p.N2060T			Q9UGM3	DMBT1_HUMAN			50	6285	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2060			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6179A>C		.	.	.	.	.	.	.	.	.	.	A	8.904	0.957041	0.18507	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.41	-2.7	0.06004	CUB (5);	2.122320	0.02507	N	0.091111	T	0.19525	0.0469	N	0.24115	0.695	0.09310	N	1	P;B;B;P;B;B;B	0.46142	0.676;0.213;0.386;0.873;0.05;0.05;0.062	B;B;B;B;B;B;B	0.42282	0.254;0.06;0.124;0.382;0.049;0.049;0.081	T	0.33317	-0.9873	10	0.29301	T	0.29	.	10.5743	0.45219	0.4977:0.0:0.5023:0.0	.	780;2040;1309;2189;1432;2050;2060	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	T	2060;2189;2060;2060;2060;2059;1432;2050;1432;1432;2060;2050;1432;206;780	ENSP00000342210:N2060T;ENSP00000343175:N2050T;ENSP00000327747:N1432T;ENSP00000357905:N2060T;ENSP00000357951:N2050T;ENSP00000357952:N1432T;ENSP00000352593:N780T	ENSP00000331522:N1432T	N	+	2	0	DMBT1	124385514	0.000000	0.05858	0.013000	0.15412	0.431000	0.31685	-0.947000	0.03901	-0.414000	0.07495	-0.376000	0.06991	AAC		0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		57	220	0	0	0	1	0	57	220				
CPLX4	339302	broad.mit.edu	37	18	56964052	56964052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56964052C>T	ENST00000299721.3	-	3	547	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	121					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.D121Y(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AGAATAGAATCTTTATCTTCT	0.418																																						ENST00000299721.3																			1	Substitution - Missense(1)	p.D121Y(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16						c.(361-363)Gat>Aat		complexin 4							122.0	111.0	115.0					18																	56964052		2203	4300	6503	SO:0001583	missense	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56964052C>T	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.361G>A	18.37:g.56964052C>T	ENSP00000299721:p.Asp121Asn					CPLX4_ENST00000587244.1_Intron	p.D121N	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN			3	547	-		Colorectal(73;0.175)	121					F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	c.361G>A	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897524	0.72639	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.087184	0.85682	D	0.000000	T	0.68659	0.3025	L	0.52759	1.655	0.80722	D	1	B	0.20887	0.049	B	0.35240	0.198	T	0.62950	-0.6745	9	0.34782	T	0.22	0.2791	19.3422	0.94347	0.0:1.0:0.0:0.0	.	121	Q7Z7G2	CPLX4_HUMAN	N	121	.	ENSP00000299721:D121N	D	-	1	0	CPLX4	55115032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.723000	0.68492	2.653000	0.90120	0.561000	0.74099	GAT		0.418	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		38	185	0	0	0	1	0	38	185				
CTNND2	1501	broad.mit.edu	37	5	11346613	11346613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11346613G>A	ENST00000304623.8	-	9	1688	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGGGTCCGCGTAATTGGA	0.662																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1498-1500)gCg>gTg		catenin (cadherin-associated protein), delta 2							82.0	86.0	85.0					5																	11346613		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346613G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1499C>T	5.37:g.11346613G>A	ENSP00000307134:p.Ala500Val					CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V	p.A500V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			9	1688	-			500					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1499C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529764	0.85706	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.80393	-1.22;-1.28;-1.25;-1.37;-1.26	5.8	5.8	0.92144	.	0.287190	0.32015	N	0.006716	T	0.73241	0.3562	L	0.44542	1.39	0.58432	D	0.999994	B;B;P	0.48998	0.384;0.196;0.918	B;B;B	0.33799	0.026;0.017;0.17	T	0.75365	-0.3343	10	0.39692	T	0.17	-14.6084	20.1139	0.97919	0.0:0.0:1.0:0.0	.	163;67;500	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	500;500;409;67;163	ENSP00000307134:A500V;ENSP00000352661:A500V;ENSP00000426510:A409V;ENSP00000391155:A67V;ENSP00000426887:A163V	ENSP00000307134:A500V	A	-	2	0	CTNND2	11399613	1.000000	0.71417	0.967000	0.41034	0.976000	0.68499	5.153000	0.64888	2.763000	0.94921	0.585000	0.79938	GCG		0.662	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		67	631	0	0	0	1	0	67	631				
CDC6	990	broad.mit.edu	37	17	38445693	38445693	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38445693G>T	ENST00000209728.4	+	2	492	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	7					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CCCGATCCCAGGCACAGGCTA	0.403																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(19-21)caG>caT		cell division cycle 6							77.0	77.0	77.0					17																	38445693		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38445693G>T	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.21G>T	17.37:g.38445693G>T	ENSP00000209728:p.Gln7His						p.Q7H	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			2	492	+			7					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.21G>T	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256689	0.80246	.	.	ENSG00000094804	ENST00000209728	T	0.59083	0.29	4.72	2.68	0.31781	.	0.129524	0.53938	D	0.000050	T	0.67933	0.2946	M	0.71581	2.175	0.39861	D	0.973386	D	0.67145	0.996	P	0.61328	0.887	T	0.69285	-0.5185	10	0.39692	T	0.17	-22.1046	10.5158	0.44889	0.1665:0.0:0.8335:0.0	.	7	Q99741	CDC6_HUMAN	H	7	ENSP00000209728:Q7H	ENSP00000209728:Q7H	Q	+	3	2	CDC6	35699219	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	3.099000	0.50267	1.212000	0.43366	0.557000	0.71058	CAG		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			30	312	1	0	4.2108e-06	1	4.33155e-06	30	312				
FILIP1	27145	broad.mit.edu	37	6	76023041	76023041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023041C>T	ENST00000237172.7	-	5	2837	c.2507G>A	c.(2506-2508)aGt>aAt	p.S836N	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N|FILIP1_ENST00000393004.2_Missense_Mutation_p.S836N	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	836										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCGAAGATTACTCATAATATG	0.458																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2506-2508)aGt>aAt		filamin A interacting protein 1							138.0	153.0	148.0					6																	76023041		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023041C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2507G>A	6.37:g.76023041C>T	ENSP00000237172:p.Ser836Asn					FILIP1_ENST00000237172.7_Missense_Mutation_p.S836N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N	p.S836N			Q7Z7B0	FLIP1_HUMAN			5	2728	-			836					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2507G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569228	0.28003	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19250	2.17;2.17;2.16	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.27053	0.805	0.52099	D	0.999946	B;B;B	0.27656	0.103;0.115;0.184	B;B;B	0.31101	0.031;0.058;0.124	T	0.06844	-1.0804	10	0.52906	T	0.07	-12.8369	14.5701	0.68205	0.0:0.9301:0.0:0.0699	.	836;836;836	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	N	836;836;737	ENSP00000376728:S836N;ENSP00000237172:S836N;ENSP00000359037:S737N	ENSP00000237172:S836N	S	-	2	0	FILIP1	76079761	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	3.921000	0.56454	1.410000	0.46936	-0.251000	0.11542	AGT		0.458	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		190	881	0	0	0	1	0	190	881				
CYP26A1	1592	broad.mit.edu	37	10	94836365	94836365	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94836365A>G	ENST00000224356.4	+	6	1109	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C|CYP26A1_ENST00000371531.1_Missense_Mutation_p.Y286C	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	355					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CAACTTAAATACATCGGGTGT	0.383																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(856-858)tAc>tGc		cytochrome P450, family 26, subfamily A, polypeptide 1							111.0	112.0	112.0					10																	94836365		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94836365A>G	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1064A>G	10.37:g.94836365A>G	ENSP00000224356:p.Tyr355Cys					CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C|CYP26A1_ENST00000224356.4_Missense_Mutation_p.Y355C	p.Y286C	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			6	1235	+		Colorectal(252;0.122)	355					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.857A>G	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535437	0.64972	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.76186	-1.0;-1.0;-1.0	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92221	0.5784	10	0.87932	D	0	-17.7244	15.3318	0.74219	1.0:0.0:0.0:0.0	.	286;355	B3KNI4;O43174	.;CP26A_HUMAN	C	286;355;286	ENSP00000360586:Y286C;ENSP00000224356:Y355C;ENSP00000377695:Y286C	ENSP00000224356:Y355C	Y	+	2	0	CYP26A1	94826355	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	8.578000	0.90777	2.214000	0.71695	0.528000	0.53228	TAC		0.383	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			73	367	0	0	0	1	0	73	367				
BEST3	144453	broad.mit.edu	37	12	70049400	70049400	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049400C>A	ENST00000330891.5	-	10	1520	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	BEST3_ENST00000488961.1_Missense_Mutation_p.A219S|BEST3_ENST00000553096.1_Missense_Mutation_p.A326S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	432					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTCCCTGGCTGGGCTGAGG	0.597																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1294-1296)Gcc>Tcc		bestrophin 3							94.0	99.0	98.0					12																	70049400		2014	4188	6202	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049400C>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1294G>T	12.37:g.70049400C>A	ENSP00000332413:p.Ala432Ser					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.A326S|BEST3_ENST00000488961.1_Missense_Mutation_p.A219S	p.A432S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1520	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		432					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1294G>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338624	0.05243	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97811	-4.19;-4.55;-4.51	5.63	-4.84	0.03151	.	0.900902	0.09621	N	0.777552	D	0.93996	0.8077	L	0.41236	1.265	0.18873	N	0.999989	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.82104	-0.0622	10	0.10902	T	0.67	-4.3232	14.9908	0.71387	0.0:0.22:0.0:0.78	.	432;219	Q8N1M1;B5MDI8	BEST3_HUMAN;.	S	219;432;326	ENSP00000433213:A219S;ENSP00000332413:A432S;ENSP00000449548:A326S	ENSP00000332413:A432S	A	-	1	0	BEST3	68335667	0.001000	0.12720	0.004000	0.12327	0.021000	0.10359	-1.100000	0.03339	-0.816000	0.04340	-0.140000	0.14226	GCC		0.597	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		42	417	1	0	5.59293e-11	1	5.94944e-11	42	417				
FOXC2	2303	broad.mit.edu	37	16	86601231	86601231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601231G>A	ENST00000320354.4	+	1	375	c.290G>A	c.(289-291)gGc>gAc	p.G97D	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	97					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACCTTGAACGGCATCTACCAG	0.597									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15	GRCh37	CD012256	FOXC2	D		c.(289-291)gGc>gAc		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							118.0	122.0	120.0					16																	86601231		2198	4300	6498	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601231G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.290G>A	16.37:g.86601231G>A	ENSP00000326371:p.Gly97Asp					RP11-463O9.5_ENST00000563280.1_RNA	p.G97D	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	375	+			97					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.290G>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024882	0.75390	.	.	ENSG00000176692	ENST00000320354	D	0.95103	-3.61	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.56097	U	0.000029	D	0.94673	0.8282	L	0.37697	1.125	0.80722	D	1	P	0.41978	0.767	P	0.56648	0.803	D	0.94092	0.7354	10	0.37606	T	0.19	.	16.2107	0.82151	0.0:0.0:1.0:0.0	.	97	Q99958	FOXC2_HUMAN	D	97	ENSP00000326371:G97D	ENSP00000326371:G97D	G	+	2	0	FOXC2	85158732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.145000	0.66743	0.650000	0.86243	GGC		0.597	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		42	797	0	0	0	1	0	42	797				
RPRD1B	58490	broad.mit.edu	37	20	36694492	36694492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36694492C>T	ENST00000373433.4	+	6	1067	c.665C>T	c.(664-666)gCa>gTa	p.A222V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	222					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GACAAAGAGGCAGCTGAACGT	0.438																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(664-666)gCa>gTa		regulation of nuclear pre-mRNA domain containing 1B							66.0	77.0	73.0					20																	36694492		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36694492C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.665C>T	20.37:g.36694492C>T	ENSP00000362532:p.Ala222Val						p.A222V	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			6	1067	+			222					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.665C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102406	0.94245	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.65	5.65	0.86999	.	0.045472	0.85682	D	0.000000	T	0.53610	0.1807	M	0.65498	2.005	0.80722	D	1	P	0.47302	0.893	B	0.33454	0.164	T	0.59451	-0.7452	9	0.37606	T	0.19	-10.0649	18.891	0.92403	0.0:1.0:0.0:0.0	.	222	Q9NQG5	RPR1B_HUMAN	V	222;104	.	ENSP00000362532:A222V	A	+	2	0	RPRD1B	36127906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GCA		0.438	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		16	521	0	0	0	1	0	16	521				
CEACAM3	1084	broad.mit.edu	37	19	42301744	42301744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301744C>T	ENST00000357396.3	+	2	529	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM3_ENST00000344550.4_Silent_p.S96S|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.S96S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	96	Ig-like V-type.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCGCATACAGCGGTCGAGAGA	0.463																																						ENST00000357396.3																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(286-288)agC>agT		carcinoembryonic antigen-related cell adhesion molecule 3							200.0	223.0	215.0					19																	42301744		2198	4300	6498	SO:0001819	synonymous_variant	1084					integral to membrane		g.chr19:42301744C>T	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.288C>T	19.37:g.42301744C>T						CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.S96S|CEACAM3_ENST00000344550.4_Silent_p.S96S	p.S96S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			2	529	+			96			Ig-like V-type.		G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	37	c.288C>T	CCDS12586.2																																																																																				0.463	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		141	1038	0	0	0	1	0	141	1038				
UBQLN3	50613	broad.mit.edu	37	11	5530082	5530082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530082C>T	ENST00000311659.4	-	2	854	c.707G>A	c.(706-708)aGc>aAc	p.S236N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	236										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGTCCTGGCTACGTATCAT	0.478																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(706-708)aGc>aAc		ubiquilin 3							91.0	86.0	88.0					11																	5530082		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530082C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.707G>A	11.37:g.5530082C>T	ENSP00000347997:p.Ser236Asn					HBG2_ENST00000380259.2_Intron	p.S236N	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	854	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	236					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.707G>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943531	0.18281	.	.	ENSG00000175520	ENST00000311659	T	0.30714	1.52	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000042	T	0.19248	0.0462	L	0.31526	0.94	0.38581	D	0.950182	B	0.24721	0.11	B	0.24848	0.056	T	0.05886	-1.0858	10	0.05833	T	0.94	-16.6012	10.726	0.46068	0.0:0.913:0.0:0.087	.	236	Q9H347	UBQL3_HUMAN	N	236	ENSP00000347997:S236N	ENSP00000347997:S236N	S	-	2	0	UBQLN3	5486658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.282000	0.51693	2.750000	0.94351	0.591000	0.81541	AGC		0.478	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		97	409	0	0	0	1	0	97	409				
FTHL17	53940	broad.mit.edu	37	X	31089968	31089968	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31089968A>G	ENST00000359202.3	-	1	202	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	35	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.Y35N(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ATAGACAGGTACAGGTAGGAG	0.607																																						ENST00000359202.3																			2	Substitution - Missense(2)	p.Y35N(2)	liver(2)	endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(103-105)Tac>Cac		ferritin, heavy polypeptide-like 17							84.0	74.0	77.0					X																	31089968		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089968A>G	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.103T>C	X.37:g.31089968A>G	ENSP00000368207:p.Tyr35His						p.Y35H	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	202	-			35			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.103T>C	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648995	0.47362	.	.	ENSG00000132446	ENST00000359202	D	0.86097	-2.07	3.55	-0.386	0.12466	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.142334	0.48767	D	0.000174	D	0.92851	0.7726	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84279	0.0493	10	0.87932	D	0	.	5.025	0.14379	0.4797:0.3485:0.0:0.1717	.	35	Q9BXU8	FHL17_HUMAN	H	35	ENSP00000368207:Y35H	ENSP00000368207:Y35H	Y	-	1	0	FTHL17	30999889	0.519000	0.26242	0.000000	0.03702	0.074000	0.17049	4.060000	0.57477	-0.165000	0.10908	0.437000	0.28790	TAC		0.607	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		51	423	0	0	0	1	0	51	423				
SYT5	6861	broad.mit.edu	37	19	55687147	55687147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687147C>T	ENST00000354308.3	-	5	839	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.R157Q|SYT5_ENST00000590851.1_Missense_Mutation_p.R154Q|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	157	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTACCGCCTCCGTTTGTCCGG	0.612																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(469-471)cGg>cAg		synaptotagmin V							110.0	106.0	107.0					19																	55687147		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687147C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.470G>A	19.37:g.55687147C>T	ENSP00000346265:p.Arg157Gln					SYT5_ENST00000590851.1_Missense_Mutation_p.R154Q|SYT5_ENST00000537500.1_Missense_Mutation_p.R157Q|CTD-2587H24.5_ENST00000591665.1_RNA	p.R157Q	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	839	-			157			C2 1.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.470G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667558	0.88348	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.69040	-0.37;-0.37	4.54	1.16	0.20824	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.124256	0.52532	N	0.000078	T	0.50326	0.1609	N	0.17564	0.495	0.36617	D	0.875536	D;B;D	0.56968	0.978;0.304;0.957	P;B;P	0.50537	0.603;0.028;0.643	T	0.55885	-0.8070	10	0.66056	D	0.02	.	2.4942	0.04617	0.2129:0.4374:0.0:0.3497	.	154;157;157	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	Q	157;157;154	ENSP00000442896:R157Q;ENSP00000346265:R157Q	ENSP00000346265:R157Q	R	-	2	0	SYT5	60378959	1.000000	0.71417	0.603000	0.28903	0.821000	0.46438	3.265000	0.51561	0.584000	0.29591	0.555000	0.69702	CGG		0.612	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		47	423	0	0	0	1	0	47	423				
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	G	A	rs141068541	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17638	0.0		0.0	False		,,,				2504	0.0					ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(307-309)agC>agT		chymotrypsin-like elastase family, member 1		G		4,4402	9.9+/-24.2	0,4,2199	179.0	137.0	151.0		309	2.3	0.8	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CELA1	NM_001971.5		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		103/259	51736376	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51736376G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.309C>T	12.37:g.51736376G>A							p.S103S	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			4	349	-			103			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	c.309C>T	CCDS8812.1																																																																																				0.577	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		111	493	0	0	0	1	0	111	493				
TPPP	11076	broad.mit.edu	37	5	677962	677962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:677962G>A	ENST00000360578.5	-	2	335	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	72	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TTCTTGCCGTGCATCTCCCTC	0.642																																						ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(214-216)Cac>Tac		tubulin polymerization promoting protein							129.0	86.0	101.0					5																	677962		2202	4300	6502	SO:0001583	missense	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:677962G>A	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.214C>T	5.37:g.677962G>A	ENSP00000353785:p.His72Tyr						p.H72Y	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	2	335	-		Ovarian(839;0.0563)	72			Mediates interaction with LIMK1.			Missense_Mutation	SNP	ENST00000360578.5	37	c.214C>T	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350887	0.61183	.	.	ENSG00000171368	ENST00000360578	T	0.42900	0.96	5.32	5.32	0.75619	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.51422	1.61	0.47862	D	0.999536	D	0.61697	0.99	P	0.62491	0.903	T	0.54820	-0.8236	10	0.54805	T	0.06	-32.1368	13.5508	0.61730	0.0:0.0:0.844:0.156	.	72	O94811	TPPP_HUMAN	Y	72	ENSP00000353785:H72Y	ENSP00000353785:H72Y	H	-	1	0	TPPP	730962	1.000000	0.71417	0.999000	0.59377	0.302000	0.27658	2.600000	0.46240	2.485000	0.83878	0.561000	0.74099	CAC		0.642	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		74	276	0	0	0	1	0	74	276				
SLC38A10	124565	broad.mit.edu	37	17	79219815	79219815	+	Silent	SNP	G	G	A	rs372573156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79219815G>A	ENST00000374759.3	-	16	3284	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	967					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCCTGCTCGCCATCAGAGA	0.687																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2899-2901)ggC>ggT		solute carrier family 38, member 10		G		0,3992		0,0,1996	23.0	28.0	26.0		2901	-8.0	0.0	17		26	1,8319		0,1,4159	no	coding-synonymous	SLC38A10	NM_001037984.1		0,1,6155	AA,AG,GG		0.012,0.0,0.0081		967/1120	79219815	1,12311	1996	4160	6156	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219815G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2901C>T	17.37:g.79219815G>A							p.G967G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3284	-	all_neural(118;0.0804)|Melanoma(429;0.242)		967					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.2901C>T	CCDS42397.1																																																																																				0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		70	264	0	0	0	1	0	70	264				
CTSF	8722	broad.mit.edu	37	11	66329613	66329613	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66329613C>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAACGAGTTCCGAGCATCCTT	0.597																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							56.0	61.0	59.0					11																	66329613		2200	4295	6495	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66329613C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66329613C>T						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	2393	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.597	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		60	225	0	0	0	1	0	60	225				
FOXB1	27023	broad.mit.edu	37	15	60297560	60297560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60297560C>T	ENST00000396057.4	+	2	877	c.398C>T	c.(397-399)gCc>gTc	p.A133V	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	133					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CAGCAGCAGGCCAAGCTGCGG	0.721																																						ENST00000396057.4																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						c.(397-399)gCc>gTc		forkhead box B1							7.0	8.0	7.0					15																	60297560		2055	4057	6112	SO:0001583	missense	27023				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr15:60297560C>T	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.398C>T	15.37:g.60297560C>T	ENSP00000379369:p.Ala133Val					FOXB1_ENST00000560857.1_Intron	p.A133V	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN			2	877	+			133					O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	c.398C>T	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846310	0.71603	.	.	ENSG00000171956	ENST00000396057	D	0.96300	-3.97	4.11	4.11	0.48088	.	0.273372	0.31370	U	0.007767	D	0.94218	0.8144	L	0.55481	1.735	0.58432	D	0.999999	B	0.26744	0.158	B	0.26864	0.074	D	0.92964	0.6391	10	0.38643	T	0.18	.	15.073	0.72053	0.0:1.0:0.0:0.0	.	133	Q99853	FOXB1_HUMAN	V	133	ENSP00000379369:A133V	ENSP00000379369:A133V	A	+	2	0	FOXB1	58084852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.622000	0.46427	2.091000	0.63221	0.650000	0.86243	GCC		0.721	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			23	102	0	0	0	1	0	23	102				
KRT3	3850	broad.mit.edu	37	12	53186985	53186985	+	Missense_Mutation	SNP	G	G	A	rs201121196		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53186985G>A	ENST00000417996.2	-	3	963	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	297	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGCTGTACGTTTATTGATT	0.443																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(889-891)Cgt>Tgt		keratin 3							118.0	121.0	120.0					12																	53186985		2124	4286	6410	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53186985G>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.889C>T	12.37:g.53186985G>A	ENSP00000413479:p.Arg297Cys					KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	p.R297C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			3	963	-			297			Coil 1B.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.889C>T	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854991	0.71719	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90069	-2.61;-2.61	4.59	4.59	0.56863	Filament (1);	0.142736	0.32769	N	0.005676	D	0.94647	0.8274	M	0.91768	3.24	0.48511	D	0.999661	D	0.67145	0.996	P	0.59115	0.852	D	0.95900	0.8914	10	0.87932	D	0	.	15.9243	0.79603	0.0:0.0:1.0:0.0	.	297	P12035	K2C3_HUMAN	C	297	ENSP00000413479:R297C;ENSP00000312206:R297C	ENSP00000312206:R297C	R	-	1	0	KRT3	51473252	0.848000	0.29623	0.998000	0.56505	0.982000	0.71751	2.361000	0.44160	2.263000	0.75096	0.561000	0.74099	CGT		0.443	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		18	55	0	0	0	1	0	18	55				
STAM	8027	broad.mit.edu	37	10	17730057	17730057	+	Missense_Mutation	SNP	C	C	T	rs142836471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17730057C>T	ENST00000377524.3	+	5	544	c.329C>T	c.(328-330)gCt>gTt	p.A110V	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	110	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAATTAAAGGCTCTTATGGTT	0.323																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(328-330)gCt>gTt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1		C	VAL/ALA	0,4406		0,0,2203	101.0	108.0	105.0		329	5.8	1.0	10	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAM	NM_003473.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	110/541	17730057	1,13005	2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17730057C>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.329C>T	10.37:g.17730057C>T	ENSP00000366746:p.Ala110Val					STAM_ENST00000540523.1_5'UTR	p.A110V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			5	544	+			110			VHS.		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.329C>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474386	0.84640	0.0	1.16E-4	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500	T	0.23147	1.92	5.83	5.83	0.93111	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.102265	0.64402	D	0.000002	T	0.34978	0.0916	L	0.41710	1.295	0.80722	D	1	D	0.59357	0.985	P	0.51297	0.665	T	0.00708	-1.1600	10	0.34782	T	0.22	-23.4298	20.1133	0.97917	0.0:1.0:0.0:0.0	.	110	Q92783	STAM1_HUMAN	V	110;60;13	ENSP00000366746:A110V	ENSP00000366721:A13V	A	+	2	0	STAM	17770063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.762000	0.94881	0.591000	0.81541	GCT		0.323	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		88	433	0	0	0	1	0	88	433				
SPEF2	79925	broad.mit.edu	37	5	35691298	35691298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35691298G>T	ENST00000356031.3	+	11	1838	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	SPEF2_ENST00000440995.2_Nonsense_Mutation_p.G562*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	562					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCTGTTAAAGGATGCTTATT	0.403																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1684-1686)Gga>Tga		sperm flagellar 2							131.0	132.0	132.0					5																	35691298		1866	4092	5958	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691298G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1684G>T	5.37:g.35691298G>T	ENSP00000348314:p.Gly562*					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.G562*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*	p.G562*			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1684	+	all_lung(31;7.56e-05)		562					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.1684G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	36	5.879303	0.97055	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	.	.	.	5.6	5.6	0.85130	.	0.198962	0.43747	D	0.000532	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4062	0.87474	0.0:0.0:1.0:0.0	.	.	.	.	X	562;562;562;73	.	ENSP00000348314:G562X	G	+	1	0	SPEF2	35727055	1.000000	0.71417	0.970000	0.41538	0.456000	0.32438	4.705000	0.61838	2.628000	0.89032	0.585000	0.79938	GGA		0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		83	407	1	0	5.56898e-48	1	6.86499e-48	83	407				
C2orf16	84226	broad.mit.edu	37	2	27802900	27802900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27802900G>A	ENST00000408964.2	+	1	3512	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1154						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACCTTGTACGCACTCCTGAA	0.468																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3460-3462)cGc>cAc		chromosome 2 open reading frame 16							94.0	95.0	95.0					2																	27802900		2006	4187	6193	SO:0001583	missense	84226							g.chr2:27802900G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3461G>A	2.37:g.27802900G>A	ENSP00000386190:p.Arg1154His						p.R1154H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3512	+	Acute lymphoblastic leukemia(172;0.155)		1154					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3461G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395537	0.62066	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	5.19	3.37	0.38596	.	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.22779	N	0.998746	P	0.38110	0.618	B	0.27380	0.079	T	0.40646	-0.9552	9	0.54805	T	0.06	.	6.8869	0.24208	0.2046:0.0:0.7954:0.0	.	1154	Q68DN1	CB016_HUMAN	H	1154	ENSP00000386190:R1154H	ENSP00000386190:R1154H	R	+	2	0	C2orf16	27656404	0.998000	0.40836	1.000000	0.80357	0.708000	0.40852	1.947000	0.40293	1.177000	0.42855	0.467000	0.42956	CGC		0.468	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		189	467	0	0	0	1	0	189	467				
PALD1	27143	broad.mit.edu	37	10	72307142	72307142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72307142C>T	ENST00000263563.6	+	18	2470	c.2202C>T	c.(2200-2202)agC>agT	p.S734S		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	734						cytosol (GO:0005829)											ACACTGTCAGCGAGACCATGA	0.647																																						ENST00000263563.6																			0											c.(2200-2202)agC>agT		phosphatase domain containing, paladin 1							153.0	121.0	132.0					10																	72307142		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72307142C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2202C>T	10.37:g.72307142C>T							p.S734S	NM_014431.2	NP_055246.2					18	2470	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.2202C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	6.538	0.467473	0.12402	.	.	ENSG00000107719	ENST00000426268	.	.	.	4.03	-5.11	0.02901	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.5918	13.5129	0.61524	0.0:0.3296:0.0:0.6704	.	.	.	.	X	115	.	.	R	+	1	2	KIAA1274	71977148	0.000000	0.05858	0.850000	0.33497	0.582000	0.36321	-2.318000	0.01121	-1.570000	0.01665	-1.360000	0.01215	CGA		0.647	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		46	545	0	0	0	1	0	46	545				
THBS2	7058	broad.mit.edu	37	6	169623504	169623504	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169623504A>C	ENST00000366787.3	-	19	3089	c.2840T>G	c.(2839-2841)gTg>gGg	p.V947G	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	947					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCAGGACACACATCATCAAT	0.428																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2839-2841)gTg>gGg		thrombospondin 2							146.0	124.0	132.0					6																	169623504		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623504A>C		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2840T>G	6.37:g.169623504A>C	ENSP00000355751:p.Val947Gly					THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.V947G	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3089	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	947					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2840T>G	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863967	0.71949	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98493	-4.96	4.73	4.73	0.59995	.	0.000000	0.36972	U	0.002312	D	0.98642	0.9545	M	0.87456	2.885	0.80722	D	1	D	0.61080	0.989	P	0.60949	0.881	D	0.99445	1.0939	10	0.87932	D	0	-31.2608	14.2292	0.65879	1.0:0.0:0.0:0.0	.	947	P35442	TSP2_HUMAN	G	947;205	ENSP00000355751:V947G	ENSP00000355751:V947G	V	-	2	0	THBS2	169365429	1.000000	0.71417	0.996000	0.52242	0.777000	0.43975	6.838000	0.75359	1.747000	0.51819	0.386000	0.25728	GTG		0.428	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		69	373	0	0	0	1	0	69	373				
SERPINE2	5270	broad.mit.edu	37	2	224856691	224856691	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224856691C>A	ENST00000258405.4	-	4	756	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y|SERPINE2_ENST00000409840.3_Missense_Mutation_p.D172Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	172					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAATAAGATCTGGGGACAGC	0.488																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(514-516)Gat>Tat		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							75.0	64.0	68.0					2																	224856691		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224856691C>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.514G>T	2.37:g.224856691C>A	ENSP00000258405:p.Asp172Tyr					SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y|SERPINE2_ENST00000258405.4_Missense_Mutation_p.D172Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y	p.D172Y			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	5	1174	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	172					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.514G>T	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498938	0.64298	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	T;T;T;T;T	0.76060	1.82;-0.99;1.82;1.82;1.82	5.8	3.03	0.35002	Serpin domain (3);	0.255713	0.44902	D	0.000417	D	0.86965	0.6060	M	0.92833	3.35	0.58432	D	0.999991	D;D	0.60160	0.987;0.987	D;P	0.66084	0.941;0.904	D	0.86978	0.2102	10	0.87932	D	0	.	10.199	0.43071	0.0:0.7855:0.0:0.2145	.	184;172	B4DIF2;P07093	.;GDN_HUMAN	Y	172;172;172;184;172	ENSP00000386412:D172Y;ENSP00000258405:D172Y;ENSP00000386969:D172Y;ENSP00000415786:D184Y;ENSP00000408452:D172Y	ENSP00000258405:D172Y	D	-	1	0	SERPINE2	224564935	0.993000	0.37304	0.012000	0.15200	0.982000	0.71751	3.012000	0.49575	0.364000	0.24374	0.650000	0.86243	GAT		0.488	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		36	139	1	0	1.06647e-15	1	1.16694e-15	36	139				
RUNX3	864	broad.mit.edu	37	1	25291031	25291031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25291031G>A	ENST00000338888.3	-	2	277	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RUNX3_ENST00000399916.1_Missense_Mutation_p.P11L|RP11-84D1.1_ENST00000456316.1_RNA			Q13761	RUNX3_HUMAN	runt-related transcription factor 3	0					axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGAGTAGGTCGGGAAGGAGTC	0.617																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(31-33)cCg>cTg		runt-related transcription factor 3							65.0	52.0	57.0					1																	25291031		2202	4300	6502	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25291031G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000338888.3:c.32C>T	1.37:g.25291031G>A	ENSP00000343477:p.Pro11Leu					RUNX3_ENST00000338888.3_Missense_Mutation_p.P11L	p.P11L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	1	470	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	256					B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000338888.3	37	c.32C>T	CCDS30633.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786488	0.49997	.	.	ENSG00000020633	ENST00000399916;ENST00000338888	D;D	0.96745	-4.11;-4.11	5.67	5.67	0.87782	.	0.351698	0.20834	N	0.084826	D	0.93890	0.8045	N	0.11560	0.145	0.80722	D	1	D;B	0.61080	0.989;0.027	P;B	0.53490	0.727;0.01	D	0.94337	0.7567	10	0.51188	T	0.08	-20.3512	15.2825	0.73797	0.0:0.0:1.0:0.0	.	11;11	Q13761-2;B1AJV5	.;.	L	11	ENSP00000382800:P11L;ENSP00000343477:P11L	ENSP00000343477:P11L	P	-	2	0	RUNX3	25163618	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.755000	0.68750	2.677000	0.91161	0.561000	0.74099	CCG		0.617	RUNX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009285.1	NM_004350		7	80	0	0	0	1	0	7	80				
CXCR4	7852	broad.mit.edu	37	2	136872482	136872482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872482G>T	ENST00000241393.3	-	2	1120	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	CXCR4_ENST00000409817.1_Missense_Mutation_p.S343Y|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	339					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AGTGGAAACAGATGAATGTCC	0.418																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1027-1029)tCt>tAt		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						180.0	172.0	175.0					2																	136872482		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872482G>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.1016C>A	2.37:g.136872482G>T	ENSP00000241393:p.Ser339Tyr					CXCR4_ENST00000241393.3_Missense_Mutation_p.S339Y|CXCR4_ENST00000466288.1_5'UTR	p.S343Y	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	1331	-			339					B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.1028C>A	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091409	0.36855	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.61627	0.09;0.09	5.95	5.95	0.96441	.	0.195409	0.56097	D	0.000035	T	0.64605	0.2613	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.68032	-0.5516	10	0.54805	T	0.06	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	339;343	P61073;P61073-2	CXCR4_HUMAN;.	Y	343;339;209	ENSP00000386884:S343Y;ENSP00000241393:S339Y	ENSP00000241393:S339Y	S	-	2	0	CXCR4	136588952	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	TCT		0.418	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			11	78	1	0	0.0167234	1	0.0167961	11	78				
WDR72	256764	broad.mit.edu	37	15	53815426	53815426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53815426G>A	ENST00000396328.1	-	19	3481	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F	WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F|WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1081										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGACTCTCAGACTCTTCCAA	0.468																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(3241-3243)tCt>tTt		WD repeat domain 72							183.0	178.0	180.0					15																	53815426		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53815426G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3242C>T	15.37:g.53815426G>A	ENSP00000379619:p.Ser1081Phe					WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F|WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F	p.S1081F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	19	3481	-			1081					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.3242C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616979	0.66672	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.53640	0.61;0.61	6.17	6.17	0.99709	.	0.235283	0.30649	N	0.009171	T	0.63129	0.2485	L	0.51422	1.61	0.37861	D	0.929711	D	0.64830	0.994	P	0.60173	0.87	T	0.65076	-0.6256	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1081	Q3MJ13	WDR72_HUMAN	F	1081	ENSP00000379619:S1081F;ENSP00000353699:S1081F	ENSP00000353699:S1081F	S	-	2	0	WDR72	51602718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.918000	0.75788	2.941000	0.99782	0.655000	0.94253	TCT		0.468	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		165	858	0	0	0	1	0	165	858				
PCDH1	5097	broad.mit.edu	37	5	141248692	141248692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141248692G>A	ENST00000394536.3	-	2	484	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH1_ENST00000536585.1_Silent_p.I93I|PCDH1_ENST00000287008.3_Silent_p.I115I|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000456271.1_Silent_p.I115I|PCDH1_ENST00000503492.1_Silent_p.I115I	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	115	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCTCACGGTCGATGGAGGTCT	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(343-345)atC>atT		protocadherin 1							79.0	76.0	77.0					5																	141248692		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248692G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.345C>T	5.37:g.141248692G>A						PCDH1_ENST00000394536.3_Silent_p.I115I|PCDH1_ENST00000536585.1_Silent_p.I93I|PCDH1_ENST00000456271.1_Silent_p.I115I|PCDH1_ENST00000503492.1_Silent_p.I115I	p.I115I	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	492	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	115			Cadherin 1.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.345C>T	CCDS43375.1																																																																																				0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		40	202	0	0	0	1	0	40	202				
REST	5978	broad.mit.edu	37	4	57777432	57777432	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777432G>T	ENST00000309042.7	+	2	942	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	210					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAAGAGGGAGATTTCTCCAA	0.493																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(628-630)Gat>Tat		RE1-silencing transcription factor							56.0	55.0	55.0					4																	57777432		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777432G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.628G>T	4.37:g.57777432G>T	ENSP00000311816:p.Asp210Tyr					REST_ENST00000514063.1_3'UTR	p.D210Y	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	942	+	Glioma(25;0.08)|all_neural(26;0.181)		210					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.628G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832111	0.71258	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10099	2.91	6.02	6.02	0.97574	.	0.162464	0.41097	D	0.000954	T	0.33673	0.0871	M	0.61703	1.905	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.72075	0.956;0.976	T	0.00349	-1.1798	10	0.72032	D	0.01	-26.9232	20.1358	0.98028	0.0:0.0:1.0:0.0	.	210;210	Q13127-2;Q13127	.;REST_HUMAN	Y	210	ENSP00000311816:D210Y	ENSP00000311816:D210Y	D	+	1	0	REST	57472189	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.441000	0.97557	2.865000	0.98341	0.655000	0.94253	GAT		0.493	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		41	281	1	0	2.35958e-20	1	2.64308e-20	41	281				
PWP1	11137	broad.mit.edu	37	12	108082504	108082504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082504G>A	ENST00000412830.3	+	3	412	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	82					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGTGACCCAGAGGATGACAG	0.522																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(244-246)Gag>Aag		PWP1 homolog (S. cerevisiae)							140.0	129.0	133.0					12																	108082504		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108082504G>A	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.244G>A	12.37:g.108082504G>A	ENSP00000387365:p.Glu82Lys					PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	p.E82K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			3	412	+			82					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.244G>A	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178588	0.38511	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70749	-0.5;-0.51	5.82	4.92	0.64577	.	0.296366	0.41396	D	0.000891	T	0.52773	0.1755	N	0.20357	0.565	0.30325	N	0.787161	B	0.06786	0.001	B	0.01281	0.0	T	0.42241	-0.9463	10	0.07990	T	0.79	.	14.0991	0.65042	0.0:0.2979:0.7021:0.0	.	82	Q13610	PWP1_HUMAN	K	82;20;82;82;82;20	ENSP00000387365:E82K;ENSP00000445249:E20K	ENSP00000258531:E82K	E	+	1	0	PWP1	106606634	1.000000	0.71417	0.063000	0.19743	0.792000	0.44763	4.115000	0.57865	1.414000	0.47017	0.579000	0.79373	GAG		0.522	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		54	191	0	0	0	1	0	54	191				
LHFPL5	222662	broad.mit.edu	37	6	35773690	35773690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35773690C>T	ENST00000373853.1	+	1	621	c.243C>T	c.(241-243)ggC>ggT	p.G81G	LHFPL5_ENST00000360215.1_Silent_p.G81G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	81					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCAAGGGCGGCCCCCTAG	0.572																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(241-243)ggC>ggT		lipoma HMGIC fusion partner-like 5							211.0	202.0	205.0					6																	35773690		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35773690C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.243C>T	6.37:g.35773690C>T						LHFPL5_ENST00000373853.1_Silent_p.G81G	p.G81G	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	620	+			81					B3KX66	Silent	SNP	ENST00000373853.1	37	c.243C>T	CCDS4812.1																																																																																				0.572	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		198	842	0	0	0	1	0	198	842				
HCAR2	338442	broad.mit.edu	37	12	123186899	123186899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123186899C>T	ENST00000328880.5	-	1	991	c.932G>A	c.(931-933)cGc>cAc	p.R311H	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	311			R -> C (in dbSNP:rs7314976). {ECO:0000269|Ref.4}.		negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CTGGAGGCAGCGGTTGATCAA	0.552																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(931-933)cGc>cAc		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						131.0	105.0	114.0					12																	123186899		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123186899C>T	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.932G>A	12.37:g.123186899C>T	ENSP00000375066:p.Arg311His					RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.R311H	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	991	-			311		R -> C (in dbSNP:rs7314976).			A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.932G>A	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554667	0.65425	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.39592	1.07	5.18	3.35	0.38373	.	0.391930	0.23183	U	0.050997	T	0.50701	0.1631	M	0.64404	1.975	0.30341	N	0.785752	D	0.89917	1.0	P	0.59288	0.855	T	0.49799	-0.8901	10	0.15066	T	0.55	-28.1761	10.4766	0.44667	0.0:0.8381:0.0:0.1619	.	311	Q8TDS4	HCAR2_HUMAN	H	311	ENSP00000375066:R311H	ENSP00000375066:R311H	R	-	2	0	HCAR2	121752852	1.000000	0.71417	0.995000	0.50966	0.835000	0.47333	1.305000	0.33493	0.836000	0.34901	0.563000	0.77884	CGC		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		81	356	0	0	0	1	0	81	356				
PLK3	1263	broad.mit.edu	37	1	45268516	45268516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45268516G>A	ENST00000372201.4	+	6	977	c.738G>A	c.(736-738)ctG>ctA	p.L246L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TATGGTCACTGGGCTGTGTCA	0.607																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(736-738)ctG>ctA		polo-like kinase 3							85.0	86.0	86.0					1																	45268516		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45268516G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.738G>A	1.37:g.45268516G>A						PLK3_ENST00000465443.1_3'UTR	p.L246L	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			6	977	+	Acute lymphoblastic leukemia(166;0.155)		246			Protein kinase.		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.738G>A	CCDS515.1																																																																																				0.607	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		9	343	0	0	0	1	0	9	343				
BROX	148362	broad.mit.edu	37	1	222898889	222898889	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222898889C>A	ENST00000340934.5	+	7	978	c.572C>A	c.(571-573)gCt>gAt	p.A191D	BROX_ENST00000537020.1_Missense_Mutation_p.A191D|BROX_ENST00000539697.1_Missense_Mutation_p.A159D	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	191	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						CAGGCTGAAGCTCAAGAAGGT	0.358																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(571-573)gCt>gAt		BRO1 domain and CAAX motif containing							87.0	85.0	86.0					1																	222898889		2203	4300	6503	SO:0001583	missense	148362					membrane		g.chr1:222898889C>A		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.572C>A	1.37:g.222898889C>A	ENSP00000343742:p.Ala191Asp					BROX_ENST00000537020.1_Missense_Mutation_p.A191D|BROX_ENST00000539697.1_Missense_Mutation_p.A159D	p.A191D	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			7	978	+			191			BRO1.		B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	c.572C>A	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	c	32	5.126259	0.94429	.	.	ENSG00000162819	ENST00000340934;ENST00000426638;ENST00000537020;ENST00000539697	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.54	5.54	0.83059	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80197	-0.1482	10	0.87932	D	0	-16.3568	19.8472	0.96713	0.0:1.0:0.0:0.0	.	191;159;191	F5GXQ0;B7Z9G5;Q5VW32	.;.;BROX_HUMAN	D	191;191;191;159	ENSP00000343742:A191D;ENSP00000398862:A191D;ENSP00000440041:A191D;ENSP00000441080:A159D	ENSP00000343742:A191D	A	+	2	0	BROX	220965512	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.768000	0.95171	0.650000	0.86243	GCT		0.358	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		9	295	1	0	3.09899e-07	1	3.21319e-07	9	295				
RGS7	6000	broad.mit.edu	37	1	240969500	240969500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240969500A>C	ENST00000407727.1	-	14	1208	c.1209T>G	c.(1207-1209)agT>agG	p.S403R	RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000366565.1_Missense_Mutation_p.S403R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000348120.2_Missense_Mutation_p.S350R|RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000366564.1_Missense_Mutation_p.S403R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	403	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTGTCATAACTCTTGGAAT	0.478																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1207-1209)agT>agG		regulator of G-protein signaling 7							200.0	175.0	184.0					1																	240969500		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240969500A>C	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1209T>G	1.37:g.240969500A>C	ENSP00000384428:p.Ser403Arg					RGS7_ENST00000366564.1_Missense_Mutation_p.S403R|RGS7_ENST00000348120.2_Missense_Mutation_p.S350R|RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R|RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000407727.1_Missense_Mutation_p.S403R	p.S403R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		15	1590	-		all_cancers(173;0.0131)	403			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1209T>G		.	.	.	.	.	.	.	.	.	.	A	21.2	4.119829	0.77323	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.95	2.34	0.29019	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.036320	0.85682	N	0.000000	T	0.10981	0.0268	M	0.87900	2.915	0.54753	D	0.999984	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.998;1.0;0.993;1.0	T	0.00389	-1.1770	10	0.87932	D	0	.	4.96	0.14061	0.5959:0.1587:0.2455:0.0	.	319;377;350;403;403;403;403	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	R	377;403;403;403;234;350;319;403;403;350	ENSP00000331485:S377R;ENSP00000355523:S403R;ENSP00000355522:S403R;ENSP00000355521:S403R;ENSP00000404399:S234R;ENSP00000341242:S350R;ENSP00000390138:S319R;ENSP00000355520:S403R;ENSP00000384428:S403R;ENSP00000385508:S350R	ENSP00000331485:S377R	S	-	3	2	RGS7	239036123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.096000	0.41738	0.524000	0.28502	0.528000	0.53228	AGT		0.478	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		125	386	0	0	0	1	0	125	386				
MYH13	8735	broad.mit.edu	37	17	10227477	10227477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10227477C>A	ENST00000418404.3	-	22	2959	c.2796G>T	c.(2794-2796)gaG>gaT	p.E932D	MYH13_ENST00000252172.4_Missense_Mutation_p.E932D|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	932					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTCTTCCTCTTCCAATC	0.458																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2794-2796)gaG>gaT		myosin, heavy chain 13, skeletal muscle							141.0	143.0	142.0					17																	10227477		2102	4237	6339	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10227477C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2796G>T	17.37:g.10227477C>A	ENSP00000404570:p.Glu932Asp					MYH13_ENST00000570743.1_Missense_Mutation_p.E932D|MYH13_ENST00000252172.4_Missense_Mutation_p.E932D|RP11-401O9.3_ENST00000577743.1_RNA	p.E932D			Q9UKX3	MYH13_HUMAN			22	2959	-			932					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2796G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.708326	0.00712	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.93659	-3.26	4.37	0.881	0.19166	.	.	.	.	.	T	0.74959	0.3785	N	0.02181	-0.65	0.31291	N	0.689455	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.68217	-0.5467	9	0.02654	T	1	.	3.4732	0.07575	0.2993:0.305:0.0:0.3957	.	558;932	B4DFX9;Q9UKX3	.;MYH13_HUMAN	D	932;558	ENSP00000252172:E932D	ENSP00000252172:E932D	E	-	3	2	MYH13	10168202	0.999000	0.42202	0.992000	0.48379	0.162000	0.22319	0.779000	0.26746	0.107000	0.17824	-0.302000	0.09304	GAG		0.458	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		64	297	1	0	3.94896e-32	1	4.66014e-32	64	297				
ANKRD26	22852	broad.mit.edu	37	10	27313378	27313378	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313378A>C	ENST00000376087.4	-	28	4248	c.4083T>G	c.(4081-4083)acT>acG	p.T1361T	ANKRD26_ENST00000376070.3_Silent_p.T918T|ANKRD26_ENST00000436985.2_Silent_p.T1377T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1360					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATCTTACCCAGTTATCTCTC	0.224																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(4081-4083)acT>acG		ankyrin repeat domain 26							61.0	60.0	61.0					10																	27313378		1777	4040	5817	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27313378A>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4083T>G	10.37:g.27313378A>C						ANKRD26_ENST00000376070.3_Silent_p.T918T|ANKRD26_ENST00000436985.2_Silent_p.T1377T	p.T1361T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			28	4248	-			1360					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.4083T>G	CCDS41499.1																																																																																				0.224	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			27	147	0	0	0	1	0	27	147				
HYPK	25764	broad.mit.edu	37	15	44088365	44088365	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44088365G>A	ENST00000406925.1	+	0	26				RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron|SERINC4_ENST00000249714.3_Silent_p.S132S|SERINC4_ENST00000299969.6_Missense_Mutation_p.A302V|SERINC4_ENST00000319327.6_Silent_p.S376S			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K							cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GAAACTCATAGCTGTAAACCT	0.468																																						ENST00000406925.1																			0													huntingtin interacting protein K							116.0	113.0	114.0					15																	44088365		2198	4298	6496			25764							g.chr15:44088365G>A	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.-4086G>A	15.37:g.44088365G>A						SERINC4_ENST00000249714.3_Silent_p.S132S|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000319327.6_Silent_p.S376S|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000299969.6_Missense_Mutation_p.A302V							GBM - Glioblastoma multiforme(94;8.1e-07)	0	26	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)						C9JKJ0|O75408|Q8WUW8|Q9P024	Translation_Start_Site	SNP	ENST00000406925.1	37		CCDS10104.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877537	0.33162	.	.	ENSG00000184716	ENST00000299969	T	0.26518	1.73	5.7	3.78	0.43462	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.80722	D	1	B	0.31077	0.307	B	0.28991	0.097	T	0.09618	-1.0666	8	0.02654	T	1	1.8637	10.4519	0.44526	0.0:0.2839:0.5776:0.1386	.	302	A6NM42	.	V	302	ENSP00000299969:A302V	ENSP00000299969:A302V	A	-	2	0	SERINC4	41875657	1.000000	0.71417	0.996000	0.52242	0.817000	0.46193	1.138000	0.31491	0.711000	0.32018	0.655000	0.94253	GCT		0.468	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		55	317	0	0	0	1	0	55	317				
IZUMO4	113177	broad.mit.edu	37	19	2098087	2098087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2098087G>A	ENST00000395301.3	+	5	498	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	IZUMO4_ENST00000588003.1_Intron|IZUMO4_ENST00000395307.2_Missense_Mutation_p.C145Y|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	145						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGCAACAACTGCACAGACTCG	0.637																																						ENST00000395307.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						c.(433-435)tGc>tAc		IZUMO family member 4							192.0	186.0	188.0					19																	2098087		2203	4300	6503	SO:0001583	missense	113177					extracellular region		g.chr19:2098087G>A	BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.434G>A	19.37:g.2098087G>A	ENSP00000378712:p.Cys145Tyr					IZUMO4_ENST00000395301.3_Missense_Mutation_p.C145Y|IZUMO4_ENST00000588003.1_Intron	p.C145Y	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN			5	999	+			145					A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	ENST00000395301.3	37	c.434G>A	CCDS42458.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571898	0.65765	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395301	T;T;T	0.63096	-0.02;-0.02;-0.02	3.69	3.69	0.42338	.	0.000000	0.40728	N	0.001030	T	0.66287	0.2774	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.70026	-0.4985	10	0.87932	D	0	-29.0525	11.6414	0.51235	0.0:0.0:1.0:0.0	.	145;145	A7RA93;Q1ZYL8	.;IZUM4_HUMAN	Y	192;145;145	ENSP00000378718:C192Y;ENSP00000300960:C145Y;ENSP00000378712:C145Y	ENSP00000300960:C145Y	C	+	2	0	IZUMO4	2049087	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.429000	0.59901	1.993000	0.58246	0.561000	0.74099	TGC		0.637	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280536.3	NM_052878		292	1316	0	0	0	1	0	292	1316				
AHCYL2	23382	broad.mit.edu	37	7	129019543	129019543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129019543C>T	ENST00000325006.3	+	2	482	c.428C>T	c.(427-429)tCt>tTt	p.S143F	AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	143					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGACGTCGCTCTTTGTCTCGT	0.428																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(427-429)tCt>tTt		adenosylhomocysteinase-like 2							110.0	94.0	99.0					7																	129019543		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129019543C>T	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.428C>T	7.37:g.129019543C>T	ENSP00000315931:p.Ser143Phe					AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F	p.S143F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			2	482	+			143					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.428C>T	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.035825|5.035825	0.93630|0.93630	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000460109;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.14;-1.12;-1.12;-1.12;-0.89	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83073|0.83073	0.5175|0.5175	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.76494	.|0.987;0.987;0.999;0.987;0.999	.|P;P;D;P;D	.|0.72338	.|0.878;0.878;0.949;0.878;0.977	D|D	0.85057|0.85057	0.0932|0.0932	5|10	.|0.87932	.|D	.|0	-14.9057|-14.9057	18.0999|18.0999	0.89503|0.89503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|40;41;143;40;142	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	F|F	50|143;142;62;41;40;41;40;41	.|ENSP00000315931:S143F;ENSP00000413639:S142F;ENSP00000431787:S62F;ENSP00000420459:S40F;ENSP00000405267:S41F;ENSP00000420801:S40F;ENSP00000419608:S41F	.|ENSP00000315931:S143F	L|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128806779|128806779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.696000|7.696000	0.84270|0.84270	2.527000|2.527000	0.85204|0.85204	0.555000|0.555000	0.69702|0.69702	CTT|TCT		0.428	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			35	155	0	0	0	1	0	35	155				
SDF2L1	23753	broad.mit.edu	37	22	21998296	21998296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21998296C>T	ENST00000248958.4	+	3	574	c.498C>T	c.(496-498)ggC>ggT	p.G166G	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	166	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				prostate(1)	1	Colorectal(54;0.105)					AGCATGTGGGCACCTCTGTGT	0.622											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248958.4																			0				prostate(1)	1						c.(496-498)ggC>ggT		stromal cell-derived factor 2-like 1							116.0	79.0	92.0					22																	21998296		2203	4300	6503	SO:0001819	synonymous_variant	23753					endoplasmic reticulum lumen|membrane		g.chr22:21998296C>T		CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228			10676	protein-coding gene	gene with protein product	"""dihydropyrimidinase-like 2"", ""PWP1-interacting protein 8"""	607551				10591208, 11162531	Standard	NM_022044		Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.498C>T	22.37:g.21998296C>T			OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.G166G	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN			3	574	+	Colorectal(54;0.105)		166			MIR 3.		A2RUD3|Q9BRI5	Silent	SNP	ENST00000248958.4	37	c.498C>T	CCDS13792.1																																																																																				0.622	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320197.1	NM_022044		31	173	0	0	0	1	0	31	173				
NOC3L	64318	broad.mit.edu	37	10	96100033	96100033	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96100033C>A	ENST00000371361.3	-	16	1880	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	NOC3L_ENST00000371350.1_Splice_Site_p.G594C|NOC3L_ENST00000543788.1_Splice_Site_p.G332C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	594					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACATACATACCTGCATGTAAT	0.299																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.e16+1		nucleolar complex associated 3 homolog (S. cerevisiae)							95.0	92.0	93.0					10																	96100033		2203	4298	6501	SO:0001630	splice_region_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96100033C>A	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1780+1G>T	10.37:g.96100033C>A						NOC3L_ENST00000543788.1_Splice_Site_p.G332_splice|NOC3L_ENST00000371350.1_Splice_Site_p.G594_splice	p.G594_splice	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			16	1880	-		Colorectal(252;0.0897)	594					Q9H5M6|Q9H9D8	Splice_Site	SNP	ENST00000371361.3	37	c.1780_splice	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344627	0.82022	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.30981	1.98;1.51;1.51	5.19	5.19	0.71726	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57734	-0.7760	9	.	.	.	-12.8635	19.0883	0.93215	0.0:1.0:0.0:0.0	.	594	Q8WTT2	NOC3L_HUMAN	C	332;594;594	ENSP00000437838:G332C;ENSP00000360412:G594C;ENSP00000360401:G594C	.	G	-	1	0	NOC3L	96090023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.626000	0.67777	2.596000	0.87737	0.655000	0.94253	GGT		0.299	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	Missense_Mutation	31	171	1	0	6.04164e-23	1	6.85534e-23	31	171				
NRP2	8828	broad.mit.edu	37	2	206590675	206590675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206590675C>T	ENST00000357785.5	+	6	890	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000360409.3_Missense_Mutation_p.R287W|NRP2_ENST00000412873.2_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAGTCTGGCCGGATTGCTAA	0.547																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(859-861)Cgg>Tgg		neuropilin 2							139.0	116.0	124.0					2																	206590675		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590675C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.859C>T	2.37:g.206590675C>T	ENSP00000350432:p.Arg287Trp					NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000357785.5_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W|NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000412873.2_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W	p.R287W	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			6	1650	+			287			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.859C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650759	0.67472	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	6.07	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.047005	0.85682	D	0.000000	D	0.97294	0.9115	L	0.56124	1.755	0.51012	D	0.999905	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	0.74023	0.963;0.963;0.982;0.98;0.98;0.919	D	0.96444	0.9329	10	0.66056	D	0.02	-15.2974	12.0479	0.53491	0.3823:0.5536:0.0:0.064	.	287;287;287;287;287;287	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	W	287	ENSP00000353582:R287W;ENSP00000439658:R287W;ENSP00000439261:R287W;ENSP00000347238:R287W;ENSP00000387519:R287W;ENSP00000349632:R287W;ENSP00000350432:R287W;ENSP00000407626:R287W;ENSP00000272849:R287W	ENSP00000272849:R287W	R	+	1	2	NRP2	206298920	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	1.166000	0.31834	0.387000	0.25024	-0.136000	0.14681	CGG		0.547	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			25	301	0	0	0	1	0	25	301				
MAP3K4	4216	broad.mit.edu	37	6	161470912	161470912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161470912G>A	ENST00000392142.4	+	3	1756	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000348824.7_Silent_p.Q536Q|MAP3K4_ENST00000366919.2_Silent_p.Q536Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	536					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTGAAGCAGATGGGGTTAA	0.443																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1606-1608)caG>caA		mitogen-activated protein kinase kinase kinase 4							80.0	85.0	83.0					6																	161470912		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470912G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1608G>A	6.37:g.161470912G>A						MAP3K4_ENST00000348824.7_Silent_p.Q536Q|MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000366919.2_Silent_p.Q536Q	p.Q536Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1756	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	536					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.1608G>A	CCDS34565.1																																																																																				0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			73	316	0	0	0	1	0	73	316				
MEGF10	84466	broad.mit.edu	37	5	126758443	126758443	+	Missense_Mutation	SNP	C	C	T	rs374111304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126758443C>T	ENST00000274473.6	+	14	1939	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	558	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGCCATTGCCGCTGCCTCCC	0.567																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1672-1674)Cgc>Tgc		multiple EGF-like-domains 10		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	31.0	30.0	30.0		1672	5.3	1.0	5		30	0,8600		0,0,4300	no	missense	MEGF10	NM_032446.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	558/1141	126758443	1,13005	2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126758443C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1672C>T	5.37:g.126758443C>T	ENSP00000274473:p.Arg558Cys					MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C	p.R558C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	14	1939	+		Prostate(80;0.165)	558			EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1672C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677266	0.68042	2.27E-4	0.0	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.28	5.28	0.74379	EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	L	0.51422	1.61	0.80722	D	1	B;B	0.16166	0.012;0.016	B;B	0.19946	0.005;0.027	T	0.34153	-0.9840	10	0.37606	T	0.19	-36.2978	19.2744	0.94026	0.0:1.0:0.0:0.0	.	558;558	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	558	ENSP00000423354:R558C;ENSP00000423195:R558C;ENSP00000416284:R558C;ENSP00000274473:R558C	ENSP00000274473:R558C	R	+	1	0	MEGF10	126786342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.059000	0.71133	2.636000	0.89361	0.650000	0.86243	CGC		0.567	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		34	179	0	0	0	1	0	34	179				
JAG1	182	broad.mit.edu	37	20	10621489	10621489	+	Silent	SNP	C	C	T	rs202075581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10621489C>T	ENST00000254958.5	-	25	3656	c.3141G>A	c.(3139-3141)tcG>tcA	p.S1047S	JAG1_ENST00000423891.2_Silent_p.S888S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1047					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGCAATCAGCGAGCTGTTTC	0.448									Alagille Syndrome				C|||	4	0.000798722	0.0	0.0	5008	,	,		20009	0.004		0.0	False		,,,				2504	0.0					ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3139-3141)tcG>tcA		jagged 1							113.0	100.0	104.0					20																	10621489		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10621489C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3141G>A	20.37:g.10621489C>T						JAG1_ENST00000423891.2_Silent_p.S888S	p.S1047S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			25	3656	-			1047					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.3141G>A	CCDS13112.1																																																																																				0.448	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		76	295	0	0	0	1	0	76	295				
HIST1H3B	8358	broad.mit.edu	37	6	26031956	26031956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26031956G>A	ENST00000244661.2	-	1	332	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	111					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATGGATGGCGCAAAGGTTTG	0.517																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(331-333)tgC>tgT		histone cluster 1, H3b							77.0	77.0	77.0					6																	26031956		2203	4300	6503	SO:0001819	synonymous_variant	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031956G>A	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.333C>T	6.37:g.26031956G>A							p.C111C	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	332	-			111					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	37	c.333C>T	CCDS4573.1																																																																																				0.517	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		94	311	0	0	0	1	0	94	311				
RBMXL2	27288	broad.mit.edu	37	11	7111361	7111361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111361C>T	ENST00000306904.5	+	1	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	337	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCGCTACTCGAGGGGCCGA	0.662																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1009-1011)tCg>tTg		RNA binding motif protein, X-linked-like 2							21.0	22.0	22.0					11																	7111361		2200	4295	6495	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111361C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1010C>T	11.37:g.7111361C>T	ENSP00000304139:p.Ser337Leu						p.S337L	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1197	+			337			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.1010C>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883498	0.51908	.	.	ENSG00000170748	ENST00000306904	T	0.77489	-1.1	3.73	2.81	0.32909	.	0.078186	0.53938	U	0.000043	T	0.67515	0.2901	L	0.39147	1.195	0.41031	D	0.985153	D	0.53619	0.961	B	0.40285	0.325	T	0.71364	-0.4615	10	0.62326	D	0.03	.	11.6572	0.51325	0.0:0.8191:0.1809:0.0	.	337	O75526	HNRGT_HUMAN	L	337	ENSP00000304139:S337L	ENSP00000304139:S337L	S	+	2	0	RBMXL2	7067937	0.999000	0.42202	0.896000	0.35187	0.880000	0.50808	4.144000	0.58057	1.129000	0.42072	0.563000	0.77884	TCG		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		27	156	0	0	0	1	0	27	156				
GNRHR	2798	broad.mit.edu	37	4	68610471	68610471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68610471C>T	ENST00000226413.4	-	2	581	c.557G>A	c.(556-558)aGc>aAc	p.S186N	SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	186					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTGTCCAGAGCTGTCTGCTAG	0.358																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(556-558)aGc>aAc		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						150.0	145.0	146.0					4																	68610471		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68610471C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.557G>A	4.37:g.68610471C>T	ENSP00000226413:p.Ser186Asn					RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Intron|RP11-453E17.1_ENST00000502758.1_RNA	p.S186N	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			2	581	-			186					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.557G>A	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020455	0.19433	.	.	ENSG00000109163	ENST00000226413	T	0.37752	1.18	5.29	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.648819	0.14767	N	0.299611	T	0.18509	0.0444	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.20519	T	0.43	1.8215	5.0319	0.14413	0.3642:0.4621:0.0:0.1736	.	186	P30968	GNRHR_HUMAN	N	186	ENSP00000226413:S186N	ENSP00000226413:S186N	S	-	2	0	GNRHR	68293066	0.000000	0.05858	0.001000	0.08648	0.791000	0.44710	-0.042000	0.12063	0.234000	0.21139	0.643000	0.83706	AGC		0.358	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			102	497	0	0	0	1	0	102	497				
DSC2	1824	broad.mit.edu	37	18	28662229	28662229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28662229T>C	ENST00000280904.6	-	9	1681	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	413	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AACTCCTTCATTGGTTTTGGC	0.294																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1237-1239)aAt>aGt		desmocollin 2							81.0	85.0	84.0					18																	28662229		2202	4296	6498	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662229T>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1238A>G	18.37:g.28662229T>C	ENSP00000280904:p.Asn413Ser					DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	p.N413S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		9	1681	-			413			Cadherin 3.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1238A>G	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344545	0.82022	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.38077	1.16;1.16	5.69	5.69	0.88448	Cadherin (5);Cadherin-like (1);	0.000000	0.34555	N	0.003875	T	0.65354	0.2683	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	T	0.72214	-0.4358	10	0.87932	D	0	.	14.9309	0.70914	0.0:0.0:0.0:1.0	.	413;413	Q02487;Q02487-2	DSC2_HUMAN;.	S	413;413;179;426	ENSP00000251081:N413S;ENSP00000280904:N413S	ENSP00000251081:N413S	N	-	2	0	DSC2	26916227	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.373000	0.79623	2.170000	0.68504	0.528000	0.53228	AAT		0.294	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		8	287	0	0	0	1	0	8	287				
XKR3	150165	broad.mit.edu	37	22	17265006	17265006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17265006C>A	ENST00000331428.5	-	4	985	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAATTATTTTCTTTGTTGCCA	0.423																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(883-885)Gaa>Taa		XK, Kell blood group complex subunit-related family, member 3							16.0	14.0	15.0					22																	17265006		1408	3377	4785	SO:0001587	stop_gained	150165					integral to membrane|plasma membrane		g.chr22:17265006C>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.883G>T	22.37:g.17265006C>A	ENSP00000331704:p.Glu295*						p.E295*	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			4	985	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	295					B2RPN1|Q52PG8|Q8N7E1	Nonsense_Mutation	SNP	ENST00000331428.5	37	c.883G>T	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.486806	0.44249	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.771	-0.572	0.11745	.	0.133902	0.47852	U	0.000212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.0931	0.14720	0.0:0.7434:0.0:0.2566	.	.	.	.	X	295	.	ENSP00000331704:E295X	E	-	1	0	XKR3	15645006	0.998000	0.40836	0.001000	0.08648	0.075000	0.17131	4.875000	0.63072	-0.093000	0.12396	0.297000	0.19635	GAA		0.423	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		10	187	1	0	2.98393e-07	1	3.0958e-07	10	187				
DSEL	92126	broad.mit.edu	37	18	65178816	65178816	+	Silent	SNP	C	C	A	rs139752903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178816C>A	ENST00000310045.7	-	2	4533	c.3060G>T	c.(3058-3060)acG>acT	p.T1020T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1010					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAGCTTTAACGTCCAGCTTC	0.418																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3058-3060)acG>acT		dermatan sulfate epimerase-like							78.0	82.0	80.0					18																	65178816		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178816C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3060G>T	18.37:g.65178816C>A						CTD-2541J13.2_ENST00000583493.1_RNA	p.T1020T	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4533	-		Esophageal squamous(42;0.129)	1010					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.3060G>T	CCDS11995.1																																																																																				0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		104	416	1	0	1.07597e-44	1	1.31721e-44	104	416				
LONP2	83752	broad.mit.edu	37	16	48381426	48381426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48381426G>A	ENST00000285737.4	+	13	2040	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	LONP2_ENST00000535754.1_Silent_p.Q605Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGTATCTCAGCGTTTGAGTC	0.498																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1945-1947)caG>caA		lon peptidase 2, peroxisomal							131.0	135.0	134.0					16																	48381426		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48381426G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1947G>A	16.37:g.48381426G>A						LONP2_ENST00000535754.1_Silent_p.Q605Q	p.Q649Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			13	2040	+			649						Silent	SNP	ENST00000285737.4	37	c.1947G>A	CCDS10734.1																																																																																				0.498	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		73	381	0	0	0	1	0	73	381				
XKR5	389610	broad.mit.edu	37	8	6681195	6681195	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6681195C>T	ENST00000518724.1	-	0	635							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GCCCATGAAGCGAGTGTAGGA	0.592																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5							22.0	25.0	24.0					8																	6681195		1987	4162	6149			389610					integral to membrane		g.chr8:6681195C>T	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6681195C>T										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	635	-								Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.592	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		7	29	0	0	0	1	0	7	29				
ENTPD4	9583	broad.mit.edu	37	8	23302059	23302059	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23302059T>C	ENST00000358689.4	-	5	708	c.473A>G	c.(472-474)aAc>aGc	p.N158S	ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S|ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	158					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGCAGCAAAGTTCAAAAGTGG	0.438																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(472-474)aAc>aGc		ectonucleoside triphosphate diphosphohydrolase 4							116.0	118.0	117.0					8																	23302059		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23302059T>C	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.473A>G	8.37:g.23302059T>C	ENSP00000351520:p.Asn158Ser					ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S|ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S	p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	5	708	-		Prostate(55;0.114)	158					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.473A>G	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	3.244	-0.154725	0.06544	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.79	0.318	0.15867	.	0.342519	0.40554	N	0.001071	T	0.02649	0.0080	N	0.00991	-1.07	0.23969	N	0.996317	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.46775	-0.9167	10	0.07482	T	0.82	-13.5026	10.1041	0.42521	0.0:0.3229:0.0:0.6771	.	158;158;158;158	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	S	158;158;158;124	ENSP00000348536:N158S;ENSP00000351520:N158S;ENSP00000408573:N158S;ENSP00000429455:N124S	ENSP00000348536:N158S	N	-	2	0	ENTPD4	23358004	0.999000	0.42202	0.995000	0.50966	0.991000	0.79684	0.624000	0.24462	0.126000	0.18424	0.460000	0.39030	AAC		0.438	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		90	330	0	0	0	1	0	90	330				
APC2	10297	broad.mit.edu	37	19	1465269	1465269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1465269G>A	ENST00000535453.1	+	14	3682	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.A383T|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.A657T			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGCAGCGCCCGTGACCA	0.652																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1969-1971)Gcc>Acc		adenomatosis polyposis coli 2							22.0	20.0	21.0					19																	1465269		2183	4289	6472	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465269G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1969G>A	19.37:g.1465269G>A	ENSP00000442954:p.Ala657Thr					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.A657T|APC2_ENST00000238483.4_Missense_Mutation_p.A383T	p.A657T			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3682	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	657					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1969G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528135	0.27299	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.65549	-0.16;0.83;-0.16	4.65	-2.29	0.06805	Armadillo-like helical (1);Armadillo-type fold (1);	0.405928	0.26262	N	0.025385	T	0.43567	0.1253	L	0.27053	0.805	0.80722	D	1	P;P	0.43231	0.801;0.7	B;B	0.31016	0.123;0.058	T	0.48958	-0.8988	10	0.45353	T	0.12	-12.6912	20.324	0.98686	0.0:0.2256:0.7744:0.0	.	656;657	O95996-3;O95996	.;APC2_HUMAN	T	657;383;657	ENSP00000233607:A657T;ENSP00000238483:A383T;ENSP00000442954:A657T	ENSP00000233607:A657T	A	+	1	0	APC2	1416269	0.070000	0.21116	0.532000	0.27989	0.255000	0.26057	-0.266000	0.08631	-0.246000	0.09611	0.462000	0.41574	GCC		0.652	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		22	120	0	0	0	1	0	22	120				
ZNF525	170958	broad.mit.edu	37	19	53884351	53884351	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53884351G>A	ENST00000355326.3	+	0	0				ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000467003.1_Silent_p.S137S|ZNF525_ENST00000474037.1_Silent_p.S173S			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						ATGCTTCCTCGGTTTCAACAG	0.373																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(409-411)tcG>tcA		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884351G>A	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884351G>A	Exception_encountered					ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Silent_p.S173S|ZNF525_ENST00000475179.1_Intron	p.S137S							4	612	+								Q8TF23	Silent	SNP	ENST00000355326.3	37	c.411G>A																																																																																					0.373	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		36	615	0	0	0	1	0	36	615				
TMEM184A	202915	broad.mit.edu	37	7	1590563	1590563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590563C>T	ENST00000297477.5	-	3	591	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	92					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGGAGCAGGCGGATGATGTA	0.627																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(274-276)cGc>cAc		transmembrane protein 184A							95.0	104.0	101.0					7																	1590563		2203	4300	6503	SO:0001583	missense	202915					integral to membrane		g.chr7:1590563C>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.275G>A	7.37:g.1590563C>T	ENSP00000297477:p.Arg92His						p.R92H	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	3	591	-		Ovarian(82;0.0253)	92					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.275G>A	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575764	0.65878	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.15	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.81346	0.4803	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87494	0.2429	10	0.87932	D	0	-5.0589	13.7268	0.62763	0.0:0.9248:0.0:0.0752	.	92	Q6ZMB5	T184A_HUMAN	H	92	ENSP00000297477:R92H;ENSP00000325945:R92H;ENSP00000398382:R92H;ENSP00000389092:R92H;ENSP00000403499:R92H	ENSP00000297477:R92H	R	-	2	0	TMEM184A	1557089	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.651000	0.83577	1.166000	0.42689	0.407000	0.27541	CGC		0.627	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		33	196	0	0	0	1	0	33	196				
DOPEY1	23033	broad.mit.edu	37	6	83810551	83810551	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83810551T>G	ENST00000349129.2	+	4	526	c.266T>G	c.(265-267)aTt>aGt	p.I89S	DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	89					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATATGAAATTATCTTCAAA	0.338																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(265-267)aTt>aGt		dopey family member 1							152.0	166.0	161.0					6																	83810551		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83810551T>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.266T>G	6.37:g.83810551T>G	ENSP00000195654:p.Ile89Ser					DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S	p.I89S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	4	526	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	89					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.266T>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890540	0.72524	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.24538	1.87;1.86;1.85	5.17	5.17	0.71159	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.38649	1.16	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.997	T	0.02885	-1.1098	10	0.32370	T	0.25	.	15.285	0.73822	0.0:0.0:0.0:1.0	.	89;89;89	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	89	ENSP00000195654:I89S;ENSP00000237163:I89S;ENSP00000358754:I89S	ENSP00000237163:I89S	I	+	2	0	DOPEY1	83867270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.602000	0.82796	2.071000	0.62044	0.482000	0.46254	ATT		0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		210	963	0	0	0	1	0	210	963				
OR5D16	390144	broad.mit.edu	37	11	55606577	55606577	+	Missense_Mutation	SNP	T	T	G	rs146679837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606577T>G	ENST00000378396.1	+	1	350	c.350T>G	c.(349-351)tTt>tGt	p.F117C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTAATTCTATTTGCGGTGATG	0.433																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(349-351)tTt>tGt		olfactory receptor, family 5, subfamily D, member 16							123.0	119.0	120.0					11																	55606577		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606577T>G	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.350T>G	11.37:g.55606577T>G	ENSP00000367649:p.Phe117Cys						p.F117C	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	350	+		all_epithelial(135;0.208)	117					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.350T>G	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.844326	0.51164	.	.	ENSG00000205029	ENST00000378396	T	0.01359	4.98	4.47	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03651	0.0104	L	0.36672	1.1	0.19575	N	0.999961	D	0.57257	0.979	P	0.61275	0.886	T	0.44174	-0.9345	9	0.87932	D	0	-27.7796	8.5801	0.33623	0.0:0.0997:0.0:0.9003	.	117	Q8NGK9	OR5DG_HUMAN	C	117	ENSP00000367649:F117C	ENSP00000367649:F117C	F	+	2	0	OR5D16	55363153	0.831000	0.29352	0.002000	0.10522	0.757000	0.42996	5.597000	0.67577	0.694000	0.31654	0.433000	0.28618	TTT		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		158	613	0	0	0	1	0	158	613				
HOMER1	9456	broad.mit.edu	37	5	78692711	78692711	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78692711T>G	ENST00000334082.6	-	8	2253	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	271					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTTCTTGTTTTAACCTTTCT	0.348																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(811-813)Aaa>Caa		homer homolog 1 (Drosophila)							126.0	112.0	117.0					5																	78692711		1822	4082	5904	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78692711T>G	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.811A>C	5.37:g.78692711T>G	ENSP00000334382:p.Lys271Gln					HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q|HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q|HOMER1_ENST00000508576.1_Intron	p.K271Q	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	8	2253	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	271					B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.811A>C	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675262	0.67928	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	T;T;T	0.76578	-1.03;3.33;-1.03	5.63	4.46	0.54185	.	0.041017	0.85682	D	0.000000	T	0.76723	0.4027	L	0.29908	0.895	0.51767	D	0.999936	D;B;P	0.63046	0.992;0.029;0.615	P;B;B	0.55923	0.787;0.064;0.269	T	0.78048	-0.2356	10	0.66056	D	0.02	-8.3933	11.4933	0.50394	0.1348:0.0:0.0:0.8652	.	97;141;271	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	Q	271;141;97	ENSP00000334382:K271Q;ENSP00000282260:K141Q;ENSP00000441587:K97Q	ENSP00000282260:K141Q	K	-	1	0	HOMER1	78728467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	1.046000	0.40249	0.533000	0.62120	AAA		0.348	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		25	97	0	0	0	1	0	25	97				
SMYD5	10322	broad.mit.edu	37	2	73450209	73450209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73450209A>G	ENST00000389501.4	+	8	796	c.751A>G	c.(751-753)Acc>Gcc	p.T251A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	251	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCTTGTTGGGACCAATGGCCA	0.483																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(751-753)Acc>Gcc		SMYD family member 5							159.0	157.0	158.0					2																	73450209		2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73450209A>G	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.751A>G	2.37:g.73450209A>G	ENSP00000374152:p.Thr251Ala						p.T251A	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			8	796	+			251			SET.		D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.751A>G	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838105	0.91117	.	.	ENSG00000135632	ENST00000389501	T	0.80653	-1.4	4.39	4.39	0.52855	SET domain (2);	0.094256	0.64402	D	0.000001	D	0.86276	0.5894	M	0.78049	2.395	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.83964	0.0323	10	0.14252	T	0.57	-18.4045	12.8616	0.57915	1.0:0.0:0.0:0.0	.	251	Q6GMV2	SMYD5_HUMAN	A	251	ENSP00000374152:T251A	ENSP00000374152:T251A	T	+	1	0	SMYD5	73303717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.175000	0.89684	1.995000	0.58328	0.402000	0.26972	ACC		0.483	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		220	615	0	0	0	1	0	220	615				
MSANTD3	91283	broad.mit.edu	37	9	103204553	103204553	+	Silent	SNP	C	C	T	rs191944797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103204553C>T	ENST00000395067.2	+	2	604	c.333C>T	c.(331-333)atC>atT	p.I111I	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_Silent_p.I111I|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R1C|TMEFF1_ENST00000334943.6_5'Flank	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	111								p.I111I(1)		endometrium(2)|lung(2)	4						AGGAGAAGATCGCCAGCATGC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15175	0.0		0.0	False		,,,				2504	0.0					ENST00000502978.1																			1	Substitution - coding silent(1)	p.I111I(1)	large_intestine(1)								c.(1-3)Cgc>Tgc									42.0	40.0	41.0					9																	103204553		2203	4300	6503	SO:0001819	synonymous_variant	0				multicellular organismal development	integral to membrane|plasma membrane		g.chr9:103204553C>T	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.333C>T	9.37:g.103204553C>T						MSANTD3_ENST00000395067.2_Silent_p.I111I|MSANTD3_ENST00000374885.1_Silent_p.I111I|MSANTD3_ENST00000489377.1_3'UTR	p.R1C	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN			1	1	+			0					B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.1C>T	CCDS6749.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.48	3.835139	0.71373	.	.	ENSG00000251349	ENST00000502978	.	.	.	5.92	-7.28	0.01456	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.46336	D	0.998998	.	.	.	.	.	.	T	0.59526	-0.7438	4	.	.	.	-7.9668	12.0214	0.53346	0.0:0.2342:0.0891:0.6767	.	.	.	.	C	1	.	.	R	+	1	0	C9orf30-TMEFF1	102244374	0.225000	0.23685	0.031000	0.17742	0.984000	0.73092	-0.948000	0.03897	-1.466000	0.01897	-0.302000	0.09304	CGC		0.582	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		77	256	0	0	0	1	0	77	256				
IGSF10	285313	broad.mit.edu	37	3	151166366	151166366	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151166366A>G	ENST00000282466.3	-	4	1402	c.1403T>C	c.(1402-1404)gTg>gCg	p.V468A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	468	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGTGTTTCACTGGCCTCAT	0.463																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1402-1404)gTg>gCg		immunoglobulin superfamily, member 10							228.0	206.0	214.0					3																	151166366		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166366A>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1403T>C	3.37:g.151166366A>G	ENSP00000282466:p.Val468Ala						p.V468A	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1402	-			468			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1403T>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019859	0.07634	.	.	ENSG00000152580	ENST00000282466	T	0.67345	-0.26	5.08	-5.93	0.02254	Immunoglobulin-like (1);	0.951725	0.08579	N	0.924933	T	0.34948	0.0915	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.38394	-0.9663	10	0.05620	T	0.96	.	3.7276	0.08481	0.2819:0.4251:0.0666:0.2264	.	468	Q6WRI0	IGS10_HUMAN	A	468	ENSP00000282466:V468A	ENSP00000282466:V468A	V	-	2	0	IGSF10	152649056	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.406000	0.07187	-0.821000	0.04312	0.454000	0.30748	GTG		0.463	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		116	527	0	0	0	1	0	116	527				
GAL3ST1	9514	broad.mit.edu	37	22	30951198	30951198	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951198G>A	ENST00000402321.1	-	3	1331	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	GAL3ST1_ENST00000402369.1_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000401975.1_Silent_p.N338N|GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	338					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCATGCGCTCGTTGGCATGGC	0.716																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1012-1014)aaC>aaT		galactose-3-O-sulfotransferase 1							21.0	22.0	22.0					22																	30951198		2200	4288	6488	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951198G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1014C>T	22.37:g.30951198G>A						GAL3ST1_ENST00000401975.1_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000402369.1_Silent_p.N338N	p.N338N			Q99999	G3ST1_HUMAN			3	1331	-			338					Q96C63	Silent	SNP	ENST00000402321.1	37	c.1014C>T	CCDS13879.1																																																																																				0.716	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		48	171	0	0	0	1	0	48	171				
TRMT61B	55006	broad.mit.edu	37	2	29093040	29093040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29093040G>T	ENST00000306108.5	-	1	127	c.104C>A	c.(103-105)gCt>gAt	p.A35D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	35					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CAGTGACCGAGCTCCCTCGAA	0.622																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(103-105)gCt>gAt		tRNA methyltransferase 61 homolog B (S. cerevisiae)							51.0	54.0	53.0					2																	29093040		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29093040G>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.104C>A	2.37:g.29093040G>T	ENSP00000302801:p.Ala35Asp						p.A35D	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	127	-			35					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.104C>A	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433373	0.62844	.	.	ENSG00000171103	ENST00000306108	T	0.55234	0.53	5.44	1.62	0.23740	.	0.418594	0.21374	N	0.075591	T	0.46521	0.1397	L	0.29908	0.895	0.09310	N	1	D;P	0.53462	0.96;0.933	P;P	0.53649	0.731;0.542	T	0.34153	-0.9840	10	0.72032	D	0.01	-5.5275	5.127	0.14890	0.2511:0.1498:0.599:0.0	.	35;35	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	35	ENSP00000302801:A35D	ENSP00000302801:A35D	A	-	2	0	TRMT61B	28946544	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	1.109000	0.31135	0.090000	0.17273	0.561000	0.74099	GCT		0.622	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		66	179	1	0	3.63617e-18	1	4.02878e-18	66	179				
NKTR	4820	broad.mit.edu	37	3	42681067	42681067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42681067C>T	ENST00000232978.8	+	13	4059	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1291					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACCGTAGACCAAGAAATCA	0.428																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3871-3873)Cca>Tca		natural killer-tumor recognition sequence							79.0	78.0	78.0					3																	42681067		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42681067C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3871C>T	3.37:g.42681067C>T	ENSP00000232978:p.Pro1291Ser					RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.P1291S	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	4059	+			1291						Missense_Mutation	SNP	ENST00000232978.8	37	c.3871C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165595	0.78339	.	.	ENSG00000114857	ENST00000232978	T	0.20069	2.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60229	-0.7304	10	0.87932	D	0	-17.7678	19.4228	0.94729	0.0:1.0:0.0:0.0	.	991;1291	Q6M1B8;P30414	.;NKTR_HUMAN	S	1291	ENSP00000232978:P1291S	ENSP00000232978:P1291S	P	+	1	0	NKTR	42656071	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.663000	0.90544	0.655000	0.94253	CCA		0.428	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		65	289	0	0	0	1	0	65	289				
FGFBP2	83888	broad.mit.edu	37	4	15964245	15964245	+	Missense_Mutation	SNP	C	C	T	rs138174664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964245C>T	ENST00000259989.6	-	1	614	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	170						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCAGCTCTTCCATCGAGTCC	0.602																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(508-510)Gaa>Aaa		fibroblast growth factor binding protein 2		C	LYS/GLU	0,4406		0,0,2203	159.0	149.0	153.0		508	-2.5	0.0	4	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FGFBP2	NM_031950.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	170/224	15964245	1,13005	2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964245C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.508G>A	4.37:g.15964245C>T	ENSP00000259989:p.Glu170Lys					FGFBP2_ENST00000509331.1_Intron	p.E170K	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	614	-			170						Missense_Mutation	SNP	ENST00000259989.6	37	c.508G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	6.345	0.431820	0.12045	0.0	1.16E-4	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.53	-2.46	0.06461	.	.	.	.	.	T	0.03095	0.0091	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	9	0.02654	T	1	.	7.0495	0.25065	0.0:0.1959:0.0:0.8041	.	170	Q9BYJ0	FGFP2_HUMAN	K	170	ENSP00000259989:E170K	ENSP00000259989:E170K	E	-	1	0	FGFBP2	15573343	0.778000	0.28640	0.001000	0.08648	0.002000	0.02628	0.891000	0.28309	-0.611000	0.05709	-0.302000	0.09304	GAA		0.602	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		56	979	0	0	0	1	0	56	979				
CCDC78	124093	broad.mit.edu	37	16	775563	775563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:775563G>A	ENST00000293889.6	-	4	390	c.285C>T	c.(283-285)agC>agT	p.S95S	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	95					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGTACCCGGCTCTCCAGCC	0.667																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(283-285)agC>agT		coiled-coil domain containing 78							38.0	38.0	38.0					16																	775563		2190	4296	6486	SO:0001819	synonymous_variant	124093							g.chr16:775563G>A	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.285C>T	16.37:g.775563G>A							p.S95S	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			4	390	-		Hepatocellular(780;0.0218)	95					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	ENST00000293889.6	37	c.285C>T	CCDS32353.1																																																																																				0.667	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		45	185	0	0	0	1	0	45	185				
GLIS2	84662	broad.mit.edu	37	16	4386911	4386911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4386911G>A	ENST00000262366.3	+	8	1782	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.V321M			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	321					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGCCACTTTGTGTCCCACGA	0.652																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(961-963)Gtg>Atg		GLIS family zinc finger 2							63.0	52.0	56.0					16																	4386911		2196	4297	6493	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4386911G>A	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.961G>A	16.37:g.4386911G>A	ENSP00000262366:p.Val321Met					RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.V321M	p.V321M			Q9BZE0	GLIS2_HUMAN			8	1782	+			321					B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.961G>A	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181623	0.78677	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.12361	2.69;2.69	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.12008	0.0292	N	0.24115	0.695	0.80722	D	1	P	0.45715	0.865	P	0.45913	0.497	T	0.02574	-1.1139	10	0.41790	T	0.15	.	9.0002	0.36077	0.157:0.0:0.843:0.0	.	321	Q9BZE0	GLIS2_HUMAN	M	321	ENSP00000262366:V321M;ENSP00000395547:V321M	ENSP00000262366:V321M	V	+	1	0	GLIS2	4326912	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	6.081000	0.71309	2.755000	0.94549	0.655000	0.94253	GTG		0.652	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		32	161	0	0	0	1	0	32	161				
ATMIN	23300	broad.mit.edu	37	16	81077122	81077122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81077122C>A	ENST00000299575.4	+	4	1043	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D	ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D|ATMIN_ENST00000566488.1_Missense_Mutation_p.A184D|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	340	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCACAGGGGCTGTGCACTTA	0.522																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(550-552)gCt>gAt		ATM interactor							56.0	57.0	56.0					16																	81077122		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077122C>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1019C>A	16.37:g.81077122C>A	ENSP00000299575:p.Ala340Asp					ATMIN_ENST00000299575.4_Missense_Mutation_p.A340D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D	p.A184D			O43313	ATMIN_HUMAN			3	1514	+			340					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.551C>A	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821537	0.50633	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.02974	4.09	5.93	5.93	0.95920	.	0.210337	0.49916	D	0.000122	T	0.07188	0.0182	M	0.65975	2.015	0.39799	D	0.972549	P	0.50272	0.933	B	0.41860	0.368	T	0.03231	-1.1058	10	0.87932	D	0	-14.4784	20.3539	0.98825	0.0:1.0:0.0:0.0	.	340	O43313	ATMIN_HUMAN	D	340;111	ENSP00000299575:A340D	ENSP00000299575:A340D	A	+	2	0	ATMIN	79634623	1.000000	0.71417	0.353000	0.25747	0.064000	0.16182	7.262000	0.78410	2.826000	0.97356	0.655000	0.94253	GCT		0.522	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		132	388	1	0	3.21211e-60	1	4.03831e-60	132	388				
NCDN	23154	broad.mit.edu	37	1	36026194	36026194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36026194C>T	ENST00000373243.2	+	3	825	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	NCDN_ENST00000356090.4_Missense_Mutation_p.R148C|NCDN_ENST00000373253.3_Missense_Mutation_p.R131C|NCDN_ENST00000459931.1_3'UTR	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	148					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGATGCTGCCCGCCGCTCCAT	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(442-444)Cgc>Tgc		neurochondrin							87.0	92.0	90.0					1																	36026194		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026194C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.442C>T	1.37:g.36026194C>T	ENSP00000362340:p.Arg148Cys					NCDN_ENST00000356090.4_Missense_Mutation_p.R148C|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.R131C	p.R148C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			3	825	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	148					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.442C>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414922	0.42817	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.75821	-0.97;-0.97;-0.97	5.51	5.51	0.81932	.	0.380726	0.28312	N	0.015812	T	0.54351	0.1853	N	0.08118	0	0.47245	D	0.99936	B	0.14012	0.009	B	0.09377	0.004	T	0.51942	-0.8641	10	0.35671	T	0.21	.	11.809	0.52171	0.0:0.9201:0.0:0.0799	.	148	Q9UBB6	NCDN_HUMAN	C	131;148;148;131	ENSP00000362350:R131C;ENSP00000348394:R148C;ENSP00000362340:R148C	ENSP00000348394:R148C	R	+	1	0	NCDN	35798781	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.985000	0.29578	2.586000	0.87340	0.561000	0.74099	CGC		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		37	958	0	0	0	1	0	37	958				
FAM20B	9917	broad.mit.edu	37	1	179033100	179033100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179033100C>T	ENST00000263733.4	+	5	949	c.613C>T	c.(613-615)Cga>Tga	p.R205*		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	205						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTATTACTGCCGAGAAACAGA	0.458																																						ENST00000263733.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						c.(613-615)Cga>Tga		family with sequence similarity 20, member B							144.0	132.0	136.0					1																	179033100		2203	4300	6503	SO:0001587	stop_gained	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179033100C>T	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.613C>T	1.37:g.179033100C>T	ENSP00000263733:p.Arg205*						p.R205*	NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN			5	949	+			205					Q5W0C3|Q5W0C4	Nonsense_Mutation	SNP	ENST00000263733.4	37	c.613C>T	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	C	39	7.452622	0.98292	.	.	ENSG00000116199	ENST00000263733	.	.	.	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-28.6331	15.266	0.73663	0.1414:0.8586:0.0:0.0	.	.	.	.	X	205	.	ENSP00000263733:R205X	R	+	1	2	FAM20B	177299723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.628000	0.54259	1.203000	0.43233	-0.182000	0.12963	CGA		0.458	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		18	668	0	0	0	1	0	18	668				
NRBP2	340371	broad.mit.edu	37	8	144919856	144919856	+	Silent	SNP	G	G	A	rs192975604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144919856G>A	ENST00000442628.2	-	11	1051	c.912C>T	c.(910-912)cgC>cgT	p.R304R	NRBP2_ENST00000327830.5_Silent_p.R61R	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGAAGAGCACGCGGTGGAAGA	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		13327	0.0		0.001	False		,,,				2504	0.0					ENST00000442628.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)	5						c.(910-912)cgC>cgT		nuclear receptor binding protein 2		G		0,4390		0,0,2195	28.0	33.0	31.0		912	-8.6	0.5	8		31	2,8576		0,2,4287	yes	coding-synonymous	NRBP2	NM_178564.3		0,2,6482	AA,AG,GG		0.0233,0.0,0.0154		304/502	144919856	2,12966	2195	4289	6484	SO:0001819	synonymous_variant	340371				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	g.chr8:144919856G>A	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.912C>T	8.37:g.144919856G>A						NRBP2_ENST00000327830.5_Silent_p.R61R	p.R304R	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1051	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		304			Protein kinase.			Silent	SNP	ENST00000442628.2	37	c.912C>T	CCDS34959.2																																																																																				0.692	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	NM_178564		6	42	0	0	0	1	0	6	42				
AHNAK	79026	broad.mit.edu	37	11	62299523	62299523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299523G>A	ENST00000378024.4	-	5	2640	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	789					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCAGGAGCAGTAACATC	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2365-2367)gCt>gTt		AHNAK nucleoprotein							139.0	144.0	142.0					11																	62299523		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299523G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2366C>T	11.37:g.62299523G>A	ENSP00000367263:p.Ala789Val					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.A789V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2640	-		Melanoma(852;0.155)	789					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2366C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	0.357	-0.941407	0.02322	.	.	ENSG00000124942	ENST00000378024	T	0.01015	5.44	5.46	0.183	0.15082	.	0.227351	0.25774	N	0.028383	T	0.00724	0.0024	N	0.16602	0.42	0.21950	N	0.999455	B	0.10296	0.003	B	0.19148	0.024	T	0.47812	-0.9088	10	0.30078	T	0.28	-5.7553	8.5539	0.33469	0.196:0.2085:0.5955:0.0	.	789	Q09666	AHNK_HUMAN	V	789	ENSP00000367263:A789V	ENSP00000367263:A789V	A	-	2	0	AHNAK	62056099	0.000000	0.05858	0.525000	0.27900	0.053000	0.15095	-1.663000	0.01968	-0.209000	0.10156	-1.360000	0.01215	GCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		176	820	0	0	0	1	0	176	820				
DCP1B	196513	broad.mit.edu	37	12	2062076	2062076	+	Missense_Mutation	SNP	G	G	A	rs202169607		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062076G>A	ENST00000280665.6	-	7	1109	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C|DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	344			R -> H (in dbSNP:rs715146).		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGTACACCACGAGAAGTTCCA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19623	0.0		0.001	False		,,,				2504	0.0					ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(1030-1032)Cgt>Tgt		decapping mRNA 1B							83.0	92.0	89.0					12																	2062076		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062076G>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1030C>T	12.37:g.2062076G>A	ENSP00000280665:p.Arg344Cys					DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C	p.R344C	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	1109	-			344		R -> H (in dbSNP:rs715146).			B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.1030C>T	CCDS31727.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.968	0.972216	0.18736	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18960	2.19;2.19;2.18	4.74	0.415	0.16411	.	0.779686	0.12137	N	0.496205	T	0.08980	0.0222	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.30238	-0.9985	10	0.49607	T	0.09	0.9252	8.1297	0.31020	0.4662:0.0:0.5338:0.0	.	242;344	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	C	344;242;218	ENSP00000280665:R344C;ENSP00000380358:R242C;ENSP00000444374:R218C	ENSP00000280665:R344C	R	-	1	0	DCP1B	1932337	0.010000	0.17322	0.000000	0.03702	0.005000	0.04900	0.617000	0.24359	-0.104000	0.12154	-0.137000	0.14449	CGT		0.507	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		86	310	0	0	0	1	0	86	310				
ASAH1	427	broad.mit.edu	37	8	17917112	17917112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17917112G>A	ENST00000262097.6	-	11	1197	c.886C>T	c.(886-888)Cga>Tga	p.R296*	ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*|ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	296					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTTCTGTCTCGTGTAATCACA	0.388																																						ENST00000262097.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(886-888)Cga>Tga		N-acylsphingosine amidohydrolase (acid ceramidase) 1							157.0	155.0	156.0					8																	17917112		2203	4300	6503	SO:0001587	stop_gained	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17917112G>A	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.886C>T	8.37:g.17917112G>A	ENSP00000262097:p.Arg296*					ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*	p.R296*	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	11	1197	-			296					E9PDS0|Q6W898|Q96AS2	Nonsense_Mutation	SNP	ENST00000262097.6	37	c.886C>T	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	37	6.373901	0.97515	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	.	.	.	5.11	3.25	0.37280	.	0.097792	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4388	13.7377	0.62829	0.0:0.0:0.6919:0.3081	.	.	.	.	X	296;312;271;206;290	.	ENSP00000262097:R296X	R	-	1	2	ASAH1	17961392	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	4.721000	0.61951	0.799000	0.34018	0.655000	0.94253	CGA		0.388	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		97	521	0	0	0	1	0	97	521				
PEX14	5195	broad.mit.edu	37	1	10689807	10689807	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689807C>T	ENST00000356607.4	+	9	977	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PEX14_ENST00000538836.1_Silent_p.G235G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	299					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAGGAAGGCGAGGGGGTGG	0.657																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(895-897)ggC>ggT		peroxisomal biogenesis factor 14							126.0	116.0	119.0					1																	10689807		2191	4290	6481	SO:0001819	synonymous_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10689807C>T	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.897C>T	1.37:g.10689807C>T						PEX14_ENST00000538836.1_Silent_p.G235G	p.G299G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	977	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	299					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	c.897C>T	CCDS30582.1																																																																																				0.657	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			14	55	0	0	0	1	0	14	55				
CCDC74A	90557	broad.mit.edu	37	2	132290277	132290277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290277C>T	ENST00000295171.6	+	5	937	c.799C>T	c.(799-801)Cga>Tga	p.R267*	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTTCCCCTGCGAAAGCCCAC	0.642																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(799-801)Cga>Tga		coiled-coil domain containing 74A							78.0	81.0	80.0					2																	132290277		2203	4300	6503	SO:0001587	stop_gained	90557							g.chr2:132290277C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.799C>T	2.37:g.132290277C>T	ENSP00000295171:p.Arg267*					CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*	p.R267*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	937	+			267					Q6P4I5	Nonsense_Mutation	SNP	ENST00000295171.6	37	c.799C>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	16.06	3.014665	0.54468	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	.	.	.	2.66	2.66	0.31614	.	0.235784	0.21781	U	0.069216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0698	0.36486	0.0:1.0:0.0:0.0	.	.	.	.	X	267;201	.	ENSP00000295171:R267X	R	+	1	2	CCDC74A	132006747	1.000000	0.71417	0.995000	0.50966	0.059000	0.15707	2.382000	0.44345	1.192000	0.43071	0.194000	0.17425	CGA		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		64	673	0	0	0	1	0	64	673				
NME2	4831	broad.mit.edu	37	17	49244308	49244308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49244308G>A	ENST00000393193.2	+	5	539	c.462G>A	c.(460-462)aaG>aaA	p.K154K	NME2_ENST00000376392.6_Silent_p.K154K|NME2_ENST00000555572.1_Silent_p.K179K|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME1-NME2_ENST00000393198.3_Silent_p.K154K|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME1-NME2_ENST00000393185.1_5'UTR|NME1-NME2_ENST00000608447.1_Silent_p.K179K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME1-NME2_ENST00000503064.1_Silent_p.K39K|NME1-NME2_ENST00000514264.2_Silent_p.K39K			P22392	NDKB_HUMAN	NME/NM23 nucleoside diphosphate kinase 2	39					cell adhesion (GO:0007155)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of apoptotic process (GO:0043066)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside triphosphate biosynthetic process (GO:0009142)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|UTP biosynthetic process (GO:0006228)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)|protein histidine kinase activity (GO:0004673)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	TGGCCATGAAGTTCCTCCGGG	0.667											OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(49;809 1203 4404 15246)	ENST00000555572.1																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(535-537)aaG>aaA		NME/NM23 nucleoside diphosphate kinase 2							60.0	53.0	55.0					17																	49244308		2203	4299	6502	SO:0001819	synonymous_variant	4831							g.chr17:49244308G>A	X58965	CCDS11580.1, CCDS74107.1	17q21.33	2013-04-29	2012-05-18		ENSG00000011052	ENSG00000011052			7850	protein-coding gene	gene with protein product		156491	"""non-metastatic cells 2, protein (NM23B) expressed in"""			1988104, 19852809	Standard	NM_001018137		Approved	NM23-H2, NDPKB		P22392	OTTHUMG00000154062	ENST00000393193.2:c.462G>A	17.37:g.49244308G>A			OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	NME2_ENST00000376392.6_Silent_p.K154K|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME2_ENST00000393183.3_5'UTR|NME2_ENST00000393193.2_Silent_p.K154K|NME2_ENST00000393185.1_5'UTR|NME2_ENST00000393198.2_Silent_p.K39K|NME1-NME2_ENST00000514264.2_Silent_p.K39K|NME1-NME2_ENST00000503064.1_Silent_p.K39K	p.K179K					BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		6	713	+								A8MWA3|Q1WM23|Q6LCT6	Silent	SNP	ENST00000393193.2	37	c.537G>A	CCDS32682.1																																																																																				0.667	NME2-001	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000268664.2	NM_002512		65	367	0	0	0	1	0	65	367				
POLM	27434	broad.mit.edu	37	7	44118348	44118348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44118348C>A	ENST00000242248.5	-	5	806	c.705G>T	c.(703-705)caG>caT	p.Q235H	POLM_ENST00000335195.6_Missense_Mutation_p.Q235H|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	235					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTTCATGGTCTGGTACCTCT	0.607								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(703-705)caG>caT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							145.0	98.0	114.0					7																	44118348		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44118348C>A	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.705G>T	7.37:g.44118348C>A	ENSP00000242248:p.Gln235His					POLM_ENST00000395831.3_Intron|POLM_ENST00000335195.6_Missense_Mutation_p.Q235H	p.Q235H	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			5	806	-			235					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.705G>T	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861878	0.51482	.	.	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.47177	2.38;0.85	5.91	4.12	0.48240	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (1);	.	.	.	.	T	0.56906	0.2017	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.63880	0.958;0.963;0.993;0.987	P;P;P;P	0.56823	0.748;0.662;0.807;0.739	T	0.58092	-0.7697	9	0.66056	D	0.02	.	9.1492	0.36953	0.0:0.8334:0.0:0.1666	.	202;235;235;235	B4DG75;Q6PIY2;Q6P5X8;Q9NP87	.;.;.;DPOLM_HUMAN	H	235	ENSP00000335141:Q235H;ENSP00000242248:Q235H	ENSP00000242248:Q235H	Q	-	3	2	POLM	44084873	0.995000	0.38212	0.987000	0.45799	0.947000	0.59692	0.638000	0.24674	0.851000	0.35264	0.650000	0.86243	CAG		0.607	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		59	305	1	0	6.70656e-16	1	7.34664e-16	59	305				
PIWIL2	55124	broad.mit.edu	37	8	22168639	22168639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22168639C>A	ENST00000454009.2	+	16	2324	c.1815C>A	c.(1813-1815)ttC>ttA	p.F605L	PIWIL2_ENST00000356766.6_Missense_Mutation_p.F605L|PIWIL2_ENST00000521356.1_Missense_Mutation_p.F605L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	605					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)		CCATGCATTTCTGGGCACTTT	0.418																																						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.(1813-1815)ttC>ttA		piwi-like RNA-mediated gene silencing 2							97.0	101.0	100.0					8																	22168639		2203	4300	6503	SO:0001583	missense	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.chr8:22168639C>A	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.1815C>A	8.37:g.22168639C>A	ENSP00000406956:p.Phe605Leu					PIWIL2_ENST00000521356.1_Missense_Mutation_p.F605L|PIWIL2_ENST00000454009.2_Missense_Mutation_p.F605L	p.F605L	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	16	1963	+			605					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1815C>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	9.487	1.099794	0.20552	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.08102	3.13;3.13;3.13	5.8	4.01	0.46588	Ribonuclease H-like (1);	0.270137	0.43416	D	0.000575	T	0.08626	0.0214	M	0.63428	1.95	0.38202	D	0.940228	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.14117	-1.0484	10	0.09590	T	0.72	-1.5471	8.6361	0.33948	0.0:0.7649:0.0:0.2351	.	605;605	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	605	ENSP00000349208:F605L;ENSP00000428267:F605L;ENSP00000406956:F605L	ENSP00000349208:F605L	F	+	3	2	PIWIL2	22224584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.638000	0.37165	0.798000	0.33994	0.561000	0.74099	TTC		0.418	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			118	499	1	0	2.91707e-64	1	3.68505e-64	118	499				
SIGLEC1	6614	broad.mit.edu	37	20	3673553	3673553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673553C>A	ENST00000344754.4	-	14	3733	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1245	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCCAGAGGGCTGCGGGCAGA	0.677																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3733-3735)aGc>aTc		sialic acid binding Ig-like lectin 1, sialoadhesin							29.0	31.0	30.0					20																	3673553		2201	4298	6499	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673553C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3734G>T	20.37:g.3673553C>A	ENSP00000341141:p.Ser1245Ile					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	p.S1245I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3733	-			1245			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3734G>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.160567|3.160567	0.57368|0.57368	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.75477	.|-0.94;-0.94	4.98|4.98	1.38|1.38	0.22167|0.22167	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.335011	.|0.21929	.|N	.|0.067045	T|T	0.80292|0.80292	0.4596|0.4596	M|M	0.67397|0.67397	2.05|2.05	0.31063|0.31063	N|N	0.713953|0.713953	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.992	T|T	0.75783|0.75783	-0.3196|-0.3196	5|10	.|0.52906	.|T	.|0.07	.|.	5.6007|5.6007	0.17351|0.17351	0.0:0.5714:0.0:0.4286|0.0:0.5714:0.0:0.4286	.|.	.|1245;1245	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	58|1245	.|ENSP00000341141:S1245I;ENSP00000202578:S1245I	.|ENSP00000202578:S1245I	Q|S	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621553|3621553	0.001000|0.001000	0.12720|0.12720	0.969000|0.969000	0.41365|0.41365	0.888000|0.888000	0.51559|0.51559	-0.278000|-0.278000	0.08490|0.08490	0.514000|0.514000	0.28300|0.28300	-0.140000|-0.140000	0.14226|0.14226	CAG|AGC		0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		20	317	1	0	1.33834e-09	1	1.40959e-09	20	317				
SPTBN2	6712	broad.mit.edu	37	11	66455061	66455061	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66455061G>A	ENST00000533211.1	-	35	6890	c.6559C>T	c.(6559-6561)Cgg>Tgg	p.R2187W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2187					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGGGCCCCGAGTCCGGGTC	0.672																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6559-6561)Cgg>Tgg		spectrin, beta, non-erythrocytic 2							25.0	32.0	29.0					11																	66455061		2197	4293	6490	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66455061G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6559C>T	11.37:g.66455061G>A	ENSP00000432568:p.Arg2187Trp					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W	p.R2187W			O15020	SPTN2_HUMAN			35	6890	-			2187					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6559C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741130	0.69304	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.72051	-0.61;-0.61;-0.62	5.04	5.04	0.67666	.	0.880280	0.09922	N	0.738306	T	0.69424	0.3109	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.57468	0.821	T	0.62647	-0.6810	10	0.66056	D	0.02	.	13.0913	0.59167	0.0:0.1615:0.8385:0.0	.	2187	O15020	SPTN2_HUMAN	W	2187;2187;2187;731	ENSP00000432568:R2187W;ENSP00000311489:R2187W;ENSP00000433593:R2187W	ENSP00000311489:R2187W	R	-	1	2	SPTBN2	66211637	0.000000	0.05858	0.101000	0.21167	0.642000	0.38348	0.244000	0.18124	2.629000	0.89072	0.655000	0.94253	CGG		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		47	200	0	0	0	1	0	47	200				
MISP	126353	broad.mit.edu	37	19	758345	758345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:758345C>T	ENST00000215582.6	+	2	1502	c.1399C>T	c.(1399-1401)Ccg>Tcg	p.P467S		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	467					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CACGATGTCCCCGAGGCATCT	0.612																																						ENST00000215582.6																			0											c.(1399-1401)Ccg>Tcg		mitotic spindle positioning							51.0	44.0	46.0					19																	758345		2203	4300	6503	SO:0001583	missense	126353							g.chr19:758345C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1399C>T	19.37:g.758345C>T	ENSP00000215582:p.Pro467Ser						p.P467S	NM_173481.2	NP_775752.1					2	1502	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.1399C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646140	0.03531	.	.	ENSG00000099812	ENST00000215582	T	0.27890	1.64	3.81	2.76	0.32466	.	3.298150	0.01039	N	0.004271	T	0.32496	0.0831	L	0.54323	1.7	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.16897	-1.0387	10	0.37606	T	0.19	-0.007	7.1168	0.25421	0.0:0.7252:0.173:0.1017	.	467	Q8IVT2	CS021_HUMAN	S	467	ENSP00000215582:P467S	ENSP00000215582:P467S	P	+	1	0	C19orf21	709345	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.216000	0.17585	0.886000	0.36113	-0.339000	0.08088	CCG		0.612	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		55	231	0	0	0	1	0	55	231				
IGHV3-33	28434	broad.mit.edu	37	14	106815818	106815818	+	RNA	SNP	G	G	A	rs574148108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106815818G>A	ENST00000390615.2	-	0	334									immunoglobulin heavy variable 3-33																		TGGTGAATCGGCCCTTCACGG	0.522																																						ENST00000390615.2																			0																				118.0	150.0	140.0					14																	106815818		1912	4076	5988			0							g.chr14:106815818G>A	L06618		14q32.33	2012-02-10			ENSG00000211955	ENSG00000211955		"""Immunoglobulins / IGH locus"""	5596	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152077		14.37:g.106815818G>A														0	334	-									RNA	SNP	ENST00000390615.2	37																																																																																						0.522	IGHV3-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325171.1	NG_001019		31	476	0	0	0	1	0	31	476				
CAMK1G	57172	broad.mit.edu	37	1	209783265	209783265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209783265G>T	ENST00000009105.1	+	9	1063	c.818G>T	c.(817-819)aGt>aTt	p.S273I	CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAGGCCTTGAGTCATCCCTGG	0.498																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(817-819)aGt>aTt		calcium/calmodulin-dependent protein kinase IG							161.0	135.0	144.0					1																	209783265		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209783265G>T		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.818G>T	1.37:g.209783265G>T	ENSP00000009105:p.Ser273Ile					CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I	p.S273I			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	9	1063	+			273			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.818G>T	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620103	0.46736	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.66460	-0.21;-0.21	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.195621	0.36101	N	0.002785	T	0.64011	0.2560	M	0.67625	2.065	0.26610	N	0.972854	B;B	0.12630	0.006;0.002	B;B	0.11329	0.006;0.006	T	0.60850	-0.7181	10	0.62326	D	0.03	.	11.7699	0.51951	0.0818:0.0:0.9182:0.0	.	273;273	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	I	273	ENSP00000009105:S273I;ENSP00000354861:S273I	ENSP00000009105:S273I	S	+	2	0	CAMK1G	207849888	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.297000	0.43593	2.383000	0.81215	0.313000	0.20887	AGT		0.498	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		49	232	1	0	5.39261e-20	1	6.03032e-20	49	232				
PRKAR1B	5575	broad.mit.edu	37	7	624175	624175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:624175C>T	ENST00000406797.1	-	8	913	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)	p.E247K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGAACTCCTCGTACATCTTG	0.567																																						ENST00000406797.1																			1	Substitution - Missense(1)	p.E247K(1)	lung(1)	endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(739-741)Gag>Aag		protein kinase, cAMP-dependent, regulatory, type I, beta							151.0	108.0	122.0					7																	624175		2202	4295	6497	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:624175C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.739G>A	7.37:g.624175C>T	ENSP00000385749:p.Glu247Lys					PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K	p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	8	913	-		Ovarian(82;0.0779)	247					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.739G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963462	0.74016	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;1.63	4.96	4.96	0.65561	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.75620	0.3874	M	0.78801	2.425	0.80722	D	1	B	0.24483	0.104	B	0.12837	0.008	T	0.76124	-0.3074	10	0.66056	D	0.02	-5.8001	17.0165	0.86421	0.0:1.0:0.0:0.0	.	247	P31321	KAP1_HUMAN	K	247;247;247;247;247;12;247	ENSP00000440449:E247K;ENSP00000444487:E247K;ENSP00000385749:E247K;ENSP00000385349:E247K;ENSP00000353415:E247K;ENSP00000402648:E247K	ENSP00000340984:E12K	E	-	1	0	PRKAR1B	590701	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.690000	0.61731	2.296000	0.77279	0.638000	0.83543	GAG		0.567	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			19	132	0	0	0	1	0	19	132				
AGAP1	116987	broad.mit.edu	37	2	236626223	236626223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236626223G>T	ENST00000304032.8	+	3	825	c.245G>T	c.(244-246)aGc>aTc	p.S82I	AGAP1_ENST00000409538.1_Missense_Mutation_p.S347I|AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	82	Small GTPase-like.		S -> G (in an autistic patient). {ECO:0000269|PubMed:15892143}.		protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACTTGGCCAGCGGCAAGTCT	0.478																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1039-1041)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							95.0	89.0	91.0					2																	236626223		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236626223G>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.245G>T	2.37:g.236626223G>T	ENSP00000307634:p.Ser82Ile					AGAP1_ENST00000304032.7_Missense_Mutation_p.S82I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I|AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I	p.S347I			Q9UPQ3	AGAP1_HUMAN			3	1536	+			82			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1040G>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182524	0.94885	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.0	5.0	0.66597	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.62105	-0.6924	10	0.87932	D	0	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	82;82	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	82;82;82;29;347	ENSP00000387174:S82I;ENSP00000307634:S82I;ENSP00000338378:S82I;ENSP00000385492:S29I;ENSP00000386897:S347I	ENSP00000307634:S82I	S	+	2	0	AGAP1	236290962	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.685000	0.98661	2.488000	0.83962	0.655000	0.94253	AGC		0.478	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		63	265	1	0	9.5628e-27	1	1.10398e-26	63	265				
HERC2P3	283755	broad.mit.edu	37	15	20643866	20643866	+	RNA	SNP	G	G	A	rs533131138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20643866G>A	ENST00000428453.1	-	0	3593							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GATTCAATGGGCAAACGTGAC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		9211	0.0		0.0	False		,,,				2504	0.0					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															82.0	69.0	73.0					15																	20643866		2187	4269	6456			0							g.chr15:20643866G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643866G>A														0	3593	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.468	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		63	463	0	0	0	1	0	63	463				
FASTKD2	22868	broad.mit.edu	37	2	207655375	207655375	+	Missense_Mutation	SNP	C	C	T	rs186489901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207655375C>T	ENST00000236980.6	+	11	2326	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	660	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TATGAAAATGCGGCATTTGAA	0.368													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19485	0.0		0.0	False		,,,				2504	0.0					ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(1978-1980)Cgg>Tgg		FAST kinase domains 2		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	165.0	166.0	166.0		1978,1978,1978	5.0	1.0	2		166	0,8600		0,0,4300	no	missense,missense,missense	FASTKD2	NM_001136193.1,NM_001136194.1,NM_014929.3	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	660/711,660/711,660/711	207655375	1,13005	2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207655375C>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1978C>T	2.37:g.207655375C>T	ENSP00000236980:p.Arg660Trp					FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W	p.R660W	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	11	2326	+			660			RAP.		Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.1978C>T	CCDS2371.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.255743	0.80135	2.27E-4	0.0	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.54866	0.55;0.55;0.55	5.96	5.04	0.67666	RAP domain (3);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.83118	2.625	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.75596	-0.3263	10	0.87932	D	0	-5.9807	11.5783	0.50877	0.2574:0.7426:0.0:0.0	.	660	Q9NYY8	FAKD2_HUMAN	W	660	ENSP00000236980:R660W;ENSP00000385990:R660W;ENSP00000384929:R660W	ENSP00000236980:R660W	R	+	1	2	FASTKD2	207363620	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	0.806000	0.27126	2.832000	0.97577	0.655000	0.94253	CGG		0.368	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		85	628	0	0	0	1	0	85	628				
CCAR2	57805	broad.mit.edu	37	8	22475262	22475262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22475262G>T	ENST00000308511.4	+	16	2293	c.2044G>T	c.(2044-2046)Gag>Tag	p.E682*	CCAR2_ENST00000520861.1_Nonsense_Mutation_p.E357*|CCAR2_ENST00000389279.3_Nonsense_Mutation_p.E682*|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	682					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AAACCAGTCAGAGATGGAGTT	0.572																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(2044-2046)Gag>Tag									189.0	178.0	181.0					8																	22475262		2203	4300	6503	SO:0001587	stop_gained	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22475262G>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2044G>T	8.37:g.22475262G>T	ENSP00000310670:p.Glu682*					KIAA1967_ENST00000520861.1_Nonsense_Mutation_p.E357*|KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.E682*	p.E682*			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	16	2293	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	682					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Nonsense_Mutation	SNP	ENST00000308511.4	37	c.2044G>T	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.772398|10.772398	0.99465|0.99465	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.078963|.	0.53938|.	D|.	0.000056|.	.|T	.|0.71685	.|0.3369	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72587	.|-0.4248	.|3	0.17369|.	T|.	0.5|.	-27.246|-27.246	15.6866|15.6866	0.77415|0.77415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	682;682;357|373	.|.	ENSP00000310670:E682X|.	E|Q	+|+	1|3	0|2	KIAA1967|KIAA1967	22531207|22531207	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	5.207000|5.207000	0.65197|0.65197	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.572	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		89	533	1	0	9.24773e-40	1	1.11906e-39	89	533				
CARNS1	57571	broad.mit.edu	37	11	67186961	67186961	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67186961G>T	ENST00000307823.3	+	5	939	c.487G>T	c.(487-489)Gct>Tct	p.A163S	CARNS1_ENST00000423745.2_Missense_Mutation_p.A163S|CARNS1_ENST00000445895.2_Missense_Mutation_p.A286S|CARNS1_ENST00000531040.1_Missense_Mutation_p.A286S	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	163					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCTGCAGGTAGCTGTGAAGCT	0.672																																						ENST00000445895.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						c.(856-858)Gct>Tct		carnosine synthase 1							14.0	17.0	16.0					11																	67186961		2021	4179	6200	SO:0001583	missense	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67186961G>T		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.487G>T	11.37:g.67186961G>T	ENSP00000308268:p.Ala163Ser					CARNS1_ENST00000307823.3_Missense_Mutation_p.A163S|CARNS1_ENST00000531040.1_Missense_Mutation_p.A286S|CARNS1_ENST00000423745.2_Missense_Mutation_p.A163S	p.A286S			A5YM72	CRNS1_HUMAN			5	970	+			163					A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	c.856G>T	CCDS44658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231727|4.231727	0.79688|0.79688	.|.	.|.	ENSG00000172508|ENSG00000172531	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895|ENST00000451458;ENST00000546202;ENST00000542876	T;T;T;T|T;T	0.38240|0.51817	1.15;1.15;1.15;1.16|0.87;0.69	5.29|5.29	4.37|4.37	0.52481|0.52481	.|.	.|.	.|.	.|.	.|.	T|T	0.34106|0.34106	0.0886|0.0886	N|N	0.24115|0.24115	0.695|0.695	0.26746|0.26746	N|N	0.970297|0.970297	D;P;D|B	0.67145|0.19583	0.996;0.948;0.996|0.037	P;P;P|B	0.60609|0.12156	0.877;0.588;0.877|0.007	T|T	0.20075|0.20075	-1.0286|-1.0286	9|9	0.59425|0.40728	D|T	0.04|0.16	.|.	11.0196|11.0196	0.47709|0.47709	0.0887:0.0:0.9113:0.0|0.0887:0.0:0.9113:0.0	.|.	286;163;302|88	F5H427;A5YM72;A5YM72-3|E9PDP1	.;CRNS1_HUMAN;.|.	S|R	286;163;286;163;286|88	ENSP00000431670:A286S;ENSP00000308268:A163S;ENSP00000401519:A163S;ENSP00000389009:A286S|ENSP00000439568:S88R;ENSP00000438409:S88R	ENSP00000308268:A163S|ENSP00000405603:S88R	A|S	+|-	1|3	0|2	CARNS1|PPP1CA	66943537|66943537	0.765000|0.765000	0.28485|0.28485	0.894000|0.894000	0.35097|0.35097	0.962000|0.962000	0.63368|0.63368	2.944000|2.944000	0.49034|0.49034	1.235000|1.235000	0.43724|0.43724	0.462000|0.462000	0.41574|0.41574	GCT|AGC		0.672	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		4	98	1	0	0.014758	1	0.0148251	4	98				
FOXB2	442425	broad.mit.edu	37	9	79635075	79635075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79635075C>T	ENST00000376708.1	+	1	505	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	169	Poly-Pro.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						gccgccgccgccgcccccgcc	0.701																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(505-507)Ccg>Tcg		forkhead box B2							3.0	6.0	5.0					9																	79635075		1149	2759	3908	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635075C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.505C>T	9.37:g.79635075C>T	ENSP00000365898:p.Pro169Ser						p.P169S	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	505	+			169			Poly-Pro.			Missense_Mutation	SNP	ENST00000376708.1	37	c.505C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	8.575	0.881054	0.17467	.	.	ENSG00000204612	ENST00000376708	T	0.47869	0.83	3.04	3.04	0.35103	.	1.888570	0.02789	N	0.121804	T	0.29749	0.0743	N	0.08118	0	0.35303	D	0.78321	.	.	.	.	.	.	T	0.25606	-1.0127	8	0.06365	T	0.9	.	11.8789	0.52562	0.0:1.0:0.0:0.0	.	169	Q5VYV0	FOXB2_HUMAN	S	169	ENSP00000365898:P169S	ENSP00000365898:P169S	P	+	1	0	FOXB2	78824895	0.000000	0.05858	0.983000	0.44433	0.875000	0.50365	-0.005000	0.12855	1.417000	0.47077	0.313000	0.20887	CCG		0.701	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		17	81	0	0	0	1	0	17	81				
MUSK	4593	broad.mit.edu	37	9	113538230	113538230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113538230A>C	ENST00000374448.4	+	10	1481	c.1347A>C	c.(1345-1347)agA>agC	p.R449S	MUSK_ENST00000374438.1_Missense_Mutation_p.T41P|MUSK_ENST00000189978.5_Missense_Mutation_p.R449S|MUSK_ENST00000416899.2_Missense_Mutation_p.R449S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	449	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGTGCCAGACTGCCACATC	0.468																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1345-1347)agA>agC		muscle, skeletal, receptor tyrosine kinase							133.0	130.0	131.0					9																	113538230		1916	4130	6046	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113538230A>C	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1347A>C	9.37:g.113538230A>C	ENSP00000363571:p.Arg449Ser					MUSK_ENST00000374448.4_Missense_Mutation_p.R449S|MUSK_ENST00000374438.1_Missense_Mutation_p.T41P|MUSK_ENST00000189978.5_Missense_Mutation_p.R449S	p.R449S			O15146	MUSK_HUMAN			9	1473	+			449			FZ.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1347A>C	CCDS48005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.10|11.10	1.538820|1.538820	0.27475|0.27475	.|.	.|.	ENSG00000030304|ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899|ENST00000374441;ENST00000374438	T|D	0.74315|0.81739	-0.83|-1.53	5.74|5.74	4.61|4.61	0.57282|0.57282	Frizzled domain (1);|.	0.323968|.	0.36740|.	N|.	0.002427|.	T|T	0.78432|0.78432	0.4282|0.4282	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.75969|0.75969	-0.3130|-0.3130	10|7	0.49607|0.46703	T|T	0.09|0.11	.|.	7.9543|7.9543	0.30033|0.30033	0.8412:0.0:0.1588:0.0|0.8412:0.0:0.1588:0.0	.|.	449|.	O15146|.	MUSK_HUMAN|.	S|P	455;449;449;371;371;455|41	ENSP00000363571:R449S|ENSP00000363561:T41P	ENSP00000189978:R455S|ENSP00000363561:T41P	R|T	+|+	3|1	2|0	MUSK|MUSK	112578051|112578051	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.534000|0.534000	0.34807|0.34807	1.197000|1.197000	0.32211|0.32211	1.009000|1.009000	0.39289|0.39289	0.459000|0.459000	0.35465|0.35465	AGA|ACT		0.468	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				114	574	0	0	0	1	0	114	574				
CCDC170	80129	broad.mit.edu	37	6	151907104	151907104	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151907104C>T	ENST00000239374.7	+	7	1272	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	CCDC170_ENST00000367290.5_Silent_p.L391L	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	391																	AGAAAGCTCTCCAGAGGGCCC	0.493																																						ENST00000367290.5																			0											c.(1171-1173)ctC>ctT		coiled-coil domain containing 170							63.0	60.0	61.0					6																	151907104		1878	4118	5996	SO:0001819	synonymous_variant	80129							g.chr6:151907104C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1173C>T	6.37:g.151907104C>T						CCDC170_ENST00000239374.7_Silent_p.L391L	p.L391L			Q8IYT3	CF097_HUMAN			7	1262	+			391					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.1173C>T	CCDS43515.1																																																																																				0.493	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		35	89	0	0	0	1	0	35	89				
NCR1	9437	broad.mit.edu	37	19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55423572C>T	ENST00000291890.4	+	6	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_ENST00000338835.5_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(715-717)aCg>aTg		natural cytotoxicity triggering receptor 1							129.0	121.0	124.0					19																	55423572		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55423572C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.719C>T	19.37:g.55423572C>T	ENSP00000291890:p.Thr240Met					NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M	p.T239M			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	6	741	+			240					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.716C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	NCR1	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG		0.512	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			88	422	0	0	0	1	0	88	422				
DSE	29940	broad.mit.edu	37	6	116747782	116747782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747782C>T	ENST00000331677.3	+	4	906	c.462C>T	c.(460-462)tcC>tcT	p.S154S	DSE_ENST00000606265.1_3'UTR|DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000359564.2_Silent_p.S154S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	154					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGCTCACTCCCTGGTTGGTT	0.448																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(460-462)tcC>tcT		dermatan sulfate epimerase							108.0	99.0	102.0					6																	116747782		2203	4300	6503	SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116747782C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.462C>T	6.37:g.116747782C>T						DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000359564.2_Silent_p.S154S|DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000606265.1_3'UTR	p.S154S			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	4	906	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	154					Q5R3K6	Silent	SNP	ENST00000331677.3	37	c.462C>T	CCDS5107.1																																																																																				0.448	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		91	397	0	0	0	1	0	91	397				
SLC16A13	201232	broad.mit.edu	37	17	6941494	6941494	+	Missense_Mutation	SNP	G	G	A	rs201987923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941494G>A	ENST00000308027.6	+	3	675	c.367G>A	c.(367-369)Gct>Act	p.A123T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	123						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TTTGACCTTCGCTCCGACCCT	0.587																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(367-369)Gct>Act		solute carrier family 16, member 13							83.0	81.0	82.0					17																	6941494		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941494G>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.367G>A	17.37:g.6941494G>A	ENSP00000309751:p.Ala123Thr						p.A123T	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	675	+			123					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.367G>A	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446434	0.12223	.	.	ENSG00000174327	ENST00000308027	T	0.57436	0.4	5.39	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.159139	0.56097	N	0.000030	T	0.15176	0.0366	N	0.00864	-1.135	0.27525	N	0.951288	B	0.02656	0.0	B	0.04013	0.001	T	0.32079	-0.9920	10	0.02654	T	1	.	3.697	0.08368	0.7016:0.0:0.1083:0.19	.	123	Q7RTY0	MOT13_HUMAN	T	123	ENSP00000309751:A123T	ENSP00000309751:A123T	A	+	1	0	SLC16A13	6882218	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.698000	0.47068	0.919000	0.36945	0.563000	0.77884	GCT		0.587	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			73	326	0	0	0	1	0	73	326				
STK11IP	114790	broad.mit.edu	37	2	220473436	220473436	+	Nonsense_Mutation	SNP	C	C	T	rs369193971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473436C>T	ENST00000456909.1	+	15	1825	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R590*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	590	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTTGGAGCGACTGGAGCT	0.657																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1735-1737)Cga>Tga		serine/threonine kinase 11 interacting protein							30.0	35.0	33.0					2																	220473436		1994	4162	6156	SO:0001587	stop_gained	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473436C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1735C>T	2.37:g.220473436C>T	ENSP00000389383:p.Arg579*					STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R590*	p.R579*			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1825	+		Renal(207;0.0183)	590			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	37	c.1735C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.930152	0.97944	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	.	.	.	4.21	3.32	0.38043	.	0.164085	0.36482	N	0.002580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8113	9.2282	0.37421	0.3935:0.6065:0.0:0.0	.	.	.	.	X	579;558;590	.	ENSP00000295641:R590X	R	+	1	2	STK11IP	220181680	0.991000	0.36638	0.935000	0.37517	0.769000	0.43574	2.815000	0.48018	0.961000	0.38030	0.561000	0.74099	CGA		0.657	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		10	138	0	0	0	1	0	10	138				
DOCK10	55619	broad.mit.edu	37	2	225637950	225637950	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225637950A>C	ENST00000258390.7	-	53	6195	c.6128T>G	c.(6127-6129)cTt>cGt	p.L2043R	DOCK10_ENST00000409592.3_Missense_Mutation_p.L2037R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2043	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGCTGATTAAGCTCAGAAAC	0.458																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(6109-6111)cTt>cGt		dedicator of cytokinesis 10							132.0	127.0	128.0					2																	225637950		2125	4252	6377	SO:0001583	missense	55619						GTP binding	g.chr2:225637950A>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6128T>G	2.37:g.225637950A>C	ENSP00000258390:p.Leu2043Arg					DOCK10_ENST00000258390.7_Missense_Mutation_p.L2043R	p.L2037R			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	53	6223	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	2043			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.6110T>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722240	0.89298	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.39592	1.07;1.07	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.80625	-0.1299	10	0.87932	D	0	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	2043;2037;705	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	R	2037;2043;550	ENSP00000386694:L2037R;ENSP00000258390:L2043R	ENSP00000258390:L2043R	L	-	2	0	DOCK10	225346194	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	8.962000	0.93254	2.145000	0.66743	0.533000	0.62120	CTT		0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			52	173	0	0	0	1	0	52	173				
NR2F1	7025	broad.mit.edu	37	5	92923924	92923924	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:92923924C>A	ENST00000327111.3	+	2	2452	c.765C>A	c.(763-765)acC>acA	p.T255T	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	255					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|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)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TACGCCTCACCTGGAGCGAGC	0.687																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(763-765)acC>acA		nuclear receptor subfamily 2, group F, member 1							70.0	67.0	68.0					5																	92923924		2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923924C>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.765C>A	5.37:g.92923924C>A							p.T255T	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2452	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	255						Silent	SNP	ENST00000327111.3	37	c.765C>A	CCDS4068.1																																																																																				0.687	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		89	372	1	0	1.42536e-29	1	1.66628e-29	89	372				
PPP5D1	100506012	broad.mit.edu	37	19	47028947	47028947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47028947C>T	ENST00000414155.1	-	3	560	c.330G>A	c.(328-330)aaG>aaA	p.K110K				E7EU14	PP5D1_HUMAN	PPP5 tetratricopeptide repeat domain containing 1	110																	GGTGCAGTTTCTTCTGGTCCT	0.582																																						ENST00000414155.1																			0											c.(328-330)aaG>aaA		PPP5 tetratricopeptide repeat domain containing 1																																				SO:0001819	synonymous_variant	100506012							g.chr19:47028947C>T			19q13.32	2013-01-11	2012-07-20		ENSG00000230510	ENSG00000230510		"""Tetratricopeptide (TTC) repeat domain containing"""	44209	protein-coding gene	gene with protein product							Standard	NM_001205281		Approved		uc021uwg.1	E7EU14		ENST00000414155.1:c.330G>A	19.37:g.47028947C>T							p.K110K							3	560	-								B3KSW5	Silent	SNP	ENST00000414155.1	37	c.330G>A																																																																																					0.582	PPP5D1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466560.1	NM_001205281		18	106	0	0	0	1	0	18	106				
DOCK5	80005	broad.mit.edu	37	8	25246651	25246651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25246651G>A	ENST00000276440.7	+	41	4220	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1392	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGGCGAGAGGACTTCAGCC	0.502																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4174-4176)gaG>gaA		dedicator of cytokinesis 5							122.0	106.0	112.0					8																	25246651		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25246651G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4176G>A	8.37:g.25246651G>A							p.E1392E	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	41	4220	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1392			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.4176G>A	CCDS6047.1																																																																																				0.502	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		68	245	0	0	0	1	0	68	245				
DNAH1	25981	broad.mit.edu	37	3	52360312	52360312	+	Missense_Mutation	SNP	G	G	A	rs200051758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360312G>A	ENST00000420323.2	+	4	824	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	188	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCATCCTCGCAAGATTGAG	0.642																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(562-564)cGc>cAc		dynein, axonemal, heavy chain 1							34.0	38.0	37.0					3																	52360312		2077	4205	6282	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52360312G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.563G>A	3.37:g.52360312G>A	ENSP00000401514:p.Arg188His						p.R188H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	4	824	+			188			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.563G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381376	0.95945	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000133	T	0.67088	0.2856	M	0.69823	2.125	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67608	-0.5627	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	188;188	C9JXH6;Q9P2D7-3	.;.	H	188	ENSP00000401514:R188H	ENSP00000401514:R188H	R	+	2	0	DNAH1	52335352	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.608000	0.90895	2.813000	0.96785	0.561000	0.74099	CGC		0.642	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		8	118	0	0	0	1	0	8	118				
MUC4	4585	broad.mit.edu	37	3	195515849	195515849	+	Missense_Mutation	SNP	C	C	T	rs373816796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195515849C>T	ENST00000463781.3	-	2	3061	c.2602G>A	c.(2602-2604)Gtc>Atc	p.V868I	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V868I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	873	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGCCGGGGACGATCGAAGAC	0.592																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2602-2604)Gtc>Atc		mucin 4, cell surface associated			ILE/VAL,,	0,4186		0,0,2093	62.0	66.0	65.0		2602,,	-2.4	0.0	3		65	1,8383		0,1,4191	no	missense,intron,intron	MUC4	NM_018406.6,NM_004532.5,NM_138297.4	29,,	0,1,6284	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging,,	868/5413,,	195515849	1,12569	2093	4192	6285	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515849C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2602G>A	3.37:g.195515849C>T	ENSP00000417498:p.Val868Ile					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V868I|MUC4_ENST00000349607.4_Intron	p.V868I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3061	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	873			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2602G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	7.090	0.572023	0.13623	0.0	1.19E-4	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.43294	0.95;0.97	2.78	-2.37	0.06643	.	7.098020	0.00166	N	0.000007	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	P;B	0.35011	0.48;0.313	B;B	0.21151	0.033;0.011	T	0.04413	-1.0953	10	0.38643	T	0.18	-0.0129	0.5162	0.00604	0.1795:0.2872:0.1764:0.3569	.	868;873	E7ESK3;Q99102	.;MUC4_HUMAN	I	868;868;842	ENSP00000417498:V868I;ENSP00000420243:V868I	ENSP00000376209:V842I	V	-	1	0	MUC4	197000244	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-3.563000	0.00430	-0.661000	0.05345	0.579000	0.79373	GTC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		25	136	0	0	0	1	0	25	136				
NID1	4811	broad.mit.edu	37	1	236157030	236157030	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157030G>A	ENST00000264187.6	-	13	2752	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	NID1_ENST00000366595.3_Silent_p.H757H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	890	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CGGTGCTGCCGTGGCACTGGG	0.711																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2668-2670)caC>caT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						25.0	25.0	25.0					1																	236157030		2202	4299	6501	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236157030G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2670C>T	1.37:g.236157030G>A						NID1_ENST00000366595.3_Silent_p.H757H	p.H890H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2752	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	890			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.2670C>T	CCDS1608.1																																																																																				0.711	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		47	125	0	0	0	1	0	47	125				
FDFT1	2222	broad.mit.edu	37	8	11667339	11667339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11667339G>A	ENST00000220584.4	+	3	583	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	121					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGATCGCCAGGTGCTGGAGGA	0.507																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(361-363)Gtg>Atg		farnesyl-diphosphate farnesyltransferase 1							89.0	70.0	77.0					8																	11667339		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11667339G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.361G>A	8.37:g.11667339G>A	ENSP00000220584:p.Val121Met					FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M|FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M	p.V121M	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	3	583	+	all_epithelial(15;0.234)		121					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.361G>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826881	0.90955	.	.	ENSG00000079459	ENST00000538689;ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;D;T;T;T;T;T	0.82255	-0.99;-0.99;-0.99;-1.59;-0.99;-0.99;-0.99;-0.99;-0.99	4.71	4.71	0.59529	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.91563	0.7335	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.995;0.995	D	0.92624	0.6110	10	0.72032	D	0.01	-34.0136	17.1687	0.86822	0.0:0.0:1.0:0.0	.	121;178;114;121	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	M	10;121;121;121;114;57;57;36;36	ENSP00000444248:V10M;ENSP00000431852:V121M;ENSP00000220584:V121M;ENSP00000390367:V121M;ENSP00000434714:V114M;ENSP00000431749:V57M;ENSP00000432331:V57M;ENSP00000431649:V36M;ENSP00000436069:V36M	ENSP00000220584:V121M	V	+	1	0	FDFT1	11704748	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.302000	0.96175	2.602000	0.87976	0.491000	0.48974	GTG		0.507	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			37	167	0	0	0	1	0	37	167				
ESCO1	114799	broad.mit.edu	37	18	19154572	19154572	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19154572T>G	ENST00000269214.5	-	4	1170	c.233A>C	c.(232-234)aAa>aCa	p.K78T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	78					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTTAGTAGCTTTATCATTAGA	0.323																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(232-234)aAa>aCa		establishment of sister chromatid cohesion N-acetyltransferase 1							164.0	172.0	169.0					18																	19154572		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154572T>G	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.233A>C	18.37:g.19154572T>G	ENSP00000269214:p.Lys78Thr						p.K78T	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	1170	-			78					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.233A>C	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470443	0.04445	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.61510	0.1;1.66	5.73	3.32	0.38043	.	0.327087	0.28778	N	0.014166	T	0.41880	0.1178	L	0.40543	1.245	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.21930	-1.0231	10	0.17369	T	0.5	-5.9998	6.6306	0.22855	0.1365:0.0721:0.0:0.7914	.	78	Q5FWF5	ESCO1_HUMAN	T	78	ENSP00000269214:K78T;ENSP00000372763:K78T	ENSP00000269214:K78T	K	-	2	0	ESCO1	17408570	0.998000	0.40836	0.005000	0.12908	0.039000	0.13416	1.947000	0.40293	0.515000	0.28320	0.533000	0.62120	AAA		0.323	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		205	815	0	0	0	1	0	205	815				
MMRN1	22915	broad.mit.edu	37	4	90872841	90872841	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90872841A>G	ENST00000394980.1	+	8	3523	c.3204A>G	c.(3202-3204)agA>agG	p.R1068R	MMRN1_ENST00000508372.1_Silent_p.R810R|MMRN1_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000264790.2_Silent_p.R1068R			Q13201	MMRN1_HUMAN	multimerin 1	1068	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGCCTGCAGACATCCTTTTA	0.433																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3202-3204)agA>agG		multimerin 1							114.0	97.0	103.0					4																	90872841		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90872841A>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3204A>G	4.37:g.90872841A>G						MMRN1_ENST00000508372.1_Silent_p.R810R|MMRN1_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000264790.2_Silent_p.R1068R	p.R1068R			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3523	+		Hepatocellular(203;0.114)	1068			EGF-like.		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.3204A>G	CCDS3635.1																																																																																				0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		58	275	0	0	0	1	0	58	275				
GRHL2	79977	broad.mit.edu	37	8	102611284	102611284	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102611284G>A	ENST00000251808.3	+	8	1341		c.e8-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TAATGTTACAGCCGATTACAA	0.368																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e8-1		grainyhead-like 2 (Drosophila)							87.0	81.0	83.0					8																	102611284		2203	4300	6503	SO:0001630	splice_region_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102611284G>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1004-1G>A	8.37:g.102611284G>A						GRHL2_ENST00000395927.1_Splice_Site		NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		8	1341	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)							A1L303|Q6NT03|Q9H8B8	Splice_Site	SNP	ENST00000251808.3	37		CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905809	0.92107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL2	102680460	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.725000	0.98778	2.861000	0.98227	0.655000	0.94253	.		0.368	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	Intron	14	158	0	0	0	1	0	14	158				
SFMBT1	51460	broad.mit.edu	37	3	52955765	52955765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52955765G>A	ENST00000394752.3	-	11	1596	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I|SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	405					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGCAGTGATGGTAGCAACACA	0.493																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1213-1215)aCc>aTc		Scm-like with four mbt domains 1							178.0	172.0	174.0					3																	52955765		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52955765G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1214C>T	3.37:g.52955765G>A	ENSP00000378235:p.Thr405Ile					SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I|SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I	p.T405I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	11	1596	-			405					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.1214C>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333359	0.81801	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.43	5.43	0.79202	.	0.053289	0.85682	D	0.000000	T	0.77968	0.4210	M	0.93720	3.45	0.58432	D	0.999999	P;D	0.57257	0.948;0.979	P;P	0.58660	0.66;0.843	T	0.83142	-0.0108	10	0.62326	D	0.03	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	405;405	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	I	405	ENSP00000378235:T405I;ENSP00000350789:T405I;ENSP00000296295:T405I;ENSP00000378233:T405I	ENSP00000296295:T405I	T	-	2	0	SFMBT1	52930805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.972000	0.56838	2.824000	0.97209	0.655000	0.94253	ACC		0.493	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		181	774	0	0	0	1	0	181	774				
FGD4	121512	broad.mit.edu	37	12	32772647	32772647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772647C>A	ENST00000427716.2	+	11	1778	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000531134.1_Missense_Mutation_p.L537M	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	452	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAACATGTTGCTGTACTGTGT	0.393																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1354-1356)Ctg>Atg		FYVE, RhoGEF and PH domain containing 4							125.0	117.0	120.0					12																	32772647		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32772647C>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1354C>A	12.37:g.32772647C>A	ENSP00000394487:p.Leu452Met					FGD4_ENST00000531134.1_Missense_Mutation_p.L537M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M	p.L452M	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			11	1778	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		452			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1354C>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294195	0.60086	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-1.65	5.67	4.78	0.61160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41294	D	0.000909	D	0.95532	0.8548	M	0.89414	3.03	0.43657	D	0.99607	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.996	D	0.95778	0.8814	10	0.87932	D	0	-10.4131	11.6996	0.51562	0.0:0.8583:0.0:0.1417	.	564;537;452;204	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	M	589;537;452;204;359;564;204	ENSP00000449273:L589M;ENSP00000431323:L537M;ENSP00000394487:L452M;ENSP00000266482:L204M;ENSP00000446695:L359M;ENSP00000433666:L564M;ENSP00000370413:L204M	ENSP00000266482:L204M	L	+	1	2	FGD4	32663914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.843000	0.48238	1.385000	0.46445	0.655000	0.94253	CTG		0.393	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		106	440	1	0	4.4634e-40	1	5.40684e-40	106	440				
MGA	23269	broad.mit.edu	37	15	41991346	41991346	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41991346G>T	ENST00000570161.1	+	4	2177	c.2177G>T	c.(2176-2178)gGt>gTt	p.G726V	MGA_ENST00000566586.1_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000219905.7_Missense_Mutation_p.G726V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACATCCTGGTCTTCAAGAA	0.373																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2176-2178)gGt>gTt		MGA, MAX dimerization protein							66.0	61.0	63.0					15																	41991346		1832	4077	5909	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41991346G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2177G>T	15.37:g.41991346G>T	ENSP00000457035:p.Gly726Val					MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000570161.1_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000566586.1_Missense_Mutation_p.G726V	p.G726V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	5	2358	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	726					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.2177G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422001	0.25639	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.34275	1.37;1.37;1.37	4.81	3.87	0.44632	.	3.584270	0.00424	N	0.000070	T	0.26955	0.0660	N	0.08118	0	0.43471	D	0.995682	B;B	0.17268	0.021;0.001	B;B	0.17722	0.019;0.002	T	0.01810	-1.1269	10	0.32370	T	0.25	.	12.9702	0.58508	0.0:0.1692:0.8308:0.0	.	726;726	F5H7K2;E7ENI0	.;.	V	726	ENSP00000219905:G726V;ENSP00000374586:G726V;ENSP00000442467:G726V	ENSP00000219905:G726V	G	+	2	0	MGA	39778638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.051000	0.41307	0.967000	0.38186	0.561000	0.74099	GGT		0.373	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		16	93	1	0	5.01169e-05	1	5.1097e-05	16	93				
DHRS13	147015	broad.mit.edu	37	17	27228272	27228272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228272G>A	ENST00000378895.4	-	4	544	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Missense_Mutation_p.R90W|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	140						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTTCACCCGAAGCAGCAGG	0.602																																						ENST00000394901.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(268-270)Cgg>Tgg		dehydrogenase/reductase (SDR family) member 13							78.0	78.0	78.0					17																	27228272		2203	4300	6503	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228272G>A	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.418C>T	17.37:g.27228272G>A	ENSP00000368173:p.Arg140Trp					DHRS13_ENST00000378895.4_Missense_Mutation_p.R140W|DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W	p.R90W			Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		3	660	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		140					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.268C>T	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386410	0.82902	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.90133	-2.62;-2.62;-2.62	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.118882	0.56097	D	0.000022	D	0.94255	0.8155	M	0.68317	2.08	0.41278	D	0.986899	D;D	0.89917	1.0;1.0	D;D	0.73708	0.967;0.981	D	0.94650	0.7838	10	0.87932	D	0	.	14.359	0.66757	0.0:0.2636:0.7364:0.0	.	59;140	B4DJC5;Q6UX07	.;DHR13_HUMAN	W	140;90;59	ENSP00000368173:R140W;ENSP00000378361:R90W;ENSP00000412826:R59W	ENSP00000368173:R140W	R	-	1	2	DHRS13	24252398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.532000	0.67154	2.625000	0.88918	0.561000	0.74099	CGG		0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		88	434	0	0	0	1	0	88	434				
ATP6V0A1	535	broad.mit.edu	37	17	40620067	40620067	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40620067T>G	ENST00000343619.4	+	4	359	c.236T>G	c.(235-237)aTt>aGt	p.I79S	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000544137.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	79					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.I79N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AACATTCCGATTATGGACACC	0.393																																						ENST00000343619.4																			1	Substitution - Missense(1)	p.I79N(1)	endometrium(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(235-237)aTt>aGt		ATPase, H+ transporting, lysosomal V0 subunit a1							96.0	94.0	95.0					17																	40620067		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40620067T>G	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.236T>G	17.37:g.40620067T>G	ENSP00000342951:p.Ile79Ser					ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S	p.I79S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	4	359	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	79					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.236T>G	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671138	0.67814	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.99	5.99	0.97316	.	0.153144	0.56097	D	0.000022	D	0.88433	0.6435	M	0.73962	2.25	0.80722	D	1	B;P;P;P;P;P	0.45240	0.343;0.494;0.621;0.629;0.854;0.567	P;B;P;B;P;P	0.47299	0.474;0.371;0.493;0.243;0.543;0.462	D	0.89748	0.3938	10	0.87932	D	0	-25.0355	16.4943	0.84223	0.0:0.0:0.0:1.0	.	79;79;79;79;79;79	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	S	79	ENSP00000342951:I79S;ENSP00000444676:I79S;ENSP00000377415:I79S;ENSP00000264649:I79S;ENSP00000443991:I79S	ENSP00000264649:I79S	I	+	2	0	ATP6V0A1	37873593	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	4.899000	0.63245	2.291000	0.77112	0.533000	0.62120	ATT		0.393	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		53	233	0	0	0	1	0	53	233				
GSG1L	146395	broad.mit.edu	37	16	27840187	27840187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27840187C>A	ENST00000447459.2	-	5	837	c.753G>T	c.(751-753)aaG>aaT	p.K251N	GSG1L_ENST00000380898.2_Missense_Mutation_p.K96N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N|GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	251					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGACCTTGCGCTTGTGCCGGA	0.592																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(286-288)aaG>aaT		GSG1-like							103.0	76.0	85.0					16																	27840187		2197	4300	6497	SO:0001583	missense	146395					integral to membrane		g.chr16:27840187C>A	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.753G>T	16.37:g.27840187C>A	ENSP00000394954:p.Lys251Asn					GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N|GSG1L_ENST00000447459.2_Missense_Mutation_p.K251N|GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N	p.K96N			Q6UXU4	GSG1L_HUMAN			5	837	-			251					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.288G>T	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440517	0.63067	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.35421	1.31;1.31	5.24	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.40543	1.245	0.51233	D	0.999918	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.973;0.982;0.991	T	0.20107	-1.0285	10	0.42905	T	0.14	3.1709	6.2651	0.20922	0.0:0.5726:0.14:0.2874	.	200;96;251	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	251;200;96;96	ENSP00000394954:K251N;ENSP00000379074:K200N	ENSP00000370282:K96N	K	-	3	2	GSG1L	27747688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.093000	0.41710	0.539000	0.28788	0.650000	0.86243	AAG		0.592	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		53	253	1	0	6.4308e-24	1	7.32928e-24	53	253				
ZNF585A	199704	broad.mit.edu	37	19	37644430	37644430	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37644430T>C	ENST00000356958.4	-	5	629	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCCCCAGGATACATTTTTTG	0.383																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(370-372)tAt>tGt		zinc finger protein 585A							160.0	163.0	162.0					19																	37644430		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644430T>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.371A>G	19.37:g.37644430T>C	ENSP00000349440:p.Tyr124Cys					ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron	p.Y124C			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	629	-			124					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.371A>G		.	.	.	.	.	.	.	.	.	.	T	13.61	2.288427	0.40494	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.28255	3.29;3.29;3.29;1.62	3.53	3.53	0.40419	.	0.468661	0.15806	U	0.243722	T	0.21022	0.0506	N	0.19112	0.55	0.30995	N	0.721005	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.87932	D	0	.	11.444	0.50112	0.0:0.0:0.0:1.0	.	124	Q6P3V2	Z585A_HUMAN	C	124;69;69;69	ENSP00000349440:Y124C;ENSP00000292841:Y69C;ENSP00000375998:Y69C;ENSP00000347724:Y69C	ENSP00000292841:Y69C	Y	-	2	0	ZNF585A	42336270	0.070000	0.21116	0.014000	0.15608	0.001000	0.01503	2.843000	0.48238	1.578000	0.49821	0.533000	0.62120	TAT		0.383	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		202	815	0	0	0	1	0	202	815				
SCN4A	6329	broad.mit.edu	37	17	62026114	62026114	+	Missense_Mutation	SNP	G	G	A	rs199713025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62026114G>A	ENST00000435607.1	-	16	3077	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1001					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGGCCAGCGCTGCACGCAG	0.642																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3001-3003)Cgc>Tgc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)	G	CYS/ARG	7,4341		0,7,2167	30.0	33.0	32.0		3001	3.1	1.0	17		32	0,8544		0,0,4272	yes	missense	SCN4A	NM_000334.4	180	0,7,6439	AA,AG,GG		0.0,0.161,0.0543	probably-damaging	1001/1837	62026114	7,12885	2174	4272	6446	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62026114G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3001C>T	17.37:g.62026114G>A	ENSP00000396320:p.Arg1001Cys					SCN4A_ENST00000435607.1_Missense_Mutation_p.R1001C	p.R1001C			P35499	SCN4A_HUMAN			16	3077	-			1001					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3001C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561949	0.45590	0.00161	0.0	ENSG00000007314	ENST00000435607	D	0.86956	-2.19	4.16	3.09	0.35607	Sodium ion transport-associated (1);	0.112431	0.56097	D	0.000024	D	0.92133	0.7506	M	0.87617	2.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.65874	0.939	D	0.90801	0.4694	10	0.38643	T	0.18	.	9.4304	0.38606	0.0:0.0:0.6236:0.3764	.	1001	P35499	SCN4A_HUMAN	C	1001	ENSP00000396320:R1001C	ENSP00000396320:R1001C	R	-	1	0	SCN4A	59379846	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.528000	0.45624	2.324000	0.78689	0.313000	0.20887	CGC		0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		23	108	0	0	0	1	0	23	108				
SP100	6672	broad.mit.edu	37	2	231379934	231379934	+	Missense_Mutation	SNP	C	C	T	rs566762218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231379934C>T	ENST00000264052.5	+	25	2574	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	740					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGCAAAGGCGGACAAGGCC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20354	0.0		0.001	False		,,,				2504	0.0					ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2218-2220)gCg>gTg		SP100 nuclear antigen							49.0	53.0	52.0					2																	231379934		2203	4298	6501	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231379934C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2219C>T	2.37:g.231379934C>T	ENSP00000264052:p.Ala740Val					SP100_ENST00000340126.4_Intron	p.A740V	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2574	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	740					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2219C>T	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466350	0.26335	.	.	ENSG00000067066	ENST00000264052	T	0.15139	2.45	0.158	0.158	0.14942	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.14270	0.0345	L	0.54908	1.71	0.80722	D	1	B	0.23377	0.084	B	0.13407	0.009	T	0.06899	-1.0801	9	0.59425	D	0.04	.	6.0348	0.19702	0.0:0.9995:0.0:5.0E-4	.	740	P23497	SP100_HUMAN	V	740	ENSP00000264052:A740V	ENSP00000264052:A740V	A	+	2	0	SP100	231088178	0.770000	0.28543	0.015000	0.15790	0.015000	0.08874	0.844000	0.27654	0.202000	0.20498	0.205000	0.17691	GCG		0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		81	431	0	0	0	1	0	81	431				
PYGL	5836	broad.mit.edu	37	14	51378884	51378884	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378884C>T	ENST00000216392.7	-	14	2090	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_ENST00000532462.1_Silent_p.T586T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.T552T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	586					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGTTGTACATCGTGATCACAT	0.512																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1756-1758)acG>acA		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						171.0	151.0	158.0					14																	51378884		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51378884C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1758G>A	14.37:g.51378884C>T						PYGL_ENST00000532462.1_Silent_p.T586T|PYGL_ENST00000544180.2_Silent_p.T552T	p.T586T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			14	2090	-	all_epithelial(31;0.00825)|Breast(41;0.148)		586					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1758G>A	CCDS32080.1																																																																																				0.512	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		138	561	0	0	0	1	0	138	561				
BPIFC	254240	broad.mit.edu	37	22	32843277	32843277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32843277G>T	ENST00000397452.1	-	4	406	c.296C>A	c.(295-297)cCt>cAt	p.P99H	BPIFC_ENST00000300399.3_Missense_Mutation_p.P99H|BPIFC_ENST00000534972.1_De_novo_Start_OutOfFrame|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	99						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TCCCACTCCAGGCACAAAAGC	0.448																																						ENST00000534972.1																			0													BPI fold containing family C							121.0	107.0	112.0					22																	32843277		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32843277G>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.296C>A	22.37:g.32843277G>T	ENSP00000380594:p.Pro99His					BPIFC_ENST00000300399.3_Missense_Mutation_p.P99H|BPIFC_ENST00000397452.1_Missense_Mutation_p.P99H|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame				Q8NFQ6	BPIL2_HUMAN			0	421	-								A2RRF1	Translation_Start_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878428	0.51801	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.07114	3.22;3.22	5.87	5.87	0.94306	.	0.053128	0.85682	D	0.000000	T	0.32941	0.0846	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01516	-1.1335	10	0.87932	D	0	-19.4548	16.0731	0.80948	0.0:0.0:1.0:0.0	.	99	Q8NFQ6	BPIFC_HUMAN	H	99	ENSP00000380594:P99H;ENSP00000300399:P99H	ENSP00000300399:P99H	P	-	2	0	BPIFC	31173277	1.000000	0.71417	0.994000	0.49952	0.149000	0.21700	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	CCT		0.448	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		77	312	1	0	3.86735e-44	1	4.73008e-44	77	312				
ENPP7	339221	broad.mit.edu	37	17	77709051	77709051	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709051C>T	ENST00000328313.5	+	3	830	c.609C>T	c.(607-609)caC>caT	p.H203H		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCACGGGCCACAGGTACGGCC	0.657																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(607-609)caC>caT		ectonucleotide pyrophosphatase/phosphodiesterase 7							50.0	46.0	48.0					17																	77709051		2203	4300	6503	SO:0001819	synonymous_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709051C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.609C>T	17.37:g.77709051C>T							p.H203H	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	830	+			203						Silent	SNP	ENST00000328313.5	37	c.609C>T	CCDS11763.1																																																																																				0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		50	252	0	0	0	1	0	50	252				
SYVN1	84447	broad.mit.edu	37	11	64895881	64895881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64895881C>T	ENST00000377190.3	-	16	1921	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	SYVN1_ENST00000307289.6_Silent_p.Q557Q|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Silent_p.Q608Q|SYVN1_ENST00000294256.8_Silent_p.Q608Q	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	609					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCCAGCTTCTGCAGGCGGC	0.637																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1822-1824)caG>caA		synovial apoptosis inhibitor 1, synoviolin							23.0	29.0	27.0					11																	64895881		2201	4297	6498	SO:0001819	synonymous_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64895881C>T	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1827G>A	11.37:g.64895881C>T						SYVN1_ENST00000294256.8_Silent_p.Q608Q|SYVN1_ENST00000307289.6_Silent_p.Q557Q|SYVN1_ENST00000377190.3_Silent_p.Q609Q	p.Q608Q			Q86TM6	SYVN1_HUMAN			16	2016	-			609					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	c.1824G>A	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	c	3.512	-0.099676	0.07010	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	-4.48	0.03515	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33189	-0.9878	5	0.07990	T	0.79	.	12.7242	0.57162	0.0:0.4464:0.0:0.5536	.	.	.	.	K	609	.	ENSP00000412962:R609K	R	-	2	0	SYVN1	64652457	0.000000	0.05858	0.409000	0.26459	0.890000	0.51754	-2.457000	0.01001	-1.770000	0.01295	-1.194000	0.01681	AGA		0.637	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		28	117	0	0	0	1	0	28	117				
FAT4	79633	broad.mit.edu	37	4	126242264	126242264	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242264G>T	ENST00000394329.3	+	1	4711	c.4698G>T	c.(4696-4698)gaG>gaT	p.E1566D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1566	Cadherin 15. {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						TAGAGTATGAGATCATCAATG	0.473																																						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.(4696-4698)gaG>gaT		FAT atypical cadherin 4							134.0	130.0	131.0					4																	126242264		2019	4201	6220	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242264G>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.4698G>T	4.37:g.126242264G>T	ENSP00000377862:p.Glu1566Asp						p.E1566D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4711	+			1566			Cadherin 15.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4698G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148265	0.57151	.	.	ENSG00000196159	ENST00000394329	T	0.52526	0.66	4.35	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.000000	0.34411	U	0.003993	T	0.56046	0.1959	L	0.45422	1.42	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.47787	-0.9090	10	0.23891	T	0.37	.	10.7952	0.46455	0.1381:0.0:0.8619:0.0	.	1566	Q6V0I7	FAT4_HUMAN	D	1566	ENSP00000377862:E1566D	ENSP00000377862:E1566D	E	+	3	2	FAT4	126461714	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.768000	0.26590	2.420000	0.82092	0.655000	0.94253	GAG		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		151	666	1	0	1.19641e-65	1	1.51299e-65	151	666				
SCGB1D4	404552	broad.mit.edu	37	11	62064997	62064997	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62064997C>T	ENST00000358585.1	-	2	242	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	63						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						CGGTGCAGTGCTTCACTTCCA	0.428																																						ENST00000358585.1																			0				lung(1)|prostate(1)	2						c.(187-189)aaG>aaA		secretoglobin, family 1D, member 4							219.0	232.0	227.0					11																	62064997		2202	4299	6501	SO:0001819	synonymous_variant	404552					extracellular region	binding	g.chr11:62064997C>T	AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"""Secretoglobins"""	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.189G>A	11.37:g.62064997C>T							p.K63K	NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN			2	242	-			63					A1L4Q8	Silent	SNP	ENST00000358585.1	37	c.189G>A	CCDS31583.1																																																																																				0.428	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	NM_206998		277	1151	0	0	0	1	0	277	1151				
NXF4	55999	broad.mit.edu	37	X	101822134	101822134	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101822134T>C	ENST00000360035.2	+	0	1887					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						TCTCTCCAGATCACTCATTAC	0.463																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														0							g.chrX:101822134T>C	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101822134T>C								NR_002216.1						0	1887	+									RNA	SNP	ENST00000360035.2	37																																																																																						0.463	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			22	48	0	0	0	1	0	22	48				
USP34	9736	broad.mit.edu	37	2	61575613	61575613	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61575613T>G	ENST00000398571.2	-	15	1753	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	559					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTGCATGGATTCCTGTATTT	0.378																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(1675-1677)gaA>gaC		ubiquitin specific peptidase 34							99.0	94.0	95.0					2																	61575613		1911	4135	6046	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575613T>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1677A>C	2.37:g.61575613T>G	ENSP00000381577:p.Glu559Asp						p.E559D	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	1753	-			559					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1677A>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293336	0.80914	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03889	3.77	6.07	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	L	0.36672	1.1	0.47094	D	0.99931	B	0.32918	0.39	B	0.32211	0.142	T	0.51849	-0.8653	10	0.22109	T	0.4	.	10.0399	0.42151	0.0:0.1917:0.0:0.8083	.	559	Q70CQ2	UBP34_HUMAN	D	407;407;559	ENSP00000381577:E559D	ENSP00000263989:E407D	E	-	3	2	USP34	61429117	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.796000	0.26986	0.548000	0.28955	0.528000	0.53228	GAA		0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			114	511	0	0	0	1	0	114	511				
ACTR10	55860	broad.mit.edu	37	14	58697142	58697142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58697142G>A	ENST00000254286.4	+	11	894	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	272					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATTCTTTTTGAACAAGATAA	0.318																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(814-816)Gaa>Aaa		actin-related protein 10 homolog (S. cerevisiae)							84.0	91.0	89.0					14																	58697142		2203	4294	6497	SO:0001583	missense	55860					cytoplasm		g.chr14:58697142G>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.814G>A	14.37:g.58697142G>A	ENSP00000254286:p.Glu272Lys						p.E272K	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			11	894	+			272					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.814G>A	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730951	0.89390	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94330	-3.4	5.74	5.74	0.90152	.	0.088942	0.85682	D	0.000000	D	0.91885	0.7431	L	0.39692	1.235	0.80722	D	1	B;B	0.27910	0.193;0.193	B;B	0.34536	0.185;0.129	D	0.89792	0.3969	10	0.87932	D	0	-8.36	18.9694	0.92709	0.0:0.0:1.0:0.0	.	272;272	Q53H79;Q9NZ32	.;ARP10_HUMAN	K	272	ENSP00000254286:E272K	ENSP00000254286:E272K	E	+	1	0	ACTR10	57766895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.176000	0.94839	2.731000	0.93534	0.549000	0.68633	GAA		0.318	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			72	354	0	0	0	1	0	72	354				
NAALAD2	10003	broad.mit.edu	37	11	89882186	89882186	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89882186T>G	ENST00000534061.1	+	4	624	c.394T>G	c.(394-396)Tca>Gca	p.S132A	NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	132					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCAAAACATCATACCTTGA	0.323																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(394-396)Tca>Gca		N-acetylated alpha-linked acidic dipeptidase 2							90.0	92.0	92.0					11																	89882186		2199	4296	6495	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89882186T>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.394T>G	11.37:g.89882186T>G	ENSP00000432481:p.Ser132Ala					NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A	p.S132A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			4	624	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	132					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.394T>G	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	T	7.130	0.579740	0.13686	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.37	2.96	0.34315	.	0.199984	0.34906	N	0.003590	T	0.33760	0.0874	L	0.48877	1.53	0.53688	D	0.999974	B;B;B;B;B	0.11235	0.001;0.001;0.0;0.003;0.004	B;B;B;B;B	0.17098	0.004;0.011;0.001;0.014;0.017	T	0.07693	-1.0759	9	.	.	.	-7.6689	10.4162	0.44322	0.2791:0.0:0.0:0.7209	.	132;132;132;132;132	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	A	132;132;132;132;78	ENSP00000432481:S132A;ENSP00000320083:S132A;ENSP00000435249:S132A;ENSP00000365111:S132A;ENSP00000435670:S78A	.	S	+	1	0	NAALAD2	89521834	0.997000	0.39634	0.260000	0.24451	0.007000	0.05969	3.312000	0.51927	0.305000	0.22832	0.451000	0.29950	TCA		0.323	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		121	457	0	0	0	1	0	121	457				
ZC3H7B	23264	broad.mit.edu	37	22	41742154	41742154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41742154G>T	ENST00000352645.4	+	14	1864	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	552					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGCGCGGCAGCCTCACCATC	0.647																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1606-1608)aGc>aTc		zinc finger CCCH-type containing 7B							100.0	80.0	87.0					22																	41742154		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41742154G>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1607G>T	22.37:g.41742154G>T	ENSP00000345793:p.Ser536Ile					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	p.S536I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			14	1864	+			552					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1607G>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156390	0.57259	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.22539	1.95;1.95	5.36	4.28	0.50868	.	0.141156	0.64402	D	0.000007	T	0.20088	0.0483	L	0.46157	1.445	0.35808	D	0.823633	B	0.32731	0.382	B	0.35813	0.211	T	0.18461	-1.0336	10	0.56958	D	0.05	-32.0039	9.3375	0.38060	0.0788:0.145:0.7762:0.0	.	536	Q9UGR2-2	.	I	536	ENSP00000345793:S536I;ENSP00000263243:S536I	ENSP00000263243:S536I	S	+	2	0	ZC3H7B	40072100	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.625000	0.46452	2.523000	0.85059	0.555000	0.69702	AGC		0.647	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		91	456	1	0	6.07207e-39	1	7.33261e-39	91	456				
COL27A1	85301	broad.mit.edu	37	9	117052362	117052362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117052362G>A	ENST00000356083.3	+	46	4622	c.4231G>A	c.(4231-4233)Gca>Aca	p.A1411T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1411	Collagen-like 13.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAAGGCAAGGCAGGGGCCCC	0.647																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(4231-4233)Gca>Aca		collagen, type XXVII, alpha 1							39.0	46.0	44.0					9																	117052362		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117052362G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4231G>A	9.37:g.117052362G>A	ENSP00000348385:p.Ala1411Thr						p.A1411T	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			46	4622	+			1411			Collagen-like 13.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.4231G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698490	0.48307	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93488	-3.23	4.89	3.96	0.45880	.	.	.	.	.	D	0.82921	0.5142	N	0.08118	0	0.22571	N	0.998973	P	0.45044	0.849	B	0.39617	0.305	T	0.73206	-0.4056	9	0.13853	T	0.58	.	9.7579	0.40515	0.0:0.279:0.721:0.0	.	1411	Q8IZC6	CORA1_HUMAN	T	1411	ENSP00000348385:A1411T	ENSP00000348385:A1411T	A	+	1	0	COL27A1	116092183	0.971000	0.33674	0.993000	0.49108	0.922000	0.55478	0.880000	0.28159	2.249000	0.74217	0.491000	0.48974	GCA		0.647	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		79	301	0	0	0	1	0	79	301				
KDM8	79831	broad.mit.edu	37	16	27226239	27226239	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27226239A>G	ENST00000286096.4	+	4	881	c.708A>G	c.(706-708)ccA>ccG	p.P236P	KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.P274P|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	236					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										GAACTGTCCCAGTGGAAGTTG	0.478																																						ENST00000286096.4																			0											c.(706-708)ccA>ccG		lysine (K)-specific demethylase 8							189.0	152.0	165.0					16																	27226239		2197	4300	6497	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27226239A>G	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.708A>G	16.37:g.27226239A>G						KDM8_ENST00000567785.1_3'UTR|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.P274P	p.P236P	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN			4	881	+			236					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.708A>G	CCDS10627.1																																																																																				0.478	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		19	414	0	0	0	1	0	19	414				
NSUN5	55695	broad.mit.edu	37	7	72721672	72721672	+	Missense_Mutation	SNP	G	G	A	rs137916678	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72721672G>A	ENST00000252594.6	-	3	314	c.299C>T	c.(298-300)gCg>gTg	p.A100V	NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V|NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	100				A -> P (in Ref. 1; AAL16067). {ECO:0000305}.	rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTTGAGCCTCGCCTGGTGCCG	0.597													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		16072	0.0		0.0	False		,,,				2504	0.0					ENST00000252594.6																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(298-300)gCg>gTg		NOP2/Sun domain family, member 5		G	VAL/ALA,,VAL/ALA,VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	44.0	39.0	41.0		299,,299,299	4.2	1.0	7	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,missense,missense	NSUN5	NM_001168347.1,NM_001168348.1,NM_018044.3,NM_148956.2	64,,64,64	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	possibly-damaging,,possibly-damaging,possibly-damaging	100/471,,100/430,100/467	72721672	8,12998	2203	4300	6503	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72721672G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.299C>T	7.37:g.72721672G>A	ENSP00000252594:p.Ala100Val					NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V|NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V	p.A100V			Q96P11	NSUN5_HUMAN			3	314	-		Lung NSC(55;0.163)	100	A -> P (in Ref. 1; AAL16067).				B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.299C>T	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400031	0.83120	0.001589	1.16E-4	ENSG00000130305	ENST00000252594;ENST00000438747;ENST00000310326	T;T;T	0.15256	2.44;2.63;2.63	4.18	4.18	0.49190	.	0.055915	0.64402	D	0.000001	T	0.27629	0.0679	M	0.66939	2.045	0.49798	D	0.999825	P;P;P	0.52463	0.953;0.945;0.949	B;B;P	0.48400	0.372;0.269;0.576	T	0.05683	-1.0870	9	.	.	.	.	15.7336	0.77825	0.0:0.0:1.0:0.0	.	100;100;100	B4DP79;Q96P11;Q96P11-2	.;NSUN5_HUMAN;.	V	100	ENSP00000252594:A100V;ENSP00000388464:A100V;ENSP00000309126:A100V	.	A	-	2	0	NSUN5	72359608	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	8.882000	0.92420	2.165000	0.68154	0.485000	0.47835	GCG		0.597	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		35	111	0	0	0	1	0	35	111				
OTOF	9381	broad.mit.edu	37	2	26724644	26724644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26724644G>A	ENST00000272371.2	-	8	869	c.743C>T	c.(742-744)gCt>gTt	p.A248V	OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	248	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGCCCAGCACTTGGCTC	0.552																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(742-744)gCt>gTt		otoferlin							91.0	81.0	84.0					2																	26724644		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26724644G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.743C>T	2.37:g.26724644G>A	ENSP00000272371:p.Ala248Val					OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	p.A248V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			8	869	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		248			C2 1.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.743C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248471	0.80024	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80824	-1.42;-1.42	5.81	5.81	0.92471	C2 membrane targeting protein (1);	0.048531	0.85682	D	0.000000	T	0.78629	0.4313	L	0.47716	1.5	0.54753	D	0.999984	P	0.46395	0.877	B	0.43360	0.417	T	0.76421	-0.2965	10	0.30078	T	0.28	-14.7144	18.6464	0.91411	0.0:0.0:1.0:0.0	.	248	Q9HC10	OTOF_HUMAN	V	248	ENSP00000272371:A248V;ENSP00000385255:A248V	ENSP00000272371:A248V	A	-	2	0	OTOF	26578148	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	9.471000	0.97696	2.746000	0.94184	0.655000	0.94253	GCT		0.552	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			46	266	0	0	0	1	0	46	266				
KLHL9	55958	broad.mit.edu	37	9	21334090	21334090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21334090C>T	ENST00000359039.4	-	1	1289	c.769G>A	c.(769-771)Gta>Ata	p.V257I	KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	257					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATGAAATCTACTGTCTGCACG	0.413																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(769-771)Gta>Ata		kelch-like family member 9							135.0	125.0	128.0					9																	21334090		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334090C>T	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.769G>A	9.37:g.21334090C>T	ENSP00000351933:p.Val257Ile					KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I	p.V257I			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1289	-			257					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.769G>A	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476530	0.63737	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70986	-0.5;-0.53	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.83223	2.63	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.83825	0.0249	10	0.39692	T	0.17	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	257	Q9P2J3	KLHL9_HUMAN	I	257;189	ENSP00000351933:V257I;ENSP00000437733:V189I	ENSP00000351933:V257I	V	-	1	0	KLHL9	21324090	1.000000	0.71417	0.918000	0.36340	0.907000	0.53573	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	GTA		0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		94	392	0	0	0	1	0	94	392				
BST2	684	broad.mit.edu	37	19	17516300	17516300	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17516300G>A	ENST00000252593.6	-	1	157	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	CTD-2521M24.9_ENST00000500836.2_lincRNA|BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	29					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						AGGAGCACCAGAATTCCTATC	0.542																																						ENST00000252593.6																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						c.(85-87)Ctg>Ttg		bone marrow stromal cell antigen 2							147.0	122.0	130.0					19																	17516300		2203	4300	6503	SO:0001819	synonymous_variant	684				B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity	g.chr19:17516300G>A		CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"""CD molecules"""	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.85C>T	19.37:g.17516300G>A						BST2_ENST00000527220.1_5'UTR	p.L29L	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN			1	157	-			29					A8K4Y4|Q53G07	Silent	SNP	ENST00000252593.6	37	c.85C>T	CCDS12358.1																																																																																				0.542	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335		80	384	0	0	0	1	0	80	384				
CDC14A	8556	broad.mit.edu	37	1	100964692	100964692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100964692C>T	ENST00000336454.3	+	15	1984	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Silent_p.N485N|CDC14A_ENST00000361544.6_Silent_p.N543N|CDC14A_ENST00000544534.1_Silent_p.N543N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	543					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GCAACAGCAACGGGGGCAACC	0.562																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1627-1629)aaC>aaT		cell division cycle 14A							84.0	88.0	87.0					1																	100964692		2203	4300	6503	SO:0001819	synonymous_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100964692C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1629C>T	1.37:g.100964692C>T						CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Silent_p.N485N|CDC14A_ENST00000544534.1_Silent_p.N543N|CDC14A_ENST00000361544.6_Silent_p.N543N	p.N543N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	15	1984	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	543					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	c.1629C>T	CCDS769.1																																																																																				0.562	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		39	295	0	0	0	1	0	39	295				
TCHHL1	126637	broad.mit.edu	37	1	152058970	152058970	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152058970A>T	ENST00000368806.1	-	3	1252	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	396							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGGCCTCAGGACCTCTCCTCT	0.468																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1186-1188)ggT>ggA		trichohyalin-like 1							148.0	143.0	145.0					1																	152058970		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152058970A>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1188T>A	1.37:g.152058970A>T							p.G396G	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1252	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		396					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.1188T>A	CCDS30857.1																																																																																				0.468	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		183	862	0	0	0	1	0	183	862				
LPIN2	9663	broad.mit.edu	37	18	2920375	2920375	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2920375A>G	ENST00000261596.4	-	20	2845	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	869					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAAAAGCGGAATTCTGCTCCT	0.557																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(2605-2607)aaT>aaC		lipin 2							57.0	51.0	53.0					18																	2920375		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2920375A>G	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2607T>C	18.37:g.2920375A>G							p.N869N	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	20	2845	-			869					A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.2607T>C	CCDS11829.1																																																																																				0.557	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		15	235	0	0	0	1	0	15	235				
SHPK	23729	broad.mit.edu	37	17	3514153	3514153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3514153C>T	ENST00000225519.3	-	7	1240	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	380					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCCAGCTGGTCCGGCAGGTGC	0.602																																						ENST00000225519.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1138-1140)Gac>Aac		sedoheptulokinase							77.0	72.0	74.0					17																	3514153		2203	4300	6503	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3514153C>T	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1138G>A	17.37:g.3514153C>T	ENSP00000225519:p.Asp380Asn						p.D380N	NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1240	-			380					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.1138G>A	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104741	0.37145	.	.	ENSG00000197417	ENST00000225519	T	0.18657	2.2	5.2	5.2	0.72013	.	0.332700	0.35179	N	0.003389	T	0.22360	0.0539	L	0.55990	1.75	0.29187	N	0.876141	B	0.20671	0.047	B	0.20955	0.032	T	0.15694	-1.0428	10	0.11182	T	0.66	-25.8882	18.1093	0.89530	0.0:1.0:0.0:0.0	.	380	Q9UHJ6	SHPK_HUMAN	N	380	ENSP00000225519:D380N	ENSP00000225519:D380N	D	-	1	0	SHPK	3460902	0.942000	0.31987	0.971000	0.41717	0.805000	0.45488	1.863000	0.39459	2.606000	0.88127	0.563000	0.77884	GAC		0.602	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			95	458	0	0	0	1	0	95	458				
UNC5B	219699	broad.mit.edu	37	10	73051266	73051266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73051266G>A	ENST00000335350.6	+	10	1788	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	458					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACCCGTGTATGCCCTGCAGGA	0.617																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1372-1374)Gcc>Acc		unc-5 homolog B (C. elegans)							82.0	80.0	81.0					10																	73051266		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73051266G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1372G>A	10.37:g.73051266G>A	ENSP00000334329:p.Ala458Thr					UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	p.A458T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			10	1788	+			458					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1372G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	16.37	3.103661	0.56291	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.50548	0.8;0.74	4.47	4.47	0.54385	.	0.204155	0.42964	D	0.000622	T	0.59101	0.2169	M	0.72894	2.215	0.49483	D	0.999795	D;P	0.57257	0.979;0.908	P;B	0.54100	0.742;0.437	T	0.57745	-0.7758	10	0.18276	T	0.48	-29.7656	17.5121	0.87763	0.0:0.0:1.0:0.0	.	447;458	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	458;447	ENSP00000334329:A458T;ENSP00000362288:A447T	ENSP00000334329:A458T	A	+	1	0	UNC5B	72721272	1.000000	0.71417	0.928000	0.36995	0.452000	0.32318	4.325000	0.59234	2.190000	0.69967	0.651000	0.88453	GCC		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		98	370	0	0	0	1	0	98	370				
MAN2B2	23324	broad.mit.edu	37	4	6598925	6598925	+	Silent	SNP	C	C	T	rs372728164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6598925C>T	ENST00000285599.3	+	8	1179	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	MAN2B2_ENST00000504248.1_Silent_p.A330A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	381					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTTGTATGCCGGGGAGTCCA	0.672																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1141-1143)gcC>gcT		mannosidase, alpha, class 2B, member 2		C		1,4405	2.1+/-5.4	0,1,2202	81.0	90.0	87.0		1143	-9.5	0.1	4		87	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		381/1010	6598925	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6598925C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1143C>T	4.37:g.6598925C>T						MAN2B2_ENST00000504248.1_Silent_p.A330A	p.A381A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			8	1179	+			381					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.1143C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366790	0.24771	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	5.13	-9.49	0.00587	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41662	-0.9496	4	.	.	.	-25.9402	2.8042	0.05423	0.347:0.1042:0.0869:0.4619	.	.	.	.	L	380	.	.	P	+	2	0	MAN2B2	6649826	0.001000	0.12720	0.138000	0.22173	0.985000	0.73830	-2.311000	0.01128	-1.699000	0.01416	-0.275000	0.10095	CCG		0.672	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		159	813	0	0	0	1	0	159	813				
CLRN3	119467	broad.mit.edu	37	10	129690991	129690991	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129690991A>T	ENST00000368671.3	-	1	220	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	20						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAATGAAGGACCCAAGGCTG	0.383																																						ENST00000368671.3																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(58-60)Tcc>Acc		clarin 3							113.0	101.0	105.0					10																	129690991		2203	4300	6503	SO:0001583	missense	119467					integral to membrane		g.chr10:129690991A>T	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.58T>A	10.37:g.129690991A>T	ENSP00000357660:p.Ser20Thr						p.S20T	NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN			1	220	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	20					Q6MZX8	Missense_Mutation	SNP	ENST00000368671.3	37	c.58T>A	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780443	0.49891	.	.	ENSG00000180745	ENST00000368671	T	0.70749	-0.51	5.52	-5.86	0.02304	.	0.222808	0.38837	N	0.001554	T	0.65439	0.2691	M	0.62723	1.935	0.09310	N	0.999998	P	0.47484	0.896	P	0.45660	0.489	T	0.67189	-0.5733	10	0.44086	T	0.13	-14.6668	14.2358	0.65925	0.2353:0.699:0.0658:0.0	.	20	Q8NCR9	CLRN3_HUMAN	T	20	ENSP00000357660:S20T	ENSP00000357660:S20T	S	-	1	0	CLRN3	129580981	0.076000	0.21285	0.002000	0.10522	0.126000	0.20510	0.537000	0.23144	-0.709000	0.05008	0.533000	0.62120	TCC		0.383	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		86	384	0	0	0	1	0	86	384				
TPRA1	131601	broad.mit.edu	37	3	127295733	127295733	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127295733G>T	ENST00000355552.3	-	5	725	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	TPRA1_ENST00000465915.1_5'Flank|TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M|TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	117					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATCTCCCACAGGATCTGCACG	0.672																																						ENST00000355552.3																			0				endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						c.(349-351)Ctg>Atg		transmembrane protein, adipocyte asscociated 1							76.0	74.0	75.0					3																	127295733		2203	4300	6503	SO:0001583	missense	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127295733G>T	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.349C>A	3.37:g.127295733G>T	ENSP00000347748:p.Leu117Met					TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M|TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M	p.L117M	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN			5	725	-			117					A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	37	c.349C>A	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834041	0.71373	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643	.	.	.	4.51	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68678	-0.5345	9	0.72032	D	0.01	-11.9186	10.4878	0.44733	0.1617:0.0:0.8383:0.0	.	117;117	Q86W33-3;Q86W33	.;TPRA1_HUMAN	M	117	.	ENSP00000296210:L117M	L	-	1	2	TPRA1	128778423	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.232000	0.58645	1.006000	0.39211	0.591000	0.81541	CTG		0.672	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		55	220	1	0	9.57592e-29	1	1.11608e-28	55	220				
TM4SF19	116211	broad.mit.edu	37	3	196050725	196050725	+	Missense_Mutation	SNP	C	C	A	rs200450880	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196050725C>A	ENST00000273695.3	-	5	718	c.593G>T	c.(592-594)aGc>aTc	p.S198I	TM4SF19_ENST00000446879.1_Missense_Mutation_p.A197S|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.S198I|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	198						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCCCAGGAGGCTGTTGATGAC	0.547																																						ENST00000446879.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12						c.(589-591)Gcc>Tcc		transmembrane 4 L six family member 19							84.0	82.0	83.0					3																	196050725		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196050725C>A	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.593G>T	3.37:g.196050725C>A	ENSP00000273695:p.Ser198Ile					TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000273695.3_Missense_Mutation_p.S198I|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000452051.1_RNA	p.A197S			Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	5	714	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		0					B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.589G>T	CCDS3316.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.9|21.9|21.9	4.218752|4.218752|4.218752	0.79464|0.79464|0.79464	.|.|.	.|.|.	ENSG00000145107|ENSG00000145107|ENSG00000145107	ENST00000446879|ENST00000440822|ENST00000454715;ENST00000273695	T|.|T;T	0.26660|.|0.32753	1.72|.|1.44;1.44	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|.|.	.|.|0.148706	.|.|0.48767	.|.|D	.|.|0.000169	T|T|T	0.51618|0.51618|0.51618	0.1685|0.1685|0.1685	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.40063|0.40063|0.40063	D|D|D	0.975928|0.975928|0.975928	D|.|D;D	0.76494|.|0.69078	0.999|.|0.997;0.968	D|.|D;P	0.78314|.|0.68621	0.991|.|0.959;0.713	T|T|T	0.55166|0.55166|0.55166	-0.8183|-0.8183|-0.8183	9|5|10	0.15952|.|0.87932	T|.|D	0.53|.|0	-0.2669|-0.2669|-0.2669	14.4827|14.4827|14.4827	0.67594|0.67594|0.67594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	197|.|172;198	C9JCD5|.|E9PH22;Q96DZ7	.|.|.;T4S19_HUMAN	S|H|I	197|64|172;198	ENSP00000395280:A197S|.|ENSP00000387728:S172I;ENSP00000273695:S198I	ENSP00000395280:A197S|.|ENSP00000273695:S198I	A|Q|S	-|-|-	1|3|2	0|2|0	TM4SF19|TM4SF19|TM4SF19	197535122|197535122|197535122	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.943000|0.943000|0.943000	0.58893|0.58893|0.58893	2.774000|2.774000|2.774000	0.47694|0.47694|0.47694	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|CAG|AGC		0.547	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		19	346	1	0	1.33834e-09	1	1.40959e-09	19	346				
EML1	2009	broad.mit.edu	37	14	100367375	100367375	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100367375C>A	ENST00000262233.6	+	9	1146	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	EML1_ENST00000334192.4_Splice_Site_p.S355Y|EML1_ENST00000327921.9_Splice_Site_p.S324Y	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	336	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCTCAAAATCTGTAAGTATG	0.458																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e9+1		echinoderm microtubule associated protein like 1							218.0	191.0	200.0					14																	100367375		2203	4300	6503	SO:0001630	splice_region_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100367375C>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1008+1C>A	14.37:g.100367375C>A						EML1_ENST00000327921.9_Splice_Site_p.S324_splice|EML1_ENST00000334192.4_Splice_Site_p.S355_splice	p.S336_splice	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			9	1146	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	336					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Splice_Site	SNP	ENST00000262233.6	37	c.1008_splice	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927097	0.92389	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.30448	2.74;1.58;1.53;1.58	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.982;1.0;0.999	D;D;P;D;D	0.91635	0.998;0.994;0.839;0.999;0.996	T	0.61168	-0.7117	10	0.87932	D	0	-18.0254	19.0383	0.92987	0.0:1.0:0.0:0.0	.	324;324;336;355;355	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Y	323;324;336;355;355	ENSP00000451346:S323Y;ENSP00000327384:S324Y;ENSP00000262233:S336Y;ENSP00000334314:S355Y	ENSP00000262233:S336Y	S	+	2	0	EML1	99437128	1.000000	0.71417	0.973000	0.42090	0.908000	0.53690	7.355000	0.79434	2.491000	0.84063	0.591000	0.81541	TCT		0.458	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	Missense_Mutation	65	295	1	0	3.79397e-19	1	4.22686e-19	65	295				
FOLH1B	219595	broad.mit.edu	37	11	89385740	89385740	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89385740C>A	ENST00000532352.1	+	0	377							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCTTTCAGTGCTTTCTCTCCT	0.338																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89385740C>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89385740C>A										Q9HBA9	FOH1B_HUMAN			0	377	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.338	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		63	303	1	0	6.88731e-43	1	8.39682e-43	63	303				
ZSWIM4	65249	broad.mit.edu	37	19	13936465	13936465	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13936465A>G	ENST00000254323.2	+	11	2155	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	656							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CAAGACAGCCACCCCGGTCAG	0.667																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1966-1968)Acc>Gcc		zinc finger, SWIM-type containing 4							47.0	50.0	49.0					19																	13936465		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13936465A>G	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1966A>G	19.37:g.13936465A>G	ENSP00000254323:p.Thr656Ala					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	p.T656A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		11	2155	+			656						Missense_Mutation	SNP	ENST00000254323.2	37	c.1966A>G	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670200	0.47677	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.48522	0.81;0.81	4.23	3.05	0.35203	.	0.000000	0.52532	D	0.000074	T	0.47469	0.1447	M	0.71206	2.165	0.39259	D	0.964173	B;B	0.30563	0.015;0.285	B;B	0.36186	0.016;0.219	T	0.48151	-0.9060	10	0.56958	D	0.05	-21.304	7.6829	0.28524	0.8831:0.0:0.1169:0.0	.	490;656	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	656;490	ENSP00000254323:T656A;ENSP00000405278:T490A	ENSP00000254323:T656A	T	+	1	0	ZSWIM4	13797465	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.719000	0.68462	0.520000	0.28426	0.482000	0.46254	ACC		0.667	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		92	359	0	0	0	1	0	92	359				
PTPRO	5800	broad.mit.edu	37	12	15654981	15654981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654981C>T	ENST00000281171.4	+	5	1419	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	PTPRO_ENST00000348962.2_Silent_p.I363I|PTPRO_ENST00000543886.1_Silent_p.I363I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	363	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTCCATATCCATATTGAAC	0.388																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1087-1089)atC>atT		protein tyrosine phosphatase, receptor type, O							69.0	69.0	69.0					12																	15654981		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654981C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1089C>T	12.37:g.15654981C>T						PTPRO_ENST00000348962.2_Silent_p.I363I|PTPRO_ENST00000543886.1_Silent_p.I363I	p.I363I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			5	1419	+		Hepatocellular(102;0.244)	363			Fibronectin type-III 4.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1089C>T	CCDS8675.1																																																																																				0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			68	291	0	0	0	1	0	68	291				
GRIN2C	2905	broad.mit.edu	37	17	72843650	72843650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843650C>T	ENST00000293190.5	-	9	1944	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	600					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGGACTTGCCGATAGTGAAA	0.652																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1798-1800)Ggc>Agc		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						24.0	26.0	25.0					17																	72843650		2203	4297	6500	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843650C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1798G>A	17.37:g.72843650C>T	ENSP00000293190:p.Gly600Ser					GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	p.G600S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			9	1944	-	all_lung(278;0.172)|Lung NSC(278;0.207)		600					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1798G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605203	0.46423	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.49720	0.77	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	N	0.17674	0.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60929	-0.7165	10	0.56958	D	0.05	.	16.89	0.86084	0.0:1.0:0.0:0.0	.	634;600	Q8IW23;Q14957	.;NMDE3_HUMAN	S	600;634	ENSP00000293190:G600S	ENSP00000293190:G600S	G	-	1	0	GRIN2C	70355245	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	7.599000	0.82757	2.357000	0.79964	0.561000	0.74099	GGC		0.652	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			34	192	0	0	0	1	0	34	192				
C3orf58	205428	broad.mit.edu	37	3	143708593	143708593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143708593G>A	ENST00000315691.3	+	3	1738	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Silent_p.E192E|C3orf58_ENST00000441925.2_Silent_p.E163E	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	401					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTGGATGAGTGTGCCAACC	0.507																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1201-1203)gaG>gaA		chromosome 3 open reading frame 58							85.0	87.0	86.0					3																	143708593		2203	4300	6503	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143708593G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1203G>A	3.37:g.143708593G>A						C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000495414.1_Silent_p.E192E	p.E401E	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1738	+			401					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.1203G>A	CCDS3130.1																																																																																				0.507	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		64	294	0	0	0	1	0	64	294				
BAGE2	85319	broad.mit.edu	37	21	11039050	11039050	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11039050C>A	ENST00000470054.1	-	0	1153							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCAGAGTCCATCAATCCAG	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039050C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039050C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1153	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		70	2134	1	0	1.77063e-15	1	1.9355e-15	70	2134				
PPARA	5465	broad.mit.edu	37	22	46614253	46614253	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46614253T>C	ENST00000396000.2	+	5	728	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H|PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	155					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|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)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CAAATGCCAGTATTGTCGATT	0.498																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(463-465)Tat>Cat		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						221.0	193.0	203.0					22																	46614253		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46614253T>C	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.463T>C	22.37:g.46614253T>C	ENSP00000379322:p.Tyr155His					PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H|PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H|PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H	p.Y155H			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	5	728	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	155					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.463T>C	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369900	0.82573	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	5.67	4.65	0.58169	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.116886	0.64402	D	0.000011	D	0.97173	0.9076	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.66056	D	0.02	.	10.7817	0.46382	0.0:0.0738:0.0:0.9262	.	155;155	F1D8S4;Q07869	.;PPARA_HUMAN	H	155	ENSP00000379322:Y155H;ENSP00000262735:Y155H;ENSP00000385523:Y155H;ENSP00000385246:Y155H;ENSP00000408149:Y155H	ENSP00000262735:Y155H	Y	+	1	0	PPARA	44992917	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.119000	0.71590	0.981000	0.38548	0.482000	0.46254	TAT		0.498	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		130	564	0	0	0	1	0	130	564				
SIPA1	6494	broad.mit.edu	37	11	65416876	65416876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416876G>T	ENST00000394224.3	+	10	2746	c.2450G>T	c.(2449-2451)aGt>aTt	p.S817I	SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Missense_Mutation_p.S715I|SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	817					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GATGGTGGCAGTCCTCCAGGG	0.652																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2449-2451)aGt>aTt		signal-induced proliferation-associated 1							39.0	33.0	35.0					11																	65416876		2192	4291	6483	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65416876G>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2450G>T	11.37:g.65416876G>T	ENSP00000377771:p.Ser817Ile					SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I|SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I|SIPA1_ENST00000527525.1_Missense_Mutation_p.S715I	p.S817I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			10	2746	+			817					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2450G>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739776	0.15642	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	4.77	1.55	0.23275	.	1.699950	0.04268	U	0.341457	T	0.67933	0.2946	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.55431	-0.8142	10	0.33141	T	0.24	0.2005	7.1605	0.25661	0.0:0.1686:0.4841:0.3473	.	715;817	F6RY50;Q96FS4	.;SIPA1_HUMAN	I	817;715;817;715	ENSP00000436269:S817I;ENSP00000433686:S715I;ENSP00000377771:S817I;ENSP00000377774:S715I	ENSP00000377771:S817I	S	+	2	0	SIPA1	65173452	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	0.667000	0.25112	0.517000	0.28361	0.462000	0.41574	AGT		0.652	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		10	48	1	0	0.00829132	1	0.00834067	10	48				
C17orf80	55028	broad.mit.edu	37	17	71232128	71232128	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232128T>C	ENST00000535032.2	+	2	620	c.507T>C	c.(505-507)gcT>gcC	p.A169A	C17orf80_ENST00000255557.4_Silent_p.A169A|C17orf80_ENST00000359042.2_Silent_p.A169A|C17orf80_ENST00000577615.1_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Silent_p.A169A|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.A169A			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	169						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTCAGAAGCTGGAGCGTCTT	0.403																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(505-507)gcT>gcC		chromosome 17 open reading frame 80							80.0	83.0	82.0					17																	71232128		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71232128T>C	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.507T>C	17.37:g.71232128T>C						C17orf80_ENST00000535032.2_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.A169A|C17orf80_ENST00000577615.1_Silent_p.A169A|C17orf80_ENST00000268942.8_Silent_p.A169A|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Silent_p.A169A	p.A169A	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	701	+			169					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.507T>C	CCDS11694.1																																																																																				0.403	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		102	439	0	0	0	1	0	102	439				
UBQLN3	50613	broad.mit.edu	37	11	5530451	5530451	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530451C>A	ENST00000311659.4	-	2	485	c.338G>T	c.(337-339)aGt>aTt	p.S113I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	113										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATCCAGGACTTGGGCCCTG	0.617																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(337-339)aGt>aTt		ubiquilin 3							70.0	65.0	67.0					11																	5530451		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530451C>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.338G>T	11.37:g.5530451C>A	ENSP00000347997:p.Ser113Ile					HBG2_ENST00000380259.2_Intron	p.S113I	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	485	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	113					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.338G>T	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630625	0.46944	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54675	1.09;0.56	5.45	3.45	0.39498	.	0.408439	0.20954	N	0.082692	T	0.50956	0.1646	M	0.73962	2.25	0.09310	N	1	B	0.21753	0.06	B	0.26864	0.074	T	0.52041	-0.8628	10	0.62326	D	0.03	.	7.4533	0.27250	0.0:0.7333:0.1697:0.097	.	113	Q9H347	UBQL3_HUMAN	I	113	ENSP00000347997:S113I;ENSP00000412561:S113I	ENSP00000347997:S113I	S	-	2	0	UBQLN3	5487027	0.074000	0.21230	0.798000	0.32154	0.956000	0.61745	0.516000	0.22817	1.393000	0.46605	0.585000	0.79938	AGT		0.617	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		34	188	1	0	3.11337e-16	1	3.41587e-16	34	188				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	95	0	0	0	1	0	5	95				
CEP97	79598	broad.mit.edu	37	3	101481366	101481366	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101481366T>A	ENST00000341893.3	+	10	2607	c.1855T>A	c.(1855-1857)Ttt>Att	p.F619I	CEP97_ENST00000327230.4_Missense_Mutation_p.F619I|CEP97_ENST00000494050.1_Missense_Mutation_p.F560I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	619	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.F619I(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATTAAAAAATTTGTACAAGA	0.333																																						ENST00000341893.3																			1	Substitution - Missense(1)	p.F619I(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1855-1857)Ttt>Att		centrosomal protein 97kDa							75.0	79.0	77.0					3																	101481366		2203	4297	6500	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101481366T>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1855T>A	3.37:g.101481366T>A	ENSP00000342510:p.Phe619Ile					CEP97_ENST00000494050.1_Missense_Mutation_p.F560I|CEP97_ENST00000327230.4_Missense_Mutation_p.F619I	p.F619I			Q8IW35	CEP97_HUMAN			10	2607	+			619			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1855T>A	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935430	0.52866	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.49720	0.86;0.81;0.77	5.56	-2.14	0.07123	.	0.301981	0.37136	N	0.002226	T	0.31857	0.0810	L	0.57536	1.79	0.28846	N	0.896345	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.09596	-1.0667	10	0.34782	T	0.22	-0.8876	0.957	0.01387	0.367:0.1601:0.3182:0.1548	.	560;619	E9PG22;Q8IW35	.;CEP97_HUMAN	I	619;619;560	ENSP00000342510:F619I;ENSP00000325881:F619I;ENSP00000418185:F560I	ENSP00000325881:F619I	F	+	1	0	CEP97	102964056	0.983000	0.35010	0.643000	0.29450	0.989000	0.77384	0.369000	0.20416	-0.252000	0.09528	0.477000	0.44152	TTT		0.333	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		81	275	0	0	0	1	0	81	275				
ZIC4	84107	broad.mit.edu	37	3	147113984	147113984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147113984C>T	ENST00000383075.3	-	3	855	c.343G>A	c.(343-345)Gct>Act	p.A115T	ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	115						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGAAGAAAGCGCCAGGACCG	0.677																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(343-345)Gct>Act		Zic family member 4							30.0	36.0	34.0					3																	147113984		2199	4298	6497	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113984C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.343G>A	3.37:g.147113984C>T	ENSP00000372553:p.Ala115Thr					ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T|ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000491672.1_Intron	p.A115T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	855	-			115					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.343G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511829	0.96402	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.98	4.98	0.66077	.	0.000000	0.45867	D	0.000338	T	0.72203	0.3431	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.77744	-0.2473	10	0.87932	D	0	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	165;115	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	115;153;165;115;115;115	ENSP00000372553:A115T;ENSP00000397695:A153T;ENSP00000435509:A165T;ENSP00000417855:A115T;ENSP00000420775:A115T;ENSP00000420627:A115T	ENSP00000372553:A115T	A	-	1	0	ZIC4	148596674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GCT		0.677	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			66	233	0	0	0	1	0	66	233				
ASXL2	55252	broad.mit.edu	37	2	25973170	25973170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25973170G>A	ENST00000435504.4	-	12	1548	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F	ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F|ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	419					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTGATAAGAGAGGCCTCT	0.438																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(1255-1257)Ctt>Ttt		additional sex combs like 2 (Drosophila)							255.0	243.0	246.0					2																	25973170		1862	4111	5973	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25973170G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1255C>T	2.37:g.25973170G>A	ENSP00000391447:p.Leu419Phe					ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F|ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F	p.L419F			Q76L83	ASXL2_HUMAN			12	1548	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		419					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.1255C>T		.	.	.	.	.	.	.	.	.	.	G	10.66	1.412728	0.25465	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.79	3.93	0.45458	.	0.556047	0.19778	N	0.106299	T	0.09069	0.0224	N	0.08118	0	0.22305	N	0.999212	B;P	0.44877	0.379;0.845	B;B	0.41619	0.082;0.361	T	0.11717	-1.0576	10	0.45353	T	0.12	-0.6765	8.2328	0.31608	0.082:0.0:0.7593:0.1587	.	159;419	Q76L83-2;Q76L83	.;ASXL2_HUMAN	F	419;391;159;159	ENSP00000391447:L419F;ENSP00000337250:L391F;ENSP00000383920:L159F;ENSP00000272341:L159F	ENSP00000272341:L159F	L	-	1	0	ASXL2	25826674	0.394000	0.25246	0.851000	0.33527	0.251000	0.25915	2.011000	0.40922	1.381000	0.46364	0.591000	0.81541	CTT		0.438	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		236	1075	0	0	0	1	0	236	1075				
TAB1	10454	broad.mit.edu	37	22	39822803	39822803	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39822803C>T	ENST00000216160.6	+	9	1079	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	TAB1_ENST00000331454.3_Silent_p.S339S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	339	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCATCCACAGCGACACCTTCG	0.627																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(1015-1017)agC>agT		TGF-beta activated kinase 1/MAP3K7 binding protein 1							99.0	88.0	92.0					22																	39822803		2203	4300	6503	SO:0001819	synonymous_variant	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39822803C>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1017C>T	22.37:g.39822803C>T						TAB1_ENST00000331454.3_Silent_p.S339S	p.S339S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			9	1079	+			339			PP2C-like.		Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	c.1017C>T	CCDS13993.1																																																																																				0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		129	521	0	0	0	1	0	129	521				
MUC5B	727897	broad.mit.edu	37	11	1267146	1267146	+	Silent	SNP	G	G	A	rs563936822	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1267146G>A	ENST00000529681.1	+	31	9094	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3015P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642													G|||	4	0.000798722	0.0	0.0	5008	,	,		16823	0.0		0.003	False		,,,				2504	0.001					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9043-9045)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							139.0	168.0	158.0					11																	1267146		2150	4233	6383	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267146G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9036G>A	11.37:g.1267146G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3012P	p.P3015P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9103	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3012	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9045G>A	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		175	726	0	0	0	1	0	175	726				
KIAA0226L	80183	broad.mit.edu	37	13	46946460	46946460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46946460C>T	ENST00000429979.1	-	3	755	c.151G>A	c.(151-153)Gct>Act	p.A51T	KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000480935.1_Intron|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A51T|KIAA0226L_ENST00000409879.2_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	51										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATCCAGACAGCTTTGTGCCTC	0.532																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(151-153)Gct>Act		KIAA0226-like							91.0	78.0	82.0					13																	46946460		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946460C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.151G>A	13.37:g.46946460C>T	ENSP00000396935:p.Ala51Thr					KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A51T|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A51T|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000409879.2_Intron	p.A51T	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			3	755	-			51					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.151G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330409	0.60743	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T	0.68025	-0.14;0.26;0.15;0.26;0.15;-0.3	5.57	4.72	0.59763	.	0.000000	0.56097	D	0.000029	T	0.76615	0.4012	L	0.54323	1.7	0.28880	N	0.894451	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.976;0.989	T	0.72839	-0.4171	10	0.87932	D	0	-2.8447	11.757	0.51880	0.1762:0.8238:0.0:0.0	.	51;51;51	Q9H714-1;Q9H714;Q9H714-4	.;K226L_HUMAN;.	T	51	ENSP00000368057:A51T;ENSP00000396935:A51T;ENSP00000368074:A51T;ENSP00000374558:A51T;ENSP00000368064:A51T;ENSP00000414579:A51T	ENSP00000368057:A51T	A	-	1	0	KIAA0226L	45844461	0.943000	0.32029	0.388000	0.26195	0.220000	0.24768	3.399000	0.52586	1.338000	0.45544	0.655000	0.94253	GCT		0.532	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		36	168	0	0	0	1	0	36	168				
ENO1	2023	broad.mit.edu	37	1	8931976	8931976	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8931976T>A	ENST00000234590.4	-	3	274	c.155A>T	c.(154-156)aAt>aTt	p.N52I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	52					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTATCATTGTCCCGGAG	0.542											OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(154-156)aAt>aTt		enolase 1, (alpha)							180.0	158.0	166.0					1																	8931976		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8931976T>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.155A>T	1.37:g.8931976T>A	ENSP00000234590:p.Asn52Ile		OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653		p.N52I	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	3	274	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	52					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.155A>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704455	0.88924	.	.	ENSG00000074800	ENST00000234590	T	0.31247	1.5	5.87	5.87	0.94306	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.89785	3.06	0.39911	D	0.974039	B;B	0.31256	0.154;0.316	P;P	0.48795	0.59;0.486	T	0.65903	-0.6055	10	0.87932	D	0	-29.3646	15.0982	0.72253	0.0:0.0:0.0:1.0	.	19;52	A4UCS8;P06733	.;ENOA_HUMAN	I	52	ENSP00000234590:N52I	ENSP00000234590:N52I	N	-	2	0	ENO1	8854563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.174000	0.58256	2.253000	0.74438	0.533000	0.62120	AAT		0.542	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		64	477	0	0	0	1	0	64	477				
TAOK2	9344	broad.mit.edu	37	16	29996816	29996816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29996816C>A	ENST00000308893.4	+	14	2748	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I|TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	569					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGCACATCCTTGGGCAGCA	0.622																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1705-1707)Ctt>Att		TAO kinase 2							26.0	22.0	23.0					16																	29996816		2197	4296	6493	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996816C>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1705C>A	16.37:g.29996816C>A	ENSP00000310094:p.Leu569Ile					TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I|TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I	p.L569I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			14	2748	+			569					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1705C>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418553	0.62622	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.44083	0.93;0.93;0.93	5.27	2.91	0.33838	.	0.000000	0.64402	D	0.000002	T	0.52386	0.1731	L	0.50333	1.59	0.44547	D	0.997506	D;D;P;P;D	0.76494	0.996;0.999;0.713;0.764;0.983	P;D;P;B;P	0.68483	0.824;0.958;0.614;0.345;0.771	T	0.48801	-0.9003	9	.	.	.	.	9.9385	0.41565	0.0:0.7575:0.0:0.2425	.	760;396;569;569;569	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	I	569	ENSP00000310094:L569I;ENSP00000440336:L569I;ENSP00000279394:L569I	.	L	+	1	0	TAOK2	29904317	0.079000	0.21365	0.977000	0.42913	0.769000	0.43574	1.207000	0.32333	1.193000	0.43086	0.563000	0.77884	CTT		0.622	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		37	146	1	0	2.28855e-06	1	2.35735e-06	37	146				
ZNF77	58492	broad.mit.edu	37	19	2934085	2934085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2934085C>T	ENST00000314531.4	-	4	1132	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCTCTCCACTGTGCGTTCT	0.512																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1039-1041)aGt>aAt		zinc finger protein 77							88.0	78.0	81.0					19																	2934085		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934085C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1040G>A	19.37:g.2934085C>T	ENSP00000319053:p.Ser347Asn						p.S347N	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1132	-			347					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1040G>A	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220668	0.39201	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.19394	2.15	3.28	-0.668	0.11392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13713	0.0332	N	0.21097	0.63	0.22933	N	0.998543	B	0.32543	0.375	B	0.35770	0.21	T	0.30327	-0.9982	9	0.66056	D	0.02	.	6.3263	0.21244	0.0:0.3325:0.5374:0.1302	.	347	Q15935	ZNF77_HUMAN	N	141;347	ENSP00000319053:S347N	ENSP00000319053:S347N	S	-	2	0	ZNF77	2885085	0.992000	0.36948	0.010000	0.14722	0.062000	0.15995	2.149000	0.42244	0.124000	0.18369	0.491000	0.48974	AGT		0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		72	287	0	0	0	1	0	72	287				
FEM1A	55527	broad.mit.edu	37	19	4793649	4793649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793649G>A	ENST00000269856.3	+	1	1922	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	595					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAACTGCCCGGCCATCATGAA	0.607																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1783-1785)Gcc>Acc		fem-1 homolog a (C. elegans)							60.0	54.0	56.0					19																	4793649		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793649G>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1783G>A	19.37:g.4793649G>A	ENSP00000269856:p.Ala595Thr					AC005523.2_ENST00000601192.1_RNA	p.A595T	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1922	+		Hepatocellular(1079;0.137)	595					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1783G>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906090	0.33628	.	.	ENSG00000141965	ENST00000269856	T	0.70986	-0.53	4.92	3.85	0.44370	Ankyrin repeat-containing domain (4);	0.596241	0.16305	U	0.220273	T	0.56630	0.1998	N	0.20483	0.58	0.28969	N	0.889377	B	0.02656	0.0	B	0.10450	0.005	T	0.55573	-0.8120	10	0.49607	T	0.09	-9.6475	13.4172	0.60976	0.0:0.2677:0.7323:0.0	.	595	Q9BSK4	FEM1A_HUMAN	T	595	ENSP00000269856:A595T	ENSP00000269856:A595T	A	+	1	0	FEM1A	4744649	0.975000	0.34042	0.967000	0.41034	0.977000	0.68977	4.857000	0.62939	2.264000	0.75181	0.491000	0.48974	GCC		0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			35	202	0	0	0	1	0	35	202				
OR2L8	391190	broad.mit.edu	37	1	248112729	248112729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112729C>T	ENST00000357191.3	+	1	570	c.570C>T	c.(568-570)gaC>gaT	p.D190D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTGCATGGACACCTGGGTCT	0.473																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(568-570)gaC>gaT		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							128.0	57.0	81.0					1																	248112729		2203	4297	6500	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112729C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.570C>T	1.37:g.248112729C>T						OR2L13_ENST00000366478.2_Intron	p.D190D	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	570	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		190					Q6IF03	Silent	SNP	ENST00000357191.3	37	c.570C>T	CCDS31101.1																																																																																				0.473	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			38	224	0	0	0	1	0	38	224				
CLTC	1213	broad.mit.edu	37	17	57758684	57758684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57758684G>A	ENST00000269122.3	+	20	3368	c.3094G>A	c.(3094-3096)Gca>Aca	p.A1032T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1032	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCCTCACTGCAATTAAGGC	0.358			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(3094-3096)Gca>Aca		clathrin, heavy chain (Hc)							87.0	84.0	85.0					17																	57758684		2203	4299	6502	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57758684G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3094G>A	17.37:g.57758684G>A	ENSP00000269122:p.Ala1032Thr					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T	p.A1032T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			20	3368	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1032			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.3094G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310739	0.95629	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21932	1.98;1.98	5.41	5.41	0.78517	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.999;0.992	T	0.65776	-0.6086	10	0.87932	D	0	.	19.5641	0.95386	0.0:0.0:1.0:0.0	.	1032;1032	Q00610;Q00610-2	CLH1_HUMAN;.	T	1032	ENSP00000269122:A1032T;ENSP00000376763:A1032T	ENSP00000269122:A1032T	A	+	1	0	CLTC	55113466	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.813000	0.99286	2.680000	0.91292	0.557000	0.71058	GCA		0.358	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		77	292	0	0	0	1	0	77	292				
PTPN13	5783	broad.mit.edu	37	4	87672030	87672030	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87672030A>C	ENST00000411767.2	+	18	3121	c.3058A>C	c.(3058-3060)Aaa>Caa	p.K1020Q	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000436978.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1020					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGAGTGACAAAACTTAATAA	0.348																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(3058-3060)Aaa>Caa		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							43.0	42.0	42.0					4																	87672030		1834	4078	5912	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87672030A>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3058A>C	4.37:g.87672030A>C	ENSP00000407249:p.Lys1020Gln					PTPN13_ENST00000411767.2_Missense_Mutation_p.K1020Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q	p.K1020Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3538	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1020					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.3058A>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523597	0.27299	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.52526	0.66;0.71;0.66;0.71	6.16	4.97	0.65823	.	0.112377	0.39083	N	0.001464	T	0.40222	0.1108	L	0.41236	1.265	0.35504	D	0.800014	B;B;B	0.24618	0.063;0.065;0.107	B;B;B	0.22386	0.039;0.015;0.034	T	0.44802	-0.9304	10	0.37606	T	0.19	.	13.8654	0.63585	0.8731:0.1269:0.0:0.0	.	1020;1020;1020	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	Q	1020;1020;1020;1020;988	ENSP00000408368:K1020Q;ENSP00000394794:K1020Q;ENSP00000407249:K1020Q;ENSP00000426626:K1020Q	ENSP00000349909:K988Q	K	+	1	0	PTPN13	87891054	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.163000	0.64948	1.115000	0.41800	0.528000	0.53228	AAA		0.348	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			17	90	0	0	0	1	0	17	90				
ZNF812	729648	broad.mit.edu	37	19	9806925	9806925	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9806925C>A	ENST00000457674.2	-	2	389		c.e2-1		ZNF812_ENST00000536819.1_Splice_Site	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						ATTTGAAGTCCTGTTTGTATC	0.428																																						ENST00000457674.2																			0				ovary(1)	1						c.e2-1		zinc finger protein 812																																				SO:0001630	splice_region_variant	729648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9806925C>A		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.130-1G>T	19.37:g.9806925C>A						ZNF812_ENST00000536819.1_Splice_Site		NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN			2	389	-									Splice_Site	SNP	ENST00000457674.2	37		CCDS54215.1																																																																																				0.428	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1		Intron	22	64	1	0	4.35082e-09	1	4.56966e-09	22	64				
SBSPON	157869	broad.mit.edu	37	8	74005092	74005092	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74005092G>T	ENST00000297354.6	-	1	415	c.211C>A	c.(211-213)Cca>Aca	p.P71T	SBSPON_ENST00000519697.1_Intron	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	71	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										CACCCACCTGGGCACGCCCTG	0.687																																						ENST00000297354.6																			0											c.(211-213)Cca>Aca		somatomedin B and thrombospondin, type 1 domain containing							19.0	28.0	25.0					8																	74005092		1980	4148	6128	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:74005092G>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.211C>A	8.37:g.74005092G>T	ENSP00000297354:p.Pro71Thr					SBSPON_ENST00000519697.1_Intron	p.P71T	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			1	415	-			71			SMB.		A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.211C>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790440	0.90367	.	.	ENSG00000164764	ENST00000297354	T	0.34275	1.37	5.15	5.15	0.70609	Somatomedin B domain (1);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.70903	2.155	0.80722	D	1	D	0.59767	0.986	P	0.53035	0.716	T	0.56505	-0.7968	10	0.54805	T	0.06	.	17.4542	0.87602	0.0:0.0:1.0:0.0	.	71	Q8IVN8	RPESP_HUMAN	T	71	ENSP00000297354:P71T	ENSP00000297354:P71T	P	-	1	0	C8orf84	74167646	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.030000	0.88816	2.388000	0.81334	0.558000	0.71614	CCA		0.687	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		29	135	1	0	9.80776e-20	1	1.0954e-19	29	135				
WDR6	11180	broad.mit.edu	37	3	49051889	49051889	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051889C>A	ENST00000608424.1	+	4	2779	c.2740C>A	c.(2740-2742)Ctc>Atc	p.L914I	WDR6_ENST00000415265.2_Missense_Mutation_p.L362I|WDR6_ENST00000448293.1_Missense_Mutation_p.L863I|WDR6_ENST00000395474.3_Missense_Mutation_p.L944I			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	914					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCGATGTGTCCTCAAGGTCCA	0.602											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2830-2832)Ctc>Atc		WD repeat domain 6							101.0	97.0	98.0					3																	49051889		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051889C>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2740C>A	3.37:g.49051889C>A	ENSP00000477389:p.Leu914Ile		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000415265.2_Missense_Mutation_p.L362I|WDR6_ENST00000448293.1_Missense_Mutation_p.L863I	p.L944I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	4	3110	+			914					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2830C>A		.	.	.	.	.	.	.	.	.	.	C	29.5	5.011955	0.93346	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.71222	2.75;-0.55;-0.55	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82981	0.5155	M	0.70275	2.135	0.52501	D	0.999958	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.988;0.991;0.984	D	0.84616	0.0681	10	0.59425	D	0.04	-18.1999	16.5251	0.84328	0.0:1.0:0.0:0.0	.	362;914;863	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	I	944;362;863	ENSP00000378857:L944I;ENSP00000412195:L362I;ENSP00000413432:L863I	ENSP00000378857:L944I	L	+	1	0	WDR6	49026893	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	4.719000	0.61937	2.402000	0.81655	0.455000	0.32223	CTC		0.602	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			12	636	1	0	7.03913e-09	1	7.37812e-09	12	636				
CATSPERG	57828	broad.mit.edu	37	19	38858390	38858390	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38858390C>A	ENST00000409235.3	+	25	3019	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.I928I	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	968					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGGACGAAATCTACCGCTTCA	0.592																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2902-2904)atC>atA		catsper channel auxiliary subunit gamma							216.0	226.0	223.0					19																	38858390		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858390C>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2904C>A	19.37:g.38858390C>A						CATSPERG_ENST00000410018.1_Silent_p.I928I|CATSPERG_ENST00000215069.4_3'UTR	p.I968I	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			25	3019	+			968					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2904C>A	CCDS12514.2																																																																																				0.592	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		66	1426	1	0	1.22674e-20	1	1.37621e-20	66	1426				
SEC14L5	9717	broad.mit.edu	37	16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T	rs369407626		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	391	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1171-1173)Cgg>Tgg		SEC14-like 5 (S. cerevisiae)		C	TRP/ARG	0,3876		0,0,1938	41.0	48.0	46.0		1171	1.2	1.0	16		46	1,8273		0,1,4136	no	missense	SEC14L5	NM_014692.1	101	0,1,6074	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	391/697	5053443	1,12149	1938	4137	6075	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053443C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1171C>T	16.37:g.5053443C>T	ENSP00000251170:p.Arg391Trp						p.R391W	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			11	1351	+			391			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1171C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619072	0.66787	0.0	1.21E-4	ENSG00000103184	ENST00000251170	T	0.75704	-0.96	4.5	1.17	0.20885	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.075345	0.48767	D	0.000176	D	0.86058	0.5842	M	0.84683	2.71	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.88142	0.2845	10	0.87932	D	0	-24.0061	14.4519	0.67392	0.6133:0.3867:0.0:0.0	.	391	O43304	S14L5_HUMAN	W	391	ENSP00000251170:R391W	ENSP00000251170:R391W	R	+	1	2	SEC14L5	4993444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.010000	0.29898	0.489000	0.27749	0.555000	0.69702	CGG		0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			82	326	0	0	0	1	0	82	326				
AKTIP	64400	broad.mit.edu	37	16	53529183	53529183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53529183A>G	ENST00000394657.7	-	4	478	c.304T>C	c.(304-306)Tct>Cct	p.S102P	AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P|AKTIP_ENST00000300245.4_Missense_Mutation_p.S102P	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	102					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTTAATGCAGAGCGATAAGAT	0.383																																						ENST00000300245.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(304-306)Tct>Cct		AKT interacting protein							96.0	87.0	90.0					16																	53529183		2198	4300	6498	SO:0001583	missense	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53529183A>G	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.304T>C	16.37:g.53529183A>G	ENSP00000378152:p.Ser102Pro					AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P|AKTIP_ENST00000394657.6_Missense_Mutation_p.S102P	p.S102P			Q9H8T0	AKTIP_HUMAN			5	521	-		all_cancers(37;0.14)	102					Q503B1|Q53H38	Missense_Mutation	SNP	ENST00000394657.7	37	c.304T>C	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896442	0.91962	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.73152	-0.72;-0.72	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.051077	0.85682	D	0.000000	D	0.83862	0.5346	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.976	D;P;D	0.91635	0.999;0.885;0.936	D	0.85926	0.1449	10	0.87932	D	0	-4.2089	16.0135	0.80420	1.0:0.0:0.0:0.0	.	102;102;102	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	P	102	ENSP00000378152:S102P;ENSP00000300245:S102P	ENSP00000300245:S102P	S	-	1	0	AKTIP	52086684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.126000	0.94411	2.242000	0.73789	0.533000	0.62120	TCT		0.383	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		30	281	0	0	0	1	0	30	281				
TRPV3	162514	broad.mit.edu	37	17	3435984	3435984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3435984C>T	ENST00000576742.1	-	8	1353	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	TRPV3_ENST00000301365.4_Silent_p.P344P|TRPV3_ENST00000572519.1_Silent_p.P344P	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	344					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCAGCTGCAGCGGCGTGAGGC	0.632																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1030-1032)ccG>ccA		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						80.0	63.0	69.0					17																	3435984		2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3435984C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1032G>A	17.37:g.3435984C>T						TRPV3_ENST00000576742.1_Silent_p.P344P|TRPV3_ENST00000572519.1_Silent_p.P344P	p.P344P			Q8NET8	TRPV3_HUMAN			8	1163	-			344					Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.1032G>A	CCDS11029.1																																																																																				0.632	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		34	201	0	0	0	1	0	34	201				
KLHL36	79786	broad.mit.edu	37	16	84691332	84691332	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691332C>T	ENST00000564996.1	+	3	1060	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	307					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTCTCCGAGCGGTGTCTGGA	0.677																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(919-921)Cgg>Tgg		kelch-like family member 36							19.0	21.0	20.0					16																	84691332		2197	4298	6495	SO:0001583	missense	79786							g.chr16:84691332C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.919C>T	16.37:g.84691332C>T	ENSP00000456743:p.Arg307Trp					KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	p.R307W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	1060	+			307					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.919C>T	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840363	0.71488	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67698	-0.28	5.15	4.2	0.49525	Kelch-type beta propeller (1);	0.122178	0.56097	D	0.000030	T	0.73745	0.3626	M	0.62723	1.935	0.52099	D	0.999941	D;D	0.67145	0.996;0.983	P;P	0.53954	0.738;0.588	T	0.77760	-0.2467	10	0.87932	D	0	.	14.9005	0.70675	0.0:0.8562:0.1438:0.0	.	307;307	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	307	ENSP00000258157:R307W	ENSP00000258157:R307W	R	+	1	2	KLHL36	83248833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.730000	0.62015	1.163000	0.42636	-0.257000	0.10917	CGG		0.677	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			41	127	0	0	0	1	0	41	127				
CKB	1152	broad.mit.edu	37	14	103988793	103988793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103988793C>T	ENST00000348956.2	-	2	395	c.38G>A	c.(37-39)cGc>cAc	p.R13H	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	13	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGCCGGGAAGCGCAGCTTCAG	0.711																																					Esophageal Squamous(186;2492 2823 49929 50127)	ENST00000348956.2																			0				lung(2)|prostate(1)	3						c.(37-39)cGc>cAc		creatine kinase, brain	Creatine(DB00148)						59.0	53.0	55.0					14																	103988793		2202	4300	6502	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103988793C>T		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.38G>A	14.37:g.103988793C>T	ENSP00000299198:p.Arg13His						p.R13H	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	Epithelial(46;0.14)		2	395	-		Melanoma(154;0.155)	13			Phosphagen kinase N-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.38G>A	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524213	0.44866	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878	T;T	0.63580	-0.05;-0.05	4.17	3.28	0.37604	ATP:guanido phosphotransferase, N-terminal (3);	0.201519	0.39687	N	0.001298	T	0.50820	0.1638	L	0.50333	1.59	0.32913	D	0.514826	B	0.02656	0.0	B	0.01281	0.0	T	0.57579	-0.7787	10	0.72032	D	0.01	0.7127	5.0339	0.14424	0.0:0.6137:0.0:0.3863	.	13	P12277	KCRB_HUMAN	H	13	ENSP00000299198:R13H;ENSP00000451904:R13H	ENSP00000299198:R13H	R	-	2	0	CKB	103058546	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.145000	0.42207	1.001000	0.39076	0.297000	0.19635	CGC		0.711	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			33	133	0	0	0	1	0	33	133				
NCOR2	9612	broad.mit.edu	37	12	124856630	124856630	+	Silent	SNP	G	G	A	rs546717361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124856630G>A	ENST00000405201.1	-	20	2745	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000356219.3_Silent_p.S915S|NCOR2_ENST00000404121.2_Silent_p.S468S|NCOR2_ENST00000397355.1_Silent_p.S898S|NCOR2_ENST00000404621.1_Silent_p.S897S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	915					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTGGAGTCGCTGTCCTGGG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		12415	0.001		0.0	False		,,,				2504	0.0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2743-2745)agC>agT		nuclear receptor corepressor 2							33.0	42.0	39.0					12																	124856630		2122	4220	6342	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124856630G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2745C>T	12.37:g.124856630G>A						NCOR2_ENST00000397355.1_Silent_p.S898S|NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000405201.1_Silent_p.S915S|NCOR2_ENST00000404621.1_Silent_p.S897S|NCOR2_ENST00000404121.2_Silent_p.S468S	p.S915S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2900	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		915					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.2745C>T	CCDS41858.2																																																																																				0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		80	332	0	0	0	1	0	80	332				
LHX1	3975	broad.mit.edu	37	17	35297966	35297966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35297966G>A	ENST00000254457.5	+	3	1868	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	153					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCAGGACGACGCCAAGGACTC	0.652																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(457-459)Gcc>Acc		LIM homeobox 1							50.0	49.0	49.0					17																	35297966		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297966G>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.457G>A	17.37:g.35297966G>A	ENSP00000254457:p.Ala153Thr					RP11-445F12.2_ENST00000607336.1_RNA	p.A153T	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			3	1868	+		Breast(25;0.00607)	153					Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.457G>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290446	0.59976	.	.	ENSG00000132130	ENST00000254457	D	0.90676	-2.71	4.26	4.26	0.50523	.	0.072744	0.53938	D	0.000042	T	0.81088	0.4750	N	0.08118	0	0.58432	D	0.999994	B;B	0.15141	0.012;0.009	B;B	0.11329	0.006;0.002	T	0.74968	-0.3483	10	0.18710	T	0.47	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	139;153	B4DPA6;P48742	.;LHX1_HUMAN	T	153	ENSP00000254457:A153T	ENSP00000254457:A153T	A	+	1	0	LHX1	32372079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.524000	0.60552	2.648000	0.89879	0.561000	0.74099	GCC		0.652	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		60	289	0	0	0	1	0	60	289				
TRHDE	29953	broad.mit.edu	37	12	72667284	72667284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72667284G>T	ENST00000261180.4	+	1	822	c.726G>T	c.(724-726)gaG>gaT	p.E242D	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	242					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGCTCATCGAGAATGAGCTCC	0.602																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(724-726)gaG>gaT		thyrotropin-releasing hormone degrading enzyme							52.0	55.0	54.0					12																	72667284		2202	4299	6501	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667284G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.726G>T	12.37:g.72667284G>T	ENSP00000261180:p.Glu242Asp					TRHDE-AS1_ENST00000426250.3_RNA	p.E242D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			1	822	+			242					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.726G>T	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.57|11.57	1.677174|1.677174	0.29783|0.29783	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.04083|.	3.71|.	5.23|5.23	3.32|3.32	0.38043|0.38043	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.41373|.	0.1156|.	N|N	0.16037|0.16037	0.36|0.36	0.42043|0.42043	D|D	0.991086|0.991086	D|.	0.59357|.	0.985|.	P|.	0.54590|.	0.756|.	T|.	0.36335|.	-0.9752|.	10|.	0.27082|0.52906	T|T	0.32|0.07	.|.	10.4009|10.4009	0.44229|0.44229	0.1363:0.0:0.8637:0.0|0.1363:0.0:0.8637:0.0	.|.	242|.	Q9UKU6|.	TRHDE_HUMAN|.	D|X	242|8	ENSP00000261180:E242D|.	ENSP00000261180:E242D|ENSP00000447822:E8X	E|E	+|+	3|1	2|0	TRHDE|TRHDE	70953551|70953551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.157000|0.157000	0.22087|0.22087	3.867000|3.867000	0.56047|0.56047	0.526000|0.526000	0.28541|0.28541	0.609000|0.609000	0.83330|0.83330	GAG|GAA		0.602	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		18	523	1	0	7.07596e-05	1	7.20791e-05	18	523				
CDAN1	146059	broad.mit.edu	37	15	43024010	43024010	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43024010G>A	ENST00000356231.3	-	11	1570	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	516					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCACCACCAGGGCTCTGACA	0.527																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(1546-1548)cCt>cTt		codanin 1							33.0	36.0	35.0					15																	43024010		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43024010G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1547C>T	15.37:g.43024010G>A	ENSP00000348564:p.Pro516Leu						p.P516L	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	11	1570	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	516					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1547C>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	g	19.04	3.749927	0.69533	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87571	-2.27	5.97	3.08	0.35506	.	0.100299	0.64402	N	0.000001	D	0.90463	0.7013	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88797	0.3282	10	0.72032	D	0.01	-3.2241	8.6882	0.34251	0.1292:0.0:0.746:0.1248	.	516	Q8IWY9	CDAN1_HUMAN	L	516;514	ENSP00000348564:P516L	ENSP00000267892:P514L	P	-	2	0	CDAN1	40811302	1.000000	0.71417	0.949000	0.38748	0.659000	0.38960	6.110000	0.71535	0.417000	0.25871	-0.141000	0.14075	CCT		0.527	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		62	247	0	0	0	1	0	62	247				
MINK1	50488	broad.mit.edu	37	17	4796848	4796848	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4796848C>T	ENST00000355280.6	+	21	2716	c.2520C>T	c.(2518-2520)ggC>ggT	p.G840G	MINK1_ENST00000347992.7_Silent_p.G811G|MINK1_ENST00000453408.3_Silent_p.G820G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAGGAAGGCGAAGGCGGGC	0.672																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2518-2520)ggC>ggT		misshapen-like kinase 1							46.0	57.0	54.0					17																	4796848		1975	4138	6113	SO:0001819	synonymous_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4796848C>T	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2520C>T	17.37:g.4796848C>T						MINK1_ENST00000453408.3_Silent_p.G820G|MINK1_ENST00000347992.7_Silent_p.G811G	p.G840G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			21	2716	+			840						Silent	SNP	ENST00000355280.6	37	c.2520C>T	CCDS45588.1																																																																																				0.672	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		47	172	0	0	0	1	0	47	172				
ZNF660	285349	broad.mit.edu	37	3	44636401	44636401	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44636401T>G	ENST00000322734.2	+	3	1049	c.716T>G	c.(715-717)cTt>cGt	p.L239R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CACCAGAGACTTCATCGTAGA	0.388																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(715-717)cTt>cGt		zinc finger protein 660							74.0	77.0	76.0					3																	44636401		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636401T>G	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.716T>G	3.37:g.44636401T>G	ENSP00000324605:p.Leu239Arg					RP11-944L7.4_ENST00000457331.1_RNA	p.L239R	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	1049	+			239					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.716T>G	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454121	0.63290	.	.	ENSG00000144792	ENST00000322734	T	0.13307	2.6	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	N	0.16016	0.355	0.80722	D	1	D	0.55385	0.971	P	0.46144	0.505	T	0.24870	-1.0148	8	.	.	.	.	12.9362	0.58316	0.0:0.0:0.0:1.0	.	239	Q6AZW8	ZN660_HUMAN	R	239	ENSP00000324605:L239R	.	L	+	2	0	ZNF660	44611405	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.376000	0.20535	1.943000	0.56356	0.528000	0.53228	CTT		0.388	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		9	396	0	0	0	1	0	9	396				
NUP155	9631	broad.mit.edu	37	5	37324155	37324155	+	Missense_Mutation	SNP	C	C	T	rs200783324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37324155C>T	ENST00000231498.3	-	20	2349	c.2146G>A	c.(2146-2148)Ggt>Agt	p.G716S	NUP155_ENST00000381843.2_Missense_Mutation_p.G657S|NUP155_ENST00000513532.1_Missense_Mutation_p.G716S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	716					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTGCAAACCCTTTAGTTCT	0.353																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(2146-2148)Ggt>Agt		nucleoporin 155kDa							80.0	81.0	81.0					5																	37324155		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37324155C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2146G>A	5.37:g.37324155C>T	ENSP00000231498:p.Gly716Ser					NUP155_ENST00000513532.1_Missense_Mutation_p.G716S|NUP155_ENST00000381843.2_Missense_Mutation_p.G657S	p.G716S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		20	2349	-	all_lung(31;0.000137)		716					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.2146G>A	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103159	0.56183	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75260	-0.91;-0.92;-0.83	5.78	5.78	0.91487	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.045015	0.85682	D	0.000000	T	0.64897	0.2640	N	0.21097	0.63	0.80722	D	1	B;B	0.25486	0.127;0.008	B;B	0.34991	0.193;0.046	T	0.59418	-0.7458	10	0.02654	T	1	.	20.01	0.97447	0.0:1.0:0.0:0.0	.	716;716	E9PF10;O75694	.;NU155_HUMAN	S	716;657;678;716	ENSP00000231498:G716S;ENSP00000371265:G657S;ENSP00000422019:G716S	ENSP00000231498:G716S	G	-	1	0	NUP155	37359912	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.876000	0.75556	2.725000	0.93324	0.655000	0.94253	GGT		0.353	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		43	220	0	0	0	1	0	43	220				
FCGBP	8857	broad.mit.edu	37	19	40357475	40357475	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357475C>T	ENST00000221347.6	-	34	15845	c.15838G>A	c.(15838-15840)Gaa>Aaa	p.E5280K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5280	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCTGGACTTCGGCAACTACA	0.577																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15838-15840)Gaa>Aaa		Fc fragment of IgG binding protein							108.0	100.0	103.0					19																	40357475		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40357475C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15838G>A	19.37:g.40357475C>T	ENSP00000221347:p.Glu5280Lys						p.E5280K	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15845	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5280			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15838G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586176	0.46110	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.45	3.42	0.39159	von Willebrand factor, type D domain (3);	0.479844	0.13730	U	0.366800	T	0.46464	0.1394	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.56788	0.806	T	0.24404	-1.0161	10	0.20046	T	0.44	.	8.1844	0.31330	0.0:0.8913:0.0:0.1087	.	5280	Q9Y6R7	FCGBP_HUMAN	K	5280	ENSP00000221347:E5280K	ENSP00000221347:E5280K	E	-	1	0	FCGBP	45049315	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	1.529000	0.35996	1.103000	0.41568	-0.136000	0.14681	GAA		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		58	245	0	0	0	1	0	58	245				
GRHL3	57822	broad.mit.edu	37	1	24663190	24663190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24663190G>A	ENST00000350501.5	+	4	612	c.485G>A	c.(484-486)aGc>aAc	p.S162N	GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000361548.4_Missense_Mutation_p.S162N	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	162					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTGTGGACAGCTACCTGTTA	0.597																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(484-486)aGc>aAc		grainyhead-like 3 (Drosophila)							84.0	93.0	90.0					1																	24663190		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663190G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.485G>A	1.37:g.24663190G>A	ENSP00000288955:p.Ser162Asn					GRHL3_ENST00000350501.5_Missense_Mutation_p.S162N|GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N|GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000530984.1_3'UTR	p.S162N	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	4	715	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	162					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.485G>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594031	0.46214	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12984	2.89;2.63;2.87;2.88;2.88	6.02	6.02	0.97574	.	0.562092	0.19630	N	0.109684	T	0.14485	0.0350	L	0.56769	1.78	0.28519	N	0.913146	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.16722	0.007;0.016;0.016	T	0.09271	-1.0682	10	0.24483	T	0.36	-22.351	9.0793	0.36542	0.0774:0.1595:0.7631:0.0	.	116;167;162	A2A297;Q8TE85-2;G3XAF0	.;.;.	N	162;69;162;116;167	ENSP00000354943:S162N;ENSP00000340543:S69N;ENSP00000288955:S162N;ENSP00000348333:S116N;ENSP00000236255:S167N	ENSP00000236255:S167N	S	+	2	0	GRHL3	24535777	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.489000	0.35562	2.865000	0.98341	0.655000	0.94253	AGC		0.597	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		69	611	0	0	0	1	0	69	611				
CLCN7	1186	broad.mit.edu	37	16	1509188	1509188	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1509188G>A	ENST00000382745.4	-	7	1200	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CLCN7_ENST00000262318.8_Splice_Site_p.P175S|CLCN7_ENST00000448525.1_Splice_Site_p.P175S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	199					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCACCGGCTGAAAGAGG	0.657																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.e7-1		chloride channel, voltage-sensitive 7							34.0	36.0	35.0					16																	1509188		2197	4300	6497	SO:0001630	splice_region_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1509188G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.595-1C>T	16.37:g.1509188G>A						CLCN7_ENST00000448525.1_Splice_Site_p.P175_splice|CLCN7_ENST00000262318.8_Splice_Site_p.P175_splice	p.P199_splice	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			7	1200	-		Hepatocellular(780;0.0893)	199					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Splice_Site	SNP	ENST00000382745.4	37	c.594_splice	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224290	0.79576	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.82984	-1.67;-1.67	4.67	4.67	0.58626	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.976	D	0.93486	0.6831	10	0.87932	D	0	-20.5361	11.72	0.51677	0.0:0.0:0.8233:0.1767	.	175;199	E9PDB9;P51798	.;CLCN7_HUMAN	S	175;152;199;141	ENSP00000410907:P175S;ENSP00000372193:P199S	ENSP00000262318:P152S	P	-	1	0	CLCN7	1449189	1.000000	0.71417	0.689000	0.30133	0.060000	0.15804	6.343000	0.72986	2.314000	0.78098	0.655000	0.94253	CCG		0.657	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	Missense_Mutation	32	139	0	0	0	1	0	32	139				
OR6B2	389090	broad.mit.edu	37	2	240969775	240969775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240969775C>T	ENST00000402971.2	-	1	131	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGAGCAGGTACTGCAGCCCTG	0.612																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(70-72)caG>caA		olfactory receptor, family 6, subfamily B, member 2							46.0	51.0	50.0					2																	240969775		2043	4191	6234	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969775C>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.72G>A	2.37:g.240969775C>T							p.Q24Q	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	131	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	24					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.72G>A	CCDS46559.1																																																																																				0.612	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		97	242	0	0	0	1	0	97	242				
ATG2B	55102	broad.mit.edu	37	14	96777551	96777551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96777551G>A	ENST00000359933.4	-	28	4957	c.4064C>T	c.(4063-4065)gCg>gTg	p.A1355V	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1355					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCATTAACGCAGCACAAGA	0.458																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(4063-4065)gCg>gTg		autophagy related 2B							186.0	176.0	179.0					14																	96777551		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96777551G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4064C>T	14.37:g.96777551G>A	ENSP00000353010:p.Ala1355Val					ATG2B_ENST00000261834.5_5'UTR	p.A1355V	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	28	4957	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1355					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4064C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968575	0.74131	.	.	ENSG00000066739	ENST00000359933	T	0.12879	2.64	5.48	5.48	0.80851	.	0.104808	0.64402	D	0.000004	T	0.40645	0.1125	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07751	-1.0756	10	0.30854	T	0.27	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1355	Q96BY7	ATG2B_HUMAN	V	1355	ENSP00000353010:A1355V	ENSP00000353010:A1355V	A	-	2	0	ATG2B	95847304	1.000000	0.71417	0.881000	0.34555	0.567000	0.35839	9.134000	0.94467	2.576000	0.86940	0.655000	0.94253	GCG		0.458	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		117	529	0	0	0	1	0	117	529				
KNTC1	9735	broad.mit.edu	37	12	123026646	123026646	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123026646A>G	ENST00000333479.7	+	6	672	c.495A>G	c.(493-495)acA>acG	p.T165T	KNTC1_ENST00000450485.2_Silent_p.T165T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	165					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTGTATTACAAACCTTCAGC	0.239																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(493-495)acA>acG		kinetochore associated 1							35.0	34.0	34.0					12																	123026646		1779	4053	5832	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123026646A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.495A>G	12.37:g.123026646A>G						KNTC1_ENST00000450485.2_Silent_p.T165T	p.T165T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	6	672	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		165					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.495A>G	CCDS45002.1																																																																																				0.239	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	34	0	0	0	1	0	5	34				
FBN2	2201	broad.mit.edu	37	5	127872100	127872100	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127872100A>G	ENST00000508053.1	-	8	1306	c.332T>C	c.(331-333)aTt>aCt	p.I111T	FBN2_ENST00000262464.4_Missense_Mutation_p.I111T|FBN2_ENST00000508989.1_Missense_Mutation_p.I111T			P35556	FBN2_HUMAN	fibrillin 2	111	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCACGGACAATGCACTGGTT	0.612																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(331-333)aTt>aCt		fibrillin 2							79.0	65.0	70.0					5																	127872100		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127872100A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.332T>C	5.37:g.127872100A>G	ENSP00000424571:p.Ile111Thr					FBN2_ENST00000508989.1_Missense_Mutation_p.I111T|FBN2_ENST00000262464.4_Missense_Mutation_p.I111T	p.I111T			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	8	1306	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	111			EGF-like 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.332T>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067395	0.76301	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86694	-1.82;-1.82;-2.16;-0.15	5.32	5.32	0.75619	.	0.151063	0.44483	D	0.000451	D	0.90903	0.7141	M	0.65975	2.015	0.54753	D	0.999988	P;D;P;P	0.56521	0.867;0.976;0.651;0.651	B;P;B;B	0.57101	0.382;0.813;0.212;0.165	D	0.91538	0.5247	10	0.59425	D	0.04	.	15.4316	0.75105	1.0:0.0:0.0:0.0	.	111;111;111;111	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	T	111	ENSP00000262464:I111T;ENSP00000424571:I111T;ENSP00000425596:I111T;ENSP00000424753:I111T	ENSP00000262464:I111T	I	-	2	0	FBN2	127899999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.827000	0.92041	2.371000	0.80710	0.533000	0.62120	ATT		0.612	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		37	117	0	0	0	1	0	37	117				
MMP8	4317	broad.mit.edu	37	11	102584189	102584189	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102584189C>A	ENST00000236826.3	-	10	1393		c.e10-1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)						collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TGGAAGAAATCTATAAAAAAA	0.353																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.e10-1		matrix metallopeptidase 8 (neutrophil collagenase)							78.0	71.0	73.0					11																	102584189		2203	4299	6502	SO:0001630	splice_region_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584189C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1295-1G>T	11.37:g.102584189C>A								NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	10	1393	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						Q45F99	Splice_Site	SNP	ENST00000236826.3	37		CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005730	0.54254	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1124	0.72368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP8	102089399	0.988000	0.35896	0.065000	0.19835	0.338000	0.28826	3.448000	0.52943	2.622000	0.88805	0.563000	0.77884	.		0.353	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	Intron	9	249	1	0	0.0581538	1	0.0582741	9	249				
MDN1	23195	broad.mit.edu	37	6	90494754	90494754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90494754G>A	ENST00000369393.3	-	9	1541	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	MDN1_ENST00000428876.1_Silent_p.L476L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	476					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCTTATCCAGGTTATCCAGG	0.438																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(1426-1428)Ctg>Ttg		MDN1, midasin homolog (yeast)							261.0	249.0	253.0					6																	90494754		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90494754G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1426C>T	6.37:g.90494754G>A						MDN1_ENST00000428876.1_Silent_p.L476L	p.L476L			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	9	1541	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	476					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.1426C>T	CCDS5024.1																																																																																				0.438	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			13	937	0	0	0	1	0	13	937				
SBNO2	22904	broad.mit.edu	37	19	1109688	1109688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109688G>T	ENST00000361757.3	-	27	3354	c.3117C>A	c.(3115-3117)ttC>ttA	p.F1039L	SBNO2_ENST00000587024.1_Missense_Mutation_p.F1029L|SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1039					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCTTGTAGAAGACCACCT	0.682																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(3115-3117)ttC>ttA		strawberry notch homolog 2 (Drosophila)							35.0	41.0	39.0					19																	1109688		1903	4115	6018	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1109688G>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3117C>A	19.37:g.1109688G>T	ENSP00000354733:p.Phe1039Leu					SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L|SBNO2_ENST00000587024.1_Missense_Mutation_p.F1029L	p.F1039L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3354	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	1039					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.3117C>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	1.265	-0.614791	0.03663	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.18	0.536	0.17138	.	0.115356	0.64402	N	0.000012	T	0.10337	0.0253	N	0.03029	-0.43	0.26794	N	0.969336	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.34104	-0.9842	9	0.02654	T	1	-21.3351	5.3231	0.15891	0.1923:0.1637:0.644:0.0	.	1039;982	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	1039;982;1057	.	ENSP00000250872:F1057L	F	-	3	2	SBNO2	1060688	0.830000	0.29337	1.000000	0.80357	0.602000	0.36980	-0.159000	0.10056	0.201000	0.20466	-0.379000	0.06801	TTC		0.682	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		18	188	1	0	3.32936e-07	1	3.45006e-07	18	188				
GSE1	23199	broad.mit.edu	37	16	85695124	85695124	+	Silent	SNP	C	C	T	rs141847715	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85695124C>T	ENST00000253458.7	+	9	2189	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	GSE1_ENST00000405402.2_Silent_p.P567P|RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000393243.1_Silent_p.P598P	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	671	Pro-rich.							p.P671L(1)									TGCCCGGGCCCGGGCCCTTCC	0.711																																						ENST00000253458.7																			1	Substitution - Missense(1)	p.P671L(1)	skin(1)								c.(2011-2013)ccC>ccT		Gse1 coiled-coil protein		C	,	1,4369		0,1,2184	13.0	17.0	16.0		1701,2013	-3.9	1.0	16	dbSNP_134	16	3,8567		0,3,4282	no	coding-synonymous,coding-synonymous	KIAA0182	NM_001134473.1,NM_014615.2	,	0,4,6466	TT,TC,CC		0.035,0.0229,0.0309	,	567/1114,671/1218	85695124	4,12936	2185	4285	6470	SO:0001819	synonymous_variant	23199							g.chr16:85695124C>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2013C>T	16.37:g.85695124C>T						GSE1_ENST00000405402.2_Silent_p.P567P|GSE1_ENST00000393243.1_Silent_p.P598P	p.P671P	NM_014615.2	NP_055430.1					9	2189	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.2013C>T	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	c	6.962	0.547409	0.13312	2.29E-4	3.5E-4	ENSG00000131149	ENST00000412692	T	0.30448	1.53	3.62	-3.9	0.04181	.	0.055638	0.64402	D	0.000001	T	0.09555	0.0235	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36578	-0.9742	7	0.02654	T	1	-15.4794	4.8227	0.13400	0.0:0.3707:0.3445:0.2848	.	.	.	.	L	478	ENSP00000402367:P478L	ENSP00000402367:P478L	P	+	2	0	KIAA0182	84252625	0.050000	0.20438	0.964000	0.40570	0.638000	0.38207	-1.449000	0.02392	-0.822000	0.04306	-0.405000	0.06341	CCG		0.711	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		7	194	0	0	0	1	0	7	194				
PLA2G4E	123745	broad.mit.edu	37	15	42285034	42285034	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42285034G>A	ENST00000399518.3	-	13	1857	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	PLA2G4E_ENST00000413860.2_Silent_p.R428R|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	445	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCTGGAATTTGCGGAGCTGGT	0.582																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(1369-1371)cgC>cgT		phospholipase A2, group IVE							49.0	51.0	51.0					15																	42285034		1930	4144	6074	SO:0001819	synonymous_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42285034G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1371C>T	15.37:g.42285034G>A						PLA2G4E_ENST00000413860.2_Silent_p.R428R|CTD-2382E5.1_ENST00000499478.2_RNA	p.R457R	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	13	1857	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	445			PLA2c.		Q6ZSC0	Silent	SNP	ENST00000399518.3	37	c.1371C>T	CCDS55962.1																																																																																				0.582	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		47	221	0	0	0	1	0	47	221				
SREBF1	6720	broad.mit.edu	37	17	17720902	17720902	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17720902C>A	ENST00000261646.5	-	7	1589				SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000435530.2_Nonsense_Mutation_p.E470*|SREBF1_ENST00000355815.4_Intron|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000395757.1_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1						aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ctcagttattctgtctatgaa	0.612																																						ENST00000435530.2																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1408-1410)Gaa>Taa		sterol regulatory element binding transcription factor 1																																				SO:0001627	intron_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17720902C>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1404+107G>T	17.37:g.17720902C>A						SREBF1_ENST00000355815.4_Intron|SREBF1_ENST00000261646.5_Intron|SREBF1_ENST00000395757.1_Intron|SREBF1_ENST00000338854.5_Intron	p.E470*			P36956	SRBP1_HUMAN			8	1407	-			470			Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Nonsense_Mutation	SNP	ENST00000261646.5	37	c.1408G>T	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.663734|13.663734	0.99756|0.99756	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000435530|ENST00000395756	.|.	.|.	.|.	3.4|3.4	0.227|0.227	0.15359|0.15359	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30541	.|0.0768	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.32467	.|0.372	.|B	.|0.36289	.|0.221	.|T	.|0.25012	.|-1.0144	.|7	0.02654|0.39692	T|T	1|0.17	.|.	6.6676|6.6676	0.23050|0.23050	0.0:0.6402:0.0:0.3598|0.0:0.6402:0.0:0.3598	.|.	.|74	.|A8MTU8	.|.	X|I	470|74	.|.	ENSP00000413389:E470X|ENSP00000379105:R74I	E|R	-|-	1|2	0|0	SREBF1|SREBF1	17661627|17661627	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.904000|0.904000	0.53231|0.53231	0.757000|0.757000	0.26433|0.26433	0.234000|0.234000	0.21139|0.21139	0.511000|0.511000	0.50034|0.50034	GAA|AGA		0.612	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		5	36	1	0	0.000602214	1	0.000609647	5	36				
ARAP3	64411	broad.mit.edu	37	5	141046090	141046090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141046090C>T	ENST00000239440.4	-	17	2538	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S|ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	825					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGAAGGAGGCCAAACCCTGAC	0.706																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2473-2475)Ggc>Agc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							16.0	22.0	20.0					5																	141046090		2201	4299	6500	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141046090C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2473G>A	5.37:g.141046090C>T	ENSP00000239440:p.Gly825Ser					ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S	p.G825S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			17	2538	-			825					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2473G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491677	0.64074	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.28895	1.59;1.59;1.59	5.53	5.53	0.82687	Pleckstrin homology domain (1);	0.240387	0.40302	N	0.001133	T	0.37156	0.0993	N	0.22421	0.69	0.36747	D	0.882547	D;D;D	0.67145	0.979;0.996;0.993	P;P;P	0.61477	0.69;0.889;0.777	T	0.42498	-0.9448	10	0.66056	D	0.02	.	12.3757	0.55279	0.2788:0.7212:0.0:0.0	.	487;727;825	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	S	727;825;487	ENSP00000421826:G727S;ENSP00000239440:G825S;ENSP00000421468:G487S	ENSP00000239440:G825S	G	-	1	0	ARAP3	141026274	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	5.232000	0.65332	2.593000	0.87608	0.655000	0.94253	GGC		0.706	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		20	95	0	0	0	1	0	20	95				
ZFHX4	79776	broad.mit.edu	37	8	77618294	77618294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618294G>T	ENST00000521891.2	+	2	2419	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATATCAGCAGACCCTGGAGG	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1969-1971)caG>caT		zinc finger homeobox 4							63.0	66.0	65.0					8																	77618294		1961	4167	6128	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618294G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1971G>T	8.37:g.77618294G>T	ENSP00000430497:p.Gln657His	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H	p.Q657H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2419	+			657					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1971G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320144	0.23994	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53857	0.63;0.64;0.61;0.6	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.42294	U	0.000722	T	0.70937	0.3281	L	0.58302	1.8	0.80722	D	1	D;D;D;P	0.76494	0.998;0.999;0.999;0.86	D;D;D;P	0.85130	0.993;0.997;0.997;0.8	T	0.72620	-0.4238	10	0.87932	D	0	.	19.15	0.93483	0.0:0.0:1.0:0.0	.	657;657;657;657	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	657	ENSP00000430497:Q657H;ENSP00000399605:Q657H;ENSP00000050961:Q657H;ENSP00000430848:Q657H	ENSP00000050961:Q657H	Q	+	3	2	ZFHX4	77780849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.482000	0.66833	2.750000	0.94351	0.655000	0.94253	CAG		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	232	1	0	5.18039e-06	1	5.32547e-06	7	232				
ENPP7	339221	broad.mit.edu	37	17	77711050	77711050	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711050C>T	ENST00000328313.5	+	4	1458	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTGCCCATGCTGCACACAGG	0.637																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1237-1239)Ctg>Ttg		ectonucleotide pyrophosphatase/phosphodiesterase 7							28.0	24.0	25.0					17																	77711050		2202	4300	6502	SO:0001819	synonymous_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77711050C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1237C>T	17.37:g.77711050C>T							p.L413L	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1458	+			413						Silent	SNP	ENST00000328313.5	37	c.1237C>T	CCDS11763.1																																																																																				0.637	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		11	107	0	0	0	1	0	11	107				
LRRIQ3	127255	broad.mit.edu	37	1	74648414	74648414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74648414G>A	ENST00000395089.1	-	2	380	c.381C>T	c.(379-381)ctC>ctT	p.L127L	LRRIQ3_ENST00000370911.3_Silent_p.L127L|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Silent_p.L127L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	127										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAAACATAGTGAGGGCAATGA	0.373																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(379-381)ctC>ctT		leucine-rich repeats and IQ motif containing 3							104.0	98.0	100.0					1																	74648414		2203	4299	6502	SO:0001819	synonymous_variant	127255							g.chr1:74648414G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.381C>T	1.37:g.74648414G>A						LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000370911.3_Silent_p.L127L|LRRIQ3_ENST00000395089.1_Silent_p.L127L	p.L127L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			3	572	-			127					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.381C>T	CCDS41350.1																																																																																				0.373	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		31	317	0	0	0	1	0	31	317				
MDN1	23195	broad.mit.edu	37	6	90411377	90411377	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90411377G>T	ENST00000369393.3	-	55	8442	c.8327C>A	c.(8326-8328)aCt>aAt	p.T2776N	MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2776					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTGAGACAGTCTGAACTTC	0.423																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(8326-8328)aCt>aAt		MDN1, midasin homolog (yeast)							45.0	46.0	45.0					6																	90411377		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90411377G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8327C>A	6.37:g.90411377G>T	ENSP00000358400:p.Thr2776Asn					MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N	p.T2776N			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	55	8442	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2776					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.8327C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193207	0.38707	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03212	4.01;4.01	5.69	4.82	0.62117	.	0.472428	0.22787	N	0.055659	T	0.01320	0.0043	N	0.24115	0.695	0.34143	D	0.6666	P	0.34462	0.454	B	0.29785	0.107	T	0.55347	-0.8155	10	0.37606	T	0.19	.	15.042	0.71799	0.0692:0.0:0.9308:0.0	.	2776	Q9NU22	MDN1_HUMAN	N	2776	ENSP00000358400:T2776N;ENSP00000413970:T2776N	ENSP00000358400:T2776N	T	-	2	0	MDN1	90468098	1.000000	0.71417	0.534000	0.28014	0.945000	0.59286	7.045000	0.76585	1.379000	0.46325	0.585000	0.79938	ACT		0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			44	214	1	0	1.47197e-15	1	1.61021e-15	44	214				
EPB41L2	2037	broad.mit.edu	37	6	131190813	131190813	+	Missense_Mutation	SNP	C	C	T	rs150873575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131190813C>T	ENST00000337057.3	-	15	2678	c.2497G>A	c.(2497-2499)Gct>Act	p.A833T	EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	833					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGCTTAAGAGCGCCTTCGTGT	0.458																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2497-2499)Gct>Act		erythrocyte membrane protein band 4.1-like 2		C	,,,,THR/ALA	0,4406		0,0,2203	252.0	220.0	231.0		,,,,2497	2.7	0.3	6	dbSNP_134	231	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,missense	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,benign	,,,,833/1006	131190813	1,13005	2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131190813C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2497G>A	6.37:g.131190813C>T	ENSP00000338481:p.Ala833Thr					EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000392427.3_Intron	p.A833T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2678	-	Breast(56;0.0639)		833					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2497G>A	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.543|3.543	-0.093344|-0.093344	0.07053|0.07053	0.0|0.0	1.16E-4|1.16E-4	ENSG00000079819|ENSG00000079819	ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423|ENST00000456097	T;T;T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98;1.98;1.98|.	5.71|5.71	2.66|2.66	0.31614|0.31614	.|.	2.696700|.	0.01772|.	N|.	0.031234|.	T|T	0.08714|0.08714	0.0216|0.0216	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B;B|.	0.25312|.	0.123;0.002;0.001|.	B;B;B|.	0.12837|.	0.008;0.0;0.0|.	T|T	0.37220|0.37220	-0.9715|-0.9715	10|5	0.13470|.	T|.	0.59|.	.|.	8.3019|8.3019	0.32019|0.32019	0.0:0.4306:0.0:0.5694|0.0:0.4306:0.0:0.5694	.|.	230;833;211|.	E9PCC2;O43491;Q6R5J7|.	.;E41L2_HUMAN;.|.	T|H	833;230;833;763;211;763;232|375	ENSP00000338481:A833T;ENSP00000357110:A833T;ENSP00000436348:A763T;ENSP00000437207:A211T;ENSP00000436641:A763T;ENSP00000437295:A232T|.	ENSP00000257986:A230T|.	A|R	-|-	1|2	0|0	EPB41L2|EPB41L2	131232506|131232506	0.009000|0.009000	0.17119|0.17119	0.268000|0.268000	0.24571|0.24571	0.645000|0.645000	0.38454|0.38454	0.418000|0.418000	0.21230|0.21230	0.205000|0.205000	0.20568|0.20568	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.458	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			25	1132	0	0	0	1	0	25	1132				
BMP4	652	broad.mit.edu	37	14	54417408	54417408	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417408A>G	ENST00000245451.4	-	4	962	c.569T>C	c.(568-570)gTg>gCg	p.V190A	BMP4_ENST00000559087.1_Missense_Mutation_p.V190A|BMP4_ENST00000558984.1_Missense_Mutation_p.V190A|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	190					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CCCAGGCACCACTTCTGCTGG	0.567																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(568-570)gTg>gCg		bone morphogenetic protein 4							66.0	64.0	65.0					14																	54417408		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417408A>G	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.569T>C	14.37:g.54417408A>G	ENSP00000245451:p.Val190Ala					BMP4_ENST00000559087.1_Missense_Mutation_p.V190A|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A|BMP4_ENST00000558984.1_Missense_Mutation_p.V190A	p.V190A	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	962	-			190					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.569T>C	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.642132	0.00799	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.71103	-0.54;-0.54	5.2	-1.61	0.08399	Transforming growth factor-beta, N-terminal (1);	1.161200	0.06292	N	0.699329	T	0.44307	0.1287	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	10	0.12430	T	0.62	.	5.6727	0.17731	0.3354:0.1821:0.4825:0.0	.	190	P12644	BMP4_HUMAN	A	190	ENSP00000245451:V190A;ENSP00000394165:V190A	ENSP00000245451:V190A	V	-	2	0	BMP4	53487158	0.002000	0.14202	0.783000	0.31826	0.852000	0.48524	-0.047000	0.11963	-0.143000	0.11334	-0.408000	0.06270	GTG		0.567	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		75	297	0	0	0	1	0	75	297				
SLX4	84464	broad.mit.edu	37	16	3640459	3640459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3640459C>T	ENST00000294008.3	-	12	3820	c.3180G>A	c.(3178-3180)cgG>cgA	p.R1060R		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1060	Interaction with PLK1 and TERF2-TERF2IP.		R -> W. {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGCCACGGGACCGGGGTGTTG	0.632								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3178-3180)cgG>cgA	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							83.0	93.0	89.0					16																	3640459		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640459C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3180G>A	16.37:g.3640459C>T							p.R1060R	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3820	-			1060			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.3180G>A	CCDS10506.2																																																																																				0.632	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		172	666	0	0	0	1	0	172	666				
COL28A1	340267	broad.mit.edu	37	7	7545675	7545675	+	Silent	SNP	G	G	A	rs368151858		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7545675G>A	ENST00000399429.3	-	11	1136	c.996C>T	c.(994-996)gaC>gaT	p.D332D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	332	Collagen-like 2.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGGGCCTGGGTCTCCTGGAG	0.448																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(994-996)gaC>gaT		collagen, type XXVIII, alpha 1		G		0,3706		0,0,1853	93.0	91.0	92.0		996	-5.9	0.5	7		92	1,8193		0,1,4096	no	coding-synonymous	COL28A1	NM_001037763.2		0,1,5949	AA,AG,GG		0.0122,0.0,0.0084		332/1126	7545675	1,11899	1853	4097	5950	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7545675G>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.996C>T	7.37:g.7545675G>A							p.D332D	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	11	1136	-		Ovarian(82;0.0789)	332			Collagen-like 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.996C>T	CCDS43553.1																																																																																				0.448	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		52	236	0	0	0	1	0	52	236				
MGEA5	10724	broad.mit.edu	37	10	103559127	103559127	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103559127G>A	ENST00000361464.3	-	9	1676	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000370094.3_Silent_p.T427T|MGEA5_ENST00000439817.1_Silent_p.T374T|MGEA5_ENST00000357797.5_Silent_p.T374T	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	427					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGTTACTACGGTTGTGGCAT	0.453																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1279-1281)acC>acT		meningioma expressed antigen 5 (hyaluronidase)							117.0	123.0	121.0					10																	103559127		2203	4300	6503	SO:0001819	synonymous_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103559127G>A	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1281C>T	10.37:g.103559127G>A						MGEA5_ENST00000357797.5_Silent_p.T374T|MGEA5_ENST00000439817.1_Silent_p.T374T|MGEA5_ENST00000370094.3_Silent_p.T427T	p.T427T	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	1676	-		Colorectal(252;0.207)	427					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	37	c.1281C>T	CCDS7520.1																																																																																				0.453	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		151	642	0	0	0	1	0	151	642				
GSTA5	221357	broad.mit.edu	37	6	52699025	52699025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52699025G>T	ENST00000370989.2	-	4	357	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	110	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGACATATGAGCAGAAGAAGG	0.383																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(328-330)Ctc>Atc		glutathione S-transferase alpha 5	Glutathione(DB00143)						201.0	192.0	195.0					6																	52699025		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52699025G>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.328C>A	6.37:g.52699025G>T	ENSP00000360028:p.Leu110Ile					GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I	p.L110I			Q7RTV2	GSTA5_HUMAN			5	486	-	Lung NSC(77;0.0912)		110			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.328C>A	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	6.796	0.515794	0.12944	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02085	4.46;4.46	2.58	-2.38	0.06622	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.065164	0.64402	D	0.000009	T	0.00241	0.0007	N	0.00750	-1.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41840	-0.9486	10	0.52906	T	0.07	.	3.5426	0.07816	0.2105:0.0:0.4597:0.3298	.	110	Q7RTV2	GSTA5_HUMAN	I	110	ENSP00000360028:L110I;ENSP00000284562:L110I	ENSP00000284562:L110I	L	-	1	0	GSTA5	52806984	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.157000	0.10085	-0.900000	0.03896	-1.296000	0.01341	CTC		0.383	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		146	677	1	0	8.19216e-75	1	1.04411e-74	146	677				
CEP162	22832	broad.mit.edu	37	6	84879094	84879094	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84879094T>C	ENST00000403245.3	-	18	2452	c.2338A>G	c.(2338-2340)Aga>Gga	p.R780G	KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTGATTTCTTGTGGGCTCT	0.318																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2338-2340)Aga>Gga		KIAA1009							73.0	68.0	70.0					6																	84879094		2202	4299	6501	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84879094T>C																												ENST00000403245.3:c.2338A>G	6.37:g.84879094T>C	ENSP00000385215:p.Arg780Gly					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G	p.R780G	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	18	2452	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	780						Missense_Mutation	SNP	ENST00000403245.3	37	c.2338A>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520900	0.44866	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32515	1.45;1.45	5.96	4.79	0.61399	.	0.320498	0.31167	N	0.008138	T	0.14184	0.0343	L	0.40543	1.245	0.25363	N	0.988764	P	0.39480	0.675	B	0.43658	0.426	T	0.13229	-1.0517	10	0.20519	T	0.43	-7.1047	12.6876	0.56956	0.0:0.0:0.1379:0.8621	.	780	Q5TB80	QN1_HUMAN	G	704;780	ENSP00000257766:R704G;ENSP00000385215:R780G	ENSP00000257766:R704G	R	-	1	2	KIAA1009	84935813	0.881000	0.30235	0.732000	0.30844	0.971000	0.66376	3.972000	0.56838	1.064000	0.40671	0.460000	0.39030	AGA		0.318	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			9	25	0	0	0	1	0	9	25				
GPRC5B	51704	broad.mit.edu	37	16	19883930	19883930	+	Missense_Mutation	SNP	G	G	A	rs200327225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883930G>A	ENST00000300571.2	-	2	429	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	80					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R80W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGGCAGCCGCACCAGGAGG	0.637																																						ENST00000300571.2																			1	Substitution - Missense(1)	p.R80W(1)	endometrium(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(238-240)Cgg>Tgg		G protein-coupled receptor, family C, group 5, member B		G	TRP/ARG	1,4393		0,1,2196	38.0	43.0	41.0		238	2.3	1.0	16		41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPRC5B	NM_016235.1	101	0,3,6494	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	80/404	19883930	3,12991	2197	4300	6497	SO:0001583	missense	0							g.chr16:19883930G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.238C>T	16.37:g.19883930G>A	ENSP00000300571:p.Arg80Trp					GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W	p.R80W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	429	-			80					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.238C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446399	0.63178	2.28E-4	2.33E-4	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89552	-2.53;-2.53;-2.53	5.8	2.32	0.28847	GPCR, family 3, C-terminal (1);	0.063725	0.64402	D	0.000012	D	0.92492	0.7616	M	0.64997	1.995	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	P;D	0.87578	0.861;0.998	D	0.91511	0.5227	9	.	.	.	.	13.9379	0.64036	0.0:0.0:0.4665:0.5335	.	106;80	B7Z831;Q9NZH0	.;GPC5B_HUMAN	W	80;80;80;106	ENSP00000300571:R80W;ENSP00000442858:R80W;ENSP00000441775:R106W	.	R	-	1	2	GPRC5B	19791431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.630000	0.46494	0.737000	0.32582	0.655000	0.94253	CGG		0.637	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			61	276	0	0	0	1	0	61	276				
PIH1D2	120379	broad.mit.edu	37	11	111941873	111941873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111941873G>A	ENST00000280350.4	-	4	658	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000530641.1_Missense_Mutation_p.H146Y|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	146										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TGGTAAGAGTGTGAGAGGGTG	0.343																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(436-438)Cac>Tac		PIH1 domain containing 2							175.0	172.0	173.0					11																	111941873		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111941873G>A	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.436C>T	11.37:g.111941873G>A	ENSP00000280350:p.His146Tyr					PIH1D2_ENST00000280350.4_Missense_Mutation_p.H146Y|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y	p.H146Y			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	4	761	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	146					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.436C>T	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368591|3.368591	0.61624|0.61624	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.17854|.	2.25;2.25;2.25;2.25;2.25;2.25|.	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.628571|.	0.18277|.	N|.	0.146140|.	T|T	0.73651|0.73651	0.3614|0.3614	M|M	0.72479|0.72479	2.2|2.2	0.41608|0.41608	D|D	0.988891|0.988891	D;D;D|.	0.57571|.	0.964;0.98;0.97|.	P;P;P|.	0.51516|.	0.672;0.672;0.663|.	T|T	0.74657|0.74657	-0.3592|-0.3592	10|5	0.56958|.	D|.	0.05|.	-1.1106|-1.1106	15.6913|15.6913	0.77457|0.77457	0.0:0.0:0.8542:0.1458|0.0:0.0:0.8542:0.1458	.|.	146;146;146|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	Y|I	146;146;146;146;146;111|101	ENSP00000434275:H146Y;ENSP00000388209:H146Y;ENSP00000431841:H146Y;ENSP00000280350:H146Y;ENSP00000431147:H146Y;ENSP00000433297:H111Y|.	ENSP00000280350:H146Y|.	H|T	-|-	1|2	0|0	PIH1D2|PIH1D2	111447083|111447083	0.694000|0.694000	0.27738|0.27738	0.950000|0.950000	0.38849|0.38849	0.832000|0.832000	0.47134|0.47134	1.479000|1.479000	0.35453|0.35453	1.467000|1.467000	0.48044|0.48044	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.343	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		122	631	0	0	0	1	0	122	631				
WEE2	494551	broad.mit.edu	37	7	141430103	141430103	+	Missense_Mutation	SNP	C	C	T	rs376582395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141430103C>T	ENST00000397541.2	+	12	2093	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	563					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.R563C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCAGGAGAGCGTGAGCCTCT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17977	0.0		0.0	False		,,,				2504	0.001					ENST00000397541.2																			1	Substitution - Missense(1)	p.R563C(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1687-1689)Cgt>Tgt		WEE1 homolog 2 (S. pombe)		C	CYS/ARG	1,3759		0,1,1879	126.0	115.0	119.0		1687	3.7	0.1	7		119	0,8230		0,0,4115	no	missense	WEE2	NM_001105558.1	180	0,1,5994	TT,TC,CC		0.0,0.0266,0.0083	benign	563/568	141430103	1,11989	1880	4115	5995	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141430103C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1687C>T	7.37:g.141430103C>T	ENSP00000380675:p.Arg563Cys					WEE2-AS1_ENST00000488785.1_RNA	p.R563C	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			12	2093	+	Melanoma(164;0.0171)		563						Missense_Mutation	SNP	ENST00000397541.2	37	c.1687C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397862	0.25205	2.66E-4	0.0	ENSG00000214102	ENST00000397541	T	0.57595	0.39	4.59	3.71	0.42584	.	0.700724	0.12953	U	0.425718	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	P	0.40931	0.733	B	0.33799	0.17	T	0.06716	-1.0811	10	0.54805	T	0.06	.	8.663	0.34103	0.0:0.8958:0.0:0.1042	.	563	P0C1S8	WEE2_HUMAN	C	563	ENSP00000380675:R563C	ENSP00000380675:R563C	R	+	1	0	WEE2	141076572	0.000000	0.05858	0.061000	0.19648	0.016000	0.09150	-0.330000	0.07925	1.280000	0.44463	0.655000	0.94253	CGT		0.418	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		53	179	0	0	0	1	0	53	179				
DDX59	83479	broad.mit.edu	37	1	200635067	200635067	+	Missense_Mutation	SNP	C	C	T	rs143810968	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635067C>T	ENST00000331314.6	-	2	1015	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DDX59_ENST00000367348.3_Missense_Mutation_p.E268K|DDX59_ENST00000447706.2_Missense_Mutation_p.E268K	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	268	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACACTTACCTCGAATAAAGCT	0.368																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(802-804)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	47.0	48.0	48.0		802	3.0	0.7	1	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DDX59	NM_001031725.4	56	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	268/620	200635067	4,13002	2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635067C>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.802G>A	1.37:g.200635067C>T	ENSP00000330460:p.Glu268Lys					DDX59_ENST00000367348.3_Missense_Mutation_p.E268K|DDX59_ENST00000331314.6_Missense_Mutation_p.E268K	p.E268K			Q5T1V6	DDX59_HUMAN			2	953	-			268			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.802G>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692739	0.30052	2.27E-4	3.49E-4	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.14766	2.48;2.48;2.48	5.2	2.96	0.34315	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.434790	0.26418	N	0.024483	T	0.05547	0.0146	N	0.05487	-0.04	0.26589	N	0.973232	B;B	0.13145	0.002;0.007	B;B	0.12156	0.004;0.007	T	0.40346	-0.9568	10	0.08599	T	0.76	-24.0557	8.2557	0.31756	0.0:0.6967:0.1491:0.1542	.	268;268	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	K	268	ENSP00000394367:E268K;ENSP00000356317:E268K;ENSP00000330460:E268K	ENSP00000330460:E268K	E	-	1	0	DDX59	198901690	0.577000	0.26708	0.700000	0.30305	0.181000	0.23173	1.146000	0.31589	1.194000	0.43101	0.558000	0.71614	GAG		0.368	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		93	253	0	0	0	1	0	93	253				
ZFHX3	463	broad.mit.edu	37	16	72822708	72822708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822708C>T	ENST00000268489.5	-	10	10139	c.9467G>A	c.(9466-9468)aGc>aAc	p.S3156N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3156					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACAGTTGTGCTGGGCAGACC	0.562																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9466-9468)aGc>aAc		zinc finger homeobox 3							102.0	105.0	104.0					16																	72822708		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822708C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9467G>A	16.37:g.72822708C>T	ENSP00000268489:p.Ser3156Asn					ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N	p.S3156N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10139	-		Ovarian(137;0.13)	3156					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9467G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259301	0.39995	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74737	-0.87;-0.86	5.89	5.89	0.94794	.	0.209166	0.32753	N	0.005690	T	0.64227	0.2579	N	0.19112	0.55	0.52099	D	0.999941	B	0.27559	0.181	B	0.21360	0.034	T	0.60611	-0.7229	10	0.49607	T	0.09	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	3156	Q15911	ZFHX3_HUMAN	N	3156;2242	ENSP00000268489:S3156N;ENSP00000438926:S2242N	ENSP00000268489:S3156N	S	-	2	0	ZFHX3	71380209	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.277000	0.51654	2.788000	0.95919	0.557000	0.71058	AGC		0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		149	807	0	0	0	1	0	149	807				
SRD5A2	6716	broad.mit.edu	37	2	31806019	31806019	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31806019G>A	ENST00000405650.1	-	0	117							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AGAGAGCGCGGCCCCCGCAAC	0.716																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)						3.0	6.0	5.0					2																	31806019		931	1942	2873			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31806019G>A	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31806019G>A										P31213	S5A2_HUMAN			0	117	-	Acute lymphoblastic leukemia(172;0.155)							B2RE87|Q2M1R4|Q9BYE6	RNA	SNP	ENST00000405650.1	37																																																																																						0.716	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	NM_000348		28	94	0	0	0	1	0	28	94				
LMX1A	4009	broad.mit.edu	37	1	165182966	165182966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165182966C>T	ENST00000342310.3	-	5	963	c.581G>A	c.(580-582)cGc>cAc	p.R194H	LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H|RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H|LMX1A_ENST00000489443.2_5'Flank|RP11-38C18.2_ENST00000457106.1_RNA	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	194					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACGTTTGGGGCGCTTATGGTC	0.502																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(580-582)cGc>cAc		LIM homeobox transcription factor 1, alpha							243.0	219.0	227.0					1																	165182966		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165182966C>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.581G>A	1.37:g.165182966C>T	ENSP00000340226:p.Arg194His					LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H|LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H	p.R194H	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			5	963	-	all_hematologic(923;0.248)		194					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.581G>A	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551736	0.96501	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.95949	-3.86;-3.86;-3.86	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	L	0.52011	1.625	0.51482	D	0.999927	D	0.89917	1.0	D	0.87578	0.998	D	0.96037	0.9021	9	0.46703	T	0.11	.	19.3003	0.94141	0.0:1.0:0.0:0.0	.	194	Q8TE12	LMX1A_HUMAN	H	194	ENSP00000340226:R194H;ENSP00000294816:R194H;ENSP00000356868:R194H	ENSP00000294816:R194H	R	-	2	0	LMX1A	163449590	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.284000	0.78650	2.637000	0.89404	0.650000	0.86243	CGC		0.502	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		279	814	0	0	0	1	0	279	814				
NBAS	51594	broad.mit.edu	37	2	15307260	15307260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15307260G>A	ENST00000281513.5	-	52	7053	c.7028C>T	c.(7027-7029)gCc>gTc	p.A2343V	NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2343					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGAGACCCGGCTTCGGCTTC	0.647																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(7027-7029)gCc>gTc		neuroblastoma amplified sequence							38.0	44.0	42.0					2																	15307260		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15307260G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.7028C>T	2.37:g.15307260G>A	ENSP00000281513:p.Ala2343Val					NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	p.A2343V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			52	7053	-			2343					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.7028C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.897598|3.897598	0.72639|0.72639	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283|ENST00000442506	T;T|.	0.35973|.	1.28;1.55|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75354|0.75354	0.3838|0.3838	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.74748|0.74748	-0.3560|-0.3560	10|5	0.87932|.	D|.	0|.	.|.	18.0294|18.0294	0.89278|0.89278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2223;2343|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	2223;2343;156|1391	ENSP00000413201:A2223V;ENSP00000281513:A2343V|.	ENSP00000281513:A2343V|.	A|P	-|-	2|1	0|0	NBAS|NBAS	15224711|15224711	1.000000|1.000000	0.71417|0.71417	0.572000|0.572000	0.28498|0.28498	0.009000|0.009000	0.06853|0.06853	9.190000|9.190000	0.94934|0.94934	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.647	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		82	248	0	0	0	1	0	82	248				
N4BP2L1	90634	broad.mit.edu	37	13	32978376	32978376	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32978376C>T	ENST00000380133.2	-	4	524				N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000530622.2_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000380139.4_Silent_p.R143R			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CCATTTCCAGCCTGAAAAGAT	0.348																																						ENST00000380139.4																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(427-429)agG>agA		NEDD4 binding protein 2-like 1							84.0	84.0	84.0					13																	32978376		2203	4300	6503	SO:0001627	intron_variant	90634				cell killing		ATP binding	g.chr13:32978376C>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.473+81G>A	13.37:g.32978376C>T						N4BP2L1_ENST00000380133.2_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000530622.2_Intron	p.R143R	NM_001079691.1	NP_001073159.1	Q5TBK1	N42L1_HUMAN		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)	4	479	-		Lung SC(185;0.0262)	143					A4QN21|Q5TBK0	Silent	SNP	ENST00000380133.2	37	c.429G>A	CCDS9345.2																																																																																				0.348	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818		24	191	0	0	0	1	0	24	191				
MBTPS1	8720	broad.mit.edu	37	16	84115363	84115363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84115363C>T	ENST00000343411.3	-	11	1932	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	479					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGCCTGTGGCTTGTAGCTGT	0.567																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1435-1437)aaG>aaA		membrane-bound transcription factor peptidase, site 1							88.0	86.0	87.0					16																	84115363		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84115363C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1437G>A	16.37:g.84115363C>T						MBTPS1_ENST00000569770.1_5'UTR	p.K479K	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			11	1932	-			479					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1437G>A	CCDS10941.1																																																																																				0.567	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		81	408	0	0	0	1	0	81	408				
ZNF628	89887	broad.mit.edu	37	19	55995119	55995119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995119G>A	ENST00000598519.1	+	3	3112	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.T849T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	853	4 X approximate tandem repeats.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGTAACCACGGTCCAGCTCC	0.657																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2545-2547)acG>acA		zinc finger protein 628							52.0	59.0	57.0					19																	55995119		2203	4299	6502	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995119G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2559G>A	19.37:g.55995119G>A						ZNF628_ENST00000598519.1_Silent_p.T853T	p.T849T			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3112	+	Breast(117;0.155)		849			4 X approximate tandem repeats.		Q86X34	Silent	SNP	ENST00000598519.1	37	c.2547G>A	CCDS33116.3																																																																																				0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		78	278	0	0	0	1	0	78	278				
CHRDL2	25884	broad.mit.edu	37	11	74424519	74424519	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74424519G>T	ENST00000376332.3	-	3	697	c.201C>A	c.(199-201)gcC>gcA	p.A67A	CHRDL2_ENST00000263671.5_Silent_p.A67A|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	67	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AACTCACATGGGCGCCCTGAA	0.577																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(199-201)gcC>gcA		chordin-like 2							91.0	83.0	86.0					11																	74424519		2200	4293	6493	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74424519G>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.201C>A	11.37:g.74424519G>T						CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.A67A	p.A67A	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			3	697	-	Hepatocellular(1;0.098)		67			VWFC 1.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.201C>A																																																																																					0.577	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			47	194	1	0	6.68952e-21	1	7.51162e-21	47	194				
GNL1	2794	broad.mit.edu	37	6	30514929	30514929	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30514929G>T	ENST00000376621.3	-	10	2371	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	467					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTTCCGCTGAGGGGTCCTCAG	0.637																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1399-1401)ccC>ccA		guanine nucleotide binding protein-like 1							94.0	100.0	98.0					6																	30514929		1511	2708	4219	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30514929G>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1401C>A	6.37:g.30514929G>T							p.P467P	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			10	2371	-			467					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.1401C>A	CCDS4680.1																																																																																				0.637	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			111	520	1	0	9.4957e-49	1	1.17268e-48	111	520				
ATP2C2	9914	broad.mit.edu	37	16	84485577	84485577	+	Missense_Mutation	SNP	C	C	A	rs146513346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84485577C>A	ENST00000262429.4	+	18	1800	c.1711C>A	c.(1711-1713)Ctt>Att	p.L571I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L571I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	571					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTTTCTCGGTCTTGTGGGCAT	0.627																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1711-1713)Ctt>Att		ATPase, Ca++ transporting, type 2C, member 2							85.0	94.0	91.0					16																	84485577		1981	4158	6139	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84485577C>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1711C>A	16.37:g.84485577C>A	ENSP00000262429:p.Leu571Ile					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.L571I	p.L571I			O75185	AT2C2_HUMAN			18	1800	+			571					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1711C>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362537	0.41902	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74526	-0.85;-0.85	4.97	4.02	0.46733	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000013	T	0.77994	0.4214	L	0.45422	1.42	0.49483	D	0.999795	P;B;B;B	0.34934	0.476;0.264;0.421;0.31	P;B;B;B	0.51777	0.679;0.175;0.396;0.268	T	0.77091	-0.2716	10	0.48119	T	0.1	.	12.4434	0.55637	0.0:0.9179:0.0:0.0821	.	571;420;588;571	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	I	571;571;420	ENSP00000397925:L571I;ENSP00000262429:L571I	ENSP00000262429:L571I	L	+	1	0	ATP2C2	83043078	0.998000	0.40836	0.070000	0.20053	0.025000	0.11179	3.669000	0.54561	1.094000	0.41399	0.491000	0.48974	CTT		0.627	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		80	841	1	0	7.81431e-29	1	9.11102e-29	80	841				
ATAD5	79915	broad.mit.edu	37	17	29162657	29162657	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29162657T>G	ENST00000321990.4	+	2	1936	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	520					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAATGAGTTTAAGACAAAG	0.318																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(1558-1560)Tta>Gta		ATPase family, AAA domain containing 5							57.0	66.0	62.0					17																	29162657		2196	4291	6487	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162657T>G		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1558T>G	17.37:g.29162657T>G	ENSP00000313171:p.Leu520Val					CTD-2349P21.11_ENST00000580873.1_RNA	p.L520V	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	1936	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	520					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1558T>G	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	7.925	0.739325	0.15642	.	.	ENSG00000176208	ENST00000321990	T	0.09911	2.93	5.76	4.67	0.58626	.	6.041910	0.00166	N	0.000001	T	0.09949	0.0244	L	0.43923	1.385	0.20975	N	0.999815	B;B	0.31193	0.312;0.108	B;B	0.25884	0.064;0.025	T	0.48091	-0.9065	10	0.02654	T	1	.	7.0325	0.24975	0.0:0.0747:0.2951:0.6302	.	520;520	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	V	520	ENSP00000313171:L520V	ENSP00000313171:L520V	L	+	1	2	ATAD5	26186783	0.816000	0.29132	1.000000	0.80357	0.983000	0.72400	0.313000	0.19415	0.989000	0.38761	0.533000	0.62120	TTA		0.318	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		72	274	0	0	0	1	0	72	274				
MAPRE2	10982	broad.mit.edu	37	18	32720277	32720277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32720277C>T	ENST00000300249.5	+	7	1108	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S	MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000436190.2_Missense_Mutation_p.P298S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	310	DCTN1-binding.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGAAGAGCCGGAAGCAGA	0.602																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(892-894)Ccg>Tcg		microtubule-associated protein, RP/EB family, member 2							79.0	86.0	84.0					18																	32720277		2201	4300	6501	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32720277C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.928C>T	18.37:g.32720277C>T	ENSP00000300249:p.Pro310Ser					MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S	p.P298S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			8	1166	+			310			APC-binding.|DCTN1-binding.|EB1 C-terminal.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.892C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	8.891	0.954079	0.18431	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.42513	1.0;0.97;0.99;0.97	5.42	3.55	0.40652	.	0.426342	0.26143	N	0.026096	T	0.24353	0.0590	N	0.14661	0.345	0.31443	N	0.671777	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.09377	0.001;0.004;0.003	T	0.17018	-1.0383	10	0.09843	T	0.71	-1.0451	14.0384	0.64660	0.0:0.7117:0.2883:0.0	.	298;257;310	E9PHR3;F5H1V8;Q15555	.;.;MARE2_HUMAN	S	267;298;310;257	ENSP00000396074:P267S;ENSP00000407723:P298S;ENSP00000300249:P310S;ENSP00000446343:P257S	ENSP00000300249:P310S	P	+	1	0	MAPRE2	30974275	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.233000	0.51311	0.585000	0.29608	0.563000	0.77884	CCG		0.602	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		19	109	0	0	0	1	0	19	109				
TRABD	80305	broad.mit.edu	37	22	50635949	50635949	+	Silent	SNP	C	C	T	rs139568052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50635949C>T	ENST00000303434.4	+	7	722	c.603C>T	c.(601-603)atC>atT	p.I201I	TRABD_ENST00000380909.4_Silent_p.I201I|TRABD_ENST00000395829.1_Silent_p.I201I|TRABD_ENST00000395827.1_Silent_p.I201I|RP3-402G11.26_ENST00000608025.1_RNA	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	201										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGGGCCATCGCAGCGCTCT	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16451	0.0		0.0	False		,,,				2504	0.0					ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(601-603)atC>atT		TraB domain containing							76.0	74.0	75.0					22																	50635949		2203	4300	6503	SO:0001819	synonymous_variant	80305							g.chr22:50635949C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.603C>T	22.37:g.50635949C>T						TRABD_ENST00000395829.1_Silent_p.I201I|TRABD_ENST00000395827.1_Silent_p.I201I|TRABD_ENST00000380909.4_Silent_p.I201I	p.I201I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	7	722	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	201					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.603C>T	CCDS14086.1																																																																																				0.657	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		91	345	0	0	0	1	0	91	345				
BTBD7	55727	broad.mit.edu	37	14	93712552	93712552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93712552G>A	ENST00000334746.5	-	10	2509	c.2202C>T	c.(2200-2202)cgC>cgT	p.R734R	BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	734					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TACTGTTTACGCGACATCTCC	0.468																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2200-2202)cgC>cgT		BTB (POZ) domain containing 7							123.0	121.0	122.0					14																	93712552		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93712552G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2202C>T	14.37:g.93712552G>A						BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	p.R734R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2509	-		all_cancers(154;0.08)	734					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.2202C>T	CCDS32146.1																																																																																				0.468	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		101	622	0	0	0	1	0	101	622				
PWP1	11137	broad.mit.edu	37	12	108082406	108082406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082406G>A	ENST00000412830.3	+	3	314	c.146G>A	c.(145-147)gGc>gAc	p.G49D	PWP1_ENST00000541166.1_5'UTR	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	49					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAGGTGGTGGCAGTGATGAA	0.488																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(145-147)gGc>gAc		PWP1 homolog (S. cerevisiae)							116.0	117.0	117.0					12																	108082406		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108082406G>A	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.146G>A	12.37:g.108082406G>A	ENSP00000387365:p.Gly49Asp					PWP1_ENST00000541166.1_5'UTR	p.G49D	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			3	314	+			49					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.146G>A	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	7.797	0.712842	0.15306	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000546068;ENST00000538327	T	0.68903	-0.36	5.69	1.58	0.23477	.	0.406630	0.30869	N	0.008716	T	0.29223	0.0727	N	0.03948	-0.315	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	10	0.02654	T	1	.	1.6877	0.02845	0.266:0.1436:0.4437:0.1466	.	49	Q13610	PWP1_HUMAN	D	49	ENSP00000387365:G49D	ENSP00000258531:G49D	G	+	2	0	PWP1	106606536	0.979000	0.34478	1.000000	0.80357	0.699000	0.40488	1.779000	0.38624	0.730000	0.32425	0.478000	0.44815	GGC		0.488	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		67	334	0	0	0	1	0	67	334				
MYO15A	51168	broad.mit.edu	37	17	18029702	18029702	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18029702A>C	ENST00000205890.5	+	5	4136	c.3798A>C	c.(3796-3798)caA>caC	p.Q1266H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1266	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCATACCAAATGTTTGGAA	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3796-3798)caA>caC		myosin XVA							65.0	72.0	70.0					17																	18029702		2060	4199	6259	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18029702A>C	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3798A>C	17.37:g.18029702A>C	ENSP00000205890:p.Gln1266His						p.Q1266H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			5	4136	+	all_neural(463;0.228)		1266			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3798A>C	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078142	0.36662	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	4.76	-4.7	0.03288	Myosin head, motor domain (3);	.	.	.	.	T	0.80502	0.4635	L	0.52573	1.65	0.45979	D	0.998799	P	0.42941	0.794	B	0.42163	0.378	T	0.72880	-0.4158	9	0.66056	D	0.02	.	5.9835	0.19421	0.3199:0.1036:0.4753:0.1012	.	1266	Q9UKN7	MYO15_HUMAN	H	1266	ENSP00000205890:Q1266H	ENSP00000205890:Q1266H	Q	+	3	2	MYO15A	17970427	0.032000	0.19561	0.522000	0.27862	0.602000	0.36980	-0.287000	0.08388	-1.279000	0.02405	-1.288000	0.01363	CAA		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		43	241	0	0	0	1	0	43	241				
ZFP36L2	678	broad.mit.edu	37	2	43453409	43453409	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43453409A>G	ENST00000282388.3	-	1	339	c.46T>C	c.(46-48)Tgc>Cgc	p.C16R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	16					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCTACCTTGCACAAGAAGTCG	0.662																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(46-48)Tgc>Cgc		ZFP36 ring finger protein-like 2							45.0	40.0	42.0					2																	43453409		2190	4291	6481	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43453409A>G	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.46T>C	2.37:g.43453409A>G	ENSP00000282388:p.Cys16Arg					THADA_ENST00000330266.7_Intron	p.C16R	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			1	339	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	16					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.46T>C	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857535	0.51376	.	.	ENSG00000152518	ENST00000282388	T	0.44881	0.91	5.28	5.28	0.74379	Tis11B-like protein, N-terminal (1);	0.082085	0.53938	D	0.000041	T	0.48572	0.1507	L	0.43152	1.355	0.80722	D	1	P	0.48998	0.918	P	0.52267	0.694	T	0.49725	-0.8909	10	0.59425	D	0.04	-9.141	14.8955	0.70642	1.0:0.0:0.0:0.0	.	16	P47974	TISD_HUMAN	R	16	ENSP00000282388:C16R	ENSP00000282388:C16R	C	-	1	0	ZFP36L2	43306913	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.274000	0.72587	1.998000	0.58463	0.533000	0.62120	TGC		0.662	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		4	37	0	0	0	1	0	4	37				
VPS13D	55187	broad.mit.edu	37	1	12309338	12309338	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12309338C>A	ENST00000358136.3	+	6	636	c.506C>A	c.(505-507)cCt>cAt	p.P169H	VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCTCCCATCCTTTTGCTTTT	0.413																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(505-507)cCt>cAt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							178.0	147.0	157.0					1																	12309338		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12309338C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.506C>A	1.37:g.12309338C>A	ENSP00000350854:p.Pro169His					VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	p.P169H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	6	636	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	169						Missense_Mutation	SNP	ENST00000358136.3	37	c.506C>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292486	0.59976	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.60548	0.18;0.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.956	T	0.74034	-0.3794	10	0.62326	D	0.03	.	18.3927	0.90489	0.0:1.0:0.0:0.0	.	169;169	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	H	169	ENSP00000348666:P169H;ENSP00000350854:P169H	ENSP00000348666:P169H	P	+	2	0	VPS13D	12231925	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.227000	0.65305	2.573000	0.86826	0.555000	0.69702	CCT		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		17	213	1	0	1.99824e-07	1	2.07512e-07	17	213				
USP46	64854	broad.mit.edu	37	4	53468125	53468125	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53468125C>T	ENST00000441222.3	-	7	1002	c.818G>A	c.(817-819)cGt>cAt	p.R273H	USP46_ENST00000508499.1_Missense_Mutation_p.R266H|USP46_ENST00000451218.2_Missense_Mutation_p.R246H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	273	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GAAGACCACACGGTAAGACAG	0.532																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(817-819)cGt>cAt		ubiquitin specific peptidase 46							123.0	123.0	123.0					4																	53468125		2095	4228	6323	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53468125C>T	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.818G>A	4.37:g.53468125C>T	ENSP00000407818:p.Arg273His					USP46_ENST00000508499.1_Missense_Mutation_p.R266H|USP46_ENST00000451218.2_Missense_Mutation_p.R246H	p.R273H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		7	1002	-			273					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.818G>A	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628849	0.67015	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32023	1.47;1.47;1.47	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000035	T	0.52354	0.1729	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.75484	0.986;0.971;0.964;0.939	T	0.51663	-0.8677	10	0.59425	D	0.04	-13.6899	18.0298	0.89279	0.0:1.0:0.0:0.0	.	157;261;273;266	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	H	273;246;266	ENSP00000407818:R273H;ENSP00000390102:R246H;ENSP00000423244:R266H	ENSP00000407818:R273H	R	-	2	0	USP46	53162882	1.000000	0.71417	0.937000	0.37676	0.011000	0.07611	7.776000	0.85560	2.559000	0.86315	0.650000	0.86243	CGT		0.532	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		70	243	0	0	0	1	0	70	243				
ATAD3C	219293	broad.mit.edu	37	1	1389854	1389854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1389854C>A	ENST00000378785.2	+	4	1347	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATCACGGTGCTTGAGGCGCT	0.667																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(352-354)Ctt>Att		ATPase family, AAA domain containing 3C							24.0	39.0	35.0					1																	1389854		692	1591	2283	SO:0001583	missense	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1389854C>A	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.352C>A	1.37:g.1389854C>A	ENSP00000368062:p.Leu118Ile						p.L118I	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	1347	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	118					Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	c.352C>A	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437772	0.12104	.	.	ENSG00000215915	ENST00000378785	D	0.94280	-3.39	2.51	1.4	0.22301	.	0.515223	0.20329	N	0.094461	D	0.89259	0.6664	M	0.62723	1.935	0.32744	N	0.50728	B	0.23442	0.085	B	0.18561	0.022	D	0.86832	0.2011	10	0.40728	T	0.16	.	6.6244	0.22820	0.0:0.817:0.0:0.183	.	118	Q5T2N8	ATD3C_HUMAN	I	118	ENSP00000368062:L118I	ENSP00000368062:L118I	L	+	1	0	ATAD3C	1379717	1.000000	0.71417	0.996000	0.52242	0.090000	0.18270	2.244000	0.43124	1.224000	0.43551	0.195000	0.17529	CTT		0.667	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		11	75	1	0	3.86212e-05	1	3.93988e-05	11	75				
MYH11	4629	broad.mit.edu	37	16	15853516	15853516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15853516C>T	ENST00000300036.5	-	12	1427	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	MYH11_ENST00000396324.3_Missense_Mutation_p.V447M|MYH11_ENST00000452625.2_Missense_Mutation_p.V447M|MYH11_ENST00000576790.2_Missense_Mutation_p.V440M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	440	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTTGTTCACGCGGGTGAGT	0.552			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(1318-1320)Gtg>Atg		myosin, heavy chain 11, smooth muscle							118.0	105.0	109.0					16																	15853516		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15853516C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1318G>A	16.37:g.15853516C>T	ENSP00000300036:p.Val440Met					MYH11_ENST00000300036.5_Missense_Mutation_p.V440M|MYH11_ENST00000452625.2_Missense_Mutation_p.V447M|MYH11_ENST00000396324.3_Missense_Mutation_p.V447M|MYH11_ENST00000576790.1_Missense_Mutation_p.V440M	p.V440M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			12	1424	-			440			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1318G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520021	0.64634	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.75	5.75	0.90469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.69078	0.981;0.997;0.997;0.997;0.997;0.981	D;D;D;D;P;P	0.63703	0.917;0.917;0.917;0.917;0.891;0.879	D	0.87710	0.2566	10	0.87932	D	0	.	18.932	0.92570	0.0:1.0:0.0:0.0	.	447;440;440;447;440;447	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	440;440;447;447;447	ENSP00000300036:V440M;ENSP00000345136:V440M;ENSP00000379616:V447M;ENSP00000407821:V447M	ENSP00000300036:V440M	V	-	1	0	MYH11	15761017	0.944000	0.32072	0.966000	0.40874	0.496000	0.33645	2.105000	0.41825	2.706000	0.92434	0.561000	0.74099	GTG		0.552	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		105	455	0	0	0	1	0	105	455				
ACIN1	22985	broad.mit.edu	37	14	23528572	23528572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528572G>A	ENST00000262710.1	-	19	4138	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|CDH24_ENST00000397359.3_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1271	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGTCGGTTCCGTTCCCGCTCG	0.632											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3811-3813)Cgg>Tgg		apoptotic chromatin condensation inducer 1							114.0	91.0	99.0					14																	23528572		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528572G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3811C>T	14.37:g.23528572G>A	ENSP00000262710:p.Arg1271Trp		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W	p.R1271W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4138	-	all_cancers(95;1.36e-05)		1271			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3811C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608797	0.28623	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.14	3.24	0.37175	.	0.000000	0.37393	N	0.002103	T	0.42675	0.1213	N	0.24115	0.695	0.42351	D	0.992378	D;D;D;P;P	0.64830	0.994;0.99;0.975;0.912;0.912	P;B;B;B;B	0.47102	0.537;0.336;0.336;0.082;0.082	T	0.46498	-0.9187	10	0.87932	D	0	-8.9988	10.8207	0.46604	0.0:0.0:0.8102:0.1898	.	1258;1271;1231;544;513	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	512;544;513;1271;1231;513;1258	ENSP00000451138:R512W;ENSP00000345541:R544W;ENSP00000350073:R513W;ENSP00000262710:R1271W;ENSP00000405677:R1231W;ENSP00000380502:R513W;ENSP00000451328:R1258W	ENSP00000262710:R1271W	R	-	1	2	ACIN1	22598412	0.998000	0.40836	1.000000	0.80357	0.207000	0.24258	1.283000	0.33237	1.074000	0.40909	0.563000	0.77884	CGG		0.632	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		48	228	0	0	0	1	0	48	228				
CYSLTR2	57105	broad.mit.edu	37	13	49281382	49281382	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281382C>T	ENST00000282018.3	+	1	432	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	143					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(427-429)ccC>ccT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						206.0	197.0	200.0					13																	49281382		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281382C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.429C>T	13.37:g.49281382C>T							p.P143P	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	432	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	143					Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.429C>T	CCDS9412.1																																																																																				0.478	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			18	668	0	0	0	1	0	18	668				
MAP7	9053	broad.mit.edu	37	6	136704889	136704889	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136704889T>C	ENST00000354570.3	-	6	967	c.557A>G	c.(556-558)aAt>aGt	p.N186S	MAP7_ENST00000432797.2_Missense_Mutation_p.N40S|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S|MAP7_ENST00000438100.2_Intron	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	186					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTTCGAAAGATTCATGGTGGA	0.413																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(556-558)aAt>aGt		microtubule-associated protein 7							119.0	114.0	116.0					6																	136704889		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136704889T>C	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.557A>G	6.37:g.136704889T>C	ENSP00000346581:p.Asn186Ser					MAP7_ENST00000438100.2_Intron|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S|MAP7_ENST00000432797.2_Missense_Mutation_p.N40S	p.N186S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	6	967	-	Colorectal(23;0.24)		186					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.557A>G	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286674	0.59867	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000432797;ENST00000345567	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000008	T	0.17408	0.0418	M	0.67625	2.065	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;1.0;0.999	D;D;D;D;D;D	0.83275	0.991;0.996;0.991;0.985;0.996;0.991	T	0.03863	-1.0997	10	0.22706	T	0.39	-20.3185	16.6438	0.85155	0.0:0.0:0.0:1.0	.	208;171;208;208;92;186	B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244	.;.;.;.;.;MAP7_HUMAN	S	186;208;171;40;92	ENSP00000346581:N186S;ENSP00000414712:N208S;ENSP00000445737:N171S;ENSP00000414879:N40S	ENSP00000344217:N92S	N	-	2	0	MAP7	136746582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.333000	0.79357	0.533000	0.62120	AAT		0.413	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		72	284	0	0	0	1	0	72	284				
ARRB2	409	broad.mit.edu	37	17	4619793	4619793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4619793G>A	ENST00000269260.2	+	5	480	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	83					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCTGTTCATCGCCACCTACCA	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(247-249)Gcc>Acc		arrestin, beta 2							117.0	85.0	96.0					17																	4619793		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619793G>A		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.247G>A	17.37:g.4619793G>A	ENSP00000269260:p.Ala83Thr					ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000574954.1_5'UTR	p.A83T	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	480	+			83					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.247G>A	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659378	0.47467	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.29397	1.57;1.57	4.55	4.55	0.56014	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.188432	0.46145	D	0.000315	T	0.22704	0.0548	L	0.43646	1.37	0.80722	D	1	B;B;B;B;B	0.33528	0.254;0.158;0.303;0.416;0.084	B;B;B;B;B	0.25405	0.06;0.008;0.019;0.033;0.013	T	0.04961	-1.0915	10	0.45353	T	0.12	-15.3958	9.9618	0.41701	0.0:0.0:0.7977:0.2023	.	83;68;83;68;83	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	T	83;83;68;84	ENSP00000269260:A83T;ENSP00000341895:A68T	ENSP00000269260:A83T	A	+	1	0	ARRB2	4566542	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	1.536000	0.36072	2.371000	0.80710	0.563000	0.77884	GCC		0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		79	297	0	0	0	1	0	79	297				
RP11-156P1.2	0	broad.mit.edu	37	17	45126874	45126874	+	IGR	SNP	C	C	T	rs371193522	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45126874C>T	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							TAGGCCAAAACCAGCAAAAAG	0.483																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45126874C>T																													17.37:g.45126874C>T														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.483	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			135	517	0	0	0	1	0	135	517				
TSLP	85480	broad.mit.edu	37	5	110409278	110409278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110409278G>A	ENST00000344895.3	+	3	485	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TSLP_ENST00000379706.4_5'UTR|TSLP_ENST00000420978.2_Missense_Mutation_p.E96K	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	96						extracellular space (GO:0005615)		p.E96*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTCGCCAAAGAAATGTTCGC	0.522																																						ENST00000420978.2																			1	Substitution - Nonsense(1)	p.E96*(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(286-288)Gaa>Aaa		thymic stromal lymphopoietin							143.0	150.0	147.0					5																	110409278		2202	4300	6502	SO:0001583	missense	85480					extracellular space	cytokine activity	g.chr5:110409278G>A	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.286G>A	5.37:g.110409278G>A	ENSP00000339804:p.Glu96Lys					TSLP_ENST00000344895.3_Missense_Mutation_p.E96K|TSLP_ENST00000379706.4_5'UTR	p.E96K			Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	4	1708	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	96					Q8IW99	Missense_Mutation	SNP	ENST00000344895.3	37	c.286G>A	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658779	0.47467	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	4.93	0.0754	0.14399	.	1.399250	0.04838	N	0.440053	T	0.17704	0.0425	N	0.08118	0	0.09310	N	0.999999	B	0.27229	0.172	B	0.29598	0.104	T	0.19778	-1.0295	9	0.15952	T	0.53	-3.4937	3.7658	0.08622	0.3711:0.0:0.4641:0.1647	.	96	Q969D9	TSLP_HUMAN	K	96	.	ENSP00000339804:E96K	E	+	1	0	TSLP	110437177	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.322000	0.19576	-0.099000	0.12263	0.655000	0.94253	GAA		0.522	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		179	791	0	0	0	1	0	179	791				
IL10RB	3588	broad.mit.edu	37	21	34652146	34652146	+	Missense_Mutation	SNP	G	G	A	rs387907326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34652146G>A	ENST00000290200.2	+	4	529	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	AP000295.9_ENST00000433395.2_Silent_p.T268T	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	141	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GAATGAATACGAAACTTGGAC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21711	0.001		0.0	False		,,,				2504	0.0				Melanoma(67;315 1275 21667 21943 44564)	ENST00000290200.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(421-423)Gaa>Aaa		interleukin 10 receptor, beta							202.0	195.0	197.0					21																	34652146		2203	4300	6503	SO:0001583	missense	3588							g.chr21:34652146G>A	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.421G>A	21.37:g.34652146G>A	ENSP00000290200:p.Glu141Lys					AP000295.9_ENST00000433395.2_Silent_p.T268T	p.E141K	NM_000628.4	NP_000619.3					4	529	+								Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.421G>A	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991208	0.35131	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.28454	1.61	5.75	2.9	0.33743	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.717553	0.14025	N	0.346532	T	0.31104	0.0786	M	0.82517	2.595	0.09310	N	1	D;P;D;D	0.56035	0.974;0.946;0.974;0.968	B;B;B;B	0.43701	0.428;0.346;0.428;0.302	T	0.27226	-1.0080	10	0.06757	T	0.87	-5.1489	5.5265	0.16960	0.1686:0.0:0.6735:0.1579	.	143;141;141;141	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	K	141	ENSP00000290200:E141K	ENSP00000290200:E141K	E	+	1	0	IL10RB	33574016	0.003000	0.15002	0.003000	0.11579	0.050000	0.14768	0.371000	0.20450	0.755000	0.32990	0.643000	0.83706	GAA		0.378	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			63	570	0	0	0	1	0	63	570				
RP11-337C18.8	0	broad.mit.edu	37	1	146650411	146650411	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146650411T>G	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							CAGGAAAACATTTTTGGTATC	0.378																																						ENST00000607149.1																			0																																																			0							g.chr1:146650411T>G																													1.37:g.146650411T>G														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.378	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			75	268	0	0	0	1	0	75	268				
ABHD16B	140701	broad.mit.edu	37	20	62493574	62493574	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62493574C>T	ENST00000369916.3	+	1	1009	c.681C>T	c.(679-681)gtC>gtT	p.V227V	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	227							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						ACGTGGTGGTCGAGTACGCAC	0.687																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(679-681)gtC>gtT		abhydrolase domain containing 16B							41.0	35.0	37.0					20																	62493574		2201	4299	6500	SO:0001819	synonymous_variant	140701						hydrolase activity	g.chr20:62493574C>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.681C>T	20.37:g.62493574C>T							p.V227V	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	1009	+			227						Silent	SNP	ENST00000369916.3	37	c.681C>T	CCDS13539.1																																																																																				0.687	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			27	145	0	0	0	1	0	27	145				
COL5A2	1290	broad.mit.edu	37	2	189922062	189922062	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189922062C>A	ENST00000374866.3	-	34	2595	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	774					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCTTGGGGCCAGGAGTTCC	0.443																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2320-2322)gGc>gTc		collagen, type V, alpha 2							57.0	56.0	56.0					2																	189922062		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189922062C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2321G>T	2.37:g.189922062C>A	ENSP00000364000:p.Gly774Val						p.G774V	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		34	2595	-			774					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2321G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045916	0.75846	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99186	-5.53	5.92	5.92	0.95590	.	0.000000	0.52532	D	0.000077	D	0.99588	0.9851	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98080	1.0403	9	.	.	.	.	20.3151	0.98650	0.0:1.0:0.0:0.0	.	414;774	Q5PR22;P05997	.;CO5A2_HUMAN	V	774;414	ENSP00000364000:G774V	.	G	-	2	0	COL5A2	189630307	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC		0.443	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		13	344	1	0	1.61879e-10	1	1.71755e-10	13	344				
PARP14	54625	broad.mit.edu	37	3	122422767	122422767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122422767G>A	ENST00000474629.2	+	7	3526	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1087	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTGGACTGTCGCTATGTGCTT	0.537																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3259-3261)cGc>cAc		poly (ADP-ribose) polymerase family, member 14							147.0	152.0	150.0					3																	122422767		2064	4198	6262	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122422767G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3260G>A	3.37:g.122422767G>A	ENSP00000418194:p.Arg1087His						p.R1087H	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	7	3526	+			1087			Macro 2.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.3260G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292300	0.40594	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.24350	1.86	5.71	-8.83	0.00806	Appr-1-p processing (3);	3.195390	0.00424	N	0.000074	T	0.28067	0.0692	M	0.75884	2.315	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.06405	0.001;0.002	T	0.37197	-0.9716	10	0.49607	T	0.09	.	10.8773	0.46919	0.2551:0.2042:0.5407:0.0	.	1087;1087	Q460N5-4;Q460N5	.;PAR14_HUMAN	H	1087;1006;83	ENSP00000418194:R1087H	ENSP00000381224:R83H	R	+	2	0	PARP14	123905457	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.031000	0.03578	-1.404000	0.02050	-0.793000	0.03317	CGC		0.537	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		109	434	0	0	0	1	0	109	434				
PTCH2	8643	broad.mit.edu	37	1	45292982	45292982	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45292982C>A	ENST00000372192.3	-	16	2502		c.e16-1		PTCH2_ENST00000447098.2_Splice_Site	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2						epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCCTGGATTCCTGGGGGAGAC	0.642									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.e16-1		patched 2							56.0	62.0	60.0					1																	45292982		2203	4300	6503	SO:0001630	splice_region_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45292982C>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2372-1G>T	1.37:g.45292982C>A						PTCH2_ENST00000372192.3_Splice_Site		NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			16	2383	-	Acute lymphoblastic leukemia(166;0.155)							O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Splice_Site	SNP	ENST00000372192.3	37		CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725120	0.48833	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTCH2	45065569	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	5.634000	0.67833	2.402000	0.81655	0.557000	0.71058	.		0.642	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	Intron	103	330	1	0	2.6418e-55	1	3.30104e-55	103	330				
DIAPH1	1729	broad.mit.edu	37	5	140913993	140913993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140913993C>A	ENST00000398557.4	-	19	2630	c.2490G>T	c.(2488-2490)aaG>aaT	p.K830N	DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K827N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K831N|DIAPH1_ENST00000494967.1_5'UTR	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	830	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTGATCCTTCTTGGCTA	0.413																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2491-2493)aaG>aaT		diaphanous-related formin 1							139.0	126.0	130.0					5																	140913993		1818	4090	5908	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140913993C>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2490G>T	5.37:g.140913993C>A	ENSP00000381565:p.Lys830Asn					DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N|DIAPH1_ENST00000398557.4_Missense_Mutation_p.K830N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K827N|DIAPH1_ENST00000494967.1_5'UTR	p.K831N			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	2633	-			830			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.2493G>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	39	7.439464	0.98286	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;D;T;D;T	0.83506	2.24;2.24;2.24;-0.15;-1.73;-0.15;-1.73;2.24	5.62	1.85	0.25348	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.056142	0.64402	D	0.000002	D	0.88607	0.6482	M	0.78916	2.43	0.51482	D	0.999924	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.958;0.958	D	0.85853	0.1405	10	0.45353	T	0.12	.	8.7768	0.34767	0.0:0.5452:0.0:0.4547	.	773;821;830	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	N	827;773;806;821;822;830;831;818;269	ENSP00000373706:K827N;ENSP00000429282:K773N;ENSP00000381570:K806N;ENSP00000373709:K821N;ENSP00000381572:K822N;ENSP00000381565:K830N;ENSP00000253811:K831N;ENSP00000428268:K818N	ENSP00000253811:K831N	K	-	3	2	DIAPH1	140894177	0.955000	0.32602	1.000000	0.80357	0.975000	0.68041	-0.030000	0.12308	0.321000	0.23259	-0.145000	0.13849	AAG		0.413	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		58	254	1	0	1.14385e-22	1	1.29604e-22	58	254				
ACKR2	1238	broad.mit.edu	37	3	42906716	42906716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42906716G>T	ENST00000422265.1	+	3	897	c.722G>T	c.(721-723)aGg>aTg	p.R241M	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.R241M|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.R241M	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	241					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GTGAGGCTGAGGCCCGCAGGC	0.537																																						ENST00000422265.1																			0											c.(721-723)aGg>aTg		atypical chemokine receptor 2							113.0	114.0	114.0					3																	42906716		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906716G>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.722G>T	3.37:g.42906716G>T	ENSP00000416996:p.Arg241Met					CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R241M|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.R241M	p.R241M	NM_001296.4	NP_001287.2					3	897	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.722G>T	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077645	0.36662	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.40476	1.03;1.03;1.03	4.49	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.353818	0.19894	N	0.103664	T	0.56978	0.2022	M	0.82630	2.6	0.09310	N	0.999997	D	0.57571	0.98	P	0.58780	0.845	T	0.49513	-0.8932	9	.	.	.	.	7.5575	0.27833	0.2964:0.0:0.7036:0.0	.	241	O00590	CCBP2_HUMAN	M	241	ENSP00000396150:R241M;ENSP00000416996:R241M;ENSP00000273145:R241M	.	R	+	2	0	CCBP2	42881720	0.001000	0.12720	0.988000	0.46212	0.545000	0.35147	-0.247000	0.08866	0.134000	0.18681	0.563000	0.77884	AGG		0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		150	786	1	0	2.38067e-61	1	2.9972e-61	150	786				
PLIN4	729359	broad.mit.edu	37	19	4510724	4510724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510724C>A	ENST00000301286.3	-	3	3205	c.3206G>T	c.(3205-3207)aGc>aTc	p.S1069I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1069						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTCTTGGGGGCTCAGGGCAGT	0.642																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(3205-3207)aGc>aTc		perilipin 4							30.0	36.0	34.0					19																	4510724		2069	4199	6268	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4510724C>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3206G>T	19.37:g.4510724C>A	ENSP00000301286:p.Ser1069Ile						p.S1069I	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	3205	-			1069					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.3206G>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242739	0.22796	.	.	ENSG00000167676	ENST00000301286	T	0.03689	3.84	2.87	-5.75	0.02384	.	3.138250	0.01171	U	0.006873	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	P	0.35656	0.514	B	0.31016	0.123	T	0.33214	-0.9877	10	0.40728	T	0.16	-0.9643	1.0287	0.01533	0.145:0.1954:0.3066:0.353	.	1069	Q96Q06	PLIN4_HUMAN	I	1069	ENSP00000301286:S1069I	ENSP00000301286:S1069I	S	-	2	0	PLIN4	4461724	.	.	0.000000	0.03702	0.108000	0.19459	.	.	-1.121000	0.02949	0.424000	0.28305	AGC		0.642	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		13	191	1	0	0.00010058	1	0.000102273	13	191				
KIAA0586	9786	broad.mit.edu	37	14	58949251	58949251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58949251G>A	ENST00000556134.1	+	22	3194	c.2920G>A	c.(2920-2922)Gcc>Acc	p.A974T	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A945T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	974					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCAGTGGCGCCCTCCAGCT	0.368																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2833-2835)Gcc>Acc		KIAA0586							48.0	46.0	47.0					14																	58949251		1850	4102	5952	SO:0001583	missense	9786							g.chr14:58949251G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2920G>A	14.37:g.58949251G>A	ENSP00000452351:p.Ala974Thr					KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.A974T|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T	p.A945T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			22	3091	+			913					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.2833G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643865	0.29246	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.9	1.72	0.24424	.	0.835333	0.10542	N	0.662544	T	0.38878	0.1057	M	0.72479	2.2	0.09310	N	1	B;B;B;B;B;B	0.32203	0.066;0.066;0.017;0.004;0.116;0.36	B;B;B;B;B;B	0.17722	0.007;0.013;0.003;0.002;0.013;0.019	T	0.16305	-1.0407	10	0.40728	T	0.16	.	11.0398	0.47825	0.272:0.0:0.728:0.0	.	849;849;1042;913;974;945	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	T	1042;974;945;913;849	ENSP00000346359:A1042T;ENSP00000452351:A974T;ENSP00000399427:A945T;ENSP00000261244:A913T	ENSP00000261244:A913T	A	+	1	0	KIAA0586	58019004	1.000000	0.71417	0.016000	0.15963	0.200000	0.23975	2.792000	0.47837	0.323000	0.23307	-0.792000	0.03331	GCC		0.368	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		26	120	0	0	0	1	0	26	120				
DOCK4	9732	broad.mit.edu	37	7	111617186	111617186	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111617186C>T	ENST00000437633.1	-	8	958		c.e8+1		DOCK4_ENST00000428084.1_Splice_Site|DOCK4_ENST00000476846.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGTGCAGGTACCTGATTGGCC	0.423																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.e8+1		dedicator of cytokinesis 4							77.0	72.0	74.0					7																	111617186		1937	4131	6068	SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111617186C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.701+1G>A	7.37:g.111617186C>T						DOCK4_ENST00000437633.1_Splice_Site|DOCK4_ENST00000476846.1_Splice_Site				Q8N1I0	DOCK4_HUMAN			8	974	-		Acute lymphoblastic leukemia(1;0.0441)						O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37		CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533283	0.85812	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000544250	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111404422	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.463000	0.80869	2.527000	0.85204	0.563000	0.77884	.		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Intron	14	72	0	0	0	1	0	14	72				
DAAM1	23002	broad.mit.edu	37	14	59730276	59730276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59730276G>A	ENST00000395125.1	+	1	104	c.81G>A	c.(79-81)acG>acA	p.T27T	DAAM1_ENST00000556135.1_Silent_p.T27T|DAAM1_ENST00000351081.1_Silent_p.T27T|DAAM1_ENST00000360909.3_Silent_p.T27T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	27					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAAATCACGTATCGGCTGC	0.473																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(79-81)acG>acA		dishevelled associated activator of morphogenesis 1							143.0	127.0	133.0					14																	59730276		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59730276G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.81G>A	14.37:g.59730276G>A						DAAM1_ENST00000351081.1_Silent_p.T27T|DAAM1_ENST00000556135.1_Silent_p.T27T|DAAM1_ENST00000360909.3_Silent_p.T27T	p.T27T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	1	104	+			27					Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.81G>A	CCDS9737.1																																																																																				0.473	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		97	419	0	0	0	1	0	97	419				
ASGR1	432	broad.mit.edu	37	17	7080161	7080161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7080161C>T	ENST00000269299.3	-	5	742	c.343G>A	c.(343-345)Gac>Aac	p.D115N	ASGR1_ENST00000572879.1_Intron|ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N|ASGR1_ENST00000574388.1_Missense_Mutation_p.D76N	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	115					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCACTCAGGTCCTTCTGCTGT	0.547																																						ENST00000574388.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						c.(226-228)Gac>Aac		asialoglycoprotein receptor 1							207.0	174.0	185.0					17																	7080161		2203	4300	6503	SO:0001583	missense	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7080161C>T		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.343G>A	17.37:g.7080161C>T	ENSP00000269299:p.Asp115Asn					ASGR1_ENST00000269299.3_Missense_Mutation_p.D115N|ASGR1_ENST00000572879.1_Intron|ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N	p.D76N			P07306	ASGR1_HUMAN			3	1018	-			115					I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	c.226G>A	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760776	0.31137	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T;T	0.43294	1.0;0.95	4.89	1.23	0.21249	Hepatic lectin, N-terminal (1);	0.961393	0.08593	N	0.922639	T	0.35770	0.0943	M	0.62723	1.935	0.20196	N	0.99993	B	0.31625	0.332	B	0.27380	0.079	T	0.37033	-0.9723	10	0.66056	D	0.02	.	3.4939	0.07648	0.2051:0.544:0.0:0.2508	.	115	P07306	ASGR1_HUMAN	N	115;76	ENSP00000269299:D115N;ENSP00000370307:D76N	ENSP00000269299:D115N	D	-	1	0	ASGR1	7020885	0.237000	0.23815	0.075000	0.20258	0.470000	0.32858	0.841000	0.27613	0.167000	0.19631	0.462000	0.41574	GAC		0.547	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		27	487	0	0	0	1	0	27	487				
MYO1A	4640	broad.mit.edu	37	12	57432600	57432600	+	Missense_Mutation	SNP	G	G	A	rs141039063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57432600G>A	ENST00000442789.2	-	17	1813	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	509	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CACCTTGCCCGCATAGTGGCA	0.577																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1525-1527)gCg>gTg		myosin IA		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	55.0	52.0	53.0		1526	4.6	1.0	12	dbSNP_134	53	0,8600		0,0,4300	no	missense	MYO1A	NM_005379.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	509/1044	57432600	1,13005	2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57432600G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1526C>T	12.37:g.57432600G>A	ENSP00000393392:p.Ala509Val					MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000476795.1_5'UTR	p.A509V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			17	1813	-			509			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1526C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972551	0.92919	2.27E-4	0.0	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93426	-3.22;-3.22;-3.22	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	15.2089	0.73202	0.0:0.0:1.0:0.0	.	509	Q9UBC5	MYO1A_HUMAN	V	509;509;347	ENSP00000300119:A509V;ENSP00000393392:A509V;ENSP00000440514:A347V	ENSP00000300119:A509V	A	-	2	0	MYO1A	55718867	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.657000	0.98554	2.542000	0.85734	0.555000	0.69702	GCG		0.577	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		40	194	0	0	0	1	0	40	194				
BLNK	29760	broad.mit.edu	37	10	97967627	97967627	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97967627C>T	ENST00000224337.5	-	10	916		c.e10+1		BLNK_ENST00000413476.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000427367.2_Splice_Site	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker						B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATTAACTTACTGTCTTCAGT	0.328																																						ENST00000224337.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14						c.e10+1		B-cell linker							119.0	116.0	117.0					10																	97967627		2203	4300	6503	SO:0001630	splice_region_variant	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97967627C>T	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.774+1G>A	10.37:g.97967627C>T						BLNK_ENST00000413476.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000427367.2_Splice_Site		NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	10	916	-		Colorectal(252;0.083)						O75498|O75499|Q2MD49	Splice_Site	SNP	ENST00000224337.5	37		CCDS7446.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743713	0.69418	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4791	0.75511	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BLNK	97957617	0.998000	0.40836	0.973000	0.42090	0.936000	0.57629	3.494000	0.53273	2.809000	0.96659	0.655000	0.94253	.		0.328	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314	Intron	63	279	0	0	0	1	0	63	279				
MAP1LC3C	440738	broad.mit.edu	37	1	242159659	242159659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242159659C>T	ENST00000357246.3	-	4	314	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	84					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGTAAAAGGCTTCCGTGGCT	0.567																																						ENST00000357246.3																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13						c.(250-252)Gcc>Acc		microtubule-associated protein 1 light chain 3 gamma							150.0	132.0	139.0					1																	242159659		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159659C>T	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.250G>A	1.37:g.242159659C>T	ENSP00000349785:p.Ala84Thr						p.A84T	NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	314	-			84					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.250G>A	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928828	0.73327	.	.	ENSG00000197769	ENST00000357246	T	0.59502	0.26	4.18	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.80982	2.52	0.53688	D	0.999971	B	0.30727	0.292	P	0.51516	0.672	T	0.77000	-0.2750	10	0.87932	D	0	.	13.1202	0.59321	0.1611:0.8389:0.0:0.0	.	84	Q9BXW4	MLP3C_HUMAN	T	84	ENSP00000349785:A84T	ENSP00000349785:A84T	A	-	1	0	MAP1LC3C	240226282	1.000000	0.71417	0.948000	0.38648	0.443000	0.32047	5.100000	0.64560	0.956000	0.37904	0.643000	0.83706	GCC		0.567	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		95	341	0	0	0	1	0	95	341				
PLEKHH2	130271	broad.mit.edu	37	2	43924345	43924345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43924345C>A	ENST00000282406.4	+	7	648	c.538C>A	c.(538-540)Cta>Ata	p.L180I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	180					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCTCTACACTAAAGCTTTC	0.383																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(538-540)Cta>Ata		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							135.0	137.0	137.0					2																	43924345		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43924345C>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.538C>A	2.37:g.43924345C>A	ENSP00000282406:p.Leu180Ile						p.L180I	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			7	648	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	180					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.538C>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247779	0.10130	.	.	ENSG00000152527	ENST00000282406	T	0.52057	0.68	5.04	1.11	0.20524	.	0.772541	0.12600	N	0.454790	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.18871	0.0;0.023	T	0.22521	-1.0214	10	0.18276	T	0.48	0.731	4.2415	0.10650	0.1307:0.6025:0.1261:0.1407	.	180;180	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	I	180	ENSP00000282406:L180I	ENSP00000282406:L180I	L	+	1	2	PLEKHH2	43777849	0.034000	0.19679	0.001000	0.08648	0.697000	0.40408	2.367000	0.44213	-0.083000	0.12618	-0.312000	0.09012	CTA		0.383	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		64	640	1	0	2.73218e-42	1	3.32585e-42	64	640				
GUSBP11	91316	broad.mit.edu	37	22	23980923	23980923	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23980923C>T	ENST00000455485.1	-	0	3566				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GCTCAGGTAGCTGCTGGCCAC	0.587																																						ENST00000390329.2																			0																																																			0							g.chr22:23980923C>T			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23980923C>T						AP000347.4_ENST00000430707.2_RNA								0	191	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.587	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			56	231	0	0	0	1	0	56	231				
TBC1D10B	26000	broad.mit.edu	37	16	30370680	30370680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30370680C>A	ENST00000409939.3	-	7	1535	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	485	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCTGAATGGCCTCCTGCAGGT	0.667																																						ENST00000409939.3																			0				endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(1453-1455)gaG>gaT		TBC1 domain family, member 10B							12.0	12.0	12.0					16																	30370680		2186	4255	6441	SO:0001583	missense	26000					cytoplasm	Rab GTPase activator activity	g.chr16:30370680C>A	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1455G>T	16.37:g.30370680C>A	ENSP00000386538:p.Glu485Asp						p.E485D	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)		7	1535	-			485			Rab-GAP TBC.		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	c.1455G>T	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342328	0.41498	.	.	ENSG00000169221	ENST00000409939	T	0.12147	2.71	5.31	2.27	0.28462	Rab-GAP/TBC domain (5);	0.000000	0.64402	D	0.000001	T	0.25901	0.0631	M	0.76433	2.335	0.50632	D	0.999888	P	0.50710	0.938	P	0.54664	0.758	T	0.00904	-1.1520	10	0.59425	D	0.04	.	7.8216	0.29290	0.0:0.5928:0.0:0.4072	.	485	Q4KMP7	TB10B_HUMAN	D	485	ENSP00000386538:E485D	ENSP00000386538:E485D	E	-	3	2	TBC1D10B	30278181	0.993000	0.37304	1.000000	0.80357	0.541000	0.35023	0.420000	0.21263	0.243000	0.21327	0.462000	0.41574	GAG		0.667	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		11	32	1	0	0.00829132	1	0.00834067	11	32				
C2orf16	84226	broad.mit.edu	37	2	27801881	27801881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801881G>T	ENST00000408964.2	+	1	2493	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	814						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATGTCCTGAGATTCTAGGAG	0.398																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(2440-2442)gaG>gaT		chromosome 2 open reading frame 16							186.0	182.0	183.0					2																	27801881		1866	4098	5964	SO:0001583	missense	84226							g.chr2:27801881G>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2442G>T	2.37:g.27801881G>T	ENSP00000386190:p.Glu814Asp						p.E814D	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	2493	+	Acute lymphoblastic leukemia(172;0.155)		814					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2442G>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538403	0.45176	.	.	ENSG00000221843	ENST00000408964	T	0.09630	2.96	5.14	2.19	0.27852	.	.	.	.	.	T	0.16769	0.0403	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.10132	-1.0643	9	0.87932	D	0	.	5.7705	0.18251	0.1875:0.1622:0.6503:0.0	.	814	Q68DN1	CB016_HUMAN	D	814	ENSP00000386190:E814D	ENSP00000386190:E814D	E	+	3	2	C2orf16	27655385	0.137000	0.22531	0.546000	0.28166	0.510000	0.34073	0.660000	0.25009	0.685000	0.31468	0.313000	0.20887	GAG		0.398	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		43	1114	1	0	2.47316e-13	1	2.66891e-13	43	1114				
SNAPC4	6621	broad.mit.edu	37	9	139286432	139286432	+	Missense_Mutation	SNP	C	C	T	rs372524659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139286432C>T	ENST00000298532.2	-	9	1305	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(937-939)Ggc>Agc		small nuclear RNA activating complex, polypeptide 4, 190kDa		C	SER/GLY	0,4406		0,0,2203	58.0	57.0	57.0		937	4.3	1.0	9		57	1,8597	1.2+/-3.3	0,1,4298	no	missense	SNAPC4	NM_003086.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	313/1470	139286432	1,13003	2203	4299	6502	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139286432C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.937G>A	9.37:g.139286432C>T	ENSP00000298532:p.Gly313Ser						p.G313S	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	9	1305	-		Myeloproliferative disorder(178;0.0511)	313			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.937G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241696	0.39598	0.0	1.16E-4	ENSG00000165684	ENST00000298532	T	0.27890	1.64	5.35	4.34	0.51931	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.468654	0.24710	N	0.036231	T	0.30262	0.0759	M	0.69185	2.1	0.26832	N	0.968556	D	0.55172	0.97	B	0.42738	0.396	T	0.40515	-0.9559	10	0.59425	D	0.04	-39.7908	6.6974	0.23207	0.0:0.726:0.0:0.274	.	313	Q5SXM2	SNPC4_HUMAN	S	313	ENSP00000298532:G313S	ENSP00000298532:G313S	G	-	1	0	SNAPC4	138406253	0.065000	0.20965	0.954000	0.39281	0.337000	0.28794	0.614000	0.24314	2.507000	0.84556	0.655000	0.94253	GGC		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		54	360	0	0	0	1	0	54	360				
DLGAP3	58512	broad.mit.edu	37	1	35370403	35370403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35370403G>T	ENST00000373347.1	-	3	850	c.582C>A	c.(580-582)gaC>gaA	p.D194E	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	194					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCCATTATAGTCCCGCTTCC	0.647																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(580-582)gaC>gaA		discs, large (Drosophila) homolog-associated protein 3							26.0	28.0	27.0					1																	35370403		2203	4297	6500	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370403G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.582C>A	1.37:g.35370403G>T	ENSP00000362444:p.Asp194Glu					DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E	p.D194E			O95886	DLGP3_HUMAN			3	850	-		Myeloproliferative disorder(586;0.0393)	194					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.582C>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	5.093	0.202863	0.09704	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.23552	1.9;1.9	4.47	2.29	0.28610	.	0.126216	0.53938	D	0.000043	T	0.11793	0.0287	N	0.11927	0.2	0.31210	N	0.698711	B	0.13594	0.008	B	0.10450	0.005	T	0.12811	-1.0533	10	0.23891	T	0.37	-12.827	6.8141	0.23820	0.1842:0.3212:0.4945:0.0	.	194	O95886	DLGP3_HUMAN	E	194	ENSP00000362444:D194E;ENSP00000235180:D194E	ENSP00000235180:D194E	D	-	3	2	DLGAP3	35142990	0.948000	0.32251	1.000000	0.80357	0.957000	0.61999	0.087000	0.14958	0.959000	0.37980	0.448000	0.29417	GAC		0.647	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		26	277	1	0	3.65163e-15	1	3.98403e-15	26	277				
SMPDL3A	10924	broad.mit.edu	37	6	123127404	123127404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123127404G>A	ENST00000368440.4	+	7	1123	c.946G>A	c.(946-948)Gct>Act	p.A316T	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	316					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTTGTTTGTGGCTCCTGCTGT	0.318																																						ENST00000368440.4																			0				breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(946-948)Gct>Act		sphingomyelin phosphodiesterase, acid-like 3A							111.0	110.0	110.0					6																	123127404		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123127404G>A	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.946G>A	6.37:g.123127404G>A	ENSP00000357425:p.Ala316Thr					SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	p.A316T	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	7	1123	+			316					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.946G>A	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	5.830	0.337335	0.11013	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.86865	-2.18;-2.18	5.76	4.87	0.63330	.	0.299636	0.38663	N	0.001612	T	0.66056	0.2751	L	0.28192	0.835	0.47994	D	0.999561	B	0.22080	0.064	B	0.15870	0.014	T	0.64980	-0.6279	10	0.30854	T	0.27	-13.8831	9.4081	0.38473	0.0719:0.0:0.7831:0.1449	.	316	Q92484	ASM3A_HUMAN	T	316;185	ENSP00000357425:A316T;ENSP00000442152:A185T	ENSP00000357425:A316T	A	+	1	0	SMPDL3A	123169103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	1.533000	0.49186	0.655000	0.94253	GCT		0.318	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		35	215	0	0	0	1	0	35	215				
CDC42BPB	9578	broad.mit.edu	37	14	103404690	103404690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103404690C>T	ENST00000361246.2	-	35	5174	c.4886G>A	c.(4885-4887)cGc>cAc	p.R1629H	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGAGGCTGGCGAGCCAGGTT	0.662																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4885-4887)cGc>cAc		CDC42 binding protein kinase beta (DMPK-like)							60.0	70.0	67.0					14																	103404690		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103404690C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4886G>A	14.37:g.103404690C>T	ENSP00000355237:p.Arg1629His						p.R1629H	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	35	5174	-		Melanoma(154;0.155)	1629						Missense_Mutation	SNP	ENST00000361246.2	37	c.4886G>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225273	0.39300	.	.	ENSG00000198752	ENST00000361246	T	0.65364	-0.15	4.89	4.89	0.63831	.	0.195819	0.45361	D	0.000368	T	0.65471	0.2694	L	0.59436	1.845	0.58432	D	0.999993	D	0.67145	0.996	P	0.48270	0.572	T	0.65129	-0.6243	10	0.29301	T	0.29	.	18.0522	0.89353	0.0:1.0:0.0:0.0	.	1629	Q9Y5S2	MRCKB_HUMAN	H	1629	ENSP00000355237:R1629H	ENSP00000355237:R1629H	R	-	2	0	CDC42BPB	102474443	1.000000	0.71417	0.970000	0.41538	0.148000	0.21650	6.221000	0.72243	2.251000	0.74343	0.561000	0.74099	CGC		0.662	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		21	662	0	0	0	1	0	21	662				
MUC6	4588	broad.mit.edu	37	11	1028027	1028027	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028027G>T	ENST00000421673.2	-	15	1836	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	596	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGTCCTCAGCAGCATGGAG	0.667																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1786-1788)Ctg>Atg		mucin 6, oligomeric mucus/gel-forming							25.0	29.0	28.0					11																	1028027		2127	4240	6367	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028027G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1786C>A	11.37:g.1028027G>T	ENSP00000406861:p.Leu596Met						p.L596M	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	15	1836	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	596			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1786C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.560	0.471627	0.12461	.	.	ENSG00000184956	ENST00000421673	T	0.79141	-1.24	4.93	-0.193	0.13244	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	1.093900	0.07414	U	0.892955	T	0.63295	0.2499	N	0.20610	0.595	0.09310	N	1	B	0.24186	0.099	B	0.24848	0.056	T	0.51865	-0.8651	10	0.38643	T	0.18	.	8.676	0.34179	0.0:0.2892:0.5617:0.1491	.	596	Q6W4X9	MUC6_HUMAN	M	596	ENSP00000406861:L596M	ENSP00000406861:L596M	L	-	1	2	MUC6	1018027	0.000000	0.05858	0.876000	0.34364	0.019000	0.09904	-0.459000	0.06728	0.229000	0.21039	-0.325000	0.08501	CTG		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		7	42	1	0	2.0095e-06	1	2.07161e-06	7	42				
ANKRD50	57182	broad.mit.edu	37	4	125590747	125590747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125590747G>A	ENST00000504087.1	-	4	4722	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1229	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTGACTGTCGACTTCTACTG	0.413																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3685-3687)Cga>Tga		ankyrin repeat domain 50							204.0	196.0	199.0					4																	125590747		2203	4300	6503	SO:0001587	stop_gained	57182							g.chr4:125590747G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3685C>T	4.37:g.125590747G>A	ENSP00000425658:p.Arg1229*					ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	p.R1229*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4722	-			1229			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	ENST00000504087.1	37	c.3685C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	49	15.225748	0.99827	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.36	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0537	0.58967	0.0:0.0:0.609:0.391	.	.	.	.	X	1229;1050	.	ENSP00000425658:R1229X	R	-	1	2	ANKRD50	125810197	1.000000	0.71417	0.961000	0.40146	0.955000	0.61496	2.587000	0.46128	1.436000	0.47453	0.561000	0.74099	CGA		0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		225	956	0	0	0	1	0	225	956				
HAUS5	23354	broad.mit.edu	37	19	36109545	36109545	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109545G>A	ENST00000203166.5	+	12	985	c.960G>A	c.(958-960)caG>caA	p.Q320Q	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	320					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCTTGACCCAGCGCCTCCAGG	0.647																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(958-960)caG>caA		HAUS augmin-like complex, subunit 5							54.0	60.0	58.0					19																	36109545		1995	4148	6143	SO:0001819	synonymous_variant	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36109545G>A	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.960G>A	19.37:g.36109545G>A						HAUS5_ENST00000379045.2_3'UTR	p.Q320Q	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			12	985	+			320					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	37	c.960G>A	CCDS42550.1																																																																																				0.647	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			69	321	0	0	0	1	0	69	321				
CDC73	79577	broad.mit.edu	37	1	193104572	193104572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193104572G>A	ENST00000367435.3	+	4	543	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	MIR1278_ENST00000408753.1_RNA	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	120					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GGTCTTCAGCGATCTACTCAA	0.338																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(358-360)cGa>cAa		cell division cycle 73							100.0	95.0	97.0					1																	193104572		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193104572G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.359G>A	1.37:g.193104572G>A	ENSP00000356405:p.Arg120Gln						p.R120Q	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			4	543	+			120					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.359G>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679579	0.68042	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.84730	-1.89	5.7	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.76076	0.3937	L	0.43152	1.355	0.54753	D	0.999987	P	0.50443	0.935	B	0.34722	0.188	T	0.74343	-0.3696	10	0.18276	T	0.48	-10.1528	14.6786	0.69001	0.0697:0.0:0.9303:0.0	.	120	Q6P1J9	CDC73_HUMAN	Q	120	ENSP00000356405:R120Q	ENSP00000356405:R120Q	R	+	2	0	CDC73	191371195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.406000	0.46857	0.650000	0.86243	CGA		0.338	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		103	293	0	0	0	1	0	103	293				
GOLGA2	2801	broad.mit.edu	37	9	131022956	131022956	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131022956C>A	ENST00000421699.2	-	17	1477	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.D477Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	489					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.D477N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCATTGTCTTGCACCTGG	0.682																																						ENST00000421699.2																			1	Substitution - Missense(1)	p.D477N(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1465-1467)Gac>Tac		golgin A2							39.0	44.0	42.0					9																	131022956		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131022956C>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1465G>T	9.37:g.131022956C>A	ENSP00000416097:p.Asp489Tyr						p.D489Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			17	1477	-			489					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1465G>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	22.0	4.225784	0.79576	.	.	ENSG00000167110	ENST00000421699	T	0.32272	1.46	5.3	4.41	0.53225	.	0.097640	0.64402	D	0.000002	T	0.52677	0.1749	M	0.66506	2.035	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.56469	-0.7974	10	0.72032	D	0.01	.	13.5747	0.61866	0.0:0.9252:0.0:0.0748	.	489	Q08379	GOGA2_HUMAN	Y	489	ENSP00000416097:D489Y	ENSP00000416097:D489Y	D	-	1	0	GOLGA2	130062777	1.000000	0.71417	0.162000	0.22713	0.972000	0.66771	5.748000	0.68697	1.238000	0.43771	0.305000	0.20034	GAC		0.682	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		113	429	1	0	1.22879e-52	1	1.5289e-52	113	429				
FAM110B	90362	broad.mit.edu	37	8	59059135	59059135	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59059135C>T	ENST00000361488.3	+	5	1226	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	116						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L116M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGGGAGAACCTGAAGCTGGA	0.662																																						ENST00000361488.3																			1	Substitution - Missense(1)	p.L116M(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(346-348)Ctg>Ttg		family with sequence similarity 110, member B							37.0	38.0	37.0					8																	59059135		2203	4300	6503	SO:0001819	synonymous_variant	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059135C>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.346C>T	8.37:g.59059135C>T						FAM110B_ENST00000520369.1_Intron	p.L116L	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1226	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	116					Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	37	c.346C>T	CCDS6170.1																																																																																				0.662	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		33	174	0	0	0	1	0	33	174				
CDHR2	54825	broad.mit.edu	37	5	176004439	176004439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004439G>A	ENST00000510636.1	+	13	1508	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGGGGCCCCGATGCAGAAGC	0.647																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1234-1236)Gat>Aat		cadherin-related family member 2							24.0	28.0	27.0					5																	176004439		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004439G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1234G>A	5.37:g.176004439G>A	ENSP00000424565:p.Asp412Asn					CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N|CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N	p.D412N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			13	1508	+			412			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1234G>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202505	0.38905	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61392	0.11;0.11;0.11	4.16	3.28	0.37604	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44307	0.1287	L	0.37750	1.13	0.09310	N	0.999999	D	0.53745	0.962	B	0.41510	0.359	T	0.18178	-1.0345	9	0.31617	T	0.26	-10.8328	8.1509	0.31141	0.2085:0.0:0.7914:0.0	.	412	Q9BYE9	CDHR2_HUMAN	N	412	ENSP00000424565:D412N;ENSP00000261944:D412N;ENSP00000421078:D412N	ENSP00000261944:D412N	D	+	1	0	CDHR2	175937045	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	0.006000	0.13152	1.094000	0.41399	0.448000	0.29417	GAT		0.647	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		7	93	0	0	0	1	0	7	93				
PSMC5	5705	broad.mit.edu	37	17	61903629	61903629	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61903629C>A	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Missense_Mutation_p.S70I|PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CACAATAAGGCTGGATACAGG	0.453																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(208-210)aGc>aTc		FtsJ homolog 3 (E. coli)							197.0	212.0	207.0					17																	61903629		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61903629C>A	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903629C>A	Exception_encountered						p.S70I	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			4	854	-			70					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.209G>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890826	0.52014	.	.	ENSG00000108592	ENST00000427159	T	0.43294	0.95	5.04	5.04	0.67666	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67401	-0.5680	10	0.87932	D	0	-12.0766	15.9181	0.79539	0.0:1.0:0.0:0.0	.	70	Q8IY81	RRMJ3_HUMAN	I	70	ENSP00000396673:S70I	ENSP00000396673:S70I	S	-	2	0	FTSJ3	59257361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.815000	0.75242	2.618000	0.88619	0.561000	0.74099	AGC		0.453	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		230	990	1	0	1.65695e-73	1	2.10936e-73	230	990				
DTX3L	151636	broad.mit.edu	37	3	122288313	122288313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122288313C>T	ENST00000296161.4	+	3	1566	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	459					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGTCTTTGGGCAAGGAGAGAA	0.388																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1375-1377)ggC>ggT		deltex 3-like (Drosophila)							144.0	135.0	138.0					3																	122288313		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122288313C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1377C>T	3.37:g.122288313C>T						DTX3L_ENST00000383661.3_Intron	p.G459G	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1566	+			459					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.1377C>T	CCDS3015.1																																																																																				0.388	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		105	530	0	0	0	1	0	105	530				
DZIP1	22873	broad.mit.edu	37	13	96258277	96258277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96258277G>A	ENST00000376829.2	-	14	2308	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	DZIP1_ENST00000361396.2_Missense_Mutation_p.S467L|DZIP1_ENST00000361156.3_Missense_Mutation_p.S467L|DZIP1_ENST00000347108.3_Missense_Mutation_p.S486L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	486					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGGCAGACTTGATTTAGTTTC	0.398																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(1456-1458)tCa>tTa		DAZ interacting zinc finger protein 1							132.0	121.0	125.0					13																	96258277		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96258277G>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1457C>T	13.37:g.96258277G>A	ENSP00000366025:p.Ser486Leu					DZIP1_ENST00000361396.2_Missense_Mutation_p.S467L|DZIP1_ENST00000376829.2_Missense_Mutation_p.S486L|DZIP1_ENST00000361156.3_Missense_Mutation_p.S467L	p.S486L			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		12	1889	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		486					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.1457C>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214784	0.58452	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.11169	2.87;2.8;2.8;2.87	5.96	5.96	0.96718	.	0.172090	0.38058	N	0.001835	T	0.24084	0.0583	L	0.60455	1.87	0.31289	N	0.689638	D;D	0.63046	0.992;0.986	P;P	0.59357	0.856;0.722	T	0.04115	-1.0976	10	0.16896	T	0.51	-1.0318	15.9193	0.79547	0.0:0.0:1.0:0.0	.	467;486	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	L	486;467;467;486	ENSP00000257312:S486L;ENSP00000355018:S467L;ENSP00000355175:S467L;ENSP00000366025:S486L	ENSP00000257312:S486L	S	-	2	0	DZIP1	95056278	0.996000	0.38824	0.025000	0.17156	0.048000	0.14542	5.368000	0.66133	2.831000	0.97527	0.650000	0.86243	TCA		0.398	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		7	283	0	0	0	1	0	7	283				
FAXC	84553	broad.mit.edu	37	6	99781260	99781260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99781260G>A	ENST00000389677.5	-	3	848	c.566C>T	c.(565-567)gCg>gTg	p.A189V	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	189						integral component of membrane (GO:0016021)											CTTGGTCACCGCTCTGGAGAT	0.473																																						ENST00000389677.5																			0											c.(565-567)gCg>gTg		failed axon connections homolog (Drosophila)							112.0	108.0	110.0					6																	99781260		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99781260G>A	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.566C>T	6.37:g.99781260G>A	ENSP00000374328:p.Ala189Val					FAXC_ENST00000538471.1_Intron	p.A189V	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN			3	848	-			189					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.566C>T	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215320	0.95104	.	.	ENSG00000146267	ENST00000389677	T	0.14391	2.51	5.65	5.65	0.86999	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00961	-1.1499	10	0.48119	T	0.1	-6.0637	20.0965	0.97849	0.0:0.0:1.0:0.0	.	189	Q5TGI0	CF168_HUMAN	V	189	ENSP00000374328:A189V	ENSP00000374328:A189V	A	-	2	0	C6orf168	99887981	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.420000	0.97426	2.824000	0.97209	0.655000	0.94253	GCG		0.473	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		70	307	0	0	0	1	0	70	307				
SSH1	54434	broad.mit.edu	37	12	109205098	109205098	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109205098G>T	ENST00000326495.5	-	6	501	c.408C>A	c.(406-408)agC>agA	p.S136R	SSH1_ENST00000360239.3_De_novo_Start_OutOfFrame|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.S147R|SSH1_ENST00000551165.1_Missense_Mutation_p.S136R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	136					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAATGGTGCAGCTTTTACTGC	0.522																																						ENST00000360239.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38								slingshot protein phosphatase 1							164.0	137.0	146.0					12																	109205098		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109205098G>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.408C>A	12.37:g.109205098G>T	ENSP00000315713:p.Ser136Arg					SSH1_ENST00000551165.1_Missense_Mutation_p.S136R|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.S147R|SSH1_ENST00000326495.5_Missense_Mutation_p.S136R				Q8WYL5	SSH1_HUMAN			0	494	-								Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Translation_Start_Site	SNP	ENST00000326495.5	37		CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320243	0.60634	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000546697	T;T;T;T	0.77620	1.29;1.29;1.29;-1.11	5.2	5.2	0.72013	.	0.156947	0.64402	D	0.000001	D	0.82273	0.5001	L	0.37507	1.11	0.80722	D	1	B;D;P	0.65815	0.34;0.995;0.76	B;P;B	0.62014	0.07;0.897;0.343	D	0.83762	0.0215	10	0.62326	D	0.03	-34.4919	18.0915	0.89477	0.0:0.0:1.0:0.0	.	147;136;136	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	R	136;136;147;120	ENSP00000315713:S136R;ENSP00000448824:S136R;ENSP00000326107:S147R;ENSP00000446652:S120R	ENSP00000326107:S147R	S	-	3	2	SSH1	107729227	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.069000	0.50026	2.577000	0.86979	0.655000	0.94253	AGC		0.522	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	313	1	0	0.00198382	1	0.00200138	6	313				
SIRPB1	10326	broad.mit.edu	37	20	1592006	1592006	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1592006G>A	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.R144C|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.R144C|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCACGCACAGACAGC	0.532																																						ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(430-432)Cgt>Tgt		signal-regulatory protein beta 1							71.0	74.0	73.0					20																	1592006		299	1036	1335	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592006G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8508C>T	20.37:g.1592006G>A						SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.R144C	p.R144C	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	494	-			144					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.430C>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	9.895	1.205292	0.22205	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.02323	4.34	2.65	0.0409	0.14211	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03390	0.0098	L	0.49350	1.555	0.19575	N	0.999964	P	0.50528	0.936	B	0.42112	0.376	T	0.43877	-0.9364	9	0.38643	T	0.18	.	6.7731	0.23604	0.0:0.0:0.4974:0.5026	.	144	Q5TFQ8	SIRBL_HUMAN	C	144	ENSP00000279477:R144C	ENSP00000279477:R144C	R	-	1	0	SIRPB1	1540006	0.008000	0.16893	0.200000	0.23457	0.013000	0.08279	-0.239000	0.08965	-0.147000	0.11254	-0.718000	0.03613	CGT		0.532	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		72	128	0	0	0	1	0	72	128				
DST	667	broad.mit.edu	37	6	56535563	56535563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56535563C>T	ENST00000361203.3	-	6	464	c.457G>A	c.(457-459)Gca>Aca	p.A153T	DST_ENST00000421834.2_Missense_Mutation_p.A153T|DST_ENST00000370788.2_Missense_Mutation_p.A153T|DST_ENST00000312431.6_Missense_Mutation_p.A153T|DST_ENST00000370769.4_Missense_Mutation_p.A153T|DST_ENST00000370754.5_Missense_Mutation_p.A331T			Q03001	DYST_HUMAN	dystonin	153	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCTTTTGCAGACATATCC	0.403																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(991-993)Gca>Aca		dystonin							63.0	56.0	58.0					6																	56535563		1882	4126	6008	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56535563C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.457G>A	6.37:g.56535563C>T	ENSP00000354508:p.Ala153Thr					DST_ENST00000370769.4_Missense_Mutation_p.A153T|DST_ENST00000312431.6_Missense_Mutation_p.A153T|DST_ENST00000421834.2_Missense_Mutation_p.A153T|DST_ENST00000361203.3_Missense_Mutation_p.A153T|DST_ENST00000370788.2_Missense_Mutation_p.A153T	p.A331T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		9	990	-	Lung NSC(77;0.103)		153					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.991G>A		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544300	0.86022	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297;ENST00000522538;ENST00000523817	D;D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.87	4.87	0.63330	Calponin homology domain (4);	0.000000	0.52532	D	0.000061	D	0.98172	0.9396	M	0.91717	3.235	0.33638	D	0.606963	D;D;D;D;D;D	0.89917	0.999;0.999;0.995;1.0;0.999;0.999	D;D;D;D;D;D	0.81914	0.988;0.994;0.988;0.994;0.995;0.994	D	0.98869	1.0765	9	0.87932	D	0	.	18.5556	0.91083	0.0:1.0:0.0:0.0	.	182;153;153;331;269;153	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	T	331;153;153;153;153;153;193;331;104;146	ENSP00000359790:A331T;ENSP00000359805:A153T;ENSP00000400883:A153T;ENSP00000307959:A153T;ENSP00000359824:A153T;ENSP00000354508:A153T;ENSP00000431030:A193T;ENSP00000393082:A331T;ENSP00000429075:A104T;ENSP00000429221:A146T	ENSP00000307959:A153T	A	-	1	0	DST	56643522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.680000	0.91292	0.591000	0.81541	GCA		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		13	73	0	0	0	1	0	13	73				
PYGB	5834	broad.mit.edu	37	20	25277122	25277122	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25277122C>T	ENST00000216962.4	+	20	2606	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	832					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						AGCCCTCCGACCTGCAGATCC	0.602																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2494-2496)gaC>gaT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						82.0	67.0	72.0					20																	25277122		2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25277122C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2496C>T	20.37:g.25277122C>T						ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	p.D832D	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			20	2606	+			832					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.2496C>T	CCDS13171.1																																																																																				0.602	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		63	327	0	0	0	1	0	63	327				
CYP2W1	54905	broad.mit.edu	37	7	1024606	1024606	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1024606G>A	ENST00000308919.7	+	3	371	c.358G>A	c.(358-360)Gcg>Acg	p.A120T	CYP2W1_ENST00000340150.6_Missense_Mutation_p.A64T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	120					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCATCTGGGGCGCGCTGGAG	0.657																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(190-192)Gcg>Acg		cytochrome P450, family 2, subfamily W, polypeptide 1							34.0	41.0	39.0					7																	1024606		2201	4296	6497	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1024606G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.358G>A	7.37:g.1024606G>A	ENSP00000310149:p.Ala120Thr					CYP2W1_ENST00000308919.7_Missense_Mutation_p.A120T	p.A64T			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	212	+		Ovarian(82;0.0112)	120						Missense_Mutation	SNP	ENST00000308919.7	37	c.190G>A	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823827	0.32237	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.79454	-1.27;-1.27	4.95	-3.52	0.04682	.	0.687765	0.14946	N	0.289225	T	0.65048	0.2654	N	0.20530	0.585	0.09310	N	1	B;B	0.33345	0.409;0.409	B;B	0.38755	0.281;0.158	T	0.60151	-0.7319	10	0.48119	T	0.1	.	15.0167	0.71591	0.0767:0.2303:0.693:0.0	.	64;120	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	T	120;64	ENSP00000310149:A120T;ENSP00000344178:A64T	ENSP00000310149:A120T	A	+	1	0	CYP2W1	991132	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.068000	0.14531	-0.155000	0.11098	0.491000	0.48974	GCG		0.657	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		9	326	0	0	0	1	0	9	326				
VCPIP1	80124	broad.mit.edu	37	8	67577555	67577555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577555G>A	ENST00000310421.4	-	1	1897	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	547					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGACCTTTCGCACAGATGTG	0.423																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1639-1641)Cga>Tga		valosin containing protein (p97)/p47 complex interacting protein 1							199.0	182.0	188.0					8																	67577555		2203	4300	6503	SO:0001587	stop_gained	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577555G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1639C>T	8.37:g.67577555G>A	ENSP00000309031:p.Arg547*						p.R547*	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1897	-		Lung NSC(129;0.142)|all_lung(136;0.227)	547					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	c.1639C>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	39	7.657651	0.98415	.	.	ENSG00000175073	ENST00000310421	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3201	18.6399	0.91392	0.0:0.0:1.0:0.0	.	.	.	.	X	547	.	ENSP00000309031:R547X	R	-	1	2	VCPIP1	67740109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.454000	0.82982	0.650000	0.86243	CGA		0.423	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			205	900	0	0	0	1	0	205	900				
ABLIM2	84448	broad.mit.edu	37	4	8108314	8108314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8108314C>T	ENST00000341937.5	-	2	125	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000296372.8_Missense_Mutation_p.A21T	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	21					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CACAGGATCGCCGTGCTGGGC	0.592																																						ENST00000296372.8																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(61-63)Gcg>Acg		actin binding LIM protein family, member 2							39.0	45.0	43.0					4																	8108314		2113	4219	6332	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8108314C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.61G>A	4.37:g.8108314C>T	ENSP00000342813:p.Ala21Thr					ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A21T	p.A21T			Q6H8Q1	ABLM2_HUMAN			2	203	-			21					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.61G>A	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768134	0.31320	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.32753	1.59;1.85;1.78;1.59;1.77;1.85;1.78;1.53;1.6;1.44	4.15	3.3	0.37823	.	0.171361	0.40385	N	0.001104	T	0.39759	0.1090	L	0.47716	1.5	0.80722	D	1	P;P;P;P;D;B;D;B	0.63880	0.722;0.716;0.655;0.581;0.993;0.278;0.965;0.446	B;B;B;B;P;B;P;B	0.58172	0.08;0.407;0.165;0.287;0.834;0.15;0.637;0.15	T	0.09228	-1.0684	10	0.27082	T	0.32	.	12.5547	0.56246	0.1678:0.8322:0.0:0.0	.	26;21;21;21;21;21;21;21	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	T	21	ENSP00000354887:A21T;ENSP00000296372:A21T;ENSP00000441255:A21T;ENSP00000444365:A21T;ENSP00000393511:A21T;ENSP00000342813:A21T;ENSP00000355003:A21T;ENSP00000384658:A21T;ENSP00000421283:A21T;ENSP00000389410:A21T	ENSP00000296372:A21T	A	-	1	0	ABLIM2	8159214	0.014000	0.17966	0.957000	0.39632	0.118000	0.20060	1.027000	0.30115	1.079000	0.41038	0.462000	0.41574	GCG		0.592	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		20	76	0	0	0	1	0	20	76				
BAIAP3	8938	broad.mit.edu	37	16	1397955	1397955	+	Missense_Mutation	SNP	G	G	A	rs148005520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397955G>A	ENST00000324385.5	+	32	3349	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACTGGTCCGCAGCCAGAGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14079	0.0		0.001	False		,,,				2504	0.0					ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(3190-3192)cGc>cAc		BAI1-associated protein 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4396		0,0,2198	61.0	66.0	64.0		2978,3086,3017,3002,3191	2.8	1.0	16	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	29,29,29,29,29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	993/1117,1029/1153,1006/1130,1001/1125,1064/1188	1397955	2,12994	2198	4300	6498	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1397955G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3191G>A	16.37:g.1397955G>A	ENSP00000324510:p.Arg1064His					BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H	p.R1064H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			32	3349	+		Hepatocellular(780;0.0893)	1064			C2 2.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.3191G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212959	0.39102	0.0	2.33E-4	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.75	2.77	0.32553	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.157023	0.42548	N	0.000693	T	0.42291	0.1196	N	0.10685	0.025	0.38294	D	0.942807	B;B;B;B	0.18310	0.027;0.027;0.027;0.027	B;B;B;B	0.14578	0.003;0.006;0.011;0.006	T	0.28839	-1.0031	10	0.56958	D	0.05	-24.6693	7.0705	0.25175	0.2877:0.0:0.7123:0.0	.	993;1006;1064;1046	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1029;1046;1064;1046;993	ENSP00000407242:R1029H;ENSP00000380625:R1046H;ENSP00000324510:R1064H;ENSP00000380626:R1046H;ENSP00000409533:R993H	ENSP00000324510:R1064H	R	+	2	0	BAIAP3	1337956	0.989000	0.36119	1.000000	0.80357	0.913000	0.54294	0.847000	0.27696	0.421000	0.25980	0.561000	0.74099	CGC		0.627	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			126	593	0	0	0	1	0	126	593				
CSMD1	64478	broad.mit.edu	37	8	2832035	2832035	+	Missense_Mutation	SNP	C	C	T	rs532302924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2832035C>T	ENST00000520002.1	-	57	9236	c.8681G>A	c.(8680-8682)gGc>gAc	p.G2894D	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2894D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2894	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTGTCGTTGCCTATGAGGCT	0.597													C|||	0	0.0	0.0	0.0	5008	,	,		15651	0.0		0.0	False		,,,				2504	0.0					ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8680-8682)gGc>gAc		CUB and Sushi multiple domains 1							53.0	55.0	54.0					8																	2832035		2019	4185	6204	SO:0001583	missense	64478					integral to membrane		g.chr8:2832035C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8681G>A	8.37:g.2832035C>T	ENSP00000430733:p.Gly2894Asp					CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2894D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D	p.G2894D			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9236	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2894			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8681G>A		.	.	.	.	.	.	.	.	.	.	C	17.10	3.302160	0.60195	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.66	4.79	0.61399	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	D	0.92904	0.6342	10	0.72032	D	0.01	.	14.7098	0.69222	0.0:0.9304:0.0:0.0696	.	2894;2894;2835	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	D	2836;2894;2755;2893;2835	ENSP00000383047:G2836D;ENSP00000430733:G2894D;ENSP00000441462:G2893D;ENSP00000446243:G2835D	ENSP00000320445:G2755D	G	-	2	0	CSMD1	2819442	1.000000	0.71417	0.138000	0.22173	0.003000	0.03518	7.642000	0.83385	1.387000	0.46486	0.655000	0.94253	GGC		0.597	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		22	117	0	0	0	1	0	22	117				
IFIT3	3437	broad.mit.edu	37	10	91098602	91098602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098602G>T	ENST00000371818.4	+	2	370	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	IFIT3_ENST00000371811.4_Missense_Mutation_p.D64Y|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	64					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AAAACACCTAGATGGTAACAA	0.418																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(190-192)Gat>Tat		interferon-induced protein with tetratricopeptide repeats 3							102.0	100.0	101.0					10																	91098602		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91098602G>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.190G>T	10.37:g.91098602G>T	ENSP00000360883:p.Asp64Tyr					LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.D64Y	p.D64Y	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	370	+			64					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.190G>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	6.674	0.492880	0.12702	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	D;D	0.94046	-3.34;-3.34	4.58	-9.16	0.00694	Tetratricopeptide-like helical (1);	1.696370	0.02698	N	0.111449	D	0.92153	0.7512	L	0.36672	1.1	0.09310	N	1	D	0.55800	0.973	P	0.56163	0.793	D	0.90690	0.4612	10	0.72032	D	0.01	1.3031	10.1446	0.42755	0.4859:0.3721:0.142:0.0	.	64	O14879	IFIT3_HUMAN	Y	64	ENSP00000360883:D64Y;ENSP00000360876:D64Y	ENSP00000360876:D64Y	D	+	1	0	IFIT3	91088582	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.606000	0.05654	-3.526000	0.00147	-0.300000	0.09419	GAT		0.418	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		12	436	1	0	9.05144e-12	1	9.67624e-12	12	436				
FBXW5	54461	broad.mit.edu	37	9	139836666	139836666	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836666G>A	ENST00000325285.3	-	6	1007	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	310					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGCCCCTCCAGCACGCGGTCC	0.706																																						ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(928-930)Ctg>Ttg		F-box and WD repeat domain containing 5							13.0	18.0	17.0					9																	139836666		2173	4281	6454	SO:0001819	synonymous_variant	54461						catalytic activity|protein binding	g.chr9:139836666G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.928C>T	9.37:g.139836666G>A						FBXW5_ENST00000483559.1_5'UTR	p.L310L	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	6	1007	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	310					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	c.928C>T	CCDS7014.1																																																																																				0.706	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		15	49	0	0	0	1	0	15	49				
SHMT2	6472	broad.mit.edu	37	12	57625629	57625629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57625629G>A	ENST00000328923.3	+	4	897	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T|SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000393827.4_Nonsense_Mutation_p.W43*	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	149					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	AGCCAACCTGGCCGTCTACAC	0.637																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000393827.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(127-129)tgG>tgA		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						52.0	48.0	49.0					12																	57625629		2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57625629G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.445G>A	12.37:g.57625629G>A	ENSP00000333667:p.Ala149Thr					SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000328923.3_Missense_Mutation_p.A149T|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T	p.W43*			P34897	GLYM_HUMAN			3	385	+			0					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Nonsense_Mutation	SNP	ENST00000328923.3	37	c.129G>A	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.776594|5.776594	0.96929|0.96929	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737|ENST00000393827	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46451|.	1.35;0.87;0.87;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84000|.	0.5376|.	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.999;1.0|.	D|.	0.87028|.	0.2133|.	9|.	0.54805|0.59425	T|D	0.06|0.04	-14.0511|-14.0511	16.9817|16.9817	0.86329|0.86329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158;149;149|.	B4DWA7;Q8N1A5;P34897|.	.;.;GLYM_HUMAN|.	T|X	149;149;149;128;128;128;128;128;128;128;128;128;128|43	ENSP00000333667:A149T;ENSP00000452315:A149T;ENSP00000452035:A149T;ENSP00000406881:A128T;ENSP00000450452:A128T;ENSP00000452161:A128T;ENSP00000450893:A128T;ENSP00000452045:A128T;ENSP00000452419:A128T;ENSP00000451968:A128T;ENSP00000452404:A128T;ENSP00000413770:A128T;ENSP00000451495:A128T|.	ENSP00000333667:A149T|ENSP00000377413:W43X	A|W	+|+	1|3	0|0	SHMT2|SHMT2	55911896|55911896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	9.657000|9.657000	0.98554|0.98554	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCC|TGG		0.637	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		30	147	0	0	0	1	0	30	147				
TBC1D14	57533	broad.mit.edu	37	4	7008409	7008409	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7008409C>T	ENST00000409757.4	+	9	1526	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	TBC1D14_ENST00000448507.1_Silent_p.L468L|TBC1D14_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000410031.1_Silent_p.L240L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	468	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCTTATTAAACTGGACATTTC	0.388																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1402-1404)Ctg>Ttg		TBC1 domain family, member 14							112.0	110.0	111.0					4																	7008409		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:7008409C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1402C>T	4.37:g.7008409C>T						TBC1D14_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000410031.1_Silent_p.L240L|TBC1D14_ENST00000448507.1_Silent_p.L468L	p.L468L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			9	1526	+			468			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.1402C>T	CCDS3394.2																																																																																				0.388	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		45	244	0	0	0	1	0	45	244				
KLHL1	57626	broad.mit.edu	37	13	70681635	70681635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70681635C>A	ENST00000377844.4	-	1	956	c.197G>T	c.(196-198)aGc>aTc	p.S66I	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	66	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGAAAGTGCTCACACCGCT	0.592																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(196-198)aGc>aTc		kelch-like family member 1							85.0	93.0	90.0					13																	70681635		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681635C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.197G>T	13.37:g.70681635C>A	ENSP00000367075:p.Ser66Ile					ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	p.S66I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	956	-		Breast(118;0.000162)	66			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.197G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967163	0.34754	.	.	ENSG00000150361	ENST00000377844	T	0.73152	-0.72	5.19	5.19	0.71726	.	4.515440	0.00357	N	0.000035	T	0.65533	0.2700	N	0.22421	0.69	0.80722	D	1	B;B	0.24823	0.112;0.047	B;B	0.19148	0.024;0.024	T	0.16897	-1.0387	10	0.48119	T	0.1	.	15.6983	0.77517	0.0:1.0:0.0:0.0	.	66;66	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	66	ENSP00000367075:S66I	ENSP00000367075:S66I	S	-	2	0	KLHL1	69579636	0.996000	0.38824	1.000000	0.80357	0.844000	0.47949	5.094000	0.64523	2.435000	0.82474	0.650000	0.86243	AGC		0.592	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		86	380	1	0	9.10895e-26	1	1.04693e-25	86	380				
FLCN	201163	broad.mit.edu	37	17	17124912	17124912	+	Silent	SNP	G	G	A	rs372342796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17124912G>A	ENST00000285071.4	-	8	1264	c.810C>T	c.(808-810)acC>acT	p.T270T	FLCN_ENST00000389169.5_Silent_p.T270T|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	270					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAGCTTCTCGGTCAGCCGGC	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		17094	0.0		0.0	False		,,,				2504	0.001					ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(808-810)acC>acT		folliculin		G	,	0,4406		0,0,2203	29.0	28.0	28.0		810,810	-12.2	0.0	17		28	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FLCN	NM_144606.5,NM_144997.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	270/343,270/580	17124912	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17124912G>A	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.810C>T	17.37:g.17124912G>A						FLCN_ENST00000389169.5_Silent_p.T270T|RP11-45M22.4_ENST00000427497.3_Intron	p.T270T	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			8	1264	-			270					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.810C>T	CCDS32579.1																																																																																				0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		55	222	0	0	0	1	0	55	222				
APOL1	8542	broad.mit.edu	37	22	36651007	36651007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36651007G>T	ENST00000397278.3	+	2	235	c.6G>T	c.(4-6)gaG>gaT	p.E2D	APOL1_ENST00000347595.7_Intron|APOL1_ENST00000422706.1_Missense_Mutation_p.E2D|APOL1_ENST00000440669.2_Missense_Mutation_p.E2D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D|APOL1_ENST00000319136.4_Missense_Mutation_p.E18D|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	2					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GCGACATGGAGGGAGCTGCTT	0.542																																						ENST00000319136.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(52-54)gaG>gaT		apolipoprotein L, 1							72.0	68.0	70.0					22																	36651007		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36651007G>T	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.6G>T	22.37:g.36651007G>T	ENSP00000380448:p.Glu2Asp					APOL1_ENST00000422706.1_Missense_Mutation_p.E2D|APOL1_ENST00000397278.3_Missense_Mutation_p.E2D|APOL1_ENST00000440669.2_Missense_Mutation_p.E2D|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D	p.E18D	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			3	321	+			2					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.54G>T	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.865132	0.32977	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000438034;ENST00000427990;ENST00000397279;ENST00000433768;ENST00000440669	T;T;T;T;T;T	0.22945	3.53;3.53;3.17;3.48;1.93;3.53	1.83	0.579	0.17397	.	416.553000	0.01513	U	0.018039	T	0.22627	0.0546	N	0.19112	0.55	0.18873	N	0.999982	D;D;D	0.64830	0.989;0.989;0.994	P;B;P	0.49226	0.496;0.399;0.603	T	0.09400	-1.0676	10	0.56958	D	0.05	.	3.2446	0.06793	0.4761:0.0:0.5239:0.0	.	2;2;18	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	2;2;2;18;31;2;2;2;2	ENSP00000380448:E2D;ENSP00000411507:E2D;ENSP00000388477:E2D;ENSP00000317674:E18D;ENSP00000391302:E2D;ENSP00000380449:E2D	ENSP00000317674:E18D	E	+	3	2	APOL1	34980953	0.004000	0.15560	0.009000	0.14445	0.224000	0.24922	-0.005000	0.12855	0.149000	0.19098	0.184000	0.17185	GAG		0.542	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		41	298	1	0	1.7489e-18	1	1.94175e-18	41	298				
ZNF846	162993	broad.mit.edu	37	19	9869139	9869139	+	Missense_Mutation	SNP	C	C	A	rs544217428		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9869139C>A	ENST00000397902.2	-	6	1027	c.614G>T	c.(613-615)aGa>aTa	p.R205I	ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGAAAAGTTCTCCAACAGTC	0.358																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(613-615)aGa>aTa		zinc finger protein 846							118.0	123.0	122.0					19																	9869139		1997	4182	6179	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869139C>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.614G>T	19.37:g.9869139C>A	ENSP00000380999:p.Arg205Ile					ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I|ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I	p.R205I	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1027	-			205					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.614G>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.235018	0.39498	.	.	ENSG00000196605	ENST00000397902	T	0.38887	1.11	1.9	-1.57	0.08506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33411	0.0862	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.41299	0.353	T	0.23868	-1.0176	8	.	.	.	.	6.1997	0.20569	0.0:0.3568:0.0:0.6432	.	205	Q147U1	ZN846_HUMAN	I	205	ENSP00000380999:R205I	.	R	-	2	0	ZNF846	9730139	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.490000	0.22403	-0.348000	0.08286	0.558000	0.71614	AGA		0.358	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		49	266	1	0	1.86633e-21	1	2.10207e-21	49	266				
AMOT	154796	broad.mit.edu	37	X	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112048243G>A	ENST00000524145.1	-	6	1782	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.R570*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*			Q4VCS5	AMOT_HUMAN	angiomotin	570					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGATGTGTCGTCTTTGGTCC	0.512																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1708-1710)Cga>Tga		angiomotin							282.0	234.0	250.0					X																	112048243		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112048243G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1708C>T	X.37:g.112048243G>A	ENSP00000429013:p.Arg570*					AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*	p.R570*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			5	1707	-			570					Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.1708C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	g	39	7.434134	0.98282	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.96	4.17	0.49024	.	0.054811	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5027	12.9983	0.58660	0.0:0.0:0.4395:0.5605	.	.	.	.	X	161;570;338;570;338	.	ENSP00000305557:R161X	R	-	1	2	AMOT	111934899	0.999000	0.42202	0.985000	0.45067	0.996000	0.88848	2.872000	0.48467	0.623000	0.30267	0.597000	0.82753	CGA		0.512	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		246	961	0	0	0	1	0	246	961				
SDCCAG8	10806	broad.mit.edu	37	1	243480090	243480090	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243480090C>T	ENST00000366541.3	+	9	1081	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SDCCAG8_ENST00000391846.1_Silent_p.S321S|SDCCAG8_ENST00000343783.6_Silent_p.S176S|SDCCAG8_ENST00000355875.4_Silent_p.S278S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	321	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CACTAGTTTCCGTAAGGAGCA	0.398																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(961-963)tcC>tcT		serologically defined colon cancer antigen 8							95.0	91.0	92.0					1																	243480090		2203	4300	6503	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243480090C>T	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.963C>T	1.37:g.243480090C>T						SDCCAG8_ENST00000343783.6_Silent_p.S176S|SDCCAG8_ENST00000391846.1_Silent_p.S321S|SDCCAG8_ENST00000355875.4_Silent_p.S278S	p.S321S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	9	1081	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	321			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.963C>T	CCDS31075.1																																																																																				0.398	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		51	273	0	0	0	1	0	51	273				
CYLD	1540	broad.mit.edu	37	16	50815323	50815323	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50815323G>T	ENST00000427738.3	+	9	1889		c.e9+1		CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000540145.1_Splice_Site|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000568704.2_Intron|RP11-327F22.4_ENST00000575917.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)						cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AACTCTTTAGGTATTTGGATG	0.383			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.e10+1		cylindromatosis (turban tumor syndrome)							107.0	98.0	101.0					16																	50815323		1882	4115	5997	SO:0001630	splice_region_variant	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50815323G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1684+1G>T	16.37:g.50815323G>T						CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000427738.3_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000568704.2_Intron				Q9NQC7	CYLD_HUMAN			10	2099	+		all_cancers(37;0.0156)						O94934|Q7L3N6|Q96EH0|Q9NZX9	Splice_Site	SNP	ENST00000427738.3	37		CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750995	0.89753	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLD	49372824	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.414000	0.97362	2.836000	0.97738	0.655000	0.94253	.		0.383	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		Intron	45	227	1	0	4.14194e-30	1	4.85262e-30	45	227				
SI	6476	broad.mit.edu	37	3	164748559	164748559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164748559G>A	ENST00000264382.3	-	25	2895	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	945	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTGCATCTGGATAACAATTA	0.328										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2833-2835)Cca>Tca		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						89.0	95.0	93.0					3																	164748559		2202	4295	6497	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164748559G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2833C>T	3.37:g.164748559G>A	ENSP00000264382:p.Pro945Ser	HNSCC(35;0.089)					p.P945S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			25	2895	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	945			Isomaltase.|P-type 2.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2833C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936796	0.52972	.	.	ENSG00000090402	ENST00000264382	T	0.12984	2.63	4.94	4.94	0.65067	P-type trefoil (4);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.89785	3.06	0.48901	D	0.999728	D	0.89917	1.0	D	0.97110	1.0	T	0.54316	-0.8312	10	0.87932	D	0	.	15.0109	0.71550	0.0:0.0:1.0:0.0	.	945	P14410	SUIS_HUMAN	S	945	ENSP00000264382:P945S	ENSP00000264382:P945S	P	-	1	0	SI	166231253	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	5.498000	0.66931	2.563000	0.86464	0.655000	0.94253	CCA		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		73	346	0	0	0	1	0	73	346				
GPR182	11318	broad.mit.edu	37	12	57389159	57389159	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389159C>A	ENST00000300098.1	+	2	385	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	56					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCGCGTGGTCCTCTTTGCCCT	0.592																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(166-168)Ctc>Atc		G protein-coupled receptor 182							211.0	189.0	197.0					12																	57389159		2203	4300	6503	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389159C>A	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.166C>A	12.37:g.57389159C>A	ENSP00000300098:p.Leu56Ile						p.L56I	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	385	+			56						Missense_Mutation	SNP	ENST00000300098.1	37	c.166C>A	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759994	0.69763	.	.	ENSG00000166856	ENST00000300098	T	0.43294	0.95	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.40448	0.1117	L	0.34521	1.04	0.44201	D	0.997028	D	0.58620	0.983	P	0.53313	0.723	T	0.12192	-1.0557	10	0.41790	T	0.15	.	8.6249	0.33883	0.0:0.8967:0.0:0.1033	.	56	O15218	GP182_HUMAN	I	56	ENSP00000300098:L56I	ENSP00000300098:L56I	L	+	1	0	GPR182	55675426	1.000000	0.71417	0.897000	0.35233	0.901000	0.52897	3.782000	0.55401	2.504000	0.84457	0.561000	0.74099	CTC		0.592	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		145	607	1	0	1.02459e-47	1	1.26223e-47	145	607				
SEC14L2	23541	broad.mit.edu	37	22	30805262	30805262	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30805262C>T	ENST00000312932.9	+	6	770	c.510C>T	c.(508-510)gcC>gcT	p.A170A	SEC14L2_ENST00000402592.3_Silent_p.A87A|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000405717.3_Silent_p.A170A|RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000403484.1_Silent_p.A96A	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	170	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CTGTGGAGGCCTATggagagg	0.602																																						ENST00000312932.9																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.(508-510)gcC>gcT		SEC14-like 2 (S. cerevisiae)	Vitamin E(DB00163)						49.0	54.0	52.0					22																	30805262		2203	4300	6503	SO:0001819	synonymous_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30805262C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.510C>T	22.37:g.30805262C>T						RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000405717.3_Silent_p.A170A|SEC14L2_ENST00000402592.3_Silent_p.A87A|SEC14L2_ENST00000403484.1_Silent_p.A96A	p.A170A	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN			6	770	+			170			CRAL-TRIO.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	ENST00000312932.9	37	c.510C>T	CCDS13876.1																																																																																				0.602	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		59	197	0	0	0	1	0	59	197				
ZNF217	7764	broad.mit.edu	37	20	52192856	52192856	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192856C>T	ENST00000371471.2	-	4	2872	c.2447G>A	c.(2446-2448)aGt>aAt	p.S816N	ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	816					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTTCAGGTTACTTGGGGCTAA	0.567																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2446-2448)aGt>aAt		zinc finger protein 217							61.0	66.0	65.0					20																	52192856		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192856C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2447G>A	20.37:g.52192856C>T	ENSP00000360526:p.Ser816Asn					ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N	p.S816N			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	2872	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		816					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.2447G>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092140	0.36952	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09255	3.0;3.0	5.23	4.28	0.50868	.	0.607508	0.18458	N	0.140604	T	0.08626	0.0214	L	0.39397	1.21	0.39431	D	0.967082	B	0.19200	0.034	B	0.14023	0.01	T	0.16928	-1.0386	10	0.18276	T	0.48	-30.6571	8.4592	0.32917	0.0:0.8275:0.0:0.1725	.	816	O75362	ZN217_HUMAN	N	816	ENSP00000360526:S816N;ENSP00000304308:S816N	ENSP00000304308:S816N	S	-	2	0	ZNF217	51626263	0.987000	0.35691	0.894000	0.35097	0.946000	0.59487	2.037000	0.41174	2.439000	0.82584	0.555000	0.69702	AGT		0.567	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		90	406	0	0	0	1	0	90	406				
SLC35E2	9906	broad.mit.edu	37	1	1670364	1670364	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1670364A>G	ENST00000246421.4	-	3	870	c.455T>C	c.(454-456)aTg>aCg	p.M152T	RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152T|SLC35E2_ENST00000355439.2_Missense_Mutation_p.M152T	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	152						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTTTACCTCATCAGACCCAC	0.473																																						ENST00000355439.2																			0				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(454-456)aTg>aCg		solute carrier family 35, member E2							25.0	32.0	30.0					1																	1670364		2196	4294	6490	SO:0001583	missense	9906					integral to membrane		g.chr1:1670364A>G	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.455T>C	1.37:g.1670364A>G	ENSP00000246421:p.Met152Thr					SLC35E2_ENST00000246421.4_Missense_Mutation_p.M152T|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152T	p.M152T	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	1215	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	152					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Missense_Mutation	SNP	ENST00000246421.4	37	c.455T>C	CCDS33.1	.	.	.	.	.	.	.	.	.	.	a	12.20	1.867997	0.32977	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	D;D;D	0.92348	-3.02;-3.02;-3.02	2.89	2.89	0.33648	Drug/metabolite transporter (1);	0.110770	0.64402	U	0.000017	D	0.92169	0.7517	L	0.45352	1.415	0.30531	N	0.767464	D;D	0.63046	0.992;0.98	D;P	0.64687	0.928;0.795	D	0.87896	0.2687	10	0.28530	T	0.3	.	10.2092	0.43131	1.0:0.0:0.0:0.0	.	152;152	P0CK97;P0CK97-2	S35E2_HUMAN;.	T	152	ENSP00000347614:M152T;ENSP00000383714:M152T;ENSP00000246421:M152T	ENSP00000246421:M152T	M	-	2	0	SLC35E2	1660224	1.000000	0.71417	0.975000	0.42487	0.373000	0.29922	8.889000	0.92470	1.312000	0.45043	0.433000	0.28618	ATG		0.473	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		10	75	0	0	0	1	0	10	75				
KIF14	9928	broad.mit.edu	37	1	200524583	200524583	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200524583C>T	ENST00000367350.4	-	28	4792		c.e28-1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14						ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTTGGTAACCTATAGAGAAT	0.269																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.e28-1		kinesin family member 14							47.0	50.0	49.0					1																	200524583		2198	4281	6479	SO:0001630	splice_region_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200524583C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4354-1G>A	1.37:g.200524583C>T								NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			28	4792	-								Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	37		CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222434	0.58668	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5612	0.76249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF14	198791206	0.998000	0.40836	0.347000	0.25668	0.799000	0.45148	4.317000	0.59184	2.682000	0.91365	0.655000	0.94253	.		0.269	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	Intron	49	135	0	0	0	1	0	49	135				
ZNF878	729747	broad.mit.edu	37	19	12154660	12154660	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12154660G>A	ENST00000547628.1	-	4	1693	c.1556C>T	c.(1555-1557)gCc>gTc	p.A519V	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.A566V|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAGGATTGAGGCAGATCTAAA	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1696-1698)gCc>gTc		zinc finger protein 878							69.0	77.0	74.0					19																	12154660		2191	4292	6483	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12154660G>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1556C>T	19.37:g.12154660G>A	ENSP00000447931:p.Ala519Val					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.A519V|CTD-2006C1.10_ENST00000547473.1_Intron	p.A566V			C9JN71	ZN878_HUMAN			5	1696	-			519						Missense_Mutation	SNP	ENST00000547628.1	37	c.1697C>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	3.265	-0.150337	0.06585	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.28069	1.63	1.49	-2.97	0.05530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15912	0.0383	L	0.31420	0.93	0.09310	N	1	P	0.44734	0.842	B	0.36922	0.236	T	0.05007	-1.0912	9	0.40728	T	0.16	.	4.1742	0.10345	0.4878:0.0:0.2714:0.2408	.	519	C9JN71	ZN878_HUMAN	V	519;566	ENSP00000447931:A519V	ENSP00000447931:A519V	A	-	2	0	AC022415.4;ZNF878	12015660	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.020000	0.13466	-2.235000	0.00714	-1.925000	0.00514	GCC		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		16	185	0	0	0	1	0	16	185				
WRNIP1	56897	broad.mit.edu	37	6	2770555	2770555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2770555C>A	ENST00000380773.4	+	3	1425	c.1216C>A	c.(1216-1218)Ccc>Acc	p.P406T	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T|WRNIP1_ENST00000380769.4_Missense_Mutation_p.P186T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTCTAGCCGTCCCACTGACCC	0.547																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(556-558)Ccc>Acc		Werner helicase interacting protein 1							77.0	72.0	74.0					6																	2770555		2203	4300	6503	SO:0001583	missense	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2770555C>A	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1216C>A	6.37:g.2770555C>A	ENSP00000370150:p.Pro406Thr					WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T|WRNIP1_ENST00000380773.4_Missense_Mutation_p.P406T	p.P186T			Q96S55	WRIP1_HUMAN			3	787	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	406						Missense_Mutation	SNP	ENST00000380773.4	37	c.556C>A	CCDS4475.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501245	0.44455	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.43688	0.94;1.0;1.01	5.79	4.93	0.64822	.	0.437998	0.24657	N	0.036668	T	0.12433	0.0302	N	0.25647	0.755	0.30469	N	0.773538	B;B	0.15473	0.013;0.006	B;B	0.11329	0.006;0.006	T	0.13818	-1.0495	10	0.14252	T	0.57	-17.2905	12.2648	0.54672	0.0:0.9222:0.0:0.0778	.	381;406	Q96S55-2;Q96S55	.;WRIP1_HUMAN	T	406;381;186;22	ENSP00000370150:P406T;ENSP00000370148:P381T;ENSP00000370146:P186T	ENSP00000370141:P22T	P	+	1	0	WRNIP1	2715554	0.733000	0.28132	0.934000	0.37439	0.998000	0.95712	2.859000	0.48364	1.447000	0.47661	0.650000	0.86243	CCC		0.547	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		25	282	1	0	1.12875e-08	1	1.18168e-08	25	282				
MSH2	4436	broad.mit.edu	37	2	47693796	47693796	+	Splice_Site	SNP	G	G	T	rs267607964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47693796G>T	ENST00000233146.2	+	10	1733		c.e10-1		MSH2_ENST00000543555.1_Splice_Site|MSH2_ENST00000406134.1_Splice_Site	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2						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)			TGATTATCAAGGCTTGGACCC	0.308			"""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.e10-1	Mismatch excision repair (MMR)	mutS homolog 2							79.0	84.0	82.0					2																	47693796		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:47693796G>T	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.1511-1G>T	2.37:g.47693796G>T						MSH2_ENST00000233146.2_Splice_Site|MSH2_ENST00000543555.1_Splice_Site				P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1572	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)						B4E2Z2|O75488	Splice_Site	SNP	ENST00000233146.2	37		CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982568	0.74474	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000413880	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH2	47547300	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.947000	0.93000	2.873000	0.98535	0.563000	0.77884	.		0.308	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		Intron	63	371	1	0	2.40885e-21	1	2.71177e-21	63	371				
FLJ36000	284124	broad.mit.edu	37	17	21911000	21911000	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21911000G>T	ENST00000581223.2	+	0	1725					NR_027084.1																						gagtcgcaaagggccgaccag	0.672																																						ENST00000581223.2																			0																																																			0							g.chr17:21911000G>T																													17.37:g.21911000G>T								NR_027084.1						0	1725	+									RNA	SNP	ENST00000581223.2	37																																																																																						0.672	RP11-744K17.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000451067.1			5	34	1	0	0.000602214	1	0.000609647	5	34				
ABCA5	23461	broad.mit.edu	37	17	67273834	67273834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67273834C>A	ENST00000392676.3	-	19	2606	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S|ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	848					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TGAAACTTTGCTATTGTATAC	0.353																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(2542-2544)Gca>Tca		ATP-binding cassette, sub-family A (ABC1), member 5							82.0	74.0	77.0					17																	67273834		2202	4298	6500	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67273834C>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2542G>T	17.37:g.67273834C>A	ENSP00000376443:p.Ala848Ser					ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S|ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S	p.A848S			Q8WWZ7	ABCA5_HUMAN			19	2606	-	Breast(10;3.72e-11)		848					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2542G>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316960	0.81469	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88046	-2.32;-2.33	5.73	4.74	0.60224	.	0.085848	0.49916	D	0.000123	D	0.88411	0.6429	M	0.84948	2.725	0.50632	D	0.99988	P;B	0.36162	0.54;0.405	B;B	0.37346	0.247;0.125	D	0.87949	0.2722	9	.	.	.	.	14.6363	0.68692	0.0:0.9248:0.0:0.0752	.	848;848	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	S	848	ENSP00000376444:A848S;ENSP00000376443:A848S	.	A	-	1	0	ABCA5	64785429	1.000000	0.71417	0.936000	0.37596	0.999000	0.98932	3.880000	0.56145	2.861000	0.98227	0.655000	0.94253	GCA		0.353	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		39	187	1	0	1.67305e-13	1	1.80725e-13	39	187				
C5orf45	51149	broad.mit.edu	37	5	179275064	179275064	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179275064A>C	ENST00000292586.6	-	3	219	c.129T>G	c.(127-129)gcT>gcG	p.A43A	Y_RNA_ENST00000516393.1_RNA|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000518235.1_Silent_p.A43A|C5orf45_ENST00000403396.2_Silent_p.A85A|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_Silent_p.A43A|RN7SKP150_ENST00000410516.1_RNA	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	43										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CTTCACCATAAGCCTGAGAAA	0.423																																						ENST00000518219.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(127-129)gcT>gcG		chromosome 5 open reading frame 45							95.0	95.0	95.0					5																	179275064		2203	4300	6503	SO:0001819	synonymous_variant	51149							g.chr5:179275064A>C		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.129T>G	5.37:g.179275064A>C						C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Silent_p.A85A|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000292586.6_Silent_p.A43A|C5orf45_ENST00000518235.1_Silent_p.A43A	p.A43A			Q6NTE8	CE045_HUMAN			3	140	-			43					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	37	c.129T>G	CCDS34319.1																																																																																				0.423	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		104	281	0	0	0	1	0	104	281				
ZNF471	57573	broad.mit.edu	37	19	57036570	57036570	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036570T>C	ENST00000308031.5	+	5	1267	c.1134T>C	c.(1132-1134)atT>atC	p.I378I	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.L238S	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTAATTGCATTGATTGTGGGA	0.393																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000591537.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(712-714)tTg>tCg		zinc finger protein 471							88.0	93.0	91.0					19																	57036570		2203	4300	6503	SO:0001819	synonymous_variant	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036570T>C	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1134T>C	19.37:g.57036570T>C						ZNF471_ENST00000308031.5_Silent_p.I378I|ZNF471_ENST00000593197.1_Intron	p.L238S			Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	839	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	0					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.713T>C	CCDS12945.1																																																																																				0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		114	506	0	0	0	1	0	114	506				
ST6GALNAC2	10610	broad.mit.edu	37	17	74566667	74566667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74566667C>A	ENST00000225276.5	-	6	1072	c.753G>T	c.(751-753)gaG>gaT	p.E251D	ST6GALNAC2_ENST00000586520.1_5'Flank|RP11-666A8.9_ENST00000588104.1_RNA	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	251					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TATCTAGGCCCTCAGGGACAG	0.577																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(751-753)gaG>gaT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							66.0	56.0	60.0					17																	74566667		2203	4300	6503	SO:0001583	missense	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74566667C>A	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.753G>T	17.37:g.74566667C>A	ENSP00000225276:p.Glu251Asp					RP11-666A8.9_ENST00000588104.1_RNA	p.E251D	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			6	1072	-			251					Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	c.753G>T	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236109	0.39498	.	.	ENSG00000070731	ENST00000225276	T	0.32753	1.44	5.33	-4.12	0.03916	.	0.608321	0.17340	N	0.177778	T	0.21550	0.0519	L	0.49455	1.56	0.19575	N	0.999968	B	0.23990	0.095	B	0.30105	0.111	T	0.21793	-1.0235	10	0.31617	T	0.26	-21.5136	5.619	0.17448	0.2208:0.2779:0.0:0.5014	.	251	Q9UJ37	SIA7B_HUMAN	D	251	ENSP00000225276:E251D	ENSP00000225276:E251D	E	-	3	2	ST6GALNAC2	72078262	0.002000	0.14202	0.000000	0.03702	0.811000	0.45836	-0.624000	0.05540	-0.528000	0.06366	-0.339000	0.08088	GAG		0.577	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		7	75	1	0	0.00198382	1	0.00200138	7	75				
IBA57	200205	broad.mit.edu	37	1	228363176	228363176	+	Missense_Mutation	SNP	G	G	A	rs150912462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228363176G>A	ENST00000366711.3	+	3	1035	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	IBA57_ENST00000546123.1_Missense_Mutation_p.A152T|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	345					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GGCCTTAGCCGCATCTGTGCC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18906	0.0		0.001	False		,,,				2504	0.0					ENST00000366711.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(1033-1035)Gca>Aca		IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	78.0	76.0		1033	4.3	0.0	1	dbSNP_134	76	4,8594	3.7+/-12.6	0,4,4295	yes	missense	IBA57	NM_001010867.2	58	0,5,6497	AA,AG,GG		0.0465,0.0227,0.0384	benign	345/357	228363176	5,12999	2203	4299	6502	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228363176G>A	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.1033G>A	1.37:g.228363176G>A	ENSP00000355672:p.Ala345Thr					IBA57_ENST00000546123.1_Missense_Mutation_p.A152T|IBA57_ENST00000484749.1_3'UTR	p.A345T	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN			3	1035	+			345						Missense_Mutation	SNP	ENST00000366711.3	37	c.1033G>A	CCDS31046.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.52	2.261711	0.39995	2.27E-4	4.65E-4	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.45276	0.9;0.9	5.29	4.34	0.51931	.	0.217790	0.47093	D	0.000253	T	0.48390	0.1497	M	0.69823	2.125	0.43444	D	0.995629	P	0.38078	0.617	B	0.42319	0.383	T	0.44205	-0.9343	10	0.25751	T	0.34	-5.6154	17.4459	0.87577	0.0:0.1343:0.8657:0.0	.	345	Q5T440	CAF17_HUMAN	T	345;152	ENSP00000355672:A345T;ENSP00000437347:A152T	ENSP00000355672:A345T	A	+	1	0	IBA57	226429799	1.000000	0.71417	0.023000	0.16930	0.168000	0.22595	6.874000	0.75546	2.753000	0.94483	0.650000	0.86243	GCA		0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		104	609	0	0	0	1	0	104	609				
EVPL	2125	broad.mit.edu	37	17	74017962	74017962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017962G>A	ENST00000301607.3	-	7	1046	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	EVPL_ENST00000586740.1_Missense_Mutation_p.R265W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	265	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TACTCCCGCCGCACGCCCGCA	0.756																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(793-795)Cgg>Tgg		envoplakin							4.0	6.0	5.0					17																	74017962		1917	3916	5833	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74017962G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.793C>T	17.37:g.74017962G>A	ENSP00000301607:p.Arg265Trp					EVPL_ENST00000586740.1_Missense_Mutation_p.R265W	p.R265W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			7	1046	-			265			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.793C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023501	0.75390	.	.	ENSG00000167880	ENST00000301607	T	0.36340	1.26	4.48	1.06	0.20224	.	0.066524	0.64402	D	0.000011	T	0.55545	0.1927	M	0.72894	2.215	0.47737	D	0.999509	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.952	T	0.58346	-0.7652	10	0.87932	D	0	-28.1071	13.1488	0.59478	0.0:0.0:0.5953:0.4047	.	265;265	B7ZLH8;Q92817	.;EVPL_HUMAN	W	265	ENSP00000301607:R265W	ENSP00000301607:R265W	R	-	1	2	EVPL	71529557	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	4.253000	0.58791	0.035000	0.15519	0.563000	0.77884	CGG		0.756	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		12	40	0	0	0	1	0	12	40				
CUL9	23113	broad.mit.edu	37	6	43155466	43155466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43155466G>A	ENST00000252050.4	+	7	1681	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	CUL9_ENST00000372647.2_Missense_Mutation_p.A533T|CUL9_ENST00000354495.3_Missense_Mutation_p.A423T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	533					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						GGGTGAAAAGGCCCTAGGTGA	0.517																																						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.(1597-1599)Gcc>Acc		cullin 9							139.0	146.0	144.0					6																	43155466		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.chr6:43155466G>A	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.1597G>A	6.37:g.43155466G>A	ENSP00000252050:p.Ala533Thr					CUL9_ENST00000354495.3_Missense_Mutation_p.A423T|CUL9_ENST00000372647.2_Missense_Mutation_p.A533T	p.A533T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			7	1681	+			533					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.1597G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899556	0.33535	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73681	-0.77;-0.71;-0.67	5.61	2.82	0.32997	.	0.786770	0.12384	N	0.473642	T	0.49321	0.1550	L	0.50333	1.59	0.36224	D	0.852169	B;B;B	0.12630	0.004;0.004;0.006	B;B;B	0.10450	0.002;0.002;0.005	T	0.34030	-0.9845	10	0.40728	T	0.16	-7.4482	7.3	0.26415	0.1366:0.0:0.7271:0.1363	.	533;533;533	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	T	533;423;533	ENSP00000252050:A533T;ENSP00000346490:A423T;ENSP00000361730:A533T	ENSP00000252050:A533T	A	+	1	0	CUL9	43263444	0.001000	0.12720	0.336000	0.25522	0.711000	0.40976	0.341000	0.19909	0.292000	0.22492	0.467000	0.42956	GCC		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		14	614	0	0	0	1	0	14	614				
SFSWAP	6433	broad.mit.edu	37	12	132198648	132198648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132198648C>A	ENST00000261674.4	+	2	392	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	SFSWAP_ENST00000541286.1_Missense_Mutation_p.S84Y	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	84					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CATGACCTTTCTGAGTACGAT	0.458																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(250-252)tCt>tAt		splicing factor, suppressor of white-apricot homolog (Drosophila)							122.0	106.0	112.0					12																	132198648		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132198648C>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.251C>A	12.37:g.132198648C>A	ENSP00000261674:p.Ser84Tyr					SFSWAP_ENST00000541286.1_Missense_Mutation_p.S84Y	p.S84Y	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			2	392	+			84					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.251C>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320295	0.81469	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000541286	T;T	0.24538	1.85;1.85	5.95	5.95	0.96441	Splicing factor, suppressor of white apricot (1);	0.111039	0.64402	D	0.000005	T	0.39572	0.1083	L	0.46614	1.455	0.80722	D	1	P;P	0.46064	0.845;0.872	P;P	0.50970	0.6;0.655	T	0.04041	-1.0982	10	0.66056	D	0.02	-24.633	20.3932	0.98965	0.0:1.0:0.0:0.0	.	84;84	F5H6B8;Q12872	.;SFSWA_HUMAN	Y	84;21;84	ENSP00000261674:S84Y;ENSP00000437738:S84Y	ENSP00000261674:S84Y	S	+	2	0	SFSWAP	130764601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.703000	0.84585	2.824000	0.97209	0.655000	0.94253	TCT		0.458	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		9	293	1	0	2.17888e-05	1	2.22852e-05	9	293				
NOTCH2	4853	broad.mit.edu	37	1	120466323	120466323	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120466323G>T	ENST00000256646.2	-	26	5015	c.4796C>A	c.(4795-4797)gCt>gAt	p.A1599D	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1599	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTTCATAGCAGCTGACTT	0.517			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4795-4797)gCt>gAt		notch 2							105.0	100.0	102.0					1																	120466323		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120466323G>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4796C>A	1.37:g.120466323G>T	ENSP00000256646:p.Ala1599Asp					NOTCH2_ENST00000493703.1_5'UTR	p.A1599D	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	26	5015	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1599			Negative regulatory region (NRR).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4796C>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807633	0.16467	.	.	ENSG00000134250	ENST00000256646	D	0.81821	-1.54	6.08	5.17	0.71159	.	0.201896	0.24298	U	0.039751	T	0.57858	0.2082	L	0.55481	1.735	0.38961	D	0.958543	P	0.43477	0.808	B	0.33690	0.168	T	0.61282	-0.7094	10	0.13853	T	0.58	.	12.4833	0.55856	0.0772:0.0:0.9228:0.0	.	1599	Q04721	NOTC2_HUMAN	D	1599	ENSP00000256646:A1599D	ENSP00000256646:A1599D	A	-	2	0	NOTCH2	120267846	0.980000	0.34600	0.774000	0.31636	0.969000	0.65631	3.271000	0.51608	1.597000	0.50072	0.655000	0.94253	GCT		0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		41	373	1	0	4.10826e-27	1	4.75084e-27	41	373				
KIF26B	55083	broad.mit.edu	37	1	245850356	245850356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850356C>T	ENST00000407071.2	+	12	4511	c.4071C>T	c.(4069-4071)atC>atT	p.I1357I	KIF26B_ENST00000366518.4_Silent_p.I976I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1357					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCCCCCATCAAAGGCTGCA	0.542																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2926-2928)atC>atT		kinesin family member 26B							59.0	64.0	62.0					1																	245850356		2054	4196	6250	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850356C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4071C>T	1.37:g.245850356C>T						KIF26B_ENST00000407071.2_Silent_p.I1357I	p.I976I			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	3032	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1357					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2928C>T	CCDS44342.1																																																																																				0.542	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		30	111	0	0	0	1	0	30	111				
PEX5	5830	broad.mit.edu	37	12	7361053	7361053	+	Splice_Site	SNP	G	G	T	rs199624284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7361053G>T	ENST00000455147.2	+	14	1762	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	PEX5_ENST00000420616.2_Splice_Site_p.R394S|PEX5_ENST00000434354.2_Splice_Site_p.R409S|PEX5_ENST00000266563.5_Splice_Site_p.R357S|PEX5_ENST00000412720.2_Splice_Site_p.R415S|PEX5_ENST00000266564.3_Splice_Site_p.R386S	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	394					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GATCAAACAGGTGTCTGGAGC	0.537																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.e12-1		peroxisomal biogenesis factor 5							39.0	34.0	36.0					12																	7361053		2203	4300	6503	SO:0001630	splice_region_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7361053G>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1182-1G>T	12.37:g.7361053G>T						PEX5_ENST00000420616.2_Splice_Site_p.R394_splice|PEX5_ENST00000412720.2_Splice_Site_p.R415_splice|PEX5_ENST00000434354.2_Splice_Site_p.R409_splice|PEX5_ENST00000455147.2_Splice_Site_p.R394_splice|PEX5_ENST00000266564.3_Splice_Site_p.R386_splice	p.R357_splice	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			12	1254	+			394					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Splice_Site	SNP	ENST00000455147.2	37	c.1070_splice	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078261	0.55753	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.31	3.46	0.39613	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.048768	0.85682	D	0.000000	T	0.71626	0.3362	M	0.88979	2.995	0.58432	D	0.999998	P;B;P;B;D	0.67145	0.739;0.341;0.914;0.389;0.996	B;B;P;B;P	0.54140	0.299;0.163;0.729;0.193;0.743	T	0.77319	-0.2632	9	.	.	.	.	11.6969	0.51548	0.1455:0.0:0.8545:0.0	.	415;409;394;386;357	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	S	394;357;409;394;415;364;386	ENSP00000400647:R394S;ENSP00000266563:R357S;ENSP00000407401:R409S;ENSP00000410159:R394S;ENSP00000391601:R415S;ENSP00000379877:R364S;ENSP00000266564:R386S	.	R	+	3	2	PEX5	7252320	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.295000	0.51794	1.233000	0.43693	0.591000	0.81541	AGG		0.537	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	Missense_Mutation	28	130	1	0	1.77063e-15	1	1.9355e-15	28	130				
SNHG14	104472715	broad.mit.edu	37	15	25440072	25440072	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25440072C>T	ENST00000424208.1	+	0	1460				SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-14_ENST00000363090.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGTTGGGTCGATGATGAGA	0.522																																						ENST00000424208.1																			0																				285.0	292.0	290.0					15																	25440072		876	1991	2867			0							g.chr15:25440072C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25440072C>T						SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA		NR_003305.1						0	1460	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.522	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			224	1065	0	0	0	1	0	224	1065				
MIR513A1	574509	broad.mit.edu	37	X	146295005	146295005	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:146295005C>A	ENST00000385138.1	-	0	104					NR_030231.1				microRNA 513a-1																		gcagtgcatgctgtacattac	0.488																																						ENST00000385138.1																			0																				120.0	95.0	103.0					X																	146295005		1568	3562	5130			0							g.chrX:146295005C>A			Xq27.3	2011-09-12	2008-01-07	2008-12-18	ENSG00000207873	ENSG00000207873		"""ncRNAs / Micro RNAs"""	32141	non-coding RNA	RNA, micro			"""microRNA 513-1"""	MIRN513-1, MIRN513A1			Standard	NR_030231		Approved	hsa-mir-513-1, hsa-mir-513a-1					X.37:g.146295005C>A								NR_030231.1						0	104	-									RNA	SNP	ENST00000385138.1	37																																																																																						0.488	MIR513A1-201	KNOWN	basic	miRNA	miRNA		NR_030231		51	210	1	0	1.27862e-28	1	1.48942e-28	51	210				
CCDC37	348807	broad.mit.edu	37	3	126138953	126138953	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138953G>T	ENST00000352312.1	+	11	1062	c.963G>T	c.(961-963)caG>caT	p.Q321H	CCDC37_ENST00000393425.1_Missense_Mutation_p.Q322H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	321										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGAGGGTCAGGGTACAAAGA	0.642																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(964-966)caG>caT		coiled-coil domain containing 37							30.0	30.0	30.0					3																	126138953		2203	4299	6502	SO:0001583	missense	348807							g.chr3:126138953G>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.963G>T	3.37:g.126138953G>T	ENSP00000344749:p.Gln321His					CCDC37_ENST00000352312.1_Missense_Mutation_p.Q321H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H	p.Q322H			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	11	1065	+			321					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.966G>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562646	0.13498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32753	1.44;1.44;1.44	3.37	-2.18	0.07037	.	1.302360	0.05056	N	0.479042	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	1	B;B	0.32425	0.371;0.254	B;B	0.24701	0.055;0.025	T	0.16867	-1.0388	10	0.46703	T	0.11	-3.6099	3.9837	0.09506	0.3427:0.3519:0.3054:0.0	.	322;321	Q494V2-2;Q494V2	.;CCD37_HUMAN	H	321;322;322	ENSP00000344749:Q321H;ENSP00000377076:Q322H;ENSP00000423046:Q322H	ENSP00000344749:Q321H	Q	+	3	2	CCDC37	127621643	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.407000	0.07178	-0.500000	0.06614	0.491000	0.48974	CAG		0.642	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		40	141	1	0	2.19358e-23	1	2.49351e-23	40	141				
ENDOV	284131	broad.mit.edu	37	17	78398856	78398856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78398856G>A	ENST00000518137.1	+	6	569	c.541G>A	c.(541-543)Gac>Aac	p.D181N	ENDOV_ENST00000517795.1_5'UTR|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518907.1_5'UTR|ENDOV_ENST00000520367.1_Missense_Mutation_p.D136N|ENDOV_ENST00000520284.1_5'UTR|ENDOV_ENST00000517295.2_Missense_Mutation_p.D98N|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.D136N	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	181					DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GACTCGAGGAGACTCATTCCC	0.537								Direct reversal of damage																														ENST00000518137.1																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(541-543)Gac>Aac	Direct reversal of damage	endonuclease V							51.0	51.0	51.0					17																	78398856		1917	4119	6036	SO:0001583	missense	284131				DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	g.chr17:78398856G>A		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.541G>A	17.37:g.78398856G>A	ENSP00000429190:p.Asp181Asn					ENDOV_ENST00000520367.1_Missense_Mutation_p.D136N|ENDOV_ENST00000517295.2_Missense_Mutation_p.D98N|ENDOV_ENST00000517795.1_5'UTR|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518907.1_5'UTR|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000520284.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.D136N	p.D181N	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN			6	569	+			181					I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	c.541G>A	CCDS54172.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089188	0.36855	.	.	ENSG00000173818	ENST00000518137;ENST00000520367;ENST00000323854;ENST00000517295	T;T;T	0.16597	2.33;2.33;2.33	4.2	4.2	0.49525	.	0.176975	0.47852	D	0.000208	T	0.22475	0.0542	M	0.67569	2.06	0.41759	D	0.989707	B;B;B	0.28082	0.007;0.019;0.2	B;B;B	0.31290	0.084;0.034;0.127	T	0.05599	-1.0875	10	0.41790	T	0.15	-13.8738	14.4854	0.67614	0.0:0.0:1.0:0.0	.	181;136;136	Q8N8Q3;Q8N8Q3-2;Q8N8Q3-3	ENDOV_HUMAN;.;.	N	181;136;136;156	ENSP00000429190:D181N;ENSP00000431036:D136N;ENSP00000317810:D136N	ENSP00000317810:D136N	D	+	1	0	ENDOV	76013451	1.000000	0.71417	0.455000	0.27031	0.064000	0.16182	7.642000	0.83385	2.149000	0.67028	0.457000	0.33378	GAC		0.537	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379487.1	NM_173627		18	76	0	0	0	1	0	18	76				
ACO1	48	broad.mit.edu	37	9	32418495	32418495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32418495G>A	ENST00000309951.6	+	6	782	c.644G>A	c.(643-645)gGc>gAc	p.G215D	ACO1_ENST00000541043.1_Missense_Mutation_p.G116D|ACO1_ENST00000379923.1_Missense_Mutation_p.G215D	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	215					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GATGGCTTGGGCATTCTTGGT	0.418																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(643-645)gGc>gAc		aconitase 1, soluble							177.0	162.0	167.0					9																	32418495		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32418495G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.644G>A	9.37:g.32418495G>A	ENSP00000309477:p.Gly215Asp					ACO1_ENST00000541043.1_Missense_Mutation_p.G116D|ACO1_ENST00000309951.5_Missense_Mutation_p.G215D	p.G215D	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	7	850	+			215					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.644G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966788	0.92855	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.61274	0.12;0.12;0.12	5.79	5.79	0.91817	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93025	0.6443	10	0.87932	D	0	-2.4516	18.8212	0.92097	0.0:0.0:1.0:0.0	.	251;215	Q59FI0;P21399	.;ACOC_HUMAN	D	251;215;215;215;116	ENSP00000309477:G215D;ENSP00000369255:G215D;ENSP00000438733:G116D	ENSP00000309477:G215D	G	+	2	0	ACO1	32408495	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	9.808000	0.99193	2.753000	0.94483	0.557000	0.71058	GGC		0.418	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		19	734	0	0	0	1	0	19	734				
LAMA3	3909	broad.mit.edu	37	18	21496608	21496608	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21496608G>T	ENST00000313654.9	+	60	8113	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2624	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCTTTGGACAGACAATTCAGA	0.428																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7870-7872)caG>caT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						172.0	147.0	155.0					18																	21496608		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21496608G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7872G>T	18.37:g.21496608G>T	ENSP00000324532:p.Gln2624His					LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H	p.Q2624H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			60	8113	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2624			Laminin G-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.7872G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391060	0.62066	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79033	-1.23;-1.23;-1.23	5.76	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.82121	0.4968	M	0.65975	2.015	0.37623	D	0.921377	D;D;D;D	0.71674	0.965;0.965;0.992;0.998	P;P;P;P	0.58391	0.708;0.708;0.789;0.838	T	0.82168	-0.0591	9	0.66056	D	0.02	.	9.6372	0.39817	0.3361:0.0:0.6639:0.0	.	959;1015;2568;2624	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	H	2624;2568;1015	ENSP00000324532:Q2624H;ENSP00000382432:Q2568H;ENSP00000269217:Q1015H	ENSP00000269217:Q1015H	Q	+	3	2	LAMA3	19750606	0.990000	0.36364	0.056000	0.19401	0.835000	0.47333	1.937000	0.40193	0.098000	0.17522	-0.266000	0.10368	CAG		0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		28	695	1	0	9.80776e-20	1	1.0954e-19	28	695				
CCKBR	887	broad.mit.edu	37	11	6291537	6291537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291537G>A	ENST00000334619.2	+	3	816	c.623G>A	c.(622-624)cGc>cAc	p.R208H	CCKBR_ENST00000532715.1_Missense_Mutation_p.R124H|CCKBR_ENST00000525462.1_Missense_Mutation_p.R208H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	208					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCGTGCATCGCTGGCCCAGT	0.582																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(622-624)cGc>cAc		cholecystokinin B receptor	Pentagastrin(DB00183)						85.0	84.0	85.0					11																	6291537		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291537G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.623G>A	11.37:g.6291537G>A	ENSP00000335544:p.Arg208His					CCKBR_ENST00000334619.2_Missense_Mutation_p.R208H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R124H	p.R208H			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	626	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	168					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.623G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977410	0.34848	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.36878	1.23;1.23;1.23	5.33	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.432805	0.25419	N	0.030803	T	0.17152	0.0412	N	0.25144	0.715	0.27775	N	0.943357	P;B;B	0.35612	0.512;0.0;0.002	B;B;B	0.19391	0.025;0.001;0.005	T	0.09997	-1.0649	10	0.37606	T	0.19	.	5.406	0.16323	0.0804:0.1431:0.6287:0.1478	.	208;142;208	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	H	208;124;208	ENSP00000335544:R208H;ENSP00000432079:R124H;ENSP00000435534:R208H	ENSP00000335544:R208H	R	+	2	0	CCKBR	6248113	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.021000	0.12504	1.228000	0.43614	0.655000	0.94253	CGC		0.582	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		12	755	0	0	0	1	0	12	755				
SKA3	221150	broad.mit.edu	37	13	21732194	21732194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21732194G>A	ENST00000314759.5	-	7	1110	c.986C>T	c.(985-987)tCg>tTg	p.S329L	SKA3_ENST00000400018.3_Missense_Mutation_p.S329L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	329					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAAAACCAACGAAGTACGATC	0.333																																						ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(985-987)tCg>tTg		spindle and kinetochore associated complex subunit 3							112.0	120.0	118.0					13																	21732194		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21732194G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.986C>T	13.37:g.21732194G>A	ENSP00000319417:p.Ser329Leu					SKA3_ENST00000400018.3_Missense_Mutation_p.S329L	p.S329L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			7	1110	-			329					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.986C>T	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440333	0.43326	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.28454	1.62;1.61	5.98	5.98	0.97165	.	0.247257	0.39274	N	0.001409	T	0.48537	0.1505	L	0.47716	1.5	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.917;0.939	T	0.37753	-0.9692	10	0.49607	T	0.09	-1.2477	17.1559	0.86791	0.0:0.0:1.0:0.0	.	329;329	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	L	329	ENSP00000319417:S329L;ENSP00000382896:S329L	ENSP00000319417:S329L	S	-	2	0	SKA3	20630194	0.561000	0.26578	0.010000	0.14722	0.026000	0.11368	3.939000	0.56591	2.837000	0.97791	0.591000	0.81541	TCG		0.333	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		48	469	0	0	0	1	0	48	469				
MRC2	9902	broad.mit.edu	37	17	60757183	60757183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60757183G>A	ENST00000303375.5	+	14	2620	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	740	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGAGATCCACGAGCAGCACTG	0.632																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2218-2220)Gag>Aag		mannose receptor, C type 2							54.0	45.0	48.0					17																	60757183		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60757183G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2218G>A	17.37:g.60757183G>A	ENSP00000307513:p.Glu740Lys						p.E740K	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			14	2620	+			740			C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2218G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562535	0.86335	.	.	ENSG00000011028	ENST00000303375	T	0.18960	2.18	4.46	4.46	0.54185	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16217	-1.0410	10	0.16420	T	0.52	-27.2539	16.9236	0.86169	0.0:0.0:1.0:0.0	.	740	Q9UBG0	MRC2_HUMAN	K	740	ENSP00000307513:E740K	ENSP00000307513:E740K	E	+	1	0	MRC2	58110915	1.000000	0.71417	0.990000	0.47175	0.362000	0.29581	7.222000	0.78025	2.310000	0.77875	0.305000	0.20034	GAG		0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			36	115	0	0	0	1	0	36	115				
MSGN1	343930	broad.mit.edu	37	2	17998000	17998000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998000G>T	ENST00000281047.3	+	1	238	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	72					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGAGCACGGCGGGGCCAGC	0.622																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(214-216)gGc>gTc		mesogenin 1							39.0	46.0	44.0					2																	17998000		1926	4114	6040	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998000G>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.215G>T	2.37:g.17998000G>T	ENSP00000281047:p.Gly72Val						p.G72V	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	238	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		72						Missense_Mutation	SNP	ENST00000281047.3	37	c.215G>T	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266048	0.10294	.	.	ENSG00000151379	ENST00000281047	T	0.16196	2.36	5.25	2.36	0.29203	.	0.451160	0.23656	N	0.045876	T	0.14184	0.0343	L	0.43152	1.355	0.18873	N	0.999986	B	0.29085	0.232	B	0.32533	0.147	T	0.22765	-1.0207	10	0.26408	T	0.33	-4.4513	8.327	0.32162	0.2753:0.0:0.7247:0.0	.	72	A6NI15	MSGN1_HUMAN	V	72	ENSP00000281047:G72V	ENSP00000281047:G72V	G	+	2	0	MSGN1	17861481	0.002000	0.14202	0.000000	0.03702	0.058000	0.15608	1.157000	0.31724	0.316000	0.23135	-0.345000	0.07892	GGC		0.622	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		93	440	1	0	3.77759e-48	1	4.65876e-48	93	440				
ZNF333	84449	broad.mit.edu	37	19	14806443	14806443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14806443G>T	ENST00000292530.6	+	4	284	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*|ZNF333_ENST00000601134.1_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	65	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AAAGGCAACAGAACGAGGGAT	0.572																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(193-195)Gaa>Taa		zinc finger protein 333							119.0	96.0	104.0					19																	14806443		2203	4300	6503	SO:0001587	stop_gained	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14806443G>T		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.193G>T	19.37:g.14806443G>T	ENSP00000292530:p.Glu65*					ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000536363.1_5'UTR	p.E65*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			4	284	+			65			KRAB 1.		Q6P2E6|Q86WS6|Q8TDL0	Nonsense_Mutation	SNP	ENST00000292530.6	37	c.193G>T	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891555	0.52014	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	.	.	.	2.47	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	5.2459	0.15496	0.1732:0.0:0.8268:0.0	.	.	.	.	X	65	.	ENSP00000292530:E65X	E	+	1	0	ZNF333	14667443	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.527000	0.22987	0.394000	0.25230	-0.350000	0.07774	GAA		0.572	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		33	167	1	0	1.62565e-12	1	1.74646e-12	33	167				
FAT4	79633	broad.mit.edu	37	4	126240358	126240358	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240358G>T	ENST00000394329.3	+	1	2805	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	931	Cadherin 9. {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						GTACTCTATAGTCTGAAGCAA	0.473																																						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.(2791-2793)aGt>aTt		FAT atypical cadherin 4							58.0	61.0	60.0					4																	126240358		1944	4150	6094	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240358G>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.2792G>T	4.37:g.126240358G>T	ENSP00000377862:p.Ser931Ile						p.S931I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2805	+			931			Cadherin 9.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2792G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595127	0.46318	.	.	ENSG00000196159	ENST00000394329	T	0.02656	4.21	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.40554	U	0.001073	T	0.17066	0.0410	M	0.81341	2.54	0.80722	D	1	P	0.48230	0.907	D	0.65684	0.937	T	0.00143	-1.1996	10	0.37606	T	0.19	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	931	Q6V0I7	FAT4_HUMAN	I	931	ENSP00000377862:S931I	ENSP00000377862:S931I	S	+	2	0	FAT4	126459808	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.682000	0.84083	2.652000	0.90054	0.655000	0.94253	AGT		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	189	1	0	4.0181e-32	1	4.74151e-32	45	189				
BIRC6	57448	broad.mit.edu	37	2	32740700	32740700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32740700G>A	ENST00000421745.2	+	55	11346	c.11212G>A	c.(11212-11214)Gca>Aca	p.A3738T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3738					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGACCAGTGCAAGATCAGC	0.448																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(11212-11214)Gca>Aca		baculoviral IAP repeat containing 6							101.0	94.0	96.0					2																	32740700		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740700G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11212G>A	2.37:g.32740700G>A	ENSP00000393596:p.Ala3738Thr						p.A3738T	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			55	11346	+	Acute lymphoblastic leukemia(172;0.155)		3738					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11212G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.777582	0.00640	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.5	-1.67	0.08238	.	0.665993	0.14546	N	0.312976	T	0.58708	0.2141	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	10	0.24483	T	0.36	.	6.0668	0.19868	0.4489:0.0:0.4343:0.1168	.	3738	Q9NR09	BIRC6_HUMAN	T	3738	ENSP00000393596:A3738T	ENSP00000393596:A3738T	A	+	1	0	BIRC6	32594204	0.999000	0.42202	0.016000	0.15963	0.164000	0.22412	0.596000	0.24044	-0.365000	0.08076	-0.224000	0.12420	GCA		0.448	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		55	350	0	0	0	1	0	55	350				
HERC2	8924	broad.mit.edu	37	15	28473421	28473421	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28473421C>T	ENST00000261609.7	-	35	5515	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAGAAGGTCGAGGTTGTTT	0.612																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(5407-5409)Gac>Aac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							80.0	61.0	67.0					15																	28473421		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28473421C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5407G>A	15.37:g.28473421C>T	ENSP00000261609:p.Asp1803Asn						p.D1803N	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	35	5515	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1803						Missense_Mutation	SNP	ENST00000261609.7	37	c.5407G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	2.286	-0.363679	0.05103	.	.	ENSG00000128731	ENST00000261609	T	0.37411	1.2	4.21	0.74	0.18330	.	0.334862	0.33875	N	0.004471	T	0.10208	0.0250	N	0.02011	-0.69	0.27090	N	0.962869	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.05525	T	0.97	.	7.4641	0.27312	0.0:0.2304:0.0:0.7696	.	1803	O95714	HERC2_HUMAN	N	1803	ENSP00000261609:D1803N	ENSP00000261609:D1803N	D	-	1	0	HERC2	26147016	1.000000	0.71417	0.888000	0.34837	0.289000	0.27227	2.211000	0.42825	0.065000	0.16485	-0.234000	0.12200	GAC		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		15	209	0	0	0	1	0	15	209				
OTP	23440	broad.mit.edu	37	5	76933016	76933016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76933016G>A	ENST00000306422.3	-	2	1215	c.77C>T	c.(76-78)gCg>gTg	p.A26V	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	26					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		ACACTTCACCGCCTCCCGGTG	0.677																																						ENST00000306422.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13						c.(76-78)gCg>gTg		orthopedia homeobox							5.0	6.0	6.0					5																	76933016		2143	4209	6352	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76933016G>A		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.77C>T	5.37:g.76933016G>A	ENSP00000302814:p.Ala26Val						p.A26V	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	1215	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	26						Missense_Mutation	SNP	ENST00000306422.3	37	c.77C>T	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	36	5.815738	0.96982	.	.	ENSG00000171540	ENST00000306422	D	0.92348	-3.02	5.46	5.46	0.80206	.	0.063719	0.64402	D	0.000009	D	0.91202	0.7228	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.52189	0.692	D	0.92173	0.5745	10	0.66056	D	0.02	.	19.2874	0.94084	0.0:0.0:1.0:0.0	.	26	Q5XKR4	OTP_HUMAN	V	26	ENSP00000302814:A26V	ENSP00000302814:A26V	A	-	2	0	OTP	76968772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.218000	0.95166	2.732000	0.93576	0.655000	0.94253	GCG		0.677	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			6	43	0	0	0	1	0	6	43				
PCDHB12	56124	broad.mit.edu	37	5	140590474	140590474	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590474C>A	ENST00000239450.2	+	1	2184	c.1995C>A	c.(1993-1995)ggC>ggA	p.G665G	PCDHB12_ENST00000541609.1_Silent_p.G328G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	665	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGACGGCTTCTCCCAGC	0.706																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1993-1995)ggC>ggA									32.0	36.0	35.0					5																	140590474		2169	4238	6407	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590474C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1995C>A	5.37:g.140590474C>A						PCDHB12_ENST00000541609.1_Silent_p.G328G	p.G665G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2184	+			665			Cadherin 6.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1995C>A	CCDS4254.1																																																																																				0.706	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		134	589	1	0	7.51503e-75	1	9.57856e-75	134	589				
SNIP1	79753	broad.mit.edu	37	1	38003439	38003439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38003439G>A	ENST00000296215.6	-	4	1173	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	367					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGAGCAAGACGTATTCTCTGC	0.418																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(1099-1101)taC>taT		Smad nuclear interacting protein 1							275.0	245.0	255.0					1																	38003439		2203	4300	6503	SO:0001819	synonymous_variant	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003439G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1101C>T	1.37:g.38003439G>A							p.Y367Y	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			4	1173	-		Myeloproliferative disorder(586;0.0393)	367					Q96SP9|Q9H9T7	Silent	SNP	ENST00000296215.6	37	c.1101C>T	CCDS419.1																																																																																				0.418	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		108	411	0	0	0	1	0	108	411				
MEIOB	254528	broad.mit.edu	37	16	1903110	1903110	+	Missense_Mutation	SNP	T	T	C	rs370304721		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1903110T>C	ENST00000397344.3	-	9	902	c.708A>G	c.(706-708)atA>atG	p.I236M	MEIOB_ENST00000470044.1_Missense_Mutation_p.I29M|MEIOB_ENST00000452149.2_Missense_Mutation_p.I236M|MEIOB_ENST00000325962.3_Missense_Mutation_p.I236M|MEIOB_ENST00000412554.2_Missense_Mutation_p.I236M	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	236					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										TGTCAAAATTTATTCTTACAT	0.303																																						ENST00000412554.2																			0											c.(706-708)atA>atG		meiosis specific with OB domains		T	MET/ILE,MET/ILE	0,4396		0,0,2198	55.0	53.0	54.0		708,708	5.8	1.0	16		54	1,8593		0,1,4296	no	missense,missense	C16orf73	NM_001163560.2,NM_152764.2	10,10	0,1,6494	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	236/472,236/443	1903110	1,12989	2198	4297	6495	SO:0001583	missense	254528							g.chr16:1903110T>C	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.708A>G	16.37:g.1903110T>C	ENSP00000380504:p.Ile236Met					MEIOB_ENST00000452149.2_Missense_Mutation_p.I236M|MEIOB_ENST00000397344.3_Missense_Mutation_p.I236M|MEIOB_ENST00000325962.3_Missense_Mutation_p.I236M|MEIOB_ENST00000470044.1_Missense_Mutation_p.I29M	p.I236M	NM_001163560.2	NP_001157032.1					9	902	-								B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	c.708A>G	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006293	0.35415	0.0	1.16E-4	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.78	5.78	0.91487	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.106857	0.64402	D	0.000008	T	0.18467	0.0443	L	0.55103	1.725	0.39720	D	0.971455	P;D	0.54601	0.51;0.967	B;P	0.53593	0.228;0.73	T	0.01537	-1.1330	10	0.54805	T	0.06	.	7.8313	0.29344	0.1358:0.0:0.1416:0.7226	.	236;236	C9J0S1;Q8N635	.;CP073_HUMAN	M	236	ENSP00000390778:I236M;ENSP00000391033:I236M;ENSP00000314484:I236M;ENSP00000380504:I236M	ENSP00000314484:I236M	I	-	3	3	C16orf73	1843111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.485000	0.22324	2.204000	0.70986	0.528000	0.53228	ATA		0.303	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		36	139	0	0	0	1	0	36	139				
KMT2D	8085	broad.mit.edu	37	12	49420396	49420396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420396G>A	ENST00000301067.7	-	48	15352	c.15353C>T	c.(15352-15354)gCc>gTc	p.A5118V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5118					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCACGGATGGCACAAGCAAA	0.542																																						ENST00000301067.7																			0											c.(15352-15354)gCc>gTc		lysine (K)-specific methyltransferase 2D							79.0	80.0	80.0					12																	49420396		2156	4248	6404	SO:0001583	missense	8085							g.chr12:49420396G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15353C>T	12.37:g.49420396G>A	ENSP00000301067:p.Ala5118Val						p.A5118V	NM_003482.3	NP_003473.3					48	15352	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15353C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765300	0.49574	.	.	ENSG00000167548	ENST00000301067	T	0.75589	-0.95	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.36591	N	0.002511	D	0.89012	0.6594	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91662	0.5343	10	0.87932	D	0	.	16.9322	0.86193	0.0:0.0:1.0:0.0	.	5118	O14686	MLL2_HUMAN	V	5118	ENSP00000301067:A5118V	ENSP00000301067:A5118V	A	-	2	0	MLL2	47706663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.377000	0.81083	0.561000	0.74099	GCC		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			74	316	0	0	0	1	0	74	316				
PLXNB1	5364	broad.mit.edu	37	3	48454198	48454198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48454198G>T	ENST00000358536.4	-	25	5076	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1603					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGCCCCAGCCCTTGCTCC	0.647																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4807-4809)Ctg>Atg		plexin B1							38.0	42.0	41.0					3																	48454198		2202	4300	6502	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48454198G>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4807C>A	3.37:g.48454198G>T	ENSP00000351338:p.Leu1603Met					PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M	p.L1603M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	25	5076	-			1603					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4807C>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339755	0.60963	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	4.11	3.23	0.37069	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.177773	0.38381	N	0.001713	T	0.33000	0.0848	L	0.50919	1.6	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05178	-1.0901	10	0.36615	T	0.2	.	5.5039	0.16844	0.3324:0.0:0.6676:0.0	.	1603;1420	O43157;O43157-2	PLXB1_HUMAN;.	M	1603;1420;1603;214;1420	ENSP00000296440:L1603M;ENSP00000351242:L1420M;ENSP00000351338:L1603M;ENSP00000389320:L214M;ENSP00000414199:L1420M	ENSP00000296440:L1603M	L	-	1	2	PLXNB1	48429202	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.458000	0.45014	1.064000	0.40671	0.551000	0.68910	CTG		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		51	234	1	0	1.83081e-24	1	2.09304e-24	51	234				
RAB9A	9367	broad.mit.edu	37	X	13727191	13727191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727191C>T	ENST00000464506.1	+	3	605	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	109					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATATATTATGCAGATGTGAAA	0.418																																						ENST00000464506.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(325-327)gCa>gTa		RAB9A, member RAS oncogene family							97.0	96.0	96.0					X																	13727191		2202	4300	6502	SO:0001583	missense	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727191C>T	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.326C>T	X.37:g.13727191C>T	ENSP00000420127:p.Ala109Val					RAB9A_ENST00000243325.5_3'UTR	p.A109V	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN			3	605	+			109					A8K390|Q6ICN1	Missense_Mutation	SNP	ENST00000464506.1	37	c.326C>T	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425573	0.83667	.	.	ENSG00000123595	ENST00000464506	T	0.77358	-1.09	5.42	4.52	0.55395	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.83103	-0.0127	9	.	.	.	-3.5585	14.6906	0.69083	0.1455:0.8545:0.0:0.0	.	109	P51151	RAB9A_HUMAN	V	109	ENSP00000420127:A109V	.	A	+	2	0	RAB9A	13637112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.257000	0.74773	0.594000	0.82650	GCA		0.418	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		149	597	0	0	0	1	0	149	597				
REPS1	85021	broad.mit.edu	37	6	139237004	139237004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139237004C>A	ENST00000450536.2	-	14	2285	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	REPS1_ENST00000415951.2_Missense_Mutation_p.V544F|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000258062.5_Missense_Mutation_p.V570F|REPS1_ENST00000367663.4_Missense_Mutation_p.V544F			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	571	Pro-rich.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CCTGTGGTGACTGTAAAGGTC	0.398																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(1711-1713)Gtc>Ttc		RALBP1 associated Eps domain containing 1							114.0	106.0	109.0					6																	139237004		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139237004C>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1711G>T	6.37:g.139237004C>A	ENSP00000392065:p.Val571Phe					REPS1_ENST00000415951.2_Missense_Mutation_p.V544F|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000258062.5_Missense_Mutation_p.V570F|REPS1_ENST00000367663.4_Missense_Mutation_p.V544F	p.V571F			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	14	2285	-			571			Pro-rich.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.1711G>T		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694080	0.68386	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.31769	1.5;1.49;1.48;1.5;1.51	5.96	5.96	0.96718	.	0.055755	0.64402	D	0.000001	T	0.16471	0.0396	L	0.33485	1.01	0.51233	D	0.999911	P;P;P;P	0.43477	0.773;0.716;0.664;0.808	B;B;B;B	0.40534	0.332;0.232;0.178;0.312	T	0.01500	-1.1339	10	0.52906	T	0.07	-8.3031	14.5539	0.68086	0.0:0.9307:0.0:0.0693	.	570;519;571;544	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	F	571;544;529;570;544;519	ENSP00000392065:V571F;ENSP00000356635:V544F;ENSP00000434251:V529F;ENSP00000258062:V570F;ENSP00000397941:V544F	ENSP00000258062:V570F	V	-	1	0	REPS1	139278697	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	5.398000	0.66308	2.832000	0.97577	0.655000	0.94253	GTC		0.398	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			74	321	1	0	2.93416e-43	1	3.58019e-43	74	321				
CIC	23152	broad.mit.edu	37	19	42792029	42792029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42792029G>A	ENST00000575354.2	+	6	873	c.833G>A	c.(832-834)aGc>aAc	p.S278N	CIC_ENST00000572681.2_Missense_Mutation_p.S1187N|CIC_ENST00000160740.3_Missense_Mutation_p.S278N	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGAAGTCCAGCTCAGAGGCC	0.647			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3559-3561)aGc>aAc		capicua transcriptional repressor							28.0	25.0	26.0					19																	42792029		2202	4300	6502	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42792029G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.833G>A	19.37:g.42792029G>A	ENSP00000458663:p.Ser278Asn					CIC_ENST00000160740.3_Missense_Mutation_p.S278N|CIC_ENST00000575354.2_Missense_Mutation_p.S278N	p.S1187N			Q96RK0	CIC_HUMAN			7	3628	+		Prostate(69;0.00682)	278			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3560G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620010	0.46736	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	High mobility group, HMG1/HMG2 (1);	.	.	.	.	T	0.68339	0.2990	L	0.55213	1.73	0.41738	D	0.989599	D	0.69078	0.997	P	0.60789	0.879	T	0.72747	-0.4200	8	0.87932	D	0	-12.7475	14.9544	0.71101	0.0:0.0:1.0:0.0	.	278	Q96RK0	CIC_HUMAN	N	278	.	ENSP00000160740:S278N	S	+	2	0	CIC	47483869	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.802000	0.62539	2.391000	0.81399	0.555000	0.69702	AGC		0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	84	0	0	0	1	0	6	84				
CSF3R	1441	broad.mit.edu	37	1	36939383	36939383	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36939383A>G	ENST00000373106.1	-	5	1014	c.467T>C	c.(466-468)tTc>tCc	p.F156S	CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373103.1_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000487540.2_5'Flank	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	156	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTCAGAGTGAAGCTGGTGGG	0.602																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(466-468)tTc>tCc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						102.0	99.0	100.0					1																	36939383		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36939383A>G	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.467T>C	1.37:g.36939383A>G	ENSP00000362198:p.Phe156Ser					CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373106.1_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S	p.F156S	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			5	1014	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	156			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000373106.1	37	c.467T>C	CCDS413.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900556	0.72754	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.52	5.52	0.82312	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.585977	0.19347	N	0.116499	T	0.54631	0.1870	L	0.58428	1.81	0.39473	D	0.967753	D;D;D;D	0.89917	1.0;0.998;0.999;0.997	D;D;D;D	0.69654	0.965;0.927;0.931;0.917	T	0.55958	-0.8058	10	0.49607	T	0.09	-32.3395	13.3768	0.60743	1.0:0.0:0.0:0.0	.	156;156;156;156	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	S	156	ENSP00000362198:F156S;ENSP00000362196:F156S;ENSP00000362195:F156S;ENSP00000355406:F156S;ENSP00000332180:F156S;ENSP00000401588:F156S;ENSP00000345013:F156S;ENSP00000397568:F156S	ENSP00000332180:F156S	F	-	2	0	CSF3R	36711970	0.998000	0.40836	1.000000	0.80357	0.873000	0.50193	1.549000	0.36212	2.107000	0.64212	0.496000	0.49642	TTC		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		62	214	0	0	0	1	0	62	214				
YIPF2	78992	broad.mit.edu	37	19	11034607	11034607	+	Missense_Mutation	SNP	G	G	A	rs199946753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034607G>A	ENST00000586748.1	-	7	725	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W|YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	185						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						TTGCGCCACCGCAGGAAGCCC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18061	0.001		0.0	False		,,,				2504	0.0					ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(553-555)Cgg>Tgg		Yip1 domain family, member 2		G	TRP/ARG	0,4402		0,0,2201	43.0	45.0	44.0		553	-0.6	0.8	19		44	1,8595	1.2+/-3.3	0,1,4297	no	missense	YIPF2	NM_024029.3	101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	185/317	11034607	1,12997	2201	4298	6499	SO:0001583	missense	78992					integral to membrane|transport vesicle		g.chr19:11034607G>A	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.553C>T	19.37:g.11034607G>A	ENSP00000466055:p.Arg185Trp					YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W|YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W	p.R185W			Q9BWQ6	YIPF2_HUMAN			7	725	-			185						Missense_Mutation	SNP	ENST00000586748.1	37	c.553C>T	CCDS12251.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.131	0.392309	0.11638	0.0	1.16E-4	ENSG00000130733	ENST00000253031	T	0.42131	0.98	5.61	-0.627	0.11541	Yip1 domain (1);	0.597682	0.18008	N	0.154655	T	0.26955	0.0660	L	0.38649	1.16	0.29600	N	0.847729	B	0.14012	0.009	B	0.10450	0.005	T	0.13415	-1.0510	10	0.33940	T	0.23	.	6.4344	0.21815	0.1359:0.0:0.5008:0.3633	.	185	Q9BWQ6	YIPF2_HUMAN	W	185	ENSP00000253031:R185W	ENSP00000253031:R185W	R	-	1	2	YIPF2	10895607	0.997000	0.39634	0.828000	0.32881	0.011000	0.07611	2.581000	0.46077	0.054000	0.16065	-2.177000	0.00319	CGG		0.637	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		23	111	0	0	0	1	0	23	111				
HECTD4	283450	broad.mit.edu	37	12	112622084	112622084	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112622084G>T	ENST00000430131.2	-	60	10565	c.9420C>A	c.(9418-9420)gcC>gcA	p.A3140A	HECTD4_ENST00000377560.5_Silent_p.A3390A|HECTD4_ENST00000550722.1_Silent_p.A3416A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3140					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCGACACCGAGGCCGTCTCTG	0.652																																						ENST00000550722.1																			0											c.(10246-10248)gcC>gcA		HECT domain containing E3 ubiquitin protein ligase 4							51.0	59.0	57.0					12																	112622084		1980	4160	6140	SO:0001819	synonymous_variant	283450							g.chr12:112622084G>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9420C>A	12.37:g.112622084G>T						HECTD4_ENST00000377560.5_Silent_p.A3390A|HECTD4_ENST00000430131.2_Silent_p.A3140A	p.A3416A	NM_001109662.3	NP_001103132.3					61	10643	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10248C>A																																																																																					0.652	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		99	566	1	0	2.179e-33	1	2.58256e-33	99	566				
TARBP1	6894	broad.mit.edu	37	1	234603362	234603362	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234603362A>G	ENST00000040877.1	-	4	1133	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	378					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTATAAATACACATATGCC	0.353																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(1132-1134)tgT>tgC		TAR (HIV-1) RNA binding protein 1							76.0	77.0	77.0					1																	234603362		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234603362A>G		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1134T>C	1.37:g.234603362A>G							p.C378C	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		4	1133	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	378					Q9H581	Silent	SNP	ENST00000040877.1	37	c.1134T>C	CCDS1601.1																																																																																				0.353	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		48	152	0	0	0	1	0	48	152				
CCT7	10574	broad.mit.edu	37	2	73471724	73471724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73471724C>A	ENST00000258091.5	+	6	640	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	CCT7_ENST00000539919.1_Missense_Mutation_p.L123M|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	167					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GAGCTCCAAGCTGATCTCCCA	0.488																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(367-369)Ctg>Atg		chaperonin containing TCP1, subunit 7 (eta)							56.0	57.0	57.0					2																	73471724		2060	4214	6274	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73471724C>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.499C>A	2.37:g.73471724C>A	ENSP00000258091:p.Leu167Met					CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000258091.5_Missense_Mutation_p.L167M|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M	p.L123M	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			7	738	+			167					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.367C>A	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017429	0.75161	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	4.89	4.02	0.46733	.	0.149169	0.45867	D	0.000322	D	0.87034	0.6077	M	0.85542	2.76	0.80722	D	1	D;P;P;P;P	0.57899	0.981;0.728;0.682;0.73;0.692	P;P;B;P;P	0.56648	0.803;0.451;0.397;0.612;0.5	D	0.87435	0.2391	10	0.46703	T	0.11	-14.8483	11.3016	0.49309	0.0:0.9111:0.0:0.0889	.	80;39;67;125;167	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;Q99832	.;.;.;.;TCPH_HUMAN	M	80;123;167;67;39;125	ENSP00000442058:L80M;ENSP00000437824:L123M;ENSP00000258091:L167M;ENSP00000444379:L67M;ENSP00000438462:L39M	ENSP00000258091:L167M	L	+	1	2	CCT7	73325232	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.223000	0.51231	1.431000	0.47355	0.563000	0.77884	CTG		0.488	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			25	121	1	0	1.64293e-13	1	1.77503e-13	25	121				
ZNF549	256051	broad.mit.edu	37	19	58048598	58048598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58048598G>T	ENST00000376233.3	+	4	407	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGGCTGAGGAGGCCCCTTC	0.463																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(226-228)Gag>Tag		zinc finger protein 549							104.0	99.0	100.0					19																	58048598		2203	4300	6503	SO:0001587	stop_gained	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58048598G>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.226G>T	19.37:g.58048598G>T	ENSP00000365407:p.Glu76*					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*	p.E76*	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	407	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	76			KRAB.		B3KV91|O43336|Q8NAR4	Nonsense_Mutation	SNP	ENST00000376233.3	37	c.226G>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604444	0.66445	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.28	0.8	0.18672	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.1166	0.10084	0.2989:0.0:0.7011:0.0	.	.	.	.	X	63;76	.	ENSP00000240719:E63X	E	+	1	0	ZNF549	62740410	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.050000	0.14120	0.260000	0.21731	0.655000	0.94253	GAG		0.463	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		93	393	1	0	1.69331e-39	1	2.04788e-39	93	393				
AKAP9	10142	broad.mit.edu	37	7	91714146	91714146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91714146C>T	ENST00000359028.2	+	35	8961	c.8736C>T	c.(8734-8736)gaC>gaT	p.D2912D	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.D2908D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2912					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGATCAGACTGGGGTCAGG	0.353			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8734-8736)gaC>gaT		A kinase (PRKA) anchor protein 9							98.0	102.0	100.0					7																	91714146		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91714146C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8736C>T	7.37:g.91714146C>T						AKAP9_ENST00000356239.3_Silent_p.D2908D|AKAP9_ENST00000358100.2_Intron	p.D2912D			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		35	8961	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2912					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.8736C>T		.	.	.	.	.	.	.	.	.	.	C	7.563	0.665143	0.14710	.	.	ENSG00000127914	ENST00000435423	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.65228	0.2671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63148	-0.6702	4	.	.	.	.	13.363	0.60667	0.0:0.9237:0.0:0.0763	.	.	.	.	I	53	.	.	T	+	2	0	AKAP9	91552082	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.841000	0.39240	2.577000	0.86979	0.561000	0.74099	ACT		0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		128	604	0	0	0	1	0	128	604				
ABCA4	24	broad.mit.edu	37	1	94471006	94471006	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94471006T>G	ENST00000370225.3	-	44	6224	c.6138A>C	c.(6136-6138)gaA>gaC	p.E2046D	ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2046	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCTTTTCGATTTCTTCTGCTG	0.433																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6136-6138)gaA>gaC		ATP-binding cassette, sub-family A (ABC1), member 4							116.0	114.0	114.0					1																	94471006		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94471006T>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6138A>C	1.37:g.94471006T>G	ENSP00000359245:p.Glu2046Asp					ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D|ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D|ABCA4_ENST00000465352.1_5'UTR	p.E2046D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	44	6224	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2046			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6138A>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	5.129	0.209488	0.09757	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.94376	-3.41;-3.41;-3.41	5.63	1.82	0.25136	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.153113	0.56097	D	0.000022	T	0.72112	0.3420	N	0.20766	0.605	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.17979	0.003;0.02	T	0.62618	-0.6816	10	0.12103	T	0.63	.	4.9251	0.13889	0.1166:0.0655:0.1216:0.6963	.	165;2046	B4DX12;P78363	.;ABCA4_HUMAN	D	838;2046;316;165	ENSP00000359245:E2046D;ENSP00000439707:E316D;ENSP00000443203:E165D	ENSP00000359245:E2046D	E	-	3	2	ABCA4	94243594	1.000000	0.71417	0.912000	0.35992	0.186000	0.23388	1.500000	0.35682	0.500000	0.27991	0.533000	0.62120	GAA		0.433	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		93	366	0	0	0	1	0	93	366				
ADAMTS16	170690	broad.mit.edu	37	5	5306689	5306689	+	Missense_Mutation	SNP	T	T	C	rs200073500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306689T>C	ENST00000274181.7	+	21	3397	c.3259T>C	c.(3259-3261)Tat>Cat	p.Y1087H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1087	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTCTGGAAAGTATCGAGAGCT	0.488																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3259-3261)Tat>Cat		ADAM metallopeptidase with thrombospondin type 1 motif, 16							84.0	84.0	84.0					5																	5306689		1918	4121	6039	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306689T>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3259T>C	5.37:g.5306689T>C	ENSP00000274181:p.Tyr1087His						p.Y1087H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			21	3397	+			1087			TSP type-1 5.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3259T>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871652	0.33069	.	.	ENSG00000145536	ENST00000274181	T	0.60920	0.15	5.51	4.36	0.52297	.	0.073859	0.56097	D	0.000031	T	0.66177	0.2763	M	0.61703	1.905	0.40458	D	0.980219	D	0.76494	0.999	D	0.70487	0.969	T	0.64045	-0.6499	10	0.15066	T	0.55	.	7.8219	0.29292	0.0:0.0933:0.0:0.9067	.	1087	Q8TE57	ATS16_HUMAN	H	1087	ENSP00000274181:Y1087H	ENSP00000274181:Y1087H	Y	+	1	0	ADAMTS16	5359689	1.000000	0.71417	0.938000	0.37757	0.054000	0.15201	5.836000	0.69375	0.952000	0.37798	0.459000	0.35465	TAT		0.488	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		97	369	0	0	0	1	0	97	369				
NETO1	81832	broad.mit.edu	37	18	70461430	70461430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461430T>G	ENST00000327305.6	-	6	1218	c.561A>C	c.(559-561)caA>caC	p.Q187H	NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	187	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCTTCATAATTTGTATAGACT	0.438																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(559-561)caA>caC		neuropilin (NRP) and tolloid (TLL)-like 1							140.0	127.0	131.0					18																	70461430		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461430T>G	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.561A>C	18.37:g.70461430T>G	ENSP00000313088:p.Gln187His					NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H	p.Q187H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1218	-		Esophageal squamous(42;0.129)	187			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.561A>C	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254677	0.59212	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.39592	1.07;1.07	5.29	-3.05	0.05396	CUB (4);	0.000000	0.56097	D	0.000026	T	0.58264	0.2110	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.78314	0.991;0.981	T	0.60662	-0.7219	10	0.66056	D	0.02	-13.7615	11.5235	0.50565	0.0:0.4964:0.0:0.5036	.	186;187	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	187;186	ENSP00000313088:Q187H;ENSP00000299430:Q186H	ENSP00000299430:Q186H	Q	-	3	2	NETO1	68612410	0.627000	0.27129	0.727000	0.30756	0.741000	0.42261	-0.207000	0.09384	-0.588000	0.05882	-0.256000	0.11100	CAA		0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		85	389	0	0	0	1	0	85	389				
SMARCAL1	50485	broad.mit.edu	37	2	217285073	217285073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285073C>T	ENST00000357276.4	+	5	1244	c.914C>T	c.(913-915)gCc>gTc	p.A305V	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	305					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGGAATGGGCCTATGGCAGC	0.557									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(913-915)gCc>gTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							65.0	54.0	58.0					2																	217285073		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217285073C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.914C>T	2.37:g.217285073C>T	ENSP00000349823:p.Ala305Val					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	p.A305V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	5	1244	+		Renal(323;0.0458)	305					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.914C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275953	0.23307	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.85339	-1.97;-1.97;1.56;-1.97;0.72	4.64	2.32	0.28847	.	0.819538	0.11443	N	0.563539	T	0.74733	0.3755	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55860	-0.8074	10	0.15499	T	0.54	-5.0496	4.8631	0.13594	0.1799:0.6625:0.0:0.1575	.	305	Q9NZC9	SMAL1_HUMAN	V	305;305;204;169;25	ENSP00000349823:A305V;ENSP00000350940:A305V;ENSP00000392997:A204V;ENSP00000375974:A169V;ENSP00000390248:A25V	ENSP00000349823:A305V	A	+	2	0	SMARCAL1	216993318	0.000000	0.05858	0.006000	0.13384	0.235000	0.25334	-0.040000	0.12104	0.327000	0.23409	0.561000	0.74099	GCC		0.557	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			50	170	0	0	0	1	0	50	170				
RPS6KB2	6199	broad.mit.edu	37	11	67196455	67196455	+	Silent	SNP	C	C	T	rs369666279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67196455C>T	ENST00000312629.5	+	2	126	c.81C>T	c.(79-81)gaC>gaT	p.D27D	RPS6KB2_ENST00000539188.1_Silent_p.D27D|RPS6KB2_ENST00000524814.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	27					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCTCACAGGACGCATGTCCCC	0.627																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(79-81)gaC>gaT		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C		1,4085		0,1,2042	75.0	78.0	77.0		81	1.9	1.0	11		77	0,8332		0,0,4166	no	coding-synonymous	RPS6KB2	NM_003952.2		0,1,6208	TT,TC,CC		0.0,0.0245,0.0081		27/483	67196455	1,12417	2043	4166	6209	SO:0001819	synonymous_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67196455C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.81C>T	11.37:g.67196455C>T						RPS6KB2_ENST00000539188.1_Silent_p.D27D|RPS6KB2_ENST00000524814.1_3'UTR	p.D27D	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		2	126	+			27					B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	c.81C>T	CCDS41677.1																																																																																				0.627	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		52	292	0	0	0	1	0	52	292				
CUX1	1523	broad.mit.edu	37	7	101877361	101877361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877361G>T	ENST00000292535.7	+	22	3501	c.3463G>T	c.(3463-3465)Ggg>Tgg	p.G1155W	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000360264.3_Missense_Mutation_p.G1166W|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1155					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACCATCTTAGGGCTCACCCA	0.557																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3496-3498)Ggg>Tgg		cut-like homeobox 1							109.0	106.0	107.0					7																	101877361		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101877361G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3463G>T	7.37:g.101877361G>T	ENSP00000292535:p.Gly1155Trp					CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1155W	p.G1166W	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			22	3516	+			1155					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3496G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216979	0.79352	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.66099	-0.16;-0.16;-0.18;-0.19;-0.18;-0.18	5.32	4.43	0.53597	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.84739	0.0750	10	0.87932	D	0	-23.4085	14.2405	0.65954	0.0727:0.0:0.9273:0.0	.	1155;1166	P39880;P39880-3	CUX1_HUMAN;.	W	1166;1155;1133;1099;1053;997	ENSP00000353401:G1166W;ENSP00000292535:G1155W;ENSP00000446630:G1133W;ENSP00000447373:G1099W;ENSP00000450125:G1053W;ENSP00000451558:G997W	ENSP00000292535:G1155W	G	+	1	0	CUX1	101664081	1.000000	0.71417	0.932000	0.37286	0.997000	0.91878	7.974000	0.88039	1.215000	0.43411	0.655000	0.94253	GGG		0.557	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		58	350	1	0	2.67592e-24	1	3.05781e-24	58	350				
DNMT3L	29947	broad.mit.edu	37	21	45666402	45666402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45666402C>T	ENST00000418993.1	-	12	1522	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	DNMT3L_ENST00000270172.3_Missense_Mutation_p.A348T	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	347					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTGTTCTGGGCCAGCAGGGAC	0.567																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(1042-1044)Gcc>Acc		DNA (cytosine-5-)-methyltransferase 3-like							42.0	41.0	41.0					21																	45666402		2203	4299	6502	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45666402C>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1039G>A	21.37:g.45666402C>T	ENSP00000412862:p.Ala347Thr					DNMT3L_ENST00000418993.1_Missense_Mutation_p.A347T	p.A348T	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	12	1525	-			347					E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.1042G>A	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.979|8.979	0.974906|0.974906	0.18736|0.18736	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.30714|.	1.52;1.52|.	4.17|4.17	2.25|2.25	0.28309|0.28309	.|.	0.630018|.	0.15606|.	N|.	0.253672|.	T|.	0.36303|.	0.0962|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.22683|.	0.073;0.073|.	B;B|.	0.15870|.	0.014;0.014|.	T|.	0.22312|.	-1.0220|.	10|.	0.08837|.	T|.	0.75|.	-1.1886|-1.1886	10.0246|10.0246	0.42063|0.42063	0.0:0.8047:0.0:0.1953|0.0:0.8047:0.0:0.1953	.|.	348;347|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	T|X	348;347|141	ENSP00000270172:A348T;ENSP00000412862:A347T|.	ENSP00000270172:A348T|.	A|W	-|-	1|3	0|0	DNMT3L|DNMT3L	44490830|44490830	0.054000|0.054000	0.20591|0.20591	0.007000|0.007000	0.13788|0.13788	0.172000|0.172000	0.22775|0.22775	0.008000|0.008000	0.13197|0.13197	0.018000|0.018000	0.15052|0.15052	-0.797000|-0.797000	0.03246|0.03246	GCC|TGG		0.567	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		45	207	0	0	0	1	0	45	207				
ANKHD1	54882	broad.mit.edu	37	5	139818087	139818087	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139818087G>T	ENST00000360839.2	+	3	656	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	ANKHD1_ENST00000297183.6_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	168						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTTTGCAGATCCTGAGGT	0.433																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(502-504)Gat>Tat		ankyrin repeat and KH domain containing 1							201.0	184.0	190.0					5																	139818087		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139818087G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.502G>T	5.37:g.139818087G>T	ENSP00000354085:p.Asp168Tyr					ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y	p.D168Y	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	626	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.502G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.876600|4.876600	0.91664|0.91664	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000511151|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	.|T;T;T;T;T;T	.|0.73789	.|-0.75;-0.78;-0.6;-0.4;-0.28;-0.78	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.123818	.|0.51477	.|D	.|0.000086	.|T	.|0.81380	.|0.4810	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;D;D;P;D	.|0.76494	.|0.917;0.999;0.999;0.917;0.973	.|P;D;D;P;P	.|0.81914	.|0.776;0.995;0.995;0.851;0.894	.|T	.|0.83144	.|-0.0107	.|10	.|0.72032	.|D	.|0.01	.|.	19.2594|19.2594	0.93961|0.93961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168;168;168;157;168	.|Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.|.;.;ANKH1_HUMAN;.;.	.|Y	-1|168;182;168;168;168;168;157;168	.|ENSP00000354085:D168Y;ENSP00000297183:D168Y;ENSP00000394489:D168Y;ENSP00000378212:D168Y;ENSP00000378211:D157Y;ENSP00000432016:D168Y	.|ENSP00000432016:D168Y	.|D	+|+	.|1	.|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139798271|139798271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.684000|9.684000	0.98659|0.98659	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	.|GAT		0.433	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		87	764	1	0	9.37156e-40	1	1.13399e-39	87	764				
PLA2G6	8398	broad.mit.edu	37	22	38516823	38516823	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38516823T>C	ENST00000332509.3	-	12	1868	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G	PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G|PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	562	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCAGGAACTCCTCCAGGGG	0.622																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1684-1686)gAg>gGg		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						85.0	85.0	85.0					22																	38516823		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38516823T>C	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1685A>G	22.37:g.38516823T>C	ENSP00000333142:p.Glu562Gly					PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G	p.E562G	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			12	1868	-	Melanoma(58;0.045)		562					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.1685A>G	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641152	0.47153	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.78364	-1.17;-1.17;-1.17	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.164580	0.53938	N	0.000044	D	0.83936	0.5362	L	0.58101	1.795	0.80722	D	1	D;B	0.63880	0.993;0.004	P;B	0.60886	0.88;0.016	D	0.83691	0.0177	10	0.40728	T	0.16	-41.0939	15.5648	0.76281	0.0:0.0:0.0:1.0	.	508;562	O60733-2;O60733	.;PA2G6_HUMAN	G	562;423;508;508	ENSP00000333142:E562G;ENSP00000335149:E508G;ENSP00000386100:E508G	ENSP00000333142:E562G	E	-	2	0	PLA2G6	36846769	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.272000	0.78516	2.071000	0.62044	0.454000	0.30748	GAG		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		104	597	0	0	0	1	0	104	597				
ZKSCAN4	387032	broad.mit.edu	37	6	28213078	28213078	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213078A>G	ENST00000377294.2	-	5	1697	c.1454T>C	c.(1453-1455)gTg>gCg	p.V485A	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	485					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTTATAAGACACGGGAGCCTC	0.443																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1453-1455)gTg>gCg		zinc finger with KRAB and SCAN domains 4							121.0	126.0	124.0					6																	28213078		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213078A>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1454T>C	6.37:g.28213078A>G	ENSP00000366509:p.Val485Ala					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	p.V485A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1697	-			485					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1454T>C	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	A	7.727	0.698511	0.15106	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.05649	3.51;3.41	5.06	-2.27	0.06846	.	.	.	.	.	T	0.01421	0.0046	L	0.34521	1.04	0.09310	N	1	B	0.27791	0.189	B	0.25140	0.058	T	0.47005	-0.9150	9	0.87932	D	0	.	3.3464	0.07137	0.3562:0.0:0.1784:0.4654	.	485	Q969J2	ZKSC4_HUMAN	A	485;330	ENSP00000366509:V485A;ENSP00000401978:V330A	ENSP00000366509:V485A	V	-	2	0	ZKSCAN4	28321057	0.992000	0.36948	0.001000	0.08648	0.168000	0.22595	-0.265000	0.08644	-0.124000	0.11724	-0.250000	0.11733	GTG		0.443	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		61	550	0	0	0	1	0	61	550				
EHD4	30844	broad.mit.edu	37	15	42211611	42211611	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42211611A>C	ENST00000220325.4	-	4	804	c.721T>G	c.(721-723)Tgg>Ggg	p.W241G	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	241	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTAGGGACCACATGAGGGCC	0.632																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(721-723)Tgg>Ggg		EH-domain containing 4							79.0	73.0	75.0					15																	42211611		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42211611A>C	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.721T>G	15.37:g.42211611A>C	ENSP00000220325:p.Trp241Gly						p.W241G	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	4	804	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	241					Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.721T>G	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435371	0.83885	.	.	ENSG00000103966	ENST00000220325	D	0.94862	-3.54	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99568	1.0970	10	0.87932	D	0	-11.9241	15.2845	0.73816	1.0:0.0:0.0:0.0	.	241	Q9H223	EHD4_HUMAN	G	241	ENSP00000220325:W241G	ENSP00000220325:W241G	W	-	1	0	EHD4	39998903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.017000	0.59298	0.533000	0.62120	TGG		0.632	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		11	293	0	0	0	1	0	11	293				
PDE4DIP	9659	broad.mit.edu	37	1	144946699	144946699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946699G>T	ENST00000369354.3	-	5	751	c.562C>A	c.(562-564)Ctt>Att	p.L188I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|RNU2-38P_ENST00000410856.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	188					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTCTACAAGCCTCTCCTGG	0.433			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(973-975)Ctt>Att		phosphodiesterase 4D interacting protein							138.0	125.0	129.0					1																	144946699		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144946699G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.562C>A	1.37:g.144946699G>T	ENSP00000358360:p.Leu188Ile					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I	p.L325I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	8	1011	-			188					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.973C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488927	0.64074	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.04917	4.38;4.5;4.51;4.5;4.5;3.53;3.54	5.16	3.15	0.36227	.	.	.	.	.	T	0.10508	0.0257	M	0.65975	2.015	0.80722	D	1	B;D;D	0.76494	0.002;0.993;0.999	B;P;D	0.63957	0.011;0.86;0.92	T	0.01205	-1.1419	9	0.66056	D	0.02	.	10.3884	0.44154	0.0:0.0:0.6156:0.3844	.	188;254;188	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	254;188;188;325;325;188;188;254	ENSP00000327209:L254I;ENSP00000358360:L188I;ENSP00000358363:L188I;ENSP00000435654:L325I;ENSP00000358366:L325I;ENSP00000358357:L188I;ENSP00000358355:L188I	ENSP00000327209:L254I	L	-	1	0	PDE4DIP	143658056	0.998000	0.40836	0.925000	0.36789	0.734000	0.41952	1.902000	0.39848	0.636000	0.30508	0.655000	0.94253	CTT		0.433	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		63	419	1	0	8.24881e-48	1	1.01635e-47	63	419				
ASPM	259266	broad.mit.edu	37	1	197091137	197091137	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197091137G>T	ENST00000367409.4	-	16	4034	c.3778C>A	c.(3778-3780)Ctt>Att	p.L1260I	ASPM_ENST00000367408.1_Missense_Mutation_p.L510I|ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1260					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCCAAAAGCCTTGCACAA	0.338																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3778-3780)Ctt>Att		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							74.0	71.0	72.0					1																	197091137		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091137G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3778C>A	1.37:g.197091137G>T	ENSP00000356379:p.Leu1260Ile					ASPM_ENST00000367408.1_Missense_Mutation_p.L510I|ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I	p.L1260I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			16	4034	-			1260					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3778C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981218	0.93044	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61392	0.11;0.11;0.11	5.74	5.74	0.90152	Calponin homology domain (2);	0.000000	0.64402	D	0.000007	T	0.80654	0.4664	M	0.86740	2.835	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.992	T	0.82592	-0.0381	10	0.62326	D	0.03	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	1260;1260	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	I	1260;1260;510	ENSP00000356379:L1260I;ENSP00000294732:L1260I;ENSP00000356378:L510I	ENSP00000294732:L1260I	L	-	1	0	ASPM	195357760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.960000	0.93117	2.714000	0.92807	0.585000	0.79938	CTT		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		14	183	1	0	1.49906e-05	1	1.53515e-05	14	183				
TEP1	7011	broad.mit.edu	37	14	20841723	20841723	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841723C>T	ENST00000262715.5	-	46	6664	c.6624G>A	c.(6622-6624)gaG>gaA	p.E2208E	TEP1_ENST00000556935.1_Silent_p.E2100E|TEP1_ENST00000545983.1_Silent_p.E546E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2208					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCACCAGAAGCTCTGACCCAG	0.572																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6622-6624)gaG>gaA		telomerase-associated protein 1							74.0	69.0	70.0					14																	20841723		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841723C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6624G>A	14.37:g.20841723C>T						TEP1_ENST00000545983.1_Silent_p.E546E|TEP1_ENST00000556935.1_Silent_p.E2100E	p.E2208E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	46	6664	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2208					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6624G>A	CCDS9548.1																																																																																				0.572	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		17	235	0	0	0	1	0	17	235				
ZNF345	25850	broad.mit.edu	37	19	37368905	37368905	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368905C>T	ENST00000529555.1	+	2	1961	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Silent_p.I391I|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	391					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)			ACCAGCTAATCCATACTGGTG	0.423																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1171-1173)atC>atT		zinc finger protein 345							85.0	80.0	82.0					19																	37368905		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.chr19:37368905C>T	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.1173C>T	19.37:g.37368905C>T						ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000589046.1_Silent_p.I391I	p.I391I			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1961	+	Esophageal squamous(110;0.183)		391						Silent	SNP	ENST00000529555.1	37	c.1173C>T	CCDS12497.1																																																																																				0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			16	318	0	0	0	1	0	16	318				
GFRA3	2676	broad.mit.edu	37	5	137599964	137599964	+	Missense_Mutation	SNP	C	C	T	rs201874513	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137599964C>T	ENST00000274721.3	-	2	611	c.365G>A	c.(364-366)cGt>cAt	p.R122H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	122					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCGGGCACGGTGAACGGT	0.547													C|||	9	0.00179712	0.0	0.0	5008	,	,		20608	0.0089		0.0	False		,,,				2504	0.0					ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(364-366)cGt>cAt		GDNF family receptor alpha 3							79.0	72.0	74.0					5																	137599964		2203	4300	6503	SO:0001583	missense	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137599964C>T	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.365G>A	5.37:g.137599964C>T	ENSP00000274721:p.Arg122His					GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	611	-			122					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	c.365G>A	CCDS4201.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.48	1.950022	0.34377	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64438	-0.1;-0.1	5.28	0.0964	0.14490	GDNF/GAS1 (2);	0.765819	0.12459	N	0.467035	T	0.29850	0.0746	N	0.02539	-0.55	0.21984	N	0.999434	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.14392	-1.0474	10	0.46703	T	0.11	-0.0074	3.0095	0.06039	0.0881:0.3216:0.3285:0.2617	.	122;122	O60609-2;O60609	.;GFRA3_HUMAN	H	122	ENSP00000274721:R122H;ENSP00000367613:R122H	ENSP00000274721:R122H	R	-	2	0	GFRA3	137627863	0.976000	0.34144	0.920000	0.36463	0.855000	0.48748	0.208000	0.17415	-0.326000	0.08564	-0.291000	0.09656	CGT		0.547	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		53	342	0	0	0	1	0	53	342				
RALBP1	10928	broad.mit.edu	37	18	9513171	9513171	+	Missense_Mutation	SNP	G	G	A	rs371220710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9513171G>A	ENST00000019317.4	+	2	351	c.128G>A	c.(127-129)cGc>cAc	p.R43H	RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H			Q15311	RBP1_HUMAN	ralA binding protein 1	43					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GGATTGTACCGCACTGGCGAG	0.542																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(127-129)cGc>cAc		ralA binding protein 1		G	HIS/ARG	0,4406		0,0,2203	61.0	60.0	60.0		128	5.1	1.0	18		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	RALBP1	NM_006788.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	43/656	9513171	1,13005	2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9513171G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.128G>A	18.37:g.9513171G>A	ENSP00000019317:p.Arg43His					RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H	p.R43H			Q15311	RBP1_HUMAN			2	351	+			43					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.128G>A	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800218	0.70567	0.0	1.16E-4	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.11930	2.73;2.73	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	L	0.29908	0.895	0.80722	D	1	B	0.29766	0.256	B	0.24701	0.055	T	0.06285	-1.0835	10	0.48119	T	0.1	-10.9518	18.8686	0.92303	0.0:0.0:1.0:0.0	.	43	Q15311	RBP1_HUMAN	H	43	ENSP00000019317:R43H;ENSP00000372924:R43H	ENSP00000019317:R43H	R	+	2	0	RALBP1	9503171	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.499000	0.97975	2.520000	0.84964	0.462000	0.41574	CGC		0.542	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		55	251	0	0	0	1	0	55	251				
CATSPER1	117144	broad.mit.edu	37	11	65789270	65789270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65789270G>T	ENST00000312106.5	-	3	1647	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	504					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.L504I(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGTACGAGAGGCCCAGGGCG	0.577																																						ENST00000312106.5																			1	Substitution - Missense(1)	p.L504I(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1510-1512)Ctc>Atc		cation channel, sperm associated 1							147.0	131.0	137.0					11																	65789270		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65789270G>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1510C>A	11.37:g.65789270G>T	ENSP00000309052:p.Leu504Ile						p.L504I	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			3	1647	-			504					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1510C>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873057	0.51695	.	.	ENSG00000175294	ENST00000312106	D	0.98531	-4.98	4.7	-6.21	0.02065	Ion transport (1);	0.934142	0.08680	N	0.909567	D	0.96331	0.8803	L	0.46741	1.465	0.09310	N	1	P	0.43750	0.816	P	0.52109	0.69	D	0.92423	0.5947	10	0.45353	T	0.12	-2.6813	3.1811	0.06584	0.542:0.1214:0.2138:0.1228	.	504	Q8NEC5	CTSR1_HUMAN	I	504	ENSP00000309052:L504I	ENSP00000309052:L504I	L	-	1	0	CATSPER1	65545846	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.250000	0.02885	-1.305000	0.02327	0.448000	0.29417	CTC		0.577	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		71	284	1	0	1.63007e-36	1	1.95181e-36	71	284				
ABCC10	89845	broad.mit.edu	37	6	43400035	43400035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400035G>A	ENST00000372530.4	+	3	532	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.C63Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	106					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TTGGCAGGGTGCGTGGCAGCT	0.637																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(187-189)tGc>tAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							70.0	68.0	69.0					6																	43400035		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400035G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.317G>A	6.37:g.43400035G>A	ENSP00000361608:p.Cys106Tyr					ABCC10_ENST00000372530.4_Missense_Mutation_p.C106Y|ABCC10_ENST00000443426.2_Intron	p.C63Y	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	547	+	all_lung(25;0.00536)		106					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.188G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207194	0.22205	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.38560	1.13;1.13	5.94	4.12	0.48240	.	0.099265	0.64402	D	0.000001	T	0.12774	0.0310	N	0.14661	0.345	0.34038	D	0.654614	P;P	0.42649	0.786;0.681	B;B	0.44044	0.439;0.254	T	0.08659	-1.0711	10	0.02654	T	1	-1.4033	16.6428	0.85130	0.0:0.2452:0.7548:0.0	.	63;106	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	106;63	ENSP00000361608:C106Y;ENSP00000244533:C63Y	ENSP00000244533:C63Y	C	+	2	0	ABCC10	43508013	1.000000	0.71417	0.815000	0.32552	0.020000	0.10135	6.256000	0.72473	0.810000	0.34279	0.561000	0.74099	TGC		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		10	447	0	0	0	1	0	10	447				
DDX60L	91351	broad.mit.edu	37	4	169292909	169292909	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169292909G>T	ENST00000511577.1	-	36	5029	c.4782C>A	c.(4780-4782)atC>atA	p.I1594I	DDX60L_ENST00000260184.7_Silent_p.I1594I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1594							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGTGCGCAGGATGACCTGAA	0.408																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4780-4782)atC>atA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							68.0	68.0	68.0					4																	169292909		2018	4175	6193	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169292909G>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4782C>A	4.37:g.169292909G>T						DDX60L_ENST00000260184.7_Silent_p.I1594I	p.I1594I			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	36	5029	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1594					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.4782C>A																																																																																					0.408	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		15	79	1	0	2.23348e-06	1	2.30073e-06	15	79				
ZNF649	65251	broad.mit.edu	37	19	52394210	52394210	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394210C>A	ENST00000354957.3	-	5	1463	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	ZNF577_ENST00000485702.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGTGAATTTTCTGATGTCTAA	0.443																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1177-1179)caG>caT		zinc finger protein 649							116.0	117.0	117.0					19																	52394210		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394210C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1179G>T	19.37:g.52394210C>A	ENSP00000347043:p.Gln393His					ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H|CTC-429C10.2_ENST00000600329.1_RNA	p.Q393H	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1463	-		all_neural(266;0.0602)	393					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1179G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	9.496	1.101881	0.20632	.	.	ENSG00000198093	ENST00000354957	T	0.18502	2.21	2.63	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	L	0.48642	1.525	0.22017	N	0.99942	B	0.12013	0.005	B	0.10450	0.005	T	0.31613	-0.9937	9	0.51188	T	0.08	.	2.3609	0.04307	0.2421:0.4756:0.0:0.2823	.	393	Q9BS31	ZN649_HUMAN	H	393	ENSP00000347043:Q393H	ENSP00000347043:Q393H	Q	-	3	2	ZNF649	57086022	0.000000	0.05858	0.850000	0.33497	0.186000	0.23388	-0.279000	0.08479	0.318000	0.23185	0.404000	0.27445	CAG		0.443	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		138	586	1	0	2.06835e-67	1	2.61997e-67	138	586				
KANSL1L	151050	broad.mit.edu	37	2	211018284	211018284	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211018284G>A	ENST00000281772.9	-	2	1286	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	KANSL1L_ENST00000457374.1_Silent_p.S341S|KANSL1L_ENST00000418791.1_Silent_p.S341S|KANSL1L_ENST00000452086.1_Silent_p.S341S|KANSL1L_ENST00000429908.2_5'Flank	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	341						histone acetyltransferase complex (GO:0000123)											CAGTTGCATCGGAATCCAAAC	0.393																																						ENST00000281772.9																			0											c.(1021-1023)tcC>tcT		KAT8 regulatory NSL complex subunit 1-like							118.0	110.0	112.0					2																	211018284		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:211018284G>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1023C>T	2.37:g.211018284G>A						KANSL1L_ENST00000418791.1_Silent_p.S341S|KANSL1L_ENST00000452086.1_Silent_p.S341S|KANSL1L_ENST00000457374.1_Silent_p.S341S	p.S341S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	1286	-			341					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.1023C>T	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.824|5.824	0.336318|0.336318	0.11013|0.11013	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000428655	.|.	.|.	.|.	5.95|5.95	4.71|4.71	0.59529|0.59529	.|.	.|.	.|.	.|.	.|.	T|.	0.59891|.	0.2227|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56306|.	-0.8001|.	4|.	.|.	.|.	.|.	.|.	9.1527|9.1527	0.36973|0.36973	0.7784:0.0:0.2216:0.0|0.7784:0.0:0.2216:0.0	.|.	.|.	.|.	.|.	L|X	15;60|36	.|.	.|.	P|R	-|-	2|1	0|2	C2orf67|C2orf67	210726529|210726529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.054000|1.054000	0.30455|0.30455	0.965000|0.965000	0.38133|0.38133	-0.253000|-0.253000	0.11424|0.11424	CCG|CGA		0.393	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		132	382	0	0	0	1	0	132	382				
SLC4A3	6508	broad.mit.edu	37	2	220496996	220496996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496996C>T	ENST00000358055.3	+	8	1485	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	SLC4A3_ENST00000317151.3_Silent_p.L325L|SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000373760.2_Silent_p.L325L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.L352L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	325					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGTGGAGCTGAACGAGCT	0.667																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(973-975)Ctg>Ttg		solute carrier family 4 (anion exchanger), member 3							36.0	41.0	40.0					2																	220496996		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496996C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.973C>T	2.37:g.220496996C>T						SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.L352L|SLC4A3_ENST00000317151.3_Silent_p.L325L|SLC4A3_ENST00000373760.2_Silent_p.L325L	p.L325L			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1485	+		Renal(207;0.0183)	325					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.973C>T	CCDS2445.1																																																																																				0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		52	212	0	0	0	1	0	52	212				
SLC10A5	347051	broad.mit.edu	37	8	82606769	82606769	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606769T>C	ENST00000518568.1	-	1	1640	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	147						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGTGGTAAAATAAGCATTAGG	0.343																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(439-441)Att>Gtt		solute carrier family 10, member 5							93.0	92.0	92.0					8																	82606769		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606769T>C		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.439A>G	8.37:g.82606769T>C	ENSP00000428612:p.Ile147Val						p.I147V	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1640	-			147					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.439A>G	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	3.831	-0.035759	0.07497	.	.	ENSG00000253598	ENST00000518568	T	0.08546	3.08	6.17	-2.11	0.07187	.	0.780519	0.11152	N	0.594054	T	0.02533	0.0077	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.08055	0.003	T	0.44314	-0.9336	10	0.07990	T	0.79	-2.728	0.1022	0.00049	0.2512:0.2181:0.2353:0.2954	.	147	Q5PT55	NTCP5_HUMAN	V	147	ENSP00000428612:I147V	ENSP00000428612:I147V	I	-	1	0	SLC10A5	82769324	0.744000	0.28250	0.157000	0.22605	0.064000	0.16182	-0.299000	0.08254	-0.588000	0.05882	0.533000	0.62120	ATT		0.343	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		68	303	0	0	0	1	0	68	303				
RERG	85004	broad.mit.edu	37	12	15262298	15262298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15262298C>T	ENST00000256953.2	-	5	682	c.346G>A	c.(346-348)Gtt>Att	p.V116I	RERG_ENST00000546331.1_Missense_Mutation_p.V97I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000536465.1_Missense_Mutation_p.V116I|RERG-IT1_ENST00000539734.1_RNA	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	116					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGTTTCCAACCAAGATGAGA	0.473																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(346-348)Gtt>Att		RAS-like, estrogen-regulated, growth inhibitor							261.0	242.0	248.0					12																	15262298		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262298C>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.346G>A	12.37:g.15262298C>T	ENSP00000256953:p.Val116Ile					RERG_ENST00000536465.1_Missense_Mutation_p.V116I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000546331.1_Missense_Mutation_p.V97I	p.V116I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	682	-			116					B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.346G>A	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696700	0.88830	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.056076	0.64402	D	0.000001	D	0.87398	0.6167	L	0.58669	1.825	0.80722	D	1	P;P	0.46395	0.877;0.651	P;P	0.53861	0.736;0.736	D	0.87856	0.2661	10	0.59425	D	0.04	.	17.948	0.89045	0.0:1.0:0.0:0.0	.	97;116	B4DI02;Q96A58	.;RERG_HUMAN	I	116;116;116;97	ENSP00000256953:V116I;ENSP00000441505:V116I;ENSP00000438280:V116I;ENSP00000444485:V97I	ENSP00000256953:V116I	V	-	1	0	RERG	15153565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.773000	0.62331	2.654000	0.90174	0.655000	0.94253	GTT		0.473	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		216	858	0	0	0	1	0	216	858				
SLC5A9	200010	broad.mit.edu	37	1	48695003	48695003	+	Missense_Mutation	SNP	G	G	A	rs368240645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48695003G>A	ENST00000438567.2	+	4	428	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	SLC5A9_ENST00000236495.5_Missense_Mutation_p.V151I|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	126					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGGTCTTCGTCCCTGTGTA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18029	0.0		0.0	False		,,,				2504	0.001					ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(451-453)Gtc>Atc		solute carrier family 5 (sodium/sugar cotransporter), member 9							112.0	96.0	102.0					1																	48695003		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48695003G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.376G>A	1.37:g.48695003G>A	ENSP00000401730:p.Val126Ile					RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000438567.2_Missense_Mutation_p.V126I|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I	p.V151I	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			5	501	+			126					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.451G>A	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221494	0.58560	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.74	4.83	0.62350	.	0.118460	0.64402	N	0.000018	D	0.87924	0.6300	M	0.62266	1.93	0.58432	D	0.999999	D;P;D	0.58620	0.983;0.924;0.971	P;P;P	0.49477	0.523;0.495;0.612	D	0.86947	0.2083	10	0.35671	T	0.21	.	13.9411	0.64054	0.0724:0.0:0.9276:0.0	.	147;126;151	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	I	147;126;151;119	ENSP00000431900:V147I;ENSP00000401730:V126I;ENSP00000236495:V151I;ENSP00000408881:V119I	ENSP00000236495:V151I	V	+	1	0	SLC5A9	48467590	0.971000	0.33674	0.982000	0.44146	0.972000	0.66771	1.612000	0.36889	1.581000	0.49865	0.655000	0.94253	GTC		0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		27	253	0	0	0	1	0	27	253				
TMEM101	84336	broad.mit.edu	37	17	42090467	42090467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42090467G>A	ENST00000589334.1	-	4	690	c.375C>T	c.(373-375)agC>agT	p.S125S	TMEM101_ENST00000587529.1_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S|TMEM101_ENST00000206380.3_Silent_p.S125S			Q96IK0	TM101_HUMAN	transmembrane protein 101	125					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCCAGCACCGCTGGCCAACA	0.622																																						ENST00000589334.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(373-375)agC>agT		transmembrane protein 101							39.0	31.0	34.0					17																	42090467		2203	4300	6503	SO:0001819	synonymous_variant	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42090467G>A	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.375C>T	17.37:g.42090467G>A						TMEM101_ENST00000206380.3_Silent_p.S125S|TMEM101_ENST00000587529.1_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S	p.S125S			Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	690	-		Breast(137;0.0264)|Prostate(33;0.0861)	125					B2R9N6	Silent	SNP	ENST00000589334.1	37	c.375C>T	CCDS11474.1																																																																																				0.622	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		45	175	0	0	0	1	0	45	175				
BLVRA	644	broad.mit.edu	37	7	43846790	43846790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43846790G>A	ENST00000402924.1	+	9	1010	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	283					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GCACTGCCTGGGGCTTGCAGA	0.443																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(847-849)Ggg>Agg		biliverdin reductase A	NADH(DB00157)						66.0	67.0	67.0					7																	43846790		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43846790G>A	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.847G>A	7.37:g.43846790G>A	ENSP00000385757:p.Gly283Arg					BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	p.G283R	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			9	1010	+			283					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.847G>A	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058859	0.19987	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.21191	2.02;2.02	4.38	2.41	0.29592	.	0.489174	0.24757	N	0.035848	T	0.13628	0.0330	N	0.22421	0.69	0.24712	N	0.993192	B	0.19706	0.038	B	0.25140	0.058	T	0.28267	-1.0049	10	0.21540	T	0.41	.	10.8631	0.46837	0.0:0.0:0.6118:0.3882	.	283	P53004	BIEA_HUMAN	R	283	ENSP00000265523:G283R;ENSP00000385757:G283R	ENSP00000265523:G283R	G	+	1	0	BLVRA	43813315	1.000000	0.71417	0.920000	0.36463	0.896000	0.52359	1.267000	0.33050	0.299000	0.22661	0.561000	0.74099	GGG		0.443	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		69	268	0	0	0	1	0	69	268				
ALOX12B	242	broad.mit.edu	37	17	7984225	7984225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7984225C>T	ENST00000319144.4	-	4	764	c.504G>A	c.(502-504)agG>agA	p.R168R	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	168	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTTGCGATGCCTCCGCACCG	0.652										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(502-504)agG>agA		arachidonate 12-lipoxygenase, 12R type							73.0	72.0	72.0					17																	7984225		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984225C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.504G>A	17.37:g.7984225C>T		Multiple Myeloma(8;0.094)				AC129492.6_ENST00000399413.3_3'UTR	p.R168R	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			4	764	-			168			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.504G>A	CCDS11129.1																																																																																				0.652	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			35	642	0	0	0	1	0	35	642				
KIF4B	285643	broad.mit.edu	37	5	154395477	154395477	+	Silent	SNP	G	G	A	rs371063141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395477G>A	ENST00000435029.4	+	1	2218	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	686	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATATGAGCTGCTCAAACTTG	0.428																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2056-2058)ctG>ctA		kinesin family member 4B							119.0	122.0	121.0					5																	154395477		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395477G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2058G>A	5.37:g.154395477G>A							p.L686L	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2218	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	686			Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.2058G>A	CCDS47324.1																																																																																				0.428	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			132	476	0	0	0	1	0	132	476				
DSE	29940	broad.mit.edu	37	6	116720703	116720703	+	Missense_Mutation	SNP	G	G	A	rs534459729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116720703G>A	ENST00000331677.3	+	3	734	c.290G>A	c.(289-291)cGc>cAc	p.R97H	DSE_ENST00000452085.3_Missense_Mutation_p.R97H|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.R116H|DSE_ENST00000359564.2_Missense_Mutation_p.R97H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	97					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TACAGTGCCCGCTGGAATGAA	0.542													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19623	0.0		0.0	False		,,,				2504	0.0041					ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(289-291)cGc>cAc		dermatan sulfate epimerase							40.0	42.0	41.0					6																	116720703		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720703G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.290G>A	6.37:g.116720703G>A	ENSP00000332151:p.Arg97His					DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.R97H|DSE_ENST00000359564.2_Missense_Mutation_p.R97H|DSE_ENST00000537543.1_Missense_Mutation_p.R116H	p.R97H			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	734	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	97					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.290G>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678193	0.88542	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.965	T	0.42464	-0.9450	10	0.72032	D	0.01	-16.5762	19.4929	0.95059	0.0:0.0:1.0:0.0	.	116;97	B7Z765;Q9UL01	.;DSE_HUMAN	H	97;97;116;97;97	ENSP00000397597:R97H;ENSP00000404049:R97H;ENSP00000441152:R116H;ENSP00000332151:R97H;ENSP00000352567:R97H	ENSP00000332151:R97H	R	+	2	0	DSE	116827396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.569000	0.73992	2.835000	0.97688	0.650000	0.86243	CGC		0.542	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		44	238	0	0	0	1	0	44	238				
NRXN2	9379	broad.mit.edu	37	11	64417929	64417929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64417929C>T	ENST00000377551.1	-	14	3311	c.3100G>A	c.(3100-3102)Gat>Aat	p.D1034N	NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N|NRXN2_ENST00000265459.6_Missense_Mutation_p.D1034N|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1034	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTTTGAGATCGAGGTTTCGG	0.632																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3100-3102)Gat>Aat		neurexin 2							151.0	137.0	142.0					11																	64417929		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64417929C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3100G>A	11.37:g.64417929C>T	ENSP00000366774:p.Asp1034Asn					NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N|NRXN2_ENST00000377551.1_Missense_Mutation_p.D1034N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N|AP001092.4_ENST00000433606.1_RNA	p.D1034N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			15	3561	-			1034			Laminin G-like 5.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3100G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254449	0.95336	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43416	U	0.000577	D	0.83096	0.5180	L	0.41906	1.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	D	0.84949	0.0870	10	0.87932	D	0	.	15.0551	0.71908	0.0:1.0:0.0:0.0	.	994;1034;780	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	N	1034;994;1034;994;1027	ENSP00000366774:D1034N;ENSP00000366782:D994N;ENSP00000265459:D1034N;ENSP00000386416:D1027N	ENSP00000265459:D1034N	D	-	1	0	NRXN2	64174505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.884000	0.69729	2.488000	0.83962	0.655000	0.94253	GAT		0.632	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		21	752	0	0	0	1	0	21	752				
ZNF83	55769	broad.mit.edu	37	19	53117594	53117594	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53117594A>C	ENST00000597597.1	-	2	2477	c.224T>G	c.(223-225)tTt>tGt	p.F75C	ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C|ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C			P51522	ZNF83_HUMAN	zinc finger protein 83	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATCCACAAAATTACATTC	0.373																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(223-225)tTt>tGt		zinc finger protein 83							70.0	72.0	72.0					19																	53117594		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117594A>C	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.224T>G	19.37:g.53117594A>C	ENSP00000472619:p.Phe75Cys					ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C	p.F75C			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2477	-			75					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.224T>G	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	a	12.24	1.877900	0.33162	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09163	3.03;3.03;3.03;3.03;3.03;3.01	2.43	2.43	0.29744	.	.	.	.	.	T	0.34019	0.0883	M	0.88377	2.95	0.09310	N	1	D;D	0.89917	0.998;1.0	P;D	0.83275	0.889;0.996	T	0.06463	-1.0825	9	0.36615	T	0.2	.	8.3566	0.32333	1.0:0.0:0.0:0.0	.	75;75	P51522-2;P51522	.;ZNF83_HUMAN	C	75	ENSP00000445993:F75C;ENSP00000301096:F75C;ENSP00000445470:F75C;ENSP00000440713:F75C;ENSP00000439681:F75C;ENSP00000375666:F75C	ENSP00000301096:F75C	F	-	2	0	ZNF83	57809406	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	1.334000	0.33827	1.099000	0.41499	0.482000	0.46254	TTT		0.373	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		58	222	0	0	0	1	0	58	222				
SCNN1B	6338	broad.mit.edu	37	16	23382619	23382619	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23382619G>A	ENST00000343070.2	+	6	1056		c.e6-1		SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTCCCCACAGGCCTGAAGTT	0.622																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.e6-1		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						69.0	49.0	56.0					16																	23382619		2197	4300	6497	SO:0001630	splice_region_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23382619G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.881-1G>A	16.37:g.23382619G>A						SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site		NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	6	1056	+								C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Splice_Site	SNP	ENST00000343070.2	37		CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796929	0.70567	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCNN1B	23290120	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.235000	0.78143	2.327000	0.79052	0.655000	0.94253	.		0.622	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		Intron	34	134	0	0	0	1	0	34	134				
PARVG	64098	broad.mit.edu	37	22	44586501	44586501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44586501C>T	ENST00000444313.3	+	7	943	c.459C>T	c.(457-459)gaC>gaT	p.D153D	PARVG_ENST00000422871.1_Silent_p.D153D|PARVG_ENST00000415224.1_Silent_p.D153D	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	153					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCAGCCCGACCTCTCCCTCC	0.607																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(457-459)gaC>gaT		parvin, gamma							98.0	78.0	85.0					22																	44586501		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44586501C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.459C>T	22.37:g.44586501C>T						PARVG_ENST00000444313.2_Silent_p.D153D|PARVG_ENST00000415224.1_Silent_p.D153D	p.D153D	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			7	883	+		Ovarian(80;0.024)|all_neural(38;0.0299)	153					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.459C>T	CCDS14057.1																																																																																				0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		68	312	0	0	0	1	0	68	312				
SLC43A2	124935	broad.mit.edu	37	17	1479048	1479048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1479048C>T	ENST00000301335.5	-	14	1648	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	SLC43A2_ENST00000412517.3_Silent_p.G383G|SLC43A2_ENST00000571650.1_Silent_p.G524G|SLC43A2_ENST00000382147.4_Silent_p.G524G	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	520					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAAGGAGCAGCCCCACGTTCA	0.682																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1570-1572)ggG>ggA		solute carrier family 43 (amino acid system L transporter), member 2							38.0	34.0	35.0					17																	1479048		2201	4299	6500	SO:0001819	synonymous_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1479048C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1560G>A	17.37:g.1479048C>T						SLC43A2_ENST00000301335.4_Silent_p.G520G|SLC43A2_ENST00000412517.3_Silent_p.G383G|SLC43A2_ENST00000382147.4_Silent_p.G524G	p.G524G			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	15	1878	-			520					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	c.1572G>A	CCDS11006.1																																																																																				0.682	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		32	97	0	0	0	1	0	32	97				
ZFC3H1	196441	broad.mit.edu	37	12	72024411	72024411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72024411T>C	ENST00000378743.3	-	18	4051	c.3693A>G	c.(3691-3693)acA>acG	p.T1231T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1231					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATTAGTACTTGTCTCTGCAC	0.328																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3691-3693)acA>acG		zinc finger, C3H1-type containing							76.0	72.0	73.0					12																	72024411		1810	4077	5887	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72024411T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3693A>G	12.37:g.72024411T>C							p.T1231T	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			18	4051	-			1231					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.3693A>G	CCDS41813.1																																																																																				0.328	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		34	170	0	0	0	1	0	34	170				
GRIN2D	2906	broad.mit.edu	37	19	48922979	48922979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48922979G>A	ENST00000263269.3	+	9	2087	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	667					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCTTCGCCGTCATCTTCCT	0.592																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1999-2001)Gtc>Atc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						132.0	118.0	123.0					19																	48922979		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48922979G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1999G>A	19.37:g.48922979G>A	ENSP00000263269:p.Val667Ile						p.V667I	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	9	2087	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	667						Missense_Mutation	SNP	ENST00000263269.3	37	c.1999G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139824	0.94560	.	.	ENSG00000105464	ENST00000263269	T	0.52057	0.68	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.68659	0.3025	M	0.75615	2.305	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.73251	-0.4042	10	0.87932	D	0	.	16.6521	0.85219	0.0:0.0:1.0:0.0	.	667	O15399	NMDE4_HUMAN	I	667	ENSP00000263269:V667I	ENSP00000263269:V667I	V	+	1	0	GRIN2D	53614791	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	9.587000	0.98229	2.543000	0.85770	0.643000	0.83706	GTC		0.592	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			73	737	0	0	0	1	0	73	737				
ANAPC2	29882	broad.mit.edu	37	9	140082017	140082017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140082017G>A	ENST00000323927.2	-	2	660	c.656C>T	c.(655-657)cCg>cTg	p.P219L	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	219					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCACACAGCGGGCTCTGCAG	0.627																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(655-657)cCg>cTg		anaphase promoting complex subunit 2							78.0	78.0	78.0					9																	140082017		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082017G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.656C>T	9.37:g.140082017G>A	ENSP00000314004:p.Pro219Leu						p.P219L	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	2	660	-	all_cancers(76;0.0926)		219					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.656C>T	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453188	0.12283	.	.	ENSG00000176248	ENST00000323927	T	0.03663	3.85	5.09	4.09	0.47781	.	0.243014	0.42964	D	0.000629	T	0.03053	0.0090	N	0.22421	0.69	0.44409	D	0.997329	B;B	0.12013	0.003;0.005	B;B	0.08055	0.001;0.003	T	0.52034	-0.8629	10	0.25751	T	0.34	-28.5775	11.4869	0.50358	0.0:0.0:0.8082:0.1918	.	219;219	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	L	219	ENSP00000314004:P219L	ENSP00000314004:P219L	P	-	2	0	ANAPC2	139201838	0.408000	0.25360	0.953000	0.39169	0.790000	0.44656	0.625000	0.24477	2.365000	0.80145	0.561000	0.74099	CCG		0.627	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		106	505	0	0	0	1	0	106	505				
ANO5	203859	broad.mit.edu	37	11	22301230	22301230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22301230C>T	ENST00000324559.8	+	22	2978	c.2661C>T	c.(2659-2661)aaC>aaT	p.N887N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	887					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAAAAGAGAACTTGGGAATTA	0.353																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2659-2661)aaC>aaT		anoctamin 5							67.0	71.0	70.0					11																	22301230		2203	4299	6502	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22301230C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2661C>T	11.37:g.22301230C>T							p.N887N	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			22	2978	+			887						Silent	SNP	ENST00000324559.8	37	c.2661C>T	CCDS31444.1																																																																																				0.353	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		39	235	0	0	0	1	0	39	235				
TRGV2	6974	broad.mit.edu	37	7	38403008	38403008	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38403008T>C	ENST00000426402.2	-	0	111									T cell receptor gamma variable 2																		CAGGTTCCACTCAACAAGGAA	0.532																																						ENST00000426402.2																			0																				67.0	65.0	66.0					7																	38403008		692	1591	2283			0							g.chr7:38403008T>C	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38403008T>C														0	111	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.532	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		17	83	0	0	0	1	0	17	83				
DIAPH3	81624	broad.mit.edu	37	13	60686224	60686224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60686224C>A	ENST00000400324.4	-	3	530	c.310G>T	c.(310-312)Gca>Tca	p.A104S	DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	104					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGGTGCTGCTGAGCAATCA	0.408																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(310-312)Gca>Tca		diaphanous-related formin 3							194.0	180.0	185.0					13																	60686224		1852	4113	5965	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60686224C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.310G>T	13.37:g.60686224C>A	ENSP00000383178:p.Ala104Ser					DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000400319.1_Intron	p.A104S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	3	530	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	104					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.310G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.030165	0.00410	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	T;T;T;T;T	0.80393	-1.37;-1.37;-1.35;-0.98;-1.37	4.24	1.8	0.24995	.	0.720518	0.12749	N	0.442318	T	0.51398	0.1672	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37549	-0.9701	10	0.15952	T	0.53	.	4.2547	0.10712	0.663:0.2219:0.1151:0.0	.	93;93;104	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	S	104;104;93;93;93;93;104;104	ENSP00000383178:A104S;ENSP00000383184:A104S;ENSP00000367141:A93S;ENSP00000383174:A93S;ENSP00000267215:A104S	ENSP00000267215:A104S	A	-	1	0	DIAPH3	59584225	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.732000	0.26072	0.080000	0.16959	-0.262000	0.10625	GCA		0.408	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		126	683	1	0	6.25825e-54	1	7.80561e-54	126	683				
IFIT1	3434	broad.mit.edu	37	10	91162883	91162883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162883C>T	ENST00000371804.3	+	2	1018	c.851C>T	c.(850-852)tCt>tTt	p.S284F	IFIT1_ENST00000546318.1_Missense_Mutation_p.S253F|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	284					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						ACACCCACTTCTGTCTTACTG	0.443																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(757-759)tCt>tTt		interferon-induced protein with tetratricopeptide repeats 1							71.0	73.0	72.0					10																	91162883		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162883C>T	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.851C>T	10.37:g.91162883C>T	ENSP00000360869:p.Ser284Phe					IFIT1_ENST00000371804.3_Missense_Mutation_p.S284F|LIPA_ENST00000371837.1_Intron	p.S253F	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	2045	+			284					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.758C>T	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294559	0.60086	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73897	-0.79;-0.79	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.212698	0.40144	N	0.001177	D	0.87095	0.6092	M	0.89095	3.005	0.45899	D	0.998747	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83615	0.0136	10	0.07482	T	0.82	.	19.01	0.92870	0.0:1.0:0.0:0.0	.	284;284	Q5T7J1;P09914	.;IFIT1_HUMAN	F	284;253	ENSP00000360869:S284F;ENSP00000441968:S253F	ENSP00000360869:S284F	S	+	2	0	IFIT1	91152863	0.915000	0.31059	0.095000	0.20976	0.446000	0.32137	3.195000	0.51013	2.791000	0.96007	0.650000	0.86243	TCT		0.443	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		84	424	0	0	0	1	0	84	424				
CACNA1A	773	broad.mit.edu	37	19	13345818	13345818	+	Silent	SNP	G	G	A	rs200501726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13345818G>A	ENST00000360228.5	-	34	5165	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.D1723D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1723					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CACTGTCCTCGTCCTCCACGT	0.542											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5164-5166)gaC>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	,,,,	0,4136		0,0,2068	161.0	166.0	164.0		5184,5169,5166,5175,5184	-10.0	0.7	19		164	1,8383		0,1,4191	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,6259	AA,AG,GG		0.0119,0.0,0.0080	,,,,	1728/2267,1723/2262,1722/2507,1725/2264,1728/2513	13345818	1,12519	2068	4192	6260	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13345818G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5166C>T	19.37:g.13345818G>A			OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CACNA1A_ENST00000573710.2_Silent_p.D1723D|CACNA1A_ENST00000574822.1_5'UTR	p.D1722D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		34	5165	-			1723					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.5166C>T	CCDS45998.1																																																																																				0.542	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		123	514	0	0	0	1	0	123	514				
PRODH	5625	broad.mit.edu	37	22	18910658	18910658	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18910658C>A	ENST00000357068.6	-	5	967	c.702G>T	c.(700-702)aaG>aaT	p.K234N	PRODH_ENST00000334029.2_Missense_Mutation_p.K126N|PRODH_ENST00000420436.1_Missense_Mutation_p.K126N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	234					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTGCTGTGAGCTTAATGGCTA	0.572																																						ENST00000357068.6																			0				breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9						c.(700-702)aaG>aaT		proline dehydrogenase (oxidase) 1	L-Proline(DB00172)						105.0	106.0	105.0					22																	18910658		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18910658C>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.702G>T	22.37:g.18910658C>A	ENSP00000349577:p.Lys234Asn					PRODH_ENST00000334029.2_Missense_Mutation_p.K126N|PRODH_ENST00000420436.1_Missense_Mutation_p.K126N	p.K234N	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN			5	967	-			234					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.702G>T	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.436079	0.43224	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.54071	0.59;0.59	4.98	2.82	0.32997	Proline dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	M	0.90870	3.155	0.54753	D	0.999985	D;D;D	0.60160	0.971;0.987;0.987	P;D;D	0.65140	0.841;0.926;0.932	T	0.72312	-0.4331	10	0.87932	D	0	-63.2333	6.6797	0.23113	0.0:0.7574:0.0:0.2426	.	150;234;126	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	N	234;27;75	ENSP00000349577:K234N;ENSP00000396806:K75N	ENSP00000334726:K126N	K	-	3	2	PRODH	17290658	0.998000	0.40836	1.000000	0.80357	0.145000	0.21501	0.497000	0.22514	0.589000	0.29677	0.550000	0.68814	AAG		0.572	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		105	473	1	0	2.13536e-36	1	2.55586e-36	105	473				
CSMD1	64478	broad.mit.edu	37	8	3253870	3253870	+	Silent	SNP	C	C	T	rs376085929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3253870C>T	ENST00000520002.1	-	18	2997	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	CSMD1_ENST00000542608.1_Silent_p.E813E|CSMD1_ENST00000602557.1_Silent_p.E814E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000539096.1_Silent_p.E813E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	814	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATCTCTGACCTCCAAGGTGT	0.527																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(2440-2442)gaG>gaA		CUB and Sushi multiple domains 1		C		1,4317		0,1,2158	49.0	63.0	58.0		2439	-6.3	0.1	8		58	0,8538		0,0,4269	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6427	TT,TC,CC		0.0,0.0232,0.0078		813/3565	3253870	1,12855	2159	4269	6428	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3253870C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2442G>A	8.37:g.3253870C>T						CSMD1_ENST00000539096.1_Silent_p.E813E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000520002.1_Silent_p.E814E|CSMD1_ENST00000542608.1_Silent_p.E813E	p.E814E			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	18	2997	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	814			CUB 5.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2442G>A		.	.	.	.	.	.	.	.	.	.	C	0.448	-0.895059	0.02491	2.32E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.3	-6.3	0.02007	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63519	-0.6619	4	.	.	.	.	14.2824	0.66221	0.0:0.5879:0.0:0.4121	.	.	.	.	S	294	.	.	G	-	1	0	CSMD1	3241277	0.994000	0.37717	0.083000	0.20561	0.013000	0.08279	0.349000	0.20055	-1.647000	0.01511	-0.136000	0.14681	GGT		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	46	0	0	0	1	0	12	46				
DDX53	168400	broad.mit.edu	37	X	23020059	23020059	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23020059T>G	ENST00000327968.5	+	1	1973	c.1885T>G	c.(1885-1887)Ttt>Gtt	p.F629V	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	629						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGAGTTTTATTTTTTAAGTTG	0.358																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(1885-1887)Ttt>Gtt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							22.0	23.0	22.0					X																	23020059		2188	4261	6449	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23020059T>G	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1885T>G	X.37:g.23020059T>G	ENSP00000368667:p.Phe629Val					RP11-40F8.2_ENST00000455399.1_RNA	p.F629V	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	1973	+			629					Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1885T>G	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308209	0.23821	.	.	ENSG00000184735	ENST00000327968	T	0.20200	2.09	4.59	-5.8	0.02347	.	3.946380	0.01749	U	0.029825	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.22800	0.075	B	0.16722	0.016	T	0.30679	-0.9970	10	0.62326	D	0.03	.	7.2613	0.26205	0.1135:0.4525:0.0:0.434	.	629	Q86TM3	DDX53_HUMAN	V	629	ENSP00000368667:F629V	ENSP00000368667:F629V	F	+	1	0	DDX53	22929980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.032000	0.00637	-1.289000	0.02375	-1.381000	0.01174	TTT		0.358	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		37	138	0	0	0	1	0	37	138				
TMX4	56255	broad.mit.edu	37	20	7962940	7962940	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7962940G>T	ENST00000246024.2	-	8	1223	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	336					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCTGCCTCAAGGAGTCTTCCA	0.512																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(1006-1008)tcC>tcA		thioredoxin-related transmembrane protein 4							89.0	81.0	83.0					20																	7962940		2203	4300	6503	SO:0001819	synonymous_variant	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7962940G>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.1008C>A	20.37:g.7962940G>T							p.S336S	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			8	1223	-			336					Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	c.1008C>A	CCDS13101.1																																																																																				0.512	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		66	282	1	0	2.84776e-26	1	3.27917e-26	66	282				
LYST	1130	broad.mit.edu	37	1	235969949	235969949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235969949C>A	ENST00000389794.3	-	6	2661	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	LYST_ENST00000389793.2_Missense_Mutation_p.E829D|LYST_ENST00000536965.1_Missense_Mutation_p.E829D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	829					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTCTGTTGCTCCCCTAGGC	0.378																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2485-2487)gaG>gaT		lysosomal trafficking regulator							208.0	198.0	202.0					1																	235969949		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969949C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2487G>T	1.37:g.235969949C>A	ENSP00000374444:p.Glu829Asp					LYST_ENST00000389793.2_Missense_Mutation_p.E829D|LYST_ENST00000536965.1_Missense_Mutation_p.E829D	p.E829D			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2661	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	829					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2487G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920571	0.33908	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63744	-0.06;-0.06;1.09	5.44	-1.1	0.09872	.	0.686203	0.15663	N	0.250785	T	0.66567	0.2802	L	0.57536	1.79	0.30384	N	0.781676	D;B	0.76494	0.999;0.004	D;B	0.79784	0.993;0.006	T	0.60821	-0.7187	10	0.34782	T	0.22	.	3.4377	0.07452	0.1084:0.3777:0.1108:0.4031	.	829;829	Q99698-3;Q99698	.;LYST_HUMAN	D	829	ENSP00000374444:E829D;ENSP00000374443:E829D;ENSP00000438315:E829D	ENSP00000374443:E829D	E	-	3	2	LYST	234036572	0.003000	0.15002	0.994000	0.49952	0.993000	0.82548	-1.448000	0.02394	-0.148000	0.11234	-0.312000	0.09012	GAG		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			239	839	1	0	5.63013e-107	1	7.24577e-107	239	839				
MAP2	4133	broad.mit.edu	37	2	210559824	210559824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559824C>T	ENST00000360351.4	+	7	3436	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	977					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAGAACATGCCAAGAAAACT	0.393																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2929-2931)gCc>gTc		microtubule-associated protein 2	Estramustine(DB01196)						76.0	73.0	74.0					2																	210559824		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559824C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2930C>T	2.37:g.210559824C>T	ENSP00000353508:p.Ala977Val					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.A977V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3436	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	977					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2930C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440411	0.25900	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25579	1.79;1.79	5.79	3.0	0.34707	MAP2/Tau projection (1);	0.609412	0.15636	N	0.252128	T	0.17365	0.0417	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.22730	-1.0208	10	0.34782	T	0.22	-1.6898	4.7164	0.12898	0.1255:0.6122:0.1215:0.1408	.	973;977	P11137-3;P11137	.;MAP2_HUMAN	V	977;973	ENSP00000353508:A977V;ENSP00000392164:A973V	ENSP00000353508:A977V	A	+	2	0	MAP2	210268069	0.009000	0.17119	0.042000	0.18584	0.780000	0.44128	0.870000	0.28010	0.361000	0.24292	-0.894000	0.02916	GCC		0.393	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		87	371	0	0	0	1	0	87	371				
ADAM28	10863	broad.mit.edu	37	8	24181515	24181515	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24181515A>C	ENST00000265769.4	+	9	999	c.889A>C	c.(889-891)Aca>Cca	p.T297P	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Splice_Site_p.T44P|ADAM28_ENST00000437154.2_Splice_Site_p.T297P|ADAM28_ENST00000540823.1_Splice_Site_p.T64P|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	297	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCAGTTAATCACGTATGTACA	0.423																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e9+1		ADAM metallopeptidase domain 28							100.0	101.0	100.0					8																	24181515		2202	4298	6500	SO:0001630	splice_region_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24181515A>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.890+1A>C	8.37:g.24181515A>C						ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Splice_Site_p.T64_splice|ADAM28_ENST00000397649.3_Splice_Site_p.T44_splice|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.T297_splice	p.T297_splice	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	999	+		Prostate(55;0.0959)	297			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Splice_Site	SNP	ENST00000265769.4	37	c.890_splice	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417484	0.62622	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.17	4.0	0.46444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.45895	0.1365	H	0.96805	3.885	0.58432	D	0.99999	D;D;D	0.69078	0.99;0.997;0.987	D;D;P	0.68039	0.93;0.955;0.886	T	0.52403	-0.8580	9	0.87932	D	0	.	7.4466	0.27215	0.758:0.0:0.0:0.242	.	64;297;297	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	P	297;44;64;297	ENSP00000265769:T297P;ENSP00000380770:T44P;ENSP00000443743:T64P;ENSP00000393699:T297P	ENSP00000265769:T297P	T	+	1	0	ADAM28	24237460	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.571000	0.53841	0.780000	0.33566	0.528000	0.53228	ACA		0.423	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	Missense_Mutation	50	238	0	0	0	1	0	50	238				
ZNF628	89887	broad.mit.edu	37	19	55994231	55994231	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994231C>T	ENST00000598519.1	+	3	2224	c.1671C>T	c.(1669-1671)cgC>cgT	p.R557R	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.R553R			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	557					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTCGCCACCGCCACGTGCACA	0.701																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1657-1659)cgC>cgT		zinc finger protein 628							22.0	24.0	23.0					19																	55994231		2201	4296	6497	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994231C>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1671C>T	19.37:g.55994231C>T						ZNF628_ENST00000598519.1_Silent_p.R557R	p.R553R			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2224	+	Breast(117;0.155)		553					Q86X34	Silent	SNP	ENST00000598519.1	37	c.1659C>T	CCDS33116.3																																																																																				0.701	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		44	187	0	0	0	1	0	44	187				
MACF1	23499	broad.mit.edu	37	1	39950279	39950279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39950279C>T	ENST00000372915.3	+	96	21874	c.21787C>T	c.(21787-21789)Cca>Tca	p.P7263S	MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000564288.1_Missense_Mutation_p.P7430S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7263	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAGGTTATCCCATCATCAGG	0.388																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(22288-22290)Cca>Tca		microtubule-actin crosslinking factor 1							87.0	93.0	91.0					1																	39950279		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39950279C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21787C>T	1.37:g.39950279C>T	ENSP00000362006:p.Pro7263Ser					MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000372915.3_Missense_Mutation_p.P7263S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S	p.P7430S			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		100	23065	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7263					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.22288C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.651|8.651	0.898360|0.898360	0.17686|0.17686	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	.|T;T;T;T;T;T	.|0.67171	.|-0.22;-0.11;-0.22;-0.25;-0.07;0.95	6.03|6.03	0.848|0.848	0.18966|0.18966	.|.	0.326671|0.326671	0.26915|0.26915	N|N	0.021858|0.021858	T|T	0.57315|0.57315	0.2045|0.2045	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.20261	.|0.005;0.0;0.0;0.043;0.043;0.002	.|B;B;B;B;B;B	.|0.17433	.|0.009;0.001;0.001;0.018;0.014;0.011	T|T	0.44513|0.44513	-0.9323|-0.9323	6|9	.|.	.|.	.|.	.|.	8.3126|8.3126	0.32080|0.32080	0.0:0.6324:0.1095:0.2581|0.0:0.6324:0.1095:0.2581	.|.	.|7263;5305;4308;133;5813;242	.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|S	4308;329|5305;7263;5305;5305;5175;5813;219	.|ENSP00000439537:P5305S;ENSP00000362006:P7263S;ENSP00000354573:P5305S;ENSP00000313438:P5305S;ENSP00000444364:P5175S;ENSP00000289893:P5813S	.|.	P|P	+|+	2|1	0|0	MACF1|MACF1	39722866|39722866	0.708000|0.708000	0.27876|0.27876	0.960000|0.960000	0.40013|0.40013	0.750000|0.750000	0.42670|0.42670	1.005000|1.005000	0.29834|0.29834	-0.058000|-0.058000	0.13177|0.13177	-0.797000|-0.797000	0.03246|0.03246	CCC|CCA		0.388	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		42	465	0	0	0	1	0	42	465				
ALKBH2	121642	broad.mit.edu	37	12	109530459	109530459	+	Missense_Mutation	SNP	C	C	T	rs573894170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109530459C>T	ENST00000429722.2	-	2	496	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	ALKBH2_ENST00000440112.2_Missense_Mutation_p.A45T|ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	45					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TTCCCTGGGGCCTCTCTCCTG	0.597								Direct reversal of damage					C|||	1	0.000199681	0.0	0.0	5008	,	,		17203	0.0		0.0	False		,,,				2504	0.001					ENST00000429722.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(133-135)Gcc>Acc	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						137.0	149.0	145.0					12																	109530459		2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109530459C>T	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.133G>A	12.37:g.109530459C>T	ENSP00000398181:p.Ala45Thr					ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T|ALKBH2_ENST00000440112.2_Missense_Mutation_p.A45T	p.A45T	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN			2	496	-			45					A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.133G>A	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433944	0.43224	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.22134	1.97;1.97	5.76	-11.5	0.00074	.	3.538250	0.00508	N	0.000171	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.018;0.001	B;B	0.10450	0.005;0.0	T	0.15150	-1.0447	10	0.09338	T	0.73	-0.7051	13.3487	0.60589	0.0:0.5201:0.3529:0.127	.	45;45	A4PET2;Q6NS38	.;ALKB2_HUMAN	T	45	ENSP00000398181:A45T;ENSP00000343021:A45T	ENSP00000343021:A45T	A	-	1	0	ALKBH2	108014842	0.000000	0.05858	0.000000	0.03702	0.432000	0.31715	-1.292000	0.02772	-3.112000	0.00241	-0.471000	0.05019	GCC		0.597	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		157	714	0	0	0	1	0	157	714				
NIPAL4	348938	broad.mit.edu	37	5	156890321	156890321	+	Missense_Mutation	SNP	C	C	A	rs201443898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156890321C>A	ENST00000311946.7	+	2	559	c.443C>A	c.(442-444)gCc>gAc	p.A148D	NIPAL4_ENST00000521390.1_3'UTR|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	148						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGACTCGTGGCCACGGGAGCC	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16729	0.0		0.0	False		,,,				2504	0.0					ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(442-444)gCc>gAc		NIPA-like domain containing 4		C	ASP/ALA,ASP/ALA	6,3900		0,6,1947	20.0	24.0	23.0		443,443	2.9	0.8	5		23	0,8304		0,0,4152	yes	missense,missense	NIPAL4	NM_001099287.1,NM_001172292.1	126,126	0,6,6099	AA,AC,CC		0.0,0.1536,0.0491	benign,benign	148/467,148/448	156890321	6,12204	1953	4152	6105	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156890321C>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.443C>A	5.37:g.156890321C>A	ENSP00000311687:p.Ala148Asp					NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D|NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron	p.A148D	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			2	559	+			148					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.443C>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	2.770	-0.255790	0.05829	0.001536	0.0	ENSG00000172548	ENST00000435489;ENST00000311946	T;D	0.90563	-0.52;-2.69	4.92	2.87	0.33458	.	0.690165	0.15240	N	0.272921	D	0.83248	0.5213	L	0.28694	0.88	0.22728	N	0.998805	B;B	0.16166	0.013;0.016	B;B	0.12156	0.007;0.007	T	0.68443	-0.5407	10	0.22109	T	0.4	-6.1498	10.8222	0.46612	0.1923:0.7013:0.1064:0.0	.	148;148	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	D	148	ENSP00000406456:A148D;ENSP00000311687:A148D	ENSP00000311687:A148D	A	+	2	0	NIPAL4	156822899	0.999000	0.42202	0.758000	0.31321	0.164000	0.22412	0.741000	0.26202	1.032000	0.39892	0.561000	0.74099	GCC		0.597	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		33	204	1	0	3.11337e-16	1	3.41587e-16	33	204				
RBBP6	5930	broad.mit.edu	37	16	24581479	24581479	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581479A>G	ENST00000319715.4	+	17	3900	c.3468A>G	c.(3466-3468)gtA>gtG	p.V1156V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.V1122V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1156					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAAGGCGTAGATAAAGATT	0.338																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3466-3468)gtA>gtG		retinoblastoma binding protein 6							52.0	59.0	57.0					16																	24581479		2197	4296	6493	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581479A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3468A>G	16.37:g.24581479A>G						RBBP6_ENST00000348022.2_Silent_p.V1122V|RBBP6_ENST00000381039.3_Intron	p.V1156V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3900	+			1156					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.3468A>G	CCDS10621.1																																																																																				0.338	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		22	374	0	0	0	1	0	22	374				
ELMOD2	255520	broad.mit.edu	37	4	141461345	141461345	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATGCCCACGAAGAAGTTAA	0.368																																						ENST00000323570.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(421-423)acG>acA		ELMO/CED-12 domain containing 2							92.0	89.0	90.0					4																	141461345		2203	4300	6503	SO:0001819	synonymous_variant	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141461345G>A	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.423G>A	4.37:g.141461345G>A							p.T141T	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			6	555	+	all_hematologic(180;0.162)		141			ELMO.		B2R712|D3DNZ0	Silent	SNP	ENST00000323570.3	37	c.423G>A	CCDS3752.1																																																																																				0.368	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		15	303	0	0	0	1	0	15	303				
CAMP	820	broad.mit.edu	37	3	48266844	48266844	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266844A>G	ENST00000576243.1	+	4	583	c.443A>G	c.(442-444)aAa>aGa	p.K148R	CAMP_ENST00000296435.2_Missense_Mutation_p.K151R			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	148					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGATTGGCAAAGAGTTTAAA	0.468																																						ENST00000296435.2																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(451-453)aAa>aGa		cathelicidin antimicrobial peptide							118.0	130.0	126.0					3																	48266844		2203	4300	6503	SO:0001583	missense	820				killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region		g.chr3:48266844A>G	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"""Endogenous ligands"""	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.443A>G	3.37:g.48266844A>G	ENSP00000458149:p.Lys148Arg					CAMP_ENST00000576243.1_Missense_Mutation_p.K148R	p.K151R	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	4	608	+			148					Q71SN9	Missense_Mutation	SNP	ENST00000576243.1	37	c.452A>G		.	.	.	.	.	.	.	.	.	.	A	9.524	1.109045	0.20714	.	.	ENSG00000164047	ENST00000296435	.	.	.	4.43	-7.69	0.01263	Cathelicidin, antimicrobial peptide, C-terminal (1);	1.918670	0.01955	N	0.042902	T	0.15046	0.0363	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	9	0.25106	T	0.35	-0.4611	7.0673	0.25159	0.425:0.0:0.455:0.12	.	148	P49913	CAMP_HUMAN	R	148	.	ENSP00000296435:K148R	K	+	2	0	CAMP	48241848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.654000	0.01984	-1.492000	0.01838	-0.232000	0.12228	AAA		0.468	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_004345		140	674	0	0	0	1	0	140	674				
SNAI3	333929	broad.mit.edu	37	16	88744989	88744989	+	Missense_Mutation	SNP	C	C	T	rs576263427		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88744989C>T	ENST00000332281.5	-	3	832	c.746G>A	c.(745-747)cGc>cAc	p.R249H	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	249					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AAGGTTGGAGCGGTCGGCAAA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17339	0.0		0.0	False		,,,				2504	0.0				Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(745-747)cGc>cAc		snail family zinc finger 3							69.0	56.0	61.0					16																	88744989		2197	4300	6497	SO:0001583	missense	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88744989C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.746G>A	16.37:g.88744989C>T	ENSP00000327968:p.Arg249His					SNAI3-AS1_ENST00000563261.1_RNA	p.R249H	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	3	832	-			249					Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	c.746G>A	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054378	0.93793	.	.	ENSG00000185669	ENST00000332281	T	0.36157	1.27	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.38733	1.17	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.49184	-0.8966	10	0.48119	T	0.1	-54.8198	17.6108	0.88053	0.0:1.0:0.0:0.0	.	249	Q3KNW1	SNAI3_HUMAN	H	249	ENSP00000327968:R249H	ENSP00000327968:R249H	R	-	2	0	SNAI3	87272490	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.647000	0.67923	2.521000	0.84997	0.561000	0.74099	CGC		0.647	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			31	201	0	0	0	1	0	31	201				
SLCO1B1	10599	broad.mit.edu	37	12	21294592	21294592	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21294592G>T	ENST00000256958.2	+	2	180	c.84G>T	c.(82-84)aaG>aaT	p.K28N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	28					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ATGGATTGAAGGTAGAATAAG	0.274																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.e2+1		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						62.0	63.0	63.0					12																	21294592		2203	4294	6497	SO:0001630	splice_region_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21294592G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.84+1G>T	12.37:g.21294592G>T							p.K28_splice	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			2	180	+			28					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Splice_Site	SNP	ENST00000256958.2	37	c.84_splice	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.825208	0.32237	.	.	ENSG00000134538	ENST00000256958	T	0.58940	0.3	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);	0.477998	0.22930	N	0.053920	T	0.75191	0.3816	M	0.85099	2.735	0.39922	D	0.974171	D	0.64830	0.994	D	0.70487	0.969	T	0.79855	-0.1627	10	0.87932	D	0	.	10.8585	0.46812	0.0:0.0:1.0:0.0	.	28	Q9Y6L6	SO1B1_HUMAN	N	28	ENSP00000256958:K28N	ENSP00000256958:K28N	K	+	3	2	SLCO1B1	21185859	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	3.719000	0.54926	2.255000	0.74692	0.650000	0.86243	AAG		0.274	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Missense_Mutation	16	173	1	0	3.45872e-05	1	3.53336e-05	16	173				
KIF4B	285643	broad.mit.edu	37	5	154393573	154393573	+	Missense_Mutation	SNP	G	G	A	rs541398809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393573G>A	ENST00000435029.4	+	1	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	52	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCACCTACGATTTTGTGTT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18375	0.001		0.0	False		,,,				2504	0.0					ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(154-156)Gat>Aat		kinesin family member 4B							106.0	104.0	105.0					5																	154393573		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393573G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.154G>A	5.37:g.154393573G>A	ENSP00000387875:p.Asp52Asn						p.D52N	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	314	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	52			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.154G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.24	2.776280	0.49786	.	.	ENSG00000226650	ENST00000435029	D	0.82619	-1.63	1.48	1.48	0.22813	Kinesin, motor domain (4);	.	.	.	.	D	0.86598	0.5971	M	0.72894	2.215	0.58432	D	0.999999	D	0.65815	0.995	P	0.61003	0.882	D	0.85022	0.0912	9	0.46703	T	0.11	.	8.8832	0.35387	0.0:0.0:1.0:0.0	.	52	Q2VIQ3	KIF4B_HUMAN	N	52	ENSP00000387875:D52N	ENSP00000387875:D52N	D	+	1	0	KIF4B	154373766	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	6.342000	0.72982	1.138000	0.42230	0.563000	0.77884	GAT		0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			53	251	0	0	0	1	0	53	251				
LMAN2	10960	broad.mit.edu	37	5	176764242	176764242	+	Missense_Mutation	SNP	C	C	T	rs142614645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176764242C>T	ENST00000303127.7	-	6	889	c.685G>A	c.(685-687)Gac>Aac	p.D229N	LMAN2_ENST00000515209.1_Missense_Mutation_p.D229N|LMAN2_ENST00000506310.1_5'Flank	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	229	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCCAGGTCGGTCATCACC	0.662																																						ENST00000303127.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(685-687)Gac>Aac		lectin, mannose-binding 2		C	ASN/ASP	0,4406		0,0,2203	97.0	85.0	89.0		685	5.9	1.0	5	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	LMAN2	NM_006816.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	229/357	176764242	1,13005	2203	4300	6503	SO:0001583	missense	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176764242C>T	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.685G>A	5.37:g.176764242C>T	ENSP00000303366:p.Asp229Asn					LMAN2_ENST00000515209.1_Missense_Mutation_p.D229N	p.D229N	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	889	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	229			L-type lectin-like.		Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	37	c.685G>A	CCDS4417.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693763	0.88735	0.0	1.16E-4	ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209;ENST00000502560;ENST00000513877	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.88	5.88	0.94601	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.096018	0.64402	D	0.000001	T	0.77219	0.4098	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.67900	0.897;0.954	T	0.72786	-0.4188	10	0.33940	T	0.23	-19.5083	19.8332	0.96644	0.0:1.0:0.0:0.0	.	229;229	Q12907;D6RBV2	LMAN2_HUMAN;.	N	229;158;229;222;158	ENSP00000303366:D229N;ENSP00000423998:D229N;ENSP00000425229:D222N;ENSP00000427377:D158N	ENSP00000303366:D229N	D	-	1	0	LMAN2	176696848	1.000000	0.71417	0.954000	0.39281	0.368000	0.29767	7.423000	0.80229	2.789000	0.95967	0.655000	0.94253	GAC		0.662	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		46	282	0	0	0	1	0	46	282				
PPP1R15A	23645	broad.mit.edu	37	19	49377870	49377870	+	Silent	SNP	C	C	A	rs368067897		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49377870C>A	ENST00000200453.5	+	2	1649	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	460	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CAGAAGCAGCCTTGGGAGAAG	0.562																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1378-1380)gcC>gcA		protein phosphatase 1, regulatory subunit 15A							74.0	74.0	74.0					19																	49377870		2203	4300	6503	SO:0001819	synonymous_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377870C>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1380C>A	19.37:g.49377870C>A							p.A460A	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1649	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	460			4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.		B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	c.1380C>A	CCDS12738.1																																																																																				0.562	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		9	459	1	0	0.000442599	1	0.000448314	9	459				
GPR12	2835	broad.mit.edu	37	13	27333952	27333952	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333952G>A	ENST00000381436.2	-	1	475	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	GPR12_ENST00000405846.3_Silent_p.L5L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	5					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TTGACCTTCAGGTCTTCATTC	0.478																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(13-15)Ctg>Ttg		G protein-coupled receptor 12							31.0	36.0	34.0					13																	27333952		2200	4299	6499	SO:0001819	synonymous_variant	0					integral to plasma membrane		g.chr13:27333952G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.13C>T	13.37:g.27333952G>A						GPR12_ENST00000381436.2_Silent_p.L5L	p.L5L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	234	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	5					Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.13C>T	CCDS9319.1																																																																																				0.478	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			58	269	0	0	0	1	0	58	269				
MAP3K15	389840	broad.mit.edu	37	X	19413252	19413252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19413252C>T	ENST00000338883.4	-	16	2140	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G149D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGAAACAGAGCCCAGGTACTG	0.483																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2140-2142)gGc>gAc		mitogen-activated protein kinase kinase kinase 15							167.0	139.0	148.0					X																	19413252		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19413252C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2141G>A	X.37:g.19413252C>T	ENSP00000345629:p.Gly714Asp					MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G149D	p.G714D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			16	2140	-	Hepatocellular(33;0.183)		714			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.2141G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.373227	0.82573	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.25579	1.79;1.79;1.79	5.91	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.49350	1.555	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	T	0.42361	-0.9456	10	0.87932	D	0	.	14.1375	0.65297	0.0:0.9264:0.0:0.0736	.	189;714	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	D	714;149;546	ENSP00000345629:G714D;ENSP00000352093:G149D;ENSP00000428356:G546D	ENSP00000345629:G714D	G	-	2	0	MAP3K15	19323173	1.000000	0.71417	0.960000	0.40013	0.898000	0.52572	7.429000	0.80309	1.243000	0.43853	0.597000	0.82753	GGC		0.483	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		139	512	0	0	0	1	0	139	512				
PPP2R4	5524	broad.mit.edu	37	9	131909734	131909734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131909734G>A	ENST00000337738.1	+	11	1335	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PPP2R4_ENST00000347048.4_Silent_p.T102T|PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T|PPP2R4_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000355007.3_Silent_p.T279T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000435132.1_Silent_p.T59T|PPP2R4_ENST00000357197.4_Silent_p.T292T|PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000419582.1_Silent_p.T59T	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	356					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ATCCTGTCACGTCGGGCTAGG	0.637																																					Colon(158;2158 2504 4450 20433)	ENST00000337738.1																			0				breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1066-1068)acG>acA		protein phosphatase 2A activator, regulatory subunit 4							61.0	49.0	53.0					9																	131909734		2203	4300	6503	SO:0001819	synonymous_variant	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131909734G>A	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.1068G>A	9.37:g.131909734G>A						PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000357197.4_Silent_p.T292T|PPP2R4_ENST00000419582.1_Silent_p.T59T|PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000355007.3_Silent_p.T279T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T|PPP2R4_ENST00000435132.1_Silent_p.T59T|PPP2R4_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000347048.4_Silent_p.T102T	p.T356T	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	11	1335	+		Medulloblastoma(224;0.235)	356					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Silent	SNP	ENST00000337738.1	37	c.1068G>A																																																																																					0.637	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		7	240	0	0	0	1	0	7	240				
CD1A	909	broad.mit.edu	37	1	158226772	158226772	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158226772G>T	ENST00000289429.5	+	4	1334	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	267	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAACCCTGGAGGTGGCCGCTG	0.622																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(799-801)gaG>gaT		CD1a molecule	Antithymocyte globulin(DB00098)						88.0	82.0	84.0					1																	158226772		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226772G>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.801G>T	1.37:g.158226772G>T	ENSP00000289429:p.Glu267Asp						p.E267D	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			4	1334	+	all_hematologic(112;0.0378)		267			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.801G>T	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292564	0.00245	.	.	ENSG00000158477	ENST00000289429	T	0.03242	4.0	3.84	-3.71	0.04424	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.522691	0.16162	N	0.226714	T	0.00271	0.0008	N	0.01522	-0.82	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	10	0.02654	T	1	-11.0955	2.3388	0.04254	0.1334:0.0943:0.2953:0.4769	.	267	P06126	CD1A_HUMAN	D	267	ENSP00000289429:E267D	ENSP00000289429:E267D	E	+	3	2	CD1A	156493396	0.116000	0.22171	0.099000	0.21106	0.162000	0.22319	-0.156000	0.10100	-0.858000	0.04110	-1.495000	0.00966	GAG		0.622	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		15	560	1	0	5.01169e-05	1	5.1097e-05	15	560				
LY75	4065	broad.mit.edu	37	2	160676380	160676380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160676380C>T	ENST00000263636.4	-	29	4037	c.4010G>A	c.(4009-4011)aGa>aAa	p.R1337K	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1337K|LY75_ENST00000554112.1_Missense_Mutation_p.R1337K|LY75_ENST00000553424.1_Missense_Mutation_p.R1337K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1337K	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1337	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCTTCCTGCTCTCCAATGTGT	0.353																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(4009-4011)aGa>aAa		lymphocyte antigen 75							75.0	78.0	77.0					2																	160676380		2202	4300	6502	SO:0001583	missense	4065							g.chr2:160676380C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4010G>A	2.37:g.160676380C>T	ENSP00000263636:p.Arg1337Lys					LY75_ENST00000554112.1_Missense_Mutation_p.R1337K|LY75_ENST00000553424.1_Missense_Mutation_p.R1337K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1337K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1337K	p.R1337K	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	29	4037	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.4010G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029604	0.35797	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	5.65	3.61	0.41365	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.07548	0.0190	L	0.44542	1.39	0.34409	D	0.696113	B;B;B	0.32302	0.126;0.363;0.018	B;B;B	0.35770	0.058;0.21;0.016	T	0.05321	-1.0892	9	0.02654	T	1	-22.7819	11.0666	0.47979	0.0:0.7978:0.0:0.2022	.	1337;1337;1337	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	K	1337	ENSP00000451511:R1337K;ENSP00000451446:R1337K;ENSP00000263636:R1337K;ENSP00000423463:R1337K;ENSP00000421035:R1337K	ENSP00000423463:R1337K	R	-	2	0	LY75;LY75-CD302	160384626	0.989000	0.36119	0.943000	0.38184	0.975000	0.68041	1.428000	0.34892	1.376000	0.46267	0.591000	0.81541	AGA		0.353	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			81	324	0	0	0	1	0	81	324				
TTC5	91875	broad.mit.edu	37	14	20770011	20770011	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20770011C>A	ENST00000258821.3	-	2	221	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	55					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTTCCATCTGCTGTAGGGTTT	0.473																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(163-165)caG>caT		tetratricopeptide repeat domain 5							250.0	193.0	212.0					14																	20770011		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20770011C>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.165G>T	14.37:g.20770011C>A	ENSP00000258821:p.Gln55His						p.Q55H	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	2	221	-	all_cancers(95;0.00092)		55					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.165G>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.19|11.19	1.565085|1.565085	0.27915|0.27915	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821;ENST00000553828	.|T	.|0.32272	.|1.46	4.44|4.44	0.638|0.638	0.17742|0.17742	.|Tetratricopeptide-like helical (1);	.|0.349613	.|0.31279	.|N	.|0.007923	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.19112|0.19112	0.55|0.55	0.28962|0.28962	N|N	0.889745|0.889745	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.07309|0.07309	-1.0779|-1.0779	5|10	.|0.48119	.|T	.|0.1	.|.	1.72|1.72	0.02909|0.02909	0.1481:0.4512:0.1449:0.2559|0.1481:0.4512:0.1449:0.2559	.|.	.|55	.|Q8N0Z6	.|TTC5_HUMAN	S|H	55|55;6	.|ENSP00000258821:Q55H	.|ENSP00000258821:Q55H	A|Q	-|-	1|3	0|2	TTC5|TTC5	19839851|19839851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	0.827000|0.827000	0.27421|0.27421	0.520000|0.520000	0.28426|0.28426	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.473	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		32	367	1	0	6.97489e-18	1	7.71847e-18	32	367				
PKD1	5310	broad.mit.edu	37	16	2153410	2153410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153410G>T	ENST00000262304.4	-	23	8856	c.8648C>A	c.(8647-8649)gCt>gAt	p.A2883D	PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2883					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCCGGGCAGCCCAGTCCGA	0.682																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8647-8649)gCt>gAt		polycystic kidney disease 1 (autosomal dominant)							33.0	37.0	36.0					16																	2153410		2030	3976	6006	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153410G>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8648C>A	16.37:g.2153410G>T	ENSP00000262304:p.Ala2883Asp					PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D	p.A2883D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8856	-			2883					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8648C>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063084	0.55432	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36520	1.25;1.25	4.65	2.58	0.30949	.	0.440473	0.23298	N	0.049704	T	0.33760	0.0874	M	0.65975	2.015	0.09310	N	1	B;P	0.48911	0.013;0.917	B;P	0.46850	0.014;0.529	T	0.13602	-1.0503	10	0.10902	T	0.67	.	5.5778	0.17233	0.1112:0.2203:0.6685:0.0	.	2883;2883	P98161-3;P98161	.;PKD1_HUMAN	D	2883;2883;2218	ENSP00000262304:A2883D;ENSP00000399501:A2883D	ENSP00000262304:A2883D	A	-	2	0	PKD1	2093411	0.000000	0.05858	0.124000	0.21820	0.088000	0.18126	0.548000	0.23314	1.183000	0.42943	0.555000	0.69702	GCT		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			176	687	1	0	1.10422e-86	1	1.41595e-86	176	687				
GRK7	131890	broad.mit.edu	37	3	141499500	141499500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141499500G>T	ENST00000264952.2	+	2	1034	c.897G>T	c.(895-897)caG>caT	p.Q299H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACTCGGCCCAGATAGCCTGTG	0.547																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(895-897)caG>caT		G protein-coupled receptor kinase 7							96.0	86.0	90.0					3																	141499500		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499500G>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.897G>T	3.37:g.141499500G>T	ENSP00000264952:p.Gln299His						p.Q299H	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			2	1034	+			299			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.897G>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196994	0.79015	.	.	ENSG00000114124	ENST00000264952	T	0.34667	1.35	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63462	-0.6632	10	0.87932	D	0	-21.6541	18.5075	0.90902	0.0:0.0:1.0:0.0	.	299	Q8WTQ7	GRK7_HUMAN	H	299	ENSP00000264952:Q299H	ENSP00000264952:Q299H	Q	+	3	2	GRK7	142982190	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.304000	0.65744	2.357000	0.79964	0.655000	0.94253	CAG		0.547	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		49	217	1	0	2.13883e-14	1	2.32436e-14	49	217				
NKRF	55922	broad.mit.edu	37	X	118724025	118724025	+	Silent	SNP	G	G	A	rs192991563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724025G>A	ENST00000371527.1	-	2	2015	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	NKRF_ENST00000542113.1_Silent_p.L470L|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.L455L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	455					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGTCGTTCAGCGTGCACACG	0.428													G|||	1	0.000264901	0.0	0.0	3775	,	,		15502	0.0		0.001	False		,,,				2504	0.0					ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1363-1365)Ctg>Ttg		NFKB repressing factor							104.0	97.0	99.0					X																	118724025		2203	4300	6503	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724025G>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1363C>T	X.37:g.118724025G>A						NKRF_ENST00000304449.5_Silent_p.L455L|NKRF_ENST00000542113.1_Silent_p.L470L|NKRF_ENST00000487600.1_Intron	p.L455L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2015	-			455					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1363C>T	CCDS35375.1																																																																																				0.428	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		134	352	0	0	0	1	0	134	352				
LONP1	9361	broad.mit.edu	37	19	5714234	5714234	+	Missense_Mutation	SNP	C	C	T	rs148374055	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5714234C>T	ENST00000360614.3	-	2	635	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000593119.1_Missense_Mutation_p.A96T|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAGGCTGGGCGAGACGAACT	0.438													C|||	2	0.000399361	0.0	0.0	5008	,	,		20095	0.0		0.0	False		,,,				2504	0.002					ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(478-480)Gcc>Acc		lon peptidase 1, mitochondrial		C	THR/ALA	0,4406		0,0,2203	124.0	117.0	119.0		478	4.8	1.0	19	dbSNP_134	119	10,8590	7.7+/-29.5	0,10,4290	yes	missense	LONP1	NM_004793.2	58	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	160/960	5714234	10,12996	2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5714234C>T	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.478G>A	19.37:g.5714234C>T	ENSP00000353826:p.Ala160Thr					LONP1_ENST00000593119.1_Missense_Mutation_p.A96T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T	p.A160T	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			2	635	-			160			Lon.			Missense_Mutation	SNP	ENST00000360614.3	37	c.478G>A	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916731	0.92249	0.0	0.001163	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.42513	0.97	4.81	4.81	0.61882	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.75447	2.3	0.58432	D	0.999991	D;P;D	0.54207	0.965;0.907;0.965	P;P;P	0.51055	0.657;0.523;0.657	T	0.57505	-0.7800	10	0.40728	T	0.16	-28.4331	15.4058	0.74877	0.0:1.0:0.0:0.0	.	160;96;160	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	T	160;124	ENSP00000353826:A160T	ENSP00000351177:A124T	A	-	1	0	LONP1	5665234	1.000000	0.71417	0.983000	0.44433	0.923000	0.55619	7.137000	0.77295	2.226000	0.72624	0.555000	0.69702	GCC		0.438	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		103	418	0	0	0	1	0	103	418				
MYH10	4628	broad.mit.edu	37	17	8448851	8448851	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8448851C>T	ENST00000269243.4	-	12	1454	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	MYH10_ENST00000379980.4_Missense_Mutation_p.R455H|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000360416.3_Missense_Mutation_p.R449H|MYH10_ENST00000396239.1_Missense_Mutation_p.R439H	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	439	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTATTGATGCGATGAACGAG	0.428																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1345-1347)cGc>cAc		myosin, heavy chain 10, non-muscle							105.0	103.0	104.0					17																	8448851		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8448851C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1316G>A	17.37:g.8448851C>T	ENSP00000269243:p.Arg439His					MYH10_ENST00000269243.4_Missense_Mutation_p.R439H|MYH10_ENST00000396239.1_Missense_Mutation_p.R439H|MYH10_ENST00000379980.4_Missense_Mutation_p.R455H	p.R449H	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			13	1484	-			439			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1346G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383496	0.95967	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96149	0.9106	10	0.87932	D	0	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	448;449;439	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	H	439;449;439;455	ENSP00000269243:R439H;ENSP00000353590:R449H;ENSP00000379539:R439H;ENSP00000369315:R455H	ENSP00000269243:R439H	R	-	2	0	MYH10	8389576	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	CGC		0.428	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			93	388	0	0	0	1	0	93	388				
NCKAP5	344148	broad.mit.edu	37	2	133540013	133540013	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540013G>A	ENST00000409261.1	-	14	4744	c.4371C>T	c.(4369-4371)acC>acT	p.T1457T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1457T|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1457										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATCAGTCGCGGTTGCAGAGG	0.507																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4369-4371)acC>acT		NCK-associated protein 5							52.0	51.0	52.0					2																	133540013		1922	4127	6049	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540013G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4371C>T	2.37:g.133540013G>A						NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1457T	p.T1457T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4744	-			1457					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4371C>T	CCDS46418.1																																																																																				0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	231	0	0	0	1	0	8	231				
POR	5447	broad.mit.edu	37	7	75609877	75609877	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609877T>C	ENST00000450476.1	+	1	60	c.50T>C	c.(49-51)gTa>gCa	p.V17A	POR_ENST00000419840.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000461988.1_Intron|POR_ENST00000439269.1_5'Flank			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	0					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CAGATCCATGTATCTGAAAGG	0.637																																						ENST00000450476.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(49-51)gTa>gCa		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)																																			SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75609877T>C	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000450476.1:c.50T>C	7.37:g.75609877T>C	ENSP00000416572:p.Val17Ala					POR_ENST00000461988.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000419840.1_Intron	p.V17A			P16435	NCPR_HUMAN			1	60	+			0					Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000450476.1	37	c.50T>C		.	.	.	.	.	.	.	.	.	.	T	2.573	-0.299130	0.05532	.	.	ENSG00000127948	ENST00000450476	T	0.02944	4.1	2.86	-4.17	0.03857	.	.	.	.	.	T	0.01489	0.0048	.	.	.	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.47971	-0.9075	8	0.22109	T	0.4	.	1.4206	0.02311	0.17:0.1213:0.3948:0.3139	.	17	E7EVY7	.	A	17	ENSP00000416572:V17A	ENSP00000416572:V17A	V	+	2	0	POR	75447813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.040000	0.01416	-1.000000	0.03438	-1.277000	0.01392	GTA		0.637	POR-202	KNOWN	basic	protein_coding	protein_coding		NM_000941		47	197	0	0	0	1	0	47	197				
KLF15	28999	broad.mit.edu	37	3	126062615	126062615	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126062615C>T	ENST00000296233.3	-	3	1436	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	402					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAAGCGGTGCACCTTGATGT	0.657																																						ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(1204-1206)gtG>gtA		Kruppel-like factor 15							52.0	50.0	51.0					3																	126062615		2203	4300	6503	SO:0001819	synonymous_variant	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126062615C>T	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1206G>A	3.37:g.126062615C>T							p.V402V	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	1436	-			402						Silent	SNP	ENST00000296233.3	37	c.1206G>A	CCDS3036.1																																																																																				0.657	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		13	270	0	0	0	1	0	13	270				
CFLAR	8837	broad.mit.edu	37	2	201994684	201994684	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994684G>A	ENST00000309955.3	+	2	611	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000341222.6_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Silent_p.V32V|CFLAR_ENST00000395148.2_Silent_p.V32V|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000342795.5_Silent_p.V32V	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	32	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTATAGATGTGGTTCCACCTA	0.478																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000395148.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(94-96)gtG>gtA		CASP8 and FADD-like apoptosis regulator							206.0	197.0	200.0					2																	201994684		2203	4300	6503	SO:0001819	synonymous_variant	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:201994684G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.96G>A	2.37:g.201994684G>A						CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000342795.5_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000309955.2_Silent_p.V32V|CFLAR_ENST00000355558.4_Silent_p.V32V|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000341222.6_Silent_p.V32V	p.V32V			O15519	CFLAR_HUMAN			2	308	+			32			DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	c.96G>A	CCDS2337.1																																																																																				0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		216	673	0	0	0	1	0	216	673				
PCDH8	5100	broad.mit.edu	37	13	53422316	53422316	+	Missense_Mutation	SNP	C	C	T	rs113194848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422316C>T	ENST00000377942.3	-	1	459	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGGCGTCCCCGACGGTCAGC	0.647																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(256-258)Ggg>Agg		protocadherin 8							39.0	42.0	41.0					13																	53422316		2202	4297	6499	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422316C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.256G>A	13.37:g.53422316C>T	ENSP00000367177:p.Gly86Arg					PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	p.G86R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	459	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	86			Cadherin 1.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.256G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962254	0.74016	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.25912	1.77;1.77	4.99	4.99	0.66335	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.41605	D	0.000849	T	0.41789	0.1174	L	0.33624	1.015	0.50039	D	0.999842	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.20338	-1.0278	10	0.41790	T	0.15	.	18.3006	0.90162	0.0:1.0:0.0:0.0	.	86;86	O95206-2;O95206	.;PCDH8_HUMAN	R	86	ENSP00000367177:G86R;ENSP00000341350:G86R	ENSP00000341350:G86R	G	-	1	0	PCDH8	52320317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.654000	0.46699	2.337000	0.79520	0.561000	0.74099	GGG		0.647	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		21	465	0	0	0	1	0	21	465				
SH3RF1	57630	broad.mit.edu	37	4	170051308	170051308	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170051308C>T	ENST00000284637.9	-	6	1410		c.e6-1		SH3RF1_ENST00000508685.1_Splice_Site	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTATATGAACCTGCCGAGAAA	0.408																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e6-1		SH3 domain containing ring finger 1							25.0	26.0	26.0					4																	170051308		2203	4300	6503	SO:0001630	splice_region_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170051308C>T	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1069-1G>A	4.37:g.170051308C>T						SH3RF1_ENST00000508685.1_Splice_Site		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	6	1410	-		Prostate(90;0.00267)|Renal(120;0.0183)						Q05BT2|Q8IW46|Q9HAM2|Q9P234	Splice_Site	SNP	ENST00000284637.9	37		CCDS34099.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877903	0.51801	.	.	ENSG00000154447	ENST00000284637	.	.	.	5.49	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2401	0.65952	0.0:0.9284:0.0:0.0716	.	.	.	.	.	-1	.	.	.	-	.	.	SH3RF1	170287883	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.941000	0.75922	1.323000	0.45263	-0.142000	0.14014	.		0.408	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	Intron	20	96	0	0	0	1	0	20	96				
CCDC88C	440193	broad.mit.edu	37	14	91774720	91774720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91774720C>T	ENST00000389857.6	-	17	3067	c.2981G>A	c.(2980-2982)cGc>cAc	p.R994H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	994					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTAACTGGCGATTTAGGCT	0.493																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2980-2982)cGc>cAc		coiled-coil domain containing 88C							142.0	138.0	140.0					14																	91774720		2070	4211	6281	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91774720C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2981G>A	14.37:g.91774720C>T	ENSP00000374507:p.Arg994His						p.R994H	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			17	3067	-		all_cancers(154;0.0468)	994					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2981G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	3.184	-0.167316	0.06461	.	.	ENSG00000015133	ENST00000389857	T	0.14516	2.5	4.53	-1.03	0.10102	.	0.422486	0.19662	N	0.108941	T	0.03095	0.0091	N	0.00801	-1.175	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42361	-0.9456	10	0.33141	T	0.24	-5.3296	4.6717	0.12692	0.1297:0.2315:0.0:0.6388	.	994	Q9P219	DAPLE_HUMAN	H	994	ENSP00000374507:R994H	ENSP00000374507:R994H	R	-	2	0	CCDC88C	90844473	0.997000	0.39634	0.001000	0.08648	0.044000	0.14063	1.276000	0.33156	-0.503000	0.06586	0.313000	0.20887	CGC		0.493	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		44	237	0	0	0	1	0	44	237				
MSR1	4481	broad.mit.edu	37	8	16026093	16026093	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026093T>C	ENST00000262101.5	-	4	625	c.504A>G	c.(502-504)ggA>ggG	p.G168G	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000445506.2_Silent_p.G186G|MSR1_ENST00000350896.3_Silent_p.G168G|MSR1_ENST00000381998.4_Silent_p.G168G			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	168					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.G168G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CATTCCCATGTCCCTGGACTG	0.378																																						ENST00000350896.3																			1	Substitution - coding silent(1)	p.G168G(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(502-504)ggA>ggG		macrophage scavenger receptor 1							180.0	167.0	171.0					8																	16026093		2203	4300	6503	SO:0001819	synonymous_variant	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026093T>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.504A>G	8.37:g.16026093T>C						MSR1_ENST00000445506.2_Silent_p.G186G|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000381998.4_Silent_p.G168G|MSR1_ENST00000262101.5_Silent_p.G168G|MSR1_ENST00000536385.1_Intron	p.G168G	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	701	-			168					D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.504A>G	CCDS5995.1																																																																																				0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			77	352	0	0	0	1	0	77	352				
RRN3P2	653390	broad.mit.edu	37	16	29096576	29096576	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29096576G>T	ENST00000564580.1	+	0	568							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		AGATGTTTCAGATTCTGATGA	0.408																																						ENST00000564580.1																			0																																																			0							g.chr16:29096576G>T			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29096576G>T														0	568	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	g	12.21	1.868723	0.32977	.	.	ENSG00000103472	ENST00000415221;ENST00000427965;ENST00000219758	.	.	.	1.84	1.84	0.25277	.	0.000000	0.64402	U	0.000001	T	0.57784	0.2077	.	.	.	.	.	.	.	.	.	.	.	.	T	0.71286	-0.4638	5	0.87932	D	0	.	9.7389	0.40406	0.0:0.0:1.0:0.0	.	.	.	.	Y	171;141;171	.	ENSP00000219758:D171Y	D	+	1	0	AC009093.1	29004077	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.600000	0.74132	1.343000	0.45638	0.531000	0.56144	GAT		0.408	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		12	145	1	0	4.7546e-09	1	4.99022e-09	12	145				
ZNF32	7580	broad.mit.edu	37	10	44139542	44139542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139542G>A	ENST00000395797.1	-	3	966	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGCACAGCCAGACTCCCTCTC	0.498																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(778-780)Ctg>Ttg		zinc finger protein 32							48.0	50.0	49.0					10																	44139542		2203	4300	6503	SO:0001819	synonymous_variant	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139542G>A	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.778C>T	10.37:g.44139542G>A						ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	p.L260L	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	966	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	260					Q92951	Silent	SNP	ENST00000395797.1	37	c.778C>T	CCDS7206.1																																																																																				0.498	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		41	163	0	0	0	1	0	41	163				
PCTP	58488	broad.mit.edu	37	17	53848535	53848535	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53848535T>C	ENST00000268896.5	+	3	453	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PCTP_ENST00000576183.1_Missense_Mutation_p.S110P|PCTP_ENST00000573500.1_Missense_Mutation_p.S110P|PCTP_ENST00000325214.6_Missense_Mutation_p.S38P	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	110	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TTTTCCCATGTCCAACAGAGA	0.458																																						ENST00000576183.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(328-330)Tcc>Ccc		phosphatidylcholine transfer protein							176.0	153.0	161.0					17																	53848535		2203	4300	6503	SO:0001583	missense	58488					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity	g.chr17:53848535T>C	AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"""StAR-related lipid transfer (START) domain containing"""	8752	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 2"""	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.328T>C	17.37:g.53848535T>C	ENSP00000268896:p.Ser110Pro					PCTP_ENST00000573500.1_Missense_Mutation_p.S110P|PCTP_ENST00000268896.5_Missense_Mutation_p.S110P|PCTP_ENST00000325214.6_Missense_Mutation_p.S38P	p.S110P			Q9UKL6	PPCT_HUMAN	BRCA - Breast invasive adenocarcinoma(1;0.00207)		3	371	+			110			START.		Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	37	c.328T>C	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191660	0.58017	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T;T	0.49720	0.77;0.77	5.19	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.115303	0.64402	D	0.000010	T	0.48447	0.1500	M	0.86805	2.84	0.53688	D	0.99997	P	0.38280	0.625	B	0.33454	0.164	T	0.52109	-0.8619	10	0.52906	T	0.07	.	7.986	0.30212	0.0:0.0935:0.0:0.9065	.	110	Q9UKL6	PPCT_HUMAN	P	110;38;89	ENSP00000268896:S110P;ENSP00000415185:S38P	ENSP00000268896:S110P	S	+	1	0	PCTP	51203534	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.156000	0.50708	0.924000	0.37069	0.379000	0.24179	TCC		0.458	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213		64	357	0	0	0	1	0	64	357				
NAV3	89795	broad.mit.edu	37	12	78400927	78400927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78400927G>A	ENST00000397909.2	+	8	1782	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	NAV3_ENST00000536525.2_Missense_Mutation_p.V537I|NAV3_ENST00000228327.6_Missense_Mutation_p.V537I|NAV3_ENST00000266692.7_Missense_Mutation_p.V537I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	537						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTTCCAACAGTAAAGCAAAC	0.463										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1609-1611)Gta>Ata		neuron navigator 3							60.0	59.0	59.0					12																	78400927		1897	4119	6016	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400927G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1609G>A	12.37:g.78400927G>A	ENSP00000381007:p.Val537Ile	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.V537I|NAV3_ENST00000228327.6_Missense_Mutation_p.V537I|NAV3_ENST00000536525.2_Missense_Mutation_p.V537I	p.V537I			Q8IVL0	NAV3_HUMAN			8	1782	+			537					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1609G>A		.	.	.	.	.	.	.	.	.	.	G	6.345	0.431745	0.12045	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.29	3.38	0.38709	.	0.185424	0.25341	U	0.031368	T	0.09686	0.0238	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.14805	0.011;0.0	B;B	0.12156	0.007;0.0	T	0.20806	-1.0264	10	0.40728	T	0.16	-2.8455	15.5497	0.76141	0.0:0.406:0.594:0.0	.	537;537	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	537	ENSP00000446628:V537I;ENSP00000446132:V537I;ENSP00000381007:V537I;ENSP00000228327:V537I;ENSP00000266692:V537I	ENSP00000228327:V537I	V	+	1	0	NAV3	76925058	0.753000	0.28349	0.097000	0.21041	0.126000	0.20510	3.321000	0.51999	0.555000	0.29079	0.650000	0.86243	GTA		0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		44	237	0	0	0	1	0	44	237				
PCBP1	5093	broad.mit.edu	37	2	70315942	70315942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315942G>T	ENST00000303577.5	+	1	1358	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	356					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						ATGGGGTGCAGCTAGAACAGT	0.463																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(1066-1068)aGc>aTc		poly(rC) binding protein 1							27.0	28.0	27.0					2																	70315942		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315942G>T		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.1067G>T	2.37:g.70315942G>T	ENSP00000305556:p.Ser356Ile					PCBP1-AS1_ENST00000596028.1_RNA	p.S356I	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	1358	+			356					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.1067G>T	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334018	0.60853	.	.	ENSG00000169564	ENST00000303577	T	0.30182	1.54	3.88	3.88	0.44766	.	0.053625	0.64402	D	0.000001	T	0.42988	0.1227	L	0.57536	1.79	0.40620	D	0.981757	P	0.49862	0.929	P	0.53313	0.723	T	0.48151	-0.9060	10	0.87932	D	0	.	14.1379	0.65300	0.0:0.0:1.0:0.0	.	356	Q15365	PCBP1_HUMAN	I	356	ENSP00000305556:S356I	ENSP00000305556:S356I	S	+	2	0	PCBP1	70169446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.917000	0.48821	2.464000	0.83262	0.563000	0.77884	AGC		0.463	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		36	117	1	0	9.17885e-22	1	1.03586e-21	36	117				
ATG7	10533	broad.mit.edu	37	3	11596299	11596299	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11596299C>T	ENST00000354449.3	+	19	2119	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ATG7_ENST00000446450.2_Silent_p.S618S|ATG7_ENST00000354956.5_Silent_p.S671S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	698					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGGACATGAGCGATGATGAGA	0.627																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(2092-2094)agC>agT		autophagy related 7							90.0	81.0	84.0					3																	11596299		2203	4300	6503	SO:0001819	synonymous_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11596299C>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2094C>T	3.37:g.11596299C>T						ATG7_ENST00000446450.2_Silent_p.S618S|ATG7_ENST00000354956.5_Silent_p.S671S	p.S698S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			19	2119	+			698					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	c.2094C>T	CCDS2605.1																																																																																				0.627	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		34	159	0	0	0	1	0	34	159				
SEMA6C	10500	broad.mit.edu	37	1	151105814	151105814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151105814G>A	ENST00000341697.3	-	19	3630	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGAGAGGGCGCGGGAGCCCC	0.721																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1939-1941)Cgc>Tgc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							12.0	17.0	15.0					1																	151105814		2183	4269	6452	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105814G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1939C>T	1.37:g.151105814G>A	ENSP00000344148:p.Arg647Cys						p.R647C			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3630	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		647					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1939C>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933014	0.73442	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	3.89	3.89	0.44902	.	1.906560	0.02651	N	0.106464	T	0.63343	0.2503	N	0.21282	0.65	0.45108	D	0.998121	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.94;0.988	T	0.59941	-0.7359	10	0.49607	T	0.09	.	8.7857	0.34818	0.0:0.0:0.7751:0.2249	.	639;679;647	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	C	647;639;679;647	ENSP00000357910:R647C;ENSP00000357908:R639C;ENSP00000357909:R679C;ENSP00000344148:R647C	ENSP00000344148:R647C	R	-	1	0	SEMA6C	149372438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.046000	0.57376	1.999000	0.58509	0.561000	0.74099	CGC		0.721	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		23	72	0	0	0	1	0	23	72				
TPR	7175	broad.mit.edu	37	1	186319457	186319457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186319457C>A	ENST00000367478.4	-	21	2970	c.2674G>T	c.(2674-2676)Gaa>Taa	p.E892*	TPR_ENST00000474852.1_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	892					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTAATAGTTCTTTTGTGTTA	0.318			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(2674-2676)Gaa>Taa		translocated promoter region, nuclear basket protein							186.0	170.0	175.0					1																	186319457		1821	4081	5902	SO:0001587	stop_gained	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186319457C>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2674G>T	1.37:g.186319457C>A	ENSP00000356448:p.Glu892*						p.E892*	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	21	2970	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	892					Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	c.2674G>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	44	10.646956	0.99444	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	X	892	.	ENSP00000356448:E892X	E	-	1	0	TPR	184586080	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.310000	0.72830	2.797000	0.96272	0.561000	0.74099	GAA		0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		31	167	1	0	1.16021e-09	1	1.22295e-09	31	167				
ITGB5	3693	broad.mit.edu	37	3	124527965	124527965	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124527965C>A	ENST00000296181.4	-	9	1463	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	389					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATCCTCAGGCTGATCCCAGA	0.483																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(1165-1167)caG>caT		integrin, beta 5							116.0	113.0	114.0					3																	124527965		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124527965C>A	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1167G>T	3.37:g.124527965C>A	ENSP00000296181:p.Gln389His					ITGB5_ENST00000488466.1_5'UTR	p.Q389H	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	9	1463	-			389					B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1167G>T	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870481|1.870481	0.33069|0.33069	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000496703|ENST00000296181	.|T	.|0.63255	.|-0.03	5.63|5.63	3.7|3.7	0.42460|0.42460	.|Integrin beta subunit, N-terminal (2);	.|0.444750	.|0.23612	.|N	.|0.046324	T|T	0.37919|0.37919	0.1021|0.1021	N|N	0.08118|0.08118	0|0	0.38473|0.38473	D|D	0.947511|0.947511	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.39692	.|T	.|0.17	.|.	8.5238|8.5238	0.33293|0.33293	0.1398:0.5011:0.3591:0.0|0.1398:0.5011:0.3591:0.0	.|.	.|389	.|P18084	.|ITB5_HUMAN	S|H	156|389	.|ENSP00000296181:Q389H	.|ENSP00000296181:Q389H	A|Q	-|-	1|3	0|2	ITGB5|ITGB5	126010655|126010655	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.138000|0.138000	0.16016|0.16016	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCC|CAG		0.483	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		91	410	1	0	2.75442e-36	1	3.29635e-36	91	410				
HOOK2	29911	broad.mit.edu	37	19	12881839	12881839	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12881839T>C	ENST00000397668.3	-	10	882	c.809A>G	c.(808-810)gAg>gGg	p.E270G	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.E270G	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	270	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AACCTCCCTCTCCAGCTCGGC	0.667																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(808-810)gAg>gGg		hook microtubule-tethering protein 2							25.0	29.0	28.0					19																	12881839		2051	4182	6233	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12881839T>C	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.809A>G	19.37:g.12881839T>C	ENSP00000380785:p.Glu270Gly					HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.E270G	p.E270G	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			10	979	-			270			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.809A>G	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.208267	0.79240	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.25414	1.8;1.8	4.8	4.8	0.61643	.	0.127143	0.50627	D	0.000108	T	0.49218	0.1544	M	0.85462	2.755	0.41274	D	0.98686	P;P	0.50819	0.925;0.939	P;P	0.56278	0.691;0.795	T	0.58940	-0.7547	10	0.87932	D	0	-19.5424	13.3357	0.60516	0.0:0.0:0.0:1.0	.	270;270	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	G	270	ENSP00000380785:E270G;ENSP00000264827:E270G	ENSP00000264827:E270G	E	-	2	0	HOOK2	12742839	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.687000	0.84139	1.804000	0.52760	0.373000	0.22412	GAG		0.667	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		22	135	0	0	0	1	0	22	135				
NOX5	79400	broad.mit.edu	37	15	69325509	69325509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69325509C>T	ENST00000388866.3	+	5	788	c.747C>T	c.(745-747)caC>caT	p.H249H	NOX5_ENST00000530406.2_Silent_p.H221H|NOX5_ENST00000260364.5_Silent_p.H231H|NOX5_ENST00000455873.3_Silent_p.H214H|NOX5_ENST00000448182.3_Silent_p.H203H	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	249					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCCTCCACGTGCTGCTCT	0.731																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(691-693)caC>caT		NADPH oxidase, EF-hand calcium binding domain 5							14.0	14.0	14.0					15																	69325509		2191	4287	6478	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69325509C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.747C>T	15.37:g.69325509C>T						NOX5_ENST00000530406.2_Silent_p.H221H|NOX5_ENST00000448182.3_Silent_p.H203H|NOX5_ENST00000455873.3_Silent_p.H214H|NOX5_ENST00000388866.3_Silent_p.H249H	p.H231H			Q96PH1	NOX5_HUMAN			6	994	+			249					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.693C>T	CCDS32276.2																																																																																				0.731	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		20	44	0	0	0	1	0	20	44				
ME2	4200	broad.mit.edu	37	18	48446897	48446897	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48446897A>G	ENST00000321341.5	+	8	1078	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	269					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTGAGAAAGTACCGAGAAAAA	0.333																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(805-807)tAc>tGc		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						65.0	64.0	64.0					18																	48446897		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48446897A>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.806A>G	18.37:g.48446897A>G	ENSP00000321070:p.Tyr269Cys					ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	p.Y269C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	8	1078	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	269					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.806A>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243374	0.79912	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.56941	0.43;0.43	5.75	5.75	0.90469	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89158	0.3528	10	0.87932	D	0	-16.0466	15.046	0.71827	1.0:0.0:0.0:0.0	.	269;269	Q9BWL6;P23368	.;MAOM_HUMAN	C	269	ENSP00000321070:Y269C;ENSP00000372384:Y269C	ENSP00000321070:Y269C	Y	+	2	0	ME2	46700895	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	9.315000	0.96313	2.202000	0.70862	0.528000	0.53228	TAC		0.333	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		52	158	0	0	0	1	0	52	158				
NLRP11	204801	broad.mit.edu	37	19	56300721	56300721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56300721G>T	ENST00000589093.1	-	8	2651	c.2558C>A	c.(2557-2559)gCc>gAc	p.A853D	NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D|NLRP11_ENST00000443188.1_Missense_Mutation_p.A853D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATAACTATGGCAATATATTG	0.408																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2557-2559)gCc>gAc		NLR family, pyrin domain containing 11							127.0	133.0	131.0					19																	56300721		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56300721G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2558C>A	19.37:g.56300721G>T	ENSP00000466285:p.Ala853Asp					NLRP11_ENST00000589093.1_Missense_Mutation_p.A853D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D	p.A853D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	10	3268	-		Colorectal(82;0.0002)	853					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2558C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151332	0.38021	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.58358	0.34;0.34	2.92	-0.783	0.10958	.	.	.	.	.	T	0.74107	0.3673	H	0.94620	3.56	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.98;0.994	T	0.60541	-0.7243	9	0.72032	D	0.01	.	4.9762	0.14142	0.1316:0.4261:0.4424:0.0	.	853;799	P59045;P59045-2	NAL11_HUMAN;.	D	853;799	ENSP00000409898:A853D;ENSP00000353251:A799D	ENSP00000353251:A799D	A	-	2	0	NLRP11	60992533	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.853000	0.27777	-0.047000	0.13423	0.591000	0.81541	GCC		0.408	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		112	553	1	0	1.34498e-63	1	1.69814e-63	112	553				
NUDT9	53343	broad.mit.edu	37	4	88359522	88359522	+	Silent	SNP	G	G	A	rs115855591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88359522G>A	ENST00000302174.4	+	3	765	c.441G>A	c.(439-441)ccG>ccA	p.P147P	NUDT9_ENST00000473942.1_Silent_p.P97P	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	147					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ATGGAAGACCGAGGTAGGTAC	0.373																																						ENST00000473942.1																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(289-291)ccG>ccA		nudix (nucleoside diphosphate linked moiety X)-type motif 9							98.0	94.0	95.0					4																	88359522		2203	4300	6503	SO:0001819	synonymous_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88359522G>A	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.441G>A	4.37:g.88359522G>A						NUDT9_ENST00000302174.4_Silent_p.P147P	p.P97P	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	3	413	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	147					Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	c.291G>A	CCDS3620.1																																																																																				0.373	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			60	248	0	0	0	1	0	60	248				
ZNF189	7743	broad.mit.edu	37	9	104170805	104170805	+	Missense_Mutation	SNP	G	G	T	rs150965680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170805G>T	ENST00000339664.2	+	3	884	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF189_ENST00000374861.3_Missense_Mutation_p.R238M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	252					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACATCAAAGGATTCATACA	0.423																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(712-714)aGg>aTg		zinc finger protein 189		G	MET/ARG,MET/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	189.0	187.0		755,629	4.7	1.0	9	dbSNP_134	187	0,8600		0,0,4300	no	missense,missense	ZNF189	NM_003452.2,NM_197977.1	91,91	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	252/627,210/585	104170805	1,13005	2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170805G>T	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.755G>T	9.37:g.104170805G>T	ENSP00000342019:p.Arg252Met					ZNF189_ENST00000339664.2_Missense_Mutation_p.R252M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	p.R238M	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	997	+		Acute lymphoblastic leukemia(62;0.0559)	252					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.713G>T	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669524	0.47677	2.27E-4	0.0	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.02472	4.28;4.28;4.28	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.13072	0.0317	M	0.63428	1.95	0.38357	D	0.944495	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.978;0.977	T	0.00197	-1.1930	10	0.87932	D	0	.	15.8947	0.79325	0.0:0.0:1.0:0.0	.	237;238;252	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	M	238;252;210	ENSP00000363995:R238M;ENSP00000342019:R252M;ENSP00000259395:R210M	ENSP00000259395:R210M	R	+	2	0	ZNF189	103210626	0.035000	0.19736	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.882000	0.98803	0.655000	0.94253	AGG		0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		216	928	1	0	9.62737e-85	1	1.23358e-84	216	928				
TNNT2	7139	broad.mit.edu	37	1	201333469	201333469	+	Missense_Mutation	SNP	C	C	T	rs397516466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201333469C>T	ENST00000509001.1	-	10	702	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H|TNNT2_ENST00000460780.1_5'Flank	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	149			R -> K.		ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ATTCCGGATGCGCTGCTGCTC	0.642																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(415-417)cGc>cAc		troponin T type 2 (cardiac)							46.0	40.0	42.0					1																	201333469		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333469C>T	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.416G>A	1.37:g.201333469C>T	ENSP00000422031:p.Arg139His					TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H	p.R139H	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			10	702	-			149		R -> K.			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.416G>A	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318568	0.81469	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	M	0.90977	3.165	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	0.83275	0.986;0.992;0.992;0.996;0.993;0.992	D	0.97750	1.0214	10	0.87932	D	0	-11.211	15.2601	0.73615	0.0:1.0:0.0:0.0	.	134;151;148;149;139;149	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	H	139;139;151;141;144;139;139;134;135;80;109;139;134;149	ENSP00000356291:R139H;ENSP00000356287:R139H;ENSP00000387874:R151H;ENSP00000404134:R141H;ENSP00000236918:R144H;ENSP00000356286:R139H;ENSP00000356284:R139H;ENSP00000353535:R134H;ENSP00000356289:R109H;ENSP00000422031:R139H;ENSP00000414036:R134H;ENSP00000402238:R149H	ENSP00000236918:R144H	R	-	2	0	TNNT2	199600092	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	5.834000	0.69361	1.926000	0.55796	0.491000	0.48974	CGC		0.642	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		24	133	0	0	0	1	0	24	133				
LGALS9B	284194	broad.mit.edu	37	17	20354929	20354929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20354929G>T	ENST00000423676.3	-	10	852	c.789C>A	c.(787-789)agC>agA	p.S263R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	263	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AGGCGATGTGGCTCCCAGAGC	0.577																																						ENST00000423676.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(787-789)agC>agA		lectin, galactoside-binding, soluble, 9B							70.0	66.0	67.0					17																	20354929		2202	4299	6501	SO:0001583	missense	284194						sugar binding	g.chr17:20354929G>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.789C>A	17.37:g.20354929G>T	ENSP00000388841:p.Ser263Arg					LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R	p.S263R			Q3B8N2	LEG9B_HUMAN			10	852	-			263			Galectin 2.		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.789C>A		.	.	.	.	.	.	.	.	.	.	G	9.204	1.029124	0.19512	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	0.871	0.19107	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.866267	0.10476	N	0.670136	T	0.46073	0.1374	M	0.72353	2.195	0.27223	N	0.959618	B;B	0.27853	0.122;0.191	B;B	0.34452	0.183;0.098	T	0.50145	-0.8862	9	0.56958	D	0.05	.	4.1324	0.10156	0.6148:0.0:0.3852:0.0	.	263;262	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	R	262;263	.	ENSP00000315564:S263R	S	-	3	2	LGALS9B	20295521	0.000000	0.05858	0.993000	0.49108	0.611000	0.37282	-0.391000	0.07323	0.239000	0.21243	0.194000	0.17425	AGC		0.577	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		76	345	1	0	6.09681e-45	1	7.46776e-45	76	345				
TTLL5	23093	broad.mit.edu	37	14	76231067	76231067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76231067C>T	ENST00000298832.9	+	19	1865	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	TTLL5_ENST00000557636.1_Missense_Mutation_p.R568C|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C|TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	554	Poly-Arg.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTGCGAAAACGTAGACGACG	0.507																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1660-1662)Cgt>Tgt		tubulin tyrosine ligase-like family, member 5							125.0	112.0	116.0					14																	76231067		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76231067C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1660C>T	14.37:g.76231067C>T	ENSP00000298832:p.Arg554Cys					TTLL5_ENST00000557636.1_Missense_Mutation_p.R568C|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C|TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C	p.R554C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	19	1865	+			554			Poly-Arg.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.1660C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342561	0.82022	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.32753	3.57;3.67;1.57;1.44	5.29	5.29	0.74685	.	1.233700	0.05476	N	0.553897	T	0.46619	0.1402	L	0.43152	1.355	0.39164	D	0.962464	D;D;D	0.76494	0.998;0.999;0.996	P;P;P	0.56916	0.736;0.809;0.72	T	0.11348	-1.0591	10	0.72032	D	0.01	.	12.7236	0.57156	0.1642:0.8358:0.0:0.0	.	568;105;554	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	C	241;568;554;105;105;63	ENSP00000450713:R568C;ENSP00000298832:R554C;ENSP00000452524:R105C;ENSP00000451946:R63C	ENSP00000298832:R554C	R	+	1	0	TTLL5	75300820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.259000	0.43259	2.465000	0.83290	0.579000	0.79373	CGT		0.507	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		69	307	0	0	0	1	0	69	307				
CDH15	1013	broad.mit.edu	37	16	89256724	89256724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256724C>A	ENST00000289746.2	+	8	1117	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	351	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCAGGCGGCTGCCCTTAGG	0.627																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1051-1053)gCt>gAt		cadherin 15, type 1, M-cadherin (myotubule)							26.0	26.0	26.0					16																	89256724		2194	4297	6491	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256724C>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1052C>A	16.37:g.89256724C>A	ENSP00000289746:p.Ala351Asp						p.A351D	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1117	+			351			Cadherin 3.			Missense_Mutation	SNP	ENST00000289746.2	37	c.1052C>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333505	0.24167	.	.	ENSG00000129910	ENST00000289746	T	0.50277	0.75	4.37	2.29	0.28610	Cadherin (4);Cadherin-like (1);	0.785759	0.10424	U	0.676280	T	0.36963	0.0986	N	0.26042	0.785	0.09310	N	1	P	0.41188	0.741	B	0.42692	0.395	T	0.15037	-1.0451	10	0.36615	T	0.2	.	8.5853	0.33655	0.0:0.7586:0.1529:0.0885	.	351	P55291	CAD15_HUMAN	D	351	ENSP00000289746:A351D	ENSP00000289746:A351D	A	+	2	0	CDH15	87784225	0.039000	0.19947	0.001000	0.08648	0.015000	0.08874	2.379000	0.44318	0.832000	0.34804	0.555000	0.69702	GCT		0.627	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		40	92	1	0	1.59932e-28	1	1.86161e-28	40	92				
TNS3	64759	broad.mit.edu	37	7	47317697	47317697	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47317697T>C	ENST00000398879.1	-	31	4681	c.4315A>G	c.(4315-4317)Att>Gtt	p.I1439V	TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V|TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V			Q68CZ2	TENS3_HUMAN	tensin 3	1439					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGGAACCAATCATGACCTTT	0.592																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(4315-4317)Att>Gtt		tensin 3							60.0	65.0	63.0					7																	47317697		2107	4251	6358	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47317697T>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4315A>G	7.37:g.47317697T>C	ENSP00000381854:p.Ile1439Val					TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V|TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V	p.I1439V			Q68CZ2	TENS3_HUMAN			31	4681	-			1439					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.4315A>G	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982934	0.74474	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730	T;T;T	0.42131	0.98;0.98;0.98	5.18	5.18	0.71444	Phosphotyrosine interaction domain (1);Tensin phosphotyrosine-binding domain (1);	0.280669	0.35936	N	0.002894	T	0.63558	0.2521	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66999	-0.5781	10	0.59425	D	0.04	-31.1124	12.9921	0.58625	0.0:0.0:0.0:1.0	.	1439	Q68CZ2	TENS3_HUMAN	V	1439;1439;1199	ENSP00000312143:I1439V;ENSP00000381854:I1439V;ENSP00000347968:I1199V	ENSP00000312143:I1439V	I	-	1	0	TNS3	47284222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.844000	0.86867	1.963000	0.57068	0.528000	0.53228	ATT		0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		36	149	0	0	0	1	0	36	149				
LRP1B	53353	broad.mit.edu	37	2	141242946	141242946	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141242946A>T	ENST00000389484.3	-	59	10362	c.9391T>A	c.(9391-9393)Ttt>Att	p.F3131I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3131					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCTGGGAAACTTCAGCCTT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9391-9393)Ttt>Att		low density lipoprotein receptor-related protein 1B							125.0	120.0	122.0					2																	141242946		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141242946A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9391T>A	2.37:g.141242946A>T	ENSP00000374135:p.Phe3131Ile	TSP Lung(27;0.18)					p.F3131I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	59	10362	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3131					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9391T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374570	0.61735	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93488	-3.23	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.139448	0.47852	D	0.000201	D	0.84750	0.5541	N	0.11427	0.14	0.30025	N	0.813992	P	0.42827	0.791	B	0.37650	0.255	D	0.83385	0.0014	10	0.40728	T	0.16	.	11.7383	0.51778	0.8528:0.1472:0.0:0.0	.	3131	Q9NZR2	LRP1B_HUMAN	I	3131;3069	ENSP00000374135:F3131I	ENSP00000374135:F3131I	F	-	1	0	LRP1B	140959416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.153000	0.64888	2.178000	0.69098	0.533000	0.62120	TTT		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		88	228	0	0	0	1	0	88	228				
FREM2	341640	broad.mit.edu	37	13	39264502	39264502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264502G>A	ENST00000280481.7	+	1	3237	c.3021G>A	c.(3019-3021)agG>agA	p.R1007R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1007					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTACTCAAAGGGACATCTTGG	0.448																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3019-3021)agG>agA		FRAS1 related extracellular matrix protein 2							140.0	143.0	142.0					13																	39264502		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264502G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3021G>A	13.37:g.39264502G>A							p.R1007R	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3237	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1007					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.3021G>A	CCDS31960.1																																																																																				0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		81	523	0	0	0	1	0	81	523				
FBXW7	55294	broad.mit.edu	37	4	153250829	153250829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153250829C>T	ENST00000281708.4	-	8	2460	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S|FBXW7_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S|FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	411					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTACTTTGCCTGTGACTGCT	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1231-1233)Ggc>Agc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							103.0	91.0	95.0					4																	153250829		2202	4300	6502	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250829C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1231G>A	4.37:g.153250829C>T	ENSP00000281708:p.Gly411Ser					FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S|FBXW7_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S|FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S	p.G411S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			8	2460	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	411					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1231G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005164	0.93287	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.997;0.994;0.994	D	0.84899	0.0841	10	0.62326	D	0.03	-13.4447	20.5568	0.99304	0.0:1.0:0.0:0.0	.	235;411;293;331	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	S	411;293;331;235	ENSP00000281708:G411S;ENSP00000296555:G293S;ENSP00000263981:G331S;ENSP00000377528:G235S	ENSP00000263981:G331S	G	-	1	0	FBXW7	153470279	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GGC		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			23	233	0	0	0	1	0	23	233				
ITIH6	347365	broad.mit.edu	37	X	54785257	54785257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54785257G>A	ENST00000218436.6	-	8	1279	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	417	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GTGGCCTAGCGCCTGACGGAC	0.612																																						ENST00000218436.6																			0											c.(1249-1251)gCg>gTg		inter-alpha-trypsin inhibitor heavy chain family, member 6							74.0	56.0	62.0					X																	54785257		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785257G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1250C>T	X.37:g.54785257G>A	ENSP00000218436:p.Ala417Val						p.A417V	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	1279	-			417			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1250C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823094	0.50739	.	.	ENSG00000102313	ENST00000218436	T	0.15718	2.4	3.78	3.78	0.43462	von Willebrand factor, type A (3);	0.158431	0.41001	U	0.000970	T	0.31136	0.0787	M	0.71206	2.165	0.34382	D	0.693269	P	0.47762	0.9	P	0.51582	0.674	T	0.52902	-0.8513	10	0.59425	D	0.04	.	13.8649	0.63583	0.0:0.0:1.0:0.0	.	417	Q6UXX5	ITH5L_HUMAN	V	417	ENSP00000218436:A417V	ENSP00000218436:A417V	A	-	2	0	ITIH5L	54801982	1.000000	0.71417	0.074000	0.20217	0.004000	0.04260	4.112000	0.57845	1.465000	0.48006	0.597000	0.82753	GCG		0.612	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		51	159	0	0	0	1	0	51	159				
SIRT1	23411	broad.mit.edu	37	10	69651188	69651188	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69651188T>C	ENST00000212015.6	+	4	871	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	273	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATACCTGACTTCAGGTCAAGG	0.383																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(817-819)tTc>tCc		sirtuin 1							191.0	182.0	185.0					10																	69651188		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69651188T>C	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.818T>C	10.37:g.69651188T>C	ENSP00000212015:p.Phe273Ser					SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	p.F273S	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			4	871	+			273			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.818T>C	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804013	0.90623	.	.	ENSG00000096717	ENST00000212015	T	0.43294	0.95	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88521	0.3096	10	0.87932	D	0	-8.5998	14.4334	0.67266	0.0:0.0:0.0:1.0	.	273	Q96EB6	SIRT1_HUMAN	S	273	ENSP00000212015:F273S	ENSP00000212015:F273S	F	+	2	0	SIRT1	69321194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.493000	0.81493	2.064000	0.61679	0.455000	0.32223	TTC		0.383	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			136	635	0	0	0	1	0	136	635				
COL8A2	1296	broad.mit.edu	37	1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36564482C>T	ENST00000397799.1	-	4	1024	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	267	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(799-801)gGa>gAa		collagen, type VIII, alpha 2							15.0	18.0	17.0					1																	36564482		2195	4291	6486	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564482C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.800G>A	1.37:g.36564482C>T	ENSP00000380901:p.Gly267Glu					COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E	p.G267E			P25067	CO8A2_HUMAN			4	1024	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	267			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.800G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184875	0.38609	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97924	-4.61;-4.61;-4.61	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.72032	D	0.01	.	15.8236	0.78678	0.0:1.0:0.0:0.0	.	267	P25067	CO8A2_HUMAN	E	267;267;202	ENSP00000305913:G267E;ENSP00000380901:G267E;ENSP00000436433:G202E	ENSP00000305913:G267E	G	-	2	0	COL8A2	36337069	0.999000	0.42202	0.977000	0.42913	0.470000	0.32858	5.903000	0.69877	1.948000	0.56530	0.205000	0.17691	GGA		0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		18	140	0	0	0	1	0	18	140				
ADCK2	90956	broad.mit.edu	37	7	140373894	140373894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140373894G>A	ENST00000072869.4	+	1	942	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	255	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GAGCTCTTTGGATACCTTGGA	0.557																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(763-765)gGa>gAa		aarF domain containing kinase 2							55.0	62.0	60.0					7																	140373894		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373894G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.764G>A	7.37:g.140373894G>A	ENSP00000072869:p.Gly255Glu					ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	p.G255E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	942	+	Melanoma(164;0.00956)		255			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.764G>A	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554702|2.554702	0.45487|0.45487	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491|ENST00000483369	T;T|.	0.11604|.	3.12;2.76|.	3.72|3.72	1.83|1.83	0.25207|0.25207	.|.	0.286988|.	0.30085|.	N|.	0.010442|.	T|.	0.40398|.	0.1115|.	L|L	0.54323|0.54323	1.7|1.7	0.27893|0.27893	N|N	0.939245|0.939245	P;P|.	0.41313|.	0.745;0.745|.	B;B|.	0.39935|.	0.314;0.314|.	T|.	0.31586|.	-0.9938|.	10|.	0.49607|.	T|.	0.09|.	-1.8332|-1.8332	5.9138|5.9138	0.19043|0.19043	0.1818:0.1595:0.6587:0.0|0.1818:0.1595:0.6587:0.0	.|.	255;255|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	E|X	255|92	ENSP00000072869:G255E;ENSP00000420512:G255E|.	ENSP00000072869:G255E|.	G|W	+|+	2|3	0|0	ADCK2|ADCK2	140020363|140020363	0.742000|0.742000	0.28228|0.28228	0.007000|0.007000	0.13788|0.13788	0.017000|0.017000	0.09413|0.09413	1.173000|1.173000	0.31920|0.31920	0.240000|0.240000	0.21263|0.21263	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.557	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		77	318	0	0	0	1	0	77	318				
C19orf43	79002	broad.mit.edu	37	19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T	rs186539758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12842217C>T	ENST00000242784.4	-	2	481	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	122										endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16684	0.001		0.0	False		,,,				2504	0.0					ENST00000242784.4																			0				endometrium(2)|large_intestine(2)	4						c.(364-366)Ggg>Agg		chromosome 19 open reading frame 43							151.0	123.0	133.0					19																	12842217		2203	4300	6503	SO:0001583	missense	79002							g.chr19:12842217C>T	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.364G>A	19.37:g.12842217C>T	ENSP00000242784:p.Gly122Arg					C19orf43_ENST00000592273.1_Intron|C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q	p.G122R	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN			2	481	-			122						Missense_Mutation	SNP	ENST00000242784.4	37	c.364G>A	CCDS12279.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.799070	0.90538	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.66297	2.02	0.37342	D	0.910419	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	9	0.87932	D	0	-13.0597	18.0139	0.89232	0.0:1.0:0.0:0.0	.	122	Q9BQ61	CS043_HUMAN	R	122	.	ENSP00000242784:G122R	G	-	1	0	C19orf43	12703217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGG		0.597	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		67	305	0	0	0	1	0	67	305				
FAM47C	442444	broad.mit.edu	37	X	37028071	37028071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37028071C>T	ENST00000358047.3	+	1	1640	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	530										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGATTCTGGTGTCCAG	0.617																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1588-1590)Ctg>Ttg		family with sequence similarity 47, member C							84.0	83.0	84.0					X																	37028071		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028071C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1588C>T	X.37:g.37028071C>T							p.L530L	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1640	+			530					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1588C>T	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		174	493	0	0	0	1	0	174	493				
ALG11	440138	broad.mit.edu	37	13	52593269	52593269	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593269C>A	ENST00000521508.1	+	2	270	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	89					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTTAAGAGCCCTGCAGAAAAA	0.313																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(265-267)Ctg>Atg		ALG11, alpha-1,2-mannosyltransferase							54.0	52.0	52.0					13																	52593269		2203	4300	6503	SO:0001583	missense	440138							g.chr13:52593269C>A	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.265C>A	13.37:g.52593269C>A	ENSP00000430236:p.Leu89Met					ALG11_ENST00000523764.1_Intron	p.L89M	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	2	270	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	c.265C>A	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053525	0.55218	.	.	ENSG00000253710	ENST00000521508	D	0.87966	-2.32	5.65	2.51	0.30379	.	0.000000	0.64402	U	0.000018	D	0.90410	0.6998	L	0.61218	1.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.73708	0.981	D	0.88716	0.3226	10	0.51188	T	0.08	.	9.3483	0.38122	0.1211:0.7344:0.0:0.1445	.	89	Q2TAA5	ALG11_HUMAN	M	89	ENSP00000430236:L89M	ENSP00000430236:L89M	L	+	1	2	ALG11	51491270	0.993000	0.37304	0.999000	0.59377	0.992000	0.81027	3.044000	0.49830	0.724000	0.32296	0.579000	0.79373	CTG		0.313	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		45	238	1	0	1.06522e-23	1	1.21267e-23	45	238				
CHST9	83539	broad.mit.edu	37	18	24496351	24496351	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496351C>T	ENST00000284224.8	-	6	1481	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.D402N	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	402					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.D402Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GTTCTTTCATCGGAAGAGTGC	0.363																																						ENST00000284224.8																			1	Substitution - Missense(1)	p.D402Y(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(1204-1206)Gat>Aat		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							146.0	136.0	139.0					18																	24496351		1840	4090	5930	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496351C>T	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1204G>A	18.37:g.24496351C>T	ENSP00000284224:p.Asp402Asn					CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.D402N|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	p.D402N	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1481	-	all_lung(6;0.0145)|Ovarian(20;0.124)		402					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.1204G>A	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184112	0.78677	.	.	ENSG00000154080	ENST00000284224	T	0.73152	-0.72	6.07	6.07	0.98685	.	0.073354	0.56097	D	0.000021	T	0.71143	0.3305	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.73949	-0.3821	10	0.40728	T	0.16	-26.7158	20.6593	0.99626	0.0:1.0:0.0:0.0	.	402	Q7L1S5	CHST9_HUMAN	N	402	ENSP00000284224:D402N	ENSP00000284224:D402N	D	-	1	0	CHST9	22750349	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.755000	0.68750	2.885000	0.99019	0.655000	0.94253	GAT		0.363	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		127	607	0	0	0	1	0	127	607				
TUBGCP2	10844	broad.mit.edu	37	10	135103451	135103451	+	Missense_Mutation	SNP	C	C	T	rs145657678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135103451C>T	ENST00000252936.3	-	8	1276	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TUBGCP2_ENST00000368563.2_Missense_Mutation_p.E413K|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	413					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TTCCGCAGCTCGTGCTCCTCG	0.582																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1237-1239)Gag>Aag		tubulin, gamma complex associated protein 2		C	LYS/GLU	0,4406		0,0,2203	252.0	173.0	200.0		1237	5.6	1.0	10	dbSNP_134	200	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TUBGCP2	NM_006659.2	56	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	413/903	135103451	5,13001	2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135103451C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1237G>A	10.37:g.135103451C>T	ENSP00000252936:p.Glu413Lys					TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.E413K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K	p.E413K	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	9	1593	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	413					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1237G>A	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000465	0.74818	0.0	5.81E-4	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.30448	2.44;2.21;2.44;1.53;2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.21508	0.67	0.80722	D	1	P;P;P	0.48407	0.744;0.604;0.91	B;B;P	0.48795	0.18;0.274;0.59	T	0.01108	-1.1449	10	0.23891	T	0.37	-39.9652	18.667	0.91493	0.0:1.0:0.0:0.0	.	441;441;413	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	K	413;283;413;6;441	ENSP00000252936:E413K;ENSP00000395666:E283K;ENSP00000357551:E413K;ENSP00000357550:E6K;ENSP00000446093:E441K	ENSP00000252936:E413K	E	-	1	0	TUBGCP2	134953441	1.000000	0.71417	0.998000	0.56505	0.297000	0.27493	5.789000	0.69029	2.832000	0.97577	0.655000	0.94253	GAG		0.582	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			65	244	0	0	0	1	0	65	244				
HNRNPA0	10949	broad.mit.edu	37	5	137089345	137089345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089345C>A	ENST00000314940.4	-	1	694	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	137	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCACGCTTCTTGCCGGACT	0.577																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(409-411)aaG>aaT		heterogeneous nuclear ribonucleoprotein A0							66.0	64.0	64.0					5																	137089345		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089345C>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.411G>T	5.37:g.137089345C>A	ENSP00000316042:p.Lys137Asn						p.K137N	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	694	-			137			RRM 2.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.411G>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339057	0.81911	.	.	ENSG00000177733	ENST00000314940	D	0.93712	-3.27	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.95695	0.8600	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.95970	0.8969	10	0.87932	D	0	.	13.6089	0.62063	0.0:0.9223:0.0:0.0777	.	137	Q13151	ROA0_HUMAN	N	137	ENSP00000316042:K137N	ENSP00000316042:K137N	K	-	3	2	HNRNPA0	137117244	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.201000	0.51059	2.317000	0.78254	0.305000	0.20034	AAG		0.577	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		83	276	1	0	1.3466e-33	1	1.59697e-33	83	276				
KATNBL1	79768	broad.mit.edu	37	15	34440855	34440855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34440855C>T	ENST00000256544.3	-	5	677	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	179						nucleolus (GO:0005730)											GCTACAAGTTCACTTATACTT	0.373																																						ENST00000256544.3																			0											c.(535-537)Gaa>Aaa		katanin p80 subunit B-like 1							113.0	87.0	95.0					15																	34440855		2201	4298	6499	SO:0001583	missense	79768							g.chr15:34440855C>T	AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 29"""	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.535G>A	15.37:g.34440855C>T	ENSP00000256544:p.Glu179Lys						p.E179K	NM_024713.2	NP_078989.1					5	677	-								A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	c.535G>A	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490389	0.96339	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.67090	-0.5758	9	0.08837	T	0.75	.	19.4495	0.94861	0.0:1.0:0.0:0.0	.	179	Q9H079	CO029_HUMAN	K	179;83	.	ENSP00000256544:E179K	E	-	1	0	C15orf29	32228147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.659000	0.74412	2.608000	0.88229	0.585000	0.79938	GAA		0.373	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713		29	174	0	0	0	1	0	29	174				
JARID2	3720	broad.mit.edu	37	6	15468794	15468794	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15468794G>T	ENST00000341776.2	+	5	759	c.515G>T	c.(514-516)aGc>aTc	p.S172I	JARID2_ENST00000541660.1_Missense_Mutation_p.S134I|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	172					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S172I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTGCCCAACAGCATGGTGTAT	0.473																																						ENST00000341776.2																			1	Substitution - Missense(1)	p.S172I(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(514-516)aGc>aTc		jumonji, AT rich interactive domain 2							109.0	95.0	100.0					6																	15468794		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15468794G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.515G>T	6.37:g.15468794G>T	ENSP00000341280:p.Ser172Ile					JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.S134I	p.S172I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			5	759	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	172					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.515G>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712770	0.68730	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000541660	T;T	0.36157	1.27;1.27	4.94	1.69	0.24217	.	0.209292	0.47852	D	0.000207	T	0.13157	0.0319	L	0.27053	0.805	0.80722	D	1	P;P;P	0.49559	0.925;0.694;0.694	P;B;B	0.44990	0.466;0.368;0.189	T	0.03268	-1.1054	10	0.66056	D	0.02	-4.0147	5.499	0.16819	0.6353:0.0:0.3647:0.0	.	134;36;172	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	I	36;172;134	ENSP00000341280:S172I;ENSP00000444623:S134I	ENSP00000341280:S172I	S	+	2	0	JARID2	15576773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.041000	0.49807	0.504000	0.28082	0.650000	0.86243	AGC		0.473	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		40	256	1	0	1.32136e-16	1	1.45297e-16	40	256				
SH3TC1	54436	broad.mit.edu	37	4	8228996	8228996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8228996G>A	ENST00000245105.3	+	12	1642	c.1575G>A	c.(1573-1575)tgG>tgA	p.W525*	SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.W449*|SH3TC1_ENST00000514274.1_3'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	525										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGCTGCCGTGGCTGAGCAGCG	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1345-1347)tgG>tgA		SH3 domain and tetratricopeptide repeats 1							12.0	12.0	12.0					4																	8228996		2186	4283	6469	SO:0001587	stop_gained	54436						binding	g.chr4:8228996G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1575G>A	4.37:g.8228996G>A	ENSP00000245105:p.Trp525*					SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.W525*	p.W449*			Q8TE82	S3TC1_HUMAN			12	1721	+			525					Q4W5G5	Nonsense_Mutation	SNP	ENST00000245105.3	37	c.1347G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984784	0.35036	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.66	-2.8	0.05823	.	1.420050	0.04144	N	0.320109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.6626	3.8624	0.09002	0.0804:0.3468:0.1596:0.4133	.	.	.	.	X	263;525;449;354	.	ENSP00000245105:W525X	W	+	3	0	SH3TC1	8279896	0.190000	0.23276	0.001000	0.08648	0.018000	0.09664	0.169000	0.16641	-0.229000	0.09854	0.561000	0.74099	TGG		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		16	103	0	0	0	1	0	16	103				
GIGYF1	64599	broad.mit.edu	37	7	100284433	100284433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284433C>T	ENST00000275732.5	-	7	1742	c.533G>A	c.(532-534)gGc>gAc	p.G178D	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	178					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCTCAAAGCCACATCGTGC	0.647																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(532-534)gGc>gAc		GRB10 interacting GYF protein 1							40.0	41.0	41.0					7																	100284433		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100284433C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.533G>A	7.37:g.100284433C>T	ENSP00000275732:p.Gly178Asp					GIGYF1_ENST00000471340.2_Intron	p.G178D	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1742	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		178					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.533G>A	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	18.20	3.570442	0.65765	.	.	ENSG00000146830	ENST00000275732	D	0.84070	-1.8	4.96	4.06	0.47325	.	0.063561	0.64402	D	0.000008	D	0.84991	0.5595	M	0.65498	2.005	0.58432	D	0.999991	D	0.65815	0.995	P	0.53649	0.731	T	0.82372	-0.0490	10	0.19147	T	0.46	-22.4749	13.0391	0.58889	0.0:0.8368:0.1632:0.0	.	178	O75420	PERQ1_HUMAN	D	178	ENSP00000275732:G178D	ENSP00000275732:G178D	G	-	2	0	GIGYF1	100122369	0.148000	0.22702	0.996000	0.52242	0.870000	0.49936	1.120000	0.31271	1.288000	0.44600	0.563000	0.77884	GGC		0.647	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		56	279	0	0	0	1	0	56	279				
GRB14	2888	broad.mit.edu	37	2	165404219	165404219	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165404219A>G	ENST00000263915.3	-	3	970	c.432T>C	c.(430-432)atT>atC	p.I144I	GRB14_ENST00000543549.1_Silent_p.I57I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	144	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTGGTCATCAATGTAATGAT	0.428																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(430-432)atT>atC		growth factor receptor-bound protein 14							104.0	93.0	97.0					2																	165404219		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165404219A>G		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.432T>C	2.37:g.165404219A>G						GRB14_ENST00000543549.1_Silent_p.I57I	p.I144I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			3	970	-			144			Ras-associating.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.432T>C	CCDS2222.1																																																																																				0.428	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			49	258	0	0	0	1	0	49	258				
PDPN	10630	broad.mit.edu	37	1	13940894	13940894	+	Missense_Mutation	SNP	C	C	T	rs142964620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:13940894C>T	ENST00000509009.1	+	5	499	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PDPN_ENST00000376057.4_Missense_Mutation_p.S233L|PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L|PDPN_ENST00000294489.6_Missense_Mutation_p.S233L					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CGAAAAATGTCGGGAAGGTAC	0.418																																						ENST00000294489.6																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(697-699)tCg>tTg		podoplanin		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	189.0	178.0	182.0		344,344,698,698	5.8	1.0	1	dbSNP_134	182	0,8600		0,0,4300	no	missense,missense,missense,missense	PDPN	NM_001006624.1,NM_001006625.1,NM_006474.4,NM_198389.2	145,145,145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	115/121,115/119,233/239,233/237	13940894	1,13005	2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13940894C>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.455C>T	1.37:g.13940894C>T	ENSP00000422977:p.Ser152Leu					PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000509009.1_Missense_Mutation_p.S152L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000376057.4_Missense_Mutation_p.S233L	p.S233L			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	5	1039	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	157						Missense_Mutation	SNP	ENST00000509009.1	37	c.698C>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.585070	0.86748	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.81	5.81	0.92471	.	0.000000	0.49305	D	0.000146	T	0.63581	0.2523	M	0.66939	2.045	0.43250	D	0.995171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.64931	-0.6291	10	0.87932	D	0	-28.3123	15.5833	0.76462	0.0:1.0:0.0:0.0	.	157;115;233;233	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	L	233;233;224;152;115;115;115;115	ENSP00000294489:S233L;ENSP00000365225:S233L;ENSP00000426302:S224L;ENSP00000422977:S152L;ENSP00000365229:S115L;ENSP00000425304:S115L;ENSP00000427537:S115L;ENSP00000426063:S115L	ENSP00000294489:S233L	S	+	2	0	PDPN	13813481	0.997000	0.39634	0.987000	0.45799	0.922000	0.55478	4.468000	0.60162	2.765000	0.95021	0.655000	0.94253	TCG		0.418	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		86	370	0	0	0	1	0	86	370				
PCDHB5	26167	broad.mit.edu	37	5	140517107	140517107	+	Silent	SNP	G	G	A	rs61745780	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517107G>A	ENST00000231134.5	+	1	2308	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	697					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGTCGTCGCTCTTCC	0.706																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2089-2091)tcG>tcA																																						SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517107G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2091G>A	5.37:g.140517107G>A							p.S697S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2308	+			697					Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.2091G>A	CCDS4247.1																																																																																				0.706	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		47	1221	0	0	0	1	0	47	1221				
EML3	256364	broad.mit.edu	37	11	62373584	62373584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373584C>T	ENST00000394773.2	-	13	1914	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	EML3_ENST00000531557.1_Missense_Mutation_p.R319H|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000529309.1_Missense_Mutation_p.R536H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Missense_Mutation_p.R537H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	536						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACCAGCCGGCGGTCCCGCCC	0.642																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1606-1608)cGc>cAc		echinoderm microtubule associated protein like 3							44.0	57.0	52.0					11																	62373584		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62373584C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1607G>A	11.37:g.62373584C>T	ENSP00000378254:p.Arg536His					EML3_ENST00000529309.1_Missense_Mutation_p.R536H|EML3_ENST00000278845.4_Missense_Mutation_p.R537H|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Missense_Mutation_p.R319H	p.R536H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			13	1914	-			536					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1607G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463749	0.84425	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.31247	1.55;1.5;1.53;1.53;1.53	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.86028	2.79	0.58432	D	0.999998	D;P;D;D;D	0.89917	0.97;0.949;0.973;1.0;1.0	P;B;P;D;D	0.87578	0.637;0.312;0.55;0.991;0.998	T	0.66881	-0.5811	10	0.66056	D	0.02	-26.1227	16.3399	0.83079	0.0:1.0:0.0:0.0	.	536;536;319;537;508	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	H	536;537;319;508;536	ENSP00000378254:R536H;ENSP00000278845:R537H;ENSP00000433417:R319H;ENSP00000435064:R508H;ENSP00000434513:R536H	ENSP00000278845:R537H	R	-	2	0	EML3	62130160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.086000	0.76885	2.450000	0.82876	0.467000	0.42956	CGC		0.642	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		167	772	0	0	0	1	0	167	772				
ZNF790	388536	broad.mit.edu	37	19	37310733	37310733	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37310733T>C	ENST00000356725.4	-	5	633	c.513A>G	c.(511-513)gaA>gaG	p.E171E	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCTTTAAATTCATTCAGTT	0.383																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(511-513)gaA>gaG		zinc finger protein 790							109.0	108.0	108.0					19																	37310733		2203	4300	6503	SO:0001819	synonymous_variant	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310733T>C	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.513A>G	19.37:g.37310733T>C						CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.E171E	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	633	-	Esophageal squamous(110;0.183)		171						Silent	SNP	ENST00000356725.4	37	c.513A>G	CCDS12496.1																																																																																				0.383	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		104	412	0	0	0	1	0	104	412				
ERC1	23085	broad.mit.edu	37	12	1250905	1250905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1250905G>T	ENST00000397203.2	+	8	2095	c.1689G>T	c.(1687-1689)aaG>aaT	p.K563N	ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	563					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGACCTCAAGGACATGTTGG	0.428																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1687-1689)aaG>aaT		ELKS/RAB6-interacting/CAST family member 1							215.0	153.0	174.0					12																	1250905		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1250905G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1689G>T	12.37:g.1250905G>T	ENSP00000380386:p.Lys563Asn					ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N	p.K563N			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		8	2095	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		563					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1689G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231119	0.58777	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.08;0.69;0.69;0.69;-1.08;-1.08;0.69	5.65	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.58428	1.81	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.997;0.963;1.0	D	0.84186	0.0442	10	0.37606	T	0.19	-29.5886	14.3623	0.66782	0.0708:0.0:0.9292:0.0	.	311;203;535;535;563	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	N	535;563;535;535;263;535;535;263;563;563;563;535;311;203	ENSP00000340054:K535N;ENSP00000380386:K563N;ENSP00000438546:K535N;ENSP00000442976:K263N;ENSP00000442739:K563N;ENSP00000347621:K563N;ENSP00000354158:K563N;ENSP00000410064:K535N	ENSP00000299183:K263N	K	+	3	2	ERC1	1121166	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.356000	0.44116	1.380000	0.46344	0.655000	0.94253	AAG		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		34	176	1	0	2.47316e-13	1	2.66891e-13	34	176				
CSNK2A1	1457	broad.mit.edu	37	20	478425	478425	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:478425C>A	ENST00000217244.3	-	7	742		c.e7-1		CSNK2A1_ENST00000400217.2_Splice_Site|CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide						axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGTACAATTGCTGTTAAAGAC	0.343																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.e7-1		casein kinase 2, alpha 1 polypeptide							86.0	87.0	87.0					20																	478425		2203	4300	6503	SO:0001630	splice_region_variant	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:478425C>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.367-1G>T	20.37:g.478425C>A						CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000400217.1_Splice_Site|CSNK2A1_ENST00000460062.1_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site		NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		7	742	-		Breast(17;0.231)						B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Splice_Site	SNP	ENST00000217244.3	37		CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680195	0.88542	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4678	0.90762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK2A1	426425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.847000	0.97988	0.591000	0.81541	.		0.343	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895	Intron	37	199	1	0	4.14481e-20	1	4.63599e-20	37	199				
NOD2	64127	broad.mit.edu	37	16	50746021	50746021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50746021G>A	ENST00000300589.2	+	4	2304	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	733					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAAGAGCGTGCATGCCATGC	0.677																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2197-2199)gtG>gtA		nucleotide-binding oligomerization domain containing 2							62.0	54.0	57.0					16																	50746021		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50746021G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2199G>A	16.37:g.50746021G>A							p.V733V	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	2304	+		all_cancers(37;0.0156)	733					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.2199G>A	CCDS10746.1																																																																																				0.677	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		65	305	0	0	0	1	0	65	305				
RPS6KA4	8986	broad.mit.edu	37	11	64132779	64132779	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64132779G>A	ENST00000334205.4	+	9	978	c.913G>A	c.(913-915)Gat>Aat	p.D305N	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.D305N	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	305	AGC-kinase C-terminal.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCAGGGCCTCGATTGGGTGGC	0.597																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(913-915)Gat>Aat		ribosomal protein S6 kinase, 90kDa, polypeptide 4							61.0	62.0	62.0					11																	64132779		2201	4297	6498	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64132779G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.913G>A	11.37:g.64132779G>A	ENSP00000333896:p.Asp305Asn					RPS6KA4_ENST00000334205.4_Missense_Mutation_p.D305N|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N	p.D305N	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			9	1001	+			305			AGC-kinase C-terminal.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.913G>A	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	5.355	0.250875	0.10130	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.05	5.05	0.67936	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.052494	0.64402	D	0.000001	T	0.39332	0.1074	N	0.17474	0.49	0.41103	D	0.985687	B;B;B;B	0.25169	0.037;0.119;0.045;0.037	B;B;B;B	0.15484	0.011;0.008;0.008;0.013	T	0.28073	-1.0055	10	0.12430	T	0.62	.	15.8721	0.79129	0.0:0.0:1.0:0.0	.	305;305;305;305	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	N	305;305;305;289	ENSP00000435580:D305N;ENSP00000333896:D305N;ENSP00000294261:D305N;ENSP00000432945:D289N	ENSP00000294261:D305N	D	+	1	0	RPS6KA4	63889355	1.000000	0.71417	0.984000	0.44739	0.049000	0.14656	5.253000	0.65452	2.363000	0.80096	0.471000	0.43371	GAT		0.597	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		50	254	0	0	0	1	0	50	254				
USP2	9099	broad.mit.edu	37	11	119244150	119244150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119244150G>A	ENST00000260187.2	-	2	335	c.41C>T	c.(40-42)tCg>tTg	p.S14L	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	14	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTAGCGGGCCGATTCTGTGTA	0.592																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(40-42)tCg>tTg		ubiquitin specific peptidase 2							45.0	31.0	36.0					11																	119244150		2196	4292	6488	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119244150G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.41C>T	11.37:g.119244150G>A	ENSP00000260187:p.Ser14Leu					USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	p.S14L	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	335	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	14			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.41C>T	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817379	0.70912	.	.	ENSG00000036672	ENST00000260187;ENST00000531070;ENST00000527843	T	0.24350	1.86	5.37	4.45	0.53987	.	0.165377	0.40064	N	0.001193	T	0.13457	0.0326	L	0.29908	0.895	0.80722	D	1	P	0.48998	0.918	B	0.26864	0.074	T	0.05321	-1.0892	10	0.72032	D	0.01	-1.859	10.842	0.46722	0.0865:0.0:0.9135:0.0	.	14	O75604	UBP2_HUMAN	L	14	ENSP00000260187:S14L	ENSP00000260187:S14L	S	-	2	0	USP2	118749360	1.000000	0.71417	0.883000	0.34634	0.990000	0.78478	5.241000	0.65384	2.507000	0.84556	0.561000	0.74099	TCG		0.592	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		37	212	0	0	0	1	0	37	212				
KIR3DL1	3811	broad.mit.edu	37	19	55282321	55282321	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55282321G>A	ENST00000538269.1	+	1	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.A19T|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19T			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.A19S(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCTGCAGGGGGCCTGGCCACA	0.562																																						ENST00000336077.6																			1	Substitution - Missense(1)	p.A19S(1)	lung(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(55-57)Gcc>Acc		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							68.0	56.0	60.0					19																	55282321		1508	2879	4387	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55282321G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+46286G>A	19.37:g.55282321G>A						KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19T|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	p.A19T	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	95	+			19					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.55G>A		.	.	.	.	.	.	.	.	.	.	G	6.969	0.548676	0.13312	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00466	7.24;7.23	0.704	-0.819	0.10829	.	.	.	.	.	T	0.00328	0.0010	L	0.37897	1.145	0.09310	N	1	B;B	0.25007	0.116;0.021	B;B	0.25987	0.065;0.015	T	0.40701	-0.9549	9	0.72032	D	0.01	.	4.11	0.10055	0.7308:0.0:0.2692:0.0	.	19;19	Q6IST4;Q6H2H3	.;.	T	19	ENSP00000336769:A19T;ENSP00000291633:A19T	ENSP00000291633:A19T	A	+	1	0	KIR2DL1	59974133	0.006000	0.16342	0.002000	0.10522	0.001000	0.01503	0.873000	0.28052	-0.279000	0.09167	-0.507000	0.04495	GCC		0.562	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		227	390	0	0	0	1	0	227	390				
ADAMTS3	9508	broad.mit.edu	37	4	73414462	73414462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73414462C>T	ENST00000286657.4	-	3	273	c.237G>A	c.(235-237)caG>caA	p.Q79Q	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	79					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAAAGAACAACTGCTCAGGGT	0.483																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(235-237)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							102.0	95.0	98.0					4																	73414462		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414462C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.237G>A	4.37:g.73414462C>T						ADAMTS3_ENST00000505193.1_5'UTR	p.Q79Q	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	273	-			79					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.237G>A	CCDS3553.1																																																																																				0.483	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			90	336	0	0	0	1	0	90	336				
ZFHX4	79776	broad.mit.edu	37	8	77768068	77768068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77768068C>T	ENST00000521891.2	+	10	9359	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2926					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R2955C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCCCAAACGCGTAGTCCA	0.433										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.R2955C(1)	kidney(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8911-8913)Cgc>Tgc		zinc finger homeobox 4							62.0	58.0	60.0					8																	77768068		1944	4141	6085	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768068C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8911C>T	8.37:g.77768068C>T	ENSP00000430497:p.Arg2971Cys	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C	p.R2971C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9359	+			2926					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8911C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122163	0.56613	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.43416	U	0.000569	D	0.98611	0.9535	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.99478	1.0947	10	0.87932	D	0	.	18.8924	0.92410	0.0:1.0:0.0:0.0	.	2926;2926;2971	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2971;2955;2926;2926;2945	ENSP00000430497:R2971C;ENSP00000399605:R2926C;ENSP00000050961:R2926C;ENSP00000430848:R2945C	ENSP00000050961:R2926C	R	+	1	0	ZFHX4	77930623	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.780000	0.68956	2.696000	0.92011	0.655000	0.94253	CGC		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	171	0	0	0	1	0	25	171				
HEATR2	54919	broad.mit.edu	37	7	801405	801405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:801405C>T	ENST00000297440.6	+	7	1506	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	496						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCTGGAGCGCCTGCTGCT	0.587																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1486-1488)Cgc>Tgc		HEAT repeat containing 2							89.0	63.0	72.0					7																	801405		2201	4300	6501	SO:0001583	missense	54919						protein binding	g.chr7:801405C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1486C>T	7.37:g.801405C>T	ENSP00000297440:p.Arg496Cys					HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	p.R496C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	7	1506	+		Ovarian(82;0.0112)	496					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1486C>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.47|15.47	2.842869|2.842869	0.51057|0.51057	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.31510	.|1.49;1.49	5.38|5.38	2.45|2.45	0.29901|0.29901	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320952	.|0.33895	.|N	.|0.004444	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.22421|0.22421	0.69|0.69	0.32099|0.32099	N|N	0.590828|0.590828	.|D;D	.|0.63046	.|0.987;0.992	.|B;P	.|0.49502	.|0.409;0.613	T|T	0.24048|0.24048	-1.0171|-1.0171	5|10	.|0.45353	.|T	.|0.12	-17.9518|-17.9518	8.198|8.198	0.31409|0.31409	0.3049:0.621:0.0:0.0741|0.3049:0.621:0.0:0.0741	.|.	.|496;242	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	V|C	297|496;496;242	.|ENSP00000297440:R496C;ENSP00000321451:R496C	.|ENSP00000297440:R496C	A|R	+|+	2|1	0|0	HEATR2|HEATR2	767931|767931	0.999000|0.999000	0.42202|0.42202	0.913000|0.913000	0.36048|0.36048	0.296000|0.296000	0.27459|0.27459	1.696000|1.696000	0.37773|0.37773	0.186000|0.186000	0.20125|0.20125	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.587	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		17	52	0	0	0	1	0	17	52				
UBXN2A	165324	broad.mit.edu	37	2	24194191	24194191	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24194191A>G	ENST00000309033.4	+	3	331	c.87A>G	c.(85-87)caA>caG	p.Q29Q	UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000535786.1_Silent_p.Q29Q|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	29					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTAATAATCAACAATCAAATT	0.333																																						ENST00000309033.4																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						c.(85-87)caA>caG		UBX domain protein 2A							134.0	142.0	140.0					2																	24194191		2203	4300	6503	SO:0001819	synonymous_variant	165324							g.chr2:24194191A>G	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.87A>G	2.37:g.24194191A>G						UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Silent_p.Q29Q	p.Q29Q	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN			3	331	+			29					A8K577|B7ZKP8|Q569G8	Silent	SNP	ENST00000309033.4	37	c.87A>G	CCDS1704.1																																																																																				0.333	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		153	374	0	0	0	1	0	153	374				
ACSL6	23305	broad.mit.edu	37	5	131305833	131305833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131305833C>T	ENST00000379240.1	-	15	1573	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379264.2_Missense_Mutation_p.D499N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	474					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.D499Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGTCCAGTCGCCAGGAGTG	0.498																																						ENST00000379264.2																			2	Substitution - Missense(2)	p.D499Y(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1495-1497)Gac>Aac		acyl-CoA synthetase long-chain family member 6							171.0	150.0	157.0					5																	131305833		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131305833C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1420G>A	5.37:g.131305833C>T	ENSP00000368542:p.Asp474Asn					ACSL6_ENST00000379240.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N	p.D499N	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	1603	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	474					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.1495G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.275160	0.95459	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.42	5.42	0.78866	AMP-dependent synthetase/ligase (1);	0.089346	0.85682	D	0.000000	T	0.64897	0.2640	M	0.84683	2.71	0.80722	D	1	P;D;D;P;D;D;D	0.61080	0.708;0.986;0.989;0.752;0.961;0.961;0.961	B;P;P;P;P;P;P	0.55508	0.401;0.534;0.777;0.537;0.534;0.534;0.534	T	0.71464	-0.4585	10	0.72032	D	0.01	.	19.2739	0.94023	0.0:1.0:0.0:0.0	.	474;489;464;474;399;499;499	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	N	474;499;489;399;399;499;485;474;383;474;454;474	ENSP00000368551:D474N;ENSP00000368566:D499N;ENSP00000368574:D489N;ENSP00000349608:D399N;ENSP00000368557:D399N;ENSP00000296869:D499N;ENSP00000368548:D485N;ENSP00000368546:D474N;ENSP00000445154:D383N;ENSP00000368542:D474N;ENSP00000413329:D454N;ENSP00000442124:D474N	ENSP00000296869:D499N	D	-	1	0	ACSL6	131333732	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.792000	0.85828	2.575000	0.86900	0.644000	0.83932	GAC		0.498	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		22	711	0	0	0	1	0	22	711				
CCDC138	165055	broad.mit.edu	37	2	109473334	109473334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109473334C>A	ENST00000295124.4	+	13	1661	c.1601C>A	c.(1600-1602)gCt>gAt	p.A534D	CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	534										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GAGTATCAGGCTGTTCCAGTA	0.373																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1600-1602)gCt>gAt		coiled-coil domain containing 138							155.0	160.0	158.0					2																	109473334		2203	4300	6503	SO:0001583	missense	165055							g.chr2:109473334C>A	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1601C>A	2.37:g.109473334C>A	ENSP00000295124:p.Ala534Asp					CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	p.A534D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			13	1661	+			534					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.1601C>A	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	c	18.97	3.735870	0.69189	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	T;T	0.46451	0.87;0.92	5.52	5.52	0.82312	.	0.137949	0.47852	D	0.000207	T	0.64136	0.2571	M	0.69823	2.125	0.40120	D	0.976589	D;D	0.89917	0.992;1.0	P;D	0.76575	0.9;0.988	T	0.67971	-0.5532	10	0.87932	D	0	-11.4975	15.6841	0.77396	0.0:0.8627:0.1373:0.0	.	534;534	Q96M89-2;Q96M89	.;CC138_HUMAN	D	534	ENSP00000411800:A534D;ENSP00000295124:A534D	ENSP00000295124:A534D	A	+	2	0	CCDC138	108839766	1.000000	0.71417	0.966000	0.40874	0.858000	0.48976	3.941000	0.56607	2.605000	0.88082	0.591000	0.81541	GCT		0.373	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		182	510	1	0	2.56026e-83	1	3.27821e-83	182	510				
BBS12	166379	broad.mit.edu	37	4	123664001	123664001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664001C>T	ENST00000314218.3	+	2	1147	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BBS12_ENST00000542236.1_Silent_p.C318C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	318					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTTCACTTGCTGTCTACCAG	0.378									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(952-954)tgC>tgT		Bardet-Biedl syndrome 12							82.0	70.0	74.0					4																	123664001		2203	4300	6503	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664001C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.954C>T	4.37:g.123664001C>T						BBS12_ENST00000314218.3_Silent_p.C318C	p.C318C	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	1335	+			318					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.954C>T	CCDS3728.1																																																																																				0.378	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		27	139	0	0	0	1	0	27	139				
CD2	914	broad.mit.edu	37	1	117297122	117297122	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297122T>G	ENST00000369478.3	+	1	116	c.8T>G	c.(7-9)tTt>tGt	p.F3C	CD2_ENST00000369477.1_Missense_Mutation_p.F3C	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	3					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGATGAGCTTTCCATGTAAA	0.438																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(7-9)tTt>tGt		CD2 molecule	Alefacept(DB00092)						122.0	114.0	117.0					1																	117297122		2203	4300	6503	SO:0001583	missense	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297122T>G	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.8T>G	1.37:g.117297122T>G	ENSP00000358490:p.Phe3Cys					CD2_ENST00000369477.1_Missense_Mutation_p.F3C	p.F3C	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	1	116	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	3					Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	c.8T>G	CCDS889.1	.	.	.	.	.	.	.	.	.	.	T	4.663	0.123267	0.08931	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.84589	-1.87	3.87	2.71	0.32032	.	0.941043	0.08871	N	0.881570	T	0.57315	0.2045	N	0.08118	0	0.09310	N	1	P;P;P	0.51653	0.79;0.947;0.947	B;B;B	0.44044	0.275;0.436;0.439	T	0.55392	-0.8148	10	0.87932	D	0	-4.8105	6.512	0.22226	0.215:0.0:0.0:0.785	.	3;3;3	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	C	3	ENSP00000358490:F3C	ENSP00000358489:F3C	F	+	2	0	CD2	117098645	0.009000	0.17119	0.001000	0.08648	0.002000	0.02628	1.691000	0.37721	0.624000	0.30286	0.460000	0.39030	TTT		0.438	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		80	334	0	0	0	1	0	80	334				
IRF8	3394	broad.mit.edu	37	16	85954818	85954818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85954818G>A	ENST00000268638.5	+	9	1633	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	404					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGTCTTCCGGATGTTTCCA	0.587																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1210-1212)cGg>cAg		interferon regulatory factor 8							63.0	68.0	66.0					16																	85954818		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85954818G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1211G>A	16.37:g.85954818G>A	ENSP00000268638:p.Arg404Gln					IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	p.R404Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			9	1633	+		Prostate(104;0.0771)	404					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.1211G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604648	0.87157	.	.	ENSG00000140968	ENST00000268638	D	0.95171	-3.63	5.63	5.63	0.86233	SMAD domain-like (1);SMAD/FHA domain (1);	0.108661	0.64402	D	0.000009	D	0.91801	0.7406	L	0.32530	0.975	0.45390	D	0.998373	D	0.55605	0.972	B	0.42522	0.39	D	0.92082	0.5673	10	0.49607	T	0.09	-44.2873	19.6783	0.95946	0.0:0.0:1.0:0.0	.	404	Q02556	IRF8_HUMAN	Q	404	ENSP00000268638:R404Q	ENSP00000268638:R404Q	R	+	2	0	IRF8	84512319	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	6.305000	0.72805	2.655000	0.90218	0.555000	0.69702	CGG		0.587	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		156	427	0	0	0	1	0	156	427				
THBS1	7057	broad.mit.edu	37	15	39885650	39885650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885650C>T	ENST00000260356.5	+	19	3213	c.3048C>T	c.(3046-3048)acC>acT	p.T1016T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1016	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCATCAACACCGAAAGGGACG	0.493																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3046-3048)acC>acT		thrombospondin 1	Becaplermin(DB00102)						209.0	212.0	211.0					15																	39885650		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885650C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3048C>T	15.37:g.39885650C>T							p.T1016T	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3213	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1016			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.3048C>T	CCDS32194.1																																																																																				0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		222	1117	0	0	0	1	0	222	1117				
SEMA4C	54910	broad.mit.edu	37	2	97529765	97529765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97529765G>A	ENST00000305476.5	-	11	1360	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	410	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)	p.R410C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCAGGGGGCGGCTCCACCGA	0.617																																						ENST00000305476.5																			1	Substitution - Missense(1)	p.R410C(1)	prostate(1)	NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1228-1230)Cgc>Tgc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							38.0	42.0	40.0					2																	97529765		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97529765G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1228C>T	2.37:g.97529765G>A	ENSP00000306844:p.Arg410Cys						p.R410C	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			11	1360	-			410			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1228C>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528016	0.85706	.	.	ENSG00000168758	ENST00000305476	T	0.34072	1.38	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.106709	0.64402	D	0.000004	T	0.67515	0.2901	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.63283	0.913;0.913	T	0.75328	-0.3356	10	0.87932	D	0	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	410;120	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	C	410	ENSP00000306844:R410C	ENSP00000306844:R410C	R	-	1	0	SEMA4C	96893492	0.599000	0.26891	1.000000	0.80357	0.981000	0.71138	2.829000	0.48128	2.667000	0.90743	0.561000	0.74099	CGC		0.617	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		37	180	0	0	0	1	0	37	180				
KHSRP	8570	broad.mit.edu	37	19	6426528	6426528	+	5'Flank	SNP	G	G	A	rs200583733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6426528G>A	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.R329W	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GCCAGGATCCGCTGGAGGACT	0.612																																					Colon(55;593 1006 2067 9135 22980)	ENST00000321510.6																			0				large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(985-987)Cgg>Tgg		solute carrier family 25, member 41		G	TRP/ARG	0,4102		0,0,2051	76.0	78.0	78.0		985	-9.2	0.0	19		78	1,8381		0,1,4190	yes	missense	SLC25A41	NM_173637.3	101	0,1,6241	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	329/371	6426528	1,12483	2051	4191	6242	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6426528G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6426528G>A	Exception_encountered						p.R329W	NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN			7	1053	-			329					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.985C>T	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221956	0.39300	0.0	1.19E-4	ENSG00000181240	ENST00000321510	T	0.80033	-1.33	4.59	-9.17	0.00691	Mitochondrial carrier domain (2);	.	.	.	.	T	0.80523	0.4639	M	0.65498	2.005	0.09310	N	0.999994	D	0.61080	0.989	P	0.55303	0.773	T	0.78226	-0.2286	9	0.72032	D	0.01	-3.5865	8.0935	0.30813	0.0643:0.0784:0.2695:0.5878	.	329	Q8N5S1	S2541_HUMAN	W	329	ENSP00000322649:R329W	ENSP00000322649:R329W	R	-	1	2	SLC25A41	6377528	0.001000	0.12720	0.000000	0.03702	0.186000	0.23388	-0.176000	0.09811	-1.904000	0.01092	-0.457000	0.05445	CGG		0.612	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			92	369	0	0	0	1	0	92	369				
ADAMTSL4	54507	broad.mit.edu	37	1	150525688	150525688	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525688C>T	ENST00000369038.2	+	3	594	c.393C>T	c.(391-393)caC>caT	p.H131H	ADAMTSL4_ENST00000369041.5_Silent_p.H131H|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.H131H|ADAMTSL4_ENST00000271643.4_Silent_p.H131H|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	131					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGCTTCCCACCTAGGGAGAG	0.642																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(391-393)caC>caT		ADAMTS-like 4							26.0	30.0	29.0					1																	150525688		2190	4283	6473	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525688C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.393C>T	1.37:g.150525688C>T						RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.H131H|ADAMTSL4_ENST00000369039.5_Silent_p.H131H|ADAMTSL4_ENST00000369041.5_Silent_p.H131H	p.H131H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	629	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		131					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.393C>T	CCDS955.1																																																																																				0.642	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		56	327	0	0	0	1	0	56	327				
PDCD11	22984	broad.mit.edu	37	10	105172912	105172912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105172912G>T	ENST00000369797.3	+	9	1112	c.1018G>T	c.(1018-1020)Gtt>Ttt	p.V340F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	340	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCGAACCAGAGTTGTGCACCT	0.592																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1018-1020)Gtt>Ttt		programmed cell death 11							121.0	101.0	108.0					10																	105172912		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105172912G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1018G>T	10.37:g.105172912G>T	ENSP00000358812:p.Val340Phe						p.V340F	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	9	1112	+		Colorectal(252;0.0747)|Breast(234;0.128)	340			S1 motif 3.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.1018G>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245882	0.39697	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17691	2.26	5.47	2.35	0.29111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	1.035590	0.07544	N	0.914350	T	0.14874	0.0359	L	0.40543	1.245	0.19300	N	0.99998	B	0.32939	0.391	B	0.31390	0.129	T	0.25606	-1.0127	10	0.54805	T	0.06	0.4907	7.2346	0.26062	0.1581:0.0:0.6925:0.1493	.	340	Q14690	RRP5_HUMAN	F	340	ENSP00000358812:V340F	ENSP00000358812:V340F	V	+	1	0	PDCD11	105162902	0.988000	0.35896	0.845000	0.33349	0.961000	0.63080	2.276000	0.43408	1.313000	0.45069	0.467000	0.42956	GTT		0.592	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			39	365	1	0	2.59497e-14	1	2.81812e-14	39	365				
CFAP221	200373	broad.mit.edu	37	2	120397378	120397378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120397378C>T	ENST00000413369.3	+	21	2242	c.2155C>T	c.(2155-2157)Cac>Tac	p.H719Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.H433Y	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CGGAATAATGCACTGGAAAAG	0.468																																						ENST00000602047.1																			0											c.(1297-1299)Cac>Tac									90.0	89.0	89.0					2																	120397378		2203	4300	6503	SO:0001583	missense	0					cilium	calmodulin binding	g.chr2:120397378C>T																												ENST00000413369.3:c.2155C>T	2.37:g.120397378C>T	ENSP00000393222:p.His719Tyr					PCDP1_ENST00000413369.3_Missense_Mutation_p.H719Y	p.H433Y			Q4G0U5	PCDP1_HUMAN			22	2409	+	Colorectal(110;0.196)		719						Missense_Mutation	SNP	ENST00000413369.3	37	c.1297C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375058	0.24857	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.13778	2.56	5.31	-2.63	0.06133	.	0.986712	0.08280	N	0.970138	T	0.07999	0.0200	N	0.14661	0.345	0.80722	D	1	P	0.45902	0.868	B	0.40134	0.32	T	0.37979	-0.9682	10	0.52906	T	0.07	-6.2867	9.6969	0.40163	0.7274:0.191:0.0:0.0816	.	719	Q4G0U5	PCDP1_HUMAN	Y	433;719	ENSP00000393222:H719Y	ENSP00000295220:H433Y	H	+	1	0	AC069154.2	120113848	0.747000	0.28283	0.977000	0.42913	0.208000	0.24298	-0.334000	0.07883	-0.266000	0.09339	0.655000	0.94253	CAC		0.468	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			51	160	0	0	0	1	0	51	160				
APCDD1	147495	broad.mit.edu	37	18	10471563	10471563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10471563G>A	ENST00000355285.5	+	3	633	c.279G>A	c.(277-279)agG>agA	p.R93R	APCDD1_ENST00000578882.1_Silent_p.R93R	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCATCACAAGGTCCTACAGAT	0.458																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(277-279)agG>agA		adenomatosis polyposis coli down-regulated 1							90.0	86.0	87.0					18																	10471563		2203	4300	6503	SO:0001819	synonymous_variant	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471563G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.279G>A	18.37:g.10471563G>A						APCDD1_ENST00000578882.1_Silent_p.R93R	p.R93R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	633	+			93						Silent	SNP	ENST00000355285.5	37	c.279G>A	CCDS11849.1																																																																																				0.458	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		58	265	0	0	0	1	0	58	265				
MAP2K4	6416	broad.mit.edu	37	17	11984701	11984701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11984701T>G	ENST00000353533.5	+	3	310	c.247T>G	c.(247-249)Tca>Gca	p.S83A	MAP2K4_ENST00000415385.3_Missense_Mutation_p.S94A|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	83					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CAGCATTGAGTCATCAGGAAA	0.378			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(280-282)Tca>Gca		mitogen-activated protein kinase kinase 4							82.0	78.0	79.0					17																	11984701		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11984701T>G	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.247T>G	17.37:g.11984701T>G	ENSP00000262445:p.Ser83Ala					MAP2K4_ENST00000353533.5_Missense_Mutation_p.S83A	p.S94A			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	4	333	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	83					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.280T>G	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573666	0.45902	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.72505	-0.55;-0.66	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.64997	1.995	0.80722	D	1	B;B	0.26975	0.165;0.103	B;B	0.30855	0.121;0.023	T	0.70666	-0.4809	10	0.59425	D	0.04	.	14.456	0.67416	0.0:0.0:0.0:1.0	.	94;83	P45985-2;P45985	.;MP2K4_HUMAN	A	83;94;60	ENSP00000262445:S83A;ENSP00000410402:S94A	ENSP00000262445:S83A	S	+	1	0	MAP2K4	11925426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.123000	0.65237	0.459000	0.35465	TCA		0.378	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			102	357	0	0	0	1	0	102	357				
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161575237G>A	ENST00000320285.4	-	4	666	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	152					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACCGTCTTGCGATCCTGCTCC	0.562																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(454-456)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 4							144.0	126.0	132.0					6																	161575237		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161575237G>A	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.454C>T	6.37:g.161575237G>A	ENSP00000314036:p.Arg152Cys					AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000366908.5_3'UTR	p.R152C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	4	666	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	152					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.454C>T	CCDS5280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195733|4.195733	0.78902|0.78902	.|.	.|.	ENSG00000026652|ENSG00000026652	ENST00000320285;ENST00000366906|ENST00000366911	D;D|.	0.91521|.	-2.86;-2.86|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Phospholipid/glycerol acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49695|0.49695	0.1572|0.1572	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.44946	1.0;1.0|0.846	D;D|B	0.73380|0.35899	0.98;0.973|0.213	T|T	0.66372|0.66372	-0.5940|-0.5940	10|8	0.87932|0.87932	D|D	0|0	-46.4133|-46.4133	12.3423|12.3423	0.55101|0.55101	0.0:0.0:0.8312:0.1687|0.0:0.0:0.8312:0.1687	.|.	152;152|95	B4DHC0;Q9NRZ5|B4DIY1	.;PLCD_HUMAN|.	C|L	152;90|95	ENSP00000314036:R152C;ENSP00000355873:R90C|.	ENSP00000314036:R152C|ENSP00000355878:S95L	R|S	-|-	1|2	0|0	AGPAT4|AGPAT4	161495227|161495227	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.867000|0.867000	0.49689|0.49689	6.093000|6.093000	0.71422|0.71422	2.290000|2.290000	0.77057|0.77057	0.651000|0.651000	0.88453|0.88453	CGC|TCG		0.562	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		81	349	0	0	0	1	0	81	349				
LMOD3	56203	broad.mit.edu	37	3	69168087	69168087	+	Silent	SNP	C	C	T	rs373942606		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69168087C>T	ENST00000420581.2	-	2	1598	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	LMOD3_ENST00000475434.1_Silent_p.S473S|LMOD3_ENST00000489031.1_Silent_p.S473S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	473						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCGGGGCCTGCGATGGCTTTT	0.557																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1417-1419)tcG>tcA		leiomodin 3 (fetal)		C		1,4099		0,1,2049	67.0	72.0	70.0		1419	-11.7	0.0	3		70	0,8420		0,0,4210	no	coding-synonymous	LMOD3	NM_198271.3		0,1,6259	TT,TC,CC		0.0,0.0244,0.0080		473/561	69168087	1,12519	2050	4210	6260	SO:0001819	synonymous_variant	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168087C>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1419G>A	3.37:g.69168087C>T						LMOD3_ENST00000475434.1_Silent_p.S473S|LMOD3_ENST00000489031.1_Silent_p.S473S	p.S473S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1598	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	473					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	c.1419G>A	CCDS46862.1																																																																																				0.557	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		33	149	0	0	0	1	0	33	149				
NPHP4	261734	broad.mit.edu	37	1	5965437	5965437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5965437C>T	ENST00000378156.4	-	15	2135	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	624					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACAGGTTCTGTAGCGCTG	0.512																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1870-1872)Gaa>Aaa		nephronophthisis 4							130.0	129.0	129.0					1																	5965437		1980	4172	6152	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5965437C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1870G>A	1.37:g.5965437C>T	ENSP00000367398:p.Glu624Lys					NPHP4_ENST00000478423.2_5'UTR	p.E624K	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	15	2135	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	624					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1870G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304596	0.23736	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86694	-2.16	5.52	4.41	0.53225	.	0.499991	0.19623	N	0.109877	T	0.79364	0.4433	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.26202	0.067	T	0.71447	-0.4590	10	0.66056	D	0.02	.	10.7746	0.46342	0.0:0.839:0.0:0.161	.	624	O75161	NPHP4_HUMAN	K	624;27	ENSP00000367398:E624K	ENSP00000367398:E624K	E	-	1	0	NPHP4	5888024	0.285000	0.24296	0.020000	0.16555	0.002000	0.02628	3.034000	0.49751	2.586000	0.87340	0.561000	0.74099	GAA		0.512	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			115	385	0	0	0	1	0	115	385				
RANBP6	26953	broad.mit.edu	37	9	6014119	6014119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014119G>T	ENST00000259569.5	-	1	1499	c.1489C>A	c.(1489-1491)Cta>Ata	p.L497I	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	497					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACGGAATGTAGATTTTTCACC	0.383																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1489-1491)Cta>Ata		RAN binding protein 6							49.0	44.0	46.0					9																	6014119		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014119G>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1489C>A	9.37:g.6014119G>T	ENSP00000259569:p.Leu497Ile					RANBP6_ENST00000485372.1_5'UTR	p.L497I	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1499	-		Acute lymphoblastic leukemia(23;0.158)	497					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1489C>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990396	0.35131	.	.	ENSG00000137040	ENST00000259569	T	0.22945	1.93	3.89	1.9	0.25705	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.30947	0.0781	M	0.83953	2.67	0.58432	D	0.999999	P;P	0.40553	0.53;0.721	B;P	0.44447	0.333;0.45	T	0.07947	-1.0746	10	0.54805	T	0.06	-4.0108	2.0615	0.03593	0.2887:0.0:0.4467:0.2646	.	85;497	B4DTX6;O60518	.;RNBP6_HUMAN	I	497	ENSP00000259569:L497I	ENSP00000259569:L497I	L	-	1	2	RANBP6	6004119	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	2.717000	0.47227	0.521000	0.28445	0.650000	0.86243	CTA		0.383	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		6	166	1	0	3.59834e-05	1	3.67436e-05	6	166				
ITSN2	50618	broad.mit.edu	37	2	24471562	24471562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24471562G>A	ENST00000355123.4	-	27	3667	c.3224C>T	c.(3223-3225)gCa>gTa	p.A1075V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V|ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1075	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTCCTGGTGCAAGGCTAAG	0.343																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(3223-3225)gCa>gTa		intersectin 2							45.0	45.0	45.0					2																	24471562		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24471562G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3224C>T	2.37:g.24471562G>A	ENSP00000347244:p.Ala1075Val					ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V|ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V	p.A1075V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			27	3667	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1075			SH3 4.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.3224C>T	CCDS1710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.559103|3.559103	0.65538|0.65538	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921|ENST00000416160	T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Src homology-3 domain (4);|.	0.000000|.	0.31721|.	U|.	0.007178|.	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.29908|0.29908	0.895|0.895	0.46631|0.46631	D|D	0.999137|0.999137	P;P;P|.	0.47484|.	0.873;0.873;0.896|.	P;P;P|.	0.48952|.	0.461;0.461;0.596|.	T|T	0.50972|0.50972	-0.8764|-0.8764	10|5	0.62326|.	D|.	0.03|.	.|.	20.3312|20.3312	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1075;1048;1075|.	Q9NZM3-3;Q9NZM3-2;Q9NZM3|.	.;.;ITSN2_HUMAN|.	V|Y	1048;1075;1048;1075|3	ENSP00000354561:A1048V;ENSP00000347244:A1075V;ENSP00000370250:A1048V;ENSP00000384499:A1075V|.	ENSP00000347244:A1075V|.	A|H	-|-	2|1	0|0	ITSN2|ITSN2	24325066|24325066	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.334000|4.334000	0.59291|0.59291	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		29	246	0	0	0	1	0	29	246				
UPB1	51733	broad.mit.edu	37	22	24891453	24891453	+	Missense_Mutation	SNP	G	G	A	rs141896929	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24891453G>A	ENST00000326010.5	+	1	426	c.82G>A	c.(82-84)Gtt>Att	p.V28I	UPB1_ENST00000382760.2_Missense_Mutation_p.V28I|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|UPB1_ENST00000413389.2_Missense_Mutation_p.R17H|ADORA2A-AS1_ENST00000412790.1_RNA	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	28					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGTGAAGCGCGTTCTCTATGG	0.637													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0					ENST00000413389.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(49-51)cGt>cAt		ureidopropionase, beta		G	ILE/VAL	40,4366	43.1+/-76.7	0,40,2163	73.0	63.0	67.0		82	0.4	0.9	22	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UPB1	NM_016327.2	29	0,41,6462	AA,AG,GG		0.0116,0.9079,0.3152	benign	28/385	24891453	41,12965	2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24891453G>A	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.82G>A	22.37:g.24891453G>A	ENSP00000324343:p.Val28Ile					UPB1_ENST00000382760.2_Missense_Mutation_p.V28I|UPB1_ENST00000326010.5_Missense_Mutation_p.V28I	p.R17H			Q9UBR1	BUP1_HUMAN			2	1643	+	Colorectal(2;0.0339)		0					A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.50G>A	CCDS13827.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.46|16.46	3.129310|3.129310	0.56721|0.56721	0.009079|0.009079	1.16E-4|1.16E-4	ENSG00000100024|ENSG00000100024	ENST00000413389|ENST00000326010;ENST00000382760;ENST00000426507	D|T;T	0.83419|0.77620	-1.72|-1.11;-1.11	5.1|5.1	0.391|0.391	0.16282|0.16282	.|.	.|0.482685	.|0.23386	.|N	.|0.048743	T|T	0.30355|0.30355	0.0762|0.0762	N|N	0.01168|0.01168	-0.975|-0.975	0.21416|0.21416	N|N	0.999692|0.999692	B|B	0.02656|0.06786	0.0|0.001	B|B	0.01281|0.04013	0.0|0.001	T|T	0.38950|0.38950	-0.9637|-0.9637	9|10	0.48119|0.02654	T|T	0.1|1	0.7381|0.7381	4.0678|4.0678	0.09868|0.09868	0.434:0.3568:0.2092:0.0|0.434:0.3568:0.2092:0.0	.|.	17|28	E7EUZ5|Q9UBR1	.|BUP1_HUMAN	H|I	17|28	ENSP00000406057:R17H|ENSP00000324343:V28I;ENSP00000372208:V28I	ENSP00000406057:R17H|ENSP00000324343:V28I	R|V	+|+	2|1	0|0	UPB1|UPB1	23221453|23221453	0.006000|0.006000	0.16342|0.16342	0.938000|0.938000	0.37757|0.37757	0.928000|0.928000	0.56348|0.56348	-0.076000|-0.076000	0.11412|0.11412	-0.144000|-0.144000	0.11314|0.11314	0.585000|0.585000	0.79938|0.79938	CGT|GTT		0.637	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			78	340	0	0	0	1	0	78	340				
SLC9B2	133308	broad.mit.edu	37	4	103947602	103947602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103947602G>A	ENST00000394785.3	-	12	2170	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503103.1_Missense_Mutation_p.P411S|SLC9B2_ENST00000362026.3_Silent_p.G513G|SLC9B2_ENST00000503230.1_Silent_p.G456G	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	513					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										GAAGCCTGGGGCCCAGTAAAC	0.418																																						ENST00000503103.1																			0											c.(1231-1233)Ccc>Tcc		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							104.0	105.0	104.0					4																	103947602		2203	4300	6503	SO:0001819	synonymous_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103947602G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1539C>T	4.37:g.103947602G>A						SLC9B2_ENST00000394785.3_Silent_p.G513G|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000362026.3_Silent_p.G513G|SLC9B2_ENST00000503230.1_Silent_p.G456G	p.P411S			Q86UD5	NHDC2_HUMAN			10	1421	-			0					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.1231C>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499285	0.44455	.	.	ENSG00000164038	ENST00000503103	T	0.25749	1.78	5.13	2.38	0.29361	.	.	.	.	.	T	0.15869	0.0382	.	.	.	0.80722	D	1	B	0.21071	0.051	B	0.14023	0.01	T	0.20042	-1.0287	8	0.72032	D	0.01	-11.9595	0.8158	0.01102	0.2352:0.1724:0.3751:0.2173	.	411	B7Z676	.	S	411	ENSP00000425385:P411S	ENSP00000425385:P411S	P	-	1	0	SLC9B2	104167051	0.087000	0.21565	1.000000	0.80357	0.970000	0.65996	-0.645000	0.05409	0.517000	0.28361	0.585000	0.79938	CCC		0.418	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		107	444	0	0	0	1	0	107	444				
IGSF9	57549	broad.mit.edu	37	1	159897170	159897170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897170G>A	ENST00000368094.1	-	21	3702	c.3505C>T	c.(3505-3507)Cca>Tca	p.P1169S	TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1169					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGGGACTGGCTGTCGATAG	0.622																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3505-3507)Cca>Tca		immunoglobulin superfamily, member 9							52.0	56.0	55.0					1																	159897170		2109	4133	6242	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159897170G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3505C>T	1.37:g.159897170G>A	ENSP00000357073:p.Pro1169Ser					IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S|IGSF9_ENST00000493195.1_5'UTR	p.P1169S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3702	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1169						Missense_Mutation	SNP	ENST00000368094.1	37	c.3505C>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	2.757	-0.258667	0.05791	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.63096	-0.02;0.07	4.89	1.85	0.25348	.	0.178280	0.27258	N	0.020195	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.23440	-1.0188	9	.	.	.	-1.1824	2.9334	0.05807	0.1012:0.1792:0.5347:0.1849	.	1169;707	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1153;1169;707	ENSP00000355049:P1153S;ENSP00000357073:P1169S	.	P	-	1	0	IGSF9	158163794	1.000000	0.71417	0.037000	0.18230	0.431000	0.31685	1.311000	0.33562	0.208000	0.20626	0.563000	0.77884	CCA		0.622	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		89	519	0	0	0	1	0	89	519				
RPTOR	57521	broad.mit.edu	37	17	78933943	78933943	+	Silent	SNP	C	C	T	rs138030342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78933943C>T	ENST00000306801.3	+	30	3905	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I1023I|CTD-2561B21.3_ENST00000571591.1_RNA	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1181					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCTCACTCATCGTGGCTGGCC	0.622																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(3541-3543)atC>atT		regulatory associated protein of MTOR, complex 1		C	,	0,4406		0,0,2203	130.0	88.0	102.0		3069,3543	-1.0	1.0	17	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1023/1178,1181/1336	78933943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78933943C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3543C>T	17.37:g.78933943C>T						RPTOR_ENST00000544334.2_Silent_p.I1023I|RPTOR_ENST00000575542.1_3'UTR	p.I1181I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			30	3905	+			1181					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.3543C>T	CCDS11773.1																																																																																				0.622	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		40	303	0	0	0	1	0	40	303				
PDE1A	5136	broad.mit.edu	37	2	183387083	183387083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183387083C>T	ENST00000410103.1	-	2	104	c.21G>A	c.(19-21)gaG>gaA	p.E7E	PDE1A_ENST00000456212.1_Silent_p.E7E|PDE1A_ENST00000358139.2_Silent_p.E7E|PDE1A_ENST00000435564.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E|PDE1A_ENST00000536095.1_5'Flank	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	7					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ATTCTTCAATCTCTGTGGCAC	0.408																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(19-21)gaG>gaA		phosphodiesterase 1A, calmodulin-dependent							149.0	145.0	146.0					2																	183387083		2202	4299	6501	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183387083C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.21G>A	2.37:g.183387083C>T						PDE1A_ENST00000358139.2_Silent_p.E7E|PDE1A_ENST00000410103.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E|PDE1A_ENST00000456212.1_Silent_p.E7E	p.E7E	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		1	221	-			7					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.21G>A	CCDS33344.1																																																																																				0.408	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			93	490	0	0	0	1	0	93	490				
NUP210	23225	broad.mit.edu	37	3	13419017	13419017	+	Missense_Mutation	SNP	C	C	T	rs555632447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13419017C>T	ENST00000254508.5	-	9	1173	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	364					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCATACAGGCGGCCGGTCTC	0.567													C|||	3	0.000599042	0.0	0.0	5008	,	,		15670	0.0		0.0	False		,,,				2504	0.0031					ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1090-1092)cGc>cAc		nucleoporin 210kDa							136.0	134.0	135.0					3																	13419017		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13419017C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1091G>A	3.37:g.13419017C>T	ENSP00000254508:p.Arg364His						p.R364H	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			9	1173	-	all_neural(104;0.187)		364					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.1091G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804583	0.31869	.	.	ENSG00000132182	ENST00000254508	T	0.05649	3.41	4.93	4.04	0.47022	.	0.111045	0.64402	N	0.000013	T	0.08179	0.0204	M	0.62016	1.91	0.51482	D	0.999925	B;B	0.32128	0.131;0.357	B;B	0.23716	0.042;0.048	T	0.08994	-1.0695	10	0.51188	T	0.08	.	12.0113	0.53289	0.0:0.9134:0.0:0.0866	.	364;364	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	H	364	ENSP00000254508:R364H	ENSP00000254508:R364H	R	-	2	0	NUP210	13394017	1.000000	0.71417	0.993000	0.49108	0.029000	0.11900	5.529000	0.67135	1.040000	0.40099	0.591000	0.81541	CGC		0.567	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		136	741	0	0	0	1	0	136	741				
IGJ	3512	broad.mit.edu	37	4	71522187	71522187	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71522187G>T	ENST00000254801.4	-	4	508	c.339C>A	c.(337-339)atC>atA	p.I113I	IGJ_ENST00000543780.1_Silent_p.I129I|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	113					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CTTCATCACAGATATTGCTCT	0.418																																						ENST00000254801.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(337-339)atC>atA		immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides							180.0	145.0	157.0					4																	71522187		2203	4300	6503	SO:0001819	synonymous_variant	3512				immune response	extracellular region	antigen binding	g.chr4:71522187G>T	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.339C>A	4.37:g.71522187G>T						IGJ_ENST00000543780.1_Silent_p.I129I|ENAM_ENST00000472903.1_Intron	p.I113I	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	Lung(101;0.235)		4	508	-			113						Silent	SNP	ENST00000254801.4	37	c.339C>A	CCDS3545.1																																																																																				0.418	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		69	254	1	0	8.83742e-36	1	1.05621e-35	69	254				
TRPM3	80036	broad.mit.edu	37	9	73233803	73233803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73233803G>A	ENST00000377111.2	-	16	2545	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	TRPM3_ENST00000357533.2_Missense_Mutation_p.R772C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R615C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R627C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R640C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R630C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R640C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R630C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R795C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R617C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R627C|TRPM3_ENST00000377110.3_Missense_Mutation_p.R768C	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	793					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGTTCTTGCGCATGCGGAGC	0.622																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2302-2304)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 3							52.0	48.0	49.0					9																	73233803		2203	4299	6502	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73233803G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2302C>T	9.37:g.73233803G>A	ENSP00000366315:p.Arg768Cys					TRPM3_ENST00000377111.2_Missense_Mutation_p.R768C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R640C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R640C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R617C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R795C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R615C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R630C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R627C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R627C|TRPM3_ENST00000357533.2_Missense_Mutation_p.R772C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R630C	p.R768C	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			16	2545	-			793					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2302C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.222709|4.222709	0.79464|0.79464	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.65|5.65	3.67|3.67	0.42095|0.42095	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84433|0.84433	0.5471|0.5471	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.98;1.0;1.0;1.0	.|D;D;D;D;P;D;D;D	.|0.79784	.|0.988;0.969;0.983;0.978;0.53;0.978;0.993;0.964	D|D	0.87201|0.87201	0.2241|0.2241	5|10	.|0.87932	.|D	.|0	-18.3508|-18.3508	16.3867|16.3867	0.83507|0.83507	0.0:0.0:0.7511:0.2489|0.0:0.0:0.7511:0.2489	.|.	.|768;768;758;772;630;627;740;615	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	V|C	616|768;768;640;630;627;772;627;615;640;630;795	.|ENSP00000366315:R768C;ENSP00000366314:R768C;ENSP00000366310:R640C;ENSP00000354066:R630C;ENSP00000366309:R627C;ENSP00000350140:R772C;ENSP00000386127:R627C;ENSP00000379581:R615C;ENSP00000379587:R640C;ENSP00000350791:R630C;ENSP00000389542:R795C	.|ENSP00000350140:R772C	A|R	-|-	2|1	0|0	TRPM3|TRPM3	72423623|72423623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.986000|2.986000	0.49370|0.49370	1.600000|1.600000	0.50102|0.50102	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		58	251	0	0	0	1	0	58	251				
SERPINB12	89777	broad.mit.edu	37	18	61231236	61231236	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61231236G>T	ENST00000269491.1	+	5	528	c.528G>T	c.(526-528)aaG>aaT	p.K176N	SERPINB12_ENST00000382768.1_Missense_Mutation_p.K196N	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	176					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCTTCAGCAAGGACGCTATTA	0.368																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(586-588)aaG>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 12							186.0	164.0	171.0					18																	61231236		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61231236G>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.528G>T	18.37:g.61231236G>T	ENSP00000269491:p.Lys176Asn					SERPINB12_ENST00000269491.1_Missense_Mutation_p.K176N	p.K196N			Q96P63	SPB12_HUMAN			5	588	+			176					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.588G>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894220	0.52121	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84873	-1.91;-1.91	5.57	2.78	0.32641	Serpin domain (3);	0.358223	0.27035	N	0.021254	D	0.82444	0.5038	L	0.53729	1.69	0.24583	N	0.993861	B;P	0.40578	0.324;0.722	B;P	0.46172	0.31;0.506	T	0.71178	-0.4669	10	0.30854	T	0.27	.	7.3732	0.26813	0.4014:0.0:0.5986:0.0	.	196;176	Q3SYB4;Q96P63	.;SPB12_HUMAN	N	176;196	ENSP00000269491:K176N;ENSP00000372218:K196N	ENSP00000269491:K176N	K	+	3	2	SERPINB12	59382216	0.000000	0.05858	0.945000	0.38365	0.902000	0.53008	-0.617000	0.05584	0.834000	0.34852	0.655000	0.94253	AAG		0.368	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		94	462	1	0	3.10062e-51	1	3.84706e-51	94	462				
DMAP1	55929	broad.mit.edu	37	1	44684367	44684367	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44684367T>C	ENST00000372289.2	+	5	923	c.660T>C	c.(658-660)gcT>gcC	p.A220A	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.A220A|DMAP1_ENST00000361745.6_Silent_p.A220A	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	220					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TATTTGATGCTGGGCACGAAC	0.567											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(658-660)gcT>gcC		DNA methyltransferase 1 associated protein 1							120.0	114.0	116.0					1																	44684367		2203	4300	6503	SO:0001819	synonymous_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44684367T>C	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.660T>C	1.37:g.44684367T>C			OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Silent_p.A220A|DMAP1_ENST00000315913.5_Silent_p.A220A	p.A220A	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN			5	923	+	Acute lymphoblastic leukemia(166;0.155)		220					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	c.660T>C	CCDS509.1																																																																																				0.567	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		85	293	0	0	0	1	0	85	293				
GRM5	2915	broad.mit.edu	37	11	88780583	88780583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88780583G>T	ENST00000305447.4	-	1	607	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y|GRM5_ENST00000418177.2_Missense_Mutation_p.S153Y	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	153					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AATGGCTACAGAACTGGAGCC	0.502																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(457-459)tCt>tAt		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						58.0	54.0	55.0					11																	88780583		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780583G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.458C>A	11.37:g.88780583G>T	ENSP00000306138:p.Ser153Tyr					GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000305447.4_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y	p.S153Y			P41594	GRM5_HUMAN			2	825	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	153					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.458C>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341825	0.81911	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	D	0.93017	0.6437	9	.	.	.	.	19.1788	0.93614	0.0:0.0:1.0:0.0	.	153;153;153	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	Y	153	ENSP00000402912:S153Y;ENSP00000405690:S153Y;ENSP00000305905:S153Y;ENSP00000306138:S153Y;ENSP00000376975:S153Y;ENSP00000376972:S153Y	.	S	-	2	0	GRM5	88420231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.713000	0.84693	2.514000	0.84764	0.563000	0.77884	TCT		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		29	284	1	0	3.65163e-15	1	3.98403e-15	29	284				
PDE8A	5151	broad.mit.edu	37	15	85658679	85658679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85658679C>T	ENST00000310298.4	+	16	1612	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	454					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGATGGTTTGCGAAGACTATC	0.358																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1360-1362)Cga>Tga		phosphodiesterase 8A							133.0	129.0	130.0					15																	85658679		2202	4299	6501	SO:0001587	stop_gained	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85658679C>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1360C>T	15.37:g.85658679C>T	ENSP00000311453:p.Arg454*					PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*	p.R454*			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		16	1612	+	Colorectal(223;0.227)		454					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Nonsense_Mutation	SNP	ENST00000310298.4	37	c.1360C>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	39	7.550329	0.98352	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	5.66	2.66	0.31614	.	0.068745	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5494	0.45079	0.1405:0.5885:0.271:0.0	.	.	.	.	X	454;454;408	.	ENSP00000311453:R454X	R	+	1	2	PDE8A	83459683	0.953000	0.32496	0.686000	0.30086	0.798000	0.45092	2.016000	0.40971	0.288000	0.22398	-0.176000	0.13171	CGA		0.358	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		21	135	0	0	0	1	0	21	135				
RASSF6	166824	broad.mit.edu	37	4	74442353	74442353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74442353C>A	ENST00000342081.3	-	9	1043	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	RASSF6_ENST00000307439.5_Missense_Mutation_p.D273Y|RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y|RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	305	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTTCTGCATCTTTATCCATG	0.433																																						ENST00000307439.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(817-819)Gat>Tat		Ras association (RalGDS/AF-6) domain family member 6							208.0	215.0	212.0					4																	74442353		2203	4300	6503	SO:0001583	missense	166824				apoptosis|signal transduction		protein binding	g.chr4:74442353C>A	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.913G>T	4.37:g.74442353C>A	ENSP00000340578:p.Asp305Tyr					RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y|RASSF6_ENST00000342081.3_Missense_Mutation_p.D305Y|RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y	p.D273Y	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		9	1111	-	Breast(15;0.00102)		305			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	c.817G>T	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643034	0.87859	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.34275	2.19;2.19;1.37;2.19	6.07	6.07	0.98685	Ras-association (2);	0.137026	0.64402	D	0.000005	T	0.65626	0.2709	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.68108	-0.5496	10	0.87932	D	0	-23.6135	18.1378	0.89627	0.0:1.0:0.0:0.0	.	261;239;305	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	Y	273;305;239;261	ENSP00000303877:D273Y;ENSP00000340578:D305Y;ENSP00000379123:D239Y;ENSP00000335582:D261Y	ENSP00000303877:D273Y	D	-	1	0	RASSF6	74661217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.565000	0.53798	2.884000	0.98904	0.655000	0.94253	GAT		0.433	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		154	718	1	0	5.54423e-67	1	7.01969e-67	154	718				
DOCK3	1795	broad.mit.edu	37	3	51399995	51399995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51399995C>T	ENST00000266037.9	+	49	5206	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1728					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCTCAGTCACCAACGTCTCT	0.557																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5182-5184)aCc>aTc		dedicator of cytokinesis 3							121.0	128.0	126.0					3																	51399995		2099	4219	6318	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51399995C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5183C>T	3.37:g.51399995C>T	ENSP00000266037:p.Thr1728Ile						p.T1728I	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	49	5206	+			1728					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5183C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832503	0.50845	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05139	3.49	5.26	5.26	0.73747	.	0.336637	0.33834	N	0.004503	T	0.07863	0.0197	L	0.40543	1.245	0.45427	D	0.998408	B	0.32968	0.392	B	0.31869	0.137	T	0.15350	-1.0440	10	0.56958	D	0.05	.	15.5861	0.76485	0.0:0.862:0.138:0.0	.	1728	Q8IZD9	DOCK3_HUMAN	I	1728;524	ENSP00000266037:T1728I	ENSP00000266037:T1728I	T	+	2	0	DOCK3	51375035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.702000	0.54800	2.605000	0.88082	0.563000	0.77884	ACC		0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		46	197	0	0	0	1	0	46	197				
CCDC129	223075	broad.mit.edu	37	7	31682312	31682312	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682312A>C	ENST00000407970.3	+	11	1366	c.1328A>C	c.(1327-1329)aAc>aCc	p.N443T	CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T|CCDC129_ENST00000319386.3_Missense_Mutation_p.N295T|CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	443										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTTGCCAAACAGCCAGAGT	0.493																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(883-885)aAc>aCc		coiled-coil domain containing 129							56.0	50.0	52.0					7																	31682312		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682312A>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1328A>C	7.37:g.31682312A>C	ENSP00000384416:p.Asn443Thr					CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T|CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T|CCDC129_ENST00000407970.3_Missense_Mutation_p.N443T	p.N295T			Q6ZRS4	CC129_HUMAN			11	1877	+			443					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.884A>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	7.414	0.635297	0.14322	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.17528	2.38;2.53;2.52;2.27	5.85	1.76	0.24704	.	0.781097	0.12237	N	0.486848	T	0.06234	0.0161	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14012	0.002;0.0;0.0;0.009	B;B;B;B	0.15870	0.004;0.001;0.001;0.014	T	0.43702	-0.9375	10	0.12766	T	0.61	-6.1587	6.3356	0.21294	0.2524:0.1471:0.6005:0.0	.	469;453;443;295	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	T	295;443;469;453;351	ENSP00000313062:N295T;ENSP00000384416:N443T;ENSP00000395835:N469T;ENSP00000387214:N351T	ENSP00000313062:N295T	N	+	2	0	CCDC129	31648837	0.016000	0.18221	0.194000	0.23346	0.007000	0.05969	0.518000	0.22847	0.405000	0.25532	-0.987000	0.02553	AAC		0.493	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		35	176	0	0	0	1	0	35	176				
TAS2R3	50831	broad.mit.edu	37	7	141464292	141464292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141464292G>A	ENST00000247879.2	+	1	396	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	112					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCTGAAAATCGCCAGTTTCTC	0.463																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(334-336)Gcc>Acc		taste receptor, type 2, member 3							257.0	235.0	242.0					7																	141464292		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464292G>A	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.334G>A	7.37:g.141464292G>A	ENSP00000247879:p.Ala112Thr					SSBP1_ENST00000465582.1_Intron	p.A112T	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	396	+	Melanoma(164;0.0171)		112					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.334G>A	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623043	0.66901	.	.	ENSG00000127362	ENST00000247879	T	0.36520	1.25	6.04	3.24	0.37175	.	0.226757	0.36167	N	0.002748	T	0.55417	0.1919	M	0.83312	2.635	0.25831	N	0.984168	D	0.89917	1.0	D	0.97110	1.0	T	0.51403	-0.8710	10	0.87932	D	0	.	3.2114	0.06684	0.1503:0.1377:0.5698:0.1422	.	112	Q9NYW6	TA2R3_HUMAN	T	112	ENSP00000247879:A112T	ENSP00000247879:A112T	A	+	1	0	TAS2R3	141110761	0.973000	0.33851	0.427000	0.26684	0.740000	0.42216	1.678000	0.37586	0.422000	0.26005	0.563000	0.77884	GCC		0.463	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			81	1015	0	0	0	1	0	81	1015				
BBS2	583	broad.mit.edu	37	16	56548368	56548368	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56548368T>A	ENST00000245157.5	-	2	762	c.342A>T	c.(340-342)agA>agT	p.R114S	BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	114					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TACTTGCCTCTCTGTAGAACA	0.353									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(340-342)agA>agT		Bardet-Biedl syndrome 2							70.0	67.0	68.0					16																	56548368		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56548368T>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.342A>T	16.37:g.56548368T>A	ENSP00000245157:p.Arg114Ser					BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	p.R114S	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			2	762	-			114					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.342A>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891511	0.52014	.	.	ENSG00000125124	ENST00000245157	D	0.83075	-1.68	5.4	5.4	0.78164	WD40 repeat-like-containing domain (1);	0.124466	0.64402	D	0.000003	T	0.79879	0.4522	L	0.61218	1.895	0.48830	D	0.999713	B;B	0.34399	0.452;0.452	B;B	0.33620	0.167;0.167	T	0.81013	-0.1125	10	0.87932	D	0	-14.9158	9.8741	0.41194	0.0:0.0764:0.0:0.9236	.	114;114	A8K0N9;Q9BXC9	.;BBS2_HUMAN	S	114	ENSP00000245157:R114S	ENSP00000245157:R114S	R	-	3	2	BBS2	55105869	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.690000	0.47001	2.050000	0.60909	0.482000	0.46254	AGA		0.353	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		58	251	0	0	0	1	0	58	251				
NRXN1	9378	broad.mit.edu	37	2	51255063	51255063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255063C>T	ENST00000406316.2	-	2	1825	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	NRXN1_ENST00000404971.1_Missense_Mutation_p.V117M|NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M|NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	117	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGATGCGCACGCTGTGCCAG	0.667																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(349-351)Gtg>Atg		neurexin 1							25.0	30.0	28.0					2																	51255063		2089	4207	6296	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255063C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.349G>A	2.37:g.51255063C>T	ENSP00000384311:p.Val117Met					NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M|NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000406316.2_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M	p.V117M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1688	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	117			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.349G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527919	0.85706	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.24547	U	0.037600	D	0.94823	0.8328	M	0.90483	3.12	0.49915	D	0.99983	D;D;D	0.89917	0.997;1.0;0.969	D;D;B	0.91635	0.964;0.999;0.379	D	0.95756	0.8796	10	0.72032	D	0.01	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	117;117;117	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	M	117	ENSP00000385142:V117M;ENSP00000384311:V117M;ENSP00000434015:V117M;ENSP00000385017:V117M;ENSP00000385434:V117M;ENSP00000385681:V117M;ENSP00000385310:V117M	ENSP00000385017:V117M	V	-	1	0	NRXN1	51108567	1.000000	0.71417	0.987000	0.45799	0.861000	0.49209	4.863000	0.62983	2.293000	0.77203	0.563000	0.77884	GTG		0.667	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			29	178	0	0	0	1	0	29	178				
SHROOM1	134549	broad.mit.edu	37	5	132160764	132160764	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160764G>A	ENST00000378679.3	-	5	1784	c.980C>T	c.(979-981)gCt>gTt	p.A327V	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Splice_Site_p.A327V|SHROOM1_ENST00000378676.1_Splice_Site_p.A327V	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	327					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGGGAACAGCCTGGAAGGG	0.532																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.e5-1		shroom family member 1							132.0	140.0	137.0					5																	132160764		2203	4300	6503	SO:0001630	splice_region_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160764G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.979-1C>T	5.37:g.132160764G>A						SHROOM1_ENST00000319854.3_Splice_Site_p.A327_splice|SHROOM1_ENST00000378676.1_Splice_Site_p.A327_splice	p.A327_splice	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1784	-			327					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Splice_Site	SNP	ENST00000378679.3	37	c.978_splice	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672525	0.29693	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.27890	1.64;1.64;1.64	4.64	1.7	0.24286	.	1.006700	0.07999	N	0.988432	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	B;B	0.26602	0.154;0.096	B;B	0.27262	0.078;0.036	T	0.31251	-0.9950	10	0.30854	T	0.27	-2.3592	4.3089	0.10960	0.2093:0.1905:0.6002:0.0	.	327;327	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	V	327	ENSP00000367950:A327V;ENSP00000324245:A327V;ENSP00000367947:A327V	ENSP00000324245:A327V	A	-	2	0	SHROOM1	132188663	0.463000	0.25799	0.782000	0.31804	0.183000	0.23260	0.542000	0.23222	0.562000	0.29204	0.561000	0.74099	GCT		0.532	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456	Missense_Mutation	13	416	0	0	0	1	0	13	416				
CCDC88C	440193	broad.mit.edu	37	14	91770280	91770280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91770280C>T	ENST00000389857.6	-	20	3486	c.3400G>A	c.(3400-3402)Gcg>Acg	p.A1134T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1134					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTGTACTGCGCGGTGAGCGCT	0.662																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3400-3402)Gcg>Acg		coiled-coil domain containing 88C							65.0	71.0	69.0					14																	91770280		2144	4243	6387	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91770280C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3400G>A	14.37:g.91770280C>T	ENSP00000374507:p.Ala1134Thr						p.A1134T	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			20	3486	-		all_cancers(154;0.0468)	1134					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3400G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307042	0.60305	.	.	ENSG00000015133	ENST00000389857	T	0.17054	2.3	5.52	3.69	0.42338	.	0.000000	0.48286	U	0.000192	T	0.22513	0.0543	L	0.46741	1.465	0.80722	D	1	D	0.61080	0.989	P	0.53518	0.728	T	0.01276	-1.1398	10	0.33141	T	0.24	-12.7778	8.6863	0.34240	0.2697:0.6613:0.0:0.069	.	1134	Q9P219	DAPLE_HUMAN	T	1134	ENSP00000374507:A1134T	ENSP00000374507:A1134T	A	-	1	0	CCDC88C	90840033	0.964000	0.33143	0.018000	0.16275	0.073000	0.16967	2.267000	0.43329	0.795000	0.33922	-0.258000	0.10820	GCG		0.662	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		67	374	0	0	0	1	0	67	374				
CTSE	1510	broad.mit.edu	37	1	206331211	206331211	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206331211C>T	ENST00000360218.2	+	8	1179	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTSE_ENST00000432969.2_Silent_p.L284L|CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000358184.2_3'UTR	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGTGCCTGCCTGTCTGACAG	0.483																																						ENST00000360218.2																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(1075-1077)Ctg>Ttg		cathepsin E							107.0	112.0	111.0					1																	206331211		2203	4300	6503	SO:0001819	synonymous_variant	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206331211C>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000360218.2:c.1075C>T	1.37:g.206331211C>T						CTSE_ENST00000358184.2_3'UTR|CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000432969.2_Silent_p.L284L	p.L359L	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		8	1179	+			0					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Silent	SNP	ENST00000360218.2	37	c.1075C>T	CCDS1461.1																																																																																				0.483	CTSE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087999.1	NM_001910		12	443	0	0	0	1	0	12	443				
SSPO	23145	broad.mit.edu	37	7	149477527	149477527	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149477527A>G	ENST00000378016.2	+	0	1598							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCCAGCGCTATGTACCCGGT	0.647																																						ENST00000378016.2																			0													SCO-spondin							31.0	41.0	38.0					7																	149477527		2164	4262	6426			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477527A>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477527A>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1598	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				14	115	0	0	0	1	0	14	115				
EFNA1	1942	broad.mit.edu	37	1	155104109	155104109	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155104109C>A	ENST00000368407.3	+	2	905	c.387C>A	c.(385-387)atC>atA	p.I129I	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Splice_Site_p.I129I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	129	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTACTACATCTGTGAGTGCC	0.522																																						ENST00000368407.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5						c.e2+1		ephrin-A1							49.0	44.0	46.0					1																	155104109		2203	4300	6503	SO:0001630	splice_region_variant	1942				angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding	g.chr1:155104109C>A		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.388+1C>A	1.37:g.155104109C>A						EFNA1_ENST00000368406.2_Splice_Site_p.I129_splice|EFNA1_ENST00000469878.1_3'UTR	p.I129_splice	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	905	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		129					D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Splice_Site	SNP	ENST00000368407.3	37	c.388_splice	CCDS1091.1																																																																																				0.522	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428	Silent	53	151	1	0	3.28156e-27	1	3.79657e-27	53	151				
ZNF268	10795	broad.mit.edu	37	12	133780923	133780923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133780923G>T	ENST00000536435.2	+	6	2981	c.2651G>T	c.(2650-2652)aGa>aTa	p.R884I	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R723I|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R884I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	884					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTACATCAAAGAACTCATTCA	0.408																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(2650-2652)aGa>aTa		zinc finger protein 268							100.0	101.0	101.0					12																	133780923		692	1591	2283	SO:0001583	missense	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133780923G>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2651G>T	12.37:g.133780923G>T	ENSP00000444412:p.Arg884Ile					ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R723I|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R884I|ZNF268_ENST00000541009.2_3'UTR	p.R884I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	2981	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	884					Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	c.2651G>T	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364244	0.61513	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565	T;T	0.02446	4.29;4.29	4.29	3.35	0.38373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	L	0.55743	1.74	0.34802	D	0.736787	D	0.55800	0.973	P	0.48598	0.583	T	0.37526	-0.9702	8	.	.	.	.	9.1398	0.36897	0.0:0.1565:0.6828:0.1607	.	884	Q14587	ZN268_HUMAN	I	884;884;723	ENSP00000228289:R884I;ENSP00000445713:R723I	.	R	+	2	0	ZNF268	.	0.001000	0.12720	0.998000	0.56505	0.975000	0.68041	0.913000	0.28611	2.217000	0.71921	0.591000	0.81541	AGA		0.408	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		11	44	1	0	9.70103e-10	1	1.02402e-09	11	44				
PLCL1	5334	broad.mit.edu	37	2	198950755	198950755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950755C>T	ENST00000428675.1	+	2	2912	c.2514C>T	c.(2512-2514)caC>caT	p.H838H	PLCL1_ENST00000437704.2_Silent_p.H740H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	838					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.H740H(2)|p.H838H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCATGGAGCACGTAACCCTTT	0.458																																						ENST00000428675.1																			3	Substitution - coding silent(3)	p.H740H(2)|p.H838H(1)	endometrium(2)|large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2512-2514)caC>caT		phospholipase C-like 1	Quinacrine(DB01103)						175.0	147.0	156.0					2																	198950755		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950755C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2514C>T	2.37:g.198950755C>T						PLCL1_ENST00000437704.2_Silent_p.H740H	p.H838H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2912	+			838					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2514C>T	CCDS2326.2																																																																																				0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		99	260	0	0	0	1	0	99	260				
MAP1B	4131	broad.mit.edu	37	5	71492907	71492907	+	Missense_Mutation	SNP	G	G	A	rs370336362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71492907G>A	ENST00000296755.7	+	5	4023	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1242					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATCAAAGATAGCATCTCAGCT	0.502																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3724-3726)aGc>aAc		microtubule-associated protein 1B							90.0	84.0	86.0					5																	71492907		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492907G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3725G>A	5.37:g.71492907G>A	ENSP00000296755:p.Ser1242Asn						p.S1242N	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4023	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1242					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3725G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	6.591	0.477422	0.12521	.	.	ENSG00000131711	ENST00000296755	T	0.03212	4.01	5.42	2.52	0.30459	.	0.507002	0.19548	N	0.111629	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.004	T	0.46925	-0.9156	10	0.27785	T	0.31	-2.3124	5.2439	0.15487	0.215:0.4979:0.2178:0.0693	.	1116;1242	A2BDK6;P46821	.;MAP1B_HUMAN	N	1242	ENSP00000296755:S1242N	ENSP00000296755:S1242N	S	+	2	0	MAP1B	71528663	0.000000	0.05858	0.002000	0.10522	0.073000	0.16967	-0.428000	0.06991	0.680000	0.31366	-0.120000	0.15030	AGC		0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		49	299	0	0	0	1	0	49	299				
SCD	6319	broad.mit.edu	37	10	102114262	102114262	+	Nonsense_Mutation	SNP	C	C	T	rs200497654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102114262C>T	ENST00000370355.2	+	4	901	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	174					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCATAATTCCCGACGTGGCTT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20668	0.001		0.0	False		,,,				2504	0.0				Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(520-522)Cga>Tga		stearoyl-CoA desaturase (delta-9-desaturase)							110.0	105.0	107.0					10																	102114262		2203	4300	6503	SO:0001587	stop_gained	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102114262C>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.520C>T	10.37:g.102114262C>T	ENSP00000359380:p.Arg174*						p.R174*	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	4	901	+		Colorectal(252;0.0323)	174					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Nonsense_Mutation	SNP	ENST00000370355.2	37	c.520C>T	CCDS7493.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	39	7.367420	0.98238	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	.	.	.	5.39	3.46	0.39613	.	0.267034	0.25236	N	0.032132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-13.626	9.3816	0.38318	0.4808:0.4005:0.1187:0.0	.	.	.	.	X	174	.	ENSP00000359380:R174X	R	+	1	2	SCD	102104252	0.037000	0.19845	0.995000	0.50966	0.869000	0.49853	0.575000	0.23729	0.590000	0.29694	0.563000	0.77884	CGA		0.507	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		87	518	0	0	0	1	0	87	518				
LY6G6F	259215	broad.mit.edu	37	6	31675894	31675894	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31675894T>A	ENST00000375832.4	+	3	651	c.629T>A	c.(628-630)gTc>gAc	p.V210D	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.V210D|MEGT1_ENST00000503322.1_Missense_Mutation_p.V210D	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						AACAAAGGGGTCAGCTTTAGC	0.567																																						ENST00000503322.1																			0											c.(628-630)gTc>gAc									106.0	119.0	114.0					6																	31675894		1509	2708	4217	SO:0001583	missense	0							g.chr6:31675894T>A		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.629T>A	6.37:g.31675894T>A	ENSP00000364992:p.Val210Asp					LY6G6F_ENST00000556581.1_Missense_Mutation_p.V210D|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.V210D	p.V210D							3	632	+								B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.629T>A	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589956	0.46214	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.22539	2.23;1.95;2.23	5.21	5.21	0.72293	.	0.662303	0.13873	N	0.356877	T	0.18964	0.0455	L	0.51422	1.61	0.45914	D	0.998755	D;P	0.55385	0.971;0.94	P;P	0.50440	0.641;0.564	T	0.01757	-1.1280	10	0.87932	D	0	-7.2332	11.4678	0.50249	0.0:0.0:0.0:1.0	.	210;210	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	D	210	ENSP00000452432:V210D;ENSP00000364992:V210D;ENSP00000421232:V210D	ENSP00000364992:V210D	V	+	2	0	XXbac-BPG32J3.19;LY6G6F	31783873	0.993000	0.37304	0.998000	0.56505	0.997000	0.91878	3.459000	0.53021	1.978000	0.57642	0.482000	0.46254	GTC		0.567	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		41	569	0	0	0	1	0	41	569				
CACNG4	27092	broad.mit.edu	37	17	65026808	65026808	+	Silent	SNP	G	G	A	rs377684890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A224A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542																																						ENST00000262138.3																			1	Substitution - coding silent(1)	p.A224A(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(670-672)gcG>gcA		calcium channel, voltage-dependent, gamma subunit 4		G		0,4406		0,0,2203	81.0	84.0	83.0		672	-9.7	0.2	17		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG4	NM_014405.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		224/328	65026808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026808G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.672G>A	17.37:g.65026808G>A							p.A224A	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	674	+	all_cancers(12;9.86e-11)		224					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.672G>A	CCDS11667.1																																																																																				0.542	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		104	563	0	0	0	1	0	104	563				
WDR88	126248	broad.mit.edu	37	19	33647385	33647385	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33647385G>T	ENST00000355868.3	+	7	1010	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	WDR88_ENST00000361680.2_Missense_Mutation_p.A312S	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	312										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AAACTGTGGAGCCTGTGTGAC	0.473																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(934-936)Gcc>Tcc		WD repeat domain 88							108.0	103.0	105.0					19																	33647385		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33647385G>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.934G>T	19.37:g.33647385G>T	ENSP00000348129:p.Ala312Ser					WDR88_ENST00000355868.3_Missense_Mutation_p.A312S	p.A312S			Q6ZMY6	WDR88_HUMAN			7	1012	+	Esophageal squamous(110;0.137)		312					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.934G>T	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020014	0.35606	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.38887	1.11;1.11	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.147620	0.06325	N	0.705236	T	0.52629	0.1746	L	0.38649	1.16	0.24566	N	0.99394	D	0.61080	0.989	P	0.60173	0.87	T	0.42999	-0.9418	10	0.20046	T	0.44	.	13.2963	0.60298	0.0:0.2597:0.7403:0.0	.	312	Q6ZMY6	WDR88_HUMAN	S	312	ENSP00000348129:A312S;ENSP00000355148:A312S	ENSP00000348129:A312S	A	+	1	0	WDR88	38339225	1.000000	0.71417	0.980000	0.43619	0.111000	0.19643	3.803000	0.55560	2.639000	0.89480	0.555000	0.69702	GCC		0.473	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		45	434	1	0	4.10826e-27	1	4.75084e-27	45	434				
WDR54	84058	broad.mit.edu	37	2	74654384	74654384	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74654384G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Silent_p.C374C|RTKN_ENST00000305557.5_Silent_p.C411C|RTKN_ENST00000272430.5_Silent_p.C424C	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TTTCATCACAGCACTGCTTCC	0.498																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1231-1233)tgC>tgT		rhotekin							102.0	102.0	102.0					2																	74654384		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74654384G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654384G>A						RTKN_ENST00000233330.6_Silent_p.C374C|RTKN_ENST00000272430.5_Silent_p.C424C	p.C411C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			12	1818	-			424			PH.		D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.1233C>T	CCDS1940.1																																																																																				0.498	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		77	386	0	0	0	1	0	77	386				
KIFC3	3801	broad.mit.edu	37	16	57803523	57803523	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57803523C>A	ENST00000379655.4	-	9	1459	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M|KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	401					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTTGACACTCCTGAGGGCCTC	0.657																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1201-1203)aGg>aTg		kinesin family member C3							37.0	39.0	39.0					16																	57803523		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57803523C>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1202G>T	16.37:g.57803523C>A	ENSP00000368976:p.Arg401Met					KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M|KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M	p.R401M	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			9	1459	-		all_neural(199;0.224)	401					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1202G>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006246	0.35415	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.75477	-0.86;-0.86;-0.86;-0.87;-0.85;-0.94;-0.87	5.86	-3.14	0.05250	.	0.730840	0.14053	N	0.344569	T	0.67401	0.2889	L	0.39898	1.24	0.09310	N	1	P;P;B;B;B;P;B	0.39181	0.533;0.663;0.24;0.238;0.153;0.533;0.102	B;B;B;B;B;B;B	0.43251	0.155;0.413;0.155;0.357;0.111;0.155;0.078	T	0.63708	-0.6576	10	0.54805	T	0.06	.	13.8935	0.63755	0.0:0.5905:0.0:0.4095	.	423;343;262;299;106;401;262	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	M	401;401;262;423;299;262;343	ENSP00000368976:R401M;ENSP00000401696:R401M;ENSP00000396399:R262M;ENSP00000442008:R423M;ENSP00000438805:R299M;ENSP00000444012:R262M;ENSP00000444884:R343M	ENSP00000368976:R401M	R	-	2	0	KIFC3	56361024	0.001000	0.12720	0.014000	0.15608	0.233000	0.25261	-0.416000	0.07097	-0.452000	0.07087	0.655000	0.94253	AGG		0.657	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		52	238	1	0	1.00798e-23	1	1.14783e-23	52	238				
WDFY3	23001	broad.mit.edu	37	4	85715716	85715716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85715716C>T	ENST00000295888.4	-	21	3850	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1148Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1148					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCAGAGATCGGTCTTTTGC	0.368																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3442-3444)cGa>cAa		WD repeat and FYVE domain containing 3							147.0	150.0	149.0					4																	85715716		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85715716C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3443G>A	4.37:g.85715716C>T	ENSP00000295888:p.Arg1148Gln					WDFY3_ENST00000295888.4_Missense_Mutation_p.R1148Q	p.R1148Q			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	21	3850	-		Hepatocellular(203;0.114)	1148					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3443G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152751	0.78001	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.47177	0.85;0.85	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.059441	0.64402	D	0.000002	T	0.38612	0.1047	L	0.53249	1.67	0.80722	D	1	P	0.46395	0.877	B	0.34138	0.176	T	0.39502	-0.9611	10	0.45353	T	0.12	.	12.3958	0.55384	0.0:0.9226:0.0:0.0774	.	1148	Q8IZQ1	WDFY3_HUMAN	Q	1148	ENSP00000318466:R1148Q;ENSP00000295888:R1148Q	ENSP00000295888:R1148Q	R	-	2	0	WDFY3	85934740	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	5.538000	0.67193	2.563000	0.86464	0.650000	0.86243	CGA		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		99	698	0	0	0	1	0	99	698				
ABHD11	83451	broad.mit.edu	37	7	73151260	73151260	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73151260G>T	ENST00000222800.3	-	5	883	c.814C>A	c.(814-816)Cat>Aat	p.H272N	ABHD11_ENST00000437775.2_Splice_Site_p.H265N|ABHD11_ENST00000395147.4_Splice_Site_p.H215N|ABHD11_ENST00000468998.1_5'Flank|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000458339.1_Intron	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	272						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTAGCTTACTGCACGAACTGG	0.612																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.e5+1		abhydrolase domain containing 11							121.0	120.0	121.0					7																	73151260		2203	4300	6503	SO:0001630	splice_region_variant	83451						hydrolase activity	g.chr7:73151260G>T	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.815+1C>A	7.37:g.73151260G>T						ABHD11_ENST00000395147.4_Splice_Site_p.H215_splice|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000437775.2_Splice_Site_p.H265_splice	p.H272_splice	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			5	883	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	272					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Splice_Site	SNP	ENST00000222800.3	37	c.815_splice	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	G	6.964	0.547811	0.13312	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.66995	-0.24;-0.24;-0.24	4.38	2.47	0.30058	Alpha/beta hydrolase fold-1 (1);	0.522037	0.21087	N	0.080383	T	0.34658	0.0905	N	0.02802	-0.49	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.002	T	0.16719	-1.0393	10	0.17832	T	0.49	1.1316	6.0827	0.19950	0.1074:0.1897:0.7029:0.0	.	265;272	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	N	265;272;215	ENSP00000416970:H265N;ENSP00000222800:H272N;ENSP00000378579:H215N	ENSP00000222800:H272N	H	-	1	0	ABHD11	72789196	0.161000	0.22892	0.479000	0.27329	0.245000	0.25701	2.379000	0.44318	0.823000	0.34589	0.561000	0.74099	CAT		0.612	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1		Missense_Mutation	140	580	1	0	3.6619e-90	1	4.70048e-90	140	580				
SLU7	10569	broad.mit.edu	37	5	159834607	159834607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159834607G>A	ENST00000297151.4	-	11	1388	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	334					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGTCATAGGCTTCCCATGC	0.388																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(1000-1002)gCc>gTc		SLU7 splicing factor homolog (S. cerevisiae)							125.0	117.0	119.0					5																	159834607		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159834607G>A	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1001C>T	5.37:g.159834607G>A	ENSP00000297151:p.Ala334Val						p.A334V	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1388	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	334					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.1001C>T	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646700	0.87958	.	.	ENSG00000164609	ENST00000297151	T	0.49432	0.78	6.17	3.44	0.39384	Pre-mRNA splicing Prp18-interacting factor (1);	0.329212	0.35739	N	0.003007	T	0.67059	0.2853	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67825	-0.5570	10	0.87932	D	0	-29.9888	9.9057	0.41375	0.1249:0.1156:0.7594:0.0	.	334	O95391	SLU7_HUMAN	V	334	ENSP00000297151:A334V	ENSP00000297151:A334V	A	-	2	0	SLU7	159767185	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.378000	0.97191	0.480000	0.27534	0.655000	0.94253	GCC		0.388	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		25	148	0	0	0	1	0	25	148				
CTNNA3	29119	broad.mit.edu	37	10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTTTCTTTGCGAACTTCCTC	0.423																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(283-285)cGc>cAc		catenin (cadherin-associated protein), alpha 3							113.0	115.0	114.0					10																	69366623		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69366623C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.284G>A	10.37:g.69366623C>T	ENSP00000389714:p.Arg95His					CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H	p.R95H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			3	458	-			95						Missense_Mutation	SNP	ENST00000433211.2	37	c.284G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735826	0.69189	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.66	4.75	0.60458	.	0.381500	0.20044	N	0.100458	T	0.59742	0.2216	L	0.58510	1.815	0.42656	D	0.993463	D;P;P	0.61697	0.99;0.464;0.952	P;B;P	0.58077	0.832;0.22;0.603	T	0.63075	-0.6718	10	0.87932	D	0	-2.4162	13.8737	0.63638	0.0:0.9241:0.0:0.0759	.	95;95;95	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	H	95	ENSP00000389714:R95H;ENSP00000362849:R95H;ENSP00000441444:R95H;ENSP00000330570:R95H	ENSP00000330570:R95H	R	-	2	0	CTNNA3	69036629	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	1.816000	0.38992	2.671000	0.90904	0.555000	0.69702	CGC		0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		68	370	0	0	0	1	0	68	370				
GRB7	2886	broad.mit.edu	37	17	37899218	37899218	+	Missense_Mutation	SNP	G	G	A	rs200112951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899218G>A	ENST00000309156.4	+	4	631	c.374G>A	c.(373-375)cGc>cAc	p.R125H	GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394204.1_Missense_Mutation_p.R125H|GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	125	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCACAGCTCGCCACGTGTGT	0.622																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(373-375)cGc>cAc		growth factor receptor-bound protein 7							70.0	66.0	67.0					17																	37899218		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37899218G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.374G>A	17.37:g.37899218G>A	ENSP00000310771:p.Arg125His					GRB7_ENST00000578702.1_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000394204.1_Missense_Mutation_p.R125H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H|GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H	p.R125H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	631	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		125			Ras-associating.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.374G>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813108	0.50527	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	4.77	4.77	0.60923	Ras-association (3);	0.168736	0.51477	D	0.000089	T	0.23171	0.0560	L	0.60845	1.875	0.80722	D	1	B;P	0.36535	0.021;0.557	B;B	0.31337	0.004;0.128	T	0.07102	-1.0790	10	0.59425	D	0.04	-20.5719	17.0724	0.86578	0.0:0.0:1.0:0.0	.	125;125	Q14451-2;Q14451	.;GRB7_HUMAN	H	125;125;125;125;148;125	ENSP00000311752:R125H;ENSP00000310771:R125H;ENSP00000377761:R125H;ENSP00000377759:R125H;ENSP00000403459:R148H;ENSP00000377754:R125H	ENSP00000310771:R125H	R	+	2	0	GRB7	35152744	0.998000	0.40836	0.969000	0.41365	0.046000	0.14306	5.327000	0.65881	2.653000	0.90120	0.561000	0.74099	CGC		0.622	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		15	371	0	0	0	1	0	15	371				
ATMIN	23300	broad.mit.edu	37	16	81078026	81078026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81078026C>A	ENST00000299575.4	+	4	1947	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L|ATMIN_ENST00000566488.1_Missense_Mutation_p.F485L|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	641					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCGAAGAGTTCTTTTCGGCCT	0.493																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1453-1455)ttC>ttA		ATM interactor							46.0	49.0	48.0					16																	81078026		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078026C>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1923C>A	16.37:g.81078026C>A	ENSP00000299575:p.Phe641Leu					ATMIN_ENST00000299575.4_Missense_Mutation_p.F641L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L	p.F485L			O43313	ATMIN_HUMAN			3	2418	+			641					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1455C>A	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508707	0.44660	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.39229	1.09	6.17	1.43	0.22495	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.37630	1.12	0.49051	D	0.999743	D	0.76494	0.999	D	0.80764	0.994	T	0.47873	-0.9083	10	0.87932	D	0	-26.8835	10.0453	0.42184	0.0:0.6098:0.0:0.3902	.	641	O43313	ATMIN_HUMAN	L	641;412	ENSP00000299575:F641L	ENSP00000299575:F641L	F	+	3	2	ATMIN	79635527	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.136000	0.31467	0.430000	0.26230	0.655000	0.94253	TTC		0.493	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		65	328	1	0	3.40165e-17	1	3.75177e-17	65	328				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	124	0	0	0	1	0	8	124				
GAS7	8522	broad.mit.edu	37	17	9821334	9821334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9821334T>C	ENST00000432992.2	-	13	1461	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G	GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000579158.1_Missense_Mutation_p.D370G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000585266.1_Missense_Mutation_p.D374G|GAS7_ENST00000542249.1_Missense_Mutation_p.D370G|GAS7_ENST00000323816.4_Missense_Mutation_p.D374G|GAS7_ENST00000396115.2_Missense_Mutation_p.D139G	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	434					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTTGAACATGTCTGTTTCATG	0.637			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(1120-1122)gAc>gGc		growth arrest-specific 7							76.0	62.0	67.0					17																	9821334		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9821334T>C	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1301A>G	17.37:g.9821334T>C	ENSP00000407552:p.Asp434Gly					GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000585266.1_Missense_Mutation_p.D370G|GAS7_ENST00000579158.1_Missense_Mutation_p.D386G|GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000323816.4_Missense_Mutation_p.D370G|GAS7_ENST00000432992.2_Missense_Mutation_p.D434G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.D379G	p.D374G	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			13	1431	-			434					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.1121A>G	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.920482	0.92249	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.40476	1.03;1.03	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.974;0.996	P;P;P;P	0.60541	0.761;0.876;0.669;0.876	T	0.36792	-0.9733	9	.	.	.	1.0203	14.3718	0.66846	0.0:0.0:0.0:1.0	.	386;374;294;434	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	G	434;374;373;294;139;374;83;248	ENSP00000379421:D374G;ENSP00000446214:D139G	.	D	-	2	0	GAS7	9762059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.868000	0.87116	2.235000	0.73313	0.533000	0.62120	GAC		0.637	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		43	186	0	0	0	1	0	43	186				
CFAP70	118491	broad.mit.edu	37	10	75107993	75107993	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75107993C>A	ENST00000310715.3	-	5	470	c.350G>T	c.(349-351)gGa>gTa	p.G117V	TTC18_ENST00000394865.1_Splice_Site_p.G117V|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000401621.2_Splice_Site_p.G117V|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Splice_Site_p.G117V|Y_RNA_ENST00000384742.1_RNA	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		117						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAACTCTGTCCTGCAAAAAG	0.443																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e5-1		tetratricopeptide repeat domain 18							89.0	83.0	85.0					10																	75107993		2203	4300	6503	SO:0001630	splice_region_variant	118491						binding	g.chr10:75107993C>A																												ENST00000310715.3:c.350-1G>T	10.37:g.75107993C>A						TTC18_ENST00000340329.3_Splice_Site_p.G117_splice|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Splice_Site_p.G117_splice|TTC18_ENST00000310715.3_Splice_Site_p.G117_splice	p.G117_splice			Q5T0N1	TTC18_HUMAN			5	470	-	Prostate(51;0.0119)		117	G -> V (in Ref. 1; CAH10391).				C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Splice_Site	SNP	ENST00000310715.3	37	c.349_splice	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130417	0.77549	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65483	-0.6157	10	0.87932	D	0	.	16.521	0.84317	0.0:1.0:0.0:0.0	.	117	Q5T0N1	TTC18_HUMAN	V	117	ENSP00000310829:G117V;ENSP00000384479:G117V;ENSP00000343650:G117V;ENSP00000378334:G117V	ENSP00000310829:G117V	G	-	2	0	TTC18	74777999	1.000000	0.71417	0.908000	0.35775	0.956000	0.61745	4.991000	0.63883	2.479000	0.83701	0.557000	0.71058	GGA		0.443	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation	57	255	1	0	5.66675e-16	1	6.21002e-16	57	255				
ATG2A	23130	broad.mit.edu	37	11	64669563	64669563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64669563G>A	ENST00000377264.3	-	29	4102	c.3990C>T	c.(3988-3990)gtC>gtT	p.V1330V	ATG2A_ENST00000421419.2_Silent_p.V1332V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1330					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGGGCCCCCGACAGGTGGTG	0.612																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(3994-3996)gtC>gtT		autophagy related 2A							87.0	92.0	90.0					11																	64669563		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64669563G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3990C>T	11.37:g.64669563G>A						ATG2A_ENST00000377264.3_Silent_p.V1330V	p.V1332V			Q2TAZ0	ATG2A_HUMAN			29	4110	-			1330					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.3996C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455658	0.01071	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.39	-3.62	0.04543	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32613	-0.9900	4	.	.	.	.	6.4286	0.21784	0.4439:0.1355:0.4205:0.0	.	.	.	.	W	1134	.	.	R	-	1	2	ATG2A	64426139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.304000	0.08199	-0.686000	0.05170	0.563000	0.77884	CGG		0.612	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		106	504	0	0	0	1	0	106	504				
RUNDC1	146923	broad.mit.edu	37	17	41141438	41141438	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41141438T>C	ENST00000361677.1	+	3	750	c.738T>C	c.(736-738)cgT>cgC	p.R246R		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	246										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AAGAGCTTCGTCAGCGTGTAG	0.458																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(736-738)cgT>cgC		RUN domain containing 1							109.0	93.0	99.0					17																	41141438		2203	4300	6503	SO:0001819	synonymous_variant	146923							g.chr17:41141438T>C	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.738T>C	17.37:g.41141438T>C							p.R246R	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	750	+		Breast(137;0.00499)	246					Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	ENST00000361677.1	37	c.738T>C	CCDS11448.1																																																																																				0.458	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		7	288	0	0	0	1	0	7	288				
COL7A1	1294	broad.mit.edu	37	3	48621343	48621343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621343G>A	ENST00000328333.8	-	38	4375	c.4268C>T	c.(4267-4269)cCt>cTt	p.P1423L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1423	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCAGCCCAGGCTCCCCAGG	0.642																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4267-4269)cCt>cTt		collagen, type VII, alpha 1							39.0	51.0	47.0					3																	48621343		2203	4299	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621343G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4268C>T	3.37:g.48621343G>A	ENSP00000332371:p.Pro1423Leu					COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	p.P1423L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	38	4375	-			1423			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4268C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182693	0.38511	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.89270	-2.47;-2.49	5.2	5.2	0.72013	.	0.000000	0.46758	D	0.000273	D	0.94574	0.8252	M	0.86502	2.82	0.30089	N	0.808516	D	0.89917	1.0	D	0.66716	0.946	D	0.91979	0.5593	10	0.52906	T	0.07	.	15.6004	0.76620	0.0:0.0:1.0:0.0	.	1423	Q02388	CO7A1_HUMAN	L	1423	ENSP00000332371:P1423L;ENSP00000412569:P1423L	ENSP00000332371:P1423L	P	-	2	0	COL7A1	48596347	0.995000	0.38212	0.167000	0.22817	0.408000	0.30992	4.173000	0.58249	2.711000	0.92665	0.655000	0.94253	CCT		0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		48	182	0	0	0	1	0	48	182				
LOC645752	645752	broad.mit.edu	37	15	78208882	78208882	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78208882C>T	ENST00000565869.1	+	0	19				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TGGCGTGGGCCGAGGCGCCTC	0.632																																						ENST00000565869.1																			0																																																			0							g.chr15:78208882C>T																													15.37:g.78208882C>T														0	19	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.632	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			35	468	0	0	0	1	0	35	468				
NCOA2	10499	broad.mit.edu	37	8	71039253	71039253	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71039253C>T	ENST00000452400.2	-	19	3892	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	NCOA2_ENST00000267974.4_Silent_p.Q325Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1237					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCCTCTGTCTCTGGGCCAGCA	0.453			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3709-3711)caG>caA		nuclear receptor coactivator 2							101.0	88.0	92.0					8																	71039253		1930	4141	6071	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71039253C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3711G>A	8.37:g.71039253C>T						NCOA2_ENST00000267974.4_Silent_p.Q325Q	p.Q1237Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		19	3892	-	Breast(64;0.201)		1237					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.3711G>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.836999	0.16891	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.97	1.57	0.23409	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56998	-0.7886	4	.	.	.	.	11.6264	0.51147	0.0:0.7114:0.0:0.2886	.	.	.	.	K	338	.	.	R	-	2	0	NCOA2	71201807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.108000	0.31123	0.389000	0.25086	0.655000	0.94253	AGA		0.453	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			9	69	0	0	0	1	0	9	69				
ELAC2	60528	broad.mit.edu	37	17	12909125	12909125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12909125G>T	ENST00000338034.4	-	10	1054	c.815C>A	c.(814-816)gCt>gAt	p.A272D	ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	272					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AATGATGGGAGCGATGGCAGC	0.502																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(814-816)gCt>gAt		elaC ribonuclease Z 2							135.0	127.0	130.0					17																	12909125		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12909125G>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.815C>A	17.37:g.12909125G>T	ENSP00000337445:p.Ala272Asp					ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D	p.A272D	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			10	1054	-			272					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.815C>A	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125188	0.20959	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.64618	0.33;-0.1;-0.11	4.85	3.86	0.44501	.	0.436165	0.26463	N	0.024232	T	0.70596	0.3242	M	0.68317	2.08	0.09310	N	0.999999	D;P;D;P;D;P	0.63880	0.987;0.954;0.993;0.839;0.987;0.907	P;P;P;B;P;P	0.56916	0.649;0.467;0.809;0.347;0.649;0.475	T	0.63690	-0.6580	10	0.66056	D	0.02	-19.3785	11.1433	0.48415	0.0:0.1865:0.8135:0.0	.	232;255;253;95;272;32	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.;.;.;.;RNZ2_HUMAN;.	D	232;272;253	ENSP00000405223:A232D;ENSP00000337445:A272D;ENSP00000379291:A253D	ENSP00000337445:A272D	A	-	2	0	ELAC2	12849850	0.815000	0.29118	0.015000	0.15790	0.760000	0.43138	2.003000	0.40844	1.356000	0.45884	0.563000	0.77884	GCT		0.502	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			89	356	1	0	7.83748e-43	1	9.55338e-43	89	356				
LOC81691	81691	broad.mit.edu	37	16	20851745	20851745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20851745C>A	ENST00000261377.6	+	15	1790	c.1581C>A	c.(1579-1581)agC>agA	p.S527R	AC004381.6_ENST00000564274.1_Missense_Mutation_p.S527R|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.S527R	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGTTTAAAAGCTTTGGCCCAG	0.418																																						ENST00000261377.6																			0											c.(1579-1581)agC>agA									115.0	117.0	116.0					16																	20851745		2201	4300	6501	SO:0001583	missense	0							g.chr16:20851745C>A																												ENST00000261377.6:c.1581C>A	16.37:g.20851745C>A	ENSP00000261377:p.Ser527Arg					AC004381.6_ENST00000348433.6_Missense_Mutation_p.S527R|AC004381.6_ENST00000564274.1_Missense_Mutation_p.S527R|ERI2_ENST00000564349.1_Intron	p.S527R	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					15	1790	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.1581C>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310552	0.40895	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.31769	1.48;2.36	5.3	4.34	0.51931	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.205916	0.44285	D	0.000473	T	0.30262	0.0759	M	0.68952	2.095	0.29895	N	0.8249	P;P	0.36412	0.552;0.479	B;B	0.39771	0.157;0.309	T	0.18241	-1.0343	10	0.19590	T	0.45	-12.2883	6.6738	0.23083	0.0:0.7193:0.1806:0.1001	.	527;527	Q96IC2-2;Q96IC2	.;REXON_HUMAN	R	527	ENSP00000261378:S527R;ENSP00000261377:S527R	ENSP00000261377:S527R	S	+	3	2	AC004381.6	20759246	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	0.747000	0.26290	1.182000	0.42928	0.561000	0.74099	AGC		0.418	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			121	431	1	0	6.10253e-70	1	7.74761e-70	121	431				
KRT2	3849	broad.mit.edu	37	12	53045633	53045633	+	Silent	SNP	G	G	T	rs182369139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045633G>T	ENST00000309680.3	-	1	315	c.294C>A	c.(292-294)ggC>ggA	p.G98G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	98	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		agctgctgccgcctccaaaac	0.627																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(292-294)ggC>ggA		keratin 2							51.0	33.0	39.0					12																	53045633		2198	4298	6496	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045633G>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.294C>A	12.37:g.53045633G>T							p.G98G	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	315	-			98			Head.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.294C>A	CCDS8835.1																																																																																				0.627	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		14	98	1	0	3.27435e-08	1	3.41456e-08	14	98				
GLIS3	169792	broad.mit.edu	37	9	4118509	4118509	+	Silent	SNP	C	C	T	rs201431173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4118509C>T	ENST00000324333.10	-	3	697	c.504G>A	c.(502-504)tcG>tcA	p.S168S	GLIS3_ENST00000381971.3_Silent_p.S323S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	168					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGACGTGGGCGACGTGCGGA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		16377	0.001		0.0	False		,,,				2504	0.0					ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(502-504)tcG>tcA		GLIS family zinc finger 3							72.0	62.0	65.0					9																	4118509		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118509C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.504G>A	9.37:g.4118509C>T						GLIS3_ENST00000381971.3_Silent_p.S323S	p.S168S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	697	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	168					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.504G>A	CCDS6451.1																																																																																				0.647	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		29	399	0	0	0	1	0	29	399				
CCDC141	285025	broad.mit.edu	37	2	179736940	179736940	+	Missense_Mutation	SNP	G	G	A	rs146458136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179736940G>A	ENST00000420890.2	-	13	2116	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	667										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATGCCAGCCGAAGGAGGCTA	0.468																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(1999-2001)Cgg>Tgg		coiled-coil domain containing 141		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	145.0	122.0	130.0		1999	2.3	0.3	2	dbSNP_134	130	0,8600		0,0,4300	no	missense	CCDC141	NM_173648.3	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	667/1531	179736940	3,13003	2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179736940G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.1999C>T	2.37:g.179736940G>A	ENSP00000395995:p.Arg667Trp					CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	p.R667W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	2116	-			92					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1999C>T		.	.	.	.	.	.	.	.	.	.	G	13.21	2.170634	0.38315	6.81E-4	0.0	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.44482	0.92;1.53;1.53;1.53	5.51	2.32	0.28847	.	0.306192	0.23682	N	0.045611	T	0.21267	0.0512	N	0.14661	0.345	0.26784	N	0.969549	B	0.20459	0.045	B	0.15052	0.012	T	0.10590	-1.0623	10	0.33141	T	0.24	-3.0752	5.5109	0.16880	0.3894:0.0:0.6106:0.0	.	92	Q6ZP82	CC141_HUMAN	W	667;111;92;667;602	ENSP00000395995:R667W;ENSP00000344627:R111W;ENSP00000295723:R92W;ENSP00000390190:R667W	ENSP00000295723:R92W	R	-	1	2	CCDC141	179445185	0.574000	0.26684	0.278000	0.24718	0.823000	0.46562	0.882000	0.28186	0.684000	0.31448	-0.259000	0.10710	CGG		0.468	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		71	365	0	0	0	1	0	71	365				
BBS1	582	broad.mit.edu	37	11	66294149	66294149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66294149C>T	ENST00000318312.7	+	13	1261	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	BBS1_ENST00000393994.2_Missense_Mutation_p.R275C|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.R307C|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R441C|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	404					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GATCCTGAAGCGTACAGCAGT	0.537									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1321-1323)Cgt>Tgt									172.0	161.0	165.0					11																	66294149		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66294149C>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1210C>T	11.37:g.66294149C>T	ENSP00000317469:p.Arg404Cys					BBS1_ENST00000393994.2_Missense_Mutation_p.R275C|BBS1_ENST00000455748.2_Missense_Mutation_p.R307C|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.R404C	p.R441C							13	1399	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1321C>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138372	0.77775	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.98996	-5.27;-5.31;-5.12;-5.2	4.69	3.69	0.42338	.	.	.	.	.	D	0.99199	0.9722	M	0.88906	2.99	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;0.999;0.999;1.0;1.0;1.0	D	0.98674	1.0689	9	0.87932	D	0	.	9.5267	0.39169	0.3191:0.6809:0.0:0.0	.	79;307;275;292;404;441	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	C	441;404;307;275	ENSP00000398526:R441C;ENSP00000317469:R404C;ENSP00000405764:R307C;ENSP00000377563:R275C	ENSP00000317469:R404C	R	+	1	0	BBS1;CTD-3074O7.11	66050725	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.304000	0.43655	2.548000	0.85928	0.655000	0.94253	CGT		0.537	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			45	499	0	0	0	1	0	45	499				
CCM2L	140706	broad.mit.edu	37	20	30602783	30602783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30602783G>A	ENST00000300415.8	+	2	120	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CCM2L_ENST00000262659.8_Missense_Mutation_p.R36H			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	36																	AGCGTGAGCCGCCGGCCCCTG	0.632																																						ENST00000300415.8																			0											c.(106-108)cGc>cAc		cerebral cavernous malformation 2-like							73.0	73.0	73.0					20																	30602783		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30602783G>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.107G>A	20.37:g.30602783G>A	ENSP00000300415:p.Arg36His					CCM2L_ENST00000262659.8_Missense_Mutation_p.R36H	p.R36H							2	120	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.107G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.307386	0.95629	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81328	-0.0982	10	0.87932	D	0	-39.7528	16.7122	0.85388	0.0:0.0:1.0:0.0	.	36	Q9NUG4-2	.	H	36	ENSP00000300415:R36H;ENSP00000262659:R36H	ENSP00000262659:R36H	R	+	2	0	C20orf160	30066444	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.977000	0.93446	2.418000	0.82041	0.655000	0.94253	CGC		0.632	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		15	855	0	0	0	1	0	15	855				
CHRD	8646	broad.mit.edu	37	3	184104362	184104362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184104362C>T	ENST00000204604.1	+	16	2261	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|CHRD_ENST00000450923.1_Missense_Mutation_p.P672L|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	672					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGGGGCTCCGGATACAGCC	0.716																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2014-2016)cCg>cTg		chordin							4.0	5.0	5.0					3																	184104362		1892	3854	5746	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104362C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2015C>T	3.37:g.184104362C>T	ENSP00000204604:p.Pro672Leu					CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|CHRD_ENST00000450923.1_Missense_Mutation_p.P672L|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron	p.P672L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2261	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		672					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2015C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823859	0.32237	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14640	2.73;2.5;2.49	4.58	-5.2	0.02823	.	1.971630	0.02221	N	0.064057	T	0.07908	0.0198	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.15719	0.014;0.0;0.005	B;B;B	0.11329	0.006;0.0;0.003	T	0.25398	-1.0133	10	0.23891	T	0.37	-0.2546	2.0571	0.03583	0.1457:0.3244:0.106:0.424	.	632;672;672	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	L	672;672;632;385	ENSP00000204604:P672L;ENSP00000408972:P672L;ENSP00000334036:P632L	ENSP00000204604:P672L	P	+	2	0	CHRD	185587056	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.745000	0.04834	-0.742000	0.04790	-0.232000	0.12228	CCG		0.716	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		17	73	0	0	0	1	0	17	73				
ADORA3	140	broad.mit.edu	37	1	112045922	112045922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112045922C>T	ENST00000241356.4	-	1	460	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	19					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATGAAAATTTCCATGGTGATG	0.532																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(55-57)Gaa>Aaa		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						67.0	56.0	59.0					1																	112045922		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112045922C>T	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.55G>A	1.37:g.112045922C>T	ENSP00000241356:p.Glu19Lys					ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K|ADORA3_ENST00000369717.4_Intron	p.E19K	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	460	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	19					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.55G>A	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149557	0.78001	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.37411	1.2;1.2	5.63	5.63	0.86233	.	0.000000	0.48767	D	0.000165	T	0.51126	0.1656	M	0.66439	2.03	0.80722	D	1	D;D	0.54601	0.967;0.958	P;D	0.74023	0.765;0.982	T	0.30149	-0.9988	10	0.28530	T	0.3	-22.6307	19.2654	0.93983	0.0:1.0:0.0:0.0	.	19;19	P33765;P33765-2	AA3R_HUMAN;.	K	19	ENSP00000358730:E19K;ENSP00000241356:E19K	ENSP00000241356:E19K	E	-	1	0	ADORA3	111847445	1.000000	0.71417	0.947000	0.38551	0.125000	0.20455	7.487000	0.81328	2.659000	0.90383	0.561000	0.74099	GAA		0.532	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		16	124	0	0	0	1	0	16	124				
NGFR	4804	broad.mit.edu	37	17	47590307	47590307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47590307G>A	ENST00000172229.3	+	6	1345	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	NGFR_ENST00000504201.1_Missense_Mutation_p.R313H|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	407	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCCTGCGCCGCATCCAGCGA	0.701																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(1219-1221)cGc>cAc		nerve growth factor receptor							15.0	15.0	15.0					17																	47590307		2189	4284	6473	SO:0001583	missense	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47590307G>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1220G>A	17.37:g.47590307G>A	ENSP00000172229:p.Arg407His					RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.R313H	p.R407H	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			6	1345	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		407			Death.		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.1220G>A	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683884	0.88639	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.85484	-1.99;-1.99	4.55	3.56	0.40772	Death (3);DEATH-like (2);	0.583643	0.16384	N	0.216771	D	0.83820	0.5337	L	0.33485	1.01	0.38279	D	0.942384	D	0.71674	0.998	P	0.61533	0.89	T	0.82532	-0.0410	10	0.42905	T	0.14	-40.3266	5.5062	0.16856	0.2816:0.0:0.7184:0.0	.	407	P08138	TNR16_HUMAN	H	407;313	ENSP00000172229:R407H;ENSP00000421731:R313H	ENSP00000172229:R407H	R	+	2	0	NGFR	44945306	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.814000	0.48010	2.233000	0.73108	0.561000	0.74099	CGC		0.701	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			26	147	0	0	0	1	0	26	147				
DNAH10	196385	broad.mit.edu	37	12	124359997	124359997	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124359997C>A	ENST00000409039.3	+	46	7829	c.7804C>A	c.(7804-7806)Ctg>Atg	p.L2602M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2602	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGGAGTCTCTGCATTTAAT	0.448																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(7804-7806)Ctg>Atg		dynein, axonemal, heavy chain 10							133.0	122.0	125.0					12																	124359997		1883	4113	5996	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124359997C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7804C>A	12.37:g.124359997C>A	ENSP00000386770:p.Leu2602Met						p.L2602M	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	46	7829	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2602			AAA 3 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.7804C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516031	0.64634	.	.	ENSG00000197653	ENST00000409039	T	0.52754	0.65	5.41	-5.07	0.02938	.	0.000000	0.56097	U	0.000029	T	0.63438	0.2511	M	0.71036	2.16	0.40633	D	0.981872	D	0.89917	1.0	D	0.87578	0.998	T	0.67325	-0.5699	10	0.29301	T	0.29	.	20.508	0.99210	0.0:0.8064:0.0:0.1936	.	2602	Q8IVF4	DYH10_HUMAN	M	2602	ENSP00000386770:L2602M	ENSP00000386770:L2602M	L	+	1	2	DNAH10	122925950	0.003000	0.15002	0.361000	0.25849	0.946000	0.59487	0.056000	0.14256	-1.066000	0.03164	-0.484000	0.04775	CTG		0.448	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			65	268	1	0	9.5628e-27	1	1.10398e-26	65	268				
DDR1	780	broad.mit.edu	37	6	30860251	30860251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860251G>A	ENST00000324771.8	+	10	1579	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000454612.2_Missense_Mutation_p.R344H|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000376567.2_Missense_Mutation_p.R344H			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	344	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGTGTGGCTCGCTTTCTGCAG	0.647																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1030-1032)cGc>cAc		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						41.0	48.0	46.0					6																	30860251		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30860251G>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1031G>A	6.37:g.30860251G>A	ENSP00000318217:p.Arg344His					DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000376567.2_Missense_Mutation_p.R344H|DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|DDR1_ENST00000454612.2_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H	p.R344H			Q08345	DDR1_HUMAN			10	1579	+			344					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.1031G>A	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557681	0.65425	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741;ENST00000451954	T;T;T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	4.23	4.23	0.50019	.	0.077813	0.53938	D	0.000046	T	0.34250	0.0891	M	0.72894	2.215	0.37933	D	0.93207	D;D;D;D	0.89917	0.993;1.0;0.996;0.988	P;D;P;P	0.78314	0.481;0.991;0.872;0.517	T	0.15752	-1.0426	9	.	.	.	.	14.1192	0.65175	0.0:0.0:1.0:0.0	.	362;140;344;344	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	H	344;344;344;344;344;344;344;344;362;344;344;140;75;27	ENSP00000318217:R344H;ENSP00000407699:R344H;ENSP00000406091:R344H;ENSP00000365753:R344H;ENSP00000365759:R344H;ENSP00000365754:R344H;ENSP00000365752:R344H;ENSP00000405039:R344H;ENSP00000422442:R362H;ENSP00000365751:R344H;ENSP00000427552:R344H;ENSP00000398682:R140H;ENSP00000354844:R75H	.	R	+	2	0	DDR1	30968230	0.976000	0.34144	0.987000	0.45799	0.592000	0.36648	3.524000	0.53495	1.905000	0.55150	0.462000	0.41574	CGC		0.647	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		82	372	0	0	0	1	0	82	372				
TRPV1	7442	broad.mit.edu	37	17	3493604	3493604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493604C>A	ENST00000571088.1	-	5	900	c.687G>T	c.(685-687)caG>caT	p.Q229H	TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000174621.6_Missense_Mutation_p.Q227H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H|TRPV1_ENST00000310522.5_Missense_Mutation_p.Q229H	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	229					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGGCCGCAGCCTGGACGTCTG	0.582																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(679-681)caG>caT		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						71.0	78.0	75.0					17																	3493604		2106	4229	6335	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493604C>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.687G>T	17.37:g.3493604C>A	ENSP00000461007:p.Gln229His					TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000310522.5_Missense_Mutation_p.Q229H|TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000571088.1_Missense_Mutation_p.Q229H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H	p.Q227H			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	4	970	-			229					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.681G>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	0.208	-1.038881	0.02013	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.12	4.04	0.47022	Ankyrin repeat-containing domain (4);	0.047547	0.85682	D	0.000000	T	0.29556	0.0737	N	0.02286	-0.61	0.34797	D	0.736369	B;B;B;B	0.12013	0.001;0.001;0.001;0.005	B;B;B;B	0.11329	0.002;0.004;0.003;0.006	T	0.38045	-0.9679	10	0.02654	T	1	-12.4387	10.4822	0.44700	0.3709:0.6291:0.0:0.0	.	229;227;229;229	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	H	229;229;227;229;229	ENSP00000382661:Q229H;ENSP00000382659:Q229H;ENSP00000174621:Q227H;ENSP00000409627:Q229H;ENSP00000311692:Q229H	ENSP00000174621:Q227H	Q	-	3	2	TRPV1	3440353	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	0.683000	0.25349	2.555000	0.86185	0.467000	0.42956	CAG		0.582	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		42	366	1	0	4.06502e-11	1	4.33256e-11	42	366				
CHRM5	1133	broad.mit.edu	37	15	34355538	34355538	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355538C>A	ENST00000383263.5	+	3	1290	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	207					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATCCCTGTTTCTGTCATGACC	0.532																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(619-621)tCt>tAt		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						251.0	261.0	257.0					15																	34355538		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355538C>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.620C>A	15.37:g.34355538C>A	ENSP00000372750:p.Ser207Tyr					CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	p.S207Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1290	+		all_lung(180;1.76e-08)	207					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.620C>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948850	0.73787	.	.	ENSG00000184984	ENST00000383263	T	0.38560	1.13	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.130454	0.53938	D	0.000044	T	0.68668	0.3026	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.72924	-0.4144	10	0.87932	D	0	-14.5017	19.1883	0.93653	0.0:1.0:0.0:0.0	.	207	P08912	ACM5_HUMAN	Y	207	ENSP00000372750:S207Y	ENSP00000372750:S207Y	S	+	2	0	CHRM5	32142830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.764000	0.94973	0.650000	0.86243	TCT		0.532	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			263	1149	1	0	1.24967e-88	1	1.60295e-88	263	1149				
CFAP54	144535	broad.mit.edu	37	12	97147575	97147575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97147575A>C	ENST00000524981.4	+	56	7762	c.7739A>C	c.(7738-7740)aAg>aCg	p.K2580T				Q96N23	CL055_HUMAN		0																	GACCCCTCGAAGTGGTTACCT	0.423																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3091-3093)aAg>aCg									126.0	120.0	122.0					12																	97147575		2203	4300	6503	SO:0001583	missense	0							g.chr12:97147575A>C																												ENST00000524981.4:c.7739A>C	12.37:g.97147575A>C	ENSP00000431759:p.Lys2580Thr						p.K1031T			Q6ZTY8	CL063_HUMAN			23	3092	+			1005						Missense_Mutation	SNP	ENST00000524981.4	37	c.3092A>C		.	.	.	.	.	.	.	.	.	.	A	14.26	2.483627	0.44147	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.77	4.77	0.60923	.	0.329749	0.28946	N	0.013636	T	0.39572	0.1083	L	0.60455	1.87	0.28229	N	0.926183	P	0.44429	0.835	B	0.41894	0.369	T	0.42799	-0.9430	9	0.46703	T	0.11	-6.1197	9.2436	0.37511	0.839:0.0:0.0:0.161	.	1005	Q6ZTY8	CL063_HUMAN	T	2580;1005	.	ENSP00000345466:K1005T	K	+	2	0	C12orf63	95671706	0.822000	0.29219	0.920000	0.36463	0.326000	0.28443	2.435000	0.44811	1.910000	0.55303	0.379000	0.24179	AAG		0.423	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			89	415	0	0	0	1	0	89	415				
GLP2R	9340	broad.mit.edu	37	17	9745927	9745927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9745927G>T	ENST00000262441.5	+	4	1011	c.498G>T	c.(496-498)aaG>aaT	p.K166N	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	166					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACAGCTTCAAGCAAAACGTGA	0.577																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(496-498)aaG>aaT		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						105.0	84.0	91.0					17																	9745927		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9745927G>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.498G>T	17.37:g.9745927G>T	ENSP00000262441:p.Lys166Asn					GLP2R_ENST00000574745.1_5'UTR	p.K166N	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			4	1011	+			166					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.498G>T	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.886026|1.886026	0.33348|0.33348	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.37058|.	1.22|.	5.06|5.06	-3.89|-3.89	0.04193|0.04193	.|.	0.382542|.	0.19105|.	N|.	0.122616|.	T|T	0.30198|0.30198	0.0757|0.0757	L|L	0.47716|0.47716	1.5|1.5	0.18873|0.18873	N|N	0.999983|0.999983	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.30854|.	T|.	0.27|.	.|.	1.3143|1.3143	0.02104|0.02104	0.404:0.2461:0.2295:0.1204|0.404:0.2461:0.2295:0.1204	.|.	166|.	O95838|.	GLP2R_HUMAN|.	N|I	166;141;166|19	ENSP00000262441:K166N|.	ENSP00000262441:K166N|.	K|S	+|+	3|2	2|0	GLP2R|GLP2R	9686652|9686652	0.458000|0.458000	0.25760|0.25760	0.001000|0.001000	0.08648|0.08648	0.961000|0.961000	0.63080|0.63080	0.511000|0.511000	0.22739|0.22739	-0.874000|-0.874000	0.04027|0.04027	-0.181000|-0.181000	0.13052|0.13052	AAG|AGC		0.577	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			59	216	1	0	4.13886e-29	1	4.83036e-29	59	216				
MOG	4340	broad.mit.edu	37	6	29640963	29640963	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29640963C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.A289T|ZFP57_ENST00000376881.3_Missense_Mutation_p.A289T|ZFP57_ENST00000488757.1_Missense_Mutation_p.A309T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGGCTTCTGGCGATGGGTGTC	0.547																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(865-867)Gcc>Acc		ZFP57 zinc finger protein							130.0	138.0	135.0					6																	29640963		1213	2525	3738	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640963C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640963C>T						ZFP57_ENST00000488757.1_Missense_Mutation_p.A309T|ZFP57_ENST00000376881.3_Missense_Mutation_p.A289T	p.A289T			Q9NU63	ZFP57_HUMAN			6	1276	-			225					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.865G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	2.158	-0.392957	0.04899	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05258	3.47;3.69;3.69	2.51	-4.64	0.03349	.	5.236760	0.00357	N	0.000029	T	0.00754	0.0025	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	10	0.59425	D	0.04	4.3909	1.7189	0.02908	0.138:0.4272:0.1366:0.2982	.	309;289	Q9NU63-3;Q9NU63-2	.;.	T	309;289;289	ENSP00000418259:A309T;ENSP00000366078:A289T;ENSP00000366080:A289T	ENSP00000366078:A289T	A	-	1	0	ZFP57	29748942	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.236000	0.00139	-1.344000	0.02216	-1.411000	0.01122	GCC		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		151	608	0	0	0	1	0	151	608				
TTBK2	146057	broad.mit.edu	37	15	43045264	43045264	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43045264C>A	ENST00000267890.6	-	14	2288	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	727					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAAATCTGTTCTGCTTCCTCC	0.463																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2179-2181)aGa>aTa		tau tubulin kinase 2							154.0	149.0	150.0					15																	43045264		1887	4105	5992	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43045264C>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2180G>T	15.37:g.43045264C>A	ENSP00000267890:p.Arg727Ile						p.R727I	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2288	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	727					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2180G>T	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410801	0.62399	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39997	1.05	5.66	5.66	0.87406	.	0.103999	0.51477	D	0.000086	T	0.52468	0.1736	L	0.54323	1.7	0.80722	D	1	D;P	0.53462	0.96;0.868	P;B	0.54312	0.748;0.383	T	0.53746	-0.8395	10	0.72032	D	0.01	.	13.9765	0.64277	0.0:0.9278:0.0:0.0722	.	658;727	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	I	727;657;1132	ENSP00000267890:R727I	ENSP00000263802:R1132I	R	-	2	0	TTBK2	40832556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.964000	0.40462	2.661000	0.90470	0.655000	0.94253	AGA		0.463	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		67	682	1	0	1.7104e-27	1	1.9812e-27	67	682				
TOPBP1	11073	broad.mit.edu	37	3	133375563	133375563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133375563G>T	ENST00000260810.5	-	5	633	c.502C>A	c.(502-504)Ctt>Att	p.L168I	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	168	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CAAGAGGGAAGCAAAATAGGT	0.323								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(502-504)Ctt>Att	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							107.0	104.0	105.0					3																	133375563		1823	4088	5911	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133375563G>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.502C>A	3.37:g.133375563G>T	ENSP00000260810:p.Leu168Ile					TOPBP1_ENST00000511439.1_5'UTR	p.L168I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			5	633	-			168			BRCT 1.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.502C>A	CCDS46919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195804|4.195804	0.78902|0.78902	.|.	.|.	ENSG00000163781|ENSG00000163781	ENST00000508524|ENST00000260810	.|T	.|0.79247	.|-1.25	5.33|5.33	5.33|5.33	0.75918|0.75918	.|BRCT (4);	.|0.071226	.|0.56097	.|D	.|0.000021	.|D	.|0.87071	.|0.6086	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.99999|0.99999	.|D	.|0.71674	.|0.998	.|D	.|0.68765	.|0.96	.|D	.|0.85799	.|0.1372	.|10	.|0.37606	.|T	.|0.19	.|.	19.0309|19.0309	0.92957|0.92957	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168	.|Q92547	.|TOPB1_HUMAN	X|I	12|168	.|ENSP00000260810:L168I	.|ENSP00000260810:L168I	C|L	-|-	3|1	2|0	TOPBP1|TOPBP1	134858253|134858253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.582000|5.582000	0.67477|0.67477	2.496000|2.496000	0.84212|0.84212	0.563000|0.563000	0.77884|0.77884	TGC|CTT		0.323	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		87	372	1	0	1.17611e-34	1	1.40019e-34	87	372				
SMCR8	140775	broad.mit.edu	37	17	18219847	18219847	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219847C>T	ENST00000406438.3	+	1	1224	c.744C>T	c.(742-744)gaC>gaT	p.D248D	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	248						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AACATCAAGACCTGCTGAAGC	0.498																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(742-744)gaC>gaT		Smith-Magenis syndrome chromosome region, candidate 8							71.0	56.0	61.0					17																	18219847		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18219847C>T	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.744C>T	17.37:g.18219847C>T							p.D248D	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1224	+			248					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.744C>T	CCDS11195.2																																																																																				0.498	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		32	188	0	0	0	1	0	32	188				
TRIOBP	11078	broad.mit.edu	37	22	38120147	38120147	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38120147A>G	ENST00000406386.3	+	7	1839	c.1584A>G	c.(1582-1584)acA>acG	p.T528T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	528					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCCAGAACATCCTGCGCCC	0.597																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1582-1584)acA>acG		TRIO and F-actin binding protein							63.0	104.0	91.0					22																	38120147		1931	4157	6088	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120147A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1584A>G	22.37:g.38120147A>G						RP1-37E16.12_ENST00000455236.1_RNA	p.T528T	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1839	+	Melanoma(58;0.0574)		528					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1584A>G	CCDS43015.1																																																																																				0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			113	875	0	0	0	1	0	113	875				
PHACTR4	65979	broad.mit.edu	37	1	28807089	28807089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28807089G>A	ENST00000373839.3	+	9	1994	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	PHACTR4_ENST00000493669.1_3'UTR|RNU6ATAC27P_ENST00000408289.1_RNA|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	578					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AATGAAATACGGCACCAGATT	0.423																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1732-1734)cGg>cAg		phosphatase and actin regulator 4							224.0	206.0	212.0					1																	28807089		2000	4169	6169	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28807089G>A	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1733G>A	1.37:g.28807089G>A	ENSP00000362945:p.Arg578Gln					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q	p.R578Q	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	9	1994	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	578					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1733G>A	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775338	0.90108	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.39229	1.11;1.09	5.62	4.71	0.59529	.	0.112912	0.64402	D	0.000010	T	0.65144	0.2663	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.73708	0.966;0.981	T	0.70389	-0.4885	10	0.72032	D	0.01	-4.0794	13.5134	0.61526	0.075:0.0:0.925:0.0	.	588;578	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	Q	578;588;577	ENSP00000362945:R578Q;ENSP00000362942:R588Q	ENSP00000362942:R588Q	R	+	2	0	PHACTR4	28679676	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.913000	0.87471	1.379000	0.46325	-0.234000	0.12200	CGG		0.423	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		67	680	0	0	0	1	0	67	680				
C1orf85	112770	broad.mit.edu	37	1	156263838	156263838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156263838C>T	ENST00000362007.1	-	4	795	c.769G>A	c.(769-771)Gac>Aac	p.D257N	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	257					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TATTCATCGTCGATGGAGTGC	0.587																																						ENST00000362007.1																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.(769-771)Gac>Aac		chromosome 1 open reading frame 85							117.0	113.0	114.0					1																	156263838		2203	4300	6503	SO:0001583	missense	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156263838C>T	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.769G>A	1.37:g.156263838C>T	ENSP00000354553:p.Asp257Asn					C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.D171N	p.D257N	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN			4	795	-	Hepatocellular(266;0.158)		257					A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	ENST00000362007.1	37	c.769G>A	CCDS1139.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063799	0.76187	.	.	ENSG00000198715	ENST00000362007;ENST00000368264	T;T	0.49139	0.79;0.79	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.76328	2.33	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67948	-0.5538	10	0.87932	D	0	-3.9229	16.9635	0.86279	0.0:1.0:0.0:0.0	.	176;257	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	N	257;171	ENSP00000354553:D257N;ENSP00000357247:D171N	ENSP00000354553:D257N	D	-	1	0	C1orf85	154530462	1.000000	0.71417	0.763000	0.31416	0.327000	0.28475	5.832000	0.69337	2.611000	0.88343	0.462000	0.41574	GAC		0.587	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		30	920	0	0	0	1	0	30	920				
NR4A1	3164	broad.mit.edu	37	12	52450304	52450304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450304C>T	ENST00000243050.1	+	5	1347	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|NR4A1_ENST00000545748.1_Missense_Mutation_p.R399W|NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	345					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGAAGGGGCGGCGGGGCCG	0.627																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1195-1197)Cgg>Tgg		nuclear receptor subfamily 4, group A, member 1							73.0	81.0	78.0					12																	52450304		2203	4300	6503	SO:0001583	missense	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52450304C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1033C>T	12.37:g.52450304C>T	ENSP00000243050:p.Arg345Trp					NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W|NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W|NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|NR4A1_ENST00000243050.1_Missense_Mutation_p.R345W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W	p.R399W			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	5	2190	+			345					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1195C>T	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845760	0.71603	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70288	-0.4913	10	0.87932	D	0	.	11.7537	0.51863	0.1767:0.8233:0.0:0.0	.	358;345	B4DML7;P22736	.;NR4A1_HUMAN	W	358;399;358;345;345;345	ENSP00000353427:R358W;ENSP00000440864:R399W;ENSP00000449539:R358W;ENSP00000243050:R345W;ENSP00000378302:R345W;ENSP00000378301:R345W	ENSP00000243050:R345W	R	+	1	2	NR4A1	50736571	0.363000	0.24989	0.990000	0.47175	0.982000	0.71751	0.963000	0.29293	2.667000	0.90743	0.561000	0.74099	CGG		0.627	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			29	831	0	0	0	1	0	29	831				
CCDC73	493860	broad.mit.edu	37	11	32635397	32635397	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635397T>G	ENST00000335185.5	-	16	2510	c.2467A>C	c.(2467-2469)Aaa>Caa	p.K823Q	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	823										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGGTCATTTTTTGTGGCTTCA	0.323																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2467-2469)Aaa>Caa		coiled-coil domain containing 73							130.0	114.0	119.0					11																	32635397		1818	4085	5903	SO:0001583	missense	493860							g.chr11:32635397T>G	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2467A>C	11.37:g.32635397T>G	ENSP00000335325:p.Lys823Gln						p.K823Q	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	2510	-	Breast(20;0.112)		823					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.2467A>C	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578306	0.45902	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	3.16	0.36331	.	0.549721	0.17406	N	0.175351	T	0.26085	0.0636	L	0.40543	1.245	0.09310	N	0.999998	P	0.40431	0.717	B	0.37198	0.243	T	0.09684	-1.0663	9	0.45353	T	0.12	.	7.0619	0.25131	0.0:0.0767:0.1469:0.7764	.	823	Q6ZRK6	CCD73_HUMAN	Q	823	.	ENSP00000335325:K823Q	K	-	1	0	CCDC73	32591973	0.380000	0.25131	0.064000	0.19789	0.885000	0.51271	1.191000	0.32138	0.918000	0.36919	0.528000	0.53228	AAA		0.323	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		99	453	0	0	0	1	0	99	453				
SMG6	23293	broad.mit.edu	37	17	2139898	2139898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139898G>A	ENST00000263073.6	-	10	2807	c.2757C>T	c.(2755-2757)gtC>gtT	p.V919V	AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.V11V|SMG6_ENST00000544865.1_Silent_p.V888V|SMG6_ENST00000354901.4_Silent_p.V11V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	919					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCTTGAGGACCTTCTCAG	0.502																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2662-2664)gtC>gtT		SMG6 nonsense mediated mRNA decay factor							133.0	110.0	118.0					17																	2139898		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2139898G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2757C>T	17.37:g.2139898G>A						SMG6_ENST00000536871.2_Silent_p.V11V|SMG6_ENST00000263073.5_Silent_p.V919V|SMG6_ENST00000354901.4_Silent_p.V11V	p.V888V			Q86US8	EST1A_HUMAN			10	3174	-			919					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.2664C>T	CCDS11016.1																																																																																				0.502	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			70	296	0	0	0	1	0	70	296				
SCFD1	23256	broad.mit.edu	37	14	31144232	31144232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31144232C>T	ENST00000458591.2	+	14	1430	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000541123.1_Silent_p.L216L|SCFD1_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000421551.3_Silent_p.L342L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	401					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TTATTGATCTCCATACAAATG	0.299																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(1201-1203)ctC>ctT		sec1 family domain containing 1							72.0	73.0	72.0					14																	31144232		2203	4298	6501	SO:0001819	synonymous_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31144232C>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1203C>T	14.37:g.31144232C>T						SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000421551.3_Silent_p.L342L|SCFD1_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000541123.1_Silent_p.L216L	p.L401L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	14	1430	+	Hepatocellular(127;0.0877)		401					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	c.1203C>T	CCDS9639.1																																																																																				0.299	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		49	264	0	0	0	1	0	49	264				
SLC2A4RG	56731	broad.mit.edu	37	20	62372827	62372827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62372827G>A	ENST00000266077.2	+	3	438	c.386G>A	c.(385-387)aGc>aAc	p.S129N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGCCTTCAGCCCAGGTAAG	0.627																																						ENST00000266077.2																			0				NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7						c.(385-387)aGc>aAc		SLC2A4 regulator							37.0	38.0	38.0					20																	62372827		2200	4300	6500	SO:0001583	missense	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62372827G>A	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.386G>A	20.37:g.62372827G>A	ENSP00000266077:p.Ser129Asn					SLC2A4RG_ENST00000493772.1_3'UTR	p.S129N	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN			3	438	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		129					Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	37	c.386G>A	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891685	0.17613	.	.	ENSG00000125520	ENST00000266077	T	0.33438	1.41	4.08	3.07	0.35406	.	0.211659	0.23160	U	0.051245	T	0.26376	0.0644	L	0.55481	1.735	0.09310	N	1	P	0.50528	0.936	B	0.42030	0.373	T	0.14200	-1.0481	10	0.40728	T	0.16	.	7.8892	0.29667	0.0:0.294:0.5475:0.1585	.	129	Q9NR83	S2A4R_HUMAN	N	129	ENSP00000266077:S129N	ENSP00000266077:S129N	S	+	2	0	SLC2A4RG	61843271	0.288000	0.24324	0.194000	0.23346	0.096000	0.18686	1.799000	0.38824	1.847000	0.53656	0.491000	0.48974	AGC		0.627	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		29	182	0	0	0	1	0	29	182				
TXLNB	167838	broad.mit.edu	37	6	139563819	139563819	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139563819T>C	ENST00000358430.3	-	10	2131	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	633						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGCGCATGCTGGAGCAGGCA	0.647																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1897-1899)ccA>ccG		taxilin beta							78.0	83.0	81.0					6																	139563819		2203	4300	6503	SO:0001819	synonymous_variant	167838					cytoplasm		g.chr6:139563819T>C		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1899A>G	6.37:g.139563819T>C						RP1-225E12.3_ENST00000585874.1_RNA	p.P633P	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	2131	-			633					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	c.1899A>G	CCDS34545.1																																																																																				0.647	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		117	556	0	0	0	1	0	117	556				
MRPL51	51258	broad.mit.edu	37	12	6601500	6601500	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6601500G>A	ENST00000229238.3	-	3	785	c.324C>T	c.(322-324)caC>caT	p.H108H	MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank|NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Silent_p.H12H	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	108					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TATTAAGGTTGTGCAGGTCAT	0.448																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(322-324)caC>caT		mitochondrial ribosomal protein L51							296.0	284.0	288.0					12																	6601500		2203	4300	6503	SO:0001819	synonymous_variant	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6601500G>A	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.324C>T	12.37:g.6601500G>A						MRPL51_ENST00000543703.1_Silent_p.H12H|MRPL51_ENST00000543164.1_5'UTR	p.H108H	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN			3	785	-			108					Q96Q57|Q9BQ36|Q9P0N7	Silent	SNP	ENST00000229238.3	37	c.324C>T	CCDS8547.1																																																																																				0.448	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		175	892	0	0	0	1	0	175	892				
FZD1	8321	broad.mit.edu	37	7	90895700	90895700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895700G>A	ENST00000287934.2	+	1	1918	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	502					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTTTATCGGCACGTCCTTT	0.602																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1504-1506)gGc>gAc		frizzled family receptor 1							173.0	152.0	159.0					7																	90895700		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895700G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1505G>A	7.37:g.90895700G>A	ENSP00000287934:p.Gly502Asp						p.G502D	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1918	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		502					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1505G>A	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582437	0.86748	.	.	ENSG00000157240	ENST00000287934	D	0.92249	-3.0	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.97567	0.9203	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98994	1.0809	10	0.87932	D	0	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	502	Q9UP38	FZD1_HUMAN	D	502	ENSP00000287934:G502D	ENSP00000287934:G502D	G	+	2	0	FZD1	90733636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.491000	0.84063	0.655000	0.94253	GGC		0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		196	792	0	0	0	1	0	196	792				
GRM1	2911	broad.mit.edu	37	6	146678707	146678707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146678707C>T	ENST00000282753.1	+	5	1714	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	GRM1_ENST00000361719.2_Silent_p.D493D|GRM1_ENST00000392299.2_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000492807.2_Silent_p.D493D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	493					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCGCTATGACTATGTGCACG	0.413																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1477-1479)gaC>gaT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						188.0	153.0	165.0					6																	146678707		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146678707C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1479C>T	6.37:g.146678707C>T						GRM1_ENST00000492807.2_Silent_p.D493D|GRM1_ENST00000282753.1_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000361719.2_Silent_p.D493D	p.D493D			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	6	1949	+		Ovarian(120;0.0387)	493					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.1479C>T	CCDS5209.1																																																																																				0.413	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		68	288	0	0	0	1	0	68	288				
SLC8A3	6547	broad.mit.edu	37	14	70633807	70633807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70633807C>T	ENST00000381269.2	-	2	2086	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	445	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AACTCATAGTCAGCCCCTGCA	0.512																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1333-1335)Gac>Aac		solute carrier family 8 (sodium/calcium exchanger), member 3							148.0	140.0	143.0					14																	70633807		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633807C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1333G>A	14.37:g.70633807C>T	ENSP00000370669:p.Asp445Asn					SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N	p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2086	-			445			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1333G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129873	0.77549	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.72	5.72	0.89469	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	D	0.86941	0.2079	10	0.54805	T	0.06	.	19.8887	0.96921	0.0:1.0:0.0:0.0	.	445;445;445;445	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	445	ENSP00000349392:D445N;ENSP00000370669:D445N;ENSP00000350560:D445N;ENSP00000436688:D445N;ENSP00000433531:D445N	ENSP00000349392:D445N	D	-	1	0	SLC8A3	69703560	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.811000	0.86092	2.686000	0.91538	0.643000	0.83706	GAC		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			187	742	0	0	0	1	0	187	742				
TMEM182	130827	broad.mit.edu	37	2	103414328	103414328	+	Missense_Mutation	SNP	G	G	A	rs376008407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103414328G>A	ENST00000412401.2	+	4	543	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	113						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCAGTTTACCGTGGTTTCTGG	0.463																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(337-339)cGt>cAt		transmembrane protein 182		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	88.0	92.0	91.0		338	5.2	1.0	2		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM182	NM_144632.3	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	113/230	103414328	3,13003	2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103414328G>A	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.338G>A	2.37:g.103414328G>A	ENSP00000394178:p.Arg113His					TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H	p.R113H	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			4	543	+			113					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.338G>A	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032092	0.93575	4.54E-4	1.16E-4	ENSG00000170417	ENST00000454536;ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.69040	-0.37;-0.37;-0.37	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83688	0.0175	10	0.87932	D	0	-17.6232	19.1731	0.93588	0.0:0.0:1.0:0.0	.	113;70	Q6ZP80;B8ZZ71	TM182_HUMAN;.	H	70;17;70;113	ENSP00000387258:R17H;ENSP00000387184:R70H;ENSP00000394178:R113H	ENSP00000387184:R70H	R	+	2	0	TMEM182	102780760	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	8.939000	0.92951	2.613000	0.88420	0.655000	0.94253	CGT		0.463	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		135	355	0	0	0	1	0	135	355				
VIL1	7429	broad.mit.edu	37	2	219295631	219295631	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219295631C>T	ENST00000248444.5	+	10	1190				VIL1_ENST00000440053.1_Missense_Mutation_p.P378S|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1						actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTGAGGGAGCCAGGATCCAG	0.632																																						ENST00000440053.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1132-1134)Cca>Tca		villin 1							18.0	17.0	17.0					2																	219295631		2197	4299	6496	SO:0001627	intron_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219295631C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1102+30C>T	2.37:g.219295631C>T						VIL1_ENST00000248444.5_Intron|VIL1_ENST00000392114.2_Intron	p.P378S			P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1146	+		Renal(207;0.0474)	0			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1132C>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361638	0.24684	.	.	ENSG00000127831	ENST00000440053	T	0.19532	2.14	2.86	-4.11	0.03928	.	.	.	.	.	T	0.08403	0.0209	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35450	-0.9788	7	.	.	.	.	0.9972	0.01470	0.1624:0.2787:0.3226:0.2362	.	378	Q96AC8	.	S	378	ENSP00000409270:P378S	.	P	+	1	0	VIL1	219003875	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.730000	0.04915	-0.944000	0.03686	-0.502000	0.04539	CCA		0.632	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		21	54	0	0	0	1	0	21	54				
GPALPP1	55425	broad.mit.edu	37	13	45578554	45578554	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45578554A>G	ENST00000379151.4	+	2	306	c.203A>G	c.(202-204)gAc>gGc	p.D68G	GPALPP1_ENST00000357537.3_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Missense_Mutation_p.D68G|RN7SL49P_ENST00000581392.1_RNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	68																	GAAGAAGATGACAGTGGTCCA	0.388																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(202-204)gAc>gGc									73.0	71.0	72.0					13																	45578554		2203	4300	6503	SO:0001583	missense	0							g.chr13:45578554A>G	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.203A>G	13.37:g.45578554A>G	ENSP00000368447:p.Asp68Gly					RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Missense_Mutation_p.D68G	p.D68G			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	2	238	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	68					A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	c.203A>G	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720677	0.48728	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	5.61	5.61	0.85477	.	0.515740	0.22217	N	0.063012	T	0.42810	0.1219	L	0.54323	1.7	0.40437	D	0.98	P	0.43094	0.799	B	0.33339	0.162	T	0.41270	-0.9518	9	0.20046	T	0.44	-3.8457	13.1729	0.59609	1.0:0.0:0.0:0.0	.	68	Q8IXQ4	K1704_HUMAN	G	68	.	ENSP00000355211:D68G	D	+	2	0	KIAA1704	44476554	0.999000	0.42202	0.982000	0.44146	0.948000	0.59901	4.764000	0.62264	2.130000	0.65690	0.477000	0.44152	GAC		0.388	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		6	309	0	0	0	1	0	6	309				
KIF1B	23095	broad.mit.edu	37	1	10386320	10386320	+	Missense_Mutation	SNP	G	G	A	rs142567076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10386320G>A	ENST00000377086.1	+	27	3029	c.2827G>A	c.(2827-2829)Gcc>Acc	p.A943T	KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T|KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T			O60333	KIF1B_HUMAN	kinesin family member 1B	943					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A897T(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGTGGATGACGCCGGCTCTGA	0.547																																						ENST00000377086.1																			1	Substitution - Missense(1)	p.A897T(1)	large_intestine(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2827-2829)Gcc>Acc		kinesin family member 1B		G	THR/ALA	0,4406		0,0,2203	138.0	122.0	127.0		2689	3.2	1.0	1	dbSNP_134	127	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KIF1B	NM_015074.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	897/1771	10386320	4,13002	2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386320G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2827G>A	1.37:g.10386320G>A	ENSP00000366290:p.Ala943Thr					KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T|KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T	p.A943T			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	27	3029	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	943					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2827G>A		.	.	.	.	.	.	.	.	.	.	G	6.925	0.540275	0.13250	0.0	4.65E-4	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71341	-0.49;-0.56;-0.56	5.6	3.16	0.36331	.	0.107337	0.64402	N	0.000005	T	0.31071	0.0785	N	0.00661	-1.28	0.27977	N	0.936175	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.36016	-0.9765	10	0.05436	T	0.98	.	8.6096	0.33795	0.8277:0.0:0.1723:0.0	.	929;903;943;917;943;897	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	943;897;943;943	ENSP00000263934:A897T;ENSP00000366290:A943T;ENSP00000366284:A943T	ENSP00000263934:A897T	A	+	1	0	KIF1B	10308907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.138000	0.58017	0.857000	0.35407	-0.355000	0.07637	GCC		0.547	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			115	428	0	0	0	1	0	115	428				
DLAT	1737	broad.mit.edu	37	11	111899614	111899614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111899614C>T	ENST00000280346.6	+	4	1264	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_ENST00000393051.1_Missense_Mutation_p.S202L|DLAT_ENST00000537636.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	202					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GCCACTGCTTCGCCACCTACA	0.532																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(604-606)tCg>tTg		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						87.0	86.0	87.0					11																	111899614		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111899614C>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.605C>T	11.37:g.111899614C>T	ENSP00000280346:p.Ser202Leu					DLAT_ENST00000393051.1_Missense_Mutation_p.S202L|DLAT_ENST00000537636.1_Intron	p.S202L	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	4	1264	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	202					Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.605C>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	6.901	0.535718	0.13188	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.16897	2.31;2.41	5.4	2.49	0.30216	.	1.048000	0.07534	N	0.912785	T	0.12860	0.0312	N	0.22421	0.69	0.18873	N	0.999988	B;B	0.22541	0.071;0.002	B;B	0.11329	0.006;0.0	T	0.32375	-0.9909	10	0.31617	T	0.26	2.3041	10.952	0.47334	0.0:0.7928:0.0:0.2072	.	202;202	E9PEJ4;P10515	.;ODP2_HUMAN	L	202;170;202	ENSP00000280346:S202L;ENSP00000376771:S202L	ENSP00000280346:S202L	S	+	2	0	DLAT	111404824	0.173000	0.23056	0.000000	0.03702	0.050000	0.14768	2.911000	0.48774	0.660000	0.30964	-0.225000	0.12378	TCG		0.532	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		123	458	0	0	0	1	0	123	458				
CD93	22918	broad.mit.edu	37	20	23065886	23065886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23065886G>A	ENST00000246006.4	-	1	1091	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGCACGTGGCCCCCCCACG	0.632																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(943-945)gCc>gTc		CD93 molecule							42.0	46.0	45.0					20																	23065886		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065886G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.944C>T	20.37:g.23065886G>A	ENSP00000246006:p.Ala315Val						p.A315V	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1091	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		315			EGF-like 2.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.944C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373803	0.24857	.	.	ENSG00000125810	ENST00000246006	D	0.88431	-2.38	5.42	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.115159	0.38778	N	0.001580	D	0.86665	0.5987	M	0.83483	2.645	0.09310	N	1	B	0.28760	0.221	B	0.22386	0.039	T	0.73757	-0.3882	10	0.17832	T	0.49	-22.1666	8.9853	0.35990	0.076:0.0:0.7781:0.1459	.	315	Q9NPY3	C1QR1_HUMAN	V	315	ENSP00000246006:A315V	ENSP00000246006:A315V	A	-	2	0	CD93	23013886	0.009000	0.17119	0.024000	0.17045	0.049000	0.14656	1.116000	0.31221	1.386000	0.46466	0.650000	0.86243	GCC		0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		79	401	0	0	0	1	0	79	401				
GAN	8139	broad.mit.edu	37	16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81391435C>T	ENST00000568107.2	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	291					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(871-873)gCg>gTg		gigaxonin							182.0	162.0	169.0					16																	81391435		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81391435C>T	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.872C>T	16.37:g.81391435C>T	ENSP00000476795:p.Ala291Val						p.A291V	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			5	1034	+		Colorectal(91;0.153)	291						Missense_Mutation	SNP	ENST00000568107.2	37	c.872C>T	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192697	0.38707	.	.	ENSG00000127688	ENST00000248272	T	0.74737	-0.87	5.94	2.64	0.31445	Galactose oxidase, beta-propeller (1);	0.618014	0.18018	N	0.154339	T	0.53867	0.1823	N	0.14661	0.345	0.31137	N	0.707028	B	0.06786	0.001	B	0.01281	0.0	T	0.53049	-0.8493	10	0.45353	T	0.12	.	6.9145	0.24352	0.0:0.5983:0.0:0.4017	.	291	Q9H2C0	GAN_HUMAN	V	291	ENSP00000248272:A291V	ENSP00000248272:A291V	A	+	2	0	GAN	79948936	0.865000	0.29922	0.163000	0.22734	0.760000	0.43138	1.208000	0.32345	0.854000	0.35336	0.557000	0.71058	GCG		0.433	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			132	721	0	0	0	1	0	132	721				
MARCH11	441061	broad.mit.edu	37	5	16177968	16177968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16177968C>T	ENST00000332432.8	-	2	759	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MARCH11_ENST00000505509.1_5'UTR|RP11-19O2.2_ENST00000509037.1_RNA	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	187					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCCATCACATCGGCAGGGGTT	0.418																																						ENST00000332432.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						c.(559-561)cGa>cAa		membrane-associated ring finger (C3HC4) 11							87.0	84.0	85.0					5																	16177968		1901	4127	6028	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177968C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.560G>A	5.37:g.16177968C>T	ENSP00000333181:p.Arg187Gln					MARCH11_ENST00000505509.1_5'UTR	p.R187Q	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN			2	759	-			187					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.560G>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309146	0.95629	.	.	ENSG00000183654	ENST00000332432	T	0.55234	0.53	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.56097	U	0.000033	T	0.70413	0.3221	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71196	-0.4664	10	0.72032	D	0.01	-5.0254	19.7964	0.96487	0.0:1.0:0.0:0.0	.	187	A6NNE9	MARHB_HUMAN	Q	187	ENSP00000333181:R187Q	ENSP00000333181:R187Q	R	-	2	0	MARCH11	16230968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.731000	0.84895	2.702000	0.92279	0.655000	0.94253	CGA		0.418	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		44	210	0	0	0	1	0	44	210				
RHBG	57127	broad.mit.edu	37	1	156339202	156339202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156339202C>T	ENST00000368249.1	+	1	200	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RHBG_ENST00000537040.1_Silent_p.D54D|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000368246.2_Silent_p.D54D|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	54					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTAACGCGGACAATGAATTTT	0.582																																						ENST00000368249.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(160-162)gaC>gaT		Rh family, B glycoprotein (gene/pseudogene)							29.0	31.0	30.0					1																	156339202		1983	4156	6139	SO:0001819	synonymous_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156339202C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.162C>T	1.37:g.156339202C>T						RHBG_ENST00000537040.1_Silent_p.D54D|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000368246.2_Silent_p.D54D|RHBG_ENST00000255013.3_5'UTR	p.D54D	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN			1	200	+	Hepatocellular(266;0.158)		54					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.162C>T																																																																																					0.582	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		5	129	0	0	0	1	0	5	129				
GIGYF1	64599	broad.mit.edu	37	7	100284964	100284964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284964G>A	ENST00000275732.5	-	5	1648	c.439C>T	c.(439-441)Cga>Tga	p.R147*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	147					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGGGGCTTCGTCCAAAGGCC	0.652																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(439-441)Cga>Tga		GRB10 interacting GYF protein 1							72.0	79.0	77.0					7																	100284964		2203	4300	6503	SO:0001587	stop_gained	64599							g.chr7:100284964G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.439C>T	7.37:g.100284964G>A	ENSP00000275732:p.Arg147*					GIGYF1_ENST00000471340.2_Intron	p.R147*	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			5	1648	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		147					Q6Y7W7|Q8WZ38	Nonsense_Mutation	SNP	ENST00000275732.5	37	c.439C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	47	13.755068	0.99761	.	.	ENSG00000146830	ENST00000275732	.	.	.	5.21	2.19	0.27852	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0535	12.4892	0.55891	0.0:0.0:0.569:0.431	.	.	.	.	X	147	.	ENSP00000275732:R147X	R	-	1	2	GIGYF1	100122900	0.981000	0.34729	0.170000	0.22879	0.932000	0.56968	1.770000	0.38532	0.525000	0.28522	0.563000	0.77884	CGA		0.652	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		156	752	0	0	0	1	0	156	752				
SIGLEC8	27181	broad.mit.edu	37	19	51960443	51960443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960443G>A	ENST00000321424.3	-	3	842	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	259	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTACCTGTGGCATCTCCTTG	0.562																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(775-777)gCc>gTc		sialic acid binding Ig-like lectin 8							96.0	91.0	93.0					19																	51960443		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960443G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.776C>T	19.37:g.51960443G>A	ENSP00000321077:p.Ala259Val					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V|SIGLEC8_ENST00000430817.1_Intron	p.A259V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	842	-		all_neural(266;0.0199)	259			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.776C>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	4.032	0.003496	0.07866	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.61859	0.07;1.16	2.01	-3.68	0.04463	Immunoglobulin-like (1);	1.464450	0.04674	N	0.411134	T	0.26484	0.0647	N	0.02368	-0.58	0.09310	N	1	B;B	0.18610	0.02;0.029	B;B	0.20577	0.03;0.028	T	0.07849	-1.0751	10	0.23891	T	0.37	.	3.4536	0.07507	0.0:0.3377:0.2129:0.4494	.	166;259	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	V	259;166	ENSP00000321077:A259V;ENSP00000339448:A166V	ENSP00000321077:A259V	A	-	2	0	SIGLEC8	56652255	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.241000	0.08940	-0.772000	0.04602	-1.650000	0.00758	GCC		0.562	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		84	416	0	0	0	1	0	84	416				
DAGLB	221955	broad.mit.edu	37	7	6485682	6485682	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6485682G>T	ENST00000297056.6	-	2	318	c.149C>A	c.(148-150)gCt>gAt	p.A50D	DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|DAGLB_ENST00000428902.2_De_novo_Start_OutOfFrame|KDELR2_ENST00000463747.1_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	50					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCTCCACCAGCACAGTCCAG	0.473																																						ENST00000428902.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26								diacylglycerol lipase, beta							124.0	103.0	110.0					7																	6485682		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6485682G>T	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.149C>A	7.37:g.6485682G>T	ENSP00000297056:p.Ala50Asp					DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000297056.6_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000479922.2_5'UTR				Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	0	238	-		Ovarian(82;0.232)						A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Translation_Start_Site	SNP	ENST00000297056.6	37		CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	7.032	0.560885	0.13498	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.42900	1.0;0.96;0.99	4.43	3.52	0.40303	.	0.773939	0.12173	N	0.492814	T	0.29389	0.0732	L	0.42245	1.32	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.21245	-1.0251	10	0.11794	T	0.64	-7.8396	5.8177	0.18506	0.1701:0.0:0.666:0.1639	.	50;50	B4DQU0;Q8NCG7	.;DGLB_HUMAN	D	50;50;9;50;50	ENSP00000297056:A50D;ENSP00000391171:A50D;ENSP00000404785:A9D	ENSP00000297056:A50D	A	-	2	0	DAGLB	6452207	0.109000	0.22037	0.351000	0.25721	0.398000	0.30690	1.387000	0.34430	2.191000	0.70037	0.485000	0.47835	GCT		0.473	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		92	314	1	0	1.13884e-41	1	1.38436e-41	92	314				
RTP5	285093	broad.mit.edu	37	2	242815311	242815311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242815311G>T	ENST00000343216.3	+	2	1632	c.1604G>T	c.(1603-1605)aGg>aTg	p.R535M		NM_173821.2	NP_776182.2																					GCCTGCCGTAGGCCGCACGCC	0.642																																						ENST00000343216.3																			0											c.(1603-1605)aGg>aTg		CXXC finger protein 11							75.0	86.0	82.0					2																	242815311		2068	4172	6240	SO:0001583	missense	285093					integral to membrane		g.chr2:242815311G>T																												ENST00000343216.3:c.1604G>T	2.37:g.242815311G>T	ENSP00000345374:p.Arg535Met						p.R535M	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1632	+			535						Missense_Mutation	SNP	ENST00000343216.3	37	c.1604G>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	14.67	2.605771	0.46527	.	.	ENSG00000188011	ENST00000343216	T	0.27890	1.64	2.06	0.129	0.14739	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.56042	0.79	T	0.10359	-1.0633	9	0.72032	D	0.01	-7.2163	3.2603	0.06846	0.1753:0.2793:0.5455:0.0	.	535	Q14D33	CB085_HUMAN	M	535	ENSP00000345374:R535M	ENSP00000345374:R535M	R	+	2	0	C2orf85	242463984	0.000000	0.05858	0.012000	0.15200	0.347000	0.29111	0.031000	0.13710	0.028000	0.15324	0.196000	0.17591	AGG		0.642	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			240	690	1	0	1.26059e-112	1	1.62275e-112	240	690				
ATG2A	23130	broad.mit.edu	37	11	64662641	64662641	+	Missense_Mutation	SNP	G	G	A	rs369775317		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64662641G>A	ENST00000377264.3	-	41	5733	c.5621C>T	c.(5620-5622)tCg>tTg	p.S1874L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1876L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1874					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGGCCCCGCGATGCCACGTC	0.677																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(5626-5628)tCg>tTg		autophagy related 2A		G	LEU/SER	0,4400		0,0,2200	30.0	33.0	32.0		5621	3.8	0.1	11		32	1,8583		0,1,4291	no	missense	ATG2A	NM_015104.2	145	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1874/1939	64662641	1,12983	2200	4292	6492	SO:0001583	missense	23130						protein binding	g.chr11:64662641G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5621C>T	11.37:g.64662641G>A	ENSP00000366475:p.Ser1874Leu					ATG2A_ENST00000377264.3_Missense_Mutation_p.S1874L	p.S1876L			Q2TAZ0	ATG2A_HUMAN			41	5741	-			1874					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5627C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022483	0.54683	0.0	1.16E-4	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.07327	3.2;3.2	3.83	3.83	0.44106	Autophagy-related, C-terminal (1);	0.074853	0.53938	D	0.000047	T	0.08980	0.0222	L	0.32530	0.975	0.47308	D	0.99938	P;P	0.49862	0.929;0.912	P;B	0.45037	0.467;0.336	T	0.31475	-0.9942	10	0.31617	T	0.26	.	13.627	0.62170	0.0:0.0:1.0:0.0	.	1874;1876	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	L	1876;267;1874	ENSP00000410522:S1876L;ENSP00000366475:S1874L	ENSP00000366473:S267L	S	-	2	0	ATG2A	64419217	1.000000	0.71417	0.103000	0.21229	0.389000	0.30415	9.096000	0.94182	2.144000	0.66660	0.561000	0.74099	TCG		0.677	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		65	323	0	0	0	1	0	65	323				
CXADRP3	440224	broad.mit.edu	37	18	14478910	14478910	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14478910C>T	ENST00000581457.1	-	0	998					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		TCACTTTGCACTGATCTGTGC	0.373																																						ENST00000581457.1																			0																																																			0							g.chr18:14478910C>T			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478910C>T								NR_024076.1						0	998	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.373	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		32	160	0	0	0	1	0	32	160				
FCGR1A	2209	broad.mit.edu	37	1	149759933	149759933	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149759933C>A	ENST00000369168.4	+	4	373	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	107	Ig-like C2-type 2.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGGCTACTACTGCAGGTCTC	0.483																																						ENST00000369168.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(319-321)Ctg>Atg		Fc fragment of IgG, high affinity Ia, receptor (CD64)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						85.0	88.0	87.0					1																	149759933		2203	4299	6502	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149759933C>A	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.319C>A	1.37:g.149759933C>A	ENSP00000358165:p.Leu107Met					HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	p.L107M	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN			4	373	+	Breast(34;0.0124)|all_hematologic(923;0.127)		107			Ig-like C2-type 2.		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.319C>A	CCDS933.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827463	0.32329	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.21361	2.01;2.01	4.1	3.18	0.36537	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000256	T	0.39091	0.1065	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44097	-0.9350	10	0.87932	D	0	.	8.4097	0.32636	0.0:0.8849:0.0:0.1151	.	107	P12314	FCGR1_HUMAN	M	15;107	ENSP00000394279:L15M;ENSP00000358165:L107M	ENSP00000358165:L107M	L	+	1	2	FCGR1A	148026557	0.994000	0.37717	0.851000	0.33527	0.208000	0.24298	3.516000	0.53436	1.015000	0.39444	0.514000	0.50259	CTG		0.483	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		43	507	1	0	6.83704e-37	1	8.1978e-37	43	507				
VWA3B	200403	broad.mit.edu	37	2	98928393	98928393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98928393C>T	ENST00000477737.1	+	27	3837	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1211										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAAGAGGCCCGCCAAGCAGC	0.642																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3631-3633)ccC>ccT		von Willebrand factor A domain containing 3B							10.0	16.0	14.0					2																	98928393		1852	4076	5928	SO:0001819	synonymous_variant	200403							g.chr2:98928393C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3633C>T	2.37:g.98928393C>T						VWA3B_ENST00000490947.2_3'UTR	p.P1211P	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			27	3837	+			1211					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.3633C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	1.014	-0.687052	0.03328	.	.	ENSG00000168658	ENST00000473149	.	.	.	3.89	-6.28	0.02020	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	13.2536	0.60066	0.0:0.1782:0.0:0.8218	.	.	.	.	C	622	.	.	R	+	1	0	VWA3B	98294825	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	-1.161000	0.03144	-1.552000	0.01704	-0.339000	0.08088	CGC		0.642	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		31	58	0	0	0	1	0	31	58				
CAPS2	84698	broad.mit.edu	37	12	75692696	75692696	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75692696T>C	ENST00000409445.3	-	11	1158	c.962A>G	c.(961-963)gAc>gGc	p.D321G	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000393284.3_Missense_Mutation_p.D89G|CAPS2_ENST00000409799.1_Intron|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409004.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	321							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGGGATTGGTCATGAGTGAA	0.343																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(265-267)gAc>gGc		calcyphosine 2							88.0	86.0	87.0					12																	75692696		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75692696T>C	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.962A>G	12.37:g.75692696T>C	ENSP00000386959:p.Asp321Gly					CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409445.3_Missense_Mutation_p.D321G	p.D89G			Q9BXY5	CAYP2_HUMAN			10	867	-			321					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.266A>G	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881570	0.72294	.	.	ENSG00000180881	ENST00000409445;ENST00000393284	T;T	0.51574	0.7;1.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68621	0.959;0.827	T	0.74386	-0.3682	10	0.66056	D	0.02	-11.7444	15.8224	0.78667	0.0:0.0:0.0:1.0	.	89;321	Q9BXY5-2;Q9BXY5	.;CAYP2_HUMAN	G	321;89	ENSP00000386959:D321G;ENSP00000376963:D89G	ENSP00000376963:D89G	D	-	2	0	CAPS2	73978963	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	6.064000	0.71169	2.149000	0.67028	0.519000	0.50382	GAC		0.343	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			44	195	0	0	0	1	0	44	195				
ATP2C2	9914	broad.mit.edu	37	16	84442094	84442094	+	Silent	SNP	C	C	T	rs199924990		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84442094C>T	ENST00000262429.4	+	4	500	c.411C>T	c.(409-411)atC>atT	p.I137I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.I137I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	137					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCGTCAGCATCGCCACGGTGA	0.537																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(409-411)atC>atT		ATPase, Ca++ transporting, type 2C, member 2							42.0	44.0	43.0					16																	84442094		2094	4226	6320	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84442094C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.411C>T	16.37:g.84442094C>T						ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.I137I	p.I137I			O75185	AT2C2_HUMAN			4	500	+			137					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.411C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	2.682	-0.275063	0.05679	.	.	ENSG00000064270	ENST00000420010	.	.	.	4.7	2.75	0.32379	.	.	.	.	.	T	0.46171	0.1379	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39313	-0.9620	7	0.87932	D	0	.	6.9582	0.24583	0.0:0.7117:0.0:0.2883	.	7	F8WAA5	.	L	7	.	ENSP00000393378:S7L	S	+	2	0	ATP2C2	82999595	0.464000	0.25807	0.948000	0.38648	0.075000	0.17131	0.355000	0.20163	0.431000	0.26258	-0.362000	0.07510	TCG		0.537	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		54	159	0	0	0	1	0	54	159				
SNRPN	6638	broad.mit.edu	37	15	25221477	25221477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25221477C>T	ENST00000400100.1	+	9	1071	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000444203.2_Missense_Mutation_p.R65C|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	61					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.R61C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAACCAGAGCGTGAAGAAAA	0.428									Prader-Willi syndrome																													ENST00000444203.2																			1	Substitution - Missense(1)	p.R61C(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(193-195)Cgt>Tgt		small nuclear ribonucleoprotein polypeptide N							87.0	91.0	89.0					15																	25221477		1900	4118	6018	SO:0001583	missense	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25221477C>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.181C>T	15.37:g.25221477C>T	ENSP00000382972:p.Arg61Cys					SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNRPN_ENST00000400100.1_Missense_Mutation_p.R61C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C	p.R65C			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	4	1232	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	61					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.193C>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885805	0.51908	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.21	1.22	0.21188	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.137297	0.48767	D	0.000174	T	0.47358	0.1441	M	0.88979	2.995	0.80722	D	1	P;P	0.34997	0.479;0.479	B;B	0.32677	0.15;0.15	T	0.45716	-0.9242	10	0.62326	D	0.03	-1.3672	5.3002	0.15773	0.1637:0.651:0.0:0.1853	.	65;61	B3KVR1;P63162	.;RSMN_HUMAN	C	61;61;61;65;61;65	ENSP00000382972:R61C;ENSP00000382970:R61C;ENSP00000382969:R61C;ENSP00000452342:R65C;ENSP00000375105:R61C;ENSP00000408767:R65C	ENSP00000375105:R61C	R	+	1	0	SNRPN	22772570	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	4.028000	0.57246	0.296000	0.22592	0.591000	0.81541	CGT		0.428	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		45	284	0	0	0	1	0	45	284				
BCS1L	617	broad.mit.edu	37	2	219525943	219525943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525943G>A	ENST00000431802.1	+	2	932	c.233G>A	c.(232-234)aGt>aAt	p.S78N	BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N|BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	78			S -> G (in GRACILE; dbSNP:rs28937590). {ECO:0000269|PubMed:12215968, ECO:0000269|PubMed:17314340}.		mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCAGTGTCGAGACT	0.532																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(232-234)aGt>aAt		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							139.0	140.0	140.0					2																	219525943		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525943G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.233G>A	2.37:g.219525943G>A	ENSP00000413908:p.Ser78Asn					BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N	p.S78N			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	932	+		Renal(207;0.0474)	78		S -> G (in GRACILE; dbSNP:rs28937590).			B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.233G>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195845	0.94960	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.46	5.46	0.80206	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.85777	2.775	0.80722	D	1	P	0.50443	0.935	P	0.53760	0.734	D	0.97782	1.0233	10	0.51188	T	0.08	-25.7679	19.3096	0.94182	0.0:0.0:1.0:0.0	.	78	Q9Y276	BCS1_HUMAN	N	78	ENSP00000398957:S78N;ENSP00000395440:S78N;ENSP00000352219:S78N;ENSP00000375957:S78N;ENSP00000375958:S78N;ENSP00000397293:S78N;ENSP00000375959:S78N;ENSP00000406494:S78N;ENSP00000404999:S78N;ENSP00000413908:S78N	ENSP00000352219:S78N	S	+	2	0	BCS1L	219234187	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.845000	0.99498	2.542000	0.85734	0.655000	0.94253	AGT		0.532	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		50	777	0	0	0	1	0	50	777				
DTX1	1840	broad.mit.edu	37	12	113534527	113534527	+	Missense_Mutation	SNP	G	G	A	rs370481380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113534527G>A	ENST00000257600.3	+	9	2149	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	549					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R549Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGGTGCTGCGGCTGCTCATC	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16565	0.0		0.0	False		,,,				2504	0.0					ENST00000257600.3																			1	Substitution - Missense(1)	p.R549Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1645-1647)cGg>cAg		deltex homolog 1 (Drosophila)		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	45.0	30.0	35.0		1646	4.0	0.4	12		35	0,8598		0,0,4299	no	missense	DTX1	NM_004416.2	43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	549/621	113534527	2,13002	2203	4299	6502	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113534527G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1646G>A	12.37:g.113534527G>A	ENSP00000257600:p.Arg549Gln					DTX1_ENST00000547974.1_3'UTR	p.R549Q	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			9	2149	+			549					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1646G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700355	0.48307	4.54E-4	0.0	ENSG00000135144	ENST00000257600	T	0.23754	1.89	4.86	3.97	0.46021	.	0.066614	0.64402	D	0.000018	T	0.21631	0.0521	L	0.43923	1.385	0.38129	D	0.938091	B	0.22480	0.07	B	0.23716	0.048	T	0.07462	-1.0771	10	0.45353	T	0.12	1.3252	9.057	0.36412	0.1793:0.0:0.8207:0.0	.	549	Q86Y01	DTX1_HUMAN	Q	549	ENSP00000257600:R549Q	ENSP00000257600:R549Q	R	+	2	0	DTX1	112018910	1.000000	0.71417	0.448000	0.26945	0.967000	0.64934	4.614000	0.61183	1.036000	0.39998	0.462000	0.41574	CGG		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			6	114	0	0	0	1	0	6	114				
ANKRD11	29123	broad.mit.edu	37	16	89346643	89346643	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346643G>T	ENST00000301030.4	-	9	6767	c.6307C>A	c.(6307-6309)Ctg>Atg	p.L2103M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2103	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCCGTCCAGGAAGCTATTT	0.716																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(6307-6309)Ctg>Atg		ankyrin repeat domain 11							8.0	11.0	10.0					16																	89346643		1962	3938	5900	SO:0001583	missense	29123					nucleus		g.chr16:89346643G>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6307C>A	16.37:g.89346643G>T	ENSP00000301030:p.Leu2103Met					ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6767	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2103			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.6307C>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.969239	0.34754	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39056	1.1;1.1	5.29	3.06	0.35304	.	0.510157	0.17790	N	0.161903	T	0.20373	0.0490	N	0.19112	0.55	0.80722	D	1	B	0.30406	0.278	B	0.21360	0.034	T	0.10989	-1.0606	10	0.33141	T	0.24	.	3.321	0.07050	0.1492:0.0:0.3929:0.4579	.	2103	Q6UB99	ANR11_HUMAN	M	2103	ENSP00000301030:L2103M;ENSP00000367581:L2103M	ENSP00000301030:L2103M	L	-	1	2	ANKRD11	87874144	0.995000	0.38212	1.000000	0.80357	0.343000	0.28985	0.831000	0.27476	2.475000	0.83589	0.450000	0.29827	CTG		0.716	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		25	184	1	0	3.83957e-06	1	3.94984e-06	25	184				
RNF39	80352	broad.mit.edu	37	6	30039014	30039014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30039014G>A	ENST00000244360.6	-	4	1234	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	379	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										AGCGGCCGTCGTAGAAGGCCA	0.721																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(1135-1137)taC>taT		ring finger protein 39							14.0	11.0	12.0					6																	30039014		1494	2681	4175	SO:0001819	synonymous_variant	80352					cytoplasm	zinc ion binding	g.chr6:30039014G>A	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.1137C>T	6.37:g.30039014G>A						RNF39_ENST00000376751.3_Intron	p.Y379Y	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			4	1234	-			379			B30.2/SPRY.		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Silent	SNP	ENST00000244360.6	37	c.1137C>T	CCDS4673.1																																																																																				0.721	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		13	95	0	0	0	1	0	13	95				
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	C	T	rs369236488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		16742	0.001		0.0	False		,,,				2504	0.0					ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(1039-1041)ccG>ccA		mohawk homeobox		C	,	3,4403	6.2+/-15.9	0,3,2200	172.0	151.0	158.0		1041,1041	-11.2	0.0	10		158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MKX	NM_001242702.1,NM_173576.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	347/353,347/353	27964176	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964176C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.1041G>A	10.37:g.27964176C>T						MKX_ENST00000419761.1_Silent_p.P347P	p.P347P			Q8IYA7	MKX_HUMAN			7	1473	-			347					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.1041G>A	CCDS7156.1																																																																																				0.463	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		86	459	0	0	0	1	0	86	459				
TMEM54	113452	broad.mit.edu	37	1	33360427	33360427	+	Missense_Mutation	SNP	G	G	T	rs527445029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33360427G>T	ENST00000373463.3	-	6	767	c.648C>A	c.(646-648)agC>agA	p.S216R	TMEM54_ENST00000475208.1_5'Flank|TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	216						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGCTCAGAGCTGGTGCAGC	0.627																																						ENST00000373463.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.(646-648)agC>agA		transmembrane protein 54							69.0	67.0	68.0					1																	33360427		2203	4300	6503	SO:0001583	missense	113452					integral to membrane		g.chr1:33360427G>T		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.648C>A	1.37:g.33360427G>T	ENSP00000362562:p.Ser216Arg					TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R	p.S216R	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN			6	767	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	216					Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	c.648C>A	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693879	0.30052	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T	0.49139	0.79	4.83	0.694	0.18062	.	0.992833	0.08193	N	0.983470	T	0.37785	0.1016	N	0.08118	0	0.09310	N	1	D;B;D	0.76494	0.999;0.001;0.998	D;B;D	0.83275	0.996;0.002;0.991	T	0.34054	-0.9844	10	0.02654	T	1	.	4.139	0.10184	0.2911:0.1732:0.5357:0.0	.	196;163;216	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	R	216;163	ENSP00000362562:S216R	ENSP00000328630:S163R	S	-	3	2	TMEM54	33133014	0.000000	0.05858	0.010000	0.14722	0.208000	0.24298	0.445000	0.21677	0.188000	0.20168	-0.142000	0.14014	AGC		0.627	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		82	318	1	0	2.38877e-28	1	2.77873e-28	82	318				
MAGOHB	55110	broad.mit.edu	37	12	10762505	10762505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10762505C>A	ENST00000320756.2	-	3	279	c.189G>T	c.(187-189)aaG>aaT	p.K63N	MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	63					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CAATAATTCTCTTCAGTTCTT	0.373																																						ENST00000320756.2																			0				breast(2)|large_intestine(2)	4						c.(187-189)aaG>aaT		mago-nashi homolog B (Drosophila)							117.0	117.0	117.0					12																	10762505		2203	4300	6503	SO:0001583	missense	55110				mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding	g.chr12:10762505C>A		CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.189G>T	12.37:g.10762505C>A	ENSP00000319240:p.Lys63Asn					MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N	p.K63N	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN			3	279	-			63						Missense_Mutation	SNP	ENST00000320756.2	37	c.189G>T	CCDS8628.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713933	0.68730	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	2.8	0.32819	.	0.000000	0.85682	U	0.000000	T	0.71151	0.3306	M	0.93678	3.445	0.80722	D	1	P	0.40180	0.705	B	0.44108	0.441	T	0.73490	-0.3966	9	0.87932	D	0	.	6.4197	0.21736	0.0:0.7092:0.0:0.2908	.	63	Q96A72	MGN2_HUMAN	N	17;63	.	ENSP00000319240:K63N	K	-	3	2	MAGOHB	10653772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.781000	0.26774	0.879000	0.35944	0.591000	0.81541	AAG		0.373	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048		21	131	1	0	9.57634e-11	1	1.01752e-10	21	131				
FCGBP	8857	broad.mit.edu	37	19	40424170	40424170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40424170G>A	ENST00000221347.6	-	4	2040	c.2033C>T	c.(2032-2034)aCc>aTc	p.T678I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	678	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCGAGCTTGGTCAGCATGCC	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2032-2034)aCc>aTc		Fc fragment of IgG binding protein							198.0	186.0	190.0					19																	40424170		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40424170G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2033C>T	19.37:g.40424170G>A	ENSP00000221347:p.Thr678Ile						p.T678I	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		4	2040	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		678			VWFD 1.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2033C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987085	0.35036	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	5.34	4.22	0.49857	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.350163	0.20395	N	0.093180	T	0.77532	0.4144	L	0.57130	1.785	0.27972	N	0.936382	P	0.37370	0.592	B	0.41174	0.349	T	0.74426	-0.3669	10	0.51188	T	0.08	.	15.8228	0.78673	0.0:0.187:0.813:0.0	.	678	Q9Y6R7	FCGBP_HUMAN	I	678	ENSP00000221347:T678I	ENSP00000221347:T678I	T	-	2	0	FCGBP	45116010	0.003000	0.15002	0.951000	0.38953	0.604000	0.37047	0.458000	0.21892	2.506000	0.84524	0.650000	0.86243	ACC		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		269	1171	0	0	0	1	0	269	1171				
RIPK3	11035	broad.mit.edu	37	14	24808519	24808519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24808519G>T	ENST00000216274.5	-	3	391	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GACCTCCCTGGATATCGCCTT	0.587																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(172-174)tCc>tAc		receptor-interacting serine-threonine kinase 3							88.0	77.0	80.0					14																	24808519		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808519G>T	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.173C>A	14.37:g.24808519G>T	ENSP00000216274:p.Ser58Tyr					RIPK3_ENST00000554338.1_5'UTR	p.S58Y	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	3	391	-			58			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.173C>A	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728327	0.48833	.	.	ENSG00000129465	ENST00000216274	T	0.66815	-0.23	4.69	2.85	0.33270	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.592034	0.15399	N	0.264383	T	0.67924	0.2945	L	0.48260	1.515	0.09310	N	1	D;D	0.76494	0.994;0.999	P;D	0.83275	0.879;0.996	T	0.57573	-0.7788	10	0.02654	T	1	-5.91	6.448	0.21887	0.099:0.1844:0.7166:0.0	.	58;58	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	Y	58	ENSP00000216274:S58Y	ENSP00000216274:S58Y	S	-	2	0	RIPK3	23878359	0.016000	0.18221	0.040000	0.18447	0.098000	0.18820	0.190000	0.17057	0.701000	0.31803	-0.304000	0.09214	TCC		0.587	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		106	439	1	0	5.50663e-37	1	6.60513e-37	106	439				
PRPF3	9129	broad.mit.edu	37	1	150307598	150307598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150307598C>T	ENST00000324862.6	+	7	1086	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.S258S	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	307					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACATGGAATCCAATACCTTTT	0.463																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(919-921)tcC>tcT		pre-mRNA processing factor 3							91.0	85.0	87.0					1																	150307598		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150307598C>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.921C>T	1.37:g.150307598C>T						PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.S258S	p.S307S	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	7	1086	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		307					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.921C>T	CCDS951.1																																																																																				0.463	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		19	248	0	0	0	1	0	19	248				
DNAH10	196385	broad.mit.edu	37	12	124256171	124256171	+	Missense_Mutation	SNP	G	G	A	rs374747661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124256171G>A	ENST00000409039.3	+	3	164	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	47	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGAGAACCGAATCTCTAGG	0.408																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(139-141)Gaa>Aaa		dynein, axonemal, heavy chain 10		G	LYS/GLU	1,3763		0,1,1881	96.0	86.0	89.0		139	1.7	0.0	12		89	0,8200		0,0,4100	no	missense	DNAH10	NM_207437.3	56	0,1,5981	AA,AG,GG		0.0,0.0266,0.0084	benign	47/4472	124256171	1,11963	1882	4100	5982	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124256171G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.139G>A	12.37:g.124256171G>A	ENSP00000386770:p.Glu47Lys						p.E47K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	3	164	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		47			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.139G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101325	0.20632	2.66E-4	0.0	ENSG00000197653	ENST00000409039	T	0.22134	1.97	3.85	1.7	0.24286	.	.	.	.	.	T	0.10680	0.0261	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.34279	-0.9835	9	0.25106	T	0.35	.	2.7374	0.05244	0.2007:0.0:0.5023:0.297	.	47	Q8IVF4	DYH10_HUMAN	K	47	ENSP00000386770:E47K	ENSP00000386770:E47K	E	+	1	0	DNAH10	122822124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.289000	0.02780	0.216000	0.20781	0.591000	0.81541	GAA		0.408	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			12	73	0	0	0	1	0	12	73				
SRGAP3	9901	broad.mit.edu	37	3	9055047	9055047	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9055047G>A	ENST00000383836.3	-	17	2519	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	698					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTAGCTCCCGGGGGCTGGGG	0.473			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2092-2094)Cgg>Tgg		SLIT-ROBO Rho GTPase activating protein 3							80.0	68.0	72.0					3																	9055047		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055047G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2092C>T	3.37:g.9055047G>A	ENSP00000373347:p.Arg698Trp					SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	p.R698W	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2519	-			698					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2092C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002577	0.74932	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.26518	1.73;2.15	5.7	3.73	0.42828	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.68353	0.942;0.957	T	0.23154	-1.0196	10	0.72032	D	0.01	.	13.3197	0.60426	0.0:0.0:0.6146:0.3854	.	674;698	O43295-2;O43295	.;SRGP2_HUMAN	W	698;674	ENSP00000373347:R698W;ENSP00000353587:R674W	ENSP00000353587:R674W	R	-	1	2	SRGAP3	9030047	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.825000	0.48096	1.384000	0.46424	0.655000	0.94253	CGG		0.473	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			55	251	0	0	0	1	0	55	251				
ANK3	288	broad.mit.edu	37	10	61848050	61848050	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848050T>G	ENST00000280772.2	-	29	3586	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1132	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAAAATACTGGGGGAAATC	0.443																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3394-3396)cAg>cCg		ankyrin 3, node of Ranvier (ankyrin G)							115.0	117.0	116.0					10																	61848050		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61848050T>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3395A>C	10.37:g.61848050T>G	ENSP00000280772:p.Gln1132Pro					ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P	p.Q1132P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3586	-			1132					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3395A>C	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048615|4.048615	0.75846|0.75846	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348|ENST00000467420	T;T;T;T|.	0.74842|.	-0.21;-0.88;-0.88;-0.88|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.40064|.	N|.	0.001198|.	T|T	0.79986|0.79986	0.4541|0.4541	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.76494|.	0.994;0.998;0.999;0.999;0.998;0.997;0.996|.	P;D;D;D;D;D;D|.	0.79784|.	0.885;0.99;0.993;0.979;0.986;0.947;0.979|.	T|T	0.81678|0.81678	-0.0824|-0.0824	10|5	0.87932|.	D|.	0|.	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1133;266;665;1126;1132;367;266|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	P|R	1132;1126;266;266;1133;1112;367;767;767;265;665|190	ENSP00000280772:Q1132P;ENSP00000362933:Q1126P;ENSP00000347436:Q266P;ENSP00000425236:Q1133P|.	ENSP00000280772:Q1132P|.	Q|S	-|-	2|1	0|0	ANK3|ANK3	61518056|61518056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.676000|7.676000	0.84012|0.84012	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		103	431	0	0	0	1	0	103	431				
GNE	10020	broad.mit.edu	37	9	36229026	36229026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36229026C>T	ENST00000539815.1	-	5	1102	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	GNE_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000377902.5_Silent_p.Q354Q|GNE_ENST00000396594.3_Silent_p.Q385Q|GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000447283.2_Silent_p.Q354Q			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	354					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACCAAGGGTACTGTTTACCAA	0.403																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1153-1155)caG>caA		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							179.0	178.0	178.0					9																	36229026		2203	4300	6503	SO:0001819	synonymous_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36229026C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1062G>A	9.37:g.36229026C>T						GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000447283.2_Silent_p.Q354Q|GNE_ENST00000539815.1_Silent_p.Q354Q|GNE_ENST00000377902.5_Silent_p.Q354Q	p.Q385Q	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		6	1266	-			354					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	ENST00000539815.1	37	c.1155G>A	CCDS6602.1																																																																																				0.403	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		99	446	0	0	0	1	0	99	446				
SLC6A13	6540	broad.mit.edu	37	12	330167	330167	+	Missense_Mutation	SNP	C	C	T	rs61738753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:330167C>T	ENST00000343164.4	-	15	1808	c.1756G>A	c.(1756-1758)Gcc>Acc	p.A586T	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.A494T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	586					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTGGGGGTGGCGGGAGCCGAG	0.657													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17290	0.0		0.0	False		,,,				2504	0.0					ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1756-1758)Gcc>Acc		solute carrier family 6 (neurotransmitter transporter), member 13		C	THR/ALA,THR/ALA	27,4379	32.6+/-62.9	1,25,2177	54.0	50.0	51.0		1480,1756	2.1	0.0	12	dbSNP_129	51	0,8600		0,0,4300	yes	missense,missense	SLC6A13	NM_001190997.2,NM_016615.4	58,58	1,25,6477	TT,TC,CC		0.0,0.6128,0.2076	benign,benign	494/511,586/603	330167	27,12979	2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330167C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1756G>A	12.37:g.330167C>T	ENSP00000339260:p.Ala586Thr					SLC6A13_ENST00000445055.2_Missense_Mutation_p.A494T	p.A586T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		15	1808	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		586					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1756G>A	CCDS8502.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	9.783	1.175747	0.21704	0.006128	0.0	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73575	-0.73;-0.76	4.15	2.12	0.27331	.	2.260890	0.02053	N	0.050198	T	0.45478	0.1344	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43426	-0.9392	10	0.21540	T	0.41	.	3.5166	0.07727	0.2745:0.5018:0.0:0.2237	.	494;565;586	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	T	494;565;586	ENSP00000407104:A494T;ENSP00000339260:A586T	ENSP00000318097:A565T	A	-	1	0	SLC6A13	200428	0.845000	0.29573	0.030000	0.17652	0.553000	0.35397	1.064000	0.30579	0.980000	0.38523	0.448000	0.29417	GCC		0.657	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		15	155	0	0	0	1	0	15	155				
APOH	350	broad.mit.edu	37	17	64216739	64216739	+	Silent	SNP	C	C	T	rs367862167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64216739C>T	ENST00000205948.6	-	5	574	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	179	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.A179A(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTCCAAACATCGCATGTTGTG	0.418																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			1	Substitution - coding silent(1)	p.A179A(1)	large_intestine(1)	central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(535-537)gcG>gcA		apolipoprotein H (beta-2-glycoprotein I)		C		1,4405	2.1+/-5.4	0,1,2202	173.0	157.0	163.0		537	-10.7	0.0	17		163	0,8600		0,0,4300	no	coding-synonymous	APOH	NM_000042.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		179/346	64216739	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64216739C>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.537G>A	17.37:g.64216739C>T							p.A179A	NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		5	574	-			179			Sushi 3.		B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	37	c.537G>A	CCDS11663.1																																																																																				0.418	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		70	331	0	0	0	1	0	70	331				
JAKMIP3	282973	broad.mit.edu	37	10	133955529	133955529	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133955529C>T	ENST00000298622.4	+	10	1717	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	527						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAGGGACGCTGGACGCAGA	0.657																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1579-1581)Ctg>Ttg		Janus kinase and microtubule interacting protein 3							112.0	73.0	86.0					10																	133955529		2202	4297	6499	SO:0001819	synonymous_variant	282973							g.chr10:133955529C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1579C>T	10.37:g.133955529C>T							p.L527L	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	10	1717	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.1579C>T	CCDS44494.1																																																																																				0.657	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		8	44	0	0	0	1	0	8	44				
ZFPM2	23414	broad.mit.edu	37	8	106814456	106814456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:106814456C>T	ENST00000407775.2	+	8	2396	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	716					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACGCCACGACCCTCCACTGAA	0.502																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2146-2148)Cct>Tct		zinc finger protein, FOG family member 2							55.0	53.0	54.0					8																	106814456		2077	4205	6282	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814456C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2146C>T	8.37:g.106814456C>T	ENSP00000384179:p.Pro716Ser					ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S|ZFPM2_ENST00000522296.1_3'UTR	p.P716S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2396	+			716					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2146C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422952	0.83559	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.25749	1.78;2.29;2.29;3.54	5.72	5.72	0.89469	.	0.046322	0.85682	D	0.000000	T	0.53270	0.1786	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.47522	-0.9111	10	0.46703	T	0.11	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	716	Q8WW38	FOG2_HUMAN	S	716;584;584;447	ENSP00000384179:P716S;ENSP00000430757:P584S;ENSP00000428720:P584S;ENSP00000367733:P447S	ENSP00000367733:P447S	P	+	1	0	ZFPM2	106883632	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	CCT		0.502	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			36	126	0	0	0	1	0	36	126				
SAMD11	148398	broad.mit.edu	37	1	879470	879470	+	Missense_Mutation	SNP	G	G	T	rs575654453		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:879470G>T	ENST00000342066.3	+	14	2066	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	661					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTCACCCAAGCAGGAGAATG	0.657																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1981-1983)aaG>aaT		sterile alpha motif domain containing 11							55.0	63.0	60.0					1																	879470		2203	4300	6503	SO:0001583	missense	148398					nucleus		g.chr1:879470G>T	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1983G>T	1.37:g.879470G>T	ENSP00000342313:p.Lys661Asn						p.K661N	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	14	2066	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	661					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.1983G>T	CCDS2.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.737742|2.737742	0.49045|0.49045	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000342066|ENST00000341065;ENST00000455979	.|.	.|.	.|.	5.05|5.05	-2.44|-2.44	0.06502|0.06502	.|.	0.060271|.	0.64402|.	D|.	0.000004|.	T|T	0.65974|0.65974	0.2743|0.2743	M|M	0.66939|0.66939	2.045|2.045	0.51482|0.51482	D|D	0.99992|0.99992	D;D|.	0.63046|.	0.992;0.986|.	P;P|.	0.50659|.	0.647;0.541|.	T|T	0.65240|0.65240	-0.6216|-0.6216	9|5	0.87932|.	D|.	0|.	-16.797|-16.797	11.726|11.726	0.51710|0.51710	0.4417:0.0:0.5583:0.0|0.4417:0.0:0.5583:0.0	.|.	645;661|.	Q96NU1-1;Q96NU1|.	.;SAM11_HUMAN|.	N|I	661|569;521	.|.	ENSP00000342313:K661N|.	K|S	+|+	3|2	2|0	SAMD11|SAMD11	869333|869333	1.000000|1.000000	0.71417|0.71417	0.218000|0.218000	0.23776|0.23776	0.500000|0.500000	0.33767|0.33767	1.943000|1.943000	0.40253|0.40253	-0.315000|-0.315000	0.08703|0.08703	-0.300000|-0.300000	0.09419|0.09419	AAG|AGC		0.657	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		113	479	1	0	2.96211e-45	1	3.63119e-45	113	479				
MXRA5	25878	broad.mit.edu	37	X	3241106	3241106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3241106G>T	ENST00000217939.6	-	5	2774	c.2620C>A	c.(2620-2622)Ctt>Att	p.L874I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	874						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTCAACAAGAATAACTCCA	0.473																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2620-2622)Ctt>Att		matrix-remodelling associated 5							101.0	86.0	91.0					X																	3241106		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241106G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2620C>A	X.37:g.3241106G>T	ENSP00000217939:p.Leu874Ile						p.L874I	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2774	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	874					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2620C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	8.253	0.809339	0.16537	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.63	-2.77	0.05877	.	2.650130	0.01890	U	0.038484	T	0.40839	0.1133	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.13282	-1.0515	10	0.23891	T	0.37	.	2.7632	0.05313	0.0895:0.2756:0.3498:0.2851	.	874	Q9NR99	MXRA5_HUMAN	I	874	ENSP00000217939:L874I	ENSP00000217939:L874I	L	-	1	0	MXRA5	3251106	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.049000	0.03514	-0.353000	0.08224	-0.353000	0.07706	CTT		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		20	393	1	0	5.26018e-13	1	5.6673e-13	20	393				
SCN10A	6336	broad.mit.edu	37	3	38768102	38768102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768102C>A	ENST00000449082.2	-	16	3081	c.3082G>T	c.(3082-3084)Gga>Tga	p.G1028*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1028					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTTACCTGTCCTTTGGGGATC	0.542																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3082-3084)Gga>Tga		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						72.0	62.0	66.0					3																	38768102		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768102C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3082G>T	3.37:g.38768102C>A	ENSP00000390600:p.Gly1028*						p.G1028*	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	3081	-			1028					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.3082G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	38	6.820651	0.97861	.	.	ENSG00000185313	ENST00000449082	.	.	.	3.84	0.00718	0.14070	.	5.998850	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	7.2493	0.26140	0.0:0.4287:0.0:0.5713	.	.	.	.	X	1028	.	ENSP00000390600:G1028X	G	-	1	0	SCN10A	38743106	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	0.116000	0.15561	-0.014000	0.14175	0.655000	0.94253	GGA		0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		53	214	1	0	3.76525e-18	1	4.17087e-18	53	214				
NELL2	4753	broad.mit.edu	37	12	45173747	45173747	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45173747C>T	ENST00000429094.2	-	4	898	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000437801.2_Missense_Mutation_p.G182S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000551601.1_Missense_Mutation_p.G131S|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	132	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CGGTGACTGCCTGAGCGGTAA	0.468																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(394-396)Ggc>Agc		NEL-like 2 (chicken)							171.0	153.0	159.0					12																	45173747		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173747C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.394G>A	12.37:g.45173747C>T	ENSP00000390680:p.Gly132Ser					NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000551601.1_Missense_Mutation_p.G131S|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.G182S	p.G132S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	898	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	132			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.394G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302698	0.60195	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.5	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.331335	0.34676	N	0.003768	T	0.70002	0.3174	N	0.17082	0.46	0.43740	D	0.996233	B;B;B;B;B;B	0.17038	0.016;0.02;0.016;0.006;0.005;0.011	B;B;B;B;B;B	0.23018	0.043;0.023;0.017;0.029;0.018;0.014	T	0.63541	-0.6614	10	0.25751	T	0.34	-15.9435	12.2547	0.54617	0.0:0.8608:0.0:0.1392	.	155;182;131;132;132;131	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	131;132;131;132;131;155;182;131;132;129	ENSP00000378866:G131S;ENSP00000390680:G132S;ENSP00000449332:G131S;ENSP00000394612:G132S;ENSP00000447927:G131S;ENSP00000327988:G155S;ENSP00000416341:G182S;ENSP00000447085:G132S;ENSP00000447384:G129S	ENSP00000327988:G155S	G	-	1	0	NELL2	43460014	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.002000	0.40835	1.327000	0.45338	0.655000	0.94253	GGC		0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		113	529	0	0	0	1	0	113	529				
HRC	3270	broad.mit.edu	37	19	49656971	49656971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	508					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1522-1524)ggC>ggT		histidine rich calcium binding protein							107.0	86.0	93.0					19																	49656971		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656971G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1524C>T	19.37:g.49656971G>A						HRC_ENST00000595625.1_Silent_p.G508G	p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1710	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	508					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1524C>T	CCDS12759.1																																																																																				0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		52	217	0	0	0	1	0	52	217				
ZNF211	10520	broad.mit.edu	37	19	58152484	58152484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58152484G>A	ENST00000347302.3	+	3	809	c.630G>A	c.(628-630)gaG>gaA	p.E210E	ZNF211_ENST00000299871.5_Silent_p.E275E|ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000544273.1_Silent_p.E222E|ZNF211_ENST00000240731.4_Silent_p.E223E	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACAGGGGAGAAGCCAAATA	0.473																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(664-666)gaG>gaA		zinc finger protein 211							53.0	53.0	53.0					19																	58152484		2203	4300	6503	SO:0001819	synonymous_variant	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152484G>A	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.630G>A	19.37:g.58152484G>A						ZNF211_ENST00000299871.5_Silent_p.E275E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000347302.3_Silent_p.E210E|ZNF211_ENST00000240731.4_Silent_p.E223E	p.E222E			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	993	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	210					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Silent	SNP	ENST00000347302.3	37	c.666G>A	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029395	0.19512	.	.	ENSG00000121417	ENST00000407202	T	0.19806	2.12	3.24	1.01	0.19927	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22941	-1.0202	6	0.54805	T	0.06	.	5.2711	0.15624	0.1047:0.0:0.5413:0.354	.	.	.	.	K	214	ENSP00000384436:E214K	ENSP00000384436:E214K	E	+	1	0	ZNF211	62844296	0.000000	0.05858	0.006000	0.13384	0.702000	0.40608	0.297000	0.19101	0.371000	0.24564	0.591000	0.81541	GAA		0.473	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			56	227	0	0	0	1	0	56	227				
VEZF1	7716	broad.mit.edu	37	17	56058141	56058141	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56058141T>C	ENST00000581208.1	-	4	839	c.799A>G	c.(799-801)Act>Gct	p.T267A	VEZF1_ENST00000584396.1_Missense_Mutation_p.T258A	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	267					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AAGGCAGCAGTGCACGTCTGC	0.448																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(772-774)Act>Gct		vascular endothelial zinc finger 1							87.0	71.0	76.0					17																	56058141		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56058141T>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.799A>G	17.37:g.56058141T>C	ENSP00000462337:p.Thr267Ala					VEZF1_ENST00000581208.1_Missense_Mutation_p.T267A	p.T258A			Q14119	VEZF1_HUMAN			4	860	-			267						Missense_Mutation	SNP	ENST00000581208.1	37	c.772A>G	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525295	0.44969	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.043175	0.85682	D	0.000000	T	0.52125	0.1715	L	0.28274	0.84	0.80722	D	1	B	0.25609	0.13	B	0.24541	0.054	T	0.51220	-0.8733	9	0.56958	D	0.05	-2.6976	16.2214	0.82262	0.0:0.0:0.0:1.0	.	267	Q14119	VEZF1_HUMAN	A	267	.	ENSP00000258963:T267A	T	-	1	0	VEZF1	53413140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.135000	0.64777	2.232000	0.73038	0.523000	0.50628	ACT		0.448	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			6	223	0	0	0	1	0	6	223				
ABCC6	368	broad.mit.edu	37	16	16276333	16276333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16276333G>A	ENST00000205557.7	-	17	2212	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	728	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CAGGGCACAGGCTTCTAGTAC	0.582																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(2182-2184)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							86.0	81.0	82.0					16																	16276333		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16276333G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2183C>T	16.37:g.16276333G>A	ENSP00000205557:p.Ala728Val					ABCC6_ENST00000574094.1_Intron	p.A728V	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	17	2212	-			728			ABC transporter 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.2183C>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136748	0.56936	.	.	ENSG00000091262	ENST00000205557;ENST00000456970	D;D	0.94046	-3.34;-3.34	4.62	4.62	0.57501	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.48767	U	0.000164	D	0.94693	0.8288	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95589	0.8653	10	0.87932	D	0	.	16.2357	0.82371	0.0:0.0:1.0:0.0	.	728	O95255	MRP6_HUMAN	V	728	ENSP00000205557:A728V;ENSP00000405002:A728V	ENSP00000205557:A728V	A	-	2	0	ABCC6	16183834	1.000000	0.71417	0.991000	0.47740	0.049000	0.14656	6.247000	0.72411	2.113000	0.64589	0.491000	0.48974	GCC		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			11	354	0	0	0	1	0	11	354				
C8A	731	broad.mit.edu	37	1	57383318	57383318	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57383318T>G	ENST00000361249.3	+	11	1780	c.1684T>G	c.(1684-1686)Tgt>Ggt	p.C562G		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	562	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGAAGAGAGTGTGACAATCC	0.577																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1684-1686)Tgt>Ggt		complement component 8, alpha polypeptide							68.0	67.0	67.0					1																	57383318		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383318T>G	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1684T>G	1.37:g.57383318T>G	ENSP00000354458:p.Cys562Gly						p.C562G	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			11	1780	+			562			TSP type-1 2.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1684T>G	CCDS606.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547329	0.65311	.	.	ENSG00000157131	ENST00000361249	T	0.25912	1.77	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	H	0.99600	4.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82692	-0.0331	10	0.87932	D	0	-16.2378	13.1014	0.59222	0.0:0.0:0.0:1.0	.	562	P07357	CO8A_HUMAN	G	562	ENSP00000354458:C562G	ENSP00000354458:C562G	C	+	1	0	C8A	57155906	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.767000	0.68850	2.012000	0.59069	0.460000	0.39030	TGT		0.577	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		19	250	0	0	0	1	0	19	250				
ZNF292	23036	broad.mit.edu	37	6	87970601	87970601	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970601A>C	ENST00000369577.3	+	8	7297	c.7254A>C	c.(7252-7254)tcA>tcC	p.S2418S	ZNF292_ENST00000339907.4_Silent_p.S2413S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2418						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATTTACATCACAACACCGAA	0.343																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7252-7254)tcA>tcC		zinc finger protein 292							43.0	40.0	41.0					6																	87970601		1870	4096	5966	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970601A>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7254A>C	6.37:g.87970601A>C						ZNF292_ENST00000339907.4_Silent_p.S2413S	p.S2418S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7297	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2418					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.7254A>C	CCDS47457.1																																																																																				0.343	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		4	77	0	0	0	1	0	4	77				
RNF31	55072	broad.mit.edu	37	14	24619958	24619958	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619958G>T	ENST00000324103.6	+	8	1669	c.1349G>T	c.(1348-1350)aGc>aTc	p.S450I	RNF31_ENST00000382687.3_Missense_Mutation_p.S299I|RNF31_ENST00000559275.1_Missense_Mutation_p.S299I|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	450	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCCTATGCCAGCTCTTTGGAA	0.612																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1348-1350)aGc>aTc		ring finger protein 31							71.0	77.0	75.0					14																	24619958		1882	4102	5984	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619958G>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1349G>T	14.37:g.24619958G>T	ENSP00000315112:p.Ser450Ile					RNF31_ENST00000382687.3_Missense_Mutation_p.S299I|RNF31_ENST00000559275.1_Missense_Mutation_p.S299I	p.S450I	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1669	+			450			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1349G>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102621	0.37145	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.48836	0.8;0.8	5.87	3.0	0.34707	.	0.740640	0.13790	N	0.362573	T	0.41650	0.1168	L	0.56769	1.78	0.32017	N	0.601277	B;P;P	0.38078	0.346;0.483;0.617	B;B;B	0.37144	0.039;0.086;0.242	T	0.50800	-0.8785	10	0.45353	T	0.12	-1.4673	7.1867	0.25803	0.1577:0.1516:0.6907:0.0	.	265;450;299	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	I	450;299	ENSP00000315112:S450I;ENSP00000372134:S299I	ENSP00000315112:S450I	S	+	2	0	RNF31	23689798	0.817000	0.29147	0.997000	0.53966	0.916000	0.54674	0.234000	0.17930	0.792000	0.33850	0.655000	0.94253	AGC		0.612	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		57	608	1	0	6.60958e-23	1	7.49606e-23	57	608				
CDC23	8697	broad.mit.edu	37	5	137525388	137525388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525388G>A	ENST00000394886.2	-	15	1587	c.1557C>T	c.(1555-1557)taC>taT	p.Y519Y		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	519					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTAAAATAGTACTGGGCCA	0.373																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1555-1557)taC>taT		cell division cycle 23							88.0	82.0	84.0					5																	137525388		2203	4300	6503	SO:0001819	synonymous_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137525388G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1557C>T	5.37:g.137525388G>A							p.Y519Y	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		15	1587	-			519					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	c.1557C>T	CCDS4200.2																																																																																				0.373	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			50	234	0	0	0	1	0	50	234				
SYNM	23336	broad.mit.edu	37	15	99666928	99666928	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99666928G>A	ENST00000560674.1	+	3	548	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Splice_Site_p.A312T|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Splice_Site_p.A312T			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	313	Coil 1A.|Interaction with DMD and UTRN.|Rod.				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						TTTTTACAGGGCCTTATTGGA	0.388																																					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.e4-1		synemin, intermediate filament protein							86.0	82.0	83.0					15																	99666928		1836	4097	5933	SO:0001630	splice_region_variant	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.chr15:99666928G>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.78-1G>A	15.37:g.99666928G>A						SYNM_ENST00000328642.7_Splice_Site_p.A312_splice|SYNM_ENST00000560674.1_Splice_Site_p.A27_splice|SYNM_ENST00000561323.1_3'UTR	p.A312_splice	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			4	1054	+			313			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Splice_Site	SNP	ENST00000560674.1	37	c.932_splice		.	.	.	.	.	.	.	.	.	.	G	34	5.325606	0.95708	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.88664	-2.41;-2.41	5.83	5.83	0.93111	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95040	0.8394	.	.	.	0.58432	D	0.999998	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.939	D	0.95146	0.8268	8	0.87932	D	0	.	18.6976	0.91607	0.0:0.0:1.0:0.0	.	313;312	O15061;C9JIE4	SYNEM_HUMAN;.	T	312	ENSP00000336775:A312T;ENSP00000330469:A312T	ENSP00000330469:A312T	A	+	1	0	SYNM	97484451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.831000	0.69330	2.770000	0.95276	0.655000	0.94253	GCC		0.388	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	Missense_Mutation	3	34	0	0	0	1	0	3	34				
GPR123	84435	broad.mit.edu	37	10	134942485	134942485	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942485G>C	ENST00000392607.3	+	7	1589	c.1153G>C	c.(1153-1155)Gcc>Ccc	p.A385P	GPR123_ENST00000607359.1_Missense_Mutation_p.A1104P|GPR123_ENST00000392606.2_Missense_Mutation_p.A288P	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	385					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCGTGCTGCGCCAAGATGCA	0.721																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3310-3312)Gcc>Ccc		G protein-coupled receptor 123							7.0	6.0	6.0					10																	134942485		2088	4118	6206	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942485G>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1153G>C	10.37:g.134942485G>C	ENSP00000376384:p.Ala385Pro					GPR123_ENST00000392607.3_Missense_Mutation_p.A385P|GPR123_ENST00000392606.2_Missense_Mutation_p.A288P	p.A1104P			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3310	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	385					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.3310G>C	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.664190	0.67700	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.04603	3.59	4.42	3.51	0.40186	.	0.205916	0.32503	N	0.006010	T	0.16300	0.0392	M	0.64997	1.995	0.53005	D	0.999969	B;D	0.76494	0.112;0.999	B;D	0.70935	0.064;0.971	T	0.00417	-1.1752	10	0.87932	D	0	-29.5881	11.7426	0.51801	0.0:0.0:0.822:0.178	.	385;1104	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	P	1104;385;289	ENSP00000376384:A385P	ENSP00000357566:A1104P	A	+	1	0	GPR123	134792475	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	6.988000	0.76212	1.202000	0.43218	0.561000	0.74099	GCC		0.721	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			3	27	0	0	0	1	0	3	27				
MLIP	90523	broad.mit.edu	37	6	54095632	54095632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54095632G>A	ENST00000274897.5	+	11	1347	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.G947R|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	412						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTTGCCCCAGGACCCTTCAG	0.512																																						ENST00000502396.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2839-2841)Gga>Aga		muscular LMNA-interacting protein							260.0	229.0	240.0					6																	54095632		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54095632G>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1234G>A	6.37:g.54095632G>A	ENSP00000274897:p.Gly412Arg					MLIP_ENST00000274897.5_Missense_Mutation_p.G412R|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron	p.G947R			Q5VWP3	MLIP_HUMAN			12	2871	+			412					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.2839G>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017688	0.75161	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.28454	1.97;1.61	5.59	5.59	0.84812	.	0.000000	0.41294	D	0.000905	T	0.33089	0.0851	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.22277	-1.0221	10	0.87932	D	0	.	15.1015	0.72279	0.0:0.0:1.0:0.0	.	947;412	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	R	412;947	ENSP00000274897:G412R;ENSP00000426290:G947R	ENSP00000274897:G412R	G	+	1	0	MLIP	54203591	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.200000	0.51051	2.622000	0.88805	0.650000	0.86243	GGA		0.512	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		206	859	0	0	0	1	0	206	859				
PLEC	5339	broad.mit.edu	37	8	144995928	144995928	+	Silent	SNP	G	G	A	rs542710594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995928G>A	ENST00000322810.4	-	32	8641	c.8472C>T	c.(8470-8472)gaC>gaT	p.D2824D	PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000398774.2_Silent_p.D2655D|PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000357649.2_Silent_p.D2691D|PLEC_ENST00000436759.2_Silent_p.D2714D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000354958.2_Silent_p.D2665D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2824	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGTGGCGCACGTCTTCCCGCC	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8470-8472)gaC>gaT		plectin							34.0	37.0	36.0					8																	144995928		2166	4266	6432	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995928G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8472C>T	8.37:g.144995928G>A						PLEC_ENST00000357649.2_Silent_p.D2691D|PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000398774.2_Silent_p.D2655D|PLEC_ENST00000354958.2_Silent_p.D2665D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000436759.2_Silent_p.D2714D	p.D2824D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8641	-			2824			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8472C>T	CCDS43772.1																																																																																				0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		69	304	0	0	0	1	0	69	304				
CLECL1	160365	broad.mit.edu	37	12	9875328	9875328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9875328G>T	ENST00000327839.3	-	2	432	c.398C>A	c.(397-399)gCt>gAt	p.A133D		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	133	C-type lectin; atypical.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						CTTAGTTTCAGCAATCCAGTA	0.358																																						ENST00000327839.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(397-399)gCt>gAt		C-type lectin-like 1							130.0	117.0	121.0					12																	9875328		2203	4300	6503	SO:0001583	missense	160365					integral to membrane|plasma membrane	sugar binding	g.chr12:9875328G>T	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.398C>A	12.37:g.9875328G>T	ENSP00000331766:p.Ala133Asp						p.A133D	NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN			2	432	-			133			C-type lectin; atypical.			Missense_Mutation	SNP	ENST00000327839.3	37	c.398C>A	CCDS8603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.610957|2.610957	0.46631|0.46631	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000327839|ENST00000542530	T|.	0.17213|.	2.29|.	3.15|3.15	2.24|2.24	0.28232|0.28232	C-type lectin fold (1);C-type lectin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.29366|0.29366	-1.0014|-1.0014	8|5	.|.	.|.	.|.	.|.	6.5714|6.5714	0.22541|0.22541	0.1469:0.0:0.8531:0.0|0.1469:0.0:0.8531:0.0	.|.	133|.	Q8IZS7|.	CLCL1_HUMAN|.	D|M	133|85	ENSP00000331766:A133D|.	.|.	A|L	-|-	2|1	0|2	CLECL1|CLECL1	9766595|9766595	0.002000|0.002000	0.14202|0.14202	0.008000|0.008000	0.14137|0.14137	0.240000|0.240000	0.25518|0.25518	0.847000|0.847000	0.27696|0.27696	0.608000|0.608000	0.30000|0.30000	0.596000|0.596000	0.82720|0.82720	GCT|CTG		0.358	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		8	305	1	0	0.00307968	1	0.00310409	8	305				
PHYHIP	9796	broad.mit.edu	37	8	22079169	22079169	+	Silent	SNP	C	C	T	rs375706223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22079169C>T	ENST00000321613.3	-	6	1146	c.690G>A	c.(688-690)acG>acA	p.T230T	PHYHIP_ENST00000454243.2_Silent_p.T230T	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	230										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGTGGTAGGCCGTGTACATGC	0.627																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(688-690)acG>acA		phytanoyl-CoA 2-hydroxylase interacting protein		C	,	2,4114		0,2,2056	19.0	25.0	23.0		690,690	-4.2	1.0	8		23	0,8376		0,0,4188	no	coding-synonymous,coding-synonymous	PHYHIP	NM_001099335.1,NM_014759.3	,	0,2,6244	TT,TC,CC		0.0,0.0486,0.016	,	230/331,230/331	22079169	2,12490	2058	4188	6246	SO:0001819	synonymous_variant	9796							g.chr8:22079169C>T	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.690G>A	8.37:g.22079169C>T						PHYHIP_ENST00000321613.3_Silent_p.T230T	p.T230T	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1264	-			230					D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	c.690G>A	CCDS43723.1																																																																																				0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		16	128	0	0	0	1	0	16	128				
TRIM37	4591	broad.mit.edu	37	17	57089767	57089767	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57089767T>G	ENST00000262294.7	-	22	2876	c.2617A>C	c.(2617-2619)Act>Cct	p.T873P	TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P|TRIM37_ENST00000376149.3_Missense_Mutation_p.T751P	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	873					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCAAATCAGTCATCTGCAGT	0.373									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2251-2253)Act>Cct		tripartite motif containing 37							87.0	84.0	85.0					17																	57089767		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57089767T>G	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2617A>C	17.37:g.57089767T>G	ENSP00000262294:p.Thr873Pro					TRIM37_ENST00000262294.7_Missense_Mutation_p.T873P|TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P	p.T751P			O94972	TRI37_HUMAN			22	3060	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		873					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2251A>C	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416675	0.25552	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.66099	1.58;1.58;-0.19;1.19	6.07	2.57	0.30868	.	0.517276	0.21572	N	0.072381	T	0.38772	0.1053	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30361	0.277;0.0;0.0	B;B;B	0.30943	0.122;0.001;0.0	T	0.22452	-1.0216	10	0.39692	T	0.17	-6.1307	0.8622	0.01195	0.151:0.2499:0.1567:0.4424	.	839;751;873	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	P	873;873;751;839	ENSP00000376785:T873P;ENSP00000262294:T873P;ENSP00000365319:T751P;ENSP00000376784:T839P	ENSP00000262294:T873P	T	-	1	0	TRIM37	54444549	0.014000	0.17966	0.257000	0.24404	0.978000	0.69477	-0.062000	0.11674	0.151000	0.19162	0.533000	0.62120	ACT		0.373	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		69	236	0	0	0	1	0	69	236				
PLCE1	51196	broad.mit.edu	37	10	96018655	96018655	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96018655T>C	ENST00000371380.3	+	11	3888	c.3653T>C	c.(3652-3654)tTt>tCt	p.F1218S	PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1218S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1218					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGTTGAATTTGTTGAGCTG	0.428																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3652-3654)tTt>tCt		phospholipase C, epsilon 1							199.0	189.0	192.0					10																	96018655		1911	4129	6040	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018655T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3653T>C	10.37:g.96018655T>C	ENSP00000360431:p.Phe1218Ser					PLCE1_ENST00000371380.2_Missense_Mutation_p.F1218S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S	p.F1218S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			12	4287	+		Colorectal(252;0.0458)	1218					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3653T>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760881	0.89932	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.62723	1.935	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.84312	0.0511	10	0.87932	D	0	.	15.8373	0.78808	0.0:0.0:0.0:1.0	.	1202;910;1218	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1218;1218;910;910	ENSP00000260766:F1218S;ENSP00000360431:F1218S;ENSP00000360438:F910S;ENSP00000360426:F910S	ENSP00000260766:F1218S	F	+	2	0	PLCE1	96008645	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.622000	0.83099	2.203000	0.70933	0.454000	0.30748	TTT		0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		98	437	0	0	0	1	0	98	437				
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(520-522)tCg>tTg		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							113.0	112.0	112.0					6																	46107841		2203	4299	6502	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107841C>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.521C>T	6.37:g.46107841C>T	ENSP00000318066:p.Ser174Leu						p.S174L	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			2	751	+			174					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.521C>T	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709846	0.48517	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72835	-0.69	5.71	5.71	0.89125	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.992833	0.08206	N	0.981433	T	0.69628	0.3132	M	0.70842	2.15	0.09310	N	1	D	0.53151	0.958	P	0.45639	0.488	T	0.67658	-0.5614	10	0.54805	T	0.06	-14.1878	19.8579	0.96771	0.0:1.0:0.0:0.0	.	174	Q9Y6X5	ENPP4_HUMAN	L	174	ENSP00000318066:S174L	ENSP00000318066:S174L	S	+	2	0	ENPP4	46215800	0.191000	0.23288	0.925000	0.36789	0.833000	0.47200	1.916000	0.39986	2.687000	0.91594	0.655000	0.94253	TCG		0.393	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			101	540	0	0	0	1	0	101	540				
STAB2	55576	broad.mit.edu	37	12	104122724	104122724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104122724C>T	ENST00000388887.2	+	48	5237	c.5033C>T	c.(5032-5034)tCa>tTa	p.S1678L		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATTGATCTCAAATGCTACT	0.493																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5032-5034)tCa>tTa		stabilin 2							127.0	113.0	118.0					12																	104122724		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104122724C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5033C>T	12.37:g.104122724C>T	ENSP00000373539:p.Ser1678Leu						p.S1678L	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			48	5237	+			1678			FAS1 5.			Missense_Mutation	SNP	ENST00000388887.2	37	c.5033C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	6.402	0.442319	0.12164	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90732	-2.72	5.56	5.56	0.83823	FAS1 domain (5);	0.497392	0.20561	N	0.089907	D	0.83917	0.5358	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.25614	0.062	T	0.71699	-0.4514	10	0.30078	T	0.28	.	13.868	0.63600	0.1534:0.8466:0.0:0.0	.	1678	Q8WWQ8	STAB2_HUMAN	L	1678;365	ENSP00000373539:S1678L	ENSP00000258495:S365L	S	+	2	0	STAB2	102646854	0.221000	0.23642	0.037000	0.18230	0.012000	0.07955	2.099000	0.41767	2.595000	0.87683	0.655000	0.94253	TCA		0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			71	384	0	0	0	1	0	71	384				
SEMA5B	54437	broad.mit.edu	37	3	122629748	122629748	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122629748T>C	ENST00000357599.3	-	22	3622	c.3236A>G	c.(3235-3237)cAt>cGt	p.H1079R	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1079					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTAGTGCAAATGGTTGGGGGT	0.532																																						ENST00000357599.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(3235-3237)cAt>cGt		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							94.0	91.0	92.0					3																	122629748		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122629748T>C	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3236A>G	3.37:g.122629748T>C	ENSP00000350215:p.His1079Arg					SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R	p.H1079R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	22	3622	-			1079					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.3236A>G	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.088454|4.088454	0.76756|0.76756	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000357599;ENST00000418793;ENST00000451055;ENST00000393583|ENST00000451541	T;T;T|.	0.33865|.	1.39;1.45;1.48|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52256|0.52256	0.1723|0.1723	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.59357|.	0.982;0.985|.	P;P|.	0.59889|.	0.865;0.84|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.15066|.	T|.	0.55|.	.|.	13.7969|13.7969	0.63177|0.63177	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	985;1079|.	D3YTI7;Q9P283|.	.;SEM5B_HUMAN|.	R|V	1079;985;1133;1079|125	ENSP00000350215:H1079R;ENSP00000389588:H1133R;ENSP00000377208:H1079R|.	ENSP00000350215:H1079R|.	H|I	-|-	2|1	0|0	SEMA5B|SEMA5B	124112438|124112438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.309000|7.309000	0.78937|0.78937	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.532	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		32	403	0	0	0	1	0	32	403				
ATP7B	540	broad.mit.edu	37	13	52524499	52524499	+	Silent	SNP	G	G	A	rs570594838	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52524499G>A	ENST00000242839.4	-	10	2640	c.2484C>T	c.(2482-2484)ggC>ggT	p.G828G	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.G717G|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000417240.2_Silent_p.G100G|ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000418097.2_Silent_p.G828G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	828					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGACGATATCGCCCCGCTGCA	0.567									Wilson disease				G|||	7	0.00139776	0.0	0.0	5008	,	,		19989	0.0		0.0	False		,,,				2504	0.0072					ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(2482-2484)ggC>ggT		ATPase, Cu++ transporting, beta polypeptide							73.0	78.0	76.0					13																	52524499		2145	4254	6399	SO:0001819	synonymous_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52524499G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2484C>T	13.37:g.52524499G>A						ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000417240.2_Silent_p.G100G|ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.G828G|ATP7B_ENST00000400366.3_Silent_p.G717G	p.G828G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	10	2640	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	828					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.2484C>T	CCDS41892.1																																																																																				0.567	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		47	242	0	0	0	1	0	47	242				
ANXA6	309	broad.mit.edu	37	5	150497386	150497386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150497386G>A	ENST00000354546.5	-	19	1678	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F|ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	484					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTCCAGGGACTTGTGATA	0.577																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1450-1452)tCc>tTc		annexin A6							48.0	52.0	51.0					5																	150497386		1941	4132	6073	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150497386G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1451C>T	5.37:g.150497386G>A	ENSP00000346550:p.Ser484Phe					ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F	p.S484F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	1678	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	484					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1451C>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899076	0.72754	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66	5.25	5.25	0.73442	Annexin repeat, conserved site (1);	0.181657	0.48286	D	0.000185	T	0.33352	0.0860	H	0.95260	3.645	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.995;0.991	D;P;P	0.72338	0.977;0.869;0.908	T	0.51284	-0.8725	10	0.87932	D	0	.	17.6098	0.88049	0.0:0.0:1.0:0.0	.	277;484;484	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	F	484;452;141;484;277;358	ENSP00000346550:S484F;ENSP00000430517:S452F;ENSP00000366980:S141F;ENSP00000348889:S484F;ENSP00000430420:S277F	ENSP00000346550:S484F	S	-	2	0	ANXA6	150477579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.204000	0.51082	2.438000	0.82558	0.561000	0.74099	TCC		0.577	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		28	113	0	0	0	1	0	28	113				
UBE4B	10277	broad.mit.edu	37	1	10205050	10205050	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10205050G>A	ENST00000253251.8	+	17	2868	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T|UBE4B_ENST00000377157.3_Missense_Mutation_p.A561T					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTCCCCACTGGCAACTAGACA	0.378																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1681-1683)Gca>Aca		ubiquitination factor E4B							75.0	73.0	74.0					1																	10205050		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10205050G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2029G>A	1.37:g.10205050G>A	ENSP00000253251:p.Ala677Thr					UBE4B_ENST00000253251.8_Missense_Mutation_p.A677T|UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T	p.A561T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	17	2742	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	806						Missense_Mutation	SNP	ENST00000253251.8	37	c.1681G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	36	5.958480	0.97145	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.76	5.83	5.83	0.93111	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.986;0.977;0.975	T	0.77178	-0.2683	10	0.59425	D	0.04	-15.8352	20.1047	0.97888	0.0:0.0:1.0:0.0	.	677;806;677	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	677;561;806	ENSP00000253251:A677T;ENSP00000366362:A561T;ENSP00000343001:A806T	ENSP00000253251:A677T	A	+	1	0	UBE4B	10127637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.183000	0.94887	2.762000	0.94881	0.655000	0.94253	GCA		0.378	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		19	203	0	0	0	1	0	19	203				
SLC4A5	57835	broad.mit.edu	37	2	74491312	74491312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491312C>T	ENST00000377634.4	-	10	1076	c.677G>A	c.(676-678)cGc>cAc	p.R226H	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R226H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R226H|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCTAAGGAGCGGTGGATGGG	0.592																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(676-678)cGc>cAc		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							171.0	145.0	154.0					2																	74491312		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491312C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.677G>A	2.37:g.74491312C>T	ENSP00000366861:p.Arg226His					SLC4A5_ENST00000423644.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R162H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R226H	p.R226H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	1074	-			226						Missense_Mutation	SNP	ENST00000377634.4	37	c.677G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385575	0.95967	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.83	4.83	0.62350	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.87900	2.915	0.80722	D	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	0.988;1.0;1.0;1.0;0.997	D	0.85509	0.1196	10	0.54805	T	0.06	.	15.8121	0.78573	0.0:1.0:0.0:0.0	.	226;226;162;226;226	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	H	226;226;226;162;226;162;226;226;226;226;110	ENSP00000377587:R226H;ENSP00000251768:R226H;ENSP00000352461:R162H;ENSP00000395804:R226H;ENSP00000351513:R162H;ENSP00000350475:R226H;ENSP00000366859:R226H;ENSP00000366861:R226H;ENSP00000405678:R226H;ENSP00000414162:R110H	ENSP00000251768:R226H	R	-	2	0	SLC4A5	74344820	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.629000	0.83207	2.648000	0.89879	0.655000	0.94253	CGC		0.592	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			57	214	0	0	0	1	0	57	214				
SATB2	23314	broad.mit.edu	37	2	200173513	200173513	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200173513G>A	ENST00000417098.1	-	10	2526	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	SATB2_ENST00000443023.1_Silent_p.H511H|SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H|SATB2_ENST00000260926.5_Silent_p.H570H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	570					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.H570H(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTGGACCACGTGTTGCATGC	0.607																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			2	Substitution - coding silent(2)	p.H570H(2)	large_intestine(1)|endometrium(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1531-1533)caC>caT		SATB homeobox 2							162.0	133.0	143.0					2																	200173513		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173513G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1710C>T	2.37:g.200173513G>A						SATB2_ENST00000260926.5_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H|SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000417098.1_Silent_p.H570H	p.H511H			Q9UPW6	SATB2_HUMAN			9	2998	-			570					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1533C>T	CCDS2327.1																																																																																				0.607	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		110	522	0	0	0	1	0	110	522				
CUL7	9820	broad.mit.edu	37	6	43006104	43006104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006104C>A	ENST00000265348.3	-	25	4759	c.4674G>T	c.(4672-4674)caG>caT	p.Q1558H	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.Q1642H			Q14999	CUL7_HUMAN	cullin 7	1558					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTCCAAGTTCTGGCCGTCTT	0.552																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(4924-4926)caG>caT		cullin 7							130.0	110.0	117.0					6																	43006104		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006104C>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4674G>T	6.37:g.43006104C>A	ENSP00000265348:p.Gln1558His					CUL7_ENST00000265348.3_Missense_Mutation_p.Q1558H	p.Q1642H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		25	5012	-			1558					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4926G>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191752	0.38707	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79141	-1.24;-1.24	5.29	1.42	0.22433	.	0.268668	0.34932	N	0.003570	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30709	0.25;0.291;0.162;0.0	B;B;B;B	0.30401	0.115;0.054;0.054;0.0	T	0.17501	-1.0367	10	0.54805	T	0.06	-10.2372	2.5613	0.04772	0.1212:0.4429:0.2375:0.1984	.	1642;1558;1642;1558	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	H	1558;1642	ENSP00000265348:Q1558H;ENSP00000438788:Q1642H	ENSP00000265348:Q1558H	Q	-	3	2	CUL7	43114082	0.010000	0.17322	0.997000	0.53966	0.959000	0.62525	-0.314000	0.08092	0.592000	0.29728	0.655000	0.94253	CAG		0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		62	272	1	0	1.03172e-35	1	1.23296e-35	62	272				
GRN	2896	broad.mit.edu	37	17	42429421	42429421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429421G>T	ENST00000053867.3	+	11	1280	c.1218G>T	c.(1216-1218)caG>caT	p.Q406H	GRN_ENST00000589265.1_Missense_Mutation_p.Q249H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	406					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTGCCCCCAGGGCTACACGT	0.657																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1216-1218)caG>caT		granulin							46.0	47.0	46.0					17																	42429421		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429421G>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1218G>T	17.37:g.42429421G>T	ENSP00000053867:p.Gln406His					GRN_ENST00000589265.1_Missense_Mutation_p.Q249H	p.Q406H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	11	1280	+		Prostate(33;0.0181)	406					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1218G>T	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601522	0.28534	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.71817	-0.6	4.98	-1.24	0.09435	Granulin (3);	1.020460	0.07832	N	0.961501	T	0.44685	0.1305	N	0.05608	-0.01	0.28734	N	0.90234	B;B	0.11235	0.001;0.004	B;B	0.14023	0.003;0.01	T	0.32666	-0.9898	10	0.36615	T	0.2	-0.6967	3.0421	0.06141	0.0868:0.1987:0.3692:0.3453	.	343;406	B4DJI2;P28799	.;GRN_HUMAN	H	406;226	ENSP00000053867:Q406H	ENSP00000053867:Q406H	Q	+	3	2	GRN	39784947	0.000000	0.05858	0.987000	0.45799	0.942000	0.58702	-0.586000	0.05787	0.123000	0.18342	0.561000	0.74099	CAG		0.657	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		59	291	1	0	9.77497e-20	1	1.09193e-19	59	291				
IFT74	80173	broad.mit.edu	37	9	26978214	26978214	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26978214G>A	ENST00000443698.1	+	3	380	c.209G>A	c.(208-210)cGc>cAc	p.R70H	IFT74_ENST00000380062.5_Missense_Mutation_p.R70H|IFT74_ENST00000433700.1_Missense_Mutation_p.R70H|IFT74_ENST00000429045.2_Missense_Mutation_p.R70H	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	70	Basic region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GTTGCCCATCGCCCTGTAACA	0.438																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(208-210)cGc>cAc		intraflagellar transport 74 homolog (Chlamydomonas)							95.0	89.0	91.0					9																	26978214		1884	4117	6001	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26978214G>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.209G>A	9.37:g.26978214G>A	ENSP00000404122:p.Arg70His					IFT74_ENST00000429045.2_Missense_Mutation_p.R70H|IFT74_ENST00000433700.1_Missense_Mutation_p.R70H|IFT74_ENST00000380062.5_Missense_Mutation_p.R70H	p.R70H	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	3	380	+		all_neural(11;2.36e-10)	70					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.209G>A	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427459	0.96131	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000517444;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000518614;ENST00000429045;ENST00000517866	T;T;T;T;T;T;T;T	0.55760	0.5;1.25;0.75;1.25;1.25;0.5;0.5;0.5	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80115	-0.1517	10	0.87932	D	0	-8.4313	20.0155	0.97477	0.0:0.0:1.0:0.0	.	70;70	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	H	70;70;70;70;70;70;70;70;32	ENSP00000430004:R70H;ENSP00000389224:R70H;ENSP00000430096:R70H;ENSP00000404122:R70H;ENSP00000369402:R70H;ENSP00000430526:R70H;ENSP00000393907:R70H;ENSP00000430742:R32H	ENSP00000369402:R70H	R	+	2	0	IFT74	26968214	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.314000	0.96306	2.742000	0.94016	0.591000	0.81541	CGC		0.438	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		11	273	0	0	0	1	0	11	273				
RAI1	10743	broad.mit.edu	37	17	17701060	17701060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17701060C>T	ENST00000353383.1	+	3	5267	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1600					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCCTTCGTGCGGGTGGAGAA	0.617																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4798-4800)Cgg>Tgg		retinoic acid induced 1							84.0	94.0	91.0					17																	17701060		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701060C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4798C>T	17.37:g.17701060C>T	ENSP00000323074:p.Arg1600Trp					RAI1_ENST00000261641.6_Intron	p.R1600W	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5267	+			1600					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4798C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395284	0.62066	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.70164	-0.46	4.56	4.56	0.56223	.	0.198489	0.35615	N	0.003089	T	0.76328	0.3972	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.79200	-0.1901	10	0.72032	D	0.01	.	17.1098	0.86672	0.0:1.0:0.0:0.0	.	1600	Q7Z5J4	RAI1_HUMAN	W	1600;1600;1488	ENSP00000323074:R1600W	ENSP00000322928:R1488W	R	+	1	2	RAI1	17641785	0.997000	0.39634	1.000000	0.80357	0.754000	0.42855	3.915000	0.56409	2.387000	0.81309	0.561000	0.74099	CGG		0.617	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		138	724	0	0	0	1	0	138	724				
USP32	84669	broad.mit.edu	37	17	58286188	58286188	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286188G>A	ENST00000300896.4	-	23	2794	c.2600C>T	c.(2599-2601)gCc>gTc	p.A867V	USP32_ENST00000592339.1_Splice_Site_p.A537V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	867	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTTGTCCCAGGCCTAGCAATA	0.323																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.e23-1		ubiquitin specific peptidase 32							64.0	65.0	64.0					17																	58286188		2203	4299	6502	SO:0001630	splice_region_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58286188G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2599-1C>T	17.37:g.58286188G>A						USP32_ENST00000592339.1_Splice_Site_p.A537_splice	p.A867_splice	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		23	2794	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		867					Q7Z5T3|Q9BX85|Q9Y591	Splice_Site	SNP	ENST00000300896.4	37	c.2598_splice	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323071	0.95708	.	.	ENSG00000170832	ENST00000300896	T	0.31247	1.5	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.47586	-0.9106	10	0.56958	D	0.05	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	867	Q8NFA0	UBP32_HUMAN	V	867	ENSP00000300896:A867V	ENSP00000300896:A867V	A	-	2	0	USP32	55640970	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.807000	0.99171	2.733000	0.93635	0.655000	0.94253	GCC		0.323	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	Missense_Mutation	44	261	0	0	0	1	0	44	261				
PRICKLE2	166336	broad.mit.edu	37	3	64085191	64085191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085191G>A	ENST00000295902.6	-	8	2656	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R747*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	691	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGAGAGCGTCGGGAACGCCTG	0.632																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2071-2073)Cga>Tga		prickle homolog 2 (Drosophila)							43.0	47.0	46.0					3																	64085191		2203	4300	6503	SO:0001587	stop_gained	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085191G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2071C>T	3.37:g.64085191G>A	ENSP00000295902:p.Arg691*					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R747*	p.R691*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2656	-		Lung NSC(201;0.136)	691			Arg-rich.		Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	c.2071C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	44	10.967131	0.99496	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1652	13.9143	0.63887	0.0:0.0:0.7261:0.2739	.	.	.	.	X	691	.	ENSP00000295902:R691X	R	-	1	2	PRICKLE2	64060231	1.000000	0.71417	0.525000	0.27900	0.919000	0.55068	2.830000	0.48136	2.651000	0.90000	0.591000	0.81541	CGA		0.632	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		82	340	0	0	0	1	0	82	340				
HIST1H3J	8356	broad.mit.edu	37	6	27858533	27858533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858533C>T	ENST00000359303.2	-	1	37	c.38G>A	c.(37-39)gGc>gAc	p.G13D	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	13					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGCCTTGCCGCCGGTAGACTT	0.597																																						ENST00000359303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(37-39)gGc>gAc		histone cluster 1, H3j							30.0	33.0	32.0					6																	27858533		2192	4287	6479	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858533C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.38G>A	6.37:g.27858533C>T	ENSP00000352252:p.Gly13Asp					HIST1H3J_ENST00000479986.1_5'UTR	p.G13D	NM_003535.2	NP_003526.1	P68431	H31_HUMAN			1	37	-			13					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.38G>A	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141759	0.37825	.	.	ENSG00000197153	ENST00000359303	T	0.46063	0.88	4.06	4.06	0.47325	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.52501	D	0.999954	.	.	.	.	.	.	T	0.56080	-0.8038	6	0.66056	D	0.02	.	16.036	0.80628	0.0:1.0:0.0:0.0	.	.	.	.	D	13	ENSP00000352252:G13D	ENSP00000352252:G13D	G	-	2	0	HIST1H3J	27966512	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.290000	0.78711	2.560000	0.86352	0.655000	0.94253	GGC		0.597	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		36	303	0	0	0	1	0	36	303				
SPTBN4	57731	broad.mit.edu	37	19	41021217	41021217	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41021217G>T	ENST00000352632.3	+	15	2851		c.e15-1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCTCCTGCAGATTCGAGAGC	0.537																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.e15-1		spectrin, beta, non-erythrocytic 4							54.0	42.0	46.0					19																	41021217		2203	4300	6503	SO:0001630	splice_region_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41021217G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2766-1G>T	19.37:g.41021217G>T						SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site				Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		15	2851	+								E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Splice_Site	SNP	ENST00000352632.3	37		CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918493	0.73098	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7914	0.78367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN4	45713057	1.000000	0.71417	0.567000	0.28434	0.864000	0.49448	9.595000	0.98260	2.256000	0.74724	0.491000	0.48974	.		0.537	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Intron	5	89	1	0	0.014758	1	0.0148251	5	89				
SP140L	93349	broad.mit.edu	37	2	231256917	231256917	+	Silent	SNP	C	C	T	rs367991609		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231256917C>T	ENST00000415673.2	+	12	1166	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	SP140L_ENST00000243810.6_Silent_p.G360G|SP140L_ENST00000444636.1_Silent_p.G360G|SP140L_ENST00000396563.4_Silent_p.G325G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	360	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGCGCTGTGGCGGGTGGCCCC	0.493																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1078-1080)ggC>ggT		SP140 nuclear body protein-like							88.0	104.0	99.0					2																	231256917		2066	4195	6261	SO:0001819	synonymous_variant	93349					nucleus	DNA binding|metal ion binding	g.chr2:231256917C>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1080C>T	2.37:g.231256917C>T						SP140L_ENST00000396563.4_Silent_p.G325G|SP140L_ENST00000415673.2_Silent_p.G360G|SP140L_ENST00000444636.1_Silent_p.G360G	p.G360G			Q9H930	LY10L_HUMAN			12	1080	+			360			SAND.		Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	37	c.1080C>T	CCDS46538.1																																																																																				0.493	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		85	283	0	0	0	1	0	85	283				
UBR5	51366	broad.mit.edu	37	8	103338880	103338880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103338880G>A	ENST00000520539.1	-	13	2099	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	UBR5_ENST00000521922.1_Missense_Mutation_p.P492L|UBR5_ENST00000220959.4_Missense_Mutation_p.P498L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	498					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGACTAAAAGGAACTACACC	0.328																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1492-1494)cCt>cTt		ubiquitin protein ligase E3 component n-recognin 5							140.0	128.0	132.0					8																	103338880		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103338880G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1493C>T	8.37:g.103338880G>A	ENSP00000429084:p.Pro498Leu					UBR5_ENST00000521922.1_Missense_Mutation_p.P492L|UBR5_ENST00000220959.4_Missense_Mutation_p.P498L	p.P498L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		13	2099	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		498					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1493C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738842	0.89573	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.75477	-0.94;-0.94;-0.92	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.76727	2.345	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.64595	0.927;0.927	D	0.87270	0.2285	10	0.87932	D	0	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	492;498	E7EMW7;O95071	.;UBR5_HUMAN	L	498;498;492	ENSP00000429084:P498L;ENSP00000220959:P498L;ENSP00000427819:P492L	ENSP00000220959:P498L	P	-	2	0	UBR5	103408056	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.373000	0.97168	2.566000	0.86566	0.460000	0.39030	CCT		0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		28	178	0	0	0	1	0	28	178				
PPARG	5468	broad.mit.edu	37	3	12458305	12458305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12458305C>T	ENST00000287820.6	+	6	1043	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000309576.6_Missense_Mutation_p.R280C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Missense_Mutation_p.R280C|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Missense_Mutation_p.R286C|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	308					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	GGTGGCCATCCGCATCTTTCA	0.463			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															ENST00000397026.2				Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(856-858)Cgc>Tgc		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						83.0	80.0	81.0					3																	12458305		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12458305C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.922C>T	3.37:g.12458305C>T	ENSP00000287820:p.Arg308Cys					PPARG_ENST00000287820.6_Missense_Mutation_p.R308C|PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Missense_Mutation_p.R280C|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000309576.6_Missense_Mutation_p.R280C|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C	p.R286C			P37231	PPARG_HUMAN			8	1239	+			308					A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.856C>T	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615982	0.66672	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.13	6.13	0.99165	Nuclear hormone receptor, ligand-binding (2);	0.147023	0.64402	D	0.000006	T	0.74313	0.3700	M	0.74881	2.28	0.80722	D	1	B	0.23540	0.087	B	0.21360	0.034	T	0.70132	-0.4956	10	0.62326	D	0.03	.	20.8599	0.99761	0.0:1.0:0.0:0.0	.	308	P37231	PPARG_HUMAN	C	280;280;280;280;286;308	ENSP00000380205:R280C;ENSP00000312472:R280C;ENSP00000380210:R280C;ENSP00000380207:R280C;ENSP00000380221:R286C;ENSP00000287820:R308C	ENSP00000287820:R308C	R	+	1	0	PPARG	12433305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.684000	0.61686	2.937000	0.99478	0.650000	0.86243	CGC		0.463	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		13	270	0	0	0	1	0	13	270				
LRRC66	339977	broad.mit.edu	37	4	52861802	52861802	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52861802C>A	ENST00000343457.3	-	4	1392	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	462						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGGGTGTGGCTGTGTCACCC	0.577																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1384-1386)caG>caT		leucine rich repeat containing 66							82.0	88.0	86.0					4																	52861802		2030	4175	6205	SO:0001583	missense	339977					integral to membrane		g.chr4:52861802C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1386G>T	4.37:g.52861802C>A	ENSP00000341944:p.Gln462His						p.Q462H	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1392	-			462						Missense_Mutation	SNP	ENST00000343457.3	37	c.1386G>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513089	0.27123	.	.	ENSG00000188993	ENST00000343457	T	0.28255	1.62	2.99	2.14	0.27477	.	0.859774	0.09688	N	0.768846	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	P	0.52316	0.952	B	0.39660	0.306	T	0.10706	-1.0618	10	0.59425	D	0.04	-0.0013	3.7545	0.08579	0.2394:0.6286:0.0:0.132	.	462	Q68CR7	LRC66_HUMAN	H	462	ENSP00000341944:Q462H	ENSP00000341944:Q462H	Q	-	3	2	LRRC66	52556559	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.063000	0.11655	0.834000	0.34852	0.467000	0.42956	CAG		0.577	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		95	399	1	0	1.76565e-42	1	2.15003e-42	95	399				
ASAP2	8853	broad.mit.edu	37	2	9463281	9463281	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9463281G>A	ENST00000281419.3	+	6	842	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	168					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGGAACACGCCAAGCTCCA	0.493																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(502-504)Gcc>Acc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							118.0	118.0	118.0					2																	9463281		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9463281G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.502G>A	2.37:g.9463281G>A	ENSP00000281419:p.Ala168Thr					ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	p.A168T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			6	842	+			168					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.502G>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649500	0.96714	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.04551	3.6;3.6	5.21	5.21	0.72293	.	0.109197	0.64402	D	0.000006	T	0.22589	0.0545	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.954	T	0.00162	-1.1971	10	0.51188	T	0.08	.	18.5624	0.91105	0.0:0.0:1.0:0.0	.	168;168	O43150-2;O43150	.;ASAP2_HUMAN	T	168	ENSP00000281419:A168T;ENSP00000316404:A168T	ENSP00000281419:A168T	A	+	1	0	ASAP2	9380732	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	9.342000	0.97044	2.702000	0.92279	0.655000	0.94253	GCC		0.493	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		74	695	0	0	0	1	0	74	695				
TEAD4	7004	broad.mit.edu	37	12	3120191	3120191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3120191G>A	ENST00000359864.2	+	4	438	c.248G>A	c.(247-249)cGc>cAc	p.R83H	TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	83					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTGATTGCCCGCTACATCAAG	0.627																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(247-249)cGc>cAc		TEA domain family member 4							74.0	72.0	73.0					12																	3120191		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3120191G>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.248G>A	12.37:g.3120191G>A	ENSP00000352926:p.Arg83His					TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H	p.R83H	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		4	438	+	Ovarian(42;0.211)		83					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000359864.2	37	c.248G>A	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860372	0.91433	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.34472	1.36;1.36;1.36	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79519	-0.1770	10	0.87932	D	0	-22.6944	15.6893	0.77436	0.0:0.0:1.0:0.0	.	83	Q15561	TEAD4_HUMAN	H	83	ENSP00000351184:R83H;ENSP00000352926:R83H;ENSP00000444528:R83H	ENSP00000351184:R83H	R	+	2	0	TEAD4	2990452	0.997000	0.39634	0.998000	0.56505	0.955000	0.61496	7.666000	0.83877	2.556000	0.86216	0.561000	0.74099	CGC		0.627	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	NM_003213		95	363	0	0	0	1	0	95	363				
PCDHB13	56123	broad.mit.edu	37	5	140595695	140595695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595695C>A	ENST00000341948.4	+	1	2187	c.2000C>A	c.(1999-2001)tCc>tAc	p.S667Y		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.701																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1999-2001)tCc>tAc									37.0	42.0	40.0					5																	140595695		2066	4072	6138	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595695C>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2000C>A	5.37:g.140595695C>A	ENSP00000345491:p.Ser667Tyr						p.S667Y	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2187	+			667			Cadherin 6.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2000C>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	19.67	3.870659	0.72065	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.52057	0.68	3.3	3.3	0.37823	Cadherin (2);	.	.	.	.	T	0.71307	0.3324	M	0.88979	2.995	0.42107	D	0.991368	D	0.76494	0.999	D	0.69307	0.963	T	0.79892	-0.1611	9	0.87932	D	0	.	14.5914	0.68368	0.0:1.0:0.0:0.0	.	667	Q9Y5F0	PCDBD_HUMAN	Y	667;667;613	ENSP00000345491:S667Y	ENSP00000345491:S667Y	S	+	2	0	PCDHB13	140575879	0.951000	0.32395	0.997000	0.53966	0.794000	0.44872	2.747000	0.47475	1.576000	0.49790	0.298000	0.19748	TCC		0.701	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		142	714	1	0	7.45053e-56	1	9.31899e-56	142	714				
CAD	790	broad.mit.edu	37	2	27455960	27455960	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27455960C>T	ENST00000403525.1	+	18	2898	c.2754C>T	c.(2752-2754)acC>acT	p.T918T	CAD_ENST00000264705.4_Silent_p.T981T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTCAGCACCGACTATGACA	0.498																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2941-2943)acC>acT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						214.0	173.0	187.0					2																	27455960		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27455960C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2754C>T	2.37:g.27455960C>T						CAD_ENST00000403525.1_Silent_p.T918T	p.T981T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			19	3105	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		981			CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2943C>T																																																																																					0.498	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			11	308	0	0	0	1	0	11	308				
ZNF484	83744	broad.mit.edu	37	9	95610117	95610117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95610117G>A	ENST00000375495.3	-	5	1100	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	ZNF484_ENST00000395505.2_Missense_Mutation_p.R282C|ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTTTTCTGACGGTTTGACTTG	0.428																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(844-846)Cgt>Tgt		zinc finger protein 484							100.0	95.0	97.0					9																	95610117		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610117G>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.952C>T	9.37:g.95610117G>A	ENSP00000364645:p.Arg318Cys					ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.R318C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C	p.R282C	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	936	-			318					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.844C>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	6.193	0.403864	0.11754	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.37;3.39;3.23	2.44	1.53	0.23141	.	.	.	.	.	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	P;P	0.46327	0.876;0.876	B;B	0.34452	0.183;0.118	T	0.34304	-0.9834	9	0.87932	D	0	.	8.5598	0.33503	0.0:0.0:0.7684:0.2316	.	320;318	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	282;320;318;282	ENSP00000378881:R282C;ENSP00000378882:R320C;ENSP00000364645:R318C;ENSP00000364646:R282C	ENSP00000364646:R282C	R	-	1	0	ZNF484	94649938	0.000000	0.05858	0.044000	0.18714	0.170000	0.22686	-0.166000	0.09954	0.585000	0.29608	-0.172000	0.13284	CGT		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		67	330	0	0	0	1	0	67	330				
PITPNC1	26207	broad.mit.edu	37	17	65671660	65671660	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65671660T>C	ENST00000581322.1	+	8	682		c.e8+2		PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000580974.1_Splice_Site|PITPNC1_ENST00000335257.6_Splice_Site			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGTGGTATGGTAAGTCAATTT	0.408																																						ENST00000580974.1																			0				breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.e8+2		phosphatidylinositol transfer protein, cytoplasmic 1							182.0	171.0	174.0					17																	65671660		1917	4128	6045	SO:0001630	splice_region_variant	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65671660T>C	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.682+2T>C	17.37:g.65671660T>C						PITPNC1_ENST00000335257.6_Splice_Site|PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000581322.1_Splice_Site		NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		8	1378	+	all_cancers(12;3.03e-10)							A8K473|J3QR20|Q96I07	Splice_Site	SNP	ENST00000581322.1	37		CCDS58588.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874773	0.91664	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0985	0.81148	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PITPNC1	63102122	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.915000	0.87484	2.216000	0.71823	0.443000	0.29094	.		0.408	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417	Intron	75	349	0	0	0	1	0	75	349				
TNKS1BP1	85456	broad.mit.edu	37	11	57077332	57077332	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57077332C>T	ENST00000532437.1	-	5	3164	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.E951E			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	951	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCTTCCCAAACTCCTGTTCCT	0.592																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2851-2853)gaG>gaA		tankyrase 1 binding protein 1, 182kDa							96.0	108.0	104.0					11																	57077332		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077332C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2853G>A	11.37:g.57077332C>T						TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.E951E	p.E951E			Q9C0C2	TB182_HUMAN			5	3164	-		all_epithelial(135;0.21)	951			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.2853G>A	CCDS7951.1																																																																																				0.592	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		151	697	0	0	0	1	0	151	697				
TOM1L2	146691	broad.mit.edu	37	17	17766150	17766150	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17766150T>A	ENST00000379504.3	-	11	1180	c.1097A>T	c.(1096-1098)gAg>gTg	p.E366V	TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000581396.1_Missense_Mutation_p.E316V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	366					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ACTGACGCTCTCTGTCCCCAA	0.537																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(946-948)gAg>gTg		target of myb1-like 2 (chicken)							118.0	111.0	114.0					17																	17766150		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17766150T>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1097A>T	17.37:g.17766150T>A	ENSP00000368818:p.Glu366Val					TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E366V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V	p.E316V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			10	1043	-	all_neural(463;0.228)		366					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.947A>T	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453805	0.63290	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.47869	1.85;1.84;1.83;1.82;0.83	5.88	5.88	0.94601	.	0.480039	0.25726	N	0.028717	T	0.46870	0.1415	N	0.14661	0.345	0.45528	D	0.998487	B;P;P;P;P;P	0.52170	0.052;0.951;0.774;0.497;0.712;0.883	B;P;B;B;B;B	0.55871	0.057;0.786;0.265;0.162;0.247;0.33	T	0.44498	-0.9324	10	0.33141	T	0.24	-10.1202	16.2879	0.82732	0.0:0.0:0.0:1.0	.	268;218;313;321;366;316	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	V	366;316;321;313;268;218	ENSP00000368818:E366V;ENSP00000379088:E321V;ENSP00000438621:E313V;ENSP00000437655:E268V;ENSP00000445188:E218V	ENSP00000312860:E316V	E	-	2	0	TOM1L2	17706875	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.866000	0.87056	2.242000	0.73789	0.533000	0.62120	GAG		0.537	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			13	506	0	0	0	1	0	13	506				
OR9G1	390174	broad.mit.edu	37	11	56467921	56467921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56467921C>T	ENST00000312153.1	+	1	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CACCACAGACCCAGGAATGCA	0.502																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(58-60)Cca>Tca		olfactory receptor, family 9, subfamily G, member 1							137.0	119.0	125.0					11																	56467921		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56467921C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.58C>T	11.37:g.56467921C>T	ENSP00000309012:p.Pro20Ser						p.P20S	NM_001005213.1	NP_001005213.1					1	58	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.58C>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	4.770	0.143221	0.09083	.	.	ENSG00000174914	ENST00000312153	T	0.00428	7.44	4.52	0.481	0.16809	.	0.000000	0.52532	D	0.000071	T	0.00328	0.0010	M	0.64170	1.965	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.46762	-0.9168	10	0.49607	T	0.09	-25.9779	4.4132	0.11443	0.1288:0.597:0.1252:0.149	.	20	Q8NH87	OR9G1_HUMAN	S	20	ENSP00000309012:P20S	ENSP00000309012:P20S	P	+	1	0	OR9G1	56224497	0.000000	0.05858	0.012000	0.15200	0.236000	0.25371	-0.416000	0.07097	0.229000	0.21039	-0.252000	0.11476	CCA		0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		15	377	0	0	0	1	0	15	377				
BPNT1	10380	broad.mit.edu	37	1	220253166	220253166	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220253166A>G	ENST00000469520.2	-	3	472	c.23T>C	c.(22-24)tTg>tCg	p.L8S	BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S|BPNT1_ENST00000482136.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAACCGCATCAACACAGTGTT	0.398																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(22-24)tTg>tCg		3'(2'), 5'-bisphosphate nucleotidase 1							99.0	87.0	91.0					1																	220253166		1903	4113	6016	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220253166A>G	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.23T>C	1.37:g.220253166A>G	ENSP00000446828:p.Leu8Ser					BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S|BPNT1_ENST00000482136.1_Intron	p.L8S			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	3	472	-			8					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.23T>C	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728609	0.69074	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.51	5.51	0.81932	.	0.145283	0.42172	D	0.000758	D	0.93716	0.7992	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.91635	0.965;0.998;0.999	D	0.94960	0.8107	10	0.87932	D	0	.	14.6341	0.68676	1.0:0.0:0.0:0.0	.	8;8;8	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	S	8	ENSP00000318852:L8S;ENSP00000446828:L8S;ENSP00000346862:L8S;ENSP00000410348:L8S;ENSP00000446953:L8S;ENSP00000446850:L8S;ENSP00000449883:L8S	ENSP00000307087:L8S	L	-	2	0	BPNT1	218319789	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	7.179000	0.77665	2.112000	0.64535	0.472000	0.43445	TTG		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		51	258	0	0	0	1	0	51	258				
VWA5A	4013	broad.mit.edu	37	11	123993815	123993815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123993815G>T	ENST00000456829.2	+	8	1160	c.909G>T	c.(907-909)caG>caT	p.Q303H	VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	303	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATACATCTCAGCTGCGAATAC	0.473																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(907-909)caG>caT		von Willebrand factor A domain containing 5A							74.0	64.0	67.0					11																	123993815		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123993815G>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.909G>T	11.37:g.123993815G>T	ENSP00000407726:p.Gln303His					VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H	p.Q303H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			8	1160	+			303			VWFA.		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.909G>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802283	0.50315	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.22336	2.54;1.96;2.54;2.17;2.17;2.16	5.96	0.729	0.18266	von Willebrand factor, type A (3);	0.387974	0.28940	N	0.013646	T	0.41073	0.1143	M	0.83312	2.635	0.09310	N	0.999999	P;D	0.89917	0.902;1.0	B;D	0.77557	0.411;0.99	T	0.17653	-1.0362	10	0.54805	T	0.06	-12.7857	5.2398	0.15465	0.4039:0.1379:0.4582:0.0	.	319;303	B4DHS6;O00534	.;VMA5A_HUMAN	H	303;303;303;303;303;319	ENSP00000407726:Q303H;ENSP00000353485:Q303H;ENSP00000376504:Q303H;ENSP00000355070:Q303H;ENSP00000404683:Q303H;ENSP00000376501:Q319H	ENSP00000353485:Q303H	Q	+	3	2	VWA5A	123499025	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.323000	0.19593	-0.104000	0.12154	-0.150000	0.13652	CAG		0.473	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		45	139	1	0	1.61863e-15	1	1.77026e-15	45	139				
EYS	346007	broad.mit.edu	37	6	66063417	66063417	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063417A>C	ENST00000370621.3	-	9	1919	c.1393T>G	c.(1393-1395)Ttc>Gtc	p.F465V	EYS_ENST00000370618.3_Missense_Mutation_p.F465V|EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000503581.1_Missense_Mutation_p.F465V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATACCATGGAAGGTGACTCCA	0.368																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1393-1395)Ttc>Gtc		eyes shut homolog (Drosophila)							117.0	107.0	111.0					6																	66063417		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063417A>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1393T>G	6.37:g.66063417A>C	ENSP00000359655:p.Phe465Val					EYS_ENST00000370618.3_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V|EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000370621.3_Missense_Mutation_p.F465V	p.F465V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			9	1930	-			465					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1393T>G		.	.	.	.	.	.	.	.	.	.	a	5.754	0.323466	0.10900	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	4.14	1.69	0.24217	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.11329	0.006;0.004;0.005	T	0.47849	-0.9085	9	0.17369	T	0.5	.	3.4856	0.07618	0.6336:0.0:0.1204:0.2461	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	465	ENSP00000424243:F465V;ENSP00000359655:F465V;ENSP00000359650:F465V;ENSP00000377042:F465V;ENSP00000341818:F465V;ENSP00000359652:F465V	ENSP00000341818:F465V	F	-	1	0	EYS	66120138	0.011000	0.17503	0.001000	0.08648	0.009000	0.06853	1.014000	0.29950	0.063000	0.16370	-0.326000	0.08463	TTC		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		63	328	0	0	0	1	0	63	328				
NID1	4811	broad.mit.edu	37	1	236205427	236205427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236205427C>A	ENST00000264187.6	-	4	1000	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NID1_ENST00000366595.3_Missense_Mutation_p.E306D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	306					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGCCCACATCCTCCAGGCCCA	0.607																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(916-918)gaG>gaT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						149.0	132.0	138.0					1																	236205427		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205427C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.918G>T	1.37:g.236205427C>A	ENSP00000264187:p.Glu306Asp					NID1_ENST00000366595.3_Missense_Mutation_p.E306D	p.E306D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	1000	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	306					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.918G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	1.974	-0.435723	0.04636	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88277	-1.7;-2.36	5.81	0.73	0.18271	.	1.175610	0.05899	N	0.629702	T	0.80287	0.4595	N	0.25890	0.77	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.002	T	0.61317	-0.7087	10	0.22109	T	0.4	.	5.3998	0.16288	0.0:0.507:0.1321:0.361	.	306;306	P14543-2;P14543	.;NID1_HUMAN	D	306	ENSP00000264187:E306D;ENSP00000355554:E306D	ENSP00000264187:E306D	E	-	3	2	NID1	234272050	0.002000	0.14202	0.028000	0.17463	0.143000	0.21401	-0.349000	0.07731	-0.103000	0.12175	0.563000	0.77884	GAG		0.607	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		222	662	1	0	3.02832e-84	1	3.87969e-84	222	662				
C12orf29	91298	broad.mit.edu	37	12	88437384	88437384	+	Missense_Mutation	SNP	T	T	C	rs74511812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88437384T>C	ENST00000356891.3	+	4	516	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	105					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						agaatttttttGGAACGTTGA	0.358																																						ENST00000356891.3																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(313-315)Tgg>Cgg		chromosome 12 open reading frame 29							31.0	33.0	32.0					12																	88437384		2202	4300	6502	SO:0001583	missense	91298							g.chr12:88437384T>C	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.313T>C	12.37:g.88437384T>C	ENSP00000349358:p.Trp105Arg					C12orf29_ENST00000548757.2_3'UTR	p.W105R	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN			4	516	+			105					Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Missense_Mutation	SNP	ENST00000356891.3	37	c.313T>C	CCDS31866.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489869	0.64074	.	.	ENSG00000133641	ENST00000356891	T	0.39592	1.07	5.45	5.45	0.79879	.	0.057827	0.85682	D	0.000000	T	0.43233	0.1238	M	0.73598	2.24	0.80722	D	1	P	0.42620	0.785	B	0.35240	0.198	T	0.53927	-0.8369	10	0.87932	D	0	-22.0648	14.3702	0.66833	0.0:0.0:0.0:1.0	.	105	Q8N999	CL029_HUMAN	R	105	ENSP00000349358:W105R	ENSP00000349358:W105R	W	+	1	0	C12orf29	86961515	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.237000	0.78164	2.189000	0.69895	0.460000	0.39030	TGG		0.358	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		27	86	0	0	0	1	0	27	86				
FAM162A	26355	broad.mit.edu	37	3	122126163	122126163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122126163G>A	ENST00000477892.1	+	4	383	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q|FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	100	Required for proapoptotic activity.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AACAAGATGCGAGTGAAGATC	0.423																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(298-300)cGa>cAa		family with sequence similarity 162, member A							174.0	169.0	171.0					3																	122126163		1964	4167	6131	SO:0001583	missense	26355					integral to membrane		g.chr3:122126163G>A	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.299G>A	3.37:g.122126163G>A	ENSP00000419088:p.Arg100Gln					FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q|FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q	p.R100Q	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN			4	383	+			100					Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	c.299G>A	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378827	0.61735	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.61742	0.08;0.08;0.08	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.89095	3.005	0.41776	D	0.989797	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.971	T	0.82564	-0.0394	10	0.72032	D	0.01	.	14.8533	0.70316	0.0:0.0:1.0:0.0	.	100;100	E9PH05;Q96A26	.;F162A_HUMAN	Q	90;100;100;99	ENSP00000232125:R90Q;ENSP00000419088:R100Q;ENSP00000419491:R100Q	ENSP00000232125:R90Q	R	+	2	0	FAM162A	123608853	0.996000	0.38824	0.797000	0.32132	0.005000	0.04900	6.467000	0.73547	2.880000	0.98712	0.650000	0.86243	CGA		0.423	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		26	256	0	0	0	1	0	26	256				
CAPN3	825	broad.mit.edu	37	15	42652272	42652272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42652272G>A	ENST00000397163.3	+	1	488	c.269G>A	c.(268-270)aGc>aAc	p.S90N	CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.S90N|CAPN3_ENST00000356316.3_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	90	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTCTTTTATAGCCAGAAGTTC	0.498																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(268-270)aGc>aAc		calpain 3, (p94)							180.0	200.0	193.0					15																	42652272		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42652272G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.269G>A	15.37:g.42652272G>A	ENSP00000380349:p.Ser90Asn					CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N|CAPN3_ENST00000349748.3_Missense_Mutation_p.S90N|RP11-164J13.1_ENST00000495723.1_RNA	p.S90N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	1	488	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	90			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.269G>A	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278620	0.80692	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.83	5.83	0.93111	Peptidase C2, calpain, catalytic domain (3);	0.148988	0.46442	U	0.000295	D	0.96281	0.8787	N	0.16016	0.355	0.58432	D	0.999996	B;P;D	0.53619	0.206;0.951;0.961	B;P;P	0.61477	0.141;0.823;0.889	D	0.95688	0.8738	10	0.32370	T	0.25	.	20.1047	0.97888	0.0:0.0:1.0:0.0	.	90;90;90	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	N	90	ENSP00000380349:S90N;ENSP00000350181:S90N;ENSP00000183936:S90N;ENSP00000326281:S90N	ENSP00000326281:S90N	S	+	2	0	CAPN3	40439564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.438000	0.59961	2.762000	0.94881	0.655000	0.94253	AGC		0.498	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			27	1757	0	0	0	1	0	27	1757				
MCCC1	56922	broad.mit.edu	37	3	182810240	182810240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182810240G>A	ENST00000265594.4	-	3	376	c.230C>T	c.(229-231)gCg>gTg	p.A77V	MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	77	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACTATAAACCGCCACAGTCTG	0.423																																						ENST00000265594.4																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(229-231)gCg>gTg		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						127.0	106.0	113.0					3																	182810240		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182810240G>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.230C>T	3.37:g.182810240G>A	ENSP00000265594:p.Ala77Val					MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	p.A77V	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		3	376	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		77			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.230C>T	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109918	0.94292	.	.	ENSG00000078070	ENST00000265594	D	0.94497	-3.44	5.86	5.86	0.93980	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98043	1.0383	10	0.87932	D	0	.	18.9487	0.92632	0.0:0.0:1.0:0.0	.	77	Q96RQ3	MCCA_HUMAN	V	77	ENSP00000265594:A77V	ENSP00000265594:A77V	A	-	2	0	MCCC1	184292934	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	9.064000	0.93933	2.778000	0.95560	0.655000	0.94253	GCG		0.423	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		78	299	0	0	0	1	0	78	299				
BCAN	63827	broad.mit.edu	37	1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156618630G>A	ENST00000329117.5	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	BCAN_ENST00000361588.5_Missense_Mutation_p.R347H|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	347	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACAGCCGCTTCAACGTC	0.572																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1039-1041)cGc>cAc		brevican							85.0	87.0	86.0					1																	156618630		2203	4299	6502	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618630G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1040G>A	1.37:g.156618630G>A	ENSP00000331210:p.Arg347His					BCAN_ENST00000361588.5_Missense_Mutation_p.R347H|RP11-284F21.7_ENST00000448869.1_RNA	p.R347H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			6	1376	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		347			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1040G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480788	0.84747	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12465	2.68;2.68	4.72	4.72	0.59763	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.102141	0.41194	D	0.000921	T	0.23532	0.0569	M	0.67517	2.055	0.51482	D	0.999921	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.86	T	0.00605	-1.1648	10	0.87932	D	0	-17.4487	10.0728	0.42343	0.093:0.0:0.907:0.0	.	347;347	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	288;347;347	ENSP00000331210:R347H;ENSP00000354925:R347H	ENSP00000255029:R288H	R	+	2	0	BCAN	154885254	0.780000	0.28664	1.000000	0.80357	0.984000	0.73092	3.661000	0.54503	2.453000	0.82957	0.462000	0.41574	CGC		0.572	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		224	622	0	0	0	1	0	224	622				
TNFSF12	8742	broad.mit.edu	37	17	7460175	7460175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7460175G>A	ENST00000293825.6	+	6	717	c.454G>A	c.(454-456)Gag>Aag	p.E152K	TNFSF13_ENST00000338784.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank|TNFSF13_ENST00000380535.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.E152K|TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000349228.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	152					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CCAGATCGGGGAGTTTATAGT	0.582																																						ENST00000293826.4																			0				central_nervous_system(1)|large_intestine(2)	3						c.(454-456)Gag>Aag									52.0	48.0	50.0					17																	7460175		2203	4300	6503	SO:0001583	missense	0				immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7460175G>A	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.454G>A	17.37:g.7460175G>A	ENSP00000293825:p.Glu152Lys					TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF12_ENST00000293825.6_Missense_Mutation_p.E152K|TNFSF12_ENST00000462811.1_3'UTR	p.E152K	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN			6	509	+		Prostate(122;0.157)	152					Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	ENST00000293825.6	37	c.454G>A	CCDS11109.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136305	0.77662	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D;D	0.94687	-3.49;-3.49;-3.49	4.71	2.69	0.31865	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.688639	0.12808	N	0.437389	D	0.88089	0.6343	N	0.20685	0.6	0.28031	N	0.934134	B;B	0.21071	0.001;0.051	B;B	0.19946	0.003;0.027	T	0.79916	-0.1601	10	0.46703	T	0.11	-0.4336	7.5403	0.27733	0.0933:0.1773:0.7294:0.0	.	152;152	Q8IZK7;O43508	.;TNF12_HUMAN	K	152	ENSP00000293825:E152K;ENSP00000451451:E152K;ENSP00000293826:E152K	ENSP00000293825:E152K	E	+	1	0	TNFSF12-TNFSF13;TNFSF12	7400899	0.997000	0.39634	0.944000	0.38274	0.676000	0.39594	1.110000	0.31147	0.529000	0.28599	0.561000	0.74099	GAG		0.582	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809		23	133	0	0	0	1	0	23	133				
CNOT2	4848	broad.mit.edu	37	12	70731292	70731292	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70731292C>A	ENST00000418359.3	+	10	1350	c.899C>A	c.(898-900)tCt>tAt	p.S300Y	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Splice_Site_p.S300Y	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	300					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GACAGTAAATCTGTAAGTAAC	0.328																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.e9+1		CCR4-NOT transcription complex, subunit 2							95.0	93.0	94.0					12																	70731292		2203	4300	6503	SO:0001630	splice_region_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70731292C>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.900+1C>A	12.37:g.70731292C>A						CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Splice_Site_p.S300_splice	p.S300_splice	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		9	1478	+	Renal(347;0.236)		300					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Splice_Site	SNP	ENST00000418359.3	37	c.900_splice	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779111	0.70107	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.94	5.94	0.96194	.	0.094664	0.85682	D	0.000000	T	0.69620	0.3131	L	0.43152	1.355	0.80722	D	1	P;P	0.51351	0.944;0.898	P;B	0.44811	0.461;0.252	T	0.68522	-0.5386	10	0.39692	T	0.17	-7.0559	20.3501	0.98811	0.0:1.0:0.0:0.0	.	300;300	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	Y	300;300;300;163;239;291;300;110	ENSP00000450318:S300Y;ENSP00000229195:S300Y;ENSP00000412091:S300Y;ENSP00000448490:S163Y;ENSP00000447497:S239Y;ENSP00000449659:S291Y;ENSP00000449260:S300Y;ENSP00000448499:S110Y	ENSP00000229195:S300Y	S	+	2	0	CNOT2	69017559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.807000	0.96579	0.650000	0.86243	TCT		0.328	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1		Missense_Mutation	36	290	1	0	1.836e-18	1	2.03801e-18	36	290				
TGM6	343641	broad.mit.edu	37	20	2398031	2398031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2398031G>A	ENST00000202625.2	+	10	1551	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	497					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGCATCGCTGGCAAGTTCAAG	0.652																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1489-1491)gGc>gAc		transglutaminase 6	L-Glutamine(DB00130)						43.0	39.0	40.0					20																	2398031		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2398031G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1490G>A	20.37:g.2398031G>A	ENSP00000202625:p.Gly497Asp					TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	p.G497D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			10	1551	+			497					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1490G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195447	0.58126	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.68624	-0.34;-0.34	4.67	4.67	0.58626	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.062472	0.64402	D	0.000004	T	0.80813	0.4695	M	0.79258	2.445	0.42971	D	0.994436	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83263	-0.0047	10	0.72032	D	0.01	-38.5886	12.9459	0.58371	0.0:0.0:1.0:0.0	.	497;497	O95932-2;O95932	.;TGM3L_HUMAN	D	497	ENSP00000202625:G497D;ENSP00000370831:G497D	ENSP00000202625:G497D	G	+	2	0	TGM6	2346031	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.429000	0.66495	2.437000	0.82529	0.655000	0.94253	GGC		0.652	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		42	148	0	0	0	1	0	42	148				
RYR3	6263	broad.mit.edu	37	15	33954869	33954869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954869C>A	ENST00000389232.4	+	35	5208	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H	RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1713	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCGAGACCCTGTAGGGGGG	0.562																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5137-5139)cCt>cAt		ryanodine receptor 3							74.0	80.0	78.0					15																	33954869		2081	4238	6319	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954869C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5138C>A	15.37:g.33954869C>A	ENSP00000373884:p.Pro1713His					RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	p.P1713H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5208	+		all_lung(180;7.18e-09)	1713			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5138C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351827	0.82132	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74737	-0.87;-0.87	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	D	0.88336	0.2971	10	0.87932	D	0	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1713;1713	Q15413-2;Q15413	.;RYR3_HUMAN	H	1713	ENSP00000373884:P1713H;ENSP00000399610:P1713H	ENSP00000354735:P1713H	P	+	2	0	RYR3	31742161	1.000000	0.71417	0.970000	0.41538	0.818000	0.46254	7.411000	0.80078	2.826000	0.97356	0.655000	0.94253	CCT		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			74	280	1	0	3.1711e-36	1	3.79393e-36	74	280				
ELSPBP1	64100	broad.mit.edu	37	19	48523002	48523002	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48523002C>A	ENST00000339841.2	+	5	560	c.382C>A	c.(382-384)Ccc>Acc	p.P128T	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	128	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTCAGGAAGCCCTGCATCTT	0.443																																						ENST00000339841.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(382-384)Ccc>Acc		epididymal sperm binding protein 1							89.0	83.0	85.0					19																	48523002		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48523002C>A	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.382C>A	19.37:g.48523002C>A	ENSP00000340660:p.Pro128Thr					ELSPBP1_ENST00000597519.1_Intron	p.P128T	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	5	560	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	128			Fibronectin type-II 3.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.382C>A	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535607	0.27475	.	.	ENSG00000169393	ENST00000339841	T	0.09911	2.93	3.76	2.71	0.32032	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.128105	0.35320	N	0.003283	T	0.13756	0.0333	M	0.87758	2.905	0.26877	N	0.967623	P	0.39551	0.678	B	0.30572	0.117	T	0.20140	-1.0284	10	0.62326	D	0.03	.	7.6932	0.28579	0.0:0.8752:0.0:0.1248	.	128	Q96BH3	ESPB1_HUMAN	T	128	ENSP00000340660:P128T	ENSP00000340660:P128T	P	+	1	0	ELSPBP1	53214814	0.996000	0.38824	0.998000	0.56505	0.504000	0.33889	0.777000	0.26718	0.870000	0.35726	0.561000	0.74099	CCC		0.443	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			17	296	1	0	0.00074312	1	0.000751657	17	296				
SLC52A2	79581	broad.mit.edu	37	8	145584110	145584110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584110G>A	ENST00000532887.1	+	3	1541	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	SLC52A2_ENST00000329994.2_Missense_Mutation_p.A320T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A320T|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A320T|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A232T			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	320					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GGGCAGTGCTGCCAATCCCCT	0.657																																						ENST00000532887.1																			0											c.(958-960)Gcc>Acc		solute carrier family 52 (riboflavin transporter), member 2							76.0	73.0	74.0					8																	145584110		2200	4293	6493	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584110G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.958G>A	8.37:g.145584110G>A	ENSP00000436768:p.Ala320Thr					SLC52A2_ENST00000402965.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A320T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A320T|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A232T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A320T	p.A320T			Q9HAB3	RFT3_HUMAN			3	1541	+			320					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.958G>A	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202481	0.79127	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	4.69	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.77103	2.36	0.80722	D	1	B	0.30193	0.272	B	0.38842	0.283	T	0.81226	-0.1029	10	0.52906	T	0.07	.	11.9871	0.53153	0.0:0.0:0.827:0.173	.	320	Q9HAB3	RFT3_HUMAN	T	320;320;156;320;320;320;232	ENSP00000435820:A320T;ENSP00000434728:A320T;ENSP00000433583:A156T;ENSP00000385961:A320T;ENSP00000436768:A320T;ENSP00000333638:A320T;ENSP00000440400:A232T	ENSP00000333638:A320T	A	+	1	0	GPR172A	145554918	1.000000	0.71417	0.920000	0.36463	0.992000	0.81027	5.483000	0.66838	2.152000	0.67230	0.462000	0.41574	GCC		0.657	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		116	567	0	0	0	1	0	116	567				
FAT4	79633	broad.mit.edu	37	4	126242165	126242165	+	Silent	SNP	C	C	T	rs371858685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242165C>T	ENST00000394329.3	+	1	4612	c.4599C>T	c.(4597-4599)aaC>aaT	p.N1533N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1533	Cadherin 15. {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						TATCACAAAACGCCCTTGCTG	0.433																																						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.(4597-4599)aaC>aaT		FAT atypical cadherin 4		C		0,3912		0,0,1956	160.0	148.0	152.0		4599	-7.1	0.9	4		152	1,8305		0,1,4152	no	coding-synonymous	FAT4	NM_024582.4		0,1,6108	TT,TC,CC		0.012,0.0,0.0082		1533/4982	126242165	1,12217	1956	4153	6109	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242165C>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.4599C>T	4.37:g.126242165C>T							p.N1533N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4612	+			1533			Cadherin 15.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4599C>T	CCDS3732.3																																																																																				0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		166	750	0	0	0	1	0	166	750				
DNHD1	144132	broad.mit.edu	37	11	6587919	6587919	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6587919A>G	ENST00000527990.2	+	33	11309	c.11309A>G	c.(11308-11310)tAt>tGt	p.Y3770C	DNHD1_ENST00000254579.6_Missense_Mutation_p.Y3770C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3770					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAGAGAGTATCCTGAACTC	0.527																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(11308-11310)tAt>tGt		dynein heavy chain domain 1							86.0	87.0	86.0					11																	6587919		2028	4186	6214	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6587919A>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11309A>G	11.37:g.6587919A>G	ENSP00000436180:p.Tyr3770Cys					DNHD1_ENST00000527990.2_Missense_Mutation_p.Y3770C	p.Y3770C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	35	11873	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3770					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11309A>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	9.228	1.035064	0.19590	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.25749	1.78;1.78	4.52	1.55	0.23275	.	1.253460	0.05804	N	0.612835	T	0.12561	0.0305	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29212	-1.0019	10	0.87932	D	0	3.8543	5.9195	0.19073	0.1776:0.1562:0.6662:0.0	.	2858;38;3770	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	C	3770;3770;38;38	ENSP00000254579:Y3770C;ENSP00000436180:Y3770C	ENSP00000254579:Y3770C	Y	+	2	0	DNHD1	6544495	0.009000	0.17119	0.015000	0.15790	0.045000	0.14185	0.726000	0.25984	0.234000	0.21139	-0.146000	0.13790	TAT		0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		15	78	0	0	0	1	0	15	78				
LRFN5	145581	broad.mit.edu	37	14	42356731	42356731	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356731A>G	ENST00000298119.4	+	3	2092	c.903A>G	c.(901-903)ggA>ggG	p.G301G	LRFN5_ENST00000554171.1_Silent_p.G301G|LRFN5_ENST00000554120.1_Silent_p.G301G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	301	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGGAGGGACAAAGGGCAA	0.468										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(901-903)ggA>ggG		leucine rich repeat and fibronectin type III domain containing 5							111.0	106.0	107.0					14																	42356731		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356731A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.903A>G	14.37:g.42356731A>G		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.G301G|LRFN5_ENST00000298119.4_Silent_p.G301G	p.G301G			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3335	+			301			Ig-like.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.903A>G	CCDS9678.1																																																																																				0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		104	416	0	0	0	1	0	104	416				
KIAA1109	84162	broad.mit.edu	37	4	123258035	123258035	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258035G>A	ENST00000264501.4	+	71	12383		c.e71-1		KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTTTAAACAGCTGTCAGCTC	0.323																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.e71-1		KIAA1109							120.0	103.0	108.0					4																	123258035		1828	4081	5909	SO:0001630	splice_region_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123258035G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12011-1G>A	4.37:g.123258035G>A						KIAA1109_ENST00000388738.3_Splice_Site				Q2LD37	K1109_HUMAN			71	12383	+								Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Splice_Site	SNP	ENST00000264501.4	37		CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741598	0.69304	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000306802	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4524	0.61178	0.0754:0.0:0.9246:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1109	123477485	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.411000	0.80078	2.530000	0.85305	0.467000	0.42956	.		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Intron	55	218	0	0	0	1	0	55	218				
ZIC2	7546	broad.mit.edu	37	13	100637299	100637299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637299C>A	ENST00000376335.3	+	2	1468	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	392					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCGATAAGCCCTATCTCTGC	0.632																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1174-1176)cCc>cAc		Zic family member 2							150.0	124.0	132.0					13																	100637299		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637299C>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1175C>A	13.37:g.100637299C>A	ENSP00000365514:p.Pro392His					ZIC2_ENST00000477213.1_3'UTR	p.P392H	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			2	1468	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		392					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1175C>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896693	0.91962	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.17528	2.27	4.09	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54227	-0.8325	10	0.87932	D	0	.	15.5713	0.76341	0.0:1.0:0.0:0.0	.	392	O95409	ZIC2_HUMAN	H	392;141	ENSP00000365514:P392H	ENSP00000365514:P392H	P	+	2	0	ZIC2	99435300	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.553000	0.82203	2.241000	0.73720	0.655000	0.94253	CCC		0.632	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		69	458	1	0	1.42748e-55	1	1.78476e-55	69	458				
ZNF19	7567	broad.mit.edu	37	16	71510112	71510112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71510112C>A	ENST00000288177.5	-	6	593	c.338G>T	c.(337-339)gGg>gTg	p.G113V	ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V|ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGACATCATCCCATCTCTTTC	0.428																																						ENST00000288177.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22						c.(337-339)gGg>gTg		zinc finger protein 19							113.0	101.0	105.0					16																	71510112		2198	4300	6498	SO:0001583	missense	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71510112C>A	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.338G>T	16.37:g.71510112C>A	ENSP00000288177:p.Gly113Val					AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V|ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V	p.G113V	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	593	-		Ovarian(137;0.00965)	113					A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.338G>T	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	5.104	0.204858	0.09704	.	.	ENSG00000157429	ENST00000288177	T	0.05258	3.47	3.0	-2.25	0.06888	.	2.866660	0.01468	N	0.016151	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.27785	T	0.31	.	6.4821	0.22069	0.3951:0.5005:0.1045:0.0	.	113	P17023	ZNF19_HUMAN	V	113	ENSP00000288177:G113V	ENSP00000288177:G113V	G	-	2	0	ZNF19	70067613	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.648000	0.00859	-0.534000	0.06315	-0.397000	0.06425	GGG		0.428	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		41	234	1	0	8.69298e-16	1	9.51602e-16	41	234				
TWISTNB	221830	broad.mit.edu	37	7	19744544	19744544	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19744544C>T	ENST00000222567.5	-	2	325		c.e2-1		MIR3146_ENST00000580367.1_RNA	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor						transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ACCTAAAAGGCTGTAAAAAGA	0.368																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.e2-1		TWIST neighbor							66.0	67.0	67.0					7																	19744544		2203	4300	6503	SO:0001630	splice_region_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19744544C>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.255-1G>A	7.37:g.19744544C>T								NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			2	325	-								A0PJ45|B7Z724	Splice_Site	SNP	ENST00000222567.5	37		CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533348	0.45073	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3533	0.90345	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TWISTNB	19711069	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.716000	0.74702	2.531000	0.85337	0.655000	0.94253	.		0.368	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1		Intron	42	207	0	0	0	1	0	42	207				
GABPA	2551	broad.mit.edu	37	21	27141374	27141374	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27141374T>G	ENST00000354828.3	+	10	1723	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	399					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GTGTACAAGTTTGTCTGTGAC	0.363																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(1195-1197)tTt>tGt		GA binding protein transcription factor, alpha subunit 60kDa							103.0	108.0	107.0					21																	27141374		2203	4300	6503	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27141374T>G		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1196T>G	21.37:g.27141374T>G	ENSP00000346886:p.Phe399Cys					GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	p.F399C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			10	1723	+			399					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.1196T>G	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846514	0.71603	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.36699	1.24;1.24	5.87	5.87	0.94306	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.046101	0.85682	D	0.000000	T	0.73458	0.3589	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83257	-0.0050	10	0.87932	D	0	.	15.9351	0.79698	0.0:0.0:0.0:1.0	.	399	Q06546	GABPA_HUMAN	C	399	ENSP00000346886:F399C;ENSP00000382948:F399C	ENSP00000346886:F399C	F	+	2	0	GABPA	26063245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	2.247000	0.74100	0.477000	0.44152	TTT		0.363	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		167	714	0	0	0	1	0	167	714				
TNFSF9	8744	broad.mit.edu	37	19	6534897	6534897	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6534897G>A	ENST00000245817.3	+	3	623	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	195					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCGGAACTCGGCCTTCGGTT	0.692																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(583-585)tcG>tcA		tumor necrosis factor (ligand) superfamily, member 9							14.0	17.0	16.0					19																	6534897		2186	4283	6469	SO:0001819	synonymous_variant	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6534897G>A	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.585G>A	19.37:g.6534897G>A							p.S195S	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			3	623	+			195					Q2M3S2	Silent	SNP	ENST00000245817.3	37	c.585G>A	CCDS12169.1																																																																																				0.692	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		36	84	0	0	0	1	0	36	84				
UBTD1	80019	broad.mit.edu	37	10	99330200	99330200	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99330200A>G	ENST00000370664.3	+	3	940	c.604A>G	c.(604-606)Aca>Gca	p.T202A	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	202	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CACAGACCGCACACGGCTCCA	0.627																																					Pancreas(100;169 2668 32720)	ENST00000370664.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(604-606)Aca>Gca		ubiquitin domain containing 1							47.0	45.0	46.0					10																	99330200		2203	4300	6503	SO:0001583	missense	80019							g.chr10:99330200A>G	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.604A>G	10.37:g.99330200A>G	ENSP00000359698:p.Thr202Ala						p.T202A	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	3	940	+		Colorectal(252;0.162)	202			Ubiquitin-like.		D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	c.604A>G	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692848	0.30052	.	.	ENSG00000165886	ENST00000370664	T	0.74421	-0.84	5.73	5.73	0.89815	Ubiquitin supergroup (1);Ubiquitin (2);	0.143055	0.64402	D	0.000006	T	0.70456	0.3226	L	0.42245	1.32	0.38786	D	0.954884	P	0.44986	0.847	P	0.46510	0.519	T	0.68262	-0.5455	10	0.08381	T	0.77	-5.7565	16.0082	0.80377	1.0:0.0:0.0:0.0	.	202	Q9HAC8	UBTD1_HUMAN	A	202	ENSP00000359698:T202A	ENSP00000359698:T202A	T	+	1	0	UBTD1	99320190	1.000000	0.71417	0.949000	0.38748	0.004000	0.04260	7.576000	0.82467	2.324000	0.78689	0.533000	0.62120	ACA		0.627	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		69	310	0	0	0	1	0	69	310				
ZNF550	162972	broad.mit.edu	37	19	58059348	58059348	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58059348T>G	ENST00000457177.1	-	4	444	c.264A>C	c.(262-264)caA>caC	p.Q88H	ZNF550_ENST00000325134.5_Missense_Mutation_p.Q56H|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTATGAACTTGTGCTCTGT	0.448																																						ENST00000325134.5																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(166-168)caA>caC		zinc finger protein 550							77.0	79.0	78.0					19																	58059348		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58059348T>G	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.264A>C	19.37:g.58059348T>G	ENSP00000469679:p.Gln88His					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H|ZNF550_ENST00000457177.1_Missense_Mutation_p.Q88H	p.Q56H			Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	324	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	88			KRAB.		B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.168A>C		.	.	.	.	.	.	.	.	.	.	T	13.70	2.314786	0.40996	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.22743	1.94;1.94	3.72	1.54	0.23209	.	.	.	.	.	T	0.16085	0.0387	L	0.32530	0.975	0.09310	N	1	P	0.39624	0.681	B	0.41946	0.371	T	0.16276	-1.0408	9	0.56958	D	0.05	.	3.8379	0.08902	0.0:0.1185:0.2194:0.6621	.	56	Q7Z398-2	.	H	88;56;47	ENSP00000446224:Q56H;ENSP00000422344:Q47H	ENSP00000446224:Q56H	Q	-	3	2	AC003682.1	62751160	0.000000	0.05858	0.001000	0.08648	0.123000	0.20343	-0.094000	0.11094	0.138000	0.18790	0.533000	0.62120	CAA		0.448	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		111	523	0	0	0	1	0	111	523				
HPSE2	60495	broad.mit.edu	37	10	100503711	100503711	+	Missense_Mutation	SNP	C	C	T	rs138827531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100503711C>T	ENST00000370552.3	-	4	772	c.713G>A	c.(712-714)aGt>aAt	p.S238N	HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	238					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCACTAGAACTGTTCCAGGA	0.423																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(712-714)aGt>aAt		heparanase 2		C	,,ASN/SER,ASN/SER	0,4406		0,0,2203	135.0	128.0	131.0		,,713,713	5.7	1.0	10	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	,,46,46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,possibly-damaging,possibly-damaging	,,238/549,238/593	100503711	1,13005	2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100503711C>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.713G>A	10.37:g.100503711C>T	ENSP00000359583:p.Ser238Asn					HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N|HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Intron	p.S238N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	4	772	-			238					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.713G>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314871	0.60524	0.0	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.32988	1.43;1.43	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050078	0.85682	D	0.000000	T	0.32102	0.0818	L	0.38175	1.15	0.80722	D	1	P;P	0.37914	0.557;0.611	B;B	0.40165	0.215;0.321	T	0.01715	-1.1289	10	0.35671	T	0.21	-10.7404	20.1554	0.98111	0.0:1.0:0.0:0.0	.	238;238	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	N	238	ENSP00000359583:S238N;ENSP00000359577:S238N	ENSP00000359577:S238N	S	-	2	0	HPSE2	100493701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.894000	0.69806	2.838000	0.97847	0.591000	0.81541	AGT		0.423	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		103	441	0	0	0	1	0	103	441				
ACTL9	284382	broad.mit.edu	37	19	8808354	8808354	+	Missense_Mutation	SNP	G	G	A	rs372877504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808354G>A	ENST00000324436.3	-	1	818	c.698C>T	c.(697-699)gCg>gTg	p.A233V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	233						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCATCTCCGCCAGGAAGGC	0.642																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(697-699)gCg>gTg		actin-like 9		T	VAL/ALA	0,4406		0,0,2203	37.0	37.0	37.0		698	2.4	0.6	19		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTL9	NM_178525.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	233/417	8808354	1,13005	2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808354G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.698C>T	19.37:g.8808354G>A	ENSP00000316674:p.Ala233Val						p.A233V	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	818	-			233					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.698C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	9.926	1.213504	0.22289	0.0	1.16E-4	ENSG00000181786	ENST00000324436	T	0.08282	3.11	4.55	2.42	0.29668	.	0.160511	0.29126	N	0.013065	T	0.06096	0.0158	L	0.33624	1.015	0.25170	N	0.990285	B	0.24721	0.11	B	0.24269	0.052	T	0.29549	-1.0008	10	0.72032	D	0.01	.	4.2869	0.10858	0.1871:0.0:0.6302:0.1827	.	233	Q8TC94	ACTL9_HUMAN	V	233	ENSP00000316674:A233V	ENSP00000316674:A233V	A	-	2	0	ACTL9	8669354	0.988000	0.35896	0.619000	0.29118	0.075000	0.17131	3.158000	0.50723	0.676000	0.31285	-0.358000	0.07595	GCG		0.642	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		61	219	0	0	0	1	0	61	219				
WDR24	84219	broad.mit.edu	37	16	737187	737187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737187G>A	ENST00000248142.6	-	7	1278	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Nonsense_Mutation_p.R297*|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	427										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGACGTCTCGGTGTTCCTCA	0.637																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(889-891)Cga>Tga		WD repeat domain 24							46.0	52.0	50.0					16																	737187		2199	4300	6499	SO:0001587	stop_gained	84219							g.chr16:737187G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1279C>T	16.37:g.737187G>A	ENSP00000248142:p.Arg427*					WDR24_ENST00000248142.6_Nonsense_Mutation_p.R427*	p.R297*	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	1648	-		Hepatocellular(780;0.0218)	427					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Nonsense_Mutation	SNP	ENST00000248142.6	37	c.889C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.683699	0.98914	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	.	.	.	4.55	4.55	0.56014	.	0.067073	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-16.6398	10.3454	0.43903	0.0:0.0:0.7036:0.2964	.	.	.	.	X	427;297	.	ENSP00000248142:R427X	R	-	1	2	WDR24	677188	1.000000	0.71417	0.993000	0.49108	0.424000	0.31475	6.039000	0.70972	2.513000	0.84729	0.655000	0.94253	CGA		0.637	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		57	277	0	0	0	1	0	57	277				
PLEKHG4B	153478	broad.mit.edu	37	5	182382	182382	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:182382G>A	ENST00000283426.6	+	18	3810	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1254							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCACCCAGGCTGCAGTGTG	0.622																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3760-3762)Gct>Act		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							21.0	22.0	22.0					5																	182382		2203	4299	6502	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182382G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3760G>A	5.37:g.182382G>A	ENSP00000283426:p.Ala1254Thr						p.A1254T	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3810	+			1254						Missense_Mutation	SNP	ENST00000283426.6	37	c.3760G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997387	0.35226	.	.	ENSG00000153404	ENST00000283426	T	0.30448	1.53	3.55	1.64	0.23874	.	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.26396	N	0.976497	P	0.43477	0.808	B	0.30179	0.112	T	0.06625	-1.0816	9	0.72032	D	0.01	.	9.5746	0.39450	0.0:0.6027:0.3972:0.0	.	1254	Q96PX9	PKH4B_HUMAN	T	1254	ENSP00000283426:A1254T	ENSP00000283426:A1254T	A	+	1	0	PLEKHG4B	235382	1.000000	0.71417	0.112000	0.21494	0.010000	0.07245	2.491000	0.45303	0.020000	0.15106	-0.499000	0.04595	GCT		0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		32	126	0	0	0	1	0	32	126				
CDYL2	124359	broad.mit.edu	37	16	80718807	80718807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718807G>A	ENST00000570137.2	-	2	399	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	82						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GACGGGCCTCGACTGTCACGC	0.522																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(244-246)Cga>Tga		chromodomain protein, Y-like 2							111.0	94.0	100.0					16																	80718807		2203	4300	6503	SO:0001587	stop_gained	124359					nucleus	catalytic activity|protein binding	g.chr16:80718807G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.244C>T	16.37:g.80718807G>A	ENSP00000476295:p.Arg82*					CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*	p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	399	-			82					Q7Z5I8	Nonsense_Mutation	SNP	ENST00000570137.2	37	c.244C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819058	0.50633	.	.	ENSG00000166446	ENST00000299564	.	.	.	5.23	4.27	0.50696	.	0.259870	0.33235	N	0.005121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7971	0.57565	0.0:0.0:0.8366:0.1634	.	.	.	.	X	82	.	ENSP00000299564:R82X	R	-	1	2	CDYL2	79276308	1.000000	0.71417	0.231000	0.23993	0.080000	0.17528	2.062000	0.41413	1.407000	0.46875	0.655000	0.94253	CGA		0.522	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		75	338	0	0	0	1	0	75	338				
ATP8B1	5205	broad.mit.edu	37	18	55362414	55362414	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55362414A>G	ENST00000283684.4	-	9	928	c.929T>C	c.(928-930)gTc>gCc	p.V310A	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.V310A|ATP8B1_ENST00000589147.1_5'Flank|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	310					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGCAAAAATGACTAAGCCGTG	0.388																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(928-930)gTc>gCc		ATPase, aminophospholipid transporter, class I, type 8B, member 1							77.0	76.0	76.0					18																	55362414		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55362414A>G	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.929T>C	18.37:g.55362414A>G	ENSP00000283684:p.Val310Ala					RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.V310A	p.V310A	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			10	1048	-		Colorectal(73;0.229)	310					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.929T>C	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690660	0.68271	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.95342	-3.68;-3.68	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121704	0.53938	D	0.000042	D	0.93184	0.7829	L	0.55834	1.745	0.80722	D	1	P	0.40000	0.698	B	0.41174	0.349	D	0.93818	0.7116	10	0.87932	D	0	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	310	O43520	AT8B1_HUMAN	A	310	ENSP00000283684:V310A;ENSP00000445359:V310A	ENSP00000283684:V310A	V	-	2	0	ATP8B1	53513412	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.100000	0.94213	2.025000	0.59659	0.533000	0.62120	GTC		0.388	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		54	220	0	0	0	1	0	54	220				
ZNF229	7772	broad.mit.edu	37	19	44932978	44932978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44932978C>A	ENST00000588931.1	-	6	2411	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	ZNF229_ENST00000291187.4_Nonsense_Mutation_p.E654*|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTCCGCACTCTTGGCATCTG	0.498																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1960-1962)Gag>Tag		zinc finger protein 229							122.0	123.0	123.0					19																	44932978		2156	4278	6434	SO:0001587	stop_gained	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932978C>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1978G>T	19.37:g.44932978C>A	ENSP00000466519:p.Glu660*					ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Nonsense_Mutation_p.E660*	p.E654*	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	2282	-		Prostate(69;0.0352)	660					B2RWN3|Q59FV2|Q86WL9	Nonsense_Mutation	SNP	ENST00000588931.1	37	c.1960G>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	38	7.183847	0.98121	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-0.111	0.13576	.	.	.	.	.	.	.	.	.	.	.	0.46981	D	0.999279	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.1241	0.14875	0.165:0.6371:0.0:0.1979	.	.	.	.	X	660	.	ENSP00000291187:E660X	E	-	1	0	ZNF229	49624818	0.000000	0.05858	0.013000	0.15412	0.053000	0.15095	0.147000	0.16202	0.108000	0.17862	-0.208000	0.12717	GAG		0.498	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		36	629	1	0	2.20474e-14	1	2.39557e-14	36	629				
MYH14	79784	broad.mit.edu	37	19	50804952	50804952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50804952G>A	ENST00000596571.1	+	37	5381	c.5381G>A	c.(5380-5382)cGc>cAc	p.R1794H	MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H|MYH14_ENST00000440075.2_Missense_Mutation_p.R1835H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1794					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCAGCTGAGCGCAGTTTCTCA	0.612																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5503-5505)cGc>cAc		myosin, heavy chain 14, non-muscle							40.0	45.0	44.0					19																	50804952		2062	4227	6289	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50804952G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5381G>A	19.37:g.50804952G>A	ENSP00000472819:p.Arg1794His					MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000596571.1_Missense_Mutation_p.R1794H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H	p.R1835H			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	40	5551	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1794					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5504G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888252	0.91814	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	4.08	4.08	0.47627	Myosin tail (1);	.	.	.	.	D	0.89570	0.6753	M	0.82630	2.6	0.47905	D	0.999542	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91176	0.4972	9	0.87932	D	0	.	14.1423	0.65327	0.0:0.0:1.0:0.0	.	1835;1794;1802	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1835;1827;1802;1578;1835	ENSP00000406273:R1835H;ENSP00000366169:R1827H;ENSP00000407879:R1802H;ENSP00000262269:R1835H	ENSP00000262269:R1835H	R	+	2	0	MYH14	55496764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.594000	0.82698	2.274000	0.75844	0.591000	0.81541	CGC		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		45	242	0	0	0	1	0	45	242				
NADSYN1	55191	broad.mit.edu	37	11	71208551	71208551	+	Missense_Mutation	SNP	C	C	T	rs371881712		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71208551C>T	ENST00000319023.2	+	19	1975	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V|NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	596	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	ATGACATATGCGGAGCTCTCG	0.527																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1786-1788)gCg>gTg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C	VAL/ALA	1,4399		0,1,2199	118.0	115.0	116.0		1787	2.7	0.0	11		116	0,8588		0,0,4294	no	missense	NADSYN1	NM_018161.4	64	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	benign	596/707	71208551	1,12987	2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71208551C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1787C>T	11.37:g.71208551C>T	ENSP00000326424:p.Ala596Val					NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V|NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V	p.A596V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			19	1975	+			596			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1787C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	.	9.137	1.012864	0.19277	2.27E-4	0.0	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.45276	0.9;0.9;0.9	4.81	2.69	0.31865	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.853139	0.10244	N	0.697976	T	0.46814	0.1412	M	0.83012	2.62	0.09310	N	0.999998	B;B	0.21452	0.056;0.031	B;B	0.23419	0.046;0.037	T	0.44467	-0.9326	10	0.46703	T	0.11	-9.3763	8.6767	0.34183	0.1614:0.7441:0.0:0.0945	.	336;596	B3KUU4;Q6IA69	.;NADE_HUMAN	V	596;336;225	ENSP00000326424:A596V;ENSP00000443718:A336V;ENSP00000431820:A225V	ENSP00000326424:A596V	A	+	2	0	NADSYN1	70886199	0.023000	0.18921	0.003000	0.11579	0.111000	0.19643	2.339000	0.43965	1.031000	0.39867	0.591000	0.81541	GCG		0.527	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		25	212	0	0	0	1	0	25	212				
SVEP1	79987	broad.mit.edu	37	9	113312282	113312282	+	Nonsense_Mutation	SNP	G	G	A	rs368175556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312282G>A	ENST00000401783.2	-	2	970	c.634C>T	c.(634-636)Cga>Tga	p.R212*	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	212	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGAATCTCGCAGTGACGCT	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(634-636)Cga>Tga		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							145.0	141.0	142.0					9																	113312282		1941	4157	6098	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312282G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.634C>T	9.37:g.113312282G>A	ENSP00000384917:p.Arg212*					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*	p.R212*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	970	-			212			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.634C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	40	8.528289	0.98850	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.5	-6.26E-4	0.14038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5394	0.84381	0.0:0.0:0.4206:0.5794	.	.	.	.	X	212;189;212;189	.	ENSP00000304118:R212X	R	-	1	2	SVEP1	112352103	1.000000	0.71417	0.419000	0.26584	0.646000	0.38490	2.723000	0.47277	-0.197000	0.10350	0.563000	0.77884	CGA		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				111	370	0	0	0	1	0	111	370				
TNK2	10188	broad.mit.edu	37	3	195593780	195593780	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593780G>A	ENST00000333602.6	-	14	3707	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000392400.1_Silent_p.S1030S|TNK2_ENST00000381916.2_Silent_p.S1078S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1030				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGGGCCCCAGGAGCCCAGAA	0.672																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(3088-3090)tcC>tcT		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						24.0	29.0	27.0					3																	195593780		2195	4297	6492	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195593780G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3090C>T	3.37:g.195593780G>A						TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000381916.2_Silent_p.S1078S|TNK2_ENST00000392400.1_Silent_p.S1030S	p.S1030S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	14	3707	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1030	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.3090C>T	CCDS33928.1																																																																																				0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		13	90	0	0	0	1	0	13	90				
CUX2	23316	broad.mit.edu	37	12	111776115	111776115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111776115C>T	ENST00000261726.6	+	20	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1074					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGAAAGCATCCTGGGTCTGA	0.622																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3220-3222)atC>atT		cut-like homeobox 2							48.0	54.0	52.0					12																	111776115		1954	4155	6109	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111776115C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3222C>T	12.37:g.111776115C>T							p.I1074I	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			20	3376	+			1074					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.3222C>T	CCDS41837.1																																																																																				0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		51	328	0	0	0	1	0	51	328				
AGFG2	3268	broad.mit.edu	37	7	100161557	100161557	+	Silent	SNP	G	G	A	rs35771030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100161557G>A	ENST00000300176.4	+	10	1394	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	424	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTCCCCCCGCAGACCCCGC	0.602											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0014	5008	,	,		19163	0.0		0.001	False		,,,				2504	0.0					ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1270-1272)ccG>ccA		ArfGAP with FG repeats 2		G		2,4404	4.2+/-10.8	0,2,2201	68.0	75.0	72.0		1272	-2.2	0.0	7	dbSNP_126	72	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	AGFG2	NM_006076.4		0,10,6493	AA,AG,GG		0.093,0.0454,0.0769		424/482	100161557	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100161557G>A	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1272G>A	7.37:g.100161557G>A			OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	p.P424P	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			10	1394	+			424			Pro-rich.		O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.1272G>A	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300818	0.01364	4.54E-4	9.3E-4	ENSG00000106351	ENST00000429987	.	.	.	4.34	-2.18	0.07037	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.24692	N	0.993301	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-47.8848	8.5987	0.33732	0.6053:0.0:0.3947:0.0	rs35771030	.	.	.	H	166	.	.	R	+	2	0	AGFG2	99999493	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.375000	0.02563	-0.607000	0.05738	-1.188000	0.01700	CGC		0.602	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		123	493	0	0	0	1	0	123	493				
SH3PXD2A	9644	broad.mit.edu	37	10	105362601	105362601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362601G>T	ENST00000369774.4	-	15	2650	c.2374C>A	c.(2374-2376)Ctc>Atc	p.L792I	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	792					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAGCCCTTGAGCCCTCCACGG	0.612																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2374-2376)Ctc>Atc		SH3 and PX domains 2A							182.0	183.0	183.0					10																	105362601		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362601G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2374C>A	10.37:g.105362601G>T	ENSP00000358789:p.Leu792Ile					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I|SH3PXD2A_ENST00000427662.2_Intron	p.L792I			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2650	-		Colorectal(252;0.0815)|Breast(234;0.131)	792					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2374C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.862342|1.862342	0.32884|0.32884	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.59224	.|0.39;0.33;0.49;0.28	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.056930	.|0.64402	.|D	.|0.000001	T|T	0.66761|0.66761	0.2822|0.2822	L|L	0.32530|0.32530	0.975|0.975	0.37370|0.37370	D|D	0.911607|0.911607	.|D;D;D;D	.|0.71674	.|0.997;0.997;0.998;0.998	.|D;D;D;D	.|0.77557	.|0.978;0.978;0.984;0.99	T|T	0.66842|0.66842	-0.5821|-0.5821	5|10	.|0.27785	.|T	.|0.31	-25.5521|-25.5521	18.5141|18.5141	0.90930|0.90930	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|792;641;637;764	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	D|I	718|792;764;599;707;659;627	.|ENSP00000358789:L792I;ENSP00000348215:L764I;ENSP00000443663:L659I;ENSP00000441514:L627I	.|ENSP00000318135:L599I	A|L	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352591|105352591	0.997000|0.997000	0.39634|0.39634	0.974000|0.974000	0.42286|0.42286	0.356000|0.356000	0.29392|0.29392	2.362000|2.362000	0.44169|0.44169	2.373000|2.373000	0.80994|0.80994	0.555000|0.555000	0.69702|0.69702	GCT|CTC		0.612	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		259	1138	1	0	5.1204e-76	1	6.53267e-76	259	1138				
TRIM59	286827	broad.mit.edu	37	3	160156199	160156199	+	Missense_Mutation	SNP	C	C	T	rs142551772	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156199C>T	ENST00000309784.4	-	3	958	c.773G>A	c.(772-774)cGc>cAc	p.R258H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H|TRIM59_ENST00000543469.1_Missense_Mutation_p.R258H	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	258					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACATGCTGGCGTACATCATC	0.378													C|||	3	0.000599042	0.0	0.0	5008	,	,		17942	0.0		0.0	False		,,,				2504	0.0031					ENST00000543469.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(772-774)cGc>cAc		tripartite motif containing 59		C	HIS/ARG	0,4406		0,0,2203	98.0	103.0	101.0		773	4.9	0.8	3	dbSNP_134	101	3,8595	3.0+/-9.4	0,3,4296	yes	missense	TRIM59	NM_173084.2	29	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	258/404	160156199	3,13001	2203	4299	6502	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156199C>T	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.773G>A	3.37:g.160156199C>T	ENSP00000311219:p.Arg258His					TRIM59_ENST00000309784.4_Missense_Mutation_p.R258H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H	p.R258H			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	987	-			258					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.773G>A	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971880	0.53614	0.0	3.49E-4	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.25749	1.99;1.78	5.77	4.89	0.63831	.	0.109676	0.64402	D	0.000014	T	0.18467	0.0443	L	0.33485	1.01	0.33875	D	0.635472	B	0.26041	0.14	B	0.17722	0.019	T	0.14671	-1.0464	9	.	.	.	-13.8692	12.589	0.56434	0.0:0.8694:0.0:0.1306	.	258	Q8IWR1	TRI59_HUMAN	H	258	ENSP00000444313:R258H;ENSP00000311219:R258H	.	R	-	2	0	TRIM59	161638893	0.155000	0.22806	0.804000	0.32291	0.439000	0.31926	1.478000	0.35442	2.724000	0.93272	0.561000	0.74099	CGC		0.378	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		116	524	0	0	0	1	0	116	524				
PIPSL	266971	broad.mit.edu	37	10	95719394	95719394	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95719394C>A	ENST00000480546.1	-	0	1903					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GTGATTGTTGCCTTGTCGGTG	0.517																																						ENST00000480546.1																			0																																																			0							g.chr10:95719394C>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719394C>A								NR_002319.2						0	1903	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.517	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		22	105	1	0	1.87028e-06	1	1.92935e-06	22	105				
OR6C3	254786	broad.mit.edu	37	12	55725792	55725792	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55725792T>C	ENST00000379667.1	+	1	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	103					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTTTATCTTCATGGGGGTG	0.418																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(307-309)tTc>tCc		olfactory receptor, family 6, subfamily C, member 3							99.0	104.0	103.0					12																	55725792		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725792T>C	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.308T>C	12.37:g.55725792T>C	ENSP00000368989:p.Phe103Ser						p.F103S	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	308	+			103						Missense_Mutation	SNP	ENST00000379667.1	37	c.308T>C	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	T	6.994	0.553566	0.13374	.	.	ENSG00000205329	ENST00000379667	T	0.00330	8.08	5.18	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.131035	0.34802	N	0.003677	T	0.00144	0.0004	N	0.13272	0.32	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.40997	-0.9533	10	0.48119	T	0.1	.	3.5933	0.07997	0.2892:0.1431:0.0:0.5677	.	103	Q9NZP0	OR6C3_HUMAN	S	103	ENSP00000368989:F103S	ENSP00000368989:F103S	F	+	2	0	OR6C3	54012059	0.000000	0.05858	0.007000	0.13788	0.448000	0.32197	0.456000	0.21859	0.458000	0.26988	0.478000	0.44815	TTC		0.418	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			141	596	0	0	0	1	0	141	596				
ETNK2	55224	broad.mit.edu	37	1	204109165	204109165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204109165G>A	ENST00000367202.4	-	5	1016	c.866C>T	c.(865-867)gCa>gTa	p.A289V	ETNK2_ENST00000367199.2_Missense_Mutation_p.A220V|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V|RP11-74C13.3_ENST00000433869.1_RNA	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	289					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTCACCTGCAAACTCATT	0.428																																						ENST00000367199.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(658-660)gCa>gTa		ethanolamine kinase 2							162.0	136.0	145.0					1																	204109165		2203	4300	6503	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204109165G>A	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.866C>T	1.37:g.204109165G>A	ENSP00000356170:p.Ala289Val					ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V|ETNK2_ENST00000367202.4_Missense_Mutation_p.A289V|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V	p.A220V			Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		4	1069	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		289					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.659C>T	CCDS1442.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.679705|5.679705	0.96774|0.96774	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817|ENST00000422072	T;T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23;0.23;0.23;0.23|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76891|.	0.4051|.	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.994;1.0;1.0|.	P;D;D|.	0.85130|.	0.88;0.996;0.997|.	T|.	0.77362|.	-0.2616|.	10|.	0.46703|.	T|.	0.11|.	-22.5584|-22.5584	16.9596|16.9596	0.86269|0.86269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	248;289;289|.	Q9NVF9-3;Q9NVF9;Q9NVF9-2|.	.;EKI2_HUMAN;.|.	V|X	289;289;220;155;111;155;146;135|52	ENSP00000356169:A289V;ENSP00000356170:A289V;ENSP00000356167:A220V;ENSP00000356166:A111V;ENSP00000405497:A155V;ENSP00000398091:A146V;ENSP00000406241:A135V|.	ENSP00000356166:A111V|.	A|Q	-|-	2|1	0|0	ETNK2|ETNK2	202375788|202375788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.928000|8.928000	0.92853|0.92853	2.525000|2.525000	0.85131|0.85131	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.428	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		101	304	0	0	0	1	0	101	304				
C2orf40	84417	broad.mit.edu	37	2	106694297	106694297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106694297G>A	ENST00000238044.3	+	4	471	c.362G>A	c.(361-363)cGt>cAt	p.R121H	C2orf40_ENST00000409944.1_Missense_Mutation_p.R85H	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	121					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						TACTACCAACGTCACTATGAT	0.453																																						ENST00000409944.1																			0				lung(7)|urinary_tract(1)	8						c.(253-255)cGt>cAt		chromosome 2 open reading frame 40							162.0	141.0	148.0					2																	106694297		2203	4300	6503	SO:0001583	missense	84417					extracellular region|transport vesicle		g.chr2:106694297G>A	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.362G>A	2.37:g.106694297G>A	ENSP00000238044:p.Arg121His					C2orf40_ENST00000238044.3_Missense_Mutation_p.R121H	p.R85H			Q9H1Z8	AUGN_HUMAN			5	485	+			121					D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	37	c.254G>A	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	G	4.996	0.184997	0.09495	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.39997	1.05;1.05;1.05	5.31	4.44	0.53790	.	0.055536	0.64402	D	0.000001	T	0.21227	0.0511	N	0.16656	0.425	0.35120	D	0.76693	B	0.14012	0.009	B	0.13407	0.009	T	0.17992	-1.0351	10	0.07813	T	0.8	-8.5573	6.519	0.22264	0.3126:0.0:0.6874:0.0	.	121	Q9H1Z8	AUGN_HUMAN	H	85;121;123	ENSP00000386421:R85H;ENSP00000238044:R121H;ENSP00000388664:R123H	ENSP00000238044:R121H	R	+	2	0	C2orf40	106060729	1.000000	0.71417	0.994000	0.49952	0.783000	0.44284	3.886000	0.56190	1.231000	0.43661	0.591000	0.81541	CGT		0.453	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		108	312	0	0	0	1	0	108	312				
FAM111A	63901	broad.mit.edu	37	11	58920006	58920006	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920006A>G	ENST00000528737.1	+	5	3683	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	289					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GAAAAGAAACACCTGTGTGTT	0.378																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(865-867)Acc>Gcc		family with sequence similarity 111, member A							44.0	48.0	47.0					11																	58920006		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920006A>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.865A>G	11.37:g.58920006A>G	ENSP00000434435:p.Thr289Ala					FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A	p.T289A			Q96PZ2	F111A_HUMAN			5	3683	+		all_epithelial(135;0.139)	289					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.865A>G	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	9.447	1.089693	0.20390	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.65	-5.73	0.02398	.	1.275090	0.04949	N	0.459945	T	0.27933	0.0688	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.16424	-1.0403	10	0.16896	T	0.51	-9.762	5.2132	0.15329	0.2643:0.1307:0.4914:0.1137	.	289	Q96PZ2	F111A_HUMAN	A	289	ENSP00000434435:T289A;ENSP00000406683:T289A;ENSP00000355264:T289A;ENSP00000433154:T289A;ENSP00000431631:T289A	ENSP00000355264:T289A	T	+	1	0	FAM111A	58676582	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.516000	0.02250	-1.056000	0.03205	0.528000	0.53228	ACC		0.378	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		52	266	0	0	0	1	0	52	266				
PCDH9	5101	broad.mit.edu	37	13	66879090	66879090	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:66879090A>G	ENST00000377865.2	-	4	3545	c.3411T>C	c.(3409-3411)ggT>ggC	p.G1137G	PCDH9_ENST00000328454.5_Silent_p.G1103G|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Silent_p.G1103G|PCDH9_ENST00000544246.1_Silent_p.G1137G			Q9HC56	PCDH9_HUMAN	protocadherin 9	1137					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCAGAGTGACCCAAAACCA	0.488																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3409-3411)ggT>ggC		protocadherin 9							88.0	77.0	81.0					13																	66879090		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66879090A>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3411T>C	13.37:g.66879090A>G						PCDH9_ENST00000377865.2_Silent_p.G1137G|PCDH9_ENST00000456367.1_Silent_p.G1103G|PCDH9_ENST00000328454.5_Silent_p.G1103G|PCDH9-AS1_ENST00000430861.1_RNA	p.G1137G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4102	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1137					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.3411T>C	CCDS9444.1																																																																																				0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		42	252	0	0	0	1	0	42	252				
CDH13	1012	broad.mit.edu	37	16	83378596	83378596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83378596G>T	ENST00000566620.1	+	6	1056	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Nonsense_Mutation_p.E303*	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	256	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACGTCATGGAAGGGTCACC	0.507																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(766-768)Gaa>Taa		cadherin 13							106.0	106.0	106.0					16																	83378596		1980	4159	6139	SO:0001587	stop_gained	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83378596G>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.766G>T	16.37:g.83378596G>T	ENSP00000454435:p.Glu256*					CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000268613.10_Nonsense_Mutation_p.E303*	p.E256*	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	6	1056	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	256			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Nonsense_Mutation	SNP	ENST00000566620.1	37	c.766G>T	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	39	7.332772	0.98217	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8872	0.92383	0.0:0.0:1.0:0.0	.	.	.	.	X	303;256;217	.	ENSP00000268613:E303X	E	+	1	0	CDH13	81936097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.822000	0.86651	2.882000	0.98803	0.655000	0.94253	GAA		0.507	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		17	471	1	0	1.00905e-13	1	1.09121e-13	17	471				
GLMN	11146	broad.mit.edu	37	1	92754605	92754605	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92754605T>C	ENST00000370360.3	-	6	579	c.498A>G	c.(496-498)atA>atG	p.I166M	GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	166					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CATCCATTTGTATTTGTTCTT	0.373									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(496-498)atA>atG		glomulin, FKBP associated protein							115.0	111.0	112.0					1																	92754605		2203	4300	6503	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92754605T>C	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.498A>G	1.37:g.92754605T>C	ENSP00000359385:p.Ile166Met					GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	p.I166M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	6	579	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	166					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.498A>G	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426002	0.25726	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.43	-1.13	0.09775	.	0.202236	0.50627	D	0.000107	T	0.10165	0.0249	L	0.27053	0.805	0.35405	D	0.791937	B;B	0.24186	0.099;0.036	B;B	0.29942	0.109;0.034	T	0.04320	-1.0960	10	0.35671	T	0.21	-6.4651	1.6194	0.02710	0.3124:0.1362:0.0946:0.4568	.	166;166	B4DJ85;Q92990	.;GLMN_HUMAN	M	166	ENSP00000359385:I166M;ENSP00000440156:I166M	ENSP00000359385:I166M	I	-	3	3	GLMN	92527193	0.785000	0.28726	0.994000	0.49952	0.740000	0.42216	-0.237000	0.08990	0.341000	0.23771	0.477000	0.44152	ATA		0.373	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		25	276	0	0	0	1	0	25	276				
SEMA5B	54437	broad.mit.edu	37	3	122646797	122646797	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122646797G>T	ENST00000357599.3	-	8	1076	c.690C>A	c.(688-690)ccC>ccA	p.P230P	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Silent_p.P230P|SEMA5B_ENST00000451055.2_Silent_p.P284P	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	230	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGGGTCATAGGGGCAGCGGG	0.612																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(688-690)ccC>ccA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							95.0	91.0	92.0					3																	122646797		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646797G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.690C>A	3.37:g.122646797G>T						SEMA5B_ENST00000357599.3_Silent_p.P230P|SEMA5B_ENST00000451055.2_Silent_p.P284P	p.P230P			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	993	-			230			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.690C>A	CCDS35491.1																																																																																				0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		64	336	1	0	5.62145e-24	1	6.41091e-24	64	336				
SENP6	26054	broad.mit.edu	37	6	76423282	76423282	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76423282T>C	ENST00000447266.2	+	22	3441	c.2963T>C	c.(2962-2964)gTc>gCc	p.V988A	SENP6_ENST00000370014.3_Missense_Mutation_p.V988A|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A|SENP6_ENST00000541192.1_3'UTR	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	988	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCAAATGTTGTCAAAATTTTA	0.328																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2962-2964)gTc>gCc		SUMO1/sentrin specific peptidase 6							85.0	79.0	81.0					6																	76423282		1804	4068	5872	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76423282T>C		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2963T>C	6.37:g.76423282T>C	ENSP00000402527:p.Val988Ala					SENP6_ENST00000447266.2_Missense_Mutation_p.V988A|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A	p.V988A	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			22	3582	+		all_hematologic(105;0.189)	988			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.2963T>C	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089070	0.76756	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.32023	1.47;1.47;1.47	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000006	T	0.37320	0.0999	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.30119	-0.9989	10	0.66056	D	0.02	-9.8692	14.0535	0.64751	0.0:0.0:0.0:1.0	.	981;988	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	A	981;988;988	ENSP00000359027:V981A;ENSP00000359031:V988A;ENSP00000402527:V988A	ENSP00000359027:V981A	V	+	2	0	SENP6	76480002	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.731000	0.62022	1.785000	0.52413	0.377000	0.23210	GTC		0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		71	357	0	0	0	1	0	71	357				
TRMT11	60487	broad.mit.edu	37	6	126332478	126332478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126332478G>A	ENST00000334379.5	+	9	961	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TRMT11_ENST00000368332.3_Silent_p.E280E	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	280					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATGGTTTAGAGAAGTATTACC	0.388																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(838-840)gaG>gaA		tRNA methyltransferase 11 homolog (S. cerevisiae)							109.0	86.0	94.0					6																	126332478		2203	4300	6503	SO:0001819	synonymous_variant	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126332478G>A	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.840G>A	6.37:g.126332478G>A						TRMT11_ENST00000368332.3_Silent_p.E280E	p.E280E	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	9	961	+			280					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	c.840G>A	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897034	0.17686	.	.	ENSG00000066651	ENST00000453993	T	0.45276	0.9	5.62	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05616	-1.0874	7	0.07644	T	0.81	-16.5083	7.9756	0.30153	0.3331:0.0:0.6669:0.0	.	.	.	.	K	79	ENSP00000410498:E79K	ENSP00000410498:E79K	E	+	1	0	TRMT11	126374171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.594000	0.36697	1.393000	0.46605	-0.137000	0.14449	GAA		0.388	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		37	137	0	0	0	1	0	37	137				
DNAJC1	64215	broad.mit.edu	37	10	22048251	22048251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048251C>T	ENST00000376980.3	-	11	1734	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	482					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGGCTCTCCTCGTCGCTGGAC	0.562																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1444-1446)Gag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 1							103.0	100.0	101.0					10																	22048251		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048251C>T	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1444G>A	10.37:g.22048251C>T	ENSP00000366179:p.Glu482Lys						p.E482K	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			11	1734	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	482					B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1444G>A	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035396	0.54896	.	.	ENSG00000136770	ENST00000376980	T	0.65178	-0.14	5.68	5.68	0.88126	.	0.580607	0.19233	N	0.119344	T	0.57475	0.2056	L	0.59436	1.845	0.80722	D	1	D;P	0.59357	0.985;0.824	B;B	0.43155	0.41;0.083	T	0.54125	-0.8340	10	0.15066	T	0.55	-5.0347	13.0501	0.58950	0.0:0.9265:0.0:0.0735	.	203;482	Q96NY3;Q96KC8	.;DNJC1_HUMAN	K	482	ENSP00000366179:E482K	ENSP00000366179:E482K	E	-	1	0	DNAJC1	22088257	0.998000	0.40836	1.000000	0.80357	0.506000	0.33950	4.877000	0.63086	2.697000	0.92050	0.491000	0.48974	GAG		0.562	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		124	502	0	0	0	1	0	124	502				
FLNA	2316	broad.mit.edu	37	X	153588685	153588685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153588685C>A	ENST00000369850.3	-	22	3714	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	FLNA_ENST00000344736.4_Missense_Mutation_p.A1160S|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S|FLNA_ENST00000422373.1_Missense_Mutation_p.A1160S|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1160					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTTGGATGCGTCAAAGCAG	0.652											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(3478-3480)Gca>Tca		filamin A, alpha							49.0	58.0	55.0					X																	153588685		2114	4181	6295	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588685C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3478G>T	X.37:g.153588685C>A	ENSP00000358866:p.Ala1160Ser		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000344736.4_Missense_Mutation_p.A1160S|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S|FLNA_ENST00000369850.3_Missense_Mutation_p.A1160S	p.A1160S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3726	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1160					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3478G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624820	0.14193	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.92	3.08	0.35506	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.066241	0.64402	D	0.000014	D	0.88577	0.6474	M	0.72894	2.215	0.20307	N	0.999911	B;B	0.33826	0.427;0.002	B;B	0.43155	0.41;0.018	T	0.80865	-0.1191	10	0.39692	T	0.17	.	14.6502	0.68792	0.0:0.4961:0.5039:0.0	.	1160;1160	P21333-2;P21333	.;FLNA_HUMAN	S	1160;1133;1160;1160;1160	ENSP00000353467:A1160S;ENSP00000416926:A1160S;ENSP00000358866:A1160S;ENSP00000358863:A1160S	ENSP00000358863:A1160S	A	-	1	0	FLNA	153241879	0.015000	0.18098	0.046000	0.18839	0.301000	0.27625	0.391000	0.20784	0.871000	0.35750	0.525000	0.51046	GCA		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			73	241	1	0	2.48295e-43	1	3.03066e-43	73	241				
CKAP2L	150468	broad.mit.edu	37	2	113513898	113513898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113513898G>A	ENST00000302450.6	-	4	1128	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	CKAP2L_ENST00000541405.1_Silent_p.N185N|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	350						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGCTTGATGTTTGGATGTC	0.433																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(553-555)aaC>aaT		cytoskeleton associated protein 2-like							166.0	157.0	160.0					2																	113513898		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113513898G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1050C>T	2.37:g.113513898G>A						CKAP2L_ENST00000302450.6_Silent_p.N350N	p.N185N			Q8IYA6	CKP2L_HUMAN			4	1078	-			350					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.555C>T	CCDS2100.1																																																																																				0.433	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		177	517	0	0	0	1	0	177	517				
MECOM	2122	broad.mit.edu	37	3	168807822	168807822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168807822C>T	ENST00000464456.1	-	13	3976	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000433243.2_Missense_Mutation_p.A936T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCTCCAGGGCACTGGTTTCT	0.438																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2776-2778)Gcc>Acc		MDS1 and EVI1 complex locus							208.0	196.0	200.0					3																	168807822		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168807822C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2776G>A	3.37:g.168807822C>T	ENSP00000419770:p.Ala926Thr					MECOM_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T|MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T|MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T|MECOM_ENST00000433243.2_Missense_Mutation_p.A936T	p.A926T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			13	3976	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2776G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	4.050	0.006924	0.07866	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05319	3.5;3.5;3.47;3.6;3.46;3.5;3.47;3.6	5.46	1.75	0.24633	.	1.124900	0.06634	N	0.759856	T	0.07098	0.0180	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.0;0.002;0.001	T	0.42447	-0.9451	10	0.44086	T	0.13	1.011	9.325	0.37988	0.0:0.5529:0.0:0.4471	.	1123;927;1114;1000;935	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1000;935;926;936;1114;935;926;936	ENSP00000264674:A1000T;ENSP00000376493:A935T;ENSP00000419770:A926T;ENSP00000420048:A936T;ENSP00000417899:A1114T;ENSP00000419995:A935T;ENSP00000420466:A926T;ENSP00000394302:A936T	ENSP00000264674:A1000T	A	-	1	0	MECOM	170290516	0.040000	0.19996	0.003000	0.11579	0.000000	0.00434	0.015000	0.13355	0.043000	0.15746	-0.827000	0.03088	GCC		0.438	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		106	512	0	0	0	1	0	106	512				
GABRA4	2557	broad.mit.edu	37	4	46930552	46930552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930552G>A	ENST00000264318.3	-	9	2337	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	452					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGAAGCAGATGGAAGTGCTCT	0.478																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1354-1356)cCa>cTa		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						115.0	103.0	107.0					4																	46930552		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930552G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1355C>T	4.37:g.46930552G>A	ENSP00000264318:p.Pro452Leu						p.P452L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2337	-			452					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1355C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957640	0.18507	.	.	ENSG00000109158	ENST00000264318	D	0.82344	-1.6	5.82	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.163590	0.01097	N	0.005286	T	0.79197	0.4405	L	0.50333	1.59	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.57075	-0.7873	10	0.09084	T	0.74	.	8.5622	0.33518	0.0761:0.0:0.7721:0.1517	.	452	P48169	GBRA4_HUMAN	L	452	ENSP00000264318:P452L	ENSP00000264318:P452L	P	-	2	0	GABRA4	46625309	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	4.095000	0.57728	0.790000	0.33803	0.650000	0.86243	CCA		0.478	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			84	324	0	0	0	1	0	84	324				
PRR16	51334	broad.mit.edu	37	5	120022128	120022128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:120022128C>A	ENST00000407149.2	+	2	848	c.639C>A	c.(637-639)taC>taA	p.Y213*	PRR16_ENST00000379551.2_Nonsense_Mutation_p.Y190*|PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*			Q569H4	LARGN_HUMAN	proline rich 16	213	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AAGTACAGTACCATGGCTATT	0.488																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(568-570)taC>taA		proline rich 16							76.0	77.0	77.0					5																	120022128		2203	4300	6503	SO:0001587	stop_gained	51334							g.chr5:120022128C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.639C>A	5.37:g.120022128C>A	ENSP00000385118:p.Tyr213*					PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000407149.2_Nonsense_Mutation_p.Y213*	p.Y190*	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	927	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	213			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Nonsense_Mutation	SNP	ENST00000407149.2	37	c.570C>A		.	.	.	.	.	.	.	.	.	.	C	18.90	3.721352	0.68959	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	.	.	.	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7253	9.7476	0.40457	0.0:0.8394:0.0:0.1606	.	.	.	.	X	213;190;143;143	.	.	Y	+	3	2	PRR16	120050027	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.677000	0.25262	1.310000	0.45006	-0.143000	0.13931	TAC		0.488	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		40	210	1	0	6.33695e-27	1	7.31871e-27	40	210				
AOC1	26	broad.mit.edu	37	7	150558089	150558089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150558089C>T	ENST00000493429.1	+	7	2632	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.P683L|AOC1_ENST00000416793.2_Missense_Mutation_p.P702L|AOC1_ENST00000467291.1_Missense_Mutation_p.P683L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	683					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GAGGACATTCCCAACACAGCC	0.622																																						ENST00000493429.1																			0											c.(2047-2049)cCc>cTc		amine oxidase, copper containing 1							63.0	76.0	72.0					7																	150558089		2066	4207	6273	SO:0001583	missense	26							g.chr7:150558089C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2048C>T	7.37:g.150558089C>T	ENSP00000418614:p.Pro683Leu					AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.P683L|AOC1_ENST00000360937.4_Missense_Mutation_p.P683L|AOC1_ENST00000416793.2_Missense_Mutation_p.P702L	p.P683L							7	2632	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2048C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382046	0.82792	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.01	4.13	0.48395	Copper amine oxidase, C-terminal (3);	0.178483	0.50627	D	0.000120	T	0.69886	0.3161	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.75921	-0.3147	10	0.87932	D	0	-47.003	10.9465	0.47304	0.0:0.9084:0.0:0.0916	.	702;683	C9J690;P19801	.;ABP1_HUMAN	L	683;683;683;702;559	ENSP00000418614:P683L;ENSP00000418328:P683L;ENSP00000354193:P683L;ENSP00000411613:P702L	ENSP00000354193:P683L	P	+	2	0	ABP1	150189022	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.421000	0.80204	1.108000	0.41662	0.484000	0.47621	CCC		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		65	328	0	0	0	1	0	65	328				
CFLAR	8837	broad.mit.edu	37	2	202025276	202025276	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202025276C>T	ENST00000309955.3	+	9	1430	c.915C>T	c.(913-915)taC>taT	p.Y305Y	CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000443227.1_Silent_p.Y209Y|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Silent_p.Y305Y|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000479953.2_Silent_p.Y209Y	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	305	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACCGAGACTACGACAGCTTTG	0.532																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(913-915)taC>taT		CASP8 and FADD-like apoptosis regulator							197.0	176.0	183.0					2																	202025276		2203	4300	6503	SO:0001819	synonymous_variant	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025276C>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.915C>T	2.37:g.202025276C>T						CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000443227.1_Silent_p.Y209Y|CFLAR_ENST00000479953.2_Silent_p.Y209Y|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR_ENST00000457277.1_Silent_p.Y305Y	p.Y305Y	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			9	1430	+			305			Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	c.915C>T	CCDS2337.1																																																																																				0.532	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		74	785	0	0	0	1	0	74	785				
DUS1L	64118	broad.mit.edu	37	17	80021381	80021381	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80021381G>T	ENST00000354321.7	-	3	845	c.360C>A	c.(358-360)gcC>gcA	p.A120A	DUS1L_ENST00000306796.5_Silent_p.A120A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	120							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGCAGAAAGGCGCCATAGT	0.602																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(358-360)gcC>gcA		dihydrouridine synthase 1-like (S. cerevisiae)							178.0	153.0	161.0					17																	80021381		2203	4300	6503	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80021381G>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.360C>A	17.37:g.80021381G>T						DUS1L_ENST00000306796.5_Silent_p.A120A	p.A120A			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		3	845	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		120					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.360C>A	CCDS32775.1																																																																																				0.602	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		72	799	1	0	5.44642e-36	1	6.51243e-36	72	799				
ZBTB14	7541	broad.mit.edu	37	18	5290889	5290889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5290889C>T	ENST00000357006.4	-	4	1656	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	ZBTB14_ENST00000400143.3_Missense_Mutation_p.E440K	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	440					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										AGCTGCTGTTCTGCTTCCGCA	0.547																																						ENST00000357006.4																			0											c.(1318-1320)Gaa>Aaa		zinc finger and BTB domain containing 14							89.0	76.0	80.0					18																	5290889		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5290889C>T	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1318G>A	18.37:g.5290889C>T	ENSP00000349503:p.Glu440Lys					ZBTB14_ENST00000400143.3_Missense_Mutation_p.E440K	p.E440K	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1656	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1318G>A	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742409	0.69418	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.10005	2.92;2.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.07324	0.0185	N	0.14661	0.345	0.80722	D	1	P	0.41232	0.743	B	0.28385	0.089	T	0.23547	-1.0185	10	0.66056	D	0.02	-27.6814	19.8253	0.96616	0.0:1.0:0.0:0.0	.	440	O43829	ZF161_HUMAN	K	440	ENSP00000349503:E440K;ENSP00000383009:E440K	ENSP00000349503:E440K	E	-	1	0	ZFP161	5280889	.	.	0.956000	0.39512	0.461000	0.32589	.	.	2.676000	0.91093	0.650000	0.86243	GAA		0.547	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		84	353	0	0	0	1	0	84	353				
ZNF407	55628	broad.mit.edu	37	18	72775354	72775354	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775354C>T	ENST00000299687.5	+	8	5677	c.5677C>T	c.(5677-5679)Ctg>Ttg	p.L1893L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1893					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTGCAGACGCTGGCCATGGC	0.682																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5677-5679)Ctg>Ttg		zinc finger protein 407							10.0	14.0	12.0					18																	72775354		2077	4188	6265	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775354C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5677C>T	18.37:g.72775354C>T							p.L1893L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5677	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1893					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5677C>T	CCDS45885.1																																																																																				0.682	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		17	117	0	0	0	1	0	17	117				
NRD1	4898	broad.mit.edu	37	1	52299774	52299774	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52299774C>A	ENST00000354831.7	-	6	1174	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|NRD1_ENST00000352171.7_Missense_Mutation_p.G261C|NRD1_ENST00000544028.1_Missense_Mutation_p.G129C|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	260					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTATCACTACCCCCATGCTTC	0.403																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(985-987)Ggt>Tgt		nardilysin (N-arginine dibasic convertase)							167.0	158.0	161.0					1																	52299774		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52299774C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.985G>T	1.37:g.52299774C>A	ENSP00000346890:p.Gly329Cys					NRD1_ENST00000352171.7_Missense_Mutation_p.G261C|NRD1_ENST00000544028.1_Missense_Mutation_p.G129C|NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|NRD1_ENST00000485608.1_5'UTR	p.G329C	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			6	1174	-			260					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.985G>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109090	0.94292	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.97	5.97	0.96955	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81129	-0.1073	10	0.87932	D	0	-14.0013	20.4238	0.99064	0.0:1.0:0.0:0.0	.	261;260;329	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	C	261;329;197;261;129	ENSP00000262679:G261C;ENSP00000346890:G329C;ENSP00000444416:G197C;ENSP00000442262:G129C	ENSP00000262679:G261C	G	-	1	0	NRD1	52072362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.416000	0.80143	2.834000	0.97654	0.650000	0.86243	GGT		0.403	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		89	440	1	0	7.28744e-38	1	8.7633e-38	89	440				
APOB	338	broad.mit.edu	37	2	21245781	21245781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21245781G>T	ENST00000233242.1	-	18	2865	c.2738C>A	c.(2737-2739)gCt>gAt	p.A913D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	913	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAACATGAGCCTCCAGACC	0.498																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2737-2739)gCt>gAt		apolipoprotein B	Atorvastatin(DB01076)						83.0	75.0	78.0					2																	21245781		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245781G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2738C>A	2.37:g.21245781G>T	ENSP00000233242:p.Ala913Asp						p.A913D	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			18	2865	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		913			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2738C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780221	0.70222	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19669	2.13	5.51	3.72	0.42706	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.321319	0.26474	N	0.024168	T	0.40546	0.1121	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.22138	-1.0225	10	0.87932	D	0	.	7.7883	0.29106	0.1421:0.1333:0.7247:0.0	.	913	P04114	APOB_HUMAN	D	913	ENSP00000233242:A913D	ENSP00000233242:A913D	A	-	2	0	APOB	21099286	1.000000	0.71417	0.619000	0.29118	0.916000	0.54674	3.676000	0.54612	0.823000	0.34589	0.655000	0.94253	GCT		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			26	277	1	0	4.87955e-14	1	5.28594e-14	26	277				
MAP3K19	80122	broad.mit.edu	37	2	135743506	135743506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135743506G>A	ENST00000375845.3	-	7	2966	c.2936C>T	c.(2935-2937)gCt>gTt	p.A979V	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.A866V|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.A996V	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	979							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTCATCAAGAGCTAATAATTC	0.353																																						ENST00000375845.3																			0											c.(2935-2937)gCt>gTt		mitogen-activated protein kinase kinase kinase 19							79.0	77.0	78.0					2																	135743506		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135743506G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2936C>T	2.37:g.135743506G>A	ENSP00000365005:p.Ala979Val					MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.A996V|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.A866V|MAP3K19_ENST00000375844.3_Intron	p.A979V	NM_025052.3	NP_079328.3					7	2966	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2936C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548258	0.65311	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.73152	-0.64;-0.62;1.55;-0.72	4.73	4.73	0.59995	.	0.000000	0.46442	D	0.000289	T	0.80401	0.4616	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.991	P;D;P	0.74023	0.896;0.982;0.79	T	0.79240	-0.1885	10	0.39692	T	0.17	.	10.2358	0.43282	0.0998:0.0:0.9002:0.0	.	866;996;979	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	979;866;996;369	ENSP00000365005:A979V;ENSP00000351140:A866V;ENSP00000376647:A996V;ENSP00000392827:A369V	ENSP00000351140:A866V	A	-	2	0	YSK4	135459976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.831000	0.69330	2.453000	0.82957	0.455000	0.32223	GCT		0.353	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		67	188	0	0	0	1	0	67	188				
NYAP2	57624	broad.mit.edu	37	2	226378301	226378301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226378301G>A	ENST00000272907.6	+	3	849	c.436G>A	c.(436-438)Gac>Aac	p.D146N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	146					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACCCAAGAGGGACCCCAGCAC	0.572																																						ENST00000272907.6																			0											c.(436-438)Gac>Aac		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							68.0	85.0	79.0					2																	226378301		2103	4231	6334	SO:0001583	missense	57624							g.chr2:226378301G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.436G>A	2.37:g.226378301G>A	ENSP00000272907:p.Asp146Asn					NYAP2_ENST00000409269.2_Intron	p.D146N	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			3	849	+			146					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.436G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141108	0.94560	.	.	ENSG00000144460	ENST00000272907	T	0.51574	0.7	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.58583	1.82	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.63795	-0.6556	10	0.41790	T	0.15	-20.7283	19.5365	0.95255	0.0:0.0:1.0:0.0	.	146	Q9P242	K1486_HUMAN	N	146	ENSP00000272907:D146N	ENSP00000272907:D146N	D	+	1	0	KIAA1486	226086545	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.400000	0.97290	2.614000	0.88457	0.563000	0.77884	GAC		0.572	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		13	236	0	0	0	1	0	13	236				
LRRC16A	55604	broad.mit.edu	37	6	25515950	25515950	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25515950C>A	ENST00000329474.6	+	21	2048	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	560					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGACTGAGGTCACCATCATCA	0.557																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1678-1680)gtC>gtA		leucine rich repeat containing 16A							52.0	56.0	55.0					6																	25515950		2172	4290	6462	SO:0001819	synonymous_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25515950C>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1680C>A	6.37:g.25515950C>A							p.V560V	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			21	2048	+			560					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	c.1680C>A	CCDS54973.1																																																																																				0.557	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		13	55	1	0	1.3612e-06	1	1.40558e-06	13	55				
STAU1	6780	broad.mit.edu	37	20	47734381	47734381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47734381A>G	ENST00000371856.2	-	11	1852	c.1442T>C	c.(1441-1443)gTa>gCa	p.V481A	STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A|STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371828.3_Missense_Mutation_p.V406A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	481					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCATGGGGTACGTGGCCTGA	0.542																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1216-1218)gTa>gCa		staufen double-stranded RNA binding protein 1							107.0	100.0	102.0					20																	47734381		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734381A>G		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1442T>C	20.37:g.47734381A>G	ENSP00000360922:p.Val481Ala					STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A|STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000371856.2_Missense_Mutation_p.V481A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A	p.V406A	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		11	1704	-			481					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1217T>C	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.485931	0.26686	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.62	1.67	0.24075	.	0.382698	0.28724	N	0.014355	T	0.16428	0.0395	N	0.19112	0.55	0.36619	D	0.875678	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15809	-1.0424	10	0.17369	T	0.5	-1.9751	9.0908	0.36610	0.7594:0.0:0.2406:0.0	.	481;406	O95793;Q5JW29	STAU1_HUMAN;.	A	406;400;481;400;400;400;406;398	ENSP00000360893:V406A;ENSP00000345425:V400A;ENSP00000360922:V481A;ENSP00000353604:V400A;ENSP00000323443:V400A;ENSP00000360867:V406A;ENSP00000360857:V398A	ENSP00000345425:V400A	V	-	2	0	STAU1	47167788	0.004000	0.15560	1.000000	0.80357	0.999000	0.98932	1.920000	0.40025	0.276000	0.22118	0.528000	0.53228	GTA		0.542	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		69	304	0	0	0	1	0	69	304				
LRIG3	121227	broad.mit.edu	37	12	59283900	59283900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59283900G>A	ENST00000320743.3	-	5	823	c.537C>T	c.(535-537)gtC>gtT	p.V179V	LRIG3_ENST00000379141.4_Silent_p.V119V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	179					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCATTGATGTGACTCGGTTGC	0.413			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(535-537)gtC>gtT		leucine-rich repeats and immunoglobulin-like domains 3							219.0	211.0	214.0					12																	59283900		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59283900G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.537C>T	12.37:g.59283900G>A						LRIG3_ENST00000379141.4_Silent_p.V119V	p.V179V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		5	823	-			179					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.537C>T	CCDS8960.1																																																																																				0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		190	783	0	0	0	1	0	190	783				
DIP2A	23181	broad.mit.edu	37	21	47966834	47966834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47966834C>A	ENST00000417564.2	+	21	2422	c.2401C>A	c.(2401-2403)Ctg>Atg	p.L801M	DIP2A_ENST00000318711.7_Missense_Mutation_p.L802M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	801					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCAGGACAACCTGGTCTTCAT	0.612																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2404-2406)Ctg>Atg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							78.0	84.0	82.0					21																	47966834		2133	4257	6390	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47966834C>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2401C>A	21.37:g.47966834C>A	ENSP00000392066:p.Leu801Met					DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000417564.2_Missense_Mutation_p.L801M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M	p.L802M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	21	2587	+	Breast(49;0.0933)		801					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2404C>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979798	0.53827	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.41	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000018	T	0.51890	0.1701	L	0.50993	1.605	0.51233	D	0.999918	D;P;D;D;D;B	0.89917	0.972;0.899;1.0;0.996;0.988;0.358	D;P;D;D;P;P	0.91635	0.928;0.53;0.999;0.913;0.856;0.577	T	0.47849	-0.9085	10	0.46703	T	0.11	-14.7334	7.009	0.24851	0.0:0.6354:0.0:0.3645	.	802;737;758;737;801;801	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4	.;.;.;.;DIP2A_HUMAN;.	M	797;737;802;758;801;758;801;801	ENSP00000383133:L797M;ENSP00000400528:L737M;ENSP00000323633:L802M;ENSP00000393434:L801M;ENSP00000430249:L758M;ENSP00000415089:L801M;ENSP00000392066:L801M	ENSP00000323633:L802M	L	+	1	2	DIP2A	46791262	0.400000	0.25295	0.998000	0.56505	0.918000	0.54935	0.823000	0.27366	0.980000	0.38523	0.467000	0.42956	CTG		0.612	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		24	102	1	0	2.41591e-17	1	2.66597e-17	24	102				
FAM71B	153745	broad.mit.edu	37	5	156592605	156592605	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156592605T>C	ENST00000302938.4	-	1	670	c.575A>G	c.(574-576)gAc>gGc	p.D192G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	192						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGTGGTGCGTCCCCAGATAG	0.507																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(574-576)gAc>gGc		family with sequence similarity 71, member B							200.0	201.0	200.0					5																	156592605		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592605T>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.575A>G	5.37:g.156592605T>C	ENSP00000305596:p.Asp192Gly						p.D192G	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	670	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	192					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.575A>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553600	0.45487	.	.	ENSG00000170613	ENST00000302938	T	0.05925	3.37	3.8	2.65	0.31530	.	0.259848	0.26627	N	0.023337	T	0.13457	0.0326	L	0.55990	1.75	0.09310	N	1	D	0.69078	0.997	P	0.61132	0.884	T	0.03619	-1.1019	10	0.72032	D	0.01	-13.3671	5.9023	0.18974	0.0:0.1177:0.0:0.8823	.	192	Q8TC56	FA71B_HUMAN	G	192	ENSP00000305596:D192G	ENSP00000305596:D192G	D	-	2	0	FAM71B	156525183	0.079000	0.21365	0.012000	0.15200	0.001000	0.01503	1.881000	0.39638	0.828000	0.34709	-0.250000	0.11733	GAC		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		19	1347	0	0	0	1	0	19	1347				
EEF1D	1936	broad.mit.edu	37	8	144671318	144671318	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671318C>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.A362T|EEF1D_ENST00000442189.2_Missense_Mutation_p.A312T|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A312T			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCTGCATCCTTCTGC	0.697																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1084-1086)Gca>Aca		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							17.0	20.0	19.0					8																	144671318		2196	4292	6488	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671318C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2299G>A	8.37:g.144671318C>T						EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A312T|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.A312T|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron	p.A362T			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1312	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.1084G>A	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118380	0.20877	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369	.	.	.	4.9	1.92	0.25849	.	0.386686	0.26738	N	0.022758	T	0.19366	0.0465	N	0.25647	0.755	0.20489	N	0.999899	B;B;B	0.29646	0.164;0.146;0.253	B;B;B	0.28232	0.04;0.038;0.087	T	0.17379	-1.0371	9	0.66056	D	0.02	.	0.867	0.01206	0.2176:0.3907:0.1873:0.2044	.	312;362;312	D3DWK1;E9PRY8;P29692-2	.;.;.	T	362;312;312;264;312	.	ENSP00000338323:A312T	A	-	1	0	EEF1D	144742461	0.949000	0.32298	0.211000	0.23655	0.568000	0.35870	2.457000	0.45005	0.552000	0.29026	0.561000	0.74099	GCA		0.697	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		25	93	0	0	0	1	0	25	93				
SHB	6461	broad.mit.edu	37	9	37974723	37974723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37974723C>T	ENST00000377707.3	-	3	1515	c.950G>A	c.(949-951)aGc>aAc	p.S317N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	317	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CAGTCGGGGGCTGACTGTGCT	0.592																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(949-951)aGc>aAc		Src homology 2 domain containing adaptor protein B							84.0	93.0	90.0					9																	37974723		2073	4182	6255	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37974723C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.950G>A	9.37:g.37974723C>T	ENSP00000366936:p.Ser317Asn					RP11-613M10.9_ENST00000540557.1_3'UTR	p.S317N	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	3	1515	-		all_epithelial(88;0.122)	317			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.950G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272650	0.59649	.	.	ENSG00000107338	ENST00000377707	T	0.44083	0.93	5.55	5.55	0.83447	.	0.616511	0.16287	N	0.221097	T	0.29524	0.0736	N	0.19112	0.55	0.80722	D	1	B	0.33073	0.396	B	0.26770	0.073	T	0.08513	-1.0718	10	0.30854	T	0.27	-23.0729	17.0051	0.86391	0.0:1.0:0.0:0.0	.	317	Q15464	SHB_HUMAN	N	317	ENSP00000366936:S317N	ENSP00000366936:S317N	S	-	2	0	SHB	37964723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.021000	0.57196	2.620000	0.88729	0.563000	0.77884	AGC		0.592	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			73	391	0	0	0	1	0	73	391				
EPHA5	2044	broad.mit.edu	37	4	66280142	66280142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66280142G>A	ENST00000273854.3	-	7	2147	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M|EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	516	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTGATAATCGTGTAGCTGGT	0.388										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1546-1548)aCg>aTg		EPH receptor A5							173.0	139.0	151.0					4																	66280142		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66280142G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1547C>T	4.37:g.66280142G>A	ENSP00000273854:p.Thr516Met	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M|EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M	p.T516M	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			7	2147	-			516			Fibronectin type-III 2.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1547C>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533607	0.85812	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.74176	0.3682	M	0.72624	2.21	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.97;1.0;0.991	T	0.71556	-0.4557	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	516;516;516;516	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	516;352;516;516	ENSP00000273854:T516M;ENSP00000389208:T352M;ENSP00000346899:T516M;ENSP00000427638:T516M	ENSP00000273854:T516M	T	-	2	0	EPHA5	65962737	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.822000	0.86651	2.941000	0.99782	0.655000	0.94253	ACG		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		69	393	0	0	0	1	0	69	393				
ARHGAP29	9411	broad.mit.edu	37	1	94670714	94670714	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94670714C>A	ENST00000260526.6	-	7	782	c.600G>T	c.(598-600)aaG>aaT	p.K200N	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	200					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGTCAGTGTTCTTTAACAGCA	0.338																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(598-600)aaG>aaT		Rho GTPase activating protein 29							74.0	72.0	73.0					1																	94670714		2202	4300	6502	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94670714C>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.600G>T	1.37:g.94670714C>A	ENSP00000260526:p.Lys200Asn					ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	p.K200N	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	7	782	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	200					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.600G>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615885	0.46631	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.23950	1.91;1.88	5.87	2.99	0.34606	.	0.000000	0.40385	N	0.001118	T	0.17789	0.0427	L	0.46157	1.445	0.35628	D	0.810027	P;B	0.51933	0.949;0.23	P;B	0.49192	0.602;0.131	T	0.03212	-1.1060	10	0.72032	D	0.01	-24.0817	11.4447	0.50116	0.0:0.7044:0.0:0.2956	.	200;200	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	N	200	ENSP00000260526:K200N;ENSP00000359237:K200N	ENSP00000260526:K200N	K	-	3	2	ARHGAP29	94443302	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.221000	0.32503	0.956000	0.37904	0.655000	0.94253	AAG		0.338	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		10	173	1	0	1.58986e-06	1	1.64048e-06	10	173				
C3orf17	25871	broad.mit.edu	37	3	112729539	112729539	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112729539T>G	ENST00000314400.5	-	7	1117	c.926A>C	c.(925-927)gAa>gCa	p.E309A	C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A|C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	309					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CACATCAAATTCTGATGACTC	0.363																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(925-927)gAa>gCa		chromosome 3 open reading frame 17							81.0	78.0	79.0					3																	112729539		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112729539T>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.926A>C	3.37:g.112729539T>G	ENSP00000320251:p.Glu309Ala					C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A|C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A|C3orf17_ENST00000472762.1_5'UTR	p.E309A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			7	1117	-			309					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.926A>C	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	8.710	0.911758	0.17907	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000393857	T;T;T	0.18174	2.49;2.49;2.23	5.87	0.443	0.16587	.	0.932998	0.09236	N	0.829848	T	0.12433	0.0302	L	0.60455	1.87	0.23657	N	0.997183	B;B;B;B	0.33171	0.004;0.017;0.228;0.4	B;B;B;B	0.30855	0.007;0.012;0.121;0.121	T	0.31971	-0.9924	10	0.16896	T	0.51	-9.1912	0.7962	0.01067	0.1596:0.2222:0.164:0.4543	.	198;106;239;309	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	A	309;239;173	ENSP00000320251:E309A;ENSP00000373173:E239A;ENSP00000377438:E173A	ENSP00000320251:E309A	E	-	2	0	C3orf17	114212229	0.998000	0.40836	0.997000	0.53966	0.915000	0.54546	0.216000	0.17585	0.463000	0.27118	0.533000	0.62120	GAA		0.363	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		40	184	0	0	0	1	0	40	184				
CNTNAP2	26047	broad.mit.edu	37	7	147914439	147914439	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147914439A>G	ENST00000361727.3	+	19	3586	c.3070A>G	c.(3070-3072)Aca>Gca	p.T1024A	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T83A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1024					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCACCAGCAACAAATGCCAG	0.498										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3070-3072)Aca>Gca		contactin associated protein-like 2							122.0	122.0	122.0					7																	147914439		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914439A>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3070A>G	7.37:g.147914439A>G	ENSP00000354778:p.Thr1024Ala	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T83A	p.T1024A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3586	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1024					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3070A>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	2.089	-0.408750	0.04799	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79554	-1.28;-1.28	5.25	-4.6	0.03390	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.943125	0.08941	N	0.871526	T	0.60405	0.2266	L	0.31578	0.945	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.08599	T	0.76	.	4.5312	0.12006	0.5566:0.103:0.2361:0.1043	.	1024	Q9UHC6	CNTP2_HUMAN	A	1024;83	ENSP00000354778:T1024A;ENSP00000440732:T83A	ENSP00000354778:T1024A	T	+	1	0	CNTNAP2	147545372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.025000	0.12413	-1.048000	0.03238	-0.366000	0.07423	ACA		0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			12	703	0	0	0	1	0	12	703				
FLII	2314	broad.mit.edu	37	17	18150248	18150248	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18150248T>C	ENST00000327031.4	-	22	3020	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000545457.2_Missense_Mutation_p.D877G|FLII_ENST00000379450.4_Missense_Mutation_p.D846G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	932	Glu-rich.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GACGTAGCAGTCCTGCGTGTA	0.612																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2794-2796)gAc>gGc		flightless I homolog (Drosophila)							111.0	98.0	103.0					17																	18150248		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150248T>C	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2795A>G	17.37:g.18150248T>C	ENSP00000324573:p.Asp932Gly					FLII_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.D877G|FLII_ENST00000379450.4_Missense_Mutation_p.D846G	p.D932G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			22	3020	-	all_neural(463;0.228)		932			Glu-rich.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2795A>G	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507034	0.64410	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.38077	1.68;1.16;1.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;0.997	D;D;D;D;D	0.83275	0.996;0.996;0.993;0.979;0.989	T	0.70223	-0.4931	10	0.87932	D	0	-37.3956	15.4149	0.74960	0.0:0.0:0.0:1.0	.	846;846;811;932;901	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	G	932;811;846	ENSP00000324573:D932G;ENSP00000438536:D811G;ENSP00000368763:D846G	ENSP00000324573:D932G	D	-	2	0	FLII	18090973	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	5.625000	0.67770	2.045000	0.60652	0.459000	0.35465	GAC		0.612	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		44	385	0	0	0	1	0	44	385				
CNTRL	11064	broad.mit.edu	37	9	123898163	123898163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123898163G>T	ENST00000373855.1	+	15	2365	c.2105G>T	c.(2104-2106)aGt>aTt	p.S702I	CNTRL_ENST00000238341.5_Missense_Mutation_p.S702I|CNTRL_ENST00000373850.1_Missense_Mutation_p.S150I|CNTRL_ENST00000373847.1_Missense_Mutation_p.S150I			Q7Z7A1	CNTRL_HUMAN	centriolin	702					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAGATCTCAGTGCCTATGAA	0.493																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(2104-2106)aGt>aTt		centriolin							84.0	74.0	77.0					9																	123898163		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123898163G>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2105G>T	9.37:g.123898163G>T	ENSP00000362962:p.Ser702Ile					CNTRL_ENST00000373847.1_Missense_Mutation_p.S150I|CNTRL_ENST00000238341.5_Missense_Mutation_p.S702I|CNTRL_ENST00000373850.1_Missense_Mutation_p.S150I	p.S702I			Q7Z7A1	CNTRL_HUMAN			15	2365	+			702					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.2105G>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885778	0.72410	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.78	3.94	0.45596	.	.	.	.	.	T	0.50667	0.1629	L	0.34521	1.04	0.38654	D	0.951908	P;P;P	0.49783	0.883;0.928;0.883	P;P;P	0.51135	0.459;0.66;0.459	T	0.55854	-0.8075	9	0.72032	D	0.01	.	11.0477	0.47867	0.0695:0.1291:0.8014:0.0	.	702;702;702	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	I	702;702;702;184;150;150	ENSP00000362962:S702I;ENSP00000238341:S702I;ENSP00000362956:S150I;ENSP00000362953:S150I	ENSP00000238341:S702I	S	+	2	0	CNTRL	122937984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.420000	0.59841	0.785000	0.33685	0.655000	0.94253	AGT		0.493	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		41	237	1	0	6.1207e-33	1	7.24336e-33	41	237				
CREB3L1	90993	broad.mit.edu	37	11	46332593	46332593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46332593G>A	ENST00000529193.1	+	5	1057	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CREB3L1_ENST00000288400.3_Silent_p.V202V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	202					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGGACCTGGTGCAGATGCCTC	0.637			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(604-606)gtG>gtA		cAMP responsive element binding protein 3-like 1							64.0	72.0	69.0					11																	46332593		2158	4251	6409	SO:0001819	synonymous_variant	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46332593G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.606G>A	11.37:g.46332593G>A						CREB3L1_ENST00000288400.3_Silent_p.V202V	p.V202V			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	5	1057	+			202					Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	c.606G>A	CCDS53620.1																																																																																				0.637	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		113	484	0	0	0	1	0	113	484				
KCNT1	57582	broad.mit.edu	37	9	138669337	138669337	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138669337G>A	ENST00000263604.3	+	21	2446	c.2446G>A	c.(2446-2448)Gtg>Atg	p.V816M	KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V835M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	816					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAACCCCATCGTGCTGCTGCT	0.657																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2503-2505)Gtg>Atg		potassium channel, subfamily T, member 1							61.0	52.0	55.0					9																	138669337		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669337G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2446G>A	9.37:g.138669337G>A	ENSP00000263604:p.Val816Met					KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V816M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M	p.V835M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2577	+		Myeloproliferative disorder(178;0.0821)	835					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2503G>A		.	.	.	.	.	.	.	.	.	.	G	15.62	2.886606	0.51908	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.37	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.82116	0.4967	M	0.84326	2.69	0.58432	D	0.999992	D;D;D;P	0.58268	0.97;0.97;0.982;0.881	B;B;P;B	0.45794	0.298;0.393;0.493;0.221	D	0.86747	0.1958	10	0.72032	D	0.01	-15.4357	16.9291	0.86184	0.0:0.0:1.0:0.0	.	802;835;790;816	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	790;835;835;794;802;816;814;816	ENSP00000417851:V790M;ENSP00000298480:V835M;ENSP00000360822:V835M;ENSP00000263604:V816M	ENSP00000263604:V816M	V	+	1	0	KCNT1	137809158	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	9.639000	0.98448	1.971000	0.57363	0.555000	0.69702	GTG		0.657	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		46	192	0	0	0	1	0	46	192				
KLHL36	79786	broad.mit.edu	37	16	84691069	84691069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691069C>T	ENST00000564996.1	+	3	797	c.656C>T	c.(655-657)aCg>aTg	p.T219M	KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	219	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGCTGACGCAGCAGCCC	0.667																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(655-657)aCg>aTg		kelch-like family member 36							27.0	25.0	26.0					16																	84691069		2184	4287	6471	SO:0001583	missense	79786							g.chr16:84691069C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.656C>T	16.37:g.84691069C>T	ENSP00000456743:p.Thr219Met					KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	p.T219M	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	797	+			219			BACK.		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.656C>T	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269783	0.59540	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69435	-0.4	5.53	5.53	0.82687	BTB/Kelch-associated (2);	0.180710	0.56097	D	0.000033	T	0.72203	0.3431	L	0.28274	0.84	0.47308	D	0.999388	D;D	0.71674	0.998;0.998	D;P	0.63703	0.917;0.891	T	0.74999	-0.3472	10	0.62326	D	0.03	.	18.4595	0.90734	0.0:1.0:0.0:0.0	.	219;219	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	M	219	ENSP00000258157:T219M	ENSP00000258157:T219M	T	+	2	0	KLHL36	83248570	0.947000	0.32204	0.999000	0.59377	0.989000	0.77384	3.012000	0.49575	2.587000	0.87381	0.563000	0.77884	ACG		0.667	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			98	220	0	0	0	1	0	98	220				
TMTC4	84899	broad.mit.edu	37	13	101287360	101287360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101287360C>T	ENST00000376234.3	-	10	1424	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	TMTC4_ENST00000342624.5_Missense_Mutation_p.R431H|TMTC4_ENST00000328767.5_Missense_Mutation_p.R301H|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	412						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGAGGACACGCTCTGCGAC	0.527																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1291-1293)cGt>cAt		transmembrane and tetratricopeptide repeat containing 4							75.0	68.0	70.0					13																	101287360		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101287360C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1235G>A	13.37:g.101287360C>T	ENSP00000365408:p.Arg412His					TMTC4_ENST00000328767.5_Missense_Mutation_p.R301H|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.R412H	p.R431H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			11	1550	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		412					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1292G>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789938	0.90367	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.69685	-0.42;-0.42;-0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.997;0.997	D	0.91246	0.5025	10	0.87932	D	0	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	301;412;412;431	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	H	412;431;301	ENSP00000365408:R412H;ENSP00000343871:R431H;ENSP00000365409:R301H	ENSP00000365409:R301H	R	-	2	0	TMTC4	100085361	1.000000	0.71417	0.955000	0.39395	0.438000	0.31896	7.693000	0.84214	2.584000	0.87258	0.563000	0.77884	CGT		0.527	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		22	170	0	0	0	1	0	22	170				
KCNC1	3746	broad.mit.edu	37	11	17757938	17757938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17757938G>A	ENST00000379472.3	+	1	419	c.389G>A	c.(388-390)aGc>aAc	p.S130N	KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	130					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CTGGACAACAGCGCCGACGAC	0.711																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(388-390)aGc>aAc		potassium voltage-gated channel, Shaw-related subfamily, member 1							13.0	16.0	15.0					11																	17757938		2187	4284	6471	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757938G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.389G>A	11.37:g.17757938G>A	ENSP00000368785:p.Ser130Asn					KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	p.S130N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	419	+			130					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.389G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597491	0.28445	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97016	-4.21;-4.21	5.18	4.26	0.50523	.	5.062450	0.00744	N	0.001033	D	0.90995	0.7168	N	0.03608	-0.345	0.34414	D	0.69675	B;B	0.16603	0.0;0.018	B;B	0.18263	0.001;0.021	T	0.75972	-0.3129	10	0.22706	T	0.39	.	11.7462	0.51821	0.0822:0.0:0.9178:0.0	.	130;130	Q3KNS8;P48547	.;KCNC1_HUMAN	N	130	ENSP00000265969:S130N;ENSP00000368785:S130N	ENSP00000265969:S130N	S	+	2	0	KCNC1	17714514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.591000	0.61019	1.173000	0.42796	0.561000	0.74099	AGC		0.711	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		39	111	0	0	0	1	0	39	111				
INTS5	80789	broad.mit.edu	37	11	62417038	62417038	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417038C>T	ENST00000330574.2	-	2	566	c.514G>A	c.(514-516)Gct>Act	p.A172T	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	172					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCATTAAGAGCGCCAGTAGCG	0.567																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(514-516)Gct>Act		integrator complex subunit 5							88.0	84.0	85.0					11																	62417038		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417038C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.514G>A	11.37:g.62417038C>T	ENSP00000327889:p.Ala172Thr						p.A172T	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	566	-			172					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.514G>A	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355687	0.41700	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.67	3.53	0.40419	.	0.190185	0.42294	D	0.000735	T	0.22044	0.0531	N	0.08118	0	0.30478	N	0.772596	B	0.09022	0.002	B	0.01281	0.0	T	0.11916	-1.0568	9	0.62326	D	0.03	.	8.3625	0.32367	0.7958:0.2042:0.0:0.0	.	172	Q6P9B9	INT5_HUMAN	T	172	.	ENSP00000327889:A172T	A	-	1	0	INTS5	62173614	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.979000	0.49313	0.826000	0.34661	-0.275000	0.10095	GCT		0.567	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		50	226	0	0	0	1	0	50	226				
ZNF426	79088	broad.mit.edu	37	19	9644530	9644530	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9644530T>C	ENST00000535489.1	-	3	566	c.230A>G	c.(229-231)aAc>aGc	p.N77S	ZNF426_ENST00000253115.2_Missense_Mutation_p.N77S|ZNF426_ENST00000593003.1_Missense_Mutation_p.N39S|ZNF426_ENST00000589289.1_Missense_Mutation_p.N77S			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGGCCAGGTTCTTGTAGTT	0.478																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(115-117)aAc>aGc		zinc finger protein 426							239.0	179.0	199.0					19																	9644530		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9644530T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.230A>G	19.37:g.9644530T>C	ENSP00000439017:p.Asn77Ser					ZNF426_ENST00000589289.1_Missense_Mutation_p.N77S|ZNF426_ENST00000535489.1_Missense_Mutation_p.N77S|ZNF426_ENST00000253115.2_Missense_Mutation_p.N77S	p.N39S			Q9BUY5	ZN426_HUMAN			3	593	-			77					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.116A>G	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708981	0.48517	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.02525	4.26;4.26	1.41	0.358	0.16084	Krueppel-associated box (4);	.	.	.	.	T	0.09335	0.0230	M	0.81682	2.555	0.09310	N	1	P;P	0.51057	0.941;0.941	P;P	0.60415	0.874;0.874	T	0.21999	-1.0229	9	0.59425	D	0.04	.	1.4957	0.02466	0.3116:0.2127:0.0:0.4757	.	64;77	Q59EH4;Q9BUY5	.;ZN426_HUMAN	S	64;77;77	ENSP00000253115:N77S;ENSP00000439017:N77S	ENSP00000253115:N77S	N	-	2	0	ZNF426	9505530	0.000000	0.05858	0.017000	0.16124	0.816000	0.46133	-0.969000	0.03813	0.046000	0.15833	0.260000	0.18958	AAC		0.478	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		45	490	0	0	0	1	0	45	490				
ROS1	6098	broad.mit.edu	37	6	117718173	117718173	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117718173A>G	ENST00000368508.3	-	7	882	c.684T>C	c.(682-684)taT>taC	p.Y228Y	ROS1_ENST00000368507.3_Silent_p.Y237Y|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	228	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCCTTAAGTTATAACCCAAAA	0.418			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(682-684)taT>taC		c-ros oncogene 1 , receptor tyrosine kinase							120.0	125.0	123.0					6																	117718173		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117718173A>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.684T>C	6.37:g.117718173A>G						ROS1_ENST00000368507.3_Silent_p.Y237Y|GOPC_ENST00000467125.1_Intron	p.Y228Y	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	7	882	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	228			Fibronectin type-III 2.		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.684T>C	CCDS5116.1																																																																																				0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			123	550	0	0	0	1	0	123	550				
MORN3	283385	broad.mit.edu	37	12	122107269	122107269	+	Missense_Mutation	SNP	C	C	T	rs190870395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107269C>T	ENST00000355329.3	-	1	291	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	41						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTTCCACTCGCCCACATAG	0.627											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18366	0.0		0.0	False		,,,				2504	0.0					ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(121-123)Gag>Aag		MORN repeat containing 3							123.0	97.0	106.0					12																	122107269		2203	4300	6503	SO:0001583	missense	283385							g.chr12:122107269C>T	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.121G>A	12.37:g.122107269C>T	ENSP00000347486:p.Glu41Lys		OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1516		p.E41K	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	291	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		41					Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.121G>A	CCDS31917.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.2	4.114304	0.77210	.	.	ENSG00000139714	ENST00000355329	T	0.62364	0.03	5.11	3.25	0.37280	.	0.052848	0.64402	D	0.000001	T	0.75421	0.3847	M	0.76938	2.355	0.43271	D	0.995226	D	0.89917	1.0	D	0.87578	0.998	T	0.74417	-0.3672	10	0.62326	D	0.03	.	7.7258	0.28759	0.0:0.747:0.1628:0.0902	.	41	Q6PF18	MORN3_HUMAN	K	41	ENSP00000347486:E41K	ENSP00000347486:E41K	E	-	1	0	MORN3	120591652	0.970000	0.33590	1.000000	0.80357	0.799000	0.45148	2.323000	0.43823	0.639000	0.30564	0.462000	0.41574	GAG		0.627	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		107	483	0	0	0	1	0	107	483				
ACAP2	23527	broad.mit.edu	37	3	195022900	195022900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195022900G>A	ENST00000326793.6	-	14	1350	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	374					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTCTTATCCAGCTTCTAAAAG	0.348																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1120-1122)Ctg>Ttg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							82.0	94.0	90.0					3																	195022900		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195022900G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1120C>T	3.37:g.195022900G>A							p.L374L	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			14	1350	-			374					A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.1120C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	7.774	0.708055	0.15239	.	.	ENSG00000114331	ENST00000439758	.	.	.	5.65	4.76	0.60689	.	.	.	.	.	T	0.60689	0.2288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58752	-0.7581	4	.	.	.	.	9.7794	0.40639	0.0746:0.1394:0.786:0.0	.	.	.	.	V	248	.	.	A	-	2	0	ACAP2	196504189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.765000	0.68834	1.357000	0.45904	0.591000	0.81541	GCT		0.348	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		27	735	0	0	0	1	0	27	735				
OR51I2	390064	broad.mit.edu	37	11	5475109	5475109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475109C>T	ENST00000341449.2	+	1	472	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	131					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCCCTTGCGCTATGCAAC	0.453																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(391-393)Cgc>Tgc		olfactory receptor, family 51, subfamily I, member 2							151.0	141.0	145.0					11																	5475109		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475109C>T	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.391C>T	11.37:g.5475109C>T	ENSP00000341987:p.Arg131Cys					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.R131C	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	472	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	131					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.391C>T	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621233	0.46736	.	.	ENSG00000187918	ENST00000341449	T	0.43294	0.95	5.58	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.633514	0.15660	N	0.250972	T	0.47488	0.1448	M	0.88377	2.95	0.30139	N	0.804088	D	0.54397	0.966	B	0.41271	0.352	T	0.61158	-0.7119	10	0.87932	D	0	.	8.0418	0.30526	0.2645:0.6605:0.0:0.0749	.	131	Q9H344	O51I2_HUMAN	C	131	ENSP00000341987:R131C	ENSP00000341987:R131C	R	+	1	0	OR51I2	5431685	0.015000	0.18098	0.666000	0.29783	0.725000	0.41563	0.265000	0.18515	1.596000	0.50062	0.655000	0.94253	CGC		0.453	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		110	504	0	0	0	1	0	110	504				
ATP13A4	84239	broad.mit.edu	37	3	193166086	193166086	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166086C>T	ENST00000342695.4	-	18	2383	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	ATP13A4_ENST00000392443.3_Silent_p.G668G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	687						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATCAGCAGCCCCAGAAATA	0.398																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2059-2061)ggG>ggA		ATPase type 13A4							119.0	112.0	114.0					3																	193166086		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166086C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2061G>A	3.37:g.193166086C>T						ATP13A4_ENST00000392443.3_Silent_p.G668G	p.G687G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2383	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		687					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2061G>A	CCDS3304.2																																																																																				0.398	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		70	364	0	0	0	1	0	70	364				
ACSL5	51703	broad.mit.edu	37	10	114170354	114170354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114170354G>A	ENST00000393081.1	+	9	1064	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K|ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|RP11-324O2.6_ENST00000424422.1_RNA|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K|RP11-324O2.3_ENST00000598447.1_RNA|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	253					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCCTAGCCCAGAAGACCTGAG	0.502																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(757-759)Gaa>Aaa		acyl-CoA synthetase long-chain family member 5							95.0	80.0	85.0					10																	114170354		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114170354G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.757G>A	10.37:g.114170354G>A	ENSP00000376796:p.Glu253Lys					ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K|ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K|ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K|ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K	p.E253K	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	9	1064	+		Colorectal(252;0.117)|Breast(234;0.222)	253					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.757G>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338077	0.60963	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.39	4.48	0.54585	AMP-dependent synthetase/ligase (1);	0.386932	0.31051	N	0.008355	T	0.16811	0.0404	M	0.71036	2.16	0.58432	D	0.999993	B;B;B;B	0.19073	0.01;0.033;0.016;0.019	B;B;B;B	0.23150	0.044;0.033;0.03;0.029	T	0.03095	-1.1073	10	0.49607	T	0.09	-19.5706	8.8461	0.35170	0.1669:0.0:0.8331:0.0	.	35;253;309;253	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	K	253;253;309;253;253;35	ENSP00000346680:E253K;ENSP00000376796:E253K;ENSP00000348429:E309K;ENSP00000403647:E253K;ENSP00000346223:E253K;ENSP00000358418:E35K	ENSP00000346223:E253K	E	+	1	0	ACSL5	114160344	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.136000	0.64783	2.524000	0.85096	0.655000	0.94253	GAA		0.502	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		29	153	0	0	0	1	0	29	153				
HMHA1	23526	broad.mit.edu	37	19	1074171	1074171	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1074171C>T	ENST00000313093.2	+	7	1090	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000586866.1_Silent_p.L291L|HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000590214.1_Silent_p.L314L|HMHA1_ENST00000543365.1_Silent_p.L170L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	287					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCACTGCTGTATGCCAA	0.652																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(859-861)Ctg>Ttg		histocompatibility (minor) HA-1							69.0	57.0	61.0					19																	1074171		2203	4300	6503	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1074171C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.859C>T	19.37:g.1074171C>T						HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000586866.1_Silent_p.L291L|HMHA1_ENST00000543365.1_Silent_p.L170L|HMHA1_ENST00000590214.1_Silent_p.L314L	p.L287L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1090	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	287					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.859C>T	CCDS32863.1																																																																																				0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			63	311	0	0	0	1	0	63	311				
ESYT3	83850	broad.mit.edu	37	3	138195085	138195085	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138195085T>C	ENST00000389567.4	+	21	2675	c.2489T>C	c.(2488-2490)aTg>aCg	p.M830T	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	830	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTTGTTCCCATGGAAGAAGTA	0.358																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2488-2490)aTg>aCg		extended synaptotagmin-like protein 3							104.0	99.0	101.0					3																	138195085		1828	4098	5926	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138195085T>C	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2489T>C	3.37:g.138195085T>C	ENSP00000374218:p.Met830Thr					ESYT3_ENST00000460133.1_3'UTR	p.M830T	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			21	2675	+			830			C2 3.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.2489T>C	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191359	0.38707	.	.	ENSG00000158220	ENST00000389567	T	0.68479	-0.33	5.16	5.16	0.70880	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261920	0.24681	U	0.036474	T	0.50531	0.1621	L	0.28740	0.885	0.80722	D	1	B	0.23128	0.08	B	0.27262	0.078	T	0.42799	-0.9430	10	0.13108	T	0.6	-8.2165	8.355	0.32324	0.1749:0.0:0.0:0.8251	.	830	A0FGR9	ESYT3_HUMAN	T	830	ENSP00000374218:M830T	ENSP00000374218:M830T	M	+	2	0	ESYT3	139677775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.088000	0.64486	2.173000	0.68751	0.374000	0.22700	ATG		0.358	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		66	273	0	0	0	1	0	66	273				
PHF1	5252	broad.mit.edu	37	6	33382062	33382062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382062C>T	ENST00000374516.3	+	9	1066	c.795C>T	c.(793-795)tgC>tgT	p.C265C	PHF1_ENST00000374512.3_Silent_p.C265C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	265					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCAGTGTTTGCTGTAAGAAGA	0.468											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(793-795)tgC>tgT		PHD finger protein 1							152.0	151.0	151.0					6																	33382062		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382062C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.795C>T	6.37:g.33382062C>T			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.C265C	p.C265C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			9	1066	+		Ovarian(999;0.0443)	265					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.795C>T	CCDS4777.1																																																																																				0.468	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			82	387	0	0	0	1	0	82	387				
CCDC141	285025	broad.mit.edu	37	2	179701839	179701839	+	Silent	SNP	G	G	A	rs13031147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701839G>A	ENST00000420890.2	-	23	4224	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F794F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1369										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGAGGCCCGAGAATGCATCAG	0.488																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(4105-4107)ttC>ttT		coiled-coil domain containing 141							42.0	43.0	42.0					2																	179701839		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179701839G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4107C>T	2.37:g.179701839G>A						CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F794F	p.F1369F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	4224	-			794					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.4107C>T																																																																																					0.488	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		56	152	0	0	0	1	0	56	152				
RRBP1	6238	broad.mit.edu	37	20	17610570	17610570	+	Missense_Mutation	SNP	G	G	A	rs147114989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17610570G>A	ENST00000377813.1	-	9	2950	c.2647C>T	c.(2647-2649)Cgc>Tgc	p.R883C	RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C|RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C|RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	883					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCGTCCAGGCGCTTCTGCAGG	0.697																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2647-2649)Cgc>Tgc		ribosome binding protein 1		G	CYS/ARG,CYS/ARG	0,4404		0,0,2202	22.0	23.0	23.0		1348,1348	2.2	1.0	20	dbSNP_134	23	1,8597		0,1,4298	no	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	180,180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	450/978,450/978	17610570	1,13001	2202	4299	6501	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17610570G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2647C>T	20.37:g.17610570G>A	ENSP00000367044:p.Arg883Cys					RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C|RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C|RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C	p.R883C			Q9P2E9	RRBP1_HUMAN			9	2950	-			883					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2647C>T		.	.	.	.	.	.	.	.	.	.	G	16.90	3.251294	0.59212	0.0	1.16E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.38	2.15	0.27550	.	0.000000	0.35936	N	0.002888	T	0.54382	0.1855	L	0.59436	1.845	0.58432	D	0.999991	D	0.89917	1.0	D	0.74674	0.984	T	0.55655	-0.8107	10	0.72032	D	0.01	-12.8453	8.4086	0.32629	0.0:0.1263:0.5658:0.3079	.	450	Q9P2E9-3	.	C	450;883;450;883;224	ENSP00000354045:R450C;ENSP00000367044:R883C;ENSP00000367038:R450C;ENSP00000246043:R883C;ENSP00000401206:R224C	ENSP00000246043:R883C	R	-	1	0	RRBP1	17558570	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.668000	0.37481	1.111000	0.41721	0.561000	0.74099	CGC		0.697	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		37	148	0	0	0	1	0	37	148				
HIVEP3	59269	broad.mit.edu	37	1	42048565	42048565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42048565C>T	ENST00000372583.1	-	4	2789	c.1904G>A	c.(1903-1905)gGt>gAt	p.G635D	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G635D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	635	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTTTTCAAACCCTTCTTGGT	0.478																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1903-1905)gGt>gAt		human immunodeficiency virus type I enhancer binding protein 3							136.0	134.0	135.0					1																	42048565		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048565C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1904G>A	1.37:g.42048565C>T	ENSP00000361664:p.Gly635Asp					HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G635D	p.G635D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2918	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	635			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1904G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884831	0.51908	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000057	T	0.37517	0.1006	L	0.36672	1.1	0.41696	D	0.989374	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.05386	-1.0888	10	0.37606	T	0.19	-12.2882	12.0853	0.53693	0.172:0.828:0.0:0.0	.	635;635	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	635	ENSP00000361665:G635D;ENSP00000361664:G635D;ENSP00000247584:G635D;ENSP00000410828:G635D	ENSP00000247584:G635D	G	-	2	0	HIVEP3	41821152	0.998000	0.40836	0.873000	0.34254	0.968000	0.65278	4.299000	0.59073	2.326000	0.78906	0.555000	0.69702	GGT		0.478	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		112	540	0	0	0	1	0	112	540				
BRF1	2972	broad.mit.edu	37	14	105677562	105677562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105677562G>A	ENST00000546474.1	-	17	16852	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000440513.3_Silent_p.S538S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	631					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACACGGGCCCGCTCTCCACCA	0.667																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1891-1893)agC>agT		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							45.0	44.0	44.0					14																	105677562		2202	4299	6501	SO:0001819	synonymous_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105677562G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1893C>T	14.37:g.105677562G>A						BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000440513.3_Silent_p.S538S|BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000551787.1_Intron	p.S631S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	17	16852	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	631					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	37	c.1893C>T	CCDS10001.1																																																																																				0.667	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		85	326	0	0	0	1	0	85	326				
LPL	4023	broad.mit.edu	37	8	19805714	19805714	+	Missense_Mutation	SNP	G	G	A	rs557015233	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19805714G>A	ENST00000311322.8	+	2	582	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	38					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TATCGACATCGAAAGTAAATT	0.418													G|||	4	0.000798722	0.0	0.0	5008	,	,		19664	0.0		0.0	False		,,,				2504	0.0041					ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(112-114)Gaa>Aaa		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						119.0	115.0	117.0					8																	19805714		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805714G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.112G>A	8.37:g.19805714G>A	ENSP00000309757:p.Glu38Lys					LPL_ENST00000521994.1_3'UTR	p.E38K	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	582	+			38					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.112G>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503993	0.44558	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.90732	-2.72;-2.72;-2.72	5.23	5.23	0.72850	Lipase, N-terminal (1);	0.149727	0.64402	D	0.000018	D	0.84597	0.5507	L	0.35542	1.07	0.34686	D	0.725273	P	0.41848	0.763	B	0.35413	0.202	D	0.86747	0.1958	8	.	.	.	-33.3413	16.6495	0.85185	0.0:0.0:1.0:0.0	.	38	P06858	LIPL_HUMAN	K	38;38;38;24	ENSP00000428237:E38K;ENSP00000428557:E38K;ENSP00000309757:E38K	.	E	+	1	0	LPL	19849994	1.000000	0.71417	0.990000	0.47175	0.449000	0.32228	5.307000	0.65762	2.599000	0.87857	0.655000	0.94253	GAA		0.418	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			118	569	0	0	0	1	0	118	569				
UBA6	55236	broad.mit.edu	37	4	68501275	68501275	+	Splice_Site	SNP	G	G	A	rs375294484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68501275G>A	ENST00000322244.5	-	20	1797	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	580					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCTAAGCAACGACTATTTGAA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17202	0.0		0.0	False		,,,				2504	0.0					ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.e20-1		ubiquitin-like modifier activating enzyme 6		G	CYS/ARG	0,4406		0,0,2203	85.0	79.0	81.0		1738	5.1	1.0	4		81	1,8599		0,1,4299	no	missense-near-splice	UBA6	NM_018227.5	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	580/1053	68501275	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68501275G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1737-1C>T	4.37:g.68501275G>A							p.R580_splice	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			20	1797	-			580					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Splice_Site	SNP	ENST00000322244.5	37	c.1736_splice	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558085	0.86231	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.44881	0.91	5.11	5.11	0.69529	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.058855	0.64402	D	0.000002	T	0.65407	0.2688	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.68864	-0.5296	10	0.66056	D	0.02	-19.9923	18.538	0.91018	0.0:0.0:1.0:0.0	.	580	A0AVT1	UBA6_HUMAN	C	580	ENSP00000313454:R580C	ENSP00000313454:R580C	R	-	1	0	UBA6	68183870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.194000	0.94962	2.379000	0.81126	0.460000	0.39030	CGT		0.363	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	Missense_Mutation	11	287	0	0	0	1	0	11	287				
KLHL18	23276	broad.mit.edu	37	3	47371497	47371497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47371497C>T	ENST00000232766.5	+	4	478	c.458C>T	c.(457-459)gCt>gTt	p.A153V	KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	153	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGATGTGTGCTGTGCTGTAC	0.493																																						ENST00000232766.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(457-459)gCt>gTt		kelch-like family member 18							124.0	120.0	121.0					3																	47371497		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47371497C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.458C>T	3.37:g.47371497C>T	ENSP00000232766:p.Ala153Val					KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	p.A153V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	4	478	+		Acute lymphoblastic leukemia(5;0.164)	153			BACK.		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.458C>T	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333086	0.60853	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.69040	-0.37;-0.37	4.94	4.94	0.65067	BTB/Kelch-associated (2);	0.059222	0.64402	D	0.000002	T	0.46054	0.1373	N	0.16066	0.365	0.58432	D	0.999997	P;B;B	0.40534	0.72;0.012;0.137	B;B;B	0.35182	0.197;0.02;0.058	T	0.47598	-0.9105	10	0.09590	T	0.72	.	16.8983	0.86106	0.0:1.0:0.0:0.0	.	4;153;88	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	V	153;41	ENSP00000232766:A153V;ENSP00000405585:A41V	ENSP00000232766:A153V	A	+	2	0	KLHL18	47346501	1.000000	0.71417	0.912000	0.35992	0.993000	0.82548	7.416000	0.80143	2.579000	0.87056	0.467000	0.42956	GCT		0.493	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		32	507	0	0	0	1	0	32	507				
CRABP1	1381	broad.mit.edu	37	15	78640310	78640310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78640310C>T	ENST00000299529.6	+	4	510	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	135					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	GAATTTATGTCCGAGAGTGAA	0.498																																					Ovarian(146;578 3231 38536)	ENST00000299529.6																			0				breast(1)|lung(4)|skin(1)	6						c.(403-405)gtC>gtT		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						161.0	145.0	150.0					15																	78640310		2196	4293	6489	SO:0001819	synonymous_variant	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78640310C>T		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.405C>T	15.37:g.78640310C>T							p.V135V	NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN			4	510	+			135					Q6IAY7|Q8WTV5	Silent	SNP	ENST00000299529.6	37	c.405C>T	CCDS10301.1																																																																																				0.498	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	NM_004378		64	375	0	0	0	1	0	64	375				
SLC28A1	9154	broad.mit.edu	37	15	85488368	85488368	+	Silent	SNP	G	G	A	rs376019418		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85488368G>A	ENST00000286749.3	+	18	1977	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.E463E|SLC28A1_ENST00000394573.1_Silent_p.E629E			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	629					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TCAATCCAGAGTTCAGCCCAG	0.557																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1885-1887)gaG>gaA		solute carrier family 28 (concentrative nucleoside transporter), member 1		G		1,4405	2.1+/-5.4	0,1,2202	145.0	127.0	133.0		1887	1.2	0.0	15		133	0,8598		0,0,4299	no	coding-synonymous	SLC28A1	NM_004213.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		629/650	85488368	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85488368G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1887G>A	15.37:g.85488368G>A						SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.E463E|SLC28A1_ENST00000286749.3_Silent_p.E629E|SLC28A1_ENST00000537216.1_Intron	p.E629E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		19	2089	+			629					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1887G>A	CCDS10334.1																																																																																				0.557	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			24	240	0	0	0	1	0	24	240				
WRNIP1	56897	broad.mit.edu	37	6	2784570	2784570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2784570C>T	ENST00000380773.4	+	6	1864	c.1655C>T	c.(1654-1656)cCg>cTg	p.P552L	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L|WRNIP1_ENST00000380769.4_Missense_Mutation_p.P332L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTGGCAGACCCGTCTGCGTTA	0.507																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(994-996)cCg>cTg		Werner helicase interacting protein 1							113.0	88.0	97.0					6																	2784570		2203	4300	6503	SO:0001583	missense	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2784570C>T	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1655C>T	6.37:g.2784570C>T	ENSP00000370150:p.Pro552Leu					WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L|WRNIP1_ENST00000380773.4_Missense_Mutation_p.P552L	p.P332L			Q96S55	WRIP1_HUMAN			6	1226	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	552						Missense_Mutation	SNP	ENST00000380773.4	37	c.995C>T	CCDS4475.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917728	0.92249	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.54071	0.6;0.59;0.67	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.66497	0.944;0.472	D	0.84723	0.0741	10	0.87932	D	0	-0.8257	18.5466	0.91048	0.0:1.0:0.0:0.0	.	527;552	Q96S55-2;Q96S55	.;WRIP1_HUMAN	L	552;527;332;168	ENSP00000370150:P552L;ENSP00000370148:P527L;ENSP00000370146:P332L	ENSP00000370141:P168L	P	+	2	0	WRNIP1	2729569	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	7.344000	0.79328	2.610000	0.88304	0.563000	0.77884	CCG		0.507	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		33	102	0	0	0	1	0	33	102				
NDUFA7	4701	broad.mit.edu	37	19	8381461	8381461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8381461C>T	ENST00000301457.2	-	3	207	c.170G>A	c.(169-171)cGc>cAc	p.R57H	NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	57					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						GCGGCCATCGCGAGTGCAATA	0.567																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(169-171)cGc>cAc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						68.0	75.0	73.0					19																	8381461		2019	4175	6194	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381461C>T	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.170G>A	19.37:g.8381461C>T	ENSP00000301457:p.Arg57His					NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	p.R57H	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	207	-			57						Missense_Mutation	SNP	ENST00000301457.2	37	c.170G>A	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201926	0.58234	.	.	ENSG00000167774	ENST00000301457	T	0.64803	-0.12	5.74	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.76002	2.32	0.37902	D	0.931084	P	0.39624	0.681	B	0.36030	0.216	T	0.70371	-0.4890	10	0.59425	D	0.04	-14.0334	13.361	0.60657	0.0:0.9236:0.0:0.0764	.	57	O95182	NDUA7_HUMAN	H	57	ENSP00000301457:R57H	ENSP00000301457:R57H	R	-	2	0	NDUFA7	8287461	1.000000	0.71417	0.121000	0.21740	0.555000	0.35460	7.429000	0.80309	1.424000	0.47217	0.561000	0.74099	CGC		0.567	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		94	410	0	0	0	1	0	94	410				
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59112065C>T	ENST00000390652.5	+	18	1752	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000589222.1_Missense_Mutation_p.S559L	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1675-1677)tCg>tTg		breast carcinoma amplified sequence 3							87.0	81.0	83.0					17																	59112065		1805	4080	5885	SO:0001583	missense	54828					nucleus		g.chr17:59112065C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1721C>T	17.37:g.59112065C>T	ENSP00000375067:p.Ser574Leu					BCAS3_ENST00000390652.5_Missense_Mutation_p.S574L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L	p.S559L			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		17	1744	+			574						Missense_Mutation	SNP	ENST00000390652.5	37	c.1676C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457450	0.96240	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.34275	1.43;1.39;1.37	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;D;D;D	0.69078	0.997;0.988;0.995;0.997;0.997;0.997	D;P;P;D;D;D	0.72982	0.979;0.569;0.731;0.964;0.979;0.964	T	0.49661	-0.8916	10	0.51188	T	0.08	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	350;559;574;559;574;559	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;BCAS3_HUMAN;.	L	574;559;589;559;351	ENSP00000375067:S574L;ENSP00000385323:S559L;ENSP00000386173:S559L	ENSP00000353336:S351L	S	+	2	0	BCAS3	56466847	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCG		0.348	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		84	295	0	0	0	1	0	84	295				
AADACL2	344752	broad.mit.edu	37	3	151475275	151475275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151475275G>A	ENST00000356517.3	+	5	1208	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	367						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGAACATATTGAGGATGGAAT	0.343																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(1099-1101)Gag>Aag		arylacetamide deacetylase-like 2							97.0	95.0	96.0					3																	151475275		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475275G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1099G>A	3.37:g.151475275G>A	ENSP00000348911:p.Glu367Lys					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.E367K	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1208	+			367					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.1099G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389903	0.61956	.	.	ENSG00000197953	ENST00000356517	T	0.60040	0.22	5.15	5.15	0.70609	Alpha/beta hydrolase fold-3 (1);	0.443069	0.25958	N	0.027210	T	0.75155	0.3811	M	0.77486	2.375	0.28532	N	0.912553	D	0.60575	0.988	P	0.61722	0.893	T	0.71807	-0.4481	10	0.62326	D	0.03	-38.0713	18.4096	0.90546	0.0:0.0:1.0:0.0	.	367	Q6P093	ADCL2_HUMAN	K	367	ENSP00000348911:E367K	ENSP00000348911:E367K	E	+	1	0	AADACL2	152957965	0.938000	0.31826	0.362000	0.25862	0.547000	0.35210	1.698000	0.37794	2.683000	0.91414	0.591000	0.81541	GAG		0.343	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		70	355	0	0	0	1	0	70	355				
CEP120	153241	broad.mit.edu	37	5	122713160	122713160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122713160G>A	ENST00000306467.5	-	16	2570	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	CEP120_ENST00000328236.5_Missense_Mutation_p.R756C|CEP120_ENST00000306481.6_Missense_Mutation_p.R730C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	756					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGGCCCTACGGATAGAGTCC	0.428																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2266-2268)Cgt>Tgt		centrosomal protein 120kDa							203.0	184.0	191.0					5																	122713160		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122713160G>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2266C>T	5.37:g.122713160G>A	ENSP00000303058:p.Arg756Cys					CEP120_ENST00000306481.6_Missense_Mutation_p.R730C|CEP120_ENST00000328236.5_Missense_Mutation_p.R756C	p.R756C			Q8N960	CE120_HUMAN			16	2570	-			756					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2266C>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392292	0.62066	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.76162	-0.3060	10	0.87932	D	0	-14.5195	13.5263	0.61597	0.0:0.0:0.7276:0.2723	.	756	Q8N960	CE120_HUMAN	C	756;756;730;730	ENSP00000303058:R756C;ENSP00000327504:R756C;ENSP00000307419:R730C;ENSP00000421620:R730C	ENSP00000303058:R756C	R	-	1	0	CEP120	122741059	1.000000	0.71417	0.872000	0.34217	0.718000	0.41266	4.425000	0.59875	2.767000	0.95098	0.655000	0.94253	CGT		0.428	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		129	541	0	0	0	1	0	129	541				
HOXD4	3233	broad.mit.edu	37	2	177016490	177016490	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:177016490C>T	ENST00000306324.3	+	1	541	c.129C>T	c.(127-129)ggC>ggT	p.G43G	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	43					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCGCGCAGGGCGCAGACTTCC	0.716																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(127-129)ggC>ggT		homeobox D4							18.0	21.0	20.0					2																	177016490		2186	4238	6424	SO:0001819	synonymous_variant	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177016490C>T		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.129C>T	2.37:g.177016490C>T						HOXD3_ENST00000468418.3_5'UTR	p.G43G	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	541	+			43					B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	37	c.129C>T	CCDS2269.1																																																																																				0.716	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			45	200	0	0	0	1	0	45	200				
SGIP1	84251	broad.mit.edu	37	1	67155901	67155901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67155901C>A	ENST00000371037.4	+	17	1549	c.1472C>A	c.(1471-1473)tCt>tAt	p.S491Y	SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	491	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCATTCATTCTTCCAGCCCT	0.453																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1471-1473)tCt>tAt		SH3-domain GRB2-like (endophilin) interacting protein 1							177.0	168.0	171.0					1																	67155901		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67155901C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1472C>A	1.37:g.67155901C>A	ENSP00000360076:p.Ser491Tyr					SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y	p.S491Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			17	1549	+			491			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1472C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939189	0.92526	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	6.04	6.04	0.98038	.	0.650667	0.17876	N	0.159010	T	0.15305	0.0369	M	0.64997	1.995	0.54753	D	0.999983	D;P;P;D	0.71674	0.998;0.826;0.826;0.963	D;P;P;P	0.78314	0.991;0.467;0.467;0.642	T	0.00326	-1.1815	10	0.56958	D	0.05	-11.7141	20.5792	0.99380	0.0:1.0:0.0:0.0	.	521;91;281;491	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	Y	522;292;281;521;494;291;491	ENSP00000237247:S522Y;ENSP00000360078:S292Y;ENSP00000360074:S281Y;ENSP00000360075:S291Y;ENSP00000360076:S491Y	ENSP00000237247:S522Y	S	+	2	0	SGIP1	66928489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.873000	0.98535	0.561000	0.74099	TCT		0.453	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		93	814	1	0	1.11079e-38	1	1.33978e-38	93	814				
LRFN5	145581	broad.mit.edu	37	14	42360508	42360508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360508A>G	ENST00000298119.4	+	4	2630	c.1441A>G	c.(1441-1443)Atg>Gtg	p.M481V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	481	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTGGAACTATGTATGACTT	0.403										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1441-1443)Atg>Gtg		leucine rich repeat and fibronectin type III domain containing 5							177.0	143.0	154.0					14																	42360508		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360508A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1441A>G	14.37:g.42360508A>G	ENSP00000298119:p.Met481Val	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.M481V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2630	+			481			Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1441A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	7.305	0.613840	0.14066	.	.	ENSG00000165379	ENST00000298119	T	0.67345	-0.26	5.88	3.54	0.40534	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.208081	0.33916	N	0.004434	T	0.44808	0.1311	N	0.22421	0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.33940	T	0.23	.	2.5238	0.04686	0.5668:0.0:0.2343:0.1989	.	481	Q96NI6	LRFN5_HUMAN	V	481	ENSP00000298119:M481V	ENSP00000298119:M481V	M	+	1	0	LRFN5	41430258	0.604000	0.26932	1.000000	0.80357	0.997000	0.91878	0.672000	0.25187	1.045000	0.40225	0.528000	0.53228	ATG		0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		149	618	0	0	0	1	0	149	618				
TLR2	7097	broad.mit.edu	37	4	154625213	154625213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154625213C>T	ENST00000260010.6	+	1	2562	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	385					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TGTGAGGATGCCTGGCCCTCT	0.348																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1153-1155)gCc>gTc		toll-like receptor 2							37.0	39.0	38.0					4																	154625213		2201	4300	6501	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625213C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1154C>T	4.37:g.154625213C>T	ENSP00000260010:p.Ala385Val						p.A385V	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	2562	+	all_hematologic(180;0.093)	Renal(120;0.117)	385					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1154C>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515517	0.27123	.	.	ENSG00000137462	ENST00000260010	T	0.21932	1.98	6.06	4.33	0.51752	.	0.194642	0.45361	D	0.000372	T	0.26521	0.0648	M	0.70595	2.14	0.38589	D	0.950384	P	0.36660	0.564	B	0.29176	0.099	T	0.23226	-1.0194	10	0.72032	D	0.01	.	18.8242	0.92109	0.0:0.7436:0.2564:0.0	.	385	O60603	TLR2_HUMAN	V	385	ENSP00000260010:A385V	ENSP00000260010:A385V	A	+	2	0	TLR2	154844663	0.001000	0.12720	0.966000	0.40874	0.974000	0.67602	-0.234000	0.09028	0.873000	0.35799	0.655000	0.94253	GCC		0.348	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			58	196	0	0	0	1	0	58	196				
FAM181A	90050	broad.mit.edu	37	14	94395237	94395237	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94395237C>A	ENST00000267594.5	+	3	1099	c.792C>A	c.(790-792)gtC>gtA	p.V264V	FAM181A_ENST00000556222.1_Silent_p.V202V|FAM181A_ENST00000557719.1_Silent_p.V202V|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Silent_p.V202V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	264										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCCTGGGGTCTCCTTGGTGG	0.622																																						ENST00000267594.5																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(790-792)gtC>gtA		family with sequence similarity 181, member A							53.0	51.0	51.0					14																	94395237		2203	4300	6503	SO:0001819	synonymous_variant	90050							g.chr14:94395237C>A	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.792C>A	14.37:g.94395237C>A						FAM181A_ENST00000557000.2_Silent_p.V202V|FAM181A_ENST00000557719.1_Silent_p.V202V|FAM181A_ENST00000556222.1_Silent_p.V202V	p.V264V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN			3	1099	+			264					B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	c.792C>A	CCDS9914.1																																																																																				0.622	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		20	190	1	0	2.4624e-09	1	2.59004e-09	20	190				
LRRIQ3	127255	broad.mit.edu	37	1	74492596	74492596	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74492596G>T	ENST00000395089.1	-	7	1775	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	LRRIQ3_ENST00000354431.4_Silent_p.A592A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	592										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTTTCAAAGGCAATCATAT	0.284																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1774-1776)gcC>gcA		leucine-rich repeats and IQ motif containing 3							96.0	86.0	89.0					1																	74492596		1801	4057	5858	SO:0001819	synonymous_variant	127255							g.chr1:74492596G>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1776C>A	1.37:g.74492596G>T						LRRIQ3_ENST00000395089.1_Silent_p.A592A	p.A592A	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			8	1967	-			592					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1776C>A	CCDS41350.1																																																																																				0.284	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	143	1	0	0.307466	1	0.307576	8	143				
KIF16B	55614	broad.mit.edu	37	20	16486701	16486701	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16486701G>T	ENST00000354981.2	-	8	991	c.834C>A	c.(832-834)tcC>tcA	p.S278S	KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.S278S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	278	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGTCACGAGGGACTTGTTAA	0.512																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(832-834)tcC>tcA		kinesin family member 16B							119.0	110.0	113.0					20																	16486701		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16486701G>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.834C>A	20.37:g.16486701G>T						KIF16B_ENST00000408042.1_Silent_p.S278S|KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000378003.2_5'UTR	p.S278S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			8	991	-			278			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.834C>A	CCDS13122.1																																																																																				0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		13	494	1	0	1.49906e-05	1	1.53515e-05	13	494				
EFCAB6	64800	broad.mit.edu	37	22	43950755	43950755	+	Silent	SNP	G	G	A	rs375120220		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43950755G>A	ENST00000262726.7	-	27	3895	c.3642C>T	c.(3640-3642)gaC>gaT	p.D1214D	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.D1062D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1214	EF-hand 14. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACCTGTTCGTCCGTCAGGA	0.512																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3640-3642)gaC>gaT		EF-hand calcium binding domain 6		G	,	0,4406		0,0,2203	119.0	106.0	110.0		3642,3186	-6.4	0.0	22		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EFCAB6	NM_022785.3,NM_198856.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1214/1502,1062/1350	43950755	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43950755G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3642C>T	22.37:g.43950755G>A						EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.D1062D	p.D1214D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			27	3895	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1214			EF-hand 14.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.3642C>T	CCDS14049.1																																																																																				0.512	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		95	401	0	0	0	1	0	95	401				
OAT	4942	broad.mit.edu	37	10	126100554	126100554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126100554C>A	ENST00000368845.5	-	2	279	c.187G>T	c.(187-189)Gag>Tag	p.E63*	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	63					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	TTTCCTCTCTCCAGGGCTACA	0.348																																						ENST00000368845.5																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(187-189)Gag>Tag		ornithine aminotransferase	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						113.0	109.0	111.0					10																	126100554		2203	4300	6503	SO:0001587	stop_gained	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126100554C>A	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.187G>T	10.37:g.126100554C>A	ENSP00000357838:p.Glu63*					OAT_ENST00000539214.1_Intron	p.E63*	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN			2	279	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	63					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Nonsense_Mutation	SNP	ENST00000368845.5	37	c.187G>T	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	36	5.787899	0.96945	.	.	ENSG00000065154	ENST00000368845	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.0584	16.7883	0.85580	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000357838:E63X	E	-	1	0	OAT	126090544	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.478000	0.81082	2.115000	0.64714	0.555000	0.69702	GAG		0.348	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		115	510	1	0	2.76158e-55	1	3.45054e-55	115	510				
WDR1	9948	broad.mit.edu	37	4	10100706	10100706	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10100706T>C	ENST00000499869.2	-	4	480	c.287A>G	c.(286-288)tAt>tGt	p.Y96C	WDR1_ENST00000382452.2_Missense_Mutation_p.Y96C|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	96					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGGTACTCATACTTCAACAG	0.582																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(286-288)tAt>tGt		WD repeat domain 1							115.0	118.0	117.0					4																	10100706		2011	4187	6198	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10100706T>C	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.287A>G	4.37:g.10100706T>C	ENSP00000427687:p.Tyr96Cys					WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.Y96C	p.Y96C	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	4	569	-			96					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.287A>G	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892974	0.72524	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	T;T;T	0.56103	0.48;0.48;0.57	5.91	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059555	0.64402	D	0.000001	T	0.70613	0.3244	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.70821	-0.4768	10	0.39692	T	0.17	-14.3005	11.6533	0.51301	0.1329:0.0:0.0:0.8671	.	96	O75083	WDR1_HUMAN	C	96;96;100	ENSP00000427687:Y96C;ENSP00000371890:Y96C;ENSP00000425481:Y100C	ENSP00000371890:Y96C	Y	-	2	0	WDR1	9709804	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.662000	0.83803	1.017000	0.39495	0.533000	0.62120	TAT		0.582	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			55	374	0	0	0	1	0	55	374				
DST	667	broad.mit.edu	37	6	56500405	56500405	+	Silent	SNP	G	G	A	rs147124522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56500405G>A	ENST00000361203.3	-	20	2542	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D	DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000370788.2_Silent_p.D845D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000370769.4_Silent_p.D845D|DST_ENST00000370754.5_Silent_p.D1023D|DST_ENST00000518935.1_Silent_p.D519D			Q03001	DYST_HUMAN	dystonin	845					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTGAACAAGGTCTTCTAGCT	0.343																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3067-3069)gaC>gaT		dystonin							126.0	113.0	117.0					6																	56500405		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56500405G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2535C>T	6.37:g.56500405G>A						DST_ENST00000370769.4_Silent_p.D845D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000361203.3_Silent_p.D845D|DST_ENST00000370788.2_Silent_p.D845D|DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000518935.1_Silent_p.D519D	p.D1023D			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3068	-	Lung NSC(77;0.103)		845					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.3069C>T																																																																																					0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		26	130	0	0	0	1	0	26	130				
IFT172	26160	broad.mit.edu	37	2	27680845	27680845	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27680845T>C	ENST00000260570.3	-	28	3079		c.e28-2			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172						bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACATATAGCCTGGGGAAGGAG	0.542																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.e28-2		intraflagellar transport 172 homolog (Chlamydomonas)							124.0	115.0	118.0					2																	27680845		2203	4300	6503	SO:0001630	splice_region_variant	26160				cilium assembly	cilium	binding	g.chr2:27680845T>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2976-2A>G	2.37:g.27680845T>C								NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			28	3079	-	Acute lymphoblastic leukemia(172;0.155)							A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Splice_Site	SNP	ENST00000260570.3	37		CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701772	0.48307	.	.	ENSG00000138002	ENST00000260570	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27534349	1.000000	0.71417	0.990000	0.47175	0.378000	0.30076	7.447000	0.80620	2.330000	0.79161	0.533000	0.62120	.		0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	Intron	121	346	0	0	0	1	0	121	346				
NR2C1	7181	broad.mit.edu	37	12	95416132	95416132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95416132G>T	ENST00000333003.5	-	14	2015	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	562					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGTGATGGTAGCATTCATCAG	0.358																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1684-1686)gCt>gAt		nuclear receptor subfamily 2, group C, member 1							205.0	218.0	213.0					12																	95416132		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95416132G>T	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1685C>A	12.37:g.95416132G>T	ENSP00000333275:p.Ala562Asp						p.A562D	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			14	2015	-			562					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1685C>A	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988099	0.53934	.	.	ENSG00000120798	ENST00000333003	D	0.96651	-4.08	5.74	4.85	0.62838	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.145103	0.64402	D	0.000008	D	0.97810	0.9281	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97793	1.0239	10	0.44086	T	0.13	.	14.9741	0.71257	0.0686:0.0:0.9314:0.0	.	562	P13056	NR2C1_HUMAN	D	562	ENSP00000333275:A562D	ENSP00000333275:A562D	A	-	2	0	NR2C1	93940263	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.869000	0.99810	1.443000	0.47586	-0.156000	0.13503	GCT		0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		172	849	1	0	3.62647e-66	1	4.58788e-66	172	849				
SKP2	6502	broad.mit.edu	37	5	36163852	36163852	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36163852G>A	ENST00000274255.6	+	3	582	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SKP2_ENST00000274254.5_Missense_Mutation_p.R129H|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	129	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGGTATCGCCTAGCGTAA	0.468																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(385-387)cGc>cAc		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							130.0	111.0	117.0					5																	36163852		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36163852G>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.386G>A	5.37:g.36163852G>A	ENSP00000274255:p.Arg129His					SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.R129H|SKP2_ENST00000546211.1_Intron	p.R129H	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	582	+	all_lung(31;5.63e-05)		129			F-box.		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.386G>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251126	0.39797	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151	T;T;T	0.49139	0.79;0.79;0.79	4.92	3.98	0.46160	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.302114	0.42548	N	0.000698	T	0.39545	0.1082	L	0.61218	1.895	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	T	0.21245	-1.0251	10	0.20519	T	0.43	-0.2876	6.773	0.23604	0.1526:0.0:0.8474:0.0	.	129;129	Q13309-2;Q13309	.;SKP2_HUMAN	H	129;129;95;129	ENSP00000274254:R129H;ENSP00000274255:R129H;ENSP00000423188:R129H	ENSP00000274254:R129H	R	+	2	0	SKP2	36199609	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.403000	0.66338	1.287000	0.44583	0.650000	0.86243	CGC		0.468	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		6	235	0	0	0	1	0	6	235				
FGFR3	2261	broad.mit.edu	37	4	1801214	1801214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1801214C>T	ENST00000260795.2	+	2	445	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000340107.4_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q115*			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	115	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCGGCTCACGCAGCGCGTACT	0.697		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(343-345)Cag>Tag		fibroblast growth factor receptor 3	Palifermin(DB00039)																																			SO:0001587	stop_gained	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1801214C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.343C>T	4.37:g.1801214C>T	ENSP00000260795:p.Gln115*					FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000260795.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*	p.Q115*	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		3	599	+		Breast(71;0.212)|all_epithelial(65;0.241)	115			Ig-like C2-type 1.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Nonsense_Mutation	SNP	ENST00000260795.2	37	c.343C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	14.20	2.463235	0.43736	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	.	.	.	3.45	3.45	0.39498	.	0.418094	0.24249	N	0.040184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	8.8206	0.35023	0.2245:0.7755:0.0:0.0	.	.	.	.	X	115	.	ENSP00000260795:Q115X	Q	+	1	0	FGFR3	1771012	0.000000	0.05858	0.058000	0.19502	0.197000	0.23852	-0.292000	0.08332	1.855000	0.53841	0.407000	0.27541	CAG		0.697	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		4	53	0	0	0	1	0	4	53				
KDR	3791	broad.mit.edu	37	4	55987321	55987321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55987321C>A	ENST00000263923.4	-	2	399	c.104G>T	c.(103-105)aGc>aTc	p.S35I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	35					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGTATGCTGAGCCTGGG	0.348			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(103-105)aGc>aTc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						129.0	133.0	132.0					4																	55987321		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55987321C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.104G>T	4.37:g.55987321C>A	ENSP00000263923:p.Ser35Ile	TSP Lung(20;0.16)					p.S35I	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		2	399	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		35					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.104G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476757	0.44044	.	.	ENSG00000128052	ENST00000263923	T	0.35236	1.32	5.83	4.99	0.66335	Immunoglobulin-like fold (1);	0.086710	0.85682	D	0.000000	T	0.59649	0.2209	M	0.76328	2.33	0.48185	D	0.9996	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.889	T	0.64158	-0.6473	10	0.72032	D	0.01	.	13.211	0.59825	0.0:0.9264:0.0:0.0736	.	35;35	P35968-2;P35968	.;VGFR2_HUMAN	I	35	ENSP00000263923:S35I	ENSP00000263923:S35I	S	-	2	0	KDR	55682078	1.000000	0.71417	0.987000	0.45799	0.320000	0.28249	2.945000	0.49043	1.478000	0.48253	-0.142000	0.14014	AGC		0.348	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			61	244	1	0	5.62145e-24	1	6.41091e-24	61	244				
PTK6	5753	broad.mit.edu	37	20	62166298	62166298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62166298G>A	ENST00000217185.2	-	2	372	c.345C>T	c.(343-345)gtC>gtT	p.V115V	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	115	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CACCCGACAGGACGTAGTCGG	0.706																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(343-345)gtC>gtT		protein tyrosine kinase 6							12.0	15.0	14.0					20																	62166298		2179	4279	6458	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62166298G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.345C>T	20.37:g.62166298G>A						PTK6_ENST00000542869.1_Intron	p.V115V	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		2	372	-	all_cancers(38;2.51e-11)		115			SH2.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.345C>T	CCDS13524.1																																																																																				0.706	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			25	69	0	0	0	1	0	25	69				
PRDM13	59336	broad.mit.edu	37	6	100062174	100062174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100062174G>T	ENST00000369215.4	+	4	1968	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	555	Poly-Gly.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ggcggcgggaggcaccggggg	0.701																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1693-1695)Ggc>Tgc		PR domain containing 13							7.0	12.0	10.0					6																	100062174		1962	4076	6038	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062174G>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1663G>T	6.37:g.100062174G>T	ENSP00000358217:p.Gly555Cys					PRDM13_ENST00000369215.4_Missense_Mutation_p.G555C	p.G565C	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1954	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	555			Poly-Gly.		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.1693G>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159080	0.21454	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.08546	3.08;3.08	3.73	0.86	0.19042	.	0.843515	0.09643	N	0.774793	T	0.01905	0.0060	L	0.27053	0.805	0.09310	N	1	P	0.50369	0.934	B	0.40901	0.343	T	0.42310	-0.9459	10	0.72032	D	0.01	-4.5986	4.1491	0.10230	0.1901:0.0:0.4939:0.316	.	555	Q9H4Q3	PRD13_HUMAN	C	555;565	ENSP00000358217:G555C;ENSP00000358216:G565C	ENSP00000358216:G565C	G	+	1	0	PRDM13	100168895	0.918000	0.31147	0.000000	0.03702	0.229000	0.25112	0.923000	0.28757	0.053000	0.16036	0.561000	0.74099	GGC		0.701	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			12	106	1	0	5.16669e-11	1	5.49905e-11	12	106				
KIAA0907	22889	broad.mit.edu	37	1	155891297	155891297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155891297C>A	ENST00000368321.3	-	10	1158	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Nonsense_Mutation_p.G379*|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGGTACTCCGTAGGGAGGT	0.517																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1135-1137)Gga>Tga		KIAA0907							119.0	108.0	112.0					1																	155891297		2203	4300	6503	SO:0001587	stop_gained	22889							g.chr1:155891297C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1135G>T	1.37:g.155891297C>A	ENSP00000357304:p.Gly379*					KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.G379*|KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L|KIAA0907_ENST00000482337.1_5'UTR	p.G379*			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		10	1160	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		379			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Nonsense_Mutation	SNP	ENST00000368321.3	37	c.1135G>T	CCDS30885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.014091|5.014091	0.93404|0.93404	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368321;ENST00000368320|ENST00000368319	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.241207|.	0.42548|.	D|.	0.000698|.	.|T	.|0.17789	.|0.0427	.|.	.|.	.|.	0.19300|0.19300	N|N	0.999979|0.999979	.|B	.|0.10296	.|0.003	.|B	.|0.17433	.|0.018	.|T	.|0.07065	.|-1.0792	.|7	0.44086|0.12103	T|T	0.13|0.63	-8.6237|-8.6237	19.2427|19.2427	0.93889|0.93889	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|345	.|Q7Z7F0-3	.|.	X|L	379|345	.|.	ENSP00000357303:G379X|ENSP00000357302:R345L	G|R	-|-	1|2	0|0	KIAA0907|KIAA0907	154157921|154157921	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	3.274000|3.274000	0.51631|0.51631	2.644000|2.644000	0.89710|0.89710	0.491000|0.491000	0.48974|0.48974	GGA|CGG		0.517	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		61	333	1	0	5.47352e-35	1	6.52624e-35	61	333				
PLA2G3	50487	broad.mit.edu	37	22	31535981	31535981	+	Silent	SNP	C	C	T	rs149748193	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31535981C>T	ENST00000215885.3	-	1	612	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	120					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCCTCAAGCGCTCGGCATG	0.637													C|||	9	0.00179712	0.0068	0.0	5008	,	,		17025	0.0		0.0	False		,,,				2504	0.0					ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(358-360)gcG>gcA		phospholipase A2, group III		C		6,4400	11.4+/-27.6	0,6,2197	57.0	55.0	56.0		360	-3.9	0.0	22	dbSNP_134	56	0,8600		0,0,4300	yes	coding-synonymous	PLA2G3	NM_015715.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		120/510	31535981	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31535981C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.360G>A	22.37:g.31535981C>T							p.A120A	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			1	612	-			120					O95768	Silent	SNP	ENST00000215885.3	37	c.360G>A	CCDS13889.1																																																																																				0.637	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		51	214	0	0	0	1	0	51	214				
CBR3	874	broad.mit.edu	37	21	37504774	37504774	+	5'Flank	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37504774T>C	ENST00000290354.5	+	0	0				CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3						cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	GCTGGGTTTGTTGCCAAACTT	0.493																																						ENST00000413862.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr21:37504774T>C	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617		21.37:g.37504774T>C	Exception_encountered					CBR3-AS1_ENST00000453159.1_RNA		NR_038892.1						0	852	-								Q6FHP2	RNA	SNP	ENST00000290354.5	37		CCDS13642.1																																																																																				0.493	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			6	49	0	0	0	1	0	6	49				
PODXL	5420	broad.mit.edu	37	7	131189129	131189129	+	Missense_Mutation	SNP	C	C	T	rs139425581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189129C>T	ENST00000378555.3	-	9	1865	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	PODXL_ENST00000541194.1_Missense_Mutation_p.V542I|PODXL_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000322985.9_Missense_Mutation_p.V508I			O00592	PODXL_HUMAN	podocalyxin-like	540					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCCAGAGGGACGATCCAGCTG	0.582													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		19169	0.0		0.0	False		,,,				2504	0.0					ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1624-1626)Gtc>Atc		podocalyxin-like		C	ILE/VAL,ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	146.0	121.0	129.0		1618,1522	5.7	1.0	7	dbSNP_134	129	0,8600		0,0,4300	yes	missense,missense	PODXL	NM_001018111.2,NM_005397.3	29,29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging,probably-damaging	540/559,508/527	131189129	7,12999	2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131189129C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1618G>A	7.37:g.131189129C>T	ENSP00000367817:p.Val540Ile					PODXL_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000378555.3_Missense_Mutation_p.V540I|PODXL_ENST00000322985.9_Missense_Mutation_p.V508I	p.V542I	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			9	1881	-	Melanoma(18;0.162)		540					A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.1624G>A	CCDS34755.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	29.8	5.032775	0.93575	0.001589	0.0	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.42086	0.1187	M	0.74881	2.28	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.47381	-0.9122	10	0.87932	D	0	-42.4028	12.0939	0.53744	0.0:0.9222:0.0:0.0778	.	508;540	O00592-2;O00592	.;PODXL_HUMAN	I	542;508;498;540;508	ENSP00000440518:V542I;ENSP00000442655:V508I;ENSP00000367817:V540I;ENSP00000319782:V508I	ENSP00000319782:V508I	V	-	1	0	PODXL	130839669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.662000	0.90505	0.555000	0.69702	GTC		0.582	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		55	282	0	0	0	1	0	55	282				
HCFC2	29915	broad.mit.edu	37	12	104461826	104461826	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104461826A>C	ENST00000229330.4	+	3	518	c.414A>C	c.(412-414)aaA>aaC	p.K138N		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	138					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGGTAACAAATGCTATTTGT	0.413																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(412-414)aaA>aaC		host cell factor C2							207.0	198.0	201.0					12																	104461826		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104461826A>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.414A>C	12.37:g.104461826A>C	ENSP00000229330:p.Lys138Asn						p.K138N	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			3	518	+			138					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.414A>C	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005505	0.74932	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T;T	0.70282	-0.47;-0.33	5.45	4.15	0.48705	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	M	0.79693	2.465	0.51233	D	0.99991	D	0.76494	0.999	D	0.80764	0.994	T	0.81675	-0.0825	10	0.66056	D	0.02	-20.5373	5.5982	0.17339	0.8047:0.0:0.1953:0.0	.	138	Q9Y5Z7	HCFC2_HUMAN	N	138;49	ENSP00000229330:K138N;ENSP00000447952:K49N	ENSP00000229330:K138N	K	+	3	2	HCFC2	102985956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.377000	0.34317	2.197000	0.70478	0.402000	0.26972	AAA		0.413	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		207	835	0	0	0	1	0	207	835				
NPY1R	4886	broad.mit.edu	37	4	164246499	164246499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246499C>T	ENST00000296533.2	-	3	1642	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	371					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTTAAATGCGACTGGGCTT	0.383																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(1111-1113)Gca>Aca		neuropeptide Y receptor Y1							147.0	149.0	148.0					4																	164246499		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246499C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1111G>A	4.37:g.164246499C>T	ENSP00000354652:p.Ala371Thr					NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	p.A371T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1642	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	371					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.1111G>A	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096279	0.20552	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.71103	-0.54;-0.06	5.69	2.95	0.34219	.	0.436137	0.22431	N	0.060155	T	0.43875	0.1267	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20638	-1.0269	10	0.14252	T	0.57	.	7.0591	0.25115	0.1217:0.6822:0.0:0.196	.	371	P25929	NPY1R_HUMAN	T	371;128	ENSP00000354652:A371T;ENSP00000427284:A128T	ENSP00000354652:A371T	A	-	1	0	NPY1R	164465949	0.014000	0.17966	0.201000	0.23476	0.943000	0.58893	0.049000	0.14099	0.722000	0.32252	0.655000	0.94253	GCA		0.383	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			101	636	0	0	0	1	0	101	636				
HOXD12	3238	broad.mit.edu	37	2	176964670	176964670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964670C>T	ENST00000406506.2	+	1	213	c.141C>T	c.(139-141)ggC>ggT	p.G47G	HOXD12_ENST00000404162.2_Silent_p.G47G			P35452	HXD12_HUMAN	homeobox D12	47				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044). {ECO:0000305}.	embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACCCGCGCGGCGCGCTGCCCT	0.711																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(139-141)ggC>ggT		homeobox D12							20.0	23.0	22.0					2																	176964670		1796	4038	5834	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964670C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.141C>T	2.37:g.176964670C>T						HOXD12_ENST00000404162.2_Silent_p.G47G	p.G47G			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	213	+			47	GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).				B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.141C>T	CCDS46456.1																																																																																				0.711	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		132	277	0	0	0	1	0	132	277				
KIAA0319L	79932	broad.mit.edu	37	1	35900633	35900633	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35900633C>A	ENST00000325722.3	-	21	3246	c.3012G>T	c.(3010-3012)gaG>gaT	p.E1004D	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1004						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGCTCTGACTCGGAGTGCA	0.542																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(3010-3012)gaG>gaT		KIAA0319-like							100.0	88.0	92.0					1																	35900633		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35900633C>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3012G>T	1.37:g.35900633C>A	ENSP00000318406:p.Glu1004Asp					KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	p.E1004D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			21	3246	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1004					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.3012G>T	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313141	0.40895	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.10860	3.01;2.83;2.92	4.94	0.794	0.18638	.	0.047201	0.85682	D	0.000000	T	0.08447	0.0210	L	0.40543	1.245	0.80722	D	1	B;B	0.27765	0.188;0.018	B;B	0.24974	0.057;0.013	T	0.22243	-1.0222	10	0.42905	T	0.14	-16.1955	8.7575	0.34654	0.0:0.617:0.0:0.383	.	1004;446	Q8IZA0;Q8IZA0-3	K319L_HUMAN;.	D	1004;441;1004	ENSP00000318406:E1004D;ENSP00000362363:E441D;ENSP00000395883:E1004D	ENSP00000318406:E1004D	E	-	3	2	KIAA0319L	35673220	1.000000	0.71417	0.874000	0.34290	0.972000	0.66771	0.998000	0.29744	0.132000	0.18615	0.563000	0.77884	GAG		0.542	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		59	217	1	0	2.50483e-33	1	2.96817e-33	59	217				
NUP88	4927	broad.mit.edu	37	17	5302881	5302881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5302881G>T	ENST00000573584.1	-	8	1791	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	428					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L428I(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGATCCAAGAAATTTGTGA	0.343																																						ENST00000573584.1																			1	Substitution - Missense(1)	p.L428I(1)	large_intestine(1)	endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(1282-1284)Ctt>Att		nucleoporin 88kDa							74.0	70.0	71.0					17																	5302881		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5302881G>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1282C>A	17.37:g.5302881G>T	ENSP00000458954:p.Leu428Ile						p.L428I	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			8	1791	-			428					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.1282C>A	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022303	0.54683	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.59436	1.845	0.58432	D	0.999993	P;B;D	0.69078	0.476;0.288;0.997	B;B;D	0.85130	0.159;0.069;0.997	T	0.74420	-0.3671	9	0.39692	T	0.17	-0.711	16.987	0.86342	0.0:0.0:1.0:0.0	.	428;297;428	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	I	428;297	.	ENSP00000225696:L428I	L	-	1	0	NUP88	5243605	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.784000	0.75084	2.580000	0.87095	0.460000	0.39030	CTT		0.343	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		43	158	1	0	2.47872e-24	1	2.8326e-24	43	158				
MOV10	4343	broad.mit.edu	37	1	113242307	113242307	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242307G>A	ENST00000413052.2	+	18	2974	c.2584G>A	c.(2584-2586)Gtg>Atg	p.V862M	MOV10_ENST00000369644.1_Splice_Site_p.V806M|MOV10_ENST00000369645.1_Splice_Site_p.V862M|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Splice_Site_p.V862M	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	862					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V862L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCCCACTAGGTGGGTTCAGT	0.567																																						ENST00000369644.1																			1	Substitution - Missense(1)	p.V862L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.e19-1		Mov10, Moloney leukemia virus 10, homolog (mouse)							99.0	101.0	100.0					1																	113242307		2203	4300	6503	SO:0001630	splice_region_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113242307G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2584-1G>A	1.37:g.113242307G>A						MOV10_ENST00000357443.2_Splice_Site_p.V862_splice|MOV10_ENST00000369645.1_Splice_Site_p.V862_splice|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Splice_Site_p.V862_splice	p.V806_splice			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	19	3445	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	862					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Splice_Site	SNP	ENST00000413052.2	37	c.2415_splice	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946698	0.73672	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98951	1.0794	10	0.87932	D	0	-15.4699	15.9968	0.80256	0.0:0.0:1.0:0.0	.	862	Q9HCE1	MOV10_HUMAN	M	862;862;806;862;800	ENSP00000399797:V862M;ENSP00000358659:V862M;ENSP00000358658:V806M;ENSP00000350028:V862M	ENSP00000350028:V862M	V	+	1	0	MOV10	113043830	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.866000	0.99616	2.311000	0.77944	0.467000	0.42956	GTG		0.567	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	Missense_Mutation	60	491	0	0	0	1	0	60	491				
HMHA1	23526	broad.mit.edu	37	19	1081636	1081636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1081636G>A	ENST00000313093.2	+	18	2509	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HMHA1_ENST00000539243.2_Missense_Mutation_p.G776S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S|HMHA1_ENST00000590214.1_Missense_Mutation_p.G787S|HMHA1_ENST00000543365.1_Missense_Mutation_p.G643S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	760					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGTTCGGCCAGGACTT	0.677																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2278-2280)Ggc>Agc		histocompatibility (minor) HA-1							6.0	8.0	7.0					19																	1081636		2147	4220	6367	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1081636G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2278G>A	19.37:g.1081636G>A	ENSP00000316772:p.Gly760Ser					HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000539243.2_Missense_Mutation_p.G776S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000543365.1_Missense_Mutation_p.G643S|HMHA1_ENST00000590214.1_Missense_Mutation_p.G787S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S	p.G760S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2509	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	760					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.2278G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.684633	0.88639	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.37584	1.21;1.23;1.22;1.19	4.4	4.4	0.53042	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.86953	2.85	0.80722	D	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;0.995;1.0;0.999	T	0.74084	-0.3779	10	0.87932	D	0	-34.3441	15.9856	0.80151	0.0:0.0:1.0:0.0	.	628;776;395;643;760	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	S	776;760;760;628;754;643	ENSP00000439601:G776S;ENSP00000316772:G760S;ENSP00000445109:G628S;ENSP00000438979:G643S	ENSP00000316772:G760S	G	+	1	0	HMHA1	1032636	1.000000	0.71417	0.998000	0.56505	0.429000	0.31625	9.114000	0.94329	1.993000	0.58246	0.550000	0.68814	GGC		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			8	41	0	0	0	1	0	8	41				
SST	6750	broad.mit.edu	37	3	187386950	187386950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386950T>G	ENST00000287641.3	-	2	361	c.254A>C	c.(253-255)gAg>gCg	p.E85A		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	85					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	TCTCTGCAGCTCAAGCCTCAT	0.517																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(253-255)gAg>gCg		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						257.0	242.0	247.0					3																	187386950		2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386950T>G		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.254A>C	3.37:g.187386950T>G	ENSP00000287641:p.Glu85Ala						p.E85A	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	361	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		85					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.254A>C	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344256	0.82022	.	.	ENSG00000157005	ENST00000287641	T	0.38887	1.11	5.51	5.51	0.81932	.	0.090474	0.85682	D	0.000000	T	0.66237	0.2769	M	0.79926	2.475	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.71234	-0.4653	10	0.72032	D	0.01	1.252	14.8038	0.69935	0.0:0.0:0.0:1.0	.	85	P61278	SMS_HUMAN	A	85	ENSP00000287641:E85A	ENSP00000287641:E85A	E	-	2	0	SST	188869644	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.698000	0.84413	2.092000	0.63282	0.254000	0.18369	GAG		0.517	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		304	1179	0	0	0	1	0	304	1179				
TMEM52B	120939	broad.mit.edu	37	12	10342543	10342543	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10342543C>A	ENST00000381923.2	+	6	760	c.356C>A	c.(355-357)gCt>gAt	p.A119D	TMEM52B_ENST00000298530.3_Missense_Mutation_p.A99D|TMEM52B_ENST00000536952.1_Missense_Mutation_p.A119D			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	119						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTGGCTGTGGCTCACTCCCAC	0.562																																						ENST00000298530.3																			0											c.(295-297)gCt>gAt		transmembrane protein 52B							89.0	78.0	81.0					12																	10342543		2203	4300	6503	SO:0001583	missense	120939							g.chr12:10342543C>A	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.356C>A	12.37:g.10342543C>A	ENSP00000371348:p.Ala119Asp					TMEM52B_ENST00000536952.1_Missense_Mutation_p.A119D|TMEM52B_ENST00000381923.2_Missense_Mutation_p.A119D	p.A99D	NM_153022.2	NP_694567.1					4	874	+								Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37	c.296C>A		.	.	.	.	.	.	.	.	.	.	C	18.18	3.567364	0.65651	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.32753	1.44;1.44;1.44	4.39	4.39	0.52855	.	0.274240	0.30840	N	0.008771	T	0.43055	0.1230	L	0.56769	1.78	0.38368	D	0.944802	P;P	0.51351	0.944;0.944	P;P	0.52957	0.714;0.628	T	0.48703	-0.9012	10	0.54805	T	0.06	-8.5221	14.8378	0.70197	0.0:1.0:0.0:0.0	.	119;99	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	D	119;99;119	ENSP00000371348:A119D;ENSP00000298530:A99D;ENSP00000446102:A119D	ENSP00000298530:A99D	A	+	2	0	C12orf59	10233810	1.000000	0.71417	0.744000	0.31058	0.650000	0.38633	4.753000	0.62183	2.427000	0.82271	0.585000	0.79938	GCT		0.562	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		52	218	1	0	1.86633e-21	1	2.10207e-21	52	218				
KLHL10	317719	broad.mit.edu	37	17	39998189	39998189	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998189T>C	ENST00000293303.4	+	2	462	c.309T>C	c.(307-309)ccT>ccC	p.P103P	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GGACCGTGCCTATCACACCGG	0.493																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(307-309)ccT>ccC		kelch-like family member 10							127.0	117.0	120.0					17																	39998189		1984	4172	6156	SO:0001819	synonymous_variant	317719					cytoplasm		g.chr17:39998189T>C	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.309T>C	17.37:g.39998189T>C						KLHL10_ENST00000485613.1_3'UTR	p.P103P	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			2	462	+		Breast(137;0.000162)	103			BTB.		Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	c.309T>C	CCDS42340.1																																																																																				0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		93	352	0	0	0	1	0	93	352				
LRRIQ3	127255	broad.mit.edu	37	1	74649258	74649258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74649258G>A	ENST00000395089.1	-	1	110	c.111C>T	c.(109-111)ggC>ggT	p.G37G	LRRIQ3_ENST00000370911.3_Silent_p.G37G|LRRIQ3_ENST00000370909.2_Silent_p.G37G|LRRIQ3_ENST00000354431.4_Silent_p.G37G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	37										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ttaaatgaaggccattgaact	0.333																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(109-111)ggC>ggT		leucine-rich repeats and IQ motif containing 3							57.0	60.0	59.0					1																	74649258		2201	4296	6497	SO:0001819	synonymous_variant	127255							g.chr1:74649258G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.111C>T	1.37:g.74649258G>A						LRRIQ3_ENST00000370909.2_Silent_p.G37G|LRRIQ3_ENST00000370911.3_Silent_p.G37G|LRRIQ3_ENST00000395089.1_Silent_p.G37G	p.G37G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			2	302	-			37					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.111C>T	CCDS41350.1																																																																																				0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		31	141	0	0	0	1	0	31	141				
ADAMTS3	9508	broad.mit.edu	37	4	73181645	73181645	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73181645G>T	ENST00000286657.4	-	11	1565	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	510	Disintegrin.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGATTATCAGGATGGCTACA	0.403																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1528-1530)cCt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							100.0	95.0	97.0					4																	73181645		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73181645G>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1529C>A	4.37:g.73181645G>T	ENSP00000286657:p.Pro510His						p.P510H	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1565	-			510			Disintegrin.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1529C>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426721	0.83667	.	.	ENSG00000156140	ENST00000286657	T	0.65732	-0.17	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80144	-0.1505	10	0.66056	D	0.02	.	14.4007	0.67044	0.071:0.0:0.929:0.0	.	510	O15072	ATS3_HUMAN	H	510	ENSP00000286657:P510H	ENSP00000286657:P510H	P	-	2	0	ADAMTS3	73400509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	1.377000	0.46286	0.655000	0.94253	CCT		0.403	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			41	211	1	0	1.61004e-24	1	1.84098e-24	41	211				
LGI4	163175	broad.mit.edu	37	19	35616231	35616231	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35616231G>T	ENST00000310123.3	-	9	1999	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	494					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAGGCCCCAGCTCCTGCAGT	0.652																																						ENST00000310123.3																			0				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1480-1482)Ctg>Atg		leucine-rich repeat LGI family, member 4							27.0	32.0	30.0					19																	35616231		2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35616231G>T	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1480C>A	19.37:g.35616231G>T	ENSP00000312273:p.Leu494Met					LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	p.L494M	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		9	1999	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		494					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1480C>A	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908672	0.52439	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.69175	-0.38	5.15	2.97	0.34412	.	0.000000	0.51477	D	0.000092	T	0.75532	0.3862	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.74509	-0.3642	10	0.87932	D	0	.	7.5644	0.27870	0.2695:0.0:0.7305:0.0	.	494	Q8N135	LGI4_HUMAN	M	494;495	ENSP00000312273:L494M	ENSP00000312273:L494M	L	-	1	2	LGI4	40308071	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.295000	0.43576	0.552000	0.29026	-0.350000	0.07774	CTG		0.652	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			56	194	1	0	2.23044e-30	1	2.6157e-30	56	194				
KCNF1	3754	broad.mit.edu	37	2	11052960	11052960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11052960G>T	ENST00000295082.1	+	1	898	c.408G>T	c.(406-408)gaG>gaT	p.E136D		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	136					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGAAGCGCGAGGAGCTGGAGG	0.642																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(406-408)gaG>gaT		potassium voltage-gated channel, subfamily F, member 1							44.0	50.0	48.0					2																	11052960		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052960G>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.408G>T	2.37:g.11052960G>T	ENSP00000295082:p.Glu136Asp						p.E136D	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	898	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		136					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.408G>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282346	0.23392	.	.	ENSG00000162975	ENST00000295082	D	0.94457	-3.43	5.19	4.06	0.47325	BTB/POZ fold (2);	1.515580	0.04082	N	0.309783	D	0.90497	0.7023	N	0.20685	0.6	0.44492	D	0.99743	B	0.09022	0.002	B	0.06405	0.002	T	0.70234	-0.4928	10	0.34782	T	0.22	.	12.4587	0.55718	0.1157:0.0:0.8843:0.0	.	136	Q9H3M0	KCNF1_HUMAN	D	136	ENSP00000295082:E136D	ENSP00000295082:E136D	E	+	3	2	KCNF1	10970411	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.634000	0.24614	2.564000	0.86499	0.563000	0.77884	GAG		0.642	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		50	400	1	0	3.10996e-30	1	3.64561e-30	50	400				
ZNF317	57693	broad.mit.edu	37	19	9271217	9271217	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9271217T>C	ENST00000247956.6	+	7	1201	c.896T>C	c.(895-897)gTt>gCt	p.V299A	ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATGCGAGTTCACACTGGC	0.567																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(895-897)gTt>gCt		zinc finger protein 317							70.0	68.0	69.0					19																	9271217		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271217T>C	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.896T>C	19.37:g.9271217T>C	ENSP00000247956:p.Val299Ala					ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	p.V299A	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1201	+			299					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.896T>C	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763244	0.31228	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.09817	2.94;2.94	3.61	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.417750	0.17679	N	0.165690	T	0.06735	0.0172	N	0.17564	0.495	0.09310	N	1	B;B	0.25772	0.11;0.134	B;B	0.29077	0.059;0.098	T	0.31998	-0.9923	10	0.87932	D	0	-17.6165	6.4498	0.21898	0.0:0.2528:0.0:0.7472	.	267;299	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	A	299;267	ENSP00000247956:V299A;ENSP00000353554:V267A	ENSP00000247956:V299A	V	+	2	0	ZNF317	9132217	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	-0.182000	0.09726	0.218000	0.20820	0.482000	0.46254	GTT		0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		95	307	0	0	0	1	0	95	307				
ZIK1	284307	broad.mit.edu	37	19	58101631	58101631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58101631G>A	ENST00000597850.1	+	4	667	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACATGGACAGAGCCTCATAT	0.493																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(451-453)aGa>aAa		zinc finger protein interacting with K protein 1							98.0	83.0	88.0					19																	58101631		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101631G>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.452G>A	19.37:g.58101631G>A	ENSP00000472867:p.Arg151Lys					ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K|ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K|ZIK1_ENST00000307468.4_3'UTR	p.R151K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	667	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	151					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.452G>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	6.463	0.453628	0.12283	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05081	3.5	2.84	-3.46	0.04767	.	.	.	.	.	T	0.03651	0.0104	L	0.28649	0.875	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.48581	-0.9023	9	0.06891	T	0.86	.	7.6484	0.28334	0.6221:0.0:0.3779:0.0	.	138;151	F5H435;Q3SY52	.;ZIK1_HUMAN	K	138;132;151	ENSP00000438487:R138K	ENSP00000303820:R151K	R	+	2	0	ZIK1	62793443	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.568000	0.05909	-0.689000	0.05149	-0.391000	0.06502	AGA		0.493	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		58	280	0	0	0	1	0	58	280				
SAYSD1	55776	broad.mit.edu	37	6	39073241	39073241	+	Silent	SNP	G	G	A	rs141609699	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39073241G>A	ENST00000229903.4	-	2	618	c.519C>T	c.(517-519)cgC>cgT	p.R173R	SAYSD1_ENST00000373249.1_Silent_p.R106R	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	173						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)											ACTGTAACTCGCGCTCCAACT	0.547													G|||	4	0.000798722	0.003	0.0	5008	,	,		19512	0.0		0.0	False		,,,				2504	0.0					ENST00000229903.4																			0											c.(517-519)cgC>cgT		SAYSVFN motif domain containing 1		G		3,4403	6.2+/-15.9	0,3,2200	105.0	108.0	107.0		519	0.9	1.0	6	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	C6orf64	NM_018322.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		173/184	39073241	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55776					integral to membrane		g.chr6:39073241G>A	BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 64"""	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.519C>T	6.37:g.39073241G>A						SAYSD1_ENST00000373249.1_Silent_p.R106R	p.R173R	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN			2	618	-			173					Q9H0D8	Silent	SNP	ENST00000229903.4	37	c.519C>T	CCDS4840.1																																																																																				0.547	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040448.1	NM_018322		105	509	0	0	0	1	0	105	509				
RBM25	58517	broad.mit.edu	37	14	73570180	73570180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73570180G>A	ENST00000261973.7	+	10	1433	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	383	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GATCGCAGTCGATCAAGGTAA	0.463																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1147-1149)cGa>cAa		RNA binding motif protein 25							65.0	57.0	60.0					14																	73570180		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73570180G>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1148G>A	14.37:g.73570180G>A	ENSP00000261973:p.Arg383Gln					RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	p.R383Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	10	1433	+			383			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1148G>A	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123003	0.56613	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.58940	0.3;0.3	5.75	5.75	0.90469	.	0.055040	0.64402	D	0.000002	T	0.60818	0.2298	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	P	0.61201	0.885	T	0.58335	-0.7654	10	0.32370	T	0.25	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	383	P49756	RBM25_HUMAN	Q	383	ENSP00000261973:R383Q;ENSP00000431150:R383Q	ENSP00000261973:R383Q	R	+	2	0	RBM25	72639933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGA		0.463	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		28	132	0	0	0	1	0	28	132				
COL8A2	1296	broad.mit.edu	37	1	36563619	36563619	+	Missense_Mutation	SNP	C	C	T	rs574001499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563619C>T	ENST00000397799.1	-	4	1887	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	COL8A2_ENST00000481785.1_Missense_Mutation_p.V490M|COL8A2_ENST00000303143.4_Missense_Mutation_p.V555M			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	555	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCCCAGCACGGCACCCTCC	0.721																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1663-1665)Gtg>Atg		collagen, type VIII, alpha 2							13.0	14.0	13.0					1																	36563619		2194	4282	6476	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563619C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1663G>A	1.37:g.36563619C>T	ENSP00000380901:p.Val555Met					COL8A2_ENST00000481785.1_Missense_Mutation_p.V490M|COL8A2_ENST00000303143.4_Missense_Mutation_p.V555M	p.V555M			P25067	CO8A2_HUMAN			4	1887	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	555			Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1663G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580132	0.46006	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91295	-2.82;-2.82;-2.82	3.99	3.99	0.46301	.	0.214888	0.38778	N	0.001572	D	0.90191	0.6934	L	0.47716	1.5	0.41621	D	0.988961	D	0.71674	0.998	P	0.53809	0.735	D	0.89884	0.4032	10	0.46703	T	0.11	.	11.8389	0.52342	0.1751:0.8249:0.0:0.0	.	555	P25067	CO8A2_HUMAN	M	555;555;490;279	ENSP00000305913:V555M;ENSP00000380901:V555M;ENSP00000436433:V490M	ENSP00000305913:V555M	V	-	1	0	COL8A2	36336206	0.980000	0.34600	0.931000	0.37212	0.980000	0.70556	2.197000	0.42696	2.223000	0.72356	0.462000	0.41574	GTG		0.721	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		10	60	0	0	0	1	0	10	60				
THSD7A	221981	broad.mit.edu	37	7	11446998	11446998	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11446998G>T	ENST00000423059.4	-	20	4102	c.3851C>A	c.(3850-3852)cCt>cAt	p.P1284H	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1284	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGTTCACAGGGCATTCCAC	0.458										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3850-3852)cCt>cAt		thrombospondin, type I, domain containing 7A							75.0	75.0	75.0					7																	11446998		1964	4159	6123	SO:0001583	missense	221981					integral to membrane		g.chr7:11446998G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3851C>A	7.37:g.11446998G>T	ENSP00000406482:p.Pro1284His	HNSCC(18;0.044)				AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.P1284H	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	20	4102	-			1284			TSP type-1 12.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3851C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869879	0.91587	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.62788	-0.0	5.37	5.37	0.77165	.	0.048208	0.85682	D	0.000000	T	0.76421	0.3985	M	0.71581	2.175	0.80722	D	1	D	0.53619	0.961	P	0.57548	0.823	T	0.78804	-0.2060	10	0.87932	D	0	.	19.518	0.95171	0.0:0.0:1.0:0.0	.	1284	Q9UPZ6	THS7A_HUMAN	H	1284	ENSP00000406482:P1284H	ENSP00000262042:P1284H	P	-	2	0	THSD7A	11413523	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.680000	0.98651	2.679000	0.91253	0.585000	0.79938	CCT		0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		10	125	1	0	6.53275e-17	1	7.19348e-17	10	125				
MPZ	4359	broad.mit.edu	37	1	161277072	161277072	+	Silent	SNP	G	G	A	rs545129173		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161277072G>A	ENST00000533357.1	-	2	276	c.210C>T	c.(208-210)ccC>ccT	p.P70P	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Silent_p.P80P|MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000336559.4_Silent_p.P70P	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	70	Ig-like V-type.				cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCCCTTCGGGCTGGTAGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18267	0.0		0.0	False		,,,				2504	0.001					ENST00000533357.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(208-210)ccC>ccT		myelin protein zero							51.0	45.0	47.0					1																	161277072		2203	4300	6503	SO:0001819	synonymous_variant	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161277072G>A	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.210C>T	1.37:g.161277072G>A						MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Silent_p.P70P|MPZ_ENST00000360451.6_Silent_p.P80P	p.P70P	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	276	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	70			Ig-like V-type.		Q16072|Q5VTH4|Q92677|Q9BR67	Silent	SNP	ENST00000533357.1	37	c.210C>T	CCDS1229.2																																																																																				0.552	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		34	181	0	0	0	1	0	34	181				
MLLT1	4298	broad.mit.edu	37	19	6213122	6213122	+	Silent	SNP	G	G	A	rs143086360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213122G>A	ENST00000252674.7	-	12	1774	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'Flank	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	537					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGAAGAGGTCGAAGTCGAAGG	0.637			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1609-1611)ttC>ttT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1				3,4403	6.2+/-15.9	0,3,2200	172.0	155.0	161.0		1611	-5.8	0.9	19	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MLLT1	NM_005934.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		537/560	6213122	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213122G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1611C>T	19.37:g.6213122G>A							p.F537F	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			12	1774	-			537					Q14768	Silent	SNP	ENST00000252674.7	37	c.1611C>T	CCDS12160.1																																																																																				0.637	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		105	563	0	0	0	1	0	105	563				
KIF13A	63971	broad.mit.edu	37	6	17788054	17788054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17788054C>T	ENST00000259711.6	-	27	3419	c.3314G>A	c.(3313-3315)cGa>cAa	p.R1105Q	KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1092Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1105					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTATTCTCGTCGTTTAATGAG	0.393																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3274-3276)cGa>cAa		kinesin family member 13A							308.0	283.0	291.0					6																	17788054		1891	4124	6015	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17788054C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3314G>A	6.37:g.17788054C>T	ENSP00000259711:p.Arg1105Gln					KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1105Q	p.R1092Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		26	3274	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1105					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3275G>A	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.779455|5.779455	0.96929|0.96929	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.79554	.|-1.27;0.99;-1.28;-1.25;-1.27;-1.25	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89455|0.89455	0.6720|0.6720	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.987;0.998;0.999;0.998	D|D	0.89481|0.89481	0.3750|0.3750	5|10	.|0.87932	.|D	.|0	.|.	20.2723|20.2723	0.98479|0.98479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1092;1105;1105;1092	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	N|Q	499|1092;109;1105;1105;1092;1105;103	.|ENSP00000368091:R1092Q;ENSP00000425616:R109Q;ENSP00000259711:R1105Q;ENSP00000368103:R1105Q;ENSP00000368120:R1092Q;ENSP00000368093:R1105Q	.|ENSP00000259711:R1105Q	D|R	-|-	1|2	0|0	KIF13A|KIF13A	17896033|17896033	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.966000|0.966000	0.64601|0.64601	7.776000|7.776000	0.85560|0.85560	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.393	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			104	509	0	0	0	1	0	104	509				
RARRES3	5920	broad.mit.edu	37	11	63307081	63307081	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307081C>A	ENST00000255688.3	+	2	151	c.103C>A	c.(103-105)Cat>Aat	p.H35N	RARRES3_ENST00000439013.2_Missense_Mutation_p.H35N|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	35					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CTACGTGATCCATCTGGCTCC	0.473																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(103-105)Cat>Aat		retinoic acid receptor responder (tazarotene induced) 3							105.0	109.0	108.0					11																	63307081		2194	4297	6491	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63307081C>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.103C>A	11.37:g.63307081C>A	ENSP00000255688:p.His35Asn					RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000255688.3_Missense_Mutation_p.H35N|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N	p.H35N			Q9UL19	TIG3_HUMAN			2	156	+			35					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.103C>A	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084429	0.55861	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.43294	0.95;0.95;0.95	4.36	4.36	0.52297	.	0.161271	0.39341	N	0.001381	T	0.60843	0.2300	M	0.74546	2.27	0.27514	N	0.951613	D	0.76494	0.999	D	0.97110	1.0	T	0.54794	-0.8240	10	0.56958	D	0.05	.	9.9419	0.41585	0.2027:0.7973:0.0:0.0	.	35	Q9UL19	TIG3_HUMAN	N	35	ENSP00000402943:H35N;ENSP00000255688:H35N;ENSP00000346431:H35N	ENSP00000255688:H35N	H	+	1	0	RARRES3	63063657	0.997000	0.39634	0.954000	0.39281	0.251000	0.25915	0.767000	0.26575	2.438000	0.82558	0.563000	0.77884	CAT		0.473	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			85	320	1	0	1.52589e-26	1	1.75947e-26	85	320				
TRIM46	80128	broad.mit.edu	37	1	155154489	155154489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155154489G>A	ENST00000334634.4	+	9	1750	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	TRIM46_ENST00000368382.1_Missense_Mutation_p.D561N|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	584	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTCCTGGGCGACGTGGCTGT	0.667																																						ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1681-1683)Gac>Aac		tripartite motif containing 46							23.0	23.0	23.0					1																	155154489		2203	4299	6502	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155154489G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1750G>A	1.37:g.155154489G>A	ENSP00000334657:p.Asp584Asn					TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.D584N	p.D561N	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1818	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		584			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1681G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875559	0.72180	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.61040	0.14;2.54;0.14;0.14	4.06	4.06	0.47325	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.072502	0.53938	D	0.000049	T	0.60353	0.2262	L	0.53249	1.67	0.49483	D	0.999795	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55528	-0.8127	10	0.20519	T	0.43	.	14.1186	0.65172	0.0:0.0:1.0:0.0	.	584;584	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	N	542;458;584;561;584	ENSP00000440254:D458N;ENSP00000357367:D584N;ENSP00000357366:D561N;ENSP00000334657:D584N	ENSP00000334657:D584N	D	+	1	0	TRIM46	153421113	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.851000	0.92205	2.285000	0.76669	0.561000	0.74099	GAC		0.667	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		13	191	0	0	0	1	0	13	191				
EYA4	2070	broad.mit.edu	37	6	133844298	133844298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133844298A>G	ENST00000367895.5	+	18	2185	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C	EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C|EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C|EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	574					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAGAATATTTACAGTGCAACT	0.388																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1720-1722)tAc>tGc		eyes absent homolog 4 (Drosophila)							117.0	117.0	117.0					6																	133844298		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133844298A>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1721A>G	6.37:g.133844298A>G	ENSP00000356870:p.Tyr574Cys					EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C|EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C	p.Y574C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	18	2185	+	Colorectal(23;0.221)		574					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1721A>G	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390054	0.82902	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97553	-4.43;-4.19;-4.31;-4.43;-4.27;-4.43;-4.43;-4.43	6.16	6.16	0.99307	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.87547	2.89	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;1.0;1.0;1.0	D	0.99741	1.1015	10	0.87932	D	0	-11.9122	16.8061	0.85666	1.0:0.0:0.0:0.0	.	580;526;520;551;574;574	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	C	520;526;574;574;551;580;551;574	ENSP00000395916:Y520C;ENSP00000388670:Y526C;ENSP00000356870:Y574C;ENSP00000347294:Y574C;ENSP00000347434:Y551C;ENSP00000432770:Y580C;ENSP00000433219:Y551C;ENSP00000404558:Y574C	ENSP00000347294:Y574C	Y	+	2	0	EYA4	133885991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	TAC		0.388	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		104	462	0	0	0	1	0	104	462				
MET	4233	broad.mit.edu	37	7	116381004	116381004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116381004C>T	ENST00000318493.6	+	5	1813	c.1626C>T	c.(1624-1626)caC>caT	p.H542H	MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Silent_p.H542H|MET_ENST00000436117.2_Silent_p.H542H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCTGGTGCCACGACAAATGTG	0.522			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1624-1626)caC>caT		met proto-oncogene							104.0	109.0	107.0					7																	116381004		1965	4142	6107	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116381004C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1626C>T	7.37:g.116381004C>T						MET_ENST00000436117.2_Silent_p.H542H|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Silent_p.H542H	p.H542H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		5	1826	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	542					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.1626C>T	CCDS47689.1																																																																																				0.522	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			114	473	0	0	0	1	0	114	473				
IKZF2	22807	broad.mit.edu	37	2	213872294	213872294	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213872294G>T	ENST00000434687.1	-	9	1680	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	IKZF2_ENST00000421754.2_Silent_p.I383I|IKZF2_ENST00000457361.1_Silent_p.I457I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000374327.4_Silent_p.I312I|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	457					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AGACCTTGTAGATGTCCTTCA	0.473																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1369-1371)atC>atA		IKAROS family zinc finger 2 (Helios)							177.0	174.0	175.0					2																	213872294		2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872294G>T	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1371C>A	2.37:g.213872294G>T						IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000434687.1_Silent_p.I457I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000374327.4_Silent_p.I312I|IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000421754.2_Silent_p.I383I	p.I457I	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1539	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	457					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.1371C>A	CCDS2395.1																																																																																				0.473	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		230	670	1	0	1.32126e-99	1	1.6992e-99	230	670				
CCDC7	79741	broad.mit.edu	37	10	33135307	33135307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33135307C>T	ENST00000375030.2	+	18	1832	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I|C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I			Q9H943	CJ068_HUMAN		446										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCTATAGAGACTGATAAAGAA	0.289																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1213-1215)aCt>aTt		chromosome 10 open reading frame 68							37.0	41.0	40.0					10																	33135307		2195	4270	6465	SO:0001583	missense	79741							g.chr10:33135307C>T																												ENST00000375030.2:c.1214C>T	10.37:g.33135307C>T	ENSP00000364170:p.Thr405Ile					C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I|C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I	p.T405I			Q9H943	CJ068_HUMAN			18	1832	+			446					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.1214C>T		.	.	.	.	.	.	.	.	.	.	.	8.117	0.780115	0.16120	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28895	1.61;1.7;1.59;1.59	2.21	1.27	0.21489	.	.	.	.	.	T	0.44993	0.1320	M	0.62723	1.935	0.09310	N	1	B;B;B;D	0.65815	0.042;0.015;0.137;0.995	B;B;B;D	0.66351	0.019;0.019;0.031;0.943	T	0.17592	-1.0364	9	0.56958	D	0.05	.	6.0096	0.19567	0.307:0.693:0.0:0.0	.	427;446;450;405	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	I	446;405;450;510;422	ENSP00000303710:T446I;ENSP00000364170:T405I;ENSP00000364168:T450I;ENSP00000364165:T510I	ENSP00000303710:T446I	T	+	2	0	C10orf68	33175313	0.000000	0.05858	0.060000	0.19600	0.272000	0.26649	-0.030000	0.12308	0.466000	0.27193	0.453000	0.30009	ACT		0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			30	177	0	0	0	1	0	30	177				
GSDMD	79792	broad.mit.edu	37	8	144643581	144643581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144643581C>T	ENST00000526406.1	+	9	1607	c.724C>T	c.(724-726)Cca>Tca	p.P242S	GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S|GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	242					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACCTTCCAGCCACCCGCGAC	0.617																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(724-726)Cca>Tca		gasdermin D							42.0	42.0	42.0					8																	144643581		2200	4295	6495	SO:0001583	missense	79792							g.chr8:144643581C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.724C>T	8.37:g.144643581C>T	ENSP00000433209:p.Pro242Ser					GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S|GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S	p.P242S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			9	1607	+			242					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.724C>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022276	0.07634	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580;ENST00000534018	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.64	-0.515	0.11954	.	2.577270	0.01232	N	0.008370	T	0.15003	0.0362	L	0.41573	1.285	0.09310	N	1	B;B;B	0.25312	0.057;0.057;0.123	B;B;B	0.24974	0.056;0.056;0.057	T	0.09818	-1.0657	10	0.09084	T	0.74	-1.1727	2.3156	0.04198	0.1936:0.3621:0.3335:0.1108	.	242;242;290	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	S	242;290;242;258	ENSP00000433209:P242S;ENSP00000433958:P290S;ENSP00000262580:P242S;ENSP00000436684:P258S	ENSP00000262580:P242S	P	+	1	0	GSDMD	144714724	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-0.230000	0.09083	-0.115000	0.11915	0.637000	0.83480	CCA		0.617	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		21	60	0	0	0	1	0	21	60				
ABCB5	340273	broad.mit.edu	37	7	20682938	20682938	+	Missense_Mutation	SNP	C	C	A	rs372132207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682938C>A	ENST00000404938.2	+	6	1098	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	149	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCAGTTTTGGCACAGGACATC	0.408																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(445-447)gCa>gAa		ATP-binding cassette, sub-family B (MDR/TAP), member 5							92.0	84.0	86.0					7																	20682938		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20682938C>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.446C>A	7.37:g.20682938C>A	ENSP00000384881:p.Ala149Glu						p.A149E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			6	1098	+			333			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.446C>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441668	0.25900	.	.	ENSG00000004846	ENST00000404938	D	0.88509	-2.39	3.75	3.75	0.43078	.	.	.	.	.	D	0.85217	0.5646	L	0.43152	1.355	0.80722	D	1	P	0.36171	0.541	B	0.36608	0.229	D	0.87183	0.2229	9	0.87932	D	0	.	13.867	0.63594	0.0:1.0:0.0:0.0	.	149	A7BKA4	.	E	149	ENSP00000384881:A149E	ENSP00000384881:A149E	A	+	2	0	ABCB5	20649463	0.898000	0.30612	0.873000	0.34254	0.154000	0.21943	1.722000	0.38042	2.398000	0.81561	0.563000	0.77884	GCA		0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		32	191	1	0	1.30988e-24	1	1.49899e-24	32	191				
PCDHGA2	56113	broad.mit.edu	37	5	140720625	140720625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720625C>T	ENST00000394576.2	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2086-2088)gCg>gTg									98.0	105.0	102.0					5																	140720625		2203	4296	6499	SO:0001583	missense	0							g.chr5:140720625C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2087C>T	5.37:g.140720625C>T	ENSP00000378077:p.Ala696Val					PCDHGA1_ENST00000517417.1_Intron	p.A696V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2087	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2087C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.101865	0.76983	.	.	ENSG00000081853	ENST00000394576	T	0.25250	1.81	5.05	5.05	0.67936	.	0.000000	0.41097	U	0.000960	T	0.64148	0.2572	H	0.96943	3.91	0.35538	D	0.802815	D;D	0.89917	0.997;1.0	D;D	0.65140	0.927;0.932	T	0.82424	-0.0464	10	0.87932	D	0	.	16.6115	0.84884	0.0:1.0:0.0:0.0	.	696;696	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	696	ENSP00000378077:A696V	ENSP00000378077:A696V	A	+	2	0	PCDHGA2	140700809	0.998000	0.40836	0.952000	0.39060	0.008000	0.06430	4.415000	0.59809	2.532000	0.85374	0.485000	0.47835	GCG		0.672	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		30	1090	0	0	0	1	0	30	1090				
EP400	57634	broad.mit.edu	37	12	132516653	132516653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132516653G>A	ENST00000333577.4	+	31	6127	c.6018G>A	c.(6016-6018)tgG>tgA	p.W2006*	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*|EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*			Q96L91	EP400_HUMAN	E1A binding protein p400	2006	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAGGAGTGGTGCGATAGGA	0.507																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(6016-6018)tgG>tgA		E1A binding protein p400							150.0	147.0	148.0					12																	132516653		2203	4300	6503	SO:0001587	stop_gained	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132516653G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6018G>A	12.37:g.132516653G>A	ENSP00000333602:p.Trp2006*					EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*|EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*	p.W2006*			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	31	6127	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2006			Helicase C-terminal.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37	c.6018G>A		.	.	.	.	.	.	.	.	.	.	G	46	12.503708	0.99673	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	.	.	.	X	2006;1970;1969;1933;1889;1970	.	ENSP00000330620:W1889X	W	+	3	0	EP400	131082606	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.445000	0.66594	2.793000	0.96121	0.563000	0.77884	TGG		0.507	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		20	628	0	0	0	1	0	20	628				
KIF27	55582	broad.mit.edu	37	9	86518816	86518816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518816C>T	ENST00000297814.2	-	4	760	c.617G>A	c.(616-618)aGa>aAa	p.R206K	KIF27_ENST00000413982.1_Missense_Mutation_p.R206K|KIF27_ENST00000334204.2_Missense_Mutation_p.R206K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	206	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGCATGTGATCTGCTGGAGTG	0.438																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(616-618)aGa>aAa		kinesin family member 27							208.0	203.0	205.0					9																	86518816		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518816C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.617G>A	9.37:g.86518816C>T	ENSP00000297814:p.Arg206Lys					KIF27_ENST00000334204.2_Missense_Mutation_p.R206K|KIF27_ENST00000413982.1_Missense_Mutation_p.R206K	p.R206K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	760	-			206			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.617G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796143	0.90453	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	D;D;D	0.86432	-2.12;-2.12;-2.12	5.57	4.62	0.57501	Kinesin, motor domain (5);	0.000000	0.56097	D	0.000024	D	0.96870	0.8978	H	0.99887	4.895	0.45899	D	0.998744	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.962;0.982;0.98	D	0.98374	1.0555	10	0.87932	D	0	.	15.9098	0.79463	0.0:0.8647:0.1353:0.0	.	206;206;206	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	206	ENSP00000297814:R206K;ENSP00000401688:R206K;ENSP00000333928:R206K	ENSP00000297814:R206K	R	-	2	0	KIF27	85708636	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.041000	0.70988	2.610000	0.88304	0.591000	0.81541	AGA		0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		135	900	0	0	0	1	0	135	900				
AP4B1	10717	broad.mit.edu	37	1	114442734	114442734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442734C>A	ENST00000369569.1	-	5	1186	c.906G>T	c.(904-906)caG>caT	p.Q302H	AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H|AP4B1_ENST00000462591.1_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	302					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGCAAGATCTGGCGTACAT	0.473																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(904-906)caG>caT		adaptor-related protein complex 4, beta 1 subunit							86.0	92.0	90.0					1																	114442734		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442734C>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.906G>T	1.37:g.114442734C>A	ENSP00000358582:p.Gln302His					AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H|AP4B1-AS1_ENST00000419536.1_RNA	p.Q302H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1186	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	302					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.906G>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647931	0.67358	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;2.62;1.76;1.76	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.175708	0.50627	D	0.000103	T	0.29355	0.0731	L	0.46157	1.445	0.51233	D	0.999914	D;P;P;B	0.57571	0.98;0.75;0.915;0.021	P;P;P;B	0.60236	0.871;0.637;0.549;0.071	T	0.01639	-1.1306	10	0.54805	T	0.06	.	13.0983	0.59206	0.0:0.9224:0.0:0.0776	.	209;134;302;203	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	H	134;302;302;209;227;134	ENSP00000358580:Q134H;ENSP00000358582:Q302H;ENSP00000256658:Q302H;ENSP00000358579:Q209H;ENSP00000358577:Q227H;ENSP00000393622:Q134H	ENSP00000256658:Q302H	Q	-	3	2	AP4B1	114244257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.381000	0.52455	2.487000	0.83934	0.462000	0.41574	CAG		0.473	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		12	550	1	0	0.00010058	1	0.000102273	12	550				
TBC1D9	23158	broad.mit.edu	37	4	141543376	141543376	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543376G>A	ENST00000442267.2	-	21	3848	c.3774C>T	c.(3772-3774)gaC>gaT	p.D1258D		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1258							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGATTTCATAGTCACTGGCCG	0.552																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3772-3774)gaC>gaT		TBC1 domain family, member 9 (with GRAM domain)							67.0	67.0	67.0					4																	141543376		1881	4119	6000	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543376G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3774C>T	4.37:g.141543376G>A							p.D1258D	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3848	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1258					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.3774C>T	CCDS47136.1																																																																																				0.552	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		70	374	0	0	0	1	0	70	374				
ZNF25	219749	broad.mit.edu	37	10	38241882	38241882	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38241882T>G	ENST00000302609.7	-	6	756	c.544A>C	c.(544-546)Ata>Cta	p.I182L	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGGTAAAATATTTTCTTACAT	0.353																																						ENST00000302609.7																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(544-546)Ata>Cta		zinc finger protein 25							147.0	152.0	151.0					10																	38241882		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241882T>G	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.544A>C	10.37:g.38241882T>G	ENSP00000302222:p.Ile182Leu					ZNF25_ENST00000374633.1_5'UTR	p.I182L	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN			6	756	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	182					A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.544A>C	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736628	0.30774	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.14391	2.51	4.84	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.537430	0.15831	N	0.242506	T	0.05364	0.0142	N	0.02225	-0.63	0.09310	N	0.999999	B	0.17465	0.022	B	0.14023	0.01	T	0.28299	-1.0048	10	0.87932	D	0	-8.0E-4	5.7583	0.18186	0.1691:0.0:0.1763:0.6547	.	182	P17030	ZNF25_HUMAN	L	182;146	ENSP00000302222:I182L	ENSP00000302222:I182L	I	-	1	0	ZNF25	38281888	0.001000	0.12720	0.866000	0.34008	0.960000	0.62799	-0.177000	0.09796	0.960000	0.38005	0.524000	0.50904	ATA		0.353	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		11	730	0	0	0	1	0	11	730				
PKHD1L1	93035	broad.mit.edu	37	8	110442244	110442244	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110442244C>A	ENST00000378402.5	+	27	3311	c.3207C>A	c.(3205-3207)gtC>gtA	p.V1069V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1069	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCCCTAGTCTTGGCGATAA	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3205-3207)gtC>gtA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							124.0	110.0	115.0					8																	110442244		1871	4112	5983	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110442244C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3207C>A	8.37:g.110442244C>A		HNSCC(38;0.096)					p.V1069V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		27	3311	+			1069			IPT/TIG 4.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.3207C>A	CCDS47911.1																																																																																				0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		18	92	1	0	3.99206e-14	1	4.32713e-14	18	92				
NPC1L1	29881	broad.mit.edu	37	7	44561836	44561836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561836C>T	ENST00000289547.4	-	11	2698	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	NPC1L1_ENST00000546276.1_Intron|NPC1L1_ENST00000381160.3_Silent_p.S881S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	881					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAGCAGGTACGAGTCCTAGG	0.542																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2641-2643)tcG>tcA		NPC1-like 1	Ezetimibe(DB00973)						47.0	45.0	46.0					7																	44561836		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561836C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2643G>A	7.37:g.44561836C>T						NPC1L1_ENST00000381160.3_Silent_p.S881S|NPC1L1_ENST00000546276.1_Intron	p.S881S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			11	2698	-			881					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.2643G>A	CCDS5491.1																																																																																				0.542	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		25	99	0	0	0	1	0	25	99				
ZNF730	100129543	broad.mit.edu	37	19	23318771	23318771	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23318771A>G	ENST00000597761.2	+	3	351	c.152A>G	c.(151-153)gAc>gGc	p.D51G	ZNF730_ENST00000593635.1_Missense_Mutation_p.D19G	NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCAAAGCCAGACCTGATCACC	0.388																																						ENST00000597761.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						c.(151-153)gAc>gGc		zinc finger protein 730																																				SO:0001583	missense	100129543							g.chr19:23318771A>G	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.152A>G	19.37:g.23318771A>G	ENSP00000472959:p.Asp51Gly					ZNF730_ENST00000593635.1_Missense_Mutation_p.D19G	p.D51G	NM_001277403.1	NP_001264332.1					3	351	+									Missense_Mutation	SNP	ENST00000597761.2	37	c.152A>G	CCDS59371.1	.	.	.	.	.	.	.	.	.	.	A	9.997	1.232395	0.22626	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	T	0.52370	0.1730	M	0.73430	2.235	0.09310	N	1	.	.	.	.	.	.	T	0.48790	-0.9004	5	0.54805	T	0.06	.	.	.	.	.	.	.	.	G	51	.	ENSP00000329365:D51G	D	+	2	0	ZNF730	23110611	0.001000	0.12720	0.016000	0.15963	0.021000	0.10359	-0.072000	0.11486	0.257000	0.21650	0.254000	0.18369	GAC		0.388	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		82	404	0	0	0	1	0	82	404				
E2F3	1871	broad.mit.edu	37	6	20402509	20402509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20402509G>A	ENST00000346618.3	+	1	112	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	16					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCTGGTGACCGCCGGGGGTGG	0.607																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(46-48)Gcc>Acc		E2F transcription factor 3							12.0	19.0	17.0					6																	20402509		2139	4188	6327	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402509G>A	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.46G>A	6.37:g.20402509G>A	ENSP00000262904:p.Ala16Thr						p.A16T	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		1	112	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		16					Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.46G>A	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005005	0.74932	.	.	ENSG00000112242	ENST00000346618	T	0.09163	3.01	4.34	4.34	0.51931	.	0.113819	0.38058	N	0.001839	T	0.09202	0.0227	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.42965	-0.9420	10	0.56958	D	0.05	.	15.8346	0.78789	0.0:0.0:1.0:0.0	.	16	O00716	E2F3_HUMAN	T	16	ENSP00000262904:A16T	ENSP00000262904:A16T	A	+	1	0	E2F3	20510488	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.000000	0.12993	2.241000	0.73720	0.555000	0.69702	GCC		0.607	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			17	147	0	0	0	1	0	17	147				
EXOSC9	5393	broad.mit.edu	37	4	122732759	122732759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122732759G>A	ENST00000243498.5	+	8	868	c.760G>A	c.(760-762)Gct>Act	p.A254T	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_Missense_Mutation_p.A238T|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	254	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTAAAATCGCTGGTGTGAA	0.308																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(712-714)Gct>Act		exosome component 9							50.0	53.0	52.0					4																	122732759		2203	4297	6500	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122732759G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.760G>A	4.37:g.122732759G>A	ENSP00000243498:p.Ala254Thr					EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.A254T|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T	p.A238T			Q06265	EXOS9_HUMAN			7	928	+			254			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.712G>A	CCDS3722.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.463947|4.463947	0.84425|0.84425	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454|ENST00000511132	T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.046429|.	0.85682|.	D|.	0.000000|.	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	P;D;P|.	0.56746|.	0.939;0.977;0.955|.	B;B;P|.	0.45406|.	0.25;0.35;0.479|.	T|T	0.78723|0.78723	-0.2093|-0.2093	10|5	0.56958|.	D|.	0.05|.	-30.9715|-30.9715	11.4169|11.4169	0.49958|0.49958	0.1138:0.0:0.8862:0.0|0.1138:0.0:0.8862:0.0	.|.	238;254;254|.	D6RIY6;Q06265;Q06265-2|.	.;EXOS9_HUMAN;.|.	T|H	254;254;208;238|89	ENSP00000243498:A254T;ENSP00000368984:A254T;ENSP00000422205:A208T;ENSP00000425782:A238T|.	ENSP00000243498:A254T|.	A|R	+|+	1|2	0|0	EXOSC9|EXOSC9	122952209|122952209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.056000|6.056000	0.71111|0.71111	2.747000|2.747000	0.94245|0.94245	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.308	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		26	91	0	0	0	1	0	26	91				
USH2A	7399	broad.mit.edu	37	1	216040414	216040414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216040414C>A	ENST00000307340.3	-	44	9166	c.8780G>T	c.(8779-8781)aGa>aTa	p.R2927I	USH2A_ENST00000366943.2_Missense_Mutation_p.R2927I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2927	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGCTCCTCTCTCTGGAAG	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8779-8781)aGa>aTa		Usher syndrome 2A (autosomal recessive, mild)							163.0	131.0	142.0					1																	216040414		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216040414C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8780G>T	1.37:g.216040414C>A	ENSP00000305941:p.Arg2927Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R2927I	p.R2927I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	44	9166	-			2927			Fibronectin type-III 16.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8780G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267238	0.80469	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.72	4.71	0.59529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.153716	0.30043	N	0.010554	T	0.55465	0.1922	M	0.63428	1.95	0.44555	D	0.997512	D	0.54397	0.966	P	0.58331	0.837	T	0.53415	-0.8442	10	0.38643	T	0.18	.	6.9019	0.24286	0.0:0.8028:0.0:0.1972	.	2927	O75445	USH2A_HUMAN	I	2927	ENSP00000305941:R2927I;ENSP00000355910:R2927I	ENSP00000305941:R2927I	R	-	2	0	USH2A	214107037	0.990000	0.36364	1.000000	0.80357	0.871000	0.50021	0.982000	0.29539	2.711000	0.92665	0.557000	0.71058	AGA		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		68	255	1	0	1.17253e-29	1	1.37085e-29	68	255				
NPFFR2	10886	broad.mit.edu	37	4	72994599	72994599	+	Missense_Mutation	SNP	C	C	A	rs534362383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72994599C>A	ENST00000308744.6	+	2	695	c.597C>A	c.(595-597)ttC>ttA	p.F199L	NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	199					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTGGCATATTCTGCATGCCTA	0.368																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(595-597)ttC>ttA		neuropeptide FF receptor 2							133.0	127.0	129.0					4																	72994599		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72994599C>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.597C>A	4.37:g.72994599C>A	ENSP00000307822:p.Phe199Leu					NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L	p.F199L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		2	695	+			199					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.597C>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244796	0.59103	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.69175	-0.38;-0.38;-0.38	5.75	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.68366	0.2993	L	0.55743	1.74	0.58432	D	0.999999	P;P	0.50710	0.924;0.938	P;P	0.54372	0.635;0.75	T	0.65063	-0.6259	10	0.29301	T	0.29	.	9.2198	0.37370	0.0:0.7274:0.0:0.2726	.	100;199	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	199;100;97	ENSP00000307822:F199L;ENSP00000379321:F100L;ENSP00000351599:F97L	ENSP00000307822:F199L	F	+	3	2	NPFFR2	73213463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.605000	0.36815	1.362000	0.46000	0.650000	0.86243	TTC		0.368	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		118	520	1	0	2.48225e-49	1	3.07029e-49	118	520				
MYT1L	23040	broad.mit.edu	37	2	1893190	1893190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1893190C>T	ENST00000399161.2	-	16	3090	c.2343G>A	c.(2341-2343)agG>agA	p.R781R	MYT1L_ENST00000428368.2_Silent_p.R779R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	781					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCCCGCGGCCTCTGCTTGT	0.617																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2341-2343)agG>agA		myelin transcription factor 1-like							58.0	61.0	60.0					2																	1893190		2046	4187	6233	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893190C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2343G>A	2.37:g.1893190C>T						MYT1L_ENST00000428368.2_Silent_p.R779R	p.R781R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3090	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	781					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2343G>A																																																																																					0.617	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		66	310	0	0	0	1	0	66	310				
PLEKHG4B	153478	broad.mit.edu	37	5	140602	140602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140602G>T	ENST00000283426.6	+	1	230	c.180G>T	c.(178-180)aaG>aaT	p.K60N	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	60							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCTAGAGAAGGAGAGGCACA	0.662																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(178-180)aaG>aaT		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							16.0	20.0	19.0					5																	140602		2164	4273	6437	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:140602G>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.180G>T	5.37:g.140602G>T	ENSP00000283426:p.Lys60Asn						p.K60N	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	230	+			60						Missense_Mutation	SNP	ENST00000283426.6	37	c.180G>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	9.374	1.071343	0.20147	.	.	ENSG00000153404	ENST00000283426	T	0.25250	1.81	2.04	2.04	0.26737	.	.	.	.	.	T	0.09423	0.0232	N	0.19112	0.55	0.09310	N	1	P	0.41232	0.743	B	0.26094	0.066	T	0.13602	-1.0503	9	0.05525	T	0.97	.	7.3479	0.26674	0.0:0.0:1.0:0.0	.	60	Q96PX9	PKH4B_HUMAN	N	60	ENSP00000283426:K60N	ENSP00000283426:K60N	K	+	3	2	PLEKHG4B	193602	0.040000	0.19996	0.069000	0.20011	0.158000	0.22134	-0.328000	0.07945	0.613000	0.30089	0.298000	0.19748	AAG		0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		5	54	1	0	0.000602214	1	0.000609647	5	54				
CUX1	1523	broad.mit.edu	37	7	101747666	101747666	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101747666C>T	ENST00000292535.7	+	6	495	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000360264.3_Silent_p.L164L|CUX1_ENST00000556210.1_Silent_p.L153L|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000292538.4_Silent_p.L164L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	153					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAACAGACACTGAAGAACCA	0.398																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(490-492)Ctg>Ttg		cut-like homeobox 1							188.0	172.0	177.0					7																	101747666		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101747666C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.457C>T	7.37:g.101747666C>T						CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000556210.1_Silent_p.L153L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000292535.7_Silent_p.L153L|CUX1_ENST00000292538.4_Silent_p.L164L	p.L164L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			6	510	+			153					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.490C>T	CCDS5721.1																																																																																				0.398	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		111	534	0	0	0	1	0	111	534				
DROSHA	29102	broad.mit.edu	37	5	31468141	31468141	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31468141C>A	ENST00000511367.2	-	17	2515	c.2271G>T	c.(2269-2271)ctG>ctT	p.L757L	DROSHA_ENST00000344624.3_Silent_p.L757L|DROSHA_ENST00000442743.1_Silent_p.L720L|DROSHA_ENST00000513349.1_Silent_p.L720L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	757	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTTCACGATCCAGTTGATCGA	0.423																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2269-2271)ctG>ctT		drosha, ribonuclease type III							74.0	72.0	72.0					5																	31468141		1873	4106	5979	SO:0001819	synonymous_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31468141C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2271G>T	5.37:g.31468141C>A						DROSHA_ENST00000344624.3_Silent_p.L757L|DROSHA_ENST00000442743.1_Silent_p.L720L|DROSHA_ENST00000513349.1_Silent_p.L720L	p.L757L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			17	2515	-			757			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	c.2271G>T	CCDS47195.1																																																																																				0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		15	69	1	0	7.93312e-07	1	8.20014e-07	15	69				
ANO3	63982	broad.mit.edu	37	11	26465342	26465342	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26465342T>C	ENST00000256737.3	+	3	1124	c.272T>C	c.(271-273)gTg>gCg	p.V91A	ANO3_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A|ANO3_ENST00000537978.1_Missense_Mutation_p.V75A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	91					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AACGACTCTGTGCTGAGATGT	0.343																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(271-273)gTg>gCg		anoctamin 3							119.0	116.0	117.0					11																	26465342		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26465342T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.272T>C	11.37:g.26465342T>C	ENSP00000256737:p.Val91Ala					ANO3_ENST00000537978.1_Missense_Mutation_p.V75A|ANO3_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A	p.V91A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			3	1124	+			91					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.272T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	9.893	1.204778	0.22205	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.72	0.836	0.18891	.	1.510040	0.03809	N	0.265637	T	0.40015	0.1100	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	10	0.05436	T	0.98	.	1.4041	0.02276	0.1765:0.1035:0.183:0.5369	.	91	Q9BYT9	ANO3_HUMAN	A	75;75;91;91	ENSP00000440737:V75A;ENSP00000432576:V75A;ENSP00000256737:V91A;ENSP00000435275:V91A	ENSP00000256737:V91A	V	+	2	0	ANO3	26421918	0.209000	0.23505	0.021000	0.16686	0.037000	0.13140	0.943000	0.29030	0.024000	0.15214	0.482000	0.46254	GTG		0.343	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		16	75	0	0	0	1	0	16	75				
ZNF563	147837	broad.mit.edu	37	19	12429836	12429836	+	Nonsense_Mutation	SNP	G	G	A	rs555208908		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12429836G>A	ENST00000293725.5	-	4	1208	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTATGAGGTCGATCTCCAGTG	0.418																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1003-1005)Cga>Tga		zinc finger protein 563							170.0	161.0	164.0					19																	12429836		2203	4300	6503	SO:0001587	stop_gained	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429836G>A	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1003C>T	19.37:g.12429836G>A	ENSP00000293725:p.Arg335*						p.R335*	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1208	-			335					B2R9E7|Q8NAT7	Nonsense_Mutation	SNP	ENST00000293725.5	37	c.1003C>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	37	6.253265	0.97417	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	-2.0	0.07433	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7609	0.08603	0.0:0.1741:0.2295:0.5964	.	.	.	.	X	335	.	ENSP00000293725:R335X	R	-	1	2	ZNF563	12290836	0.000000	0.05858	0.004000	0.12327	0.944000	0.59088	-0.006000	0.12833	-0.855000	0.04125	0.313000	0.20887	CGA		0.418	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		154	743	0	0	0	1	0	154	743				
MEX3A	92312	broad.mit.edu	37	1	156046584	156046584	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156046584C>T	ENST00000532414.2	-	2	1343	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	448						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGCCCTGGAGCGGCTCTCCCG	0.746																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1342-1344)ccG>ccA		mex-3 RNA binding family member A							5.0	6.0	6.0					1																	156046584		1766	3934	5700	SO:0001819	synonymous_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046584C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1344G>A	1.37:g.156046584C>T							p.P448P	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1343	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		448						Silent	SNP	ENST00000532414.2	37	c.1344G>A	CCDS53377.1																																																																																				0.746	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		12	32	0	0	0	1	0	12	32				
GRM3	2913	broad.mit.edu	37	7	86468560	86468560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86468560C>T	ENST00000361669.2	+	4	2829	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	577					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACGCCTGGGCCATTGGCCCA	0.498																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1729-1731)gCc>gTc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						102.0	98.0	100.0					7																	86468560		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86468560C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1730C>T	7.37:g.86468560C>T	ENSP00000355316:p.Ala577Val					GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000439827.1_Intron	p.A577V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	2829	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		577					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1730C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736591	0.89482	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89123	-2.47;-2.41;-2.25	6.16	6.16	0.99307	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.89414	3.03	0.80722	D	1	D;D;D	0.69078	0.974;0.994;0.997	P;D;D	0.68943	0.677;0.961;0.96	D	0.95375	0.8468	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	169;449;577	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	V	577;169;449	ENSP00000355316:A577V;ENSP00000444064:A169V;ENSP00000441407:A449V	ENSP00000355316:A577V	A	+	2	0	GRM3	86306496	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCC		0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			75	317	0	0	0	1	0	75	317				
ARAP1	116985	broad.mit.edu	37	11	72408500	72408500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72408500C>A	ENST00000393609.3	-	21	3023	c.2821G>T	c.(2821-2823)Gac>Tac	p.D941Y	ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y|ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y|ARAP1_ENST00000359373.5_Missense_Mutation_p.D941Y|ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	941					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCATGAAGTCCAGCCGCCGC	0.637																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2821-2823)Gac>Tac		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							19.0	22.0	21.0					11																	72408500		2199	4290	6489	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408500C>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2821G>T	11.37:g.72408500C>A	ENSP00000377233:p.Asp941Tyr					ARAP1_ENST00000393609.3_Missense_Mutation_p.D941Y|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y|ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y|ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y	p.D941Y			Q96P48	ARAP1_HUMAN			21	3672	-			941					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2821G>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773975	0.90108	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.09	5.09	0.68999	Pleckstrin homology domain (1);	0.174867	0.47852	D	0.000210	T	0.60805	0.2297	M	0.72353	2.195	0.47374	D	0.999408	D;D;D;D;D	0.89917	1.0;0.997;0.998;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.938;0.972;0.989;0.997	T	0.65113	-0.6247	10	0.87932	D	0	.	17.0879	0.86616	0.0:1.0:0.0:0.0	.	696;635;941;941;701	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	Y	941;941;701;696;941;696;635;229;229	ENSP00000352332:D941Y;ENSP00000390461:D941Y;ENSP00000377230:D701Y;ENSP00000335506:D696Y;ENSP00000377233:D941Y;ENSP00000392264:D696Y;ENSP00000403127:D635Y;ENSP00000411452:D229Y;ENSP00000399118:D229Y	ENSP00000335506:D696Y	D	-	1	0	ARAP1	72086148	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.589000	0.67523	2.366000	0.80165	0.460000	0.39030	GAC		0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		6	166	1	0	0.0293803	1	0.0294705	6	166				
ZNF677	342926	broad.mit.edu	37	19	53741328	53741328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741328C>T	ENST00000598513.1	-	5	802	c.652G>A	c.(652-654)Gag>Aag	p.E218K	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.E218K	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATAGACTTCTCAACTGGATTA	0.338																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(652-654)Gag>Aag		zinc finger protein 677							55.0	56.0	56.0					19																	53741328		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741328C>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.652G>A	19.37:g.53741328C>T	ENSP00000469391:p.Glu218Lys					ZNF677_ENST00000598513.1_Missense_Mutation_p.E218K	p.E218K			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	817	-			218						Missense_Mutation	SNP	ENST00000598513.1	37	c.652G>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	5.907	0.351466	0.11182	.	.	ENSG00000197928	ENST00000333952	T	0.07567	3.18	2.16	-0.189	0.13260	.	0.527792	0.14232	N	0.332664	T	0.06917	0.0176	L	0.43923	1.385	0.09310	N	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.30327	-0.9982	10	0.62326	D	0.03	.	4.9484	0.14002	0.0:0.6387:0.219:0.1423	.	218	Q86XU0	ZN677_HUMAN	K	218	ENSP00000334394:E218K	ENSP00000334394:E218K	E	-	1	0	ZNF677	58433140	0.000000	0.05858	0.004000	0.12327	0.347000	0.29111	0.515000	0.22801	0.028000	0.15324	0.655000	0.94253	GAG		0.338	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		56	236	0	0	0	1	0	56	236				
PITPNM1	9600	broad.mit.edu	37	11	67269540	67269540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67269540G>A	ENST00000534749.1	-	4	621	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R145W|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R145W			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	145					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACTGCATCCCGCACGATGTCG	0.622																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(433-435)Cgg>Tgg		phosphatidylinositol transfer protein, membrane-associated 1							41.0	43.0	42.0					11																	67269540		2200	4294	6494	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269540G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.433C>T	11.37:g.67269540G>A	ENSP00000437286:p.Arg145Trp					PITPNM1_ENST00000436757.2_Missense_Mutation_p.R145W|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R145W	p.R145W	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			5	658	-			145					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.433C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818472	0.71028	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.21	3.28	0.37604	START-like domain (1);	0.296317	0.23682	N	0.045614	T	0.58352	0.2116	L	0.47190	1.495	0.38624	D	0.951207	D;D	0.89917	0.999;1.0	D;D	0.73708	0.949;0.981	T	0.63152	-0.6701	10	0.87932	D	0	-30.3704	10.5497	0.45081	0.0:0.0:0.6498:0.3501	.	145;145	O00562-2;O00562	.;PITM1_HUMAN	W	145	ENSP00000437286:R145W;ENSP00000398787:R145W;ENSP00000348772:R145W;ENSP00000434046:R145W;ENSP00000432977:R145W;ENSP00000434904:R145W	ENSP00000348772:R145W	R	-	1	2	PITPNM1	67026116	0.722000	0.28017	1.000000	0.80357	0.992000	0.81027	1.200000	0.32247	1.097000	0.41459	0.655000	0.94253	CGG		0.622	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		11	181	0	0	0	1	0	11	181				
LHFPL3	375612	broad.mit.edu	37	7	104377124	104377124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104377124G>A	ENST00000401970.2	+	2	528	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000424859.1_Missense_Mutation_p.A136T|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000535008.1_Intron|LHFPL3_ENST00000543266.1_Intron			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	150						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						TCTCCAAGCTGCCTGCCTTGT	0.398																																						ENST00000424859.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(406-408)Gcc>Acc		lipoma HMGIC fusion partner-like 3							45.0	42.0	43.0					7																	104377124		1882	4117	5999	SO:0001583	missense	375612					integral to membrane		g.chr7:104377124G>A	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.406G>A	7.37:g.104377124G>A	ENSP00000385374:p.Ala136Thr					LHFPL3_ENST00000543266.1_Intron|LHFPL3_ENST00000401970.2_Missense_Mutation_p.A136T|LHFPL3_ENST00000535008.1_Intron	p.A136T	NM_199000.2	NP_945351.1	Q86UP9	LHPL3_HUMAN			2	572	+			136					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.406G>A		.	.	.	.	.	.	.	.	.	.	G	12.11	1.840857	0.32513	.	.	ENSG00000187416	ENST00000424859;ENST00000401970	T;T	0.71461	-0.57;-0.57	5.22	5.22	0.72569	.	0.163431	0.53938	D	0.000045	T	0.50871	0.1641	N	0.03115	-0.41	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.18263	0.021;0.021	T	0.44345	-0.9334	10	0.25751	T	0.34	-15.1213	19.3361	0.94319	0.0:0.0:1.0:0.0	.	150;150	A1L384;A4D0Q5	.;.	T	136	ENSP00000393128:A136T;ENSP00000385374:A136T	ENSP00000385374:A136T	A	+	1	0	LHFPL3	104164360	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.485000	0.66850	2.878000	0.98634	0.650000	0.86243	GCC		0.398	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		11	69	0	0	0	1	0	11	69				
ZNF765	91661	broad.mit.edu	37	19	53912333	53912333	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53912333C>A	ENST00000396408.3	+	4	1642	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAAATCAAACCTTGAAAGACA	0.408																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(1525-1527)Ctt>Att		zinc finger protein 765							34.0	36.0	35.0					19																	53912333		2167	4284	6451	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912333C>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1525C>A	19.37:g.53912333C>A	ENSP00000379689:p.Leu509Ile					ZNF765_ENST00000594030.1_Intron	p.L509I	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	1642	+			509					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1525C>A	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	11.43	1.636833	0.29068	.	.	ENSG00000196417	ENST00000396408	T	0.41065	1.01	1.27	-0.14	0.13456	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65281	0.2676	M	0.92880	3.355	0.09310	N	1	B	0.33940	0.433	P	0.54210	0.745	T	0.62558	-0.6829	8	.	.	.	.	6.239	0.20778	0.0:0.6819:0.3181:0.0	.	509	Q7L2R6	ZN765_HUMAN	I	509	ENSP00000379689:L509I	.	L	+	1	0	ZNF765	58604145	0.007000	0.16637	0.000000	0.03702	0.031000	0.12232	0.205000	0.17356	-0.241000	0.09681	0.297000	0.19635	CTT		0.408	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		47	193	1	0	3.4345e-17	1	3.7875e-17	47	193				
SORCS3	22986	broad.mit.edu	37	10	106937871	106937871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106937871C>T	ENST00000369701.3	+	14	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	650					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTTTCACTTCGGTTCCTCTC	0.473																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1948-1950)tCg>tTg		sortilin-related VPS10 domain containing receptor 3							239.0	206.0	217.0					10																	106937871		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937871C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1949C>T	10.37:g.106937871C>T	ENSP00000358715:p.Ser650Leu					SORCS3_ENST00000369699.4_Intron	p.S650L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2176	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	650					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1949C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756460	0.31137	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.53640	0.61;0.61	5.48	4.54	0.55810	VPS10 (1);	0.358549	0.26840	N	0.022238	T	0.42539	0.1207	M	0.62088	1.915	0.23855	N	0.996657	B	0.12630	0.006	B	0.08055	0.003	T	0.30208	-0.9986	9	.	.	.	.	9.5487	0.39297	0.0:0.8844:0.0:0.1156	.	650	Q9UPU3	SORC3_HUMAN	L	650;95	ENSP00000358715:S650L;ENSP00000376876:S95L	.	S	+	2	0	SORCS3	106927861	0.000000	0.05858	0.497000	0.27552	0.768000	0.43524	1.064000	0.30579	1.170000	0.42753	0.460000	0.39030	TCG		0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		49	207	0	0	0	1	0	49	207				
ZNF747	65988	broad.mit.edu	37	16	30544313	30544313	+	3'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30544313C>T	ENST00000252799.3	-	0	1310				ZNF747_ENST00000568028.1_Missense_Mutation_p.R167H|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000569360.1_Missense_Mutation_p.R167H|ZNF747_ENST00000535210.1_Missense_Mutation_p.R167H|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						GGCAAAAAAGCGGGGGCGACT	0.697																																						ENST00000569360.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(499-501)cGc>cAc		zinc finger protein 747																																				SO:0001624	3_prime_UTR_variant	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544313C>T	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.*67G>A	16.37:g.30544313C>T						ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000568028.1_Missense_Mutation_p.R167H|ZNF747_ENST00000535210.1_Missense_Mutation_p.R167H|ZNF747_ENST00000395094.3_3'UTR	p.R167H			Q9BV97	ZN747_HUMAN			3	672	-			0					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.500G>A	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803038	0.16397	.	.	ENSG00000169955	ENST00000535210	T	0.05319	3.46	2.11	1.11	0.20524	.	.	.	.	.	T	0.03348	0.0097	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48019	-0.9071	6	0.12103	T	0.63	.	6.3904	0.21583	0.0:0.3426:0.6574:0.0	.	.	.	.	H	167	ENSP00000441702:R167H	ENSP00000441702:R167H	R	-	2	0	ZNF747	30451814	0.000000	0.05858	0.011000	0.14972	0.128000	0.20619	-0.124000	0.10595	0.435000	0.26365	0.313000	0.20887	CGC		0.697	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		7	181	0	0	0	1	0	7	181				
CYP4F24P	388514	broad.mit.edu	37	19	15880853	15880853	+	lincRNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15880853C>A	ENST00000595525.1	+	0	529																											CGAGTCTCACCTGAGACAATC	0.473																																						ENST00000595525.1																			0																																																			0							g.chr19:15880853C>A																													19.37:g.15880853C>A						CYP4F24P_ENST00000587443.2_RNA								0	529	+									RNA	SNP	ENST00000595525.1	37																																																																																						0.473	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			26	55	1	0	4.26978e-12	1	4.57227e-12	26	55				
WDR60	55112	broad.mit.edu	37	7	158672615	158672615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158672615C>T	ENST00000407559.3	+	5	972	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	272					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGATGAGAGGCACCAAAGCAA	0.423																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(814-816)Cac>Tac		WD repeat domain 60							76.0	79.0	78.0					7																	158672615		1890	4095	5985	SO:0001583	missense	55112							g.chr7:158672615C>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.814C>T	7.37:g.158672615C>T	ENSP00000384290:p.His272Tyr						p.H272Y	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	5	972	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	272					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.814C>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779189	0.49891	.	.	ENSG00000126870	ENST00000407559	T	0.24151	1.87	4.73	3.83	0.44106	.	0.534306	0.18461	N	0.140511	T	0.12135	0.0295	N	0.24115	0.695	0.09310	N	0.999998	P	0.44521	0.837	B	0.37451	0.25	T	0.12889	-1.0530	10	0.02654	T	1	-3.3053	9.3825	0.38322	0.0:0.8948:0.0:0.1052	.	272	Q8WVS4	WDR60_HUMAN	Y	272	ENSP00000384290:H272Y	ENSP00000384290:H272Y	H	+	1	0	WDR60	158365376	0.622000	0.27085	0.325000	0.25375	0.002000	0.02628	0.399000	0.20916	2.339000	0.79563	0.655000	0.94253	CAC		0.423	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		55	168	0	0	0	1	0	55	168				
PPL	5493	broad.mit.edu	37	16	4934369	4934369	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934369C>T	ENST00000345988.2	-	22	4376	c.4287G>A	c.(4285-4287)gcG>gcA	p.A1429A	PPL_ENST00000590782.2_Silent_p.A1427A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1429					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTGCTCCAGCGCTGCCAGCC	0.687																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4285-4287)gcG>gcA		periplakin							54.0	56.0	55.0					16																	4934369		2171	4254	6425	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934369C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4287G>A	16.37:g.4934369C>T						PPL_ENST00000590782.2_Silent_p.A1427A	p.A1429A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4376	-			1429					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4287G>A	CCDS10526.1																																																																																				0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		160	623	0	0	0	1	0	160	623				
AIFM3	150209	broad.mit.edu	37	22	21335305	21335305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21335305G>A	ENST00000399167.2	+	21	2043	c.1803G>A	c.(1801-1803)acG>acA	p.T601T	AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000405089.1_Silent_p.T600T|AIFM3_ENST00000333607.6_Silent_p.T594T|LZTR1_ENST00000479606.1_Intron|XXbac-B135H6.18_ENST00000610278.1_lincRNA|AIFM3_ENST00000465606.1_3'UTR|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000335375.5_Silent_p.T582T|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000399163.2_Silent_p.T594T	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	601					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCTGGCTTACGGGGAAAGGAT	0.612																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1801-1803)acG>acA		apoptosis-inducing factor, mitochondrion-associated, 3							79.0	68.0	72.0					22																	21335305		2203	4300	6503	SO:0001819	synonymous_variant	150209							g.chr22:21335305G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1803G>A	22.37:g.21335305G>A						AIFM3_ENST00000333607.6_Silent_p.T594T|AIFM3_ENST00000405089.1_Silent_p.T600T|AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000335375.5_Silent_p.T582T|LZTR1_ENST00000479606.1_Intron|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.T594T	p.T601T	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		21	2043	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.1803G>A	CCDS13786.1																																																																																				0.612	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		36	129	0	0	0	1	0	36	129				
PLEKHG6	55200	broad.mit.edu	37	12	6424222	6424222	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6424222T>C	ENST00000396988.3	+	4	576	c.346T>C	c.(346-348)Ttt>Ctt	p.F116L	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.F84L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	116						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTTCAGCATGTTTGGGATGCC	0.632																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(250-252)Ttt>Ctt		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							95.0	83.0	87.0					12																	6424222		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6424222T>C	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.346T>C	12.37:g.6424222T>C	ENSP00000380185:p.Phe116Leu					PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.F116L	p.F84L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			3	744	+			116					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.250T>C	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834600	0.91036	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.68765	-0.24;-0.19;-0.24;-0.35	5.0	5.0	0.66597	.	0.000000	0.51477	D	0.000090	T	0.80008	0.4545	M	0.78049	2.395	0.80722	D	1	D;D;D	0.65815	0.995;0.992;0.993	D;D;D	0.72625	0.96;0.953;0.978	T	0.81876	-0.0731	10	0.62326	D	0.03	-15.716	11.008	0.47646	0.0:0.0:0.0:1.0	.	84;116;116	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	L	116;116;116;84	ENSP00000011684:F116L;ENSP00000442836:F116L;ENSP00000380185:F116L;ENSP00000393194:F84L	ENSP00000011684:F116L	F	+	1	0	PLEKHG6	6294483	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.189000	0.65098	2.101000	0.63845	0.482000	0.46254	TTT		0.632	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		70	474	0	0	0	1	0	70	474				
SSTR1	6751	broad.mit.edu	37	14	38678962	38678962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38678962G>A	ENST00000267377.2	+	3	985	c.368G>A	c.(367-369)tGg>tAg	p.W123*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	123					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TTGCGCCACTGGCCCTTCGGT	0.587																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(367-369)tGg>tAg		somatostatin receptor 1	Octreotide(DB00104)						190.0	172.0	178.0					14																	38678962		2203	4300	6503	SO:0001587	stop_gained	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678962G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.368G>A	14.37:g.38678962G>A	ENSP00000267377:p.Trp123*						p.W123*	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	985	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		123						Nonsense_Mutation	SNP	ENST00000267377.2	37	c.368G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	42	9.702552	0.99242	.	.	ENSG00000139874	ENST00000267377	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000267377:W123X	W	+	2	0	SSTR1	37748713	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.623000	0.98386	2.583000	0.87209	0.655000	0.94253	TGG		0.587	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			203	874	0	0	0	1	0	203	874				
PLA2G7	7941	broad.mit.edu	37	6	46677077	46677077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46677077C>T	ENST00000274793.7	-	9	1052	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	286					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AATCTCTGATCTTCACTAAGA	0.284																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(856-858)Gat>Aat		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							91.0	93.0	92.0					6																	46677077		2203	4296	6499	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46677077C>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.856G>A	6.37:g.46677077C>T	ENSP00000274793:p.Asp286Asn					PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	p.D286N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		9	1052	-			286					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.856G>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345431	0.95807	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.56776	0.44;0.44	5.93	5.93	0.95920	.	0.093957	0.64402	D	0.000001	T	0.70675	0.3251	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71576	-0.4551	10	0.62326	D	0.03	.	19.9513	0.97200	0.0:1.0:0.0:0.0	.	286	Q13093	PAFA_HUMAN	N	286	ENSP00000274793:D286N;ENSP00000445666:D286N	ENSP00000274793:D286N	D	-	1	0	PLA2G7	46785036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.031000	0.76491	2.814000	0.96858	0.655000	0.94253	GAT		0.284	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			90	301	0	0	0	1	0	90	301				
SERPINA10	51156	broad.mit.edu	37	14	94756575	94756575	+	Missense_Mutation	SNP	G	G	A	rs370404211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94756575G>A	ENST00000393096.1	-	2	821	c.356C>T	c.(355-357)cCg>cTg	p.P119L	SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000554723.1_Missense_Mutation_p.P159L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	119					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTTTCAGTCGGCCCTGTGGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17904	0.0		0.0	False		,,,				2504	0.001					ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(475-477)cCg>cTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							49.0	50.0	50.0					14																	94756575		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756575G>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.356C>T	14.37:g.94756575G>A	ENSP00000376809:p.Pro119Leu					SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000393096.1_Missense_Mutation_p.P119L	p.P159L			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	894	-		all_cancers(154;0.105)	119					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.476C>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965782	0.02249	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.12	-1.12	0.09808	Serpin domain (3);	1.226040	0.05781	N	0.608681	T	0.81361	0.4806	L	0.42245	1.32	0.09310	N	1	B	0.21606	0.058	B	0.08055	0.003	T	0.64449	-0.6405	10	0.45353	T	0.12	.	8.1594	0.31190	0.125:0.0:0.4412:0.4338	.	119	Q9UK55	ZPI_HUMAN	L	159;119;119;119	ENSP00000450896:P159L;ENSP00000376809:P119L;ENSP00000261994:P119L;ENSP00000450971:P119L	ENSP00000261994:P119L	P	-	2	0	SERPINA10	93826328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.410000	0.07542	-2.087000	0.00375	CCG		0.587	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		52	241	0	0	0	1	0	52	241				
CD74	972	broad.mit.edu	37	5	149786471	149786471	+	Silent	SNP	C	C	T	rs548437679	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149786471C>T	ENST00000009530.7	-	3	352	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CD74_ENST00000377795.3_Silent_p.A117A|CD74_ENST00000524315.1_Silent_p.A117A|CD74_ENST00000353334.6_Silent_p.A117A			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	117	CLIP.				activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGGGCAGCGCCTGCATCA	0.682			T	ROS1	NSCLC								C|||	3	0.000599042	0.0	0.0	5008	,	,		18593	0.0		0.0	False		,,,				2504	0.0031					ENST00000353334.6				Dom	yes		5	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(349-351)gcG>gcA		CD74 molecule, major histocompatibility complex, class II invariant chain							21.0	24.0	23.0					5																	149786471		2203	4298	6501	SO:0001819	synonymous_variant	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149786471C>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.351G>A	5.37:g.149786471C>T						CD74_ENST00000009530.7_Silent_p.A117A|CD74_ENST00000377795.3_Silent_p.A117A|CD74_ENST00000524315.1_Silent_p.A117A	p.A117A	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	530	-		all_hematologic(541;0.224)	117			CLIP.		A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Silent	SNP	ENST00000009530.7	37	c.351G>A	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	C	4.129	0.022268	0.08006	.	.	ENSG00000019582	ENST00000518797	T	0.61627	0.09	4.51	-7.42	0.01388	.	0.989663	0.08250	N	0.974778	T	0.25901	0.0631	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	T	0.19031	-1.0318	7	0.17369	T	0.5	-1.7585	0.562	0.00680	0.212:0.1953:0.2097:0.383	.	.	.	.	T	112	ENSP00000430614:A112T	ENSP00000430614:A112T	A	-	1	0	CD74	149766664	0.000000	0.05858	0.009000	0.14445	0.490000	0.33462	-3.837000	0.00354	-1.756000	0.01318	-0.215000	0.12644	GCT		0.682	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		15	54	0	0	0	1	0	15	54				
SCN7A	6332	broad.mit.edu	37	2	167328870	167328870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167328870C>T	ENST00000409855.1	-	5	655	c.529G>A	c.(529-531)Ggt>Agt	p.G177S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	177					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CATGGATCACCGAGGAAGGAA	0.353																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(529-531)Ggt>Agt		sodium channel, voltage-gated, type VII, alpha subunit							49.0	49.0	49.0					2																	167328870		1890	4152	6042	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328870C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.529G>A	2.37:g.167328870C>T	ENSP00000386796:p.Gly177Ser						p.G177S	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			5	655	-			177						Missense_Mutation	SNP	ENST00000409855.1	37	c.529G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112005	0.77210	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98381	-4.9;-4.9;-4.9	5.37	3.45	0.39498	Ion transport (1);	0.220210	0.32401	N	0.006150	D	0.97025	0.9028	M	0.69823	2.125	0.35514	D	0.800912	D	0.56968	0.978	P	0.47251	0.542	D	0.97354	0.9965	10	0.87932	D	0	.	7.4811	0.27406	0.0:0.5845:0.3221:0.0934	.	177	Q01118	SCN7A_HUMAN	S	177	ENSP00000386796:G177S;ENSP00000413699:G177S;ENSP00000403846:G177S	ENSP00000259060:G177S	G	-	1	0	SCN7A	167037116	0.839000	0.29477	1.000000	0.80357	0.906000	0.53458	1.406000	0.34646	2.675000	0.91044	0.655000	0.94253	GGT		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			10	68	0	0	0	1	0	10	68				
FRMD6	122786	broad.mit.edu	37	14	52182142	52182142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52182142C>T	ENST00000344768.5	+	10	1145	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	FRMD6_ENST00000554167.1_Silent_p.L240L|FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000395718.2_Silent_p.L309L|FRMD6_ENST00000356218.4_Silent_p.L309L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	317	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTGCAACTTCTGAGCAACAG	0.542																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(925-927)Ctg>Ttg		FERM domain containing 6							59.0	62.0	61.0					14																	52182142		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52182142C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.949C>T	14.37:g.52182142C>T						FRMD6_ENST00000344768.5_Silent_p.L317L|FRMD6_ENST00000554167.1_Silent_p.L240L|FRMD6_ENST00000356218.4_Silent_p.L309L	p.L309L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			10	1210	+	all_epithelial(31;0.0163)|Breast(41;0.089)		317			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.925C>T	CCDS58318.1																																																																																				0.542	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		90	329	0	0	0	1	0	90	329				
CSMD3	114788	broad.mit.edu	37	8	113812486	113812486	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113812486A>G	ENST00000297405.5	-	13	2121	c.1877T>C	c.(1876-1878)gTa>gCa	p.V626A	CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A|CSMD3_ENST00000343508.3_Missense_Mutation_p.V586A|CSMD3_ENST00000352409.3_Missense_Mutation_p.V626A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	626	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGTCTGGTACAAAGCTTCC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1876-1878)gTa>gCa		CUB and Sushi multiple domains 3							134.0	118.0	123.0					8																	113812486		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113812486A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1877T>C	8.37:g.113812486A>G	ENSP00000297405:p.Val626Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.V586A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A|CSMD3_ENST00000352409.3_Missense_Mutation_p.V626A	p.V626A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			13	2121	-			626			CUB 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1877T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409375	0.83340	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.83	5.83	0.93111	CUB (5);	0.000000	0.64402	D	0.000010	T	0.26159	0.0638	L	0.41079	1.255	0.42957	D	0.994393	P;P;P	0.50819	0.928;0.939;0.826	P;P;B	0.57620	0.591;0.824;0.401	T	0.02668	-1.1126	10	0.09084	T	0.74	.	16.1997	0.82060	1.0:0.0:0.0:0.0	.	522;626;586	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	586;626;522;626	ENSP00000345799:V586A;ENSP00000297405:V626A;ENSP00000412263:V522A;ENSP00000343124:V626A	ENSP00000297405:V626A	V	-	2	0	CSMD3	113881662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.127000	0.94417	2.240000	0.73641	0.528000	0.53228	GTA		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	306	0	0	0	1	0	7	306				
RABGAP1L	9910	broad.mit.edu	37	1	174363157	174363157	+	Silent	SNP	G	G	A	rs567367046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174363157G>A	ENST00000251507.4	+	13	1758	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	RABGAP1L_ENST00000367689.3_Silent_p.P175P|RABGAP1L_ENST00000357444.6_Silent_p.P491P	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGCACGACCGAAAGGGCTGT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19552	0.0		0.0	False		,,,				2504	0.001					ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(1582-1584)ccG>ccA		RAB GTPase activating protein 1-like																																				SO:0001819	synonymous_variant	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174363157G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1584G>A	1.37:g.174363157G>A						RABGAP1L_ENST00000367689.3_Silent_p.P175P|RABGAP1L_ENST00000357444.6_Silent_p.P491P	p.P528P	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			13	1758	+			528					B7ZAA4	Silent	SNP	ENST00000251507.4	37	c.1584G>A	CCDS1314.1																																																																																				0.483	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		48	559	0	0	0	1	0	48	559				
HDAC4	9759	broad.mit.edu	37	2	240033255	240033255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240033255G>A	ENST00000345617.3	-	14	2721	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*|HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	644					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGGCTCCTGCACAGACACG	0.701																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(1930-1932)Cag>Tag		histone deacetylase 4							26.0	23.0	24.0					2																	240033255		2199	4300	6499	SO:0001587	stop_gained	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240033255G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1930C>T	2.37:g.240033255G>A	ENSP00000264606:p.Gln644*					HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*|HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*	p.Q644*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	14	2721	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	644					Q9UND6	Nonsense_Mutation	SNP	ENST00000345617.3	37	c.1930C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	39	7.730069	0.98456	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	.	.	.	4.15	4.15	0.48705	.	0.567018	0.18426	N	0.141592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	16.8141	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	644;532;228;618;527	.	ENSP00000264606:Q644X	Q	-	1	0	HDAC4	239698192	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	8.974000	0.93433	2.038000	0.60285	0.591000	0.81541	CAG		0.701	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		9	132	0	0	0	1	0	9	132				
GFPT2	9945	broad.mit.edu	37	5	179758500	179758500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179758500A>C	ENST00000253778.8	-	5	563	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	132	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTACCAGAAATTTCCTCAGA	0.438																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(394-396)Ttt>Gtt		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						79.0	77.0	78.0					5																	179758500		1835	4097	5932	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179758500A>C	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.394T>G	5.37:g.179758500A>C	ENSP00000253778:p.Phe132Val						p.F132V	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	563	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	132			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.394T>G	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437962	0.83885	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76186	-1.0;-1.0	5.48	5.48	0.80851	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.051822	0.85682	D	0.000000	T	0.73860	0.3641	L	0.41027	1.25	0.58432	D	0.999991	P	0.42692	0.787	P	0.48921	0.595	T	0.72221	-0.4356	9	.	.	.	-18.5472	15.25	0.73536	1.0:0.0:0.0:0.0	.	132	O94808	GFPT2_HUMAN	V	132;34	ENSP00000253778:F132V;ENSP00000431125:F34V	.	F	-	1	0	GFPT2	179691106	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	9.094000	0.94168	2.084000	0.62774	0.459000	0.35465	TTT		0.438	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		41	151	0	0	0	1	0	41	151				
C1orf174	339448	broad.mit.edu	37	1	3807396	3807396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3807396G>T	ENST00000361605.3	-	3	453	c.355C>A	c.(355-357)Ctt>Att	p.L119I	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	119						nucleus (GO:0005634)		p.L119F(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAGAGGAAGACTTGCAGCC	0.567																																						ENST00000361605.3																			1	Substitution - Missense(1)	p.L119F(1)	lung(1)	endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11						c.(355-357)Ctt>Att		chromosome 1 open reading frame 174							60.0	56.0	57.0					1																	3807396		2203	4300	6503	SO:0001583	missense	339448							g.chr1:3807396G>T	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.355C>A	1.37:g.3807396G>T	ENSP00000355306:p.Leu119Ile					C1orf174_ENST00000486765.1_5'UTR	p.L119I	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	3	453	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	119					A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	c.355C>A	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	7.960	0.746792	0.15710	.	.	ENSG00000198912	ENST00000361605	T	0.06687	3.27	5.21	0.505	0.16953	.	0.903882	0.09604	N	0.779923	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37387	0.248	T	0.36890	-0.9729	10	0.15066	T	0.55	0.0171	5.3028	0.15788	0.2274:0.3099:0.4627:0.0	.	119	Q8IYL3	CA174_HUMAN	I	119	ENSP00000355306:L119I	ENSP00000355306:L119I	L	-	1	0	C1orf174	3797256	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.130000	0.10498	0.195000	0.20347	0.563000	0.77884	CTT		0.567	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		16	209	1	0	4.14922e-12	1	4.44601e-12	16	209				
ALPK1	80216	broad.mit.edu	37	4	113352781	113352781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352781G>A	ENST00000458497.1	+	11	2357	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	693							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTCTAGAAGGAGCTCCAGAA	0.498																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2077-2079)gGa>gAa		alpha-kinase 1							51.0	54.0	53.0					4																	113352781		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352781G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2078G>A	4.37:g.113352781G>A	ENSP00000398048:p.Gly693Glu					ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E|ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E	p.G693E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2357	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	693					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2078G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792700	0.31685	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.32;4.32;4.24	4.65	-0.601	0.11638	.	1.614930	0.03874	N	0.276041	T	0.03871	0.0109	L	0.54323	1.7	0.09310	N	1	B;B;B	0.24882	0.033;0.113;0.02	B;B;B	0.27170	0.067;0.077;0.018	T	0.47471	-0.9115	10	0.20046	T	0.44	0.031	4.372	0.11253	0.345:0.0:0.5098:0.1452	.	615;615;693	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	693;693;615	ENSP00000398048:G693E;ENSP00000177648:G693E;ENSP00000426044:G615E	ENSP00000177648:G693E	G	+	2	0	ALPK1	113572230	0.000000	0.05858	0.001000	0.08648	0.380000	0.30137	-0.067000	0.11579	-0.212000	0.10109	0.655000	0.94253	GGA		0.498	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		52	238	0	0	0	1	0	52	238				
FGFR4	2264	broad.mit.edu	37	5	176518013	176518013	+	Missense_Mutation	SNP	C	C	T	rs139464025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176518013C>T	ENST00000292408.4	+	5	756	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	171	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CGTCAAGTTCCGCTGTCCAGC	0.612										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(511-513)Cgc>Tgc		fibroblast growth factor receptor 4	Palifermin(DB00039)	C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	73.0	79.0		511,511,511	4.7	1.0	5	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense,missense	FGFR4	NM_002011.3,NM_022963.2,NM_213647.1	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	171/803,171/763,171/803	176518013	1,13005	2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176518013C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.511C>T	5.37:g.176518013C>T	ENSP00000292408:p.Arg171Cys	TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C	p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	756	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	171			Ig-like C2-type 2.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.511C>T	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632707	0.87660	2.27E-4	0.0	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;0.999	D	0.85843	0.1399	10	0.66056	D	0.02	.	17.5207	0.87786	0.0:1.0:0.0:0.0	.	171;171;171;171	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	C	171;171;171;171;171;171;283	ENSP00000292408:R171C;ENSP00000424905:R171C;ENSP00000377259:R171C;ENSP00000424960:R171C;ENSP00000292410:R171C;ENSP00000377254:R171C	ENSP00000292408:R171C	R	+	1	0	FGFR4	176450619	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.179000	0.50887	2.470000	0.83445	0.561000	0.74099	CGC		0.612	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			71	153	0	0	0	1	0	71	153				
TTF2	8458	broad.mit.edu	37	1	117618864	117618864	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117618864A>C	ENST00000369466.4	+	6	1382	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	446					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATCAAACAAATCCAGGAGC	0.473																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1336-1338)caA>caC		transcription termination factor, RNA polymerase II							102.0	96.0	98.0					1																	117618864		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117618864A>C	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1338A>C	1.37:g.117618864A>C	ENSP00000358478:p.Gln446His						p.Q446H	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	6	1382	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	446					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.1338A>C	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031989	0.35893	.	.	ENSG00000116830	ENST00000369466	D	0.88509	-2.39	5.41	1.8	0.24995	.	0.000000	0.36101	N	0.002792	D	0.90580	0.7047	M	0.77103	2.36	0.48135	D	0.999592	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.89087	0.3480	10	0.62326	D	0.03	-15.3366	7.9556	0.30040	0.6752:0.0:0.3248:0.0	.	446;446	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	H	446	ENSP00000358478:Q446H	ENSP00000358478:Q446H	Q	+	3	2	TTF2	117420387	1.000000	0.71417	0.964000	0.40570	0.023000	0.10783	1.772000	0.38552	0.104000	0.17725	-1.144000	0.01866	CAA		0.473	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			45	185	0	0	0	1	0	45	185				
HERC2	8924	broad.mit.edu	37	15	28463640	28463640	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28463640T>G	ENST00000261609.7	-	38	6131	c.6023A>C	c.(6022-6024)aAg>aCg	p.K2008T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATACATGTCTTGTCCGTCGT	0.557																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6022-6024)aAg>aCg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							65.0	80.0	74.0					15																	28463640		1391	2356	3747	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28463640T>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6023A>C	15.37:g.28463640T>G	ENSP00000261609:p.Lys2008Thr						p.K2008T	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6131	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2008						Missense_Mutation	SNP	ENST00000261609.7	37	c.6023A>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	9.983	1.228679	0.22542	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	4.4	3.25	0.37280	.	0.110120	0.64402	N	0.000015	T	0.28962	0.0719	L	0.33485	1.01	0.58432	D	0.999999	B	0.18741	0.03	B	0.15052	0.012	T	0.05616	-1.0874	10	0.15952	T	0.53	.	11.3329	0.49487	0.0:0.0:0.1525:0.8475	.	2008	O95714	HERC2_HUMAN	T	2008	ENSP00000261609:K2008T	ENSP00000261609:K2008T	K	-	2	0	HERC2	26137235	1.000000	0.71417	0.984000	0.44739	0.404000	0.30871	3.061000	0.49963	0.805000	0.34159	0.528000	0.53228	AAG		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		93	408	0	0	0	1	0	93	408				
AAED1	195827	broad.mit.edu	37	9	99404096	99404096	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99404096A>C	ENST00000375234.3	-	6	625	c.626T>G	c.(625-627)cTt>cGt	p.L209R		NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	209																	AACTCCTACAAGCTGTAAAAC	0.388																																						ENST00000375234.3																			0											c.(625-627)cTt>cGt		AhpC/TSA antioxidant enzyme domain containing 1							120.0	111.0	114.0					9																	99404096		2203	4300	6503	SO:0001583	missense	195827						antioxidant activity|oxidoreductase activity	g.chr9:99404096A>C	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 21"""	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.626T>G	9.37:g.99404096A>C	ENSP00000364382:p.Leu209Arg						p.L209R	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN			6	625	-			209					B2RMW4|Q5JU02	Missense_Mutation	SNP	ENST00000375234.3	37	c.626T>G	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.07|17.07	3.294235|3.294235	0.60086|0.60086	.|.	.|.	ENSG00000158122|ENSG00000158122	ENST00000375234;ENST00000375233|ENST00000411939	T|T	0.50548|0.49720	0.74|0.77	5.29|5.29	4.14|4.14	0.48551|0.48551	.|.	0.066611|0.066611	0.64402|0.64402	D|D	0.000008|0.000008	T|T	0.48295|0.48295	0.1492|0.1492	M|M	0.66939|0.66939	2.045|2.045	0.52501|0.52501	D|D	0.999959|0.999959	D|.	0.71674|.	0.998|.	D|.	0.66602|.	0.945|.	T|T	0.37572|0.37572	-0.9700|-0.9700	10|8	0.66056|0.13470	D|T	0.02|0.59	-12.0304|-12.0304	7.0367|7.0367	0.24996|0.24996	0.6983:0.1541:0.0:0.1476|0.6983:0.1541:0.0:0.1476	.|.	209|.	Q7RTV5|.	CI021_HUMAN|.	R|V	209;165|93	ENSP00000364382:L209R|ENSP00000412378:L93V	ENSP00000364381:L165R|ENSP00000412378:L93V	L|L	-|-	2|1	0|2	C9orf21|C9orf21	98443917|98443917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.427000|5.427000	0.66483|0.66483	1.009000|1.009000	0.39289|0.39289	0.533000|0.533000	0.62120|0.62120	CTT|TTG		0.388	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698		73	334	0	0	0	1	0	73	334				
DDX4	54514	broad.mit.edu	37	5	55076936	55076936	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55076936G>A	ENST00000505374.1	+	9	631	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DDX4_ENST00000353507.5_Missense_Mutation_p.G146D|DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D|DDX4_ENST00000511853.1_Missense_Mutation_p.G47D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	180	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGCACTGGTGGCCTTTTTGGT	0.338																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(538-540)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							105.0	105.0	105.0					5																	55076936		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55076936G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.539G>A	5.37:g.55076936G>A	ENSP00000424838:p.Gly180Asp					DDX4_ENST00000511853.1_Missense_Mutation_p.G47D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D|DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000353507.5_Missense_Mutation_p.G146D	p.G180D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			9	631	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	180			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.539G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993511	0.54041	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.25085	1.91;1.85;1.82;3.35;1.91;1.87	5.39	5.39	0.77823	.	0.248184	0.39475	N	0.001360	T	0.17831	0.0428	N	0.22421	0.69	0.35274	D	0.780699	P;P;B;P	0.43826	0.547;0.779;0.41;0.818	B;B;B;B	0.37650	0.245;0.184;0.211;0.255	T	0.14896	-1.0456	10	0.37606	T	0.19	-24.5727	14.5308	0.67923	0.0:0.0:1.0:0.0	.	160;47;146;180	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	D	146;160;180;160;146;47	ENSP00000334167:G146D;ENSP00000425359:G160D;ENSP00000424838:G180D;ENSP00000427167:G160D;ENSP00000347087:G146D;ENSP00000423123:G47D	ENSP00000334167:G146D	G	+	2	0	DDX4	55112693	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.772000	0.47678	2.801000	0.96364	0.650000	0.86243	GGC		0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		70	339	0	0	0	1	0	70	339				
PTPRF	5792	broad.mit.edu	37	1	44056764	44056764	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056764G>A	ENST00000359947.4	+	9	1411	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	PTPRF_ENST00000372413.3_Silent_p.A357A|PTPRF_ENST00000438120.1_Silent_p.A357A|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Silent_p.A357A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGCGCAGCGGGCACGGAGG	0.612																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1069-1071)gcG>gcA		protein tyrosine phosphatase, receptor type, F							73.0	81.0	78.0					1																	44056764		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056764G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1071G>A	1.37:g.44056764G>A						PTPRF_ENST00000372414.3_Silent_p.A357A|PTPRF_ENST00000372413.3_Silent_p.A357A|PTPRF_ENST00000438120.1_Silent_p.A357A	p.A357A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			9	1411	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	357			Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.1071G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.724|9.724	1.160491|1.160491	0.21454|0.21454	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568|ENST00000429895	.|.	.|.	.|.	5.48|5.48	-4.51|-4.51	0.03483|0.03483	.|.	.|.	.|.	.|.	.|.	T|T	0.45115|0.45115	0.1326|0.1326	.|.	.|.	.|.	0.33155|0.33155	D|D	0.546231|0.546231	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52193|0.52193	-0.8608|-0.8608	4|4	.|.	.|.	.|.	.|.	9.8855|9.8855	0.41260|0.41260	0.634:0.0:0.2527:0.1133|0.634:0.0:0.2527:0.1133	.|.	.|.	.|.	.|.	R|Q	25|14	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43829351|43829351	0.008000|0.008000	0.16893|0.16893	0.036000|0.036000	0.18154|0.18154	0.961000|0.961000	0.63080|0.63080	-0.143000|-0.143000	0.10296|0.10296	-1.210000|-1.210000	0.02627|0.02627	-0.253000|-0.253000	0.11424|0.11424	GGG|CGG		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			123	510	0	0	0	1	0	123	510				
CCKBR	887	broad.mit.edu	37	11	6292613	6292613	+	Missense_Mutation	SNP	G	G	A	rs200480495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6292613G>A	ENST00000334619.2	+	5	1377	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H|CCKBR_ENST00000525462.1_Missense_Mutation_p.R464H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	395					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCATGCACCGTCGCTTTCGC	0.647																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1390-1392)cGt>cAt		cholecystokinin B receptor	Pentagastrin(DB00183)						101.0	88.0	92.0					11																	6292613		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292613G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1184G>A	11.37:g.6292613G>A	ENSP00000335544:p.Arg395His					CCKBR_ENST00000334619.2_Missense_Mutation_p.R395H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H	p.R464H			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1394	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	395					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.1391G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618093	0.66787	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.39592	1.07;1.07;1.07	5.24	5.24	0.73138	.	0.320210	0.28996	N	0.013466	T	0.50188	0.1601	L	0.34521	1.04	0.32301	N	0.565033	D;D	0.89917	0.999;1.0	D;D	0.69654	0.965;0.943	T	0.59726	-0.7400	10	0.62326	D	0.03	.	10.9615	0.47387	0.0865:0.0:0.9135:0.0	.	464;395	P32239-2;P32239	.;GASR_HUMAN	H	395;311;464	ENSP00000335544:R395H;ENSP00000432079:R311H;ENSP00000435534:R464H	ENSP00000335544:R395H	R	+	2	0	CCKBR	6249189	0.012000	0.17670	0.999000	0.59377	0.992000	0.81027	0.735000	0.26115	2.425000	0.82216	0.557000	0.71058	CGT		0.647	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		70	623	0	0	0	1	0	70	623				
TLN1	7094	broad.mit.edu	37	9	35715139	35715139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715139G>A	ENST00000314888.9	-	21	3024	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	891					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCCTCCCGCAGCCGCTGC	0.612																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2671-2673)Cgg>Tgg		talin 1							32.0	37.0	35.0					9																	35715139		2199	4291	6490	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35715139G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2671C>T	9.37:g.35715139G>A	ENSP00000316029:p.Arg891Trp					TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	p.R891W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		21	3024	-	all_epithelial(49;0.167)		891					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2671C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324828	0.81580	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71461	-0.57;-0.57	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85871	0.1416	10	0.72032	D	0.01	-18.1456	13.4827	0.61345	0.0:0.0:0.5988:0.4011	.	891	Q9Y490	TLN1_HUMAN	W	891	ENSP00000316029:R891W;ENSP00000442981:R891W	ENSP00000316029:R891W	R	-	1	2	TLN1	35705139	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	2.674000	0.46867	1.361000	0.45981	0.561000	0.74099	CGG		0.612	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		62	326	0	0	0	1	0	62	326				
PRDM2	7799	broad.mit.edu	37	1	14075893	14075893	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14075893A>C	ENST00000235372.7	+	6	1278	c.422A>C	c.(421-423)aAt>aCt	p.N141T	PRDM2_ENST00000505823.1_5'Flank|PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T|PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000413440.1_5'Flank|PRDM2_ENST00000343137.4_5'Flank	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	141	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTCTGGTACAATGGGGAAGAC	0.667																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(421-423)aAt>aCt		PR domain containing 2, with ZNF domain							17.0	19.0	18.0					1																	14075893		2197	4291	6488	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14075893A>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.422A>C	1.37:g.14075893A>C	ENSP00000235372:p.Asn141Thr					PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T	p.N141T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	6	1278	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	141			SET.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.422A>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	a	14.81	2.646882	0.47258	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.69	3.69	0.42338	SET domain (3);	0.117295	0.56097	D	0.000024	T	0.78246	0.4253	L	0.34521	1.04	0.44129	D	0.996916	B;B;B	0.28178	0.202;0.168;0.005	B;B;B	0.39771	0.309;0.205;0.021	T	0.75453	-0.3312	10	0.39692	T	0.17	.	10.6381	0.45577	1.0:0.0:0.0:0.0	.	141;141;141	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	T	132;141;141;141;141	ENSP00000423010:N132T;ENSP00000365216:N141T;ENSP00000235372:N141T;ENSP00000312352:N141T	ENSP00000235372:N141T	N	+	2	0	PRDM2	13948480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.925000	0.56484	1.661000	0.50771	0.524000	0.50904	AAT		0.667	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		18	90	0	0	0	1	0	18	90				
CACNA1G	8913	broad.mit.edu	37	17	48677208	48677208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48677208C>T	ENST00000359106.5	+	17	3678	c.3678C>T	c.(3676-3678)gaC>gaT	p.D1226D	CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000352832.5_Silent_p.D1203D|CACNA1G_ENST00000507896.1_Silent_p.D1226D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000513964.1_Silent_p.D1226D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1226					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGCCGATGACGAGGGCAACC	0.652																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3607-3609)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						20.0	23.0	22.0					17																	48677208		1998	4146	6144	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48677208C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3678C>T	17.37:g.48677208C>T						CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000359106.5_Silent_p.D1226D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000513964.1_Silent_p.D1226D|CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000507896.1_Silent_p.D1226D	p.D1203D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3981	+	Breast(11;6.7e-17)		1226					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.3609C>T	CCDS45730.1																																																																																				0.652	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		21	158	0	0	0	1	0	21	158				
NUCB2	4925	broad.mit.edu	37	11	17316892	17316892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17316892C>T	ENST00000529010.1	+	3	241	c.22C>T	c.(22-24)Cta>Tta	p.L8L	NUCB2_ENST00000323688.6_Silent_p.L8L|NUCB2_ENST00000458064.2_Silent_p.L8L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	8						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACCATCCTGCTACAGTATTG	0.353																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(22-24)Cta>Tta		nucleobindin 2							301.0	278.0	285.0					11																	17316892		1892	4121	6013	SO:0001819	synonymous_variant	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17316892C>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.22C>T	11.37:g.17316892C>T						NUCB2_ENST00000458064.2_Silent_p.L8L|NUCB2_ENST00000323688.6_Silent_p.L8L	p.L8L	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			3	241	+			8					A8K642|D3DQX5|Q8NFT5	Silent	SNP	ENST00000529010.1	37	c.22C>T	CCDS41623.1																																																																																				0.353	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		156	660	0	0	0	1	0	156	660				
HEPHL1	341208	broad.mit.edu	37	11	93808358	93808358	+	Missense_Mutation	SNP	C	C	T	rs188507582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93808358C>T	ENST00000315765.9	+	9	1531	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	508	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAACCAGGGGCGCATGTTAAA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20863	0.0		0.001	False		,,,				2504	0.0					ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1522-1524)gCg>gTg		hephaestin-like 1							65.0	60.0	62.0					11																	93808358		1947	4144	6091	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93808358C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1523C>T	11.37:g.93808358C>T	ENSP00000313699:p.Ala508Val						p.A508V	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			9	1531	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	508			Plastocyanin-like 3.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1523C>T	CCDS44710.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.80	2.642441	0.47153	.	.	ENSG00000181333	ENST00000315765	D	0.99470	-5.96	5.46	5.46	0.80206	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.112238	0.64402	D	0.000014	D	0.98337	0.9448	L	0.56769	1.78	0.46954	D	0.999266	P	0.35872	0.525	B	0.32583	0.148	D	0.99968	1.1900	10	0.19590	T	0.45	.	19.3118	0.94189	0.0:1.0:0.0:0.0	.	508	Q6MZM0	HPHL1_HUMAN	V	508	ENSP00000313699:A508V	ENSP00000313699:A508V	A	+	2	0	HEPHL1	93448006	1.000000	0.71417	0.959000	0.39883	0.802000	0.45316	5.618000	0.67722	2.548000	0.85928	0.650000	0.86243	GCG		0.463	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		20	96	0	0	0	1	0	20	96				
ASPRV1	151516	broad.mit.edu	37	2	70188262	70188262	+	Missense_Mutation	SNP	C	C	T	rs371446435		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70188262C>T	ENST00000320256.4	-	1	1135	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TTGGCAAAGACGATCTCTTTG	0.602																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(559-561)Gtc>Atc		aspartic peptidase, retroviral-like 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	60.0	64.0	63.0		559	-1.8	1.0	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASPRV1	NM_152792.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	187/344	70188262	2,13004	2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188262C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.559G>A	2.37:g.70188262C>T	ENSP00000315383:p.Val187Ile						p.V187I	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1135	-			187						Missense_Mutation	SNP	ENST00000320256.4	37	c.559G>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195561	0.22037	2.27E-4	1.16E-4	ENSG00000244617	ENST00000320256	T	0.49139	0.79	5.35	-1.79	0.07932	.	0.374473	0.18098	N	0.151771	T	0.26340	0.0643	L	0.27053	0.805	0.21782	N	0.999542	P	0.38504	0.634	B	0.25884	0.064	T	0.08534	-1.0717	10	0.36615	T	0.2	-15.2616	13.0216	0.58791	0.1264:0.2544:0.6192:0.0	.	187	Q53RT3	APRV1_HUMAN	I	187	ENSP00000315383:V187I	ENSP00000315383:V187I	V	-	1	0	ASPRV1	70041766	0.044000	0.20184	0.980000	0.43619	0.998000	0.95712	-1.908000	0.01587	-0.321000	0.08627	0.561000	0.74099	GTC		0.602	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		72	364	0	0	0	1	0	72	364				
HABP4	22927	broad.mit.edu	37	9	99220689	99220689	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99220689G>T	ENST00000375249.4	+	2	453	c.378G>T	c.(376-378)gaG>gaT	p.E126D	HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GAAGAGGGGAGCAGCAAGGAT	0.527																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(376-378)gaG>gaT		hyaluronan binding protein 4							99.0	102.0	101.0					9																	99220689		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99220689G>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.378G>T	9.37:g.99220689G>T	ENSP00000364398:p.Glu126Asp					HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	p.E126D	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			2	453	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	126						Missense_Mutation	SNP	ENST00000375249.4	37	c.378G>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380545	0.42207	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.35973	1.28;1.47	4.58	4.58	0.56647	.	0.428708	0.25329	N	0.031444	T	0.39009	0.1062	L	0.31476	0.935	0.35363	D	0.78836	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.978	T	0.43605	-0.9381	10	0.17369	T	0.5	-14.568	5.418	0.16384	0.2457:0.0:0.7543:0.0	.	126;126	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	D	126	ENSP00000364400:E126D;ENSP00000364398:E126D	ENSP00000364398:E126D	E	+	3	2	HABP4	98260510	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.657000	0.37366	2.375000	0.81037	0.563000	0.77884	GAG		0.527	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		16	596	1	0	1.56452e-12	1	1.68123e-12	16	596				
ERI1	90459	broad.mit.edu	37	8	8875870	8875870	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8875870T>C	ENST00000523898.1	+	6	1325	c.646T>C	c.(646-648)Ttg>Ctg	p.L216L	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Silent_p.L216L|ERI1_ENST00000519292.1_Silent_p.L216L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	216	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						CTGGATGAAATTGAAGGAATT	0.294																																						ENST00000523898.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(646-648)Ttg>Ctg		exoribonuclease 1	Adenosine monophosphate(DB00131)						53.0	56.0	55.0					8																	8875870		2203	4299	6502	SO:0001819	synonymous_variant	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8875870T>C	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.646T>C	8.37:g.8875870T>C						ERI1_ENST00000519292.1_Silent_p.L216L|ERI1_ENST00000250263.7_Silent_p.L216L|ERI1_ENST00000520332.1_3'UTR	p.L216L			Q8IV48	ERI1_HUMAN			6	1325	+			216			Exonuclease.		A8K4U7|Q9NSX3	Silent	SNP	ENST00000523898.1	37	c.646T>C	CCDS5972.1																																																																																				0.294	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		46	152	0	0	0	1	0	46	152				
PLEC	5339	broad.mit.edu	37	8	144995573	144995573	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995573G>T	ENST00000322810.4	-	32	8996	c.8827C>A	c.(8827-8829)Ctg>Atg	p.L2943M	PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M|PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M|PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2943	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGGCCTCCAGCAGGCGGATG	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8827-8829)Ctg>Atg		plectin							45.0	50.0	48.0					8																	144995573		1991	4149	6140	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995573G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8827C>A	8.37:g.144995573G>T	ENSP00000323856:p.Leu2943Met					PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M|PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M	p.L2943M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8996	-			2943			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8827C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867622	0.32977	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.95	4.07	0.47477	.	0.000000	0.52532	U	0.000073	D	0.96719	0.8929	M	0.86343	2.81	0.49051	D	0.999745	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97029	0.9749	10	0.72032	D	0.01	.	13.1119	0.59278	0.0792:0.0:0.9208:0.0	.	2833;2792;2784;2943;2774;2806;2810;2806	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2806;2810;2806;2774;2943;2784;2792;2833;2829	ENSP00000344848:L2806M;ENSP00000350277:L2810M;ENSP00000346602:L2806M;ENSP00000381756:L2774M;ENSP00000323856:L2943M;ENSP00000347044:L2784M;ENSP00000348702:L2792M;ENSP00000388180:L2833M;ENSP00000434583:L2829M	ENSP00000323856:L2943M	L	-	1	2	PLEC	145067561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.889000	0.56212	1.236000	0.43740	0.456000	0.33151	CTG		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		110	532	1	0	6.01805e-51	1	7.46351e-51	110	532				
NSD1	64324	broad.mit.edu	37	5	176722104	176722104	+	Nonsense_Mutation	SNP	C	C	T	rs142579918	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176722104C>T	ENST00000439151.2	+	23	7780	c.7735C>T	c.(7735-7737)Cag>Tag	p.Q2579*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2579				PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049). {ECO:0000305}.	gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGTGAAGCAGGCGAAGCA	0.607			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(7735-7737)Cag>Tag		nuclear receptor binding SET domain protein 1							36.0	36.0	36.0					5																	176722104		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176722104C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7735C>T	5.37:g.176722104C>T	ENSP00000395929:p.Gln2579*	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*	p.Q2579*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7780	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2579	PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049).				Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.7735C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	42	9.414138	0.99164	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	3.1	3.1	0.35709	.	0.288101	0.25250	N	0.032027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.6065	0.62050	0.0:1.0:0.0:0.0	.	.	.	.	X	2310;2579;2310;2476	.	ENSP00000343209:Q2310X	Q	+	1	0	NSD1	176654710	0.681000	0.27614	1.000000	0.80357	0.231000	0.25187	1.008000	0.29872	2.070000	0.61991	0.462000	0.41574	CAG		0.607	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		81	244	0	0	0	1	0	81	244				
ZNF829	374899	broad.mit.edu	37	19	37382697	37382697	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382697G>T	ENST00000391711.3	-	6	1360	c.996C>A	c.(994-996)gcC>gcA	p.A332A	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Silent_p.A413A|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTATTAAAGGCCTTCCCAC	0.413																																						ENST00000520965.1																			0				endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1237-1239)gcC>gcA		zinc finger protein 829							73.0	75.0	74.0					19																	37382697		2198	4300	6498	SO:0001819	synonymous_variant	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37382697G>T	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.996C>A	19.37:g.37382697G>T						ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Silent_p.A332A	p.A413A	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1305	-	Esophageal squamous(110;0.183)		332					Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	37	c.1239C>A	CCDS42557.1																																																																																				0.413	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		43	205	1	0	1.62957e-23	1	1.85347e-23	43	205				
GPR133	283383	broad.mit.edu	37	12	131622691	131622691	+	Missense_Mutation	SNP	G	G	A	rs368828722		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622691G>A	ENST00000261654.5	+	24	3005	c.2446G>A	c.(2446-2448)Gcc>Acc	p.A816T	GPR133_ENST00000535015.1_Missense_Mutation_p.A848T|GPR133_ENST00000376682.4_Missense_Mutation_p.A502T|GPR133_ENST00000543617.1_Missense_Mutation_p.A335T|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	816					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTGAGAGCCGCCTTCAAGCA	0.597																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2446-2448)Gcc>Acc		G protein-coupled receptor 133		G	THR/ALA	0,4406		0,0,2203	78.0	65.0	69.0		2446	4.6	1.0	12		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR133	NM_198827.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	816/875	131622691	1,13005	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131622691G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2446G>A	12.37:g.131622691G>A	ENSP00000261654:p.Ala816Thr					GPR133_ENST00000543617.1_Missense_Mutation_p.A335T|GPR133_ENST00000535015.1_Missense_Mutation_p.A848T|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Missense_Mutation_p.A502T	p.A816T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	24	3005	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		816					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.2446G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950788	0.73787	0.0	1.16E-4	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.56444	1.22;0.46;0.46;0.46	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.29908	0.895	0.80722	D	1	D;P;P	0.56287	0.975;0.627;0.946	P;B;P	0.54060	0.741;0.081;0.699	T	0.54139	-0.8338	10	0.42905	T	0.14	.	14.9569	0.71124	0.0:0.0:1.0:0.0	.	848;169;816	B7ZLF7;Q9NSM3;Q6QNK2	.;.;GP133_HUMAN	T	816;848;502;335	ENSP00000261654:A816T;ENSP00000444425:A848T;ENSP00000365872:A502T;ENSP00000438021:A335T	ENSP00000261654:A816T	A	+	1	0	GPR133	130188644	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.661000	0.83786	2.106000	0.64143	0.561000	0.74099	GCC		0.597	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		60	259	0	0	0	1	0	60	259				
ZNF862	643641	broad.mit.edu	37	7	149559064	149559064	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559064G>T	ENST00000223210.4	+	7	3060	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	939					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTTTGACGCAGACCGACCCCC	0.547																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(2815-2817)Gac>Tac		zinc finger protein 862							122.0	129.0	127.0					7																	149559064		2049	4179	6228	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149559064G>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2815G>T	7.37:g.149559064G>T	ENSP00000223210:p.Asp939Tyr						p.D939Y	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	3060	+			939					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2815G>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280198	0.10458	.	.	ENSG00000106479	ENST00000223210	T	0.01126	5.3	5.39	3.55	0.40652	.	0.225743	0.30911	N	0.008632	T	0.01061	0.0035	L	0.27053	0.805	0.29742	N	0.837006	P	0.44877	0.845	B	0.39840	0.311	T	0.48703	-0.9012	10	0.51188	T	0.08	-18.637	7.7891	0.29110	0.0885:0.1623:0.7492:0.0	.	939	O60290	ZN862_HUMAN	Y	939	ENSP00000223210:D939Y	ENSP00000223210:D939Y	D	+	1	0	ZNF862	149189997	0.099000	0.21834	0.780000	0.31762	0.275000	0.26752	1.241000	0.32743	1.255000	0.44051	0.655000	0.94253	GAC		0.547	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		99	604	1	0	3.36245e-48	1	4.14781e-48	99	604				
PPARA	5465	broad.mit.edu	37	22	46627925	46627925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46627925C>T	ENST00000396000.2	+	7	1213	c.948C>T	c.(946-948)gcC>gcT	p.A316A	PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000262735.5_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Silent_p.A316A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	316	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|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)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TTTATGAGGCCATATTCGCCA	0.473																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(946-948)gcC>gcT		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						142.0	127.0	132.0					22																	46627925		2203	4300	6503	SO:0001819	synonymous_variant	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627925C>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.948C>T	22.37:g.46627925C>T						PPARA_ENST00000407236.1_Silent_p.A316A|PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Silent_p.A316A	p.A316A			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	7	1213	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	316			Ligand-binding.|Required for heterodimerization with RXRA.		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	ENST00000396000.2	37	c.948C>T	CCDS33669.1																																																																																				0.473	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		18	568	0	0	0	1	0	18	568				
ZNF79	7633	broad.mit.edu	37	9	130206888	130206888	+	Missense_Mutation	SNP	G	G	T	rs148184910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130206888G>T	ENST00000342483.5	+	5	1315	c.909G>T	c.(907-909)aaG>aaT	p.K303N	ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCGGAGAGAAGCCCTACGAAT	0.557																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(907-909)aaG>aaT		zinc finger protein 79		G	ASN/LYS	0,4406		0,0,2203	120.0	105.0	110.0		909	-4.4	0.5	9	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF79	NM_007135.2	94	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	303/499	130206888	2,13004	2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206888G>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.909G>T	9.37:g.130206888G>T	ENSP00000362446:p.Lys303Asn					ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	p.K303N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1315	+			303					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.909G>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975074	0.53720	0.0	2.33E-4	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.26067	1.76;1.76	3.83	-4.36	0.03645	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41627	0.1167	M	0.69463	2.115	0.39429	D	0.967041	D	0.71674	0.998	D	0.68483	0.958	T	0.49224	-0.8962	9	0.87932	D	0	.	11.344	0.49550	0.7632:0.0:0.2368:0.0	.	303	Q15937	ZNF79_HUMAN	N	303;279	ENSP00000362446:K303N;ENSP00000438418:K279N	ENSP00000362446:K303N	K	+	3	2	ZNF79	129246709	0.854000	0.29725	0.516000	0.27786	0.938000	0.57974	-0.018000	0.12568	-1.111000	0.02988	-0.136000	0.14681	AAG		0.557	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		86	418	1	0	2.18481e-45	1	2.67909e-45	86	418				
TPST2	8459	broad.mit.edu	37	22	26937351	26937351	+	Silent	SNP	C	C	T	rs200681170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26937351C>T	ENST00000338754.4	-	3	516	c.246G>A	c.(244-246)acG>acA	p.T82T	TPST2_ENST00000403880.1_Silent_p.T82T|TPST2_ENST00000398110.2_Silent_p.T82T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	82					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGCGCATCAACGTGGTGCCAC	0.672																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(244-246)acG>acA		tyrosylprotein sulfotransferase 2							52.0	38.0	42.0					22																	26937351		2203	4290	6493	SO:0001819	synonymous_variant	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937351C>T	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.246G>A	22.37:g.26937351C>T						TPST2_ENST00000398110.2_Silent_p.T82T|TPST2_ENST00000403880.1_Silent_p.T82T	p.T82T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN			3	516	-			82					B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	ENST00000338754.4	37	c.246G>A	CCDS13839.1																																																																																				0.672	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		42	156	0	0	0	1	0	42	156				
TXLNG	55787	broad.mit.edu	37	X	16855753	16855753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16855753C>T	ENST00000380122.5	+	8	1158	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	366					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAATTCCAGACTACCATGGCA	0.313																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(1096-1098)aCt>aTt		taxilin gamma							90.0	78.0	82.0					X																	16855753		2202	4300	6502	SO:0001583	missense	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16855753C>T	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.1097C>T	X.37:g.16855753C>T	ENSP00000369465:p.Thr366Ile					TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	p.T366I	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			8	1158	+			366					Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	37	c.1097C>T	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776198	0.70107	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.30981	1.51;1.51	5.41	5.41	0.78517	.	0.049162	0.85682	D	0.000000	T	0.48572	0.1507	L	0.43152	1.355	0.54753	D	0.999981	D;D	0.69078	0.979;0.997	P;D	0.67900	0.81;0.954	T	0.41840	-0.9486	10	0.51188	T	0.08	-13.8671	18.5566	0.91088	0.0:1.0:0.0:0.0	.	234;366	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	I	366;234	ENSP00000369465:T366I;ENSP00000381222:T234I	ENSP00000369465:T366I	T	+	2	0	TXLNG	16765674	0.999000	0.42202	0.997000	0.53966	0.988000	0.76386	3.366000	0.52343	2.411000	0.81874	0.436000	0.28706	ACT		0.313	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		37	142	0	0	0	1	0	37	142				
ZNF521	25925	broad.mit.edu	37	18	22806342	22806342	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806342A>C	ENST00000361524.3	-	4	1688	c.1540T>G	c.(1540-1542)Ttt>Gtt	p.F514V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V|ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	514					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGGGACAAAAGAATGCATTA	0.463			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1540-1542)Ttt>Gtt		zinc finger protein 521							80.0	83.0	82.0					18																	22806342		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806342A>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1540T>G	18.37:g.22806342A>C	ENSP00000354794:p.Phe514Val					ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V|ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V	p.F514V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1688	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		514					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1540T>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359577	0.24598	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.26660	1.72;1.72	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.34521	1.04	0.45108	D	0.998123	D	0.89917	1.0	D	0.91635	0.999	T	0.09228	-1.0684	10	0.30854	T	0.27	-22.3299	16.2847	0.82712	1.0:0.0:0.0:0.0	.	514	Q96K83	ZN521_HUMAN	V	514;548;514	ENSP00000354794:F514V;ENSP00000382352:F514V	ENSP00000354794:F514V	F	-	1	0	ZNF521	21060340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.242000	0.73789	0.528000	0.53228	TTT		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		71	294	0	0	0	1	0	71	294				
CLCA2	9635	broad.mit.edu	37	1	86909588	86909588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86909588C>A	ENST00000370565.4	+	10	1769	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	536					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGTGGTCCTCCTGAGATTATA	0.393																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(1606-1608)cCt>cAt		chloride channel accessory 2							139.0	130.0	133.0					1																	86909588		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86909588C>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1607C>A	1.37:g.86909588C>A	ENSP00000359596:p.Pro536His						p.P536H	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	10	1769	+		Lung NSC(277;0.238)	536					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.1607C>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922572	0.52653	.	.	ENSG00000137975	ENST00000370565	T	0.61742	0.08	5.66	4.74	0.60224	Domain of unknown function DUF1973 (1);	0.060811	0.64402	D	0.000003	T	0.71492	0.3346	M	0.86805	2.84	0.42859	D	0.994109	D	0.89917	1.0	D	0.77557	0.99	T	0.73924	-0.3829	10	0.29301	T	0.29	-10.2944	15.6306	0.76906	0.1386:0.8614:0.0:0.0	.	536	Q9UQC9	CLCA2_HUMAN	H	536	ENSP00000359596:P536H	ENSP00000359596:P536H	P	+	2	0	CLCA2	86682176	1.000000	0.71417	0.961000	0.40146	0.265000	0.26407	3.317000	0.51968	1.382000	0.46385	0.650000	0.86243	CCT		0.393	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		126	397	1	0	8.72215e-35	1	1.03874e-34	126	397				
CELSR1	9620	broad.mit.edu	37	22	46787161	46787161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46787161C>T	ENST00000262738.3	-	16	6171	c.6172G>A	c.(6172-6174)Gca>Aca	p.A2058T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2058					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCTCAAATGCTTTGGGACAG	0.607											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(6172-6174)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 1							51.0	49.0	50.0					22																	46787161		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46787161C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6172G>A	22.37:g.46787161C>T	ENSP00000262738:p.Ala2058Thr		OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941		p.A2058T	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	16	6171	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2058					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.6172G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384062	0.61845	.	.	ENSG00000075275	ENST00000262738	T	0.68479	-0.33	4.03	4.03	0.46877	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	U	0.000002	T	0.72859	0.3513	L	0.35593	1.075	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.79108	0.992;0.585	T	0.73316	-0.4021	10	0.38643	T	0.18	.	16.1498	0.81605	0.0:1.0:0.0:0.0	.	379;2058	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	T	2058	ENSP00000262738:A2058T	ENSP00000262738:A2058T	A	-	1	0	CELSR1	45165825	0.998000	0.40836	0.604000	0.28916	0.179000	0.23085	3.466000	0.53071	1.964000	0.57103	0.462000	0.41574	GCA		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		41	170	0	0	0	1	0	41	170				
FSCN3	29999	broad.mit.edu	37	7	127238595	127238595	+	Missense_Mutation	SNP	G	G	A	rs144391719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127238595G>A	ENST00000265825.5	+	4	1286	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	356						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGCAGGGGGCGCTTCCTGGGC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		16483	0.0		0.001	False		,,,				2504	0.0					ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1066-1068)cGc>cAc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	109.0	111.0		1067	5.9	1.0	7	dbSNP_134	111	0,8600		0,0,4300	yes	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	356/499	127238595	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127238595G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1067G>A	7.37:g.127238595G>A	ENSP00000265825:p.Arg356His					FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	p.R356H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			4	1286	+			356					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.1067G>A	CCDS34746.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.53	2.861201	0.51482	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.51574	1.39;0.7	5.94	5.94	0.96194	Fascin domain (1);Actin cross-linking (1);	0.000000	0.64402	D	0.000006	T	0.60051	0.2239	L	0.38531	1.155	0.38031	D	0.935151	B;D	0.89917	0.101;1.0	B;D	0.75484	0.026;0.986	T	0.63242	-0.6681	10	0.66056	D	0.02	-17.9026	15.8634	0.79043	0.0:0.0:1.0:0.0	.	222;356	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	356;222	ENSP00000265825:R356H;ENSP00000412243:R222H	ENSP00000265825:R356H	R	+	2	0	FSCN3	127025831	1.000000	0.71417	0.980000	0.43619	0.254000	0.26022	5.008000	0.63991	2.826000	0.97356	0.561000	0.74099	CGC		0.582	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		139	655	0	0	0	1	0	139	655				
MCM6	4175	broad.mit.edu	37	2	136602208	136602208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602208G>T	ENST00000264156.2	-	16	2316	c.2256C>A	c.(2254-2256)taC>taA	p.Y752*	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	752					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTTCCTTCAAGTACCAGTTAA	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(2254-2256)taC>taA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						152.0	145.0	147.0					2																	136602208		2203	4300	6503	SO:0001587	stop_gained	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136602208G>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2256C>A	2.37:g.136602208G>T	ENSP00000264156:p.Tyr752*					MCM6_ENST00000492091.1_5'UTR	p.Y752*	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	16	2316	-			752					B2R6H2|Q13504|Q99859	Nonsense_Mutation	SNP	ENST00000264156.2	37	c.2256C>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611460	0.96637	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.86	4.06	0.47325	.	0.111455	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1339	8.1078	0.30896	0.2921:0.0:0.7079:0.0	.	.	.	.	X	752	.	ENSP00000264156:Y752X	Y	-	3	2	MCM6	136318678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.176000	0.42500	1.488000	0.48433	0.650000	0.86243	TAC		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		40	435	1	0	2.26627e-22	1	2.56399e-22	40	435				
DGKE	8526	broad.mit.edu	37	17	54925319	54925319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54925319C>T	ENST00000284061.3	+	5	961	c.781C>T	c.(781-783)Cta>Tta	p.L261L		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	261	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TATCAAAGCCCTACAACTCTG	0.383																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(781-783)Cta>Tta		diacylglycerol kinase, epsilon 64kDa							102.0	103.0	103.0					17																	54925319		2203	4300	6503	SO:0001819	synonymous_variant	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54925319C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.781C>T	17.37:g.54925319C>T							p.L261L	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			5	961	+	Breast(9;3.59e-07)		261			DAGKc.		Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	37	c.781C>T	CCDS11590.1																																																																																				0.383	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		25	430	0	0	0	1	0	25	430				
MBD3L1	85509	broad.mit.edu	37	19	8953519	8953519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8953519G>T	ENST00000595891.1	+	3	396	c.165G>T	c.(163-165)tgG>tgT	p.W55C	MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	55	Transcription repressor.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						ACCATCAATGGGAGGAGAGCT	0.512																																						ENST00000595891.1																			0				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						c.(163-165)tgG>tgT		methyl-CpG binding domain protein 3-like 1							101.0	93.0	96.0					19																	8953519		2203	4300	6503	SO:0001583	missense	85509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:8953519G>T	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.165G>T	19.37:g.8953519G>T	ENSP00000471575:p.Trp55Cys					MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C	p.W55C			Q8WWY6	MB3L1_HUMAN			3	396	+			55			Transcription repressor.		B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	c.165G>T	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387116	0.42308	.	.	ENSG00000170948	ENST00000305625	T	0.42900	0.96	3.92	3.92	0.45320	.	0.000000	0.30850	N	0.008744	T	0.56352	0.1979	M	0.65975	2.015	0.48341	D	0.999633	D	0.76494	0.999	P	0.61800	0.894	T	0.58399	-0.7643	10	0.54805	T	0.06	-13.1406	11.7393	0.51784	0.0:0.0:1.0:0.0	.	55	Q8WWY6	MB3L1_HUMAN	C	55	ENSP00000304198:W55C	ENSP00000304198:W55C	W	+	3	0	MBD3L1	8814519	1.000000	0.71417	0.958000	0.39756	0.543000	0.35085	3.640000	0.54350	2.459000	0.83118	0.655000	0.94253	TGG		0.512	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		69	313	1	0	2.23399e-28	1	2.59905e-28	69	313				
SMG1	23049	broad.mit.edu	37	16	18823443	18823443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18823443C>T	ENST00000446231.2	-	61	11040	c.10628G>A	c.(10627-10629)cGg>cAg	p.R3543Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3543					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGTTACTCCGGACTGCTAC	0.473																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10627-10629)cGg>cAg		SMG1 phosphatidylinositol 3-kinase-related kinase							96.0	87.0	90.0					16																	18823443		1976	4164	6140	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823443C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10628G>A	16.37:g.18823443C>T	ENSP00000402515:p.Arg3543Gln					SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q|RP11-1035H13.2_ENST00000569096.1_RNA	p.R3543Q			Q96Q15	SMG1_HUMAN			61	11040	-			3543					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10628G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943109	0.73672	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01265	5.08;5.08	5.87	5.87	0.94306	.	0.094431	0.46758	D	0.000266	T	0.01730	0.0055	L	0.29908	0.895	0.34855	D	0.742045	P	0.49253	0.921	B	0.37780	0.258	T	0.68059	-0.5509	10	0.27082	T	0.32	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	3543	Q96Q15	SMG1_HUMAN	Q	3543;3544	ENSP00000402515:R3543Q;ENSP00000374118:R3544Q	ENSP00000374118:R3544Q	R	-	2	0	SMG1	18730944	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.481000	0.60250	2.941000	0.99782	0.655000	0.94253	CGG		0.473	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		47	229	0	0	0	1	0	47	229				
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286			P -> H (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCAGCATCAGGAAACTTGAG	0.493								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			1	Substitution - Missense(1)	p.P286H(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(856-858)cCt>cGt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							115.0	99.0	104.0					12																	133253184		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133253184G>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.857C>G	12.37:g.133253184G>C	ENSP00000322570:p.Pro286Arg					POLE_ENST00000535270.1_Missense_Mutation_p.P259R	p.P286R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	9	900	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	286					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.857C>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974541	0.92919	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	R	286;297;259;66;221	ENSP00000322570:P286R;ENSP00000406383:P297R;ENSP00000445753:P259R;ENSP00000442519:P66R	ENSP00000322570:P286R	P	-	2	0	POLE	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		38	202	0	0	0	1	0	38	202				
EPHA5	2044	broad.mit.edu	37	4	66361172	66361172	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66361172T>A	ENST00000273854.3	-	4	1600	c.1000A>T	c.(1000-1002)Acc>Tcc	p.T334S	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S|EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	334	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACACAAGAGGTTGAAGCTTCC	0.478										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1000-1002)Acc>Tcc		EPH receptor A5							167.0	163.0	164.0					4																	66361172		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361172T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1000A>T	4.37:g.66361172T>A	ENSP00000273854:p.Thr334Ser	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S	p.T334S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			4	1600	-			334			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1000A>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018682	0.35606	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97378	1.64;1.64;-4.36	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000036	D	0.95095	0.8411	L	0.33668	1.02	0.29807	N	0.831938	B;B;P;B	0.35507	0.373;0.024;0.506;0.021	B;B;B;B	0.43123	0.232;0.016;0.409;0.012	D	0.90807	0.4698	10	0.15066	T	0.55	.	16.2231	0.82269	0.0:0.0:0.0:1.0	.	334;334;334;334	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	334	ENSP00000273854:T334S;ENSP00000346899:T334S;ENSP00000427638:T334S	ENSP00000273854:T334S	T	-	1	0	EPHA5	66043767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.137000	0.50562	2.235000	0.73313	0.377000	0.23210	ACC		0.478	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		122	554	0	0	0	1	0	122	554				
OR14C36	127066	broad.mit.edu	37	1	248512485	248512485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248512485C>T	ENST00000317861.1	+	1	409	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CGTGAACTCTCGAATCTGCAT	0.507																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(409-411)Cga>Tga		olfactory receptor, family 14, subfamily C, member 36							99.0	86.0	91.0					1																	248512485		2203	4300	6503	SO:0001587	stop_gained	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512485C>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.409C>T	1.37:g.248512485C>T	ENSP00000324534:p.Arg137*						p.R137*	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	409	+			137					Q6IEZ6	Nonsense_Mutation	SNP	ENST00000317861.1	37	c.409C>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430346	0.62844	.	.	ENSG00000177174	ENST00000317861	.	.	.	4.05	1.93	0.25924	.	1.246200	0.06113	N	0.667560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2541	0.49043	0.4719:0.5281:0.0:0.0	.	.	.	.	X	137	.	ENSP00000324534:R137X	R	+	1	2	OR14C36	246579108	0.000000	0.05858	0.001000	0.08648	0.715000	0.41141	-0.209000	0.09358	0.879000	0.35944	0.395000	0.25975	CGA		0.507	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		81	253	0	0	0	1	0	81	253				
KDM1B	221656	broad.mit.edu	37	6	18215253	18215253	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215253C>A	ENST00000297792.5	+	16	1606	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M	KDM1B_ENST00000546309.2_5'UTR|KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M|KDM1B_ENST00000388870.2_Missense_Mutation_p.L710M			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	709					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCACAGCGTGCTGATGTCTGT	0.527																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2128-2130)Ctg>Atg		lysine (K)-specific demethylase 1B							78.0	74.0	75.0					6																	18215253		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18215253C>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1429C>A	6.37:g.18215253C>A	ENSP00000297792:p.Leu477Met					KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M|KDM1B_ENST00000546309.2_5'UTR|KDM1B_ENST00000297792.5_Missense_Mutation_p.L477M	p.L710M			Q8NB78	KDM1B_HUMAN			20	2369	+			709					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.2128C>A	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.189827|3.189827	0.57909|0.57909	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000449850|ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	.|D;D;D	.|0.95788	.|-3.81;-3.81;-3.81	5.99|5.99	-7.43|-7.43	0.01383|0.01383	.|Amine oxidase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|D	.|0.97586	.|0.9209	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.991	.|D	.|0.97776	.|1.0229	.|10	.|0.72032	.|D	.|0.01	-15.261|-15.261	18.1844|18.1844	0.89788|0.89788	0.0:0.2132:0.0:0.7868|0.0:0.2132:0.0:0.7868	.|.	.|526;709;477	.|A2A2C4;Q8NB78;A2A2C6	.|.;KDM1B_HUMAN;.	X|M	526|710;478;477;707	.|ENSP00000373522:L710M;ENSP00000380419:L478M;ENSP00000297792:L477M	.|ENSP00000297792:L477M	C|L	+|+	3|1	2|2	KDM1B|KDM1B	18323232|18323232	0.968000|0.968000	0.33430|0.33430	0.539000|0.539000	0.28077|0.28077	0.688000|0.688000	0.40055|0.40055	0.250000|0.250000	0.18235|0.18235	-1.606000|-1.606000	0.01591|0.01591	-0.806000|-0.806000	0.03193|0.03193	TGC|CTG		0.527	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		53	255	1	0	6.3237e-29	1	7.37716e-29	53	255				
BTBD11	121551	broad.mit.edu	37	12	107937887	107937887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937887G>A	ENST00000280758.5	+	3	1989	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	BTBD11_ENST00000490090.2_Silent_p.E487E|BTBD11_ENST00000420571.2_Silent_p.E487E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	487						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCAACGTGGAGCCTTCCAAAG	0.572																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1459-1461)gaG>gaA		BTB (POZ) domain containing 11							56.0	51.0	53.0					12																	107937887		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:107937887G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1461G>A	12.37:g.107937887G>A						BTBD11_ENST00000420571.2_Silent_p.E487E|BTBD11_ENST00000490090.2_Silent_p.E487E	p.E487E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	1989	+			487					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.1461G>A	CCDS31893.1																																																																																				0.572	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		44	197	0	0	0	1	0	44	197				
UNC5C	8633	broad.mit.edu	37	4	96163682	96163682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163682G>A	ENST00000453304.1	-	7	1354	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	UNC5C_ENST00000506749.1_Missense_Mutation_p.R336C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	336	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCCTCCTGCGCCAGTGGGTG	0.587																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1006-1008)Cgc>Tgc		unc-5 homolog C (C. elegans)							41.0	34.0	36.0					4																	96163682		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163682G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1006C>T	4.37:g.96163682G>A	ENSP00000406022:p.Arg336Cys					UNC5C_ENST00000506749.1_Missense_Mutation_p.R336C	p.R336C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1354	-		Hepatocellular(203;0.114)	336			TSP type-1 2.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1006C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345295	0.82022	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.78924	-1.22;-1.22;-1.22	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.99475	4.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.96276	0.9202	10	0.87932	D	0	.	19.0716	0.93140	0.0:0.0:1.0:0.0	.	336;336;336	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	C	336;295;336;336	ENSP00000406022:R336C;ENSP00000426924:R336C;ENSP00000426153:R336C	ENSP00000328673:R295C	R	-	1	0	UNC5C	96382705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.750000	0.68712	2.805000	0.96524	0.655000	0.94253	CGC		0.587	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		13	83	0	0	0	1	0	13	83				
CAD	790	broad.mit.edu	37	2	27464907	27464907	+	Silent	SNP	C	C	T	rs61737366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464907C>T	ENST00000403525.1	+	38	5967	c.5823C>T	c.(5821-5823)ggC>ggT	p.G1941G	CAD_ENST00000264705.4_Silent_p.G2004G			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGAAGGGCGAATCCCTGG	0.652																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(6010-6012)ggC>ggT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						50.0	45.0	47.0					2																	27464907		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27464907C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5823C>T	2.37:g.27464907C>T						CAD_ENST00000403525.1_Silent_p.G1941G	p.G2004G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			39	6174	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2004			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.6012C>T		.	.	.	.	.	.	.	.	.	.	C	8.492	0.862142	0.17178	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.2	-6.68	0.01778	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41556	-0.9502	4	.	.	.	-9.1727	3.1304	0.06421	0.1408:0.3731:0.0805:0.4056	rs61737366	.	.	.	V	40	.	.	A	+	2	0	CAD	27318411	0.008000	0.16893	0.454000	0.27019	0.797000	0.45037	-1.082000	0.03400	-1.083000	0.03097	-0.424000	0.05967	GCG		0.652	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			88	266	0	0	0	1	0	88	266				
NLRC4	58484	broad.mit.edu	37	2	32476650	32476650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476650C>T	ENST00000404025.2	-	5	771	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	95	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGTCTCCTTCTGATGTCTGA	0.408																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(283-285)Gaa>Aaa		NLR family, CARD domain containing 4							53.0	56.0	55.0					2																	32476650		2195	4296	6491	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476650C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.283G>A	2.37:g.32476650C>T	ENSP00000385090:p.Glu95Lys					NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K|NLRC4_ENST00000342905.6_Intron	p.E95K			Q9NPP4	NLRC4_HUMAN			5	771	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		95					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.283G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564640	0.45694	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.55052	0.54;0.54;0.54	3.46	2.56	0.30785	.	0.119241	0.33572	N	0.004778	T	0.35624	0.0938	L	0.29908	0.895	0.32029	N	0.599757	P	0.40000	0.698	B	0.32724	0.151	T	0.53337	-0.8453	9	0.66056	D	0.02	-5.2439	11.191	0.48685	0.1858:0.8142:0.0:0.0	.	95	Q9NPP4	NLRC4_HUMAN	K	95	ENSP00000354159:E95K;ENSP00000385428:E95K;ENSP00000385090:E95K	ENSP00000354159:E95K	E	-	1	0	NLRC4	32330154	0.070000	0.21116	0.080000	0.20451	0.123000	0.20343	0.143000	0.16115	0.772000	0.33382	0.543000	0.68304	GAA		0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		20	487	0	0	0	1	0	20	487				
SLC25A4	291	broad.mit.edu	37	4	186067969	186067969	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186067969C>T	ENST00000281456.6	+	4	873	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	247					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473																																						ENST00000281456.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.e4-1		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	Adenosine triphosphate(DB00171)|Clodronate(DB00720)						88.0	80.0	83.0					4																	186067969		2203	4300	6503	SO:0001630	splice_region_variant	291				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding	g.chr4:186067969C>T	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.740-1C>T	4.37:g.186067969C>T							p.A247_splice	NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	4	873	+		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	247					D3DP59	Splice_Site	SNP	ENST00000281456.6	37	c.739_splice	CCDS34114.1																																																																																				0.473	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151	Silent	21	190	0	0	0	1	0	21	190				
COG1	9382	broad.mit.edu	37	17	71196797	71196797	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71196797A>T	ENST00000299886.4	+	6	1243	c.1163A>T	c.(1162-1164)gAg>gTg	p.E388V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	388					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCATGTGGGAGTTACTTACC	0.507																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1162-1164)gAg>gTg		component of oligomeric golgi complex 1							111.0	103.0	106.0					17																	71196797		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71196797A>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1163A>T	17.37:g.71196797A>T	ENSP00000299886:p.Glu388Val						p.E388V	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		6	1243	+			388					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1163A>T	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969484	0.34754	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.25749	1.78;1.78	5.53	3.26	0.37387	.	0.454480	0.26424	N	0.024450	T	0.31040	0.0784	M	0.65975	2.015	0.52501	D	0.999954	P;P;P	0.49253	0.921;0.756;0.921	P;B;P	0.47744	0.556;0.372;0.556	T	0.02450	-1.1157	10	0.34782	T	0.22	-5.8888	8.2047	0.31446	0.7958:0.1345:0.0696:0.0	.	388;388;388	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	V	388	ENSP00000400111:E388V;ENSP00000299886:E388V	ENSP00000299886:E388V	E	+	2	0	COG1	68708392	1.000000	0.71417	0.446000	0.26920	0.759000	0.43091	4.832000	0.62759	0.369000	0.24510	0.460000	0.39030	GAG		0.507	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			111	372	0	0	0	1	0	111	372				
SPATA31E1	286234	broad.mit.edu	37	9	90499930	90499930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90499930G>A	ENST00000325643.5	+	4	594	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	176	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCACCAGCCGCATGGGAAAT	0.637																																						ENST00000325643.5																			0											c.(526-528)ccG>ccA		SPATA31 subfamily E, member 1							66.0	69.0	68.0					9																	90499930		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90499930G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.528G>A	9.37:g.90499930G>A							p.P176P	NM_178828.4	NP_849150.3					4	594	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.528G>A	CCDS6676.1																																																																																				0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		114	383	0	0	0	1	0	114	383				
RHBG	57127	broad.mit.edu	37	1	156347099	156347099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156347099G>T	ENST00000368249.1	+	2	233	c.195G>T	c.(193-195)caG>caT	p.Q65H	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	65					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGGCTTCCAGGACGTGCATG	0.637																																						ENST00000368249.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(193-195)caG>caT		Rh family, B glycoprotein (gene/pseudogene)							119.0	121.0	120.0					1																	156347099		2202	4300	6502	SO:0001583	missense	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156347099G>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.195G>T	1.37:g.156347099G>T	ENSP00000357232:p.Gln65His					RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000255013.3_5'UTR	p.Q65H	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN			2	233	+	Hepatocellular(266;0.158)		65					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37	c.195G>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469821	0.84533	.	.	ENSG00000132677	ENST00000368249;ENST00000368246	T;T	0.25085	1.82;1.82	4.86	3.87	0.44632	Ammonium transporter AmtB-like (3);	0.055699	0.64402	D	0.000001	T	0.48589	0.1508	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.983;0.984	T	0.57207	-0.7851	10	0.87932	D	0	-25.444	8.2552	0.31751	0.1884:0.0:0.8116:0.0	.	65;102	Q9H310;Q5SZW5	RHBG_HUMAN;.	H	65	ENSP00000357232:Q65H;ENSP00000357229:Q65H	ENSP00000357229:Q65H	Q	+	3	2	RHBG	154613723	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.552000	0.60747	2.512000	0.84698	0.561000	0.74099	CAG		0.637	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		195	678	1	0	1.92489e-79	1	2.46029e-79	195	678				
ESF1	51575	broad.mit.edu	37	20	13695780	13695780	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13695780T>G	ENST00000202816.1	-	14	2404	c.2297A>C	c.(2296-2298)tAc>tCc	p.Y766S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	766	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTGGGAAGTGTACATTGCCTG	0.363																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2296-2298)tAc>tCc		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							96.0	99.0	98.0					20																	13695780		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13695780T>G		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2297A>C	20.37:g.13695780T>G	ENSP00000202816:p.Tyr766Ser						p.Y766S	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			14	2404	-			766			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.2297A>C	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696584	0.68386	.	.	ENSG00000089048	ENST00000202816	T	0.27557	1.66	6.05	6.05	0.98169	NUC153 (1);	0.074024	0.56097	D	0.000028	T	0.57460	0.2055	M	0.82823	2.61	0.44736	D	0.99773	D	0.76494	0.999	D	0.75020	0.985	T	0.63129	-0.6706	10	0.72032	D	0.01	0.2465	12.2619	0.54655	0.1341:0.0:0.0:0.8659	.	766	Q9H501	ESF1_HUMAN	S	766	ENSP00000202816:Y766S	ENSP00000202816:Y766S	Y	-	2	0	ESF1	13643780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.297000	0.65704	2.320000	0.78422	0.528000	0.53228	TAC		0.363	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		101	378	0	0	0	1	0	101	378				
SLC13A4	26266	broad.mit.edu	37	7	135376316	135376316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135376316C>T	ENST00000354042.4	-	12	1987	c.1298G>A	c.(1297-1299)tGc>tAc	p.C433Y	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	433					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTTCCCAAAGCAGGGCTTCTT	0.458																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1297-1299)tGc>tAc		solute carrier family 13 (sodium/sulfate symporter), member 4							76.0	74.0	75.0					7																	135376316		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135376316C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1298G>A	7.37:g.135376316C>T	ENSP00000297282:p.Cys433Tyr					C7orf73_ENST00000422968.1_Intron	p.C433Y	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			12	1987	-			433					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1298G>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073514	0.55646	.	.	ENSG00000164707	ENST00000354042	T	0.69040	-0.37	5.69	4.8	0.61643	.	0.065014	0.64402	D	0.000004	T	0.54303	0.1850	L	0.27053	0.805	0.49051	D	0.999741	P;P	0.46395	0.877;0.714	P;B	0.45232	0.474;0.34	T	0.52193	-0.8608	10	0.07175	T	0.84	-19.8065	14.4043	0.67071	0.0:0.8512:0.1488:0.0	.	302;433	Q59HF0;Q9UKG4	.;S13A4_HUMAN	Y	433	ENSP00000297282:C433Y	ENSP00000297282:C433Y	C	-	2	0	SLC13A4	135026856	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.887000	0.56197	1.382000	0.46385	0.655000	0.94253	TGC		0.458	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		35	169	0	0	0	1	0	35	169				
CHD7	55636	broad.mit.edu	37	8	61734637	61734637	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61734637A>C	ENST00000423902.2	+	11	3369	c.2890A>C	c.(2890-2892)Aac>Cac	p.N964H	CHD7_ENST00000525508.1_Missense_Mutation_p.N964H|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	964					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGTATAAAAACAATAACAA	0.378																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(2890-2892)Aac>Cac		chromodomain helicase DNA binding protein 7							68.0	66.0	67.0					8																	61734637		1828	4080	5908	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61734637A>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2890A>C	8.37:g.61734637A>C	ENSP00000392028:p.Asn964His					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.N964H	p.N964H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		11	3369	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	964					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2890A>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671091	0.88348	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93366	-3.21;-3.21	5.52	5.52	0.82312	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.70595	2.14	0.80722	D	1	P;B	0.40050	0.7;0.103	P;B	0.48627	0.584;0.094	D	0.95226	0.8338	10	0.87932	D	0	-24.6046	15.9347	0.79694	1.0:0.0:0.0:0.0	.	964;964	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	H	964	ENSP00000392028:N964H;ENSP00000436027:N964H	ENSP00000307304:N964H	N	+	1	0	CHD7	61897191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.221000	0.72209	0.528000	0.53228	AAC		0.378	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		21	200	0	0	0	1	0	21	200				
RAB10	10890	broad.mit.edu	37	2	26350742	26350742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26350742G>A	ENST00000264710.4	+	5	940	c.441G>A	c.(439-441)agG>agA	p.R147R	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	147					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGTATTAGGTTTTTTGAGA	0.348																																						ENST00000264710.4																			0				lung(2)|ovary(1)	3						c.(439-441)agG>agA		RAB10, member RAS oncogene family							168.0	161.0	164.0					2																	26350742		2203	4300	6503	SO:0001819	synonymous_variant	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26350742G>A	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.441G>A	2.37:g.26350742G>A						RAB10_ENST00000462003.1_3'UTR	p.R147R	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN			5	940	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		147					D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Silent	SNP	ENST00000264710.4	37	c.441G>A	CCDS1720.1																																																																																				0.348	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		11	499	0	0	0	1	0	11	499				
OR51V1	283111	broad.mit.edu	37	11	5221811	5221811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221811G>T	ENST00000321255.1	-	1	119	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	40					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATTGAGGAGAAGGGGATGG	0.483																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(118-120)ttC>ttA		olfactory receptor, family 51, subfamily V, member 1							121.0	112.0	115.0					11																	5221811		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221811G>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.120C>A	11.37:g.5221811G>T	ENSP00000321729:p.Phe40Leu						p.F40L	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	119	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	40						Missense_Mutation	SNP	ENST00000321255.1	37	c.120C>A	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770548	0.15983	.	.	ENSG00000176742	ENST00000321255	T	0.00566	6.55	5.16	1.21	0.21127	.	0.169863	0.28187	U	0.016269	T	0.00468	0.0015	L	0.52573	1.65	0.23972	N	0.996304	B	0.16802	0.019	B	0.20384	0.029	T	0.46428	-0.9192	10	0.19147	T	0.46	.	4.9654	0.14087	0.4101:0.1459:0.4439:0.0	.	40	Q9H2C8	O51V1_HUMAN	L	40	ENSP00000321729:F40L	ENSP00000321729:F40L	F	-	3	2	OR51V1	5178387	0.001000	0.12720	0.597000	0.28824	0.389000	0.30415	-0.311000	0.08124	0.068000	0.16574	0.650000	0.86243	TTC		0.483	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		80	332	1	0	8.2577e-42	1	1.00413e-41	80	332				
SRCAP	10847	broad.mit.edu	37	16	30740437	30740437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30740437G>A	ENST00000262518.4	+	26	6194	c.5809G>A	c.(5809-5811)Ggc>Agc	p.G1937S	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1875S|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1779S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1937					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCCCATCGGCCCTCGTTC	0.597																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5809-5811)Ggc>Agc		Snf2-related CREBBP activator protein							54.0	55.0	55.0					16																	30740437		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30740437G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5809G>A	16.37:g.30740437G>A	ENSP00000262518:p.Gly1937Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.G1875S|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1779S	p.G1937S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		26	6194	+			1937					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.5809G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496274	0.44352	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91180	-2.77;-2.8;-2.78	5.4	4.45	0.53987	.	0.000000	0.56097	D	0.000035	T	0.75708	0.3886	N	0.03608	-0.345	0.36061	D	0.841433	P;B	0.39443	0.674;0.32	B;B	0.32677	0.15;0.072	T	0.80770	-0.1234	10	0.36615	T	0.2	-1.5968	11.2141	0.48817	0.0851:0.0:0.9149:0.0	.	1875;1937	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	1937;1875;1779	ENSP00000262518:G1937S;ENSP00000378499:G1875S;ENSP00000343042:G1779S	ENSP00000262518:G1937S	G	+	1	0	SRCAP	30647938	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.899000	0.48679	1.525000	0.49052	0.591000	0.81541	GGC		0.597	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		11	373	0	0	0	1	0	11	373				
PPP1R3A	5506	broad.mit.edu	37	7	113519685	113519685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519685C>A	ENST00000284601.3	-	4	1530	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	488					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATGGAAATCTCTTCGTAAA	0.363																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1462-1464)Gat>Tat		protein phosphatase 1, regulatory subunit 3A							63.0	60.0	61.0					7																	113519685		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519685C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1462G>T	7.37:g.113519685C>A	ENSP00000284601:p.Asp488Tyr						p.D488Y	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1530	-			488					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1462G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477870	0.26511	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.48836	1.96;0.8	5.24	4.33	0.51752	.	0.721310	0.12943	N	0.426442	T	0.65439	0.2691	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.55283	-0.8165	10	0.87932	D	0	-2.0215	10.4417	0.44469	0.0:0.9061:0.0:0.0939	.	488	Q16821	PPR3A_HUMAN	Y	488;167	ENSP00000284601:D488Y;ENSP00000401278:D167Y	ENSP00000284601:D488Y	D	-	1	0	PPP1R3A	113306921	0.014000	0.17966	0.154000	0.22540	0.016000	0.09150	1.226000	0.32563	1.144000	0.42321	0.561000	0.74099	GAT		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		40	217	1	0	5.59293e-11	1	5.94944e-11	40	217				
HHIP	64399	broad.mit.edu	37	4	145633201	145633201	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145633201G>T	ENST00000296575.3	+	8	2056	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	467					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAATTCTACAGATAATAAAGG	0.338																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1399-1401)caG>caT		hedgehog interacting protein							124.0	124.0	124.0					4																	145633201		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145633201G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1401G>T	4.37:g.145633201G>T	ENSP00000296575:p.Gln467His						p.Q467H	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	8	2056	+	all_hematologic(180;0.151)		467					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1401G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460855	0.26248	.	.	ENSG00000164161	ENST00000296575	T	0.05786	3.39	5.74	3.08	0.35506	Six-bladed beta-propeller, TolB-like (1);	0.051730	0.85682	D	0.000000	T	0.05960	0.0155	L	0.51422	1.61	0.80722	D	1	P	0.38788	0.647	B	0.34452	0.183	T	0.41142	-0.9525	10	0.36615	T	0.2	-10.7005	7.1988	0.25868	0.1943:0.0:0.6819:0.1238	.	467	Q96QV1	HHIP_HUMAN	H	467	ENSP00000296575:Q467H	ENSP00000296575:Q467H	Q	+	3	2	HHIP	145852651	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.660000	0.46749	0.769000	0.33313	0.655000	0.94253	CAG		0.338	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			101	460	1	0	3.95083e-50	1	4.8935e-50	101	460				
KLHL36	79786	broad.mit.edu	37	16	84690700	84690700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84690700G>A	ENST00000564996.1	+	3	428	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTACATTGGGCTCAAGGCC	0.607																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(286-288)gGg>gAg		kelch-like family member 36							81.0	73.0	76.0					16																	84690700		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84690700G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.287G>A	16.37:g.84690700G>A	ENSP00000456743:p.Gly96Glu					KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	p.G96E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	428	+			96			BTB.		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.287G>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922463	0.52653	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.65732	-0.17	5.7	4.73	0.59995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046923	0.85682	D	0.000000	T	0.76877	0.4049	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79671	-0.1706	10	0.72032	D	0.01	.	15.805	0.78491	0.0:0.1363:0.8637:0.0	.	96;96	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	E	96	ENSP00000258157:G96E	ENSP00000258157:G96E	G	+	2	0	KLHL36	83248201	1.000000	0.71417	0.965000	0.40720	0.202000	0.24057	9.664000	0.98607	1.380000	0.46344	-0.176000	0.13171	GGG		0.607	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			94	282	0	0	0	1	0	94	282				
FAT2	2196	broad.mit.edu	37	5	150925264	150925264	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925264C>A	ENST00000261800.5	-	9	5436	c.5424G>T	c.(5422-5424)gaG>gaT	p.E1808D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1808	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTCAAGGCCTCCGGCTCCA	0.413																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(5422-5424)gaG>gaT		FAT atypical cadherin 2							54.0	56.0	55.0					5																	150925264		2202	4300	6502	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925264C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5424G>T	5.37:g.150925264C>A	ENSP00000261800:p.Glu1808Asp						p.E1808D	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5436	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1808			Cadherin 16.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5424G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492075	0.26774	.	.	ENSG00000086570	ENST00000261800	T	0.59083	0.29	5.25	0.888	0.19206	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.58090	0.2098	L	0.33624	1.015	0.33432	D	0.581211	D	0.76494	0.999	D	0.72075	0.976	T	0.60469	-0.7257	10	0.11485	T	0.65	.	11.0364	0.47804	0.0:0.5115:0.0:0.4885	.	1808	Q9NYQ8	FAT2_HUMAN	D	1808	ENSP00000261800:E1808D	ENSP00000261800:E1808D	E	-	3	2	FAT2	150905457	0.922000	0.31269	0.215000	0.23724	0.968000	0.65278	0.106000	0.15354	-0.076000	0.12775	0.467000	0.42956	GAG		0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		114	395	1	0	3.10586e-51	1	3.85317e-51	114	395				
ZKSCAN5	23660	broad.mit.edu	37	7	99103950	99103950	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99103950C>T	ENST00000394170.2	+	2	534	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ZKSCAN5_ENST00000326775.5_Silent_p.L95L|ZKSCAN5_ENST00000451158.1_Silent_p.L95L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	95	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTGCTGGTGCTGGAGCAGTT	0.597																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(283-285)Ctg>Ttg		zinc finger with KRAB and SCAN domains 5							79.0	80.0	79.0					7																	99103950		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99103950C>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.283C>T	7.37:g.99103950C>T						ZKSCAN5_ENST00000326775.5_Silent_p.L95L|ZKSCAN5_ENST00000451158.1_Silent_p.L95L	p.L95L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			2	534	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		95			SCAN box.		A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.283C>T	CCDS5667.1																																																																																				0.597	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		99	440	0	0	0	1	0	99	440				
BMS1	9790	broad.mit.edu	37	10	43315745	43315745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43315745G>A	ENST00000374518.5	+	16	2705	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	881					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGGGTTTTCGACCTGGGATG	0.448																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2641-2643)cGa>cAa		BMS1 ribosome biogenesis factor							124.0	121.0	122.0					10																	43315745		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43315745G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2642G>A	10.37:g.43315745G>A	ENSP00000363642:p.Arg881Gln						p.R881Q	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			16	2705	+			881					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2642G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201816	0.94997	.	.	ENSG00000165733	ENST00000374518	T	0.17054	2.3	5.05	5.05	0.67936	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.44871	0.1314	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.35375	-0.9791	10	0.38643	T	0.18	.	18.4608	0.90737	0.0:0.0:1.0:0.0	.	881	Q14692	BMS1_HUMAN	Q	881	ENSP00000363642:R881Q	ENSP00000363642:R881Q	R	+	2	0	BMS1	42635751	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.609000	0.98334	2.352000	0.79861	0.454000	0.30748	CGA		0.448	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		144	604	0	0	0	1	0	144	604				
ARHGAP39	80728	broad.mit.edu	37	8	145757761	145757761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145757761C>T	ENST00000276826.5	-	8	3016	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	939	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCATTCACCTCGTCAATGTCC	0.642																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2815-2817)Gag>Aag		Rho GTPase activating protein 39							74.0	52.0	59.0					8																	145757761		2203	4298	6501	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145757761C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2815G>A	8.37:g.145757761C>T	ENSP00000276826:p.Glu939Lys					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K	p.E939K			Q9C0H5	RHG39_HUMAN			8	3016	-			939			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2815G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.440753	0.96168	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.18657	2.2;2.2;2.2	5.45	5.45	0.79879	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.957;0.994	T	0.02081	-1.1217	10	0.35671	T	0.21	-33.0693	16.768	0.85528	0.0:1.0:0.0:0.0	.	939;970	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	939;970;939	ENSP00000276826:E939K;ENSP00000366522:E970K;ENSP00000445075:E939K	ENSP00000276826:E939K	E	-	1	0	ARHGAP39	145728569	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.656000	0.83736	2.565000	0.86533	0.561000	0.74099	GAG		0.642	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			19	115	0	0	0	1	0	19	115				
NUDT11	55190	broad.mit.edu	37	X	51239242	51239242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51239242G>A	ENST00000375992.3	-	1	206	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	19	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.|Substrate binding. {ECO:0000250}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CACGCCGCCCGCTTCTTGAAC	0.672										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(55-57)Cgg>Tgg		nudix (nucleoside diphosphate linked moiety X)-type motif 11							22.0	21.0	21.0					X																	51239242		2201	4298	6499	SO:0001583	missense	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239242G>A	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.55C>T	X.37:g.51239242G>A	ENSP00000365160:p.Arg19Trp	HNSCC(48;0.14)					p.R19W	NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			1	206	-	Ovarian(276;0.236)		19			Nudix hydrolase.|Substrate binding (By similarity).		Q9NVN0	Missense_Mutation	SNP	ENST00000375992.3	37	c.55C>T	CCDS43952.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532862	0.64972	.	.	ENSG00000196368	ENST00000375992	T	0.43688	0.94	3.14	2.25	0.28309	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.93420	3.415	0.46260	D	0.998958	D	0.89917	1.0	D	0.97110	1.0	T	0.77683	-0.2496	9	0.59425	D	0.04	-21.8399	9.3444	0.38100	0.0:0.2171:0.7829:0.0	.	19	Q96G61	NUD11_HUMAN	W	19	ENSP00000365160:R19W	ENSP00000365160:R19W	R	-	1	2	NUDT11	51255982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.615000	0.36922	0.502000	0.28037	0.544000	0.68410	CGG		0.672	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			7	137	0	0	0	1	0	7	137				
SORL1	6653	broad.mit.edu	37	11	121440888	121440888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121440888G>A	ENST00000260197.7	+	23	3375	c.3246G>A	c.(3244-3246)caG>caA	p.Q1082Q	SORL1_ENST00000525532.1_Silent_p.Q26Q	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1082	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCGCAACCAGTATCGCTGCA	0.483																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3244-3246)caG>caA		sortilin-related receptor, L(DLR class) A repeats containing							247.0	197.0	214.0					11																	121440888		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121440888G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3246G>A	11.37:g.121440888G>A						SORL1_ENST00000525532.1_Silent_p.Q26Q	p.Q1082Q	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	23	3375	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1082			LDL-receptor class A 1.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.3246G>A	CCDS8436.1																																																																																				0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		75	358	0	0	0	1	0	75	358				
CXorf36	79742	broad.mit.edu	37	X	45059910	45059910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:45059910G>A	ENST00000398000.2	-	1	236	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RP11-342D14.1_ENST00000438181.1_RNA|CXorf36_ENST00000377934.4_Silent_p.F54F|RP11-342D14.1_ENST00000450527.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	54						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CAAGACCGAGGAAAGTCCTTC	0.428																																						ENST00000398000.2																			0				endometrium(1)|large_intestine(2)|lung(4)	7						c.(160-162)ttC>ttT		chromosome X open reading frame 36							79.0	74.0	75.0					X																	45059910		2203	4300	6503	SO:0001819	synonymous_variant	79742					extracellular region		g.chrX:45059910G>A	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.162C>T	X.37:g.45059910G>A						CXorf36_ENST00000377934.4_Silent_p.F54F|RP11-342D14.1_ENST00000450527.1_RNA|RP11-342D14.1_ENST00000438181.1_RNA	p.F54F	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN			1	236	-			54					A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	37	c.162C>T	CCDS48096.1																																																																																				0.428	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		69	255	0	0	0	1	0	69	255				
NCKAP5L	57701	broad.mit.edu	37	12	50195630	50195630	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50195630C>T	ENST00000335999.6	-	6	553		c.e6+1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGATGCCTACCTGAGGGAGC	0.592																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.e6+1		NCK-associated protein 5-like							124.0	139.0	134.0					12																	50195630		2176	4269	6445	SO:0001630	splice_region_variant	57701							g.chr12:50195630C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.351+1G>A	12.37:g.50195630C>T								NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			6	553	-								Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Splice_Site	SNP	ENST00000335999.6	37		CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180587	0.38511	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8951	0.86098	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5L	48481897	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	6.930000	0.75858	2.359000	0.80004	0.561000	0.74099	.		0.592	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	Intron	51	260	0	0	0	1	0	51	260				
ZNF467	168544	broad.mit.edu	37	7	149467528	149467528	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149467528C>T	ENST00000302017.3	-	3	565		c.e3+1		ZNF467_ENST00000484747.1_Splice_Site	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTTACCTACCTGAGCACAC	0.612																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.e3+1		zinc finger protein 467							57.0	57.0	57.0					7																	149467528		2203	4300	6503	SO:0001630	splice_region_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149467528C>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.151+1G>A	7.37:g.149467528C>T						ZNF467_ENST00000484747.1_Splice_Site		NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		3	565	-	Melanoma(164;0.165)|Ovarian(565;0.177)								Splice_Site	SNP	ENST00000302017.3	37		CCDS5899.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612050	0.28712	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4988	0.61442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF467	149098461	1.000000	0.71417	0.992000	0.48379	0.307000	0.27823	3.805000	0.55575	2.023000	0.59567	0.556000	0.70494	.		0.612	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	Intron	33	198	0	0	0	1	0	33	198				
ETFDH	2110	broad.mit.edu	37	4	159627858	159627858	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627858T>G	ENST00000511912.1	+	12	1878	c.1546T>G	c.(1546-1548)Ttt>Gtt	p.F516V	ETFDH_ENST00000307738.5_Missense_Mutation_p.F469V	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	516					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAGATCAGTTTTGACCTCTT	0.438																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1546-1548)Ttt>Gtt		electron-transferring-flavoprotein dehydrogenase							198.0	187.0	191.0					4																	159627858		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627858T>G	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1546T>G	4.37:g.159627858T>G	ENSP00000426638:p.Phe516Val					ETFDH_ENST00000307738.5_Missense_Mutation_p.F469V	p.F516V	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	12	1878	+	all_hematologic(180;0.24)	Renal(120;0.0458)	516					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1546T>G	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055411	0.93793	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94457	-3.43;-3.43	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-20.7069	16.0345	0.80612	0.0:0.0:0.0:1.0	.	469;455;516	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	V	516;469	ENSP00000426638:F516V;ENSP00000303552:F469V	ENSP00000303552:F469V	F	+	1	0	ETFDH	159847308	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.183000	0.69458	0.482000	0.46254	TTT		0.438	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			181	723	0	0	0	1	0	181	723				
MED31	51003	broad.mit.edu	37	17	6547942	6547942	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6547942A>G	ENST00000225728.3	-	4	346	c.241T>C	c.(241-243)Tat>Cat	p.Y81H	MED31_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y7H	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	81					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						AAGTGTTCATATTGGAGCAGC	0.408																																						ENST00000225728.3																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.(241-243)Tat>Cat		mediator complex subunit 31							108.0	97.0	100.0					17																	6547942		2203	4300	6503	SO:0001583	missense	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6547942A>G	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"""mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"""			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.241T>C	17.37:g.6547942A>G	ENSP00000225728:p.Tyr81His					MED31_ENST00000574128.1_Missense_Mutation_p.Y7H|MED31_ENST00000575197.1_3'UTR	p.Y81H	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN			4	346	-			81					B2R4L9	Missense_Mutation	SNP	ENST00000225728.3	37	c.241T>C	CCDS11078.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789208	0.31685	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.69	5.69	0.88448	.	0.109888	0.64402	D	0.000004	T	0.44286	0.1286	N	0.21617	0.685	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.29822	-0.9999	9	0.29301	T	0.29	-9.6399	14.2142	0.65783	1.0:0.0:0.0:0.0	.	81	Q9Y3C7	MED31_HUMAN	H	81	.	ENSP00000225728:Y81H	Y	-	1	0	MED31	6488666	1.000000	0.71417	0.105000	0.21289	0.322000	0.28314	6.675000	0.74493	2.304000	0.77564	0.528000	0.53228	TAT		0.408	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060		93	348	0	0	0	1	0	93	348				
SCN2A	6326	broad.mit.edu	37	2	166243340	166243340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166243340G>A	ENST00000375437.2	+	26	4926	c.4636G>A	c.(4636-4638)Gtc>Atc	p.V1546I	SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1546					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTAACATGGTCACCATGAT	0.373																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4636-4638)Gtc>Atc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						174.0	156.0	163.0					2																	166243340		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166243340G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4636G>A	2.37:g.166243340G>A	ENSP00000364586:p.Val1546Ile					SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I|SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I	p.V1546I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			26	4926	+			1546					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4636G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118074	0.56505	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	D	0.93913	0.8052	L	0.28776	0.89	0.80722	D	1	P;B	0.39216	0.664;0.009	B;B	0.35688	0.208;0.02	D	0.93458	0.6808	10	0.33940	T	0.23	.	18.6724	0.91516	0.0:0.0:1.0:0.0	.	1546;1546	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1546	ENSP00000364586:V1546I;ENSP00000349973:V1546I;ENSP00000283256:V1546I;ENSP00000364576:V1546I	ENSP00000283256:V1546I	V	+	1	0	SCN2A	165951586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.418000	0.82041	0.650000	0.86243	GTC		0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		83	219	0	0	0	1	0	83	219				
ATG7	10533	broad.mit.edu	37	3	11600188	11600188	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11600188C>T	ENST00000354449.3	+	0	4959				VGLL4_ENST00000451674.2_Missense_Mutation_p.D159N|VGLL4_ENST00000413604.1_Missense_Mutation_p.D180N|VGLL4_ENST00000424529.2_Missense_Mutation_p.D155N|VGLL4_ENST00000404339.1_Missense_Mutation_p.D244N|VGLL4_ENST00000273038.3_Missense_Mutation_p.D239N|VGLL4_ENST00000430365.2_Missense_Mutation_p.D245N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GCAAAGTGGTCGTCCACGGAG	0.642																																						ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(715-717)Gac>Aac		vestigial like 4 (Drosophila)							74.0	85.0	82.0					3																	11600188		2203	4300	6503	SO:0001628	intergenic_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11600188C>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600188C>T						VGLL4_ENST00000424529.2_Missense_Mutation_p.D155N|VGLL4_ENST00000413604.1_Missense_Mutation_p.D180N|VGLL4_ENST00000451674.2_Missense_Mutation_p.D159N|VGLL4_ENST00000404339.1_Missense_Mutation_p.D244N|VGLL4_ENST00000430365.2_Missense_Mutation_p.D245N	p.D239N	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	6	1080	-			239					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.715G>A	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	c	36	5.771150	0.96914	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.67171	-0.25;-0.15;-0.22	5.27	5.27	0.74061	.	0.043968	0.85682	D	0.000000	D	0.82416	0.5032	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.997	D	0.84493	0.0612	10	0.87932	D	0	-38.4986	18.8719	0.92319	0.0:1.0:0.0:0.0	.	245;159;155;244;239	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	N	239;180;159;155;245;244	ENSP00000273038:D239N;ENSP00000404251:D245N;ENSP00000384705:D244N	ENSP00000273038:D239N	D	-	1	0	VGLL4	11575188	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.682000	0.84083	2.468000	0.83385	0.558000	0.71614	GAC		0.642	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		128	564	0	0	0	1	0	128	564				
PCBP3	54039	broad.mit.edu	37	21	47337513	47337513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47337513C>T	ENST00000400314.1	+	11	1025	c.687C>T	c.(685-687)atC>atT	p.I229I	PCBP3_ENST00000400309.1_Silent_p.I229I|PCBP3_ENST00000400304.1_Silent_p.I220I|PCBP3_ENST00000400310.1_Silent_p.I229I|PCBP3_ENST00000449640.1_Silent_p.I229I|PCBP3_ENST00000400308.1_Silent_p.I204I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	229					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCTACACAATCCAGGGACAGT	0.562																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(685-687)atC>atT		poly(rC) binding protein 3							217.0	236.0	230.0					21																	47337513		2088	4215	6303	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47337513C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.687C>T	21.37:g.47337513C>T						PCBP3_ENST00000400304.1_Silent_p.I220I|PCBP3_ENST00000400309.1_Silent_p.I229I|PCBP3_ENST00000400308.1_Silent_p.I204I|PCBP3_ENST00000449640.1_Silent_p.I229I|PCBP3_ENST00000400310.1_Silent_p.I229I|PCBP3_ENST00000468429.1_3'UTR	p.I229I			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	11	1025	+	all_hematologic(128;0.24)		229					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.687C>T	CCDS42974.2																																																																																				0.562	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			98	370	0	0	0	1	0	98	370				
SLC35B4	84912	broad.mit.edu	37	7	133991519	133991519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133991519C>T	ENST00000378509.4	-	3	498	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	67					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ACCATTATGGCATAGTACCTG	0.388																																						ENST00000378509.4																			0				large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						c.(199-201)Gcc>Acc		solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							112.0	87.0	96.0					7																	133991519		2203	4300	6503	SO:0001583	missense	84912					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity	g.chr7:133991519C>T	AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.199G>A	7.37:g.133991519C>T	ENSP00000367770:p.Ala67Thr						p.A67T	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN			3	498	-			67					A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	37	c.199G>A	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040817	0.35989	.	.	ENSG00000205060	ENST00000378509	T	0.70516	-0.49	5.5	4.61	0.57282	.	0.408445	0.27035	N	0.021249	T	0.52869	0.1761	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.32534	-0.9903	10	0.22706	T	0.39	-10.5705	5.4046	0.16314	0.1271:0.5738:0.223:0.0761	.	67;67	Q969S0-2;Q969S0	.;S35B4_HUMAN	T	67	ENSP00000367770:A67T	ENSP00000367770:A67T	A	-	1	0	SLC35B4	133642059	0.104000	0.21937	0.076000	0.20297	0.850000	0.48378	0.726000	0.25984	1.445000	0.47624	0.563000	0.77884	GCC		0.388	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826		28	133	0	0	0	1	0	28	133				
HLA-F-AS1	285830	broad.mit.edu	37	6	29713322	29713322	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29713322C>A	ENST00000458236.1	-	0	276									HLA-F antisense RNA 1																		TCTTCAGTCTCTGTGTCCCAG	0.592																																						ENST00000458236.1																			0																																																			0							g.chr6:29713322C>A	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29713322C>A														0	276	-									RNA	SNP	ENST00000458236.1	37																																																																																						0.592	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		15	69	1	0	1.05317e-09	1	1.11087e-09	15	69				
QRICH2	84074	broad.mit.edu	37	17	74289861	74289861	+	Missense_Mutation	SNP	G	G	A	rs141784144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289861G>A	ENST00000262765.5	-	4	628	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	150										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACGGGCCCTCGGCTGCTGCTG	0.552																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(448-450)cCg>cTg		glutamine rich 2		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	60.0	61.0	60.0		449	2.2	0.1	17	dbSNP_134	60	0,8600		0,0,4300	no	missense	QRICH2	NM_032134.1	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	150/1664	74289861	2,13004	2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289861G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.449C>T	17.37:g.74289861G>A	ENSP00000262765:p.Pro150Leu						p.P150L	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	628	-			150					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.449C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447588	0.12223	4.54E-4	0.0	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08546	3.08	3.23	2.25	0.28309	.	.	.	.	.	T	0.06735	0.0172	L	0.47190	1.495	0.22858	N	0.998644	B;B	0.24882	0.113;0.059	B;B	0.16722	0.016;0.005	T	0.41431	-0.9509	9	0.11485	T	0.65	-0.8082	6.4366	0.21827	0.1354:0.0:0.8646:0.0	.	150;150	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	150	ENSP00000262765:P150L	ENSP00000262765:P150L	P	-	2	0	QRICH2	71801456	0.001000	0.12720	0.056000	0.19401	0.031000	0.12232	0.176000	0.16782	0.930000	0.37217	0.563000	0.77884	CCG		0.552	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		76	287	0	0	0	1	0	76	287				
MAPK11	5600	broad.mit.edu	37	22	50705581	50705581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50705581G>T	ENST00000330651.6	-	6	570	c.470C>A	c.(469-471)gCt>gAt	p.A157D	MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CTCGTTCACAGCCACGTTGCT	0.706																																					GBM(9;634 739 50668)	ENST00000330651.6																			0				breast(1)|central_nervous_system(1)|lung(4)	6						c.(469-471)gCt>gAt		mitogen-activated protein kinase 11							35.0	34.0	35.0					22																	50705581		2200	4296	6496	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705581G>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.470C>A	22.37:g.50705581G>T	ENSP00000333685:p.Ala157Asp					MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D	p.A157D	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	570	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	157			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.470C>A	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	g	32	5.128724	0.94473	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.65364	-0.15;-0.15	4.84	3.8	0.43715	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.65015	0.2651	N	0.17082	0.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.988;0.999	T	0.70015	-0.4988	10	0.72032	D	0.01	-12.0188	13.5162	0.61541	0.0:0.0:0.8421:0.1579	.	49;157	B7Z630;Q15759	.;MK11_HUMAN	D	157;49	ENSP00000333685:A157D;ENSP00000406921:A49D	ENSP00000333685:A157D	A	-	2	0	MAPK11	49047708	1.000000	0.71417	0.829000	0.32907	0.990000	0.78478	7.347000	0.79356	1.160000	0.42584	0.537000	0.68136	GCT		0.706	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			23	106	1	0	4.26978e-12	1	4.57227e-12	23	106				
TRPM1	4308	broad.mit.edu	37	15	31318444	31318444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318444C>A	ENST00000256552.6	-	27	3674	c.3527G>T	c.(3526-3528)aGg>aTg	p.R1176M	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1193M|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGCAGCCTCTTTAGCTC	0.542																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3577-3579)aGg>aTg		transient receptor potential cation channel, subfamily M, member 1							53.0	56.0	55.0					15																	31318444		2090	4219	6309	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31318444C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3527G>T	15.37:g.31318444C>A	ENSP00000256552:p.Arg1176Met					TRPM1_ENST00000256552.6_Missense_Mutation_p.R1176M|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M|RP11-348B17.1_ENST00000558755.1_RNA	p.R1193M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	3891	-		all_lung(180;1.92e-11)	1154						Missense_Mutation	SNP	ENST00000256552.6	37	c.3578G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082368	0.36758	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.12774	2.65;2.65;2.65	5.5	2.09	0.27110	.	0.280157	0.43260	D	0.000597	T	0.08670	0.0215	N	0.25992	0.78	0.20975	N	0.999819	B;B	0.22851	0.076;0.01	B;B	0.21917	0.037;0.011	T	0.23940	-1.0174	10	0.87932	D	0	-29.4723	5.458	0.16602	0.0:0.4423:0.0:0.5577	.	1148;1154	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	1154;1193;1176;1154	ENSP00000380897:R1154M;ENSP00000437849:R1193M;ENSP00000256552:R1176M	ENSP00000256552:R1176M	R	-	2	0	TRPM1	29105736	0.276000	0.24211	0.847000	0.33407	0.717000	0.41224	0.641000	0.24720	0.785000	0.33685	-0.194000	0.12790	AGG		0.542	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		39	137	1	0	7.04047e-22	1	7.94894e-22	39	137				
MOV10	4343	broad.mit.edu	37	1	113243054	113243054	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113243054C>A	ENST00000413052.2	+	21	3327	c.2937C>A	c.(2935-2937)gaC>gaA	p.D979E	MOV10_ENST00000369644.1_Missense_Mutation_p.D923E|MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.D979E	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	979					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACAGCCATGACTACCTCCCCC	0.602																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2767-2769)gaC>gaA		Mov10, Moloney leukemia virus 10, homolog (mouse)							80.0	83.0	82.0					1																	113243054		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113243054C>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2937C>A	1.37:g.113243054C>A	ENSP00000399797:p.Asp979Glu					MOV10_ENST00000357443.2_Missense_Mutation_p.D979E|MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.D979E	p.D923E			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	22	3798	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	979					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2769C>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	3.646	-0.072504	0.07228	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91011	-2.77;-2.77;-2.76;-2.77	5.11	2.12	0.27331	.	0.578929	0.17478	N	0.172838	T	0.60130	0.2245	N	0.22421	0.69	0.20307	N	0.999918	B	0.16603	0.018	B	0.11329	0.006	T	0.54655	-0.8261	10	0.02654	T	1	-9.6831	6.2632	0.20912	0.0:0.6594:0.1626:0.1779	.	979	Q9HCE1	MOV10_HUMAN	E	979;979;923;979;917	ENSP00000399797:D979E;ENSP00000358659:D979E;ENSP00000358658:D923E;ENSP00000350028:D979E	ENSP00000350028:D979E	D	+	3	2	MOV10	113044577	0.065000	0.20965	0.005000	0.12908	0.003000	0.03518	0.539000	0.23175	0.635000	0.30488	-0.251000	0.11542	GAC		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		39	256	1	0	1.59361e-14	1	1.73214e-14	39	256				
ANKRD23	200539	broad.mit.edu	37	2	97506535	97506535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97506535C>T	ENST00000318357.4	-	4	456	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000476975.1_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	139					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTGTCATGGGCATTGGGGTCC	0.597																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(415-417)Gcc>Acc		ankyrin repeat domain 23							137.0	125.0	129.0					2																	97506535		2203	4300	6503	SO:0001583	missense	200539					nucleus		g.chr2:97506535C>T		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.415G>A	2.37:g.97506535C>T	ENSP00000321679:p.Ala139Thr					ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000476975.1_Intron	p.A139T	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			4	456	-			139					Q711K7|Q8NAJ7	Missense_Mutation	SNP	ENST00000318357.4	37	c.415G>A	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078512	0.36662	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	T;T	0.66995	-0.24;-0.24	5.03	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.000000	0.39274	N	0.001404	T	0.65375	0.2685	L	0.55743	1.74	0.80722	D	1	P	0.48089	0.905	P	0.50490	0.642	T	0.60875	-0.7176	10	0.17832	T	0.49	-14.3014	9.5251	0.39160	0.0:0.9046:0.0:0.0954	.	139	Q86SG2	ANR23_HUMAN	T	139	ENSP00000321679:A139T;ENSP00000398987:A139T	ENSP00000321679:A139T	A	-	1	0	ANKRD23	96870262	0.302000	0.24454	0.965000	0.40720	0.881000	0.50899	0.725000	0.25970	1.361000	0.45981	-0.224000	0.12420	GCC		0.597	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		159	500	0	0	0	1	0	159	500				
GSS	2937	broad.mit.edu	37	20	33517274	33517274	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33517274G>A	ENST00000216951.2	-	12	1329	c.1231C>T	c.(1231-1233)Cta>Tta	p.L411L	GSS_ENST00000451957.2_Silent_p.L300L|GSS_ENST00000541098.1_Silent_p.L283L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	411					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCAGGCCGTAGCAGGCAATTC	0.547																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(1231-1233)Cta>Tta		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						216.0	197.0	204.0					20																	33517274		2203	4300	6503	SO:0001819	synonymous_variant	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33517274G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1231C>T	20.37:g.33517274G>A						GSS_ENST00000541098.1_Silent_p.L283L|GSS_ENST00000451957.2_Silent_p.L300L	p.L411L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		12	1329	-			411					B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	c.1231C>T	CCDS13245.1																																																																																				0.547	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			236	1072	0	0	0	1	0	236	1072				
SCN3A	6328	broad.mit.edu	37	2	166019220	166019220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166019220G>A	ENST00000360093.3	-	8	1304	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SCN3A_ENST00000409101.3_Silent_p.G271G|SCN3A_ENST00000283254.7_Silent_p.G271G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	271					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTCAGATTGCCCATGAACA	0.473																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(811-813)ggC>ggT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						114.0	109.0	111.0					2																	166019220		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019220G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.813C>T	2.37:g.166019220G>A						SCN3A_ENST00000409101.3_Silent_p.G271G|SCN3A_ENST00000283254.7_Silent_p.G271G	p.G271G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			8	1304	-			271					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.813C>T																																																																																					0.473	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		120	337	0	0	0	1	0	120	337				
PTPRS	5802	broad.mit.edu	37	19	5222822	5222822	+	Missense_Mutation	SNP	G	G	A	rs370623380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5222822G>A	ENST00000587303.1	-	17	3080	c.2981C>T	c.(2980-2982)gCg>gTg	p.A994V	PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A995V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	994	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CAGCGTGAGCGCGTTCTCCGC	0.731													g|||	2	0.000399361	0.0015	0.0	5008	,	,		8124	0.0		0.0	False		,,,				2504	0.0					ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(2983-2985)gCg>gTg		protein tyrosine phosphatase, receptor type, S		A	VAL/ALA,,VAL/ALA,	2,4200		0,2,2099	12.0	15.0	14.0		2981,,2915,	-0.8	0.8	19		14	0,8130		0,0,4065	no	missense,intron,missense,intron	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	64,,64,	0,2,6164	AA,AG,GG		0.0,0.0476,0.0162	benign,,benign,	994/1949,,972/1911,	5222822	2,12330	2101	4065	6166	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5222822G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2981C>T	19.37:g.5222822G>A	ENSP00000467537:p.Ala994Val					PTPRS_ENST00000587303.1_Missense_Mutation_p.A994V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000592099.1_Intron	p.A995V			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	18	3217	-			994	L -> V (in Ref. 1; AAC50299).		Fibronectin type-III 7.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.2984C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	5.095	0.203235	0.09704	4.76E-4	0.0	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.33	-0.79	0.10932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.405543	0.21402	N	0.075123	T	0.37265	0.0997	L	0.39020	1.185	0.19575	N	0.999969	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.21143	-1.0254	10	0.29301	T	0.29	.	10.5921	0.45316	0.2704:0.0:0.7296:0.0	.	972;994	Q13332-6;Q13332	.;PTPRS_HUMAN	V	995;994;994;985;990;972	ENSP00000361489:A995V;ENSP00000349932:A994V;ENSP00000262963:A990V;ENSP00000269907:A972V	ENSP00000262963:A990V	A	-	2	0	PTPRS	5173822	0.450000	0.25697	0.820000	0.32676	0.232000	0.25224	0.394000	0.20834	-0.270000	0.09285	-0.993000	0.02533	GCG		0.731	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			45	198	0	0	0	1	0	45	198				
PRG4	10216	broad.mit.edu	37	1	186273347	186273347	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186273347A>C	ENST00000445192.2	+	5	472	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	143					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCAAACAAGAAGAAGACTAA	0.398																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(427-429)Aag>Cag		proteoglycan 4							157.0	150.0	153.0					1																	186273347		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186273347A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.427A>C	1.37:g.186273347A>C	ENSP00000399679:p.Lys143Gln					PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q	p.K143Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			5	472	+			143					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.427A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086542	0.55861	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.07688	3.17;3.27;3.19;3.22	5.3	5.3	0.74995	.	0.156884	0.29948	N	0.010787	T	0.17238	0.0414	L	0.29908	0.895	0.29742	N	0.837011	D;D	0.71674	0.997;0.998	D;D	0.68943	0.915;0.961	T	0.01608	-1.1313	10	0.87932	D	0	.	12.7893	0.57523	1.0:0.0:0.0:0.0	.	143;102	Q92954;Q92954-2	PRG4_HUMAN;.	Q	143;102;102;143	ENSP00000356456:K143Q;ENSP00000356454:K102Q;ENSP00000356453:K102Q;ENSP00000399679:K143Q	ENSP00000356453:K102Q	K	+	1	0	PRG4	184539970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.955000	0.56715	2.006000	0.58801	0.477000	0.44152	AAG		0.398	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		43	283	0	0	0	1	0	43	283				
LRRC43	254050	broad.mit.edu	37	12	122677357	122677357	+	Silent	SNP	C	C	T	rs184792850		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122677357C>T	ENST00000339777.4	+	7	1183	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	LRRC43_ENST00000425921.1_Silent_p.D200D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	385	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGTGGAAGACGTCATCGAAG	0.517													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.0					ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1153-1155)gaC>gaT		leucine rich repeat containing 43							114.0	114.0	114.0					12																	122677357		2032	4205	6237	SO:0001819	synonymous_variant	254050							g.chr12:122677357C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1155C>T	12.37:g.122677357C>T						LRRC43_ENST00000425921.1_Silent_p.D200D	p.D385D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	7	1183	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		385			Glu-rich.		Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.1155C>T	CCDS45001.1																																																																																				0.517	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		68	272	0	0	0	1	0	68	272				
BCAR1	9564	broad.mit.edu	37	16	75276721	75276721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75276721G>A	ENST00000162330.5	-	2	406	c.280C>T	c.(280-282)Cct>Tct	p.P94S	BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S|BCAR1_ENST00000546196.1_Missense_Mutation_p.P65S|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	94					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCGGAGGCGCTGGGGCA	0.677																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(193-195)Cct>Tct		breast cancer anti-estrogen resistance 1							34.0	37.0	36.0					16																	75276721		2198	4299	6497	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276721G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.280C>T	16.37:g.75276721G>A	ENSP00000162330:p.Pro94Ser					BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S|BCAR1_ENST00000162330.5_Missense_Mutation_p.P94S|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S	p.P65S			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	1845	-			94			SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.193C>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.405442	0.00195	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.0	2.74	0.32292	.	0.733051	0.11840	N	0.524401	T	0.73337	0.3574	L	0.34521	1.04	0.20403	N	0.999903	B;P;D;B;P;B;B	0.67145	0.136;0.948;0.996;0.033;0.492;0.007;0.05	B;P;D;B;B;B;B	0.78314	0.02;0.68;0.991;0.04;0.112;0.007;0.02	T	0.61058	-0.7139	10	0.09843	T	0.71	-18.0329	6.4284	0.21782	0.2322:0.0:0.7678:0.0	.	112;140;92;94;112;94;94	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	94;112;112;94;140;94;92;65	ENSP00000162330:P94S;ENSP00000377074:P112S;ENSP00000392708:P112S;ENSP00000443841:P94S;ENSP00000391669:P140S;ENSP00000377072:P94S;ENSP00000440415:P92S;ENSP00000442161:P65S	ENSP00000162330:P94S	P	-	1	0	BCAR1	73834222	0.223000	0.23663	0.144000	0.22314	0.035000	0.12851	0.902000	0.28459	1.929000	0.55896	0.655000	0.94253	CCT		0.677	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		89	381	0	0	0	1	0	89	381				
MYO1F	4542	broad.mit.edu	37	19	8612995	8612995	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8612995G>A	ENST00000338257.8	-	12	1461	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	398	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F398F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAAACTGCTCGAAGCCATTTT	0.542																																						ENST00000338257.8																			1	Substitution - coding silent(1)	p.F398F(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1192-1194)ttC>ttT		myosin IF							147.0	143.0	144.0					19																	8612995		1933	4142	6075	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8612995G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1194C>T	19.37:g.8612995G>A							p.F398F	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			12	1461	-			398			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1194C>T	CCDS42494.1																																																																																				0.542	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			192	881	0	0	0	1	0	192	881				
FETUB	26998	broad.mit.edu	37	3	186358424	186358424	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186358424G>C	ENST00000265029.3	+	1	276	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R	FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Missense_Mutation_p.G59R|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	59	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAGGATGGCTATGTGCT	0.577																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(175-177)Ggc>Cgc		fetuin B							157.0	167.0	163.0					3																	186358424		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186358424G>C	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.175G>C	3.37:g.186358424G>C	ENSP00000265029:p.Gly59Arg					FETUB_ENST00000382136.3_Missense_Mutation_p.G59R|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R	p.G59R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	1	276	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		59			Cystatin fetuin-B-type 1.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.175G>C	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367130	0.82463	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.51817	1.6;1.6;0.69;0.69	5.26	5.26	0.73747	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.000000	0.64402	D	0.000008	T	0.74749	0.3757	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.80025	-0.1555	10	0.87932	D	0	-32.4386	15.109	0.72340	0.0:0.0:1.0:0.0	.	59;59;59	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	59	ENSP00000404288:G59R;ENSP00000265029:G59R;ENSP00000371569:G59R;ENSP00000371571:G59R	ENSP00000265029:G59R	G	+	1	0	FETUB	187841118	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	4.938000	0.63519	2.840000	0.97914	0.655000	0.94253	GGC		0.577	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		227	1013	0	0	0	1	0	227	1013				
RAI1	10743	broad.mit.edu	37	17	17700424	17700424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700424G>A	ENST00000353383.1	+	3	4631	c.4162G>A	c.(4162-4164)Ggg>Agg	p.G1388R	RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1388					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGTGGGCACCGGGCAGAAGCT	0.532																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4162-4164)Ggg>Agg		retinoic acid induced 1							78.0	84.0	82.0					17																	17700424		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700424G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4162G>A	17.37:g.17700424G>A	ENSP00000323074:p.Gly1388Arg					RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	p.G1388R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4631	+			1388					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4162G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459148	0.43634	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69040	-0.37;0.2	5.09	4.12	0.48240	.	0.395398	0.23748	N	0.044943	T	0.61726	0.2370	L	0.51422	1.61	0.34082	D	0.659737	D	0.60160	0.987	P	0.45377	0.478	T	0.73404	-0.3993	10	0.66056	D	0.02	.	9.2067	0.37293	0.077:0.0:0.7775:0.1455	.	1388	Q7Z5J4	RAI1_HUMAN	R	1388;1388;1388;1340	ENSP00000323074:G1388R;ENSP00000261641:G1388R	ENSP00000261641:G1388R	G	+	1	0	RAI1	17641149	0.998000	0.40836	0.946000	0.38457	0.577000	0.36160	3.398000	0.52579	1.130000	0.42092	0.462000	0.41574	GGG		0.532	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		92	506	0	0	0	1	0	92	506				
CCDC14	64770	broad.mit.edu	37	3	123665936	123665936	+	Silent	SNP	T	T	C	rs373769754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123665936T>C	ENST00000488653.2	-	8	1149	c.1059A>G	c.(1057-1059)acA>acG	p.T353T	CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000485727.1_Silent_p.T153T|CCDC14_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Silent_p.T312T			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	353					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGACAAATATGTTTGAATAC	0.413																																						ENST00000485727.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21						c.(457-459)acA>acG		coiled-coil domain containing 14							174.0	163.0	167.0					3																	123665936		2203	4300	6503	SO:0001819	synonymous_variant	64770					centrosome		g.chr3:123665936T>C	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1059A>G	3.37:g.123665936T>C						CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000433542.2_Silent_p.T312T|CCDC14_ENST00000488653.2_Silent_p.T353T	p.T153T			Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	4	5051	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	353					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37	c.459A>G																																																																																					0.413	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		95	508	0	0	0	1	0	95	508				
MYRF	745	broad.mit.edu	37	11	61543861	61543861	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61543861G>A	ENST00000278836.5	+	10	1552	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T	MYRF_ENST00000327797.1_Missense_Mutation_p.A111T|MYRF_ENST00000265460.5_Missense_Mutation_p.A477T|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	486					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CGAGACCACCGCTAACAACAT	0.642											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278836.5																			0											c.(1456-1458)Gct>Act		myelin regulatory factor							26.0	26.0	26.0					11																	61543861		2202	4299	6501	SO:0001583	missense	745							g.chr11:61543861G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1456G>A	11.37:g.61543861G>A	ENSP00000278836:p.Ala486Thr		OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	MYRF_ENST00000327797.1_Missense_Mutation_p.A111T|MYRF_ENST00000265460.5_Missense_Mutation_p.A477T|TMEM258_ENST00000535042.1_Intron	p.A486T	NM_001127392.1	NP_001120864.1					10	1552	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.1456G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087096	0.94100	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.51071	1.25;1.25;0.72	4.57	3.64	0.41730	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.115700	0.56097	D	0.000021	T	0.65344	0.2682	M	0.73753	2.245	0.58432	D	0.999998	D;D	0.65815	0.995;0.977	D;P	0.64687	0.928;0.701	T	0.68010	-0.5522	10	0.48119	T	0.1	-21.0715	14.1629	0.65457	0.0:0.0:0.8487:0.1513	.	477;486	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	T	486;477;111	ENSP00000278836:A486T;ENSP00000265460:A477T;ENSP00000333261:A111T	ENSP00000265460:A477T	A	+	1	0	C11orf9	61300437	1.000000	0.71417	0.736000	0.30914	0.946000	0.59487	9.416000	0.97383	1.026000	0.39733	0.455000	0.32223	GCT		0.642	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		33	130	0	0	0	1	0	33	130				
IL17RA	23765	broad.mit.edu	37	22	17590366	17590366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17590366C>T	ENST00000319363.6	+	13	2390	c.2257C>T	c.(2257-2259)Ctc>Ttc	p.L753F		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	753					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		AGGCTTGATGCTCTCGCTCTT	0.662																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(2257-2259)Ctc>Ttc		interleukin 17 receptor A							24.0	23.0	23.0					22																	17590366		2202	4299	6501	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17590366C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2257C>T	22.37:g.17590366C>T	ENSP00000320936:p.Leu753Phe						p.L753F	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	2390	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	753					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.2257C>T	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	6.369	0.436184	0.12104	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06294	3.32	4.48	-8.95	0.00765	.	1.479250	0.04012	N	0.298422	T	0.02047	0.0064	N	0.03608	-0.345	0.21897	N	0.999484	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.41574	-0.9501	10	0.02654	T	1	-2.7623	8.0081	0.30336	0.0:0.2511:0.2848:0.4641	.	701;753	D3YTB4;Q96F46	.;I17RA_HUMAN	F	701;753	ENSP00000320936:L753F	ENSP00000320936:L753F	L	+	1	0	IL17RA	15970366	0.700000	0.27796	0.009000	0.14445	0.239000	0.25481	-0.054000	0.11826	-1.855000	0.01162	-0.304000	0.09214	CTC		0.662	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		31	95	0	0	0	1	0	31	95				
GJA8	2703	broad.mit.edu	37	1	147380849	147380849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380849C>T	ENST00000369235.1	+	1	767	c.767C>T	c.(766-768)gCt>gTt	p.A256V	GJA8_ENST00000240986.4_Missense_Mutation_p.A256V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	256					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACTCCATTGCTGTCTCCTCC	0.562																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(766-768)gCt>gTt		gap junction protein, alpha 8, 50kDa							50.0	52.0	51.0					1																	147380849		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380849C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.767C>T	1.37:g.147380849C>T	ENSP00000358238:p.Ala256Val					GJA8_ENST00000369235.1_Missense_Mutation_p.A256V	p.A256V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	820	+	all_hematologic(923;0.0276)		256					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.767C>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.708967	0.48517	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97791	-4.54;-4.54	4.4	4.4	0.53042	.	4.457000	0.00582	N	0.000325	D	0.95287	0.8471	L	0.32530	0.975	0.54753	D	0.999982	P	0.49783	0.928	P	0.45071	0.468	D	0.86106	0.1559	10	0.31617	T	0.26	.	17.1387	0.86747	0.0:1.0:0.0:0.0	.	256	P48165	CXA8_HUMAN	V	256	ENSP00000240986:A256V;ENSP00000358238:A256V	ENSP00000240986:A256V	A	+	2	0	GJA8	145847473	1.000000	0.71417	0.887000	0.34795	0.979000	0.70002	4.672000	0.61597	2.267000	0.75376	0.313000	0.20887	GCT		0.562	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		66	286	0	0	0	1	0	66	286				
DDX50	79009	broad.mit.edu	37	10	70679738	70679738	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70679738G>A	ENST00000373585.3	+	8	1346		c.e8+1		DDX50_ENST00000466265.1_Splice_Site	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CATAAAACAGGTAAGTCTTTT	0.373																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.e8+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							93.0	90.0	91.0					10																	70679738		2203	4300	6503	SO:0001630	splice_region_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70679738G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1239+1G>A	10.37:g.70679738G>A						DDX50_ENST00000466265.1_Splice_Site		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			8	1346	+								Q5VX37|Q8WV76|Q9BWI8	Splice_Site	SNP	ENST00000373585.3	37		CCDS7283.1	.	.	.	.	.	.	.	.	.	.	g	17.68	3.448704	0.63178	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1453	0.65347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX50	70349744	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.225000	0.95219	2.056000	0.61249	0.484000	0.47621	.		0.373	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	Intron	105	492	0	0	0	1	0	105	492				
CASKIN1	57524	broad.mit.edu	37	16	2236819	2236819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236819C>T	ENST00000343516.6	-	10	1029	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	313	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGATGCTGCTCGAGGACCTGG	0.672																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(937-939)Gag>Aag		CASK interacting protein 1							30.0	34.0	32.0					16																	2236819		2012	4155	6167	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2236819C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.937G>A	16.37:g.2236819C>T	ENSP00000345436:p.Glu313Lys						p.E313K	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			10	1029	-			313			SH3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.937G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559699	0.86335	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.19394	2.15	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.38585	0.1046	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14839	-1.0458	9	0.66056	D	0.02	-29.7749	16.6164	0.84917	0.0:1.0:0.0:0.0	.	313	Q8WXD9	CSKI1_HUMAN	K	313;142	ENSP00000345436:E313K	ENSP00000345436:E313K	E	-	1	0	CASKIN1	2176820	1.000000	0.71417	0.955000	0.39395	0.615000	0.37417	7.606000	0.82863	2.577000	0.86979	0.563000	0.77884	GAG		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		53	286	0	0	0	1	0	53	286				
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37881332G>A	ENST00000269571.5	+	21	2683	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		6	Substitution - Missense(6)	p.V842I(6)	large_intestine(5)|stomach(1)	NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2434-2436)Gta>Ata		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						70.0	61.0	64.0					17																	37881332		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881332G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2524G>A	17.37:g.37881332G>A	ENSP00000269571:p.Val842Ile	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I	p.V812I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	23	2944	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	842			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2434G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	ERBB2	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			50	210	0	0	0	1	0	50	210				
ZNF267	10308	broad.mit.edu	37	16	31927755	31927755	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927755T>C	ENST00000300870.10	+	4	2394	c.2185T>C	c.(2185-2187)Tca>Cca	p.S729P		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	729					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TAACTCTAGGTCATACCTCAT	0.388																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(2185-2187)Tca>Cca		zinc finger protein 267							69.0	71.0	70.0					16																	31927755		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927755T>C	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2185T>C	16.37:g.31927755T>C	ENSP00000300870:p.Ser729Pro					RP11-170L3.8_ENST00000575471.1_RNA	p.S729P	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	2394	+			729					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.2185T>C	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	10.84	1.463235	0.26248	.	.	ENSG00000185947	ENST00000300870	T	0.32988	1.43	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	M	0.76002	2.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40079	-0.9582	9	0.72032	D	0.01	.	2.6393	0.04966	0.0:0.3837:0.0:0.6163	.	729	Q14586	ZN267_HUMAN	P	729	ENSP00000300870:S729P	ENSP00000300870:S729P	S	+	1	0	ZNF267	31835256	0.000000	0.05858	0.215000	0.23724	0.201000	0.24016	-0.131000	0.10482	0.413000	0.25759	0.402000	0.26972	TCA		0.388	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		35	248	0	0	0	1	0	35	248				
ACTB	60	broad.mit.edu	37	7	5568999	5568999	+	Silent	SNP	G	G	T	rs142116324	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5568999G>T	ENST00000331789.5	-	3	347	c.156C>A	c.(154-156)tcC>tcA	p.S52S	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	52					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGCCCACATAGGAATCCTTCT	0.612																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(154-156)tcC>tcA		actin, beta							68.0	72.0	71.0					7																	5568999		2203	4300	6503	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568999G>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.156C>A	7.37:g.5568999G>T							p.S52S	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	347	-		Ovarian(82;0.0606)	52					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.156C>A	CCDS5341.1																																																																																				0.612	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		81	536	1	0	1.68737e-39	1	2.04089e-39	81	536				
WDR90	197335	broad.mit.edu	37	16	702503	702503	+	Missense_Mutation	SNP	G	G	A	rs200520816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:702503G>A	ENST00000293879.4	+	10	1090	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	WDR90_ENST00000549091.1_Missense_Mutation_p.V364I|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	364										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCTCAAGGGCGTCATCGGCTT	0.637																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1090-1092)Gtc>Atc		WD repeat domain 90							58.0	67.0	64.0					16																	702503		2067	4208	6275	SO:0001583	missense	197335							g.chr16:702503G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1090G>A	16.37:g.702503G>A	ENSP00000293879:p.Val364Ile					WDR90_ENST00000293879.4_Missense_Mutation_p.V364I	p.V364I	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			10	1182	+		Hepatocellular(780;0.0218)	364					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1090G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	5.575	0.290873	0.10567	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01335	5.0;5.0	4.75	1.72	0.24424	.	0.207319	0.30473	U	0.009546	T	0.01061	0.0035	L	0.39245	1.2	0.35522	D	0.801523	B;B;B	0.32781	0.015;0.016;0.384	B;B;B	0.19148	0.012;0.005;0.024	T	0.52320	-0.8591	10	0.08381	T	0.77	.	7.5264	0.27658	0.3546:0.0:0.6454:0.0	.	364;365;364	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	I	364	ENSP00000448122:V364I;ENSP00000293879:V364I	ENSP00000293879:V364I	V	+	1	0	WDR90	642504	0.884000	0.30299	0.383000	0.26132	0.644000	0.38419	2.143000	0.42187	0.458000	0.26988	-0.221000	0.12465	GTC		0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		72	318	0	0	0	1	0	72	318				
MEIS2	4212	broad.mit.edu	37	15	37385817	37385817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37385817C>T	ENST00000561208.1	-	6	1022	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000338564.5_Missense_Mutation_p.E202K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K			O14770	MEIS2_HUMAN	Meis homeobox 2	202	Ser/Thr-rich.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCTGAAAGTTCTTCATGATCT	0.448																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(604-606)Gaa>Aaa		Meis homeobox 2							156.0	137.0	144.0					15																	37385817		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37385817C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.604G>A	15.37:g.37385817C>T	ENSP00000453793:p.Glu202Lys					MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000561208.1_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K	p.E202K	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	7	1050	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	202			Ser/Thr-rich.		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.604G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637900	0.67130	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.31730	0.032;0.337;0.228;0.03;0.089;0.142;0.159;0.03	B;B;B;B;B;B;B;B	0.35278	0.044;0.199;0.071;0.062;0.075;0.044;0.06;0.044	T	0.02743	-1.1116	10	0.42905	T	0.14	-0.1362	20.5568	0.99304	0.0:1.0:0.0:0.0	.	189;202;202;202;202;56;114;189	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	K	202;202;202;202;202;189;189;114;56	ENSP00000326296:E202K;ENSP00000341400:E202K;ENSP00000372216:E202K;ENSP00000404185:E202K;ENSP00000391887:E202K;ENSP00000339549:E189K;ENSP00000380745:E114K;ENSP00000219869:E56K	ENSP00000219869:E56K	E	-	1	0	MEIS2	35173109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAA		0.448	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		54	302	0	0	0	1	0	54	302				
GPR157	80045	broad.mit.edu	37	1	9188913	9188913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9188913C>T	ENST00000377411.4	-	1	316	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GPR157_ENST00000414642.2_Silent_p.L58L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGGCCGAGAGCAGGTCGGCCA	0.721																																						ENST00000377411.4																			0				lung(4)|prostate(1)	5						c.(172-174)ctG>ctA		G protein-coupled receptor 157							11.0	11.0	11.0					1																	9188913		2182	4280	6462	SO:0001819	synonymous_variant	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9188913C>T	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.174G>A	1.37:g.9188913C>T						GPR157_ENST00000414642.2_Silent_p.L58L	p.L58L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	1	316	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	58					A2A334|Q8WWB8|Q9HA73	Silent	SNP	ENST00000377411.4	37	c.174G>A	CCDS100.2																																																																																				0.721	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		10	45	0	0	0	1	0	10	45				
NAA15	80155	broad.mit.edu	37	4	140270711	140270711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140270711G>T	ENST00000296543.5	+	7	1110	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.G263C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	263					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTATTACAAAGGCTTGGAAAA	0.343																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(787-789)Ggc>Tgc		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							49.0	46.0	47.0					4																	140270711		1797	4075	5872	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140270711G>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.787G>T	4.37:g.140270711G>T	ENSP00000296543:p.Gly263Cys					NAA15_ENST00000398947.1_Missense_Mutation_p.G263C|NAA15_ENST00000480277.2_3'UTR	p.G263C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			7	1110	+			263					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.787G>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766563	0.90020	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.53857	0.6;0.6	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.113779	0.64402	D	0.000011	T	0.74176	0.3682	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	D	0.64687	0.928	T	0.76063	-0.3096	10	0.62326	D	0.03	-5.8465	19.4586	0.94906	0.0:0.0:1.0:0.0	.	263	Q9BXJ9	NAA15_HUMAN	C	263;137;263	ENSP00000296543:G263C;ENSP00000381920:G263C	ENSP00000296543:G263C	G	+	1	0	NAA15	140490161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.112000	0.94314	2.828000	0.97474	0.655000	0.94253	GGC		0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		8	172	1	0	5.18039e-06	1	5.32547e-06	8	172				
LRCH2	57631	broad.mit.edu	37	X	114404869	114404869	+	Missense_Mutation	SNP	T	T	G	rs374160829		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:114404869T>G	ENST00000317135.8	-	6	1021	c.991A>C	c.(991-993)Aca>Cca	p.T331P	LRCH2_ENST00000538422.1_Missense_Mutation_p.T331P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	331										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TACCTGTCTGTGAGAGGCTGT	0.333																																						ENST00000317135.8																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						c.(991-993)Aca>Cca		leucine-rich repeats and calponin homology (CH) domain containing 2							103.0	91.0	95.0					X																	114404869		1893	4100	5993	SO:0001583	missense	57631							g.chrX:114404869T>G	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.991A>C	X.37:g.114404869T>G	ENSP00000325091:p.Thr331Pro					LRCH2_ENST00000538422.1_Missense_Mutation_p.T331P	p.T331P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN			6	1021	-			331					F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	c.991A>C	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.693341	0.68386	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.00902	5.6;5.56	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.987;0.966	T	0.64407	-0.6415	10	0.27082	T	0.32	-13.9619	13.7074	0.62648	0.0:0.0:0.0:1.0	.	331;331	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	P	331	ENSP00000325091:T331P;ENSP00000439366:T331P	ENSP00000325091:T331P	T	-	1	0	LRCH2	114311125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.662000	0.83803	1.917000	0.55516	0.481000	0.45027	ACA		0.333	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		8	37	0	0	0	1	0	8	37				
SERTAD2	9792	broad.mit.edu	37	2	64863365	64863365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863365C>A	ENST00000313349.3	-	2	938	c.641G>T	c.(640-642)aGc>aTc	p.S214I	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	214					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						ATCTGCGCGGCTCTCTTGAGG	0.567																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(640-642)aGc>aTc		SERTA domain containing 2							66.0	69.0	68.0					2																	64863365		2203	4300	6503	SO:0001583	missense	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863365C>A	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.641G>T	2.37:g.64863365C>A	ENSP00000326933:p.Ser214Ile						p.S214I	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	938	-			214					Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	c.641G>T	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883156	0.17467	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.63	5.63	0.86233	.	0.574803	0.20833	N	0.084854	T	0.46367	0.1389	L	0.27053	0.805	0.51482	D	0.999923	B	0.34103	0.437	B	0.23852	0.049	T	0.48917	-0.8992	9	0.56958	D	0.05	0.7719	19.6719	0.95915	0.0:1.0:0.0:0.0	.	214	Q14140	SRTD2_HUMAN	I	214	.	ENSP00000326933:S214I	S	-	2	0	SERTAD2	64716869	0.996000	0.38824	0.995000	0.50966	0.285000	0.27093	2.509000	0.45459	2.647000	0.89833	0.655000	0.94253	AGC		0.567	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		105	443	1	0	2.68928e-46	1	3.30219e-46	105	443				
FKBP15	23307	broad.mit.edu	37	9	115962165	115962165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115962165C>T	ENST00000238256.3	-	7	694	c.577G>A	c.(577-579)Gct>Act	p.A193T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	193					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.A218T(1)|p.A193T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACTTCTACAGCAGGGCCGTCT	0.502																																						ENST00000238256.3																			2	Substitution - Missense(2)	p.A218T(1)|p.A193T(1)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(577-579)Gct>Act		FK506 binding protein 15, 133kDa							50.0	50.0	50.0					9																	115962165		1985	4161	6146	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115962165C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.577G>A	9.37:g.115962165C>T	ENSP00000238256:p.Ala193Thr						p.A193T	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			7	694	-			193					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.577G>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615398	0.87359	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	D;D;D	0.85484	-1.99;-1.99;-1.99	5.95	3.72	0.42706	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	.	.	.	.	D	0.83926	0.5360	L	0.37507	1.11	0.32142	N	0.585427	P;D;P	0.57571	0.57;0.98;0.783	B;P;P	0.53689	0.444;0.732;0.661	D	0.84920	0.0853	9	0.66056	D	0.02	-8.9134	9.7822	0.40656	0.1546:0.7608:0.0:0.0846	.	193;193;193	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	T	218;193;218	ENSP00000416158:A218T;ENSP00000238256:A193T;ENSP00000415733:A218T	ENSP00000238256:A193T	A	-	1	0	FKBP15	115001986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	1.444000	0.47605	0.655000	0.94253	GCT		0.502	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		16	87	0	0	0	1	0	16	87				
FDFT1	2222	broad.mit.edu	37	8	11687884	11687884	+	Silent	SNP	G	G	A	rs150271048	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11687884G>A	ENST00000220584.4	+	6	1056	c.834G>A	c.(832-834)tcG>tcA	p.S278S	FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Silent_p.S235S|FDFT1_ENST00000538689.1_Silent_p.S167S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000528643.1_Silent_p.S193S	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	278					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCTACCTTTCGAGACTCAGAA	0.502													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		19056	0.0		0.0	False		,,,				2504	0.0					ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(832-834)tcG>tcA		farnesyl-diphosphate farnesyltransferase 1		G		2,4404	4.2+/-10.8	0,2,2201	175.0	152.0	160.0		834	-11.3	0.0	8	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous	FDFT1	NM_004462.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		278/418	11687884	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11687884G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.834G>A	8.37:g.11687884G>A						FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000528643.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Silent_p.S235S|FDFT1_ENST00000538689.1_Silent_p.S167S	p.S278S	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	6	1056	+	all_epithelial(15;0.234)		278					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Silent	SNP	ENST00000220584.4	37	c.834G>A	CCDS5985.1																																																																																				0.502	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			101	413	0	0	0	1	0	101	413				
BRD4	23476	broad.mit.edu	37	19	15375447	15375447	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15375447G>A	ENST00000263377.2	-	6	1201	c.980C>T	c.(979-981)cCt>cTt	p.P327L	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Missense_Mutation_p.P327L|BRD4_ENST00000360016.5_Missense_Mutation_p.P327L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	327					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGTTTCACAGGCCGGCTGCT	0.652			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(979-981)cCt>cTt		bromodomain containing 4							57.0	50.0	52.0					19																	15375447		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15375447G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.980C>T	19.37:g.15375447G>A	ENSP00000263377:p.Pro327Leu		OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	702	BRD4_ENST00000360016.5_Missense_Mutation_p.P327L|BRD4_ENST00000371835.4_Missense_Mutation_p.P327L	p.P327L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		6	1201	-			327					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.980C>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739736	0.89573	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.37058	1.22;2.93;2.88	5.45	5.45	0.79879	Bromodomain (1);	0.000000	0.64402	D	0.000008	T	0.58090	0.2098	M	0.85542	2.76	0.80722	D	1	D;D;D	0.65815	0.995;0.968;0.987	P;P;P	0.57425	0.82;0.8;0.755	T	0.64487	-0.6396	10	0.66056	D	0.02	-8.4213	13.0701	0.59057	0.0:0.0:0.839:0.161	.	327;327;327	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	327	ENSP00000263377:P327L;ENSP00000360901:P327L;ENSP00000353112:P327L	ENSP00000263377:P327L	P	-	2	0	BRD4	15236447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.791000	0.85805	2.556000	0.86216	0.563000	0.77884	CCT		0.652	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		21	505	0	0	0	1	0	21	505				
KMT2B	9757	broad.mit.edu	37	19	36220146	36220146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36220146C>T	ENST00000222270.7	+	22	4866	c.4866C>T	c.(4864-4866)aaC>aaT	p.N1622N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.N1622N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1622					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCGAGGAGAACGACGGCTCCC	0.637																																						ENST00000222270.7																			0											c.(4864-4866)aaC>aaT									46.0	47.0	47.0					19																	36220146		2136	4243	6379	SO:0001819	synonymous_variant	0							g.chr19:36220146C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4866C>T	19.37:g.36220146C>T						WBP7_ENST00000420124.1_Silent_p.N1622N|KMT2B_ENST00000607650.1_RNA	p.N1622N	NM_014727.1	NP_055542.1					22	4866	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4866C>T	CCDS46055.1																																																																																				0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		18	58	0	0	0	1	0	18	58				
KIAA1244	57221	broad.mit.edu	37	6	138634943	138634943	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138634943A>C	ENST00000251691.4	+	26	4378	c.4212A>C	c.(4210-4212)aaA>aaC	p.K1404N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TATTGGCCAAAATCTACAAAA	0.373																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(4210-4212)aaA>aaC		KIAA1244							50.0	50.0	50.0					6																	138634943		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138634943A>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4212A>C	6.37:g.138634943A>C	ENSP00000251691:p.Lys1404Asn						p.K1404N	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	26	4378	+	Breast(32;0.135)		1404						Missense_Mutation	SNP	ENST00000251691.4	37	c.4212A>C	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026643	0.54683	.	.	ENSG00000112379	ENST00000251691	T	0.18810	2.19	5.03	1.44	0.22558	.	0.108147	0.64402	D	0.000009	T	0.16642	0.0400	L	0.44542	1.39	0.45439	D	0.998411	D	0.67145	0.996	P	0.62740	0.906	T	0.02320	-1.1177	10	0.33940	T	0.23	-28.0464	8.1894	0.31359	0.7768:0.0:0.2232:0.0	.	1404	Q5TH69	BIG3_HUMAN	N	1404	ENSP00000251691:K1404N	ENSP00000251691:K1404N	K	+	3	2	KIAA1244	138676636	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.455000	0.35190	0.022000	0.15160	0.533000	0.62120	AAA		0.373	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		21	149	0	0	0	1	0	21	149				
CD209	30835	broad.mit.edu	37	19	7810795	7810795	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7810795C>T	ENST00000315599.7	-	4	379	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000593660.1_Silent_p.K95K|CD209_ENST00000315591.8_Silent_p.K95K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	119	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCAGCTTAGATTTCT	0.562																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(355-357)aaG>aaA		CD209 molecule							98.0	101.0	100.0					19																	7810795		2203	4298	6501	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810795C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.357G>A	19.37:g.7810795C>T						CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000593660.1_Silent_p.K95K|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000315591.8_Silent_p.K95K	p.K119K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	379	-			119			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.357G>A	CCDS12186.1																																																																																				0.562	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		41	853	0	0	0	1	0	41	853				
OR1S1	219959	broad.mit.edu	37	11	57982253	57982253	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982253A>G	ENST00000309433.6	+	1	37	c.37A>G	c.(37-39)Aat>Gat	p.N13D		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GATCGGCAGAAATATGCATCA	0.403																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(37-39)Aat>Gat		olfactory receptor, family 1, subfamily S, member 1							158.0	143.0	148.0					11																	57982253		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982253A>G	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.37A>G	11.37:g.57982253A>G	ENSP00000311688:p.Asn13Asp						p.N13D	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	37	+		Breast(21;0.0589)	13					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.37A>G	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	0.164	-1.078147	0.01903	.	.	ENSG00000172774	ENST00000309433	T	0.57752	0.38	3.4	0.804	0.18697	.	0.345842	0.20757	N	0.086256	T	0.27349	0.0671	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08046	-1.0741	10	0.30854	T	0.27	.	3.6178	0.08083	0.691:0.0:0.1169:0.1921	.	13	Q8NH92	OR1S1_HUMAN	D	13	ENSP00000311688:N13D	ENSP00000311688:N13D	N	+	1	0	OR1S1	57738829	0.015000	0.18098	0.978000	0.43139	0.170000	0.22686	1.714000	0.37961	0.361000	0.24292	0.392000	0.25879	AAT		0.403	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		71	405	0	0	0	1	0	71	405				
FREM2	341640	broad.mit.edu	37	13	39262336	39262336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262336G>T	ENST00000280481.7	+	1	1071	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	285					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTGGAGCTGCGTTCAC	0.607																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(853-855)gaG>gaT		FRAS1 related extracellular matrix protein 2							59.0	58.0	58.0					13																	39262336		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262336G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.855G>T	13.37:g.39262336G>T	ENSP00000280481:p.Glu285Asp						p.E285D	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1071	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	285					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.855G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526850	0.64860	.	.	ENSG00000150893	ENST00000280481	T	0.20881	2.04	5.94	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.41710	1.295	0.58432	D	0.999999	D	0.67145	0.996	D	0.66979	0.948	T	0.02009	-1.1230	10	0.44086	T	0.13	.	12.566	0.56310	0.1343:0.0:0.8657:0.0	.	285	Q5SZK8	FREM2_HUMAN	D	285	ENSP00000280481:E285D	ENSP00000280481:E285D	E	+	3	2	FREM2	38160336	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	2.943000	0.49026	0.856000	0.35383	0.561000	0.74099	GAG		0.607	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		77	374	1	0	1.15098e-32	1	1.36004e-32	77	374				
CCDC88C	440193	broad.mit.edu	37	14	91780320	91780320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91780320G>A	ENST00000389857.6	-	15	1926	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	614					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCAGCTGCCGCTTCTCAAAC	0.612																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1840-1842)Cgg>Tgg		coiled-coil domain containing 88C							74.0	75.0	75.0					14																	91780320		2109	4226	6335	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91780320G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1840C>T	14.37:g.91780320G>A	ENSP00000374507:p.Arg614Trp						p.R614W	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	1926	-		all_cancers(154;0.0468)	614					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1840C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659039	0.67586	.	.	ENSG00000015133	ENST00000389857	T	0.31510	1.49	5.46	0.828	0.18841	.	0.630024	0.13382	U	0.392022	T	0.34337	0.0894	L	0.42245	1.32	0.80722	D	1	D	0.65815	0.995	P	0.48571	0.582	T	0.39901	-0.9591	10	0.87932	D	0	-10.4006	14.9305	0.70911	0.0:0.0:0.2364:0.7636	.	614	Q9P219	DAPLE_HUMAN	W	614	ENSP00000374507:R614W	ENSP00000374507:R614W	R	-	1	2	CCDC88C	90850073	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.998000	0.40796	0.224000	0.20940	0.491000	0.48974	CGG		0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		50	180	0	0	0	1	0	50	180				
GSTP1	2950	broad.mit.edu	37	11	67354023	67354023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67354023C>T	ENST00000398606.3	+	7	857	c.608C>T	c.(607-609)cCc>cTc	p.P203L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	203	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GTGAACCTCCCCATCAATGGC	0.582																																						ENST00000398606.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9						c.(607-609)cCc>cTc		glutathione S-transferase pi 1	Ethacrynic acid(DB00903)|Glutathione(DB00143)						32.0	33.0	33.0					11																	67354023		1964	4136	6100	SO:0001583	missense	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67354023C>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.608C>T	11.37:g.67354023C>T	ENSP00000381607:p.Pro203Leu					GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L	p.P203L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN			7	857	+			203			GST C-terminal.		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	c.608C>T	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646131	0.47258	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.09073	3.02;3.02	5.3	4.39	0.52855	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.148823	0.44902	D	0.000416	T	0.24928	0.0605	M	0.75264	2.295	0.48135	D	0.999596	D	0.71674	0.998	D	0.66847	0.947	T	0.36841	-0.9731	9	0.87932	D	0	-47.9802	9.8953	0.41316	0.0:0.9049:0.0:0.0951	.	203	P09211	GSTP1_HUMAN	L	203;167	ENSP00000381607:P203L;ENSP00000381604:P167L	ENSP00000381604:P167L	P	+	2	0	GSTP1	67110599	1.000000	0.71417	0.954000	0.39281	0.087000	0.18053	3.640000	0.54350	1.228000	0.43614	-0.251000	0.11542	CCC		0.582	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		41	157	0	0	0	1	0	41	157				
GNA11	2767	broad.mit.edu	37	19	3119349	3119349	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3119349A>C	ENST00000078429.4	+	6	1123	c.881A>C	c.(880-882)gAg>gCg	p.E294A	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	294					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TACTTCCCCGAGTTCGATGGT	0.637			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(880-882)gAg>gCg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							70.0	60.0	64.0					19																	3119349		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3119349A>C	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.881A>C	19.37:g.3119349A>C	ENSP00000078429:p.Glu294Ala					GNA11_ENST00000586180.1_3'UTR	p.E294A	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	6	1123	+		Hepatocellular(1079;0.137)	294					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.881A>C	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.483197	0.44147	.	.	ENSG00000088256	ENST00000078429	D	0.89617	-2.54	4.12	4.12	0.48240	.	0.344132	0.26915	N	0.021849	D	0.88919	0.6568	M	0.73430	2.235	0.58432	D	0.99999	B	0.13145	0.007	B	0.29077	0.098	D	0.87515	0.2442	10	0.87932	D	0	.	11.9657	0.53033	1.0:0.0:0.0:0.0	.	294	P29992	GNA11_HUMAN	A	294	ENSP00000078429:E294A	ENSP00000078429:E294A	E	+	2	0	GNA11	3070349	1.000000	0.71417	0.999000	0.59377	0.747000	0.42532	4.525000	0.60559	1.511000	0.48818	0.391000	0.25812	GAG		0.637	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		77	327	0	0	0	1	0	77	327				
C19orf66	55337	broad.mit.edu	37	19	10200693	10200693	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10200693C>A	ENST00000253110.11	+	5	652	c.354C>A	c.(352-354)gtC>gtA	p.V118V	C19orf66_ENST00000397881.3_Silent_p.V67V|C19orf66_ENST00000591813.1_Silent_p.V118V|CTD-2240E14.4_ENST00000589622.1_RNA	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	118										large_intestine(3)|skin(1)	4						GCGACCACGTCTGGTGGCGCC	0.582																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.(199-201)gtC>gtA		chromosome 19 open reading frame 66							37.0	40.0	39.0					19																	10200693		2145	4244	6389	SO:0001819	synonymous_variant	55337							g.chr19:10200693C>A		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.354C>A	19.37:g.10200693C>A						CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Silent_p.V118V|C19orf66_ENST00000591813.1_Silent_p.V118V	p.V67V			Q9NUL5	CS066_HUMAN			5	678	+			118					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Silent	SNP	ENST00000253110.11	37	c.201C>A	CCDS45957.1																																																																																				0.582	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381		8	48	1	0	0.000157383	1	0.000159814	8	48				
CFAP46	54777	broad.mit.edu	37	10	134743101	134743101	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134743101C>T	ENST00000368585.3	-	9	1412	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGACCGAAGCCCTGGGGGCC	0.537																																						ENST00000368585.3																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(1072-1074)ggG>ggA		tetratricopeptide repeat domain 40							112.0	100.0	104.0					10																	134743101		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134743101C>T																												ENST00000368585.3:c.1074G>A	10.37:g.134743101C>T						TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron	p.G358G			Q8IYW2	CJ092_HUMAN			9	1412	-			0						Silent	SNP	ENST00000368585.3	37	c.1074G>A																																																																																					0.537	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			79	427	0	0	0	1	0	79	427				
CARD9	64170	broad.mit.edu	37	9	139264220	139264220	+	Silent	SNP	G	G	A	rs371007197		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139264220G>A	ENST00000371732.5	-	7	1224	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CARD9_ENST00000371734.3_Silent_p.V353V|CARD9_ENST00000315908.7_Silent_p.V353V|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	353					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAATGGCGACCTCCTCCA	0.627																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1057-1059)gtC>gtT		caspase recruitment domain family, member 9		G	,	2,4388	4.2+/-10.8	0,2,2193	106.0	70.0	82.0		1059,1059	-7.8	0.0	9		82	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6491	AA,AG,GG		0.0,0.0456,0.0154	,	353/537,353/493	139264220	2,12984	2195	4298	6493	SO:0001819	synonymous_variant	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139264220G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1059C>T	9.37:g.139264220G>A						CARD9_ENST00000315908.7_Silent_p.V353V|CARD9_ENST00000371734.3_Silent_p.V353V	p.V353V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	7	1224	-		Myeloproliferative disorder(178;0.0511)	353					Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	c.1059C>T	CCDS6997.1																																																																																				0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		16	78	0	0	0	1	0	16	78				
SYNE1	23345	broad.mit.edu	37	6	152647525	152647525	+	Missense_Mutation	SNP	C	C	T	rs184360743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152647525C>T	ENST00000367255.5	-	79	15800	c.15199G>A	c.(15199-15201)Ggc>Agc	p.G5067S	SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5067					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCTTTGCCGGTTGGCTTG	0.522										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17639	0.001		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15199-15201)Ggc>Agc		spectrin repeat containing, nuclear envelope 1							88.0	89.0	89.0					6																	152647525		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647525C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15199G>A	6.37:g.152647525C>T	ENSP00000356224:p.Gly5067Ser	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S|SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S	p.G5067S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15800	-		Ovarian(120;0.0955)	5067					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15199G>A	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.01	3.527783	0.64860	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.39	5.56	5.56	0.83823	.	0.231634	0.30244	N	0.010061	T	0.27798	0.0684	L	0.50333	1.59	0.80722	D	1	D;P;P;D	0.58268	0.982;0.935;0.935;0.961	P;B;B;B	0.46076	0.503;0.238;0.238;0.418	T	0.02269	-1.1185	10	0.18710	T	0.47	.	19.5248	0.95199	0.0:1.0:0.0:0.0	.	5067;5067;5067;4996	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	5067;4996;5067;4996;4814	ENSP00000356224:G5067S;ENSP00000396024:G4996S;ENSP00000265368:G5067S;ENSP00000390975:G4996S;ENSP00000341887:G4814S	ENSP00000265368:G5067S	G	-	1	0	SYNE1	152689218	0.994000	0.37717	0.514000	0.27761	0.811000	0.45836	6.047000	0.71038	2.621000	0.88768	0.591000	0.81541	GGC		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		74	288	0	0	0	1	0	74	288				
ZBTB21	49854	broad.mit.edu	37	21	43411416	43411416	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411416A>C	ENST00000310826.5	-	3	2972	c.2789T>G	c.(2788-2790)cTt>cGt	p.L930R	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L729R|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L930R|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L930R	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	930					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										AGAGCACAGAAGCTCCTGGTG	0.512																																						ENST00000310826.5																			0											c.(2788-2790)cTt>cGt		zinc finger and BTB domain containing 21							80.0	74.0	76.0					21																	43411416		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411416A>C	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2789T>G	21.37:g.43411416A>C	ENSP00000308759:p.Leu930Arg					ZBTB21_ENST00000398511.3_Missense_Mutation_p.L930R|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L930R|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L729R	p.L930R	NM_001098402.1	NP_001091872.1					3	2972	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2789T>G	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094100	0.76870	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.87	5.87	0.94306	Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000008	T	0.51873	0.1700	N	0.10945	0.07	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62364	-0.6870	10	0.87932	D	0	-19.9548	16.2813	0.82687	1.0:0.0:0.0:0.0	.	729;930	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	R	729;930;930;930	ENSP00000381517:L729R;ENSP00000308759:L930R;ENSP00000381512:L930R;ENSP00000381523:L930R	ENSP00000308759:L930R	L	-	2	0	ZNF295	42284485	1.000000	0.71417	0.977000	0.42913	0.964000	0.63967	8.717000	0.91425	2.244000	0.73946	0.533000	0.62120	CTT		0.512	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		40	340	0	0	0	1	0	40	340				
GPX6	257202	broad.mit.edu	37	6	28472207	28472207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28472207G>A	ENST00000474923.1	-	4	471	c.428C>T	c.(427-429)tCc>tTc	p.S143F	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Silent_p.V176V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGATATCATGGACCTTCATGG	0.512																																						ENST00000474923.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(427-429)tCc>tTc		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						66.0	66.0	66.0					6																	28472207		1888	4128	6016	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28472207G>A		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.428C>T	6.37:g.28472207G>A	ENSP00000417364:p.Ser143Phe					GPX6_ENST00000361902.1_Silent_p.V176V	p.S143F			P59796	GPX6_HUMAN			4	471	-			0					Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37	c.428C>T		.	.	.	.	.	.	.	.	.	.	G	14.30	2.494134	0.44352	.	.	ENSG00000198704	ENST00000474923	T	0.13307	2.6	4.31	1.47	0.22746	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05903	-1.0857	6	0.72032	D	0.01	.	5.873	0.18814	0.1769:0.0:0.6685:0.1546	.	.	.	.	F	143	ENSP00000417364:S143F	ENSP00000417364:S143F	S	-	2	0	GPX6	28580186	0.998000	0.40836	0.996000	0.52242	0.981000	0.71138	1.669000	0.37492	0.300000	0.22699	0.591000	0.81541	TCC		0.512	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			10	268	0	0	0	1	0	10	268				
EXOSC5	56915	broad.mit.edu	37	19	41892608	41892608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41892608G>A	ENST00000221233.4	-	6	788	c.638C>T	c.(637-639)gCc>gTc	p.A213V	CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	213					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGCGGCCTGGGCCGCAGCCAG	0.652																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(637-639)gCc>gTc		exosome component 5							26.0	24.0	25.0					19																	41892608		2199	4299	6498	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41892608G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.638C>T	19.37:g.41892608G>A	ENSP00000221233:p.Ala213Val					EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.A213V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			6	788	-			213					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.638C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677115	0.88445	.	.	ENSG00000077348	ENST00000221233	T	0.62788	0.0	5.08	5.08	0.68730	Exoribonuclease, phosphorolytic domain 2 (2);	0.106321	0.64402	D	0.000005	T	0.76673	0.4020	M	0.76328	2.33	0.47778	D	0.999518	D	0.76494	0.999	P	0.62740	0.906	T	0.77755	-0.2469	10	0.49607	T	0.09	-27.7716	16.008	0.80377	0.0:0.0:1.0:0.0	.	213	Q9NQT4	EXOS5_HUMAN	V	213	ENSP00000221233:A213V	ENSP00000221233:A213V	A	-	2	0	EXOSC5	46584448	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	4.673000	0.61604	2.623000	0.88846	0.655000	0.94253	GCC		0.652	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		5	55	0	0	0	1	0	5	55				
PDE8A	5151	broad.mit.edu	37	15	85652283	85652283	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85652283G>A	ENST00000310298.4	+	13	1288		c.e13-1		PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000339708.5_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site			O60658	PDE8A_HUMAN	phosphodiesterase 8A						cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TGTTTCTACAGATAATCAGAC	0.348																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.e13-1		phosphodiesterase 8A							95.0	94.0	95.0					15																	85652283		2203	4299	6502	SO:0001630	splice_region_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85652283G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1037-1G>A	15.37:g.85652283G>A						PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site|PDE8A_ENST00000339708.5_Splice_Site				O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		13	1288	+	Colorectal(223;0.227)							B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Splice_Site	SNP	ENST00000310298.4	37		CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457121	0.63401	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6931	0.62559	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE8A	83453287	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	8.295000	0.89937	2.074000	0.62210	0.514000	0.50259	.		0.348	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	Intron	47	243	0	0	0	1	0	47	243				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262207	39262207	+	Nonsense_Mutation	SNP	C	C	A	rs558806526		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39262207C>A	ENST00000391415.1	+	1	624	c.567C>A	c.(565-567)tgC>tgA	p.C189*		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	189					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACACCACTTGCTATCGCCCAA	0.647																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(565-567)tgC>tgA		keratin associated protein 4-9							53.0	57.0	56.0					17																	39262207		692	1590	2282	SO:0001587	stop_gained	100132386					keratin filament		g.chr17:39262207C>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.567C>A	17.37:g.39262207C>A	ENSP00000375234:p.Cys189*						p.C189*	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	624	+			189						Nonsense_Mutation	SNP	ENST00000391415.1	37	c.567C>A	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	14.08	2.429188	0.43122	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	.	.	.	2.64	2.64	0.31445	.	0.553736	0.13448	U	0.387151	.	.	.	.	.	.	0.49130	D	0.999756	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0487	0.47874	0.0:1.0:0.0:0.0	.	.	.	.	X	177;189;180	.	ENSP00000334461:C180X	C	+	3	2	KRTAP4-9	36515733	0.999000	0.42202	1.000000	0.80357	0.350000	0.29205	1.061000	0.30542	1.489000	0.48450	0.194000	0.17425	TGC		0.647	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		7	50	1	0	0.0293803	1	0.0294705	7	50				
PTPRB	5787	broad.mit.edu	37	12	70986244	70986244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986244C>A	ENST00000261266.5	-	5	973	c.944G>T	c.(943-945)gGa>gTa	p.G315V	PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V|PTPRB_ENST00000334414.6_Missense_Mutation_p.G533V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	315	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCACATTTCCAGGAGGTCT	0.413																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1597-1599)gGa>gTa		protein tyrosine phosphatase, receptor type, B							64.0	59.0	60.0					12																	70986244		1852	4099	5951	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70986244C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.944G>T	12.37:g.70986244C>A	ENSP00000261266:p.Gly315Val					PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000261266.5_Missense_Mutation_p.G315V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V	p.G533V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		7	1642	-	Renal(347;0.236)		315			Fibronectin type-III 6.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1598G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589837	0.86851	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.29549	-1.0008	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	315;315;412;533;532;533;315;533	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	V	533;315;533;533;315;315;315;532;412	ENSP00000334928:G533V;ENSP00000393028:G315V;ENSP00000448058:G533V;ENSP00000438927:G315V;ENSP00000447302:G315V;ENSP00000261266:G315V;ENSP00000448349:G532V;ENSP00000446982:G412V	ENSP00000261266:G315V	G	-	2	0	PTPRB	69272511	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.677000	0.68142	2.832000	0.97577	0.655000	0.94253	GGA		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			11	193	1	0	0.010729	1	0.0107869	11	193				
PAPLN	89932	broad.mit.edu	37	14	73721304	73721304	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73721304G>A	ENST00000554301.1	+	12	1549	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PAPLN_ENST00000427855.1_Silent_p.A462A|PAPLN_ENST00000381166.3_Silent_p.A462A|PAPLN_ENST00000340738.5_Silent_p.A435A|PAPLN_ENST00000555445.1_Silent_p.A462A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	462	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATACCGCAGCGTGCTCCTTGG	0.612																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1384-1386)gcG>gcA		papilin, proteoglycan-like sulfated glycoprotein							177.0	166.0	170.0					14																	73721304		2203	4300	6503	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73721304G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1386G>A	14.37:g.73721304G>A						PAPLN_ENST00000555445.1_Silent_p.A462A|PAPLN_ENST00000554301.1_Silent_p.A462A|PAPLN_ENST00000381166.3_Silent_p.A462A|PAPLN_ENST00000340738.5_Silent_p.A435A	p.A462A			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	13	1488	+			462			TSP type-1 4.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1386G>A																																																																																					0.612	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		127	609	0	0	0	1	0	127	609				
CYP2A7	1549	broad.mit.edu	37	19	41388043	41388043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41388043G>A	ENST00000301146.4	-	1	614	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	25						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTCCTCTGCTGCCAGACAGAC	0.572																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(73-75)Cag>Tag		cytochrome P450, family 2, subfamily A, polypeptide 7							88.0	74.0	79.0					19																	41388043		2203	4300	6503	SO:0001587	stop_gained	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41388043G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.73C>T	19.37:g.41388043G>A	ENSP00000301146:p.Gln25*					CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*|CTC-490E21.12_ENST00000601627.1_Intron	p.Q25*	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	614	-			25					Q13121	Nonsense_Mutation	SNP	ENST00000301146.4	37	c.73C>T	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	36	5.970539	0.97156	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	.	.	.	2.24	-3.48	0.04739	.	1.246510	0.05976	U	0.643226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3712	0.11249	0.1619:0.0:0.3802:0.4578	.	.	.	.	X	25	.	ENSP00000291764:Q25X	Q	-	1	0	CYP2A7	46079883	0.000000	0.05858	0.002000	0.10522	0.198000	0.23893	-0.902000	0.04088	-0.457000	0.07033	0.184000	0.17185	CAG		0.572	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		50	227	0	0	0	1	0	50	227				
UQCRB	7381	broad.mit.edu	37	8	97244142	97244142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97244142C>T	ENST00000287022.5	-	3	221	c.118G>A	c.(118-120)Gag>Aag	p.E40K	UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K|UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000518406.1_Missense_Mutation_p.E40K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	40					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TCTTCATCCTCGTATATTGTA	0.363																																						ENST00000287022.5																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(118-120)Gag>Aag		ubiquinol-cytochrome c reductase binding protein							97.0	91.0	93.0					8																	97244142		2203	4300	6503	SO:0001583	missense	7381				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr8:97244142C>T	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.118G>A	8.37:g.97244142C>T	ENSP00000287022:p.Glu40Lys					UQCRB_ENST00000518406.1_Missense_Mutation_p.E40K|UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K	p.E40K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN			3	221	-	Breast(36;5.16e-05)		40					E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	c.118G>A	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500402	0.64298	.	.	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.4	5.4	0.78164	.	0.098626	0.64402	D	0.000002	T	0.61451	0.2348	H	0.95574	3.69	0.80722	D	1	P	0.37688	0.605	B	0.32211	0.142	T	0.73968	-0.3815	10	0.66056	D	0.02	-11.4134	17.3502	0.87321	0.0:1.0:0.0:0.0	.	40	P14927	QCR7_HUMAN	K	40;8;40;40	ENSP00000287022:E40K;ENSP00000429787:E8K;ENSP00000430494:E40K;ENSP00000430560:E40K	ENSP00000287022:E40K	E	-	1	0	UQCRB	97313318	1.000000	0.71417	0.071000	0.20095	0.185000	0.23345	7.522000	0.81844	2.534000	0.85438	0.591000	0.81541	GAG		0.363	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		45	250	0	0	0	1	0	45	250				
GRIA1	2890	broad.mit.edu	37	5	152873617	152873617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:152873617C>T	ENST00000285900.5	+	2	555	c.212C>T	c.(211-213)aCc>aTc	p.T71I	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I|GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	71					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)	TTTGAGATGACCTATAGATGT	0.458																																						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.(211-213)aCc>aTc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						84.0	85.0	85.0					5																	152873617		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:152873617C>T		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.212C>T	5.37:g.152873617C>T	ENSP00000285900:p.Thr71Ile					GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I	p.T71I	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)		2	555	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	71					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.212C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437375	0.43224	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.26067	1.97;1.76;1.97;2.58;2.56;1.97;1.97	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.206078	0.49916	D	0.000127	T	0.44829	0.1312	L	0.50333	1.59	0.51767	D	0.999932	D;D;D;D;D;P	0.60575	0.988;0.988;0.985;0.988;0.985;0.936	P;P;P;P;P;P	0.61477	0.696;0.696;0.889;0.696;0.57;0.614	T	0.34527	-0.9825	10	0.87932	D	0	.	18.3214	0.90239	0.0:1.0:0.0:0.0	.	81;81;71;81;71;71	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	I	71;71;71;71;2;2;81;81	ENSP00000285900:T71I;ENSP00000427920:T71I;ENSP00000339343:T71I;ENSP00000427864:T2I;ENSP00000442108:T2I;ENSP00000428994:T81I;ENSP00000415569:T81I	ENSP00000285900:T71I	T	+	2	0	GRIA1	152853810	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.037000	0.70956	2.548000	0.85928	0.655000	0.94253	ACC		0.458	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			14	367	0	0	0	1	0	14	367				
DHX15	1665	broad.mit.edu	37	4	24543646	24543646	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24543646C>T	ENST00000336812.4	-	8	1492		c.e8-1		DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GATTGTAGACCTATTGGAATT	0.408																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.e8-1		DEAH (Asp-Glu-Ala-His) box helicase 15							70.0	70.0	70.0					4																	24543646		2203	4300	6503	SO:0001630	splice_region_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24543646C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1336-1G>A	4.37:g.24543646C>T								NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			8	1492	-		Breast(46;0.0503)						Q9NQT7	Splice_Site	SNP	ENST00000336812.4	37		CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275687	0.59649	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX15	24152744	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	.		0.408	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358	Intron	40	199	0	0	0	1	0	40	199				
LNX1	84708	broad.mit.edu	37	4	54343147	54343147	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54343147A>G	ENST00000263925.7	-	9	1979	c.1665T>C	c.(1663-1665)ggT>ggC	p.G555G	LNX1_ENST00000306888.2_Splice_Site_p.G459G|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	555	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAAAATGTCACCTGATGGCC	0.483																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.e8-1		ligand of numb-protein X 1, E3 ubiquitin protein ligase							103.0	103.0	103.0					4																	54343147		2203	4300	6503	SO:0001630	splice_region_variant	84708					cytoplasm	zinc ion binding	g.chr4:54343147A>G	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1664-1T>C	4.37:g.54343147A>G						FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Splice_Site_p.G555_splice	p.G459_splice	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		8	1628	-	all_neural(26;0.153)		555			PDZ 2.		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Splice_Site	SNP	ENST00000263925.7	37	c.1375_splice	CCDS47057.1																																																																																				0.483	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		Silent	95	424	0	0	0	1	0	95	424				
FBN1	2200	broad.mit.edu	37	15	48787772	48787772	+	Silent	SNP	G	G	A	rs193921256		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48787772G>A	ENST00000316623.5	-	21	2888	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	811	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		C -> Y (in MFS). {ECO:0000269|PubMed:21542060}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACTTGATTCGCATTCATCAA	0.383																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM042037	FBN1	M		c.(2431-2433)tgC>tgT		fibrillin 1							168.0	182.0	178.0					15																	48787772		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48787772G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2433C>T	15.37:g.48787772G>A							p.C811C	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	21	2888	-		all_lung(180;0.00279)	811			EGF-like 13; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.2433C>T	CCDS32232.1																																																																																				0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			138	727	0	0	0	1	0	138	727				
PTGDR	5729	broad.mit.edu	37	14	52735160	52735160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735160C>A	ENST00000306051.2	+	1	730	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L210M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	210					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATGGCGCTGCTGGTCCTCGC	0.667																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(628-630)Ctg>Atg		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						80.0	65.0	70.0					14																	52735160		2203	4300	6503	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735160C>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.628C>A	14.37:g.52735160C>A	ENSP00000303424:p.Leu210Met					PTGDR_ENST00000553372.1_Missense_Mutation_p.L210M	p.L210M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	730	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		210					G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.628C>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779967	0.49891	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.37915	1.17;1.17	4.76	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	N	0.001694	T	0.49864	0.1582	M	0.64676	1.99	0.33085	D	0.537101	D	0.76494	0.999	D	0.75484	0.986	T	0.57785	-0.7751	10	0.49607	T	0.09	-7.4508	6.8445	0.23980	0.0:0.5646:0.2759:0.1596	.	210	Q13258	PD2R_HUMAN	M	210	ENSP00000303424:L210M;ENSP00000452408:L210M	ENSP00000303424:L210M	L	+	1	2	PTGDR	51804910	1.000000	0.71417	0.992000	0.48379	0.781000	0.44180	2.025000	0.41059	0.270000	0.21984	-0.302000	0.09304	CTG		0.667	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		68	335	1	0	1.02487e-32	1	1.21166e-32	68	335				
DENND4B	9909	broad.mit.edu	37	1	153907339	153907339	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153907339G>T	ENST00000361217.4	-	18	3088	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	890	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTCTCTCAAGGGCTGGCGGA	0.632																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2668-2670)ccC>ccA		DENN/MADD domain containing 4B							62.0	73.0	70.0					1																	153907339		2193	4287	6480	SO:0001819	synonymous_variant	9909							g.chr1:153907339G>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2670C>A	1.37:g.153907339G>T							p.P890P	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3088	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		890			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2670C>A	CCDS44228.1																																																																																				0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		100	547	1	0	1.32035e-51	1	1.6395e-51	100	547				
KLK14	43847	broad.mit.edu	37	19	51582124	51582124	+	Missense_Mutation	SNP	G	G	A	rs541191047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51582124G>A	ENST00000156499.2	-	6	817	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KLK14_ENST00000391802.1_Missense_Mutation_p.T200M			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CATGCCAGGCGTGATGGTTCT	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.001				GBM(117;2161 2172 2448 22911)	ENST00000391802.1																			0				kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11						c.(598-600)aCg>aTg		kallikrein-related peptidase 14							189.0	193.0	192.0					19																	51582124		1988	4175	6163	SO:0001583	missense	43847				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	g.chr19:51582124G>A	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.599C>T	19.37:g.51582124G>A	ENSP00000156499:p.Thr200Met					KLK14_ENST00000156499.2_Missense_Mutation_p.T200M	p.T200M	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	6	817	-		all_neural(266;0.0199)	200			Peptidase S1.		A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	c.599C>T	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528327	0.44969	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.91068	-2.78;-2.78	4.49	4.49	0.54785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95771	0.8624	M	0.90252	3.1	0.37125	D	0.900994	D	0.89917	1.0	D	0.71184	0.972	D	0.98452	1.0592	9	0.87932	D	0	.	14.7352	0.69412	0.0:0.0:1.0:0.0	.	200	Q9P0G3	KLK14_HUMAN	M	200	ENSP00000156499:T200M;ENSP00000375678:T200M	ENSP00000156499:T200M	T	-	2	0	KLK14	56273936	1.000000	0.71417	0.228000	0.23943	0.021000	0.10359	4.476000	0.60216	2.079000	0.62486	0.394000	0.25966	ACG		0.587	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		44	1267	0	0	0	1	0	44	1267				
ROS1	6098	broad.mit.edu	37	6	117609778	117609778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117609778C>A	ENST00000368508.3	-	43	7119	c.6921G>T	c.(6919-6921)aaG>aaT	p.K2307N	ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2307					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATGTGGTTCCTTCTCTTCTT	0.478			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(6919-6921)aaG>aaT		c-ros oncogene 1 , receptor tyrosine kinase							113.0	112.0	112.0					6																	117609778		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117609778C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6921G>T	6.37:g.117609778C>A	ENSP00000357494:p.Lys2307Asn					ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	p.K2307N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	43	7119	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2307					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6921G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781434	0.49891	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.74002	-0.8;-0.8	4.5	3.64	0.41730	.	0.463960	0.18299	N	0.145467	T	0.45115	0.1326	L	0.27053	0.805	0.30118	N	0.805934	P	0.41313	0.745	B	0.38803	0.282	T	0.41520	-0.9504	10	0.72032	D	0.01	.	9.7257	0.40330	0.0:0.9041:0.0:0.0959	.	2307	P08922	ROS1_HUMAN	N	2307;2301	ENSP00000357494:K2307N;ENSP00000357493:K2301N	ENSP00000357493:K2301N	K	-	3	2	ROS1	117716471	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.783000	0.26802	1.118000	0.41863	0.563000	0.77884	AAG		0.478	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			56	257	1	0	7.77372e-23	1	8.81276e-23	56	257				
FAT3	120114	broad.mit.edu	37	11	92531437	92531437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92531437C>A	ENST00000298047.6	+	9	5275	c.5258C>A	c.(5257-5259)gCt>gAt	p.A1753D	FAT3_ENST00000525166.1_Missense_Mutation_p.A1603D|FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1753	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTCCAATGCTACAGTCAAT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5257-5259)gCt>gAt		FAT atypical cadherin 3							64.0	62.0	62.0					11																	92531437		1936	4128	6064	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531437C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5258C>A	11.37:g.92531437C>A	ENSP00000298047:p.Ala1753Asp	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D|FAT3_ENST00000525166.1_Missense_Mutation_p.A1603D	p.A1753D			Q8TDW7	FAT3_HUMAN			9	5275	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1753			Cadherin 15.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5258C>A		.	.	.	.	.	.	.	.	.	.	C	19.24	3.789713	0.70337	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.56611	0.45;0.45;0.45	5.93	3.93	0.45458	.	.	.	.	.	T	0.69753	0.3146	H	0.94222	3.51	0.80722	D	1	P	0.51147	0.942	P	0.48795	0.59	T	0.77178	-0.2683	9	0.72032	D	0.01	.	12.0978	0.53765	0.0:0.894:0.0:0.106	.	1753	Q8TDW7-3	.	D	1753;1753;1603	ENSP00000298047:A1753D;ENSP00000387040:A1753D;ENSP00000432586:A1603D	ENSP00000298047:A1753D	A	+	2	0	FAT3	92171085	1.000000	0.71417	0.969000	0.41365	0.809000	0.45718	2.661000	0.46758	0.711000	0.32018	0.591000	0.81541	GCT		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	227	1	0	3.07112e-06	1	3.16074e-06	10	227				
DOPEY2	9980	broad.mit.edu	37	21	37620829	37620829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37620829C>T	ENST00000399151.3	+	21	5046	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1654					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTAGGGGCCACGAAGGGATCC	0.448																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(4960-4962)aCg>aTg		dopey family member 2							86.0	79.0	82.0					21																	37620829		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37620829C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4961C>T	21.37:g.37620829C>T	ENSP00000382104:p.Thr1654Met						p.T1654M	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			21	5046	+			1654					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4961C>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.089986	0.07053	.	.	ENSG00000142197	ENST00000399151	T	0.12774	2.65	5.46	3.66	0.41972	.	0.301120	0.41294	N	0.000907	T	0.14184	0.0343	L	0.57536	1.79	0.09310	N	0.999994	B;B	0.22851	0.076;0.046	B;B	0.20577	0.03;0.013	T	0.16453	-1.0402	10	0.49607	T	0.09	-11.577	8.6367	0.33953	0.0:0.769:0.0:0.231	.	1654;1654	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	M	1654	ENSP00000382104:T1654M	ENSP00000382104:T1654M	T	+	2	0	DOPEY2	36542699	0.856000	0.29760	0.029000	0.17559	0.033000	0.12548	1.698000	0.37794	0.697000	0.31718	0.650000	0.86243	ACG		0.448	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		60	223	0	0	0	1	0	60	223				
DHRS3	9249	broad.mit.edu	37	1	12638749	12638749	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12638749A>C	ENST00000376223.2	-	4	1078	c.695T>G	c.(694-696)gTc>gGc	p.V232G	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	232					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CACTGACCTGACTCTCATGCC	0.582																																						ENST00000376223.2																			0				cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9						c.(694-696)gTc>gGc		dehydrogenase/reductase (SDR family) member 3	Vitamin A(DB00162)						59.0	53.0	55.0					1																	12638749		2203	4300	6503	SO:0001583	missense	9249				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12638749A>C	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.695T>G	1.37:g.12638749A>C	ENSP00000365397:p.Val232Gly						p.V232G	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	4	1078	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	232					B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	c.695T>G	CCDS146.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630471	0.67015	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;T	0.89196	-2.48;-1.4	5.53	5.53	0.82687	NAD(P)-binding domain (1);	0.165909	0.52532	D	0.000074	D	0.85691	0.5755	L	0.47716	1.5	0.80722	D	1	B	0.27559	0.181	B	0.20767	0.031	D	0.84054	0.0371	10	0.62326	D	0.03	.	15.6559	0.77133	1.0:0.0:0.0:0.0	.	232	O75911	DHRS3_HUMAN	G	232;147	ENSP00000365397:V232G;ENSP00000387903:V147G	ENSP00000365397:V232G	V	-	2	0	DHRS3	12561336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.952000	0.93031	2.091000	0.63221	0.482000	0.46254	GTC		0.582	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		22	258	0	0	0	1	0	22	258				
LATS2	26524	broad.mit.edu	37	13	21549149	21549149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21549149G>A	ENST00000382592.4	-	8	3532	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AAGAACCTTCGGAAGGTGAAT	0.512																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(3127-3129)Cga>Tga		large tumor suppressor kinase 2							200.0	181.0	187.0					13																	21549149		2203	4300	6503	SO:0001587	stop_gained	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21549149G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3127C>T	13.37:g.21549149G>A	ENSP00000372035:p.Arg1043*					LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	p.R1043*	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	8	3532	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1043			AGC-kinase C-terminal.			Nonsense_Mutation	SNP	ENST00000382592.4	37	c.3127C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	40	7.991726	0.98599	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	6.07	5.16	0.70880	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1398	0.89636	0.0:0.0:0.8719:0.1281	.	.	.	.	X	1043	.	ENSP00000372035:R1043X	R	-	1	2	LATS2	20447149	1.000000	0.71417	0.998000	0.56505	0.048000	0.14542	6.238000	0.72350	2.885000	0.99019	0.655000	0.94253	CGA		0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			97	551	0	0	0	1	0	97	551				
CFAP69	79846	broad.mit.edu	37	7	89915597	89915597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89915597A>C	ENST00000389297.4	+	14	1791	c.1540A>C	c.(1540-1542)Atc>Ctc	p.I514L	C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L|C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		514										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATACCAGGAATCTTTAAAAA	0.299																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1540-1542)Atc>Ctc		chromosome 7 open reading frame 63							68.0	67.0	67.0					7																	89915597		1787	4058	5845	SO:0001583	missense	79846						binding	g.chr7:89915597A>C																												ENST00000389297.4:c.1540A>C	7.37:g.89915597A>C	ENSP00000373948:p.Ile514Leu					C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L|C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L	p.I514L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			14	1791	+			514					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1540A>C	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491633	0.44249	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.93	2.46	0.29980	Armadillo-type fold (1);	0.101637	0.64402	D	0.000004	T	0.31327	0.0793	M	0.75264	2.295	0.38967	D	0.958667	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.15870	0.014;0.004;0.002	T	0.15378	-1.0439	10	0.66056	D	0.02	-0.162	7.2354	0.26067	0.7758:0.1445:0.0797:0.0	.	496;514;514	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	L	514;514;496;397;97	ENSP00000373948:I514L;ENSP00000321753:I514L;ENSP00000419549:I496L;ENSP00000392365:I397L;ENSP00000391571:I97L	ENSP00000321753:I514L	I	+	1	0	C7orf63	89753533	1.000000	0.71417	0.914000	0.36105	0.990000	0.78478	3.217000	0.51184	0.329000	0.23460	0.460000	0.39030	ATC		0.299	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			24	231	0	0	0	1	0	24	231				
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125316257G>A	ENST00000373688.2	+	1	867	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(808-810)gGg>gAg		olfactory receptor, family 1, subfamily N, member 2							227.0	230.0	229.0					9																	125316257		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316257G>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.809G>A	9.37:g.125316257G>A	ENSP00000362792:p.Gly270Glu						p.G270E	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	867	+			270					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.809G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511782	0.44660	.	.	ENSG00000171501	ENST00000373688	T	0.39056	1.1	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.138036	0.32819	N	0.005604	T	0.73321	0.3572	H	0.96489	3.83	0.09310	N	1	D	0.61697	0.99	D	0.74348	0.983	T	0.70543	-0.4843	10	0.72032	D	0.01	.	13.188	0.59693	0.0:0.0:0.8393:0.1607	.	270	Q8NGR9	OR1N2_HUMAN	E	270	ENSP00000362792:G270E	ENSP00000362792:G270E	G	+	2	0	OR1N2	124356078	0.000000	0.05858	0.212000	0.23672	0.842000	0.47809	-0.121000	0.10643	1.148000	0.42385	0.644000	0.83932	GGG		0.473	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			118	496	0	0	0	1	0	118	496				
PRKAA1	5562	broad.mit.edu	37	5	40769539	40769539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40769539G>A	ENST00000397128.2	-	5	583	c.575C>T	c.(574-576)gCa>gTa	p.A192V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V|PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TACTTCTGGTGCAGCATAGTT	0.368																																						ENST00000397128.2																			0				breast(1)	1						c.(574-576)gCa>gTa		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						161.0	154.0	157.0					5																	40769539		1855	4116	5971	SO:0001583	missense	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40769539G>A		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.575C>T	5.37:g.40769539G>A	ENSP00000380317:p.Ala192Val					PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V|PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V	p.A192V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			5	583	-			192			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	c.575C>T	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785121	0.90282	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	T;T;T	0.53423	0.62;0.62;0.62	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	H	0.99182	4.46	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.64144	0.922;0.919	D	0.89003	0.3423	10	0.87932	D	0	-19.9302	20.8794	0.99867	0.0:0.0:1.0:0.0	.	192;207	Q13131;Q13131-2	AAPK1_HUMAN;.	V	192;207;183	ENSP00000380317:A192V;ENSP00000346148:A207V;ENSP00000296800:A183V	ENSP00000296800:A183V	A	-	2	0	AC008810.1	40805296	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCA		0.368	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		18	464	0	0	0	1	0	18	464				
DHX57	90957	broad.mit.edu	37	2	39095428	39095428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39095428G>A	ENST00000295373.6	-	2	246	c.120C>T	c.(118-120)ggC>ggT	p.G40G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	40	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				caccaccaccgccaccgccac	0.542																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(118-120)ggC>ggT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							69.0	72.0	71.0					2																	39095428		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095428G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.120C>T	2.37:g.39095428G>A							p.G40G	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	246	-		all_hematologic(82;0.248)	40			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.120C>T	CCDS1800.1																																																																																				0.542	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		93	578	0	0	0	1	0	93	578				
C17orf64	124773	broad.mit.edu	37	17	58506770	58506770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58506770C>T	ENST00000269127.4	+	5	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	159										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGCTGGCCGACCGGGAAGACA	0.612																																						ENST00000269127.4																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(475-477)gaC>gaT		chromosome 17 open reading frame 64							42.0	43.0	43.0					17																	58506770		2203	4300	6503	SO:0001819	synonymous_variant	124773							g.chr17:58506770C>T	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.477C>T	17.37:g.58506770C>T							p.D159D	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)		5	561	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		159					Q8IY87	Silent	SNP	ENST00000269127.4	37	c.477C>T	CCDS32698.2																																																																																				0.612	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		52	186	0	0	0	1	0	52	186				
VPS4B	9525	broad.mit.edu	37	18	61058275	61058275	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61058275G>T	ENST00000238497.5	-	11	1471	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	423					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						ATTGACTGTAGGTTTTGTGTT	0.353																																						ENST00000238497.5																			0				breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1267-1269)cCt>cAt		vacuolar protein sorting 4 homolog B (S. cerevisiae)							128.0	119.0	122.0					18																	61058275		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61058275G>T	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1268C>A	18.37:g.61058275G>T	ENSP00000238497:p.Pro423His						p.P423H	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN			11	1471	-			423					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.1268C>A	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007448	0.93287	.	.	ENSG00000119541	ENST00000238497	D	0.95377	-3.69	5.78	5.78	0.91487	Vps4 oligomerisation, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	-6.5659	20.0203	0.97492	0.0:0.0:1.0:0.0	.	423	O75351	VPS4B_HUMAN	H	423	ENSP00000238497:P423H	ENSP00000238497:P423H	P	-	2	0	VPS4B	59209255	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	9.835000	0.99442	2.730000	0.93505	0.655000	0.94253	CCT		0.353	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		34	166	1	0	2.5098e-30	1	2.94304e-30	34	166				
INSRR	3645	broad.mit.edu	37	1	156819222	156819222	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156819222C>T	ENST00000368195.3	-	6	1656	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	420					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTGTAGGTTCTGGTTGTCCA	0.622																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1258-1260)caG>caA		insulin receptor-related receptor							75.0	76.0	75.0					1																	156819222		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156819222C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1260G>A	1.37:g.156819222C>T						NTRK1_ENST00000392302.2_Intron	p.Q420Q	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			6	1656	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		420					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1260G>A	CCDS1160.1																																																																																				0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		28	610	0	0	0	1	0	28	610				
POLRMT	5442	broad.mit.edu	37	19	629762	629762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629762C>T	ENST00000588649.2	-	3	684	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	200					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCAGCTTCCCAGGGGCCT	0.701																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(598-600)ggG>ggA		polymerase (RNA) mitochondrial (DNA directed)							6.0	7.0	6.0					19																	629762		2057	4033	6090	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:629762C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.600G>A	19.37:g.629762C>T							p.G200G	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	684	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	200					O60370	Silent	SNP	ENST00000588649.2	37	c.600G>A	CCDS12036.1																																																																																				0.701	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		22	94	0	0	0	1	0	22	94				
FDX1L	112812	broad.mit.edu	37	19	10426620	10426620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10426620G>T	ENST00000393708.3	-	1	71	c.53C>A	c.(52-54)gCt>gAt	p.A18D	CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000494368.1_Intron|FDX1L_ENST00000541276.1_Missense_Mutation_p.A21D|FDX1L_ENST00000492239.1_5'Flank|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A18D	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	18					oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCCCCTGGCAGCCTGCAGTAG	0.667																																						ENST00000541276.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(61-63)gCt>gAt		ferredoxin 1-like							20.0	22.0	21.0					19																	10426620		2201	4297	6498	SO:0001583	missense	112812				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding	g.chr19:10426620G>T	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.53C>A	19.37:g.10426620G>T	ENSP00000377311:p.Ala18Asp					CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000393708.3_Missense_Mutation_p.A18D|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A18D|FDX1L_ENST00000494368.1_Intron	p.A21D			Q6P4F2	ADXL_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)		1	65	-			18					Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.62C>A	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516593	0.44763	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.96	1.4	0.22301	.	0.586463	0.17006	N	0.190700	T	0.24198	0.0586	L	0.27053	0.805	0.24098	N	0.995884	P	0.38195	0.622	B	0.38803	0.282	T	0.11767	-1.0574	9	0.72032	D	0.01	-12.6227	7.0513	0.25075	0.3305:0.0:0.6695:0.0	.	18	Q6P4F2	ADXL_HUMAN	D	21;18	.	ENSP00000341665:A18D	A	-	2	0	FDX1L	10287620	0.003000	0.15002	0.033000	0.17914	0.004000	0.04260	1.150000	0.31639	0.420000	0.25954	0.462000	0.41574	GCT		0.667	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			33	131	1	0	8.4185e-14	1	9.11178e-14	33	131				
FAM155A	728215	broad.mit.edu	37	13	108518818	108518818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518818C>T	ENST00000375915.2	-	1	265	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	43						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGAGAGATGCCAGAGACAGT	0.562																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(127-129)Gca>Aca		family with sequence similarity 155, member A							145.0	155.0	152.0					13																	108518818		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518818C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.127G>A	13.37:g.108518818C>T	ENSP00000365080:p.Ala43Thr						p.A43T	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	265	-			43					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.127G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719839	0.89205	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.50333	1.59	0.53688	D	0.999971	D	0.76494	0.999	D	0.80764	0.994	T	0.77874	-0.2425	9	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	43	B1AL88	F155A_HUMAN	T	43	.	ENSP00000365080:A43T	A	-	1	0	FAM155A	107316819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.390000	0.81377	0.650000	0.86243	GCA		0.562	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		165	906	0	0	0	1	0	165	906				
ACACB	32	broad.mit.edu	37	12	109604757	109604757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109604757G>A	ENST00000338432.7	+	3	864	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ACACB_ENST00000377854.5_Missense_Mutation_p.E249K|ACACB_ENST00000377848.3_Missense_Mutation_p.E249K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	249					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTCTCCCGCTGAGTTTGTCAC	0.612																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(745-747)Gag>Aag		acetyl-CoA carboxylase beta	Biotin(DB00121)						82.0	75.0	77.0					12																	109604757		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109604757G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.745G>A	12.37:g.109604757G>A	ENSP00000341044:p.Glu249Lys					ACACB_ENST00000377848.3_Missense_Mutation_p.E249K|ACACB_ENST00000377854.5_Missense_Mutation_p.E249K	p.E249K			O00763	ACACB_HUMAN			3	864	+			249					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.745G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794786	0.96952	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.17370	2.28;2.28;2.28	5.55	5.55	0.83447	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.86953	2.85	0.80722	D	1	P	0.38922	0.651	P	0.45506	0.483	T	0.39742	-0.9599	10	0.87932	D	0	.	19.1106	0.93315	0.0:0.0:1.0:0.0	.	249	O00763	ACACB_HUMAN	K	249	ENSP00000341044:E249K;ENSP00000367079:E249K;ENSP00000367085:E249K	ENSP00000341044:E249K	E	+	1	0	ACACB	108089140	1.000000	0.71417	0.978000	0.43139	0.797000	0.45037	7.933000	0.87642	2.596000	0.87737	0.591000	0.81541	GAG		0.612	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		63	322	0	0	0	1	0	63	322				
FASN	2194	broad.mit.edu	37	17	80038697	80038697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80038697G>A	ENST00000306749.2	-	39	6915	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2233	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GAGTTGAGCCGCATCAGGGTG	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(6697-6699)Cgg>Tgg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						28.0	33.0	31.0					17																	80038697		2197	4293	6490	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80038697G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6697C>T	17.37:g.80038697G>A	ENSP00000304592:p.Arg2233Trp					FASN_ENST00000579758.1_Intron	p.R2233W	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		39	6915	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2233			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.6697C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798163	0.50208	.	.	ENSG00000169710	ENST00000306749	T	0.28666	1.6	4.8	2.71	0.32032	.	0.483859	0.20406	N	0.092959	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	P	0.52343	0.696	T	0.12192	-1.0557	10	0.72032	D	0.01	-30.9607	11.7206	0.51680	0.0:0.0:0.5351:0.4649	.	2233	P49327	FAS_HUMAN	W	2233	ENSP00000304592:R2233W	ENSP00000304592:R2233W	R	-	1	2	FASN	77631986	0.160000	0.22878	0.011000	0.14972	0.381000	0.30169	2.858000	0.48356	0.565000	0.29255	0.591000	0.81541	CGG		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		15	76	0	0	0	1	0	15	76				
MFSD7	84179	broad.mit.edu	37	4	676148	676148	+	Missense_Mutation	SNP	C	C	T	rs200436837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676148C>T	ENST00000404286.2	-	10	1297	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T|MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T|MFSD7_ENST00000503156.1_Intron|MFSD7_ENST00000322224.4_Missense_Mutation_p.A427T	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	428					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACAGGCCGGCCATCAGCAGC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		13888	0.001		0.0	False		,,,				2504	0.0					ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1279-1281)Gcc>Acc		major facilitator superfamily domain containing 7							10.0	12.0	11.0					4																	676148		2033	4033	6066	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:676148C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1282G>A	4.37:g.676148C>T	ENSP00000384616:p.Ala428Thr					MFSD7_ENST00000503156.1_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.A428T|MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T|MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T	p.A427T			Q6UXD7	MFSD7_HUMAN			10	1592	-			428					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1279G>A		4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	21.0	4.078096	0.76528	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.26	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);	0.061492	0.64402	D	0.000005	T	0.72542	0.3473	M	0.70275	2.135	0.80722	D	1	D;D;P;D	0.60575	0.988;0.988;0.454;0.976	P;P;B;P	0.61477	0.889;0.889;0.342;0.793	T	0.70260	-0.4921	10	0.28530	T	0.3	-16.8238	12.4069	0.55445	0.0:1.0:0.0:0.0	.	331;309;428;427	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	T	309;427;428;331	ENSP00000307545:A309T;ENSP00000320234:A427T;ENSP00000384616:A428T;ENSP00000423204:A331T	ENSP00000320234:A427T	A	-	1	0	MFSD7	666148	1.000000	0.71417	0.994000	0.49952	0.315000	0.28087	2.147000	0.42226	2.394000	0.81467	0.585000	0.79938	GCC		0.647	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		18	83	0	0	0	1	0	18	83				
SERPINB2	5055	broad.mit.edu	37	18	61564441	61564441	+	Silent	SNP	G	G	A	rs140108044	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61564441G>A	ENST00000299502.4	+	4	485	c.405G>A	c.(403-405)gcG>gcA	p.A135A	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Silent_p.A135A	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	135					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	AGAAGTCTGCGAGCTTCCGGG	0.413																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(403-405)gcG>gcA		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	G	,	2,4404	4.2+/-10.8	0,2,2201	107.0	108.0	108.0		405,405	-10.4	0.0	18	dbSNP_134	108	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous	SERPINB2	NM_001143818.1,NM_002575.2	,	0,13,6490	AA,AG,GG		0.1279,0.0454,0.1	,	135/416,135/416	61564441	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61564441G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.405G>A	18.37:g.61564441G>A						SERPINB2_ENST00000299502.4_Silent_p.A135A|SERPINB2_ENST00000482254.1_3'UTR	p.A135A	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			5	738	+		Esophageal squamous(42;0.131)	135					Q96E96	Silent	SNP	ENST00000299502.4	37	c.405G>A	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115323	0.20795	4.54E-4	0.001279	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.93	-10.4	0.00318	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.16541	-1.0399	4	.	.	.	.	6.6103	0.22747	0.1647:0.2401:0.5096:0.0857	.	.	.	.	K	12	.	.	E	+	1	0	SERPINB10	59715421	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-4.049000	0.00305	-1.747000	0.01333	-0.290000	0.09829	GAG		0.413	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		13	387	0	0	0	1	0	13	387				
TBX2	6909	broad.mit.edu	37	17	59482854	59482854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59482854C>T	ENST00000240328.3	+	6	1624	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	448					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						CAGGGCCTGGCGCCGCTGGTG	0.711																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1342-1344)gCg>gTg		T-box 2							7.0	9.0	8.0					17																	59482854		2143	4217	6360	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59482854C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1343C>T	17.37:g.59482854C>T	ENSP00000240328:p.Ala448Val					RP11-332H18.4_ENST00000592009.1_RNA	p.A448V	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			6	1624	+			448					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1343C>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920502	0.73213	.	.	ENSG00000121068	ENST00000240328	D	0.86865	-2.18	4.34	4.34	0.51931	.	0.175525	0.48767	D	0.000165	T	0.80341	0.4605	L	0.38838	1.175	0.50039	D	0.999841	B	0.30709	0.291	B	0.13407	0.009	T	0.79857	-0.1626	10	0.44086	T	0.13	.	15.5774	0.76404	0.0:1.0:0.0:0.0	.	448	Q13207	TBX2_HUMAN	V	448	ENSP00000240328:A448V	ENSP00000240328:A448V	A	+	2	0	TBX2	56837636	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.513000	0.53414	2.240000	0.73641	0.561000	0.74099	GCG		0.711	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		4	40	0	0	0	1	0	4	40				
UTP3	57050	broad.mit.edu	37	4	71555130	71555130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71555130C>T	ENST00000254803.2	+	1	935	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	246					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAGCTGGAGCCATTGTTAGA	0.438																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(736-738)Cca>Tca		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)							84.0	84.0	84.0					4																	71555130		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555130C>T	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.736C>T	4.37:g.71555130C>T	ENSP00000254803:p.Pro246Ser						p.P246S	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	935	+			246					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.736C>T	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367264	0.82463	.	.	ENSG00000132467	ENST00000254803	T	0.37584	1.19	5.44	5.44	0.79542	.	0.167126	0.53938	D	0.000054	T	0.64416	0.2596	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65183	-0.6230	10	0.45353	T	0.12	-28.2254	19.2714	0.94011	0.0:1.0:0.0:0.0	.	246	Q9NQZ2	SAS10_HUMAN	S	246	ENSP00000254803:P246S	ENSP00000254803:P246S	P	+	1	0	UTP3	71773994	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.389000	0.73199	2.542000	0.85734	0.603000	0.83216	CCA		0.438	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		78	359	0	0	0	1	0	78	359				
GOLGA6B	55889	broad.mit.edu	37	15	72953649	72953649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72953649G>T	ENST00000421285.3	+	8	609	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	203						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGTTACAGCAGACCATAAAGG	0.587																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(607-609)caG>caT		golgin A6 family, member B							62.0	81.0	74.0					15																	72953649		1481	2647	4128	SO:0001583	missense	55889							g.chr15:72953649G>T		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.609G>T	15.37:g.72953649G>T	ENSP00000408132:p.Gln203His						p.Q203H	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			8	609	+			203					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.609G>T	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	9.908	1.208805	0.22205	.	.	ENSG00000215186	ENST00000421285	T	0.22945	1.93	0.39	0.39	0.16275	.	.	.	.	.	T	0.35711	0.0941	L	0.50333	1.59	0.09310	N	1	D	0.54397	0.966	P	0.61592	0.891	T	0.12656	-1.0539	9	0.49607	T	0.09	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	203	A6NDN3	GOG6B_HUMAN	H	203	ENSP00000408132:Q203H	ENSP00000408132:Q203H	Q	+	3	2	GOLGA6B	70740703	0.805000	0.28982	0.008000	0.14137	0.007000	0.05969	2.996000	0.49449	0.472000	0.27344	0.134000	0.15878	CAG		0.587	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		56	1107	1	0	5.04308e-16	1	5.52873e-16	56	1107				
FOXJ3	22887	broad.mit.edu	37	1	42744089	42744089	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42744089G>T	ENST00000372572.1	-	5	610	c.299C>A	c.(298-300)aCt>aAt	p.T100N	FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	100					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCACTTAAAGTCATTTTCTT	0.358																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(298-300)aCt>aAt		forkhead box J3							131.0	130.0	130.0					1																	42744089		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42744089G>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.299C>A	1.37:g.42744089G>T	ENSP00000361653:p.Thr100Asn					FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N	p.T100N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			5	610	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	100					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.299C>A	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272096	0.80469	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.48	5.48	0.80851	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98459	1.0595	10	0.87932	D	0	.	16.8493	0.85989	0.0:0.0:1.0:0.0	.	100;100	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	N	100;100;100;100;100;100;57	ENSP00000361654:T100N;ENSP00000361653:T100N;ENSP00000354620:T100N;ENSP00000354449:T100N;ENSP00000439044:T100N;ENSP00000393408:T100N;ENSP00000403060:T57N	ENSP00000354620:T100N	T	-	2	0	FOXJ3	42516676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.574000	0.86865	0.455000	0.32223	ACT		0.358	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		43	398	1	0	5.20837e-25	1	5.9682e-25	43	398				
CHD8	57680	broad.mit.edu	37	14	21899168	21899168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21899168C>T	ENST00000557364.1	-	2	898	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.R212Q			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	212					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACACCTGGTCGAAGGGGTGT	0.572																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(634-636)cGa>cAa		chromodomain helicase DNA binding protein 8							45.0	41.0	42.0					14																	21899168		1568	3582	5150	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21899168C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.635G>A	14.37:g.21899168C>T	ENSP00000451601:p.Arg212Gln					CHD8_ENST00000557364.1_Missense_Mutation_p.R212Q|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron	p.R212Q	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	1	699	-	all_cancers(95;0.00121)		212					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.635G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315742	0.81469	.	.	ENSG00000100888	ENST00000399982;ENST00000557364	D;D	0.90004	-2.6;-2.6	5.86	5.86	0.93980	.	0.150379	0.28230	U	0.016120	D	0.85915	0.5808	N	0.24115	0.695	0.36061	D	0.841445	.	.	.	.	.	.	D	0.83981	0.0332	8	0.13470	T	0.59	-4.9624	18.9562	0.92659	0.0:1.0:0.0:0.0	.	.	.	.	Q	212	ENSP00000382863:R212Q;ENSP00000451601:R212Q	ENSP00000382863:R212Q	R	-	2	0	CHD8	20969008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.901000	0.63259	2.775000	0.95449	0.585000	0.79938	CGA		0.572	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		21	124	0	0	0	1	0	21	124				
PPP2R1B	5519	broad.mit.edu	37	11	111614190	111614190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111614190C>A	ENST00000527614.1	-	12	1529	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	488					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTGGGCCCACTCTGTACCAA	0.388																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1462-1464)gaG>gaT		protein phosphatase 2, regulatory subunit A, beta							166.0	152.0	157.0					11																	111614190		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111614190C>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1464G>T	11.37:g.111614190C>A	ENSP00000437193:p.Glu488Asp					PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D	p.E488D	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	12	1529	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	488					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.1464G>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860498	0.32884	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	6.02	-0.582	0.11709	Armadillo-like helical (1);Armadillo-type fold (1);	0.231591	0.45867	N	0.000338	T	0.15998	0.0385	N	0.20881	0.62	0.40696	D	0.982447	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.008;0.005;0.0;0.0;0.0;0.001	T	0.09443	-1.0674	10	0.19590	T	0.45	-8.1876	1.1121	0.01706	0.132:0.3117:0.2574:0.299	.	361;443;327;424;488;488	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	D	488;361;424;488;327;443;361	ENSP00000311344:E488D;ENSP00000410671:E424D;ENSP00000437193:E488D;ENSP00000415759:E327D;ENSP00000343317:E443D;ENSP00000376775:E361D	ENSP00000311344:E488D	E	-	3	2	PPP2R1B	111119400	0.976000	0.34144	0.996000	0.52242	0.998000	0.95712	0.166000	0.16583	-0.066000	0.12998	0.655000	0.94253	GAG		0.388	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		100	473	1	0	1.70349e-48	1	2.10302e-48	100	473				
CHST9	83539	broad.mit.edu	37	18	24496606	24496606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496606C>T	ENST00000284224.8	-	6	1226	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.A317T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	317					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTTCACAGGCATTTGGTCGA	0.398																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(949-951)Gcc>Acc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							154.0	147.0	149.0					18																	24496606		1879	4107	5986	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496606C>T	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.949G>A	18.37:g.24496606C>T	ENSP00000284224:p.Ala317Thr					CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.A317T|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	p.A317T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1226	-	all_lung(6;0.0145)|Ovarian(20;0.124)		317					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.949G>A	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805161	0.50315	.	.	ENSG00000154080	ENST00000284224	T	0.74209	-0.82	6.17	6.17	0.99709	.	0.245793	0.36134	N	0.002767	D	0.82360	0.5020	M	0.65498	2.005	0.80722	D	1	P	0.46912	0.886	P	0.51550	0.673	T	0.82374	-0.0489	10	0.72032	D	0.01	-4.0501	20.8794	0.99867	0.0:1.0:0.0:0.0	.	317	Q7L1S5	CHST9_HUMAN	T	317	ENSP00000284224:A317T	ENSP00000284224:A317T	A	-	1	0	CHST9	22750604	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.758000	0.62220	2.941000	0.99782	0.655000	0.94253	GCC		0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		165	772	0	0	0	1	0	165	772				
PHGDH	26227	broad.mit.edu	37	1	120277277	120277277	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120277277C>T	ENST00000369409.4	+	6	667	c.531C>T	c.(529-531)atC>atT	p.I177I	PHGDH_ENST00000369407.3_Silent_p.I143I	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	177					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		ATGACCCCATCATTTCCCCAG	0.463																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(427-429)atC>atT		phosphoglycerate dehydrogenase	NADH(DB00157)						207.0	206.0	206.0					1																	120277277		2203	4300	6503	SO:0001819	synonymous_variant	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120277277C>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.531C>T	1.37:g.120277277C>T						PHGDH_ENST00000369409.4_Silent_p.I177I	p.I143I			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	5	1936	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	177					B2RD08|Q5SZU3|Q9BQ01	Silent	SNP	ENST00000369409.4	37	c.429C>T	CCDS904.1																																																																																				0.463	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		123	1134	0	0	0	1	0	123	1134				
RYR2	6262	broad.mit.edu	37	1	237801716	237801716	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237801716C>T	ENST00000366574.2	+	45	7169	c.6852C>T	c.(6850-6852)ggC>ggT	p.G2284G	RYR2_ENST00000360064.6_Silent_p.G2282G|RYR2_ENST00000542537.1_Silent_p.G2268G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2284	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCTAAGGGCTATCCAGACA	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6850-6852)ggC>ggT		ryanodine receptor 2 (cardiac)							279.0	273.0	275.0					1																	237801716		1918	4137	6055	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237801716C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6852C>T	1.37:g.237801716C>T						RYR2_ENST00000360064.6_Silent_p.G2282G|RYR2_ENST00000542537.1_Silent_p.G2268G	p.G2284G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	7169	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2284			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6852C>T	CCDS55691.1																																																																																				0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		142	697	0	0	0	1	0	142	697				
MRPL38	64978	broad.mit.edu	37	17	73895245	73895245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73895245G>A	ENST00000309352.3	-	8	1537	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	RP11-552F3.10_ENST00000587267.1_RNA|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|MRPL38_ENST00000585475.1_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	334						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTACCCAGAAGCTGGTGGAAG	0.592																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(1000-1002)Ctt>Ttt		mitochondrial ribosomal protein L38							31.0	27.0	29.0					17																	73895245		2196	4289	6485	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895245G>A	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.1000C>T	17.37:g.73895245G>A	ENSP00000308275:p.Leu334Phe					MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|RP11-552F3.10_ENST00000587267.1_RNA	p.L334F	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1537	-			334					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.1000C>T	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049424	0.75846	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.23147	1.92;1.92	5.12	5.12	0.69794	.	0.281503	0.32533	N	0.005974	T	0.38957	0.1060	L	0.60455	1.87	0.42239	D	0.991927	D	0.65815	0.995	P	0.59221	0.854	T	0.18178	-1.0345	10	0.52906	T	0.07	-3.2241	8.862	0.35263	0.2108:0.0:0.7892:0.0	.	334	Q96DV4	RM38_HUMAN	F	334;150	ENSP00000308275:L334F;ENSP00000387085:L150F	ENSP00000308275:L334F	L	-	1	0	MRPL38	71406840	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	2.441000	0.44864	2.380000	0.81148	0.511000	0.50034	CTT		0.592	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		9	51	0	0	0	1	0	9	51				
MLXIP	22877	broad.mit.edu	37	12	122618405	122618405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122618405C>T	ENST00000319080.7	+	9	1735	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W|MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCCCCAGCCACGGTTAACTTT	0.612																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1603-1605)Cgg>Tgg		MLX interacting protein							23.0	27.0	26.0					12																	122618405		1982	4159	6141	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122618405C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1603C>T	12.37:g.122618405C>T	ENSP00000312834:p.Arg535Trp					MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W|MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W	p.R535W			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	9	1735	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	535						Missense_Mutation	SNP	ENST00000319080.7	37	c.1603C>T		.	.	.	.	.	.	.	.	.	.	C	15.05	2.717397	0.48622	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.81415	-1.49;-1.49;-1.49	5.09	2.06	0.26882	.	0.532223	0.19799	N	0.105790	T	0.78723	0.4328	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.992	P;P	0.50708	0.648;0.513	T	0.67987	-0.5528	9	0.38643	T	0.18	0.314	8.0807	0.30744	0.0:0.7134:0.0:0.2866	.	535;535	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	W	535;142;142;125	ENSP00000312834:R535W;ENSP00000440769:R142W;ENSP00000366236:R125W	ENSP00000312834:R535W	R	+	1	2	MLXIP	121184358	0.000000	0.05858	0.053000	0.19242	0.991000	0.79684	0.859000	0.27858	0.098000	0.17522	0.655000	0.94253	CGG		0.612	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		11	99	0	0	0	1	0	11	99				
ARHGEF11	9826	broad.mit.edu	37	1	156913859	156913859	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156913859G>T	ENST00000361409.2	-	31	3725	c.2983C>A	c.(2983-2985)Ctg>Atg	p.L995M	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L1035M	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	995	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGTAGCAGCACTAGGAGG	0.562																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(3103-3105)Ctg>Atg		Rho guanine nucleotide exchange factor (GEF) 11							111.0	101.0	105.0					1																	156913859		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156913859G>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2983C>A	1.37:g.156913859G>T	ENSP00000354644:p.Leu995Met					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.L995M|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|ARHGEF11_ENST00000487682.1_5'UTR	p.L1035M	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			32	4142	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		995			PH.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.3103C>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736121	0.69189	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67523	-0.27;-0.27;-0.27	5.18	1.18	0.20946	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.42682	D	0.000677	T	0.75649	0.3878	M	0.88775	2.98	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77208	-0.2672	10	0.72032	D	0.01	-11.0609	8.5813	0.33630	0.3803:0.0:0.6197:0.0	.	411;995;1035	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	1035;995;411	ENSP00000357177:L1035M;ENSP00000354644:L995M;ENSP00000313470:L411M	ENSP00000313470:L411M	L	-	1	2	ARHGEF11	155180483	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.756000	0.47549	0.345000	0.23873	0.561000	0.74099	CTG		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		76	446	1	0	3.30373e-36	1	3.95205e-36	76	446				
OBSCN	84033	broad.mit.edu	37	1	228459903	228459903	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459903C>A	ENST00000422127.1	+	18	5181				OBSCN_ENST00000570156.2_Silent_p.S1989S|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_Silent_p.S461S|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCGGCTCTCCTTCCATCTGC	0.652																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5965-5967)tcC>tcA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							36.0	37.0	37.0					1																	228459903		875	1991	2866	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228459903C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5138-1568C>A	1.37:g.228459903C>A						OBSCN_ENST00000359599.6_Silent_p.S461S|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron	p.S1989S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			20	6041	+		Prostate(94;0.0405)	970			Ig-like 20.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.5967C>A	CCDS58065.1																																																																																				0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		44	198	1	0	4.18559e-23	1	4.75231e-23	44	198				
PRMT7	54496	broad.mit.edu	37	16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	173	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATTGTGAGGCCGTGCCCCAC	0.463																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(517-519)gCc>gTc		protein arginine methyltransferase 7							63.0	58.0	60.0					16																	68373238		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68373238C>T	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.518C>T	16.37:g.68373238C>T	ENSP00000343103:p.Ala173Val					PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V	p.A173V			Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	8	1348	+		Ovarian(137;0.192)	173					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.518C>T	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886249	0.51908	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.32530	0.975	0.80722	D	1	P;D;B;D	0.76494	0.725;0.999;0.04;0.984	P;D;B;D	0.77557	0.618;0.99;0.023;0.913	T	0.06144	-1.0843	10	0.02654	T	1	-10.0304	13.0255	0.58812	0.0:0.9217:0.0:0.0783	.	123;99;173;173	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	V	123;123;99;173	ENSP00000414716:A123V;ENSP00000409324:A123V;ENSP00000345775:A99V;ENSP00000343103:A173V	ENSP00000343103:A173V	A	+	2	0	PRMT7	66930739	1.000000	0.71417	0.987000	0.45799	0.584000	0.36387	5.604000	0.67626	1.575000	0.49775	0.655000	0.94253	GCC		0.463	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		52	268	0	0	0	1	0	52	268				
THOC2	57187	broad.mit.edu	37	X	122829989	122829989	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122829989T>C	ENST00000245838.8	-	7	514	c.483A>G	c.(481-483)aaA>aaG	p.K161K	THOC2_ENST00000491737.1_Silent_p.K46K|THOC2_ENST00000355725.4_Silent_p.K161K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	161					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACAAATTGAATTTTTGCTGCT	0.299																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(481-483)aaA>aaG		THO complex 2							58.0	51.0	53.0					X																	122829989		1805	4050	5855	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122829989T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.483A>G	X.37:g.122829989T>C						THOC2_ENST00000355725.4_Silent_p.K161K|THOC2_ENST00000491737.1_Silent_p.K46K	p.K161K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			7	514	-			161					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.483A>G	CCDS43988.1																																																																																				0.299	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			46	129	0	0	0	1	0	46	129				
MOGAT3	346606	broad.mit.edu	37	7	100842058	100842058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100842058G>A	ENST00000223114.4	-	4	508	c.342C>T	c.(340-342)caC>caT	p.H114H	MOGAT3_ENST00000440203.2_Silent_p.H114H|MOGAT3_ENST00000379423.3_Silent_p.H114H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	114					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCATGAGGGTGGGCGCCCA	0.602																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(340-342)caC>caT		monoacylglycerol O-acyltransferase 3							80.0	85.0	83.0					7																	100842058		2203	4300	6503	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100842058G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.342C>T	7.37:g.100842058G>A						MOGAT3_ENST00000440203.2_Silent_p.H114H|MOGAT3_ENST00000379423.3_Silent_p.H114H	p.H114H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN			4	508	-	Lung NSC(181;0.168)|all_lung(186;0.215)		114					Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	37	c.342C>T	CCDS5714.1																																																																																				0.602	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		100	442	0	0	0	1	0	100	442				
PTPRG	5793	broad.mit.edu	37	3	62153813	62153813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62153813C>T	ENST00000474889.1	+	8	1386	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	337					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTAGAAAACCCACTGGGGAC	0.448																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1009-1011)Cca>Tca		protein tyrosine phosphatase, receptor type, G							62.0	64.0	63.0					3																	62153813		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62153813C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1009C>T	3.37:g.62153813C>T	ENSP00000418112:p.Pro337Ser					PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	p.P337S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	8	1386	+			337					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.1009C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770178	0.90108	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.51071	0.73;0.72	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.963	T	0.69967	-0.5001	10	0.72032	D	0.01	.	19.4228	0.94729	0.0:1.0:0.0:0.0	.	337;337	P23470-2;P23470	.;PTPRG_HUMAN	S	337	ENSP00000418112:P337S;ENSP00000295874:P337S	ENSP00000295874:P337S	P	+	1	0	PTPRG	62128853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.663000	0.90544	0.655000	0.94253	CCA		0.448	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		51	216	0	0	0	1	0	51	216				
ERBB4	2066	broad.mit.edu	37	2	212285274	212285274	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285274A>G	ENST00000342788.4	-	25	3337	c.3027T>C	c.(3025-3027)gaT>gaC	p.D1009D	ERBB4_ENST00000402597.1_Silent_p.D999D|ERBB4_ENST00000436443.1_Silent_p.D1009D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1009					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AATCCTCTTCATCCAAGAGAT	0.428										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3025-3027)gaT>gaC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							96.0	88.0	91.0					2																	212285274		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212285274A>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3027T>C	2.37:g.212285274A>G		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Silent_p.D1009D|ERBB4_ENST00000402597.1_Silent_p.D999D	p.D1009D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	25	3337	-		Renal(323;0.06)|Lung NSC(271;0.197)	1009					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3027T>C	CCDS2394.1																																																																																				0.428	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		59	182	0	0	0	1	0	59	182				
ZNF142	7701	broad.mit.edu	37	2	219513829	219513829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219513829G>T	ENST00000449707.1	-	6	1223	c.802C>A	c.(802-804)Cta>Ata	p.L268I	ZNF142_ENST00000411696.2_Missense_Mutation_p.L268I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTCCTTTAGGGCCTGGCTG	0.582											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(802-804)Cta>Ata		zinc finger protein 142							34.0	36.0	35.0					2																	219513829		2059	4205	6264	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219513829G>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.802C>A	2.37:g.219513829G>T	ENSP00000408643:p.Leu268Ile		OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2259	ZNF142_ENST00000449707.1_Missense_Mutation_p.L268I	p.L268I			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	5	1581	-		Renal(207;0.0474)	268					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.802C>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160812	0.78226	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.21031	2.03;2.03	5.06	5.06	0.68205	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.83312	2.635	0.42258	D	0.992001	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.58120	-0.7692	10	0.87932	D	0	-26.1267	18.9909	0.92791	0.0:0.0:1.0:0.0	.	268;105	P52746;A8MWU9	ZN142_HUMAN;.	I	268	ENSP00000408643:L268I;ENSP00000398798:L268I	ENSP00000398798:L268I	L	-	1	2	ZNF142	219222073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.797000	0.62503	2.797000	0.96272	0.563000	0.77884	CTA		0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		52	197	1	0	6.14515e-18	1	6.80267e-18	52	197				
SESN3	143686	broad.mit.edu	37	11	94908712	94908712	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94908712T>C	ENST00000536441.1	-	9	1678	c.1342A>G	c.(1342-1344)Aca>Gca	p.T448A	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.T309A|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	448					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATGCGTTTTGTAGTTCTCTCA	0.368																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(1342-1344)Aca>Gca		sestrin 3							166.0	155.0	159.0					11																	94908712		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94908712T>C	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1342A>G	11.37:g.94908712T>C	ENSP00000441927:p.Thr448Ala					RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.T309A	p.T448A	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	9	1678	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	448					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.1342A>G	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539931	0.45176	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.30981	1.51;1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.992;0.994	T	0.70219	-0.4932	10	0.72032	D	0.01	0.0717	15.2678	0.73675	0.0:0.0:0.0:1.0	.	309;448	B7Z7P9;P58005	.;SESN3_HUMAN	A	448;309	ENSP00000441927:T448A;ENSP00000278499:T309A	ENSP00000278499:T309A	T	-	1	0	SESN3	94548360	1.000000	0.71417	0.950000	0.38849	0.184000	0.23303	7.365000	0.79537	2.192000	0.70111	0.528000	0.53228	ACA		0.368	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		70	322	0	0	0	1	0	70	322				
NTNG2	84628	broad.mit.edu	37	9	135073361	135073361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073361C>T	ENST00000393229.3	+	3	998	c.222C>T	c.(220-222)ccC>ccT	p.P74P	NTNG2_ENST00000393228.4_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P|NTNG2_ENST00000372179.3_Silent_p.P74P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	74	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.|NGL discriminant loop I.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGGAGAATCCCTACCTATGCA	0.667																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(220-222)ccC>ccT		netrin G2							31.0	31.0	31.0					9																	135073361		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073361C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.222C>T	9.37:g.135073361C>T						NTNG2_ENST00000393228.4_Silent_p.P74P|NTNG2_ENST00000372179.3_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P	p.P74P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	998	+			74			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.222C>T	CCDS6946.1																																																																																				0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		52	189	0	0	0	1	0	52	189				
CBLN4	140689	broad.mit.edu	37	20	54579107	54579107	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54579107G>T	ENST00000064571.2	-	1	1421	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	41					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CACACCACCAGACACTTGCCC	0.692																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(121-123)Ctg>Atg		cerebellin 4 precursor							48.0	46.0	47.0					20																	54579107		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54579107G>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.121C>A	20.37:g.54579107G>T	ENSP00000064571:p.Leu41Met						p.L41M	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	1421	-			41					A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.121C>A	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250479	0.59212	.	.	ENSG00000054803	ENST00000064571	D	0.86230	-2.09	4.98	2.99	0.34606	.	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.78456	2.415	0.58432	D	0.999996	B	0.32338	0.365	B	0.32090	0.14	D	0.84230	0.0466	10	0.40728	T	0.16	-14.5029	11.7116	0.51628	0.1514:0.0:0.8486:0.0	.	41	Q9NTU7	CBLN4_HUMAN	M	41	ENSP00000064571:L41M	ENSP00000064571:L41M	L	-	1	2	CBLN4	54012514	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.247000	0.58750	1.222000	0.43521	0.655000	0.94253	CTG		0.692	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		41	234	1	0	3.61848e-18	1	4.01023e-18	41	234				
RITA1	84934	broad.mit.edu	37	12	113629192	113629192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113629192C>T	ENST00000548278.1	+	4	1072	c.380C>T	c.(379-381)cCg>cTg	p.P127L	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L|C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		127					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCGGGGCCCCGCGGATGGCG	0.647																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(379-381)cCg>cTg		chromosome 12 open reading frame 52							29.0	31.0	30.0					12																	113629192		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629192C>T																												ENST00000548278.1:c.380C>T	12.37:g.113629192C>T	ENSP00000449841:p.Pro127Leu					RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L|C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L	p.P127L	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			4	1072	+			127					B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.380C>T	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	C	7.859	0.725635	0.15439	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.49720	0.82;0.82;0.77	4.39	3.48	0.39840	.	0.651748	0.13491	N	0.383941	T	0.50582	0.1624	M	0.66939	2.045	0.09310	N	1	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.48030	0.564;0.564;0.564	T	0.39313	-0.9620	10	0.42905	T	0.14	-0.7116	9.4921	0.38967	0.2107:0.7893:0.0:0.0	.	127;151;127	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	L	127;127;151;127;127;124	ENSP00000448289:P127L;ENSP00000449841:P127L;ENSP00000448680:P151L	ENSP00000266813:P124L	P	+	2	0	C12orf52	112113575	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	1.496000	0.35638	1.032000	0.39892	0.655000	0.94253	CCG		0.647	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			7	287	0	0	0	1	0	7	287				
RALGPS1	9649	broad.mit.edu	37	9	129961313	129961313	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129961313G>A	ENST00000259351.5	+	14	1482	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	405					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGAGCTCAGAGTTTAGTGAAG	0.597											OREG0019502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1213-1215)gaG>gaA		Ral GEF with PH domain and SH3 binding motif 1							206.0	192.0	197.0					9																	129961313		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129961313G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1215G>A	9.37:g.129961313G>A			OREG0019502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	p.E405E	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			14	1482	+			405					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.1215G>A	CCDS35143.1																																																																																				0.597	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		15	608	0	0	0	1	0	15	608				
MAN2B2	23324	broad.mit.edu	37	4	6578436	6578436	+	Silent	SNP	C	C	T	rs368603888		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6578436C>T	ENST00000285599.3	+	2	306	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MAN2B2_ENST00000504248.1_Silent_p.D90D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	90					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCGCCTCGGACCAGCAGAAAT	0.597																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(268-270)gaC>gaT		mannosidase, alpha, class 2B, member 2		C		1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		270	-0.5	0.1	4		65	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		90/1010	6578436	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6578436C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.270C>T	4.37:g.6578436C>T						MAN2B2_ENST00000504248.1_Silent_p.D90D	p.D90D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			2	306	+			90					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.270C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.043348	0.01997	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	3.67	-0.46	0.12175	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	.	7.1801	0.25768	0.0:0.2972:0.4966:0.2062	.	.	.	.	I	89	.	.	T	+	2	0	MAN2B2	6629337	0.000000	0.05858	0.135000	0.22099	0.251000	0.25915	-0.223000	0.09177	-0.768000	0.04626	-1.358000	0.01219	ACC		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		77	358	0	0	0	1	0	77	358				
DNAH5	1767	broad.mit.edu	37	5	13766267	13766267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13766267C>T	ENST00000265104.4	-	59	10023	c.9919G>A	c.(9919-9921)Gcc>Acc	p.A3307T	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3307	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3307T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGAACAGTGGCGATGTCCGAA	0.522									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.A3307T(1)	large_intestine(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9919-9921)Gcc>Acc		dynein, axonemal, heavy chain 5							95.0	92.0	93.0					5																	13766267		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766267C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9919G>A	5.37:g.13766267C>T	ENSP00000265104:p.Ala3307Thr					DNAH5_ENST00000504001.3_Intron	p.A3307T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			59	10023	-	Lung NSC(4;0.00476)		3307			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9919G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127535	0.77549	.	.	ENSG00000039139	ENST00000265104	T	0.69685	-0.42	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.052284	0.85682	N	0.000000	T	0.64886	0.2639	L	0.49778	1.585	0.80722	D	1	B	0.17038	0.02	B	0.25884	0.064	T	0.58261	-0.7667	10	0.24483	T	0.36	.	19.7357	0.96202	0.0:1.0:0.0:0.0	.	3307	Q8TE73	DYH5_HUMAN	T	3307	ENSP00000265104:A3307T	ENSP00000265104:A3307T	A	-	1	0	DNAH5	13819267	1.000000	0.71417	0.284000	0.24805	0.684000	0.39900	7.683000	0.84093	2.660000	0.90430	0.558000	0.71614	GCC		0.522	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		91	530	0	0	0	1	0	91	530				
MTO1	25821	broad.mit.edu	37	6	74189713	74189713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74189713G>T	ENST00000370300.4	+	6	1083	c.993G>T	c.(991-993)caG>caT	p.Q331H	MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H|AL603910.1_ENST00000580608.1_RNA|MTO1_ENST00000498286.1_Missense_Mutation_p.Q331H	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	331					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GTCTACATCAGGTTTGGTTGG	0.383											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(991-993)caG>caT		mitochondrial tRNA translation optimization 1							123.0	114.0	117.0					6																	74189713		2203	4300	6503	SO:0001583	missense	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74189713G>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.993G>T	6.37:g.74189713G>T	ENSP00000359323:p.Gln331His		OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	MTO1_ENST00000370300.4_Missense_Mutation_p.Q331H|MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H	p.Q331H			Q9Y2Z2	MTO1_HUMAN			6	1270	+			331					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	c.993G>T	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393532	0.62066	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.14	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.62723	1.935	0.49687	D	0.999819	P;P;P	0.52170	0.951;0.912;0.929	P;P;P	0.56960	0.712;0.712;0.81	T	0.76857	-0.2804	10	0.87932	D	0	-16.8034	9.0065	0.36115	0.2501:0.0:0.7499:0.0	.	331;331;331	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	H	331;331;234;257;331	ENSP00000402038:Q331H;ENSP00000419561:Q331H;ENSP00000359328:Q257H;ENSP00000359323:Q331H	ENSP00000350506:Q234H	Q	+	3	2	MTO1	74246434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.201000	0.51059	0.672000	0.31204	0.591000	0.81541	CAG		0.383	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		75	318	1	0	7.14593e-30	1	8.36387e-30	75	318				
AUTS2	26053	broad.mit.edu	37	7	70231305	70231305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231305G>A	ENST00000342771.4	+	9	1995	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	AUTS2_ENST00000406775.2_Silent_p.T558T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	558										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGCCGACGCCAGCACCTC	0.627																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1672-1674)acG>acA		autism susceptibility candidate 2							196.0	183.0	188.0					7																	70231305		2203	4300	6503	SO:0001819	synonymous_variant	26053							g.chr7:70231305G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1674G>A	7.37:g.70231305G>A						AUTS2_ENST00000406775.2_Silent_p.T558T	p.T558T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	9	1995	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	558					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.1674G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.054992	0.19907	.	.	ENSG00000158321	ENST00000443672	.	.	.	5.32	4.38	0.52667	.	.	.	.	.	T	0.64103	0.2568	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	-7.7806	12.7117	0.57094	0.0:0.0:0.7115:0.2884	.	.	.	.	H	100	.	.	R	+	2	0	AUTS2	69869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.633000	0.37113	2.498000	0.84270	0.561000	0.74099	CGC		0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			34	313	0	0	0	1	0	34	313				
HMCN1	83872	broad.mit.edu	37	1	186057863	186057863	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186057863A>C	ENST00000271588.4	+	63	9932	c.9703A>C	c.(9703-9705)Aaa>Caa	p.K3235Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3235	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAAGCCCAGAAATATTACTT	0.328																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(9703-9705)Aaa>Caa		hemicentin 1							55.0	59.0	57.0					1																	186057863		2203	4298	6501	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057863A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9703A>C	1.37:g.186057863A>C	ENSP00000271588:p.Lys3235Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	p.K3235Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			63	9932	+			3235			Ig-like C2-type 30.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9703A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488294	0.64074	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.73867	-0.3847	10	0.25106	T	0.35	.	15.3835	0.74679	1.0:0.0:0.0:0.0	.	3235	Q96RW7	HMCN1_HUMAN	Q	3235	ENSP00000271588:K3235Q;ENSP00000356462:K3235Q	ENSP00000271588:K3235Q	K	+	1	0	HMCN1	184324486	1.000000	0.71417	0.990000	0.47175	0.199000	0.23934	8.923000	0.92808	2.028000	0.59812	0.528000	0.53228	AAA		0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	96	0	0	0	1	0	17	96				
LTA4H	4048	broad.mit.edu	37	12	96412579	96412579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412579C>A	ENST00000228740.2	-	8	955	c.814G>T	c.(814-816)Gag>Tag	p.E272*	LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*|LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	272	Substrate binding.				arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	CAAGGATTCTCCATGCCACCA	0.398																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(814-816)Gag>Tag		leukotriene A4 hydrolase							71.0	64.0	67.0					12																	96412579		2203	4300	6503	SO:0001587	stop_gained	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96412579C>A	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.814G>T	12.37:g.96412579C>A	ENSP00000228740:p.Glu272*					LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*|LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*	p.E272*	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			8	955	-			272			Substrate binding.		B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Nonsense_Mutation	SNP	ENST00000228740.2	37	c.814G>T	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	39	7.296889	0.98192	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	.	.	.	5.15	5.15	0.70609	.	0.044140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.386	18.9881	0.92780	0.0:1.0:0.0:0.0	.	.	.	.	X	272;248;248	.	ENSP00000228740:E272X	E	-	1	0	LTA4H	94936710	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.743000	0.85020	2.577000	0.86979	0.491000	0.48974	GAG		0.398	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		45	155	1	0	2.24722e-20	1	2.51766e-20	45	155				
LCMT1	51451	broad.mit.edu	37	16	25143812	25143812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25143812G>A	ENST00000399069.3	+	3	450	c.295G>A	c.(295-297)Gca>Aca	p.A99T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	99					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAACCTTGGGGCAGGCATGGA	0.433																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(295-297)Gca>Aca		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						108.0	106.0	107.0					16																	25143812		1933	4130	6063	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25143812G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.295G>A	16.37:g.25143812G>A	ENSP00000382021:p.Ala99Thr					LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	p.A99T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	3	450	+			99					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.295G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407039	0.42715	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.30448	1.53;1.53	5.51	4.54	0.55810	.	0.121669	0.56097	D	0.000037	T	0.67126	0.2860	H	0.96175	3.78	0.54753	D	0.999981	D;D	0.89917	0.998;1.0	D;D	0.81914	0.982;0.995	T	0.78339	-0.2242	10	0.87932	D	0	-16.1964	13.5204	0.61563	0.0:0.0:0.8429:0.1571	.	99;99	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	99;99;116	ENSP00000382021:A99T;ENSP00000370353:A99T	ENSP00000370349:A116T	A	+	1	0	LCMT1	25051313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.941000	0.75922	1.312000	0.45043	0.655000	0.94253	GCA		0.433	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		30	137	0	0	0	1	0	30	137				
CNP	1267	broad.mit.edu	37	17	40117142	40117142	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40117142G>A	ENST00000393892.3	+	0	0				CNP_ENST00000591072.1_5'Flank|CNP_ENST00000472031.1_5'Flank|CNP_ENST00000393888.1_5'Flank|TTC25_ENST00000591658.1_RNA	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGACGATGAGGCTTTTGGGGA	0.542																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25							35.0	39.0	38.0					17																	40117142		2000	4170	6170	SO:0001631	upstream_gene_variant	83538					cytoplasm	protein binding	g.chr17:40117142G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502		17.37:g.40117142G>A	Exception_encountered									Q96NG3	TTC25_HUMAN			0	1531	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)							RNA	SNP	ENST00000393892.3	37		CCDS11414.2																																																																																				0.542	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			9	51	0	0	0	1	0	9	51				
SULT2A1	6822	broad.mit.edu	37	19	48386976	48386976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48386976G>T	ENST00000222002.3	-	2	342	c.203C>A	c.(202-204)tCt>tAt	p.S68Y		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	GATGGGCACAGATTGGATCCA	0.483																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(202-204)tCt>tAt		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							88.0	77.0	81.0					19																	48386976		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48386976G>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.203C>A	19.37:g.48386976G>T	ENSP00000222002:p.Ser68Tyr						p.S68Y	NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	2	342	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	68						Missense_Mutation	SNP	ENST00000222002.3	37	c.203C>A	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703981	0.30232	.	.	ENSG00000105398	ENST00000222002	D	0.83673	-1.75	3.39	3.39	0.38822	Sulfotransferase domain (1);	0.241943	0.28677	N	0.014505	D	0.92149	0.7511	M	0.92077	3.27	0.29164	N	0.877579	D	0.89917	1.0	D	0.76071	0.987	D	0.87559	0.2470	10	0.87932	D	0	.	12.6508	0.56759	0.0:0.0:1.0:0.0	.	68	Q06520	ST2A1_HUMAN	Y	68	ENSP00000222002:S68Y	ENSP00000222002:S68Y	S	-	2	0	SULT2A1	53078788	0.025000	0.19082	0.249000	0.24280	0.021000	0.10359	1.279000	0.33191	1.921000	0.55644	0.643000	0.83706	TCT		0.483	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		6	246	1	0	8.12818e-05	1	8.2724e-05	6	246				
GBE1	2632	broad.mit.edu	37	3	81627222	81627222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81627222G>A	ENST00000429644.2	-	12	2115	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	491					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAACCAAAATGCCAGCGACTT	0.358									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1471-1473)gCa>gTa		glucan (1,4-alpha-), branching enzyme 1							69.0	63.0	65.0					3																	81627222		1896	4117	6013	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81627222G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1472C>T	3.37:g.81627222G>A	ENSP00000410833:p.Ala491Val					GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	p.A491V	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	12	2115	-		Lung NSC(201;0.0117)	491					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.1472C>T	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539408	0.85917	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.85484	-1.99;-1.99	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.101196	0.64402	D	0.000002	D	0.94879	0.8345	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67382	0.811;0.951	D	0.95854	0.8877	10	0.87932	D	0	-12.9944	19.7771	0.96399	0.0:0.0:1.0:0.0	.	450;491	E9PGM4;Q04446	.;GLGB_HUMAN	V	491;542;450;254	ENSP00000410833:A491V;ENSP00000419638:A450V	ENSP00000264326:A542V	A	-	2	0	GBE1	81709912	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.455000	0.97625	2.676000	0.91093	0.585000	0.79938	GCA		0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			15	56	0	0	0	1	0	15	56				
RUVBL2	10856	broad.mit.edu	37	19	49507607	49507607	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49507607G>T	ENST00000595090.1	+	4	661	c.197G>T	c.(196-198)gGg>gTg	p.G66V	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G21V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	66					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCCGGGAAGGGAAGATTGCC	0.662																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(61-63)gGg>gTg		RuvB-like AAA ATPase 2							50.0	56.0	54.0					19																	49507607		1966	4136	6102	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507607G>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.197G>T	19.37:g.49507607G>T	ENSP00000473172:p.Gly66Val					RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G66V	p.G21V			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	1210	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	66					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.62G>T	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871445	0.91587	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.51325	0.71;0.8	4.74	4.74	0.60224	TIP49, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	H	0.98089	4.145	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.995;0.978;0.981	D	0.87759	0.2597	10	0.87932	D	0	-53.1308	15.594	0.76562	0.0:0.0:1.0:0.0	.	66;66;32	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	V	66;21	ENSP00000221413:G66V;ENSP00000413890:G21V	ENSP00000221413:G66V	G	+	2	0	RUVBL2	54199419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.639000	0.91023	2.366000	0.80165	0.561000	0.74099	GGG		0.662	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			90	423	1	0	5.92634e-42	1	7.20812e-42	90	423				
HEATR3	55027	broad.mit.edu	37	16	50138873	50138873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50138873C>A	ENST00000299192.7	+	15	2135	c.1944C>A	c.(1942-1944)aaC>aaA	p.N648K	HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	648										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGAGAGGTAACTATAGCACAG	0.294																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1942-1944)aaC>aaA		HEAT repeat containing 3							119.0	124.0	122.0					16																	50138873		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50138873C>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1944C>A	16.37:g.50138873C>A	ENSP00000299192:p.Asn648Lys					HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K|RP11-429P3.5_ENST00000566770.1_RNA	p.N648K	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			15	2135	+			648					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1944C>A	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698907	0.03279	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.38560	1.13;1.19	5.88	-2.38	0.06622	.	0.142339	0.64402	N	0.000009	T	0.06462	0.0166	N	0.00237	-1.79	0.23107	N	0.998284	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.02654	T	1	.	2.3785	0.04348	0.5172:0.2099:0.1745:0.0985	.	562;648	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	K	562;648	ENSP00000285767:N562K;ENSP00000299192:N648K	ENSP00000285767:N562K	N	+	3	2	HEATR3	48696374	0.997000	0.39634	0.041000	0.18516	0.791000	0.44710	0.605000	0.24179	-0.777000	0.04572	-1.103000	0.02113	AAC		0.294	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		30	358	1	0	1.26612e-14	1	1.37737e-14	30	358				
TRIO	7204	broad.mit.edu	37	5	14482807	14482807	+	Silent	SNP	C	C	T	rs139448086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14482807C>T	ENST00000344204.4	+	46	6606	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_ENST00000537187.1_Silent_p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2194	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGAGCAGATCGTCATATTCA	0.478																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6580-6582)atC>atT		trio Rho guanine nucleotide exchange factor		C		0,4406		0,0,2203	124.0	119.0	121.0		6582	-5.3	0.9	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIO	NM_007118.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2194/3098	14482807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14482807C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6582C>T	5.37:g.14482807C>T						TRIO_ENST00000537187.1_Silent_p.I2194I	p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			46	6606	+	Lung NSC(4;0.000742)		2194			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.6582C>T	CCDS3883.1																																																																																				0.478	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		98	499	0	0	0	1	0	98	499				
UTRN	7402	broad.mit.edu	37	6	144758755	144758755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758755G>A	ENST00000367545.3	+	10	1114	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	372	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGTCCTGCAGGCAGGCAACCA	0.463																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1114-1116)Gca>Aca		utrophin							95.0	87.0	90.0					6																	144758755		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144758755G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1114G>A	6.37:g.144758755G>A	ENSP00000356515:p.Ala372Thr						p.A372T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	10	1114	+		Ovarian(120;0.218)	372			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1114G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019322	0.93462	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.47528	0.84	5.45	5.45	0.79879	.	0.000000	0.49305	D	0.000144	T	0.61615	0.2361	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56944	-0.7895	10	0.34782	T	0.22	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	372	P46939	UTRO_HUMAN	T	372	ENSP00000356515:A372T	ENSP00000356499:A372T	A	+	1	0	UTRN	144800448	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GCA		0.463	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			48	278	0	0	0	1	0	48	278				
FRY	10129	broad.mit.edu	37	13	32768363	32768363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32768363C>T	ENST00000380250.3	+	29	4171	c.3675C>T	c.(3673-3675)gaC>gaT	p.D1225D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1225						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGGCAATTGACCGATGCTACA	0.428																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3673-3675)gaC>gaT		furry homolog (Drosophila)							133.0	126.0	128.0					13																	32768363		1895	4125	6020	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32768363C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3675C>T	13.37:g.32768363C>T							p.D1225D	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	29	4171	+		Lung SC(185;0.0271)	1225					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.3675C>T	CCDS41875.1																																																																																				0.428	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		72	397	0	0	0	1	0	72	397				
EXOC3	11336	broad.mit.edu	37	5	453694	453694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:453694T>C	ENST00000512944.1	+	4	763	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	203					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAAGCAGCTGTGGATGGTGCT	0.567																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(574-576)Tgg>Cgg		exocyst complex component 3							79.0	80.0	79.0					5																	453694		2056	4198	6254	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:453694T>C	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.574T>C	5.37:g.453694T>C	ENSP00000425587:p.Trp192Arg					EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	p.W192R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	763	+		Ovarian(839;0.0563)	203					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.574T>C	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151108	0.38021	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06849	3.25;3.25	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.46885	1.475	0.80722	D	1	P	0.35481	0.504	P	0.47786	0.557	T	0.14117	-1.0484	10	0.19590	T	0.45	-21.2894	13.6941	0.62567	0.0:0.0:0.0:1.0	.	203	O60645	EXOC3_HUMAN	R	192;192;202	ENSP00000425587:W192R;ENSP00000323377:W192R	ENSP00000323377:W192R	W	+	1	0	EXOC3	506694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.740000	0.84986	2.134000	0.65973	0.459000	0.35465	TGG		0.567	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		62	297	0	0	0	1	0	62	297				
ZFP64	55734	broad.mit.edu	37	20	50701282	50701282	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50701282G>T	ENST00000361387.2	-	9	1812	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.T365T	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCGCCGCAGGTCTCACAGC	0.602																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1750-1752)acC>acA		ZFP64 zinc finger protein							58.0	48.0	52.0					20																	50701282		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701282G>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1752C>A	20.37:g.50701282G>T						ZFP64_ENST00000371523.4_Silent_p.T365T|ZFP64_ENST00000371518.2_Intron	p.T584T	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1812	-			429					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	c.1752C>A	CCDS13439.1																																																																																				0.602	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		37	203	1	0	9.8876e-21	1	1.10988e-20	37	203				
TCF4	6925	broad.mit.edu	37	18	52901874	52901874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:52901874C>A	ENST00000356073.4	-	16	2002	c.1391G>T	c.(1390-1392)aGc>aTc	p.S464I	TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000354452.3_Missense_Mutation_p.S464I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I|TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	464					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAGAGAATGGCTGCCTCTCAG	0.597											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1390-1392)aGc>aTc		transcription factor 4							108.0	111.0	110.0					18																	52901874		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52901874C>A	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1391G>T	18.37:g.52901874C>A	ENSP00000348374:p.Ser464Ile		OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000356073.4_Missense_Mutation_p.S464I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I	p.S464I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	16	2002	-			464					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1391G>T	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177483	0.78564	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.5	5.5	0.81552	.	0.044173	0.85682	D	0.000000	T	0.70902	0.3277	L	0.55213	1.73	0.53688	D	0.999972	P;D;P;D;B;P;P;P;P	0.61080	0.69;0.98;0.887;0.989;0.072;0.713;0.713;0.936;0.744	P;P;P;P;B;B;P;B;B	0.61201	0.536;0.844;0.474;0.885;0.015;0.434;0.467;0.367;0.272	T	0.72340	-0.4323	10	0.72032	D	0.01	-8.8053	18.543	0.91037	0.0:1.0:0.0:0.0	.	440;464;304;566;464;422;393;304;461	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	I	464;304;464;422;440;440;393;334;566	ENSP00000346440:S464I;ENSP00000409447:S304I;ENSP00000348374:S464I;ENSP00000439656:S422I;ENSP00000445202:S440I;ENSP00000440731:S440I;ENSP00000441562:S393I;ENSP00000439827:S334I;ENSP00000381382:S566I	ENSP00000346440:S464I	S	-	2	0	TCF4	51052872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.770000	0.55310	2.758000	0.94735	0.563000	0.77884	AGC		0.597	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		82	452	1	0	9.25274e-37	1	1.1089e-36	82	452				
KMT2D	8085	broad.mit.edu	37	12	49444835	49444835	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49444835A>G	ENST00000301067.7	-	10	2630	c.2631T>C	c.(2629-2631)ccT>ccC	p.P877P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	877	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCAGCTCCTCAGGTGCAGGGC	0.642																																						ENST00000301067.7																			0											c.(2629-2631)ccT>ccC		lysine (K)-specific methyltransferase 2D							49.0	55.0	53.0					12																	49444835		1974	4171	6145	SO:0001819	synonymous_variant	8085							g.chr12:49444835A>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2631T>C	12.37:g.49444835A>G							p.P877P	NM_003482.3	NP_003473.3					10	2630	-								O14687	Silent	SNP	ENST00000301067.7	37	c.2631T>C	CCDS44873.1																																																																																				0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			94	388	0	0	0	1	0	94	388				
CERS4	79603	broad.mit.edu	37	19	8321538	8321538	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8321538G>T	ENST00000251363.5	+	8	856	c.556G>T	c.(556-558)Gag>Tag	p.E186*	CERS4_ENST00000559450.1_Nonsense_Mutation_p.E186*|CERS4_ENST00000559336.1_Nonsense_Mutation_p.E186*|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_Nonsense_Mutation_p.E135*	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	186	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GTACCTCTTGGAGCTGGGTTT	0.567																																						ENST00000558331.1																			0											c.(403-405)Gag>Tag		ceramide synthase 4							166.0	138.0	148.0					19																	8321538		2203	4300	6503	SO:0001587	stop_gained	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8321538G>T		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.556G>T	19.37:g.8321538G>T	ENSP00000251363:p.Glu186*					CERS4_ENST00000251363.5_Nonsense_Mutation_p.E186*|CERS4_ENST00000559450.1_Nonsense_Mutation_p.E186*|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Nonsense_Mutation_p.E186*	p.E135*			Q9HA82	CERS4_HUMAN			8	862	+			186			TLC.		D6W665	Nonsense_Mutation	SNP	ENST00000251363.5	37	c.403G>T	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115408	0.56505	.	.	ENSG00000090661	ENST00000251363	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.1994	14.479	0.67567	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000251363:E186X	E	+	1	0	CERS4	8227538	1.000000	0.71417	0.915000	0.36163	0.037000	0.13140	8.112000	0.89566	2.009000	0.58944	0.462000	0.41574	GAG		0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		73	361	1	0	1.68136e-41	1	2.04314e-41	73	361				
C15orf39	56905	broad.mit.edu	37	15	75500244	75500244	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500244A>G	ENST00000360639.2	+	2	2175	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E|C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	619						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCAGGCCTGAAAAAGATAGA	0.567																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1855-1857)Aaa>Gaa		chromosome 15 open reading frame 39							54.0	46.0	49.0					15																	75500244		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75500244A>G	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1855A>G	15.37:g.75500244A>G	ENSP00000353854:p.Lys619Glu					C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E|C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E	p.K619E			Q6ZRI6	CO039_HUMAN			2	2175	+			619					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.1855A>G	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966688	0.53507	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.81078	-1.45;-1.45	4.89	1.0	0.19881	.	0.441548	0.22792	N	0.055595	T	0.59004	0.2162	N	0.21448	0.665	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.003;0.004	T	0.33828	-0.9853	10	0.09590	T	0.72	-0.4539	3.9376	0.09313	0.3225:0.3998:0.2777:0.0	.	181;619	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	E	619;619;17	ENSP00000353854:K619E;ENSP00000378438:K619E	ENSP00000353854:K619E	K	+	1	0	C15orf39	73287297	0.030000	0.19436	0.020000	0.16555	0.782000	0.44232	1.660000	0.37397	0.193000	0.20303	0.533000	0.62120	AAA		0.567	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		49	191	0	0	0	1	0	49	191				
PIK3C2A	5286	broad.mit.edu	37	11	17190264	17190264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17190264C>T	ENST00000265970.7	-	1	1024	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	342					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTGAGTTGTTCGAATATTTAA	0.373																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1024-1026)cGa>cAa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						93.0	98.0	96.0					11																	17190264		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190264C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1025G>A	11.37:g.17190264C>T	ENSP00000265970:p.Arg342Gln					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	p.R342Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	1024	-			342					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1025G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112024	0.37242	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64438	-0.1	5.39	2.39	0.29439	.	0.787528	0.11900	N	0.518665	T	0.47002	0.1422	L	0.32530	0.975	0.80722	D	1	D;P	0.56287	0.975;0.717	B;B	0.41619	0.361;0.13	T	0.29882	-0.9997	10	0.11485	T	0.65	-0.7378	10.8495	0.46761	0.0:0.6901:0.2424:0.0675	.	342;342	F5H5W9;O00443	.;P3C2A_HUMAN	Q	342	ENSP00000265970:R342Q	ENSP00000265970:R342Q	R	-	2	0	PIK3C2A	17146840	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.430000	0.52807	0.633000	0.30452	-0.300000	0.09419	CGA		0.373	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		41	506	0	0	0	1	0	41	506				
CRIM1	51232	broad.mit.edu	37	2	36704168	36704168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36704168C>T	ENST00000280527.2	+	6	1495	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	376	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGATAAACTGCGAGAGGTACT	0.488																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1126-1128)tgC>tgT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							112.0	98.0	103.0					2																	36704168		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36704168C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1128C>T	2.37:g.36704168C>T							p.C376C	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			6	1495	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	376			VWFC 1.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.1128C>T	CCDS1783.1																																																																																				0.488	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		128	347	0	0	0	1	0	128	347				
KIAA1715	80856	broad.mit.edu	37	2	176802174	176802174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176802174G>T	ENST00000272748.4	-	12	1199	c.952C>A	c.(952-954)Cct>Act	p.P318T	KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	318					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTAAACTCAGGAAGTCTTGGA	0.423																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(952-954)Cct>Act		KIAA1715							76.0	74.0	75.0					2																	176802174		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176802174G>T	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.952C>A	2.37:g.176802174G>T	ENSP00000272748:p.Pro318Thr					KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T|KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T	p.P318T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		12	1199	-			318					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.952C>A	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926957	0.34002	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.61	5.61	0.85477	.	0.049239	0.85682	D	0.000000	T	0.78065	0.4225	M	0.61703	1.905	0.53005	D	0.999968	D;P;D;D	0.76494	0.999;0.93;0.997;0.973	D;P;P;P	0.71656	0.974;0.496;0.879;0.614	T	0.79296	-0.1862	9	0.87932	D	0	-4.2995	19.6271	0.95682	0.0:0.0:1.0:0.0	.	320;349;315;318	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	T	318;320;195;349;243	.	ENSP00000272748:P318T	P	-	1	0	KIAA1715	176510420	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	6.299000	0.72770	2.645000	0.89757	0.591000	0.81541	CCT		0.423	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		59	332	1	0	1.64573e-32	1	1.94376e-32	59	332				
NCAPD2	9918	broad.mit.edu	37	12	6637024	6637024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6637024C>T	ENST00000315579.5	+	23	3788	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	997					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.R997C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493																																						ENST00000315579.5																			1	Substitution - Missense(1)	p.R997C(1)	endometrium(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2989-2991)Cgt>Tgt		non-SMC condensin I complex, subunit D2							132.0	132.0	132.0					12																	6637024		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6637024C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2989C>T	12.37:g.6637024C>T	ENSP00000325017:p.Arg997Cys					NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C	p.R997C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			23	3788	+			997					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2989C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050528	0.55218	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.14022	2.54;2.54;2.54	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.999	D;P;P	0.68765	0.96;0.677;0.863	T	0.05550	-1.0878	10	0.59425	D	0.04	-16.4149	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	952;958;997	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	997;869;952;869	ENSP00000325017:R997C;ENSP00000371895:R869C;ENSP00000444417:R952C	ENSP00000325017:R997C	R	+	1	0	NCAPD2	6507285	1.000000	0.71417	0.954000	0.39281	0.127000	0.20565	3.691000	0.54720	2.824000	0.97209	0.655000	0.94253	CGT		0.493	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		125	637	0	0	0	1	0	125	637				
METTL21C	196541	broad.mit.edu	37	13	103338488	103338488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103338488C>T	ENST00000267273.6	-	4	693	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	230					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)	p.D230N(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AATTCATAGTCGGTGCTGAAC	0.433																																						ENST00000267273.6																			1	Substitution - Missense(1)	p.D230N(1)	large_intestine(1)	breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(688-690)Gac>Aac		methyltransferase like 21C							69.0	65.0	67.0					13																	103338488		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103338488C>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.688G>A	13.37:g.103338488C>T	ENSP00000267273:p.Asp230Asn						p.D230N	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			4	693	-			230						Missense_Mutation	SNP	ENST00000267273.6	37	c.688G>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000631	0.93227	.	.	ENSG00000139780	ENST00000267273	T	0.08634	3.07	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.31308	-0.9948	10	0.59425	D	0.04	-6.6016	19.7905	0.96454	0.0:1.0:0.0:0.0	.	230	Q5VZV1	MT21C_HUMAN	N	230	ENSP00000267273:D230N	ENSP00000267273:D230N	D	-	1	0	METTL21C	102136489	1.000000	0.71417	0.378000	0.26068	0.814000	0.46013	7.447000	0.80620	2.691000	0.91804	0.650000	0.86243	GAC		0.433	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		31	158	0	0	0	1	0	31	158				
ADRBK1	156	broad.mit.edu	37	11	67049022	67049022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049022G>A	ENST00000308595.5	+	9	1030	c.740G>A	c.(739-741)aGc>aAc	p.S247N	ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCGCTCGTCAGCACTGGGGTG	0.667																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(739-741)aGc>aAc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						49.0	46.0	47.0					11																	67049022		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049022G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.740G>A	11.37:g.67049022G>A	ENSP00000312262:p.Ser247Asn					ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	p.S247N	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	1030	+			247			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.740G>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	7.651	0.682851	0.14907	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.64618	-0.11;-0.11	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	N	0.20530	0.585	0.58432	D	0.999996	B;B	0.22604	0.072;0.023	B;B	0.28139	0.086;0.032	T	0.43861	-0.9365	10	0.02654	T	1	-15.598	18.674	0.91523	0.0:0.0:1.0:0.0	.	247;247	P25098;E9PRV7	ARBK1_HUMAN;.	N	247	ENSP00000312262:S247N;ENSP00000434126:S247N	ENSP00000312262:S247N	S	+	2	0	ADRBK1	66805598	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	9.008000	0.93601	2.493000	0.84123	0.591000	0.81541	AGC		0.667	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		12	302	0	0	0	1	0	12	302				
CNTNAP3	79937	broad.mit.edu	37	9	39133095	39133095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133095G>A	ENST00000297668.6	-	13	1987	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	CNTNAP3_ENST00000358144.2_Silent_p.P550P|CNTNAP3_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000323947.7_Silent_p.P544P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	638	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCACCGCGTCGGGGCCACCGT	0.711																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1912-1914)ccC>ccT		contactin associated protein-like 3							6.0	6.0	6.0					9																	39133095		1577	2935	4512	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39133095G>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1914C>T	9.37:g.39133095G>A						CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000358144.2_Silent_p.P550P|CNTNAP3_ENST00000323947.7_Silent_p.P544P	p.P638P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	13	1987	-			638			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.1914C>T	CCDS6616.1																																																																																				0.711	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		16	30	0	0	0	1	0	16	30				
ZSCAN12	9753	broad.mit.edu	37	6	28365827	28365827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28365827G>A	ENST00000361028.1	-	2	501	c.356C>T	c.(355-357)aCt>aTt	p.T119I	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.T119I			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	119	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						CTCCAGCACAGTCACCACCTC	0.522																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(355-357)aCt>aTt		zinc finger and SCAN domain containing 12							144.0	117.0	125.0					6																	28365827		692	1591	2283	SO:0001583	missense	9753							g.chr6:28365827G>A	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.356C>T	6.37:g.28365827G>A	ENSP00000354305:p.Thr119Ile					ZSCAN12_ENST00000396827.3_Missense_Mutation_p.T119I	p.T119I							2	501	-								O43724	Missense_Mutation	SNP	ENST00000361028.1	37	c.356C>T		.	.	.	.	.	.	.	.	.	.	G	12.68	2.009819	0.35415	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.06218	3.33;3.33	3.34	1.44	0.22558	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.479877	0.15636	N	0.252140	T	0.02970	0.0088	M	0.79343	2.45	0.28367	N	0.920183	B;B	0.21606	0.058;0.058	B;B	0.20384	0.029;0.017	T	0.31364	-0.9946	10	0.72032	D	0.01	.	4.2605	0.10739	0.1251:0.0:0.6526:0.2222	.	119;119	A8K187;O43309	.;ZSC12_HUMAN	I	119	ENSP00000354305:T119I;ENSP00000380039:T119I	ENSP00000354305:T119I	T	-	2	0	ZSCAN12	28473806	0.007000	0.16637	0.984000	0.44739	0.970000	0.65996	0.515000	0.22801	0.203000	0.20529	0.655000	0.94253	ACT		0.522	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		35	204	0	0	0	1	0	35	204				
SLC7A7	9056	broad.mit.edu	37	14	23282626	23282626	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282626C>A	ENST00000397532.3	-	0	507				SLC7A7_ENST00000397528.4_De_novo_Start_OutOfFrame|SLC7A7_ENST00000285850.7_De_novo_Start_OutOfFrame|SLC7A7_ENST00000555702.1_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397529.2_De_novo_Start_OutOfFrame|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAGGAAACCCTTCACCAGCT	0.542																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20								solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							42.0	37.0	39.0					14																	23282626		2147	4202	6349			9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23282626C>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.-19G>T	14.37:g.23282626C>A						SLC7A7_ENST00000285850.7_De_novo_Start_OutOfFrame|SLC7A7_ENST00000555702.1_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397529.2_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397528.4_De_novo_Start_OutOfFrame|SLC7A7_ENST00000554517.1_Intron				Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	0	507	-	all_cancers(95;8.44e-05)							B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Translation_Start_Site	SNP	ENST00000397532.3	37		CCDS9574.1																																																																																				0.542	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			10	266	1	0	3.86212e-05	1	3.93988e-05	10	266				
PCNXL3	399909	broad.mit.edu	37	11	65394998	65394998	+	Missense_Mutation	SNP	G	G	A	rs372127582	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65394998G>A	ENST00000355703.3	+	22	4186	c.3647G>A	c.(3646-3648)cGc>cAc	p.R1216H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1216						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACTACCCGCGCCTCTCCCAG	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		19447	0.0		0.0	False		,,,				2504	0.0041					ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3646-3648)cGc>cAc		pecanex-like 3 (Drosophila)		G	HIS/ARG	0,4100		0,0,2050	175.0	174.0	174.0		3647	5.5	1.0	11		174	1,8367		0,1,4183	no	missense	PCNXL3	NM_032223.2	29	0,1,6233	AA,AG,GG		0.012,0.0,0.0080	benign	1216/2035	65394998	1,12467	2050	4184	6234	SO:0001583	missense	399909					integral to membrane		g.chr11:65394998G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3647G>A	11.37:g.65394998G>A	ENSP00000347931:p.Arg1216His						p.R1216H	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			22	4186	+			1216					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3647G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725067	0.48833	0.0	1.2E-4	ENSG00000197136	ENST00000355703	T	0.06528	3.29	5.47	5.47	0.80525	.	0.181068	0.47455	D	0.000239	T	0.02533	0.0077	N	0.00926	-1.1	0.29813	N	0.831469	B;B	0.16166	0.005;0.016	B;B	0.11329	0.006;0.001	T	0.31668	-0.9935	10	0.09590	T	0.72	.	17.22	0.86955	0.0:0.0:1.0:0.0	.	103;1216	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	H	1216	ENSP00000347931:R1216H	ENSP00000347931:R1216H	R	+	2	0	PCNXL3	65151574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.852000	0.55934	2.735000	0.93741	0.655000	0.94253	CGC		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		176	746	0	0	0	1	0	176	746				
GLRA2	2742	broad.mit.edu	37	X	14625300	14625300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14625300C>A	ENST00000218075.4	+	6	1155	c.625C>A	c.(625-627)Cca>Aca	p.P209T	GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	209					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AAGTGATGGTCCAGTGCAAGT	0.403																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(625-627)Cca>Aca		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						171.0	153.0	159.0					X																	14625300		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14625300C>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.625C>A	X.37:g.14625300C>A	ENSP00000218075:p.Pro209Thr					GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T|GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T	p.P209T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			6	1155	+	Hepatocellular(33;0.128)		209					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.625C>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009569	0.75046	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.143817	0.64402	D	0.000005	D	0.84392	0.5462	M	0.62723	1.935	0.58432	D	0.999999	P;P;P	0.43024	0.798;0.643;0.736	P;B;P	0.52823	0.595;0.188;0.71	D	0.85646	0.1279	10	0.87932	D	0	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	193;209;209	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	120;209;209;193	ENSP00000387756:P120T;ENSP00000218075:P209T;ENSP00000347123:P209T;ENSP00000391606:P193T	ENSP00000218075:P209T	P	+	1	0	GLRA2	14535221	0.993000	0.37304	1.000000	0.80357	0.950000	0.60333	2.720000	0.47252	2.471000	0.83476	0.600000	0.82982	CCA		0.403	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			125	458	1	0	1.40678e-64	1	1.77767e-64	125	458				
LPHN1	22859	broad.mit.edu	37	19	14266186	14266186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14266186G>A	ENST00000340736.6	-	19	3591	c.3294C>T	c.(3292-3294)tgC>tgT	p.C1098C	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1098					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGTAAGGCGCAGTGAAAGA	0.592																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3292-3294)tgC>tgT		latrophilin 1							149.0	141.0	143.0					19																	14266186		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14266186G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3294C>T	19.37:g.14266186G>A						CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000588387.1_RNA	p.C1098C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			19	3591	-			1098					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3294C>T	CCDS32928.1																																																																																				0.592	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		151	680	0	0	0	1	0	151	680				
MFAP4	4239	broad.mit.edu	37	17	19289705	19289705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19289705C>T	ENST00000299610.4	-	3	242	c.158G>A	c.(157-159)gGc>gAc	p.G53D	MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000395592.2_Missense_Mutation_p.G77D|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	53	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGGTACACGCCGTCTGACTG	0.617																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(229-231)gGc>gAc		microfibrillar-associated protein 4							86.0	66.0	73.0					17																	19289705		2203	4300	6503	SO:0001583	missense	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19289705C>T	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.158G>A	17.37:g.19289705C>T	ENSP00000299610:p.Gly53Asp					MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000299610.4_Missense_Mutation_p.G53D	p.G77D	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			3	301	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		53			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	37	c.230G>A	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716638	0.89205	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.35973	1.28;1.28	5.3	5.3	0.74995	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000010	T	0.63189	0.2490	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66846	-0.5820	10	0.59425	D	0.04	.	16.5105	0.84283	0.0:1.0:0.0:0.0	.	53;77	P55083;A8MVM2	MFAP4_HUMAN;.	D	77;53	ENSP00000378957:G77D;ENSP00000299610:G53D	ENSP00000299610:G53D	G	-	2	0	MFAP4	19230298	1.000000	0.71417	0.939000	0.37840	0.784000	0.44337	7.083000	0.76859	2.499000	0.84300	0.555000	0.69702	GGC		0.617	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		32	120	0	0	0	1	0	32	120				
EIF2B5	8893	broad.mit.edu	37	3	183860674	183860674	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183860674G>T	ENST00000273783.3	+	11	1776	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	EIF2B5_ENST00000444495.1_Splice_Site_p.V552L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	552	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGACATCAAAGGTGAGTGGCA	0.507																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.e11+1		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							30.0	35.0	33.0					3																	183860674		2203	4300	6503	SO:0001630	splice_region_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183860674G>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1654+1G>T	3.37:g.183860674G>T						EIF2B5_ENST00000444495.1_Splice_Site_p.V552_splice	p.V552_splice	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		11	1776	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		552			W2.		Q541Z1|Q96D04	Splice_Site	SNP	ENST00000273783.3	37	c.1654_splice	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.925822	0.52759	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.83419	-1.72;-1.72	5.78	5.78	0.91487	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.48174	1.505	0.80722	D	1	B;D	0.54964	0.023;0.969	B;P	0.61275	0.004;0.886	D	0.84377	0.0547	10	0.28530	T	0.3	.	20.0055	0.97434	0.0:0.0:1.0:0.0	.	552;552	E9PC74;Q13144	.;EI2BE_HUMAN	L	552;552;308	ENSP00000273783:V552L;ENSP00000409142:V552L	ENSP00000273783:V552L	V	+	1	0	EIF2B5	185343368	1.000000	0.71417	0.991000	0.47740	0.746000	0.42486	7.329000	0.79170	2.722000	0.93159	0.561000	0.74099	GTG		0.507	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		Missense_Mutation	25	105	1	0	1.55469e-16	1	1.70887e-16	25	105				
HOOK2	29911	broad.mit.edu	37	19	12878833	12878833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12878833C>A	ENST00000397668.3	-	12	1282	c.1209G>T	c.(1207-1209)gaG>gaT	p.E403D	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.E403D	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	403	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCACCTCCTTCTCCTTTGTCA	0.587																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1207-1209)gaG>gaT		hook microtubule-tethering protein 2							148.0	156.0	153.0					19																	12878833		2021	4155	6176	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12878833C>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1209G>T	19.37:g.12878833C>A	ENSP00000380785:p.Glu403Asp					HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.E403D	p.E403D	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			12	1379	-			403			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1209G>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863320	0.71949	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.24151	1.87;1.87	5.07	4.03	0.46877	.	0.112392	0.64402	D	0.000016	T	0.46171	0.1379	M	0.78285	2.405	0.32263	N	0.569944	D;D	0.69078	0.996;0.997	P;D	0.65773	0.897;0.938	T	0.58255	-0.7668	10	0.66056	D	0.02	-17.6222	8.9768	0.35941	0.0:0.8361:0.0:0.1639	.	403;403	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	D	403	ENSP00000380785:E403D;ENSP00000264827:E403D	ENSP00000264827:E403D	E	-	3	2	HOOK2	12739833	0.983000	0.35010	1.000000	0.80357	0.886000	0.51366	0.224000	0.17738	2.363000	0.80096	0.456000	0.33151	GAG		0.587	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		18	1312	1	0	1.11149e-13	1	1.20163e-13	18	1312				
DNAJB11	51726	broad.mit.edu	37	3	186299230	186299230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186299230G>A	ENST00000439351.1	+	6	1456	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	176					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CAAGAGATGCGGACCACCCAG	0.517																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(526-528)cGg>cAg		DnaJ (Hsp40) homolog, subfamily B, member 11							93.0	91.0	91.0					3																	186299230		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299230G>A	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.527G>A	3.37:g.186299230G>A	ENSP00000414398:p.Arg176Gln					DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q	p.R176Q			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	6	1456	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		176					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.527G>A	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240637	0.58995	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67865	-0.29;-0.29	5.85	4.98	0.66077	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.33624	1.015	0.80722	D	1	B	0.27765	0.188	B	0.20184	0.028	T	0.49380	-0.8946	10	0.27082	T	0.32	-15.0608	12.9238	0.58247	0.0784:0.0:0.9216:0.0	.	176	Q9UBS4	DJB11_HUMAN	Q	176	ENSP00000414398:R176Q;ENSP00000265028:R176Q	ENSP00000265028:R176Q	R	+	2	0	DNAJB11	187781924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.467000	0.48044	-0.150000	0.13652	CGG		0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			75	448	0	0	0	1	0	75	448				
GPR98	84059	broad.mit.edu	37	5	89938474	89938474	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89938474G>A	ENST00000405460.2	+	12	2358	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	754					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAACCAAGTGCTGAAATCTG	0.413																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2260-2262)gtG>gtA		G protein-coupled receptor 98							116.0	119.0	118.0					5																	89938474		1805	4076	5881	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89938474G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2262G>A	5.37:g.89938474G>A							p.V754V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	12	2358	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	754					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.2262G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756800	0.15846	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.09	1.0	0.19881	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	2.1616	0.03826	0.2883:0.3898:0.2094:0.1125	.	.	.	.	T	343	.	.	A	+	1	0	GPR98	89974230	0.969000	0.33509	0.949000	0.38748	0.727000	0.41649	0.197000	0.17197	0.158000	0.19367	0.460000	0.39030	GCT		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		29	645	0	0	0	1	0	29	645				
USO1	8615	broad.mit.edu	37	4	76733463	76733463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76733463C>A	ENST00000538159.1	+	24	2761	c.2761C>A	c.(2761-2763)Ctc>Atc	p.L921I	USO1_ENST00000514213.2_Missense_Mutation_p.L897I			O60763	USO1_HUMAN	USO1 vesicle transport factor	912					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCTTGGTGCTCTTGGCCGA	0.333																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2761-2763)Ctc>Atc		USO1 vesicle transport factor							56.0	54.0	55.0					4																	76733463		1833	4085	5918	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76733463C>A	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2761C>A	4.37:g.76733463C>A	ENSP00000440586:p.Leu921Ile					USO1_ENST00000514213.2_Missense_Mutation_p.L897I	p.L921I			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		24	2761	+			912					B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.2761C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096368|4.096368	0.76870|0.76870	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|.	.|.	.|.	5.78|5.78	4.07|4.07	0.47477|0.47477	.|Uso1/p115-like vesicle tethering protein, C-terminal (1);Armadillo-type fold (1);	.|0.068870	.|0.64402	.|D	.|0.000013	.|T	.|0.75932	.|0.3917	M|M	0.70595|0.70595	2.14|2.14	0.47407|0.47407	D|D	0.999417|0.999417	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.993;0.998	.|T	.|0.74463	.|-0.3657	.|9	.|0.38643	.|T	.|0.18	.|.	12.5974|12.5974	0.56478|0.56478	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	.|921;912	.|F5GYR8;O60763	.|.;USO1_HUMAN	X|I	587|747;921;897;840	.|.	.|ENSP00000264904:L840I	C|L	+|+	3|1	2|0	USO1|USO1	76952487|76952487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.342000|3.342000	0.52159|0.52159	0.813000|0.813000	0.34350|0.34350	-0.157000|-0.157000	0.13467|0.13467	TGC|CTC		0.333	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		7	46	1	0	0.000157383	1	0.000159814	7	46				
SPTBN5	51332	broad.mit.edu	37	15	42164561	42164561	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42164561G>A	ENST00000320955.6	-	27	5331	c.5104C>T	c.(5104-5106)Cgt>Tgt	p.R1702C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1702					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCACCACACGCTGCTGCTCA	0.612																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5104-5106)Cgt>Tgt		spectrin, beta, non-erythrocytic 5							36.0	40.0	39.0					15																	42164561		2110	4252	6362	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42164561G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5104C>T	15.37:g.42164561G>A	ENSP00000317790:p.Arg1702Cys						p.R1702C	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	27	5331	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1702						Missense_Mutation	SNP	ENST00000320955.6	37	c.5104C>T		.	.	.	.	.	.	.	.	.	.	.	14.65	2.597539	0.46318	.	.	ENSG00000137877	ENST00000320955	T	0.51071	0.72	4.12	-8.23	0.01033	.	2.359520	0.01718	N	0.028136	T	0.51500	0.1678	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.54174	0.744	T	0.63932	-0.6525	10	0.56958	D	0.05	.	11.1247	0.48310	0.0:0.2549:0.581:0.1641	.	1702	Q9NRC6	SPTN5_HUMAN	C	1702	ENSP00000317790:R1702C	ENSP00000317790:R1702C	R	-	1	0	SPTBN5	39951853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.166000	0.03129	-1.364000	0.02161	-1.086000	0.02197	CGT		0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		29	82	0	0	0	1	0	29	82				
MUC5B	727897	broad.mit.edu	37	11	1279584	1279584	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1279584G>T	ENST00000529681.1	+	43	16638	c.16580G>T	c.(16579-16581)gGc>gTc	p.G5527V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5530V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5527	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGTACAATGGCACCTTCTAC	0.627																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16588-16590)gGc>gTc		mucin 5B, oligomeric mucus/gel-forming							50.0	58.0	55.0					11																	1279584		2072	4194	6266	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1279584G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16580G>T	11.37:g.1279584G>T	ENSP00000436812:p.Gly5527Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.G5527V	p.G5530V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	43	16647	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5527			VWFC 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16589G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.870	0.727900	0.15507	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.73789	-0.78;-0.78;-0.78	4.91	1.72	0.24424	.	.	.	.	.	T	0.78966	0.4367	M	0.61703	1.905	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.64144	0.922;0.922	T	0.65335	-0.6193	9	0.87932	D	0	.	3.7086	0.08411	0.2141:0.0:0.5932:0.1926	.	5864;5530	A7Y9J9;E9PBJ0	.;.	V	5527;5530;5471;426;5239;72	ENSP00000436812:G5527V;ENSP00000415793:G5530V;ENSP00000434539:G72V	ENSP00000343037:G5471V	G	+	2	0	MUC5B	1236160	0.003000	0.15002	0.045000	0.18777	0.015000	0.08874	0.981000	0.29526	0.564000	0.29238	0.462000	0.41574	GGC		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		17	90	1	0	3.99206e-14	1	4.32713e-14	17	90				
UHRF1BP1	54887	broad.mit.edu	37	6	34803134	34803134	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34803134C>T	ENST00000192788.5	+	7	904	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	UHRF1BP1_ENST00000452449.2_Silent_p.L245L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	245							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCTCTGGGTGCTGACTGACTC	0.502																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(733-735)Ctg>Ttg		UHRF1 binding protein 1							127.0	129.0	128.0					6																	34803134		2110	4234	6344	SO:0001819	synonymous_variant	54887							g.chr6:34803134C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.733C>T	6.37:g.34803134C>T						UHRF1BP1_ENST00000452449.2_Silent_p.L245L	p.L245L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			7	904	+			245					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.733C>T	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		78	342	0	0	0	1	0	78	342				
NMT2	9397	broad.mit.edu	37	10	15174860	15174860	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15174860G>A	ENST00000378165.4	-	6	755	c.675C>T	c.(673-675)gtC>gtT	p.V225V	NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000378150.1_Silent_p.V212V|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Silent_p.V37V	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	225					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTATGAACCCGACCAGTTTTT	0.458																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(673-675)gtC>gtT		N-myristoyltransferase 2							89.0	88.0	88.0					10																	15174860		2203	4300	6503	SO:0001819	synonymous_variant	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15174860G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.675C>T	10.37:g.15174860G>A						NMT2_ENST00000378150.1_Silent_p.V212V|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Silent_p.V37V|NMT2_ENST00000535341.1_Silent_p.V212V	p.V225V	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			6	755	-			225					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Silent	SNP	ENST00000378165.4	37	c.675C>T	CCDS7109.1																																																																																				0.458	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		57	471	0	0	0	1	0	57	471				
PI4K2A	55361	broad.mit.edu	37	10	99433364	99433364	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99433364A>C	ENST00000370631.3	+	9	1362	c.1305A>C	c.(1303-1305)aaA>aaC	p.K435N	PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N|PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	435	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGGCCTTGAAAGACAACAAGA	0.542																																						ENST00000370631.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(1303-1305)aaA>aaC		phosphatidylinositol 4-kinase type 2 alpha							105.0	98.0	101.0					10																	99433364		2203	4300	6503	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99433364A>C	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1305A>C	10.37:g.99433364A>C	ENSP00000359665:p.Lys435Asn					PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N|PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N	p.K435N	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	9	1362	+		Colorectal(252;0.162)	435			PI3K/PI4K.		D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.1305A>C	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196353	0.58126	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77098	-1.07;-1.07;-1.07	5.23	2.91	0.33838	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.111374	0.64402	D	0.000011	D	0.83691	0.5309	M	0.76838	2.35	0.51012	D	0.999903	P;P;B	0.50617	0.937;0.937;0.169	P;P;B	0.59221	0.854;0.854;0.178	T	0.82438	-0.0457	10	0.72032	D	0.01	-8.1753	7.9555	0.30040	0.7768:0.0:0.2232:0.0	.	405;405;435	E9PAM4;B4DEP8;Q9BTU6	.;.;P4K2A_HUMAN	N	405;435;405	ENSP00000452243:K405N;ENSP00000359665:K435N;ENSP00000359683:K405N	ENSP00000359665:K435N	K	+	3	2	PI4K2A;RP11-548K23.11	99423354	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	0.394000	0.20834	0.455000	0.26910	0.533000	0.62120	AAA		0.542	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		124	467	0	0	0	1	0	124	467				
MUC16	94025	broad.mit.edu	37	19	9046155	9046155	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046155G>T	ENST00000397910.4	-	5	35679	c.35476C>A	c.(35476-35478)Ctt>Att	p.L11826I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11828	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTTACAAGTAGGGTGAAG	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35476-35478)Ctt>Att		mucin 16, cell surface associated							69.0	69.0	69.0					19																	9046155		2006	4172	6178	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046155G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35476C>A	19.37:g.9046155G>T	ENSP00000381008:p.Leu11826Ile						p.L11826I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35679	-			11828			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35476C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604682	0.14002	.	.	ENSG00000181143	ENST00000397910	T	0.03496	3.91	2.32	-1.49	0.08718	.	.	.	.	.	T	0.02848	0.0085	L	0.29908	0.895	.	.	.	P	0.46020	0.871	B	0.41036	0.346	T	0.39333	-0.9619	8	0.87932	D	0	.	3.3382	0.07108	0.2855:0.0:0.5162:0.1983	.	11826	B5ME49	.	I	11826	ENSP00000381008:L11826I	ENSP00000381008:L11826I	L	-	1	0	MUC16	8907155	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.672000	0.05244	-0.245000	0.09625	0.305000	0.20034	CTT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		54	192	1	0	3.77171e-38	1	4.54164e-38	54	192				
AASS	10157	broad.mit.edu	37	7	121726195	121726195	+	Silent	SNP	G	G	A	rs145793131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121726195G>A	ENST00000393376.1	-	18	2150	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.A685A			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	685	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGGACGTAACGGCATCAAGAA	0.423																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(2053-2055)gcC>gcT		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)	G		4,4402	8.1+/-20.4	0,4,2199	72.0	69.0	70.0		2055	-12.2	0.0	7	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AASS	NM_005763.3		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		685/927	121726195	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121726195G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2055C>T	7.37:g.121726195G>A						AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.A685A	p.A685A			Q9UDR5	AASS_HUMAN			18	2150	-			685			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.2055C>T	CCDS5783.1																																																																																				0.423	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		34	137	0	0	0	1	0	34	137				
UBASH3B	84959	broad.mit.edu	37	11	122671895	122671895	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122671895G>T	ENST00000284273.5	+	11	1825		c.e11-1			NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B						negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTACCCCTAAGGTTTACAACA	0.418																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.e11-1		ubiquitin associated and SH3 domain containing B							93.0	93.0	93.0					11																	122671895		2202	4299	6501	SO:0001630	splice_region_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122671895G>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1451-1G>T	11.37:g.122671895G>T								NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	11	1825	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)						Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Splice_Site	SNP	ENST00000284273.5	37		CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120793	0.77436	.	.	ENSG00000154127	ENST00000284273	.	.	.	5.47	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7391	0.62836	0.0747:0.0:0.9253:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBASH3B	122177105	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	9.447000	0.97595	1.289000	0.44618	0.655000	0.94253	.		0.418	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	Intron	16	520	1	0	2.23348e-06	1	2.30073e-06	16	520				
MROH8	140699	broad.mit.edu	37	20	35731106	35731106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35731106C>T	ENST00000400441.3	-	24	3112	c.3113G>A	c.(3112-3114)gGc>gAc	p.G1038D	MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.G867D			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	AGAGGACCTGCCCATGAGCTT	0.512																																						ENST00000400441.3																			0											c.(3112-3114)gGc>gAc		maestro heat-like repeat family member 8							257.0	248.0	251.0					20																	35731106		1991	4165	6156	SO:0001583	missense	140699							g.chr20:35731106C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.3113G>A	20.37:g.35731106C>T	ENSP00000383291:p.Gly1038Asp					MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.G867D|MROH8_ENST00000441008.2_3'UTR	p.G1038D							24	3112	-								Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.3113G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.23|13.23	2.175221|2.175221	0.38413|0.38413	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000400441;ENST00000217333	.|T;T	.|0.04234	.|4.07;3.67	5.32|5.32	0.312|0.312	0.15837|0.15837	.|.	.|0.878430	.|0.09964	.|N	.|0.733062	T|T	0.04452|0.04452	0.0122|0.0122	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32829	.|0.267;0.386	.|B;B	.|0.30495	.|0.054;0.116	T|T	0.40459|0.40459	-0.9562|-0.9562	5|10	.|0.48119	.|T	.|0.1	-0.0213|-0.0213	4.2003|4.2003	0.10462|0.10462	0.316:0.4853:0.0:0.1987|0.316:0.4853:0.0:0.1987	.|.	.|1038;872	.|E7ETR9;Q9H579-2	.|.;.	T|D	1065|1038;867	.|ENSP00000383291:G1038D;ENSP00000217333:G867D	.|ENSP00000217333:G867D	A|G	-|-	1|2	0|0	C20orf132|C20orf132	35164520|35164520	0.013000|0.013000	0.17824|0.17824	0.087000|0.087000	0.20705|0.20705	0.252000|0.252000	0.25951|0.25951	0.105000|0.105000	0.15333|0.15333	0.174000|0.174000	0.19809|0.19809	0.555000|0.555000	0.69702|0.69702	GCA|GGC		0.512	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		273	1193	0	0	0	1	0	273	1193				
UHRF2	115426	broad.mit.edu	37	9	6477759	6477759	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6477759A>G	ENST00000276893.5	+	6	1279	c.1111A>G	c.(1111-1113)Att>Gtt	p.I371V		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	371					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GGCTTATCATATTTACTGTCT	0.393																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(1111-1113)Att>Gtt		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							204.0	182.0	189.0					9																	6477759		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6477759A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1111A>G	9.37:g.6477759A>G	ENSP00000276893:p.Ile371Val						p.I371V	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	6	1279	+		Acute lymphoblastic leukemia(23;0.158)	371					Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.1111A>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973270	0.74246	.	.	ENSG00000147854	ENST00000276893	T	0.56941	0.43	4.69	3.55	0.40652	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056525	0.64402	N	0.000002	T	0.60958	0.2309	M	0.64997	1.995	0.80722	D	1	B;P	0.46859	0.418;0.885	B;P	0.55222	0.326;0.771	T	0.59306	-0.7479	10	0.48119	T	0.1	-8.4574	10.0363	0.42131	0.92:0.0:0.08:0.0	.	148;371	B3KV82;Q96PU4	.;UHRF2_HUMAN	V	371	ENSP00000276893:I371V	ENSP00000276893:I371V	I	+	1	0	UHRF2	6467759	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.352000	0.79404	0.676000	0.31285	-0.333000	0.08304	ATT		0.393	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		27	459	0	0	0	1	0	27	459				
RAPGEF6	51735	broad.mit.edu	37	5	130788766	130788766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130788766C>A	ENST00000509018.1	-	21	3386	c.3181G>T	c.(3181-3183)Gct>Tct	p.A1061S	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1061	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACATCATAGCTGGGTCCATG	0.343																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3181-3183)Gct>Tct		Rap guanine nucleotide exchange factor (GEF) 6							118.0	120.0	119.0					5																	130788766		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130788766C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3181G>T	5.37:g.130788766C>A	ENSP00000421684:p.Ala1061Ser					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S|FNIP1_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S	p.A1061S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	21	3386	-			1061			Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.3181G>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536943	0.85812	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.29142	1.83;1.69;1.69;1.78;1.58;1.61;1.92	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.35341	1.055	0.80722	D	1	P;B;D;D;D;D;B	0.89917	0.942;0.23;0.966;1.0;1.0;0.999;0.119	P;B;P;D;D;D;B	0.87578	0.816;0.168;0.832;0.997;0.998;0.993;0.168	T	0.35871	-0.9771	10	0.41790	T	0.15	.	18.5281	0.90980	0.0:1.0:0.0:0.0	.	1061;1061;1061;776;1111;1066;1061	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	S	1061;1066;1061;1061;1066;776;1061;1111	ENSP00000421684:A1061S;ENSP00000309298:A1066S;ENSP00000426081:A1061S;ENSP00000296859:A1061S;ENSP00000426910:A776S;ENSP00000311419:A1061S;ENSP00000426948:A1111S	ENSP00000426948:A1111S	A	-	1	0	RAPGEF6;FNIP1	130816665	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.814000	0.86154	2.460000	0.83146	0.467000	0.42956	GCT		0.343	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		65	341	1	0	3.12118e-38	1	3.75939e-38	65	341				
FAM193B	54540	broad.mit.edu	37	5	176959576	176959576	+	Silent	SNP	G	G	A	rs536461643	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176959576G>A	ENST00000514747.1	-	5	1191	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000443375.2_Silent_p.C268C	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	381						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CATCTGCCTCGCAGGGCTGGG	0.617													G|||	5	0.000998403	0.0	0.0	5008	,	,		19912	0.0		0.0	False		,,,				2504	0.0051					ENST00000443375.2																			0				kidney(1)|large_intestine(3)	4						c.(802-804)tgC>tgT		family with sequence similarity 193, member B							20.0	24.0	23.0					5																	176959576		2008	4183	6191	SO:0001819	synonymous_variant	54540							g.chr5:176959576G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1143C>T	5.37:g.176959576G>A						FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000514747.1_Silent_p.C381C	p.C268C			Q6IPW0	Q6IPW0_HUMAN			6	2362	-			406					E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	c.804C>T	CCDS54954.1																																																																																				0.617	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		8	47	0	0	0	1	0	8	47				
PCBP1	5093	broad.mit.edu	37	2	70315305	70315305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315305C>T	ENST00000303577.5	+	1	721	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	144	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CTCCACCGAGCGGGCCATCAC	0.622																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(430-432)Cgg>Tgg		poly(rC) binding protein 1							49.0	50.0	49.0					2																	70315305		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315305C>T		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.430C>T	2.37:g.70315305C>T	ENSP00000305556:p.Arg144Trp					PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	p.R144W	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	721	+			144			KH 2.		Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.430C>T	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025764	0.35701	.	.	ENSG00000169564	ENST00000303577	T	0.36340	1.26	4.03	2.21	0.28008	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.49133	0.1539	M	0.91717	3.235	0.80722	D	1	P	0.40000	0.698	P	0.44394	0.448	T	0.54153	-0.8336	10	0.87932	D	0	.	7.5355	0.27708	0.0:0.7348:0.1689:0.0963	.	144	Q15365	PCBP1_HUMAN	W	144	ENSP00000305556:R144W	ENSP00000305556:R144W	R	+	1	2	PCBP1	70168809	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.719000	0.25881	0.660000	0.30964	0.650000	0.86243	CGG		0.622	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		111	306	0	0	0	1	0	111	306				
KSR2	283455	broad.mit.edu	37	12	117914325	117914325	+	Silent	SNP	G	G	A	rs202148025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117914325G>A	ENST00000339824.5	-	17	3253	c.2526C>T	c.(2524-2526)ccC>ccT	p.P842P	KSR2_ENST00000425217.1_Silent_p.P813P|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCTGTGTCGGGGGACAGCT	0.602																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2437-2439)ccC>ccT		kinase suppressor of ras 2		G		0,4106		0,0,2053	62.0	74.0	70.0		2439	-11.6	0.2	12		70	2,8406		0,2,4202	no	coding-synonymous	KSR2	NM_173598.4		0,2,6255	AA,AG,GG		0.0238,0.0,0.016		813/922	117914325	2,12512	2053	4204	6257	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117914325G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2526C>T	12.37:g.117914325G>A						KSR2_ENST00000339824.5_Silent_p.P842P|KSR2_ENST00000302438.5_3'UTR	p.P813P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			17	2493	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		842			Protein kinase.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.2439C>T																																																																																					0.602	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		14	39	0	0	0	1	0	14	39				
MUC5B	727897	broad.mit.edu	37	11	1258188	1258188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1258188G>A	ENST00000529681.1	+	25	3149	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D1034N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1031	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTTCGACGACAATGCCAT	0.672																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(3100-3102)Gac>Aac		mucin 5B, oligomeric mucus/gel-forming							29.0	38.0	35.0					11																	1258188		2133	4228	6361	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1258188G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3091G>A	11.37:g.1258188G>A	ENSP00000436812:p.Asp1031Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.D1031N	p.D1034N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	25	3158	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1031			VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.3100G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.57595	0.39;0.39	4.38	3.47	0.39725	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.42988	0.1227	L	0.41710	1.295	0.32694	N	0.513784	P;B;P	0.46142	0.873;0.26;0.5	B;B;B	0.38296	0.27;0.057;0.155	T	0.57734	-0.7760	9	0.87932	D	0	.	12.4879	0.55883	0.0825:0.0:0.9175:0.0	.	1031;1724;1034	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	1031;1034;1032;1101	ENSP00000436812:D1031N;ENSP00000415793:D1034N	ENSP00000343037:D1032N	D	+	1	0	MUC5B	1214764	1.000000	0.71417	0.805000	0.32314	0.093000	0.18481	4.749000	0.62155	0.834000	0.34852	-0.368000	0.07277	GAC		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		17	57	0	0	0	1	0	17	57				
DIDO1	11083	broad.mit.edu	37	20	61512121	61512121	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512121G>A	ENST00000266070.4	-	16	5512	c.5187C>T	c.(5185-5187)ccC>ccT	p.P1729P	DIDO1_ENST00000395343.1_Silent_p.P1729P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1729	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCCTCGCCGGGTCTGGCCT	0.637																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5185-5187)ccC>ccT		death inducer-obliterator 1							56.0	68.0	64.0					20																	61512121		2203	4297	6500	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512121G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5187C>T	20.37:g.61512121G>A						DIDO1_ENST00000395343.1_Silent_p.P1729P	p.P1729P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5512	-	Breast(26;5.68e-08)		1729			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5187C>T	CCDS33506.1																																																																																				0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		143	589	0	0	0	1	0	143	589				
ATP7A	538	broad.mit.edu	37	X	77244750	77244750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77244750C>A	ENST00000341514.6	+	4	787	c.632C>A	c.(631-633)gCt>gAt	p.A211D	ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	211	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATCAAGAAGCTACTATTGTT	0.338																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(631-633)gCt>gAt		ATPase, Cu++ transporting, alpha polypeptide							34.0	36.0	35.0					X																	77244750		2203	4293	6496	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77244750C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.632C>A	X.37:g.77244750C>A	ENSP00000345728:p.Ala211Asp					ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D|ATP7A_ENST00000350425.4_Intron	p.A211D	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			4	787	+			211			HMA 2.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.632C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658389	0.67586	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.87809	-2.3;-2.3	4.68	4.68	0.58851	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	U	0.000000	D	0.96571	0.8881	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98962	1.0798	10	0.87932	D	0	-4.844	17.0033	0.86386	0.0:1.0:0.0:0.0	.	211;221	Q04656;Q59HD1	ATP7A_HUMAN;.	D	211;211;211;221	ENSP00000343026:A211D;ENSP00000345728:A211D	ENSP00000345728:A211D	A	+	2	0	ATP7A	77131406	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.081000	0.71309	1.933000	0.56026	0.515000	0.50301	GCT		0.338	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		47	171	1	0	2.13384e-23	1	2.42615e-23	47	171				
PCLO	27445	broad.mit.edu	37	7	82453599	82453599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453599G>A	ENST00000333891.9	-	19	14886	c.14549C>T	c.(14548-14550)tCt>tTt	p.S4850F	PCLO_ENST00000423517.2_Missense_Mutation_p.S4850F|PCLO_ENST00000426442.2_5'UTR	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						TTTGATAACAGATGGCTTTGG	0.418																																						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.(14548-14550)tCt>tTt		piccolo presynaptic cytomatrix protein							106.0	101.0	103.0					7																	82453599		1979	4163	6142	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.chr7:82453599G>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.14549C>T	7.37:g.82453599G>A	ENSP00000334319:p.Ser4850Phe					PCLO_ENST00000333891.8_Missense_Mutation_p.S4850F|PCLO_ENST00000426442.2_5'UTR	p.S4850F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			19	14886	-			4712						Missense_Mutation	SNP	ENST00000333891.9	37	c.14549C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916034	0.52546	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.20069	2.15;2.1	5.48	5.48	0.80851	.	.	.	.	.	T	0.39091	0.1065	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.91635	0.999;0.999;0.996;0.991	T	0.18618	-1.0331	9	0.87932	D	0	.	19.3454	0.94361	0.0:0.0:1.0:0.0	.	4850;4850;271;338	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	F	4850;4850;337	ENSP00000334319:S4850F;ENSP00000388393:S4850F	ENSP00000334319:S4850F	S	-	2	0	PCLO	82291535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.583000	0.87209	0.591000	0.81541	TCT		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		30	109	0	0	0	1	0	30	109				
SLC6A15	55117	broad.mit.edu	37	12	85255611	85255611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85255611C>A	ENST00000266682.5	-	12	2534	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.E558*|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	665					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCACAGGCTCTTTCAGGACC	0.413																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1993-1995)Gag>Tag		solute carrier family 6 (neutral amino acid transporter), member 15							121.0	122.0	122.0					12																	85255611		2203	4300	6503	SO:0001587	stop_gained	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255611C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1993G>T	12.37:g.85255611C>A	ENSP00000266682:p.Glu665*					SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.E558*	p.E665*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2534	-			665					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Nonsense_Mutation	SNP	ENST00000266682.5	37	c.1993G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	40	7.971531	0.98588	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	.	.	.	5.85	4.94	0.65067	.	0.246459	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.8652	0.86027	0.0:0.8717:0.1283:0.0	.	.	.	.	X	665;558;143	.	ENSP00000266682:E665X	E	-	1	0	SLC6A15	83779742	1.000000	0.71417	0.939000	0.37840	0.988000	0.76386	7.364000	0.79526	1.417000	0.47077	0.655000	0.94253	GAG		0.413	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		110	463	1	0	2.90702e-44	1	3.55655e-44	110	463				
IMPG1	3617	broad.mit.edu	37	6	76660430	76660430	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660430T>C	ENST00000369950.3	-	13	1862	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	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)				AGTGGTGATATACTGTAAAGC	0.502																																					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.(1672-1674)tAt>tGt		interphotoreceptor matrix proteoglycan 1							92.0	81.0	85.0					6																	76660430		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660430T>C	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.1673A>G	6.37:g.76660430T>C	ENSP00000358966:p.Tyr558Cys					IMPG1_ENST00000369963.3_3'UTR	p.Y558C	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1862	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	558						Missense_Mutation	SNP	ENST00000369950.3	37	c.1673A>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678671	0.68042	.	.	ENSG00000112706	ENST00000369950	T	0.22134	1.97	5.67	3.19	0.36642	.	0.225394	0.31415	N	0.007695	T	0.29061	0.0722	M	0.74258	2.255	0.46061	D	0.998847	D	0.71674	0.998	P	0.62740	0.906	T	0.06427	-1.0827	10	0.59425	D	0.04	.	11.2619	0.49089	0.2428:0.0:0.0:0.7572	.	558	Q17R60	IMPG1_HUMAN	C	558	ENSP00000358966:Y558C	ENSP00000358966:Y558C	Y	-	2	0	IMPG1	76717150	1.000000	0.71417	0.003000	0.11579	0.467000	0.32768	4.689000	0.61723	0.374000	0.24650	0.528000	0.53228	TAT		0.502	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		49	235	0	0	0	1	0	49	235				
B4GALNT4	338707	broad.mit.edu	37	11	380410	380410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380410G>A	ENST00000329962.6	+	18	2834	c.2834G>A	c.(2833-2835)cGc>cAc	p.R945H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	945					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTCATGCGCCTGAGCTGC	0.682																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2833-2835)cGc>cAc		beta-1,4-N-acetyl-galactosaminyl transferase 4							41.0	32.0	35.0					11																	380410		2203	4295	6498	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380410G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2834G>A	11.37:g.380410G>A	ENSP00000328277:p.Arg945His						p.R945H	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2834	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	945					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2834G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.633137	0.87660	.	.	ENSG00000182272	ENST00000329962	T	0.15487	2.42	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	M	0.88450	2.955	0.50039	D	0.99984	D	0.89917	1.0	D	0.85130	0.997	T	0.61903	-0.6967	10	0.72032	D	0.01	-25.972	16.2551	0.82510	0.0:0.0:1.0:0.0	.	945	Q76KP1	B4GN4_HUMAN	H	945	ENSP00000328277:R945H	ENSP00000328277:R945H	R	+	2	0	B4GALNT4	370410	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.399000	0.97285	2.118000	0.64928	0.561000	0.74099	CGC		0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		26	107	0	0	0	1	0	26	107				
COBL	23242	broad.mit.edu	37	7	51097021	51097021	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51097021T>C	ENST00000265136.7	-	10	1937	c.1772A>G	c.(1771-1773)gAa>gGa	p.E591G	COBL_ENST00000395542.2_Missense_Mutation_p.E673G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	591					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTTGCCTTTTCATGGGGCTG	0.537																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2017-2019)gAa>gGa		cordon-bleu WH2 repeat protein							69.0	59.0	62.0					7																	51097021		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51097021T>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1772A>G	7.37:g.51097021T>C	ENSP00000265136:p.Glu591Gly					COBL_ENST00000265136.7_Missense_Mutation_p.E591G	p.E673G			O75128	COBL_HUMAN			12	2202	-	Glioma(55;0.08)		591					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2018A>G	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.93|11.93	1.784582|1.784582	0.31593|0.31593	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306|ENST00000452534	T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15|.	5.59|5.59	-6.78|-6.78	0.01721|0.01721	.|.	6.206590|.	0.00725|.	N|.	0.000909|.	T|.	0.06325|.	0.0163|.	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|.	0.29305|.	-1.0016|.	10|.	0.22706|.	T|.	0.39|.	.|.	1.6637|1.6637	0.02797|0.02797	0.419:0.164:0.2654:0.1516|0.419:0.164:0.2654:0.1516	.|.	591;648;591;673;133|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	G|W	591;483;476;673;89|566	ENSP00000265136:E591G;ENSP00000401204:E483G;ENSP00000413498:E476G;ENSP00000378912:E673G|.	ENSP00000265136:E591G|.	E|X	-|-	2|3	0|0	COBL|COBL	51064515|51064515	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.893000|-0.893000	0.04127|0.04127	-0.959000|-0.959000	0.03618|0.03618	-0.850000|-0.850000	0.03035|0.03035	GAA|TGA		0.537	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		8	279	0	0	0	1	0	8	279				
HIST1H2AA	221613	broad.mit.edu	37	6	25726479	25726479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25726479C>T	ENST00000297012.3	-	1	311	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	93						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTATTGAGTTCCTCATCATTG	0.542																																						ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(277-279)Gaa>Aaa		histone cluster 1, H2aa							301.0	254.0	270.0					6																	25726479		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726479C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.277G>A	6.37:g.25726479C>T	ENSP00000297012:p.Glu93Lys						p.E93K	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	311	-			93						Missense_Mutation	SNP	ENST00000297012.3	37	c.277G>A	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959682	0.34565	.	.	ENSG00000164508	ENST00000297012	T	0.51325	0.71	3.65	2.78	0.32641	Histone-fold (2);Histone H2A (1);	0.000000	0.50627	D	0.000116	T	0.67571	0.2907	H	0.95470	3.675	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	T	0.74907	-0.3504	10	0.87932	D	0	.	9.4106	0.38489	0.0:0.8916:0.0:0.1084	.	93	Q96QV6	H2A1A_HUMAN	K	93	ENSP00000297012:E93K	ENSP00000297012:E93K	E	-	1	0	HIST1H2AA	25834458	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	5.388000	0.66249	1.133000	0.42147	-0.142000	0.14014	GAA		0.542	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		179	700	0	0	0	1	0	179	700				
CHRM4	1132	broad.mit.edu	37	11	46407334	46407334	+	Silent	SNP	C	C	A	rs200458397		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46407334C>A	ENST00000433765.2	-	1	773	c.774G>T	c.(772-774)ccG>ccT	p.P258P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	258					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCCCCGGGCGGGGGCTTCT	0.687																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(772-774)ccG>ccT		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						11.0	13.0	12.0					11																	46407334		1860	4052	5912	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407334C>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.774G>T	11.37:g.46407334C>A							p.P258P	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	773	-			258					B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.774G>T	CCDS44581.1																																																																																				0.687	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		5	77	1	0	0.014758	1	0.0148251	5	77				
ZNF225	7768	broad.mit.edu	37	19	44622685	44622685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44622685T>G	ENST00000262894.6	+	4	473	c.193T>G	c.(193-195)Ttt>Gtt	p.F65V	ZNF225_ENST00000592780.1_Missense_Mutation_p.F65V|ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAGAAAAGTTTTGGATGAT	0.428																																						ENST00000592780.1																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(193-195)Ttt>Gtt		zinc finger protein 225							79.0	76.0	77.0					19																	44622685		2203	4300	6503	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44622685T>G	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.193T>G	19.37:g.44622685T>G	ENSP00000262894:p.Phe65Val					ZNF225_ENST00000262894.6_Missense_Mutation_p.F65V|ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V	p.F65V			Q9UK10	ZN225_HUMAN			4	414	+		Prostate(69;0.0352)|all_neural(266;0.202)	65			KRAB.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.193T>G	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	T	1.494	-0.553791	0.03996	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.06068	3.35	1.93	-0.787	0.10943	Krueppel-associated box (2);	.	.	.	.	T	0.02304	0.0071	N	0.03268	-0.37	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.48514	-0.9029	9	0.16420	T	0.52	.	4.2847	0.10850	0.0:0.4979:0.0:0.5021	.	65	Q9UK10	ZN225_HUMAN	V	65;29	ENSP00000262894:F65V	ENSP00000262894:F65V	F	+	1	0	ZNF225	49314525	0.540000	0.26410	0.001000	0.08648	0.007000	0.05969	0.479000	0.22228	-0.130000	0.11599	0.454000	0.30748	TTT		0.428	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			42	211	0	0	0	1	0	42	211				
PIH1D1	55011	broad.mit.edu	37	19	49954801	49954801	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49954801G>A	ENST00000262265.5	-	1	266	c.31C>T	c.(31-33)Cta>Tta	p.L11L	ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000455361.2_5'Flank|PIH1D1_ENST00000596049.1_Silent_p.L11L|ALDH16A1_ENST00000433981.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	11					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCGCTTAGCCCCATTCCC	0.612																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(31-33)Cta>Tta		PIH1 domain containing 1							88.0	75.0	80.0					19																	49954801		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49954801G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.31C>T	19.37:g.49954801G>A						PIH1D1_ENST00000596049.1_Silent_p.L11L	p.L11L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	1	266	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	11					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.31C>T	CCDS12765.1																																																																																				0.612	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		91	404	0	0	0	1	0	91	404				
PRUNE2	158471	broad.mit.edu	37	9	79321848	79321848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79321848G>A	ENST00000376718.3	-	8	5465	c.5342C>T	c.(5341-5343)gCa>gTa	p.A1781V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1422V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1781					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCACTGCTGTAATCTG	0.438																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4264-4266)gCa>gTa		prune homolog 2 (Drosophila)							121.0	94.0	102.0					9																	79321848		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321848G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5342C>T	9.37:g.79321848G>A	ENSP00000365908:p.Ala1781Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1781V	p.A1422V			Q8WUY3	PRUN2_HUMAN			8	5465	-			1781					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4265C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.963	-0.702586	0.03255	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.43688	0.94;0.94	5.36	1.23	0.21249	.	1.275240	0.05360	N	0.533570	T	0.20780	0.0500	N	0.12182	0.205	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.22208	-1.0223	10	0.06757	T	0.87	-2.6408	4.4469	0.11602	0.2117:0.0:0.4988:0.2895	.	1781	Q8WUY3	PRUN2_HUMAN	V	1781;1422;1780	ENSP00000365908:A1781V;ENSP00000397425:A1422V	ENSP00000365908:A1781V	A	-	2	0	PRUNE2	78511668	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.252000	0.08806	0.736000	0.32559	0.655000	0.94253	GCA		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		27	118	0	0	0	1	0	27	118				
PROM2	150696	broad.mit.edu	37	2	95952933	95952933	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95952933C>A	ENST00000317620.9	+	19	2280	c.2147C>A	c.(2146-2148)cCt>cAt	p.P716H	PROM2_ENST00000542147.1_Missense_Mutation_p.P667H|PROM2_ENST00000403131.2_Missense_Mutation_p.P716H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	716					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGCTGCCTGCCTGGGCA	0.597																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(2146-2148)cCt>cAt		prominin 2							57.0	55.0	56.0					2																	95952933		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95952933C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.2147C>A	2.37:g.95952933C>A	ENSP00000318270:p.Pro716His					PROM2_ENST00000403131.2_Missense_Mutation_p.P716H|PROM2_ENST00000542147.1_Missense_Mutation_p.P667H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H	p.P716H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			19	2280	+			716					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.2147C>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449748	0.63290	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.98	4.1	0.47936	.	0.173678	0.40908	D	0.000983	T	0.60196	0.2250	M	0.76574	2.34	0.38292	D	0.942739	D	0.89917	1.0	D	0.87578	0.998	T	0.64002	-0.6509	10	0.45353	T	0.12	-7.114	9.033	0.36271	0.0:0.9003:0.0:0.0997	.	716	Q8N271	PROM2_HUMAN	H	716;716;716;667	ENSP00000385716:P716H;ENSP00000318520:P716H;ENSP00000318270:P716H;ENSP00000442542:P667H	ENSP00000318270:P716H	P	+	2	0	PROM2	95316660	0.756000	0.28383	0.844000	0.33320	0.988000	0.76386	1.608000	0.36847	1.313000	0.45069	0.561000	0.74099	CCT		0.597	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		7	196	1	0	0.00198382	1	0.00200138	7	196				
KLHL30	377007	broad.mit.edu	37	2	239056536	239056536	+	Silent	SNP	C	C	T	rs549619998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239056536C>T	ENST00000409223.1	+	6	1319	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	KLHL30_ENST00000305959.4_Silent_p.P386P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	404										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGACGCCCGTCAGCCCGG	0.687																																						ENST00000409223.1																			0				lung(4)	4						c.(1210-1212)ccC>ccT		kelch-like family member 30							27.0	31.0	30.0					2																	239056536		1888	4091	5979	SO:0001819	synonymous_variant	377007							g.chr2:239056536C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1212C>T	2.37:g.239056536C>T						KLHL30_ENST00000305959.4_Silent_p.P386P	p.P404P			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	6	1319	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	404					Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.1212C>T	CCDS46555.2																																																																																				0.687	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		25	133	0	0	0	1	0	25	133				
FAM86B2	653333	broad.mit.edu	37	8	12287880	12287880	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12287880C>A	ENST00000262365.4	-	4	320	c.321G>T	c.(319-321)caG>caT	p.Q107H	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000309608.5_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	107										endometrium(1)|kidney(2)	3						TCCGGTGGCCCTGGGTGGACT	0.592																																						ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(319-321)caG>caT		family with sequence similarity 86, member B2							27.0	26.0	26.0					8																	12287880		692	1589	2281	SO:0001583	missense	653333							g.chr8:12287880C>A		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.321G>T	8.37:g.12287880C>A	ENSP00000262365:p.Gln107His					FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron	p.Q107H	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			4	320	-			107						Missense_Mutation	SNP	ENST00000262365.4	37	c.321G>T	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	-	0.128	-1.116874	0.01799	.	.	ENSG00000145002	ENST00000262365	T	0.03468	3.92	1.16	-2.32	0.06745	.	.	.	.	.	T	0.01835	0.0058	N	0.14661	0.345	0.43971	D	0.996651	B	0.06786	0.001	B	0.06405	0.002	T	0.56456	-0.7976	9	0.15499	T	0.54	.	4.5254	0.11980	0.208:0.4212:0.3708:0.0	.	107	P0C5J1	F86B2_HUMAN	H	107	ENSP00000262365:Q107H	ENSP00000262365:Q107H	Q	-	3	2	FAM86B2	12332251	0.002000	0.14202	0.127000	0.21898	0.008000	0.06430	-1.516000	0.02250	-2.625000	0.00437	-1.604000	0.00809	CAG		0.592	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		13	197	1	0	3.32936e-07	1	3.45006e-07	13	197				
PJA1	64219	broad.mit.edu	37	X	68382741	68382741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382741G>A	ENST00000361478.1	-	2	718	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Missense_Mutation_p.A114V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	114					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATGTCCATAGGCCATTCCTCT	0.507																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(340-342)gCc>gTc		praja ring finger 1, E3 ubiquitin protein ligase							78.0	72.0	74.0					X																	68382741		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382741G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.341C>T	X.37:g.68382741G>A	ENSP00000355014:p.Ala114Val					PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000374583.1_Missense_Mutation_p.A114V	p.A114V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	718	-			114					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.341C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399000	0.62177	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.13538	2.58;2.58;2.58	3.25	3.25	0.37280	.	0.160475	0.27821	U	0.017709	T	0.15435	0.0372	L	0.42245	1.32	0.29973	N	0.8184	P	0.51057	0.941	P	0.46172	0.506	T	0.03364	-1.1044	10	0.51188	T	0.08	-7.9662	11.8051	0.52150	0.0:0.0:1.0:0.0	.	114	Q8NG27	PJA1_HUMAN	V	59;114;114;59	ENSP00000363711:A114V;ENSP00000355014:A114V;ENSP00000363699:A59V	ENSP00000355014:A114V	A	-	2	0	PJA1	68299466	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	5.735000	0.68587	1.925000	0.55765	0.534000	0.68092	GCC		0.507	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		47	322	0	0	0	1	0	47	322				
ARHGEF37	389337	broad.mit.edu	37	5	148998539	148998539	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148998539C>T	ENST00000333677.6	+	7	991	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	276	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAGAGAGGTTCCAGTGGGTGT	0.493											OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(826-828)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 37							273.0	281.0	278.0					5																	148998539		2016	4186	6202	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148998539C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.828C>T	5.37:g.148998539C>T			OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1721		p.F276F	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			7	991	+			276			BAR.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.828C>T	CCDS43385.1																																																																																				0.493	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		316	1245	0	0	0	1	0	316	1245				
OLIG3	167826	broad.mit.edu	37	6	137815078	137815078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815078G>A	ENST00000367734.2	-	1	453	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	77					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCCTGCTCCGACAGCTGCTT	0.602																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(229-231)tCg>tTg		oligodendrocyte transcription factor 3							131.0	109.0	117.0					6																	137815078		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815078G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.230C>T	6.37:g.137815078G>A	ENSP00000356708:p.Ser77Leu						p.S77L	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	453	-	Breast(32;0.165)|Colorectal(23;0.24)		77					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.230C>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565225	0.65651	.	.	ENSG00000177468	ENST00000367734	T	0.72725	-0.68	5.44	5.44	0.79542	.	0.084158	0.49916	D	0.000135	T	0.45357	0.1338	N	0.19112	0.55	0.58432	D	0.999999	B	0.34329	0.449	B	0.24701	0.055	T	0.56727	-0.7931	10	0.66056	D	0.02	-3.4036	19.2352	0.93856	0.0:0.0:1.0:0.0	.	77	Q7RTU3	OLIG3_HUMAN	L	77	ENSP00000356708:S77L	ENSP00000356708:S77L	S	-	2	0	OLIG3	137856771	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.877000	0.87225	2.534000	0.85438	0.591000	0.81541	TCG		0.602	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		125	586	0	0	0	1	0	125	586				
SLC34A2	10568	broad.mit.edu	37	4	25674748	25674748	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25674748C>A	ENST00000382051.3	+	10	1138	c.1088C>A	c.(1087-1089)gCt>gAt	p.A363D	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	363					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGATCTTGCTGTGGGCACC	0.532			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1087-1089)gCt>gAt		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							214.0	188.0	197.0					4																	25674748		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25674748C>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1088C>A	4.37:g.25674748C>A	ENSP00000371483:p.Ala363Asp					SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D	p.A363D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			10	1138	+		Breast(46;0.0503)	363					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1088C>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168115	0.38315	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.25912	1.77;1.77;1.77	5.28	0.993	0.19825	.	0.197636	0.53938	D	0.000059	T	0.45935	0.1367	M	0.89214	3.015	0.53688	D	0.999974	D;P	0.60160	0.987;0.955	P;P	0.58928	0.848;0.71	T	0.43988	-0.9357	10	0.62326	D	0.03	-4.0036	7.2379	0.26079	0.0:0.6647:0.1176:0.2177	.	362;363	O95436-2;O95436	.;NPT2B_HUMAN	D	362;363;362	ENSP00000425501:A362D;ENSP00000371483:A363D;ENSP00000423021:A362D	ENSP00000371483:A363D	A	+	2	0	SLC34A2	25283846	0.032000	0.19561	0.001000	0.08648	0.024000	0.10985	0.470000	0.22084	0.223000	0.20920	0.561000	0.74099	GCT		0.532	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		14	506	1	0	2.31682e-05	1	2.36778e-05	14	506				
CCL16	6360	broad.mit.edu	37	17	34308401	34308401	+	Missense_Mutation	SNP	G	G	A	rs199602184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34308401G>A	ENST00000293275.3	-	1	131	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	19					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGAGAAGCCGAAGTAATGAT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20789	0.0		0.0	False		,,,				2504	0.0					ENST00000293275.3																			0				endometrium(1)|lung(2)	3						c.(55-57)tCg>tTg		chemokine (C-C motif) ligand 16							66.0	51.0	56.0					17																	34308401		2203	4300	6503	SO:0001583	missense	6360				cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity	g.chr17:34308401G>A	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"""Chemokine ligands"", ""Endogenous ligands"""	10614	protein-coding gene	gene with protein product		601394	"""small inducible cytokine subfamily A (Cys-Cys), member 16"""	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.56C>T	17.37:g.34308401G>A	ENSP00000293275:p.Ser19Leu						p.S19L	NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	131	-		Ovarian(249;0.17)	19					Q4KKU0	Missense_Mutation	SNP	ENST00000293275.3	37	c.56C>T	CCDS11303.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.41	2.527350	0.44969	.	.	ENSG00000161573	ENST00000293275	T	0.02837	4.14	3.76	1.64	0.23874	.	.	.	.	.	T	0.02267	0.0070	L	0.38692	1.165	0.09310	N	1	B	0.30146	0.27	B	0.14023	0.01	T	0.44892	-0.9298	9	0.37606	T	0.19	.	4.3932	0.11350	0.13:0.238:0.6319:0.0	.	19	O15467	CCL16_HUMAN	L	19	ENSP00000293275:S19L	ENSP00000293275:S19L	S	-	2	0	CCL16	31332514	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.391000	0.20784	0.864000	0.35578	0.462000	0.41574	TCG		0.572	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	NM_004590		4	68	0	0	0	1	0	4	68				
AARSD1	80755	broad.mit.edu	37	17	41116151	41116151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41116151G>A	ENST00000427569.2	-	2	178	c.143C>T	c.(142-144)aCa>aTa	p.T48I	AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T161I|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T222I|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.T222I|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T131I	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	48					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAAAGCACTGTGTCTTCCAG	0.582																																						ENST00000421990.2																			0											c.(664-666)aCa>aTa									124.0	107.0	113.0					17																	41116151		2203	4300	6503	SO:0001583	missense	0							g.chr17:41116151G>A	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.143C>T	17.37:g.41116151G>A	ENSP00000400870:p.Thr48Ile					AARSD1_ENST00000416949.1_5'UTR|AARSD1_ENST00000427569.2_Missense_Mutation_p.T48I|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T131I|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T161I|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T222I	p.T222I	NM_001136042.2	NP_001129514.2					7	1010	-								B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.665C>T	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.126002|5.126002	0.94429|0.94429	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|D;D;D;D;D	.|0.88586	.|-2.4;-2.4;-2.4;-2.4;-2.4	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	.|0.064498	.|0.64402	.|D	.|0.000008	.|D	.|0.96895	.|0.8986	H|H	0.98682|0.98682	4.3|4.3	.|.	.|.	.|.	.|D;D;D;D;D	.|0.89917	.|0.996;0.998;0.998;0.998;1.0	.|D;D;D;D;D	.|0.81914	.|0.943;0.984;0.984;0.979;0.995	.|D	.|0.98556	.|1.0639	.|9	.|0.87932	.|D	.|0	-15.2197|-15.2197	17.5942|17.5942	0.88006|0.88006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|161;222;131;179;48	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	X|I	54|161;222;222;48;131	.|ENSP00000353355:T161I;ENSP00000386621:T222I;ENSP00000409924:T222I;ENSP00000400870:T48I;ENSP00000386254:T131I	.|ENSP00000353355:T161I	Q|T	-|-	1|2	0|0	AARSD1|AARSD1	38369677|38369677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	8.878000|8.878000	0.92393|0.92393	2.497000|2.497000	0.84241|0.84241	0.442000|0.442000	0.29010|0.29010	CAG|ACA		0.582	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		87	369	0	0	0	1	0	87	369				
GPN1	11321	broad.mit.edu	37	2	27858050	27858050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27858050C>T	ENST00000610189.1	+	7	480	c.473C>T	c.(472-474)tCg>tTg	p.S158L	GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000264718.3_Missense_Mutation_p.S172L|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000424214.1_Missense_Mutation_p.S79L	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						ATGGACACATCGAGAAGTACC	0.448																																						ENST00000264718.3																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.(514-516)tCg>tTg		GPN-loop GTPase 1							233.0	209.0	217.0					2																	27858050		2203	4300	6503	SO:0001583	missense	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27858050C>T	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.473C>T	2.37:g.27858050C>T	ENSP00000476446:p.Ser158Leu					GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000461249.1_3'UTR	p.S172L	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN			7	536	+			158						Missense_Mutation	SNP	ENST00000610189.1	37	c.515C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173807	0.78452	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.96	5.96	0.96718	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.46885	1.475	0.58432	D	0.999999	B;P;B;P	0.48503	0.163;0.911;0.386;0.64	B;P;B;B	0.47206	0.046;0.541;0.108;0.265	T	0.00271	-1.1859	9	.	.	.	-16.5273	17.1122	0.86679	0.0:1.0:0.0:0.0	.	158;172;63;146	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	L	79;63;63;79;146;172	ENSP00000424678:S79L;ENSP00000427269:S63L;ENSP00000412170:S63L;ENSP00000398115:S79L;ENSP00000384255:S146L;ENSP00000264718:S172L	.	S	+	2	0	GPN1	27711554	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	7.061000	0.76699	2.820000	0.97059	0.655000	0.94253	TCG		0.448	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		87	446	0	0	0	1	0	87	446				
LGSN	51557	broad.mit.edu	37	6	63990442	63990442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990442C>T	ENST00000370657.4	-	4	1047	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	LGSN_ENST00000370658.5_Missense_Mutation_p.R198Q			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	338					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCCAGTGATCGTGAGCTGCT	0.488																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(592-594)cGa>cAa		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						92.0	94.0	93.0					6																	63990442		2202	4300	6502	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990442C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1014G>A	6.37:g.63990442C>T						LGSN_ENST00000370657.4_Silent_p.T338T	p.R198Q	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			5	626	-			0					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.593G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755162	0.31046	.	.	ENSG00000146166	ENST00000370658	T	0.29655	1.56	5.55	-4.6	0.03390	.	.	.	.	.	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.40365	-0.9567	8	0.29301	T	0.29	-8.7929	7.2324	0.26051	0.0:0.1424:0.351:0.5066	.	198	Q5TDP6-2	.	Q	198	ENSP00000359692:R198Q	ENSP00000359692:R198Q	R	-	2	0	LGSN	64048401	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-2.323000	0.01117	-0.523000	0.06409	0.655000	0.94253	CGA		0.488	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		104	419	0	0	0	1	0	104	419				
CACNA1S	779	broad.mit.edu	37	1	201031168	201031168	+	Missense_Mutation	SNP	C	C	T	rs140453525	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201031168C>T	ENST00000362061.3	-	24	3183	c.2957G>A	c.(2956-2958)cGt>cAt	p.R986H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	986					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCGCGGTGACGCAGCTCTAT	0.602													c|||	3	0.000599042	0.0023	0.0	5008	,	,		21263	0.0		0.0	False		,,,				2504	0.0					ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(2956-2958)cGt>cAt		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	149.0	100.0	117.0		2957	0.6	0.3	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA1S	NM_000069.2	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign	986/1874	201031168	4,13002	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201031168C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2957G>A	1.37:g.201031168C>T	ENSP00000355192:p.Arg986His					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	p.R986H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			24	3183	-			986					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2957G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	5.823	0.336023	0.11013	6.81E-4	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98474	-4.95;-4.95	5.17	0.617	0.17619	Ion transport (1);	0.602245	0.18535	N	0.138397	D	0.94624	0.8267	L	0.37897	1.145	0.09310	N	0.999996	B	0.06786	0.001	B	0.10450	0.005	D	0.89262	0.3598	10	0.49607	T	0.09	.	6.3595	0.21420	0.0:0.4259:0.0:0.5741	.	986	Q13698	CAC1S_HUMAN	H	986	ENSP00000355192:R986H;ENSP00000356307:R986H	ENSP00000355192:R986H	R	-	2	0	CACNA1S	199297791	0.004000	0.15560	0.349000	0.25694	0.003000	0.03518	0.206000	0.17375	0.288000	0.22398	-0.736000	0.03550	CGT		0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		43	129	0	0	0	1	0	43	129				
DST	667	broad.mit.edu	37	6	56504351	56504351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56504351G>A	ENST00000361203.3	-	17	2130	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000312431.6_Missense_Mutation_p.A708V|DST_ENST00000370769.4_Missense_Mutation_p.A708V|DST_ENST00000370754.5_Missense_Mutation_p.A886V|DST_ENST00000518935.1_Missense_Mutation_p.A382V			Q03001	DYST_HUMAN	dystonin	708					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATTAGTCGCACGACTTAC	0.353																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2656-2658)gCg>gTg		dystonin							100.0	103.0	102.0					6																	56504351		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504351G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2123C>T	6.37:g.56504351G>A	ENSP00000354508:p.Ala708Val					DST_ENST00000370769.4_Missense_Mutation_p.A708V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000312431.6_Missense_Mutation_p.A708V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000361203.3_Missense_Mutation_p.A708V|DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000518935.1_Missense_Mutation_p.A382V	p.A886V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		20	2656	-	Lung NSC(77;0.103)		708					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2657C>T		.	.	.	.	.	.	.	.	.	.	G	25.9	4.681009	0.88542	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;D;D;T;D;T;T;D;T;T;T;T	0.94650	0.35;-3.48;-3.48;0.35;-3.48;0.35;0.35;-3.48;0.35;0.35;0.35;0.35	5.34	5.34	0.76211	.	0.000000	0.51477	D	0.000081	D	0.96676	0.8915	M	0.76433	2.335	0.33387	D	0.575589	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;P;D;D;D;D;D;P;D	0.83275	0.979;0.933;0.826;0.933;0.991;0.975;0.986;0.996;0.779;0.986	D	0.94922	0.8074	9	0.33141	T	0.24	.	19.2334	0.93849	0.0:0.0:1.0:0.0	.	737;708;708;886;824;382;382;382;708;382	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	382;886;708;708;382;708;708;708;382;748;382;382	ENSP00000244364:A382V;ENSP00000359790:A886V;ENSP00000359805:A708V;ENSP00000400883:A708V;ENSP00000393645:A382V;ENSP00000307959:A708V;ENSP00000359824:A708V;ENSP00000354508:A708V;ENSP00000404924:A382V;ENSP00000431030:A748V;ENSP00000359801:A382V;ENSP00000431003:A382V	ENSP00000244364:A382V	A	-	2	0	DST	56612310	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.657000	0.98554	2.781000	0.95711	0.650000	0.86243	GCG		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		97	424	0	0	0	1	0	97	424				
HTR3B	9177	broad.mit.edu	37	11	113780108	113780108	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113780108A>G	ENST00000260191.2	+	2	401	c.144A>G	c.(142-144)agA>agG	p.R48R	HTR3B_ENST00000537778.1_Silent_p.R37R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	48					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	AAGAAGTGAGACCTGTTTACA	0.448																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(142-144)agA>agG		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							131.0	108.0	116.0					11																	113780108		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113780108A>G	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.144A>G	11.37:g.113780108A>G						HTR3B_ENST00000537778.1_Silent_p.R37R	p.R48R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	2	401	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	48					B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.144A>G	CCDS8364.1																																																																																				0.448	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		56	267	0	0	0	1	0	56	267				
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	rs146112511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103342623C>T	ENST00000370162.3	-	7	1585	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000463515.1_5'Flank|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.R276H	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(1090-1092)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		1091,815,1091	1.1	0.7	10	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	364/576,272/484,364/576	103342623	1,13005	2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103342623C>T	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1091G>A	10.37:g.103342623C>T	ENSP00000359181:p.Arg364His					POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000370172.1_Missense_Mutation_p.R276H|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron	p.R364H	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	7	1585	-		Colorectal(252;0.234)	364					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.1091G>A	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259113	0.59321	2.27E-4	0.0	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	1.09	0.20402	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.162814	0.56097	N	0.000024	T	0.67683	0.2919	M	0.89840	3.065	0.80722	D	1	P;D;D;D;D;D	0.76494	0.929;0.981;0.996;0.998;0.999;0.959	B;B;P;P;P;B	0.60949	0.388;0.42;0.727;0.605;0.881;0.42	T	0.73726	-0.3892	10	0.72032	D	0.01	-29.7121	11.8579	0.52449	0.0:0.7193:0.0:0.2807	.	87;101;89;364;272;37	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	H	364;364;364;87;276;37;364;89;364;101;272;87	ENSP00000299206:R364H;ENSP00000359188:R364H;ENSP00000343102:R87H;ENSP00000359191:R276H;ENSP00000359187:R37H;ENSP00000359181:R364H;ENSP00000359177:R89H;ENSP00000390810:R101H;ENSP00000400676:R272H;ENSP00000406791:R87H	ENSP00000299206:R364H	R	-	2	0	POLL	103332613	1.000000	0.71417	0.691000	0.30163	0.953000	0.61014	1.076000	0.30729	0.307000	0.22880	0.555000	0.69702	CGC		0.552	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		97	336	0	0	0	1	0	97	336				
MEGF6	1953	broad.mit.edu	37	1	3413807	3413807	+	Silent	SNP	G	G	T	rs577073182		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3413807G>T	ENST00000356575.4	-	27	3697	c.3471C>A	c.(3469-3471)ggC>ggA	p.G1157G	MEGF6_ENST00000294599.4_Silent_p.G966G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1157	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCTGCTCGCAGCCGGAGCCAG	0.721																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3469-3471)ggC>ggA		multiple EGF-like-domains 6							12.0	18.0	16.0					1																	3413807		2086	4211	6297	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3413807G>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3471C>A	1.37:g.3413807G>T						MEGF6_ENST00000294599.4_Silent_p.G966G	p.G1157G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	27	3697	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1157			EGF-like 21.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.3471C>A	CCDS41237.1																																																																																				0.721	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		44	169	1	0	6.31075e-24	1	7.19376e-24	44	169				
THBD	7056	broad.mit.edu	37	20	23029298	23029298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23029298C>T	ENST00000377103.2	-	1	1080	c.844G>A	c.(844-846)Gca>Aca	p.A282T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	282					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GTCGCGGATGCGGTGCAGGAG	0.711																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(844-846)Gca>Aca		thrombomodulin	Drotrecogin alfa(DB00055)						14.0	14.0	14.0					20																	23029298		2177	4274	6451	SO:0001583	missense	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029298C>T		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.844G>A	20.37:g.23029298C>T	ENSP00000366307:p.Ala282Thr						p.A282T	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1080	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		282					Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	c.844G>A	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	C	3.938	-0.014850	0.07681	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	D	0.87412	-2.25	4.97	-6.89	0.01660	.	20.087100	0.00951	N	0.002973	T	0.71434	0.3339	N	0.17248	0.465	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.58618	-0.7605	10	0.25751	T	0.34	0.825	2.2655	0.04077	0.1731:0.1485:0.3999:0.2785	.	282	P07204	TRBM_HUMAN	T	282;264	ENSP00000366307:A282T	ENSP00000366307:A282T	A	-	1	0	THBD	22977298	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.243000	0.02905	-0.791000	0.04486	0.449000	0.29647	GCA		0.711	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			5	88	0	0	0	1	0	5	88				
NTRK2	4915	broad.mit.edu	37	9	87339252	87339252	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87339252T>G	ENST00000323115.4	+	7	1187	c.834T>G	c.(832-834)tcT>tcG	p.S278S	NTRK2_ENST00000304053.6_Silent_p.S278S|NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000395882.1_Silent_p.S278S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000376213.1_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	278	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ATCAAGATTCTGTCAACCTCA	0.448										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(832-834)tcT>tcG		neurotrophic tyrosine kinase, receptor, type 2							233.0	221.0	225.0					9																	87339252		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87339252T>G	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.834T>G	9.37:g.87339252T>G		TSP Lung(25;0.17)				NTRK2_ENST00000395882.1_Silent_p.S278S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000323115.4_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S|NTRK2_ENST00000376213.1_Silent_p.S278S	p.S278S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			8	1317	+			278			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.834T>G	CCDS35050.1																																																																																				0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			159	785	0	0	0	1	0	159	785				
TACC1	6867	broad.mit.edu	37	8	38677288	38677288	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677288A>G	ENST00000317827.4	+	3	905	c.526A>G	c.(526-528)Act>Gct	p.T176A	TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.T176A|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	176	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGGCTGTGTAACTGCAGTCTC	0.557																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(526-528)Act>Gct		transforming, acidic coiled-coil containing protein 1							76.0	79.0	78.0					8																	38677288		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677288A>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.526A>G	8.37:g.38677288A>G	ENSP00000321703:p.Thr176Ala					TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000317827.4_Missense_Mutation_p.T176A|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron	p.T176A			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	905	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	176			Interaction with TDRD7.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.526A>G	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	4.909	0.168925	0.09339	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.09723	3.14;3.13;2.95;3.15;3.15	4.65	-1.92	0.07618	.	0.905143	0.09444	N	0.801377	T	0.07413	0.0187	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28933	0.0;0.085;0.228	B;B;B	0.27796	0.001;0.039;0.083	T	0.44236	-0.9341	10	0.11182	T	0.66	0.1713	5.7161	0.17960	0.2284:0.3746:0.397:0.0	.	192;176;131	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	A	192;131;148;176;176	ENSP00000393647:T192A;ENSP00000428706:T131A;ENSP00000430355:T148A;ENSP00000321703:T176A;ENSP00000369263:T176A	ENSP00000321703:T176A	T	+	1	0	TACC1	38796445	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-0.796000	0.04575	-0.203000	0.10251	0.460000	0.39030	ACT		0.557	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		17	553	0	0	0	1	0	17	553				
KAT2B	8850	broad.mit.edu	37	3	20169002	20169002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20169002G>A	ENST00000263754.4	+	11	2165	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	570	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GATTCACAGAGATTGTCTTCT	0.428																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(1708-1710)gaG>gaA		K(lysine) acetyltransferase 2B							200.0	179.0	186.0					3																	20169002		2203	4300	6503	SO:0001819	synonymous_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20169002G>A	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1710G>A	3.37:g.20169002G>A							p.E570E	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			11	2165	+			570			N-acetyltransferase.		Q6NSK1	Silent	SNP	ENST00000263754.4	37	c.1710G>A	CCDS2634.1																																																																																				0.428	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		78	297	0	0	0	1	0	78	297				
FLT3	2322	broad.mit.edu	37	13	28609635	28609635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28609635G>A	ENST00000241453.7	-	12	1675	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	FLT3_ENST00000380982.4_Missense_Mutation_p.P532S|FLT3_ENST00000537084.1_Missense_Mutation_p.P532S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	532					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTACCTGGAGAGTTTAAA	0.438			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1594-1596)Cca>Tca		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						147.0	135.0	139.0					13																	28609635		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28609635G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1594C>T	13.37:g.28609635G>A	ENSP00000241453:p.Pro532Ser					FLT3_ENST00000537084.1_Missense_Mutation_p.P532S|FLT3_ENST00000241453.7_Missense_Mutation_p.P532S	p.P532S			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	12	1675	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	532					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1594C>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	6.860	0.528006	0.13127	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77877	-1.06;-1.13;-0.83	5.18	0.272	0.15645	.	0.509728	0.19645	N	0.109344	T	0.50650	0.1628	N	0.24115	0.695	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.30851	-0.9964	10	0.05620	T	0.96	.	0.5181	0.00607	0.3086:0.1247:0.3114:0.2554	.	532;532	P36888-2;P36888	.;FLT3_HUMAN	S	532	ENSP00000241453:P532S;ENSP00000370369:P532S;ENSP00000438139:P532S	ENSP00000241453:P532S	P	-	1	0	FLT3	27507635	0.000000	0.05858	0.041000	0.18516	0.370000	0.29829	-0.630000	0.05502	-0.207000	0.10187	0.650000	0.86243	CCA		0.438	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			75	295	0	0	0	1	0	75	295				
ALPPL2	251	broad.mit.edu	37	2	233273059	233273059	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233273059G>A	ENST00000295453.3	+	6	783	c.731G>A	c.(730-732)gGg>gAg	p.G244E		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	244					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	AGCCAAGGTGGGACCAGGCTG	0.617																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(730-732)gGg>gAg		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						84.0	89.0	87.0					2																	233273059		2203	4299	6502	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273059G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.731G>A	2.37:g.233273059G>A	ENSP00000295453:p.Gly244Glu						p.G244E	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	783	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	244					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.731G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	18.11	3.550576	0.65311	.	.	ENSG00000163286	ENST00000295453	D	0.98926	-5.24	2.85	2.85	0.33270	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.116221	0.64402	D	0.000010	D	0.99158	0.9709	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	.	14.1121	0.65129	0.0:0.0:1.0:0.0	.	244	P10696	PPBN_HUMAN	E	244	ENSP00000295453:G244E	ENSP00000295453:G244E	G	+	2	0	ALPPL2	232981303	1.000000	0.71417	0.011000	0.14972	0.004000	0.04260	8.984000	0.93482	1.572000	0.49736	0.411000	0.27672	GGG		0.617	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		14	653	0	0	0	1	0	14	653				
PARP1	142	broad.mit.edu	37	1	226573298	226573298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226573298G>A	ENST00000366794.5	-	7	1061	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	306					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S306S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AATAGGCATCGCTCTTGAAGA	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			1	Substitution - coding silent(1)	p.S306S(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(916-918)agC>agT	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							122.0	102.0	109.0					1																	226573298		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226573298G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.918C>T	1.37:g.226573298G>A							p.S306S	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	7	1061	-	Breast(184;0.133)		306					B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.918C>T	CCDS1554.1																																																																																				0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		104	350	0	0	0	1	0	104	350				
EIF3C	8663	broad.mit.edu	37	16	28734551	28734551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734551G>A	ENST00000331666.6	+	9	1029	c.843G>A	c.(841-843)aaG>aaA	p.K281K	EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000564243.1_Silent_p.K271K|EIF3C_ENST00000566866.1_Silent_p.K281K|EIF3C_ENST00000566501.1_Silent_p.K281K					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						CTAAGAAGAAGCACGACAGGA	0.577																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(841-843)aaG>aaA		eukaryotic translation initiation factor 3, subunit C							255.0	291.0	278.0					16																	28734551		2197	4298	6495	SO:0001819	synonymous_variant	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734551G>A	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.843G>A	16.37:g.28734551G>A						EIF3C_ENST00000566501.1_Silent_p.K281K|EIF3C_ENST00000566866.1_Silent_p.K281K|EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000564243.1_Silent_p.K271K	p.K281K			Q99613	EIF3C_HUMAN			9	1029	+			281						Silent	SNP	ENST00000331666.6	37	c.843G>A	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	g	1.696	-0.502756	0.04261	.	.	ENSG00000184110	ENST00000395583	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0464	0.64708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3C	28642052	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	3.167000	0.50793	2.356000	0.79943	0.545000	0.68477	.		0.577	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		187	1982	0	0	0	1	0	187	1982				
ROBO4	54538	broad.mit.edu	37	11	124765426	124765426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765426G>A	ENST00000306534.3	-	6	1448	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ROBO4_ENST00000533054.1_Silent_p.F176F|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	321	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCTCACTTTGAACTCGTAGT	0.657																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(961-963)ttC>ttT		roundabout, axon guidance receptor, homolog 4 (Drosophila)							47.0	54.0	52.0					11																	124765426		2200	4298	6498	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765426G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.963C>T	11.37:g.124765426G>A						ROBO4_ENST00000533054.1_Silent_p.F176F	p.F321F	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1448	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	321			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.963C>T	CCDS8455.1																																																																																				0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		109	474	0	0	0	1	0	109	474				
DDX25	29118	broad.mit.edu	37	11	125788671	125788671	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125788671A>C	ENST00000263576.6	+	10	1342	c.1187A>C	c.(1186-1188)aAt>aCt	p.N396T	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	396	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATAACAACTAATGTTTGTGCC	0.448																																						ENST00000263576.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1186-1188)aAt>aCt		DEAD (Asp-Glu-Ala-Asp) box helicase 25							108.0	104.0	105.0					11																	125788671		1919	4137	6056	SO:0001583	missense	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125788671A>C	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1187A>C	11.37:g.125788671A>C	ENSP00000263576:p.Asn396Thr					DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	p.N396T	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	10	1342	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	396			Helicase C-terminal.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	c.1187A>C	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	A	8.770	0.925599	0.18056	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.04758	3.56	5.36	5.36	0.76844	Helicase, C-terminal (3);	0.144864	0.48767	D	0.000163	T	0.21022	0.0506	M	0.76727	2.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.00293	-1.1841	10	0.87932	D	0	-12.2522	14.344	0.66646	1.0:0.0:0.0:0.0	.	396;396	B4DHI6;Q9UHL0	.;DDX25_HUMAN	T	282;396;262	ENSP00000263576:N396T	ENSP00000263576:N396T	N	+	2	0	DDX25	125293881	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	8.870000	0.92336	2.047000	0.60756	0.459000	0.35465	AAT		0.448	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		16	52	0	0	0	1	0	16	52				
DTX2	113878	broad.mit.edu	37	7	76131750	76131750	+	Missense_Mutation	SNP	G	G	A	rs532326466	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131750G>A	ENST00000324432.5	+	9	1876	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	DTX2_ENST00000446820.2_Missense_Mutation_p.A409T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000446600.1_Missense_Mutation_p.A365T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	456					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						GTGCCTCCTGGCCATGTACTG	0.662													.|||	6	0.00119808	0.0	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0061					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.(1366-1368)Gcc>Acc		deltex homolog 2 (Drosophila)							62.0	44.0	50.0					7																	76131750		2200	4297	6497	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76131750G>A		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.1366G>A	7.37:g.76131750G>A	ENSP00000322885:p.Ala456Thr					DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000446820.2_Missense_Mutation_p.A409T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T|DTX2_ENST00000446600.1_Missense_Mutation_p.A365T	p.A456T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			9	1876	+			456					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.1366G>A	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	33	5.238086	0.95240	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85955	1.9;-2.05;1.9;1.9;1.9;-2.05	5.48	4.57	0.56435	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.105806	0.64402	D	0.000005	D	0.92286	0.7553	M	0.84326	2.69	0.80722	D	1	D;P;D;P;B	0.89917	0.976;0.954;1.0;0.944;0.278	D;D;D;D;P	0.97110	0.948;0.927;1.0;0.948;0.668	D	0.92566	0.6062	10	0.51188	T	0.08	-25.3383	14.377	0.66884	0.0:0.0:0.8509:0.1491	.	365;87;365;409;456	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	T	456;409;365;365;456;456;409	ENSP00000322885:A456T;ENSP00000305242:A409T;ENSP00000397648:A365T;ENSP00000390218:A456T;ENSP00000411986:A456T;ENSP00000392545:A409T	ENSP00000305242:A409T	A	+	1	0	AC005522.1	75969686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.765000	0.98953	1.258000	0.44101	0.655000	0.94253	GCC		0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			47	140	0	0	0	1	0	47	140				
FGB	2244	broad.mit.edu	37	4	155490772	155490772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490772C>A	ENST00000302068.4	+	7	1128	c.1065C>A	c.(1063-1065)caC>caA	p.H355Q	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.H136Q	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	355	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAAAGGCTCACTATGGAGGAT	0.438																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1063-1065)caC>caA		fibrinogen beta chain	Sucralfate(DB00364)						111.0	102.0	105.0					4																	155490772		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490772C>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1065C>A	4.37:g.155490772C>A	ENSP00000306099:p.His355Gln					FGB_ENST00000509493.1_Missense_Mutation_p.H136Q|FGB_ENST00000502545.1_Intron	p.H355Q	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1128	+	all_hematologic(180;0.215)	Renal(120;0.0458)	355			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1065C>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.347836	0.00219	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.75821	-0.97;-0.97	5.53	-0.582	0.11709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.679797	0.15903	N	0.239000	T	0.31071	0.0785	N	0.00750	-1.22	0.21220	N	0.999751	B;B	0.17038	0.02;0.003	B;B	0.12837	0.008;0.005	T	0.31530	-0.9940	10	0.07990	T	0.79	.	0.5293	0.00626	0.3762:0.1746:0.1239:0.3253	.	338;355	B4E1D3;P02675	.;FIBB_HUMAN	Q	355;338;136	ENSP00000306099:H355Q;ENSP00000426757:H136Q	ENSP00000306099:H355Q	H	+	3	2	FGB	155710222	0.000000	0.05858	0.140000	0.22221	0.075000	0.17131	-1.869000	0.01643	-0.011000	0.14247	-0.961000	0.02630	CAC		0.438	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		79	342	1	0	7.62596e-35	1	9.08233e-35	79	342				
FAM131A	131408	broad.mit.edu	37	3	184062357	184062357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184062357C>T	ENST00000310585.4	+	3	1971	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	203						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGCCTGTGCGCCAGGGCTC	0.642																																						ENST00000310585.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14						c.(607-609)Cgc>Tgc		family with sequence similarity 131, member A							49.0	57.0	54.0					3																	184062357		2203	4300	6503	SO:0001583	missense	131408					extracellular region		g.chr3:184062357C>T	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.607C>T	3.37:g.184062357C>T	ENSP00000310135:p.Arg203Cys					FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C|FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C	p.R203C			Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	1971	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		203					D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	37	c.607C>T		.	.	.	.	.	.	.	.	.	.	c	18.84	3.709851	0.68730	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.4	5.4	0.78164	.	0.424092	0.24962	N	0.034217	T	0.45438	0.1342	L	0.47716	1.5	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.911;0.995	T	0.18398	-1.0338	10	0.44086	T	0.13	-16.6087	17.3588	0.87344	0.0:1.0:0.0:0.0	.	203;234;111	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	C	149;111;149;149;234;149;203	ENSP00000388551:R149C;ENSP00000414050:R111C;ENSP00000340974:R149C;ENSP00000414913:R149C;ENSP00000373360:R234C;ENSP00000390588:R149C;ENSP00000310135:R203C	ENSP00000310135:R203C	R	+	1	0	FAM131A	185545051	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.204000	0.51082	2.539000	0.85634	0.655000	0.94253	CGC		0.642	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		142	506	0	0	0	1	0	142	506				
ACOXL	55289	broad.mit.edu	37	2	111551244	111551244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111551244G>A	ENST00000389811.4	+	4	401	c.177G>A	c.(175-177)tgG>tgA	p.W59*	ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*|ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	59					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAATTTATTGGCTATTTGGTG	0.413																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(175-177)tgG>tgA		acyl-CoA oxidase-like							190.0	178.0	182.0					2																	111551244		1897	4120	6017	SO:0001587	stop_gained	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111551244G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.177G>A	2.37:g.111551244G>A	ENSP00000374461:p.Trp59*					ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*|ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*	p.W59*			Q9NUZ1	ACOXL_HUMAN			4	401	+			59					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Nonsense_Mutation	SNP	ENST00000389811.4	37	c.177G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.708355	0.96821	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561;ENST00000448863	.	.	.	5.24	5.24	0.73138	.	0.417998	0.22554	N	0.058543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-21.1242	16.3486	0.83191	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000343717:W59X	W	+	3	0	ACOXL	111267715	1.000000	0.71417	0.984000	0.44739	0.766000	0.43426	2.240000	0.43088	2.459000	0.83118	0.561000	0.74099	TGG		0.413	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		106	637	0	0	0	1	0	106	637				
TSC2	7249	broad.mit.edu	37	16	2124212	2124212	+	Silent	SNP	C	C	A	rs137854061|rs397515224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2124212C>A	ENST00000219476.3	+	22	2997	c.2367C>A	c.(2365-2367)gtC>gtA	p.V789V	TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000568454.1_Silent_p.V800V|TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000353929.4_Silent_p.V789V|TSC2_ENST00000439673.2_Silent_p.V752V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	789					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCGAGATGGTCTACTGCCTGG	0.652			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2365-2367)gtC>gtA		tuberous sclerosis 2							71.0	57.0	62.0					16																	2124212		2198	4300	6498	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2124212C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2367C>A	16.37:g.2124212C>A						TSC2_ENST00000439673.2_Silent_p.V752V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000353929.4_Silent_p.V789V|TSC2_ENST00000568454.1_Silent_p.V800V	p.V789V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			22	2997	+		Hepatocellular(780;0.0202)	789					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.2367C>A	CCDS10458.1																																																																																				0.652	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		41	197	1	0	1.02687e-29	1	1.20094e-29	41	197				
FAT4	79633	broad.mit.edu	37	4	126238257	126238257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126238257C>T	ENST00000394329.3	+	1	704	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	231	Cadherin 2. {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						GCCTAAGCGGCGGGGCTACCT	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(691-693)Cgg>Tgg		FAT atypical cadherin 4							34.0	39.0	37.0					4																	126238257		2069	4201	6270	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238257C>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.691C>T	4.37:g.126238257C>T	ENSP00000377862:p.Arg231Trp		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.R231W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	704	+			231			Cadherin 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.691C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019790	0.35606	.	.	ENSG00000196159	ENST00000394329	T	0.53206	0.63	5.13	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.32430	U	0.006116	T	0.54743	0.1877	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.51325	-0.8720	10	0.37606	T	0.19	.	9.1011	0.36669	0.0:0.7744:0.1487:0.0769	.	231	Q6V0I7	FAT4_HUMAN	W	231	ENSP00000377862:R231W	ENSP00000377862:R231W	R	+	1	2	FAT4	126457707	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.299000	0.43611	1.102000	0.41551	0.655000	0.94253	CGG		0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	163	0	0	0	1	0	45	163				
MS4A1	931	broad.mit.edu	37	11	60229917	60229917	+	Nonsense_Mutation	SNP	C	C	T	rs201354938	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60229917C>T	ENST00000534668.1	+	2	359	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	24					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTGCTATGCAATCTGGTCC	0.448													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21564	0.0		0.0	False		,,,				2504	0.0					ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(70-72)Caa>Taa		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						72.0	74.0	73.0					11																	60229917		2203	4300	6503	SO:0001587	stop_gained	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60229917C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.70C>T	11.37:g.60229917C>T	ENSP00000433277:p.Gln24*					MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR	p.Q24*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			2	359	+			24					A6NMS4|B4DT24|P08984|Q13963	Nonsense_Mutation	SNP	ENST00000534668.1	37	c.70C>T	CCDS31570.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.07	3.541864	0.65198	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000533306;ENST00000389939	.	.	.	5.21	1.14	0.20703	.	0.693696	0.12943	N	0.426474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.1374	3.7868	0.08703	0.1675:0.5457:0.0:0.2868	.	.	.	.	X	24;24;24;24;27;24	.	ENSP00000314620:Q24X	Q	+	1	0	MS4A1	59986493	0.054000	0.20591	0.000000	0.03702	0.006000	0.05464	0.508000	0.22692	-0.044000	0.13491	0.655000	0.94253	CAA		0.448	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			15	323	0	0	0	1	0	15	323				
HEBP1	50865	broad.mit.edu	37	12	13155765	13155765	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13155765C>T	ENST00000014930.4	-	0	0				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGATTCATGACTGAAAGAGGG	0.423																																						ENST00000543321.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:13155765C>T	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13155765C>T	Exception_encountered					HTR7P1_ENST00000535469.1_RNA								0	31	+								A8K1G2|Q9Y5Z5	RNA	SNP	ENST00000014930.4	37		CCDS31749.1																																																																																				0.423	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			8	72	0	0	0	1	0	8	72				
CNTNAP5	129684	broad.mit.edu	37	2	124783243	124783243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:124783243C>T	ENST00000431078.1	+	1	380	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	CNTNAP5_ENST00000423939.2_3'UTR|AC079154.1_ENST00000438816.1_RNA	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	6					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCTTTACCACGGCTGACCAG	0.552																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(16-18)Cgg>Tgg		contactin associated protein-like 5							122.0	127.0	125.0					2																	124783243		2001	4165	6166	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:124783243C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.16C>T	2.37:g.124783243C>T	ENSP00000399013:p.Arg6Trp					CNTNAP5_ENST00000423939.2_3'UTR	p.R6W	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	1	380	+			6					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.16C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707496	0.48412	.	.	ENSG00000155052	ENST00000431078	D	0.88277	-2.36	5.29	-3.8	0.04307	.	1.453780	0.04752	N	0.424658	T	0.81517	0.4839	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65158	-0.6236	10	0.87932	D	0	.	1.4909	0.02456	0.3287:0.3394:0.1712:0.1607	.	6	Q8WYK1	CNTP5_HUMAN	W	6	ENSP00000399013:R6W	ENSP00000399013:R6W	R	+	1	2	CNTNAP5	124499713	0.000000	0.05858	0.818000	0.32626	0.957000	0.61999	-1.557000	0.02166	-0.327000	0.08551	-0.268000	0.10319	CGG		0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			36	309	0	0	0	1	0	36	309				
PHF2	5253	broad.mit.edu	37	9	96435918	96435918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96435918C>T	ENST00000359246.4	+	18	2767	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	800					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAATGCTGTCCATGGCCAACC	0.667																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2398-2400)tcC>tcT		PHD finger protein 2							31.0	34.0	33.0					9																	96435918		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96435918C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2400C>T	9.37:g.96435918C>T						PHF2_ENST00000375376.4_Intron	p.S800S	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	18	2767	+		Myeloproliferative disorder(762;0.0255)	800					Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.2400C>T	CCDS35069.1																																																																																				0.667	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		42	224	0	0	0	1	0	42	224				
SERTAD2	9792	broad.mit.edu	37	2	64863943	64863943	+	Silent	SNP	G	G	A	rs78389198	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863943G>A	ENST00000313349.3	-	2	360	c.63C>T	c.(61-63)atC>atT	p.I21I	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	21					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGGAGACACGATTTTGCCTT	0.468													G|||	27	0.00539137	0.0204	0.0	5008	,	,		20729	0.0		0.0	False		,,,				2504	0.0					ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(61-63)atC>atT		SERTA domain containing 2		G		73,4333	64.7+/-102.0	0,73,2130	151.0	136.0	141.0		63	-1.6	0.9	2	dbSNP_132	141	0,8600		0,0,4300	no	coding-synonymous	SERTAD2	NM_014755.2		0,73,6430	AA,AG,GG		0.0,1.6568,0.5613		21/315	64863943	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863943G>A	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.63C>T	2.37:g.64863943G>A						SERTAD2_ENST00000476805.1_5'UTR	p.I21I	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	360	-			21					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.63C>T	CCDS33210.1																																																																																				0.468	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		131	586	0	0	0	1	0	131	586				
RIN3	79890	broad.mit.edu	37	14	93118417	93118417	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93118417C>T	ENST00000216487.7	+	6	1182	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	341	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGATGACCTGCGAGAGACTCC	0.697																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1021-1023)tgC>tgT		Ras and Rab interactor 3							22.0	24.0	24.0					14																	93118417		2050	4075	6125	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118417C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1023C>T	14.37:g.93118417C>T						RIN3_ENST00000418924.2_3'UTR	p.C341C	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1182	+		all_cancers(154;0.0701)	341			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.1023C>T	CCDS32144.1																																																																																				0.697	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			41	242	0	0	0	1	0	41	242				
TXLNB	167838	broad.mit.edu	37	6	139564024	139564024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139564024G>A	ENST00000358430.3	-	10	1926	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	565						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCTCCTTCGGCTTCAGCCTG	0.602																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1693-1695)gCc>gTc		taxilin beta							48.0	52.0	51.0					6																	139564024		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139564024G>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1694C>T	6.37:g.139564024G>A	ENSP00000351206:p.Ala565Val					RP1-225E12.3_ENST00000585874.1_RNA	p.A565V	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	1926	-			565					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1694C>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000164440	ENST00000358430	T	0.15256	2.44	5.07	2.3	0.28687	.	1.392830	0.04153	N	0.321664	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.37911	-0.9685	9	.	.	.	0.428	5.143	0.14969	0.1847:0.1703:0.645:0.0	.	565	Q8N3L3	TXLNB_HUMAN	V	565	ENSP00000351206:A565V	.	A	-	2	0	TXLNB	139605717	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	0.300000	0.22699	0.655000	0.94253	GCC		0.602	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		31	357	0	0	0	1	0	31	357				
SH2D3A	10045	broad.mit.edu	37	19	6754423	6754423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754423C>T	ENST00000245908.6	-	7	1380	c.1111G>A	c.(1111-1113)Gcg>Acg	p.A371T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	371					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCGGCCAGCGCCAGTGTCTGA	0.706																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(1111-1113)Gcg>Acg		SH2 domain containing 3A							6.0	7.0	7.0					19																	6754423		1889	3802	5691	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754423C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1111G>A	19.37:g.6754423C>T	ENSP00000245908:p.Ala371Thr					SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T	p.A371T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			7	1380	-			371					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.1111G>A	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770126	0.31320	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28069	1.63;1.63	4.9	-0.11	0.13580	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.664405	0.13120	N	0.412262	T	0.22244	0.0536	L	0.46741	1.465	0.24090	N	0.995915	B;B	0.18166	0.026;0.001	B;B	0.17433	0.018;0.011	T	0.24261	-1.0165	10	0.54805	T	0.06	-4.4563	3.4267	0.07413	0.4298:0.3462:0.14:0.084	.	249;371	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	371;249	ENSP00000245908:A371T;ENSP00000393303:A249T	ENSP00000245908:A371T	A	-	1	0	SH2D3A	6705423	0.196000	0.23350	0.357000	0.25798	0.351000	0.29236	-0.189000	0.09629	-0.162000	0.10964	-0.448000	0.05591	GCG		0.706	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		14	66	0	0	0	1	0	14	66				
KCNK6	9424	broad.mit.edu	37	19	38817988	38817988	+	Missense_Mutation	SNP	C	C	T	rs549369957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817988C>T	ENST00000263372.3	+	3	994	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	296					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CAGCCGGAGTCGCACCAGCAA	0.667																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(886-888)tCg>tTg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						56.0	55.0	55.0					19																	38817988		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817988C>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.887C>T	19.37:g.38817988C>T	ENSP00000263372:p.Ser296Leu						p.S296L	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		3	994	+	all_cancers(60;5.83e-07)		296					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.887C>T	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852002	0.32699	.	.	ENSG00000099337	ENST00000263372	T	0.22134	1.97	5.36	-0.937	0.10415	.	0.876074	0.10064	N	0.720521	T	0.07548	0.0190	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.36187	-0.9758	10	0.28530	T	0.3	.	4.6572	0.12624	0.1452:0.4607:0.0:0.3941	.	296	Q9Y257	KCNK6_HUMAN	L	296	ENSP00000263372:S296L	ENSP00000263372:S296L	S	+	2	0	KCNK6	43509828	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	0.128000	0.15810	0.139000	0.18822	-0.219000	0.12488	TCG		0.667	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		11	365	0	0	0	1	0	11	365				
SLC35F6	54978	broad.mit.edu	37	2	26999265	26999265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26999265G>T	ENST00000344420.5	+	5	623	c.561G>T	c.(559-561)caG>caT	p.Q187H	SLC35F6_ENST00000416475.2_Missense_Mutation_p.Q104H|SLC35F6_ENST00000482746.1_Intron|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	187					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TCATGGCCCAGATCATCGTTG	0.592																																						ENST00000344420.5																			0											c.(559-561)caG>caT		solute carrier family 35, member F6							117.0	94.0	102.0					2																	26999265		2203	4300	6503	SO:0001583	missense	54978							g.chr2:26999265G>T	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.561G>T	2.37:g.26999265G>T	ENSP00000345528:p.Gln187His					CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.Q104H|SLC35F6_ENST00000482746.1_Intron	p.Q187H	NM_017877.3	NP_060347.2					5	623	+								D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	c.561G>T	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299274	0.81136	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.12	4.24	0.50183	.	0.111106	0.64402	D	0.000006	D	0.84871	0.5568	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.73708	0.975;0.981	D	0.87155	0.2211	9	0.45353	T	0.12	.	12.7857	0.57504	0.0819:0.0:0.9181:0.0	.	104;187	B4DLH2;Q8N357	.;CB018_HUMAN	H	187;104	.	ENSP00000345528:Q187H	Q	+	3	2	C2orf18	26852769	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.896000	0.63222	2.395000	0.81488	0.561000	0.74099	CAG		0.592	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		83	253	1	0	5.42381e-49	1	6.70277e-49	83	253				
NAT2	10	broad.mit.edu	37	8	18258174	18258174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18258174T>G	ENST00000286479.3	+	2	768	c.661T>G	c.(661-663)Tca>Gca	p.S221A	NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	221					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	TATAACCACATCATTTTGTTC	0.368									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(661-663)Tca>Gca		N-acetyltransferase 2 (arylamine N-acetyltransferase)							83.0	87.0	85.0					8																	18258174		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18258174T>G	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.661T>G	8.37:g.18258174T>G	ENSP00000286479:p.Ser221Ala					NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	p.S221A	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	768	+			221					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.661T>G	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	T	9.220	1.033049	0.19590	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.01767	4.65;4.65	2.67	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.91972	3.26	0.23747	N	0.996957	D	0.76494	0.999	D	0.81914	0.995	T	0.02275	-1.1184	10	0.62326	D	0.03	.	7.2032	0.25893	0.0:0.0:0.0:1.0	.	221	A4Z6T7	.	A	221;91	ENSP00000286479:S221A;ENSP00000428416:S91A	ENSP00000286479:S221A	S	+	1	0	NAT2	18302454	1.000000	0.71417	0.020000	0.16555	0.098000	0.18820	3.553000	0.53713	1.462000	0.47948	0.358000	0.22013	TCA		0.368	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		87	401	0	0	0	1	0	87	401				
PSMB5	5693	broad.mit.edu	37	14	23504175	23504175	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23504175C>A	ENST00000361611.6	-	0	179				PSMB5_ENST00000460922.2_5'Flank|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000493471.2_5'Flank|PSMB5_ENST00000425762.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GCTTCACTTCCTATTAAATCT	0.522																																						ENST00000361611.6																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7								proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)																																					5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23504175C>A	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.-85G>T	14.37:g.23504175C>A						PSMB5_ENST00000425762.2_Intron		NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	0	179	-	all_cancers(95;3.3e-05)							B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Translation_Start_Site	SNP	ENST00000361611.6	37		CCDS9584.1																																																																																				0.522	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		11	28	1	0	0.00829132	1	0.00834067	11	28				
TMEM179	388021	broad.mit.edu	37	14	105063451	105063451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105063451C>T	ENST00000556573.1	-	2	560	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	TMEM179_ENST00000341595.3_Missense_Mutation_p.A107T			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	107						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		TTCAGGAAGGCGGAGAAGAAG	0.632																																						ENST00000341595.3																			0				endometrium(1)|lung(2)|skin(1)	4						c.(319-321)Gcc>Acc		transmembrane protein 179							66.0	45.0	53.0					14																	105063451		2199	4296	6495	SO:0001583	missense	388021					integral to membrane		g.chr14:105063451C>T	AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 90"""	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.319G>A	14.37:g.105063451C>T	ENSP00000450958:p.Ala107Thr					TMEM179_ENST00000556573.1_Missense_Mutation_p.A107T	p.A107T	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)	2	1224	-			107						Missense_Mutation	SNP	ENST00000556573.1	37	c.319G>A		.	.	.	.	.	.	.	.	.	.	C	13.74	2.326812	0.41197	.	.	ENSG00000189203;ENSG00000258986;ENSG00000258986	ENST00000415614;ENST00000556573;ENST00000341595	T;T;T	0.17054	2.3;2.3;2.3	3.45	2.46	0.29980	.	0.444482	0.23160	N	0.051254	T	0.15825	0.0381	L	0.52126	1.63	0.42111	D	0.991384	P	0.52170	0.951	B	0.40134	0.32	T	0.13361	-1.0512	10	0.51188	T	0.08	.	12.3378	0.55077	0.1687:0.8313:0.0:0.0	.	107	Q6ZVK1-2	.	T	107	ENSP00000397763:A107T;ENSP00000450958:A107T;ENSP00000340477:A107T	ENSP00000340477:A107T	A	-	1	0	RP11-614O9.3;TMEM179	104134496	0.996000	0.38824	0.841000	0.33234	0.539000	0.34962	3.407000	0.52644	1.640000	0.50565	0.442000	0.29010	GCC		0.632	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	NM_207379		13	34	0	0	0	1	0	13	34				
ADHFE1	137872	broad.mit.edu	37	8	67369306	67369306	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67369306C>T	ENST00000396623.3	+	12	1098	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	ADHFE1_ENST00000415254.1_Splice_Site_p.P308L|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	356					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCTCCCCAGCCCCATGGCCTT	0.522																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.e12-1		alcohol dehydrogenase, iron containing, 1							174.0	160.0	165.0					8																	67369306		2203	4300	6503	SO:0001630	splice_region_variant	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67369306C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1066-1C>T	8.37:g.67369306C>T						ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Splice_Site_p.P308_splice	p.P356_splice	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		12	1098	+		Lung NSC(129;0.197)	356					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Splice_Site	SNP	ENST00000396623.3	37	c.1065_splice	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	34	5.403705	0.96051	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.52057	0.68;0.68	5.83	5.83	0.93111	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	H	0.98314	4.2	0.80722	D	1	D	0.59357	0.985	D	0.64506	0.926	D	0.88264	0.2925	10	0.87932	D	0	-10.1005	20.1084	0.97900	0.0:1.0:0.0:0.0	.	356	Q8IWW8	HOT_HUMAN	L	356;308	ENSP00000379865:P356L;ENSP00000407115:P308L	ENSP00000379865:P356L	P	+	2	0	ADHFE1	67531860	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.690000	0.84178	2.752000	0.94435	0.563000	0.77884	CCC		0.522	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	Missense_Mutation	32	954	0	0	0	1	0	32	954				
NCOR1	9611	broad.mit.edu	37	17	15989758	15989758	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989758T>G	ENST00000268712.3	-	23	3274		c.e23-2		NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTGAAGGACTTTTAAAAGGA	0.418																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.e23-2		nuclear receptor corepressor 1							58.0	59.0	59.0					17																	15989758		2203	4300	6503	SO:0001630	splice_region_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15989758T>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3017-2A>C	17.37:g.15989758T>G						NCOR1_ENST00000395851.1_Splice_Site		NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3274	-								B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	ENST00000268712.3	37		CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654394	0.67472	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000436068	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1246	0.65213	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15930483	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.235000	0.72332	2.272000	0.75746	0.524000	0.50904	.		0.418	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	Intron	30	176	0	0	0	1	0	30	176				
BDNF	627	broad.mit.edu	37	11	27679922	27679922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27679922C>T	ENST00000525528.1	-	1	1283	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000530313.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	64					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						ATCACGTGTTCGAAAGTGTCA	0.532																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(190-192)Gaa>Aaa		brain-derived neurotrophic factor							198.0	190.0	193.0					11																	27679922		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27679922C>T	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.190G>A	11.37:g.27679922C>T	ENSP00000437138:p.Glu64Lys					BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K	p.E64K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1283	-			64					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.190G>A	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446234	0.63178	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.995;0.992;0.995	D;D;D;D;D	0.85130	0.997;0.919;0.97;0.935;0.97	T	0.80056	-0.1542	10	0.87932	D	0	-18.7903	20.8598	0.99761	0.0:1.0:0.0:0.0	.	93;146;72;64;79	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	K	64;64;79;64;64;64;64;64;64;146;64;64;64;64;64;72;64;64	ENSP00000389345:E64K;ENSP00000437138:E64K;ENSP00000379309:E79K;ENSP00000432727:E64K;ENSP00000349084:E64K;ENSP00000400502:E64K;ENSP00000432376:E64K;ENSP00000435564:E64K;ENSP00000379307:E64K;ENSP00000414303:E146K;ENSP00000379304:E64K;ENSP00000435805:E64K;ENSP00000379305:E64K;ENSP00000379302:E64K;ENSP00000432035:E64K;ENSP00000320002:E72K;ENSP00000389564:E64K	ENSP00000320002:E72K	E	-	1	0	BDNF	27636498	1.000000	0.71417	0.991000	0.47740	0.874000	0.50279	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	GAA		0.532	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		137	652	0	0	0	1	0	137	652				
SLC22A4	6583	broad.mit.edu	37	5	131667484	131667484	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131667484T>G	ENST00000200652.3	+	6	1161	c.987T>G	c.(985-987)atT>atG	p.I329M	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	329					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AAGCTTTCATTCTGGACCTGT	0.398																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(985-987)atT>atG		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						170.0	165.0	167.0					5																	131667484		2203	4300	6503	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131667484T>G	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.987T>G	5.37:g.131667484T>G	ENSP00000200652:p.Ile329Met					AC034220.3_ENST00000417795.1_RNA	p.I329M	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1161	+		all_cancers(142;0.0752)|Breast(839;0.198)	329					O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.987T>G	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440925	0.25900	.	.	ENSG00000197208	ENST00000200652	T	0.74947	-0.89	5.86	-0.898	0.10550	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.307285	0.39834	N	0.001253	T	0.72407	0.3456	M	0.71581	2.175	0.36416	D	0.864046	B	0.32467	0.372	B	0.39771	0.309	T	0.70498	-0.4855	10	0.35671	T	0.21	.	11.4059	0.49898	0.0:0.3915:0.0:0.6085	.	329	Q9H015	S22A4_HUMAN	M	329	ENSP00000200652:I329M	ENSP00000200652:I329M	I	+	3	3	SLC22A4	131695383	0.990000	0.36364	0.992000	0.48379	0.179000	0.23085	0.358000	0.20216	-0.096000	0.12329	-0.290000	0.09829	ATT		0.398	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		116	466	0	0	0	1	0	116	466				
SELE	6401	broad.mit.edu	37	1	169695060	169695060	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695060A>C	ENST00000333360.7	-	12	1902	c.1763T>G	c.(1762-1764)tTt>tGt	p.F588C	SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C|SELE_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367774.1_Missense_Mutation_p.F462C|SELE_ENST00000367776.1_Missense_Mutation_p.F525C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.F463C	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	588					actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GGCAGGAACAAATTTCTTTGC	0.323																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1762-1764)tTt>tGt		selectin E							70.0	70.0	70.0					1																	169695060		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169695060A>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1763T>G	1.37:g.169695060A>C	ENSP00000331736:p.Phe588Cys					SELE_ENST00000367776.1_Missense_Mutation_p.F525C|SELE_ENST00000367780.4_Missense_Mutation_p.F463C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C|SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367774.1_Missense_Mutation_p.F462C	p.F588C	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			12	1902	-	all_hematologic(923;0.208)		588					A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1763T>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795961	0.50208	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21031	2.1;2.03;2.24;2.04;2.07;2.03;2.24;2.1;2.04	5.08	5.08	0.68730	.	0.206931	0.24539	N	0.037653	T	0.31857	0.0810	M	0.72894	2.215	0.35693	D	0.814992	D	0.76494	0.999	D	0.65573	0.936	T	0.25047	-1.0143	10	0.66056	D	0.02	-27.9936	11.5612	0.50778	1.0:0.0:0.0:0.0	.	588	P16581	LYAM2_HUMAN	C	525;525;463;462;588;525;463;525;462	ENSP00000356755:F525C;ENSP00000356756:F525C;ENSP00000356754:F463C;ENSP00000356753:F462C;ENSP00000331736:F588C;ENSP00000356751:F525C;ENSP00000356749:F463C;ENSP00000356750:F525C;ENSP00000356748:F462C	ENSP00000331736:F588C	F	-	2	0	SELE	167961684	1.000000	0.71417	0.986000	0.45419	0.487000	0.33371	5.264000	0.65513	2.050000	0.60909	0.528000	0.53228	TTT		0.323	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		8	296	0	0	0	1	0	8	296				
CGNL1	84952	broad.mit.edu	37	15	57754064	57754064	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57754064A>C	ENST00000281282.5	+	8	2455	c.2377A>C	c.(2377-2379)Agg>Cgg	p.R793R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	793						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGCCCTGAGGGAGAGTGT	0.537																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(2377-2379)Agg>Cgg		cingulin-like 1							89.0	84.0	86.0					15																	57754064		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57754064A>C	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2377A>C	15.37:g.57754064A>C							p.R793R	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	8	2455	+			793					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.2377A>C	CCDS10161.1																																																																																				0.537	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		45	242	0	0	0	1	0	45	242				
SLC27A4	10999	broad.mit.edu	37	9	131110845	131110845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131110845G>A	ENST00000300456.4	+	4	695	c.578G>A	c.(577-579)aGc>aAc	p.S193N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	193					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTCCATGCCAGCCTGGACCCC	0.647																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(577-579)aGc>aAc		solute carrier family 27 (fatty acid transporter), member 4							65.0	69.0	68.0					9																	131110845		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131110845G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.578G>A	9.37:g.131110845G>A	ENSP00000300456:p.Ser193Asn					SLC27A4_ENST00000372870.1_Intron	p.S193N	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			4	695	+			193					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.578G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045492	0.36085	.	.	ENSG00000167114	ENST00000300456	T	0.42131	0.98	5.54	-0.0676	0.13759	AMP-dependent synthetase/ligase (1);	0.545020	0.21401	N	0.075159	T	0.26666	0.0652	L	0.47190	1.495	0.41841	D	0.990121	B	0.06786	0.001	B	0.10450	0.005	T	0.07673	-1.0760	10	0.27785	T	0.31	-22.4619	1.3239	0.02121	0.306:0.223:0.3486:0.1224	.	193	Q6P1M0	S27A4_HUMAN	N	193	ENSP00000300456:S193N	ENSP00000300456:S193N	S	+	2	0	SLC27A4	130150666	0.476000	0.25901	0.556000	0.28293	0.974000	0.67602	0.320000	0.19540	-0.005000	0.14395	-0.367000	0.07326	AGC		0.647	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			86	359	0	0	0	1	0	86	359				
HERC2	8924	broad.mit.edu	37	15	28446601	28446601	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28446601C>T	ENST00000261609.7	-	48	7825		c.e48+1			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAATTACTCACCTGAATATTC	0.433																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.e48+1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97.0	89.0	92.0					15																	28446601		2203	4299	6502	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28446601C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7716+1G>A	15.37:g.28446601C>T								NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	48	7825	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)							Splice_Site	SNP	ENST00000261609.7	37		CCDS10021.1	.	.	.	.	.	.	.	.	.	.	-	23.4	4.411424	0.83340	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6662	0.91491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26120196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.629000	0.83207	2.577000	0.86979	0.561000	0.74099	.		0.433	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Intron	71	311	0	0	0	1	0	71	311				
E2F7	144455	broad.mit.edu	37	12	77423632	77423632	+	Silent	SNP	C	C	T	rs140294649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77423632C>T	ENST00000322886.7	-	10	2098	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	E2F7_ENST00000416496.2_Silent_p.P621P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	621					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAAGCGACAGCGGGCCGTCTT	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20224	0.0		0.0	False		,,,				2504	0.0					ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(1861-1863)ccG>ccA		E2F transcription factor 7		C		3,4403	6.2+/-15.9	0,3,2200	103.0	95.0	98.0		1863	-9.9	0.0	12	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	E2F7	NM_203394.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		621/912	77423632	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77423632C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1863G>A	12.37:g.77423632C>T						E2F7_ENST00000416496.2_Silent_p.P621P	p.P621P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			10	2098	-			621					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	c.1863G>A	CCDS9016.1																																																																																				0.522	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		65	303	0	0	0	1	0	65	303				
CCDC13	152206	broad.mit.edu	37	3	42777266	42777266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42777266G>A	ENST00000310232.6	-	10	1387	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	435										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGCTACCATGGCCTGCAGCTG	0.602																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1303-1305)gCc>gTc		coiled-coil domain containing 13							112.0	96.0	101.0					3																	42777266		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42777266G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1304C>T	3.37:g.42777266G>A	ENSP00000309836:p.Ala435Val					CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	p.A435V	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			10	1387	-			435						Missense_Mutation	SNP	ENST00000310232.6	37	c.1304C>T	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581586	0.28180	.	.	ENSG00000244607	ENST00000310232	T	0.24538	1.85	4.76	3.78	0.43462	.	0.732062	0.12831	N	0.435649	T	0.28300	0.0699	L	0.56769	1.78	0.24385	N	0.994771	P	0.46512	0.879	B	0.43536	0.423	T	0.08229	-1.0732	10	0.30078	T	0.28	.	11.422	0.49987	0.0:0.0:0.7064:0.2935	.	435	Q8IYE1	CCD13_HUMAN	V	435	ENSP00000309836:A435V	ENSP00000309836:A435V	A	-	2	0	CCDC13	42752270	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.925000	0.48884	2.202000	0.70862	0.511000	0.50034	GCC		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		87	470	0	0	0	1	0	87	470				
CHPF	79586	broad.mit.edu	37	2	220404532	220404532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220404532G>T	ENST00000243776.6	-	4	2149	c.1901C>A	c.(1900-1902)tCc>tAc	p.S634Y	CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	634					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGCCAGCCGGAGATGGCATG	0.652																																						ENST00000243776.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(1900-1902)tCc>tAc		chondroitin polymerizing factor							75.0	77.0	76.0					2																	220404532		2198	4292	6490	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404532G>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1901C>A	2.37:g.220404532G>T	ENSP00000243776:p.Ser634Tyr					CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	p.S634Y	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2149	-		Renal(207;0.0183)	634					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.1901C>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945595	0.53079	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16457	2.34;2.34	4.62	4.62	0.57501	.	0.291280	0.34200	N	0.004164	T	0.33818	0.0876	L	0.61218	1.895	0.33336	D	0.569161	D	0.56521	0.976	P	0.62649	0.905	T	0.43861	-0.9365	10	0.56958	D	0.05	-17.1883	11.0376	0.47811	0.0:0.0:0.6841:0.3159	.	634	Q8IZ52	CHSS2_HUMAN	Y	634;472	ENSP00000243776:S634Y;ENSP00000445571:S472Y	ENSP00000243776:S634Y	S	-	2	0	CHPF	220112776	0.994000	0.37717	0.973000	0.42090	0.976000	0.68499	2.469000	0.45110	2.563000	0.86464	0.561000	0.74099	TCC		0.652	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		68	846	1	0	2.81305e-35	1	3.35631e-35	68	846				
LPCAT3	10162	broad.mit.edu	37	12	7091893	7091893	+	Missense_Mutation	SNP	G	G	T	rs376479324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7091893G>T	ENST00000261407.4	-	3	395	c.310C>A	c.(310-312)Ctt>Att	p.L104I	LPCAT3_ENST00000535021.1_5'Flank|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	104					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATTAGTCGAAGGATGAGGAAC	0.517																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(310-312)Ctt>Att		lysophosphatidylcholine acyltransferase 3							170.0	143.0	152.0					12																	7091893		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7091893G>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.310C>A	12.37:g.7091893G>T	ENSP00000261407:p.Leu104Ile					U47924.19_ENST00000564245.1_RNA	p.L104I	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			3	395	-			104					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.310C>A	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110867	0.77210	.	.	ENSG00000111684	ENST00000261407	T	0.71934	-0.61	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.64170	1.965	0.58432	D	0.999999	D	0.62365	0.991	P	0.51016	0.656	T	0.70464	-0.4864	10	0.17369	T	0.5	-8.131	19.1278	0.93393	0.0:0.0:1.0:0.0	.	104	Q6P1A2	MBOA5_HUMAN	I	104	ENSP00000261407:L104I	ENSP00000261407:L104I	L	-	1	0	LPCAT3	6962154	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.477000	0.60223	2.756000	0.94617	0.561000	0.74099	CTT		0.517	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		24	163	1	0	3.28513e-13	1	3.54196e-13	24	163				
TUBGCP2	10844	broad.mit.edu	37	10	135095825	135095825	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095825A>G	ENST00000252936.3	-	15	2350	c.2311T>C	c.(2311-2313)Tta>Cta	p.L771L	TUBGCP2_ENST00000368563.2_Silent_p.L771L|TUBGCP2_ENST00000368562.1_Silent_p.L364L|TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000543663.1_Silent_p.L799L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	771					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCGCCATCTAATTTCATGCTC	0.582																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2311-2313)Tta>Cta		tubulin, gamma complex associated protein 2							20.0	24.0	22.0					10																	135095825		2199	4299	6498	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135095825A>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2311T>C	10.37:g.135095825A>G						TUBGCP2_ENST00000543663.1_Silent_p.L799L|TUBGCP2_ENST00000252936.3_Silent_p.L771L|TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000368562.1_Silent_p.L364L	p.L771L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	16	2667	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	771					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.2311T>C	CCDS7676.1																																																																																				0.582	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			31	134	0	0	0	1	0	31	134				
HCRTR2	3062	broad.mit.edu	37	6	55128552	55128552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55128552T>C	ENST00000370862.3	+	4	1030	c.694T>C	c.(694-696)Tac>Cac	p.Y232H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	232					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTGGTGACATACATGGCACC	0.373																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(694-696)Tac>Cac		hypocretin (orexin) receptor 2							142.0	117.0	125.0					6																	55128552		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55128552T>C	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.694T>C	6.37:g.55128552T>C	ENSP00000359899:p.Tyr232His						p.Y232H	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	1030	+	Lung NSC(77;0.107)|Renal(3;0.122)		232					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.694T>C	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608309	0.87258	.	.	ENSG00000137252	ENST00000370862	T	0.72505	-0.66	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88220	0.6378	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92202	0.5769	10	0.87932	D	0	.	16.0445	0.80711	0.0:0.0:0.0:1.0	.	232;232	Q548Y0;O43614	.;OX2R_HUMAN	H	232	ENSP00000359899:Y232H	ENSP00000359899:Y232H	Y	+	1	0	HCRTR2	55236511	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	7.593000	0.82686	2.197000	0.70478	0.491000	0.48974	TAC		0.373	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			37	138	0	0	0	1	0	37	138				
PTGS2	5743	broad.mit.edu	37	1	186645084	186645084	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186645084C>T	ENST00000367468.5	-	8	1339	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	401					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTCCATGTTCCAGCAATATAG	0.388																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1201-1203)ctG>ctA		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						127.0	123.0	124.0					1																	186645084		2203	4300	6503	SO:0001819	synonymous_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645084C>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1203G>A	1.37:g.186645084C>T						PTGS2_ENST00000490885.2_5'UTR	p.L401L	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			8	1339	-			401					A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	c.1203G>A	CCDS1371.1																																																																																				0.388	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		103	312	0	0	0	1	0	103	312				
TUBBP1	92755	broad.mit.edu	37	8	30209854	30209854	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30209854G>A	ENST00000518096.1	+	0	466									tubulin, beta pseudogene 1																		AGAGGGCGCCGAGCTGGTTGA	0.572																																						ENST00000518096.1																			0																																																			0							g.chr8:30209854G>A	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209854G>A														0	466	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.572	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		71	269	0	0	0	1	0	71	269				
CRX	1406	broad.mit.edu	37	19	48343134	48343134	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48343134G>A	ENST00000221996.7	+	4	1016	c.810G>A	c.(808-810)aaG>aaA	p.K270K	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.K270K	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	270					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TGGAATTCAAGGACCCCACGG	0.582																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(808-810)aaG>aaA		cone-rod homeobox							93.0	98.0	96.0					19																	48343134		2203	4297	6500	SO:0001819	synonymous_variant	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48343134G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.810G>A	19.37:g.48343134G>A						CRX_ENST00000539067.1_Silent_p.K270K|TPRX2P_ENST00000535362.1_Intron	p.K270K	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	1016	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	270					Q0QD45	Silent	SNP	ENST00000221996.7	37	c.810G>A	CCDS12706.1																																																																																				0.582	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		154	784	0	0	0	1	0	154	784				
TRIM16L	147166	broad.mit.edu	37	17	18638561	18638561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638561C>T	ENST00000449552.2	+	7	2319	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F|TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	279	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TTTCTGGAGGCTCGGGGTCTA	0.517																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(835-837)Ctc>Ttc		tripartite motif containing 16-like							76.0	77.0	77.0					17																	18638561		2203	4300	6503	SO:0001583	missense	147166					cytoplasm		g.chr17:18638561C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.835C>T	17.37:g.18638561C>T	ENSP00000461386:p.Leu279Phe					TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F	p.L279F			Q309B1	TR16L_HUMAN			7	2319	+			279			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.835C>T	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	11.08	1.534703	0.27475	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.70631	-0.5;-0.5;-0.5	3.35	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.435857	0.21766	U	0.069431	T	0.70211	0.3198	L	0.35644	1.08	0.29799	N	0.832596	D;D;D	0.69078	0.976;0.997;0.976	P;D;P	0.63703	0.812;0.917;0.812	T	0.65080	-0.6255	10	0.87932	D	0	-11.0171	4.6322	0.12507	0.0:0.642:0.2274:0.1306	.	333;495;279	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	F	333;279;279	ENSP00000379239:L333F;ENSP00000379031:L279F;ENSP00000379030:L279F	ENSP00000379030:L279F	L	+	1	0	TRIM16L	18579286	1.000000	0.71417	0.682000	0.30024	0.073000	0.16967	1.577000	0.36515	0.599000	0.29845	0.194000	0.17425	CTC		0.517	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		13	442	0	0	0	1	0	13	442				
C5orf49	134121	broad.mit.edu	37	5	7832130	7832130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7832130G>T	ENST00000399810.2	-	3	745	c.277C>A	c.(277-279)Ccg>Acg	p.P93T	C5orf49_ENST00000509627.1_Missense_Mutation_p.P91T	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	93										large_intestine(3)|lung(5)|skin(1)	9						ACTCCAACCGGCCTCTCCTGT	0.567																																						ENST00000399810.2																			0				large_intestine(3)|lung(5)|skin(1)	9						c.(277-279)Ccg>Acg		chromosome 5 open reading frame 49							122.0	130.0	128.0					5																	7832130		2072	4214	6286	SO:0001583	missense	134121							g.chr5:7832130G>T		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.277C>A	5.37:g.7832130G>T	ENSP00000382708:p.Pro93Thr					C5orf49_ENST00000509627.1_Missense_Mutation_p.P91T	p.P93T	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN			3	745	-			93						Missense_Mutation	SNP	ENST00000399810.2	37	c.277C>A	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727191	0.03158	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.30448	1.53;1.53	4.72	3.78	0.43462	.	.	.	.	.	T	0.17066	0.0410	N	0.20685	0.6	0.32611	N	0.524627	B	0.17465	0.022	B	0.15052	0.012	T	0.20009	-1.0288	9	0.06494	T	0.89	-30.4253	10.888	0.46978	0.0:0.0:0.7548:0.2452	.	93	A4QMS7	CE049_HUMAN	T	93;91	ENSP00000382708:P93T;ENSP00000426019:P91T	ENSP00000382708:P93T	P	-	1	0	C5orf49	7885130	1.000000	0.71417	0.702000	0.30337	0.130000	0.20726	1.711000	0.37930	0.949000	0.37715	0.555000	0.69702	CCG		0.567	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		124	660	1	0	1.49341e-58	1	1.8736e-58	124	660				
SLC9C2	284525	broad.mit.edu	37	1	173542452	173542452	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173542452A>C	ENST00000367714.3	-	9	1337	c.915T>G	c.(913-915)atT>atG	p.I305M	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203M	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	305					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CAGATGAAAAAATTCTTAAGA	0.264																																						ENST00000367714.3																			0											c.(913-915)atT>atG		solute carrier family 9, member C2 (putative)							33.0	35.0	34.0					1																	173542452		2200	4290	6490	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173542452A>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.915T>G	1.37:g.173542452A>C	ENSP00000356687:p.Ile305Met					SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203M|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	p.I305M	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			9	1337	-			305					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.915T>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	0.368	-0.935365	0.02340	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06528	3.29;3.29	5.04	1.67	0.24075	Cation/H+ exchanger (1);	0.667115	0.14593	N	0.310103	T	0.00412	0.0013	N	0.00436	-1.5	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.46247	-0.9205	10	0.02654	T	1	-12.9559	7.3772	0.26835	0.3368:0.5059:0.1573:0.0	.	305	Q5TAH2	S9A11_HUMAN	M	305;203	ENSP00000356687:I305M;ENSP00000445437:I203M	ENSP00000356687:I305M	I	-	3	3	SLC9A11	171809075	0.237000	0.23815	0.376000	0.26042	0.065000	0.16274	-0.243000	0.08915	1.105000	0.41606	-0.286000	0.09958	ATT		0.264	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		25	80	0	0	0	1	0	25	80				
GALNT2	2590	broad.mit.edu	37	1	230415072	230415072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230415072C>T	ENST00000366672.4	+	16	1656	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	GALNT2_ENST00000543760.1_Silent_p.N490N|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	528	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TCGAGGGCAACTCCAAGCTGA	0.587																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1582-1584)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							69.0	62.0	65.0					1																	230415072		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230415072C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1584C>T	1.37:g.230415072C>T						GALNT2_ENST00000543760.1_Silent_p.N490N|GALNT2_ENST00000485438.1_3'UTR	p.N528N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			16	1656	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	528			Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.1584C>T	CCDS1582.1																																																																																				0.587	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		78	200	0	0	0	1	0	78	200				
LGALS4	3960	broad.mit.edu	37	19	39292481	39292481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292481G>A	ENST00000307751.4	-	10	1372	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	299	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAGAGGCGATGGGCAAAGTCA	0.547																																						ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(895-897)Cat>Tat		lectin, galactoside-binding, soluble, 4							90.0	77.0	81.0					19																	39292481		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292481G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.895C>T	19.37:g.39292481G>A	ENSP00000302100:p.His299Tyr						p.H299Y	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		10	1372	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		299			Galectin 2.			Missense_Mutation	SNP	ENST00000307751.4	37	c.895C>T	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034770	0.54896	.	.	ENSG00000171747	ENST00000307751	T	0.04970	3.52	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.81802	2.56	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.02617	-1.1133	10	0.87932	D	0	-25.5554	17.3497	0.87320	0.0:0.0:1.0:0.0	.	299	P56470	LEG4_HUMAN	Y	299	ENSP00000302100:H299Y	ENSP00000302100:H299Y	H	-	1	0	LGALS4	43984321	1.000000	0.71417	0.716000	0.30569	0.023000	0.10783	6.365000	0.73090	2.397000	0.81536	0.491000	0.48974	CAT		0.547	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		12	436	0	0	0	1	0	12	436				
IRF3	3661	broad.mit.edu	37	19	50166680	50166680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50166680C>T	ENST00000597198.1	-	3	638	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IRF3_ENST00000598808.1_5'UTR|BCL2L12_ENST00000246785.3_5'Flank|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000599680.1_5'Flank|BCL2L12_ENST00000246784.3_5'Flank|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.R86H|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000596765.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	86					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCTTCTTTGCGGTTGAGGGC	0.577																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(256-258)cGc>cAc		interferon regulatory factor 3							67.0	60.0	63.0					19																	50166680		2203	4300	6503	SO:0001583	missense	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50166680C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.257G>A	19.37:g.50166680C>T	ENSP00000469113:p.Arg86His					IRF3_ENST00000377139.3_Missense_Mutation_p.R86H|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|IRF3_ENST00000600022.1_5'UTR	p.R86H			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	3	638	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	86					A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.257G>A	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017058	0.54576	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.97811	-4.55;-4.55;-4.55	4.92	4.92	0.64577	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.255793	0.32785	N	0.005658	D	0.98267	0.9426	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.973;0.999	D;P;P;P;D	0.68621	0.955;0.82;0.82;0.537;0.959	D	0.99157	1.0860	10	0.72032	D	0.01	-24.1366	15.961	0.79930	0.0:1.0:0.0:0.0	.	86;86;86;86;86	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	H	86	ENSP00000366344:R86H;ENSP00000310127:R86H;ENSP00000366339:R86H	ENSP00000310127:R86H	R	-	2	0	IRF3	54858492	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.047000	0.49854	2.451000	0.82905	0.655000	0.94253	CGC		0.577	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		52	217	0	0	0	1	0	52	217				
ZNF335	63925	broad.mit.edu	37	20	44588995	44588995	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44588995C>A	ENST00000322927.2	-	14	1972	c.1872G>T	c.(1870-1872)gaG>gaT	p.E624D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	624					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACTCACAGAACTCACACTTGA	0.552																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1870-1872)gaG>gaT		zinc finger protein 335							85.0	100.0	95.0					20																	44588995		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44588995C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1872G>T	20.37:g.44588995C>A	ENSP00000325326:p.Glu624Asp					ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	p.E624D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			14	1972	-		Myeloproliferative disorder(115;0.0122)	624					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1872G>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254580	0.39896	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.27720	1.65;1.65	5.37	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.24115	0.695	0.51482	D	0.999921	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.06023	-1.0850	10	0.24483	T	0.36	-27.9562	11.7575	0.51884	0.0:0.8556:0.0:0.1444	.	469;624	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	624;401;469	ENSP00000325326:E624D;ENSP00000397098:E469D	ENSP00000243961:E401D	E	-	3	2	ZNF335	44022402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.980000	0.29513	1.511000	0.48818	0.650000	0.86243	GAG		0.552	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		34	210	1	0	3.90053e-15	1	4.25374e-15	34	210				
KALRN	8997	broad.mit.edu	37	3	124413187	124413187	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413187G>T	ENST00000291478.5	+	20	2486	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.E2472*|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2471					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTGGCCCCAGAATTCCTTGT	0.458																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7414-7416)Gaa>Taa		kalirin, RhoGEF kinase							152.0	141.0	145.0					3																	124413187		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124413187G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2323G>T	3.37:g.124413187G>T	ENSP00000291478:p.Glu775*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.E775*	p.E2472*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			53	7541	+			2471			Ig-like C2-type.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7414G>T	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.291176|9.291176	0.99127|0.99127	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76300	.|0.3968	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73366	.|-0.4005	.|3	0.07175|.	T|.	0.84|.	.|.	18.8398|18.8398	0.92177|0.92177	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	2472;775;743|2440	.|.	ENSP00000291478:E775X|.	E|Q	+|+	1|3	0|2	KALRN|KALRN	125895877|125895877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	8.739000|8.739000	0.91574|0.91574	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.458	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		12	523	1	0	1.3612e-06	1	1.40558e-06	12	523				
TECTA	7007	broad.mit.edu	37	11	120989026	120989026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989026C>T	ENST00000392793.1	+	7	1073	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TECTA_ENST00000264037.2_Missense_Mutation_p.R268W			O75443	TECTA_HUMAN	tectorin alpha	268	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAATTCCTTCGGCGAGGGGA	0.493																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(802-804)Cgg>Tgg		tectorin alpha							67.0	63.0	64.0					11																	120989026		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989026C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.802C>T	11.37:g.120989026C>T	ENSP00000376543:p.Arg268Trp					TECTA_ENST00000264037.2_Missense_Mutation_p.R268W	p.R268W			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1073	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	268			VWFC.			Missense_Mutation	SNP	ENST00000392793.1	37	c.802C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234424	0.79800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.66099	-0.19;-0.19	5.66	5.66	0.87406	von Willebrand factor, type C (1);	0.065114	0.64402	D	0.000015	T	0.75459	0.3852	L	0.60455	1.87	0.35964	D	0.834817	D	0.89917	1.0	P	0.60609	0.877	T	0.80819	-0.1212	10	0.72032	D	0.01	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	268	O75443	TECTA_HUMAN	W	268	ENSP00000376543:R268W;ENSP00000264037:R268W	ENSP00000264037:R268W	R	+	1	2	TECTA	120494236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.071000	0.50041	2.653000	0.90120	0.563000	0.77884	CGG		0.493	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		40	183	0	0	0	1	0	40	183				
NETO1	81832	broad.mit.edu	37	18	70417673	70417673	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417673C>T	ENST00000327305.6	-	9	1822	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NETO1_ENST00000299430.2_Missense_Mutation_p.E388K|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.E389K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	389					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGAGGAGGTTCAAATACCTCC	0.428																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1165-1167)Gaa>Aaa		neuropilin (NRP) and tolloid (TLL)-like 1							88.0	82.0	84.0					18																	70417673		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417673C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1165G>A	18.37:g.70417673C>T	ENSP00000313088:p.Glu389Lys					NETO1_ENST00000299430.2_Missense_Mutation_p.E388K|NETO1_ENST00000583169.1_Missense_Mutation_p.E389K	p.E389K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1822	-		Esophageal squamous(42;0.129)	389					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1165G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408397	0.96051	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.44881	0.91;0.91	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000011	T	0.63105	0.2483	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.76071	0.987;0.867	T	0.65043	-0.6264	10	0.72032	D	0.01	-21.3855	19.1774	0.93607	0.0:1.0:0.0:0.0	.	388;389	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	389;388	ENSP00000313088:E389K;ENSP00000299430:E388K	ENSP00000299430:E388K	E	-	1	0	NETO1	68568653	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.442000	0.80503	2.594000	0.87642	0.455000	0.32223	GAA		0.428	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		66	291	0	0	0	1	0	66	291				
MCF2	4168	broad.mit.edu	37	X	138727816	138727816	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:138727816G>A	ENST00000370576.4	-	0	0				MCF2_ENST00000414978.1_Splice_Site_p.Q48*|MCF2_ENST00000370578.4_Splice_Site_p.Q133*|MCF2_ENST00000519895.1_Splice_Site_p.Q48*|MCF2_ENST00000536274.1_5'Flank|MCF2_ENST00000520602.1_Splice_Site_p.Q48*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GATCCATTTTGCCTGAACGAT	0.318																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.e4-1		MCF.2 cell line derived transforming sequence							58.0	50.0	53.0					X																	138727816		1815	4061	5876	SO:0001631	upstream_gene_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138727816G>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537		X.37:g.138727816G>A	Exception_encountered					MCF2_ENST00000414978.1_Splice_Site_p.Q48_splice|MCF2_ENST00000370578.4_Splice_Site_p.Q133_splice|MCF2_ENST00000519895.1_Splice_Site_p.Q48_splice	p.Q48_splice			P10911	MCF2_HUMAN			4	427	-	Acute lymphoblastic leukemia(192;0.000127)		0			CRAL-TRIO.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Splice_Site	SNP	ENST00000370576.4	37	c.140_splice	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731937	0.96856	.	.	ENSG00000101977	ENST00000520602;ENST00000370578;ENST00000414978;ENST00000519895	.	.	.	5.54	4.66	0.58398	.	0.315629	0.30142	N	0.010301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	10.5492	0.45079	0.0:0.0:0.6499:0.35	.	.	.	.	X	48;133;48;48	.	ENSP00000359610:Q133X	Q	-	1	0	MCF2	138555482	1.000000	0.71417	0.995000	0.50966	0.543000	0.35085	1.396000	0.34531	1.084000	0.41184	0.594000	0.82650	CAA		0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		20	79	0	0	0	1	0	20	79				
ARCN1	372	broad.mit.edu	37	11	118454554	118454554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118454554C>T	ENST00000264028.4	+	4	573	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.R201C|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	160					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTGAGATGCGTCGTAAAGC	0.443																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(601-603)Cgt>Tgt		archain 1							120.0	106.0	111.0					11																	118454554		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118454554C>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.478C>T	11.37:g.118454554C>T	ENSP00000264028:p.Arg160Cys					ARCN1_ENST00000264028.4_Missense_Mutation_p.R160C|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C	p.R201C			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	5	766	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	160					B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.601C>T	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020500	0.75275	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000542521;ENST00000264028	T;T;T	0.33216	1.43;1.42;1.43	6.01	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.989	P;P;P	0.58266	0.548;0.836;0.517	T	0.57075	-0.7873	10	0.87932	D	0	-12.0251	16.3526	0.83220	0.3535:0.6465:0.0:0.0	.	72;201;160	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	C	72;201;160;160	ENSP00000376599:R72C;ENSP00000352385:R201C;ENSP00000264028:R160C	ENSP00000264028:R160C	R	+	1	0	ARCN1	117959764	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.781000	0.38644	0.846000	0.35142	-0.175000	0.13238	CGT		0.443	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			38	406	0	0	0	1	0	38	406				
BPIFA1	51297	broad.mit.edu	37	20	31825910	31825910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31825910C>A	ENST00000354297.4	+	3	281	c.210C>A	c.(208-210)aaC>aaA	p.N70K	BPIFA1_ENST00000375413.4_Missense_Mutation_p.N70K|BPIFA1_ENST00000375422.2_Missense_Mutation_p.N70K	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	70					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TTCTGGAAAACCTTCCGCTCC	0.562																																						ENST00000354297.4																			0											c.(208-210)aaC>aaA		BPI fold containing family A, member 1							64.0	63.0	63.0					20																	31825910		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825910C>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.210C>A	20.37:g.31825910C>A	ENSP00000346251:p.Asn70Lys					BPIFA1_ENST00000375413.4_Missense_Mutation_p.N70K|BPIFA1_ENST00000375422.2_Missense_Mutation_p.N70K	p.N70K	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			3	281	+			70					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.210C>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	1.763	-0.486228	0.04352	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.04917	3.53;3.53;3.53	5.43	0.147	0.14838	.	0.239859	0.37178	N	0.002212	T	0.09158	0.0226	L	0.43757	1.38	0.09310	N	1	D	0.58620	0.983	P	0.55713	0.782	T	0.28522	-1.0041	10	0.19590	T	0.45	-3.8418	7.8487	0.29442	0.0:0.5526:0.0:0.4474	.	70	Q9NP55	BPIA1_HUMAN	K	70;70;70;56	ENSP00000364571:N70K;ENSP00000346251:N70K;ENSP00000364562:N70K	ENSP00000346251:N70K	N	+	3	2	BPIFA1	31289571	0.049000	0.20398	0.012000	0.15200	0.003000	0.03518	-0.606000	0.05654	0.126000	0.18424	-0.140000	0.14226	AAC		0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		61	258	1	0	1.95512e-22	1	2.21276e-22	61	258				
PCDHA12	56137	broad.mit.edu	37	5	140256686	140256686	+	Silent	SNP	G	G	A	rs375706181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140256686G>A	ENST00000398631.2	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGTGCCGCCTCTGGGCA	0.701																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1627-1629)ccG>ccA				G	,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	89.0	98.0	95.0		,,,1629,,,,,,,,,,,,1629	-4.8	0.3	5		95	1,8593	1.2+/-3.3	0,1,4296	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,,,,,,,,,,,,,,,	,,,543/942,,,,,,,,,,,,543/793	140256686	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	0							g.chr5:140256686G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1629G>A	5.37:g.140256686G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.P543P	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1629	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1629G>A	CCDS47285.1																																																																																				0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		209	866	0	0	0	1	0	209	866				
GAS6	2621	broad.mit.edu	37	13	114541118	114541118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114541118G>A	ENST00000327773.6	-	6	659	c.513C>T	c.(511-513)tgC>tgT	p.C171C	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.C117C|GAS6_ENST00000357389.3_Silent_p.C171C|GAS6_ENST00000450766.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	171	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCTTGTTGTGGCAGATCTGGA	0.622																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(511-513)tgC>tgT		growth arrest-specific 6							111.0	101.0	105.0					13																	114541118		2203	4299	6502	SO:0001819	synonymous_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114541118G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.513C>T	13.37:g.114541118G>A						GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.C117C|GAS6_ENST00000327773.6_Silent_p.C171C	p.C171C			Q14393	GAS6_HUMAN			6	665	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	171			EGF-like 2; calcium-binding (Potential).		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	c.513C>T	CCDS45072.1																																																																																				0.622	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		62	428	0	0	0	1	0	62	428				
MMP11	4320	broad.mit.edu	37	22	24123083	24123083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24123083C>T	ENST00000215743.3	+	5	706	c.654C>T	c.(652-654)ggC>ggT	p.G218G	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	218					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	ATGAATTTGGCCACGTGCTGG	0.612																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(652-654)ggC>ggT		matrix metallopeptidase 11 (stromelysin 3)							68.0	53.0	58.0					22																	24123083		2203	4300	6503	SO:0001819	synonymous_variant	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24123083C>T		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.654C>T	22.37:g.24123083C>T						MMP11_ENST00000477567.1_3'UTR	p.G218G	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			5	706	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	218					Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	37	c.654C>T	CCDS13816.1																																																																																				0.612	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		47	173	0	0	0	1	0	47	173				
GALNT15	117248	broad.mit.edu	37	3	16254087	16254087	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16254087T>G	ENST00000339732.5	+	6	1712	c.1209T>G	c.(1207-1209)tgT>tgG	p.C403W	GALNT15_ENST00000437509.1_Missense_Mutation_p.C403W	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	403	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCTGGCTCTGTGGTGGCTCTG	0.542																																						ENST00000339732.5																			0											c.(1207-1209)tgT>tgG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							67.0	55.0	59.0					3																	16254087		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16254087T>G	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1209T>G	3.37:g.16254087T>G	ENSP00000344260:p.Cys403Trp					GALNT15_ENST00000437509.1_Missense_Mutation_p.C403W	p.C403W	NM_054110.4	NP_473451.3					6	1712	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1209T>G	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.703630	0.30232	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.67171	-0.25;-0.25	5.14	-1.84	0.07809	.	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86044	0.1521	10	0.87932	D	0	.	13.1101	0.59268	0.0:0.3995:0.0:0.6005	.	403	Q8N3T1	GLTL2_HUMAN	W	403	ENSP00000344260:C403W;ENSP00000395873:C403W	ENSP00000344260:C403W	C	+	3	2	GALNTL2	16229091	0.947000	0.32204	0.776000	0.31678	0.225000	0.24961	-0.038000	0.12144	-1.032000	0.03304	-2.060000	0.00399	TGT		0.542	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		40	211	0	0	0	1	0	40	211				
OR2AK2	391191	broad.mit.edu	37	1	248129025	248129025	+	Missense_Mutation	SNP	G	G	A	rs573037925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248129025G>A	ENST00000366480.3	+	1	491	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTCTCCTTGGTTTTATGTCT	0.443																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(391-393)gGt>gAt		olfactory receptor, family 2, subfamily AK, member 2							395.0	351.0	366.0					1																	248129025		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129025G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.392G>A	1.37:g.248129025G>A	ENSP00000355436:p.Gly131Asp					OR2L13_ENST00000366478.2_Intron	p.G131D	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	491	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		131					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.392G>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.801589	0.50315	.	.	ENSG00000187080	ENST00000366480	T	0.01347	4.99	3.03	-2.6	0.06190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04543	0.0124	M	0.77616	2.38	0.09310	N	1	D	0.64830	0.994	P	0.58210	0.835	T	0.19095	-1.0316	9	0.87932	D	0	.	5.9086	0.19014	0.1081:0.6127:0.1617:0.1175	.	131	Q8NG84	O2AK2_HUMAN	D	131	ENSP00000355436:G131D	ENSP00000355436:G131D	G	+	2	0	OR2AK2	246195648	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.134000	0.10436	-0.202000	0.10268	0.455000	0.32223	GGT		0.443	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		346	1083	0	0	0	1	0	346	1083				
HERC2	8924	broad.mit.edu	37	15	28358303	28358303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358303G>A	ENST00000261609.7	-	92	14254	c.14146C>T	c.(14146-14148)Cgc>Tgc	p.R4716C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAAGAGAGCGCTCTGTGTTG	0.607																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(14146-14148)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							70.0	64.0	66.0					15																	28358303		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28358303G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14146C>T	15.37:g.28358303G>A	ENSP00000261609:p.Arg4716Cys						p.R4716C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	92	14254	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4716			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.14146C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574110	0.86542	.	.	ENSG00000128731	ENST00000261609	T	0.54071	0.59	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.964;0.987	D	0.86189	0.1611	10	0.87932	D	0	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	4716;405	O95714;Q8ND39	HERC2_HUMAN;.	C	4716	ENSP00000261609:R4716C	ENSP00000261609:R4716C	R	-	1	0	HERC2	26031898	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.274000	0.58921	2.331000	0.79229	0.561000	0.74099	CGC		0.607	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		68	258	0	0	0	1	0	68	258				
ZDHHC2	51201	broad.mit.edu	37	8	17055101	17055101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055101C>A	ENST00000262096.8	+	5	1079	c.384C>A	c.(382-384)taC>taA	p.Y128*		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	128					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CCATCCGATACTGTGACAGAT	0.368																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(382-384)taC>taA		zinc finger, DHHC-type containing 2							146.0	143.0	144.0					8																	17055101		1913	4141	6054	SO:0001587	stop_gained	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17055101C>A	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.384C>A	8.37:g.17055101C>A	ENSP00000262096:p.Tyr128*						p.Y128*	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	5	1079	+			128					D3DSP5	Nonsense_Mutation	SNP	ENST00000262096.8	37	c.384C>A	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685509	0.68157	.	.	ENSG00000104219	ENST00000262096;ENST00000522184	.	.	.	4.3	-3.91	0.04168	.	0.278379	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7717	0.69684	0.0:0.7656:0.0:0.2344	.	.	.	.	X	128;83	.	ENSP00000262096:Y128X	Y	+	3	2	ZDHHC2	17099472	0.978000	0.34361	0.966000	0.40874	0.907000	0.53573	0.176000	0.16782	-0.577000	0.05967	-0.691000	0.03719	TAC		0.368	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		116	496	1	0	4.89831e-52	1	6.08832e-52	116	496				
HSD17B2	3294	broad.mit.edu	37	16	82131894	82131894	+	Silent	SNP	G	G	A	rs372570633		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82131894G>A	ENST00000199936.4	+	5	1210	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	339					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CCTATTACACGCCAGGGAAAG	0.483																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(1015-1017)acG>acA		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)	G		0,4402		0,0,2201	163.0	142.0	149.0		1017	-11.1	0.0	16		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HSD17B2	NM_002153.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		339/388	82131894	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131894G>A		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1017G>A	16.37:g.82131894G>A						RP11-510J16.5_ENST00000567021.1_RNA	p.T339T	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1210	+			339					B2R7T4	Silent	SNP	ENST00000199936.4	37	c.1017G>A	CCDS10936.1																																																																																				0.483	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		98	483	0	0	0	1	0	98	483				
SHROOM2	357	broad.mit.edu	37	X	9905433	9905433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9905433C>T	ENST00000380913.3	+	7	3937	c.3847C>T	c.(3847-3849)Ccc>Tcc	p.P1283S	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1283					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGCCCCAGCCCCTGGGCAC	0.642																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3847-3849)Ccc>Tcc		shroom family member 2							18.0	18.0	18.0					X																	9905433		2197	4297	6494	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9905433C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3847C>T	X.37:g.9905433C>T	ENSP00000370299:p.Pro1283Ser					SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	p.P1283S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			7	3937	+		Hepatocellular(5;0.000888)	1283					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3847C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	3.144	-0.175695	0.06421	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.43688	2.51;1.53;0.94	4.98	2.05	0.26809	.	1.337090	0.04799	N	0.433171	T	0.49830	0.1580	L	0.40543	1.245	0.09310	N	1	B;D	0.76494	0.004;0.999	B;D	0.63381	0.007;0.914	T	0.34329	-0.9833	10	0.22109	T	0.4	-4.5046	6.3194	0.21208	0.0:0.5636:0.2776:0.1588	.	118;1283	Q68DU3;Q13796	.;SHRM2_HUMAN	S	1283;118;118;118	ENSP00000370299:P1283S;ENSP00000415229:P118S;ENSP00000406724:P118S	ENSP00000370299:P1283S	P	+	1	0	SHROOM2	9865433	0.021000	0.18746	0.026000	0.17262	0.052000	0.14988	0.471000	0.22100	0.343000	0.23821	0.594000	0.82650	CCC		0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		37	101	0	0	0	1	0	37	101				
TRHDE	29953	broad.mit.edu	37	12	73014970	73014970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:73014970C>T	ENST00000261180.4	+	14	2513	c.2417C>T	c.(2416-2418)gCa>gTa	p.A806V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	806					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTTGTTCAAGCATCCTACCAA	0.343																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2416-2418)gCa>gTa		thyrotropin-releasing hormone degrading enzyme							117.0	105.0	109.0					12																	73014970		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73014970C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2417C>T	12.37:g.73014970C>T	ENSP00000261180:p.Ala806Val						p.A806V	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			14	2513	+			806					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2417C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386387	0.61956	.	.	ENSG00000072657	ENST00000261180	T	0.05319	3.46	5.64	5.64	0.86602	.	0.360841	0.29145	N	0.013013	T	0.05686	0.0149	N	0.11201	0.11	0.51482	D	0.999924	P	0.38300	0.626	B	0.37550	0.253	T	0.51076	-0.8751	10	0.44086	T	0.13	.	20.0769	0.97748	0.0:1.0:0.0:0.0	.	806	Q9UKU6	TRHDE_HUMAN	V	806	ENSP00000261180:A806V	ENSP00000261180:A806V	A	+	2	0	TRHDE	71301237	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.220000	0.72237	2.820000	0.97059	0.650000	0.86243	GCA		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		7	309	0	0	0	1	0	7	309				
HFM1	164045	broad.mit.edu	37	1	91781522	91781522	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91781522C>A	ENST00000370425.3	-	28	3088	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	HFM1_ENST00000370424.3_Missense_Mutation_p.R676I|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.R229I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	997	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCACTATATCTTGTAATCTT	0.303																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2989-2991)aGa>aTa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							38.0	39.0	39.0					1																	91781522		2199	4297	6496	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781522C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2990G>T	1.37:g.91781522C>A	ENSP00000359454:p.Arg997Ile					HFM1_ENST00000294696.5_Missense_Mutation_p.R229I|HFM1_ENST00000370424.3_Missense_Mutation_p.R676I|HFM1_ENST00000462405.1_5'UTR	p.R997I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	28	3088	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	997			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2990G>T	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.848|8.848	0.943933|0.943933	0.18281|0.18281	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.57273	.|0.41;0.41;0.41	5.25|5.25	3.37|3.37	0.38596|0.38596	.|Sec63 domain (2);	.|0.267631	.|0.35096	.|N	.|0.003455	T|T	0.50205|0.50205	0.1602|0.1602	L|L	0.56769|0.56769	1.78|1.78	0.53688|0.53688	D|D	0.999972|0.999972	.|P;D;D	.|0.63880	.|0.943;0.99;0.993	.|B;D;P	.|0.64595	.|0.445;0.927;0.854	T|T	0.56177|0.56177	-0.8022|-0.8022	5|10	.|0.66056	.|D	.|0.02	.|.	5.2022|5.2022	0.15271|0.15271	0.0:0.5967:0.0:0.4033|0.0:0.5967:0.0:0.4033	.|.	.|676;208;997	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	Y|I	209|997;229;676;681	.|ENSP00000359454:R997I;ENSP00000294696:R229I;ENSP00000359453:R676I	.|ENSP00000294696:R229I	D|R	-|-	1|2	0|0	HFM1|HFM1	91554110|91554110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	2.689000|2.689000	0.46993|0.46993	1.226000|1.226000	0.43582|0.43582	-0.384000|-0.384000	0.06662|0.06662	GAT|AGA		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		14	59	1	0	1.05317e-09	1	1.11087e-09	14	59				
PRKD1	5587	broad.mit.edu	37	14	30107919	30107919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107919C>T	ENST00000331968.5	-	5	1117	c.888G>A	c.(886-888)agG>agA	p.R296R	PRKD1_ENST00000415220.2_Silent_p.R304R|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	296					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCAAGCCCTGCCTGAAAAGCC	0.458																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(886-888)agG>agA		protein kinase D1							59.0	54.0	56.0					14																	30107919		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30107919C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.888G>A	14.37:g.30107919C>T						PRKD1_ENST00000415220.2_Silent_p.R304R|PRKD1_ENST00000551644.1_5'UTR	p.R296R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	5	1117	-	Hepatocellular(127;0.0604)		296					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.888G>A	CCDS9637.1																																																																																				0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		8	193	0	0	0	1	0	8	193				
RIMKLB	57494	broad.mit.edu	37	12	8926329	8926329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926329G>A	ENST00000538135.1	+	6	1935	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000357529.3_Silent_p.L370L			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	370					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGGGGCCTGTTCAACATGA	0.493																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1108-1110)ctG>ctA		ribosomal modification protein rimK-like family member B							79.0	78.0	79.0					12																	8926329		1892	4109	6001	SO:0001819	synonymous_variant	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926329G>A	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1110G>A	12.37:g.8926329G>A						RIMKLB_ENST00000538135.1_Silent_p.L370L|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000299673.5_Intron	p.L370L	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			7	2372	+			370					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	c.1110G>A	CCDS41748.1																																																																																				0.493	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		124	529	0	0	0	1	0	124	529				
GPR4	2828	broad.mit.edu	37	19	46095003	46095003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46095003G>A	ENST00000323040.4	-	2	1066	c.122C>T	c.(121-123)gCg>gTg	p.A41V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	41					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCGGTAGGCCGCCCACAGAGC	0.647																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(121-123)gCg>gTg		G protein-coupled receptor 4							64.0	52.0	56.0					19																	46095003		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46095003G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.122C>T	19.37:g.46095003G>A	ENSP00000319744:p.Ala41Val					OPA3_ENST00000544371.1_Intron	p.A41V	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1066	-			41					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.122C>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877137	0.33162	.	.	ENSG00000177464	ENST00000323040	T	0.33216	1.42	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.24353	0.0590	N	0.03999	-0.3	0.42852	D	0.994087	D	0.71674	0.998	P	0.58520	0.84	T	0.05022	-1.0911	10	0.02654	T	1	.	16.0194	0.80472	0.0:0.0:1.0:0.0	.	41	P46093	GPR4_HUMAN	V	41	ENSP00000319744:A41V	ENSP00000319744:A41V	A	-	2	0	GPR4	50786843	0.994000	0.37717	0.993000	0.49108	0.985000	0.73830	2.116000	0.41930	2.365000	0.80145	0.313000	0.20887	GCG		0.647	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		78	366	0	0	0	1	0	78	366				
MED15	51586	broad.mit.edu	37	22	20937634	20937634	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20937634A>C	ENST00000263205.7	+	13	1759	c.1690A>C	c.(1690-1692)Agt>Cgt	p.S564R	MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000406969.1_Missense_Mutation_p.S498R|MED15_ENST00000292733.7_Missense_Mutation_p.S524R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R|MED15_ENST00000542773.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	564					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAAGGACCTGAGTAAGATGAA	0.592																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1690-1692)Agt>Cgt		mediator complex subunit 15							112.0	118.0	116.0					22																	20937634		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937634A>C	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1690A>C	22.37:g.20937634A>C	ENSP00000263205:p.Ser564Arg					MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.S498R|MED15_ENST00000292733.7_Missense_Mutation_p.S524R	p.S564R	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		13	1759	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	564					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1690A>C	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871776	0.91587	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.7	5.7	0.88788	Mediator complex, subunit Med15, metazoa (1);	0.121832	0.85682	N	0.000000	T	0.77805	0.4185	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.996;0.951;0.994;0.989;0.999	T	0.80374	-0.1409	9	0.87932	D	0	.	13.922	0.63937	1.0:0.0:0.0:0.0	.	494;543;180;498;524;564	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	R	413;524;564;498;453;498;494	.	ENSP00000263205:S564R	S	+	1	0	MED15	19267634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.883000	0.92426	2.189000	0.69895	0.459000	0.35465	AGT		0.592	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		31	735	0	0	0	1	0	31	735				
WIPI1	55062	broad.mit.edu	37	17	66425048	66425048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66425048G>A	ENST00000262139.5	-	10	994	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	332					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGGATGACGCAACTAGCAG	0.458																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(994-996)gCg>gTg		WD repeat domain, phosphoinositide interacting 1							93.0	75.0	81.0					17																	66425048		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66425048G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.995C>T	17.37:g.66425048G>A	ENSP00000262139:p.Ala332Val					WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V	p.A332V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			10	994	-			332					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.995C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690742	0.48097	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.54279	0.58;2.17	5.33	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.217883	0.48286	D	0.000186	T	0.36880	0.0983	L	0.31157	0.91	0.23180	N	0.998168	B	0.26147	0.143	B	0.27608	0.081	T	0.16928	-1.0386	10	0.12430	T	0.62	-10.6268	11.958	0.52993	0.1781:0.0:0.8219:0.0	.	332	Q5MNZ9	WIPI1_HUMAN	V	332;250	ENSP00000262139:A332V;ENSP00000437345:A250V	ENSP00000262139:A332V	A	-	2	0	WIPI1	63936643	1.000000	0.71417	0.008000	0.14137	0.037000	0.13140	5.917000	0.69989	1.139000	0.42245	0.557000	0.71058	GCG		0.458	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		22	160	0	0	0	1	0	22	160				
MKRN3	7681	broad.mit.edu	37	15	23810940	23810940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23810940C>A	ENST00000314520.3	+	1	487	c.11C>A	c.(10-12)cCt>cAt	p.P4H	MKRN3_ENST00000564592.1_Missense_Mutation_p.P4H|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Missense_Mutation_p.P4H	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	4					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATGGAAGAGCCTGCAGCTCCC	0.647																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(10-12)cCt>cAt		makorin ring finger protein 3							14.0	20.0	18.0					15																	23810940		2194	4294	6488	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23810940C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.11C>A	15.37:g.23810940C>A	ENSP00000313881:p.Pro4His					MKRN3_ENST00000564592.1_Missense_Mutation_p.P4H|MKRN3_ENST00000568252.1_Missense_Mutation_p.P4H	p.P4H	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	487	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	4						Missense_Mutation	SNP	ENST00000314520.3	37	c.11C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	3.118	-0.181086	0.06380	.	.	ENSG00000179455	ENST00000314520	T	0.30981	1.51	3.36	2.45	0.29901	.	.	.	.	.	T	0.26702	0.0653	N	0.08118	0	0.22639	N	0.998905	D;D	0.71674	0.998;0.983	P;B	0.59012	0.85;0.431	T	0.07121	-1.0789	9	0.87932	D	0	.	6.6317	0.22861	0.0:0.8687:0.0:0.1313	.	4;4	Q6NSB6;Q13064	.;MKRN3_HUMAN	H	4	ENSP00000313881:P4H	ENSP00000313881:P4H	P	+	2	0	MKRN3	21362033	0.988000	0.35896	0.969000	0.41365	0.048000	0.14542	1.612000	0.36889	0.987000	0.38709	-0.253000	0.11424	CCT		0.647	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		12	67	1	0	6.40141e-05	1	6.5221e-05	12	67				
GLIPR1L1	256710	broad.mit.edu	37	12	75763911	75763911	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75763911C>T	ENST00000378695.4	+	6	774	c.684C>T	c.(682-684)gcC>gcT	p.A228A	GLIPR1L1_ENST00000548623.1_3'UTR|CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Silent_p.A219A			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	228					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AGCAGACAGCCTTTAATCCAT	0.313																																						ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(655-657)gcC>gcT		GLI pathogenesis-related 1 like 1							90.0	96.0	94.0					12																	75763911		2203	4300	6503	SO:0001819	synonymous_variant	256710					extracellular region		g.chr12:75763911C>T	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.684C>T	12.37:g.75763911C>T						GLIPR1L1_ENST00000548623.1_3'UTR|GLIPR1L1_ENST00000378695.4_Silent_p.A228A|CAPS2_ENST00000442339.2_Intron	p.A219A	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			5	703	+			228					Q96L06	Silent	SNP	ENST00000378695.4	37	c.657C>T																																																																																					0.313	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		47	224	0	0	0	1	0	47	224				
DHX34	9704	broad.mit.edu	37	19	47856540	47856540	+	Nonsense_Mutation	SNP	C	C	T	rs201215344		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47856540C>T	ENST00000328771.4	+	2	602	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	85					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGACCCTGGACAGCCCAAGCA	0.567																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(253-255)Cag>Tag		DEAH (Asp-Glu-Ala-His) box polypeptide 34							102.0	102.0	102.0					19																	47856540		2203	4300	6503	SO:0001587	stop_gained	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856540C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.253C>T	19.37:g.47856540C>T	ENSP00000331907:p.Gln85*						p.Q85*	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	602	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	85					B4DMY8	Nonsense_Mutation	SNP	ENST00000328771.4	37	c.253C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132073	0.77662	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	.	.	.	5.84	-1.84	0.07809	.	3.498840	0.00550	N	0.000252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-22.3369	2.2393	0.04016	0.1073:0.4364:0.2036:0.2527	.	.	.	.	X	85	.	ENSP00000257252:Q85X	Q	+	1	0	DHX34	52548380	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.206000	0.17375	-0.105000	0.12132	0.555000	0.69702	CAG		0.567	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		30	732	0	0	0	1	0	30	732				
FMN1	342184	broad.mit.edu	37	15	33260974	33260974	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33260974G>A	ENST00000559047.1	-	5	2927	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	FMN1_ENST00000561249.1_Silent_p.I878I|FMN1_ENST00000334528.9_Silent_p.I753I|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	976	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AACTGGGCTCGATGGCTGGTT	0.507																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2257-2259)atC>atT		formin 1							123.0	119.0	120.0					15																	33260974		1838	4090	5928	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33260974G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2928C>T	15.37:g.33260974G>A						FMN1_ENST00000559047.1_Silent_p.I976I|FMN1_ENST00000561249.1_Silent_p.I878I	p.I753I	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2258	-		all_lung(180;1.14e-07)	976			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.2259C>T																																																																																					0.507	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		98	540	0	0	0	1	0	98	540				
TUBA3E	112714	broad.mit.edu	37	2	130951729	130951729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951729C>T	ENST00000312988.7	-	4	786	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	229					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCAATCAGGCGATTGAGGTT	0.537																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(685-687)cGc>cAc		tubulin, alpha 3e							163.0	116.0	132.0					2																	130951729		2203	4298	6501	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951729C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.686G>A	2.37:g.130951729C>T	ENSP00000318197:p.Arg229His						p.R229H	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	786	-	Colorectal(110;0.1)		229						Missense_Mutation	SNP	ENST00000312988.7	37	c.686G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.852325	0.32699	.	.	ENSG00000152086	ENST00000312988	T	0.68331	-0.32	2.92	2.92	0.33932	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.48286	U	0.000197	T	0.66684	0.2814	L	0.31664	0.95	0.44668	D	0.997653	D	0.69078	0.997	P	0.59056	0.851	T	0.70846	-0.4761	10	0.87932	D	0	.	11.6717	0.51406	0.0:1.0:0.0:0.0	.	229	Q6PEY2	TBA3E_HUMAN	H	229	ENSP00000318197:R229H	ENSP00000318197:R229H	R	-	2	0	TUBA3E	130668199	0.884000	0.30299	0.597000	0.28824	0.135000	0.20990	3.087000	0.50167	1.664000	0.50801	0.449000	0.29647	CGC		0.537	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		27	741	0	0	0	1	0	27	741				
IRX3	79191	broad.mit.edu	37	16	54317630	54317630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54317630C>T	ENST00000329734.3	-	4	2186	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	492					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AAGACCAGGGCGGCGTCCAGA	0.423																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(1474-1476)Gcc>Acc		iroquois homeobox 3							55.0	54.0	55.0					16																	54317630		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54317630C>T	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1474G>A	16.37:g.54317630C>T	ENSP00000331608:p.Ala492Thr						p.A492T	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			4	2186	-			492					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.1474G>A	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107366	0.77096	.	.	ENSG00000177508	ENST00000329734	T	0.61742	0.08	5.14	5.14	0.70334	.	0.186035	0.32473	N	0.006042	T	0.66436	0.2789	L	0.39898	1.24	0.50171	D	0.999859	D	0.76494	0.999	D	0.75020	0.985	T	0.58148	-0.7687	10	0.10111	T	0.7	0.3728	18.9484	0.92630	0.0:1.0:0.0:0.0	.	492	P78415	IRX3_HUMAN	T	492	ENSP00000331608:A492T	ENSP00000331608:A492T	A	-	1	0	IRX3	52875131	1.000000	0.71417	0.693000	0.30195	0.879000	0.50718	6.855000	0.75445	2.554000	0.86153	0.561000	0.74099	GCC		0.423	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			6	144	0	0	0	1	0	6	144				
BRCA2	675	broad.mit.edu	37	13	32906448	32906448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32906448G>A	ENST00000380152.3	+	10	1066	c.833G>A	c.(832-834)aGc>aAc	p.S278N	BRCA2_ENST00000544455.1_Missense_Mutation_p.S278N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	278					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTAAATAGCTGCAAAGAC	0.289			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(832-834)aGc>aAc	Homologous recombination	breast cancer 2, early onset							51.0	53.0	52.0					13																	32906448		2203	4294	6497	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32906448G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.833G>A	13.37:g.32906448G>A	ENSP00000369497:p.Ser278Asn	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S278N	p.S278N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1060	+		Lung SC(185;0.0262)	278					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.833G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464933	0.26335	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00808	5.67;5.67	5.74	2.66	0.31614	.	0.448251	0.24745	N	0.035951	T	0.00845	0.0028	L	0.29908	0.895	0.09310	N	1	B;B	0.25719	0.132;0.007	B;B	0.20184	0.028;0.008	T	0.49021	-0.8982	10	0.44086	T	0.13	.	5.4333	0.16466	0.273:0.153:0.574:0.0	.	278;278	P51587;A1YBP1	BRCA2_HUMAN;.	N	278;278;276	ENSP00000369497:S278N;ENSP00000439902:S278N	ENSP00000369497:S278N	S	+	2	0	BRCA2	31804448	0.000000	0.05858	0.011000	0.14972	0.815000	0.46073	0.286000	0.18902	0.784000	0.33661	0.655000	0.94253	AGC		0.289	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		42	181	0	0	0	1	0	42	181				
GGT1	2678	broad.mit.edu	37	22	25007192	25007192	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25007192G>A	ENST00000400382.1	+	5	899	c.144G>A	c.(142-144)aaG>aaA	p.K48K	GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000400380.1_Silent_p.K48K|GGT1_ENST00000406383.2_Silent_p.K48K			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	48					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CGGATGCCAAGCAGTGCTCGA	0.607																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(142-144)aaG>aaA		gamma-glutamyltransferase 1	Glutathione(DB00143)						13.0	14.0	13.0					22																	25007192		2026	4175	6201	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25007192G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.144G>A	22.37:g.25007192G>A						GGT1_ENST00000400380.1_Silent_p.K48K|GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000406383.2_Silent_p.K48K	p.K48K			P19440	GGT1_HUMAN			5	899	+			48					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.144G>A	CCDS42992.1																																																																																				0.607	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		6	24	0	0	0	1	0	6	24				
EIF4G1	1981	broad.mit.edu	37	3	184045152	184045152	+	Missense_Mutation	SNP	C	C	T	rs369412977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184045152C>T	ENST00000346169.2	+	24	3848	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1194W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1193					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTGGAGGAGCGGAGTAGAGA	0.672																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3580-3582)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 1		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	38.0	42.0	40.0		3598,3598,2992,3580,3577,3085,3316	4.3	1.0	3		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1200/1607,1200/1607,998/1405,1194/1601,1193/1600,1029/1436,1106/1513	184045152	1,13005	2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045152C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3577C>T	3.37:g.184045152C>T	ENSP00000316879:p.Arg1193Trp					EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1193W	p.R1194W	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		23	3994	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1193					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3580C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444943	0.83993	0.0	1.16E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04603	3.81;3.8;3.72;3.8;3.62;3.8;3.72;3.79;3.81;3.8;3.8;3.61;3.59;3.59	5.2	4.33	0.51752	.	0.316936	0.33753	N	0.004598	T	0.11281	0.0275	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68765	0.96;0.96;0.96	T	0.02893	-1.1097	10	0.62326	D	0.03	-14.8784	8.8632	0.35269	0.1826:0.7382:0.0:0.0792	.	1200;1194;1193	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	1193;1153;1106;1200;1029;1200;1107;1194;1193;1200;1154;1030;998;997	ENSP00000316879:R1193W;ENSP00000391935:R1153W;ENSP00000376320:R1106W;ENSP00000371767:R1200W;ENSP00000317600:R1029W;ENSP00000338020:R1200W;ENSP00000407682:R1107W;ENSP00000343450:R1194W;ENSP00000323737:R1193W;ENSP00000416255:R1200W;ENSP00000395974:R1154W;ENSP00000399858:R1030W;ENSP00000411826:R998W;ENSP00000404754:R997W	ENSP00000323737:R1193W	R	+	1	2	EIF4G1	185527846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.386000	0.52492	1.422000	0.47177	0.655000	0.94253	CGG		0.672	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		59	284	0	0	0	1	0	59	284				
VIT	5212	broad.mit.edu	37	2	37035781	37035781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37035781G>T	ENST00000389975.3	+	14	1813	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	VIT_ENST00000404084.1_Missense_Mutation_p.S456I|VIT_ENST00000401530.1_Missense_Mutation_p.S483I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000379241.3_Missense_Mutation_p.S482I|VIT_ENST00000379242.3_Missense_Mutation_p.S519I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	504	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GACGGCTCCAGCAGTGTGGGG	0.612																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1555-1557)aGc>aTc		vitrin							66.0	64.0	65.0					2																	37035781		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035781G>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1511G>T	2.37:g.37035781G>T	ENSP00000374625:p.Ser504Ile					VIT_ENST00000404084.1_Missense_Mutation_p.S456I|VIT_ENST00000379241.3_Missense_Mutation_p.S482I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000389975.3_Missense_Mutation_p.S504I|VIT_ENST00000401530.1_Missense_Mutation_p.S483I	p.S519I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1858	+		all_hematologic(82;0.248)	504			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1556G>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916504	0.73098	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90202	0.4258	10	0.72032	D	0.01	-25.2816	18.9114	0.92487	0.0:0.0:1.0:0.0	.	483;482;504;519	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	519;504;173;456;482;483	ENSP00000368544:S519I;ENSP00000374625:S504I;ENSP00000417874:S173I;ENSP00000384154:S456I;ENSP00000368543:S482I;ENSP00000385658:S483I	ENSP00000368543:S482I	S	+	2	0	VIT	36889285	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.827000	0.99397	2.461000	0.83175	0.557000	0.71058	AGC		0.612	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				103	327	1	0	3.46703e-50	1	4.29469e-50	103	327				
GRM7	2917	broad.mit.edu	37	3	7620618	7620618	+	Silent	SNP	G	G	A	rs267599934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620618G>A	ENST00000357716.4	+	8	2299	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Silent_p.T675T|GRM7_ENST00000402647.2_Silent_p.T675T|GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000389336.4_Silent_p.T675T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					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						CCCTCTTGACGAAAACAAATC	0.458																																						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.(2023-2025)acG>acA		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)	G	,	0,4406		0,0,2203	100.0	90.0	93.0		2025,2025	-12.3	0.7	3		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	675/916,675/923	7620618	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:7620618G>A	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.2025G>A	3.37:g.7620618G>A						GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000389336.4_Silent_p.T675T|GRM7_ENST00000357716.4_Silent_p.T675T|GRM7_ENST00000402647.2_Silent_p.T675T|GRM7_ENST00000458641.2_3'UTR	p.T675T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2299	+			675					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.2025G>A	CCDS43042.1																																																																																				0.458	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		36	314	0	0	0	1	0	36	314				
PLXNB3	5365	broad.mit.edu	37	X	153032615	153032615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032615G>T	ENST00000361971.5	+	3	447	c.333G>T	c.(331-333)caG>caT	p.Q111H	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q134H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	111	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAGGCCCAGCTCACTGACA	0.697																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(400-402)caG>caT		plexin B3							19.0	17.0	18.0					X																	153032615		2197	4290	6487	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032615G>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.333G>T	X.37:g.153032615G>T	ENSP00000355378:p.Gln111His					PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q111H|PLXNB3_ENST00000538543.1_Intron	p.Q134H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	673	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		111			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.402G>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735469	0.15574	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04551	3.6;3.6	4.79	2.82	0.32997	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.549822	0.15044	N	0.283720	T	0.04679	0.0127	L	0.43152	1.355	0.24397	N	0.994723	B;B	0.21688	0.059;0.01	B;B	0.25506	0.061;0.034	T	0.28364	-1.0046	10	0.42905	T	0.14	.	3.9563	0.09391	0.0968:0.1546:0.5881:0.1605	.	134;111	F5H773;Q9ULL4	.;PLXB3_HUMAN	H	134;111	ENSP00000442736:Q134H;ENSP00000355378:Q111H	ENSP00000355378:Q111H	Q	+	3	2	PLXNB3	152685809	0.018000	0.18449	0.989000	0.46669	0.140000	0.21249	0.918000	0.28678	1.961000	0.56991	0.468000	0.43344	CAG		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			31	79	1	0	7.26314e-15	1	7.90818e-15	31	79				
FAT4	79633	broad.mit.edu	37	4	126242553	126242553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242553G>A	ENST00000394329.3	+	1	5000	c.4987G>A	c.(4987-4989)Gtg>Atg	p.V1663M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1663	Cadherin 16. {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						TGAGGCCCCAGTGGAGTATTA	0.418																																						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.(4987-4989)Gtg>Atg		FAT atypical cadherin 4							84.0	85.0	85.0					4																	126242553		1846	4084	5930	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242553G>A	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.4987G>A	4.37:g.126242553G>A	ENSP00000377862:p.Val1663Met						p.V1663M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	5000	+			1663			Cadherin 16.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4987G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212870	0.58452	.	.	ENSG00000196159	ENST00000394329	T	0.43294	0.95	4.34	4.34	0.51931	Cadherin (3);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.62171	0.2406	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.68205	-0.5470	10	0.72032	D	0.01	.	17.0734	0.86580	0.0:0.0:1.0:0.0	.	1663	Q6V0I7	FAT4_HUMAN	M	1663	ENSP00000377862:V1663M	ENSP00000377862:V1663M	V	+	1	0	FAT4	126462003	1.000000	0.71417	0.892000	0.35008	0.406000	0.30931	9.392000	0.97252	2.263000	0.75096	0.650000	0.86243	GTG		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		118	501	0	0	0	1	0	118	501				
MCM8	84515	broad.mit.edu	37	20	5933149	5933149	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5933149A>C	ENST00000378896.3	+	3	605	c.228A>C	c.(226-228)aaA>aaC	p.K76N	MCM8_ENST00000378883.1_Missense_Mutation_p.K76N|TRMT6_ENST00000453074.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N|TRMT6_ENST00000203001.2_5'Flank|MCM8_ENST00000378886.2_Missense_Mutation_p.K76N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	76					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TACCATATAAAGGCTGGAAGC	0.338																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(226-228)aaA>aaC		minichromosome maintenance complex component 8							93.0	105.0	101.0					20																	5933149		2203	4299	6502	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5933149A>C	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.228A>C	20.37:g.5933149A>C	ENSP00000368174:p.Lys76Asn					MCM8_ENST00000378886.2_Missense_Mutation_p.K76N|MCM8_ENST00000378883.1_Missense_Mutation_p.K76N|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N	p.K76N	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			3	605	+			76					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.228A>C	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914769	0.72983	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	6.07	2.69	0.31865	.	0.098121	0.64402	D	0.000002	T	0.35653	0.0939	M	0.75447	2.3	0.58432	D	0.999995	P;P;B;B	0.41597	0.677;0.756;0.338;0.251	B;B;B;B	0.38106	0.265;0.209;0.224;0.136	T	0.17930	-1.0353	10	0.52906	T	0.07	-16.8494	8.8479	0.35181	0.7028:0.0:0.2972:0.0	.	76;76;76;76	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	N	76	ENSP00000368174:K76N;ENSP00000368161:K76N;ENSP00000368164:K76N;ENSP00000265187:K76N	ENSP00000265187:K76N	K	+	3	2	MCM8	5881149	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.842000	0.48230	0.554000	0.29061	-0.250000	0.11733	AAA		0.338	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		149	653	0	0	0	1	0	149	653				
TMEM91	641649	broad.mit.edu	37	19	41884213	41884213	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41884213C>T	ENST00000392002.2	+	0	659				TMEM91_ENST00000604123.1_Missense_Mutation_p.A57V|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_5'Flank|TMEM91_ENST00000539627.1_5'UTR|TMEM91_ENST00000447302.2_5'UTR|TMEM91_ENST00000413014.2_5'UTR|TMEM91_ENST00000544232.1_5'UTR|TMEM91_ENST00000356385.4_5'UTR|TMEM91_ENST00000436170.2_5'UTR|TMEM91_ENST00000542945.1_5'UTR|CTC-435M10.3_ENST00000540732.1_5'UTR	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91						hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TTCCCCAAAGCCATGGACAGC	0.547																																						ENST00000604123.1																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(169-171)gCc>gTc		transmembrane protein 91							64.0	63.0	63.0					19																	41884213		1871	4107	5978	SO:0001623	5_prime_UTR_variant	641649							g.chr19:41884213C>T	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.-2C>T	19.37:g.41884213C>T						TMEM91_ENST00000542945.1_5'UTR|TMEM91_ENST00000436170.2_5'UTR|TMEM91_ENST00000539627.1_5'UTR|TMEM91_ENST00000356385.4_5'UTR|CTC-435M10.3_ENST00000540732.1_5'UTR|TMEM91_ENST00000392002.2_5'UTR|TMEM91_ENST00000544232.1_5'UTR|TMEM91_ENST00000447302.2_5'UTR|TMEM91_ENST00000413014.2_5'UTR	p.A57V							2	175	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.170C>T	CCDS42571.1																																																																																				0.547	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			73	420	0	0	0	1	0	73	420				
CPQ	10404	broad.mit.edu	37	8	97978249	97978249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97978249A>G	ENST00000220763.5	+	5	1146	c.936A>G	c.(934-936)gaA>gaG	p.E312E		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	312					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TATCATGGGAAGCACTCTCAC	0.393																																						ENST00000220763.5																			0											c.(934-936)gaA>gaG		carboxypeptidase Q							94.0	92.0	92.0					8																	97978249		2203	4300	6503	SO:0001819	synonymous_variant	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97978249A>G	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.936A>G	8.37:g.97978249A>G							p.E312E	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			5	1146	+			312					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	c.936A>G	CCDS6273.1																																																																																				0.393	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		5	183	0	0	0	1	0	5	183				
MYCBP2	23077	broad.mit.edu	37	13	77635368	77635368	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77635368G>T	ENST00000544440.2	-	76	12875	c.12858C>A	c.(12856-12858)ttC>ttA	p.F4286L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.F4324L					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)		CCATCAACCAGAACAATTTGG	0.368																																						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.(12970-12972)ttC>ttA		MYC binding protein 2, E3 ubiquitin protein ligase							143.0	122.0	129.0					13																	77635368		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77635368G>T	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.12858C>A	13.37:g.77635368G>T	ENSP00000444596:p.Phe4286Leu					MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.F4286L	p.F4324L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	76	13238	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4286						Missense_Mutation	SNP	ENST00000544440.2	37	c.12972C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.461572|3.461572	0.63513|0.63513	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.29397|.	1.57;1.57;1.57|.	6.17|6.17	4.44|4.44	0.53790|0.53790	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.52573|0.52573	1.65|1.65	0.58432|0.58432	D|D	0.999994|0.999994	P|.	0.49447|.	0.924|.	P|.	0.60682|.	0.878|.	T|T	0.54957|0.54957	-0.8215|-0.8215	10|5	0.87932|.	D|.	0|.	.|.	10.2374|10.2374	0.43290|0.43290	0.2053:0.0:0.7947:0.0|0.2053:0.0:0.7947:0.0	.|.	4286|.	O75592|.	MYCB2_HUMAN|.	L|M	4286;4324;4286|707	ENSP00000349892:F4286L;ENSP00000384288:F4324L;ENSP00000444596:F4286L|.	ENSP00000349892:F4286L|.	F|L	-|-	3|1	2|2	MYCBP2|MYCBP2	76533369|76533369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.666000|2.666000	0.46799|0.46799	0.923000|0.923000	0.37045|0.37045	0.655000|0.655000	0.94253|0.94253	TTC|CTG		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		51	297	1	0	1.00221e-16	1	1.10252e-16	51	297				
MTG1	92170	broad.mit.edu	37	10	135211958	135211958	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135211958A>C	ENST00000317502.6	+	4	352	c.302A>C	c.(301-303)gAa>gCa	p.E101A	RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.E106A|MTG1_ENST00000477902.2_Missense_Mutation_p.E60A	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	101	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CAACACTTAGAAGGAGAAGGC	0.408																																						ENST00000468317.2																			0											c.(316-318)gAa>gCa									109.0	107.0	108.0					10																	135211958		2203	4300	6503	SO:0001583	missense	0							g.chr10:135211958A>C		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.302A>C	10.37:g.135211958A>C	ENSP00000323047:p.Glu101Ala					MTG1_ENST00000317502.6_Missense_Mutation_p.E101A|MTG1_ENST00000477902.2_Missense_Mutation_p.E60A	p.E106A							5	572	+								Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.317A>C	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	a	11.36	1.614812	0.28712	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.14144	2.53;2.53;2.53	4.91	3.75	0.43078	.	2.760420	0.01439	N	0.015030	T	0.15478	0.0373	L	0.35249	1.045	0.20703	N	0.999862	B;B	0.22604	0.072;0.04	B;B	0.26614	0.071;0.015	T	0.34378	-0.9831	10	0.34782	T	0.22	-10.5334	9.9324	0.41530	0.8282:0.1718:0.0:0.0	.	101;101	E7EVK2;Q9BT17	.;MTG1_HUMAN	A	106;101;101;60	ENSP00000436767:E106A;ENSP00000323047:E101A;ENSP00000393480:E101A	ENSP00000323047:E101A	E	+	2	0	AL360181.1;MTG1	135061948	1.000000	0.71417	0.907000	0.35723	0.892000	0.51952	3.316000	0.51960	0.699000	0.31761	0.445000	0.29226	GAA		0.408	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		99	417	0	0	0	1	0	99	417				
SCFD2	152579	broad.mit.edu	37	4	54231417	54231417	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54231417C>T	ENST00000401642.3	-	1	825	c.692G>A	c.(691-693)gGa>gAa	p.G231E	SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	231					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCCGTACTCCTAAATGTTC	0.527																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(691-693)gGa>gAa		sec1 family domain containing 2							122.0	114.0	117.0					4																	54231417		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231417C>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.692G>A	4.37:g.54231417C>T	ENSP00000384182:p.Gly231Glu					SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	p.G231E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	825	-			231					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.692G>A	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732558	0.69189	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	D;D	0.83163	-1.69;-1.69	5.51	5.51	0.81932	.	0.050423	0.85682	D	0.000000	D	0.89298	0.6675	M	0.62723	1.935	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.976	D	0.86623	0.1880	10	0.30854	T	0.27	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	231;231	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	E	231	ENSP00000384182:G231E;ENSP00000373592:G231E	ENSP00000373592:G231E	G	-	2	0	SCFD2	53926174	0.428000	0.25522	0.953000	0.39169	0.317000	0.28152	1.947000	0.40293	2.873000	0.98535	0.561000	0.74099	GGA		0.527	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		93	388	0	0	0	1	0	93	388				
RETNLB	84666	broad.mit.edu	37	3	108474750	108474750	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474750T>C	ENST00000295755.6	-	3	409	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	71					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGACAGCCATCCCTGCATGA	0.547																																						ENST00000295755.6																			0				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(211-213)Atg>Gtg		resistin like beta							92.0	86.0	88.0					3																	108474750		2203	4300	6503	SO:0001583	missense	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108474750T>C	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.211A>G	3.37:g.108474750T>C	ENSP00000295755:p.Met71Val					RETNLB_ENST00000482939.1_Intron	p.M71V	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN			3	409	-			71					Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	c.211A>G	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	T	7.784	0.710092	0.15239	.	.	ENSG00000163515	ENST00000295755	T	0.41758	0.99	3.7	0.923	0.19413	.	1.356200	0.05180	N	0.501095	T	0.37598	0.1009	L	0.43923	1.385	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.40156	-0.9578	10	0.52906	T	0.07	-1.0885	7.1581	0.25649	0.3937:0.0:0.0:0.6063	.	71	Q9BQ08	RETNB_HUMAN	V	71	ENSP00000295755:M71V	ENSP00000295755:M71V	M	-	1	0	RETNLB	109957440	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	0.404000	0.20999	0.475000	0.27415	0.459000	0.35465	ATG		0.547	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			13	331	0	0	0	1	0	13	331				
WIPI2	26100	broad.mit.edu	37	7	5269261	5269261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5269261A>G	ENST00000288828.4	+	12	1376	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A	WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A|WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	382					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TCTGGAAACGACCAATGAGAT	0.592																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(1144-1146)Acc>Gcc		WD repeat domain, phosphoinositide interacting 2							101.0	66.0	78.0					7																	5269261		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5269261A>G		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1144A>G	7.37:g.5269261A>G	ENSP00000288828:p.Thr382Ala					WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A	p.T382A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	12	1376	+		Ovarian(82;0.0175)	382					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.1144A>G	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	A	1.403	-0.577680	0.03854	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.41400	1.31;1.31;1.33;1.33;1.0	5.77	1.33	0.21861	.	0.520851	0.21249	N	0.077680	T	0.15998	0.0385	N	0.04508	-0.205	0.21290	N	0.99974	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.28586	-1.0039	10	0.09843	T	0.71	-20.5692	7.0495	0.25065	0.5558:0.0:0.4442:0.0	.	376;364;364;382;382	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	A	382;364;382;364;323;376	ENSP00000288828:T382A;ENSP00000384945:T364A;ENSP00000385297:T382A;ENSP00000371821:T364A;ENSP00000429654:T323A	ENSP00000288828:T382A	T	+	1	0	WIPI2	5235787	0.921000	0.31238	0.110000	0.21437	0.095000	0.18619	1.468000	0.35332	-0.074000	0.12820	-0.232000	0.12228	ACC		0.592	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		21	97	0	0	0	1	0	21	97				
PTPRU	10076	broad.mit.edu	37	1	29610474	29610474	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29610474G>A	ENST00000345512.3	+	13	2294	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R722H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R722H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	722					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AATTGCATCCGCATTGCCAGG	0.627																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2164-2166)cGc>cAc		protein tyrosine phosphatase, receptor type, U							108.0	109.0	109.0					1																	29610474		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29610474G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2165G>A	1.37:g.29610474G>A	ENSP00000334941:p.Arg722His					PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R722H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R722H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H	p.R722H	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	13	2294	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	722					A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2165G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545457	0.96488	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.36878	1.23;1.34;1.34;1.34;1.28;1.34	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.998	T	0.65541	-0.6143	9	.	.	.	.	18.351	0.90338	0.0:0.0:1.0:0.0	.	722;722;722;722;722	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	722	ENSP00000334941:R722H;ENSP00000362884:R722H;ENSP00000349333:R722H;ENSP00000314987:R722H;ENSP00000392332:R722H;ENSP00000432906:R722H	.	R	+	2	0	PTPRU	29483061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.022000	0.93678	2.577000	0.86979	0.549000	0.68633	CGC		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			86	630	0	0	0	1	0	86	630				
DCAF4L2	138009	broad.mit.edu	37	8	88885789	88885789	+	Missense_Mutation	SNP	G	G	T	rs118036816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885789G>T	ENST00000319675.3	-	1	507	c.411C>A	c.(409-411)caC>caA	p.H137Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	137										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGAATCCAAGTGATTCAGTG	0.562																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(409-411)caC>caA		DDB1 and CUL4 associated factor 4-like 2							104.0	98.0	100.0					8																	88885789		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885789G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.411C>A	8.37:g.88885789G>T	ENSP00000316496:p.His137Gln						p.H137Q	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	507	-			137						Missense_Mutation	SNP	ENST00000319675.3	37	c.411C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590654	0.13812	.	.	ENSG00000176566	ENST00000319675	T	0.69306	-0.39	1.39	-2.28	0.06826	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.154096	0.64402	D	0.000012	T	0.46814	0.1412	L	0.39397	1.21	0.33377	D	0.574384	B	0.20671	0.047	B	0.18561	0.022	T	0.34502	-0.9826	10	0.17832	T	0.49	.	6.4598	0.21950	0.4841:0.0:0.5159:0.0	.	137	Q8NA75	DC4L2_HUMAN	Q	137	ENSP00000316496:H137Q	ENSP00000316496:H137Q	H	-	3	2	DCAF4L2	88954905	1.000000	0.71417	0.021000	0.16686	0.090000	0.18270	1.251000	0.32862	-0.661000	0.05345	-0.444000	0.05651	CAC		0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		79	397	1	0	9.35569e-46	1	1.14784e-45	79	397				
C20orf196	149840	broad.mit.edu	37	20	5844104	5844104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5844104C>A	ENST00000303142.6	+	3	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	205										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AATGAAAGACCTGTAACTGGT	0.512																																						ENST00000303142.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(613-615)Ctg>Atg		chromosome 20 open reading frame 196							71.0	70.0	70.0					20																	5844104		2201	4298	6499	SO:0001583	missense	149840							g.chr20:5844104C>A	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.613C>A	20.37:g.5844104C>A	ENSP00000305875:p.Leu205Met						p.L205M	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN			3	700	+			205					A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	c.613C>A	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606421	0.28623	.	.	ENSG00000171984	ENST00000303142;ENST00000378971	T	0.51325	0.71	5.54	1.21	0.21127	.	1.162880	0.06175	N	0.678450	T	0.29190	0.0726	N	0.19112	0.55	0.09310	N	1	P	0.38711	0.643	B	0.34301	0.179	T	0.31447	-0.9943	10	0.87932	D	0	-11.1558	3.344	0.07128	0.1662:0.4178:0.3232:0.0928	.	205	Q8IYI0	CT196_HUMAN	M	205;151	ENSP00000305875:L205M	ENSP00000305875:L205M	L	+	1	2	C20orf196	5792104	0.000000	0.05858	0.447000	0.26932	0.171000	0.22731	-0.269000	0.08596	0.828000	0.34709	0.655000	0.94253	CTG		0.512	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		76	336	1	0	1.7488e-33	1	2.07287e-33	76	336				
MDM2	4193	broad.mit.edu	37	12	69222680	69222680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69222680G>T	ENST00000350057.5	+	6	560	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MDM2_ENST00000393412.3_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.S218I|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000299252.4_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	212	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGAAGCAGTAGCAGTGAATCT	0.418			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(652-654)aGc>aTc		MDM2 oncogene, E3 ubiquitin protein ligase							185.0	173.0	177.0					12																	69222680		1920	4128	6048	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69222680G>T		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.560G>T	12.37:g.69222680G>T	ENSP00000266624:p.Ser187Ile					MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.S187I|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000299252.4_Intron	p.S218I	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		8	955	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		212			ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.653G>T		.	.	.	.	.	.	.	.	.	.	G	15.30	2.792010	0.50102	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.53857	1.27;0.68;0.68;0.6;1.28	4.74	3.85	0.44370	SWIB/MDM2 domain (1);	0.078405	0.85682	D	0.000000	T	0.65270	0.2675	M	0.61703	1.905	0.80722	D	1	P;P;P;D	0.55800	0.953;0.808;0.953;0.973	P;B;P;P	0.61533	0.89;0.261;0.89;0.89	T	0.65869	-0.6063	9	.	.	.	-0.0638	13.6451	0.62277	0.0763:0.0:0.9237:0.0	.	167;212;163;218	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	I	218;167;157;212;173;163;212;212;187	ENSP00000417281:S218I;ENSP00000258149:S157I;ENSP00000258148:S163I;ENSP00000444430:S212I;ENSP00000266624:S187I	.	S	+	2	0	MDM2	67508947	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	5.027000	0.64109	1.330000	0.45394	-0.373000	0.07131	AGC		0.418	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		60	608	1	0	1.77267e-40	1	2.14974e-40	60	608				
CHPF2	54480	broad.mit.edu	37	7	150931242	150931242	+	Nonsense_Mutation	SNP	C	C	T	rs200404526		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150931242C>T	ENST00000035307.2	+	1	1658	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CHPF2_ENST00000495645.1_Nonsense_Mutation_p.R41*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	49					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTAGGGGAGCGAGGAGGGCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17792	0.0		0.001	False		,,,				2504	0.0					ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(145-147)Cga>Tga		chondroitin polymerizing factor 2							74.0	77.0	76.0					7																	150931242		2203	4300	6503	SO:0001587	stop_gained	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150931242C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.145C>T	7.37:g.150931242C>T	ENSP00000035307:p.Arg49*					CHPF2_ENST00000495645.1_Nonsense_Mutation_p.R41*	p.R49*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			1	1658	+			49					B2DBD8|Q6P2I4|Q6UXD2	Nonsense_Mutation	SNP	ENST00000035307.2	37	c.145C>T	CCDS34779.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	32	5.173336	0.94807	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	.	.	.	5.25	4.36	0.52297	.	0.719501	0.13914	N	0.354060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.3935	12.9403	0.58340	0.0:0.837:0.163:0.0	.	.	.	.	X	41;49;49	.	ENSP00000035307:R49X	R	+	1	2	CHPF2	150562175	0.758000	0.28405	0.936000	0.37596	0.359000	0.29487	3.251000	0.51453	1.200000	0.43188	0.462000	0.41574	CGA		0.592	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		31	393	0	0	0	1	0	31	393				
PADI1	29943	broad.mit.edu	37	1	17570600	17570600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17570600C>T	ENST00000375471.4	+	16	1946	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	PADI1_ENST00000536552.1_Silent_p.S89S|PADI1_ENST00000413717.2_Silent_p.S133S|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000537499.1_Silent_p.S175S	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	618					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGTGCAGTCCCTGCTGGAGC	0.592																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1852-1854)tcC>tcT		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						89.0	81.0	84.0					1																	17570600		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17570600C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1854C>T	1.37:g.17570600C>T						PADI1_ENST00000536552.1_Silent_p.S89S|PADI1_ENST00000537499.1_Silent_p.S175S|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.S133S	p.S618S	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	16	1946	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	618					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.1854C>T	CCDS178.1																																																																																				0.592	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		35	251	0	0	0	1	0	35	251				
ZSCAN10	84891	broad.mit.edu	37	16	3142764	3142764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3142764G>A	ENST00000252463.2	-	1	97	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	4	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGGACGCCCGTGGCCCCATG	0.657																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(10-12)Cgg>Tgg		zinc finger and SCAN domain containing 10							10.0	12.0	12.0					16																	3142764		2192	4289	6481	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3142764G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.10C>T	16.37:g.3142764G>A	ENSP00000252463:p.Arg4Trp					ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M	p.R4W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			1	97	-			4			SCAN box.		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.10C>T	CCDS10493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.741812|1.741812	0.30865|0.30865	.|.	.|.	ENSG00000130182|ENSG00000130182	ENST00000252463|ENST00000538082	T|.	0.05580|.	3.42|.	5.39|5.39	0.17|0.17	0.15021|0.15021	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);|.	0.145945|.	0.31279|.	N|.	0.007926|.	T|T	0.55465|0.55465	0.1922|0.1922	M|M	0.85859|0.85859	2.78|2.78	0.09310|0.09310	N|N	1|1	D|B	0.69078|0.28055	0.997|0.199	P|B	0.58077|0.25140	0.832|0.058	T|T	0.52815|0.52815	-0.8525|-0.8525	10|8	0.87932|0.42905	D|T	0|0.14	-39.5061|-39.5061	13.0515|13.0515	0.58958|0.58958	0.0:0.0:0.4185:0.5815|0.0:0.0:0.4185:0.5815	.|.	4|26	Q96SZ4|Q1WWM2	ZSC10_HUMAN|.	W|M	4|26	ENSP00000252463:R4W|.	ENSP00000252463:R4W|ENSP00000440047:T26M	R|T	-|-	1|2	2|0	ZSCAN10|ZSCAN10	3082765|3082765	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.116000|-0.116000	0.10724|0.10724	0.156000|0.156000	0.19299|0.19299	-0.277000|-0.277000	0.10078|0.10078	CGG|ACG		0.657	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		24	76	0	0	0	1	0	24	76				
LLGL2	3993	broad.mit.edu	37	17	73566151	73566151	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566151C>A	ENST00000392550.3	+	15	1806	c.1689C>A	c.(1687-1689)cgC>cgA	p.R563R	LLGL2_ENST00000577200.1_Silent_p.R563R|LLGL2_ENST00000167462.5_Silent_p.R563R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	563					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCACGAGCGCCTGGCAGCCC	0.667																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1687-1689)cgC>cgA		lethal giant larvae homolog 2 (Drosophila)							29.0	28.0	28.0					17																	73566151		2200	4299	6499	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73566151C>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1689C>A	17.37:g.73566151C>A						LLGL2_ENST00000167462.5_Silent_p.R563R|LLGL2_ENST00000577200.1_Silent_p.R563R	p.R563R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		15	1806	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		563					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.1689C>A	CCDS32733.1																																																																																				0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		26	128	1	0	3.28513e-13	1	3.54196e-13	26	128				
TMPRSS11E	28983	broad.mit.edu	37	4	69327568	69327568	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69327568T>G	ENST00000305363.4	+	2	105	c.41T>G	c.(40-42)gTt>gGt	p.V14G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	14					cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGGAAAAGAGTTTGTTGGGAA	0.418																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(40-42)gTt>gGt		transmembrane protease, serine 11E							368.0	369.0	368.0					4																	69327568		2203	4296	6499	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69327568T>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.41T>G	4.37:g.69327568T>G	ENSP00000307519:p.Val14Gly						p.V14G	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			2	105	+			14					A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.41T>G	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	4.731	0.135857	0.09032	.	.	ENSG00000087128	ENST00000305363	D	0.88431	-2.38	6.03	-3.21	0.05140	.	1.765520	0.03708	N	0.249810	T	0.72946	0.3524	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.60151	-0.7319	10	0.23302	T	0.38	.	1.6525	0.02775	0.116:0.3202:0.2232:0.3406	.	14	Q9UL52	TM11E_HUMAN	G	14	ENSP00000307519:V14G	ENSP00000307519:V14G	V	+	2	0	TMPRSS11E	69010163	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.299000	0.02754	-0.480000	0.06803	0.455000	0.32223	GTT		0.418	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		310	1348	0	0	0	1	0	310	1348				
TMEM86A	144110	broad.mit.edu	37	11	18723381	18723381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18723381C>T	ENST00000280734.2	+	3	644	c.548C>T	c.(547-549)gCa>gTa	p.A183V		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	183						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGCAGTGGTGCACTCTTCTTT	0.582																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(547-549)gCa>gTa		transmembrane protein 86A							109.0	92.0	98.0					11																	18723381		2199	4293	6492	SO:0001583	missense	144110					integral to membrane		g.chr11:18723381C>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.548C>T	11.37:g.18723381C>T	ENSP00000280734:p.Ala183Val						p.A183V	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			3	644	+			183					Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	c.548C>T	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499632	0.64298	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.38887	1.11	5.43	5.43	0.79202	.	0.054144	0.64402	D	0.000001	T	0.72661	0.3488	M	0.92219	3.285	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.78866	-0.2035	9	.	.	.	-6.7924	19.428	0.94751	0.0:1.0:0.0:0.0	.	183	Q8N2M4	TM86A_HUMAN	V	183	ENSP00000280734:A183V	.	A	+	2	0	TMEM86A	18679957	1.000000	0.71417	0.426000	0.26672	0.055000	0.15305	7.307000	0.78920	2.824000	0.97209	0.655000	0.94253	GCA		0.582	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		66	349	0	0	0	1	0	66	349				
C2CD3	26005	broad.mit.edu	37	11	73814404	73814404	+	Silent	SNP	C	C	T	rs147082398	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814404C>T	ENST00000334126.7	-	14	2578	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	C2CD3_ENST00000313663.7_Silent_p.T784T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGGCTGGCGTAGCTACGA	0.458													C|||	15	0.00299521	0.0	0.0	5008	,	,		20683	0.0		0.0	False		,,,				2504	0.0153					ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2350-2352)acG>acA		C2 calcium-dependent domain containing 3		C		0,4400		0,0,2200	185.0	162.0	170.0		2352	3.0	0.5	11	dbSNP_134	170	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	C2CD3	NM_015531.4		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		784/1964	73814404	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73814404C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2352G>A	11.37:g.73814404C>T						C2CD3_ENST00000313663.7_Silent_p.T784T	p.T784T			Q4AC94	C2CD3_HUMAN			14	2578	-	Breast(11;4.16e-06)		784					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.2352G>A																																																																																					0.458	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		94	413	0	0	0	1	0	94	413				
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70585410G>A	ENST00000260126.4	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	747						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2239-2241)ttC>ttT		solute carrier organic anion transporter family, member 5A1							92.0	96.0	95.0					8																	70585410		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585410G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2241C>T	8.37:g.70585410G>A						SLCO5A1_ENST00000530307.1_Silent_p.F692F|SLCO5A1_ENST00000524945.1_3'UTR	p.F747F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	2947	-	Breast(64;0.0654)		747					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.2241C>T	CCDS6205.1																																																																																				0.488	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		95	437	0	0	0	1	0	95	437				
LRRC4C	57689	broad.mit.edu	37	11	40136995	40136995	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136995G>T	ENST00000278198.2	-	2	2811	c.848C>A	c.(847-849)cCt>cAt	p.P283H	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P283H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	283					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGGTCATGAGGCAGTAATGT	0.443																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(847-849)cCt>cAt		leucine rich repeat containing 4C							216.0	168.0	184.0					11																	40136995		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136995G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.848C>A	11.37:g.40136995G>T	ENSP00000278198:p.Pro283His					LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P283H	p.P283H			Q9HCJ2	LRC4C_HUMAN			2	2811	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	283					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.848C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286485	0.59867	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00520	-1.1692	10	0.37606	T	0.19	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	283	Q9HCJ2	LRC4C_HUMAN	H	283	ENSP00000278198:P283H;ENSP00000436976:P283H;ENSP00000437132:P283H;ENSP00000434761:P283H	ENSP00000278198:P283H	P	-	2	0	LRRC4C	40093571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CCT		0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		16	698	1	0	4.14922e-12	1	4.44601e-12	16	698				
MAST4	375449	broad.mit.edu	37	5	66461935	66461935	+	Missense_Mutation	SNP	C	C	T	rs371350803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461935C>T	ENST00000403625.2	+	29	7223	c.6928C>T	c.(6928-6930)Cca>Tca	p.P2310S	MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S|MAST4_ENST00000404260.3_Missense_Mutation_p.P2313S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2313						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCGGGACACCCAGGGCCTAG	0.602											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6937-6939)Cca>Tca		microtubule associated serine/threonine kinase family member 4							22.0	28.0	26.0					5																	66461935		1943	4128	6071	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461935C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6928C>T	5.37:g.66461935C>T	ENSP00000385727:p.Pro2310Ser		OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2310S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S	p.P2313S			O15021	MAST4_HUMAN		Lung(70;0.011)	29	7245	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2313					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6937C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.32|10.32	1.318213|1.318213	0.23994|0.23994	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.64991	.|-0.1;-0.1;-0.13;-0.12;-0.1	4.62|4.62	2.66|2.66	0.31614|0.31614	.|.	0.910882|0.910882	0.09254|0.09254	N|N	0.827460|0.827460	T|T	0.41166|0.41166	0.1147|0.1147	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25272	.|0.075;0.122	.|B;B	.|0.25291	.|0.027;0.059	T|T	0.29671|0.29671	-1.0004|-1.0004	6|10	.|0.15066	.|T	.|0.55	0.1795|0.1795	2.4979|2.4979	0.04626|0.04626	0.2633:0.4739:0.1624:0.1004|0.2633:0.4739:0.1624:0.1004	.|.	.|2313;2121	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|S	1366|2313;2310;2121;2131;2131;2116	.|ENSP00000385048:P2313S;ENSP00000385727:P2310S;ENSP00000384313:P2121S;ENSP00000384099:P2131S;ENSP00000261569:P2116S	.|ENSP00000261569:P2116S	P|P	+|+	2|1	0|0	MAST4|MAST4	66497691|66497691	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.026000|0.026000	0.11368|0.11368	0.269000|0.269000	0.18589|0.18589	1.159000|1.159000	0.42565|0.42565	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.602	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			20	58	0	0	0	1	0	20	58				
MYO18A	399687	broad.mit.edu	37	17	27448960	27448960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27448960G>T	ENST00000527372.1	-	4	1283	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	368	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAGCTCCTCAGATTTGAGTTG	0.592																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(1102-1104)tCt>tAt		myosin XVIIIA							88.0	90.0	89.0					17																	27448960		2077	4209	6286	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27448960G>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1103C>A	17.37:g.27448960G>T	ENSP00000437073:p.Ser368Tyr					MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y	p.S368Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		4	1283	-			368					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1103C>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221731	0.79464	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	D;D;D;D	0.89123	-2.36;-2.47;-2.36;-2.36	5.64	5.64	0.86602	.	0.052624	0.85682	D	0.000000	D	0.87748	0.6255	L	0.40543	1.245	0.48632	D	0.999683	P;D;D;D	0.54964	0.837;0.969;0.969;0.958	P;P;P;B	0.46110	0.504;0.461;0.461;0.362	D	0.89266	0.3601	10	0.87932	D	0	.	18.4752	0.90790	0.0:0.0:1.0:0.0	.	37;368;368;368	Q92614-2;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	Y	368;368;368;368;368;48	ENSP00000346291:S368Y;ENSP00000435932:S368Y;ENSP00000434228:S368Y;ENSP00000437073:S368Y	ENSP00000346291:S368Y	S	-	2	0	MYO18A	24473086	1.000000	0.71417	0.929000	0.37066	0.963000	0.63663	5.170000	0.64990	2.655000	0.90218	0.655000	0.94253	TCT		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		35	379	1	0	1.42033e-22	1	1.60844e-22	35	379				
MTHFR	4524	broad.mit.edu	37	1	11860309	11860309	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11860309G>A	ENST00000376592.1	-	3	674	c.546C>T	c.(544-546)atC>atT	p.I182I	MTHFR_ENST00000376590.3_Silent_p.I182I|MTHFR_ENST00000376585.1_Silent_p.I223I|MTHFR_ENST00000376583.3_Silent_p.I223I			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	182					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	ACTCACTTCGGATGTGCTTCA	0.567																																						ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(544-546)atC>atT		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						369.0	278.0	309.0					1																	11860309		2203	4300	6503	SO:0001819	synonymous_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11860309G>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.546C>T	1.37:g.11860309G>A						MTHFR_ENST00000376590.3_Silent_p.I182I|MTHFR_ENST00000376583.3_Silent_p.I223I|MTHFR_ENST00000376585.1_Silent_p.I223I	p.I182I			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	674	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	182					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	c.546C>T	CCDS137.1																																																																																				0.567	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		139	589	0	0	0	1	0	139	589				
VAV1	7409	broad.mit.edu	37	19	6828154	6828154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828154G>A	ENST00000602142.1	+	10	1077	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q|VAV1_ENST00000304076.2_Missense_Mutation_p.R332Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	332	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTATGCAGCGAGTTCTCAAA	0.552																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(994-996)cGa>cAa		vav 1 guanine nucleotide exchange factor							86.0	75.0	79.0					19																	6828154		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828154G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.995G>A	19.37:g.6828154G>A	ENSP00000472929:p.Arg332Gln					VAV1_ENST00000602142.1_Missense_Mutation_p.R332Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q	p.R332Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			10	1089	+			332			DH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.995G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235768	0.79800	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;D	0.87729	-0.27;-2.29	4.5	4.5	0.54988	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.95338	0.8487	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.98;0.999;0.998;1.0	P;P;D;D	0.74348	0.676;0.894;0.983;0.983	D	0.96788	0.9580	10	0.87932	D	0	.	14.7102	0.69225	0.0:0.0:1.0:0.0	.	235;332;277;332	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	332;235	ENSP00000302269:R332Q;ENSP00000443242:R235Q	ENSP00000302269:R332Q	R	+	2	0	VAV1	6779154	1.000000	0.71417	0.980000	0.43619	0.390000	0.30446	9.064000	0.93933	2.076000	0.62316	0.462000	0.41574	CGA		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			39	219	0	0	0	1	0	39	219				
PCDH19	57526	broad.mit.edu	37	X	99657821	99657821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99657821T>G	ENST00000373034.4	-	3	3992	c.2317A>C	c.(2317-2319)Aag>Cag	p.K773Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	773					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTTGATTTCTTTTGATGCCCA	0.423																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(2317-2319)Aag>Cag		protocadherin 19							143.0	116.0	125.0					X																	99657821		1893	4118	6011	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657821T>G	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2317A>C	X.37:g.99657821T>G	ENSP00000362125:p.Lys773Gln					PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q	p.K773Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			3	3992	-			773					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.2317A>C	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	t	14.05	2.419309	0.42918	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53206	0.65;0.63;0.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.966;0.925	T	0.50338	-0.8840	10	0.12103	T	0.63	.	15.3292	0.74193	0.0:0.0:0.0:1.0	.	773;726;726	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	726;773;726	ENSP00000400327:K726Q;ENSP00000362125:K773Q;ENSP00000255531:K726Q	ENSP00000255531:K726Q	K	-	1	0	PCDH19	99544477	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.721000	0.68477	2.004000	0.58718	0.478000	0.44815	AAG		0.423	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		47	188	0	0	0	1	0	47	188				
PKDREJ	10343	broad.mit.edu	37	22	46653832	46653832	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46653832T>G	ENST00000253255.5	-	1	5387	c.5388A>C	c.(5386-5388)caA>caC	p.Q1796H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1796					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGCTCTCACTTGCCTCATCA	0.418																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(5386-5388)caA>caC		polycystin (PKD) family receptor for egg jelly							162.0	164.0	164.0					22																	46653832		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653832T>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5388A>C	22.37:g.46653832T>G	ENSP00000253255:p.Gln1796His						p.Q1796H	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5387	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1796					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5388A>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672873	0.67928	.	.	ENSG00000130943	ENST00000253255	T	0.74737	-0.87	4.8	-2.72	0.05968	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.52532	D	0.000062	T	0.81987	0.4939	M	0.78637	2.42	0.35820	D	0.824515	D	0.89917	1.0	D	0.77004	0.989	T	0.82853	-0.0252	10	0.87932	D	0	-21.0554	10.1347	0.42699	0.0:0.3969:0.0:0.6031	.	1796	Q9NTG1	PKDRE_HUMAN	H	1796	ENSP00000253255:Q1796H	ENSP00000253255:Q1796H	Q	-	3	2	PKDREJ	45032496	0.656000	0.27385	0.977000	0.42913	0.968000	0.65278	-0.152000	0.10159	-0.478000	0.06823	0.254000	0.18369	CAA		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		121	1091	0	0	0	1	0	121	1091				
BNIP3L	665	broad.mit.edu	37	8	26238355	26238355	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26238355G>A	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA|BNIP3L_ENST00000520409.1_5'Flank|BNIP3L_ENST00000523515.1_5'Flank	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		ACATGCAGTTGTGATAACATT	0.383																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:26238355G>A	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26238355G>A	Exception_encountered													0	1593	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.383	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		34	327	0	0	0	1	0	34	327				
PAPD7	11044	broad.mit.edu	37	5	6751208	6751208	+	Silent	SNP	G	G	A	rs113180271	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6751208G>A	ENST00000230859.6	+	11	1296	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	619					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGCAAGCGCCAGCTCCTC	0.532													G|||	28	0.00559105	0.0	0.0101	5008	,	,		16057	0.002		0.0119	False		,,,				2504	0.0072				NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1165-1167)gcG>gcA		PAP associated domain containing 7		G	,,	8,4398	14.3+/-33.2	0,8,2195	136.0	131.0	133.0		1167,627,1167	-11.6	0.0	5	dbSNP_132	133	79,8521	46.3+/-105.2	0,79,4221	no	coding-synonymous,coding-synonymous,coding-synonymous	PAPD7	NM_001171805.1,NM_001171806.1,NM_006999.4	,,	0,87,6416	AA,AG,GG		0.9186,0.1816,0.6689	,,	389/542,209/363,389/543	6751208	87,12919	2203	4300	6503	SO:0001819	synonymous_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6751208G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1167G>A	5.37:g.6751208G>A							p.A389A	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			11	1296	+			389					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	37	c.1167G>A	CCDS3871.1																																																																																				0.532	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		121	510	0	0	0	1	0	121	510				
PLXDC1	57125	broad.mit.edu	37	17	37239786	37239786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37239786C>T	ENST00000315392.4	-	9	1126	c.915G>A	c.(913-915)ctG>ctA	p.L305L	PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000394316.2_Silent_p.L305L|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.L265L|CTD-2206N4.4_ENST00000583447.1_RNA|AC091178.1_ENST00000410562.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	305					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTATGCTGCAGGCAGGCTG	0.567																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(913-915)ctG>ctA		plexin domain containing 1							83.0	50.0	62.0					17																	37239786		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37239786C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.915G>A	17.37:g.37239786C>T						PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.L265L|PLXDC1_ENST00000394316.2_Silent_p.L305L	p.L305L	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			9	1126	-			305					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.915G>A	CCDS11333.1																																																																																				0.567	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		14	89	0	0	0	1	0	14	89				
HS6ST1	9394	broad.mit.edu	37	2	129026007	129026007	+	Missense_Mutation	SNP	G	G	A	rs374196972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026007G>A	ENST00000259241.6	-	2	978	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	322					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCCGCCCGCGTGCTATTGTA	0.602																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(964-966)aCg>aTg		heparan sulfate 6-O-sulfotransferase 1		G	MET/THR	0,4276		0,0,2138	41.0	45.0	43.0		965	4.8	0.9	2		43	1,8481		0,1,4240	no	missense	HS6ST1	NM_004807.2	81	0,1,6378	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	322/412	129026007	1,12757	2138	4241	6379	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026007G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.965C>T	2.37:g.129026007G>A	ENSP00000259241:p.Thr322Met						p.T322M	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	978	-	Colorectal(110;0.1)		322					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.965C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874780	0.72180	0.0	1.18E-4	ENSG00000136720	ENST00000259241	T	0.76060	-0.99	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.88433	0.6435	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90425	0.4420	9	.	.	.	-1.3832	17.8351	0.88693	0.0:0.0:1.0:0.0	.	322	O60243	H6ST1_HUMAN	M	322	ENSP00000259241:T322M	.	T	-	2	0	HS6ST1	128742477	1.000000	0.71417	0.934000	0.37439	0.537000	0.34900	7.570000	0.82390	2.203000	0.70933	0.462000	0.41574	ACG		0.602	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		66	204	0	0	0	1	0	66	204				
LGALS4	3960	broad.mit.edu	37	19	39292728	39292728	+	Silent	SNP	G	G	A	rs368398848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292728G>A	ENST00000307751.4	-	9	1206	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	243	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCACGGTACCGTTGCCCATGC	0.552																																						ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(727-729)aaC>aaT		lectin, galactoside-binding, soluble, 4		G		0,4406		0,0,2203	68.0	61.0	64.0		729	-6.2	0.0	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LGALS4	NM_006149.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		243/324	39292728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292728G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.729C>T	19.37:g.39292728G>A							p.N243N	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		9	1206	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		243			Galectin 2.			Silent	SNP	ENST00000307751.4	37	c.729C>T	CCDS12521.1																																																																																				0.552	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		54	247	0	0	0	1	0	54	247				
DMBT1	1755	broad.mit.edu	37	10	124339216	124339216	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124339216G>T	ENST00000338354.3	+	10	908	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S|DMBT1_ENST00000368909.3_Missense_Mutation_p.A268S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	268	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCAATGATGCCAATGTGGT	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(802-804)Gcc>Tcc		deleted in malignant brain tumors 1							215.0	214.0	214.0					10																	124339216		2004	4169	6173	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339216G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.802G>T	10.37:g.124339216G>T	ENSP00000342210:p.Ala268Ser					DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.A268S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S	p.A268S			Q9UGM3	DMBT1_HUMAN			10	908	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	268			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.802G>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.269065	0.80469	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.07	4.07	0.47477	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.79776	0.4504	H	0.97415	4	0.80722	D	1	D;D;D;P;D	0.76494	0.998;0.986;0.999;0.619;0.999	D;D;D;P;D	0.91635	0.987;0.991;0.985;0.727;0.999	D	0.88134	0.2840	9	0.72032	D	0.01	.	16.7077	0.85376	0.0:0.0:1.0:0.0	.	268;268;268;268;268	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	S	268	ENSP00000342210:A268S;ENSP00000343175:A268S;ENSP00000327747:A268S;ENSP00000357905:A268S;ENSP00000357951:A268S;ENSP00000357952:A268S	ENSP00000331522:A268S	A	+	1	0	DMBT1	124329206	1.000000	0.71417	0.489000	0.27452	0.676000	0.39594	6.350000	0.73017	2.017000	0.59298	0.537000	0.68136	GCC		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		52	2046	1	0	3.5997e-14	1	3.90403e-14	52	2046				
SLC9A3R1	9368	broad.mit.edu	37	17	72764365	72764365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72764365C>T	ENST00000262613.5	+	5	1073	c.878C>T	c.(877-879)aCc>aTc	p.T293I	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	293					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TCCAGTGACACCAGCGAGGAG	0.642																																						ENST00000262613.5																			0				large_intestine(4)	4						c.(877-879)aCc>aTc		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1							44.0	50.0	48.0					17																	72764365		2203	4300	6503	SO:0001583	missense	9368				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association	g.chr17:72764365C>T	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.878C>T	17.37:g.72764365C>T	ENSP00000262613:p.Thr293Ile					SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	p.T293I	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN			5	1073	+			293					B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	c.878C>T	CCDS11705.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039640	0.19669	.	.	ENSG00000109062	ENST00000262613	T	0.31247	1.5	4.37	4.37	0.52481	.	0.489229	0.22378	N	0.060844	T	0.30727	0.0774	M	0.67953	2.075	0.35992	D	0.836765	B	0.12630	0.006	B	0.09377	0.004	T	0.28038	-1.0056	10	0.19147	T	0.46	-12.1327	12.783	0.57487	0.0:1.0:0.0:0.0	.	293	O14745	NHRF1_HUMAN	I	293	ENSP00000262613:T293I	ENSP00000262613:T293I	T	+	2	0	SLC9A3R1	70275960	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	3.450000	0.52957	2.142000	0.66516	0.467000	0.42956	ACC		0.642	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			99	401	0	0	0	1	0	99	401				
ARHGAP39	80728	broad.mit.edu	37	8	145771066	145771066	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145771066G>T	ENST00000276826.5	-	5	2289	c.2088C>A	c.(2086-2088)aaC>aaA	p.N696K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	696					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAGGCCCAGTTCTCGATGT	0.637																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2086-2088)aaC>aaA		Rho GTPase activating protein 39							60.0	54.0	56.0					8																	145771066		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145771066G>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2088C>A	8.37:g.145771066G>T	ENSP00000276826:p.Asn696Lys					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K	p.N696K			Q9C0H5	RHG39_HUMAN			5	2289	-			696					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2088C>A		.	.	.	.	.	.	.	.	.	.	G	18.28	3.588366	0.66105	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.68331	-0.32;-0.04;-0.32	5.22	4.35	0.52113	.	0.157092	0.56097	D	0.000033	T	0.50429	0.1615	N	0.03050	-0.425	0.45464	D	0.998435	D;P	0.58620	0.983;0.918	P;P	0.55508	0.777;0.712	T	0.47923	-0.9079	10	0.10636	T	0.68	-10.3016	11.4392	0.50086	0.0886:0.0:0.9114:0.0	.	696;696	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	696	ENSP00000276826:N696K;ENSP00000366522:N696K;ENSP00000445075:N696K	ENSP00000276826:N696K	N	-	3	2	ARHGAP39	145741874	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.044000	0.57361	1.190000	0.43042	0.650000	0.86243	AAC		0.637	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			28	225	1	0	1.75199e-13	1	1.89187e-13	28	225				
MORC4	79710	broad.mit.edu	37	X	106236586	106236586	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106236586G>T	ENST00000355610.4	-	3	456	c.182C>A	c.(181-183)gCt>gAt	p.A61D	MORC4_ENST00000535534.1_De_novo_Start_OutOfFrame|MORC4_ENST00000255495.7_Missense_Mutation_p.A61D	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	61						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TGGATCTACAGCATTATCTGC	0.393																																						ENST00000535534.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28								MORC family CW-type zinc finger 4							107.0	94.0	98.0					X																	106236586		1870	4093	5963	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106236586G>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.182C>A	X.37:g.106236586G>T	ENSP00000347821:p.Ala61Asp					MORC4_ENST00000255495.7_Missense_Mutation_p.A61D|MORC4_ENST00000355610.4_Missense_Mutation_p.A61D				Q8TE76	MORC4_HUMAN			0	456	-								A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Translation_Start_Site	SNP	ENST00000355610.4	37		CCDS14525.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553454	0.86127	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	D;D	0.84370	-1.84;-1.84	5.44	5.44	0.79542	ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96314	0.9231	9	.	.	.	-13.0165	15.7844	0.78291	0.0:0.0:1.0:0.0	.	61;61	A1YR23;Q8TE76	.;MORC4_HUMAN	D	61	ENSP00000347821:A61D;ENSP00000255495:A61D	.	A	-	2	0	MORC4	106123242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.830000	0.92063	2.413000	0.81919	0.594000	0.82650	GCT		0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		66	260	1	0	3.13743e-37	1	3.76563e-37	66	260				
IYD	389434	broad.mit.edu	37	6	150715331	150715331	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150715331C>T	ENST00000344419.3	+	4	767	c.627C>T	c.(625-627)gtC>gtT	p.V209V	IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000425615.3_Silent_p.V154V|IYD_ENST00000500320.3_Silent_p.V209V|IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	209					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGAAAAAAGTCCACTACTACA	0.438																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(625-627)gtC>gtT		iodotyrosine deiodinase							134.0	119.0	124.0					6																	150715331		2203	4300	6503	SO:0001819	synonymous_variant	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715331C>T	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.627C>T	6.37:g.150715331C>T						IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V|IYD_ENST00000425615.3_Silent_p.V154V|IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000500320.3_Silent_p.V209V	p.V209V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	767	+		Ovarian(120;0.028)	209					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	ENST00000344419.3	37	c.627C>T	CCDS5227.1																																																																																				0.438	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		60	337	0	0	0	1	0	60	337				
PTPRM	5797	broad.mit.edu	37	18	7926650	7926650	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7926650G>T	ENST00000332175.8	+	5	1669	c.632G>T	c.(631-633)aGg>aTg	p.R211M	PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M|PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M|PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	211	Ig-like C2-type.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCATCGGCAGGACCGTGGCA	0.507																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(631-633)aGg>aTg		protein tyrosine phosphatase, receptor type, M							84.0	80.0	81.0					18																	7926650		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7926650G>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.632G>T	18.37:g.7926650G>T	ENSP00000331418:p.Arg211Met					PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M|PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M|PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M	p.R211M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			5	1669	+		Colorectal(10;0.234)	211			Ig-like C2-type.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.632G>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926527	0.52759	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.22743	1.94;1.94;1.94	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.104379	0.64402	D	0.000006	T	0.20129	0.0484	L	0.47190	1.495	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.37091	0.241;0.241	T	0.01684	-1.1296	10	0.87932	D	0	.	10.9831	0.47506	0.1443:0.0:0.8557:0.0	.	211;211	A7MBN1;P28827	.;PTPRM_HUMAN	M	211;211;149	ENSP00000331418:R211M;ENSP00000382933:R211M;ENSP00000382927:R149M	ENSP00000331418:R211M	R	+	2	0	PTPRM	7916650	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.022000	0.49659	2.602000	0.87976	0.563000	0.77884	AGG		0.507	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			52	275	1	0	4.78724e-31	1	5.62855e-31	52	275				
ZCCHC14	23174	broad.mit.edu	37	16	87446179	87446179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87446179C>T	ENST00000268616.4	-	12	1954	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	579							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGCTCTCCGAAAGCCCAG	0.612																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1735-1737)tcG>tcA		zinc finger, CCHC domain containing 14							50.0	55.0	53.0					16																	87446179		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446179C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1737G>A	16.37:g.87446179C>T							p.S579S	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	1954	-			579					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.1737G>A	CCDS10961.1																																																																																				0.612	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		11	431	0	0	0	1	0	11	431				
SPATA2L	124044	broad.mit.edu	37	16	89764195	89764195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764195C>T	ENST00000289805.5	-	3	890	c.822G>A	c.(820-822)ggG>ggA	p.G274G	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	274										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCCGGCCCCCAGTGCCCC	0.697																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(820-822)ggG>ggA		spermatogenesis associated 2-like							11.0	13.0	12.0					16																	89764195		2167	4266	6433	SO:0001819	synonymous_variant	124044							g.chr16:89764195C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.822G>A	16.37:g.89764195C>T						SPATA2L_ENST00000335360.7_Intron	p.G274G	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	890	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	274					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.822G>A	CCDS10985.1																																																																																				0.697	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		19	69	0	0	0	1	0	19	69				
PCDH15	65217	broad.mit.edu	37	10	55600201	55600201	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600201A>T	ENST00000320301.6	-	29	4256	c.3862T>A	c.(3862-3864)Tcc>Acc	p.S1288T	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000373965.2_Missense_Mutation_p.S1295T|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1288					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCCAATGGACTCCACTACG	0.458										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3883-3885)Tcc>Acc		protocadherin-related 15							111.0	100.0	104.0					10																	55600201		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55600201A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3862T>A	10.37:g.55600201A>T	ENSP00000322604:p.Ser1288Thr	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1288T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T	p.S1295T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			30	4277	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1288					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3883T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455461	0.63401	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58506	0.45;0.49;0.44;0.45;0.4;0.36;0.33;0.39;0.34;0.34;0.34	5.43	5.43	0.79202	.	.	.	.	.	T	0.62974	0.2472	N	0.24115	0.695	0.80722	D	1	D;P;P;P;B;P;D;B;B;B;B;B;P	0.57257	0.979;0.719;0.589;0.589;0.224;0.719;0.979;0.025;0.131;0.131;0.052;0.172;0.589	D;B;B;B;B;B;D;B;B;B;B;B;B	0.74348	0.983;0.241;0.145;0.145;0.145;0.241;0.983;0.061;0.109;0.109;0.083;0.145;0.145	T	0.61888	-0.6970	9	0.32370	T	0.25	.	15.4284	0.75072	1.0:0.0:0.0:0.0	.	1266;1288;1288;1293;1217;1251;1288;1288;1295;1295;1288;1293;1288	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1295;1293;1288;1288;899;1295;1251;1288;1266;1288;1288;1293;1217	ENSP00000363076:S1295T;ENSP00000410304:S1293T;ENSP00000378826:S1288T;ENSP00000386693:S899T;ENSP00000378832:S1295T;ENSP00000378820:S1251T;ENSP00000354950:S1288T;ENSP00000378821:S1266T;ENSP00000322604:S1288T;ENSP00000378818:S1288T;ENSP00000412628:S1217T	ENSP00000322604:S1288T	S	-	1	0	PCDH15	55270207	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.059000	0.64306	2.182000	0.69389	0.472000	0.43445	TCC		0.458	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		71	283	0	0	0	1	0	71	283				
DPYSL4	10570	broad.mit.edu	37	10	134012464	134012464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134012464C>T	ENST00000338492.4	+	8	964	c.800C>T	c.(799-801)gCc>gTc	p.A267V	DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	267					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATCGCTCAGGCCAAGCGCAGA	0.672																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(799-801)gCc>gTc		dihydropyrimidinase-like 4							57.0	47.0	51.0					10																	134012464		2201	4300	6501	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134012464C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.800C>T	10.37:g.134012464C>T	ENSP00000339850:p.Ala267Val					DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V	p.A267V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	8	964	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	267					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.800C>T	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099403	0.94197	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.92545	-3.06;-3.06;-3.06	3.94	3.94	0.45596	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98832	1.0751	10	0.87932	D	0	-8.8405	16.6038	0.84823	0.0:1.0:0.0:0.0	.	267	O14531	DPYL4_HUMAN	V	267;167;167	ENSP00000339850:A267V;ENSP00000357618:A167V;ENSP00000357616:A167V	ENSP00000339850:A267V	A	+	2	0	DPYSL4	133862454	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.237000	0.78164	2.209000	0.71365	0.555000	0.69702	GCC		0.672	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			58	205	0	0	0	1	0	58	205				
REL	5966	broad.mit.edu	37	2	61145657	61145657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61145657G>A	ENST00000295025.8	+	7	1089	c.769G>A	c.(769-771)Gta>Ata	p.V257I	REL_ENST00000394479.3_Missense_Mutation_p.V257I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	257	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGAACCCGTAACAGTAAA	0.408			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(769-771)Gta>Ata		v-rel avian reticuloendotheliosis viral oncogene homolog							117.0	115.0	115.0					2																	61145657		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61145657G>A	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.769G>A	2.37:g.61145657G>A	ENSP00000295025:p.Val257Ile					REL_ENST00000394479.3_Missense_Mutation_p.V257I	p.V257I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		7	1089	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	257			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.769G>A	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575881	0.45902	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.54071	0.59;0.59	5.78	5.78	0.91487	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.055514	0.64402	D	0.000001	T	0.41373	0.1156	L	0.48935	1.535	0.48571	D	0.999678	P;P	0.34864	0.473;0.473	B;B	0.17722	0.019;0.019	T	0.34329	-0.9833	10	0.38643	T	0.18	-1.8014	12.7968	0.57564	0.1158:0.0:0.8842:0.0	.	257;257	Q17RU2;Q04864	.;REL_HUMAN	I	257	ENSP00000295025:V257I;ENSP00000377989:V257I	ENSP00000295025:V257I	V	+	1	0	REL	60999161	1.000000	0.71417	0.711000	0.30485	0.846000	0.48090	3.530000	0.53539	2.730000	0.93505	0.655000	0.94253	GTA		0.408	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		163	438	0	0	0	1	0	163	438				
KLHL12	59349	broad.mit.edu	37	1	202878242	202878242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202878242C>T	ENST00000367261.3	-	6	946	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H|KLHL12_ENST00000367259.1_5'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	243					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAAACTACAGCGGATGAAAGG	0.453																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(727-729)cGc>cAc		kelch-like family member 12							89.0	94.0	93.0					1																	202878242		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202878242C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.728G>A	1.37:g.202878242C>T	ENSP00000356230:p.Arg243His					KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H|KLHL12_ENST00000367259.1_5'UTR	p.R243H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		6	946	-			243					A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.728G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009934	0.93346	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.69306	-0.38;-0.39;-0.3	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.82433	2.59	0.80722	D	1	D;D;B	0.71674	0.981;0.998;0.013	B;P;B	0.54346	0.377;0.749;0.002	T	0.83233	-0.0062	10	0.66056	D	0.02	.	19.3442	0.94357	0.0:1.0:0.0:0.0	.	281;281;243	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	H	243;281;281	ENSP00000356230:R243H;ENSP00000416886:R281H;ENSP00000356227:R281H	ENSP00000356227:R281H	R	-	2	0	KLHL12	201144865	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.358000	0.79466	2.641000	0.89580	0.563000	0.77884	CGC		0.453	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		17	475	0	0	0	1	0	17	475				
NDOR1	27158	broad.mit.edu	37	9	140109118	140109118	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109118C>A	ENST00000344894.5	+	7	902	c.819C>A	c.(817-819)ctC>ctA	p.L273L	NDOR1_ENST00000371521.4_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L|NDOR1_ENST00000458322.2_Silent_p.L273L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGACCAGCTCTTCATGCTGC	0.682																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(817-819)ctC>ctA		NADPH dependent diflavin oxidoreductase 1							33.0	34.0	34.0					9																	140109118		2203	4299	6502	SO:0001819	synonymous_variant	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109118C>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.819C>A	9.37:g.140109118C>A						NDOR1_ENST00000344894.5_Silent_p.L273L|NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L	p.L273L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	7	902	+	all_cancers(76;0.0926)		273			FAD-binding FR-type.			Silent	SNP	ENST00000344894.5	37	c.819C>A	CCDS7036.1																																																																																				0.682	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		60	249	1	0	1.1362e-29	1	1.32843e-29	60	249				
SYNE1	23345	broad.mit.edu	37	6	152694260	152694260	+	Missense_Mutation	SNP	G	G	A	rs146402274	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152694260G>A	ENST00000367255.5	-	59	10020	c.9419C>T	c.(9418-9420)gCg>gTg	p.A3140V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATCCCTTTCGCTTTCTCTTT	0.398										HNSCC(10;0.0054)			G|||	2	0.000399361	0.0	0.0014	5008	,	,		16120	0.001		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(9418-9420)gCg>gTg		spectrin repeat containing, nuclear envelope 1		G	VAL/ALA,VAL/ALA	4,4402	6.2+/-15.9	0,4,2199	164.0	170.0	168.0		9440,9419	6.0	1.0	6	dbSNP_134	168	0,8600		0,0,4300	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	64,64	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	3147/8750,3140/8798	152694260	4,13002	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152694260G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9419C>T	6.37:g.152694260G>A	ENSP00000356224:p.Ala3140Val	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V	p.A3140V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	59	10020	-		Ovarian(120;0.0955)	3140					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9419C>T	CCDS5236.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	11.51|11.51	1.658993|1.658993	0.29515|0.29515	9.08E-4|9.08E-4	0.0|0.0	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18;1.18|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.092885|.	0.46758|.	D|.	0.000271|.	T|.	0.56411|.	0.1983|.	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.29253|.	0.016;0.239;0.016;0.048|.	B;B;B;B|.	0.24269|.	0.006;0.052;0.006;0.013|.	T|.	0.50206|.	-0.8855|.	10|.	0.15066|.	T|.	0.55|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3140;257;3140;3147|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	V|X	3140;3147;3140;3147;3179|257	ENSP00000356224:A3140V;ENSP00000396024:A3147V;ENSP00000265368:A3140V;ENSP00000390975:A3147V;ENSP00000341887:A3179V|.	ENSP00000265368:A3140V|.	A|R	-|-	2|1	0|2	SYNE1|SYNE1	152735953|152735953	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.031000|0.031000	0.12232|0.12232	5.061000|5.061000	0.64319|0.64319	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		171	670	0	0	0	1	0	171	670				
HHIP	64399	broad.mit.edu	37	4	145635402	145635402	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145635402C>T	ENST00000296575.3	+	9	2104	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	483					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTTAGAATTCAAGCCATTCA	0.378																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1447-1449)ttC>ttT		hedgehog interacting protein							124.0	115.0	118.0					4																	145635402		2203	4300	6503	SO:0001819	synonymous_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145635402C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1449C>T	4.37:g.145635402C>T							p.F483F	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	9	2104	+	all_hematologic(180;0.151)		483					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	c.1449C>T	CCDS3762.1																																																																																				0.378	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			32	160	0	0	0	1	0	32	160				
BTNL8	79908	broad.mit.edu	37	5	180377192	180377192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180377192G>A	ENST00000340184.4	+	8	1357	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E|BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACTGAATGGAGAACATTTG	0.512																																						ENST00000340184.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1150-1152)gGa>gAa		butyrophilin-like 8							135.0	125.0	128.0					5																	180377192		2061	3871	5932	SO:0001583	missense	79908					integral to membrane		g.chr5:180377192G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1151G>A	5.37:g.180377192G>A	ENSP00000342197:p.Gly384Glu					BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E	p.G384E	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1357	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	384			B30.2/SPRY.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.1151G>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.296925	0.01364	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	1.89	-3.78	0.04333	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33440	0.0863	N	0.13098	0.295	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.0;0.0;0.006	T	0.06127	-1.0844	9	0.11485	T	0.65	.	2.5575	0.04764	0.3517:0.1419:0.3936:0.1128	.	259;268;384	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	E	384;259;268;177;200	ENSP00000342197:G384E;ENSP00000383543:G259E;ENSP00000425207:G268E;ENSP00000427441:G177E;ENSP00000435098:G200E	ENSP00000342197:G384E	G	+	2	0	BTNL8	180309798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.449000	0.06812	-3.895000	0.00094	-2.987000	0.00079	GGA		0.512	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		105	282	0	0	0	1	0	105	282				
PCDH10	57575	broad.mit.edu	37	4	134073477	134073477	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073477A>G	ENST00000264360.5	+	1	3008	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	728					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGTCCTTCATCTTCCTGCT	0.592																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2182-2184)Atc>Gtc		protocadherin 10							93.0	104.0	100.0					4																	134073477		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073477A>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2182A>G	4.37:g.134073477A>G	ENSP00000264360:p.Ile728Val						p.I728V	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3008	+			728					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2182A>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470172	0.26423	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	3.29	0.37713	.	0.170949	0.28706	N	0.014403	T	0.28466	0.0704	N	0.13299	0.325	0.51012	D	0.999904	B;B	0.12013	0.005;0.004	B;B	0.19946	0.012;0.027	T	0.04551	-1.0943	10	0.24483	T	0.36	.	9.7391	0.40406	0.9168:0.0:0.0832:0.0	.	728;728	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	728	ENSP00000264360:I728V	ENSP00000264360:I728V	I	+	1	0	PCDH10	134292927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	0.750000	0.32877	0.459000	0.35465	ATC		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		98	368	0	0	0	1	0	98	368				
FAM86DP	692099	broad.mit.edu	37	3	75471222	75471222	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75471222G>A	ENST00000459803.1	-	0	1919					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		GGAAGAACCTGCAGGAGTCGC	0.512																																						ENST00000459803.1																			0																																																			0							g.chr3:75471222G>A	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.75471222G>A								NR_024241.1						0	1919	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.512	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		27	179	0	0	0	1	0	27	179				
FOSL2	2355	broad.mit.edu	37	2	28634796	28634796	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28634796G>T	ENST00000264716.4	+	4	1325		c.e4-1		FOSL2_ENST00000545753.1_Splice_Site|FOSL2_ENST00000379619.1_Missense_Mutation_p.Q146H	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2						cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTCCGTGGCAGGAGACAGAGG	0.542																																						ENST00000379619.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(436-438)caG>caT		FOS-like antigen 2							38.0	43.0	42.0					2																	28634796		2203	4300	6503	SO:0001630	splice_region_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634796G>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.463-1G>T	2.37:g.28634796G>T						FOSL2_ENST00000545753.1_Splice_Site|FOSL2_ENST00000264716.4_Splice_Site	p.Q146H			P15408	FOSL2_HUMAN			4	446	+	Acute lymphoblastic leukemia(172;0.155)		154					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.438G>T	CCDS1766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.789324|3.789324	0.70337|0.70337	.|.	.|.	ENSG00000075426|ENSG00000075426	ENST00000264716;ENST00000436647;ENST00000545753|ENST00000379619	.|T	.|0.76709	.|-1.04	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86698	.|0.5995	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86468	.|0.1783	.|6	.|0.49607	.|T	.|0.09	.|.	19.3591|19.3591	0.94428|0.94428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|146	.|ENSP00000368939:Q146H	.|ENSP00000368939:Q146H	.|Q	+|+	.|3	.|2	FOSL2|FOSL2	28488300|28488300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	9.649000|9.649000	0.98487|0.98487	2.746000|2.746000	0.94184|0.94184	0.650000|0.650000	0.86243|0.86243	.|CAG		0.542	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253	Intron	8	335	1	0	0.000157383	1	0.000159814	8	335				
MRGPRX3	117195	broad.mit.edu	37	11	18159146	18159146	+	Missense_Mutation	SNP	C	C	T	rs565496221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18159146C>T	ENST00000396275.2	+	3	758	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTACCACTGCCGCCGCCCCAG	0.572													c|||	1	0.000199681	0.0	0.0	5008	,	,		19919	0.0		0.0	False		,,,				2504	0.001					ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(397-399)Cgc>Tgc		MAS-related GPR, member X3							117.0	110.0	112.0					11																	18159146		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159146C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.397C>T	11.37:g.18159146C>T	ENSP00000379571:p.Arg133Cys						p.R133C	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	758	+			133					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.397C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910516	0.17833	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.73469	-0.75;-0.75	1.46	-0.827	0.10802	GPCR, rhodopsin-like superfamily (1);	0.878186	0.09819	N	0.751759	T	0.67401	0.2889	L	0.58925	1.835	0.24824	N	0.992564	B	0.22800	0.075	B	0.27715	0.082	T	0.60311	-0.7288	10	0.87932	D	0	.	5.0768	0.14636	0.0:0.4322:0.0:0.5678	.	133	Q96LB0	MRGX3_HUMAN	C	133	ENSP00000379571:R133C;ENSP00000436242:R133C	ENSP00000379571:R133C	R	+	1	0	MRGPRX3	18115722	0.001000	0.12720	0.035000	0.18076	0.017000	0.09413	1.191000	0.32138	-0.245000	0.09625	-0.450000	0.05554	CGC		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		155	705	0	0	0	1	0	155	705				
OPALIN	93377	broad.mit.edu	37	10	98105750	98105750	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98105750A>G	ENST00000371172.3	-	6	779	c.374T>C	c.(373-375)aTg>aCg	p.M125T	OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000419479.1_Missense_Mutation_p.M115T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	125						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M115T(1)|p.M125T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTTCTTTCCATTTCTATAGT	0.517																																						ENST00000419479.1																			2	Substitution - Missense(2)	p.M115T(1)|p.M125T(1)	lung(2)	breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						c.(343-345)aTg>aCg		oligodendrocytic myelin paranodal and inner loop protein							168.0	146.0	153.0					10																	98105750		2203	4300	6503	SO:0001583	missense	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98105750A>G	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"""transmembrane protein 10"""	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.374T>C	10.37:g.98105750A>G	ENSP00000360214:p.Met125Thr					OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000371172.3_Missense_Mutation_p.M125T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T	p.M115T	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN			7	851	-			125					A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	37	c.344T>C	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276167	0.23307	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	0.291	0.15732	.	0.846034	0.10440	N	0.674364	T	0.27169	0.0666	L	0.32530	0.975	0.09310	N	1	B;B;B	0.27732	0.187;0.11;0.001	B;B;B	0.22601	0.04;0.04;0.001	T	0.24512	-1.0158	9	0.72032	D	0.01	-1.154	3.7161	0.08438	0.6011:0.1903:0.2086:0.0	.	102;125;115	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	T	125;102;115;114;115	.	ENSP00000360214:M125T	M	-	2	0	OPALIN	98095740	0.009000	0.17119	0.089000	0.20774	0.896000	0.52359	-0.209000	0.09358	-0.045000	0.13468	0.528000	0.53228	ATG		0.517	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		137	515	0	0	0	1	0	137	515				
IRF2BP2	359948	broad.mit.edu	37	1	234743036	234743036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743036G>A	ENST00000366609.3	-	2	1641	c.1611C>T	c.(1609-1611)agC>agT	p.S537S	IRF2BP2_ENST00000366610.3_Silent_p.S521S|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	537	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCTGTTTGATGCTTTGTCTGG	0.567																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1609-1611)agC>agT		interferon regulatory factor 2 binding protein 2							80.0	88.0	85.0					1																	234743036		2203	4300	6503	SO:0001819	synonymous_variant	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743036G>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1611C>T	1.37:g.234743036G>A						IRF2BP2_ENST00000366610.3_Silent_p.S521S|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	p.S537S	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1641	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	537			Cys-rich.		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	c.1611C>T	CCDS1602.1																																																																																				0.567	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		155	506	0	0	0	1	0	155	506				
MEGF11	84465	broad.mit.edu	37	15	66190367	66190367	+	Missense_Mutation	SNP	C	C	T	rs267604294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190367C>T	ENST00000409699.2	-	23	3212	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1014					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTAGGTAGGTCGTATGCATTC	0.478																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(3040-3042)Gac>Aac		multiple EGF-like-domains 11							139.0	124.0	129.0					15																	66190367		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66190367C>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3040G>A	15.37:g.66190367C>T	ENSP00000386908:p.Asp1014Asn					MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N|MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N	p.D1014N			A6BM72	MEG11_HUMAN			23	3212	-			1014					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.3040G>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838665	0.71373	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.95103	-3.61;-3.5;-3.61;-3.5	5.03	4.12	0.48240	.	0.000000	0.39020	U	0.001487	D	0.92064	0.7485	M	0.73217	2.22	0.80722	D	1	B;B	0.34255	0.445;0.374	B;B	0.20577	0.03;0.025	D	0.91630	0.5318	10	0.87932	D	0	.	13.2972	0.60305	0.0:0.9244:0.0:0.0756	.	1014;939	A6BM72;A6BM72-2	MEG11_HUMAN;.	N	1014;939;1014;939	ENSP00000386908:D1014N;ENSP00000288745:D939N;ENSP00000414475:D1014N;ENSP00000378987:D939N	ENSP00000288745:D939N	D	-	1	0	MEGF11	63977421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.452000	0.52971	1.345000	0.45676	0.655000	0.94253	GAC		0.478	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		44	219	0	0	0	1	0	44	219				
GRIN2C	2905	broad.mit.edu	37	17	72842218	72842218	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72842218C>A	ENST00000293190.5	-	11	2483	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	779					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCCCAGGAACTGCAAGAGCG	0.602																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2335-2337)caG>caT		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						142.0	115.0	124.0					17																	72842218		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72842218C>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2337G>T	17.37:g.72842218C>A	ENSP00000293190:p.Gln779His					GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	p.Q779H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			11	2483	-	all_lung(278;0.172)|Lung NSC(278;0.207)		779					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2337G>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774255	0.31411	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.28069	1.63	4.21	2.16	0.27623	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.37850	1.14	0.51233	D	0.999914	D;D	0.71674	0.998;0.99	D;D	0.65140	0.932;0.913	T	0.17258	-1.0375	10	0.87932	D	0	.	10.0838	0.42406	0.0:0.8309:0.0:0.1691	.	813;779	Q8IW23;Q14957	.;NMDE3_HUMAN	H	779;813	ENSP00000293190:Q779H	ENSP00000293190:Q779H	Q	-	3	2	GRIN2C	70353813	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.192000	0.50989	0.504000	0.28082	0.561000	0.74099	CAG		0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			85	499	1	0	2.58158e-40	1	3.12921e-40	85	499				
PTK2	5747	broad.mit.edu	37	8	141799596	141799596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799596C>T	ENST00000522684.1	-	14	1383	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q|PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	385					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCGTGTGTCCGCATGCCTTG	0.512																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1153-1155)cGg>cAg		protein tyrosine kinase 2							249.0	227.0	235.0					8																	141799596		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141799596C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1154G>A	8.37:g.141799596C>T	ENSP00000429911:p.Arg385Gln					PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q|PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q	p.R385Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		14	1383	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	385					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1154G>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435814	0.83885	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.76578	-1.01;-0.98;-1.03;-1.01;-0.99;-0.94;-0.99;-0.95;-1.03;-1.0	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	L	0.50333	1.59	0.44309	D	0.997188	B;B;B;B;B;B;B;D	0.53619	0.181;0.373;0.11;0.336;0.222;0.074;0.055;0.961	B;B;B;B;B;B;B;P	0.48524	0.011;0.048;0.014;0.019;0.013;0.009;0.006;0.58	T	0.75260	-0.3380	10	0.32370	T	0.25	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	385;46;292;385;407;385;296;46	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	Q	385;385;429;385;295;385;292;46;50;385;46;429;49;203	ENSP00000429911:R385Q;ENSP00000438009:R385Q;ENSP00000429082:R429Q;ENSP00000429474:R385Q;ENSP00000378644:R385Q;ENSP00000428492:R50Q;ENSP00000341189:R385Q;ENSP00000445742:R46Q;ENSP00000429129:R429Q;ENSP00000430603:R49Q	ENSP00000341189:R385Q	R	-	2	0	PTK2	141868778	0.998000	0.40836	0.989000	0.46669	0.995000	0.86356	4.196000	0.58407	2.941000	0.99782	0.655000	0.94253	CGG		0.512	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		195	901	0	0	0	1	0	195	901				
RC3H2	54542	broad.mit.edu	37	9	125659725	125659725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659725C>T	ENST00000373670.1	-	1	664	c.64G>A	c.(64-66)Gat>Aat	p.D22N	RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N|RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	22					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACATTCTCATCAAATTCATTA	0.443																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(64-66)Gat>Aat		ring finger and CCCH-type domains 2							91.0	86.0	87.0					9																	125659725		1918	4121	6039	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125659725C>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.64G>A	9.37:g.125659725C>T	ENSP00000362774:p.Asp22Asn					RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N	p.D22N			Q9HBD1	RC3H2_HUMAN			1	664	-			22					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.64G>A	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125828	0.94429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	N	0.16903	0.455	0.58432	D	0.999999	B;D;B;D	0.67145	0.02;0.993;0.033;0.996	B;D;B;D	0.79784	0.072;0.971;0.036;0.993	D	0.87560	0.2471	10	0.34782	T	0.22	4.0E-4	19.8676	0.96824	0.0:1.0:0.0:0.0	.	22;22;22;22	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	N	22	ENSP00000362774:D22N;ENSP00000349783:D22N;ENSP00000411767:D22N;ENSP00000362769:D22N;ENSP00000335150:D22N	ENSP00000335150:D22N	D	-	1	0	RC3H2	124699546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAT		0.443	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		19	124	0	0	0	1	0	19	124				
PCDHGB6	56100	broad.mit.edu	37	5	140789477	140789477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140789477G>A	ENST00000520790.1	+	1	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	570	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGTCCTGACGGCTCCGC	0.652																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1708-1710)Gac>Aac									27.0	35.0	32.0					5																	140789477		2139	4257	6396	SO:0001583	missense	0							g.chr5:140789477G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1708G>A	5.37:g.140789477G>A	ENSP00000428603:p.Asp570Asn					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D570N	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1708	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1708G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	10.42	1.345171	0.24426	.	.	ENSG00000253305	ENST00000520790	T	0.48522	0.81	5.36	5.36	0.76844	Cadherin-like (1);	.	.	.	.	T	0.45637	0.1352	N	0.13352	0.335	0.09310	N	1	D;D	0.62365	0.991;0.983	D;D	0.64595	0.917;0.927	T	0.30208	-0.9986	9	0.28530	T	0.3	.	7.8633	0.29522	0.0858:0.1639:0.7503:0.0	.	570;570	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	570	ENSP00000428603:D570N	ENSP00000428603:D570N	D	+	1	0	PCDHGB6	140769661	0.057000	0.20700	0.498000	0.27564	0.025000	0.11179	2.332000	0.43903	2.517000	0.84864	0.462000	0.41574	GAC		0.652	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		39	109	0	0	0	1	0	39	109				
YWHAH	7533	broad.mit.edu	37	22	32352162	32352162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32352162C>T	ENST00000248975.5	+	2	397	c.124C>T	c.(124-126)Cga>Tga	p.R42*	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR|snoU13_ENST00000459049.1_RNA	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	42					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CAATGAAGATCGAAATCTCCT	0.448																																					Ovarian(98;460 2060 9263 44007)	ENST00000248975.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(124-126)Cga>Tga		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide							101.0	93.0	96.0					22																	32352162		2203	4300	6503	SO:0001587	stop_gained	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32352162C>T	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.124C>T	22.37:g.32352162C>T	ENSP00000248975:p.Arg42*					YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	p.R42*	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN			2	397	+			42						Nonsense_Mutation	SNP	ENST00000248975.5	37	c.124C>T	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378687	0.42207	.	.	ENSG00000128245	ENST00000248975;ENST00000420430	.	.	.	5.95	2.6	0.31112	.	0.075854	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0057	9.3128	0.37915	0.4046:0.5275:0.0:0.0679	.	.	.	.	X	42;29	.	ENSP00000248975:R42X	R	+	1	2	YWHAH	30682162	0.267000	0.24122	1.000000	0.80357	0.995000	0.86356	0.191000	0.17076	0.349000	0.23975	0.655000	0.94253	CGA		0.448	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		91	301	0	0	0	1	0	91	301				
GBE1	2632	broad.mit.edu	37	3	81699009	81699009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81699009C>T	ENST00000429644.2	-	4	1136	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	165					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCTTCACGAACCACATACTTT	0.338									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(493-495)Gtt>Att		glucan (1,4-alpha-), branching enzyme 1							99.0	97.0	97.0					3																	81699009		1873	4116	5989	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81699009C>T		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.493G>A	3.37:g.81699009C>T	ENSP00000410833:p.Val165Ile					GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	p.V165I	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	4	1136	-		Lung NSC(201;0.0117)	165					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.493G>A	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056943	0.36277	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.19250	2.16;2.16	5.83	-2.4	0.06583	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.140370	0.06154	N	0.674717	T	0.16811	0.0404	L	0.31157	0.91	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38415	-0.9662	10	0.52906	T	0.07	-0.2979	12.0024	0.53240	0.0:0.4188:0.0:0.5812	.	124;165	E9PGM4;Q04446	.;GLGB_HUMAN	I	165;216;124	ENSP00000410833:V165I;ENSP00000419638:V124I	ENSP00000264326:V216I	V	-	1	0	GBE1	81781699	0.028000	0.19301	0.800000	0.32199	0.881000	0.50899	-0.013000	0.12678	-0.503000	0.06586	0.650000	0.86243	GTT		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			32	151	0	0	0	1	0	32	151				
S100A4	6275	broad.mit.edu	37	1	153516359	153516359	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153516359T>C	ENST00000368716.4	-	3	329	c.182A>G	c.(181-183)aAc>aGc	p.N61S	S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000368714.1_Missense_Mutation_p.N61S|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Missense_Mutation_p.N61S|S100A4_ENST00000354332.4_Missense_Mutation_p.N61S|S100A5_ENST00000359215.1_5'Flank	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	61	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	GCTGTCCAAGTTGCTCATCAG	0.507																																						ENST00000368716.4																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(181-183)aAc>aGc		S100 calcium binding protein A4							233.0	210.0	218.0					1																	153516359		2203	4300	6503	SO:0001583	missense	6275				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding	g.chr1:153516359T>C	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.182A>G	1.37:g.153516359T>C	ENSP00000357705:p.Asn61Ser					S100A4_ENST00000368715.1_Missense_Mutation_p.N61S|S100A4_ENST00000354332.4_Missense_Mutation_p.N61S|S100A4_ENST00000368714.1_Missense_Mutation_p.N61S|S100A4_ENST00000481009.1_5'UTR	p.N61S	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	329	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		61			EF-hand 2.		A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	c.182A>G	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674686	0.47781	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	4.75	3.54	0.40534	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.174333	0.49305	D	0.000145	T	0.03178	0.0093	N	0.24115	0.695	0.36332	D	0.858924	B	0.02656	0.0	B	0.08055	0.003	T	0.26052	-1.0114	10	0.32370	T	0.25	.	7.7901	0.29114	0.0:0.0:0.2123:0.7876	.	61	P26447	S10A4_HUMAN	S	61;61;61;61;50	ENSP00000357704:N61S;ENSP00000346294:N61S;ENSP00000357705:N61S;ENSP00000357703:N61S	ENSP00000346294:N61S	N	-	2	0	S100A4	151782983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.113000	0.50376	1.788000	0.52465	0.459000	0.35465	AAC		0.507	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		17	1146	0	0	0	1	0	17	1146				
ADRA2B	151	broad.mit.edu	37	2	96781656	96781656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781656C>T	ENST00000409345.3	-	1	328	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	78					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGGAAGTACCAGTAGCCCAG	0.652																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(232-234)tGg>tAg		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						47.0	52.0	50.0					2																	96781656		2202	4300	6502	SO:0001587	stop_gained	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781656C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.233G>A	2.37:g.96781656C>T	ENSP00000387281:p.Trp78*						p.W78*	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	328	-			78					Q4TUH9|Q53RF2|Q9BZK0	Nonsense_Mutation	SNP	ENST00000409345.3	37	c.233G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141515	0.94560	.	.	ENSG00000222040	ENST00000409345	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7699	0.69668	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000387281:W78X	W	-	2	0	ADRA2B	96145383	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.651000	0.83577	2.337000	0.79520	0.456000	0.33151	TGG		0.652	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			5	166	0	0	0	1	0	5	166				
KIRREL2	84063	broad.mit.edu	37	19	36355551	36355551	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36355551G>A	ENST00000360202.5	+	14	1925	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	KIRREL2_ENST00000262625.7_Splice_Site_p.G576D|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Splice_Site_p.G526D|KIRREL2_ENST00000592409.1_Splice_Site_p.G541D	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	576					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTACCCCAGGGCCCCATTGTG	0.597																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.e14-1		kin of IRRE like 2 (Drosophila)							195.0	184.0	188.0					19																	36355551		2203	4300	6503	SO:0001630	splice_region_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36355551G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1726-1G>A	19.37:g.36355551G>A						KIRREL2_ENST00000586102.2_Splice_Site_p.G556_splice|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Splice_Site_p.G541_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.G526_splice|KIRREL2_ENST00000262625.7_Splice_Site_p.G576_splice	p.G576_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		14	1925	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		576					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Splice_Site	SNP	ENST00000360202.5	37	c.1725_splice	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855359	0.51376	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.67698	-0.27;-0.04;-0.28	4.05	4.05	0.47172	.	0.410909	0.18096	N	0.151833	T	0.68943	0.3056	L	0.44542	1.39	0.37330	D	0.909922	P;D;P;D;D	0.63046	0.954;0.973;0.954;0.992;0.992	P;P;P;P;P	0.54544	0.476;0.676;0.476;0.755;0.676	T	0.74166	-0.3753	10	0.54805	T	0.06	-5.1472	12.4423	0.55631	0.0:0.0:1.0:0.0	.	576;556;576;526;576	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	D	576;526;576;556;87	ENSP00000262625:G576D;ENSP00000345067:G526D;ENSP00000353331:G576D	ENSP00000262625:G576D	G	+	2	0	KIRREL2	41047391	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	2.618000	0.46393	2.221000	0.72209	0.313000	0.20887	GGC		0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	Missense_Mutation	61	206	0	0	0	1	0	61	206				
DOCK3	1795	broad.mit.edu	37	3	51263178	51263178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51263178C>A	ENST00000266037.9	+	15	1374	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	451	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGTATGTGCTTTATGCAGA	0.433																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1351-1353)Ctt>Att		dedicator of cytokinesis 3							165.0	162.0	163.0					3																	51263178		1892	4125	6017	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51263178C>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1351C>A	3.37:g.51263178C>A	ENSP00000266037:p.Leu451Ile						p.L451I	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	15	1374	+			451			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1351C>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806972	0.90623	.	.	ENSG00000088538	ENST00000266037	T	0.14640	2.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.44542	1.39	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.00948	-1.1504	10	0.22109	T	0.4	.	19.7077	0.96081	0.0:1.0:0.0:0.0	.	451	Q8IZD9	DOCK3_HUMAN	I	451	ENSP00000266037:L451I	ENSP00000266037:L451I	L	+	1	0	DOCK3	51238218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.694000	0.68272	2.733000	0.93635	0.655000	0.94253	CTT		0.433	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		88	398	1	0	1.55023e-36	1	1.85648e-36	88	398				
ARSB	411	broad.mit.edu	37	5	78260339	78260339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78260339C>T	ENST00000264914.4	-	3	1126	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q|ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	197					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTCGCCATCTCGAAAATCAAG	0.393																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(589-591)cGa>cAa		arylsulfatase B							97.0	87.0	90.0					5																	78260339		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78260339C>T	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.590G>A	5.37:g.78260339C>T	ENSP00000264914:p.Arg197Gln					ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q|ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q	p.R197Q	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	3	1126	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	197					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.590G>A	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176424	0.94846	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96587	-4.06;-4.06	5.36	5.36	0.76844	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.065278	0.64402	D	0.000008	D	0.97501	0.9182	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;P	0.71414	0.973;0.835	D	0.97063	0.9772	10	0.41790	T	0.15	.	19.4551	0.94884	0.0:1.0:0.0:0.0	.	197;197	Q8N322;P15848	.;ARSB_HUMAN	Q	197	ENSP00000264914:R197Q;ENSP00000379455:R197Q	ENSP00000264914:R197Q	R	-	2	0	ARSB	78296095	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.177000	0.77650	2.662000	0.90505	0.650000	0.86243	CGA		0.393	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		61	234	0	0	0	1	0	61	234				
IGSF9B	22997	broad.mit.edu	37	11	133814213	133814213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133814213C>T	ENST00000321016.8	-	3	541	c.311G>A	c.(310-312)cGc>cAc	p.R104H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	104	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCTCAGAGCGAACTTGTTC	0.562																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(310-312)cGc>cAc		immunoglobulin superfamily, member 9B							84.0	89.0	87.0					11																	133814213		2054	4213	6267	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133814213C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.311G>A	11.37:g.133814213C>T	ENSP00000317980:p.Arg104His					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104H	p.R104H			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	3	541	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	104			Ig-like 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.311G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.131947	0.94473	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.83008	0.5161	M	0.79258	2.445	0.58432	D	0.999997	D	0.76494	0.999	D	0.73380	0.98	D	0.84370	0.0543	10	0.87932	D	0	.	19.8208	0.96592	0.0:1.0:0.0:0.0	.	104	Q9UPX0	TUTLB_HUMAN	H	104;104;94;151	ENSP00000317980:R104H;ENSP00000436576:R104H;ENSP00000434026:R94H;ENSP00000435989:R151H	ENSP00000317980:R104H	R	-	2	0	IGSF9B	133319423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.819000	0.62664	2.688000	0.91661	0.563000	0.77884	CGC		0.562	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		24	146	0	0	0	1	0	24	146				
WWP1	11059	broad.mit.edu	37	8	87393071	87393071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87393071A>C	ENST00000517970.1	+	4	494	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q	WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	63	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTCTAATCCAAAATGGGATGA	0.318																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(187-189)Aaa>Caa		WW domain containing E3 ubiquitin protein ligase 1							72.0	69.0	70.0					8																	87393071		2203	4299	6502	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87393071A>C	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.187A>C	8.37:g.87393071A>C	ENSP00000427793:p.Lys63Gln					WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q	p.K63Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			4	494	+			63			C2.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.187A>C	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691670	0.48097	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.69435	-0.4;-0.4;-0.4	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056242	0.64402	D	0.000001	T	0.74997	0.3790	L	0.40543	1.245	0.80722	D	1	D	0.63046	0.992	D	0.71414	0.973	T	0.74805	-0.3540	10	0.42905	T	0.14	.	15.9348	0.79694	1.0:0.0:0.0:0.0	.	63	Q9H0M0	WWP1_HUMAN	Q	63	ENSP00000427793:K63Q;ENSP00000265428:K63Q;ENSP00000340564:K63Q	ENSP00000265428:K63Q	K	+	1	0	WWP1	87462187	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.237000	0.89807	2.153000	0.67306	0.482000	0.46254	AAA		0.318	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		28	125	0	0	0	1	0	28	125				
PEX1	5189	broad.mit.edu	37	7	92138680	92138680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92138680C>T	ENST00000248633.4	-	9	1728	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.D223N|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	545					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGAATAAAGTCAATTTCCTCA	0.343																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1633-1635)Gac>Aac		peroxisomal biogenesis factor 1							69.0	71.0	70.0					7																	92138680		2203	4297	6500	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92138680C>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1633G>A	7.37:g.92138680C>T	ENSP00000248633:p.Asp545Asn					PEX1_ENST00000438045.1_Missense_Mutation_p.D223N|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N	p.D545N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		9	1728	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	545					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1633G>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241212	0.79912	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.95412	-3.51;-3.54;-3.7	5.95	4.89	0.63831	.	0.499086	0.24238	N	0.040300	D	0.94712	0.8294	L	0.55481	1.735	0.80722	D	1	B;D;D	0.59767	0.139;0.986;0.986	B;P;P	0.50970	0.045;0.655;0.655	D	0.92607	0.6096	10	0.30078	T	0.28	-18.6954	12.974	0.58527	0.0:0.911:0.0:0.089	.	223;337;545	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	N	223;545;545;545	ENSP00000410438:D223N;ENSP00000248633:D545N;ENSP00000394413:D545N	ENSP00000248633:D545N	D	-	1	0	PEX1	91976616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.529000	0.45632	2.826000	0.97356	0.491000	0.48974	GAC		0.343	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		43	175	0	0	0	1	0	43	175				
TTN	7273	broad.mit.edu	37	2	179403534	179403534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403534G>A	ENST00000591111.1	-	304	94323	c.94099C>T	c.(94099-94101)Ctt>Ttt	p.L31367F	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33008F|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31367	Fibronectin type-III 129. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GATATTGAAAGAATCTCAAGT	0.373																																						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.(99022-99024)Ctt>Ttt		titin							115.0	108.0	110.0					2																	179403534		1878	4107	5985	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403534G>A	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.94099C>T	2.37:g.179403534G>A	ENSP00000465570:p.Leu31367Phe					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L31367F|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.L33008F	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)		354	99246	-			31367					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.99022C>T		.	.	.	.	.	.	.	.	.	.	G	15.40	2.821590	0.50633	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57681	0.2070	L	0.53729	1.69	0.31624	N	0.649877	P;P;P;D	0.54397	0.934;0.934;0.934;0.966	P;P;P;P	0.49637	0.617;0.617;0.617;0.617	T	0.66288	-0.5961	9	0.87932	D	0	.	13.2697	0.60153	0.0:0.0:0.7415:0.2584	.	23943;24068;24135;31367	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30440;23943;24135;24068;23940	ENSP00000343764:L30440F;ENSP00000434586:L23943F;ENSP00000340554:L24135F;ENSP00000352154:L24068F	ENSP00000340554:L24135F	L	-	1	0	TTN	179111780	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.343000	0.59348	2.878000	0.98634	0.650000	0.86243	CTT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		161	406	0	0	0	1	0	161	406				
USP36	57602	broad.mit.edu	37	17	76803497	76803497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76803497C>T	ENST00000542802.3	-	14	2072	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	USP36_ENST00000449938.2_Silent_p.Q243Q|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000312010.6_Silent_p.Q543Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	543					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGAAAAGTGCTGTGGAGGAG	0.602																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(1627-1629)caG>caA		ubiquitin specific peptidase 36							62.0	61.0	61.0					17																	76803497		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803497C>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1629G>A	17.37:g.76803497C>T						USP36_ENST00000449938.2_Silent_p.Q243Q|USP36_ENST00000542802.2_Silent_p.Q543Q	p.Q543Q	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	1953	-			543					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.1629G>A	CCDS32755.1																																																																																				0.602	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		39	194	0	0	0	1	0	39	194				
STIM1	6786	broad.mit.edu	37	11	4104554	4104554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4104554G>A	ENST00000300737.4	+	10	1869	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STIM1_ENST00000527651.1_Missense_Mutation_p.E434K|STIM1_ENST00000533977.1_Missense_Mutation_p.E261K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	434	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCAACAGATCGAGATCCTCTG	0.582																																						ENST00000300737.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1300-1302)Gag>Aag		stromal interaction molecule 1							95.0	87.0	89.0					11																	4104554		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4104554G>A	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1300G>A	11.37:g.4104554G>A	ENSP00000300737:p.Glu434Lys					STIM1_ENST00000527651.1_Missense_Mutation_p.E434K|STIM1_ENST00000533977.1_Missense_Mutation_p.E261K	p.E434K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	10	1869	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	434					E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.1300G>A	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183147	0.94885	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;D;T	0.87966	-1.33;-2.32;-1.27	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.75484	0.546;0.986	D	0.93930	0.7213	10	0.87932	D	0	-18.9901	18.7957	0.91993	0.0:0.0:1.0:0.0	.	434;434	E9PQJ4;Q13586	.;STIM1_HUMAN	K	434;434;261	ENSP00000300737:E434K;ENSP00000436208:E434K;ENSP00000434767:E261K	ENSP00000300737:E434K	E	+	1	0	STIM1	4061130	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.416000	0.97383	2.698000	0.92095	0.557000	0.71058	GAG		0.582	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		13	365	0	0	0	1	0	13	365				
CFH	3075	broad.mit.edu	37	1	196659307	196659307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196659307C>T	ENST00000359637.2	+	8	1144	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	CFH_ENST00000367429.4_Missense_Mutation_p.A425V|CFH_ENST00000439155.2_Missense_Mutation_p.A425V			P08603	CFAH_HUMAN	complement factor H	425	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTCCAAAAGCGCAGACCACA	0.433																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1273-1275)gCg>gTg		complement factor H							106.0	90.0	95.0					1																	196659307		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196659307C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1082C>T	1.37:g.196659307C>T	ENSP00000352658:p.Ala361Val					CFH_ENST00000439155.2_Missense_Mutation_p.A425V|CFH_ENST00000359637.2_Missense_Mutation_p.A361V	p.A425V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			9	1514	+			425			Sushi 7.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1274C>T		.	.	.	.	.	.	.	.	.	.	c	10.93	1.491258	0.26774	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64803	-0.12;-0.12;-0.12	4.69	-9.33	0.00639	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33265	0.0857	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.34161	0.243;0.439;0.234;0.034	B;B;B;B	0.27380	0.074;0.079;0.026;0.011	T	0.19353	-1.0308	9	0.31617	T	0.26	.	7.1467	0.25587	0.214:0.0964:0.5946:0.095	.	361;425;425;425	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	V	425;425;425;361	ENSP00000356399:A425V;ENSP00000402656:A425V;ENSP00000352658:A361V	ENSP00000352658:A361V	A	+	2	0	CFH	194925930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.015000	0.03637	-1.894000	0.01105	-3.539000	0.00031	GCG		0.433	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		79	248	0	0	0	1	0	79	248				
ZSWIM8	23053	broad.mit.edu	37	10	75550775	75550775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75550775C>T	ENST00000605216.1	+	8	1201	c.984C>T	c.(982-984)gcC>gcT	p.A328A	ZSWIM8_ENST00000604729.1_Silent_p.A328A|ZSWIM8_ENST00000603114.1_Silent_p.A328A|ZSWIM8_ENST00000604524.1_Silent_p.A328A|ZSWIM8_ENST00000398706.2_Silent_p.A328A	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	328							zinc ion binding (GO:0008270)										AGCCGCCAGCCGCTGCTGAAT	0.557																																						ENST00000604729.1																			0											c.(982-984)gcC>gcT		zinc finger, SWIM-type containing 8							58.0	63.0	61.0					10																	75550775		2013	4184	6197	SO:0001819	synonymous_variant	23053							g.chr10:75550775C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.984C>T	10.37:g.75550775C>T						ZSWIM8_ENST00000604524.1_Silent_p.A328A|ZSWIM8_ENST00000603114.1_Silent_p.A328A|ZSWIM8_ENST00000605216.1_Silent_p.A328A|ZSWIM8_ENST00000398706.2_Silent_p.A328A	p.A328A							8	1281	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.984C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.482|5.482	0.273966|0.273966	0.10403|0.10403	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000451629|ENST00000433366	.|.	.|.	.|.	5.36|5.36	-7.05|-7.05	0.01573|0.01573	.|.	.|.	.|.	.|.	.|.	T|T	0.37999|0.37999	0.1024|0.1024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43572|0.43572	-0.9383|-0.9383	4|4	.|.	.|.	.|.	-3.7544|-3.7544	3.5968|3.5968	0.08009|0.08009	0.1496:0.3868:0.0871:0.3764|0.1496:0.3868:0.0871:0.3764	.|.	.|.	.|.	.|.	L|C	131|51	.|.	.|.	P|R	+|+	2|1	0|0	KIAA0913|KIAA0913	75220781|75220781	0.000000|0.000000	0.05858|0.05858	0.741000|0.741000	0.31004|0.31004	0.974000|0.974000	0.67602|0.67602	-2.725000|-2.725000	0.00808|0.00808	-1.019000|-1.019000	0.03358|0.03358	-0.469000|-0.469000	0.05056|0.05056	CCG|CGC		0.557	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		18	473	0	0	0	1	0	18	473				
KMT2D	8085	broad.mit.edu	37	12	49425501	49425501	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49425501C>A	ENST00000301067.7	-	39	12986	c.12987G>T	c.(12985-12987)caG>caT	p.Q4329H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4329	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGTGGGAAGCTGGGAGCTGG	0.622																																						ENST00000301067.7																			0											c.(12985-12987)caG>caT		lysine (K)-specific methyltransferase 2D							49.0	51.0	51.0					12																	49425501		1941	4130	6071	SO:0001583	missense	8085							g.chr12:49425501C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12987G>T	12.37:g.49425501C>A	ENSP00000301067:p.Gln4329His						p.Q4329H	NM_003482.3	NP_003473.3					39	12986	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.12987G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	1.427	-0.571327	0.03882	.	.	ENSG00000167548	ENST00000301067	T	0.81078	-1.45	3.22	2.31	0.28768	.	.	.	.	.	T	0.70491	0.3230	N	0.19112	0.55	0.18873	N	0.999982	D	0.56521	0.976	P	0.47528	0.549	T	0.61023	-0.7146	9	0.87932	D	0	.	7.0017	0.24813	0.0:0.7695:0.0:0.2305	.	4329	O14686	MLL2_HUMAN	H	4329	ENSP00000301067:Q4329H	ENSP00000301067:Q4329H	Q	-	3	2	MLL2	47711768	0.010000	0.17322	0.994000	0.49952	0.717000	0.41224	-0.029000	0.12329	0.653000	0.30826	0.655000	0.94253	CAG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			19	87	1	0	2.39187e-15	1	2.61288e-15	19	87				
CAND1	55832	broad.mit.edu	37	12	67686551	67686551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67686551C>T	ENST00000545606.1	+	3	799	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	121					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCTCCAGCTTCCAGTGGTAAG	0.433																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(361-363)tCc>tTc		cullin-associated and neddylation-dissociated 1							121.0	120.0	120.0					12																	67686551		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67686551C>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.362C>T	12.37:g.67686551C>T	ENSP00000442318:p.Ser121Phe						p.S121F	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	3	799	+			121					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.362C>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047431	0.93740	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.08634	3.07	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.77820	2.39	0.80722	D	1	P	0.52577	0.954	P	0.50617	0.646	T	0.01993	-1.1233	9	.	.	.	-5.5697	18.1081	0.89526	0.0:1.0:0.0:0.0	.	121	Q86VP6	CAND1_HUMAN	F	121	ENSP00000442318:S121F	.	S	+	2	0	CAND1	65972818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.260000	0.74910	0.655000	0.94253	TCC		0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		112	519	0	0	0	1	0	112	519				
RDH10	157506	broad.mit.edu	37	8	74234928	74234928	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234928C>A	ENST00000240285.5	+	5	1463	c.785C>A	c.(784-786)cCt>cAt	p.P262H	RDH10_ENST00000519380.1_Missense_Mutation_p.P97H|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	262					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAATTGAGCCTTTTCTGCCA	0.398																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(784-786)cCt>cAt		retinol dehydrogenase 10 (all-trans)							65.0	63.0	63.0					8																	74234928		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74234928C>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.785C>A	8.37:g.74234928C>A	ENSP00000240285:p.Pro262His					RDH10_ENST00000519380.1_Missense_Mutation_p.P97H|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	p.P262H	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		5	1463	+	Breast(64;0.0954)		262						Missense_Mutation	SNP	ENST00000240285.5	37	c.785C>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674208	0.47781	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.91068	-2.78;0.41	5.25	4.38	0.52667	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	N	0.11560	0.145	0.58432	D	0.999994	D	0.58970	0.984	P	0.49922	0.626	T	0.81863	-0.0737	10	0.14656	T	0.56	.	14.4028	0.67060	0.0:0.929:0.0:0.071	.	262	Q8IZV5	RDH10_HUMAN	H	262;97	ENSP00000240285:P262H;ENSP00000428132:P97H	ENSP00000240285:P262H	P	+	2	0	RDH10	74397482	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.854000	0.55949	1.589000	0.49982	0.591000	0.81541	CCT		0.398	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			51	281	1	0	1.32667e-27	1	1.53764e-27	51	281				
DCAF13	25879	broad.mit.edu	37	8	104453770	104453770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104453770C>T	ENST00000297579.5	+	10	1907	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	392					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACGTATAGCTCGTCATCGACA	0.383																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1630-1632)Cgt>Tgt		DDB1 and CUL4 associated factor 13							131.0	124.0	126.0					8																	104453770		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104453770C>T	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1630C>T	8.37:g.104453770C>T	ENSP00000297579:p.Arg544Cys						p.R544C	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			10	1907	+			392					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1630C>T	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445274	0.63178	.	.	ENSG00000164934	ENST00000297579	T	0.76316	-1.01	5.42	5.42	0.78866	.	0.068684	0.64402	D	0.000017	D	0.90283	0.6961	M	0.90977	3.165	0.80722	D	1	.	.	.	.	.	.	D	0.92323	0.5867	8	0.87932	D	0	-16.4943	17.4002	0.87458	0.0:1.0:0.0:0.0	.	.	.	.	C	544	ENSP00000297579:R544C	ENSP00000297579:R544C	R	+	1	0	DCAF13	104522946	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.433000	0.44793	2.521000	0.84997	0.563000	0.77884	CGT		0.383	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		108	452	0	0	0	1	0	108	452				
DNAH10	196385	broad.mit.edu	37	12	124332579	124332579	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124332579C>T	ENST00000409039.3	+	32	5557	c.5532C>T	c.(5530-5532)gaC>gaT	p.D1844D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1844	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCACCAAGGACCTGGCGAAAG	0.552																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5530-5532)gaC>gaT		dynein, axonemal, heavy chain 10							113.0	117.0	116.0					12																	124332579		1998	4186	6184	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332579C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5532C>T	12.37:g.124332579C>T							p.D1844D	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5557	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1844			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5532C>T	CCDS9255.2																																																																																				0.552	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			147	614	0	0	0	1	0	147	614				
INTS1	26173	broad.mit.edu	37	7	1525021	1525021	+	Missense_Mutation	SNP	C	C	T	rs200114821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525021C>T	ENST00000404767.3	-	23	3146	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N	INTS1_ENST00000389470.4_Missense_Mutation_p.D1183N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1021					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGCACATCTGTGTCCCCC	0.657																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(3547-3549)Gat>Aat		integrator complex subunit 1							47.0	60.0	56.0					7																	1525021		2105	4220	6325	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1525021C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3061G>A	7.37:g.1525021C>T	ENSP00000385722:p.Asp1021Asn					INTS1_ENST00000404767.3_Missense_Mutation_p.D1021N	p.D1183N			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	24	3546	-		Ovarian(82;0.0253)	1021					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3547G>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535348	0.27475	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44083	0.97;0.93	5.2	4.32	0.51571	.	0.101878	0.64402	D	0.000003	T	0.30510	0.0767	N	0.22421	0.69	0.35414	D	0.792645	B;B	0.26258	0.145;0.036	B;B	0.23716	0.048;0.03	T	0.36504	-0.9745	10	0.52906	T	0.07	.	13.3633	0.60669	0.0:0.924:0.0:0.076	.	1189;1021	A4D213;Q8N201	.;INT1_HUMAN	N	1021;1183	ENSP00000385722:D1021N;ENSP00000374121:D1183N	ENSP00000374121:D1183N	D	-	1	0	INTS1	1491547	1.000000	0.71417	0.002000	0.10522	0.036000	0.12997	5.392000	0.66272	1.181000	0.42912	0.561000	0.74099	GAT		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			58	313	0	0	0	1	0	58	313				
CDH12	1010	broad.mit.edu	37	5	21755864	21755864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:21755864C>A	ENST00000382254.1	-	14	2807	c.1721G>T	c.(1720-1722)aGc>aTc	p.S574I	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.S574I|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	574	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGGGTAGCTGCTGTCTTCTAT	0.453										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1720-1722)aGc>aTc		cadherin 12, type 2 (N-cadherin 2)							185.0	153.0	164.0					5																	21755864		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21755864C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1721G>T	5.37:g.21755864C>A	ENSP00000371689:p.Ser574Ile	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.S574I|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I	p.S574I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			14	2807	-			574			Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1721G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984975	0.74474	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.54279	0.58;0.58;0.58	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.085006	0.85682	D	0.000000	T	0.75258	0.3825	M	0.91818	3.245	0.47037	D	0.999292	P;P	0.48998	0.828;0.918	P;P	0.54431	0.752;0.601	T	0.81491	-0.0909	10	0.87932	D	0	.	19.3164	0.94215	0.0:1.0:0.0:0.0	.	534;574	B7Z2U6;P55289	.;CAD12_HUMAN	I	574;574;534	ENSP00000423577:S574I;ENSP00000371689:S574I;ENSP00000428786:S534I	ENSP00000371689:S574I	S	-	2	0	CDH12	21791621	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.668000	0.54554	2.572000	0.86782	0.460000	0.39030	AGC		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		12	371	1	0	4.36969e-10	1	4.6211e-10	12	371				
KBTBD8	84541	broad.mit.edu	37	3	67058487	67058487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67058487G>A	ENST00000417314.2	+	4	1533	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R469H|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	495						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AATCATCAACGTATGTTTACT	0.403																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1405-1407)cGt>cAt		kelch repeat and BTB (POZ) domain containing 8							122.0	124.0	123.0					3																	67058487		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058487G>A	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1484G>A	3.37:g.67058487G>A	ENSP00000401878:p.Arg495His					KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H|KBTBD8_ENST00000417314.2_Missense_Mutation_p.R495H	p.R469H	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1537	+		Lung NSC(201;0.0765)	495					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1406G>A	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684935	0.47991	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.78481	-1.18;-1.18;-1.18	5.47	5.47	0.80525	Kelch-type beta propeller (1);	0.735555	0.13839	N	0.359220	D	0.86251	0.5888	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.80030	-0.1553	10	0.11182	T	0.66	.	19.3339	0.94307	0.0:0.0:1.0:0.0	.	53;495	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	H	469;53;495	ENSP00000295568:R469H;ENSP00000419738:R53H;ENSP00000401878:R495H	ENSP00000295568:R469H	R	+	2	0	KBTBD8	67141177	1.000000	0.71417	0.766000	0.31476	0.950000	0.60333	9.869000	0.99810	2.575000	0.86900	0.650000	0.86243	CGT		0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		91	431	0	0	0	1	0	91	431				
ARSE	415	broad.mit.edu	37	X	2861177	2861177	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2861177G>A	ENST00000381134.3	-	8	1121	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	ARSE_ENST00000545496.1_Missense_Mutation_p.S377L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTGATCCGACGTAAAATA	0.473																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1129-1131)tCg>tTg		arylsulfatase E (chondrodysplasia punctata 1)							83.0	76.0	79.0					X																	2861177		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2861177G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1055C>T	X.37:g.2861177G>A	ENSP00000370526:p.Ser352Leu					ARSE_ENST00000381134.3_Missense_Mutation_p.S352L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L	p.S377L			P51690	ARSE_HUMAN			9	1421	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	352					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.1130C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008822	0.75046	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.96619	-4.07;-4.07;-4.07	3.66	3.66	0.41972	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.99855	4.85	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.992	D	0.98419	1.0576	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	307;377;352	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	L	307;377;352	ENSP00000438198:S307L;ENSP00000441417:S377L;ENSP00000370526:S352L	ENSP00000370526:S352L	S	-	2	0	ARSE	2871177	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.542000	0.82095	1.608000	0.50180	0.600000	0.82982	TCG		0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		61	181	0	0	0	1	0	61	181				
DNAH10	196385	broad.mit.edu	37	12	124303737	124303737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124303737G>A	ENST00000409039.3	+	22	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1196	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGATAGAGGAGTTTGCAAA	0.393																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3586-3588)Gag>Aag		dynein, axonemal, heavy chain 10							161.0	154.0	156.0					12																	124303737		1913	4128	6041	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124303737G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3586G>A	12.37:g.124303737G>A	ENSP00000386770:p.Glu1196Lys						p.E1196K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	22	3611	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1196			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3586G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	5.950	0.359278	0.11239	.	.	ENSG00000197653	ENST00000409039	T	0.21191	2.02	5.18	1.15	0.20763	.	.	.	.	.	T	0.09730	0.0239	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41305	-0.9516	9	0.13470	T	0.59	.	6.9428	0.24502	0.1514:0.2907:0.5579:0.0	.	1196	Q8IVF4	DYH10_HUMAN	K	1196	ENSP00000386770:E1196K	ENSP00000386770:E1196K	E	+	1	0	DNAH10	122869690	0.055000	0.20627	0.000000	0.03702	0.064000	0.16182	0.915000	0.28638	-0.064000	0.13043	0.455000	0.32223	GAG		0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			16	85	0	0	0	1	0	16	85				
ZKSCAN4	387032	broad.mit.edu	37	6	28213259	28213259	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213259T>C	ENST00000377294.2	-	5	1516	c.1273A>G	c.(1273-1275)Att>Gtt	p.I425V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	425					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGTATGAATTTTGTGATGT	0.473																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1273-1275)Att>Gtt		zinc finger with KRAB and SCAN domains 4							77.0	78.0	78.0					6																	28213259		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213259T>C	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1273A>G	6.37:g.28213259T>C	ENSP00000366509:p.Ile425Val					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	p.I425V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1516	-			425					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1273A>G	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763298	0.69763	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.00986	5.47;5.47	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.33137	0.985	0.25935	N	0.982941	D	0.63880	0.993	D	0.76071	0.987	T	0.56860	-0.7909	9	0.49607	T	0.09	.	14.9164	0.70801	0.0:0.0:0.0:1.0	.	425	Q969J2	ZKSC4_HUMAN	V	425;270;131;301	ENSP00000366509:I425V;ENSP00000401978:I270V	ENSP00000349249:I301V	I	-	1	0	ZKSCAN4	28321238	0.001000	0.12720	1.000000	0.80357	0.856000	0.48823	1.094000	0.30951	2.212000	0.71576	0.533000	0.62120	ATT		0.473	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		93	342	0	0	0	1	0	93	342				
STAB1	23166	broad.mit.edu	37	3	52554039	52554039	+	Missense_Mutation	SNP	G	G	A	rs369575212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52554039G>A	ENST00000321725.6	+	51	5391	c.5315G>A	c.(5314-5316)cGa>cAa	p.R1772Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1772	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGCCTTTCGAGCTCTGCCT	0.627																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(5314-5316)cGa>cAa		stabilin 1		G	GLN/ARG	0,4406		0,0,2203	56.0	58.0	57.0		5315	-8.2	0.0	3		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB1	NM_015136.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1772/2571	52554039	1,13005	2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554039G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5315G>A	3.37:g.52554039G>A	ENSP00000312946:p.Arg1772Gln						p.R1772Q	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	51	5391	+			1772			FAS1 6.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5315G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196156	0.01594	0.0	1.16E-4	ENSG00000010327	ENST00000321725	D	0.89617	-2.54	5.67	-8.25	0.01025	FAS1 domain (5);	1.077420	0.07224	N	0.861373	T	0.71056	0.3295	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.65747	-0.6093	10	0.02654	T	1	.	18.2521	0.90007	0.3326:0.0:0.6674:0.0	.	1772	Q9NY15	STAB1_HUMAN	Q	1772	ENSP00000312946:R1772Q	ENSP00000312946:R1772Q	R	+	2	0	STAB1	52529079	0.000000	0.05858	0.023000	0.16930	0.012000	0.07955	-0.792000	0.04594	-1.389000	0.02090	-1.008000	0.02478	CGA		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		35	222	0	0	0	1	0	35	222				
TTN	7273	broad.mit.edu	37	2	179419672	179419672	+	Missense_Mutation	SNP	C	C	T	rs143193258	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419672C>T	ENST00000591111.1	-	281	83815	c.83591G>A	c.(83590-83592)cGc>cAc	p.R27864H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29505H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27864	Ig-like 130.				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)			ACTATTAAGGCGATCGGCATC	0.428													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18246	0.0		0.0	False		,,,				2504	0.0					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.(88513-88515)cGc>cAc		titin							90.0	86.0	87.0					2																	179419672		1937	4135	6072	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419672C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83591G>A	2.37:g.179419672C>T	ENSP00000465570:p.Arg27864His					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27864H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.R29505H	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)		331	88738	-			27864			Fibronectin type-III 115.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.88514G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.48	3.633142	0.67015	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65101	0.2659	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65389	-0.6180	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20440;20565;20632;27864	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	26937;20440;20632;20565;20437	ENSP00000343764:R26937H;ENSP00000434586:R20440H;ENSP00000340554:R20632H;ENSP00000352154:R20565H	ENSP00000340554:R20632H	R	-	2	0	TTN	179127918	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	CGC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	167	0	0	0	1	0	45	167				
CWC22	57703	broad.mit.edu	37	2	180817221	180817221	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180817221T>C	ENST00000410053.3	-	17	2093	c.1794A>G	c.(1792-1794)aaA>aaG	p.K598K	CWC22_ENST00000295749.6_Silent_p.K598K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	598					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTGCATTAAGTTTAGGAAGAC	0.353																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(1792-1794)aaA>aaG		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							53.0	50.0	51.0					2																	180817221		1826	4068	5894	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180817221T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1794A>G	2.37:g.180817221T>C						CWC22_ENST00000295749.6_Silent_p.K598K	p.K598K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			17	2093	-			598					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.1794A>G	CCDS46465.1																																																																																				0.353	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		5	34	0	0	0	1	0	5	34				
TXNDC11	51061	broad.mit.edu	37	16	11792005	11792005	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11792005G>A	ENST00000356957.3	-	8	1271	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	TXNDC11_ENST00000283033.5_Silent_p.A361A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	388					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGACTTTCGGCCAGGGGAT	0.507																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1162-1164)gcC>gcT		thioredoxin domain containing 11							117.0	117.0	117.0					16																	11792005		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11792005G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1164C>T	16.37:g.11792005G>A						TXNDC11_ENST00000283033.5_Silent_p.A361A	p.A388A			Q6PKC3	TXD11_HUMAN			8	1271	-			388					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1164C>T																																																																																					0.507	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		132	453	0	0	0	1	0	132	453				
ZFYVE16	9765	broad.mit.edu	37	5	79743884	79743884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79743884G>T	ENST00000338008.5	+	7	2944	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	922					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TACTACAGTGGAAAAGCCAAA	0.328																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2764-2766)Gaa>Taa		zinc finger, FYVE domain containing 16							78.0	76.0	77.0					5																	79743884		2203	4300	6503	SO:0001587	stop_gained	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79743884G>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2764G>T	5.37:g.79743884G>T	ENSP00000337159:p.Glu922*					ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*	p.E922*	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	7	2944	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	922					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	ENST00000338008.5	37	c.2764G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	40	8.124485	0.98665	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.43	3.58	0.41010	.	0.207974	0.34110	N	0.004242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-12.612	6.9264	0.24418	0.14:0.1602:0.6998:0.0	.	.	.	.	X	922	.	ENSP00000337159:E922X	E	+	1	0	ZFYVE16	79779640	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.353000	0.34045	1.396000	0.46663	0.650000	0.86243	GAA		0.328	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		55	244	1	0	1.0442e-30	1	1.22599e-30	55	244				
FAM188B	84182	broad.mit.edu	37	7	30876373	30876373	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30876373T>C	ENST00000265299.6	+	7	1309	c.1232T>C	c.(1231-1233)gTa>gCa	p.V411A	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	411										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCTCTCAGTAGCAAAGGTA	0.458																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1231-1233)gTa>gCa		family with sequence similarity 188, member B							170.0	167.0	168.0					7																	30876373		2047	4203	6250	SO:0001583	missense	84182							g.chr7:30876373T>C	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1232T>C	7.37:g.30876373T>C	ENSP00000265299:p.Val411Ala					INMT-FAM188B_ENST00000458257.1_3'UTR	p.V411A	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			7	1309	+			411					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1232T>C	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	7.292	0.611184	0.14066	.	.	ENSG00000106125	ENST00000265299	T	0.09538	2.97	4.67	2.37	0.29283	.	0.921018	0.09231	N	0.830597	T	0.09423	0.0232	L	0.44542	1.39	0.19300	N	0.999974	B	0.13145	0.007	B	0.09377	0.004	T	0.35301	-0.9794	10	0.87932	D	0	-1.3325	2.773	0.05340	0.1888:0.1998:0.0:0.6114	.	411	Q4G0A6	F188B_HUMAN	A	411	ENSP00000265299:V411A	ENSP00000265299:V411A	V	+	2	0	FAM188B	30842898	0.028000	0.19301	0.811000	0.32455	0.576000	0.36127	0.479000	0.22228	0.948000	0.37687	0.528000	0.53228	GTA		0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		99	308	0	0	0	1	0	99	308				
TSG101	7251	broad.mit.edu	37	11	18536328	18536328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536328G>T	ENST00000251968.3	-	4	669	c.254C>A	c.(253-255)cCt>cAt	p.P85H	TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Missense_Mutation_p.P85H	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	85	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AAAACAGATAGGGGGATTATA	0.323																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(253-255)cCt>cAt		tumor susceptibility 101							151.0	164.0	160.0					11																	18536328		2199	4290	6489	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18536328G>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.254C>A	11.37:g.18536328G>T	ENSP00000251968:p.Pro85His					TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000251968.3_Missense_Mutation_p.P85H	p.P85H			Q99816	TS101_HUMAN			4	388	-			85			UEV.		Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.254C>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664400	0.67700	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	D;D	0.87179	-2.2;-2.22	5.78	5.78	0.91487	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97057	0.9768	10	0.87932	D	0	-17.6356	20.0203	0.97492	0.0:0.0:1.0:0.0	.	85	Q99816	TS101_HUMAN	H	85	ENSP00000438471:P85H;ENSP00000251968:P85H	ENSP00000251968:P85H	P	-	2	0	TSG101	18492904	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.646000	0.98474	2.730000	0.93505	0.655000	0.94253	CCT		0.323	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		103	596	1	0	6.25226e-48	1	7.70577e-48	103	596				
DHX37	57647	broad.mit.edu	37	12	125434989	125434989	+	Missense_Mutation	SNP	G	G	A	rs376946837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125434989G>A	ENST00000308736.2	-	23	3189	c.3091C>T	c.(3091-3093)Cgg>Tgg	p.R1031W	DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACAGCACCCGCCCCCGCTCG	0.657																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3091-3093)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box polypeptide 37		G	TRP/ARG	0,4400		0,0,2200	23.0	24.0	24.0		3091	5.1	0.5	12		24	1,8597		0,1,4298	no	missense	DHX37	NM_032656.3	101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1031/1158	125434989	1,12997	2200	4299	6499	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125434989G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3091C>T	12.37:g.125434989G>A	ENSP00000311135:p.Arg1031Trp					DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	p.R1031W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	3189	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1031					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.3091C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866819	0.51588	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03413	4.01;3.94	5.07	5.07	0.68467	.	0.149951	0.53938	D	0.000059	T	0.17789	0.0427	M	0.85299	2.745	0.47245	D	0.999366	D;D	0.71674	0.998;0.998	P;P	0.56916	0.809;0.623	T	0.01367	-1.1373	10	0.51188	T	0.08	12.7338	18.4511	0.90704	0.0:0.0:1.0:0.0	.	818;1031	F5H3Y4;Q8IY37	.;DHX37_HUMAN	W	1031;818	ENSP00000311135:R1031W;ENSP00000439009:R818W	ENSP00000311135:R1031W	R	-	1	2	DHX37	124000942	1.000000	0.71417	0.533000	0.28001	0.017000	0.09413	1.670000	0.37502	2.360000	0.80028	0.555000	0.69702	CGG		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		23	125	0	0	0	1	0	23	125				
GPRC5C	55890	broad.mit.edu	37	17	72439974	72439974	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72439974C>A	ENST00000481232.1	+	3	934	c.423C>A	c.(421-423)caC>caA	p.H141Q	GPRC5C_ENST00000392627.1_Missense_Mutation_p.P402T|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000582873.1_3'UTR			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	0					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCGGTGTCACCATACAGCGG	0.572																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1204-1206)Cca>Aca		G protein-coupled receptor, family C, group 5, member C							125.0	107.0	113.0					17																	72439974		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72439974C>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.423C>A	17.37:g.72439974C>A	ENSP00000462147:p.His141Gln					GPRC5C_ENST00000481232.1_Missense_Mutation_p.H141Q|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T	p.P402T	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			3	2330	+			357					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000481232.1	37	c.1204C>A		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508381	0.27036	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18810	2.19	5.3	5.3	0.74995	.	0.298370	0.36519	N	0.002557	T	0.43233	0.1238	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;0.981;0.981;0.992	T	0.28004	-1.0057	10	0.72032	D	0.01	-21.0327	16.4521	0.83994	0.0:1.0:0.0:0.0	.	68;357;357;369	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	T	357;402;68;369;357	ENSP00000376405:P369T	ENSP00000262616:P68T	P	+	1	0	GPRC5C	69951569	1.000000	0.71417	0.676000	0.29932	0.318000	0.28184	5.328000	0.65887	2.483000	0.83821	0.643000	0.83706	CCA		0.572	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2			67	290	1	0	6.06247e-24	1	6.9123e-24	67	290				
SP110	3431	broad.mit.edu	37	2	231077540	231077540	+	Silent	SNP	C	C	T	rs114550400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231077540C>T	ENST00000358662.4	-	4	597	c.519G>A	c.(517-519)tcG>tcA	p.S173S	SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000258381.6_Silent_p.S173S	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	173			S -> L (in dbSNP:rs41552315).		regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGGGCTGGGCGACTCACTCA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18409	0.001		0.0	False		,,,				2504	0.0					ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(517-519)tcG>tcA		SP110 nuclear body protein		C	,,,	0,4406		0,0,2203	168.0	163.0	165.0		537,519,519,519	-6.6	0.0	2	dbSNP_132	165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SP110	NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	179/556,173/690,173/550,173/714	231077540	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231077540C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.519G>A	2.37:g.231077540C>T						SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000358662.4_Silent_p.S173S|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000338556.3_5'UTR	p.S173S	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	4	596	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	173		S -> L (in dbSNP:rs41552315).			B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	c.519G>A	CCDS2474.1																																																																																				0.562	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		145	775	0	0	0	1	0	145	775				
CACNA1F	778	broad.mit.edu	37	X	49088333	49088333	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49088333G>A	ENST00000376265.2	-	2	143	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	CACNA1F_ENST00000323022.5_Silent_p.L28L|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	28					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGGGGCACAGCCCCCATTCG	0.622																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(82-84)Ctg>Ttg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						24.0	21.0	22.0					X																	49088333		2172	4249	6421	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49088333G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.82C>T	X.37:g.49088333G>A						CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Silent_p.L28L	p.L28L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			2	143	-			28					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.82C>T	CCDS35253.1																																																																																				0.622	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		19	40	0	0	0	1	0	19	40				
FGF18	8817	broad.mit.edu	37	5	170883635	170883635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170883635C>T	ENST00000274625.5	+	5	994	c.450C>T	c.(448-450)taC>taT	p.Y150Y		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	150					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGGCTGGTACGTGGGCTTCA	0.622																																						ENST00000274625.5																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(448-450)taC>taT		fibroblast growth factor 18							86.0	90.0	89.0					5																	170883635		2203	4300	6503	SO:0001819	synonymous_variant	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883635C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.450C>T	5.37:g.170883635C>T							p.Y150Y	NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	994	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	150					D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.450C>T	CCDS4378.1																																																																																				0.622	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		15	760	0	0	0	1	0	15	760				
MRTO4	51154	broad.mit.edu	37	1	19584466	19584466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19584466G>A	ENST00000330263.4	+	6	778	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	161					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A161T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGCCCTCAAGAG	0.597																																					GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			1	Substitution - Missense(1)	p.A161T(1)	breast(1)	breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(481-483)Gcc>Acc		mRNA turnover 4 homolog (S. cerevisiae)							30.0	35.0	33.0					1																	19584466		2203	4299	6502	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584466G>A	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.481G>A	1.37:g.19584466G>A	ENSP00000364320:p.Ala161Thr						p.A161T	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	778	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	161					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.481G>A	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279836	0.10458	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	1.97	0.26223	.	0.139242	0.64402	N	0.000004	T	0.38931	0.1059	N	0.20574	0.59	0.52501	D	0.999956	B	0.13145	0.007	B	0.06405	0.002	T	0.11012	-1.0605	9	0.44086	T	0.13	-9.6924	9.8397	0.40991	0.1362:0.0:0.7458:0.118	.	161	Q9UKD2	MRT4_HUMAN	T	161	.	ENSP00000364320:A161T	A	+	1	0	MRTO4	19457053	0.997000	0.39634	0.724000	0.30704	0.002000	0.02628	2.484000	0.45242	0.114000	0.18032	-0.940000	0.02684	GCC		0.597	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		55	256	0	0	0	1	0	55	256				
DCHS2	54798	broad.mit.edu	37	4	155156635	155156635	+	Missense_Mutation	SNP	C	C	T	rs373906914		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156635C>T	ENST00000357232.4	-	25	7803	c.7804G>A	c.(7804-7806)Gac>Aac	p.D2602N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2602					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACTGCAGTCGTCAGTTTTC	0.448																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7804-7806)Gac>Aac		dachsous cadherin-related 2		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	123.0	125.0	125.0		7804	4.8	0.0	4		125	0,8600		0,0,4300	no	missense	DCHS2	NM_017639.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2602/2917	155156635	1,13005	2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156635C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7804G>A	4.37:g.155156635C>T	ENSP00000349768:p.Asp2602Asn						p.D2602N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7803	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2602					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7804G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	2.701	-0.271019	0.05716	2.27E-4	0.0	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.6	4.76	0.60689	.	0.640826	0.15264	N	0.271617	T	0.32882	0.0844	L	0.34521	1.04	0.23243	N	0.998056	B	0.26602	0.154	B	0.14023	0.01	T	0.15492	-1.0435	10	0.19147	T	0.46	.	9.2146	0.37339	0.0:0.7928:0.0:0.2072	.	2602	Q6V1P9	PCD23_HUMAN	N	2602	ENSP00000349768:D2602N	ENSP00000349768:D2602N	D	-	1	0	DCHS2	155376085	0.001000	0.12720	0.008000	0.14137	0.043000	0.13939	1.139000	0.31504	1.373000	0.46208	0.467000	0.42956	GAC		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		111	481	0	0	0	1	0	111	481				
FKBP7	51661	broad.mit.edu	37	2	179341872	179341872	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179341872T>G	ENST00000424785.2	-	2	348	c.290A>C	c.(289-291)gAc>gCc	p.D97A	FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	97	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CATAGCAATGTCTAGGCCTTT	0.398																																					Melanoma(26;682 927 5286 17599 46613)	ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(289-291)gAc>gCc		FK506 binding protein 7							91.0	91.0	91.0					2																	179341872		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179341872T>G	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.290A>C	2.37:g.179341872T>G	ENSP00000413152:p.Asp97Ala					FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A|FKBP7_ENST00000464248.1_5'UTR	p.D97A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		2	348	-			97			PPIase FKBP-type.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.290A>C	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677742	0.88445	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.58797	0.31;0.31	5.82	5.82	0.92795	.	0.042037	0.85682	D	0.000000	T	0.81394	0.4813	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.959;0.998	D	0.85766	0.1352	10	0.87932	D	0	-2.8742	16.19	0.81981	0.0:0.0:0.0:1.0	.	97;97;97	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	A	97	ENSP00000413152:D97A;ENSP00000415486:D97A	ENSP00000233092:D97A	D	-	2	0	FKBP7	179050118	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.698000	0.84413	2.225000	0.72522	0.460000	0.39030	GAC		0.398	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		13	491	0	0	0	1	0	13	491				
SLC22A3	6581	broad.mit.edu	37	6	160858187	160858187	+	Missense_Mutation	SNP	C	C	T	rs537020286		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858187C>T	ENST00000275300.2	+	7	1384	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A411V	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	411					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CTCCCCTTTGCGGCAAGCAAT	0.502																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1231-1233)gCg>gTg		solute carrier family 22 (organic cation transporter), member 3							140.0	144.0	142.0					6																	160858187		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160858187C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1232C>T	6.37:g.160858187C>T	ENSP00000275300:p.Ala411Val					SLC22A3_ENST00000275300.2_Missense_Mutation_p.A411V	p.A411V			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	7	1259	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	411					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.1232C>T	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495541	0.64186	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.58652	0.32;0.47	5.83	5.83	0.93111	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.63843	1.955	0.35287	D	0.78182	D	0.60160	0.987	P	0.45232	0.474	T	0.54899	-0.8224	10	0.41790	T	0.15	.	12.5881	0.56428	0.0:0.9242:0.0:0.0758	.	411	O75751	S22A3_HUMAN	V	411	ENSP00000275300:A411V;ENSP00000375989:A411V	ENSP00000275300:A411V	A	+	2	0	SLC22A3	160778177	0.987000	0.35691	0.000000	0.03702	0.974000	0.67602	2.768000	0.47645	2.756000	0.94617	0.655000	0.94253	GCG		0.502	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		159	757	0	0	0	1	0	159	757				
TRPC1	7220	broad.mit.edu	37	3	142443464	142443464	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142443464C>A	ENST00000476941.1	+	1	549	c.63C>A	c.(61-63)tcC>tcA	p.S21S	TRPC1_ENST00000273482.6_Silent_p.S21S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	21					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ccctgccttcctctccatcct	0.642																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(61-63)tcC>tcA		transient receptor potential cation channel, subfamily C, member 1							79.0	72.0	74.0					3																	142443464		2203	4300	6503	SO:0001819	synonymous_variant	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142443464C>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.63C>A	3.37:g.142443464C>A						TRPC1_ENST00000476941.1_Silent_p.S21S	p.S21S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			1	454	+			21					Q14CE4	Silent	SNP	ENST00000476941.1	37	c.63C>A	CCDS58856.1																																																																																				0.642	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		32	99	1	0	1.88708e-17	1	2.08396e-17	32	99				
HDAC7	51564	broad.mit.edu	37	12	48188548	48188548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188548G>A	ENST00000427332.2	-	12	1492	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000080059.7_Missense_Mutation_p.P485S|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S|HDAC7_ENST00000488927.1_5'Flank			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	446	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CATACCTGAGGGTGCTGCTGG	0.657																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1453-1455)Cct>Tct		histone deacetylase 7							30.0	33.0	32.0					12																	48188548		2203	4300	6503	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48188548G>A	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1336C>T	12.37:g.48188548G>A	ENSP00000404394:p.Pro446Ser					HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000427332.2_Missense_Mutation_p.P446S	p.P485S	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	12	1452	-			446			Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1453C>T		.	.	.	.	.	.	.	.	.	.	G	4.617	0.114730	0.08831	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.53206	0.64;0.64;0.65;0.63;0.65	4.9	4.9	0.64082	.	0.653207	0.14765	N	0.299758	T	0.27027	0.0662	N	0.08118	0	0.20307	N	0.999919	B;B;B	0.17852	0.024;0.007;0.011	B;B;B	0.17433	0.018;0.012;0.013	T	0.07597	-1.0764	10	0.11485	T	0.65	.	12.9805	0.58562	0.0:0.0:0.8377:0.1623	.	485;468;448	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	S	485;448;468;502;446	ENSP00000080059:P485S;ENSP00000351326:P448S;ENSP00000448532:P468S;ENSP00000369984:P502S;ENSP00000404394:P446S	ENSP00000080059:P485S	P	-	1	0	HDAC7	46474815	1.000000	0.71417	0.999000	0.59377	0.275000	0.26752	6.763000	0.74955	2.418000	0.82041	0.563000	0.77884	CCT		0.657	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			47	223	0	0	0	1	0	47	223				
PADI6	353238	broad.mit.edu	37	1	17722154	17722154	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17722154C>T	ENST00000434762.2	+	0	1664							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCTCCTGTCTAATGGTAAG	0.502																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)						30.0	31.0	31.0					1																	17722154		1972	4152	6124			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17722154C>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17722154C>T										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1664	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.502	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		7	62	0	0	0	1	0	7	62				
CPNE3	8895	broad.mit.edu	37	8	87549859	87549859	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87549859G>T	ENST00000521271.1	+	7	690	c.528G>T	c.(526-528)atG>atT	p.M176I	CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	176	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ACTGGCTAATGGTTCATCGGA	0.328																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(526-528)atG>atT		copine III							131.0	119.0	123.0					8																	87549859		2203	4300	6503	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87549859G>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.528G>T	8.37:g.87549859G>T	ENSP00000430934:p.Met176Ile					CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	p.M176I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			7	690	+			176			C2 2.		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.528G>T	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809466	0.31961	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	T;T;T	0.38077	1.16;1.16;1.16	5.63	5.63	0.86233	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.089993	0.85682	D	0.000000	T	0.22742	0.0549	N	0.16166	0.38	0.53688	D	0.999978	B	0.02656	0.0	B	0.04013	0.001	T	0.06789	-1.0807	10	0.22706	T	0.39	-23.7135	13.9088	0.63853	0.0727:0.0:0.9273:0.0	.	176	O75131	CPNE3_HUMAN	I	176	ENSP00000198765:M176I;ENSP00000430934:M176I;ENSP00000427791:M176I	ENSP00000198765:M176I	M	+	3	0	CPNE3	87618975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.463000	0.66712	2.644000	0.89710	0.655000	0.94253	ATG		0.328	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			83	341	1	0	1.6246e-59	1	2.04043e-59	83	341				
ARPC5	10092	broad.mit.edu	37	1	183604754	183604754	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183604754A>G	ENST00000359856.6	-	1	107	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A|RGL1_ENST00000536277.1_5'Flank|ARPC5_ENST00000462965.1_5'Flank	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	14					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						ATCCACGTCCACCTTCCGGAA	0.632																																					Melanoma(136;1596 1789 3041 4830 41075)	ENST00000359856.6																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(40-42)gTg>gCg		actin related protein 2/3 complex, subunit 5, 16kDa							91.0	70.0	77.0					1																	183604754		2203	4300	6503	SO:0001583	missense	10092				actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr1:183604754A>G	AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.41T>C	1.37:g.183604754A>G	ENSP00000352918:p.Val14Ala					ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A|ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A	p.V14A	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN			1	107	-			14					A6NEC4|Q6PG42	Missense_Mutation	SNP	ENST00000359856.6	37	c.41T>C	CCDS1357.1	.	.	.	.	.	.	.	.	.	.	A	35	5.562476	0.96527	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.85197	2.74	0.58432	D	0.999996	P	0.51653	0.947	P	0.56865	0.808	T	0.82200	-0.0575	9	0.87932	D	0	-25.9632	14.6726	0.68956	1.0:0.0:0.0:0.0	.	14	O15511	ARPC5_HUMAN	A	14	.	ENSP00000294742:V14A	V	-	2	0	ARPC5	181871377	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.656000	0.91102	2.116000	0.64780	0.482000	0.46254	GTG		0.632	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	NM_005717		51	332	0	0	0	1	0	51	332				
TMEM174	134288	broad.mit.edu	37	5	72469182	72469182	+	Missense_Mutation	SNP	G	G	A	rs576661140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72469182G>A	ENST00000296776.5	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	38						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CAAGGCGGGGGCCACCTTGCT	0.557																																						ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(112-114)Gcc>Acc		transmembrane protein 174							159.0	148.0	152.0					5																	72469182		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469182G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.112G>A	5.37:g.72469182G>A	ENSP00000296776:p.Ala38Thr					TMEM174_ENST00000511737.1_3'UTR	p.A38T	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	161	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	38					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.112G>A	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844751	0.71603	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.91	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.29908	0.895	0.44603	D	0.997579	P	0.41450	0.75	B	0.40677	0.337	T	0.30001	-0.9993	9	0.36615	T	0.2	-3.8862	11.5914	0.50947	0.1854:0.0:0.8146:0.0	.	38	Q8WUU8	TM174_HUMAN	T	38	.	ENSP00000296776:A38T	A	+	1	0	TMEM174	72504938	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.344000	0.59354	1.530000	0.49136	-0.119000	0.15052	GCC		0.557	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		86	1040	0	0	0	1	0	86	1040				
CTNNB1	1499	broad.mit.edu	37	3	41275096	41275096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275096C>T	ENST00000349496.5	+	9	1542	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	421					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACCTGTGCAGCTGGAATTCTT	0.453		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1261-1263)gCt>gTt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						158.0	154.0	155.0					3																	41275096		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275096C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1262C>T	3.37:g.41275096C>T	ENSP00000344456:p.Ala421Val					CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V	p.A421V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1542	+			421					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1262C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780016	0.70222	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.74881	2.28	0.80722	D	1	B;B;B	0.26547	0.152;0.078;0.152	B;B;B	0.24394	0.053;0.023;0.032	T	0.61123	-0.7126	10	0.30854	T	0.27	-15.8016	20.1865	0.98220	0.0:1.0:0.0:0.0	.	349;414;421	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	V	421;421;421;414;421	ENSP00000385604:A421V;ENSP00000379486:A421V;ENSP00000344456:A421V;ENSP00000411226:A414V;ENSP00000379488:A421V	ENSP00000344456:A421V	A	+	2	0	CTNNB1	41250100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	GCT		0.453	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		160	809	0	0	0	1	0	160	809				
USP48	84196	broad.mit.edu	37	1	22078012	22078012	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22078012C>A	ENST00000308271.9	-	6	1410	c.762G>T	c.(760-762)tcG>tcT	p.S254S	USP48_ENST00000400301.1_Silent_p.S254S|USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000529637.1_Silent_p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	254	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.S254S(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCAAAAATTCCGAGATACAAT	0.358																																						ENST00000308271.9																			1	Substitution - coding silent(1)	p.S254S(1)	lung(1)	NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(760-762)tcG>tcT		ubiquitin specific peptidase 48							110.0	115.0	113.0					1																	22078012		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22078012C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.762G>T	1.37:g.22078012C>A						USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000529637.1_Silent_p.S254S|USP48_ENST00000400301.1_Silent_p.S254S	p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	6	1410	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	254					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.762G>T	CCDS30623.1																																																																																				0.358	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		8	432	1	0	0.00307968	1	0.00310409	8	432				
SDK2	54549	broad.mit.edu	37	17	71354234	71354234	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71354234G>A	ENST00000392650.3	-	40	5577	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I	SDK2_ENST00000388726.3_Silent_p.I1840I|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1859	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCTGGCCTCGATGACGTAGC	0.647																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(5575-5577)atC>atT		sidekick cell adhesion molecule 2							150.0	142.0	144.0					17																	71354234		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71354234G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5577C>T	17.37:g.71354234G>A						SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.I1840I	p.I1859I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			40	5577	-			1859			Fibronectin type-III 13.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.5577C>T	CCDS45769.1																																																																																				0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		194	874	0	0	0	1	0	194	874				
ADCY10	55811	broad.mit.edu	37	1	167847775	167847775	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167847775C>A	ENST00000367851.4	-	12	1499	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	ADCY10_ENST00000367848.1_Missense_Mutation_p.A347S|ADCY10_ENST00000545172.1_Missense_Mutation_p.A286S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	439					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAAAGTACGCTGGTAGGTTG	0.443																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1039-1041)Gcg>Tcg		adenylate cyclase 10 (soluble)							98.0	94.0	96.0					1																	167847775		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167847775C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1315G>T	1.37:g.167847775C>A	ENSP00000356825:p.Ala439Ser					ADCY10_ENST00000545172.1_Missense_Mutation_p.A286S|ADCY10_ENST00000367851.4_Missense_Mutation_p.A439S	p.A347S			Q96PN6	ADCYA_HUMAN			12	1536	-			439			Guanylate cyclase 2.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1039G>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319191	0.23994	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30714	1.52;1.55;1.52	5.38	-4.36	0.03645	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.664905	0.14561	N	0.312051	T	0.02688	0.0081	N	0.11201	0.11	0.29437	N	0.8594269999999999	B;B;B	0.14438	0.01;0.01;0.006	B;B;B	0.17979	0.02;0.006;0.003	T	0.39231	-0.9624	9	0.15066	T	0.55	-5.9662	0.2013	0.00145	0.2958:0.2374:0.2293:0.2376	.	286;347;439	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	S	286;439;347	ENSP00000441992:A286S;ENSP00000356825:A439S;ENSP00000356822:A347S	ENSP00000356822:A347S	A	-	1	0	ADCY10	166114399	0.325000	0.24660	0.978000	0.43139	0.881000	0.50899	-0.347000	0.07750	-0.424000	0.07382	-0.824000	0.03097	GCG		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		11	423	1	0	3.86212e-05	1	3.93988e-05	11	423				
OBSCN	84033	broad.mit.edu	37	1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228504445G>A	ENST00000422127.1	+	51	13365	c.13321G>A	c.(13321-13323)Gcg>Acg	p.A4441T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5398T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4441	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAAAAACGCGGCGGTCCG	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(16192-16194)Gcg>Acg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12.0	16.0	15.0					1																	228504445		1985	4141	6126	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228504445G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13321G>A	1.37:g.228504445G>A	ENSP00000409493:p.Ala4441Thr					OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4441T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T	p.A5398T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			62	16266	+		Prostate(94;0.0405)	4441			Ig-like 51.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.16192G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	15.23	2.773100	0.49680	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.76060	-0.99;-0.99;0.14;0.65	5.14	1.06	0.20224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.577390	0.03472	N	0.213753	T	0.56321	0.1977	N	0.16708	0.43	0.09310	N	1	B;B	0.21381	0.0;0.055	B;B	0.10450	0.0;0.005	T	0.36456	-0.9747	10	0.21014	T	0.42	.	4.1581	0.10270	0.2792:0.0:0.4727:0.2481	.	4441;4441	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4441;4441;2075;1560	ENSP00000284548:A4441T;ENSP00000409493:A4441T;ENSP00000355668:A2075T;ENSP00000355670:A1560T	ENSP00000284548:A4441T	A	+	1	0	OBSCN	226571068	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.003000	0.29809	0.183000	0.20059	-0.247000	0.11927	GCG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	158	0	0	0	1	0	7	158				
TMEM214	54867	broad.mit.edu	37	2	27256991	27256991	+	Missense_Mutation	SNP	C	C	T	rs199619457		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27256991C>T	ENST00000238788.9	+	2	270	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	TMEM214_ENST00000404032.3_Missense_Mutation_p.R70W	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	70					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TATCATGAAGCGGCAGAATAA	0.532																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(208-210)Cgg>Tgg		transmembrane protein 214							95.0	96.0	96.0					2																	27256991		1941	4140	6081	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27256991C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.208C>T	2.37:g.27256991C>T	ENSP00000238788:p.Arg70Trp					TMEM214_ENST00000404032.3_Missense_Mutation_p.R70W	p.R70W	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			2	270	+			70					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.208C>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217661	0.79352	.	.	ENSG00000119777	ENST00000238788;ENST00000535207;ENST00000404032	D;D	0.86627	-2.15;-2.15	5.07	1.71	0.24356	.	0.312621	0.28712	N	0.014400	D	0.84602	0.5508	L	0.36672	1.1	0.27877	N	0.939838	D;D	0.69078	0.997;0.995	P;P	0.50708	0.648;0.639	T	0.79567	-0.1750	10	0.72032	D	0.01	-9.5612	12.3636	0.55217	0.543:0.4569:0.0:0.0	.	70;70	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	W	70	ENSP00000238788:R70W;ENSP00000384417:R70W	ENSP00000238788:R70W	R	+	1	2	TMEM214	27110495	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.689000	0.37700	0.455000	0.26910	0.462000	0.41574	CGG		0.532	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		18	516	0	0	0	1	0	18	516				
HHIP	64399	broad.mit.edu	37	4	145658990	145658990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145658990C>T	ENST00000296575.3	+	13	2639	c.1984C>T	c.(1984-1986)Ctt>Ttt	p.L662F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	662	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAAAGGATATCTTGGTCCTCA	0.448																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1984-1986)Ctt>Ttt		hedgehog interacting protein							162.0	138.0	146.0					4																	145658990		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145658990C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1984C>T	4.37:g.145658990C>T	ENSP00000296575:p.Leu662Phe						p.L662F	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	13	2639	+	all_hematologic(180;0.151)		662			EGF-like 2.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1984C>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111178	0.77210	.	.	ENSG00000164161	ENST00000296575	T	0.66995	-0.24	5.61	5.61	0.85477	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.099589	0.64402	D	0.000020	T	0.43344	0.1243	N	0.02539	-0.55	0.80722	D	1	P	0.46020	0.871	B	0.41723	0.365	T	0.57093	-0.7870	10	0.62326	D	0.03	-14.2584	12.9061	0.58154	0.0:0.9257:0.0:0.0743	.	662	Q96QV1	HHIP_HUMAN	F	662	ENSP00000296575:L662F	ENSP00000296575:L662F	L	+	1	0	HHIP	145878440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.512000	0.60469	2.634000	0.89283	0.585000	0.79938	CTT		0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			13	385	0	0	0	1	0	13	385				
IGSF22	283284	broad.mit.edu	37	11	18729430	18729430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18729430G>A	ENST00000513874.1	-	20	3340	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R	RP11-1081L13.4_ENST00000527285.1_RNA|IGSF22_ENST00000510673.1_5'Flank	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	672										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGAGTCAGAGCGCTTGGTGC	0.522																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(3199-3201)cgC>cgT		immunoglobulin superfamily, member 22							196.0	167.0	176.0					11																	18729430		692	1591	2283	SO:0001819	synonymous_variant	283284							g.chr11:18729430G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3201C>T	11.37:g.18729430G>A						RP11-1081L13.4_ENST00000527285.1_RNA	p.R1067R	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			20	3340	-			672					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.3201C>T	CCDS41625.2																																																																																				0.522	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		26	160	0	0	0	1	0	26	160				
POM121	9883	broad.mit.edu	37	7	72413259	72413259	+	Silent	SNP	G	G	A	rs187881207	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413259G>A	ENST00000434423.2	+	11	2727	c.2727G>A	c.(2725-2727)acG>acA	p.T909T	POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000395270.1_Silent_p.T644T|POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000257622.4_Silent_p.T644T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side. {ECO:0000255}.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCGTGCCAACGGCCACCAGCA	0.627													.|||	2	0.000399361	0.0	0.0	5008	,	,		18987	0.0		0.002	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1930-1932)acG>acA		POM121 transmembrane nucleoporin							66.0	81.0	76.0					7																	72413259		2107	4261	6368	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413259G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2727G>A	7.37:g.72413259G>A						POM121_ENST00000257622.4_Silent_p.T644T|POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000434423.2_Silent_p.T909T	p.T644T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	2973	+		Lung NSC(55;0.163)	909			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.1932G>A																																																																																					0.627	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			141	282	0	0	0	1	0	141	282				
CLIP1	6249	broad.mit.edu	37	12	122862247	122862247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122862247C>T	ENST00000540338.1	-	2	387	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000358808.2_Missense_Mutation_p.G116S|CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S|CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTAAATATGCCCTTTAAAGGT	0.507																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(346-348)Ggc>Agc		CAP-GLY domain containing linker protein 1							112.0	102.0	105.0					12																	122862247		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862247C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.346G>A	12.37:g.122862247C>T	ENSP00000439093:p.Gly116Ser					CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S|CLIP1_ENST00000540338.1_Missense_Mutation_p.G116S|CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S	p.G116S	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	3	500	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		116			CAP-Gly 1.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.346G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823363	0.96989	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	H	0.99794	4.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99023	1.0818	10	0.87932	D	0	-16.0398	20.0912	0.97820	0.0:1.0:0.0:0.0	.	116;116;116;116	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	S	116	ENSP00000303585:G116S;ENSP00000351665:G116S;ENSP00000445531:G116S;ENSP00000439093:G116S;ENSP00000437786:G116S;ENSP00000441409:G116S	ENSP00000303585:G116S	G	-	1	0	CLIP1	121428200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.696000	0.84270	2.746000	0.94184	0.591000	0.81541	GGC		0.507	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		116	427	0	0	0	1	0	116	427				
HRNR	388697	broad.mit.edu	37	1	152192207	152192207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192207G>A	ENST00000368801.2	-	3	1973	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	633					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCTGGAAGACTGACCTGA	0.577																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1897-1899)tCt>tTt		hornerin							250.0	243.0	245.0					1																	152192207		2203	4297	6500	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192207G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1898C>T	1.37:g.152192207G>A	ENSP00000357791:p.Ser633Phe					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S633F	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1973	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		633					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1898C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.680	0.309977	0.10733	.	.	ENSG00000197915	ENST00000368801	T	0.03982	3.74	3.7	2.77	0.32553	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.56612	0.802	T	0.50516	-0.8819	9	0.25751	T	0.34	.	10.104	0.42521	0.0:0.0:0.7977:0.2023	.	633	Q86YZ3	HORN_HUMAN	F	633	ENSP00000357791:S633F	ENSP00000357791:S633F	S	-	2	0	HRNR	150458831	0.031000	0.19500	0.009000	0.14445	0.002000	0.02628	0.924000	0.28777	0.753000	0.32945	-0.194000	0.12790	TCT		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		268	1522	0	0	0	1	0	268	1522				
SHANK2	22941	broad.mit.edu	37	11	70319395	70319395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319395G>A	ENST00000423696.2	-	16	4028	c.3992C>T	c.(3991-3993)cCt>cTt	p.P1331L	SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGAGACCACAGGGCTTGGGGC	0.622																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5131-5133)cCt>cTt		SH3 and multiple ankyrin repeat domains 2							56.0	57.0	57.0					11																	70319395		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319395G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3992C>T	11.37:g.70319395G>A	ENSP00000394536:p.Pro1331Leu					SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1331L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115L	p.P1711L			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5131	-			1331					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5132C>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148873	0.78001	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.59083	1.8;1.81;2.57;0.29;1.89;1.96	5.91	5.91	0.95273	.	0.047883	0.85682	D	0.000000	T	0.75072	0.3800	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.91635	0.983;0.999;0.757	T	0.74262	-0.3722	10	0.59425	D	0.04	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1331;1710;1115	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	1115;1114;989;1711;1331;1349;1334	ENSP00000399423:P1115L;ENSP00000386491:P1114L;ENSP00000402944:P989L;ENSP00000345193:P1711L;ENSP00000394536:P1331L;ENSP00000294018:P1334L	ENSP00000294018:P1334L	P	-	2	0	SHANK2	69997043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.238000	0.65366	2.799000	0.96334	0.650000	0.86243	CCT		0.622	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		70	317	0	0	0	1	0	70	317				
ARVCF	421	broad.mit.edu	37	22	19969241	19969241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19969241G>A	ENST00000263207.3	-	5	680	c.389C>T	c.(388-390)aCg>aTg	p.T130M	ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	130					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGTGGTCACCGTCTTGACAGT	0.612																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(388-390)aCg>aTg		armadillo repeat gene deleted in velocardiofacial syndrome							31.0	37.0	35.0					22																	19969241		2190	4262	6452	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969241G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.389C>T	22.37:g.19969241G>A	ENSP00000263207:p.Thr130Met					ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M	p.T130M	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	680	-	Colorectal(54;0.0993)		130					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.389C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318548	0.81469	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	P	0.54210	0.745	T	0.47548	-0.9109	9	.	.	.	-17.9505	16.9177	0.86155	0.0:0.0:1.0:0.0	.	130	O00192	ARVC_HUMAN	M	130;67;67;67;130	ENSP00000263207:T130M;ENSP00000342042:T67M;ENSP00000384341:T67M;ENSP00000384732:T67M;ENSP00000385444:T130M	.	T	-	2	0	ARVCF	18349241	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	9.227000	0.95236	2.278000	0.76064	0.551000	0.68910	ACG		0.612	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		76	299	0	0	0	1	0	76	299				
UNC13C	440279	broad.mit.edu	37	15	54307992	54307992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54307992G>T	ENST00000260323.11	+	1	2892	c.2892G>T	c.(2890-2892)aaG>aaT	p.K964N	UNC13C_ENST00000545554.1_Missense_Mutation_p.K964N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	964					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATCACAAAGCCAAAGAGAA	0.413																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2890-2892)aaG>aaT		unc-13 homolog C (C. elegans)							64.0	61.0	62.0					15																	54307992		1853	4093	5946	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307992G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2892G>T	15.37:g.54307992G>T	ENSP00000260323:p.Lys964Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K964N	p.K964N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2892	+			964					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2892G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311224	0.23821	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79940	-1.32;-1.31;-1.32	5.58	4.47	0.54385	.	.	.	.	.	T	0.79161	0.4399	L	0.29908	0.895	0.31722	N	0.638127	D	0.67145	0.996	P	0.54544	0.755	T	0.76531	-0.2925	9	0.25751	T	0.34	.	14.4467	0.67356	0.0835:0.0:0.9165:0.0	.	964	Q8NB66	UN13C_HUMAN	N	964	ENSP00000260323:K964N;ENSP00000438156:K964N;ENSP00000442569:K964N	ENSP00000260323:K964N	K	+	3	2	UNC13C	52095284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.806000	0.47947	2.635000	0.89317	0.650000	0.86243	AAG		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		20	69	1	0	1.22574e-08	1	1.28258e-08	20	69				
NLRX1	79671	broad.mit.edu	37	11	119045408	119045408	+	Missense_Mutation	SNP	G	G	A	rs141429802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045408G>A	ENST00000409109.1	+	6	1683	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T	NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	366	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGATAGCCGCTGCCTGCTT	0.612																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1096-1098)Gct>Act		NLR family member X1		G	THR/ALA,THR/ALA	6,4394	11.4+/-27.6	0,6,2194	73.0	59.0	64.0		1096,1096	3.2	0.0	11	dbSNP_134	64	1,8589	1.2+/-3.3	0,1,4294	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	58,58	0,7,6488	AA,AG,GG		0.0116,0.1364,0.0539	benign,benign	366/976,366/922	119045408	7,12983	2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045408G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1096G>A	11.37:g.119045408G>A	ENSP00000387334:p.Ala366Thr					NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T	p.A366T			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1683	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	366			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.1096G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984415	0.18889	0.001364	1.16E-4	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70399	-0.38;-0.38;-0.48;-0.38;-0.48	6.07	3.22	0.36961	.	0.070594	0.64402	N	0.000017	T	0.48607	0.1509	N	0.16201	0.385	0.38241	D	0.941324	B;B	0.30793	0.295;0.108	B;B	0.23419	0.046;0.024	T	0.39522	-0.9610	10	0.20046	T	0.44	.	11.405	0.49892	0.1942:0.0:0.8058:0.0	.	366;366	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	T	366	ENSP00000386851:A366T;ENSP00000292199:A366T;ENSP00000386858:A366T;ENSP00000387334:A366T;ENSP00000433442:A366T	ENSP00000292199:A366T	A	+	1	0	NLRX1	118550618	0.997000	0.39634	0.007000	0.13788	0.320000	0.28249	3.053000	0.49901	0.459000	0.27016	0.655000	0.94253	GCT		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		12	400	0	0	0	1	0	12	400				
RANBP1	5902	broad.mit.edu	37	22	20112936	20112936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20112936C>T	ENST00000331821.3	+	4	518	c.416C>T	c.(415-417)gCc>gTc	p.A139V	RANBP1_ENST00000430524.1_Missense_Mutation_p.A49V|RANBP1_ENST00000402752.1_Missense_Mutation_p.A139V|SNORA77_ENST00000578179.1_RNA	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	139	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					GAGCTGCTGGCCATCCGCTTC	0.632																																						ENST00000430524.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(145-147)gCc>gTc		RAN binding protein 1							27.0	24.0	25.0					22																	20112936		2201	4298	6499	SO:0001583	missense	5902				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding	g.chr22:20112936C>T	D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.416C>T	22.37:g.20112936C>T	ENSP00000327583:p.Ala139Val					RANBP1_ENST00000402752.1_Missense_Mutation_p.A139V|RANBP1_ENST00000331821.3_Missense_Mutation_p.A139V	p.A49V			P43487	RANG_HUMAN			5	977	+	Colorectal(54;0.0993)		139			RanBD1.		Q53EY3	Missense_Mutation	SNP	ENST00000331821.3	37	c.146C>T	CCDS13775.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727931	0.96856	.	.	ENSG00000099901	ENST00000430524;ENST00000402752;ENST00000447917;ENST00000331821;ENST00000411892;ENST00000423859;ENST00000418705;ENST00000448394	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.5	5.5	0.81552	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.78628	-0.2130	10	0.66056	D	0.02	-26.6123	19.3923	0.94587	0.0:1.0:0.0:0.0	.	139;139;139	B4DE76;Q53EY3;P43487	.;.;RANG_HUMAN	V	49;139;126;139;139;89;89;66	ENSP00000401564:A49V;ENSP00000384925:A139V;ENSP00000327583:A139V;ENSP00000395472:A139V;ENSP00000404298:A89V;ENSP00000413502:A89V;ENSP00000398300:A66V	ENSP00000327583:A139V	A	+	2	0	RANBP1	18492936	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.629000	0.83207	2.588000	0.87417	0.585000	0.79938	GCC		0.632	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	NM_002882		17	60	0	0	0	1	0	17	60				
GEMIN8	54960	broad.mit.edu	37	X	14038477	14038477	+	Missense_Mutation	SNP	G	G	T	rs137990246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14038477G>T	ENST00000380523.4	-	4	510	c.192C>A	c.(190-192)agC>agA	p.S64R	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	64					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TATCGTAAGAGCTTTGGGGAA	0.498																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(190-192)agC>agA		gem (nuclear organelle) associated protein 8							131.0	114.0	120.0					X																	14038477		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038477G>T	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.192C>A	X.37:g.14038477G>T	ENSP00000369895:p.Ser64Arg					GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R	p.S64R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			4	510	-			64					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.192C>A	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	g	8.948	0.967554	0.18659	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.46819	0.86;0.86;0.86	5.15	3.35	0.38373	.	0.471114	0.25978	N	0.027094	T	0.31167	0.0788	L	0.38175	1.15	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.13229	-1.0517	10	0.33940	T	0.23	.	3.0956	0.06308	0.1643:0.1332:0.5638:0.1387	.	64	Q9NWZ8	GEMI8_HUMAN	R	64	ENSP00000369895:S64R;ENSP00000381398:S64R;ENSP00000369894:S64R	ENSP00000369894:S64R	S	-	3	2	GEMIN8	13948398	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.217000	0.09253	0.975000	0.38392	-0.306000	0.09157	AGC		0.498	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		138	488	1	0	1.36427e-64	1	1.72405e-64	138	488				
FCGBP	8857	broad.mit.edu	37	19	40421334	40421334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40421334T>C	ENST00000221347.6	-	5	2594	c.2587A>G	c.(2587-2589)Acc>Gcc	p.T863A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	863	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTGGCAGGTCCCGAAGCGA	0.682																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2587-2589)Acc>Gcc		Fc fragment of IgG binding protein							20.0	21.0	20.0					19																	40421334		2199	4298	6497	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40421334T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2587A>G	19.37:g.40421334T>C	ENSP00000221347:p.Thr863Ala						p.T863A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		5	2594	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		863			VWFD 2.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2587A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436705	0.43224	.	.	ENSG00000090920	ENST00000221347	T	0.21191	2.02	4.06	4.06	0.47325	von Willebrand factor, type D domain (2);	0.536654	0.16074	N	0.230839	T	0.36771	0.0979	M	0.91872	3.25	0.24075	N	0.995967	B	0.29571	0.249	B	0.37601	0.254	T	0.35968	-0.9767	10	0.18710	T	0.47	.	12.4173	0.55500	0.0:0.0:0.0:1.0	.	863	Q9Y6R7	FCGBP_HUMAN	A	863	ENSP00000221347:T863A	ENSP00000221347:T863A	T	-	1	0	FCGBP	45113174	0.001000	0.12720	0.092000	0.20876	0.195000	0.23768	0.973000	0.29422	1.845000	0.53610	0.402000	0.26972	ACC		0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	78	0	0	0	1	0	19	78				
SOCS3	9021	broad.mit.edu	37	17	76354664	76354664	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76354664G>A	ENST00000330871.2	-	2	928	c.513C>T	c.(511-513)ggC>ggT	p.G171G	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	171					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GGATCTTCTCGCCCCCGGAGT	0.637																																						ENST00000330871.2																			0				kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6						c.(511-513)ggC>ggT		suppressor of cytokine signaling 3							29.0	32.0	31.0					17																	76354664		2202	4299	6501	SO:0001819	synonymous_variant	0				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	g.chr17:76354664G>A	AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.513C>T	17.37:g.76354664G>A							p.G171G	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)		2	928	-			171					O14509	Silent	SNP	ENST00000330871.2	37	c.513C>T	CCDS11756.1																																																																																				0.637	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			8	275	0	0	0	1	0	8	275				
SLC50A1	55974	broad.mit.edu	37	1	155110570	155110570	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155110570T>G	ENST00000368404.4	+	5	622	c.560T>G	c.(559-561)aTc>aGc	p.I187S	SLC50A1_ENST00000303343.8_Missense_Mutation_p.I133S|SLC50A1_ENST00000368401.5_Missense_Mutation_p.I132S|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Missense_Mutation_p.I122S	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	187	Mediates interaction with TRPV2. {ECO:0000250}.|MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						GATCCCTATATCATGGTAAGC	0.498																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(559-561)aTc>aGc		solute carrier family 50 (sugar efflux transporter), member 1							152.0	138.0	143.0					1																	155110570		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110570T>G	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.560T>G	1.37:g.155110570T>G	ENSP00000357389:p.Ile187Ser					SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.I133S|SLC50A1_ENST00000484157.1_Missense_Mutation_p.I122S|SLC50A1_ENST00000368401.5_Missense_Mutation_p.I132S	p.I187S	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			5	622	+			187			Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.560T>G	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101238	0.76983	.	.	ENSG00000169241	ENST00000484157;ENST00000303343;ENST00000368404;ENST00000368401	.	.	.	4.97	3.84	0.44239	.	0.048105	0.85682	D	0.000000	T	0.81607	0.4858	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.996;0.997	D	0.84809	0.0789	9	0.87932	D	0	-34.257	9.1452	0.36928	0.0:0.0874:0.0:0.9126	.	133;132;187	Q9BRV3-3;Q9BRV3-2;Q9BRV3	.;.;SWET1_HUMAN	S	122;133;187;132	.	ENSP00000306146:I133S	I	+	2	0	SLC50A1	153377194	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.204000	0.72143	1.020000	0.39573	0.533000	0.62120	ATC		0.498	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		20	418	0	0	0	1	0	20	418				
ATF6B	1388	broad.mit.edu	37	6	32095235	32095235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095235G>A	ENST00000375203.3	-	3	266	c.234C>T	c.(232-234)ctC>ctT	p.L78L	ATF6B_ENST00000375201.4_Silent_p.L75L|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	78	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGATCGGCAGGAGTTCCCATG	0.522																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(223-225)ctC>ctT		activating transcription factor 6 beta							33.0	34.0	34.0					6																	32095235		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32095235G>A		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.234C>T	6.37:g.32095235G>A						ATF6B_ENST00000375203.3_Silent_p.L78L|ATF6B_ENST00000468502.1_5'UTR	p.L75L			Q99941	ATF6B_HUMAN			3	270	-			78			Transcription activation.		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.225C>T	CCDS4737.1																																																																																				0.522	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			12	157	0	0	0	1	0	12	157				
ATP1A1	476	broad.mit.edu	37	1	116943830	116943830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116943830G>A	ENST00000295598.5	+	20	3049	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N|ATP1A1_ENST00000537345.1_Missense_Mutation_p.D933N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	933					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GCAGTGGGCCGACTTGGTCAT	0.507																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(2797-2799)Gac>Aac		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						90.0	82.0	85.0					1																	116943830		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116943830G>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2797G>A	1.37:g.116943830G>A	ENSP00000295598:p.Asp933Asn					ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.D933N	p.D933N	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	20	3160	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	933					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.2797G>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709734	0.96821	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	L	0.59967	1.855	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.62649	0.846;0.905	D	0.95486	0.8565	10	0.56958	D	0.05	.	18.3091	0.90193	0.0:0.0:1.0:0.0	.	933;933	F5H3A1;P05023	.;AT1A1_HUMAN	N	933;102;933;902;100	ENSP00000295598:D933N;ENSP00000445306:D933N;ENSP00000358508:D902N;ENSP00000396236:D100N	ENSP00000295598:D933N	D	+	1	0	ATP1A1	116745353	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.657000	0.98554	2.640000	0.89533	0.591000	0.81541	GAC		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		14	186	0	0	0	1	0	14	186				
GPAT2	150763	broad.mit.edu	37	2	96688928	96688928	+	Missense_Mutation	SNP	C	C	T	rs551982593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688928C>T	ENST00000434632.1	-	20	2534	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	GPAT2_ENST00000453542.1_Missense_Mutation_p.R621H|GPAT2_ENST00000377137.3_Intron|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.R692H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	692					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCTGAGCAGGCGGCAGAGGAA	0.652													.|||	1	0.000199681	0.0	0.0014	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.0					ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2074-2076)cGc>cAc		glycerol-3-phosphate acyltransferase 2, mitochondrial							13.0	17.0	16.0					2																	96688928		1817	4047	5864	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688928C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2075G>A	2.37:g.96688928C>T	ENSP00000389395:p.Arg692His					GPAT2_ENST00000453542.1_Missense_Mutation_p.R621H|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Missense_Mutation_p.R692H	p.R692H			Q6NUI2	GPAT2_HUMAN			20	2534	-			692					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2075G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	17.52	3.411002	0.62399	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.80123	-1.34;-1.34;-0.36	5.44	5.44	0.79542	.	0.381151	0.27411	N	0.019488	D	0.87807	0.6270	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.89917	1.0;0.965;0.953;0.999	D;B;B;D	0.70716	0.97;0.374;0.267;0.957	D	0.87059	0.2152	10	0.44086	T	0.13	-11.9956	16.7485	0.85479	0.0:1.0:0.0:0.0	.	621;698;692;621	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	H	692;692;621	ENSP00000352547:R692H;ENSP00000389395:R692H;ENSP00000393770:R621H	ENSP00000352547:R692H	R	-	2	0	GPAT2	96052655	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.011000	0.49567	2.569000	0.86673	0.637000	0.83480	CGC		0.652	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	91	0	0	0	1	0	6	91				
SHMT1	6470	broad.mit.edu	37	17	18232655	18232655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18232655C>A	ENST00000316694.3	-	11	1353	c.1219G>T	c.(1219-1221)Gca>Tca	p.A407S	SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S|SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S|SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	407					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	GACGTCAGTGCTGGGGTCCCC	0.502																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(1219-1221)Gca>Tca		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						47.0	49.0	48.0					17																	18232655		2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18232655C>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1219G>T	17.37:g.18232655C>A	ENSP00000318868:p.Ala407Ser					SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S|SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S|SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S	p.A407S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			11	1353	-			407					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.1219G>T	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519860	0.96416	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.55588	0.51;1.22;0.51;1.22	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	0.988;1.0	D	0.83833	0.0253	10	0.87932	D	0	-14.926	19.7926	0.96466	0.0:1.0:0.0:0.0	.	368;407	P34896-2;P34896	.;GLYC_HUMAN	S	407;182;327;269;368	ENSP00000318868:A407S;ENSP00000345881:A327S;ENSP00000440089:A269S;ENSP00000318805:A368S	ENSP00000318868:A407S	A	-	1	0	SHMT1	18173380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.761000	0.94854	0.655000	0.94253	GCA		0.502	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		53	159	1	0	7.89702e-26	1	9.07718e-26	53	159				
STX12	23673	broad.mit.edu	37	1	28120075	28120075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28120075G>A	ENST00000373943.4	+	3	345	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	74					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCAGCTCGCCAAGGAAAC	0.388																																					Ovarian(5;5 342 2097 9488 34083)	ENST00000373943.4																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8						c.(220-222)Gcc>Acc		syntaxin 12							141.0	127.0	132.0					1																	28120075		2203	4300	6503	SO:0001583	missense	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28120075G>A	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.220G>A	1.37:g.28120075G>A	ENSP00000363054:p.Ala74Thr					STX12_ENST00000468761.1_3'UTR	p.A74T	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	3	345	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	74					B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	37	c.220G>A	CCDS310.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398737	0.96030	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.32272	1.46	5.49	5.49	0.81192	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.86028	2.79	0.44012	D	0.996725	D	0.63046	0.992	D	0.66979	0.948	T	0.65557	-0.6139	10	0.56958	D	0.05	-3.8443	19.3786	0.94521	0.0:0.0:1.0:0.0	.	74	Q86Y82	STX12_HUMAN	T	74	ENSP00000363054:A74T	ENSP00000363054:A74T	A	+	1	0	STX12	27992662	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.327000	0.96396	2.584000	0.87258	0.555000	0.69702	GCC		0.388	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		9	228	0	0	0	1	0	9	228				
RAD51C	5889	broad.mit.edu	37	17	56772420	56772420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56772420G>A	ENST00000337432.4	+	2	345	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K|RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	92	Interaction with RAD51B, RAD51D and XRCC3.|Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACTTCTTGAGCAGGAGCA	0.418								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													ENST00000337432.4																			0				upper_aerodigestive_tract(1)	1						c.(274-276)Gag>Aag	Homologous recombination	RAD51 paralog C							103.0	94.0	97.0					17																	56772420		2203	4300	6503	SO:0001583	missense	5889	Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56772420G>A	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.274G>A	17.37:g.56772420G>A	ENSP00000336701:p.Glu92Lys					RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K|RAD51C_ENST00000487921.1_3'UTR	p.E92K	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN			2	345	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		92					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.274G>A	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306102	0.60305	.	.	ENSG00000108384	ENST00000337432;ENST00000421782;ENST00000425173	T;T;T	0.38887	1.11;1.4;1.11	5.65	5.65	0.86999	DNA recombination and repair protein Rad51, C-terminal (1);	0.194459	0.56097	D	0.000035	T	0.39332	0.1074	L	0.46947	1.48	0.40003	D	0.975195	B;B;B	0.24186	0.099;0.026;0.003	B;B;B	0.25987	0.036;0.065;0.015	T	0.20672	-1.0268	10	0.15499	T	0.54	-12.4417	18.3036	0.90172	0.0:0.0:1.0:0.0	.	83;92;92	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	K	92;92;24	ENSP00000336701:E92K;ENSP00000391450:E92K;ENSP00000407282:E24K	ENSP00000336701:E92K	E	+	1	0	RAD51C	54127419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.660000	0.90430	0.655000	0.94253	GAG		0.418	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		74	262	0	0	0	1	0	74	262				
ANKS3	124401	broad.mit.edu	37	16	4774778	4774778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4774778C>A	ENST00000304283.4	-	6	840	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	182										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCACGATTATCTCATGGCCAG	0.438																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(544-546)gaG>gaT		ankyrin repeat and sterile alpha motif domain containing 3							81.0	71.0	74.0					16																	4774778		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4774778C>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.546G>T	16.37:g.4774778C>A	ENSP00000304586:p.Glu182Asp					ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D|ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D	p.E182D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			6	840	-			182					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.546G>T	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787099	0.70337	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.65549	-0.16;-0.1	5.51	-0.996	0.10218	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	L	0.48642	1.525	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.64922	-0.6293	10	0.40728	T	0.16	-3.7901	11.9999	0.53224	0.0:0.6751:0.0:0.3249	.	182	Q6ZW76	ANKS3_HUMAN	D	182;53	ENSP00000304586:E182D;ENSP00000406796:E53D	ENSP00000304586:E182D	E	-	3	2	ANKS3	4714779	1.000000	0.71417	0.763000	0.31416	0.888000	0.51559	0.937000	0.28951	-0.032000	0.13758	-0.345000	0.07892	GAG		0.438	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		11	218	1	0	3.86212e-05	1	3.93988e-05	11	218				
MMRN2	79812	broad.mit.edu	37	10	88703517	88703517	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703517T>G	ENST00000372027.5	-	6	1345	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	342					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGCCTTGTGCAGCCTC	0.647																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1024-1026)Aag>Cag		multimerin 2							56.0	59.0	58.0					10																	88703517		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88703517T>G	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1024A>C	10.37:g.88703517T>G	ENSP00000361097:p.Lys342Gln						p.K342Q	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1097	-			342					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1024A>C	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947118	0.53186	.	.	ENSG00000173269	ENST00000372027	T	0.70164	-0.46	4.96	4.96	0.65561	.	0.221156	0.34603	N	0.003839	T	0.76521	0.3999	M	0.72894	2.215	0.09310	N	1	D;D	0.76494	0.995;0.999	D;D	0.66084	0.941;0.941	T	0.67397	-0.5681	10	0.28530	T	0.3	-38.1567	10.4972	0.44785	0.0:0.0:0.1627:0.8372	.	281;342	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	Q	342	ENSP00000361097:K342Q	ENSP00000361097:K342Q	K	-	1	0	MMRN2	88693497	.	.	0.133000	0.22050	0.927000	0.56198	.	.	1.859000	0.53934	0.379000	0.24179	AAG		0.647	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		57	243	0	0	0	1	0	57	243				
TEC	7006	broad.mit.edu	37	4	48147173	48147173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48147173C>T	ENST00000381501.3	-	14	1550	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCAGCAGTACGTCTCTACTG	0.478																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1393-1395)Gta>Ata		tec protein tyrosine kinase							211.0	186.0	194.0					4																	48147173		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48147173C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1393G>A	4.37:g.48147173C>T	ENSP00000370912:p.Val465Ile					TEC_ENST00000511471.2_5'UTR	p.V465I	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			14	1550	-			465			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1393G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964254	0.18583	.	.	ENSG00000135605	ENST00000381501	D	0.82433	-1.61	5.61	-6.45	0.01914	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.303290	0.04815	N	0.435902	T	0.65365	0.2684	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52990	-0.8501	10	0.33940	T	0.23	.	11.6645	0.51366	0.0824:0.2632:0.0:0.6544	.	465	P42680	TEC_HUMAN	I	465	ENSP00000370912:V465I	ENSP00000370912:V465I	V	-	1	0	TEC	47841930	0.000000	0.05858	0.010000	0.14722	0.975000	0.68041	-3.266000	0.00534	-1.167000	0.02779	0.491000	0.48974	GTA		0.478	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			131	597	0	0	0	1	0	131	597				
ADAMTS12	81792	broad.mit.edu	37	5	33527365	33527365	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527365A>G	ENST00000504830.1	-	24	5048	c.4713T>C	c.(4711-4713)tgT>tgC	p.C1571C	ADAMTS12_ENST00000352040.3_Silent_p.C1486C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1571	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGTCTGGGGACACGAGAAGC	0.502										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4711-4713)tgT>tgC		ADAM metallopeptidase with thrombospondin type 1 motif, 12							261.0	233.0	242.0					5																	33527365		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527365A>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4713T>C	5.37:g.33527365A>G		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.C1486C	p.C1571C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			24	5048	-			1571			PLAC.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4713T>C	CCDS34140.1																																																																																				0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		85	835	0	0	0	1	0	85	835				
SIPA1L2	57568	broad.mit.edu	37	1	232596697	232596697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232596697G>T	ENST00000366630.1	-	9	3389	c.3031C>A	c.(3031-3033)Ctc>Atc	p.L1011I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L85I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1011	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGTACGGAGCAGGTCGATC	0.602																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3031-3033)Ctc>Atc		signal-induced proliferation-associated 1 like 2							39.0	41.0	41.0					1																	232596697		2203	4300	6503	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232596697G>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3031C>A	1.37:g.232596697G>T	ENSP00000355589:p.Leu1011Ile					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L85I	p.L1011I			Q9P2F8	SI1L2_HUMAN			9	3389	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1011			PDZ.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3031C>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540507	0.85917	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.72505	-0.66;-0.66;-0.66	5.64	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.76688	0.4022	L	0.38733	1.17	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77955	-0.2393	10	0.87932	D	0	-23.9498	13.093	0.59176	0.1215:0.0:0.8785:0.0	.	1011;85	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	I	1011;1011;85	ENSP00000355589:L1011I;ENSP00000262861:L1011I;ENSP00000309102:L85I	ENSP00000262861:L1011I	L	-	1	0	SIPA1L2	230663320	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.623000	0.54224	2.816000	0.96949	0.563000	0.77884	CTC		0.602	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		11	349	1	0	6.40141e-05	1	6.5221e-05	11	349				
ZMAT1	84460	broad.mit.edu	37	X	101139427	101139427	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101139427A>C	ENST00000372782.3	-	7	1019	c.972T>G	c.(970-972)acT>acG	p.T324T	ZMAT1_ENST00000458570.1_Silent_p.T153T|ZMAT1_ENST00000540921.1_Silent_p.T324T|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	324						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTGAAACAAGTCTTTGGAT	0.388																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(970-972)acT>acG		zinc finger, matrin-type 1							120.0	111.0	114.0					X																	101139427		2203	4300	6503	SO:0001819	synonymous_variant	84460					nucleus	zinc ion binding	g.chrX:101139427A>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.972T>G	X.37:g.101139427A>C						ZMAT1_ENST00000458570.1_Silent_p.T153T|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.T324T	p.T324T	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1019	-			153					Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	c.972T>G	CCDS35348.1																																																																																				0.388	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			174	543	0	0	0	1	0	174	543				
IL6ST	3572	broad.mit.edu	37	5	55264223	55264223	+	Splice_Site	SNP	C	C	A	rs200977907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55264223C>A	ENST00000381298.2	-	5	684	c.372G>T	c.(370-372)ttG>ttT	p.L124F	IL6ST_ENST00000336909.5_Splice_Site_p.L124F|IL6ST_ENST00000381294.3_Splice_Site_p.L124F|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Splice_Site_p.L124F|IL6ST_ENST00000502326.3_Splice_Site_p.L124F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381287.4_Splice_Site_p.L124F|IL6ST_ENST00000522633.2_Splice_Site_p.L124F|IL6ST_ENST00000577363.1_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	124					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCTGGAGGCACTAAAAGGG	0.368			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.e5-1		interleukin 6 signal transducer (gp130, oncostatin M receptor)							109.0	110.0	110.0					5																	55264223		2202	4300	6502	SO:0001630	splice_region_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55264223C>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.371-1G>T	5.37:g.55264223C>A						IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000502326.3_Splice_Site_p.L124_splice|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Splice_Site_p.L124_splice|IL6ST_ENST00000336909.5_Splice_Site_p.L124_splice|IL6ST_ENST00000381294.3_Splice_Site_p.L124_splice|IL6ST_ENST00000522633.2_Splice_Site_p.L124_splice|IL6ST_ENST00000381287.4_Splice_Site_p.L124_splice	p.L124_splice	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			5	684	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	124					A0N0L4|Q5FC04|Q9UQ41	Splice_Site	SNP	ENST00000381298.2	37	c.370_splice	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	9.104	1.004958	0.19199	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.76	0.656	0.17844	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.599517	0.18360	N	0.143601	T	0.11367	0.0277	N	0.21448	0.665	0.80722	D	1	B;B;B	0.20780	0.004;0.048;0.001	B;B;B	0.18871	0.005;0.023;0.001	T	0.15838	-1.0423	10	0.32370	T	0.25	.	5.608	0.17391	0.3904:0.4128:0.0:0.1967	.	124;124;124	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	F	124	ENSP00000370698:L124F;ENSP00000338799:L124F;ENSP00000370694:L124F;ENSP00000370687:L124F;ENSP00000444456:L124F;ENSP00000435399:L124F	ENSP00000338799:L124F	L	-	3	2	IL6ST	55299980	0.975000	0.34042	0.993000	0.49108	0.842000	0.47809	-0.009000	0.12765	-0.102000	0.12197	-0.143000	0.13931	TTG		0.368	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	Missense_Mutation	60	376	1	0	1.53716e-24	1	1.75837e-24	60	376				
MMP14	4323	broad.mit.edu	37	14	23311685	23311685	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23311685C>T	ENST00000311852.6	+	4	708	c.447C>T	c.(445-447)cgC>cgT	p.R149R	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	149					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	AGGCGTTCCGCGTGTGGGAGA	0.607																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(445-447)cgC>cgT		matrix metallopeptidase 14 (membrane-inserted)							79.0	55.0	63.0					14																	23311685		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311685C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.447C>T	14.37:g.23311685C>T						MMP14_ENST00000548162.1_3'UTR	p.R149R	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	708	+	all_cancers(95;9.47e-05)		149					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.447C>T	CCDS9577.1																																																																																				0.607	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		26	133	0	0	0	1	0	26	133				
KIF1A	547	broad.mit.edu	37	2	241737164	241737164	+	Silent	SNP	G	G	A	rs371266160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241737164G>A	ENST00000320389.7	-	2	164	c.6C>T	c.(4-6)gcC>gcT	p.A2A	KIF1A_ENST00000498729.2_Silent_p.A2A	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	2					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGAAGCCCCGGCCATCTCTG	0.562																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(4-6)gcC>gcT		kinesin family member 1A		G		0,3884		0,0,1942	23.0	26.0	25.0		6	-5.2	1.0	2		25	1,8257		0,1,4128	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6070	AA,AG,GG		0.0121,0.0,0.0082		2/1691	241737164	1,12141	1942	4129	6071	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241737164G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.6C>T	2.37:g.241737164G>A						KIF1A_ENST00000320389.7_Silent_p.A2A	p.A2A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	2	252	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	2			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.6C>T	CCDS46561.1																																																																																				0.562	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		5	82	0	0	0	1	0	5	82				
MLXIPL	51085	broad.mit.edu	37	7	73010506	73010506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73010506G>A	ENST00000313375.3	-	13	2082	c.2035C>T	c.(2035-2037)Ctc>Ttc	p.L679F	MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	679	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCACTGAGTGTGCTCACG	0.627																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2035-2037)Ctc>Ttc		MLX interacting protein-like							48.0	47.0	47.0					7																	73010506		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010506G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2035C>T	7.37:g.73010506G>A	ENSP00000320886:p.Leu679Phe					MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F	p.L679F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			13	2082	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	679					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.2035C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107634	0.77096	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.98617	-4.75;-5.03;-4.75;-5.03;-4.75;-4.75	5.38	4.5	0.54988	.	0.000000	0.64402	D	0.000001	D	0.98795	0.9594	M	0.78344	2.41	0.44677	D	0.997665	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.975;0.987	D	0.98052	1.0388	10	0.36615	T	0.2	-34.5749	11.168	0.48554	0.0894:0.0:0.9106:0.0	.	586;679;679;677;677	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	F	677;679;679;677;586;585	ENSP00000412330:L677F;ENSP00000406296:L679F;ENSP00000320886:L679F;ENSP00000346629:L677F;ENSP00000378616:L586F;ENSP00000392636:L585F	ENSP00000320886:L679F	L	-	1	0	MLXIPL	72648442	1.000000	0.71417	0.856000	0.33681	0.977000	0.68977	6.734000	0.74801	2.530000	0.85305	0.558000	0.71614	CTC		0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		64	251	0	0	0	1	0	64	251				
CCDC60	160777	broad.mit.edu	37	12	119909945	119909945	+	Missense_Mutation	SNP	T	T	A	rs202167769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119909945T>A	ENST00000327554.2	+	3	782	c.317T>A	c.(316-318)aTc>aAc	p.I106N	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	106										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATCTCAGAAATCCACTATGGG	0.448																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(316-318)aTc>aAc		coiled-coil domain containing 60							172.0	177.0	175.0					12																	119909945		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119909945T>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.317T>A	12.37:g.119909945T>A	ENSP00000333374:p.Ile106Asn					CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.I106N	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	782	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		106						Missense_Mutation	SNP	ENST00000327554.2	37	c.317T>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097657	0.56075	.	.	ENSG00000183273	ENST00000327554	T	0.26223	1.75	5.22	2.75	0.32379	.	0.606715	0.15846	N	0.241777	T	0.28863	0.0716	M	0.63428	1.95	0.09310	N	1	P	0.49559	0.925	P	0.48840	0.592	T	0.14504	-1.0470	9	.	.	.	-13.3902	3.3754	0.07235	0.2556:0.111:0.0:0.6334	.	106	Q8IWA6	CCD60_HUMAN	N	106	ENSP00000333374:I106N	.	I	+	2	0	CCDC60	118394328	0.001000	0.12720	0.063000	0.19743	0.130000	0.20726	0.454000	0.21827	0.837000	0.34925	0.334000	0.21626	ATC		0.448	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		220	931	0	0	0	1	0	220	931				
DNAH10	196385	broad.mit.edu	37	12	124415935	124415935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124415935C>A	ENST00000409039.3	+	73	12503	c.12478C>A	c.(12478-12480)Ctc>Atc	p.L4160I	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4160					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTGTTTGGTCTCCACCCCAA	0.577																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12478-12480)Ctc>Atc		dynein, axonemal, heavy chain 10							57.0	64.0	62.0					12																	124415935		2125	4229	6354	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124415935C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12478C>A	12.37:g.124415935C>A	ENSP00000386770:p.Leu4160Ile					DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	p.L4160I	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	73	12503	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4160					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.12478C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296746	0.81025	.	.	ENSG00000197653	ENST00000409039	T	0.21031	2.03	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.64940	0.2644	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78168	-0.2309	10	0.72032	D	0.01	.	19.6276	0.95684	0.0:1.0:0.0:0.0	.	4160	Q8IVF4	DYH10_HUMAN	I	4160	ENSP00000386770:L4160I	ENSP00000386770:L4160I	L	+	1	0	DNAH10	122981888	1.000000	0.71417	0.382000	0.26119	0.573000	0.36030	6.049000	0.71053	2.637000	0.89404	0.650000	0.86243	CTC		0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			48	205	1	0	2.81731e-22	1	3.18527e-22	48	205				
MAP3K4	4216	broad.mit.edu	37	6	161518151	161518151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161518151G>A	ENST00000392142.4	+	16	3615	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1156					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R1156Q(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGGTACCTCGATGCCATAGT	0.468																																						ENST00000392142.4																			2	Substitution - Missense(2)	p.R1156Q(2)	endometrium(2)	breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3466-3468)cGa>cAa		mitogen-activated protein kinase kinase kinase 4							193.0	154.0	167.0					6																	161518151		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161518151G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3467G>A	6.37:g.161518151G>A	ENSP00000375986:p.Arg1156Gln					MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q	p.R1156Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	16	3615	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1156					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3467G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835979	0.97003	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.73897	-0.79;-0.72;-0.62;-0.73	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.77685	0.4167	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.97;0.999;1.0	D;B;D;D	0.83275	0.928;0.186;0.99;0.996	T	0.76247	-0.3029	10	0.45353	T	0.12	-14.0529	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1152;142;1156;1156	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Q	1156;1156;1156;1152;1152	ENSP00000355886:R1156Q;ENSP00000375986:R1156Q;ENSP00000355887:R1152Q;ENSP00000297332:R1152Q	ENSP00000297332:R1152Q	R	+	2	0	MAP3K4	161438141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.230000	0.95299	2.882000	0.98803	0.655000	0.94253	CGA		0.468	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			60	277	0	0	0	1	0	60	277				
PLXNA1	5361	broad.mit.edu	37	3	126741028	126741028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741028G>A	ENST00000393409.2	+	21	4139	c.4139G>A	c.(4138-4140)aGc>aAc	p.S1380N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1357N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1380					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCACAGCGCAGCTTCTCCATG	0.617																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4069-4071)aGc>aAc		plexin A1							65.0	55.0	58.0					3																	126741028		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126741028G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4139G>A	3.37:g.126741028G>A	ENSP00000377061:p.Ser1380Asn					PLXNA1_ENST00000393409.2_Missense_Mutation_p.S1380N	p.S1357N			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	21	4139	+			1380						Missense_Mutation	SNP	ENST00000393409.2	37	c.4070G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641026	0.67244	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12039	2.72;2.72	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.165437	0.42053	D	0.000771	T	0.28830	0.0715	L	0.60067	1.865	0.47778	D	0.999519	P	0.46578	0.88	P	0.58660	0.843	T	0.02797	-1.1109	10	0.33940	T	0.23	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1380	Q9UIW2	PLXA1_HUMAN	N	1380;1357	ENSP00000377061:S1380N;ENSP00000251772:S1357N	ENSP00000251772:S1357N	S	+	2	0	PLXNA1	128223718	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.254000	0.78329	2.177000	0.69029	0.467000	0.42956	AGC		0.617	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		27	127	0	0	0	1	0	27	127				
EDEM2	55741	broad.mit.edu	37	20	33719541	33719541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33719541C>T	ENST00000374492.3	-	7	853	c.748G>A	c.(748-750)Gac>Aac	p.D250N	EDEM2_ENST00000374491.3_Missense_Mutation_p.D213N|EDEM2_ENST00000540582.1_Missense_Mutation_p.D209N|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	250					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATGCCTGCGTCCTGGGCCACC	0.557																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(625-627)Gac>Aac		ER degradation enhancer, mannosidase alpha-like 2							109.0	110.0	110.0					20																	33719541		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33719541C>T	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.748G>A	20.37:g.33719541C>T	ENSP00000363616:p.Asp250Asn					EDEM2_ENST00000374492.3_Missense_Mutation_p.D250N|EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N|EDEM2_ENST00000374491.2_Missense_Mutation_p.D213N|EDEM2_ENST00000542871.1_5'UTR	p.D209N			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		11	1346	-			250					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.625G>A	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809335	0.96975	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000540582	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	L	0.49699	1.58	0.80722	D	1	P;D;D;D	0.89917	0.765;1.0;1.0;1.0	B;D;D;D	0.87578	0.201;0.998;0.995;0.997	T	0.82575	-0.0389	10	0.87932	D	0	-22.4335	20.2084	0.98285	0.0:1.0:0.0:0.0	.	209;29;213;250	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	N	213;250;29;209	ENSP00000363615:D213N;ENSP00000363616:D250N;ENSP00000443528:D29N;ENSP00000441548:D209N	ENSP00000363615:D213N	D	-	1	0	EDEM2	33183202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.774000	0.95407	0.650000	0.86243	GAC		0.557	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		28	834	0	0	0	1	0	28	834				
WDR35	57539	broad.mit.edu	37	2	20133266	20133266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20133266C>T	ENST00000345530.3	-	23	2702	c.2587G>A	c.(2587-2589)Gca>Aca	p.A863T	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.A852T	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	863					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACATTTGTGCTATTTCCTGT	0.353																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2587-2589)Gca>Aca		WD repeat domain 35							111.0	96.0	101.0					2																	20133266		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20133266C>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2587G>A	2.37:g.20133266C>T	ENSP00000314444:p.Ala863Thr					WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.A852T	p.A863T	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			23	2702	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		863					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2587G>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567960	0.65651	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.30448	1.53;1.53	5.29	5.29	0.74685	.	0.058201	0.64402	D	0.000002	T	0.55737	0.1939	M	0.80422	2.495	0.80722	D	1	D;D	0.62365	0.987;0.991	P;P	0.58820	0.843;0.846	T	0.61618	-0.7026	10	0.87932	D	0	-13.325	18.2704	0.90066	0.0:1.0:0.0:0.0	.	852;863	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	863;852	ENSP00000314444:A863T;ENSP00000281405:A852T	ENSP00000281405:A852T	A	-	1	0	WDR35	19996747	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.450000	0.80656	2.635000	0.89317	0.563000	0.77884	GCA		0.353	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		73	190	0	0	0	1	0	73	190				
FMNL2	114793	broad.mit.edu	37	2	153484903	153484903	+	Silent	SNP	C	C	T	rs200459731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153484903C>T	ENST00000475377.2	+	5	581	c.381C>T	c.(379-381)taC>taT	p.Y127Y	FMNL2_ENST00000288670.9_Silent_p.Y752Y			Q96PY5	FMNL2_HUMAN	formin-like 2	752	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTCGGCTCTACGAGCGGGAAA	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19631	0.0		0.0	False		,,,				2504	0.0					ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2254-2256)taC>taT		formin-like 2		C		0,3804		0,0,1902	124.0	123.0	123.0		2256	-6.8	0.6	2		123	1,8253		0,1,4126	no	coding-synonymous	FMNL2	NM_052905.3		0,1,6028	TT,TC,CC		0.0121,0.0,0.0083		752/1093	153484903	1,12057	1902	4127	6029	SO:0001819	synonymous_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153484903C>T	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.381C>T	2.37:g.153484903C>T						FMNL2_ENST00000475377.2_Silent_p.Y127Y	p.Y752Y	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			18	2623	+			752			FH2.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000475377.2	37	c.2256C>T																																																																																					0.458	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905		79	428	0	0	0	1	0	79	428				
OR10G2	26534	broad.mit.edu	37	14	22102553	22102553	+	Missense_Mutation	SNP	A	A	C	rs144770758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22102553A>C	ENST00000542433.1	-	1	543	c.446T>G	c.(445-447)cTt>cGt	p.L149R		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TCCAGCCACAAGGACTGTGCA	0.557																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(445-447)cTt>cGt		olfactory receptor, family 10, subfamily G, member 2							35.0	40.0	38.0					14																	22102553		2202	4298	6500	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102553A>C		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.446T>G	14.37:g.22102553A>C	ENSP00000445383:p.Leu149Arg						p.L149R	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	543	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	149					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.446T>G	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693504	0.48202	.	.	ENSG00000255582	ENST00000542433	T	0.44881	0.91	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	N	0.001617	T	0.70962	0.3284	H	0.95260	3.645	0.28420	N	0.917786	D	0.71674	0.998	D	0.72982	0.979	T	0.69397	-0.5156	10	0.87932	D	0	-7.5525	10.2529	0.43379	1.0:0.0:0.0:0.0	.	149	Q8NGC3	O10G2_HUMAN	R	149	ENSP00000445383:L149R	ENSP00000445383:L149R	L	-	2	0	OR10G2	21172393	0.325000	0.24660	0.998000	0.56505	0.961000	0.63080	3.861000	0.56002	1.525000	0.49052	0.374000	0.22700	CTT		0.557	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			29	123	0	0	0	1	0	29	123				
TOM1L1	10040	broad.mit.edu	37	17	53027406	53027406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000540336.1_Splice_Site_p.A318V|TOM1L1_ENST00000445275.2_Splice_Site_p.A419V|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V|TOM1L1_ENST00000348161.4_Splice_Site_p.A353V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	430					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGCGATGACAAAA	0.358																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.e14-1		target of myb1 (chicken)-like 1							92.0	88.0	89.0					17																	53027406		2203	4300	6503	SO:0001630	splice_region_variant	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53027406C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1289-1C>T	17.37:g.53027406C>T						TOM1L1_ENST00000572158.1_Splice_Site_p.A423_splice|TOM1L1_ENST00000445275.2_Splice_Site_p.A419_splice|TOM1L1_ENST00000536554.1_Splice_Site_p.A353_splice|TOM1L1_ENST00000540336.1_Splice_Site_p.A318_splice|TOM1L1_ENST00000348161.4_Splice_Site_p.A353_splice	p.A430_splice	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			14	1642	+			430					Q53G06|Q8N749	Splice_Site	SNP	ENST00000575882.1	37	c.1288_splice	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631705	0.46944	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.23754	1.89;1.89;1.89	5.51	1.23	0.21249	.	0.658250	0.13744	N	0.365740	T	0.12305	0.0299	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.19445	0.007;0.004;0.036;0.004	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.31138	-0.9954	9	.	.	.	.	5.4075	0.16330	0.0:0.593:0.158:0.249	.	318;423;353;430	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	430;318;353;353	ENSP00000441242:A318V;ENSP00000343901:A353V;ENSP00000443099:A353V	.	A	+	2	0	TOM1L1	50382405	0.002000	0.14202	0.032000	0.17829	0.791000	0.44710	-0.173000	0.09854	0.121000	0.18284	-0.311000	0.09066	GCG		0.358	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486	Missense_Mutation	54	292	0	0	0	1	0	54	292				
C1orf56	54964	broad.mit.edu	37	1	151021076	151021076	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151021076A>G	ENST00000368926.5	+	1	861	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	251						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Q251Q(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCACCTATCAACAATGTCCCT	0.617											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			1	Substitution - coding silent(1)	p.Q251Q(1)	kidney(1)	endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(751-753)caA>caG		chromosome 1 open reading frame 56							125.0	131.0	129.0					1																	151021076		2203	4300	6503	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151021076A>G	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.753A>G	1.37:g.151021076A>G			OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	C1orf56_ENST00000465135.1_3'UTR	p.Q251Q	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	861	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		251					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.753A>G	CCDS980.1																																																																																				0.617	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		310	904	0	0	0	1	0	310	904				
C1QTNF3	114899	broad.mit.edu	37	5	34033454	34033454	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033454G>A	ENST00000231338.7	-	3	393	c.306C>T	c.(304-306)ggC>ggT	p.G102G	C1QTNF3_ENST00000513065.1_5'Flank|RP11-1084J3.4_ENST00000382079.3_Silent_p.G86G|C1QTNF3_ENST00000382065.3_Silent_p.G175G	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	102	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CTCCTTTGGGGCCATGCTGCC	0.577																																						ENST00000382065.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17						c.(523-525)ggC>ggT		C1q and tumor necrosis factor related protein 3							114.0	112.0	112.0					5																	34033454		2203	4300	6503	SO:0001819	synonymous_variant	114899					collagen		g.chr5:34033454G>A	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.306C>T	5.37:g.34033454G>A						C1QTNF3_ENST00000231338.7_Silent_p.G102G	p.G175G	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN			3	1231	-	all_lung(31;0.0207)		102			C1q.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Silent	SNP	ENST00000231338.7	37	c.525C>T	CCDS3904.1																																																																																				0.577	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		60	310	0	0	0	1	0	60	310				
FOXC2	2303	broad.mit.edu	37	16	86601141	86601141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601141C>A	ENST00000320354.4	+	1	285	c.200C>A	c.(199-201)cCt>cAt	p.P67H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	67					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCCGCGGCGCCTAAGGACCTG	0.652									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(199-201)cCt>cAt		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							54.0	57.0	56.0					16																	86601141		2198	4300	6498	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601141C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.200C>A	16.37:g.86601141C>A	ENSP00000326371:p.Pro67His					RP11-463O9.5_ENST00000563280.1_RNA	p.P67H	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	285	+			67					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.200C>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500724	0.64298	.	.	ENSG00000176692	ENST00000320354	D	0.96011	-3.88	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.388043	0.21425	U	0.074752	D	0.96623	0.8898	M	0.62723	1.935	0.43061	D	0.994685	D	0.69078	0.997	P	0.62014	0.897	D	0.96193	0.9139	10	0.38643	T	0.18	.	16.2107	0.82151	0.0:1.0:0.0:0.0	.	67	Q99958	FOXC2_HUMAN	H	67	ENSP00000326371:P67H	ENSP00000326371:P67H	P	+	2	0	FOXC2	85158642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.145000	0.66743	0.650000	0.86243	CCT		0.652	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		128	337	1	0	3.21211e-60	1	4.03831e-60	128	337				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473062	22473062	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22473062T>C	ENST00000557788.2	-	0	208							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											ATGATAGATTTCCCCAATCCA	0.567																																						ENST00000557788.2																			0																																																			0							g.chr15:22473062T>C	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473062T>C														0	208	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.567	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			117	979	0	0	0	1	0	117	979				
ATP2C2	9914	broad.mit.edu	37	16	84459343	84459343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84459343C>T	ENST00000262429.4	+	11	1011	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L308F	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	308					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTCCCCAGGTCTCATCATGCT	0.502																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(922-924)Ctc>Ttc		ATPase, Ca++ transporting, type 2C, member 2							260.0	254.0	256.0					16																	84459343		2011	4184	6195	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84459343C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.922C>T	16.37:g.84459343C>T	ENSP00000262429:p.Leu308Phe					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.L308F	p.L308F			O75185	AT2C2_HUMAN			11	1011	+			308					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.922C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933585	0.18206	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.90324	-2.65;-2.65	5.0	-2.62	0.06152	ATPase, P-type, ATPase-associated domain (1);	1.503780	0.03710	N	0.250100	D	0.85283	0.5661	L	0.28115	0.83	0.38978	D	0.958882	B;B;B;B	0.21753	0.027;0.018;0.022;0.06	B;B;B;B	0.33750	0.12;0.043;0.073;0.169	T	0.70132	-0.4956	10	0.56958	D	0.05	.	5.7035	0.17895	0.0:0.1713:0.4723:0.3564	.	308;157;325;308	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	F	308;308;157	ENSP00000397925:L308F;ENSP00000262429:L308F	ENSP00000262429:L308F	L	+	1	0	ATP2C2	83016844	0.985000	0.35326	0.274000	0.24659	0.152000	0.21847	0.236000	0.17967	-0.250000	0.09555	-0.176000	0.13171	CTC		0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		245	860	0	0	0	1	0	245	860				
PCDH20	64881	broad.mit.edu	37	13	61986877	61986877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986877G>A	ENST00000409186.1	-	5	3460	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	452	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGAAAAACGCAATGGGAGT	0.413																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1354-1356)gCg>gTg		protocadherin 20							103.0	103.0	103.0					13																	61986877		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986877G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1355C>T	13.37:g.61986877G>A	ENSP00000386653:p.Ala452Val					PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V	p.A452V			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3460	-		Breast(118;0.195)|Prostate(109;0.229)	425			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1355C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240802	0.79912	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60548	0.18;0.18	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	T	0.77798	0.4184	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78991	-0.1985	10	0.87932	D	0	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	452	A8K1K9	.	V	452;452;198	ENSP00000387250:A452V;ENSP00000386653:A452V	ENSP00000351500:A198V	A	-	2	0	PCDH20	60884878	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.751000	0.98889	2.808000	0.96608	0.650000	0.86243	GCG		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		91	397	0	0	0	1	0	91	397				
WDR74	54663	broad.mit.edu	37	11	62601979	62601979	+	Silent	SNP	T	T	C	rs568454869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62601979T>C	ENST00000525239.1	-	8	1176	c.639A>G	c.(637-639)gcA>gcG	p.A213A	WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000278856.4_Silent_p.A213A|WDR74_ENST00000311713.7_Silent_p.A213A|STX5_ENST00000394690.1_5'Flank|WDR74_ENST00000529106.1_Silent_p.A213A|STX5_ENST00000541317.1_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000525752.1_Silent_p.A156A|RP11-727F15.9_ENST00000535867.1_RNA			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	213					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GCTGGGGGGATGCTGGATCAT	0.577																																						ENST00000525239.1																			0				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						c.(637-639)gcA>gcG		WD repeat domain 74							42.0	47.0	45.0					11																	62601979		2037	4193	6230	SO:0001819	synonymous_variant	54663					nucleolus		g.chr11:62601979T>C		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.639A>G	11.37:g.62601979T>C						WDR74_ENST00000311713.7_Silent_p.A213A|WDR74_ENST00000525752.1_Silent_p.A156A|WDR74_ENST00000529106.1_Silent_p.A213A|WDR74_ENST00000278856.4_Silent_p.A213A	p.A213A			Q6RFH5	WDR74_HUMAN			8	1176	-			213					A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	ENST00000525239.1	37	c.639A>G	CCDS44630.1																																																																																				0.577	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		8	216	0	0	0	1	0	8	216				
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A	rs543529432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20748	0.0		0.0	False		,,,				2504	0.0					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2068-2070)Gtt>Att		transient receptor potential cation channel, subfamily V, member 2							140.0	121.0	127.0					17																	16336966		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16336966G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2068G>A	17.37:g.16336966G>A	ENSP00000342222:p.Val690Ile					TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	p.V690I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2467	+			690					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2068G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846704	0.32606	.	.	ENSG00000187688	ENST00000338560	D	0.90324	-2.65	5.79	5.79	0.91817	.	0.058083	0.64402	D	0.000002	D	0.86322	0.5905	L	0.32530	0.975	0.54753	D	0.999981	P	0.34815	0.47	B	0.33521	0.165	D	0.84716	0.0737	10	0.36615	T	0.2	-24.5954	17.5351	0.87827	0.0:0.0:1.0:0.0	.	690	Q9Y5S1	TRPV2_HUMAN	I	690	ENSP00000342222:V690I	ENSP00000342222:V690I	V	+	1	0	TRPV2	16277691	1.000000	0.71417	0.182000	0.23118	0.116000	0.19942	5.992000	0.70609	2.751000	0.94390	0.650000	0.86243	GTT		0.592	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		86	414	0	0	0	1	0	86	414				
RGPD3	653489	broad.mit.edu	37	2	107040937	107040937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040937C>T	ENST00000409886.3	-	20	3573	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q	RGPD3_ENST00000304514.7_Silent_p.Q1162Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1162	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTCAAATTTCTGCTTGAATT	0.448																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3484-3486)caG>caA		RANBP2-like and GRIP domain containing 3							2.0	2.0	2.0					2																	107040937		502	1160	1662	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107040937C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3486G>A	2.37:g.107040937C>T						RGPD3_ENST00000304514.7_Silent_p.Q1162Q	p.Q1162Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	3573	-			1162			RanBD1 1.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.3486G>A	CCDS46379.1																																																																																				0.448	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		114	548	0	0	0	1	0	114	548				
CNOT3	4849	broad.mit.edu	37	19	54659086	54659086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659086C>T	ENST00000406403.1	+	17	3806	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	735	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGGGGCCAGCGGAAGAAGGA	0.637																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(2203-2205)Cgg>Tgg		CCR4-NOT transcription complex, subunit 3							83.0	67.0	73.0					19																	54659086		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54659086C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2203C>T	19.37:g.54659086C>T	ENSP00000383954:p.Arg735Trp					LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W	p.R735W			O75175	CNOT3_HUMAN			17	3806	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		735					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.2203C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906876	0.72868	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.49720	0.77;0.77;0.77	4.77	1.38	0.22167	NOT2/NOT3/NOT5 (1);	0.141024	0.42821	D	0.000656	T	0.54775	0.1879	H	0.95437	3.67	0.80722	D	1	B	0.18310	0.027	B	0.17722	0.019	T	0.55541	-0.8125	10	0.87932	D	0	-20.1511	5.2967	0.15756	0.2816:0.562:0.0:0.1564	.	735	O75175	CNOT3_HUMAN	W	735;735;70	ENSP00000221232:R735W;ENSP00000383954:R735W;ENSP00000420064:R70W	ENSP00000221232:R735W	R	+	1	2	CNOT3	59350898	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.468000	0.35332	0.312000	0.23038	0.561000	0.74099	CGG		0.637	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		15	102	0	0	0	1	0	15	102				
COL6A2	1292	broad.mit.edu	37	21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	rs140020002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCAGCGACGTGGACATGGA	0.662																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2938-2940)Gtg>Atg		collagen, type VI, alpha 2		G	MET/VAL	2,4402	4.2+/-10.8	0,2,2200	70.0	58.0	62.0		2938	4.4	1.0	21	dbSNP_134	62	0,8600		0,0,4300	no	missense	COL6A2	NM_001849.3	21	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	980/1020	47552344	2,13002	2202	4300	6502	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552344G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2938G>A	21.37:g.47552344G>A	ENSP00000300527:p.Val980Met						p.V980M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	3042	+	Breast(49;0.245)		980			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2938G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717812	0.30413	4.54E-4	0.0	ENSG00000142173	ENST00000300527	T	0.80393	-1.37	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.388276	0.26069	N	0.026522	D	0.86887	0.6041	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87150	0.2208	10	0.56958	D	0.05	-16.4704	10.6536	0.45663	0.0893:0.0:0.9107:0.0	.	980	P12110	CO6A2_HUMAN	M	980	ENSP00000300527:V980M	ENSP00000300527:V980M	V	+	1	0	COL6A2	46376772	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	5.117000	0.64667	2.001000	0.58596	0.297000	0.19635	GTG		0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			37	153	0	0	0	1	0	37	153				
ATR	545	broad.mit.edu	37	3	142281779	142281779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142281779G>T	ENST00000350721.4	-	4	586	c.465C>A	c.(463-465)gaC>gaA	p.D155E	ATR_ENST00000383101.3_Missense_Mutation_p.D155E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	155					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTAAACCAAGTCTTCAAAAA	0.353								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(463-465)gaC>gaA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							73.0	81.0	78.0					3																	142281779		2203	4299	6502	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281779G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.465C>A	3.37:g.142281779G>T	ENSP00000343741:p.Asp155Glu					ATR_ENST00000383101.3_Missense_Mutation_p.D155E	p.D155E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	586	-			155					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.465C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546167	0.45383	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66099	-0.19;-0.19	5.78	-2.14	0.07123	Armadillo-type fold (1);	0.051870	0.64402	D	0.000001	T	0.50616	0.1626	M	0.63428	1.95	0.26028	N	0.981785	B	0.33857	0.429	B	0.27608	0.081	T	0.46317	-0.9200	10	0.23891	T	0.37	-14.3611	13.4513	0.61172	0.6071:0.0:0.3929:0.0	.	155	Q13535	ATR_HUMAN	E	155	ENSP00000343741:D155E;ENSP00000372581:D155E	ENSP00000343741:D155E	D	-	3	2	ATR	143764469	0.998000	0.40836	0.990000	0.47175	0.974000	0.67602	0.455000	0.21843	-0.237000	0.09739	0.591000	0.81541	GAC		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		85	467	1	0	7.7321e-48	1	9.52824e-48	85	467				
GOLT1A	127845	broad.mit.edu	37	1	204170873	204170873	+	Missense_Mutation	SNP	G	G	A	rs149024146	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204170873G>A	ENST00000308302.3	-	3	369	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGTTTGTGCCGTTGGAAGAAG	0.572													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19728	0.0		0.0	False		,,,				2504	0.0					ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)Cgg>Tgg		golgi transport 1A							138.0	145.0	143.0					1																	204170873		2203	4300	6503	SO:0001583	missense	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170873G>A	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.184C>T	1.37:g.204170873G>A	ENSP00000308535:p.Arg62Trp						p.R62W	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	369	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Missense_Mutation	SNP	ENST00000308302.3	37	c.184C>T	CCDS1443.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608368	0.46527	.	.	ENSG00000174567	ENST00000308302	T	0.47177	0.85	5.47	2.3	0.28687	.	0.000000	0.56097	D	0.000036	T	0.50394	0.1613	M	0.76938	2.355	0.45995	D	0.998804	B	0.29481	0.245	B	0.30782	0.12	T	0.52548	-0.8561	10	0.54805	T	0.06	-23.2114	14.2653	0.66113	0.0:0.0:0.3024:0.6976	.	62	Q6ZVE7	GOT1A_HUMAN	W	62	ENSP00000308535:R62W	ENSP00000308535:R62W	R	-	1	2	GOLT1A	202437496	0.520000	0.26250	0.999000	0.59377	0.938000	0.57974	0.848000	0.27710	0.153000	0.19213	0.643000	0.83706	CGG		0.572	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		112	570	0	0	0	1	0	112	570				
NTRK3	4916	broad.mit.edu	37	15	88420315	88420315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88420315G>A	ENST00000360948.2	-	19	2532	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W	NTRK3_ENST00000394480.2_Missense_Mutation_p.R777W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTCGGGGCCGCTCCAAAACA	0.527			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(2329-2331)Cgg>Tgg		neurotrophic tyrosine kinase, receptor, type 3							78.0	67.0	70.0					15																	88420315		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88420315G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2371C>T	15.37:g.88420315G>A	ENSP00000354207:p.Arg791Trp	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W|NTRK3_ENST00000360948.2_Missense_Mutation_p.R791W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W	p.R777W	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2650	-			791			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.2329C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873862	0.72180	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.58	2.28	0.28536	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	D	0.87664	0.2536	10	0.87932	D	0	.	13.2102	0.59819	0.0:0.0:0.2524:0.7476	.	769;777;791	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	W	777;791;783;777	ENSP00000377990:R777W;ENSP00000354207:R791W;ENSP00000350356:R783W;ENSP00000347397:R777W	ENSP00000347397:R777W	R	-	1	2	NTRK3	86221319	0.317000	0.24589	1.000000	0.80357	0.989000	0.77384	0.025000	0.13577	0.645000	0.30675	0.561000	0.74099	CGG		0.527	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				39	202	0	0	0	1	0	39	202				
PI4K2A	55361	broad.mit.edu	37	10	99422666	99422666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99422666C>T	ENST00000370631.3	+	5	982	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	309	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GTTCACAGATCGAGGCAATGA	0.388																																						ENST00000370631.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(925-927)Cga>Tga		phosphatidylinositol 4-kinase type 2 alpha							141.0	131.0	134.0					10																	99422666		2203	4300	6503	SO:0001587	stop_gained	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99422666C>T	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.925C>T	10.37:g.99422666C>T	ENSP00000359665:p.Arg309*					PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*	p.R309*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	5	982	+		Colorectal(252;0.162)	309			PI3K/PI4K.		D3DR59|Q9NSG8	Nonsense_Mutation	SNP	ENST00000370631.3	37	c.925C>T	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	39	7.404835	0.98262	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	.	.	.	5.41	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8168	13.9095	0.63857	0.2602:0.7398:0.0:0.0	.	.	.	.	X	279;309;279	.	ENSP00000359665:R309X	R	+	1	2	PI4K2A;RP11-548K23.11	99412656	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.043000	0.30316	2.700000	0.92200	0.655000	0.94253	CGA		0.388	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		66	337	0	0	0	1	0	66	337				
NOTCH4	4855	broad.mit.edu	37	6	32171927	32171927	+	Silent	SNP	C	C	T	rs558185332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32171927C>T	ENST00000375023.3	-	19	3243	c.3105G>A	c.(3103-3105)ctG>ctA	p.L1035L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1035	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGTCCAGGCAGACACTGGC	0.617																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3103-3105)ctG>ctA		notch 4							56.0	41.0	46.0					6																	32171927		1510	2707	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32171927C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3105G>A	6.37:g.32171927C>T							p.L1035L	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			19	3243	-			1035			EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.3105G>A	CCDS34420.1																																																																																				0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			27	144	0	0	0	1	0	27	144				
DDX27	55661	broad.mit.edu	37	20	47836014	47836014	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47836014C>A	ENST00000371764.4	+	1	131	c.122C>A	c.(121-123)aCc>aAc	p.T41N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	41						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTAATCGGAACCATAGGCGAG	0.602																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(121-123)aCc>aAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							68.0	62.0	64.0					20																	47836014		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47836014C>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.122C>A	20.37:g.47836014C>A	ENSP00000360828:p.Thr41Asn					DDX27_ENST00000484427.1_3'UTR	p.T41N	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	131	+			41					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.122C>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076268	0.76415	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	D	0.86297	-2.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	L	0.54323	1.7	0.58432	D	0.999994	D	0.76494	0.999	D	0.63488	0.915	D	0.91424	0.5161	10	0.87932	D	0	-20.4532	16.1635	0.81734	0.0:1.0:0.0:0.0	.	41	Q96GQ7	DDX27_HUMAN	N	41	ENSP00000360828:T41N	ENSP00000360828:T41N	T	+	2	0	DDX27	47269421	1.000000	0.71417	0.975000	0.42487	0.197000	0.23852	5.007000	0.63984	2.894000	0.99253	0.655000	0.94253	ACC		0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			30	234	1	0	2.81731e-10	1	2.98404e-10	30	234				
SLC10A5	347051	broad.mit.edu	37	8	82606167	82606167	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606167A>G	ENST00000518568.1	-	1	2242	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	347						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACAGCAAACCCAAAGCAG	0.383																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(1039-1041)ggT>ggC		solute carrier family 10, member 5							70.0	70.0	70.0					8																	82606167		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606167A>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.1041T>C	8.37:g.82606167A>G							p.G347G	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	2242	-			347					B2RN26	Silent	SNP	ENST00000518568.1	37	c.1041T>C	CCDS34915.1																																																																																				0.383	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		62	247	0	0	0	1	0	62	247				
C19orf44	84167	broad.mit.edu	37	19	16611708	16611708	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16611708G>T	ENST00000221671.3	+	2	261	c.105G>T	c.(103-105)caG>caT	p.Q35H	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.Q35H	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	35										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAAACTTCCAGATCAGTAGAA	0.408																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(103-105)caG>caT		chromosome 19 open reading frame 44							84.0	85.0	85.0					19																	16611708		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611708G>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.105G>T	19.37:g.16611708G>T	ENSP00000221671:p.Gln35His					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.Q35H	p.Q35H	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			2	261	+			35					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.105G>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883737	0.17467	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.05	-4.18	0.03846	.	1.755690	0.02950	N	0.141525	T	0.30510	0.0767	L	0.43152	1.355	0.09310	N	1	B;B	0.20052	0.001;0.041	B;B	0.19666	0.003;0.026	T	0.23154	-1.0196	9	0.66056	D	0.02	-0.1142	0.3547	0.00355	0.3523:0.2491:0.1717:0.2269	.	35;35	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	H	35	.	ENSP00000221671:Q35H	Q	+	3	2	C19orf44	16472708	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.413000	0.07123	-0.666000	0.05310	-0.302000	0.09304	CAG		0.408	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		45	515	1	0	2.35958e-20	1	2.64308e-20	45	515				
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152749094C>A	ENST00000334371.2	+	1	247	c.247C>A	c.(247-249)Cgt>Agt	p.R83S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701																																						ENST00000334371.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(247-249)Cgt>Agt		late cornified envelope 1F							22.0	26.0	24.0					1																	152749094		2203	4298	6501	SO:0001583	missense	353137				keratinization			g.chr1:152749094C>A		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.247C>A	1.37:g.152749094C>A	ENSP00000334187:p.Arg83Ser						p.R83S	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Poly-Arg.			Missense_Mutation	SNP	ENST00000334371.2	37	c.247C>A	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	8.593	0.885064	0.17540	.	.	ENSG00000240386	ENST00000334371	T	0.04119	3.7	4.45	3.46	0.39613	.	0.268702	0.18250	N	0.146987	T	0.02533	0.0077	M	0.65498	2.005	0.22468	N	0.999073	P	0.38455	0.632	B	0.32805	0.153	T	0.24870	-1.0148	10	0.87932	D	0	.	9.1314	0.36848	0.2177:0.7823:0.0:0.0	.	83	Q5T754	LCE1F_HUMAN	S	83	ENSP00000334187:R83S	ENSP00000334187:R83S	R	+	1	0	LCE1F	151015718	0.007000	0.16637	0.983000	0.44433	0.400000	0.30750	1.238000	0.32707	2.445000	0.82738	0.557000	0.71058	CGT		0.701	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		107	275	1	0	8.64784e-51	1	1.07212e-50	107	275				
FCGR2A	2212	broad.mit.edu	37	1	161487866	161487866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487866G>A	ENST00000271450.6	+	7	920	c.882G>A	c.(880-882)agG>agA	p.R294R	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.R293R|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	294					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAACCCCAGGGCACCTACTG	0.448																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(880-882)agG>agA		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						70.0	72.0	71.0					1																	161487866		2203	4297	6500	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487866G>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.882G>A	1.37:g.161487866G>A						FCGR2A_ENST00000367972.4_Silent_p.R293R|FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000461298.1_Silent_p.R29R	p.R294R	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	920	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		294					Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.882G>A	CCDS44264.1																																																																																				0.448	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		74	378	0	0	0	1	0	74	378				
ZNF521	25925	broad.mit.edu	37	18	22806822	22806822	+	Missense_Mutation	SNP	C	C	T	rs140504840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806822C>T	ENST00000361524.3	-	4	1208	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M|ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	354					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTACTGGACACGGAGGTATAG	0.577			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1060-1062)Gtg>Atg		zinc finger protein 521		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	88.0	82.0	84.0		1060	6.2	1.0	18	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF521	NM_015461.2	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	354/1312	22806822	2,13004	2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806822C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1060G>A	18.37:g.22806822C>T	ENSP00000354794:p.Val354Met					ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M	p.V354M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1208	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		354					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1060G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376385	0.24857	2.27E-4	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	N	0.01576	-0.805	0.40687	D	0.982362	P	0.35411	0.5	B	0.23150	0.044	T	0.55354	-0.8154	10	0.28530	T	0.3	-26.4043	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	354	Q96K83	ZN521_HUMAN	M	354;388;354	ENSP00000354794:V354M;ENSP00000382352:V354M	ENSP00000354794:V354M	V	-	1	0	ZNF521	21060820	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.743000	0.68655	2.941000	0.99782	0.655000	0.94253	GTG		0.577	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		83	274	0	0	0	1	0	83	274				
RASD2	23551	broad.mit.edu	37	22	35947670	35947670	+	Missense_Mutation	SNP	C	C	T	rs372988119		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35947670C>T	ENST00000216127.4	+	3	1034	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	131					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AAGGAGGCGGCGGAGCTGCCC	0.622																																						ENST00000216127.4																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(391-393)gCg>gTg		RASD family, member 2		C	VAL/ALA	0,4406		0,0,2203	75.0	68.0	70.0		392	3.6	0.6	22		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASD2	NM_014310.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	131/267	35947670	1,13005	2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947670C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.392C>T	22.37:g.35947670C>T	ENSP00000216127:p.Ala131Val						p.A131V	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1034	+			131					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.392C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921724	0.17982	0.0	1.16E-4	ENSG00000100302	ENST00000216127	T	0.77358	-1.09	5.72	3.6	0.41247	Small GTP-binding protein domain (1);	0.291299	0.39083	N	0.001465	T	0.58821	0.2149	N	0.04162	-0.26	0.32629	N	0.522231	B	0.12630	0.006	B	0.13407	0.009	T	0.56062	-0.8041	10	0.27082	T	0.32	.	16.9288	0.86184	0.0:0.5053:0.4947:0.0	.	131	Q96D21	RHES_HUMAN	V	131	ENSP00000216127:A131V	ENSP00000216127:A131V	A	+	2	0	RASD2	34277616	0.844000	0.29557	0.620000	0.29132	0.949000	0.60115	1.492000	0.35594	0.746000	0.32786	0.561000	0.74099	GCG		0.622	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		33	349	0	0	0	1	0	33	349				
PLXNB2	23654	broad.mit.edu	37	22	50728215	50728215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728215G>A	ENST00000449103.1	-	3	939	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R267W			O15031	PLXB2_HUMAN	plexin B2	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGGGTCCCGGCACTGCAGG	0.652																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(799-801)Cgg>Tgg		plexin B2							40.0	44.0	43.0					22																	50728215		2059	4181	6240	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728215G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.799C>T	22.37:g.50728215G>A	ENSP00000409171:p.Arg267Trp					PLXNB2_ENST00000359337.4_Missense_Mutation_p.R267W	p.R267W			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	939	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	267			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.799C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074264	0.36566	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.11169	2.8;2.8;2.8	4.62	2.49	0.30216	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.274000	0.05777	N	0.608001	T	0.17323	0.0416	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.55303	0.773	T	0.26573	-1.0099	10	0.66056	D	0.02	.	7.6582	0.28388	0.0801:0.0:0.5201:0.3998	.	267	O15031	PLXB2_HUMAN	W	267	ENSP00000409171:R267W;ENSP00000352288:R267W;ENSP00000392620:R267W	ENSP00000352288:R267W	R	-	1	2	PLXNB2	49070342	0.004000	0.15560	0.269000	0.24586	0.281000	0.26958	0.030000	0.13688	0.545000	0.28902	0.462000	0.41574	CGG		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		6	320	0	0	0	1	0	6	320				
SLC17A2	10246	broad.mit.edu	37	6	25913550	25913550	+	3'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25913550G>A	ENST00000265425.3	-	0	1487				SLC17A2_ENST00000360488.3_Silent_p.A428A|SLC17A2_ENST00000377850.3_Missense_Mutation_p.L478F			O00624	NPT3_HUMAN	solute carrier family 17, member 2						phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGTCCTCAGAGGCGGGTAAGG	0.428																																						ENST00000377850.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1432-1434)Ctc>Ttc		solute carrier family 17, member 2							141.0	132.0	135.0					6																	25913550		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25913550G>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.*147C>T	6.37:g.25913550G>A						SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000360488.3_Silent_p.A428A	p.L478F			O00624	NPT3_HUMAN			12	1956	-			0					A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.1432C>T		.	.	.	.	.	.	.	.	.	.	G	9.566	1.119743	0.20877	.	.	ENSG00000112337	ENST00000377850	T	0.65732	-0.17	5.19	3.19	0.36642	.	0.238834	0.30142	N	0.010305	T	0.45975	0.1369	.	.	.	0.09310	N	1	P	0.52170	0.951	P	0.49301	0.606	T	0.40270	-0.9572	9	0.87932	D	0	.	5.9941	0.19483	0.108:0.1876:0.7045:0.0	.	478	A6NK81	.	F	478	ENSP00000367081:L478F	ENSP00000367081:L478F	L	-	1	0	SLC17A2	26021529	0.944000	0.32072	0.801000	0.32222	0.001000	0.01503	0.297000	0.19101	1.490000	0.48466	-0.355000	0.07637	CTC		0.428	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			100	483	0	0	0	1	0	100	483				
APBA1	320	broad.mit.edu	37	9	72064647	72064647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72064647G>A	ENST00000265381.4	-	10	2256	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	678	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGGGAGGATGGATCCCCAGC	0.478																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(2032-2034)tcC>tcT		amyloid beta (A4) precursor protein-binding, family A, member 1							101.0	88.0	92.0					9																	72064647		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72064647G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2034C>T	9.37:g.72064647G>A							p.S678S	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			10	2256	-			678			PDZ 1.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.2034C>T	CCDS6630.1																																																																																				0.478	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		83	348	0	0	0	1	0	83	348				
CEBPZ	10153	broad.mit.edu	37	2	37454764	37454764	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454764G>T	ENST00000234170.5	-	2	1717	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	524					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAAAGCCTGGACACTGGTAT	0.378																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1570-1572)gtC>gtA		CCAAT/enhancer binding protein (C/EBP), zeta							112.0	111.0	111.0					2																	37454764		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454764G>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1572C>A	2.37:g.37454764G>T							p.V524V	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1717	-		all_hematologic(82;0.21)	524					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.1572C>A	CCDS1787.1																																																																																				0.378	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		112	521	1	0	1.43872e-54	1	1.79623e-54	112	521				
PLS1	5357	broad.mit.edu	37	3	142408575	142408575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142408575C>T	ENST00000337777.3	+	10	1310	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V	PLS1_ENST00000497002.1_Missense_Mutation_p.A366V|PLS1_ENST00000457734.2_Missense_Mutation_p.A366V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	366	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTAATTTAGCTTTTGTAGCT	0.408																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(1096-1098)gCt>gTt		plastin 1							121.0	115.0	117.0					3																	142408575		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142408575C>T	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1097C>T	3.37:g.142408575C>T	ENSP00000336831:p.Ala366Val					PLS1_ENST00000497002.1_Missense_Mutation_p.A366V|PLS1_ENST00000457734.2_Missense_Mutation_p.A366V	p.A366V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			10	1310	+			366			Actin-binding 1.|CH 2.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.1097C>T	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370985	0.95923	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95272	-3.66;-3.66;-3.66	5.73	5.73	0.89815	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.94847	3.59	0.80722	D	1	D	0.61080	0.989	P	0.48982	0.597	D	0.97934	1.0322	10	0.87932	D	0	-14.021	19.8966	0.96963	0.0:1.0:0.0:0.0	.	366	Q14651	PLSI_HUMAN	V	366	ENSP00000387890:A366V;ENSP00000336831:A366V;ENSP00000418700:A366V	ENSP00000336831:A366V	A	+	2	0	PLS1	143891265	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.748000	0.85085	2.700000	0.92200	0.655000	0.94253	GCT		0.408	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		83	349	0	0	0	1	0	83	349				
IKBKB	3551	broad.mit.edu	37	8	42178258	42178258	+	Silent	SNP	C	C	T	rs202131707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42178258C>T	ENST00000520810.1	+	16	1770	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	IKBKB_ENST00000379708.3_Silent_p.N305N|IKBKB_ENST00000416505.2_Silent_p.N469N|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.N526N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	528					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATTAGGAGAACGAAGTGAAAC	0.567																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1582-1584)aaC>aaT		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)	C	,,	0,4406		0,0,2203	81.0	82.0	82.0		1578,1407,1584	-8.3	0.9	8		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKB	NM_001190720.2,NM_001242778.1,NM_001556.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	526/755,469/698,528/757	42178258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42178258C>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1584C>T	8.37:g.42178258C>T						IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.N526N|IKBKB_ENST00000416505.2_Silent_p.N469N|IKBKB_ENST00000379708.3_Silent_p.N305N	p.N528N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		16	1770	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	528					B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	c.1584C>T	CCDS6128.1																																																																																				0.567	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			95	412	0	0	0	1	0	95	412				
STAB2	55576	broad.mit.edu	37	12	104133248	104133248	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104133248T>C	ENST00000388887.2	+	54	5958		c.e54+2			NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAACCAAAGGTAATTAAGACT	0.443																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.e54+2		stabilin 2							103.0	99.0	100.0					12																	104133248		2203	4300	6503	SO:0001630	splice_region_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104133248T>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5754+2T>C	12.37:g.104133248T>C								NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			54	5958	+									Splice_Site	SNP	ENST00000388887.2	37		CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232311	0.79688	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7056	0.69189	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB2	102657378	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.203000	0.65174	2.053000	0.61076	0.533000	0.62120	.		0.443	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Intron	57	245	0	0	0	1	0	57	245				
AHCYL1	10768	broad.mit.edu	37	1	110555585	110555585	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110555585A>C	ENST00000369799.5	+	5	911	c.544A>C	c.(544-546)Act>Cct	p.T182P	AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	182					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CATCTACTCAACTCAGAATGA	0.473																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(544-546)Act>Cct		adenosylhomocysteinase-like 1							95.0	83.0	87.0					1																	110555585		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110555585A>C	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.544A>C	1.37:g.110555585A>C	ENSP00000358814:p.Thr182Pro					AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P|AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P	p.T182P	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	5	911	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	182					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.544A>C	CCDS818.1	.	.	.	.	.	.	.	.	.	.	A	34	5.306786	0.95629	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.82526	-1.62;-1.62;-1.62	6.07	6.07	0.98685	S-adenosyl-L-homocysteine hydrolase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94951	0.8367	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97115	0.9807	10	0.87932	D	0	-17.5851	16.6406	0.85098	1.0:0.0:0.0:0.0	.	182	O43865	SAHH2_HUMAN	P	182;135;135	ENSP00000358814:T182P;ENSP00000352092:T135P;ENSP00000377238:T135P	ENSP00000352092:T135P	T	+	1	0	AHCYL1	110357108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.313000	0.96297	2.326000	0.78906	0.533000	0.62120	ACT		0.473	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			31	128	0	0	0	1	0	31	128				
ALG10B	144245	broad.mit.edu	37	12	38710827	38710827	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38710827G>A	ENST00000308742.4	+	1	448	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ALG10B_ENST00000551464.1_Silent_p.Q44Q	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	44					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACCTGCCTCAGGCGCAGCGCT	0.632																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(130-132)caG>caA		ALG10B, alpha-1,2-glucosyltransferase							147.0	155.0	152.0					12																	38710827		2203	4300	6503	SO:0001819	synonymous_variant	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38710827G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.132G>A	12.37:g.38710827G>A						ALG10B_ENST00000551464.1_Silent_p.Q44Q	p.Q44Q	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			1	448	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	44					B2RPF4	Silent	SNP	ENST00000308742.4	37	c.132G>A	CCDS31772.1																																																																																				0.632	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		217	1018	0	0	0	1	0	217	1018				
GPR125	166647	broad.mit.edu	37	4	22425825	22425825	+	Missense_Mutation	SNP	C	C	T	rs564893051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22425825C>T	ENST00000334304.5	-	11	1863	c.1594G>A	c.(1594-1596)Gtt>Att	p.V532I	GPR125_ENST00000502482.1_Missense_Mutation_p.V532I|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.V306I	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	532					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTTGAATAAACGTGAGCTCCA	0.483																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1594-1596)Gtt>Att		G protein-coupled receptor 125							55.0	51.0	52.0					4																	22425825		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22425825C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1594G>A	4.37:g.22425825C>T	ENSP00000334952:p.Val532Ile					GPR125_ENST00000508133.1_Missense_Mutation_p.V306I|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.V532I	p.V532I	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			11	1863	-		Breast(46;0.198)	532					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1594G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077921	0.55753	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.56444	0.66;0.46	5.52	5.52	0.82312	.	0.114155	0.64402	D	0.000014	T	0.46737	0.1408	L	0.36672	1.1	0.48830	D	0.999713	P;P;D;D	0.58970	0.589;0.608;0.973;0.984	B;B;B;B	0.43301	0.105;0.18;0.415;0.178	T	0.33650	-0.9860	10	0.20046	T	0.44	-14.6578	19.4319	0.94775	0.0:1.0:0.0:0.0	.	407;532;306;532	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	I	532;306;532	ENSP00000334952:V532I;ENSP00000421006:V532I	ENSP00000334952:V532I	V	-	1	0	GPR125	22034923	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	5.220000	0.65267	2.599000	0.87857	0.561000	0.74099	GTT		0.483	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	196	0	0	0	1	0	5	196				
CCR1	1230	broad.mit.edu	37	3	46245532	46245532	+	Silent	SNP	G	G	A	rs570245777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46245532G>A	ENST00000296140.3	-	2	398	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	91					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTGTAGTCGATCCAGAAGG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		22539	0.0		0.0	False		,,,				2504	0.001					ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(271-273)atC>atT		chemokine (C-C motif) receptor 1							149.0	142.0	144.0					3																	46245532		2203	4300	6503	SO:0001819	synonymous_variant	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245532G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.273C>T	3.37:g.46245532G>A						CCR3_ENST00000357422.2_Intron	p.I91I	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	398	-			91					Q86VA9	Silent	SNP	ENST00000296140.3	37	c.273C>T	CCDS2737.1																																																																																				0.453	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		86	324	0	0	0	1	0	86	324				
DOK3	79930	broad.mit.edu	37	5	176931297	176931297	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176931297C>A	ENST00000357198.4	-	6	1182	c.1178G>T	c.(1177-1179)gGc>gTc	p.G393V	DOK3_ENST00000501403.2_Missense_Mutation_p.G337V|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	393	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTGCTCATTGCCTGGGGGCCC	0.697																																						ENST00000501403.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(1009-1011)gGc>gTc		docking protein 3							17.0	19.0	18.0					5																	176931297		2197	4300	6497	SO:0001583	missense	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931297C>A	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1178G>T	5.37:g.176931297C>A	ENSP00000349727:p.Gly393Val					DOK3_ENST00000357198.4_Missense_Mutation_p.G393V|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron	p.G337V			Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1359	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	393			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	c.1010G>T	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.583989	0.00872	.	.	ENSG00000146094	ENST00000357198;ENST00000501403	T;T	0.27557	2.35;1.66	3.85	-7.33	0.01431	.	2.907560	0.01601	N	0.022041	T	0.18759	0.0450	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11966	-1.0566	10	0.28530	T	0.3	-7.9429	10.3185	0.43751	0.0:0.346:0.4939:0.1601	.	393	Q7L591	DOK3_HUMAN	V	393;337	ENSP00000349727:G393V;ENSP00000421688:G337V	ENSP00000349727:G393V	G	-	2	0	DOK3	176863903	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.918000	0.04021	-1.744000	0.01338	0.306000	0.20318	GGC		0.697	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		7	114	1	0	0.00198382	1	0.00200138	7	114				
TMCC2	9911	broad.mit.edu	37	1	205210944	205210944	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205210944C>T	ENST00000358024.3	+	2	908	c.519C>T	c.(517-519)ggC>ggT	p.G173G	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.G95G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	173						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			gcagtgggggcggcagcagcg	0.736																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(517-519)ggC>ggT		transmembrane and coiled-coil domain family 2							6.0	8.0	8.0					1																	205210944		2018	3993	6011	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205210944C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.519C>T	1.37:g.205210944C>T						TMCC2_ENST00000545499.1_Silent_p.G95G|TMCC2_ENST00000495538.1_3'UTR	p.G173G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	908	+	Breast(84;0.0871)		173					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.519C>T	CCDS30984.1																																																																																				0.736	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		28	88	0	0	0	1	0	28	88				
MYO1A	4640	broad.mit.edu	37	12	57431699	57431699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57431699G>A	ENST00000442789.2	-	19	2202	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*|MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	639	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAGCAATCGGTACCTTTCC	0.627																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1915-1917)Cga>Tga		myosin IA							53.0	52.0	52.0					12																	57431699		2203	4300	6503	SO:0001587	stop_gained	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57431699G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1915C>T	12.37:g.57431699G>A	ENSP00000393392:p.Arg639*					MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*	p.R639*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			19	2202	-			639			Myosin head-like.		Q9UQD7	Nonsense_Mutation	SNP	ENST00000442789.2	37	c.1915C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	38	7.067101	0.98040	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	.	.	.	5.13	3.09	0.35607	.	0.070096	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	11.0791	0.48049	0.0:0.0:0.666:0.334	.	.	.	.	X	639;639;477	.	ENSP00000300119:R639X	R	-	1	2	MYO1A	55717966	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	3.906000	0.56340	2.396000	0.81511	0.655000	0.94253	CGA		0.627	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		42	197	0	0	0	1	0	42	197				
MYH11	4629	broad.mit.edu	37	16	15826526	15826526	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15826526G>T	ENST00000300036.5	-	27	3655	c.3546C>A	c.(3544-3546)gcC>gcA	p.A1182A	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Silent_p.A1189A|MYH11_ENST00000452625.2_Silent_p.A1189A|MYH11_ENST00000576790.2_Silent_p.A1182A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1182					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCATCCAGGGCCTTCTTCA	0.597			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(3544-3546)gcC>gcA		myosin, heavy chain 11, smooth muscle							181.0	131.0	148.0					16																	15826526		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15826526G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3546C>A	16.37:g.15826526G>T						MYH11_ENST00000300036.5_Silent_p.A1182A|MYH11_ENST00000452625.2_Silent_p.A1189A|MYH11_ENST00000396324.3_Silent_p.A1189A|MYH11_ENST00000576790.1_Silent_p.A1182A|AF001548.5_ENST00000574212.1_RNA	p.A1182A	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			27	3652	-			1182					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.3546C>A	CCDS10565.1																																																																																				0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		105	402	1	0	3.88716e-44	1	4.75385e-44	105	402				
SPEN	23013	broad.mit.edu	37	1	16255163	16255163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16255163C>T	ENST00000375759.3	+	11	2632	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	810	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACGCTTAATACGGAAGGAAAA	0.423																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2428-2430)Cgg>Tgg		spen family transcriptional repressor							81.0	85.0	84.0					1																	16255163		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255163C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2428C>T	1.37:g.16255163C>T	ENSP00000364912:p.Arg810Trp						p.R810W	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2632	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	810			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2428C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428832	0.43122	.	.	ENSG00000065526	ENST00000375759	T	0.12672	2.66	4.89	2.76	0.32466	.	.	.	.	.	T	0.11495	0.0280	L	0.56769	1.78	0.52099	D	0.999943	P	0.48694	0.914	B	0.35182	0.197	T	0.05920	-1.0856	9	0.87932	D	0	-8.5576	7.0484	0.25059	0.4093:0.4772:0.0:0.1135	.	810	Q96T58	MINT_HUMAN	W	810	ENSP00000364912:R810W	ENSP00000364912:R810W	R	+	1	2	SPEN	16127750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.142000	0.50601	0.481000	0.27557	0.563000	0.77884	CGG		0.423	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		45	393	0	0	0	1	0	45	393				
NOX1	27035	broad.mit.edu	37	X	100104325	100104325	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100104325C>A	ENST00000372966.3	-	11	1592	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G426C|NOX1_ENST00000217885.5_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	463	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CCCACTTTGCCTAATTCCTCC	0.448																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1387-1389)Ggc>Tgc		NADPH oxidase 1							112.0	74.0	87.0					X																	100104325		2203	4300	6503	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100104325C>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1387G>T	X.37:g.100104325C>A	ENSP00000362057:p.Gly463Cys					NOX1_ENST00000372960.4_Missense_Mutation_p.G426C|NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372964.1_Intron	p.G463C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			11	1592	-			463			Interaction with NOXO1.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1387G>T	CCDS14474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.78|17.78	3.474228|3.474228	0.63737|0.63737	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000372966;ENST00000372960;ENST00000372957|ENST00000427768	D;D|.	0.96232|.	-3.87;-3.95|.	4.05|4.05	4.05|4.05	0.47172|0.47172	Ferric reductase, NAD binding (1);|.	0.252743|.	0.38492|.	N|.	0.001673|.	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.80103|0.80103	-0.1522|-0.1522	10|5	0.38643|.	T|.	0.18|.	-8.1455|-8.1455	14.5632|14.5632	0.68156|0.68156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;463|.	A6NGA6;Q9Y5S8|.	.;NOX1_HUMAN|.	C|M	463;426;152|147	ENSP00000362057:G463C;ENSP00000362051:G426C|.	ENSP00000362048:G152C|.	G|R	-|-	1|2	0|0	NOX1|NOX1	99990981|99990981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	3.965000|3.965000	0.56788|0.56788	1.866000|1.866000	0.54105|0.54105	0.544000|0.544000	0.68410|0.68410	GGC|AGG		0.448	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		56	154	1	0	1.11015e-26	1	1.28132e-26	56	154				
SCN2A	6326	broad.mit.edu	37	2	166231448	166231448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231448G>T	ENST00000375437.2	+	22	4516	c.4226G>T	c.(4225-4227)gGa>gTa	p.G1409V	SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V|SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1409					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATAACGTAGGACTTGGATAT	0.348																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4225-4227)gGa>gTa		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						52.0	51.0	51.0					2																	166231448		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231448G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4226G>T	2.37:g.166231448G>T	ENSP00000364586:p.Gly1409Val					SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V	p.G1409V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			22	4516	+			1409					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4226G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091442	0.55968	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	4.67	4.67	0.58626	Ion transport (1);	0.069003	0.56097	D	0.000037	D	0.98902	0.9628	H	0.95645	3.7	0.80722	D	1	D;P	0.60160	0.987;0.945	D;D	0.68765	0.96;0.933	D	0.99675	1.0997	10	0.87932	D	0	.	17.9467	0.89040	0.0:0.0:1.0:0.0	.	1409;1409	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1409	ENSP00000364586:G1409V;ENSP00000349973:G1409V;ENSP00000283256:G1409V;ENSP00000364576:G1409V	ENSP00000283256:G1409V	G	+	2	0	SCN2A	165939694	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	7.885000	0.87282	2.291000	0.77112	0.655000	0.94253	GGA		0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		48	192	1	0	1.06522e-23	1	1.21267e-23	48	192				
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5755-5757)gCg>gTg		ankyrin repeat domain 11							19.0	24.0	22.0					16																	89347194		2159	4237	6396	SO:0001583	missense	29123					nucleus		g.chr16:89347194G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5756C>T	16.37:g.89347194G>A	ENSP00000301030:p.Ala1919Val					ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6216	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1919			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5756C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.851632	0.71719	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43688	0.94;0.94	4.98	4.98	0.66077	.	0.105490	0.37715	N	0.001964	T	0.48466	0.1501	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.54815	0.761	T	0.51601	-0.8685	10	0.62326	D	0.03	.	17.8938	0.88880	0.0:0.0:1.0:0.0	.	1919	Q6UB99	ANR11_HUMAN	V	1919	ENSP00000301030:A1919V;ENSP00000367581:A1919V	ENSP00000301030:A1919V	A	-	2	0	ANKRD11	87874695	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	5.064000	0.64338	2.301000	0.77427	0.450000	0.29827	GCG		0.677	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		61	334	0	0	0	1	0	61	334				
GBP5	115362	broad.mit.edu	37	1	89727941	89727941	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89727941G>T	ENST00000370459.3	-	10	1736	c.1609C>A	c.(1609-1611)Ctg>Atg	p.L537M	GBP5_ENST00000343435.5_Missense_Mutation_p.L537M|GBP5_ENST00000471171.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	537	Required for tetramerization. {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGCTCTGCCAGCCAATTTTGT	0.468																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1609-1611)Ctg>Atg		guanylate binding protein 5							246.0	210.0	222.0					1																	89727941		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89727941G>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1609C>A	1.37:g.89727941G>T	ENSP00000359488:p.Leu537Met					RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.L537M	p.L537M	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	11	2145	-			537					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1609C>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794136	0.31777	.	.	ENSG00000154451	ENST00000343435;ENST00000370459	T;T	0.57595	0.39;0.39	4.86	-6.53	0.01866	Guanylate-binding protein, C-terminal (3);	2.711920	0.01238	N	0.008520	T	0.20536	0.0494	L	0.41124	1.26	0.09310	N	1	P	0.44478	0.836	P	0.45577	0.486	T	0.31280	-0.9949	10	0.35671	T	0.21	2.8724	0.2147	0.00160	0.3135:0.2222:0.2393:0.2251	.	537	Q96PP8	GBP5_HUMAN	M	537	ENSP00000340396:L537M;ENSP00000359488:L537M	ENSP00000340396:L537M	L	-	1	2	GBP5	89500529	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.974000	0.03794	-1.049000	0.03234	-0.196000	0.12772	CTG		0.468	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		115	518	1	0	6.83383e-50	1	8.46023e-50	115	518				
ERLIN1	10613	broad.mit.edu	37	10	101912014	101912014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101912014G>A	ENST00000421367.2	-	11	3628	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_ENST00000407654.3_Silent_p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	305					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGGAGTCCACGAACATGTTAG	0.458																																						ENST00000421367.2																			0											c.(919-921)ttC>ttT		ER lipid raft associated 1							120.0	116.0	117.0					10																	101912014		2203	4300	6503	SO:0001819	synonymous_variant	10613				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr10:101912014G>A	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.921C>T	10.37:g.101912014G>A						ERLIN1_ENST00000407654.3_Silent_p.F307F	p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)	11	3628	-		Colorectal(252;0.234)	305					B0QZ42|Q53HV0	Silent	SNP	ENST00000421367.2	37	c.921C>T	CCDS7487.2																																																																																				0.458	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		90	313	0	0	0	1	0	90	313				
GAS5-AS1	100506046	broad.mit.edu	37	1	173833348	173833348	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173833348A>G	ENST00000602767.1	+	0	1388				GAS5_ENST00000363146.1_RNA|GAS5_ENST00000364822.2_RNA|GAS5_ENST00000363859.1_RNA|GAS5_ENST00000363840.1_RNA|GAS5_ENST00000365524.1_RNA|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000385578.2_RNA	NR_037605.1				GAS5 antisense RNA 1																		GATTGAGATCATCATGTATTC	0.348																																						ENST00000363840.1																			0																				48.0	46.0	46.0					1																	173833348		875	1991	2866			0							g.chr1:173833348A>G	AF088026		1q25.1	2013-02-15	2012-08-15		ENSG00000270084	ENSG00000270084		"""Long non-coding RNAs"""	44119	non-coding RNA	RNA, long non-coding			"""GAS5 antisense RNA 1 (non-protein coding)"""				Standard	NR_037605		Approved		uc021pfa.1		OTTHUMG00000184089		1.37:g.173833348A>G								NR_003938.1						0	12	-									RNA	SNP	ENST00000602767.1	37																																																																																						0.348	GAS5-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000468012.1	NR_037605		8	175	0	0	0	1	0	8	175				
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356347G>A	ENST00000298119.4	+	3	1708	c.519G>A	c.(517-519)ttG>ttA	p.L173L	LRFN5_ENST00000554171.1_Silent_p.L173L|LRFN5_ENST00000554120.1_Silent_p.L173L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(517-519)ttG>ttA		leucine rich repeat and fibronectin type III domain containing 5							85.0	71.0	76.0					14																	42356347		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356347G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.519G>A	14.37:g.42356347G>A		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.L173L|LRFN5_ENST00000298119.4_Silent_p.L173L	p.L173L			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2951	+			173					B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.519G>A	CCDS9678.1																																																																																				0.413	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		43	175	0	0	0	1	0	43	175				
HMGCLL1	54511	broad.mit.edu	37	6	55304313	55304313	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55304313G>A	ENST00000398661.2	-	9	1061	c.930C>T	c.(928-930)ggC>ggT	p.G310G	HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000274901.4_Silent_p.G280G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000370850.2_Silent_p.G177G|HMGCLL1_ENST00000507223.1_5'UTR	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAAGGGCAGCCACCTAATC	0.423																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(928-930)ggC>ggT		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							103.0	97.0	99.0					6																	55304313		1875	4107	5982	SO:0001819	synonymous_variant	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55304313G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.930C>T	6.37:g.55304313G>A						HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000274901.4_Silent_p.G280G|HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000370850.2_Silent_p.G177G	p.G310G	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		9	1061	-	Lung NSC(77;0.0875)		310					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	ENST00000398661.2	37	c.930C>T	CCDS43475.1																																																																																				0.423	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		68	324	0	0	0	1	0	68	324				
PDK2	5164	broad.mit.edu	37	17	48187434	48187434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48187434G>T	ENST00000503176.1	+	11	1358	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	SAMD14_ENST00000330175.4_3'UTR|PDK2_ENST00000007708.3_Missense_Mutation_p.K335N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	399					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CGGAGCCCAAGAACACGTCCA	0.667									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(1195-1197)aaG>aaT		pyruvate dehydrogenase kinase, isozyme 2							42.0	39.0	40.0					17																	48187434		2202	4299	6501	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48187434G>T	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.1197G>T	17.37:g.48187434G>T	ENSP00000420927:p.Lys399Asn					PDK2_ENST00000007708.3_Missense_Mutation_p.K335N|SAMD14_ENST00000330175.4_3'UTR	p.K399N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			11	1358	+			399					A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.1197G>T	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076449	0.55753	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.48522	0.82;0.81	4.46	4.46	0.54185	.	0.244342	0.34507	N	0.003917	T	0.44030	0.1274	L	0.48642	1.525	0.80722	D	1	B	0.23316	0.083	B	0.19666	0.026	T	0.46665	-0.9175	10	0.66056	D	0.02	-22.2114	16.2651	0.82574	0.0:0.0:1.0:0.0	.	399	Q15119	PDK2_HUMAN	N	335;399	ENSP00000007708:K335N;ENSP00000420927:K399N	ENSP00000007708:K335N	K	+	3	2	PDK2	45542433	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	6.400000	0.73252	2.203000	0.70933	0.462000	0.41574	AAG		0.667	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		13	62	1	0	1.5842e-08	1	1.65642e-08	13	62				
ICAM2	3384	broad.mit.edu	37	17	62082714	62082714	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62082714G>A	ENST00000412356.1	-	4	435	c.81C>T	c.(79-81)ttC>ttT	p.F27F	ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000449662.2_Silent_p.F27F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000418105.1_Silent_p.F27F|ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.F27F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	27					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CGTGTACCTCGAATACCTTCT	0.587																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(79-81)ttC>ttT		intercellular adhesion molecule 2							72.0	55.0	61.0					17																	62082714		2203	4300	6503	SO:0001819	synonymous_variant	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62082714G>A		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.81C>T	17.37:g.62082714G>A						ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000418105.1_Silent_p.F27F|ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.F27F|ICAM2_ENST00000449662.2_Silent_p.F27F	p.F27F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			4	435	-			27					Q14600	Silent	SNP	ENST00000412356.1	37	c.81C>T	CCDS11657.1																																																																																				0.587	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			38	185	0	0	0	1	0	38	185				
LAMA4	3910	broad.mit.edu	37	6	112480017	112480017	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112480017G>A	ENST00000230538.7	-	14	2131	c.1734C>T	c.(1732-1734)aaC>aaT	p.N578N	RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Silent_p.N571N|LAMA4_ENST00000522006.1_Silent_p.N571N|LAMA4_ENST00000424408.2_Silent_p.N571N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	578	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTACTTAGGTTAGATAGTT	0.338																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1732-1734)aaC>aaT		laminin, alpha 4							195.0	175.0	182.0					6																	112480017		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112480017G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1734C>T	6.37:g.112480017G>A						LAMA4_ENST00000424408.2_Silent_p.N571N|LAMA4_ENST00000389463.4_Silent_p.N571N|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.N571N	p.N578N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2131	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	578			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.1734C>T	CCDS43491.1																																																																																				0.338	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		75	270	0	0	0	1	0	75	270				
RARRES3	5920	broad.mit.edu	37	11	63312164	63312164	+	Missense_Mutation	SNP	C	C	T	rs374580366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312164C>T	ENST00000255688.3	+	3	238	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RARRES3_ENST00000439013.2_Missense_Mutation_p.R64C|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	64					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAACGGGAGCGCCTGGAAGA	0.582																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(190-192)Cgc>Tgc		retinoic acid receptor responder (tazarotene induced) 3		C	CYS/ARG	0,3984		0,0,1992	96.0	107.0	103.0		190	0.2	0.0	11		103	1,8339		0,1,4169	no	missense	RARRES3	NM_004585.3	180	0,1,6161	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	64/165	63312164	1,12323	1992	4170	6162	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312164C>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.190C>T	11.37:g.63312164C>T	ENSP00000255688:p.Arg64Cys					RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.R64C|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C	p.R64C			Q9UL19	TIG3_HUMAN			3	243	+			64					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.190C>T	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869850	0.51588	0.0	1.2E-4	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21543	2.0;2.0;2.0	4.29	0.21	0.15231	NC (1);	1.229820	0.05716	N	0.596757	T	0.21921	0.0528	M	0.62723	1.935	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.37174	-0.9717	10	0.66056	D	0.02	.	4.084	0.09939	0.2822:0.4992:0.137:0.0816	.	64	Q9UL19	TIG3_HUMAN	C	64	ENSP00000402943:R64C;ENSP00000255688:R64C;ENSP00000346431:R64C	ENSP00000255688:R64C	R	+	1	0	RARRES3	63068740	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.061000	0.11693	0.054000	0.16065	0.655000	0.94253	CGC		0.582	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			89	718	0	0	0	1	0	89	718				
NEFM	4741	broad.mit.edu	37	8	24772180	24772180	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24772180T>C	ENST00000221166.5	+	1	1656	c.874T>C	c.(874-876)Ttc>Ctc	p.F292L	NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	292	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGAAGAGTGGTTCAAATGCCG	0.597																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(874-876)Ttc>Ctc		neurofilament, medium polypeptide							103.0	85.0	91.0					8																	24772180		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772180T>C	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.874T>C	8.37:g.24772180T>C	ENSP00000221166:p.Phe292Leu					NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR	p.F292L			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	1656	+		Prostate(55;0.157)	292			Coil 2B.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.874T>C	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079353	0.94050	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91295	-2.82;-2.82;-2.82	4.69	4.69	0.59074	Filament (1);	0.000000	0.45361	D	0.000378	D	0.95092	0.8410	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95728	0.8772	10	0.87932	D	0	.	14.435	0.67274	0.0:0.0:0.0:1.0	.	292;292	E7EMV2;P07197	.;NFM_HUMAN	L	292	ENSP00000221166:F292L;ENSP00000427872:F292L;ENSP00000410137:F292L	ENSP00000221166:F292L	F	+	1	0	NEFM	24828085	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.984000	0.88150	1.873000	0.54277	0.383000	0.25322	TTC		0.597	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		19	258	0	0	0	1	0	19	258				
MAGI2	9863	broad.mit.edu	37	7	77885770	77885770	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77885770G>A	ENST00000354212.4	-	10	1790	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	513					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATCAAAGGGCAAAGGGTAG	0.488																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1537-1539)Ccc>Tcc		membrane associated guanylate kinase, WW and PDZ domain containing 2							75.0	63.0	67.0					7																	77885770		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885770G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1537C>T	7.37:g.77885770G>A	ENSP00000346151:p.Pro513Ser					MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S	p.P513S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	1790	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	513					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1537C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082237	0.76528	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.93	5.05	0.67936	PDZ/DHR/GLGF (1);	0.000000	0.36482	U	0.002563	T	0.68210	0.2976	M	0.82193	2.58	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.797;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.959;0.998;0.998;1.0;0.998	T	0.74708	-0.3574	10	0.87932	D	0	.	16.3924	0.83544	0.0:0.1314:0.8686:0.0	.	350;345;513;513;513;513	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	S	513;513;513;513;345;350	ENSP00000405766:P513S;ENSP00000346151:P513S;ENSP00000428389:P513S;ENSP00000441584:P345S;ENSP00000441603:P350S	ENSP00000346151:P513S	P	-	1	0	MAGI2	77723706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.012000	0.88631	1.508000	0.48769	0.555000	0.69702	CCC		0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		24	138	0	0	0	1	0	24	138				
FBXW10	10517	broad.mit.edu	37	17	18653271	18653271	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18653271C>T	ENST00000395665.4	+	3	1092				FBXW10_ENST00000308799.4_Missense_Mutation_p.L303F|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395667.1_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCAGACACCTCCCCTCTTG	0.517																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(907-909)Ctc>Ttc		F-box and WD repeat domain containing 10							46.0	43.0	44.0					17																	18653271		2203	4297	6500	SO:0001627	intron_variant	10517							g.chr17:18653271C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.871+36C>T	17.37:g.18653271C>T						FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron	p.L303F			Q5XX13	FBW10_HUMAN			3	1126	+			293			F-box.		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.907C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	8.396	0.840869	0.16891	.	.	ENSG00000171931	ENST00000308799	T	0.61742	0.08	2.49	0.294	0.15747	.	1.886630	0.04784	U	0.430403	T	0.45276	0.1334	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.38351	-0.9665	9	0.87932	D	0	.	4.4146	0.11450	0.0:0.6185:0.0:0.3815	.	303	Q5XX13-2	.	F	303	ENSP00000310382:L303F	ENSP00000310382:L303F	L	+	1	0	FBXW10	18593996	0.000000	0.05858	0.001000	0.08648	0.237000	0.25408	-0.160000	0.10041	-0.031000	0.13781	0.405000	0.27470	CTC		0.517	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		21	353	0	0	0	1	0	21	353				
ITPR2	3709	broad.mit.edu	37	12	26816642	26816642	+	Silent	SNP	C	C	T	rs539458742	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26816642C>T	ENST00000381340.3	-	15	2105	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	563					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AATCCTGCTGCGAGTGTCTCA	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		16654	0.0		0.0	False		,,,				2504	0.002					ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1687-1689)tcG>tcA		inositol 1,4,5-trisphosphate receptor, type 2							240.0	241.0	240.0					12																	26816642		1874	4108	5982	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26816642C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1689G>A	12.37:g.26816642C>T							p.S563S	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			15	2105	-	Colorectal(261;0.0847)		563					O94773	Silent	SNP	ENST00000381340.3	37	c.1689G>A	CCDS41764.1																																																																																				0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		326	1343	0	0	0	1	0	326	1343				
PSORS1C1	170679	broad.mit.edu	37	6	31084129	31084129	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084129G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.S421S|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GGGAGCAGGGGCTCTGGGAAG	0.597																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1261-1263)agC>agT		corneodesmosin							37.0	41.0	40.0					6																	31084129		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084129G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1461G>A	6.37:g.31084129G>A						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S421S	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1289	-			421			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.1263C>T	CCDS34390.1																																																																																				0.597	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		27	109	0	0	0	1	0	27	109				
MATR3	9782	broad.mit.edu	37	5	138643992	138643992	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138643992T>C	ENST00000394805.3	+	2	1223	c.888T>C	c.(886-888)tgT>tgC	p.C296C	MATR3_ENST00000509990.1_Silent_p.C296C|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000394800.2_Silent_p.C296C|MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000504203.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	296					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCTATATGTGATTTGCCAG	0.383																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(886-888)tgT>tgC		matrin 3							119.0	120.0	119.0					5																	138643992		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643992T>C	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.888T>C	5.37:g.138643992T>C						MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000509990.1_Silent_p.C296C|MATR3_ENST00000394805.3_Silent_p.C296C|MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron	p.C296C			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	1437	+			296					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.888T>C	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	T	2.205	-0.382054	0.04966	.	.	ENSG00000015479	ENST00000515833	.	.	.	5.4	4.23	0.50019	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59568	-0.7430	4	.	.	.	-10.153	10.9343	0.47237	0.0:0.0738:0.0:0.9262	.	.	.	.	A	70	.	.	V	+	2	0	MATR3	138671891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.243000	0.58721	2.171000	0.68590	0.459000	0.35465	GTG		0.383	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		169	708	0	0	0	1	0	169	708				
CROCCP3	114819	broad.mit.edu	37	1	16810905	16810905	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16810905C>T	ENST00000263511.4	-	0	1626					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGAGTCATCCGCGGTGCGCT	0.721																																						ENST00000263511.4																			0																																																			0							g.chr1:16810905C>T	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16810905C>T								NR_023386.1						0	1626	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.721	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		6	41	0	0	0	1	0	6	41				
KANK1	23189	broad.mit.edu	37	9	712587	712587	+	Missense_Mutation	SNP	G	G	T	rs539839243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:712587G>T	ENST00000382303.1	+	7	2473	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.E449D|KANK1_ENST00000382297.2_Missense_Mutation_p.E607D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	607					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCAACACAGAGGAGTCTGTGA	0.507																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(1819-1821)gaG>gaT		KN motif and ankyrin repeat domains 1							183.0	158.0	166.0					9																	712587		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:712587G>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1821G>T	9.37:g.712587G>T	ENSP00000371740:p.Glu607Asp					KANK1_ENST00000382297.2_Missense_Mutation_p.E607D|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.E449D	p.E607D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2473	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	607					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1821G>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706310	0.30232	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.79454	-1.27;-1.27;-1.27	5.96	1.25	0.21368	.	0.219708	0.31909	N	0.006867	T	0.71668	0.3367	L	0.43152	1.355	0.80722	D	1	P;B	0.48911	0.917;0.074	P;B	0.49140	0.601;0.055	T	0.68481	-0.5397	10	0.46703	T	0.11	-0.6817	6.9281	0.24426	0.2122:0.2542:0.5336:0.0	.	607;607	Q5W0W1;Q14678	.;KANK1_HUMAN	D	607;607;607;449	ENSP00000371740:E607D;ENSP00000371734:E607D;ENSP00000371730:E449D	ENSP00000346479:E607D	E	+	3	2	KANK1	702587	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.463000	0.35277	0.815000	0.34398	0.650000	0.86243	GAG		0.507	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		57	295	1	0	9.72345e-25	1	1.11288e-24	57	295				
FSCB	84075	broad.mit.edu	37	14	44974140	44974140	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974140G>T	ENST00000340446.4	-	1	2342	c.2051C>A	c.(2050-2052)tCt>tAt	p.S684Y	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	684						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGGTAGAGACTGAACTTC	0.592																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2050-2052)tCt>tAt		fibrous sheath CABYR binding protein							32.0	39.0	37.0					14																	44974140		2202	4300	6502	SO:0001583	missense	84075					cilium		g.chr14:44974140G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2051C>A	14.37:g.44974140G>T	ENSP00000344579:p.Ser684Tyr						p.S684Y	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2342	-			684					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2051C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296614	0.23650	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15017	2.46	4.69	0.56	0.17279	.	.	.	.	.	T	0.20780	0.0500	L	0.53249	1.67	0.09310	N	1	P	0.49090	0.919	P	0.49597	0.616	T	0.11792	-1.0573	9	0.59425	D	0.04	1.4952	4.7706	0.13153	0.1696:0.0:0.5315:0.2988	.	684	Q5H9T9	FSCB_HUMAN	Y	684;577	ENSP00000344579:S684Y	ENSP00000344579:S684Y	S	-	2	0	FSCB	44043890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.068000	0.14531	0.009000	0.14813	-0.362000	0.07510	TCT		0.592	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		9	184	1	0	5.4927e-09	1	5.7613e-09	9	184				
C11orf1	64776	broad.mit.edu	37	11	111753104	111753104	+	Missense_Mutation	SNP	G	G	A	rs139660891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111753104G>A	ENST00000260276.3	+	2	395	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T|C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000530214.1_Missense_Mutation_p.A20T|ALG9_ENST00000524880.1_5'Flank	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	20						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACAGAACCTCGCCTGTTTCCT	0.428																																						ENST00000260276.3																			0				kidney(2)|lung(3)	5						c.(58-60)Gcc>Acc		chromosome 11 open reading frame 1		G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	87.0	74.0	78.0		58	-5.8	0.0	11	dbSNP_134	78	1,8593	1.2+/-3.3	0,1,4296	no	missense	C11orf1	NM_022761.2	58	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	benign	20/151	111753104	2,12994	2201	4297	6498	SO:0001583	missense	64776					nucleus		g.chr11:111753104G>A	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.58G>A	11.37:g.111753104G>A	ENSP00000260276:p.Ala20Thr					C11orf1_ENST00000530214.1_Missense_Mutation_p.A20T|C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T	p.A20T	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	2	395	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	20					Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	37	c.58G>A	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375681	0.42105	2.27E-4	1.16E-4	ENSG00000137720	ENST00000260276;ENST00000530214;ENST00000530799;ENST00000529270	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.33	-5.8	0.02347	.	1.066680	0.07277	N	0.870122	T	0.10208	0.0250	N	0.16478	0.41	0.09310	N	1	B;B	0.22346	0.068;0.004	B;B	0.15484	0.013;0.002	T	0.29305	-1.0016	10	0.24483	T	0.36	3.966	1.2162	0.01915	0.361:0.0899:0.1949:0.3542	.	60;20	E9PMC1;Q9H5F2	.;CK001_HUMAN	T	20;20;36;60	ENSP00000260276:A20T;ENSP00000435864:A20T;ENSP00000432128:A36T;ENSP00000431180:A60T	ENSP00000260276:A20T	A	+	1	0	C11orf1	111258314	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	-1.306000	0.02735	-0.812000	0.04363	0.561000	0.74099	GCC		0.428	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		46	199	0	0	0	1	0	46	199				
ZNF2	7549	broad.mit.edu	37	2	95847399	95847399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95847399C>T	ENST00000340539.5	+	5	1288	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	ZNF2_ENST00000398107.2_Missense_Mutation_p.H234Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	276					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCTTACTCGACACCAGAGAAT	0.453																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(700-702)Cac>Tac		zinc finger protein 2							85.0	94.0	91.0					2																	95847399		2185	4294	6479	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95847399C>T	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.826C>T	2.37:g.95847399C>T	ENSP00000345392:p.His276Tyr					ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y|ZNF2_ENST00000340539.5_Missense_Mutation_p.H276Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y	p.H234Y	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	4	1222	+		Ovarian(717;0.00768)	275					A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.700C>T	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562794	0.86335	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.16	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000076	D	0.95799	0.8633	H	0.96777	3.88	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.96945	0.9690	10	0.87932	D	0	-22.5568	16.1933	0.82006	0.0:1.0:0.0:0.0	.	238;234;275	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	Y	234;276;196;238;289	ENSP00000381178:H234Y;ENSP00000345392:H276Y;ENSP00000406017:H196Y;ENSP00000295210:H238Y;ENSP00000411051:H289Y	ENSP00000295210:H238Y	H	+	1	0	ZNF2	95211126	1.000000	0.71417	0.945000	0.38365	0.978000	0.69477	5.881000	0.69706	2.696000	0.92011	0.655000	0.94253	CAC		0.453	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		92	471	0	0	0	1	0	92	471				
PDPR	55066	broad.mit.edu	37	16	70190411	70190411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70190411C>T	ENST00000288050.4	+	19	3226	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*|PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	757					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGCCCTCCTGCAGCAGAAGCA	0.542																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2269-2271)Cag>Tag		pyruvate dehydrogenase phosphatase regulatory subunit							138.0	153.0	148.0					16																	70190411		2079	4225	6304	SO:0001587	stop_gained	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190411C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2269C>T	16.37:g.70190411C>T	ENSP00000288050:p.Gln757*					PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*	p.Q757*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3226	+			757					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Nonsense_Mutation	SNP	ENST00000288050.4	37	c.2269C>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569369	0.28003	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	.	.	.	6.03	5.05	0.67936	.	0.464135	0.24764	N	0.035792	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8745	0.41195	0.2471:0.6157:0.1372:0.0	.	.	.	.	X	757;657;424;102	.	ENSP00000205055:Q424X	Q	+	1	0	PDPR	68747912	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	1.617000	0.36943	2.868000	0.98415	0.557000	0.71058	CAG		0.542	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		74	579	0	0	0	1	0	74	579				
ITIH5	80760	broad.mit.edu	37	10	7683960	7683960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7683960C>T	ENST00000256861.6	-	3	307	c.229G>A	c.(229-231)Gct>Act	p.A77T	ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	77	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTTCAGAAGCTCTGTTCAGC	0.458																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(229-231)Gct>Act		inter-alpha-trypsin inhibitor heavy chain family, member 5							160.0	137.0	144.0					10																	7683960		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7683960C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.229G>A	10.37:g.7683960C>T	ENSP00000256861:p.Ala77Thr					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T|ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T	p.A77T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			3	307	-			77			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.229G>A		.	.	.	.	.	.	.	.	.	.	C	15.61	2.884008	0.51908	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24723	1.84;1.84;1.84	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.494258	0.24231	N	0.040348	T	0.42449	0.1203	.	.	.	0.30257	N	0.793545	P;P	0.49447	0.744;0.924	B;P	0.51945	0.281;0.685	T	0.34453	-0.9828	9	0.59425	D	0.04	-9.8768	19.8445	0.96703	0.0:1.0:0.0:0.0	.	77;77	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	77	ENSP00000256861:A77T;ENSP00000380333:A77T;ENSP00000380332:A77T	ENSP00000256861:A77T	A	-	1	0	ITIH5	7723966	0.929000	0.31497	0.911000	0.35937	0.038000	0.13279	3.230000	0.51286	2.695000	0.91970	0.462000	0.41574	GCT		0.458	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		83	367	0	0	0	1	0	83	367				
CDH10	1008	broad.mit.edu	37	5	24487856	24487856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24487856G>T	ENST00000264463.4	-	12	2790	c.2283C>A	c.(2281-2283)aaC>aaA	p.N761K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	761					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTAATCGTAGTTTTGGTCTC	0.438										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2281-2283)aaC>aaA		cadherin 10, type 2 (T2-cadherin)							162.0	161.0	161.0					5																	24487856		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487856G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2283C>A	5.37:g.24487856G>T	ENSP00000264463:p.Asn761Lys	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.N761K	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2790	-			761					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2283C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535813	0.45176	.	.	ENSG00000040731	ENST00000264463	T	0.76448	-1.02	5.81	2.02	0.26589	Cadherin, cytoplasmic domain (1);	0.131088	0.64402	D	0.000001	T	0.70360	0.3215	L	0.50993	1.605	0.40598	D	0.981552	B	0.15141	0.012	B	0.18263	0.021	T	0.66830	-0.5824	10	0.87932	D	0	.	10.2185	0.43184	0.2733:0.0:0.7267:0.0	.	761	Q9Y6N8	CAD10_HUMAN	K	761	ENSP00000264463:N761K	ENSP00000264463:N761K	N	-	3	2	CDH10	24523613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	0.375000	0.24679	0.655000	0.94253	AAC		0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		152	688	1	0	1.56066e-67	1	1.97729e-67	152	688				
ZNF708	7562	broad.mit.edu	37	19	21476977	21476977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476977G>A	ENST00000356929.3	-	4	988	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AAGGTTTGAGGACCGGTTAAA	0.358																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(790-792)tCc>tTc		zinc finger protein 708							45.0	49.0	48.0					19																	21476977		2160	4279	6439	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476977G>A	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.791C>T	19.37:g.21476977G>A	ENSP00000349401:p.Ser264Phe						p.S264F	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	988	-			264					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.791C>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.758436	0.00084	.	.	ENSG00000182141	ENST00000356929	T	0.08008	3.14	1.05	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	M	0.62723	1.935	0.09310	N	1	B	0.23540	0.087	B	0.20184	0.028	T	0.49214	-0.8963	9	0.09843	T	0.71	.	0.621	0.00778	0.1875:0.3287:0.2088:0.2751	.	264	P17019	ZN708_HUMAN	F	264	ENSP00000349401:S264F	ENSP00000349401:S264F	S	-	2	0	ZNF708	21268817	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.742000	0.01835	-1.500000	0.01819	-1.523000	0.00931	TCC		0.358	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		26	302	0	0	0	1	0	26	302				
UBASH3B	84959	broad.mit.edu	37	11	122669710	122669710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122669710G>A	ENST00000284273.5	+	10	1793	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	473	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCGTCCCTTCGCTGCGTTCAG	0.423																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1417-1419)cGc>cAc		ubiquitin associated and SH3 domain containing B							135.0	121.0	125.0					11																	122669710		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122669710G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1418G>A	11.37:g.122669710G>A	ENSP00000284273:p.Arg473His						p.R473H	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	10	1793	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	473			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.1418G>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627954	0.96671	.	.	ENSG00000154127	ENST00000284273	T	0.77098	-1.07	6.17	6.17	0.99709	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93419	0.6775	10	0.87932	D	0	-2.7987	20.4745	0.99168	0.0:0.0:1.0:0.0	.	473	Q8TF42	UBS3B_HUMAN	H	473	ENSP00000284273:R473H	ENSP00000284273:R473H	R	+	2	0	UBASH3B	122174920	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.200000	0.95010	2.941000	0.99782	0.655000	0.94253	CGC		0.423	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		12	283	0	0	0	1	0	12	283				
ZNF783	100289678	broad.mit.edu	37	7	148979385	148979385	+	Missense_Mutation	SNP	G	G	A	rs539045489	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148979385G>A	ENST00000434415.1	+	6	1755	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GCCCCCGCCCGCCACGGGAGC	0.731																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(1591-1593)cGc>cAc		zinc finger family member 783							4.0	5.0	5.0					7																	148979385		1317	3048	4365	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148979385G>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.1592G>A	7.37:g.148979385G>A	ENSP00000410890:p.Arg531His					ZNF783_ENST00000489518.1_Intron	p.R531H	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		6	1755	+	Melanoma(164;0.15)		531					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.1592G>A	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098918	0.37048	.	.	ENSG00000204946	ENST00000434415	T	0.05996	3.36	4.52	-4.33	0.03677	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.09310	N	0.999998	.	.	.	.	.	.	T	0.42949	-0.9421	7	0.87932	D	0	.	3.8021	0.08763	0.3719:0.0:0.176:0.4522	.	.	.	.	H	531	ENSP00000410890:R531H	ENSP00000410890:R531H	R	+	2	0	ZNF783	148610318	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.792000	0.00766	-0.974000	0.03550	-0.346000	0.07831	CGC		0.731	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		17	36	0	0	0	1	0	17	36				
SRGAP1	57522	broad.mit.edu	37	12	64485152	64485152	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64485152C>T	ENST00000355086.3	+	12	2057	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	511	F-BAR domain.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGGAAACATTCGTCAAGGTAC	0.478																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1531-1533)ttC>ttT		SLIT-ROBO Rho GTPase activating protein 1							80.0	82.0	81.0					12																	64485152		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64485152C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1533C>T	12.37:g.64485152C>T						RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Intron|SRGAP1_ENST00000543397.1_Intron	p.F511F	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	12	2057	+			511			Rho-GAP.		Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1533C>T	CCDS8967.1																																																																																				0.478	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			37	190	0	0	0	1	0	37	190				
INSIG1	3638	broad.mit.edu	37	7	155093360	155093360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155093360G>T	ENST00000340368.4	+	3	708	c.497G>T	c.(496-498)cGc>cTc	p.R166L	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	166					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTCATGCGCTGCATAGCA	0.433																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(496-498)cGc>cTc		insulin induced gene 1							200.0	175.0	184.0					7																	155093360		2203	4300	6503	SO:0001583	missense	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155093360G>T		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.497G>T	7.37:g.155093360G>T	ENSP00000344741:p.Arg166Leu					INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	p.R166L	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	708	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	166					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.497G>T	CCDS5938.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646578	0.96704	.	.	ENSG00000186480	ENST00000340368	T	0.57595	0.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.73975	-0.3813	10	0.51188	T	0.08	.	18.8026	0.92023	0.0:0.0:1.0:0.0	.	166	O15503	INSI1_HUMAN	L	166	ENSP00000344741:R166L	ENSP00000344741:R166L	R	+	2	0	INSIG1	154724293	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.451000	0.97610	2.602000	0.87976	0.655000	0.94253	CGC		0.433	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		138	563	1	0	2.23197e-56	1	2.79295e-56	138	563				
FZD7	8324	broad.mit.edu	37	2	202900639	202900639	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900639C>T	ENST00000286201.1	+	1	1330	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	423					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTGCGGGGCTTCGTGCTGG	0.617											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1267-1269)ggC>ggT		frizzled family receptor 7							81.0	68.0	72.0					2																	202900639		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900639C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1269C>T	2.37:g.202900639C>T			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.G423G	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1330	+			423					O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.1269C>T	CCDS2351.1																																																																																				0.617	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		126	384	0	0	0	1	0	126	384				
SPTA1	6708	broad.mit.edu	37	1	158631185	158631185	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631185C>T	ENST00000368147.4	-	18	2659	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	827					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTTTGGAAGCAATCAGGTCC	0.428																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2479-2481)Gct>Act		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							143.0	134.0	136.0					1																	158631185		1878	4113	5991	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158631185C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2479G>A	1.37:g.158631185C>T	ENSP00000357129:p.Ala827Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.A827T	p.A827T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			18	2659	-	all_hematologic(112;0.0378)		827					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2479G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198257	0.38806	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	4.93	-0.371	0.12525	.	.	.	.	.	T	0.09335	0.0230	N	0.12746	0.255	0.31268	N	0.69208	B	0.06786	0.001	B	0.17979	0.02	T	0.27773	-1.0064	9	0.23302	T	0.38	.	5.7759	0.18279	0.3872:0.4682:0.0:0.1446	.	827	P02549	SPTA1_HUMAN	T	827	ENSP00000357130:A827T;ENSP00000357129:A827T	ENSP00000357129:A827T	A	-	1	0	SPTA1	156897809	0.922000	0.31269	0.083000	0.20561	0.801000	0.45260	0.655000	0.24933	-0.227000	0.09884	0.650000	0.86243	GCT		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		67	384	0	0	0	1	0	67	384				
USP53	54532	broad.mit.edu	37	4	120190845	120190845	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120190845G>A	ENST00000274030.6	+	15	2467		c.e15-1		USP53_ENST00000450251.1_Splice_Site	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTCTTTTACAGCTAAGTTAAG	0.259																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.e11-1		ubiquitin specific peptidase 53							59.0	60.0	60.0					4																	120190845		1796	4054	5850	SO:0001630	splice_region_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120190845G>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1289-1G>A	4.37:g.120190845G>A						USP53_ENST00000274030.6_Splice_Site				Q70EK8	UBP53_HUMAN			11	1832	+									Splice_Site	SNP	ENST00000274030.6	37		CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816201	0.70912	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5008	0.87731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP53	120410293	1.000000	0.71417	0.716000	0.30569	0.937000	0.57800	7.366000	0.79548	2.567000	0.86603	0.561000	0.74099	.		0.259	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	Intron	58	241	0	0	0	1	0	58	241				
HNRNPM	4670	broad.mit.edu	37	19	8555099	8555099	+	IGR	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555099T>G	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Missense_Mutation_p.N662H|PRAM1_ENST00000423345.4_Missense_Mutation_p.N663H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGTGGTTGGTTTTCCAGGGGA	0.687																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1987-1989)Aac>Cac		PML-RARA regulated adaptor molecule 1							28.0	35.0	33.0					19																	8555099		2176	4286	6462	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555099T>G	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555099T>G						PRAM1_ENST00000255612.3_Missense_Mutation_p.N662H	p.N663H			Q96QH2	PRAM_HUMAN			10	2507	-			711			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1987A>C	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.827215	0.50739	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15372	2.43;2.43	3.65	3.65	0.41850	.	0.703582	0.12135	N	0.496399	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	D;D	0.59767	0.965;0.986	P;P	0.54100	0.66;0.742	T	0.11084	-1.0602	10	0.62326	D	0.03	.	8.9598	0.35840	0.0:0.0:0.0:1.0	.	663;711	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	H	662;663	ENSP00000255612:N662H;ENSP00000408342:N663H	ENSP00000255612:N662H	N	-	1	0	PRAM1	8461099	0.008000	0.16893	0.010000	0.14722	0.029000	0.11900	1.219000	0.32479	1.887000	0.54652	0.379000	0.24179	AAC		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			12	61	0	0	0	1	0	12	61				
PCGF6	84108	broad.mit.edu	37	10	105063703	105063703	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105063703G>T	ENST00000369847.3	-	10	1079	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	338					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		CCATAATGAAGGACAAGCAGA	0.408																																						ENST00000369847.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8						c.(1012-1014)Ctt>Att		polycomb group ring finger 6							117.0	103.0	108.0					10																	105063703		2203	4300	6503	SO:0001583	missense	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105063703G>T	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.1012C>A	10.37:g.105063703G>T	ENSP00000358862:p.Leu338Ile					PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I	p.L338I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	10	1079	-		Colorectal(252;0.0747)|Breast(234;0.128)	338					A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	c.1012C>A	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921880	0.73213	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.56275	0.48;0.47	5.34	5.34	0.76211	.	0.066550	0.64402	N	0.000008	T	0.75177	0.3814	M	0.86651	2.83	0.31572	N	0.656259	D;D	0.67145	0.996;0.993	D;D	0.73708	0.978;0.981	T	0.80808	-0.1217	10	0.72032	D	0.01	.	14.5467	0.68035	0.0:0.0:1.0:0.0	.	263;338	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	I	338;263	ENSP00000358862:L338I;ENSP00000338845:L263I	ENSP00000338845:L263I	L	-	1	0	PCGF6	105053693	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	5.024000	0.64090	2.510000	0.84645	0.555000	0.69702	CTT		0.408	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		12	361	1	0	7.03913e-09	1	7.37812e-09	12	361				
DMC1	11144	broad.mit.edu	37	22	38933650	38933650	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38933650G>A	ENST00000216024.2	-	12	1059	c.783C>T	c.(781-783)aaC>aaT	p.N261N	DMC1_ENST00000428462.2_Silent_p.N206N	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	261					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAACAGCCACGTTATATTCTG	0.318								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(781-783)aaC>aaT	Homologous recombination	DNA meiotic recombinase 1							74.0	76.0	75.0					22																	38933650		2203	4300	6503	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38933650G>A	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.783C>T	22.37:g.38933650G>A						DMC1_ENST00000428462.2_Silent_p.N206N	p.N261N	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			12	1059	-	Melanoma(58;0.0286)		261					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.783C>T	CCDS13973.1																																																																																				0.318	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		62	298	0	0	0	1	0	62	298				
PRKCB	5579	broad.mit.edu	37	16	23847551	23847551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23847551C>T	ENST00000321728.7	+	1	230	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C|PRKCB_ENST00000303531.7_Missense_Mutation_p.R19C	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	19					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAGCACCGTGCGCTTCGCCCG	0.706																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(55-57)Cgc>Tgc		protein kinase C, beta	Vitamin E(DB00163)						53.0	46.0	48.0					16																	23847551		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23847551C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.55C>T	16.37:g.23847551C>T	ENSP00000318315:p.Arg19Cys					PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C|PRKCB_ENST00000321728.7_Missense_Mutation_p.R19C	p.R19C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			1	207	+			19					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.55C>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.811300	0.50527	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.88975	-2.45;-2.45	3.71	3.71	0.42584	.	0.166541	0.39020	U	0.001498	D	0.92851	0.7726	M	0.66939	2.045	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.79784	0.966;0.993	D	0.93132	0.6534	10	0.56958	D	0.05	.	13.3189	0.60423	0.0:1.0:0.0:0.0	.	19;19	P05771-2;P05771	.;KPCB_HUMAN	C	19	ENSP00000318315:R19C;ENSP00000305355:R19C	ENSP00000305355:R19C	R	+	1	0	PRKCB	23755052	1.000000	0.71417	0.998000	0.56505	0.038000	0.13279	4.341000	0.59335	1.768000	0.52137	0.558000	0.71614	CGC		0.706	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		86	231	0	0	0	1	0	86	231				
ZNF672	79894	broad.mit.edu	37	1	249142226	249142226	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142226C>T	ENST00000306562.3	+	4	1499	c.753C>T	c.(751-753)ggC>ggT	p.G251G		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACACACGGGCGAGAAGCCGT	0.672																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(751-753)ggC>ggT		zinc finger protein 672							8.0	7.0	7.0					1																	249142226		2163	4206	6369	SO:0001819	synonymous_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142226C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.753C>T	1.37:g.249142226C>T							p.G251G	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1499	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	251					Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	37	c.753C>T	CCDS1638.1																																																																																				0.672	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		6	30	0	0	0	1	0	6	30				
SF3B3	23450	broad.mit.edu	37	16	70557354	70557354	+	5'Flank	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70557354T>G	ENST00000302516.5	+	0	0				COG4_ENST00000393612.4_Missense_Mutation_p.E27D|COG4_ENST00000323786.5_Missense_Mutation_p.E31D|COG4_ENST00000564653.1_Missense_Mutation_p.E31D	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGCGGAGATTTCGGAGCAGC	0.637																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(91-93)gaA>gaC		component of oligomeric golgi complex 4							43.0	47.0	45.0					16																	70557354		2198	4300	6498	SO:0001631	upstream_gene_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70557354T>G	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582		16.37:g.70557354T>G	Exception_encountered					COG4_ENST00000564653.1_Missense_Mutation_p.E31D|COG4_ENST00000393612.4_Missense_Mutation_p.E27D	p.E31D	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			1	114	-		Ovarian(137;0.0694)	27			Interacts with SCFD1.		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.93A>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945891	0.53079	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.46063	0.91;0.88	5.82	3.4	0.38934	.	0.258733	0.44483	D	0.000443	T	0.15132	0.0365	N	0.02539	-0.55	0.20489	N	0.999893	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05699	-1.0869	10	0.37606	T	0.19	-7.5648	4.091	0.09970	0.0:0.1387:0.4325:0.4287	.	26;27	Q6PIW8;Q9H9E3	.;COG4_HUMAN	D	31;27;27	ENSP00000315775:E31D;ENSP00000377236:E27D	ENSP00000315775:E31D	E	-	3	2	COG4	69114855	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.232000	0.17891	2.225000	0.72522	0.460000	0.39030	GAA		0.637	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		69	263	0	0	0	1	0	69	263				
ARL11	115761	broad.mit.edu	37	13	50204565	50204565	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50204565G>T	ENST00000282026.1	+	2	317		c.e2-1		ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11						hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|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;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TTCTCCCCTAGGATTCAGCAG	0.577																																						ENST00000282026.1																			0				kidney(1)|large_intestine(4)|ovary(1)	6						c.e2-1		ADP-ribosylation factor-like 11							53.0	56.0	55.0					13																	50204565		2202	4300	6502	SO:0001630	splice_region_variant	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204565G>T	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.-18-1G>T	13.37:g.50204565G>T						ARL11_ENST00000490932.1_Intron		NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	317	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)							Splice_Site	SNP	ENST00000282026.1	37		CCDS9419.1																																																																																				0.577	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450	Intron	9	462	1	0	0.000274275	1	0.000278163	9	462				
FAM46D	169966	broad.mit.edu	37	X	79699097	79699097	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79699097G>A	ENST00000308293.5	+	3	1298	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	FAM46D_ENST00000538312.1_Silent_p.P353P	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	353										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCCTGCTCCGTACTTTGCAG	0.453																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1057-1059)ccG>ccA		family with sequence similarity 46, member D							73.0	64.0	67.0					X																	79699097		2203	4298	6501	SO:0001819	synonymous_variant	169966							g.chrX:79699097G>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.1059G>A	X.37:g.79699097G>A						FAM46D_ENST00000308293.5_Silent_p.P353P	p.P353P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	1393	+			353					B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	c.1059G>A	CCDS14446.1																																																																																				0.453	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		59	204	0	0	0	1	0	59	204				
ZNF417	147687	broad.mit.edu	37	19	58421078	58421078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58421078C>T	ENST00000312026.5	-	3	732	c.568G>A	c.(568-570)Gct>Act	p.A190T	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.A189T|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCTACAGCAGCTGCTTCTTGG	0.483																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(568-570)Gct>Act		zinc finger protein 417							143.0	144.0	144.0					19																	58421078		1897	4015	5912	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58421078C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.568G>A	19.37:g.58421078C>T	ENSP00000311319:p.Ala190Thr					CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.A189T|ZNF417_ENST00000536263.1_5'UTR	p.A190T	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	732	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	190					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.568G>A	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	7.224	0.597895	0.13939	.	.	ENSG00000173480	ENST00000312026	T	0.06068	3.35	1.86	-2.39	0.06602	.	.	.	.	.	T	0.09423	0.0232	L	0.46157	1.445	0.09310	N	0.999999	P;D	0.61080	0.84;0.989	B;P	0.54856	0.393;0.762	T	0.16897	-1.0387	9	0.56958	D	0.05	.	3.2124	0.06687	0.365:0.3849:0.0:0.2501	.	190;190	F5H0M9;Q8TAU3	.;ZN417_HUMAN	T	190	ENSP00000311319:A190T	ENSP00000311319:A190T	A	-	1	0	ZNF417	63112890	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.686000	0.05161	-0.488000	0.06726	0.298000	0.19748	GCT		0.483	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		207	940	0	0	0	1	0	207	940				
CADM3	57863	broad.mit.edu	37	1	159170620	159170620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159170620G>T	ENST00000368125.4	+	9	1262	c.1105G>T	c.(1105-1107)Ggc>Tgc	p.G369C	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_5'Flank|CADM3_ENST00000368124.4_Missense_Mutation_p.G403C|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	369					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGAGGCAAAAGGCTCCGACGA	0.562																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1105-1107)Ggc>Tgc		cell adhesion molecule 3							95.0	87.0	90.0					1																	159170620		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159170620G>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1105G>T	1.37:g.159170620G>T	ENSP00000357107:p.Gly369Cys					CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.G403C|CADM3_ENST00000497636.1_3'UTR	p.G369C	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			9	1262	+	all_hematologic(112;0.0429)		369					Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.1105G>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607985	0.66558	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.65549	-0.16;-0.02	3.81	3.81	0.43845	Neurexin/syndecan/glycophorin C (1);	0.000000	0.64402	D	0.000001	T	0.78811	0.4342	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84007	0.0346	10	0.87932	D	0	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	369;403	Q8N126;Q8N126-2	CADM3_HUMAN;.	C	403;369	ENSP00000357106:G403C;ENSP00000357107:G369C	ENSP00000357106:G403C	G	+	1	0	CADM3	157437244	1.000000	0.71417	0.992000	0.48379	0.656000	0.38851	8.966000	0.93397	1.965000	0.57142	0.591000	0.81541	GGC		0.562	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		101	404	1	0	3.45148e-53	1	4.30018e-53	101	404				
SPTB	6710	broad.mit.edu	37	14	65253542	65253542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253542C>T	ENST00000389721.5	-	15	3173	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q|SPTB_ENST00000389722.3_Silent_p.Q1047Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1047					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGGGATTGCTGCAGGCCCT	0.612																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(3139-3141)caG>caA		spectrin, beta, erythrocytic							53.0	58.0	56.0					14																	65253542		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253542C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3141G>A	14.37:g.65253542C>T						SPTB_ENST00000389721.5_Silent_p.Q1047Q|SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q	p.Q1047Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3194	-		all_lung(585;4.15e-09)	1047					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.3141G>A	CCDS32100.1																																																																																				0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			14	451	0	0	0	1	0	14	451				
TYW1	55253	broad.mit.edu	37	7	66514984	66514984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66514984G>A	ENST00000359626.5	+	8	1197	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	345					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGGAACATGGGGAGGAATGA	0.373																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1033-1035)Ggg>Agg		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							57.0	57.0	57.0					7																	66514984		2203	4296	6499	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66514984G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1033G>A	7.37:g.66514984G>A	ENSP00000352645:p.Gly345Arg						p.G345R	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			8	1197	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	345					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1033G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190598	0.06299	.	.	ENSG00000198874	ENST00000359626	T	0.17691	2.26	3.92	2.99	0.34606	.	0.653207	0.13336	U	0.395557	T	0.14960	0.0361	L	0.39898	1.24	0.30899	N	0.729503	B	0.25563	0.129	B	0.30029	0.11	T	0.18304	-1.0341	10	0.16420	T	0.52	.	11.1751	0.48595	0.0:0.1887:0.8113:0.0	.	345	Q9NV66	TYW1_HUMAN	R	345	ENSP00000352645:G345R	ENSP00000352645:G345R	G	+	1	0	TYW1	66152419	0.127000	0.22367	0.224000	0.23877	0.076000	0.17211	1.244000	0.32778	0.931000	0.37242	0.563000	0.77884	GGG		0.373	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		41	227	0	0	0	1	0	41	227				
SOX11	6664	broad.mit.edu	37	2	5832882	5832882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832882C>T	ENST00000322002.3	+	1	84	c.29C>T	c.(28-30)gCg>gTg	p.A10V	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	10					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCTTGGAAGCGGAGAGCAAC	0.697																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(28-30)gCg>gTg		SRY (sex determining region Y)-box 11							21.0	23.0	23.0					2																	5832882		2202	4299	6501	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5832882C>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.29C>T	2.37:g.5832882C>T	ENSP00000322568:p.Ala10Val						p.A10V	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	84	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		10					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.29C>T	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.845208	0.51164	.	.	ENSG00000176887	ENST00000322002	D	0.97831	-4.56	3.18	2.15	0.27550	.	0.438607	0.17017	U	0.190244	D	0.90038	0.6889	N	0.08118	0	0.24184	N	0.995577	P	0.35155	0.487	B	0.24155	0.051	D	0.85314	0.1080	10	0.37606	T	0.19	.	6.8925	0.24236	0.0:0.629:0.2562:0.1147	.	10	P35716	SOX11_HUMAN	V	10	ENSP00000322568:A10V	ENSP00000322568:A10V	A	+	2	0	SOX11	5750333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.976000	0.40579	1.455000	0.47813	0.472000	0.43445	GCG		0.697	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		14	109	0	0	0	1	0	14	109				
OR51T1	401665	broad.mit.edu	37	11	4903783	4903783	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903783C>A	ENST00000322049.1	+	1	654	c.654C>A	c.(652-654)ttC>ttA	p.F218L	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.F245L|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATTCTTTTCTCCTATGTCC	0.438																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(733-735)ttC>ttA		olfactory receptor, family 51, subfamily T, member 1							96.0	88.0	91.0					11																	4903783		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903783C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.654C>A	11.37:g.4903783C>A	ENSP00000322679:p.Phe218Leu					MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.F218L|MMP26_ENST00000477339.1_Intron	p.F245L	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	735	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	218					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.735C>A		.	.	.	.	.	.	.	.	.	.	C	2.468	-0.322523	0.05350	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.37584	1.19;1.19	4.99	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.671673	0.13049	N	0.417881	T	0.10508	0.0257	N	0.02111	-0.68	0.33486	D	0.588027	B	0.09022	0.002	B	0.10450	0.005	T	0.38023	-0.9680	10	0.02654	T	1	.	4.0786	0.09916	0.2879:0.4944:0.1396:0.0781	.	218	Q8NGJ9	O51T1_HUMAN	L	245;218	ENSP00000369738:F245L;ENSP00000322679:F218L	ENSP00000322679:F218L	F	+	3	2	OR51T1	4860359	0.003000	0.15002	1.000000	0.80357	0.951000	0.60555	-0.511000	0.06321	0.273000	0.22049	0.484000	0.47621	TTC		0.438	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		56	284	1	0	1.46357e-32	1	1.7291e-32	56	284				
EFCAB11	90141	broad.mit.edu	37	14	90263636	90263636	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90263636C>A	ENST00000316738.7	-	6	471	c.443G>T	c.(442-444)aGc>aTc	p.S148I	EFCAB11_ENST00000555872.1_Missense_Mutation_p.S124I|EFCAB11_ENST00000556609.1_Missense_Mutation_p.S100I|RP11-33N16.3_ENST00000555070.1_RNA	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	148	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						GTCTCTAAAGCTGACGTGACC	0.388																																						ENST00000316738.7																			0				large_intestine(1)|lung(1)	2						c.(442-444)aGc>aTc		EF-hand calcium binding domain 11							167.0	144.0	152.0					14																	90263636		2203	4300	6503	SO:0001583	missense	90141						calcium ion binding	g.chr14:90263636C>A	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.443G>T	14.37:g.90263636C>A	ENSP00000326267:p.Ser148Ile					EFCAB11_ENST00000556609.1_Missense_Mutation_p.S100I|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000555872.1_Missense_Mutation_p.S124I	p.S148I	NM_145231.2	NP_660274.1	Q9BUY7	EFC11_HUMAN			6	471	-			148			EF-hand 3.		B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Missense_Mutation	SNP	ENST00000316738.7	37	c.443G>T	CCDS9887.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311108	0.81358	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000556609	T;T;T	0.77229	-1.08;-1.08;-1.08	6.03	6.03	0.97812	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	M	0.89030	3	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.962	D	0.90764	0.4667	10	0.87932	D	0	-14.5587	15.0707	0.72034	0.0:0.8588:0.1411:0.0	.	148;124	Q9BUY7;Q9BUY7-2	EFC11_HUMAN;.	I	148;124;100	ENSP00000326267:S148I;ENSP00000452320:S124I;ENSP00000452335:S100I	ENSP00000326267:S148I	S	-	2	0	EFCAB11	89333389	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.800000	0.47900	2.861000	0.98227	0.655000	0.94253	AGC		0.388	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309022.2	NM_145231		20	315	1	0	9.95505e-16	1	1.08957e-15	20	315				
MAPK8IP3	23162	broad.mit.edu	37	16	1756509	1756509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1756509C>T	ENST00000250894.4	+	1	326	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	57					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGCTCATGCCGCTGGTGGT	0.642																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(169-171)Ccg>Tcg		mitogen-activated protein kinase 8 interacting protein 3							69.0	66.0	67.0					16																	1756509		2199	4300	6499	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1756509C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.169C>T	16.37:g.1756509C>T	ENSP00000250894:p.Pro57Ser					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	p.P57S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			1	326	+			57					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.169C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319823	0.81469	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.73152	-0.72;-0.72	3.52	3.52	0.40303	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.97110	1.0;1.0;1.0;0.991	D	0.89170	0.3536	10	0.87932	D	0	-23.6301	14.8211	0.70074	0.0:1.0:0.0:0.0	.	57;57;57;57	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	S	57	ENSP00000250894:P57S;ENSP00000348290:P57S	ENSP00000250894:P57S	P	+	1	0	MAPK8IP3	1696510	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.319000	0.79040	1.790000	0.52503	0.185000	0.17295	CCG		0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		47	154	0	0	0	1	0	47	154				
ELAC2	60528	broad.mit.edu	37	17	12903547	12903547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903547G>A	ENST00000338034.4	-	15	1588	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	450					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A450V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AAGCTGCAGCGCCTCAACTAT	0.577																																						ENST00000338034.4																			1	Substitution - Missense(1)	p.A450V(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1348-1350)gCg>gTg		elaC ribonuclease Z 2							65.0	63.0	64.0					17																	12903547		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12903547G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1349C>T	17.37:g.12903547G>A	ENSP00000337445:p.Ala450Val					ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	p.A450V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			15	1588	-			450					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1349C>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860073	0.32884	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.65178	0.29;-0.13;-0.14	5.0	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	M	0.62723	1.935	0.80722	D	1	D;B;D;B;D;D;P;P	0.89917	1.0;0.414;0.999;0.414;1.0;0.987;0.888;0.55	D;B;D;B;D;P;B;B	0.87578	0.998;0.087;0.966;0.041;0.998;0.64;0.28;0.18	T	0.70135	-0.4955	10	0.27785	T	0.31	-20.3679	11.023	0.47728	0.0901:0.0:0.9099:0.0	.	410;433;431;248;450;210;435;78	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	410;450;431;128	ENSP00000405223:A410V;ENSP00000337445:A450V;ENSP00000379291:A431V	ENSP00000337445:A450V	A	-	2	0	ELAC2	12844272	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	7.790000	0.85794	1.345000	0.45676	0.650000	0.86243	GCG		0.577	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			52	231	0	0	0	1	0	52	231				
STK31	56164	broad.mit.edu	37	7	23792445	23792445	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23792445A>C	ENST00000355870.3	+	9	1246	c.1127A>C	c.(1126-1128)gAa>gCa	p.E376A	STK31_ENST00000428484.1_Missense_Mutation_p.E353A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E376A|STK31_ENST00000354639.3_Missense_Mutation_p.E353A	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	376						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACTGAAAGAAATGAGGTAG	0.328																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1057-1059)gAa>gCa		serine/threonine kinase 31							61.0	62.0	62.0					7																	23792445		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792445A>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1127A>C	7.37:g.23792445A>C	ENSP00000348132:p.Glu376Ala					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E376A|STK31_ENST00000355870.3_Missense_Mutation_p.E376A|STK31_ENST00000428484.1_Missense_Mutation_p.E353A	p.E353A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			9	1522	+			376					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1058A>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375457	0.42105	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.94	3.78	0.43462	.	0.293334	0.33199	N	0.005178	T	0.18173	0.0436	M	0.64997	1.995	0.34460	D	0.701686	P;D	0.56521	0.954;0.976	B;P	0.47206	0.437;0.541	T	0.28650	-1.0037	10	0.72032	D	0.01	-14.8871	7.4108	0.27016	0.8993:0.0:0.1007:0.0	.	376;376	B4DZ06;Q9BXU1	.;STK31_HUMAN	A	376;376;353;353	ENSP00000348132:E376A;ENSP00000411852:E376A;ENSP00000346660:E353A;ENSP00000406146:E353A	ENSP00000346660:E353A	E	+	2	0	STK31	23758970	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	1.206000	0.32321	0.844000	0.35094	0.482000	0.46254	GAA		0.328	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		39	177	0	0	0	1	0	39	177				
CLOCK	9575	broad.mit.edu	37	4	56304679	56304679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56304679T>C	ENST00000309964.4	-	21	2381	c.2131A>G	c.(2131-2133)Acc>Gcc	p.T711A	CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A|CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	711	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACTAATTTGGTCACAAGTTGT	0.408																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2131-2133)Acc>Gcc		clock circadian regulator							83.0	68.0	73.0					4																	56304679		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304679T>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2131A>G	4.37:g.56304679T>C	ENSP00000308741:p.Thr711Ala					CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A|CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A	p.T711A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2381	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		711					A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.2131A>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477432	0.63849	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05447	3.44;3.44;3.44	5.73	5.73	0.89815	.	0.093123	0.85682	D	0.000000	T	0.19525	0.0469	M	0.76574	2.34	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.00356	-1.1793	9	.	.	.	.	16.0255	0.80541	0.0:0.0:0.0:1.0	.	711	O15516	CLOCK_HUMAN	A	711	ENSP00000308741:T711A;ENSP00000370723:T711A;ENSP00000426983:T711A	.	T	-	1	0	CLOCK	55999436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.195000	0.70347	0.477000	0.44152	ACC		0.408	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		32	183	0	0	0	1	0	32	183				
CNBD2	140894	broad.mit.edu	37	20	34582960	34582960	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34582960G>A	ENST00000373973.3	+	8	1029	c.856G>A	c.(856-858)Ggc>Agc	p.G286S	CNBD2_ENST00000538900.1_Splice_Site_p.G286S|CNBD2_ENST00000349339.1_Splice_Site_p.G286S			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	286																	CTGTGTTCAGGGCAGCTGTGA	0.517											OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373973.3																			0											c.e8-1		cyclic nucleotide binding domain containing 2							110.0	90.0	97.0					20																	34582960		2203	4300	6503	SO:0001630	splice_region_variant	140894							g.chr20:34582960G>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.856-1G>A	20.37:g.34582960G>A			OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848	CNBD2_ENST00000538900.1_Splice_Site_p.G286_splice|CNBD2_ENST00000349339.1_Splice_Site_p.G286_splice	p.G286_splice							8	1029	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Splice_Site	SNP	ENST00000373973.3	37	c.855_splice		.	.	.	.	.	.	.	.	.	.	G	23.1	4.369411	0.82463	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.94931	-3.56;-3.56;-3.56	4.79	4.79	0.61399	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000002	D	0.96442	0.8839	M	0.72894	2.215	0.37752	D	0.926012	D;D	0.89917	1.0;1.0	D;D	0.77557	0.977;0.99	D	0.96279	0.9205	9	.	.	.	-20.4217	13.6483	0.62294	0.0:0.0:1.0:0.0	.	286;286	Q96M20;Q96M20-2	CT152_HUMAN;.	S	286	ENSP00000363084:G286S;ENSP00000340954:G286S;ENSP00000442729:G286S	.	G	+	1	0	C20orf152	34046374	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.703000	0.54808	2.941000	0.99782	0.655000	0.94253	GGC		0.517	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	Missense_Mutation	39	238	0	0	0	1	0	39	238				
TPTE	7179	broad.mit.edu	37	21	10914364	10914364	+	Splice_Site	SNP	G	G	A	rs147105244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10914364G>A	ENST00000361285.4	-	21	1684	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TPTE_ENST00000298232.7_Splice_Site_p.S434L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S414L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	452	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S434L(1)|p.S452L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTCTTACCGAACATTTTCC	0.323																																						ENST00000298232.7																			2	Substitution - Missense(2)	p.S434L(1)|p.S452L(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e20+1		transmembrane phosphatase with tensin homology							69.0	61.0	64.0					21																	10914364		2203	4297	6500	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10914364G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1356+1C>T	21.37:g.10914364G>A						TPTE_ENST00000342420.5_Splice_Site_p.S414_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S452_splice	p.S434_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	20	1668	-			452			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.1302_splice	CCDS13560.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	6.164	0.398388	0.11696	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85258	-1.96;-1.96;-1.96	2.15	-4.3	0.03710	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.599517	0.17053	U	0.188874	T	0.68559	0.3014	L	0.36672	1.1	0.09310	N	1	B;B;B	0.23442	0.001;0.003;0.085	B;B;B	0.20184	0.005;0.005;0.028	T	0.54476	-0.8288	10	0.39692	T	0.17	3.7407	0.1082	0.00054	0.262:0.2651:0.1721:0.3007	.	414;434;452	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	434;452;414	ENSP00000298232:S434L;ENSP00000355208:S452L;ENSP00000344441:S414L	ENSP00000298232:S434L	S	-	2	0	TPTE	9936235	0.008000	0.16893	0.024000	0.17045	0.133000	0.20885	-1.503000	0.02277	-1.193000	0.02688	0.184000	0.17185	TCG		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	19	220	0	0	0	1	0	19	220				
NKG7	4818	broad.mit.edu	37	19	51875714	51875714	+	Missense_Mutation	SNP	C	C	T	rs374965402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51875714C>T	ENST00000221978.5	-	1	255	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NKG7_ENST00000600427.1_Missense_Mutation_p.D26N|NKG7_ENST00000595217.1_Missense_Mutation_p.D26N	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	26						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AACCAGAAATCGGTGCTCAAA	0.612																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(76-78)Gat>Aat		natural killer cell group 7 sequence		C	ASN/ASP	0,4406		0,0,2203	83.0	83.0	83.0		76	-1.0	0.5	19		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKG7	NM_005601.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	26/166	51875714	1,13005	2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875714C>T		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.76G>A	19.37:g.51875714C>T	ENSP00000221978:p.Asp26Asn					NKG7_ENST00000595217.1_Missense_Mutation_p.D26N|NKG7_ENST00000600427.1_Missense_Mutation_p.D26N	p.D26N	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	255	-		all_neural(266;0.0199)	26						Missense_Mutation	SNP	ENST00000221978.5	37	c.76G>A	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435883	0.43224	0.0	1.16E-4	ENSG00000105374	ENST00000221978	D	0.89552	-2.53	4.98	-1.04	0.10068	.	0.464649	0.18207	N	0.148306	T	0.79246	0.4413	L	0.39397	1.21	0.23681	N	0.997127	B	0.28850	0.225	B	0.25759	0.063	T	0.63637	-0.6592	10	0.20519	T	0.43	0.9973	7.6275	0.28220	0.0:0.4564:0.0:0.5436	.	26	Q16617	NKG7_HUMAN	N	26	ENSP00000221978:D26N	ENSP00000221978:D26N	D	-	1	0	NKG7	56567526	0.001000	0.12720	0.452000	0.26994	0.434000	0.31775	-0.128000	0.10531	-0.229000	0.09854	0.561000	0.74099	GAT		0.612	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		128	416	0	0	0	1	0	128	416				
DNAJA1	3301	broad.mit.edu	37	9	33029948	33029948	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33029948C>A	ENST00000330899.4	+	4	559	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	126					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AACAAGAAAACTGGCTCTGCA	0.318																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(376-378)Ctg>Atg		DnaJ (Hsp40) homolog, subfamily A, member 1							101.0	102.0	101.0					9																	33029948		2203	4299	6502	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33029948C>A	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.376C>A	9.37:g.33029948C>A	ENSP00000369127:p.Leu126Met					DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	p.L126M	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	4	559	+			126					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.376C>A	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940845	0.73557	.	.	ENSG00000086061	ENST00000330899	T	0.63255	-0.03	5.16	4.26	0.50523	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.76575	0.95;0.988	T	0.77864	-0.2429	10	0.87932	D	0	-10.4543	11.8893	0.52620	0.0:0.9141:0.0:0.0859	.	126;126	Q86TL9;P31689	.;DNJA1_HUMAN	M	126	ENSP00000369127:L126M	ENSP00000369127:L126M	L	+	1	2	DNAJA1	33019948	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.001000	0.57046	1.321000	0.45227	0.462000	0.41574	CTG		0.318	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			9	501	1	0	0.00621372	1	0.0062537	9	501				
NBPF22P	285622	broad.mit.edu	37	5	85578656	85578656	+	RNA	SNP	C	C	T	rs531869928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85578656C>T	ENST00000590707.1	+	0	379					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		CCAGGAATTGCGCTCCCAGCT	0.512													c|||	1	0.000199681	0.0	0.0	5008	,	,		19204	0.0		0.0	False		,,,				2504	0.001					ENST00000590707.1																			0																																																			0							g.chr5:85578656C>T	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85578656C>T								NR_003719.2						0	379	+									RNA	SNP	ENST00000590707.1	37																																																																																						0.512	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	XM_208333		60	300	0	0	0	1	0	60	300				
DOCK3	1795	broad.mit.edu	37	3	51251556	51251556	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51251556T>G	ENST00000266037.9	+	14	1153	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	377					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGCAGGTCTTATCATTTCT	0.368																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1129-1131)cTt>cGt		dedicator of cytokinesis 3							103.0	97.0	99.0					3																	51251556		1863	4121	5984	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51251556T>G	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1130T>G	3.37:g.51251556T>G	ENSP00000266037:p.Leu377Arg						p.L377R	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	14	1153	+			377					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1130T>G	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412551	0.83340	.	.	ENSG00000088538	ENST00000266037	T	0.09163	3.01	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.48387	-0.9040	10	0.87932	D	0	.	15.6362	0.76953	0.0:0.0:0.0:1.0	.	377	Q8IZD9	DOCK3_HUMAN	R	377	ENSP00000266037:L377R	ENSP00000266037:L377R	L	+	2	0	DOCK3	51226596	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.483000	0.81158	2.155000	0.67459	0.533000	0.62120	CTT		0.368	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		10	144	0	0	0	1	0	10	144				
IRAK1BP1	134728	broad.mit.edu	37	6	79595126	79595126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79595126G>A	ENST00000369940.2	+	2	452	c.347G>A	c.(346-348)aGg>aAg	p.R116K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	116					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGGATTTTAGGAGAGTGGAA	0.318																																						ENST00000369940.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12						c.(346-348)aGg>aAg		interleukin-1 receptor-associated kinase 1 binding protein 1							101.0	110.0	107.0					6																	79595126		2203	4299	6502	SO:0001583	missense	134728				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr6:79595126G>A	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.347G>A	6.37:g.79595126G>A	ENSP00000358956:p.Arg116Lys					IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	p.R116K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.21)	2	452	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)	116						Missense_Mutation	SNP	ENST00000369940.2	37	c.347G>A	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	g	8.962	0.970850	0.18659	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.28	3.34	0.38264	.	0.370642	0.29015	N	0.013412	T	0.06234	0.0161	N	0.12182	0.205	0.25863	N	0.983809	B	0.02656	0.0	B	0.06405	0.002	T	0.33240	-0.9876	8	.	.	.	.	6.8345	0.23929	0.0998:0.178:0.7222:0.0	.	116	Q5VVH5	IKBP1_HUMAN	K	116	.	.	R	+	2	0	IRAK1BP1	79651845	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.289000	0.51747	1.188000	0.43014	0.650000	0.86243	AGG		0.318	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		62	340	0	0	0	1	0	62	340				
FLNA	2316	broad.mit.edu	37	X	153592400	153592400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592400C>T	ENST00000369850.3	-	15	2506	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	FLNA_ENST00000344736.4_Missense_Mutation_p.S757N|FLNA_ENST00000360319.4_Missense_Mutation_p.S757N|FLNA_ENST00000422373.1_Missense_Mutation_p.S757N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	757					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGAAGGGGCTGTTGGGGAT	0.572																																						ENST00000422373.1																			0				breast(6)	6						c.(2269-2271)aGc>aAc		filamin A, alpha							93.0	100.0	98.0					X																	153592400		2086	4180	6266	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592400C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2270G>A	X.37:g.153592400C>T	ENSP00000358866:p.Ser757Asn					FLNA_ENST00000344736.4_Missense_Mutation_p.S757N|FLNA_ENST00000360319.4_Missense_Mutation_p.S757N|FLNA_ENST00000369850.3_Missense_Mutation_p.S757N	p.S757N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			15	2518	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		757					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2270G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839016	0.91117	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.95	4.95	0.65309	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97453	1.0029	10	0.87932	D	0	.	17.4666	0.87634	0.0:1.0:0.0:0.0	.	757;757	P21333-2;P21333	.;FLNA_HUMAN	N	757;730;757;757;757	ENSP00000353467:S757N;ENSP00000416926:S757N;ENSP00000358866:S757N;ENSP00000358863:S757N	ENSP00000358863:S757N	S	-	2	0	FLNA	153245594	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.815000	0.86186	2.049000	0.60858	0.525000	0.51046	AGC		0.572	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			36	766	0	0	0	1	0	36	766				
TMEFF1	8577	broad.mit.edu	37	9	103312424	103312424	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103312424T>C	ENST00000374879.4	+	7	1189	c.757T>C	c.(757-759)Tat>Cat	p.Y253H	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T|TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	253					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGGACTACAATATCGACCAGA	0.353																																						ENST00000374879.4																			0				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19						c.(757-759)Tat>Cat		transmembrane protein with EGF-like and two follistatin-like domains 1							128.0	120.0	122.0					9																	103312424		2203	4300	6503	SO:0001583	missense	8577							g.chr9:103312424T>C	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.757T>C	9.37:g.103312424T>C	ENSP00000364013:p.Tyr253His					MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T|TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H	p.Y253H	NM_003692.4	NP_003683.2					7	1189	+		Acute lymphoblastic leukemia(62;0.0452)						Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	c.757T>C	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.99|12.99	2.102245|2.102245	0.37145|0.37145	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.58060	.|0.39;0.36	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.341708	.|0.31624	.|N	.|0.007334	T|T	0.35393|0.35393	0.0930|0.0930	N|N	0.14661|0.14661	0.345|0.345	0.36267|0.36267	D|D	0.854935|0.854935	.|P;P	.|0.41366	.|0.747;0.545	.|B;B	.|0.42738	.|0.396;0.149	T|T	0.40478|0.40478	-0.9561|-0.9561	5|10	.|0.16420	.|T	.|0.52	-36.4037|-36.4037	9.3072|9.3072	0.37883|0.37883	0.1602:0.0:0.0:0.8398|0.1602:0.0:0.0:0.8398	.|.	.|253;214	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	T|H	216|214;253	.|ENSP00000334447:Y214H;ENSP00000364013:Y253H	.|ENSP00000334447:Y214H	I|Y	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1	102352245|102352245	0.999000|0.999000	0.42202|0.42202	0.949000|0.949000	0.38748|0.38748	0.979000|0.979000	0.70002|0.70002	3.771000|3.771000	0.55318|0.55318	2.182000|2.182000	0.69389|0.69389	0.477000|0.477000	0.44152|0.44152	ATA|TAT		0.353	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		55	251	0	0	0	1	0	55	251				
DOCK4	9732	broad.mit.edu	37	7	111379299	111379299	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111379299G>A	ENST00000437633.1	-	48	5352	c.5096C>T	c.(5095-5097)gCt>gTt	p.A1699V	DOCK4_ENST00000494651.2_Splice_Site_p.A582V|DOCK4_ENST00000428084.1_Splice_Site_p.A1708V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1699	Ser-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAAAGGAGAAGCTGGGAAGAG	0.527																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.e49-1		dedicator of cytokinesis 4							139.0	141.0	141.0					7																	111379299		2018	4194	6212	SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111379299G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5096-1C>T	7.37:g.111379299G>A						DOCK4_ENST00000437633.1_Splice_Site_p.A1699_splice|DOCK4_ENST00000494651.2_Splice_Site_p.A582_splice	p.A1708_splice			Q8N1I0	DOCK4_HUMAN			49	5395	-		Acute lymphoblastic leukemia(1;0.0441)	1699			Ser-rich.		O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37	c.5122_splice	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409646|4.409646	0.83340|0.83340	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.049928|.	0.85682|.	D|.	0.000000|.	T|T	0.62877|0.62877	0.2464|0.2464	L|L	0.43152|0.43152	1.355|1.355	0.45046|0.45046	D|D	0.998063|0.998063	B;B;P;P;P;D|.	0.67145|.	0.31;0.437;0.593;0.534;0.664;0.996|.	B;B;B;B;B;P|.	0.61658|.	0.175;0.327;0.327;0.175;0.327;0.892|.	T|T	0.55976|0.55976	-0.8055|-0.8055	10|5	0.22109|.	T|.	0.4|.	.|.	16.8106|16.8106	0.85717|0.85717	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.	606;582;1744;1699;1708;12|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4|.	.;.;.;DOCK4_HUMAN;.;.|.	V|F	1687;1708;582;1699;1696|1160;1732	ENSP00000410746:A1708V;ENSP00000440944:A582V;ENSP00000404179:A1699V|.	ENSP00000345432:A1696V|.	A|L	-|-	2|1	0|0	DOCK4|DOCK4	111166535|111166535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.463000|4.463000	0.60128|0.60128	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.527	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Missense_Mutation	48	231	0	0	0	1	0	48	231				
PCDHA2	56146	broad.mit.edu	37	5	140175956	140175956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175956G>A	ENST00000526136.1	+	1	1407	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.P469P|PCDHA2_ENST00000378132.1_Silent_p.P469P|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.667																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1405-1407)ccG>ccA									60.0	65.0	63.0					5																	140175956		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140175956G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1407G>A	5.37:g.140175956G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.P469P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.P469P	p.P469P	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1407	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1407G>A	CCDS54914.1																																																																																				0.667	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		140	536	0	0	0	1	0	140	536				
PELI3	246330	broad.mit.edu	37	11	66243552	66243552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66243552T>C	ENST00000320740.7	+	8	1484	c.1324T>C	c.(1324-1326)Ttc>Ctc	p.F442L	CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.F418L|CTD-3074O7.5_ENST00000602951.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	442					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACCCATGCTTTCCATGCCGC	0.672																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(1252-1254)Ttc>Ctc		pellino E3 ubiquitin protein ligase family member 3							15.0	15.0	15.0					11																	66243552		2186	4250	6436	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66243552T>C	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1324T>C	11.37:g.66243552T>C	ENSP00000322532:p.Phe442Leu					CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.F442L|CTD-3074O7.5_ENST00000533502.1_RNA	p.F418L	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1536	+			442					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.1252T>C	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430539	0.83776	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.50001	0.76;0.76	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.946;0.977	T	0.69661	-0.5085	10	0.62326	D	0.03	-24.7935	11.9441	0.52918	0.0:0.0:0.0:1.0	.	418;442	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	L	418;442	ENSP00000309848:F418L;ENSP00000322532:F442L	ENSP00000322532:F442L	F	+	1	0	PELI3	66000128	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.712000	0.84684	1.919000	0.55581	0.533000	0.62120	TTC		0.672	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		21	73	0	0	0	1	0	21	73				
CYP20A1	57404	broad.mit.edu	37	2	204111546	204111546	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204111546G>T	ENST00000356079.4	+	3	314	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	64						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R64I(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTGCATGAGAGATATGGGCCT	0.428																																						ENST00000356079.4																			1	Substitution - Missense(1)	p.R64I(1)	lung(1)	cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(190-192)aGa>aTa		cytochrome P450, family 20, subfamily A, polypeptide 1							306.0	291.0	296.0					2																	204111546		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204111546G>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.191G>T	2.37:g.204111546G>T	ENSP00000348380:p.Arg64Ile					CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I|CYP20A1_ENST00000461371.1_Intron	p.R64I	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			3	314	+			64					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.191G>T	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.939281	0.73557	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.69561	-0.41;-0.41;-0.41	5.36	4.49	0.54785	.	0.285799	0.39210	N	0.001432	T	0.68622	0.3021	L	0.47716	1.5	0.36984	D	0.89446	D;P	0.55800	0.973;0.769	P;P	0.54815	0.761;0.544	T	0.75124	-0.3428	10	0.87932	D	0	-7.0928	9.1118	0.36732	0.2098:0.0:0.7902:0.0	.	64;64	E9PHG5;Q6UW02	.;CP20A_HUMAN	I	64	ENSP00000348380:R64I;ENSP00000407860:R64I;ENSP00000411341:R64I	ENSP00000348380:R64I	R	+	2	0	CYP20A1	203819791	1.000000	0.71417	0.969000	0.41365	0.912000	0.54170	4.114000	0.57858	1.285000	0.44548	-0.213000	0.12676	AGA		0.428	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		18	1201	1	0	2.32078e-09	1	2.442e-09	18	1201				
TMEM196	256130	broad.mit.edu	37	7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19765216C>T	ENST00000405764.3	-	3	1076	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_ENST00000405844.1_Missense_Mutation_p.R127Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	133						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498																																						ENST00000405844.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(379-381)cGa>cAa		transmembrane protein 196							85.0	75.0	79.0					7																	19765216		2203	4300	6503	SO:0001583	missense	256130					integral to membrane		g.chr7:19765216C>T		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.380G>A	7.37:g.19765216C>T	ENSP00000384234:p.Arg127Gln					TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000405764.3_Missense_Mutation_p.R127Q	p.R127Q			Q5HYL7	TM196_HUMAN			3	1075	-			133					Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	c.380G>A	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983704	0.93044	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.70506	-0.4853	9	0.87932	D	0	13.2727	19.794	0.96471	0.0:1.0:0.0:0.0	.	127	Q5HYL7-4	.	Q	127;127;59;59;59	.	ENSP00000384234:R127Q	R	-	2	0	TMEM196	19731741	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.678000	0.91216	0.655000	0.94253	CGA		0.498	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		134	203	0	0	0	1	0	134	203				
ZNF467	168544	broad.mit.edu	37	7	149473515	149473515	+	5'Flank	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149473515G>T	ENST00000302017.3	-	0	0				SSPO_ENST00000378016.2_RNA	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTGCCAGCCTCGACCAT	0.667																																						ENST00000378016.2																			0													SCO-spondin							19.0	25.0	23.0					7																	149473515		2038	4168	6206	SO:0001631	upstream_gene_variant	23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149473515G>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883		7.37:g.149473515G>T	Exception_encountered									A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	131	+	Melanoma(164;0.165)|Ovarian(565;0.177)								RNA	SNP	ENST00000302017.3	37		CCDS5899.1																																																																																				0.667	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		11	46	1	0	5.16669e-11	1	5.49905e-11	11	46				
TNKS2	80351	broad.mit.edu	37	10	93608274	93608274	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608274C>A	ENST00000371627.4	+	19	2872	c.2493C>A	c.(2491-2493)agC>agA	p.S831R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	831					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GTCCATCTAGCCCATCAAGCC	0.507																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(2491-2493)agC>agA		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							116.0	107.0	110.0					10																	93608274		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93608274C>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2493C>A	10.37:g.93608274C>A	ENSP00000360689:p.Ser831Arg						p.S831R	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			19	2872	+		Colorectal(252;0.162)	831					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.2493C>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479147	0.44044	.	.	ENSG00000107854	ENST00000371627	T	0.65549	-0.16	5.79	2.56	0.30785	.	0.000000	0.64402	D	0.000001	T	0.50240	0.1604	L	0.44542	1.39	0.44677	D	0.997668	B	0.33413	0.411	B	0.32465	0.146	T	0.50030	-0.8875	10	0.72032	D	0.01	.	8.1326	0.31035	0.0:0.5625:0.0:0.4375	.	831	Q9H2K2	TNKS2_HUMAN	R	831	ENSP00000360689:S831R	ENSP00000360689:S831R	S	+	3	2	TNKS2	93598254	0.937000	0.31787	1.000000	0.80357	0.986000	0.74619	0.049000	0.14099	0.586000	0.29626	0.591000	0.81541	AGC		0.507	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		9	474	1	0	3.09899e-07	1	3.21319e-07	9	474				
CEP95	90799	broad.mit.edu	37	17	62530763	62530763	+	Nonsense_Mutation	SNP	C	C	T	rs201158989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62530763C>T	ENST00000556440.2	+	17	2488	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	660						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAAGAAAATCGACAGCAAAT	0.413																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(1978-1980)Cga>Tga		centrosomal protein 95kDa							105.0	100.0	102.0					17																	62530763		1873	4102	5975	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62530763C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1978C>T	17.37:g.62530763C>T	ENSP00000450461:p.Arg660*					CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	p.R660*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			17	2488	+			660					B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.1978C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	37	6.434597	0.97564	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.75	3.7	0.42460	.	0.118551	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1007	14.6377	0.68702	0.3794:0.6206:0.0:0.0	.	.	.	.	X	595;660;496	.	ENSP00000438458:R595X	R	+	1	2	CEP95	59961225	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	1.149000	0.31626	0.821000	0.34540	0.650000	0.86243	CGA		0.413	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		29	153	0	0	0	1	0	29	153				
RBL2	5934	broad.mit.edu	37	16	53514557	53514557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53514557C>A	ENST00000262133.6	+	20	3097	c.2960C>A	c.(2959-2961)cCt>cAt	p.P987H	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	987	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTCCCACACCTACTCGCCTC	0.512																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2959-2961)cCt>cAt		retinoblastoma-like 2 (p130)							132.0	115.0	120.0					16																	53514557		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53514557C>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2960C>A	16.37:g.53514557C>A	ENSP00000262133:p.Pro987His					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.P987H	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			20	3097	+			987			Domain B.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2960C>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871245	0.91587	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91011	-2.77	5.67	5.67	0.87782	Retinoblastoma-associated protein, B-box (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.93;1.0	D	0.95414	0.8501	10	0.87932	D	0	-18.8095	19.7806	0.96414	0.0:1.0:0.0:0.0	.	697;987	E9PG04;Q08999	.;RBL2_HUMAN	H	987;697	ENSP00000262133:P987H	ENSP00000262133:P987H	P	+	2	0	RBL2	52072058	1.000000	0.71417	0.965000	0.40720	0.865000	0.49528	7.502000	0.81614	2.669000	0.90835	0.650000	0.86243	CCT		0.512	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		72	381	1	0	6.06247e-24	1	6.9123e-24	72	381				
NUP93	9688	broad.mit.edu	37	16	56867301	56867301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56867301G>A	ENST00000308159.5	+	13	1641	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	NUP93_ENST00000564887.1_Missense_Mutation_p.G384E|NUP93_ENST00000542526.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	507					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAGTCCTCTGGACAGAGTGCT	0.537																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1150-1152)gGa>gAa		nucleoporin 93kDa							68.0	60.0	63.0					16																	56867301		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56867301G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1520G>A	16.37:g.56867301G>A	ENSP00000310668:p.Gly507Glu					NUP93_ENST00000542526.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E|NUP93_ENST00000308159.5_Missense_Mutation_p.G507E	p.G384E	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			11	1780	+			507					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.1151G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216492	0.58452	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.42131	0.98;0.98	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.36672	1.1	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.09228	-1.0684	10	0.27785	T	0.31	-12.0839	19.7096	0.96089	0.0:0.0:1.0:0.0	.	507	Q8N1F7	NUP93_HUMAN	E	507;384	ENSP00000310668:G507E;ENSP00000440235:G384E	ENSP00000310668:G507E	G	+	2	0	NUP93	55424802	1.000000	0.71417	0.982000	0.44146	0.655000	0.38815	7.863000	0.87023	2.652000	0.90054	0.655000	0.94253	GGA		0.537	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		52	199	0	0	0	1	0	52	199				
NFIB	4781	broad.mit.edu	37	9	14088266	14088266	+	3'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14088266G>A	ENST00000380959.3	-	0	1778				NFIB_ENST00000543693.1_Missense_Mutation_p.P287L|NFIB_ENST00000397581.2_Missense_Mutation_p.P548L|NFIB_ENST00000397575.3_Missense_Mutation_p.P539L|NFIB_ENST00000380953.1_3'UTR|NFIB_ENST00000397579.2_Missense_Mutation_p.P465L|NFIB_ENST00000380934.4_3'UTR	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GACATTGGCCGGTAAGATGGG	0.438			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000397581.2				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(1642-1644)cCg>cTg		nuclear factor I/B							48.0	42.0	44.0					9																	14088266		2203	4299	6502	SO:0001624	3_prime_UTR_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14088266G>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.*42C>T	9.37:g.14088266G>A						NFIB_ENST00000397575.3_Missense_Mutation_p.P539L|NFIB_ENST00000380959.3_3'UTR|NFIB_ENST00000380934.4_3'UTR|NFIB_ENST00000543693.1_Missense_Mutation_p.P287L|NFIB_ENST00000380953.1_3'UTR|NFIB_ENST00000397579.2_Missense_Mutation_p.P465L	p.P548L			O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	12	2650	-			0					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.1643C>T	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332336	0.95733	.	.	ENSG00000147862	ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693	T;T;T;T	0.58940	0.78;0.78;0.3;0.62	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79227	0.4410	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.80395	-0.1400	9	0.87932	D	0	-3.5409	20.3465	0.98790	0.0:0.0:1.0:0.0	.	287	G3V1P1	.	L	539;548;465;287	ENSP00000380705:P539L;ENSP00000380711:P548L;ENSP00000380709:P465L;ENSP00000442888:P287L	ENSP00000380705:P539L	P	-	2	0	NFIB	14078266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.968000	0.93407	2.798000	0.96311	0.655000	0.94253	CCG		0.438	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		11	47	0	0	0	1	0	11	47				
BRD3	8019	broad.mit.edu	37	9	136907020	136907020	+	Silent	SNP	C	C	T	rs141189239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136907020C>T	ENST00000303407.7	-	8	1454	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	BRD3_ENST00000371834.2_Silent_p.P423P|BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000357885.2_Silent_p.P423P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	423					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CAGGCAGCGCCGGTGCCTCCA	0.657			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1267-1269)ccG>ccA		bromodomain containing 3		C		0,4406		0,0,2203	25.0	28.0	27.0		1269	-3.8	0.0	9	dbSNP_134	27	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		423/727	136907020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136907020C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1269G>A	9.37:g.136907020C>T						BRD3_ENST00000371834.2_Silent_p.P423P|BRD3_ENST00000357885.2_Silent_p.P423P	p.P423P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	8	1454	-			423					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.1269G>A	CCDS6980.1																																																																																				0.657	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		25	109	0	0	0	1	0	25	109				
LATS2	26524	broad.mit.edu	37	13	21562824	21562824	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21562824G>T	ENST00000382592.4	-	4	1500	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	LATS2_ENST00000542899.1_Silent_p.T365T|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTGGACGGAGGTGCTGCCCA	0.726																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1093-1095)acC>acA		large tumor suppressor kinase 2							23.0	25.0	24.0					13																	21562824		2164	4169	6333	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562824G>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1095C>A	13.37:g.21562824G>T						LATS2_ENST00000542899.1_Silent_p.T365T	p.T365T	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1500	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	365						Silent	SNP	ENST00000382592.4	37	c.1095C>A	CCDS9294.1																																																																																				0.726	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			25	212	1	0	9.39395e-14	1	1.01619e-13	25	212				
PAPPA	5069	broad.mit.edu	37	9	118950319	118950319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118950319C>T	ENST00000328252.3	+	2	1671	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	434	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGCTGACGGGCCACGACGGCG	0.607																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1300-1302)ggC>ggT		pregnancy-associated plasma protein A, pappalysin 1							65.0	52.0	56.0					9																	118950319		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950319C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1302C>T	9.37:g.118950319C>T							p.G434G	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1671	+			434			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1302C>T	CCDS6813.1																																																																																				0.607	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		36	226	0	0	0	1	0	36	226				
VPS13C	54832	broad.mit.edu	37	15	62165457	62165457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62165457C>A	ENST00000261517.5	-	78	10639	c.10566G>T	c.(10564-10566)aaG>aaT	p.K3522N	VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000558919.1_5'Flank	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGAAAGCCCTTTCCTCCTC	0.408																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(10564-10566)aaG>aaT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							181.0	178.0	179.0					15																	62165457		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62165457C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10566G>T	15.37:g.62165457C>A	ENSP00000261517:p.Lys3522Asn					VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N	p.K3522N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			78	10639	-			3522						Missense_Mutation	SNP	ENST00000261517.5	37	c.10566G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544169	0.65198	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.53857	0.6;0.6;0.78	6.02	2.0	0.26442	Autophagy-related, C-terminal (1);	0.050323	0.85682	D	0.000000	T	0.66356	0.2781	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.998	D;D;D;D	0.76575	0.972;0.972;0.988;0.984	T	0.63301	-0.6668	10	0.39692	T	0.17	.	10.0938	0.42462	0.0:0.5936:0.0:0.4064	.	3479;3522;3479;3522	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	3479;3522;3522;3522	ENSP00000249837:K3479N;ENSP00000261517:K3522N;ENSP00000379233:K3522N	ENSP00000249837:K3479N	K	-	3	2	VPS13C	59952749	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.282000	0.33226	0.423000	0.26033	0.655000	0.94253	AAG		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		211	877	1	0	9.03655e-77	1	1.15342e-76	211	877				
ZC3H12B	340554	broad.mit.edu	37	X	64722815	64722815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722815C>T	ENST00000338957.4	+	5	2304	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	746							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTCCTATCCCTTGAGTAAC	0.557																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2236-2238)cCc>cTc		zinc finger CCCH-type containing 12B							68.0	67.0	67.0					X																	64722815		2184	4293	6477	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722815C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2237C>T	X.37:g.64722815C>T	ENSP00000340839:p.Pro746Leu					ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	p.P746L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	2304	+			735					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.2237C>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344645	0.61073	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.26660	1.72;1.72	5.94	5.06	0.68205	.	0.050747	0.85682	D	0.000000	T	0.37019	0.0988	L	0.54323	1.7	0.53688	D	0.999971	D	0.63880	0.993	P	0.52109	0.69	T	0.18304	-1.0341	10	0.87932	D	0	-22.6475	13.9642	0.64199	0.1526:0.8474:0.0:0.0	.	735	Q5HYM0	ZC12B_HUMAN	L	746;735;682	ENSP00000340839:P746L;ENSP00000408077:P735L	ENSP00000218172:P682L	P	+	2	0	ZC3H12B	64639540	0.943000	0.32029	1.000000	0.80357	0.996000	0.88848	3.482000	0.53186	1.200000	0.43188	0.506000	0.49869	CCC		0.557	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		45	148	0	0	0	1	0	45	148				
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020833	33020833	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:33020833G>A	ENST00000565407.2	+	0	241				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		AAACTACGCAGACTCTGTGAA	0.512																																						ENST00000565407.2																			0																				230.0	189.0	203.0					16																	33020833		1973	4151	6124			0							g.chr16:33020833G>A	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020833G>A						RP11-19N8.2_ENST00000567619.1_RNA								0	241	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.512	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			270	1253	0	0	0	1	0	270	1253				
RIPK4	54101	broad.mit.edu	37	21	43161895	43161895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161895G>A	ENST00000352483.2	-	9	1666	c.1602C>T	c.(1600-1602)gtC>gtT	p.V534V	RIPK4_ENST00000332512.3_Silent_p.V486V|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.V423V|RIPK4_ENST00000542057.1_Silent_p.V423V			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	534					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAGCTCCACGACACCCCGCA	0.632																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1600-1602)gtC>gtT		receptor-interacting serine-threonine kinase 4							102.0	87.0	92.0					21																	43161895		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161895G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1602C>T	21.37:g.43161895G>A						RIPK4_ENST00000332512.3_Silent_p.V486V|RIPK4_ENST00000544709.1_Silent_p.V423V|RIPK4_ENST00000542057.1_Silent_p.V423V	p.V534V			Q96T11	Q96T11_HUMAN			9	1666	-			486					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1602C>T																																																																																					0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		108	398	0	0	0	1	0	108	398				
AMBRA1	55626	broad.mit.edu	37	11	46430125	46430125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46430125G>A	ENST00000458649.2	-	17	3759	c.3341C>T	c.(3340-3342)gCc>gTc	p.A1114V	AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1114					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTGTTTCGGCATTCTGCAG	0.632																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(3340-3342)gCc>gTc		autophagy/beclin-1 regulator 1							71.0	63.0	66.0					11																	46430125		2202	4299	6501	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46430125G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3341C>T	11.37:g.46430125G>A	ENSP00000415327:p.Ala1114Val					AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V	p.A1114V			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	17	3759	-			1114					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3341C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.524635	0.96431	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.80123	-1.31;-1.34;-1.02;-1.13;-1.02;-1.16;-1.13	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.993;0.996;0.996;0.996;0.998;0.996	D;D;D;D;D;D	0.80764	0.978;0.99;0.99;0.99;0.994;0.99	D	0.87026	0.2132	10	0.87932	D	0	.	19.4943	0.95065	0.0:0.0:1.0:0.0	.	1114;1085;1054;995;1117;1024	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	1024;995;1054;1085;1054;1114;72;1085	ENSP00000318313:A1024V;ENSP00000433372:A995V;ENSP00000431926:A1054V;ENSP00000410899:A1085V;ENSP00000298834:A1054V;ENSP00000415327:A1114V;ENSP00000433945:A1085V	ENSP00000298834:A1054V	A	-	2	0	AMBRA1	46386701	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	9.286000	0.95898	2.677000	0.91161	0.491000	0.48974	GCC		0.632	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		34	172	0	0	0	1	0	34	172				
MFN1	55669	broad.mit.edu	37	3	179076722	179076722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076722G>A	ENST00000471841.1	+	4	469	c.343G>A	c.(343-345)Gtt>Att	p.V115I	MFN1_ENST00000263969.5_Missense_Mutation_p.V115I|MFN1_ENST00000280653.7_Missense_Mutation_p.V115I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	115	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTCCTAAGTGTTGAAGGAAC	0.388																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(343-345)Gtt>Att		mitofusin 1							155.0	143.0	147.0					3																	179076722		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076722G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.343G>A	3.37:g.179076722G>A	ENSP00000420617:p.Val115Ile					MFN1_ENST00000263969.5_Missense_Mutation_p.V115I|MFN1_ENST00000280653.7_Missense_Mutation_p.V115I	p.V115I	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	469	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		115					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.343G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518764	0.85495	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.86	5.86	0.93980	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97801	0.9278	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.87578	0.962;0.998	D	0.96458	0.9339	10	0.31617	T	0.26	-21.6062	20.5632	0.99335	0.0:0.0:1.0:0.0	.	143;115	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	I	115	ENSP00000420617:V115I;ENSP00000280653:V115I;ENSP00000419134:V115I;ENSP00000263969:V115I	ENSP00000263969:V115I	V	+	1	0	MFN1	180559416	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GTT		0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		75	323	0	0	0	1	0	75	323				
C2orf16	84226	broad.mit.edu	37	2	27804403	27804403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27804403G>A	ENST00000408964.2	+	1	5015	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1655	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCGCAGTCCCTCA	0.572																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4963-4965)cGc>cAc		chromosome 2 open reading frame 16																																				SO:0001583	missense	84226							g.chr2:27804403G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4964G>A	2.37:g.27804403G>A	ENSP00000386190:p.Arg1655His						p.R1655H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5015	+	Acute lymphoblastic leukemia(172;0.155)		1655			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4964G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823735	0.32237	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.39	-4.4	0.03600	.	.	.	.	.	T	0.05593	0.0147	L	0.56769	1.78	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.41360	-0.9513	9	0.48119	T	0.1	.	1.1788	0.01841	0.3834:0.2679:0.2131:0.1356	.	1655	Q68DN1	CB016_HUMAN	H	1655	ENSP00000386190:R1655H	ENSP00000386190:R1655H	R	+	2	0	C2orf16	27657907	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.704000	0.00822	-1.327000	0.02264	-0.657000	0.03884	CGC		0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		387	1050	0	0	0	1	0	387	1050				
DHX57	90957	broad.mit.edu	37	2	39033740	39033740	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39033740A>G	ENST00000295373.6	-	22	3903	c.3777T>C	c.(3775-3777)gaT>gaC	p.D1259D		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1259							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTACATATCCATCGTTCTTGG	0.423																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3775-3777)gaT>gaC		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							221.0	189.0	200.0					2																	39033740		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39033740A>G	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3777T>C	2.37:g.39033740A>G							p.D1259D	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			22	3903	-		all_hematologic(82;0.248)	1259					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.3777T>C	CCDS1800.1																																																																																				0.423	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		45	477	0	0	0	1	0	45	477				
SNTB1	6641	broad.mit.edu	37	8	121706136	121706136	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121706136C>T	ENST00000395601.3	-	3	998	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	195	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.R195L(1)|p.R195P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTGGCTTCTCGCATGTACTT	0.483																																						ENST00000395601.3																			2	Substitution - Missense(2)	p.R195L(1)|p.R195P(1)	lung(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(583-585)cGa>cAa		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							75.0	79.0	78.0					8																	121706136		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121706136C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.584G>A	8.37:g.121706136C>T	ENSP00000378965:p.Arg195Gln					SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q	p.R195Q	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	998	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		195			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.584G>A	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262029	0.95368	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.58652	0.32;0.32	5.44	5.44	0.79542	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.85130	0.581;0.997	T	0.71230	-0.4654	10	0.49607	T	0.09	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	195;195	Q13884;Q13884-2	SNTB1_HUMAN;.	Q	195	ENSP00000378965:R195Q;ENSP00000431124:R195Q	ENSP00000378965:R195Q	R	-	2	0	SNTB1	121775317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.814000	0.96858	0.655000	0.94253	CGA		0.483	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		71	321	0	0	0	1	0	71	321				
CATSPERD	257062	broad.mit.edu	37	19	5763298	5763298	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5763298G>T	ENST00000381624.3	+	16	1561	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.K158N	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	500					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TGGATATCAAGCCACTGGTAG	0.443																																						ENST00000381624.3																			0											c.(1498-1500)aaG>aaT		catsper channel auxiliary subunit delta							147.0	133.0	137.0					19																	5763298		1958	4151	6109	SO:0001583	missense	257062					integral to membrane		g.chr19:5763298G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1500G>T	19.37:g.5763298G>T	ENSP00000371037:p.Lys500Asn					CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.K158N	p.K500N	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			16	1561	+			500					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1500G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	g	11.91	1.781003	0.31502	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.28255	1.62;1.62	3.32	3.32	0.38043	.	0.216430	0.22934	U	0.053879	T	0.43853	0.1266	L	0.56769	1.78	0.30142	N	0.803866	D;D	0.61697	0.99;0.977	P;P	0.58620	0.842;0.656	T	0.44498	-0.9324	10	0.72032	D	0.01	-25.9749	10.9	0.47045	0.0:0.0:1.0:0.0	.	426;500	B7WNK5;Q86XM0	.;TM146_HUMAN	N	426;500;158;171;169	ENSP00000371037:K500N;ENSP00000371027:K158N	ENSP00000310546:K171N	K	+	3	2	TMEM146	5714298	0.983000	0.35010	0.953000	0.39169	0.065000	0.16274	0.978000	0.29488	1.806000	0.52798	0.282000	0.19409	AAG		0.443	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		53	269	1	0	2.23044e-30	1	2.6157e-30	53	269				
RABGAP1L	9910	broad.mit.edu	37	1	174210743	174210743	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174210743A>G	ENST00000251507.4	+	5	839	c.665A>G	c.(664-666)cAt>cGt	p.H222R	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGAGTTCCCATGGTTCGGAA	0.373																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(664-666)cAt>cGt		RAB GTPase activating protein 1-like							87.0	83.0	85.0					1																	174210743		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174210743A>G	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.665A>G	1.37:g.174210743A>G	ENSP00000251507:p.His222Arg					RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R	p.H222R	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			5	839	+			222			PID.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.665A>G	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456919	0.26161	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.17370	2.28;2.28;2.28	5.41	2.66	0.31614	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.279450	0.35739	N	0.003006	T	0.04452	0.0122	N	0.01482	-0.84	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.0	T	0.29579	-1.0007	10	0.26408	T	0.33	.	1.6768	0.02823	0.4307:0.3079:0.1118:0.1496	.	222;222;185	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	R	185;222;222;222	ENSP00000350027:H185R;ENSP00000251507:H222R;ENSP00000403136:H222R	ENSP00000251507:H222R	H	+	2	0	RABGAP1L	172477366	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.531000	0.53546	0.854000	0.35336	0.460000	0.39030	CAT		0.373	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		79	253	0	0	0	1	0	79	253				
ZNF876P	642280	broad.mit.edu	37	4	248351	248351	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:248351C>T	ENST00000356347.3	+	0	1175					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCACACCTTACTAAACATAAG	0.373																																						ENST00000356347.3																			0																																																			0							g.chr4:248351C>T	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.248351C>T								NR_027481.1						0	1175	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.373	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		27	88	0	0	0	1	0	27	88				
KDSR	2531	broad.mit.edu	37	18	61018225	61018225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61018225C>T	ENST00000406396.3	-	6	896	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	169					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GACACAAACACGATCCTGCCC	0.547																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(505-507)Gtg>Atg		3-ketodihydrosphingosine reductase							114.0	108.0	110.0					18																	61018225		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018225C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.505G>A	18.37:g.61018225C>T	ENSP00000385083:p.Val169Met					KDSR_ENST00000326575.5_Intron	p.V169M	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			6	896	-			169					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.505G>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.489014	0.64074	.	.	ENSG00000119537	ENST00000406396	D	0.92149	-2.98	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.093753	0.64402	D	0.000001	D	0.92825	0.7718	M	0.88842	2.985	0.80722	D	1	P	0.45396	0.857	B	0.34138	0.176	D	0.93825	0.7122	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	169	Q06136	KDSR_HUMAN	M	169	ENSP00000385083:V169M	ENSP00000385083:V169M	V	-	1	0	KDSR	59169205	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	3.970000	0.56824	2.824000	0.97209	0.655000	0.94253	GTG		0.547	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			104	511	0	0	0	1	0	104	511				
RBM15	64783	broad.mit.edu	37	1	110882581	110882581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882581C>T	ENST00000369784.3	+	1	1454	c.554C>T	c.(553-555)gCg>gTg	p.A185V	RBM15_ENST00000487146.2_Missense_Mutation_p.A185V|RBM15_ENST00000602849.1_Missense_Mutation_p.A185V|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	185	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGACGAAGCGGTGGAGGAC	0.597			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(553-555)gCg>gTg		RNA binding motif protein 15							71.0	75.0	73.0					1																	110882581		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882581C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.554C>T	1.37:g.110882581C>T	ENSP00000358799:p.Ala185Val		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_ENST00000602849.1_Missense_Mutation_p.A185V|RBM15_ENST00000487146.2_Missense_Mutation_p.A185V	p.A185V	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1454	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	185			RRM 1.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.554C>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970749	0.34754	.	.	ENSG00000162775	ENST00000369784	T	0.17691	2.26	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.46442	D	0.000284	T	0.04679	0.0127	N	0.12569	0.235	0.53005	D	0.99996	D;D	0.56521	0.976;0.96	B;B	0.40134	0.32;0.238	T	0.40590	-0.9555	10	0.13108	T	0.6	-9.2181	18.5182	0.90942	0.0:1.0:0.0:0.0	.	185;185	Q96T37-3;Q96T37	.;RBM15_HUMAN	V	185	ENSP00000358799:A185V	ENSP00000358799:A185V	A	+	2	0	RBM15	110684104	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.941000	0.49011	2.706000	0.92434	0.655000	0.94253	GCG		0.597	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		51	392	0	0	0	1	0	51	392				
PCDHAC1	56135	broad.mit.edu	37	5	140306644	140306644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140306644G>A	ENST00000253807.2	+	1	167	c.167G>A	c.(166-168)cGc>cAc	p.R56H	PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAACTTTCGCTTCCTTTCC	0.647																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(166-168)cGc>cAc									50.0	57.0	54.0					5																	140306644		2203	4300	6503	SO:0001583	missense	0							g.chr5:140306644G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.167G>A	5.37:g.140306644G>A	ENSP00000253807:p.Arg56His					PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.R56H	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	167	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.167G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688480	0.88639	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.38240	1.15;1.15	5.29	4.36	0.52297	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.55737	0.1939	M	0.77313	2.365	0.29161	N	0.877754	D;D	0.89917	1.0;0.998	D;P	0.67231	0.95;0.807	T	0.51957	-0.8639	9	0.48119	T	0.1	.	8.3053	0.32038	0.078:0.0:0.7657:0.1563	.	56;56	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	56	ENSP00000386356:R56H;ENSP00000253807:R56H	ENSP00000253807:R56H	R	+	2	0	PCDHAC1	140286828	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.682000	0.61671	2.460000	0.83146	0.561000	0.74099	CGC		0.647	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		41	174	0	0	0	1	0	41	174				
TTLL8	164714	broad.mit.edu	37	22	50471771	50471771	+	Silent	SNP	C	C	T	rs184737868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50471771C>T	ENST00000266182.6	-	10	1142	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	TTLL8_ENST00000440475.1_Silent_p.T361T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	397	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGAGCAGCGGCGTCTCGATGT	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		21629	0.002		0.0	False		,,,				2504	0.001					ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(1141-1143)acG>acA		tubulin tyrosine ligase-like family, member 8		C		0,4314		0,0,2157	51.0	59.0	56.0		1173	-4.8	0.6	22		56	1,8525		0,1,4262	no	coding-synonymous	TTLL8	XM_003403494.1		0,1,6419	TT,TC,CC		0.0117,0.0,0.0078		391/841	50471771	1,12839	2157	4263	6420	SO:0001819	synonymous_variant	164714							g.chr22:50471771C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1143G>A	22.37:g.50471771C>T						TTLL8_ENST00000440475.1_Silent_p.T361T	p.T381T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	10	1142	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.1143G>A																																																																																					0.557	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		14	52	0	0	0	1	0	14	52				
EPG5	57724	broad.mit.edu	37	18	43484027	43484027	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43484027G>T	ENST00000282041.5	-	25	4419	c.4385C>A	c.(4384-4386)aCt>aAt	p.T1462N	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1462					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAGACCAACAGTCTCCTGAAA	0.498																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4384-4386)aCt>aAt		ectopic P-granules autophagy protein 5 homolog (C. elegans)							141.0	140.0	141.0					18																	43484027		2006	4177	6183	SO:0001583	missense	57724				autophagy			g.chr18:43484027G>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4385C>A	18.37:g.43484027G>T	ENSP00000282041:p.Thr1462Asn					EPG5_ENST00000585906.1_5'UTR	p.T1462N	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			25	4419	-			1462					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4385C>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371606	0.42003	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.09911	2.93	6.17	5.3	0.74995	.	.	.	.	.	T	0.11067	0.0270	L	0.29908	0.895	0.09310	N	0.999998	B	0.26258	0.145	B	0.23716	0.048	T	0.19484	-1.0304	9	0.62326	D	0.03	-1.2992	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	1462	Q9HCE0	EPG5_HUMAN	N	1462;337	ENSP00000282041:T1462N	ENSP00000282041:T1462N	T	-	2	0	EPG5	41738025	0.924000	0.31332	0.014000	0.15608	0.896000	0.52359	3.313000	0.51935	1.621000	0.50320	0.655000	0.94253	ACT		0.498	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		16	400	1	0	1.52009e-12	1	1.63397e-12	16	400				
STAT6	6778	broad.mit.edu	37	12	57493091	57493091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57493091C>T	ENST00000300134.3	-	16	2202	c.1877G>A	c.(1876-1878)cGg>cAg	p.R626Q	STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	626	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTAGTGGCTCCGGAAAGCCTC	0.587																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1876-1878)cGg>cAg		signal transducer and activator of transcription 6, interleukin-4 induced							92.0	95.0	94.0					12																	57493091		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57493091C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1877G>A	12.37:g.57493091C>T	ENSP00000300134:p.Arg626Gln					STAT6_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q	p.R626Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			16	2202	-			626			SH2.		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1877G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610067	0.46527	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	4.8	4.8	0.61643	SH2 motif (2);	0.203658	0.43416	D	0.000561	D	0.88959	0.6579	N	0.12182	0.205	0.36482	D	0.867902	B;P	0.44946	0.154;0.846	B;B	0.27380	0.01;0.079	D	0.92008	0.5616	10	0.45353	T	0.12	-18.9484	15.7354	0.77839	0.0:1.0:0.0:0.0	.	626;626	A8K4S9;P42226	.;STAT6_HUMAN	Q	626;516;516;626;626;516;626;516;54;626	ENSP00000300134:R626Q;ENSP00000445409:R516Q;ENSP00000438451:R626Q;ENSP00000451742:R626Q;ENSP00000444530:R516Q;ENSP00000401486:R626Q;ENSP00000450428:R54Q	ENSP00000300134:R626Q	R	-	2	0	STAT6	55779358	0.961000	0.32948	1.000000	0.80357	0.991000	0.79684	1.989000	0.40707	2.664000	0.90586	0.561000	0.74099	CGG		0.587	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		115	420	0	0	0	1	0	115	420				
EFTUD1	79631	broad.mit.edu	37	15	82444692	82444692	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82444692T>G	ENST00000268206.7	-	18	2271	c.2103A>C	c.(2101-2103)aaA>aaC	p.K701N	EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	701					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCATGTCAACTTTTGGGGGTT	0.358																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2101-2103)aaA>aaC		elongation factor Tu GTP binding domain containing 1							147.0	147.0	147.0					15																	82444692		1830	4087	5917	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82444692T>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2103A>C	15.37:g.82444692T>G	ENSP00000268206:p.Lys701Asn					EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	p.K701N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			18	2271	-			701					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.2103A>C	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361645	0.61403	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.26957	1.7;1.7	5.73	3.43	0.39272	Ribosomal protein S5 domain 2-type fold (1);	0.157020	0.28766	N	0.014218	T	0.24509	0.0594	N	0.10809	0.05	0.58432	D	0.999998	P;P	0.52692	0.954;0.955	P;P	0.58928	0.848;0.839	T	0.03034	-1.1080	10	0.37606	T	0.19	-7.7117	10.1789	0.42955	0.0:0.135:0.0:0.865	.	650;701	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	N	701;650	ENSP00000268206:K701N;ENSP00000352418:K650N	ENSP00000268206:K701N	K	-	3	2	EFTUD1	80231747	1.000000	0.71417	0.749000	0.31150	0.988000	0.76386	1.473000	0.35387	0.445000	0.26639	-0.400000	0.06385	AAA		0.358	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		126	649	0	0	0	1	0	126	649				
ITGAV	3685	broad.mit.edu	37	2	187455135	187455135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187455135C>A	ENST00000261023.3	+	1	344	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	24					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CTCGGGACTCCTGCTACCTCT	0.672																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(70-72)Ctg>Atg		integrin, alpha V							32.0	36.0	35.0					2																	187455135		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187455135C>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.70C>A	2.37:g.187455135C>A	ENSP00000261023:p.Leu24Met					ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	p.L24M	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	1	344	+			24					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.70C>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515380	0.44763	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	D;D	0.85411	-1.98;-1.98	4.18	3.25	0.37280	.	0.974764	0.08378	N	0.954986	D	0.85204	0.5643	M	0.71036	2.16	0.80722	D	1	D;P	0.54207	0.965;0.94	P;B	0.47981	0.563;0.36	T	0.78478	-0.2188	10	0.36615	T	0.2	.	4.9857	0.14189	0.0:0.5721:0.2921:0.1358	.	24;24	P06756-2;P06756	.;ITAV_HUMAN	M	24	ENSP00000261023:L24M;ENSP00000364042:L24M	ENSP00000261023:L24M	L	+	1	2	ITGAV	187163380	0.050000	0.20438	0.997000	0.53966	0.938000	0.57974	0.460000	0.21924	0.853000	0.35312	0.462000	0.41574	CTG		0.672	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		73	245	1	0	7.62596e-35	1	9.08233e-35	73	245				
SETD2	29072	broad.mit.edu	37	3	47164118	47164118	+	Missense_Mutation	SNP	C	C	T	rs374976472		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164118C>T	ENST00000409792.3	-	3	2050	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	670					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATATTTAATTCTATGGGACAA	0.323			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2008-2010)Gaa>Aaa		SET domain containing 2		C	LYS/GLU	0,4406		0,0,2203	58.0	62.0	60.0		2008	5.4	1.0	3		60	1,8597	1.2+/-3.3	0,1,4298	no	missense	SETD2	NM_014159.6	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	670/2565	47164118	1,13003	2203	4299	6502	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164118C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2008G>A	3.37:g.47164118C>T	ENSP00000386759:p.Glu670Lys						p.E670K	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2050	-		Acute lymphoblastic leukemia(5;0.0169)	670					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2008G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403533	0.62288	0.0	1.16E-4	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.29	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000025	T	0.80706	0.4674	N	0.24115	0.695	0.37608	D	0.92084	P;P	0.43750	0.816;0.603	B;B	0.36766	0.232;0.232	D	0.85269	0.1055	10	0.87932	D	0	.	12.7337	0.57212	0.0:0.9255:0.0:0.0744	.	670;670	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	670;670;670;626	ENSP00000386759:E670K;ENSP00000416401:E626K	ENSP00000386759:E670K	E	-	1	0	SETD2	47139122	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	3.635000	0.54309	2.828000	0.97474	0.655000	0.94253	GAA		0.323	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		15	331	0	0	0	1	0	15	331				
CMYA5	202333	broad.mit.edu	37	5	79026860	79026860	+	Missense_Mutation	SNP	A	A	G	rs369615786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026860A>G	ENST00000446378.2	+	2	2303	c.2272A>G	c.(2272-2274)Aca>Gca	p.T758A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	758					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCACCATCCACAACCGAAAA	0.502																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2272-2274)Aca>Gca		cardiomyopathy associated 5							71.0	71.0	71.0					5																	79026860		2021	4195	6216	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026860A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2272A>G	5.37:g.79026860A>G	ENSP00000394770:p.Thr758Ala						p.T758A	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2303	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	758					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2272A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189741	0.38707	.	.	ENSG00000164309	ENST00000446378	T	0.38240	1.15	5.41	-3.34	0.04943	.	0.323199	0.22299	N	0.061897	T	0.26919	0.0659	L	0.58583	1.82	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.17745	-1.0359	10	0.38643	T	0.18	.	7.2841	0.26328	0.2766:0.5002:0.2232:0.0	.	758	Q8N3K9	CMYA5_HUMAN	A	758	ENSP00000394770:T758A	ENSP00000394770:T758A	T	+	1	0	CMYA5	79062616	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-0.654000	0.05354	-0.459000	0.07013	-0.263000	0.10527	ACA		0.502	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		68	311	0	0	0	1	0	68	311				
APOA5	116519	broad.mit.edu	37	11	116662558	116662558	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116662558C>T	ENST00000227665.4	-	1	53	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	APOA5_ENST00000542499.1_Missense_Mutation_p.V7M			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	7					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGGTGAGCACGGCAGCCATG	0.632											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(19-21)Gtg>Atg		apolipoprotein A-V							57.0	49.0	51.0					11																	116662558		2201	4296	6497	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116662558C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.19G>A	11.37:g.116662558C>T	ENSP00000227665:p.Val7Met		OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1475	APOA5_ENST00000227665.4_Missense_Mutation_p.V7M	p.V7M	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	2	91	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	7					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.19G>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611190	0.46631	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.80480	-0.94;-0.94;-1.38	5.41	-1.14	0.09741	.	0.770143	0.11366	N	0.571410	T	0.74207	0.3686	M	0.75264	2.295	0.09310	N	1	B	0.19073	0.033	B	0.11329	0.006	T	0.64145	-0.6476	10	0.62326	D	0.03	-5.4016	2.5289	0.04698	0.2099:0.3124:0.338:0.1397	.	7	Q6Q788	APOA5_HUMAN	M	7	ENSP00000227665:V7M;ENSP00000445002:V7M;ENSP00000399701:V7M	ENSP00000227665:V7M	V	-	1	0	APOA5	116167768	0.000000	0.05858	0.000000	0.03702	0.436000	0.31835	-0.470000	0.06639	-0.355000	0.08199	-0.254000	0.11334	GTG		0.632	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			30	144	0	0	0	1	0	30	144				
SLC12A4	6560	broad.mit.edu	37	16	67984390	67984390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67984390G>A	ENST00000316341.3	-	12	1601	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	SLC12A4_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000422611.2_Silent_p.G489G|SLC12A4_ENST00000572037.1_Silent_p.G439G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	487					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGACACCATCGCCATACCTGC	0.627																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1465-1467)ggC>ggT		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						63.0	60.0	61.0					16																	67984390		2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67984390G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1461C>T	16.37:g.67984390G>A						SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000572037.1_Silent_p.G439G|SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000316341.3_Silent_p.G487G	p.G489G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	11	1506	-		Ovarian(137;0.192)	487					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.1467C>T	CCDS10855.1																																																																																				0.627	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		41	184	0	0	0	1	0	41	184				
C10orf71	118461	broad.mit.edu	37	10	50531186	50531186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50531186C>T	ENST00000374144.3	+	3	884	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	199										endometrium(1)	1						AGGAGGGTGCCCGCTGAAGTT	0.532																																						ENST00000374144.3																			0				endometrium(1)	1						c.(595-597)cCc>cTc		chromosome 10 open reading frame 71							37.0	38.0	38.0					10																	50531186		1985	4156	6141	SO:0001583	missense	118461							g.chr10:50531186C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.596C>T	10.37:g.50531186C>T	ENSP00000363259:p.Pro199Leu					C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L	p.P199L			Q711Q0	CJ071_HUMAN			3	884	+			199					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.596C>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953322	0.18431	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.12672	2.66;3.8	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000139	T	0.09423	0.0232	L	0.46157	1.445	0.47547	D	0.999457	P	0.40970	0.734	B	0.38500	0.275	T	0.14587	-1.0467	10	0.02654	T	1	.	5.5496	0.17083	0.1932:0.6873:0.0:0.1195	.	199	Q711Q0-3	.	L	199	ENSP00000318713:P199L;ENSP00000363259:P199L	ENSP00000318713:P199L	P	+	2	0	C10orf71	50201192	0.998000	0.40836	0.989000	0.46669	0.997000	0.91878	3.477000	0.53151	2.530000	0.85305	0.561000	0.74099	CCC		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		39	187	0	0	0	1	0	39	187				
KRT3	3850	broad.mit.edu	37	12	53189544	53189544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53189544C>A	ENST00000417996.2	-	1	357	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	95	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccaaagccacctccatagcca	0.642																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(283-285)Ggt>Tgt		keratin 3							120.0	160.0	146.0					12																	53189544		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189544C>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.283G>T	12.37:g.53189544C>A	ENSP00000413479:p.Gly95Cys					KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	p.G95C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	357	-			95			Gly-rich.|Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.283G>T	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	9.383	1.073530	0.20147	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90732	-2.72;-2.72	4.95	0.391	0.16282	.	.	.	.	.	D	0.93664	0.7976	M	0.90483	3.12	0.32257	N	0.570634	D	0.71674	0.998	P	0.54372	0.75	D	0.92072	0.5665	9	0.48119	T	0.1	.	10.6718	0.45762	0.0:0.8556:0.0:0.1444	.	95	P12035	K2C3_HUMAN	C	95	ENSP00000413479:G95C;ENSP00000312206:G95C	ENSP00000312206:G95C	G	-	1	0	KRT3	51475811	0.001000	0.12720	0.900000	0.35374	0.473000	0.32948	0.351000	0.20096	-0.149000	0.11215	-0.438000	0.05819	GGT		0.642	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		71	635	1	0	1.52808e-22	1	1.72976e-22	71	635				
PHRF1	57661	broad.mit.edu	37	11	587346	587346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:587346C>A	ENST00000264555.5	+	4	430	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(301-303)tCt>tAt		PHD and ring finger domains 1							75.0	81.0	80.0					11																	587346		2003	4173	6176	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587346C>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.302C>A	11.37:g.587346C>A	ENSP00000264555:p.Ser101Tyr					PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y	p.S101Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			4	430	+			101					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.302C>A		.	.	.	.	.	.	.	.	.	.	C	17.15	3.316680	0.60524	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.82711	-1.63;-1.62;-1.64;-1.62	4.81	4.81	0.61882	.	0.000000	0.36482	N	0.002568	D	0.90981	0.7164	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.92354	0.5892	10	0.87932	D	0	-17.4689	16.643	0.85134	0.0:1.0:0.0:0.0	.	97;100;101;101	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	101;100;101;97	ENSP00000264555:S101Y;ENSP00000388589:S100Y;ENSP00000410626:S101Y;ENSP00000431870:S97Y	ENSP00000264555:S101Y	S	+	2	0	PHRF1	577346	1.000000	0.71417	0.632000	0.29296	0.037000	0.13140	7.448000	0.80631	2.208000	0.71279	0.561000	0.74099	TCT		0.562	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		87	253	1	0	6.85908e-49	1	8.47524e-49	87	253				
FANCA	2175	broad.mit.edu	37	16	89807275	89807275	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89807275C>T	ENST00000389301.3	-	38	3796		c.e38-1		ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Splice_Site	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAACCAATAGCTGTAAATAAA	0.378			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.e38-1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							77.0	72.0	74.0					16																	89807275		2198	4300	6498	SO:0001630	splice_region_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89807275C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3766-1G>A	16.37:g.89807275C>T						FANCA_ENST00000568369.1_Splice_Site|ZNF276_ENST00000289816.5_3'UTR		NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	38	3796	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)						A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	37		CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489304	0.44249	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCA	88334776	1.000000	0.71417	0.726000	0.30738	0.508000	0.34012	4.115000	0.57865	2.586000	0.87340	0.561000	0.74099	.		0.378	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		Intron	14	119	0	0	0	1	0	14	119				
TRPC7	57113	broad.mit.edu	37	5	135583384	135583384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135583384G>A	ENST00000513104.1	-	7	1901	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L|TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	540					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCCCTTCCGATATGATCTG	0.522																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1618-1620)tCg>tTg		transient receptor potential cation channel, subfamily C, member 7							79.0	80.0	80.0					5																	135583384		1947	4145	6092	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583384G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1619C>T	5.37:g.135583384G>A	ENSP00000426070:p.Ser540Leu					TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L|TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L	p.S540L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	1901	-			540					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1619C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	34	5.299253	0.95574	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80994	-1.26;-1.44;-1.3	5.65	5.65	0.86999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92331	0.7567	M	0.91717	3.235	0.58432	D	0.999997	D;P;D;D	0.89917	1.0;0.752;1.0;1.0	D;B;D;D	0.85130	0.992;0.423;0.997;0.995	D	0.93047	0.6462	10	0.87932	D	0	-8.1392	19.9142	0.97043	0.0:0.0:1.0:0.0	.	424;479;485;540	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	479;424;540;540	ENSP00000347312:S479L;ENSP00000441628:S424L;ENSP00000426070:S540L	ENSP00000265193:S540L	S	-	2	0	TRPC7	135611283	1.000000	0.71417	0.927000	0.36925	0.891000	0.51852	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	TCG		0.522	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		77	310	0	0	0	1	0	77	310				
C2CD2	25966	broad.mit.edu	37	21	43329596	43329596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43329596C>T	ENST00000380486.3	-	8	1231	c.990G>A	c.(988-990)caG>caA	p.Q330Q	C2CD2_ENST00000329623.7_Silent_p.Q175Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	330	C2.					cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCTCTGAAATCTGCAGGTGTA	0.493																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(988-990)caG>caA		C2 calcium-dependent domain containing 2							93.0	78.0	83.0					21																	43329596		2203	4300	6503	SO:0001819	synonymous_variant	25966					cytosol|extracellular region|nucleus		g.chr21:43329596C>T	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.990G>A	21.37:g.43329596C>T						C2CD2_ENST00000329623.7_Silent_p.Q175Q	p.Q330Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			8	1231	-			330			C2.		Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	c.990G>A	CCDS42933.1																																																																																				0.493	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		28	290	0	0	0	1	0	28	290				
ALPK1	80216	broad.mit.edu	37	4	113352444	113352444	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352444A>C	ENST00000458497.1	+	11	2020	c.1741A>C	c.(1741-1743)Agt>Cgt	p.S581R	ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R|ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	581							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCAGACTTCCAGTGCTTGGAG	0.502																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(1741-1743)Agt>Cgt		alpha-kinase 1							87.0	89.0	88.0					4																	113352444		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352444A>C	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1741A>C	4.37:g.113352444A>C	ENSP00000398048:p.Ser581Arg					ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R|ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R	p.S581R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2020	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	581					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.1741A>C	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548533	0.65311	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02916	4.19;4.19;4.11	5.34	-1.57	0.08506	.	0.809781	0.11477	N	0.560132	T	0.07007	0.0178	M	0.71581	2.175	0.09310	N	1	D;D;P	0.57571	0.98;0.966;0.933	P;P;P	0.54312	0.748;0.564;0.564	T	0.16660	-1.0395	10	0.87932	D	0	-1.4499	4.3225	0.11023	0.5207:0.0:0.2595:0.2198	.	503;503;581	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	581;581;503	ENSP00000398048:S581R;ENSP00000177648:S581R;ENSP00000426044:S503R	ENSP00000177648:S581R	S	+	1	0	ALPK1	113571893	0.034000	0.19679	0.002000	0.10522	0.863000	0.49368	0.264000	0.18497	-0.514000	0.06488	0.533000	0.62120	AGT		0.502	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		63	312	0	0	0	1	0	63	312				
JAG2	3714	broad.mit.edu	37	14	105614748	105614748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105614748G>A	ENST00000331782.3	-	16	2452	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	JAG2_ENST00000347004.2_Silent_p.C645C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	683	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGCGGCTGTGGCAGGGATCGG	0.692																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(2047-2049)tgC>tgT		jagged 2							22.0	22.0	22.0					14																	105614748		2186	4289	6475	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105614748G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2049C>T	14.37:g.105614748G>A						JAG2_ENST00000347004.2_Silent_p.C645C	p.C683C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	16	2452	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	683			EGF-like 12; calcium-binding (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.2049C>T	CCDS9998.1																																																																																				0.692	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			26	192	0	0	0	1	0	26	192				
AKAP12	9590	broad.mit.edu	37	6	151672727	151672727	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672727G>A	ENST00000253332.1	+	3	3390	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	AKAP12_ENST00000402676.2_Silent_p.Q1067Q|AKAP12_ENST00000354675.6_Silent_p.Q969Q|AKAP12_ENST00000359755.5_Silent_p.Q962Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1067					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATGTGCTTCAGCCTGTGCAGA	0.552																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3199-3201)caG>caA		A kinase (PRKA) anchor protein 12							48.0	52.0	50.0					6																	151672727		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672727G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3201G>A	6.37:g.151672727G>A						AKAP12_ENST00000253332.1_Silent_p.Q1067Q|AKAP12_ENST00000354675.6_Silent_p.Q969Q|AKAP12_ENST00000359755.5_Silent_p.Q962Q	p.Q1067Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3441	+		Ovarian(120;0.125)	1067					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.3201G>A	CCDS5229.1																																																																																				0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			60	234	0	0	0	1	0	60	234				
TBC1D4	9882	broad.mit.edu	37	13	75876437	75876437	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:75876437G>T	ENST00000377636.3	-	16	3199	c.2853C>A	c.(2851-2853)tcC>tcA	p.S951S	TBC1D4_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.S888S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	951	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTTCCTTATAGGATATGTCAG	0.418																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2851-2853)tcC>tcA		TBC1 domain family, member 4							129.0	120.0	123.0					13																	75876437		1886	4123	6009	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75876437G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2853C>A	13.37:g.75876437G>T						TBC1D4_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.S888S	p.S951S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	16	3199	-		Prostate(6;0.014)|Breast(118;0.0982)	951			Rab-GAP TBC.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.2853C>A	CCDS41901.1																																																																																				0.418	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		55	326	1	0	3.40343e-31	1	4.00304e-31	55	326				
KIFC3	3801	broad.mit.edu	37	16	57789369	57789369	+	IGR	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57789369A>G	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Missense_Mutation_p.D510G	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AAGAACCTGGACACTGTGCGG	0.657																																						ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1528-1530)gAc>gGc		katanin p80 (WD repeat containing) subunit B 1							107.0	96.0	100.0					16																	57789369		2198	4300	6498	SO:0001628	intergenic_variant	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57789369A>G	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57789369A>G							p.D510G	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			16	1921	+		all_neural(199;0.223)	510			Interaction with KATNA1 and NDEL1 (By similarity).		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1529A>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359970	0.82353	.	.	ENSG00000140854	ENST00000379661	T	0.54479	0.57	5.06	5.06	0.68205	.	0.093041	0.64402	D	0.000001	T	0.63165	0.2488	M	0.64997	1.995	0.58432	D	0.999999	P	0.52170	0.951	P	0.54431	0.752	T	0.67341	-0.5695	10	0.66056	D	0.02	-2.0978	13.9947	0.64390	1.0:0.0:0.0:0.0	.	510	Q9BVA0	KTNB1_HUMAN	G	510	ENSP00000368982:D510G	ENSP00000368982:D510G	D	+	2	0	KATNB1	56346870	1.000000	0.71417	0.999000	0.59377	0.711000	0.40976	8.872000	0.92352	1.921000	0.55644	0.459000	0.35465	GAC		0.657	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		96	488	0	0	0	1	0	96	488				
KLHL6	89857	broad.mit.edu	37	3	183210391	183210391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183210391C>A	ENST00000341319.3	-	6	1490	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	485					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AACACTGAGTCTTGTCTGTGG	0.542																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1453-1455)aaG>aaT		kelch-like family member 6							217.0	171.0	187.0					3																	183210391		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183210391C>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1455G>T	3.37:g.183210391C>A	ENSP00000341342:p.Lys485Asn						p.K485N	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		6	1490	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		485					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1455G>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510440	0.44660	.	.	ENSG00000172578	ENST00000341319	T	0.79554	-1.28	4.88	2.02	0.26589	Kelch-type beta propeller (1);	0.248378	0.46145	D	0.000308	T	0.70552	0.3237	L	0.28344	0.845	0.40751	D	0.982917	P	0.40909	0.732	P	0.46585	0.521	T	0.67094	-0.5757	10	0.56958	D	0.05	.	4.2404	0.10645	0.1559:0.5404:0.0:0.3037	.	485	Q8WZ60	KLHL6_HUMAN	N	485	ENSP00000341342:K485N	ENSP00000341342:K485N	K	-	3	2	KLHL6	184693085	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.874000	0.28065	0.560000	0.29169	0.591000	0.81541	AAG		0.542	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		54	289	1	0	2.24059e-37	1	2.69063e-37	54	289				
SCIN	85477	broad.mit.edu	37	7	12691470	12691470	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12691470T>G	ENST00000297029.5	+	15	2065	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000445618.2_Missense_Mutation_p.F408C|SCIN_ENST00000519209.1_Missense_Mutation_p.F408C	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	655	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCAGATATTTATTTGGATT	0.378																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1963-1965)tTt>tGt		scinderin							164.0	152.0	156.0					7																	12691470		1844	4091	5935	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12691470T>G	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1964T>G	7.37:g.12691470T>G	ENSP00000297029:p.Phe655Cys					SCIN_ENST00000519209.1_Missense_Mutation_p.F408C|SCIN_ENST00000445618.2_Missense_Mutation_p.F408C	p.F655C	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	15	2065	+			655			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1964T>G	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345147	0.82022	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.30182	1.54;1.54;1.54	5.74	5.74	0.90152	Gelsolin domain (1);	0.099917	0.64402	D	0.000001	T	0.69940	0.3167	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81364	-0.0966	10	0.87932	D	0	-18.8659	16.0395	0.80654	0.0:0.0:0.0:1.0	.	655	Q9Y6U3	ADSV_HUMAN	C	655;408;408	ENSP00000297029:F655C;ENSP00000430997:F408C;ENSP00000390189:F408C	ENSP00000297029:F655C	F	+	2	0	SCIN	12657995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.188000	0.77739	2.188000	0.69820	0.533000	0.62120	TTT		0.378	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		12	51	0	0	0	1	0	12	51				
TRIM50	135892	broad.mit.edu	37	7	72734178	72734178	+	Missense_Mutation	SNP	C	C	T	rs539646371	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72734178C>T	ENST00000333149.2	-	3	663	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T|TRIM50_ENST00000493498.1_5'Flank	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	155						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						ACCAGTTTGGCGATGAGCTCA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		18194	0.0		0.0	False		,,,				2504	0.002					ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(463-465)Gcc>Acc		tripartite motif containing 50							398.0	335.0	356.0					7																	72734178		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72734178C>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.463G>A	7.37:g.72734178C>T	ENSP00000327994:p.Ala155Thr					TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T	p.A155T	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			3	663	-			155					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.463G>A	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581845	0.46006	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.64260	-0.09;-0.09	4.14	2.14	0.27477	.	0.437004	0.20192	N	0.097285	T	0.36248	0.0960	N	0.14661	0.345	0.20926	N	0.99982	B;B	0.18461	0.028;0.016	B;B	0.10450	0.005;0.002	T	0.05852	-1.0860	10	0.35671	T	0.21	.	2.8872	0.05664	0.0:0.4802:0.2583:0.2615	.	155;155	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	T	155	ENSP00000327994:A155T;ENSP00000413875:A155T	ENSP00000327994:A155T	A	-	1	0	TRIM50	72372114	0.814000	0.29104	0.973000	0.42090	0.966000	0.64601	1.180000	0.32005	2.042000	0.60477	0.485000	0.47835	GCC		0.587	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		152	899	0	0	0	1	0	152	899				
FAM46C	54855	broad.mit.edu	37	1	118166379	118166379	+	Missense_Mutation	SNP	G	G	A	rs149654076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118166379G>A	ENST00000369448.3	+	2	1136	c.889G>A	c.(889-891)Gct>Act	p.A297T		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	297										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AAACCACTTCGCTGAAGAAGA	0.512			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			G|||	2	0.000399361	0.0	0.0	5008	,	,		22136	0.0		0.002	False		,,,				2504	0.0					ENST00000369448.3				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(889-891)Gct>Act		family with sequence similarity 46, member C		G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	115.0	110.0	112.0		889	4.8	0.8	1	dbSNP_134	112	18,8582	14.6+/-50.1	0,18,4282	yes	missense	FAM46C	NM_017709.3	58	0,22,6481	AA,AG,GG		0.2093,0.0908,0.1692	benign	297/392	118166379	22,12984	2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166379G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.889G>A	1.37:g.118166379G>A	ENSP00000358458:p.Ala297Thr	Multiple Myeloma(3;1.13e-06)					p.A297T	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	1136	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	297					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.889G>A	CCDS896.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	6.588	0.476815	0.12521	9.08E-4	0.002093	ENSG00000183508	ENST00000369448	T	0.22336	1.96	5.7	4.78	0.61160	Domain of unknown function DUF1693 (1);	0.501193	0.19639	N	0.109500	T	0.05914	0.0154	L	0.42245	1.32	0.23445	N	0.997669	B	0.23591	0.088	B	0.20577	0.03	T	0.28808	-1.0032	10	0.20519	T	0.43	-12.3519	7.4156	0.27042	0.0774:0.0:0.6044:0.3182	.	297	Q5VWP2	FA46C_HUMAN	T	297	ENSP00000358458:A297T	ENSP00000358458:A297T	A	+	1	0	FAM46C	117967902	0.961000	0.32948	0.800000	0.32199	0.958000	0.62258	2.228000	0.42981	1.381000	0.46364	0.655000	0.94253	GCT		0.512	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		49	197	0	0	0	1	0	49	197				
FRMD3	257019	broad.mit.edu	37	9	85862972	85862972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85862972G>A	ENST00000304195.3	-	14	1861	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	552						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ATCAATACCTGACTCCAAAAG	0.517																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1654-1656)tCa>tTa		FERM domain containing 3							63.0	66.0	65.0					9																	85862972		1931	4139	6070	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85862972G>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1655C>T	9.37:g.85862972G>A	ENSP00000303508:p.Ser552Leu					FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L	p.S552L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1861	-			552					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1655C>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662574	0.88251	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.90563	-2.22;-2.69;-0.25;-2.54	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.991;0.994;0.998	D	0.95210	0.8324	10	0.87932	D	0	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	552;552;209	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	L	552;358;209;552	ENSP00000365621:S552L;ENSP00000365617:S358L;ENSP00000328615:S209L;ENSP00000303508:S552L	ENSP00000303508:S552L	S	-	2	0	FRMD3	85052792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.340000	0.97038	2.699000	0.92147	0.655000	0.94253	TCA		0.517	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		75	329	0	0	0	1	0	75	329				
RAB1B	81876	broad.mit.edu	37	11	66043694	66043694	+	Silent	SNP	C	C	T	rs368830540		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043694C>T	ENST00000311481.6	+	6	738	c.591C>T	c.(589-591)ggC>ggT	p.G197G	RAB1B_ENST00000527397.1_Silent_p.G165G|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	197					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGCCGGCTGGCGGTGGCTGTT	0.632																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(589-591)ggC>ggT		RAB1B, member RAS oncogene family		C		0,4396		0,0,2198	12.0	14.0	14.0		591	-5.9	0.8	11		14	1,8581		0,1,4290	no	coding-synonymous	RAB1B	NM_030981.2		0,1,6488	TT,TC,CC		0.0117,0.0,0.0077		197/202	66043694	1,12977	2198	4291	6489	SO:0001819	synonymous_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66043694C>T	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.591C>T	11.37:g.66043694C>T						RAB1B_ENST00000527397.1_Silent_p.G165G|RP11-867G23.3_ENST00000501708.1_lincRNA	p.G197G	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN			6	738	+			197					A8K7S1	Silent	SNP	ENST00000311481.6	37	c.591C>T	CCDS31613.1																																																																																				0.632	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		17	62	0	0	0	1	0	17	62				
TMEM132B	114795	broad.mit.edu	37	12	126128621	126128621	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128621G>T	ENST00000299308.3	+	6	1430		c.e6-1		TMEM132B_ENST00000535886.1_Splice_Site	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B							integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTTCCCAAAGGTTTCCAACA	0.428																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.e6-1		transmembrane protein 132B							82.0	77.0	78.0					12																	126128621		1941	4150	6091	SO:0001630	splice_region_variant	114795					integral to membrane		g.chr12:126128621G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1423-1G>T	12.37:g.126128621G>T						TMEM132B_ENST00000535886.1_Splice_Site		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1430	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							A2RRG8|Q8NA73|Q96JN9|Q96PY1	Splice_Site	SNP	ENST00000299308.3	37		CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856831	0.32791	.	.	ENSG00000139364	ENST00000299308	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132B	124694574	1.000000	0.71417	0.994000	0.49952	0.026000	0.11368	9.552000	0.98115	2.578000	0.87016	0.655000	0.94253	.		0.428	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	Intron	30	179	1	0	7.38237e-10	1	7.79401e-10	30	179				
ATR	545	broad.mit.edu	37	3	142241618	142241618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142241618C>T	ENST00000350721.4	-	23	4339	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	ATR_ENST00000383101.3_Silent_p.A1342A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1406					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATCAGCATACGCAAGGTAAG	0.363								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4216-4218)gcG>gcA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							130.0	134.0	132.0					3																	142241618		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142241618C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4218G>A	3.37:g.142241618C>T						ATR_ENST00000383101.3_Silent_p.A1342A	p.A1406A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			23	4339	-			1406					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.4218G>A	CCDS3124.1																																																																																				0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		44	479	0	0	0	1	0	44	479				
SEL1L2	80343	broad.mit.edu	37	20	13869125	13869125	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13869125T>C	ENST00000284951.5	-	6	657	c.583A>G	c.(583-585)Atg>Gtg	p.M195V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	195						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCATATTCCATTCCTATTCCA	0.264																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(583-585)Atg>Gtg		sel-1 suppressor of lin-12-like 2 (C. elegans)							53.0	48.0	50.0					20																	13869125		1803	4064	5867	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13869125T>C	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.583A>G	20.37:g.13869125T>C	ENSP00000284951:p.Met195Val					SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V|SEL1L2_ENST00000486903.1_5'UTR	p.M195V			Q5TEA6	SE1L2_HUMAN			6	657	-			195					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.583A>G		.	.	.	.	.	.	.	.	.	.	T	1.073	-0.669328	0.03403	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.41065	1.01;1.01	5.7	3.43	0.39272	Tetratricopeptide-like helical (1);	0.219927	0.41500	N	0.000872	T	0.10981	0.0268	N	0.00793	-1.18	0.31497	N	0.665227	B;B	0.06786	0.001;0.001	B;B	0.08055	0.0;0.003	T	0.30446	-0.9978	10	0.02654	T	1	-8.1736	6.8787	0.24160	0.0:0.1789:0.0:0.8211	.	195;195	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	195	ENSP00000367312:M195V;ENSP00000284951:M195V	ENSP00000284951:M195V	M	-	1	0	SEL1L2	13817125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	0.975000	0.38392	0.528000	0.53228	ATG		0.264	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		13	46	0	0	0	1	0	13	46				
HEATR1	55127	broad.mit.edu	37	1	236748389	236748389	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236748389G>A	ENST00000366582.3	-	17	2291	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	726					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GACTCTTATCGCAAATGGAAA	0.398																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2176-2178)gCg>gTg		HEAT repeat containing 1							105.0	105.0	105.0					1																	236748389		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236748389G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2177C>T	1.37:g.236748389G>A	ENSP00000355541:p.Ala726Val					HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	p.A726V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		17	2291	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	726					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2177C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277165	0.59758	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66815	0.01;-0.23	6.08	6.08	0.98989	Armadillo-type fold (1);	0.102560	0.64402	D	0.000003	T	0.63058	0.2479	M	0.64997	1.995	0.80722	D	1	P	0.37731	0.607	B	0.25614	0.062	T	0.68025	-0.5518	10	0.72032	D	0.01	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	726	Q9H583	HEAT1_HUMAN	V	726	ENSP00000355541:A726V;ENSP00000355540:A726V	ENSP00000355540:A726V	A	-	2	0	HEATR1	234815012	1.000000	0.71417	0.972000	0.41901	0.633000	0.38033	4.452000	0.60054	2.894000	0.99253	0.591000	0.81541	GCG		0.398	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		21	410	0	0	0	1	0	21	410				
PRRT2	112476	broad.mit.edu	37	16	29824802	29824802	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29824802G>T	ENST00000358758.7	+	2	710	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_Missense_Mutation_p.D143Y|AC009133.14_ENST00000569981.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	143	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCCCCAACCAGACCCCCGGCC	0.632																																						ENST00000300797.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(427-429)Gac>Tac		proline-rich transmembrane protein 2							34.0	39.0	37.0					16																	29824802		2197	4300	6497	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29824802G>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.427G>T	16.37:g.29824802G>T	ENSP00000351608:p.Asp143Tyr					AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000358758.7_Missense_Mutation_p.D143Y|PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y	p.D143Y			Q7Z6L0	PRRT2_HUMAN			2	601	+			143			Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.427G>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221955	0.39300	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.72051	-0.62;0.25	3.97	3.97	0.46021	.	0.778179	0.11447	N	0.563121	T	0.72415	0.3457	L	0.27053	0.805	0.34795	D	0.736158	D;D;D	0.76494	0.999;0.992;0.995	P;P;P	0.61003	0.882;0.67;0.823	T	0.76870	-0.2799	10	0.72032	D	0.01	-3.8345	11.7683	0.51943	0.0:0.0:1.0:0.0	.	143;143;143	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Y	143	ENSP00000351608:D143Y;ENSP00000300797:D143Y	ENSP00000300797:D143Y	D	+	1	0	PRRT2	29732303	0.195000	0.23338	0.993000	0.49108	0.575000	0.36095	1.338000	0.33873	2.242000	0.73789	0.563000	0.77884	GAC		0.632	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		76	227	1	0	7.25294e-45	1	8.88171e-45	76	227				
TTLL10	254173	broad.mit.edu	37	1	1115463	1115463	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1115463G>A	ENST00000379290.1	+	6	422	c.249G>A	c.(247-249)cgG>cgA	p.R83R	TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Silent_p.R83R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	83					cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGACTCCGGTGTCAGCCAA	0.701																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(247-249)cgG>cgA		tubulin tyrosine ligase-like family, member 10							25.0	30.0	29.0					1																	1115463		2198	4294	6492	SO:0001819	synonymous_variant	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1115463G>A	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.249G>A	1.37:g.1115463G>A						TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10_ENST00000379289.1_Silent_p.R83R	p.R83R			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	422	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	83					B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	ENST00000379290.1	37	c.249G>A	CCDS44036.1																																																																																				0.701	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		28	78	0	0	0	1	0	28	78				
FOCAD	54914	broad.mit.edu	37	9	20981573	20981573	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20981573C>A	ENST00000380249.1	+	40	4890	c.4526C>A	c.(4525-4527)gCt>gAt	p.A1509D	FOCAD_ENST00000605086.1_Missense_Mutation_p.A945D|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1509D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1509						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGCCCAAGTGCTTTACACGGT	0.498																																						ENST00000380249.1																			0											c.(4525-4527)gCt>gAt		focadhesin							69.0	65.0	67.0					9																	20981573		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20981573C>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4526C>A	9.37:g.20981573C>A	ENSP00000369599:p.Ala1509Asp					FOCAD_ENST00000605086.1_Missense_Mutation_p.A945D|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1509D	p.A1509D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			40	4890	+			1509					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4526C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890857	0.52014	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.25749	1.78;1.78	5.44	4.52	0.55395	.	0.416960	0.26948	N	0.021696	T	0.22244	0.0536	L	0.51422	1.61	0.30640	N	0.756548	P	0.38335	0.627	B	0.37650	0.255	T	0.20907	-1.0261	10	0.62326	D	0.03	-17.3935	6.6019	0.22705	0.0:0.7455:0.0:0.2545	.	1509	Q5VW36	K1797_HUMAN	D	1509	ENSP00000369599:A1509D;ENSP00000344307:A1509D	ENSP00000344307:A1509D	A	+	2	0	KIAA1797	20971573	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.386000	0.52492	2.832000	0.97577	0.655000	0.94253	GCT		0.498	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		55	239	1	0	1.32667e-27	1	1.53764e-27	55	239				
NEMF	9147	broad.mit.edu	37	14	50318311	50318311	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50318311C>A	ENST00000298310.5	-	3	650	c.201G>T	c.(199-201)aaG>aaT	p.K67N	NEMF_ENST00000546046.1_Missense_Mutation_p.K67N|RN7SL3_ENST00000578231.1_RNA|NEMF_ENST00000556672.1_Missense_Mutation_p.K67N|NEMF_ENST00000545773.1_Missense_Mutation_p.K67N			O60524	NEMF_HUMAN	nuclear export mediator factor	67					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GCATCATATTCTTAGGCCACT	0.343																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(199-201)aaG>aaT		nuclear export mediator factor							117.0	114.0	115.0					14																	50318311		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50318311C>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.201G>T	14.37:g.50318311C>A	ENSP00000298310:p.Lys67Asn					NEMF_ENST00000545773.1_Missense_Mutation_p.K67N|NEMF_ENST00000546046.1_Missense_Mutation_p.K67N|NEMF_ENST00000556672.1_Missense_Mutation_p.K67N	p.K67N			O60524	NEMF_HUMAN			3	650	-			67					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.201G>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892214	0.72524	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626;ENST00000556672	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.47	4.54	0.55810	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.86502	2.82	0.80722	D	1	P;D;D;D	0.89917	0.754;1.0;1.0;1.0	P;D;D;D	0.91635	0.623;0.997;0.997;0.999	T	0.64050	-0.6498	10	0.41790	T	0.15	-12.656	10.3203	0.43762	0.0:0.8275:0.0:0.1725	.	67;67;67;67	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	N	67	ENSP00000298310:K67N;ENSP00000438309:K67N;ENSP00000441016:K67N;ENSP00000452540:K67N;ENSP00000451740:K67N;ENSP00000452174:K67N	ENSP00000298310:K67N	K	-	3	2	NEMF	49388061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.565000	0.36386	1.224000	0.43551	0.455000	0.32223	AAG		0.343	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		47	247	1	0	5.22555e-25	1	5.98653e-25	47	247				
CFAP46	54777	broad.mit.edu	37	10	134743011	134743011	+	Silent	SNP	C	C	T	rs371257846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134743011C>T	ENST00000368585.3	-	9	1502	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						taaagagaaacgggcaggtgt	0.498																																						ENST00000368585.3																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(1162-1164)ccG>ccA		tetratricopeptide repeat domain 40							65.0	57.0	60.0					10																	134743011		2202	4300	6502	SO:0001819	synonymous_variant	54777							g.chr10:134743011C>T																												ENST00000368585.3:c.1164G>A	10.37:g.134743011C>T						TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron	p.P388P			Q8IYW2	CJ092_HUMAN			9	1502	-			0						Silent	SNP	ENST00000368585.3	37	c.1164G>A																																																																																					0.498	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			16	124	0	0	0	1	0	16	124				
PTK2	5747	broad.mit.edu	37	8	141856698	141856698	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q|PTK2_ENST00000340930.3_Splice_Site_p.R177Q|PTK2_ENST00000517887.1_Splice_Site_p.R221Q|PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000535192.1_Splice_Site_p.R177Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCATCTTACCGTATTTCTAG	0.323																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.e6+1		protein tyrosine kinase 2							106.0	99.0	102.0					8																	141856698		2203	4300	6503	SO:0001630	splice_region_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141856698C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.530+1G>A	8.37:g.141856698C>T						PTK2_ENST00000535192.1_Splice_Site_p.R177_splice|PTK2_ENST00000519419.1_Splice_Site_p.R221_splice|PTK2_ENST00000521059.1_Splice_Site_p.R177_splice|PTK2_ENST00000395218.2_Splice_Site_p.R177_splice|PTK2_ENST00000517887.1_Splice_Site_p.R221_splice|PTK2_ENST00000340930.3_Splice_Site_p.R177_splice	p.R177_splice	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		6	759	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	177			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Splice_Site	SNP	ENST00000522684.1	37	c.530_splice	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496021	0.96355	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000524357	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.03	5.35	5.35	0.76521	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.82193	2.58	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	0.91635	0.999;0.997;0.999;0.996;0.997;0.998	D	0.86495	0.1800	9	.	.	.	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	177;84;177;199;177;88	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	Q	177;177;221;177;87;177;84;177;221;92	ENSP00000429911:R177Q;ENSP00000438009:R177Q;ENSP00000429082:R221Q;ENSP00000429474:R177Q;ENSP00000378644:R177Q;ENSP00000341189:R177Q;ENSP00000429129:R221Q;ENSP00000429001:R92Q	.	R	-	2	0	PTK2	141925880	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.631000	0.74277	2.504000	0.84457	0.484000	0.47621	CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGA		0.323	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	Missense_Mutation	39	236	0	0	0	1	0	39	236				
TECPR1	25851	broad.mit.edu	37	7	97872882	97872882	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97872882T>C	ENST00000447648.2	-	6	853	c.554A>G	c.(553-555)aAg>aGg	p.K185R	TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R|TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	185					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGCAGCTCCTTGGGGTCATC	0.647																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(553-555)aAg>aGg		tectonin beta-propeller repeat containing 1							46.0	53.0	50.0					7																	97872882		2038	4196	6234	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97872882T>C		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.554A>G	7.37:g.97872882T>C	ENSP00000404923:p.Lys185Arg					TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R|TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R	p.K185R			Q7Z6L1	TCPR1_HUMAN			6	853	-			185					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.554A>G	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979333	0.34942	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.30714	1.52;1.52;1.52	5.27	5.27	0.74061	.	0.526566	0.22848	N	0.054895	T	0.20047	0.0482	N	0.19112	0.55	0.25899	N	0.983377	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.002	T	0.12553	-1.0543	10	0.12430	T	0.62	-23.8156	14.4017	0.67050	0.0:0.0:0.0:1.0	.	106;185	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	R	185;185;106	ENSP00000404923:K185R;ENSP00000369121:K185R;ENSP00000441121:K106R	ENSP00000369121:K185R	K	-	2	0	TECPR1	97710818	0.375000	0.25089	0.980000	0.43619	0.924000	0.55760	1.915000	0.39976	2.001000	0.58596	0.533000	0.62120	AAG		0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		9	230	0	0	0	1	0	9	230				
PDE4DIP	9659	broad.mit.edu	37	1	144930582	144930582	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144930582A>G	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000529945.1_Splice_Site|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGTTTTGTATACCTGGACCCG	0.483			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.e1+1		phosphodiesterase 4D interacting protein							90.0	98.0	95.0					1																	144930582		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930582A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6761T>C	1.37:g.144930582A>G						PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Splice_Site				Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1565	-								A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Splice_Site	SNP	ENST00000369354.3	37		CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.256936	0.59321	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7584	0.62950	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE4DIP	143641939	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	8.265000	0.89869	2.135000	0.66039	0.529000	0.55759	.		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		39	619	0	0	0	1	0	39	619				
TGIF2LX	90316	broad.mit.edu	37	X	89177650	89177650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:89177650C>T	ENST00000561129.2	+	1	696	c.566C>T	c.(565-567)cCg>cTg	p.P189L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAGCCCAGCCGAAGAAAAAG	0.572																																						ENST00000561129.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(565-567)cCg>cTg		TGFB-induced factor homeobox 2-like, X-linked							70.0	75.0	74.0					X																	89177650		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177650C>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.566C>T	X.37:g.89177650C>T	ENSP00000453704:p.Pro189Leu					TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L	p.P189L			Q8IUE1	TF2LX_HUMAN			1	696	+			189					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.566C>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	4.791	0.147126	0.09134	.	.	ENSG00000153779	ENST00000283891	T	0.61392	0.11	2.95	0.0758	0.14400	.	.	.	.	.	T	0.46054	0.1373	M	0.76574	2.34	0.09310	N	1	B	0.33238	0.403	B	0.18871	0.023	T	0.36792	-0.9733	8	.	.	.	-5.0317	2.3044	0.04170	0.244:0.457:0.0:0.2989	.	189	Q8IUE1	TF2LX_HUMAN	L	189	ENSP00000355119:P189L	.	P	+	2	0	TGIF2LX	89064306	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.009000	0.12765	-0.101000	0.12219	0.506000	0.49869	CCG		0.572	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		56	210	0	0	0	1	0	56	210				
SMARCA1	6594	broad.mit.edu	37	X	128582342	128582342	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128582342C>A	ENST00000371122.4	-	24	3238	c.3109G>T	c.(3109-3111)Gaa>Taa	p.E1037*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1037					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCTTCTTTTCTGCTCTCTCT	0.313																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(3109-3111)Gaa>Taa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							145.0	134.0	138.0					X																	128582342		2203	4297	6500	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128582342C>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.3109G>T	X.37:g.128582342C>A	ENSP00000360163:p.Glu1037*					SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*	p.E1037*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			24	3238	-			1037					Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.3109G>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	39	7.403897	0.98262	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-21.9902	19.3889	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1025;1037	.	ENSP00000360162:E1025X	E	-	1	0	SMARCA1	128410023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.177000	0.71961	2.618000	0.88619	0.600000	0.82982	GAA		0.313	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		82	266	1	0	4.03997e-35	1	4.81766e-35	82	266				
ARHGDIA	396	broad.mit.edu	37	17	79827105	79827105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79827105C>T	ENST00000269321.7	-	5	494	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	120					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACTATCTCTCGGTTAACCTG	0.642																																						ENST00000269321.7																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(358-360)cGa>cAa		Rho GDP dissociation inhibitor (GDI) alpha							69.0	67.0	68.0					17																	79827105		2203	4300	6503	SO:0001583	missense	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79827105C>T	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.359G>A	17.37:g.79827105C>T	ENSP00000269321:p.Arg120Gln					ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q	p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	494	-	all_neural(118;0.0878)|Ovarian(332;0.12)		120					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Missense_Mutation	SNP	ENST00000269321.7	37	c.359G>A	CCDS11788.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235195	0.39498	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.45	0.151	0.14888	Immunoglobulin E-set (1);	0.288011	0.33161	N	0.005205	T	0.25938	0.0632	L	0.54323	1.7	0.26686	N	0.971459	B;B;P	0.43938	0.036;0.078;0.822	B;B;B	0.34138	0.064;0.094;0.176	T	0.19224	-1.0312	9	0.59425	D	0.04	-9.8482	8.7674	0.34711	0.0:0.5049:0.0:0.4951	.	120;120;120	A8MXW0;B4DUV9;P52565	.;.;GDIR1_HUMAN	Q	120	.	ENSP00000269321:R120Q	R	-	2	0	ARHGDIA	77420394	0.851000	0.29673	0.081000	0.20488	0.379000	0.30106	1.371000	0.34250	0.159000	0.19401	0.467000	0.42956	CGA		0.642	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		63	256	0	0	0	1	0	63	256				
TRPM5	29850	broad.mit.edu	37	11	2436266	2436266	+	Silent	SNP	C	C	T	rs374016490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2436266C>T	ENST00000155858.6	-	10	1499	c.1491G>A	c.(1489-1491)ccG>ccA	p.P497P	TRPM5_ENST00000452833.1_Silent_p.P499P|TRPM5_ENST00000533060.1_Silent_p.P497P|TRPM5_ENST00000528453.1_Silent_p.P497P	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCTTGGCCGGGCCCTTCT	0.726													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12833	0.0		0.0	False		,,,				2504	0.0				NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1495-1497)ccG>ccA		transient receptor potential cation channel, subfamily M, member 5		C		2,4328		0,2,2163	17.0	22.0	20.0		1491	-7.3	0.0	11		20	0,8520		0,0,4260	no	coding-synonymous	TRPM5	NM_014555.3		0,2,6423	TT,TC,CC		0.0,0.0462,0.0156		497/1166	2436266	2,12848	2165	4260	6425	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2436266C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1491G>A	11.37:g.2436266C>T						TRPM5_ENST00000155858.6_Silent_p.P497P|TRPM5_ENST00000533060.1_Silent_p.P497P|TRPM5_ENST00000528453.1_Silent_p.P497P	p.P499P			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	10	1505	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	497						Silent	SNP	ENST00000155858.6	37	c.1497G>A	CCDS31340.1																																																																																				0.726	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		18	150	0	0	0	1	0	18	150				
NCAPD2	9918	broad.mit.edu	37	12	6626806	6626806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6626806G>T	ENST00000315579.5	+	12	2164	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	455	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGAGACCCAGAAATTACAAG	0.478																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1363-1365)caG>caT		non-SMC condensin I complex, subunit D2							85.0	86.0	86.0					12																	6626806		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6626806G>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1365G>T	12.37:g.6626806G>T	ENSP00000325017:p.Gln455His					NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	p.Q455H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			12	2164	+			455			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1365G>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880287	0.72294	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.08720	3.06;3.06;3.06	5.49	4.6	0.57074	Armadillo-type fold (1);	0.348665	0.33959	N	0.004393	T	0.12433	0.0302	L	0.27053	0.805	0.42037	D	0.991051	D;P;P	0.54397	0.966;0.747;0.943	P;P;P	0.53809	0.735;0.497;0.547	T	0.05954	-1.0854	10	0.45353	T	0.12	-16.3621	14.1457	0.65349	0.0727:0.0:0.9273:0.0	.	410;416;455	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	455;327;410;327	ENSP00000325017:Q455H;ENSP00000371895:Q327H;ENSP00000444417:Q410H	ENSP00000325017:Q455H	Q	+	3	2	NCAPD2	6497067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.299000	0.43611	1.323000	0.45263	0.561000	0.74099	CAG		0.478	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		51	231	1	0	7.77372e-23	1	8.81276e-23	51	231				
CTNND2	1501	broad.mit.edu	37	5	11384844	11384844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384844C>T	ENST00000304623.8	-	7	1299	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CTNND2_ENST00000511377.1_Silent_p.E279E|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	370					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTACTGCTCGGACGCGT	0.672																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1108-1110)gaG>gaA		catenin (cadherin-associated protein), delta 2							54.0	46.0	49.0					5																	11384844		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11384844C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1110G>A	5.37:g.11384844C>T						CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.E279E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Intron	p.E370E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			7	1299	-			370					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1110G>A	CCDS3881.1																																																																																				0.672	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		27	109	0	0	0	1	0	27	109				
MCAT	27349	broad.mit.edu	37	22	43529075	43529075	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43529075G>T	ENST00000290429.6	-	4	1192	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	383					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGAGGGTCCAGGTCCACATGT	0.632																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1147-1149)Ctg>Atg		malonyl CoA:ACP acyltransferase (mitochondrial)							84.0	86.0	85.0					22																	43529075		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529075G>T	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1147C>A	22.37:g.43529075G>T	ENSP00000290429:p.Leu383Met					MCAT_ENST00000327555.5_3'UTR	p.L383M	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1192	-		Ovarian(80;0.0694)	383					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.1147C>A	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514198	0.27123	.	.	ENSG00000100294	ENST00000290429	T	0.47528	0.84	4.28	-3.24	0.05094	.	2.333530	0.02116	N	0.055174	T	0.20820	0.0501	N	0.02011	-0.69	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.21211	-1.0252	10	0.49607	T	0.09	-23.036	4.6378	0.12534	0.0882:0.4118:0.3598:0.1401	.	383	Q8IVS2	FABD_HUMAN	M	383	ENSP00000290429:L383M	ENSP00000290429:L383M	L	-	1	2	MCAT	41859019	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.101000	0.03336	-0.026000	0.13895	0.650000	0.86243	CTG		0.632	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		96	513	1	0	9.24773e-40	1	1.11906e-39	96	513				
STX11	8676	broad.mit.edu	37	6	144508031	144508031	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144508031C>T	ENST00000367568.4	+	2	450	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	89					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCAACTCCATCGCCAAGGCCA	0.677									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(265-267)atC>atT		syntaxin 11							26.0	27.0	26.0					6																	144508031		2203	4299	6502	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508031C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.267C>T	6.37:g.144508031C>T							p.I89I	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	450	+			89					E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.267C>T	CCDS5205.1																																																																																				0.677	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			47	190	0	0	0	1	0	47	190				
LEPREL1	55214	broad.mit.edu	37	3	189702355	189702355	+	Nonsense_Mutation	SNP	G	G	A	rs377600857		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189702355G>A	ENST00000319332.5	-	7	1410	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	405					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATCCTGTCGTCCTCCATAT	0.313																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1213-1215)Cga>Tga		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	151.0	142.0	145.0		670,1213	4.0	1.0	3		145	0,8600		0,0,4300	no	stop-gained,stop-gained	LEPREL1	NM_001134418.1,NM_018192.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	224/528,405/709	189702355	1,13005	2203	4300	6503	SO:0001587	stop_gained	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189702355G>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1213C>T	3.37:g.189702355G>A	ENSP00000316881:p.Arg405*					LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	p.R405*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	7	1410	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		405					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Nonsense_Mutation	SNP	ENST00000319332.5	37	c.1213C>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	40	8.249713	0.98727	2.27E-4	0.0	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.87	4.0	0.46444	.	0.167866	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0519	14.1829	0.65586	0.0:0.0:0.7279:0.272	.	.	.	.	X	405;224	.	.	R	-	1	2	LEPREL1	191185049	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.045000	0.49838	1.477000	0.48234	0.655000	0.94253	CGA		0.313	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		50	238	0	0	0	1	0	50	238				
ADAMTS18	170692	broad.mit.edu	37	16	77389909	77389909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77389909G>A	ENST00000282849.5	-	9	1806	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	463	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCAGTGTGGGAGACATGAT	0.458																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1387-1389)cCc>cTc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							141.0	121.0	128.0					16																	77389909		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77389909G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1388C>T	16.37:g.77389909G>A	ENSP00000282849:p.Pro463Leu						p.P463L	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			9	1806	-			463			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1388C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097467	0.76870	.	.	ENSG00000140873	ENST00000282849	T	0.03441	3.93	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	H	0.96175	3.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.986;0.995	T	0.44190	-0.9344	10	0.87932	D	0	.	18.2505	0.90000	0.0:0.0:1.0:0.0	.	463;463	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	463	ENSP00000282849:P463L	ENSP00000282849:P463L	P	-	2	0	ADAMTS18	75947410	1.000000	0.71417	0.828000	0.32881	0.312000	0.27988	9.601000	0.98297	2.865000	0.98341	0.655000	0.94253	CCC		0.458	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			137	324	0	0	0	1	0	137	324				
OR4A15	81328	broad.mit.edu	37	11	55136198	55136198	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55136198T>C	ENST00000314706.3	+	1	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATTCTTTGTCCCCTGTATC	0.413																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(838-840)gTc>gCc		olfactory receptor, family 4, subfamily A, member 15							254.0	241.0	245.0					11																	55136198		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136198T>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.839T>C	11.37:g.55136198T>C	ENSP00000325065:p.Val280Ala						p.V280A	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	839	+			280					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.839T>C	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	17.68	3.449808	0.63290	.	.	ENSG00000181958	ENST00000314706	T	0.38240	1.15	3.65	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000387	T	0.37237	0.0996	L	0.50333	1.59	0.09310	N	0.999992	P	0.40000	0.698	P	0.47075	0.536	T	0.17258	-1.0375	10	0.56958	D	0.05	.	6.854	0.24030	0.0:0.1169:0.0:0.8831	.	280	Q8NGL6	O4A15_HUMAN	A	280	ENSP00000325065:V280A	ENSP00000325065:V280A	V	+	2	0	OR4A15	54892774	0.000000	0.05858	0.110000	0.21437	0.467000	0.32768	-0.314000	0.08092	0.488000	0.27723	0.403000	0.27427	GTC		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		221	973	0	0	0	1	0	221	973				
GMIP	51291	broad.mit.edu	37	19	19752634	19752634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19752634G>A	ENST00000203556.4	-	4	360	c.223C>T	c.(223-225)Cct>Tct	p.P75S	GMIP_ENST00000587238.1_Missense_Mutation_p.P75S|GMIP_ENST00000445806.2_Missense_Mutation_p.P75S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	75					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGGGGTACAGGACCCTCTGGG	0.592																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(223-225)Cct>Tct		GEM interacting protein							25.0	25.0	25.0					19																	19752634		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19752634G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.223C>T	19.37:g.19752634G>A	ENSP00000203556:p.Pro75Ser					GMIP_ENST00000445806.2_Missense_Mutation_p.P75S|GMIP_ENST00000587238.1_Missense_Mutation_p.P75S	p.P75S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			4	360	-			75					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.223C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	7.783	0.709920	0.15239	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.28666	1.6;1.6	4.54	3.5	0.40072	.	0.178990	0.27181	N	0.020545	T	0.24275	0.0588	L	0.47190	1.495	0.09310	N	1	B;B;B	0.32245	0.022;0.361;0.01	B;B;B	0.30646	0.016;0.118;0.016	T	0.13202	-1.0518	10	0.39692	T	0.17	-9.5134	8.2165	0.31514	0.1084:0.0:0.8916:0.0	.	75;75;75	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	S	75	ENSP00000203556:P75S;ENSP00000397075:P75S	ENSP00000203556:P75S	P	-	1	0	GMIP	19613634	0.265000	0.24102	0.053000	0.19242	0.458000	0.32498	1.855000	0.39378	1.126000	0.42016	0.561000	0.74099	CCT		0.592	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	96	0	0	0	1	0	4	96				
AMHR2	269	broad.mit.edu	37	12	53823757	53823757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823757G>A	ENST00000257863.4	+	9	1363	c.1283G>A	c.(1282-1284)aGg>aAg	p.R428K	AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAGATTTGAGGCCTGGTAAG	0.587																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1282-1284)aGg>aAg		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						82.0	83.0	82.0					12																	53823757		2203	4300	6503	SO:0001583	missense	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823757G>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1283G>A	12.37:g.53823757G>A	ENSP00000257863:p.Arg428Lys					AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K	p.R428K	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			9	1363	+			428			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1283G>A	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224872	0.39300	.	.	ENSG00000135409	ENST00000257863;ENST00000550311	T;T	0.64085	-0.08;-0.08	4.86	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.173220	0.06544	N	0.743676	T	0.49712	0.1573	L	0.31664	0.95	0.39683	D	0.970929	B;B	0.20164	0.034;0.042	B;B	0.26202	0.025;0.067	T	0.47446	-0.9117	10	0.29301	T	0.29	.	4.7159	0.12894	0.1342:0.0:0.6618:0.204	.	428;428	F8W1D2;Q16671	.;AMHR2_HUMAN	K	428	ENSP00000257863:R428K;ENSP00000446661:R428K	ENSP00000257863:R428K	R	+	2	0	AMHR2	52110024	0.038000	0.19896	0.844000	0.33320	0.981000	0.71138	0.976000	0.29462	1.282000	0.44496	0.557000	0.71058	AGG		0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		131	531	0	0	0	1	0	131	531				
PSMA6	5687	broad.mit.edu	37	14	35761742	35761742	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35761742T>C	ENST00000261479.4	+	1	180	c.60T>C	c.(58-60)ggT>ggC	p.G20G	PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000556506.1_Silent_p.G20G|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000553809.1_Silent_p.G20G	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CACCCGAGGGTCGGCTCTACC	0.577																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(58-60)ggT>ggC		proteasome (prosome, macropain) subunit, alpha type, 6							100.0	96.0	97.0					14																	35761742		2203	4300	6503	SO:0001819	synonymous_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35761742T>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.60T>C	14.37:g.35761742T>C						KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000556506.1_Silent_p.G20G|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Silent_p.G20G	p.G20G	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	1	180	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		20					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Silent	SNP	ENST00000261479.4	37	c.60T>C	CCDS9655.1																																																																																				0.577	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			19	482	0	0	0	1	0	19	482				
PTK2	5747	broad.mit.edu	37	8	141774407	141774407	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141774407G>T	ENST00000522684.1	-	15	1407				PTK2_ENST00000395218.2_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000519465.1_Missense_Mutation_p.S15Y|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000520151.1_Missense_Mutation_p.S15Y|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AAAAGAAACAGATATGTTGAA	0.343																																						ENST00000519465.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(43-45)tCt>tAt		protein tyrosine kinase 2							107.0	105.0	106.0					8																	141774407		2203	4300	6503	SO:0001627	intron_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141774407G>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1178-18C>A	8.37:g.141774407G>T						PTK2_ENST00000522684.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000520151.1_Missense_Mutation_p.S15Y|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000538769.1_Intron	p.S15Y			Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		1	215	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	0					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.44C>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808922	0.31961	.	.	ENSG00000169398	ENST00000519465;ENST00000519024	T;T	0.77750	-1.01;-1.12	4.56	-8.04	0.01110	.	.	.	.	.	T	0.67979	0.2951	.	.	.	0.19945	N	0.999944	P	0.48016	0.904	P	0.49597	0.616	T	0.60627	-0.7226	7	.	.	.	.	1.2254	0.01932	0.3362:0.0871:0.2562:0.3206	.	15	E9PEI4	.	Y	15	ENSP00000429170:S15Y;ENSP00000428232:S15Y	.	S	-	2	0	PTK2	141843589	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.293000	0.08320	-2.018000	0.00943	-2.614000	0.00158	TCT		0.343	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		15	255	1	0	1.49906e-05	1	1.53515e-05	15	255				
AKT3	10000	broad.mit.edu	37	1	244006483	244006483	+	De_novo_Start_InFrame	SNP	C	C	A	rs369553671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244006483C>A	ENST00000366539.1	-	0	190				AKT3_ENST00000366540.1_De_novo_Start_InFrame|AKT3_ENST00000336199.5_De_novo_Start_InFrame|AKT3_ENST00000263826.5_De_novo_Start_InFrame			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3						mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GATGACTCCCCTCTGAGCCCC	0.478																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26								v-akt murine thymoma viral oncogene homolog 3							131.0	124.0	127.0					1																	244006483		2203	4300	6503			10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:244006483C>A	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994		1.37:g.244006483C>A						AKT3_ENST00000366540.1_De_novo_Start_InFrame|AKT3_ENST00000263826.5_De_novo_Start_InFrame|AKT3_ENST00000336199.5_De_novo_Start_InFrame				Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		0	190	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)						Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Translation_Start_Site	SNP	ENST00000366539.1	37		CCDS31077.1																																																																																				0.478	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		61	407	1	0	2.3441e-25	1	2.68925e-25	61	407				
KCNJ14	3770	broad.mit.edu	37	19	48965137	48965137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965137C>T	ENST00000391884.1	+	1	632	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNJ14_ENST00000342291.2_Silent_p.F52F			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	52					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GCGGTCGCTTCGTCAAGAAAG	0.706																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(154-156)ttC>ttT		potassium inwardly-rectifying channel, subfamily J, member 14							33.0	24.0	27.0					19																	48965137		2201	4298	6499	SO:0001819	synonymous_variant	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965137C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.156C>T	19.37:g.48965137C>T						KCNJ14_ENST00000342291.2_Silent_p.F52F	p.F52F			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	632	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	52						Silent	SNP	ENST00000391884.1	37	c.156C>T	CCDS12721.1																																																																																				0.706	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		16	63	0	0	0	1	0	16	63				
PCDHGA2	56113	broad.mit.edu	37	5	140720594	140720594	+	Missense_Mutation	SNP	G	G	A	rs374361232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720594G>A	ENST00000394576.2	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	686					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACCCAACGATTCGGACCT	0.682																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2056-2058)Gat>Aat				G	,ASN/ASP,ASN/ASP	1,4405		0,1,2202	106.0	112.0	110.0		,2056,2056	3.2	0.0	5		110	0,8596		0,0,4298	no	intron,missense,missense	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,23,23	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,,	,686/933,686/824	140720594	1,13001	2203	4298	6501	SO:0001583	missense	0							g.chr5:140720594G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2056G>A	5.37:g.140720594G>A	ENSP00000378077:p.Asp686Asn					PCDHGA1_ENST00000517417.1_Intron	p.D686N	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2056	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2056G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.710	1.156808	0.21454	2.27E-4	0.0	ENSG00000081853	ENST00000394576	T	0.48201	0.82	5.05	3.24	0.37175	.	0.543864	0.14979	U	0.287378	T	0.32496	0.0831	L	0.39326	1.205	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.15484	0.013;0.004	T	0.20773	-1.0265	10	0.30078	T	0.28	.	2.4419	0.04497	0.1658:0.1505:0.5281:0.1556	.	686;686	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	686	ENSP00000378077:D686N	ENSP00000378077:D686N	D	+	1	0	PCDHGA2	140700778	0.006000	0.16342	0.000000	0.03702	0.006000	0.05464	1.852000	0.39348	0.641000	0.30601	-0.515000	0.04445	GAT		0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		194	868	0	0	0	1	0	194	868				
ZNF808	388558	broad.mit.edu	37	19	53057635	53057635	+	Missense_Mutation	SNP	G	G	A	rs573679515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53057635G>A	ENST00000359798.4	+	5	1646	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATGAGTGTCGCAAGACCTTC	0.433																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1465-1467)cGc>cAc		zinc finger protein 808							84.0	89.0	87.0					19																	53057635		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057635G>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1466G>A	19.37:g.53057635G>A	ENSP00000352846:p.Arg489His						p.R489H	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1646	+			489					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1466G>A	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	6.792	0.515038	0.12944	.	.	ENSG00000198482	ENST00000359798	T	0.14893	2.47	1.5	0.355	0.16069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	9	0.72032	D	0.01	.	6.9106	0.24333	0.1648:0.0:0.8352:0.0	.	489	Q8N4W9	ZN808_HUMAN	H	489	ENSP00000352846:R489H	ENSP00000352846:R489H	R	+	2	0	ZNF808	57749447	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.455000	0.06762	-0.020000	0.14032	-1.098000	0.02139	CGC		0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		42	538	0	0	0	1	0	42	538				
ADH6	130	broad.mit.edu	37	4	100128629	100128629	+	Missense_Mutation	SNP	C	C	T	rs367908790		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100128629C>T	ENST00000237653.7	-	7	1322	c.938G>A	c.(937-939)cGt>cAt	p.R313H	ADH6_ENST00000504257.1_5'Flank|ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.R313H|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.R104H	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	313					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CTTCAAAGAACGTCCTGAGAA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		17316	0.0		0.001	False		,,,				2504	0.0					ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(937-939)cGt>cAt		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	135.0	131.0	133.0		938,938	3.0	0.4	4		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADH6	NM_000672.3,NM_001102470.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	313/369,313/376	100128629	1,13005	2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100128629C>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.938G>A	4.37:g.100128629C>T	ENSP00000237653:p.Arg313His					ADH6_ENST00000407820.2_Missense_Mutation_p.R104H|ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.R313H	p.R313H	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	7	1031	-			313					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.938G>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945042	0.53079	0.0	1.16E-4	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.8	2.95	0.34219	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.132384	0.48286	D	0.000186	T	0.46210	0.1381	M	0.90198	3.095	0.80722	D	1	D;P;D	0.89917	0.999;0.901;1.0	D;B;D	0.79108	0.949;0.308;0.992	T	0.53697	-0.8402	10	0.87932	D	0	-8.4352	11.3605	0.49640	0.0:0.9083:0.0:0.0917	.	190;313;313	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	H	313;104;313;249	ENSP00000378359:R313H;ENSP00000384997:R104H;ENSP00000237653:R313H;ENSP00000426187:R249H	ENSP00000237653:R313H	R	-	2	0	ADH6	100347652	0.998000	0.40836	0.403000	0.26384	0.171000	0.22731	4.432000	0.59922	0.698000	0.31739	0.563000	0.77884	CGT		0.483	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		71	390	0	0	0	1	0	71	390				
SPATA5	166378	broad.mit.edu	37	4	124177183	124177183	+	Missense_Mutation	SNP	C	C	T	rs201227451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177183C>T	ENST00000274008.4	+	15	2422	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	785					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTGATGCGGCCTGGAAGAAT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18709	0.0		0.001	False		,,,				2504	0.0					ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2353-2355)Cct>Tct		spermatogenesis associated 5							132.0	121.0	125.0					4																	124177183		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:124177183C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2353C>T	4.37:g.124177183C>T	ENSP00000274008:p.Pro785Ser						p.P785S	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			15	2422	+			785					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.2353C>T	CCDS3730.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	19.26	3.794047	0.70452	.	.	ENSG00000145375	ENST00000274008	D	0.95588	-3.75	4.57	4.57	0.56435	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000003	D	0.96824	0.8963	L	0.55103	1.725	0.58432	D	0.999995	D	0.62365	0.991	D	0.70935	0.971	D	0.97492	1.0054	10	0.72032	D	0.01	-19.9527	17.5624	0.87910	0.0:1.0:0.0:0.0	.	785	Q8NB90	SPAT5_HUMAN	S	785	ENSP00000274008:P785S	ENSP00000274008:P785S	P	+	1	0	SPATA5	124396633	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.535000	0.73838	2.369000	0.80426	0.467000	0.42956	CCT		0.408	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		43	282	0	0	0	1	0	43	282				
ERBB4	2066	broad.mit.edu	37	2	212495251	212495251	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212495251G>T	ENST00000342788.4	-	17	2325	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D|ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	672					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AACATAAACAGCAAATGTCAG	0.403										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2014-2016)gCt>gAt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							102.0	107.0	105.0					2																	212495251		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212495251G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2015C>A	2.37:g.212495251G>T	ENSP00000342235:p.Ala672Asp	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D	p.A672D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	17	2325	-		Renal(323;0.06)|Lung NSC(271;0.197)	672					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2015C>A	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.021134|5.021134	0.93462|0.93462	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.76186|.	-0.99;-1.0;-1.0|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76478|0.76478	0.3993|0.3993	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	1.0;0.996;0.529;1.0;1.0|.	D;P;B;D;D|.	0.77004|.	0.989;0.888;0.304;0.989;0.976|.	T|T	0.74642|0.74642	-0.3597|-0.3597	10|5	0.72032|.	D|.	0.01|.	.|.	19.6599|19.6599	0.95861|0.95861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	662;662;531;672;672|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	D|M	672;672;662|662	ENSP00000342235:A672D;ENSP00000403204:A672D;ENSP00000385565:A662D|.	ENSP00000342235:A672D|.	A|L	-|-	2|1	0|2	ERBB4|ERBB4	212203496|212203496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.471000|9.471000	0.97696|0.97696	2.657000|2.657000	0.90304|0.90304	0.585000|0.585000	0.79938|0.79938	GCT|CTG		0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		113	367	1	0	9.42799e-54	1	1.17567e-53	113	367				
NAT8L	339983	broad.mit.edu	37	4	2065708	2065708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2065708G>A	ENST00000423729.2	+	3	763	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	NAT8L_ENST00000331662.3_Missense_Mutation_p.A87T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	255	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CAAGGTGGCCGCCCACAAGCT	0.662																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(763-765)Gcc>Acc		N-acetyltransferase 8-like (GCN5-related, putative)							40.0	37.0	38.0					4																	2065708		2197	4298	6495	SO:0001583	missense	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065708G>A	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.763G>A	4.37:g.2065708G>A	ENSP00000413064:p.Ala255Thr					NAT8L_ENST00000331662.3_Missense_Mutation_p.A87T	p.A255T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	763	+			255			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000423729.2	37	c.763G>A	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	G	36	5.880837	0.97062	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.37235	1.21;1.21	5.31	5.31	0.75309	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.68796	0.3040	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76323	-0.3001	10	0.87932	D	0	-0.0397	18.5588	0.91093	0.0:0.0:1.0:0.0	.	255	Q8N9F0	NAT8L_HUMAN	T	255;87	ENSP00000413064:A255T;ENSP00000328464:A87T	ENSP00000328464:A87T	A	+	1	0	NAT8L	2035506	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	9.634000	0.98435	2.484000	0.83849	0.457000	0.33378	GCC		0.662	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		29	139	0	0	0	1	0	29	139				
FAM20A	54757	broad.mit.edu	37	17	66535523	66535523	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66535523G>T	ENST00000592554.1	-	10	2038	c.1316C>A	c.(1315-1317)tCc>tAc	p.S439Y	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	439					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TTCATCATGGGAGTGTCGTCC	0.517																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(1315-1317)tCc>tAc		family with sequence similarity 20, member A							147.0	130.0	136.0					17																	66535523		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66535523G>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1316C>A	17.37:g.66535523G>T	ENSP00000468308:p.Ser439Tyr					FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.S439Y	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			10	2038	-	Breast(10;1.64e-13)		439					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.1316C>A	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318924	0.81469	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.78916	2.43	0.80722	D	1	D;D	0.64830	0.994;0.957	D;P	0.66847	0.947;0.844	T	0.70901	-0.4746	9	0.02654	T	1	-42.1522	20.3437	0.98782	0.0:0.0:1.0:0.0	.	439;301	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	Y	439;43	.	ENSP00000226094:S439Y	S	-	2	0	FAM20A	64047118	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.394000	0.73223	2.815000	0.96918	0.561000	0.74099	TCC		0.517	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		41	265	1	0	1.76056e-25	1	2.02043e-25	41	265				
CYP26B1	56603	broad.mit.edu	37	2	72371289	72371289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371289C>T	ENST00000001146.2	-	2	461	c.258G>A	c.(256-258)acG>acA	p.T86T	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	86					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCAACAAATGCGTCTTGAACA	0.637																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(256-258)acG>acA		cytochrome P450, family 26, subfamily B, polypeptide 1							92.0	84.0	87.0					2																	72371289		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72371289C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.258G>A	2.37:g.72371289C>T						CYP26B1_ENST00000546307.1_Intron	p.T86T	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			2	461	-			86					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.258G>A	CCDS1919.1																																																																																				0.637	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		101	493	0	0	0	1	0	101	493				
C11orf63	79864	broad.mit.edu	37	11	122774741	122774741	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122774741G>A	ENST00000531316.1	+	2	545	c.453G>A	c.(451-453)acG>acA	p.T151T	C11orf63_ENST00000307257.6_Silent_p.T151T|C11orf63_ENST00000227349.2_Silent_p.T151T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	151					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGGAGTCCACGGACAGCTCTT	0.532																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(451-453)acG>acA		chromosome 11 open reading frame 63							84.0	94.0	91.0					11																	122774741		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122774741G>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.453G>A	11.37:g.122774741G>A						C11orf63_ENST00000531316.1_Silent_p.T151T|C11orf63_ENST00000307257.6_Silent_p.T151T	p.T151T	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	750	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	151					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.453G>A	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		151	623	0	0	0	1	0	151	623				
GLP1R	2740	broad.mit.edu	37	6	39034062	39034062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39034062G>A	ENST00000373256.4	+	5	535	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	164					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TCGCCTCTGCGATCCTCCTCG	0.587																																						ENST00000373256.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(490-492)gcG>gcA		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						148.0	112.0	124.0					6																	39034062		2203	4300	6503	SO:0001819	synonymous_variant	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39034062G>A		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.492G>A	6.37:g.39034062G>A							p.A164A	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			5	535	+			164					Q2M229|Q99669	Silent	SNP	ENST00000373256.4	37	c.492G>A	CCDS4839.1																																																																																				0.587	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			27	141	0	0	0	1	0	27	141				
UBR2	23304	broad.mit.edu	37	6	42656018	42656018	+	Missense_Mutation	SNP	C	C	A	rs377215716		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42656018C>A	ENST00000372899.1	+	45	5176	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	UBR2_ENST00000372901.1_Missense_Mutation_p.L1640M|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1640					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGGATCTCTGCTGTGCTCCCA	0.537																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(4918-4920)Ctg>Atg		ubiquitin protein ligase E3 component n-recognin 2							196.0	184.0	188.0					6																	42656018		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42656018C>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4918C>A	6.37:g.42656018C>A	ENSP00000361990:p.Leu1640Met					UBR2_ENST00000372901.1_Missense_Mutation_p.L1640M|UBR2_ENST00000372883.3_3'UTR	p.L1640M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		45	5176	+	Colorectal(47;0.196)		1640					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.4918C>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282912	0.80692	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.69040	-0.37;-0.37	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.80993	-0.1134	10	0.72032	D	0.01	-20.2185	14.5261	0.67890	0.0:0.93:0.0:0.07	.	228;1640;1640	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	M	1640	ENSP00000361990:L1640M;ENSP00000361992:L1640M	ENSP00000361990:L1640M	L	+	1	2	UBR2	42763996	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.699000	0.47077	2.885000	0.99019	0.655000	0.94253	CTG		0.537	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		43	897	1	0	5.20006e-24	1	5.93142e-24	43	897				
BRINP1	1620	broad.mit.edu	37	9	121930116	121930116	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121930116C>T	ENST00000265922.3	-	8	1993	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	511					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGTGTCGAGGCGGATCTCGTT	0.562																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1531-1533)cGc>cAc									248.0	176.0	201.0					9																	121930116		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930116C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1532G>A	9.37:g.121930116C>T	ENSP00000265922:p.Arg511His					DBC1_ENST00000482797.1_Intron	p.R511H	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1993	-			511					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1532G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637290	0.87760	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20881	2.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.33675	-0.9859	10	0.72032	D	0.01	-21.531	19.91	0.97023	0.0:1.0:0.0:0.0	.	511	O60477	DBC1_HUMAN	H	511	ENSP00000265922:R511H	ENSP00000265922:R511H	R	-	2	0	DBC1	120969937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.019000	0.70818	2.702000	0.92279	0.655000	0.94253	CGC		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		12	285	0	0	0	1	0	12	285				
CASZ1	54897	broad.mit.edu	37	1	10714519	10714519	+	Missense_Mutation	SNP	C	C	T	rs201455408		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10714519C>T	ENST00000377022.3	-	10	2112	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	599					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AACTGGCAGTCGGCTGTGCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20415	0.0		0.001	False		,,,				2504	0.0					ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1795-1797)Gac>Aac		castor zinc finger 1							144.0	128.0	134.0					1																	10714519		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714519C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1795G>A	1.37:g.10714519C>T	ENSP00000366221:p.Asp599Asn					CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N	p.D599N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2112	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	599					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1795G>A	CCDS41246.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.40	3.821316	0.71028	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.87	4.87	0.63330	.	0.194076	0.53938	D	0.000050	T	0.56514	0.1990	N	0.12746	0.255	0.45464	D	0.998434	P;D;D	0.62365	0.851;0.981;0.991	B;P;P	0.57911	0.147;0.481;0.829	T	0.62139	-0.6917	9	0.44086	T	0.13	-42.6794	18.4056	0.90535	0.0:1.0:0.0:0.0	.	623;599;599	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	N	599	.	ENSP00000339445:D599N	D	-	1	0	CASZ1	10637106	1.000000	0.71417	0.942000	0.38095	0.790000	0.44656	4.571000	0.60879	2.421000	0.82119	0.561000	0.74099	GAC		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		44	375	0	0	0	1	0	44	375				
KIAA1614	57710	broad.mit.edu	37	1	180904329	180904329	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904329C>T	ENST00000367588.4	+	5	1339	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	KIAA1614_ENST00000367587.1_Silent_p.S49S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	428										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCACACGAGCGATTCCTCCA	0.677																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1282-1284)agC>agT		KIAA1614							11.0	15.0	14.0					1																	180904329		2028	4180	6208	SO:0001819	synonymous_variant	57710							g.chr1:180904329C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1284C>T	1.37:g.180904329C>T						KIAA1614_ENST00000367587.1_Silent_p.S49S	p.S428S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1339	+			428					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.1284C>T	CCDS41442.1																																																																																				0.677	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		20	75	0	0	0	1	0	20	75				
PGP	283871	broad.mit.edu	37	16	2264199	2264199	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264199G>A	ENST00000333503.7	-	1	609	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	194					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						CCCACGAGCAGGCAGCCGGGC	0.706																																					GBM(63;906 1080 2092 17773 18795)	ENST00000333503.7																			0				skin(1)	1						c.(580-582)Ctg>Ttg		phosphoglycolate phosphatase							10.0	12.0	12.0					16																	2264199		2049	4163	6212	SO:0001819	synonymous_variant	283871				carbohydrate metabolic process		phosphoglycolate phosphatase activity	g.chr16:2264199G>A	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.580C>T	16.37:g.2264199G>A							p.L194L	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN			1	609	-			194						Silent	SNP	ENST00000333503.7	37	c.580C>T	CCDS42104.1																																																																																				0.706	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	NM_024118		22	92	0	0	0	1	0	22	92				
CEP72	55722	broad.mit.edu	37	5	653215	653215	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:653215A>G	ENST00000264935.5	+	12	1981	c.1891A>G	c.(1891-1893)Atg>Gtg	p.M631V	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	631					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CAAGAAGACCATGGCCCTGTT	0.612																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1891-1893)Atg>Gtg		centrosomal protein 72kDa							65.0	58.0	60.0					5																	653215		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:653215A>G	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1891A>G	5.37:g.653215A>G	ENSP00000264935:p.Met631Val					CEP72_ENST00000444221.1_3'UTR	p.M631V	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		12	1981	+			631					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.1891A>G	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	A	1.946	-0.442362	0.04604	.	.	ENSG00000112877	ENST00000264935	T	0.09445	2.98	4.94	-5.89	0.02282	.	0.697067	0.13278	N	0.400000	T	0.06050	0.0157	L	0.33485	1.01	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	10	0.30078	T	0.28	-4.3171	6.7257	0.23355	0.2447:0.4177:0.3375:0.0	.	631	Q9P209	CEP72_HUMAN	V	631	ENSP00000264935:M631V	ENSP00000264935:M631V	M	+	1	0	CEP72	706215	0.000000	0.05858	0.068000	0.19968	0.061000	0.15899	-1.330000	0.02675	-1.005000	0.03417	-0.425000	0.05940	ATG		0.612	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		26	182	0	0	0	1	0	26	182				
LY6K	54742	broad.mit.edu	37	8	143781978	143781978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143781978C>T	ENST00000292430.6	+	1	450	c.33C>T	c.(31-33)gcC>gcT	p.A11A	LY6K_ENST00000522591.1_Silent_p.A11A|LY6K_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000519387.1_Silent_p.A11A|LY6K_ENST00000518841.1_Silent_p.A11A|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	11						anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGTCGTGGCCCTACCGCGGG	0.701																																						ENST00000522591.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10						c.(31-33)gcC>gcT		lymphocyte antigen 6 complex, locus K							15.0	17.0	16.0					8																	143781978		2191	4290	6481	SO:0001819	synonymous_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143781978C>T	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.33C>T	8.37:g.143781978C>T						LY6K_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000518841.1_Silent_p.A11A|LY6K_ENST00000519387.1_Silent_p.A11A|LY6K_ENST00000292430.6_Silent_p.A11A	p.A11A			Q17RY6	LY6K_HUMAN			1	89	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		11					G3V116|O15227|Q9BVD7	Silent	SNP	ENST00000292430.6	37	c.33C>T	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	C	6.895	0.534679	0.13188	.	.	ENSG00000160886	ENST00000522591	.	.	.	1.81	0.905	0.19307	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	4.1569	0.10265	0.0:0.7807:0.0:0.2193	.	.	.	.	L	30	.	.	P	+	2	0	LY6K	143778980	0.009000	0.17119	0.005000	0.12908	0.045000	0.14185	0.541000	0.23207	0.321000	0.23259	0.305000	0.20034	CCC		0.701	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		11	50	0	0	0	1	0	11	50				
NMUR2	56923	broad.mit.edu	37	5	151771983	151771983	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771983C>A	ENST00000255262.3	-	4	1182	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	339					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGATCACATTCTGGAATGCTG	0.507																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1015-1017)caG>caT		neuromedin U receptor 2							133.0	126.0	128.0					5																	151771983		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151771983C>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1017G>T	5.37:g.151771983C>A	ENSP00000255262:p.Gln339His						p.Q339H	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		4	1182	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	339					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.1017G>T	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493059	0.26774	.	.	ENSG00000132911	ENST00000255262	T	0.37584	1.19	5.0	3.16	0.36331	.	0.515296	0.17367	N	0.176803	T	0.25568	0.0622	L	0.34521	1.04	0.24922	N	0.991976	P	0.36438	0.553	B	0.35510	0.204	T	0.12578	-1.0542	10	0.52906	T	0.07	-3.5584	7.8999	0.29729	0.0:0.6997:0.1371:0.1632	.	339	Q9GZQ4	NMUR2_HUMAN	H	339	ENSP00000255262:Q339H	ENSP00000255262:Q339H	Q	-	3	2	NMUR2	151752176	0.497000	0.26067	0.167000	0.22817	0.225000	0.24961	0.854000	0.27791	1.213000	0.43380	0.467000	0.42956	CAG		0.507	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		19	571	1	0	6.33239e-15	1	6.89894e-15	19	571				
ZNF33B	7582	broad.mit.edu	37	10	43088932	43088932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088932C>A	ENST00000359467.3	-	5	1580	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R489I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATGTGAGTTCTCTGATGCTG	0.403																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			1	Substitution - Missense(1)	p.R489I(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1465-1467)aGa>aTa		zinc finger protein 33B							98.0	92.0	94.0					10																	43088932		2203	4299	6502	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088932C>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1466G>T	10.37:g.43088932C>A	ENSP00000352444:p.Arg489Ile					ZNF33B_ENST00000486187.1_RNA	p.R489I	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1580	-			489					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1466G>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453187	0.26161	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.58	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240647	0.21572	N	0.072393	T	0.19127	0.0459	L	0.53671	1.685	0.36585	D	0.873766	B	0.26876	0.162	B	0.21708	0.036	T	0.11717	-1.0576	10	0.49607	T	0.09	.	3.204	0.06659	0.2641:0.5903:0.0:0.1456	.	489	Q06732	ZN33B_HUMAN	I	489;455	ENSP00000352444:R489I	ENSP00000352444:R489I	R	-	2	0	ZNF33B	42408938	0.000000	0.05858	0.997000	0.53966	0.760000	0.43138	-0.204000	0.09425	0.639000	0.30564	0.416000	0.27883	AGA		0.403	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		79	340	1	0	2.64105e-45	1	3.2384e-45	79	340				
CNNM4	26504	broad.mit.edu	37	2	97427977	97427977	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427977A>C	ENST00000377075.2	+	1	1339	c.1241A>C	c.(1240-1242)gAg>gCg	p.E414A		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	414	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCGAAGACGAGCAGTCCAAT	0.507																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1240-1242)gAg>gCg		cyclin M4							140.0	134.0	136.0					2																	97427977		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427977A>C	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1241A>C	2.37:g.97427977A>C	ENSP00000366275:p.Glu414Ala						p.E414A	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1339	+			414			CBS 1.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1241A>C	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193286	0.58017	.	.	ENSG00000158158	ENST00000377075	T	0.77489	-1.1	5.05	5.05	0.67936	Cystathionine beta-synthase, core (1);	0.118012	0.56097	D	0.000032	D	0.87724	0.6249	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.89117	0.3500	10	0.62326	D	0.03	-6.8455	13.8067	0.63236	1.0:0.0:0.0:0.0	.	414	Q6P4Q7	CNNM4_HUMAN	A	414	ENSP00000366275:E414A	ENSP00000366275:E414A	E	+	2	0	CNNM4	96791704	1.000000	0.71417	0.993000	0.49108	0.469000	0.32828	9.281000	0.95811	1.909000	0.55274	0.533000	0.62120	GAG		0.507	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		155	534	0	0	0	1	0	155	534				
SIN3A	25942	broad.mit.edu	37	15	75682033	75682033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75682033G>T	ENST00000394947.3	-	16	3295	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D	SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D|SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CATGGTAAAGGCAATGTAGGC	0.498																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2980-2982)gCc>gAc		SIN3 transcription regulator family member A							220.0	163.0	182.0					15																	75682033		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75682033G>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2981C>A	15.37:g.75682033G>T	ENSP00000378402:p.Ala994Asp					SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D|SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D	p.A994D	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			16	3295	-			994						Missense_Mutation	SNP	ENST00000394947.3	37	c.2981C>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783921	0.90282	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47869	0.83;0.83;0.83	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.73962	2.25	0.80722	D	1	P	0.49358	0.923	P	0.51615	0.675	T	0.63915	-0.6529	10	0.48119	T	0.1	-15.6064	18.4191	0.90582	0.0:0.0:1.0:0.0	.	994	Q96ST3	SIN3A_HUMAN	D	994	ENSP00000378402:A994D;ENSP00000378403:A994D;ENSP00000353622:A994D	ENSP00000353622:A994D	A	-	2	0	SIN3A	73469086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.801000	0.85960	2.592000	0.87571	0.650000	0.86243	GCC		0.498	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		74	352	1	0	4.83814e-26	1	5.56701e-26	74	352				
AKAP13	11214	broad.mit.edu	37	15	86124899	86124899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86124899G>A	ENST00000394518.2	+	7	3695	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	AKAP13_ENST00000361243.2_Silent_p.E1200E|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1200					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGACATGGAGCTCTCAGCCC	0.587																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3598-3600)gaG>gaA		A kinase (PRKA) anchor protein 13							57.0	55.0	55.0					15																	86124899		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124899G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3600G>A	15.37:g.86124899G>A						AKAP13_ENST00000361243.2_Silent_p.E1200E	p.E1200E	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3695	+			1200					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.3600G>A	CCDS32319.1																																																																																				0.587	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	231	0	0	0	1	0	7	231				
HAUS3	79441	broad.mit.edu	37	4	2242216	2242216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2242216C>T	ENST00000243706.4	-	2	687	c.458G>A	c.(457-459)gGa>gAa	p.G153E	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	153					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATTTAGAATTCCTTGACTCTG	0.353																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(457-459)gGa>gAa		HAUS augmin-like complex, subunit 3							127.0	124.0	125.0					4																	2242216		2203	4300	6503	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242216C>T	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.458G>A	4.37:g.2242216C>T	ENSP00000243706:p.Gly153Glu					POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E|HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E	p.G153E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	687	-			153					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.458G>A	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020179	0.19433	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.39997	1.05;1.05	5.29	2.27	0.28462	.	0.300119	0.28683	U	0.014487	T	0.23410	0.0566	L	0.32530	0.975	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.19946	0.027;0.01	T	0.29088	-1.0023	10	0.02654	T	1	-47.7984	6.0954	0.20017	0.0:0.5297:0.29:0.1803	.	153;153	B4DF64;Q68CZ6	.;HAUS3_HUMAN	E	153	ENSP00000243706:G153E;ENSP00000392903:G153E	ENSP00000243706:G153E	G	-	2	0	HAUS3	2212014	0.000000	0.05858	0.528000	0.27938	0.982000	0.71751	0.596000	0.24044	0.640000	0.30582	0.655000	0.94253	GGA		0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		43	283	0	0	0	1	0	43	283				
POLR1B	84172	broad.mit.edu	37	2	113333196	113333196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113333196C>T	ENST00000263331.5	+	15	3878	c.3298C>T	c.(3298-3300)Ctg>Ttg	p.L1100L	POLR1B_ENST00000541869.1_Silent_p.L1138L|POLR1B_ENST00000417433.2_Silent_p.L1044L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000537335.1_Silent_p.L889L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1100					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAACTGTACTCTGTGTAGTCG	0.458																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3298-3300)Ctg>Ttg		polymerase (RNA) I polypeptide B, 128kDa							142.0	121.0	128.0					2																	113333196		2203	4300	6503	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113333196C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3298C>T	2.37:g.113333196C>T						POLR1B_ENST00000541869.1_Silent_p.L1138L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000417433.2_Silent_p.L1044L|POLR1B_ENST00000537335.1_Silent_p.L889L	p.L1100L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3878	+			1100					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.3298C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	4.802	0.149075	0.09185	.	.	ENSG00000125630	ENST00000536096	.	.	.	5.37	-3.41	0.04839	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.38933	D	0.957993	.	.	.	.	.	.	T	0.64592	-0.6371	5	0.87932	D	0	-6.2206	8.4804	0.33038	0.0848:0.1293:0.6273:0.1586	.	.	.	.	F	458	.	ENSP00000441192:S458F	S	+	2	0	POLR1B	113049667	0.003000	0.15002	0.000000	0.03702	0.962000	0.63368	0.042000	0.13949	-0.551000	0.06175	-0.262000	0.10625	TCT		0.458	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		140	364	0	0	0	1	0	140	364				
PLXNA4	91584	broad.mit.edu	37	7	131853310	131853310	+	Missense_Mutation	SNP	G	G	A	rs369917118		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131853310G>A	ENST00000359827.3	-	22	5001	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C			Q9HCM2	PLXA4_HUMAN	plexin A4	1347					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCTCCACACGCTCCTGCCGG	0.602																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4039-4041)Cgt>Tgt		plexin A4		G	CYS/ARG	0,4404		0,0,2202	48.0	55.0	52.0		4039	5.5	1.0	7		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA4	NM_020911.1	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	1347/1895	131853310	1,13003	2202	4300	6502	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853310G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4039C>T	7.37:g.131853310G>A	ENSP00000352882:p.Arg1347Cys					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C	p.R1347C			Q9HCM2	PLXA4_HUMAN			22	5001	-			1347					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4039C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392914	0.62066	0.0	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.12147	2.71;2.71	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050603	0.85682	D	0.000000	T	0.15869	0.0382	L	0.40543	1.245	0.80722	D	1	B	0.18610	0.029	B	0.13407	0.009	T	0.02546	-1.1143	10	0.56958	D	0.05	.	19.3569	0.94418	0.0:0.0:1.0:0.0	.	1347	Q9HCM2	PLXA4_HUMAN	C	1347	ENSP00000323194:R1347C;ENSP00000352882:R1347C	ENSP00000323194:R1347C	R	-	1	0	PLXNA4	131503850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.333000	0.65917	2.582000	0.87167	0.462000	0.41574	CGT		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		20	231	0	0	0	1	0	20	231				
HTATSF1	27336	broad.mit.edu	37	X	135581769	135581769	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581769T>G	ENST00000218364.4	+	2	373	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	HTATSF1_ENST00000535601.1_Missense_Mutation_p.F67V	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	67					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TACTGAAGATTTCATTGCTAC	0.388																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(199-201)Ttc>Gtc		HIV-1 Tat specific factor 1							122.0	118.0	119.0					X																	135581769		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135581769T>G	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.199T>G	X.37:g.135581769T>G	ENSP00000218364:p.Phe67Val					HTATSF1_ENST00000218364.4_Missense_Mutation_p.F67V	p.F67V	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			3	621	+	Acute lymphoblastic leukemia(192;0.000127)		67					D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.199T>G	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575253	0.86645	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.26223	1.75;1.75	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.61307	-0.7089	10	0.72032	D	0.01	-10.3323	14.8256	0.70110	0.0:0.0:0.0:1.0	.	67	O43719	HTSF1_HUMAN	V	67	ENSP00000442699:F67V;ENSP00000218364:F67V	ENSP00000218364:F67V	F	+	1	0	HTATSF1	135409435	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.337000	0.65941	1.882000	0.54519	0.481000	0.45027	TTC		0.388	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		127	488	0	0	0	1	0	127	488				
TCTN3	26123	broad.mit.edu	37	10	97440291	97440291	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97440291G>T	ENST00000371217.5	-	13	1551	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	TCTN3_ENST00000265993.9_Missense_Mutation_p.L528M|TCTN3_ENST00000430368.2_Missense_Mutation_p.L362M			Q6NUS6	TECT3_HUMAN	tectonic family member 3	510					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GGGTTGGACAGGAGACCTACA	0.463																																						ENST00000265993.8																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(1528-1530)Ctg>Atg		tectonic family member 3							213.0	201.0	205.0					10																	97440291		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97440291G>T	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1528C>A	10.37:g.97440291G>T	ENSP00000360261:p.Leu510Met					TCTN3_ENST00000371217.4_Missense_Mutation_p.L523M|TCTN3_ENST00000430368.1_Missense_Mutation_p.L362M	p.L510M	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	13	1771	-		Colorectal(252;0.0815)	510					A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.1528C>A	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910012	0.52439	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.85861	-2.04	5.57	4.66	0.58398	.	1.096970	0.06730	N	0.776530	D	0.89649	0.6776	M	0.73598	2.24	0.24577	N	0.993896	P;P;P	0.46621	0.836;0.8;0.881	P;B;P	0.53185	0.572;0.347;0.72	T	0.78157	-0.2313	10	0.33940	T	0.23	-37.034	10.7357	0.46124	0.0896:0.0:0.9104:0.0	.	362;510;332	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	M	510;362;528;332	ENSP00000265993:L510M	ENSP00000265993:L510M	L	-	1	2	TCTN3	97430281	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	2.974000	0.49272	2.640000	0.89533	0.655000	0.94253	CTG		0.463	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		17	835	1	0	3.52763e-06	1	3.62938e-06	17	835				
PCNT	5116	broad.mit.edu	37	21	47754626	47754626	+	Missense_Mutation	SNP	C	C	T	rs199564971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47754626C>T	ENST00000359568.5	+	3	690	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	195					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGAACAGCGTGGGATCTT	0.488																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(583-585)Cgt>Tgt		pericentrin							185.0	139.0	155.0					21																	47754626		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754626C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.583C>T	21.37:g.47754626C>T	ENSP00000352572:p.Arg195Cys					PCNT_ENST00000480896.1_3'UTR	p.R195C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	690	+	Breast(49;0.112)		195					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.583C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	1.981	-0.434157	0.04669	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01685	4.69	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01353	0.0044	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	8	0.54805	T	0.06	.	.	.	.	.	77;195	O95613-2;O95613	.;PCNT_HUMAN	C	195;182	ENSP00000352572:R195C	ENSP00000338675:R182C	R	+	1	0	PCNT	46579054	0.219000	0.23619	0.002000	0.10522	0.002000	0.02628	0.882000	0.28186	-0.671000	0.05274	-0.657000	0.03884	CGT		0.488	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		40	353	0	0	0	1	0	40	353				
NOC4L	79050	broad.mit.edu	37	12	132636673	132636673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636673C>T	ENST00000330579.1	+	14	1403	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	NOC4L_ENST00000538784.1_Silent_p.S69S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	454					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AAGCCGCCAGCGTCATCAACC	0.692																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1360-1362)agC>agT		nucleolar complex associated 4 homolog (S. cerevisiae)							40.0	33.0	36.0					12																	132636673		2196	4288	6484	SO:0001819	synonymous_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132636673C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1362C>T	12.37:g.132636673C>T						NOC4L_ENST00000538784.1_Silent_p.S69S	p.S454S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	14	1403	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		454					Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	c.1362C>T	CCDS9277.1																																																																																				0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		28	153	0	0	0	1	0	28	153				
EIF4A2	1974	broad.mit.edu	37	3	186505616	186505616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186505616G>A	ENST00000323963.5	+	10	1088	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M|SNORD2_ENST00000459163.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363548.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	342	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGTGCAACAAGTGTCTTTGGT	0.368			T	BCL6	NHL																																	ENST00000323963.5				Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28						c.(1024-1026)Gtg>Atg		eukaryotic translation initiation factor 4A2							94.0	95.0	95.0					3																	186505616		2203	4299	6502	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186505616G>A	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1024G>A	3.37:g.186505616G>A	ENSP00000326381:p.Val342Met					EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M	p.V342M			Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	10	1088	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		342			Helicase C-terminal.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.1024G>A	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759885	0.89932	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.09350	2.99;2.99;2.99	5.43	5.43	0.79202	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	H	0.99249	4.485	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70935	0.965;0.952;0.971	T	0.74140	-0.3761	10	0.87932	D	0	.	17.0851	0.86609	0.0:0.0:1.0:0.0	.	247;343;342	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	M	342;343;247	ENSP00000326381:V342M;ENSP00000398370:V343M;ENSP00000348925:V247M	ENSP00000326381:V342M	V	+	1	0	EIF4A2	187988310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.344000	0.97050	2.709000	0.92574	0.563000	0.77884	GTG		0.368	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		78	303	0	0	0	1	0	78	303				
KCNK3	3777	broad.mit.edu	37	2	26951010	26951010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951010C>T	ENST00000302909.3	+	2	884	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	253					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	ACGCCGAGGACGAGAAGCGCG	0.682																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(757-759)gaC>gaT		potassium channel, subfamily K, member 3							47.0	35.0	39.0					2																	26951010		2201	4299	6500	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26951010C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.759C>T	2.37:g.26951010C>T							p.D253D	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	884	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		253					Q53SU2	Silent	SNP	ENST00000302909.3	37	c.759C>T	CCDS1727.1																																																																																				0.682	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		31	48	0	0	0	1	0	31	48				
PMS2CL	441194	broad.mit.edu	37	7	6769787	6769787	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6769787G>T	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		CCCCGGGAAGGACACCCTCCT	0.731																																						ENST00000486256.1																			0																																																			0							g.chr7:6769787G>T	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6769787G>T								NR_002217.1						0	346	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.731	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		10	22	1	0	1.76689e-08	1	1.84553e-08	10	22				
ARHGEF18	23370	broad.mit.edu	37	19	7509198	7509198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7509198G>A	ENST00000359920.6	+	4	1158	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R144H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A260T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	302	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCATTGGCCGCCTCTTCCCA	0.647																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(904-906)cGc>cAc		Rho/Rac guanine nucleotide exchange factor (GEF) 18							65.0	57.0	60.0					19																	7509198		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7509198G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.905G>A	19.37:g.7509198G>A	ENSP00000352995:p.Arg302His					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R144H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A260T	p.R302H	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			4	1158	+		Renal(5;0.0902)	302			DH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.905G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570399	0.28003	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.63096	-0.02;-0.02	4.96	1.64	0.23874	Dbl homology (DH) domain (5);	0.270493	0.26499	N	0.024023	T	0.54431	0.1858	M	0.77103	2.36	0.35332	D	0.785731	B	0.32893	0.389	B	0.27608	0.081	T	0.57400	-0.7818	10	0.59425	D	0.04	-10.1281	4.5546	0.12130	0.2289:0.0:0.6109:0.1602	.	302	Q6ZSZ5	ARHGI_HUMAN	H	144;302	ENSP00000319200:R144H;ENSP00000352995:R302H	ENSP00000319200:R144H	R	+	2	0	ARHGEF18	7415198	0.692000	0.27719	0.946000	0.38457	0.043000	0.13939	0.865000	0.27940	0.153000	0.19213	0.556000	0.70494	CGC		0.647	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		49	244	0	0	0	1	0	49	244				
POU4F3	5459	broad.mit.edu	37	5	145719317	145719317	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145719317C>T	ENST00000230732.4	+	2	416	c.327C>T	c.(325-327)caC>caT	p.H109H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	109					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCTCACCACGCCGTGCACC	0.677																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(325-327)caC>caT		POU class 4 homeobox 3							127.0	109.0	115.0					5																	145719317		2203	4300	6503	SO:0001819	synonymous_variant	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719317C>T	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.327C>T	5.37:g.145719317C>T						CTC-359M8.1_ENST00000515598.1_RNA	p.H109H	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	416	+			109					O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	37	c.327C>T	CCDS4281.1																																																																																				0.677	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		8	422	0	0	0	1	0	8	422				
HR	55806	broad.mit.edu	37	8	21986450	21986450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986450G>A	ENST00000381418.4	-	2	1714	c.234C>T	c.(232-234)ggC>ggT	p.G78G	HR_ENST00000312841.8_Silent_p.G78G|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	78					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGGCCCTCGCCCTCCACAA	0.652																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(232-234)ggC>ggT		hair growth associated							44.0	46.0	45.0					8																	21986450		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986450G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.234C>T	8.37:g.21986450G>A						HR_ENST00000312841.8_Silent_p.G78G	p.G78G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	1714	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	78					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.234C>T	CCDS6022.1																																																																																				0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			60	264	0	0	0	1	0	60	264				
PLEC	5339	broad.mit.edu	37	8	144997340	144997340	+	Missense_Mutation	SNP	C	C	T	rs62641756	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997340C>T	ENST00000322810.4	-	31	7337	c.7168G>A	c.(7168-7170)Gca>Aca	p.A2390T	PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2390	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAGATGAGTGCGCGGTTCTCA	0.642													C|||	19	0.00379393	0.0144	0.0	5008	,	,		19154	0.0		0.0	False		,,,				2504	0.0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7168-7170)Gca>Aca		plectin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	33,4355		0,33,2161	26.0	26.0	26.0		6757,6769,6757,6661,7168,6691,6715,6838	0.9	0.0	8	dbSNP_129	26	1,8583		0,1,4291	yes	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	58,58,58,58,58,58,58,58	0,34,6452	TT,TC,CC		0.0116,0.7521,0.2621	benign,benign,benign,benign,benign,benign,benign,benign	2253/4548,2257/4552,2253/4548,2221/4516,2390/4685,2231/4526,2239/4534,2280/4575	144997340	34,12938	2194	4292	6486	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997340C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7168G>A	8.37:g.144997340C>T	ENSP00000323856:p.Ala2390Thr					PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T	p.A2390T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7337	-			2390			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7168G>A	CCDS43772.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	1.455	-0.564004	0.03939	0.007521	1.16E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76448	-0.98;-0.98;-1.02;-1.01;-1.0;-0.98;-0.98;-0.98;-0.98	5.2	0.864	0.19068	.	0.662221	0.13678	U	0.370411	T	0.53610	0.1807	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.13594	0.008;0.008;0.008;0.004;0.008;0.008;0.008;0.008	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.39683	-0.9602	10	0.23302	T	0.38	.	10.7897	0.46426	0.0:0.6631:0.0:0.3369	.	2280;2239;2231;2390;2221;2253;2257;2253	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	2253;2257;2253;2221;2390;2231;2239;2280;2276	ENSP00000344848:A2253T;ENSP00000350277:A2257T;ENSP00000346602:A2253T;ENSP00000381756:A2221T;ENSP00000323856:A2390T;ENSP00000347044:A2231T;ENSP00000348702:A2239T;ENSP00000388180:A2280T;ENSP00000434583:A2276T	ENSP00000323856:A2390T	A	-	1	0	PLEC	145069328	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.228000	0.09114	0.222000	0.20900	-0.235000	0.12190	GCA		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		42	146	0	0	0	1	0	42	146				
LCT	3938	broad.mit.edu	37	2	136575093	136575093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136575093C>A	ENST00000264162.2	-	6	1535	c.1525G>T	c.(1525-1527)Gga>Tga	p.G509*	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	509	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCTGCCATCCACCATGATCC	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1525-1527)Gga>Tga		lactase							102.0	88.0	93.0					2																	136575093		2203	4300	6503	SO:0001587	stop_gained	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575093C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1525G>T	2.37:g.136575093C>A	ENSP00000264162:p.Gly509*						p.G509*	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1535	-			509			4 X approximate repeats.		Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	c.1525G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677799	0.88445	.	.	ENSG00000115850	ENST00000264162	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.8763	19.7399	0.96223	0.0:1.0:0.0:0.0	.	.	.	.	X	509	.	ENSP00000264162:G509X	G	-	1	0	LCT	136291563	1.000000	0.71417	0.752000	0.31206	0.020000	0.10135	7.776000	0.85560	2.736000	0.93811	0.561000	0.74099	GGA		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		42	263	1	0	1.22674e-20	1	1.37621e-20	42	263				
SETD5	55209	broad.mit.edu	37	3	9517250	9517250	+	Missense_Mutation	SNP	G	G	T	rs373046266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9517250G>T	ENST00000406341.1	+	22	3994	c.3804G>T	c.(3802-3804)caG>caT	p.Q1268H	SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000402466.1_Missense_Mutation_p.Q1170H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1287H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1268	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATCCTACACAGTCTCCAGGAT	0.522																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3508-3510)caG>caT		SET domain containing 5							75.0	70.0	72.0					3																	9517250		1900	4118	6018	SO:0001583	missense	55209							g.chr3:9517250G>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3804G>T	3.37:g.9517250G>T	ENSP00000383939:p.Gln1268His					SETD5_ENST00000407969.1_Missense_Mutation_p.Q1287H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q1268H	p.Q1170H			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4278	+	Medulloblastoma(99;0.227)		1268			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.3510G>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705524	0.48412	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92647	-2.74;-3.08;-2.74;-2.74;-3.08	5.57	0.0657	0.14358	.	0.000000	0.64402	D	0.000003	D	0.89298	0.6675	N	0.24115	0.695	0.27653	N	0.947312	D;D;P	0.59767	0.986;0.986;0.94	P;P;P	0.57152	0.814;0.814;0.459	D	0.84108	0.0399	10	0.59425	D	0.04	-4.3563	9.924	0.41481	0.3264:0.0:0.559:0.1146	.	937;1170;1268	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	H	1268;1170;1268;1287;1170	ENSP00000385852:Q1268H;ENSP00000384429:Q1170H;ENSP00000383939:Q1268H;ENSP00000384114:Q1287H;ENSP00000302028:Q1170H	ENSP00000302028:Q1170H	Q	+	3	2	SETD5	9492250	0.122000	0.22280	0.988000	0.46212	0.957000	0.61999	-0.783000	0.04638	-0.529000	0.06358	-0.332000	0.08345	CAG		0.522	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		36	328	1	0	2.05212e-20	1	2.2997e-20	36	328				
NYNRIN	57523	broad.mit.edu	37	14	24877997	24877997	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877997C>A	ENST00000382554.3	+	4	1315	c.997C>A	c.(997-999)Ctc>Atc	p.L333I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	333					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGATAAACTCCTCTTCCAACC	0.592																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(997-999)Ctc>Atc		NYN domain and retroviral integrase containing							55.0	61.0	59.0					14																	24877997		2092	4221	6313	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877997C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.997C>A	14.37:g.24877997C>A	ENSP00000371994:p.Leu333Ile						p.L333I	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	1315	+			333					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.997C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	4.780	0.144986	0.09134	.	.	ENSG00000205978	ENST00000382554	T	0.09723	2.95	5.15	-0.429	0.12303	.	1.504540	0.04431	N	0.369299	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.39143	-0.9628	10	0.59425	D	0.04	.	4.3648	0.11220	0.0:0.3338:0.1908:0.4754	.	333	Q9P2P1	NYNRI_HUMAN	I	333	ENSP00000371994:L333I	ENSP00000371994:L333I	L	+	1	0	NYNRIN	23947837	0.000000	0.05858	0.177000	0.23020	0.115000	0.19883	0.005000	0.13129	0.024000	0.15214	-0.136000	0.14681	CTC		0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			28	156	1	0	4.59853e-10	1	4.86106e-10	28	156				
LECT2	3950	broad.mit.edu	37	5	135287026	135287026	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135287026A>G	ENST00000274507.1	-	3	375	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	LECT2_ENST00000514447.2_Silent_p.L59L|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.L59L|LECT2_ENST00000512872.1_5'UTR|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	59					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGAGCACAAGATGTCCACA	0.473																																						ENST00000274507.1																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(175-177)Ttg>Ctg		leukocyte cell-derived chemotaxin 2							126.0	111.0	116.0					5																	135287026		2203	4300	6503	SO:0001819	synonymous_variant	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135287026A>G	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.175T>C	5.37:g.135287026A>G						LECT2_ENST00000512872.1_5'UTR|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000522943.1_Silent_p.L59L|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000514447.2_Silent_p.L59L	p.L59L	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	375	-			59					B2RA90|O14565|Q52M49	Silent	SNP	ENST00000274507.1	37	c.175T>C	CCDS4190.1																																																																																				0.473	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		55	230	0	0	0	1	0	55	230				
TRRAP	8295	broad.mit.edu	37	7	98552800	98552800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552800C>T	ENST00000359863.4	+	40	5998	c.5789C>T	c.(5788-5790)gCg>gTg	p.A1930V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1912V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1911V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1930					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGACCCCGGCGGTGCCGGCC	0.592																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5788-5790)gCg>gTg		transformation/transcription domain-associated protein							49.0	45.0	46.0					7																	98552800		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98552800C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5789C>T	7.37:g.98552800C>T	ENSP00000352925:p.Ala1930Val					TRRAP_ENST00000355540.3_Missense_Mutation_p.A1912V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1911V	p.A1930V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		40	5998	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1930					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.5789C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.203775|5.203775	0.95033|0.95033	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.51071|.	0.72;0.72|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72203|0.72203	0.3431|0.3431	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;B;B|.	0.61697|.	0.99;0.125;0.294|.	B;B;B|.	0.43623|.	0.425;0.033;0.033|.	T|T	0.68484|0.68484	-0.5396|-0.5396	10|5	0.15952|.	T|.	0.53|.	.|.	19.5376|19.5376	0.95260|0.95260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1912;1651;1930|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1930;1912;1910|1652	ENSP00000352925:A1930V;ENSP00000347733:A1912V|.	ENSP00000347733:A1912V|.	A|R	+|+	2|1	0|2	TRRAP|TRRAP	98390736|98390736	1.000000|1.000000	0.71417|0.71417	0.238000|0.238000	0.24106|0.24106	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	288	0	0	0	1	0	9	288				
DENND5A	23258	broad.mit.edu	37	11	9200460	9200460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9200460C>A	ENST00000328194.3	-	7	1936	c.1616G>T	c.(1615-1617)aGc>aTc	p.S539I	DENND5A_ENST00000530044.1_Missense_Mutation_p.S539I|DENND5A_ENST00000526523.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	539	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTATCCTGGCTGGGTTGGAT	0.433																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1615-1617)aGc>aTc		DENN/MADD domain containing 5A							152.0	133.0	140.0					11																	9200460		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9200460C>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1616G>T	11.37:g.9200460C>A	ENSP00000328524:p.Ser539Ile					DENND5A_ENST00000530044.1_Missense_Mutation_p.S539I	p.S539I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			7	1936	-			539			dDENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.1616G>T	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687429	0.68157	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.47177	0.85;0.85	5.06	5.06	0.68205	dDENN (3);	0.043766	0.85682	D	0.000000	T	0.56673	0.2001	L	0.29908	0.895	0.80722	D	1	P;P	0.49447	0.91;0.924	P;P	0.60473	0.752;0.875	T	0.58538	-0.7619	10	0.54805	T	0.06	.	18.7769	0.91915	0.0:1.0:0.0:0.0	.	539;539	E9PS91;Q6IQ26	.;DEN5A_HUMAN	I	539	ENSP00000328524:S539I;ENSP00000435866:S539I	ENSP00000328524:S539I	S	-	2	0	DENND5A	9157036	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.168000	0.50801	2.498000	0.84270	0.655000	0.94253	AGC		0.433	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		109	453	1	0	1.71345e-61	1	2.15751e-61	109	453				
DIRC1	116093	broad.mit.edu	37	2	189599453	189599453	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189599453G>A	ENST00000308100.4	-	2	465	c.195C>T	c.(193-195)tgC>tgT	p.C65C	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	65										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			GTTTATAAAAGCATGTGTCTG	0.408																																						ENST00000308100.4																			0				large_intestine(1)|lung(6)	7						c.(193-195)tgC>tgT		disrupted in renal carcinoma 1							157.0	153.0	155.0					2																	189599453		2203	4300	6503	SO:0001819	synonymous_variant	116093							g.chr2:189599453G>A	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.195C>T	2.37:g.189599453G>A						AC079613.1_ENST00000431708.1_RNA	p.C65C	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	465	-			65					Q08AK1	Silent	SNP	ENST00000308100.4	37	c.195C>T	CCDS2296.1																																																																																				0.408	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		169	523	0	0	0	1	0	169	523				
GLIPR1	11010	broad.mit.edu	37	12	75875790	75875790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75875790G>A	ENST00000266659.3	+	2	552	c.351G>A	c.(349-351)tgG>tgA	p.W117*	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	117	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TCACAAACTGGTATGACGAAA	0.468																																						ENST00000266659.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(349-351)tgG>tgA		GLI pathogenesis-related 1							111.0	98.0	102.0					12																	75875790		2203	4300	6503	SO:0001587	stop_gained	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75875790G>A	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.351G>A	12.37:g.75875790G>A	ENSP00000266659:p.Trp117*						p.W117*	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN			2	552	+			117					A7YET6|F8VUC2|Q15409|Q969K2	Nonsense_Mutation	SNP	ENST00000266659.3	37	c.351G>A	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530799	0.64860	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2657	0.90051	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000266659:W117X	W	+	3	0	GLIPR1	74162057	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	7.752000	0.85141	2.756000	0.94617	0.561000	0.74099	TGG		0.468	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		95	437	0	0	0	1	0	95	437				
NOTCH4	4855	broad.mit.edu	37	6	32164146	32164146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32164146G>A	ENST00000375023.3	-	29	5391	c.5253C>T	c.(5251-5253)cgC>cgT	p.R1751R	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1751					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGAAGCGAGCGGGCGGCTC	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5251-5253)cgC>cgT		notch 4							118.0	135.0	129.0					6																	32164146		1509	2708	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32164146G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5253C>T	6.37:g.32164146G>A						NOTCH4_ENST00000443903.2_Intron	p.R1751R	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			29	5391	-			1751					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5253C>T	CCDS34420.1																																																																																				0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			164	794	0	0	0	1	0	164	794				
NOTCH2	4853	broad.mit.edu	37	1	120506274	120506274	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120506274C>A	ENST00000256646.2	-	11	2057	c.1838G>T	c.(1837-1839)aGc>aTc	p.S613I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	613	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAGGGCTGCTGTAACATTC	0.527			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1837-1839)aGc>aTc		notch 2							247.0	210.0	223.0					1																	120506274		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120506274C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1838G>T	1.37:g.120506274C>A	ENSP00000256646:p.Ser613Ile						p.S613I	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2057	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	613			EGF-like 16; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1838G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779348	0.90195	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	T	0.09630	2.96	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45126	U	0.000381	T	0.37679	0.1012	M	0.90977	3.165	0.80722	D	1	P;P;D	0.89917	0.786;0.927;1.0	P;P;D	0.91635	0.595;0.739;0.999	T	0.40701	-0.9549	10	0.62326	D	0.03	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	574;613;613	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	I	613;574	ENSP00000256646:S613I	ENSP00000256646:S613I	S	-	2	0	NOTCH2	120307797	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.729000	0.84864	2.861000	0.98227	0.655000	0.94253	AGC		0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		93	851	1	0	5.52034e-35	1	6.58082e-35	93	851				
ALOX12P2	245	broad.mit.edu	37	17	6799936	6799936	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6799936G>A	ENST00000574727.1	+	0	1287									arachidonate 12-lipoxygenase pseudogene 2											endometrium(1)	1						TCCCCCCATGGCCTGGCTCCT	0.587																																						ENST00000574727.1																			0				endometrium(1)	1																																														0							g.chr17:6799936G>A	AF020774		17p13.1	2014-03-18			ENSG00000262943	ENSG00000262943			432	pseudogene	pseudogene						9691181	Standard	NR_002710		Approved		uc002gdv.3		OTTHUMG00000177324		17.37:g.6799936G>A														0	1287	+									RNA	SNP	ENST00000574727.1	37																																																																																						0.587	ALOX12P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436284.1			3	21	0	0	0	1	0	3	21				
IQSEC3	440073	broad.mit.edu	37	12	271138	271138	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:271138C>A	ENST00000538872.1	+	8	2608	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Silent_p.I830I|IQSEC3_ENST00000382841.2_Silent_p.I527I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	830	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTAGGCATCTATGAGAGGA	0.577																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2488-2490)atC>atA		IQ motif and Sec7 domain 3							115.0	78.0	91.0					12																	271138		2203	4299	6502	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:271138C>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2490C>A	12.37:g.271138C>A						IQSEC3_ENST00000382841.2_Silent_p.I527I|IQSEC3_ENST00000326261.4_Silent_p.I830I	p.I830I			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	8	2608	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		830			SEC7.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.2490C>A	CCDS53728.1																																																																																				0.577	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		27	100	1	0	9.04412e-07	1	9.34585e-07	27	100				
BCAR1	9564	broad.mit.edu	37	16	75267776	75267776	+	Missense_Mutation	SNP	G	G	A	rs142603608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75267776G>A	ENST00000162330.5	-	6	2194	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000546196.1_Missense_Mutation_p.R661W|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W|BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	690					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGCCCTGCCGCGTGATGCTG	0.642																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(1981-1983)Cgg>Tgg		breast cancer anti-estrogen resistance 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	39.0	35.0	37.0		2206,2122,2122,2122,2068,2062,1624,1438,2068	4.4	1.0	16	dbSNP_134	37	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	101,101,101,101,101,101,101,101,101	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	736/917,708/889,708/889,708/889,690/871,688/869,542/723,480/661,690/871	75267776	2,12992	2198	4299	6497	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75267776G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2068C>T	16.37:g.75267776G>A	ENSP00000162330:p.Arg690Trp					BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W|BCAR1_ENST00000162330.5_Missense_Mutation_p.R690W|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000566982.1_5'UTR	p.R661W			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	3633	-			690					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.1981C>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994052	0.74703	0.0	2.33E-4	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.34	4.37	0.52481	CAS family, DUF3513 (1);	0.125811	0.50627	D	0.000115	T	0.41213	0.1149	L	0.43152	1.355	0.40525	D	0.980876	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.99;0.997;0.995;0.995;0.997;0.985;0.997;0.994	T	0.33979	-0.9847	10	0.72032	D	0.01	-47.822	11.3366	0.49507	0.0:0.0:0.67:0.33	.	708;542;736;688;708;708;690;690;480	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	W	690;708;708;690;736;542;708;688;661	ENSP00000162330:R690W;ENSP00000377074:R708W;ENSP00000392708:R708W;ENSP00000443841:R690W;ENSP00000391669:R736W;ENSP00000440370:R542W;ENSP00000377072:R708W;ENSP00000440415:R688W;ENSP00000442161:R661W	ENSP00000162330:R690W	R	-	1	2	BCAR1	73825277	0.987000	0.35691	1.000000	0.80357	0.839000	0.47603	1.029000	0.30140	1.368000	0.46115	0.655000	0.94253	CGG		0.642	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		13	67	0	0	0	1	0	13	67				
DLC1	10395	broad.mit.edu	37	8	12957919	12957919	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957919G>A	ENST00000276297.4	-	9	2336	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DLC1_ENST00000520226.1_Missense_Mutation_p.P132S|DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000512044.2_Missense_Mutation_p.P240S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	643					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTTCCTTGGGAGAGGGCAGG	0.572																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1927-1929)Ccc>Tcc		deleted in liver cancer 1							91.0	87.0	89.0					8																	12957919		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957919G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1927C>T	8.37:g.12957919G>A	ENSP00000276297:p.Pro643Ser					DLC1_ENST00000512044.2_Missense_Mutation_p.P240S|DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000520226.1_Missense_Mutation_p.P132S	p.P643S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2336	-			643					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1927C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753415	0.69648	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07567	3.48;3.28;3.27;3.18	4.89	4.89	0.63831	.	0.108634	0.64402	D	0.000005	T	0.26810	0.0656	L	0.56769	1.78	0.80722	D	1	D;B;D	0.71674	0.97;0.127;0.998	P;B;D	0.77557	0.664;0.041;0.99	T	0.00290	-1.1843	10	0.52906	T	0.07	.	18.6244	0.91332	0.0:0.0:1.0:0.0	.	643;240;206	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	643;206;240;132	ENSP00000276297:P643S;ENSP00000351797:P206S;ENSP00000422595:P240S;ENSP00000428028:P132S	ENSP00000276297:P643S	P	-	1	0	DLC1	13002290	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.657000	0.83745	2.699000	0.92147	0.655000	0.94253	CCC		0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		127	602	0	0	0	1	0	127	602				
TRANK1	9881	broad.mit.edu	37	3	36897035	36897035	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897035C>A	ENST00000429976.2	-	12	4293	c.4046G>T	c.(4045-4047)aGc>aTc	p.S1349I	TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I|TRANK1_ENST00000301807.6_Missense_Mutation_p.S799I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1349							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTGAAGAGGCTGTAGATCTC	0.483																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4045-4047)aGc>aTc		tetratricopeptide repeat and ankyrin repeat containing 1							90.0	93.0	92.0					3																	36897035		1911	4113	6024	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897035C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4046G>T	3.37:g.36897035C>A	ENSP00000416168:p.Ser1349Ile					TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I|TRANK1_ENST00000301807.6_Missense_Mutation_p.S799I	p.S1349I			O15050	TRNK1_HUMAN			12	4293	-			1349					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4046G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	4.429	0.079359	0.08533	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81996	-1.56;-1.56;-1.56	5.46	-1.71	0.08133	.	1.536190	0.03332	N	0.193583	T	0.74741	0.3756	N	0.24115	0.695	0.09310	N	1	B	0.32939	0.391	B	0.38428	0.273	T	0.64508	-0.6391	10	0.46703	T	0.11	.	7.0783	0.25217	0.0:0.2959:0.1271:0.577	.	1349	O15050	TRNK1_HUMAN	I	799;1349;799	ENSP00000416826:S799I;ENSP00000416168:S1349I;ENSP00000301807:S799I	ENSP00000301807:S799I	S	-	2	0	TRANK1	36872039	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.412000	0.02476	-0.030000	0.13804	0.561000	0.74099	AGC		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		115	543	1	0	4.16533e-50	1	5.15817e-50	115	543				
GRM5	2915	broad.mit.edu	37	11	88300442	88300442	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300442A>C	ENST00000305447.4	-	7	2558	c.2409T>G	c.(2407-2409)tgT>tgG	p.C803W	GRM5_ENST00000305432.5_Missense_Mutation_p.C803W|GRM5_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_Missense_Mutation_p.C803W|GRM5_ENST00000418177.2_Missense_Mutation_p.C803W	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	803					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TGACCGAGAAACACATGGTGA	0.502																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2407-2409)tgT>tgG		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						147.0	125.0	132.0					11																	88300442		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300442A>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2409T>G	11.37:g.88300442A>C	ENSP00000306138:p.Cys803Trp					GRM5_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000305432.5_Missense_Mutation_p.C803W|GRM5_ENST00000305447.4_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_Missense_Mutation_p.C803W	p.C803W			P41594	GRM5_HUMAN			8	2776	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	803					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2409T>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892150	0.52014	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.58	-0.931	0.10438	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91364	0.5114	9	.	.	.	.	10.6791	0.45804	0.5453:0.0:0.4547:0.0	.	803;803	P41594-2;P41594	.;GRM5_HUMAN	W	803	ENSP00000402912:C803W;ENSP00000405690:C803W;ENSP00000305905:C803W;ENSP00000306138:C803W;ENSP00000376975:C803W	.	C	-	3	2	GRM5	87940090	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	2.133000	0.42093	-0.165000	0.10908	0.459000	0.35465	TGT		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		89	399	0	0	0	1	0	89	399				
GGT5	2687	broad.mit.edu	37	22	24622114	24622114	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622114C>T	ENST00000327365.4	-	8	1575	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	GGT5_ENST00000263112.7_Missense_Mutation_p.G355S|GGT5_ENST00000398292.3_Missense_Mutation_p.G387S|GGT5_ENST00000418439.2_Missense_Mutation_p.G310S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	387					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGGACGTGCCTGTCCCGTGG	0.692																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1159-1161)Ggc>Agc		gamma-glutamyltransferase 5							30.0	31.0	31.0					22																	24622114		2203	4299	6502	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622114C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1159G>A	22.37:g.24622114C>T	ENSP00000330080:p.Gly387Ser					GGT5_ENST00000263112.7_Missense_Mutation_p.G355S|GGT5_ENST00000398292.3_Missense_Mutation_p.G387S|GGT5_ENST00000418439.2_Missense_Mutation_p.G310S	p.G387S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1575	-			387					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1159G>A	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715644	0.68844	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.995;1.0	D;D;D;D;D	0.91635	0.984;0.99;0.999;0.97;0.999	T	0.29912	-0.9996	10	0.72032	D	0.01	-35.4785	15.122	0.72450	0.0:1.0:0.0:0.0	.	310;355;387;387;387	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	S	387;355;302;387;310	ENSP00000330080:G387S;ENSP00000263112:G355S;ENSP00000381340:G387S;ENSP00000392146:G310S	ENSP00000263112:G355S	G	-	1	0	GGT5	22952114	1.000000	0.71417	0.990000	0.47175	0.058000	0.15608	6.805000	0.75191	2.262000	0.75019	0.485000	0.47835	GGC		0.692	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		28	144	0	0	0	1	0	28	144				
TNFAIP8L3	388121	broad.mit.edu	37	15	51350473	51350473	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51350473C>A	ENST00000327536.5	-	3	583	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	162										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATCTTGTGGGCTTCCTTCTTG	0.458																																						ENST00000327536.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11						c.(484-486)Gcc>Tcc		tumor necrosis factor, alpha-induced protein 8-like 3							334.0	269.0	291.0					15																	51350473		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51350473C>A	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.484G>T	15.37:g.51350473C>A	ENSP00000328016:p.Ala162Ser					RP11-108K3.1_ENST00000559909.1_lincRNA	p.A162S	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	3	583	-			162					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.484G>T	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813604	0.90790	.	.	ENSG00000183578	ENST00000327536	T	0.38722	1.12	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.58354	1.805	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62618	-0.6816	10	0.54805	T	0.06	-14.7162	18.3372	0.90293	0.0:1.0:0.0:0.0	.	162	Q5GJ75	TP8L3_HUMAN	S	162	ENSP00000328016:A162S	ENSP00000328016:A162S	A	-	1	0	TNFAIP8L3	49137765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.725000	0.61979	2.569000	0.86673	0.508000	0.49915	GCC		0.458	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		94	601	1	0	4.09499e-44	1	5.00728e-44	94	601				
SLC27A1	376497	broad.mit.edu	37	19	17581359	17581359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17581359C>T	ENST00000252595.7	+	1	107	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.P4S	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	4					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GATGCGGGCTCCGGGTGCGGG	0.771																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(10-12)Ccg>Tcg		solute carrier family 27 (fatty acid transporter), member 1							4.0	4.0	4.0					19																	17581359		1847	3679	5526	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17581359C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.10C>T	19.37:g.17581359C>T	ENSP00000252595:p.Pro4Ser					SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.P4S	p.P4S	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			1	107	+			4					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.10C>T	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.520282	0.44866	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.43294	0.95;0.95	3.33	2.19	0.27852	.	0.703723	0.12393	U	0.472835	T	0.29158	0.0725	N	0.25647	0.755	0.25964	N	0.982589	B	0.20261	0.043	B	0.19946	0.027	T	0.21586	-1.0241	10	0.56958	D	0.05	.	8.4965	0.33132	0.0:0.5922:0.4078:0.0	.	4	Q6PCB7	S27A1_HUMAN	S	4	ENSP00000413424:P4S;ENSP00000252595:P4S	ENSP00000252595:P4S	P	+	1	0	SLC27A1	17442359	0.003000	0.15002	0.989000	0.46669	0.688000	0.40055	1.100000	0.31025	1.701000	0.51217	0.479000	0.44913	CCG		0.771	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		8	31	0	0	0	1	0	8	31				
FCGBP	8857	broad.mit.edu	37	19	40408716	40408716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40408716G>A	ENST00000221347.6	-	8	4130	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1375	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGTGACCCGCACATAGTAC	0.582																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(4123-4125)Cgg>Tgg		Fc fragment of IgG binding protein							108.0	93.0	98.0					19																	40408716		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40408716G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4123C>T	19.37:g.40408716G>A	ENSP00000221347:p.Arg1375Trp						p.R1375W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4130	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1375			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.4123C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073992	0.36566	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.91	1.21	0.21127	von Willebrand factor, type D domain (3);	0.310015	0.25291	N	0.031721	T	0.43831	0.1265	L	0.60067	1.865	0.27621	N	0.94833	B	0.30851	0.297	B	0.25140	0.058	T	0.35051	-0.9804	10	0.45353	T	0.12	.	3.2293	0.06742	0.0867:0.1356:0.3748:0.403	.	1375	Q9Y6R7	FCGBP_HUMAN	W	1375	ENSP00000221347:R1375W	ENSP00000221347:R1375W	R	-	1	2	FCGBP	45100556	0.000000	0.05858	0.992000	0.48379	0.492000	0.33523	-0.080000	0.11339	0.460000	0.27045	0.644000	0.83932	CGG		0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		44	382	0	0	0	1	0	44	382				
DHX16	8449	broad.mit.edu	37	6	30638717	30638717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30638717C>A	ENST00000376442.3	-	3	654	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	153					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TCTCTGTCTGCTGTTTACTCC	0.562																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(457-459)caG>caT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							176.0	130.0	147.0					6																	30638717		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30638717C>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.459G>T	6.37:g.30638717C>A	ENSP00000365625:p.Gln153His						p.Q153H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			3	654	-			153					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.459G>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	9.311	1.055593	0.19907	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.65549	-0.16;1.94	4.58	2.72	0.32119	.	0.832667	0.10921	N	0.619429	T	0.18676	0.0448	N	0.08118	0	0.39635	D	0.970235	B;B	0.33841	0.428;0.428	B;B	0.17979	0.02;0.014	T	0.06058	-1.0848	10	0.39692	T	0.17	.	7.9777	0.30164	0.0:0.7938:0.0:0.2062	.	93;153	B4DZ28;O60231	.;DHX16_HUMAN	H	153;93	ENSP00000365625:Q153H;ENSP00000399101:Q93H	ENSP00000365625:Q153H	Q	-	3	2	DHX16	30746696	0.000000	0.05858	0.154000	0.22540	0.678000	0.39670	-0.331000	0.07914	1.133000	0.42147	0.454000	0.30748	CAG		0.562	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		110	463	1	0	7.8952e-62	1	9.94632e-62	110	463				
NCK1	4690	broad.mit.edu	37	3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136667191C>T	ENST00000481752.1	+	4	1194	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|NCK1_ENST00000469404.1_Missense_Mutation_p.R280C			P16333	NCK1_HUMAN	NCK adaptor protein 1	344	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(838-840)Cgt>Tgt		NCK adaptor protein 1							97.0	93.0	94.0					3																	136667191		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136667191C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.1030C>T	3.37:g.136667191C>T	ENSP00000417273:p.Arg344Cys					NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|NCK1_ENST00000481752.1_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron	p.R280C	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			3	929	+			344					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.838C>T	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198929	0.79015	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.81	4.93	0.64822	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.87097	2.86	0.80722	D	1	D;P	0.53151	0.958;0.939	P;P	0.50537	0.635;0.643	T	0.79279	-0.1869	10	0.87932	D	0	.	13.1657	0.59569	0.0:0.9208:0.0:0.0792	.	280;344	B7Z751;P16333	.;NCK1_HUMAN	C	344;344;280;147	ENSP00000288986:R344C;ENSP00000417273:R344C;ENSP00000419631:R280C;ENSP00000418060:R147C	ENSP00000288986:R344C	R	+	1	0	NCK1	138149881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	2.756000	0.94617	0.655000	0.94253	CGT		0.348	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		58	263	0	0	0	1	0	58	263				
MLLT10	8028	broad.mit.edu	37	10	22019972	22019972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22019972C>T	ENST00000307729.7	+	17	2385	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I|MLLT10_ENST00000377072.3_Missense_Mutation_p.T752I|MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	736	Transactivation domain; required for DOT1L-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAACAGGGTACTCCTAGTGAC	0.433			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2254-2256)aCt>aTt		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							151.0	144.0	146.0					10																	22019972		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22019972C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2207C>T	10.37:g.22019972C>T	ENSP00000307411:p.Thr736Ile					MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I|MLLT10_ENST00000307729.7_Missense_Mutation_p.T736I|MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I	p.T752I	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			18	2603	+			752			Transactivation domain.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2255C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595286	0.86953	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.3	5.3	0.74995	.	0.150213	0.64402	D	0.000012	T	0.26011	0.0634	L	0.41236	1.265	0.50813	D	0.999893	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;P;D	0.83275	0.996;0.991;0.795;0.991	T	0.00899	-1.1522	10	0.30078	T	0.28	.	18.9445	0.92616	0.0:1.0:0.0:0.0	.	431;736;736;752	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	I	752;736;736;571;736	ENSP00000366272:T752I;ENSP00000401406:T736I;ENSP00000307411:T736I;ENSP00000366258:T736I	ENSP00000307411:T736I	T	+	2	0	MLLT10	22059978	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.020000	0.76419	2.466000	0.83321	0.561000	0.74099	ACT		0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			102	579	0	0	0	1	0	102	579				
OLFM2	93145	broad.mit.edu	37	19	9965413	9965413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965413C>T	ENST00000264833.4	-	6	999	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	272	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TTGTACACCACGTGGCCCGTG	0.612																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(814-816)Gtg>Atg		olfactomedin 2							52.0	51.0	51.0					19																	9965413		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965413C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.814G>A	19.37:g.9965413C>T	ENSP00000264833:p.Val272Met					OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	p.V272M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	999	-			272			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.814G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566389	0.65651	.	.	ENSG00000105088	ENST00000264833	D	0.91996	-2.95	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.64402	D	0.000001	D	0.95762	0.8621	M	0.89601	3.045	0.80722	D	1	D	0.60575	0.988	P	0.58130	0.833	D	0.96273	0.9200	9	.	.	.	.	14.6457	0.68759	0.0:1.0:0.0:0.0	.	272	O95897	NOE2_HUMAN	M	272	ENSP00000264833:V272M	.	V	-	1	0	OLFM2	9826413	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.556000	0.82233	2.291000	0.77112	0.561000	0.74099	GTG		0.612	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			33	155	0	0	0	1	0	33	155				
SPCS3	60559	broad.mit.edu	37	4	177249379	177249379	+	Silent	SNP	T	T	G	rs377141735		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177249379T>G	ENST00000503362.1	+	5	554	c.441T>G	c.(439-441)tcT>tcG	p.S147S	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	147					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TGACCCTGTCTTGGAACGTCG	0.363																																						ENST00000503362.1																			0				ovary(2)	2						c.(439-441)tcT>tcG		signal peptidase complex subunit 3 homolog (S. cerevisiae)		T		0,3706		0,0,1853	113.0	104.0	107.0		441	3.2	1.0	4		107	1,8185		0,1,4092	no	coding-synonymous	SPCS3	NM_021928.3		0,1,5945	GG,GT,TT		0.0122,0.0,0.0084		147/181	177249379	1,11891	1853	4093	5946	SO:0001819	synonymous_variant	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177249379T>G	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.441T>G	4.37:g.177249379T>G						SPCS3_ENST00000507001.1_3'UTR	p.S147S	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	5	554	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	147					P12280|Q9H0S7	Silent	SNP	ENST00000503362.1	37	c.441T>G	CCDS54823.1																																																																																				0.363	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		9	245	0	0	0	1	0	9	245				
TECTB	6975	broad.mit.edu	37	10	114053586	114053586	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053586G>T	ENST00000369422.3	+	5	574	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	192	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAAGCCAAAGGGTTAAGCAT	0.388																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(574-576)Ggg>Tgg		tectorin beta							150.0	150.0	150.0					10																	114053586		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114053586G>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.574G>T	10.37:g.114053586G>T	ENSP00000358430:p.Gly192Trp						p.G192W	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	5	574	+		Colorectal(252;0.198)	192			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.574G>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178868	0.78564	.	.	ENSG00000119913	ENST00000369422	D	0.82526	-1.62	5.97	5.97	0.96955	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.166094	0.53938	D	0.000052	D	0.90215	0.6941	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.90484	0.4462	10	0.87932	D	0	.	18.6193	0.91316	0.0:0.0:1.0:0.0	.	192	Q96PL2	TECTB_HUMAN	W	192	ENSP00000358430:G192W	ENSP00000358430:G192W	G	+	1	0	TECTB	114043576	1.000000	0.71417	0.994000	0.49952	0.680000	0.39746	8.328000	0.90014	2.836000	0.97738	0.655000	0.94253	GGG		0.388	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		51	224	1	0	1.0442e-30	1	1.22599e-30	51	224				
CAMSAP2	23271	broad.mit.edu	37	1	200824013	200824013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200824013C>T	ENST00000236925.4	+	15	3974	c.3925C>T	c.(3925-3927)Cca>Tca	p.P1309S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P1282S|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.P1298S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1309					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CAAGAGGACGCCAAGGTAAAT	0.343																																						ENST00000358823.2																			0											c.(3892-3894)Cca>Tca		calmodulin regulated spectrin-associated protein family, member 2							78.0	74.0	76.0					1																	200824013		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200824013C>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3925C>T	1.37:g.200824013C>T	ENSP00000236925:p.Pro1309Ser					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P1309S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P1282S	p.P1298S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			14	4162	+			1309					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3892C>T		.	.	.	.	.	.	.	.	.	.	C	14.95	2.689177	0.48097	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.13420	2.6;2.59;2.61	5.93	5.93	0.95920	.	0.253892	0.44902	D	0.000415	T	0.08537	0.0212	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.27416	0.178;0.112;0.178	B;B;B	0.29862	0.108;0.05;0.108	T	0.25641	-1.0126	10	0.07644	T	0.81	-18.2629	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1282;1309;1298	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	1298;1282;1309	ENSP00000351684:P1298S;ENSP00000416800:P1282S;ENSP00000236925:P1309S	ENSP00000236925:P1309S	P	+	1	0	CAMSAP1L1	199090636	1.000000	0.71417	0.894000	0.35097	0.975000	0.68041	4.663000	0.61532	2.814000	0.96858	0.563000	0.77884	CCA		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		50	135	0	0	0	1	0	50	135				
MAML1	9794	broad.mit.edu	37	5	179201852	179201852	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201852T>C	ENST00000292599.3	+	5	3288	c.3025T>C	c.(3025-3027)Ttg>Ctg	p.L1009L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGAGTGATTTGGACGACCT	0.463																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(3025-3027)Ttg>Ctg		mastermind-like 1 (Drosophila)							122.0	113.0	116.0					5																	179201852		2202	4300	6502	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201852T>C	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.3025T>C	5.37:g.179201852T>C						MAML1_ENST00000503050.1_Intron	p.L1009L	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	3288	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1009						Silent	SNP	ENST00000292599.3	37	c.3025T>C	CCDS34315.1																																																																																				0.463	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		118	629	0	0	0	1	0	118	629				
ST6GALNAC5	81849	broad.mit.edu	37	1	77528857	77528857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:77528857C>A	ENST00000477717.1	+	5	1212	c.977C>A	c.(976-978)gCt>gAt	p.A326D		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	326					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GAATCACTTGCTATAAATCAT	0.423																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(976-978)gCt>gAt		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							100.0	94.0	96.0					1																	77528857		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77528857C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.977C>A	1.37:g.77528857C>A	ENSP00000417583:p.Ala326Asp						p.A326D	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			5	1212	+			326					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.977C>A	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585205	0.46110	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.34859	1.34	5.93	5.03	0.67393	.	0.490215	0.23922	N	0.043231	T	0.12263	0.0298	L	0.29908	0.895	0.19775	N	0.99996	B	0.15473	0.013	B	0.18561	0.022	T	0.14144	-1.0483	10	0.19147	T	0.46	-20.5352	15.0068	0.71519	0.0:0.9318:0.0:0.0682	.	326	Q9BVH7	SIA7E_HUMAN	D	326;236	ENSP00000417583:A326D	ENSP00000406658:A236D	A	+	2	0	ST6GALNAC5	77301445	0.886000	0.30341	0.800000	0.32199	0.652000	0.38707	3.612000	0.54142	1.511000	0.48818	0.655000	0.94253	GCT		0.423	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		7	405	1	0	2.0095e-06	1	2.07161e-06	7	405				
CEP170	9859	broad.mit.edu	37	1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T	rs375934140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(2983-2985)cGt>cAt		centrosomal protein 170kDa		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3752		0,0,1876	94.0	86.0	89.0		2690,2690,2984	4.9	1.0	1		89	1,8197		0,1,4098	no	missense,missense,missense	CEP170	NM_001042404.1,NM_001042405.1,NM_014812.2	29,29,29	0,1,5974	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	897/1487,897/1461,995/1585	243328278	1,11949	1876	4099	5975	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243328278C>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2984G>A	1.37:g.243328278C>T	ENSP00000355500:p.Arg995His					RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000437499.1_RNA	p.R995H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3035	-	all_neural(11;0.101)	all_cancers(173;0.003)	995			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.2984G>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238361|3.238361	0.58886|0.58886	0.0|0.0	1.22E-4|1.22E-4	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000336415	T;T;T|.	0.48201|.	0.84;0.83;0.82|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.061588|.	0.64402|.	D|.	0.000002|.	T|T	0.66346|0.66346	0.2780|0.2780	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.993;0.993;0.994|.	T|T	0.63834|0.63834	-0.6547|-0.6547	10|5	0.42905|.	T|.	0.14|.	-6.9291|-6.9291	17.0433|17.0433	0.86495|0.86495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	958;897;897;995|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	H|I	995;897;897|959	ENSP00000355500:R995H;ENSP00000355502:R897H;ENSP00000355501:R897H|.	ENSP00000355500:R995H|.	R|V	-|-	2|1	0|0	CEP170|CEP170	241394901|241394901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	5.281000|5.281000	0.65609|0.65609	2.248000|2.248000	0.74166|0.74166	0.555000|0.555000	0.69702|0.69702	CGT|GTT		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		28	387	0	0	0	1	0	28	387				
RAPGEF6	51735	broad.mit.edu	37	5	130766994	130766994	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130766994C>T	ENST00000509018.1	-	26	4228	c.4023G>A	c.(4021-4023)tcG>tcA	p.S1341S	RAPGEF6_ENST00000507093.1_Silent_p.S1349S|CTC-432M15.3_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1341	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCTCACAGACGATGAGACAG	0.423																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4021-4023)tcG>tcA		Rap guanine nucleotide exchange factor (GEF) 6							84.0	84.0	84.0					5																	130766994		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766994C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4023G>A	5.37:g.130766994C>T						RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S|FNIP1_ENST00000514667.1_Silent_p.S1391S	p.S1341S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4228	-			1341			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	c.4023G>A	CCDS34225.1																																																																																				0.423	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		71	302	0	0	0	1	0	71	302				
SMG5	23381	broad.mit.edu	37	1	156247016	156247016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156247016C>A	ENST00000361813.5	-	4	458	c.314G>T	c.(313-315)aGc>aTc	p.S105I	SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	105					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCAAAGTGCTCCGGCTGTG	0.522																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(313-315)aGc>aTc		SMG5 nonsense mediated mRNA decay factor							64.0	55.0	58.0					1																	156247016		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156247016C>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.314G>T	1.37:g.156247016C>A	ENSP00000355261:p.Ser105Ile					SMG5_ENST00000368267.4_Missense_Mutation_p.S105I	p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			4	458	-	Hepatocellular(266;0.158)		105					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.314G>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916478	0.92249	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17691	2.26;2.26	5.92	5.92	0.95590	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.43152	1.355	0.80722	D	1	P	0.39737	0.685	P	0.48901	0.594	T	0.00359	-1.1791	10	0.66056	D	0.02	-7.4881	18.8866	0.92381	0.0:1.0:0.0:0.0	.	105	Q9UPR3	SMG5_HUMAN	I	105	ENSP00000355261:S105I;ENSP00000357250:S105I	ENSP00000355261:S105I	S	-	2	0	SMG5	154513640	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.594000	0.82698	2.797000	0.96272	0.555000	0.69702	AGC		0.522	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		19	100	1	0	1.01871e-10	1	1.082e-10	19	100				
SERHL2	253190	broad.mit.edu	37	22	42967184	42967184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42967184C>T	ENST00000327678.5	+	10	808	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	SERHL2_ENST00000340239.4_Silent_p.S197S|SERHL2_ENST00000407614.4_Silent_p.L56L|SERHL2_ENST00000335879.5_Silent_p.L172L|RNU6-513P_ENST00000516104.1_RNA|RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2	0							hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CATCAGGAAGCTGCAGGCCCA	0.567																																						ENST00000327678.5																			0				breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						c.(706-708)Ctg>Ttg		serine hydrolase-like 2							132.0	104.0	113.0					22																	42967184		2203	4300	6503	SO:0001819	synonymous_variant	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42967184C>T		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.706C>T	22.37:g.42967184C>T						SERHL2_ENST00000340239.4_Silent_p.S197S|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000407614.4_Silent_p.L56L|SERHL2_ENST00000335879.5_Silent_p.L172L	p.L236L	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN			10	808	+			236					Q5JZ95|Q9UH21	Silent	SNP	ENST00000327678.5	37	c.706C>T	CCDS14037.1																																																																																				0.567	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		49	187	0	0	0	1	0	49	187				
PLXNA3	55558	broad.mit.edu	37	X	153694277	153694277	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153694277G>A	ENST00000369682.3	+	14	2707		c.e14-1			NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3						axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCTCCACAGATCCACCCTC	0.677																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.e14-1		plexin A3							47.0	46.0	46.0					X																	153694277		2202	4300	6502	SO:0001630	splice_region_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694277G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2533-1G>A	X.37:g.153694277G>A								NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			14	2707	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							Q5HY36	Splice_Site	SNP	ENST00000369682.3	37		CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771244	0.31320	.	.	ENSG00000130827	ENST00000369682	.	.	.	5.17	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8804	0.52571	0.0888:0.0:0.9112:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNA3	153347471	1.000000	0.71417	0.978000	0.43139	0.377000	0.30045	6.242000	0.72376	0.956000	0.37904	0.600000	0.82982	.		0.677	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	Intron	62	226	0	0	0	1	0	62	226				
SBK2	646643	broad.mit.edu	37	19	56042645	56042645	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56042645G>A	ENST00000413299.1	-	3	358	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SBK2_ENST00000344158.3_Silent_p.F107F	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCCACACAGAACTCGTACA	0.662																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(319-321)ttC>ttT		SH3 domain binding kinase family, member 2							37.0	44.0	42.0					19																	56042645		2129	4239	6368	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56042645G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.321C>T	19.37:g.56042645G>A						SBK2_ENST00000344158.3_Silent_p.F107F	p.F107F	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			3	358	-			107			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.321C>T	CCDS42631.1																																																																																				0.662	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		11	148	0	0	0	1	0	11	148				
LONP2	83752	broad.mit.edu	37	16	48382140	48382140	+	Missense_Mutation	SNP	G	G	A	rs199759503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48382140G>A	ENST00000285737.4	+	14	2369	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTAGTGGGCGGCTGGTACGT	0.423																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2275-2277)cGg>cAg		lon peptidase 2, peroxisomal							141.0	140.0	140.0					16																	48382140		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48382140G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2276G>A	16.37:g.48382140G>A	ENSP00000285737:p.Arg759Gln					LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q|LONP2_ENST00000564259.1_3'UTR	p.R759Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			14	2369	+			759						Missense_Mutation	SNP	ENST00000285737.4	37	c.2276G>A	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648787	0.96714	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.30714	1.52;1.52	6.17	6.17	0.99709	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.60845	1.875	0.80722	D	1	P;P	0.49090	0.919;0.919	P;P	0.44447	0.45;0.45	T	0.02829	-1.1105	10	0.25751	T	0.34	-23.1121	20.8794	0.99867	0.0:0.0:1.0:0.0	.	715;759	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	759;488;715	ENSP00000285737:R759Q;ENSP00000445426:R715Q	ENSP00000285737:R759Q	R	+	2	0	LONP2	46939641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.933000	0.87642	2.941000	0.99782	0.655000	0.94253	CGG		0.423	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		139	651	0	0	0	1	0	139	651				
UBR7	55148	broad.mit.edu	37	14	93678410	93678410	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93678410C>T	ENST00000013070.6	+	4	614	c.378C>T	c.(376-378)taC>taT	p.Y126Y	UBR7_ENST00000416753.1_Silent_p.Y50Y|RP11-371E8.4_ENST00000557048.1_3'UTR|RP11-371E8.4_ENST00000557574.1_Silent_p.Y145Y	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	126							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCAATAAGTACAATGACAACT	0.328																																						ENST00000557574.1																			0											c.(433-435)taC>taT									82.0	78.0	80.0					14																	93678410		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:93678410C>T	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.378C>T	14.37:g.93678410C>T						UBR7_ENST00000416753.1_Silent_p.Y50Y|UBR7_ENST00000013070.6_Silent_p.Y126Y|RP11-371E8.4_ENST00000557048.1_3'UTR	p.145_145insY							5	491	+								Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.435C>T	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.006|9.006	0.981241|0.981241	0.18812|0.18812	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000555113|ENST00000553857	.|.	.|.	.|.	5.89|5.89	1.59|1.59	0.23543|0.23543	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58264	.|0.2110	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52366	.|-0.8585	.|4	.|.	.|.	.|.	-0.6792|-0.6792	9.7459|9.7459	0.40446|0.40446	0.0:0.5626:0.0:0.4374|0.0:0.5626:0.0:0.4374	.|.	.|.	.|.	.|.	X|I	117|52	.|.	.|.	Q|T	+|+	1|2	0|0	UBR7|UBR7	92748163|92748163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.018000|1.018000	0.30002|0.30002	0.414000|0.414000	0.25790|0.25790	0.591000|0.591000	0.81541|0.81541	CAA|ACA		0.328	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		16	109	0	0	0	1	0	16	109				
BRD3	8019	broad.mit.edu	37	9	136918578	136918578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136918578C>T	ENST00000303407.7	-	2	207	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Missense_Mutation_p.A8T|BRD3_ENST00000357885.2_Missense_Mutation_p.A8T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	8					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCCGCGGGGGCGACTGTCGTG	0.682			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(22-24)Gcc>Acc		bromodomain containing 3							11.0	14.0	13.0					9																	136918578		2184	4281	6465	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136918578C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.22G>A	9.37:g.136918578C>T	ENSP00000305918:p.Ala8Thr					BRD3_ENST00000371834.2_Missense_Mutation_p.A8T|BRD3_ENST00000357885.2_Missense_Mutation_p.A8T	p.A8T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	2	207	-			8					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.22G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645186	0.14451	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885;ENST00000371842;ENST00000433041	T;T;T;T	0.15603	3.28;3.0;3.0;2.41	4.87	2.74	0.32292	.	0.201811	0.24876	N	0.034884	T	0.11922	0.0290	L	0.28556	0.865	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.48119	T	0.1	-11.6772	8.9493	0.35779	0.0:0.7091:0.0:0.2909	.	8;8	Q15059-2;Q15059	.;BRD3_HUMAN	T	8	ENSP00000305918:A8T;ENSP00000360900:A8T;ENSP00000350557:A8T;ENSP00000360908:A8T	ENSP00000305918:A8T	A	-	1	0	BRD3	135908399	0.481000	0.25941	0.760000	0.31359	0.127000	0.20565	0.989000	0.29629	1.045000	0.40225	-0.444000	0.05651	GCC		0.682	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		24	113	0	0	0	1	0	24	113				
GLTSCR2	29997	broad.mit.edu	37	19	48254262	48254262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48254262C>T	ENST00000246802.5	+	4	534	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	166				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGGGAGGTGCGCAGGGCCCA	0.687																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(496-498)Cgc>Tgc		glioma tumor suppressor candidate region gene 2							15.0	15.0	15.0					19																	48254262		2193	4292	6485	SO:0001583	missense	29997					nucleolus		g.chr19:48254262C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.496C>T	19.37:g.48254262C>T	ENSP00000246802:p.Arg166Cys					GLTSCR2_ENST00000598681.1_3'UTR	p.R166C	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	4	534	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	166	RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.496C>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449166	0.63178	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.46819	0.86	3.86	3.86	0.44501	.	0.160449	0.41938	D	0.000785	T	0.63827	0.2544	M	0.68317	2.08	0.51012	D	0.999903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.67201	-0.5730	10	0.72032	D	0.01	-14.0727	11.4519	0.50158	0.0:1.0:0.0:0.0	.	166;166;164	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	C	166	ENSP00000246802:R166C	ENSP00000246802:R166C	R	+	1	0	GLTSCR2	52946074	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.773000	0.55333	2.138000	0.66242	0.407000	0.27541	CGC		0.687	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		7	44	0	0	0	1	0	7	44				
ADAMDEC1	27299	broad.mit.edu	37	8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T	rs376286647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24254940C>T	ENST00000256412.4	+	6	818	c.598C>T	c.(598-600)Cga>Tga	p.R200*	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Nonsense_Mutation_p.R121*|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	200					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(361-363)Cga>Tga		ADAM-like, decysin 1							180.0	175.0	176.0					8																	24254940		2203	4300	6503	SO:0001587	stop_gained	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254940C>T	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.598C>T	8.37:g.24254940C>T	ENSP00000256412:p.Arg200*					ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R200*|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000519689.1_RNA	p.R121*	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	7	908	+		Prostate(55;0.0181)	200		M -> T (in dbSNP:rs7007084).			B7ZAK5	Nonsense_Mutation	SNP	ENST00000256412.4	37	c.361C>T	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349813	0.95830	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	.	.	.	5.53	4.63	0.57726	.	0.000000	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-6.4743	11.5455	0.50690	0.1789:0.8211:0.0:0.0	.	.	.	.	X	200;121;121	.	ENSP00000256412:R200X	R	+	1	2	ADAMDEC1	24310885	0.910000	0.30920	0.080000	0.20451	0.010000	0.07245	1.631000	0.37092	1.297000	0.44761	0.557000	0.71058	CGA		0.433	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		143	618	0	0	0	1	0	143	618				
PI4KB	5298	broad.mit.edu	37	1	151262958	151262958	+	IGR	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151262958A>C	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.E1063D			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCCTAGAGAAACATGTCCAG	0.637																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(3187-3189)gaA>gaC		zinc finger protein 687							71.0	78.0	76.0					1																	151262958		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262958A>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262958A>C							p.E1063D	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	3287	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		172					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.3189A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.01|19.01	3.744875|3.744875	0.69418|0.69418	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000368879|ENST00000336715;ENST00000324048;ENST00000426871;ENST00000436614	T|T;T	0.00638|0.01099	6.04|5.34;5.34	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Zinc finger, C2H2-like (1);	.|0.000000	.|0.36066	.|U	.|0.002808	T|T	0.01976|0.01976	0.0062|0.0062	L|L	0.56769|0.56769	1.78|1.78	0.26698|0.26698	N|N	0.971216|0.971216	D|D	0.69078|0.89917	0.997|1.0	D|D	0.64042|0.66084	0.921|0.941	T|T	0.48210|0.48210	-0.9055|-0.9055	9|10	0.08599|0.41790	T|T	0.76|0.15	.|.	12.8664|12.8664	0.57941|0.57941	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1063|1043	Q8N1G0-2|Q8N1G0	.|ZN687_HUMAN	D|T	1063|1043;1043;666;11	ENSP00000357874:E1063D|ENSP00000336620:K1043T;ENSP00000319829:K1043T	ENSP00000357874:E1063D|ENSP00000319829:K1043T	E|K	+|+	3|2	2|0	ZNF687|ZNF687	149529582|149529582	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.989000|4.989000	0.63870|0.63870	2.129000|2.129000	0.65627|0.65627	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.637	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		81	610	0	0	0	1	0	81	610				
DRG2	1819	broad.mit.edu	37	17	18007126	18007126	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18007126A>C	ENST00000225729.3	+	10	956	c.818A>C	c.(817-819)aAg>aCg	p.K273T	DRG2_ENST00000395726.4_Missense_Mutation_p.K273T|DRG2_ENST00000583355.1_Missense_Mutation_p.E79D	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	273	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TGCGGCATGAAGCTGAACCTG	0.572																																						ENST00000225729.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14						c.(817-819)aAg>aCg		developmentally regulated GTP binding protein 2							125.0	115.0	119.0					17																	18007126		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18007126A>C	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.818A>C	17.37:g.18007126A>C	ENSP00000225729:p.Lys273Thr					DRG2_ENST00000583355.1_Missense_Mutation_p.E79D|DRG2_ENST00000395726.4_Missense_Mutation_p.K273T	p.K273T	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN			10	956	+	all_neural(463;0.228)		273					B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.818A>C	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546066	0.65198	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.18657	2.2;2.2	5.33	5.33	0.75918	.	0.129729	0.64402	D	0.000002	T	0.30386	0.0763	M	0.86028	2.79	0.30455	N	0.77487	B;B	0.29862	0.259;0.072	B;B	0.24701	0.055;0.034	T	0.31447	-0.9943	10	0.36615	T	0.2	-19.2294	15.2684	0.73681	1.0:0.0:0.0:0.0	.	273;273	A8MZF9;P55039	.;DRG2_HUMAN	T	273	ENSP00000379076:K273T;ENSP00000225729:K273T	ENSP00000225729:K273T	K	+	2	0	DRG2	17947851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.840000	0.92125	2.003000	0.58678	0.459000	0.35465	AAG		0.572	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		90	459	0	0	0	1	0	90	459				
BNIP3P1	319138	broad.mit.edu	37	14	28733933	28733933	+	RNA	SNP	C	C	T	rs145922657	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:28733933C>T	ENST00000550043.1	+	0	338									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		GACGGAGTAGCTCCAAGAGTT	0.473													-|||	50	0.00998403	0.0348	0.0058	5008	,	,		16181	0.0		0.0	False		,,,				2504	0.0					ENST00000550043.1																			0																																																			0							g.chr14:28733933C>T			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733933C>T														0	338	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.473	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			55	476	0	0	0	1	0	55	476				
ZNF460	10794	broad.mit.edu	37	19	57802170	57802170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802170C>A	ENST00000360338.3	+	3	583	c.261C>A	c.(259-261)taC>taA	p.Y87*	ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCAAGATACTCCTATTTGG	0.522																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(259-261)taC>taA		zinc finger protein 460							75.0	71.0	72.0					19																	57802170		2203	4300	6503	SO:0001587	stop_gained	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802170C>A	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.261C>A	19.37:g.57802170C>A	ENSP00000353491:p.Tyr87*					ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	p.Y87*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	583	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	87			KRAB.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Nonsense_Mutation	SNP	ENST00000360338.3	37	c.261C>A	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702427	0.48307	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	.	.	.	2.06	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	5.8591	0.18736	0.3126:0.6874:0.0:0.0	.	.	.	.	X	46;87	.	ENSP00000353491:Y87X	Y	+	3	2	ZNF460	62493982	0.000000	0.05858	0.016000	0.15963	0.009000	0.06853	0.366000	0.20365	1.132000	0.42129	0.650000	0.86243	TAC		0.522	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		76	292	1	0	2.71207e-19	1	3.02352e-19	76	292				
C7orf25	79020	broad.mit.edu	37	7	42949409	42949409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949409G>A	ENST00000350427.4	-	2	1366	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M|C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M|C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGTGTCTCCCGTCCCAAAAAT	0.433																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(1090-1092)aCg>aTg		chromosome 7 open reading frame 25							83.0	81.0	82.0					7																	42949409		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949409G>A	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.1091C>T	7.37:g.42949409G>A	ENSP00000343364:p.Thr364Met					C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M|C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M	p.T364M			Q9BPX7	CG025_HUMAN			2	1366	-			364					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.1091C>T	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362771	0.61403	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.96	5.08	0.68730	.	0.047210	0.85682	D	0.000000	T	0.68622	0.3021	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.69510	-0.5126	10	0.36615	T	0.2	0.09	15.14	0.72604	0.0675:0.0:0.9325:0.0	.	422;364	B4DQM3;Q9BPX7	.;CG025_HUMAN	M	364;364;422;364	ENSP00000343364:T364M;ENSP00000413029:T364M;ENSP00000416290:T422M;ENSP00000396597:T364M	ENSP00000343364:T364M	T	-	2	0	C7orf25	42915934	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.471000	0.97696	1.525000	0.49052	-0.136000	0.14681	ACG		0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		43	304	0	0	0	1	0	43	304				
KRT34	3885	broad.mit.edu	37	17	39538384	39538384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538384C>T	ENST00000394001.1	-	1	271	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	81	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCACATTGGCGGGGATGTTG	0.652																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(241-243)Gcc>Acc		keratin 34							78.0	75.0	76.0					17																	39538384		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538384C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.241G>A	17.37:g.39538384C>T	ENSP00000377570:p.Ala81Thr						p.A81T	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			1	271	-		Breast(137;0.000496)	81			Head.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.241G>A	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.027008	0.35797	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	T	0.46288	0.1385	L	0.39245	1.2	0.31342	N	0.68358	B	0.20550	0.046	B	0.16722	0.016	T	0.53954	-0.8365	9	0.72032	D	0.01	.	14.5202	0.67844	0.1472:0.8528:0.0:0.0	.	81	O76011	KRT34_HUMAN	T	39;81	.	ENSP00000251648:A81T	A	-	1	0	KRT34	36791910	0.896000	0.30565	0.993000	0.49108	0.256000	0.26092	1.529000	0.35996	2.780000	0.95670	0.563000	0.77884	GCC		0.652	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		114	522	0	0	0	1	0	114	522				
INSM2	84684	broad.mit.edu	37	14	36004916	36004916	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004916G>A	ENST00000307169.3	+	1	1669	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ATATCAGGGAGAAGCACCGGC	0.682																																						ENST00000307169.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10						c.(1456-1458)gaG>gaA		insulinoma-associated 2							28.0	31.0	30.0					14																	36004916		2202	4299	6501	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004916G>A	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1458G>A	14.37:g.36004916G>A							p.E486E	NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1669	+	Breast(36;0.122)|Hepatocellular(127;0.158)		486					A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	c.1458G>A	CCDS9657.1																																																																																				0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			59	270	0	0	0	1	0	59	270				
ZIC1	7545	broad.mit.edu	37	3	147128543	147128543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128543G>A	ENST00000282928.4	+	1	1373	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	215					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCTTCTTCCGCTACATGCGC	0.617																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(643-645)cGc>cAc		Zic family member 1							48.0	49.0	48.0					3																	147128543		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128543G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.644G>A	3.37:g.147128543G>A	ENSP00000282928:p.Arg215His						p.R215H	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1373	+			215					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.644G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585394	0.86748	.	.	ENSG00000152977	ENST00000282928	T	0.47869	0.83	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76870	-0.2799	10	0.87932	D	0	.	16.1009	0.81169	0.0:0.0:1.0:0.0	.	215	Q15915	ZIC1_HUMAN	H	215	ENSP00000282928:R215H	ENSP00000282928:R215H	R	+	2	0	ZIC1	148611233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.763000	0.85283	1.847000	0.53656	0.549000	0.68633	CGC		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		48	196	0	0	0	1	0	48	196				
OR13G1	441933	broad.mit.edu	37	1	247835916	247835916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835916C>T	ENST00000359688.2	-	1	449	c.428G>A	c.(427-429)aGc>aAc	p.S143N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGACCATGCTGAGCAAGGC	0.468																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(427-429)aGc>aAc		olfactory receptor, family 13, subfamily G, member 1							104.0	84.0	91.0					1																	247835916		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835916C>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.428G>A	1.37:g.247835916C>T	ENSP00000352717:p.Ser143Asn					RP11-634B7.4_ENST00000449298.1_RNA	p.S143N	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	449	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		143					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.428G>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990006	0.18966	.	.	ENSG00000197437	ENST00000359688	T	0.38240	1.15	4.2	-0.109	0.13584	GPCR, rhodopsin-like superfamily (1);	0.608395	0.14901	N	0.291811	T	0.31009	0.0783	M	0.64997	1.995	0.09310	N	1	B	0.17465	0.022	B	0.21546	0.035	T	0.34054	-0.9844	10	0.72032	D	0.01	-16.9307	4.4	0.11381	0.1502:0.3193:0.4407:0.0898	.	143	Q8NGZ3	O13G1_HUMAN	N	143	ENSP00000352717:S143N	ENSP00000352717:S143N	S	-	2	0	OR13G1	245902539	0.000000	0.05858	0.000000	0.03702	0.594000	0.36715	-0.641000	0.05434	-0.101000	0.12219	0.563000	0.77884	AGC		0.468	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		59	258	0	0	0	1	0	59	258				
EGFL7	51162	broad.mit.edu	37	9	139563096	139563096	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139563096C>T	ENST00000371699.1	+	4	1079	c.168C>T	c.(166-168)tgC>tgT	p.C56C	EGFL7_ENST00000406555.3_Silent_p.C56C|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Silent_p.C56C|EGFL7_ENST00000371698.3_Silent_p.C56C			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	56	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TCACCACCTGCGACGGGCACC	0.682																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(166-168)tgC>tgT		EGF-like-domain, multiple 7							74.0	71.0	72.0					9																	139563096		2202	4295	6497	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139563096C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.168C>T	9.37:g.139563096C>T						EGFL7_ENST00000308874.7_Silent_p.C56C|EGFL7_ENST00000371698.3_Silent_p.C56C|EGFL7_ENST00000406555.3_Silent_p.C56C|EGFL7_ENST00000492002.1_3'UTR	p.C56C			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	1079	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	56			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.168C>T	CCDS7002.1																																																																																				0.682	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		126	641	0	0	0	1	0	126	641				
PLXNB1	5364	broad.mit.edu	37	3	48451722	48451722	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48451722T>C	ENST00000358536.4	-	31	5857	c.5588A>G	c.(5587-5589)gAt>gGt	p.D1863G	PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1863					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGACATAATCCTGGTTTTC	0.632																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(5587-5589)gAt>gGt		plexin B1							107.0	98.0	101.0					3																	48451722		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48451722T>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5588A>G	3.37:g.48451722T>C	ENSP00000351338:p.Asp1863Gly					PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G	p.D1863G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	31	5857	-			1863					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.5588A>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824221	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	3.98	3.98	0.46160	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.056764	0.64402	U	0.000002	T	0.29914	0.0748	M	0.64997	1.995	0.80722	D	1	D;B	0.64830	0.994;0.222	D;B	0.69142	0.962;0.199	T	0.02214	-1.1194	10	0.27082	T	0.32	.	12.0712	0.53618	0.0:0.0:0.0:1.0	.	1863;1680	O43157;O43157-2	PLXB1_HUMAN;.	G	1863;1680;1863;474;1680	ENSP00000296440:D1863G;ENSP00000351242:D1680G;ENSP00000351338:D1863G;ENSP00000389320:D474G;ENSP00000414199:D1680G	ENSP00000296440:D1863G	D	-	2	0	PLXNB1	48426726	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.639000	0.83342	1.422000	0.47177	0.460000	0.39030	GAT		0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		28	118	0	0	0	1	0	28	118				
CT55	54967	broad.mit.edu	37	X	134305013	134305013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134305013C>T	ENST00000276241.6	-	1	309	c.83G>A	c.(82-84)gGc>gAc	p.G28D	CXorf48_ENST00000344129.2_Missense_Mutation_p.G28D	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		28										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTGGGAGGCCCTGCTGCTG	0.612																																						ENST00000344129.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(82-84)gGc>gAc		chromosome X open reading frame 48							104.0	90.0	95.0					X																	134305013		2203	4300	6503	SO:0001583	missense	54967							g.chrX:134305013C>T																												ENST00000276241.6:c.83G>A	X.37:g.134305013C>T	ENSP00000276241:p.Gly28Asp					CXorf48_ENST00000276241.6_Missense_Mutation_p.G28D	p.G28D	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN			1	309	-	Acute lymphoblastic leukemia(192;0.000127)		28					Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	c.83G>A	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.224414	0.01530	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.32023	1.47;1.47	2.25	-4.51	0.03483	.	.	.	.	.	T	0.20129	0.0484	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24119	-1.0169	9	0.20046	T	0.44	0.5962	10.7492	0.46198	0.0:0.1935:0.0:0.8065	.	28	Q8WUE5	CX048_HUMAN	D	28	ENSP00000276241:G28D;ENSP00000343893:G28D	ENSP00000276241:G28D	G	-	2	0	CXorf48	134132679	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.702000	0.05069	-2.067000	0.00885	-1.004000	0.02495	GGC		0.612	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			87	311	0	0	0	1	0	87	311				
RIPK4	54101	broad.mit.edu	37	21	43171324	43171324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43171324C>T	ENST00000352483.2	-	3	620	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	RIPK4_ENST00000332512.3_Missense_Mutation_p.A186T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGAGGTAGGCGATTGTGCCA	0.577																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(556-558)Gcc>Acc		receptor-interacting serine-threonine kinase 4							136.0	115.0	122.0					21																	43171324		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43171324C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.556G>A	21.37:g.43171324C>T	ENSP00000330161:p.Ala186Thr					RIPK4_ENST00000332512.3_Missense_Mutation_p.A186T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T	p.A186T			Q96T11	Q96T11_HUMAN			3	620	-			186					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.556G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.443555	0.83993	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.59	4.59	0.56863	.	0.000000	0.56097	D	0.000028	T	0.68384	0.2995	N	0.21508	0.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73839	-0.3856	10	0.72032	D	0.01	-31.4363	16.3904	0.83533	0.0:1.0:0.0:0.0	.	186	P57078-2	.	T	186;186;123;123	ENSP00000332454:A186T;ENSP00000330161:A186T;ENSP00000441754:A123T;ENSP00000442901:A123T	ENSP00000332454:A186T	A	-	1	0	RIPK4	42044393	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	5.766000	0.68843	2.088000	0.63022	0.561000	0.74099	GCC		0.577	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		57	277	0	0	0	1	0	57	277				
ENPP5	59084	broad.mit.edu	37	6	46129280	46129280	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46129280A>G	ENST00000371383.2	-	5	1477	c.1217T>C	c.(1216-1218)gTg>gCg	p.V406A	ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATAAGGGACCACCCTTGGCAT	0.468																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1216-1218)gTg>gCg		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							174.0	160.0	165.0					6																	46129280		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129280A>G	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1217T>C	6.37:g.46129280A>G	ENSP00000360436:p.Val406Ala					ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A	p.V406A			Q9UJA9	ENPP5_HUMAN			5	1477	-			406						Missense_Mutation	SNP	ENST00000371383.2	37	c.1217T>C	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.432032	0.00184	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73469	-0.75;-0.75	5.1	-2.1	0.07210	.	6.658910	0.00166	N	0.000000	T	0.15825	0.0381	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	10	0.10902	T	0.67	3.9963	6.3607	0.21427	0.3714:0.0:0.5109:0.1177	.	406	Q9UJA9	ENPP5_HUMAN	A	406	ENSP00000360436:V406A;ENSP00000230565:V406A	ENSP00000230565:V406A	V	-	2	0	ENPP5	46237239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.111000	0.10807	-0.369000	0.08028	-3.486000	0.00034	GTG		0.468	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			94	437	0	0	0	1	0	94	437				
RSPO1	284654	broad.mit.edu	37	1	38082189	38082189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082189C>T	ENST00000401069.1	-	4	965	c.253G>A	c.(253-255)Gac>Aac	p.D85N	RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000356545.2_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	85					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCGGGCGTCGAAGTATCCA	0.622																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(253-255)Gac>Aac		R-spondin 1							53.0	56.0	55.0					1																	38082189		2013	4170	6183	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082189C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.253G>A	1.37:g.38082189C>T	ENSP00000383847:p.Asp85Asn					RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401069.1_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N	p.D85N	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			5	1040	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	85					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.253G>A	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465498	0.96257	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.79	5.79	0.91817	Growth factor, receptor (1);	0.053446	0.85682	D	0.000000	T	0.77150	0.4088	N	0.21508	0.67	0.58432	D	0.99999	D;D;D	0.67145	0.996;0.975;0.957	P;P;B	0.52031	0.688;0.477;0.284	T	0.79916	-0.1601	10	0.72032	D	0.01	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	85;58;85	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	N	58;85;85;85;85;85	ENSP00000362150:D58N;ENSP00000383848:D85N;ENSP00000348944:D85N;ENSP00000383849:D85N;ENSP00000383847:D85N;ENSP00000383846:D85N	ENSP00000348944:D85N	D	-	1	0	RSPO1	37854776	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.609000	0.82925	2.753000	0.94483	0.555000	0.69702	GAC		0.622	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		66	277	0	0	0	1	0	66	277				
EDAR	10913	broad.mit.edu	37	2	109524431	109524431	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109524431C>A	ENST00000258443.2	-	10	1278	c.848G>T	c.(847-849)aGc>aTc	p.S283I	EDAR_ENST00000376651.1_Missense_Mutation_p.S315I|EDAR_ENST00000409271.1_Missense_Mutation_p.S315I	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	283					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACTGTCGACGCTCCGGCTCAG	0.632																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(943-945)aGc>aTc		ectodysplasin A receptor							37.0	39.0	38.0					2																	109524431		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109524431C>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.848G>T	2.37:g.109524431C>A	ENSP00000258443:p.Ser283Ile					EDAR_ENST00000258443.2_Missense_Mutation_p.S283I|EDAR_ENST00000376651.1_Missense_Mutation_p.S315I	p.S315I			Q9UNE0	EDAR_HUMAN			10	1387	-			283					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.944G>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641763	0.67244	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94650	-3.48;-3.29;-3.48	5.64	5.64	0.86602	.	0.114476	0.85682	D	0.000000	D	0.97185	0.9080	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	D	0.97461	1.0034	10	0.87932	D	0	-30.4742	19.7084	0.96083	0.0:1.0:0.0:0.0	.	315;283	E9PC98;Q9UNE0	.;EDAR_HUMAN	I	315;283;315	ENSP00000386371:S315I;ENSP00000258443:S283I;ENSP00000365839:S315I	ENSP00000258443:S283I	S	-	2	0	EDAR	108890863	1.000000	0.71417	0.960000	0.40013	0.152000	0.21847	7.209000	0.77916	2.648000	0.89879	0.561000	0.74099	AGC		0.632	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			81	188	1	0	3.1711e-36	1	3.79393e-36	81	188				
H2AFZ	3015	broad.mit.edu	37	4	100870869	100870869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870869C>T	ENST00000296417.5	-	2	249	c.32G>A	c.(31-33)gGa>gAa	p.G11E	DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	11	Required for interaction with INCENP. {ECO:0000250}.				cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTGGCCTTTCCGGAGTCCTT	0.587																																						ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(31-33)gGa>gAa		H2A histone family, member Z							71.0	80.0	77.0					4																	100870869		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870869C>T	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.32G>A	4.37:g.100870869C>T	ENSP00000296417:p.Gly11Glu					H2AFZ_ENST00000529158.1_5'UTR	p.G11E	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	2	249	-			11			Required for interaction with INCENP (By similarity).		B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.32G>A	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408380	0.62399	.	.	ENSG00000164032	ENST00000296417	D	0.84730	-1.89	3.09	1.24	0.21308	Histone-fold (2);Histone H2A (1);	0.051378	0.85682	D	0.000000	D	0.83298	0.5224	M	0.83012	2.62	0.54753	D	0.999985	B	0.17038	0.02	B	0.04013	0.001	T	0.79303	-0.1859	10	0.59425	D	0.04	-3.6892	8.7116	0.34387	0.0:0.8018:0.0:0.1982	.	11	P0C0S5	H2AZ_HUMAN	E	11	ENSP00000296417:G11E	ENSP00000296417:G11E	G	-	2	0	H2AFZ	101089892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.959000	0.63666	0.507000	0.28148	0.455000	0.32223	GGA		0.587	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		107	531	0	0	0	1	0	107	531				
MYBL2	4605	broad.mit.edu	37	20	42328479	42328479	+	Missense_Mutation	SNP	C	C	T	rs142211101	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42328479C>T	ENST00000217026.4	+	7	873	c.746C>T	c.(745-747)aCc>aTc	p.T249I	MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	249					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCAGCAGCCACCACATCGAAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		20315	0.002		0.0	False		,,,				2504	0.0					ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(745-747)aCc>aTc		v-myb avian myeloblastosis viral oncogene homolog-like 2							81.0	68.0	72.0					20																	42328479		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42328479C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.746C>T	20.37:g.42328479C>T	ENSP00000217026:p.Thr249Ile					MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	p.T249I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	873	+		Myeloproliferative disorder(115;0.00452)	249					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.746C>T	CCDS13322.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	11.82	1.751527	0.31046	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.46	4.77	4.77	0.60923	.	1.690320	0.02888	N	0.133759	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	B;B	0.34103	0.135;0.437	B;B	0.27500	0.071;0.08	T	0.24548	-1.0157	10	0.36615	T	0.2	-3.3195	14.0289	0.64604	0.0:1.0:0.0:0.0	.	225;249	F8W6N6;P10244	.;MYBB_HUMAN	I	225;249	ENSP00000380072:T225I;ENSP00000217026:T249I	ENSP00000217026:T249I	T	+	2	0	MYBL2	41761893	0.002000	0.14202	0.006000	0.13384	0.046000	0.14306	0.854000	0.27791	2.575000	0.86900	0.650000	0.86243	ACC		0.552	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		8	177	0	0	0	1	0	8	177				
UVRAG	7405	broad.mit.edu	37	11	75599929	75599929	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75599929T>C	ENST00000356136.3	+	5	730	c.489T>C	c.(487-489)ggT>ggC	p.G163G	UVRAG_ENST00000528420.1_Silent_p.G62G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	163					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATACTATGGTGCTCCATTTG	0.353																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(487-489)ggT>ggC		UV radiation resistance associated							96.0	91.0	92.0					11																	75599929		2200	4293	6493	SO:0001819	synonymous_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75599929T>C	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.489T>C	11.37:g.75599929T>C						UVRAG_ENST00000528420.1_Silent_p.G62G	p.G163G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			5	730	+			163					B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	c.489T>C	CCDS8241.1																																																																																				0.353	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		32	127	0	0	0	1	0	32	127				
DNAH6	1768	broad.mit.edu	37	2	84777068	84777068	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84777068A>C	ENST00000237449.6	+	8	1380	c.1372A>C	c.(1372-1374)Aat>Cat	p.N458H	DNAH6_ENST00000398278.2_Missense_Mutation_p.N458H|DNAH6_ENST00000389394.3_Missense_Mutation_p.N458H			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	458	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTAACGGTAAATGCTGTTAA	0.343																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1372-1374)Aat>Cat		dynein, axonemal, heavy chain 6							97.0	88.0	91.0					2																	84777068		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84777068A>C	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1372A>C	2.37:g.84777068A>C	ENSP00000237449:p.Asn458His					DNAH6_ENST00000398278.2_Missense_Mutation_p.N458H|DNAH6_ENST00000237449.6_Missense_Mutation_p.N458H	p.N458H	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			9	1509	+			458			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1372A>C	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426379	0.43020	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26067	1.76;1.88;1.76	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000011	T	0.49218	0.1544	M	0.69823	2.125	0.38970	D	0.958727	B;D	0.71674	0.109;0.998	B;D	0.65443	0.062;0.935	T	0.51036	-0.8756	10	0.46703	T	0.11	.	15.5246	0.75894	1.0:0.0:0.0:0.0	.	458;37	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	H	458	ENSP00000374045:N458H;ENSP00000381326:N458H;ENSP00000237449:N458H	ENSP00000237449:N458H	N	+	1	0	DNAH6	84630579	1.000000	0.71417	0.757000	0.31301	0.065000	0.16274	6.682000	0.74528	2.304000	0.77564	0.528000	0.53228	AAT		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		52	214	0	0	0	1	0	52	214				
PIM3	415116	broad.mit.edu	37	22	50356512	50356512	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50356512A>G	ENST00000360612.4	+	5	1227	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTCTCTCCAGGTGCGTGGT	0.677																																						ENST00000360612.4																			0											c.e5+1		pim-3 oncogene							37.0	39.0	38.0					22																	50356512		2203	4300	6503	SO:0001630	splice_region_variant	415116				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:50356512A>G	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.793+1A>G	22.37:g.50356512A>G							p.P264_splice	NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)	5	1227	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	264			Protein kinase.		A5D8X8|A8K7J0|B1B0P0|Q68BM2	Splice_Site	SNP	ENST00000360612.4	37	c.793_splice	CCDS33678.1																																																																																				0.677	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	NM_001001852	Silent	13	299	0	0	0	1	0	13	299				
CCDC180	100499483	broad.mit.edu	37	9	100074478	100074478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100074478C>T	ENST00000357054.1	+	18	1828	c.893C>T	c.(892-894)aCt>aTt	p.T298I	CCDC180_ENST00000411667.2_Missense_Mutation_p.T159I|CCDC180_ENST00000529487.1_Missense_Mutation_p.T159I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.T159I|CCDC180_ENST00000395220.1_Missense_Mutation_p.T298I|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	298						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTCATGGATACTATAGGTGAG	0.577																																						ENST00000375202.2																			0											c.(475-477)aCt>aTt		coiled-coil domain containing 180							83.0	84.0	84.0					9																	100074478		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100074478C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.893C>T	9.37:g.100074478C>T	ENSP00000349562:p.Thr298Ile					CCDC180_ENST00000395220.1_Missense_Mutation_p.T298I|CCDC180_ENST00000411667.2_Missense_Mutation_p.T159I|CCDC180_ENST00000357054.1_Missense_Mutation_p.T298I|CCDC180_ENST00000529487.1_Missense_Mutation_p.T159I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR	p.T159I							18	1828	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.476C>T		.	.	.	.	.	.	.	.	.	.	C	0.591	-0.832948	0.02713	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.17528	3.14;2.27;3.14;2.78;3.14	4.92	-3.33	0.04958	.	0.762218	0.12312	N	0.480121	T	0.06690	0.0171	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.21606	0.058;0.017;0.017;0.017	B;B;B;B	0.16289	0.015;0.007;0.012;0.012	T	0.35624	-0.9781	10	0.20519	T	0.43	0.1475	0.932	0.01337	0.3621:0.2177:0.251:0.1692	.	159;298;159;298	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	I	298;298;159;159;182;159	ENSP00000349562:T298I;ENSP00000378646:T298I;ENSP00000364348:T159I;ENSP00000414000:T159I;ENSP00000434727:T159I	ENSP00000349562:T298I	T	+	2	0	C9orf174	99114299	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.527000	0.06200	-0.380000	0.07894	-0.140000	0.14226	ACT		0.577	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		72	312	0	0	0	1	0	72	312				
RPS6KB2	6199	broad.mit.edu	37	11	67200475	67200475	+	Silent	SNP	C	C	T	rs377739693		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67200475C>T	ENST00000312629.5	+	8	714	c.669C>T	c.(667-669)ggC>ggT	p.G223G	RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCATGAGGGCGCCGTCACTC	0.627																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(667-669)ggC>ggT		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C		1,4107		0,1,2053	40.0	46.0	44.0		669	-5.4	0.1	11		44	1,8403		0,1,4201	no	coding-synonymous	RPS6KB2	NM_003952.2		0,2,6254	TT,TC,CC		0.0119,0.0243,0.016		223/483	67200475	2,12510	2054	4202	6256	SO:0001819	synonymous_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67200475C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.669C>T	11.37:g.67200475C>T						RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	p.G223G	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		8	714	+			223			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	c.669C>T	CCDS41677.1																																																																																				0.627	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		33	203	0	0	0	1	0	33	203				
BRD1	23774	broad.mit.edu	37	22	50187865	50187865	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50187865C>T	ENST00000216267.8	-	6	2662	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000404034.1_Missense_Mutation_p.D726N|BRD1_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	726					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGTGAGGTCGAGCATGTCC	0.592																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2176-2178)Gac>Aac		bromodomain containing 1							64.0	67.0	66.0					22																	50187865		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50187865C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2176G>A	22.37:g.50187865C>T	ENSP00000216267:p.Asp726Asn					BRD1_ENST00000404034.1_Missense_Mutation_p.D726N|BRD1_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N	p.D726N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	6	2662	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	726					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2176G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792126	0.90453	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.30981	2.38;2.38;2.18;1.95;1.51;1.6	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.988;0.999	T	0.65578	-0.6134	10	0.49607	T	0.09	.	19.1727	0.93585	0.0:1.0:0.0:0.0	.	726;321;726;726	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	N	726;726;726;726;414;321;186	ENSP00000216267:D726N;ENSP00000384076:D726N;ENSP00000385858:D726N;ENSP00000410042:D726N;ENSP00000437514:D414N;ENSP00000345886:D321N	ENSP00000216267:D726N	D	-	1	0	BRD1	48573869	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.591000	0.82666	2.524000	0.85096	0.655000	0.94253	GAC		0.592	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		71	353	0	0	0	1	0	71	353				
PLXNA1	5361	broad.mit.edu	37	3	126733350	126733350	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126733350C>T	ENST00000393409.2	+	12	2634	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PLXNA1_ENST00000251772.4_Silent_p.G855G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	878	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGAGGCAGGGCGGCACGCGGC	0.697																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2563-2565)ggC>ggT		plexin A1							38.0	43.0	42.0					3																	126733350		2202	4299	6501	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733350C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2634C>T	3.37:g.126733350C>T						PLXNA1_ENST00000393409.2_Silent_p.G878G	p.G855G			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	12	2634	+			878						Silent	SNP	ENST00000393409.2	37	c.2565C>T	CCDS33847.2																																																																																				0.697	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		46	172	0	0	0	1	0	46	172				
APC	324	broad.mit.edu	37	5	112128185	112128185	+	Missense_Mutation	SNP	C	C	T	rs587779805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112128185C>T	ENST00000457016.1	+	7	1068	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	APC_ENST00000257430.4_Missense_Mutation_p.R230C|APC_ENST00000508376.2_Missense_Mutation_p.R230C			P25054	APC_HUMAN	adenomatous polyposis coli	230	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGACATACTTCGTATACGACA	0.308		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(688-690)Cgt>Tgt		adenomatous polyposis coli							80.0	76.0	78.0					5																	112128185		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112128185C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.688C>T	5.37:g.112128185C>T	ENSP00000413133:p.Arg230Cys	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.R230C|APC_ENST00000508376.2_Missense_Mutation_p.R230C	p.R230C			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	7	1068	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	230			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.688C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943797	0.73672	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.19	4.31	0.51392	.	0.107791	0.64402	D	0.000016	D	0.94023	0.8085	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.70716	0.97	D	0.94601	0.7796	10	0.87932	D	0	-13.2275	15.4696	0.75432	0.1399:0.8601:0.0:0.0	.	230	P25054	APC_HUMAN	C	230	ENSP00000413133:R230C;ENSP00000257430:R230C;ENSP00000427089:R230C;ENSP00000423828:R230C	ENSP00000257430:R230C	R	+	1	0	APC	112156084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.859000	0.55987	1.296000	0.44742	-0.175000	0.13238	CGT		0.308	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		57	237	0	0	0	1	0	57	237				
HMHA1	23526	broad.mit.edu	37	19	1073559	1073559	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073559T>C	ENST00000313093.2	+	4	851	c.620T>C	c.(619-621)cTg>cCg	p.L207P	HMHA1_ENST00000539243.2_Missense_Mutation_p.L223P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P|HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|HMHA1_ENST00000590214.1_Missense_Mutation_p.L234P|HMHA1_ENST00000543365.1_Missense_Mutation_p.L90P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	207					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGGCCCTGGAGACGATT	0.602																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(619-621)cTg>cCg		histocompatibility (minor) HA-1							60.0	53.0	56.0					19																	1073559		2202	4300	6502	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073559T>C	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.620T>C	19.37:g.1073559T>C	ENSP00000316772:p.Leu207Pro					HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|HMHA1_ENST00000539243.2_Missense_Mutation_p.L223P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P|HMHA1_ENST00000543365.1_Missense_Mutation_p.L90P|HMHA1_ENST00000590214.1_Missense_Mutation_p.L234P	p.L207P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	851	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	207					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.620T>C	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372450	0.61624	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.25414	1.8;1.84;1.88;1.8	4.24	4.24	0.50183	.	0.095832	0.46145	D	0.000309	T	0.47948	0.1473	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.996	D;D;D;P	0.73708	0.981;0.914;0.974;0.823	T	0.51647	-0.8679	10	0.87932	D	0	-19.7701	12.1537	0.54064	0.0:0.0:0.0:1.0	.	47;223;90;207	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	P	223;207;207;47;201;90	ENSP00000439601:L223P;ENSP00000316772:L207P;ENSP00000445109:L47P;ENSP00000438979:L90P	ENSP00000316772:L207P	L	+	2	0	HMHA1	1024559	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.423000	0.80229	1.540000	0.49301	0.402000	0.26972	CTG		0.602	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			5	185	0	0	0	1	0	5	185				
ANKIB1	54467	broad.mit.edu	37	7	92027712	92027712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027712C>T	ENST00000265742.3	+	20	3095	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	907							zinc ion binding (GO:0008270)	p.R907W(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATAGCCCTCGGGCTGCATT	0.493																																						ENST00000265742.3																			1	Substitution - Missense(1)	p.R907W(1)	endometrium(1)	cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2719-2721)Cgg>Tgg		ankyrin repeat and IBR domain containing 1							59.0	57.0	58.0					7																	92027712		1883	4128	6011	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027712C>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2719C>T	7.37:g.92027712C>T	ENSP00000265742:p.Arg907Trp						p.R907W	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3095	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		907					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2719C>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363394	0.61513	.	.	ENSG00000001629	ENST00000265742	T	0.14266	2.52	5.87	2.99	0.34606	.	0.160491	0.53938	D	0.000048	T	0.22627	0.0546	L	0.34521	1.04	0.48185	D	0.999608	D;D	0.89917	1.0;0.984	D;P	0.66602	0.945;0.482	T	0.00581	-1.1660	10	0.87932	D	0	.	10.8133	0.46559	0.5232:0.3716:0.1052:0.0	.	259;907	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	W	907	ENSP00000265742:R907W	ENSP00000265742:R907W	R	+	1	2	ANKIB1	91865648	1.000000	0.71417	0.875000	0.34327	0.979000	0.70002	1.756000	0.38390	0.425000	0.26087	-0.181000	0.13052	CGG		0.493	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			25	104	0	0	0	1	0	25	104				
CCDC64	92558	broad.mit.edu	37	12	120436420	120436420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120436420G>A	ENST00000397558.2	+	2	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	175					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGATGTGAAGCAGCTACAGG	0.517																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(523-525)aaG>aaA		coiled-coil domain containing 64							78.0	85.0	83.0					12																	120436420		2036	4193	6229	SO:0001819	synonymous_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120436420G>A	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.525G>A	12.37:g.120436420G>A							p.K175K	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			2	525	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		175					A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	c.525G>A	CCDS41845.1																																																																																				0.517	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		63	259	0	0	0	1	0	63	259				
CYP3A43	64816	broad.mit.edu	37	7	99454485	99454485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99454485C>T	ENST00000354829.2	+	9	931	c.828C>T	c.(826-828)atC>atT	p.I276I	CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Silent_p.I276I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	276			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	AACAGATGATCGACTCCCAGA	0.433																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(826-828)atC>atT		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						94.0	101.0	99.0					7																	99454485		2203	4300	6503	SO:0001819	synonymous_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99454485C>T	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.828C>T	7.37:g.99454485C>T						CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000222382.5_Silent_p.I276I	p.I276I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			9	931	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		276		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	c.828C>T	CCDS5676.1																																																																																				0.433	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			99	419	0	0	0	1	0	99	419				
DCHS2	54798	broad.mit.edu	37	4	155156624	155156624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156624G>A	ENST00000357232.4	-	25	7814	c.7815C>T	c.(7813-7815)aaC>aaT	p.N2605N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2605					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGACCACCTCGTTACTGCAGT	0.473																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7813-7815)aaC>aaT		dachsous cadherin-related 2							124.0	125.0	125.0					4																	155156624		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156624G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7815C>T	4.37:g.155156624G>A							p.N2605N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7814	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2605					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.7815C>T	CCDS3785.1																																																																																				0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		98	477	0	0	0	1	0	98	477				
NADSYN1	55191	broad.mit.edu	37	11	71183521	71183521	+	Missense_Mutation	SNP	G	G	A	rs141650373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183521G>A	ENST00000319023.2	+	6	622	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	145	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTTCTGCCTCGGATGATACAG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.001				Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(433-435)cGg>cAg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	104.0	92.0	96.0		434	4.3	1.0	11	dbSNP_134	96	0,8588		0,0,4294	no	missense	NADSYN1	NM_018161.4	43	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	145/707	71183521	2,12986	2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71183521G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.434G>A	11.37:g.71183521G>A	ENSP00000326424:p.Arg145Gln						p.R145Q	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			6	622	+			145			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.434G>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296227	0.40594	4.55E-4	0.0	ENSG00000172890	ENST00000319023	D	0.87412	-2.25	4.26	4.26	0.50523	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	M	0.70787	2.145	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	D	0.87925	0.2706	10	0.23302	T	0.38	-32.6813	12.0571	0.53542	0.0:0.0:1.0:0.0	.	145	Q6IA69	NADE_HUMAN	Q	145	ENSP00000326424:R145Q	ENSP00000326424:R145Q	R	+	2	0	NADSYN1	70861169	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	5.044000	0.64214	2.214000	0.71695	0.561000	0.74099	CGG		0.547	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		28	179	0	0	0	1	0	28	179				
ABCA13	154664	broad.mit.edu	37	7	48313692	48313692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48313692G>A	ENST00000435803.1	+	17	4453	c.4429G>A	c.(4429-4431)Gtc>Atc	p.V1477I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1477					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTTACTACAGTCTTTGAAAA	0.279																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(4429-4431)Gtc>Atc		ATP-binding cassette, sub-family A (ABC1), member 13							24.0	25.0	24.0					7																	48313692		1799	4036	5835	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313692G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4429G>A	7.37:g.48313692G>A	ENSP00000411096:p.Val1477Ile						p.V1477I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4453	+			1477					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4429G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	3.931	-0.016142	0.07681	.	.	ENSG00000179869	ENST00000435803	D	0.86230	-2.09	5.44	0.957	0.19613	.	0.864468	0.09652	N	0.773524	T	0.74619	0.3740	L	0.31294	0.92	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.57359	-0.7825	9	.	.	.	.	0.6646	0.00848	0.2633:0.1254:0.3668:0.2445	.	1477	Q86UQ4	ABCAD_HUMAN	I	1477	ENSP00000411096:V1477I	.	V	+	1	0	ABCA13	48284238	0.092000	0.21681	0.047000	0.18901	0.509000	0.34042	0.727000	0.25999	0.369000	0.24510	-0.251000	0.11542	GTC		0.279	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		12	66	0	0	0	1	0	12	66				
RPS6KA2	6196	broad.mit.edu	37	6	166864717	166864717	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166864717A>C	ENST00000265678.4	-	13	1303	c.1080T>G	c.(1078-1080)tcT>tcG	p.S360S	RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000503859.1_Silent_p.S368S|RPS6KA2_ENST00000481261.2_Silent_p.S271S|RPS6KA2_ENST00000510118.1_Silent_p.S385S	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	360	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGACGCCAGGAGAGTCTGTAG	0.552																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1153-1155)tcT>tcG		ribosomal protein S6 kinase, 90kDa, polypeptide 2							103.0	102.0	103.0					6																	166864717		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166864717A>C	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1080T>G	6.37:g.166864717A>C						RPS6KA2_ENST00000265678.4_Silent_p.S360S|RPS6KA2_ENST00000503859.1_Silent_p.S368S|RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000481261.2_Silent_p.S271S	p.S385S			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	15	1495	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	360			AGC-kinase C-terminal.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.1155T>G	CCDS5294.1																																																																																				0.552	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		87	424	0	0	0	1	0	87	424				
CPOX	1371	broad.mit.edu	37	3	98307569	98307569	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98307569T>G	ENST00000264193.2	-	4	1159	c.941A>C	c.(940-942)aAa>aCa	p.K314T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	314					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTTTTTAAATTTGGGGTAGAG	0.403																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(940-942)aAa>aCa		coproporphyrinogen oxidase							99.0	101.0	100.0					3																	98307569		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98307569T>G	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.941A>C	3.37:g.98307569T>G	ENSP00000264193:p.Lys314Thr						p.K314T	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			4	1159	-			314					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.941A>C	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121857	0.56613	.	.	ENSG00000080819	ENST00000264193	D	0.93953	-3.32	5.74	4.59	0.56863	.	0.090735	0.85682	D	0.000000	D	0.92130	0.7505	L	0.58354	1.805	0.47737	D	0.999503	P	0.36874	0.572	B	0.42361	0.385	D	0.90848	0.4729	10	0.59425	D	0.04	-16.4938	10.0387	0.42144	0.0:0.0795:0.0:0.9205	.	314	P36551	HEM6_HUMAN	T	314	ENSP00000264193:K314T	ENSP00000264193:K314T	K	-	2	0	CPOX	99790259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.919000	0.56439	1.121000	0.41925	0.460000	0.39030	AAA		0.403	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		13	351	0	0	0	1	0	13	351				
TAAR8	83551	broad.mit.edu	37	6	132874819	132874819	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132874819T>A	ENST00000275200.1	+	1	988	c.988T>A	c.(988-990)Tta>Ata	p.L330I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	330					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGGAGATGTTTTAAAGGCTAG	0.264																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(988-990)Tta>Ata		trace amine associated receptor 8							49.0	52.0	51.0					6																	132874819		2202	4300	6502	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874819T>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.988T>A	6.37:g.132874819T>A	ENSP00000275200:p.Leu330Ile						p.L330I	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	988	+	Breast(56;0.112)		330					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.988T>A	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	T	9.335	1.061570	0.19987	.	.	ENSG00000146385	ENST00000275200	T	0.70045	-0.45	4.3	1.76	0.24704	.	0.460485	0.17385	N	0.176156	T	0.60431	0.2268	M	0.79805	2.47	0.19945	N	0.999946	P	0.44521	0.837	P	0.49597	0.616	T	0.56251	-0.8010	10	0.66056	D	0.02	-0.0166	8.9788	0.35953	0.0:0.1568:0.0:0.8432	.	330	Q969N4	TAAR8_HUMAN	I	330	ENSP00000275200:L330I	ENSP00000275200:L330I	L	+	1	2	TAAR8	132916512	0.022000	0.18835	0.003000	0.11579	0.151000	0.21798	0.819000	0.27308	0.254000	0.21573	0.459000	0.35465	TTA		0.264	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		71	319	0	0	0	1	0	71	319				
WARS	7453	broad.mit.edu	37	14	100828156	100828156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100828156C>A	ENST00000355338.2	-	3	820	c.202G>T	c.(202-204)Gca>Tca	p.A68S	WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000557135.1_Missense_Mutation_p.A68S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.A27S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	68					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTGGTAGGTGCTGGGTTCCCT	0.483																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(202-204)Gca>Tca		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						223.0	210.0	214.0					14																	100828156		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100828156C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.202G>T	14.37:g.100828156C>A	ENSP00000347495:p.Ala68Ser					WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.A68S|WARS_ENST00000344102.5_Missense_Mutation_p.A27S|WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S	p.A68S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			3	820	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	68					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.202G>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483647	0.26598	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545;ENST00000554820;ENST00000554509;ENST00000556209;ENST00000554605	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.13;0.96;1.13;0.96;1.13;0.96;0.92;0.92;1.13;0.96;0.96;0.96;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.67	-1.88	0.07713	WHEP-TRS (1);	0.826647	0.11454	N	0.562476	T	0.21062	0.0507	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.29366	-1.0014	10	0.06891	T	0.86	-1.0898	2.7529	0.05286	0.109:0.4165:0.1068:0.3677	.	68	P23381	SYWC_HUMAN	S	68;27;68;27;68;27;27;27;68;27;27;27;68;68;102;68;68;68;68;68;68;102;68;68	ENSP00000376620:A68S;ENSP00000351481:A27S;ENSP00000347495:A68S;ENSP00000339485:A27S;ENSP00000451460:A68S;ENSP00000451887:A27S;ENSP00000451490:A27S;ENSP00000451251:A27S;ENSP00000450500:A68S;ENSP00000451599:A27S;ENSP00000452519:A27S;ENSP00000451544:A27S;ENSP00000450427:A68S;ENSP00000451349:A68S;ENSP00000450934:A102S;ENSP00000451469:A68S;ENSP00000451402:A68S;ENSP00000452550:A68S;ENSP00000451906:A68S;ENSP00000451716:A68S;ENSP00000450563:A68S;ENSP00000451894:A102S;ENSP00000451027:A68S;ENSP00000450978:A68S	ENSP00000339485:A27S	A	-	1	0	WARS	99897909	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.126000	0.10563	-0.164000	0.10927	-0.140000	0.14226	GCA		0.483	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		88	384	1	0	4.92795e-40	1	5.96786e-40	88	384				
PEG3	5178	broad.mit.edu	37	19	57325143	57325143	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57325143G>T	ENST00000326441.9	-	10	5030	c.4667C>A	c.(4666-4668)gCc>gAc	p.A1556D	PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1556					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCTTGATTGGCACCACCTGT	0.527																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(4666-4668)gCc>gAc		paternally expressed 3							137.0	117.0	124.0					19																	57325143		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325143G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4667C>A	19.37:g.57325143G>T	ENSP00000326581:p.Ala1556Asp					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D|PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|ZIM2_ENST00000599935.1_Intron	p.A1556D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	5030	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1556					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4667C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746288	0.30955	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02837	4.14;4.14	4.09	-0.906	0.10524	.	1.506540	0.04129	N	0.317640	T	0.02533	0.0077	N	0.19112	0.55	.	.	.	B;B;B	0.26002	0.139;0.139;0.139	B;B;B	0.25140	0.058;0.058;0.058	T	0.46162	-0.9211	9	0.59425	D	0.04	-1.6917	5.2732	0.15636	0.0:0.2984:0.2608:0.4407	.	1432;1556;1491	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1556	ENSP00000326581:A1556D;ENSP00000403051:A1556D	ENSP00000326581:A1556D	A	-	2	0	ZIM2	62016955	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-0.421000	0.07053	-0.052000	0.13311	0.591000	0.81541	GCC		0.527	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			60	326	1	0	3.89483e-19	1	4.33865e-19	60	326				
ST3GAL1	6482	broad.mit.edu	37	8	134477178	134477178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134477178C>A	ENST00000319914.5	-	6	1553	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	176					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCTTCAAACCCTGCCGTGGGC	0.577																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(526-528)Ggg>Tgg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							140.0	131.0	134.0					8																	134477178		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134477178C>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.526G>T	8.37:g.134477178C>A	ENSP00000318445:p.Gly176Trp					ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W	p.G176W			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		6	1553	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		176					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.526G>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956753	0.73902	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	4.84	4.84	0.62591	.	0.049817	0.85682	D	0.000000	T	0.66458	0.2791	M	0.90922	3.16	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.74553	-0.3627	10	0.87932	D	0	-10.1328	12.7902	0.57528	0.0:0.8355:0.1645:0.0	.	176	Q11201	SIA4A_HUMAN	W	176;176;176;176;46;46	ENSP00000318445:G176W;ENSP00000414073:G176W;ENSP00000428540:G176W;ENSP00000430515:G176W;ENSP00000429638:G46W;ENSP00000427720:G46W	ENSP00000318445:G176W	G	-	1	0	ST3GAL1	134546360	1.000000	0.71417	0.738000	0.30950	0.864000	0.49448	5.833000	0.69349	2.235000	0.73313	0.511000	0.50034	GGG		0.577	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		153	717	1	0	1.23367e-73	1	1.57067e-73	153	717				
DIAPH3	81624	broad.mit.edu	37	13	60348321	60348321	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60348321A>C	ENST00000400324.4	-	27	3540		c.e27+1		DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Splice_Site|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000400330.1_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000400320.1_Splice_Site	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3						actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACGGTTTATTACCATGGTTAC	0.313																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e27+1		diaphanous-related formin 3							73.0	73.0	73.0					13																	60348321		1816	4082	5898	SO:0001630	splice_region_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60348321A>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3319+1T>G	13.37:g.60348321A>C						DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Splice_Site|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000400319.1_Splice_Site		NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	27	3540	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)						A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Splice_Site	SNP	ENST00000400324.4	37		CCDS41898.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.855191	0.71719	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7538	0.78009	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH3	59246322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.137000	0.66172	0.533000	0.62120	.		0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	Intron	34	239	0	0	0	1	0	34	239				
HIVEP3	59269	broad.mit.edu	37	1	42045931	42045931	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42045931G>T	ENST00000372583.1	-	4	5423	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1513H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGAGGGGAGGAATTTCCTT	0.557																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4537-4539)cCt>cAt		human immunodeficiency virus type I enhancer binding protein 3							88.0	99.0	95.0					1																	42045931		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045931G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4538C>A	1.37:g.42045931G>T	ENSP00000361664:p.Pro1513His					HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513H	p.P1513H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5552	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1513					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4538C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143199	0.01728	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	5.37	3.5	0.40072	.	0.685951	0.13398	N	0.390834	T	0.08133	0.0203	L	0.47716	1.5	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.29243	-1.0018	10	0.56958	D	0.05	-4.7047	4.9459	0.13989	0.0727:0.1269:0.5488:0.2516	.	1513;1513	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	1513	ENSP00000361665:P1513H;ENSP00000361664:P1513H;ENSP00000247584:P1513H;ENSP00000410828:P1513H	ENSP00000247584:P1513H	P	-	2	0	HIVEP3	41818518	0.993000	0.37304	0.007000	0.13788	0.263000	0.26337	1.773000	0.38563	0.830000	0.34757	-0.137000	0.14449	CCT		0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		65	205	1	0	8.4772e-36	1	1.0133e-35	65	205				
CACYBP	27101	broad.mit.edu	37	1	174979110	174979110	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174979110T>C	ENST00000367679.2	+	6	1030	c.582T>C	c.(580-582)gtT>gtC	p.V194V	CACYBP_ENST00000405362.1_Silent_p.V151V|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000367681.2_Silent_p.V151V	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	194	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATGAATGTTCTAAAGAAAA	0.403																																						ENST00000367681.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(451-453)gtT>gtC		calcyclin binding protein							71.0	72.0	72.0					1																	174979110		2203	4300	6503	SO:0001819	synonymous_variant	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174979110T>C	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.582T>C	1.37:g.174979110T>C						CACYBP_ENST00000367679.2_Silent_p.V194V|CACYBP_ENST00000405362.1_Silent_p.V151V	p.V151V	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			6	1093	+			194			CS.|Interaction with SKP1.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	ENST00000367679.2	37	c.453T>C	CCDS1315.1																																																																																				0.403	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		95	236	0	0	0	1	0	95	236				
MYO7B	4648	broad.mit.edu	37	2	128366289	128366289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128366289C>T	ENST00000409816.2	+	21	2682	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	MYO7B_ENST00000389524.4_Silent_p.L884L|MYO7B_ENST00000428314.1_Silent_p.L884L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	884	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAGGCGCCGCTGGTCATCCC	0.657																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2650-2652)Ctg>Ttg		myosin VIIB							24.0	27.0	26.0					2																	128366289		2005	4153	6158	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128366289C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2650C>T	2.37:g.128366289C>T						MYO7B_ENST00000428314.1_Silent_p.L884L|MYO7B_ENST00000409816.2_Silent_p.L884L	p.L884L			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	22	2703	+	Colorectal(110;0.1)		884			IQ 6.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2650C>T	CCDS46405.1																																																																																				0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		37	121	0	0	0	1	0	37	121				
C7orf33	202865	broad.mit.edu	37	7	148311388	148311388	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148311388C>T	ENST00000307003.2	+	2	820	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	153										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATACCTAAACGTAAGCTCCG	0.458																																						ENST00000307003.2																			0				central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.e2+1		chromosome 7 open reading frame 33							118.0	98.0	105.0					7																	148311388		2203	4300	6503	SO:0001630	splice_region_variant	202865							g.chr7:148311388C>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.459+1C>T	7.37:g.148311388C>T							p.N153_splice	NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	820	+	Melanoma(164;0.15)		153						Splice_Site	SNP	ENST00000307003.2	37	c.459_splice	CCDS5890.1																																																																																				0.458	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304	Silent	30	350	0	0	0	1	0	30	350				
GZMK	3003	broad.mit.edu	37	5	54327211	54327211	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54327211T>G	ENST00000231009.2	+	4	453	c.383T>G	c.(382-384)cTc>cGc	p.L128R	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	128	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GCCGCAAAACTCAATAAACAT	0.438																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(382-384)cTc>cGc		granzyme K (granzyme 3; tryptase II)							76.0	80.0	79.0					5																	54327211		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54327211T>G	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.383T>G	5.37:g.54327211T>G	ENSP00000231009:p.Leu128Arg					CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	p.L128R	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			4	453	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	128			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.383T>G	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789054	0.31685	.	.	ENSG00000113088	ENST00000231009	D	0.90133	-2.62	4.78	4.78	0.61160	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.382752	0.24492	N	0.038041	D	0.93449	0.7910	M	0.77313	2.365	0.35020	D	0.75771	P	0.35124	0.485	P	0.48840	0.592	D	0.97186	0.9854	10	0.87932	D	0	.	13.4165	0.60972	0.0:0.0:0.0:1.0	.	128	P49863	GRAK_HUMAN	R	128	ENSP00000231009:L128R	ENSP00000231009:L128R	L	+	2	0	GZMK	54362968	0.010000	0.17322	0.095000	0.20976	0.263000	0.26337	0.943000	0.29030	2.011000	0.59026	0.533000	0.62120	CTC		0.438	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		76	359	0	0	0	1	0	76	359				
PLA2G2E	30814	broad.mit.edu	37	1	20248849	20248849	+	Silent	SNP	G	G	T	rs370199149		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20248849G>T	ENST00000375116.3	-	3	285	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	76					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	TGGGCTCACAGCCCAGCTTCT	0.587																																						ENST00000375116.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(226-228)ggC>ggA		phospholipase A2, group IIE							57.0	57.0	57.0					1																	20248849		2203	4300	6503	SO:0001819	synonymous_variant	30814				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20248849G>T	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.228C>A	1.37:g.20248849G>T							p.G76G	NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	285	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	76					Q5VXJ8	Silent	SNP	ENST00000375116.3	37	c.228C>A	CCDS200.1																																																																																				0.587	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1	NM_014589		16	164	1	0	3.51602e-12	1	3.76992e-12	16	164				
TTC38	55020	broad.mit.edu	37	22	46685356	46685356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46685356C>T	ENST00000381031.3	+	12	1216	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TTC38_ENST00000445282.2_Silent_p.C322C	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	380						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TGCCCCTGTGCCAGGCCCTGG	0.687																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(1138-1140)tgC>tgT		tetratricopeptide repeat domain 38							28.0	36.0	33.0					22																	46685356		2085	4197	6282	SO:0001819	synonymous_variant	55020						binding	g.chr22:46685356C>T		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1140C>T	22.37:g.46685356C>T						TTC38_ENST00000445282.2_Silent_p.C322C	p.C380C	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			12	1216	+			380					Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	c.1140C>T	CCDS43030.1																																																																																				0.687	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		33	261	0	0	0	1	0	33	261				
TACC2	10579	broad.mit.edu	37	10	123843830	123843830	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123843830G>A	ENST00000369005.1	+	4	2155	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	TACC2_ENST00000515603.1_Silent_p.K605K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.K605K|TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000453444.2_Silent_p.K605K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	605					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAGCAGCAAGCGTGATCCAG	0.567																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1813-1815)aaG>aaA		transforming, acidic coiled-coil containing protein 2							70.0	67.0	68.0					10																	123843830		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843830G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1815G>A	10.37:g.123843830G>A						TACC2_ENST00000515603.1_Silent_p.K605K|TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.K605K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.K605K	p.K605K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2155	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	605					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1815G>A	CCDS7626.1																																																																																				0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			47	232	0	0	0	1	0	47	232				
ACSBG2	81616	broad.mit.edu	37	19	6185467	6185467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6185467G>A	ENST00000586696.1	+	11	1619	c.1343G>A	c.(1342-1344)gGg>gAg	p.G448E	ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000588304.1_Missense_Mutation_p.G398E|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	448					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCTTGACTGGGTGTAAGAAT	0.527																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1192-1194)gGg>gAg		acyl-CoA synthetase bubblegum family member 2							230.0	214.0	219.0					19																	6185467		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6185467G>A		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1343G>A	19.37:g.6185467G>A	ENSP00000465589:p.Gly448Glu					ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000586696.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E	p.G398E			Q5FVE4	ACBG2_HUMAN			11	1639	+			448					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.1193G>A	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517510	0.64634	.	.	ENSG00000130377	ENST00000252669	T	0.15487	2.42	4.76	4.76	0.60689	AMP-dependent synthetase/ligase (1);	0.000000	0.44483	D	0.000445	T	0.48314	0.1493	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.58132	-0.7690	10	0.72032	D	0.01	-22.657	16.3481	0.83151	0.0:0.0:1.0:0.0	.	448;448	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	E	448	ENSP00000252669:G448E	ENSP00000252669:G448E	G	+	2	0	ACSBG2	6136467	1.000000	0.71417	0.555000	0.28281	0.355000	0.29361	6.292000	0.72725	2.208000	0.71279	0.555000	0.69702	GGG		0.527	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		219	1082	0	0	0	1	0	219	1082				
FAM220A	84792	broad.mit.edu	37	7	6370120	6370120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6370120C>A	ENST00000313324.4	-	2	1133	c.666G>T	c.(664-666)aaG>aaT	p.K222N	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	222						nucleus (GO:0005634)											CTATTGTTTGCTTTGAAAACA	0.433																																						ENST00000313324.4																			0											c.(664-666)aaG>aaT		family with sequence similarity 220, member A							112.0	120.0	117.0					7																	6370120		2203	4300	6503	SO:0001583	missense	84792					nucleus		g.chr7:6370120C>A	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.666G>T	7.37:g.6370120C>A	ENSP00000317289:p.Lys222Asn						p.K222N	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	1133	-			222					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.666G>T	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	9.312	1.055715	0.19907	.	.	ENSG00000178397	ENST00000313324	T	0.08370	3.1	5.12	2.34	0.29019	.	0.299726	0.23164	U	0.051217	T	0.05593	0.0147	N	0.22421	0.69	0.09310	N	1	B	0.32160	0.358	B	0.32805	0.153	T	0.35325	-0.9793	10	0.38643	T	0.18	-2.4707	7.3516	0.26695	0.0:0.6558:0.0:0.3442	.	222	Q7Z4H9	SIPAR_HUMAN	N	222	ENSP00000317289:K222N	ENSP00000317289:K222N	K	-	3	2	C7orf70	6336645	0.516000	0.26218	0.001000	0.08648	0.001000	0.01503	0.375000	0.20518	0.574000	0.29417	-0.136000	0.14681	AAG		0.433	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		104	584	1	0	2.6418e-55	1	3.30104e-55	104	584				
ALKBH1	8846	broad.mit.edu	37	14	78142126	78142126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78142126C>T	ENST00000216489.3	-	5	628	c.613G>A	c.(613-615)Gct>Act	p.A205T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	205					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCACAGGCAGCGGCTACTTGC	0.458																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(613-615)Gct>Act		alkB, alkylation repair homolog 1 (E. coli)							89.0	89.0	89.0					14																	78142126		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78142126C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.613G>A	14.37:g.78142126C>T	ENSP00000216489:p.Ala205Thr						p.A205T	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	5	628	-			205					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.613G>A	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834784	0.32421	.	.	ENSG00000100601	ENST00000216489	T	0.12039	2.72	6.17	1.31	0.21738	.	0.172481	0.51477	N	0.000096	T	0.10380	0.0254	L	0.49778	1.585	0.29447	N	0.858722	P	0.37663	0.604	B	0.32465	0.146	T	0.24012	-1.0172	10	0.15499	T	0.54	-20.6112	10.5931	0.45321	0.0:0.6266:0.0:0.3734	.	205	Q13686	ALKB1_HUMAN	T	205	ENSP00000216489:A205T	ENSP00000216489:A205T	A	-	1	0	ALKBH1	77211879	0.005000	0.15991	0.031000	0.17742	0.888000	0.51559	0.135000	0.15952	-0.021000	0.14009	-0.123000	0.14984	GCT		0.458	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		58	292	0	0	0	1	0	58	292				
LRTOMT	220074	broad.mit.edu	37	11	71806076	71806076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71806076C>T	ENST00000289488.2	+	5	749	c.371C>T	c.(370-372)gCt>gTt	p.A124V	LRTOMT_ENST00000440313.2_5'UTR|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000324866.7_Missense_Mutation_p.A124V|LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000419228.1_5'UTR|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000536917.1_Missense_Mutation_p.A124V	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	124						cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						AATAAGCTGGCTGTCCTTCCT	0.562																																						ENST00000324866.7																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(370-372)gCt>gTt		leucine rich transmembrane and O-methyltransferase domain containing							103.0	98.0	100.0					11																	71806076		2200	4293	6493	SO:0001583	missense	220074					cytoplasm		g.chr11:71806076C>T		CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"""leucine rich repeat containing 51"", ""deafness, autosomal recessive 63"""	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.371C>T	11.37:g.71806076C>T	ENSP00000289488:p.Ala124Val					LRTOMT_ENST00000440313.2_5'UTR|LAMTOR1_ENST00000545249.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000536917.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000289488.2_Missense_Mutation_p.A124V|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V	p.A124V	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN			5	537	+			124					B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	ENST00000289488.2	37	c.371C>T	CCDS8208.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388637	0.61956	.	.	ENSG00000184154	ENST00000289488;ENST00000447974;ENST00000423494;ENST00000538478;ENST00000324866;ENST00000439209;ENST00000541614;ENST00000536917	T;T;T;T;T;T;T;T	0.61627	0.09;0.35;0.09;0.09;0.35;0.35;0.35;0.35	5.46	5.46	0.80206	.	0.129035	0.49916	D	0.000131	T	0.53997	0.1831	L	0.53249	1.67	0.80722	D	1	B;B;B	0.31009	0.059;0.303;0.059	B;B;B	0.28232	0.087;0.069;0.055	T	0.54166	-0.8334	10	0.44086	T	0.13	-10.6208	16.2262	0.82293	0.0:1.0:0.0:0.0	.	106;124;124	Q96E66-6;Q96E66-2;Q96E66	.;.;LRC51_HUMAN	V	124;124;106;124;124;124;124;124	ENSP00000289488:A124V;ENSP00000414271:A124V;ENSP00000441249:A106V;ENSP00000444583:A124V;ENSP00000440693:A124V;ENSP00000395139:A124V;ENSP00000438522:A124V;ENSP00000443421:A124V	ENSP00000289488:A124V	A	+	2	0	LRTOMT	71483724	0.976000	0.34144	1.000000	0.80357	0.987000	0.75469	2.159000	0.42339	2.575000	0.86900	0.609000	0.83330	GCT		0.562	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337504.1	NM_145309		10	435	0	0	0	1	0	10	435				
CES3	23491	broad.mit.edu	37	16	67006262	67006262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006262C>T	ENST00000303334.4	+	11	1366	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	CES3_ENST00000394037.1_Missense_Mutation_p.S432F|CES3_ENST00000543856.1_Missense_Mutation_p.S71F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	432						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCTGTAGATTCTGGAAGCCCT	0.498																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1294-1296)tCt>tTt		carboxylesterase 3							303.0	315.0	311.0					16																	67006262		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006262C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1295C>T	16.37:g.67006262C>T	ENSP00000304782:p.Ser432Phe					CES3_ENST00000543856.1_Missense_Mutation_p.S71F|CES3_ENST00000394037.1_Missense_Mutation_p.S432F	p.S432F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	11	1366	+		Ovarian(137;0.0563)	432					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.1295C>T	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743562	0.69418	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.09911	2.93;2.93;2.93	5.13	3.15	0.36227	Carboxylesterase, type B (1);	0.442058	0.16934	N	0.193544	T	0.11110	0.0271	L	0.43554	1.36	0.25662	N	0.986	B;B	0.15719	0.003;0.014	B;B	0.22152	0.026;0.038	T	0.20438	-1.0275	10	0.87932	D	0	.	9.6111	0.39663	0.0:0.7787:0.1426:0.0787	.	71;432	F5H242;Q6UWW8	.;EST3_HUMAN	F	432;432;71	ENSP00000304782:S432F;ENSP00000377602:S432F;ENSP00000445559:S71F	ENSP00000304782:S432F	S	+	2	0	CES3	65563763	0.931000	0.31567	0.010000	0.14722	0.051000	0.14879	2.671000	0.46842	0.554000	0.29061	-0.304000	0.09214	TCT		0.498	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		368	1722	0	0	0	1	0	368	1722				
PLCH1	23007	broad.mit.edu	37	3	155199440	155199440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155199440C>A	ENST00000340059.7	-	23	4398	c.4399G>T	c.(4399-4401)Gat>Tat	p.D1467Y	PLCH1_ENST00000460012.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1429Y|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1467					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACATGCATATCTTGAGCACTA	0.463																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4285-4287)Gat>Tat		phospholipase C, eta 1							116.0	110.0	112.0					3																	155199440		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199440C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4399G>T	3.37:g.155199440C>A	ENSP00000345988:p.Asp1467Tyr					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1429Y|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1467Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y	p.D1429Y			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4642	-			1467					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4285G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443117	0.12164	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.93	4.05	0.47172	.	1.702460	0.02980	N	0.145486	T	0.35451	0.0932	L	0.47716	1.5	0.09310	N	1	P;P	0.52692	0.955;0.845	P;B	0.47251	0.542;0.254	T	0.32348	-0.9910	10	0.62326	D	0.03	.	11.2881	0.49234	0.3315:0.6685:0.0:0.0	.	1429;1467	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Y	1429;1467;1429;1429	ENSP00000417502:D1429Y;ENSP00000345988:D1467Y;ENSP00000335469:D1429Y;ENSP00000412977:D1429Y	ENSP00000335469:D1429Y	D	-	1	0	PLCH1	156682134	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.315000	0.33608	1.038000	0.40049	-0.302000	0.09304	GAT		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		10	412	1	0	0.000673444	1	0.000681208	10	412				
TTN	7273	broad.mit.edu	37	2	179507020	179507020	+	Missense_Mutation	SNP	C	C	T	rs571348685	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179507020C>T	ENST00000591111.1	-	169	35803	c.35579G>A	c.(35578-35580)cGc>cAc	p.R11860H	TTN_ENST00000359218.5_Missense_Mutation_p.R4561H|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN-AS1_ENST00000418062.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R13501H|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11860	Glu-rich.|Pro-rich.				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)			AAGTAATTTGCGAACTTTCTT	0.323													C|||	5	0.000998403	0.0	0.0	5008	,	,		16532	0.0		0.0	False		,,,				2504	0.0051					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.(40501-40503)cGc>cAc		titin							54.0	49.0	51.0					2																	179507020		1803	4065	5868	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179507020C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35579G>A	2.37:g.179507020C>T	ENSP00000465570:p.Arg11860His					TTN_ENST00000359218.5_Missense_Mutation_p.R4561H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R11860H	p.R13501H	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)		219	40726	-			11860			Ig-like 91.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.40502G>A		.	.	.	.	.	.	.	.	.	.	C	17.90	3.502075	0.64298	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.67345	-0.26;0.17;0.16;0.15	5.55	4.67	0.58626	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59307	0.2184	L	0.46157	1.445	0.36310	D	0.857617	B;B;B;B;B	0.31640	0.014;0.014;0.014;0.014;0.333	B;B;B;B;B	0.25506	0.005;0.005;0.005;0.005;0.061	T	0.67715	-0.5599	9	0.87932	D	0	.	14.1448	0.65344	0.0:0.928:0.0:0.072	.	4436;4561;4628;11860;10627	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	H	10933;4436;4628;4561;4436;822;160	ENSP00000343764:R10933H;ENSP00000434586:R4436H;ENSP00000340554:R4628H;ENSP00000352154:R4561H	ENSP00000340554:R4628H	R	-	2	0	TTN	179215265	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.528000	0.53524	1.344000	0.45657	0.591000	0.81541	CGC		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	45	0	0	0	1	0	6	45				
TTC29	83894	broad.mit.edu	37	4	147861051	147861051	+	5'UTR	SNP	G	G	A	rs184542607	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147861051G>A	ENST00000325106.4	-	0	223				TTC29_ENST00000398886.4_Silent_p.S25S|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000513335.1_Silent_p.S25S	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29											breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGTCATTTCGGACTACAAAA	0.413													g|||	4	0.000798722	0.0	0.0014	5008	,	,		16372	0.002		0.001	False		,,,				2504	0.0					ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(73-75)tcC>tcT		tetratricopeptide repeat domain 29		A		0,3708		0,0,1854	63.0	67.0	66.0			-0.7	0.0	4		66	4,8170		0,4,4083	no	utr-5	TTC29	NM_031956.2		0,4,5937	AA,AG,GG		0.0489,0.0,0.0337			147861051	4,11878	1854	4087	5941	SO:0001623	5_prime_UTR_variant	83894						binding	g.chr4:147861051G>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.-4C>T	4.37:g.147861051G>A						TTC29_ENST00000325106.4_5'UTR|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000398886.4_Silent_p.S25S	p.S25S			Q8NA56	TTC29_HUMAN			4	274	-	all_hematologic(180;0.151)		0					A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	c.75C>T	CCDS47141.1																																																																																				0.413	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		23	96	0	0	0	1	0	23	96				
NOX3	50508	broad.mit.edu	37	6	155752006	155752006	+	Nonsense_Mutation	SNP	G	G	A	rs560159515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155752006G>A	ENST00000159060.2	-	8	964	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	288	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGTTGAAATCGCCAGAACCTA	0.363																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(862-864)Cga>Tga		NADPH oxidase 3							100.0	94.0	96.0					6																	155752006		2203	4300	6503	SO:0001587	stop_gained	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155752006G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.862C>T	6.37:g.155752006G>A	ENSP00000159060:p.Arg288*						p.R288*	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	8	964	-		Breast(66;0.0183)	288			FAD-binding FR-type.		Q9HBJ9	Nonsense_Mutation	SNP	ENST00000159060.2	37	c.862C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	37	6.535245	0.97646	.	.	ENSG00000074771	ENST00000159060	.	.	.	5.86	4.97	0.65823	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9666	13.3395	0.60537	0.0:0.0:0.5566:0.4434	.	.	.	.	X	288	.	ENSP00000159060:R288X	R	-	1	2	NOX3	155793698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	1.560000	0.49568	0.650000	0.86243	CGA		0.363	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			27	284	0	0	0	1	0	27	284				
C9orf84	158401	broad.mit.edu	37	9	114500748	114500748	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114500748A>C	ENST00000318737.4	-	10	1165	c.1037T>G	c.(1036-1038)aTa>aGa	p.I346R	C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R|C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000394779.3_Missense_Mutation_p.I307R	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	346										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACAGAAAATATCTTTTTCAA	0.333																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(919-921)aTa>aGa		chromosome 9 open reading frame 84							89.0	90.0	90.0					9																	114500748		2202	4299	6501	SO:0001583	missense	158401							g.chr9:114500748A>C	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1037T>G	9.37:g.114500748A>C	ENSP00000322108:p.Ile346Arg					C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R|C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000318737.4_Missense_Mutation_p.I346R	p.I307R	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			8	1164	-			346					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.920T>G	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848526	0.32699	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.88	1.21	0.21127	.	0.960710	0.08668	N	0.911433	T	0.46698	0.1406	L	0.32530	0.975	0.09310	N	0.999998	P;P;D;D	0.57571	0.688;0.688;0.958;0.98	B;B;P;P	0.56700	0.246;0.246;0.748;0.804	T	0.32322	-0.9911	10	0.87932	D	0	0.4228	3.1529	0.06494	0.6338:0.0:0.191:0.1751	.	307;410;346;307	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	R	307;307;346;346;410	ENSP00000378259:I307R;ENSP00000378257:I307R;ENSP00000363405:I346R;ENSP00000322108:I346R;ENSP00000363401:I410R	ENSP00000322108:I346R	I	-	2	0	C9orf84	113540569	0.005000	0.15991	0.000000	0.03702	0.431000	0.31685	0.988000	0.29616	0.112000	0.17975	0.377000	0.23210	ATA		0.333	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		67	303	0	0	0	1	0	67	303				
EMC9	51016	broad.mit.edu	37	14	24608299	24608299	+	Missense_Mutation	SNP	G	G	A	rs140552029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24608299G>A	ENST00000419198.2	-	5	827	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000216799.4_Missense_Mutation_p.R183W|EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_Missense_Mutation_p.R109W			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	183						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											CAGTCCTGCCGGATGTCATCA	0.597													g|||	2	0.000399361	0.0015	0.0	5008	,	,		17714	0.0		0.0	False		,,,				2504	0.0					ENST00000419198.2																			0											c.(547-549)Cgg>Tgg		ER membrane protein complex subunit 9		G	TRP/ARG	15,4391	22.3+/-47.3	0,15,2188	95.0	89.0	91.0		547	5.4	1.0	14	dbSNP_134	91	0,8600		0,0,4300	yes	missense	FAM158A	NM_016049.3	101	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	probably-damaging	183/209	24608299	15,12991	2203	4300	6503	SO:0001583	missense	51016							g.chr14:24608299G>A	BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.547C>T	14.37:g.24608299G>A	ENSP00000403210:p.Arg183Trp					EMC9_ENST00000216799.4_Missense_Mutation_p.R183W|EMC9_ENST00000560403.1_Missense_Mutation_p.R109W	p.R183W							5	827	-								D3DS60|Q9BUM3	Missense_Mutation	SNP	ENST00000419198.2	37	c.547C>T	CCDS9613.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	19.36	3.813538	0.70912	0.003404	0.0	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.46819	0.86;0.86	5.4	5.4	0.78164	.	0.119595	0.53938	D	0.000060	T	0.63815	0.2543	L	0.61218	1.895	0.34161	D	0.668649	D	0.89917	1.0	D	0.76071	0.987	T	0.73639	-0.3919	10	0.72032	D	0.01	-19.4384	11.5736	0.50848	0.0:0.0:0.8222:0.1777	.	183	Q9Y3B6	F158A_HUMAN	W	183	ENSP00000403210:R183W;ENSP00000216799:R183W	ENSP00000216799:R183W	R	-	1	2	FAM158A	23678139	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.687000	0.54692	2.797000	0.96272	0.655000	0.94253	CGG		0.597	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049		70	369	0	0	0	1	0	70	369				
CASS4	57091	broad.mit.edu	37	20	55027901	55027901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55027901G>T	ENST00000360314.3	+	6	1894	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	CASS4_ENST00000371336.3_Missense_Mutation_p.D557Y|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	557					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAACAGCCCAGATGACCTTGA	0.488																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1669-1671)Gat>Tat		Cas scaffolding protein family member 4							93.0	84.0	87.0					20																	55027901		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027901G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1669G>T	20.37:g.55027901G>T	ENSP00000353462:p.Asp557Tyr					CASS4_ENST00000360314.3_Missense_Mutation_p.D557Y|CASS4_ENST00000434344.1_Intron	p.D557Y	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			5	1870	+			557					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1669G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875157	0.91664	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.36878	1.23;1.23	6.17	6.17	0.99709	Serine rich protein interaction (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69840	-0.5036	10	0.87932	D	0	-26.0262	20.8794	0.99867	0.0:0.0:1.0:0.0	.	503;557;557	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Y	557	ENSP00000353462:D557Y;ENSP00000360387:D557Y	ENSP00000353462:D557Y	D	+	1	0	CASS4	54461308	1.000000	0.71417	0.962000	0.40283	0.994000	0.84299	8.912000	0.92726	2.941000	0.99782	0.655000	0.94253	GAT		0.488	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		28	309	1	0	2.12542e-12	1	2.28249e-12	28	309				
USP19	10869	broad.mit.edu	37	3	49147789	49147789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49147789C>T	ENST00000398888.2	-	25	3875	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000453664.1_Missense_Mutation_p.R1277H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1186	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAACAAGCGCCAGCCTAC	0.577																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3829-3831)cGc>cAc		ubiquitin specific peptidase 19							53.0	59.0	57.0					3																	49147789		2165	4262	6427	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49147789C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3557G>A	3.37:g.49147789C>T	ENSP00000381863:p.Arg1186His					USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000398888.2_Missense_Mutation_p.R1186H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H	p.R1277H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	4148	-			1186					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.3830G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238243	0.79800	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046862	0.85682	D	0.000000	T	0.45776	0.1359	N	0.25485	0.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.998;0.955	T	0.33574	-0.9863	10	0.45353	T	0.12	-17.718	19.7629	0.96329	0.0:1.0:0.0:0.0	.	1287;1277;1186;1226;994	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	H	994;1226;1289;1277;1226;1186;1287	ENSP00000381870:R994H;ENSP00000381872:R1226H;ENSP00000395260:R1289H;ENSP00000400090:R1277H;ENSP00000381867:R1226H;ENSP00000381863:R1186H;ENSP00000401197:R1287H	ENSP00000381863:R1186H	R	-	2	0	USP19	49122793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.476000	0.81055	2.666000	0.90696	0.561000	0.74099	CGC		0.577	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		55	265	0	0	0	1	0	55	265				
DOK7	285489	broad.mit.edu	37	4	3495172	3495172	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3495172G>T	ENST00000340083.5	+	7	1524	c.1459G>T	c.(1459-1461)Gct>Tct	p.A487S	DOK7_ENST00000389653.2_Missense_Mutation_p.A487S|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	487					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCACCCCCGGCTTTCTTTTC	0.692																																						ENST00000340083.5																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1459-1461)Gct>Tct		docking protein 7							8.0	9.0	9.0					4																	3495172		2065	4013	6078	SO:0001583	missense	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3495172G>T	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1459G>T	4.37:g.3495172G>T	ENSP00000344432:p.Ala487Ser					DOK7_ENST00000389653.2_Missense_Mutation_p.A487S|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	p.A487S	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	7	1524	+			487					A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	c.1459G>T	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839279	0.32513	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.68903	-0.36;-0.27	3.77	2.92	0.33932	.	0.149388	0.44688	D	0.000440	T	0.78489	0.4291	M	0.73598	2.24	0.09310	N	0.999996	P;D;B	0.71674	0.713;0.998;0.147	B;D;B	0.80764	0.424;0.994;0.035	T	0.68477	-0.5398	10	0.56958	D	0.05	-9.6516	10.5116	0.44866	0.0958:0.0:0.9042:0.0	.	487;349;487	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	S	487	ENSP00000374304:A487S;ENSP00000344432:A487S	ENSP00000344432:A487S	A	+	1	0	DOK7	3464970	0.998000	0.40836	0.043000	0.18650	0.147000	0.21601	2.799000	0.47892	0.812000	0.34326	0.555000	0.69702	GCT		0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		17	66	1	0	1.56452e-12	1	1.68123e-12	17	66				
ERO1LB	56605	broad.mit.edu	37	1	236399130	236399130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236399130C>T	ENST00000354619.5	-	8	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	211					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	ATAAACAGATCGAGGCCTGAA	0.343																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(631-633)cGa>cAa		ERO1-like beta (S. cerevisiae)							67.0	69.0	68.0					1																	236399130		2202	4300	6502	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236399130C>T	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.632G>A	1.37:g.236399130C>T	ENSP00000346635:p.Arg211Gln						p.R211Q	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	833	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	211					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.632G>A	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.474928	0.43942	.	.	ENSG00000086619	ENST00000354619	T	0.41758	0.99	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.05306	-0.075	0.80722	D	1	B	0.22080	0.064	B	0.20955	0.032	T	0.16660	-1.0395	10	0.06236	T	0.91	-11.014	20.2366	0.98359	0.0:1.0:0.0:0.0	.	211	Q86YB8	ERO1B_HUMAN	Q	211	ENSP00000346635:R211Q	ENSP00000346635:R211Q	R	-	2	0	ERO1LB	234465753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.133000	0.77259	2.792000	0.96026	0.557000	0.71058	CGA		0.343	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		8	270	0	0	0	1	0	8	270				
AMBP	259	broad.mit.edu	37	9	116840415	116840415	+	Silent	SNP	C	C	T	rs200238441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116840415C>T	ENST00000265132.3	-	1	337	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	25					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)	p.P25P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTGTCGGGCGGCGTTGGCA	0.617													C|||	6	0.00119808	0.0	0.0	5008	,	,		17510	0.003		0.0	False		,,,				2504	0.0031					ENST00000265132.3																			2	Substitution - coding silent(2)	p.P25P(2)	breast(1)|kidney(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(73-75)ccG>ccA		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						111.0	121.0	117.0					9																	116840415		2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116840415C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.75G>A	9.37:g.116840415C>T							p.P25P	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			1	337	-			25					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.75G>A	CCDS6800.1																																																																																				0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		113	493	0	0	0	1	0	113	493				
RADIL	55698	broad.mit.edu	37	7	4841394	4841394	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4841394C>T	ENST00000399583.3	-	12	2919	c.2732G>A	c.(2731-2733)gGc>gAc	p.G911D	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G671D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	911	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGCTCAGGGCCAAGTGGAGT	0.716																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2731-2733)gGc>gAc		Ras association and DIL domains							8.0	11.0	10.0					7																	4841394		1875	4062	5937	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4841394C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2732G>A	7.37:g.4841394C>T	ENSP00000382492:p.Gly911Asp					RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G671D	p.G911D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	12	2919	-		Ovarian(82;0.0175)	911			Pro-rich.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.2732G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473350	0.26423	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000538469	T;T	0.06933	3.31;3.24	4.8	2.6	0.31112	.	0.381481	0.27518	N	0.019006	T	0.10508	0.0257	L	0.60455	1.87	0.19575	N	0.999961	P;D	0.54772	0.544;0.968	B;P	0.51135	0.175;0.66	T	0.07908	-1.0748	10	0.07644	T	0.81	-19.2591	5.8629	0.18759	0.3355:0.562:0.0:0.1025	.	911;219	Q96JH8;Q75LH2	RADIL_HUMAN;.	D	911;882;671	ENSP00000382492:G911D;ENSP00000442966:G671D	ENSP00000320946:G882D	G	-	2	0	RADIL	4807920	0.529000	0.26322	0.015000	0.15790	0.022000	0.10575	0.844000	0.27654	0.998000	0.38996	-0.217000	0.12591	GGC		0.716	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		19	90	0	0	0	1	0	19	90				
APRT	353	broad.mit.edu	37	16	88872999	88872999	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88872999G>A	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.A347T	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGAGCCGGCCGCGCTGCCCCA	0.692																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1039-1041)Gcg>Acg		chromatin licensing and DNA replication factor 1							14.0	17.0	16.0					16																	88872999		2174	4281	6455	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88872999G>A		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88872999G>A							p.A347T	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	7	1658	+			347					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1039G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951065	0.18431	.	.	ENSG00000167513	ENST00000301019	T	0.30182	1.54	4.97	3.95	0.45737	.	0.745843	0.12753	N	0.441992	T	0.19644	0.0472	N	0.24115	0.695	0.09310	N	1	B	0.33073	0.396	B	0.21708	0.036	T	0.06826	-1.0805	10	0.26408	T	0.33	.	14.4075	0.67093	0.0:0.1486:0.8514:0.0	.	347	Q9H211	CDT1_HUMAN	T	347	ENSP00000301019:A347T	ENSP00000301019:A347T	A	+	1	0	CDT1	87400500	0.995000	0.38212	0.252000	0.24328	0.006000	0.05464	2.228000	0.42981	2.308000	0.77769	0.462000	0.41574	GCG		0.692	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		27	99	0	0	0	1	0	27	99				
VPS13D	55187	broad.mit.edu	37	1	12368618	12368618	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368618C>A	ENST00000358136.3	+	27	6700	c.6570C>A	c.(6568-6570)tcC>tcA	p.S2190S	VPS13D_ENST00000356315.4_Silent_p.S2190S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTCCCTTCCTATTTTGTGC	0.458																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6568-6570)tcC>tcA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							174.0	167.0	169.0					1																	12368618		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12368618C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6570C>A	1.37:g.12368618C>A						VPS13D_ENST00000356315.4_Silent_p.S2190S	p.S2190S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	27	6700	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2190						Silent	SNP	ENST00000358136.3	37	c.6570C>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909829	0.17833	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.61	4.66	0.58398	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56836	-0.7913	4	.	.	.	.	8.5528	0.33462	0.1482:0.771:0.0:0.0809	.	.	.	.	H	1013	.	.	P	+	2	0	VPS13D	12291205	0.999000	0.42202	1.000000	0.80357	0.888000	0.51559	0.658000	0.24979	1.274000	0.44362	-0.355000	0.07637	CCT		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		84	639	1	0	6.44939e-38	1	7.75849e-38	84	639				
SLC38A4	55089	broad.mit.edu	37	12	47173814	47173814	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47173814C>T	ENST00000447411.1	-	7	700		c.e7-1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4						amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTGACATTGCTAAAATGGAA	0.378																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.e7-1		solute carrier family 38, member 4							109.0	98.0	101.0					12																	47173814		2203	4299	6502	SO:0001630	splice_region_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47173814C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.494-1G>A	12.37:g.47173814C>T						SLC38A4_ENST00000266579.4_Splice_Site		NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			7	700	-	Lung SC(27;0.192)|Renal(347;0.236)							A8K553	Splice_Site	SNP	ENST00000447411.1	37		CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310032	0.81247	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A4	45460081	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	.		0.378	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		Intron	74	316	0	0	0	1	0	74	316				
KREMEN1	83999	broad.mit.edu	37	22	29517357	29517357	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29517357T>G	ENST00000407188.1	+	4	359	c.359T>G	c.(358-360)cTt>cGt	p.L120R	KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R|KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000400338.2_Missense_Mutation_p.L122R			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	120	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCTGGAAACCTTGGCTGCTAC	0.423																																						ENST00000400338.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						c.(364-366)cTt>cGt		kringle containing transmembrane protein 1							91.0	92.0	92.0					22																	29517357		2100	4230	6330	SO:0001583	missense	0				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29517357T>G	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.359T>G	22.37:g.29517357T>G	ENSP00000385431:p.Leu120Arg					KREMEN1_ENST00000407188.1_Missense_Mutation_p.L120R|KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R	p.L122R			Q96MU8	KREM1_HUMAN			4	418	+			120			WSC.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.365T>G	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134638	0.77662	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.14	5.14	0.70334	Carbohydrate-binding WSC (2);Kringle (1);Kringle-like fold (1);	0.000000	0.52532	D	0.000065	T	0.74291	0.3697	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.73720	-0.3894	10	0.31617	T	0.26	.	13.2238	0.59903	0.0:0.0:0.0:1.0	.	120;122;122	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	R	122;122;122;120	ENSP00000383189:L122R;ENSP00000383192:L122R;ENSP00000331242:L122R;ENSP00000385431:L120R	ENSP00000331242:L122R	L	+	2	0	KREMEN1	27847357	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.474000	0.81024	2.075000	0.62263	0.460000	0.39030	CTT		0.423	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			99	410	0	0	0	1	0	99	410				
COL8A2	1296	broad.mit.edu	37	1	36563679	36563679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563679C>T	ENST00000397799.1	-	4	1827	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T|COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	535	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATCGAAGGCCCCAGGGGCA	0.746																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1603-1605)Gcc>Acc		collagen, type VIII, alpha 2							7.0	9.0	8.0					1																	36563679		2114	4176	6290	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563679C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1603G>A	1.37:g.36563679C>T	ENSP00000380901:p.Ala535Thr					COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T|COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T	p.A535T			P25067	CO8A2_HUMAN			4	1827	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	535			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1603G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246784	0.10130	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.94280	-3.39;-3.39;-3.39	3.85	0.904	0.19302	.	0.539335	0.16818	N	0.198300	D	0.86527	0.5954	L	0.38649	1.16	0.29604	N	0.847453	B	0.02656	0.0	B	0.01281	0.0	T	0.73193	-0.4060	10	0.12766	T	0.61	.	9.4277	0.38590	0.0:0.7447:0.0:0.2553	.	535	P25067	CO8A2_HUMAN	T	535;535;470;259	ENSP00000305913:A535T;ENSP00000380901:A535T;ENSP00000436433:A470T	ENSP00000305913:A535T	A	-	1	0	COL8A2	36336266	0.412000	0.25392	0.817000	0.32601	0.560000	0.35617	0.763000	0.26517	0.419000	0.25927	0.462000	0.41574	GCC		0.746	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		9	70	0	0	0	1	0	9	70				
NSUN4	387338	broad.mit.edu	37	1	46827361	46827361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827361G>T	ENST00000474844.1	+	6	1648	c.998G>T	c.(997-999)aGc>aTc	p.S333I	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	333					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AATCAATACAGCATCCAGGTA	0.478																																						ENST00000474844.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(997-999)aGc>aTc		NOP2/Sun domain family, member 4							304.0	280.0	288.0					1																	46827361		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46827361G>T	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.998G>T	1.37:g.46827361G>T	ENSP00000419740:p.Ser333Ile					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I	p.S333I	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN			6	1648	+	Acute lymphoblastic leukemia(166;0.155)		333					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.998G>T	CCDS534.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596087	0.46318	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.14893	2.47;2.48;2.48	5.43	0.566	0.17317	.	0.254757	0.47455	D	0.000236	T	0.19967	0.0480	L	0.46157	1.445	0.09310	N	1	P;B	0.44281	0.831;0.004	P;B	0.48552	0.581;0.044	T	0.07558	-1.0766	10	0.49607	T	0.09	-2.0149	10.326	0.43793	0.4737:0.0:0.5263:0.0	.	200;333	B3KUM0;Q96CB9	.;NSUN4_HUMAN	I	333;284;284	ENSP00000419740:S333I;ENSP00000438912:S284I;ENSP00000437758:S284I	ENSP00000419740:S333I	S	+	2	0	NSUN4	46599948	0.610000	0.26983	0.991000	0.47740	0.495000	0.33615	0.270000	0.18607	0.239000	0.21243	0.655000	0.94253	AGC		0.478	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		118	465	1	0	2.32265e-44	1	2.8419e-44	118	465				
KLHL31	401265	broad.mit.edu	37	6	53519553	53519553	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519553A>G	ENST00000407079.1	-	1	517	c.518T>C	c.(517-519)aTg>aCg	p.M173T	KLHL31_ENST00000370905.3_Missense_Mutation_p.M173T			Q9H511	KLH31_HUMAN	kelch-like family member 31	173	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AACAACATACATGCAATTCTC	0.368																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(517-519)aTg>aCg		kelch-like family member 31							76.0	79.0	78.0					6																	53519553		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519553A>G		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.518T>C	6.37:g.53519553A>G	ENSP00000384644:p.Met173Thr					KLHL31_ENST00000407079.1_Missense_Mutation_p.M173T	p.M173T	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	658	-	Lung NSC(77;0.0158)		173			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.518T>C	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590830	0.28357	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68624	-0.34;-0.34	6.03	4.87	0.63330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.54323	1.7	0.53688	D	0.999978	B	0.18461	0.028	B	0.18263	0.021	T	0.52711	-0.8539	10	0.62326	D	0.03	.	12.1727	0.54167	0.9336:0.0:0.0664:0.0	.	173	Q9H511	KLH31_HUMAN	T	173	ENSP00000359942:M173T;ENSP00000384644:M173T	ENSP00000359942:M173T	M	-	2	0	KLHL31	53627512	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.522000	0.81844	1.100000	0.41517	0.454000	0.30748	ATG		0.368	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		81	318	0	0	0	1	0	81	318				
GNL2	29889	broad.mit.edu	37	1	38042031	38042031	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38042031T>G	ENST00000373062.3	-	9	1134	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	346	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CAACGTACCTTTGTTTCACCT	0.418																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1036-1038)Aag>Cag		guanine nucleotide binding protein-like 2 (nucleolar)							168.0	149.0	155.0					1																	38042031		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38042031T>G	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1036A>C	1.37:g.38042031T>G	ENSP00000362153:p.Lys346Gln						p.K346Q	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			9	1134	-		Myeloproliferative disorder(586;0.0393)	346			G.		Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1036A>C	CCDS421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.278906|5.278906	0.95489|0.95489	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000373062;ENST00000545489|ENST00000538069	T|.	0.13778|.	2.56|.	6.14|6.14	6.14|6.14	0.99180|0.99180	GTP-binding domain, HSR1-related (1);|.	0.087721|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	P|.	0.35894|.	0.526|.	P|.	0.52031|.	0.688|.	T|T	0.75425|0.75425	-0.3322|-0.3322	10|5	0.66056|.	D|.	0.02|.	-15.4024|-15.4024	16.806|16.806	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	346|.	Q13823|.	NOG2_HUMAN|.	Q|H	346;187|197	ENSP00000362153:K346Q|.	ENSP00000362153:K346Q|.	K|Q	-|-	1|3	0|2	GNL2|GNL2	37814618|37814618	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.896000|0.896000	0.52359|0.52359	8.008000|8.008000	0.88588|0.88588	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	AAG|CAA		0.418	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		44	423	0	0	0	1	0	44	423				
SLC12A3	6559	broad.mit.edu	37	16	56906698	56906698	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56906698G>T	ENST00000563236.1	+	8	1120	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	SLC12A3_ENST00000438926.2_Splice_Site_p.K365N|SLC12A3_ENST00000262502.5_Splice_Site_p.K364N|SLC12A3_ENST00000566786.1_Splice_Site_p.K364N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	365					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GTGACCTCAAGGTGAGCAGAA	0.597																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.e8+1		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						68.0	61.0	63.0					16																	56906698		2198	4300	6498	SO:0001630	splice_region_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906698G>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1095+1G>T	16.37:g.56906698G>T						SLC12A3_ENST00000566786.1_Splice_Site_p.K364_splice|SLC12A3_ENST00000262502.5_Splice_Site_p.K364_splice|SLC12A3_ENST00000563236.1_Splice_Site_p.K365_splice	p.K365_splice	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			8	1124	+			365					A8MSJ2|C9JNN9	Splice_Site	SNP	ENST00000563236.1	37	c.1095_splice	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902203	0.72754	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.67	4.72	0.59763	Amino acid permease domain (1);	0.044027	0.85682	D	0.000000	D	0.86243	0.5886	H	0.95816	3.725	0.80722	D	1	B;P;P	0.43412	0.329;0.806;0.769	B;P;P	0.61397	0.279;0.888;0.821	D	0.89721	0.3919	9	0.87932	D	0	.	14.6175	0.68560	0.0702:0.0:0.9297:0.0	.	364;365;365	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	364;365	.	ENSP00000262502:K365N	K	+	3	2	SLC12A3	55464199	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.634000	0.61325	1.395000	0.46643	0.561000	0.74099	AAG		0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		Missense_Mutation	57	252	1	0	1.69475e-38	1	2.04315e-38	57	252				
UBE3A	7337	broad.mit.edu	37	15	25616462	25616462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25616462C>T	ENST00000397954.2	-	4	867	c.868G>A	c.(868-870)Gta>Ata	p.V290I	UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|UBE3A_ENST00000232165.3_Missense_Mutation_p.V287I			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	290			V -> G (in dbSNP:rs1059383). {ECO:0000269|PubMed:8380895, ECO:0000269|PubMed:9143503, ECO:0000269|Ref.9}.		androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTCCATTACGATAATGAAC	0.393																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(859-861)Gta>Ata		ubiquitin protein ligase E3A							54.0	52.0	53.0					15																	25616462		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616462C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.868G>A	15.37:g.25616462C>T	ENSP00000381045:p.Val290Ile					UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I|UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.V290I	p.V287I	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	1515	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	290					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.859G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834978	0.32421	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17854	2.25;2.25;2.26;2.26	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.33293	1	0.58432	D	0.999998	B;B	0.34313	0.448;0.004	B;B	0.25614	0.062;0.004	T	0.07481	-1.0770	10	0.21014	T	0.42	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	287;290	Q05086-3;Q05086	.;UBE3A_HUMAN	I	287;287;290;267;267	ENSP00000232165:V287I;ENSP00000381045:V290I;ENSP00000411258:V267I;ENSP00000401265:V267I	ENSP00000232165:V287I	V	-	1	0	UBE3A	23167555	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.044000	0.57361	2.779000	0.95612	0.591000	0.81541	GTA		0.393	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		47	269	0	0	0	1	0	47	269				
EPG5	57724	broad.mit.edu	37	18	43529485	43529485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43529485C>T	ENST00000282041.5	-	5	1496	c.1462G>A	c.(1462-1464)Gct>Act	p.A488T		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	488					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTAACACCAGCGGGGCATCGA	0.433																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1462-1464)Gct>Act		ectopic P-granules autophagy protein 5 homolog (C. elegans)							85.0	82.0	83.0					18																	43529485		1861	4097	5958	SO:0001583	missense	57724				autophagy			g.chr18:43529485C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1462G>A	18.37:g.43529485C>T	ENSP00000282041:p.Ala488Thr						p.A488T	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			5	1496	-			488					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1462G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	34	5.405655	0.96051	.	.	ENSG00000152223	ENST00000282041	T	0.80909	-1.43	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.88507	0.6455	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89111	0.3496	10	0.72032	D	0.01	-11.7532	19.1922	0.93671	0.0:1.0:0.0:0.0	.	488;488	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	T	488	ENSP00000282041:A488T	ENSP00000282041:A488T	A	-	1	0	EPG5	41783483	1.000000	0.71417	0.945000	0.38365	0.892000	0.51952	5.575000	0.67430	2.607000	0.88179	0.650000	0.86243	GCT		0.433	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		43	154	0	0	0	1	0	43	154				
SGSH	6448	broad.mit.edu	37	17	78184610	78184610	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78184610A>C	ENST00000326317.6	-	8	1236	c.1150T>G	c.(1150-1152)Ttc>Gtc	p.F384V	SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	384					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACGAGGCGGAAGTGCCGGTGC	0.637																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1150-1152)Ttc>Gtc		N-sulfoglucosamine sulfohydrolase							193.0	169.0	177.0					17																	78184610		2203	4300	6503	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184610A>C	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1150T>G	17.37:g.78184610A>C	ENSP00000314606:p.Phe384Val					SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	p.F384V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1236	-	all_neural(118;0.0952)		384					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.1150T>G	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656211	0.29425	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.96365	-3.99;-3.99	4.45	2.23	0.28157	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.133727	0.52532	D	0.000077	D	0.95459	0.8525	M	0.72479	2.2	0.37862	D	0.929755	B	0.33964	0.434	B	0.42959	0.403	D	0.94190	0.7440	10	0.72032	D	0.01	-28.2188	7.8443	0.29417	0.823:0.0:0.177:0.0	.	384	P51688	SPHM_HUMAN	V	384;181	ENSP00000314606:F384V;ENSP00000437778:F181V	ENSP00000314606:F384V	F	-	1	0	SGSH	75799205	0.995000	0.38212	0.768000	0.31515	0.149000	0.21700	3.137000	0.50562	0.573000	0.29400	0.459000	0.35465	TTC		0.637	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		127	621	0	0	0	1	0	127	621				
REST	5978	broad.mit.edu	37	4	57796239	57796239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796239G>T	ENST00000309042.7	+	4	1529	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	405	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTAATCTACAGTATCACTTCA	0.388																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1213-1215)caG>caT		RE1-silencing transcription factor							146.0	144.0	145.0					4																	57796239		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796239G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1215G>T	4.37:g.57796239G>T	ENSP00000311816:p.Gln405His						p.Q405H	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	1529	+	Glioma(25;0.08)|all_neural(26;0.181)		405			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1215G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547197	0.65311	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.42900	0.96	5.8	1.01	0.19927	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000008	T	0.43567	0.1253	L	0.54323	1.7	0.53005	D	0.999968	D;P	0.61697	0.99;0.89	P;B	0.52424	0.698;0.286	T	0.28870	-1.0030	10	0.72032	D	0.01	-13.699	6.4542	0.21920	0.3222:0.114:0.5638:0.0	.	382;405	F8WAN5;Q13127	.;REST_HUMAN	H	405;405;382	ENSP00000311816:Q405H	ENSP00000311816:Q405H	Q	+	3	2	REST	57490996	1.000000	0.71417	0.991000	0.47740	0.883000	0.51084	2.740000	0.47418	-0.130000	0.11599	-0.175000	0.13238	CAG		0.388	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		96	529	1	0	4.04957e-52	1	5.03512e-52	96	529				
TM9SF2	9375	broad.mit.edu	37	13	100193890	100193890	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100193890A>C	ENST00000376387.4	+	9	1176	c.986A>C	c.(985-987)gAt>gCt	p.D329A		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	329					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTGCACAAAGATATTGCTAGA	0.353																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(985-987)gAt>gCt		transmembrane 9 superfamily member 2							223.0	202.0	209.0					13																	100193890		2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100193890A>C	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.986A>C	13.37:g.100193890A>C	ENSP00000365567:p.Asp329Ala						p.D329A	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			9	1176	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		329					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.986A>C	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828309	0.90955	.	.	ENSG00000125304	ENST00000376387	T	0.61742	0.08	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91589	0.5285	10	0.87932	D	0	-36.901	15.1335	0.72545	1.0:0.0:0.0:0.0	.	295;329	E9PHW5;Q99805	.;TM9S2_HUMAN	A	329	ENSP00000365567:D329A	ENSP00000365567:D329A	D	+	2	0	TM9SF2	98991891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.215000	0.95146	1.965000	0.57142	0.477000	0.44152	GAT		0.353	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			114	425	0	0	0	1	0	114	425				
HLA-G	3135	broad.mit.edu	37	6	29796436	29796436	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29796436C>A	ENST00000360323.6	+	3	484	c.460C>A	c.(460-462)Ctg>Atg	p.L154M	HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000428701.1_Missense_Mutation_p.L154M|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	154	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAACGAGGACCTGCGCTCCTG	0.622																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21	GRCh37	CD984106	HLA-G	D	rs41557518	c.(460-462)Ctg>Atg		major histocompatibility complex, class I, G							113.0	99.0	104.0					6																	29796436		1511	2709	4220	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29796436C>A		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.460C>A	6.37:g.29796436C>A	ENSP00000353472:p.Leu154Met					HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000360323.6_Missense_Mutation_p.L154M|HLA-G_ENST00000376815.3_Intron	p.L154M	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			4	638	+			154			Alpha-2.			Missense_Mutation	SNP	ENST00000360323.6	37	c.460C>A	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.193006	0.38707	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323	T;T;T	0.01076	5.37;5.37;5.37	1.72	-0.768	0.11013	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.537287	0.12660	U	0.449709	T	0.03348	0.0097	H	0.96430	3.82	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.19745	-1.0296	10	0.87932	D	0	.	2.4347	0.04480	0.4383:0.3625:0.0:0.1993	.	159;154	Q5RJ85;P17693	.;HLAG_HUMAN	M	159;154;154	ENSP00000366024:L159M;ENSP00000412927:L154M;ENSP00000353472:L154M	ENSP00000353472:L154M	L	+	1	2	HLA-G	29904415	0.000000	0.05858	0.890000	0.34922	0.087000	0.18053	-0.549000	0.06041	0.071000	0.16664	0.298000	0.19748	CTG		0.622	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		25	512	1	0	1.96895e-08	1	2.05624e-08	25	512				
FER	2241	broad.mit.edu	37	5	108168620	108168620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108168620G>T	ENST00000281092.4	+	4	741	c.357G>T	c.(355-357)caG>caT	p.Q119H	FER_ENST00000536402.1_Missense_Mutation_p.Q119H|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	119	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTGTTCATCAGCAGATAGAGG	0.383																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(355-357)caG>caT		fer (fps/fes related) tyrosine kinase							173.0	154.0	160.0					5																	108168620		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108168620G>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.357G>T	5.37:g.108168620G>T	ENSP00000281092:p.Gln119His					FER_ENST00000536402.1_Missense_Mutation_p.Q119H|FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR	p.Q119H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	4	741	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	119			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.357G>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170539	0.78452	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.44482	0.92;0.92	6.11	3.36	0.38483	.	0.052287	0.85682	D	0.000000	T	0.52158	0.1717	L	0.58101	1.795	0.80722	D	1	D;D	0.62365	0.991;0.976	P;P	0.57324	0.818;0.72	T	0.51309	-0.8722	10	0.66056	D	0.02	-11.7439	10.5961	0.45338	0.2783:0.0:0.7217:0.0	.	119;119	Q6PEJ9;P16591	.;FER_HUMAN	H	119	ENSP00000281092:Q119H;ENSP00000442627:Q119H	ENSP00000281092:Q119H	Q	+	3	2	FER	108196519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.129000	0.57957	0.450000	0.26774	-0.136000	0.14681	CAG		0.383	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		108	410	1	0	2.96211e-45	1	3.63119e-45	108	410				
HIVEP3	59269	broad.mit.edu	37	1	41976832	41976832	+	Missense_Mutation	SNP	G	G	A	rs192804009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41976832G>A	ENST00000372583.1	-	9	7396	c.6511C>T	c.(6511-6513)Cgg>Tgg	p.R2171W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R2170W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2171					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCTGTCCGGGCCAGGATG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17024	0.001		0.0	False		,,,				2504	0.0					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6508-6510)Cgg>Tgg		human immunodeficiency virus type I enhancer binding protein 3		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	98.0	94.0	95.0		6508,6511	4.0	1.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2170/2406,2171/2407	41976832	1,13005	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976832G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6511C>T	1.37:g.41976832G>A	ENSP00000361664:p.Arg2171Trp					HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R2171W	p.R2170W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			8	7522	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2171					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6508C>T	CCDS463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.05	2.717244	0.48622	0.0	1.16E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.27;3.26;3.26;3.27	4.94	3.99	0.46301	.	0.000000	0.43416	D	0.000575	T	0.12390	0.0301	L	0.29908	0.895	0.31181	N	0.702082	D;D	0.71674	0.998;0.997	P;P	0.56751	0.805;0.644	T	0.02505	-1.1149	10	0.56958	D	0.05	-9.1919	9.1971	0.37235	0.0:0.1599:0.6746:0.1654	.	2170;2171	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	2170;2171;2171;2170	ENSP00000361665:R2170W;ENSP00000361664:R2171W;ENSP00000247584:R2171W;ENSP00000410828:R2170W	ENSP00000247584:R2171W	R	-	1	2	HIVEP3	41749419	1.000000	0.71417	0.983000	0.44433	0.342000	0.28953	3.272000	0.51616	1.243000	0.43853	0.561000	0.74099	CGG		0.637	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		11	324	0	0	0	1	0	11	324				
OR13A1	79290	broad.mit.edu	37	10	45799323	45799323	+	Missense_Mutation	SNP	C	C	T	rs116633831	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799323C>T	ENST00000553795.1	-	4	856	c.548G>A	c.(547-549)cGc>cAc	p.R183H	OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H|OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		21234	0.0		0.0	False		,,,				2504	0.0					ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(547-549)cGc>cAc		olfactory receptor, family 13, subfamily A, member 1		C	HIS/ARG	49,4357	48.9+/-83.8	0,49,2154	48.0	50.0	50.0		548	1.9	0.0	10	dbSNP_132	50	0,8596		0,0,4298	yes	missense	OR13A1	NM_001004297.2	29	0,49,6452	TT,TC,CC		0.0,1.1121,0.3769	possibly-damaging	183/329	45799323	49,12953	2203	4298	6501	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799323C>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.548G>A	10.37:g.45799323C>T	ENSP00000451950:p.Arg183His					OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H|OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H	p.R183H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN			4	856	-			183					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.548G>A	CCDS31188.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	c	10.85	1.467132	0.26335	0.011121	0.0	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00169	8.63;8.63;8.63	5.78	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.337003	0.21928	N	0.067072	T	0.00109	0.0003	L	0.45137	1.4	0.09310	N	1	B	0.28820	0.224	B	0.30782	0.12	T	0.36744	-0.9735	10	0.59425	D	0.04	-11.6422	4.3697	0.11242	0.1471:0.5436:0.0:0.3094	.	183	Q8NGR1	O13A1_HUMAN	H	183	ENSP00000451950:R183H;ENSP00000438657:R183H;ENSP00000363522:R183H	ENSP00000311379:R183H	R	-	2	0	OR13A1	45119329	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	-1.628000	0.02031	0.095000	0.17434	0.650000	0.86243	CGC		0.592	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		77	307	0	0	0	1	0	77	307				
PLEKHG1	57480	broad.mit.edu	37	6	151161984	151161984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151161984G>T	ENST00000358517.2	+	16	4321	c.4110G>T	c.(4108-4110)caG>caT	p.Q1370H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1370H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1370							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATATTGTCCAGTCTCTAAGGG	0.373																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(4108-4110)caG>caT		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							76.0	78.0	77.0					6																	151161984		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161984G>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4110G>T	6.37:g.151161984G>T	ENSP00000351318:p.Gln1370His					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1370H	p.Q1370H	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4422	+			1370					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.4110G>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135406	0.77662	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.71461	-0.57;-0.57	5.7	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.68952	2.095	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81629	-0.0846	10	0.87932	D	0	.	13.7983	0.63184	0.0749:0.0:0.9251:0.0	.	1177;1370	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	H	1370	ENSP00000356297:Q1370H;ENSP00000351318:Q1370H	ENSP00000351318:Q1370H	Q	+	3	2	PLEKHG1	151203677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.333000	0.72939	1.369000	0.46134	0.655000	0.94253	CAG		0.373	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			78	410	1	0	1.30681e-28	1	1.52204e-28	78	410				
DVL2	1856	broad.mit.edu	37	17	7130980	7130980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7130980G>A	ENST00000005340.5	-	11	1507	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	DVL2_ENST00000575458.1_Missense_Mutation_p.P403S|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	409					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACCATCAGGCAAAGACGAT	0.612																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1225-1227)Cct>Tct		dishevelled segment polarity protein 2							63.0	62.0	62.0					17																	7130980		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7130980G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1225C>T	17.37:g.7130980G>A	ENSP00000005340:p.Pro409Ser					DVL2_ENST00000575458.1_Missense_Mutation_p.P403S	p.P409S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			11	1507	-			409					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1225C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555622	0.45487	.	.	ENSG00000004975	ENST00000005340	T	0.05855	3.38	4.69	4.69	0.59074	.	0.121077	0.56097	D	0.000032	T	0.09291	0.0229	L	0.55213	1.73	0.42008	D	0.990925	P;B	0.38711	0.643;0.435	B;B	0.42422	0.387;0.157	T	0.13656	-1.0501	10	0.30078	T	0.28	-11.0428	10.2236	0.43212	0.0:0.0:0.802:0.198	.	403;409	B4DLQ0;O14641	.;DVL2_HUMAN	S	409	ENSP00000005340:P409S	ENSP00000005340:P409S	P	-	1	0	DVL2	7071704	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.964000	0.63701	2.446000	0.82766	0.655000	0.94253	CCT		0.612	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		37	141	0	0	0	1	0	37	141				
RANBP17	64901	broad.mit.edu	37	5	170338133	170338133	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170338133G>T	ENST00000523189.1	+	7	919	c.755G>T	c.(754-756)aGa>aTa	p.R252I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	252					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAACTTGGAGAACAAGTAAG	0.373			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(754-756)aGa>aTa		RAN binding protein 17							47.0	44.0	45.0					5																	170338133		2203	4299	6502	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170338133G>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.755G>T	5.37:g.170338133G>T	ENSP00000427975:p.Arg252Ile						p.R252I	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	919	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	252					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.755G>T	CCDS34287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.7|25.7	4.661002|4.661002	0.88154|0.88154	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000522734|ENST00000523189;ENST00000545246	.|T	.|0.29397	.|1.57	5.43|5.43	4.56|4.56	0.56223|0.56223	.|Armadillo-type fold (1);	.|0.089808	.|0.49305	.|D	.|0.000156	T|T	0.62962|0.62962	0.2471|0.2471	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.71803|0.71803	-0.4482|-0.4482	5|10	.|0.59425	.|D	.|0.04	-10.4345|-10.4345	13.8894|13.8894	0.63729|0.63729	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	.|252	.|Q9H2T7	.|RBP17_HUMAN	D|I	34|252;148	.|ENSP00000427975:R252I	.|ENSP00000373770:R252I	E|R	+|+	3|2	2|0	RANBP17|RANBP17	170270711|170270711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	6.608000|6.608000	0.74168|0.74168	1.407000|1.407000	0.46875|0.46875	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.373	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		28	176	1	0	1.75199e-13	1	1.89187e-13	28	176				
DNAJA3	9093	broad.mit.edu	37	16	4491569	4491569	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4491569C>A	ENST00000262375.6	+	4	700	c.623C>A	c.(622-624)cCt>cAt	p.P208H	DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.P55H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	208					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGATCAGCCTCAGGAAGTA	0.428																																						ENST00000262375.6																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(622-624)cCt>cAt		DnaJ (Hsp40) homolog, subfamily A, member 3							58.0	58.0	58.0					16																	4491569		2197	4300	6497	SO:0001583	missense	9093				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding	g.chr16:4491569C>A	AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.623C>A	16.37:g.4491569C>A	ENSP00000262375:p.Pro208His					DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.P55H	p.P208H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN			4	700	+			208					B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	c.623C>A	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705733	0.89018	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.66280	-0.2;-0.19;0.88	5.79	4.83	0.62350	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.997;0.993;0.999	P;D;P	0.64595	0.864;0.927;0.907	T	0.78099	-0.2336	10	0.72032	D	0.01	-9.1381	14.4155	0.67148	0.0:0.928:0.0:0.072	.	55;208;208	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	H	208;208;55	ENSP00000262375:P208H;ENSP00000347445:P208H;ENSP00000393970:P55H	ENSP00000262375:P208H	P	+	2	0	DNAJA3	4431570	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.768000	0.85345	2.752000	0.94435	0.558000	0.71614	CCT		0.428	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			12	263	1	0	0.38729	1	0.387367	12	263				
SEMA6D	80031	broad.mit.edu	37	15	48055280	48055280	+	Silent	SNP	C	C	T	rs141276774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48055280C>T	ENST00000316364.5	+	9	1165	c.726C>T	c.(724-726)gtC>gtT	p.V242V	SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	242	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V242V(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAATCGCTGTCGAACATAATA	0.363																																						ENST00000316364.5																			1	Substitution - coding silent(1)	p.V242V(1)	skin(1)	biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(724-726)gtC>gtT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							83.0	79.0	80.0					15																	48055280		2197	4295	6492	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48055280C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.726C>T	15.37:g.48055280C>T						SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V	p.V242V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	9	1165	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	242			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.726C>T	CCDS32225.1																																																																																				0.363	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		26	150	0	0	0	1	0	26	150				
PCDHB3	56132	broad.mit.edu	37	5	140480291	140480291	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480291T>G	ENST00000231130.2	+	1	58	c.58T>G	c.(58-60)Ttt>Gtt	p.F20V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	20					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTTTGTTTTTCTGGGAGG	0.507																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(58-60)Ttt>Gtt									84.0	95.0	91.0					5																	140480291		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480291T>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.58T>G	5.37:g.140480291T>G	ENSP00000231130:p.Phe20Val					AC005754.7_ENST00000607216.1_RNA	p.F20V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	58	+			20					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.58T>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979876	0.34942	.	.	ENSG00000113205	ENST00000231130	T	0.47869	0.83	4.77	0.509	0.16977	.	.	.	.	.	T	0.32496	0.0831	L	0.37630	1.12	0.19300	N	0.999973	B	0.18461	0.028	B	0.12156	0.007	T	0.28299	-1.0048	9	0.56958	D	0.05	.	3.4948	0.07650	0.2739:0.2045:0.0:0.5217	.	20	Q9Y5E6	PCDB3_HUMAN	V	20	ENSP00000231130:F20V	ENSP00000231130:F20V	F	+	1	0	PCDHB3	140460475	0.000000	0.05858	0.897000	0.35233	0.981000	0.71138	0.186000	0.16978	0.243000	0.21327	-0.274000	0.10170	TTT		0.507	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		75	278	0	0	0	1	0	75	278				
TRIM2	23321	broad.mit.edu	37	4	154217082	154217082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154217082G>A	ENST00000437508.2	+	6	1524	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	TRIM2_ENST00000338700.5_Silent_p.P468P|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	441					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTAAGTCCCCGGGGAGCGGCC	0.532																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1402-1404)ccG>ccA		tripartite motif containing 2							54.0	56.0	56.0					4																	154217082		2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154217082G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1323G>A	4.37:g.154217082G>A						TRIM2_ENST00000437508.2_Silent_p.P441P|TRIM2_ENST00000494872.1_3'UTR	p.P468P	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1469	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	441					D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.1404G>A	CCDS47147.1																																																																																				0.532	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			45	242	0	0	0	1	0	45	242				
SDK1	221935	broad.mit.edu	37	7	4091441	4091441	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4091441C>A	ENST00000404826.2	+	19	3029	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	SDK1_ENST00000389531.3_Missense_Mutation_p.L964M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	964	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACACCTCAGCTGGTCTGGAC	0.522																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2890-2892)Ctg>Atg		sidekick cell adhesion molecule 1							126.0	118.0	121.0					7																	4091441		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4091441C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2890C>A	7.37:g.4091441C>A	ENSP00000385899:p.Leu964Met					SDK1_ENST00000389531.3_Missense_Mutation_p.L964M	p.L964M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	3029	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	964			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2890C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242853	0.22796	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55052	0.54;0.54	5.62	5.62	0.85841	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.74658	0.3745	M	0.83384	2.64	0.42244	D	0.991944	P;D	0.63880	0.555;0.993	P;D	0.66084	0.587;0.941	T	0.74365	-0.3689	10	0.38643	T	0.18	.	19.69	0.95996	0.0:1.0:0.0:0.0	.	964;964	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	964	ENSP00000385899:L964M;ENSP00000374182:L964M	ENSP00000374182:L964M	L	+	1	2	SDK1	4057967	1.000000	0.71417	0.991000	0.47740	0.519000	0.34347	3.111000	0.50360	2.648000	0.89879	0.650000	0.86243	CTG		0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		93	524	1	0	2.76863e-45	1	3.39467e-45	93	524				
DNAH12	201625	broad.mit.edu	37	3	57496520	57496520	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57496520A>G	ENST00000351747.2	-	5	646	c.466T>C	c.(466-468)Ttg>Ctg	p.L156L	DNAH12_ENST00000311202.6_Silent_p.L156L|DNAH12_ENST00000389536.4_Silent_p.L156L|RNU6-1181P_ENST00000384191.1_RNA	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	156	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TACTTACCCAAATATCTCTTC	0.398																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(466-468)Ttg>Ctg		dynein, axonemal, heavy chain 12							133.0	115.0	121.0					3																	57496520		2203	4300	6503	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57496520A>G	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.466T>C	3.37:g.57496520A>G						DNAH12_ENST00000389536.4_Silent_p.L156L|DNAH12_ENST00000311202.6_Silent_p.L156L	p.L156L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			5	646	-			156			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.466T>C																																																																																					0.398	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		45	249	0	0	0	1	0	45	249				
MFSD2B	388931	broad.mit.edu	37	2	24239035	24239035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239035G>A	ENST00000406420.3	+	3	248	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A78T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	78					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GATCCCTGCCGCCCAGGTGTC	0.612																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(232-234)Gcc>Acc		major facilitator superfamily domain containing 2B							61.0	63.0	62.0					2																	24239035		1944	4145	6089	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24239035G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.232G>A	2.37:g.24239035G>A	ENSP00000385527:p.Ala78Thr					MFSD2B_ENST00000406420.3_Missense_Mutation_p.A78T	p.A78T			A6NFX1	MFS2B_HUMAN			3	232	+			78					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.232G>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152068	0.38021	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.89617	-2.54;-2.54	5.42	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);	1.084960	0.07103	U	0.840727	D	0.83459	0.5259	L	0.34521	1.04	0.27780	N	0.943183	B	0.32829	0.386	B	0.26202	0.067	T	0.74890	-0.3510	10	0.66056	D	0.02	-23.4313	10.9067	0.47084	0.0:0.0:0.7049:0.2951	.	78	A6NFX1	MFS2B_HUMAN	T	78	ENSP00000385527:A78T;ENSP00000342501:A78T	ENSP00000342501:A78T	A	+	1	0	MFSD2B	24092539	0.956000	0.32656	1.000000	0.80357	0.129000	0.20672	2.539000	0.45718	2.721000	0.93114	0.511000	0.50034	GCC		0.612	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		40	285	0	0	0	1	0	40	285				
SNX10	29887	broad.mit.edu	37	7	26404691	26404691	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26404691A>C	ENST00000338523.4	+	5	424	c.237A>C	c.(235-237)aaA>aaC	p.K79N	SNX10_ENST00000409367.1_Missense_Mutation_p.K39N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000409838.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	79	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.				cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TTCCATCTAAAAACCTGTTTT	0.413											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338523.4																			0				endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(235-237)aaA>aaC		sorting nexin 10							59.0	63.0	62.0					7																	26404691		2203	4300	6503	SO:0001583	missense	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26404691A>C	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.237A>C	7.37:g.26404691A>C	ENSP00000343709:p.Lys79Asn		OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	786	SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.K39N|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N	p.K79N	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN			5	424	+			79			PX.		E9PFH5|Q8IYT5	Missense_Mutation	SNP	ENST00000338523.4	37	c.237A>C	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327163	0.81690	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	6.17	5.03	0.67393	Phox homologous domain (5);	0.137279	0.64402	D	0.000003	T	0.74898	0.3777	M	0.92459	3.31	0.39415	D	0.966823	D;D	0.63880	0.993;0.986	P;P	0.61397	0.888;0.67	T	0.82084	-0.0632	10	0.87932	D	0	.	11.8368	0.52330	0.9327:0.0:0.0673:0.0	.	105;79	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	N	105;79;105;79;39	ENSP00000408164:K105N;ENSP00000343709:K79N;ENSP00000395474:K105N;ENSP00000379661:K79N;ENSP00000387274:K39N	ENSP00000343709:K79N	K	+	3	2	SNX10	26371216	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.599000	0.46231	2.371000	0.80710	0.533000	0.62120	AAA		0.413	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			44	174	0	0	0	1	0	44	174				
KRT16P1	729252	broad.mit.edu	37	17	18344603	18344603	+	RNA	SNP	C	C	A	rs549877357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18344603C>A	ENST00000581027.1	+	0	635									keratin 16 pseudogene 1																		GATAGAAGGCCTGAAGGAGGA	0.627													c|||	6	0.00119808	0.0045	0.0	5008	,	,		18461	0.0		0.0	False		,,,				2504	0.0					ENST00000580052.1																			0																																																			0							g.chr17:18344603C>A			17p11.2	2012-08-13	2010-02-25	2010-02-25	ENSG00000214856	ENSG00000214856			6420	pseudogene	pseudogene			"""keratin 14 pseudogene"""	KRT14P			Standard	NR_073414		Approved		uc010vya.2		OTTHUMG00000059249		17.37:g.18344603C>A						KRT16P1_ENST00000581027.1_RNA								0	43	+									RNA	SNP	ENST00000581027.1	37																																																																																						0.627	KRT16P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446576.1	NG_007001		65	105	1	0	7.46257e-40	1	9.03299e-40	65	105				
CIDEA	1149	broad.mit.edu	37	18	12262855	12262855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12262855C>T	ENST00000320477.9	+	2	135	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	24					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACAGACTAAGCGAGTCCTGTT	0.502																																						ENST00000320477.9																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(70-72)Cga>Tga		cell death-inducing DFFA-like effector a							65.0	66.0	66.0					18																	12262855		2203	4300	6503	SO:0001587	stop_gained	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12262855C>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.70C>T	18.37:g.12262855C>T	ENSP00000320209:p.Arg24*					CIDEA_ENST00000521296.1_3'UTR	p.R24*	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN			2	135	+			24					B0YIY7|Q6UPR7	Nonsense_Mutation	SNP	ENST00000320477.9	37	c.70C>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262096	0.59431	.	.	ENSG00000176194	ENST00000320477	.	.	.	5.51	1.59	0.23543	.	1.472780	0.04843	N	0.440771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.8447	14.6318	0.68660	0.5299:0.4701:0.0:0.0	.	.	.	.	X	24	.	ENSP00000320209:R24X	R	+	1	2	CIDEA	12252855	0.005000	0.15991	0.002000	0.10522	0.344000	0.29017	0.786000	0.26844	0.394000	0.25230	0.655000	0.94253	CGA		0.502	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		82	399	0	0	0	1	0	82	399				
TGFB2	7042	broad.mit.edu	37	1	218520115	218520115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218520115C>T	ENST00000366930.4	+	1	539	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TGFB2_ENST00000366929.4_Silent_p.C24C|RP11-224O19.2_ENST00000414452.1_RNA	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	24					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGTCTACCTGCAGCACACTCG	0.512																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(70-72)tgC>tgT		transforming growth factor, beta 2							88.0	89.0	88.0					1																	218520115		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218520115C>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.72C>T	1.37:g.218520115C>T						TGFB2_ENST00000366930.4_Silent_p.C24C	p.C24C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	1	539	+			24					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.72C>T	CCDS1521.1																																																																																				0.512	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		115	397	0	0	0	1	0	115	397				
DLEC1	9940	broad.mit.edu	37	3	38141888	38141888	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38141888G>A	ENST00000308059.6	+	19	2857	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GACCGTCCTGGAGCTGGAGGT	0.522																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2836-2838)Gag>Aag		deleted in lung and esophageal cancer 1							66.0	69.0	68.0					3																	38141888		1999	4157	6156	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38141888G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2836G>A	3.37:g.38141888G>A	ENSP00000308597:p.Glu946Lys					DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K	p.E946K			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	19	2857	+			946						Missense_Mutation	SNP	ENST00000308059.6	37	c.2836G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031665	0.75504	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05786	3.41;3.39;3.63	4.68	3.8	0.43715	.	0.134395	0.48286	D	0.000192	T	0.13798	0.0334	M	0.72894	2.215	0.38794	D	0.95504	P;P;D;P	0.58268	0.897;0.744;0.982;0.897	P;B;P;P	0.55055	0.625;0.196;0.767;0.625	T	0.18241	-1.0343	10	0.06891	T	0.86	-11.375	12.2875	0.54800	0.0861:0.0:0.9139:0.0	.	946;946;946;946	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	K	946	ENSP00000308597:E946K;ENSP00000315914:E946K;ENSP00000410427:E946K	ENSP00000308597:E946K	E	+	1	0	DLEC1	38116892	1.000000	0.71417	0.947000	0.38551	0.747000	0.42532	4.466000	0.60148	1.087000	0.41251	0.467000	0.42956	GAG		0.522	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		88	396	0	0	0	1	0	88	396				
POTEF	728378	broad.mit.edu	37	2	130877873	130877873	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130877873G>A	ENST00000409914.2	-	3	615	c.216C>T	c.(214-216)tgC>tgT	p.C72C	POTEF_ENST00000361163.4_Silent_p.C72C|POTEF_ENST00000357462.5_Silent_p.C72C|POTEF_ENST00000360967.5_Silent_p.C72C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	72					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CACTCCCCCTGCAGCAGGGGA	0.587																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(214-216)tgC>tgT		POTE ankyrin domain family, member F							80.0	112.0	101.0					2																	130877873		2190	4295	6485	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130877873G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.216C>T	2.37:g.130877873G>A						POTEF_ENST00000361163.4_Silent_p.C72C|POTEF_ENST00000409914.2_Silent_p.C72C|POTEF_ENST00000360967.5_Silent_p.C72C	p.C72C			A5A3E0	POTEF_HUMAN			1	309	-			72					A6NC34	Silent	SNP	ENST00000409914.2	37	c.216C>T	CCDS46409.1																																																																																				0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		55	1308	0	0	0	1	0	55	1308				
FAM83F	113828	broad.mit.edu	37	22	40417900	40417900	+	Silent	SNP	C	C	T	rs553725529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40417900C>T	ENST00000333407.6	+	4	1480	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	FAM83F_ENST00000473717.1_Silent_p.T294T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	462										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGTCTCCACCGAGACCTCTG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15858	0.0		0.0	False		,,,				2504	0.001					ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(1384-1386)acC>acT		family with sequence similarity 83, member F							45.0	54.0	51.0					22																	40417900		2130	4250	6380	SO:0001819	synonymous_variant	113828							g.chr22:40417900C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1386C>T	22.37:g.40417900C>T						FAM83F_ENST00000473717.1_3'UTR	p.T462T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	1480	+			462					Q96FD6	Silent	SNP	ENST00000333407.6	37	c.1386C>T	CCDS14000.2																																																																																				0.657	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		55	321	0	0	0	1	0	55	321				
KDM4B	23030	broad.mit.edu	37	19	5077407	5077407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5077407G>A	ENST00000159111.4	+	8	924	c.706G>A	c.(706-708)Gac>Aac	p.D236N	KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N|KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	236	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCAGGGCTGCGACGCCTTCCT	0.657																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(706-708)Gac>Aac		lysine (K)-specific demethylase 4B							130.0	134.0	133.0					19																	5077407		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5077407G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.706G>A	19.37:g.5077407G>A	ENSP00000159111:p.Asp236Asn					KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N	p.D236N	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			8	924	+			236			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.706G>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760404	0.69763	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71461	-0.57;-0.57;-0.57	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.15473	0.01;0.013;0.013	B;B;B	0.18561	0.013;0.003;0.022	T	0.50792	-0.8786	10	0.39692	T	0.17	-28.7526	17.2595	0.87066	0.0:0.0:1.0:0.0	.	236;236;236	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	N	236	ENSP00000159111:D236N;ENSP00000371178:D236N;ENSP00000440495:D236N	ENSP00000159111:D236N	D	+	1	0	KDM4B	5028407	1.000000	0.71417	0.916000	0.36221	0.936000	0.57629	9.690000	0.98676	2.066000	0.61787	0.462000	0.41574	GAC		0.657	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		221	1154	0	0	0	1	0	221	1154				
YPEL2	388403	broad.mit.edu	37	17	57466830	57466830	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57466830G>A	ENST00000312655.4	+	4	588		c.e4+1		YPEL2_ENST00000581865.1_Splice_Site|YPEL2_ENST00000585166.1_Splice_Site	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTGGAAATACGTAAGTATAAA	0.498																																					Melanoma(86;1113 1364 8518 42220 42625)	ENST00000312655.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.e4+1		yippee-like 2 (Drosophila)							60.0	53.0	55.0					17																	57466830		2203	4300	6503	SO:0001630	splice_region_variant	388403					nucleolus		g.chr17:57466830G>A	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.270+1G>A	17.37:g.57466830G>A						YPEL2_ENST00000585166.1_Splice_Site|YPEL2_ENST00000581865.1_Splice_Site		NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN			4	588	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)							A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Splice_Site	SNP	ENST00000312655.4	37		CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615140	0.87359	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5633	0.95382	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YPEL2	54821612	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.869000	0.98440	0.558000	0.71614	.		0.498	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070	Intron	6	143	0	0	0	1	0	6	143				
SEC24C	9632	broad.mit.edu	37	10	75520479	75520479	+	Missense_Mutation	SNP	G	G	A	rs368086925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520479G>A	ENST00000339365.2	+	7	1021	c.859G>A	c.(859-861)Gga>Aga	p.G287R	SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	287					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)|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(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGGTTCCTTCGGACCAGCCCG	0.537																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(859-861)Gga>Aga		SEC24 family member C		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	53.0	61.0	58.0		859,859	5.8	1.0	10		58	0,8600		0,0,4300	no	missense,missense	SEC24C	NM_004922.3,NM_198597.2	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/1095,287/1095	75520479	1,13005	2203	4300	6503	SO:0001583	missense	9632				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	protein binding|zinc ion binding	g.chr10:75520479G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.859G>A	10.37:g.75520479G>A	ENSP00000343405:p.Gly287Arg					SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R|SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R	p.G287R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			7	1021	+	Prostate(51;0.0112)		287					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.859G>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989466	0.93106	2.27E-4	0.0	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.25250	1.81;1.81;1.81	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	P;D;P	0.78314	0.691;0.991;0.86	T	0.50583	-0.8811	10	0.42905	T	0.14	-6.0416	20.0736	0.97735	0.0:0.0:1.0:0.0	.	145;287;287	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	R	145;287;287;145	ENSP00000321845:G287R;ENSP00000343405:G287R;ENSP00000402913:G145R	ENSP00000343405:G287R	G	+	1	0	SEC24C	75190485	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.542000	0.98086	2.748000	0.94277	0.655000	0.94253	GGA		0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			93	366	0	0	0	1	0	93	366				
COLGALT2	23127	broad.mit.edu	37	1	183944281	183944281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183944281G>A	ENST00000361927.4	-	3	813	c.442C>T	c.(442-444)Cga>Tga	p.R148*	COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.R148*	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	148					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GCTGCCTGTCGTAGTTTCATC	0.423																																						ENST00000361927.4																			0											c.(442-444)Cga>Tga		collagen beta(1-O)galactosyltransferase 2							113.0	107.0	109.0					1																	183944281		2203	4300	6503	SO:0001587	stop_gained	23127							g.chr1:183944281G>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.442C>T	1.37:g.183944281G>A	ENSP00000354960:p.Arg148*					COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.R148*	p.R148*	NM_015101.2	NP_055916.1					3	813	-								O60327|Q9BZR0	Nonsense_Mutation	SNP	ENST00000361927.4	37	c.442C>T	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	41	8.564328	0.98866	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2816	14.8115	0.70000	0.0:0.0:0.8554:0.1446	.	.	.	.	X	148	.	ENSP00000354960:R148X	R	-	1	2	GLT25D2	182210904	0.986000	0.35501	0.987000	0.45799	0.996000	0.88848	1.479000	0.35453	2.583000	0.87209	0.650000	0.86243	CGA		0.423	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		14	450	0	0	0	1	0	14	450				
SAMHD1	25939	broad.mit.edu	37	20	35547879	35547879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35547879G>T	ENST00000262878.4	-	7	939	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	247	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATTCCATTAGAATTAATAAG	0.383																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(739-741)tCt>tAt		SAM domain and HD domain 1							95.0	89.0	91.0					20																	35547879		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35547879G>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.740C>A	20.37:g.35547879G>T	ENSP00000262878:p.Ser247Tyr					SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	p.S247Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			7	939	-		Myeloproliferative disorder(115;0.00878)	247			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.740C>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941492	0.73557	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.90004	-2.6;-2.47	5.82	4.87	0.63330	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.452484	0.25625	N	0.029390	D	0.91126	0.7206	L	0.53780	1.695	0.41946	D	0.990633	D	0.55800	0.973	P	0.56343	0.796	D	0.91799	0.5450	10	0.72032	D	0.01	-18.0376	14.9983	0.71451	0.0701:0.0:0.9299:0.0	.	247	Q9Y3Z3	SAMH1_HUMAN	Y	247;32	ENSP00000262878:S247Y;ENSP00000362798:S32Y	ENSP00000262878:S247Y	S	-	2	0	SAMHD1	34981293	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	3.740000	0.55082	2.759000	0.94783	0.557000	0.71058	TCT		0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		39	163	1	0	1.96642e-18	1	2.182e-18	39	163				
KHNYN	23351	broad.mit.edu	37	14	24900668	24900668	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24900668G>T	ENST00000251343.5	+	3	340		c.e3-1		KHNYN_ENST00000556842.1_Splice_Site|KHNYN_ENST00000553935.1_Splice_Site|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTCCCAACCAGGAGTACCTGA	0.562											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.e3-1		KH and NYN domain containing							39.0	34.0	36.0					14																	24900668		2202	4298	6500	SO:0001630	splice_region_variant	23351							g.chr14:24900668G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.202-1G>T	14.37:g.24900668G>T			OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Splice_Site|KHNYN_ENST00000553935.1_Splice_Site				O15037	KHNYN_HUMAN			3	340	+								Q86TZ6|Q8IUQ2|Q96BA9	Splice_Site	SNP	ENST00000251343.5	37		CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764467	0.31228	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6797	0.77357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KHNYN	23970508	1.000000	0.71417	0.992000	0.48379	0.325000	0.28411	7.234000	0.78134	2.383000	0.81215	0.563000	0.77884	.		0.562	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1		Intron	44	168	1	0	5.34276e-22	1	6.03513e-22	44	168				
SMC5	23137	broad.mit.edu	37	9	72965133	72965133	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72965133T>G	ENST00000361138.5	+	23	3051	c.2993T>G	c.(2992-2994)gTt>gGt	p.V998G	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	998	Ala/Asp-rich (DA-box).				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAGAAGTGTTTCTACCATG	0.353																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(2992-2994)gTt>gGt		structural maintenance of chromosomes 5							111.0	111.0	111.0					9																	72965133		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72965133T>G	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2993T>G	9.37:g.72965133T>G	ENSP00000354957:p.Val998Gly					SMC5_ENST00000471372.1_3'UTR	p.V998G	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			23	3051	+			998			Ala/Asp-rich (DA-box).		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.2993T>G	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633552	0.87660	.	.	ENSG00000198887	ENST00000361138	T	0.69926	-0.44	6.07	6.07	0.98685	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86892	0.2049	10	0.72032	D	0.01	-20.4933	16.635	0.85050	0.0:0.0:0.0:1.0	.	998	Q8IY18	SMC5_HUMAN	G	998	ENSP00000354957:V998G	ENSP00000354957:V998G	V	+	2	0	SMC5	72154953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.330000	0.79161	0.477000	0.44152	GTT		0.353	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		17	345	0	0	0	1	0	17	345				
PKN3	29941	broad.mit.edu	37	9	131467678	131467678	+	Missense_Mutation	SNP	C	C	T	rs560359660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131467678C>T	ENST00000291906.4	+	2	514	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	41					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGAGAACCTGCGGCGCGTGGC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		15748	0.0		0.0	False		,,,				2504	0.001					ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(121-123)Cgg>Tgg		protein kinase N3							11.0	10.0	11.0					9																	131467678		2165	4248	6413	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131467678C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.121C>T	9.37:g.131467678C>T	ENSP00000291906:p.Arg41Trp						p.R41W	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			2	514	+			41					Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.121C>T	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116549	0.77323	.	.	ENSG00000160447	ENST00000291906	T	0.19806	2.12	5.18	3.27	0.37495	.	.	.	.	.	T	0.44180	0.1281	M	0.76170	2.325	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.69307	0.95;0.963	T	0.42599	-0.9442	9	0.87932	D	0	.	13.0802	0.59109	0.293:0.707:0.0:0.0	.	41;41	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	W	41	ENSP00000291906:R41W	ENSP00000291906:R41W	R	+	1	2	PKN3	130507499	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	1.467000	0.35321	0.531000	0.28639	0.655000	0.94253	CGG		0.682	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		12	59	0	0	0	1	0	12	59				
TIGD6	81789	broad.mit.edu	37	5	149374485	149374485	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149374485A>C	ENST00000296736.3	-	2	2201	c.1427T>G	c.(1426-1428)cTt>cGt	p.L476R	TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	476						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAACTGTCTAAGTTTCTGTAC	0.388																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(1426-1428)cTt>cGt		tigger transposable element derived 6							100.0	91.0	94.0					5																	149374485		2203	4300	6503	SO:0001583	missense	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149374485A>C	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.1427T>G	5.37:g.149374485A>C	ENSP00000296736:p.Leu476Arg					TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	p.L476R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	2201	-			476					B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	37	c.1427T>G	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364116	0.41902	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.20463	2.07;2.07	4.51	0.74	0.18330	.	0.563343	0.13339	U	0.395337	T	0.22475	0.0542	N	0.24115	0.695	0.22858	N	0.998648	D	0.58620	0.983	P	0.56474	0.799	T	0.12400	-1.0549	10	0.87932	D	0	.	7.6011	0.28077	0.7318:0.0:0.2682:0.0	.	476	Q17RP2	TIGD6_HUMAN	R	476	ENSP00000296736:L476R;ENSP00000425318:L476R	ENSP00000296736:L476R	L	-	2	0	TIGD6	149354678	0.995000	0.38212	0.973000	0.42090	0.828000	0.46876	1.501000	0.35693	0.041000	0.15688	-0.264000	0.10439	CTT		0.388	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		62	296	0	0	0	1	0	62	296				
MAP7D2	256714	broad.mit.edu	37	X	20074873	20074873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20074873G>A	ENST00000379651.3	-	4	427	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	137					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGCTGTGTGCGCTCCAGGGAC	0.557																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(409-411)Cgc>Tgc		MAP7 domain containing 2							99.0	70.0	80.0					X																	20074873		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20074873G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.409C>T	X.37:g.20074873G>A	ENSP00000368972:p.Arg137Cys					MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C	p.R137C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			4	427	-			137					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.409C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426952	0.43122	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324;ENST00000330274	T;T;T;T;T	0.12774	2.65;2.65;3.04;2.65;2.65	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.39517	0.1081	M	0.72479	2.2	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	0.91635	0.92;0.963;0.963;0.999;0.92;0.963	T	0.23440	-1.0188	10	0.87932	D	0	-9.6776	18.3055	0.90179	0.0:0.0:1.0:0.0	.	137;93;137;137;137;8	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17;F5GYC2	.;.;.;.;MA7D2_HUMAN;.	C	137;137;8;137;93;137	ENSP00000368972:R137C;ENSP00000368964:R137C;ENSP00000440691:R8C;ENSP00000388239:R137C;ENSP00000413301:R93C	ENSP00000332677:R137C	R	-	1	0	MAP7D2	19984794	1.000000	0.71417	0.729000	0.30791	0.238000	0.25445	5.118000	0.64673	2.349000	0.79799	0.506000	0.49869	CGC		0.557	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		60	218	0	0	0	1	0	60	218				
STAG3	10734	broad.mit.edu	37	7	99811415	99811415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99811415G>A	ENST00000426455.1	+	33	4062	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1219					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATTCTACAGAGCTGGATAT	0.493																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(3655-3657)Gag>Aag		stromal antigen 3							122.0	115.0	117.0					7																	99811415		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99811415G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3655G>A	7.37:g.99811415G>A	ENSP00000400359:p.Glu1219Lys					GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K|GATS_ENST00000436886.2_Intron	p.E1219K			Q9UJ98	STAG3_HUMAN			33	4062	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		1219					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.3655G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.576279	0.86645	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.0	5.0	0.66597	.	0.000000	0.39544	N	0.001340	T	0.45316	0.1336	L	0.60455	1.87	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70935	0.971;0.971;0.971	T	0.16719	-1.0393	10	0.44086	T	0.13	-20.6421	13.9825	0.64313	0.0:0.0:1.0:0.0	.	1161;1220;1219	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	K	1219;1161;882;240;1219;178	ENSP00000400359:E1219K;ENSP00000377586:E1161K;ENSP00000319318:E1219K;ENSP00000395039:E178K	ENSP00000319318:E1219K	E	+	1	0	STAG3	99649351	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.980000	0.56895	2.741000	0.93983	0.655000	0.94253	GAG		0.493	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		26	490	0	0	0	1	0	26	490				
DEF6	50619	broad.mit.edu	37	6	35285747	35285747	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35285747A>T	ENST00000316637.5	+	6	892	c.887A>T	c.(886-888)gAc>gTc	p.D296V	DEF6_ENST00000542066.1_Missense_Mutation_p.D41V|DEF6_ENST00000468102.1_3'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	296	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGCGCCTCAGACACGCGCCAG	0.612																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(886-888)gAc>gTc		differentially expressed in FDCP 6 homolog (mouse)							45.0	41.0	42.0					6																	35285747		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35285747A>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.887A>T	6.37:g.35285747A>T	ENSP00000319831:p.Asp296Val					DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.D41V	p.D296V	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			6	892	+			296			PH.		Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.887A>T	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	A	34	5.306036	0.95629	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.32988	1.43;2.53	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.987;0.987	T	0.66622	-0.5877	10	0.87932	D	0	-36.6858	13.9142	0.63887	1.0:0.0:0.0:0.0	.	41;296;296	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	V	41;296	ENSP00000442166:D41V;ENSP00000319831:D296V	ENSP00000319831:D296V	D	+	2	0	DEF6	35393725	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.035000	0.60131	0.377000	0.23210	GAC		0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		19	110	0	0	0	1	0	19	110				
IRF2BP1	26145	broad.mit.edu	37	19	46389025	46389025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46389025G>T	ENST00000302165.3	-	1	351	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCCTGCACAGACGCCATGGC	0.731																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(7-9)tCt>tAt		interferon regulatory factor 2 binding protein 1							12.0	11.0	11.0					19																	46389025		2159	4240	6399	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46389025G>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.8C>A	19.37:g.46389025G>T	ENSP00000307265:p.Ser3Tyr						p.S3Y	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	351	-		all_neural(266;0.113)|Ovarian(192;0.127)	3					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.8C>A	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558266	0.65538	.	.	ENSG00000170604	ENST00000302165	T	0.48836	0.8	3.41	1.19	0.21007	.	0.119053	0.36034	U	0.002838	T	0.42988	0.1227	N	0.22421	0.69	0.41761	D	0.989712	D	0.69078	0.997	P	0.59221	0.854	T	0.34675	-0.9819	10	0.62326	D	0.03	.	5.916	0.19055	0.2537:0.0:0.7463:0.0	.	3	Q8IU81	I2BP1_HUMAN	Y	3	ENSP00000307265:S3Y	ENSP00000307265:S3Y	S	-	2	0	IRF2BP1	51080865	1.000000	0.71417	0.292000	0.24919	0.980000	0.70556	6.545000	0.73883	0.260000	0.21731	0.462000	0.41574	TCT		0.731	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		24	56	1	0	4.26978e-12	1	4.57227e-12	24	56				
CATSPERB	79820	broad.mit.edu	37	14	92159477	92159477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92159477C>A	ENST00000256343.3	-	9	980	c.824G>T	c.(823-825)aGc>aTc	p.S275I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	275					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACCGATAAGCTGTGGCGTGA	0.333																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(823-825)aGc>aTc		catsper channel auxiliary subunit beta							96.0	92.0	93.0					14																	92159477		2203	4299	6502	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92159477C>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.824G>T	14.37:g.92159477C>A	ENSP00000256343:p.Ser275Ile						p.S275I	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			9	980	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	275					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.824G>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	5.588	0.293217	0.10567	.	.	ENSG00000133962	ENST00000256343	T	0.44881	0.91	5.08	-10.1	0.00402	.	6.205340	0.00496	N	0.000145	T	0.11707	0.0285	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17018	-1.0383	10	0.26408	T	0.33	15.6753	2.4325	0.04475	0.232:0.0968:0.1437:0.5274	.	275	Q9H7T0	CTSRB_HUMAN	I	275	ENSP00000256343:S275I	ENSP00000256343:S275I	S	-	2	0	CATSPERB	91229230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.323000	0.01117	-1.723000	0.01375	-1.251000	0.01509	AGC		0.333	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		54	323	1	0	5.82388e-19	1	6.47979e-19	54	323				
LARP4	113251	broad.mit.edu	37	12	50848199	50848199	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50848199C>T	ENST00000398473.2	+	10	1232	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	LARP4_ENST00000518561.1_Splice_Site_p.R304C|LARP4_ENST00000522085.1_Splice_Site_p.R374C|LARP4_ENST00000518444.1_Splice_Site_p.R373C|LARP4_ENST00000293618.8_Splice_Site_p.R374W|LARP4_ENST00000429001.3_Splice_Site_p.R380C|LARP4_ENST00000347328.5_Splice_Site_p.R303C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	374					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCAAAAAAATCGGTAAGATAA	0.348																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.e10+1		La ribonucleoprotein domain family, member 4							77.0	68.0	71.0					12																	50848199		1814	4070	5884	SO:0001630	splice_region_variant	113251						nucleotide binding|RNA binding	g.chr12:50848199C>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1121+1C>T	12.37:g.50848199C>T						LARP4_ENST00000429001.3_Splice_Site_p.R380_splice|LARP4_ENST00000518561.1_Splice_Site_p.R304_splice|LARP4_ENST00000522085.1_Splice_Site_p.R374_splice|LARP4_ENST00000347328.5_Splice_Site_p.R303_splice|LARP4_ENST00000293618.8_Splice_Site_p.R374_splice|LARP4_ENST00000518444.1_Splice_Site_p.R373_splice	p.R374_splice	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			10	1232	+			374					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Splice_Site	SNP	ENST00000398473.2	37	c.1121_splice	CCDS41782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908793|2.908793	0.52439|0.52439	.|.	.|.	ENSG00000161813|ENSG00000161813	ENST00000429001;ENST00000398473;ENST00000522085;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328|ENST00000293618	T;T;T;T;T;T|T	0.36157|0.34667	1.27;1.27;1.27;1.27;1.27;1.33|1.35	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51500|0.51500	0.1678|0.1678	L|L	0.40543|0.40543	1.245|1.245	0.40960|0.40960	D|D	0.984616|0.984616	B;B;D;B;B|D	0.89917|0.89917	0.354;0.027;1.0;0.146;0.202|1.0	B;B;D;B;B|D	0.80764|0.80764	0.139;0.021;0.994;0.064;0.038|0.994	T|T	0.58115|0.58115	-0.7693|-0.7693	10|10	0.39692|0.66056	T|D	0.17|0.02	.|.	16.9745|16.9745	0.86309|0.86309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275;373;303;374;380|374	Q71RC2-2;Q71RC2-3;G5E976;Q71RC2;Q71RC2-4|G3XAA8	.;.;.;LARP4_HUMAN;.|.	C|W	380;374;374;373;304;275;303|374	ENSP00000415464:R380C;ENSP00000381490:R374C;ENSP00000429781:R374C;ENSP00000429077:R373C;ENSP00000430851:R304C;ENSP00000340901:R303C|ENSP00000293618:R374W	ENSP00000340901:R303C|ENSP00000293618:R374W	R|R	+|+	1|1	0|2	LARP4|LARP4	49134466|49134466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.805000|0.805000	0.45488|0.45488	5.474000|5.474000	0.66781|0.66781	2.174000|2.174000	0.68829|0.68829	0.485000|0.485000	0.47835|0.47835	CGT|CGG		0.348	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	Missense_Mutation	23	184	0	0	0	1	0	23	184				
PRKG2	5593	broad.mit.edu	37	4	82065465	82065465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:82065465C>T	ENST00000395578.1	-	10	1290	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	392					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.G392C(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAAATGTACCGACAGTTTGG	0.378																																						ENST00000395578.1																			2	Substitution - Missense(2)	p.G392C(2)	lung(2)	NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1174-1176)Ggt>Agt		protein kinase, cGMP-dependent, type II							146.0	136.0	139.0					4																	82065465		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82065465C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1174G>A	4.37:g.82065465C>T	ENSP00000378945:p.Gly392Ser					PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR	p.G392S			Q13237	KGP2_HUMAN			10	1290	-			392					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1174G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711059	0.68730	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.92495	-3.05;-3.05;-3.05	5.31	5.31	0.75309	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.67900	0.924;0.954	D	0.94558	0.7760	10	0.44086	T	0.13	-25.4218	18.9359	0.92584	0.0:1.0:0.0:0.0	.	392;392	E7EPE6;Q13237	.;KGP2_HUMAN	S	392	ENSP00000378945:G392S;ENSP00000264399:G392S;ENSP00000389038:G392S	ENSP00000264399:G392S	G	-	1	0	PRKG2	82284489	1.000000	0.71417	0.962000	0.40283	0.516000	0.34256	7.010000	0.76353	2.640000	0.89533	0.655000	0.94253	GGT		0.378	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		21	445	0	0	0	1	0	21	445				
C19orf12	83636	broad.mit.edu	37	19	30193830	30193830	+	Missense_Mutation	SNP	G	G	A	rs201987973		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30193830G>A	ENST00000392278.2	-	3	374	c.248C>T	c.(247-249)cCg>cTg	p.P83L	C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L|C19orf12_ENST00000323670.9_Missense_Mutation_p.P72L|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	83			P -> L (in NBIA4; dbSNP:rs201987973). {ECO:0000269|PubMed:23269600}.		cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CTGAGGAACCGGCTTAAACTG	0.557																																						ENST00000323670.9																			0											c.(214-216)cCg>cTg		chromosome 19 open reading frame 12							92.0	92.0	92.0					19																	30193830		2203	4300	6503	SO:0001583	missense	83636					integral to membrane		g.chr19:30193830G>A	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.248C>T	19.37:g.30193830G>A	ENSP00000376103:p.Pro83Leu					C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Missense_Mutation_p.P83L|C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L	p.P72L	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		3	354	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		72					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	37	c.215C>T	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173517	0.57584	.	.	ENSG00000131943	ENST00000323670;ENST00000392276;ENST00000392275;ENST00000392278;ENST00000342680	D;D;D	0.82433	-1.61;-1.61;-1.61	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.958;0.995	D	0.93199	0.6590	10	0.87932	D	0	-11.7687	17.7183	0.88344	0.0:0.0:1.0:0.0	.	72;83	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	L	72;8;8;83;72	ENSP00000313332:P72L;ENSP00000376102:P8L;ENSP00000376103:P83L	ENSP00000313332:P72L	P	-	2	0	C19orf12	34885670	1.000000	0.71417	0.911000	0.35937	0.422000	0.31414	9.057000	0.93889	2.435000	0.82474	0.591000	0.81541	CCG		0.557	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		109	602	0	0	0	1	0	109	602				
FCGBP	8857	broad.mit.edu	37	19	40368526	40368526	+	Silent	SNP	G	G	A	rs572540106	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4274	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657													G|||	3	0.000599042	0.0	0.0	5008	,	,		15797	0.003		0.0	False		,,,				2504	0.0					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12820-12822)taC>taT		Fc fragment of IgG binding protein							44.0	45.0	45.0					19																	40368526		2203	4294	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368526G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12822C>T	19.37:g.40368526G>A							p.Y4274Y	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12829	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4274			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12822C>T	CCDS12546.1																																																																																				0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	352	0	0	0	1	0	17	352				
TACC2	10579	broad.mit.edu	37	10	123842859	123842859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842859G>A	ENST00000369005.1	+	4	1184	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TACC2_ENST00000515603.1_Missense_Mutation_p.A282T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T|TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	282					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAAGATCCAGCCCCAAGAGC	0.602																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(844-846)Gcc>Acc		transforming, acidic coiled-coil containing protein 2							55.0	66.0	62.0					10																	123842859		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842859G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.844G>A	10.37:g.123842859G>A	ENSP00000358001:p.Ala282Thr					TACC2_ENST00000515603.1_Missense_Mutation_p.A282T|TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T	p.A282T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	1184	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	282					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.844G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505395	0.64410	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05319	3.57;3.49;3.46;3.57;3.49	5.57	2.68	0.31781	.	1.115670	0.07049	N	0.831536	T	0.04679	0.0127	N	0.17082	0.46	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.197	B;B;B	0.21708	0.036;0.036;0.036	T	0.43180	-0.9407	10	0.72032	D	0.01	-1.2979	5.5878	0.17283	0.1646:0.0:0.677:0.1584	.	282;282;282	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	282;282;282;282;282;272	ENSP00000358001:A282T;ENSP00000424467:A282T;ENSP00000427618:A282T;ENSP00000334280:A282T;ENSP00000395048:A282T	ENSP00000334280:A282T	A	+	1	0	TACC2	123832849	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.204000	0.17335	0.292000	0.22492	0.555000	0.69702	GCC		0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			109	601	0	0	0	1	0	109	601				
USP4	7375	broad.mit.edu	37	3	49348051	49348051	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49348051A>G	ENST00000265560.4	-	8	1001		c.e8+1		USP4_ENST00000488520.1_Splice_Site|USP4_ENST00000351842.4_Splice_Site	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)						negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCTCTCCTCTACCTGCAAAGC	0.507																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.e7+1		ubiquitin specific peptidase 4 (proto-oncogene)							169.0	152.0	157.0					3																	49348051		2203	4300	6503	SO:0001630	splice_region_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49348051A>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.954+1T>C	3.37:g.49348051A>G						USP4_ENST00000488520.1_Splice_Site|USP4_ENST00000265560.4_Splice_Site		NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	7	822	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)						A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Splice_Site	SNP	ENST00000265560.4	37		CCDS2793.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869437	0.51588	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000431357	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3007	0.66346	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP4	49323055	1.000000	0.71417	0.992000	0.48379	0.384000	0.30261	9.100000	0.94213	2.059000	0.61396	0.402000	0.26972	.		0.507	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443	Intron	66	323	0	0	0	1	0	66	323				
SIPA1L3	23094	broad.mit.edu	37	19	38610224	38610224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610224C>T	ENST00000222345.6	+	9	3079	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	857					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGGAAAAGACAAAAGCACGG	0.577																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2569-2571)aCa>aTa		signal-induced proliferation-associated 1 like 3							64.0	65.0	65.0					19																	38610224		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610224C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2570C>T	19.37:g.38610224C>T	ENSP00000222345:p.Thr857Ile						p.T857I	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3079	+			857					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2570C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898448	0.33535	.	.	ENSG00000105738	ENST00000222345	T	0.46819	0.86	5.75	5.75	0.90469	.	0.236566	0.43747	D	0.000533	T	0.36193	0.0958	N	0.24115	0.695	0.38592	D	0.950444	B	0.28998	0.23	B	0.24394	0.053	T	0.16988	-1.0384	10	0.27082	T	0.32	-19.2917	18.7237	0.91705	0.0:1.0:0.0:0.0	.	857	O60292	SI1L3_HUMAN	I	857	ENSP00000222345:T857I	ENSP00000222345:T857I	T	+	2	0	SIPA1L3	43302064	0.031000	0.19500	0.987000	0.45799	0.937000	0.57800	1.188000	0.32102	2.725000	0.93324	0.655000	0.94253	ACA		0.577	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		58	263	0	0	0	1	0	58	263				
LAMC2	3918	broad.mit.edu	37	1	183194779	183194779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183194779G>T	ENST00000264144.4	+	8	1055	c.990G>T	c.(988-990)caG>caT	p.Q330H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q330H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	330	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGAGCCCCCAGCTGAGTTACT	0.393																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(988-990)caG>caT		laminin, gamma 2							108.0	119.0	115.0					1																	183194779		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183194779G>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.990G>T	1.37:g.183194779G>T	ENSP00000264144:p.Gln330His					LAMC2_ENST00000493293.1_Missense_Mutation_p.Q330H	p.Q330H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			8	1055	+			330			Laminin IV type A.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.990G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872561	0.33069	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.36699	1.24;1.24	5.06	4.14	0.48551	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.395784	0.24094	N	0.041619	T	0.27205	0.0667	L	0.37630	1.12	0.46260	D	0.99895	B;B;B	0.20550	0.046;0.046;0.037	B;B;B	0.23018	0.043;0.042;0.025	T	0.05784	-1.0864	10	0.35671	T	0.21	.	8.4894	0.33091	0.0775:0.0:0.7704:0.1521	.	330;330;330	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	H	330	ENSP00000432063:Q330H;ENSP00000264144:Q330H	ENSP00000264144:Q330H	Q	+	3	2	LAMC2	181461402	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.743000	0.47442	1.124000	0.41980	-0.136000	0.14681	CAG		0.393	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		13	790	1	0	0.0167234	1	0.0167961	13	790				
MYLK	4638	broad.mit.edu	37	3	123339123	123339123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123339123G>T	ENST00000475616.1	-	29	5298	c.5299C>A	c.(5299-5301)Ctc>Atc	p.L1767I	MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK_ENST00000360772.3_Missense_Mutation_p.L1716I			Q15746	MYLK_HUMAN	myosin light chain kinase	1767	Calmodulin-binding.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGCCACTGAGCCCTGAGATC	0.517																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5146-5148)Ctc>Atc		myosin light chain kinase							221.0	215.0	217.0					3																	123339123		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123339123G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5299C>A	3.37:g.123339123G>T	ENSP00000418335:p.Leu1767Ile					MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK_ENST00000475616.1_Missense_Mutation_p.L1767I|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I|MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK-AS1_ENST00000470449.1_RNA	p.L1716I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	32	5524	-		Lung NSC(201;0.0496)	1767			Calmodulin-binding.|Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5146C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629067	0.46944	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.67345	-0.19;-0.26;-0.19;0.16;-0.25;-0.02;-0.26	5.24	5.24	0.73138	Protein kinase-like domain (1);	.	.	.	.	T	0.50429	0.1615	N	0.12182	0.205	0.33631	D	0.60607	B;P;B;P;B;B	0.43578	0.295;0.811;0.259;0.68;0.195;0.012	B;B;B;B;B;B	0.40534	0.132;0.332;0.099;0.21;0.062;0.002	T	0.62348	-0.6873	9	0.36615	T	0.2	.	14.8475	0.70270	0.0:0.0:0.8475:0.1524	.	1767;1647;1716;1698;1767;80	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	I	1716;1767;1716;7;1698;567;1767	ENSP00000354004:L1716I;ENSP00000353452:L1767I;ENSP00000352088:L1716I;ENSP00000428967:L7I;ENSP00000320622:L1698I;ENSP00000346846:L567I;ENSP00000418335:L1767I	ENSP00000320622:L1698I	L	-	1	0	MYLK	124821813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.449000	0.52950	2.720000	0.93068	0.557000	0.71058	CTC		0.517	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		201	923	1	0	8.23634e-74	1	1.04889e-73	201	923				
MICAL1	64780	broad.mit.edu	37	6	109775336	109775336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109775336G>T	ENST00000358807.3	-	2	375	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M|MICAL1_ENST00000368952.4_Missense_Mutation_p.L41M|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	22	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCCTGGCACAGCTGGGCCTGC	0.652																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(121-123)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 1							27.0	26.0	26.0					6																	109775336		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109775336G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.64C>A	6.37:g.109775336G>T	ENSP00000351664:p.Leu22Met					MICAL1_ENST00000358807.3_Missense_Mutation_p.L22M|MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M	p.L41M			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	2	411	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	22					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.121C>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648733	0.67358	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.22336	1.96;3.28;1.96;1.96	5.17	3.38	0.38709	.	1.141450	0.06566	N	0.747538	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	0.999998	D;P;P	0.53619	0.961;0.672;0.543	P;B;B	0.46110	0.504;0.408;0.231	T	0.27606	-1.0069	10	0.72032	D	0.01	.	6.0299	0.19675	0.0871:0.0:0.5772:0.3358	.	41;22;22	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	22;41;22;22	ENSP00000351664:L22M;ENSP00000357948:L41M;ENSP00000351385:L22M;ENSP00000407075:L22M	ENSP00000351385:L22M	L	-	1	2	MICAL1	109882029	0.822000	0.29219	0.996000	0.52242	0.996000	0.88848	1.562000	0.36353	0.741000	0.32674	0.561000	0.74099	CTG		0.652	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		35	126	1	0	9.78485e-24	1	1.11444e-23	35	126				
LIMS2	55679	broad.mit.edu	37	2	128412001	128412001	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128412001C>T	ENST00000355119.4	-	4	521	c.356G>A	c.(355-357)gGc>gAc	p.G119D	LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000409455.1_Missense_Mutation_p.G114D|LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	119	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ACCTCACCTGCCGGCATTCTT	0.632																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(340-342)gGc>gAc		LIM and senescent cell antigen-like domains 2							88.0	84.0	86.0					2																	128412001		2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128412001C>T	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.356G>A	2.37:g.128412001C>T	ENSP00000347240:p.Gly119Asp					LIMS2_ENST00000355119.4_Missense_Mutation_p.G119D|LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D	p.G114D			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	4	976	-	Colorectal(110;0.1)		119			LIM zinc-binding 2.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.341G>A	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	19.29	3.799268	0.70567	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.37	5.37	0.77165	Zinc finger, LIM-type (4);	0.106914	0.64402	D	0.000004	D	0.92678	0.7673	M	0.63428	1.95	0.80722	D	1	P;D;D	0.63046	0.875;0.983;0.992	P;P;P	0.59357	0.614;0.836;0.856	D	0.92089	0.5679	10	0.44086	T	0.13	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	141;119;143	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	D	141;119;143;114;114;114;114;141;114	ENSP00000443794:G141D;ENSP00000347240:G119D;ENSP00000326888:G143D;ENSP00000386383:G114D;ENSP00000386637:G114D;ENSP00000387002:G114D	ENSP00000326888:G143D	G	-	2	0	LIMS2	128128471	1.000000	0.71417	0.909000	0.35828	0.102000	0.19082	5.983000	0.70540	2.523000	0.85059	0.609000	0.83330	GGC		0.632	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		90	415	0	0	0	1	0	90	415				
ERN1	2081	broad.mit.edu	37	17	62135346	62135346	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62135346T>C	ENST00000433197.3	-	12	1309	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GTCAACCAGGTTGATAACCTT	0.552																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1213-1215)aAc>aGc		endoplasmic reticulum to nucleus signaling 1							41.0	44.0	43.0					17																	62135346		2019	4170	6189	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62135346T>C	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1214A>G	17.37:g.62135346T>C	ENSP00000401445:p.Asn405Ser						p.N405S	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			12	1309	-			405						Missense_Mutation	SNP	ENST00000433197.3	37	c.1214A>G	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	T	4.678	0.126002	0.08931	.	.	ENSG00000178607	ENST00000433197	T	0.58652	0.32	5.37	4.29	0.51040	.	0.969624	0.08586	N	0.923812	T	0.41166	0.1147	L	0.27053	0.805	0.27736	N	0.944656	B	0.02656	0.0	B	0.01281	0.0	T	0.32025	-0.9922	10	0.07644	T	0.81	-17.115	8.4424	0.32822	0.0:0.1505:0.0:0.8495	.	405	O75460	ERN1_HUMAN	S	405	ENSP00000401445:N405S	ENSP00000401445:N405S	N	-	2	0	ERN1	59489078	0.991000	0.36638	0.995000	0.50966	0.615000	0.37417	0.906000	0.28517	0.878000	0.35920	-0.379000	0.06801	AAC		0.552	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		14	32	0	0	0	1	0	14	32				
CCNO	10309	broad.mit.edu	37	5	54527253	54527253	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527253G>T	ENST00000282572.4	-	3	1159	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	335					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TGAACGGGCAGCATGTGAGTC	0.582																																						ENST00000282572.4																			0				endometrium(1)|lung(3)|skin(1)	5						c.(1003-1005)Ctg>Atg		cyclin O							70.0	71.0	71.0					5																	54527253		2203	4300	6503	SO:0001583	missense	10309				cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	g.chr5:54527253G>T	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.1003C>A	5.37:g.54527253G>T	ENSP00000282572:p.Leu335Met						p.L335M	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		3	1159	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	335					A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	c.1003C>A	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819454	0.50633	.	.	ENSG00000152669	ENST00000282572	T	0.26518	1.73	5.7	1.29	0.21616	.	0.215519	0.37095	N	0.002246	T	0.35451	0.0932	L	0.50333	1.59	0.32880	D	0.510423	D	0.56968	0.978	P	0.61940	0.896	T	0.44620	-0.9316	10	0.59425	D	0.04	.	7.2781	0.26296	0.2535:0.0:0.6241:0.1224	.	335	P22674	CCNO_HUMAN	M	335	ENSP00000282572:L335M	ENSP00000282572:L335M	L	-	1	2	CCNO	54563010	0.981000	0.34729	0.998000	0.56505	0.615000	0.37417	1.260000	0.32968	0.322000	0.23283	0.561000	0.74099	CTG		0.582	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		57	306	1	0	6.4308e-24	1	7.32928e-24	57	306				
SYT8	90019	broad.mit.edu	37	11	1856331	1856331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1856331G>A	ENST00000381968.3	+	2	166	c.38G>A	c.(37-39)aGa>aAa	p.R13K	SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000341958.3_5'UTR|SYT8_ENST00000535046.1_Missense_Mutation_p.R151K	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	13					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCAGGGTAGAAAGATGGGG	0.662																																						ENST00000535046.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(451-453)aGa>aAa		synaptotagmin VIII							35.0	42.0	40.0					11																	1856331		2202	4299	6501	SO:0001583	missense	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1856331G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.38G>A	11.37:g.1856331G>A	ENSP00000371394:p.Arg13Lys					SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.R13K|SYT8_ENST00000341958.3_5'UTR	p.R151K			Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	2	452	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	13			C2 1.		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	c.452G>A	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	g	0.664	-0.804557	0.02819	.	.	ENSG00000149043	ENST00000535046;ENST00000381968	T;T	0.19105	2.17;2.99	2.81	-1.95	0.07548	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	0.999997	B	0.09022	0.002	B	0.08055	0.003	T	0.36529	-0.9744	9	0.06236	T	0.91	.	0.5351	0.00635	0.4009:0.181:0.2354:0.1826	.	13	Q8NBV8	SYT8_HUMAN	K	151;13	ENSP00000443325:R151K;ENSP00000371394:R13K	ENSP00000371394:R13K	R	+	2	0	SYT8	1812907	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.184000	0.03076	-0.417000	0.07461	0.305000	0.20034	AGA		0.662	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			6	305	0	0	0	1	0	6	305				
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																						ENST00000368148.3																			1	Substitution - Nonsense(1)	p.R891*(1)	endometrium(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2671-2673)Cga>Tga		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							175.0	172.0	173.0					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627401G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R891*	p.R891*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2851	-	all_hematologic(112;0.0378)		891					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2671C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		251	632	0	0	0	1	0	251	632				
DMRTC2	63946	broad.mit.edu	37	19	42352907	42352907	+	Silent	SNP	G	G	A	rs570158158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42352907G>A	ENST00000269945.3	+	5	543	c.492G>A	c.(490-492)tcG>tcA	p.S164S	DMRTC2_ENST00000596827.1_Silent_p.S164S	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	164	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGGAAGCCTCGCCCTTGTCCT	0.647																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(490-492)tcG>tcA		DMRT-like family C2							84.0	92.0	89.0					19																	42352907		2203	4300	6503	SO:0001819	synonymous_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42352907G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.492G>A	19.37:g.42352907G>A						DMRTC2_ENST00000596827.1_Silent_p.S164S	p.S164S	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			5	543	+			164			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	c.492G>A	CCDS33034.1																																																																																				0.647	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		288	624	0	0	0	1	0	288	624				
GPR158	57512	broad.mit.edu	37	10	25886972	25886972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25886972C>T	ENST00000376351.3	+	11	2776	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	806					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGGAGGAGACCCTGAAAAAC	0.542																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2416-2418)aCc>aTc		G protein-coupled receptor 158							85.0	94.0	91.0					10																	25886972		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886972C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2417C>T	10.37:g.25886972C>T	ENSP00000365529:p.Thr806Ile					GPR158_ENST00000490549.1_3'UTR	p.T806I	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2776	+			806					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2417C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881938	0.33255	.	.	ENSG00000151025	ENST00000376351	T	0.61742	0.08	5.78	4.87	0.63330	.	0.403301	0.23426	N	0.048316	T	0.51839	0.1698	L	0.34521	1.04	0.19945	N	0.99994	B	0.19935	0.04	B	0.22880	0.042	T	0.42616	-0.9441	10	0.49607	T	0.09	.	19.1354	0.93426	0.1171:0.8828:0.0:0.0	.	806	Q5T848	GP158_HUMAN	I	806	ENSP00000365529:T806I	ENSP00000365529:T806I	T	+	2	0	GPR158	25926978	0.976000	0.34144	1.000000	0.80357	0.478000	0.33099	4.658000	0.61497	0.792000	0.33850	-0.824000	0.03097	ACC		0.542	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		109	488	0	0	0	1	0	109	488				
COL11A1	1301	broad.mit.edu	37	1	103496747	103496747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103496747G>T	ENST00000370096.3	-	5	1017	c.705C>A	c.(703-705)taC>taA	p.Y235*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Y235*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	235	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATGCTCACAGTAGTCATATG	0.453																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(703-705)taC>taA		collagen, type XI, alpha 1							104.0	92.0	97.0					1																	103496747		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496747G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.705C>A	1.37:g.103496747G>T	ENSP00000359114:p.Tyr235*					COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Y235*	p.Y235*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	5	1022	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	235			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.705C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	38	6.717392	0.97784	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	.	.	.	5.59	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.568	0.33552	0.1728:0.0:0.8272:0.0	.	.	.	.	X	235;235;235;235;235;162	.	ENSP00000302551:Y235X	Y	-	3	2	COL11A1	103269335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.964000	0.70379	2.631000	0.89168	0.551000	0.68910	TAC		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		34	137	1	0	1.07637e-12	1	1.15814e-12	34	137				
KIAA1614	57710	broad.mit.edu	37	1	180905169	180905169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180905169G>T	ENST00000367588.4	+	5	2179	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	708										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AAGATGCCAAGCCTCCTGACC	0.572																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2122-2124)aaG>aaT		KIAA1614							92.0	98.0	96.0					1																	180905169		1997	4178	6175	SO:0001583	missense	57710							g.chr1:180905169G>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2124G>T	1.37:g.180905169G>T	ENSP00000356560:p.Lys708Asn					KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	p.K708N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	2179	+			708					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.2124G>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120431	0.37436	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25085	2.4;1.82	4.1	1.11	0.20524	.	0.967631	0.08516	N	0.934229	T	0.15305	0.0369	L	0.27053	0.805	0.22745	N	0.998786	B	0.24258	0.1	B	0.17433	0.018	T	0.30179	-0.9987	9	0.39692	T	0.17	-4.2637	3.0132	0.06051	0.1042:0.1763:0.5377:0.1818	.	708	Q5VZ46	K1614_HUMAN	N	708;329	ENSP00000356560:K708N;ENSP00000356559:K329N	ENSP00000356559:K329N	K	+	3	2	KIAA1614	179171792	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.504000	0.22626	0.045000	0.15804	-1.086000	0.02197	AAG		0.572	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		142	623	1	0	2.93227e-69	1	3.72104e-69	142	623				
LGALS9	3965	broad.mit.edu	37	17	25970635	25970635	+	Missense_Mutation	SNP	C	C	T	rs199701061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25970635C>T	ENST00000395473.2	+	5	1997	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C|LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000310394.5_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	177					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCCCAGGGGGCGCAGACAAAA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17840	0.0		0.0	False		,,,				2504	0.0				Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(529-531)Cgc>Tgc		lectin, galactoside-binding, soluble, 9		C	,CYS/ARG	0,4406		0,0,2203	25.0	24.0	24.0		,529	-1.2	0.8	17		24	2,8590	1.2+/-3.3	0,2,4294	no	intron,missense	LGALS9	NM_002308.3,NM_009587.2	,180	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	,probably-damaging	,177/356	25970635	2,12996	2203	4296	6499	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25970635C>T	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.529C>T	17.37:g.25970635C>T	ENSP00000378856:p.Arg177Cys					LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C	p.R177C	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	5	1997	+	Lung NSC(42;0.0103)		177					A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.529C>T	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242970	0.39697	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000413914	T;T	0.15139	3.91;2.45	3.53	-1.16	0.09678	.	1.136550	0.06577	N	0.749601	T	0.15478	0.0373	L	0.27053	0.805	0.26432	N	0.975927	D;D	0.76494	0.999;0.998	P;P	0.51229	0.663;0.644	T	0.19712	-1.0297	10	0.62326	D	0.03	.	2.7707	0.05333	0.204:0.4368:0.0:0.3592	.	120;177	B4DWP7;O00182	.;LEG9_HUMAN	C	177;120	ENSP00000378856:R177C;ENSP00000393695:R120C	ENSP00000378856:R177C	R	+	1	0	LGALS9	22994762	0.002000	0.14202	0.773000	0.31616	0.631000	0.37964	-0.535000	0.06142	0.029000	0.15352	-0.201000	0.12746	CGC		0.617	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		26	175	0	0	0	1	0	26	175				
TTN	7273	broad.mit.edu	37	2	179589098	179589098	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179589098T>C	ENST00000591111.1	-	70	20277	c.20053A>G	c.(20053-20055)Atc>Gtc	p.I6685V	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I7002V|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V			Q8WZ42	TITIN_HUMAN	titin	12286	Ig-like 48.				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)			AAGGAAGAGATTTTGTTGTAG	0.443																																						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.(21004-21006)Atc>Gtc		titin							94.0	90.0	91.0					2																	179589098		1896	4122	6018	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179589098T>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.20053A>G	2.37:g.179589098T>C	ENSP00000465570:p.Ile6685Val					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I6685V	p.I7002V	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)		72	21228	-			6685					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.21004A>G		.	.	.	.	.	.	.	.	.	.	T	11.39	1.625350	0.28889	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.02	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38719	0.1051	N	0.02665	-0.54	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14643	-1.0465	9	0.87932	D	0	.	7.861	0.29509	0.0:0.6856:0.0:0.3144	.	6685	Q8WZ42	TITIN_HUMAN	V	5758	ENSP00000343764:I5758V	ENSP00000343764:I5758V	I	-	1	0	TTN	179297343	0.965000	0.33210	1.000000	0.80357	0.993000	0.82548	0.739000	0.26173	0.192000	0.20272	-0.274000	0.10170	ATC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		59	280	0	0	0	1	0	59	280				
AHNAK2	113146	broad.mit.edu	37	14	105416177	105416177	+	Missense_Mutation	SNP	G	G	T	rs374130169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105416177G>T	ENST00000333244.5	-	7	5730	c.5611C>A	c.(5611-5613)Ctc>Atc	p.L1871I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1871						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAATGCAGAGGTCCGTGGTC	0.662																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5611-5613)Ctc>Atc		AHNAK nucleoprotein 2		G	ILE/LEU	0,3884		0,0,1942	108.0	126.0	120.0		5611	-2.0	0.0	14		120	3,8199		0,3,4098	no	missense	AHNAK2	NM_138420.2	5	0,3,6040	TT,TG,GG		0.0366,0.0,0.0248	benign	1871/5796	105416177	3,12083	1942	4101	6043	SO:0001583	missense	113146					nucleus		g.chr14:105416177G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5611C>A	14.37:g.105416177G>T	ENSP00000353114:p.Leu1871Ile					AHNAK2_ENST00000557457.1_Intron	p.L1871I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5730	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1871					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5611C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	5.472	0.272207	0.10349	0.0	3.66E-4	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.92	-2.04	0.07343	.	.	.	.	.	T	0.01189	0.0039	M	0.64997	1.995	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.32851	-0.9891	9	0.32370	T	0.25	-7.9399	13.4204	0.60994	0.0:0.4768:0.4255:0.0977	.	1871	Q8IVF2	AHNK2_HUMAN	I	1871	ENSP00000353114:L1871I	ENSP00000353114:L1871I	L	-	1	0	AHNAK2	104487222	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.726000	0.04895	-0.255000	0.11280	CTC		0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		251	1115	1	0	5.16297e-93	1	6.63302e-93	251	1115				
CHSY3	337876	broad.mit.edu	37	5	129244046	129244046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129244046C>A	ENST00000305031.4	+	2	1437	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y	CTC-575N7.1_ENST00000515569.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	360					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGTGTCTGGTCTTACGAGGTA	0.428																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1078-1080)tCt>tAt		chondroitin sulfate synthase 3							151.0	134.0	140.0					5																	129244046		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129244046C>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1079C>A	5.37:g.129244046C>A	ENSP00000302629:p.Ser360Tyr					CHSY3_ENST00000507545.1_3'UTR	p.S360Y	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	2	1437	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	360					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1079C>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399658	0.83120	.	.	ENSG00000198108	ENST00000305031	D	0.85013	-1.93	4.22	4.22	0.49857	.	0.205916	0.24662	N	0.036634	D	0.89511	0.6736	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.53722	0.733	D	0.89718	0.3917	9	.	.	.	0.0434	17.8917	0.88874	0.0:1.0:0.0:0.0	.	360	Q70JA7	CHSS3_HUMAN	Y	360	ENSP00000302629:S360Y	.	S	+	2	0	CHSY3	129271945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.609000	0.82925	2.645000	0.89757	0.591000	0.81541	TCT		0.428	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		47	188	1	0	1.6237e-14	1	1.76477e-14	47	188				
PRB2	653247	broad.mit.edu	37	12	11546844	11546844	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11546844C>A	ENST00000389362.4	-	3	203	c.168G>T	c.(166-168)aaG>aaT	p.K56N	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	56	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.567																																						ENST00000389362.4																			2	Unknown(1)|Deletion - In frame(1)	p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)	stomach(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(166-168)aaG>aaT		proline-rich protein BstNI subfamily 2							128.0	144.0	138.0					12																	11546844		2166	4280	6446	SO:0001583	missense	653247							g.chr12:11546844C>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.168G>T	12.37:g.11546844C>A	ENSP00000374013:p.Lys56Asn					PRB1_ENST00000546254.1_Intron	p.K56N	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	203	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.168G>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	2.222	-0.378164	0.05000	.	.	ENSG00000121335	ENST00000389362	T	0.04502	3.61	2.0	-4.01	0.04045	.	.	.	.	.	T	0.03095	0.0091	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43278	-0.9401	9	0.48119	T	0.1	.	0.4531	0.00504	0.2431:0.1483:0.3146:0.2939	.	56	P02812	PRB2_HUMAN	N	56	ENSP00000374013:K56N	ENSP00000374013:K56N	K	-	3	2	PRB2	11438111	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.841000	0.01683	-1.813000	0.01226	-1.753000	0.00675	AAG		0.567	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		63	1368	1	0	1.30897e-18	1	1.45408e-18	63	1368				
IL6R	3570	broad.mit.edu	37	1	154420626	154420626	+	Silent	SNP	C	C	T	rs372039120		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154420626C>T	ENST00000368485.3	+	7	1412	c.975C>T	c.(973-975)aaC>aaT	p.N325N	IL6R_ENST00000344086.4_Silent_p.N325N|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	325					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CAGCTGAGAACGAGGTGTCCA	0.542																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(973-975)aaC>aaT		interleukin 6 receptor		C	,	0,4406		0,0,2203	108.0	107.0	107.0		975,975	-7.9	0.0	1		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL6R	NM_000565.3,NM_181359.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	325/469,325/366	154420626	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154420626C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.975C>T	1.37:g.154420626C>T						IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Silent_p.N325N	p.N325N	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		7	1412	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		325					A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	c.975C>T	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	C	2.700	-0.271183	0.05716	0.0	1.16E-4	ENSG00000160712	ENST00000476006;ENST00000515190	.	.	.	3.96	-7.93	0.01156	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15263	-1.0443	4	.	.	.	0.1431	7.4401	0.27179	0.0:0.2439:0.4064:0.3497	.	.	.	.	M	264;128	.	.	T	+	2	0	IL6R	152687250	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.845000	0.00735	-2.316000	0.00645	-0.819000	0.03115	ACG		0.542	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		17	526	0	0	0	1	0	17	526				
CEP57	9702	broad.mit.edu	37	11	95555146	95555146	+	Intron	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95555146T>G	ENST00000325542.5	+	7	1045				CEP57_ENST00000537677.1_Intron|CEP57_ENST00000541150.1_Intron|CEP57_ENST00000325486.5_Intron|CEP57_ENST00000538658.1_Nonstop_Mutation_p.*271G	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa						fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAAAAGGTGTGAAGACAGAA	0.358									Mosaic Variegated Aneuploidy Syndrome																													ENST00000538658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(811-813)Tga>Gga		centrosomal protein 57kDa							41.0	39.0	40.0					11																	95555146		2201	4298	6499	SO:0001627	intron_variant	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95555146T>G	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.807+4T>G	11.37:g.95555146T>G						CEP57_ENST00000541150.1_Intron|CEP57_ENST00000325542.5_Intron|CEP57_ENST00000537677.1_Intron|CEP57_ENST00000325486.5_Intron	p.*271G			Q86XR8	CEP57_HUMAN			7	851	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	0					A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Nonstop_Mutation	SNP	ENST00000325542.5	37	c.811T>G	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	T	6.641	0.486791	0.12641	.	.	ENSG00000166037	ENST00000538658	.	.	.	4.67	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3637	0.21443	0.1574:0.0:0.1644:0.6782	.	.	.	.	G	271	.	.	X	+	1	0	CEP57	95194794	0.993000	0.37304	0.973000	0.42090	0.424000	0.31475	0.422000	0.21296	0.478000	0.27488	0.528000	0.53228	TGA		0.358	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		14	91	0	0	0	1	0	14	91				
TMEM110	375346	broad.mit.edu	37	3	52877775	52877775	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877775G>T	ENST00000355083.5	-	6	725	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M|TMEM110_ENST00000464769.1_5'Flank	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	194						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ACGATGGCCAGCTTCAAGTCT	0.532																																						ENST00000355083.5																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(580-582)Ctg>Atg		transmembrane protein 110							178.0	157.0	164.0					3																	52877775		2203	4300	6503	SO:0001583	missense	375346							g.chr3:52877775G>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.580C>A	3.37:g.52877775G>T	ENSP00000347195:p.Leu194Met					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M	p.L194M	NM_198563.2	NP_940965.1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	6	725	-									Missense_Mutation	SNP	ENST00000355083.5	37	c.580C>A	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328120	0.81690	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	4.44	0.53790	.	0.000000	0.64402	U	0.000003	T	0.81074	0.4747	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84463	0.0595	9	0.72032	D	0.01	-7.9897	14.0255	0.64584	0.073:0.0:0.927:0.0	.	194;194	Q86TL2;A8MSY1	TM110_HUMAN;.	M	194	.	ENSP00000347195:L194M	L	-	1	2	TMEM110-MUSTN1;TMEM110	52852815	0.998000	0.40836	0.993000	0.49108	0.994000	0.84299	2.107000	0.41844	1.242000	0.43836	0.561000	0.74099	CTG		0.532	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		79	339	1	0	5.00163e-47	1	6.15206e-47	79	339				
ZNF76	7629	broad.mit.edu	37	6	35254112	35254112	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35254112T>C	ENST00000373953.3	+	4	434	c.168T>C	c.(166-168)ttT>ttC	p.F56F	ZNF76_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Silent_p.F56F	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	56	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTCTCTCCTTTGAGGATGGTC	0.577																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(166-168)ttT>ttC		zinc finger protein 76							101.0	81.0	88.0					6																	35254112		2203	4300	6503	SO:0001819	synonymous_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35254112T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.168T>C	6.37:g.35254112T>C						ZNF76_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Silent_p.F56F	p.F56F	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			4	434	+			56			3 X 12 AA approximate repeats.		Q9BQB2	Silent	SNP	ENST00000373953.3	37	c.168T>C	CCDS4801.1																																																																																				0.577	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		33	205	0	0	0	1	0	33	205				
UNC5CL	222643	broad.mit.edu	37	6	40998490	40998490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40998490A>G	ENST00000373164.1	-	6	1184	c.1124T>C	c.(1123-1125)tTg>tCg	p.L375S	UNC5CL_ENST00000244565.3_Missense_Mutation_p.L375S|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	375	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGGTCTCCAAGCCCTGAGT	0.552																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1123-1125)tTg>tCg		unc-5 homolog C (C. elegans)-like							67.0	66.0	67.0					6																	40998490		2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40998490A>G	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1124T>C	6.37:g.40998490A>G	ENSP00000362258:p.Leu375Ser					UNC5CL_ENST00000373164.1_Missense_Mutation_p.L375S|UNC5CL_ENST00000470102.1_5'UTR	p.L375S	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			7	1212	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		375			Interaction with RELA and NFKB1.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1124T>C	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192500	0.21954	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16897	2.31;2.31	4.79	3.61	0.41365	.	0.393509	0.18792	N	0.131024	T	0.03263	0.0095	N	0.24115	0.695	0.32059	N	0.595991	B	0.30193	0.272	B	0.23275	0.045	T	0.42258	-0.9462	10	0.24483	T	0.36	-7.3284	8.4273	0.32735	0.8019:0.1981:0.0:0.0	.	375	Q8IV45	UN5CL_HUMAN	S	375	ENSP00000244565:L375S;ENSP00000362258:L375S	ENSP00000244565:L375S	L	-	2	0	UNC5CL	41106468	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.410000	0.59774	0.838000	0.34948	-0.316000	0.08728	TTG		0.552	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		38	181	0	0	0	1	0	38	181				
ADAMTS7	11173	broad.mit.edu	37	15	79064172	79064172	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064172C>A	ENST00000388820.4	-	15	2342		c.e15-1		ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCACATACCCTGTCAGCCAA	0.637																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.e15-1		ADAM metallopeptidase with thrombospondin type 1 motif, 7							40.0	30.0	33.0					15																	79064172		2196	4293	6489	SO:0001630	splice_region_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79064172C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2132-1G>T	15.37:g.79064172C>A						ADAMTS7_ENST00000566303.1_Intron		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			15	2342	-								Q14F51|Q6P7J9	Splice_Site	SNP	ENST00000388820.4	37		CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748845	0.49257	.	.	ENSG00000136378	ENST00000388820	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0564	0.71917	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS7	76851227	1.000000	0.71417	0.998000	0.56505	0.443000	0.32047	7.453000	0.80700	2.106000	0.64143	0.433000	0.28618	.		0.637	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	Intron	24	130	1	0	1.32181e-22	1	1.49747e-22	24	130				
GRM4	2914	broad.mit.edu	37	6	34004315	34004315	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34004315G>A	ENST00000538487.2	-	9	2015	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GRM4_ENST00000535756.1_Silent_p.C391C|GRM4_ENST00000609222.1_Silent_p.C391C|GRM4_ENST00000374177.3_Silent_p.C408C|GRM4_ENST00000544773.2_Silent_p.C355C|GRM4_ENST00000455714.2_Silent_p.C384C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.C524C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	524					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACCCGGTTGGCAGGGCAGGC	0.627																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1570-1572)tgC>tgT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						49.0	43.0	45.0					6																	34004315		2202	4300	6502	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004315G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1572C>T	6.37:g.34004315G>A						GRM4_ENST00000545715.1_Silent_p.C216C|GRM4_ENST00000455714.2_Silent_p.C384C|GRM4_ENST00000535756.1_Silent_p.C391C|GRM4_ENST00000538487.1_Silent_p.C524C|GRM4_ENST00000544773.1_Silent_p.C355C|GRM4_ENST00000374177.3_Silent_p.C408C	p.C524C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	1741	-			524					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1572C>T	CCDS4787.1																																																																																				0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			69	299	0	0	0	1	0	69	299				
USP12	219333	broad.mit.edu	37	13	27645271	27645271	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27645271G>A	ENST00000282344.6	-	8	1204	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	316	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CAATATAATGGCCTCGATTGG	0.274																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(946-948)ggC>ggT		ubiquitin specific peptidase 12							67.0	66.0	66.0					13																	27645271		2203	4297	6500	SO:0001819	synonymous_variant	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27645271G>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.948C>T	13.37:g.27645271G>A							p.G316G	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	8	1204	-		Lung SC(185;0.0161)	316					A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	37	c.948C>T	CCDS31952.1																																																																																				0.274	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		19	210	0	0	0	1	0	19	210				
TBC1D9B	23061	broad.mit.edu	37	5	179302094	179302094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179302094C>A	ENST00000356834.3	-	12	2031	c.1994G>T	c.(1993-1995)aGc>aTc	p.S665I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	665	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGAGATGCTGGAGATCAC	0.597																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(1993-1995)aGc>aTc		TBC1 domain family, member 9B (with GRAM domain)							98.0	91.0	93.0					5																	179302094		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179302094C>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1994G>T	5.37:g.179302094C>A	ENSP00000349291:p.Ser665Ile					TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	p.S665I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	2031	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	665			Rab-GAP TBC.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.1994G>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534226	0.64972	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.10099	2.91;2.91	5.29	4.41	0.53225	Rab-GAP/TBC domain (4);	0.059600	0.64402	D	0.000003	T	0.07548	0.0190	N	0.25201	0.72	0.80722	D	1	P;B;B	0.34699	0.464;0.409;0.263	B;B;B	0.36766	0.232;0.149;0.232	T	0.09378	-1.0677	10	0.05833	T	0.94	-31.843	14.2923	0.66286	0.0:0.7149:0.2851:0.0	.	665;665;665	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	I	665	ENSP00000349291:S665I;ENSP00000347375:S665I	ENSP00000347375:S665I	S	-	2	0	TBC1D9B	179234700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.038000	0.57318	2.469000	0.83416	0.491000	0.48974	AGC		0.597	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		119	378	1	0	6.25559e-39	1	7.55242e-39	119	378				
FBRS	64319	broad.mit.edu	37	16	30680146	30680146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680146G>A	ENST00000287468.5	+	11	915	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	FBRS_ENST00000568722.1_Missense_Mutation_p.A130T|FBRS_ENST00000395073.2_Missense_Mutation_p.A130T|FBRS_ENST00000356166.6_Missense_Mutation_p.A738T	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	218										ovary(1)	1			Colorectal(24;0.103)			ACCAGCCTTCGCCTCCCCACC	0.687																																						ENST00000356166.6																			0				ovary(1)	1						c.(2212-2214)Gcc>Acc		fibrosin							11.0	16.0	14.0					16																	30680146		2185	4283	6468	SO:0001583	missense	64319							g.chr16:30680146G>A	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.652G>A	16.37:g.30680146G>A	ENSP00000287468:p.Ala218Thr					FBRS_ENST00000395073.2_Missense_Mutation_p.A130T|FBRS_ENST00000287468.5_Missense_Mutation_p.A218T|FBRS_ENST00000568722.1_Missense_Mutation_p.A130T	p.A738T			Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)		17	3300	+			218					B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	G	14.01	2.408585	0.42715	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32515	1.45	5.48	5.48	0.80851	.	0.166295	0.37715	N	0.001969	T	0.22859	0.0552	L	0.29908	0.895	0.29528	N	0.852992	B	0.26400	0.148	B	0.16722	0.016	T	0.10314	-1.0635	10	0.41790	T	0.15	-5.1837	13.0397	0.58891	0.0:0.2736:0.7264:0.0	.	218	Q9HAH7	FBRS_HUMAN	T	738;218;130	ENSP00000348489:A738T	ENSP00000287468:A218T	A	+	1	0	FBRS	30587647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.389000	0.44407	2.584000	0.87258	0.561000	0.74099	GCC		0.687	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		13	83	0	0	0	1	0	13	83				
MTSS1L	92154	broad.mit.edu	37	16	70714875	70714875	+	Silent	SNP	G	G	A	rs561940484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70714875G>A	ENST00000338779.6	-	2	397	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	41	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						ACCTCAGCTGGGAATGCAGCT	0.647																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(121-123)tcC>tcT		metastasis suppressor 1-like							55.0	58.0	57.0					16																	70714875		2195	4297	6492	SO:0001819	synonymous_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70714875G>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.123C>T	16.37:g.70714875G>A							p.S41S	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			2	397	-			41			IMD.		A6NJI7|Q9BUA8	Silent	SNP	ENST00000338779.6	37	c.123C>T	CCDS32476.1																																																																																				0.647	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		17	53	0	0	0	1	0	17	53				
NMD3	51068	broad.mit.edu	37	3	160952621	160952621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160952621C>T	ENST00000460469.1	+	5	919	c.464C>T	c.(463-465)gCt>gTt	p.A155V	NMD3_ENST00000351193.2_Missense_Mutation_p.A155V|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.A155V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	155					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTCTGGAAGGCTGTGATTCAA	0.373																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(463-465)gCt>gTt		NMD3 ribosome export adaptor							188.0	181.0	184.0					3																	160952621		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160952621C>T	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.464C>T	3.37:g.160952621C>T	ENSP00000419004:p.Ala155Val					NMD3_ENST00000472947.1_Missense_Mutation_p.A155V|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.A155V	p.A155V			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		5	919	+			155					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.464C>T	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313233	0.95655	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T;T	0.62941	0.45;0.21;0.05;-0.01;0.21;0.35;0.05	4.83	4.83	0.62350	.	0.103596	0.64402	D	0.000003	D	0.85106	0.5621	H	0.95402	3.665	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.72075	0.976;0.96	D	0.90009	0.4120	10	0.87932	D	0	-23.6263	17.2642	0.87081	0.0:1.0:0.0:0.0	.	155;155	C9JA08;Q96D46	.;NMD3_HUMAN	V	155;155;155;155;155;155;155;35	ENSP00000418980:A155V;ENSP00000419030:A155V;ENSP00000307525:A155V;ENSP00000417559:A155V;ENSP00000418908:A155V;ENSP00000419647:A155V;ENSP00000419004:A155V	ENSP00000307525:A155V	A	+	2	0	NMD3	162435315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.376000	0.81061	0.591000	0.81541	GCT		0.373	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		101	530	0	0	0	1	0	101	530				
CBLN4	140689	broad.mit.edu	37	20	54575785	54575785	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54575785A>G	ENST00000064571.2	-	2	1709		c.e2+1			NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor						protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CAAAACACACACCTGGATAGT	0.363																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.e2+1		cerebellin 4 precursor							146.0	150.0	148.0					20																	54575785		2203	4300	6503	SO:0001630	splice_region_variant	140689					cell junction|extracellular region|synapse		g.chr20:54575785A>G	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.408+1T>C	20.37:g.54575785A>G								NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		2	1709	-								A8K0S5	Splice_Site	SNP	ENST00000064571.2	37		CCDS13448.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006394	0.54361	.	.	ENSG00000054803	ENST00000064571	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5198	0.75857	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBLN4	54009192	1.000000	0.71417	0.992000	0.48379	0.536000	0.34869	8.896000	0.92521	2.077000	0.62373	0.374000	0.22700	.		0.363	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617	Intron	96	494	0	0	0	1	0	96	494				
ATP13A5	344905	broad.mit.edu	37	3	193096461	193096461	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193096461C>A	ENST00000342358.4	-	1	171	c.54G>T	c.(52-54)gaG>gaT	p.E18D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	18						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGTTCATCCTCCTCTCCCT	0.463																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(52-54)gaG>gaT		ATPase type 13A5							174.0	160.0	165.0					3																	193096461		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193096461C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.54G>T	3.37:g.193096461C>A	ENSP00000341942:p.Glu18Asp						p.E18D	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	1	171	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		18					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.54G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567558	0.45694	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.51071	2.2;0.72	4.94	3.98	0.46160	.	0.000000	0.56097	D	0.000028	T	0.30386	0.0763	N	0.25380	0.74	0.33589	D	0.600871	B	0.24618	0.107	B	0.27262	0.078	T	0.26258	-1.0108	10	0.10111	T	0.7	-11.1331	9.829	0.40930	0.2044:0.7956:0.0:0.0	.	18	Q4VNC0	AT135_HUMAN	D	18	ENSP00000341942:E18D;ENSP00000389416:E18D	ENSP00000341942:E18D	E	-	3	2	ATP13A5	194579155	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	0.244000	0.18124	2.678000	0.91216	0.655000	0.94253	GAG		0.463	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		122	533	1	0	3.20412e-72	1	4.07588e-72	122	533				
FBXO15	201456	broad.mit.edu	37	18	71796836	71796836	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71796836C>A	ENST00000419743.2	-	5	668	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	FBXO15_ENST00000269500.5_Missense_Mutation_p.G121C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	197						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATTGCCCAACCTAAACCAAAT	0.308																																						ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(361-363)Ggt>Tgt		F-box protein 15							54.0	57.0	56.0					18																	71796836		2203	4299	6502	SO:0001583	missense	201456							g.chr18:71796836C>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.589G>T	18.37:g.71796836C>A	ENSP00000393154:p.Gly197Cys					FBXO15_ENST00000419743.2_Missense_Mutation_p.G197C	p.G121C	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	5	696	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	121					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.361G>T	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396078	0.62177	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.9;0.88	5.85	2.69	0.31865	.	0.424638	0.28016	N	0.016924	T	0.48447	0.1500	L	0.57536	1.79	0.26728	N	0.970651	D;D	0.69078	0.997;0.993	P;P	0.57283	0.817;0.628	T	0.37549	-0.9701	10	0.72032	D	0.01	-15.6153	5.641	0.17565	0.0:0.5174:0.0:0.4826	.	197;121	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	121;197	ENSP00000269500:G121C;ENSP00000393154:G197C	ENSP00000269500:G121C	G	-	1	0	FBXO15	69947816	0.140000	0.22579	0.974000	0.42286	0.931000	0.56810	0.702000	0.25631	0.799000	0.34018	0.655000	0.94253	GGT		0.308	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		32	155	1	0	3.03874e-20	1	3.40186e-20	32	155				
IL4I1	259307	broad.mit.edu	37	19	50393095	50393095	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50393095C>T	ENST00000391826.2	-	8	1678	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	IL4I1_ENST00000341114.3_Silent_p.S534S|IL4I1_ENST00000595948.1_Silent_p.S534S|MIR4750_ENST00000584564.1_RNA	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	512						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	TGGCCGTGTCCGATGCAGGCC	0.692																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1600-1602)tcG>tcA		interleukin 4 induced 1							45.0	44.0	44.0					19																	50393095		2202	4299	6501	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393095C>T	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1536G>A	19.37:g.50393095C>T						IL4I1_ENST00000391826.2_Silent_p.S512S|IL4I1_ENST00000341114.3_Silent_p.S534S	p.S534S	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	10	2222	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	512					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.1602G>A	CCDS12787.1																																																																																				0.692	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			50	225	0	0	0	1	0	50	225				
MYLK2	85366	broad.mit.edu	37	20	30411332	30411332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30411332G>A	ENST00000375994.2	+	4	1098	c.825G>A	c.(823-825)agG>agA	p.R275R	MYLK2_ENST00000375985.4_Silent_p.R275R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	275					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGAGCTGAGGACCGGGAATG	0.622											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(823-825)agG>agA		myosin light chain kinase 2							97.0	102.0	100.0					20																	30411332		2203	4300	6503	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30411332G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.825G>A	20.37:g.30411332G>A			OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	817	MYLK2_ENST00000375985.4_Silent_p.R275R	p.R275R			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	1098	+			275					Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.825G>A	CCDS13191.1																																																																																				0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		35	865	0	0	0	1	0	35	865				
WDR27	253769	broad.mit.edu	37	6	170058377	170058377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170058377C>T	ENST00000448612.1	-	13	1506	c.1397G>A	c.(1396-1398)cGa>cAa	p.R466Q	WDR27_ENST00000333572.6_Missense_Mutation_p.R466Q|WDR27_ENST00000423258.1_Missense_Mutation_p.R339Q|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	436						nucleus (GO:0005634)		p.R466L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGACCACGTCGCTGTTCACT	0.488																																						ENST00000333572.6																			2	Substitution - Missense(2)	p.R466L(2)	lung(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(1396-1398)cGa>cAa		WD repeat domain 27							79.0	80.0	79.0					6																	170058377		2100	4224	6324	SO:0001583	missense	253769							g.chr6:170058377C>T	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1397G>A	6.37:g.170058377C>T	ENSP00000416289:p.Arg466Gln					WDR27_ENST00000423258.1_Missense_Mutation_p.R339Q|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.R466Q	p.R466Q			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	13	1916	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	436					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1397G>A	CCDS47520.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.183|2.183	-0.387218|-0.387218	0.04932|0.04932	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000441385|ENST00000448612;ENST00000333572;ENST00000423258	.|T;T;T	.|0.23950	.|1.98;2.2;1.88	4.56|4.56	-7.59|-7.59	0.01308|0.01308	.|.	.|0.607232	.|0.14213	.|N	.|0.333916	T|T	0.01092|0.01092	0.0036|0.0036	N|N	0.01188|0.01188	-0.97|-0.97	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.12013	.|0.002;0.0;0.002;0.005	.|B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001	T|T	0.35351|0.35351	-0.9792|-0.9792	5|10	.|0.09084	.|T	.|0.74	-1.0366|-1.0366	2.1689|2.1689	0.03845|0.03845	0.1201:0.3153:0.1222:0.4424|0.1201:0.3153:0.1222:0.4424	.|.	.|466;436;339;466	.|F2Z2U5;A2RRH5;A2RRH5-2;C9JGV0	.|.;WDR27_HUMAN;.;.	N|Q	100|466;466;339	.|ENSP00000416289:R466Q;ENSP00000330265:R466Q;ENSP00000397869:R339Q	.|ENSP00000330265:R466Q	D|R	-|-	1|2	0|0	WDR27|WDR27	169800302|169800302	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.349000|-1.349000	0.02627|0.02627	-1.609000|-1.609000	0.01585|0.01585	-0.244000|-0.244000	0.11960|0.11960	GAC|CGA		0.488	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		6	33	0	0	0	1	0	6	33				
PRIMPOL	201973	broad.mit.edu	37	4	185606792	185606792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185606792C>T	ENST00000314970.6	+	11	1682	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRIMPOL_ENST00000503752.1_Missense_Mutation_p.R417W|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.R416W|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.R288W	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	417					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										TTGTAAATATCGGTGGTGTGA	0.279																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(1249-1251)Cgg>Tgg									98.0	106.0	103.0					4																	185606792		2202	4300	6502	SO:0001583	missense	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185606792C>T	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.1249C>T	4.37:g.185606792C>T	ENSP00000313816:p.Arg417Trp					CCDC111_ENST00000503752.1_Missense_Mutation_p.R417W|CCDC111_ENST00000515774.1_Missense_Mutation_p.R288W|CCDC111_ENST00000512834.1_Missense_Mutation_p.R416W	p.R417W	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	11	1682	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	417					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.1249C>T	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022764	0.93462	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834;ENST00000508001	T;T;T;T	0.61859	0.1;0.07;0.1;0.11	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.83015	-0.0170	10	0.87932	D	0	-30.4189	20.3207	0.98668	0.0:1.0:0.0:0.0	.	288;417;416	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	W	417;288;417;416;91	ENSP00000313816:R417W;ENSP00000421913:R288W;ENSP00000420860:R417W;ENSP00000425316:R416W	ENSP00000313816:R417W	R	+	1	2	CCDC111	185843786	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.157000	0.77461	2.813000	0.96785	0.561000	0.74099	CGG		0.279	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		102	411	0	0	0	1	0	102	411				
KRT74	121391	broad.mit.edu	37	12	52964522	52964522	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964522C>A	ENST00000305620.2	-	5	986	c.939G>T	c.(937-939)gaG>gaT	p.E313D	KRT74_ENST00000549343.1_Missense_Mutation_p.E313D	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	313	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCATGCGGACCTCAGCGATGA	0.587																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(937-939)gaG>gaT		keratin 74							128.0	99.0	109.0					12																	52964522		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52964522C>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.939G>T	12.37:g.52964522C>A	ENSP00000307240:p.Glu313Asp					KRT74_ENST00000305620.2_Missense_Mutation_p.E313D	p.E313D			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	5	977	-			313			Coil 2.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.939G>T	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075854	0.20227	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.90133	-2.62;-2.62	4.49	2.61	0.31194	Filament (1);	0.226552	0.22688	N	0.056853	D	0.84474	0.5480	L	0.53780	1.695	0.26570	N	0.973584	B	0.18610	0.029	B	0.22880	0.042	T	0.75297	-0.3367	10	0.62326	D	0.03	.	0.5856	0.00719	0.2376:0.3655:0.1423:0.2546	.	313	Q7RTS7	K2C74_HUMAN	D	313	ENSP00000447447:E313D;ENSP00000307240:E313D	ENSP00000307240:E313D	E	-	3	2	KRT74	51250789	0.008000	0.16893	0.937000	0.37676	0.061000	0.15899	-0.982000	0.03762	1.174000	0.42811	0.655000	0.94253	GAG		0.587	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		10	284	1	0	1.58986e-06	1	1.64048e-06	10	284				
TNN	63923	broad.mit.edu	37	1	175046648	175046648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175046648G>A	ENST00000239462.4	+	2	207	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	32					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAGCCTCCCGGCTGCAGCAA	0.602																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(94-96)Ggc>Agc		tenascin N							63.0	55.0	58.0					1																	175046648		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046648G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.94G>A	1.37:g.175046648G>A	ENSP00000239462:p.Gly32Ser						p.G32S	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	207	+		Breast(1374;0.000962)	32					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.94G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	3.038	-0.198149	0.06219	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.23950	1.88	5.51	-0.53	0.11898	.	0.570052	0.18192	N	0.148793	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	B;B	0.26002	0.033;0.139	B;B	0.12156	0.003;0.007	T	0.13791	-1.0496	10	0.48119	T	0.1	.	9.2488	0.37543	0.5862:0.0:0.4138:0.0	.	32;32	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	32	ENSP00000239462:G32S	ENSP00000239462:G32S	G	+	1	0	TNN	173313271	0.001000	0.12720	0.003000	0.11579	0.037000	0.13140	0.451000	0.21779	-0.193000	0.10415	-0.797000	0.03246	GGC		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		17	411	0	0	0	1	0	17	411				
ADH6	130	broad.mit.edu	37	4	100140355	100140355	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100140355C>A	ENST00000237653.7	-	0	339				ADH6_ENST00000394897.1_De_novo_Start_OutOfFrame|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_De_novo_Start_OutOfFrame|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'Flank	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AAGGGAGATCCTGTAGCAACT	0.418																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20								alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						111.0	93.0	99.0					4																	100140355		2203	4300	6503			130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100140355C>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.-46G>T	4.37:g.100140355C>A						RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_De_novo_Start_OutOfFrame|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_De_novo_Start_OutOfFrame				P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	0	37	-								B3KS45|Q58F53	Translation_Start_Site	SNP	ENST00000237653.7	37		CCDS3647.1																																																																																				0.418	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		7	200	1	0	2.7689e-08	1	2.89045e-08	7	200				
AMHR2	269	broad.mit.edu	37	12	53825160	53825160	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53825160T>A	ENST00000257863.4	+	11	1705	c.1625T>A	c.(1624-1626)cTc>cAc	p.L542H	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	542					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTACCATCCTCCCCTGTAGG	0.577																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1624-1626)cTc>cAc		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						121.0	103.0	109.0					12																	53825160		2203	4300	6503	SO:0001583	missense	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53825160T>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1625T>A	12.37:g.53825160T>A	ENSP00000257863:p.Leu542His					AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H|AMHR2_ENST00000550311.1_3'UTR	p.L542H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			11	1705	+			542					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1625T>A	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771421	0.31320	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.94687	-3.44;-3.49	4.86	2.52	0.30459	.	0.512495	0.14745	N	0.300902	D	0.89371	0.6696	N	0.19112	0.55	0.09310	N	1	P	0.51653	0.947	P	0.47206	0.541	T	0.82414	-0.0469	10	0.87932	D	0	.	5.5994	0.17345	0.0:0.2264:0.0:0.7736	.	542	Q16671	AMHR2_HUMAN	H	542;447	ENSP00000257863:L542H;ENSP00000369117:L447H	ENSP00000257863:L542H	L	+	2	0	AMHR2	52111427	0.000000	0.05858	0.215000	0.23724	0.606000	0.37113	-0.026000	0.12392	0.973000	0.38340	0.460000	0.39030	CTC		0.577	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		97	383	0	0	0	1	0	97	383				
DNAH9	1770	broad.mit.edu	37	17	11532855	11532855	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532855G>T	ENST00000262442.4	+	7	1540	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	491	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGATGTACAGGCTTCTCTCA	0.547																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1471-1473)aGg>aTg		dynein, axonemal, heavy chain 9							107.0	101.0	103.0					17																	11532855		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11532855G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1472G>T	17.37:g.11532855G>T	ENSP00000262442:p.Arg491Met					DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M|DNAH9_ENST00000579406.1_3'UTR	p.R491M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	7	1540	+		Breast(5;0.0122)|all_epithelial(5;0.131)	491			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1472G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656503	0.47467	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56941	0.43;0.43	5.61	1.84	0.25277	Dynein heavy chain, domain-1 (1);	0.323004	0.31020	N	0.008406	T	0.53578	0.1805	L	0.50333	1.59	0.80722	D	1	B	0.33413	0.411	P	0.47102	0.537	T	0.52852	-0.8520	10	0.54805	T	0.06	.	7.0825	0.25239	0.5122:0.0:0.4878:0.0	.	491	Q9NYC9	DYH9_HUMAN	M	491	ENSP00000262442:R491M;ENSP00000414874:R491M	ENSP00000262442:R491M	R	+	2	0	DNAH9	11473580	0.956000	0.32656	0.989000	0.46669	0.184000	0.23303	0.847000	0.27696	0.606000	0.29965	0.655000	0.94253	AGG		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		48	365	1	0	8.00217e-19	1	8.90025e-19	48	365				
ADCY6	112	broad.mit.edu	37	12	49165651	49165651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49165651G>A	ENST00000307885.4	-	18	3587	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C	ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C|ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	965					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCATTGCGGCGCTCCCGGGCC	0.552																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(2893-2895)Cgc>Tgc		adenylate cyclase 6							111.0	87.0	95.0					12																	49165651		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49165651G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2893C>T	12.37:g.49165651G>A	ENSP00000311405:p.Arg965Cys					ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C|ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C	p.R965C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			18	3587	-			965					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.2893C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697873	0.88830	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.80909	-1.39;-1.39;-1.43	5.74	5.74	0.90152	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.85682	D	0.000000	D	0.91637	0.7357	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.68943	0.943;0.961;0.886	D	0.92549	0.6048	10	0.87932	D	0	.	19.0821	0.93186	0.0:0.0:1.0:0.0	.	196;912;965	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	C	912;912;965	ENSP00000350536:R912C;ENSP00000446730:R912C;ENSP00000311405:R965C	ENSP00000311405:R965C	R	-	1	0	ADCY6	47451918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.584000	0.74057	2.884000	0.98904	0.655000	0.94253	CGC		0.552	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		38	405	0	0	0	1	0	38	405				
PRR14	78994	broad.mit.edu	37	16	30666168	30666168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666168C>T	ENST00000542965.2	+	7	1333	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	293	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGAGGCCGAGCAGTCTGGGGC	0.627																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(877-879)Cag>Tag		proline rich 14							36.0	39.0	38.0					16																	30666168		2197	4299	6496	SO:0001587	stop_gained	78994							g.chr16:30666168C>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.877C>T	16.37:g.30666168C>T	ENSP00000441641:p.Gln293*					PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*|PRR14_ENST00000571654.1_3'UTR	p.Q293*			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1333	+			293			Pro-rich.		Q8WTX2	Nonsense_Mutation	SNP	ENST00000542965.2	37	c.877C>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361763	0.98235	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	.	.	.	5.75	3.56	0.40772	.	0.440563	0.20816	N	0.085141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.0254	9.3627	0.38206	0.142:0.6106:0.2474:0.0	.	.	.	.	X	266;293;293	.	ENSP00000287463:Q266X	Q	+	1	0	PRR14	30573669	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.508000	0.35769	2.716000	0.92895	0.643000	0.83706	CAG		0.627	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		13	329	0	0	0	1	0	13	329				
NRN1	51299	broad.mit.edu	37	6	6002641	6002641	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6002641T>C	ENST00000244766.2	-	2	362	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	49				SM -> TW (in Ref. 3; AAP97232). {ECO:0000305}.	nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TAGTTGGCCATGCTGTCGCCC	0.617																																						ENST00000244766.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(145-147)Atg>Gtg		neuritin 1							158.0	133.0	142.0					6																	6002641		2203	4300	6503	SO:0001583	missense	51299					anchored to membrane|plasma membrane		g.chr6:6002641T>C	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.145A>G	6.37:g.6002641T>C	ENSP00000244766:p.Met49Val					NRN1_ENST00000495850.1_5'UTR	p.M49V	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	2	362	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	49	SM -> TW (in Ref. 3; AAP97232).				B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	c.145A>G	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341319	0.41498	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42245	1.32	0.46203	D	0.998925	B	0.02656	0.0	B	0.04013	0.001	T	0.38929	-0.9638	9	0.40728	T	0.16	-9.5493	11.209	0.48786	0.0:0.0:0.0:1.0	.	49	Q9NPD7	NRN1_HUMAN	V	49	.	ENSP00000244766:M49V	M	-	1	0	NRN1	5947640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	1.773000	0.52216	0.379000	0.24179	ATG		0.617	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			107	454	0	0	0	1	0	107	454				
ZNF445	353274	broad.mit.edu	37	3	44497024	44497024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44497024C>T	ENST00000396077.2	-	3	365	c.18G>A	c.(16-18)tgG>tgA	p.W6*	ZNF445_ENST00000425708.2_Nonsense_Mutation_p.W6*	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	6					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGCAGCATGCCACCTGCCTG	0.547																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(16-18)tgG>tgA		zinc finger protein 445							45.0	44.0	44.0					3																	44497024		2203	4300	6503	SO:0001587	stop_gained	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44497024C>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.18G>A	3.37:g.44497024C>T	ENSP00000379387:p.Trp6*					ZNF445_ENST00000396077.2_Nonsense_Mutation_p.W6*	p.W6*			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	2	359	-			6					Q3MJD1	Nonsense_Mutation	SNP	ENST00000396077.2	37	c.18G>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876041	0.72180	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	.	.	.	4.02	2.16	0.27623	.	0.195054	0.25935	N	0.027348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.4626	0.44590	0.0:0.6173:0.3827:0.0	.	.	.	.	X	6	.	ENSP00000342436:W6X	W	-	3	0	ZNF445	44472028	0.086000	0.21541	0.614000	0.29051	0.414000	0.31173	0.126000	0.15769	0.621000	0.30232	0.563000	0.77884	TGG		0.547	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		58	279	0	0	0	1	0	58	279				
ESRRA	2101	broad.mit.edu	37	11	64082215	64082215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082215G>A	ENST00000405666.1	+	5	808	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	ESRRA_ENST00000406310.1_Splice_Site|ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	192					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGTCACAGCAGCCCCAGTGAA	0.592																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(574-576)Gcc>Acc		estrogen-related receptor alpha							62.0	64.0	63.0					11																	64082215		2084	4217	6301	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082215G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.574G>A	11.37:g.64082215G>A	ENSP00000384851:p.Ala192Thr					ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T|ESRRA_ENST00000406310.1_Splice_Site	p.A192T			P11474	ERR1_HUMAN			5	808	+			192					Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.574G>A	CCDS41667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657433|1.657433	0.29425|0.29425	.|.	.|.	ENSG00000173153|ENSG00000173153	ENST00000406310|ENST00000000442;ENST00000539594;ENST00000405666	.|T;T;T	.|0.35789	.|1.29;1.29;1.29	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Nuclear hormone receptor, ligand-binding (2);	.|0.000000	.|0.46442	.|D	.|0.000292	.|T	.|0.20981	.|0.0505	N|N	0.22421|0.22421	0.69|0.69	0.33007|0.33007	D|D	0.526971|0.526971	.|P	.|0.41524	.|0.753	.|B	.|0.28553	.|0.091	.|T	.|0.43278	.|-0.9401	.|10	.|0.62326	.|D	.|0.03	.|.	13.73|13.73	0.62781|0.62781	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192	.|P11474	.|ERR1_HUMAN	.|T	-1|192;49;192	.|ENSP00000000442:A192T;ENSP00000439896:A49T;ENSP00000384851:A192T	.|ENSP00000000442:A192T	.|A	+|+	.|1	.|0	ESRRA|ESRRA	63838791|63838791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.615000|0.615000	0.37417|0.37417	4.517000|4.517000	0.60503|0.60503	2.171000|2.171000	0.68590|0.68590	0.462000|0.462000	0.41574|0.41574	.|GCC		0.592	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		47	194	0	0	0	1	0	47	194				
BTN3A2	11118	broad.mit.edu	37	6	26370752	26370752	+	Silent	SNP	C	C	T	rs559179512		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370752C>T	ENST00000356386.2	+	5	824	c.636C>T	c.(634-636)ggC>ggT	p.G212G	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Silent_p.G189G|BTN3A2_ENST00000396948.1_Silent_p.G212G|BTN3A2_ENST00000508906.2_Silent_p.G170G|BTN3A2_ENST00000527422.1_Silent_p.G212G|BTN3A2_ENST00000377708.2_Silent_p.G212G	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	212				RG -> KS (in Ref. 3; AAF76140). {ECO:0000305}.	interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCATGAGAGGCGGCTCCGGGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18223	0.001		0.0	False		,,,				2504	0.0					ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(634-636)ggC>ggT		butyrophilin, subfamily 3, member A2							141.0	138.0	139.0					6																	26370752		2203	4300	6503	SO:0001819	synonymous_variant	11118					integral to membrane		g.chr6:26370752C>T	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.636C>T	6.37:g.26370752C>T						BTN3A2_ENST00000508906.2_Silent_p.G170G|BTN3A2_ENST00000396948.1_Silent_p.G212G|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Silent_p.G212G|BTN3A2_ENST00000396934.3_Silent_p.G189G|BTN3A2_ENST00000527422.1_Silent_p.G212G	p.G212G	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	824	+			212	RG -> KS (in Ref. 3; AAF76140).				B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	ENST00000356386.2	37	c.636C>T	CCDS4605.1																																																																																				0.557	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			116	610	0	0	0	1	0	116	610				
HEG1	57493	broad.mit.edu	37	3	124748188	124748188	+	Missense_Mutation	SNP	G	G	A	rs201670111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124748188G>A	ENST00000311127.4	-	2	528	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	154					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGAGCATCCGAAGCAGCATG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21083	0.0		0.0	False		,,,				2504	0.0					ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(460-462)tCg>tTg		heart development protein with EGF-like domains 1							97.0	90.0	92.0					3																	124748188		1946	4149	6095	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124748188G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.461C>T	3.37:g.124748188G>A	ENSP00000311502:p.Ser154Leu						p.S154L	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			2	528	-			154					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.461C>T	CCDS46898.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.12	1.546652	0.27652	.	.	ENSG00000173706	ENST00000311127	T	0.51817	0.69	5.65	2.74	0.32292	.	.	.	.	.	T	0.30262	0.0759	N	0.20986	0.625	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.003	T	0.16958	-1.0385	9	0.27082	T	0.32	.	6.6872	0.23152	0.2865:0.0:0.7135:0.0	.	154;154	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	154	ENSP00000311502:S154L	ENSP00000311502:S154L	S	-	2	0	HEG1	126230878	0.088000	0.21588	0.065000	0.19835	0.001000	0.01503	0.541000	0.23207	0.963000	0.38082	-0.122000	0.15005	TCG		0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		45	197	0	0	0	1	0	45	197				
SLX4IP	128710	broad.mit.edu	37	20	10582383	10582383	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10582383C>A	ENST00000334534.5	+	6	501	c.321C>A	c.(319-321)ctC>ctA	p.L107L		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	107																	ATACAGAACTCTGTGTATTCC	0.328																																						ENST00000334534.5																			0											c.(319-321)ctC>ctA		SLX4 interacting protein							122.0	109.0	113.0					20																	10582383		2203	4300	6503	SO:0001819	synonymous_variant	128710							g.chr20:10582383C>A	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.321C>A	20.37:g.10582383C>A							p.L107L	NM_001009608.1	NP_001009608.1					6	501	+								Q05CG2|Q05CT9	Silent	SNP	ENST00000334534.5	37	c.321C>A	CCDS33439.1																																																																																				0.328	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		32	205	1	0	4.39465e-27	1	5.08038e-27	32	205				
CCDC88B	283234	broad.mit.edu	37	11	64111522	64111522	+	Missense_Mutation	SNP	G	G	T	rs149069335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111522G>T	ENST00000356786.5	+	14	1553	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	503						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTGGAGGAGGCTCCCCAGA	0.657																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1507-1509)gaG>gaT		coiled-coil domain containing 88B							37.0	39.0	38.0					11																	64111522		2200	4297	6497	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111522G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1509G>T	11.37:g.64111522G>T	ENSP00000349238:p.Glu503Asp					CCDC88B_ENST00000463837.1_3'UTR	p.E503D	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1553	+			503					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1509G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	9.265	1.044196	0.19748	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23147	1.92	3.19	-4.77	0.03219	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.25169	0.094;0.119;0.094	B;B;B	0.19666	0.026;0.024;0.026	T	0.26155	-1.0111	9	0.59425	D	0.04	.	3.9414	0.09329	0.2302:0.0:0.2344:0.5354	.	503;152;503	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	D	503	ENSP00000349238:E503D	ENSP00000349238:E503D	E	+	3	2	CCDC88B	63868098	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.247000	0.08866	-0.922000	0.03789	0.456000	0.33151	GAG		0.657	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		48	255	1	0	7.88023e-25	1	9.02574e-25	48	255				
FAF1	11124	broad.mit.edu	37	1	50941256	50941256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50941256G>A	ENST00000396153.2	-	18	2200	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	FAF1_ENST00000371778.4_Silent_p.G583G|FAF1_ENST00000545823.1_Silent_p.G341G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	583	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCAAGAACTCGCCACTGGGGG	0.532																																						ENST00000396153.2																			0				breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(1747-1749)ggC>ggT		Fas (TNFRSF6) associated factor 1							60.0	63.0	62.0					1																	50941256		2203	4300	6503	SO:0001819	synonymous_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:50941256G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1749C>T	1.37:g.50941256G>A						FAF1_ENST00000371778.4_Silent_p.G583G|FAF1_ENST00000545823.1_Silent_p.G341G	p.G583G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	18	2200	-			583			UBX.		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	37	c.1749C>T	CCDS554.1																																																																																				0.532	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		33	293	0	0	0	1	0	33	293				
GRPEL1	80273	broad.mit.edu	37	4	7062618	7062618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062618C>T	ENST00000264954.4	-	4	789	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	209					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCCACCAGGGCGGGTCTCAGA	0.542																																						ENST00000264954.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(625-627)Gcc>Acc		GrpE-like 1, mitochondrial (E. coli)							137.0	152.0	147.0					4																	7062618		2203	4300	6503	SO:0001583	missense	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7062618C>T	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.625G>A	4.37:g.7062618C>T	ENSP00000264954:p.Ala209Thr						p.A209T	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN			4	789	-			209					B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	37	c.625G>A	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734855	0.96865	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	5.65	0.86999	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89449	0.3729	9	0.87932	D	0	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	209	Q9HAV7	GRPE1_HUMAN	T	209;188	.	ENSP00000264954:A209T	A	-	1	0	GRPEL1	7113519	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.305000	0.78891	2.659000	0.90383	0.561000	0.74099	GCC		0.542	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196		46	1053	0	0	0	1	0	46	1053				
HOXA4	3201	broad.mit.edu	37	7	27168987	27168987	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27168987G>A	ENST00000360046.5	-	2	885	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.H274Y|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	274					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGCAGTTTGTGGTCTTTCTTC	0.597																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(820-822)Cac>Tac		homeobox A4							303.0	247.0	266.0					7																	27168987		2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27168987G>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.820C>T	7.37:g.27168987G>A	ENSP00000353151:p.His274Tyr					HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.H274Y	p.H274Y	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	885	-			274					A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.820C>T	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.240479|4.240479	0.79912|0.79912	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000360046;ENST00000428284|ENST00000511914	D;D|.	0.87491|.	-2.26;-2.26|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (1);|.	0.000000|.	0.43416|.	D|.	0.000577|.	T|T	0.75686|0.75686	0.3883|0.3883	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.65874|.	0.939|.	T|T	0.75031|0.75031	-0.3461|-0.3461	10|5	0.87932|.	D|.	0|.	.|.	18.9816|18.9816	0.92757|0.92757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	274|.	Q00056|.	HXA4_HUMAN|.	Y|L	274|93	ENSP00000353151:H274Y;ENSP00000408845:H274Y|.	ENSP00000353151:H274Y|.	H|P	-|-	1|2	0|0	HOXA4|HOXA4	27135512|27135512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.751000|9.751000	0.98889|0.98889	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	CAC|CCA		0.597	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			10	622	0	0	0	1	0	10	622				
ASPM	259266	broad.mit.edu	37	1	197072431	197072431	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072431G>T	ENST00000367409.4	-	18	6206	c.5950C>A	c.(5950-5952)Cat>Aat	p.H1984N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1984	IQ 13. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTGCACATGCATTCTATAG	0.358																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5950-5952)Cat>Aat		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							168.0	165.0	166.0					1																	197072431		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072431G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5950C>A	1.37:g.197072431G>T	ENSP00000356379:p.His1984Asn					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.H1984N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6206	-			1984			IQ 13.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5950C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.501171	0.64298	.	.	ENSG00000066279	ENST00000367409	T	0.27720	1.65	5.6	-3.33	0.04958	.	0.583413	0.16663	N	0.204686	T	0.42314	0.1197	M	0.75264	2.295	0.80722	D	1	P	0.38048	0.616	P	0.48334	0.574	T	0.51834	-0.8655	10	0.46703	T	0.11	.	15.0708	0.72034	0.2856:0.0:0.7144:0.0	.	1984	Q8IZT6	ASPM_HUMAN	N	1984	ENSP00000356379:H1984N	ENSP00000356379:H1984N	H	-	1	0	ASPM	195339054	0.980000	0.34600	0.072000	0.20136	0.991000	0.79684	0.295000	0.19065	-0.614000	0.05687	0.645000	0.84053	CAT		0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		179	677	1	0	3.97866e-83	1	5.09331e-83	179	677				
FNDC1	84624	broad.mit.edu	37	6	159654115	159654115	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654115C>A	ENST00000297267.9	+	11	2771	c.2571C>A	c.(2569-2571)gcC>gcA	p.A857A	FNDC1_ENST00000340366.6_Silent_p.A794A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	857					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)		CCTCCCGAGCCCACCCCAGGG	0.622																																						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.(2569-2571)gcC>gcA		fibronectin type III domain containing 1							22.0	28.0	26.0					6																	159654115		1964	4148	6112	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159654115C>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.2571C>A	6.37:g.159654115C>A						FNDC1_ENST00000340366.6_Silent_p.A794A	p.A857A	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	2771	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	857					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.2571C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223786	0.09863	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.0	-2.74	0.05932	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	-3.3958	6.0495	0.19777	0.0:0.286:0.4831:0.2309	.	.	.	.	T	753	.	.	P	+	1	0	FNDC1	159574105	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.894000	0.04123	-0.518000	0.06452	0.655000	0.94253	CCA		0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		23	66	1	0	5.35356e-11	1	5.69577e-11	23	66				
LRFN1	57622	broad.mit.edu	37	19	39805339	39805339	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805339A>G	ENST00000248668.4	-	1	637	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	213						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTCCAGACGGACCAGCTTGTG	0.652																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(637-639)gTc>gCc		leucine rich repeat and fibronectin type III domain containing 1							42.0	51.0	48.0					19																	39805339		2158	4276	6434	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805339A>G	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.638T>C	19.37:g.39805339A>G	ENSP00000248668:p.Val213Ala					CTC-246B18.8_ENST00000601911.1_RNA	p.V213A	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	637	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		213					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.638T>C	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	A	1.314	-0.601228	0.03744	.	.	ENSG00000128011	ENST00000248668	T	0.57273	0.41	4.62	3.61	0.41365	.	0.000000	0.38720	N	0.001581	T	0.31358	0.0794	N	0.25485	0.75	0.47819	D	0.999529	B	0.20052	0.041	B	0.18871	0.023	T	0.13255	-1.0516	10	0.02654	T	1	.	8.0904	0.30797	0.9026:0.0:0.0974:0.0	.	213	Q9P244	LRFN1_HUMAN	A	213	ENSP00000248668:V213A	ENSP00000248668:V213A	V	-	2	0	LRFN1	44497179	0.998000	0.40836	0.957000	0.39632	0.993000	0.82548	3.704000	0.54815	0.810000	0.34279	0.454000	0.30748	GTC		0.652	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		34	116	0	0	0	1	0	34	116				
MAPK4	5596	broad.mit.edu	37	18	48255600	48255600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255600C>T	ENST00000400384.2	+	6	2176	c.1140C>T	c.(1138-1140)cgC>cgT	p.R380R	MAPK4_ENST00000540640.1_Silent_p.R169R|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	380					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGGTACAGCGCGACCCGCGCG	0.672																																						ENST00000400384.2																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(1138-1140)cgC>cgT		mitogen-activated protein kinase 4							31.0	35.0	34.0					18																	48255600		2031	4119	6150	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48255600C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1140C>T	18.37:g.48255600C>T						MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.R169R	p.R380R	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2176	+		Colorectal(6;0.0297)	380					A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.1140C>T	CCDS42437.1																																																																																				0.672	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		33	337	0	0	0	1	0	33	337				
SPTBN1	6711	broad.mit.edu	37	2	54856651	54856651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54856651G>A	ENST00000356805.4	+	14	2661	c.2380G>A	c.(2380-2382)Gcc>Acc	p.A794T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A781T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	794					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAAGAGATCGCCAATTACAG	0.597																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2341-2343)Gcc>Acc		spectrin, beta, non-erythrocytic 1							96.0	92.0	93.0					2																	54856651		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856651G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2380G>A	2.37:g.54856651G>A	ENSP00000349259:p.Ala794Thr					SPTBN1_ENST00000356805.4_Missense_Mutation_p.A794T	p.A781T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2726	+			794					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2341G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987641	0.35036	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.53640	0.61;0.61	5.78	3.87	0.44632	.	0.312640	0.34088	N	0.004274	T	0.40645	0.1125	L	0.50333	1.59	0.33051	D	0.532808	B;B	0.28713	0.037;0.22	B;B	0.33568	0.103;0.166	T	0.47911	-0.9080	10	0.25751	T	0.34	.	7.98	0.30177	0.0894:0.0:0.7519:0.1587	.	781;794	Q01082-3;Q01082	.;SPTB2_HUMAN	T	794;781	ENSP00000349259:A794T;ENSP00000334156:A781T	ENSP00000334156:A781T	A	+	1	0	SPTBN1	54710155	0.927000	0.31430	1.000000	0.80357	0.661000	0.39034	1.759000	0.38420	0.670000	0.31165	0.655000	0.94253	GCC		0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			96	453	0	0	0	1	0	96	453				
FRMPD1	22844	broad.mit.edu	37	9	37735568	37735568	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37735568A>G	ENST00000539465.1	+	13	1831	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	413	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGAGAATCCTACATTGCCCTT	0.438																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1237-1239)tAc>tGc		FERM and PDZ domain containing 1							145.0	133.0	137.0					9																	37735568		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37735568A>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1238A>G	9.37:g.37735568A>G	ENSP00000444411:p.Tyr413Cys					FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C	p.Y413C			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	13	1831	+			413			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1238A>G	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818001	0.32145	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.74	4.61	0.57282	FERM domain (1);	0.173638	0.52532	D	0.000066	T	0.09423	0.0232	L	0.36672	1.1	0.46849	D	0.99922	B;B	0.14012	0.001;0.009	B;B	0.09377	0.002;0.004	T	0.11842	-1.0571	10	0.38643	T	0.18	-9.5643	9.9939	0.41887	0.92:0.0:0.08:0.0	.	282;413	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	C	413;413;235;282	ENSP00000366995:Y413C;ENSP00000444411:Y413C;ENSP00000437762:Y235C;ENSP00000444804:Y282C	ENSP00000366995:Y413C	Y	+	2	0	FRMPD1	37725568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	1.011000	0.39340	0.533000	0.62120	TAC		0.438	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		76	373	0	0	0	1	0	76	373				
RARS	5917	broad.mit.edu	37	5	167922434	167922434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167922434G>A	ENST00000231572.3	+	6	748	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	RARS_ENST00000538719.1_Missense_Mutation_p.V26M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	232					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AGGGTATGACGTGCTCAGGTA	0.408																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(694-696)Gtg>Atg		arginyl-tRNA synthetase							171.0	162.0	165.0					5																	167922434		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167922434G>A	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.694G>A	5.37:g.167922434G>A	ENSP00000231572:p.Val232Met					RARS_ENST00000538719.1_Missense_Mutation_p.V26M	p.V232M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	6	748	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	232					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.694G>A	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573133	0.86542	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.76709	-1.04;-0.81	5.03	5.03	0.67393	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94383	0.7606	10	0.87932	D	0	-14.2961	18.4023	0.90520	0.0:0.0:1.0:0.0	.	232	P54136	SYRC_HUMAN	M	232;26	ENSP00000231572:V232M;ENSP00000439108:V26M	ENSP00000231572:V232M	V	+	1	0	RARS	167855012	1.000000	0.71417	0.905000	0.35620	0.754000	0.42855	9.414000	0.97362	2.339000	0.79563	0.655000	0.94253	GTG		0.408	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		135	505	0	0	0	1	0	135	505				
USP4	7375	broad.mit.edu	37	3	49338072	49338072	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49338072A>G	ENST00000265560.4	-	11	1386	c.1340T>C	c.(1339-1341)aTt>aCt	p.I447T	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000351842.4_Missense_Mutation_p.I400T	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	447	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGTATCCACAATCACAGAATC	0.468																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1198-1200)aTt>aCt		ubiquitin specific peptidase 4 (proto-oncogene)							98.0	80.0	87.0					3																	49338072		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49338072A>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1340T>C	3.37:g.49338072A>G	ENSP00000265560:p.Ile447Thr					USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.I447T	p.I400T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	10	1207	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	447					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1199T>C	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690655	0.88735	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.38240	1.15;1.15	5.93	5.93	0.95920	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.77496	-0.2566	10	0.87932	D	0	-19.8798	15.2045	0.73169	1.0:0.0:0.0:0.0	.	400;447;447	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	T	400;447	ENSP00000341028:I400T;ENSP00000265560:I447T	ENSP00000265560:I447T	I	-	2	0	USP4	49313076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.283000	0.95860	2.261000	0.74972	0.459000	0.35465	ATT		0.468	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		55	214	0	0	0	1	0	55	214				
WDR63	126820	broad.mit.edu	37	1	85570251	85570251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85570251C>T	ENST00000294664.6	+	14	1704	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	WDR63_ENST00000326813.8_Silent_p.C469C|WDR63_ENST00000370596.1_Silent_p.C469C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	508										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGGAATATGCTGTCAACTTG	0.328																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1522-1524)tgC>tgT		WD repeat domain 63							172.0	162.0	165.0					1																	85570251		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85570251C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1524C>T	1.37:g.85570251C>T						WDR63_ENST00000326813.8_Silent_p.C469C|WDR63_ENST00000370596.1_Silent_p.C469C	p.C508C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	14	1704	+			508					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.1524C>T	CCDS702.1																																																																																				0.328	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		39	162	0	0	0	1	0	39	162				
PLA2G4D	283748	broad.mit.edu	37	15	42373813	42373813	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42373813C>T	ENST00000290472.3	-	11	916		c.e11-1			NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCCTCAGGGCTGTGGCAATG	0.617																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.e11-1		phospholipase A2, group IVD (cytosolic)							53.0	56.0	55.0					15																	42373813		2203	4299	6502	SO:0001630	splice_region_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42373813C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.822-1G>A	15.37:g.42373813C>T								NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	11	916	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)						Q8N176	Splice_Site	SNP	ENST00000290472.3	37		CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271183	0.40194	.	.	ENSG00000159337	ENST00000290472	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5248	0.75894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4D	40161105	1.000000	0.71417	0.945000	0.38365	0.007000	0.05969	4.928000	0.63447	2.267000	0.75376	0.650000	0.86243	.		0.617	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	Intron	46	403	0	0	0	1	0	46	403				
PIAS1	8554	broad.mit.edu	37	15	68479978	68479978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479978G>A	ENST00000249636.6	+	14	1909	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q	PIAS1_ENST00000545237.1_Silent_p.Q589Q	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	587	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CCTCCTCACAGATGTTTCTTG	0.502																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1765-1767)caG>caA		protein inhibitor of activated STAT, 1							87.0	84.0	85.0					15																	68479978		1959	4164	6123	SO:0001819	synonymous_variant	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68479978G>A	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1761G>A	15.37:g.68479978G>A						PIAS1_ENST00000249636.6_Silent_p.Q587Q	p.Q589Q			O75925	PIAS1_HUMAN			15	2508	+			587			4 X 4 AA repeats of N-T-S-L.|Ser-rich.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	37	c.1767G>A	CCDS45290.1																																																																																				0.502	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			63	275	0	0	0	1	0	63	275				
OSR1	130497	broad.mit.edu	37	2	19553022	19553022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:19553022C>T	ENST00000272223.2	-	2	889	c.545G>A	c.(544-546)cGc>cAc	p.R182H	OSR1_ENST00000536433.1_Missense_Mutation_p.R182H	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	182					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GGTGAAGTGGCGGCCACAGAA	0.567																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(544-546)cGc>cAc		odd-skipped related transciption factor 1							122.0	116.0	118.0					2																	19553022		2203	4300	6503	SO:0001583	missense	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553022C>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.545G>A	2.37:g.19553022C>T	ENSP00000272223:p.Arg182His					OSR1_ENST00000272223.2_Missense_Mutation_p.R182H	p.R182H			Q8TAX0	OSR1_HUMAN			1	3655	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	182					B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	c.545G>A	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914406	0.92178	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.03920	3.76;3.76	5.68	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	M	0.75615	2.305	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.00051	-1.2195	9	.	.	.	-30.0324	13.7771	0.63059	0.0:0.9258:0.0:0.0742	.	182	Q8TAX0	OSR1_HUMAN	H	182	ENSP00000272223:R182H;ENSP00000441801:R182H	.	R	-	2	0	OSR1	19416503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.685000	0.91497	0.650000	0.86243	CGC		0.567	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		61	618	0	0	0	1	0	61	618				
CADM3	57863	broad.mit.edu	37	1	159163289	159163289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163289G>A	ENST00000368125.4	+	4	616	c.459G>A	c.(457-459)caG>caA	p.Q153Q	CADM3_ENST00000368124.4_Silent_p.Q187Q|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	153	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TAAACTGTCAGTCTTCTGGGA	0.527																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(457-459)caG>caA		cell adhesion molecule 3							91.0	91.0	91.0					1																	159163289		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163289G>A	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.459G>A	1.37:g.159163289G>A						CADM3_ENST00000368124.4_Silent_p.Q187Q	p.Q153Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	616	+	all_hematologic(112;0.0429)		153			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.459G>A	CCDS44251.1																																																																																				0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		106	294	0	0	0	1	0	106	294				
COL5A2	1290	broad.mit.edu	37	2	189929383	189929383	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189929383T>G	ENST00000374866.3	-	25	1892		c.e25-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGAGCACCCTGTACCGAGGC	0.478																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.e25-2		collagen, type V, alpha 2							47.0	50.0	49.0					2																	189929383		2203	4300	6503	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189929383T>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1618-2A>C	2.37:g.189929383T>G								NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		25	1892	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37		CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663826	0.88251	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0612	0.80839	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189637628	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.438000	0.80431	2.250000	0.74265	0.477000	0.44152	.		0.478	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	50	327	0	0	0	1	0	50	327				
PPP1R9A	55607	broad.mit.edu	37	7	94879459	94879459	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94879459C>A	ENST00000433881.1	+	9	2754	c.2222C>A	c.(2221-2223)aCa>aAa	p.T741K	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T763K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T741K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	741	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGCCCAAACATTATGCCAC	0.393										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2221-2223)aCa>aAa		protein phosphatase 1, regulatory subunit 9A							95.0	86.0	89.0					7																	94879459		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94879459C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2222C>A	7.37:g.94879459C>A	ENSP00000398870:p.Thr741Lys	HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T763K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K	p.T741K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	2438	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		741			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2222C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243814	0.39697	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14640	2.49;2.53;2.51;2.53;2.51;2.51	5.22	3.29	0.37713	.	0.054644	0.64402	D	0.000001	T	0.27384	0.0672	L	0.47716	1.5	0.47698	D	0.999495	B;D;B;D;D	0.69078	0.201;0.964;0.302;0.997;0.968	B;P;B;P;P	0.61874	0.053;0.79;0.153;0.895;0.554	T	0.04454	-1.0950	10	0.42905	T	0.14	.	16.3956	0.83604	0.0:0.7534:0.2466:0.0	.	741;741;763;741;741	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	763;741;741;741;741;741	ENSP00000405514:T763K;ENSP00000344524:T741K;ENSP00000411342:T741K;ENSP00000398870:T741K;ENSP00000289495:T741K;ENSP00000402893:T741K	ENSP00000289495:T741K	T	+	2	0	PPP1R9A	94717395	1.000000	0.71417	0.739000	0.30968	0.019000	0.09904	4.778000	0.62368	1.568000	0.49683	-0.165000	0.13383	ACA		0.393	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		37	179	1	0	4.90274e-10	1	5.1822e-10	37	179				
YLPM1	56252	broad.mit.edu	37	14	75279362	75279362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75279362G>A	ENST00000552421.1	+	10	3385	c.3261G>A	c.(3259-3261)atG>atA	p.M1087I	YLPM1_ENST00000325680.7_Missense_Mutation_p.M1793I|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I			P49750	YLPM1_HUMAN	YLP motif containing 1	1598	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGAGCGAATGCCTCTGCCAG	0.463																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(5377-5379)atG>atA		YLP motif containing 1							43.0	46.0	45.0					14																	75279362		1995	4181	6176	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75279362G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3261G>A	14.37:g.75279362G>A	ENSP00000447921:p.Met1087Ile					YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I|YLPM1_ENST00000552421.1_Missense_Mutation_p.M1087I	p.M1793I	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	11	5503	+			1598					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5379G>A		.	.	.	.	.	.	.	.	.	.	G	12.39	1.924446	0.34002	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.27053	0.805	0.33071	D	0.535411	B;B	0.17667	0.013;0.023	B;B	0.08055	0.003;0.003	T	0.48658	-0.9016	9	0.39692	T	0.17	0.0452	13.518	0.61551	0.0:0.0:0.7179:0.2821	.	1598;1793	P49750-3;P49750-4	.;.	I	1087;1793;1598;1506;202	.	ENSP00000238571:M1598I	M	+	3	0	YLPM1	74349115	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	2.581000	0.46077	1.384000	0.46424	0.650000	0.86243	ATG		0.463	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		6	106	0	0	0	1	0	6	106				
MFF	56947	broad.mit.edu	37	2	228195439	228195439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228195439C>T	ENST00000353339.3	+	4	577	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000476924.1_Intron|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	46					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CATTAGTCAGCGAATGAGGGT	0.463																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(136-138)Cga>Tga		mitochondrial fission factor							89.0	75.0	79.0					2																	228195439		2203	4300	6503	SO:0001587	stop_gained	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228195439C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.136C>T	2.37:g.228195439C>T	ENSP00000302037:p.Arg46*					MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*	p.R46*	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			4	577	+			46					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Nonsense_Mutation	SNP	ENST00000353339.3	37	c.136C>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138563	0.97315	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	.	.	.	5.8	4.87	0.63330	.	0.108684	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5244	13.5124	0.61519	0.3271:0.6729:0.0:0.0	.	.	.	.	X	20;20;46;20;20;20;20;20;20;20;46;20;46	.	ENSP00000304898:R20X	R	+	1	2	MFF	227903683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.257000	0.32932	2.741000	0.93983	0.650000	0.86243	CGA		0.463	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		82	240	0	0	0	1	0	82	240				
RTN1	6252	broad.mit.edu	37	14	60212623	60212623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60212623C>T	ENST00000267484.5	-	2	1153	c.818G>A	c.(817-819)aGg>aAg	p.R273K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	273					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAGGAGCCCTGCGCTGTTC	0.453																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(817-819)aGg>aAg		reticulon 1							135.0	129.0	131.0					14																	60212623		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212623C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.818G>A	14.37:g.60212623C>T	ENSP00000267484:p.Arg273Lys						p.R273K	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	1153	-			273					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.818G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390455	0.11581	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.22134	1.97	5.53	0.326	0.15908	.	1.177410	0.05768	N	0.606107	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.28427	-1.0044	10	0.05525	T	0.97	.	1.0774	0.01635	0.2215:0.3573:0.1084:0.3128	.	273	Q16799	RTN1_HUMAN	K	273;199	ENSP00000267484:R273K	ENSP00000267484:R273K	R	-	2	0	RTN1	59282376	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	0.556000	0.23438	0.036000	0.15547	-0.259000	0.10710	AGG		0.453	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			115	546	0	0	0	1	0	115	546				
GIPC1	10755	broad.mit.edu	37	19	14593528	14593528	+	Silent	SNP	G	G	A	rs559255899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14593528G>A	ENST00000393033.4	-	4	530	c.261C>T	c.(259-261)gcC>gcT	p.A87A	GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000345425.2_Silent_p.A87A|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000591349.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	87					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGAAGGCCTCGGCGATCTTGC	0.652																																					Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(259-261)gcC>gcT		GIPC PDZ domain containing family, member 1							49.0	39.0	42.0					19																	14593528		2203	4300	6503	SO:0001819	synonymous_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14593528G>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.261C>T	19.37:g.14593528G>A						GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000345425.2_Silent_p.A87A	p.A87A	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN			4	530	-			87					A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	c.261C>T	CCDS12310.1																																																																																				0.652	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			30	116	0	0	0	1	0	30	116				
TTN	7273	broad.mit.edu	37	2	179568946	179568946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179568946G>A	ENST00000591111.1	-	104	29424	c.29200C>T	c.(29200-29202)Cga>Tga	p.R9734*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R10051*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13812	Ig-like 78.				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)			TCTTCTGCTCGAACATCTGCA	0.423																																						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.(30151-30153)Cga>Tga		titin							233.0	217.0	222.0					2																	179568946		1907	4130	6037	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179568946G>A	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.29200C>T	2.37:g.179568946G>A	ENSP00000465570:p.Arg9734*					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R9734*	p.R10051*	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)		106	30375	-			9734			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.30151C>T		.	.	.	.	.	.	.	.	.	.	G	60	43.287529	0.99986	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.07	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0665	0.64834	0.0:0.0:0.7462:0.2538	.	.	.	.	X	8807	.	ENSP00000343764:R8807X	R	-	1	2	TTN	179277191	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	5.542000	0.67218	2.885000	0.99019	0.655000	0.94253	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		192	511	0	0	0	1	0	192	511				
LMBR1	64327	broad.mit.edu	37	7	156555863	156555863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156555863C>T	ENST00000353442.5	-	7	794	c.558G>A	c.(556-558)tgG>tgA	p.W186*	LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*|LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	186					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GATAGAACTCCCAGAGATCta	0.289																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(556-558)tgG>tgA		limb development membrane protein 1							23.0	26.0	25.0					7																	156555863		2185	4269	6454	SO:0001587	stop_gained	64327					integral to membrane	receptor activity	g.chr7:156555863C>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.558G>A	7.37:g.156555863C>T	ENSP00000326604:p.Trp186*					LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*	p.W186*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	7	794	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	186					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Nonsense_Mutation	SNP	ENST00000353442.5	37	c.558G>A	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	38	6.944995	0.97952	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0404	18.8532	0.92241	0.0:1.0:0.0:0.0	.	.	.	.	X	186;34;184;186;165;186	.	ENSP00000337803:W186X	W	-	3	0	LMBR1	156248624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.266000	0.58871	2.547000	0.85894	0.655000	0.94253	TGG		0.289	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		16	139	0	0	0	1	0	16	139				
FOXI1	2299	broad.mit.edu	37	5	169533265	169533265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169533265C>T	ENST00000306268.6	+	1	365	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	FOXI1_ENST00000449804.2_Missense_Mutation_p.L102F			Q12951	FOXI1_HUMAN	forkhead box I1	102					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTGTCGGGGCTTGGGGGGAG	0.697									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(304-306)Ctt>Ttt		forkhead box I1							12.0	11.0	11.0					5																	169533265		2192	4277	6469	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533265C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.304C>T	5.37:g.169533265C>T	ENSP00000304286:p.Leu102Phe					FOXI1_ENST00000306268.6_Missense_Mutation_p.L102F	p.L102F	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	349	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	102					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.304C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194894	0.22037	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94613	-3.33;-3.47	4.78	4.78	0.61160	.	0.167611	0.39274	N	0.001411	D	0.87418	0.6172	L	0.28608	0.87	0.40183	D	0.977319	B;B	0.31931	0.347;0.236	B;B	0.28011	0.085;0.039	T	0.83332	-0.0012	10	0.23302	T	0.38	.	6.2189	0.20671	0.0:0.7619:0.0:0.2381	.	102;102	Q12951-2;Q12951	.;FOXI1_HUMAN	F	102	ENSP00000304286:L102F;ENSP00000415483:L102F	ENSP00000304286:L102F	L	+	1	0	FOXI1	169465843	0.664000	0.27457	0.993000	0.49108	0.405000	0.30901	1.050000	0.30404	2.202000	0.70862	0.655000	0.94253	CTT		0.697	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		6	41	0	0	0	1	0	6	41				
ME2	4200	broad.mit.edu	37	18	48447034	48447034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447034C>T	ENST00000321341.5	+	9	1120	c.848C>T	c.(847-849)aCa>aTa	p.T283I	ME2_ENST00000382927.3_Missense_Mutation_p.T283I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	283					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CTTACAGGGACAGCTGCAGTA	0.348																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(847-849)aCa>aTa		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						52.0	55.0	54.0					18																	48447034		2203	4297	6500	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447034C>T	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.848C>T	18.37:g.48447034C>T	ENSP00000321070:p.Thr283Ile					ME2_ENST00000382927.3_Missense_Mutation_p.T283I	p.T283I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	9	1120	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	283					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.848C>T	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809554	0.70797	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.64085	-0.08;-0.08	5.73	5.73	0.89815	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89641	0.3862	10	0.87932	D	0	-26.8303	18.6849	0.91559	0.0:1.0:0.0:0.0	.	283;283	Q9BWL6;P23368	.;MAOM_HUMAN	I	283	ENSP00000321070:T283I;ENSP00000372384:T283I	ENSP00000321070:T283I	T	+	2	0	ME2	46701032	1.000000	0.71417	0.991000	0.47740	0.416000	0.31233	7.791000	0.85805	2.719000	0.93026	0.637000	0.83480	ACA		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		71	262	0	0	0	1	0	71	262				
KLHDC3	116138	broad.mit.edu	37	6	42986629	42986629	+	Silent	SNP	G	G	A	rs34597116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42986629G>A	ENST00000326974.4	+	8	1044	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000332245.8_Silent_p.P224P|KLHDC3_ENST00000244670.8_Silent_p.P149P	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	283					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGATTGAACCGAAGGGGAAGG	0.522																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(847-849)ccG>ccA		kelch domain containing 3							60.0	72.0	68.0					6																	42986629		2202	4300	6502	SO:0001819	synonymous_variant	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986629G>A	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.849G>A	6.37:g.42986629G>A						KLHDC3_ENST00000332245.8_Silent_p.P224P|KLHDC3_ENST00000244670.8_Silent_p.P149P	p.P283P	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		8	1044	+			283					A8K2W9	Silent	SNP	ENST00000326974.4	37	c.849G>A	CCDS4880.1																																																																																				0.522	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		126	606	0	0	0	1	0	126	606				
SLC9A4	389015	broad.mit.edu	37	2	103141507	103141507	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103141507C>A	ENST00000295269.4	+	10	2300	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	615					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAATACAACCTCAAACCCCA	0.488																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1843-1845)Ctc>Atc		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							192.0	206.0	201.0					2																	103141507		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141507C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1843C>A	2.37:g.103141507C>A	ENSP00000295269:p.Leu615Ile						p.L615I	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2300	+			615					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1843C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488560	0.44249	.	.	ENSG00000180251	ENST00000295269	T	0.47528	0.84	5.84	4.03	0.46877	.	0.268148	0.37530	N	0.002059	T	0.64238	0.2580	M	0.75264	2.295	0.32570	N	0.529854	D	0.63046	0.992	D	0.63703	0.917	T	0.74355	-0.3692	10	0.54805	T	0.06	.	12.1068	0.53818	0.0:0.8556:0.0:0.1444	.	615	Q6AI14	SL9A4_HUMAN	I	615	ENSP00000295269:L615I	ENSP00000295269:L615I	L	+	1	0	SLC9A4	102507939	1.000000	0.71417	0.956000	0.39512	0.001000	0.01503	3.026000	0.49689	1.481000	0.48307	-0.152000	0.13540	CTC		0.488	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		346	1056	1	0	9.08309e-95	1	1.16699e-94	346	1056				
FTMT	94033	broad.mit.edu	37	5	121187812	121187812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187812G>A	ENST00000321339.1	+	1	163	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	52					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGGCCGCAGCCGCCTCCTC	0.766																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(154-156)Gcc>Acc		ferritin mitochondrial							6.0	8.0	7.0					5																	121187812		2082	4087	6169	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187812G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.154G>A	5.37:g.121187812G>A	ENSP00000313691:p.Ala52Thr						p.A52T	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	163	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	52						Missense_Mutation	SNP	ENST00000321339.1	37	c.154G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599650	0.28534	.	.	ENSG00000181867	ENST00000321339	T	0.63744	-0.06	3.21	1.22	0.21188	.	.	.	.	.	T	0.38852	0.1056	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18555	-1.0333	9	0.11485	T	0.65	.	1.9809	0.03426	0.1191:0.1819:0.4801:0.2189	.	52	Q8N4E7	FTMT_HUMAN	T	52	ENSP00000313691:A52T	ENSP00000313691:A52T	A	+	1	0	FTMT	121215711	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.002000	0.13061	0.295000	0.22570	0.460000	0.39030	GCC		0.766	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		24	117	0	0	0	1	0	24	117				
USH2A	7399	broad.mit.edu	37	1	215990410	215990410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215990410G>A	ENST00000307340.3	-	48	9885	c.9499C>T	c.(9499-9501)Ctc>Ttc	p.L3167F	USH2A_ENST00000366943.2_Missense_Mutation_p.L3167F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3167	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTTGCAGAGCTCATCACTC	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9499-9501)Ctc>Ttc		Usher syndrome 2A (autosomal recessive, mild)							166.0	152.0	157.0					1																	215990410		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215990410G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9499C>T	1.37:g.215990410G>A	ENSP00000305941:p.Leu3167Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.L3167F	p.L3167F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	48	9885	-			3167			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9499C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	7.214	0.595959	0.13875	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.57;2.56	5.02	0.121	0.14695	Fibronectin, type III (2);	0.468942	0.16745	N	0.201268	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37572	-0.9700	10	0.08837	T	0.75	.	0.8745	0.01221	0.3763:0.2639:0.2076:0.1522	.	3167	O75445	USH2A_HUMAN	F	3167	ENSP00000305941:L3167F;ENSP00000355910:L3167F	ENSP00000305941:L3167F	L	-	1	0	USH2A	214057033	0.000000	0.05858	0.342000	0.25602	0.513000	0.34164	-0.152000	0.10159	0.188000	0.20168	0.561000	0.74099	CTC		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	658	0	0	0	1	0	22	658				
SNX1	6642	broad.mit.edu	37	15	64404870	64404870	+	Missense_Mutation	SNP	G	G	T	rs11551154		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64404870G>T	ENST00000559844.1	+	2	272	c.258G>T	c.(256-258)caG>caT	p.Q86H	SNX1_ENST00000353874.4_Missense_Mutation_p.Q86H|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H|Y_RNA_ENST00000364201.1_RNA|SNX1_ENST00000261889.5_Missense_Mutation_p.Q86H			Q13596	SNX1_HUMAN	sorting nexin 1	86					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGAGCCACAGGATCTCTTTG	0.388																																						ENST00000353874.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(256-258)caG>caT		sorting nexin 1							74.0	68.0	70.0					15																	64404870		2203	4300	6503	SO:0001583	missense	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64404870G>T	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.258G>T	15.37:g.64404870G>T	ENSP00000453785:p.Gln86His					SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000559844.1_Missense_Mutation_p.Q86H|SNX1_ENST00000261889.5_Missense_Mutation_p.Q86H	p.Q86H			Q13596	SNX1_HUMAN			2	294	+			86					A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	c.258G>T	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138485	0.56936	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.46451	0.87;0.87;0.87	5.66	0.545	0.17190	.	0.507362	0.16503	N	0.211577	T	0.45657	0.1353	L	0.29908	0.895	0.45403	D	0.998383	D;D;P;D	0.60575	0.972;0.988;0.934;0.972	P;D;P;P	0.72338	0.873;0.977;0.62;0.796	T	0.22138	-1.0225	10	0.34782	T	0.22	-4.0139	8.7912	0.34852	0.3806:0.0:0.6194:0.0	.	86;86;86;86	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	H	86	ENSP00000369638:Q86H;ENSP00000326668:Q86H;ENSP00000261889:Q86H	ENSP00000261889:Q86H	Q	+	3	2	SNX1	62191923	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	0.719000	0.25881	0.075000	0.16796	-0.258000	0.10820	CAG		0.388	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		31	134	1	0	7.63505e-26	1	8.77765e-26	31	134				
MYO3B	140469	broad.mit.edu	37	2	171070913	171070913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171070913G>A	ENST00000408978.4	+	4	489	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MYO3B_ENST00000334231.6_Missense_Mutation_p.E125K|MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCAGTCACTGAGCTTGTCAA	0.453																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(373-375)Gag>Aag		myosin IIIB							86.0	84.0	85.0					2																	171070913		1967	4167	6134	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171070913G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.346G>A	2.37:g.171070913G>A	ENSP00000386213:p.Glu116Lys					MYO3B_ENST00000408978.4_Missense_Mutation_p.E116K|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K	p.E125K			Q8WXR4	MYO3B_HUMAN			4	373	+			116			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.373G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713704	0.89112	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155107	0.56097	D	0.000028	T	0.60196	0.2250	L	0.33093	0.98	0.58432	D	0.999998	P;P;P;P	0.39131	0.609;0.661;0.604;0.661	B;B;B;B	0.42593	0.287;0.217;0.108;0.392	T	0.64153	-0.6474	10	0.72032	D	0.01	.	19.4119	0.94677	0.0:0.0:1.0:0.0	.	116;116;116;116	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	K	116;116;115;125;125	ENSP00000386497:E116K;ENSP00000386213:E116K;ENSP00000446237:E125K;ENSP00000335100:E125K	ENSP00000314213:E115K	E	+	1	0	MYO3B	170779159	1.000000	0.71417	0.931000	0.37212	0.980000	0.70556	9.378000	0.97191	2.596000	0.87737	0.650000	0.86243	GAG		0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			59	305	0	0	0	1	0	59	305				
ZGRF1	55345	broad.mit.edu	37	4	113502905	113502905	+	Missense_Mutation	SNP	G	G	T	rs200748166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113502905G>T	ENST00000505019.1	-	16	4477	c.4352C>A	c.(4351-4353)aCt>aAt	p.T1451N		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1451						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGGATTTACAGTAGTAAACTT	0.289																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4351-4353)aCt>aAt		chromosome 4 open reading frame 21							86.0	82.0	84.0					4																	113502905		2203	4296	6499	SO:0001583	missense	55345							g.chr4:113502905G>T																												ENST00000505019.1:c.4352C>A	4.37:g.113502905G>T	ENSP00000424737:p.Thr1451Asn						p.T1451N	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	16	4477	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.4352C>A		.	.	.	.	.	.	.	.	.	.	G	6.492	0.458880	0.12342	.	.	ENSG00000138658	ENST00000505019	D	0.81821	-1.54	5.19	1.16	0.20824	.	1.178510	0.06265	N	0.694642	T	0.59252	0.2180	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.47471	-0.9115	10	0.17369	T	0.5	-3.9906	4.3025	0.10932	0.2408:0.0:0.3005:0.4587	.	1451	G5EA02	.	N	1451	ENSP00000424737:T1451N	ENSP00000404365:T349N	T	-	2	0	C4orf21	113722354	0.031000	0.19500	0.001000	0.08648	0.859000	0.49053	0.934000	0.28910	0.640000	0.30582	0.561000	0.74099	ACT		0.289	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			24	110	1	0	5.35356e-11	1	5.69577e-11	24	110				
ZNF627	199692	broad.mit.edu	37	19	11727882	11727882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727882G>A	ENST00000361113.5	+	4	772	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACATGTTAACGCATAGGGGAG	0.413																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(562-564)acG>acA		zinc finger protein 627							85.0	88.0	87.0					19																	11727882		2183	4287	6470	SO:0001819	synonymous_variant	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11727882G>A	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.564G>A	19.37:g.11727882G>A						ZNF627_ENST00000588174.1_3'UTR	p.T188T	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN			4	772	+			188					O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	ENST00000361113.5	37	c.564G>A	CCDS42502.1																																																																																				0.413	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		55	236	0	0	0	1	0	55	236				
DPH6	89978	broad.mit.edu	37	15	35674051	35674051	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35674051A>G	ENST00000256538.4	-	7	660	c.634T>C	c.(634-636)Tgc>Cgc	p.C212R	DPH6_ENST00000560386.1_5'UTR	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	212					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										AATAGAGGGCAATCCAAAGTG	0.313																																						ENST00000256538.4																			0											c.(634-636)Tgc>Cgc		diphthamine biosynthesis 6							94.0	95.0	95.0					15																	35674051		2201	4296	6497	SO:0001583	missense	89978							g.chr15:35674051A>G		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.634T>C	15.37:g.35674051A>G	ENSP00000256538:p.Cys212Arg					DPH6_ENST00000560386.1_5'UTR	p.C212R	NM_080650.3	NP_542381.1					7	660	-								B3KWG1|Q96HJ6	Missense_Mutation	SNP	ENST00000256538.4	37	c.634T>C	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899437	0.72754	.	.	ENSG00000134146	ENST00000256538	T	0.31769	1.48	5.44	5.44	0.79542	Domain of unknown function DUF71, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.79169	-0.1914	10	0.62326	D	0.03	-9.6864	15.6515	0.77099	1.0:0.0:0.0:0.0	.	212	Q7L8W6	ATBD4_HUMAN	R	212	ENSP00000256538:C212R	ENSP00000256538:C212R	C	-	1	0	ATPBD4	33461343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.757000	0.91657	2.270000	0.75569	0.533000	0.62120	TGC		0.313	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650		10	356	0	0	0	1	0	10	356				
ADCY1	107	broad.mit.edu	37	7	45753338	45753338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45753338T>G	ENST00000297323.7	+	20	3126	c.3104T>G	c.(3103-3105)tTt>tGt	p.F1035C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1035	Interaction with calmodulin. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCTACCACTTTGTGTGCCGA	0.537																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(3103-3105)tTt>tGt		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						95.0	89.0	91.0					7																	45753338		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45753338T>G	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3104T>G	7.37:g.45753338T>G	ENSP00000297323:p.Phe1035Cys						p.F1035C	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			20	3126	+			1035			Interaction with calmodulin (By similarity).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.3104T>G	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709070	0.68615	.	.	ENSG00000164742	ENST00000297323	T	0.33438	1.41	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.052646	0.85682	D	0.000000	T	0.33089	0.0851	L	0.39566	1.225	0.53005	D	0.999966	B	0.15473	0.013	B	0.37833	0.259	T	0.14117	-1.0484	10	0.18710	T	0.47	.	14.039	0.64663	0.0:0.0:0.0:1.0	.	1035	Q08828	ADCY1_HUMAN	C	1035	ENSP00000297323:F1035C	ENSP00000297323:F1035C	F	+	2	0	ADCY1	45719863	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	7.599000	0.82757	2.200000	0.70718	0.533000	0.62120	TTT		0.537	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		71	302	0	0	0	1	0	71	302				
TMPRSS11D	9407	broad.mit.edu	37	4	68725349	68725349	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68725349A>G	ENST00000283916.6	-	2	154	c.56T>C	c.(55-57)gTa>gCa	p.V19A	TMPRSS11D_ENST00000509584.1_Intron|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	19					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATGAAACATACTACATATGG	0.388																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(55-57)gTa>gCa		transmembrane protease, serine 11D							105.0	95.0	98.0					4																	68725349		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68725349A>G	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.56T>C	4.37:g.68725349A>G	ENSP00000283916:p.Val19Ala					TMPRSS11D_ENST00000545541.1_Intron|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron	p.V19A	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			2	154	-			19					Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.56T>C	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713069	0.48517	.	.	ENSG00000153802	ENST00000283916	D	0.89050	-2.46	5.19	5.19	0.71726	.	0.542419	0.16615	N	0.206730	D	0.86703	0.5996	M	0.63843	1.955	0.42236	D	0.991915	P	0.46784	0.884	B	0.41466	0.358	D	0.85068	0.0938	10	0.31617	T	0.26	.	11.3687	0.49687	1.0:0.0:0.0:0.0	.	19	O60235	TM11D_HUMAN	A	19	ENSP00000283916:V19A	ENSP00000283916:V19A	V	-	2	0	TMPRSS11D	68407944	0.038000	0.19896	0.005000	0.12908	0.070000	0.16714	4.007000	0.57093	2.184000	0.69523	0.460000	0.39030	GTA		0.388	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		39	204	0	0	0	1	0	39	204				
UHRF1BP1L	23074	broad.mit.edu	37	12	100444940	100444940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100444940C>T	ENST00000279907.7	-	16	3696	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1162										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTAGGTTTGCACCAGCATTC	0.353																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3484-3486)Gca>Aca		UHRF1 binding protein 1-like							130.0	121.0	124.0					12																	100444940		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100444940C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3484G>A	12.37:g.100444940C>T	ENSP00000279907:p.Ala1162Thr					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	p.A1162T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			16	3696	-			1162					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3484G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147265	0.09134	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09630	2.96;2.96	5.03	1.85	0.25348	.	1.509740	0.03722	N	0.252075	T	0.10895	0.0266	L	0.47716	1.5	0.09310	N	0.999999	B	0.18863	0.031	B	0.18263	0.021	T	0.38693	-0.9649	10	0.16420	T	0.52	-0.7108	5.7213	0.17988	0.1524:0.6682:0.0:0.1793	.	1162	A0JNW5	UH1BL_HUMAN	T	1162;812	ENSP00000279907:A1162T;ENSP00000444824:A812T	ENSP00000279907:A1162T	A	-	1	0	UHRF1BP1L	98969071	0.030000	0.19436	0.011000	0.14972	0.009000	0.06853	1.106000	0.31098	0.457000	0.26962	-0.355000	0.07637	GCA		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		89	318	0	0	0	1	0	89	318				
TRPM1	4308	broad.mit.edu	37	15	31362299	31362299	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31362299T>G	ENST00000256552.6	-	4	361	c.214A>C	c.(214-216)Agc>Cgc	p.S72R	TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000542188.1_Missense_Mutation_p.S89R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S50R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTGGGTAGCTCTGGGTGTGC	0.493																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(265-267)Agc>Cgc		transient receptor potential cation channel, subfamily M, member 1							383.0	365.0	371.0					15																	31362299		1945	4150	6095	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362299T>G	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.214A>C	15.37:g.31362299T>G	ENSP00000256552:p.Ser72Arg					TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000256552.6_Missense_Mutation_p.S72R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S50R	p.S89R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	578	-		all_lung(180;1.92e-11)	50						Missense_Mutation	SNP	ENST00000256552.6	37	c.265A>C	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	9.985	1.229159	0.22542	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.81415	-1.49;-1.49;-1.49	6.03	3.52	0.40303	.	0.439281	0.20773	U	0.085936	T	0.80199	0.4579	L	0.31926	0.97	0.09310	N	0.999996	D;B	0.56968	0.978;0.177	P;B	0.60609	0.877;0.122	T	0.69217	-0.5203	10	0.52906	T	0.07	-25.2032	8.0341	0.30482	0.0:0.1021:0.3481:0.5498	.	50;50	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	R	50;89;72;50	ENSP00000380897:S50R;ENSP00000437849:S89R;ENSP00000256552:S72R	ENSP00000256552:S72R	S	-	1	0	TRPM1	29149591	0.893000	0.30496	1.000000	0.80357	0.996000	0.88848	0.322000	0.19576	1.053000	0.40415	0.533000	0.62120	AGC		0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		476	2073	0	0	0	1	0	476	2073				
DNAAF1	123872	broad.mit.edu	37	16	84199527	84199527	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84199527G>A	ENST00000378553.5	+	7	1126	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	DNAAF1_ENST00000334315.5_Silent_p.R334R|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	334					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CAGAGGAGAGGAAAAGACAGA	0.532																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1000-1002)agG>agA		dynein, axonemal, assembly factor 1							160.0	147.0	151.0					16																	84199527		2200	4300	6500	SO:0001819	synonymous_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84199527G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1002G>A	16.37:g.84199527G>A						DNAAF1_ENST00000334315.5_Silent_p.R334R|DNAAF1_ENST00000563818.1_3'UTR	p.R334R	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			7	1126	+			334					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.1002G>A	CCDS10943.2																																																																																				0.532	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		178	615	0	0	0	1	0	178	615				
NGF	4803	broad.mit.edu	37	1	115829086	115829086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829086C>T	ENST00000369512.2	-	3	499	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	111					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TTGAAGGGGGCAGCACCACCG	0.587																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(331-333)Gcc>Acc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						52.0	46.0	48.0					1																	115829086		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829086C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.331G>A	1.37:g.115829086C>T	ENSP00000358525:p.Ala111Thr					RP4-663N10.1_ENST00000425449.1_RNA	p.A111T	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	499	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	111					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.331G>A	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	5.594	0.294351	0.10567	.	.	ENSG00000134259	ENST00000369512	T	0.62232	0.04	5.27	-1.42	0.08913	.	1.018970	0.07813	N	0.958416	T	0.12860	0.0312	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16482	-1.0401	10	0.33141	T	0.24	-7.1349	4.6352	0.12521	0.4107:0.3844:0.0:0.2049	.	111	P01138	NGF_HUMAN	T	111	ENSP00000358525:A111T	ENSP00000358525:A111T	A	-	1	0	NGF	115630609	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	0.400000	0.20932	-0.171000	0.10797	0.467000	0.42956	GCC		0.587	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		45	151	0	0	0	1	0	45	151				
ADAMTS5	11096	broad.mit.edu	37	21	28302267	28302267	+	Silent	SNP	G	G	A	rs201435455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28302267G>A	ENST00000284987.5	-	7	2284	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	721	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATACTCCGCACTTGTCAT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18598	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2161-2163)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 5		G		0,4406		0,0,2203	211.0	188.0	196.0		2163	-3.7	0.8	21		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS5	NM_007038.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		721/931	28302267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28302267G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2163C>T	21.37:g.28302267G>A						AP001601.2_ENST00000426771.1_RNA	p.C721C	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			7	2284	-			721			Cys-rich.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.2163C>T	CCDS13579.1																																																																																				0.443	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			155	589	0	0	0	1	0	155	589				
MGA	23269	broad.mit.edu	37	15	41962075	41962075	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41962075T>C	ENST00000570161.1	+	1	983	c.983T>C	c.(982-984)aTa>aCa	p.I328T	MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Missense_Mutation_p.I328T|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000219905.7_Missense_Mutation_p.I328T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCCTTAATATAAAACGAGAC	0.408																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(982-984)aTa>aCa		MGA, MAX dimerization protein							52.0	51.0	52.0					15																	41962075		1863	4091	5954	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41962075T>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.983T>C	15.37:g.41962075T>C	ENSP00000457035:p.Ile328Thr					MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000570161.1_Missense_Mutation_p.I328T|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000566586.1_Missense_Mutation_p.I328T	p.I328T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	1164	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	328					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.983T>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	7.224	0.597876	0.13939	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83506	-1.73;-1.73;-1.73	5.62	2.93	0.34026	.	1.281880	0.04560	N	0.391515	T	0.71117	0.3302	N	0.22421	0.69	0.22240	N	0.999264	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.003	T	0.56565	-0.7958	10	0.33141	T	0.24	.	2.3255	0.04222	0.0:0.2529:0.2946:0.4525	.	328;328	F5H7K2;E7ENI0	.;.	T	328	ENSP00000219905:I328T;ENSP00000374586:I328T;ENSP00000442467:I328T	ENSP00000219905:I328T	I	+	2	0	MGA	39749367	1.000000	0.71417	0.944000	0.38274	0.946000	0.59487	2.270000	0.43355	1.018000	0.39521	0.383000	0.25322	ATA		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		29	135	0	0	0	1	0	29	135				
PCDHA11	56138	broad.mit.edu	37	5	140249981	140249981	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140249981G>A	ENST00000398640.2	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGTTCGCCTTCTCTGT	0.622																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1291-1293)tcG>tcA									134.0	143.0	140.0					5																	140249981		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140249981G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1293G>A	5.37:g.140249981G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.S431S	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1293	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1293G>A	CCDS47284.1																																																																																				0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		223	915	0	0	0	1	0	223	915				
DICER1	23405	broad.mit.edu	37	14	95582075	95582075	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95582075T>C	ENST00000526495.1	-	13	2127	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	DICER1_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000527414.1_Silent_p.P612P|DICER1_ENST00000393063.1_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	612					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACATATGGTGGGAAAACGT	0.428			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(1834-1836)ccA>ccG		dicer 1, ribonuclease type III							252.0	191.0	212.0					14																	95582075		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95582075T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1836A>G	14.37:g.95582075T>C						DICER1_ENST00000393063.1_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P|DICER1_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000527414.1_Silent_p.P612P	p.P612P			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	13	2127	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	612					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.1836A>G	CCDS9931.1																																																																																				0.428	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			84	343	0	0	0	1	0	84	343				
ROR2	4920	broad.mit.edu	37	9	94486406	94486406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486406C>T	ENST00000375708.3	-	9	2568	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	790	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCTTCTGCTTGGGCCCCA	0.677																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2368-2370)aaG>aaA		receptor tyrosine kinase-like orphan receptor 2							51.0	56.0	54.0					9																	94486406		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486406C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2370G>A	9.37:g.94486406C>T						ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.K790K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2568	-			790			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2370G>A	CCDS6691.1																																																																																				0.677	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			87	441	0	0	0	1	0	87	441				
GUCY2F	2986	broad.mit.edu	37	X	108628419	108628419	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:108628419C>A	ENST00000218006.2	-	16	3340	c.3049G>T	c.(3049-3051)Ggc>Tgc	p.G1017C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1017					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCACGTAAGCCTGTAGATTCC	0.493																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3049-3051)Ggc>Tgc		guanylate cyclase 2F, retinal							125.0	90.0	102.0					X																	108628419		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108628419C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3049G>T	X.37:g.108628419C>A	ENSP00000218006:p.Gly1017Cys						p.G1017C	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			16	3340	-			1017					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.3049G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635813	0.67130	.	.	ENSG00000101890	ENST00000218006	D	0.86497	-2.13	4.24	4.24	0.50183	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.81614	2.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.93696	0.7011	10	0.87932	D	0	.	13.4908	0.61393	0.0:1.0:0.0:0.0	.	1017	P51841	GUC2F_HUMAN	C	1017	ENSP00000218006:G1017C	ENSP00000218006:G1017C	G	-	1	0	GUCY2F	108515075	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	4.778000	0.62368	2.350000	0.79820	0.600000	0.82982	GGC		0.493	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		66	282	1	0	9.4991e-31	1	1.11549e-30	66	282				
ITPR1	3708	broad.mit.edu	37	3	4683897	4683897	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683897A>C	ENST00000443694.2	+	5	487	c.487A>C	c.(487-489)Att>Ctt	p.I163L	ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L|ITPR1_ENST00000302640.8_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	163	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGTTTTATATTCAGCCATT	0.458																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(487-489)Att>Ctt		inositol 1,4,5-trisphosphate receptor, type 1							97.0	99.0	98.0					3																	4683897		1992	4172	6164	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4683897A>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.487A>C	3.37:g.4683897A>C	ENSP00000401671:p.Ile163Leu					ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L|ITPR1_ENST00000443694.2_Missense_Mutation_p.I163L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L	p.I163L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	7	837	+			163			MIR 1.		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.487A>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.262091	0.59431	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.43;-5.43;-5.43;-5.43	5.28	5.28	0.74379	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.88842	2.985	0.40237	D	0.977915	B;B;P;B;B	0.41159	0.066;0.016;0.74;0.008;0.011	B;B;D;B;B	0.69824	0.263;0.419;0.966;0.325;0.192	D	0.98681	1.0692	10	0.62326	D	0.03	.	15.2445	0.73497	1.0:0.0:0.0:0.0	.	163;163;163;163;163	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	L	163	ENSP00000306253:I163L;ENSP00000346595:I163L;ENSP00000405934:I163L;ENSP00000349597:I163L;ENSP00000397885:I163L;ENSP00000440564:I163L;ENSP00000401671:I163L	ENSP00000306253:I163L	I	+	1	0	ITPR1	4658897	1.000000	0.71417	0.818000	0.32626	0.387000	0.30353	7.423000	0.80229	1.997000	0.58415	0.533000	0.62120	ATT		0.458	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		15	172	0	0	0	1	0	15	172				
NEFH	4744	broad.mit.edu	37	22	29881809	29881809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29881809C>T	ENST00000310624.6	+	3	1214	c.1181C>T	c.(1180-1182)gCt>gTt	p.A394V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	394	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCAAGATGGCTCTGGATATA	0.547																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(1180-1182)gCt>gTt		neurofilament, heavy polypeptide							89.0	78.0	82.0					22																	29881809		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29881809C>T		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1181C>T	22.37:g.29881809C>T	ENSP00000311997:p.Ala394Val						p.A394V	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			3	1214	+			394			Coil 2B.|Rod.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.1181C>T	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793327	0.90453	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.90900	-2.75	5.67	5.67	0.87782	Filament (1);	0.278833	0.25720	N	0.028746	D	0.96728	0.8932	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97172	0.9845	10	0.87932	D	0	.	19.8245	0.96612	0.0:1.0:0.0:0.0	.	394	P12036	NFH_HUMAN	V	394	ENSP00000311997:A394V	ENSP00000311997:A394V	A	+	2	0	NEFH	28211809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.692000	0.91855	0.650000	0.86243	GCT		0.547	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		53	253	0	0	0	1	0	53	253				
TBC1D9	23158	broad.mit.edu	37	4	141590134	141590134	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141590134G>A	ENST00000442267.2	-	9	1599	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	509							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCAGCTCCCGCGTTTTCTCT	0.562																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1525-1527)Cgg>Tgg		TBC1 domain family, member 9 (with GRAM domain)							47.0	55.0	52.0					4																	141590134		2164	4280	6444	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141590134G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1525C>T	4.37:g.141590134G>A	ENSP00000411197:p.Arg509Trp						p.R509W	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			9	1599	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	509					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1525C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325543	0.81580	.	.	ENSG00000109436	ENST00000442267	T	0.05258	3.47	5.61	5.61	0.85477	Rab-GAP/TBC domain (1);	0.106323	0.64402	D	0.000006	T	0.23965	0.0580	M	0.79475	2.455	0.51767	D	0.999934	D	0.76494	0.999	D	0.63957	0.92	T	0.00073	-1.2127	10	0.72032	D	0.01	-8.8656	14.7148	0.69259	0.0:0.0:0.8214:0.1786	.	509	Q6ZT07	TBCD9_HUMAN	W	509	ENSP00000411197:R509W	ENSP00000411197:R509W	R	-	1	2	TBC1D9	141809584	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	3.861000	0.56002	2.793000	0.96121	0.655000	0.94253	CGG		0.562	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		18	177	0	0	0	1	0	18	177				
NLRP8	126205	broad.mit.edu	37	19	56466774	56466774	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466774A>C	ENST00000291971.3	+	3	1421	c.1350A>C	c.(1348-1350)caA>caC	p.Q450H	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	450	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAAGCACAACTGGAAGGTC	0.498																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1348-1350)caA>caC		NLR family, pyrin domain containing 8							96.0	94.0	95.0					19																	56466774		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466774A>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1350A>C	19.37:g.56466774A>C	ENSP00000291971:p.Gln450His					NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	p.Q450H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1421	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	450			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1350A>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	5.959	0.360931	0.11296	.	.	ENSG00000179709	ENST00000291971	D	0.83992	-1.79	1.78	-3.56	0.04626	.	.	.	.	.	T	0.77405	0.4125	M	0.62016	1.91	0.09310	N	1	P;B	0.34546	0.456;0.41	B;B	0.39339	0.297;0.275	T	0.65323	-0.6196	9	0.39692	T	0.17	.	3.9769	0.09478	0.2802:0.4107:0.3091:0.0	.	450;450	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	450	ENSP00000291971:Q450H	ENSP00000291971:Q450H	Q	+	3	2	NLRP8	61158586	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.334000	0.01107	-1.427000	0.01992	0.421000	0.28195	CAA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		93	446	0	0	0	1	0	93	446				
WDR90	197335	broad.mit.edu	37	16	708580	708580	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708580G>A	ENST00000293879.4	+	23	2822	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	WDR90_ENST00000549091.1_Missense_Mutation_p.R941H|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	941										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGGACGCCCGCTTCCTGCTG	0.662																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2821-2823)cGc>cAc		WD repeat domain 90							42.0	50.0	47.0					16																	708580		2079	4190	6269	SO:0001583	missense	197335							g.chr16:708580G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2822G>A	16.37:g.708580G>A	ENSP00000293879:p.Arg941His					WDR90_ENST00000293879.4_Missense_Mutation_p.R941H	p.R941H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			23	2914	+		Hepatocellular(780;0.0218)	941					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2822G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	8.143	0.785589	0.16189	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.53423	0.62;3.51	5.12	-2.04	0.07343	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.080706	0.50627	U	0.000119	T	0.32315	0.0825	L	0.50847	1.595	0.09310	N	1	B;B	0.27971	0.066;0.196	B;B	0.18561	0.011;0.022	T	0.15178	-1.0446	10	0.31617	T	0.26	.	7.9236	0.29861	0.3941:0.1034:0.5026:0.0	.	941;941	F8VUX9;Q96KV7	.;WDR90_HUMAN	H	941	ENSP00000448122:R941H;ENSP00000293879:R941H	ENSP00000293879:R941H	R	+	2	0	WDR90	648581	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.987000	0.29603	-0.231000	0.09825	-0.140000	0.14226	CGC		0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		107	359	0	0	0	1	0	107	359				
SCAPER	49855	broad.mit.edu	37	15	77064232	77064232	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77064232T>G	ENST00000563290.1	-	10	1194	c.1099A>C	c.(1099-1101)Act>Cct	p.T367P	SCAPER_ENST00000538941.2_Missense_Mutation_p.T121P|SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	367						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCAGAAGTTCGAACATAA	0.363																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(361-363)Act>Cct		S-phase cyclin A-associated protein in the ER							129.0	123.0	125.0					15																	77064232		1865	4114	5979	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77064232T>G	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1099A>C	15.37:g.77064232T>G	ENSP00000454973:p.Thr367Pro					SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P|SCAPER_ENST00000563290.1_Missense_Mutation_p.T367P	p.T121P	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			10	1300	-			366					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.361A>C	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	6.729	0.503271	0.12822	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.26660	1.83;1.72	5.11	1.21	0.21127	.	0.674263	0.15665	N	0.250695	T	0.20861	0.0502	M	0.65975	2.015	0.19945	N	0.999945	B;B;B	0.31040	0.305;0.002;0.001	B;B;B	0.31614	0.133;0.001;0.001	T	0.20472	-1.0274	10	0.33141	T	0.24	.	0.9449	0.01363	0.1512:0.2691:0.1568:0.4229	.	367;382;121	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	P	367;121;383	ENSP00000326924:T367P;ENSP00000442190:T121P	ENSP00000303560:T383P	T	-	1	0	SCAPER	74851287	0.008000	0.16893	0.154000	0.22540	0.131000	0.20780	0.008000	0.13197	0.351000	0.24027	0.477000	0.44152	ACT		0.363	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		37	376	0	0	0	1	0	37	376				
CCDC88C	440193	broad.mit.edu	37	14	91779704	91779704	+	Missense_Mutation	SNP	T	T	C	rs61743881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91779704T>C	ENST00000389857.6	-	15	2542	c.2456A>G	c.(2455-2457)gAc>gGc	p.D819G		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	819					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCCTTCCTGTCCTTCTCGGC	0.667													T|||	1	0.000199681	0.0	0.0	5008	,	,		17934	0.0		0.001	False		,,,				2504	0.0					ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2455-2457)gAc>gGc		coiled-coil domain containing 88C		T	GLY/ASP	3,4239		0,3,2118	29.0	32.0	31.0		2456	4.9	0.7	14	dbSNP_129	31	25,8451		0,25,4213	yes	missense	CCDC88C	NM_001080414.3	94	0,28,6331	CC,CT,TT		0.295,0.0707,0.2202	benign	819/2029	91779704	28,12690	2121	4238	6359	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91779704T>C		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2456A>G	14.37:g.91779704T>C	ENSP00000374507:p.Asp819Gly						p.D819G	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	2542	-		all_cancers(154;0.0468)	819					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2456A>G	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468627	0.43839	7.07E-4	0.00295	ENSG00000015133	ENST00000389857	T	0.15256	2.44	4.88	4.88	0.63580	.	0.329506	0.22466	U	0.059682	T	0.26702	0.0653	L	0.54323	1.7	0.80722	D	1	P	0.39071	0.658	P	0.46026	0.501	T	0.02797	-1.1109	10	0.87932	D	0	-27.9303	14.4997	0.67711	0.0:0.0:0.0:1.0	.	819	Q9P219	DAPLE_HUMAN	G	819	ENSP00000374507:D819G	ENSP00000374507:D819G	D	-	2	0	CCDC88C	90849457	0.999000	0.42202	0.693000	0.30195	0.632000	0.37999	3.259000	0.51515	1.827000	0.53221	0.459000	0.35465	GAC		0.667	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		7	282	0	0	0	1	0	7	282				
CLEC4M	10332	broad.mit.edu	37	19	7830519	7830519	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7830519C>T	ENST00000327325.5	+	4	332				CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000596707.1_Silent_p.G49G|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000359059.5_Silent_p.G49G|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000595496.1_Silent_p.G49G	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M						antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TTCTTCTTGGCCCAGTGTCCA	0.502																																						ENST00000359059.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(145-147)ggC>ggT		C-type lectin domain family 4, member M							101.0	105.0	104.0					19																	7830519		2203	4300	6503	SO:0001627	intron_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7830519C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.215-5C>T	19.37:g.7830519C>T						CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000596707.1_Silent_p.G49G|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000595496.1_Silent_p.G49G	p.G49G	NM_001144906.1|NM_001144907.1	NP_001138378.1|NP_001138379.1	Q9H2X3	CLC4M_HUMAN			3	265	+			70					A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.147C>T	CCDS12187.1																																																																																				0.502	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		65	308	0	0	0	1	0	65	308				
TCERG1	10915	broad.mit.edu	37	5	145878172	145878172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145878172C>T	ENST00000296702.5	+	16	2343	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	769	FF 2.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGAAAGACCGAGAAGCCTT	0.393																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2305-2307)Cga>Tga		transcription elongation regulator 1							109.0	112.0	111.0					5																	145878172		2203	4300	6503	SO:0001587	stop_gained	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145878172C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2305C>T	5.37:g.145878172C>T	ENSP00000296702:p.Arg769*					TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	p.R769*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2343	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	769			FF 2.		Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	c.2305C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	38	7.176446	0.98114	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.51	1.38	0.22167	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5545	15.1655	0.72821	0.4949:0.5051:0.0:0.0	.	.	.	.	X	769;748	.	ENSP00000296702:R769X	R	+	1	2	TCERG1	145858365	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.224000	0.32539	0.017000	0.15025	0.655000	0.94253	CGA		0.393	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		41	158	0	0	0	1	0	41	158				
ZFP36L2	678	broad.mit.edu	37	2	43451467	43451467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43451467G>A	ENST00000282388.3	-	2	1769	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	492					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCAGTCGTCGGAGATGGAGA	0.667																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(1474-1476)tcC>tcT		ZFP36 ring finger protein-like 2							8.0	10.0	10.0					2																	43451467		2162	4260	6422	SO:0001819	synonymous_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43451467G>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1476C>T	2.37:g.43451467G>A						THADA_ENST00000330266.7_Intron	p.S492S	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1769	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	492					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	c.1476C>T	CCDS1811.1																																																																																				0.667	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		14	43	0	0	0	1	0	14	43				
FBN3	84467	broad.mit.edu	37	19	8155129	8155129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8155129C>T	ENST00000600128.1	-	49	6452	c.6038G>A	c.(6037-6039)cGg>cAg	p.R2013Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q			Q75N90	FBN3_HUMAN	fibrillin 3	2013						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAACTCTGCCGTGTGTCTGT	0.612																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6037-6039)cGg>cAg		fibrillin 3							42.0	43.0	43.0					19																	8155129		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8155129C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6038G>A	19.37:g.8155129C>T	ENSP00000470498:p.Arg2013Gln					FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q	p.R2013Q			Q75N90	FBN3_HUMAN			49	6452	-			2013					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6038G>A	CCDS12196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761022|4.761022	0.89932|0.89932	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.87256	.|-2.23	4.58|4.58	3.53|3.53	0.40419|0.40419	.|Matrix fibril-associated (2);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.91885|0.91885	0.7431|0.7431	M|M	0.73217|0.73217	2.22|2.22	0.53005|0.53005	D|D	0.999969|0.999969	.|D	.|0.76494	.|0.999	.|D	.|0.72625	.|0.978	D|D	0.91842|0.91842	0.5484|0.5484	6|10	0.11794|0.62326	T|D	0.64|0.03	.|.	12.7286|12.7286	0.57185|0.57185	0.0:0.919:0.0:0.081|0.0:0.919:0.0:0.081	.|.	.|2013	.|Q75N90	.|FBN3_HUMAN	S|Q	133|2013	.|ENSP00000270509:R2013Q	ENSP00000341317:G133S|ENSP00000270509:R2013Q	G|R	-|-	1|2	0|0	FBN3|FBN3	8061129|8061129	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.945000|0.945000	0.59286|0.59286	5.547000|5.547000	0.67249|0.67249	0.908000|0.908000	0.36671|0.36671	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		42	193	0	0	0	1	0	42	193				
TONSL	4796	broad.mit.edu	37	8	145666464	145666464	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145666464A>G	ENST00000409379.3	-	8	925	c.896T>C	c.(895-897)cTg>cCg	p.L299P	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	299					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGCCTCTTCCAGCTGTTGCTG	0.637																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(895-897)cTg>cCg		tonsoku-like, DNA repair protein							58.0	57.0	58.0					8																	145666464		2203	4298	6501	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145666464A>G		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.896T>C	8.37:g.145666464A>G	ENSP00000386239:p.Leu299Pro						p.L299P	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			8	925	-			299					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.896T>C	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585666	0.46110	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.78364	-1.17	5.45	4.25	0.50352	Tetratricopeptide repeat-containing (1);	0.515774	0.19909	N	0.103339	D	0.85186	0.5639	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84339	0.0526	10	0.66056	D	0.02	-9.2436	9.7074	0.40225	0.8445:0.0:0.0:0.1555	.	299	Q96HA7	TONSL_HUMAN	P	299	ENSP00000386239:L299P	ENSP00000386239:L299P	L	-	2	0	TONSL	145637272	1.000000	0.71417	0.984000	0.44739	0.243000	0.25628	4.253000	0.58791	0.854000	0.35336	0.459000	0.35465	CTG		0.637	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		55	310	0	0	0	1	0	55	310				
SIGLEC1	6614	broad.mit.edu	37	20	3679957	3679957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3679957G>T	ENST00000344754.4	-	7	1677	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	560	Ig-like C2-type 5.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGGAGCAGGAGGCTGCTGCCG	0.672																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1678-1680)Ctc>Atc		sialic acid binding Ig-like lectin 1, sialoadhesin							32.0	25.0	27.0					20																	3679957		2203	4299	6502	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3679957G>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1678C>A	20.37:g.3679957G>T	ENSP00000341141:p.Leu560Ile					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	p.L560I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			7	1677	-			560			Ig-like C2-type 5.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1678C>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613571	0.66672	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15139	2.45;2.45	5.46	1.33	0.21861	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.209012	0.24291	N	0.039819	T	0.42877	0.1222	M	0.89785	3.06	0.27241	N	0.959146	D;D	0.62365	0.991;0.988	D;D	0.72625	0.978;0.962	T	0.29610	-1.0006	10	0.72032	D	0.01	.	7.8901	0.29674	0.3358:0.0:0.6642:0.0	.	560;560	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	I	560	ENSP00000341141:L560I;ENSP00000202578:L560I	ENSP00000202578:L560I	L	-	1	0	SIGLEC1	3627957	0.749000	0.28305	0.994000	0.49952	0.835000	0.47333	0.571000	0.23669	0.029000	0.15352	-0.136000	0.14681	CTC		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		17	56	1	0	9.16793e-09	1	9.60025e-09	17	56				
MUSK	4593	broad.mit.edu	37	9	113509922	113509922	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113509922T>G	ENST00000374448.4	+	7	889	c.755T>G	c.(754-756)gTt>gGt	p.V252G	MUSK_ENST00000189978.5_Splice_Site_p.V252G|MUSK_ENST00000416899.2_Splice_Site_p.V252G	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	252	Ig-like 3.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTCTGTCAGGTTTCTTCTGGG	0.403																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.e7-1		muscle, skeletal, receptor tyrosine kinase							156.0	145.0	148.0					9																	113509922		1861	4116	5977	SO:0001630	splice_region_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113509922T>G	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.754-1T>G	9.37:g.113509922T>G						MUSK_ENST00000374448.4_Splice_Site_p.V252_splice|MUSK_ENST00000189978.5_Splice_Site_p.V252_splice	p.V252_splice			O15146	MUSK_HUMAN			7	881	+			252			Ig-like 3.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Splice_Site	SNP	ENST00000374448.4	37	c.753_splice	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565685	0.65651	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.14144	2.53	5.78	4.63	0.57726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.171752	0.51477	N	0.000083	T	0.36744	0.0978	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.989	T	0.14504	-1.0470	10	0.87932	D	0	.	11.383	0.49768	0.0:0.0:0.1518:0.8482	.	252;262	O15146;F5H6T2	MUSK_HUMAN;.	G	252;252;252;262;262;252	ENSP00000363571:V252G	ENSP00000189978:V252G	V	+	2	0	MUSK	112549743	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.359000	0.52292	0.994000	0.38892	0.533000	0.62120	GTT		0.403	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation	32	696	0	0	0	1	0	32	696				
OSMR	9180	broad.mit.edu	37	5	38923316	38923316	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38923316T>A	ENST00000274276.3	+	13	2232	c.1830T>A	c.(1828-1830)gcT>gcA	p.A610A		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	610	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAGGATTGCTTGTTTATTAG	0.343																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1828-1830)gcT>gcA		oncostatin M receptor							79.0	82.0	81.0					5																	38923316		2203	4300	6503	SO:0001819	synonymous_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38923316T>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1830T>A	5.37:g.38923316T>A							p.A610A	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			13	2232	+	all_lung(31;0.000365)		610			Fibronectin type-III 3.		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.1830T>A	CCDS3928.1																																																																																				0.343	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		64	265	0	0	0	1	0	64	265				
POLRMT	5442	broad.mit.edu	37	19	629970	629970	+	Missense_Mutation	SNP	C	C	T	rs113148837	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629970C>T	ENST00000588649.2	-	3	476	c.392G>A	c.(391-393)cGg>cAg	p.R131Q		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	131					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGGTCCGCTTATCCTT	0.637													C|||	4	0.000798722	0.0023	0.0	5008	,	,		17716	0.001		0.0	False		,,,				2504	0.0					ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(391-393)cGg>cAg		polymerase (RNA) mitochondrial (DNA directed)		C	GLN/ARG	13,4393	20.2+/-43.8	0,13,2190	46.0	43.0	44.0		392	-8.3	0.0	19	dbSNP_132	44	0,8600		0,0,4300	no	missense	POLRMT	NM_005035.3	43	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	benign	131/1231	629970	13,12993	2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:629970C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.392G>A	19.37:g.629970C>T	ENSP00000465759:p.Arg131Gln						p.R131Q	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	476	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	131					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.392G>A	CCDS12036.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.874	0.728691	0.15507	0.002951	0.0	ENSG00000099821	ENST00000215591	T	0.42900	0.96	4.16	-8.32	0.00996	.	1.256700	0.05662	N	0.587128	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12682	-1.0538	10	0.30854	T	0.27	-3.4379	2.1405	0.03774	0.1904:0.2481:0.0948:0.4667	.	131	O00411	RPOM_HUMAN	Q	131	ENSP00000215591:R131Q	ENSP00000215591:R131Q	R	-	2	0	POLRMT	580970	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.052000	0.01401	-2.047000	0.00908	-0.459000	0.05422	CGG		0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		6	315	0	0	0	1	0	6	315				
PLCG2	5336	broad.mit.edu	37	16	81979814	81979814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81979814C>T	ENST00000359376.3	+	31	3730	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1172					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGGGTACAGCGAGGACATAG	0.488																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3514-3516)agC>agT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							164.0	162.0	163.0					16																	81979814		1968	4160	6128	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81979814C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3516C>T	16.37:g.81979814C>T							p.S1172S	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			31	3730	+			1172					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.3516C>T	CCDS42204.1																																																																																				0.488	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			162	490	0	0	0	1	0	162	490				
MARCH2	51257	broad.mit.edu	37	19	8486755	8486755	+	Missense_Mutation	SNP	G	G	T	rs562445340		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8486755G>T	ENST00000602117.1	+	2	486	c.31G>T	c.(31-33)Ggc>Tgc	p.G11C	MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	11					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCACCTCCCCGGCTCCCTGTG	0.672																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(31-33)Ggc>Tgc		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							46.0	47.0	47.0					19																	8486755		2203	4300	6503	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8486755G>T	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.31G>T	19.37:g.8486755G>T	ENSP00000471536:p.Gly11Cys					MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C|MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C	p.G11C			Q9P0N8	MARH2_HUMAN			2	486	+			11					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.31G>T	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977229	0.92982	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.15952	2.38;2.38;2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12142	-1.0559	10	0.62326	D	0.03	-35.6497	18.284	0.90108	0.0:0.0:1.0:0.0	.	11;11	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	C	11	ENSP00000377518:G11C;ENSP00000215555:G11C;ENSP00000370423:G11C	ENSP00000215555:G11C	G	+	1	0	MARCH2	8392755	1.000000	0.71417	0.962000	0.40283	0.921000	0.55340	7.633000	0.83260	2.660000	0.90430	0.555000	0.69702	GGC		0.672	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		59	330	1	0	2.59843e-28	1	3.0222e-28	59	330				
ANAPC4	29945	broad.mit.edu	37	4	25393972	25393972	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25393972C>A	ENST00000315368.3	+	10	860	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGAAACTAATCTGTTGTACTC	0.358																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(718-720)Ctg>Atg		anaphase promoting complex subunit 4							164.0	153.0	157.0					4																	25393972		2202	4300	6502	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25393972C>A	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.718C>A	4.37:g.25393972C>A	ENSP00000318775:p.Leu240Met					ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	p.L240M	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			10	860	+		Breast(46;0.0503)	240					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.718C>A	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177817	0.57692	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.36878	1.24;1.23	5.72	5.72	0.89469	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.63843	1.955	0.47123	D	0.999326	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.55418	-0.8144	10	0.59425	D	0.04	-12.3556	11.2235	0.48869	0.0:0.859:0.0:0.141	.	240;240;240	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	M	240	ENSP00000318775:L240M;ENSP00000426654:L240M	ENSP00000318775:L240M	L	+	1	2	ANAPC4	25003070	0.929000	0.31497	0.971000	0.41717	0.830000	0.47004	1.862000	0.39448	2.711000	0.92665	0.655000	0.94253	CTG		0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		44	234	1	0	2.13384e-23	1	2.42615e-23	44	234				
NCAPH	23397	broad.mit.edu	37	2	97007618	97007618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97007618C>T	ENST00000240423.4	+	2	301	c.258C>T	c.(256-258)gcC>gcT	p.A86A	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000455200.1_Silent_p.A75A	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	86					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GCTTATTGGCCTCCCCCTCCA	0.572																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(223-225)gcC>gcT		non-SMC condensin I complex, subunit H							72.0	74.0	73.0					2																	97007618		2203	4300	6503	SO:0001819	synonymous_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97007618C>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.258C>T	2.37:g.97007618C>T						NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Silent_p.A86A	p.A75A			Q15003	CND2_HUMAN			2	520	+		Ovarian(717;0.0221)	86					B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	c.225C>T	CCDS2021.1																																																																																				0.572	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		97	494	0	0	0	1	0	97	494				
HTR1A	3350	broad.mit.edu	37	5	63256399	63256399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256399G>A	ENST00000323865.3	-	1	1381	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	383					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ATTGATTATGGCGCCCAACAG	0.507																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1147-1149)gCc>gTc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						158.0	166.0	163.0					5																	63256399		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256399G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1148C>T	5.37:g.63256399G>A	ENSP00000316244:p.Ala383Val					RP11-158J3.2_ENST00000502882.1_RNA	p.A383V	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1381	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	383					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1148C>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782245	0.70222	.	.	ENSG00000178394	ENST00000323865	T	0.36157	1.27	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.114707	0.64402	D	0.000018	T	0.45776	0.1359	L	0.43152	1.355	0.51233	D	0.999912	P	0.51537	0.946	P	0.55667	0.781	T	0.31308	-0.9948	10	0.54805	T	0.06	.	13.7557	0.62935	0.0:0.0:0.8465:0.1535	.	383	P08908	5HT1A_HUMAN	V	383	ENSP00000316244:A383V	ENSP00000316244:A383V	A	-	2	0	HTR1A	63292155	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.390000	0.44416	2.692000	0.91855	0.655000	0.94253	GCC		0.507	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		208	1064	0	0	0	1	0	208	1064				
KIAA1462	57608	broad.mit.edu	37	10	30315241	30315241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315241G>A	ENST00000375377.1	-	3	3937	c.3836C>T	c.(3835-3837)gCc>gTc	p.A1279V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1279					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGGAGTCGGCATTCCTGAA	0.632																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3835-3837)gCc>gTc		KIAA1462							48.0	47.0	47.0					10																	30315241		1939	4134	6073	SO:0001583	missense	57608							g.chr10:30315241G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3836C>T	10.37:g.30315241G>A	ENSP00000364526:p.Ala1279Val						p.A1279V	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3937	-			1279					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3836C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089268	0.55968	.	.	ENSG00000165757	ENST00000375377	T	0.17528	2.27	5.44	2.35	0.29111	.	0.898410	0.09575	N	0.783702	T	0.25044	0.0608	L	0.59436	1.845	0.09310	N	1	P	0.42296	0.775	B	0.42282	0.382	T	0.27872	-1.0061	10	0.66056	D	0.02	-2.1189	16.3529	0.83224	0.0:0.3723:0.6277:0.0	.	1279	Q9P266	K1462_HUMAN	V	1279	ENSP00000364526:A1279V	ENSP00000364526:A1279V	A	-	2	0	KIAA1462	30355247	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	2.173000	0.42472	0.632000	0.30432	0.655000	0.94253	GCC		0.632	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		29	331	0	0	0	1	0	29	331				
ABCA4	24	broad.mit.edu	37	1	94528169	94528169	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94528169A>G	ENST00000370225.3	-	13	1987	c.1901T>C	c.(1900-1902)cTc>cCc	p.L634P	ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	634					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATCTGCTGGAGGTAGATTCC	0.592																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1900-1902)cTc>cCc		ATP-binding cassette, sub-family A (ABC1), member 4							75.0	73.0	74.0					1																	94528169		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94528169A>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1901T>C	1.37:g.94528169A>G	ENSP00000359245:p.Leu634Pro					ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	p.L634P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	13	1987	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	634					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1901T>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537521	0.85917	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.89552	-2.53;-2.53	4.95	4.95	0.65309	.	0.167184	0.41823	D	0.000818	D	0.94006	0.8080	M	0.87827	2.91	0.80722	D	1	D;P	0.71674	0.998;0.596	D;B	0.72075	0.976;0.324	D	0.95079	0.8211	10	0.87932	D	0	.	14.7803	0.69760	1.0:0.0:0.0:0.0	.	634;634	F5H6E5;P78363	.;ABCA4_HUMAN	P	634	ENSP00000359245:L634P;ENSP00000437682:L634P	ENSP00000359245:L634P	L	-	2	0	ABCA4	94300757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.037000	0.93765	2.079000	0.62486	0.459000	0.35465	CTC		0.592	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	219	0	0	0	1	0	9	219				
ARPC2	10109	broad.mit.edu	37	2	219099092	219099092	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219099092C>T	ENST00000295685.10	+	4	501	c.240C>T	c.(238-240)taC>taT	p.Y80Y	ARPC2_ENST00000315717.5_Silent_p.Y80Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	80					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGAGGGTGTACGGGAGTTTCT	0.328																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(238-240)taC>taT		actin related protein 2/3 complex, subunit 2, 34kDa							125.0	129.0	128.0					2																	219099092		2203	4300	6503	SO:0001819	synonymous_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099092C>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.240C>T	2.37:g.219099092C>T						ARPC2_ENST00000315717.5_Silent_p.Y80Y	p.Y80Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	4	501	+		Renal(207;0.0474)	80					Q92801|Q9P1D4	Silent	SNP	ENST00000295685.10	37	c.240C>T	CCDS2410.1																																																																																				0.328	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		126	412	0	0	0	1	0	126	412				
FRYL	285527	broad.mit.edu	37	4	48578084	48578084	+	Missense_Mutation	SNP	G	G	A	rs368798359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48578084G>A	ENST00000503238.1	-	21	2683	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	FRYL_ENST00000358350.4_Missense_Mutation_p.A895V|FRYL_ENST00000264319.7_5'UTR|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000537810.1_Missense_Mutation_p.A895V|FRYL_ENST00000507711.1_Missense_Mutation_p.A895V			O94915	FRYL_HUMAN	FRY-like	895					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGGGTAGACGCCAGCGTCTC	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15934	0.0		0.0	False		,,,				2504	0.0					ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2683-2685)gCg>gTg		FRY-like		G	VAL/ALA	1,3805		0,1,1902	131.0	132.0	132.0		2684	5.3	1.0	4		132	0,8276		0,0,4138	no	missense	FRYL	NM_015030.1	64	0,1,6040	AA,AG,GG		0.0,0.0263,0.0083	probably-damaging	895/3014	48578084	1,12081	1903	4138	6041	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48578084G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2684C>T	4.37:g.48578084G>A	ENSP00000426064:p.Ala895Val					FRYL_ENST00000507711.1_Missense_Mutation_p.A895V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.A895V|FRYL_ENST00000537810.1_Missense_Mutation_p.A895V	p.A895V	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			24	3288	-			895					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2684C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967701	0.74131	2.63E-4	0.0	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.68439	0.3001	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.979	D;B	0.65874	0.939;0.359	T	0.70479	-0.4860	10	0.62326	D	0.03	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	895;895	F2Z2S2;O94915	.;FRYL_HUMAN	V	895	ENSP00000426064:A895V;ENSP00000351113:A895V;ENSP00000441114:A895V;ENSP00000421584:A895V	ENSP00000351113:A895V	A	-	2	0	FRYL	48272841	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	7.623000	0.83113	2.430000	0.82344	0.467000	0.42956	GCG		0.448	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			117	596	0	0	0	1	0	117	596				
DNAJC13	23317	broad.mit.edu	37	3	132180039	132180039	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132180039A>C	ENST00000260818.6	+	15	1951	c.1703A>C	c.(1702-1704)aAa>aCa	p.K568T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	568					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCCTTTTTAAACTTTTTCAG	0.393																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1702-1704)aAa>aCa		DnaJ (Hsp40) homolog, subfamily C, member 13							128.0	127.0	127.0					3																	132180039		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132180039A>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1703A>C	3.37:g.132180039A>C	ENSP00000260818:p.Lys568Thr					DNAJC13_ENST00000486798.1_3'UTR	p.K568T	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			15	1951	+			568					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1703A>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324850	0.81580	.	.	ENSG00000138246	ENST00000260818	T	0.37584	1.19	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.77103	2.36	0.58432	D	0.999998	P;P	0.47302	0.893;0.759	B;B	0.43536	0.423;0.202	T	0.54563	-0.8275	10	0.62326	D	0.03	.	15.7657	0.78126	1.0:0.0:0.0:0.0	.	568;568	A7E2Y5;O75165	.;DJC13_HUMAN	T	568	ENSP00000260818:K568T	ENSP00000260818:K568T	K	+	2	0	DNAJC13	133662729	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.526000	0.81920	2.187000	0.69744	0.460000	0.39030	AAA		0.393	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		78	362	0	0	0	1	0	78	362				
ST13	6767	broad.mit.edu	37	22	41252472	41252472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41252472T>C	ENST00000216218.3	-	1	554	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	XPNPEP3_ENST00000414396.1_5'Flank|XPNPEP3_ENST00000541156.1_5'Flank|XPNPEP3_ENST00000357137.4_5'Flank	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	25					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATTTCCTCGGTGTGCAGAACG	0.642																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(73-75)Acc>Gcc		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							60.0	64.0	62.0					22																	41252472		2203	4300	6503	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41252472T>C		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.73A>G	22.37:g.41252472T>C	ENSP00000216218:p.Thr25Ala						p.T25A	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			1	554	-			25					O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.73A>G	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529592	0.44969	.	.	ENSG00000100380	ENST00000216218;ENST00000542699;ENST00000401032	T	0.16597	2.33	5.52	4.49	0.54785	.	0.387108	0.32578	N	0.005907	T	0.13970	0.0338	L	0.55743	1.74	0.29955	N	0.819911	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.0	T	0.28586	-1.0039	10	0.08381	T	0.77	.	7.7736	0.29023	0.0:0.162:0.0:0.838	.	25;25	B4E0U6;P50502	.;F10A1_HUMAN	A	25	ENSP00000216218:T25A	ENSP00000216218:T25A	T	-	1	0	ST13	39582418	0.974000	0.33945	1.000000	0.80357	0.985000	0.73830	0.256000	0.18351	1.115000	0.41800	0.460000	0.39030	ACC		0.642	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		92	500	0	0	0	1	0	92	500				
CCNI	10983	broad.mit.edu	37	4	77976531	77976531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77976531G>A	ENST00000237654.4	-	6	1038	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CCNI_ENST00000504697.1_5'Flank|CCNI_ENST00000537948.1_Silent_p.F140F	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	154					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CAATGGCATGGAACTGAAAAT	0.333																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(460-462)ttC>ttT		cyclin I							65.0	62.0	63.0					4																	77976531		2203	4300	6503	SO:0001819	synonymous_variant	10983				spermatogenesis			g.chr4:77976531G>A	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.462C>T	4.37:g.77976531G>A						CCNI_ENST00000537948.1_Silent_p.F140F	p.F154F	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			6	1038	-			154					B2R6M0|B7Z6X4	Silent	SNP	ENST00000237654.4	37	c.462C>T	CCDS3580.1																																																																																				0.333	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		10	135	0	0	0	1	0	10	135				
SNCB	6620	broad.mit.edu	37	5	176053475	176053475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176053475G>A	ENST00000310112.3	-	5	456	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SNCB_ENST00000393693.2_Missense_Mutation_p.A69V|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000506696.1_Missense_Mutation_p.A69V|SNCB_ENST00000510387.1_Missense_Mutation_p.A69V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	69					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAACACAGCTCCTCCCAG	0.582																																						ENST00000310112.3																			0				breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(205-207)gCt>gTt		synuclein, beta							130.0	103.0	112.0					5																	176053475		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176053475G>A	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.206C>T	5.37:g.176053475G>A	ENSP00000308057:p.Ala69Val					SNCB_ENST00000510387.1_Missense_Mutation_p.A69V|SNCB_ENST00000393693.2_Missense_Mutation_p.A69V|SNCB_ENST00000506696.1_Missense_Mutation_p.A69V	p.A69V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	456	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	69					Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.206C>T	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676133	0.88445	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.36	4.36	0.52297	.	0.099316	0.42172	D	0.000758	D	0.91219	0.7233	L	0.54965	1.715	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	D	0.92262	0.5818	10	0.72032	D	0.01	-8.5917	17.4511	0.87592	0.0:0.0:1.0:0.0	.	69	Q16143	SYUB_HUMAN	V	69	ENSP00000308057:A69V;ENSP00000377296:A69V;ENSP00000424073:A69V;ENSP00000422223:A69V	ENSP00000308057:A69V	A	-	2	0	SNCB	175986081	1.000000	0.71417	0.972000	0.41901	0.953000	0.61014	5.539000	0.67199	2.434000	0.82447	0.462000	0.41574	GCT		0.582	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		72	319	0	0	0	1	0	72	319				
ZNF561	93134	broad.mit.edu	37	19	9721015	9721015	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9721015C>T	ENST00000302851.3	-	6	1685	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GGTATGAGTTCGCAGGTGAAC	0.418																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(1321-1323)cGa>cAa		zinc finger protein 561							152.0	146.0	148.0					19																	9721015		2203	4300	6503	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721015C>T	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1322G>A	19.37:g.9721015C>T	ENSP00000303915:p.Arg441Gln					ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q	p.R441Q	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			6	1685	-			441					B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.1322G>A	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592903	0.28357	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.02369	4.32;4.32;4.32	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.11665	-1.0578	9	0.66056	D	0.02	.	8.1044	0.30877	0.0:1.0:0.0:0.0	.	441	Q8N587	ZN561_HUMAN	Q	372;441;305	ENSP00000393074:R372Q;ENSP00000303915:R441Q;ENSP00000346687:R305Q	ENSP00000303915:R441Q	R	-	2	0	ZNF561	9582015	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.801000	0.04550	0.905000	0.36596	0.298000	0.19748	CGA		0.418	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		143	727	0	0	0	1	0	143	727				
ZNF141	7700	broad.mit.edu	37	4	367319	367319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367319C>T	ENST00000240499.7	+	4	1242	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	365					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TACTGGAGAGCGGCCCTACAA	0.408																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1093-1095)Cgg>Tgg		zinc finger protein 141							38.0	40.0	40.0					4																	367319		2203	4299	6502	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367319C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1093C>T	4.37:g.367319C>T	ENSP00000240499:p.Arg365Trp					ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.R365W	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1242	+			365					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1093C>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212050	0.58452	.	.	ENSG00000131127	ENST00000240499	T	0.20332	2.08	1.24	-0.479	0.12089	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32556	0.0833	M	0.68317	2.08	0.23036	N	0.998398	D	0.56746	0.977	P	0.58780	0.845	T	0.14227	-1.0480	8	.	.	.	.	5.2197	0.15362	0.6988:0.3011:0.0:0.0	.	365	Q15928	ZN141_HUMAN	W	365	ENSP00000240499:R365W	.	R	+	1	2	ZNF141	357319	0.822000	0.29219	0.010000	0.14722	0.560000	0.35617	1.523000	0.35932	-0.405000	0.07599	-0.875000	0.02981	CGG		0.408	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		72	236	0	0	0	1	0	72	236				
CECR2	27443	broad.mit.edu	37	22	18031740	18031740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18031740G>A	ENST00000400585.2	+	18	4248	c.3810G>A	c.(3808-3810)tcG>tcA	p.S1270S	CECR2_ENST00000400573.5_Silent_p.S1412S|CECR2_ENST00000262608.8_Silent_p.S1413S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1454					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGTCCAGTCGCAGGCCTCGT	0.507																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(4237-4239)tcG>tcA		cat eye syndrome chromosome region, candidate 2							69.0	73.0	72.0					22																	18031740		2080	4208	6288	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18031740G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3810G>A	22.37:g.18031740G>A						CECR2_ENST00000400585.2_Silent_p.S1270S|CECR2_ENST00000400573.4_Silent_p.S1412S	p.S1413S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	17	4239	+		all_epithelial(15;0.139)	1454					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37	c.4239G>A																																																																																					0.507	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		57	318	0	0	0	1	0	57	318				
SRMS	6725	broad.mit.edu	37	20	62172627	62172627	+	Missense_Mutation	SNP	C	C	T	rs139360881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62172627C>T	ENST00000217188.1	-	7	1242	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGAGAAGACACGATAATTGGC	0.617																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1201-1203)cGt>cAt		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites		C	HIS/ARG	0,4406		0,0,2203	108.0	115.0	113.0		1202	1.8	0.0	20	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRMS	NM_080823.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	401/489	62172627	1,13005	2203	4300	6503	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172627C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1202G>A	20.37:g.62172627C>T	ENSP00000217188:p.Arg401His						p.R401H	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1242	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		401			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1202G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546856	0.13312	0.0	1.16E-4	ENSG00000125508	ENST00000217188	D	0.83075	-1.68	4.83	1.78	0.24846	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.386473	0.21692	N	0.070556	T	0.74816	0.3766	L	0.42245	1.32	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.65401	-0.6177	10	0.66056	D	0.02	.	9.3378	0.38060	0.0:0.6934:0.0:0.3066	.	401	Q9H3Y6	SRMS_HUMAN	H	401	ENSP00000217188:R401H	ENSP00000217188:R401H	R	-	2	0	SRMS	61643071	0.034000	0.19679	0.000000	0.03702	0.007000	0.05969	0.815000	0.27253	0.193000	0.20303	-0.263000	0.10527	CGT		0.617	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		161	764	0	0	0	1	0	161	764				
NPR3	4883	broad.mit.edu	37	5	32739076	32739076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32739076G>T	ENST00000265074.8	+	3	1342	c.999G>T	c.(997-999)gaG>gaT	p.E333D	NPR3_ENST00000415167.2_Missense_Mutation_p.E333D|NPR3_ENST00000415685.2_Missense_Mutation_p.E117D|NPR3_ENST00000434067.2_Missense_Mutation_p.E117D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	333					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGAGTTTGAGAAGTTTTCCA	0.453																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(997-999)gaG>gaT		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						128.0	125.0	126.0					5																	32739076		1881	4103	5984	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32739076G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.999G>T	5.37:g.32739076G>T	ENSP00000265074:p.Glu333Asp					NPR3_ENST00000415685.2_Missense_Mutation_p.E117D|NPR3_ENST00000434067.2_Missense_Mutation_p.E117D|NPR3_ENST00000415167.2_Missense_Mutation_p.E333D	p.E333D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			3	1342	+			333					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.999G>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170557	0.38315	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	6.04	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.046579	0.85682	D	0.000000	D	0.88265	0.6390	M	0.61703	1.905	0.52501	D	0.999953	P;B;D;D	0.63880	0.632;0.446;0.993;0.993	B;B;D;D	0.72338	0.18;0.137;0.977;0.977	D	0.85435	0.1151	10	0.13853	T	0.58	-19.2395	15.0721	0.72046	0.0673:0.0:0.9327:0.0	.	117;117;333;333	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	D	110;117;117;333;333	ENSP00000425325:E110D;ENSP00000388408:E117D;ENSP00000402490:E117D;ENSP00000265074:E333D;ENSP00000398028:E333D	ENSP00000265074:E333D	E	+	3	2	NPR3	32774833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.257000	0.51500	1.571000	0.49722	0.561000	0.74099	GAG		0.453	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		11	431	1	0	3.07112e-06	1	3.16074e-06	11	431				
MTMR14	64419	broad.mit.edu	37	3	9726338	9726338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726338G>A	ENST00000296003.4	+	11	1156	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H|MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	345					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCCCTCCTGCGCCTTTCCTTG	0.587																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(1033-1035)cGc>cAc		myotubularin related protein 14							113.0	109.0	110.0					3																	9726338		1976	4146	6122	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9726338G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1034G>A	3.37:g.9726338G>A	ENSP00000296003:p.Arg345His					MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H|MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H	p.R345H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			11	1156	+	Medulloblastoma(99;0.227)		345					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.1034G>A	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139862	0.94560	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.72	5.72	0.89469	.	0.046924	0.85682	D	0.000000	D	0.95900	0.8665	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;1.0;1.0	D	0.95919	0.8929	10	0.87932	D	0	-2.6883	19.8766	0.96875	0.0:0.0:1.0:0.0	.	99;345;345;345	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	H	345;99;345;345;345;117	ENSP00000323462:R345H;ENSP00000401993:R99H;ENSP00000296003:R345H;ENSP00000334070:R345H;ENSP00000388746:R117H	ENSP00000296003:R345H	R	+	2	0	MTMR14	9701338	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.114000	0.94329	2.698000	0.92095	0.561000	0.74099	CGC		0.587	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		78	350	0	0	0	1	0	78	350				
NSFL1C	55968	broad.mit.edu	37	20	1433256	1433256	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1433256G>A	ENST00000216879.4	-	7	1534	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	223	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTAGCCTCCGAAGCTCTGCT	0.537																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(667-669)Cgg>Tgg		NSFL1 (p97) cofactor (p47)							146.0	137.0	140.0					20																	1433256		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433256G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.667C>T	20.37:g.1433256G>A	ENSP00000216879:p.Arg223Trp					NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W	p.R223W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			7	1534	-			223			SEP.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.667C>T	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206609	0.58343	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.46063	0.91;0.89;0.9;0.88;0.89	5.13	5.13	0.70059	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	L	0.45352	1.415	0.80722	D	1	D;B;P	0.89917	1.0;0.252;0.459	D;B;B	0.83275	0.996;0.031;0.094	T	0.58399	-0.7643	10	0.66056	D	0.02	-9.271	17.2951	0.87168	0.0:0.0:1.0:0.0	.	192;112;223	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	W	192;225;223;112;225	ENSP00000338643:R192W;ENSP00000418529:R225W;ENSP00000216879:R223W;ENSP00000371074:R112W;ENSP00000202584:R225W	ENSP00000216879:R223W	R	-	1	2	NSFL1C	1381256	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.655000	0.54460	2.824000	0.97209	0.655000	0.94253	CGG		0.537	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		156	666	0	0	0	1	0	156	666				
VGLL3	389136	broad.mit.edu	37	3	87027680	87027680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87027680C>T	ENST00000398399.2	-	2	762	c.399G>A	c.(397-399)tgG>tgA	p.W133*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCTTACCTCGCCATAGGGGGG	0.507																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(397-399)tgG>tgA		vestigial like 3 (Drosophila)							105.0	100.0	102.0					3																	87027680		1884	4118	6002	SO:0001587	stop_gained	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027680C>T	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.399G>A	3.37:g.87027680C>T	ENSP00000381436:p.Trp133*					VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	p.W133*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	762	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	133						Nonsense_Mutation	SNP	ENST00000398399.2	37	c.399G>A	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.252520|4.252520	0.80135|0.80135	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.52306|.	0.1726|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43393|.	-0.9394|.	3|.	.|0.07175	.|T	.|0.84	-3.2935|-3.2935	18.901|18.901	0.92443|0.92443	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	67|133	.|.	.|ENSP00000373199:W133X	A|W	-|-	1|3	0|0	VGLL3|VGLL3	87110370|87110370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	5.766000|5.766000	0.68843|0.68843	2.463000|2.463000	0.83235|0.83235	0.561000|0.561000	0.74099|0.74099	GCG|TGG		0.507	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		73	430	0	0	0	1	0	73	430				
PRPF38B	55119	broad.mit.edu	37	1	109241798	109241798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241798C>A	ENST00000370025.4	+	6	1066	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	PRPF38B_ENST00000370021.1_Missense_Mutation_p.S155Y	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	266	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CCAAGGAGATCTCTGAGTCCA	0.408																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(463-465)tCt>tAt		pre-mRNA processing factor 38B							56.0	61.0	59.0					1																	109241798		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241798C>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.797C>A	1.37:g.109241798C>A	ENSP00000359042:p.Ser266Tyr					PRPF38B_ENST00000370025.4_Missense_Mutation_p.S266Y	p.S155Y			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1101	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	266					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.464C>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552818	0.65425	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.14516	4.11;2.5	5.39	5.39	0.77823	.	0.122294	0.56097	D	0.000029	T	0.15696	0.0378	L	0.29908	0.895	0.58432	D	0.999999	D	0.61697	0.99	P	0.56398	0.797	T	0.01472	-1.1346	10	0.66056	D	0.02	.	19.5074	0.95125	0.0:1.0:0.0:0.0	.	266	Q5VTL8	PR38B_HUMAN	Y	266;155	ENSP00000359042:S266Y;ENSP00000359038:S155Y	ENSP00000359038:S155Y	S	+	2	0	PRPF38B	109043321	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.283000	0.65621	2.698000	0.92095	0.591000	0.81541	TCT		0.408	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		16	388	1	0	5.01169e-05	1	5.1097e-05	16	388				
CHERP	10523	broad.mit.edu	37	19	16641582	16641582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16641582G>A	ENST00000198939.6	-	6	853	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.R262W					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCACGCACCCGGGCGATCTTC	0.697																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(784-786)Cgg>Tgg		calcium homeostasis endoplasmic reticulum protein							35.0	42.0	40.0					19																	16641582		1923	4121	6044	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16641582G>A	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.817C>T	19.37:g.16641582G>A	ENSP00000198939:p.Arg273Trp					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R273W	p.R262W	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			6	935	-			262			CID.			Missense_Mutation	SNP	ENST00000198939.6	37	c.784C>T		.	.	.	.	.	.	.	.	.	.	G	19.11	3.763163	0.69763	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.50277	0.75;0.75	5.07	4.0	0.46444	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	.	.	.	.	T	0.55130	0.1901	L	0.29908	0.895	0.51233	D	0.999911	D	0.89917	1.0	D	0.78314	0.991	T	0.58601	-0.7608	9	0.87932	D	0	-35.1449	12.3355	0.55065	0.0:0.0:0.6762:0.3238	.	262	Q8IWX8	CHERP_HUMAN	W	262;273	ENSP00000439856:R262W;ENSP00000198939:R273W	ENSP00000198939:R273W	R	-	1	2	CHERP	16502582	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.209000	0.42806	1.104000	0.41587	0.462000	0.41574	CGG		0.697	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		78	344	0	0	0	1	0	78	344				
HK3	3101	broad.mit.edu	37	5	176317669	176317669	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176317669G>A	ENST00000292432.5	-	6	688	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	199	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCAGCTGGACCACATCCT	0.607																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(595-597)gtC>gtT		hexokinase 3 (white cell)							220.0	210.0	214.0					5																	176317669		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317669G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.597C>T	5.37:g.176317669G>A							p.V199V	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	688	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	199			Regulatory.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.597C>T	CCDS4407.1																																																																																				0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			230	1419	0	0	0	1	0	230	1419				
SCP2	6342	broad.mit.edu	37	1	53443951	53443951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53443951G>A	ENST00000528311.1	+	8	790	c.494G>A	c.(493-495)gGc>gAc	p.G165D	SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.G202D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D|SCP2_ENST00000371514.3_Missense_Mutation_p.G246D|SCP2_ENST00000371513.5_Missense_Mutation_p.G202D	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	292					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAGAAGTATGGCCTGCAATCC	0.408																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(736-738)gGc>gAc		sterol carrier protein 2							97.0	94.0	95.0					1																	53443951		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53443951G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.494G>A	1.37:g.53443951G>A	ENSP00000434132:p.Gly165Asp					SCP2_ENST00000371509.4_Missense_Mutation_p.G202D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D|SCP2_ENST00000528311.1_Missense_Mutation_p.G165D|SCP2_ENST00000371513.5_Missense_Mutation_p.G202D|SCP2_ENST00000473584.1_3'UTR	p.G246D	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			9	905	+			246					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.737G>A	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.627|5.627	0.300414|0.300414	0.10678|0.10678	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000529363|ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	.|D;T;D;D;D	.|0.95885	.|-3.84;-0.6;-3.84;-3.84;-3.84	5.17|5.17	-1.38|-1.38	0.09027|0.09027	.|Thiolase-like (1);	.|0.789478	.|0.12497	.|N	.|0.463694	D|D	0.94072|0.94072	0.8100|0.8100	M|M	0.79693|0.79693	2.465|2.465	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.31174	.|0.311;0.027;0.059;0.021	.|B;B;B;B	.|0.31442	.|0.13;0.009;0.033;0.02	D|D	0.87879|0.87879	0.2676|0.2676	5|10	.|0.52906	.|T	.|0.07	0.0831|0.0831	11.4404|11.4404	0.50094|0.50094	0.5016:0.0:0.4984:0.0|0.5016:0.0:0.4984:0.0	.|.	.|222;202;246;202	.|C9JC79;A6NM69;P22307;Q6NXF4	.|.;.;NLTP_HUMAN;.	T|D	192|246;165;202;222;202	.|ENSP00000360569:G246D;ENSP00000434132:G165D;ENSP00000360564:G202D;ENSP00000384569:G222D;ENSP00000360568:G202D	.|ENSP00000360564:G202D	A|G	+|+	1|2	0|0	SCP2|SCP2	53216539|53216539	0.007000|0.007000	0.16637|0.16637	0.004000|0.004000	0.12327|0.12327	0.059000|0.059000	0.15707|0.15707	0.695000|0.695000	0.25527|0.25527	-0.111000|-0.111000	0.12001|0.12001	-0.781000|-0.781000	0.03364|0.03364	GCC|GGC		0.408	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		20	201	0	0	0	1	0	20	201				
KRCC1	51315	broad.mit.edu	37	2	88328060	88328060	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328060T>C	ENST00000347055.3	-	4	416	c.23A>G	c.(22-24)tAt>tGt	p.Y8C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	8										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAAGAGTCATATGTCTTCTT	0.363																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(22-24)tAt>tGt		lysine-rich coiled-coil 1							33.0	35.0	34.0					2																	88328060		2201	4298	6499	SO:0001583	missense	51315							g.chr2:88328060T>C	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.23A>G	2.37:g.88328060T>C	ENSP00000340083:p.Tyr8Cys						p.Y8C	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	416	-			8					Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.23A>G	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	15.72	2.915994	0.52546	.	.	ENSG00000172086	ENST00000347055	T	0.38560	1.13	5.99	1.73	0.24493	.	0.366091	0.24720	N	0.036157	T	0.57110	0.2031	M	0.75777	2.31	0.44995	D	0.998013	D	0.89917	1.0	D	0.66497	0.944	T	0.57283	-0.7838	10	0.72032	D	0.01	.	8.1035	0.30872	0.1264:0.0:0.2328:0.6408	.	8	Q9NPI7	KRCC1_HUMAN	C	8	ENSP00000340083:Y8C	ENSP00000340083:Y8C	Y	-	2	0	KRCC1	88109175	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.751000	0.38339	0.477000	0.27464	0.533000	0.62120	TAT		0.363	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		54	217	0	0	0	1	0	54	217				
CCT8	10694	broad.mit.edu	37	21	30433572	30433572	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30433572A>G	ENST00000286788.4	-	13	1656		c.e13+1		CCT8_ENST00000542732.1_Splice_Site|AF129075.5_ENST00000457162.2_RNA|CCT8_ENST00000470450.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TTTTTCAAATACCTCAATATC	0.323																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.e13+1		chaperonin containing TCP1, subunit 8 (theta)							78.0	80.0	79.0					21																	30433572		2203	4300	6503	SO:0001630	splice_region_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30433572A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1449+1T>C	21.37:g.30433572A>G						CCT8_ENST00000470450.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site|CCT8_ENST00000542732.1_Splice_Site		NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			13	1656	-								A6NN54|B4DEM7|B4DQH4|Q4VBP8	Splice_Site	SNP	ENST00000286788.4	37		CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026103	0.75390	.	.	ENSG00000156261	ENST00000432178;ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5098	0.75772	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCT8	29355443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.655000	0.91098	2.304000	0.77564	0.528000	0.53228	.		0.323	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1		Intron	28	257	0	0	0	1	0	28	257				
CENPF	1063	broad.mit.edu	37	1	214819626	214819626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214819626G>A	ENST00000366955.3	+	13	6881	c.6713G>A	c.(6712-6714)aGt>aAt	p.S2238N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2334	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATTTAAAAGTCTGTTAGAA	0.358																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(6712-6714)aGt>aAt		centromere protein F, 350/400kDa							61.0	69.0	66.0					1																	214819626		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819626G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6713G>A	1.37:g.214819626G>A	ENSP00000355922:p.Ser2238Asn						p.S2238N	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6881	+			2334			2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6713G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	2.636	-0.285247	0.05605	.	.	ENSG00000117724	ENST00000366955	T	0.38240	1.15	4.69	0.0956	0.14486	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.977676	0.08333	N	0.962002	T	0.11024	0.0269	N	0.01091	-1.02	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.33007	-0.9885	10	0.13108	T	0.6	.	5.9842	0.19423	0.3633:0.1349:0.5019:0.0	.	2334	P49454	CENPF_HUMAN	N	2238	ENSP00000355922:S2238N	ENSP00000355922:S2238N	S	+	2	0	CENPF	212886249	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.053000	0.14184	-0.155000	0.11098	-0.414000	0.06135	AGT		0.358	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		69	374	0	0	0	1	0	69	374				
SOCS4	122809	broad.mit.edu	37	14	55511079	55511079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55511079C>A	ENST00000395472.2	+	2	1652	c.1320C>A	c.(1318-1320)tgC>tgA	p.C440*	SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*|SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	440					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACAGCAATGCTAGTAACAGG	0.308																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(1318-1320)tgC>tgA		suppressor of cytokine signaling 4							24.0	23.0	23.0					14																	55511079		2174	4284	6458	SO:0001587	stop_gained	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55511079C>A	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1320C>A	14.37:g.55511079C>A	ENSP00000378855:p.Cys440*					SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*	p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1652	+			440						Nonsense_Mutation	SNP	ENST00000395472.2	37	c.1320C>A	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594096	0.66219	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	4.96	0.996	0.19844	.	0.537537	0.16649	N	0.205289	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5584	0.22474	0.1332:0.6474:0.0:0.2194	.	.	.	.	X	440	.	ENSP00000341327:C440X	C	+	3	2	SOCS4	54580832	0.786000	0.28738	0.653000	0.29593	0.553000	0.35397	0.658000	0.24979	0.326000	0.23384	0.655000	0.94253	TGC		0.308	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			36	117	1	0	6.90743e-12	1	7.39364e-12	36	117				
AHNAK	79026	broad.mit.edu	37	11	62286943	62286943	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62286943A>G	ENST00000378024.4	-	5	15220	c.14946T>C	c.(14944-14946)ttT>ttC	p.F4982F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4982					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTTGCCCCAAATCCAAACT	0.448																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14944-14946)ttT>ttC		AHNAK nucleoprotein							79.0	85.0	83.0					11																	62286943		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62286943A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14946T>C	11.37:g.62286943A>G						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F4982F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15220	-		Melanoma(852;0.155)	4982					A1A586	Silent	SNP	ENST00000378024.4	37	c.14946T>C	CCDS31584.1																																																																																				0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		107	490	0	0	0	1	0	107	490				
USP30	84749	broad.mit.edu	37	12	109523652	109523652	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109523652G>A	ENST00000257548.5	+	13	1563	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1468-1470)ctG>ctA		ubiquitin specific peptidase 30							92.0	74.0	80.0					12																	109523652		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109523652G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1470G>A	12.37:g.109523652G>A						USP30_ENST00000392784.2_Silent_p.L459L	p.L490L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			13	1563	+			490					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1470G>A	CCDS9123.2																																																																																				0.597	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		25	293	0	0	0	1	0	25	293				
CLIP1	6249	broad.mit.edu	37	12	122826040	122826040	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122826040T>G	ENST00000540338.1	-	10	1752	c.1711A>C	c.(1711-1713)Act>Cct	p.T571P	CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000358808.2_Missense_Mutation_p.T560P|CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P|CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	571					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCAGAGAAGTTATTTCTCTC	0.468																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1678-1680)Act>Cct		CAP-GLY domain containing linker protein 1							177.0	193.0	188.0					12																	122826040		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122826040T>G		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1711A>C	12.37:g.122826040T>G	ENSP00000439093:p.Thr571Pro					CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P|CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000540338.1_Missense_Mutation_p.T571P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P	p.T560P	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1832	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		571					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1678A>C	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263802	0.23136	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61859	2.7;0.66;0.66;0.68;0.68;0.07	5.25	-1.35	0.09114	.	0.997403	0.08131	N	0.993246	T	0.47563	0.1452	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.21905	0.062;0.039;0.039;0.023	B;B;B;B	0.29598	0.059;0.104;0.104;0.048	T	0.42982	-0.9419	10	0.31617	T	0.26	0.3462	10.5726	0.45209	0.0:0.4574:0.0:0.5426	.	261;525;560;571	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	P	261;560;560;405;525;571;494	ENSP00000438743:T261P;ENSP00000303585:T560P;ENSP00000351665:T560P;ENSP00000445531:T525P;ENSP00000439093:T571P;ENSP00000437786:T494P	ENSP00000303585:T560P	T	-	1	0	CLIP1	121391993	0.000000	0.05858	0.118000	0.21660	0.909000	0.53808	-0.323000	0.07997	-0.413000	0.07507	-0.379000	0.06801	ACT		0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		321	1297	0	0	0	1	0	321	1297				
NCAPD3	23310	broad.mit.edu	37	11	134073691	134073691	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134073691C>T	ENST00000534548.2	-	11	1390	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	442					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCACCAGGAACTTATGCTTTA	0.468																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1324-1326)aaG>aaA		non-SMC condensin II complex, subunit D3							85.0	87.0	87.0					11																	134073691		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134073691C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1326G>A	11.37:g.134073691C>T							p.K442K	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	11	1390	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	442					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.1326G>A	CCDS31723.1																																																																																				0.468	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		89	362	0	0	0	1	0	89	362				
SLC3A1	6519	broad.mit.edu	37	2	44547732	44547732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44547732G>A	ENST00000260649.6	+	10	2088	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	671					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTTTCCAATCGAGCATGCTAT	0.418																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(2011-2013)cGa>cAa		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						87.0	73.0	78.0					2																	44547732		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547732G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.2012G>A	2.37:g.44547732G>A	ENSP00000260649:p.Arg671Gln					PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q	p.R671Q	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			10	2088	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	671					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.2012G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347062	0.82022	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99129	-5.46;-4.86;-4.55	5.99	0.529	0.17095	.	0.164236	0.52532	N	0.000062	D	0.96772	0.8946	M	0.68317	2.08	0.58432	D	0.999999	P	0.50066	0.931	B	0.36378	0.223	D	0.93093	0.6501	10	0.66056	D	0.02	-4.4218	8.1944	0.31387	0.6839:0.0:0.3161:0.0	.	671	Q07837	SLC31_HUMAN	Q	671;607;393;302	ENSP00000260649:R671Q;ENSP00000386709:R393Q;ENSP00000386677:R302Q	ENSP00000260649:R671Q	R	+	2	0	SLC3A1	44401236	1.000000	0.71417	0.010000	0.14722	0.823000	0.46562	3.321000	0.51999	0.146000	0.19002	-0.768000	0.03414	CGA		0.418	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		41	271	0	0	0	1	0	41	271				
UBXN6	80700	broad.mit.edu	37	19	4457633	4457633	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4457633T>C	ENST00000301281.6	-	1	186	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	CTB-50L17.16_ENST00000591414.1_lincRNA|UBXN6_ENST00000394765.3_5'Flank|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	21						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGAGCTTCTGACCGGGTCC	0.692																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(61-63)cAg>cGg		UBX domain protein 6							35.0	31.0	33.0					19																	4457633		2201	4297	6498	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4457633T>C	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.62A>G	19.37:g.4457633T>C	ENSP00000301281:p.Gln21Arg						p.Q21R	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			1	186	-			21					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.62A>G	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	T	8.264	0.811888	0.16537	.	.	ENSG00000167671	ENST00000301281	T	0.42900	0.96	4.03	4.03	0.46877	.	0.410430	0.26612	U	0.023407	T	0.26159	0.0638	L	0.33137	0.985	0.80722	D	1	B	0.24823	0.112	B	0.25140	0.058	T	0.04333	-1.0959	10	0.07482	T	0.82	-14.4097	7.6137	0.28145	0.1898:0.0:0.0:0.8102	.	21	Q9BZV1	UBXN6_HUMAN	R	21	ENSP00000301281:Q21R	ENSP00000301281:Q21R	Q	-	2	0	UBXN6	4408633	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	5.039000	0.64185	1.448000	0.47680	0.477000	0.44152	CAG		0.692	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		15	126	0	0	0	1	0	15	126				
PDYN	5173	broad.mit.edu	37	20	1961097	1961097	+	Missense_Mutation	SNP	G	G	A	rs150455107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961097G>A	ENST00000217305.2	-	4	862	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	213					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R213C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACGAATGCGCCGCAAGAAG	0.597																																						ENST00000217305.2																			1	Substitution - Missense(1)	p.R213C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(637-639)Cgc>Tgc		prodynorphin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	101.0	112.0	108.0		637,637,637,637,637	4.0	1.0	20	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	213/255,213/255,213/255,213/255,213/255	1961097	1,13005	2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961097G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.637C>T	20.37:g.1961097G>A	ENSP00000217305:p.Arg213Cys					PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C	p.R213C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	862	-			213					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.637C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055632	0.75960	0.0	1.16E-4	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.83591	-1.74;-1.74;-1.74	5.0	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90666	0.4594	10	0.52906	T	0.07	-19.9746	9.944	0.41598	0.0:0.0:0.7025:0.2975	.	213	P01213	PDYN_HUMAN	C	213	ENSP00000440185:R213C;ENSP00000442259:R213C;ENSP00000217305:R213C	ENSP00000217305:R213C	R	-	1	0	PDYN	1909097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.681000	0.37618	2.603000	0.88011	0.313000	0.20887	CGC		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			137	578	0	0	0	1	0	137	578				
ASH1L	55870	broad.mit.edu	37	1	155313152	155313152	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155313152G>T	ENST00000368346.3	-	24	8900	c.8261C>A	c.(8260-8262)gCt>gAt	p.A2754D	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2754	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCCCACTACAGCCTCCAAGGG	0.478																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8260-8262)gCt>gAt		ash1 (absent, small, or homeotic)-like (Drosophila)							108.0	105.0	106.0					1																	155313152		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155313152G>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8261C>A	1.37:g.155313152G>T	ENSP00000357330:p.Ala2754Asp					ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D	p.A2754D			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		24	8900	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2754			BAH.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8261C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.176866	0.94846	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.86164	-2.08;-2.08	5.3	5.3	0.74995	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89183	0.3545	10	0.56958	D	0.05	.	18.7281	0.91722	0.0:0.0:1.0:0.0	.	2754;2749	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	D	2754;2749	ENSP00000357330:A2754D;ENSP00000376204:A2749D	ENSP00000357330:A2754D	A	-	2	0	ASH1L	153579776	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.623000	0.98386	2.757000	0.94681	0.561000	0.74099	GCT		0.478	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		66	373	1	0	7.59065e-32	1	8.94676e-32	66	373				
RAB6C	84084	broad.mit.edu	37	2	130738170	130738170	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130738170A>G	ENST00000410061.2	+	1	936	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	161	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AAAGCTGGATACAATGTAAAG	0.468																																						ENST00000410061.2																			0				large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5						c.(481-483)tAc>tGc		RAB6C, member RAS oncogene family							97.0	83.0	88.0					2																	130738170		2203	4297	6500	SO:0001583	missense	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738170A>G	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.482A>G	2.37:g.130738170A>G	ENSP00000387307:p.Tyr161Cys						p.Y161C	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN			1	936	+	Colorectal(110;0.1)		161					Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	ENST00000410061.2	37	c.482A>G	CCDS46408.1	.	.	.	.	.	.	.	.	.	.	.	9.317	1.057016	0.19907	.	.	ENSG00000222014	ENST00000410061	T	0.80123	-1.34	0.652	0.652	0.17823	Small GTP-binding protein domain (1);	.	.	.	.	T	0.70159	0.3192	L	0.44542	1.39	0.44508	D	0.997451	B	0.26081	0.141	B	0.27796	0.083	T	0.65792	-0.6082	9	0.72032	D	0.01	-2.6348	5.6347	0.17530	0.9999:0.0:1.0E-4:0.0	.	161	Q9H0N0	RAB6C_HUMAN	C	161	ENSP00000387307:Y161C	ENSP00000387307:Y161C	Y	+	2	0	RAB6C	130454640	1.000000	0.71417	0.011000	0.14972	0.338000	0.28826	3.269000	0.51592	0.537000	0.28751	0.102000	0.15555	TAC		0.468	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		41	376	0	0	0	1	0	41	376				
BDH1	622	broad.mit.edu	37	3	197241204	197241204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197241204C>T	ENST00000392378.2	-	6	803	c.493G>A	c.(493-495)Gca>Aca	p.A165T	BDH1_ENST00000392379.1_Missense_Mutation_p.A165T|BDH1_ENST00000441275.1_Missense_Mutation_p.A78T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	165					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TTCACTTCTGCCACCTGCTTG	0.592																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(493-495)Gca>Aca		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						155.0	122.0	133.0					3																	197241204		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197241204C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.493G>A	3.37:g.197241204C>T	ENSP00000376183:p.Ala165Thr					BDH1_ENST00000392378.2_Missense_Mutation_p.A165T|BDH1_ENST00000441275.1_Missense_Mutation_p.A78T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T	p.A165T	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	894	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	165					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.493G>A	CCDS3328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.541301|4.541301	0.85917|0.85917	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819|ENST00000455876	D;D;D;D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26|.	5.02|5.02	5.02|5.02	0.67125|0.67125	NAD(P)-binding domain (1);|.	0.055371|.	0.64402|.	D|.	0.000001|.	T|.	0.52837|.	0.1759|.	N|N	0.20986|0.20986	0.625|0.625	0.53688|0.53688	D|D	0.999971|0.999971	P|.	0.46859|.	0.885|.	P|.	0.51297|.	0.665|.	T|.	0.48043|.	-0.9069|.	10|.	0.26408|.	T|.	0.33|.	.|.	16.2301|16.2301	0.82332|0.82332	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165|.	Q02338|.	BDH_HUMAN|.	T|X	165;165;165;78;78;146;165|21	ENSP00000376183:A165T;ENSP00000350914:A165T;ENSP00000376184:A165T;ENSP00000411014:A78T;ENSP00000387648:A78T;ENSP00000408685:A146T;ENSP00000409849:A165T|.	ENSP00000350914:A165T|.	A|W	-|-	1|3	0|0	BDH1|BDH1	198725601|198725601	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	6.096000|6.096000	0.71446|0.71446	2.509000|2.509000	0.84616|0.84616	0.555000|0.555000	0.69702|0.69702	GCA|TGG		0.592	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		36	335	0	0	0	1	0	36	335				
SLC17A9	63910	broad.mit.edu	37	20	61598818	61598818	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61598818G>T	ENST00000370351.4	+	13	1408	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.R420M	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	426					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGCTCAGAGGGTGGACCTG	0.612																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(1258-1260)aGg>aTg		solute carrier family 17 (vesicular nucleotide transporter), member 9							141.0	151.0	148.0					20																	61598818		2075	4199	6274	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61598818G>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1277G>T	20.37:g.61598818G>T	ENSP00000359376:p.Arg426Met					SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R426M	p.R420M			Q9BYT1	S17A9_HUMAN			14	1463	+			426					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.1259G>T	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904909	0.72868	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.62941	-0.01;-0.01	4.9	3.95	0.45737	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.81571	-0.0872	10	0.62326	D	0.03	.	13.016	0.58757	0.0785:0.0:0.9215:0.0	.	426;420	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	426;420	ENSP00000359376:R426M;ENSP00000359374:R420M	ENSP00000359374:R420M	R	+	2	0	SLC17A9	61069263	1.000000	0.71417	0.592000	0.28758	0.922000	0.55478	8.223000	0.89779	1.053000	0.40415	0.561000	0.74099	AGG		0.612	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		63	593	1	0	1.53716e-24	1	1.75837e-24	63	593				
NTMT1	28989	broad.mit.edu	37	9	132397705	132397705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132397705G>A	ENST00000372486.1	+	4	983	c.634G>A	c.(634-636)Gat>Aat	p.D212N	NTMT1_ENST00000372483.4_Missense_Mutation_p.D212N|NTMT1_ENST00000482347.1_Missense_Mutation_p.D124N|NTMT1_ENST00000372480.1_Missense_Mutation_p.D212N|NTMT1_ENST00000372481.3_3'UTR			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	212					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GAACCTCCCCGATGAGATCTA	0.632																																						ENST00000372486.1																			0											c.(634-636)Gat>Aat		N-terminal Xaa-Pro-Lys N-methyltransferase 1							83.0	82.0	82.0					9																	132397705		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132397705G>A	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.634G>A	9.37:g.132397705G>A	ENSP00000361564:p.Asp212Asn					NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000482347.1_Missense_Mutation_p.D124N|NTMT1_ENST00000372480.1_Missense_Mutation_p.D212N|NTMT1_ENST00000372483.4_Missense_Mutation_p.D212N	p.D212N							4	983	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.634G>A	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624656	0.28889	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480	T;T;T	0.22336	1.96;1.96;1.96	5.01	5.01	0.66863	.	0.314836	0.33732	N	0.004606	T	0.19127	0.0459	L	0.40543	1.245	0.42916	D	0.994274	B	0.28783	0.222	B	0.14023	0.01	T	0.02797	-1.1109	10	0.46703	T	0.11	-25.7524	16.8907	0.86086	0.0:0.0:1.0:0.0	.	212	Q9BV86	NTM1A_HUMAN	N	212	ENSP00000361564:D212N;ENSP00000361561:D212N;ENSP00000361558:D212N	ENSP00000361558:D212N	D	+	1	0	METTL11A	131437526	1.000000	0.71417	0.053000	0.19242	0.166000	0.22503	4.104000	0.57790	2.325000	0.78763	0.549000	0.68633	GAT		0.632	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		138	618	0	0	0	1	0	138	618				
GPR116	221395	broad.mit.edu	37	6	46827246	46827246	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46827246C>T	ENST00000283296.7	-	17	2682	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	GPR116_ENST00000265417.7_Silent_p.T798T|GPR116_ENST00000545669.1_Silent_p.T227T|GPR116_ENST00000362015.4_Silent_p.T798T|GPR116_ENST00000456426.2_Silent_p.T656T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	798					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGACATTAACCGTAGAGAGCA	0.393																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2392-2394)acG>acA		G protein-coupled receptor 116							34.0	34.0	34.0					6																	46827246		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46827246C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2394G>A	6.37:g.46827246C>T						GPR116_ENST00000362015.4_Silent_p.T798T|GPR116_ENST00000456426.2_Silent_p.T656T|GPR116_ENST00000545669.1_Silent_p.T227T|GPR116_ENST00000265417.7_Silent_p.T798T	p.T798T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	2682	-			798					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2394G>A	CCDS4919.1																																																																																				0.393	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		36	167	0	0	0	1	0	36	167				
EVC2	132884	broad.mit.edu	37	4	5564829	5564829	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5564829T>C	ENST00000344408.5	-	22	3726	c.3673A>G	c.(3673-3675)Aca>Gca	p.T1225A	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.T1145A	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1225					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGAGACATGTCTTCTTTAAT	0.443																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3433-3435)Aca>Gca		Ellis van Creveld syndrome 2							99.0	104.0	102.0					4																	5564829		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564829T>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3673A>G	4.37:g.5564829T>C	ENSP00000342144:p.Thr1225Ala					EVC2_ENST00000344408.5_Missense_Mutation_p.T1225A|EVC2_ENST00000344938.1_Intron	p.T1145A	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4164	-			1225					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3433A>G	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.328128	0.01309	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74106	-0.81;-0.81	5.32	-4.61	0.03380	.	0.635267	0.15377	N	0.265509	T	0.48150	0.1484	L	0.27053	0.805	0.24101	N	0.995872	B	0.15473	0.013	B	0.10450	0.005	T	0.36529	-0.9744	10	0.14252	T	0.57	-1.3604	2.4096	0.04421	0.1119:0.1471:0.3375:0.4035	.	1225	Q86UK5	LBN_HUMAN	A	1145;1225	ENSP00000311683:T1145A;ENSP00000342144:T1225A	ENSP00000311683:T1145A	T	-	1	0	EVC2	5615730	0.005000	0.15991	0.008000	0.14137	0.272000	0.26649	-0.562000	0.05950	-1.038000	0.03279	-1.966000	0.00469	ACA		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		153	526	0	0	0	1	0	153	526				
LCN15	389812	broad.mit.edu	37	9	139651524	139651524	+	IGR	SNP	C	C	T	rs370566056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139651524C>T	ENST00000316144.5	-	0	762				LCN8_ENST00000482893.1_5'UTR|LCN8_ENST00000371688.3_Missense_Mutation_p.G41R|LCN15_ENST00000482511.1_5'Flank	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						AGGTTACTCCCGCTCAAGGTG	0.607																																						ENST00000371688.3																			0				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10						c.(121-123)Ggg>Agg		lipocalin 8		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	56.0	48.0	50.0		121	1.6	0.0	9		50	0,8600		0,0,4300	no	missense	LCN8	NM_178469.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	41/153	139651524	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	138307				transport	extracellular region	binding	g.chr9:139651524C>T		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651524C>T						LCN8_ENST00000482893.1_5'UTR	p.G41R	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	2	416	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	64						Missense_Mutation	SNP	ENST00000316144.5	37	c.121G>A	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	C	8.375	0.836230	0.16891	2.27E-4	0.0	ENSG00000204001	ENST00000371688	T	0.11930	2.73	3.47	1.57	0.23409	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.07098	0.0180	L	0.33485	1.01	0.09310	N	1	P;B	0.43701	0.815;0.098	B;B	0.30105	0.111;0.023	T	0.30268	-0.9984	8	.	.	.	.	4.9508	0.14013	0.0:0.6622:0.2164:0.1214	.	64;41	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	R	41	ENSP00000360753:G41R	.	G	-	1	0	LCN8	138771345	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.145000	0.16157	0.453000	0.26858	-0.254000	0.11334	GGG		0.607	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		30	97	0	0	0	1	0	30	97				
LPHN2	23266	broad.mit.edu	37	1	82435043	82435043	+	Missense_Mutation	SNP	T	T	C	rs150031756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82435043T>C	ENST00000370728.1	+	17	3338	c.2693T>C	c.(2692-2694)cTa>cCa	p.L898P	LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P			O95490	LPHN2_HUMAN	latrophilin 2	898					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.L898P(1)|p.L885P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTATTTTCCTAATAGGCATT	0.368																																						ENST00000370728.1																			2	Substitution - Missense(2)	p.L898P(1)|p.L885P(1)	kidney(2)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2692-2694)cTa>cCa		latrophilin 2		T	PRO/LEU	0,4406		0,0,2203	129.0	126.0	127.0		2654	5.1	1.0	1	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPHN2	NM_012302.2	98	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	885/1404	82435043	1,13005	2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82435043T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2693T>C	1.37:g.82435043T>C	ENSP00000359763:p.Leu898Pro					LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P	p.L898P			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	17	3338	+			898					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2693T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328568|4.328568	0.81690|0.81690	0.0|0.0	1.16E-4|1.16E-4	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.60672|.	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|.	0.86585|.	0.5968|.	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.994;0.998|.	D|.	0.91704|.	0.5376|.	10|.	0.87932|.	D|.	0|.	.|.	14.8239|14.8239	0.70094|0.70094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	885;885;885|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	P|Q	823;898;898;898;898;885;885;885;885;885;898;885;898;898|766	ENSP00000359756:L823P;ENSP00000359763:L898P;ENSP00000359765:L898P;ENSP00000359762:L898P;ENSP00000359760:L898P;ENSP00000359758:L885P;ENSP00000353006:L885P;ENSP00000359750:L885P;ENSP00000359748:L885P;ENSP00000322270:L885P;ENSP00000359752:L898P;ENSP00000378344:L885P;ENSP00000271029:L898P;ENSP00000337306:L898P|.	ENSP00000271029:L898P|.	L|X	+|+	2|1	0|0	LPHN2|LPHN2	82207631|82207631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	1.904000|1.904000	0.55121|0.55121	0.477000|0.477000	0.44152|0.44152	CTA|TAA		0.368	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		45	395	0	0	0	1	0	45	395				
MAGI2	9863	broad.mit.edu	37	7	77649134	77649134	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77649134T>G	ENST00000354212.4	-	22	4119	c.3866A>C	c.(3865-3867)aAa>aCa	p.K1289T	MAGI2_ENST00000522391.1_3'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1289					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGTTCCCGTTTGATATCCCA	0.622																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3865-3867)aAa>aCa		membrane associated guanylate kinase, WW and PDZ domain containing 2							83.0	98.0	92.0					7																	77649134		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77649134T>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3866A>C	7.37:g.77649134T>G	ENSP00000346151:p.Lys1289Thr					MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T|MAGI2_ENST00000522391.1_3'UTR	p.K1289T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			22	4119	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1289					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3866A>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	t	12.52	1.964108	0.34659	.	.	ENSG00000187391	ENST00000419488;ENST00000354212	T;T	0.10668	2.85;2.85	4.59	3.45	0.39498	.	.	.	.	.	T	0.05960	0.0155	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.007	T	0.31420	-0.9944	9	0.15499	T	0.54	.	9.518	0.39117	0.0:0.0843:0.0:0.9157	.	1275;1289	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	1275;1289	ENSP00000405766:K1275T;ENSP00000346151:K1289T	ENSP00000346151:K1289T	K	-	2	0	MAGI2	77487070	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.347000	0.65998	1.710000	0.51325	0.445000	0.29226	AAA		0.622	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		110	441	0	0	0	1	0	110	441				
CUL7	9820	broad.mit.edu	37	6	43016152	43016152	+	Missense_Mutation	SNP	G	G	A	rs199607543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43016152G>A	ENST00000265348.3	-	8	2066	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.R745W			Q14999	CUL7_HUMAN	cullin 7	661					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCGGCTGCCGCTGCAGCTGC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15628	0.0		0.0	False		,,,				2504	0.0					ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(2233-2235)Cgg>Tgg		cullin 7																																				SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43016152G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1981C>T	6.37:g.43016152G>A	ENSP00000265348:p.Arg661Trp					CUL7_ENST00000265348.3_Missense_Mutation_p.R661W	p.R745W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		8	2319	-			661					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.2233C>T	CCDS4881.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	16.85	3.236478	0.58886	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.66099	-0.19;-0.19	4.89	-0.649	0.11461	Armadillo-like helical (1);	3.182340	0.00481	N	0.000140	T	0.40347	0.1113	N	0.22421	0.69	0.39262	D	0.964222	D;D	0.61697	0.987;0.99	P;P	0.51701	0.555;0.677	T	0.18840	-1.0324	10	0.87932	D	0	-13.2376	4.3319	0.11067	0.079:0.1285:0.2622:0.5303	.	745;661	F5H0L1;Q14999	.;CUL7_HUMAN	W	661;745	ENSP00000265348:R661W;ENSP00000438788:R745W	ENSP00000265348:R661W	R	-	1	2	CUL7	43124130	0.001000	0.12720	0.739000	0.30968	0.872000	0.50106	-0.148000	0.10219	-0.379000	0.07906	0.655000	0.94253	CGG		0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		220	1002	0	0	0	1	0	220	1002				
FCRL5	83416	broad.mit.edu	37	1	157494130	157494130	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157494130G>T	ENST00000361835.3	-	10	2335	c.2178C>A	c.(2176-2178)tcC>tcA	p.S726S	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000356953.4_Silent_p.S726S|FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000368190.3_Silent_p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	726	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGCCTCACAGGAGTAGATTC	0.542																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2176-2178)tcC>tcA		Fc receptor-like 5							63.0	68.0	66.0					1																	157494130		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494130G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2178C>A	1.37:g.157494130G>T						FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000356953.4_Silent_p.S726S|FCRL5_ENST00000368190.3_Silent_p.S726S	p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			10	2335	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	726			Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2178C>A	CCDS1165.1																																																																																				0.542	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		138	340	1	0	2.44438e-75	1	3.11652e-75	138	340				
PIK3C2B	5287	broad.mit.edu	37	1	204409347	204409347	+	Missense_Mutation	SNP	G	G	A	rs200513505	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409347G>A	ENST00000367187.3	-	23	3908	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1118	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGAAGCAGCGGAAGATGACC	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		19486	0.0		0.004	False		,,,				2504	0.0					ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3352-3354)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							123.0	107.0	112.0					1																	204409347		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409347G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3352C>T	1.37:g.204409347G>A	ENSP00000356155:p.Arg1118Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	p.R1118C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3908	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1118			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3352C>T	CCDS1446.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	24.5	4.534673	0.85812	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.82344	-1.6;-1.6	6.06	5.13	0.70059	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.053074	0.64402	D	0.000001	D	0.87977	0.6314	M	0.84433	2.695	0.52099	D	0.999943	D;D	0.89917	1.0;0.999	D;P	0.67900	0.954;0.828	D	0.89881	0.4030	10	0.72032	D	0.01	.	11.8058	0.52155	0.0:0.1332:0.7284:0.1384	.	1090;1118	F5GWN5;O00750	.;P3C2B_HUMAN	C	1118;1090	ENSP00000356155:R1118C;ENSP00000400561:R1090C	ENSP00000356155:R1118C	R	-	1	0	PIK3C2B	202675970	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.842000	0.48230	1.534000	0.49203	0.650000	0.86243	CGC		0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		69	424	0	0	0	1	0	69	424				
ETS2	2114	broad.mit.edu	37	21	40191548	40191548	+	Silent	SNP	C	C	T	rs113417859	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191548C>T	ENST00000360214.3	+	9	1393	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ETS2_ENST00000360938.3_Silent_p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	311					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCTTCCTTCGAGAGCTTCG	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18559	0.0		0.0	False		,,,				2504	0.0					ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(931-933)ttC>ttT		v-ets avian erythroblastosis virus E26 oncogene homolog 2		C		0,4406		0,0,2203	90.0	76.0	81.0		933	-4.4	0.9	21	dbSNP_132	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ETS2	NM_005239.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		311/470	40191548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40191548C>T		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.933C>T	21.37:g.40191548C>T						ETS2_ENST00000360938.3_Silent_p.F311F	p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			9	1393	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	311					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.933C>T	CCDS13659.1																																																																																				0.552	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			14	143	0	0	0	1	0	14	143				
RPAP2	79871	broad.mit.edu	37	1	92846382	92846382	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92846382A>G	ENST00000610020.1	+	12	1899	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	597					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAATGAAGACCTTGAAAGT	0.368																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(1789-1791)gAc>gGc		RNA polymerase II associated protein 2							119.0	119.0	119.0					1																	92846382		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92846382A>G	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1790A>G	1.37:g.92846382A>G	ENSP00000476948:p.Asp597Gly						p.D597G	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	12	1899	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	597					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1790A>G	CCDS740.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928953	0.52759	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	5.74	0.90152	.	0.048575	0.85682	D	0.000000	T	0.57681	0.2070	L	0.32530	0.975	0.37678	D	0.923373	D	0.89917	1.0	D	0.87578	0.998	T	0.64984	-0.6278	8	0.56958	D	0.05	-7.6521	13.5778	0.61885	1.0:0.0:0.0:0.0	.	597	Q8IXW5	RPAP2_HUMAN	G	597	.	ENSP00000359368:D597G	D	+	2	0	RPAP2	92618970	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.137000	0.64789	2.191000	0.70037	0.528000	0.53228	GAC		0.368	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		37	351	0	0	0	1	0	37	351				
WDR64	128025	broad.mit.edu	37	1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A	rs185903348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959665G>A	ENST00000366552.2	+	26	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.0		0.001	False		,,,				2504	0.0					ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3154-3156)cGt>cAt		WD repeat domain 64							82.0	79.0	80.0					1																	241959665		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241959665G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3155G>A	1.37:g.241959665G>A	ENSP00000355510:p.Arg1052His					WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	p.R1052H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		26	3362	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	1052					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.3155G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.006|0.006	-2.099010|-2.099010	0.00360|0.00360	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.38240|.	1.37;1.15;1.15|.	4.1|4.1	0.168|0.168	0.15012|0.15012	.|.	0.511841|.	0.17962|.	N|.	0.156140|.	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.01267|0.01267	-0.92|-0.92	0.20764|0.20764	N|N	0.999859|0.999859	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.06099|.	T|.	0.92|.	-0.5393|-0.5393	1.1911|1.1911	0.01865|0.01865	0.5203:0.1903:0.1059:0.1835|0.5203:0.1903:0.1059:0.1835	.|.	1052;605|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	1052;885;656|531	ENSP00000355510:R1052H;ENSP00000402446:R885H;ENSP00000406656:R656H|.	ENSP00000355510:R1052H|.	R|V	+|+	2|1	0|0	WDR64|WDR64	240026288|240026288	0.998000|0.998000	0.40836|0.40836	0.928000|0.928000	0.36995|0.36995	0.041000|0.041000	0.13682|0.13682	2.370000|2.370000	0.44240|0.44240	-0.069000|-0.069000	0.12931|0.12931	-0.339000|-0.339000	0.08088|0.08088	CGT|GTG		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		48	213	0	0	0	1	0	48	213				
CCNF	899	broad.mit.edu	37	16	2499376	2499376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2499376T>C	ENST00000397066.4	+	12	1400	c.1312T>C	c.(1312-1314)Tcc>Ccc	p.S438P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	438					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGCGAGCTCTCCCTGCTGCA	0.652																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1312-1314)Tcc>Ccc		cyclin F							46.0	45.0	45.0					16																	2499376		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2499376T>C	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1312T>C	16.37:g.2499376T>C	ENSP00000380256:p.Ser438Pro						p.S438P	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			12	1400	+		Ovarian(90;0.17)	438					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1312T>C	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435819	0.83885	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.27720	1.65	5.43	4.31	0.51392	Cyclin, C-terminal (1);Cyclin-like (3);	0.050440	0.85682	D	0.000000	T	0.57344	0.2047	M	0.89715	3.055	0.52501	D	0.999954	P	0.50066	0.931	P	0.61003	0.882	T	0.62978	-0.6739	10	0.87932	D	0	-28.9433	10.3694	0.44044	0.1518:0.0:0.0:0.8482	.	438	P41002	CCNF_HUMAN	P	438;353	ENSP00000380256:S438P	ENSP00000293968:S353P	S	+	1	0	CCNF	2439377	1.000000	0.71417	0.957000	0.39632	0.987000	0.75469	4.524000	0.60552	0.853000	0.35312	0.460000	0.39030	TCC		0.652	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		73	245	0	0	0	1	0	73	245				
FBXL18	80028	broad.mit.edu	37	7	5540606	5540606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5540606C>T	ENST00000382368.3	-	3	1417	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	432									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggtcggcgcgcggcgcg	0.741																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(1294-1296)Gcc>Acc		F-box and leucine-rich repeat protein 18							7.0	10.0	9.0					7																	5540606		2069	3972	6041	SO:0001583	missense	80028							g.chr7:5540606C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1294G>A	7.37:g.5540606C>T	ENSP00000371805:p.Ala432Thr					FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	p.A432T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1417	-		Ovarian(82;0.0607)	432					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1294G>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139483	0.01728	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.42900	0.98;0.96	5.36	2.33	0.28932	.	0.664063	0.15998	N	0.234441	T	0.15305	0.0369	N	0.04508	-0.205	0.09310	N	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.003;0.001	T	0.19582	-1.0301	10	0.13470	T	0.59	.	3.1383	0.06447	0.1271:0.5114:0.1824:0.1791	.	432;432	F5H4Z4;Q96ME1-4	.;.	T	432	ENSP00000371805:A432T;ENSP00000444797:A432T	ENSP00000311990:A432T	A	-	1	0	FBXL18	5507132	.	.	0.030000	0.17652	0.010000	0.07245	.	.	0.631000	0.30412	0.585000	0.79938	GCC		0.741	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		13	112	0	0	0	1	0	13	112				
GRM5	2915	broad.mit.edu	37	11	88301064	88301064	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88301064A>G	ENST00000305447.4	-	7	1936	c.1787T>C	c.(1786-1788)tTt>tCt	p.F596S	GRM5_ENST00000305432.5_Missense_Mutation_p.F596S|GRM5_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_Missense_Mutation_p.F596S|GRM5_ENST00000418177.2_Missense_Mutation_p.F596S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	596					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TACAGTAACAAACAGGGTGGC	0.517																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1786-1788)tTt>tCt		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						70.0	65.0	67.0					11																	88301064		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88301064A>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1787T>C	11.37:g.88301064A>G	ENSP00000306138:p.Phe596Ser					GRM5_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000305432.5_Missense_Mutation_p.F596S|GRM5_ENST00000305447.4_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_Missense_Mutation_p.F596S	p.F596S			P41594	GRM5_HUMAN			8	2154	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	596					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1787T>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445172	0.63178	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	L	0.50333	1.59	0.51482	D	0.999926	D;D	0.76494	0.999;0.98	D;P	0.80764	0.994;0.828	D	0.91831	0.5475	9	.	.	.	.	15.9905	0.80202	1.0:0.0:0.0:0.0	.	596;596	P41594-2;P41594	.;GRM5_HUMAN	S	596	ENSP00000402912:F596S;ENSP00000405690:F596S;ENSP00000305905:F596S;ENSP00000306138:F596S;ENSP00000376975:F596S	.	F	-	2	0	GRM5	87940712	1.000000	0.71417	0.985000	0.45067	0.769000	0.43574	7.576000	0.82467	2.187000	0.69744	0.533000	0.62120	TTT		0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		10	221	0	0	0	1	0	10	221				
SLC1A1	6505	broad.mit.edu	37	9	4583161	4583161	+	Silent	SNP	C	C	T	rs371758046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4583161C>T	ENST00000262352.3	+	11	1553	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	439					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	TCATTGCTGTCGACTGGCTCC	0.612																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.(1315-1317)gtC>gtT		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	C		1,4405	2.1+/-5.4	0,1,2202	139.0	121.0	127.0		1317	-10.3	0.1	9		127	0,8600		0,0,4300	no	coding-synonymous	SLC1A1	NM_004170.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		439/525	4583161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4583161C>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1317C>T	9.37:g.4583161C>T							p.V439V	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	11	1553	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	439					O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	37	c.1317C>T	CCDS6452.1																																																																																				0.612	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			97	529	0	0	0	1	0	97	529				
SLC30A7	148867	broad.mit.edu	37	1	101377772	101377772	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101377772T>C	ENST00000370112.4	+	5	676	c.489T>C	c.(487-489)ggT>ggC	p.G163G	SLC30A7_ENST00000357650.4_Silent_p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	163	His-rich loop.				cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		AACATGGAGGTCATGGACATT	0.378																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(487-489)ggT>ggC		solute carrier family 30 (zinc transporter), member 7							227.0	213.0	218.0					1																	101377772		2203	4300	6503	SO:0001819	synonymous_variant	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101377772T>C	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.489T>C	1.37:g.101377772T>C						SLC30A7_ENST00000357650.4_Silent_p.G163G	p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	676	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	163			His-rich loop.		B2R949|D3DT61|Q8TCH2	Silent	SNP	ENST00000370112.4	37	c.489T>C	CCDS776.1																																																																																				0.378	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		114	765	0	0	0	1	0	114	765				
CCNY	219771	broad.mit.edu	37	10	35842011	35842011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35842011T>C	ENST00000374704.4	+	8	824	c.644T>C	c.(643-645)aTt>aCt	p.I215T	CCNY_ENST00000374706.1_Missense_Mutation_p.I161T|CCNY_ENST00000339497.5_Missense_Mutation_p.I190T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	215	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGGAAGCGGATTGTTTTAGGG	0.493																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(643-645)aTt>aCt		cyclin Y							132.0	132.0	132.0					10																	35842011		2203	4300	6503	SO:0001583	missense	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35842011T>C	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.644T>C	10.37:g.35842011T>C	ENSP00000363836:p.Ile215Thr					CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T|CCNY_ENST00000339497.5_Missense_Mutation_p.I190T|CCNY_ENST00000374706.1_Missense_Mutation_p.I161T	p.I215T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			8	824	+			215			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	c.644T>C	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797952	0.70567	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.046078	0.85682	D	0.000000	T	0.44414	0.1292	M	0.91972	3.26	0.80722	D	1	D;P;P	0.52996	0.957;0.837;0.866	P;P;P	0.62298	0.9;0.71;0.665	T	0.56414	-0.7983	10	0.87932	D	0	0.0576	15.5752	0.76373	0.0:0.0:0.0:1.0	.	82;190;215	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	T	161;215;215;190;161;82	ENSP00000363838:I161T;ENSP00000363836:I215T;ENSP00000344275:I190T;ENSP00000265375:I161T	ENSP00000265375:I161T	I	+	2	0	CCNY	35882017	1.000000	0.71417	0.960000	0.40013	0.883000	0.51084	7.965000	0.87945	2.142000	0.66516	0.533000	0.62120	ATT		0.493	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		105	406	0	0	0	1	0	105	406				
USP17L2	377630	broad.mit.edu	37	8	11994754	11994754	+	Missense_Mutation	SNP	C	C	T	rs371735438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994754C>T	ENST00000333796.3	-	1	1832	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	506	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCAGAGAAGCGAGGGTGCCA	0.547																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1516-1518)Gct>Act		ubiquitin specific peptidase 17-like family member 2							69.0	79.0	76.0					8																	11994754		1431	3000	4431	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11994754C>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1516G>A	8.37:g.11994754C>T	ENSP00000333329:p.Ala506Thr					FAM66D_ENST00000434078.2_RNA	p.A506T	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1832	-			506						Missense_Mutation	SNP	ENST00000333796.3	37	c.1516G>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.324057	0.01309	.	.	ENSG00000223443	ENST00000333796	T	0.11930	2.73	0.418	-0.836	0.10770	.	3.924260	0.01239	U	0.008577	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24548	-1.0157	9	0.24483	T	0.36	.	.	.	.	.	506	Q6R6M4	U17L2_HUMAN	T	506	ENSP00000333329:A506T	ENSP00000333329:A506T	A	-	1	0	USP17L2	12032163	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-1.537000	0.02206	-2.082000	0.00868	-2.139000	0.00339	GCT		0.547	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		20	496	0	0	0	1	0	20	496				
SLC12A7	10723	broad.mit.edu	37	5	1052541	1052541	+	Silent	SNP	G	G	A	rs138980870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052541G>A	ENST00000264930.5	-	24	3229	c.3186C>T	c.(3184-3186)acC>acT	p.T1062T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1062					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCAGCCCCTCGGTCAGGACTT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20197	0.001		0.0	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(3184-3186)acC>acT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		0,4406		0,0,2203	93.0	91.0	92.0		3186	-7.8	0.8	5	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1062/1084	1052541	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1052541G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3186C>T	5.37:g.1052541G>A							p.T1062T	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		24	3229	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		1062					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.3186C>T	CCDS34129.1																																																																																				0.552	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		33	507	0	0	0	1	0	33	507				
CENPE	1062	broad.mit.edu	37	4	104041484	104041484	+	Nonsense_Mutation	SNP	G	G	A	rs267599968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104041484G>A	ENST00000265148.3	-	44	7239	c.7150C>T	c.(7150-7152)Cga>Tga	p.R2384*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.R2263*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2384	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCAGCTCTCGAATTTTCTAT	0.328																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7150-7152)Cga>Tga		centromere protein E, 312kDa							82.0	71.0	75.0					4																	104041484		2202	4297	6499	SO:0001587	stop_gained	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104041484G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7150C>T	4.37:g.104041484G>A	ENSP00000265148:p.Arg2384*					CENPE_ENST00000380026.3_Nonsense_Mutation_p.R2263*	p.R2384*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	44	7239	-			2384			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	c.7150C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	46	12.817774	0.99698	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.62	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	10.2376	0.43292	0.0:0.0:0.8017:0.1982	.	.	.	.	X	2384;2263	.	ENSP00000265148:R2384X	R	-	1	2	CENPE	104260933	1.000000	0.71417	0.916000	0.36221	0.067000	0.16453	1.925000	0.40074	1.011000	0.39340	0.655000	0.94253	CGA		0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	123	0	0	0	1	0	24	123				
CHRNA7	1139	broad.mit.edu	37	15	32460281	32460281	+	Silent	SNP	G	G	A	rs201968105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32460281G>A	ENST00000306901.3	+	10	1228	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	CHRNA7_ENST00000454250.3_Silent_p.P406P|CHRNA7_ENST00000455693.2_Silent_p.P196P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	377					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGGCGCCGCCGCCCGCCAGCA	0.706																																					Esophageal Squamous(193;529 2900 40232 43193)	ENST00000306901.3																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12						c.(1129-1131)ccG>ccA		cholinergic receptor, nicotinic, alpha 7 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						21.0	28.0	26.0					15																	32460281		2191	4295	6486	SO:0001819	synonymous_variant	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460281G>A	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1131G>A	15.37:g.32460281G>A						CHRNA7_ENST00000454250.3_Silent_p.P406P|CHRNA7_ENST00000455693.2_Silent_p.P196P	p.P377P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	1228	+		all_lung(180;6.35e-11)	377					A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	ENST00000306901.3	37	c.1131G>A	CCDS10027.1																																																																																				0.706	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			62	451	0	0	0	1	0	62	451				
USP15	9958	broad.mit.edu	37	12	62696619	62696619	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62696619A>G	ENST00000280377.5	+	3	324	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C|USP15_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000393654.3_Missense_Mutation_p.Y89C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	89	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATTGGATTACATACTGTTG	0.363																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(265-267)tAc>tGc		ubiquitin specific peptidase 15							138.0	133.0	135.0					12																	62696619		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62696619A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.266A>G	12.37:g.62696619A>G	ENSP00000280377:p.Tyr89Cys					USP15_ENST00000393654.3_Missense_Mutation_p.Y89C|USP15_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C	p.Y89C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	3	324	+			89			DUSP.		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.266A>G	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.651365|4.651365	0.88056|0.88056	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000549237|ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836	.|T;T;T	.|0.32272	.|1.47;1.6;1.46	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	.|0.062437	.|0.64402	.|D	.|0.000003	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.90542|0.90542	3.125|3.125	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	.|0.999;1.0;1.0;1.0;1.0	T|T	0.71656|0.71656	-0.4527|-0.4527	5|9	.|.	.|.	.|.	-8.6905|-8.6905	15.9922|15.9922	0.80214|0.80214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|89;89;89;89;89	.|B7Z3J0;B4DN46;Q9Y4E8;Q9Y4E8-2;Q9H8G9	.|.;.;UBP15_HUMAN;.;.	A|C	85|89;89;89;89;89;35	.|ENSP00000258123:Y89C;ENSP00000280377:Y89C;ENSP00000377264:Y89C	.|.	T|Y	+|+	1|2	0|0	USP15|USP15	60982886|60982886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.284000|9.284000	0.95882|0.95882	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	ACA|TAC		0.363	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		93	395	0	0	0	1	0	93	395				
CSMD3	114788	broad.mit.edu	37	8	113418858	113418858	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113418858A>C	ENST00000297405.5	-	35	5948	c.5704T>G	c.(5704-5706)Ttt>Gtt	p.F1902V	CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1902	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACAATCAAAAAGAACCGAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5704-5706)Ttt>Gtt		CUB and Sushi multiple domains 3							121.0	116.0	118.0					8																	113418858		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418858A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5704T>G	8.37:g.113418858A>C	ENSP00000297405:p.Phe1902Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V	p.F1902V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			35	5948	-			1902			Sushi 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5704T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817349	0.90790	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.92691	3.335	0.48040	D	0.999579	D;B;D	0.76494	0.985;0.016;0.999	P;B;D	0.91635	0.771;0.02;0.999	D	0.88209	0.2889	10	0.52906	T	0.07	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	1798;1902;1862	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1862;1902;1172;1798;1832	ENSP00000345799:F1862V;ENSP00000297405:F1902V;ENSP00000341558:F1172V;ENSP00000412263:F1798V;ENSP00000343124:F1832V	ENSP00000297405:F1902V	F	-	1	0	CSMD3	113488034	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.087000	0.94110	2.198000	0.70561	0.533000	0.62120	TTT		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		84	365	0	0	0	1	0	84	365				
MYT1	4661	broad.mit.edu	37	20	62838959	62838959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62838959T>C	ENST00000328439.1	+	7	774	c.410T>C	c.(409-411)gTc>gCc	p.V137A	MYT1_ENST00000536311.1_Missense_Mutation_p.V137A|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAGCCCCGTCAAGTCCCAT	0.582																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(409-411)gTc>gCc		myelin transcription factor 1							81.0	89.0	86.0					20																	62838959		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62838959T>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.410T>C	20.37:g.62838959T>C	ENSP00000327465:p.Val137Ala					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.V137A	p.V137A			Q01538	MYT1_HUMAN			7	774	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		137					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.410T>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	6.751	0.507434	0.12883	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.36699	1.24;1.24	4.29	-0.302	0.12796	.	2.154190	0.02314	N	0.072344	T	0.18467	0.0443	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11012	-1.0605	10	0.08381	T	0.77	-2.8656	3.0817	0.06265	0.2218:0.4444:0.0:0.3339	.	137	Q01538	MYT1_HUMAN	A	137	ENSP00000327465:V137A;ENSP00000442412:V137A	ENSP00000327465:V137A	V	+	2	0	MYT1	62309403	0.000000	0.05858	0.001000	0.08648	0.907000	0.53573	0.105000	0.15333	0.184000	0.20083	0.373000	0.22412	GTC		0.582	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		126	551	0	0	0	1	0	126	551				
RHBDF1	64285	broad.mit.edu	37	16	113124	113124	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:113124T>C	ENST00000262316.6	-	5	661	c.519A>G	c.(517-519)gaA>gaG	p.E173E	RHBDF1_ENST00000454039.2_Silent_p.E173E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	173					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CACTCAGGCCTTCCGCAGTGT	0.682																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(517-519)gaA>gaG		rhomboid 5 homolog 1 (Drosophila)							39.0	39.0	39.0					16																	113124		2183	4274	6457	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:113124T>C	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.519A>G	16.37:g.113124T>C						RHBDF1_ENST00000454039.2_Silent_p.E173E	p.E173E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			5	661	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	173					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.519A>G	CCDS32344.1																																																																																				0.682	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		13	70	0	0	0	1	0	13	70				
TFCP2L1	29842	broad.mit.edu	37	2	122005784	122005784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122005784C>T	ENST00000263707.5	-	5	557	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	154					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACAAAAACTCGACTGCATTC	0.547																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(460-462)Gag>Aag		transcription factor CP2-like 1							66.0	62.0	63.0					2																	122005784		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122005784C>T	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.460G>A	2.37:g.122005784C>T	ENSP00000263707:p.Glu154Lys						p.E154K	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			5	557	-	Renal(3;0.01)		154					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.460G>A	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743314	0.89663	.	.	ENSG00000115112	ENST00000263707	T	0.18502	2.21	4.96	4.96	0.65561	CP2 transcription factor (1);	0.116475	0.56097	N	0.000024	T	0.48132	0.1483	M	0.88377	2.95	0.80722	D	1	B;D	0.60160	0.035;0.987	B;D	0.65874	0.137;0.939	T	0.53542	-0.8424	10	0.39692	T	0.17	.	18.6315	0.91361	0.0:1.0:0.0:0.0	.	154;154	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	K	154	ENSP00000263707:E154K	ENSP00000263707:E154K	E	-	1	0	TFCP2L1	121722254	1.000000	0.71417	0.914000	0.36105	0.473000	0.32948	7.748000	0.85085	2.459000	0.83118	0.650000	0.86243	GAG		0.547	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		13	137	0	0	0	1	0	13	137				
GABRA5	2558	broad.mit.edu	37	15	27114471	27114471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27114471A>G	ENST00000335625.5	+	3	964	c.76A>G	c.(76-78)Agt>Ggt	p.S26G	GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	26					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GAACTTATCCAGTCACTTTGG	0.393																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(76-78)Agt>Ggt		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						175.0	172.0	173.0					15																	27114471		1936	4155	6091	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27114471A>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.76A>G	15.37:g.27114471A>G	ENSP00000335592:p.Ser26Gly					GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G	p.S26G	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	3	964	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	26					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.76A>G	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776450	0.49786	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000557484;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.80653	-0.55;-0.55;-0.55;-1.08;-1.08;-1.4	5.82	5.82	0.92795	.	0.343920	0.32134	N	0.006526	T	0.62405	0.2425	N	0.08118	0	0.34251	D	0.67878	B	0.02656	0.0	B	0.01281	0.0	T	0.64896	-0.6299	10	0.17832	T	0.49	.	12.5835	0.56403	1.0:0.0:0.0:0.0	.	26	P31644	GBRA5_HUMAN	G	26	ENSP00000335592:S26G;ENSP00000347557:S26G;ENSP00000382953:S26G;ENSP00000451527:S26G;ENSP00000450806:S26G;ENSP00000450717:S26G	ENSP00000335592:S26G	S	+	1	0	GABRA5	24665564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	2.216000	0.71823	0.533000	0.62120	AGT		0.393	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			71	309	0	0	0	1	0	71	309				
ZNF695	57116	broad.mit.edu	37	1	247163304	247163304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247163304G>A	ENST00000339986.7	-	2	223	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACAAACTCCGCTGAGCTGGG	0.433																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(76-78)Cgg>Tgg		zinc finger protein 695							68.0	74.0	72.0					1																	247163304		2195	4293	6488	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247163304G>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.76C>T	1.37:g.247163304G>A	ENSP00000341236:p.Arg26Trp					ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W|ZNF695_ENST00000498046.2_Intron	p.R26W	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		2	223	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	26			KRAB.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.76C>T	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398650	0.11696	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.03004	4.08;4.08	0.588	-1.18	0.09617	Krueppel-associated box (4);	.	.	.	.	T	0.15046	0.0363	M	0.86864	2.845	0.21386	N	0.999701	D;D;B	0.76494	0.999;0.995;0.169	D;P;B	0.69654	0.965;0.863;0.01	T	0.04693	-1.0933	8	0.72032	D	0.01	.	.	.	.	.	26;26;26	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	W	26	ENSP00000429736:R26W;ENSP00000341236:R26W	ENSP00000428213:R26W	R	-	1	2	ZNF695	245229927	0.200000	0.23398	0.488000	0.27440	0.029000	0.11900	0.703000	0.25646	-0.583000	0.05921	0.195000	0.17529	CGG		0.433	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		106	298	0	0	0	1	0	106	298				
MAST1	22983	broad.mit.edu	37	19	12977513	12977513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12977513C>T	ENST00000251472.4	+	18	2115	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACGAGGATGACACGACGGAGG	0.617																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2074-2076)gaC>gaT		microtubule associated serine/threonine kinase 1							78.0	56.0	63.0					19																	12977513		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977513C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2076C>T	19.37:g.12977513C>T							p.D692D	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			18	2115	+			692			AGC-kinase C-terminal.			Silent	SNP	ENST00000251472.4	37	c.2076C>T	CCDS32921.1																																																																																				0.617	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		20	150	0	0	0	1	0	20	150				
LAMB4	22798	broad.mit.edu	37	7	107743565	107743565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107743565C>T	ENST00000388781.3	-	10	1187	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	LAMB4_ENST00000414450.2_Silent_p.G368G|LAMB4_ENST00000205386.4_Silent_p.G368G|LAMB4_ENST00000418464.1_Silent_p.G368G|LAMB4_ENST00000388780.3_Silent_p.G368G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	368	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CGCAGTGCTGCCCCTCAGTGT	0.612																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1102-1104)ggG>ggA		laminin, beta 4							61.0	51.0	55.0					7																	107743565		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107743565C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1104G>A	7.37:g.107743565C>T						LAMB4_ENST00000388780.3_Silent_p.G368G|LAMB4_ENST00000205386.4_Silent_p.G368G|LAMB4_ENST00000414450.2_Silent_p.G368G	p.G368G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			10	1187	-			368			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.1104G>A	CCDS34732.1																																																																																				0.612	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		28	127	0	0	0	1	0	28	127				
LINGO1	84894	broad.mit.edu	37	15	77907931	77907931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77907931G>A	ENST00000355300.6	-	2	492	c.318C>T	c.(316-318)atC>atT	p.I106I	LINGO1_ENST00000561030.1_Silent_p.I100I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	106					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGCGCTCACGATGTTCTCGT	0.627																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(316-318)atC>atT		leucine rich repeat and Ig domain containing 1							35.0	39.0	38.0					15																	77907931		2060	4201	6261	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907931G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.318C>T	15.37:g.77907931G>A						LINGO1_ENST00000561030.1_Silent_p.I100I	p.I106I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	492	-			106					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.318C>T	CCDS45313.1																																																																																				0.627	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		11	87	0	0	0	1	0	11	87				
MX1	4599	broad.mit.edu	37	21	42830566	42830566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42830566G>T	ENST00000398600.2	+	19	2895	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	MX1_ENST00000455164.2_Missense_Mutation_p.D624Y|MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000288383.6_Missense_Mutation_p.D601Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	624	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAGGACAAGGACACCTACAG	0.617																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1870-1872)Gac>Tac		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							112.0	108.0	109.0					21																	42830566		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42830566G>T		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1870G>T	21.37:g.42830566G>T	ENSP00000381601:p.Asp624Tyr					MX1_ENST00000288383.6_Missense_Mutation_p.D601Y|MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000455164.2_Missense_Mutation_p.D624Y	p.D624Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			19	2895	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	624			GED.		B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1870G>T	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406273	0.83230	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	4.7	4.7	0.59300	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.317331	0.36932	N	0.002327	T	0.69904	0.3163	M	0.77616	2.38	0.52501	D	0.99995	D	0.60160	0.987	D	0.63381	0.914	T	0.74334	-0.3699	10	0.87932	D	0	-15.9133	13.8894	0.63729	0.0:0.0:1.0:0.0	.	624	P20591	MX1_HUMAN	Y	624;624;624;601	ENSP00000381601:D624Y;ENSP00000381599:D624Y;ENSP00000410523:D624Y;ENSP00000288383:D601Y	ENSP00000288383:D601Y	D	+	1	0	MX1	41752436	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	3.882000	0.56160	2.547000	0.85894	0.655000	0.94253	GAC		0.617	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			129	518	1	0	4.22328e-53	1	5.25993e-53	129	518				
CDC42BPG	55561	broad.mit.edu	37	11	64602876	64602876	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64602876C>A	ENST00000342711.5	-	16	1895	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ACAGAGCCTCCTCCTTACCAC	0.672																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(1894-1896)gaG>gaT		CDC42 binding protein kinase gamma (DMPK-like)							181.0	191.0	187.0					11																	64602876		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64602876C>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1896G>T	11.37:g.64602876C>A	ENSP00000345133:p.Glu632Asp						p.E632D	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			16	1895	-			632						Missense_Mutation	SNP	ENST00000342711.5	37	c.1896G>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054298	0.55218	.	.	ENSG00000171219	ENST00000342711	T	0.52057	0.68	4.72	0.326	0.15908	.	0.309656	0.24836	N	0.035208	T	0.48926	0.1527	L	0.36672	1.1	0.25851	N	0.98394	D	0.64830	0.994	D	0.70716	0.97	T	0.31475	-0.9942	10	0.54805	T	0.06	.	4.3078	0.10956	0.3085:0.5054:0.0:0.1861	.	632	Q6DT37	MRCKG_HUMAN	D	632	ENSP00000345133:E632D	ENSP00000345133:E632D	E	-	3	2	CDC42BPG	64359452	0.998000	0.40836	0.985000	0.45067	0.753000	0.42808	0.675000	0.25232	0.160000	0.19432	-0.258000	0.10820	GAG		0.672	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		350	1573	1	0	1.52288e-82	1	1.94913e-82	350	1573				
DMRTA2	63950	broad.mit.edu	37	1	50884924	50884924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50884924C>T	ENST00000404795.3	-	3	1434	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	DMRTA2_ENST00000418121.1_Missense_Mutation_p.E348K	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	348	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						AGCACCTGCTCGATGGCCTGC	0.716																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(1042-1044)Gag>Aag		DMRT-like family A2							8.0	10.0	9.0					1																	50884924		1899	3900	5799	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50884924C>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.1042G>A	1.37:g.50884924C>T	ENSP00000383909:p.Glu348Lys					DMRTA2_ENST00000418121.1_Missense_Mutation_p.E348K	p.E348K	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1434	-			348			Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.1042G>A	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504364	0.96371	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	D;D	0.84298	-1.83;-1.83	3.8	3.8	0.43715	DMRTA motif (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	M	0.89904	3.07	0.54753	D	0.999983	D	0.60575	0.988	P	0.57548	0.823	D	0.93896	0.7184	10	0.87932	D	0	-10.9529	14.946	0.71032	0.0:1.0:0.0:0.0	.	348	Q96SC8	DMTA2_HUMAN	K	348	ENSP00000383909:E348K;ENSP00000399370:E348K	ENSP00000383909:E348K	E	-	1	0	DMRTA2	50657511	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.004000	0.57068	2.107000	0.64212	0.462000	0.41574	GAG		0.716	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		18	98	0	0	0	1	0	18	98				
ADAMTS5	11096	broad.mit.edu	37	21	28296425	28296425	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28296425G>T	ENST00000284987.5	-	8	2861	c.2740C>A	c.(2740-2742)Cct>Act	p.P914T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	914	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGGAGAGAGGACATCCTTTT	0.507																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2740-2742)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 5							93.0	76.0	82.0					21																	28296425		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296425G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2740C>A	21.37:g.28296425G>T	ENSP00000284987:p.Pro914Thr					AP001601.2_ENST00000426771.1_RNA	p.P914T	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2861	-			914			TSP type-1 2.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2740C>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278957	0.10458	.	.	ENSG00000154736	ENST00000284987	T	0.50277	0.75	6.07	5.18	0.71444	.	0.419349	0.27846	N	0.017613	T	0.31104	0.0786	N	0.08118	0	0.22684	N	0.998853	B	0.02656	0.0	B	0.06405	0.002	T	0.15838	-1.0423	10	0.37606	T	0.19	.	16.9877	0.86345	0.0:0.0:0.8717:0.1282	.	914	Q9UNA0	ATS5_HUMAN	T	914	ENSP00000284987:P914T	ENSP00000284987:P914T	P	-	1	0	ADAMTS5	27218296	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.614000	0.46359	1.551000	0.49450	0.655000	0.94253	CCT		0.507	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			66	251	1	0	5.89852e-23	1	6.69324e-23	66	251				
PCDHGA9	56107	broad.mit.edu	37	5	140784890	140784890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784890T>G	ENST00000573521.1	+	1	2371	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	791			L -> F (in dbSNP:rs17097274).		homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGAGCCTTTGTGCGTCTC	0.443																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2371-2373)Ttg>Gtg									76.0	84.0	81.0					5																	140784890		2195	4298	6493	SO:0001583	missense	0							g.chr5:140784890T>G	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2371T>G	5.37:g.140784890T>G	ENSP00000460274:p.Leu791Val					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L791V	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2371	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2371T>G	CCDS58981.1																																																																																				0.443	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		67	332	0	0	0	1	0	67	332				
CDKL5	6792	broad.mit.edu	37	X	18646512	18646512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18646512C>T	ENST00000379989.3	+	19	2803	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	840					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AAAATCACTGCGCAAGTTGTT	0.493																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2518-2520)Cgc>Tgc		cyclin-dependent kinase-like 5							251.0	266.0	261.0					X																	18646512		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18646512C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2518C>T	X.37:g.18646512C>T	ENSP00000369325:p.Arg840Cys					CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			19	2803	+	Hepatocellular(33;0.183)		840					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2518C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246893	0.59103	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75367	-0.93;-0.93	5.73	5.73	0.89815	.	0.049980	0.85682	D	0.000000	T	0.77928	0.4204	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.64506	0.926	T	0.80054	-0.1543	10	0.87932	D	0	-17.7035	12.2655	0.54676	0.0:0.9208:0.0:0.0792	.	840	O76039	CDKL5_HUMAN	C	840	ENSP00000369332:R840C;ENSP00000369325:R840C	ENSP00000369325:R840C	R	+	1	0	CDKL5	18556433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.594000	0.67557	2.398000	0.81561	0.594000	0.82650	CGC		0.493	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		411	1517	0	0	0	1	0	411	1517				
HPN	3249	broad.mit.edu	37	19	35550662	35550662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35550662C>T	ENST00000262626.2	+	5	1071	c.246C>T	c.(244-246)aaC>aaT	p.N82N	HPN_ENST00000597419.1_Silent_p.N34N|HPN_ENST00000600675.1_3'UTR|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.N82N	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	82	SRCR.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGCGCTCCAACGCCAGGGTAG	0.682																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(244-246)aaC>aaT		hepsin	Coagulation factor VIIa(DB00036)						17.0	14.0	15.0					19																	35550662		2195	4293	6488	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35550662C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.246C>T	19.37:g.35550662C>T						HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.N34N|HPN_ENST00000392226.1_Silent_p.N82N|HPN_ENST00000600675.1_3'UTR	p.N82N	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1071	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		82			SRCR.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.246C>T	CCDS32993.1																																																																																				0.682	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		10	39	0	0	0	1	0	10	39				
ADD2	119	broad.mit.edu	37	2	70933444	70933444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933444G>A	ENST00000264436.4	-	3	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	33					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCGAAGGCGCATGTACTCG	0.647																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(97-99)Cgc>Tgc		adducin 2 (beta)							56.0	58.0	57.0					2																	70933444		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70933444G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.97C>T	2.37:g.70933444G>A	ENSP00000264436:p.Arg33Cys					ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C|ADD2_ENST00000407644.2_Missense_Mutation_p.R33C	p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			3	541	-			33					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.97C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706310	0.68615	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.89	3.05	0.35203	.	0.070702	0.56097	D	0.000029	T	0.54382	0.1855	M	0.82630	2.6	0.45150	D	0.998168	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.996	D;D;P;D;P;P	0.65684	0.937;0.928;0.854;0.937;0.902;0.653	T	0.60490	-0.7253	10	0.87932	D	0	-10.9604	12.008	0.53270	0.0:0.0:0.6865:0.3135	.	49;33;33;33;33;33	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	33;33;33;33;33;33;33;33;33;49;33;33	ENSP00000264436:R33C;ENSP00000384677:R33C;ENSP00000347972:R33C;ENSP00000430243:R33C;ENSP00000388072:R33C;ENSP00000398112:R49C;ENSP00000412357:R33C;ENSP00000412681:R33C	ENSP00000264436:R33C	R	-	1	0	ADD2	70786952	1.000000	0.71417	0.918000	0.36340	0.548000	0.35241	4.820000	0.62671	0.735000	0.32537	0.591000	0.81541	CGC		0.647	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		139	346	0	0	0	1	0	139	346				
ANO7	50636	broad.mit.edu	37	2	242149899	242149899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242149899G>A	ENST00000274979.8	+	15	1740	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	546					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCATCGCCAGCCTCACGGGG	0.647																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1636-1638)aGc>aAc		anoctamin 7							106.0	90.0	95.0					2																	242149899		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242149899G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1637G>A	2.37:g.242149899G>A	ENSP00000274979:p.Ser546Asn					ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	p.S546N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			15	1740	+			546					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1637G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325705	0.24080	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.65364	-0.15;-0.15	3.49	-0.713	0.11223	.	0.271180	0.33534	N	0.004817	T	0.45915	0.1366	L	0.37897	1.145	0.28974	N	0.889087	B	0.22080	0.064	B	0.29942	0.109	T	0.36383	-0.9750	10	0.16420	T	0.52	.	8.2936	0.31971	0.5136:0.0:0.4864:0.0	.	546	Q6IWH7	ANO7_HUMAN	N	546;545	ENSP00000274979:S546N;ENSP00000385418:S545N	ENSP00000274979:S546N	S	+	2	0	ANO7	241798572	0.520000	0.26250	0.053000	0.19242	0.273000	0.26683	0.728000	0.26013	-0.134000	0.11516	0.313000	0.20887	AGC		0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		82	385	0	0	0	1	0	82	385				
SYTL5	94122	broad.mit.edu	37	X	37969635	37969635	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37969635A>C	ENST00000357972.5	+	13	2042	c.1496A>C	c.(1495-1497)gAt>gCt	p.D499A	SYTL5_ENST00000297875.2_Missense_Mutation_p.D499A|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.D521A			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	499	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGCACTATGATCGATTTGGA	0.448																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1495-1497)gAt>gCt		synaptotagmin-like 5							159.0	128.0	138.0					X																	37969635		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37969635A>C		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1496A>C	X.37:g.37969635A>C	ENSP00000350657:p.Asp499Ala					SYTL5_ENST00000297875.2_Missense_Mutation_p.D499A|SYTL5_ENST00000456733.2_Missense_Mutation_p.D521A|TM4SF2_ENST00000465127.1_Intron	p.D499A			Q8TDW5	SYTL5_HUMAN			13	2042	+			499			C2 1.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1496A>C	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.565260	0.86439	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.12984	2.63;2.63;2.63	5.79	5.79	0.91817	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.979	T	0.63088	-0.6715	10	0.87932	D	0	-8.2787	15.109	0.72340	1.0:0.0:0.0:0.0	.	521;499	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	A	499;499;521	ENSP00000297875:D499A;ENSP00000350657:D499A;ENSP00000395220:D521A	ENSP00000297875:D499A	D	+	2	0	SYTL5	37854579	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.122000	0.77169	1.951000	0.56629	0.430000	0.28490	GAT		0.448	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		101	283	0	0	0	1	0	101	283				
NOS2	4843	broad.mit.edu	37	17	26110096	26110096	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26110096C>T	ENST00000313735.6	-	6	737	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	168					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCTTTGTTACCGCTTCCACCC	0.517																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(502-504)gcG>gcA		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						254.0	179.0	205.0					17																	26110096		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26110096C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.504G>A	17.37:g.26110096C>T							p.A168A	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			6	737	-			168					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.504G>A	CCDS11223.1																																																																																				0.517	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		57	342	0	0	0	1	0	57	342				
EPHA4	2043	broad.mit.edu	37	2	222428879	222428879	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222428879T>C	ENST00000281821.2	-	3	436	c.395A>G	c.(394-396)gAc>gGc	p.D132G	EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G|EPHA4_ENST00000409854.1_Missense_Mutation_p.D132G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	132	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACGCTCTTTGTCGTTGTCTGA	0.443																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(394-396)gAc>gGc		EPH receptor A4							172.0	157.0	162.0					2																	222428879		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428879T>C	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.395A>G	2.37:g.222428879T>C	ENSP00000281821:p.Asp132Gly					EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G|EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000409854.1_Missense_Mutation_p.D132G	p.D132G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	436	-		Renal(207;0.0183)	132					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.395A>G	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373050	0.61624	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.71581	2.175	0.80722	D	1	P	0.36712	0.566	B	0.40702	0.338	T	0.00443	-1.1736	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	132	P54764	EPHA4_HUMAN	G	132;132;132;81;73;132	ENSP00000281821:D132G;ENSP00000386276:D132G;ENSP00000386829:D132G;ENSP00000375923:D81G;ENSP00000410158:D73G;ENSP00000444085:D132G	ENSP00000281821:D132G	D	-	2	0	EPHA4	222137123	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.289000	0.72696	2.371000	0.80710	0.533000	0.62120	GAC		0.443	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			28	695	0	0	0	1	0	28	695				
RHOT2	89941	broad.mit.edu	37	16	721923	721923	+	Missense_Mutation	SNP	C	C	T	rs113238749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721923C>T	ENST00000315082.4	+	13	1132	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	340					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCAGCAGCGCCCTGGGGCCC	0.677																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1018-1020)Ccc>Tcc		ras homolog family member T2		C	SER/PRO	0,4400		0,0,2200	51.0	63.0	59.0		1018	5.3	1.0	16	dbSNP_132	59	1,8587	1.2+/-3.3	0,1,4293	no	missense	RHOT2	NM_138769.1	74	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	340/619	721923	1,12987	2200	4294	6494	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721923C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1018C>T	16.37:g.721923C>T	ENSP00000321971:p.Pro340Ser						p.P340S	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			13	1132	+		Hepatocellular(780;0.0218)	340					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1018C>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001027	0.93227	0.0	1.16E-4	ENSG00000140983	ENST00000315082	T	0.09073	3.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11155	-1.0599	10	0.72032	D	0.01	-3.178	17.5876	0.87987	0.0:1.0:0.0:0.0	.	340	Q8IXI1	MIRO2_HUMAN	S	340	ENSP00000321971:P340S	ENSP00000321971:P340S	P	+	1	0	RHOT2	661924	1.000000	0.71417	0.974000	0.42286	0.702000	0.40608	7.697000	0.84279	2.503000	0.84419	0.456000	0.33151	CCC		0.677	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		123	583	0	0	0	1	0	123	583				
HK2	3099	broad.mit.edu	37	2	75105841	75105841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75105841G>A	ENST00000290573.2	+	9	1658	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	HK2_ENST00000409174.1_Missense_Mutation_p.R325H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	353	Hexokinase type-2 1.|Regulatory.		R -> C (in dbSNP:rs61748096). {ECO:0000269|PubMed:7883120}.		apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGGAAGGCCCGTGAGGTCCTG	0.632																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1057-1059)cGt>cAt		hexokinase 2							34.0	26.0	29.0					2																	75105841		2199	4297	6496	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75105841G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1058G>A	2.37:g.75105841G>A	ENSP00000290573:p.Arg353His					HK2_ENST00000409174.1_Missense_Mutation_p.R325H	p.R353H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			9	1658	+			353		R -> C.	Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1058G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782262	0.31502	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96651	-4.08;-4.08	4.65	-3.72	0.04411	Hexokinase, C-terminal (1);	0.722806	0.14247	N	0.331688	D	0.91078	0.7192	L	0.55834	1.745	0.09310	N	1	B	0.27656	0.184	B	0.27076	0.076	T	0.81217	-0.1033	10	0.13108	T	0.6	-1.6936	4.6862	0.12758	0.5194:0.0:0.2105:0.2701	.	353	P52789	HXK2_HUMAN	H	353;353;325	ENSP00000290573:R353H;ENSP00000387140:R325H	ENSP00000290573:R353H	R	+	2	0	HK2	74959349	0.000000	0.05858	0.043000	0.18650	0.971000	0.66376	0.535000	0.23114	-0.466000	0.06943	0.655000	0.94253	CGT		0.632	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		24	46	0	0	0	1	0	24	46				
SYNE1	23345	broad.mit.edu	37	6	152466669	152466669	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152466669G>T	ENST00000367255.5	-	138	25578				SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.P488H|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8262H|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8262H|SYNE1_ENST00000265368.4_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGGCCTCAGGGCTTTCGGG	0.463										HNSCC(10;0.0054)																												ENST00000448038.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24784-24786)cCt>cAt		spectrin repeat containing, nuclear envelope 1							115.0	109.0	111.0					6																	152466669		2203	4300	6503	SO:0001627	intron_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152466669G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24977-1769C>A	6.37:g.152466669G>T		HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000354674.4_Missense_Mutation_p.P488H|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8262H	p.P8262H			Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	138	25386	-		Ovarian(120;0.0955)	8324					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24785C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238310	0.58886	.	.	ENSG00000131018	ENST00000423061;ENST00000448038;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T	0.53423	0.62;0.63;1.64;4.64	5.37	5.37	0.77165	.	.	.	.	.	T	0.57431	0.2053	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.68943	0.961;0.819	T	0.61912	-0.6965	9	0.72032	D	0.01	.	12.9001	0.58121	0.0841:0.0:0.9159:0.0	.	8262;8262	Q8NF91-4;E9PEL9	.;.	H	8262;8262;495;490;1255;488	ENSP00000396024:P8262H;ENSP00000390975:P8262H;ENSP00000356220:P1255H;ENSP00000346701:P488H	ENSP00000318783:P495H	P	-	2	0	SYNE1	152508362	1.000000	0.71417	0.389000	0.26208	0.978000	0.69477	5.643000	0.67895	2.514000	0.84764	0.650000	0.86243	CCT		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		60	207	1	0	5.82218e-30	1	6.81768e-30	60	207				
UBL3	5412	broad.mit.edu	37	13	30341410	30341410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30341410A>C	ENST00000380680.4	-	5	1481	c.336T>G	c.(334-336)aaT>aaG	p.N112K		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	112						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TTACACAACAATTACTCTCTC	0.433																																						ENST00000380680.4																			0				large_intestine(3)|lung(1)	4						c.(334-336)aaT>aaG		ubiquitin-like 3							127.0	104.0	112.0					13																	30341410		2203	4300	6503	SO:0001583	missense	5412					intracellular|plasma membrane		g.chr13:30341410A>C	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.336T>G	13.37:g.30341410A>C	ENSP00000370055:p.Asn112Lys						p.N112K	NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	5	1481	-		Lung SC(185;0.0281)	112					B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	c.336T>G	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089414	0.55968	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.6	-6.0	0.02206	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	N	0.08118	0	0.53688	D	0.999978	B	0.15141	0.012	B	0.14578	0.011	T	0.02533	-1.1145	9	0.27785	T	0.31	-9.8642	13.6483	0.62294	0.4808:0.0:0.5192:0.0	.	112	O95164	UBL3_HUMAN	K	112	.	ENSP00000370055:N112K	N	-	3	2	UBL3	29239410	1.000000	0.71417	0.503000	0.27626	0.995000	0.86356	0.770000	0.26618	-1.518000	0.01778	0.455000	0.32223	AAT		0.433	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106		48	266	0	0	0	1	0	48	266				
NEFL	4747	broad.mit.edu	37	8	24813505	24813505	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813505C>T	ENST00000221169.5	-	0	1119				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CATAGCGCGCCTGCAGGTTGC	0.716																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							12.0	13.0	12.0					8																	24813505		1986	4139	6125			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813505C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813505C>T										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1119	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.716	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		24	120	0	0	0	1	0	24	120				
PSMD9	5715	broad.mit.edu	37	12	122337749	122337749	+	Missense_Mutation	SNP	G	G	A	rs139208583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122337749G>A	ENST00000541212.1	+	3	577	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	151	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGCCAGCATCGCGGTAATCCA	0.622																																						ENST00000544724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(184-186)Gcg>Acg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 9		G	THR/ALA	1,4405		0,1,2202	34.0	39.0	37.0		451	4.7	1.0	12	dbSNP_134	37	0,8600		0,0,4300	no	missense	PSMD9	NM_002813.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	151/224	122337749	1,13005	2203	4300	6503	SO:0001583	missense	5715				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity	g.chr12:122337749G>A	AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"""Proteasome (prosome, macropain) subunits"""	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.451G>A	12.37:g.122337749G>A	ENSP00000440485:p.Ala151Thr					PSMD9_ENST00000541212.1_Missense_Mutation_p.A151T|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000542602.1_Intron|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T	p.A62T			O00233	PSMD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)	1	2573	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		151					B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	ENST00000541212.1	37	c.184G>A	CCDS9225.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809965	0.90707	2.27E-4	0.0	ENSG00000110801	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000544724	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.62	4.66	0.58398	PDZ/DHR/GLGF (2);	0.103761	0.64402	D	0.000002	T	0.60301	0.2258	H	0.98388	4.22	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.943	T	0.73062	-0.4101	10	0.66056	D	0.02	-36.6176	11.2076	0.48780	0.0:0.0:0.5971:0.4029	.	151;151	F8W7V8;O00233	.;PSMD9_HUMAN	T	151;151;151;151;62	ENSP00000440485:A151T;ENSP00000340847:A151T;ENSP00000261817:A151T;ENSP00000443081:A151T;ENSP00000443929:A62T	ENSP00000261817:A151T	A	+	1	0	PSMD9	120822132	1.000000	0.71417	0.952000	0.39060	0.845000	0.48019	3.743000	0.55104	2.648000	0.89879	0.563000	0.77884	GCG		0.622	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401686.1	NM_002813		38	221	0	0	0	1	0	38	221				
CPN1	1369	broad.mit.edu	37	10	101835819	101835819	+	Missense_Mutation	SNP	G	G	A	rs138185881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101835819G>A	ENST00000370418.3	-	2	520	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	90	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GCGGCCCAACGCTTCGTTGCC	0.557																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(268-270)gCg>gTg		carboxypeptidase N, polypeptide 1			VAL/ALA	0,4406		0,0,2203	118.0	99.0	106.0		269	0.7	1.0	10	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPN1	NM_001308.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	90/459	101835819	1,13005	2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835819G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.269C>T	10.37:g.101835819G>A	ENSP00000359446:p.Ala90Val						p.A90V	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	520	-		Colorectal(252;0.234)	90			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.269C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894347	0.02491	0.0	1.16E-4	ENSG00000120054	ENST00000370418	T	0.09723	2.95	5.59	0.741	0.18336	Peptidase M14, carboxypeptidase A (4);	0.221527	0.46145	N	0.000303	T	0.02012	0.0063	N	0.00392	-1.555	0.27509	N	0.951746	B	0.12013	0.005	B	0.06405	0.002	T	0.46289	-0.9202	10	0.02654	T	1	-42.9443	9.0393	0.36307	0.7156:0.0:0.2844:0.0	.	90	P15169	CBPN_HUMAN	V	90	ENSP00000359446:A90V	ENSP00000359446:A90V	A	-	2	0	CPN1	101825809	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	1.868000	0.39509	-0.101000	0.12219	-0.302000	0.09304	GCG		0.557	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		95	375	0	0	0	1	0	95	375				
RAB2B	84932	broad.mit.edu	37	14	21931868	21931868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21931868G>A	ENST00000397762.1	-	6	521	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	141					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ATAAGTCCATGCTCCCTAGCA	0.413																																					Melanoma(131;1007 1750 28652 34486 42672)	ENST00000397762.1																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(421-423)Cat>Tat		RAB2B, member RAS oncogene family							153.0	141.0	145.0					14																	21931868		2203	4300	6503	SO:0001583	missense	84932				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21931868G>A	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.421C>T	14.37:g.21931868G>A	ENSP00000380869:p.His141Tyr					RAB2B_ENST00000461909.1_5'UTR	p.H141Y	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	6	521	-	all_cancers(95;0.000858)		141					B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.421C>T	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131159	0.94473	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79653	-1.29	6.01	6.01	0.97437	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.74183	0.3683	N	0.25825	0.765	0.80722	D	1	B;B;P	0.39311	0.075;0.408;0.667	B;B;B	0.38056	0.19;0.264;0.258	T	0.77133	-0.2700	10	0.87932	D	0	.	19.2856	0.94067	0.0:0.0:1.0:0.0	.	141;95;76	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	Y	141	ENSP00000380869:H141Y	ENSP00000302005:H141Y	H	-	1	0	RAB2B	21001708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.113000	0.94321	2.850000	0.98022	0.655000	0.94253	CAT		0.413	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			89	368	0	0	0	1	0	89	368				
SLC25A22	79751	broad.mit.edu	37	11	792041	792041	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:792041C>T	ENST00000320230.5	-	10	1327	c.846G>A	c.(844-846)tcG>tcA	p.S282S	SLC25A22_ENST00000531214.1_Silent_p.S282S|CEND1_ENST00000524587.1_5'Flank|CEND1_ENST00000330106.4_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	282					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAGGAAGGCCGAGGGGCCCT	0.697																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(844-846)tcG>tcA		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						16.0	16.0	16.0					11																	792041		2191	4291	6482	SO:0001819	synonymous_variant	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792041C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.846G>A	11.37:g.792041C>T						SLC25A22_ENST00000531214.1_Silent_p.S282S	p.S282S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1327	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	282					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000320230.5	37	c.846G>A	CCDS7715.1																																																																																				0.697	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			12	57	0	0	0	1	0	12	57				
ZNF37A	7587	broad.mit.edu	37	10	38407455	38407455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38407455G>A	ENST00000361085.5	+	7	1721	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R459K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACATCTGAGAAGACACACA	0.403																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1375-1377)aGa>aAa		zinc finger protein 37A							51.0	54.0	53.0					10																	38407455		2203	4298	6501	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407455G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1376G>A	10.37:g.38407455G>A	ENSP00000354377:p.Arg459Lys					ZNF37A_ENST00000361085.4_Missense_Mutation_p.R459K	p.R459K	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	2206	+			459					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1376G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954269	0.53293	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18338	2.22;2.22	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28566	0.0707	L	0.39326	1.205	0.25192	N	0.990129	D	0.71674	0.998	D	0.68483	0.958	T	0.05818	-1.0862	9	0.45353	T	0.12	.	10.0958	0.42475	0.0:0.0:1.0:0.0	.	459	P17032	ZN37A_HUMAN	K	459	ENSP00000329141:R459K;ENSP00000354377:R459K	ENSP00000329141:R459K	R	+	2	0	ZNF37A	38447461	0.003000	0.15002	0.998000	0.56505	0.984000	0.73092	1.232000	0.32636	1.246000	0.43901	0.591000	0.81541	AGA		0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		51	241	0	0	0	1	0	51	241				
PDE3A	5139	broad.mit.edu	37	12	20769306	20769306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20769306C>T	ENST00000359062.3	+	4	1452	c.1412C>T	c.(1411-1413)gCa>gTa	p.A471V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	471					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGCAGGAAGCACCTTCATCC	0.512																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1411-1413)gCa>gTa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						105.0	90.0	95.0					12																	20769306		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769306C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1412C>T	12.37:g.20769306C>T	ENSP00000351957:p.Ala471Val					PDE3A_ENST00000544307.1_3'UTR	p.A471V	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			4	1452	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	471					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1412C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495797	0.12762	.	.	ENSG00000172572	ENST00000359062	T	0.53640	0.61	5.26	4.3	0.51218	.	14.108600	0.00166	N	0.000000	T	0.40595	0.1123	L	0.38838	1.175	0.09310	N	1	P	0.46064	0.872	B	0.34418	0.182	T	0.48670	-0.9015	10	0.17832	T	0.49	.	15.6368	0.76961	0.0:0.8625:0.1375:0.0	.	471	Q14432	PDE3A_HUMAN	V	471	ENSP00000351957:A471V	ENSP00000351957:A471V	A	+	2	0	PDE3A	20660573	0.082000	0.21442	0.990000	0.47175	0.048000	0.14542	3.375000	0.52410	2.616000	0.88540	0.655000	0.94253	GCA		0.512	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			74	334	0	0	0	1	0	74	334				
CHD5	26038	broad.mit.edu	37	1	6190296	6190296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6190296C>T	ENST00000262450.3	-	22	3454	c.3355G>A	c.(3355-3357)Gac>Aac	p.D1119N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGTCCGAGTCGTAGATGATG	0.642																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(3355-3357)Gac>Aac		chromodomain helicase DNA binding protein 5							113.0	99.0	103.0					1																	6190296		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6190296C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3355G>A	1.37:g.6190296C>T	ENSP00000262450:p.Asp1119Asn					CHD5_ENST00000378021.1_5'UTR	p.D1119N	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	22	3454	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1119			Helicase C-terminal.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3355G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447517	0.96205	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.81330	-1.48	4.81	4.81	0.61882	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.93648	0.7971	H	0.97365	3.99	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96007	0.8998	10	0.87932	D	0	-40.3082	18.2593	0.90030	0.0:1.0:0.0:0.0	.	1119	Q8TDI0	CHD5_HUMAN	N	1119;635;527;527	ENSP00000262450:D1119N	ENSP00000262450:D1119N	D	-	1	0	CHD5	6112883	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	7.699000	0.84547	2.380000	0.81148	0.561000	0.74099	GAC		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		36	357	0	0	0	1	0	36	357				
CITED2	10370	broad.mit.edu	37	6	139694740	139694740	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139694740C>T	ENST00000367651.2	-	2	557	c.342G>A	c.(340-342)atG>atA	p.M114I	CITED2_ENST00000537332.1_Missense_Mutation_p.M114I|CITED2_ENST00000536159.1_Missense_Mutation_p.M114I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	114					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TCTGCAGCTGCATGCTGGCCG	0.642																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2																			0				large_intestine(1)|lung(4)	5						c.(340-342)atG>atA		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							93.0	104.0	100.0					6																	139694740		2203	4300	6503	SO:0001583	missense	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694740C>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.342G>A	6.37:g.139694740C>T	ENSP00000356623:p.Met114Ile					CITED2_ENST00000536159.1_Missense_Mutation_p.M114I|CITED2_ENST00000537332.1_Missense_Mutation_p.M114I	p.M114I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	557	-	Breast(32;0.226)		114					O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	c.342G>A	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400326	0.42613	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.69685	-0.42;-0.42;-0.42	5.18	5.18	0.71444	.	0.121048	0.51477	D	0.000081	T	0.59335	0.2186	M	0.62723	1.935	0.80722	D	1	P	0.48162	0.906	B	0.43575	0.424	T	0.62595	-0.6821	9	.	.	.	-3.6977	18.6953	0.91599	0.0:1.0:0.0:0.0	.	114	Q99967	CITE2_HUMAN	I	114	ENSP00000356623:M114I;ENSP00000442831:M114I;ENSP00000444198:M114I	.	M	-	3	0	CITED2	139736433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.878000	0.75567	2.431000	0.82371	0.462000	0.41574	ATG		0.642	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			72	291	0	0	0	1	0	72	291				
PLCL2	23228	broad.mit.edu	37	3	17052328	17052328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17052328G>A	ENST00000418129.2	+	2	1577	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	497					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATAGTTTTCCGCAGTGTCATT	0.398																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(1111-1113)cGc>cAc		phospholipase C-like 2							106.0	97.0	100.0					3																	17052328		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052328G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1112G>A	3.37:g.17052328G>A	ENSP00000409637:p.Arg371His					PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H|PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000460467.1_Intron	p.R371H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1577	+			497					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1112G>A	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702685|2.702685	0.48307|0.48307	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.66280	.|-0.2;-0.2;-0.2	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.047783	.|0.85682	.|D	.|0.000000	T|T	0.60287|0.60287	0.2257|0.2257	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.38455	.|0.632	.|B	.|0.34779	.|0.189	T|T	0.63629|0.63629	-0.6594|-0.6594	4|9	.|0.66056	.|D	.|0.02	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|497	.|Q9UPR0	.|PLCL2_HUMAN	T|H	115|371;498;371;371	.|ENSP00000409637:R371H;ENSP00000379979:R371H;ENSP00000412836:R371H	.|ENSP00000285094:R498H	A|R	+|+	1|2	0|0	PLCL2|PLCL2	17027332|17027332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	8.062000|8.062000	0.89475|0.89475	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.398	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			70	321	0	0	0	1	0	70	321				
ARHGAP6	395	broad.mit.edu	37	X	11160378	11160378	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11160378G>A	ENST00000337414.4	-	12	3104	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	ARHGAP6_ENST00000380736.1_Silent_p.S541S|ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000534860.1_Silent_p.S569S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	744					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.S744S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTTGGATCCGCTTTTTAATG	0.303													G|||	1	0.000264901	0.0	0.0	3775	,	,		12406	0.0		0.0	False		,,,				2504	0.001					ENST00000337414.4																			1	Substitution - coding silent(1)	p.S744S(1)	large_intestine(1)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2230-2232)agC>agT		Rho GTPase activating protein 6							104.0	102.0	103.0					X																	11160378		2203	4300	6503	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11160378G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2232C>T	X.37:g.11160378G>A						ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000534860.1_Silent_p.S569S|ARHGAP6_ENST00000380736.1_Silent_p.S541S	p.S744S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			12	3104	-			744					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.2232C>T	CCDS14140.1																																																																																				0.303	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		76	298	0	0	0	1	0	76	298				
TTLL11	158135	broad.mit.edu	37	9	124751937	124751937	+	Missense_Mutation	SNP	C	C	T	rs375201152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124751937C>T	ENST00000373776.3	-	4	1263	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	TTLL11_ENST00000321582.5_Missense_Mutation_p.R359H|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	359	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCCTGCCAGGCGGATGTCACT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19437	0.0		0.0	False		,,,				2504	0.0					ENST00000321582.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(1075-1077)cGc>cAc		tubulin tyrosine ligase-like family, member 11		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	101.0	99.0		1076,1076	5.1	1.0	9		99	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TTLL11	NM_001139442.1,NM_194252.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	359/801,359/539	124751937	3,13003	2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751937C>T	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1076G>A	9.37:g.124751937C>T	ENSP00000362881:p.Arg359His					TTLL11_ENST00000373776.3_Missense_Mutation_p.R359H|TTLL11_ENST00000474723.1_5'UTR	p.R359H	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN			4	1263	-			359			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1076G>A	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037292	0.75617	2.27E-4	2.33E-4	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05513	3.43;3.43	5.12	5.12	0.69794	.	0.073650	0.50627	D	0.000112	T	0.11495	0.0280	L	0.51422	1.61	0.53688	D	0.999979	P;P	0.49090	0.868;0.919	B;P	0.45681	0.294;0.49	T	0.01743	-1.1283	10	0.51188	T	0.08	.	17.5595	0.87902	0.0:1.0:0.0:0.0	.	359;359	F8W6M1;Q8NHH1	.;TTL11_HUMAN	H	359	ENSP00000321346:R359H;ENSP00000362881:R359H	ENSP00000321346:R359H	R	-	2	0	TTLL11	123791758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.584000	0.60971	2.391000	0.81399	0.555000	0.69702	CGC		0.517	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		112	543	0	0	0	1	0	112	543				
SVIL	6840	broad.mit.edu	37	10	29769596	29769596	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29769596G>A	ENST00000355867.4	-	29	5999	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000538146.1_Silent_p.I541I|SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000375400.3_Silent_p.I1323I|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Silent_p.I1749I|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1749					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACGCTGGTGATCTCAAACT	0.582																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5245-5247)atC>atT		supervillin							136.0	117.0	124.0					10																	29769596		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29769596G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5247C>T	10.37:g.29769596G>A						SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000538146.1_Silent_p.I541I|SVIL_ENST00000355867.4_Silent_p.I1749I|SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000375400.3_Silent_p.I1323I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	p.I1749I			O95425	SVIL_HUMAN			31	5696	-		Breast(68;0.103)	1749					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.5247C>T	CCDS7164.1																																																																																				0.582	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			97	439	0	0	0	1	0	97	439				
IQCG	84223	broad.mit.edu	37	3	197665544	197665544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665544C>T	ENST00000265239.6	-	5	814	c.390G>A	c.(388-390)ttG>ttA	p.L130L	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.L130L|IQCG_ENST00000453254.1_Silent_p.L130L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	130						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGATTTCTGGCAAGTTGGGTC	0.433																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(388-390)ttG>ttA		IQ motif containing G							258.0	265.0	263.0					3																	197665544		2203	4300	6503	SO:0001819	synonymous_variant	84223							g.chr3:197665544C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.390G>A	3.37:g.197665544C>T						IQCG_ENST00000455191.1_Silent_p.L130L|IQCG_ENST00000453254.1_Silent_p.L130L|IQCG_ENST00000480302.1_5'UTR	p.L130L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	814	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		130					Q9BST2|Q9HAG8	Silent	SNP	ENST00000265239.6	37	c.390G>A	CCDS3331.1																																																																																				0.433	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		281	1361	0	0	0	1	0	281	1361				
AASS	10157	broad.mit.edu	37	7	121753177	121753177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121753177C>A	ENST00000393376.1	-	10	1368	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Nonsense_Mutation_p.E425*			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	425	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTTACCATTTCTTCAACATAA	0.398																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(1273-1275)Gaa>Taa		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						98.0	84.0	89.0					7																	121753177		2203	4300	6503	SO:0001587	stop_gained	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121753177C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1273G>T	7.37:g.121753177C>A	ENSP00000377040:p.Glu425*					AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Nonsense_Mutation_p.E425*	p.E425*			Q9UDR5	AASS_HUMAN			10	1368	-			425			Lysine-ketoglutarate reductase.		O95462	Nonsense_Mutation	SNP	ENST00000393376.1	37	c.1273G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	38	7.109776	0.98070	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.38	5.38	0.77491	.	0.046196	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-23.8767	19.4992	0.95086	0.0:1.0:0.0:0.0	.	.	.	.	X	425	.	ENSP00000351834:E425X	E	-	1	0	AASS	121540413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.959000	0.70339	2.689000	0.91719	0.655000	0.94253	GAA		0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		7	171	1	0	0.248553	1	0.24873	7	171				
NCOA3	8202	broad.mit.edu	37	20	46262300	46262300	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46262300A>T	ENST00000371998.3	+	9	1075	c.884A>T	c.(883-885)gAt>gTt	p.D295V	NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000372004.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	295					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGCTTTGAAGATATAATCCGA	0.368																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(883-885)gAt>gTt		nuclear receptor coactivator 3							94.0	99.0	97.0					20																	46262300		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46262300A>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.884A>T	20.37:g.46262300A>T	ENSP00000361066:p.Asp295Val					NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000371998.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V	p.D295V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			9	1100	+			295					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.884A>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522593	0.85600	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.997;0.997;0.998;0.997	D;D;D;D;D;D	0.97110	0.961;1.0;0.943;0.943;0.974;0.943	T	0.58891	-0.7556	10	0.87932	D	0	-28.1386	15.4236	0.75035	1.0:0.0:0.0:0.0	.	295;295;299;295;295;295	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	V	295;295;295;295;295;61	ENSP00000342123:D295V;ENSP00000361073:D295V;ENSP00000361066:D295V;ENSP00000361065:D295V	ENSP00000345671:D295V	D	+	2	0	NCOA3	45695707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.046000	0.60703	0.533000	0.62120	GAT		0.368	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		102	367	0	0	0	1	0	102	367				
OTOA	146183	broad.mit.edu	37	16	21721387	21721387	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21721387T>C	ENST00000286149.4	+	12	1326	c.1325T>C	c.(1324-1326)gTc>gCc	p.V442A	OTOA_ENST00000388958.3_Missense_Mutation_p.V428A|OTOA_ENST00000388957.3_Missense_Mutation_p.V104A|OTOA_ENST00000388956.4_Missense_Mutation_p.V349A			Q7RTW8	OTOAN_HUMAN	otoancorin	442					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGAGCCAGGTCATCATCTTG	0.512																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1282-1284)gTc>gCc		otoancorin							69.0	58.0	62.0					16																	21721387		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21721387T>C	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1325T>C	16.37:g.21721387T>C	ENSP00000286149:p.Val442Ala					OTOA_ENST00000388956.4_Missense_Mutation_p.V349A|OTOA_ENST00000286149.4_Missense_Mutation_p.V442A|OTOA_ENST00000388957.3_Missense_Mutation_p.V104A	p.V428A	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1284	+			442					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1283T>C		.	.	.	.	.	.	.	.	.	.	T	9.963	1.223292	0.22457	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.21	1.68	0.24146	.	0.662679	0.14853	N	0.294589	T	0.67571	0.2907	L	0.50333	1.59	0.24453	N	0.994475	B;B;B;B	0.13594	0.008;0.008;0.002;0.008	B;B;B;B	0.15052	0.012;0.012;0.003;0.012	T	0.50890	-0.8774	10	0.19147	T	0.46	-2.4377	8.0775	0.30724	0.0:0.2387:0.0:0.7613	.	442;349;104;428	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	A	428;442;349;104	ENSP00000373610:V428A;ENSP00000286149:V442A;ENSP00000373608:V349A;ENSP00000373609:V104A	ENSP00000286149:V442A	V	+	2	0	OTOA	21628888	0.203000	0.23435	0.684000	0.30055	0.998000	0.95712	0.413000	0.21148	0.004000	0.14682	0.523000	0.50628	GTC		0.512	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			6	152	0	0	0	1	0	6	152				
PRICKLE2	166336	broad.mit.edu	37	3	64085074	64085074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085074G>A	ENST00000295902.6	-	8	2773	c.2188C>T	c.(2188-2190)Cgg>Tgg	p.R730W	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786W	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	730	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGAAGCTCCGCTGGCGCATA	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2188-2190)Cgg>Tgg		prickle homolog 2 (Drosophila)							45.0	49.0	47.0					3																	64085074		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085074G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2188C>T	3.37:g.64085074G>A	ENSP00000295902:p.Arg730Trp					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786W	p.R730W	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2773	-		Lung NSC(201;0.136)	730			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2188C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773414	0.69992	.	.	ENSG00000163637	ENST00000295902	D	0.86627	-2.15	5.33	4.33	0.51752	.	0.000000	0.64402	D	0.000001	D	0.86142	0.5862	L	0.59436	1.845	0.58432	D	0.999996	D	0.71674	0.998	P	0.47528	0.549	D	0.87301	0.2305	10	0.87932	D	0	-39.0594	11.0923	0.48123	0.0:0.0:0.6028:0.3972	.	730	Q7Z3G6	PRIC2_HUMAN	W	730	ENSP00000295902:R730W	ENSP00000295902:R730W	R	-	1	2	PRICKLE2	64060114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.507000	0.53371	2.651000	0.90000	0.591000	0.81541	CGG		0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		82	323	0	0	0	1	0	82	323				
CNTLN	54875	broad.mit.edu	37	9	17466758	17466758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17466758G>T	ENST00000380647.3	+	23	3808	c.3724G>T	c.(3724-3726)Gca>Tca	p.A1242S	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1242					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATCTGCAATGGCAGAAATTGA	0.378																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3724-3726)Gca>Tca		centlein, centrosomal protein							81.0	74.0	76.0					9																	17466758		1865	4100	5965	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17466758G>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3724G>T	9.37:g.17466758G>T	ENSP00000370021:p.Ala1242Ser					CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S	p.A1242S			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	23	3808	+			1242					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3724G>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077479	0.36662	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18960	2.18;2.18;2.43	5.32	3.14	0.36123	.	.	.	.	.	T	0.19644	0.0472	L	0.48642	1.525	0.25935	N	0.982942	P;B;B	0.47191	0.891;0.211;0.211	P;B;B	0.47299	0.543;0.13;0.13	T	0.05194	-1.0900	9	0.11485	T	0.65	.	6.0083	0.19559	0.2483:0.0:0.6027:0.149	.	1242;1242;1242	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	S	1242	ENSP00000370021:A1242S;ENSP00000392798:A1242S;ENSP00000262360:A1242S	ENSP00000262360:A1242S	A	+	1	0	CNTLN	17456758	0.997000	0.39634	1.000000	0.80357	0.911000	0.54048	0.348000	0.20031	1.245000	0.43885	-0.145000	0.13849	GCA		0.378	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		26	186	1	0	3.28513e-13	1	3.54196e-13	26	186				
FRMPD1	22844	broad.mit.edu	37	9	37744962	37744962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744962G>A	ENST00000539465.1	+	16	3526	c.2933G>A	c.(2932-2934)gGc>gAc	p.G978D	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	978						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGTTCATCTGGCCCAGATACT	0.522																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2932-2934)gGc>gAc		FERM and PDZ domain containing 1							109.0	107.0	108.0					9																	37744962		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744962G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2933G>A	9.37:g.37744962G>A	ENSP00000444411:p.Gly978Asp					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D	p.G978D			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3526	+			978					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2933G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806782	0.50421	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06449	3.3;3.3	5.17	-0.546	0.11840	.	0.984665	0.08339	N	0.961171	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.41135	0.348	T	0.45789	-0.9237	10	0.30078	T	0.28	-4.4383	8.542	0.33399	0.4994:0.0:0.5006:0.0	.	978	Q5SYB0	FRPD1_HUMAN	D	978	ENSP00000366995:G978D;ENSP00000444411:G978D	ENSP00000366995:G978D	G	+	2	0	FRMPD1	37734962	0.000000	0.05858	0.007000	0.13788	0.501000	0.33797	-0.111000	0.10807	-0.025000	0.13918	0.462000	0.41574	GGC		0.522	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		131	534	0	0	0	1	0	131	534				
CACNA1C	775	broad.mit.edu	37	12	2797893	2797893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2797893C>A	ENST00000347598.4	+	48	6209	c.6209C>A	c.(6208-6210)gCt>gAt	p.A2070D	CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A2022D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2105					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCAGCCAGGCTGGGGCCCCA	0.721																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(6064-6066)gCt>gAt		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						9.0	12.0	11.0					12																	2797893		1931	4095	6026	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797893C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6209C>A	12.37:g.2797893C>A	ENSP00000266376:p.Ala2070Asp					CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2070D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D	p.A2022D	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6330	+			2105					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6065C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615424	0.28801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.21	5.21	0.72293	.	0.164115	0.39475	N	0.001360	T	0.44008	0.1273	N	0.25647	0.755	0.25660	N	0.986018	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.40834	0.286;0.73;0.145;0.286;0.374;0.374;0.178;0.21;0.026;0.003;0.321;0.145;0.302;0.404;0.09;0.078;0.302;0.127;0.515;0.127;0.178;0.127;0.321;0.145;0.145	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39419	0.042;0.299;0.036;0.066;0.156;0.156;0.107;0.156;0.062;0.012;0.156;0.023;0.109;0.156;0.016;0.075;0.109;0.139;0.156;0.139;0.073;0.139;0.156;0.079;0.036	T	0.38908	-0.9639	10	0.35671	T	0.21	.	18.7594	0.91845	0.0:1.0:0.0:0.0	.	713;2063;2019;2105;2057;2041;2022;2039;2050;2022;2042;2022;2053;2070;2022;2057;2093;2030;2028;2030;2011;2041;2041;2022;2022	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	2047;2022;2022;2050;2022;2041;2041;2030;2022;2070;2042;2022;2063;2039;2057;2028;2041;2022;2093;2057;2093;2030;1923	ENSP00000336982:A2047D;ENSP00000382563:A2022D;ENSP00000382552:A2022D;ENSP00000382547:A2050D;ENSP00000382506:A2022D;ENSP00000382530:A2041D;ENSP00000382546:A2041D;ENSP00000382500:A2030D;ENSP00000382549:A2022D;ENSP00000266376:A2070D;ENSP00000382515:A2042D;ENSP00000382510:A2022D;ENSP00000341092:A2063D;ENSP00000382537:A2039D;ENSP00000329877:A2057D;ENSP00000382557:A2028D;ENSP00000385724:A2041D;ENSP00000382512:A2022D;ENSP00000382542:A2093D;ENSP00000382526:A2057D;ENSP00000385896:A2093D;ENSP00000382504:A2030D	ENSP00000323129:A1923D	A	+	2	0	CACNA1C	2668154	0.001000	0.12720	0.955000	0.39395	0.197000	0.23852	0.340000	0.19892	2.428000	0.82296	0.462000	0.41574	GCT		0.721	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		21	92	1	0	0.000132079	1	0.000134276	21	92				
ST6GALNAC1	55808	broad.mit.edu	37	17	74621580	74621580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74621580G>A	ENST00000156626.7	-	9	1834	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	545					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCGCTCATGGCCCTCAGTGA	0.483																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1633-1635)ggC>ggT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							65.0	62.0	63.0					17																	74621580		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74621580G>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1635C>T	17.37:g.74621580G>A							p.G545G	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			9	1834	-			545					Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.1635C>T	CCDS11748.1																																																																																				0.483	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		45	202	0	0	0	1	0	45	202				
HERC2P9	440248	broad.mit.edu	37	15	28900733	28900733	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28900733C>T	ENST00000528584.1	+	0	162					NR_036443.1				hect domain and RLD 2 pseudogene 9																		GGCACTGCTGCACACGCTGCA	0.622																																						ENST00000528584.1																			0																																																			0							g.chr15:28900733C>T	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900733C>T								NR_036443.1						0	162	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.622	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		8	383	0	0	0	1	0	8	383				
LRRC47	57470	broad.mit.edu	37	1	3703686	3703686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3703686G>A	ENST00000378251.1	-	2	831	c.804C>T	c.(802-804)ggC>ggT	p.G268G	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	268							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACGGCCCTTGCCCTTCCCGC	0.657																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(802-804)ggC>ggT		leucine rich repeat containing 47							87.0	64.0	72.0					1																	3703686		2203	4300	6503	SO:0001819	synonymous_variant	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3703686G>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.804C>T	1.37:g.3703686G>A							p.G268G	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	2	831	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	268					Q9ULN5	Silent	SNP	ENST00000378251.1	37	c.804C>T	CCDS51.1																																																																																				0.657	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		37	284	0	0	0	1	0	37	284				
FBXL4	26235	broad.mit.edu	37	6	99347219	99347219	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347219T>C	ENST00000369244.2	-	7	1670	c.1242A>G	c.(1240-1242)ctA>ctG	p.L414L	FBXL4_ENST00000229971.1_Silent_p.L414L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	414					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTTGAGGTGGTAGCTTATCAC	0.383																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1240-1242)ctA>ctG		F-box and leucine-rich repeat protein 4							168.0	151.0	156.0					6																	99347219		2203	4300	6503	SO:0001819	synonymous_variant	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99347219T>C	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1242A>G	6.37:g.99347219T>C						FBXL4_ENST00000229971.1_Silent_p.L414L	p.L414L			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	7	1670	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	414					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	37	c.1242A>G	CCDS5041.1																																																																																				0.383	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			109	507	0	0	0	1	0	109	507				
MYB	4602	broad.mit.edu	37	6	135518382	135518382	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518382G>T	ENST00000367814.4	+	9	1389				MYB_ENST00000442647.2_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.S480I|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.S493I|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000531845.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000341911.5_Missense_Mutation_p.S496I|MYB_ENST00000316528.8_Intron|MYB_ENST00000527615.1_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGAGACTGTAGCTCCTTCATA	0.532			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1486-1488)aGc>aTc		v-myb avian myeloblastosis viral oncogene homolog							74.0	70.0	71.0					6																	135518382		1568	3582	5150	SO:0001627	intron_variant	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135518382G>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1203+1242G>T	6.37:g.135518382G>T						MYB_ENST00000531845.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.S480I|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.S493I	p.S496I	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	10	1686	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	449					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1487G>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839625	0.51057	.	.	ENSG00000118513	ENST00000341911;ENST00000528774;ENST00000534121	T;T;T	0.13538	2.58;2.58;2.58	5.78	3.98	0.46160	.	0.238779	0.48767	D	0.000176	T	0.06371	0.0164	L	0.38175	1.15	0.58432	D	0.999993	P;P;P	0.41569	0.612;0.472;0.755	B;B;B	0.41813	0.188;0.189;0.367	T	0.17440	-1.0369	10	0.48119	T	0.1	-0.9723	11.033	0.47785	0.2008:0.0:0.7992:0.0	.	493;480;496	E9PNL6;E9PNA4;P10242-4	.;.;.	I	496;493;480	ENSP00000339992:S496I;ENSP00000434723:S493I;ENSP00000432851:S480I	ENSP00000339992:S496I	S	+	2	0	MYB	135560075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.749000	0.47492	1.457000	0.47850	0.655000	0.94253	AGC		0.532	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			43	255	1	0	1.32136e-16	1	1.45297e-16	43	255				
C19orf44	84167	broad.mit.edu	37	19	16617541	16617541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16617541G>A	ENST00000221671.3	+	4	1261	c.1105G>A	c.(1105-1107)Ggt>Agt	p.G369S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G369S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	369										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ATCGCTTGACGGTCTGGCTCC	0.323																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(1105-1107)Ggt>Agt		chromosome 19 open reading frame 44							45.0	49.0	48.0					19																	16617541		2202	4299	6501	SO:0001583	missense	84167							g.chr19:16617541G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1105G>A	19.37:g.16617541G>A	ENSP00000221671:p.Gly369Ser					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G369S	p.G369S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			4	1261	+			369					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1105G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.543953	0.27563	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.18	2.01	0.26516	.	0.236450	0.31495	N	0.007554	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.0;0.0;0.008	B;B;B	0.01281	0.0;0.0;0.0	T	0.17349	-1.0372	9	0.66056	D	0.02	-11.7623	7.131	0.25502	0.096:0.1721:0.7319:0.0	.	369;42;369	Q9H6X5;B4DN63;Q9H6X5-2	CS044_HUMAN;.;.	S	369	.	ENSP00000221671:G369S	G	+	1	0	C19orf44	16478541	0.846000	0.29590	0.000000	0.03702	0.000000	0.00434	2.051000	0.41307	0.360000	0.24265	-1.058000	0.02302	GGT		0.323	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		12	144	0	0	0	1	0	12	144				
WASH6P	653440	broad.mit.edu	37	X	155255098	155255098	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:155255098C>T	ENST00000461007.1	+	0	4014				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CTGACATGGACACAGCCAGGA	0.622																																						ENST00000285718.7																			0																																																			0							g.chrX:155255098C>T	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255098C>T						WASH6P_ENST00000461007.1_RNA								0	1403	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.622	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		14	62	0	0	0	1	0	14	62				
NCAPH	23397	broad.mit.edu	37	2	97026333	97026333	+	Missense_Mutation	SNP	C	C	T	rs372669126		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97026333C>T	ENST00000240423.4	+	12	1515	c.1472C>T	c.(1471-1473)aCt>aTt	p.T491I	NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I|NCAPH_ENST00000455200.1_Missense_Mutation_p.T480I	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	491					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TAGGCTGCTACTATTCTGACC	0.403																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1438-1440)aCt>aTt		non-SMC condensin I complex, subunit H							120.0	122.0	122.0					2																	97026333		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97026333C>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1472C>T	2.37:g.97026333C>T	ENSP00000240423:p.Thr491Ile					NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I|NCAPH_ENST00000240423.4_Missense_Mutation_p.T491I	p.T480I			Q15003	CND2_HUMAN			12	1734	+		Ovarian(717;0.0221)	491					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1439C>T	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434742	0.62955	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.3	4.42	0.53409	.	0.046684	0.85682	N	0.000000	T	0.59622	0.2207	M	0.72479	2.2	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77004	0.987;0.989;0.973	T	0.57476	-0.7805	10	0.23891	T	0.37	-12.9561	12.2103	0.54375	0.0:0.9161:0.0:0.0839	.	467;480;491	B4DRG7;E9PHA2;Q15003	.;.;CND2_HUMAN	I	491;355;480;480	ENSP00000240423:T491I;ENSP00000400774:T355I;ENSP00000405237:T480I;ENSP00000407308:T480I	ENSP00000240423:T491I	T	+	2	0	NCAPH	96390060	1.000000	0.71417	0.926000	0.36857	0.896000	0.52359	3.934000	0.56553	1.373000	0.46208	-0.150000	0.13652	ACT		0.403	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		194	596	0	0	0	1	0	194	596				
PRAMEF10	343071	broad.mit.edu	37	1	12954533	12954533	+	Silent	SNP	G	G	A	rs75427689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12954533G>A	ENST00000235347.4	-	3	829	c.750C>T	c.(748-750)agC>agT	p.S250S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	250					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACTGGACGCTCACGTACA	0.463													g|||	17	0.00339457	0.0129	0.0	5008	,	,		25293	0.0		0.0	False		,,,				2504	0.0					ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(748-750)agC>agT		PRAME family member 10		G		36,3948		0,36,1956	260.0	186.0	210.0		750	-0.0	0.0	1	dbSNP_131	210	0,8252		0,0,4126	no	coding-synonymous	PRAMEF10	NM_001039361.3		0,36,6082	AA,AG,GG		0.0,0.9036,0.2942		250/475	12954533	36,12200	1992	4126	6118	SO:0001819	synonymous_variant	343071							g.chr1:12954533G>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.750C>T	1.37:g.12954533G>A							p.S250S	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	829	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	250					Q2M1V2	Silent	SNP	ENST00000235347.4	37	c.750C>T	CCDS41255.1																																																																																				0.463	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		46	1467	0	0	0	1	0	46	1467				
CACNA1C	775	broad.mit.edu	37	12	2788897	2788897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2788897C>T	ENST00000347598.4	+	44	5523	c.5523C>T	c.(5521-5523)ggC>ggT	p.G1841G	CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000406454.3_Silent_p.G1793G|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C_ENST00000399655.1_Silent_p.G1793G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000399638.1_Silent_p.G1821G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000402845.3_Silent_p.G1812G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1841					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTGGAGGGCCACGGGCCCC	0.692																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(5377-5379)ggC>ggT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						34.0	39.0	37.0					12																	2788897		2023	4179	6202	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2788897C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5523C>T	12.37:g.2788897C>T						CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000402845.3_Silent_p.G1812G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C_ENST00000347598.4_Silent_p.G1841G|CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C_ENST00000406454.3_Silent_p.G1793G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000399638.1_Silent_p.G1821G	p.G1793G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	42	5644	+			1841					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.5379C>T	CCDS44788.1																																																																																				0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		11	58	0	0	0	1	0	11	58				
KANSL1	284058	broad.mit.edu	37	17	44248620	44248620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44248620C>T	ENST00000262419.6	-	2	1360	c.890G>A	c.(889-891)cGt>cAt	p.R297H	KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000574590.1_Missense_Mutation_p.R297H|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Missense_Mutation_p.R297H|KANSL1_ENST00000572904.1_Missense_Mutation_p.R297H|KANSL1_ENST00000575318.1_Missense_Mutation_p.R297H	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	297					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCTGCGGGCACGGCTCTCAAT	0.478																																						ENST00000393476.3																			0													KAT8 regulatory NSL complex subunit 1							61.0	73.0	69.0					17																	44248620		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44248620C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.890G>A	17.37:g.44248620C>T	ENSP00000262419:p.Arg297His					KANSL1_ENST00000432791.1_Missense_Mutation_p.R297H|KANSL1_ENST00000575318.1_Missense_Mutation_p.R297H|KANSL1_ENST00000574590.1_Missense_Mutation_p.R297H|KANSL1_ENST00000572904.1_Missense_Mutation_p.R297H|KANSL1_ENST00000262419.6_Missense_Mutation_p.R297H				Q7Z3B3	K1267_HUMAN			0	1360	-								A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Translation_Start_Site	SNP	ENST00000262419.6	37		CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953108	0.73902	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12774	2.65;2.65	6.04	5.06	0.68205	.	0.050793	0.85682	D	0.000000	T	0.28863	0.0716	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.87578	0.729;0.998	T	0.02758	-1.1114	10	0.87932	D	0	-6.9397	15.3996	0.74827	0.1404:0.8596:0.0:0.0	.	297;297	C9JHY2;Q7Z3B3	.;K1267_HUMAN	H	297	ENSP00000262419:R297H;ENSP00000387393:R297H	ENSP00000262419:R297H	R	-	2	0	KIAA1267	41604397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.253000	0.78320	1.542000	0.49330	0.561000	0.74099	CGT		0.478	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		70	248	0	0	0	1	0	70	248				
LPP	4026	broad.mit.edu	37	3	188590548	188590548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188590548C>T	ENST00000312675.4	+	10	1953	c.1707C>T	c.(1705-1707)tgC>tgT	p.C569C	LPP_ENST00000543006.1_Silent_p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	569	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCTACCGATGCGAGGTCTGGT	0.522			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1705-1707)tgC>tgT		LIM domain containing preferred translocation partner in lipoma							92.0	70.0	77.0					3																	188590548		2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188590548C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1707C>T	3.37:g.188590548C>T						LPP_ENST00000543006.1_Silent_p.C569C	p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	10	1953	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	569			LIM zinc-binding 3.		A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.1707C>T	CCDS3291.1																																																																																				0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		53	172	0	0	0	1	0	53	172				
PRKAG3	53632	broad.mit.edu	37	2	219691782	219691782	+	Missense_Mutation	SNP	C	C	T	rs372540696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219691782C>T	ENST00000529249.1	-	10	1352	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H|PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T|PRKAG3_ENST00000439262.2_Missense_Mutation_p.R321H			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	346					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TTGGATAGTGCGGTAGAGGAA	0.597																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(961-963)cGc>cAc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							107.0	110.0	109.0					2																	219691782		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691782C>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1037G>A	2.37:g.219691782C>T	ENSP00000436068:p.Arg346His					PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R346H|PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H	p.R321H	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1057	-		Renal(207;0.0474)	346			CBS 2.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.962G>A	CCDS2424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.689197|3.689197	0.68271|0.68271	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000392098|ENST00000439262;ENST00000545803;ENST00000529249	T|D;D;D	0.62232|0.91407	0.04|-2.84;-2.84;-2.84	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.102960	.|0.64402	.|D	.|0.000005	D|D	0.91153|0.91153	0.7214|0.7214	L|L	0.36672|0.36672	1.1|1.1	0.23798|0.23798	N|N	0.996819|0.996819	.|D	.|0.89917	.|1.0	.|D	.|0.67382	.|0.951	D|D	0.84430|0.84430	0.0576|0.0576	7|10	0.87932|0.66056	D|D	0|0.02	-12.6988|-12.6988	8.475|8.475	0.33007|0.33007	0.0:0.8359:0.0:0.1641|0.0:0.8359:0.0:0.1641	.|.	.|346	.|Q9UGI9	.|AAKG3_HUMAN	T|H	331|321;162;346	ENSP00000375947:A331T|ENSP00000397133:R321H;ENSP00000444536:R162H;ENSP00000436068:R346H	ENSP00000375947:A331T|ENSP00000233944:R346H	A|R	-|-	1|2	0|0	PRKAG3|PRKAG3	219400026|219400026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.096000|2.096000	0.41738|0.41738	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.597	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			27	955	0	0	0	1	0	27	955				
LENG8	114823	broad.mit.edu	37	19	54965677	54965677	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54965677G>T	ENST00000326764.5	+	6	974	c.495G>T	c.(493-495)caG>caT	p.Q165H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	128										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGTCGGCTCAGCCCCCTCAGC	0.682																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(493-495)caG>caT		leukocyte receptor cluster (LRC) member 8							28.0	30.0	29.0					19																	54965677		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54965677G>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.495G>T	19.37:g.54965677G>T	ENSP00000318374:p.Gln165His					LENG8_ENST00000376514.2_Intron	p.Q165H	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	6	974	+	Ovarian(34;0.19)		128					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.495G>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118360	0.56505	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.48201	1.39;0.82;1.42;1.35	5.23	3.05	0.35203	.	0.363370	0.28671	N	0.014526	T	0.43500	0.1250	L	0.51422	1.61	0.80722	D	1	P;P	0.48503	0.911;0.627	P;B	0.47981	0.563;0.098	T	0.24225	-1.0166	10	0.14656	T	0.56	-30.3481	9.66	0.39950	0.1731:0.0:0.8269:0.0	.	165;128	Q96PV6-2;F8W9Q9	.;.	H	165;128;165;128;165	ENSP00000318374:Q165H;ENSP00000399507:Q165H;ENSP00000365709:Q128H;ENSP00000388053:Q165H	ENSP00000301196:Q128H	Q	+	3	2	LENG8	59657489	0.995000	0.38212	1.000000	0.80357	0.692000	0.40212	0.414000	0.21164	1.314000	0.45095	0.655000	0.94253	CAG		0.682	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		42	203	1	0	5.78141e-17	1	6.36782e-17	42	203				
NEIL2	252969	broad.mit.edu	37	8	11643740	11643740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11643740G>A	ENST00000284503.6	+	5	1556	c.957G>A	c.(955-957)caG>caA	p.Q319Q	NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q|NEIL2_ENST00000528323.1_Silent_p.Q203Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	319					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CGCAGTGCCAGCCCCAGTTGT	0.602								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(955-957)caG>caA	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)							21.0	20.0	21.0					8																	11643740		2195	4290	6485	SO:0001819	synonymous_variant	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11643740G>A	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.957G>A	8.37:g.11643740G>A						NEIL2_ENST00000528323.1_Silent_p.Q203Q|NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q	p.Q319Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	5	1556	+	all_epithelial(15;0.103)		319					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	c.957G>A	CCDS5984.1																																																																																				0.602	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		8	180	0	0	0	1	0	8	180				
NR4A3	8013	broad.mit.edu	37	9	102590550	102590550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102590550G>A	ENST00000395097.2	+	3	955	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	NR4A3_ENST00000330847.1_Missense_Mutation_p.V87M|NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	76					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCTTCCTGCGTGTACCAAAT	0.602			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(259-261)Gtg>Atg		nuclear receptor subfamily 4, group A, member 3							95.0	80.0	85.0					9																	102590550		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590550G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.226G>A	9.37:g.102590550G>A	ENSP00000378531:p.Val76Met					NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M|NR4A3_ENST00000395097.2_Missense_Mutation_p.V76M	p.V87M			Q92570	NR4A3_HUMAN			2	303	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	76					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.259G>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514878	0.44763	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.76;-2.33;-2.78	5.47	2.57	0.30868	.	3.416260	0.01217	N	0.007998	T	0.81659	0.4869	N	0.08118	0	0.28909	N	0.892828	B;B;B	0.31459	0.117;0.071;0.324	B;B;B	0.23716	0.048;0.022;0.048	T	0.73503	-0.3962	10	0.72032	D	0.01	.	7.4995	0.27509	0.0:0.5911:0.2697:0.1391	.	87;76;76	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	M	76;76;87	ENSP00000378531:V76M;ENSP00000340301:V76M;ENSP00000333122:V87M	ENSP00000333122:V87M	V	+	1	0	NR4A3	101630371	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.037000	0.30241	0.341000	0.23771	-0.357000	0.07601	GTG		0.602	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			60	336	0	0	0	1	0	60	336				
NR6A1	2649	broad.mit.edu	37	9	127306128	127306128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127306128C>A	ENST00000487099.2	-	4	551	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	132					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATGCCATCTTCTCTGATAGCT	0.493																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(394-396)Gaa>Taa		nuclear receptor subfamily 6, group A, member 1							100.0	88.0	92.0					9																	127306128		2203	4300	6503	SO:0001587	stop_gained	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127306128C>A	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.394G>T	9.37:g.127306128C>A	ENSP00000420267:p.Glu132*					NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*	p.E132*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			4	551	-			132					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Nonsense_Mutation	SNP	ENST00000487099.2	37	c.394G>T	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332443	0.95733	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.7859	0.88538	0.0:1.0:0.0:0.0	.	.	.	.	X	132;128;128;132;90	.	ENSP00000341135:E132X	E	-	1	0	NR6A1	126345949	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.177000	0.77650	2.418000	0.82041	0.655000	0.94253	GAA		0.493	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			32	143	1	0	6.70999e-13	1	7.22283e-13	32	143				
AGBL4	84871	broad.mit.edu	37	1	49052677	49052677	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:49052677G>T	ENST00000371839.1	-	11	1382	c.1266C>A	c.(1264-1266)gcC>gcA	p.A422A	AGBL4_ENST00000334103.7_Splice_Site_p.A155A	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	422					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TAAGGATACAGGCTTCTTCAG	0.567																																						ENST00000371839.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.e11+1		ATP/GTP binding protein-like 4							35.0	38.0	37.0					1																	49052677		2015	4178	6193	SO:0001630	splice_region_variant	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49052677G>T	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1267+1C>A	1.37:g.49052677G>T						AGBL4_ENST00000334103.7_Splice_Site_p.A155_splice	p.A422_splice	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	11	1382	-			422					B3KT26|B4DG37	Splice_Site	SNP	ENST00000371839.1	37	c.1267_splice	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020974	0.35606	.	.	ENSG00000186094	ENST00000416121	.	.	.	5.77	3.91	0.45181	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52793	-0.8528	4	.	.	.	-4.1408	7.8083	0.29215	0.1422:0.0:0.7256:0.1322	.	.	.	.	H	268	.	.	P	-	2	0	AGBL4	48825264	0.999000	0.42202	1.000000	0.80357	0.877000	0.50540	0.334000	0.19787	0.796000	0.33947	0.448000	0.29417	CCT		0.567	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785	Silent	4	55	1	0	0.00909568	1	0.00914726	4	55				
CKAP5	9793	broad.mit.edu	37	11	46800054	46800054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46800054G>A	ENST00000529230.1	-	21	2575	c.2529C>T	c.(2527-2529)gaC>gaT	p.D843D	CKAP5_ENST00000354558.3_Silent_p.D843D|CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000415402.1_Silent_p.D843D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	843					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CATTGCTCCCGTCATCTGGTT	0.438																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2527-2529)gaC>gaT		cytoskeleton associated protein 5							260.0	217.0	231.0					11																	46800054		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46800054G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2529C>T	11.37:g.46800054G>A						CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000354558.3_Silent_p.D843D|CKAP5_ENST00000415402.1_Silent_p.D843D	p.D843D			Q14008	CKAP5_HUMAN			21	2575	-			843					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.2529C>T	CCDS31477.1																																																																																				0.438	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		118	558	0	0	0	1	0	118	558				
SFTPB	6439	broad.mit.edu	37	2	85890797	85890797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85890797G>A	ENST00000519937.2	-	7	865	c.846C>T	c.(844-846)agC>agT	p.S282S	SFTPB_ENST00000342375.3_Silent_p.S282S|SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000393822.3_Silent_p.S294S			P07988	PSPB_HUMAN	surfactant protein B	282					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TTGGGCCAGCGCTGTCATCCA	0.662																																						ENST00000393822.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(880-882)agC>agT		surfactant protein B							24.0	28.0	27.0					2																	85890797		2199	4298	6497	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85890797G>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.846C>T	2.37:g.85890797G>A						SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000519937.2_Silent_p.S282S|SFTPB_ENST00000342375.3_Silent_p.S282S	p.S294S			P07988	PSPB_HUMAN			8	981	-			282					Q96R04	Silent	SNP	ENST00000519937.2	37	c.882C>T		.	.	.	.	.	.	.	.	.	.	G	4.191	0.034165	0.08101	.	.	ENSG00000168878	ENST00000428225	.	.	.	5.24	1.4	0.22301	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	2.0E-4	4.0805	0.09924	0.2665:0.0:0.571:0.1625	.	.	.	.	C	279	.	.	R	-	1	0	SFTPB	85744308	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.400000	0.20932	-0.020000	0.14032	0.561000	0.74099	CGC		0.662	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		30	61	0	0	0	1	0	30	61				
HDAC4	9759	broad.mit.edu	37	2	240048328	240048328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240048328G>A	ENST00000345617.3	-	12	2133	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W|HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	448					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGACACCCGGTCTGCACCA	0.637																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(1342-1344)Cgg>Tgg		histone deacetylase 4							35.0	41.0	39.0					2																	240048328		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240048328G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1342C>T	2.37:g.240048328G>A	ENSP00000264606:p.Arg448Trp					HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W|HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W	p.R448W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	12	2133	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	448					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.1342C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766312	0.69878	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.69685	0.06;-0.42;1.22	4.46	3.55	0.40652	.	0.096845	0.43110	D	0.000618	T	0.80199	0.4579	M	0.78456	2.415	0.44880	D	0.99789	D;D;P;D;D;D	0.89917	0.999;1.0;0.803;1.0;0.999;0.998	D;D;B;D;P;P	0.79784	0.952;0.985;0.164;0.993;0.739;0.784	T	0.80888	-0.1181	9	.	.	.	.	12.9074	0.58160	0.0:0.0:0.6027:0.3973	.	448;331;422;422;416;448	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	W	448;336;32;422;331	ENSP00000264606:R448W;ENSP00000440481:R32W;ENSP00000443057:R422W	.	R	-	1	2	HDAC4	239713265	0.427000	0.25514	0.960000	0.40013	0.979000	0.70002	1.296000	0.33389	0.956000	0.37904	0.563000	0.77884	CGG		0.637	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		84	240	0	0	0	1	0	84	240				
ARHGEF9	23229	broad.mit.edu	37	X	62898340	62898340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:62898340C>T	ENST00000253401.6	-	5	1474	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ARHGEF9_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	225	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCAAGAGGCGACAGGCCTC	0.478																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(673-675)cGc>cAc		Cdc42 guanine nucleotide exchange factor (GEF) 9							87.0	63.0	72.0					X																	62898340		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62898340C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.674G>A	X.37:g.62898340C>T	ENSP00000253401:p.Arg225His					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H	p.R225H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			5	1474	-			225			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.674G>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930612	0.92389	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89143	0.3518	10	0.66056	D	0.02	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	172;223;225;225	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	H	225;223;172;123;204	ENSP00000253401:R225H;ENSP00000364012:R223H;ENSP00000399994:R172H;ENSP00000364004:R123H;ENSP00000364006:R204H	ENSP00000253401:R225H	R	-	2	0	ARHGEF9	62815065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.201000	0.77847	2.087000	0.62958	0.600000	0.82982	CGC		0.478	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			15	55	0	0	0	1	0	15	55				
ZFC3H1	196441	broad.mit.edu	37	12	72057309	72057309	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72057309T>G	ENST00000378743.3	-	1	440	c.82A>C	c.(82-84)Agt>Cgt	p.S28R	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	28					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGTCGTCACTGATTTCCCCA	0.647											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(82-84)Agt>Cgt		zinc finger, C3H1-type containing							90.0	105.0	100.0					12																	72057309		2090	4221	6311	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057309T>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.82A>C	12.37:g.72057309T>G	ENSP00000368017:p.Ser28Arg		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R	p.S28R	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	440	-			28					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.82A>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751945	0.49362	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.35789	1.29	4.13	4.13	0.48395	.	0.070259	0.56097	D	0.000036	T	0.38931	0.1059	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	P;P;P	0.59288	0.855;0.855;0.72	T	0.38222	-0.9671	10	0.87932	D	0	.	12.7363	0.57225	0.0:0.0:0.0:1.0	.	28;28;28	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	R	28	ENSP00000368017:S28R	ENSP00000368017:S28R	S	-	1	0	ZFC3H1	70343576	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.598000	0.54038	2.104000	0.64026	0.455000	0.32223	AGT		0.647	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		206	992	0	0	0	1	0	206	992				
EIF4G2	1982	broad.mit.edu	37	11	10823295	10823295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10823295C>T	ENST00000526148.1	-	14	1836	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	EIF4G2_ENST00000396525.2_Intron|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.Q442Q|EIF4G2_ENST00000525681.1_Silent_p.Q442Q	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.Q442H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCCCTGACTCTGGTTATGGT	0.438																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.Q442H(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1324-1326)caG>caA		eukaryotic translation initiation factor 4 gamma, 2							117.0	112.0	114.0					11																	10823295		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823295C>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1326G>A	11.37:g.10823295C>T						EIF4G2_ENST00000339995.5_Silent_p.Q442Q|EIF4G2_ENST00000525681.1_Silent_p.Q442Q|EIF4G2_ENST00000396525.2_Intron	p.Q442Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	14	1836	-			442						Silent	SNP	ENST00000526148.1	37	c.1326G>A	CCDS31428.1																																																																																				0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		73	370	0	0	0	1	0	73	370				
RNF165	494470	broad.mit.edu	37	18	44035936	44035936	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44035936G>T	ENST00000269439.7	+	7	867		c.e7-1		RNF165_ENST00000543885.1_Splice_Site	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165								zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCTTCTCATAGCGAAGACCCC	0.522																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.e7-1		ring finger protein 165							82.0	68.0	73.0					18																	44035936		2203	4299	6502	SO:0001630	splice_region_variant	494470						zinc ion binding	g.chr18:44035936G>T	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.817-1G>T	18.37:g.44035936G>T						RNF165_ENST00000543885.1_Splice_Site		NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	7	867	+								B3KVD1	Splice_Site	SNP	ENST00000269439.7	37		CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462751	0.84425	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.459	0.87615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF165	42289934	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	9.353000	0.97080	2.218000	0.71995	0.305000	0.20034	.		0.522	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470	Intron	4	90	1	0	0.00024832	1	0.000252053	4	90				
MOSPD2	158747	broad.mit.edu	37	X	14929376	14929376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14929376C>A	ENST00000380492.3	+	9	808	c.720C>A	c.(718-720)agC>agA	p.S240R	MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	240			S -> N (in dbSNP:rs35164803).			integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCAAGTATAGCTATCCACCAC	0.373																																						ENST00000380492.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(718-720)agC>agA		motile sperm domain containing 2							159.0	155.0	156.0					X																	14929376		2203	4300	6503	SO:0001583	missense	158747					integral to membrane	structural molecule activity	g.chrX:14929376C>A	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.720C>A	X.37:g.14929376C>A	ENSP00000369860:p.Ser240Arg					MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R|MOSPD2_ENST00000495110.1_3'UTR	p.S240R	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN			9	808	+	Hepatocellular(33;0.183)		240		S -> N (in dbSNP:rs35164803).			Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	c.720C>A	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302246	0.60195	.	.	ENSG00000130150	ENST00000380492	T	0.61274	0.12	4.85	3.72	0.42706	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.078294	0.85682	D	0.000000	T	0.62986	0.2473	M	0.75264	2.295	0.58432	D	0.999998	D	0.58620	0.983	P	0.55455	0.776	T	0.65113	-0.6247	10	0.46703	T	0.11	.	3.4507	0.07496	0.0:0.5535:0.0:0.4465	.	240	Q8NHP6	MSPD2_HUMAN	R	240	ENSP00000369860:S240R	ENSP00000369860:S240R	S	+	3	2	MOSPD2	14839297	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	0.855000	0.27805	2.120000	0.65058	0.594000	0.82650	AGC		0.373	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		142	606	1	0	3.1958e-86	1	4.09675e-86	142	606				
METAP1D	254042	broad.mit.edu	37	2	172944904	172944904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172944904C>T	ENST00000315796.4	+	9	1286	c.899C>T	c.(898-900)gCa>gTa	p.A300V	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	300					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ctggaggatgcatggactgtg	0.448																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(898-900)gCa>gTa		methionyl aminopeptidase type 1D (mitochondrial)							171.0	166.0	168.0					2																	172944904		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172944904C>T	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.899C>T	2.37:g.172944904C>T	ENSP00000315152:p.Ala300Val					METAP1D_ENST00000488581.1_3'UTR	p.A300V	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			9	1286	+			300					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.899C>T	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839983	0.51057	.	.	ENSG00000172878	ENST00000315796	T	0.76839	-1.05	5.95	3.98	0.46160	Peptidase M24, structural domain (3);	0.276681	0.44688	D	0.000435	T	0.66218	0.2767	L	0.34521	1.04	0.32722	N	0.510221	B	0.17465	0.022	B	0.21360	0.034	T	0.70368	-0.4891	10	0.72032	D	0.01	-10.6659	8.2068	0.31461	0.332:0.5529:0.115:0.0	.	300	Q6UB28	AMP1D_HUMAN	V	300	ENSP00000315152:A300V	ENSP00000315152:A300V	A	+	2	0	METAP1D	172653150	0.949000	0.32298	0.814000	0.32528	0.964000	0.63967	2.810000	0.47979	1.496000	0.48567	0.655000	0.94253	GCA		0.448	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		115	544	0	0	0	1	0	115	544				
ZNF521	25925	broad.mit.edu	37	18	22804628	22804628	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804628A>C	ENST00000361524.3	-	4	3402	c.3254T>G	c.(3253-3255)aTc>aGc	p.I1085S	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGGCCATTGATATCAAGTTT	0.537			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3253-3255)aTc>aGc		zinc finger protein 521							75.0	69.0	71.0					18																	22804628		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804628A>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3254T>G	18.37:g.22804628A>C	ENSP00000354794:p.Ile1085Ser					ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S	p.I1085S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3402	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1085					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3254T>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626459	0.28978	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.02	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.19112	0.55	0.45806	D	0.998686	P	0.51449	0.945	P	0.45071	0.468	T	0.06734	-1.0810	10	0.48119	T	0.1	-35.3969	16.2652	0.82574	1.0:0.0:0.0:0.0	.	1085	Q96K83	ZN521_HUMAN	S	1085;1119;1085	ENSP00000354794:I1085S;ENSP00000382352:I1085S	ENSP00000354794:I1085S	I	-	2	0	ZNF521	21058626	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	2.241000	0.73720	0.528000	0.53228	ATC		0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		12	406	0	0	0	1	0	12	406				
EPHA2	1969	broad.mit.edu	37	1	16456084	16456084	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	890	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGATAGACACGCtgcaacagg	0.652																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.e16-1		EPH receptor A2	Dasatinib(DB01254)						30.0	30.0	30.0					1																	16456084		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456084G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2670-1C>T	1.37:g.16456084G>A							p.R890_splice	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	16	2824	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	890			Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.		B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	37	c.2669_splice	CCDS169.1																																																																																				0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Silent	14	115	0	0	0	1	0	14	115				
FCN3	8547	broad.mit.edu	37	1	27697117	27697117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27697117C>T	ENST00000270879.4	-	7	633	c.628G>A	c.(628-630)Gca>Aca	p.A210T	FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	210	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCCCAGTGCCAGCTGGTAG	0.587																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(628-630)Gca>Aca		ficolin (collagen/fibrinogen domain containing) 3							112.0	109.0	110.0					1																	27697117		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697117C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.628G>A	1.37:g.27697117C>T	ENSP00000270879:p.Ala210Thr					FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	p.A210T	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	633	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	210			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.628G>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753229	0.15778	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76448	-1.02;-1.02	5.26	2.29	0.28610	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.227220	0.06133	N	0.671032	T	0.48259	0.1490	N	0.01438	-0.865	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.006	T	0.38802	-0.9644	10	0.21014	T	0.42	.	2.1015	0.03681	0.1596:0.5091:0.1551:0.1763	.	199;210	Q6UXM4;O75636	.;FCN3_HUMAN	T	210;199;88	ENSP00000270879:A210T;ENSP00000347077:A199T	ENSP00000270879:A210T	A	-	1	0	FCN3	27569704	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.305000	0.08188	0.295000	0.22570	0.558000	0.71614	GCA		0.587	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			107	400	0	0	0	1	0	107	400				
ARHGAP44	9912	broad.mit.edu	37	17	12859293	12859293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12859293G>T	ENST00000379672.5	+	14	1546	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.E416*|ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.E416*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	416	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCACAAGCAGAAGGGTAAGT	0.502																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(1246-1248)Gaa>Taa		Rho GTPase activating protein 44							52.0	50.0	51.0					17																	12859293		2011	4167	6178	SO:0001587	stop_gained	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12859293G>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1246G>T	17.37:g.12859293G>T	ENSP00000368994:p.Glu416*					ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.E416*|ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.E416*	p.E416*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			14	1546	+			416			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Nonsense_Mutation	SNP	ENST00000379672.5	37	c.1246G>T	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	40	8.093542	0.98651	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825	.	.	.	5.67	5.67	0.87782	.	0.110120	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	17.2693	0.87096	0.0:0.0:1.0:0.0	.	.	.	.	X	416;78;416	.	ENSP00000342566:E416X	E	+	1	0	ARHGAP44	12800018	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	9.420000	0.97426	2.676000	0.91093	0.655000	0.94253	GAA		0.502	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		6	132	1	0	0.0293803	1	0.0294705	6	132				
CACNA2D1	781	broad.mit.edu	37	7	81964505	81964505	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81964505T>C	ENST00000356253.5	-	3	495	c.240A>G	c.(238-240)gaA>gaG	p.E80E	CACNA2D1_ENST00000423588.1_Silent_p.E80E|CACNA2D1_ENST00000356860.3_Silent_p.E80E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	80					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGGCTGCAATTTCTACCAGCT	0.343																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(238-240)gaA>gaG		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						186.0	193.0	190.0					7																	81964505		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81964505T>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.240A>G	7.37:g.81964505T>C						CACNA2D1_ENST00000356253.5_Silent_p.E80E|CACNA2D1_ENST00000423588.1_Silent_p.E80E	p.E80E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			3	578	-			80					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.240A>G																																																																																					0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				213	883	0	0	0	1	0	213	883				
NAV3	89795	broad.mit.edu	37	12	78604210	78604210	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78604210C>A	ENST00000397909.2	+	40	7244	c.7071C>A	c.(7069-7071)gcC>gcA	p.A2357A	NAV3_ENST00000536525.2_Silent_p.A2335A|NAV3_ENST00000228327.6_Silent_p.A2335A|NAV3_ENST00000541270.1_Silent_p.A187A|NAV3_ENST00000266692.7_Silent_p.A2158A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2357						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGCAGCCAATTACTCGA	0.418										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(7069-7071)gcC>gcA		neuron navigator 3							60.0	62.0	61.0					12																	78604210		1955	4178	6133	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78604210C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7071C>A	12.37:g.78604210C>A		HNSCC(70;0.22)				NAV3_ENST00000541270.1_Silent_p.A187A|NAV3_ENST00000266692.7_Silent_p.A2158A|NAV3_ENST00000228327.6_Silent_p.A2335A|NAV3_ENST00000536525.2_Silent_p.A2335A	p.A2357A			Q8IVL0	NAV3_HUMAN			40	7244	+			2357					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.7071C>A		.	.	.	.	.	.	.	.	.	.	C	8.286	0.816605	0.16607	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73678	-0.3907	4	.	.	.	-16.4759	19.0721	0.93143	0.0:1.0:0.0:0.0	.	.	.	.	K	1230;225	.	.	Q	+	1	0	NAV3	77128341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.021000	0.30040	2.520000	0.84964	0.655000	0.94253	CAA		0.418	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	260	1	0	2.80697e-09	1	2.95087e-09	11	260				
ZNF101	94039	broad.mit.edu	37	19	19790189	19790189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19790189G>A	ENST00000592502.1	+	4	501	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAACGATCTGAGTGTGGTGG	0.527																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(391-393)Gag>Aag		zinc finger protein 101							101.0	84.0	90.0					19																	19790189		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790189G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.391G>A	19.37:g.19790189G>A	ENSP00000468049:p.Glu131Lys					ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K	p.E131K			Q8IZC7	ZN101_HUMAN			4	501	+			131					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.391G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812048	0.16537	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14266	2.52;3.36	0.235	0.235	0.15431	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.31548	0.328	B	0.27262	0.078	T	0.38972	-0.9636	9	0.33141	T	0.24	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	131	Q8IZC7	ZN101_HUMAN	K	131;131;11	ENSP00000319716:E131K;ENSP00000400952:E11K	ENSP00000319716:E131K	E	+	1	0	ZNF101	19651189	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-3.770000	0.00371	0.308000	0.22923	0.313000	0.20887	GAG		0.527	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		30	369	0	0	0	1	0	30	369				
DUSP12	11266	broad.mit.edu	37	1	161721475	161721475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161721475G>A	ENST00000367943.4	+	2	394	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	121	Tyrosine-protein phosphatase.				cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAGTCAGTCGAAGTGTGGCC	0.388																																						ENST00000367943.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)	5						c.(361-363)cGa>cAa		dual specificity phosphatase 12							131.0	133.0	132.0					1																	161721475		2203	4300	6503	SO:0001583	missense	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161721475G>A	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.362G>A	1.37:g.161721475G>A	ENSP00000356920:p.Arg121Gln					DUSP12_ENST00000484291.1_3'UTR	p.R121Q	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		2	394	+	all_hematologic(112;0.0359)		121			Tyrosine-protein phosphatase.		Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	37	c.362G>A	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300539	0.81136	.	.	ENSG00000081721	ENST00000367943	D	0.98345	-4.88	5.04	5.04	0.67666	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97918	4.105	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98383	1.0559	9	0.87932	D	0	.	16.2929	0.82759	0.0:0.0:1.0:0.0	.	121	Q9UNI6	DUS12_HUMAN	Q	121	ENSP00000356920:R121Q	ENSP00000356920:R121Q	R	+	2	0	DUSP12	159988099	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.939000	0.87685	2.504000	0.84457	0.479000	0.44913	CGA		0.388	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		123	579	0	0	0	1	0	123	579				
LRWD1	222229	broad.mit.edu	37	7	102107909	102107909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102107909G>A	ENST00000292616.5	+	4	708	c.556G>A	c.(556-558)Gag>Aag	p.E186K	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	186					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GTCCCTCAGCGAGTTCACCCA	0.622											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(556-558)Gag>Aag		leucine-rich repeats and WD repeat domain containing 1							57.0	56.0	57.0					7																	102107909		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102107909G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.556G>A	7.37:g.102107909G>A	ENSP00000292616:p.Glu186Lys		OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1364		p.E186K	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			4	708	+			186					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.556G>A	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763152	0.89932	.	.	ENSG00000161036	ENST00000292616	T	0.61980	0.06	4.87	4.87	0.63330	.	0.283914	0.39210	N	0.001421	T	0.49915	0.1585	L	0.50333	1.59	0.58432	D	0.999998	P	0.49358	0.923	B	0.31869	0.137	T	0.54807	-0.8238	10	0.29301	T	0.29	-13.4247	15.3252	0.74154	0.0:0.0:1.0:0.0	.	186	Q9UFC0	LRWD1_HUMAN	K	186	ENSP00000292616:E186K	ENSP00000292616:E186K	E	+	1	0	LRWD1	101894914	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.608000	0.82898	2.527000	0.85204	0.462000	0.41574	GAG		0.622	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		35	161	0	0	0	1	0	35	161				
NEB	4703	broad.mit.edu	37	2	152528985	152528985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152528985G>A	ENST00000172853.10	-	37	4344	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_ENST00000603639.1_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000397345.3_Silent_p.V1399V|NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000427231.2_Silent_p.V1399V			P20929	NEBU_HUMAN	nebulin	1399					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGGTAGCGACATCCTGGG	0.458																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(4195-4197)gtC>gtT		nebulin							187.0	178.0	181.0					2																	152528985		2070	4220	6290	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152528985G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4197C>T	2.37:g.152528985G>A						NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000603639.1_Silent_p.V1399V|NEB_ENST00000172853.10_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000427231.2_Silent_p.V1399V	p.V1399V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	37	4399	-			1399					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.4197C>T																																																																																					0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		93	287	0	0	0	1	0	93	287				
MEX3B	84206	broad.mit.edu	37	15	82335561	82335561	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335561G>A	ENST00000329713.4	-	2	2085	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	550					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTCGGGCTCGCTCTTCTCAC	0.627																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(1648-1650)agC>agT		mex-3 RNA binding family member B							56.0	55.0	55.0					15																	82335561		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82335561G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1650C>T	15.37:g.82335561G>A						MEX3B_ENST00000558133.1_3'UTR	p.S550S	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	2085	-			550					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.1650C>T	CCDS10319.1																																																																																				0.627	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		17	441	0	0	0	1	0	17	441				
ZCCHC11	23318	broad.mit.edu	37	1	52991459	52991459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52991459C>T	ENST00000371544.3	-	2	756	c.494G>A	c.(493-495)aGt>aAt	p.S165N	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	165					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAACAGTAAACTGGGTCCCTT	0.383																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(493-495)aGt>aAt		zinc finger, CCHC domain containing 11							188.0	195.0	192.0					1																	52991459		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991459C>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.494G>A	1.37:g.52991459C>T	ENSP00000360599:p.Ser165Asn					ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N	p.S165N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	756	-			165					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.494G>A	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	7.437	0.639883	0.14386	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	T;T;T	0.51574	0.7;0.81;0.8	4.58	2.61	0.31194	.	1.264840	0.05126	N	0.491576	T	0.37293	0.0998	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.12013	0.001;0.001;0.005;0.0	B;B;B;B	0.09377	0.001;0.004;0.004;0.002	T	0.22277	-1.0221	10	0.31617	T	0.26	.	6.7983	0.23736	0.0:0.7609:0.0:0.2391	.	165;165;165;165	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	N	165	ENSP00000257177:S165N;ENSP00000360599:S165N;ENSP00000433486:S165N	ENSP00000257177:S165N	S	-	2	0	ZCCHC11	52764047	0.009000	0.17119	0.289000	0.24876	0.924000	0.55760	-0.119000	0.10676	0.572000	0.29383	0.655000	0.94253	AGT		0.383	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		116	937	0	0	0	1	0	116	937				
MUC4	4585	broad.mit.edu	37	3	195487809	195487809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195487809C>T	ENST00000346145.4	-	15	2125	c.2086G>A	c.(2086-2088)Gga>Aga	p.G696R	MUC4_ENST00000463781.3_Missense_Mutation_p.G4932R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1689					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTGAAGTCCGATGCTTGCG	0.552																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(14794-14796)Gga>Aga		mucin 4, cell surface associated							128.0	114.0	119.0					3																	195487809		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195487809C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2086G>A	3.37:g.195487809C>T	ENSP00000304207:p.Gly696Arg					MUC4_ENST00000346145.4_Missense_Mutation_p.G696R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R	p.G4932R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	16	15253	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1689					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14794G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.765484	0.49574	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.61040	0.14;0.5;0.36;0.35	4.98	4.98	0.66077	.	0.000000	0.51477	D	0.000100	T	0.74772	0.3760	M	0.72894	2.215	0.29535	N	0.852531	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	0.91635	0.999;0.991;0.995;0.999;0.999;0.998	T	0.73512	-0.3959	10	0.87932	D	0	-12.1818	15.4417	0.75187	0.0:1.0:0.0:0.0	.	4804;645;696;4932;4880;1637	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	R	645;696;4932;4880;1432	ENSP00000338109:G645R;ENSP00000304207:G696R;ENSP00000417498:G4932R;ENSP00000420243:G4880R	ENSP00000304207:G696R	G	-	1	0	MUC4	196973480	0.131000	0.22433	0.062000	0.19696	0.017000	0.09413	2.220000	0.42908	2.333000	0.79357	0.556000	0.70494	GGA		0.552	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		91	355	0	0	0	1	0	91	355				
ZNF655	79027	broad.mit.edu	37	7	99170087	99170087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99170087G>A	ENST00000394163.2	+	3	539	c.356G>A	c.(355-357)aGc>aAc	p.S119N	ZNF655_ENST00000252713.4_Missense_Mutation_p.S119N|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.S154N|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S154N	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	119					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATAACAATCAGCAAGGAAACC	0.388																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(460-462)aGc>aAc		zinc finger protein 655							80.0	77.0	78.0					7																	99170087		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170087G>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.356G>A	7.37:g.99170087G>A	ENSP00000377718:p.Ser119Asn					ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.S119N|ZNF655_ENST00000394163.2_Missense_Mutation_p.S119N|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S154N	p.S154N	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	681	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		119					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.461G>A	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584003	0.28268	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000422164;ENST00000424881;ENST00000394163	T;T;T;T;T	0.30714	3.45;3.4;1.52;3.4;3.45	4.32	3.43	0.39272	.	0.362607	0.24067	N	0.041860	T	0.30166	0.0756	L	0.54323	1.7	0.80722	D	1	B;B	0.30973	0.302;0.201	B;B	0.36186	0.219;0.055	T	0.17930	-1.0353	10	0.72032	D	0.01	-1.7955	7.7222	0.28740	0.0:0.1797:0.6344:0.1859	.	154;119	Q8N720-3;Q8N720	.;ZN655_HUMAN	N	119;154;154;154;119	ENSP00000252713:S119N;ENSP00000419135:S154N;ENSP00000389260:S154N;ENSP00000393876:S154N;ENSP00000377718:S119N	ENSP00000252713:S119N	S	+	2	0	ZNF655	99008023	0.027000	0.19231	1.000000	0.80357	0.936000	0.57629	1.530000	0.36007	1.409000	0.46915	0.650000	0.86243	AGC		0.388	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		67	356	0	0	0	1	0	67	356				
IL26	55801	broad.mit.edu	37	12	68619463	68619463	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68619463T>C	ENST00000229134.4	-	1	138	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	25					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GAAGGAAGATTGCTTGTGCTT	0.473																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(73-75)cAa>cGa		interleukin 26							281.0	244.0	256.0					12																	68619463		2203	4300	6503	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619463T>C	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.74A>G	12.37:g.68619463T>C	ENSP00000229134:p.Gln25Arg					IFNG-AS1_ENST00000536914.1_RNA	p.Q25R	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	138	-			25						Missense_Mutation	SNP	ENST00000229134.4	37	c.74A>G	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	T	6.148	0.395487	0.11638	.	.	ENSG00000111536	ENST00000229134	T	0.63255	-0.03	4.54	-3.12	0.05282	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.841659	0.10253	N	0.696898	T	0.45518	0.1346	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29305	-1.0016	9	.	.	.	.	8.342	0.32249	0.0:0.0805:0.5146:0.4049	.	25	Q9NPH9	IL26_HUMAN	R	25	ENSP00000229134:Q25R	.	Q	-	2	0	IL26	66905730	0.005000	0.15991	0.006000	0.13384	0.481000	0.33189	0.399000	0.20916	-0.619000	0.05648	0.379000	0.24179	CAA		0.473	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		149	626	0	0	0	1	0	149	626				
ZSCAN22	342945	broad.mit.edu	37	19	58850414	58850414	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58850414C>T	ENST00000329665.4	+	3	1345	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	400					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TCAACACCAGCGCATCCACAC	0.632																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1198-1200)Cgc>Tgc		zinc finger and SCAN domain containing 22							79.0	73.0	75.0					19																	58850414		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850414C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1198C>T	19.37:g.58850414C>T	ENSP00000332433:p.Arg400Cys						p.R400C	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1345	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	400					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1198C>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087477	0.36855	.	.	ENSG00000182318	ENST00000329665	T	0.25749	1.78	4.06	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46946	0.1419	M	0.89904	3.07	0.41325	D	0.987202	D	0.89917	1.0	D	0.73380	0.98	T	0.54984	-0.8211	9	0.87932	D	0	.	3.2415	0.06782	0.5382:0.2312:0.1359:0.0948	.	400	P10073	ZSC22_HUMAN	C	400	ENSP00000332433:R400C	ENSP00000332433:R400C	R	+	1	0	ZSCAN22	63542226	0.000000	0.05858	0.563000	0.28383	0.018000	0.09664	-4.341000	0.00250	-0.151000	0.11176	-0.311000	0.09066	CGC		0.632	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		61	392	0	0	0	1	0	61	392				
TAF3	83860	broad.mit.edu	37	10	8051129	8051129	+	Missense_Mutation	SNP	G	G	A	rs376569744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8051129G>A	ENST00000344293.5	+	5	2610	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	802	Pro-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						ccccgcgcccgcccccggccc	0.771																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(2404-2406)Gcc>Acc		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa		G	THR/ALA	2,1976		0,2,987	6.0	10.0	9.0		2404	4.6	0.0	10		9	0,4616		0,0,2308	no	missense	TAF3	NM_031923.2	58	0,2,3295	AA,AG,GG		0.0,0.1011,0.0303	possibly-damaging	802/930	8051129	2,6592	989	2308	3297	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8051129G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2404G>A	10.37:g.8051129G>A	ENSP00000340271:p.Ala802Thr						p.A802T	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			5	2610	+			802			Pro-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2404G>A	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015318	0.35511	0.001011	0.0	ENSG00000165632	ENST00000344293	T	0.18502	2.21	5.53	4.62	0.57501	.	0.243575	0.27043	U	0.021214	T	0.16214	0.0390	M	0.65975	2.015	0.09310	N	1	P	0.41710	0.76	B	0.24974	0.057	T	0.17048	-1.0382	10	0.15499	T	0.54	.	17.4995	0.87727	0.0658:0.0:0.9342:0.0	.	802	Q5VWG9	TAF3_HUMAN	T	802	ENSP00000340271:A802T	ENSP00000340271:A802T	A	+	1	0	TAF3	8091135	0.629000	0.27146	0.001000	0.08648	0.000000	0.00434	1.804000	0.38873	0.712000	0.32039	-0.797000	0.03246	GCC		0.771	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		8	110	0	0	0	1	0	8	110				
ANKRD52	283373	broad.mit.edu	37	12	56647086	56647086	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647086G>A	ENST00000267116.7	-	10	1207	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	362										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGGTATCTGCGCCATTGGTCA	0.572																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1084-1086)ggC>ggT		ankyrin repeat domain 52							69.0	72.0	71.0					12																	56647086		2105	4227	6332	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56647086G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1086C>T	12.37:g.56647086G>A							p.G362G	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			10	1207	-			362					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.1086C>T	CCDS44920.1																																																																																				0.572	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		64	292	0	0	0	1	0	64	292				
ASAP3	55616	broad.mit.edu	37	1	23758362	23758362	+	Silent	SNP	C	C	T	rs375573559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23758362C>T	ENST00000336689.3	-	23	2417	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ASAP3_ENST00000495646.1_Silent_p.E295E|ASAP3_ENST00000437606.2_Silent_p.E782E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	791					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGCCCAGGCTCTCAGGGGTCT	0.552																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(2371-2373)gaG>gaA		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3		C	,	1,4405	2.1+/-5.4	0,1,2202	40.0	47.0	45.0		2346,2373	3.1	0.7	1		45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASAP3	NM_001143778.1,NM_017707.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	782/895,791/904	23758362	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23758362C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2373G>A	1.37:g.23758362C>T						ASAP3_ENST00000484906.1_Intron|ASAP3_ENST00000437606.2_Silent_p.E782E|ASAP3_ENST00000495646.1_Silent_p.E295E	p.E791E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			23	2417	-			791					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.2373G>A	CCDS235.1																																																																																				0.552	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		78	298	0	0	0	1	0	78	298				
RERGL	79785	broad.mit.edu	37	12	18234333	18234333	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18234333T>G	ENST00000229002.2	-	6	616	c.410A>C	c.(409-411)gAa>gCa	p.E137A	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.E136A	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	137	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTTTGCCCTTCTTCCCAGCC	0.443																																						ENST00000229002.2																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(409-411)gAa>gCa		RERG/RAS-like							104.0	95.0	98.0					12																	18234333		2203	4300	6503	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18234333T>G	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.410A>C	12.37:g.18234333T>G	ENSP00000229002:p.Glu137Ala					RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.E136A	p.E137A	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN			6	616	-			137			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.410A>C	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576717	0.86645	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.79033	-1.23;-1.23	4.74	4.74	0.60224	.	0.052009	0.85682	D	0.000000	D	0.88808	0.6537	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.85130	0.868;0.997	D	0.90633	0.4568	10	0.72032	D	0.01	.	13.5615	0.61793	0.0:0.0:0.0:1.0	.	136;137	F5H686;Q9H628	.;RERGL_HUMAN	A	137;136	ENSP00000229002:E137A;ENSP00000437814:E136A	ENSP00000229002:E137A	E	-	2	0	RERGL	18125600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.905000	0.75714	2.073000	0.62155	0.456000	0.33151	GAA		0.443	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		72	417	0	0	0	1	0	72	417				
NPAS2	4862	broad.mit.edu	37	2	101606760	101606760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101606760G>T	ENST00000335681.5	+	18	2155	c.1870G>T	c.(1870-1872)Ggc>Tgc	p.G624C	NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	624					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGAGCAGCGGCCGCTCTGG	0.572																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1870-1872)Ggc>Tgc		neuronal PAS domain protein 2							73.0	73.0	73.0					2																	101606760		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101606760G>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1870G>T	2.37:g.101606760G>T	ENSP00000338283:p.Gly624Cys					NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	p.G624C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			18	2155	+			624					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1870G>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.160|8.160	0.789285|0.789285	0.16258|0.16258	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000433408	T;T|.	0.05025|.	3.53;3.51|.	4.66|4.66	-0.419|-0.419	0.12340|0.12340	.|.	1.028670|.	0.07683|.	N|.	0.937489|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;D|.	0.76494|.	0.999;0.993|.	P;P|.	0.60415|.	0.874;0.672|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|5	0.38643|.	T|.	0.18|.	.|.	5.7997|5.7997	0.18408|0.18408	0.331:0.0:0.5374:0.1316|0.331:0.0:0.5374:0.1316	.|.	689;624|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	C|L	624;689|122	ENSP00000338283:G624C;ENSP00000438428:G689C|.	ENSP00000338283:G624C|.	G|R	+|+	1|2	0|0	NPAS2|NPAS2	100973192|100973192	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.028000|0.028000	0.11728|0.11728	-1.072000|-1.072000	0.03434|0.03434	-0.092000|-0.092000	0.12417|0.12417	-0.463000|-0.463000	0.05309|0.05309	GGC|CGG		0.572	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			122	424	1	0	3.19965e-69	1	4.05994e-69	122	424				
OR4D2	124538	broad.mit.edu	37	17	56247902	56247902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247902G>T	ENST00000545221.1	+	1	886	c.886G>T	c.(886-888)Gca>Tca	p.A296S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A296T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGACATGCAGGCAGCAGTGAG	0.512																																						ENST00000545221.1																			1	Substitution - Missense(1)	p.A296T(1)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(886-888)Gca>Tca		olfactory receptor, family 4, subfamily D, member 2							101.0	101.0	101.0					17																	56247902		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247902G>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.886G>T	17.37:g.56247902G>T	ENSP00000441354:p.Ala296Ser						p.A296S	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	886	+			296					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.886G>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	1.950	-0.441560	0.04604	.	.	ENSG00000255713	ENST00000545221	T	0.36520	1.25	5.65	4.58	0.56647	.	0.124396	0.36482	N	0.002563	T	0.14184	0.0343	N	0.05259	-0.085	0.26979	N	0.965404	B	0.14012	0.009	B	0.15870	0.014	T	0.27331	-1.0077	10	0.09338	T	0.73	-12.4766	6.156	0.20338	0.092:0.0:0.6791:0.2289	.	296	P58180	OR4D2_HUMAN	S	296	ENSP00000441354:A296S	ENSP00000441354:A296S	A	+	1	0	OR4D2	53602901	0.002000	0.14202	1.000000	0.80357	0.791000	0.44710	-0.003000	0.12901	2.825000	0.97269	0.609000	0.83330	GCA		0.512	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			32	596	1	0	7.63215e-27	1	8.81417e-27	32	596				
MXRA5	25878	broad.mit.edu	37	X	3261761	3261761	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3261761C>A	ENST00000217939.6	-	2	268	c.114G>T	c.(112-114)gaG>gaT	p.E38D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	38	LRRNT.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCAGTGGACCTCGCTGGGGA	0.617																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(112-114)gaG>gaT		matrix-remodelling associated 5							58.0	41.0	46.0					X																	3261761		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3261761C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.114G>T	X.37:g.3261761C>A	ENSP00000217939:p.Glu38Asp						p.E38D	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			2	268	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	38			LRRNT.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.114G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266769	0.59540	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02606	4.23	3.17	-0.504	0.11997	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.38436	U	0.001690	T	0.07234	0.0183	L	0.41632	1.29	0.24000	N	0.996212	D	0.76494	0.999	D	0.73708	0.981	T	0.08046	-1.0741	10	0.72032	D	0.01	.	9.8629	0.41125	0.0:0.523:0.0:0.477	.	38	Q9NR99	MXRA5_HUMAN	D	38	ENSP00000217939:E38D	ENSP00000217939:E38D	E	-	3	2	MXRA5	3271761	0.981000	0.34729	0.993000	0.49108	0.783000	0.44284	0.003000	0.13083	-0.114000	0.11936	0.506000	0.49869	GAG		0.617	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		44	136	1	0	1.22674e-20	1	1.37621e-20	44	136				
MYLIP	29116	broad.mit.edu	37	6	16141919	16141919	+	Silent	SNP	G	G	A	rs139469255	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16141919G>A	ENST00000356840.3	+	3	540	c.342G>A	c.(340-342)gaG>gaA	p.E114E	MYLIP_ENST00000349606.4_5'UTR|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	114	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTTCCCCAGAGCAGGCAGTGG	0.532													G|||	3	0.000599042	0.0	0.0	5008	,	,		19053	0.0		0.003	False		,,,				2504	0.0					ENST00000356840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(340-342)gaG>gaA		myosin regulatory light chain interacting protein		G		0,4406		0,0,2203	87.0	82.0	84.0		342	4.5	1.0	6	dbSNP_134	84	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	MYLIP	NM_013262.3		0,7,6496	AA,AG,GG		0.0814,0.0,0.0538		114/446	16141919	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16141919G>A	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.342G>A	6.37:g.16141919G>A						MYLIP_ENST00000349606.4_5'UTR	p.E114E	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		3	540	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	114			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.342G>A	CCDS4536.1																																																																																				0.532	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		51	254	0	0	0	1	0	51	254				
JADE2	23338	broad.mit.edu	37	5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133896555G>A	ENST00000402835.1	+	6	847	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000395003.1_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(592-594)Gag>Aag									220.0	169.0	186.0					5																	133896555		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133896555G>A																												ENST00000402835.1:c.592G>A	5.37:g.133896555G>A	ENSP00000384671:p.Glu198Lys					PHF15_ENST00000402835.1_Missense_Mutation_p.E198K|PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K	p.E198K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	771	+			198						Missense_Mutation	SNP	ENST00000402835.1	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738249	0.89573	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.77004	0.986;0.989;0.986;0.982;0.986	D	0.93487	0.6832	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	198;198;198;198;214	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	K	198;214;198;198;198;198;198;198	ENSP00000282605:E198K;ENSP00000354425:E198K;ENSP00000384671:E198K;ENSP00000378451:E198K;ENSP00000406189:E198K	ENSP00000282605:E198K	E	+	1	0	PHF15	133924454	1.000000	0.71417	0.969000	0.41365	0.032000	0.12392	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG		0.592	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			46	273	0	0	0	1	0	46	273				
CD177	57126	broad.mit.edu	37	19	43858420	43858420	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858420C>T	ENST00000607517.1	+	0	311				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGGAGCCCCGCGTCACTGAGC	0.647																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule							39.0	51.0	47.0					19																	43858420		2009	4162	6171			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43858420C>T	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43858420C>T						CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	297	+		Prostate(69;0.00682)						Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	RNA	SNP	ENST00000607517.1	37																																																																																						0.647	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		43	178	0	0	0	1	0	43	178				
INF2	64423	broad.mit.edu	37	14	105174179	105174179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174179C>T	ENST00000392634.4	+	8	1687	c.1575C>T	c.(1573-1575)acC>acT	p.T525T	INF2_ENST00000330634.7_Silent_p.T525T	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	525					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGCCCTGCACCTGCAGCCCCC	0.716																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1573-1575)acC>acT		inverted formin, FH2 and WH2 domain containing							13.0	15.0	14.0					14																	105174179		1920	4080	6000	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174179C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1575C>T	14.37:g.105174179C>T						INF2_ENST00000330634.7_Silent_p.T525T	p.T525T	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1687	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	525					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1575C>T	CCDS9989.2																																																																																				0.716	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		8	101	0	0	0	1	0	8	101				
PICK1	9463	broad.mit.edu	37	22	38470346	38470346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38470346C>T	ENST00000404072.3	+	12	1214	c.867C>T	c.(865-867)acC>acT	p.T289T	PICK1_ENST00000356976.3_Silent_p.T289T|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	289	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GGGTGAGCACCGGCAACTATG	0.672											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(865-867)acC>acT		protein interacting with PRKCA 1							27.0	30.0	29.0					22																	38470346		2203	4298	6501	SO:0001819	synonymous_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38470346C>T	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.867C>T	22.37:g.38470346C>T			OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	PICK1_ENST00000356976.3_Silent_p.T289T	p.T289T	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			12	1214	+	Melanoma(58;0.045)		289			AH.		B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.867C>T	CCDS13965.1																																																																																				0.672	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		55	228	0	0	0	1	0	55	228				
DIDO1	11083	broad.mit.edu	37	20	61542497	61542497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542497G>A	ENST00000266070.4	-	3	793	c.468C>T	c.(466-468)agC>agT	p.S156S	DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S|DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000370371.4_Silent_p.S156S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	156					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAGGCCATCGCTGTCACTAT	0.587																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(466-468)agC>agT		death inducer-obliterator 1							93.0	72.0	80.0					20																	61542497		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542497G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.468C>T	20.37:g.61542497G>A						DIDO1_ENST00000370371.4_Silent_p.S156S|DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S|DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S	p.S156S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	793	-	Breast(26;5.68e-08)		156					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.468C>T	CCDS33506.1																																																																																				0.587	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		97	346	0	0	0	1	0	97	346				
FAM78B	149297	broad.mit.edu	37	1	166039940	166039940	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039940A>G	ENST00000338353.3	-	3	913	c.324T>C	c.(322-324)gaT>gaC	p.D108D	FAM78B_ENST00000354422.3_Silent_p.D108D			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	108										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCTCACCCCATCTGAGTCAC	0.522																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(322-324)gaT>gaC		family with sequence similarity 78, member B							86.0	83.0	84.0					1																	166039940		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039940A>G	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.324T>C	1.37:g.166039940A>G						FAM78B_ENST00000354422.3_Silent_p.D108D	p.D108D			Q5VT40	FA78B_HUMAN			3	913	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		108					B7Z693	Silent	SNP	ENST00000338353.3	37	c.324T>C	CCDS30931.1																																																																																				0.522	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		34	348	0	0	0	1	0	34	348				
GNL1	2794	broad.mit.edu	37	6	30520942	30520942	+	Missense_Mutation	SNP	G	G	A	rs542666619		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30520942G>A	ENST00000376621.3	-	7	1793	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	275	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCGCCTCCGACTCTTCTTC	0.602																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(823-825)Cgg>Tgg		guanine nucleotide binding protein-like 1							85.0	89.0	88.0					6																	30520942		2203	4300	6503	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30520942G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.823C>T	6.37:g.30520942G>A	ENSP00000365806:p.Arg275Trp						p.R275W	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			7	1793	-			275					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.823C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476934	0.84640	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.51325	0.71	5.11	5.11	0.69529	.	0.168978	0.48286	D	0.000182	T	0.57784	0.2077	M	0.71206	2.165	0.45227	D	0.998237	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66979	0.948;0.893;0.853	T	0.61501	-0.7050	10	0.62326	D	0.03	-26.8611	12.7425	0.57261	0.0:0.0:0.8354:0.1645	.	273;137;275	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	W	275;97;137	ENSP00000365806:R275W	ENSP00000365806:R275W	R	-	1	2	GNL1	30628921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.251000	0.58778	2.552000	0.86080	0.655000	0.94253	CGG		0.602	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			27	647	0	0	0	1	0	27	647				
MUC16	94025	broad.mit.edu	37	19	9054331	9054331	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9054331C>A	ENST00000397910.4	-	4	31494	c.31291G>T	c.(31291-31293)Gaa>Taa	p.E10431*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10433	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGTGTTCCATAATGCCA	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31291-31293)Gaa>Taa		mucin 16, cell surface associated							251.0	237.0	241.0					19																	9054331		1958	4165	6123	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9054331C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31291G>T	19.37:g.9054331C>A	ENSP00000381008:p.Glu10431*						p.E10431*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			4	31494	-			10433			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.31291G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	48.001481	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.25	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4466	0.16539	0.0:0.2562:0.1717:0.5721	.	.	.	.	X	10431	.	ENSP00000381008:E10431X	E	-	1	0	MUC16	8915331	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	-0.925000	0.03775	-0.218000	0.12543	GAA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	103	1	0	1.64113e-05	1	1.68037e-05	18	103				
PLEKHH2	130271	broad.mit.edu	37	2	43939382	43939382	+	Missense_Mutation	SNP	A	A	G	rs577718828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43939382A>G	ENST00000282406.4	+	15	2430	c.2320A>G	c.(2320-2322)Aca>Gca	p.T774A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	774	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAAAAACACACATACTATCT	0.383													A|||	2	0.000399361	0.0	0.0	5008	,	,		20997	0.0		0.0	False		,,,				2504	0.002					ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2320-2322)Aca>Gca		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							158.0	148.0	151.0					2																	43939382		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43939382A>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2320A>G	2.37:g.43939382A>G	ENSP00000282406:p.Thr774Ala						p.T774A	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			15	2430	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	774			PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2320A>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897967	0.72639	.	.	ENSG00000152527	ENST00000282406	T	0.15017	2.46	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.110415	0.64402	D	0.000007	T	0.34687	0.0906	M	0.83692	2.655	0.44201	D	0.997028	P;B	0.46327	0.876;0.4	P;B	0.49252	0.604;0.173	T	0.28554	-1.0040	10	0.56958	D	0.05	-20.575	14.981	0.71311	1.0:0.0:0.0:0.0	.	774;211	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	A	774	ENSP00000282406:T774A	ENSP00000282406:T774A	T	+	1	0	PLEKHH2	43792886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.179000	0.58290	1.935000	0.56089	0.377000	0.23210	ACA		0.383	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		97	492	0	0	0	1	0	97	492				
ANAPC5	51433	broad.mit.edu	37	12	121746318	121746318	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121746318G>A	ENST00000261819.3	-	17	2354	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S|ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	745					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAGAGGGCAGCTCCTGA	0.552																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2233-2235)Ccc>Tcc		anaphase promoting complex subunit 5							86.0	84.0	85.0					12																	121746318		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746318G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2233C>T	12.37:g.121746318G>A	ENSP00000261819:p.Pro745Ser					ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S	p.P745S	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			17	2354	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		745					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2233C>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758232	0.69763	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.61	5.61	0.85477	.	0.053087	0.85682	D	0.000000	T	0.54951	0.1890	L	0.59436	1.845	0.80722	D	1	P;B;B	0.38597	0.639;0.123;0.264	B;B;B	0.35655	0.207;0.042;0.061	T	0.53041	-0.8494	9	0.24483	T	0.36	.	18.6393	0.91389	0.0:0.0:1.0:0.0	.	411;633;745	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	S	633;732;745;411;347;633	.	ENSP00000261819:P745S	P	-	1	0	ANAPC5	120230701	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.733000	0.91539	2.646000	0.89796	0.563000	0.77884	CCC		0.552	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			9	374	0	0	0	1	0	9	374				
CPT2	1376	broad.mit.edu	37	1	53676305	53676305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53676305C>T	ENST00000371486.3	+	4	1474	c.959C>T	c.(958-960)tCg>tTg	p.S320L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	320					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AAAGTGGACTCGGCAGTGTTC	0.537																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(958-960)tCg>tTg		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						87.0	81.0	83.0					1																	53676305		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676305C>T	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.959C>T	1.37:g.53676305C>T	ENSP00000360541:p.Ser320Leu					RP5-1024G6.2_ENST00000452466.1_RNA	p.S320L	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1474	+			320					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.959C>T	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894892	0.72639	.	.	ENSG00000157184	ENST00000371486	D	0.91295	-2.82	5.51	5.51	0.81932	.	0.206216	0.50627	D	0.000101	D	0.96842	0.8969	H	0.94964	3.605	0.45415	D	0.998399	D	0.89917	1.0	D	0.74023	0.982	D	0.97558	1.0096	10	0.72032	D	0.01	-27.5427	19.4394	0.94811	0.0:1.0:0.0:0.0	.	320	P23786	CPT2_HUMAN	L	320	ENSP00000360541:S320L	ENSP00000360541:S320L	S	+	2	0	CPT2	53448893	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.438000	0.52871	2.581000	0.87130	0.655000	0.94253	TCG		0.537	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		43	334	0	0	0	1	0	43	334				
DOCK10	55619	broad.mit.edu	37	2	225651821	225651821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651821C>A	ENST00000258390.7	-	50	5640	c.5573G>T	c.(5572-5574)cGg>cTg	p.R1858L	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1852L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1858	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGATATGACCGATGAATGTC	0.403																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5554-5556)cGg>cTg		dedicator of cytokinesis 10							132.0	124.0	127.0					2																	225651821		1878	4113	5991	SO:0001583	missense	55619						GTP binding	g.chr2:225651821C>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5573G>T	2.37:g.225651821C>A	ENSP00000258390:p.Arg1858Leu					DOCK10_ENST00000258390.7_Missense_Mutation_p.R1858L	p.R1852L			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	50	5668	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1858			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5555G>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236618	0.95240	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.20200	2.09;2.09	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	L	0.61036	1.89	0.80722	D	1	D;D;P;P	0.69078	0.98;0.997;0.955;0.956	P;D;P;P	0.72075	0.753;0.976;0.663;0.612	T	0.21348	-1.0248	10	0.56958	D	0.05	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	1858;679;1852;520	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	L	1852;1858;363	ENSP00000386694:R1852L;ENSP00000258390:R1858L	ENSP00000258390:R1858L	R	-	2	0	DOCK10	225360065	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	CGG		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			8	542	1	0	0.0477658	1	0.0478703	8	542				
SLC41A3	54946	broad.mit.edu	37	3	125725380	125725380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725380G>T	ENST00000315891.6	-	12	1632	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D|SLC41A3_ENST00000360370.4_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	465						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCTTGGCACAGCAGCAGTGTG	0.507																																						ENST00000315891.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1393-1395)gCt>gAt		solute carrier family 41, member 3							58.0	55.0	56.0					3																	125725380		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125725380G>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1394C>A	3.37:g.125725380G>T	ENSP00000326070:p.Ala465Asp					SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000383598.2_3'UTR	p.A465D	NM_001008485.1|NM_017836.3	NP_001008485.1|NP_060306.3	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	12	1632	-			465					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.1394C>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842629	0.16963	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34667	1.35;1.35	3.69	-6.75	0.01738	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17653	-1.0362	9	0.49607	T	0.09	-16.7887	0.8389	0.01145	0.1802:0.2234:0.3116:0.2848	.	429;465	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	429;465	ENSP00000264471:A429D;ENSP00000326070:A465D	ENSP00000326070:A465D	A	-	2	0	SLC41A3	127208070	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.509000	0.06336	-1.735000	0.01353	0.591000	0.81541	GCT		0.507	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		34	159	1	0	2.09667e-21	1	2.36065e-21	34	159				
GPAM	57678	broad.mit.edu	37	10	113917132	113917132	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113917132C>A	ENST00000348367.4	-	19	2193	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	666					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGACTGATATCTTCCTGGTCA	0.483																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1996-1998)Gat>Tat		glycerol-3-phosphate acyltransferase, mitochondrial							119.0	98.0	105.0					10																	113917132		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113917132C>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1996G>T	10.37:g.113917132C>A	ENSP00000265276:p.Asp666Tyr					GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y	p.D666Y			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	19	2193	-			666					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1996G>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798844	0.90538	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69806	-0.43;-0.43;-0.42	5.63	5.63	0.86233	.	0.163773	0.53938	D	0.000052	T	0.76513	0.3998	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.888	T	0.73014	-0.4116	10	0.35671	T	0.21	-16.7223	18.2342	0.89944	0.0:1.0:0.0:0.0	.	666;666	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Y	666	ENSP00000265276:D666Y;ENSP00000409242:D666Y;ENSP00000358433:D666Y	ENSP00000265276:D666Y	D	-	1	0	GPAM	113907122	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.912000	0.75753	2.808000	0.96608	0.655000	0.94253	GAT		0.483	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		56	233	1	0	4.88482e-21	1	5.49248e-21	56	233				
LDOC1	23641	broad.mit.edu	37	X	140270770	140270770	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140270770T>C	ENST00000370526.2	-	1	540	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	LDOC1_ENST00000460721.1_Intron|RP3-507I15.2_ENST00000566241.1_RNA	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	146					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GAGGGCCTAATAATCATCCTC	0.647																																						ENST00000370526.2																			0				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14						c.(436-438)tAt>tGt		leucine zipper, down-regulated in cancer 1							55.0	36.0	43.0					X																	140270770		2203	4297	6500	SO:0001583	missense	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140270770T>C	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.437A>G	X.37:g.140270770T>C	ENSP00000359557:p.Tyr146Cys					LDOC1_ENST00000460721.1_Intron	p.Y146C	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN			1	540	-	Acute lymphoblastic leukemia(192;7.65e-05)		146					Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	c.437A>G	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	2.122	-0.401183	0.04865	.	.	ENSG00000182195	ENST00000370526	T	0.22945	1.93	3.67	2.47	0.30058	.	0.481200	0.15306	U	0.269334	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	B	0.37601	0.254	T	0.13764	-1.0497	10	0.87932	D	0	.	5.4737	0.16684	0.251:0.0:0.0:0.749	.	146	O95751	LDOC1_HUMAN	C	146	ENSP00000359557:Y146C	ENSP00000359557:Y146C	Y	-	2	0	LDOC1	140098436	0.982000	0.34865	0.308000	0.25141	0.003000	0.03518	0.671000	0.25172	0.573000	0.29400	0.237000	0.17872	TAT		0.647	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		26	114	0	0	0	1	0	26	114				
MAP10	54627	broad.mit.edu	37	1	232940995	232940995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232940995C>T	ENST00000418460.1	+	1	353	c.226C>T	c.(226-228)Cac>Tac	p.H76Y		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AAAAACGGCTCACAAGTATGC	0.458																																						ENST00000418460.1																			0											c.(226-228)Cac>Tac		microtubule-associated protein 10							112.0	114.0	113.0					1																	232940995		1960	4154	6114	SO:0001583	missense	54627							g.chr1:232940995C>T	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.226C>T	1.37:g.232940995C>T	ENSP00000403208:p.His76Tyr						p.H76Y	NM_019090.2	NP_061963.2					1	353	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.226C>T	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	8.761	0.923593	0.18056	.	.	ENSG00000212916	ENST00000418460	.	.	.	1.97	-2.99	0.05497	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33548	-0.9864	5	0.11485	T	0.65	.	7.8487	0.29442	0.0:0.6329:0.0:0.3671	.	.	.	.	Y	76	.	ENSP00000403208:H76Y	H	+	1	0	KIAA1383	231007618	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.729000	0.04920	-1.098000	0.03038	-1.786000	0.00637	CAC		0.458	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		100	444	0	0	0	1	0	100	444				
TBX10	347853	broad.mit.edu	37	11	67401799	67401799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67401799G>A	ENST00000335385.3	-	4	497	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	137					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TGCCTTGCCCGCCACCAGCCA	0.647																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(409-411)gCg>gTg		T-box 10							44.0	42.0	43.0					11																	67401799		2200	4289	6489	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67401799G>A	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.410C>T	11.37:g.67401799G>A	ENSP00000335191:p.Ala137Val						p.A137V	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			4	497	-			137					Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.410C>T	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347886	0.82022	.	.	ENSG00000167800	ENST00000335385	D	0.89681	-2.55	3.56	3.56	0.40772	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000010	D	0.94679	0.8284	M	0.88640	2.97	0.53688	D	0.999979	D	0.89917	1.0	D	0.72625	0.978	D	0.95633	0.8691	10	0.87932	D	0	.	14.0846	0.64947	0.0:0.0:1.0:0.0	.	137	O75333	TBX10_HUMAN	V	137	ENSP00000335191:A137V	ENSP00000335191:A137V	A	-	2	0	TBX10	67158375	1.000000	0.71417	0.990000	0.47175	0.927000	0.56198	5.323000	0.65858	1.839000	0.53478	0.305000	0.20034	GCG		0.647	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		69	330	0	0	0	1	0	69	330				
C12orf50	160419	broad.mit.edu	37	12	88380103	88380103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88380103G>T	ENST00000298699.2	-	10	1088	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	303										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGCATTCCAGAGTTAGGAAA	0.303																																						ENST00000298699.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(907-909)tCt>tAt		chromosome 12 open reading frame 50							106.0	106.0	106.0					12																	88380103		2203	4299	6502	SO:0001583	missense	160419							g.chr12:88380103G>T	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.908C>A	12.37:g.88380103G>T	ENSP00000298699:p.Ser303Tyr					C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	p.S303Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			10	1088	-			303					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.908C>A	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173542	0.38413	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.34275	1.38;1.37	6.01	6.01	0.97437	.	0.547279	0.19009	N	0.125123	T	0.42040	0.1185	L	0.44542	1.39	0.32994	D	0.525332	D;P	0.54964	0.969;0.874	P;B	0.47827	0.558;0.444	T	0.53933	-0.8368	10	0.72032	D	0.01	.	17.4379	0.87557	0.0:0.0:1.0:0.0	.	318;303	G3V208;Q8NA57	.;CL050_HUMAN	Y	303;264;318	ENSP00000298699:S303Y;ENSP00000448344:S264Y	ENSP00000298699:S303Y	S	-	2	0	C12orf50	86904234	0.980000	0.34600	0.891000	0.34965	0.048000	0.14542	2.849000	0.48286	2.861000	0.98227	0.650000	0.86243	TCT		0.303	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		41	296	1	0	4.17593e-13	1	4.50145e-13	41	296				
FTSJ1	24140	broad.mit.edu	37	X	48339583	48339583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48339583C>T	ENST00000348411.2	+	6	729	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F|FTSJ1_ENST00000019019.2_Missense_Mutation_p.L136F|FTSJ1_ENST00000496365.1_3'UTR	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCCAGCTCCTCCTAGCTGT	0.592																																						ENST00000019019.2																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(406-408)Ctc>Ttc		FtsJ RNA methyltransferase homolog 1 (E. coli)							109.0	78.0	89.0					X																	48339583		2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48339583C>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.406C>T	X.37:g.48339583C>T	ENSP00000326948:p.Leu136Phe					FTSJ1_ENST00000348411.2_Missense_Mutation_p.L136F|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Intron	p.L136F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN			7	835	+			136						Missense_Mutation	SNP	ENST00000348411.2	37	c.406C>T	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775117	0.49786	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.33654	1.4;1.4;1.4	4.47	4.47	0.54385	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.080390	0.51477	D	0.000087	T	0.59742	0.2216	M	0.80616	2.505	0.80722	D	1	D;P;D	0.69078	0.997;0.81;0.984	D;P;D	0.78314	0.991;0.875;0.949	T	0.65059	-0.6260	10	0.87932	D	0	-7.014	11.6808	0.51457	0.0:1.0:0.0:0.0	.	136;136;136	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	136	ENSP00000019019:L136F;ENSP00000326948:L136F;ENSP00000415457:L136F	ENSP00000019019:L136F	L	+	1	0	FTSJ1	48224527	1.000000	0.71417	0.964000	0.40570	0.016000	0.09150	4.594000	0.61041	2.241000	0.73720	0.507000	0.49892	CTC		0.592	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			34	107	0	0	0	1	0	34	107				
ZIC1	7545	broad.mit.edu	37	3	147131305	147131305	+	Silent	SNP	G	G	A	rs564229372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131305G>A	ENST00000282928.4	+	3	2040	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	437	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACAGTGCGCTCTCTTCCA	0.493																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1309-1311)gcG>gcA		Zic family member 1							97.0	89.0	92.0					3																	147131305		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131305G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1311G>A	3.37:g.147131305G>A							p.A437A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			3	2040	+			437			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1311G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	8.581	0.882233	0.17467	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.28	1.38	0.22167	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41342	-0.9514	4	.	.	.	.	7.1105	0.25388	0.0951:0.0:0.7362:0.1687	.	.	.	.	H	126	.	.	R	+	2	0	ZIC1	148613995	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.249000	0.51437	-0.041000	0.13558	-0.448000	0.05591	CGC		0.493	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		90	407	0	0	0	1	0	90	407				
SMTN	6525	broad.mit.edu	37	22	31494783	31494783	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31494783C>T	ENST00000347557.2	+	17	2508	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000333137.7_Missense_Mutation_p.R764C|SMTN_ENST00000404574.1_Missense_Mutation_p.R287C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	764					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTCCCAGGCGCGCAAGGCCAT	0.677																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(2290-2292)Cgc>Tgc		smoothelin							14.0	18.0	17.0					22																	31494783		2198	4289	6487	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31494783C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2290C>T	22.37:g.31494783C>T	ENSP00000328635:p.Arg764Cys					SMTN_ENST00000347557.2_Missense_Mutation_p.R764C|SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000404574.1_Missense_Mutation_p.R287C	p.R764C	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			17	2508	+			764					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.2290C>T	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626507	0.87560	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;D	0.94376	-0.51;-0.9;-0.9;1.41;-3.41	5.34	5.34	0.76211	.	0.000000	0.38272	N	0.001743	D	0.95306	0.8477	L	0.41492	1.28	0.80722	D	1	P;D;D;D;P;P;P;D	0.89917	0.936;0.971;1.0;1.0;0.828;0.876;0.828;0.962	P;P;D;D;B;P;B;P	0.83275	0.579;0.558;0.996;0.996;0.254;0.579;0.254;0.631	D	0.95709	0.8756	10	0.87932	D	0	-12.395	19.4284	0.94754	0.0:1.0:0.0:0.0	.	820;849;144;287;787;764;764;764	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	C	764;764;764;762;787;165;287;144	ENSP00000351593:R764C;ENSP00000328635:R764C;ENSP00000329532:R764C;ENSP00000392329:R165C;ENSP00000383919:R287C	ENSP00000329393:R762C	R	+	1	0	SMTN	29824783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.438000	0.59961	2.686000	0.91538	0.561000	0.74099	CGC		0.677	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		21	150	0	0	0	1	0	21	150				
SNX3	8724	broad.mit.edu	37	6	108535813	108535813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108535813G>A	ENST00000230085.8	-	3	610	c.272C>T	c.(271-273)cCg>cTg	p.P91L	SNX3_ENST00000426155.2_Missense_Mutation_p.P59L|SNX3_ENST00000349379.5_Missense_Mutation_p.P69L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	91	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		CCCAGGGAGCGGGGGAACTAC	0.423																																						ENST00000230085.8																			0				large_intestine(1)	1						c.(271-273)cCg>cTg		sorting nexin 3							52.0	50.0	51.0					6																	108535813		2203	4300	6503	SO:0001583	missense	8724				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding	g.chr6:108535813G>A	AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"""Sorting nexins"""	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.272C>T	6.37:g.108535813G>A	ENSP00000230085:p.Pro91Leu					SNX3_ENST00000349379.5_Missense_Mutation_p.P69L|SNX3_ENST00000426155.2_Missense_Mutation_p.P59L	p.P91L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)	3	610	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	91			PX.		A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Missense_Mutation	SNP	ENST00000230085.8	37	c.272C>T	CCDS5064.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320049	0.60634	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000349379	T;T;T	0.44083	0.93;0.93;0.93	5.16	5.16	0.70880	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.88450	2.955	0.80722	D	1	B;B	0.25486	0.101;0.127	B;B	0.32090	0.03;0.14	T	0.54846	-0.8232	10	0.87932	D	0	-15.6734	15.3802	0.74648	0.0:0.0:0.8601:0.1399	.	59;91	O60493-2;O60493	.;SNX3_HUMAN	L	91;59;69	ENSP00000230085:P91L;ENSP00000401779:P59L;ENSP00000296991:P69L	ENSP00000230085:P91L	P	-	2	0	SNX3	108642506	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	7.883000	0.87264	2.562000	0.86427	0.462000	0.41574	CCG		0.423	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1			6	182	0	0	0	1	0	6	182				
LRRC14	9684	broad.mit.edu	37	8	145745329	145745329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745329G>A	ENST00000292524.1	+	2	366	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	74										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCAGCCGTGCCCTCCTGCA	0.637																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(220-222)Gcc>Acc		leucine rich repeat containing 14							68.0	68.0	68.0					8																	145745329		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145745329G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.220G>A	8.37:g.145745329G>A	ENSP00000292524:p.Ala74Thr					LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T	p.A74T	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	366	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		74					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.220G>A	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712850	0.30413	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.45668	2.26;5.06;5.06;0.9;0.89	3.95	3.04	0.35103	.	0.430073	0.20711	N	0.087082	T	0.28699	0.0711	L	0.29908	0.895	0.31265	N	0.692394	B	0.25312	0.123	B	0.24974	0.057	T	0.22277	-1.0221	10	0.31617	T	0.26	.	9.7436	0.40433	0.1093:0.0:0.8907:0.0	.	74	Q15048	LRC14_HUMAN	T	74	ENSP00000436452:A74T;ENSP00000434768:A74T;ENSP00000292524:A74T;ENSP00000435985:A74T;ENSP00000434738:A74T	ENSP00000292524:A74T	A	+	1	0	LRRC14	145716137	0.178000	0.23122	0.996000	0.52242	0.939000	0.58152	1.659000	0.37387	2.052000	0.61016	0.462000	0.41574	GCC		0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		60	346	0	0	0	1	0	60	346				
SSBP4	170463	broad.mit.edu	37	19	18538218	18538218	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18538218G>A	ENST00000270061.7	+	2	411	c.117G>A	c.(115-117)caG>caA	p.Q39Q	SSBP4_ENST00000348495.6_Silent_p.Q39Q|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	39	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						AGTCAGCCCAGACCTTCCTGT	0.642																																						ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(115-117)caG>caA		single stranded DNA binding protein 4							56.0	49.0	52.0					19																	18538218		2202	4300	6502	SO:0001819	synonymous_variant	170463					nucleus	single-stranded DNA binding	g.chr19:18538218G>A		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.117G>A	19.37:g.18538218G>A						SSBP4_ENST00000348495.5_Silent_p.Q39Q	p.Q39Q	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			2	337	+			39			LisH.		Q9BWW5	Silent	SNP	ENST00000270061.7	37	c.117G>A	CCDS12378.1																																																																																				0.642	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		33	117	0	0	0	1	0	33	117				
ZNF639	51193	broad.mit.edu	37	3	179051598	179051598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179051598C>T	ENST00000326361.3	+	7	1291	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF639_ENST00000496856.1_Silent_p.T282T|ZNF639_ENST00000484866.1_Silent_p.T282T	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	282					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTGCAGACACCCATTTTAGTG	0.418																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(844-846)acC>acT		zinc finger protein 639							131.0	125.0	127.0					3																	179051598		2203	4300	6503	SO:0001819	synonymous_variant	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051598C>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.846C>T	3.37:g.179051598C>T						ZNF639_ENST00000496856.1_Silent_p.T282T|ZNF639_ENST00000484866.1_Silent_p.T282T	p.T282T	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1291	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		282					A9X3Z9|D3DNR3	Silent	SNP	ENST00000326361.3	37	c.846C>T	CCDS3227.1																																																																																				0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		74	419	0	0	0	1	0	74	419				
DHX37	57647	broad.mit.edu	37	12	125432718	125432718	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125432718G>A	ENST00000308736.2	-	26	3398	c.3300C>T	c.(3298-3300)ccC>ccT	p.P1100P	DHX37_ENST00000544745.1_Silent_p.P887P	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1100							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCTCCGTACGGGGCTGCAGCC	0.627																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3298-3300)ccC>ccT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							36.0	34.0	34.0					12																	125432718		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125432718G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3300C>T	12.37:g.125432718G>A						DHX37_ENST00000544745.1_Silent_p.P887P	p.P1100P	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	26	3398	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1100					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.3300C>T	CCDS9261.1																																																																																				0.627	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		25	171	0	0	0	1	0	25	171				
LATS1	9113	broad.mit.edu	37	6	149982884	149982884	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149982884C>T	ENST00000543571.1	-	8	3921	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TACTAGATCGCGATTTTTAAT	0.353																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(3373-3375)cGc>cAc		large tumor suppressor kinase 1							94.0	97.0	96.0					6																	149982884		2203	4299	6502	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149982884C>T	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3374G>A	6.37:g.149982884C>T	ENSP00000437550:p.Arg1125His					LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	p.R1125H	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3921	-		Ovarian(120;0.0164)	1125						Missense_Mutation	SNP	ENST00000543571.1	37	c.3374G>A	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348251	0.41599	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.54479	0.57;0.57	5.65	4.76	0.60689	.	0.131649	0.34700	N	0.003744	T	0.13841	0.0335	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10245	-1.0638	9	.	.	.	.	10.7066	0.45958	0.0:0.7956:0.1334:0.071	.	1125	O95835	LATS1_HUMAN	H	1125	ENSP00000437550:R1125H;ENSP00000253339:R1125H	.	R	-	2	0	LATS1	150024577	0.994000	0.37717	0.878000	0.34440	0.938000	0.57974	2.613000	0.46351	1.345000	0.45676	0.591000	0.81541	CGC		0.353	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		72	430	0	0	0	1	0	72	430				
FRY	10129	broad.mit.edu	37	13	32783857	32783857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32783857C>A	ENST00000380250.3	+	33	4907	c.4411C>A	c.(4411-4413)Ctc>Atc	p.L1471I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1471						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGACACAGTTCTCCTACCCTA	0.488																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(4411-4413)Ctc>Atc		furry homolog (Drosophila)							128.0	132.0	130.0					13																	32783857		1976	4145	6121	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783857C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4411C>A	13.37:g.32783857C>A	ENSP00000369600:p.Leu1471Ile						p.L1471I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	33	4907	+		Lung SC(185;0.0271)	1471					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4411C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196285	0.78902	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.29917	1.55	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64262	-0.6449	10	0.66056	D	0.02	.	19.3545	0.94407	0.0:1.0:0.0:0.0	.	1471	Q5TBA9	FRY_HUMAN	I	1471;308	ENSP00000369600:L1471I	ENSP00000369600:L1471I	L	+	1	0	FRY	31681857	1.000000	0.71417	0.882000	0.34594	0.924000	0.55760	4.636000	0.61339	2.592000	0.87571	0.561000	0.74099	CTC		0.488	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		58	254	1	0	4.6707e-30	1	5.47058e-30	58	254				
TBC1D10A	83874	broad.mit.edu	37	22	30689795	30689795	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30689795C>T	ENST00000215790.7	-	8	1060		c.e8-1		RP1-130H16.18_ENST00000447976.1_Splice_Site|TBC1D10A_ENST00000403477.3_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A						activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATCTTGACCCCTGCATGGGGG	0.612																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.e8-1		TBC1 domain family, member 10A							45.0	48.0	47.0					22																	30689795		2203	4300	6503	SO:0001630	splice_region_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30689795C>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.896-1G>A	22.37:g.30689795C>T						TBC1D10A_ENST00000403477.3_Splice_Site|RP1-130H16.18_ENST00000447976.1_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site		NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			8	1060	-								B3KXT8|O76053|Q20WK7|Q543A2	Splice_Site	SNP	ENST00000215790.7	37		CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279871	0.80692	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2857	0.90113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBC1D10A;RP1-130H16.18	29019795	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.037000	0.70956	2.746000	0.94184	0.561000	0.74099	.		0.612	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937	Intron	71	332	0	0	0	1	0	71	332				
NEB	4703	broad.mit.edu	37	2	152527556	152527556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152527556T>C	ENST00000172853.10	-	38	4634	c.4487A>G	c.(4486-4488)aAc>aGc	p.N1496S	NEB_ENST00000603639.1_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000397345.3_Missense_Mutation_p.N1496S|NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000427231.2_Missense_Mutation_p.N1496S			P20929	NEBU_HUMAN	nebulin	1496					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGCTTTGTGTTATGCTGAGC	0.468																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(4486-4488)aAc>aGc		nebulin							146.0	141.0	143.0					2																	152527556		2105	4219	6324	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152527556T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4487A>G	2.37:g.152527556T>C	ENSP00000172853:p.Asn1496Ser					NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000603639.1_Missense_Mutation_p.N1496S|NEB_ENST00000172853.10_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000427231.2_Missense_Mutation_p.N1496S	p.N1496S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	38	4689	-			1496					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.4487A>G		.	.	.	.	.	.	.	.	.	.	T	21.4	4.149237	0.78001	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05081	3.52;3.51;3.53;3.5	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.06625	-1.0816	10	0.06099	T	0.92	.	15.7745	0.78204	0.0:0.0:0.0:1.0	.	1496	P20929	NEBU_HUMAN	S	1496	ENSP00000386259:N1496S;ENSP00000380505:N1496S;ENSP00000416578:N1496S;ENSP00000172853:N1496S	ENSP00000172853:N1496S	N	-	2	0	NEB	152235802	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.068000	0.57534	2.174000	0.68829	0.533000	0.62120	AAC		0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		65	182	0	0	0	1	0	65	182				
RPTN	126638	broad.mit.edu	37	1	152128896	152128896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152128896C>T	ENST00000316073.3	-	3	743	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	227	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A227T(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CGATTTAAGGCAAAGATATGT	0.413																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.A227T(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(679-681)Gcc>Acc		repetin							235.0	199.0	210.0					1																	152128896		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128896C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.679G>A	1.37:g.152128896C>T	ENSP00000317895:p.Ala227Thr						p.A227T	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	743	-			227			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.679G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938550	0.52972	.	.	ENSG00000215853	ENST00000316073	T	0.12361	2.69	4.69	1.63	0.23807	.	.	.	.	.	T	0.03220	0.0094	L	0.58101	1.795	0.09310	N	1	P	0.40144	0.704	B	0.35859	0.212	T	0.35968	-0.9767	9	0.10111	T	0.7	-0.5711	2.3274	0.04226	0.1974:0.5017:0.191:0.11	.	227	Q6XPR3	RPTN_HUMAN	T	227	ENSP00000317895:A227T	ENSP00000317895:A227T	A	-	1	0	RPTN	150395520	1.000000	0.71417	0.975000	0.42487	0.376000	0.30014	1.303000	0.33470	2.146000	0.66826	0.442000	0.29010	GCC		0.413	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		289	892	0	0	0	1	0	289	892				
KDM4D	55693	broad.mit.edu	37	11	94731619	94731619	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731619G>A	ENST00000335080.5	+	3	1915	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	KDM4D_ENST00000536741.1_Silent_p.Q361Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	361					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGCACCCAGAAGGAAGTCC	0.622																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1081-1083)caG>caA		lysine (K)-specific demethylase 4D							55.0	47.0	50.0					11																	94731619		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731619G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1083G>A	11.37:g.94731619G>A						KDM4D_ENST00000536741.1_Silent_p.Q361Q	p.Q361Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	1915	+			361					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.1083G>A	CCDS8302.1																																																																																				0.622	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		37	186	0	0	0	1	0	37	186				
SAMD9	54809	broad.mit.edu	37	7	92732478	92732478	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732478T>C	ENST00000379958.2	-	3	3202	c.2933A>G	c.(2932-2934)tAc>tGc	p.Y978C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	978						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTCCACAGTAGTTCCCACA	0.393																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2932-2934)tAc>tGc		sterile alpha motif domain containing 9							128.0	124.0	126.0					7																	92732478		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92732478T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2933A>G	7.37:g.92732478T>C	ENSP00000369292:p.Tyr978Cys						p.Y978C	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3202	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		978					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2933A>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	1.823	-0.471728	0.04445	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.88	4.88	0.63580	.	0.437147	0.20801	N	0.085438	T	0.15609	0.0376	L	0.31752	0.955	0.23876	N	0.996594	P	0.43885	0.82	B	0.34652	0.187	T	0.17992	-1.0351	10	0.52906	T	0.07	-4.8748	8.1729	0.31264	0.0:0.0903:0.0:0.9097	.	978	Q5K651	SAMD9_HUMAN	C	978	ENSP00000369292:Y978C;ENSP00000414529:Y978C	ENSP00000369292:Y978C	Y	-	2	0	SAMD9	92570414	1.000000	0.71417	0.179000	0.23059	0.248000	0.25809	3.567000	0.53813	2.059000	0.61396	0.496000	0.49642	TAC		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		103	372	0	0	0	1	0	103	372				
RET	5979	broad.mit.edu	37	10	43596002	43596002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43596002C>T	ENST00000355710.3	+	2	401	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RET_ENST00000340058.5_Missense_Mutation_p.R57W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	57					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCATGCCCTGCGGGACGCCCC	0.622		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(169-171)Cgg>Tgg		ret proto-oncogene	Sunitinib(DB01268)						72.0	63.0	66.0					10																	43596002		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43596002C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.169C>T	10.37:g.43596002C>T	ENSP00000347942:p.Arg57Trp					RET_ENST00000340058.5_Missense_Mutation_p.R57W	p.R57W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			2	401	+		Ovarian(717;0.0423)	57					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.169C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154086	0.38021	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;D	0.81908	-1.42;-1.55	5.51	5.51	0.81932	.	0.511992	0.21682	N	0.070717	D	0.86619	0.5976	L	0.55481	1.735	0.30522	N	0.768312	D;D	0.89917	0.999;1.0	P;P	0.59288	0.72;0.855	D	0.85478	0.1177	10	0.87932	D	0	.	12.3445	0.55114	0.2805:0.7195:0.0:0.0	.	57;57	P07949;P07949-2	RET_HUMAN;.	W	57	ENSP00000347942:R57W;ENSP00000344798:R57W	ENSP00000344798:R57W	R	+	1	2	RET	42916008	0.742000	0.28228	0.049000	0.19019	0.003000	0.03518	1.347000	0.33975	2.605000	0.88082	0.655000	0.94253	CGG		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		50	260	0	0	0	1	0	50	260				
PLCE1	51196	broad.mit.edu	37	10	96022417	96022417	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022417T>C	ENST00000371380.3	+	13	4216	c.3981T>C	c.(3979-3981)ctT>ctC	p.L1327L	PLCE1_ENST00000371385.3_Silent_p.L1019L|PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000260766.3_Silent_p.L1327L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1327					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGGCATACTTCAGCTCAACG	0.478																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3979-3981)ctT>ctC		phospholipase C, epsilon 1							203.0	199.0	200.0					10																	96022417		2017	4189	6206	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96022417T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3981T>C	10.37:g.96022417T>C						PLCE1_ENST00000371380.2_Silent_p.L1327L|PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000371385.3_Silent_p.L1019L	p.L1327L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			14	4615	+		Colorectal(252;0.0458)	1327					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.3981T>C	CCDS41552.1																																																																																				0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		134	616	0	0	0	1	0	134	616				
YEATS2	55689	broad.mit.edu	37	3	183476677	183476677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183476677C>T	ENST00000305135.5	+	13	1775	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	527					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCTCCACGGCTTCTCAGGTC	0.363																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1579-1581)gCt>gTt		YEATS domain containing 2							137.0	124.0	128.0					3																	183476677		1831	4086	5917	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183476677C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1580C>T	3.37:g.183476677C>T	ENSP00000306983:p.Ala527Val						p.A527V	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		13	1775	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		527					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1580C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999576	0.35320	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30448	1.53	5.13	3.29	0.37713	.	0.457148	0.22061	N	0.065174	T	0.14700	0.0355	N	0.12182	0.205	0.28126	N	0.930405	B	0.06786	0.001	B	0.04013	0.001	T	0.10359	-1.0633	10	0.33141	T	0.24	-4.1989	5.6175	0.17440	0.0:0.6413:0.1918:0.1669	.	527	Q9ULM3	YETS2_HUMAN	V	527	ENSP00000306983:A527V	ENSP00000306983:A527V	A	+	2	0	YEATS2	184959371	0.739000	0.28196	0.954000	0.39281	0.987000	0.75469	1.212000	0.32394	1.146000	0.42352	0.585000	0.79938	GCT		0.363	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		68	427	0	0	0	1	0	68	427				
ANK2	287	broad.mit.edu	37	4	114158175	114158175	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158175G>T	ENST00000357077.4	+	6	569	c.516G>T	c.(514-516)caG>caT	p.Q172H	ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	172					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCACTCCAGCAAGGACACA	0.473																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(514-516)caG>caT		ankyrin 2, neuronal							133.0	129.0	131.0					4																	114158175		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114158175G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.516G>T	4.37:g.114158175G>T	ENSP00000349588:p.Gln172His					ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H	p.Q172H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	569	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	172					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.516G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072752	0.76415	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	T;T;T;T;T;T;T;T	0.65732	-0.17;0.6;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.57	3.79	0.43588	Ankyrin repeat-containing domain (4);	0.000000	0.48767	D	0.000163	T	0.66839	0.2830	L	0.28400	0.85	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;0.999;0.998	D;D;D;D;D	0.87578	0.998;0.917;0.998;0.99;0.953	T	0.69143	-0.5223	10	0.66056	D	0.02	.	10.8166	0.46580	0.2606:0.0:0.7394:0.0	.	172;172;172;151;151	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	151;151;151;187;172;172;172;151;37	ENSP00000423799:Q151H;ENSP00000421011:Q151H;ENSP00000421067:Q151H;ENSP00000424722:Q187H;ENSP00000378044:Q172H;ENSP00000349588:Q172H;ENSP00000264366:Q172H;ENSP00000421059:Q37H	ENSP00000264366:Q172H	Q	+	3	2	ANK2	114377624	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.724000	0.47285	1.453000	0.47775	0.650000	0.86243	CAG		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		92	485	1	0	4.05997e-52	1	5.04755e-52	92	485				
KIF2B	84643	broad.mit.edu	37	17	51901512	51901512	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901512A>T	ENST00000268919.4	+	1	1274	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	373	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAAGAAGAAGCTGCAAGTC	0.463																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1117-1119)aAg>aTg		kinesin family member 2B							121.0	111.0	115.0					17																	51901512		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901512A>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1118A>T	17.37:g.51901512A>T	ENSP00000268919:p.Lys373Met						p.K373M	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1274	+			373			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1118A>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101980	0.56183	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76316	-1.01	5.67	4.58	0.56647	Kinesin, motor domain (4);	0.141109	0.32028	N	0.006692	T	0.78033	0.4220	M	0.74258	2.255	0.41685	D	0.989313	B	0.32365	0.367	B	0.39771	0.309	T	0.79569	-0.1749	10	0.62326	D	0.03	.	7.866	0.29537	0.8597:0.0:0.1403:0.0	.	373	Q8N4N8	KIF2B_HUMAN	M	373;261	ENSP00000268919:K373M	ENSP00000268919:K373M	K	+	2	0	KIF2B	49256511	0.016000	0.18221	0.982000	0.44146	0.928000	0.56348	2.351000	0.44071	2.275000	0.75901	0.533000	0.62120	AAG		0.463	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		73	377	0	0	0	1	0	73	377				
ZNF493	284443	broad.mit.edu	37	19	21605913	21605913	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21605913G>T	ENST00000355504.4	+	2	334	c.68G>T	c.(67-69)aGc>aTc	p.S23I	ZNF493_ENST00000392288.2_Missense_Mutation_p.S151I|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ACTACCCAGAGCAAAATATTT	0.284																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(451-453)aGc>aTc		zinc finger protein 493							77.0	79.0	79.0					19																	21605913		2203	4293	6496	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21605913G>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.68G>T	19.37:g.21605913G>T	ENSP00000347691:p.Ser23Ile					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.S23I	p.S151I	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	561	+			23					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.452G>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.96	1.795162	0.31777	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.09817	3.21;2.94	0.916	0.916	0.19373	.	.	.	.	.	T	0.22085	0.0532	M	0.82323	2.585	0.24499	N	0.994266	B;D	0.53151	0.246;0.958	B;P	0.51229	0.064;0.663	T	0.08351	-1.0726	9	0.72032	D	0.01	.	7.1683	0.25704	0.0:0.0:1.0:0.0	.	23;151	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	I	151;23	ENSP00000376110:S151I;ENSP00000347691:S23I	ENSP00000347691:S23I	S	+	2	0	ZNF493	21397753	0.000000	0.05858	0.212000	0.23672	0.213000	0.24496	-3.047000	0.00630	0.300000	0.22699	0.305000	0.20034	AGC		0.284	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		91	384	1	0	6.83469e-46	1	8.38912e-46	91	384				
ZNF407	55628	broad.mit.edu	37	18	72775296	72775296	+	Silent	SNP	C	C	T	rs187401042		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775296C>T	ENST00000299687.5	+	8	5619	c.5619C>T	c.(5617-5619)gaC>gaT	p.D1873D		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGGCTACGACGGGGAGTTTG	0.687													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14592	0.0		0.0	False		,,,				2504	0.0					ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5617-5619)gaC>gaT		zinc finger protein 407							27.0	37.0	34.0					18																	72775296		2058	4187	6245	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775296C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5619C>T	18.37:g.72775296C>T							p.D1873D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5619	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1873					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5619C>T	CCDS45885.1																																																																																				0.687	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		65	210	0	0	0	1	0	65	210				
EPB41L4A	64097	broad.mit.edu	37	5	111598231	111598231	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111598231T>G	ENST00000261486.5	-	7	878	c.602A>C	c.(601-603)aAa>aCa	p.K201T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	201	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTCCAGGGATTTGGCAGTCCT	0.403																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(601-603)aAa>aCa		erythrocyte membrane protein band 4.1 like 4A							126.0	126.0	126.0					5																	111598231		1912	4116	6028	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111598231T>G	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.602A>C	5.37:g.111598231T>G	ENSP00000261486:p.Lys201Thr						p.K201T	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	7	878	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	201			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.602A>C	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021391	0.75275	.	.	ENSG00000129595	ENST00000261486	T	0.78481	-1.18	5.54	3.16	0.36331	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.101615	0.64402	D	0.000004	D	0.87819	0.6273	M	0.89030	3	0.37051	D	0.897587	D	0.89917	1.0	D	0.77557	0.99	D	0.88791	0.3278	10	0.87932	D	0	.	8.969	0.35894	0.0:0.1533:0.0:0.8467	.	201	Q9HCS5	E41LA_HUMAN	T	201	ENSP00000261486:K201T	ENSP00000261486:K201T	K	-	2	0	EPB41L4A	111626130	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	1.525000	0.35953	0.489000	0.27749	0.533000	0.62120	AAA		0.403	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			92	410	0	0	0	1	0	92	410				
QPCTL	54814	broad.mit.edu	37	19	46201906	46201906	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46201906G>A	ENST00000012049.5	+	4	956	c.735G>A	c.(733-735)caG>caA	p.Q245Q	QPCTL_ENST00000366382.4_Silent_p.Q151Q	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	245					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ACCTGGCCCAGCTCATGGAGT	0.622																																						ENST00000012049.5																			0				breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11						c.(733-735)caG>caA		glutaminyl-peptide cyclotransferase-like							36.0	40.0	39.0					19																	46201906		2203	4300	6503	SO:0001819	synonymous_variant	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46201906G>A	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.735G>A	19.37:g.46201906G>A						QPCTL_ENST00000366382.4_Silent_p.Q151Q	p.Q245Q	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	4	956	+		Ovarian(192;0.051)|all_neural(266;0.112)	245					Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	37	c.735G>A	CCDS12672.1																																																																																				0.622	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		44	218	0	0	0	1	0	44	218				
MKI67	4288	broad.mit.edu	37	10	129914033	129914033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129914033G>A	ENST00000368654.3	-	7	1014	c.639C>T	c.(637-639)agC>agT	p.S213S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	213					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCCATAACGGCTCACTAATT	0.388																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(637-639)agC>agT		marker of proliferation Ki-67							90.0	90.0	90.0					10																	129914033		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129914033G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.639C>T	10.37:g.129914033G>A						MKI67_ENST00000368653.3_Intron	p.S213S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1014	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	213					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.639C>T	CCDS7659.1																																																																																				0.388	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		64	304	0	0	0	1	0	64	304				
TTLL1	25809	broad.mit.edu	37	22	43459836	43459836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43459836C>T	ENST00000266254.7	-	7	970	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	TTLL1_ENST00000331018.7_Missense_Mutation_p.A244T	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	244	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCTGGATGGCGACGTTGGTG	0.532																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(730-732)Gcc>Acc		tubulin tyrosine ligase-like family, member 1							212.0	183.0	193.0					22																	43459836		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43459836C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.730G>A	22.37:g.43459836C>T	ENSP00000266254:p.Ala244Thr					TTLL1_ENST00000266254.7_Missense_Mutation_p.A244T	p.A244T			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	7	970	-		Ovarian(80;0.0694)	244			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.730G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910476	0.92107	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05855	3.38;3.38	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.66084	0.778;0.941	T	0.00258	-1.1871	10	0.87932	D	0	.	18.6172	0.91306	0.0:1.0:0.0:0.0	.	244;244	O95922-4;O95922	.;TTLL1_HUMAN	T	244	ENSP00000333734:A244T;ENSP00000266254:A244T	ENSP00000266254:A244T	A	-	1	0	TTLL1	41789780	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	7.458000	0.80787	2.837000	0.97791	0.591000	0.81541	GCC		0.532	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		88	393	0	0	0	1	0	88	393				
ZNF816	125893	broad.mit.edu	37	19	53453322	53453322	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53453322T>G	ENST00000357666.4	-	5	2006	c.1706A>C	c.(1705-1707)aAa>aCa	p.K569T	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.K569T|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CTTCGCACATTTATTACACTT	0.388																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1705-1707)aAa>aCa		zinc finger protein 816							68.0	70.0	69.0					19																	53453322		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453322T>G	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1706A>C	19.37:g.53453322T>G	ENSP00000350295:p.Lys569Thr					ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.K569T	p.K569T	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	2006	-			569					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.1706A>C	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	6.005	0.369381	0.11352	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.35605	1.3;1.3	1.79	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	N	0.10972	0.075	0.19945	N	0.999943	P	0.40066	0.701	B	0.42738	0.396	T	0.11743	-1.0575	9	0.87932	D	0	.	6.8252	0.23878	0.0:0.0:0.0:1.0	.	569	Q0VGE8	ZN816_HUMAN	T	569	ENSP00000350295:K569T;ENSP00000403266:K569T	ENSP00000350295:K569T	K	-	2	0	ZNF816	58145134	0.000000	0.05858	0.728000	0.30774	0.315000	0.28087	0.166000	0.16583	0.800000	0.34041	0.172000	0.16884	AAA		0.388	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		50	403	0	0	0	1	0	50	403				
MACF1	23499	broad.mit.edu	37	1	39797612	39797612	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39797612T>C	ENST00000372915.3	+	36	5454	c.5367T>C	c.(5365-5367)ctT>ctC	p.L1789L	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000564288.1_Silent_p.L1784L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1789					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACACAGACTTACAGTGGAAG	0.478																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(5350-5352)ctT>ctC		microtubule-actin crosslinking factor 1							103.0	102.0	103.0					1																	39797612		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797612T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5367T>C	1.37:g.39797612T>C						MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000372915.3_Silent_p.L1789L|MACF1_ENST00000361689.2_Intron	p.L1784L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	6129	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1789					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.5352T>C																																																																																					0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	313	0	0	0	1	0	21	313				
CDK5RAP3	80279	broad.mit.edu	37	17	46052879	46052879	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46052879G>A	ENST00000338399.4	+	7	619		c.e7-1		RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CCCCTCTCTAGGGCGAAAATG	0.572																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.e7-1		CDK5 regulatory subunit associated protein 3							50.0	54.0	52.0					17																	46052879		2075	4219	6294	SO:0001630	splice_region_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46052879G>A	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.514-1G>A	17.37:g.46052879G>A						CDK5RAP3_ENST00000338399.4_Splice_Site		NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			7	697	+								B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	37		CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475090	0.43942	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9577	0.89074	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43407878	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	8.986000	0.93492	2.547000	0.85894	0.655000	0.94253	.		0.572	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Intron	62	268	0	0	0	1	0	62	268				
CYP27C1	339761	broad.mit.edu	37	2	127958808	127958808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:127958808C>T	ENST00000335247.7	-	3	408	c.278G>A	c.(277-279)aGc>aAc	p.S93N	CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	93						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTTGAACATGCTAAACATGAG	0.562																																						ENST00000335247.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16						c.(277-279)aGc>aAc		cytochrome P450, family 27, subfamily C, polypeptide 1							116.0	115.0	116.0					2																	127958808		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127958808C>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.278G>A	2.37:g.127958808C>T	ENSP00000334128:p.Ser93Asn					CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	p.S93N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	3	408	-	Colorectal(110;0.1)		93					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.278G>A	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943301	0.73672	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.69175	-0.38;-0.38	3.74	3.74	0.42951	.	0.047866	0.85682	D	0.000000	T	0.62466	0.2430	N	0.20845	0.615	0.44852	D	0.997866	D	0.56287	0.975	P	0.52856	0.711	T	0.65340	-0.6192	10	0.39692	T	0.17	-15.14	15.8937	0.79322	0.0:1.0:0.0:0.0	.	93	Q4G0S4	C27C1_HUMAN	N	93	ENSP00000334128:S93N;ENSP00000387198:S93N	ENSP00000334128:S93N	S	-	2	0	CYP27C1	127675278	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	6.364000	0.73086	1.797000	0.52628	0.561000	0.74099	AGC		0.562	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		101	541	0	0	0	1	0	101	541				
NCAPD2	9918	broad.mit.edu	37	12	6618917	6618917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6618917G>A	ENST00000315579.5	+	3	961	c.162G>A	c.(160-162)ctG>ctA	p.L54L	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.W29*|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	54	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGGGCCCCTGGCTATGCTGC	0.413																																						ENST00000545962.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(85-87)tGg>tAg		non-SMC condensin I complex, subunit D2							158.0	161.0	160.0					12																	6618917		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6618917G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.162G>A	12.37:g.6618917G>A						NCAPD2_ENST00000315579.5_Silent_p.L54L	p.W29*			Q15021	CND1_HUMAN			3	241	+			0			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	ENST00000315579.5	37	c.86G>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499784	0.44455	.	.	ENSG00000010292	ENST00000545962	.	.	.	5.41	-0.64	0.11493	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9232	4.2976	0.10910	0.0708:0.1993:0.3311:0.3987	.	.	.	.	X	29	.	.	W	+	2	0	NCAPD2	6489178	0.999000	0.42202	0.948000	0.38648	0.289000	0.27227	0.731000	0.26058	0.204000	0.20548	0.555000	0.69702	TGG		0.413	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		47	960	0	0	0	1	0	47	960				
LENG8	114823	broad.mit.edu	37	19	54969152	54969152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54969152G>A	ENST00000326764.5	+	13	2352	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	588										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGAGGTGTACGAGACCCATGC	0.667																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1873-1875)Gag>Aag		leukocyte receptor cluster (LRC) member 8							65.0	71.0	69.0					19																	54969152		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969152G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1873G>A	19.37:g.54969152G>A	ENSP00000318374:p.Glu625Lys					LENG8_ENST00000376514.2_Intron	p.E625K	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	13	2352	+	Ovarian(34;0.19)		588					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1873G>A	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524366	0.96431	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.39229	1.09;1.09;1.09	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.89840	3.065	0.80722	D	1	P;P	0.52170	0.951;0.918	P;B	0.48552	0.581;0.432	T	0.71981	-0.4428	10	0.87932	D	0	-27.9672	16.5215	0.84318	0.0:0.0:1.0:0.0	.	625;588	Q96PV6-2;F8W9Q9	.;.	K	625;588;588;625	ENSP00000318374:E625K;ENSP00000365709:E588K;ENSP00000388053:E625K	ENSP00000301196:E588K	E	+	1	0	LENG8	59660964	1.000000	0.71417	0.988000	0.46212	0.829000	0.46940	8.587000	0.90810	2.582000	0.87167	0.561000	0.74099	GAG		0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		67	280	0	0	0	1	0	67	280				
THSD7A	221981	broad.mit.edu	37	7	11457220	11457220	+	Missense_Mutation	SNP	T	T	G	rs372785004	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11457220T>G	ENST00000423059.4	-	17	3645	c.3394A>C	c.(3394-3396)Aat>Cat	p.N1132H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1132	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGCTGTATTCTGCATGCAT	0.418										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3394-3396)Aat>Cat		thrombospondin, type I, domain containing 7A		T	HIS/ASN	0,3760		0,0,1880	98.0	93.0	95.0		3394	5.4	1.0	7		95	1,8217		0,1,4108	no	missense	THSD7A	NM_015204.2	68	0,1,5988	GG,GT,TT		0.0122,0.0,0.0083	probably-damaging	1132/1658	11457220	1,11977	1880	4109	5989	SO:0001583	missense	221981					integral to membrane		g.chr7:11457220T>G		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3394A>C	7.37:g.11457220T>G	ENSP00000406482:p.Asn1132His	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.N1132H	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	17	3645	-			1132			TSP type-1 11.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3394A>C	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213011	0.79352	0.0	1.22E-4	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60672	0.17	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.81239	2.535	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	T	0.76955	-0.2767	10	0.39692	T	0.17	.	15.3575	0.74440	0.0:0.0:0.0:1.0	.	1132	Q9UPZ6	THS7A_HUMAN	H	1132	ENSP00000406482:N1132H	ENSP00000262042:N1132H	N	-	1	0	THSD7A	11423745	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.031000	0.88826	2.038000	0.60285	0.533000	0.62120	AAT		0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		31	190	0	0	0	1	0	31	190				
ZNF354C	30832	broad.mit.edu	37	5	178506423	178506423	+	Silent	SNP	C	C	T	rs373125160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178506423C>T	ENST00000315475.6	+	5	1296	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C330C(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTATAAATGCGGCGAATGTG	0.433																																						ENST00000315475.6																			1	Substitution - coding silent(1)	p.C330C(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(988-990)tgC>tgT		zinc finger protein 354C		C		0,4406		0,0,2203	171.0	181.0	178.0		990	0.2	0.2	5		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF354C	NM_014594.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		330/555	178506423	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506423C>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.990C>T	5.37:g.178506423C>T							p.C330C	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1296	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	330					Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.990C>T	CCDS4443.1																																																																																				0.433	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			196	1060	0	0	0	1	0	196	1060				
ADAM33	80332	broad.mit.edu	37	20	3660157	3660157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3660157G>A	ENST00000356518.2	-	2	400	c.159C>T	c.(157-159)acC>acT	p.T53T	ADAM33_ENST00000350009.2_Silent_p.T53T|ADAM33_ENST00000379861.4_Silent_p.T53T	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	53					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCAGGCTGACGGTGCGCCAGG	0.622																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(157-159)acC>acT		ADAM metallopeptidase domain 33							32.0	30.0	31.0					20																	3660157		2201	4300	6501	SO:0001819	synonymous_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3660157G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.159C>T	20.37:g.3660157G>A						ADAM33_ENST00000350009.2_Silent_p.T53T|ADAM33_ENST00000379861.4_Silent_p.T53T	p.T53T	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			2	400	-			53					A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	c.159C>T	CCDS13058.1																																																																																				0.622	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		20	72	0	0	0	1	0	20	72				
CCR6	1235	broad.mit.edu	37	6	167550300	167550300	+	Silent	SNP	C	C	T	rs201679638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167550300C>T	ENST00000341935.5	+	3	1134	c.582C>T	c.(580-582)agC>agT	p.S194S	CCR6_ENST00000349984.4_Silent_p.S194S|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.S194S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	194					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCCAAGGCAGCGATGTCTGTG	0.493																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(580-582)agC>agT		chemokine (C-C motif) receptor 6							113.0	102.0	106.0					6																	167550300		2203	4300	6503	SO:0001819	synonymous_variant	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550300C>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.582C>T	6.37:g.167550300C>T						CCR6_ENST00000400926.2_Silent_p.S194S|CCR6_ENST00000349984.4_Silent_p.S194S	p.S194S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1134	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	194					E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	c.582C>T	CCDS5298.1																																																																																				0.493	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			96	361	0	0	0	1	0	96	361				
FN1	2335	broad.mit.edu	37	2	216257885	216257885	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216257885C>T	ENST00000359671.1	-	25	4062				FN1_ENST00000356005.4_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.D1280N|FN1_ENST00000354785.4_Missense_Mutation_p.D1280N|FN1_ENST00000432072.2_Missense_Mutation_p.D1280N|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000336916.4_Intron			P02751	FINC_HUMAN	fibronectin 1						acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.D1280N(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATGCTTGAATCGGTTATATCA	0.468																																						ENST00000354785.4																		FN1/ALK(2)	1	Substitution - Missense(1)	p.D1280N(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3838-3840)Gat>Aat		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						80.0	79.0	79.0					2																	216257885		1868	4096	5964	SO:0001627	intron_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216257885C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3797-1348G>A	2.37:g.216257885C>T						FN1_ENST00000359671.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000432072.2_Missense_Mutation_p.D1280N|FN1_ENST00000346544.3_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.D1280N	p.D1280N			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	25	4207	-		Renal(323;0.127)	1280			Cell-attachment.|Fibronectin type-III 8.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3838G>A		.	.	.	.	.	.	.	.	.	.	C	26.0	4.691151	0.88735	.	.	ENSG00000115414	ENST00000323926;ENST00000354785;ENST00000265313;ENST00000432072	T;T;T	0.57107	0.42;0.42;0.42	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.71367	0.3331	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.997	D;D;D;D	0.91635	0.974;0.999;0.992;0.97	T	0.65438	-0.6168	10	0.33141	T	0.24	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1280;1280;1280;1280	P02751-13;P02751-7;E7ERA1;P02751-15	.;.;.;.	N	1280	ENSP00000323534:D1280N;ENSP00000346839:D1280N;ENSP00000399538:D1280N	ENSP00000265313:D1280N	D	-	1	0	FN1	215966130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.384000	0.79751	2.861000	0.98227	0.655000	0.94253	GAT		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		45	287	0	0	0	1	0	45	287				
MAU2	23383	broad.mit.edu	37	19	19454678	19454678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19454678C>T	ENST00000392313.6	+	10	1185	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*	MAU2_ENST00000262815.8_Nonsense_Mutation_p.Q336*	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	336					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GTCATCCTTCCAAGTGATCCT	0.637																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1006-1008)Caa>Taa		MAU2 sister chromatid cohesion factor							108.0	108.0	108.0					19																	19454678		2130	4244	6374	SO:0001587	stop_gained	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19454678C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1006C>T	19.37:g.19454678C>T	ENSP00000376127:p.Gln336*					MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Nonsense_Mutation_p.Q336*	p.Q336*	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			10	1052	+			336					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Nonsense_Mutation	SNP	ENST00000392313.6	37	c.1006C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	38	7.116730	0.98074	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	17.3016	0.87183	0.0:1.0:0.0:0.0	.	.	.	.	X	336	.	ENSP00000262815:Q336X	Q	+	1	0	MAU2	19315678	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.475000	0.81041	2.435000	0.82474	0.561000	0.74099	CAA		0.637	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		151	606	0	0	0	1	0	151	606				
HECW1	23072	broad.mit.edu	37	7	43484963	43484963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484963C>T	ENST00000395891.2	+	11	2797	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	HECW1_ENST00000453890.1_Missense_Mutation_p.T731M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	731					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCGAGAGCACGGTCTTCTCC	0.632																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2191-2193)aCg>aTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							70.0	76.0	74.0					7																	43484963		2134	4233	6367	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484963C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2192C>T	7.37:g.43484963C>T	ENSP00000379228:p.Thr731Met					HECW1_ENST00000453890.1_Missense_Mutation_p.T731M	p.T731M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2797	+			731					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2192C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543382	0.86022	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.46819	1.3;0.86	4.62	4.62	0.57501	.	0.419197	0.26812	N	0.022366	T	0.60495	0.2273	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.63844	-0.6545	10	0.56958	D	0.05	.	17.4549	0.87604	0.0:1.0:0.0:0.0	.	731;731	B4DH42;Q76N89	.;HECW1_HUMAN	M	731	ENSP00000379228:T731M;ENSP00000407774:T731M	ENSP00000265522:T731M	T	+	2	0	HECW1	43451488	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	7.567000	0.82357	2.106000	0.64143	0.591000	0.81541	ACG		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		29	606	0	0	0	1	0	29	606				
KRT83	3889	broad.mit.edu	37	12	52710773	52710773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52710773G>T	ENST00000293670.3	-	5	847	c.785C>A	c.(784-786)aCc>aAc	p.T262N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	262	Linker 12.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCACGGAGGTGTCTGAGAT	0.547																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(784-786)aCc>aAc		keratin 83							148.0	129.0	135.0					12																	52710773		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710773G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.785C>A	12.37:g.52710773G>T	ENSP00000293670:p.Thr262Asn						p.T262N	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	847	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		262			Linker 12.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.785C>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886649	0.72410	.	.	ENSG00000170523	ENST00000293670	T	0.77229	-1.08	3.9	3.0	0.34707	Filament (1);	0.164011	0.28332	U	0.015740	D	0.89646	0.6775	H	0.95504	3.68	0.39581	D	0.969431	P	0.49559	0.925	P	0.61658	0.892	D	0.91465	0.5192	10	0.87932	D	0	.	11.594	0.50962	0.0897:0.0:0.9103:0.0	.	262	P78385	KRT83_HUMAN	N	262	ENSP00000293670:T262N	ENSP00000293670:T262N	T	-	2	0	KRT83	50997040	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	5.582000	0.67477	0.763000	0.33175	0.561000	0.74099	ACC		0.547	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		95	416	1	0	6.51614e-51	1	8.07965e-51	95	416				
CCDC106	29903	broad.mit.edu	37	19	56160870	56160870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56160870G>A	ENST00000586790.1	+	3	1137	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H|CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	78						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTGCAGAAGCGCATCGAGGAC	0.607																																						ENST00000586790.1																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(232-234)cGc>cAc		coiled-coil domain containing 106							73.0	65.0	68.0					19																	56160870		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56160870G>A	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.233G>A	19.37:g.56160870G>A	ENSP00000465757:p.Arg78His					CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H|CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H	p.R78H			Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	3	1137	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	78					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.233G>A	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717725	0.89205	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.48642	1.525	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	T	0.72147	-0.4378	9	0.66056	D	0.02	-7.3931	14.0108	0.64495	0.0:0.0:1.0:0.0	.	78	Q9BWC9	CC106_HUMAN	H	78	.	ENSP00000309681:R78H	R	+	2	0	CCDC106	60852682	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.256000	0.72473	1.910000	0.55303	0.462000	0.41574	CGC		0.607	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		41	173	0	0	0	1	0	41	173				
KIF20B	9585	broad.mit.edu	37	10	91477381	91477381	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91477381G>A	ENST00000371728.3	+	11	1238	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KIF20B_ENST00000260753.4_Silent_p.Q391Q|KIF20B_ENST00000416354.1_Silent_p.Q391Q|KIF20B_ENST00000394289.2_Silent_p.Q391Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	391	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGAAGACACAGAATGAAGGTG	0.313																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1171-1173)caG>caA		kinesin family member 20B							124.0	134.0	131.0					10																	91477381		2203	4300	6503	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91477381G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1173G>A	10.37:g.91477381G>A						KIF20B_ENST00000394289.2_Silent_p.Q391Q|KIF20B_ENST00000371728.3_Silent_p.Q391Q|KIF20B_ENST00000260753.4_Silent_p.Q391Q	p.Q391Q			Q96Q89	KI20B_HUMAN			11	1245	+			391			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.1173G>A																																																																																					0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		101	396	0	0	0	1	0	101	396				
TTN	7273	broad.mit.edu	37	2	179575601	179575601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179575601G>T	ENST00000591111.1	-	96	27496	c.27272C>A	c.(27271-27273)gCt>gAt	p.A9091D	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9408D|TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13223	Ig-like 74.				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)	p.A8164V(1)		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)			TCCCACCACAGCATCCACAGG	0.517																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.A8164V(1)	large_intestine(1)	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.(28222-28224)gCt>gAt		titin							92.0	89.0	90.0					2																	179575601		2001	4165	6166	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575601G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27272C>A	2.37:g.179575601G>T	ENSP00000465570:p.Ala9091Asp					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9091D	p.A9408D	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)		98	28447	-			9091			Ig-like 77.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.28223C>A		.	.	.	.	.	.	.	.	.	.	G	13.24	2.176958	0.38413	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.06	4.24	0.50183	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74928	0.3781	M	0.86268	2.805	0.80722	D	1	P	0.51933	0.949	P	0.52386	0.697	T	0.78006	-0.2373	9	0.87932	D	0	.	7.2784	0.26297	0.2053:0.1317:0.663:0.0	.	9091	Q8WZ42	TITIN_HUMAN	D	8164	ENSP00000343764:A8164D	ENSP00000343764:A8164D	A	-	2	0	TTN	179283846	0.982000	0.34865	0.997000	0.53966	0.980000	0.70556	2.270000	0.43355	1.565000	0.49641	0.655000	0.94253	GCT		0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		60	379	1	0	8.77104e-35	1	1.04431e-34	60	379				
NCAM2	4685	broad.mit.edu	37	21	22658710	22658710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22658710G>A	ENST00000400546.1	+	4	708	c.459G>A	c.(457-459)gaG>gaA	p.E153E	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.E178E|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	153	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATCATAATGAGGAAGTCACCA	0.388																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(457-459)gaG>gaA		neural cell adhesion molecule 2							129.0	121.0	124.0					21																	22658710		2004	4172	6176	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658710G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.459G>A	21.37:g.22658710G>A						NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Silent_p.E178E|NCAM2_ENST00000486367.1_3'UTR	p.E153E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	708	+		Lung NSC(9;0.195)	153			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.459G>A	CCDS42910.1																																																																																				0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		42	237	0	0	0	1	0	42	237				
NTRK2	4915	broad.mit.edu	37	9	87482309	87482309	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87482309C>T	ENST00000323115.4	+	12	1901	c.1548C>T	c.(1546-1548)taC>taT	p.Y516Y	NTRK2_ENST00000304053.6_Silent_p.Y532Y|NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y|NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	516		Interaction with SHC1. {ECO:0000250}.			activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ATCCCCAGTACTTTGGCATCA	0.448										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(1594-1596)taC>taT		neurotrophic tyrosine kinase, receptor, type 2							213.0	180.0	191.0					9																	87482309		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87482309C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1548C>T	9.37:g.87482309C>T		TSP Lung(25;0.17)				NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000323115.4_Silent_p.Y516Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y	p.Y532Y	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			14	2079	+			516					B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.1596C>T	CCDS35050.1																																																																																				0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			119	664	0	0	0	1	0	119	664				
CSPG4	1464	broad.mit.edu	37	15	75980460	75980460	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980460A>G	ENST00000308508.5	-	3	3038	c.2946T>C	c.(2944-2946)gaT>gaC	p.D982D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	982	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGGATATCATCTTCTGTGG	0.572																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2944-2946)gaT>gaC		chondroitin sulfate proteoglycan 4							84.0	88.0	87.0					15																	75980460		2197	4293	6490	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980460A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2946T>C	15.37:g.75980460A>G							p.D982D	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3038	-			982			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2946T>C	CCDS10284.1																																																																																				0.572	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		133	544	0	0	0	1	0	133	544				
FHDC1	85462	broad.mit.edu	37	4	153897279	153897279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897279C>T	ENST00000511601.1	+	12	3024	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	946									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAACTCCGTGCGGAGGGCCTC	0.716																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2836-2838)Cgg>Tgg		FH2 domain containing 1							18.0	20.0	19.0					4																	153897279		2203	4292	6495	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897279C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2836C>T	4.37:g.153897279C>T	ENSP00000427567:p.Arg946Trp					FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W	p.R946W			Q9C0D6	FHDC1_HUMAN			12	3024	+	all_hematologic(180;0.093)		946						Missense_Mutation	SNP	ENST00000511601.1	37	c.2836C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485608	0.44147	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41065	1.01;1.01	5.7	-11.4	0.00090	.	7.299360	0.01545	U	0.019398	T	0.51770	0.1694	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.56088	0.791	T	0.69363	-0.5165	10	0.62326	D	0.03	.	27.3211	0.99998	0.1909:0.8091:0.0:0.0	.	946	Q9C0D6	FHDC1_HUMAN	W	946	ENSP00000427567:R946W;ENSP00000260008:R946W	ENSP00000260008:R946W	R	+	1	2	FHDC1	154116729	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	-2.584000	0.00460	-1.014000	0.02459	CGG		0.716	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		23	168	0	0	0	1	0	23	168				
ZNF85	7639	broad.mit.edu	37	19	21132513	21132513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132513A>G	ENST00000328178.8	+	4	1306	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C|ZNF85_ENST00000601023.1_Missense_Mutation_p.Y339C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	398					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCTTACAAATGTAAA	0.328																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(1015-1017)tAc>tGc		zinc finger protein 85							31.0	34.0	33.0					19																	21132513		2199	4293	6492	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132513A>G	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1193A>G	19.37:g.21132513A>G	ENSP00000329793:p.Tyr398Cys					ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C|ZNF85_ENST00000328178.8_Missense_Mutation_p.Y398C	p.Y339C			Q03923	ZNF85_HUMAN			2	1662	+			398					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1016A>G	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	2.088	-0.409035	0.04799	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41259	0.1151	M	0.70903	2.155	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.995;0.955	T	0.21999	-1.0229	9	0.66056	D	0.02	.	2.1393	0.03771	0.5521:0.0:0.193:0.2549	.	365;339;398	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	398;365;273	ENSP00000329793:Y398C;ENSP00000342340:Y365C	ENSP00000329793:Y398C	Y	+	2	0	ZNF85	20924353	0.000000	0.05858	0.038000	0.18304	0.086000	0.17979	-0.339000	0.07832	0.569000	0.29329	0.379000	0.24179	TAC		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		14	125	0	0	0	1	0	14	125				
QRICH1	54870	broad.mit.edu	37	3	49084009	49084009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49084009C>T	ENST00000395443.2	-	5	1992	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	507						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCAGTTGGCGCCCTGCAAC	0.512																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1519-1521)cGc>cAc		glutamine-rich 1							64.0	57.0	59.0					3																	49084009		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49084009C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1520G>A	3.37:g.49084009C>T	ENSP00000378830:p.Arg507His					QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H|QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H	p.R507H	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	1992	-			507					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1520G>A	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518919	0.96416	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78607	-0.2138	9	0.66056	D	0.02	-2.5307	20.1663	0.98152	0.0:1.0:0.0:0.0	.	507	Q2TAL8	QRIC1_HUMAN	H	507	.	ENSP00000350094:R507H	R	-	2	0	QRICH1	49059013	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.209000	0.77916	2.773000	0.95371	0.585000	0.79938	CGC		0.512	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		50	254	0	0	0	1	0	50	254				
PHIP	55023	broad.mit.edu	37	6	79692681	79692681	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79692681C>T	ENST00000275034.4	-	23	2858	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	897	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ttttcttttcctttttaatct	0.308																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2689-2691)aaG>aaA		pleckstrin homology domain interacting protein							70.0	66.0	68.0					6																	79692681		2203	4299	6502	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79692681C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2691G>A	6.37:g.79692681C>T							p.K897K	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	23	2858	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	897			Lys-rich.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.2691G>A	CCDS4987.1																																																																																				0.308	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			27	157	0	0	0	1	0	27	157				
ASPH	444	broad.mit.edu	37	8	62460657	62460657	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62460657T>G	ENST00000379454.4	-	21	1924	c.1737A>C	c.(1735-1737)aaA>aaC	p.K579N	ASPH_ENST00000541428.1_Missense_Mutation_p.K550N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	579					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGCCCGTTTCTTTTGGGGTCC	0.433																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1648-1650)aaA>aaC		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						182.0	157.0	166.0					8																	62460657		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62460657T>G	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1737A>C	8.37:g.62460657T>G	ENSP00000368767:p.Lys579Asn					ASPH_ENST00000379454.4_Missense_Mutation_p.K579N	p.K550N	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			21	1810	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	579					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1650A>C	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799417	0.50208	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.33654	1.41;1.4	5.69	-7.0	0.01599	.	0.258295	0.43416	D	0.000564	T	0.23727	0.0574	L	0.50333	1.59	0.58432	D	0.999997	B;P	0.48694	0.11;0.914	B;B	0.38296	0.066;0.27	T	0.34304	-0.9834	10	0.59425	D	0.04	-11.8603	11.6338	0.51192	0.093:0.6261:0.0:0.2809	.	550;579	F5H667;Q12797	.;ASPH_HUMAN	N	550;579	ENSP00000437864:K550N;ENSP00000368767:K579N	ENSP00000368767:K579N	K	-	3	2	ASPH	62623211	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-1.637000	0.02015	-1.314000	0.02300	0.528000	0.53228	AAA		0.433	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		141	582	0	0	0	1	0	141	582				
SPTBN4	57731	broad.mit.edu	37	19	41063119	41063119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41063119C>A	ENST00000352632.3	+	26	5566	c.5480C>A	c.(5479-5481)gCc>gAc	p.A1827D	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1827					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACACGGGCCCAGCTGCTG	0.647																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5479-5481)gCc>gAc		spectrin, beta, non-erythrocytic 4							25.0	28.0	27.0					19																	41063119		2203	4298	6501	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063119C>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5480C>A	19.37:g.41063119C>A	ENSP00000263373:p.Ala1827Asp					SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D	p.A1827D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5566	+			1827					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5480C>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773259	0.69992	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	3.63	3.63	0.41609	.	0.090141	0.42172	D	0.000757	T	0.53769	0.1817	L	0.40543	1.245	0.38408	D	0.94585	D;D;D;P	0.71674	0.979;0.957;0.998;0.949	P;P;D;P	0.66497	0.815;0.693;0.944;0.83	T	0.49916	-0.8888	10	0.13470	T	0.59	.	14.5979	0.68419	0.0:1.0:0.0:0.0	.	570;503;1827;1827	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	D	1827;1827;1827;570;503	ENSP00000263373:A1827D;ENSP00000340345:A1827D;ENSP00000375879:A570D;ENSP00000375877:A503D	ENSP00000340345:A1827D	A	+	2	0	SPTBN4	45754959	0.002000	0.14202	0.999000	0.59377	0.989000	0.77384	1.157000	0.31724	2.036000	0.60181	0.455000	0.32223	GCC		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			60	214	1	0	4.96213e-28	1	5.76155e-28	60	214				
PEX3	8504	broad.mit.edu	37	6	143780343	143780343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143780343C>T	ENST00000367591.4	+	2	258	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	65					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAGGACTTGCAATATGACAG	0.378																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(193-195)tgC>tgT		peroxisomal biogenesis factor 3							118.0	115.0	116.0					6																	143780343		2203	4300	6503	SO:0001819	synonymous_variant	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143780343C>T	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.195C>T	6.37:g.143780343C>T							p.C65C	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	2	258	+			65					Q6FGP5	Silent	SNP	ENST00000367591.4	37	c.195C>T	CCDS5199.1																																																																																				0.378	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			121	488	0	0	0	1	0	121	488				
LMX1B	4010	broad.mit.edu	37	9	129455510	129455510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129455510C>T	ENST00000373474.4	+	4	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	217					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGGACCCGCGGAGGCCCAA	0.652									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(649-651)Cgg>Tgg		LIM homeobox transcription factor 1, beta							37.0	39.0	38.0					9																	129455510		2202	4300	6502	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455510C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.649C>T	9.37:g.129455510C>T	ENSP00000362573:p.Arg217Trp					LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000373474.4_Missense_Mutation_p.R217W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W	p.R217W	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			4	656	+			194					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.649C>T	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279243	0.59758	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.96011	-1.12;-1.12;-3.88;-1.12	4.97	-1.69	0.08186	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	L	0.51422	1.61	0.53688	D	0.999971	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.68483	0.881;0.849;0.958	D	0.94502	0.7710	10	0.87932	D	0	.	15.8126	0.78576	0.6922:0.3078:0.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	W	217;217;217;194	ENSP00000436930:R217W;ENSP00000362573:R217W;ENSP00000347684:R217W;ENSP00000390923:R194W	ENSP00000347684:R217W	R	+	1	2	LMX1B	128495331	0.003000	0.15002	0.077000	0.20336	0.916000	0.54674	0.098000	0.15189	-0.133000	0.11537	-1.797000	0.00622	CGG		0.652	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			7	78	0	0	0	1	0	7	78				
TANC1	85461	broad.mit.edu	37	2	160086401	160086401	+	Silent	SNP	C	C	T	rs369072086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160086401C>T	ENST00000263635.6	+	27	4701	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	TANC1_ENST00000454300.1_Silent_p.I1382I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1488					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCATACATCCGAAACCTTC	0.552																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4462-4464)atC>atT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							94.0	99.0	97.0					2																	160086401		1993	4159	6152	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160086401C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4464C>T	2.37:g.160086401C>T						TANC1_ENST00000454300.1_Silent_p.I1382I	p.I1488I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	4701	+			1488					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.4464C>T	CCDS42766.1																																																																																				0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			183	480	0	0	0	1	0	183	480				
NOTCH1	4851	broad.mit.edu	37	9	139405693	139405693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139405693C>T	ENST00000277541.6	-	16	2573	c.2498G>A	c.(2497-2499)tGt>tAt	p.C833Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	833	EGF-like 22. {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)		GCTGGGGGCACACGGGGCCAG	0.672			"""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.(2497-2499)tGt>tAt		notch 1							24.0	31.0	28.0					9																	139405693		2090	4197	6287	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.chr9:139405693C>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.2498G>A	9.37:g.139405693C>T	ENSP00000277541:p.Cys833Tyr	HNSCC(8;0.001)					p.C833Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	16	2573	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	833			EGF-like 22.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2498G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553725	0.86231	.	.	ENSG00000148400	ENST00000277541	D	0.90955	-2.76	4.63	4.63	0.57726	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	H	0.99273	4.495	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99683	1.0999	10	0.87932	D	0	.	16.4616	0.84056	0.0:1.0:0.0:0.0	.	833	P46531	NOTC1_HUMAN	Y	833	ENSP00000277541:C833Y	ENSP00000277541:C833Y	C	-	2	0	NOTCH1	138525514	1.000000	0.71417	0.945000	0.38365	0.913000	0.54294	7.251000	0.78297	2.120000	0.65058	0.462000	0.41574	TGT		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		33	167	0	0	0	1	0	33	167				
EHMT1	79813	broad.mit.edu	37	9	140611405	140611405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140611405G>A	ENST00000460843.1	+	3	440	c.413G>A	c.(412-414)aGg>aAg	p.R138K	EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	138					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCCCTTGAGGACTACCAGC	0.567																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(412-414)aGg>aAg		euchromatic histone-lysine N-methyltransferase 1							64.0	67.0	66.0					9																	140611405		2202	4299	6501	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611405G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.413G>A	9.37:g.140611405G>A	ENSP00000417980:p.Arg138Lys					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K	p.R138K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	440	+	all_cancers(76;0.164)		138					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.413G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	g	25.8	4.673887	0.88445	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.79033	0.74;-0.0;-1.23	6.0	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.67953	2.075	0.43160	D	0.99494	D;D;D	0.76494	0.986;0.997;0.999	D;D;D	0.81914	0.968;0.991;0.995	D	0.88340	0.2974	10	0.72032	D	0.01	.	15.5361	0.76004	0.0661:0.0:0.9339:0.0	.	138;107;138	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	K	107;107;138;138	ENSP00000334476:R107K;ENSP00000417328:R138K;ENSP00000417980:R138K	ENSP00000334476:R107K	R	+	2	0	EHMT1	139731226	1.000000	0.71417	0.240000	0.24138	0.958000	0.62258	6.610000	0.74178	1.567000	0.49668	0.639000	0.83563	AGG		0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		78	390	0	0	0	1	0	78	390				
ARHGEF19	128272	broad.mit.edu	37	1	16532534	16532534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16532534C>T	ENST00000270747.3	-	8	1479	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	448	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CACGCTGAAGCGCAGCACATC	0.642																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1342-1344)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 19							36.0	34.0	34.0					1																	16532534		2202	4298	6500	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532534C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1343G>A	1.37:g.16532534C>T	ENSP00000270747:p.Arg448His					ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Missense_Mutation_p.R448H	p.R448H	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	8	1479	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	448			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1343G>A	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938587|1.938587	0.34189|0.34189	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000449495|ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785	.|T;T;T	.|0.29397	.|1.57;1.57;2.32	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.14657|0.14657	0.0354|0.0354	N|N	0.11560|0.11560	0.145|0.145	0.41567|0.41567	D|D	0.988663|0.988663	.|B	.|0.13594	.|0.008	.|B	.|0.13407	.|0.009	T|T	0.12656|0.12656	-1.0539|-1.0539	5|10	.|0.15499	.|T	.|0.54	.|.	8.8197|8.8197	0.35018|0.35018	0.0:0.8962:0.0:0.1038|0.0:0.8962:0.0:0.1038	.|.	.|448	.|Q8IW93	.|ARHGJ_HUMAN	T|H	137|448;448;448;131	.|ENSP00000270747:R448H;ENSP00000396001:R448H;ENSP00000414370:R131H	.|ENSP00000270747:R448H	A|R	-|-	1|2	0|0	ARHGEF19|ARHGEF19	16405121|16405121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	1.166000|1.166000	0.31834|0.31834	2.129000|2.129000	0.65627|0.65627	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.642	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		12	37	0	0	0	1	0	12	37				
NIN	51199	broad.mit.edu	37	14	51221342	51221342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51221342G>A	ENST00000382041.3	-	20	4863	c.4673C>T	c.(4672-4674)aCg>aTg	p.T1558M	NIN_ENST00000245441.5_Missense_Mutation_p.T1558M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M|NIN_ENST00000530997.2_Missense_Mutation_p.T1558M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000453196.1_Missense_Mutation_p.T1558M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1558					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TACAGTTTCCGTTTTTTGCCT	0.274			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(4672-4674)aCg>aTg		ninein (GSK3B interacting protein)							70.0	66.0	67.0					14																	51221342		2198	4293	6491	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51221342G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4673C>T	14.37:g.51221342G>A	ENSP00000371472:p.Thr1558Met					NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000530997.2_Missense_Mutation_p.T1558M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000453196.1_Missense_Mutation_p.T1558M|NIN_ENST00000382041.3_Missense_Mutation_p.T1558M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M	p.T1558M	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			20	4863	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1558					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.4673C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466720	0.26335	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.11604	3.56;2.76;2.76;3.3;3.3;3.3	4.77	3.63	0.41609	.	0.570870	0.19028	N	0.124637	T	0.07908	0.0198	N	0.22421	0.69	0.24797	N	0.992728	P;P;P;D;P	0.61080	0.799;0.871;0.709;0.989;0.895	B;B;B;B;B	0.43701	0.159;0.101;0.165;0.428;0.308	T	0.23619	-1.0183	10	0.30078	T	0.28	-4.709	8.8968	0.35470	0.9068:0.0:0.0932:0.0	.	1564;1558;1558;845;1558	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	1558;1541;845;845;1564;1558;1558;1558	ENSP00000245441:T1558M;ENSP00000374518:T845M;ENSP00000371474:T845M;ENSP00000371472:T1558M;ENSP00000324210:T1558M;ENSP00000412391:T1558M	ENSP00000245441:T1558M	T	-	2	0	NIN	50291092	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	3.796000	0.55507	0.791000	0.33826	-0.471000	0.05019	ACG		0.274	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		19	101	0	0	0	1	0	19	101				
HECA	51696	broad.mit.edu	37	6	139498117	139498117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139498117G>A	ENST00000367658.2	+	4	1792	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	503					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GCCGGTGATCGACGTGAGGAT	0.547																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1507-1509)Gac>Aac		headcase homolog (Drosophila)							139.0	112.0	121.0					6																	139498117		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139498117G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1507G>A	6.37:g.139498117G>A	ENSP00000356630:p.Asp503Asn					RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	p.D503N	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	4	1792	+			503						Missense_Mutation	SNP	ENST00000367658.2	37	c.1507G>A	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586932	0.96578	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51356	-0.8716	9	0.25106	T	0.35	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	503	Q9UBI9	HDC_HUMAN	N	503	.	ENSP00000356630:D503N	D	+	1	0	HECA	139539810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	GAC		0.547	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		28	123	0	0	0	1	0	28	123				
AKTIP	64400	broad.mit.edu	37	16	53532472	53532472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53532472C>T	ENST00000394657.7	-	3	253	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M|AKTIP_ENST00000300245.4_Missense_Mutation_p.V27M	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	27					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTGGTTTTCACGTCCCCTGTT	0.423																																						ENST00000300245.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(79-81)Gtg>Atg		AKT interacting protein							116.0	110.0	112.0					16																	53532472		2198	4300	6498	SO:0001583	missense	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53532472C>T	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.79G>A	16.37:g.53532472C>T	ENSP00000378152:p.Val27Met					AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M|AKTIP_ENST00000394657.6_Missense_Mutation_p.V27M	p.V27M			Q9H8T0	AKTIP_HUMAN			4	296	-		all_cancers(37;0.14)	27					Q503B1|Q53H38	Missense_Mutation	SNP	ENST00000394657.7	37	c.79G>A	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222642	0.39300	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	D;D	0.82803	-1.65;-1.65	5.05	2.98	0.34508	.	0.407215	0.27345	N	0.019790	T	0.64305	0.2586	N	0.08118	0	0.27982	N	0.935988	B;B;B	0.18610	0.017;0.029;0.017	B;B;B	0.15870	0.006;0.014;0.006	T	0.58126	-0.7691	10	0.45353	T	0.12	0.9395	8.2208	0.31541	0.0:0.5872:0.3207:0.0922	.	27;27;27	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	M	27	ENSP00000378152:V27M;ENSP00000300245:V27M	ENSP00000300245:V27M	V	-	1	0	AKTIP	52089973	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.535000	0.45685	1.506000	0.48736	0.555000	0.69702	GTG		0.423	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		82	369	0	0	0	1	0	82	369				
MPDZ	8777	broad.mit.edu	37	9	13190142	13190142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13190142C>A	ENST00000319217.7	-	16	2372	c.2125G>T	c.(2125-2127)Gga>Tga	p.G709*	MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	709	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAACCAAGTCCTTTGCTCCCT	0.413																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2125-2127)Gga>Tga		multiple PDZ domain protein							74.0	69.0	71.0					9																	13190142		1960	4155	6115	SO:0001587	stop_gained	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13190142C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2125G>T	9.37:g.13190142C>A	ENSP00000320006:p.Gly709*					MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*	p.G709*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	16	2372	-			709			PDZ 5.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Nonsense_Mutation	SNP	ENST00000319217.7	37	c.2125G>T		.	.	.	.	.	.	.	.	.	.	C	45	11.594559	0.99580	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.83	5.83	0.93111	.	0.000000	0.42821	D	0.000653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7442	0.96245	0.0:1.0:0.0:0.0	.	.	.	.	X	709;709;709;709;709;709;659;709	.	ENSP00000320006:G709X	G	-	1	0	MPDZ	13180142	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	GGA		0.413	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		12	117	1	0	0.000978159	1	0.000988919	12	117				
RTEL1	51750	broad.mit.edu	37	20	62321794	62321794	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62321794G>A	ENST00000360203.5	+	26	2738	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805R|RTEL1_ENST00000508582.2_Splice_Site_p.G829R|RTEL1_ENST00000318100.4_Splice_Site_p.G805R|RTEL1_ENST00000370018.3_Splice_Site_p.G805R|RTEL1_ENST00000370003.1_Splice_Site_p.G50R					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGGTCCTCAGGTGCGGACGG	0.701																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e26+1		regulator of telomere elongation helicase 1							31.0	31.0	31.0					20																	62321794		2192	4279	6471	SO:0001630	splice_region_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62321794G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2413+1G>A	20.37:g.62321794G>A						RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805_splice|RTEL1_ENST00000370003.1_Splice_Site_p.G50_splice|RTEL1_ENST00000370018.3_Splice_Site_p.G805_splice|RTEL1_ENST00000360203.5_Splice_Site_p.G805_splice|RTEL1_ENST00000508582.2_Splice_Site_p.G829_splice	p.G805_splice			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		26	3240	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		805						Splice_Site	SNP	ENST00000360203.5	37	c.2413_splice		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078151	0.76528	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.16	4.16	0.48862	.	0.712591	0.13416	N	0.389486	T	0.28797	0.0714	M	0.64997	1.995	0.37882	D	0.930427	D;D;P;D	0.89917	0.991;1.0;0.935;0.99	P;D;P;P	0.97110	0.845;1.0;0.67;0.828	T	0.03807	-1.1002	10	0.23302	T	0.38	-20.4953	13.999	0.64421	0.0:0.0:1.0:0.0	.	829;50;805;805	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	805;805;829;805;198;50	ENSP00000359035:G805R;ENSP00000322287:G805R;ENSP00000424307:G829R;ENSP00000353332:G805R;ENSP00000388063:G198R;ENSP00000359020:G50R	ENSP00000353332:G805R	G	+	1	0	AL353715.1	61792238	0.999000	0.42202	0.490000	0.27465	0.399000	0.30720	4.479000	0.60236	2.144000	0.66660	0.563000	0.77884	GGG		0.701	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957	Missense_Mutation	38	172	0	0	0	1	0	38	172				
APOB	338	broad.mit.edu	37	2	21250864	21250864	+	Missense_Mutation	SNP	G	G	A	rs548108916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21250864G>A	ENST00000233242.1	-	14	2030	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	APOB_ENST00000399256.4_Missense_Mutation_p.R635W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	635	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R635W(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATAGTTCCGAGAGAATTTT	0.368																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.R635W(1)	lung(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(1903-1905)Cgg>Tgg		apolipoprotein B	Atorvastatin(DB01076)						117.0	121.0	120.0					2																	21250864		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21250864G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1903C>T	2.37:g.21250864G>A	ENSP00000233242:p.Arg635Trp					APOB_ENST00000399256.4_Missense_Mutation_p.R635W	p.R635W	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			14	2030	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		635			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1903C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827089	0.71143	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.23950	1.88;1.88	5.85	4.0	0.46444	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);Vitellinogen, superhelical (2);	0.163734	0.38492	N	0.001671	T	0.52025	0.1709	M	0.81239	2.535	0.39492	D	0.96806	D	0.89917	1.0	D	0.67103	0.949	T	0.62172	-0.6910	10	0.87932	D	0	.	15.4125	0.74937	0.0:0.0:0.746:0.254	.	635	P04114	APOB_HUMAN	W	635	ENSP00000233242:R635W;ENSP00000382200:R635W	ENSP00000233242:R635W	R	-	1	2	APOB	21104369	0.987000	0.35691	1.000000	0.80357	0.706000	0.40770	2.281000	0.43452	0.892000	0.36259	0.655000	0.94253	CGG		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			133	639	0	0	0	1	0	133	639				
PRC1	9055	broad.mit.edu	37	15	91512344	91512344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91512344G>A	ENST00000394249.3	-	14	1833	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361188.5_Intron|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000556200.1_RNA	NM_003981.3	NP_003972			protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAGAGGGACGGATCCTTCTAA	0.488																																						ENST00000394249.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1756-1758)Ccg>Tcg		protein regulator of cytokinesis 1							108.0	87.0	95.0					15																	91512344		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91512344G>A	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000394249.3:c.1756C>T	15.37:g.91512344G>A	ENSP00000377793:p.Pro586Ser					PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000361188.5_Intron	p.P586S	NM_003981.3	NP_003972.1	O43663	PRC1_HUMAN			14	1833	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		586			Unstructured, Arg/Lys rich.			Missense_Mutation	SNP	ENST00000394249.3	37	c.1756C>T	CCDS32334.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662517	0.67700	.	.	ENSG00000198901	ENST00000394249;ENST00000555455	T	0.32023	1.47	5.97	5.05	0.67936	.	0.192367	0.32970	N	0.005440	T	0.27205	0.0667	N	0.22421	0.69	0.80722	D	1	P	0.51449	0.945	P	0.54460	0.753	T	0.02202	-1.1196	10	0.07325	T	0.83	-15.7032	10.1602	0.42847	0.0881:0.0:0.9119:0.0	.	586	O43663	PRC1_HUMAN	S	586;189	ENSP00000377793:P586S	ENSP00000377793:P586S	P	-	1	0	PRC1	89313348	0.999000	0.42202	0.968000	0.41197	0.959000	0.62525	2.695000	0.47043	2.851000	0.98039	0.644000	0.83932	CCG		0.488	PRC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414757.1	NM_003981		21	143	0	0	0	1	0	21	143				
ZNF208	7757	broad.mit.edu	37	19	22154655	22154655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22154655C>T	ENST00000397126.4	-	4	3329	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1061					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.453																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3181-3183)Gaa>Aaa		zinc finger protein 208							127.0	129.0	129.0					19																	22154655		2140	4246	6386	SO:0001583	missense	7757							g.chr19:22154655C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3181G>A	19.37:g.22154655C>T	ENSP00000380315:p.Glu1061Lys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.E1061K	NM_007153.3	NP_009084.2					4	3329	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3181G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638835	0.29157	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07327	3.2	2.59	-0.806	0.10875	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	.	.	.	0.09310	N	1	P	0.40515	0.719	B	0.34038	0.174	T	0.35475	-0.9787	8	0.48119	T	0.1	.	7.6796	0.28505	0.0:0.6902:0.1824:0.1274	.	933	O43345	ZN208_HUMAN	K	1061;933	ENSP00000380315:E1061K	ENSP00000380315:E1061K	E	-	1	0	ZNF208	21946495	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	-0.696000	0.05104	0.119000	0.18210	0.297000	0.19635	GAA		0.453	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		131	579	0	0	0	1	0	131	579				
ATP6V1C2	245973	broad.mit.edu	37	2	10918751	10918751	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10918751G>T	ENST00000272238.4	+	12	1126	c.1017G>T	c.(1015-1017)tgG>tgT	p.W339C	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.W293C	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	339					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCATTGCCTGGATCCACATCA	0.622																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(877-879)tgG>tgT		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							135.0	123.0	127.0					2																	10918751		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10918751G>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1017G>T	2.37:g.10918751G>T	ENSP00000272238:p.Trp339Cys					ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.W339C	p.W293C	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	988	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		339					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.879G>T	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419227	0.83559	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.51325	0.71;0.71	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.89601	3.045	0.80722	D	1	B;D	0.76494	0.172;0.999	B;D	0.70935	0.19;0.971	T	0.80120	-0.1515	10	0.72032	D	0.01	-8.0036	19.9204	0.97084	0.0:0.0:1.0:0.0	.	293;339	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	C	339;293	ENSP00000272238:W339C;ENSP00000371077:W293C	ENSP00000272238:W339C	W	+	3	0	ATP6V1C2	10836202	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.773000	0.98989	2.721000	0.93114	0.491000	0.48974	TGG		0.622	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		92	319	1	0	2.18907e-53	1	2.72816e-53	92	319				
SETD2	29072	broad.mit.edu	37	3	47164397	47164397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164397C>A	ENST00000409792.3	-	3	1771	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	577					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCATTTAATTCTGTACAACAG	0.299			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(1729-1731)Gaa>Taa		SET domain containing 2							54.0	61.0	59.0					3																	47164397		2201	4299	6500	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164397C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1729G>T	3.37:g.47164397C>A	ENSP00000386759:p.Glu577*						p.E577*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1771	-		Acute lymphoblastic leukemia(5;0.0169)	577					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.1729G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	36	5.644847	0.96704	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7171	0.57121	0.0:0.9254:0.0:0.0746	.	.	.	.	X	577;577;577;533	.	ENSP00000386759:E577X	E	-	1	0	SETD2	47139401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.261000	0.58841	2.823000	0.97156	0.650000	0.86243	GAA		0.299	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		16	417	1	0	2.32078e-09	1	2.442e-09	16	417				
SUPT6H	6830	broad.mit.edu	37	17	27022515	27022515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27022515C>T	ENST00000314616.6	+	29	4203	c.3920C>T	c.(3919-3921)gCt>gTt	p.A1307V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1307V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1307					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATGCTGAAGCTGCAGACCAC	0.552																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3919-3921)gCt>gTt		suppressor of Ty 6 homolog (S. cerevisiae)							105.0	87.0	93.0					17																	27022515		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27022515C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3920C>T	17.37:g.27022515C>T	ENSP00000319104:p.Ala1307Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1307V	p.A1307V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			29	4203	+	Lung NSC(42;0.00431)		1307					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3920C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257120	0.80246	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.79	5.79	0.91817	.	0.149662	0.64402	D	0.000010	T	0.42404	0.1201	N	0.08118	0	0.54753	D	0.99998	B	0.12630	0.006	B	0.15484	0.013	T	0.21861	-1.0233	9	0.39692	T	0.17	-13.6067	20.0345	0.97552	0.0:1.0:0.0:0.0	.	1307	Q7KZ85	SPT6H_HUMAN	V	1307	.	ENSP00000319104:A1307V	A	+	2	0	SUPT6H	24046642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.733000	0.93635	0.650000	0.86243	GCT		0.552	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		5	198	0	0	0	1	0	5	198				
TAF1C	9013	broad.mit.edu	37	16	84215011	84215011	+	Missense_Mutation	SNP	G	G	A	rs140327311	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215011G>A	ENST00000567759.1	-	10	1347	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	389					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCTGCCCAACGCCACGAAGAG	0.652													G|||	5	0.000998403	0.0	0.0029	5008	,	,		16161	0.0		0.003	False		,,,				2504	0.0					ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1165-1167)Cgt>Tgt		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa		G	CYS/ARG,CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	54.0	51.0	52.0		1165,886	4.6	1.0	16	dbSNP_134	52	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	TAF1C	NM_005679.3,NM_139353.2	180,180	0,12,6488	AA,AG,GG		0.1163,0.0455,0.0923	probably-damaging,probably-damaging	389/870,296/776	84215011	12,12988	2200	4300	6500	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215011G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1165C>T	16.37:g.84215011G>A	ENSP00000455265:p.Arg389Cys					TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C	p.R389C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			10	1347	-			389					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1165C>T	CCDS32496.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	17.88	3.498123	0.64186	4.55E-4	0.001163	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.03301	3.98;3.98;3.98	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);	0.094549	0.41500	D	0.000877	T	0.15825	0.0381	M	0.72118	2.19	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.983;0.998;0.983	T	0.00090	-1.2087	10	0.66056	D	0.02	-23.8596	12.7086	0.57076	0.0:0.0:1.0:0.0	.	363;389;296	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	C	389;296;296	ENSP00000367802:R389C;ENSP00000437900:R296C;ENSP00000345305:R296C	ENSP00000345305:R296C	R	-	1	0	TAF1C	82772512	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.077000	0.71275	2.360000	0.80028	0.655000	0.94253	CGT		0.652	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		44	162	0	0	0	1	0	44	162				
TTLL5	23093	broad.mit.edu	37	14	76248892	76248892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76248892G>T	ENST00000298832.9	+	25	2783	c.2578G>T	c.(2578-2580)Gaa>Taa	p.E860*	TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E874*|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	860					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACAGACGACAGAAATTCATTC	0.338																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2578-2580)Gaa>Taa		tubulin tyrosine ligase-like family, member 5							98.0	96.0	97.0					14																	76248892		2203	4300	6503	SO:0001587	stop_gained	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76248892G>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2578G>T	14.37:g.76248892G>T	ENSP00000298832:p.Glu860*					TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E874*|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*	p.E860*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	25	2783	+			860					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Nonsense_Mutation	SNP	ENST00000298832.9	37	c.2578G>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315407	0.97467	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.83	5.83	0.93111	.	3.520550	0.00496	N	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.6339	0.76933	0.0:0.0:1.0:0.0	.	.	.	.	X	547;874;860;411;411;369	.	ENSP00000298832:E860X	E	+	1	0	TTLL5	75318645	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	4.372000	0.59530	2.770000	0.95276	0.655000	0.94253	GAA		0.338	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		43	191	1	0	3.21987e-24	1	3.67739e-24	43	191				
KCNN3	3782	broad.mit.edu	37	1	154744644	154744644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154744644C>T	ENST00000271915.4	-	3	1570	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T|KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	424					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ATGACTCGGGCGATCAGGTAC	0.602																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(1255-1257)Gcc>Acc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							108.0	88.0	95.0					1																	154744644		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744644C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1255G>A	1.37:g.154744644C>T	ENSP00000271915:p.Ala419Thr					KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T|KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T	p.A419T	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1570	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		424					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1255G>A	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729773	0.89390	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.23950	1.88;1.88;1.88	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000044	T	0.30448	0.0765	L	0.60455	1.87	0.52501	D	0.999951	D;D;P	0.67145	0.996;0.969;0.861	P;P;P	0.53035	0.716;0.493;0.473	T	0.08006	-1.0743	10	0.62326	D	0.03	-14.5979	17.3493	0.87318	0.0:1.0:0.0:0.0	.	425;424;114	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	T	114;419;106	ENSP00000354764:A114T;ENSP00000271915:A419T;ENSP00000351295:A106T	ENSP00000271915:A419T	A	-	1	0	KCNN3	153011268	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.647000	0.83462	2.413000	0.81919	0.561000	0.74099	GCC		0.602	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		92	313	0	0	0	1	0	92	313				
TACR2	6865	broad.mit.edu	37	10	71164835	71164835	+	Missense_Mutation	SNP	C	C	T	rs200471172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71164835C>T	ENST00000373306.4	-	5	1487	c.944G>A	c.(943-945)cGc>cAc	p.R315H	TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	315					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAATCCAGAGCGAAACCTGGG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18396	0.0		0.001	False		,,,				2504	0.0					ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(943-945)cGc>cAc		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)	C	HIS/ARG	0,4406		0,0,2203	81.0	70.0	74.0		944	4.7	1.0	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	TACR2	NM_001057.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	315/399	71164835	1,13005	2203	4300	6503	SO:0001583	missense	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71164835C>T		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.944G>A	10.37:g.71164835C>T	ENSP00000362403:p.Arg315His					TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	p.R315H	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			5	1487	-			315					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	c.944G>A	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121827	0.94429	0.0	1.16E-4	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.58358	0.34;0.34	5.58	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.85630	2.765	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	T	0.78889	-0.2026	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.9295:0.0:0.0705	.	315	P21452	NK2R_HUMAN	H	103;315	ENSP00000362404:R103H;ENSP00000362403:R315H	ENSP00000362403:R315H	R	-	2	0	TACR2	70834841	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.929000	0.63455	2.625000	0.88918	0.561000	0.74099	CGC		0.622	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			65	243	0	0	0	1	0	65	243				
MITF	4286	broad.mit.edu	37	3	69990401	69990401	+	Silent	SNP	C	C	T	rs199805128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69990401C>T	ENST00000448226.2	+	5	808	c.681C>T	c.(679-681)atC>atT	p.I227I	MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000314589.5_Silent_p.I211I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000352241.4_Silent_p.I227I|MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000314557.6_Silent_p.I120I			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	227	Transactivation.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGATGTAATCGATGACATCA	0.343			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		17492	0.0		0.001	False		,,,				2504	0.0				Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(679-681)atC>atT		microphthalmia-associated transcription factor							121.0	114.0	116.0					3																	69990401		2203	4300	6503	SO:0001819	synonymous_variant	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69990401C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.681C>T	3.37:g.69990401C>T						MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000314557.6_Silent_p.I120I|MITF_ENST00000314589.5_Silent_p.I211I|MITF_ENST00000448226.2_Silent_p.I227I	p.I227I	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	5	844	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	227			Transactivation.		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37	c.681C>T																																																																																					0.343	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		39	158	0	0	0	1	0	39	158				
MICALL2	79778	broad.mit.edu	37	7	1477814	1477814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1477814G>T	ENST00000297508.7	-	12	2405	c.2230C>A	c.(2230-2232)Ctg>Atg	p.L744M	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	744	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ATGTCCTGCAGCTGCCTCTGT	0.731																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(2230-2232)Ctg>Atg		MICAL-like 2							9.0	11.0	11.0					7																	1477814		2160	4257	6417	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1477814G>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2230C>A	7.37:g.1477814G>T	ENSP00000297508:p.Leu744Met					MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M|MICALL2_ENST00000471899.1_5'UTR	p.L744M	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	12	2405	-		Ovarian(82;0.0253)	744					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.2230C>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604029	0.28534	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.52983	0.64;0.64	3.95	-7.9	0.01169	Domain of unknown function DUF3585 (1);	1.590950	0.04597	N	0.397852	T	0.33498	0.0865	N	0.21097	0.63	0.32570	N	0.529911	B;P	0.44195	0.149;0.828	B;B	0.43445	0.058;0.42	T	0.51718	-0.8670	10	0.59425	D	0.04	.	9.0367	0.36291	0.0:0.1679:0.4919:0.3401	.	744;532	Q8IY33;D3YTD2	MILK2_HUMAN;.	M	532;744	ENSP00000385928:L532M;ENSP00000297508:L744M	ENSP00000297508:L744M	L	-	1	2	MICALL2	1444340	0.093000	0.21703	0.701000	0.30321	0.214000	0.24535	-0.414000	0.07114	-1.946000	0.01035	-0.519000	0.04390	CTG		0.731	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		9	30	1	0	0.00621372	1	0.0062537	9	30				
SLC26A4	5172	broad.mit.edu	37	7	107315528	107315528	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107315528T>C	ENST00000265715.3	+	6	963	c.739T>C	c.(739-741)Tac>Cac	p.Y247H		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	247					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCAAAAACTACAATGGAGT	0.433									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(739-741)Tac>Cac		solute carrier family 26 (anion exchanger), member 4							181.0	177.0	178.0					7																	107315528		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315528T>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.739T>C	7.37:g.107315528T>C	ENSP00000265715:p.Tyr247His						p.Y247H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			6	963	+			247					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.739T>C	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	T	9.514	1.106534	0.20632	.	.	ENSG00000091137	ENST00000265715	D	0.92348	-3.02	5.59	4.45	0.53987	Sulphate transporter (1);	0.148487	0.46442	N	0.000296	T	0.78413	0.4279	N	0.03304	-0.355	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.70450	-0.4868	10	0.05721	T	0.95	.	11.2381	0.48953	0.0:0.0715:0.0:0.9284	.	247	O43511	S26A4_HUMAN	H	247	ENSP00000265715:Y247H	ENSP00000265715:Y247H	Y	+	1	0	SLC26A4	107102764	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.179000	0.42528	0.968000	0.38212	0.528000	0.53228	TAC		0.433	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		138	661	0	0	0	1	0	138	661				
ABCA7	10347	broad.mit.edu	37	19	1041388	1041388	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1041388C>T	ENST00000263094.6	+	2	259	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	ABCA7_ENST00000433129.1_Silent_p.L10L|AC011558.5_ENST00000585757.1_RNA|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	10					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGATGCTGCTGCTCTGGAA	0.652																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(28-30)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 7							120.0	113.0	115.0					19																	1041388		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1041388C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.28C>T	19.37:g.1041388C>T						ABCA7_ENST00000433129.1_Silent_p.L10L	p.L10L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	259	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	10					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.28C>T	CCDS12055.1																																																																																				0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		128	581	0	0	0	1	0	128	581				
ACOX3	8310	broad.mit.edu	37	4	8390958	8390958	+	Silent	SNP	G	G	A	rs113402127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8390958G>A	ENST00000356406.5	-	13	1556	c.1479C>T	c.(1477-1479)ccC>ccT	p.P493P	ACOX3_ENST00000413009.2_Silent_p.P493P|ACOX3_ENST00000503233.1_Silent_p.P493P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	493					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAAGGATGCCGGGATAGGCGT	0.552																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(1477-1479)ccC>ccT		acyl-CoA oxidase 3, pristanoyl		G	,	1,4405	2.1+/-5.4	0,1,2202	78.0	73.0	75.0		1479,1479	-5.8	0.0	4	dbSNP_132	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACOX3	NM_001101667.1,NM_003501.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	493/625,493/701	8390958	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8390958G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1479C>T	4.37:g.8390958G>A						ACOX3_ENST00000413009.2_Silent_p.P493P|ACOX3_ENST00000503233.1_Silent_p.P493P	p.P493P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			13	1556	-			493					Q96AJ8	Silent	SNP	ENST00000356406.5	37	c.1479C>T	CCDS3401.1																																																																																				0.552	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			30	108	0	0	0	1	0	30	108				
FOCAD	54914	broad.mit.edu	37	9	20781887	20781887	+	Missense_Mutation	SNP	G	G	A	rs371670691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20781887G>A	ENST00000380249.1	+	12	1520	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	FOCAD_ENST00000338382.6_Missense_Mutation_p.E386K	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	386						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAACCTTTTGGAAATGATACA	0.408																																						ENST00000380249.1																			0											c.(1156-1158)Gaa>Aaa		focadhesin							127.0	112.0	117.0					9																	20781887		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20781887G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1156G>A	9.37:g.20781887G>A	ENSP00000369599:p.Glu386Lys					FOCAD_ENST00000338382.6_Missense_Mutation_p.E386K	p.E386K	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			12	1520	+			386					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1156G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224285	0.58668	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.07444	3.19;3.19	5.88	4.98	0.66077	.	0.280305	0.37348	N	0.002135	T	0.07369	0.0186	L	0.32530	0.975	0.42978	D	0.994451	P	0.39282	0.666	B	0.33339	0.162	T	0.36890	-0.9729	10	0.29301	T	0.29	-16.2097	15.434	0.75129	0.0:0.1382:0.8618:0.0	.	386	Q5VW36	K1797_HUMAN	K	386	ENSP00000369599:E386K;ENSP00000344307:E386K	ENSP00000344307:E386K	E	+	1	0	KIAA1797	20771887	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.395000	0.59678	1.465000	0.48006	-0.176000	0.13171	GAA		0.408	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		23	334	0	0	0	1	0	23	334				
DVL1	1855	broad.mit.edu	37	1	1271741	1271741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271741C>A	ENST00000378888.5	-	15	2153	c.1869G>T	c.(1867-1869)caG>caT	p.Q623H	DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	623					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACGGCTGAGCTGGCCGGCCG	0.741																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1867-1869)caG>caT		dishevelled segment polarity protein 1							9.0	10.0	10.0					1																	1271741		1872	3800	5672	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271741C>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1869G>T	1.37:g.1271741C>A	ENSP00000368166:p.Gln623His					DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H	p.Q623H			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2153	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	623					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1869G>T		.	.	.	.	.	.	.	.	.	.	C	11.40	1.627896	0.28978	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.5	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	L	0.47190	1.495	0.43114	D	0.994829	D;D;D	0.67145	0.995;0.996;0.994	D;D;D	0.81914	0.989;0.995;0.991	T	0.00473	-1.1718	10	0.48119	T	0.1	.	18.2311	0.89934	0.0:1.0:0.0:0.0	.	281;623;598	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	H	598;623;372;281	ENSP00000368169:Q598H;ENSP00000368166:Q623H	ENSP00000263743:Q281H	Q	-	3	2	DVL1	1261604	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	1.953000	0.40352	2.607000	0.88179	0.555000	0.69702	CAG		0.741	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		22	101	1	0	5.35356e-11	1	5.69577e-11	22	101				
HIST1H1T	3010	broad.mit.edu	37	6	26108003	26108003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108003C>T	ENST00000338379.4	-	1	361	c.319G>A	c.(319-321)Ggt>Agt	p.G107S		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	107	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTAAAGGAACCGGAAGCACCA	0.463																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(319-321)Ggt>Agt		histone cluster 1, H1t							95.0	94.0	94.0					6																	26108003		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26108003C>T	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.319G>A	6.37:g.26108003C>T	ENSP00000341214:p.Gly107Ser						p.G107S	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	361	-			107			H15.		Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.319G>A	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922252	0.73213	.	.	ENSG00000187475	ENST00000338379	T	0.57907	0.37	5.38	5.38	0.77491	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	H	0.98446	4.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	-22.0053	18.3099	0.90195	0.0:1.0:0.0:0.0	.	107	P22492	H1T_HUMAN	S	107	ENSP00000341214:G107S	ENSP00000341214:G107S	G	-	1	0	HIST1H1T	26215982	1.000000	0.71417	0.222000	0.23844	0.012000	0.07955	5.912000	0.69948	2.802000	0.96397	0.655000	0.94253	GGT		0.463	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		88	386	0	0	0	1	0	88	386				
LPL	4023	broad.mit.edu	37	8	19816893	19816893	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19816893T>C	ENST00000311322.8	+	7	1609		c.e7+2			NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase						chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	ATTCACTCTGTGAGTAGCACA	0.522																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.e7+2		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						69.0	63.0	65.0					8																	19816893		2203	4300	6503	SO:0001630	splice_region_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19816893T>C		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1139+2T>C	8.37:g.19816893T>C								NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	7	1609	+								B2R5T9|Q16282|Q16283|Q96FC4	Splice_Site	SNP	ENST00000311322.8	37		CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672395	0.67928	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	.	.	.	5.93	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5139	0.50509	0.0:0.0:0.1504:0.8496	.	.	.	.	.	-1	.	.	.	+	.	.	LPL	19861173	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.580000	0.82523	1.048000	0.40298	0.523000	0.50628	.		0.522	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		Intron	41	152	0	0	0	1	0	41	152				
RABL2A	11159	broad.mit.edu	37	2	114391779	114391779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114391779G>T	ENST00000393167.3	+	4	412	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	RABL2A_ENST00000409875.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S|RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	63					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAAGCACACAGCCACGGTAGA	0.552																																						ENST00000409875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						c.(187-189)Gcc>Tcc		RAB, member of RAS oncogene family-like 2A							114.0	72.0	86.0					2																	114391779		2203	4300	6503	SO:0001583	missense	11159				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:114391779G>T		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.187G>T	2.37:g.114391779G>T	ENSP00000376872:p.Ala63Ser					RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393167.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S|RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S	p.A63S			Q9UBK7	RBL2A_HUMAN			5	489	+			63					B7ZBD6|Q9NU37	Missense_Mutation	SNP	ENST00000393167.3	37	c.187G>T	CCDS2118.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374341	0.42105	.	.	ENSG00000144134	ENST00000393167;ENST00000409842;ENST00000413545;ENST00000393165;ENST00000393166;ENST00000409875;ENST00000376439	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.05;-1.36;-1.36;-1.36;-1.36	4.13	3.25	0.37280	Small GTP-binding protein domain (1);	0.308233	0.40640	N	0.001055	T	0.80166	0.4573	M	0.65975	2.015	0.21762	N	0.999553	P;P;P;D	0.53312	0.633;0.589;0.633;0.959	P;P;P;P	0.53689	0.507;0.507;0.507;0.732	T	0.68492	-0.5394	10	0.08179	T	0.78	.	8.0718	0.30693	0.2026:0.0:0.7974:0.0	.	63;63;63;63	Q6IC14;A0AUY0;Q9UBK7;B7ZBD5	.;.;RBL2A_HUMAN;.	S	63	ENSP00000376872:A63S;ENSP00000386460:A63S;ENSP00000388944:A63S;ENSP00000376870:A63S;ENSP00000376871:A63S;ENSP00000387229:A63S;ENSP00000365622:A63S	ENSP00000365622:A63S	A	+	1	0	RABL2A	114108249	0.951000	0.32395	0.257000	0.24404	0.476000	0.33039	1.826000	0.39092	0.966000	0.38159	-0.369000	0.07265	GCC		0.552	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2			13	89	1	0	4.93089e-13	1	5.31412e-13	13	89				
NEK10	152110	broad.mit.edu	37	3	27326096	27326096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326096C>T	ENST00000429845.2	-	23	2373	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	NEK10_ENST00000357467.2_Missense_Mutation_p.V68I|NEK10_ENST00000341435.5_Missense_Mutation_p.V671I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	671	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACTTACTAACGGTTACTTTG	0.378																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2011-2013)Gtt>Att		NIMA-related kinase 10							114.0	107.0	109.0					3																	27326096		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27326096C>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2011G>A	3.37:g.27326096C>T	ENSP00000395849:p.Val671Ile					NEK10_ENST00000341435.5_Missense_Mutation_p.V671I|NEK10_ENST00000357467.2_Missense_Mutation_p.V68I	p.V671I			Q6ZWH5	NEK10_HUMAN			23	2373	-			671			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.2011G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.504|5.504	0.277915|0.277915	0.10403|0.10403	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000357467;ENST00000341435;ENST00000396636	.|T;T	.|0.34072	.|1.38;1.38	6.02|6.02	4.23|4.23	0.50019|0.50019	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.278543	.|0.34046	.|N	.|0.004303	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.00403|0.00403	-1.54|-1.54	0.35353|0.35353	D|D	0.787516|0.787516	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.12156	.|0.003;0.007	T|T	0.27806|0.27806	-1.0063|-1.0063	5|10	.|0.02654	.|T	.|1	.|.	8.1462|8.1462	0.31113|0.31113	0.0:0.7434:0.0:0.2566|0.0:0.7434:0.0:0.2566	.|.	.|671;68	.|Q6ZWH5;Q8N774	.|NEK10_HUMAN;.	H|I	127|68;671;671	.|ENSP00000350059:V68I;ENSP00000343847:V671I	.|ENSP00000343847:V671I	R|V	-|-	2|1	0|0	NEK10|NEK10	27301100|27301100	0.962000|0.962000	0.33011|0.33011	0.669000|0.669000	0.29828|0.29828	0.956000|0.956000	0.61745|0.61745	1.794000|1.794000	0.38774|0.38774	1.558000|1.558000	0.49541|0.49541	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.378	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		35	220	0	0	0	1	0	35	220				
LOC645166	645166	broad.mit.edu	37	1	148932828	148932828	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148932828G>T	ENST00000539543.1	+	0	84					NR_027355.2																						GGCCTCCATAGAGCTGCCCAG	0.592																																						ENST00000539543.1																			0																																																			0							g.chr1:148932828G>T																													1.37:g.148932828G>T								NR_027355.1						0	84	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.592	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				14	1080	1	0	2.5808e-16	1	2.83451e-16	14	1080				
HELB	92797	broad.mit.edu	37	12	66718889	66718889	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66718889A>G	ENST00000247815.4	+	11	2712	c.2653A>G	c.(2653-2655)Act>Gct	p.T885A		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	885					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATGGGCAAGAACTATTCACAC	0.343																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2653-2655)Act>Gct		helicase (DNA) B							97.0	98.0	98.0					12																	66718889		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66718889A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2653A>G	12.37:g.66718889A>G	ENSP00000247815:p.Thr885Ala						p.T885A	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	11	2712	+			885					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2653A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631428	0.46944	.	.	ENSG00000127311	ENST00000247815	T	0.32023	1.47	5.42	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.94101	3.495	0.41065	D	0.985403	P	0.38978	0.652	B	0.39706	0.307	T	0.60110	-0.7327	9	.	.	.	-24.8586	12.2805	0.54760	0.8733:0.0:0.0:0.1267	.	885	Q8NG08	HELB_HUMAN	A	885	ENSP00000247815:T885A	.	T	+	1	0	HELB	65005156	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.295000	0.78780	2.190000	0.69967	0.496000	0.49642	ACT		0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			57	292	0	0	0	1	0	57	292				
CACNA1I	8911	broad.mit.edu	37	22	40060793	40060793	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060793G>T	ENST00000402142.3	+	21	3716	c.3716G>T	c.(3715-3717)aGc>aTc	p.S1239I	CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1245I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1239					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTACGCAGCAGCTGGAACGTG	0.677																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3733-3735)aGc>aTc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						55.0	61.0	59.0					22																	40060793		2114	4228	6342	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060793G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3716G>T	22.37:g.40060793G>T	ENSP00000385019:p.Ser1239Ile					CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1239I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I	p.S1245I			Q9P0X4	CAC1I_HUMAN			24	3734	+	Melanoma(58;0.0749)		1239					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3734G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540607	0.85917	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	L	0.49513	1.565	0.52501	D	0.999959	D;D;D;D	0.89917	0.991;1.0;0.998;0.999	P;D;D;D	0.85130	0.883;0.997;0.962;0.997	D	0.99894	1.1142	10	0.87932	D	0	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1204;1239;1204;1239	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1239;1204;1239;1204;1245;1204	ENSP00000385019:S1239I;ENSP00000384093:S1204I;ENSP00000383887:S1239I;ENSP00000385680:S1204I;ENSP00000337829:S1245I;ENSP00000383028:S1204I	ENSP00000337829:S1245I	S	+	2	0	CACNA1I	38390739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.348000	0.73009	1.950000	0.56595	0.462000	0.41574	AGC		0.677	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		19	147	1	0	6.94344e-10	1	7.33246e-10	19	147				
PKD1L1	168507	broad.mit.edu	37	7	47933614	47933614	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47933614C>A	ENST00000289672.2	-	15	2364	c.2314G>T	c.(2314-2316)Ggc>Tgc	p.G772C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	772	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCTCCAGGCCCACACAGTAG	0.592																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(2314-2316)Ggc>Tgc		polycystic kidney disease 1 like 1							91.0	68.0	75.0					7																	47933614		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47933614C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2314G>T	7.37:g.47933614C>A	ENSP00000289672:p.Gly772Cys						p.G772C	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			15	2364	-			772			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2314G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.505172	0.44558	.	.	ENSG00000158683	ENST00000289672	T	0.69685	-0.42	5.23	2.19	0.27852	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.393919	0.21761	N	0.069506	T	0.70684	0.3252	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.58645	-0.7600	10	0.44086	T	0.13	-13.2627	8.0761	0.30718	0.0:0.4701:0.441:0.089	.	772	Q8TDX9	PK1L1_HUMAN	C	772	ENSP00000289672:G772C	ENSP00000289672:G772C	G	-	1	0	PKD1L1	47900139	0.000000	0.05858	0.385000	0.26158	0.847000	0.48162	0.447000	0.21710	0.570000	0.29347	0.543000	0.68304	GGC		0.592	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		14	306	1	0	1.05317e-09	1	1.11087e-09	14	306				
POLR3E	55718	broad.mit.edu	37	16	22320292	22320292	+	Missense_Mutation	SNP	G	G	A	rs145630346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22320292G>A	ENST00000299853.5	+	5	379	c.212G>A	c.(211-213)cGc>cAc	p.R71H	POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H|POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000564256.1_3'UTR	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	71					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AACTATTGCCGCAGCAAAGGG	0.617													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18459	0.0		0.002	False		,,,				2504	0.0					ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(211-213)cGc>cAc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							130.0	104.0	112.0					16																	22320292		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22320292G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.212G>A	16.37:g.22320292G>A	ENSP00000299853:p.Arg71His					POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H	p.R71H	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	5	379	+			71					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.212G>A	CCDS10605.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.615409	0.87359	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47528	0.84;0.84;0.84	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.61387	1.9	0.80722	D	1	D;D;P;P;D	0.89917	1.0;0.977;0.868;0.95;0.971	D;P;B;P;B	0.71656	0.974;0.64;0.271;0.64;0.378	T	0.68880	-0.5292	10	0.87932	D	0	-18.8766	18.5571	0.91089	0.0:0.0:1.0:0.0	.	35;71;71;71;71	B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;RPC5_HUMAN;.	H	71;71;35	ENSP00000299853:R71H;ENSP00000352140:R71H;ENSP00000399254:R35H	ENSP00000299853:R71H	R	+	2	0	POLR3E	22227793	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.381000	0.97205	2.684000	0.91462	0.555000	0.69702	CGC		0.617	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		82	360	0	0	0	1	0	82	360				
SIRPB1	10326	broad.mit.edu	37	20	1592091	1592091	+	Intron	SNP	G	G	A	rs541268179	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1592091G>A	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Silent_p.A115A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Silent_p.A115A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGGTGCCGGCATCTGCTG	0.537													g|||	3	0.000599042	0.0	0.0043	5008	,	,		5460	0.0		0.0	False		,,,				2504	0.0					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(343-345)gcC>gcT		signal-regulatory protein beta 1							83.0	97.0	94.0					20																	1592091		429	1306	1735	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592091G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8423C>T	20.37:g.1592091G>A						SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.A115A	p.A115A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	409	-			115			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.345C>T	CCDS13019.1																																																																																				0.537	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		109	225	0	0	0	1	0	109	225				
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T	rs200499852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000458235.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1990-1992)ccG>ccA		Janus kinase 3		C		0,4406		0,0,2203	49.0	48.0	48.0		1992	-9.8	0.1	19		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAK3	NM_000215.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		664/1125	17945947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945947C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1992G>A	19.37:g.17945947C>T						JAK3_ENST00000527670.1_Silent_p.P664P|JAK3_ENST00000534444.1_Silent_p.P664P	p.P664P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			15	2091	-			664			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1992G>A	CCDS12366.1																																																																																				0.637	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		62	309	0	0	0	1	0	62	309				
A2ML1	144568	broad.mit.edu	37	12	9009783	9009783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9009783C>T	ENST00000299698.7	+	24	3052	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q467*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACAGCCCTGCAGAACCTGGA	0.517																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(2872-2874)Cag>Tag		alpha-2-macroglobulin-like 1							103.0	103.0	103.0					12																	9009783		1946	4145	6091	SO:0001587	stop_gained	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9009783C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2872C>T	12.37:g.9009783C>T	ENSP00000299698:p.Gln958*					A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q467*	p.Q958*	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			24	3052	+			802						Nonsense_Mutation	SNP	ENST00000299698.7	37	c.2872C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	40	8.509052	0.98841	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.54	-2.53	0.06326	.	0.179059	0.26112	N	0.026267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.3273	0.15913	0.4006:0.4516:0.0:0.1478	.	.	.	.	X	958;958;508;467	.	ENSP00000299698:Q958X	Q	+	1	0	A2ML1	8901050	0.691000	0.27709	0.699000	0.30290	0.795000	0.44927	0.099000	0.15210	-0.726000	0.04895	0.462000	0.41574	CAG		0.517	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		12	495	0	0	0	1	0	12	495				
PTPRB	5787	broad.mit.edu	37	12	70953185	70953185	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953185T>G	ENST00000261266.5	-	16	4027	c.3998A>C	c.(3997-3999)aAg>aCg	p.K1333T	PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T|PTPRB_ENST00000334414.6_Missense_Mutation_p.K1551T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1333	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGACAGTCTTGACGTTGAA	0.413																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4651-4653)aAg>aCg		protein tyrosine phosphatase, receptor type, B							234.0	229.0	231.0					12																	70953185		1963	4142	6105	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70953185T>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3998A>C	12.37:g.70953185T>G	ENSP00000261266:p.Lys1333Thr					PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1333T|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T	p.K1551T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		18	4696	-	Renal(347;0.236)		1333					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4652A>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	9.706	1.155820	0.21454	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.84	-0.86	0.10680	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.323996	0.35151	N	0.003420	T	0.35566	0.0936	L	0.36672	1.1	0.28383	N	0.919434	B;B;B;B;B;P	0.39060	0.222;0.12;0.03;0.101;0.07;0.657	B;B;B;B;B;B	0.36922	0.173;0.173;0.049;0.171;0.18;0.236	T	0.34104	-0.9842	10	0.21540	T	0.41	.	10.3196	0.43758	0.0:0.5443:0.0:0.4557	.	1243;1243;1550;1551;1333;1463	P23467-2;F5H3G6;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	T	1551;1243;1463;1243;1243;1333;1550	ENSP00000334928:K1551T;ENSP00000393028:K1243T;ENSP00000448058:K1463T;ENSP00000438927:K1243T;ENSP00000447302:K1243T;ENSP00000261266:K1333T;ENSP00000448349:K1550T	ENSP00000261266:K1333T	K	-	2	0	PTPRB	69239452	0.999000	0.42202	0.994000	0.49952	0.639000	0.38242	0.880000	0.28159	-0.098000	0.12285	-0.290000	0.09829	AAG		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			192	708	0	0	0	1	0	192	708				
SPATA5	166378	broad.mit.edu	37	4	123848884	123848884	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123848884T>C	ENST00000274008.4	+	2	328	c.259T>C	c.(259-261)Ttg>Ctg	p.L87L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	87					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGACCAGTGTTGCTTACTAG	0.343																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(259-261)Ttg>Ctg		spermatogenesis associated 5							134.0	131.0	132.0					4																	123848884		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123848884T>C	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.259T>C	4.37:g.123848884T>C						SPATA5_ENST00000422835.2_3'UTR	p.L87L	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			2	328	+			87					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.259T>C	CCDS3730.1																																																																																				0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		15	480	0	0	0	1	0	15	480				
C6orf120	387263	broad.mit.edu	37	6	170103014	170103014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170103014C>T	ENST00000332290.2	+	1	758	c.459C>T	c.(457-459)ggC>ggT	p.G153G	WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000439249.1_Silent_p.G172G|WDR27_ENST00000420344.2_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	153					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCGCCGACGGCGCAGATGCCG	0.607																																						ENST00000332290.2																			0				endometrium(1)|lung(2)	3						c.(457-459)ggC>ggT		chromosome 6 open reading frame 120							15.0	17.0	16.0					6																	170103014		2174	4270	6444	SO:0001819	synonymous_variant	387263					extracellular region		g.chr6:170103014C>T	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.459C>T	6.37:g.170103014C>T						C6orf120_ENST00000439249.1_Silent_p.G172G	p.G153G	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	1	758	+		Breast(66;0.000338)	153					B4DHE9|E1P5C9	Silent	SNP	ENST00000332290.2	37	c.459C>T	CCDS34575.1																																																																																				0.607	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		20	115	0	0	0	1	0	20	115				
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468																																						ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(1111-1113)tcG>tcA		sialic acid acetylesterase							173.0	144.0	154.0					11																	124509617		2201	4299	6500	SO:0001819	synonymous_variant	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124509617C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1113G>A	11.37:g.124509617C>T						SIAE_ENST00000545756.1_Silent_p.S336S	p.S371S			Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	8	1285	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	371					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	c.1113G>A	CCDS8449.1																																																																																				0.468	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		124	469	0	0	0	1	0	124	469				
STOX2	56977	broad.mit.edu	37	4	184931489	184931489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931489C>T	ENST00000308497.4	+	3	2933	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	500					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCAAAGGCCCTCTGGGTGC	0.552																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(1498-1500)Cct>Tct		storkhead box 2							36.0	43.0	41.0					4																	184931489		1922	4150	6072	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931489C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1498C>T	4.37:g.184931489C>T	ENSP00000311257:p.Pro500Ser					STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	p.P500S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2933	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	500					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1498C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893427	0.72639	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	N	0.20986	0.625	0.80722	D	1	P;D	0.89917	0.518;1.0	B;D	0.80764	0.225;0.994	T	0.80398	-0.1399	10	0.27082	T	0.32	-18.7983	19.9142	0.97043	0.0:1.0:0.0:0.0	.	500;500	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	S	500	ENSP00000311257:P500S;ENSP00000390127:P500S	ENSP00000311257:P500S	P	+	1	0	STOX2	185168483	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.519000	0.53458	2.941000	0.99782	0.655000	0.94253	CCT		0.552	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		6	51	0	0	0	1	0	6	51				
NUP62	23636	broad.mit.edu	37	19	50412726	50412726	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50412726G>T	ENST00000596217.1	-	2	2226	c.339C>A	c.(337-339)ggC>ggA	p.G113G	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.G113G|NUP62_ENST00000422090.2_Silent_p.G113G|NUP62_ENST00000352066.3_Silent_p.G113G|NUP62_ENST00000597723.1_Silent_p.G113G|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597029.1_Silent_p.G113G			P37198	NUP62_HUMAN	nucleoporin 62kDa	113	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|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 MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGCCCAAAGCCGCTGGGGT	0.592																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(337-339)ggC>ggA		nucleoporin 62kDa							73.0	77.0	76.0					19																	50412726		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412726G>T	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.339C>A	19.37:g.50412726G>T						NUP62_ENST00000422090.2_Silent_p.G113G|NUP62_ENST00000352066.3_Silent_p.G113G|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Silent_p.G113G|NUP62_ENST00000597723.1_Silent_p.G113G|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Silent_p.G113G	p.G113G			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2226	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	113			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.339C>A	CCDS12788.1																																																																																				0.592	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		108	497	1	0	1.97301e-41	1	2.39674e-41	108	497				
DHCR7	1717	broad.mit.edu	37	11	71152458	71152458	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71152458G>A	ENST00000355527.3	-	6	717	c.441C>T	c.(439-441)ggC>ggT	p.G147G	DHCR7_ENST00000407721.2_Silent_p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	147			G -> D (in SLOS). {ECO:0000269|PubMed:10677299}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AGGCTTGCAGGCCATTGATCT	0.547									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(439-441)ggC>ggT		7-dehydrocholesterol reductase	NADH(DB00157)						137.0	106.0	117.0					11																	71152458		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152458G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.441C>T	11.37:g.71152458G>A						DHCR7_ENST00000407721.2_Silent_p.G147G	p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			6	717	-			147		G -> D (in SLOS).			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.441C>T	CCDS8200.1																																																																																				0.547	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		22	128	0	0	0	1	0	22	128				
HTR3A	3359	broad.mit.edu	37	11	113860390	113860390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113860390G>A	ENST00000504030.2	+	9	1787	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	448	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGTGGGCTCCGTGCTGGACAA	0.602																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1342-1344)Gtg>Atg		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						81.0	73.0	76.0					11																	113860390		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860390G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1342G>A	11.37:g.113860390G>A	ENSP00000424189:p.Val448Met					HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M	p.V448M			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1787	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	448			HA-stretch.		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1342G>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.063842	0.76187	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.975;1.0	T	0.43245	-0.9403	10	0.87932	D	0	-26.7499	13.105	0.59241	0.073:0.0:0.927:0.0	.	433;486;454	B4DSY6;G5E986;Q7KZM7	.;.;.	M	448;486;454;480;192;433	ENSP00000424189:V448M;ENSP00000347754:V486M;ENSP00000364648:V454M;ENSP00000424776:V480M;ENSP00000437776:V192M;ENSP00000299961:V433M	ENSP00000299961:V433M	V	+	1	0	HTR3A	113365600	1.000000	0.71417	0.973000	0.42090	0.621000	0.37620	5.499000	0.66937	2.710000	0.92621	0.655000	0.94253	GTG		0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		108	437	0	0	0	1	0	108	437				
AMICA1	120425	broad.mit.edu	37	11	118083625	118083625	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118083625C>T	ENST00000356289.5	-	3	217				AMICA1_ENST00000526620.1_Intron|AMICA1_ENST00000533261.1_Intron|AMICA1_ENST00000292067.7_Missense_Mutation_p.S3N	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1						blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCACCTCCACTTACCATAAC	0.408																																						ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(7-9)aGt>aAt		adhesion molecule, interacts with CXADR antigen 1							144.0	137.0	139.0					11																	118083625		2200	4296	6496	SO:0001627	intron_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118083625C>T	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.44-349G>A	11.37:g.118083625C>T						AMICA1_ENST00000533261.1_Intron|AMICA1_ENST00000356289.5_Intron|AMICA1_ENST00000526620.1_Intron	p.S3N	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	1	449	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	0					B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.8G>A	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319867	0.41096	.	.	ENSG00000160593	ENST00000292067	D	0.97232	-4.3	3.32	1.19	0.21007	.	.	.	.	.	D	0.93752	0.8003	.	.	.	0.09310	N	0.999999	P	0.50819	0.939	P	0.45538	0.484	D	0.87505	0.2436	8	0.37606	T	0.19	.	3.4199	0.07389	0.2485:0.6008:0.0:0.1507	.	3	Q86YT9-2	.	N	3	ENSP00000292067:S3N	ENSP00000292067:S3N	S	-	2	0	AMICA1	117588835	0.000000	0.05858	0.001000	0.08648	0.089000	0.18198	-0.371000	0.07513	0.535000	0.28714	0.655000	0.94253	AGT		0.408	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		28	637	0	0	0	1	0	28	637				
PCDHB2	56133	broad.mit.edu	37	5	140475757	140475757	+	Silent	SNP	C	C	T	rs375371663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475757C>T	ENST00000194155.4	+	1	1531	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.632																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1381-1383)ttC>ttT									87.0	87.0	87.0					5																	140475757		2203	4296	6499	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475757C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1383C>T	5.37:g.140475757C>T							p.F461F	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1531	+			461			Cadherin 5.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1383C>T	CCDS4244.1																																																																																				0.632	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		176	971	0	0	0	1	0	176	971				
GDPD4	220032	broad.mit.edu	37	11	76969510	76969510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76969510G>A	ENST00000376217.2	-	10	1035	c.785C>T	c.(784-786)tCt>tTt	p.S262F	GDPD4_ENST00000315938.4_Missense_Mutation_p.S262F			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	262	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCGCAGGCAGATTCTGGCTG	0.448																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(784-786)tCt>tTt		glycerophosphodiester phosphodiesterase domain containing 4							176.0	170.0	172.0					11																	76969510		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76969510G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.785C>T	11.37:g.76969510G>A	ENSP00000365390:p.Ser262Phe					GDPD4_ENST00000376217.2_Missense_Mutation_p.S262F	p.S262F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			10	1035	-			262			GDPD.		Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.785C>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145636	0.06627	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.12465	2.68;2.68	4.73	-0.91	0.10511	.	0.896444	0.09863	N	0.745907	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B	0.22983	0.078	B	0.17979	0.02	T	0.36456	-0.9747	10	0.40728	T	0.16	-1.7653	4.4757	0.11739	0.1736:0.0:0.3917:0.4347	.	262	Q6W3E5-2	.	F	262	ENSP00000365390:S262F;ENSP00000320815:S262F	ENSP00000320815:S262F	S	-	2	0	GDPD4	76647158	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.308000	0.08156	-0.061000	0.13110	0.561000	0.74099	TCT		0.448	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		63	710	0	0	0	1	0	63	710				
LDOC1L	84247	broad.mit.edu	37	22	44893044	44893044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893044C>T	ENST00000341255.3	-	2	902	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	131										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGGCCTCACCCGGGAAGCGGG	0.632																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(391-393)ccG>ccA		leucine zipper, down-regulated in cancer 1-like							38.0	42.0	41.0					22																	44893044		2203	4300	6503	SO:0001819	synonymous_variant	84247							g.chr22:44893044C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.393G>A	22.37:g.44893044C>T							p.P131P	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	902	-		Ovarian(80;0.024)|all_neural(38;0.0416)	131					Q6ZTR1	Silent	SNP	ENST00000341255.3	37	c.393G>A	CCDS33662.1																																																																																				0.632	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		39	200	0	0	0	1	0	39	200				
ZWILCH	55055	broad.mit.edu	37	15	66807941	66807941	+	Silent	SNP	C	C	T	rs143266025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66807941C>T	ENST00000307897.5	+	4	659	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_5'UTR	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	93					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCTCTACTGGCGAAAATGTTG	0.358																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(277-279)ggC>ggT		zwilch kinetochore protein		C		0,4402		0,0,2201	104.0	99.0	101.0		279	-1.4	1.0	15	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZWILCH	NM_017975.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		93/592	66807941	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66807941C>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.279C>T	15.37:g.66807941C>T						ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000446801.2_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000564517.1_Intron	p.G93G	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			4	659	+			93					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.279C>T	CCDS10219.1																																																																																				0.358	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		35	190	0	0	0	1	0	35	190				
GTPBP6	8225	broad.mit.edu	37	X	224168	224168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:224168G>A	ENST00000326153.4	-	5	598	c.599C>T	c.(598-600)aCg>aTg	p.T200M				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	429							GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTTCGGTTCCGTGGGGCTGTA	0.687													g|||	2	0.000399361	0.0	0.0	5008	,	,		17608	0.001		0.0	False		,,,				2504	0.001					ENST00000326153.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7						c.(598-600)aCg>aTg		GTP binding protein 6 (putative)			MET/THR	1,3959		0,1,1979	31.0	36.0	34.0		600	1.7	0.0	X		34	0,8244		0,0,4122	no	missense	GTPBP6	NM_012227.2	81	0,1,6101	AA,AG,GG		0.0,0.0253,0.0082	possibly-damaging	429/517	224168	1,12203	1980	4122	6102	SO:0001583	missense	8225					intracellular	GTP binding	g.chrX:224168G>A	Y14391	CCDS75943.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000178605	ENSG00000178605		"""Pseudoautosomal regions / PAR1"""	30189	protein-coding gene	gene with protein product	"""pseudoautosomal GTP binding protein-like"""	300124				9466997	Standard	XM_006724447		Approved	PGPL, FLJ20977	uc004cpe.1	O43824	OTTHUMG00000022694	ENST00000326153.4:c.599C>T	X.37:g.224168G>A	ENSP00000316598:p.Thr200Met						p.T200M			O43824	GTPB6_HUMAN			5	598	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	429					Q53F77|Q5HYX8	Missense_Mutation	SNP	ENST00000326153.4	37	c.599C>T		.	.	.	.	.	.	.	.	.	.	.	5.744	0.321720	0.10845	2.53E-4	0.0	ENSG00000178605	ENST00000326153	.	.	.	2.55	1.66	0.24008	.	1.029250	0.07715	U	0.942660	T	0.16214	0.0390	.	.	.	0.25601	N	0.986597	P	0.46859	0.885	B	0.27796	0.083	T	0.18147	-1.0346	7	0.48119	T	0.1	-0.5165	6.1419	0.20265	0.164:0.0:0.836:0.0	.	429	O43824	GTPB6_HUMAN	M	200	.	ENSP00000316598:T200M	T	-	2	0	GTPBP6	164168	0.062000	0.20869	0.000000	0.03702	0.079000	0.17450	0.551000	0.23361	0.218000	0.20820	0.164000	0.16699	ACG		0.687	GTPBP6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_012227		36	88	0	0	0	1	0	36	88				
DMRT1	1761	broad.mit.edu	37	9	847106	847106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:847106G>T	ENST00000382276.3	+	2	650	c.501G>T	c.(499-501)caG>caT	p.Q167H	DMRT1_ENST00000569227.1_Missense_Mutation_p.Q9H	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	167					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCACCTCTCAGCCACCGCCGG	0.627																																						ENST00000382276.3																			0				large_intestine(2)|lung(10)|ovary(1)	13						c.(499-501)caG>caT		doublesex and mab-3 related transcription factor 1							49.0	43.0	45.0					9																	847106		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:847106G>T	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.501G>T	9.37:g.847106G>T	ENSP00000371711:p.Gln167His					DMRT1_ENST00000569227.1_Missense_Mutation_p.Q9H	p.Q167H	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	2	650	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	167					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.501G>T	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908389	0.33721	.	.	ENSG00000137090	ENST00000382276	T	0.18810	2.19	4.8	3.9	0.45041	.	1.441650	0.04171	N	0.324722	T	0.33760	0.0874	L	0.45285	1.41	0.30040	N	0.812651	D;B	0.61697	0.99;0.006	P;B	0.59288	0.855;0.016	T	0.05599	-1.0875	10	0.42905	T	0.14	.	5.3827	0.16199	0.1814:0.1671:0.6516:0.0	.	167;167	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	H	167	ENSP00000371711:Q167H	ENSP00000371711:Q167H	Q	+	3	2	DMRT1	837106	0.999000	0.42202	0.786000	0.31890	0.451000	0.32288	0.949000	0.29109	1.025000	0.39708	0.655000	0.94253	CAG		0.627	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		29	217	1	0	3.99451e-17	1	4.40333e-17	29	217				
NISCH	11188	broad.mit.edu	37	3	52526255	52526255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52526255G>A	ENST00000479054.1	+	22	4344	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q	NISCH_ENST00000345716.4_Silent_p.Q1424Q			Q9Y2I1	NISCH_HUMAN	nischarin	1424					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGGGCTACCAGACCTACCCGC	0.652																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4270-4272)caG>caA		nischarin							112.0	109.0	110.0					3																	52526255		2203	4298	6501	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526255G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4272G>A	3.37:g.52526255G>A						NISCH_ENST00000479054.1_Silent_p.Q1424Q	p.Q1424Q	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4406	+			1424					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.4272G>A	CCDS33767.1																																																																																				0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		235	921	0	0	0	1	0	235	921				
FCRL3	115352	broad.mit.edu	37	1	157667073	157667073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157667073G>A	ENST00000368184.3	-	6	992	c.701C>T	c.(700-702)aCc>aTc	p.T234I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	234	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAATCCGAGGGTCTGGCTATC	0.582																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(700-702)aCc>aTc		Fc receptor-like 3							92.0	92.0	92.0					1																	157667073		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667073G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.701C>T	1.37:g.157667073G>A	ENSP00000357167:p.Thr234Ile					FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I	p.T234I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			6	992	-	all_hematologic(112;0.0378)		234			Ig-like C2-type 3.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.701C>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	5.341	0.248244	0.10130	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12255	2.7;2.7	5.54	-1.18	0.09617	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	4.119430	0.00597	N	0.000368	T	0.02342	0.0072	L	0.38733	1.17	0.09310	N	1	B;B	0.28713	0.057;0.22	B;B	0.29663	0.105;0.092	T	0.28618	-1.0038	10	0.10111	T	0.7	.	1.2899	0.02058	0.3018:0.2438:0.3299:0.1245	.	234;234	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	234	ENSP00000357169:T234I;ENSP00000357167:T234I	ENSP00000292392:T234I	T	-	2	0	FCRL3	155933697	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.179000	0.03090	-0.205000	0.10219	0.491000	0.48974	ACC		0.582	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		119	392	0	0	0	1	0	119	392				
F2	2147	broad.mit.edu	37	11	46744800	46744800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46744800C>T	ENST00000311907.5	+	5	443	c.387C>T	c.(385-387)tgC>tgT	p.C129C	F2_ENST00000530231.1_Silent_p.C129C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	129	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GCATTGAGTGCCAGCTATGGA	0.607																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(385-387)tgC>tgT		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						122.0	115.0	118.0					11																	46744800		2201	4299	6500	SO:0001819	synonymous_variant	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46744800C>T	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.387C>T	11.37:g.46744800C>T						F2_ENST00000530231.1_Silent_p.C129C	p.C129C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	5	443	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	129			Kringle 1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	ENST00000311907.5	37	c.387C>T	CCDS31476.1																																																																																				0.607	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			33	741	0	0	0	1	0	33	741				
PTPRF	5792	broad.mit.edu	37	1	44056913	44056913	+	Missense_Mutation	SNP	G	G	A	rs373662568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056913G>A	ENST00000359947.4	+	9	1560	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	PTPRF_ENST00000372413.3_Missense_Mutation_p.R407H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R407H|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Missense_Mutation_p.R407H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCGGGCACGCACGGGAGAA	0.701																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1219-1221)cGc>cAc		protein tyrosine phosphatase, receptor type, F		G	HIS/ARG,HIS/ARG	1,4383		0,1,2191	12.0	13.0	13.0		1220,1220	5.5	1.0	1		13	0,8550		0,0,4275	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	29,29	0,1,6466	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	407/1908,407/1899	44056913	1,12933	2192	4275	6467	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056913G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1220G>A	1.37:g.44056913G>A	ENSP00000353030:p.Arg407His					PTPRF_ENST00000372414.3_Missense_Mutation_p.R407H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R407H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R407H	p.R407H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			9	1560	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	407			Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1220G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.091682|4.091682	0.76756|0.76756	2.28E-4|2.28E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	.|T;T;T;T	.|0.56776	.|0.44;0.44;0.44;0.44	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.34555	.|N	.|0.003863	T|T	0.73187|0.73187	0.3555|0.3555	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.992	.|D;P	.|0.79784	.|0.993;0.835	T|T	0.76130|0.76130	-0.3072|-0.3072	5|10	.|0.66056	.|D	.|0.02	.|.	13.0068|13.0068	0.58710|0.58710	0.0737:0.0:0.9262:0.0|0.0737:0.0:0.9262:0.0	.|.	.|407;407	.|P10586-2;P10586	.|.;PTPRF_HUMAN	T|H	64|407	.|ENSP00000353030:R407H;ENSP00000398822:R407H;ENSP00000361491:R407H;ENSP00000361490:R407H	.|ENSP00000353030:R407H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43829500|43829500	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.961000|0.961000	0.63080|0.63080	5.813000|5.813000	0.69201|0.69201	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.701	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			12	79	0	0	0	1	0	12	79				
PLXNA4	91584	broad.mit.edu	37	7	131829899	131829899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131829899C>T	ENST00000359827.3	-	29	6166	c.5204G>A	c.(5203-5205)cGc>cAc	p.R1735H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H			Q9HCM2	PLXA4_HUMAN	plexin A4	1735					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGGTATGGCGGACGTGCGG	0.592																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5203-5205)cGc>cAc		plexin A4							69.0	74.0	72.0					7																	131829899		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131829899C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5204G>A	7.37:g.131829899C>T	ENSP00000352882:p.Arg1735His					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H	p.R1735H			Q9HCM2	PLXA4_HUMAN			29	6166	-			1735					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5204G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995290	0.74703	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11604	2.76;2.76	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055041	0.64402	D	0.000003	T	0.34308	0.0893	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.06058	-1.0848	10	0.59425	D	0.04	.	18.3526	0.90343	0.0:1.0:0.0:0.0	.	1735	Q9HCM2	PLXA4_HUMAN	H	1735	ENSP00000323194:R1735H;ENSP00000352882:R1735H	ENSP00000323194:R1735H	R	-	2	0	PLXNA4	131480439	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	7.776000	0.85560	2.426000	0.82243	0.561000	0.74099	CGC		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		34	278	0	0	0	1	0	34	278				
RPL10A	4736	broad.mit.edu	37	6	35438416	35438416	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35438416T>A	ENST00000322203.6	+	6	570	c.543T>A	c.(541-543)taT>taA	p.Y181*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	181					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						AGCTTGTGTATAACATTCACC	0.502																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(541-543)taT>taA		ribosomal protein L10a							135.0	122.0	126.0					6																	35438416		2203	4300	6503	SO:0001587	stop_gained	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438416T>A	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.543T>A	6.37:g.35438416T>A	ENSP00000363018:p.Tyr181*					RPL10A_ENST00000467020.1_3'UTR	p.Y181*	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			6	570	+			181					B2R801|P52859|P53025|Q5TZT6|Q8J013	Nonsense_Mutation	SNP	ENST00000322203.6	37	c.543T>A	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728087	0.48833	.	.	ENSG00000198755	ENST00000322203	.	.	.	4.67	-0.317	0.12736	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	8.8598	0.35249	0.0:0.5867:0.0:0.4133	.	.	.	.	X	181	.	ENSP00000363018:Y181X	Y	+	3	2	RPL10A	35546394	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	1.733000	0.38156	-0.163000	0.10946	-0.441000	0.05720	TAT		0.502	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		10	334	0	0	0	1	0	10	334				
NEUROD1	4760	broad.mit.edu	37	2	182543157	182543157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182543157C>T	ENST00000295108.3	-	2	888	c.431G>A	c.(430-432)cGc>cAc	p.R144H	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	144	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R144L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTGGCCAAGCGCAGAGTCTC	0.567																																						ENST00000295108.3																			1	Substitution - Missense(1)	p.R144L(1)	endometrium(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(430-432)cGc>cAc		neuronal differentiation 1							77.0	75.0	76.0					2																	182543157		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543157C>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.431G>A	2.37:g.182543157C>T	ENSP00000295108:p.Arg144His					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.R144H	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	888	-			144			Helix-loop-helix motif.		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.431G>A	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133671	0.77662	.	.	ENSG00000162992	ENST00000295108	D	0.98249	-4.82	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	-7.4311	19.4236	0.94732	0.0:1.0:0.0:0.0	.	144	Q13562	NDF1_HUMAN	H	144	ENSP00000295108:R144H	ENSP00000295108:R144H	R	-	2	0	NEUROD1	182251402	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC		0.567	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		49	435	0	0	0	1	0	49	435				
PRKCB	5579	broad.mit.edu	37	16	24226007	24226007	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24226007G>A	ENST00000321728.7	+	17	2038				PRKCB_ENST00000303531.7_Missense_Mutation_p.R631Q	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AACTTCGACCGATTTTTCACC	0.423																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1891-1893)cGa>cAa		protein kinase C, beta	Vitamin E(DB00163)						78.0	73.0	75.0					16																	24226007		2197	4300	6497	SO:0001627	intron_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24226007G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1864-5275G>A	16.37:g.24226007G>A						PRKCB_ENST00000321728.7_Intron	p.R631Q	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			17	2044	+			632			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1892G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374108	0.42105	.	.	ENSG00000166501	ENST00000303531	T	0.57107	0.42	5.96	5.01	0.66863	.	0.427505	0.21230	N	0.077981	T	0.34890	0.0913	.	.	.	0.47308	D	0.999382	B	0.22746	0.074	B	0.16722	0.016	T	0.12604	-1.0541	9	0.13853	T	0.58	.	10.1985	0.43069	0.1518:0.0:0.8482:0.0	.	631	P05771-2	.	Q	631	ENSP00000305355:R631Q	ENSP00000305355:R631Q	R	+	2	0	PRKCB	24133508	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.521000	0.67086	1.536000	0.49237	0.655000	0.94253	CGA		0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		12	327	0	0	0	1	0	12	327				
SMAD7	4092	broad.mit.edu	37	18	46448083	46448083	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448083G>A	ENST00000262158.2	-	4	1226	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W|SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATTTTGCTCCGCACCTTCTGC	0.557																																						ENST00000262158.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(940-942)Cgg>Tgg		SMAD family member 7							78.0	59.0	65.0					18																	46448083		2203	4300	6503	SO:0001583	missense	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46448083G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.940C>T	18.37:g.46448083G>A	ENSP00000262158:p.Arg314Trp					SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W	p.R314W	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1226	-	Colorectal(1;0.0518)		314			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.940C>T	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796564	0.70567	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.99698	-6.44	5.66	4.78	0.61160	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97312	0.9938	10	0.87932	D	0	.	16.1773	0.81862	0.0:0.0:0.866:0.134	.	314;126	O15105;B3KYA8	SMAD7_HUMAN;.	W	99;314	ENSP00000262158:R314W	ENSP00000262158:R314W	R	-	1	2	SMAD7	44702081	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.740000	0.74832	1.359000	0.45940	0.591000	0.81541	CGG		0.557	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		48	255	0	0	0	1	0	48	255				
ITPKB	3707	broad.mit.edu	37	1	226835077	226835077	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835077A>C	ENST00000272117.3	-	3	2036	c.2037T>G	c.(2035-2037)agT>agG	p.S679R	ITPKB_ENST00000429204.1_Missense_Mutation_p.S679R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	679					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCCTTGAAACTCCCTGGAG	0.622																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2035-2037)agT>agG		inositol-trisphosphate 3-kinase B							46.0	45.0	45.0					1																	226835077		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226835077A>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2037T>G	1.37:g.226835077A>C	ENSP00000272117:p.Ser679Arg					ITPKB_ENST00000272117.3_Missense_Mutation_p.S679R	p.S679R	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			4	2364	-		Prostate(94;0.0773)	679					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2037T>G	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589483	0.66105	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14266	2.52;2.52	5.19	-3.39	0.04868	.	0.039060	0.85682	D	0.000000	T	0.27765	0.0683	M	0.61703	1.905	0.52099	D	0.999941	D	0.89917	1.0	D	0.73708	0.981	T	0.01977	-1.1236	10	0.72032	D	0.01	-15.5533	12.5148	0.56026	0.7588:0.0:0.2412:0.0	.	679	P27987	IP3KB_HUMAN	R	679	ENSP00000272117:S679R;ENSP00000411152:S679R	ENSP00000272117:S679R	S	-	3	2	ITPKB	224901700	0.028000	0.19301	0.987000	0.45799	0.809000	0.45718	-0.661000	0.05311	-0.545000	0.06224	0.533000	0.62120	AGT		0.622	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		24	94	0	0	0	1	0	24	94				
SYTL3	94120	broad.mit.edu	37	6	159178373	159178373	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178373G>A	ENST00000297239.9	+	13	1462	c.1268G>A	c.(1267-1269)aGc>aAc	p.S423N	SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N|SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	423					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTTGAAGACAGCACAACACAG	0.557																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1267-1269)aGc>aAc		synaptotagmin-like 3							98.0	83.0	88.0					6																	159178373		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178373G>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1268G>A	6.37:g.159178373G>A	ENSP00000297239:p.Ser423Asn					SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N|SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N	p.S423N			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	13	1462	+		Breast(66;0.000776)|Ovarian(120;0.0303)	423					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1268G>A	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394752	0.42512	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.62941	3.15;3.15;-0.01	5.07	2.29	0.28610	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.697915	0.14583	N	0.310734	T	0.28732	0.0712	L	0.53249	1.67	0.09310	N	1	B;B;B	0.21071	0.051;0.017;0.03	B;B;B	0.15484	0.01;0.007;0.013	T	0.22661	-1.0210	10	0.12766	T	0.61	.	7.9026	0.29744	0.4606:0.0:0.5394:0.0	.	149;423;355	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	N	355;423;423;149	ENSP00000353631:S355N;ENSP00000297239:S423N;ENSP00000356048:S149N	ENSP00000297239:S423N	S	+	2	0	SYTL3	159098361	0.739000	0.28196	0.000000	0.03702	0.442000	0.32017	1.354000	0.34056	0.538000	0.28769	0.491000	0.48974	AGC		0.557	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			24	358	0	0	0	1	0	24	358				
GPC4	2239	broad.mit.edu	37	X	132445370	132445370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132445370G>A	ENST00000370828.3	-	4	1317	c.793C>T	c.(793-795)Cca>Tca	p.P265S	GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	265					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTGTAACATGGCTTCACAGTC	0.468																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(793-795)Cca>Tca		glypican 4							165.0	151.0	156.0					X																	132445370		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132445370G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.793C>T	X.37:g.132445370G>A	ENSP00000359864:p.Pro265Ser					GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	p.P265S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			4	1317	-	Acute lymphoblastic leukemia(192;0.000127)		265					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.793C>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554225	0.86231	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.61040	0.14;0.14	5.61	5.61	0.85477	Glypican, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.89095	3.005	0.80722	D	1	D	0.62365	0.991	D	0.63283	0.913	D	0.83379	0.0011	10	0.72032	D	0.01	-6.6642	17.5641	0.87914	0.0:0.0:1.0:0.0	.	265	O75487	GPC4_HUMAN	S	265;259;195	ENSP00000359864:P265S;ENSP00000444959:P195S	ENSP00000359864:P265S	P	-	1	0	GPC4	132273036	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.629000	0.74267	2.363000	0.80096	0.600000	0.82982	CCA		0.468	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		152	536	0	0	0	1	0	152	536				
NOS2	4843	broad.mit.edu	37	17	26091072	26091072	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26091072G>A	ENST00000313735.6	-	21	2760	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	843	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AGCTTTTGGAGCAGCAGCTGG	0.627																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(2527-2529)Ctc>Ttc		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						30.0	33.0	32.0					17																	26091072		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26091072G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2527C>T	17.37:g.26091072G>A	ENSP00000327251:p.Leu843Phe						p.L843F	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			21	2760	-			843			FAD-binding FR-type.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.2527C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199369	0.58126	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.40225	1.04	5.23	4.26	0.50523	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000004	T	0.59224	0.2178	L	0.58583	1.82	0.51012	D	0.9999	D	0.89917	1.0	D	0.97110	1.0	T	0.62243	-0.6895	10	0.87932	D	0	.	12.4192	0.55510	0.0823:0.0:0.9177:0.0	.	843	P35228	NOS2_HUMAN	F	843;804	ENSP00000327251:L843F	ENSP00000327251:L843F	L	-	1	0	NOS2	23115199	1.000000	0.71417	0.994000	0.49952	0.393000	0.30537	8.026000	0.88783	1.198000	0.43158	0.462000	0.41574	CTC		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		32	127	0	0	0	1	0	32	127				
IGHV3-30	28439	broad.mit.edu	37	14	106791066	106791066	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106791066G>A	ENST00000390613.2	-	0	369									immunoglobulin heavy variable 3-30																		CAGATACAGCGTGTTCTTGGA	0.483																																						ENST00000390613.2																			0																				245.0	306.0	286.0					14																	106791066		2083	4236	6319			0							g.chr14:106791066G>A	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791066G>A														0	369	-									RNA	SNP	ENST00000390613.2	37																																																																																						0.483	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		235	3537	0	0	0	1	0	235	3537				
TRMT11	60487	broad.mit.edu	37	6	126342391	126342391	+	Missense_Mutation	SNP	C	C	T	rs143525602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126342391C>T	ENST00000334379.5	+	12	1346	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409C	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CACATCAAGGCGCTTGATCAC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		20119	0.001		0.0	False		,,,				2504	0.0					ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1225-1227)Cgc>Tgc		tRNA methyltransferase 11 homolog (S. cerevisiae)		C	CYS/ARG	0,4406		0,0,2203	81.0	78.0	79.0		1225	5.7	1.0	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRMT11	NM_001031712.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	409/464	126342391	1,13005	2203	4300	6503	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126342391C>T	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.1225C>T	6.37:g.126342391C>T	ENSP00000333934:p.Arg409Cys					TRMT11_ENST00000368332.3_Missense_Mutation_p.R409C	p.R409C	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	12	1346	+			409					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.1225C>T	CCDS35496.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.8	4.340821	0.81911	0.0	1.16E-4	ENSG00000066651	ENST00000334379;ENST00000368332	T;T	0.56444	0.47;0.46	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.877	T	0.72827	-0.4175	10	0.54805	T	0.06	-1.4668	13.9605	0.64175	0.0:0.9274:0.0:0.0726	.	409;409	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	C	409	ENSP00000333934:R409C;ENSP00000357316:R409C	ENSP00000333934:R409C	R	+	1	0	TRMT11	126384084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.745000	0.62125	2.669000	0.90835	0.585000	0.79938	CGC		0.403	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		24	306	0	0	0	1	0	24	306				
MMRN1	22915	broad.mit.edu	37	4	90856522	90856522	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90856522T>C	ENST00000394980.1	+	7	2010	c.1691T>C	c.(1690-1692)tTt>tCt	p.F564S	MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S			Q13201	MMRN1_HUMAN	multimerin 1	564					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTGCAAATGTTTGAAGATTTG	0.383																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(1690-1692)tTt>tCt		multimerin 1							69.0	71.0	70.0					4																	90856522		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856522T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1691T>C	4.37:g.90856522T>C	ENSP00000378431:p.Phe564Ser					MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S	p.F564S			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2010	+		Hepatocellular(203;0.114)	564					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1691T>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	2.832	-0.242392	0.05906	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68765	-0.02;-0.02;-0.35	5.12	-1.87	0.07737	.	0.556954	0.18268	N	0.146411	T	0.44726	0.1307	L	0.31294	0.92	0.09310	N	0.999999	B	0.14805	0.011	B	0.08055	0.003	T	0.17684	-1.0361	10	0.33940	T	0.23	.	4.6722	0.12694	0.2727:0.3577:0.0:0.3696	.	564	Q13201	MMRN1_HUMAN	S	564;564;306	ENSP00000378431:F564S;ENSP00000264790:F564S;ENSP00000426461:F306S	ENSP00000264790:F564S	F	+	2	0	MMRN1	91075545	0.229000	0.23729	0.001000	0.08648	0.052000	0.14988	0.727000	0.25999	-0.075000	0.12798	0.482000	0.46254	TTT		0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		70	290	0	0	0	1	0	70	290				
ZNF76	7629	broad.mit.edu	37	6	35255528	35255528	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35255528T>C	ENST00000373953.3	+	5	604	c.338T>C	c.(337-339)gTa>gCa	p.V113A	ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATCCTGGCCGTACAGACAGAG	0.607																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(337-339)gTa>gCa		zinc finger protein 76							105.0	91.0	95.0					6																	35255528		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255528T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.338T>C	6.37:g.35255528T>C	ENSP00000363064:p.Val113Ala					ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A	p.V113A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			5	604	+			113					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.338T>C	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146691	0.37923	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.09445	2.98;3.01;2.99;3.0	5.17	5.17	0.71159	.	0.000000	0.38897	N	0.001531	T	0.12518	0.0304	L	0.39397	1.21	0.45852	D	0.998718	P;D;B;B	0.61697	0.745;0.99;0.093;0.029	B;P;B;B	0.57371	0.251;0.819;0.026;0.012	T	0.01130	-1.1442	10	0.72032	D	0.01	.	14.3428	0.66639	0.0:0.0:0.0:1.0	.	113;113;113;113	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	A	113;113;113;113;87;113	ENSP00000419106:V113A;ENSP00000363064:V113A;ENSP00000392243:V87A;ENSP00000344097:V113A	ENSP00000229405:V113A	V	+	2	0	ZNF76	35363506	1.000000	0.71417	0.980000	0.43619	0.001000	0.01503	7.493000	0.81493	2.167000	0.68274	0.533000	0.62120	GTA		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		41	171	0	0	0	1	0	41	171				
ARHGEF12	23365	broad.mit.edu	37	11	120348237	120348237	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120348237T>C	ENST00000397843.2	+	36	3698		c.e36+2		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGAGTCCAGGTACACTCTTCT	0.423			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.e36+2		Rho guanine nucleotide exchange factor (GEF) 12							89.0	89.0	89.0					11																	120348237		1900	4125	6025	SO:0001630	splice_region_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120348237T>C	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3532+2T>C	11.37:g.120348237T>C						ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site		NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	36	3698	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)						O15086|Q6P526	Splice_Site	SNP	ENST00000397843.2	37		CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175037	0.38413	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2739	0.60177	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF12	119853447	1.000000	0.71417	0.982000	0.44146	0.403000	0.30841	4.499000	0.60380	1.936000	0.56123	0.477000	0.44152	.		0.423	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	Intron	23	183	0	0	0	1	0	23	183				
HERC2P9	440248	broad.mit.edu	37	15	28929529	28929529	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28929529G>A	ENST00000528584.1	+	0	2066					NR_036443.1				hect domain and RLD 2 pseudogene 9																		CTCATCACACGCCCTGCAGGA	0.562																																						ENST00000528584.1																			0																																																			0							g.chr15:28929529G>A	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929529G>A								NR_036443.1						0	2066	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.562	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		6	48	0	0	0	1	0	6	48				
ADCY10	55811	broad.mit.edu	37	1	167793999	167793999	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793999A>T	ENST00000367851.4	-	27	4029	c.3845T>A	c.(3844-3846)aTc>aAc	p.I1282N	ADCY10_ENST00000367848.1_Missense_Mutation_p.I1190N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1282					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGGTTGAAGATGTGCTCCAT	0.488																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3568-3570)aTc>aAc		adenylate cyclase 10 (soluble)							205.0	196.0	199.0					1																	167793999		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167793999A>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3845T>A	1.37:g.167793999A>T	ENSP00000356825:p.Ile1282Asn					ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N|ADCY10_ENST00000367851.4_Missense_Mutation_p.I1282N|ADCY10_ENST00000485964.1_5'UTR	p.I1190N			Q96PN6	ADCYA_HUMAN			27	4066	-			1282					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3569T>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812902	0.32053	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.31769	1.48;1.48;1.48	5.75	3.48	0.39840	.	0.620825	0.15231	N	0.273386	T	0.13670	0.0331	L	0.47716	1.5	0.28843	N	0.896489	P;P	0.48503	0.911;0.855	B;B	0.42422	0.387;0.216	T	0.07177	-1.0786	9	0.66056	D	0.02	-10.1174	6.5536	0.22448	0.8182:0.0:0.1818:0.0	.	1190;1282	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1129;183;1282;1190	ENSP00000441992:I1129N;ENSP00000356825:I1282N;ENSP00000356822:I1190N	ENSP00000271426:I183N	I	-	2	0	ADCY10	166060623	0.016000	0.18221	0.052000	0.19188	0.540000	0.34992	1.456000	0.35201	1.021000	0.39600	0.533000	0.62120	ATC		0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		159	772	0	0	0	1	0	159	772				
DYRK1B	9149	broad.mit.edu	37	19	40316827	40316827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316827C>A	ENST00000593685.1	-	10	1979	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	504	Interaction with RANBP9.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TACCTGGGGGCTGTTCATCTC	0.597																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1510-1512)aGc>aTc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							46.0	50.0	49.0					19																	40316827		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316827C>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1511G>T	19.37:g.40316827C>A	ENSP00000469863:p.Ser504Ile					DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I	p.S504I			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		10	1979	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		504			Interaction with RANBP9.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1511G>T	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141557	0.57044	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.59502	0.26;0.3;0.26	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	L	0.29908	0.895	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.69250	-0.5194	10	0.72032	D	0.01	.	14.0031	0.64446	0.0:1.0:0.0:0.0	.	464;504;476	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	I	504;476;464	ENSP00000312789:S504I;ENSP00000221803:S476I;ENSP00000403182:S464I	ENSP00000312789:S504I	S	-	2	0	DYRK1B	45008667	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.875000	0.75551	1.847000	0.53656	0.462000	0.41574	AGC		0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		68	297	1	0	1.49552e-23	1	1.70131e-23	68	297				
CLASRP	11129	broad.mit.edu	37	19	45556400	45556400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45556400G>A	ENST00000221455.3	+	5	442	c.344G>A	c.(343-345)cGc>cAc	p.R115H	CLASRP_ENST00000391953.4_Missense_Mutation_p.R53H|CLASRP_ENST00000544944.2_Missense_Mutation_p.R115H	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	115					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AACTACGAGCGCTACAGAGGC	0.582																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(343-345)cGc>cAc		CLK4-associating serine/arginine rich protein							87.0	72.0	77.0					19																	45556400		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556400G>A	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.344G>A	19.37:g.45556400G>A	ENSP00000221455:p.Arg115His					CLASRP_ENST00000221455.3_Missense_Mutation_p.R115H|CLASRP_ENST00000391953.4_Missense_Mutation_p.R53H	p.R115H			Q8N2M8	CLASR_HUMAN			4	1036	+			115					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.344G>A	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616780	0.87359	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.67	4.67	0.58626	Splicing factor, suppressor of white apricot (1);	0.000000	0.35772	U	0.002990	T	0.68668	0.3026	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.927;0.999;1.0	T	0.75342	-0.3351	10	0.87932	D	0	-16.5576	15.1245	0.72472	0.0:0.0:1.0:0.0	.	53;115;115	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	H	115;115;53;115	ENSP00000221455:R115H;ENSP00000375814:R115H;ENSP00000375815:R53H;ENSP00000438702:R115H	ENSP00000221455:R115H	R	+	2	0	CLASRP	50248240	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	9.230000	0.95299	2.431000	0.82371	0.591000	0.81541	CGC		0.582	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		49	267	0	0	0	1	0	49	267				
USP24	23358	broad.mit.edu	37	1	55563334	55563334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55563334G>A	ENST00000294383.6	-	48	5651	c.5652C>T	c.(5650-5652)caC>caT	p.H1884H	USP24_ENST00000407756.1_Silent_p.H1724H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1884	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATCTCATTAGGTGAATTACCA	0.338																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(5650-5652)caC>caT		ubiquitin specific peptidase 24							39.0	36.0	37.0					1																	55563334		1802	4065	5867	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55563334G>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5652C>T	1.37:g.55563334G>A						USP24_ENST00000407756.1_Silent_p.H1724H	p.H1884H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			48	5651	-			1884					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.5652C>T	CCDS44154.2																																																																																				0.338	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	37	0	0	0	1	0	4	37				
NCK2	8440	broad.mit.edu	37	2	106509467	106509467	+	Silent	SNP	G	G	A	rs372072439		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106509467G>A	ENST00000233154.4	+	5	1420	c.978G>A	c.(976-978)gcG>gcA	p.A326A	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	326	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CCCTTAAAGCGTCAGGGAAGA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14992	0.0		0.0	False		,,,				2504	0.0					ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(976-978)gcG>gcA		NCK adaptor protein 2		G	,,	0,4406		0,0,2203	96.0	85.0	88.0		978,,978	-3.8	0.9	2		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	NCK2	NM_001004720.2,NM_001004722.3,NM_003581.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	326/381,,326/381	106509467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106509467G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.978G>A	2.37:g.106509467G>A						NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A	p.A326A	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			5	1420	+			326			SH2.		D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	c.978G>A	CCDS33266.1																																																																																				0.557	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		86	233	0	0	0	1	0	86	233				
ATRN	8455	broad.mit.edu	37	20	3564588	3564588	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3564588G>T	ENST00000262919.5	+	17	2876	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	936	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCCTTGAGGACAGCATGTG	0.547																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2806-2808)agG>agT		attractin							268.0	229.0	242.0					20																	3564588		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3564588G>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2808G>T	20.37:g.3564588G>T	ENSP00000262919:p.Arg936Ser					ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	p.R936S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			17	2876	+			936			PSI 3.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2808G>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455521	0.63401	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.17054	3.24;2.3	5.64	2.66	0.31614	.	0.047709	0.85682	D	0.000000	T	0.33585	0.0868	M	0.69463	2.115	0.53688	D	0.999976	P;D	0.89917	0.757;1.0	B;D	0.83275	0.155;0.996	T	0.02031	-1.1226	10	0.31617	T	0.26	-17.2408	8.0937	0.30816	0.1629:0.117:0.7201:0.0	.	936;936	O75882;O75882-2	ATRN_HUMAN;.	S	936;936;862	ENSP00000262919:R936S;ENSP00000416587:R936S	ENSP00000262919:R936S	R	+	3	2	ATRN	3512588	0.999000	0.42202	0.978000	0.43139	0.990000	0.78478	0.881000	0.28173	0.331000	0.23511	0.585000	0.79938	AGG		0.547	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		182	804	1	0	1.50726e-91	1	1.93564e-91	182	804				
KIAA1217	56243	broad.mit.edu	37	10	24508579	24508579	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24508579T>C	ENST00000376454.3	+	2	125	c.95T>C	c.(94-96)gTa>gCa	p.V32A	KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A|KIAA1217_ENST00000376462.1_5'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	32					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATCTGCATGTAACATCACCA	0.428																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(94-96)gTa>gCa		KIAA1217							61.0	52.0	55.0					10																	24508579		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24508579T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.95T>C	10.37:g.24508579T>C	ENSP00000365637:p.Val32Ala					KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A	p.V32A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			2	125	+			32					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.95T>C	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706174	0.30232	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.87	3.52	0.40303	.	0.362629	0.20046	N	0.100403	T	0.43077	0.1231	L	0.34521	1.04	0.27381	N	0.955423	B;B;B;B	0.18310	0.003;0.001;0.027;0.003	B;B;B;B	0.16289	0.015;0.007;0.015;0.009	T	0.30765	-0.9967	10	0.05833	T	0.94	.	8.2229	0.31552	0.0:0.0671:0.3822:0.5507	.	32;32;32;32	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	A	32	ENSP00000365639:V32A;ENSP00000392625:V32A;ENSP00000365637:V32A;ENSP00000365635:V32A	ENSP00000365635:V32A	V	+	2	0	KIAA1217	24548585	0.998000	0.40836	0.329000	0.25429	0.565000	0.35776	2.851000	0.48302	0.476000	0.27440	0.533000	0.62120	GTA		0.428	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		30	114	0	0	0	1	0	30	114				
C20orf27	54976	broad.mit.edu	37	20	3735096	3735096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3735096G>A	ENST00000379772.3	-	5	1182	c.372C>T	c.(370-372)tgC>tgT	p.C124C	C20orf27_ENST00000217195.8_Silent_p.C149C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	124										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGCCACCTTCGCAGGCTAGCA	0.607																																						ENST00000379772.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						c.(370-372)tgC>tgT		chromosome 20 open reading frame 27							128.0	105.0	113.0					20																	3735096		2203	4300	6503	SO:0001819	synonymous_variant	54976							g.chr20:3735096G>A	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.372C>T	20.37:g.3735096G>A						C20orf27_ENST00000217195.8_Silent_p.C149C	p.C124C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN			5	1182	-			124					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Silent	SNP	ENST00000379772.3	37	c.372C>T	CCDS58763.1																																																																																				0.607	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		98	500	0	0	0	1	0	98	500				
FAM166B	730112	broad.mit.edu	37	9	35563812	35563812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35563812C>A	ENST00000399742.2	-	1	84	c.14G>T	c.(13-15)aGc>aTc	p.S5I	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	5										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TATGAAGGTGCTGGCCACAGC	0.577																																						ENST00000399742.2																			0				kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						c.(13-15)aGc>aTc		family with sequence similarity 166, member B							83.0	89.0	87.0					9																	35563812		1922	4140	6062	SO:0001583	missense	730112							g.chr9:35563812C>A	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.14G>T	9.37:g.35563812C>A	ENSP00000382646:p.Ser5Ile					FAM166B_ENST00000492890.1_5'UTR	p.S5I	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN			1	84	-			5					A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	c.14G>T	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292916	0.60086	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.4	3.53	0.40419	.	0.689568	0.11534	U	0.554378	T	0.40423	0.1116	N	0.22421	0.69	0.24533	N	0.994109	D;D;P;D	0.67145	0.981;0.996;0.483;0.996	P;P;B;D	0.63877	0.77;0.853;0.163;0.919	T	0.16364	-1.0405	9	0.59425	D	0.04	-5.9631	6.9594	0.24590	0.0:0.7324:0.176:0.0917	.	5;5;5;5	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	I	5	.	ENSP00000382646:S5I	S	-	2	0	FAM166B	35553812	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	1.156000	0.31712	0.808000	0.34231	0.650000	0.86243	AGC		0.577	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		13	181	1	0	6.72482e-11	1	7.15107e-11	13	181				
CHRNB4	1143	broad.mit.edu	37	15	78921496	78921496	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921496C>A	ENST00000261751.3	-	5	1262	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	384					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CATGGAGTTCCCATAGAAGTT	0.647																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(1150-1152)gGg>gTg		cholinergic receptor, nicotinic, beta 4 (neuronal)							53.0	54.0	54.0					15																	78921496		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921496C>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1151G>T	15.37:g.78921496C>A	ENSP00000261751:p.Gly384Val					CHRNB4_ENST00000412074.2_Intron	p.G384V	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	1262	-			384					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.1151G>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	4.005	-0.001711	0.07819	.	.	ENSG00000117971	ENST00000261751	T	0.69926	-0.44	5.3	0.0871	0.14449	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.56717	0.2004	M	0.62088	1.915	0.30273	N	0.792051	B	0.14805	0.011	B	0.21151	0.033	T	0.50303	-0.8844	9	0.25751	T	0.34	.	4.6321	0.12507	0.0:0.3665:0.1614:0.4721	.	384	P30926	ACHB4_HUMAN	V	384	ENSP00000261751:G384V	ENSP00000261751:G384V	G	-	2	0	CHRNB4	76708551	0.000000	0.05858	0.060000	0.19600	0.122000	0.20287	0.259000	0.18405	0.231000	0.21079	-0.136000	0.14681	GGG		0.647	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			44	199	1	0	2.37825e-27	1	2.75276e-27	44	199				
BTBD10	84280	broad.mit.edu	37	11	13438716	13438716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13438716G>A	ENST00000278174.5	-	5	921	c.676C>T	c.(676-678)Cga>Tga	p.R226*	BTBD10_ENST00000532261.1_5'Flank|BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*|BTBD10_ENST00000530907.1_Nonsense_Mutation_p.R234*	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	226	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGAATCGCTCGAAACACAGTG	0.418																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(676-678)Cga>Tga		BTB (POZ) domain containing 10							235.0	208.0	217.0					11																	13438716		2200	4294	6494	SO:0001587	stop_gained	84280					nucleus		g.chr11:13438716G>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.676C>T	11.37:g.13438716G>A	ENSP00000278174:p.Arg226*					BTBD10_ENST00000530907.1_Nonsense_Mutation_p.R234*|BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*	p.R226*	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	5	921	-			226			BTB.		B7Z228|Q86WG1	Nonsense_Mutation	SNP	ENST00000278174.5	37	c.676C>T	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	40	7.961995	0.98583	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.662	19.8331	0.96643	0.0:0.0:1.0:0.0	.	.	.	.	X	226;234;178	.	ENSP00000278174:R226X	R	-	1	2	BTBD10	13395292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.607000	0.54102	2.779000	0.95612	0.650000	0.86243	CGA		0.418	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		131	554	0	0	0	1	0	131	554				
SHPRH	257218	broad.mit.edu	37	6	146214434	146214434	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214434A>G	ENST00000367505.2	-	28	5055	c.4791T>C	c.(4789-4791)acT>acC	p.T1597T	SHPRH_ENST00000367503.3_Silent_p.T1601T|SHPRH_ENST00000438092.2_Silent_p.T1601T|SHPRH_ENST00000275233.7_Silent_p.T1597T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1597	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGAGAACATGAGTTGCTTCAA	0.443																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(4801-4803)acT>acC		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							96.0	93.0	94.0					6																	146214434		1879	4102	5981	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146214434A>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4791T>C	6.37:g.146214434A>G						SHPRH_ENST00000367505.2_Silent_p.T1597T|SHPRH_ENST00000275233.7_Silent_p.T1597T|SHPRH_ENST00000438092.2_Silent_p.T1601T	p.T1601T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	28	5201	-		Ovarian(120;0.0365)	1597			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.4803T>C	CCDS43513.2																																																																																				0.443	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		39	168	0	0	0	1	0	39	168				
GARS	2617	broad.mit.edu	37	7	30640803	30640803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30640803G>A	ENST00000389266.3	+	4	797	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	186					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCTCACCCCTGAGCCAGTTTT	0.368																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(556-558)Gag>Aag		glycyl-tRNA synthetase	Glycine(DB00145)						91.0	86.0	88.0					7																	30640803		1892	4116	6008	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30640803G>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.556G>A	7.37:g.30640803G>A	ENSP00000373918:p.Glu186Lys						p.E186K	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			4	797	+			186					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.556G>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074508	0.94000	.	.	ENSG00000106105	ENST00000389266	T	0.68181	-0.31	5.69	4.77	0.60923	Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.045743	0.85682	D	0.000000	T	0.70622	0.3245	L	0.53671	1.685	0.80722	D	1	D	0.53745	0.962	P	0.50970	0.655	T	0.73924	-0.3829	10	0.72032	D	0.01	-19.5156	15.265	0.73654	0.0:0.141:0.859:0.0	.	186	P41250	SYG_HUMAN	K	186	ENSP00000373918:E186K	ENSP00000373918:E186K	E	+	1	0	GARS	30607328	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.757000	0.98924	2.857000	0.98124	0.650000	0.86243	GAG		0.368	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		77	297	0	0	0	1	0	77	297				
RBM33	155435	broad.mit.edu	37	7	155559212	155559212	+	Missense_Mutation	SNP	C	C	T	rs146087306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155559212C>T	ENST00000401878.3	+	16	3436	c.3238C>T	c.(3238-3240)Cgc>Tgc	p.R1080C	RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1080							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GGGCCGGGGGCGCCTGATGCC	0.612																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(3238-3240)Cgc>Tgc		RNA binding motif protein 33		C	CYS/ARG	0,4406		0,0,2203	35.0	36.0	36.0		3238	5.5	1.0	7	dbSNP_134	36	1,8597	2.2+/-6.3	0,1,4298	yes	missense	RBM33	NM_053043.2	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1080/1171	155559212	1,13003	2203	4299	6502	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155559212C>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.3238C>T	7.37:g.155559212C>T	ENSP00000384160:p.Arg1080Cys					RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	p.R1080C	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	16	3436	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	1080					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.3238C>T	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701164	0.88924	0.0	1.16E-4	ENSG00000184863	ENST00000401878;ENST00000438356;ENST00000341148	T	0.59638	0.25	5.54	5.54	0.83059	.	0.000000	0.40385	U	0.001104	T	0.75466	0.3853	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	0.973;1.0	P;D	0.87578	0.774;0.998	T	0.77112	-0.2708	10	0.87932	D	0	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	798;1080	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	1080;16;16	ENSP00000384160:R1080C	ENSP00000341583:R16C	R	+	1	0	RBM33	155251973	1.000000	0.71417	0.964000	0.40570	0.961000	0.63080	7.117000	0.77129	2.589000	0.87451	0.655000	0.94253	CGC		0.612	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		20	146	0	0	0	1	0	20	146				
PWWP2A	114825	broad.mit.edu	37	5	159546030	159546030	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546030C>T	ENST00000307063.7	-	1	400	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PWWP2A_ENST00000456329.3_Silent_p.E122E|PWWP2A_ENST00000523662.1_Silent_p.E122E	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	122	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGGGGCTGCTCCGGCGGCG	0.746																																						ENST00000456329.3																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(364-366)gaG>gaA		PWWP domain containing 2A							11.0	13.0	13.0					5																	159546030		1804	3926	5730	SO:0001819	synonymous_variant	114825							g.chr5:159546030C>T		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.366G>A	5.37:g.159546030C>T						PWWP2A_ENST00000307063.7_Silent_p.E122E|PWWP2A_ENST00000523662.1_Silent_p.E122E	p.E122E	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	400	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	122			Pro-rich.		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	ENST00000307063.7	37	c.366G>A	CCDS47332.1																																																																																				0.746	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			24	149	0	0	0	1	0	24	149				
CDH22	64405	broad.mit.edu	37	20	44815312	44815312	+	Silent	SNP	G	G	A	rs374703253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815312G>A	ENST00000372262.3	-	9	1978	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CDH22_ENST00000537909.1_Silent_p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTGGGGCTCGTCTCTGTCCA	0.587																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1576-1578)gaC>gaT		cadherin 22, type 2		G		0,4406		0,0,2203	73.0	69.0	70.0		1578	-5.2	1.0	20		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH22	NM_021248.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		526/829	44815312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815312G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1578C>T	20.37:g.44815312G>A						CDH22_ENST00000537909.1_Silent_p.D526D	p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			9	1978	-		Myeloproliferative disorder(115;0.0122)	526			Cadherin 5.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1578C>T	CCDS13395.1																																																																																				0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		66	231	0	0	0	1	0	66	231				
FBXO31	79791	broad.mit.edu	37	16	87377229	87377229	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87377229T>G	ENST00000311635.7	-	4	644	c.632A>C	c.(631-633)aAa>aCa	p.K211T		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	211					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTGGGGCCCTTTGTGGCCGTA	0.637																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(631-633)aAa>aCa		F-box protein 31							48.0	45.0	46.0					16																	87377229		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87377229T>G	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.632A>C	16.37:g.87377229T>G	ENSP00000310841:p.Lys211Thr						p.K211T	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	4	644	-			211					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.632A>C	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674904	0.29783	.	.	ENSG00000103264	ENST00000311635	T	0.70164	-0.46	5.05	-1.46	0.08800	.	0.096351	0.64402	D	0.000001	T	0.49081	0.1536	N	0.24115	0.695	0.39230	D	0.963656	P;P	0.46706	0.883;0.675	B;B	0.42827	0.399;0.381	T	0.45789	-0.9237	10	0.40728	T	0.16	-14.7255	10.9479	0.47312	0.0:0.1776:0.0:0.8224	.	211;103	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	T	211	ENSP00000310841:K211T	ENSP00000310841:K211T	K	-	2	0	FBXO31	85934730	0.994000	0.37717	0.007000	0.13788	0.812000	0.45895	2.197000	0.42696	-0.482000	0.06782	0.533000	0.62120	AAA		0.637	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		20	94	0	0	0	1	0	20	94				
SLC22A23	63027	broad.mit.edu	37	6	3290032	3290032	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3290032G>T	ENST00000406686.3	-	6	1278	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M	SLC22A23_ENST00000436008.2_Missense_Mutation_p.L427M|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L146M|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L146M|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	427					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TTCTTCCACAGGTTCCGTGTC	0.587																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1279-1281)Ctg>Atg		solute carrier family 22, member 23							166.0	126.0	140.0					6																	3290032		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3290032G>T	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1279C>A	6.37:g.3290032G>T	ENSP00000385028:p.Leu427Met					SLC22A23_ENST00000406686.3_Missense_Mutation_p.L427M|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L146M|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L146M|PSMG4_ENST00000451246.2_Intron	p.L427M			A1A5C7	S22AN_HUMAN			6	1741	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	427					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.1279C>A	CCDS47363.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.68|18.68	3.676299|3.676299	0.67928|0.67928	.|.	.|.	ENSG00000180822|ENSG00000137266	ENST00000454610|ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	.|T;T;T;T;T;T	.|0.61510	.|0.1;0.1;0.1;0.1;0.1;0.1	4.33|4.33	4.33|4.33	0.51752|0.51752	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.080436	.|0.52532	.|D	.|0.000078	.|T	.|0.51244	.|0.1663	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.996	.|D;D	.|0.66716	.|0.946;0.946	.|T	.|0.43540	.|-0.9385	.|10	.|0.18276	.|T	.|0.48	.|-14.0855	10.955|10.955	0.47351|0.47351	0.0867:0.0:0.9133:0.0|0.0867:0.0:0.9133:0.0	.|.	.|427;427	.|C9J4Z0;A1A5C7	.|.;S22AN_HUMAN	.|M	-1|427;427;146;146;255;253	.|ENSP00000410245:L427M;ENSP00000385028:L427M;ENSP00000369657:L146M;ENSP00000419463:L146M;ENSP00000418134:L255M;ENSP00000418985:L253M	.|ENSP00000369657:L146M	.|L	+|-	.|1	.|2	PSMG4|SLC22A23	3235031|3235031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	6.097000|6.097000	0.71452|0.71452	2.398000|2.398000	0.81561|0.81561	0.561000|0.561000	0.74099|0.74099	.|CTG		0.587	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		37	178	1	0	3.09479e-21	1	3.48195e-21	37	178				
DEFB119	245932	broad.mit.edu	37	20	29965236	29965236	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29965236C>T	ENST00000376321.3	-	2	187	c.68G>A	c.(67-69)cGc>cAc	p.R23H	SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_Silent_p.T36T	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	23					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.T36T(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGATGTGGCGTTTGCCTGC	0.433																																						ENST00000376321.3																			1	Substitution - coding silent(1)	p.T36T(1)	large_intestine(1)	large_intestine(2)|lung(1)|prostate(1)	4						c.(67-69)cGc>cAc		defensin, beta 119							135.0	127.0	130.0					20																	29965236		2203	4300	6503	SO:0001583	missense	245932				defense response to bacterium	extracellular region		g.chr20:29965236C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.68G>A	20.37:g.29965236C>T	ENSP00000365499:p.Arg23His					DEFB119_ENST00000339144.3_Silent_p.T36T|DEFB119_ENST00000492344.1_5'UTR	p.R23H	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	187	-	all_hematologic(12;0.158)		23					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.68G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	4.463	0.085801	0.08583	.	.	ENSG00000180483	ENST00000376321	T	0.29917	1.55	4.23	-5.42	0.02640	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.26503	-1.0101	8	0.27082	T	0.32	.	7.9032	0.29746	0.0:0.1838:0.1351:0.681	.	23	Q8N690	DB119_HUMAN	H	23	ENSP00000365499:R23H	ENSP00000365499:R23H	R	-	2	0	DEFB119	29428897	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.238000	0.01199	-1.088000	0.03077	-0.136000	0.14681	CGC		0.433	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		82	376	0	0	0	1	0	82	376				
HIPK4	147746	broad.mit.edu	37	19	40889760	40889760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889760C>T	ENST00000291823.2	-	2	1036	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGGGGGTTGCGCTTGAAGAA	0.617																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(751-753)cGc>cAc		homeodomain interacting protein kinase 4							65.0	69.0	68.0					19																	40889760		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40889760C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.752G>A	19.37:g.40889760C>T	ENSP00000291823:p.Arg251His						p.R251H	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	1036	-			251			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.752G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665394	0.88251	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.20463	2.07	5.97	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.442639	0.21619	N	0.071672	T	0.33381	0.0861	L	0.41415	1.275	0.29641	N	0.844739	D	0.63046	0.992	P	0.59643	0.861	T	0.17440	-1.0369	10	0.72032	D	0.01	.	13.5773	0.61881	0.1558:0.8442:0.0:0.0	.	251	Q8NE63	HIPK4_HUMAN	H	251;216	ENSP00000291823:R251H	ENSP00000291823:R251H	R	-	2	0	HIPK4	45581600	0.977000	0.34250	0.999000	0.59377	0.818000	0.46254	2.702000	0.47102	1.472000	0.48140	0.655000	0.94253	CGC		0.617	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		66	329	0	0	0	1	0	66	329				
PURA	5813	broad.mit.edu	37	5	139494240	139494240	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139494240T>G	ENST00000331327.3	+	1	533	c.474T>G	c.(472-474)gaT>gaG	p.D158E		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	158					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACATGGATCTCAAGGAGA	0.706																																						ENST00000331327.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(472-474)gaT>gaG		purine-rich element binding protein A							16.0	20.0	19.0					5																	139494240		2200	4294	6494	SO:0001583	missense	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139494240T>G	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.474T>G	5.37:g.139494240T>G	ENSP00000332706:p.Asp158Glu						p.D158E	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	533	+			158						Missense_Mutation	SNP	ENST00000331327.3	37	c.474T>G	CCDS4220.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769690	0.90020	.	.	ENSG00000185129	ENST00000331327	T	0.50277	0.75	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76203	-0.3045	10	0.59425	D	0.04	-3.9698	14.3864	0.66947	0.0:0.0:0.0:1.0	.	158	Q00577	PURA_HUMAN	E	158	ENSP00000332706:D158E	ENSP00000332706:D158E	D	+	3	2	PURA	139474424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	2.073000	0.62155	0.533000	0.62120	GAT		0.706	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	NM_005859		42	168	0	0	0	1	0	42	168				
ARHGEF25	115557	broad.mit.edu	37	12	58005689	58005689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58005689G>A	ENST00000286494.4	+	1	472	c.12G>A	c.(10-12)ggG>ggA	p.G4G	ARHGEF25_ENST00000333972.7_Intron|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	4						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCGGGGGGGGCACAAAGGGG	0.761																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(10-12)ggG>ggA		Rho guanine nucleotide exchange factor (GEF) 25							11.0	13.0	12.0					12																	58005689		2165	4223	6388	SO:0001819	synonymous_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58005689G>A		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.12G>A	12.37:g.58005689G>A						ARHGEF25_ENST00000333972.7_Intron	p.G4G	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			1	472	+			4					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	ENST00000286494.4	37	c.12G>A	CCDS8947.1																																																																																				0.761	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		17	79	0	0	0	1	0	17	79				
SLC6A6	6533	broad.mit.edu	37	3	14518805	14518805	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518805C>T	ENST00000454876.2	+	11	1631	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	SLC6A6_ENST00000360861.3_Silent_p.F434F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	434					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCATCGCCTTCGTGTGTAGCA	0.522																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1300-1302)ttC>ttT		solute carrier family 6 (neurotransmitter transporter), member 6							161.0	132.0	142.0					3																	14518805		2203	4300	6503	SO:0001819	synonymous_variant	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14518805C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1302C>T	3.37:g.14518805C>T						SLC6A6_ENST00000360861.3_Silent_p.F434F	p.F434F			P31641	SC6A6_HUMAN			11	1631	+			434					B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	c.1302C>T	CCDS33705.1																																																																																				0.522	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		97	367	0	0	0	1	0	97	367				
GATAD2B	57459	broad.mit.edu	37	1	153791334	153791334	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153791334T>G	ENST00000368655.4	-	4	773	c.530A>C	c.(529-531)gAa>gCa	p.E177A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	177	CR1; MBD2- and MBD3-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCGGGCTTCTTCCAATCG	0.478																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(529-531)gAa>gCa		GATA zinc finger domain containing 2B							131.0	129.0	130.0					1																	153791334		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153791334T>G	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.530A>C	1.37:g.153791334T>G	ENSP00000357644:p.Glu177Ala						p.E177A	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	773	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		177			CR1.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.530A>C	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211116	0.95069	.	.	ENSG00000143614	ENST00000368655	T	0.77229	-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.85598	0.1250	10	0.87932	D	0	-8.8656	15.1851	0.72993	0.0:0.0:0.0:1.0	.	177	Q8WXI9	P66B_HUMAN	A	177	ENSP00000357644:E177A	ENSP00000357644:E177A	E	-	2	0	GATAD2B	152057958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.231000	0.72958	0.459000	0.35465	GAA		0.478	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		110	511	0	0	0	1	0	110	511				
KAT2A	2648	broad.mit.edu	37	17	40267794	40267794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40267794G>A	ENST00000225916.5	-	12	1875	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	608	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGAAGTAGAGAATGTTGTGC	0.582																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1822-1824)Ctc>Ttc		K(lysine) acetyltransferase 2A							257.0	233.0	241.0					17																	40267794		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40267794G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1822C>T	17.37:g.40267794G>A	ENSP00000225916:p.Leu608Phe						p.L608F	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			12	1875	-			608			N-acetyltransferase.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1822C>T	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927266	0.92389	.	.	ENSG00000108773	ENST00000225916	T	0.05925	3.37	5.32	5.32	0.75619	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.33485	1.01	0.80722	D	1	D	0.63880	0.993	P	0.61874	0.895	T	0.00842	-1.1544	10	0.56958	D	0.05	-26.4525	18.5847	0.91185	0.0:0.0:1.0:0.0	.	608	Q92830	KAT2A_HUMAN	F	608	ENSP00000225916:L608F	ENSP00000225916:L608F	L	-	1	0	KAT2A	37521320	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.488000	0.83962	0.462000	0.41574	CTC		0.582	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		111	582	0	0	0	1	0	111	582				
ATE1	11101	broad.mit.edu	37	10	123600741	123600741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123600741C>T	ENST00000224652.6	-	9	1098	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	ATE1_ENST00000369043.3_Missense_Mutation_p.G338D|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D|ATE1_ENST00000535655.1_Missense_Mutation_p.G39D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	338					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GTGAAAGGAGCCATAGCCACA	0.408																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1012-1014)gGc>gAc		arginyltransferase 1							46.0	41.0	43.0					10																	123600741		2203	4300	6503	SO:0001583	missense	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123600741C>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1013G>A	10.37:g.123600741C>T	ENSP00000224652:p.Gly338Asp					ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000535655.1_Missense_Mutation_p.G39D|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D|ATE1_ENST00000224652.6_Missense_Mutation_p.G338D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D	p.G338D	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			9	1099	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	338					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.1013G>A	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.393504|5.393504	0.96009|0.96009	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Arginine-tRNA-protein transferase, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86451|.	0.5936|.	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;0.999;1.0;0.999|.	D|.	0.88736|.	0.3240|.	9|.	0.87932|.	D|.	0|.	-17.8215|-17.8215	19.7174|19.7174	0.96129|0.96129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;242;338;338|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|X	338;39;338;242;331;223|334	.|.	ENSP00000224652:G338D|.	G|W	-|-	2|3	0|0	ATE1|ATE1	123590731|123590731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.786000|7.786000	0.85741|0.85741	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.408	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		18	91	0	0	0	1	0	18	91				
BCL11A	53335	broad.mit.edu	37	2	60688595	60688595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688595G>A	ENST00000335712.6	-	4	1679	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000356842.4_Silent_p.D484D|BCL11A_ENST00000538214.1_Silent_p.D450D	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	484	Glu-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cttcctcctcgtccccgttct	0.632			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1450-1452)gaC>gaT		B-cell CLL/lymphoma 11A (zinc finger protein)							17.0	17.0	17.0					2																	60688595		2201	4295	6496	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688595G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1452C>T	2.37:g.60688595G>A						BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.D450D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.D484D	p.D484D	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1679	-			484			Glu-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1452C>T	CCDS1862.1																																																																																				0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		34	97	0	0	0	1	0	34	97				
LRRC16A	55604	broad.mit.edu	37	6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T	rs199969829		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25450163C>T	ENST00000329474.6	+	6	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	137					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.001					ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(409-411)Cgc>Tgc		leucine rich repeat containing 16A							48.0	50.0	49.0					6																	25450163		1846	4086	5932	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450163C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.409C>T	6.37:g.25450163C>T	ENSP00000331983:p.Arg137Cys					LRRC16A_ENST00000377969.3_5'UTR	p.R137C	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			6	777	+			137					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.409C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021304	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.21734	1.99	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.13710	-1.0499	10	0.52906	T	0.07	.	15.3826	0.74673	0.2163:0.7837:0.0:0.0	.	137;137;137	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	137	ENSP00000331983:R137C	ENSP00000331983:R137C	R	+	1	0	LRRC16A	25558142	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.281000	0.33214	2.824000	0.97209	0.655000	0.94253	CGC		0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		26	127	0	0	0	1	0	26	127				
TRIM3	10612	broad.mit.edu	37	11	6477406	6477406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477406C>T	ENST00000525074.1	-	7	1824		c.e7-1		TRIM3_ENST00000345851.3_Splice_Site|TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site|TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3						nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACGACTGCCTGTGGGAAGG	0.537																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.e7-1		tripartite motif containing 3							94.0	86.0	88.0					11																	6477406		2201	4296	6497	SO:0001630	splice_region_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477406C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1430-1G>A	11.37:g.6477406C>T						TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site|TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site|TRIM3_ENST00000345851.3_Splice_Site		NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1824	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)						B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Splice_Site	SNP	ENST00000525074.1	37		CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244253	0.79912	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0997	0.89501	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM3	6433982	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.463000	0.80869	2.610000	0.88304	0.563000	0.77884	.		0.537	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	Intron	62	324	0	0	0	1	0	62	324				
PIP5KL1	138429	broad.mit.edu	37	9	130687515	130687515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130687515C>T	ENST00000388747.4	-	9	832	c.788G>A	c.(787-789)cGc>cAc	p.R263H	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	263	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTCCATCTGGCGGAGGAACCA	0.637																																						ENST00000388747.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						c.(787-789)cGc>cAc		phosphatidylinositol-4-phosphate 5-kinase-like 1							63.0	60.0	61.0					9																	130687515		2203	4300	6503	SO:0001583	missense	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130687515C>T	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.788G>A	9.37:g.130687515C>T	ENSP00000373399:p.Arg263His					PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H|PIP5KL1_ENST00000490773.1_5'UTR	p.R263H	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN			9	832	-			263			PIPK.		Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	37	c.788G>A	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887242	0.52014	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.31769	1.48;1.48	4.95	2.1	0.27182	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.190282	0.44688	N	0.000436	T	0.29061	0.0722	M	0.71036	2.16	0.40546	D	0.981077	B	0.18741	0.03	B	0.19946	0.027	T	0.08659	-1.0711	10	0.51188	T	0.08	-13.9532	5.5359	0.17011	0.1441:0.6667:0.0:0.1892	.	263	Q5T9C9	PI5L1_HUMAN	H	263;60	ENSP00000373399:R263H;ENSP00000300432:R60H	ENSP00000300432:R60H	R	-	2	0	PIP5KL1	129727336	0.708000	0.27876	0.998000	0.56505	0.982000	0.71751	0.489000	0.22387	0.224000	0.20940	0.491000	0.48974	CGC		0.637	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		41	214	0	0	0	1	0	41	214				
IGFBP4	3487	broad.mit.edu	37	17	38610230	38610230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38610230C>T	ENST00000269593.4	+	3	833	c.558C>T	c.(556-558)gcC>gcT	p.A186A	IGFBP4_ENST00000542955.1_Silent_p.A86A	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	186	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCGGCTGGCCGCTTCACAGA	0.642																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(556-558)gcC>gcT		insulin-like growth factor binding protein 4							67.0	67.0	67.0					17																	38610230		2203	4300	6503	SO:0001819	synonymous_variant	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38610230C>T	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.558C>T	17.37:g.38610230C>T						IGFBP4_ENST00000542955.1_Silent_p.A86A	p.A186A	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	833	+		Breast(137;0.000496)	186			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Silent	SNP	ENST00000269593.4	37	c.558C>T	CCDS11367.1																																																																																				0.642	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		93	512	0	0	0	1	0	93	512				
RASGRP3	25780	broad.mit.edu	37	2	33783327	33783327	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783327C>A	ENST00000403687.3	+	16	2369	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	RASGRP3_ENST00000402538.3_Silent_p.A543A|RASGRP3_ENST00000407811.1_Silent_p.A542A|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	543					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTCTGGCCTGCAGGAGAT	0.542																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1627-1629)gcC>gcA		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							60.0	62.0	61.0					2																	33783327		1907	4118	6025	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33783327C>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1629C>A	2.37:g.33783327C>A						RASGRP3_ENST00000402538.3_Silent_p.A543A|RASGRP3_ENST00000407811.1_Silent_p.A542A|AC020594.5_ENST00000437680.1_RNA	p.A543A	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			16	2369	+	all_hematologic(175;0.115)		543					D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.1629C>A	CCDS46256.1																																																																																				0.542	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		23	89	1	0	3.62473e-10	1	3.83521e-10	23	89				
ZNF395	55893	broad.mit.edu	37	8	28217156	28217156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28217156C>A	ENST00000344423.5	-	3	557	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGGCCAGGGCCTGGGCTCCGG	0.617																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(424-426)caG>caT		zinc finger protein 395							46.0	55.0	52.0					8																	28217156		2203	4300	6503	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28217156C>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.426G>T	8.37:g.28217156C>A	ENSP00000340494:p.Gln142His					ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H	p.Q142H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	3	557	-		Ovarian(32;2.06e-05)	142					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.426G>T	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460047	0.43736	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.4	3.45	0.39498	.	0.582668	0.16352	N	0.218191	T	0.77287	0.4108	L	0.43152	1.355	0.09310	N	0.99999	D	0.54964	0.969	P	0.47162	0.54	T	0.66504	-0.5907	10	0.30078	T	0.28	-14.5634	7.2882	0.26352	0.2026:0.6261:0.1713:0.0	.	142	Q9H8N7	ZN395_HUMAN	H	142	ENSP00000340494:Q142H;ENSP00000429640:Q142H;ENSP00000428452:Q142H;ENSP00000427934:Q142H	ENSP00000340494:Q142H	Q	-	3	2	ZNF395	28273075	0.020000	0.18652	0.622000	0.29159	0.657000	0.38888	0.781000	0.26774	2.537000	0.85549	0.555000	0.69702	CAG		0.617	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			136	493	1	0	3.74121e-53	1	4.66092e-53	136	493				
C5	727	broad.mit.edu	37	9	123751958	123751958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123751958G>A	ENST00000223642.1	-	24	3071	c.3042C>T	c.(3040-3042)agC>agT	p.S1014S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1014					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTGGGACAACGCTCATCAGCT	0.433																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3040-3042)agC>agT		complement component 5	Eculizumab(DB01257)						79.0	76.0	77.0					9																	123751958		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123751958G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3042C>T	9.37:g.123751958G>A							p.S1014S	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	24	3071	-			1014					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.3042C>T	CCDS6826.1																																																																																				0.433	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		54	194	0	0	0	1	0	54	194				
ANPEP	290	broad.mit.edu	37	15	90340856	90340856	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90340856T>A	ENST00000300060.6	-	15	2420	c.2107A>T	c.(2107-2109)Agc>Tgc	p.S703C	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	703	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TTGAAGTAGCTCAGGCTGCTC	0.572																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(2107-2109)Agc>Tgc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						145.0	131.0	136.0					15																	90340856		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90340856T>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2107A>T	15.37:g.90340856T>A	ENSP00000300060:p.Ser703Cys					ANPEP_ENST00000558177.1_5'UTR	p.S703C	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		15	2420	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		703			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.2107A>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825501	0.71143	.	.	ENSG00000166825	ENST00000300060	T	0.06528	3.29	5.46	2.99	0.34606	.	0.496209	0.25631	N	0.029345	T	0.17704	0.0425	M	0.85197	2.74	0.09310	N	1	D	0.52996	0.957	P	0.54856	0.762	T	0.03945	-1.0990	10	0.56958	D	0.05	.	7.11	0.25384	0.0:0.0811:0.2142:0.7047	.	703	P15144	AMPN_HUMAN	C	703	ENSP00000300060:S703C	ENSP00000300060:S703C	S	-	1	0	ANPEP	88141860	0.000000	0.05858	0.979000	0.43373	0.995000	0.86356	-0.112000	0.10791	1.012000	0.39366	0.533000	0.62120	AGC		0.572	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			142	647	0	0	0	1	0	142	647				
COMMD8	54951	broad.mit.edu	37	4	47458637	47458637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47458637G>T	ENST00000381571.4	-	3	399	c.332C>A	c.(331-333)gCt>gAt	p.A111D		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	111										large_intestine(2)|lung(5)|prostate(1)	8						AGAGGAAATAGCAACTATTTC	0.333																																						ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(331-333)gCt>gAt		COMM domain containing 8							168.0	178.0	175.0					4																	47458637		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47458637G>T	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.332C>A	4.37:g.47458637G>T	ENSP00000370984:p.Ala111Asp						p.A111D	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			3	399	-			111					Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.332C>A	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	G	2.687	-0.273965	0.05679	.	.	ENSG00000169019	ENST00000381571	T	0.09255	3.0	5.82	-2.66	0.06077	.	0.478103	0.26007	N	0.026901	T	0.04634	0.0126	N	0.16903	0.455	0.30636	N	0.756965	B	0.13594	0.008	B	0.16289	0.015	T	0.45264	-0.9273	10	0.09338	T	0.73	-15.396	9.0728	0.36502	0.0:0.2362:0.544:0.2199	.	111	Q9NX08	COMD8_HUMAN	D	111	ENSP00000370984:A111D	ENSP00000370984:A111D	A	-	2	0	COMMD8	47153394	0.828000	0.29307	0.959000	0.39883	0.793000	0.44817	0.370000	0.20433	-0.359000	0.08150	-0.410000	0.06199	GCT		0.333	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		18	725	1	0	1.96292e-10	1	2.08093e-10	18	725				
FBP2	8789	broad.mit.edu	37	9	97321313	97321313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97321313C>A	ENST00000375337.3	-	7	993	c.927G>T	c.(925-927)gaG>gaT	p.E309D	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	309					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGTGAATTGCCTCGGGCTTCA	0.572																																						ENST00000375337.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(925-927)gaG>gaT		fructose-1,6-bisphosphatase 2							106.0	92.0	97.0					9																	97321313		2203	4300	6503	SO:0001583	missense	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97321313C>A	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.927G>T	9.37:g.97321313C>A	ENSP00000364486:p.Glu309Asp					PCAT7_ENST00000452148.2_RNA	p.E309D	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN			7	993	-		Acute lymphoblastic leukemia(62;0.136)	309					Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	c.927G>T	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722736	0.30503	.	.	ENSG00000130957	ENST00000375337	T	0.72051	-0.62	5.54	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	L	0.46947	1.48	0.42638	D	0.993408	B	0.02656	0.0	B	0.06405	0.002	T	0.55198	-0.8178	10	0.38643	T	0.18	0.0724	10.6656	0.45728	0.0:0.651:0.0:0.349	.	309	O00757	F16P2_HUMAN	D	309	ENSP00000364486:E309D	ENSP00000364486:E309D	E	-	3	2	FBP2	96361134	0.005000	0.15991	0.147000	0.22382	0.744000	0.42396	0.135000	0.15952	0.457000	0.26962	0.655000	0.94253	GAG		0.572	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		69	333	1	0	3.05759e-45	1	3.74787e-45	69	333				
GPRASP1	9737	broad.mit.edu	37	X	101909574	101909574	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101909574C>T	ENST00000361600.5	+	5	1534	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.L245F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	245					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAACCAGGAGCTCTATATTGC	0.458																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(733-735)Ctc>Ttc		G protein-coupled receptor associated sorting protein 1							148.0	151.0	150.0					X																	101909574		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101909574C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.733C>T	X.37:g.101909574C>T	ENSP00000355146:p.Leu245Phe					GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.L245F	p.L245F	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	1546	+			245					O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.733C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813492	0.16537	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	1.95	-1.3	0.09259	.	.	.	.	.	T	0.02083	0.0065	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44421	-0.9329	9	0.10377	T	0.69	-0.3033	0.198	0.00141	0.21:0.2615:0.2073:0.3212	.	245	Q5JY77	GASP1_HUMAN	F	245	ENSP00000393691:L245F;ENSP00000409420:L245F;ENSP00000355146:L245F;ENSP00000445683:L245F	ENSP00000355146:L245F	L	+	1	0	GPRASP1	101796230	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	-0.849000	0.04322	-0.523000	0.06409	0.279000	0.19357	CTC		0.458	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		184	732	0	0	0	1	0	184	732				
GPR62	118442	broad.mit.edu	37	3	51990621	51990621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990621C>T	ENST00000322241.4	+	1	1292	c.953C>T	c.(952-954)cCg>cTg	p.P318L		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGCACTCCGCAAGCCTGG	0.697																																						ENST00000322241.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(952-954)cCg>cTg		G protein-coupled receptor 62							11.0	14.0	13.0					3																	51990621		2166	4252	6418	SO:0001583	missense	118442					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:51990621C>T	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.953C>T	3.37:g.51990621C>T	ENSP00000319250:p.Pro318Leu						p.P318L	NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1292	+			318					F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	c.953C>T	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455750	0.12283	.	.	ENSG00000180929	ENST00000322241	T	0.03065	4.06	4.75	0.657	0.17850	.	0.597438	0.12512	U	0.462400	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48525	-0.9028	10	0.16420	T	0.52	-10.3083	7.1624	0.25671	0.0:0.5642:0.0:0.4358	.	318	Q9BZJ7	GPR62_HUMAN	L	318	ENSP00000319250:P318L	ENSP00000319250:P318L	P	+	2	0	GPR62	51965661	0.000000	0.05858	0.010000	0.14722	0.685000	0.39939	0.147000	0.16202	0.058000	0.16222	0.561000	0.74099	CCG		0.697	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			52	145	0	0	0	1	0	52	145				
TIMM50	92609	broad.mit.edu	37	19	39971218	39971218	+	5'Flank	SNP	G	G	T	rs367865278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39971218G>T	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000314349.4_Missense_Mutation_p.D12Y|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAATAAGTGTGATCCCTTCCT	0.557																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(34-36)Gat>Tat		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							84.0	77.0	79.0					19																	39971218		2203	4300	6503	SO:0001631	upstream_gene_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971218G>T	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971218G>T	Exception_encountered						p.D12Y	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	167	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		0					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.34G>T		.	.	.	.	.	.	.	.	.	.	G	14.02	2.411895	0.42817	.	.	ENSG00000105197	ENST00000314349	.	.	.	3.1	-2.17	0.07059	.	.	.	.	.	T	0.16171	0.0389	N	0.08118	0	0.09310	N	0.999996	P	0.39782	0.688	P	0.44990	0.466	T	0.24440	-1.0160	7	.	.	.	2.2689	5.3158	0.15854	0.2557:0.2188:0.5255:0.0	.	12	Q3ZCQ8-2	.	Y	12	.	.	D	+	1	0	TIMM50	44663058	0.009000	0.17119	0.000000	0.03702	0.011000	0.07611	0.856000	0.27818	-0.267000	0.09325	0.462000	0.41574	GAT		0.557	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		73	380	1	0	2.41437e-24	1	2.75981e-24	73	380				
NPY1R	4886	broad.mit.edu	37	4	164246480	164246480	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246480T>A	ENST00000296533.2	-	3	1661	c.1130A>T	c.(1129-1131)aAc>aTc	p.N377I	NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	377					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCATCATTGTTGTTGATTTT	0.363																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(1129-1131)aAc>aTc		neuropeptide Y receptor Y1							137.0	138.0	138.0					4																	164246480		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246480T>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1130A>T	4.37:g.164246480T>A	ENSP00000354652:p.Asn377Ile					NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	p.N377I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1661	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	377					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.1130A>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	-	3.699	-0.061899	0.07317	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.70631	-0.5;-0.07	4.7	1.89	0.25635	.	0.953966	0.08718	N	0.903992	T	0.54695	0.1874	N	0.22421	0.69	0.26868	N	0.96781	B	0.22909	0.077	B	0.23018	0.043	T	0.40664	-0.9551	10	0.26408	T	0.33	.	8.1168	0.30948	0.0:0.3237:0.0:0.6763	.	377	P25929	NPY1R_HUMAN	I	377;134	ENSP00000354652:N377I;ENSP00000427284:N134I	ENSP00000354652:N377I	N	-	2	0	NPY1R	164465930	0.426000	0.25506	0.091000	0.20842	0.758000	0.43043	0.555000	0.23422	0.246000	0.21394	0.533000	0.62120	AAC		0.363	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			89	528	0	0	0	1	0	89	528				
PHACTR1	221692	broad.mit.edu	37	6	13206049	13206049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206049C>T	ENST00000379350.1	+	7	796	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	223					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGCCACAGATCCTGGCGCCCC	0.562																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(667-669)Cct>Tct		phosphatase and actin regulator 1							46.0	48.0	48.0					6																	13206049		1985	4168	6153	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206049C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.667C>T	6.37:g.13206049C>T	ENSP00000368655:p.Pro223Ser					PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S|PHACTR1_ENST00000379345.2_Intron	p.P223S			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	796	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	223					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.667C>T		.	.	.	.	.	.	.	.	.	.	C	2.219	-0.378753	0.05000	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.30182	1.54;1.57;1.64	5.05	5.05	0.67936	.	0.186728	0.49916	D	0.000121	T	0.06371	0.0164	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.25719	0.132;0.02;0.035	B;B;B	0.22152	0.038;0.006;0.023	T	0.18461	-1.0336	10	0.25751	T	0.34	-7.4043	11.0496	0.47878	0.0:0.9158:0.0:0.0842	.	292;223;223	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	S	223;223;292;78	ENSP00000368655:P223S;ENSP00000329880:P223S;ENSP00000397669:P78S	ENSP00000329880:P223S	P	+	1	0	PHACTR1	13314028	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.245000	0.43133	2.607000	0.88179	0.561000	0.74099	CCT		0.562	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		55	209	0	0	0	1	0	55	209				
SNRNP200	23020	broad.mit.edu	37	2	96953626	96953626	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96953626G>T	ENST00000323853.5	-	25	3417	c.3340C>A	c.(3340-3342)Ctc>Atc	p.L1114I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1114	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATCTTGCAGAGGTTCAGGGTC	0.537																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(3340-3342)Ctc>Atc		small nuclear ribonucleoprotein 200kDa (U5)							180.0	157.0	165.0					2																	96953626		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96953626G>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3340C>A	2.37:g.96953626G>T	ENSP00000317123:p.Leu1114Ile					SNRNP200_ENST00000349783.5_Intron	p.L1114I	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			25	3417	-			1114			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3340C>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131324	0.77549	.	.	ENSG00000144028	ENST00000323853	T	0.71103	-0.54	5.3	5.3	0.74995	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.68728	2.09	0.80722	D	1	B	0.31485	0.325	P	0.44696	0.458	T	0.77877	-0.2424	10	0.54805	T	0.06	-17.238	17.8872	0.88861	0.0:0.0:1.0:0.0	.	1114	O75643	U520_HUMAN	I	1114	ENSP00000317123:L1114I	ENSP00000317123:L1114I	L	-	1	0	SNRNP200	96317353	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.550000	0.98110	2.755000	0.94549	0.561000	0.74099	CTC		0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		11	527	1	0	0.000673444	1	0.000681208	11	527				
RFFL	117584	broad.mit.edu	37	17	33348547	33348547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348547C>T	ENST00000315249.7	-	3	656	c.434G>A	c.(433-435)aGg>aAg	p.R145K	RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000268850.7_Missense_Mutation_p.R145K|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_Missense_Mutation_p.R145K					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGCACGAGTCCTGTCCTCCTG	0.582																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(433-435)aGg>aAg		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							81.0	66.0	71.0					17																	33348547		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33348547C>T	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.434G>A	17.37:g.33348547C>T	ENSP00000326170:p.Arg145Lys					RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_Missense_Mutation_p.R145K|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K|RFFL_ENST00000268850.7_Missense_Mutation_p.R145K	p.R145K			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	656	-		Ovarian(249;0.17)	145						Missense_Mutation	SNP	ENST00000315249.7	37	c.434G>A	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	9.551	1.115960	0.20795	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.98;0.97;0.97	5.65	4.68	0.58851	.	0.406087	0.30201	N	0.010166	T	0.30634	0.0771	L	0.42245	1.32	0.30764	N	0.743764	P;P;B;B	0.43287	0.802;0.627;0.323;0.225	B;B;B;B	0.40677	0.337;0.295;0.079;0.114	T	0.18871	-1.0323	10	0.06099	T	0.92	-22.2961	10.0295	0.42092	0.0:0.8343:0.0:0.1657	.	145;145;145;145	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	K	145	ENSP00000326170:R145K;ENSP00000378096:R145K;ENSP00000367777:R145K;ENSP00000268850:R145K;ENSP00000408513:R145K;ENSP00000412322:R145K	ENSP00000268850:R145K	R	-	2	0	RFFL	30372660	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	3.146000	0.50631	1.630000	0.50440	0.655000	0.94253	AGG		0.582	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		44	147	0	0	0	1	0	44	147				
PYGM	5837	broad.mit.edu	37	11	64518890	64518890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518890C>A	ENST00000164139.3	-	16	2274	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.A538S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	626					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCGATGGCTGTGACGAGT	0.607																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1876-1878)Gcc>Tcc		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						102.0	103.0	102.0					11																	64518890		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64518890C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1876G>T	11.37:g.64518890C>A	ENSP00000164139:p.Ala626Ser					PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.A538S	p.A626S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			16	2274	-			626					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1876G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	5.899	0.349894	0.11182	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92911	-2.98;-3.13	5.16	3.12	0.35913	.	0.221691	0.32372	N	0.006195	T	0.78729	0.4329	N	0.04724	-0.175	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.20767	0.021;0.031	T	0.70985	-0.4723	10	0.02654	T	1	-21.054	10.5174	0.44898	0.4743:0.5257:0.0:0.0	.	538;626	A6NDY6;P11217	.;PYGM_HUMAN	S	538;626;607	ENSP00000366650:A538S;ENSP00000164139:A626S	ENSP00000164139:A626S	A	-	1	0	PYGM	64275466	0.001000	0.12720	0.981000	0.43875	0.947000	0.59692	-0.092000	0.11129	1.381000	0.46364	0.561000	0.74099	GCC		0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		67	289	1	0	2.50483e-33	1	2.96817e-33	67	289				
CWC27	10283	broad.mit.edu	37	5	64084809	64084809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64084809G>A	ENST00000381070.3	+	7	848	c.631G>A	c.(631-633)Gct>Act	p.A211T	CWC27_ENST00000508024.1_Missense_Mutation_p.A211T	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	211					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGGAGAGGAAGCTGAGGAAGA	0.308																																						ENST00000508024.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(631-633)Gct>Act		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							103.0	105.0	104.0					5																	64084809		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64084809G>A	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.631G>A	5.37:g.64084809G>A	ENSP00000370460:p.Ala211Thr					CWC27_ENST00000381070.3_Missense_Mutation_p.A211T	p.A211T			Q6UX04	CWC27_HUMAN			7	832	+			211					O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.631G>A	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	34	5.336438	0.95758	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.26660	1.72;1.76	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.973;0.998;0.996	T	0.52503	-0.8567	10	0.51188	T	0.08	.	18.3774	0.90440	0.0:0.0:1.0:0.0	.	211;211;211;211	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	T	211	ENSP00000370460:A211T;ENSP00000426802:A211T	ENSP00000370460:A211T	A	+	1	0	CWC27	64120565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	2.736000	0.93811	0.591000	0.81541	GCT		0.308	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		44	255	0	0	0	1	0	44	255				
GYS2	2998	broad.mit.edu	37	12	21690005	21690005	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21690005A>G	ENST00000261195.2	-	16	2249	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	665					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGTATCTCTCATCCTCCACTT	0.483																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1993-1995)gaT>gaC		glycogen synthase 2 (liver)							197.0	137.0	158.0					12																	21690005		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21690005A>G		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1995T>C	12.37:g.21690005A>G							p.D665D	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			16	2249	-			665					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.1995T>C	CCDS8690.1																																																																																				0.483	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		75	286	0	0	0	1	0	75	286				
AKAP6	9472	broad.mit.edu	37	14	32902714	32902714	+	Silent	SNP	C	C	T	rs575539231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32902714C>T	ENST00000280979.4	+	2	185	c.15C>T	c.(13-15)agC>agT	p.S5S	AKAP6_ENST00000557354.1_Silent_p.S5S|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Silent_p.S5S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	5					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAACCATGAGCGTGACACTTT	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19741	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(13-15)agC>agT		A kinase (PRKA) anchor protein 6							80.0	73.0	75.0					14																	32902714		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902714C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.15C>T	14.37:g.32902714C>T						AKAP6_ENST00000557272.1_Silent_p.S5S|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Silent_p.S5S	p.S5S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	185	+	Breast(36;0.0388)|Prostate(35;0.15)		5					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.15C>T	CCDS9644.1																																																																																				0.493	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		36	203	0	0	0	1	0	36	203				
FAM83C	128876	broad.mit.edu	37	20	33879849	33879849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879849C>T	ENST00000374408.3	-	1	355	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	87										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCAGGGCCCCCGCGCACATGG	0.677																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(259-261)Ggg>Agg		family with sequence similarity 83, member C							36.0	39.0	38.0					20																	33879849		2203	4299	6502	SO:0001583	missense	128876							g.chr20:33879849C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.259G>A	20.37:g.33879849C>T	ENSP00000363529:p.Gly87Arg						p.G87R	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	355	-			87					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.259G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315752	0.23908	.	.	ENSG00000125998	ENST00000374408	T	0.10477	2.87	5.38	2.36	0.29203	.	0.421653	0.25250	N	0.032033	T	0.08935	0.0221	L	0.43152	1.355	0.09310	N	0.999992	B	0.23185	0.081	B	0.20384	0.029	T	0.35871	-0.9771	10	0.17369	T	0.5	-21.0526	10.2058	0.43112	0.0:0.7813:0.0:0.2187	.	87	Q9BQN1	FA83C_HUMAN	R	87	ENSP00000363529:G87R	ENSP00000363529:G87R	G	-	1	0	FAM83C	33343263	0.001000	0.12720	0.001000	0.08648	0.350000	0.29205	1.119000	0.31258	0.341000	0.23771	0.462000	0.41574	GGG		0.677	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			13	323	0	0	0	1	0	13	323				
KCNG2	26251	broad.mit.edu	37	18	77659170	77659170	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659170A>T	ENST00000316249.3	+	2	755	c.755A>T	c.(754-756)aAc>aTc	p.N252I	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	252					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGCCACTCAACATCATTGAC	0.682																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(754-756)aAc>aTc		potassium voltage-gated channel, subfamily G, member 2							39.0	37.0	38.0					18																	77659170		2202	4300	6502	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659170A>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.755A>T	18.37:g.77659170A>T	ENSP00000315654:p.Asn252Ile					KCNG2_ENST00000590307.1_3'UTR	p.N252I	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	755	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	252						Missense_Mutation	SNP	ENST00000316249.3	37	c.755A>T	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017956	0.54576	.	.	ENSG00000178342	ENST00000316249	D	0.99245	-5.62	3.6	2.4	0.29515	Ion transport (1);	0.128701	0.50627	U	0.000102	D	0.99524	0.9830	H	0.97214	3.96	0.36120	D	0.845401	D	0.59767	0.986	D	0.68192	0.956	D	0.99433	1.0936	10	0.87932	D	0	.	9.6117	0.39668	0.8154:0.1846:0.0:0.0	.	252	Q9UJ96	KCNG2_HUMAN	I	252	ENSP00000315654:N252I	ENSP00000315654:N252I	N	+	2	0	KCNG2	75760158	1.000000	0.71417	0.475000	0.27278	0.541000	0.35023	6.203000	0.72137	0.446000	0.26666	0.338000	0.21704	AAC		0.682	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		31	122	0	0	0	1	0	31	122				
USO1	8615	broad.mit.edu	37	4	76715005	76715005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76715005G>A	ENST00000538159.1	+	13	1409	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	USO1_ENST00000514213.2_Missense_Mutation_p.G453D			O60763	USO1_HUMAN	USO1 vesicle transport factor	468	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAAGTATTGGCAACCCTCCA	0.423																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1408-1410)gGc>gAc		USO1 vesicle transport factor							98.0	95.0	96.0					4																	76715005		1862	4108	5970	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76715005G>A	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1409G>A	4.37:g.76715005G>A	ENSP00000440586:p.Gly470Asp					USO1_ENST00000514213.2_Missense_Mutation_p.G453D	p.G470D			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		13	1409	+			468			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.1409G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480795|4.480795	0.84747|0.84747	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|T	.|0.72394	.|-0.65	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76821|0.76821	0.4041|0.4041	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.49862	.|0.929;0.815	.|P;P	.|0.51487	.|0.614;0.671	T|T	0.78383|0.78383	-0.2225|-0.2225	5|10	.|0.51188	.|T	.|0.08	.|.	18.5297|18.5297	0.90987|0.90987	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|470;468	.|F5GYR8;O60763	.|.;USO1_HUMAN	T|D	137|303;470;453;396	.|ENSP00000444850:G453D	.|ENSP00000264904:G396D	A|G	+|+	1|2	0|0	USO1|USO1	76934029|76934029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.688000|0.688000	0.40055|0.40055	9.102000|9.102000	0.94226|0.94226	2.373000|2.373000	0.80994|0.80994	0.585000|0.585000	0.79938|0.79938	GCA|GGC		0.423	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		6	257	0	0	0	1	0	6	257				
OR1Q1	158131	broad.mit.edu	37	9	125377105	125377105	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125377105T>G	ENST00000297913.2	+	1	158	c.89T>G	c.(88-90)gTt>gGt	p.V30G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	30					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTCTTCCTTGTTTTCTCACTC	0.478																																						ENST00000297913.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(88-90)gTt>gGt		olfactory receptor, family 1, subfamily Q, member 1							226.0	205.0	212.0					9																	125377105		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377105T>G		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.89T>G	9.37:g.125377105T>G	ENSP00000297913:p.Val30Gly					RP11-64P14.7_ENST00000431442.1_RNA	p.V30G	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	158	+			30					Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.89T>G	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765450	0.31228	.	.	ENSG00000165202	ENST00000297913	T	0.03152	4.03	5.43	5.43	0.79202	.	0.158012	0.30011	N	0.010629	T	0.04679	0.0127	L	0.31420	0.93	0.48830	D	0.99971	B	0.23735	0.09	B	0.26416	0.069	T	0.41342	-0.9514	10	0.87932	D	0	-2.0674	14.609	0.68501	0.0:0.0:0.0:1.0	.	30	Q15612	OR1Q1_HUMAN	G	30	ENSP00000297913:V30G	ENSP00000297913:V30G	V	+	2	0	OR1Q1	124416926	0.419000	0.25449	0.054000	0.19295	0.354000	0.29330	4.135000	0.57997	2.280000	0.76307	0.533000	0.62120	GTT		0.478	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			133	672	0	0	0	1	0	133	672				
POLR3B	55703	broad.mit.edu	37	12	106857272	106857272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106857272G>T	ENST00000228347.4	+	23	2809	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	863					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.D863N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGAGCAACAGACTCATATAT	0.378																																						ENST00000228347.4																			1	Substitution - Missense(1)	p.D863N(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(2587-2589)Gac>Tac		polymerase (RNA) III (DNA directed) polypeptide B							68.0	67.0	67.0					12																	106857272		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106857272G>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2587G>T	12.37:g.106857272G>T	ENSP00000228347:p.Asp863Tyr					POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	p.D863Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			23	2809	+			863					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2587G>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902964	0.33628	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.72505	-0.66;-0.66	5.73	5.73	0.89815	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.040742	0.85682	D	0.000000	T	0.65015	0.2651	L	0.35414	1.06	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.58885	-0.7557	10	0.49607	T	0.09	-29.9656	19.8984	0.96975	0.0:0.0:1.0:0.0	.	863	Q9NW08	RPC2_HUMAN	Y	863;805	ENSP00000228347:D863Y;ENSP00000445721:D805Y	ENSP00000228347:D863Y	D	+	1	0	POLR3B	105381402	1.000000	0.71417	0.953000	0.39169	0.109000	0.19521	9.827000	0.99397	2.712000	0.92718	0.555000	0.69702	GAC		0.378	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		44	235	1	0	1.61863e-15	1	1.77026e-15	44	235				
FCGBP	8857	broad.mit.edu	37	19	40354319	40354319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40354319G>A	ENST00000221347.6	-	35	16157	c.16150C>T	c.(16150-16152)Cat>Tat	p.H5384Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5384	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGAGTCATGCCAATCATTG	0.547																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(16150-16152)Cat>Tat		Fc fragment of IgG binding protein							93.0	79.0	84.0					19																	40354319		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40354319G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16150C>T	19.37:g.40354319G>A	ENSP00000221347:p.His5384Tyr						p.H5384Y	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		35	16157	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5384			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.16150C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.472442	0.00167	.	.	ENSG00000090920	ENST00000221347	T	0.58797	0.31	4.73	-0.618	0.11576	von Willebrand factor, type D domain (3);	2.516040	0.02440	N	0.084491	T	0.33673	0.0871	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.24701	0.055	T	0.14476	-1.0471	10	0.16896	T	0.51	.	4.2223	0.10563	0.0836:0.1329:0.5119:0.2716	.	5384	Q9Y6R7	FCGBP_HUMAN	Y	5384	ENSP00000221347:H5384Y	ENSP00000221347:H5384Y	H	-	1	0	FCGBP	45046159	0.002000	0.14202	0.001000	0.08648	0.030000	0.12068	1.152000	0.31663	0.123000	0.18342	-0.444000	0.05651	CAT		0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		52	207	0	0	0	1	0	52	207				
RUVBL2	10856	broad.mit.edu	37	19	49510398	49510398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510398G>A	ENST00000595090.1	+	5	853	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RUVBL2_ENST00000413176.2_Missense_Mutation_p.R85H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	130					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCGGCGTTCGCATCAAGTAA	0.657																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(253-255)cGc>cAc		RuvB-like AAA ATPase 2							36.0	40.0	39.0					19																	49510398		1939	4129	6068	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49510398G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.389G>A	19.37:g.49510398G>A	ENSP00000473172:p.Arg130His					RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H|RUVBL2_ENST00000595090.1_Missense_Mutation_p.R130H	p.R85H			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	5	1402	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	130					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.254G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829808	0.71258	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.58652	0.32;0.55	5.33	5.33	0.75918	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	H	0.94542	3.55	0.80722	D	1	D;P;D	0.89917	1.0;0.458;0.999	D;B;D	0.65233	0.926;0.07;0.933	D	0.86680	0.1916	10	0.72032	D	0.01	-22.1592	16.8831	0.86068	0.0:0.0:1.0:0.0	.	130;130;96	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	H	130;85	ENSP00000221413:R130H;ENSP00000413890:R85H	ENSP00000221413:R130H	R	+	2	0	RUVBL2	54202210	1.000000	0.71417	0.985000	0.45067	0.551000	0.35334	8.874000	0.92363	2.667000	0.90743	0.561000	0.74099	CGC		0.657	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			19	485	0	0	0	1	0	19	485				
HERC6	55008	broad.mit.edu	37	4	89317258	89317258	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89317258G>T	ENST00000264346.7	+	6	910	c.851G>T	c.(850-852)aGa>aTa	p.R284I	HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000380265.5_Missense_Mutation_p.R284I	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	284					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTGTGGAAAGAATTGATGGC	0.428																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(850-852)aGa>aTa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							97.0	97.0	97.0					4																	89317258		1881	4119	6000	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89317258G>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.851G>T	4.37:g.89317258G>T	ENSP00000264346:p.Arg284Ile					HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000264346.7_Missense_Mutation_p.R284I	p.R284I	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	6	1034	+		Hepatocellular(203;0.114)	284					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.851G>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475392	0.43942	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;T;D	0.84146	-1.81;-1.32;-1.81	4.29	2.4	0.29515	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.443550	0.04262	N	0.340499	T	0.75398	0.3844	N	0.17723	0.515	0.09310	N	1	P;B	0.44090	0.826;0.0	B;B	0.40506	0.331;0.002	T	0.67213	-0.5727	10	0.34782	T	0.22	.	5.7191	0.17976	0.1896:0.1643:0.6461:0.0	.	284;284	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	I	284	ENSP00000369617:R284I;ENSP00000273960:R284I;ENSP00000264346:R284I	ENSP00000264346:R284I	R	+	2	0	HERC6	89536281	0.010000	0.17322	0.471000	0.27229	0.853000	0.48598	1.106000	0.31098	1.162000	0.42619	-0.339000	0.08088	AGA		0.428	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			47	228	1	0	5.73435e-26	1	6.59582e-26	47	228				
CACNA1A	773	broad.mit.edu	37	19	13325114	13325114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13325114G>T	ENST00000360228.5	-	40	5872	c.5873C>A	c.(5872-5874)gCc>gAc	p.A1958D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1959					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GATCATCATGGCTGCGTAGAT	0.642																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5872-5874)gCc>gAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						37.0	41.0	40.0					19																	13325114		2169	4272	6441	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13325114G>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5873C>A	19.37:g.13325114G>T	ENSP00000353362:p.Ala1958Asp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	p.A1958D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		40	5872	-			1959					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5873C>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562411	0.65538	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.72394	-0.65	4.72	4.72	0.59763	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.000000	0.64402	D	0.000001	D	0.83211	0.5205	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	D	0.85729	0.1330	10	0.87932	D	0	.	16.4549	0.84009	0.0:0.0:1.0:0.0	.	1959;1964;1958;1959	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	D	1958;1964;1959;1959	ENSP00000353362:A1958D	ENSP00000317661:A1959D	A	-	2	0	CACNA1A	13186114	1.000000	0.71417	0.989000	0.46669	0.868000	0.49771	9.353000	0.97080	2.184000	0.69523	0.491000	0.48974	GCC		0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		17	116	1	0	1.00905e-13	1	1.09121e-13	17	116				
PRKCB	5579	broad.mit.edu	37	16	24192159	24192159	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24192159G>T	ENST00000321728.7	+	13	1618	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N	PRKCB_ENST00000303531.7_Missense_Mutation_p.K481N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GACACATCAAGATTGCCGATT	0.453																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1441-1443)aaG>aaT		protein kinase C, beta	Vitamin E(DB00163)						205.0	178.0	187.0					16																	24192159		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24192159G>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1443G>T	16.37:g.24192159G>T	ENSP00000318315:p.Lys481Asn					PRKCB_ENST00000321728.7_Missense_Mutation_p.K481N	p.K481N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			13	1595	+			481			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1443G>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489032	0.84962	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.38887	1.11;1.11	5.9	3.93	0.45458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76987	-0.2755	10	0.87932	D	0	.	10.5616	0.45148	0.1552:0.0:0.8448:0.0	.	481;481	P05771-2;P05771	.;KPCB_HUMAN	N	481	ENSP00000318315:K481N;ENSP00000305355:K481N	ENSP00000305355:K481N	K	+	3	2	PRKCB	24099660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.372000	0.44257	1.467000	0.48044	0.650000	0.86243	AAG		0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		118	510	1	0	5.53734e-46	1	6.79704e-46	118	510				
NID2	22795	broad.mit.edu	37	14	52534638	52534638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52534638C>A	ENST00000216286.5	-	2	471	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	NID2_ENST00000541773.1_Missense_Mutation_p.A105S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	158	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCCAGGTGGCCAGGAAGGCG	0.667																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(472-474)Gcc>Tcc		nidogen 2 (osteonidogen)							55.0	69.0	64.0					14																	52534638		2176	4264	6440	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52534638C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.472G>T	14.37:g.52534638C>A	ENSP00000216286:p.Ala158Ser					NID2_ENST00000541773.1_Missense_Mutation_p.A105S	p.A158S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			2	471	-	Breast(41;0.0639)|all_epithelial(31;0.123)		158			NIDO.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.472G>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450520	0.84101	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	T;T	0.20463	2.07;2.07	5.58	5.58	0.84498	Nidogen, extracellular domain (2);	0.202722	0.52532	D	0.000080	T	0.47893	0.1470	M	0.88979	2.995	0.31430	N	0.673213	P;D;P	0.53745	0.925;0.962;0.877	P;P;B	0.52672	0.453;0.706;0.265	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.579	0.95458	0.0:1.0:0.0:0.0	.	105;160;158	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	S	158;105;160	ENSP00000216286:A158S;ENSP00000443730:A105S	ENSP00000216286:A158S	A	-	1	0	NID2	51604388	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	3.463000	0.53050	2.626000	0.88956	0.563000	0.77884	GCC		0.667	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			199	778	1	0	1.12399e-60	1	1.41402e-60	199	778				
ZBTB45	84878	broad.mit.edu	37	19	59028774	59028774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028774G>A	ENST00000594051.1	-	2	747	c.267C>T	c.(265-267)agC>agT	p.S89S	ZBTB45_ENST00000600990.1_Silent_p.S89S|ZBTB45_ENST00000354590.3_Silent_p.S89S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGAGCGAACCGCTGTACAGGA	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(265-267)agC>agT		zinc finger and BTB domain containing 45							56.0	51.0	53.0					19																	59028774		2202	4300	6502	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028774G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.267C>T	19.37:g.59028774G>A			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000600990.1_Silent_p.S89S|ZBTB45_ENST00000354590.3_Silent_p.S89S	p.S89S			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	747	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	89			BTB.			Silent	SNP	ENST00000594051.1	37	c.267C>T	CCDS12984.1																																																																																				0.602	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		103	342	0	0	0	1	0	103	342				
ST14	6768	broad.mit.edu	37	11	130067743	130067743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130067743G>A	ENST00000278742.5	+	12	1780	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	454	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGCATGCCCGGGGCAGTTCA	0.706																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1360-1362)ccG>ccA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						21.0	17.0	18.0					11																	130067743		2191	4290	6481	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130067743G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1362G>A	11.37:g.130067743G>A							p.P454P	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	12	1780	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	454			LDL-receptor class A 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1362G>A	CCDS8487.1																																																																																				0.706	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			10	41	0	0	0	1	0	10	41				
ADCY10	55811	broad.mit.edu	37	1	167874257	167874257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874257C>T	ENST00000367851.4	-	2	306	c.122G>A	c.(121-123)gGa>gAa	p.G41E	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	41					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATCAGGACTCCGTCAAAATA	0.453																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(121-123)gGa>gAa		adenylate cyclase 10 (soluble)							113.0	108.0	109.0					1																	167874257		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167874257C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.122G>A	1.37:g.167874257C>T	ENSP00000356825:p.Gly41Glu					ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E	p.G41E	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN			2	306	-			41					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.122G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471987	0.84533	.	.	ENSG00000143199	ENST00000367851	T	0.39406	1.08	5.57	5.57	0.84162	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.64402	D	0.000010	T	0.57021	0.2025	M	0.73962	2.25	0.34549	D	0.711135	D	0.89917	1.0	D	0.97110	1.0	T	0.58797	-0.7573	9	0.46703	T	0.11	-18.9717	15.0548	0.71904	0.0:1.0:0.0:0.0	.	41	Q96PN6	ADCYA_HUMAN	E	41	ENSP00000356825:G41E	ENSP00000356825:G41E	G	-	2	0	ADCY10	166140881	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	4.168000	0.58216	2.606000	0.88127	0.650000	0.86243	GGA		0.453	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		93	319	0	0	0	1	0	93	319				
GABRA4	2557	broad.mit.edu	37	4	46995361	46995361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46995361C>T	ENST00000264318.3	-	1	1063	c.81G>A	c.(79-81)gcG>gcA	p.A27A	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	27					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCACCAAACCGCCAGGCACA	0.607																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(79-81)gcG>gcA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						104.0	101.0	102.0					4																	46995361		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46995361C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.81G>A	4.37:g.46995361C>T						GABRA4_ENST00000509316.1_5'UTR	p.A27A	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			1	1063	-			27					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.81G>A	CCDS3473.1																																																																																				0.607	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			121	680	0	0	0	1	0	121	680				
DLG5	9231	broad.mit.edu	37	10	79613246	79613246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:79613246C>T	ENST00000372391.2	-	5	735	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	244					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGCATGTCCACGTCATCCTTC	0.627																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(730-732)Gtg>Atg		discs, large homolog 5 (Drosophila)							46.0	35.0	39.0					10																	79613246		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79613246C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.730G>A	10.37:g.79613246C>T	ENSP00000361467:p.Val244Met					DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	p.V244M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		5	735	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		244					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.730G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654864	0.47467	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04862	3.57;3.54	4.6	2.7	0.31948	.	0.459506	0.16221	N	0.224044	T	0.01800	0.0057	N	0.01576	-0.805	0.23546	N	0.997444	B	0.31705	0.336	B	0.12837	0.008	T	0.42155	-0.9468	10	0.44086	T	0.13	.	3.1793	0.06579	0.1891:0.495:0.0:0.3159	.	244	Q8TDM6	DLG5_HUMAN	M	244	ENSP00000361467:V244M;ENSP00000361464:V244M	ENSP00000361464:V244M	V	-	1	0	DLG5	79283252	0.855000	0.29742	0.691000	0.30163	0.980000	0.70556	1.338000	0.33873	0.460000	0.27045	0.655000	0.94253	GTG		0.627	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			20	86	0	0	0	1	0	20	86				
NDUFAF3	25915	broad.mit.edu	37	3	49060385	49060385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060385C>T	ENST00000326925.6	+	4	1548	c.414C>T	c.(412-414)ggC>ggT	p.G138G	DALRD3_ENST00000496568.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000395458.2_Silent_p.G81G|NDUFAF3_ENST00000451378.2_Silent_p.G81G|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000326912.4_Silent_p.G81G|DALRD3_ENST00000440857.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	138					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCAGCGGGGCATTGCTGTGG	0.637																																						ENST00000326925.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						c.(412-414)ggC>ggT		NADH dehydrogenase (ubiquinone) complex I, assembly factor 3							77.0	84.0	81.0					3																	49060385		2203	4300	6503	SO:0001819	synonymous_variant	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49060385C>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.414C>T	3.37:g.49060385C>T						NDUFAF3_ENST00000451378.2_Silent_p.G81G|NDUFAF3_ENST00000395458.2_Silent_p.G81G|NDUFAF3_ENST00000326912.4_Silent_p.G81G	p.G138G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN			4	1548	+			138						Silent	SNP	ENST00000326925.6	37	c.414C>T	CCDS2784.1																																																																																				0.637	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		47	528	0	0	0	1	0	47	528				
ERBB2IP	55914	broad.mit.edu	37	5	65324108	65324108	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65324108G>T	ENST00000284037.5	+	14	1532	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K381N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	381					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACAGATTAAAGAATTTACCCT	0.303																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(1141-1143)aaG>aaT		erbb2 interacting protein							64.0	65.0	65.0					5																	65324108		2202	4299	6501	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65324108G>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1143G>T	5.37:g.65324108G>T	ENSP00000284037:p.Lys381Asn					ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N	p.K381N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	14	1532	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	381					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.1143G>T	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119212	0.56505	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;2.32;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.65	3.78	0.43462	.	0.134464	0.64402	D	0.000002	T	0.60117	0.2244	N	0.20357	0.565	0.44890	D	0.997901	P;P;P;P;D;D;P;D	0.89917	0.624;0.915;0.627;0.931;1.0;0.991;0.593;1.0	B;P;B;P;D;P;B;D	0.91635	0.42;0.763;0.348;0.848;0.999;0.864;0.295;0.997	T	0.62025	-0.6941	10	0.72032	D	0.01	.	10.39	0.44162	0.221:0.0:0.779:0.0	.	381;381;381;381;381;381;381;381	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	N	381	ENSP00000284037:K381N;ENSP00000370330:K381N;ENSP00000397833:K381N;ENSP00000370326:K381N;ENSP00000370323:K381N;ENSP00000370322:K381N;ENSP00000370325:K381N;ENSP00000422766:K381N;ENSP00000426632:K381N;ENSP00000422015:K381N	ENSP00000284037:K381N	K	+	3	2	ERBB2IP	65359864	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.542000	0.60677	0.662000	0.31006	-0.244000	0.11960	AAG		0.303	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		17	141	1	0	5.3912e-06	1	5.54037e-06	17	141				
PLIN3	10226	broad.mit.edu	37	19	4844705	4844705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4844705G>A	ENST00000221957.4	-	7	1111	c.935C>T	c.(934-936)cCc>cTc	p.P312L	PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L|PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	312					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTCCTTCTCGGGGCCCTGGAG	0.597																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(934-936)cCc>cTc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						33.0	28.0	30.0					19																	4844705		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4844705G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.935C>T	19.37:g.4844705G>A	ENSP00000221957:p.Pro312Leu					PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L|PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L	p.P312L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			7	1111	-			312					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.935C>T	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392630	0.25118	.	.	ENSG00000105355	ENST00000221957	T	0.05199	3.48	4.07	1.79	0.24919	.	1.707180	0.03546	U	0.224768	T	0.09335	0.0230	L	0.43152	1.355	0.09310	N	1	B;B;B	0.23249	0.028;0.082;0.035	B;B;B	0.24394	0.031;0.023;0.053	T	0.45234	-0.9275	10	0.36615	T	0.2	-25.0203	12.0524	0.53513	0.0:0.3346:0.6654:0.0	.	312;129;312	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	L	312	ENSP00000221957:P312L	ENSP00000221957:P312L	P	-	2	0	PLIN3	4795705	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.226000	0.09139	0.334000	0.23590	0.561000	0.74099	CCC		0.597	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		11	65	0	0	0	1	0	11	65				
AP3B1	8546	broad.mit.edu	37	5	77423893	77423893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77423893C>T	ENST00000255194.6	-	17	2104	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	AP3B1_ENST00000519295.1_Silent_p.A594A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	643					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGGGTCGGGCGCCACCTCTG	0.398									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1927-1929)gcG>gcA		adaptor-related protein complex 3, beta 1 subunit							77.0	80.0	79.0					5																	77423893		2203	4300	6503	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77423893C>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1929G>A	5.37:g.77423893C>T						AP3B1_ENST00000519295.1_Silent_p.A594A	p.A643A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	17	2104	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	643					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.1929G>A	CCDS4041.1																																																																																				0.398	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			77	386	0	0	0	1	0	77	386				
MCEE	84693	broad.mit.edu	37	2	71351596	71351596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71351596C>A	ENST00000244217.5	-	2	135	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	40					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CACACAGAACCTGTCACTTGA	0.468																																						ENST00000244217.5																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(118-120)Ggt>Tgt		methylmalonyl CoA epimerase							114.0	124.0	121.0					2																	71351596		2203	4300	6503	SO:0001583	missense	84693				fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	g.chr2:71351596C>A	AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.118G>T	2.37:g.71351596C>A	ENSP00000244217:p.Gly40Cys						p.G40C	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN			2	135	-			40					Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	c.118G>T	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854643	0.51376	.	.	ENSG00000124370	ENST00000244217	T	0.65178	-0.14	5.33	2.44	0.29823	.	0.727471	0.13510	N	0.382552	T	0.65312	0.2679	M	0.65975	2.015	0.09310	N	1	D	0.63046	0.992	P	0.52856	0.711	T	0.56050	-0.8043	10	0.66056	D	0.02	-25.9894	4.5436	0.12071	0.0:0.5656:0.1631:0.2713	.	40	Q96PE7	MCEE_HUMAN	C	40	ENSP00000244217:G40C	ENSP00000244217:G40C	G	-	1	0	MCEE	71205104	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.288000	0.08377	0.284000	0.22305	0.650000	0.86243	GGT		0.468	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		240	659	1	0	2.64057e-105	1	3.39797e-105	240	659				
RNF13	11342	broad.mit.edu	37	3	149589892	149589892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149589892G>A	ENST00000344229.3	+	5	974	c.272G>A	c.(271-273)gGc>gAc	p.G91D	RNF13_ENST00000392894.3_Missense_Mutation_p.G91D|RNF13_ENST00000361785.6_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	91	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATTCATCTGGCACTTTCATC	0.308																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(271-273)gGc>gAc		ring finger protein 13							82.0	80.0	81.0					3																	149589892		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149589892G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.272G>A	3.37:g.149589892G>A	ENSP00000341361:p.Gly91Asp					RNF13_ENST00000361785.6_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.G91D	p.G91D	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		5	974	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	91			PA.		A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.272G>A	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699002	0.30142	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000490631	T;T;T;T;T;T	0.14391	3.33;3.33;2.51;3.33;3.33;3.33	5.28	5.28	0.74379	Protease-associated domain, PA (1);	0.257441	0.43919	D	0.000519	T	0.13329	0.0323	L	0.56769	1.78	0.44890	D	0.997905	B	0.09022	0.002	B	0.15870	0.014	T	0.07501	-1.0769	10	0.13108	T	0.6	-13.7995	9.7831	0.40660	0.0906:0.0:0.9094:0.0	.	91	O43567	RNF13_HUMAN	D	91	ENSP00000376628:G91D;ENSP00000341361:G91D;ENSP00000420067:G91D;ENSP00000419069:G91D;ENSP00000417655:G91D;ENSP00000417294:G91D	ENSP00000341361:G91D	G	+	2	0	RNF13	151072582	0.033000	0.19621	0.267000	0.24556	0.845000	0.48019	1.079000	0.30766	2.756000	0.94617	0.655000	0.94253	GGC		0.308	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		32	166	0	0	0	1	0	32	166				
C1QTNF1	114897	broad.mit.edu	37	17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577																																						ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(679-681)Gac>Aac		C1q and tumor necrosis factor related protein 1							133.0	104.0	114.0					17																	77044003		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77044003G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.679G>A	17.37:g.77044003G>A	ENSP00000340864:p.Asp227Asn					C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N	p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		5	1234	+			227			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.679G>A	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331789	0.81801	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.21734	1.99;1.99;1.99	5.21	5.21	0.72293	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.47488	0.1448	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	0.977;0.977;1.0	P;P;D	0.74348	0.701;0.701;0.983	T	0.42632	-0.9440	10	0.49607	T	0.09	.	18.7566	0.91835	0.0:0.0:1.0:0.0	.	237;237;227	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	227;145;237;227;237	ENSP00000340864:D227N;ENSP00000311265:D145N;ENSP00000343230:D237N	ENSP00000311265:D145N	D	+	1	0	C1QTNF1	74555598	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.787000	0.99055	2.430000	0.82344	0.561000	0.74099	GAC		0.577	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		62	288	0	0	0	1	0	62	288				
PPP1R15B	84919	broad.mit.edu	37	1	204378920	204378920	+	Missense_Mutation	SNP	T	T	G	rs537467435	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204378920T>G	ENST00000367188.4	-	1	1999	c.1620A>C	c.(1618-1620)gaA>gaC	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	540					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.E540D(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCCAGTCATCTTCCTCCCCAG	0.458																																						ENST00000367188.4																			1	Substitution - Missense(1)	p.E540D(1)	kidney(1)	breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(1618-1620)gaA>gaC		protein phosphatase 1, regulatory subunit 15B							58.0	58.0	58.0					1																	204378920		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204378920T>G	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1620A>C	1.37:g.204378920T>G	ENSP00000356156:p.Glu540Asp					RP11-739N20.2_ENST00000443515.1_RNA	p.E540D	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1999	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		540					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1620A>C	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615334	0.46631	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19394	2.15	5.38	-7.88	0.01178	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.746215	0.13044	N	0.418281	T	0.08758	0.0217	L	0.28014	0.82	0.36487	D	0.868218	B	0.20550	0.046	B	0.22601	0.04	T	0.17077	-1.0381	10	0.28530	T	0.3	-6.382	2.3305	0.04234	0.1917:0.3548:0.2793:0.1742	.	540	Q5SWA1	PR15B_HUMAN	D	540;450	ENSP00000356156:E540D	ENSP00000356156:E540D	E	-	3	2	PPP1R15B	202645543	0.001000	0.12720	0.941000	0.38009	0.786000	0.44442	-1.432000	0.02430	-1.053000	0.03218	-0.250000	0.11733	GAA		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		75	187	0	0	0	1	0	75	187				
PCDHB7	56129	broad.mit.edu	37	5	140553895	140553895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553895C>T	ENST00000231137.3	+	1	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGTCCCAGGACCCGC	0.667																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1477-1479)tcC>tcT									94.0	94.0	94.0					5																	140553895		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553895C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1479C>T	5.37:g.140553895C>T							p.S493S	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1653	+			493			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1479C>T	CCDS4249.1																																																																																				0.667	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		141	711	0	0	0	1	0	141	711				
TESK1	7016	broad.mit.edu	37	9	35609358	35609358	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35609358C>A	ENST00000336395.5	+	10	1750	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	500					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCACCTGTTCCTCGGCCTCCC	0.642																																						ENST00000336395.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1498-1500)tcC>tcA		testis-specific kinase 1							35.0	38.0	37.0					9																	35609358		2194	4287	6481	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609358C>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1500C>A	9.37:g.35609358C>A						TESK1_ENST00000498522.1_3'UTR	p.S500S	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1750	+			500					Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.1500C>A	CCDS6580.1																																																																																				0.642	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		18	393	1	0	2.4624e-09	1	2.59004e-09	18	393				
KDM5B	10765	broad.mit.edu	37	1	202698939	202698939	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202698939T>C	ENST00000367265.3	-	26	5557	c.4393A>G	c.(4393-4395)Act>Gct	p.T1465A	KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1465					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGAATGAGTTTCAGCAGAA	0.483																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4393-4395)Act>Gct		lysine (K)-specific demethylase 5B							219.0	202.0	208.0					1																	202698939		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202698939T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4393A>G	1.37:g.202698939T>C	ENSP00000356234:p.Thr1465Ala					KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	p.T1465A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			26	5557	-			1465					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4393A>G	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408742	0.25378	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.84146	-1.81;-1.62	5.44	4.29	0.51040	Zinc finger, FYVE/PHD-type (1);	0.242623	0.42964	D	0.000635	T	0.77418	0.4127	L	0.36672	1.1	0.29722	N	0.838543	B;B	0.19073	0.033;0.009	B;B	0.17979	0.02;0.005	T	0.66874	-0.5813	10	0.25106	T	0.35	-4.6225	11.5021	0.50444	0.0:0.0709:0.0:0.9291	.	1501;1465	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	A	1465;1307;1501	ENSP00000356234:T1465A;ENSP00000356233:T1501A	ENSP00000356233:T1501A	T	-	1	0	KDM5B	200965562	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.409000	0.52657	0.875000	0.35847	0.528000	0.53228	ACT		0.483	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		225	667	0	0	0	1	0	225	667				
MAPT	4137	broad.mit.edu	37	17	44060851	44060851	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44060851C>A	ENST00000571987.1	+	5	681	c.681C>A	c.(679-681)tcC>tcA	p.S227S	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000415613.2_Silent_p.S227S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Silent_p.S227S|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Silent_p.S227S|MAPT_ENST00000574436.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	227					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TCGATGAGTCCTCCCCCCAAG	0.687																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(679-681)tcC>tcA		microtubule-associated protein tau							36.0	23.0	27.0					17																	44060851		2199	4289	6488	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060851C>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.681C>A	17.37:g.44060851C>A						MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Silent_p.S227S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Silent_p.S227S|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.S227S	p.S227S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	1003	+		Melanoma(429;0.216)	227					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.681C>A	CCDS11501.1																																																																																				0.687	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		22	127	1	0	1.22574e-08	1	1.28258e-08	22	127				
EPHB6	2051	broad.mit.edu	37	7	142564791	142564791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142564791G>A	ENST00000392957.2	+	11	2502	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	572	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCCTACGGGGGCAAAGTC	0.637																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1714-1716)gGg>gAg		EPH receptor B6							36.0	39.0	38.0					7																	142564791		2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564791G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1715G>A	7.37:g.142564791G>A	ENSP00000376684:p.Gly572Glu					EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	p.G572E	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			11	2502	+	Melanoma(164;0.059)		572			Fibronectin type-III 2.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1715G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878146	0.91664	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.53640	0.61;0.61;0.61	5.12	5.12	0.69794	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000155	T	0.66577	0.2803	M	0.62723	1.935	0.46458	D	0.999051	D;D	0.76494	0.999;0.998	D;P	0.70487	0.969;0.9	T	0.70132	-0.4956	10	0.87932	D	0	.	17.5466	0.87864	0.0:0.0:1.0:0.0	.	572;295	O15197;O15197-2	EPHB6_HUMAN;.	E	572;572;295	ENSP00000376684:G572E;ENSP00000410789:G572E;ENSP00000409061:G295E	ENSP00000376684:G572E	G	+	2	0	EPHB6	142274913	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.395000	0.97266	2.368000	0.80403	0.555000	0.69702	GGG		0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			71	303	0	0	0	1	0	71	303				
EEF2	1938	broad.mit.edu	37	19	3977529	3977529	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3977529C>T	ENST00000309311.6	-	13	2235	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	716					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCTCCGCGGTGGATGGC	0.672																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2146-2148)cGc>cAc		eukaryotic translation elongation factor 2							63.0	60.0	61.0					19																	3977529		2197	4299	6496	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3977529C>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2147G>A	19.37:g.3977529C>T	ENSP00000307940:p.Arg716His						p.R716H	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2235	-		Hepatocellular(1079;0.137)	716					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.2147G>A	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252365	0.80135	.	.	ENSG00000167658	ENST00000309311	T	0.37752	1.18	5.51	5.51	0.81932	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.055071	0.64402	D	0.000002	T	0.77738	0.4175	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87499	0.2432	10	0.87932	D	0	-22.9049	17.9738	0.89121	0.0:1.0:0.0:0.0	.	716	P13639	EF2_HUMAN	H	716	ENSP00000307940:R716H	ENSP00000307940:R716H	R	-	2	0	EEF2	3928529	1.000000	0.71417	0.914000	0.36105	0.082000	0.17680	7.670000	0.83925	2.585000	0.87301	0.556000	0.70494	CGC		0.672	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		20	64	0	0	0	1	0	20	64				
SLC5A3	6526	broad.mit.edu	37	21	35469406	35469406	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35469406G>T	ENST00000381151.3	+	2	2421	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A637S|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	637					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAAGCAGCTCTCATGGG	0.478																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1909-1911)Gct>Tct		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							82.0	76.0	78.0					21																	35469406		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35469406G>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1909G>T	21.37:g.35469406G>T	ENSP00000370543:p.Ala637Ser					MRPS6_ENST00000399312.2_Intron	p.A637S	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	2421	+			637					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1909G>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163213	0.38217	.	.	ENSG00000198743	ENST00000381151	D	0.85861	-2.04	6.06	5.18	0.71444	.	0.480265	0.18467	N	0.140345	T	0.76133	0.3945	N	0.22421	0.69	0.30363	N	0.783593	B	0.12013	0.005	B	0.14023	0.01	T	0.66991	-0.5783	10	0.18710	T	0.47	.	14.7718	0.69684	0.0693:0.0:0.9307:0.0	.	637	P53794	SC5A3_HUMAN	S	637	ENSP00000370543:A637S	ENSP00000370543:A637S	A	+	1	0	SLC5A3	34391276	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	5.336000	0.65935	1.582000	0.49881	0.643000	0.83706	GCT		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			37	388	1	0	1.69901e-12	1	1.82497e-12	37	388				
MTO1	25821	broad.mit.edu	37	6	74201963	74201963	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74201963C>T	ENST00000370300.4	+	11	1809	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000415954.2_Silent_p.L588L|RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000498286.1_Silent_p.L548L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	573					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GCAGAGCTCTCGATGTTCTGA	0.373																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(1642-1644)ctC>ctT		mitochondrial tRNA translation optimization 1							71.0	70.0	70.0					6																	74201963		2203	4300	6503	SO:0001819	synonymous_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74201963C>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1719C>T	6.37:g.74201963C>T						RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000370300.4_Silent_p.L573L|MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000415954.2_Silent_p.L588L	p.L548L			Q9Y2Z2	MTO1_HUMAN			10	1921	+			573					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	c.1644C>T	CCDS4979.1																																																																																				0.373	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		44	216	0	0	0	1	0	44	216				
EFTUD1	79631	broad.mit.edu	37	15	82532772	82532772	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82532772T>G	ENST00000268206.7	-	6	671	c.503A>C	c.(502-504)aAt>aCt	p.N168T	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	168	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTAAAATATTCTTGAGGTG	0.373																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(502-504)aAt>aCt		elongation factor Tu GTP binding domain containing 1							36.0	32.0	33.0					15																	82532772		1790	4067	5857	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82532772T>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.503A>C	15.37:g.82532772T>G	ENSP00000268206:p.Asn168Thr					EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	p.N168T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			6	671	-			168					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.503A>C	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006488	0.54361	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.75938	-0.98;-0.98	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (1);	0.102941	0.40302	U	0.001139	T	0.64238	0.2580	N	0.26162	0.8	0.44899	D	0.997911	B;B	0.32693	0.38;0.142	B;B	0.36030	0.205;0.216	T	0.68435	-0.5409	10	0.66056	D	0.02	.	12.5358	0.56140	0.0:0.0:0.0:1.0	.	117;168	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	T	168;117	ENSP00000268206:N168T;ENSP00000352418:N117T	ENSP00000268206:N168T	N	-	2	0	EFTUD1	80319827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	1.804000	0.52760	0.438000	0.28831	AAT		0.373	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		10	75	0	0	0	1	0	10	75				
MBP	4155	broad.mit.edu	37	18	74700865	74700865	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74700865T>C	ENST00000397869.3	-	3	332	c.286A>G	c.(286-288)Acg>Gcg	p.T96A	MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000527041.1_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000354542.4_Intron|MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000579129.1_Missense_Mutation_p.T229A|MBP_ENST00000355994.2_Missense_Mutation_p.T229A|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000528160.1_Intron|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000359645.3_Missense_Mutation_p.T122A			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GTGCGAGGCGTCACCTGGAAA	0.537																																					NSCLC(17;72 1131 19392)	ENST00000355994.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(685-687)Acg>Gcg		myelin basic protein							108.0	117.0	114.0					18																	74700865		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74700865T>C		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.286A>G	18.37:g.74700865T>C	ENSP00000380967:p.Thr96Ala					MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000579129.1_Missense_Mutation_p.T229A|MBP_ENST00000354542.4_Intron|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.T96A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000528160.1_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000359645.3_Missense_Mutation_p.T122A	p.T229A	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	6	948	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	229					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.685A>G		.	.	.	.	.	.	.	.	.	.	T	18.35	3.604648	0.66445	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.34	3.1	0.35709	.	0.350057	0.26213	N	0.025670	T	0.53642	0.1809	L	0.40543	1.245	0.32076	N	0.593799	P;D;P;B;B	0.63046	0.804;0.992;0.544;0.199;0.199	P;D;B;B;B	0.76071	0.625;0.987;0.133;0.193;0.193	T	0.60005	-0.7347	9	0.72032	D	0.01	.	6.6358	0.22881	0.2966:0.0:0.0:0.7034	.	96;229;96;122;122	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	A	122;229;106;96;96;122;96;74;96;40	.	ENSP00000348273:T229A	T	-	1	0	MBP	72829853	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.776000	0.47709	1.832000	0.53329	0.482000	0.46254	ACG		0.537	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		128	666	0	0	0	1	0	128	666				
GDAP2	54834	broad.mit.edu	37	1	118441693	118441693	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441693G>T	ENST00000369443.5	-	7	1031	c.782C>A	c.(781-783)cCt>cAt	p.P261H	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	261					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGGAGCACCAGGTTTCTCACT	0.433																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(781-783)cCt>cAt		ganglioside induced differentiation associated protein 2							156.0	156.0	156.0					1																	118441693		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118441693G>T	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.782C>A	1.37:g.118441693G>T	ENSP00000358451:p.Pro261His					GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H	p.P261H	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	7	1031	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	261					Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.782C>A	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566958	0.65651	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.40476	1.3;1.03	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69709	-0.5072	10	0.87932	D	0	-14.751	19.6366	0.95736	0.0:0.0:1.0:0.0	.	261;261	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	H	261	ENSP00000358451:P261H;ENSP00000358450:P261H	ENSP00000358450:P261H	P	-	2	0	GDAP2	118243216	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	9.046000	0.93817	2.643000	0.89663	0.585000	0.79938	CCT		0.433	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		62	593	1	0	3.07184e-27	1	3.5546e-27	62	593				
NCOA3	8202	broad.mit.edu	37	20	46252654	46252654	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46252654G>T	ENST00000371998.3	+	4	274		c.e4-1		NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000372004.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3						androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTTCCCTTAGTCTTACCTGC	0.393																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.e4-1		nuclear receptor coactivator 3							60.0	63.0	62.0					20																	46252654		2203	4300	6503	SO:0001630	splice_region_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46252654G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.84-1G>T	20.37:g.46252654G>T						NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000371998.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site		NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			4	299	+								A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	37		CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320843	0.23994	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCOA3	45686061	1.000000	0.71417	0.992000	0.48379	0.138000	0.21146	7.235000	0.78143	2.937000	0.99478	0.650000	0.86243	.		0.393	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	Intron	30	175	1	0	7.68411e-24	1	8.75532e-24	30	175				
HAUS5	23354	broad.mit.edu	37	19	36109792	36109792	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109792G>T	ENST00000203166.5	+	13	1045	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	340					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCTGCAGGCAGGTGCTGATAC	0.617																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1018-1020)caG>caT		HAUS augmin-like complex, subunit 5							48.0	47.0	47.0					19																	36109792		2068	4215	6283	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36109792G>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1020G>T	19.37:g.36109792G>T	ENSP00000439056:p.Gln340His					HAUS5_ENST00000379045.2_3'UTR	p.Q340H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			13	1045	+			340					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1020G>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166373	0.21621	.	.	ENSG00000249115	ENST00000203166	T	0.30981	1.51	5.6	0.544	0.17185	.	0.532571	0.19741	N	0.107130	T	0.34774	0.0909	L	0.55481	1.735	0.37242	D	0.906142	P	0.44195	0.828	P	0.50617	0.646	T	0.27191	-1.0081	10	0.41790	T	0.15	-18.8135	8.1581	0.31183	0.3865:0.0:0.6135:0.0	.	340	O94927	HAUS5_HUMAN	H	340	ENSP00000439056:Q340H	ENSP00000439056:Q340H	Q	+	3	2	HAUS5	40801632	0.906000	0.30813	0.475000	0.27278	0.012000	0.07955	0.237000	0.17985	0.325000	0.23359	-0.217000	0.12591	CAG		0.617	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			33	301	1	0	2.68265e-12	1	2.87809e-12	33	301				
ANKHD1	54882	broad.mit.edu	37	5	139876462	139876462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876462C>T	ENST00000360839.2	+	15	2757	c.2603C>T	c.(2602-2604)tCt>tTt	p.S868F	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S868F|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	868						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACAGTGTCTCTACACCAA	0.448																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2602-2604)tCt>tTt		ankyrin repeat and KH domain containing 1							101.0	100.0	101.0					5																	139876462		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139876462C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2603C>T	5.37:g.139876462C>T	ENSP00000354085:p.Ser868Phe					ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S868F	p.S868F	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2727	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2603C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724921	0.15439	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.65916	-0.13;-0.18;-0.09;-0.18	5.46	2.68	0.31781	Ankyrin repeat-containing domain (1);	0.692985	0.14036	N	0.345792	T	0.40398	0.1115	N	0.08118	0	0.21878	N	0.999491	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34079	-0.9843	10	0.56958	D	0.05	.	9.5072	0.39053	0.0:0.6112:0.0:0.3888	.	868;868;868	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	F	868;901;868;868;402;887;868	ENSP00000354085:S868F;ENSP00000297183:S868F;ENSP00000394489:S887F;ENSP00000432016:S868F	ENSP00000432016:S868F	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856646	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.699000	0.37804	0.788000	0.33755	0.585000	0.79938	TCT		0.448	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		13	449	0	0	0	1	0	13	449				
NEB	4703	broad.mit.edu	37	2	152506868	152506868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152506868C>T	ENST00000172853.10	-	54	7400	c.7253G>A	c.(7252-7254)tGg>tAg	p.W2418*	NEB_ENST00000603639.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W2418*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W2418*			P20929	NEBU_HUMAN	nebulin	2418					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTCTCAGCCACTCAAGGTC	0.443																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(7252-7254)tGg>tAg		nebulin							79.0	75.0	77.0					2																	152506868		1867	4105	5972	SO:0001587	stop_gained	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152506868C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7253G>A	2.37:g.152506868C>T	ENSP00000172853:p.Trp2418*					NEB_ENST00000409198.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W2418*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W2418*	p.W2418*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	54	7455	-			2418					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.7253G>A		.	.	.	.	.	.	.	.	.	.	C	47	13.448563	0.99742	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.37	5.37	0.77165	.	0.204094	0.43919	D	0.000503	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0099	0.64490	0.1512:0.8488:0.0:0.0	.	.	.	.	X	2418	.	ENSP00000172853:W2418X	W	-	2	0	NEB	152215114	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	0.964000	0.29306	2.527000	0.85204	0.650000	0.86243	TGG		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		53	301	0	0	0	1	0	53	301				
ITGB8	3696	broad.mit.edu	37	7	20418775	20418775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418775G>A	ENST00000222573.4	+	4	1174	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	164	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAATAATATAGAAAAATTAAA	0.343																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(490-492)Gaa>Aaa		integrin, beta 8							75.0	82.0	80.0					7																	20418775		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418775G>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.490G>A	7.37:g.20418775G>A	ENSP00000222573:p.Glu164Lys					ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K	p.E164K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			4	1174	+			164			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.490G>A	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924418	0.73213	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97731	-4.51;-4.51	5.82	5.82	0.92795	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.071807	0.64402	D	0.000019	D	0.97851	0.9294	L	0.45698	1.435	0.38694	D	0.952837	D;D	0.63046	0.992;0.984	P;P	0.60886	0.88;0.761	D	0.98122	1.0426	10	0.37606	T	0.19	-27.1312	20.0956	0.97842	0.0:0.0:1.0:0.0	.	164;164	P26012;Q9BUG9	ITB8_HUMAN;.	K	29;164	ENSP00000441561:E29K;ENSP00000222573:E164K	ENSP00000222573:E164K	E	+	1	0	ITGB8	20385300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.158000	0.58150	2.746000	0.94184	0.650000	0.86243	GAA		0.343	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		49	250	0	0	0	1	0	49	250				
CTHRC1	115908	broad.mit.edu	37	8	104387965	104387965	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104387965G>A	ENST00000330295.5	+	2	292		c.e2-1		CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000415886.2_Splice_Site|CTHRC1_ENST00000520337.1_Splice_Site	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1						cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TCTCATTATAGTATAATGGAA	0.478																																						ENST00000330295.5																			0				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.e2-1		collagen triple helix repeat containing 1							86.0	99.0	95.0					8																	104387965		2203	4300	6503	SO:0001630	splice_region_variant	115908					collagen		g.chr8:104387965G>A	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.151-1G>A	8.37:g.104387965G>A						CTHRC1_ENST00000520337.1_Splice_Site|CTHRC1_ENST00000415886.2_Splice_Site		NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	292	+								G3V141|Q6UW91|Q8IX63	Splice_Site	SNP	ENST00000330295.5	37		CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843455	0.71488	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTHRC1	104457141	1.000000	0.71417	0.993000	0.49108	0.795000	0.44927	8.908000	0.92640	2.500000	0.84329	0.591000	0.81541	.		0.478	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	Intron	108	548	0	0	0	1	0	108	548				
SNHG14	104472715	broad.mit.edu	37	15	25449299	25449299	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25449299C>A	ENST00000424208.1	+	0	2208				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNORD115-17_ENST00000364612.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GACATATGTCCTCCTCCTGTC	0.607																																						ENST00000424208.1																			0																																																			0							g.chr15:25449299C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25449299C>A						SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2208	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.607	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			11	63	1	0	0.000673444	1	0.000681208	11	63				
ESRRA	2101	broad.mit.edu	37	11	64082498	64082498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082498C>T	ENST00000405666.1	+	6	1002	c.768C>T	c.(766-768)gaC>gaT	p.D256D	ESRRA_ENST00000406310.1_Silent_p.D255D|ESRRA_ENST00000000442.6_Silent_p.D256D	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	256	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTGTCTGACCAGATGTCAG	0.667																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(766-768)gaC>gaT		estrogen-related receptor alpha							13.0	14.0	14.0					11																	64082498		2086	4214	6300	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082498C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.768C>T	11.37:g.64082498C>T						ESRRA_ENST00000000442.6_Silent_p.D256D|ESRRA_ENST00000406310.1_Silent_p.D255D	p.D256D			P11474	ERR1_HUMAN			6	1002	+			256			Ligand binding domain.		Q14514	Silent	SNP	ENST00000405666.1	37	c.768C>T	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408958	0.11812	.	.	ENSG00000173153	ENST00000545035	.	.	.	4.14	1.23	0.21249	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47381	-0.9122	4	.	.	.	.	7.5808	0.27963	0.0:0.6945:0.0:0.3055	.	.	.	.	I	37	.	.	T	+	2	0	ESRRA	63839074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.594000	0.36697	0.512000	0.28257	0.462000	0.41574	ACC		0.667	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		6	75	0	0	0	1	0	6	75				
ARID1B	57492	broad.mit.edu	37	6	157522258	157522258	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157522258C>T	ENST00000350026.5	+	17	4492	c.4491C>T	c.(4489-4491)agC>agT	p.S1497S	ARID1B_ENST00000275248.4_Silent_p.S1492S|ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000346085.5_Silent_p.S1510S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1497	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATCATGAGAGCCAGTGGCCTT	0.607																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4528-4530)agC>agT		AT rich interactive domain 1B (SWI1-like)							152.0	145.0	148.0					6																	157522258		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522258C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4491C>T	6.37:g.157522258C>T						ARID1B_ENST00000350026.5_Silent_p.S1497S|ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000275248.4_Silent_p.S1492S	p.S1510S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4531	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1497			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4530C>T	CCDS5251.2																																																																																				0.607	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		106	480	0	0	0	1	0	106	480				
PTCHD1	139411	broad.mit.edu	37	X	23398084	23398084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23398084C>A	ENST00000379361.4	+	2	1588	c.728C>A	c.(727-729)tCc>tAc	p.S243Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	243					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTCAGAAATCCAACAGCAAA	0.507																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(727-729)tCc>tAc		patched domain containing 1							235.0	216.0	222.0					X																	23398084		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398084C>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.728C>A	X.37:g.23398084C>A	ENSP00000368666:p.Ser243Tyr						p.S243Y	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1588	+			243					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.728C>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774582	0.49786	.	.	ENSG00000165186	ENST00000379361	D	0.86694	-2.16	4.86	3.0	0.34707	.	0.348412	0.31370	N	0.007762	D	0.85457	0.5701	N	0.19112	0.55	0.32494	N	0.539809	P;P	0.51537	0.727;0.946	B;P	0.59115	0.408;0.852	D	0.86509	0.1808	10	0.46703	T	0.11	.	12.1616	0.54107	0.475:0.525:0.0:0.0	.	138;243	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	Y	243	ENSP00000368666:S243Y	ENSP00000368666:S243Y	S	+	2	0	PTCHD1	23308005	0.842000	0.29525	0.999000	0.59377	0.997000	0.91878	1.156000	0.31712	0.502000	0.28037	0.600000	0.82982	TCC		0.507	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		257	963	1	0	8.30384e-64	1	1.04868e-63	257	963				
POMT2	29954	broad.mit.edu	37	14	77787020	77787020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77787020G>A	ENST00000261534.4	-	1	207	c.5C>T	c.(4-6)cCg>cTg	p.P2L	GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000393734.1_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000557053.1_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	2						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CGTGGCCGGCGGCATCTTCCC	0.746																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(4-6)cCg>cTg		protein-O-mannosyltransferase 2							9.0	10.0	10.0					14																	77787020		1496	3380	4876	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77787020G>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.5C>T	14.37:g.77787020G>A	ENSP00000261534:p.Pro2Leu						p.P2L	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	1	207	-			2					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.5C>T	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139893	0.37728	.	.	ENSG00000009830	ENST00000261534	T	0.76709	-1.04	4.99	1.9	0.25705	.	0.388197	0.26275	N	0.025302	T	0.52805	0.1757	N	0.08118	0	0.35751	D	0.819457	B	0.19073	0.033	B	0.09377	0.004	T	0.54576	-0.8273	10	0.72032	D	0.01	-11.0857	4.1682	0.10317	0.0892:0.1589:0.5879:0.164	.	2	Q9UKY4	POMT2_HUMAN	L	2	ENSP00000261534:P2L	ENSP00000261534:P2L	P	-	2	0	POMT2	76856773	1.000000	0.71417	0.972000	0.41901	0.262000	0.26303	3.318000	0.51975	1.051000	0.40369	0.655000	0.94253	CCG		0.746	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		29	108	0	0	0	1	0	29	108				
UBASH3B	84959	broad.mit.edu	37	11	122677157	122677157	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122677157C>A	ENST00000284273.5	+	12	2010	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	545	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTTCAGAATCCTATGATACTT	0.299																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1633-1635)tcC>tcA		ubiquitin associated and SH3 domain containing B							81.0	82.0	82.0					11																	122677157		2200	4294	6494	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122677157C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1635C>A	11.37:g.122677157C>A							p.S545S	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	12	2010	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	545			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.1635C>A	CCDS31694.1																																																																																				0.299	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		12	150	1	0	6.40141e-05	1	6.5221e-05	12	150				
ZNF496	84838	broad.mit.edu	37	1	247492622	247492622	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247492622G>A	ENST00000294753.4	-	3	723	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ZNF496_ENST00000366498.2_Silent_p.L87L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	87	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			AACTGCTCCAGCACCAGCAGC	0.716																																						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.(259-261)Ctg>Ttg		zinc finger protein 496							27.0	32.0	31.0					1																	247492622		2202	4299	6501	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492622G>A	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.259C>T	1.37:g.247492622G>A						ZNF496_ENST00000366498.2_Silent_p.L87L	p.L87L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	723	-	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)		87			SCAN box.		Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.259C>T	CCDS1631.1																																																																																				0.716	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		11	424	0	0	0	1	0	11	424				
SYNE1	23345	broad.mit.edu	37	6	152476174	152476174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152476174G>A	ENST00000367255.5	-	133	24583	c.23982C>T	c.(23980-23982)atC>atT	p.I7994I	SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000423061.1_Silent_p.I7923I|SYNE1_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000265368.4_Silent_p.I7994I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7994					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGTCTCTTCGATTCTGGGGC	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23980-23982)atC>atT		spectrin repeat containing, nuclear envelope 1							78.0	83.0	81.0					6																	152476174		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152476174G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23982C>T	6.37:g.152476174G>A		HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000265368.4_Silent_p.I7994I|SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000423061.1_Silent_p.I7923I	p.I7994I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	133	24583	-		Ovarian(120;0.0955)	7994					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.23982C>T	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	501	0	0	0	1	0	24	501				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834768	74834768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74834768G>T	ENST00000370899.3	+	16	1724	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	FPGT-TNNI3K_ENST00000370895.1_Nonsense_Mutation_p.E563*|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.E462*|FPGT-TNNI3K_ENST00000557284.2_Nonsense_Mutation_p.E576*|TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.E563*|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TCAGCTCTCAGAAATTGAGTT	0.328																																						ENST00000370895.1																			0											c.(1687-1689)Gaa>Taa									42.0	43.0	43.0					1																	74834768		2202	4299	6501	SO:0001587	stop_gained	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74834768G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1687G>T	1.37:g.74834768G>T	ENSP00000359936:p.Glu563*					FPGT-TNNI3K_ENST00000370899.3_Nonsense_Mutation_p.E563*|FPGT-TNNI3K_ENST00000557284.1_Nonsense_Mutation_p.E563*|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.E462*|TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.E563*	p.E563*			Q59H18	TNI3K_HUMAN			16	1722	+			462			Protein kinase.			Nonsense_Mutation	SNP	ENST00000370899.3	37	c.1687G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.032380|8.032380	0.98619|0.98619	.|.	.|.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783|ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637|ENST00000526236	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.114197|.	0.64402|.	D|.	0.000011|.	.|T	.|0.70762	.|0.3261	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69135	.|-0.5225	.|3	0.54805|.	T|.	0.06|.	.|.	19.1989|19.1989	0.93701|0.93701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	563;563;563;563;462|8	.|.	ENSP00000322251:E462X|.	E|Q	+|+	1|3	0|2	RP11-653A5.2;AC093158.1|AC093158.1	74607356|74607356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.307000|9.307000	0.96226|0.96226	2.538000|2.538000	0.85594|0.85594	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.328	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			50	142	1	0	1.00221e-16	1	1.10252e-16	50	142				
HSP90AA1	3320	broad.mit.edu	37	14	102548126	102548126	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102548126T>C	ENST00000216281.8	-	11	2327	c.2122A>G	c.(2122-2124)Acc>Gcc	p.T708A	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T830A	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	708	Required for homodimerization.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GCAGCACTGGTATCATCAGCA	0.413																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2488-2490)Acc>Gcc		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						185.0	162.0	170.0					14																	102548126		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548126T>C	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.2122A>G	14.37:g.102548126T>C	ENSP00000216281:p.Thr708Ala					HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T708A	p.T830A	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			12	2769	-			708					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.2488A>G	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	8.088	0.773911	0.16051	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.08896	3.04;3.04	4.34	4.34	0.51931	.	0.837310	0.10573	U	0.658935	T	0.02012	0.0063	N	0.00560	-1.38	0.25982	N	0.982354	B;B	0.18166	0.009;0.026	B;B	0.20955	0.032;0.017	T	0.45381	-0.9265	10	0.13853	T	0.58	-10.756	1.5499	0.02572	0.1726:0.1003:0.1794:0.5477	.	830;708	P07900-2;P07900	.;HS90A_HUMAN	A	708;830	ENSP00000216281:T708A;ENSP00000335153:T830A	ENSP00000216281:T708A	T	-	1	0	HSP90AA1	101617879	0.708000	0.27876	0.974000	0.42286	0.969000	0.65631	0.679000	0.25291	1.739000	0.51704	0.377000	0.23210	ACC		0.413	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		119	470	0	0	0	1	0	119	470				
RPS6KA4	8986	broad.mit.edu	37	11	64138899	64138899	+	Missense_Mutation	SNP	G	G	A	rs200411554		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64138899G>A	ENST00000334205.4	+	17	2331	c.2266G>A	c.(2266-2268)Gtc>Atc	p.V756I	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.V749I|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	756	Required for nuclear targeting and association with MAPK14.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCGAGCCCCCGTCGCCTCCAA	0.731																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(2245-2247)Gtc>Atc		ribosomal protein S6 kinase, 90kDa, polypeptide 4							7.0	9.0	8.0					11																	64138899		1787	3517	5304	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64138899G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.2266G>A	11.37:g.64138899G>A	ENSP00000333896:p.Val756Ile					RPS6KA4_ENST00000334205.4_Missense_Mutation_p.V756I|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I	p.V749I	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			17	2333	+			756					A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.2245G>A	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	0.411	-0.913058	0.02415	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261	T;T;T	0.67698	-0.28;-0.24;-0.25	1.68	0.63	0.17693	.	0.408805	0.18438	U	0.141220	T	0.46190	0.1380	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.22604	0.0;0.071;0.043;0.072	B;B;B;B	0.08055	0.0;0.002;0.001;0.003	T	0.29150	-1.0021	10	0.87932	D	0	.	7.2917	0.26370	0.319:0.0:0.681:0.0	.	508;749;756;750	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	I	749;756;508	ENSP00000435580:V749I;ENSP00000333896:V756I;ENSP00000294261:V508I	ENSP00000294261:V508I	V	+	1	0	RPS6KA4	63895475	0.006000	0.16342	0.002000	0.10522	0.016000	0.09150	0.268000	0.18571	-0.629000	0.05575	-1.786000	0.00637	GTC		0.731	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		40	138	0	0	0	1	0	40	138				
GRIN2B	2904	broad.mit.edu	37	12	13716563	13716563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13716563G>A	ENST00000609686.1	-	13	3818	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1203					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCACTCCACGTTGGTCAGGT	0.637																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3607-3609)aaC>aaT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						94.0	101.0	99.0					12																	13716563		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716563G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3609C>T	12.37:g.13716563G>A							p.N1203N	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3818	-			1203					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3609C>T	CCDS8662.1																																																																																				0.637	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			144	465	0	0	0	1	0	144	465				
BABAM1	29086	broad.mit.edu	37	19	17379674	17379674	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17379674C>T	ENST00000359435.4	+	2	252	c.59C>T	c.(58-60)tCg>tTg	p.S20L	BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000595632.1_Missense_Mutation_p.S20L|BABAM1_ENST00000601043.1_Missense_Mutation_p.S20L|BABAM1_ENST00000598188.1_Missense_Mutation_p.S20L|BABAM1_ENST00000447614.2_Missense_Mutation_p.S20L|CTD-2278I10.6_ENST00000596542.1_5'UTR	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	20					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						GAGGAGCACTCGGCAGAGCCT	0.667																																						ENST00000359435.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(58-60)tCg>tTg		BRISC and BRCA1 A complex member 1							10.0	14.0	13.0					19																	17379674		2025	4164	6189	SO:0001583	missense	29086				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	g.chr19:17379674C>T	AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"""Mediator of Rap80 Interactions and Targeting 40 kD"", ""new component of the BRCA1 A complex"""	612766	"""chromosome 19 open reading frame 62"""	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.59C>T	19.37:g.17379674C>T	ENSP00000352408:p.Ser20Leu					BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000447614.2_Missense_Mutation_p.S20L|CTD-2278I10.6_ENST00000596542.1_5'UTR|BABAM1_ENST00000601043.1_Missense_Mutation_p.S20L|BABAM1_ENST00000598188.1_Missense_Mutation_p.S20L|BABAM1_ENST00000595632.1_Missense_Mutation_p.S20L	p.S20L	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN			2	252	+			20					A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	ENST00000359435.4	37	c.59C>T	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517622	0.13005	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000448635	.	.	.	4.86	2.55	0.30701	.	1.154760	0.06234	N	0.689250	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.19418	-1.0306	9	0.23891	T	0.37	-6.4354	6.5372	0.22361	0.1847:0.711:0.0:0.1044	.	20;20	Q9NWV8-3;Q9NWV8	.;BABA1_HUMAN	L	20	.	ENSP00000352408:S20L	S	+	2	0	BABAM1	17240674	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	0.073000	0.14640	1.204000	0.43247	0.655000	0.94253	TCG		0.667	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	NM_014173		25	67	0	0	0	1	0	25	67				
TECTA	7007	broad.mit.edu	37	11	121000350	121000350	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121000350A>G	ENST00000392793.1	+	10	2642	c.2371A>G	c.(2371-2373)Aat>Gat	p.N791D	TECTA_ENST00000264037.2_Missense_Mutation_p.N791D			O75443	TECTA_HUMAN	tectorin alpha	791	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTCAGTTGAATGGTCAGGA	0.448																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2371-2373)Aat>Gat		tectorin alpha							149.0	148.0	148.0					11																	121000350		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000350A>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2371A>G	11.37:g.121000350A>G	ENSP00000376543:p.Asn791Asp					TECTA_ENST00000264037.2_Missense_Mutation_p.N791D	p.N791D			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	2642	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	791			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2371A>G	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230020	0.79688	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.64803	-0.12;-0.12	4.99	4.99	0.66335	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	L	0.60455	1.87	0.46376	D	0.999019	D	0.76494	0.999	D	0.83275	0.996	T	0.69687	-0.5078	10	0.17832	T	0.49	.	14.6911	0.69087	1.0:0.0:0.0:0.0	.	791	O75443	TECTA_HUMAN	D	791	ENSP00000376543:N791D;ENSP00000264037:N791D	ENSP00000264037:N791D	N	+	1	0	TECTA	120505560	1.000000	0.71417	0.772000	0.31596	0.810000	0.45777	8.522000	0.90573	1.886000	0.54624	0.460000	0.39030	AAT		0.448	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		81	340	0	0	0	1	0	81	340				
DIDO1	11083	broad.mit.edu	37	20	61525063	61525063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525063G>A	ENST00000266070.4	-	12	3381	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F	DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1019					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGTCAGGAGATGAGGATGG	0.488																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3055-3057)tCt>tTt		death inducer-obliterator 1							111.0	93.0	99.0					20																	61525063		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525063G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3056C>T	20.37:g.61525063G>A	ENSP00000266070:p.Ser1019Phe					DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F	p.S1019F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3381	-	Breast(26;5.68e-08)		1019					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3056C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277045	0.40294	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13089	2.93;2.93;2.62;2.62	5.95	4.82	0.62117	.	0.220212	0.22789	U	0.055622	T	0.29652	0.0740	M	0.66939	2.045	0.46954	D	0.999263	D;D	0.64830	0.992;0.994	P;P	0.57502	0.822;0.809	T	0.00655	-1.1624	10	0.72032	D	0.01	-45.4857	13.2992	0.60315	0.0851:0.0:0.9149:0.0	.	1019;1019	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	F	1019	ENSP00000266070:S1019F;ENSP00000378752:S1019F;ENSP00000378749:S1019F;ENSP00000378744:S1019F	ENSP00000266070:S1019F	S	-	2	0	DIDO1	60995508	1.000000	0.71417	0.111000	0.21465	0.014000	0.08584	5.485000	0.66850	2.824000	0.97209	0.655000	0.94253	TCT		0.488	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		108	408	0	0	0	1	0	108	408				
ATP4A	495	broad.mit.edu	37	19	36050771	36050771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050771G>T	ENST00000262623.3	-	7	1020	c.992C>A	c.(991-993)gCc>gAc	p.A331D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	331					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GAAGACCATGGCCCGCAGGAA	0.587																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(991-993)gCc>gAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						82.0	67.0	72.0					19																	36050771		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050771G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.992C>A	19.37:g.36050771G>T	ENSP00000262623:p.Ala331Asp						p.A331D	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	1020	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		331					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.992C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475950	0.84640	.	.	ENSG00000105675	ENST00000262623	D	0.91180	-2.8	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000006	D	0.94631	0.8269	M	0.80847	2.515	0.80722	D	1	D	0.61080	0.989	D	0.68483	0.958	D	0.95198	0.8314	10	0.87932	D	0	.	13.5911	0.61961	0.0:0.0:1.0:0.0	.	331	P20648	ATP4A_HUMAN	D	331	ENSP00000262623:A331D	ENSP00000262623:A331D	A	-	2	0	ATP4A	40742611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.559000	0.98135	2.146000	0.66826	0.561000	0.74099	GCC		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		53	221	1	0	1.46156e-29	1	1.70844e-29	53	221				
ATHL1	80162	broad.mit.edu	37	11	290822	290822	+	Silent	SNP	C	C	T	rs564622719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:290822C>T	ENST00000409548.2	+	4	730	c.615C>T	c.(613-615)ggC>ggT	p.G205G	ATHL1_ENST00000409479.1_Silent_p.G205G|ATHL1_ENST00000409655.1_Silent_p.G28G|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	205					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCAGTGGGCGGCAGCCAGG	0.652																																						ENST00000409548.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17						c.(613-615)ggC>ggT		ATH1, acid trehalase-like 1 (yeast)							47.0	46.0	47.0					11																	290822		2203	4300	6503	SO:0001819	synonymous_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:290822C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.615C>T	11.37:g.290822C>T						ATHL1_ENST00000409479.1_Silent_p.G205G|ATHL1_ENST00000409655.1_Silent_p.G28G	p.G205G	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	730	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	205					Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	37	c.615C>T	CCDS31322.2																																																																																				0.652	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		73	257	0	0	0	1	0	73	257				
DRG2	1819	broad.mit.edu	37	17	18002358	18002358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18002358G>A	ENST00000225729.3	+	4	481	c.343G>A	c.(343-345)Gac>Aac	p.D115N	DRG2_ENST00000395726.4_Missense_Mutation_p.D115N|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	115	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CCAGCTCCTGGACCTTCCTGG	0.547																																						ENST00000225729.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14						c.(343-345)Gac>Aac		developmentally regulated GTP binding protein 2							111.0	102.0	105.0					17																	18002358		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18002358G>A	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.343G>A	17.37:g.18002358G>A	ENSP00000225729:p.Asp115Asn					DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.D115N	p.D115N	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN			4	481	+	all_neural(463;0.228)		115			G.		B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.343G>A	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647216	0.67358	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.73047	-0.71;-0.71	5.05	5.05	0.67936	GTP1/OBG, conserved site (1);Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	H	0.99961	5.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96686	0.9507	10	0.87932	D	0	-18.123	18.4054	0.90533	0.0:0.0:1.0:0.0	.	115;115;115	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	N	115	ENSP00000379076:D115N;ENSP00000225729:D115N	ENSP00000225729:D115N	D	+	1	0	DRG2	17943083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.713000	0.98740	2.344000	0.79699	0.563000	0.77884	GAC		0.547	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		65	374	0	0	0	1	0	65	374				
MYLK	4638	broad.mit.edu	37	3	123367851	123367851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123367851G>A	ENST00000475616.1	-	23	4381	c.4382C>T	c.(4381-4383)tCt>tTt	p.S1461F	MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000354792.5_Missense_Mutation_p.S261F|MYLK_ENST00000360772.3_Missense_Mutation_p.S1461F			Q15746	MYLK_HUMAN	myosin light chain kinase	1461					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTAGAAGTCAGATACTTTTTG	0.512																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4381-4383)tCt>tTt		myosin light chain kinase							236.0	212.0	220.0					3																	123367851		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123367851G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4382C>T	3.37:g.123367851G>A	ENSP00000418335:p.Ser1461Phe					MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000475616.1_Missense_Mutation_p.S1461F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000354792.5_Missense_Mutation_p.S261F	p.S1461F			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	27	4760	-		Lung NSC(201;0.0496)	1461					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4382C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506591	0.64410	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.82	4.82	0.62117	Protein kinase-like domain (1);	.	.	.	.	T	0.32406	0.0828	N	0.14661	0.345	0.36762	D	0.883317	P;D;P;P;P	0.53885	0.828;0.963;0.895;0.936;0.736	P;P;P;P;B	0.46940	0.532;0.528;0.532;0.528;0.332	T	0.17561	-1.0365	9	0.12766	T	0.61	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1461;1392;1461;1392;1461	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	F	1461;1461;1461;1392;261;1461	ENSP00000354004:S1461F;ENSP00000353452:S1461F;ENSP00000352088:S1461F;ENSP00000320622:S1392F;ENSP00000346846:S261F;ENSP00000418335:S1461F	ENSP00000320622:S1392F	S	-	2	0	MYLK	124850541	0.994000	0.37717	0.999000	0.59377	0.908000	0.53690	4.640000	0.61368	2.370000	0.80446	0.650000	0.86243	TCT		0.512	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		111	484	0	0	0	1	0	111	484				
ZBTB7B	51043	broad.mit.edu	37	1	154988148	154988148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154988148C>T	ENST00000368426.3	+	3	1149	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	338					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAGCTGGTGCGCAAACGCCG	0.607																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1012-1014)Cgc>Tgc		zinc finger and BTB domain containing 7B							45.0	46.0	46.0					1																	154988148		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988148C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1012C>T	1.37:g.154988148C>T	ENSP00000357411:p.Arg338Cys					ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C	p.R338C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1149	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		338					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1012C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.521512	0.64747	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.11063	2.84;2.84;2.81;2.84	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.29908	0.895	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	T	0.01626	-1.1309	10	0.87932	D	0	.	9.1092	0.36716	0.2183:0.7817:0.0:0.0	.	338;338;372	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	338;338;372;338	ENSP00000438647:R338C;ENSP00000357411:R338C;ENSP00000406286:R372C;ENSP00000292176:R338C	ENSP00000292176:R338C	R	+	1	0	ZBTB7B	153254772	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.168000	0.31859	2.109000	0.64355	0.462000	0.41574	CGC		0.607	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		90	230	0	0	0	1	0	90	230				
FAT2	2196	broad.mit.edu	37	5	150948345	150948345	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150948345T>C	ENST00000261800.5	-	1	160	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	50	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCACATAGGTCTTGGGAGAA	0.502																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(148-150)Acc>Gcc		FAT atypical cadherin 2							118.0	120.0	119.0					5																	150948345		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150948345T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.148A>G	5.37:g.150948345T>C	ENSP00000261800:p.Thr50Ala						p.T50A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	160	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	50			Cadherin 1.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.148A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547644	0.86022	.	.	ENSG00000086570	ENST00000261800	T	0.72051	-0.62	5.36	5.36	0.76844	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.82195	0.4984	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	P	0.58266	0.836	D	0.85066	0.0937	10	0.66056	D	0.02	.	15.3536	0.74409	0.0:0.0:0.0:1.0	.	50	Q9NYQ8	FAT2_HUMAN	A	50	ENSP00000261800:T50A	ENSP00000261800:T50A	T	-	1	0	FAT2	150928538	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.975000	0.88055	2.023000	0.59567	0.459000	0.35465	ACC		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		147	623	0	0	0	1	0	147	623				
TCF4	6925	broad.mit.edu	37	18	53254332	53254332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53254332G>A	ENST00000356073.4	-	2	627	c.16C>T	c.(16-18)Cga>Tga	p.R6*	TCF4_ENST00000566279.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000568673.1_5'Flank|TCF4_ENST00000354452.3_Nonsense_Mutation_p.R6*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.R108*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000540999.1_5'Flank|TCF4_ENST00000564403.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000568740.1_Intron	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	6	Essential for MYOD1 inhibition. {ECO:0000250}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCAGCCATTCGCTGTTGGTGA	0.423																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(16-18)Cga>Tga		transcription factor 4							90.0	78.0	82.0					18																	53254332		2203	4300	6503	SO:0001587	stop_gained	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:53254332G>A	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.16C>T	18.37:g.53254332G>A	ENSP00000348374:p.Arg6*					TCF4_ENST00000537578.1_Intron|TCF4_ENST00000565018.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000567880.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.R6*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.R108*|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000564999.1_Nonsense_Mutation_p.R6*	p.R6*	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	2	627	-			6			Essential for MYOD1 inhibition (By similarity).		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Nonsense_Mutation	SNP	ENST00000356073.4	37	c.16C>T	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	37	5.979610	0.97168	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000398339	.	.	.	5.61	5.61	0.85477	.	0.000000	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.9293	15.8635	0.79043	0.0:0.1359:0.8641:0.0	.	.	.	.	X	6;6;108	.	ENSP00000346440:R6X	R	-	1	2	TCF4	51405330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.478000	0.81082	2.642000	0.89623	0.561000	0.74099	CGA		0.423	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		10	266	0	0	0	1	0	10	266				
GINS3	64785	broad.mit.edu	37	16	58438412	58438412	+	Missense_Mutation	SNP	G	G	A	rs377250240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58438412G>A	ENST00000318129.5	+	3	638	c.430G>A	c.(430-432)Gga>Aga	p.G144R	GINS3_ENST00000328514.7_Missense_Mutation_p.G66R|GINS3_ENST00000426538.2_Missense_Mutation_p.G183R	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	144					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GACTTTTATCGGACGTTTTCG	0.463																																						ENST00000318129.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						c.(430-432)Gga>Aga		GINS complex subunit 3 (Psf3 homolog)		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4396		0,0,2198	114.0	90.0	98.0		547,196,430	5.9	1.0	16		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GINS3	NM_001126129.1,NM_001126130.1,NM_022770.3	125,125,125	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	183/256,66/139,144/217	58438412	1,12995	2198	4300	6498	SO:0001583	missense	64785				DNA replication	nucleus		g.chr16:58438412G>A	BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.430G>A	16.37:g.58438412G>A	ENSP00000318196:p.Gly144Arg					GINS3_ENST00000426538.2_Missense_Mutation_p.G183R|GINS3_ENST00000328514.7_Missense_Mutation_p.G66R	p.G144R	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN			3	638	+			144					B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	c.430G>A	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370616	0.82573	0.0	1.16E-4	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T;T;T	0.17528	2.27;2.27;2.27	5.95	5.95	0.96441	.	0.100927	0.64402	D	0.000002	T	0.32133	0.0819	L	0.51914	1.62	0.58432	D	0.999997	D;D;P	0.76494	0.999;0.999;0.881	D;P;B	0.67900	0.954;0.875;0.141	T	0.01175	-1.1428	10	0.15952	T	0.53	-0.9754	14.5934	0.68386	0.0714:0.0:0.9286:0.0	.	183;66;144	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	R	183;66;144	ENSP00000401018:G183R;ENSP00000327449:G66R;ENSP00000318196:G144R	ENSP00000318196:G144R	G	+	1	0	GINS3	56995913	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.387000	0.59626	2.824000	0.97209	0.655000	0.94253	GGA		0.463	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		52	222	0	0	0	1	0	52	222				
CPNE9	151835	broad.mit.edu	37	3	9746668	9746668	+	Missense_Mutation	SNP	C	C	T	rs372048564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9746668C>T	ENST00000383832.3	+	4	440	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	84	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCAAAATCTGCGCTTCGATGT	0.602																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(250-252)Cgc>Tgc		copine family member IX							41.0	41.0	41.0					3																	9746668		1932	4141	6073	SO:0001583	missense	151835							g.chr3:9746668C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.250C>T	3.37:g.9746668C>T	ENSP00000373343:p.Arg84Cys					CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	p.R84C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			4	440	+	Medulloblastoma(99;0.227)		84			C2 1.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.250C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037375	0.93630	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.70516	-0.49;-0.49	3.7	3.7	0.42460	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.216690	0.37530	N	0.002044	D	0.87958	0.6309	H	0.96080	3.765	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.92327	0.5870	10	0.87932	D	0	.	15.7034	0.77558	0.0:1.0:0.0:0.0	.	84	Q8IYJ1	CPNE9_HUMAN	C	84	ENSP00000373343:R84C;ENSP00000373342:R84C	ENSP00000373342:R84C	R	+	1	0	CPNE9	9721668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.548000	0.82154	2.082000	0.62665	0.444000	0.29173	CGC		0.602	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		14	69	0	0	0	1	0	14	69				
KIAA1328	57536	broad.mit.edu	37	18	34802046	34802046	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802046C>T	ENST00000280020.5	+	10	1612	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R	KIAA1328_ENST00000543923.1_Silent_p.R422R|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000591619.1_Silent_p.R526R	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	530										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AACCTCAGCGCTATCCCTCCA	0.498																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1576-1578)cgC>cgT		KIAA1328							62.0	58.0	59.0					18																	34802046		1870	4103	5973	SO:0001819	synonymous_variant	57536							g.chr18:34802046C>T	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1590C>T	18.37:g.34802046C>T						KIAA1328_ENST00000543923.1_Silent_p.R422R|KIAA1328_ENST00000280020.5_Silent_p.R530R|KIAA1328_ENST00000586135.1_3'UTR	p.R526R			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	10	2364	+			530					Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	c.1578C>T	CCDS45855.1																																																																																				0.498	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		21	116	0	0	0	1	0	21	116				
ORMDL2	29095	broad.mit.edu	37	12	56212807	56212807	+	Silent	SNP	C	C	T	rs139659445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56212807C>T	ENST00000243045.5	+	2	219	c.24C>T	c.(22-24)agC>agT	p.S8S	ORMDL2_ENST00000552672.1_Intron|ORMDL2_ENST00000550836.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000548974.1_Silent_p.S8S|RP11-762I7.5_ENST00000552719.1_Intron|SARNP_ENST00000444631.2_5'Flank|SARNP_ENST00000552080.1_5'Flank|SARNP_ENST00000336133.3_5'Flank	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	8				S -> N (in Ref. 6; BAD96900). {ECO:0000305}.	ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|lung(3)	4						TGGCACACAGCGAAGTAAACC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17948	0.0		0.0	False		,,,				2504	0.0					ENST00000243045.5																			0				kidney(1)|lung(3)	4						c.(22-24)agC>agT		ORM1-like 2 (S. cerevisiae)		C		1,4405	2.1+/-5.4	0,1,2202	130.0	109.0	116.0		24	-2.8	1.0	12	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	ORMDL2	NM_014182.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		8/154	56212807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29095				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr12:56212807C>T	AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"""ORM1 (S. cerevisiae)-like 2"", ""ORM1-like 2 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.24C>T	12.37:g.56212807C>T						RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000550836.1_Intron|ORMDL2_ENST00000548974.1_Silent_p.S8S|ORMDL2_ENST00000552672.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron	p.S8S	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN			2	219	+			8	S -> N (in Ref. 6; BAD96900).				B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Silent	SNP	ENST00000243045.5	37	c.24C>T	CCDS8893.1																																																																																				0.527	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407934.1	NM_014182		37	196	0	0	0	1	0	37	196				
PKD2L1	9033	broad.mit.edu	37	10	102055907	102055907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102055907G>T	ENST00000318222.3	-	7	1710	c.1328C>A	c.(1327-1329)gCt>gAt	p.A443D	PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	443					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAGGTTGACAGCATTCATGTT	0.493																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1327-1329)gCt>gAt		polycystic kidney disease 2-like 1							180.0	133.0	149.0					10																	102055907		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102055907G>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1328C>A	10.37:g.102055907G>T	ENSP00000325296:p.Ala443Asp					PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D	p.A443D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	7	1710	-		Colorectal(252;0.117)	443					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1328C>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271172	0.95429	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.80304	-1.36;-1.36;-1.36	5.8	5.8	0.92144	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.92241	0.7539	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93266	0.6647	10	0.87932	D	0	-8.7781	19.0419	0.93004	0.0:0.0:1.0:0.0	.	396;443	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	368;443;443;441	ENSP00000345068:A368D;ENSP00000266049:A443D;ENSP00000325296:A443D	ENSP00000325296:A443D	A	-	2	0	PKD2L1	102045897	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	9.799000	0.99117	2.758000	0.94735	0.561000	0.74099	GCT		0.493	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		58	309	1	0	5.47352e-35	1	6.52624e-35	58	309				
URI1	8725	broad.mit.edu	37	19	30503346	30503346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30503346G>T	ENST00000542441.2	+	10	1630	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	URI1_ENST00000360605.4_Nonsense_Mutation_p.E427*|URI1_ENST00000392271.1_Nonsense_Mutation_p.E369*|URI1_ENST00000312051.6_Nonsense_Mutation_p.E405*			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	445					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CAGCTGCGAAGAAGCCACTTG	0.453																																						ENST00000392271.1																			0											c.(1105-1107)Gaa>Taa		URI1, prefoldin-like chaperone							98.0	94.0	95.0					19																	30503346		2203	4300	6503	SO:0001587	stop_gained	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30503346G>T	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1333G>T	19.37:g.30503346G>T	ENSP00000442436:p.Glu445*					URI1_ENST00000312051.6_Nonsense_Mutation_p.E405*|URI1_ENST00000360605.4_Nonsense_Mutation_p.E427*|URI1_ENST00000542441.2_Nonsense_Mutation_p.E445*	p.E369*	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			10	1630	+			445					A8K805|H7BY42|Q8TC23|Q9UNU3	Nonsense_Mutation	SNP	ENST00000542441.2	37	c.1105G>T	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	38	6.791179	0.97841	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	.	.	.	5.64	5.64	0.86602	.	0.144174	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.4912	19.7088	0.96084	0.0:0.0:1.0:0.0	.	.	.	.	X	443;369;445;405	.	ENSP00000312530:E405X	E	+	1	0	C19orf2	35195186	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	9.158000	0.94723	2.663000	0.90544	0.585000	0.79938	GAA		0.453	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		76	336	1	0	2.49587e-40	1	3.02561e-40	76	336				
ZNF239	8187	broad.mit.edu	37	10	44052679	44052679	+	Silent	SNP	G	G	A	rs534077175		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44052679G>A	ENST00000306006.6	-	2	1501	c.849C>T	c.(847-849)gcC>gcT	p.A283A	ZNF239_ENST00000426961.1_Silent_p.A283A|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000374446.2_Silent_p.A283A|ZNF239_ENST00000535642.1_Silent_p.A283A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTATGGACGGCATGATGGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22516	0.0		0.0	False		,,,				2504	0.0					ENST00000306006.6																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(847-849)gcC>gcT		zinc finger protein 239							145.0	148.0	147.0					10																	44052679		2172	4287	6459	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052679G>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.849C>T	10.37:g.44052679G>A						ZNF239_ENST00000426961.1_Silent_p.A283A|ZNF239_ENST00000374446.2_Silent_p.A283A|ZNF239_ENST00000535642.1_Silent_p.A283A	p.A283A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN			2	1501	-			283					Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	37	c.849C>T	CCDS41502.1																																																																																				0.498	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			138	617	0	0	0	1	0	138	617				
TCEB3CL	728929	broad.mit.edu	37	18	44549200	44549200	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549200G>T	ENST00000451265.1	-	1	1334	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	367	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						CACCCTTCCAGAACGGGTTCA	0.612																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1099-1101)Ctg>Atg		transcription elongation factor B polypeptide 3C-like							260.0	221.0	234.0					18																	44549200		1740	3470	5210	SO:0001583	missense	728929							g.chr18:44549200G>T			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1099C>A	18.37:g.44549200G>T	ENSP00000409932:p.Leu367Met					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.L367M	NM_001100817.1	NP_001094287.1					1	1334	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1099C>A	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376169	0.24857	.	.	ENSG00000234298	ENST00000451265	T	0.72282	-0.64	1.32	-1.58	0.08479	.	0.178952	0.26380	N	0.024708	T	0.79862	0.4519	M	0.87269	2.87	0.21445	N	0.99969	D	0.63880	0.993	D	0.65874	0.939	T	0.70230	-0.4929	10	0.72032	D	0.01	-11.7882	5.3947	0.16263	0.5484:0.0:0.4516:0.0	.	367	Q3SY89	EA3L1_HUMAN	M	367	ENSP00000409932:L367M	ENSP00000409932:L367M	L	-	1	2	TCEB3CL	42803198	0.186000	0.23225	0.000000	0.03702	0.000000	0.00434	0.117000	0.15583	-0.475000	0.06852	-0.378000	0.06908	CTG		0.612	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		80	2653	1	0	5.45024e-15	1	5.94044e-15	80	2653				
AKAP7	9465	broad.mit.edu	37	6	131520710	131520710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131520710G>A	ENST00000431975.2	+	6	797	c.699G>A	c.(697-699)aaG>aaA	p.K233K	AKAP7_ENST00000541650.1_Silent_p.K232K|AKAP7_ENST00000537868.1_5'Flank|AKAP7_ENST00000263050.3_5'Flank|AKAP7_ENST00000368123.4_Silent_p.K211K	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	233						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GGCTCCGTAAGAATGTGAGTG	0.453											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(697-699)aaG>aaA		A kinase (PRKA) anchor protein 7							129.0	106.0	114.0					6																	131520710		2203	4300	6503	SO:0001819	synonymous_variant	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131520710G>A	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.699G>A	6.37:g.131520710G>A			OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1588	AKAP7_ENST00000368123.4_Silent_p.K211K|AKAP7_ENST00000541650.1_Silent_p.K232K	p.K233K	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	6	797	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Silent	SNP	ENST00000431975.2	37	c.699G>A	CCDS5142.2																																																																																				0.453	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		27	247	0	0	0	1	0	27	247				
USPL1	10208	broad.mit.edu	37	13	31232733	31232733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232733C>T	ENST00000255304.4	+	9	2861	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	840					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCACAGCTGCCCACCCACAT	0.507																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(2518-2520)gCc>gTc		ubiquitin specific peptidase like 1							79.0	77.0	78.0					13																	31232733		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232733C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2519C>T	13.37:g.31232733C>T	ENSP00000255304:p.Ala840Val						p.A840V	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2861	+		Lung SC(185;0.0257)|Breast(139;0.203)	840					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.2519C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771724	0.31320	.	.	ENSG00000132952	ENST00000255304	T	0.15017	2.46	5.52	2.13	0.27403	.	1.346150	0.04664	N	0.409519	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	P	0.38078	0.617	B	0.37144	0.242	T	0.23726	-1.0180	10	0.40728	T	0.16	-1.4166	3.6569	0.08223	0.2388:0.4877:0.0:0.2735	.	840	Q5W0Q7	USPL1_HUMAN	V	840	ENSP00000255304:A840V	ENSP00000255304:A840V	A	+	2	0	USPL1	30130733	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.441000	0.06879	0.557000	0.29117	0.561000	0.74099	GCC		0.507	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		66	366	0	0	0	1	0	66	366				
ZNF488	118738	broad.mit.edu	37	10	48371057	48371057	+	Silent	SNP	G	G	A	rs369021822		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48371057G>A	ENST00000395702.2	+	2	752	c.525G>A	c.(523-525)gaG>gaA	p.E175E	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.E68E			Q96MN9	ZN488_HUMAN	zinc finger protein 488	175					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGAGGCCTGAGCTAACCTCAG	0.567																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(523-525)gaG>gaA		zinc finger protein 488							77.0	76.0	76.0					10																	48371057		2203	4300	6503	SO:0001819	synonymous_variant	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371057G>A	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.525G>A	10.37:g.48371057G>A						ZNF488_ENST00000586537.1_Silent_p.E68E|ZNF488_ENST00000494156.1_3'UTR	p.E175E			Q96MN9	ZN488_HUMAN			2	752	+			175					Q05CE0	Silent	SNP	ENST00000395702.2	37	c.525G>A	CCDS7217.1																																																																																				0.567	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		79	317	0	0	0	1	0	79	317				
SCN11A	11280	broad.mit.edu	37	3	38962576	38962576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38962576C>T	ENST00000302328.3	-	6	1081	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	295					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATAAGCTTCCGGGTTACTG	0.448																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(883-885)Gaa>Aaa		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						238.0	248.0	245.0					3																	38962576		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38962576C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.883G>A	3.37:g.38962576C>T	ENSP00000307599:p.Glu295Lys					SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K	p.E295K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	6	1081	-			295					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.883G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	6.753	0.507760	0.12883	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96396	-4.0;-4.0;-3.95;-3.86	3.66	-7.31	0.01441	Ion transport (1);	2582.250000	0.00166	N	0.000001	D	0.90130	0.6916	L	0.31476	0.935	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	D	0.84111	0.0401	10	0.20519	T	0.43	.	2.0681	0.03607	0.1205:0.1779:0.2383:0.4633	.	295	Q9UI33	SCNBA_HUMAN	K	295	ENSP00000307599:E295K;ENSP00000400945:E295K;ENSP00000416757:E295K;ENSP00000408028:E295K	ENSP00000307599:E295K	E	-	1	0	SCN11A	38937580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.012000	0.03649	-2.422000	0.00563	0.447000	0.29281	GAA		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		292	1324	0	0	0	1	0	292	1324				
CACNA1G	8913	broad.mit.edu	37	17	48676891	48676891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48676891C>T	ENST00000359106.5	+	17	3361	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1121					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCCTGAAGCGGAGAAGCCC	0.687																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3292-3294)Cgg>Tgg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						19.0	27.0	24.0					17																	48676891		2032	4162	6194	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48676891C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3361C>T	17.37:g.48676891C>T	ENSP00000352011:p.Arg1121Trp					CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W	p.R1098W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3664	+	Breast(11;6.7e-17)		1121					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3292C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887994	0.72410	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.47	4.47	0.54385	.	0.065248	0.64402	D	0.000006	D	0.91696	0.7375	M	0.73217	2.22	0.54753	D	0.99998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.995;0.997;0.996;0.999;0.997;0.994;0.999;0.994;0.995;0.999;0.994;0.995;0.999;0.992;0.996;0.982;0.977;0.999;0.995;0.988;0.987;0.999;0.982;0.99;0.992	D	0.92762	0.6225	10	0.72032	D	0.01	.	17.3164	0.87225	0.0:1.0:0.0:0.0	.	1098;1121;1121;1121;1121;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121;1098;1121;1098;1098;1098;1098;1121;1098;1121	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	W	1098;1098;1121;1098;1098;1098;1121;1121;1098;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121	ENSP00000353990:R1098W;ENSP00000339302:R1098W;ENSP00000392390:R1121W;ENSP00000347078:R1098W;ENSP00000409759:R1098W;ENSP00000425522:R1098W;ENSP00000426261:R1121W;ENSP00000425451:R1121W;ENSP00000422407:R1098W;ENSP00000426814:R1121W;ENSP00000427238:R1121W;ENSP00000423112:R1121W;ENSP00000420918:R1121W;ENSP00000426172:R1121W;ENSP00000423045:R1121W;ENSP00000427173:R1098W;ENSP00000426098:R1121W;ENSP00000425698:R1121W;ENSP00000426232:R1121W;ENSP00000423317:R1121W;ENSP00000350979:R1098W;ENSP00000352011:R1121W;ENSP00000414388:R1121W;ENSP00000423155:R1121W;ENSP00000422268:R1121W;ENSP00000421518:R1121W	ENSP00000339302:R1098W	R	+	1	2	CACNA1G	46031890	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	2.372000	0.44257	2.322000	0.78497	0.561000	0.74099	CGG		0.687	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	64	0	0	0	1	0	12	64				
CEP76	79959	broad.mit.edu	37	18	12699159	12699159	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12699159C>T	ENST00000262127.2	-	4	564	c.339G>A	c.(337-339)ttG>ttA	p.L113L	CEP76_ENST00000586887.1_5'UTR|CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	113					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTCCACCCAAAACCTGAA	0.363																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(337-339)ttG>ttA		centrosomal protein 76kDa							102.0	100.0	101.0					18																	12699159		2203	4300	6503	SO:0001819	synonymous_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12699159C>T	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.339G>A	18.37:g.12699159C>T						CEP76_ENST00000423709.2_Intron|RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000586887.1_5'UTR	p.L113L	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			4	564	-			113					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Silent	SNP	ENST00000262127.2	37	c.339G>A	CCDS11861.1																																																																																				0.363	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		45	330	0	0	0	1	0	45	330				
COL4A3	1285	broad.mit.edu	37	2	228145242	228145242	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228145242T>C	ENST00000396578.3	+	30	2472	c.2310T>C	c.(2308-2310)atT>atC	p.I770I	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	770	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGGAGAAATTGGACTCCCTG	0.502																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2308-2310)atT>atC		collagen, type IV, alpha 3 (Goodpasture antigen)							100.0	104.0	102.0					2																	228145242		1882	4120	6002	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228145242T>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2310T>C	2.37:g.228145242T>C						AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.I770I	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	30	2472	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	770			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.2310T>C	CCDS42829.1																																																																																				0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		134	379	0	0	0	1	0	134	379				
KEL	3792	broad.mit.edu	37	7	142655466	142655466	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142655466C>T	ENST00000355265.2	-	5	924	c.450G>A	c.(448-450)caG>caA	p.Q150Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	150					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTTGTAGAACTGGAAGGCTT	0.468																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(448-450)caG>caA		Kell blood group, metallo-endopeptidase							83.0	77.0	79.0					7																	142655466		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655466C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.450G>A	7.37:g.142655466C>T						KEL_ENST00000479768.2_5'UTR	p.Q150Q	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			5	924	-	Melanoma(164;0.059)		150					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.450G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616103	0.14129	.	.	ENSG00000197993	ENST00000460479	.	.	.	5.82	-11.6	0.00059	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.45015	D	0.998033	.	.	.	.	.	.	T	0.61212	-0.7108	4	.	.	.	-5.1862	10.7615	0.46268	0.0:0.5237:0.3217:0.1546	.	.	.	.	I	161	.	.	V	-	1	0	KEL	142365588	0.006000	0.16342	0.424000	0.26647	0.825000	0.46686	-1.360000	0.02600	-1.456000	0.01921	-0.225000	0.12378	GTT		0.468	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		33	241	0	0	0	1	0	33	241				
KCNB2	9312	broad.mit.edu	37	8	73848612	73848612	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848612T>G	ENST00000523207.1	+	3	1610	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	341					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTGATATTGTTTCTGGCCATG	0.468																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1021-1023)tTt>tGt		potassium voltage-gated channel, Shab-related subfamily, member 2							112.0	114.0	113.0					8																	73848612		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848612T>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1022T>G	8.37:g.73848612T>G	ENSP00000430846:p.Phe341Cys						p.F341C	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1610	+	Breast(64;0.137)		341					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1022T>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482737	0.84747	.	.	ENSG00000182674	ENST00000523207	D	0.98914	-5.23	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.46758	D	0.000266	D	0.99202	0.9723	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.87932	D	0	.	16.0257	0.80541	0.0:0.0:0.0:1.0	.	341	Q92953	KCNB2_HUMAN	C	341	ENSP00000430846:F341C	ENSP00000430846:F341C	F	+	2	0	KCNB2	74011166	1.000000	0.71417	0.953000	0.39169	0.987000	0.75469	8.040000	0.89188	2.182000	0.69389	0.533000	0.62120	TTT		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		140	689	0	0	0	1	0	140	689				
GOLGA7B	401647	broad.mit.edu	37	10	99624000	99624000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99624000G>T	ENST00000370602.1	+	4	432	c.367G>T	c.(367-369)Gac>Tac	p.D123Y		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	123						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						CCTACTTACAGACCCTGTGGA	0.527																																						ENST00000370602.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(367-369)Gac>Tac		golgin A7 family, member B							93.0	79.0	84.0					10																	99624000		2203	4300	6503	SO:0001583	missense	401647					Golgi membrane		g.chr10:99624000G>T	BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.367G>T	10.37:g.99624000G>T	ENSP00000359634:p.Asp123Tyr						p.D123Y	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN			4	432	+			123					Q5T4F5	Missense_Mutation	SNP	ENST00000370602.1	37	c.367G>T	CCDS31265.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363960	0.61513	.	.	ENSG00000155265	ENST00000370602	.	.	.	5.31	5.31	0.75309	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85953	0.1465	9	0.72032	D	0.01	-58.8523	17.9131	0.88940	0.0:0.0:1.0:0.0	.	123	Q2TAP0	GOG7B_HUMAN	Y	123	.	ENSP00000359634:D123Y	D	+	1	0	GOLGA7B	99613990	1.000000	0.71417	0.950000	0.38849	0.038000	0.13279	9.601000	0.98297	2.779000	0.95612	0.655000	0.94253	GAC		0.527	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		16	241	1	0	1.52009e-12	1	1.63397e-12	16	241				
ABCF1	23	broad.mit.edu	37	6	30553100	30553100	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30553100C>T	ENST00000326195.8	+	15	1567	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	ABCF1_ENST00000376545.3_Silent_p.N447N|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	485	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGACCTCAACGCTGTCATCT	0.562																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1453-1455)aaC>aaT		ATP-binding cassette, sub-family F (GCN20), member 1							216.0	159.0	179.0					6																	30553100		1511	2709	4220	SO:0001819	synonymous_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30553100C>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1455C>T	6.37:g.30553100C>T						ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.N447N	p.N485N	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			15	1567	+			485			ABC transporter 1.		A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	37	c.1455C>T	CCDS34380.1																																																																																				0.562	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			77	303	0	0	0	1	0	77	303				
LRRK2	120892	broad.mit.edu	37	12	40653291	40653291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40653291C>T	ENST00000298910.7	+	13	1486	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	LRRK2_ENST00000343742.2_Silent_p.S476S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	476					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCAACACTTCCCTGGATATAA	0.418																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(1426-1428)tcC>tcT		leucine-rich repeat kinase 2							96.0	94.0	95.0					12																	40653291		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40653291C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1428C>T	12.37:g.40653291C>T						LRRK2_ENST00000343742.2_Silent_p.S476S	p.S476S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			13	1486	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	476					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.1428C>T	CCDS31774.1																																																																																				0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		41	434	0	0	0	1	0	41	434				
FAT3	120114	broad.mit.edu	37	11	92534060	92534060	+	Silent	SNP	C	C	T	rs372331075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534060C>T	ENST00000298047.6	+	9	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P	FAT3_ENST00000525166.1_Silent_p.P2477P|FAT3_ENST00000409404.2_Silent_p.P2627P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2627	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATAGATCCCGATGATGGAG	0.498										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0.0	0.0	5008	,	,		20023	0.001		0.0	False		,,,				2504	0.0					ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7879-7881)ccC>ccT		FAT atypical cadherin 3		C		0,3886		0,0,1943	41.0	40.0	41.0		7881	-8.9	1.0	11		41	3,8291		0,3,4144	no	coding-synonymous	FAT3	NM_001008781.2		0,3,6087	TT,TC,CC		0.0362,0.0,0.0246		2627/4558	92534060	3,12177	1943	4147	6090	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534060C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7881C>T	11.37:g.92534060C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.P2627P|FAT3_ENST00000525166.1_Silent_p.P2477P	p.P2627P			Q8TDW7	FAT3_HUMAN			9	7898	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2627			Cadherin 24.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7881C>T																																																																																					0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	84	0	0	0	1	0	16	84				
ARID4A	5926	broad.mit.edu	37	14	58811415	58811415	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58811415T>G	ENST00000355431.3	+	12	1282	c.909T>G	c.(907-909)ccT>ccG	p.P303P	ARID4A_ENST00000348476.3_Silent_p.P303P|ARID4A_ENST00000395168.3_Silent_p.P303P|ARID4A_ENST00000431317.2_Silent_p.P303P	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	303					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTACAGCCTGAGGAAGAAC	0.333																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(907-909)ccT>ccG		AT rich interactive domain 4A (RBP1-like)							52.0	50.0	51.0					14																	58811415		2203	4300	6503	SO:0001819	synonymous_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58811415T>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.909T>G	14.37:g.58811415T>G						ARID4A_ENST00000395168.3_Silent_p.P303P|ARID4A_ENST00000431317.2_Silent_p.P303P|ARID4A_ENST00000348476.3_Silent_p.P303P	p.P303P	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			12	1282	+			303					Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	c.909T>G	CCDS9732.1																																																																																				0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		29	166	0	0	0	1	0	29	166				
EBF1	1879	broad.mit.edu	37	5	158526367	158526367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158526367G>A	ENST00000313708.6	-	1	402	c.120C>T	c.(118-120)aaC>aaT	p.N40N	EBF1_ENST00000380654.4_Silent_p.N40N|EBF1_ENST00000518836.1_5'UTR|RP11-175K6.1_ENST00000499583.1_lincRNA|EBF1_ENST00000517373.1_Silent_p.N40N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	40					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGCCGCCGTGTTGGCGTCCA	0.731			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(118-120)aaC>aaT		early B-cell factor 1							47.0	56.0	53.0					5																	158526367		2201	4296	6497	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158526367G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.120C>T	5.37:g.158526367G>A						EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.N40N|EBF1_ENST00000380654.4_Silent_p.N40N	p.N40N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	402	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	40					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.120C>T	CCDS4343.1																																																																																				0.731	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		16	647	0	0	0	1	0	16	647				
ENAM	10117	broad.mit.edu	37	4	71508510	71508510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71508510G>A	ENST00000396073.3	+	9	1648	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	456					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAACCAGCCCCTGGAGA	0.388																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1366-1368)aGc>aAc		enamelin							34.0	36.0	35.0					4																	71508510		2186	4297	6483	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508510G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1367G>A	4.37:g.71508510G>A	ENSP00000379383:p.Ser456Asn					ENAM_ENST00000472903.1_Intron	p.S456N	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1648	+			456					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1367G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	7.141	0.581836	0.13749	.	.	ENSG00000132464	ENST00000396073	T	0.35973	1.28	5.93	2.02	0.26589	.	0.623927	0.16087	N	0.230252	T	0.19208	0.0461	L	0.33485	1.01	0.09310	N	1	P	0.39940	0.696	B	0.35550	0.205	T	0.08351	-1.0726	10	0.25106	T	0.35	-1.0E-4	1.8656	0.03198	0.1769:0.1605:0.497:0.1656	.	456	Q9NRM1	ENAM_HUMAN	N	456	ENSP00000379383:S456N	ENSP00000379383:S456N	S	+	2	0	ENAM	71727374	0.000000	0.05858	0.235000	0.24058	0.080000	0.17528	0.331000	0.19733	0.388000	0.25054	0.655000	0.94253	AGC		0.388	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		61	225	0	0	0	1	0	61	225				
SPRED2	200734	broad.mit.edu	37	2	65540906	65540906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540906G>A	ENST00000356388.4	-	6	1175	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	329	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCGGGCGCGTCCTGGCA	0.642																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(985-987)gCg>gTg		sprouty-related, EVH1 domain containing 2							81.0	80.0	80.0					2																	65540906		2203	4299	6502	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540906G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.986C>T	2.37:g.65540906G>A	ENSP00000348753:p.Ala329Val					SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V	p.A329V	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1175	-			329			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.986C>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139092	0.94560	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88075	0.2803	10	0.87932	D	0	-13.311	14.8468	0.70267	0.0687:0.0:0.9313:0.0	.	326;329	E9PEP0;Q7Z698	.;SPRE2_HUMAN	V	329;326;344;211	ENSP00000348753:A329V;ENSP00000393697:A326V;ENSP00000390595:A344V;ENSP00000407627:A211V	ENSP00000348753:A329V	A	-	2	0	SPRED2	65394410	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.869000	0.99810	1.444000	0.47605	0.655000	0.94253	GCG		0.642	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			220	601	0	0	0	1	0	220	601				
MAP1S	55201	broad.mit.edu	37	19	17836832	17836832	+	Silent	SNP	C	C	T	rs202224843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17836832C>T	ENST00000324096.4	+	5	790	c.639C>T	c.(637-639)taC>taT	p.Y213Y	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.Y187Y	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	213	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCCTGGAGTACGTGGCTGAGT	0.701																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(637-639)taC>taT		microtubule-associated protein 1S							25.0	26.0	26.0					19																	17836832		2202	4299	6501	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17836832C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.639C>T	19.37:g.17836832C>T						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.Y187Y	p.Y213Y	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	790	+			213			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.639C>T	CCDS32954.1																																																																																				0.701	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		41	111	0	0	0	1	0	41	111				
DPAGT1	1798	broad.mit.edu	37	11	118978770	118978770	+	5'UTR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118978770G>T	ENST00000409993.2	-	0	271				C2CD2L_ENST00000528586.1_5'Flank|C2CD2L_ENST00000336702.3_Missense_Mutation_p.V107L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCGGGCTTGGGTGCGAGCGCT	0.662																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(319-321)Gtg>Ttg		C2CD2-like							22.0	25.0	24.0					11																	118978770		2143	4221	6364	SO:0001623	5_prime_UTR_variant	9854					integral to membrane		g.chr11:118978770G>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.-1281C>A	11.37:g.118978770G>T						DPAGT1_ENST00000409993.2_5'UTR	p.V107L	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			1	678	+			107					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.319G>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145253	0.77888	.	.	ENSG00000172375	ENST00000336702	T	0.24908	1.83	4.63	3.72	0.42706	.	0.372499	0.27764	N	0.017957	T	0.28732	0.0712	L	0.40543	1.245	0.80722	D	1	P;P	0.50528	0.936;0.936	P;P	0.50405	0.64;0.64	T	0.03240	-1.1057	10	0.72032	D	0.01	-5.5096	9.8818	0.41238	0.096:0.0:0.904:0.0	.	107;107	O14523;O14523-2	C2C2L_HUMAN;.	L	107	ENSP00000338885:V107L	ENSP00000338885:V107L	V	+	1	0	C2CD2L	118483980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.226000	0.42963	1.171000	0.42768	0.563000	0.77884	GTG		0.662	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		42	235	1	0	5.78141e-17	1	6.36782e-17	42	235				
SNHG14	104472715	broad.mit.edu	37	15	25472117	25472117	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25472117T>C	ENST00000453082.2	+	0	1159				SNORD115-30_ENST00000364117.1_RNA|SNORD115-32_ENST00000364079.1_RNA|SNORD115-31_ENST00000365318.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGCCAATGTCAGTCAGCTA	0.612																																						ENST00000453082.2																			0																																																			0							g.chr15:25472117T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25472117T>C								NR_003343.1						0	1159	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.612	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			40	154	0	0	0	1	0	40	154				
FOXP1	27086	broad.mit.edu	37	3	71026839	71026839	+	Silent	SNP	G	G	A	rs372403441		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71026839G>A	ENST00000318789.4	-	16	1908	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	FOXP1_ENST00000475937.1_Silent_p.N461N|FOXP1_ENST00000493089.1_Silent_p.N460N|FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000498215.1_Silent_p.N461N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	461					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAACTTCTGCGTTCTTATAAA	0.338			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1381-1383)aaC>aaT		forkhead box P1		A		1,4405	2.1+/-5.4	0,1,2202	126.0	131.0	129.0		1383	-8.8	0.3	3		129	0,8600		0,0,4300	no	coding-synonymous	FOXP1	NM_032682.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		461/678	71026839	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71026839G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1383C>T	3.37:g.71026839G>A						FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000498215.1_Silent_p.N461N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000493089.1_Silent_p.N460N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000475937.1_Silent_p.N461N	p.N461N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	16	1908	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	461					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.1383C>T	CCDS2914.1																																																																																				0.338	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		70	302	0	0	0	1	0	70	302				
OR1M1	125963	broad.mit.edu	37	19	9204616	9204616	+	Silent	SNP	C	C	T	rs142350139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9204616C>T	ENST00000429566.3	+	1	762	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGCAGGCGGCAGGAAGA	0.582																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(694-696)ggC>ggT		olfactory receptor, family 1, subfamily M, member 1				1,4405	2.1+/-5.4	0,1,2202	138.0	123.0	128.0		696	-7.6	0.0	19	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	OR1M1	NM_001004456.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		232/314	9204616	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204616C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.696C>T	19.37:g.9204616C>T							p.G232G	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	762	+			232					B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.696C>T	CCDS32896.1																																																																																				0.582	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			125	573	0	0	0	1	0	125	573				
GTF3C1	2975	broad.mit.edu	37	16	27506672	27506672	+	Missense_Mutation	SNP	G	G	A	rs531481141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27506672G>A	ENST00000356183.4	-	15	2507	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTGCTTTATCGTTCTCCGTTC	0.602																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(2491-2493)aCg>aTg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							60.0	51.0	54.0					16																	27506672		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27506672G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2492C>T	16.37:g.27506672G>A	ENSP00000348510:p.Thr831Met					GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	p.T831M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			15	2507	-			831					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.2492C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142122	0.37825	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25579	1.79	5.55	-8.25	0.01025	.	1.765350	0.02242	N	0.065889	T	0.17577	0.0422	L	0.50333	1.59	0.09310	N	1	B;B	0.22211	0.039;0.066	B;B	0.15484	0.006;0.013	T	0.24799	-1.0150	10	0.56958	D	0.05	-10.6773	0.692	0.00893	0.3206:0.1841:0.3077:0.1876	.	831;831	Q12789;Q12789-3	TF3C1_HUMAN;.	M	831;829	ENSP00000348510:T831M	ENSP00000348510:T831M	T	-	2	0	GTF3C1	27414173	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.124000	0.01318	-1.048000	0.03238	-0.152000	0.13540	ACG		0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		38	237	0	0	0	1	0	38	237				
SF3B3	23450	broad.mit.edu	37	16	70589061	70589061	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589061G>A	ENST00000302516.5	+	13	1873	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	554					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGCGACAAGTGGTGATTGCCC	0.468																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1660-1662)gtG>gtA		splicing factor 3b, subunit 3, 130kDa							279.0	264.0	269.0					16																	70589061		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589061G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1662G>A	16.37:g.70589061G>A							p.V554V	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			13	1873	+		Ovarian(137;0.0694)	554					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1662G>A	CCDS10894.1																																																																																				0.468	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		119	502	0	0	0	1	0	119	502				
MYO5B	4645	broad.mit.edu	37	18	47429162	47429162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47429162C>T	ENST00000285039.7	-	21	2912	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	MYO5B_ENST00000324581.6_Silent_p.V12V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	871	Arg-rich.|IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCAGCCCCGCACGTGCTTCT	0.607																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2611-2613)gtG>gtA		myosin VB							25.0	28.0	27.0					18																	47429162		2053	4201	6254	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47429162C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2613G>A	18.37:g.47429162C>T						MYO5B_ENST00000324581.6_Silent_p.V12V	p.V871V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	21	2912	-			871			Arg-rich.|IQ 5.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.2613G>A	CCDS42436.1																																																																																				0.607	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			42	138	0	0	0	1	0	42	138				
NACC1	112939	broad.mit.edu	37	19	13246249	13246249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246249G>T	ENST00000292431.4	+	2	354	c.228G>T	c.(226-228)caG>caT	p.Q76H		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	76	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGCAGCCCCAGTCTTTCCAGC	0.647																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(226-228)caG>caT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							34.0	35.0	35.0					19																	13246249		2203	4300	6503	SO:0001583	missense	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246249G>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.228G>T	19.37:g.13246249G>T	ENSP00000292431:p.Gln76His						p.Q76H	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	354	+			76			BTB.			Missense_Mutation	SNP	ENST00000292431.4	37	c.228G>T	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919900	0.52653	.	.	ENSG00000160877	ENST00000292431	T	0.67698	-0.28	5.05	4.01	0.46588	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	L	0.31207	0.915	0.42308	D	0.992207	D	0.76494	0.999	D	0.70716	0.97	T	0.70887	-0.4750	10	0.51188	T	0.08	.	11.2422	0.48977	0.0898:0.0:0.9102:0.0	.	76	Q96RE7	NACC1_HUMAN	H	76	ENSP00000292431:Q76H	ENSP00000292431:Q76H	Q	+	3	2	NACC1	13107249	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	1.681000	0.37618	1.129000	0.42072	0.650000	0.86243	CAG		0.647	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		72	271	1	0	3.31162e-33	1	3.92088e-33	72	271				
PARP2	10038	broad.mit.edu	37	14	20825861	20825861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20825861A>G	ENST00000250416.5	+	16	1684	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.T540A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	553	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATGGTTATACCCTCAACTA	0.408								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000250416.5																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1657-1659)Acc>Gcc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							116.0	111.0	113.0					14																	20825861		1882	4122	6004	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825861A>G	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1657A>G	14.37:g.20825861A>G	ENSP00000250416:p.Thr553Ala					PARP2_ENST00000429687.3_Missense_Mutation_p.T540A|PARP2_ENST00000527915.1_3'UTR	p.T553A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	16	1684	+	all_cancers(95;0.00092)	all_lung(585;0.235)	553			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1657A>G	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872388	0.33069	.	.	ENSG00000129484	ENST00000429687;ENST00000250416	T;T	0.04809	3.55;3.55	5.65	4.52	0.55395	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.204024	0.42420	D	0.000701	T	0.04724	0.0128	L	0.40543	1.245	0.80722	D	1	B;B	0.30511	0.028;0.282	B;B	0.24006	0.008;0.05	T	0.47355	-0.9124	10	0.29301	T	0.29	-16.6007	10.6316	0.45541	0.9247:0.0:0.0753:0.0	.	540;553	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	A	540;553	ENSP00000392972:T540A;ENSP00000250416:T553A	ENSP00000250416:T553A	T	+	1	0	PARP2	19895701	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.408000	0.59761	1.166000	0.42689	0.533000	0.62120	ACC		0.408	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			77	408	0	0	0	1	0	77	408				
ATG2B	55102	broad.mit.edu	37	14	96795031	96795031	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96795031A>C	ENST00000359933.4	-	13	2847	c.1954T>G	c.(1954-1956)Tct>Gct	p.S652A		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	652					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTATTCTCAGAATGCTTATAA	0.333																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1954-1956)Tct>Gct		autophagy related 2B							69.0	64.0	65.0					14																	96795031		1800	4077	5877	SO:0001583	missense	55102							g.chr14:96795031A>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1954T>G	14.37:g.96795031A>C	ENSP00000353010:p.Ser652Ala						p.S652A	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	13	2847	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	652					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.1954T>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716959	0.48622	.	.	ENSG00000066739	ENST00000359933	T	0.10005	2.92	5.84	5.84	0.93424	.	0.549872	0.16658	U	0.204891	T	0.15478	0.0373	M	0.62723	1.935	0.33735	D	0.618764	B	0.10296	0.003	B	0.06405	0.002	T	0.06752	-1.0809	10	0.30854	T	0.27	.	16.2233	0.82274	1.0:0.0:0.0:0.0	.	652	Q96BY7	ATG2B_HUMAN	A	652	ENSP00000353010:S652A	ENSP00000353010:S652A	S	-	1	0	ATG2B	95864784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.243000	0.73865	0.482000	0.46254	TCT		0.333	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		47	258	0	0	0	1	0	47	258				
ST18	9705	broad.mit.edu	37	8	53074010	53074010	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53074010A>C	ENST00000276480.7	-	14	2202	c.1519T>G	c.(1519-1521)Ttt>Gtt	p.F507V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	507					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)			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)				TGGGCATCAAAACTGGCATAA	0.423																																						ENST00000276480.7																			0				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.(1519-1521)Ttt>Gtt		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							210.0	202.0	205.0					8																	53074010		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53074010A>C	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.1519T>G	8.37:g.53074010A>C	ENSP00000276480:p.Phe507Val						p.F507V	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			14	2202	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	507					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1519T>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.047112	0.93740	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.56103	0.48;0.48	5.46	5.46	0.80206	Myelin transcription factor 1 (1);	0.047656	0.85682	D	0.000000	T	0.71459	0.3342	M	0.80183	2.485	0.80722	D	1	D;D	0.56968	0.978;0.957	P;P	0.60473	0.875;0.855	T	0.75545	-0.3280	10	0.59425	D	0.04	-7.8199	15.8762	0.79166	1.0:0.0:0.0:0.0	.	507;507	E5RHS3;O60284	.;ST18_HUMAN	V	507	ENSP00000276480:F507V;ENSP00000428521:F507V	ENSP00000276480:F507V	F	-	1	0	ST18	53236563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.199000	0.70637	0.456000	0.33151	TTT		0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			116	530	0	0	0	1	0	116	530				
AGXT2	64902	broad.mit.edu	37	5	35026586	35026586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35026586C>T	ENST00000231420.6	-	8	999	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	267					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TTGAATTGCTCAATATACTGA	0.378																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(799-801)Gag>Aag		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						118.0	103.0	108.0					5																	35026586		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35026586C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.799G>A	5.37:g.35026586C>T	ENSP00000231420:p.Glu267Lys						p.E267K	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	8	999	-	all_lung(31;4.52e-05)		267					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.799G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233410	0.22626	.	.	ENSG00000113492	ENST00000231420	T	0.21734	1.99	5.7	5.7	0.88788	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.329425	0.35838	N	0.002953	T	0.19485	0.0468	L	0.28014	0.82	0.40918	D	0.98428	B;B	0.30914	0.246;0.3	B;B	0.37091	0.241;0.105	T	0.04991	-1.0913	10	0.10111	T	0.7	-14.2225	19.438	0.94806	0.0:1.0:0.0:0.0	.	267;267	E9PDL7;Q9BYV1	.;AGT2_HUMAN	K	267	ENSP00000231420:E267K	ENSP00000231420:E267K	E	-	1	0	AGXT2	35062343	0.997000	0.39634	1.000000	0.80357	0.420000	0.31355	2.187000	0.42602	2.679000	0.91253	0.655000	0.94253	GAG		0.378	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		34	230	0	0	0	1	0	34	230				
ARHGEF37	389337	broad.mit.edu	37	5	148996246	148996246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148996246C>T	ENST00000333677.6	+	5	738	c.575C>T	c.(574-576)gCc>gTc	p.A192V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	192	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GATGCCAGTGCCTATCCTGTC	0.522																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(574-576)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 37							110.0	105.0	107.0					5																	148996246		1972	4162	6134	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148996246C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.575C>T	5.37:g.148996246C>T	ENSP00000328083:p.Ala192Val						p.A192V	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			5	738	+			192			DH.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.575C>T	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698084	0.68386	.	.	ENSG00000183111	ENST00000333677	T	0.30448	1.53	5.17	5.17	0.71159	Dbl homology (DH) domain (5);	0.056528	0.64402	D	0.000001	T	0.49372	0.1553	L	0.43923	1.385	0.58432	D	0.999999	D	0.76494	0.999	D	0.68765	0.96	T	0.49762	-0.8905	10	0.87932	D	0	-5.8857	19.0356	0.92976	0.0:1.0:0.0:0.0	.	192	A1IGU5	ARH37_HUMAN	V	192	ENSP00000328083:A192V	ENSP00000328083:A192V	A	+	2	0	ARHGEF37	148976439	1.000000	0.71417	0.993000	0.49108	0.143000	0.21401	3.540000	0.53611	2.584000	0.87258	0.467000	0.42956	GCC		0.522	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		53	287	0	0	0	1	0	53	287				
TET2	54790	broad.mit.edu	37	4	106156867	106156867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106156867C>A	ENST00000540549.1	+	3	2628	c.1768C>A	c.(1768-1770)Ctt>Att	p.L590I	TET2_ENST00000513237.1_Missense_Mutation_p.L611I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I|TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	590					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCATCAATTCTTCAGTATCA	0.463			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1831-1833)Ctt>Att		tet methylcytosine dioxygenase 2							71.0	72.0	72.0					4																	106156867		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156867C>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1768C>A	4.37:g.106156867C>A	ENSP00000442788:p.Leu590Ile					TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I|TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000540549.1_Missense_Mutation_p.L590I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I	p.L611I			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2628	+		Myeloproliferative disorder(5;0.0393)	590			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1831C>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902755	0.33628	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.59	5.59	0.84812	.	15.888400	0.00166	N	0.000011	T	0.45094	0.1325	L	0.34521	1.04	0.33163	D	0.547245	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.946;0.946;0.982	T	0.38887	-0.9640	10	0.56958	D	0.05	.	17.7861	0.88538	0.0:1.0:0.0:0.0	.	611;590;590	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	590;590;590;611;590;590;590;590	ENSP00000306705:L590I;ENSP00000442788:L590I;ENSP00000442867:L590I;ENSP00000425443:L611I;ENSP00000369351:L590I;ENSP00000378245:L590I;ENSP00000391448:L590I	ENSP00000265149:L590I	L	+	1	0	TET2	106376316	0.996000	0.38824	0.038000	0.18304	0.044000	0.14063	3.588000	0.53964	2.631000	0.89168	0.650000	0.86243	CTT		0.463	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		34	331	1	0	6.00712e-18	1	6.65163e-18	34	331				
PCDHB15	56121	broad.mit.edu	37	5	140625193	140625193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140625193T>C	ENST00000231173.3	+	1	47	c.47T>C	c.(46-48)aTt>aCt	p.I16T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	16					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGTCCTGATTCTCCTTCTT	0.532																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(46-48)aTt>aCt									67.0	73.0	71.0					5																	140625193		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625193T>C	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.47T>C	5.37:g.140625193T>C	ENSP00000231173:p.Ile16Thr						p.I16T	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	47	+			16					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.47T>C	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	9.688	1.151235	0.21371	.	.	ENSG00000113248	ENST00000231173	T	0.49720	0.77	4.6	4.6	0.57074	.	.	.	.	.	T	0.48677	0.1513	M	0.68728	2.09	0.25000	N	0.991476	B	0.10296	0.003	B	0.09377	0.004	T	0.46359	-0.9197	9	0.59425	D	0.04	.	13.643	0.62263	0.0:0.0:0.0:1.0	.	16	Q9Y5E8	PCDBF_HUMAN	T	16	ENSP00000231173:I16T	ENSP00000231173:I16T	I	+	2	0	PCDHB15	140605377	0.000000	0.05858	0.988000	0.46212	0.534000	0.34807	0.286000	0.18902	2.022000	0.59522	0.402000	0.26972	ATT		0.532	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		80	246	0	0	0	1	0	80	246				
PYHIN1	149628	broad.mit.edu	37	1	158913768	158913768	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158913768G>T	ENST00000368140.1	+	6	1436	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Splice_Site_p.Q388H|PYHIN1_ENST00000392254.2_Splice_Site_p.Q397H|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	397	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTTTCATCCAGGTGAGAAATA	0.338																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.e6+1		pyrin and HIN domain family, member 1							51.0	52.0	52.0					1																	158913768		2203	4299	6502	SO:0001630	splice_region_variant	149628				cell cycle	nuclear speck		g.chr1:158913768G>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1191+1G>T	1.37:g.158913768G>T						PYHIN1_ENST00000392252.3_Splice_Site_p.Q388_splice|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388_splice|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Splice_Site_p.Q397_splice	p.Q397_splice	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			6	1436	+	all_hematologic(112;0.0378)		397			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Splice_Site	SNP	ENST00000368140.1	37	c.1191_splice	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369596	0.42003	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.04	3.04	0.35103	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.31918	0.0812	L	0.61218	1.895	0.40710	D	0.982568	D;D;D;D	0.65815	0.995;0.991;0.995;0.992	D;P;P;P	0.64506	0.926;0.892;0.859;0.782	T	0.12243	-1.0555	9	0.87932	D	0	.	9.6522	0.39904	0.0:0.0:1.0:0.0	.	388;397;388;397	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	H	397;388;397;388	ENSP00000357122:Q397H;ENSP00000357120:Q388H;ENSP00000376083:Q397H;ENSP00000376082:Q388H	ENSP00000357120:Q388H	Q	+	3	2	PYHIN1	157180392	1.000000	0.71417	0.097000	0.21041	0.107000	0.19398	3.661000	0.54503	1.675000	0.50919	0.591000	0.81541	CAG		0.338	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	Missense_Mutation	82	208	1	0	3.3814e-41	1	4.10641e-41	82	208				
ZBTB26	57684	broad.mit.edu	37	9	125681859	125681859	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125681859A>G	ENST00000373656.3	-	2	428	c.355T>C	c.(355-357)Tgc>Cgc	p.C119R	ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GCCTGTGTGCACCGTTCTACA	0.443																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(355-357)Tgc>Cgc		zinc finger and BTB domain containing 26							137.0	120.0	125.0					9																	125681859		2203	4300	6503	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681859A>G	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.355T>C	9.37:g.125681859A>G	ENSP00000362760:p.Cys119Arg					ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	p.C119R	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	428	-			119					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.355T>C	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955099	0.53293	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.33438	1.41;1.41	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76647	-0.2882	10	0.87932	D	0	.	15.6989	0.77528	1.0:0.0:0.0:0.0	.	119	Q9HCK0	ZBT26_HUMAN	R	119	ENSP00000362760:C119R;ENSP00000362758:C119R	ENSP00000362758:C119R	C	-	1	0	ZBTB26	124721680	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.962000	0.93254	2.107000	0.64212	0.482000	0.46254	TGC		0.443	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		43	484	0	0	0	1	0	43	484				
TRAK2	66008	broad.mit.edu	37	2	202272137	202272137	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202272137A>T	ENST00000332624.3	-	3	703	c.275T>A	c.(274-276)tTc>tAc	p.F92Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	92	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATGTAACGGAAAGTCTCTTC	0.388																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(274-276)tTc>tAc		trafficking protein, kinesin binding 2							68.0	59.0	62.0					2																	202272137		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202272137A>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.275T>A	2.37:g.202272137A>T	ENSP00000328875:p.Phe92Tyr					TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	p.F92Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			3	703	-			92					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.275T>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803037	0.90623	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.18174	2.23;2.23	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.987;0.995	T	0.08472	-1.0720	10	0.72032	D	0.01	.	15.2183	0.73288	1.0:0.0:0.0:0.0	.	92;92	E7EV21;O60296	.;TRAK2_HUMAN	Y	92	ENSP00000328875:F92Y;ENSP00000409333:F92Y	ENSP00000328875:F92Y	F	-	2	0	TRAK2	201980382	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.194000	0.89721	2.180000	0.69256	0.460000	0.39030	TTC		0.388	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		54	140	0	0	0	1	0	54	140				
DDX47	51202	broad.mit.edu	37	12	12974144	12974144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974144C>T	ENST00000358007.3	+	3	206	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	DDX47_ENST00000352940.4_Missense_Mutation_p.R62C|DDX47_ENST00000392155.2_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	62	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCTTTTAGGTCGTGATATCAT	0.448																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(184-186)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							68.0	67.0	68.0					12																	12974144		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974144C>T	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.184C>T	12.37:g.12974144C>T	ENSP00000350698:p.Arg62Cys					DDX47_ENST00000352940.4_Missense_Mutation_p.R62C|DDX47_ENST00000392155.2_3'UTR|RP11-59H1.3_ENST00000534843.1_3'UTR	p.R62C	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	3	206	+		Prostate(47;0.0526)	62			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.184C>T	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821218	0.71028	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.16743	2.32;2.32	5.6	4.69	0.59074	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.062472	0.64402	D	0.000009	T	0.41858	0.1177	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;P	0.72338	0.977;0.977;0.911;0.887	T	0.41448	-0.9508	10	0.87932	D	0	-5.6338	14.3519	0.66708	0.2828:0.7172:0.0:0.0	.	62;62;62;62	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	C	62	ENSP00000319578:R62C;ENSP00000350698:R62C	ENSP00000319578:R62C	R	+	1	0	DDX47	12865411	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.246000	0.51414	1.327000	0.45338	0.555000	0.69702	CGT		0.448	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		78	401	0	0	0	1	0	78	401				
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A	rs372118864		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179547466G>A	ENST00000591111.1	-	133	32325	c.32101C>T	c.(32101-32103)Cgg>Tgg	p.R10701W	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11018W|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)	p.R9774W(1)		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)			TCATACTCCCGCTCCTCGTAT	0.358																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.R9774W(1)	lung(1)	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.(33052-33054)Cgg>Tgg		titin		G	,,,TRP/ARG	0,3780		0,0,1890	299.0	282.0	287.0		,,,29320	4.6	0.0	2		287	1,8215		0,1,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,101	0,1,5997	AA,AG,GG		0.0122,0.0,0.0083	,,,benign	,,,9774/33424	179547466	1,11995	1890	4108	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179547466G>A	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.32101C>T	2.37:g.179547466G>A	ENSP00000465570:p.Arg10701Trp					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10701W	p.R11018W	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)		135	33276	-			10701			Glu-rich.|Pro-rich.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.33052C>T		.	.	.	.	.	.	.	.	.	.	G	7.966	0.748107	0.15710	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.70516	-0.49;-0.13	5.45	4.55	0.56014	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54615	0.1869	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	0.87932	D	0	.	11.0493	0.47878	0.1365:0.0:0.8635:0.0	.	10701;10437	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	W	9774;632	ENSP00000343764:R9774W;ENSP00000401501:R632W	ENSP00000343764:R9774W	R	-	1	2	TTN	179255711	0.009000	0.17119	0.011000	0.14972	0.004000	0.04260	1.371000	0.34250	2.725000	0.93324	0.655000	0.94253	CGG		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		209	715	0	0	0	1	0	209	715				
EDDM3A	10876	broad.mit.edu	37	14	21215860	21215860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21215860C>T	ENST00000326842.2	+	2	248	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	41					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTACTTAAGTCCAAGTCGAGA	0.393																																						ENST00000326842.2																			0				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(121-123)Cca>Tca		epididymal protein 3A							96.0	96.0	96.0					14																	21215860		2203	4300	6503	SO:0001583	missense	10876				sperm displacement	extracellular space		g.chr14:21215860C>T	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.121C>T	14.37:g.21215860C>T	ENSP00000315098:p.Pro41Ser						p.P41S	NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN			2	248	+			41					Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	37	c.121C>T	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	C	7.082	0.570464	0.13560	.	.	ENSG00000181562	ENST00000326842	T	0.44881	0.91	2.46	-0.08	0.13708	Ribonuclease A, domain (2);	1.089430	0.07136	N	0.846540	T	0.30135	0.0755	L	0.38531	1.155	0.09310	N	1	B	0.28233	0.204	B	0.32724	0.151	T	0.30475	-0.9977	10	0.21540	T	0.41	.	3.3642	0.07198	0.304:0.542:0.0:0.154	.	41	Q14507	EP3A_HUMAN	S	41	ENSP00000315098:P41S	ENSP00000315098:P41S	P	+	1	0	EDDM3A	20285700	0.000000	0.05858	0.036000	0.18154	0.306000	0.27790	-0.629000	0.05508	-0.231000	0.09825	0.313000	0.20887	CCA		0.393	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			80	387	0	0	0	1	0	80	387				
ARHGAP9	64333	broad.mit.edu	37	12	57873102	57873102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57873102G>A	ENST00000356411.2	-	2	226	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L101F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	30	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAGGCATAGAGGGCACAGAGC	0.592																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(301-303)Ctc>Ttc		Rho GTPase activating protein 9							58.0	58.0	58.0					12																	57873102		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57873102G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.88C>T	12.37:g.57873102G>A	ENSP00000348782:p.Leu30Phe					ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L30F	p.L101F			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		5	493	-			30					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.301C>T		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843155	0.71488	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.79	3.88	0.44766	Src homology-3 domain (4);	0.110363	0.41823	D	0.000814	T	0.79347	0.4430	M	0.89414	3.03	0.28020	N	0.934572	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.986;0.998;0.976;0.986	T	0.72121	-0.4386	10	0.54805	T	0.06	.	9.5783	0.39472	0.1051:0.0:0.8949:0.0	.	30;109;30;30;30	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	F	30;30;30;101;79	ENSP00000377380:L30F;ENSP00000348782:L30F;ENSP00000394307:L30F;ENSP00000377386:L101F	ENSP00000344852:L79F	L	-	1	0	ARHGAP9	56159369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.208000	0.58486	2.357000	0.79964	0.655000	0.94253	CTC		0.592	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		44	427	0	0	0	1	0	44	427				
FGD1	2245	broad.mit.edu	37	X	54496518	54496518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496518G>A	ENST00000375135.3	-	4	1765	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	344					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D344D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcctcgtcgtcctcct	0.632																																						ENST00000375135.3																			1	Substitution - coding silent(1)	p.D344D(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1030-1032)gaC>gaT		FYVE, RhoGEF and PH domain containing 1							34.0	31.0	32.0					X																	54496518		2203	4300	6503	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496518G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1032C>T	X.37:g.54496518G>A							p.D344D	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			4	1765	-			344					Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.1032C>T	CCDS14359.1																																																																																				0.632	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		35	102	0	0	0	1	0	35	102				
ZFP42	132625	broad.mit.edu	37	4	188924725	188924725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:188924725G>A	ENST00000326866.4	+	4	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	255					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGCGGAAAGCGCTTCTCTCTG	0.498																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(763-765)cGc>cAc		ZFP42 zinc finger protein							82.0	83.0	83.0					4																	188924725		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924725G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.764G>A	4.37:g.188924725G>A	ENSP00000317686:p.Arg255His					ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1172	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	255					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.764G>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180323	0.57800	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.98792	-5.14;-5.14	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063070	0.64402	D	0.000006	D	0.97936	0.9321	L	0.55834	1.745	0.37700	D	0.924187	D	0.89917	1.0	P	0.54759	0.76	D	0.98586	1.0652	10	0.56958	D	0.05	.	10.8275	0.46643	0.0938:0.0:0.9062:0.0	.	255	Q96MM3	ZFP42_HUMAN	H	255	ENSP00000317686:R255H;ENSP00000424662:R255H	ENSP00000317686:R255H	R	+	2	0	ZFP42	189161719	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	7.563000	0.82314	1.443000	0.47586	0.655000	0.94253	CGC		0.498	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		60	188	0	0	0	1	0	60	188				
RYR3	6263	broad.mit.edu	37	15	33927881	33927881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33927881C>T	ENST00000389232.4	+	26	3312	c.3242C>T	c.(3241-3243)gCa>gTa	p.A1081V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1081	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.			A -> P (in Ref. 1; BAA23795). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGATCTTATGCAGTGAGATCT	0.527																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3241-3243)gCa>gTa		ryanodine receptor 3							72.0	73.0	73.0					15																	33927881		2052	4232	6284	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927881C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3242C>T	15.37:g.33927881C>T	ENSP00000373884:p.Ala1081Val					RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	p.A1081V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3312	+		all_lung(180;7.18e-09)	1081	A -> P (in Ref. 1; BAA23795).		4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3242C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224308	0.95139	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74209	-0.82;-0.82	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.85416	0.1140	10	0.37606	T	0.19	.	19.1899	0.93660	0.0:1.0:0.0:0.0	.	1081;1081	Q15413-2;Q15413	.;RYR3_HUMAN	V	1081	ENSP00000373884:A1081V;ENSP00000399610:A1081V	ENSP00000354735:A1081V	A	+	2	0	RYR3	31715173	1.000000	0.71417	0.836000	0.33094	0.901000	0.52897	7.559000	0.82265	2.760000	0.94817	0.655000	0.94253	GCA		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			27	143	0	0	0	1	0	27	143				
ZNF768	79724	broad.mit.edu	37	16	30537047	30537047	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30537047C>T	ENST00000380412.5	-	2	589	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ZNF768_ENST00000562803.1_Silent_p.R107R	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	138	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCCAGGGCTCCGGGGTTCAT	0.507																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(412-414)cgG>cgA		zinc finger protein 768							55.0	60.0	58.0					16																	30537047		2197	4300	6497	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537047C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.414G>A	16.37:g.30537047C>T						ZNF768_ENST00000562803.1_Silent_p.R107R	p.R138R	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	589	-			138			Pro-rich.		Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.414G>A	CCDS10681.2																																																																																				0.507	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		120	493	0	0	0	1	0	120	493				
TLE6	79816	broad.mit.edu	37	19	2987962	2987962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2987962G>A	ENST00000246112.4	+	10	893	c.692G>A	c.(691-693)gGt>gAt	p.G231D	TLE6_ENST00000452088.1_Missense_Mutation_p.G108D|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	231					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGTTGGGGTGTGGTCCAG	0.667																																						ENST00000246112.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10						c.(691-693)gGt>gAt		transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)							33.0	32.0	32.0					19																	2987962		2203	4300	6503	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2987962G>A	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.692G>A	19.37:g.2987962G>A	ENSP00000246112:p.Gly231Asp					TLE6_ENST00000452088.1_Missense_Mutation_p.G108D|TLE6_ENST00000478073.2_3'UTR	p.G231D	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	893	+			108					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.692G>A	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208681	0.22205	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.19105	2.17;2.21	2.64	-5.2	0.02823	.	.	.	.	.	T	0.09992	0.0245	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.003;0.002;0.005	T	0.32693	-0.9897	9	0.34782	T	0.22	1.4638	0.8575	0.01186	0.455:0.1661:0.2125:0.1665	.	231;108;108	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	D	231;231;108;108	ENSP00000246112:G231D;ENSP00000406893:G108D	ENSP00000246112:G231D	G	+	2	0	TLE6	2938962	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.268000	0.08607	-1.113000	0.02981	0.449000	0.29647	GGT		0.667	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		12	112	0	0	0	1	0	12	112				
PEG3	5178	broad.mit.edu	37	19	57328491	57328491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328491G>A	ENST00000326441.9	-	10	1682	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	440					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGTGACTCGGTAAAGGAGGG	0.498																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1318-1320)aCc>aTc		paternally expressed 3							166.0	156.0	159.0					19																	57328491		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328491G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1319C>T	19.37:g.57328491G>A	ENSP00000326581:p.Thr440Ile					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I|PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|ZIM2_ENST00000599935.1_Intron	p.T440I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1682	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	440					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1319C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339049	0.11069	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02837	4.14;4.14	4.14	2.02	0.26589	.	0.972834	0.08419	N	0.948615	T	0.01592	0.0051	L	0.27053	0.805	.	.	.	B;B;P	0.46395	0.08;0.005;0.877	B;B;B	0.36030	0.027;0.005;0.216	T	0.12142	-1.0559	9	0.02654	T	1	-3.6534	2.948	0.05852	0.0984:0.1807:0.5344:0.1866	.	316;440;375	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	440;440;410	ENSP00000326581:T440I;ENSP00000403051:T440I	ENSP00000292074:T410I	T	-	2	0	ZIM2	62020303	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.686000	0.25392	0.714000	0.32081	-0.127000	0.14921	ACC		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			139	653	0	0	0	1	0	139	653				
NMUR1	10316	broad.mit.edu	37	2	232392906	232392906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232392906C>A	ENST00000305141.4	-	2	959	c.826G>T	c.(826-828)Gca>Tca	p.A276S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	276					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GACCTGGCTGCTGCAGAGCCC	0.637																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(826-828)Gca>Tca		neuromedin U receptor 1							43.0	42.0	42.0					2																	232392906		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232392906C>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.826G>T	2.37:g.232392906C>A	ENSP00000305877:p.Ala276Ser						p.A276S	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	959	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	276					O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.826G>T	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	C	1.751	-0.489353	0.04352	.	.	ENSG00000171596	ENST00000305141	T	0.34859	1.34	2.43	-2.21	0.06973	GPCR, rhodopsin-like superfamily (1);	485.990000	0.01751	U	0.029957	T	0.19927	0.0479	N	0.25992	0.78	0.09310	N	1	B	0.31949	0.348	B	0.27380	0.079	T	0.05632	-1.0873	10	0.09084	T	0.74	.	3.722	0.08460	0.0:0.2798:0.4085:0.3117	.	276	Q9HB89	NMUR1_HUMAN	S	276	ENSP00000305877:A276S	ENSP00000305877:A276S	A	-	1	0	NMUR1	232101150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.635000	0.24629	-0.320000	0.08640	-0.390000	0.06520	GCA		0.637	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		12	256	1	0	6.40141e-05	1	6.5221e-05	12	256				
CCDC91	55297	broad.mit.edu	37	12	28636989	28636989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28636989C>A	ENST00000545336.1	+	15	1525	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N|CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	369	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAACAGGAAACTGTTAAGGCA	0.398																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(1105-1107)aCt>aAt		coiled-coil domain containing 91							65.0	68.0	67.0					12																	28636989		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28636989C>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1106C>A	12.37:g.28636989C>A	ENSP00000438040:p.Thr369Asn					CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N|CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N	p.T369N			Q7Z6B0	CCD91_HUMAN			15	1525	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		369			Homodimerization.		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.1106C>A	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.554824|2.554824	0.45487|0.45487	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000542801|ENST00000536154;ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212	.|T;T;T;T;T;T;T	.|0.46819	.|1.43;0.99;1.43;1.43;0.99;1.42;0.86	5.83|5.83	3.69|3.69	0.42338|0.42338	.|.	.|0.199900	.|0.34906	.|N	.|0.003599	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.08118|0.08118	0|0	0.21579|0.21579	N|N	0.999638|0.999638	.|P;P;P	.|0.40794	.|0.514;0.729;0.729	.|B;P;P	.|0.45232	.|0.193;0.474;0.474	T|T	0.09930|0.09930	-1.0652|-1.0652	5|10	.|0.38643	.|T	.|0.18	-10.0404|-10.0404	8.9952|8.9952	0.36048|0.36048	0.0:0.8074:0.0:0.1926|0.0:0.8074:0.0:0.1926	.|.	.|333;369;339	.|Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.|.;CCD91_HUMAN;.	M|N	40|109;333;369;369;333;339;68	.|ENSP00000444440:T109N;ENSP00000440513:T333N;ENSP00000438040:T369N;ENSP00000370658:T369N;ENSP00000370655:T333N;ENSP00000305075:T339N;ENSP00000445999:T68N	.|ENSP00000305075:T339N	L|T	+|+	1|2	2|0	CCDC91|CCDC91	28528256|28528256	0.983000|0.983000	0.35010|0.35010	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.337000|1.337000	0.33862|0.33862	1.473000|1.473000	0.48159|0.48159	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.398	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		15	62	1	0	4.7546e-09	1	4.99022e-09	15	62				
C1orf111	284680	broad.mit.edu	37	1	162344026	162344026	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162344026T>G	ENST00000367935.5	-	3	677	c.598A>C	c.(598-600)Agc>Cgc	p.S200R	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	200										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TTGATGTGGCTCTTGAGGAAG	0.602																																						ENST00000367935.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(598-600)Agc>Cgc		chromosome 1 open reading frame 111							116.0	115.0	115.0					1																	162344026		2203	4300	6503	SO:0001583	missense	284680							g.chr1:162344026T>G	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.598A>C	1.37:g.162344026T>G	ENSP00000356912:p.Ser200Arg					RP11-565P22.6_ENST00000431696.1_Intron	p.S200R	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)		3	677	-	all_hematologic(112;0.15)		200					Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	c.598A>C	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646307	0.67358	.	.	ENSG00000171722	ENST00000367935	T	0.31510	1.49	5.14	4.02	0.46733	.	0.141394	0.50627	D	0.000109	T	0.31979	0.0814	M	0.72118	2.19	0.29686	N	0.84129	D	0.55385	0.971	P	0.58454	0.839	T	0.26780	-1.0093	9	0.46703	T	0.11	-30.4254	8.3206	0.32126	0.0:0.0907:0.0:0.9093	.	200	Q5T0L3	CA111_HUMAN	R	200	ENSP00000356912:S200R	ENSP00000356912:S200R	S	-	1	0	C1orf111	160610650	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.535000	0.36061	0.811000	0.34303	0.533000	0.62120	AGC		0.602	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		246	713	0	0	0	1	0	246	713				
PLXND1	23129	broad.mit.edu	37	3	129284287	129284287	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129284287C>T	ENST00000324093.4	-	25	4595	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1473T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1473					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCGGCCGAGGCGTCAATGAGG	0.592																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4417-4419)Gcc>Acc		plexin D1							111.0	95.0	100.0					3																	129284287		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284287C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4417G>A	3.37:g.129284287C>T	ENSP00000317128:p.Ala1473Thr					PLXND1_ENST00000324093.4_Missense_Mutation_p.A1473T	p.A1473T			Q9Y4D7	PLXD1_HUMAN			25	4595	-			1473					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4417G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885735	0.33255	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11712	2.75;2.75	4.96	4.96	0.65561	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.142434	0.46442	D	0.000293	T	0.19644	0.0472	L	0.36672	1.1	0.44807	D	0.997812	P;D	0.69078	0.572;0.997	B;P	0.59424	0.09;0.857	T	0.00443	-1.1736	10	0.72032	D	0.01	.	13.2338	0.59958	0.1589:0.8411:0.0:0.0	.	68;1473	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1473	ENSP00000317128:A1473T;ENSP00000376931:A1473T	ENSP00000317128:A1473T	A	-	1	0	PLXND1	130766977	0.996000	0.38824	1.000000	0.80357	0.132000	0.20833	3.060000	0.49955	2.294000	0.77228	0.561000	0.74099	GCC		0.592	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		78	325	0	0	0	1	0	78	325				
ZSCAN31	64288	broad.mit.edu	37	6	28297300	28297300	+	Missense_Mutation	SNP	C	C	T	rs150660211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28297300C>T	ENST00000414429.1	-	6	1064	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.R54Q			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	54	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGAGCTTCTCGGGGACCAGG	0.522																																						ENST00000414429.1																			0											c.(160-162)cGa>cAa		zinc finger and SCAN domain containing 31		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	126.0	121.0		161,161,161,161	1.9	0.0	6	dbSNP_134	121	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF323	NM_001135215.1,NM_001135216.1,NM_030899.4,NM_145909.2	43,43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/407,54/407,54/407,54/407	28297300	1,13005	2203	4300	6503	SO:0001583	missense	64288							g.chr6:28297300C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.161G>A	6.37:g.28297300C>T	ENSP00000390076:p.Arg54Gln					ZSCAN31_ENST00000396838.2_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.R54Q|ZSCAN31_ENST00000446474.1_Intron	p.R54Q							6	1064	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.161G>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466873	0.63625	2.27E-4	0.0	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036	T;T;T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	4.71	1.91	0.25777	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02649	0.0080	M	0.84773	2.715	0.09310	N	1	B	0.34226	0.443	B	0.22386	0.039	T	0.29852	-0.9998	9	0.42905	T	0.14	.	8.6922	0.34273	0.0:0.7386:0.0:0.2614	.	54	Q96LW9	ZN323_HUMAN	Q	54	ENSP00000380050:R54Q;ENSP00000413705:R54Q;ENSP00000390076:R54Q;ENSP00000345339:R54Q;ENSP00000389479:R54Q;ENSP00000412519:R54Q;ENSP00000416108:R54Q;ENSP00000406376:R54Q;ENSP00000411033:R54Q;ENSP00000416225:R54Q	ENSP00000345339:R54Q	R	-	2	0	ZNF323	28405279	0.000000	0.05858	0.005000	0.12908	0.990000	0.78478	0.023000	0.13533	0.524000	0.28502	-0.253000	0.11424	CGA		0.522	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		192	857	0	0	0	1	0	192	857				
PLCD4	84812	broad.mit.edu	37	2	219497008	219497008	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219497008G>A	ENST00000450993.2	+	10	1761	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	PLCD4_ENST00000417849.1_Silent_p.Q474Q|PLCD4_ENST00000432688.1_Silent_p.Q474Q|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	474					acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGGAGCAGAACCTTCAGA	0.478																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1420-1422)caG>caA		phospholipase C, delta 4							51.0	55.0	54.0					2																	219497008		1946	4150	6096	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219497008G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1422G>A	2.37:g.219497008G>A						PLCD4_ENST00000417849.1_Silent_p.Q474Q|PLCD4_ENST00000432688.1_Silent_p.Q474Q	p.Q474Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	1761	+		Renal(207;0.0915)	474					Q53FS8	Silent	SNP	ENST00000450993.2	37	c.1422G>A	CCDS46516.1																																																																																				0.478	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			31	61	0	0	0	1	0	31	61				
TEX29	121793	broad.mit.edu	37	13	111992248	111992248	+	Missense_Mutation	SNP	G	G	A	rs199521485		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111992248G>A	ENST00000283547.1	+	4	337	c.208G>A	c.(208-210)Gct>Act	p.A70T		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	70						integral component of membrane (GO:0016021)											TGTGATCATCGCTGGGGCCTT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		16749	0.001		0.0	False		,,,				2504	0.0					ENST00000283547.1																			0											c.(208-210)Gct>Act		testis expressed 29							247.0	226.0	233.0					13																	111992248		2203	4300	6503	SO:0001583	missense	121793					integral to membrane		g.chr13:111992248G>A	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.208G>A	13.37:g.111992248G>A	ENSP00000283547:p.Ala70Thr						p.A70T	NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN			4	337	+			70						Missense_Mutation	SNP	ENST00000283547.1	37	c.208G>A	CCDS9522.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.952	1.220466	0.22457	.	.	ENSG00000153495	ENST00000283547	.	.	.	4.09	0.877	0.19145	.	0.428883	0.17297	N	0.179417	T	0.15046	0.0363	N	0.20986	0.625	0.09310	N	1	P	0.50272	0.933	B	0.40864	0.342	T	0.10776	-1.0615	9	0.37606	T	0.19	-17.0228	2.0528	0.03574	0.1164:0.1713:0.4865:0.2257	.	70	Q8N6K0	CM016_HUMAN	T	70	.	ENSP00000283547:A70T	A	+	1	0	C13orf16	110790249	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.274000	0.18680	0.404000	0.25506	0.563000	0.77884	GCT		0.493	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		139	649	0	0	0	1	0	139	649				
MSX1	4487	broad.mit.edu	37	4	4864471	4864471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4864471G>A	ENST00000382723.4	+	2	747	c.513G>A	c.(511-513)acG>acA	p.T171T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	171					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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 negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACACAAGACGAACCGTAAGC	0.617																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(511-513)acG>acA		msh homeobox 1							61.0	77.0	72.0					4																	4864471		2198	4296	6494	SO:0001819	synonymous_variant	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864471G>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.513G>A	4.37:g.4864471G>A						MSX1_ENST00000468421.1_3'UTR	p.T171T	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	747	+			165					A0SZU5|A8K3M1|Q96NY4	Silent	SNP	ENST00000382723.4	37	c.513G>A	CCDS3378.2																																																																																				0.617	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			198	927	0	0	0	1	0	198	927				
GPER1	2852	broad.mit.edu	37	7	1131452	1131452	+	Missense_Mutation	SNP	G	G	A	rs201954771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131452G>A	ENST00000297469.3	+	2	779	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.E30K|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.E30K|GPER1_ENST00000401670.1_Missense_Mutation_p.E30K|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	30					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CACCTCCCCCGAGCTCAACCT	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15039	0.0		0.001	False		,,,				2504	0.0					ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(88-90)Gag>Aag					LYS/GLU,LYS/GLU,,,LYS/GLU,	0,4404		0,0,2202	45.0	44.0	44.0		88,88,,,88,	4.6	0.0	7		44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron,intron,missense,intron	GPER,C7orf50	NM_001039966.1,NM_001098201.1,NM_001134395.1,NM_001134396.1,NM_001505.2,NM_032350.5	56,56,,,56,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,,benign,	30/376,30/376,,,30/376,	1131452	1,13003	2202	4300	6502	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131452G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.88G>A	7.37:g.1131452G>A	ENSP00000297469:p.Glu30Lys					GPER_ENST00000297469.3_Missense_Mutation_p.E30K|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.E30K|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.E30K	p.E30K	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	972	+		Ovarian(82;0.0253)	30					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.88G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239351	0.39598	0.0	1.16E-4	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.67698	-0.28;0.86;-0.28;-0.28;-0.28	4.63	4.63	0.57726	.	0.400119	0.21712	N	0.070254	T	0.47525	0.1450	L	0.27053	0.805	0.09310	N	1	B	0.27416	0.178	B	0.17098	0.017	T	0.23440	-1.0188	10	0.13470	T	0.59	.	10.1473	0.42771	0.1044:0.0:0.8956:0.0	.	30	Q99527	GPER_HUMAN	K	30	ENSP00000385151:E30K;ENSP00000410487:E30K;ENSP00000380281:E30K;ENSP00000297469:E30K;ENSP00000380277:E30K	ENSP00000297469:E30K	E	+	1	0	GPER	1097978	0.092000	0.21681	0.003000	0.11579	0.003000	0.03518	1.538000	0.36094	2.144000	0.66660	0.655000	0.94253	GAG		0.672	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		44	294	0	0	0	1	0	44	294				
ZFYVE16	9765	broad.mit.edu	37	5	79739023	79739023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79739023C>T	ENST00000338008.5	+	5	2681	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	834					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTGTCCAGCCTCCTCAGGAG	0.408																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2500-2502)cCt>cTt		zinc finger, FYVE domain containing 16							112.0	103.0	106.0					5																	79739023		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79739023C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2501C>T	5.37:g.79739023C>T	ENSP00000337159:p.Pro834Leu					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L	p.P834L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	5	2681	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	834					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2501C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506311	0.26949	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49720	0.77;0.77;0.77	5.49	3.65	0.41850	.	0.232813	0.30356	N	0.009813	T	0.50531	0.1621	M	0.81497	2.545	0.58432	D	0.99999	B	0.23854	0.092	B	0.27262	0.078	T	0.56068	-0.8040	10	0.66056	D	0.02	-4.4467	10.7346	0.46117	0.0:0.7961:0.1318:0.0721	.	834	Q7Z3T8	ZFY16_HUMAN	L	834	ENSP00000337159:P834L;ENSP00000423663:P834L;ENSP00000426848:P834L	ENSP00000337159:P834L	P	+	2	0	ZFYVE16	79774779	1.000000	0.71417	0.841000	0.33234	0.009000	0.06853	3.530000	0.53539	1.334000	0.45468	0.650000	0.86243	CCT		0.408	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		39	296	0	0	0	1	0	39	296				
EZH2	2146	broad.mit.edu	37	7	148507481	148507481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148507481C>A	ENST00000460911.1	-	17	2046	c.1958G>T	c.(1957-1959)aGa>aTa	p.R653I	EZH2_ENST00000483967.1_Missense_Mutation_p.R644I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000320356.2_Missense_Mutation_p.R658I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	653	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTCCCTCTTCTGTCAGCTTC	0.398			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(1972-1974)aGa>aTa		enhancer of zeste homolog 2 (Drosophila)							90.0	78.0	82.0					7																	148507481		2202	4300	6502	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148507481C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1958G>T	7.37:g.148507481C>A	ENSP00000419711:p.Arg653Ile					EZH2_ENST00000460911.1_Missense_Mutation_p.R653I|EZH2_ENST00000483967.1_Missense_Mutation_p.R644I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I	p.R658I	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		17	2094	-	Melanoma(164;0.15)		653			SET.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1973G>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	33	5.285424	0.95517	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.81739	-1.53;-1.31;-1.31;-1.31;-1.53;-1.53;-1.31	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997	D	0.91099	0.4913	10	0.87932	D	0	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	644;602;653;614;658	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	I	602;658;653;614;602;602;644	ENSP00000417062:R602I;ENSP00000320147:R658I;ENSP00000419711:R653I;ENSP00000223193:R614I;ENSP00000443219:R602I;ENSP00000419050:R602I;ENSP00000419856:R644I	ENSP00000320147:R658I	R	-	2	0	EZH2	148138414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.574000	0.82434	2.550000	0.86006	0.655000	0.94253	AGA		0.398	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		40	207	1	0	2.95478e-19	1	3.29235e-19	40	207				
RPL3L	6123	broad.mit.edu	37	16	1995840	1995840	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1995840C>A	ENST00000268661.7	-	8	1137	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000564908.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	348					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCAACCTTTCTCAGCGTAAT	0.627																																						ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1042-1044)aGa>aTa		ribosomal protein L3-like							139.0	119.0	126.0					16																	1995840		2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1995840C>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.1043G>T	16.37:g.1995840C>A	ENSP00000268661:p.Arg348Ile						p.R348I	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			8	1137	-			348						Missense_Mutation	SNP	ENST00000268661.7	37	c.1043G>T	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751754	0.49362	.	.	ENSG00000140986	ENST00000268661	T	0.29917	1.55	4.25	3.3	0.37823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79453	-0.1797	10	0.87932	D	0	-35.042	11.1468	0.48434	0.0:0.9078:0.0:0.0922	.	348	Q92901	RL3L_HUMAN	I	348	ENSP00000268661:R348I	ENSP00000268661:R348I	R	-	2	0	RPL3L	1935841	0.977000	0.34250	0.996000	0.52242	0.003000	0.03518	7.383000	0.79741	1.125000	0.41998	-0.251000	0.11542	AGA		0.627	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		100	405	1	0	8.05857e-52	1	1.00114e-51	100	405				
C16orf87	388272	broad.mit.edu	37	16	46843515	46843515	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46843515C>T	ENST00000285697.4	-	3	607	c.346G>A	c.(346-348)Gag>Aag	p.E116K	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	116										large_intestine(4)|urinary_tract(1)	5						TTGTTCATACCTCTTTCTTCC	0.383																																						ENST00000285697.4																			0				large_intestine(4)|urinary_tract(1)	5						c.e3+1		chromosome 16 open reading frame 87							215.0	197.0	203.0					16																	46843515		2203	4300	6503	SO:0001630	splice_region_variant	388272							g.chr16:46843515C>T		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.346+1G>A	16.37:g.46843515C>T						C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	p.E116_splice	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN			3	607	-			116					Q63HN9	Splice_Site	SNP	ENST00000285697.4	37	c.346_splice	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177511	0.57692	.	.	ENSG00000155330	ENST00000285697	.	.	.	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25222	-1.0138	8	.	.	.	-6.9821	15.1206	0.72441	0.0:0.9316:0.0:0.0684	.	116	Q6PH81	CP087_HUMAN	K	116	.	.	E	-	1	0	C16orf87	45401016	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.943000	0.75934	1.541000	0.49316	0.585000	0.79938	GAG		0.383	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436	Missense_Mutation	86	847	0	0	0	1	0	86	847				
HTR7	3363	broad.mit.edu	37	10	92509222	92509222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92509222C>A	ENST00000336152.3	-	2	695	c.669G>T	c.(667-669)caG>caT	p.Q223H	HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H|HTR7_ENST00000371721.3_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	223					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CATTTACATTCTGAGCCCATC	0.483																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(667-669)caG>caT		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						99.0	104.0	102.0					10																	92509222		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509222C>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.669G>T	10.37:g.92509222C>A	ENSP00000337949:p.Gln223His					HTR7_ENST00000336152.3_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H|HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H	p.Q223H			P34969	5HT7R_HUMAN			2	911	-			223					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.669G>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928757	0.34002	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.056782	0.64402	D	0.000001	T	0.25158	0.0611	L	0.27053	0.805	0.52099	D	0.999947	B;B	0.31209	0.313;0.044	B;B	0.26614	0.071;0.064	T	0.04650	-1.0936	10	0.45353	T	0.12	.	12.026	0.53371	0.0:0.878:0.0:0.122	.	223;223	P34969;P34969-2	5HT7R_HUMAN;.	H	223	ENSP00000337949:Q223H;ENSP00000277874:Q223H;ENSP00000360784:Q223H;ENSP00000360786:Q223H	ENSP00000277874:Q223H	Q	-	3	2	HTR7	92499202	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.716000	0.61916	2.756000	0.94617	0.650000	0.86243	CAG		0.483	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		95	352	1	0	1.76565e-42	1	2.15003e-42	95	352				
ZNF628	89887	broad.mit.edu	37	19	55995070	55995070	+	Missense_Mutation	SNP	C	C	T	rs373922538		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995070C>T	ENST00000598519.1	+	3	3063	c.2510C>T	c.(2509-2511)gCg>gTg	p.A837V	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A833V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	837	4 X approximate tandem repeats.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCCAGCCAGCGCAGGAGGTG	0.657																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2497-2499)gCg>gTg		zinc finger protein 628			VAL/ALA	0,4406		0,0,2203	52.0	61.0	58.0		2498	2.9	0.8	19		58	1,8599		0,1,4299	no	missense	ZNF628	NM_033113.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	833/1056	55995070	1,13005	2203	4300	6503	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995070C>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2510C>T	19.37:g.55995070C>T	ENSP00000469591:p.Ala837Val					ZNF628_ENST00000598519.1_Missense_Mutation_p.A837V	p.A833V			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3063	+	Breast(117;0.155)		833			4 X approximate tandem repeats.		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.2498C>T	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046309	0.36085	0.0	1.16E-4	ENSG00000197483	ENST00000391718	T	0.09445	2.98	2.92	2.92	0.33932	.	.	.	.	.	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B	0.31125	0.309	B	0.23852	0.049	T	0.25950	-1.0117	9	0.87932	D	0	.	9.4682	0.38826	0.0:1.0:0.0:0.0	.	833	Q5EBL2	ZN628_HUMAN	V	833	ENSP00000375598:A833V	ENSP00000375598:A833V	A	+	2	0	ZNF628	60686882	0.359000	0.24955	0.776000	0.31678	0.778000	0.44026	1.175000	0.31944	1.638000	0.50547	0.450000	0.29827	GCG		0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		113	373	0	0	0	1	0	113	373				
PSMB5	5693	broad.mit.edu	37	14	23502760	23502760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23502760C>T	ENST00000361611.6	-	2	585	c.322G>A	c.(322-324)Gca>Aca	p.A108T	PSMB5_ENST00000460922.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	108					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.A108T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CAATCCGCTGCGCCCCCAGCC	0.552																																						ENST00000361611.6																			1	Substitution - Missense(1)	p.A108T(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7						c.(322-324)Gca>Aca		proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)						67.0	63.0	65.0					14																	23502760		2203	4300	6503	SO:0001583	missense	5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23502760C>T	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.322G>A	14.37:g.23502760C>T	ENSP00000355325:p.Ala108Thr					PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|PSMB5_ENST00000460922.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T	p.A108T	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	2	585	-	all_cancers(95;3.3e-05)		108					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	c.322G>A	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749066	0.89753	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000425762	T;T;T	0.36699	1.24;1.24;1.24	4.88	4.88	0.63580	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.99590	4.645	0.80722	D	1	P;D	0.76494	0.92;0.999	B;P	0.62014	0.109;0.897	D	0.87643	0.2523	10	0.87932	D	0	-1.9348	16.8115	0.85722	0.0:1.0:0.0:0.0	.	108;108	P28074-2;P28074	.;PSB5_HUMAN	T	108;108;5	ENSP00000355325:A108T;ENSP00000452424:A108T;ENSP00000395206:A5T	ENSP00000334973:A108T	A	-	1	0	PSMB5	22572600	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.476000	0.60216	2.237000	0.73441	0.561000	0.74099	GCA		0.552	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		37	282	0	0	0	1	0	37	282				
TNFRSF11A	8792	broad.mit.edu	37	18	60029018	60029018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60029018C>T	ENST00000586569.1	+	7	760	c.722C>T	c.(721-723)gCa>gTa	p.A241V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	241					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AAAGGGAAAGCACTCACAGGT	0.418																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(721-723)gCa>gTa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							155.0	144.0	148.0					18																	60029018		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60029018C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.722C>T	18.37:g.60029018C>T	ENSP00000465500:p.Ala241Val					TNFRSF11A_ENST00000269485.7_Intron	p.A241V	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			7	760	+		Colorectal(73;0.188)	241					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.722C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109338	0.20714	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.66	2.56	0.30785	.	0.809251	0.11152	N	0.594005	T	0.33614	0.0869	L	0.53249	1.67	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.25537	-1.0129	8	.	.	.	-0.9648	4.5426	0.12066	0.1507:0.566:0.0:0.2833	.	241	Q9Y6Q6	TNR11_HUMAN	V	241	.	.	A	+	2	0	TNFRSF11A	58179998	0.004000	0.15560	0.223000	0.23860	0.756000	0.42949	0.345000	0.19979	0.677000	0.31305	-0.136000	0.14681	GCA		0.418	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			156	721	0	0	0	1	0	156	721				
TRPM3	80036	broad.mit.edu	37	9	73230953	73230953	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73230953G>T	ENST00000377111.2	-	17	2604	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000377110.3_Missense_Mutation_p.S787R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	812					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAACTCCAAGCTGAGAATTG	0.398																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2359-2361)agC>agA		transient receptor potential cation channel, subfamily M, member 3							101.0	92.0	95.0					9																	73230953		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73230953G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2361C>A	9.37:g.73230953G>T	ENSP00000366315:p.Ser787Arg					TRPM3_ENST00000377111.2_Missense_Mutation_p.S787R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R	p.S787R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			17	2604	-			812					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2361C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.569346|1.569346	0.28003|0.28003	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.087739	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.08118|0.08118	0|0	0.42438|0.42438	D|D	0.992706|0.992706	.|B;B;P;B;B;B;B;P	.|0.40266	.|0.008;0.001;0.565;0.101;0.101;0.404;0.003;0.71	.|B;B;P;B;B;B;B;B	.|0.50490	.|0.026;0.005;0.642;0.122;0.078;0.109;0.015;0.193	T|T	0.52253|0.52253	-0.8600|-0.8600	5|10	.|0.19147	.|T	.|0.46	-23.5504|-23.5504	19.6745|19.6745	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|787;787;777;791;649;646;759;634	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	I|R	636|787;787;659;649;646;791;646;634;659;649;814	.|ENSP00000366315:S787R;ENSP00000366314:S787R;ENSP00000366310:S659R;ENSP00000354066:S649R;ENSP00000366309:S646R;ENSP00000350140:S791R;ENSP00000386127:S646R;ENSP00000379581:S634R;ENSP00000379587:S659R;ENSP00000350791:S649R;ENSP00000389542:S814R	.|ENSP00000350140:S791R	L|S	-|-	1|3	0|2	TRPM3|TRPM3	72420773|72420773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.250000|2.250000	0.43178|0.43178	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTT|AGC		0.398	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		34	179	1	0	6.50621e-10	1	6.87419e-10	34	179				
GDF9	2661	broad.mit.edu	37	5	132197621	132197621	+	Missense_Mutation	SNP	T	T	C	rs182590484		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132197621T>C	ENST00000378673.2	-	3	1891	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C			O60383	GDF9_HUMAN	growth differentiation factor 9	342					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTCTGAAGTATTCACTCAG	0.483																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(1024-1026)tAc>tGc		growth differentiation factor 9							67.0	70.0	69.0					5																	132197621		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132197621T>C		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1025A>G	5.37:g.132197621T>C	ENSP00000367942:p.Tyr342Cys					GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C	p.Y342C			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1891	-		all_cancers(142;0.105)|Breast(839;0.198)	342					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.1025A>G	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319266	0.60524	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.81163	-1.46;-1.46	6.13	6.13	0.99165	Transforming growth factor-beta, C-terminal (1);	0.122391	0.56097	D	0.000021	D	0.90672	0.7074	M	0.86178	2.8	0.51012	D	0.999901	D	0.89917	1.0	D	0.77557	0.99	D	0.91699	0.5372	10	0.66056	D	0.02	.	16.4513	0.83991	0.0:0.0:0.0:1.0	.	342	O60383	GDF9_HUMAN	C	342	ENSP00000367942:Y342C;ENSP00000296875:Y342C	ENSP00000296875:Y342C	Y	-	2	0	GDF9	132225520	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	5.434000	0.66526	2.364000	0.80123	0.524000	0.50904	TAC		0.483	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		70	323	0	0	0	1	0	70	323				
KBTBD8	84541	broad.mit.edu	37	3	67054530	67054530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67054530G>T	ENST00000417314.2	+	3	1188	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R354I|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	380						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTTCGAGCCAGAATAGGCTGC	0.433																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1060-1062)aGa>aTa		kelch repeat and BTB (POZ) domain containing 8							139.0	133.0	135.0					3																	67054530		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67054530G>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1139G>T	3.37:g.67054530G>T	ENSP00000401878:p.Arg380Ile					KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.R380I	p.R354I	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1192	+		Lung NSC(201;0.0765)	380					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1061G>T	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530339	0.85706	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.79352	-1.26;-1.26	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.043526	0.85682	D	0.000000	D	0.91088	0.7195	H	0.96269	3.795	0.80722	D	1	D	0.53462	0.96	P	0.57776	0.827	D	0.93569	0.6902	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	380	Q8NFY9	KBTB8_HUMAN	I	354;380	ENSP00000295568:R354I;ENSP00000401878:R380I	.	R	+	2	0	KBTBD8	67137220	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.772000	0.98984	2.676000	0.91093	0.557000	0.71058	AGA		0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		114	476	1	0	1.76042e-48	1	2.17308e-48	114	476				
TOMM70A	9868	broad.mit.edu	37	3	100092477	100092477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100092477G>T	ENST00000284320.5	-	8	1688	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	414					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACTTGATCAAGGAGTATTTTC	0.358																																						ENST00000284320.5																			0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(1240-1242)Ctt>Att		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							109.0	105.0	106.0					3																	100092477		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100092477G>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1240C>A	3.37:g.100092477G>T	ENSP00000284320:p.Leu414Ile						p.L414I	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN			8	1688	-			414					D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1240C>A	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085829	0.76642	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.64991	-0.13	5.89	5.89	0.94794	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.76938	2.355	0.80722	D	1	P	0.51791	0.948	P	0.50570	0.644	T	0.74182	-0.3748	10	0.56958	D	0.05	-8.5736	13.4529	0.61182	0.0712:0.0:0.9288:0.0	.	414	O94826	TOM70_HUMAN	I	414;307	ENSP00000284320:L414I	ENSP00000284320:L414I	L	-	1	0	TOMM70A	101575167	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.954000	0.70298	2.783000	0.95769	0.655000	0.94253	CTT		0.358	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			63	290	1	0	2.01871e-26	1	2.32709e-26	63	290				
VAV1	7409	broad.mit.edu	37	19	6820720	6820720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6820720G>A	ENST00000602142.1	+	2	294	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y|VAV1_ENST00000304076.2_Missense_Mutation_p.C71Y|VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	71	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGTTCCTGTGCCTTAAGAAC	0.557																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(211-213)tGc>tAc		vav 1 guanine nucleotide exchange factor							151.0	131.0	138.0					19																	6820720		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6820720G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.212G>A	19.37:g.6820720G>A	ENSP00000472929:p.Cys71Tyr					VAV1_ENST00000602142.1_Missense_Mutation_p.C71Y|VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y|VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y	p.C71Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			2	306	+			71			CH.|Leu-rich.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.212G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860052	0.71834	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.42131	0.98;0.98	4.76	4.76	0.60689	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.996;1.0	T	0.67209	-0.5728	10	0.87932	D	0	.	15.256	0.73585	0.0:0.0:1.0:0.0	.	6;71;16;71	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	71;6	ENSP00000302269:C71Y;ENSP00000443242:C6Y	ENSP00000302269:C71Y	C	+	2	0	VAV1	6771720	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	9.410000	0.97335	2.212000	0.71576	0.484000	0.47621	TGC		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			132	444	0	0	0	1	0	132	444				
RYR1	6261	broad.mit.edu	37	19	39013945	39013945	+	Missense_Mutation	SNP	C	C	A	rs370080658		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39013945C>A	ENST00000359596.3	+	69	10436	c.10436C>A	c.(10435-10437)gCt>gAt	p.A3479D	RYR1_ENST00000355481.4_Missense_Mutation_p.A3479D|RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3479					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGCAAAATGGCTAAGGTCGGG	0.567																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(10435-10437)gCt>gAt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						130.0	111.0	118.0					19																	39013945		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39013945C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10436C>A	19.37:g.39013945C>A	ENSP00000352608:p.Ala3479Asp					RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D|RYR1_ENST00000359596.3_Missense_Mutation_p.A3479D	p.A3479D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		69	10567	+	all_cancers(60;7.91e-06)		3479					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10436C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301591	0.10678	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96885	-4.16;-4.14;-4.16	2.68	2.68	0.31781	.	0.330102	0.27147	U	0.020710	D	0.91327	0.7265	L	0.34521	1.04	0.37387	D	0.912296	P;P;B	0.36535	0.557;0.557;0.075	B;B;B	0.25140	0.058;0.058;0.023	D	0.92745	0.6211	10	0.62326	D	0.03	.	13.3384	0.60530	0.0:1.0:0.0:0.0	.	3479;3479;3479	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3479;3479;3479;399	ENSP00000352608:A3479D;ENSP00000347667:A3479D;ENSP00000354254:A3479D	ENSP00000347667:A3479D	A	+	2	0	RYR1	43705785	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	4.622000	0.61240	1.524000	0.49035	0.313000	0.20887	GCT		0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			31	663	1	0	5.91797e-21	1	6.65236e-21	31	663				
ARHGAP25	9938	broad.mit.edu	37	2	69002401	69002401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002401C>T	ENST00000295381.3	+	2	529	c.110C>T	c.(109-111)cCa>cTa	p.P37L	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P30L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P11L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P37L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P37L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	37					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P30Q(1)|p.P37Q(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCTTCCATCCATCGTCCACC	0.587																																						ENST00000295381.3																			2	Substitution - Missense(2)	p.P30Q(1)|p.P37Q(1)	lung(2)	breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(109-111)cCa>cTa		Rho GTPase activating protein 25							209.0	213.0	212.0					2																	69002401		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002401C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.110C>T	2.37:g.69002401C>T	ENSP00000295381:p.Pro37Leu					ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P37L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P37L|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P11L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P30L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P30L	p.P37L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			2	529	+			37					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.110C>T		.	.	.	.	.	.	.	.	.	.	C	7.076	0.569233	0.13560	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.58	-1.26	0.09376	.	0.906472	0.09590	N	0.781656	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0;0.001;0.001	T	0.44128	-0.9348	10	0.10377	T	0.69	.	2.1211	0.03726	0.2139:0.4204:0.0978:0.2679	.	37;11;37;30;30;30;37	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	L	11;37;37;37;30;30;30;30;30	ENSP00000439917:P11L;ENSP00000295381:P37L;ENSP00000386911:P37L;ENSP00000420583:P37L;ENSP00000386863:P30L;ENSP00000386241:P30L;ENSP00000417139:P30L	ENSP00000295381:P37L	P	+	2	0	ARHGAP25	68855905	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-1.469000	0.02348	-0.116000	0.11893	-0.253000	0.11424	CCA		0.587	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		27	1574	0	0	0	1	0	27	1574				
PKP4	8502	broad.mit.edu	37	2	159537009	159537009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159537009G>A	ENST00000389759.3	+	22	3511	c.3399G>A	c.(3397-3399)ttG>ttA	p.L1133L	PKP4_ENST00000389757.3_Silent_p.L1090L|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1133					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GATTGTATTTGCAGTCTCCTC	0.363										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(3268-3270)ttG>ttA		plakophilin 4							112.0	105.0	107.0					2																	159537009		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159537009G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3399G>A	2.37:g.159537009G>A		HNSCC(62;0.18)				AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.L1133L	p.L1090L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			21	3395	+			1133					Q86W91	Silent	SNP	ENST00000389759.3	37	c.3270G>A	CCDS33305.1																																																																																				0.363	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			146	424	0	0	0	1	0	146	424				
AFF2	2334	broad.mit.edu	37	X	148035155	148035155	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148035155C>T	ENST00000370460.2	+	10	1922	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	AFF2_ENST00000370457.5_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S|AFF2_ENST00000342251.3_Silent_p.S448S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	481					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGCCAGCGGGGGTTCTG	0.522																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1441-1443)agC>agT		AF4/FMR2 family, member 2							85.0	88.0	87.0					X																	148035155		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035155C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1443C>T	X.37:g.148035155C>T						AFF2_ENST00000342251.3_Silent_p.S448S|AFF2_ENST00000370457.5_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S	p.S481S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			10	1922	+	Acute lymphoblastic leukemia(192;6.56e-05)		481					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1443C>T	CCDS14684.1																																																																																				0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		84	682	0	0	0	1	0	84	682				
GABRE	2564	broad.mit.edu	37	X	151124015	151124015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151124015G>A	ENST00000370328.3	-	8	1015	c.962C>T	c.(961-963)aCc>aTc	p.T321I	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.T321I	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	321					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T321I(1)|p.T208I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCCAACGTGGTCATGGTCAG	0.498																																						ENST00000370325.1																			2	Substitution - Missense(2)	p.T321I(1)|p.T208I(1)	lung(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(961-963)aCc>aTc		gamma-aminobutyric acid (GABA) A receptor, epsilon							108.0	92.0	98.0					X																	151124015		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151124015G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.962C>T	X.37:g.151124015G>A	ENSP00000359353:p.Thr321Ile					GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.T321I	p.T321I			P78334	GBRE_HUMAN			8	1015	-	Acute lymphoblastic leukemia(192;6.56e-05)		321					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.962C>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793592	0.70452	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93763	-3.28;-3.28	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000020	D	0.94751	0.8306	L	0.41415	1.275	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.95260	0.8368	10	0.87932	D	0	.	16.4778	0.84137	0.0:0.0:1.0:0.0	.	321	P78334	GBRE_HUMAN	I	321	ENSP00000359353:T321I;ENSP00000359350:T321I	ENSP00000359350:T321I	T	-	2	0	GABRE	150874671	1.000000	0.71417	0.999000	0.59377	0.215000	0.24574	9.869000	0.99810	2.498000	0.84270	0.600000	0.82982	ACC		0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		83	257	0	0	0	1	0	83	257				
ZNF675	171392	broad.mit.edu	37	19	23837503	23837503	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23837503A>C	ENST00000359788.4	-	4	400	c.232T>G	c.(232-234)Tgt>Ggt	p.C78G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	78					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAATGAGAACACATTACTGAA	0.289																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(232-234)Tgt>Ggt		zinc finger protein 675							25.0	27.0	26.0					19																	23837503		2187	4272	6459	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837503A>C		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.232T>G	19.37:g.23837503A>C	ENSP00000352836:p.Cys78Gly					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.C78G	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	400	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	78					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.232T>G	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	5.278	0.236659	0.10023	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	.	.	.	.	.	T	0.10423	0.0255	M	0.76170	2.325	0.19575	N	0.999961	B	0.17667	0.023	B	0.20577	0.03	T	0.33163	-0.9879	8	0.25751	T	0.34	.	.	.	.	.	78	Q8TD23	ZN675_HUMAN	G	78	ENSP00000352836:C78G	ENSP00000352836:C78G	C	-	1	0	ZNF675	23629343	0.312000	0.24545	0.016000	0.15963	0.014000	0.08584	0.397000	0.20883	0.407000	0.25591	0.397000	0.26171	TGT		0.289	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		18	174	0	0	0	1	0	18	174				
VSTM1	284415	broad.mit.edu	37	19	54544247	54544247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544247C>A	ENST00000338372.2	-	9	854	c.679G>T	c.(679-681)Gga>Tga	p.G227*	VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*|VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	227					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCATGAGATCCTGGGGGCTCC	0.557																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(679-681)Gga>Tga		V-set and transmembrane domain containing 1							62.0	57.0	58.0					19																	54544247		2203	4300	6503	SO:0001587	stop_gained	284415					integral to membrane		g.chr19:54544247C>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.679G>T	19.37:g.54544247C>A	ENSP00000343366:p.Gly227*					VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*	p.G227*	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	854	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		227					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Nonsense_Mutation	SNP	ENST00000338372.2	37	c.679G>T	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006827	0.35415	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	.	.	.	2.63	0.503	0.16940	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.7657	0.13130	0.0:0.6976:0.0:0.3024	.	.	.	.	X	117;227;196;139	.	ENSP00000343366:G227X	G	-	1	0	VSTM1	59236059	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.748000	0.26305	0.222000	0.20900	-0.259000	0.10710	GGA		0.557	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		34	154	1	0	3.03874e-20	1	3.40186e-20	34	154				
THNSL2	55258	broad.mit.edu	37	2	88474333	88474333	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88474333G>A	ENST00000324166.5	+	2	2090	c.399G>A	c.(397-399)aaG>aaA	p.K133K	THNSL2_ENST00000402102.1_Silent_p.K133K|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Silent_p.K133K|THNSL2_ENST00000358591.2_Silent_p.K133K|THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000449349.1_Silent_p.K101K	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	133					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGAGGGAGAAGCACGTCACTG	0.512																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(397-399)aaG>aaA		threonine synthase-like 2 (S. cerevisiae)							176.0	137.0	150.0					2																	88474333		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88474333G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.399G>A	2.37:g.88474333G>A						THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000402102.1_Silent_p.K133K|THNSL2_ENST00000358591.2_Silent_p.K133K|THNSL2_ENST00000449349.1_Silent_p.K101K|THNSL2_ENST00000343544.4_Silent_p.K133K	p.K133K	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			2	2090	+			133					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.399G>A	CCDS2002.2																																																																																				0.512	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		102	326	0	0	0	1	0	102	326				
ZNF615	284370	broad.mit.edu	37	19	52496865	52496865	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496865A>C	ENST00000602063.1	-	6	1813	c.1464T>G	c.(1462-1464)gaT>gaG	p.D488E	ZNF615_ENST00000598071.1_Missense_Mutation_p.D499E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D499E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D493E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D488E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTTTCCACAATCATTGCATA	0.438																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1462-1464)gaT>gaG		zinc finger protein 615							91.0	78.0	82.0					19																	52496865		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496865A>C	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1464T>G	19.37:g.52496865A>C	ENSP00000473089:p.Asp488Glu					ZNF615_ENST00000391795.3_Missense_Mutation_p.D493E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D488E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D499E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D499E	p.D488E			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1813	-		all_neural(266;0.117)	488					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1464T>G	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	1.214	-0.628841	0.03610	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.35605	1.3;1.3	2.86	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.02345	-0.59	0.09310	N	0.999998	B;B;B;B	0.11235	0.004;0.003;0.003;0.004	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.26087	-1.0113	9	0.02654	T	1	.	0.3509	0.00349	0.228:0.2366:0.2801:0.2553	.	493;495;499;488	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	488;498;493;498	ENSP00000365906:D488E;ENSP00000375672:D493E	ENSP00000347019:D498E	D	-	3	2	ZNF615	57188677	0.000000	0.05858	0.152000	0.22495	0.878000	0.50629	-9.482000	0.00011	-1.000000	0.03438	0.402000	0.26972	GAT		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		64	207	0	0	0	1	0	64	207				
AMBN	258	broad.mit.edu	37	4	71472130	71472130	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71472130A>G	ENST00000322937.6	+	13	1130	c.1027A>G	c.(1027-1029)Aca>Gca	p.T343A	AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	343					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGCTTTCCTTACAGAGCTAGA	0.582																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1027-1029)Aca>Gca		ameloblastin (enamel matrix protein)							59.0	58.0	58.0					4																	71472130		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472130A>G	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1027A>G	4.37:g.71472130A>G	ENSP00000313809:p.Thr343Ala					AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	p.T343A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1130	+			343					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.1027A>G	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239752	0.10023	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.29917	1.55;1.55	5.7	-8.38	0.00973	.	0.853066	0.10180	N	0.705992	T	0.13286	0.0322	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.24541	0.054	T	0.26121	-1.0112	10	0.56958	D	0.05	1.0762	0.207	0.00152	0.3172:0.1473:0.2035:0.332	.	343	Q9NP70	AMBN_HUMAN	A	343;342;328	ENSP00000313809:T343A;ENSP00000391234:T328A	ENSP00000313809:T343A	T	+	1	0	AMBN	71506719	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-1.646000	0.01998	-2.229000	0.00720	-1.560000	0.00886	ACA		0.582	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		44	183	0	0	0	1	0	44	183				
CNOT1	23019	broad.mit.edu	37	16	58581543	58581543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58581543C>T	ENST00000317147.5	-	26	3898	c.3566G>A	c.(3565-3567)cGt>cAt	p.R1189H	CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184H|CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189H|CNOT1_ENST00000245138.4_Intron|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1189	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGCAAAGAACGATCTGAGAA	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(3565-3567)cGt>cAt		CCR4-NOT transcription complex, subunit 1							78.0	73.0	75.0					16																	58581543		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58581543C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3566G>A	16.37:g.58581543C>T	ENSP00000320949:p.Arg1189His					CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184H|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189H	p.R1189H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	26	3898	-			1189					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3566G>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545468	0.96488	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.19806	2.12;2.12	5.91	5.91	0.95273	.	0.048935	0.85682	D	0.000000	T	0.53400	0.1794	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;P;D	0.77004	0.989;0.664;0.94	T	0.57335	-0.7829	10	0.87932	D	0	.	18.4816	0.90813	0.0:1.0:0.0:0.0	.	1189;1189;1184	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1189;1184;1189	ENSP00000320949:R1189H;ENSP00000413113:R1189H	ENSP00000320949:R1189H	R	-	2	0	CNOT1	57139044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.804000	0.96469	0.650000	0.86243	CGT		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		8	217	0	0	0	1	0	8	217				
SVOP	55530	broad.mit.edu	37	12	109332674	109332674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109332674C>T	ENST00000299134.5	-	7	629	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						TTTAAGGTGGCGATTGCCTTT	0.547																																						ENST00000299134.5																			0				breast(2)|lung(4)	6						c.(628-630)tcG>tcA		SV2 related protein homolog (rat)							281.0	284.0	283.0					12																	109332674		2077	4207	6284	SO:0001819	synonymous_variant	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109332674C>T	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.630G>A	12.37:g.109332674C>T							p.S210S	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN			7	629	-			0					Q9NPW5	Silent	SNP	ENST00000299134.5	37	c.630G>A																																																																																					0.547	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		159	689	0	0	0	1	0	159	689				
CINP	51550	broad.mit.edu	37	14	102822114	102822114	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102822114C>T	ENST00000216756.6	-	3	337	c.297G>A	c.(295-297)ttG>ttA	p.L99L	CINP_ENST00000536961.2_Silent_p.L114L|CINP_ENST00000541568.2_Silent_p.L99L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	99					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						CCAACCCATCCAAGGTGGCCT	0.498																																						ENST00000216756.6																			0				large_intestine(2)|lung(2)	4						c.(295-297)ttG>ttA		cyclin-dependent kinase 2 interacting protein							218.0	166.0	184.0					14																	102822114		2203	4300	6503	SO:0001819	synonymous_variant	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102822114C>T	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.297G>A	14.37:g.102822114C>T						CINP_ENST00000541568.2_Silent_p.L99L|CINP_ENST00000536961.2_Silent_p.L114L	p.L99L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN			3	337	-			99					F5H7P3|F5H8A7|Q9NPF9	Silent	SNP	ENST00000216756.6	37	c.297G>A	CCDS9972.1																																																																																				0.498	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		92	406	0	0	0	1	0	92	406				
UBTF	7343	broad.mit.edu	37	17	42287719	42287719	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42287719C>A	ENST00000302904.4	-	14	1974	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	UBTF_ENST00000343638.5_Missense_Mutation_p.Q457H|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000393606.3_Missense_Mutation_p.Q457H|UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	494					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGATAACGCTCTGTTGCCAGA	0.652											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1480-1482)caG>caT		upstream binding transcription factor, RNA polymerase I							80.0	77.0	78.0					17																	42287719		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42287719C>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1482G>T	17.37:g.42287719C>A	ENSP00000302640:p.Gln494His		OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	907	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H|UBTF_ENST00000393606.3_Missense_Mutation_p.Q457H|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H|UBTF_ENST00000343638.5_Missense_Mutation_p.Q457H	p.Q494H			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	14	1974	-		Breast(137;0.00765)|Prostate(33;0.0181)	494					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.1482G>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	15.89	2.965453	0.53507	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;T	0.98221	-4.76;-4.03;-4.8;-4.76;-4.03;-4.76;-4.76;-4.03;1.93	4.61	3.59	0.41128	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	N	0.19112	0.55	0.53688	D	0.999979	P;D;B	0.71674	0.476;0.998;0.379	B;D;B	0.65233	0.086;0.933;0.162	D	0.95584	0.8649	10	0.56958	D	0.05	-35.517	9.1917	0.37204	0.0:0.7686:0.1485:0.0829	.	457;457;494	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	H	457;494;457;457;494;457;457;494;81	ENSP00000345297:Q457H;ENSP00000302640:Q494H;ENSP00000431539:Q457H;ENSP00000437180:Q457H;ENSP00000390669:Q494H;ENSP00000377231:Q457H;ENSP00000432925:Q457H;ENSP00000435708:Q494H;ENSP00000431295:Q81H	ENSP00000302640:Q494H	Q	-	3	2	UBTF	39643245	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.868000	0.56055	2.392000	0.81423	0.467000	0.42956	CAG		0.652	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		13	550	1	0	0.000308642	1	0.000312942	13	550				
TNIK	23043	broad.mit.edu	37	3	170858289	170858289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170858289G>A	ENST00000436636.2	-	13	1575	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	411	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTTCTCTCGCCTTTGTTGC	0.622																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1231-1233)Cga>Tga		TRAF2 and NCK interacting kinase							70.0	75.0	74.0					3																	170858289		2005	4163	6168	SO:0001587	stop_gained	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170858289G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1231C>T	3.37:g.170858289G>A	ENSP00000399511:p.Arg411*					TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*	p.R411*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		13	1575	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		411			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	c.1231C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142123	0.77775	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	5.55	1.01	0.19927	.	0.062787	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2317	0.43258	0.0:0.0959:0.3853:0.5188	.	.	.	.	X	411	.	ENSP00000284483:R411X	R	-	1	2	TNIK	172340983	0.996000	0.38824	0.942000	0.38095	0.233000	0.25261	1.042000	0.30303	0.243000	0.21327	-0.182000	0.12963	CGA		0.622	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		60	702	0	0	0	1	0	60	702				
NUP205	23165	broad.mit.edu	37	7	135292055	135292055	+	Missense_Mutation	SNP	C	C	T	rs540996642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1044					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGAAAGGAACGGAAGGGAGA	0.463																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3130-3132)aCg>aTg		nucleoporin 205kDa							99.0	94.0	96.0					7																	135292055		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135292055C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3131C>T	7.37:g.135292055C>T	ENSP00000285968:p.Thr1044Met						p.T1044M	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			22	3157	+			1044					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3131C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966911	0.74131	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.15	5.15	0.70609	.	0.047461	0.85682	D	0.000000	T	0.40423	0.1116	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.55545	0.778	T	0.14337	-1.0476	10	0.46703	T	0.11	-10.5056	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1044	Q92621	NU205_HUMAN	M	1044	ENSP00000285968:T1044M	ENSP00000285968:T1044M	T	+	2	0	NUP205	134942595	0.999000	0.42202	0.784000	0.31847	0.898000	0.52572	3.793000	0.55484	2.550000	0.86006	0.561000	0.74099	ACG		0.463	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			33	323	0	0	0	1	0	33	323				
CACNA1B	774	broad.mit.edu	37	9	141015943	141015943	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141015943G>T	ENST00000371372.1	+	47	6657	c.6512G>T	c.(6511-6513)aGc>aTc	p.S2171I	CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1365I|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2171					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAATGGGAGCCCCTTGCTG	0.557																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4093-4095)aGc>aTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						39.0	43.0	41.0					9																	141015943		1921	4114	6035	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141015943G>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6512G>T	9.37:g.141015943G>T	ENSP00000360423:p.Ser2171Ile					CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S2171I|CACNA1B_ENST00000277551.2_Intron	p.S1365I			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6663	+	all_cancers(76;0.166)		2171				Calcium ion selectivity and permeability (By similarity).	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4094G>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936637	0.73442	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98567	-4.71;-5.0;-4.72;-4.71;-4.69	5.0	5.0	0.66597	.	0.124902	0.52532	D	0.000068	D	0.98482	0.9494	M	0.79258	2.445	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.54629	0.757;0.757	D	0.99640	1.0988	10	0.72032	D	0.01	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2170;2169	B1AQK7;B1AQK6	.;.	I	2171;1365;2169;2170;2172	ENSP00000360423:S2171I;ENSP00000277549:S1365I;ENSP00000360414:S2169I;ENSP00000360408:S2170I;ENSP00000360406:S2172I	ENSP00000277549:S1365I	S	+	2	0	CACNA1B	140135764	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.927000	0.92846	2.319000	0.78375	0.561000	0.74099	AGC		0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		54	227	1	0	7.92265e-33	1	9.37054e-33	54	227				
TRMT11	60487	broad.mit.edu	37	6	126319743	126319743	+	Silent	SNP	G	G	A	rs186317882		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126319743G>A	ENST00000334379.5	+	6	556	c.435G>A	c.(433-435)ccG>ccA	p.P145P	TRMT11_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_Silent_p.P145P	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	145					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.P145P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TAAAGAAACCGCAACATGTAT	0.318																																						ENST00000334379.5																			1	Substitution - coding silent(1)	p.P145P(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(433-435)ccG>ccA		tRNA methyltransferase 11 homolog (S. cerevisiae)							93.0	93.0	93.0					6																	126319743		2203	4300	6503	SO:0001819	synonymous_variant	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126319743G>A	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.435G>A	6.37:g.126319743G>A						TRMT11_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_Silent_p.P145P	p.P145P	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	6	556	+			145					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	c.435G>A	CCDS35496.1																																																																																				0.318	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		8	374	0	0	0	1	0	8	374				
CLEC12A	160364	broad.mit.edu	37	12	10134657	10134657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10134657G>A	ENST00000304361.4	+	5	752	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	190	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ATGACTATTGGCTGGGATTAT	0.338																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(568-570)tgG>tgA		C-type lectin domain family 12, member A							63.0	63.0	63.0					12																	10134657		2203	4300	6503	SO:0001587	stop_gained	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10134657G>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.570G>A	12.37:g.10134657G>A	ENSP00000302804:p.Trp190*					CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*|CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*	p.W190*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			5	752	+			190			C-type lectin.		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Nonsense_Mutation	SNP	ENST00000304361.4	37	c.570G>A	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802655	0.31869	.	.	ENSG00000172322	ENST00000355690;ENST00000304361;ENST00000434319;ENST00000350667	.	.	.	4.31	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2605	0.31781	0.1068:0.0:0.8932:0.0	.	.	.	.	X	200;190;190;157	.	ENSP00000302804:W190X	W	+	3	0	CLEC12A	10025924	0.998000	0.40836	0.997000	0.53966	0.047000	0.14425	3.433000	0.52834	1.416000	0.47057	-0.136000	0.14681	TGG		0.338	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		24	126	0	0	0	1	0	24	126				
FEZF2	55079	broad.mit.edu	37	3	62357998	62357998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62357998C>T	ENST00000283268.3	-	2	840	c.546G>A	c.(544-546)ccG>ccA	p.P182P	FEZF2_ENST00000475839.1_Silent_p.P182P|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Silent_p.P182P	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	182					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGAGCTCAGACGGCGGGTACG	0.662																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(544-546)ccG>ccA		FEZ family zinc finger 2							17.0	23.0	21.0					3																	62357998		2200	4292	6492	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62357998C>T	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.546G>A	3.37:g.62357998C>T						FEZF2_ENST00000475839.1_Silent_p.P182P|FEZF2_ENST00000486811.1_Silent_p.P182P	p.P182P	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	2	840	-		Lung SC(41;0.0262)	182					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.546G>A	CCDS2897.1																																																																																				0.662	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		22	94	0	0	0	1	0	22	94				
DUSP15	128853	broad.mit.edu	37	20	30436230	30436230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30436230C>T	ENST00000278979.3	-	10	941	c.865G>A	c.(865-867)Gct>Act	p.A289T	FOXS1_ENST00000375978.3_5'Flank			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	289					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGAGGAAGCGGCTCGCTTA	0.622																																						ENST00000278979.3																			0				large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7						c.(865-867)Gct>Act		dual specificity phosphatase 15							46.0	45.0	46.0					20																	30436230		876	1991	2867	SO:0001583	missense	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30436230C>T		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.865G>A	20.37:g.30436230C>T	ENSP00000278979:p.Ala289Thr						p.A289T			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		10	941	-			289					A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	C	6.441	0.449474	0.12223	.	.	ENSG00000149599	ENST00000278979	T	0.05447	3.44	3.47	-3.16	0.05217	.	1304.840000	0.00447	N	0.000094	T	0.05410	0.0143	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42207	-0.9465	9	0.87932	D	0	.	4.7351	0.12984	0.1503:0.5149:0.0:0.3348	.	289	Q9H1R2	DUS15_HUMAN	T	289	ENSP00000278979:A289T	ENSP00000278979:A289T	A	-	1	0	DUSP15	29899891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.937000	0.00330	-0.779000	0.04560	-1.327000	0.01280	GCT		0.622	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		31	188	0	0	0	1	0	31	188				
GPR108	56927	broad.mit.edu	37	19	6733205	6733205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733205G>T	ENST00000264080.7	-	9	857	c.831C>A	c.(829-831)ttC>ttA	p.F277L	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Missense_Mutation_p.F35L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	277						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGGACACCCAGAAGATGCCAG	0.622																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(829-831)ttC>ttA		G protein-coupled receptor 108							59.0	69.0	65.0					19																	6733205		2132	4231	6363	SO:0001583	missense	56927					integral to membrane		g.chr19:6733205G>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.831C>A	19.37:g.6733205G>T	ENSP00000264080:p.Phe277Leu					GPR108_ENST00000430424.4_Missense_Mutation_p.F35L	p.F277L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			9	857	-			277					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.831C>A	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795685	0.31777	.	.	ENSG00000125734	ENST00000264080;ENST00000430424;ENST00000552585	T	0.19105	2.17	3.88	0.287	0.15714	.	0.226362	0.28036	U	0.016848	T	0.08846	0.0219	N	0.16368	0.405	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.21042	-1.0257	10	0.19147	T	0.46	-12.1953	2.8266	0.05487	0.3384:0.0:0.4603:0.2013	.	277	Q9NPR9	GP108_HUMAN	L	277;35;35	ENSP00000264080:F277L	ENSP00000264080:F277L	F	-	3	2	GPR108	6684205	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.852000	0.27764	0.419000	0.25927	0.561000	0.74099	TTC		0.622	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			95	425	1	0	7.59261e-44	1	9.28096e-44	95	425				
DTX4	23220	broad.mit.edu	37	11	58949753	58949753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58949753G>A	ENST00000227451.3	+	2	857	c.753G>A	c.(751-753)aaG>aaA	p.K251K	DTX4_ENST00000532982.1_Silent_p.K145K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	251					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCCACTGAAGACCGCCCCAT	0.642																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(751-753)aaG>aaA		deltex homolog 4 (Drosophila)							34.0	46.0	42.0					11																	58949753		2115	4241	6356	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949753G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.753G>A	11.37:g.58949753G>A						DTX4_ENST00000532982.1_Silent_p.K145K	p.K251K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			2	857	+		all_epithelial(135;0.125)	251					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.753G>A	CCDS44612.1																																																																																				0.642	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		31	98	0	0	0	1	0	31	98				
STOML2	30968	broad.mit.edu	37	9	35101137	35101137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101137G>A	ENST00000356493.5	-	7	781	c.719C>T	c.(718-720)gCa>gTa	p.A240V	RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Missense_Mutation_p.A195V	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	240					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGACCTGCTGCCTGATTTAT	0.557																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(718-720)gCa>gTa		stomatin (EPB72)-like 2							103.0	103.0	103.0					9																	35101137		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35101137G>A	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.719C>T	9.37:g.35101137G>A	ENSP00000348886:p.Ala240Val					STOML2_ENST00000452248.2_Missense_Mutation_p.A195V	p.A240V	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	781	-			240					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.719C>T	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006908	0.93287	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.99382	-4.06;-5.8	5.26	5.26	0.73747	.	0.051786	0.85682	D	0.000000	D	0.99645	0.9869	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.97737	1.0206	10	0.87932	D	0	-0.1484	19.0555	0.93062	0.0:0.0:1.0:0.0	.	195;240	B4E1K7;Q9UJZ1	.;STML2_HUMAN	V	240;195	ENSP00000348886:A240V;ENSP00000395743:A195V	ENSP00000348886:A240V	A	-	2	0	STOML2	35091137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.620000	0.98373	2.739000	0.93911	0.563000	0.77884	GCA		0.557	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		25	667	0	0	0	1	0	25	667				
CYP27A1	1593	broad.mit.edu	37	2	219679736	219679736	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219679736C>A	ENST00000258415.4	+	9	2006	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	527					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CCTGCAGTTCCTGCAGAGACA	0.592																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(1579-1581)Ctg>Atg		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						97.0	88.0	91.0					2																	219679736		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679736C>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1579C>A	2.37:g.219679736C>A	ENSP00000258415:p.Leu527Met						p.L527M	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	9	2006	+		Renal(207;0.0474)	527					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.1579C>A	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275684	0.59649	.	.	ENSG00000135929	ENST00000258415	T	0.69175	-0.38	4.39	4.39	0.52855	.	0.390354	0.25256	N	0.031985	T	0.60314	0.2259	N	0.08118	0	0.36027	D	0.839127	P	0.52692	0.955	P	0.58077	0.832	T	0.70142	-0.4953	10	0.49607	T	0.09	-10.1953	12.6347	0.56677	0.1767:0.8233:0.0:0.0	.	527	Q02318	CP27A_HUMAN	M	527	ENSP00000258415:L527M	ENSP00000258415:L527M	L	+	1	2	CYP27A1	219387980	0.949000	0.32298	0.995000	0.50966	0.835000	0.47333	0.080000	0.14802	2.365000	0.80145	0.655000	0.94253	CTG		0.592	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			7	330	1	0	0.0293803	1	0.0294705	7	330				
ZNF462	58499	broad.mit.edu	37	9	109694764	109694764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109694764C>T	ENST00000277225.5	+	5	6339	c.6050C>T	c.(6049-6051)gCc>gTc	p.A2017V	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2017					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTGGCCCTGGCCATGTTTACC	0.547																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6049-6051)gCc>gTc		zinc finger protein 462							138.0	101.0	114.0					9																	109694764		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109694764C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6050C>T	9.37:g.109694764C>T	ENSP00000277225:p.Ala2017Val					ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V|ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V	p.A2017V			Q96JM2	ZN462_HUMAN			5	6339	+			2017					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6050C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171487	0.78452	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05996	3.36;3.85;3.95;3.96	4.78	4.78	0.61160	.	0.062198	0.64402	D	0.000004	T	0.07098	0.0180	N	0.19112	0.55	0.80722	D	1	P;P	0.51057	0.921;0.941	P;P	0.46917	0.485;0.531	T	0.52132	-0.8616	10	0.15952	T	0.53	.	17.9881	0.89160	0.0:1.0:0.0:0.0	.	2077;2017	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	V	2017;2077;960;923	ENSP00000277225:A2017V;ENSP00000414570:A2077V;ENSP00000363818:A960V;ENSP00000397306:A923V	ENSP00000277225:A2017V	A	+	2	0	ZNF462	108734585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	2.488000	0.83962	0.591000	0.81541	GCC		0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		6	301	0	0	0	1	0	6	301				
C14orf37	145407	broad.mit.edu	37	14	58605508	58605508	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605508T>C	ENST00000267485.7	-	2	763	c.569A>G	c.(568-570)cAa>cGa	p.Q190R	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	190						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGCAAATGATTGATTATCCAT	0.393																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(568-570)cAa>cGa		chromosome 14 open reading frame 37							98.0	95.0	96.0					14																	58605508		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605508T>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.569A>G	14.37:g.58605508T>C	ENSP00000267485:p.Gln190Arg					C14orf37_ENST00000334342.5_5'UTR	p.Q190R	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	763	-			190					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.569A>G	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622137	0.46840	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34859	1.34	6.17	1.06	0.20224	.	0.540195	0.18131	N	0.150725	T	0.43656	0.1257	M	0.64997	1.995	0.09310	N	1	P;D;P;P	0.59767	0.919;0.986;0.919;0.919	P;P;P;P	0.55391	0.59;0.775;0.59;0.59	T	0.23547	-1.0185	10	0.40728	T	0.16	-0.4011	7.364	0.26762	0.0:0.081:0.4972:0.4217	.	228;190;190;190	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	R	190;228	ENSP00000267485:Q190R	ENSP00000267485:Q190R	Q	-	2	0	C14orf37	57675261	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.207000	0.17395	0.158000	0.19367	0.533000	0.62120	CAA		0.393	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		77	367	0	0	0	1	0	77	367				
NOS1AP	9722	broad.mit.edu	37	1	162324979	162324979	+	Missense_Mutation	SNP	C	C	T	rs370293556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162324979C>T	ENST00000361897.5	+	7	1000	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	200					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TCCTGCAGGCCGCCAGCTCAC	0.552																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(598-600)Cgc>Tgc		nitric oxide synthase 1 (neuronal) adaptor protein		C	CYS/ARG,CYS/ARG	3,4403	8.1+/-20.4	0,3,2200	56.0	57.0	57.0		583,598	4.5	1.0	1		57	0,8600		0,0,4300	no	missense,missense	NOS1AP	NM_001164757.1,NM_014697.2	180,180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	195/502,200/507	162324979	3,13003	2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162324979C>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.598C>T	1.37:g.162324979C>T	ENSP00000355133:p.Arg200Cys					NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	p.R200C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		7	1000	+	all_hematologic(112;0.203)		200					B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.598C>T	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718500	0.48622	6.81E-4	0.0	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78481	-1.18;-1.18	5.41	4.49	0.54785	.	0.258632	0.40144	N	0.001173	T	0.42314	0.1197	N	0.13003	0.285	.	.	.	B;B;B	0.23591	0.088;0.018;0.018	B;B;B	0.08055	0.003;0.003;0.003	T	0.39921	-0.9590	9	0.45353	T	0.12	.	7.3999	0.26958	0.0:0.8359:0.0:0.1641	.	195;195;200	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	C	195;200	ENSP00000431586:R195C;ENSP00000355133:R200C	ENSP00000355133:R200C	R	+	1	0	NOS1AP	160591603	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.114000	0.41911	2.523000	0.85059	0.655000	0.94253	CGC		0.552	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		80	457	0	0	0	1	0	80	457				
SLC30A1	7779	broad.mit.edu	37	1	211749594	211749594	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211749594T>C	ENST00000367001.4	-	2	789	c.660A>G	c.(658-660)gtA>gtG	p.V220V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	220					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CATTCACTTGTACTTCCACTG	0.368																																						ENST00000367001.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11						c.(658-660)gtA>gtG		solute carrier family 30 (zinc transporter), member 1							36.0	41.0	39.0					1																	211749594		2110	4069	6179	SO:0001819	synonymous_variant	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211749594T>C	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.660A>G	1.37:g.211749594T>C							p.V220V	NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	2	789	-			220					Q0VAK9|Q9BZF6	Silent	SNP	ENST00000367001.4	37	c.660A>G	CCDS1499.1																																																																																				0.368	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			62	261	0	0	0	1	0	62	261				
FBXO30	84085	broad.mit.edu	37	6	146126966	146126966	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146126966A>C	ENST00000237281.4	-	2	742	c.576T>G	c.(574-576)agT>agG	p.S192R		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	192							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CAGCAGCCAAACTTCTGGTTG	0.398																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(574-576)agT>agG		F-box protein 30							163.0	162.0	162.0					6																	146126966		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126966A>C	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.576T>G	6.37:g.146126966A>C	ENSP00000237281:p.Ser192Arg						p.S192R	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	742	-		Ovarian(120;0.0776)	192					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.576T>G	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649346	0.47362	.	.	ENSG00000118496	ENST00000237281	T	0.30448	1.53	5.82	4.63	0.57726	.	0.074325	0.85682	D	0.000000	T	0.35422	0.0931	L	0.58101	1.795	0.58432	D	0.999998	D	0.65815	0.995	P	0.62560	0.904	T	0.18681	-1.0329	10	0.54805	T	0.06	-23.7079	12.0806	0.53669	0.932:0.0:0.068:0.0	.	192	Q8TB52	FBX30_HUMAN	R	192	ENSP00000237281:S192R	ENSP00000237281:S192R	S	-	3	2	FBXO30	146168659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.953000	0.49105	0.984000	0.38629	0.482000	0.46254	AGT		0.398	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			15	911	0	0	0	1	0	15	911				
ALDH1L1	10840	broad.mit.edu	37	3	125873462	125873462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125873462C>T	ENST00000393434.2	-	6	1004	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A229T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	219					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGTGAATGGCCTCTGCCGGC	0.617																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(655-657)Gcc>Acc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						112.0	92.0	99.0					3																	125873462		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125873462C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.655G>A	3.37:g.125873462C>T	ENSP00000377083:p.Ala219Thr					ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A229T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118_splice|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T	p.A219T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	6	1004	-			219					B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.655G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185578	0.57909	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.77750	0.95;0.95;-1.12;0.95;0.95;0.95	4.64	3.76	0.43208	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.124005	0.52532	D	0.000065	T	0.68622	0.3021	L	0.51853	1.615	0.48452	D	0.999652	P;B;B;B;B	0.36959	0.575;0.345;0.037;0.401;0.037	B;B;B;B;B	0.33799	0.153;0.17;0.034;0.14;0.034	T	0.64521	-0.6388	10	0.22706	T	0.39	.	11.9136	0.52753	0.1752:0.8248:0.0:0.0	.	44;118;271;124;219	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	T	229;219;118;219;219;44	ENSP00000273450:A229T;ENSP00000420293:A219T;ENSP00000395881:A118T;ENSP00000377083:A219T;ENSP00000377081:A219T;ENSP00000414126:A44T	ENSP00000273450:A229T	A	-	1	0	ALDH1L1	127356152	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.263000	0.51546	1.148000	0.42385	0.591000	0.81541	GCC		0.617	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		86	351	0	0	0	1	0	86	351				
GCM1	8521	broad.mit.edu	37	6	53010408	53010408	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53010408G>T	ENST00000259803.7	-	2	234	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	U3_ENST00000516121.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	8					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTTGTCTTCAGAATCAAAGTC	0.413																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(22-24)tCt>tAt		glial cells missing homolog 1 (Drosophila)							132.0	125.0	127.0					6																	53010408		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:53010408G>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.23C>A	6.37:g.53010408G>T	ENSP00000259803:p.Ser8Tyr						p.S8Y	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			2	234	-	Lung NSC(77;0.0755)		8					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.23C>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034932	0.35893	.	.	ENSG00000137270	ENST00000259803	T	0.76186	-1.0	5.21	4.32	0.51571	.	0.394862	0.24115	N	0.041401	T	0.62405	0.2425	L	0.46157	1.445	0.09310	N	1	D	0.55385	0.971	P	0.52710	0.707	T	0.58515	-0.7623	10	0.62326	D	0.03	-6.206	7.9103	0.29787	0.0811:0.0:0.7584:0.1605	.	8	Q9NP62	GCM1_HUMAN	Y	8	ENSP00000259803:S8Y	ENSP00000259803:S8Y	S	-	2	0	GCM1	53118367	0.443000	0.25641	0.376000	0.26042	0.789000	0.44602	2.207000	0.42788	1.138000	0.42230	0.655000	0.94253	TCT		0.413	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			107	434	1	0	2.15005e-58	1	2.69688e-58	107	434				
FBXO5	26271	broad.mit.edu	37	6	153296625	153296625	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296625A>G	ENST00000229758.3	-	2	293	c.235T>C	c.(235-237)Ttg>Ctg	p.L79L	FBXO5_ENST00000367241.3_Silent_p.L33L|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GAACCTTCCAAATATGCAGGG	0.393																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(97-99)Ttg>Ctg		F-box protein 5							117.0	121.0	119.0					6																	153296625		2203	4300	6503	SO:0001819	synonymous_variant	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153296625A>G	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.235T>C	6.37:g.153296625A>G						FBXO5_ENST00000229758.3_Silent_p.L79L	p.L33L	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	2	477	-		Ovarian(120;0.125)	79					B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Silent	SNP	ENST00000229758.3	37	c.97T>C	CCDS5242.1																																																																																				0.393	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			16	502	0	0	0	1	0	16	502				
CD1B	910	broad.mit.edu	37	1	158299257	158299257	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299257G>A	ENST00000368168.3	-	4	896	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	263	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGGTTGCTCGGAGATACCATG	0.597																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(787-789)ctC>ctT		CD1b molecule							125.0	113.0	117.0					1																	158299257		2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299257G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.789C>T	1.37:g.158299257G>A							p.L263L	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			4	896	-	all_hematologic(112;0.0378)		263			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.789C>T	CCDS1176.1																																																																																				0.597	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		116	581	0	0	0	1	0	116	581				
TUBA3D	113457	broad.mit.edu	37	2	132237952	132237952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237952G>A	ENST00000321253.6	+	4	793	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	229					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AACCTCAATCGCCTGATTGGG	0.527																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(685-687)cGc>cAc		tubulin, alpha 3d							71.0	98.0	89.0					2																	132237952		2200	4299	6499	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237952G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.686G>A	2.37:g.132237952G>A	ENSP00000326042:p.Arg229His						p.R229H	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	793	+			229					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.686G>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	6.726	0.502690	0.12822	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.68331	-0.32	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.43416	U	0.000563	T	0.50956	0.1646	L	0.31664	0.95	0.43622	D	0.996002	P	0.35656	0.514	B	0.34093	0.175	T	0.57329	-0.7830	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	229	Q13748	TBA3C_HUMAN	H	229	ENSP00000326042:R229H	ENSP00000326042:R229H	R	+	2	0	TUBA3D	131954422	1.000000	0.71417	0.641000	0.29422	0.156000	0.22039	5.292000	0.65673	1.243000	0.43853	0.194000	0.17425	CGC		0.527	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		28	614	0	0	0	1	0	28	614				
MUC5B	727897	broad.mit.edu	37	11	1252652	1252652	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1252652G>A	ENST00000529681.1	+	14	1598		c.e14-1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCGGCAGCCAACATCAC	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.e14-1		mucin 5B, oligomeric mucus/gel-forming							31.0	35.0	34.0					11																	1252652		2044	4201	6245	SO:0001630	splice_region_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1252652G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1541-1G>A	11.37:g.1252652G>A						MUC5B_ENST00000529681.1_Splice_Site				Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	14	1607	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Splice_Site	SNP	ENST00000529681.1	37		CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673878	0.29693	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5066	0.75745	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC5B	1209228	1.000000	0.71417	0.882000	0.34594	0.119000	0.20118	8.723000	0.91458	1.614000	0.50241	0.462000	0.41574	.		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	Intron	25	92	0	0	0	1	0	25	92				
CDKL5	6792	broad.mit.edu	37	X	18671647	18671647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18671647G>A	ENST00000379989.3	+	22	3361	c.3076G>A	c.(3076-3078)Gca>Aca	p.A1026T	RS1_ENST00000476595.1_5'Flank|RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1026					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGAGAATGCGGCACTGACGGG	0.517																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(3076-3078)Gca>Aca		cyclin-dependent kinase-like 5							59.0	45.0	50.0					X																	18671647		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18671647G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.3076G>A	X.37:g.18671647G>A	ENSP00000369325:p.Ala1026Thr					RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T	p.A1026T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			22	3361	+	Hepatocellular(33;0.183)		1026					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.3076G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769422	0.49680	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71222	-0.55;-0.55	4.32	-0.897	0.10553	.	1.488660	0.04571	N	0.393227	T	0.48429	0.1499	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38351	-0.9665	10	0.87932	D	0	-0.0154	3.5465	0.07831	0.5001:0.0:0.3104:0.1895	.	1026	O76039	CDKL5_HUMAN	T	1026	ENSP00000369332:A1026T;ENSP00000369325:A1026T	ENSP00000369325:A1026T	A	+	1	0	CDKL5	18581568	0.364000	0.24997	0.000000	0.03702	0.001000	0.01503	0.673000	0.25203	-0.349000	0.08274	-0.191000	0.12829	GCA		0.517	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		31	103	0	0	0	1	0	31	103				
BAHCC1	57597	broad.mit.edu	37	17	79414740	79414740	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79414740C>A	ENST00000307745.7	+	15	3842	c.3842C>A	c.(3841-3843)cCt>cAt	p.P1281H																								CCACCGGACCCTCAGCCCCCA	0.692																																						ENST00000307745.7																			0											c.(3841-3843)cCt>cAt									12.0	15.0	14.0					17																	79414740		1988	4123	6111	SO:0001583	missense	0							g.chr17:79414740C>A																												ENST00000307745.7:c.3842C>A	17.37:g.79414740C>A	ENSP00000303486:p.Pro1281His						p.P1281H							15	3842	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.3842C>A		.	.	.	.	.	.	.	.	.	.	c	16.40	3.113320	0.56398	.	.	ENSG00000171282	ENST00000307745	T	0.26810	1.71	4.07	4.07	0.47477	.	0.544378	0.14999	U	0.286239	T	0.29458	0.0734	L	0.51422	1.61	0.09310	N	1	P;P	0.43094	0.697;0.799	B;P	0.44946	0.215;0.465	T	0.13282	-1.0515	10	0.87932	D	0	.	10.5621	0.45152	0.1934:0.8066:0.0:0.0	.	1281;1281	Q9P281;F8WBW8	BAHC1_HUMAN;.	H	1281	ENSP00000303486:P1281H	ENSP00000303486:P1281H	P	+	2	0	AC110285.1	77029335	0.020000	0.18652	0.016000	0.15963	0.126000	0.20510	1.127000	0.31357	2.079000	0.62486	0.457000	0.33378	CCT		0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				7	27	1	0	0.00198382	1	0.00200138	7	27				
AADACL2	344752	broad.mit.edu	37	3	151458616	151458616	+	Silent	SNP	G	G	A	rs144315490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151458616G>A	ENST00000356517.3	+	2	430	c.321G>A	c.(319-321)gtG>gtA	p.V107V		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	107						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGCGAGCTGTGATATATTTTC	0.353																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(319-321)gtG>gtA		arylacetamide deacetylase-like 2							136.0	143.0	141.0					3																	151458616		2203	4300	6503	SO:0001819	synonymous_variant	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151458616G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.321G>A	3.37:g.151458616G>A							p.V107V	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	430	+			107					Q5HYJ4	Silent	SNP	ENST00000356517.3	37	c.321G>A	CCDS3161.2																																																																																				0.353	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		76	341	0	0	0	1	0	76	341				
ZNF184	7738	broad.mit.edu	37	6	27420622	27420622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420622C>T	ENST00000211936.6	-	6	1000	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCTGATGGCGAATAAGAGC	0.353																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(715-717)cGc>cAc		zinc finger protein 184							140.0	143.0	142.0					6																	27420622		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420622C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.716G>A	6.37:g.27420622C>T	ENSP00000211936:p.Arg239His					ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	p.R239H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1000	-			239					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.716G>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	7.985	0.751986	0.15778	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.26810	1.71;1.71	5.12	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135982	0.34580	N	0.003854	T	0.05410	0.0143	L	0.58101	1.795	0.09310	N	1	P	0.36660	0.564	B	0.22152	0.038	T	0.23440	-1.0188	10	0.14252	T	0.57	.	3.5921	0.07993	0.163:0.433:0.3152:0.0888	.	239	Q99676	ZN184_HUMAN	H	239	ENSP00000211936:R239H;ENSP00000366636:R239H	ENSP00000211936:R239H	R	-	2	0	ZNF184	27528601	0.000000	0.05858	0.999000	0.59377	0.021000	0.10359	-1.898000	0.01602	1.366000	0.46076	-0.315000	0.08773	CGC		0.353	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		170	718	0	0	0	1	0	170	718				
RELN	5649	broad.mit.edu	37	7	103290811	103290811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103290811G>A	ENST00000428762.1	-	16	2071	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	RELN_ENST00000343529.5_Missense_Mutation_p.P638S|RELN_ENST00000424685.2_Missense_Mutation_p.P638S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	638					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAGGAAGGGGAATTGTTATT	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1912-1914)Ccc>Tcc		reelin							208.0	179.0	189.0					7																	103290811		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103290811G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1912C>T	7.37:g.103290811G>A	ENSP00000392423:p.Pro638Ser					RELN_ENST00000343529.5_Missense_Mutation_p.P638S|RELN_ENST00000424685.2_Missense_Mutation_p.P638S	p.P638S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	16	2071	-			638					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1912C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816746	0.90790	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	2.04;1.96;2.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.986	T	0.17410	-1.0370	10	0.59425	D	0.04	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	638;638	P78509-2;P78509	.;RELN_HUMAN	S	638	ENSP00000392423:P638S;ENSP00000345694:P638S;ENSP00000388446:P638S	ENSP00000345694:P638S	P	-	1	0	RELN	103078047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.894000	0.99253	0.591000	0.81541	CCC		0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	309	0	0	0	1	0	10	309				
TRAK1	22906	broad.mit.edu	37	3	42244300	42244300	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42244300C>T	ENST00000327628.5	+	13	2144				TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000449246.1_Silent_p.S526S|TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTTTGGTCCCTGATCCACC	0.637																																					GBM(44;195 884 22595 31865 41850)	ENST00000449246.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1576-1578)tcC>tcT		trafficking protein, kinesin binding 1																																				SO:0001627	intron_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42244300C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1744+56C>T	3.37:g.42244300C>T						TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron	p.S526S	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN			12	1879	+			0					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.1578C>T	CCDS43072.1																																																																																				0.637	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		35	120	0	0	0	1	0	35	120				
EI24	9538	broad.mit.edu	37	11	125445239	125445239	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125445239T>C	ENST00000278903.6	+	3	365	c.123T>C	c.(121-123)cgT>cgC	p.R41R	RNU6-1156P_ENST00000410365.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Silent_p.R41R|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	41	Poly-Arg.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGGAGCAGCGTCGAAGAAGGG	0.463																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(121-123)cgT>cgC		etoposide induced 2.4							68.0	70.0	69.0					11																	125445239		2016	4189	6205	SO:0001819	synonymous_variant	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125445239T>C	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.123T>C	11.37:g.125445239T>C						STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Silent_p.R41R	p.R41R	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	3	365	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	41			Poly-Arg.		A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	ENST00000278903.6	37	c.123T>C																																																																																					0.463	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		7	29	0	0	0	1	0	7	29				
SF3A2	8175	broad.mit.edu	37	19	2247848	2247848	+	Missense_Mutation	SNP	C	C	A	rs575076689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2247848C>A	ENST00000221494.5	+	9	1116	c.698C>A	c.(697-699)cCt>cAt	p.P233H	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	233	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGCGGCCTCCACCCCCG	0.677																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(697-699)cCt>cAt		splicing factor 3a, subunit 2, 66kDa																																				SO:0001583	missense	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2247848C>A	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.698C>A	19.37:g.2247848C>A	ENSP00000221494:p.Pro233His						p.P233H	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1116	+		Hepatocellular(1079;0.137)	233			Pro-rich.		B2RBU1|D6W605|O75245	Missense_Mutation	SNP	ENST00000221494.5	37	c.698C>A	CCDS12084.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724207	0.68959	.	.	ENSG00000104897	ENST00000221494	T	0.49720	0.77	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.73380	0.98	T	0.61821	-0.6984	10	0.59425	D	0.04	-13.467	16.1438	0.81548	0.0:1.0:0.0:0.0	.	233	Q15428	SF3A2_HUMAN	H	233	ENSP00000221494:P233H	ENSP00000221494:P233H	P	+	2	0	SF3A2	2198848	0.996000	0.38824	0.997000	0.53966	0.769000	0.43574	4.243000	0.58721	2.145000	0.66743	0.462000	0.41574	CCT		0.677	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			37	338	1	0	1.30998e-17	1	1.44773e-17	37	338				
OR51Q1	390061	broad.mit.edu	37	11	5443517	5443517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5443517C>T	ENST00000300778.4	+	1	177	c.87C>T	c.(85-87)atC>atT	p.I29I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGATCTCCATCCCCG	0.522																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(85-87)atC>atT		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							306.0	236.0	260.0					11																	5443517		2201	4297	6498	SO:0001819	synonymous_variant	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443517C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.87C>T	11.37:g.5443517C>T						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.I29I	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	177	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	29					B2RNN1	Silent	SNP	ENST00000300778.4	37	c.87C>T	CCDS31381.1																																																																																				0.522	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		30	836	0	0	0	1	0	30	836				
CDCA5	113130	broad.mit.edu	37	11	64847051	64847051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64847051G>A	ENST00000275517.3	-	5	624	c.452C>T	c.(451-453)aCc>aTc	p.T151I	CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	151					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGAGCCCAGGGTCTCCAGCCG	0.632																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(451-453)aCc>aTc		cell division cycle associated 5							31.0	34.0	33.0					11																	64847051		2201	4297	6498	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64847051G>A	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.452C>T	11.37:g.64847051G>A	ENSP00000275517:p.Thr151Ile					CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	p.T151I	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			5	624	-			151					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.452C>T	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959397	0.34565	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.45668	0.89;0.89	4.89	-2.52	0.06346	.	1.143710	0.06283	N	0.697788	T	0.44329	0.1288	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.39590	0.304	T	0.55101	-0.8193	10	0.59425	D	0.04	.	11.5239	0.50569	0.0:0.4348:0.4424:0.1228	.	151	Q96FF9	CDCA5_HUMAN	I	151	ENSP00000275517:T151I;ENSP00000385711:T151I	ENSP00000275517:T151I	T	-	2	0	CDCA5	64603627	0.058000	0.20735	0.000000	0.03702	0.356000	0.29392	0.335000	0.19806	-0.186000	0.10533	0.650000	0.86243	ACC		0.632	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		40	162	0	0	0	1	0	40	162				
SEMA4D	10507	broad.mit.edu	37	9	91996226	91996226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91996226G>A	ENST00000450295.1	-	14	2258	c.1482C>T	c.(1480-1482)ggC>ggT	p.G494G	SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G|SEMA4D_ENST00000420987.1_Silent_p.G494G|SEMA4D_ENST00000356444.2_Silent_p.G494G			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	494	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTGGACCACGCCCGAGTTAG	0.637																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1480-1482)ggC>ggT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							36.0	35.0	35.0					9																	91996226		2183	4275	6458	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91996226G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1482C>T	9.37:g.91996226G>A						SEMA4D_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000420987.1_Silent_p.G494G|SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000356444.2_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G	p.G494G			Q92854	SEM4D_HUMAN			14	2258	-			494			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.1482C>T	CCDS6685.1																																																																																				0.637	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		11	61	0	0	0	1	0	11	61				
CFAP70	118491	broad.mit.edu	37	10	75101334	75101334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75101334G>A	ENST00000310715.3	-	7	735	c.615C>T	c.(613-615)gaC>gaT	p.D205D	TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Silent_p.D205D	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		205						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAATGGGATAGTCCTTCTACA	0.408																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(613-615)gaC>gaT		tetratricopeptide repeat domain 18							52.0	55.0	54.0					10																	75101334		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75101334G>A																												ENST00000310715.3:c.615C>T	10.37:g.75101334G>A						TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000310715.3_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Silent_p.D205D	p.D205D			Q5T0N1	TTC18_HUMAN			7	735	-	Prostate(51;0.0119)		205					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.615C>T	CCDS7324.3																																																																																				0.408	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				49	234	0	0	0	1	0	49	234				
IL9	3578	broad.mit.edu	37	5	135231466	135231466	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135231466A>G	ENST00000274520.1	-	1	50	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	14					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCACGGAGCACAGGAGCAGG	0.577																																						ENST00000274520.1																			0				large_intestine(3)|lung(2)|pancreas(1)	6						c.(40-42)Tgc>Cgc		interleukin 9							57.0	62.0	61.0					5																	135231466		2203	4300	6503	SO:0001583	missense	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231466A>G	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.40T>C	5.37:g.135231466A>G	ENSP00000274520:p.Cys14Arg						p.C14R	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	50	-			14						Missense_Mutation	SNP	ENST00000274520.1	37	c.40T>C	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617588	0.46736	.	.	ENSG00000145839	ENST00000274520	T	0.45668	0.89	4.37	-1.44	0.08856	.	0.570981	0.14837	N	0.295519	T	0.36331	0.0963	L	0.46157	1.445	0.09310	N	0.999999	D	0.54964	0.969	P	0.49276	0.605	T	0.23368	-1.0190	10	0.59425	D	0.04	-1.8883	4.569	0.12200	0.3378:0.3355:0.0:0.3268	.	14	P15248	IL9_HUMAN	R	14	ENSP00000274520:C14R	ENSP00000274520:C14R	C	-	1	0	IL9	135259365	0.010000	0.17322	0.032000	0.17829	0.051000	0.14879	-0.075000	0.11431	-0.025000	0.13918	0.533000	0.62120	TGC		0.577	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		70	350	0	0	0	1	0	70	350				
TXNDC11	51061	broad.mit.edu	37	16	11785247	11785247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785247G>A	ENST00000356957.3	-	9	1987	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L	TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	627					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTGGAGCTCGGAGCACCCAG	0.438																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1879-1881)cCg>cTg		thioredoxin domain containing 11							133.0	130.0	131.0					16																	11785247		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785247G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1880C>T	16.37:g.11785247G>A	ENSP00000349439:p.Pro627Leu					TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L	p.P627L			Q6PKC3	TXD11_HUMAN			9	1987	-			627					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1880C>T		.	.	.	.	.	.	.	.	.	.	G	17.56	3.420081	0.62622	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.14266	2.74;2.52	5.81	5.81	0.92471	.	0.245095	0.42821	D	0.000651	T	0.12475	0.0303	L	0.34521	1.04	0.58432	D	0.999992	P;P	0.43519	0.491;0.809	B;B	0.35655	0.098;0.207	T	0.03221	-1.1059	10	0.38643	T	0.18	-22.9249	19.0707	0.93134	0.0:0.0:1.0:0.0	.	627;600	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	L	627;600	ENSP00000349439:P627L;ENSP00000283033:P600L	ENSP00000283033:P600L	P	-	2	0	TXNDC11	11692748	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	6.778000	0.75043	2.746000	0.94184	0.655000	0.94253	CCG		0.438	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		95	435	0	0	0	1	0	95	435				
FAR1	84188	broad.mit.edu	37	11	13743352	13743352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13743352G>T	ENST00000354817.3	+	10	1347	c.1203G>T	c.(1201-1203)tgG>tgT	p.W401C	FAR1_ENST00000532502.1_Missense_Mutation_p.W25C	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	401					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CTTGGGTTTGGAATACTGAGA	0.303																																						ENST00000532502.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(73-75)tgG>tgT		fatty acyl CoA reductase 1							80.0	79.0	79.0					11																	13743352		2197	4291	6488	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13743352G>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1203G>T	11.37:g.13743352G>T	ENSP00000346874:p.Trp401Cys					FAR1_ENST00000354817.3_Missense_Mutation_p.W401C	p.W25C			Q8WVX9	FACR1_HUMAN			1	1903	+			401					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.75G>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422520	0.83559	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.21932	1.98	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54370	-0.8304	10	0.87932	D	0	-3.4024	19.5966	0.95541	0.0:0.0:1.0:0.0	.	401	Q8WVX9	FACR1_HUMAN	C	401;25	ENSP00000346874:W401C	ENSP00000346874:W401C	W	+	3	0	FAR1	13699928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	TGG		0.303	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		33	115	1	0	6.00712e-18	1	6.65163e-18	33	115				
NUPL2	11097	broad.mit.edu	37	7	23236306	23236306	+	Missense_Mutation	SNP	C	C	A	rs535306272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23236306C>A	ENST00000258742.5	+	5	789	c.530C>A	c.(529-531)tCt>tAt	p.S177Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	177					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(529-531)tCt>tAt		nucleoporin like 2							82.0	83.0	83.0					7																	23236306		2203	4297	6500	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23236306C>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.530C>A	7.37:g.23236306C>A	ENSP00000258742:p.Ser177Tyr						p.S177Y	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			5	789	+			177					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.530C>A	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253795	0.59212	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.44482	0.92;0.92	5.63	4.75	0.60458	.	0.229608	0.45361	D	0.000362	T	0.58293	0.2112	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.55140	-0.8187	10	0.39692	T	0.17	-17.8451	12.7138	0.57103	0.0:0.9202:0.0:0.0798	.	177	O15504	NUPL2_HUMAN	Y	177	ENSP00000258742:S177Y;ENSP00000401475:S177Y	ENSP00000258742:S177Y	S	+	2	0	NUPL2	23202831	0.931000	0.31567	0.957000	0.39632	0.492000	0.33523	1.810000	0.38932	2.641000	0.89580	0.591000	0.81541	TCT		0.308	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		49	196	1	0	5.57489e-27	1	6.44243e-27	49	196				
SPSB1	80176	broad.mit.edu	37	1	9416645	9416645	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416645G>A	ENST00000328089.6	+	2	1035		c.e2+1		SPSB1_ENST00000357898.3_Splice_Site|SPSB1_ENST00000377399.2_Splice_Site	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTCGATCGTAAGTGTCTC	0.532																																						ENST00000328089.6																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.e2+1		splA/ryanodine receptor domain and SOCS box containing 1							66.0	66.0	66.0					1																	9416645		2203	4300	6503	SO:0001630	splice_region_variant	80176				intracellular signal transduction	cytoplasm		g.chr1:9416645G>A		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.694+1G>A	1.37:g.9416645G>A						SPSB1_ENST00000357898.3_Splice_Site|SPSB1_ENST00000377399.2_Splice_Site		NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	1035	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)						A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Splice_Site	SNP	ENST00000328089.6	37		CCDS102.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531086	0.64972	.	.	ENSG00000171621	ENST00000328089;ENST00000357898;ENST00000377399	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5733	0.87941	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPSB1	9339232	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.799000	0.99117	2.397000	0.81536	0.655000	0.94253	.		0.532	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106	Intron	14	259	0	0	0	1	0	14	259				
FARP2	9855	broad.mit.edu	37	2	242415374	242415374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242415374G>A	ENST00000264042.3	+	19	2404	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D	MIR3133_ENST00000583157.1_RNA	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	745					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GACCTGGTGGGCATAGAGAAC	0.498																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(2233-2235)gGc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							97.0	84.0	88.0					2																	242415374		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242415374G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2234G>A	2.37:g.242415374G>A	ENSP00000264042:p.Gly745Asp						p.G745D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	19	2404	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	745					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.2234G>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025654	0.75390	.	.	ENSG00000006607	ENST00000264042	T	0.51574	0.7	5.3	5.3	0.74995	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	18.9488	0.92632	0.0:0.0:1.0:0.0	.	745	O94887	FARP2_HUMAN	D	745	ENSP00000264042:G745D	ENSP00000264042:G745D	G	+	2	0	FARP2	242064047	1.000000	0.71417	0.629000	0.29254	0.404000	0.30871	9.081000	0.94049	2.485000	0.83878	0.563000	0.77884	GGC		0.498	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			33	202	0	0	0	1	0	33	202				
HMCN1	83872	broad.mit.edu	37	1	186097274	186097274	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186097274T>C	ENST00000271588.4	+	83	12984	c.12755T>C	c.(12754-12756)gTc>gCc	p.V4252A	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4252	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACACACTGTCAGCCTGACT	0.388																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12754-12756)gTc>gCc		hemicentin 1							128.0	114.0	119.0					1																	186097274		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186097274T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12755T>C	1.37:g.186097274T>C	ENSP00000271588:p.Val4252Ala					HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	p.V4252A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			83	12984	+			4252			Ig-like C2-type 41.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12755T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745359	0.49151	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64803	-0.12;-0.12	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436422	0.26474	N	0.024162	T	0.49813	0.1579	N	0.20610	0.595	0.37196	D	0.904143	B	0.31968	0.349	B	0.38803	0.282	T	0.51100	-0.8748	10	0.09590	T	0.72	.	15.3567	0.74431	0.0:0.0:0.0:1.0	.	4252	Q96RW7	HMCN1_HUMAN	A	4252	ENSP00000271588:V4252A;ENSP00000356462:V4252A	ENSP00000271588:V4252A	V	+	2	0	HMCN1	184363897	0.998000	0.40836	0.908000	0.35775	0.988000	0.76386	3.908000	0.56355	2.028000	0.59812	0.482000	0.46254	GTC		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		106	319	0	0	0	1	0	106	319				
ATP8A1	10396	broad.mit.edu	37	4	42581869	42581869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42581869G>A	ENST00000381668.5	-	11	1192	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	321					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAATGCCTTCGATTCCAAATG	0.343																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(961-963)Cga>Tga		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						74.0	74.0	74.0					4																	42581869		2203	4300	6503	SO:0001587	stop_gained	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42581869G>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.961C>T	4.37:g.42581869G>A	ENSP00000371084:p.Arg321*					ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	p.R321*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			11	1192	-			321					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	37	c.961C>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	39	7.732964	0.98459	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.86	5.02	0.67125	.	0.232071	0.39083	N	0.001465	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	10.6965	0.45903	0.0681:0.1329:0.799:0.0	.	.	.	.	X	321	.	ENSP00000264449:R321X	R	-	1	2	ATP8A1	42276626	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.511000	0.45476	1.604000	0.50143	-0.182000	0.12963	CGA		0.343	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		49	201	0	0	0	1	0	49	201				
NUP210	23225	broad.mit.edu	37	3	13361358	13361358	+	Missense_Mutation	SNP	G	G	A	rs145275394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13361358G>A	ENST00000254508.5	-	37	5370	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1763					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGGTAGTGGACAGAGGCCC	0.612																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5287-5289)tCc>tTc		nucleoporin 210kDa							76.0	70.0	72.0					3																	13361358		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13361358G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5288C>T	3.37:g.13361358G>A	ENSP00000254508:p.Ser1763Phe						p.S1763F	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			37	5370	-	all_neural(104;0.187)		1763					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.5288C>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953438	0.53293	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.66	4.79	0.61399	.	0.064020	0.64402	D	0.000005	T	0.11153	0.0272	M	0.72118	2.19	0.53005	D	0.999968	P	0.35656	0.514	B	0.34590	0.186	T	0.01786	-1.1274	10	0.66056	D	0.02	-31.8634	14.5805	0.68284	0.0699:0.0:0.9301:0.0	.	1763	Q8TEM1	PO210_HUMAN	F	1763	ENSP00000254508:S1763F	ENSP00000254508:S1763F	S	-	2	0	NUP210	13336358	1.000000	0.71417	0.997000	0.53966	0.729000	0.41735	8.986000	0.93492	1.400000	0.46741	-0.136000	0.14681	TCC		0.612	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		58	302	0	0	0	1	0	58	302				
ZSCAN9	7746	broad.mit.edu	37	6	28195209	28195209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28195209G>A	ENST00000252207.5	+	2	495	c.347G>A	c.(346-348)tGt>tAt	p.C116Y	ZSCAN9_ENST00000531981.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000527436.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.C116Y	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	116	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGGAACACTGTCCAGAGAGT	0.512																																						ENST00000527436.1																			0											c.(346-348)tGt>tAt		zinc finger and SCAN domain containing 9							54.0	54.0	54.0					6																	28195209		2203	4300	6503	SO:0001583	missense	7746							g.chr6:28195209G>A	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.347G>A	6.37:g.28195209G>A	ENSP00000252207:p.Cys116Tyr					ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.C116Y|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.C116Y	p.C116Y							2	448	+								B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	ENST00000252207.5	37	c.347G>A	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777906	0.31502	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	3.39	-0.428	0.12306	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.01940	0.0061	L	0.39326	1.205	0.09310	N	1	P;D	0.53619	0.936;0.961	P;P	0.51079	0.658;0.561	T	0.14811	-1.0459	9	0.05620	T	0.96	.	6.0202	0.19625	0.508:0.0:0.492:0.0	.	116;116	E7EVQ2;O15535	.;ZN193_HUMAN	Y	116	ENSP00000404074:C116Y;ENSP00000252207:C116Y;ENSP00000433402:C116Y;ENSP00000433468:C116Y;ENSP00000436166:C116Y	ENSP00000252207:C116Y	C	+	2	0	ZNF193	28303188	0.000000	0.05858	0.011000	0.14972	0.927000	0.56198	-0.174000	0.09839	-0.114000	0.11936	0.561000	0.74099	TGT		0.512	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		36	188	0	0	0	1	0	36	188				
LDLRAP1	26119	broad.mit.edu	37	1	25893459	25893459	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25893459G>T	ENST00000374338.4	+	9	1022	c.903G>T	c.(901-903)gaG>gaT	p.E301D	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	301					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCACAGAGCAGGATGACC	0.647																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(901-903)gaG>gaT		low density lipoprotein receptor adaptor protein 1							41.0	36.0	38.0					1																	25893459		2203	4300	6503	SO:0001583	missense	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25893459G>T	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.903G>T	1.37:g.25893459G>T	ENSP00000363458:p.Glu301Asp					LDLRAP1_ENST00000488127.1_3'UTR	p.E301D	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	9	1022	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	301					A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	c.903G>T	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591921	0.28357	.	.	ENSG00000157978	ENST00000374338	T	0.56611	0.45	5.54	-1.66	0.08265	.	0.494512	0.22727	N	0.056372	T	0.27559	0.0677	L	0.27053	0.805	0.26597	N	0.973083	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04509	-1.0946	10	0.25106	T	0.35	-20.2171	1.3273	0.02128	0.2906:0.2337:0.3498:0.126	.	301;301	B3KR97;Q5SW96	.;ARH_HUMAN	D	301	ENSP00000363458:E301D	ENSP00000363458:E301D	E	+	3	2	LDLRAP1	25766046	0.200000	0.23398	0.971000	0.41717	0.669000	0.39330	0.247000	0.18179	0.003000	0.14656	0.561000	0.74099	GAG		0.647	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		16	207	1	0	3.41278e-10	1	3.61262e-10	16	207				
MC4R	4160	broad.mit.edu	37	18	58038647	58038647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:58038647G>A	ENST00000299766.3	-	1	1354	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TCTCTTTGAAGGTTTTCCTCA	0.418																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(934-936)acC>acT		melanocortin 4 receptor							131.0	124.0	127.0					18																	58038647		2203	4300	6503	SO:0001819	synonymous_variant	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038647G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.936C>T	18.37:g.58038647G>A							p.T312T	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	1354	-		Colorectal(73;0.0946)	312					B2RAC3|Q16317|Q3MIJ6	Silent	SNP	ENST00000299766.3	37	c.936C>T	CCDS11976.1																																																																																				0.418	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		84	382	0	0	0	1	0	84	382				
PHLDB1	23187	broad.mit.edu	37	11	118521155	118521155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118521155C>A	ENST00000361417.2	+	21	4188	c.3777C>A	c.(3775-3777)tgC>tgA	p.C1259*	PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*|PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1259	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCAGGTCTGCCGTGGCTACT	0.522																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3775-3777)tgC>tgA		pleckstrin homology-like domain, family B, member 1							144.0	124.0	131.0					11																	118521155		2200	4295	6495	SO:0001587	stop_gained	23187							g.chr11:118521155C>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3777C>A	11.37:g.118521155C>A	ENSP00000354498:p.Cys1259*					PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*	p.C1259*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	21	4188	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1259			PH.		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	c.3777C>A	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804019	0.96967	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.941	16.4284	0.83832	0.0:1.0:0.0:0.0	.	.	.	.	X	1259;1033;623;1212;310;402	.	ENSP00000348359:C1212X	C	+	3	2	PHLDB1	118026365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.831000	0.55776	2.401000	0.81631	0.655000	0.94253	TGC		0.522	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		43	442	1	0	4.67007e-22	1	5.27622e-22	43	442				
SLC16A12	387700	broad.mit.edu	37	10	91203589	91203589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91203589G>A	ENST00000341233.4	-	4	528	c.138C>T	c.(136-138)ttC>ttT	p.F46F	SLC16A12_ENST00000371790.4_Silent_p.F76F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGTATGTCTGGAACTCCACAA	0.368																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(136-138)ttC>ttT		solute carrier family 16, member 12							98.0	89.0	92.0					10																	91203589		2203	4300	6503	SO:0001819	synonymous_variant	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91203589G>A		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.138C>T	10.37:g.91203589G>A						SLC16A12_ENST00000371790.4_Silent_p.F76F	p.F46F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			4	528	-			46					Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	ENST00000341233.4	37	c.138C>T																																																																																					0.368	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		31	154	0	0	0	1	0	31	154				
RP1	6101	broad.mit.edu	37	8	55539291	55539291	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55539291A>C	ENST00000220676.1	+	4	2997	c.2849A>C	c.(2848-2850)aAt>aCt	p.N950T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	950					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTAGCAATAATAGTTTTTCA	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2848-2850)aAt>aCt		retinitis pigmentosa 1 (autosomal dominant)							43.0	46.0	45.0					8																	55539291		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539291A>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2849A>C	8.37:g.55539291A>C	ENSP00000220676:p.Asn950Thr						p.N950T	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2997	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	950						Missense_Mutation	SNP	ENST00000220676.1	37	c.2849A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	7.822	0.718019	0.15372	.	.	ENSG00000104237	ENST00000220676	T	0.49432	0.78	5.67	-7.84	0.01196	.	1.146690	0.06426	N	0.723180	T	0.34221	0.0890	L	0.43152	1.355	0.09310	N	1	B	0.30763	0.294	B	0.27887	0.084	T	0.47983	-0.9074	10	0.72032	D	0.01	.	9.5623	0.39378	0.1535:0.1029:0.642:0.1016	.	950	P56715	RP1_HUMAN	T	950	ENSP00000220676:N950T	ENSP00000220676:N950T	N	+	2	0	RP1	55701844	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.341000	0.02647	-0.777000	0.04572	0.533000	0.62120	AAT		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		44	260	0	0	0	1	0	44	260				
PARD3	56288	broad.mit.edu	37	10	34985290	34985290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34985290C>T	ENST00000374789.3	-	2	503	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	60					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCAAGGTCTAGTATTCCT	0.408																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(178-180)Gac>Aac		par-3 family cell polarity regulator							334.0	282.0	300.0					10																	34985290		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34985290C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.178G>A	10.37:g.34985290C>T	ENSP00000363921:p.Asp60Asn					PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N	p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			2	503	-		Breast(68;0.0707)	60					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.178G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732192	0.89482	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.66	4.76	0.60689	.	0.102022	0.64402	D	0.000004	T	0.80660	0.4665	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;P;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.892;0.996;0.998;0.996;0.999;0.999;0.997;0.999;0.999;0.994	D	0.84184	0.0441	10	0.87932	D	0	.	15.5948	0.76569	0.0:0.8615:0.1384:0.0	.	60;60;60;60;60;60;60;60;60;60;60	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	N	60	ENSP00000443147:D60N;ENSP00000440857:D60N;ENSP00000363921:D60N;ENSP00000363920:D60N;ENSP00000340591:D60N;ENSP00000363926:D60N;ENSP00000311986:D60N;ENSP00000363922:D60N;ENSP00000363908:D60N;ENSP00000341844:D60N;ENSP00000363905:D60N	ENSP00000341844:D60N	D	-	1	0	PARD3	35025296	1.000000	0.71417	0.172000	0.22920	0.872000	0.50106	7.336000	0.79245	1.377000	0.46286	0.650000	0.86243	GAC		0.408	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		154	822	0	0	0	1	0	154	822				
OTX1	5013	broad.mit.edu	37	2	63283199	63283199	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283199C>A	ENST00000282549.2	+	5	1089	c.813C>A	c.(811-813)tcC>tcA	p.S271S	OTX1_ENST00000366671.3_Silent_p.S271S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	271					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CACCCTCCTCCATGGCGGGCC	0.637																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(811-813)tcC>tcA		orthodenticle homeobox 1							135.0	119.0	124.0					2																	63283199		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283199C>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.813C>A	2.37:g.63283199C>A						OTX1_ENST00000366671.3_Silent_p.S271S	p.S271S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1089	+	Lung NSC(7;0.121)|all_lung(7;0.211)		271					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.813C>A	CCDS1873.1																																																																																				0.637	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			248	776	1	0	8.70135e-78	1	1.11109e-77	248	776				
VPREB1	7441	broad.mit.edu	37	22	22599398	22599398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22599398G>A	ENST00000403807.3	+	2	226	c.87G>A	c.(85-87)atG>atA	p.M29I	VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	29	Framework-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CGCCGGCCATGTCCTCGGCCC	0.642																																						ENST00000403807.3																			0				large_intestine(1)|liver(1)|lung(6)|skin(1)	9						c.(85-87)atG>atA		pre-B lymphocyte 1							80.0	79.0	79.0					22																	22599398		2203	4300	6503	SO:0001583	missense	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599398G>A	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.87G>A	22.37:g.22599398G>A	ENSP00000385361:p.Met29Ile					VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I	p.M29I			P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	226	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	29			Framework-1.|Ig-like V-type.		B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	c.87G>A	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	g	10.67	1.415047	0.25552	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.63096	-0.02;-0.02	3.61	-3.22	0.05125	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.358280	0.04993	N	0.467656	T	0.52158	0.1717	L	0.41356	1.27	0.09310	N	1	B	0.27117	0.168	B	0.31946	0.138	T	0.50466	-0.8825	10	0.46703	T	0.11	.	7.0987	0.25325	0.203:0.5644:0.2326:0.0	.	29	P12018	VPREB_HUMAN	I	29;28	ENSP00000385361:M29I;ENSP00000304590:M28I	ENSP00000304590:M28I	M	+	3	0	VPREB1	20929398	0.456000	0.25744	0.001000	0.08648	0.000000	0.00434	0.678000	0.25277	-0.272000	0.09259	-0.914000	0.02751	ATG		0.642	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			68	283	0	0	0	1	0	68	283				
MYADM	91663	broad.mit.edu	37	19	54377221	54377221	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377221C>T	ENST00000391769.2	+	3	718	c.438C>T	c.(436-438)atC>atT	p.I146I	MYADM_ENST00000336967.3_Silent_p.I146I|MYADM_ENST00000391770.4_Silent_p.I146I|MYADM_ENST00000391771.1_Silent_p.I146I|MYADM_ENST00000391768.2_Silent_p.I146I|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	146	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCTCCTGCATCGCGTGTGTGG	0.667																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(436-438)atC>atT		myeloid-associated differentiation marker							62.0	62.0	62.0					19																	54377221		2203	4300	6503	SO:0001819	synonymous_variant	91663					integral to membrane		g.chr19:54377221C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.438C>T	19.37:g.54377221C>T						MYADM_ENST00000391770.4_Silent_p.I146I|MYADM_ENST00000391768.2_Silent_p.I146I|MYADM_ENST00000391771.1_Silent_p.I146I|MYADM_ENST00000336967.3_Silent_p.I146I	p.I146I	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	718	+	Ovarian(34;0.19)		146			MARVEL 1.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	c.438C>T	CCDS12866.1																																																																																				0.667	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		85	429	0	0	0	1	0	85	429				
CCER1	196477	broad.mit.edu	37	12	91347597	91347597	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91347597T>C	ENST00000358859.2	-	1	1356	c.923A>G	c.(922-924)gAa>gGa	p.E308G	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	308	Glu-rich.																ctcctcatcttcgacctcttc	0.527																																						ENST00000358859.2																			0											c.(922-924)gAa>gGa		coiled-coil glutamate-rich protein 1							215.0	186.0	196.0					12																	91347597		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347597T>C	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.923A>G	12.37:g.91347597T>C	ENSP00000351727:p.Glu308Gly					CCER1_ENST00000548187.1_Intron	p.E308G	NM_152638.2	NP_689851.1					1	1356	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.923A>G	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	T	4.092	0.015149	0.07959	.	.	ENSG00000197651	ENST00000358859	T	0.37411	1.2	4.76	-5.08	0.02929	.	0.249561	0.20757	N	0.086240	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	P	0.42908	0.793	B	0.40375	0.327	T	0.21655	-1.0239	10	0.34782	T	0.22	-10.5853	4.7038	0.12839	0.1276:0.0823:0.5219:0.2682	.	308	Q8TC90	CL012_HUMAN	G	308	ENSP00000351727:E308G	ENSP00000351727:E308G	E	-	2	0	C12orf12	89871728	0.005000	0.15991	0.000000	0.03702	0.070000	0.16714	1.290000	0.33319	-0.717000	0.04955	-0.710000	0.03640	GAA		0.527	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		48	485	0	0	0	1	0	48	485				
MAGI2	9863	broad.mit.edu	37	7	77789563	77789563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77789563C>T	ENST00000354212.4	-	16	2877	c.2624G>A	c.(2623-2625)aGt>aAt	p.S875N	MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N|MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	875					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGAGCCTGGACTTCTCCCGTT	0.537																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2623-2625)aGt>aAt		membrane associated guanylate kinase, WW and PDZ domain containing 2							123.0	115.0	117.0					7																	77789563		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77789563C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2624G>A	7.37:g.77789563C>T	ENSP00000346151:p.Ser875Asn					MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N|MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N	p.S875N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			16	2877	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	875					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2624G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344979	0.95807	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11712	2.84;2.84;2.75	5.51	5.51	0.81932	.	0.000000	0.42548	U	0.000685	T	0.32010	0.0815	M	0.66939	2.045	0.80722	D	1	D;D;D	0.63880	0.985;0.99;0.993	P;D;P	0.63488	0.715;0.915;0.813	T	0.00822	-1.1552	10	0.54805	T	0.06	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	875;861;875	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	N	861;875;875;875	ENSP00000405766:S861N;ENSP00000346151:S875N;ENSP00000428389:S875N	ENSP00000346151:S875N	S	-	2	0	MAGI2	77627499	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.456000	0.80751	2.595000	0.87683	0.591000	0.81541	AGT		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		61	249	0	0	0	1	0	61	249				
AK7	122481	broad.mit.edu	37	14	96904235	96904235	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96904235T>C	ENST00000267584.4	+	6	717	c.673T>C	c.(673-675)Tta>Cta	p.L225L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	225					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGGAGGCATGTTACACACATT	0.373																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(673-675)Tta>Cta		adenylate kinase 7							90.0	94.0	93.0					14																	96904235		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96904235T>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.673T>C	14.37:g.96904235T>C							p.L225L	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	6	717	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	225					Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.673T>C	CCDS9945.1																																																																																				0.373	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			7	311	0	0	0	1	0	7	311				
SIVA1	10572	broad.mit.edu	37	14	105222077	105222077	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105222077G>T	ENST00000329967.6	+	2	331	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	77					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TGGCCCTACAGGGGCCCCGAG	0.667																																						ENST00000329967.6																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(229-231)Ggg>Tgg		SIVA1, apoptosis-inducing factor							42.0	44.0	43.0					14																	105222077		2203	4300	6503	SO:0001583	missense	10572				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding	g.chr14:105222077G>T	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.229G>T	14.37:g.105222077G>T	ENSP00000329213:p.Gly77Trp					SIVA1_ENST00000347067.5_Intron	p.G77W	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)	2	331	+		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	77					Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	37	c.229G>T	CCDS9992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.981899|1.981899	0.34942|0.34942	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000329967;ENST00000553810|ENST00000556195	.|.	.|.	.|.	5.1|5.1	4.21|4.21	0.49690|0.49690	.|.	0.646995|.	0.14521|.	N|.	0.314427|.	T|T	0.52451|0.52451	0.1735|0.1735	L|L	0.36672|0.36672	1.1|1.1	0.43745|0.43745	D|D	0.996247|0.996247	D;D;D|.	0.69078|.	0.975;0.992;0.997|.	D;D;D|.	0.64321|.	0.911;0.911;0.924|.	T|T	0.45804|0.45804	-0.9236|-0.9236	9|5	0.72032|.	D|.	0.01|.	-9.7975|-9.7975	9.738|9.738	0.40399|0.40399	0.096:0.0:0.904:0.0|0.096:0.0:0.904:0.0	.|.	77;77;77|.	B4DTY2;O15304;G3V3U1|.	.;SIVA_HUMAN;.|.	W|H	77|94	.|.	ENSP00000329213:G77W|.	G|Q	+|+	1|3	0|2	SIVA1|SIVA1	104293122|104293122	0.015000|0.015000	0.18098|0.18098	0.014000|0.014000	0.15608|0.15608	0.043000|0.043000	0.13939|0.13939	2.116000|2.116000	0.41930|0.41930	1.139000|1.139000	0.42245|0.42245	0.655000|0.655000	0.94253|0.94253	GGG|CAG		0.667	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		10	354	1	0	0.000442599	1	0.000448314	10	354				
HEATR5B	54497	broad.mit.edu	37	2	37232786	37232786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37232786C>T	ENST00000233099.5	-	30	4989	c.4894G>A	c.(4894-4896)Gca>Aca	p.A1632T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1632						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGATCTTCTGCAATATGGACT	0.403																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(4894-4896)Gca>Aca		HEAT repeat containing 5B							137.0	127.0	130.0					2																	37232786		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37232786C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4894G>A	2.37:g.37232786C>T	ENSP00000233099:p.Ala1632Thr					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	p.A1632T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			30	4989	-		all_hematologic(82;0.21)	1632					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.4894G>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629953	0.67015	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.52295	0.67;0.67	5.63	5.63	0.86233	Armadillo-type fold (1);	0.056422	0.64402	D	0.000001	T	0.32466	0.0830	N	0.10874	0.06	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.08493	-1.0719	10	0.22706	T	0.39	-17.3207	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1632	Q9P2D3	HTR5B_HUMAN	T	1632	ENSP00000233099:A1632T;ENSP00000346531:A1632T	ENSP00000233099:A1632T	A	-	1	0	HEATR5B	37086290	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.594000	0.82698	2.652000	0.90054	0.655000	0.94253	GCA		0.403	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		70	349	0	0	0	1	0	70	349				
POLR2A	5430	broad.mit.edu	37	17	7406566	7406566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7406566G>T	ENST00000322644.6	+	17	3282	c.2883G>T	c.(2881-2883)gaG>gaT	p.E961D		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	961					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGATGCGGGAGGATCGGGAGG	0.612																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2881-2883)gaG>gaT		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							132.0	127.0	129.0					17																	7406566		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7406566G>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2883G>T	17.37:g.7406566G>T	ENSP00000314949:p.Glu961Asp						p.E961D	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			17	3282	+		Prostate(122;0.173)	961					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2883G>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536290	0.45176	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68025	-0.3	5.25	4.27	0.50696	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	N	0.25992	0.78	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.50591	-0.8810	10	0.40728	T	0.16	-15.1705	12.3295	0.55031	0.0844:0.0:0.9156:0.0	.	961	P24928	RPB1_HUMAN	D	917;961	ENSP00000314949:E961D	ENSP00000314949:E961D	E	+	3	2	SLC35G6	7347290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.610000	0.67668	1.557000	0.49525	0.655000	0.94253	GAG		0.612	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		50	231	1	0	1.86633e-21	1	2.10207e-21	50	231				
HECTD1	25831	broad.mit.edu	37	14	31618318	31618318	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31618318A>G	ENST00000399332.1	-	14	2692	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	735					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGATGGCTTTACTTGGCCTCG	0.363																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2203-2205)gTa>gCa		HECT domain containing E3 ubiquitin protein ligase 1							145.0	124.0	130.0					14																	31618318		1870	4105	5975	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31618318A>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2204T>C	14.37:g.31618318A>G	ENSP00000382269:p.Val735Ala					HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	p.V735A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	14	2692	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		735					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2204T>C	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717245	0.89205	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.58810	1.83	0.80722	D	1	D;P	0.55605	0.972;0.924	P;P	0.59424	0.675;0.857	T	0.12811	-1.0533	10	0.54805	T	0.06	-15.8141	15.9701	0.80008	1.0:0.0:0.0:0.0	.	735;735	D3DS86;Q9ULT8	.;HECD1_HUMAN	A	735;735;735;209;735	ENSP00000450697:V735A;ENSP00000382269:V735A;ENSP00000451860:V209A;ENSP00000452015:V735A	ENSP00000261312:V735A	V	-	2	0	HECTD1	30688069	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.317000	0.96327	2.166000	0.68216	0.528000	0.53228	GTA		0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			44	173	0	0	0	1	0	44	173				
ACVR1C	130399	broad.mit.edu	37	2	158399284	158399284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158399284G>A	ENST00000243349.8	-	6	1394	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGCTTCACAGCCAACCCTAA	0.408																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1033-1035)gCt>gTt		activin A receptor, type IC							237.0	215.0	223.0					2																	158399284		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158399284G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1034C>T	2.37:g.158399284G>A	ENSP00000243349:p.Ala345Val					ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V	p.A345V	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			6	1394	-			345			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1034C>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663136	0.96745	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000088	D	0.91023	0.7176	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.92740	0.6207	10	0.87932	D	0	.	19.9422	0.97170	0.0:0.0:1.0:0.0	.	188;265;345	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	V	345;295;188;265	ENSP00000243349:A345V;ENSP00000387168:A295V;ENSP00000335139:A188V;ENSP00000335178:A265V	ENSP00000243349:A345V	A	-	2	0	ACVR1C	158107530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GCT		0.408	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		124	507	0	0	0	1	0	124	507				
RELT	84957	broad.mit.edu	37	11	73103471	73103471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73103471G>A	ENST00000064780.2	+	6	844	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	RELT_ENST00000393580.2_Missense_Mutation_p.A195T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	195						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CCACTGCACGGCGCACAAGGA	0.682																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(583-585)Gcg>Acg		RELT tumor necrosis factor receptor							43.0	47.0	45.0					11																	73103471		2200	4293	6493	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73103471G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.583G>A	11.37:g.73103471G>A	ENSP00000064780:p.Ala195Thr					RELT_ENST00000393580.2_Missense_Mutation_p.A195T	p.A195T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			6	844	+			195					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.583G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701646	0.15172	.	.	ENSG00000054967	ENST00000064780;ENST00000393580	T;T	0.71461	-0.57;-0.57	5.69	3.84	0.44239	.	0.245949	0.40302	N	0.001131	T	0.49712	0.1573	N	0.03209	-0.39	0.43673	D	0.996101	P	0.47604	0.898	P	0.51615	0.675	T	0.54957	-0.8215	10	0.02654	T	1	-21.6908	8.3317	0.32191	0.0787:0.0:0.7666:0.1547	.	195	Q969Z4	TR19L_HUMAN	T	195	ENSP00000064780:A195T;ENSP00000377207:A195T	ENSP00000064780:A195T	A	+	1	0	RELT	72781119	0.982000	0.34865	0.105000	0.21289	0.239000	0.25481	2.100000	0.41777	0.779000	0.33543	-0.226000	0.12346	GCG		0.682	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		7	215	0	0	0	1	0	7	215				
GPX5	2880	broad.mit.edu	37	6	28497272	28497272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28497272G>T	ENST00000412168.2	+	2	221	c.132G>T	c.(130-132)gaG>gaT	p.E44D	GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	44					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ATGACTATGAGGCCATCGCAC	0.433																																						ENST00000412168.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(130-132)gaG>gaT		glutathione peroxidase 5 (epididymal androgen-related protein)	Glutathione(DB00143)						171.0	141.0	151.0					6																	28497272		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28497272G>T	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.132G>T	6.37:g.28497272G>T	ENSP00000392398:p.Glu44Asp					GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX5_ENST00000442674.2_3'UTR	p.E44D	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN			2	221	+			44					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.132G>T	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868061	0.02590	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03982	3.74;3.74	3.65	-5.39	0.02664	Thioredoxin-like fold (2);	1.372440	0.04755	N	0.425323	T	0.01558	0.0050	M	0.65975	2.015	0.18873	N	0.999986	B;B	0.18863	0.031;0.0	B;B	0.17098	0.017;0.001	T	0.44205	-0.9343	10	0.40728	T	0.16	-0.7799	1.8104	0.03089	0.1694:0.1208:0.2565:0.4533	.	44;44	A1A4Y0;O75715	.;GPX5_HUMAN	D	44	ENSP00000392398:E44D;ENSP00000419935:E44D	ENSP00000392398:E44D	E	+	3	2	GPX5	28605251	0.148000	0.22702	0.001000	0.08648	0.292000	0.27327	-0.894000	0.04123	-1.342000	0.02222	-0.182000	0.12963	GAG		0.433	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			41	229	1	0	5.71845e-15	1	6.23116e-15	41	229				
CAMTA1	23261	broad.mit.edu	37	1	7811265	7811265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7811265C>T	ENST00000303635.7	+	20	4903	c.4696C>T	c.(4696-4698)Ctt>Ttt	p.L1566F	CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1566	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAGTACGCACTTTATAAAAA	0.488			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4696-4698)Ctt>Ttt		calmodulin binding transcription activator 1							194.0	208.0	203.0					1																	7811265		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7811265C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4696C>T	1.37:g.7811265C>T	ENSP00000306522:p.Leu1566Phe					CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F	p.L1566F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	20	4903	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1566			IQ 1.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4696C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789180	0.90367	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.72615	-0.67;-0.67;-0.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.70425	-0.4875	10	0.13853	T	0.58	-7.3596	19.7272	0.96168	0.0:1.0:0.0:0.0	.	609;529;1566	B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;CMTA1_HUMAN	F	1566;1552;609;529;130	ENSP00000306522:L1566F;ENSP00000402561:L1552F;ENSP00000452319:L130F	ENSP00000306522:L1566F	L	+	1	0	CAMTA1	7733852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	CTT		0.488	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		268	1179	0	0	0	1	0	268	1179				
LOC100130331	100130331	broad.mit.edu	37	1	238090488	238090488	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238090488C>A	ENST00000450451.1	+	0	1994					NR_027247.2																						GAGAAGATGACTCAGATCATG	0.592																																						ENST00000450451.1																			0																																																			0							g.chr1:238090488C>A																													1.37:g.238090488C>A								NR_027247.2						0	1994	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.592	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			86	258	1	0	1.13027e-35	1	1.35034e-35	86	258				
GIT1	28964	broad.mit.edu	37	17	27909775	27909775	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27909775A>C	ENST00000225394.3	-	4	594	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.F116V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	116	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TTGTGCACAAATGCCAGCATC	0.587																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(346-348)Ttt>Gtt		G protein-coupled receptor kinase interacting ArfGAP 1							92.0	81.0	85.0					17																	27909775		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27909775A>C	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.346T>G	17.37:g.27909775A>C	ENSP00000225394:p.Phe116Val					RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V|GIT1_ENST00000394869.3_Missense_Mutation_p.F116V	p.F116V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	4	594	-			116			Arf-GAP.		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.346T>G	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750783	0.89753	.	.	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.50813	0.73;0.73	4.48	4.48	0.54585	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.69078	0.971;0.996;0.997;0.997	D;D;D;D	0.80764	0.951;0.991;0.994;0.981	D	0.84535	0.0635	10	0.87932	D	0	.	13.1832	0.59666	1.0:0.0:0.0:0.0	.	120;116;116;116	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	V	116	ENSP00000225394:F116V;ENSP00000378338:F116V	ENSP00000225394:F116V	F	-	1	0	GIT1	24933901	1.000000	0.71417	0.908000	0.35775	0.983000	0.72400	9.087000	0.94110	2.022000	0.59522	0.454000	0.30748	TTT		0.587	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		58	204	0	0	0	1	0	58	204				
IPO13	9670	broad.mit.edu	37	1	44425977	44425977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44425977G>A	ENST00000372343.3	+	12	2747	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	695					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGCAAATGGTTGAATGATG	0.552																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2083-2085)tgG>tgA		importin 13							312.0	252.0	272.0					1																	44425977		2203	4300	6503	SO:0001587	stop_gained	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425977G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2085G>A	1.37:g.44425977G>A	ENSP00000361418:p.Trp695*						p.W695*	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			12	2747	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	695					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Nonsense_Mutation	SNP	ENST00000372343.3	37	c.2085G>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	47	13.170517	0.99724	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-14.3335	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	695	.	ENSP00000361418:W695X	W	+	3	0	IPO13	44198564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.530000	0.98051	2.941000	0.99782	0.655000	0.94253	TGG		0.552	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		13	971	0	0	0	1	0	13	971				
RCOR3	55758	broad.mit.edu	37	1	211449613	211449613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211449613G>A	ENST00000367005.4	+	4	336	c.195G>A	c.(193-195)ttG>ttA	p.L65L	RCOR3_ENST00000452621.2_Silent_p.L123L|RCOR3_ENST00000419091.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	65	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGGCATGTTGTTCTGGCATA	0.373																																						ENST00000367005.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(193-195)ttG>ttA		REST corepressor 3							221.0	220.0	220.0					1																	211449613		2203	4300	6503	SO:0001819	synonymous_variant	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211449613G>A	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.195G>A	1.37:g.211449613G>A						RCOR3_ENST00000452621.2_Silent_p.L123L|RCOR3_ENST00000419091.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L	p.L65L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	4	336	+			65			ELM2.		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	ENST00000367005.4	37	c.195G>A	CCDS31016.1																																																																																				0.373	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		265	775	0	0	0	1	0	265	775				
CSGALNACT1	55790	broad.mit.edu	37	8	19315993	19315993	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19315993A>G	ENST00000454498.2	-	5	1808	c.795T>C	c.(793-795)gtT>gtC	p.V265V	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000311540.4_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_Silent_p.V265V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	265					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAGGCACGATAACATTGATAA	0.443																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(793-795)gtT>gtC		chondroitin sulfate N-acetylgalactosaminyltransferase 1							379.0	351.0	361.0					8																	19315993		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19315993A>G	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.795T>C	8.37:g.19315993A>G						CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000311540.4_Silent_p.V265V	p.V265V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1808	-			265					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.795T>C	CCDS6010.1																																																																																				0.443	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		305	1389	0	0	0	1	0	305	1389				
LMTK3	114783	broad.mit.edu	37	19	49001742	49001742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49001742G>T	ENST00000600059.1	-	11	2811	c.2584C>A	c.(2584-2586)Ctg>Atg	p.L862M	LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	862	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACATCAGCAGCTGTTCCGTG	0.706																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(2584-2586)Ctg>Atg		lemur tyrosine kinase 3							11.0	12.0	11.0					19																	49001742		1909	4130	6039	SO:0001583	missense	114783							g.chr19:49001742G>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2584C>A	19.37:g.49001742G>T	ENSP00000472020:p.Leu862Met					LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M	p.L862M						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	2811	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.2584C>A		.	.	.	.	.	.	.	.	.	.	G	7.959	0.746601	0.15710	.	.	ENSG00000142235	ENST00000270238	D	0.86366	-2.11	3.37	1.09	0.20402	.	0.407546	0.17495	N	0.172205	D	0.84120	0.5402	N	0.14661	0.345	0.24288	N	0.995175	D	0.76494	0.999	D	0.66716	0.946	T	0.74147	-0.3759	10	0.52906	T	0.07	.	7.5999	0.28069	0.2278:0.0:0.7722:0.0	.	862	Q96Q04	LMTK3_HUMAN	M	891	ENSP00000270238:L891M	ENSP00000270238:L891M	L	-	1	2	LMTK3	53693554	0.172000	0.23043	0.992000	0.48379	0.408000	0.30992	0.810000	0.27183	0.253000	0.21552	0.449000	0.29647	CTG		0.706	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		8	40	1	0	5.4927e-09	1	5.7613e-09	8	40				
AGAP2	116986	broad.mit.edu	37	12	58126674	58126674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58126674C>T	ENST00000547588.1	-	6	1637	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	AGAP2_ENST00000257897.3_Silent_p.E210E	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	546	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTGCACAAGTCTCATAGTAGC	0.577																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(628-630)gaG>gaA		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							282.0	264.0	270.0					12																	58126674		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58126674C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1638G>A	12.37:g.58126674C>T						AGAP2_ENST00000547588.1_Silent_p.E546E	p.E210E	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			6	715	-			546			Interactions with HOMER1 and NF2 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.630G>A	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	9.537	1.112330	0.20795	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.9	4.01	0.46588	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62374	-0.6868	4	.	.	.	.	12.5231	0.56072	0.0:0.9176:0.0:0.0824	.	.	.	.	N	410	.	.	D	-	1	0	AGAP2	56412941	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.496000	0.35638	1.444000	0.47605	0.655000	0.94253	GAC		0.577	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		23	1730	0	0	0	1	0	23	1730				
SH3TC2	79628	broad.mit.edu	37	5	148422323	148422323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148422323C>T	ENST00000515425.1	-	5	564	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K|SH3TC2_ENST00000538184.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	155					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGATCTCTGTATCCTCC	0.448																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(463-465)Gag>Aag		SH3 domain and tetratricopeptide repeats 2							176.0	162.0	167.0					5																	148422323		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148422323C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.463G>A	5.37:g.148422323C>T	ENSP00000423660:p.Glu155Lys					SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K	p.E155K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	564	-			155					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.463G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325966	0.24080	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.76968	-1.06;-1.05;-0.72	5.12	3.19	0.36642	.	0.227351	0.36338	N	0.002644	T	0.63873	0.2548	L	0.31926	0.97	0.38647	D	0.951752	B;B;B	0.34255	0.355;0.445;0.445	B;B;B	0.28638	0.092;0.077;0.077	T	0.65319	-0.6197	10	0.33141	T	0.24	.	12.0414	0.53454	0.0:0.8348:0.0:0.1652	.	40;148;155	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	K	155;148;40	ENSP00000423660:E155K;ENSP00000421860:E148K;ENSP00000377886:E40K	ENSP00000313025:E155K	E	-	1	0	SH3TC2	148402516	0.930000	0.31532	0.955000	0.39395	0.270000	0.26580	1.869000	0.39519	1.380000	0.46344	0.655000	0.94253	GAG		0.448	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		43	440	0	0	0	1	0	43	440				
NPY2R	4887	broad.mit.edu	37	4	156136031	156136031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156136031G>A	ENST00000329476.3	+	2	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	314					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCACATCATCGCCATGTGCTC	0.537																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(940-942)Gcc>Acc		neuropeptide Y receptor Y2							123.0	97.0	106.0					4																	156136031		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136031G>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.940G>A	4.37:g.156136031G>A	ENSP00000332591:p.Ala314Thr					NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1429	+	all_hematologic(180;0.24)	Renal(120;0.0854)	314					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.940G>A	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668224	0.88348	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.69175	-0.38;-0.38	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87349	0.2336	10	0.87932	D	0	.	19.1661	0.93559	0.0:0.0:1.0:0.0	.	314	P49146	NPY2R_HUMAN	T	314	ENSP00000332591:A314T;ENSP00000426366:A314T	ENSP00000332591:A314T	A	+	1	0	NPY2R	156355481	1.000000	0.71417	0.977000	0.42913	0.722000	0.41435	9.869000	0.99810	2.770000	0.95276	0.643000	0.83706	GCC		0.537	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		51	300	0	0	0	1	0	51	300				
FAM129A	116496	broad.mit.edu	37	1	184859344	184859344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:184859344C>A	ENST00000367511.3	-	4	524	c.331G>T	c.(331-333)Gga>Tga	p.G111*		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	111					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGAGCAGCTCCTCTCTGATAG	0.433																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(331-333)Gga>Tga		family with sequence similarity 129, member A							70.0	71.0	71.0					1																	184859344		2203	4300	6503	SO:0001587	stop_gained	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184859344C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.331G>T	1.37:g.184859344C>A	ENSP00000356481:p.Gly111*						p.G111*	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			4	524	-			111					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	37	c.331G>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	37	6.386892	0.97524	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.71	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.069	12.7785	0.57464	0.0:0.8357:0.1643:0.0	.	.	.	.	X	111	.	ENSP00000356481:G111X	G	-	1	0	FAM129A	183125967	0.993000	0.37304	0.989000	0.46669	0.450000	0.32258	3.074000	0.50065	1.387000	0.46486	0.655000	0.94253	GGA		0.433	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			80	201	1	0	2.43199e-30	1	2.85193e-30	80	201				
DNAH1	25981	broad.mit.edu	37	3	52389063	52389063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52389063C>A	ENST00000420323.2	+	21	3946	c.3685C>A	c.(3685-3687)Ctg>Atg	p.L1229M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1229	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAACTGAAGCTGACCCAGGT	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3685-3687)Ctg>Atg		dynein, axonemal, heavy chain 1							90.0	92.0	91.0					3																	52389063		2006	4153	6159	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52389063C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3685C>A	3.37:g.52389063C>A	ENSP00000401514:p.Leu1229Met						p.L1229M	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	3946	+			1229			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3685C>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815470	0.32145	.	.	ENSG00000114841	ENST00000420323	T	0.62498	0.02	5.14	4.27	0.50696	.	0.195600	0.24935	N	0.034437	T	0.51702	0.1690	L	0.39147	1.195	0.34934	D	0.749625	B	0.32382	0.368	B	0.38327	0.271	T	0.59332	-0.7474	10	0.39692	T	0.17	.	5.0893	0.14700	0.2129:0.6141:0.0:0.173	.	1229	C9JXH6	.	M	1229	ENSP00000401514:L1229M	ENSP00000401514:L1229M	L	+	1	2	DNAH1	52364103	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.028000	0.41088	1.164000	0.42652	0.462000	0.41574	CTG		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		53	226	1	0	1.32667e-27	1	1.53764e-27	53	226				
GBA2	57704	broad.mit.edu	37	9	35740847	35740847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35740847G>A	ENST00000378103.3	-	5	1524	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.T334M|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	334					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACAGCCATCGTGTAGGGGTT	0.602																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1000-1002)aCg>aTg		glucosidase, beta (bile acid) 2							85.0	79.0	81.0					9																	35740847		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35740847G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1001C>T	9.37:g.35740847G>A	ENSP00000367343:p.Thr334Met					GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M|GBA2_ENST00000378103.3_Missense_Mutation_p.T334M	p.T334M			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	1514	-	all_epithelial(49;0.167)		334					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1001C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940697	0.92526	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.81	5.81	0.92471	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87969	0.2735	9	0.59425	D	0.04	-14.4858	20.0787	0.97763	0.0:0.0:1.0:0.0	.	340;334;334	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	M	334;334;340	.	ENSP00000367334:T334M	T	-	2	0	GBA2	35730847	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.800000	0.85949	2.757000	0.94681	0.462000	0.41574	ACG		0.602	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		68	265	0	0	0	1	0	68	265				
THOC6	79228	broad.mit.edu	37	16	3076719	3076719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076719G>A	ENST00000326266.8	+	8	819	c.523G>A	c.(523-525)Gca>Aca	p.A175T	HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|HCFC1R1_ENST00000574151.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	175					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACTGCCTGGCACTGCGGGA	0.607																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(523-525)Gca>Aca		THO complex 6 homolog (Drosophila)							72.0	65.0	67.0					16																	3076719		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076719G>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.523G>A	16.37:g.3076719G>A	ENSP00000326531:p.Ala175Thr					THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T	p.A175T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			8	819	+			175					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.523G>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591751	0.46214	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.63744	-0.06;-0.06	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.161710	0.53938	D	0.000043	T	0.59432	0.2193	L	0.52759	1.655	0.39501	D	0.968208	B;B	0.29552	0.208;0.248	B;B	0.30179	0.068;0.112	T	0.60326	-0.7285	10	0.46703	T	0.11	-22.8815	17.0618	0.86549	0.0:0.0:1.0:0.0	.	175;175	Q86W42-3;Q86W42	.;THOC6_HUMAN	T	175	ENSP00000326531:A175T;ENSP00000253952:A175T	ENSP00000253952:A175T	A	+	1	0	THOC6	3016720	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.137000	0.42130	2.631000	0.89168	0.561000	0.74099	GCA		0.607	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		6	136	0	0	0	1	0	6	136				
OR2L2	26246	broad.mit.edu	37	1	248202496	248202496	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248202496A>G	ENST00000366479.2	+	1	1023	c.927A>G	c.(925-927)tcA>tcG	p.S309S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAATCTTCTCAGTGAAAATGT	0.438																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(925-927)tcA>tcG		olfactory receptor, family 2, subfamily L, member 2							63.0	62.0	63.0					1																	248202496		2203	4299	6502	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202496A>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.927A>G	1.37:g.248202496A>G						OR2L13_ENST00000366478.2_Intron	p.S309S	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	1023	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		309					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.927A>G	CCDS31103.1																																																																																				0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		71	403	0	0	0	1	0	71	403				
NLGN1	22871	broad.mit.edu	37	3	173996663	173996663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996663G>A	ENST00000457714.1	+	6	1301	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	308					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTTTTCAACGAGCAATAGCT	0.358																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(871-873)cGa>cAa		neuroligin 1							50.0	51.0	51.0					3																	173996663		2202	4299	6501	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996663G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.872G>A	3.37:g.173996663G>A	ENSP00000392500:p.Arg291Gln					NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q	p.R291Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1301	+	Ovarian(172;0.0025)		308					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.872G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751325	0.89753	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71698	0.01;0.01;-0.59;0.01;0.01	5.59	5.59	0.84812	.	0.059259	0.64402	D	0.000004	D	0.84786	0.5549	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.69479	0.955;0.964	D	0.85471	0.1173	10	0.66056	D	0.02	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	331;291	D2X2H5;Q8N2Q7-2	.;.	Q	291;291;331;291;331	ENSP00000392500:R291Q;ENSP00000354541:R291Q;ENSP00000410374:R331Q;ENSP00000441108:R291Q;ENSP00000385750:R331Q	ENSP00000354541:R291Q	R	+	2	0	NLGN1	175479357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGA		0.358	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		43	236	0	0	0	1	0	43	236				
REC8	9985	broad.mit.edu	37	14	24646361	24646361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646361G>A	ENST00000311457.3	+	9	1235	c.636G>A	c.(634-636)gaG>gaA	p.E212E	REC8_ENST00000559919.1_Silent_p.E212E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	212	Glu-rich.				double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GTGAACGGGAGCTCCCAGAGG	0.557																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(634-636)gaG>gaA		REC8 meiotic recombination protein							50.0	55.0	53.0					14																	24646361		1884	4109	5993	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24646361G>A	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.636G>A	14.37:g.24646361G>A						REC8_ENST00000559919.1_Silent_p.E212E	p.E212E			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	9	1235	+			212			Glu-rich.		A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.636G>A	CCDS41932.1																																																																																				0.557	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		59	315	0	0	0	1	0	59	315				
MAATS1	89876	broad.mit.edu	37	3	119427480	119427480	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119427480T>G	ENST00000273390.5	+	4	479	c.402T>G	c.(400-402)gaT>gaG	p.D134E	MAATS1_ENST00000463700.1_Missense_Mutation_p.D134E	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	134						mitochondrion (GO:0005739)											TTTATGAAGATCCTGAAGTTA	0.289																																						ENST00000273390.5																			0											c.(400-402)gaT>gaG		MYCBP-associated, testis expressed 1							55.0	61.0	59.0					3																	119427480		2202	4290	6492	SO:0001583	missense	89876							g.chr3:119427480T>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.402T>G	3.37:g.119427480T>G	ENSP00000273390:p.Asp134Glu					MAATS1_ENST00000463700.1_Missense_Mutation_p.D134E	p.D134E	NM_033364.3	NP_203528.2					4	479	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.402T>G	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.605122	0.28623	.	.	ENSG00000183833	ENST00000383667;ENST00000273390;ENST00000463700	T;T	0.44083	1.95;0.93	5.98	3.67	0.42095	.	0.276819	0.40818	N	0.001016	T	0.57051	0.2027	M	0.65975	2.015	0.27480	N	0.952606	B;P;D;D;D	0.89917	0.087;0.532;0.996;0.996;1.0	B;B;D;D;D	0.77557	0.108;0.122;0.946;0.99;0.974	T	0.46034	-0.9220	10	0.33940	T	0.23	-0.2104	10.004	0.41946	0.0:0.1242:0.0:0.8758	.	134;72;134;134;134	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	E	134	ENSP00000273390:D134E;ENSP00000419489:D134E	ENSP00000273390:D134E	D	+	3	2	C3orf15	120910170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.310000	0.33551	2.289000	0.77006	0.533000	0.62120	GAT		0.289	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		15	201	0	0	0	1	0	15	201				
SNX14	57231	broad.mit.edu	37	6	86223854	86223854	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86223854G>T	ENST00000314673.3	-	25	2667	c.2491C>A	c.(2491-2493)Ctt>Att	p.L831I	SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I|SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	831					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTACACTGAAGATAGTAATCA	0.383																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(2491-2493)Ctt>Att		sorting nexin 14							108.0	112.0	110.0					6																	86223854		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86223854G>T	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2491C>A	6.37:g.86223854G>T	ENSP00000313121:p.Leu831Ile					SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I|SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I	p.L831I	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	25	2667	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	831					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.2491C>A	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264596	0.40095	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	6.03	5.15	0.70609	Sorting nexin, C-terminal (1);	0.124399	0.56097	N	0.000029	T	0.05777	0.0151	N	0.21448	0.665	0.45899	D	0.998745	B;B;B;B	0.15473	0.007;0.013;0.009;0.007	B;B;B;B	0.19148	0.007;0.024;0.02;0.011	T	0.23940	-1.0174	10	0.02654	T	1	-7.3699	7.0157	0.24887	0.1384:0.0:0.7116:0.15	.	822;778;831;779	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	I	778;831;550;779;822;749	ENSP00000257769:L778I;ENSP00000313121:L831I;ENSP00000420938:L550I;ENSP00000427380:L779I;ENSP00000358641:L822I;ENSP00000425630:L749I	ENSP00000313121:L831I	L	-	1	0	SNX14	86280573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.655000	0.46707	1.532000	0.49169	0.555000	0.69702	CTT		0.383	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		20	315	1	0	1.01871e-10	1	1.082e-10	20	315				
RERE	473	broad.mit.edu	37	1	8418946	8418946	+	Missense_Mutation	SNP	G	G	A	rs202220461	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8418946G>A	ENST00000337907.3	-	21	4283	c.3649C>T	c.(3649-3651)Ctc>Ttc	p.L1217F	RERE_ENST00000377464.1_Missense_Mutation_p.L949F|RERE_ENST00000476556.1_Missense_Mutation_p.L663F|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.L1217F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1217					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTCACTGAGGCGACCTTCA	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		15858	0.002		0.0	False		,,,				2504	0.0					ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3649-3651)Ctc>Ttc		arginine-glutamic acid dipeptide (RE) repeats							80.0	78.0	79.0					1																	8418946		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418946G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3649C>T	1.37:g.8418946G>A	ENSP00000338629:p.Leu1217Phe					RERE_ENST00000377464.1_Missense_Mutation_p.L949F|RERE_ENST00000476556.1_Missense_Mutation_p.L663F|RERE_ENST00000400908.2_Missense_Mutation_p.L1217F|RERE_ENST00000400907.2_Intron	p.L1217F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4283	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1217					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3649C>T	CCDS95.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	13.97	2.396681	0.42512	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.48201	0.82;0.82;0.82	5.46	5.46	0.80206	.	.	.	.	.	T	0.52224	0.1721	L	0.42245	1.32	0.53688	D	0.999977	D	0.76494	0.999	D	0.73708	0.981	T	0.46091	-0.9216	9	0.18276	T	0.48	-30.6131	18.6671	0.91495	0.0:0.0:1.0:0.0	.	1217	Q9P2R6	RERE_HUMAN	F	1217;949;663;1217	ENSP00000338629:L1217F;ENSP00000366684:L949F;ENSP00000383700:L1217F	ENSP00000338629:L1217F	L	-	1	0	RERE	8341533	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	6.584000	0.74057	2.713000	0.92767	0.655000	0.94253	CTC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			50	533	0	0	0	1	0	50	533				
KIF20B	9585	broad.mit.edu	37	10	91498777	91498777	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91498777G>T	ENST00000371728.3	+	21	3904	c.3839G>T	c.(3838-3840)aGg>aTg	p.R1280M	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M|KIF20B_ENST00000416354.1_Missense_Mutation_p.R1310M|KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1280					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATCTTCAGAGGAAGGAAGAA	0.383																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(3928-3930)aGg>aTg		kinesin family member 20B							99.0	101.0	100.0					10																	91498777		2202	4300	6502	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91498777G>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3839G>T	10.37:g.91498777G>T	ENSP00000360793:p.Arg1280Met					KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M|KIF20B_ENST00000371728.3_Missense_Mutation_p.R1280M|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M|KIF20B_ENST00000478929.1_3'UTR	p.R1310M			Q96Q89	KI20B_HUMAN			21	4001	+			1280					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.3929G>T		.	.	.	.	.	.	.	.	.	.	G	18.21	3.574020	0.65765	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.80123	-1.23;-1.26;-1.34;-1.27	5.23	2.29	0.28610	.	0.213968	0.32055	N	0.006641	D	0.86285	0.5896	M	0.65498	2.005	0.41534	D	0.988475	D;D	0.89917	0.999;1.0	D;D	0.68943	0.915;0.961	D	0.85586	0.1243	10	0.72032	D	0.01	-4.1044	11.1185	0.48275	0.2074:0.0:0.7926:0.0	.	1280;1240	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	M	1240;1310;1280;1280	ENSP00000260753:R1240M;ENSP00000411545:R1310M;ENSP00000377830:R1280M;ENSP00000360793:R1280M	ENSP00000260753:R1240M	R	+	2	0	KIF20B	91488757	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.769000	0.55303	0.275000	0.22094	0.591000	0.81541	AGG		0.383	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		51	224	1	0	1.19451e-25	1	1.37202e-25	51	224				
ZNF532	55205	broad.mit.edu	37	18	56586899	56586899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56586899G>A	ENST00000336078.4	+	4	2156	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	ZNF532_ENST00000589288.1_Silent_p.T460T|ZNF532_ENST00000591230.1_Silent_p.T460T|ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000591083.1_Silent_p.T460T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGTGAAGACGGCAGGATCCC	0.547																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1378-1380)acG>acA		zinc finger protein 532																																				SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586899G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1380G>A	18.37:g.56586899G>A						ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000589288.1_Silent_p.T460T|ZNF532_ENST00000591083.1_Silent_p.T460T|ZNF532_ENST00000591230.1_Silent_p.T460T	p.T460T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	2156	+			460					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.1380G>A	CCDS11969.1																																																																																				0.547	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		33	196	0	0	0	1	0	33	196				
PLXNB2	23654	broad.mit.edu	37	22	50728347	50728347	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728347C>T	ENST00000449103.1	-	3	807	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K			O15031	PLXB2_HUMAN	plexin B2	223	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCGTCCTCGAAGGCCGCC	0.622																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(667-669)Gag>Aag		plexin B2							58.0	65.0	63.0					22																	50728347		2120	4231	6351	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728347C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.667G>A	22.37:g.50728347C>T	ENSP00000409171:p.Glu223Lys					PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K	p.E223K			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	807	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	223			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.667G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640349	0.47153	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.04758	3.56;3.56;3.56	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	D	0.000026	T	0.04998	0.0134	L	0.37897	1.145	0.44149	D	0.996942	B	0.29162	0.235	B	0.25140	0.058	T	0.38394	-0.9663	10	0.08837	T	0.75	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	223	O15031	PLXB2_HUMAN	K	223	ENSP00000409171:E223K;ENSP00000352288:E223K;ENSP00000392620:E223K	ENSP00000352288:E223K	E	-	1	0	PLXNB2	49070474	0.950000	0.32346	0.991000	0.47740	0.926000	0.56050	2.585000	0.46111	2.391000	0.81399	0.462000	0.41574	GAG		0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		61	272	0	0	0	1	0	61	272				
CRB2	286204	broad.mit.edu	37	9	126132468	126132468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132468G>A	ENST00000373631.3	+	7	1137	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	CRB2_ENST00000373629.2_Missense_Mutation_p.G47D|CRB2_ENST00000359999.3_Missense_Mutation_p.G379D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	379	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACTGTGGCAGGCTATATCTGC	0.627																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1135-1137)gGc>gAc		crumbs homolog 2 (Drosophila)							49.0	52.0	51.0					9																	126132468		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132468G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1136G>A	9.37:g.126132468G>A	ENSP00000362734:p.Gly379Asp					CRB2_ENST00000359999.3_Missense_Mutation_p.G379D|CRB2_ENST00000373629.2_Missense_Mutation_p.G47D	p.G379D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1137	+			379			EGF-like 8; calcium-binding (Potential).		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1136G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	0.707	-0.788613	0.02884	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92965	-2.27;-2.27;-3.14	4.86	2.63	0.31362	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.209127	0.24215	N	0.040488	D	0.86590	0.5969	M	0.67953	2.075	0.32023	N	0.600576	B;B	0.12013	0.005;0.005	B;B	0.14578	0.005;0.011	T	0.74985	-0.3477	10	0.14656	T	0.56	.	2.3514	0.04284	0.2896:0.3183:0.392:0.0	.	379;379	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	D	379;379;47	ENSP00000353092:G379D;ENSP00000362734:G379D;ENSP00000362732:G47D	ENSP00000353092:G379D	G	+	2	0	CRB2	125172289	0.978000	0.34361	0.979000	0.43373	0.061000	0.15899	0.925000	0.28791	0.978000	0.38470	0.448000	0.29417	GGC		0.627	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		57	247	0	0	0	1	0	57	247				
MN1	4330	broad.mit.edu	37	22	28193583	28193583	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193583G>A	ENST00000302326.4	-	1	3903	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	983					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGACGGCTGCGCCTGACGCTT	0.706			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2947-2949)ggC>ggT		meningioma (disrupted in balanced translocation) 1							8.0	11.0	10.0					22																	28193583		1947	4053	6000	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193583G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2949C>T	22.37:g.28193583G>A							p.G983G	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3903	-			983					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2949C>T	CCDS42998.1																																																																																				0.706	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		27	127	0	0	0	1	0	27	127				
CCDC40	55036	broad.mit.edu	37	17	78032408	78032408	+	Silent	SNP	C	C	T	rs145013523	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032408C>T	ENST00000397545.4	+	8	1302	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	CCDC40_ENST00000374877.3_Silent_p.A425A|CCDC40_ENST00000269318.5_Silent_p.A425A|CCDC40_ENST00000374876.4_Silent_p.A425A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	425					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TAAAGAAGGCCGAGACGGAGA	0.498													C|||	13	0.00259585	0.0098	0.0	5008	,	,		21412	0.0		0.0	False		,,,				2504	0.0					ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1273-1275)gcC>gcT		coiled-coil domain containing 40		C		16,4142		0,16,2063	64.0	69.0	67.0		1275	-9.4	0.0	17	dbSNP_134	67	2,8412		0,2,4205	no	coding-synonymous	CCDC40	NM_017950.3		0,18,6268	TT,TC,CC		0.0238,0.3848,0.1432		425/1143	78032408	18,12554	2079	4207	6286	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78032408C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1275C>T	17.37:g.78032408C>T						CCDC40_ENST00000269318.5_Silent_p.A425A|CCDC40_ENST00000374876.4_Silent_p.A425A|CCDC40_ENST00000374877.3_Silent_p.A425A	p.A425A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		8	1302	+	all_neural(118;0.167)		425					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.1275C>T	CCDS42395.1																																																																																				0.498	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		31	199	0	0	0	1	0	31	199				
TEAD3	7005	broad.mit.edu	37	6	35443205	35443205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35443205A>G	ENST00000402886.3	-	10	1075	c.922T>C	c.(922-924)Tgc>Cgc	p.C308R	TEAD3_ENST00000338863.7_Missense_Mutation_p.C368R			Q99594	TEAD3_HUMAN	TEA domain family member 3	368	Transcriptional activation. {ECO:0000255}.				female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ATGTACTCGCACATGGGCGAG	0.557																																						ENST00000338863.7																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(1102-1104)Tgc>Cgc		TEA domain family member 3							99.0	97.0	98.0					6																	35443205		2203	4300	6503	SO:0001583	missense	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35443205A>G	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.922T>C	6.37:g.35443205A>G	ENSP00000384577:p.Cys308Arg					TEAD3_ENST00000402886.3_Missense_Mutation_p.C308R	p.C368R	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN			12	1329	-			368			Transcriptional activation (Potential).		O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	37	c.1102T>C		.	.	.	.	.	.	.	.	.	.	A	21.0	4.076978	0.76415	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905	T;T	0.32988	1.43;1.43	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.73575	-0.3939	10	0.87932	D	0	-32.1485	14.5092	0.67772	1.0:0.0:0.0:0.0	.	308;384;368	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	R	368;308;384	ENSP00000345772:C368R;ENSP00000384577:C308R	ENSP00000345772:C368R	C	-	1	0	TEAD3	35551183	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.265000	0.95647	2.023000	0.59567	0.374000	0.22700	TGC		0.557	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			30	312	0	0	0	1	0	30	312				
GAPDHS	26330	broad.mit.edu	37	19	36029283	36029283	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36029283C>A	ENST00000222286.4	+	3	436	c.320C>A	c.(319-321)cCa>cAa	p.P107Q	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	107					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGAATGATCCATTCATTGAC	0.582																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(319-321)cCa>cAa		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						89.0	63.0	72.0					19																	36029283		2203	4300	6503	SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36029283C>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.320C>A	19.37:g.36029283C>A	ENSP00000222286:p.Pro107Gln						p.P107Q	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	436	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		107					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	c.320C>A	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960297	0.92791	.	.	ENSG00000105679	ENST00000222286	T	0.30182	1.54	5.3	5.3	0.74995	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80079	-0.1532	10	0.87932	D	0	-13.3742	16.4475	0.83942	0.0:1.0:0.0:0.0	.	107	O14556	G3PT_HUMAN	Q	107	ENSP00000222286:P107Q	ENSP00000222286:P107Q	P	+	2	0	GAPDHS	40721123	1.000000	0.71417	0.890000	0.34922	0.957000	0.61999	7.745000	0.85046	2.450000	0.82876	0.655000	0.94253	CCA		0.582	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		24	119	1	0	7.33532e-06	1	7.53121e-06	24	119				
EXOC5	10640	broad.mit.edu	37	14	57713495	57713495	+	Missense_Mutation	SNP	C	C	A	rs199805336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57713495C>A	ENST00000413566.2	-	3	563	c.204G>T	c.(202-204)gaG>gaT	p.E68D	EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D|EXOC5_ENST00000556911.1_5'UTR	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	68					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GACATTGTTGCTCTAGTTTCT	0.343																																						ENST00000413566.2																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(202-204)gaG>gaT		exocyst complex component 5							141.0	138.0	139.0					14																	57713495		1831	4082	5913	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57713495C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.204G>T	14.37:g.57713495C>A	ENSP00000389934:p.Glu68Asp					EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D|EXOC5_ENST00000556911.1_5'UTR	p.E68D	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			3	563	-			68					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.204G>T	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945497	0.73672	.	.	ENSG00000070367	ENST00000413566;ENST00000340918;ENST00000556318	T;T	0.55588	0.69;0.51	5.17	-0.086	0.13683	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.68317	2.08	0.21064	N	0.999797	D;D	0.63880	0.99;0.993	D;D	0.73380	0.98;0.967	T	0.57300	-0.7835	10	0.09084	T	0.74	-13.5718	10.5882	0.45294	0.0:0.5358:0.0:0.4642	.	68;68	F8W9B8;O00471	.;EXOC5_HUMAN	D	68;68;13	ENSP00000389934:E68D;ENSP00000342100:E68D	ENSP00000342100:E68D	E	-	3	2	EXOC5	56783248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.963000	0.29293	0.024000	0.15214	0.650000	0.86243	GAG		0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		20	434	1	0	4.35082e-09	1	4.56966e-09	20	434				
FLRT2	23768	broad.mit.edu	37	14	86088565	86088565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86088565C>T	ENST00000330753.4	+	2	1474	c.707C>T	c.(706-708)tCa>tTa	p.S236L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	236					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGGAATTTTCAATTGTACGT	0.517																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(706-708)tCa>tTa		fibronectin leucine rich transmembrane protein 2							86.0	86.0	86.0					14																	86088565		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088565C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.707C>T	14.37:g.86088565C>T	ENSP00000332879:p.Ser236Leu					FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	p.S236L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1474	+			236					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.707C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989031	0.74589	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57107	0.42;0.42	5.78	5.78	0.91487	.	0.057139	0.64402	D	0.000001	T	0.44623	0.1302	N	0.21097	0.63	0.80722	D	1	P	0.48089	0.905	B	0.43728	0.429	T	0.21484	-1.0244	10	0.19590	T	0.45	-14.9232	20.0026	0.97425	0.0:1.0:0.0:0.0	.	236	O43155	FLRT2_HUMAN	L	236	ENSP00000332879:S236L;ENSP00000451050:S236L	ENSP00000332879:S236L	S	+	2	0	FLRT2	85158318	1.000000	0.71417	0.474000	0.27266	0.730000	0.41778	7.817000	0.86213	2.722000	0.93159	0.650000	0.86243	TCA		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			98	379	0	0	0	1	0	98	379				
KCNK6	9424	broad.mit.edu	37	19	38817849	38817849	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817849G>T	ENST00000263372.3	+	3	855	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	250					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATGGTGCTGGTGCT	0.632																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(748-750)Gtg>Ttg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						67.0	49.0	55.0					19																	38817849		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817849G>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.748G>T	19.37:g.38817849G>T	ENSP00000263372:p.Val250Leu						p.V250L	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		3	855	+	all_cancers(60;5.83e-07)		250					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.748G>T	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	5.208	0.223951	0.09863	.	.	ENSG00000099337	ENST00000263372	T	0.27557	1.66	5.44	2.1	0.27182	Ion transport 2 (1);	0.377738	0.29868	N	0.010997	T	0.12646	0.0307	N	0.12961	0.28	0.31977	N	0.606432	B	0.12013	0.005	B	0.16289	0.015	T	0.28586	-1.0039	10	0.07644	T	0.81	.	4.5908	0.12306	0.2784:0.16:0.5616:0.0	.	250	Q9Y257	KCNK6_HUMAN	L	250	ENSP00000263372:V250L	ENSP00000263372:V250L	V	+	1	0	KCNK6	43509689	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.570000	0.23653	0.246000	0.21394	0.555000	0.69702	GTG		0.632	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		39	310	1	0	2.19489e-29	1	2.56362e-29	39	310				
BRWD3	254065	broad.mit.edu	37	X	79932771	79932771	+	Missense_Mutation	SNP	A	A	C	rs369153163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932771A>C	ENST00000373275.4	-	41	4962	c.4746T>G	c.(4744-4746)gaT>gaG	p.D1582E	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1582					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ccatgttttcatcttcttctG	0.403																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4744-4746)gaT>gaG		bromodomain and WD repeat domain containing 3							47.0	42.0	43.0					X																	79932771		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932771A>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4746T>G	X.37:g.79932771A>C	ENSP00000362372:p.Asp1582Glu					BRWD3_ENST00000473691.1_5'UTR	p.D1582E	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	4962	-			1582					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4746T>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	4.040	0.005016	0.07866	.	.	ENSG00000165288	ENST00000373275	T	0.52057	0.68	4.28	1.79	0.24919	.	0.533748	0.18881	N	0.128578	T	0.27454	0.0674	N	0.22421	0.69	0.26157	N	0.980056	B	0.11235	0.004	B	0.10450	0.005	T	0.16041	-1.0416	9	.	.	.	-7.9796	5.2779	0.15659	0.7522:0.0:0.0889:0.1589	.	1582	Q6RI45	BRWD3_HUMAN	E	1582	ENSP00000362372:D1582E	.	D	-	3	2	BRWD3	79819427	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.614000	0.24314	0.074000	0.16767	0.412000	0.27726	GAT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		68	193	0	0	0	1	0	68	193				
ECT2	1894	broad.mit.edu	37	3	172504322	172504322	+	Missense_Mutation	SNP	G	G	A	rs565477429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172504322G>A	ENST00000392692.3	+	18	2041	c.1865G>A	c.(1864-1866)aGc>aAc	p.S622N	ECT2_ENST00000540509.1_Missense_Mutation_p.S622N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000417960.1_Missense_Mutation_p.S590N|ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	622	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCAGACAAAAGCACTTTAGAA	0.308													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16781	0.0		0.0	False		,,,				2504	0.0					ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1768-1770)aGc>aAc		epithelial cell transforming sequence 2 oncogene							72.0	72.0	72.0					3																	172504322		2202	4294	6496	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172504322G>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1865G>A	3.37:g.172504322G>A	ENSP00000376457:p.Ser622Asn					ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000540509.1_Missense_Mutation_p.S622N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N|ECT2_ENST00000392692.3_Missense_Mutation_p.S622N	p.S590N	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		18	2246	+	Ovarian(172;0.00197)|Breast(254;0.158)		591			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1769G>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268507	0.23136	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.95	0.592	0.17471	Dbl homology (DH) domain (2);	0.292888	0.43110	N	0.000613	T	0.33789	0.0875	N	0.17345	0.48	0.27977	N	0.936193	B;B;B;B;B	0.11235	0.0;0.001;0.002;0.004;0.001	B;B;B;B;B	0.10450	0.002;0.003;0.005;0.005;0.003	T	0.03818	-1.1001	10	0.19147	T	0.46	-3.4038	0.7728	0.01027	0.3007:0.1087:0.3432:0.2474	.	622;67;622;591;590	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	N	591;622;591;590;591;622	ENSP00000232458:S591N;ENSP00000376457:S622N;ENSP00000401910:S591N;ENSP00000415876:S590N;ENSP00000412259:S591N;ENSP00000443160:S622N	ENSP00000232458:S591N	S	+	2	0	ECT2	173987016	0.832000	0.29368	1.000000	0.80357	0.992000	0.81027	0.481000	0.22260	0.432000	0.26286	-0.145000	0.13849	AGC		0.308	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		21	119	0	0	0	1	0	21	119				
ANKRD17	26057	broad.mit.edu	37	4	73986015	73986015	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73986015A>G	ENST00000358602.4	-	21	4005	c.3889T>C	c.(3889-3891)Tat>Cat	p.Y1297H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1297					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTCCGCATATCCACCAGAG	0.428																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(3889-3891)Tat>Cat		ankyrin repeat domain 17							82.0	77.0	79.0					4																	73986015		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73986015A>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3889T>C	4.37:g.73986015A>G	ENSP00000351416:p.Tyr1297His					ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H	p.Y1297H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		21	4005	-	Breast(15;0.000295)		1297					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.3889T>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480170	0.63849	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.61742	0.08;0.08;0.08	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000011	T	0.46014	0.1371	N	0.00859	-1.14	0.53688	D	0.999977	B;D;D;D;D	0.89917	0.384;0.999;0.999;0.999;1.0	P;D;D;D;D	0.91635	0.808;0.996;0.996;0.998;0.999	T	0.59182	-0.7502	10	0.13108	T	0.6	.	15.9332	0.79683	1.0:0.0:0.0:0.0	.	818;1296;1046;1297;1184	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1297;1046;1184	ENSP00000351416:Y1297H;ENSP00000332265:Y1046H;ENSP00000427151:Y1184H	ENSP00000332265:Y1046H	Y	-	1	0	ANKRD17	74204879	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.164000	0.68074	0.477000	0.44152	TAT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		63	242	0	0	0	1	0	63	242				
OR10J3	441911	broad.mit.edu	37	1	159283813	159283813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283813C>T	ENST00000332217.5	-	1	636	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGACCAGGCCCATAGGTAGA	0.502																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(637-639)Ggc>Agc		olfactory receptor, family 10, subfamily J, member 3							164.0	147.0	152.0					1																	159283813		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283813C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.637G>A	1.37:g.159283813C>T	ENSP00000331789:p.Gly213Ser						p.G213S	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	636	-	all_hematologic(112;0.0429)		213						Missense_Mutation	SNP	ENST00000332217.5	37	c.637G>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	0.800	-0.755732	0.03019	.	.	ENSG00000196266	ENST00000332217	T	0.36157	1.27	5.2	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.833010	0.09760	N	0.759438	T	0.05502	0.0145	N	0.10618	0.005	0.09310	N	0.999999	B	0.16603	0.018	B	0.21360	0.034	T	0.41893	-0.9483	10	0.27785	T	0.31	.	4.3199	0.11011	0.2964:0.5294:0.0:0.1742	.	213	Q5JRS4	O10J3_HUMAN	S	213	ENSP00000331789:G213S	ENSP00000331789:G213S	G	-	1	0	OR10J3	157550437	0.000000	0.05858	0.043000	0.18650	0.020000	0.10135	-0.119000	0.10676	0.029000	0.15352	0.561000	0.74099	GGC		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			74	479	0	0	0	1	0	74	479				
KIAA1109	84162	broad.mit.edu	37	4	123258084	123258084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258084C>A	ENST00000264501.4	+	71	12432	c.12059C>A	c.(12058-12060)cCt>cAt	p.P4020H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H			Q2LD37	K1109_HUMAN	KIAA1109	4020					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATACCAGATCCTATGGAAGAA	0.358																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(12058-12060)cCt>cAt		KIAA1109							216.0	185.0	195.0					4																	123258084		1876	4111	5987	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123258084C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12059C>A	4.37:g.123258084C>A	ENSP00000264501:p.Pro4020His					KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H	p.P4020H			Q2LD37	K1109_HUMAN			71	12432	+			4020					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.12059C>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.601491|2.601491	0.46423|0.46423	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30981	.|2.52;2.52;1.51	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.222299	.|0.39020	.|N	.|0.001488	T|T	0.37320|0.37320	0.0999|0.0999	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46656	.|0.882;0.813	.|P;P	.|0.51615	.|0.675;0.476	T|T	0.02232|0.02232	-1.1191|-1.1191	5|10	.|0.27785	.|T	.|0.31	.|.	15.538|15.538	0.76018|0.76018	0.1385:0.8615:0.0:0.0|0.1385:0.8615:0.0:0.0	.|.	.|4019;4020	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	I|H	396|4020;4020;689	.|ENSP00000264501:P4020H;ENSP00000373390:P4020H;ENSP00000410874:P689H	.|ENSP00000264501:P4020H	L|P	+|+	1|2	2|0	KIAA1109|KIAA1109	123477534|123477534	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.864000|3.864000	0.56024|0.56024	2.530000|2.530000	0.85305|0.85305	0.467000|0.467000	0.42956|0.42956	CTA|CCT		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		31	315	1	0	2.81731e-10	1	2.98404e-10	31	315				
NME8	51314	broad.mit.edu	37	7	37927933	37927933	+	Silent	SNP	C	C	T	rs369550926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37927933C>T	ENST00000199447.4	+	15	1674	c.1302C>T	c.(1300-1302)agC>agT	p.S434S	NME8_ENST00000440017.1_Silent_p.S434S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	434	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGTATGGCAGCGATTCATTAG	0.393																																						ENST00000199447.4																			0											c.(1300-1302)agC>agT		NME/NM23 family member 8		C		0,4406		0,0,2203	97.0	93.0	94.0		1302	-2.2	0.0	7		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TXNDC3	NM_016616.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		434/589	37927933	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37927933C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1302C>T	7.37:g.37927933C>T						NME8_ENST00000440017.1_Silent_p.S434S|EPDR1_ENST00000476620.1_Intron	p.S434S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			15	1674	+			434			NDK 2.		Q9NZH1	Silent	SNP	ENST00000199447.4	37	c.1302C>T	CCDS5452.1																																																																																				0.393	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		8	326	0	0	0	1	0	8	326				
IRS4	8471	broad.mit.edu	37	X	107978100	107978100	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107978100T>A	ENST00000372129.2	-	1	1551	c.1475A>T	c.(1474-1476)aAt>aTt	p.N492I	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	492					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGAGCCCCAATTGTTCATAGG	0.572																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1474-1476)aAt>aTt		insulin receptor substrate 4							131.0	122.0	125.0					X																	107978100		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978100T>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1475A>T	X.37:g.107978100T>A	ENSP00000361202:p.Asn492Ile						p.N492I	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1551	-			492						Missense_Mutation	SNP	ENST00000372129.2	37	c.1475A>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819291	0.32145	.	.	ENSG00000133124	ENST00000372129	T	0.36520	1.25	4.2	3.03	0.35002	.	0.406336	0.24523	N	0.037795	T	0.22282	0.0537	N	0.24115	0.695	0.27948	N	0.937263	B	0.25312	0.123	B	0.24006	0.05	T	0.13124	-1.0521	10	0.45353	T	0.12	-3.4817	7.3493	0.26680	0.0:0.1108:0.0:0.8892	.	492	O14654	IRS4_HUMAN	I	492	ENSP00000361202:N492I	ENSP00000361202:N492I	N	-	2	0	IRS4	107864756	0.029000	0.19370	0.977000	0.42913	0.954000	0.61252	0.552000	0.23376	0.754000	0.32968	0.483000	0.47432	AAT		0.572	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		180	577	0	0	0	1	0	180	577				
COCH	1690	broad.mit.edu	37	14	31355162	31355162	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355162G>T	ENST00000396618.3	+	11	1177	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000460581.2_Missense_Mutation_p.G262V|COCH_ENST00000475087.1_Missense_Mutation_p.G374V|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.G225V	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	374	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTAATTGATGGCTCCAGCAGT	0.423																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(784-786)gGc>gTc		cochlin							101.0	86.0	91.0					14																	31355162		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355162G>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1121G>T	14.37:g.31355162G>T	ENSP00000379862:p.Gly374Val					COCH_ENST00000475087.1_Missense_Mutation_p.G374V|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000396618.3_Missense_Mutation_p.G374V|COCH_ENST00000382493.4_Missense_Mutation_p.G225V	p.G262V			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1331	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		374			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.785G>T	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.713168|4.713168	0.89112|0.89112	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000468826|ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	.|D;D;D;D;D	.|0.84370	.|-1.84;-1.84;-1.84;-1.84;-1.84	6.02|6.02	6.02|6.02	0.97574|0.97574	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94525|0.94525	0.8237|0.8237	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.94690|0.94690	0.7873|0.7873	5|10	.|0.87932	.|D	.|0	-14.0876|-14.0876	20.547|20.547	0.99278|0.99278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225;374;374	.|E7EN67;Q96IU6;O43405	.|.;.;COCH_HUMAN	S|V	258|374;374;374;262;225	.|ENSP00000216361:G374V;ENSP00000379862:G374V;ENSP00000451528:G374V;ENSP00000451713:G262V;ENSP00000371933:G225V	.|ENSP00000216361:G374V	A|G	+|+	1|2	0|0	COCH|COCH	30424913|30424913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.827000|9.827000	0.99397|0.99397	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.423	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		55	295	1	0	2.01807e-28	1	2.34828e-28	55	295				
ZNF783	100289678	broad.mit.edu	37	7	148978788	148978788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148978788G>A	ENST00000434415.1	+	6	1158	c.995G>A	c.(994-996)gGg>gAg	p.G332E	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGCCACCGGGGGCCAGTGGG	0.721																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(994-996)gGg>gAg		zinc finger family member 783							7.0	9.0	8.0					7																	148978788		1762	3898	5660	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148978788G>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.995G>A	7.37:g.148978788G>A	ENSP00000410890:p.Gly332Glu					ZNF783_ENST00000489518.1_Intron	p.G332E	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		6	1158	+	Melanoma(164;0.15)		332					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.995G>A	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295454	0.40594	.	.	ENSG00000204946	ENST00000434415	T	0.05199	3.48	4.79	1.72	0.24424	.	.	.	.	.	T	0.03695	0.0105	L	0.34521	1.04	0.09310	N	1	.	.	.	.	.	.	T	0.43196	-0.9406	7	0.05436	T	0.98	.	3.8412	0.08915	0.1017:0.1558:0.5706:0.1719	.	.	.	.	E	332	ENSP00000410890:G332E	ENSP00000410890:G332E	G	+	2	0	ZNF783	148609721	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.965000	0.03829	0.520000	0.28426	0.655000	0.94253	GGG		0.721	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		29	115	0	0	0	1	0	29	115				
NKX2-4	644524	broad.mit.edu	37	20	21376850	21376850	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21376850T>G	ENST00000351817.4	-	2	1392	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	255					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CTGCTGCAGCTGCTGCGCCGC	0.701																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(763-765)cAg>cCg		NK2 homeobox 4							21.0	20.0	20.0					20																	21376850		2199	4300	6499	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376850T>G		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.764A>C	20.37:g.21376850T>G	ENSP00000345147:p.Gln255Pro						p.Q255P	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			2	1392	-			255					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.764A>C	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497531	0.44455	.	.	ENSG00000125816	ENST00000351817	D	0.92099	-2.97	3.6	2.42	0.29668	.	0.000000	0.38663	U	0.001620	D	0.92028	0.7474	L	0.60455	1.87	0.47994	D	0.99956	D	0.53885	0.963	P	0.55785	0.784	D	0.88340	0.2974	10	0.30854	T	0.27	.	9.2714	0.37673	0.0:0.0:0.1828:0.8172	.	255	Q9H2Z4	NKX24_HUMAN	P	255	ENSP00000345147:Q255P	ENSP00000345147:Q255P	Q	-	2	0	NKX2-4	21324850	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.288000	0.78691	0.402000	0.25451	0.397000	0.26171	CAG		0.701	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			15	59	0	0	0	1	0	15	59				
SCRN1	9805	broad.mit.edu	37	7	29983760	29983760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983760G>T	ENST00000426154.1	-	4	553	c.377C>A	c.(376-378)gCc>gAc	p.A126D	SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000434476.2_Missense_Mutation_p.A146D|SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D|SCRN1_ENST00000425819.2_Missense_Mutation_p.A58D|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	126					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GACATCTAAGGCTTCTTTAGC	0.423																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(376-378)gCc>gAc		secernin 1							116.0	104.0	108.0					7																	29983760		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29983760G>T	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.377C>A	7.37:g.29983760G>T	ENSP00000409068:p.Ala126Asp					SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D	p.A126D	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			4	553	-			126					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.377C>A	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281032	0.95489	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434;ENST00000438497	T;T;T;T;T;T;T;T	0.56103	1.67;1.67;1.67;1.67;1.88;1.67;1.67;0.48	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.82421	0.5033	H	0.96175	3.78	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87229	0.2259	9	.	.	.	-17.6619	18.9075	0.92469	0.0:0.0:1.0:0.0	.	146;58;126	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	D	126;126;58;126;17;146;126;126	ENSP00000242059:A126D;ENSP00000409068:A126D;ENSP00000414245:A58D;ENSP00000386872:A126D;ENSP00000407460:A17D;ENSP00000388942:A146D;ENSP00000413184:A126D;ENSP00000406289:A126D	.	A	-	2	0	SCRN1	29950285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCC		0.423	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		64	311	1	0	3.07281e-33	1	3.63882e-33	64	311				
USP35	57558	broad.mit.edu	37	11	77921647	77921647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77921647G>T	ENST00000529308.1	+	10	3007	c.2746G>T	c.(2746-2748)Gac>Tac	p.D916Y	USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D647Y|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	916	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCCTAAGGACACAGCCTA	0.582																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2746-2748)Gac>Tac		ubiquitin specific peptidase 35							115.0	111.0	112.0					11																	77921647		1959	4135	6094	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921647G>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2746G>T	11.37:g.77921647G>T	ENSP00000431876:p.Asp916Tyr					USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D647Y|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y	p.D916Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	3007	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		916						Missense_Mutation	SNP	ENST00000529308.1	37	c.2746G>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614634	0.87359	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000007	T	0.55337	0.1914	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.976;1.0	T	0.55418	-0.8144	10	0.49607	T	0.09	-43.9285	18.2591	0.90028	0.0:0.0:1.0:0.0	.	916;502	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Y	484;916;502;647	ENSP00000435468:D484Y;ENSP00000431876:D916Y;ENSP00000400825:D502Y;ENSP00000434942:D647Y	ENSP00000400825:D502Y	D	+	1	0	USP35	77599295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.411000	0.97342	2.539000	0.85634	0.561000	0.74099	GAC		0.582	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		159	599	1	0	3.57155e-81	1	4.56959e-81	159	599				
IKBKE	9641	broad.mit.edu	37	1	206664154	206664154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206664154C>T	ENST00000367120.3	+	17	2069	c.1696C>T	c.(1696-1698)Ctt>Ttt	p.L566F	IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	566	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCCTCCAGGGCTTGGCTACAA	0.542											OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(1696-1698)Ctt>Ttt		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							129.0	112.0	118.0					1																	206664154		2203	4300	6503	SO:0001583	missense	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206664154C>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1696C>T	1.37:g.206664154C>T	ENSP00000356087:p.Leu566Phe		OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	p.L566F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			17	2069	+	Breast(84;0.137)		566					D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1696C>T	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160932	0.78226	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.22945	1.93;1.93	5.61	4.6	0.57074	.	0.114512	0.39544	N	0.001329	T	0.42810	0.1219	M	0.64997	1.995	0.37720	D	0.92488	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.47459	-0.9116	10	0.72032	D	0.01	-0.7411	6.4145	0.21710	0.0:0.8484:0.0:0.1515	.	481;566	Q3B754;Q14164	.;IKKE_HUMAN	F	566;481	ENSP00000356087:L566F;ENSP00000444529:L481F	ENSP00000356087:L566F	L	+	1	0	IKBKE	204730777	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	1.776000	0.38594	2.656000	0.90262	0.655000	0.94253	CTT		0.542	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			48	332	0	0	0	1	0	48	332				
CACNA1C	775	broad.mit.edu	37	12	2795331	2795331	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795331G>T	ENST00000347598.4	+	47	5824		c.e47-1		CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCTTTGCAGGTCGAAGGGC	0.577																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.e45-1		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						72.0	76.0	75.0					12																	2795331		2018	4174	6192	SO:0001630	splice_region_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2795331G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5825-1G>T	12.37:g.2795331G>T						CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site		NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	45	5945	+								B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Splice_Site	SNP	ENST00000347598.4	37		CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861970	0.71949	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4152	0.87498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2665592	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	9.147000	0.94646	2.416000	0.81992	0.460000	0.39030	.		0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	Intron	65	324	1	0	4.45325e-31	1	5.23636e-31	65	324				
RNF152	220441	broad.mit.edu	37	18	59483459	59483459	+	Missense_Mutation	SNP	C	C	T	rs561051015	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59483459C>T	ENST00000312828.3	-	2	1337	c.238G>A	c.(238-240)Gcc>Acc	p.A80T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	80					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TGTGGAATGGCGATGACAGCC	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18371	0.0		0.0	False		,,,				2504	0.0					ENST00000312828.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(238-240)Gcc>Acc		ring finger protein 152							85.0	92.0	90.0					18																	59483459		2203	4300	6503	SO:0001583	missense	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483459C>T	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.238G>A	18.37:g.59483459C>T	ENSP00000316628:p.Ala80Thr						p.A80T	NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN			2	1337	-		Colorectal(73;0.186)	80					B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	37	c.238G>A	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163620	0.57476	.	.	ENSG00000176641	ENST00000312828	D	0.83419	-1.72	4.97	4.97	0.65823	.	0.122835	0.53938	D	0.000044	T	0.69895	0.3162	N	0.12182	0.205	0.49213	D	0.999769	B	0.10296	0.003	B	0.04013	0.001	T	0.64462	-0.6402	10	0.13470	T	0.59	-3.2112	18.4187	0.90579	0.0:1.0:0.0:0.0	.	80	Q8N8N0	RN152_HUMAN	T	80	ENSP00000316628:A80T	ENSP00000316628:A80T	A	-	1	0	RNF152	57634439	0.999000	0.42202	0.997000	0.53966	0.898000	0.52572	4.107000	0.57811	2.600000	0.87896	0.655000	0.94253	GCC		0.637	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		49	293	0	0	0	1	0	49	293				
MAGEC3	139081	broad.mit.edu	37	X	140985426	140985426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140985426G>A	ENST00000298296.1	+	8	1740	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000544766.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	580	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATTCAGAGGCCAGCAAGAG	0.468																																						ENST00000544766.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(988-990)Gcc>Acc		melanoma antigen family C, 3							67.0	69.0	69.0					X																	140985426		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985426G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1740G>A	X.37:g.140985426G>A						MAGEC3_ENST00000298296.1_Silent_p.R580R|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A330T	p.A330T	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN			5	1515	+	Acute lymphoblastic leukemia(192;6.56e-05)		46			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.988G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.000581	0.00431	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	1.25	-0.779	0.10973	.	.	.	.	.	T	0.01592	0.0051	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.23275	0.045	T	0.44742	-0.9308	8	0.02654	T	1	.	3.1264	0.06408	0.6987:0.0:0.3013:0.0	.	330	Q3SYA7	.	T	330;250;330;330	ENSP00000441107:A330T;ENSP00000438254:A250T;ENSP00000440444:A330T;ENSP00000386566:A330T	ENSP00000386566:A330T	A	+	1	0	MAGEC3	140813092	0.002000	0.14202	0.038000	0.18304	0.018000	0.09664	0.015000	0.13355	-0.094000	0.12374	-0.739000	0.03532	GCC		0.468	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		121	429	0	0	0	1	0	121	429				
NEUROD1	4760	broad.mit.edu	37	2	182542881	182542881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182542881C>T	ENST00000295108.3	-	2	1164	c.707G>A	c.(706-708)aGc>aAc	p.S236N	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	236					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GACATGGGAGCTGTCCATGGT	0.627											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(706-708)aGc>aAc		neuronal differentiation 1							63.0	68.0	66.0					2																	182542881		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542881C>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.707G>A	2.37:g.182542881C>T	ENSP00000295108:p.Ser236Asn		OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1977	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.S236N	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1164	-			236					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.707G>A	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.841010	0.32513	.	.	ENSG00000162992	ENST00000295108	T	0.65364	-0.15	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.130034	0.64402	D	0.000002	T	0.52853	0.1760	L	0.31420	0.93	0.47123	D	0.999328	B	0.32968	0.392	B	0.33960	0.173	T	0.45659	-0.9246	10	0.18276	T	0.48	-24.2673	19.1109	0.93315	0.0:1.0:0.0:0.0	.	236	Q13562	NDF1_HUMAN	N	236	ENSP00000295108:S236N	ENSP00000295108:S236N	S	-	2	0	NEUROD1	182251126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.688000	0.46984	2.850000	0.98022	0.650000	0.86243	AGC		0.627	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		104	530	0	0	0	1	0	104	530				
TWSG1	57045	broad.mit.edu	37	18	9359999	9359999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9359999C>T	ENST00000262120.5	+	3	344	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TWSG1_ENST00000581641.1_Silent_p.G51G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	51	Cys-rich.				BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CGGGAGAAGGCAATTGCTCCT	0.443																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(151-153)ggC>ggT		twisted gastrulation BMP signaling modulator 1							116.0	109.0	112.0					18																	9359999		2203	4300	6503	SO:0001819	synonymous_variant	57045							g.chr18:9359999C>T	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.153C>T	18.37:g.9359999C>T						TWSG1_ENST00000581641.1_Silent_p.G51G	p.G51G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			3	344	+			51			Cys-rich.		B2RE08|D3DUH9|Q8NBI7|Q96K46	Silent	SNP	ENST00000262120.5	37	c.153C>T	CCDS11844.1																																																																																				0.443	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			75	297	0	0	0	1	0	75	297				
KCTD6	200845	broad.mit.edu	37	3	58486991	58486991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58486991A>G	ENST00000355076.6	+	2	1329	c.346A>G	c.(346-348)Act>Gct	p.T116A	KCTD6_ENST00000404589.3_Missense_Mutation_p.T116A|KCTD6_ENST00000490264.1_Missense_Mutation_p.T116A	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	116					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TCCCATGGATACTTTTGAAGA	0.418																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(346-348)Act>Gct		potassium channel tetramerization domain containing 6							112.0	105.0	107.0					3																	58486991		2203	4300	6503	SO:0001583	missense	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486991A>G	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.346A>G	3.37:g.58486991A>G	ENSP00000347188:p.Thr116Ala					KCTD6_ENST00000490264.1_Missense_Mutation_p.T116A|KCTD6_ENST00000404589.3_Missense_Mutation_p.T116A	p.T116A	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1329	+			116					B3KNI5|Q8NBS6|Q8TCA6	Missense_Mutation	SNP	ENST00000355076.6	37	c.346A>G	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	A	4.125	0.021343	0.08006	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.59906	0.23;0.23;0.23	5.75	4.59	0.56863	.	0.047779	0.85682	D	0.000000	T	0.33177	0.0854	N	0.08118	0	0.43603	D	0.995964	B	0.06786	0.001	B	0.04013	0.001	T	0.10613	-1.0622	10	0.09084	T	0.74	.	11.8039	0.52143	0.9314:0.0:0.0686:0.0	.	116	Q8NC69	KCTD6_HUMAN	A	116	ENSP00000384948:T116A;ENSP00000417490:T116A;ENSP00000347188:T116A	ENSP00000347188:T116A	T	+	1	0	KCTD6	58462031	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.339000	0.96797	1.002000	0.39104	-0.290000	0.09829	ACT		0.418	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		25	433	0	0	0	1	0	25	433				
FAM192A	80011	broad.mit.edu	37	16	57188214	57188214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57188214G>A	ENST00000309137.8	-	7	1011	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000567439.1_Silent_p.L251L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000566077.1_Silent_p.L174L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	251						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						AGGGGGCCTCGAGGAAGGTGT	0.547																																						ENST00000309137.8																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.(751-753)ctC>ctT		family with sequence similarity 192, member A							55.0	66.0	62.0					16																	57188214		1967	4143	6110	SO:0001819	synonymous_variant	80011					nucleus		g.chr16:57188214G>A		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.753C>T	16.37:g.57188214G>A						FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000566077.1_Silent_p.L174L|FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000567439.1_Silent_p.L251L	p.L251L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			7	1011	-			251						Silent	SNP	ENST00000309137.8	37	c.753C>T	CCDS42168.1																																																																																				0.547	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		29	160	0	0	0	1	0	29	160				
YIPF2	78992	broad.mit.edu	37	19	11034236	11034236	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034236G>T	ENST00000586748.1	-	8	941	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M|YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	257						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGGCCACCAGCCTGGTGTCC	0.692																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(769-771)Ctg>Atg		Yip1 domain family, member 2							40.0	44.0	43.0					19																	11034236		2203	4298	6501	SO:0001583	missense	78992					integral to membrane|transport vesicle		g.chr19:11034236G>T	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.769C>A	19.37:g.11034236G>T	ENSP00000466055:p.Leu257Met					YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M|YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M	p.L257M			Q9BWQ6	YIPF2_HUMAN			8	941	-			257						Missense_Mutation	SNP	ENST00000586748.1	37	c.769C>A	CCDS12251.1	.	.	.	.	.	.	.	.	.	.	G	3.746	-0.052646	0.07362	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.58	-0.291	0.12843	.	0.819276	0.10936	N	0.617763	T	0.15955	0.0384	N	0.04508	-0.205	0.09310	N	1	B	0.20671	0.047	B	0.28465	0.09	T	0.27191	-1.0081	9	0.41790	T	0.15	.	4.2388	0.10638	0.0988:0.3781:0.3913:0.1319	.	257	Q9BWQ6	YIPF2_HUMAN	M	257	.	ENSP00000253031:L257M	L	-	1	2	YIPF2	10895236	0.000000	0.05858	0.005000	0.12908	0.104000	0.19210	-0.256000	0.08757	0.461000	0.27071	0.655000	0.94253	CTG		0.692	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		73	293	1	0	1.77355e-41	1	2.15486e-41	73	293				
PRR14	78994	broad.mit.edu	37	16	30666368	30666368	+	Silent	SNP	G	G	A	rs150232321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666368G>A	ENST00000542965.2	+	7	1533	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	PRR14_ENST00000300835.4_Silent_p.P359P|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	359	Pro-rich.		P -> L (in dbSNP:rs3747481). {ECO:0000269|PubMed:15489334}.							breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GACCACGGCCGCGGCGGCACA	0.701													G|||	10	0.00199681	0.0076	0.0	5008	,	,		12043	0.0		0.0	False		,,,				2504	0.0					ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1075-1077)ccG>ccA		proline rich 14		G		16,4372		0,16,2178	24.0	30.0	28.0		1077	-10.4	0.8	16	dbSNP_134	28	0,8592		0,0,4296	no	coding-synonymous	PRR14	NM_024031.2		0,16,6474	AA,AG,GG		0.0,0.3646,0.1233		359/586	30666368	16,12964	2194	4296	6490	SO:0001819	synonymous_variant	78994							g.chr16:30666368G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1077G>A	16.37:g.30666368G>A						PRR14_ENST00000300835.4_Silent_p.P359P|PRR14_ENST00000571654.1_Intron	p.P359P			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1533	+			359		P -> L (in dbSNP:rs3747481).	Pro-rich.		Q8WTX2	Silent	SNP	ENST00000542965.2	37	c.1077G>A	CCDS10687.1																																																																																				0.701	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		66	360	0	0	0	1	0	66	360				
DIDO1	11083	broad.mit.edu	37	20	61542332	61542332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542332G>A	ENST00000266070.4	-	3	958	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	211					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G211G(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCAGGACGCCCTCCACAG	0.637																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - coding silent(1)	p.G211G(1)	large_intestine(1)	NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(631-633)ggC>ggT		death inducer-obliterator 1							59.0	63.0	62.0					20																	61542332		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542332G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.633C>T	20.37:g.61542332G>A						DIDO1_ENST00000370371.4_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G	p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	958	-	Breast(26;5.68e-08)		211					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.633C>T	CCDS33506.1																																																																																				0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		73	344	0	0	0	1	0	73	344				
ARID1B	57492	broad.mit.edu	37	6	157495196	157495196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157495196C>T	ENST00000350026.5	+	10	3042	c.3041C>T	c.(3040-3042)cCt>cTt	p.P1014L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1027L|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1014					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGCCCCTGCCTCTCAAAGCA	0.498																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3079-3081)cCt>cTt		AT rich interactive domain 1B (SWI1-like)							109.0	100.0	103.0					6																	157495196		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157495196C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3041C>T	6.37:g.157495196C>T	ENSP00000055163:p.Pro1014Leu					ARID1B_ENST00000350026.5_Missense_Mutation_p.P1014L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000478761.1_3'UTR	p.P1027L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	11	3081	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1014					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3080C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852213	0.71719	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.51	5.51	0.81932	.	0.454996	0.24059	N	0.041940	T	0.44932	0.1317	L	0.36672	1.1	0.58432	D	0.999991	P;P;P;P	0.48764	0.465;0.915;0.617;0.465	B;P;B;B	0.45071	0.178;0.468;0.242;0.178	T	0.40213	-0.9575	10	0.39692	T	0.17	.	19.4168	0.94704	0.0:1.0:0.0:0.0	.	264;1014;1027;956	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	1027;1014;1014;956;431;483;436;81	ENSP00000344546:P1027L;ENSP00000055163:P1014L;ENSP00000356116:P1014L;ENSP00000275248:P956L;ENSP00000412835:P483L;ENSP00000313006:P436L;ENSP00000383596:P81L	ENSP00000275248:P956L	P	+	2	0	ARID1B	157536888	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.976000	0.63785	2.601000	0.87937	0.655000	0.94253	CCT		0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		34	250	0	0	0	1	0	34	250				
RAP2C	57826	broad.mit.edu	37	X	131348212	131348212	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131348212G>T	ENST00000342983.2	-	3	1282	c.536C>A	c.(535-537)aCt>aAt	p.T179N	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	179					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GACGACACAAGTTGTACAACA	0.403																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(535-537)aCt>aAt		RAP2C, member of RAS oncogene family							104.0	87.0	93.0					X																	131348212		2203	4299	6502	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131348212G>T	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.536C>A	X.37:g.131348212G>T	ENSP00000340274:p.Thr179Asn					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N	p.T179N	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			3	1282	-	Acute lymphoblastic leukemia(192;0.000127)		179					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.536C>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465942	0.63625	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.66638	-0.22;-0.22	5.75	5.75	0.90469	.	0.153294	0.64402	D	0.000016	T	0.52354	0.1729	N	0.12746	0.255	0.51767	D	0.999935	B	0.19583	0.037	B	0.12156	0.007	T	0.46289	-0.9202	10	0.41790	T	0.15	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	179	Q9Y3L5	RAP2C_HUMAN	N	179	ENSP00000340274:T179N;ENSP00000359911:T179N	ENSP00000340274:T179N	T	-	2	0	RAP2C	131175893	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.424000	0.97464	2.423000	0.82170	0.550000	0.68814	ACT		0.403	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		54	233	1	0	7.89702e-26	1	9.07718e-26	54	233				
FAM159A	348378	broad.mit.edu	37	1	53108559	53108559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53108559C>T	ENST00000517870.1	+	2	357	c.207C>T	c.(205-207)tcC>tcT	p.S69S	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	69						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TAGGCCTGTCCGTAGCAGCAG	0.522																																						ENST00000517870.1																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(205-207)tcC>tcT		family with sequence similarity 159, member A							267.0	258.0	261.0					1																	53108559		2083	4193	6276	SO:0001819	synonymous_variant	348378					integral to membrane		g.chr1:53108559C>T		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.207C>T	1.37:g.53108559C>T						FAM159A_ENST00000401050.3_3'UTR	p.S69S	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN			2	357	+			69					Q6ZRG4	Silent	SNP	ENST00000517870.1	37	c.207C>T	CCDS41336.1																																																																																				0.522	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		253	949	0	0	0	1	0	253	949				
FNDC1	84624	broad.mit.edu	37	6	159672509	159672509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159672509C>T	ENST00000297267.9	+	17	5210	c.5010C>T	c.(5008-5010)tgC>tgT	p.C1670C	FNDC1_ENST00000340366.6_Silent_p.C1607C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1670	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TGGAAGGTTGCCACTCATTTG	0.547																																						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.(5008-5010)tgC>tgT		fibronectin type III domain containing 1							61.0	59.0	60.0					6																	159672509		2045	4202	6247	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159672509C>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.5010C>T	6.37:g.159672509C>T						FNDC1_ENST00000340366.6_Silent_p.C1607C	p.C1670C	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)	17	5210	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1670			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.5010C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126630	0.20959	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.51	3.64	0.41730	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46303	-0.9201	4	.	.	.	-25.3864	9.9334	0.41537	0.0:0.7665:0.0:0.2335	.	.	.	.	S	1566	.	.	P	+	1	0	FNDC1	159592499	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	0.426000	0.21363	1.264000	0.44198	0.585000	0.79938	CCA		0.547	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		17	103	0	0	0	1	0	17	103				
WASH4P	374677	broad.mit.edu	37	16	67019	67019	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67019G>T	ENST00000326592.9	-	5	1275	c.617C>A	c.(616-618)gCt>gAt	p.A206D	Z84812.4_ENST00000568710.1_RNA|DDX11L10_ENST00000513886.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	206					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TACAGCACCAGCCAGGGGGTC	0.567																																						ENST00000326592.9																			0											c.(616-618)gCt>gAt																																						SO:0001583	missense	0							g.chr16:67019G>T			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.617C>A	16.37:g.67019G>T	ENSP00000317542:p.Ala206Asp						p.A206D							5	1275	-									Missense_Mutation	SNP	ENST00000326592.9	37	c.617C>A		.	.	.	.	.	.	.	.	.	.	g	14.48	2.549158	0.45383	.	.	ENSG00000234769	ENST00000326592	.	.	.	0.379	0.379	0.16213	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	.	.	.	0.52501	D	0.99995	.	.	.	.	.	.	T	0.07121	-1.0789	6	0.17832	T	0.49	-2.4675	6.5509	0.22433	2.0E-4:0.0:0.9998:0.0	.	.	.	.	D	206	.	ENSP00000317542:A206D	A	-	2	0	WASH4P	7019	1.000000	0.71417	0.964000	0.40570	0.282000	0.26991	6.832000	0.75329	0.437000	0.26423	0.184000	0.17185	GCT		0.567	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159		6	97	1	0	0.00307968	1	0.00310409	6	97				
IRF2BP2	359948	broad.mit.edu	37	1	234744193	234744193	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234744193C>T	ENST00000366609.3	-	1	1078	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	IRF2BP2_ENST00000366610.3_Intron|IRF2BP2_ENST00000491430.1_5'Flank|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCGCCCCTACCTGCTTTAGAC	0.592																																						ENST00000366609.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.e1+1		interferon regulatory factor 2 binding protein 2							14.0	15.0	15.0					1																	234744193		2195	4291	6486	SO:0001630	splice_region_variant	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234744193C>T	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1048+1G>A	1.37:g.234744193C>T						IRF2BP2_ENST00000366610.3_Intron|RP4-781K5.2_ENST00000436039.1_RNA	p.V350_splice	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		1	1078	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	350					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Splice_Site	SNP	ENST00000366609.3	37	c.1048_splice	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085298	0.55861	.	.	ENSG00000168264	ENST00000366609	T	0.30448	1.53	4.94	4.04	0.47022	.	0.300208	0.33346	N	0.005013	T	0.19327	0.0464	N	0.19112	0.55	0.36995	D	0.894995	B	0.02656	0.0	B	0.04013	0.001	T	0.10613	-1.0622	9	.	.	.	-0.4825	12.9904	0.58616	0.0:0.9211:0.0:0.0789	.	350	Q7Z5L9	I2BP2_HUMAN	I	350	ENSP00000355568:V350I	.	V	-	1	0	IRF2BP2	232810816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.149000	0.64863	1.291000	0.44653	0.655000	0.94253	GTT		0.592	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972	Missense_Mutation	9	71	0	0	0	1	0	9	71				
WDR17	116966	broad.mit.edu	37	4	177069319	177069319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177069319G>A	ENST00000280190.4	+	14	1958	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	WDR17_ENST00000393643.2_Missense_Mutation_p.C577Y|WDR17_ENST00000508596.1_Missense_Mutation_p.C577Y|WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	601										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGGATGCTTGCATCAATATT	0.363																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1729-1731)tGc>tAc		WD repeat domain 17							167.0	164.0	165.0					4																	177069319		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069319G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1802G>A	4.37:g.177069319G>A	ENSP00000280190:p.Cys601Tyr					WDR17_ENST00000280190.4_Missense_Mutation_p.C601Y|WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y|WDR17_ENST00000508596.1_Missense_Mutation_p.C577Y	p.C577Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	1982	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	601					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1730G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471884	0.84533	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.63255	-0.03;-0.03;-0.03	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79497	-0.1779	10	0.49607	T	0.09	-13.2668	19.9915	0.97366	0.0:0.0:1.0:0.0	.	577;601	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	577;577;601;584	ENSP00000422763:C577Y;ENSP00000377258:C577Y;ENSP00000280190:C601Y	ENSP00000280190:C601Y	C	+	2	0	WDR17	177306313	1.000000	0.71417	0.988000	0.46212	0.859000	0.49053	9.085000	0.94083	2.723000	0.93209	0.655000	0.94253	TGC		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			130	525	0	0	0	1	0	130	525				
TBC1D32	221322	broad.mit.edu	37	6	121604969	121604969	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:121604969T>C	ENST00000398212.2	-	13	1509	c.1460A>G	c.(1459-1461)cAt>cGt	p.H487R	TBC1D32_ENST00000275159.6_Missense_Mutation_p.H487R	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	487					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATTACCTGAATGGGCAGCTGA	0.313																																						ENST00000275159.6																			0											c.(1459-1461)cAt>cGt		TBC1 domain family, member 32							69.0	65.0	66.0					6																	121604969		1804	4075	5879	SO:0001583	missense	221322							g.chr6:121604969T>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1460A>G	6.37:g.121604969T>C	ENSP00000381270:p.His487Arg					TBC1D32_ENST00000398212.2_Missense_Mutation_p.H487R	p.H487R							13	1459	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1460A>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	6.435	0.448458	0.12223	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.17691	2.26;2.26	5.1	-0.847	0.10730	.	0.561075	0.17360	N	0.177078	T	0.04588	0.0125	L	0.56769	1.78	0.09310	N	1	B;B	0.29432	0.095;0.244	B;B	0.27608	0.037;0.081	T	0.37798	-0.9690	10	0.25106	T	0.35	-18.8646	5.5271	0.16964	0.0:0.1474:0.2708:0.5818	.	487;487	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	R	487	ENSP00000275159:H487R;ENSP00000381270:H487R	ENSP00000275159:H487R	H	-	2	0	C6orf170	121646668	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	0.518000	0.22847	-0.043000	0.13513	0.459000	0.35465	CAT		0.313	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		10	221	0	0	0	1	0	10	221				
MTRF1	9617	broad.mit.edu	37	13	41791362	41791362	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41791362T>A	ENST00000379480.4	-	10	1327	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D|MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	409					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACATAAAAATTCCTGGTAAA	0.333																																						ENST00000379480.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14						c.(1225-1227)gaA>gaT		mitochondrial translational release factor 1							52.0	56.0	55.0					13																	41791362		2203	4300	6503	SO:0001583	missense	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41791362T>A	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.1227A>T	13.37:g.41791362T>A	ENSP00000368793:p.Glu409Asp					MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D|MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I	p.E409D	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	10	1327	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	409					B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	c.1227A>T	CCDS9378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.66|12.66	2.005756|2.005756	0.35415|0.35415	.|.	.|.	ENSG00000120662|ENSG00000120662	ENST00000379480;ENST00000379477|ENST00000430347	T;T|T	0.11063|0.10668	2.81;2.81|2.85	5.48|5.48	3.01|3.01	0.34805|0.34805	.|.	0.219776|.	0.45867|.	N|.	0.000340|.	T|T	0.10637|0.10637	0.0260|0.0260	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|B	0.36282|0.18013	0.546|0.025	B|B	0.31016|0.14578	0.123|0.011	T|T	0.07770|0.07770	-1.0755|-1.0755	10|9	0.44086|0.41790	T|T	0.13|0.15	-7.3071|-7.3071	5.4177|5.4177	0.16384|0.16384	0.1565:0.0858:0.0:0.7577|0.1565:0.0858:0.0:0.7577	.|.	409|458	O75570|B4DG01	RF1M_HUMAN|.	D|I	409|458	ENSP00000368793:E409D;ENSP00000368790:E409D|ENSP00000400031:N458I	ENSP00000368790:E409D|ENSP00000400031:N458I	E|N	-|-	3|2	2|0	MTRF1|MTRF1	40689362|40689362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.565000|0.565000	0.35776|0.35776	1.845000|1.845000	0.39279|0.39279	0.871000|0.871000	0.35750|0.35750	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.333	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		57	260	0	0	0	1	0	57	260				
MSTO1	55154	broad.mit.edu	37	1	155582030	155582030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582030G>A	ENST00000245564.2	+	8	760	c.736G>A	c.(736-738)Gca>Aca	p.A246T	MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	246					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CGCGAAGGCGGCAGAGCTGCT	0.542																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(736-738)Gca>Aca		misato 1, mitochondrial distribution and morphology regulator							39.0	44.0	43.0					1																	155582030		2203	4298	6501	SO:0001583	missense	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582030G>A	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.736G>A	1.37:g.155582030G>A	ENSP00000245564:p.Ala246Thr					MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	p.A246T	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			8	760	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		246					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	37	c.736G>A	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	3.950	-0.012399	0.07727	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.41758	0.99;0.99	3.17	-2.59	0.06209	Tubulin/FtsZ, GTPase domain (3);	0.261190	0.37178	N	0.002219	T	0.05410	0.0143	N	0.02412	-0.56	0.47584	D	0.999463	B;B;B;B;B;B;B;B	0.09022	0.001;0.0;0.0;0.0;0.002;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.14023	0.01;0.004;0.002;0.004;0.01;0.002;0.002;0.002	T	0.17623	-1.0363	10	0.48119	T	0.1	.	4.7492	0.13052	0.4891:0.0:0.3635:0.1474	.	191;246;211;246;68;246;246;246	B4DLS9;A8K3J5;Q9BUK6-7;D3DVA3;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;.;MSTO1_HUMAN;.;.	T	246;211	ENSP00000245564:A246T;ENSP00000357325:A211T	ENSP00000245564:A246T	A	+	1	0	MSTO1	153848654	0.425000	0.25498	0.009000	0.14445	0.553000	0.35397	1.231000	0.32624	-0.444000	0.07170	0.313000	0.20887	GCA		0.542	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		93	257	0	0	0	1	0	93	257				
HMCN1	83872	broad.mit.edu	37	1	186088957	186088957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186088957G>A	ENST00000271588.4	+	79	12266	c.12037G>A	c.(12037-12039)Ggg>Agg	p.G4013R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4013	Ig-like C2-type 39.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGCAACAGGGACACCCAG	0.393																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12037-12039)Ggg>Agg		hemicentin 1							100.0	94.0	96.0					1																	186088957		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088957G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12037G>A	1.37:g.186088957G>A	ENSP00000271588:p.Gly4013Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	p.G4013R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			79	12266	+			4013			Ig-like C2-type 39.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12037G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718089	0.89205	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79940	-1.32;-1.32	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95968	0.8967	10	0.72032	D	0.01	.	15.5677	0.76306	0.0:0.1373:0.8627:0.0	.	4013	Q96RW7	HMCN1_HUMAN	R	4013	ENSP00000271588:G4013R;ENSP00000356462:G4013R	ENSP00000271588:G4013R	G	+	1	0	HMCN1	184355580	1.000000	0.71417	0.787000	0.31911	0.896000	0.52359	7.807000	0.86032	2.830000	0.97506	0.585000	0.79938	GGG		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		95	269	0	0	0	1	0	95	269				
BCOR	54880	broad.mit.edu	37	X	39931785	39931785	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39931785G>T	ENST00000378444.4	-	4	3042	c.2814C>A	c.(2812-2814)acC>acA	p.T938T	BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000342274.4_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	938					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y939fs*7(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGGTATAGGTGGGGGTCA	0.507			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		1	Insertion - Frameshift(1)	p.Y939fs*7(1)	haematopoietic_and_lymphoid_tissue(1)	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2812-2814)acC>acA		BCL6 corepressor							72.0	57.0	62.0					X																	39931785		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39931785G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2814C>A	X.37:g.39931785G>T						BCOR_ENST00000378444.4_Silent_p.T938T|BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T	p.T938T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	3176	-			938					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.2814C>A	CCDS48093.1																																																																																				0.507	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		28	208	1	0	4.87955e-14	1	5.28594e-14	28	208				
HSPG2	3339	broad.mit.edu	37	1	22222460	22222460	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22222460C>A	ENST00000374695.3	-	3	279		c.e3-1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCAGGTCGTCTATAAGCAAA	0.552																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.e3-1		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						51.0	51.0	51.0					1																	22222460		2203	4300	6503	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22222460C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.200-1G>T	1.37:g.22222460C>A								NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	3	279	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37		CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	6.097	0.386085	0.11524	.	.	ENSG00000142798	ENST00000374695;ENST00000412328;ENST00000439717	.	.	.	4.72	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0717	0.42337	0.2007:0.7993:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22095047	1.000000	0.71417	0.944000	0.38274	0.062000	0.15995	3.531000	0.53546	1.192000	0.43071	-0.195000	0.12781	.		0.552	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	32	116	1	0	2.47316e-13	1	2.66891e-13	32	116				
DENND5B	160518	broad.mit.edu	37	12	31600696	31600696	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31600696A>G	ENST00000389082.5	-	6	1901	c.1637T>C	c.(1636-1638)tTt>tCt	p.F546S	DENND5B_ENST00000536562.1_Missense_Mutation_p.F581S|DENND5B_ENST00000306833.6_Missense_Mutation_p.F581S|DENND5B_ENST00000354285.4_Missense_Mutation_p.F568S|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	546	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCAGACAGAAAGGAAGCCTG	0.378																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1636-1638)tTt>tCt		DENN/MADD domain containing 5B							39.0	40.0	40.0					12																	31600696		1887	4118	6005	SO:0001583	missense	160518					integral to membrane		g.chr12:31600696A>G	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1637T>C	12.37:g.31600696A>G	ENSP00000373734:p.Phe546Ser					DENND5B_ENST00000354285.4_Missense_Mutation_p.F568S|DENND5B_ENST00000536562.1_Missense_Mutation_p.F581S|DENND5B_ENST00000306833.6_Missense_Mutation_p.F581S	p.F546S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			6	1901	-			546			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1637T>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511423	0.85389	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.0	5.0	0.66597	dDENN (3);	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.92000	0.5610	10	0.87932	D	0	-15.7777	14.853	0.70313	1.0:0.0:0.0:0.0	.	568;546;581	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	S	546;581;581;568	ENSP00000373734:F546S;ENSP00000306482:F581S;ENSP00000444889:F581S;ENSP00000346238:F568S	ENSP00000306482:F581S	F	-	2	0	DENND5B	31491963	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.897000	0.92532	2.096000	0.63516	0.460000	0.39030	TTT		0.378	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		12	42	0	0	0	1	0	12	42				
TERT	7015	broad.mit.edu	37	5	1282650	1282650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1282650C>T	ENST00000310581.5	-	3	1720	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	TERT_ENST00000508104.2_Missense_Mutation_p.E555K|TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	555					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.E555Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTGAGCAGCTCGACGACGTAC	0.527									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			2	Substitution - Missense(2)	p.E555Q(2)	kidney(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1663-1665)Gag>Aag		telomerase reverse transcriptase							132.0	121.0	125.0					5																	1282650		2203	4300	6503	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1282650C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1663G>A	5.37:g.1282650C>T	ENSP00000309572:p.Glu555Lys					TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K|TERT_ENST00000508104.2_Missense_Mutation_p.E555K	p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1720	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		555					O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1663G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342421	0.24339	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.64	3.74	0.42951	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.366373	0.30593	N	0.009285	T	0.82167	0.4978	L	0.55834	1.745	0.30140	N	0.804002	P;P;P	0.51351	0.931;0.923;0.944	B;B;P	0.46208	0.374;0.379;0.507	T	0.76405	-0.2971	10	0.11794	T	0.64	-0.2338	13.0319	0.58847	0.0:0.6773:0.3227:0.0	.	555;555;555	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	K	555	ENSP00000309572:E555K;ENSP00000296820:E555K;ENSP00000334346:E555K;ENSP00000426042:E555K	ENSP00000296820:E555K	E	-	1	0	TERT	1335650	0.268000	0.24133	0.139000	0.22197	0.043000	0.13939	0.808000	0.27154	0.889000	0.36185	0.462000	0.41574	GAG		0.527	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			66	364	0	0	0	1	0	66	364				
GBA2	57704	broad.mit.edu	37	9	35737268	35737268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35737268C>T	ENST00000378103.3	-	17	3205	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Silent_p.Q900Q	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	894					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTTTTGTGCTGCTGCTGTT	0.572																																						ENST00000378103.3																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(2680-2682)caG>caA		glucosidase, beta (bile acid) 2							99.0	88.0	91.0					9																	35737268		2203	4300	6503	SO:0001819	synonymous_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35737268C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2682G>A	9.37:g.35737268C>T						GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Silent_p.Q900Q|GBA2_ENST00000378088.1_3'UTR	p.Q894Q	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		17	3205	-	all_epithelial(49;0.167)		894					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.2682G>A	CCDS6589.1																																																																																				0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		71	423	0	0	0	1	0	71	423				
CR1	1378	broad.mit.edu	37	1	207696994	207696994	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207696994G>A	ENST00000367049.4	+	5	526	c.526G>A	c.(526-528)Gat>Aat	p.D176N	CR1_ENST00000367053.1_Missense_Mutation_p.D176N|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.D176N|CR1_ENST00000367052.1_Missense_Mutation_p.D176N	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	176	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACCAATGGAGATTTCATTAG	0.448																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(526-528)Gat>Aat		complement component (3b/4b) receptor 1 (Knops blood group)							81.0	73.0	75.0					1																	207696994		1849	4081	5930	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207696994G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.526G>A	1.37:g.207696994G>A	ENSP00000356016:p.Asp176Asn					CR1_ENST00000367052.1_Missense_Mutation_p.D176N|CR1_ENST00000400960.2_Missense_Mutation_p.D176N|CR1_ENST00000367053.1_Missense_Mutation_p.D176N|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Intron	p.D176N	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			5	526	+			176			Sushi 3.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.526G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245631	0.22796	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.16	-3.25	0.05079	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.25938	0.0632	L	0.54863	1.705	0.09310	N	1	B;D;B;B;B	0.65815	0.005;0.995;0.209;0.005;0.012	B;D;B;B;B	0.65987	0.01;0.94;0.255;0.01;0.01	T	0.24977	-1.0145	9	0.18276	T	0.48	.	0.2928	0.00261	0.2781:0.1416:0.292:0.2883	.	626;176;151;176;176	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	N	176	ENSP00000356019:D176N;ENSP00000356020:D176N;ENSP00000383744:D176N;ENSP00000436139:D176N;ENSP00000356016:D176N	ENSP00000356016:D176N	D	+	1	0	CR1	205763617	0.000000	0.05858	0.023000	0.16930	0.033000	0.12548	-1.635000	0.02018	-0.458000	0.07023	0.461000	0.40582	GAT		0.448	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		11	339	0	0	0	1	0	11	339				
PSMD3	5709	broad.mit.edu	37	17	38151281	38151281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38151281C>T	ENST00000264639.4	+	7	1230	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PSMD3_ENST00000541736.1_Silent_p.S214S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCCAGCCCTCCCTCAAGCGCT	0.602																																					Ovarian(186;531 2051 6385 19668 48409)	ENST00000264639.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1054-1056)tcC>tcT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 3							93.0	98.0	96.0					17																	38151281		2203	4300	6503	SO:0001819	synonymous_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38151281C>T	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1056C>T	17.37:g.38151281C>T						PSMD3_ENST00000541736.1_Silent_p.S214S	p.S352S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN			7	1230	+	Colorectal(19;0.000442)		352					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	c.1056C>T	CCDS11356.1																																																																																				0.602	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		24	693	0	0	0	1	0	24	693				
ADH5	128	broad.mit.edu	37	4	99997895	99997895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99997895C>T	ENST00000296412.8	-	5	574	c.524G>A	c.(523-525)gGc>gAc	p.G175D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		GGTTGAAATGCCACAACCTAG	0.418																																						ENST00000296412.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13						c.(523-525)gGc>gAc		alcohol dehydrogenase 5 (class III), chi polypeptide	NADH(DB00157)						73.0	67.0	69.0					4																	99997895		1896	4126	6022	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:99997895C>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.524G>A	4.37:g.99997895C>T	ENSP00000296412:p.Gly175Asp					ADH5_ENST00000512991.1_5'UTR	p.G175D	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	5	574	-			175						Missense_Mutation	SNP	ENST00000296412.8	37	c.524G>A	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617379	0.87359	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.23348	1.91;1.91	5.1	4.26	0.50523	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	H	0.99815	4.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85057	0.0932	9	.	.	.	-18.4869	14.0279	0.64597	0.0:0.9276:0.0:0.0724	.	175;175;175	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	175;162	ENSP00000296412:G175D;ENSP00000427049:G162D	.	G	-	2	0	ADH5	100216918	0.995000	0.38212	0.991000	0.47740	0.997000	0.91878	3.157000	0.50716	1.535000	0.49220	0.650000	0.86243	GGC		0.418	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		24	135	0	0	0	1	0	24	135				
ERICH3	127254	broad.mit.edu	37	1	75038471	75038471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75038471G>A	ENST00000326665.5	-	14	3141	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		975	Glu-rich.							p.L975I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCCCCCAAGAATTGCCTCT	0.522																																						ENST00000326665.5																			1	Substitution - Missense(1)	p.L975I(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2923-2925)Ctt>Ttt		chromosome 1 open reading frame 173							128.0	118.0	121.0					1																	75038471		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038471G>A																												ENST00000326665.5:c.2923C>T	1.37:g.75038471G>A	ENSP00000322609:p.Leu975Phe					C1orf173_ENST00000433746.2_5'UTR	p.L975F	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3141	-			975			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2923C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669012	0.29604	.	.	ENSG00000178965	ENST00000326665	T	0.19394	2.15	4.65	-0.235	0.13071	.	.	.	.	.	T	0.04588	0.0125	L	0.40543	1.245	0.09310	N	1	B	0.21225	0.053	B	0.19391	0.025	T	0.41070	-0.9529	9	0.52906	T	0.07	0.2926	0.2928	0.00261	0.3139:0.229:0.2654:0.1916	.	975	Q5RHP9	CA173_HUMAN	F	975	ENSP00000322609:L975F	ENSP00000322609:L975F	L	-	1	0	C1orf173	74811059	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.235000	0.02928	0.064000	0.16427	-0.358000	0.07595	CTT		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			116	415	0	0	0	1	0	116	415				
KIF26B	55083	broad.mit.edu	37	1	245851582	245851582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245851582C>T	ENST00000407071.2	+	12	5737	c.5297C>T	c.(5296-5298)gCg>gTg	p.A1766V	KIF26B_ENST00000366518.4_Missense_Mutation_p.A1385V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1766	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGCCGCAGGCGGTGGGCCAG	0.706																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4153-4155)gCg>gTg		kinesin family member 26B							10.0	11.0	11.0					1																	245851582		1509	3329	4838	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851582C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5297C>T	1.37:g.245851582C>T	ENSP00000385545:p.Ala1766Val					KIF26B_ENST00000407071.2_Missense_Mutation_p.A1766V	p.A1385V			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4258	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1766					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4154C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938823	0.34189	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.44	5.44	0.79542	.	.	.	.	.	T	0.63367	0.2505	L	0.27053	0.805	0.33178	D	0.549156	P;P	0.36483	0.555;0.555	B;B	0.21151	0.033;0.023	T	0.67711	-0.5600	9	0.15952	T	0.53	.	19.256	0.93945	0.0:1.0:0.0:0.0	.	1385;1766	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1766;1385;1382	ENSP00000385545:A1766V;ENSP00000355475:A1385V	ENSP00000355475:A1385V	A	+	2	0	KIF26B	243918205	0.999000	0.42202	0.884000	0.34674	0.396000	0.30629	5.894000	0.69806	2.561000	0.86390	0.462000	0.41574	GCG		0.706	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		37	135	0	0	0	1	0	37	135				
LRRN1	57633	broad.mit.edu	37	3	3888139	3888139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3888139C>T	ENST00000319331.3	+	2	2575	c.1814C>T	c.(1813-1815)aCt>aTt	p.T605I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	605	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATCAGCAGACTCAAAAGTCA	0.478																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1813-1815)aCt>aTt		leucine rich repeat neuronal 1							170.0	165.0	166.0					3																	3888139		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3888139C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1814C>T	3.37:g.3888139C>T	ENSP00000314901:p.Thr605Ile					SUMF1_ENST00000534863.1_Intron	p.T605I	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2575	+			605			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1814C>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881468	0.51801	.	.	ENSG00000175928	ENST00000319331	T	0.49432	0.78	5.5	5.5	0.81552	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.152121	0.64402	D	0.000014	T	0.39733	0.1089	L	0.38838	1.175	0.58432	D	0.999998	P	0.37122	0.583	B	0.30646	0.118	T	0.24297	-1.0164	10	0.38643	T	0.18	.	19.7663	0.96342	0.0:1.0:0.0:0.0	.	605	Q6UXK5	LRRN1_HUMAN	I	605	ENSP00000314901:T605I	ENSP00000314901:T605I	T	+	2	0	LRRN1	3863139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.741000	0.93983	0.650000	0.86243	ACT		0.478	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		141	591	0	0	0	1	0	141	591				
SLC41A1	254428	broad.mit.edu	37	1	205779550	205779550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779550G>A	ENST00000367137.3	-	2	1034	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	7					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GACGTCCTTCGGCTCTGGCTT	0.552											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(19-21)cCg>cTg		solute carrier family 41 (magnesium transporter), member 1							78.0	85.0	83.0					1																	205779550		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779550G>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.20C>T	1.37:g.205779550G>A	ENSP00000356105:p.Pro7Leu		OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2154		p.P7L	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1034	-	Breast(84;0.0799)		7					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.20C>T	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181026	0.38511	.	.	ENSG00000133065	ENST00000367137	T	0.30714	1.52	5.64	3.78	0.43462	.	0.360313	0.28665	N	0.014554	T	0.21921	0.0528	L	0.39898	1.24	0.34108	D	0.662706	B	0.02656	0.0	B	0.01281	0.0	T	0.15954	-1.0419	10	0.39692	T	0.17	-8.2833	5.6147	0.17423	0.1614:0.0:0.645:0.1936	.	7	Q8IVJ1	S41A1_HUMAN	L	7	ENSP00000356105:P7L	ENSP00000356105:P7L	P	-	2	0	SLC41A1	204046173	0.930000	0.31532	0.805000	0.32314	0.851000	0.48451	1.331000	0.33793	0.751000	0.32900	-0.266000	0.10368	CCG		0.552	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			121	437	0	0	0	1	0	121	437				
FANCM	57697	broad.mit.edu	37	14	45605403	45605403	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45605403T>C	ENST00000267430.5	+	1	254	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	FANCM_ENST00000556036.1_Silent_p.L57L|FANCM_ENST00000542564.2_Silent_p.L57L|FKBP3_ENST00000216330.3_5'Flank|FKBP3_ENST00000396062.3_5'Flank	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	57					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CGATGATGTGTTGCTTGTCGC	0.632								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(169-171)Ttg>Ctg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							78.0	76.0	77.0					14																	45605403		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605403T>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.169T>C	14.37:g.45605403T>C						FANCM_ENST00000542564.2_Silent_p.L57L|FANCM_ENST00000556036.1_Silent_p.L57L	p.L57L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			1	254	+			57					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.169T>C	CCDS32070.1																																																																																				0.632	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		21	392	0	0	0	1	0	21	392				
GATAD2A	54815	broad.mit.edu	37	19	19613287	19613287	+	Missense_Mutation	SNP	G	G	A	rs200840328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19613287G>A	ENST00000360315.3	+	11	2035	c.1723G>A	c.(1723-1725)Ggc>Agc	p.G575S	GATAD2A_ENST00000404158.1_Missense_Mutation_p.G576S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	575					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGTGAGCGCCGGCAAGGGCAG	0.642																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1726-1728)Ggc>Agc		GATA zinc finger domain containing 2A		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	66.0	74.0	71.0		1723	-2.3	0.0	19		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GATAD2A	NM_017660.3	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	575/634	19613287	2,13004	2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19613287G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1723G>A	19.37:g.19613287G>A	ENSP00000353463:p.Gly575Ser					GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S	p.G576S			Q86YP4	P66A_HUMAN			13	2144	+			575					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1726G>A	CCDS12402.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.707|2.707	-0.269549|-0.269549	0.05716|0.05716	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000167491|ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563|ENST00000418032	T;T;T;T|.	0.42513|.	1.53;1.56;1.53;0.97|.	5.04|5.04	-2.26|-2.26	0.06867|0.06867	.|.	0.569617|.	0.19591|.	N|.	0.110628|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.34521|0.34521	1.04|1.04	0.20196|0.20196	N|N	0.99992|0.99992	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.06405|.	0.001;0.001;0.002|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|5	0.22109|.	T|.	0.4|.	-5.3751|-5.3751	9.6909|9.6909	0.40127|0.40127	0.5268:0.0:0.4732:0.0|0.5268:0.0:0.4732:0.0	.|.	378;595;575|.	B4DKZ7;B5MC40;Q86YP4|.	.;.;P66A_HUMAN|.	S|Q	575;550;204;595;575;378|176	ENSP00000353463:G575S;ENSP00000252577:G550S;ENSP00000351552:G575S;ENSP00000388416:G378S|.	ENSP00000252577:G550S|.	G|R	+|+	1|2	0|0	GATAD2A|GATAD2A	19474287|19474287	0.037000|0.037000	0.19845|0.19845	0.047000|0.047000	0.18901|0.18901	0.125000|0.125000	0.20455|0.20455	0.302000|0.302000	0.19192|0.19192	-0.142000|-0.142000	0.11354|0.11354	-0.143000|-0.143000	0.13931|0.13931	GGC|CGG		0.642	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		147	591	0	0	0	1	0	147	591				
AEN	64782	broad.mit.edu	37	15	89169883	89169883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89169883G>A	ENST00000332810.3	+	2	594	c.443G>A	c.(442-444)aGg>aAg	p.R148K	AEN_ENST00000379231.3_Missense_Mutation_p.R148K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	148	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAGTACATCAGGCCTGAGATG	0.602																																						ENST00000332810.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(442-444)aGg>aAg		apoptosis enhancing nuclease							78.0	74.0	75.0					15																	89169883		2200	4299	6499	SO:0001583	missense	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89169883G>A	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.443G>A	15.37:g.89169883G>A	ENSP00000331944:p.Arg148Lys					AEN_ENST00000379231.3_Missense_Mutation_p.R148K	p.R148K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN			2	594	+			148			Exonuclease.		C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	37	c.443G>A	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741046	0.30865	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.27890	1.64;1.64	5.32	1.26	0.21427	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.858239	0.10110	N	0.714869	T	0.09468	0.0233	N	0.01751	-0.74	0.09310	N	0.999997	B;B	0.11235	0.004;0.004	B;B	0.16289	0.009;0.015	T	0.37056	-0.9722	10	0.09590	T	0.72	-11.5789	3.8604	0.08993	0.2922:0.0:0.4457:0.2621	.	148;148	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	K	148	ENSP00000331944:R148K;ENSP00000368533:R148K	ENSP00000331944:R148K	R	+	2	0	AEN	86970887	0.986000	0.35501	0.946000	0.38457	0.965000	0.64279	1.355000	0.34068	-0.014000	0.14175	0.609000	0.83330	AGG		0.602	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		91	522	0	0	0	1	0	91	522				
HINFP	25988	broad.mit.edu	37	11	119003439	119003439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003439C>T	ENST00000350777.2	+	7	886	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	HINFP_ENST00000527410.1_Missense_Mutation_p.R275C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	275					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAACCACATGCGCTTTCGTCA	0.542																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(823-825)Cgc>Tgc		histone H4 transcription factor							127.0	119.0	122.0					11																	119003439		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003439C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.823C>T	11.37:g.119003439C>T	ENSP00000318085:p.Arg275Cys					HINFP_ENST00000527410.1_Missense_Mutation_p.R275C	p.R275C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			7	886	+			275					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.823C>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217362	0.79352	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.58506	0.33;0.33	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048851	0.85682	D	0.000000	T	0.80555	0.4645	M	0.86651	2.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.83168	-0.0095	10	0.87932	D	0	-32.0835	19.8599	0.96779	0.0:1.0:0.0:0.0	.	275	Q9BQA5	HINFP_HUMAN	C	275	ENSP00000318085:R275C;ENSP00000436815:R275C	ENSP00000318085:R275C	R	+	1	0	HINFP	118508649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.682000	0.68182	2.710000	0.92621	0.655000	0.94253	CGC		0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		19	597	0	0	0	1	0	19	597				
CSRNP1	64651	broad.mit.edu	37	3	39186588	39186588	+	Missense_Mutation	SNP	C	C	T	rs200798768	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39186588C>T	ENST00000273153.5	-	3	542	c.365G>A	c.(364-366)cGc>cAc	p.R122H	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	122					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CAAAGAGAAGCGACGGCAAGC	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		16857	0.002		0.0	False		,,,				2504	0.0					ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(364-366)cGc>cAc		cysteine-serine-rich nuclear protein 1							71.0	62.0	65.0					3																	39186588		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39186588C>T	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.365G>A	3.37:g.39186588C>T	ENSP00000273153:p.Arg122His					CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	p.R122H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			3	542	-			122					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.365G>A	CCDS2682.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.953	0.968776	0.18659	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15834	2.39;2.39	5.14	-3.89	0.04193	.	0.872621	0.10310	N	0.690093	T	0.12092	0.0294	L	0.39245	1.2	0.22001	N	0.999423	B	0.21381	0.055	B	0.12156	0.007	T	0.25950	-1.0117	10	0.39692	T	0.17	-14.4598	9.0115	0.36144	0.1108:0.2384:0.0:0.6507	.	122	Q96S65	CSRN1_HUMAN	H	122	ENSP00000273153:R122H;ENSP00000422532:R122H	ENSP00000273153:R122H	R	-	2	0	CSRNP1	39161592	0.137000	0.22531	0.850000	0.33497	0.072000	0.16883	-0.260000	0.08708	-0.815000	0.04346	-0.993000	0.02533	CGC		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		52	240	0	0	0	1	0	52	240				
GTF3C1	2975	broad.mit.edu	37	16	27473805	27473805	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27473805T>C	ENST00000356183.4	-	36	5942	c.5927A>G	c.(5926-5928)gAc>gGc	p.D1976G	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1976					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTCTCACAGTCCCTGCAGGG	0.627																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5926-5928)gAc>gGc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							64.0	39.0	47.0					16																	27473805		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27473805T>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5927A>G	16.37:g.27473805T>C	ENSP00000348510:p.Asp1976Gly					GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	p.D1976G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			36	5942	-			1976					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5927A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	t	5.628	0.300635	0.10678	.	.	ENSG00000077235	ENST00000356183	T	0.24723	1.84	4.38	1.54	0.23209	.	0.378699	0.22030	N	0.065608	T	0.15176	0.0366	L	0.42245	1.32	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.13407	0.004;0.009	T	0.23297	-1.0192	10	0.19590	T	0.45	-13.5801	1.1587	0.01801	0.1567:0.139:0.3214:0.3829	.	1976;1951	Q12789;Q12789-3	TF3C1_HUMAN;.	G	1976	ENSP00000348510:D1976G	ENSP00000348510:D1976G	D	-	2	0	GTF3C1	27381306	0.957000	0.32711	0.044000	0.18714	0.126000	0.20510	0.834000	0.27518	0.062000	0.16340	-0.663000	0.03849	GAC		0.627	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		17	132	0	0	0	1	0	17	132				
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46771875G>A	ENST00000529230.1	-	42	5699	c.5653C>T	c.(5653-5655)Cgg>Tgg	p.R1885W	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1885					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAATCACCCGAAGGCCTCTT	0.413																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(5653-5655)Cgg>Tgg		cytoskeleton associated protein 5							110.0	106.0	107.0					11																	46771875		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46771875G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5653C>T	11.37:g.46771875G>A	ENSP00000432768:p.Arg1885Trp					CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W	p.R1885W			Q14008	CKAP5_HUMAN			42	5699	-			1885					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.5653C>T	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.899108|3.899108	0.72754|0.72754	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.49720|.	0.8;0.8;0.77;0.77|.	5.58|5.58	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71702|0.71702	0.3371|0.3371	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.989;0.996;0.99|.	T|T	0.71777|0.71777	-0.4490|-0.4490	10|5	0.87932|.	D|.	0|.	-20.2111|-20.2111	13.4371|13.4371	0.61090|0.61090	0.0:0.0:0.7143:0.2857|0.0:0.0:0.7143:0.2857	.|.	1892;1825;1885|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	W|L	1885;1892;1825;1825|123	ENSP00000432768:R1885W;ENSP00000395302:R1892W;ENSP00000310227:R1825W;ENSP00000346566:R1825W|.	ENSP00000310227:R1825W|.	R|S	-|-	1|2	2|0	CKAP5|CKAP5	46728451|46728451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.290000|4.290000	0.59019|0.59019	1.336000|1.336000	0.45506|0.45506	0.549000|0.549000	0.68633|0.68633	CGG|TCG		0.413	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		79	367	0	0	0	1	0	79	367				
KIRREL3	84623	broad.mit.edu	37	11	126316668	126316668	+	Missense_Mutation	SNP	G	G	A	rs542711141		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126316668G>A	ENST00000525144.2	-	9	1360	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	371	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCGGAGCCCCGCTTCATCCAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17626	0.0		0.001	False		,,,				2504	0.0					ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1111-1113)Cgg>Tgg		kin of IRRE like 3 (Drosophila)							27.0	30.0	29.0					11																	126316668		2011	4171	6182	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126316668G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1111C>T	11.37:g.126316668G>A	ENSP00000435466:p.Arg371Trp					KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W	p.R371W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	9	1360	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	371			Ig-like C2-type 4.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.1111C>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733469	0.48939	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.28069	1.63;1.63;1.63	4.77	3.84	0.44239	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.55101	-0.8193	10	0.87932	D	0	.	13.6927	0.62556	0.0:0.0:0.844:0.156	.	371;371;371	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	W	371	ENSP00000435466:R371W;ENSP00000434081:R371W;ENSP00000435094:R371W	ENSP00000435466:R371W	R	-	1	2	KIRREL3	125821878	0.993000	0.37304	1.000000	0.80357	0.403000	0.30841	2.427000	0.44740	0.949000	0.37715	0.297000	0.19635	CGG		0.647	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		7	41	0	0	0	1	0	7	41				
EFCAB6	64800	broad.mit.edu	37	22	43936061	43936061	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43936061G>A	ENST00000262726.7	-	28	4078	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1123L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGGGCAATGAGAGGGCAGATC	0.622																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3823-3825)ctC>ctT		EF-hand calcium binding domain 6							102.0	87.0	92.0					22																	43936061		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43936061G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3825C>T	22.37:g.43936061G>A						EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1123L	p.L1275L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			28	4078	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1275					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.3825C>T	CCDS14049.1																																																																																				0.622	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		52	279	0	0	0	1	0	52	279				
CNN3	1266	broad.mit.edu	37	1	95369040	95369040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95369040C>T	ENST00000370206.4	-	2	481	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000394202.4_Missense_Mutation_p.R33H|CNN3_ENST00000538964.1_Missense_Mutation_p.R33H	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	33	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATCCAATTGCGAAGATCTTC	0.458																																						ENST00000370206.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18						c.(97-99)cGc>cAc		calponin 3, acidic							114.0	105.0	108.0					1																	95369040		2203	4300	6503	SO:0001583	missense	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95369040C>T	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.98G>A	1.37:g.95369040C>T	ENSP00000359225:p.Arg33His					CNN3_ENST00000394202.4_Missense_Mutation_p.R33H|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.R33H	p.R33H	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	2	481	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	33			CH.		B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	c.98G>A	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302712	0.81136	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	D;D;D	0.95137	-3.62;-3.62;-3.62	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.87758	2.905	0.80722	D	1	P;D	0.71674	0.877;0.998	B;D	0.80764	0.302;0.994	D	0.97032	0.9751	10	0.52906	T	0.07	-12.6225	20.1649	0.98147	0.0:1.0:0.0:0.0	.	33;33	F8WA86;Q15417	.;CNN3_HUMAN	H	33	ENSP00000359225:R33H;ENSP00000437665:R33H;ENSP00000377752:R33H	ENSP00000359225:R33H	R	-	2	0	CNN3	95141628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.753000	0.94483	0.655000	0.94253	CGC		0.458	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		71	289	0	0	0	1	0	71	289				
UACA	55075	broad.mit.edu	37	15	70970515	70970515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970515C>T	ENST00000322954.6	-	11	1107	c.922G>A	c.(922-924)Gag>Aag	p.E308K	UACA_ENST00000560441.1_Missense_Mutation_p.E295K|UACA_ENST00000539319.1_Missense_Mutation_p.E199K|UACA_ENST00000379983.2_Missense_Mutation_p.E295K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	308					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCAACCTCTCTTTCAAATCT	0.303																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(922-924)Gag>Aag		uveal autoantigen with coiled-coil domains and ankyrin repeats							96.0	93.0	94.0					15																	70970515		2196	4295	6491	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70970515C>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.922G>A	15.37:g.70970515C>T	ENSP00000314556:p.Glu308Lys					UACA_ENST00000539319.1_Missense_Mutation_p.E199K|UACA_ENST00000560441.1_Missense_Mutation_p.E295K|UACA_ENST00000379983.2_Missense_Mutation_p.E295K	p.E308K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			11	1107	-			308					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.922G>A	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691807	0.88735	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.38240	1.15;1.16;1.73	5.31	5.31	0.75309	.	0.270250	0.31922	N	0.006854	T	0.45094	0.1325	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.41929	0.765;0.653;0.653;0.73	P;B;B;B	0.44359	0.447;0.26;0.26;0.281	T	0.45906	-0.9229	10	0.62326	D	0.03	-17.5848	17.5243	0.87795	0.0:1.0:0.0:0.0	.	199;308;308;295	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	308;295;295;199	ENSP00000314556:E308K;ENSP00000369319:E295K;ENSP00000438667:E199K	ENSP00000314556:E308K	E	-	1	0	UACA	68757569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.912000	0.63335	2.658000	0.90341	0.585000	0.79938	GAG		0.303	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			30	155	0	0	0	1	0	30	155				
SCN5A	6331	broad.mit.edu	37	3	38622571	38622571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622571G>A	ENST00000333535.4	-	17	3228	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W	SCN5A_ENST00000413689.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1027			R -> Q. {ECO:0000269|PubMed:1309946, ECO:0000269|PubMed:16616735, ECO:0000269|Ref.6}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTCAAACCGTGTTTCCTTG	0.667																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3079-3081)Cgg>Tgg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						32.0	33.0	32.0					3																	38622571		1999	4159	6158	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622571G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3079C>T	3.37:g.38622571G>A	ENSP00000328968:p.Arg1027Trp					SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W	p.R1027W	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3272	-	Medulloblastoma(35;0.163)		1027		R -> Q.			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3079C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956688	0.34565	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.12	1.9	0.25705	Sodium ion transport-associated (1);	1.256210	0.05875	N	0.625338	D	0.88916	0.6567	L	0.59436	1.845	0.09310	N	1	B;D;D;D;D;D;D	0.89917	0.027;0.999;1.0;1.0;1.0;0.999;1.0	B;D;D;D;D;P;D	0.81914	0.019;0.96;0.992;0.995;0.981;0.837;0.967	T	0.73116	-0.4084	10	0.72032	D	0.01	.	8.8191	0.35014	0.0748:0.0:0.4916:0.4336	.	1027;1027;1027;1027;1027;1027;1027	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	1027	ENSP00000398962:R1027W;ENSP00000398266:R1027W;ENSP00000410257:R1027W;ENSP00000388797:R1027W;ENSP00000397915:R1027W;ENSP00000416634:R1027W;ENSP00000328968:R1027W;ENSP00000399524:R1027W;ENSP00000403355:R1027W;ENSP00000413996:R1027W	ENSP00000328968:R1027W	R	-	1	2	SCN5A	38597575	0.000000	0.05858	0.484000	0.27391	0.419000	0.31324	0.408000	0.21065	0.529000	0.28599	0.561000	0.74099	CGG		0.667	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		40	133	0	0	0	1	0	40	133				
LRP6	4040	broad.mit.edu	37	12	12334299	12334299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12334299C>T	ENST00000261349.4	-	6	1127	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	LRP6_ENST00000543091.1_Missense_Mutation_p.D351N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	351	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGAACAATGTCTGTAAAATCT	0.423																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1051-1053)Gac>Aac		low density lipoprotein receptor-related protein 6							135.0	124.0	127.0					12																	12334299		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334299C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1051G>A	12.37:g.12334299C>T	ENSP00000261349:p.Asp351Asn					LRP6_ENST00000543091.1_Missense_Mutation_p.D351N	p.D351N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			6	1127	-		Prostate(47;0.0865)	351			Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1051G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619377	0.66787	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91068	-2.78;-2.78	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.93621	0.7963	L	0.55990	1.75	0.80722	D	1	D;P	0.71674	0.998;0.721	D;B	0.66351	0.943;0.32	D	0.90785	0.4682	10	0.22109	T	0.4	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	351;351	F5H7J9;O75581	.;LRP6_HUMAN	N	351	ENSP00000261349:D351N;ENSP00000442472:D351N	ENSP00000261349:D351N	D	-	1	0	LRP6	12225566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.786000	0.85741	2.752000	0.94435	0.655000	0.94253	GAC		0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			33	464	0	0	0	1	0	33	464				
SPNS1	83985	broad.mit.edu	37	16	28995175	28995175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995175G>A	ENST00000311008.11	+	11	1766	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	SPNS1_ENST00000565975.1_Silent_p.S508S|SPNS1_ENST00000323081.8_Silent_p.S390S|SPNS1_ENST00000352260.7_Silent_p.S389S|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000354453.4_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Silent_p.S411S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	463					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCAGTTCTCGCTCATGCTCT	0.667																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1387-1389)tcG>tcA		spinster homolog 1 (Drosophila)							59.0	63.0	62.0					16																	28995175		2197	4300	6497	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995175G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1389G>A	16.37:g.28995175G>A						SPNS1_ENST00000352260.7_Silent_p.S389S|SPNS1_ENST00000565975.1_Silent_p.S508S|SPNS1_ENST00000334536.8_Silent_p.S411S|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Silent_p.S390S	p.S463S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			11	1766	+			463					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.1389G>A	CCDS10646.1																																																																																				0.667	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		118	563	0	0	0	1	0	118	563				
MAMDC2	256691	broad.mit.edu	37	9	72833493	72833493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72833493G>T	ENST00000377182.4	+	12	2509	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	631	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATTGAATACAGCTGTGAGAGG	0.428																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1891-1893)aGc>aTc		MAM domain containing 2							61.0	60.0	60.0					9																	72833493		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72833493G>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1892G>T	9.37:g.72833493G>T	ENSP00000366387:p.Ser631Ile					SMC5-AS1_ENST00000594708.1_RNA	p.S631I	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			12	2509	+			631			MAM 4.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1892G>T	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361880	0.61403	.	.	ENSG00000165072	ENST00000377182	T	0.02446	4.29	5.32	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.503086	0.25238	N	0.032109	T	0.06096	0.0158	M	0.69185	2.1	0.34456	D	0.701231	P	0.48294	0.908	P	0.49953	0.627	T	0.27157	-1.0082	10	0.36615	T	0.2	-16.4135	5.7393	0.18083	0.1351:0.3581:0.5068:0.0	.	631	Q7Z304	MAMC2_HUMAN	I	631	ENSP00000366387:S631I	ENSP00000366387:S631I	S	+	2	0	MAMDC2	72023313	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.943000	0.56621	1.387000	0.46486	0.580000	0.79431	AGC		0.428	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		39	164	1	0	3.38236e-24	1	3.86174e-24	39	164				
SBF2	81846	broad.mit.edu	37	11	10051375	10051375	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10051375G>A	ENST00000256190.8	-	5	587	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	150	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTTCCAAGGAGACATTCAGGC	0.408																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(448-450)gtC>gtT		SET binding factor 2							205.0	205.0	205.0					11																	10051375		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10051375G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.450C>T	11.37:g.10051375G>A						SBF2_ENST00000527019.1_5'UTR	p.V150V	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	5	587	-			150			DENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.450C>T	CCDS31427.1																																																																																				0.408	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		240	1075	0	0	0	1	0	240	1075				
CAND2	23066	broad.mit.edu	37	3	12858054	12858054	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12858054C>A	ENST00000456430.2	+	10	1664	c.1623C>A	c.(1621-1623)gcC>gcA	p.A541A	CAND2_ENST00000295989.5_Silent_p.A448A	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	541					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCGAGGCCCTGGTGGTGC	0.617																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1621-1623)gcC>gcA		cullin-associated and neddylation-dissociated 2 (putative)							32.0	36.0	34.0					3																	12858054		2037	4192	6229	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858054C>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1623C>A	3.37:g.12858054C>A						CAND2_ENST00000295989.5_Silent_p.A448A	p.A541A	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	1664	+			541					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.1623C>A	CCDS54554.1																																																																																				0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		9	254	1	0	3.09899e-07	1	3.21319e-07	9	254				
CCDC82	79780	broad.mit.edu	37	11	96117513	96117513	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96117513C>A	ENST00000278520.5	-	3	827	c.399G>T	c.(397-399)gaG>gaT	p.E133D	CCDC82_ENST00000423339.2_Missense_Mutation_p.E133D|CCDC82_ENST00000542662.1_Missense_Mutation_p.E133D|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	133										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GATCATTATCCTCTTGACTTA	0.323																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(397-399)gaG>gaT		coiled-coil domain containing 82							178.0	178.0	178.0					11																	96117513		2201	4297	6498	SO:0001583	missense	79780						protein binding	g.chr11:96117513C>A	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.399G>T	11.37:g.96117513C>A	ENSP00000278520:p.Glu133Asp					CCDC82_ENST00000423339.2_Missense_Mutation_p.E133D|CCDC82_ENST00000542662.1_Missense_Mutation_p.E133D	p.E133D			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	827	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	133					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.399G>T	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.744057	0.15710	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	3.68	0.735	0.18300	.	.	.	.	.	T	0.22898	0.0553	L	0.48642	1.525	0.09310	N	1	P;P	0.44627	0.839;0.672	P;B	0.46110	0.504;0.363	T	0.16188	-1.0411	9	0.16896	T	0.51	.	6.5432	0.22392	0.0:0.4201:0.0:0.5799	.	133;133	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	D	133	ENSP00000278520:E133D;ENSP00000444010:E133D;ENSP00000397156:E133D;ENSP00000442723:E133D	ENSP00000278520:E133D	E	-	3	2	CCDC82	95757161	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.240000	0.18042	0.143000	0.18926	0.650000	0.86243	GAG		0.323	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		9	412	1	0	3.09899e-07	1	3.21319e-07	9	412				
PPP1R12C	54776	broad.mit.edu	37	19	55607246	55607246	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55607246T>C	ENST00000263433.3	-	9	1231	c.1216A>G	c.(1216-1218)Aag>Gag	p.K406E	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACGGGACTCTTAGGGCTGGGG	0.632																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(1216-1218)Aag>Gag		protein phosphatase 1, regulatory subunit 12C							58.0	72.0	68.0					19																	55607246		2202	4300	6502	SO:0001583	missense	54776					cytoplasm		g.chr19:55607246T>C	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1216A>G	19.37:g.55607246T>C	ENSP00000263433:p.Lys406Glu					PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E	p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	9	1231	-			406						Missense_Mutation	SNP	ENST00000263433.3	37	c.1216A>G	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978693	0.18812	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.67171	-0.11;-0.13;-0.25	4.08	-6.62	0.01813	.	1.460060	0.04373	N	0.359422	T	0.53077	0.1774	L	0.42245	1.32	0.09310	N	1	B;B;B	0.17038	0.02;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.0	T	0.35773	-0.9775	10	0.30078	T	0.28	.	8.0384	0.30506	0.0:0.2738:0.5401:0.186	.	332;406;406	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	E	406;406;332	ENSP00000263433:K406E;ENSP00000365573:K406E;ENSP00000387833:K332E	ENSP00000263433:K406E	K	-	1	0	PPP1R12C	60299058	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.092000	0.03366	-1.227000	0.02571	0.459000	0.35465	AAG		0.632	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		129	545	0	0	0	1	0	129	545				
FGFR4	2264	broad.mit.edu	37	5	176522351	176522351	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176522351C>A	ENST00000292408.4	+	12	1785	c.1540C>A	c.(1540-1542)Ctg>Atg	p.L514M	FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M|FGFR4_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	514	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TGACAAGGACCTGGCCGACCT	0.602										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1540-1542)Ctg>Atg		fibroblast growth factor receptor 4	Palifermin(DB00039)						90.0	88.0	89.0					5																	176522351		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176522351C>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1540C>A	5.37:g.176522351C>A	ENSP00000292408:p.Leu514Met	TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M|FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M	p.L514M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1785	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	514			Protein kinase.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1540C>A	CCDS4410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.495162|2.495162	0.44352|0.44352	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076	D;D;D;D;D|.	0.83250|.	-1.7;-1.7;-1.7;-1.7;-1.7|.	4.62|4.62	-4.21|-4.21	0.03812|0.03812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52948|0.52948	0.1766|0.1766	L|L	0.41710|0.41710	1.295|1.295	0.50632|0.50632	D|D	0.999885|0.999885	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.52953|0.52953	-0.8506|-0.8506	10|5	0.37606|.	T|.	0.19|.	.|.	14.2483|14.2483	0.66001|0.66001	0.0:0.6208:0.0:0.3792|0.0:0.6208:0.0:0.3792	.|.	446;474;514|.	B4DVP5;P22455-2;P22455|.	.;.;FGFR4_HUMAN|.	M|H	514;446;514;474;474;742|145	ENSP00000292408:L514M;ENSP00000377259:L446M;ENSP00000424960:L514M;ENSP00000292410:L474M;ENSP00000377254:L474M|.	ENSP00000292408:L514M|.	L|P	+|+	1|2	2|0	FGFR4|FGFR4	176454957|176454957	0.108000|0.108000	0.22018|0.22018	0.951000|0.951000	0.38953|0.38953	0.442000|0.442000	0.32017|0.32017	-0.007000|-0.007000	0.12810|0.12810	-0.609000|-0.609000	0.05724|0.05724	-0.459000|-0.459000	0.05422|0.05422	CTG|CCT		0.602	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			12	350	1	0	0.0135373	1	0.0136081	12	350				
TIPRL	261726	broad.mit.edu	37	1	168153250	168153250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168153250C>T	ENST00000367833.2	+	2	360	c.215C>T	c.(214-216)gCg>gTg	p.A72V	TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	72					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.A72V(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GCTACAGATGCGTTAAGATGT	0.413																																						ENST00000367833.2																			1	Substitution - Missense(1)	p.A72V(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6						c.(214-216)gCg>gTg		TIP41, TOR signaling pathway regulator-like (S. cerevisiae)							129.0	117.0	121.0					1																	168153250		2203	4300	6503	SO:0001583	missense	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168153250C>T	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.215C>T	1.37:g.168153250C>T	ENSP00000356807:p.Ala72Val					TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN			2	360	+	all_hematologic(923;0.215)		72					B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	c.215C>T	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052861	0.93793	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.92459	3.31	0.44207	D	0.997032	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.87080	0.2165	8	0.54805	T	0.06	-24.9428	16.2331	0.82357	0.0:0.8666:0.1334:0.0	.	72;72	O75663;O75663-2	TIPRL_HUMAN;.	V	72	.	ENSP00000356804:A72V	A	+	2	0	TIPRL	166419874	1.000000	0.71417	0.873000	0.34254	0.964000	0.63967	7.380000	0.79704	1.369000	0.46134	0.655000	0.94253	GCG		0.413	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		72	325	0	0	0	1	0	72	325				
KRTAP12-2	353323	broad.mit.edu	37	21	46086509	46086509	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46086509A>T	ENST00000360770.3	-	1	335	c.295T>A	c.(295-297)Tcc>Acc	p.S99T	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	99	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGGAGGGGGCTGCA	0.642																																						ENST00000360770.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(295-297)Tcc>Acc		keratin associated protein 12-2							59.0	71.0	67.0					21																	46086509		2175	4258	6433	SO:0001583	missense	353323					keratin filament		g.chr21:46086509A>T	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.295T>A	21.37:g.46086509A>T	ENSP00000354001:p.Ser99Thr					TSPEAR_ENST00000323084.4_Intron	p.S99T	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN			1	335	-			99			23 X 5 AA approximate repeats.		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	c.295T>A	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	a	5.296	0.239909	0.10023	.	.	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.03468	3.92	3.47	-0.556	0.11803	.	.	.	.	.	T	0.09291	0.0229	M	0.84082	2.675	0.09310	N	1	P	0.51791	0.948	P	0.51918	0.684	T	0.15464	-1.0436	9	0.51188	T	0.08	.	3.0355	0.06121	0.4538:0.0:0.3497:0.1965	.	99	P59991	KR122_HUMAN	T	99;49	ENSP00000354001:S99T	ENSP00000354001:S99T	S	-	1	0	KRTAP12-2	44910937	0.976000	0.34144	0.010000	0.14722	0.388000	0.30384	0.038000	0.13862	0.009000	0.14813	0.379000	0.24179	TCC		0.642	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		33	300	0	0	0	1	0	33	300				
HAL	3034	broad.mit.edu	37	12	96386496	96386496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96386496G>A	ENST00000261208.3	-	9	1045	c.677C>T	c.(676-678)tCc>tTc	p.S226F	HAL_ENST00000541929.1_Missense_Mutation_p.S18F|HAL_ENST00000538703.1_Missense_Mutation_p.S226F|HAL_ENST00000551562.1_5'Flank	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	226					biosynthetic process (GO:0009058)|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)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGTCTCCAGGGAAATGCCACT	0.468																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(676-678)tCc>tTc		histidine ammonia-lyase	L-Histidine(DB00117)						178.0	146.0	157.0					12																	96386496		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96386496G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.677C>T	12.37:g.96386496G>A	ENSP00000261208:p.Ser226Phe					HAL_ENST00000538703.1_Missense_Mutation_p.S226F|HAL_ENST00000541929.1_Missense_Mutation_p.S18F	p.S226F	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			9	1045	-			226					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.677C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637203	0.87760	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.79	4.79	0.61399	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.93769	0.7073	10	0.87932	D	0	-14.7048	17.8357	0.88696	0.0:0.0:1.0:0.0	.	226;226	F5GXF2;P42357	.;HUTH_HUMAN	F	226;18;226;214;136	ENSP00000261208:S226F;ENSP00000446364:S18F;ENSP00000440861:S226F;ENSP00000450372:S214F;ENSP00000447543:S136F	ENSP00000261208:S226F	S	-	2	0	HAL	94910627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.357000	0.97099	2.198000	0.70561	0.561000	0.74099	TCC		0.468	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			120	463	0	0	0	1	0	120	463				
WNT3A	89780	broad.mit.edu	37	1	228246984	228246984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228246984C>T	ENST00000284523.1	+	4	955	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	293					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTTCGGCACGCGCGACCGCAC	0.692																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(877-879)Cgc>Tgc		wingless-type MMTV integration site family, member 3A							13.0	13.0	13.0					1																	228246984		2196	4295	6491	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228246984C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.877C>T	1.37:g.228246984C>T	ENSP00000284523:p.Arg293Cys					WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	p.R293C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			4	955	+		Prostate(94;0.0405)	293					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.877C>T	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216473	0.95104	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76839	-1.05;-1.05	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.67725	0.932;0.953	D	0.90820	0.4708	10	0.45353	T	0.12	.	17.9461	0.89039	0.0:1.0:0.0:0.0	.	293;293	P56704;Q3SY79	WNT3A_HUMAN;.	C	293	ENSP00000284523:R293C;ENSP00000355715:R293C	ENSP00000284523:R293C	R	+	1	0	WNT3A	226313607	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.783000	0.62403	2.300000	0.77407	0.491000	0.48974	CGC		0.692	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		20	57	0	0	0	1	0	20	57				
ZNF783	100289678	broad.mit.edu	37	7	148984734	148984734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148984734C>A	ENST00000418158.2	+	2	265	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	ZNF783_ENST00000489518.1_3'UTR|SNORD112_ENST00000516748.1_RNA|RP4-800G7.2_ENST00000416232.1_RNA			Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ATCGTGGCTGCTGTTCAGGTG	0.587																																						ENST00000418158.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(103-105)Ctg>Atg		zinc finger family member 783																																				SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148984734C>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000418158.2:c.103C>A	7.37:g.148984734C>A	ENSP00000391817:p.Leu35Met					ZNF783_ENST00000489518.1_3'UTR	p.L35M			C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		2	265	+	Melanoma(164;0.15)		292					C9J9J2	Missense_Mutation	SNP	ENST00000418158.2	37	c.103C>A		.	.	.	.	.	.	.	.	.	.	C	12.17	1.858101	0.32791	.	.	ENSG00000204946	ENST00000418158	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	T	0.56016	0.1957	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.59889	0.865	T	0.46498	-0.9187	7	0.87932	D	0	.	11.2914	0.49252	0.0:1.0:0.0:0.0	.	35	E7ENX7	.	M	35	.	ENSP00000391817:L35M	L	+	1	2	ZNF783	148615667	0.005000	0.15991	0.002000	0.10522	0.043000	0.13939	0.914000	0.28624	2.032000	0.59987	0.491000	0.48974	CTG		0.587	ZNF783-201	KNOWN	basic	protein_coding	protein_coding		NM_001195220		13	42	1	0	9.31168e-06	1	9.55451e-06	13	42				
DCPS	28960	broad.mit.edu	37	11	126213270	126213270	+	Silent	SNP	G	G	A	rs577236215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126213270G>A	ENST00000263579.4	+	5	1034	c.705G>A	c.(703-705)ccG>ccA	p.P235P	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	235					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		ACCTTACTCCGGAGCACTTGC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19452	0.0		0.0	False		,,,				2504	0.0					ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(703-705)ccG>ccA		decapping enzyme, scavenger							72.0	54.0	60.0					11																	126213270		2201	4298	6499	SO:0001819	synonymous_variant	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126213270G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.705G>A	11.37:g.126213270G>A						DCPS_ENST00000530860.1_3'UTR	p.P235P	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	5	1034	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	235					Q8NHL8|Q9Y2S5	Silent	SNP	ENST00000263579.4	37	c.705G>A	CCDS8473.1																																																																																				0.572	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		6	152	0	0	0	1	0	6	152				
PKD1	5310	broad.mit.edu	37	16	2168027	2168027	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168027C>T	ENST00000262304.4	-	5	1174	c.966G>A	c.(964-966)tcG>tcA	p.S322S	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.S322S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	322	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CATAGCGATGCGAGGCAGCCG	0.701																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(964-966)tcG>tcA		polycystic kidney disease 1 (autosomal dominant)							4.0	5.0	5.0					16																	2168027		1874	3896	5770	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2168027C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.966G>A	16.37:g.2168027C>T						PKD1_ENST00000423118.1_Silent_p.S322S	p.S322S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			5	1174	-			322			PKD 1.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.966G>A	CCDS32369.1																																																																																				0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			42	109	0	0	0	1	0	42	109				
CNOT6L	246175	broad.mit.edu	37	4	78650176	78650176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650176G>A	ENST00000504123.1	-	10	1214	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	362	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGGTCCCAATGCATGTGGGCA	0.408																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1084-1086)Cat>Tat		CCR4-NOT transcription complex, subunit 6-like							111.0	105.0	107.0					4																	78650176		1858	4089	5947	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650176G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1084C>T	4.37:g.78650176G>A	ENSP00000424896:p.His362Tyr					CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y	p.H362Y			Q96LI5	CNO6L_HUMAN			10	1214	-			362					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1084C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.042181|4.042181	0.75732|0.75732	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87297|0.87297	0.6142|0.6142	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.565	.|D;P	.|0.87578	.|0.998;0.77	D|D	0.85435|0.85435	0.1151|0.1151	5|10	.|0.39692	.|T	.|0.17	-4.3727|-4.3727	19.8926|19.8926	0.96935|0.96935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|335;362	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	V|Y	390|362;362;369;137	.|ENSP00000424896:H362Y;ENSP00000264903:H362Y;ENSP00000425571:H369Y;ENSP00000426320:H137Y	.|ENSP00000264903:H362Y	A|H	-|-	2|1	0|0	CNOT6L|CNOT6L	78869200|78869200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.709000|2.709000	0.92574|0.92574	0.563000|0.563000	0.77884|0.77884	GCA|CAT		0.408	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			92	451	0	0	0	1	0	92	451				
TTN	7273	broad.mit.edu	37	2	179610329	179610329	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179610329C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A5600T			Q8WZ42	TITIN_HUMAN	titin						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)			AAGGTGAGTGCTGCAAAGCTC	0.353																																						ENST00000360870.5																			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.(16798-16800)Gca>Aca		titin							75.0	70.0	71.0					2																	179610329		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610329C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3681G>A	2.37:g.179610329C>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.A5600T	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	17020	-			9070					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.16798G>A		.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542653	0.04053	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.65364	-0.15	6.04	-3.44	0.04796	.	.	.	.	.	T	0.26666	0.0652	N	0.02169	-0.655	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24799	-1.0150	9	0.12766	T	0.61	.	6.2447	0.20810	0.2474:0.277:0.0:0.4756	.	5600	Q8WZ42-6	.	T	5600;881	ENSP00000354117:A5600T	ENSP00000304714:A881T	A	-	1	0	TTN	179318574	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.205000	0.09411	-0.569000	0.06030	-0.251000	0.11542	GCA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	292	0	0	0	1	0	20	292				
FOCAD	54914	broad.mit.edu	37	9	20781925	20781925	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20781925A>G	ENST00000380249.1	+	12	1558	c.1194A>G	c.(1192-1194)caA>caG	p.Q398Q	FOCAD_ENST00000338382.6_Silent_p.Q398Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	398						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ATGACCACCAAAAGGTAATGA	0.403																																						ENST00000380249.1																			0											c.(1192-1194)caA>caG		focadhesin							100.0	90.0	93.0					9																	20781925		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20781925A>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1194A>G	9.37:g.20781925A>G						FOCAD_ENST00000338382.6_Silent_p.Q398Q	p.Q398Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			12	1558	+			398					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.1194A>G	CCDS34993.1																																																																																				0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		55	213	0	0	0	1	0	55	213				
PKHD1L1	93035	broad.mit.edu	37	8	110408262	110408262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110408262C>T	ENST00000378402.5	+	11	922	c.818C>T	c.(817-819)aCc>aTc	p.T273I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	273	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAGAGGTCACCATGATTTTC	0.383										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(817-819)aCc>aTc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							59.0	51.0	53.0					8																	110408262		1973	4170	6143	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110408262C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.818C>T	8.37:g.110408262C>T	ENSP00000367655:p.Thr273Ile	HNSCC(38;0.096)					p.T273I	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		11	922	+			273			IPT/TIG 3.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.818C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388695	0.25118	.	.	ENSG00000205038	ENST00000378402	T	0.79247	-1.25	5.8	3.94	0.45596	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.192761	0.43579	D	0.000543	D	0.83166	0.5195	M	0.83384	2.64	0.58432	D	0.999996	D	0.53151	0.958	P	0.53988	0.739	T	0.80910	-0.1171	10	0.31617	T	0.26	.	10.0449	0.42180	0.0:0.7851:0.1381:0.0767	.	273	Q86WI1	PKHL1_HUMAN	I	273	ENSP00000367655:T273I	ENSP00000367655:T273I	T	+	2	0	PKHD1L1	110477438	0.967000	0.33354	0.404000	0.26397	0.024000	0.10985	2.277000	0.43417	0.740000	0.32651	0.650000	0.86243	ACC		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	47	0	0	0	1	0	11	47				
DCDC1	341019	broad.mit.edu	37	11	31312288	31312288	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31312288A>C	ENST00000452803.1	-	7	1067	c.866T>G	c.(865-867)cTt>cGt	p.L289R	DCDC1_ENST00000597505.1_Missense_Mutation_p.L289R	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	289					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTCTCAGTAAGTTTCTTCAT	0.378																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(865-867)cTt>cGt		doublecortin domain containing 1							84.0	85.0	85.0					11																	31312288		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31312288A>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.866T>G	11.37:g.31312288A>C	ENSP00000389792:p.Leu289Arg					DCDC1_ENST00000452803.1_Missense_Mutation_p.L289R	p.L289R			P59894	DCDC1_HUMAN			5	865	-	Lung SC(675;0.225)		289					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.866T>G	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436480	0.62955	.	.	ENSG00000188682	ENST00000452803	D	0.93659	-3.26	5.26	4.06	0.47325	Doublecortin domain (1);	0.000000	0.44902	D	0.000419	D	0.94095	0.8107	M	0.72894	2.215	0.27403	N	0.954804	D	0.59357	0.985	P	0.53760	0.734	D	0.89469	0.3742	10	0.87932	D	0	-21.493	10.7159	0.46013	0.8585:0.0:0.0:0.1415	.	289	P59894	DCDC1_HUMAN	R	289	ENSP00000389792:L289R	ENSP00000389792:L289R	L	-	2	0	DCDC1	31268864	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.673000	0.46858	2.105000	0.64084	0.533000	0.62120	CTT		0.378	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		26	298	0	0	0	1	0	26	298				
NCAPD2	9918	broad.mit.edu	37	12	6623541	6623541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6623541G>A	ENST00000315579.5	+	7	1497	c.698G>A	c.(697-699)cGt>cAt	p.R233H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	233	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCCTTGACCCGTTATAACCAT	0.488																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(697-699)cGt>cAt		non-SMC condensin I complex, subunit D2							177.0	176.0	176.0					12																	6623541		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6623541G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.698G>A	12.37:g.6623541G>A	ENSP00000325017:p.Arg233His					NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	p.R233H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			7	1497	+			233			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.698G>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044904	0.36085	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.88896	-2.44;-2.44;-2.44	5.79	4.9	0.64082	Condensin complex, subunit 1, N-terminal (1);	0.169936	0.52532	N	0.000077	D	0.84915	0.5578	L	0.40543	1.245	0.27882	N	0.939653	B;B;B	0.30146	0.078;0.27;0.142	B;B;B	0.37989	0.014;0.262;0.056	T	0.74057	-0.3787	10	0.17832	T	0.49	-5.5111	11.5501	0.50716	0.154:0.0:0.846:0.0	.	188;194;233	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	233;105;188;105	ENSP00000325017:R233H;ENSP00000371895:R105H;ENSP00000444417:R188H	ENSP00000325017:R233H	R	+	2	0	NCAPD2	6493802	0.998000	0.40836	0.034000	0.17996	0.901000	0.52897	4.150000	0.58098	1.451000	0.47736	0.643000	0.83706	CGT		0.488	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		96	977	0	0	0	1	0	96	977				
DGKQ	1609	broad.mit.edu	37	4	962266	962266	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:962266C>T	ENST00000273814.3	-	4	611		c.e4+1		DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa						blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTACACTCACGTGATCCTGG	0.701																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.e4+1		diacylglycerol kinase, theta 110kDa							16.0	18.0	17.0					4																	962266		2182	4285	6467	SO:0001630	splice_region_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:962266C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.537+1G>A	4.37:g.962266C>T								NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	611	-								Q6P3W4	Splice_Site	SNP	ENST00000273814.3	37		CCDS3342.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.047660	0.36085	.	.	ENSG00000145214	ENST00000273814;ENST00000509465;ENST00000510286	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7929	0.69857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKQ	952266	1.000000	0.71417	0.854000	0.33618	0.061000	0.15899	5.246000	0.65411	2.052000	0.61016	0.556000	0.70494	.		0.701	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		Intron	14	45	0	0	0	1	0	14	45				
OR4A5	81318	broad.mit.edu	37	11	51411931	51411931	+	Silent	SNP	C	C	T	rs140587389	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21566	0.002		0.0	False		,,,				2504	0.0					ENST00000319760.6																			1	Substitution - coding silent(1)	p.A155A(1)	NS(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(463-465)gcG>gcA		olfactory receptor, family 4, subfamily A, member 5		C		3,4399		0,3,2198	86.0	78.0	81.0		465	0.9	0.0	11	dbSNP_134	81	1,8591		0,1,4295	no	coding-synonymous	OR4A5	NM_001005272.3		0,4,6493	TT,TC,CC		0.0116,0.0682,0.0308		155/316	51411931	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411931C>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.465G>A	11.37:g.51411931C>T							p.A155A	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	517	-		all_lung(304;0.236)	155					Q6IF84	Silent	SNP	ENST00000319760.6	37	c.465G>A	CCDS31497.1																																																																																				0.453	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		56	238	0	0	0	1	0	56	238				
SMARCC1	6599	broad.mit.edu	37	3	47742803	47742803	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47742803A>G	ENST00000254480.5	-	11	1249	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	377					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TATATTGGGTACAGGTGTTGG	0.398																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1129-1131)gTa>gCa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							176.0	164.0	168.0					3																	47742803		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47742803A>G	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1130T>C	3.37:g.47742803A>G	ENSP00000254480:p.Val377Ala					SMARCC1_ENST00000425518.1_5'UTR	p.V377A	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	11	1249	-			377					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1130T>C	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.212239	0.39102	.	.	ENSG00000173473	ENST00000254480	T	0.44881	0.91	5.62	5.62	0.85841	.	0.050986	0.85682	D	0.000000	T	0.44138	0.1279	M	0.64404	1.975	0.38441	D	0.946719	P	0.36753	0.568	B	0.38106	0.265	T	0.46624	-0.9178	10	0.35671	T	0.21	-20.6406	14.9784	0.71293	1.0:0.0:0.0:0.0	.	377	Q92922	SMRC1_HUMAN	A	377	ENSP00000254480:V377A	ENSP00000254480:V377A	V	-	2	0	SMARCC1	47717807	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.188000	0.65093	2.263000	0.75096	0.524000	0.50904	GTA		0.398	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			61	284	0	0	0	1	0	61	284				
OBSL1	23363	broad.mit.edu	37	2	220424002	220424002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220424002G>A	ENST00000404537.1	-	9	3227	c.3171C>T	c.(3169-3171)ggC>ggT	p.G1057G	OBSL1_ENST00000603926.1_Silent_p.G1057G|OBSL1_ENST00000265317.5_Silent_p.G48G|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Silent_p.G1057G|OBSL1_ENST00000265318.4_Silent_p.G1057G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1057	Ig-like 8.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.G1057G(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ATACAAACTCGCCCCCGTCCT	0.627																																						ENST00000404537.1																			1	Substitution - coding silent(1)	p.G1057G(1)	lung(1)								c.(3169-3171)ggC>ggT		obscurin-like 1							104.0	118.0	113.0					2																	220424002		2191	4275	6466	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220424002G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3171C>T	2.37:g.220424002G>A						RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Silent_p.G48G|OBSL1_ENST00000265318.4_Silent_p.G1057G|OBSL1_ENST00000603926.1_Silent_p.G1057G|OBSL1_ENST00000373876.1_Silent_p.G1057G	p.G1057G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	9	3227	-		Renal(207;0.0376)	1057			Ig-like 8.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.3171C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	0.360	-0.939949	0.02322	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.34	0.0779	0.14410	.	.	.	.	.	T	0.57946	0.2088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52094	-0.8621	4	.	.	.	.	10.546	0.45060	0.0:0.34:0.4822:0.1779	.	.	.	.	V	51	.	.	A	-	2	0	OBSL1	220132246	0.958000	0.32768	0.997000	0.53966	0.051000	0.14879	0.087000	0.14958	-0.098000	0.12285	-2.717000	0.00132	GCG		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			132	679	0	0	0	1	0	132	679				
PKD1	5310	broad.mit.edu	37	16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4639-4641)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)							43.0	48.0	46.0					16																	2160529		2195	4289	6484	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160529G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4639C>T	16.37:g.2160529G>A	ENSP00000262304:p.Arg1547Cys					PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	p.R1547C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4847	-			1547			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4639C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.168603	0.38315	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.67698	-0.28;-0.28	5.36	3.38	0.38709	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.126247	0.53938	D	0.000057	T	0.78162	0.4240	M	0.69823	2.125	0.35442	D	0.794935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.943	T	0.82657	-0.0349	10	0.62326	D	0.03	.	10.3323	0.43829	0.0706:0.0:0.794:0.1353	.	1547;1547	P98161-3;P98161	.;PKD1_HUMAN	C	1547	ENSP00000262304:R1547C;ENSP00000399501:R1547C	ENSP00000262304:R1547C	R	-	1	0	PKD1	2100530	0.998000	0.40836	0.049000	0.19019	0.014000	0.08584	3.743000	0.55104	0.632000	0.30432	0.550000	0.68814	CGC		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			123	460	0	0	0	1	0	123	460				
CNNM4	26504	broad.mit.edu	37	2	97427765	97427765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427765G>T	ENST00000377075.2	+	1	1127	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	343	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTGATGGAGATGTTGAAGG	0.498																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1027-1029)gaG>gaT		cyclin M4							95.0	91.0	93.0					2																	97427765		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427765G>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1029G>T	2.37:g.97427765G>T	ENSP00000366275:p.Glu343Asp						p.E343D	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	1127	+			343			DUF21.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1029G>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206442	0.58343	.	.	ENSG00000158158	ENST00000377075	D	0.88741	-2.42	5.03	3.25	0.37280	Domain of unknown function DUF21 (1);	0.183995	0.46758	D	0.000264	D	0.90954	0.7156	M	0.84511	2.7	0.80722	D	1	P	0.36110	0.537	P	0.45406	0.479	D	0.88804	0.3287	10	0.59425	D	0.04	-18.7157	8.2718	0.31849	0.2505:0.0:0.7495:0.0	.	343	Q6P4Q7	CNNM4_HUMAN	D	343	ENSP00000366275:E343D	ENSP00000366275:E343D	E	+	3	2	CNNM4	96791492	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.509000	0.53386	0.538000	0.28769	-0.749000	0.03505	GAG		0.498	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		98	320	1	0	4.98208e-43	1	6.07636e-43	98	320				
ABHD15	116236	broad.mit.edu	37	17	27893616	27893616	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27893616G>T	ENST00000307201.4	-	1	539	c.369C>A	c.(367-369)gcC>gcA	p.A123A	TP53I13_ENST00000301057.7_5'Flank|TP53I13_ENST00000584522.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	123						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTACTCCCGGGCCAGCTCAG	0.716																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(367-369)gcC>gcA		abhydrolase domain containing 15							26.0	23.0	24.0					17																	27893616		2193	4277	6470	SO:0001819	synonymous_variant	116236					extracellular region	carboxylesterase activity	g.chr17:27893616G>T	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.369C>A	17.37:g.27893616G>T						RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_Intron	p.A123A	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			1	539	-			123					Q96EC5	Silent	SNP	ENST00000307201.4	37	c.369C>A	CCDS32602.1																																																																																				0.716	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		31	156	1	0	1.36615e-20	1	1.53219e-20	31	156				
EHD3	30845	broad.mit.edu	37	2	31483688	31483688	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483688A>C	ENST00000322054.5	+	4	1100	c.815A>C	c.(814-816)gAg>gCg	p.E272A	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	272	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAGCTCTTTGAGGCTGAGGAA	0.587																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(814-816)gAg>gCg		EH-domain containing 3							81.0	84.0	83.0					2																	31483688		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483688A>C	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.815A>C	2.37:g.31483688A>C	ENSP00000327116:p.Glu272Ala					EHD3_ENST00000541626.1_Intron	p.E272A	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			4	1100	+	Acute lymphoblastic leukemia(172;0.155)		272					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.815A>C	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728124	0.69074	.	.	ENSG00000013016	ENST00000322054	D	0.95885	-3.84	4.97	4.97	0.65823	.	0.094049	0.64402	D	0.000001	D	0.97145	0.9067	M	0.83223	2.63	0.80722	D	1	D	0.57899	0.981	P	0.58454	0.839	D	0.97595	1.0119	10	0.62326	D	0.03	-46.8045	14.8417	0.70230	1.0:0.0:0.0:0.0	.	272	Q9NZN3	EHD3_HUMAN	A	272	ENSP00000327116:E272A	ENSP00000327116:E272A	E	+	2	0	EHD3	31337192	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.139000	0.94554	2.090000	0.63153	0.459000	0.35465	GAG		0.587	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		44	567	0	0	0	1	0	44	567				
C5orf42	65250	broad.mit.edu	37	5	37187589	37187589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187589C>T	ENST00000508244.1	-	22	4100	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q|C5orf42_ENST00000274258.7_Missense_Mutation_p.R217Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1336			R -> W (in JBTS17). {ECO:0000269|PubMed:22425360}.			integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATTAAAAAACCGAGAGAAAGG	0.378																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(649-651)cGg>cAg		chromosome 5 open reading frame 42							81.0	81.0	81.0					5																	37187589		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37187589C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4007G>A	5.37:g.37187589C>T	ENSP00000421690:p.Arg1336Gln					C5orf42_ENST00000508244.1_Missense_Mutation_p.R1336Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q	p.R217Q			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		23	4237	-	all_lung(31;0.000616)		1336					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.650G>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	35	5.421270	0.96111	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27256	1.72;1.72;1.68;1.69	5.53	5.53	0.82687	.	0.000000	0.40640	N	0.001043	T	0.40694	0.1127	N	0.24115	0.695	0.35035	D	0.759169	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49542	-0.8929	10	0.62326	D	0.03	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	1336;217	E9PH94;Q9H799	.;CE042_HUMAN	Q	1336;1336;217;384;217	ENSP00000421690:R1336Q;ENSP00000389014:R1336Q;ENSP00000274258:R217Q;ENSP00000424223:R384Q	ENSP00000274258:R217Q	R	-	2	0	C5orf42	37223346	0.998000	0.40836	0.998000	0.56505	0.977000	0.68977	3.992000	0.56980	2.755000	0.94549	0.491000	0.48974	CGG		0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		41	234	0	0	0	1	0	41	234				
GCH1	2643	broad.mit.edu	37	14	55326402	55326402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55326402G>A	ENST00000491895.2	-	3	694	c.506C>T	c.(505-507)gCg>gTg	p.A169V	RNU6ATAC9P_ENST00000516210.1_RNA|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Missense_Mutation_p.A169V|GCH1_ENST00000536224.2_Missense_Mutation_p.A169V|GCH1_ENST00000543643.2_Missense_Mutation_p.A169V	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	169					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)	p.A169E(1)		endometrium(2)|lung(7)|skin(2)	11						CACTTACCTCGCAAGTTTGCT	0.438																																					Pancreas(198;1245 2204 4807 21567 38372)	ENST00000491895.2																			1	Substitution - Missense(1)	p.A169E(1)	endometrium(1)	endometrium(2)|lung(7)|skin(2)	11						c.(505-507)gCg>gTg		GTP cyclohydrolase 1							125.0	108.0	114.0					14																	55326402		2203	4300	6503	SO:0001583	missense	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.chr14:55326402G>A	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.506C>T	14.37:g.55326402G>A	ENSP00000419045:p.Ala169Val					GCH1_ENST00000543643.2_Missense_Mutation_p.A169V|GCH1_ENST00000536224.2_Missense_Mutation_p.A169V|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Missense_Mutation_p.A169V	p.A169V	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN			3	694	-			169					Q6FHY7|Q9Y4I8	Missense_Mutation	SNP	ENST00000491895.2	37	c.506C>T	CCDS9720.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608521	0.87258	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8	5.1	4.19	0.49359	GTP cyclohydrolase I/Nitrile oxidoreductase (1);	0.051000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.937;0.962	D	0.97246	0.9894	10	0.66056	D	0.02	.	14.7219	0.69314	0.0:0.1456:0.8544:0.0	.	169;169;169;169	F8W9F6;P30793-2;P30793-4;P30793	.;.;.;GCH1_HUMAN	V	169	ENSP00000378890:A169V;ENSP00000444011:A169V;ENSP00000419045:A169V;ENSP00000445246:A169V	ENSP00000378890:A169V	A	-	2	0	GCH1	54396152	1.000000	0.71417	0.870000	0.34147	0.796000	0.44982	9.203000	0.95033	1.339000	0.45563	0.561000	0.74099	GCG		0.438	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3			41	164	0	0	0	1	0	41	164				
PCDHA9	9752	broad.mit.edu	37	5	140242614	140242614	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140242614G>A	ENST00000532602.1	+	1	3427				PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000504120.2_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.A121V|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGCAACAGCTGCATCTGT	0.637																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(361-363)gCt>gTt																																						SO:0001627	intron_variant	0							g.chr5:140242614G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12140G>A	5.37:g.140242614G>A						PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron	p.A121V							1	610	-								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.362C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723403	0.15439	.	.	ENSG00000249034	ENST00000502505	.	.	.	4.21	3.34	0.38264	.	.	.	.	.	T	0.43986	0.1272	.	.	.	0.80722	D	1	P	0.36412	0.552	B	0.37650	0.255	T	0.37174	-0.9717	7	0.51188	T	0.08	.	7.1177	0.25427	0.0883:0.0:0.7423:0.1694	.	121	Q8NB83	.	V	121	.	ENSP00000424817:A121V	A	-	2	0	AC005609.17	140222798	0.494000	0.26043	0.982000	0.44146	0.014000	0.08584	0.817000	0.27281	0.983000	0.38602	0.313000	0.20887	GCT		0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		29	128	0	0	0	1	0	29	128				
NPHP4	261734	broad.mit.edu	37	1	5964847	5964847	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5964847C>T	ENST00000378156.4	-	16	2238	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	658					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGTTCCTCGGCAGTCCTG	0.547																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1972-1974)cGa>cAa		nephronophthisis 4							115.0	117.0	117.0					1																	5964847		2094	4225	6319	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5964847C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1973G>A	1.37:g.5964847C>T	ENSP00000367398:p.Arg658Gln					NPHP4_ENST00000478423.2_5'UTR	p.R658Q	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	16	2238	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	658					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1973G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781207	0.16120	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86865	-2.18	5.1	-1.94	0.07571	.	1.397130	0.04674	N	0.411192	T	0.64305	0.2586	N	0.02539	-0.55	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.55798	-0.8084	10	0.10636	T	0.68	.	2.8422	0.05533	0.1131:0.4045:0.3466:0.1358	.	658	O75161	NPHP4_HUMAN	Q	658;61	ENSP00000367398:R658Q	ENSP00000367398:R658Q	R	-	2	0	NPHP4	5887434	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	-0.677000	0.05215	-0.771000	0.04608	0.655000	0.94253	CGA		0.547	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			43	425	0	0	0	1	0	43	425				
XDH	7498	broad.mit.edu	37	2	31588402	31588402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31588402C>T	ENST00000379416.3	-	23	2513	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	822					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TCGCACAGGGCGGCCGGTCCT	0.557																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2464-2466)cGc>cAc		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						104.0	93.0	96.0					2																	31588402		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31588402C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2465G>A	2.37:g.31588402C>T	ENSP00000368727:p.Arg822His						p.R822H	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			23	2513	-	Acute lymphoblastic leukemia(172;0.155)		822					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2465G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910494	0.33721	.	.	ENSG00000158125	ENST00000379416	T	0.57436	0.4	6.17	5.25	0.73442	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.206565	0.50627	N	0.000113	T	0.60143	0.2246	M	0.86343	2.81	0.58432	D	0.999997	B	0.22800	0.075	B	0.23852	0.049	T	0.60193	-0.7311	10	0.39692	T	0.17	.	14.7869	0.69810	0.0:0.9275:0.0:0.0725	.	822	P47989	XDH_HUMAN	H	822	ENSP00000368727:R822H	ENSP00000368727:R822H	R	-	2	0	XDH	31441906	0.103000	0.21917	0.817000	0.32601	0.180000	0.23129	1.648000	0.37271	1.515000	0.48885	0.655000	0.94253	CGC		0.557	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		106	479	0	0	0	1	0	106	479				
FAH	2184	broad.mit.edu	37	15	80478528	80478528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80478528C>T	ENST00000407106.1	+	15	1392	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	FAH_ENST00000539156.1_Silent_p.L343L|FAH_ENST00000561421.1_Silent_p.L413L|FAH_ENST00000261755.5_Silent_p.L413L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	413					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAAAAGTGCTGCCTGCTCT	0.562									Tyrosinemia, type 1																													ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1027-1029)Ctg>Ttg		fumarylacetoacetate hydrolase (fumarylacetoacetase)							159.0	133.0	142.0					15																	80478528		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80478528C>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.1237C>T	15.37:g.80478528C>T						FAH_ENST00000407106.1_Silent_p.L413L|FAH_ENST00000261755.5_Silent_p.L413L|FAH_ENST00000561421.1_Silent_p.L413L	p.L343L			P16930	FAAA_HUMAN			13	3265	+			413					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.1027C>T	CCDS10314.1																																																																																				0.562	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			63	273	0	0	0	1	0	63	273				
ZNF207	7756	broad.mit.edu	37	17	30696771	30696771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30696771G>A	ENST00000321233.6	+	11	1584	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF207_ENST00000577908.1_Intron|ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H|ZNF207_ENST00000394670.4_Missense_Mutation_p.R493H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	477					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R477L(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAGGTGGCCGTTACTGATCT	0.507																																						ENST00000394670.4																			1	Substitution - Missense(1)	p.R477L(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1477-1479)cGt>cAt		zinc finger protein 207							82.0	71.0	75.0					17																	30696771		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30696771G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1430G>A	17.37:g.30696771G>A	ENSP00000322777:p.Arg477His					ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000577908.1_Intron|ZNF207_ENST00000321233.6_Missense_Mutation_p.R477H	p.R493H	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		12	1647	+		Breast(31;0.116)|Ovarian(249;0.182)	477					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1478G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848845	0.51164	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T	0.53640	0.64;0.73;0.61	5.65	4.69	0.59074	.	.	.	.	.	T	0.49406	0.1555	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62560	0.904;0.904;0.904;0.904	T	0.58075	-0.7700	9	0.87932	D	0	.	14.8335	0.70166	0.0692:0.0:0.9308:0.0	.	446;493;462;477	A8MTG3;E1P660;O43670-2;O43670	.;.;.;ZN207_HUMAN	H	493;446;462;394;477	ENSP00000378165:R493H;ENSP00000322777:R462H;ENSP00000344913:R394H	ENSP00000322777:R462H	R	+	2	0	ZNF207	27720884	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.004000	0.88535	1.406000	0.46857	-0.320000	0.08662	CGT		0.507	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			33	221	0	0	0	1	0	33	221				
ATP9A	10079	broad.mit.edu	37	20	50305609	50305609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50305609C>T	ENST00000338821.5	-	9	1057	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	265					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACCTGATGCGACCACAGTG	0.483																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(793-795)Gca>Aca		ATPase, class II, type 9A							148.0	153.0	151.0					20																	50305609		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50305609C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.793G>A	20.37:g.50305609C>T	ENSP00000342481:p.Ala265Thr					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.A265T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			9	1057	-			265					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.793G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003612	0.74932	.	.	ENSG00000054793	ENST00000338821	D	0.90444	-2.67	5.26	5.26	0.73747	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.95197	0.8313	10	0.62326	D	0.03	-19.9054	18.8514	0.92232	0.0:1.0:0.0:0.0	.	265	O75110	ATP9A_HUMAN	T	265	ENSP00000342481:A265T	ENSP00000342481:A265T	A	-	1	0	ATP9A	49739016	1.000000	0.71417	0.106000	0.21319	0.299000	0.27559	7.439000	0.80444	2.437000	0.82529	0.591000	0.81541	GCA		0.483	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		84	1026	0	0	0	1	0	84	1026				
HEMK1	51409	broad.mit.edu	37	3	50608542	50608542	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50608542C>A	ENST00000232854.4	+	2	559	c.7C>A	c.(7-9)Ctt>Att	p.L3I	HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I|HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I|C3orf18_ENST00000449241.1_5'Flank	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	3					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AGACATGGAGCTTTGGGGCCG	0.612																																						ENST00000232854.4																			0				lung(3)	3						c.(7-9)Ctt>Att		HemK methyltransferase family member 1							39.0	46.0	44.0					3																	50608542		2203	4300	6503	SO:0001583	missense	51409				DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity	g.chr3:50608542C>A	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.7C>A	3.37:g.50608542C>A	ENSP00000232854:p.Leu3Ile					HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I|HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I	p.L3I	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)	2	559	+			3						Missense_Mutation	SNP	ENST00000232854.4	37	c.7C>A	CCDS2830.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452860	0.43531	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.19806	2.12;2.12;2.12	5.41	3.55	0.40652	.	0.555495	0.16504	N	0.211525	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.25405	0.06	T	0.27297	-1.0078	10	0.33940	T	0.23	-0.1948	9.0888	0.36598	0.0:0.8172:0.0:0.1828	.	3	Q9Y5R4	HEMK1_HUMAN	I	3	ENSP00000404843:L3I;ENSP00000232854:L3I;ENSP00000404334:L3I	ENSP00000232854:L3I	L	+	1	0	HEMK1	50583546	0.001000	0.12720	0.005000	0.12908	0.211000	0.24417	0.129000	0.15830	0.599000	0.29845	0.561000	0.74099	CTT		0.612	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		27	336	1	0	2.48779e-11	1	2.65321e-11	27	336				
GPR125	166647	broad.mit.edu	37	4	22422568	22422568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22422568C>A	ENST00000334304.5	-	12	2019	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	584					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCTGCTTATCCAGGTTTCCC	0.448																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1750-1752)Gat>Tat		G protein-coupled receptor 125							213.0	218.0	216.0					4																	22422568		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22422568C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1750G>T	4.37:g.22422568C>A	ENSP00000334952:p.Asp584Tyr					GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y	p.D584Y	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			12	2019	-		Breast(46;0.198)	584					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1750G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070604	0.76301	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.65364	0.42;-0.15	5.1	5.1	0.69264	.	0.106348	0.64402	D	0.000006	T	0.77519	0.4142	M	0.61703	1.905	0.80722	D	1	B;D;D;P	0.76494	0.063;0.999;0.997;0.769	B;D;D;B	0.71414	0.05;0.973;0.923;0.384	T	0.79820	-0.1642	10	0.87932	D	0	-33.5045	18.8818	0.92358	0.0:1.0:0.0:0.0	.	459;584;358;584	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	Y	584;358;584	ENSP00000334952:D584Y;ENSP00000421006:D584Y	ENSP00000334952:D584Y	D	-	1	0	GPR125	22031666	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	6.591000	0.74090	2.515000	0.84797	0.655000	0.94253	GAT		0.448	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			38	1183	1	0	1.30897e-18	1	1.45408e-18	38	1183				
PRUNE2	158471	broad.mit.edu	37	9	79319009	79319009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79319009C>T	ENST00000376718.3	-	9	7643	c.7520G>A	c.(7519-7521)aGc>aAc	p.S2507N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S2148N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2507					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATTTCCTTGCTGGCACCTAG	0.358																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6442-6444)aGc>aAc		prune homolog 2 (Drosophila)							99.0	90.0	93.0					9																	79319009		1568	3581	5149	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79319009C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7520G>A	9.37:g.79319009C>T	ENSP00000365908:p.Ser2507Asn					PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2507N	p.S2148N			Q8WUY3	PRUN2_HUMAN			9	7643	-			2507					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6443G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278327	0.23307	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.45668	0.89;0.89	5.76	-2.51	0.06365	.	1.083170	0.06998	N	0.822869	T	0.32734	0.0839	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38200	-0.9672	10	0.48119	T	0.1	-0.0214	6.4439	0.21865	0.1272:0.3784:0.0:0.4944	.	2507	Q8WUY3	PRUN2_HUMAN	N	2507;2148;2506	ENSP00000365908:S2507N;ENSP00000397425:S2148N	ENSP00000365908:S2507N	S	-	2	0	PRUNE2	78508829	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	-0.479000	0.06567	-0.144000	0.11314	0.655000	0.94253	AGC		0.358	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		66	349	0	0	0	1	0	66	349				
ATM	472	broad.mit.edu	37	11	108201008	108201008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108201008C>T	ENST00000452508.2	+	51	7564	c.7375C>T	c.(7375-7377)Cgt>Tgt	p.R2459C	ATM_ENST00000278616.4_Missense_Mutation_p.R2459C|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2459	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAAAGAGGATCGTAAACGCTT	0.393			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7375-7377)Cgt>Tgt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							125.0	128.0	127.0					11																	108201008		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108201008C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7375C>T	11.37:g.108201008C>T	ENSP00000388058:p.Arg2459Cys	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R2459C|C11orf65_ENST00000525729.1_Intron	p.R2459C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	50	7760	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2459			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7375C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749141	0.69533	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83591	-1.74;-1.74	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.048185	0.85682	D	0.000000	D	0.89694	0.6789	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90611	0.4552	10	0.87932	D	0	.	12.1357	0.53970	0.1713:0.8287:0.0:0.0	.	2459	Q13315	ATM_HUMAN	C	2459	ENSP00000278616:R2459C;ENSP00000388058:R2459C	ENSP00000278616:R2459C	R	+	1	0	ATM	107706218	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.303000	0.33470	2.293000	0.77203	0.561000	0.74099	CGT		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		74	308	0	0	0	1	0	74	308				
CTSE	1510	broad.mit.edu	37	1	206319192	206319192	+	Missense_Mutation	SNP	C	C	A	rs377729989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206319192C>A	ENST00000358184.2	+	3	435	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y|CTSE_ENST00000361052.3_Missense_Mutation_p.S106Y|CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	106					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGGTCCCCTCTGTGTACTGC	0.582																																						ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(316-318)tCt>tAt		cathepsin E							94.0	83.0	87.0					1																	206319192		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206319192C>A	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.317C>A	1.37:g.206319192C>A	ENSP00000350911:p.Ser106Tyr					CTSE_ENST00000358184.2_Missense_Mutation_p.S106Y|CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y|CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y	p.S106Y			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		3	435	+			106					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.317C>A	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289747	0.80914	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.62788	-0.0;-0.0;0.06;0.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	D	0.85062	0.5611	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.993	D	0.89303	0.3627	10	0.87932	D	0	.	17.9775	0.89131	0.0:1.0:0.0:0.0	.	31;106;106	B4DNU8;P14091-2;P14091-1	.;.;.	Y	106;106;106;31	ENSP00000350911:S106Y;ENSP00000354337:S106Y;ENSP00000353350:S106Y;ENSP00000394607:S31Y	ENSP00000350911:S106Y	S	+	2	0	CTSE	204485815	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.051000	0.76627	2.655000	0.90218	0.655000	0.94253	TCT		0.582	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		107	251	1	0	6.72522e-28	1	7.80435e-28	107	251				
SEPT5	5413	broad.mit.edu	37	22	19709380	19709380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709380C>T	ENST00000455784.2	+	10	975	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	SEPT5_ENST00000438754.2_Missense_Mutation_p.A289V|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V|SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	284	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGAAGCTGCGCAACATGCT	0.642																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(865-867)gCg>gTg		septin 5							62.0	58.0	60.0					22																	19709380		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709380C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.850C>T	22.37:g.19709380C>T	ENSP00000391311:p.Arg284Cys					SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C|SEPT5_ENST00000455784.2_Missense_Mutation_p.R284C|SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V	p.A289V	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			9	1146	+	Colorectal(54;0.0993)		210					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.866C>T	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627026|4.627026	0.87560|0.87560	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000406395;ENST00000438754|ENST00000455784;ENST00000412544;ENST00000383045	T;T|T;T;T	0.51325|0.60299	0.71;0.71|0.2;0.2;0.2	3.82|3.82	0.147|0.147	0.14838|0.14838	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.81370|0.81370	0.4808|0.4808	H|H	0.96805|0.96805	3.885|3.885	0.23720|0.23720	N|N	0.997024|0.997024	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.74740|0.74740	-0.3563|-0.3563	7|10	0.54805|0.87932	T|D	0.06|0	.|.	12.3196|12.3196	0.54977|0.54977	0.5861:0.4139:0.0:0.0|0.5861:0.4139:0.0:0.0	.|.	.|284	.|Q99719	.|SEPT5_HUMAN	V|C	280;289|284;237;293	ENSP00000384535:A280V;ENSP00000394541:A289V|ENSP00000391311:R284C;ENSP00000408678:R237C;ENSP00000372515:R293C	ENSP00000384535:A280V|ENSP00000372515:R293C	A|R	+|+	2|1	0|0	SEPT5|SEPT5	18089380|18089380	0.999000|0.999000	0.42202|0.42202	0.780000|0.780000	0.31762|0.31762	0.991000|0.991000	0.79684|0.79684	0.891000|0.891000	0.28309|0.28309	0.026000|0.026000	0.15269|0.15269	0.478000|0.478000	0.44815|0.44815	GCG|CGC		0.642	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		79	283	0	0	0	1	0	79	283				
SGK1	6446	broad.mit.edu	37	6	134583014	134583014	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134583014A>C	ENST00000524929.1	-	2	510	c.342T>G	c.(340-342)ttT>ttG	p.F114L	SGK1_ENST00000367858.5_Intron			O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AAATACAAGAAAAACAAAGGC	0.368																																						ENST00000524929.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(340-342)ttT>ttG		serum/glucocorticoid regulated kinase 1																																				SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134583014A>C	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000524929.1:c.342T>G	6.37:g.134583014A>C	ENSP00000435724:p.Phe114Leu					SGK1_ENST00000367858.5_Intron	p.F114L			O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	2	510	-	Colorectal(23;0.221)		0			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000524929.1	37	c.342T>G		.	.	.	.	.	.	.	.	.	.	A	9.863	1.196860	0.22037	.	.	ENSG00000118515	ENST00000524929	.	.	.	5.23	4.08	0.47627	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.22208	-1.0223	7	0.87932	D	0	.	4.4911	0.11813	0.7393:0.0:0.0899:0.1708	.	114	Q7Z3I4	.	L	114	.	ENSP00000435724:F114L	F	-	3	2	SGK1	134624707	0.018000	0.18449	0.024000	0.17045	0.323000	0.28346	0.665000	0.25083	1.011000	0.39340	0.460000	0.39030	TTT		0.368	SGK1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000042305.2			42	130	0	0	0	1	0	42	130				
ADAM7	8756	broad.mit.edu	37	8	24346730	24346730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24346730G>A	ENST00000175238.6	+	12	1233	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	384	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTACTTGAAGGATTATAAGCC	0.353																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(1150-1152)Gat>Aat		ADAM metallopeptidase domain 7							156.0	134.0	141.0					8																	24346730		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24346730G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1150G>A	8.37:g.24346730G>A	ENSP00000175238:p.Asp384Asn					ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.D384N	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	12	1233	+		Prostate(55;0.0181)	384			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.1150G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248736	0.22880	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.62364	0.03;0.03;0.03	5.74	1.98	0.26296	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.215318	0.32343	N	0.006233	T	0.38692	0.1050	N	0.11892	0.195	0.09310	N	1	B;B	0.25048	0.046;0.117	B;B	0.31812	0.027;0.136	T	0.30090	-0.9990	10	0.09338	T	0.73	.	8.2486	0.31704	0.3886:0.0:0.6114:0.0	.	156;384	E5RK87;Q9H2U9	.;ADAM7_HUMAN	N	384;384;156;199	ENSP00000175238:D384N;ENSP00000370166:D384N;ENSP00000430400:D156N	ENSP00000175238:D384N	D	+	1	0	ADAM7	24402620	0.011000	0.17503	0.008000	0.14137	0.007000	0.05969	0.470000	0.22084	0.079000	0.16929	-0.136000	0.14681	GAT		0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		48	279	0	0	0	1	0	48	279				
ERBB2IP	55914	broad.mit.edu	37	5	65350624	65350624	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65350624A>C	ENST00000284037.5	+	21	3867	c.3478A>C	c.(3478-3480)Agt>Cgt	p.S1160R	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1160					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TATGTCAGTTAGTGATTTCAA	0.403																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3478-3480)Agt>Cgt		erbb2 interacting protein							63.0	60.0	61.0					5																	65350624		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65350624A>C		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3478A>C	5.37:g.65350624A>C	ENSP00000284037:p.Ser1160Arg					ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000416865.2_Intron	p.S1160R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3867	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1160					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3478A>C	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.82|16.82	3.227621|3.227621	0.58668|0.58668	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|.	0.54866|.	0.91;0.9;0.91;0.97;0.55;0.88;0.89;0.8;0.55|.	5.57|5.57	3.18|3.18	0.36537|0.36537	.|.	0.229431|.	0.51477|.	D|.	0.000089|.	T|.	0.54743|.	0.1877|.	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D;D;D;D|.	0.69078|.	0.997;0.987;0.977;0.96;0.966;0.997;0.987|.	D;P;P;P;P;D;P|.	0.69479|.	0.964;0.878;0.905;0.762;0.641;0.964;0.88|.	T|.	0.48163|.	-0.9059|.	10|.	0.72032|.	D|.	0.01|.	.|.	8.0592|8.0592	0.30623|0.30623	0.7924:0.1371:0.0705:0.0|0.7924:0.1371:0.0705:0.0	.|.	1160;1160;1160;1156;1160;1160;1160|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	R|S	1160;1160;1160;1160;1160;1160;1156;1160;1160|55	ENSP00000284037:S1160R;ENSP00000370330:S1160R;ENSP00000370326:S1160R;ENSP00000370323:S1160R;ENSP00000370322:S1160R;ENSP00000370325:S1160R;ENSP00000422766:S1156R;ENSP00000426632:S1160R;ENSP00000422015:S1160R|.	ENSP00000284037:S1160R|.	S|X	+|+	1|2	0|0	ERBB2IP|ERBB2IP	65386380|65386380	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	6.857000|6.857000	0.75455|0.75455	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	AGT|TAG		0.403	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		61	227	0	0	0	1	0	61	227				
ARHGEF5	7984	broad.mit.edu	37	7	144068362	144068362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144068362G>A	ENST00000056217.5	+	6	3814	c.3640G>A	c.(3640-3642)Gag>Aag	p.E1214K	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E136K	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1214	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAACCAGGAGCACCAATG	0.517																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3640-3642)Gag>Aag		Rho guanine nucleotide exchange factor (GEF) 5							45.0	45.0	45.0					7																	144068362		2200	4275	6475	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144068362G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.3640G>A	7.37:g.144068362G>A	ENSP00000056217:p.Glu1214Lys					ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E136K	p.E1214K	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			6	3814	+	Melanoma(164;0.14)		1214			DH.		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.3640G>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156157	0.94686	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	T;T	0.66099	-0.19;-0.19	4.79	4.79	0.61399	Dbl homology (DH) domain (5);	0.379579	0.27402	N	0.019536	T	0.71779	0.3380	M	0.85630	2.765	0.48395	D	0.999646	B;P	0.47484	0.101;0.896	B;P	0.46510	0.216;0.519	T	0.78703	-0.2101	10	0.66056	D	0.02	-0.9488	15.6627	0.77199	0.0:0.0:1.0:0.0	.	69;1214	B3KQX6;Q12774	.;ARHG5_HUMAN	K	1214;69;136	ENSP00000056217:E1214K;ENSP00000418227:E136K	ENSP00000056217:E1214K	E	+	1	0	ARHGEF5	143699295	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.340000	0.79292	2.376000	0.81061	0.555000	0.69702	GAG		0.517	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		32	669	0	0	0	1	0	32	669				
PLCB4	5332	broad.mit.edu	37	20	9404500	9404500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9404500C>T	ENST00000378493.1	+	24	2404	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	PLCB4_ENST00000378501.2_Nonsense_Mutation_p.R797*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	797					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCCGGATATCGACACATTTC	0.448																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2389-2391)Cga>Tga		phospholipase C, beta 4							94.0	79.0	84.0					20																	9404500		2203	4300	6503	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9404500C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2389C>T	20.37:g.9404500C>T	ENSP00000367754:p.Arg797*					PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.R797*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*	p.R797*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			24	2404	+			797					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2389C>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	41	9.083261	0.99061	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.72	3.64	0.41730	.	0.057043	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3444	0.60564	0.4142:0.5858:0.0:0.0	.	.	.	.	X	797;809;797;797;797;645	.	ENSP00000278655:R797X	R	+	1	2	PLCB4	9352500	0.998000	0.40836	0.948000	0.38648	0.696000	0.40369	1.218000	0.32467	1.391000	0.46566	0.655000	0.94253	CGA		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			28	145	0	0	0	1	0	28	145				
TUBA3D	113457	broad.mit.edu	37	2	132237807	132237807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237807G>A	ENST00000321253.6	+	4	648	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	181					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCCACAGCCGTGGTGGAGCC	0.547																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(541-543)Gtg>Atg		tubulin, alpha 3d							145.0	160.0	155.0					2																	132237807		2202	4299	6501	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237807G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.541G>A	2.37:g.132237807G>A	ENSP00000326042:p.Val181Met					TUBA3D_ENST00000409047.2_3'UTR	p.V181M	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	648	+			181					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.541G>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	11.15	1.553203	0.27739	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.71222	-0.55	2.24	1.33	0.21861	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.41194	U	0.000924	T	0.78266	0.4256	M	0.84948	2.725	0.40022	D	0.975427	P	0.40578	0.722	P	0.52267	0.694	T	0.77051	-0.2731	10	0.87932	D	0	.	6.8167	0.23835	0.1594:0.0:0.8406:0.0	.	181	Q13748	TBA3C_HUMAN	M	181	ENSP00000326042:V181M	ENSP00000326042:V181M	V	+	1	0	TUBA3D	131954277	1.000000	0.71417	0.994000	0.49952	0.685000	0.39939	6.409000	0.73289	0.267000	0.21916	0.194000	0.17425	GTG		0.547	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		21	1352	0	0	0	1	0	21	1352				
TNKS	8658	broad.mit.edu	37	8	9538260	9538260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9538260G>A	ENST00000310430.6	+	5	1083	c.1057G>A	c.(1057-1059)Gct>Act	p.A353T	TNKS_ENST00000518281.1_Missense_Mutation_p.A116T|TNKS_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	353					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAACTAATGGCTTTACTGAC	0.299																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1057-1059)Gct>Act		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							88.0	95.0	92.0					8																	9538260		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9538260G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1057G>A	8.37:g.9538260G>A	ENSP00000311579:p.Ala353Thr					TNKS_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000518281.1_Missense_Mutation_p.A116T|TNKS_ENST00000518027.1_3'UTR	p.A353T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	5	1083	+			353					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1057G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998546	0.74818	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.21932	2.41;2.41;1.98	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.33485	1.01	0.80722	D	1	D;B	0.56035	0.974;0.008	P;B	0.62014	0.897;0.027	T	0.00832	-1.1548	10	0.26408	T	0.33	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	353;353	E7EWY6;O95271	.;TNKS1_HUMAN	T	353;353;116	ENSP00000428299:A353T;ENSP00000311579:A353T;ENSP00000429890:A116T	ENSP00000311579:A353T	A	+	1	0	TNKS	9575670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.081000	0.76844	2.747000	0.94245	0.585000	0.79938	GCT		0.299	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		60	313	0	0	0	1	0	60	313				
LRRC2	79442	broad.mit.edu	37	3	46580536	46580536	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46580536G>A	ENST00000395905.3	-	4	881	c.489C>T	c.(487-489)atC>atT	p.I163I	LRRC2_ENST00000296144.3_Splice_Site_p.I163I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	163										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTGACATACCGATTTCTGCTG	0.453																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.e4+1		leucine rich repeat containing 2							129.0	114.0	119.0					3																	46580536		2203	4300	6503	SO:0001630	splice_region_variant	79442							g.chr3:46580536G>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.490+1C>T	3.37:g.46580536G>A						LRRC2_ENST00000296144.3_Splice_Site_p.I163_splice	p.I163_splice	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	4	881	-		Ovarian(412;0.0563)	163					B2RDQ7|Q96LT5	Splice_Site	SNP	ENST00000395905.3	37	c.490_splice	CCDS2741.1																																																																																				0.453	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2		Silent	63	310	0	0	0	1	0	63	310				
INTS7	25896	broad.mit.edu	37	1	212151704	212151704	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212151704C>T	ENST00000366994.3	-	11	1484	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000440600.2_Silent_p.L411L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	460					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCAGCACCGGCAGTTGCATGG	0.522																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1378-1380)ctG>ctA		integrator complex subunit 7							111.0	105.0	107.0					1																	212151704		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212151704C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1380G>A	1.37:g.212151704C>T						INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000440600.2_Silent_p.L411L|INTS7_ENST00000469606.1_5'UTR	p.L460L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	11	1484	-			460					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.1380G>A	CCDS1501.1																																																																																				0.522	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		90	521	0	0	0	1	0	90	521				
BRD4	23476	broad.mit.edu	37	19	15365050	15365050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15365050C>T	ENST00000263377.2	-	11	2292	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Missense_Mutation_p.G691S|BRD4_ENST00000360016.5_Missense_Mutation_p.G691S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	691					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTGGAGGAGCCGGCAATCACA	0.572			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2071-2073)Ggc>Agc		bromodomain containing 4							83.0	72.0	75.0					19																	15365050		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15365050C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2071G>A	19.37:g.15365050C>T	ENSP00000263377:p.Gly691Ser					BRD4_ENST00000360016.5_Missense_Mutation_p.G691S|BRD4_ENST00000371835.4_Missense_Mutation_p.G691S	p.G691S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		11	2292	-			691					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.2071G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192950	0.94960	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.40756	1.02;1.02;1.02	5.22	5.22	0.72569	.	0.204699	0.33854	N	0.004493	T	0.54935	0.1889	L	0.52573	1.65	0.48288	D	0.999623	D;D;D	0.67145	0.996;0.995;0.996	P;P;P	0.58210	0.835;0.752;0.835	T	0.52548	-0.8561	10	0.45353	T	0.12	-24.2424	17.9359	0.89012	0.0:1.0:0.0:0.0	.	691;691;691	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	S	691	ENSP00000263377:G691S;ENSP00000360901:G691S;ENSP00000353112:G691S	ENSP00000263377:G691S	G	-	1	0	BRD4	15226050	1.000000	0.71417	0.984000	0.44739	0.942000	0.58702	6.706000	0.74649	2.608000	0.88229	0.462000	0.41574	GGC		0.572	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		49	187	0	0	0	1	0	49	187				
TEX13A	56157	broad.mit.edu	37	X	104464827	104464827	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464827T>C	ENST00000413579.1	-	2	366	c.255A>G	c.(253-255)ctA>ctG	p.L85L	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.L85L|TEX13A_ENST00000372578.3_Silent_p.L85L|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	85							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTGCCTTTGTAGCTGTGCCT	0.627																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(253-255)ctA>ctG		testis expressed 13A							33.0	33.0	33.0					X																	104464827		2203	4293	6496	SO:0001819	synonymous_variant	56157					intracellular	zinc ion binding	g.chrX:104464827T>C	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.255A>G	X.37:g.104464827T>C						TEX13A_ENST00000413579.1_Silent_p.L85L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.L85L	p.L85L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			2	366	-			85					B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37	c.255A>G																																																																																					0.627	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		62	161	0	0	0	1	0	62	161				
SYT12	91683	broad.mit.edu	37	11	66816068	66816068	+	Missense_Mutation	SNP	G	G	A	rs373132081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66816068G>A	ENST00000393946.2	+	11	2268	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SYT12_ENST00000525457.1_Missense_Mutation_p.R369H|SYT12_ENST00000527043.1_Missense_Mutation_p.R369H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	369	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.R369H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTGTCTCTCCGCGTGACGGTG	0.597																																					Ovarian(65;2862 3307)	ENST00000393946.2																			1	Substitution - Missense(1)	p.R369H(1)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(1105-1107)cGc>cAc		synaptotagmin XII		G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	74.0	63.0	67.0		1106,1106	4.6	1.0	11		67	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	SYT12	NM_001177880.1,NM_177963.3	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	369/422,369/422	66816068	1,12989	2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66816068G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1106G>A	11.37:g.66816068G>A	ENSP00000377520:p.Arg369His					SYT12_ENST00000527043.1_Missense_Mutation_p.R369H|SYT12_ENST00000525457.1_Missense_Mutation_p.R369H	p.R369H			Q8IV01	SYT12_HUMAN			11	2268	+			369			C2 2.			Missense_Mutation	SNP	ENST00000393946.2	37	c.1106G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681759	0.88542	0.0	1.16E-4	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.68624	-0.34;-0.34;-0.34	4.59	4.59	0.56863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66056	-0.6018	10	0.14656	T	0.56	.	15.2877	0.73843	0.0:0.0:1.0:0.0	.	369	Q8IV01	SYT12_HUMAN	H	369	ENSP00000377520:R369H;ENSP00000431400:R369H;ENSP00000435316:R369H	ENSP00000377520:R369H	R	+	2	0	SYT12	66572644	1.000000	0.71417	0.953000	0.39169	0.974000	0.67602	9.783000	0.99037	2.270000	0.75569	0.462000	0.41574	CGC		0.597	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		64	291	0	0	0	1	0	64	291				
CIPC	85457	broad.mit.edu	37	14	77576198	77576198	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77576198C>T	ENST00000361786.2	+	3	497	c.180C>T	c.(178-180)tcC>tcT	p.S60S	KIAA1737_ENST00000555437.1_Intron|RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.S60S	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		60					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGATGGAGTCCGAGGACATGC	0.557																																						ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(178-180)tcC>tcT		KIAA1737							116.0	110.0	112.0					14																	77576198		2203	4300	6503	SO:0001819	synonymous_variant	85457							g.chr14:77576198C>T																												ENST00000361786.2:c.180C>T	14.37:g.77576198C>T						KIAA1737_ENST00000555437.1_Intron|RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.S60S	p.S60S	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	3	497	+			60					B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	37	c.180C>T	CCDS9855.1																																																																																				0.557	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			84	348	0	0	0	1	0	84	348				
C3	718	broad.mit.edu	37	19	6686219	6686219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6686219C>T	ENST00000245907.6	-	29	3818	c.3726G>A	c.(3724-3726)caG>caA	p.Q1242Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1242					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGTCTTTTAGCTGCAGTAGGG	0.547																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3724-3726)caG>caA		complement component 3							229.0	211.0	217.0					19																	6686219		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6686219C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3726G>A	19.37:g.6686219C>T							p.Q1242Q	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	29	3818	-			1242					A7E236	Silent	SNP	ENST00000245907.6	37	c.3726G>A	CCDS32883.1																																																																																				0.547	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		223	890	0	0	0	1	0	223	890				
GBA2	57704	broad.mit.edu	37	9	35739666	35739666	+	Missense_Mutation	SNP	C	C	T	rs148982744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35739666C>T	ENST00000378103.3	-	9	2064	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.R514H|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	514					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGGTGGGGCGGAGGTGACA	0.552																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1540-1542)cGc>cAc		glucosidase, beta (bile acid) 2		C	HIS/ARG	0,4406		0,0,2203	74.0	62.0	66.0		1541	0.1	0.3	9	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	GBA2	NM_020944.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	514/928	35739666	1,13005	2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35739666C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1541G>A	9.37:g.35739666C>T	ENSP00000367343:p.Arg514His					GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H|GBA2_ENST00000378103.3_Missense_Mutation_p.R514H	p.R514H			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	2054	-	all_epithelial(49;0.167)		514					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1541G>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380813	0.11466	0.0	1.16E-4	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.5	0.104	0.14531	Six-hairpin glycosidase-like (1);	0.226574	0.44688	N	0.000428	T	0.16981	0.0408	L	0.36672	1.1	0.19300	N	0.999976	B;D;B	0.55385	0.002;0.971;0.001	B;B;B	0.41571	0.001;0.36;0.0	T	0.16012	-1.0417	9	0.41790	T	0.15	-0.8058	1.4704	0.02414	0.1622:0.3204:0.1134:0.404	.	520;514;514	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	H	514;514;520	.	ENSP00000367334:R514H	R	-	2	0	GBA2	35729666	0.635000	0.27199	0.295000	0.24960	0.003000	0.03518	0.345000	0.19979	0.081000	0.16988	-1.242000	0.01536	CGC		0.552	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		23	180	0	0	0	1	0	23	180				
BBS4	585	broad.mit.edu	37	15	72987519	72987519	+	Splice_Site	SNP	G	G	T	rs113994184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72987519G>T	ENST00000268057.4	+	2	67	c.26G>T	c.(25-27)aGa>aTa	p.R9I	BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Splice_Site_p.R17I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	9	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCATTTCAGAGAACTCAATTT	0.353									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.e2-1		Bardet-Biedl syndrome 4							75.0	78.0	77.0					15																	72987519		2198	4296	6494	SO:0001630	splice_region_variant	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:72987519G>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.25-1G>T	15.37:g.72987519G>T						BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Splice_Site_p.R17_splice	p.R9_splice	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			2	67	+			9			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Splice_Site	SNP	ENST00000268057.4	37	c.24_splice	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395838	0.25205	.	.	ENSG00000140463	ENST00000268057;ENST00000395205	T;T	0.71461	-0.55;-0.57	3.33	-0.121	0.13535	.	0.793638	0.11520	N	0.555855	T	0.46852	0.1414	N	0.11427	0.14	0.80722	D	1	P;B	0.35656	0.514;0.001	B;B	0.35688	0.208;0.002	T	0.22941	-1.0202	10	0.44086	T	0.13	-1.6484	5.3806	0.16189	0.5246:0.0:0.4754:0.0	.	17;9	Q96RK4-2;Q96RK4	.;BBS4_HUMAN	I	9;17	ENSP00000268057:R9I;ENSP00000378631:R17I	ENSP00000268057:R9I	R	+	2	0	BBS4	70774572	0.998000	0.40836	0.998000	0.56505	0.860000	0.49131	0.039000	0.13884	-0.015000	0.14150	0.591000	0.81541	AGA		0.353	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028	Missense_Mutation	45	215	1	0	1.02687e-29	1	1.20094e-29	45	215				
ABCA9	10350	broad.mit.edu	37	17	67016648	67016648	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67016648A>G	ENST00000340001.4	-	19	2692	c.2481T>C	c.(2479-2481)tcT>tcC	p.S827S	ABCA9_ENST00000453985.2_Silent_p.S827S|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Silent_p.S827S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	827					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CGTGGAAGGAAGACAAAACTT	0.403																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2479-2481)tcT>tcC		ATP-binding cassette, sub-family A (ABC1), member 9							117.0	105.0	109.0					17																	67016648		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016648A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2481T>C	17.37:g.67016648A>G						ABCA9_ENST00000453985.2_Silent_p.S827S|ABCA9_ENST00000370732.2_Silent_p.S827S	p.S827S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			19	2692	-	Breast(10;1.47e-12)		827					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.2481T>C	CCDS11681.1																																																																																				0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		13	508	0	0	0	1	0	13	508				
ZNF99	7652	broad.mit.edu	37	19	22941527	22941527	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941527T>G	ENST00000596209.1	-	4	1274	c.1184A>C	c.(1183-1185)aAa>aCa	p.K395T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K304T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGTAGGGTTTCTGTCCAGT	0.363																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(910-912)aAa>aCa		zinc finger protein 99							67.0	72.0	70.0					19																	22941527		2034	4221	6255	SO:0001583	missense	7652							g.chr19:22941527T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1184A>C	19.37:g.22941527T>G	ENSP00000472969:p.Lys395Thr					ZNF99_ENST00000596209.1_Missense_Mutation_p.K395T	p.K304T							5	910	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.911A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.39	1.924104	0.34002	.	.	ENSG00000213973	ENST00000397104	T	0.24908	1.83	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40595	0.1123	M	0.76727	2.345	0.32529	N	0.535216	D	0.53462	0.96	P	0.57204	0.815	T	0.53107	-0.8485	9	0.87932	D	0	.	7.4893	0.27452	0.0:0.0:0.0:1.0	.	304	A8MXY4	ZNF99_HUMAN	T	304	ENSP00000380293:K304T	ENSP00000380293:K304T	K	-	2	0	ZNF99	22733367	0.155000	0.22806	0.025000	0.17156	0.165000	0.22458	-0.043000	0.12043	0.566000	0.29273	0.325000	0.21440	AAA		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		71	282	0	0	0	1	0	71	282				
CYP19A1	1588	broad.mit.edu	37	15	51529135	51529135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51529135C>T	ENST00000396402.1	-	3	370	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	73					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TAGTTGCAGGCACTGCCGATC	0.502																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(217-219)Gcc>Acc		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						108.0	102.0	104.0					15																	51529135		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51529135C>T	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.217G>A	15.37:g.51529135C>T	ENSP00000379683:p.Ala73Thr					CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T	p.A73T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	3	370	-			73					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.217G>A	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441462	0.63067	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.98	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.91196	3.185	0.80722	D	1	B;P	0.37038	0.253;0.579	B;P	0.47162	0.101;0.54	D	0.83742	0.0204	10	0.66056	D	0.02	-15.5037	14.5829	0.68305	0.0:0.9301:0.0:0.0699	.	73;73	Q8IYJ7;P11511	.;CP19A_HUMAN	T	73	ENSP00000379683:A73T;ENSP00000260433:A73T;ENSP00000379685:A73T;ENSP00000390614:A73T;ENSP00000383930:A73T;ENSP00000391139:A73T;ENSP00000384389:A73T	ENSP00000260433:A73T	A	-	1	0	CYP19A1	49316427	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	5.600000	0.67599	1.542000	0.49330	0.655000	0.94253	GCC		0.502	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			120	461	0	0	0	1	0	120	461				
GALNT18	374378	broad.mit.edu	37	11	11362395	11362395	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11362395C>T	ENST00000227756.4	-	7	1660	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	417					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GCCATGTAGACGTGGCTTTTA	0.532																																						ENST00000227756.4																			0											c.(1249-1251)Gtc>Atc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							234.0	237.0	236.0					11																	11362395		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11362395C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1249G>A	11.37:g.11362395C>T	ENSP00000227756:p.Val417Ile						p.V417I	NM_198516.2	NP_940918.2					7	1660	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1249G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345939	0.95807	.	.	ENSG00000110328	ENST00000227756	T	0.40476	1.03	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	T	0.58921	0.2156	L	0.56396	1.775	0.58432	D	0.999999	D	0.69078	0.997	D	0.68621	0.959	T	0.48445	-0.9035	10	0.14252	T	0.57	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	417	Q6P9A2	GLTL4_HUMAN	I	417	ENSP00000227756:V417I	ENSP00000227756:V417I	V	-	1	0	GALNTL4	11318971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.716000	0.92895	0.561000	0.74099	GTC		0.532	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		250	1092	0	0	0	1	0	250	1092				
EVPL	2125	broad.mit.edu	37	17	74005791	74005791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74005791C>A	ENST00000301607.3	-	22	3748	c.3495G>T	c.(3493-3495)aaG>aaT	p.K1165N	EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1165	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGTCGCGTTCTTGGTCCTCT	0.632																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3493-3495)aaG>aaT		envoplakin							46.0	42.0	43.0					17																	74005791		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005791C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3495G>T	17.37:g.74005791C>A	ENSP00000301607:p.Lys1165Asn					EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	p.K1165N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3748	-			1165			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3495G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	3.416	-0.119149	0.06838	.	.	ENSG00000167880	ENST00000301607	T	0.48836	0.8	5.14	3.11	0.35812	.	0.763817	0.12829	N	0.435764	T	0.37972	0.1023	L	0.43152	1.355	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.12156	0.005;0.007	T	0.31336	-0.9947	10	0.51188	T	0.08	-14.3804	6.5517	0.22438	0.0:0.653:0.131:0.216	.	1187;1165	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1165	ENSP00000301607:K1165N	ENSP00000301607:K1165N	K	-	3	2	EVPL	71517386	0.497000	0.26067	0.002000	0.10522	0.011000	0.07611	0.718000	0.25866	0.559000	0.29153	0.485000	0.47835	AAG		0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		60	247	1	0	6.3091e-27	1	7.28755e-27	60	247				
ZNF841	284371	broad.mit.edu	37	19	52568529	52568529	+	Missense_Mutation	SNP	C	C	T	rs535615577		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52568529C>T	ENST00000426391.2	-	5	2809	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	ZNF841_ENST00000389534.4_Missense_Mutation_p.R869Q|ZNF841_ENST00000594295.1_Missense_Mutation_p.R869Q|ZNF432_ENST00000598446.1_Intron|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Missense_Mutation_p.R445Q			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	753					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGAATGAATTCGTTGGTGTTT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20160	0.001		0.0	False		,,,				2504	0.0					ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(2605-2607)cGa>cAa		zinc finger protein 841							185.0	157.0	165.0					19																	52568529		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568529C>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2258G>A	19.37:g.52568529C>T	ENSP00000415453:p.Arg753Gln					ZNF841_ENST00000359973.2_Missense_Mutation_p.R445Q|ZNF841_ENST00000594295.1_Missense_Mutation_p.R869Q|ZNF841_ENST00000426391.2_Missense_Mutation_p.R753Q|ZNF432_ENST00000598446.1_Intron	p.R869Q	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	3065	-			753					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.2606G>A		.	.	.	.	.	.	.	.	.	.	C	10.92	1.485949	0.26686	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.24723	1.84;1.84;1.84	1.66	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34279	0.0892	L	0.61036	1.89	0.09310	N	1	P;D;P	0.69078	0.705;0.997;0.616	B;P;B	0.56127	0.068;0.792;0.058	T	0.19192	-1.0313	9	0.72032	D	0.01	.	5.1842	0.15176	0.0:0.4601:0.3968:0.1431	.	869;445;753	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	Q	869;753;445	ENSP00000374185:R869Q;ENSP00000415453:R753Q;ENSP00000353060:R445Q	ENSP00000353060:R445Q	R	-	2	0	ZNF841	57260341	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.150000	0.01290	-0.436000	0.07254	-0.502000	0.04539	CGA		0.423	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		29	108	0	0	0	1	0	29	108				
UHRF1BP1	54887	broad.mit.edu	37	6	34824616	34824616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34824616G>T	ENST00000192788.5	+	11	1512	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q447H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	447							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCCCTCTCAGGGCAGACAGC	0.488																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1339-1341)caG>caT		UHRF1 binding protein 1							89.0	86.0	87.0					6																	34824616		1891	4110	6001	SO:0001583	missense	54887							g.chr6:34824616G>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1341G>T	6.37:g.34824616G>T	ENSP00000192788:p.Gln447His					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q447H	p.Q447H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			11	1512	+			447					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1341G>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	2.981	-0.210263	0.06140	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08807	3.05;3.05	5.93	3.06	0.35304	.	0.411838	0.25205	N	0.032357	T	0.00637	0.0021	N	0.00841	-1.15	0.28030	N	0.934187	B	0.10296	0.003	B	0.08055	0.003	T	0.48636	-0.9018	10	0.15952	T	0.53	-6.1459	5.2525	0.15529	0.0746:0.2348:0.5256:0.165	.	447	Q6BDS2	URFB1_HUMAN	H	447	ENSP00000192788:Q447H;ENSP00000400628:Q447H	ENSP00000192788:Q447H	Q	+	3	2	UHRF1BP1	34932594	0.432000	0.25554	0.998000	0.56505	0.426000	0.31534	0.775000	0.26689	1.526000	0.49068	-0.150000	0.13652	CAG		0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		17	436	1	0	6.94344e-10	1	7.33246e-10	17	436				
SPACA1	81833	broad.mit.edu	37	6	88763711	88763711	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88763711G>A	ENST00000237201.1	+	2	373	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	86					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AATGTGCACCGTTACATGTGG	0.348																																						ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(256-258)Gtt>Att		sperm acrosome associated 1							94.0	89.0	90.0					6																	88763711		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88763711G>A	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.256G>A	6.37:g.88763711G>A	ENSP00000237201:p.Val86Ile						p.V86I	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	2	373	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	86						Missense_Mutation	SNP	ENST00000237201.1	37	c.256G>A	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215641	0.58452	.	.	ENSG00000118434	ENST00000237201	T	0.32023	1.47	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000040	T	0.36054	0.0953	M	0.67953	2.075	0.33814	D	0.628257	D	0.65815	0.995	P	0.50570	0.644	T	0.35475	-0.9787	10	0.87932	D	0	-14.1554	18.6239	0.91331	0.0:0.0:1.0:0.0	.	86	Q9HBV2	SACA1_HUMAN	I	86	ENSP00000237201:V86I	ENSP00000237201:V86I	V	+	1	0	SPACA1	88820430	1.000000	0.71417	0.934000	0.37439	0.391000	0.30476	6.055000	0.71103	2.838000	0.97847	0.655000	0.94253	GTT		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			32	147	0	0	0	1	0	32	147				
PPP1R15A	23645	broad.mit.edu	37	19	49379046	49379046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49379046G>A	ENST00000200453.5	+	3	2110	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	614					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCCCGGGCCAGAGCCTGGGCA	0.692																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1840-1842)aGa>aAa		protein phosphatase 1, regulatory subunit 15A							117.0	134.0	128.0					19																	49379046		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49379046G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1841G>A	19.37:g.49379046G>A	ENSP00000200453:p.Arg614Lys						p.R614K	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	2110	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	614					B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1841G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485260	0.63962	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15834	2.39	4.96	2.66	0.31614	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.153148	0.39909	N	0.001222	T	0.15132	0.0365	L	0.35414	1.06	0.33439	D	0.582152	P	0.47484	0.896	P	0.47470	0.548	T	0.15492	-1.0435	10	0.66056	D	0.02	-17.293	6.0042	0.19537	0.1016:0.1936:0.7048:0.0	.	614	O75807	PR15A_HUMAN	K	614;454;572	ENSP00000200453:R614K	ENSP00000200453:R614K	R	+	2	0	PPP1R15A	54070858	0.728000	0.28080	1.000000	0.80357	0.997000	0.91878	1.044000	0.30329	1.404000	0.46819	0.655000	0.94253	AGA		0.692	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		156	1746	0	0	0	1	0	156	1746				
VMO1	284013	broad.mit.edu	37	17	4689283	4689283	+	Missense_Mutation	SNP	G	G	A	rs367858537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4689283G>A	ENST00000328739.5	-	2	339	c.260C>T	c.(259-261)gCg>gTg	p.A87V	GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000416307.2_Missense_Mutation_p.A87V	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	87						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GTTCCCGCGCGCGCAGTGCAG	0.632																																						ENST00000328739.5																			0				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						c.(259-261)gCg>gTg		vitelline membrane outer layer 1 homolog (chicken)		G	VAL/ALA,VAL/ALA,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	691.0	626.0	648.0		260,260,,260	3.6	0.0	17		648	0,8600		0,0,4300	no	missense,missense,intron,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	64,64,,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,,benign	87/115,87/103,,87/203	4689283	1,13005	2203	4300	6503	SO:0001583	missense	284013				vitelline membrane formation	extracellular region		g.chr17:4689283G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.260C>T	17.37:g.4689283G>A	ENSP00000328397:p.Ala87Val					VMO1_ENST00000354194.4_Intron|VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|VMO1_ENST00000416307.2_Missense_Mutation_p.A87V	p.A87V	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN			2	339	-			87					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	c.260C>T	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	9.086	1.000625	0.19121	2.27E-4	0.0	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.44482	0.92;0.92;0.92	4.58	3.61	0.41365	.	0.887861	0.09976	N	0.731644	T	0.28896	0.0717	L	0.29908	0.895	0.42351	D	0.992372	P;B;B	0.35807	0.522;0.019;0.142	B;B;B	0.30572	0.117;0.008;0.015	T	0.04029	-1.0983	10	0.34782	T	0.22	-5.9681	8.7249	0.34463	0.1042:0.0:0.8958:0.0	.	87;87;87	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	V	87	ENSP00000328397:A87V;ENSP00000390450:A87V;ENSP00000408166:A87V	ENSP00000328397:A87V	A	-	2	0	VMO1	4636023	0.001000	0.12720	0.010000	0.14722	0.009000	0.06853	0.885000	0.28227	1.161000	0.42604	-0.219000	0.12488	GCG		0.632	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		28	198	0	0	0	1	0	28	198				
CLDN17	26285	broad.mit.edu	37	21	31538308	31538308	+	Nonsense_Mutation	SNP	G	G	A	rs377679902		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31538308G>A	ENST00000286808.3	-	1	663	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	210					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTATTTCTTCGCTTATCTGTG	0.453																																						ENST00000286808.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(628-630)Cga>Tga		claudin 17		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	247.0	234.0	239.0		628	4.6	0.0	21		239	0,8600		0,0,4300	no	stop-gained	CLDN17	NM_012131.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		210/225	31538308	1,13005	2203	4300	6503	SO:0001587	stop_gained	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538308G>A	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.628C>T	21.37:g.31538308G>A	ENSP00000286808:p.Arg210*						p.R210*	NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN			1	663	-			210					Q3MJB5|Q6UY37	Nonsense_Mutation	SNP	ENST00000286808.3	37	c.628C>T	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271533	0.59649	2.27E-4	0.0	ENSG00000156282	ENST00000286808	.	.	.	4.63	4.63	0.57726	.	1.504630	0.03641	N	0.239477	.	.	.	.	.	.	0.37719	D	0.924843	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	18.4009	0.90515	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000286808:R210X	R	-	1	2	CLDN17	30460179	0.543000	0.26434	0.020000	0.16555	0.034000	0.12701	4.862000	0.62976	2.865000	0.98341	0.655000	0.94253	CGA		0.453	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		37	305	0	0	0	1	0	37	305				
WDR77	79084	broad.mit.edu	37	1	111984012	111984012	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111984012C>T	ENST00000235090.5	-	10	1076		c.e10-1		WDR77_ENST00000497278.1_Splice_Site|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Splice_Site	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTTCTAAACCTAGAAGAAAG	0.498																																						ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e10-1		WD repeat domain 77							52.0	54.0	53.0					1																	111984012		2203	4300	6503	SO:0001630	splice_region_variant	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111984012C>T	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.870-1G>A	1.37:g.111984012C>T						WDR77_ENST00000411751.2_Splice_Site|WDR77_ENST00000497278.1_Splice_Site		NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1076	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)						B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Splice_Site	SNP	ENST00000235090.5	37		CCDS835.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022708	0.75275	.	.	ENSG00000116455	ENST00000235090;ENST00000411751;ENST00000449340	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR77	111785535	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.441000	0.73439	2.808000	0.96608	0.655000	0.94253	.		0.498	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102	Intron	57	217	0	0	0	1	0	57	217				
NEIL3	55247	broad.mit.edu	37	4	178260982	178260982	+	Missense_Mutation	SNP	A	A	G	rs147943632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178260982A>G	ENST00000264596.3	+	5	791	c.673A>G	c.(673-675)Ata>Gta	p.I225V		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	225					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATGAAAATGATACGTGATTT	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(673-675)Ata>Gta	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	93.0	88.0	90.0		673	3.0	0.8	4	dbSNP_134	90	0,8600		0,0,4300	no	missense	NEIL3	NM_018248.2	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	225/606	178260982	1,13005	2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178260982A>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.673A>G	4.37:g.178260982A>G	ENSP00000264596:p.Ile225Val						p.I225V	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	5	791	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	225					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.673A>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273946	0.23221	2.27E-4	0.0	ENSG00000109674	ENST00000264596	T	0.21191	2.02	5.49	3.01	0.34805	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.561376	0.19738	N	0.107190	T	0.15132	0.0365	L	0.42632	1.34	0.28203	N	0.92729	B	0.11235	0.004	B	0.14023	0.01	T	0.35251	-0.9796	10	0.07325	T	0.83	-0.6797	9.803	0.40775	0.8597:0.0:0.1403:0.0	.	225	Q8TAT5	NEIL3_HUMAN	V	225	ENSP00000264596:I225V	ENSP00000264596:I225V	I	+	1	0	NEIL3	178497976	0.993000	0.37304	0.790000	0.31976	0.987000	0.75469	2.884000	0.48562	0.359000	0.24239	0.455000	0.32223	ATA		0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		48	163	0	0	0	1	0	48	163				
EMR1	2015	broad.mit.edu	37	19	6897456	6897456	+	Missense_Mutation	SNP	A	A	G	rs151147887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6897456A>G	ENST00000312053.4	+	5	449	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.T138A|EMR1_ENST00000250572.8_Missense_Mutation_p.T138A|EMR1_ENST00000381404.4_Missense_Mutation_p.T86A|EMR1_ENST00000601198.1_3'UTR|AC020895.1_ENST00000580648.1_RNA	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	138	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGAGTGCCTCACCAGCAGCGT	0.478																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(412-414)Acc>Gcc		egf-like module containing, mucin-like, hormone receptor-like 1							95.0	78.0	84.0					19																	6897456		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6897456A>G	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.412A>G	19.37:g.6897456A>G	ENSP00000311545:p.Thr138Ala					EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381404.4_Missense_Mutation_p.T86A|EMR1_ENST00000450315.3_Missense_Mutation_p.T138A|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.T138A	p.T138A	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			5	449	+	all_hematologic(4;0.166)		138			EGF-like 3; calcium-binding (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.412A>G	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	A	0.536	-0.855650	0.02630	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000450315	D;D;D;T	0.92149	-2.2;-2.98;-2.2;0.31	4.12	-8.24	0.01029	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.79387	0.4437	N	0.25201	0.72	0.09310	N	1	B;B;B;B	0.32365	0.007;0.114;0.027;0.367	B;B;B;B	0.36989	0.004;0.053;0.046;0.238	T	0.71251	-0.4648	9	0.09084	T	0.74	.	1.0346	0.01545	0.2211:0.3221:0.2535:0.2034	.	138;138;86;138	E7EPX9;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	A	138;138;86;138;138	ENSP00000311545:T138A;ENSP00000370811:T86A;ENSP00000250572:T138A;ENSP00000405974:T138A	ENSP00000250572:T138A	T	+	1	0	EMR1	6848456	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.222000	0.00140	-2.801000	0.00352	-0.460000	0.05396	ACC		0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			6	270	0	0	0	1	0	6	270				
AXL	558	broad.mit.edu	37	19	41765518	41765518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41765518G>A	ENST00000301178.4	+	20	2584	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	HNRNPUL1_ENST00000352456.3_5'Flank|HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000593513.1_Silent_p.E530E|AXL_ENST00000359092.3_Silent_p.E789E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTTTTACAGAGCTGCGGGAAG	0.552																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(2392-2394)gaG>gaA		AXL receptor tyrosine kinase							68.0	72.0	71.0					19																	41765518		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41765518G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2394G>A	19.37:g.41765518G>A						AXL_ENST00000593513.1_Silent_p.E530E|AXL_ENST00000359092.3_Silent_p.E789E	p.E798E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			20	2584	+			798			Protein kinase.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.2394G>A	CCDS12575.1																																																																																				0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			51	237	0	0	0	1	0	51	237				
CACNA1S	779	broad.mit.edu	37	1	201010662	201010662	+	Nonsense_Mutation	SNP	G	G	A	rs550371466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201010662G>A	ENST00000362061.3	-	41	5330	c.5104C>T	c.(5104-5106)Cga>Tga	p.R1702*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1702					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAAGGGCTCGTCCTCTGGTA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.001					ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(5104-5106)Cga>Tga		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						81.0	68.0	72.0					1																	201010662		2203	4300	6503	SO:0001587	stop_gained	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201010662G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5104C>T	1.37:g.201010662G>A	ENSP00000355192:p.Arg1702*					RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*	p.R1702*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			41	5330	-			1702					A4IF51|B1ALM2|Q12896|Q13934	Nonsense_Mutation	SNP	ENST00000362061.3	37	c.5104C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	46	12.097687	0.99636	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	.	.	.	4.51	3.6	0.41247	.	3.051100	0.01927	U	0.040939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	10.8773	0.46919	0.0:0.8087:0.1913:0.0	.	.	.	.	X	1702;1683	.	ENSP00000355192:R1702X	R	-	1	2	CACNA1S	199277285	1.000000	0.71417	0.997000	0.53966	0.028000	0.11728	0.826000	0.27407	1.278000	0.44430	-0.375000	0.07067	CGA		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		21	140	0	0	0	1	0	21	140				
ELAVL2	1993	broad.mit.edu	37	9	23765066	23765066	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23765066G>A	ENST00000397312.2	-	2	260				ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000462649.1_5'UTR|ELAVL2_ENST00000380110.4_Silent_p.L5L|ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000544538.1_Intron	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACATCACACAGTCTGACTGCC	0.433																																						ENST00000380110.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(13-15)Ctg>Ttg		ELAV like neuron-specific RNA binding protein 2							188.0	171.0	176.0					9																	23765066		876	1991	2867	SO:0001627	intron_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23765066G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.15-2819C>T	9.37:g.23765066G>A						ELAVL2_ENST00000397312.2_Intron|ELAVL2_ENST00000462649.1_5'UTR|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000380117.1_Intron	p.L5L			Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	2	80	-			0					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	c.13C>T	CCDS6515.1																																																																																				0.433	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		102	382	0	0	0	1	0	102	382				
SRD5A2	6716	broad.mit.edu	37	2	31805971	31805971	+	RNA	SNP	G	G	A	rs61748132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31805971G>A	ENST00000405650.1	-	0	165							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AACCTGCATCGCGCCGTGTTC	0.701																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)						17.0	20.0	19.0					2																	31805971		1998	4145	6143			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31805971G>A	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31805971G>A										P31213	S5A2_HUMAN			0	165	-	Acute lymphoblastic leukemia(172;0.155)							B2RE87|Q2M1R4|Q9BYE6	RNA	SNP	ENST00000405650.1	37																																																																																						0.701	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	NM_000348		51	150	0	0	0	1	0	51	150				
EDN1	1906	broad.mit.edu	37	6	12292728	12292728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12292728G>A	ENST00000379375.5	+	2	486	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	73		Cleavage; by KEL.			artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ACATCATTTGGGTCAACACTC	0.542																																						ENST00000379375.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(217-219)tgG>tgA		endothelin 1							81.0	75.0	77.0					6																	12292728		2203	4300	6503	SO:0001587	stop_gained	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12292728G>A	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.219G>A	6.37:g.12292728G>A	ENSP00000368683:p.Trp73*						p.W73*	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			2	486	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	73				Cleavage; by KEL.	Q96DA1	Nonsense_Mutation	SNP	ENST00000379375.5	37	c.219G>A	CCDS4522.1	.	.	.	.	.	.	.	.	.	.	G	40	8.185874	0.98696	.	.	ENSG00000078401	ENST00000379375	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3417	20.0417	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000368683:W73X	W	+	3	0	EDN1	12400714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.484000	0.97940	2.736000	0.93811	0.655000	0.94253	TGG		0.542	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		70	356	0	0	0	1	0	70	356				
SLC5A1	6523	broad.mit.edu	37	22	32495260	32495260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32495260G>A	ENST00000266088.4	+	12	1621	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SLC5A1_ENST00000543737.1_Silent_p.Q330Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	457					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ATTACATCCAGTCCATCACCA	0.493																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1369-1371)caG>caA		solute carrier family 5 (sodium/glucose cotransporter), member 1							256.0	236.0	243.0					22																	32495260		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495260G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1371G>A	22.37:g.32495260G>A						SLC5A1_ENST00000543737.1_Silent_p.Q330Q	p.Q457Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			12	1621	+			457					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1371G>A	CCDS13902.1																																																																																				0.493	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		237	984	0	0	0	1	0	237	984				
TTN	7273	broad.mit.edu	37	2	179422791	179422791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179422791G>A	ENST00000591111.1	-	278	82591	c.82367C>T	c.(82366-82368)gCt>gTt	p.A27456V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29097V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27456					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)			CAGGTTCTCAGCAGTAATTTC	0.433																																						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.(87289-87291)gCt>gTt		titin							112.0	108.0	110.0					2																	179422791		1892	4116	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422791G>A	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.82367C>T	2.37:g.179422791G>A	ENSP00000465570:p.Ala27456Val					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A27456V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.A29097V	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)		328	87514	-			27456			Fibronectin type-III 112.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.87290C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.329266	0.81690	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42921	0.1224	N	0.25332	0.735	0.53005	D	0.999964	P;P;P;D	0.53619	0.925;0.925;0.925;0.961	P;P;P;P	0.48270	0.572;0.572;0.572;0.572	T	0.40608	-0.9554	9	0.87932	D	0	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	20032;20157;20224;27456	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	26529;20032;20224;20157;20029	ENSP00000343764:A26529V;ENSP00000434586:A20032V;ENSP00000340554:A20224V;ENSP00000352154:A20157V	ENSP00000340554:A20224V	A	-	2	0	TTN	179131037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	GCT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		156	464	0	0	0	1	0	156	464				
GAB3	139716	broad.mit.edu	37	X	153927748	153927748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153927748C>T	ENST00000369575.3	-	6	1194	c.1163G>A	c.(1162-1164)aGt>aAt	p.S388N	GAB3_ENST00000424127.2_Missense_Mutation_p.S389N|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	388					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCTTCGATACTGGCTGAAGC	0.532																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1162-1164)aGt>aAt		GRB2-associated binding protein 3							69.0	63.0	65.0					X																	153927748		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153927748C>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1163G>A	X.37:g.153927748C>T	ENSP00000358588:p.Ser388Asn					GAB3_ENST00000424127.2_Missense_Mutation_p.S389N|GAB3_ENST00000496390.1_5'UTR	p.S388N	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			6	1194	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		388					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.1163G>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518775	0.13005	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.26957	1.7;1.7;1.7	5.85	4.09	0.47781	.	0.454231	0.28284	N	0.015909	T	0.18964	0.0455	L	0.47716	1.5	0.09310	N	1	P;B;P	0.42871	0.792;0.056;0.682	B;B;B	0.40329	0.326;0.047;0.326	T	0.13202	-1.0518	10	0.02654	T	1	-1.7537	9.8274	0.40921	0.0:0.8291:0.0:0.1709	.	389;389;388	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	N	388;389;389	ENSP00000358588:S388N;ENSP00000358581:S389N;ENSP00000399588:S389N	ENSP00000358581:S389N	S	-	2	0	GAB3	153580942	0.057000	0.20700	0.003000	0.11579	0.152000	0.21847	1.057000	0.30492	0.623000	0.30267	0.529000	0.55759	AGT		0.532	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		74	305	0	0	0	1	0	74	305				
CACNA1A	773	broad.mit.edu	37	19	13410018	13410018	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13410018T>C	ENST00000360228.5	-	19	2428	c.2429A>G	c.(2428-2430)cAc>cGc	p.H810R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	811					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCCGCAGGTGCCGCGTGTA	0.647																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2428-2430)cAc>cGc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						44.0	52.0	49.0					19																	13410018		2028	4151	6179	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13410018T>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2429A>G	19.37:g.13410018T>C	ENSP00000353362:p.His810Arg					CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	p.H810R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2428	-			811					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2429A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	3.288	-0.145636	0.06627	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	3.86	1.48	0.22813	.	3.771970	0.00960	N	0.003099	D	0.90621	0.7059	N	0.25485	0.75	0.22354	N	0.99917	B;P;P	0.38335	0.012;0.467;0.627	B;B;B	0.32022	0.007;0.132;0.139	T	0.82343	-0.0504	10	0.22706	T	0.39	.	9.1483	0.36946	0.0:0.0:0.4829:0.5171	.	811;814;810	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	R	810;814;811;811	ENSP00000353362:H810R	ENSP00000317661:H811R	H	-	2	0	CACNA1A	13271018	0.042000	0.20092	0.850000	0.33497	0.067000	0.16453	0.422000	0.21296	0.052000	0.16007	0.374000	0.22700	CAC		0.647	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		58	312	0	0	0	1	0	58	312				
DDX39B	7919	broad.mit.edu	37	6	31498650	31498650	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31498650G>A	ENST00000396172.1	-	10	1806	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Silent_p.S392S|DDX39B_ENST00000417556.2_Silent_p.S407S|DDX39B_ENST00000376177.2_Missense_Mutation_p.P400L|DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000415382.2_Silent_p.S314S	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	392	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CATTCTCATCGGACACAAATG	0.512																																						ENST00000376177.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1198-1200)cCg>cTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							79.0	79.0	79.0					6																	31498650		1511	2709	4220	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31498650G>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1176C>T	6.37:g.31498650G>A						DDX39B_ENST00000396172.1_Silent_p.S392S|DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000417556.2_Silent_p.S407S|DDX39B_ENST00000458640.1_Silent_p.S392S|DDX39B_ENST00000415382.2_Silent_p.S314S|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	p.P400L			Q13838	DX39B_HUMAN			9	1202	-			0			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.1199C>T	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290459	0.23478	.	.	ENSG00000198563	ENST00000376177;ENST00000417023	T	0.35236	1.32	4.53	-2.15	0.07102	.	.	.	.	.	T	0.09992	0.0245	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.21895	-1.0232	8	0.87932	D	0	-4.6826	1.7197	0.02909	0.1451:0.353:0.1557:0.3463	.	400	Q5STU3	.	L	400;156	ENSP00000365347:P400L	ENSP00000365347:P400L	P	-	2	0	DDX39B	31606629	0.001000	0.12720	0.988000	0.46212	0.873000	0.50193	-1.972000	0.01502	-0.576000	0.05974	-1.461000	0.01025	CCG		0.512	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		57	256	0	0	0	1	0	57	256				
ZBED8	63920	broad.mit.edu	37	5	159821708	159821708	+	Missense_Mutation	SNP	G	G	A	rs191961092		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159821708G>A	ENST00000408953.3	-	2	1297	c.790C>T	c.(790-792)Cct>Tct	p.P264S	C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						acgatatgaggtatctctttt	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		21031	0.001		0.0	False		,,,				2504	0.0					ENST00000408953.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(790-792)Cct>Tct		chromosome 5 open reading frame 54							142.0	136.0	138.0					5																	159821708		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159821708G>A																												ENST00000408953.3:c.790C>T	5.37:g.159821708G>A	ENSP00000386184:p.Pro264Ser					C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	p.P264S	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN			2	1297	-			264						Missense_Mutation	SNP	ENST00000408953.3	37	c.790C>T	CCDS34283.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.56	2.274400	0.40194	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.19394	2.15;2.15	2.84	2.84	0.33178	.	.	.	.	.	T	0.35278	0.0926	L	0.47190	1.495	0.31834	N	0.62442	D	0.89917	1.0	D	0.91635	0.999	T	0.25502	-1.0130	9	0.44086	T	0.13	.	9.3899	0.38367	0.0:0.0:1.0:0.0	.	264	Q8IZ13	CE054_HUMAN	S	264	ENSP00000386184:P264S;ENSP00000428831:P264S	ENSP00000386184:P264S	P	-	1	0	C5orf54	159754286	0.987000	0.35691	0.974000	0.42286	0.746000	0.42486	3.072000	0.50049	1.916000	0.55485	0.655000	0.94253	CCT		0.408	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			126	533	0	0	0	1	0	126	533				
DNAI1	27019	broad.mit.edu	37	9	34500719	34500719	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34500719G>T	ENST00000242317.4	+	11	1072		c.e11-1			NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1						cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGTGTTTAAGATTTTAAGTA	0.522									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.e11-1		dynein, axonemal, intermediate chain 1							58.0	54.0	55.0					9																	34500719		2203	4300	6503	SO:0001630	splice_region_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34500719G>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.902-1G>T	9.37:g.34500719G>T			OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848			NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	11	1072	+	all_epithelial(49;0.244)							B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Splice_Site	SNP	ENST00000242317.4	37		CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201942	0.79127	.	.	ENSG00000122735	ENST00000242317	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4324	0.83853	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAI1	34490719	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	8.857000	0.92250	2.539000	0.85634	0.563000	0.77884	.		0.522	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		Intron	14	100	1	0	0.000219431	1	0.000222766	14	100				
SLC25A30	253512	broad.mit.edu	37	13	45976427	45976427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976427T>C	ENST00000539591.1	-	5	482	c.319A>G	c.(319-321)Aca>Gca	p.T107A				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	158					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)		AGTCCTCTTGTCCCCTCTTGC	0.368																																						ENST00000539591.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(319-321)Aca>Gca		solute carrier family 25, member 30							278.0	266.0	270.0					13																	45976427		2203	4300	6503	SO:0001583	missense	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45976427T>C	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.319A>G	13.37:g.45976427T>C	ENSP00000443542:p.Thr107Ala						p.T107A			Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	5	482	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	158					B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	37	c.319A>G		.	.	.	.	.	.	.	.	.	.	T	12.21	1.870535	0.33069	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.59	1.81	0.25067	Mitochondrial carrier domain (2);	0.146358	0.64402	N	0.000010	T	0.67021	0.2849	N	0.16098	0.37	0.43885	D	0.996502	P;P	0.46784	0.884;0.884	P;P	0.50537	0.643;0.643	T	0.62029	-0.6940	10	0.38643	T	0.18	-5.3928	9.0201	0.36195	0.0:0.2111:0.0:0.7889	.	158;158	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	A	158;83;107;107;83	ENSP00000429168:T158A;ENSP00000443542:T107A;ENSP00000429308:T107A;ENSP00000430687:T83A	ENSP00000429308:T107A	T	-	1	0	SLC25A30	44874427	0.996000	0.38824	0.084000	0.20598	0.983000	0.72400	2.564000	0.45931	0.145000	0.18977	0.533000	0.62120	ACA		0.368	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736		47	477	0	0	0	1	0	47	477				
GPR32	2854	broad.mit.edu	37	19	51274701	51274701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51274701C>T	ENST00000270590.4	+	1	981	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	282					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCATCTGTGGCGACGGGTGAT	0.582																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(844-846)Cga>Tga		G protein-coupled receptor 32							91.0	90.0	90.0					19																	51274701		2203	4300	6503	SO:0001587	stop_gained	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274701C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.844C>T	19.37:g.51274701C>T	ENSP00000270590:p.Arg282*						p.R282*	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	981	+		all_neural(266;0.131)	282					Q502U7|Q6NWS5	Nonsense_Mutation	SNP	ENST00000270590.4	37	c.844C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656333	0.47467	.	.	ENSG00000142511	ENST00000270590	.	.	.	1.99	-1.38	0.09027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.3727	0.16148	0.2073:0.3822:0.4105:0.0	.	.	.	.	X	282	.	ENSP00000270590:R282X	R	+	1	2	GPR32	55966513	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-0.521000	0.06245	-0.399000	0.07668	0.313000	0.20887	CGA		0.582	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			17	510	0	0	0	1	0	17	510				
DRD1	1812	broad.mit.edu	37	5	174869930	174869930	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869930A>G	ENST00000393752.2	-	2	1165	c.173T>C	c.(172-174)gTg>gCg	p.V58A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	58					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAAGTTGGTCACCTTGGACCG	0.587																																						ENST00000393752.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(172-174)gTg>gCg		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						98.0	80.0	86.0					5																	174869930		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869930A>G	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.173T>C	5.37:g.174869930A>G	ENSP00000377353:p.Val58Ala						p.V58A	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1165	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	58					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.173T>C	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673422	0.67928	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.37584	1.19	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.79343	2.45	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.66015	-0.6028	10	0.87932	D	0	.	15.3831	0.74676	1.0:0.0:0.0:0.0	.	58	P21728	DRD1_HUMAN	A	58	ENSP00000377353:V58A	ENSP00000327652:V58A	V	-	2	0	DRD1	174802536	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	9.157000	0.94714	2.285000	0.76669	0.533000	0.62120	GTG		0.587	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		88	220	0	0	0	1	0	88	220				
FAM86DP	692099	broad.mit.edu	37	3	75475623	75475623	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75475623G>A	ENST00000459803.1	-	0	906					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TGAACAGCTGGCACGTCTCTG	0.647																																						ENST00000459803.1																			0																																																			0							g.chr3:75475623G>A	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.75475623G>A								NR_024241.1						0	906	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.647	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		38	532	0	0	0	1	0	38	532				
C16orf90	646174	broad.mit.edu	37	16	3544819	3544819	+	Silent	SNP	G	G	A	rs368416924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3544819G>A	ENST00000437192.3	-	2	107	c.105C>T	c.(103-105)taC>taT	p.Y35Y	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	25										large_intestine(1)	1						GGCCCCCCTCGTAGATGTTGG	0.716																																						ENST00000437192.3																			0				large_intestine(1)	1						c.(103-105)taC>taT		chromosome 16 open reading frame 90		G		0,3652		0,0,1826	13.0	15.0	14.0		105	-1.3	1.0	16		14	3,8051		0,3,4024	no	coding-synonymous	C16orf90	NM_001080524.1		0,3,5850	AA,AG,GG		0.0372,0.0,0.0256		35/183	3544819	3,11703	1826	4027	5853	SO:0001819	synonymous_variant	646174							g.chr16:3544819G>A		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.105C>T	16.37:g.3544819G>A						LA16c-306E5.3_ENST00000574423.2_RNA	p.Y35Y	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN			2	107	-			25						Silent	SNP	ENST00000437192.3	37	c.105C>T	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.864105	0.17250	0.0	3.72E-4	ENSG00000215131	ENST00000399645	.	.	.	5.7	-1.31	0.09230	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0974	9.0821	0.36558	0.592:0.0:0.408:0.0	.	.	.	.	X	44	.	.	R	-	1	2	C16orf90	3484820	0.799000	0.28903	0.976000	0.42696	0.917000	0.54804	-0.431000	0.06965	-0.488000	0.06726	0.591000	0.81541	CGA		0.716	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		35	137	0	0	0	1	0	35	137				
KRT2	3849	broad.mit.edu	37	12	53044171	53044171	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53044171T>G	ENST00000309680.3	-	2	773	c.752A>C	c.(751-753)aAt>aCt	p.N251T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	251	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGCTCTGAATTCTGTGATGT	0.483																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(751-753)aAt>aCt		keratin 2							219.0	213.0	215.0					12																	53044171		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53044171T>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.752A>C	12.37:g.53044171T>G	ENSP00000310861:p.Asn251Thr						p.N251T	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	2	773	-			251			Coil 1B.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.752A>C	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211168	0.95069	.	.	ENSG00000172867	ENST00000309680	D	0.88124	-2.34	5.19	4.05	0.47172	Filament (1);	.	.	.	.	D	0.89054	0.6606	L	0.54323	1.7	0.29659	N	0.843393	P	0.46064	0.872	P	0.53988	0.739	D	0.84714	0.0736	9	0.72032	D	0.01	.	11.0304	0.47769	0.0:0.0735:0.0:0.9265	.	251	P35908	K22E_HUMAN	T	251	ENSP00000310861:N251T	ENSP00000310861:N251T	N	-	2	0	KRT2	51330438	1.000000	0.71417	0.009000	0.14445	0.905000	0.53344	6.096000	0.71446	0.943000	0.37553	0.528000	0.53228	AAT		0.483	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		198	845	0	0	0	1	0	198	845				
POLD1	5424	broad.mit.edu	37	19	50905960	50905960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50905960G>A	ENST00000440232.2	+	8	985	c.932G>A	c.(931-933)cGc>cAc	p.R311H	POLD1_ENST00000599857.1_Missense_Mutation_p.R311H|POLD1_ENST00000595904.1_Missense_Mutation_p.R311H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	311					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCCTTGCGCGTGCTCAGC	0.672								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(931-933)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							27.0	26.0	26.0					19																	50905960		2202	4297	6499	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905960G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.932G>A	19.37:g.50905960G>A	ENSP00000406046:p.Arg311His					POLD1_ENST00000599857.1_Missense_Mutation_p.R311H|POLD1_ENST00000595904.1_Missense_Mutation_p.R311H	p.R311H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	8	985	+		all_neural(266;0.0571)	311					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.932G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679948	0.68042	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.12672	2.66	4.69	2.32	0.28847	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.068072	0.64402	D	0.000019	T	0.34135	0.0887	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.28170	-1.0052	10	0.87932	D	0	-11.8143	13.4259	0.61026	0.0:0.3003:0.6997:0.0	.	311;311	E7EVW0;P28340	.;DPOD1_HUMAN	H	311;312	ENSP00000406046:R311H	ENSP00000366129:R312H	R	+	2	0	POLD1	55597772	1.000000	0.71417	0.976000	0.42696	0.203000	0.24098	5.595000	0.67563	1.084000	0.41184	0.491000	0.48974	CGC		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			12	103	0	0	0	1	0	12	103				
ZNF532	55205	broad.mit.edu	37	18	56615358	56615358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56615358G>A	ENST00000336078.4	+	7	3541	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H	ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	922					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTGCTGTATCGCCACTTTGAC	0.418																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(2764-2766)cGc>cAc		zinc finger protein 532							122.0	119.0	120.0					18																	56615358		2203	4297	6500	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56615358G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2765G>A	18.37:g.56615358G>A	ENSP00000338217:p.Arg922His					ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H	p.R922H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			7	3541	+			922					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.2765G>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883244	0.91740	.	.	ENSG00000074657	ENST00000336078	T	0.30981	1.51	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.294510	0.35262	N	0.003333	T	0.40448	0.1117	L	0.60067	1.865	0.34671	D	0.723747	D;D	0.67145	0.991;0.996	P;P	0.48270	0.511;0.572	T	0.49322	-0.8952	10	0.36615	T	0.2	-16.9644	18.7313	0.91736	0.0:0.0:1.0:0.0	.	922;922	B3KXW2;Q9HCE3	.;ZN532_HUMAN	H	922	ENSP00000338217:R922H	ENSP00000338217:R922H	R	+	2	0	ZNF532	54766338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.906000	0.75719	2.783000	0.95769	0.655000	0.94253	CGC		0.418	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		129	662	0	0	0	1	0	129	662				
AKR7L	246181	broad.mit.edu	37	1	19600445	19600445	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19600445C>T	ENST00000429712.1	-	0	243				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTGTCTATCTCGGTGTGGCCG	0.701																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							32.0	35.0	34.0					1																	19600445		690	1591	2281			246181							g.chr1:19600445C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19600445C>T						AKR7L_ENST00000429712.1_RNA								0	123	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	15.55	2.866840	0.51588	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.15	3.15	0.36227	NADP-dependent oxidoreductase domain (3);	0.454501	0.21675	N	0.070814	T	0.50735	0.1633	.	.	.	0.21579	N	0.999631	P;D	0.60160	0.924;0.987	P;P	0.57152	0.622;0.814	T	0.35076	-0.9803	7	.	.	.	.	10.4071	0.44266	0.0:0.7984:0.2015:0.0	.	42;42	F8W7D9;Q8NHP1	.;ARK74_HUMAN	K	42	.	.	E	-	1	0	AKR7L	19473032	0.453000	0.25721	0.458000	0.27068	0.320000	0.28249	2.894000	0.48640	1.772000	0.52199	0.195000	0.17529	GAG		0.701	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		19	55	0	0	0	1	0	19	55				
ZMYND11	10771	broad.mit.edu	37	10	294415	294415	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:294415A>G	ENST00000397962.3	+	13	1795	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	456	Interaction with human adenovirus E1A.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGAGCACCCAGACCACAAAC	0.502																																						ENST00000397962.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(1366-1368)cAg>cGg		zinc finger, MYND-type containing 11							115.0	108.0	111.0					10																	294415		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:294415A>G	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1367A>G	10.37:g.294415A>G	ENSP00000381053:p.Gln456Arg					ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R	p.Q456R			Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	13	1795	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	416			Interaction with human adenovirus E1A.		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1367A>G	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745747	0.89663	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.29908	0.895	0.36571	D	0.873003	D;D;P;P;D;P;D;D;P;D	0.59357	0.984;0.984;0.895;0.956;0.984;0.936;0.965;0.985;0.956;0.965	P;P;P;P;P;P;P;P;P;P	0.61201	0.724;0.632;0.452;0.549;0.724;0.885;0.65;0.643;0.549;0.65	T	0.63659	-0.6587	8	0.33940	T	0.23	-31.5843	16.5764	0.84681	1.0:0.0:0.0:0.0	.	416;456;371;401;456;376;385;402;402;425	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	R	456;416;416;456;371;456;376;362;425;416;439;336;251	.	ENSP00000309992:Q416R	Q	+	2	0	ZMYND11	284415	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.265000	0.95647	2.371000	0.80710	0.533000	0.62120	CAG		0.502	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		57	322	0	0	0	1	0	57	322				
CNTN5	53942	broad.mit.edu	37	11	99872819	99872819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99872819A>G	ENST00000524871.1	+	9	1221	c.931A>G	c.(931-933)Aca>Gca	p.T311A	CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A|CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	311	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTCACGGTTACAGCTGCTAA	0.338																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(931-933)Aca>Gca		contactin 5							89.0	89.0	89.0					11																	99872819		1851	4099	5950	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99872819A>G	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.931A>G	11.37:g.99872819A>G	ENSP00000435637:p.Thr311Ala					CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A|CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A	p.T311A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	9	1221	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	311			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.931A>G	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807120	0.50421	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.68	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106561	0.64402	D	0.000003	T	0.67344	0.2883	L	0.46614	1.455	0.40422	D	0.979856	P;P;P	0.46621	0.722;0.856;0.881	P;P;P	0.53450	0.601;0.466;0.726	T	0.62685	-0.6802	10	0.18276	T	0.48	.	10.7406	0.46152	0.9256:0.0:0.0744:0.0	.	311;237;311	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	A	311;311;311;237;311	ENSP00000433575:T311A;ENSP00000436185:T311A;ENSP00000435637:T311A;ENSP00000393229:T237A;ENSP00000279463:T311A	ENSP00000279463:T311A	T	+	1	0	CNTN5	99378029	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.319000	0.65835	0.989000	0.38761	0.482000	0.46254	ACA		0.338	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		13	63	0	0	0	1	0	13	63				
HOXA9	3205	broad.mit.edu	37	7	27204771	27204771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27204771C>T	ENST00000343483.6	-	1	378	c.306G>A	c.(304-306)gcG>gcA	p.A102A	RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_Silent_p.A102A|RP1-170O19.20_ENST00000465941.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	102					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGCCGTCCGGCGCCGCCGCCG	0.711			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(304-306)gcG>gcA		homeobox A9							6.0	10.0	9.0					7																	27204771		2040	4034	6074	SO:0001819	synonymous_variant	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27204771C>T		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.306G>A	7.37:g.27204771C>T						HOXA9_ENST00000396345.1_Silent_p.A102A|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	p.A102A	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			1	378	-			102					O43369|O43429|Q99820	Silent	SNP	ENST00000343483.6	37	c.306G>A	CCDS5409.1																																																																																				0.711	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			21	87	0	0	0	1	0	21	87				
CWC25	54883	broad.mit.edu	37	17	36963202	36963202	+	Missense_Mutation	SNP	G	G	T	rs368538772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36963202G>T	ENST00000225428.5	-	7	1015	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	240										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGACCCTGAAGACCCTGGTTA	0.512																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(718-720)Ctt>Att		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							96.0	93.0	94.0					17																	36963202		1914	4129	6043	SO:0001583	missense	54883							g.chr17:36963202G>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.718C>A	17.37:g.36963202G>T	ENSP00000225428:p.Leu240Ile					CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	p.L240I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			7	1015	-			240					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.718C>A	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593289	0.13875	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	T;T	0.29655	1.56;1.56	5.27	2.21	0.28008	.	0.579153	0.15532	N	0.257431	T	0.23492	0.0568	L	0.51422	1.61	0.09310	N	1	B;B	0.19583	0.015;0.037	B;B	0.14023	0.01;0.009	T	0.19386	-1.0307	10	0.36615	T	0.2	.	4.5944	0.12322	0.2572:0.1612:0.5816:0.0	.	177;240	B4DJK2;Q9NXE8	.;CWC25_HUMAN	I	240;177	ENSP00000225428:L240I;ENSP00000438566:L177I	ENSP00000225428:L240I	L	-	1	0	CWC25	34216728	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.731000	0.26058	0.373000	0.24621	0.462000	0.41574	CTT		0.512	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		66	306	1	0	5.00936e-31	1	5.8875e-31	66	306				
AKNA	80709	broad.mit.edu	37	9	117120303	117120303	+	Silent	SNP	G	G	A	rs557155287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117120303G>A	ENST00000307564.4	-	12	2798	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S	AKNA_ENST00000374088.3_Silent_p.S879S|AKNA_ENST00000374075.5_Silent_p.S798S|AKNA_ENST00000223791.3_Silent_p.S339S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	879					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGATGCTGCGGACTTGGTGC	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		18481	0.0		0.0	False		,,,				2504	0.001					ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(2635-2637)tcC>tcT		AT-hook transcription factor							65.0	64.0	64.0					9																	117120303		2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117120303G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2637C>T	9.37:g.117120303G>A						AKNA_ENST00000223791.3_Silent_p.S339S|AKNA_ENST00000374075.5_Silent_p.S798S|AKNA_ENST00000374088.3_Silent_p.S879S	p.S879S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			12	2798	-			879					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.2637C>T	CCDS6805.1																																																																																				0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		58	330	0	0	0	1	0	58	330				
ZMAT3	64393	broad.mit.edu	37	3	178748762	178748762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178748762C>T	ENST00000311417.2	-	3	1037	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATAGTAATTTCGGAGTTTCTT	0.438																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(295-297)cGa>cAa		zinc finger, matrin-type 3							119.0	112.0	114.0					3																	178748762		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178748762C>T	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.296G>A	3.37:g.178748762C>T	ENSP00000311221:p.Arg99Gln					ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	p.R99Q	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		3	1037	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		99						Missense_Mutation	SNP	ENST00000311417.2	37	c.296G>A	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598322	0.96614	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.47177	0.85;0.85;0.85	5.47	5.47	0.80525	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.62048	-0.6936	10	0.56958	D	0.05	-13.3478	19.3366	0.94322	0.0:1.0:0.0:0.0	.	99;99	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	Q	99	ENSP00000311221:R99Q;ENSP00000396506:R99Q;ENSP00000398920:R99Q	ENSP00000311221:R99Q	R	-	2	0	ZMAT3	180231456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.773000	0.62331	2.551000	0.86045	0.650000	0.86243	CGA		0.438	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		63	330	0	0	0	1	0	63	330				
TDRD5	163589	broad.mit.edu	37	1	179638537	179638537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179638537C>A	ENST00000367614.1	+	16	3055	c.2696C>A	c.(2695-2697)tCt>tAt	p.S899Y	TDRD5_ENST00000444136.1_Missense_Mutation_p.S953Y|TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	899					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCCTCTGGTTCTGGTATGTTT	0.443																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(2857-2859)tCt>tAt		tudor domain containing 5							123.0	103.0	110.0					1																	179638537		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179638537C>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2696C>A	1.37:g.179638537C>A	ENSP00000356586:p.Ser899Tyr					TDRD5_ENST00000367614.1_Missense_Mutation_p.S899Y|TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y	p.S953Y	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			17	3108	+			899					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2858C>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	4.097	0.016016	0.07959	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34472	2.51;2.51;2.76;1.36	5.5	3.41	0.39046	.	0.791726	0.11065	N	0.603555	T	0.30854	0.0778	L	0.54323	1.7	0.28561	N	0.91114	B;B	0.33212	0.402;0.28	B;B	0.29716	0.106;0.049	T	0.33929	-0.9849	10	0.72032	D	0.01	-4.5519	5.5792	0.17241	0.0:0.7273:0.0:0.2727	.	953;899	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Y	899;899;953;409	ENSP00000356586:S899Y;ENSP00000294848:S899Y;ENSP00000406052:S953Y;ENSP00000410744:S409Y	ENSP00000294848:S899Y	S	+	2	0	TDRD5	177905160	1.000000	0.71417	0.938000	0.37757	0.029000	0.11900	1.229000	0.32600	1.324000	0.45282	-0.143000	0.13931	TCT		0.443	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		56	295	1	0	2.48254e-18	1	2.75398e-18	56	295				
PDZRN4	29951	broad.mit.edu	37	12	41949534	41949534	+	Missense_Mutation	SNP	G	G	A	rs138596022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41949534G>A	ENST00000402685.2	+	7	1345	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R186Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	446	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAGACGGCCGGATTCGAGAA	0.398													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17633	0.0		0.0	False		,,,				2504	0.0					ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(556-558)cGg>cAg		PDZ domain containing ring finger 4		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	154.0	149.0	151.0		1337,563	4.3	0.9	12	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PDZRN4	NM_001164595.1,NM_013377.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	446/1037,188/779	41949534	1,13005	2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41949534G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1337G>A	12.37:g.41949534G>A	ENSP00000384197:p.Arg446Gln					PDZRN4_ENST00000402685.2_Missense_Mutation_p.R446Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q	p.R186Q			Q6ZMN7	PZRN4_HUMAN			7	945	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	446					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.557G>A	CCDS53777.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	32	5.177813	0.94846	0.0	1.16E-4	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.50001	0.76;0.76;0.76	5.16	4.26	0.50523	PDZ/DHR/GLGF (4);	0.087075	0.48767	N	0.000177	T	0.62539	0.2436	L	0.49126	1.545	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	0.999;1.0;0.97	T	0.66492	-0.5910	10	0.87932	D	0	-15.3825	14.1885	0.65623	0.0732:0.0:0.9268:0.0	.	446;186;188	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	446;188;186	ENSP00000384197:R446Q;ENSP00000439990:R188Q;ENSP00000298919:R186Q	ENSP00000298919:R186Q	R	+	2	0	PDZRN4	40235801	1.000000	0.71417	0.915000	0.36163	0.973000	0.67179	7.891000	0.87319	1.489000	0.48450	0.650000	0.86243	CGG		0.398	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		94	478	0	0	0	1	0	94	478				
TEK	7010	broad.mit.edu	37	9	27204926	27204926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27204926G>A	ENST00000380036.4	+	14	2669	c.2227G>A	c.(2227-2229)Ggg>Agg	p.G743R	TEK_ENST00000519097.1_Missense_Mutation_p.G596R|TEK_ENST00000406359.4_Missense_Mutation_p.G700R	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGACCTCGGAGGGGGGAAGAT	0.507																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2227-2229)Ggg>Agg		TEK tyrosine kinase, endothelial							150.0	132.0	138.0					9																	27204926		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204926G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2227G>A	9.37:g.27204926G>A	ENSP00000369375:p.Gly743Arg					TEK_ENST00000406359.4_Missense_Mutation_p.G700R|TEK_ENST00000519097.1_Missense_Mutation_p.G596R	p.G743R	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2669	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	743					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2227G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149456	0.37923	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.73789	-0.75;-0.77;-0.78	6.02	4.19	0.49359	.	0.385891	0.21778	N	0.069259	T	0.69993	0.3173	L	0.44542	1.39	0.38595	D	0.950518	P;B;P;P	0.46706	0.745;0.276;0.535;0.883	P;B;B;P	0.47402	0.448;0.093;0.331;0.546	T	0.65841	-0.6070	10	0.15952	T	0.53	.	12.5129	0.56015	0.1339:0.0:0.8661:0.0	.	596;776;700;743	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	R	596;743;700	ENSP00000430686:G596R;ENSP00000369375:G743R;ENSP00000383977:G700R	ENSP00000369375:G743R	G	+	1	0	TEK	27194926	1.000000	0.71417	0.497000	0.27552	0.159000	0.22180	3.807000	0.55591	0.883000	0.36040	0.549000	0.68633	GGG		0.507	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			77	698	0	0	0	1	0	77	698				
CYP3A7	1551	broad.mit.edu	37	7	99306847	99306847	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99306847T>C	ENST00000336374.2	-	11	1066	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	355					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CATGTCAAGATACTCCAACTG	0.368																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1063-1065)tAt>tGt		cytochrome P450, family 3, subfamily A, polypeptide 7							124.0	111.0	116.0					7																	99306847		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99306847T>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1064A>G	7.37:g.99306847T>C	ENSP00000337450:p.Tyr355Cys						p.Y355C	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			11	1066	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		355					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1064A>G	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	t	12.29	1.894344	0.33442	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.76186	-1.0	3.46	3.46	0.39613	.	0.060024	0.64402	N	0.000002	D	0.91229	0.7236	H	0.99368	4.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92453	0.5971	10	0.87932	D	0	.	10.1349	0.42701	0.0:0.0:0.0:1.0	.	355	P24462	CP3A7_HUMAN	C	355	ENSP00000337450:Y355C	ENSP00000292414:Y355C	Y	-	2	0	CYP3A7	99144783	1.000000	0.71417	0.714000	0.30535	0.045000	0.14185	7.649000	0.83500	1.335000	0.45486	0.254000	0.18369	TAT		0.368	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			31	301	0	0	0	1	0	31	301				
SLC4A3	6508	broad.mit.edu	37	2	220504209	220504209	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220504209T>G	ENST00000358055.3	+	20	3541	c.3029T>G	c.(3028-3030)aTc>aGc	p.I1010S	SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1010	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGGCTTATCGTCAGCCAG	0.662																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3028-3030)aTc>aGc		solute carrier family 4 (anion exchanger), member 3							50.0	57.0	54.0					2																	220504209		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504209T>G		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3029T>G	2.37:g.220504209T>G	ENSP00000350756:p.Ile1010Ser					SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S	p.I1010S			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3541	+		Renal(207;0.0183)	1010			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.3029T>G	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703605	0.68501	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.38	4.38	0.52667	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.96060	0.9038	10	0.87932	D	0	.	14.0874	0.64968	0.0:0.0:0.0:1.0	.	714;1010;1037	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	S	1010;1010;1037;1037;270;1010	ENSP00000350756:I1010S;ENSP00000362865:I1010S;ENSP00000273063:I1037S;ENSP00000362867:I1037S;ENSP00000314006:I1010S	ENSP00000273063:I1037S	I	+	2	0	SLC4A3	220212453	1.000000	0.71417	0.932000	0.37286	0.580000	0.36256	7.699000	0.84547	1.968000	0.57251	0.440000	0.28878	ATC		0.662	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		83	458	0	0	0	1	0	83	458				
APOL2	23780	broad.mit.edu	37	22	36624001	36624001	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36624001G>T	ENST00000249066.6	-	6	939	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	APOL2_ENST00000451256.2_Missense_Mutation_p.L267M|APOL2_ENST00000358502.5_Missense_Mutation_p.L155M	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	155					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCTGCTCCCAGACCCATGCCA	0.572																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(463-465)Ctg>Atg		apolipoprotein L, 2							43.0	50.0	48.0					22																	36624001		2180	4271	6451	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624001G>T	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.463C>A	22.37:g.36624001G>T	ENSP00000249066:p.Leu155Met					APOL2_ENST00000358502.5_Missense_Mutation_p.L155M|APOL2_ENST00000451256.2_Missense_Mutation_p.L267M	p.L155M	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	939	-			155					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.463C>A	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340718	0.24339	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.08807	3.05;3.05;3.05	3.66	-0.134	0.13481	.	0.149389	0.44688	D	0.000421	T	0.09992	0.0245	M	0.77486	2.375	0.09310	N	1	P;P	0.36412	0.463;0.552	B;B	0.38428	0.212;0.273	T	0.13072	-1.0523	10	0.54805	T	0.06	.	3.0361	0.06122	0.2466:0.0:0.5428:0.2106	.	267;155	B4E1T5;Q9BQE5	.;APOL2_HUMAN	M	155;155;267	ENSP00000351292:L155M;ENSP00000249066:L155M;ENSP00000403153:L267M	ENSP00000249066:L155M	L	-	1	2	APOL2	34953947	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	-0.260000	0.08708	0.318000	0.23185	0.411000	0.27672	CTG		0.572	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		15	259	1	0	2.31682e-05	1	2.36778e-05	15	259				
ZNF292	23036	broad.mit.edu	37	6	87968743	87968743	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968743A>G	ENST00000369577.3	+	8	5439	c.5396A>G	c.(5395-5397)aAc>aGc	p.N1799S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1799						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTCAGTAAACACTGTGCAA	0.353																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5395-5397)aAc>aGc		zinc finger protein 292							37.0	37.0	37.0					6																	87968743		1841	4092	5933	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968743A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5396A>G	6.37:g.87968743A>G	ENSP00000358590:p.Asn1799Ser					ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	p.N1799S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5439	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1799					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5396A>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961086	0.34565	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08008	3.14;3.15	5.86	4.7	0.59300	.	0.216097	0.37095	N	0.002260	T	0.04907	0.0132	N	0.24115	0.695	0.33391	D	0.576128	D	0.63880	0.993	P	0.51516	0.672	T	0.17868	-1.0355	10	0.72032	D	0.01	.	12.125	0.53913	0.9332:0.0:0.0668:0.0	.	1799	O60281	ZN292_HUMAN	S	1799;1794	ENSP00000358590:N1799S;ENSP00000342847:N1794S	ENSP00000342847:N1794S	N	+	2	0	ZNF292	88025462	0.554000	0.26522	1.000000	0.80357	0.612000	0.37316	1.086000	0.30853	1.153000	0.42468	-0.263000	0.10527	AAC		0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		11	123	0	0	0	1	0	11	123				
VPS37B	79720	broad.mit.edu	37	12	123351959	123351959	+	Missense_Mutation	SNP	G	G	A	rs559161851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123351959G>A	ENST00000267202.2	-	4	943	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	188	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TAGGGAAGGGGGGCGGTAGGT	0.701																																						ENST00000267202.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(562-564)Ccc>Tcc		vacuolar protein sorting 37 homolog B (S. cerevisiae)							29.0	35.0	33.0					12																	123351959		2200	4290	6490	SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123351959G>A	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.562C>T	12.37:g.123351959G>A	ENSP00000267202:p.Pro188Ser						p.P188S	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	943	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		188			Pro-rich.			Missense_Mutation	SNP	ENST00000267202.2	37	c.562C>T	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344724	0.11126	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.59364	0.27;0.3	5.33	-6.21	0.02065	.	0.673292	0.14633	N	0.307669	T	0.42653	0.1212	L	0.60455	1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28073	-1.0055	10	0.40728	T	0.16	-3.6739	5.8472	0.18673	0.1619:0.4145:0.3326:0.091	.	188	Q9H9H4	VP37B_HUMAN	S	188;186	ENSP00000267202:P188S;ENSP00000446075:P186S	ENSP00000267202:P188S	P	-	1	0	VPS37B	121917912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-0.946000	0.03677	-0.176000	0.13171	CCC		0.701	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		14	405	0	0	0	1	0	14	405				
ZNF660	285349	broad.mit.edu	37	3	44635870	44635870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44635870G>T	ENST00000322734.2	+	3	518	c.185G>T	c.(184-186)aGt>aTt	p.S62I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTTAGTCAGAGTGCAAACCTC	0.438																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(184-186)aGt>aTt		zinc finger protein 660							103.0	99.0	100.0					3																	44635870		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635870G>T	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.185G>T	3.37:g.44635870G>T	ENSP00000324605:p.Ser62Ile					RP11-944L7.4_ENST00000457331.1_RNA	p.S62I	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	518	+			62					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.185G>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765432	0.49574	.	.	ENSG00000144792	ENST00000322734	T	0.07800	3.16	4.46	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.25332	0.735	0.25836	N	0.984119	B	0.24576	0.106	B	0.23150	0.044	T	0.30060	-0.9991	8	.	.	.	.	5.1292	0.14901	0.1005:0.0:0.5758:0.3236	.	62	Q6AZW8	ZN660_HUMAN	I	62	ENSP00000324605:S62I	.	S	+	2	0	ZNF660	44610874	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.305000	0.08188	2.469000	0.83416	0.655000	0.94253	AGT		0.438	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		75	223	1	0	6.72169e-28	1	7.80062e-28	75	223				
GABRB1	2560	broad.mit.edu	37	4	47427969	47427969	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47427969C>T	ENST00000295454.3	+	9	1651	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GABRB1_ENST00000538619.1_Silent_p.S383S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	453					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAAGTGGTCCCGAATGTTTT	0.483																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1357-1359)tcC>tcT		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						112.0	108.0	109.0					4																	47427969		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427969C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1359C>T	4.37:g.47427969C>T						GABRB1_ENST00000538619.1_Silent_p.S383S	p.S453S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1651	+			453					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1359C>T	CCDS3474.1																																																																																				0.483	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			126	760	0	0	0	1	0	126	760				
TBC1D25	4943	broad.mit.edu	37	X	48419054	48419054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48419054G>T	ENST00000376771.4	+	6	2099	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	586					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGATGCAAGAGGTAGGCTCCC	0.597																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1756-1758)gaG>gaT		TBC1 domain family, member 25							89.0	76.0	80.0					X																	48419054		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48419054G>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1758G>T	X.37:g.48419054G>T	ENSP00000365962:p.Glu586Asp					TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D	p.E586D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	2099	+			586					Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1758G>T	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	2.166	-0.390994	0.04932	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14766	2.49;2.48	4.73	3.86	0.44501	Rab-GAP/TBC domain (1);	0.939161	0.08968	N	0.867691	T	0.13841	0.0335	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25257	-1.0137	10	0.49607	T	0.09	-13.5907	11.8855	0.52600	0.0:0.1872:0.8128:0.0	.	590;528;586	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	586;332	ENSP00000365962:E586D;ENSP00000444091:E332D	ENSP00000365962:E586D	E	+	3	2	TBC1D25	48303998	0.262000	0.24073	0.184000	0.23157	0.294000	0.27393	0.335000	0.19806	0.906000	0.36621	0.436000	0.28706	GAG		0.597	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		16	522	1	0	9.16793e-09	1	9.60025e-09	16	522				
KLHL26	55295	broad.mit.edu	37	19	18779809	18779809	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18779809G>A	ENST00000300976.4	+	3	1692	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	534										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTATGTGCCGGAGACGGACC	0.677																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1600-1602)ccG>ccA		kelch-like family member 26							48.0	47.0	47.0					19																	18779809		2203	4298	6501	SO:0001819	synonymous_variant	55295							g.chr19:18779809G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1602G>A	19.37:g.18779809G>A						KLHL26_ENST00000599006.1_Intron	p.P534P	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	1692	+			534					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1602G>A	CCDS12384.1																																																																																				0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		64	363	0	0	0	1	0	64	363				
C16orf54	283897	broad.mit.edu	37	16	29755643	29755643	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29755643G>A	ENST00000329410.3	-	2	725	c.630C>T	c.(628-630)atC>atT	p.I210I	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	210						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGAAAGCTGAGATCTGCTCCA	0.672																																						ENST00000329410.3																			0				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(628-630)atC>atT		chromosome 16 open reading frame 54							15.0	17.0	16.0					16																	29755643		2090	4165	6255	SO:0001819	synonymous_variant	283897					integral to membrane		g.chr16:29755643G>A	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.630C>T	16.37:g.29755643G>A							p.I210I	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN			2	725	-			210					A6NJR6|Q8NAB0	Silent	SNP	ENST00000329410.3	37	c.630C>T	CCDS10652.1																																																																																				0.672	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		20	131	0	0	0	1	0	20	131				
LRRC27	80313	broad.mit.edu	37	10	134161812	134161812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134161812C>T	ENST00000368614.3	+	6	983	c.878C>T	c.(877-879)gCg>gTg	p.A293V	LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000392638.2_Missense_Mutation_p.A293V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	293										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATCTCAAGGCGGCCTTGAAC	0.463																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(877-879)gCg>gTg		leucine rich repeat containing 27							88.0	83.0	85.0					10																	134161812		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134161812C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.878C>T	10.37:g.134161812C>T	ENSP00000357603:p.Ala293Val					LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V|LRRC27_ENST00000368614.3_Missense_Mutation_p.A293V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V	p.A293V			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	6	1073	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	293					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.878C>T	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.76|11.76	1.733321|1.733321	0.30684|0.30684	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000450442	T;T;T;T;T;T;T;T|.	0.48836|.	2.51;2.44;2.44;2.4;2.4;4.16;4.16;0.8|.	4.01|4.01	2.09|2.09	0.27110|0.27110	.|.	0.228756|.	0.27787|.	N|.	0.017860|.	T|T	0.27489|0.27489	0.0675|0.0675	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;D;B;B;B|.	0.65815|.	0.032;0.995;0.141;0.033;0.131|.	B;P;B;B;B|.	0.59357|.	0.018;0.856;0.042;0.012;0.018|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.45353|.	T|.	0.12|.	-12.7724|-12.7724	4.1531|4.1531	0.10247|0.10247	0.233:0.6465:0.0:0.1206|0.233:0.6465:0.0:0.1206	.|.	293;166;231;293;293|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3|.	.;.;.;LRC27_HUMAN;.|.	V|W	293;293;293;293;293;231;231;166|245	ENSP00000357604:A293V;ENSP00000376413:A293V;ENSP00000342641:A293V;ENSP00000357603:A293V;ENSP00000357602:A293V;ENSP00000357601:A231V;ENSP00000357599:A231V;ENSP00000407949:A166V|.	ENSP00000342641:A293V|.	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134011802|134011802	0.003000|0.003000	0.15002|0.15002	0.128000|0.128000	0.21923|0.21923	0.082000|0.082000	0.17680|0.17680	0.114000|0.114000	0.15520|0.15520	0.964000|0.964000	0.38108|0.38108	0.591000|0.591000	0.81541|0.81541	GCG|CGG		0.463	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		119	511	0	0	0	1	0	119	511				
PCDHB14	56122	broad.mit.edu	37	5	140605012	140605012	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140605012G>T	ENST00000239449.4	+	1	1935	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.721																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1933-1935)aaG>aaT									12.0	14.0	14.0					5																	140605012		1766	3717	5483	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605012G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1935G>T	5.37:g.140605012G>T	ENSP00000239449:p.Lys645Asn					PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	p.K645N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1935	+			645			Cadherin 6.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1935G>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.38	1.335100	0.24253	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53640	0.61;0.61	3.9	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61426	0.2346	M	0.70787	2.145	0.26717	N	0.970869	D	0.53745	0.962	P	0.61658	0.892	T	0.51888	-0.8648	9	0.87932	D	0	.	8.0146	0.30374	0.0925:0.1633:0.7443:0.0	.	645	Q9Y5E9	PCDBE_HUMAN	N	492;645	ENSP00000444518:K492N;ENSP00000239449:K645N	ENSP00000239449:K645N	K	+	3	2	PCDHB14	140585196	0.013000	0.17824	0.933000	0.37362	0.221000	0.24807	0.095000	0.15127	0.707000	0.31934	0.650000	0.86243	AAG		0.721	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		107	332	1	0	1.02947e-67	1	1.30449e-67	107	332				
FAM219A	203259	broad.mit.edu	37	9	34402709	34402709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34402709C>T	ENST00000445726.1	-	3	563	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	FAM219A_ENST00000379087.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000297620.4_Missense_Mutation_p.R69Q|FAM219A_ENST00000379089.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379078.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379081.1_Missense_Mutation_p.R57Q|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74Q	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	86								p.R69Q(1)									CTACCTTGTTCGGGCCATGAC	0.622																																						ENST00000445726.1																			1	Substitution - Missense(1)	p.R69Q(1)	kidney(1)								c.(256-258)cGa>cAa		family with sequence similarity 219, member A							180.0	126.0	144.0					9																	34402709		2203	4300	6503	SO:0001583	missense	203259							g.chr9:34402709C>T	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.257G>A	9.37:g.34402709C>T	ENSP00000392452:p.Arg86Gln					FAM219A_ENST00000379078.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74Q|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379089.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379081.1_Missense_Mutation_p.R57Q|FAM219A_ENST00000297620.4_Missense_Mutation_p.R69Q|FAM219A_ENST00000379087.1_Missense_Mutation_p.R68Q	p.R86Q	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN			3	563	-			86					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	c.257G>A	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397987	0.96030	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409;ENST00000379078	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.75447	2.3	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998	D;D;D;D;D	0.83275	0.995;0.99;0.996;0.99;0.979	T	0.81302	-0.0994	9	0.59425	D	0.04	-6.0991	17.6693	0.88212	0.0:1.0:0.0:0.0	.	75;86;58;58;69	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	Q	85;68;68;57;74;86;69;85;85	.	ENSP00000297620:R69Q	R	-	2	0	C9orf25	34392709	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.226000	0.78060	2.415000	0.81967	0.561000	0.74099	CGA		0.622	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		51	246	0	0	0	1	0	51	246				
TMEM175	84286	broad.mit.edu	37	4	952124	952124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:952124A>G	ENST00000264771.4	+	11	1540	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R|TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	452						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACCTCATGCAGATCGCCGTG	0.697																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1354-1356)cAg>cGg		transmembrane protein 175							54.0	52.0	52.0					4																	952124		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:952124A>G	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1355A>G	4.37:g.952124A>G	ENSP00000264771:p.Gln452Arg					TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R|TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R	p.Q452R	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1540	+			452					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1355A>G	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292900	0.40594	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.48522	1.43;1.4;0.81	5.05	5.05	0.67936	.	0.069000	0.64402	D	0.000013	T	0.49115	0.1538	M	0.66939	2.045	0.35427	D	0.793693	P;D	0.53151	0.919;0.958	B;P	0.47528	0.395;0.549	T	0.58618	-0.7605	10	0.17832	T	0.49	-4.8199	11.1651	0.48539	1.0:0.0:0.0:0.0	.	370;452	D3DVN5;Q9BSA9	.;TM175_HUMAN	R	452;336;370	ENSP00000264771:Q452R;ENSP00000427039:Q336R;ENSP00000423669:Q370R	ENSP00000264771:Q452R	Q	+	2	0	TMEM175	942124	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	6.677000	0.74503	1.897000	0.54924	0.402000	0.26972	CAG		0.697	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		56	267	0	0	0	1	0	56	267				
UFC1	51506	broad.mit.edu	37	1	161123792	161123792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161123792C>T	ENST00000368003.5	+	1	251	c.5C>T	c.(4-6)gCg>gTg	p.A2V	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	2					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCAAGATGGCGGATGAAGCC	0.567																																						ENST00000368003.5																			0				endometrium(1)|lung(9)	10						c.(4-6)gCg>gTg		ubiquitin-fold modifier conjugating enzyme 1							96.0	85.0	89.0					1																	161123792		2203	4300	6503	SO:0001583	missense	51506				protein ufmylation		protein binding|UFM1 conjugating enzyme activity	g.chr1:161123792C>T	AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.5C>T	1.37:g.161123792C>T	ENSP00000356982:p.Ala2Val					UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	p.A2V	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	251	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		2					A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	ENST00000368003.5	37	c.5C>T	CCDS1220.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368124	0.42003	.	.	ENSG00000143222	ENST00000368003	T	0.38722	1.12	5.98	5.07	0.68467	.	0.061965	0.64402	D	0.000006	T	0.02649	0.0080	N	0.00162	-1.95	0.49582	D	0.999807	B	0.06786	0.001	B	0.01281	0.0	T	0.45440	-0.9261	10	0.02654	T	1	-14.3177	9.4486	0.38712	0.1438:0.7842:0.0:0.072	.	2	Q9Y3C8	UFC1_HUMAN	V	2	ENSP00000356982:A2V	ENSP00000356982:A2V	A	+	2	0	UFC1	159390416	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.058000	0.57463	1.552000	0.49463	-0.154000	0.13518	GCG		0.567	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080810.1	NM_016406		54	259	0	0	0	1	0	54	259				
BSX	390259	broad.mit.edu	37	11	122848534	122848534	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848534T>C	ENST00000343035.2	-	3	573	c.525A>G	c.(523-525)gaA>gaG	p.E175E		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	175					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GTGCTTTGGGTTCGTCTTGGC	0.592																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(523-525)gaA>gaG		brain-specific homeobox							62.0	64.0	63.0					11																	122848534		1894	4126	6020	SO:0001819	synonymous_variant	390259							g.chr11:122848534T>C		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.525A>G	11.37:g.122848534T>C							p.E175E	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	573	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	175						Silent	SNP	ENST00000343035.2	37	c.525A>G	CCDS41728.1																																																																																				0.592	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		65	223	0	0	0	1	0	65	223				
HSPA8	3312	broad.mit.edu	37	11	122930388	122930388	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122930388G>T	ENST00000532636.1	-	5	1032	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000534624.1_Missense_Mutation_p.L305M|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	305	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGCATTCAGTTCTTCAAAT	0.498																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(913-915)Ctg>Atg		heat shock 70kDa protein 8							48.0	50.0	49.0					11																	122930388		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930388G>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.913C>A	11.37:g.122930388G>T	ENSP00000437125:p.Leu305Met					HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M|HSPA8_ENST00000532636.1_Missense_Mutation_p.L305M|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M	p.L305M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1189	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	305			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.913C>A	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926013	0.52759	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01838	4.61;4.61;4.61;4.61;4.61;4.61;4.61;4.61	4.65	0.489	0.16854	.	0.166857	0.38778	N	0.001580	T	0.08626	0.0214	M	0.69523	2.12	0.80722	D	1	P;D;D;P	0.69078	0.877;0.997;0.997;0.877	P;D;D;P	0.75020	0.553;0.985;0.974;0.553	T	0.01349	-1.1378	10	0.56958	D	0.05	-13.7035	9.267	0.37647	0.3321:0.0:0.6679:0.0	.	305;305;305;305	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	M	305;159;305;305;305;69;286;245	ENSP00000437125:L305M;ENSP00000437189:L159M;ENSP00000432083:L305M;ENSP00000404372:L305M;ENSP00000227378:L305M;ENSP00000433316:L69M;ENSP00000433584:L286M;ENSP00000432884:L245M	ENSP00000227378:L305M	L	-	1	2	HSPA8	122435598	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.041000	0.41213	-0.027000	0.13873	-0.369000	0.07265	CTG		0.498	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			45	224	1	0	4.67007e-22	1	5.27622e-22	45	224				
ORC5	5001	broad.mit.edu	37	7	103828724	103828724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103828724C>T	ENST00000297431.4	-	6	801	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_Missense_Mutation_p.R220Q|ORC5_ENST00000545943.1_Missense_Mutation_p.R88Q	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	220					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTTCAAATCTCGACAAACAGT	0.353																																						ENST00000545943.1																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(262-264)cGa>cAa		origin recognition complex, subunit 5							89.0	91.0	91.0					7																	103828724		2203	4300	6503	SO:0001583	missense	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103828724C>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.659G>A	7.37:g.103828724C>T	ENSP00000297431:p.Arg220Gln					ORC5_ENST00000447452.2_Missense_Mutation_p.R220Q|ORC5_ENST00000297431.4_Missense_Mutation_p.R220Q|ORC5_ENST00000485726.1_5'UTR	p.R88Q			O43913	ORC5_HUMAN			7	888	-			220					A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	c.263G>A	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.627341	0.96671	.	.	ENSG00000164815	ENST00000297431;ENST00000545943;ENST00000447452	T;T;T	0.62639	1.6;0.6;0.01	5.43	5.43	0.79202	.	0.051598	0.64402	D	0.000001	T	0.81098	0.4752	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.79108	0.992;0.99;0.806	T	0.82768	-0.0294	10	0.59425	D	0.04	.	17.7801	0.88522	0.0:1.0:0.0:0.0	.	220;220;220	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	Q	220;88;220	ENSP00000297431:R220Q;ENSP00000438018:R88Q;ENSP00000395747:R220Q	ENSP00000297431:R220Q	R	-	2	0	ORC5	103615960	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.060000	0.76692	2.700000	0.92200	0.655000	0.94253	CGA		0.353	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		52	265	0	0	0	1	0	52	265				
P2RY1	5028	broad.mit.edu	37	3	152554451	152554451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554451G>T	ENST00000305097.3	+	1	1716	c.880G>T	c.(880-882)Gca>Tca	p.A294S	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	294					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCAGACCCCAGCAATGTGTGC	0.458																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(880-882)Gca>Tca		purinergic receptor P2Y, G-protein coupled, 1							110.0	111.0	111.0					3																	152554451		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554451G>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.880G>T	3.37:g.152554451G>T	ENSP00000304767:p.Ala294Ser						p.A294S	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1716	+			294						Missense_Mutation	SNP	ENST00000305097.3	37	c.880G>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912569	0.17907	.	.	ENSG00000169860	ENST00000305097	T	0.66995	-0.24	5.58	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.318404	0.32204	N	0.006426	T	0.40094	0.1103	N	0.04043	-0.29	0.22142	N	0.999337	B	0.12013	0.005	B	0.19391	0.025	T	0.19679	-1.0298	10	0.08381	T	0.77	.	10.687	0.45850	0.0729:0.1321:0.795:0.0	.	294	P47900	P2RY1_HUMAN	S	294	ENSP00000304767:A294S	ENSP00000304767:A294S	A	+	1	0	P2RY1	154037141	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.233000	0.65337	1.360000	0.45960	-0.251000	0.11542	GCA		0.458	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		81	390	1	0	1.91123e-38	1	2.30379e-38	81	390				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		14	409	0	0	0	1	0	14	409				
RBKS	64080	broad.mit.edu	37	2	28081321	28081321	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28081321C>T	ENST00000302188.3	-	2	959	c.207G>A	c.(205-207)acG>acA	p.T69T	RBKS_ENST00000444339.2_Silent_p.T69T	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	69					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACACCATGGACGTCATTGCTC	0.418																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(205-207)acG>acA		ribokinase							106.0	96.0	100.0					2																	28081321		2203	4300	6503	SO:0001819	synonymous_variant	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28081321C>T	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.207G>A	2.37:g.28081321C>T						RBKS_ENST00000444339.2_Silent_p.T69T	p.T69T	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			2	959	-	Acute lymphoblastic leukemia(172;0.155)		69					A9UK04|B4DV96	Silent	SNP	ENST00000302188.3	37	c.207G>A	CCDS1762.1																																																																																				0.418	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		22	306	0	0	0	1	0	22	306				
DOCK2	1794	broad.mit.edu	37	5	169138991	169138991	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169138991G>A	ENST00000256935.8	+	16	1615	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.D39N|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	512	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATGTTTCGACATCGGTCA	0.498																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(1534-1536)cGa>cAa		dedicator of cytokinesis 2							203.0	171.0	182.0					5																	169138991		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169138991G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1535G>A	5.37:g.169138991G>A	ENSP00000256935:p.Arg512Gln					DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D39N	p.R512Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		16	1615	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	512			DHR-1.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.1535G>A	CCDS4371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.340564|5.340564	0.95783|0.95783	.|.	.|.	ENSG00000134516|ENSG00000134516	ENST00000520908|ENST00000256935;ENST00000343291	T|T	0.07327|0.13778	3.2|2.56	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44180|0.44180	0.1281|0.1281	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	P|D;D	0.36483|0.89917	0.555|1.0;1.0	B|D;D	0.28553|0.87578	0.091|0.996;0.998	T|T	0.43845|0.43845	-0.9366|-0.9366	9|10	0.30078|0.66056	T|D	0.28|0.02	.|.	19.3773|19.3773	0.94517|0.94517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39|512;512	E7ERW7|E5RFJ0;Q92608	.|.;DOCK2_HUMAN	N|Q	39|512;30	ENSP00000429283:D39N|ENSP00000256935:R512Q	ENSP00000429283:D39N|ENSP00000256935:R512Q	D|R	+|+	1|2	0|0	DOCK2|DOCK2	169071569|169071569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.956000|7.956000	0.87863|0.87863	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		85	412	0	0	0	1	0	85	412				
CDIPT	10423	broad.mit.edu	37	16	29870526	29870526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29870526C>T	ENST00000219789.6	-	6	1504	c.626G>A	c.(625-627)cGc>cAc	p.R209H	CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000567459.1_5'UTR|CDIPT_ENST00000566113.1_Missense_Mutation_p.R164H	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	209					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						CTTCTTGGCGCGGTCTGCTGC	0.667																																						ENST00000219789.6																			0				endometrium(1)|lung(3)	4						c.(625-627)cGc>cAc		CDP-diacylglycerol--inositol 3-phosphatidyltransferase							26.0	25.0	25.0					16																	29870526		2195	4290	6485	SO:0001583	missense	10423					endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	g.chr16:29870526C>T	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"""phosphatidylinositol synthase"""	605893	"""CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"""			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.626G>A	16.37:g.29870526C>T	ENSP00000219789:p.Arg209His					CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H|CDIPT_ENST00000567459.1_5'UTR|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000566113.1_Missense_Mutation_p.R164H	p.R209H	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN			6	1504	-			209					B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	37	c.626G>A	CCDS10657.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712574	0.96830	.	.	ENSG00000103502	ENST00000219789	T	0.51574	0.7	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.72130	-0.4383	10	0.56958	D	0.05	-5.9296	17.2093	0.86926	0.0:1.0:0.0:0.0	.	164;209;233	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	H	209	ENSP00000219789:R209H	ENSP00000219789:R209H	R	-	2	0	CDIPT	29778027	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	6.382000	0.73167	2.664000	0.90586	0.655000	0.94253	CGC		0.667	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		12	41	0	0	0	1	0	12	41				
LYRM4	57128	broad.mit.edu	37	6	5109689	5109689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5109689T>C	ENST00000330636.4	-	3	449	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000468929.1_Nonstop_Mutation_p.*41W|LYRM4_ENST00000606472.1_5'Flank	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	82					small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				TTCTCAATGATCAGCTTGTCA	0.562																																					NSCLC(130;1006 2426 17608 36797)	ENST00000468929.1																			0				endometrium(1)	1						c.(121-123)tgA>tgG		LYR motif containing 4							144.0	133.0	137.0					6																	5109689		2203	4300	6503	SO:0001583	missense	57128					mitochondrion|nucleus		g.chr6:5109689T>C	AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"""LYR motif containing"""	21365	protein-coding gene	gene with protein product		613311	"""chromosome 6 open reading frame 149"""	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.244A>G	6.37:g.5109689T>C	ENSP00000418787:p.Ile82Val					LYRM4_ENST00000330636.4_Missense_Mutation_p.I82V|LYRM4_ENST00000464010.1_3'UTR	p.*41W			Q9HD34	LYRM4_HUMAN			2	131	-	Ovarian(93;0.11)	all_hematologic(90;0.0901)	0					A8K543|Q5XKP1	Nonstop_Mutation	SNP	ENST00000330636.4	37	c.123A>G	CCDS4493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.580|7.580	0.668632|0.668632	0.14776|0.14776	.|.	.|.	ENSG00000214113|ENSG00000214113	ENST00000330636|ENST00000468929	T|.	0.30448|.	1.53|.	5.42|5.42	-7.49|-7.49	0.01355|0.01355	.|.	0.389310|.	0.17005|.	U|.	0.190765|.	T|.	0.24890|.	0.0604|.	.|.	.|.	.|.	0.22787|0.22787	N|N	0.99874|0.99874	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.22243|.	-1.0222|.	9|.	0.02654|.	T|.	1|.	.|.	17.4863|17.4863	0.87689|0.87689	0.0:0.7223:0.0:0.2777|0.0:0.7223:0.0:0.2777	.|.	82|.	Q9HD34|.	LYRM4_HUMAN|.	V|W	82|41	ENSP00000418787:I82V|.	ENSP00000418787:I82V|.	I|X	-|-	1|3	0|0	LYRM4|LYRM4	5054688|5054688	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.949000|0.949000	0.60115|0.60115	-1.611000|-1.611000	0.02062|0.02062	-1.255000|-1.255000	0.02481|0.02481	-0.256000|-0.256000	0.11100|0.11100	ATC|TGA		0.562	LYRM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353461.3	NM_020408		95	532	0	0	0	1	0	95	532				
CEP89	84902	broad.mit.edu	37	19	33450866	33450866	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33450866C>A	ENST00000305768.5	-	3	333	c.245G>T	c.(244-246)aGc>aTc	p.S82I	CEP89_ENST00000590597.2_Missense_Mutation_p.S82I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	82					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTCAACACTGCTCACATCACT	0.587																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(244-246)aGc>aTc		centrosomal protein 89kDa							138.0	112.0	121.0					19																	33450866		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33450866C>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.245G>T	19.37:g.33450866C>A	ENSP00000306105:p.Ser82Ile					CEP89_ENST00000590597.1_Missense_Mutation_p.S82I	p.S82I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			3	333	-			82					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.245G>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110321	0.08780	.	.	ENSG00000121289	ENST00000305768	T	0.33438	1.41	5.48	-0.632	0.11523	.	0.450229	0.24359	N	0.039210	T	0.15132	0.0365	N	0.16656	0.425	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.11329	0.003;0.006	T	0.13629	-1.0502	10	0.51188	T	0.08	-1.0987	5.9943	0.19485	0.2923:0.2354:0.4723:0.0	.	82;82	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	I	82	ENSP00000306105:S82I	ENSP00000306105:S82I	S	-	2	0	CEP89	38142706	0.083000	0.21467	0.000000	0.03702	0.002000	0.02628	1.009000	0.29886	-0.007000	0.14345	-0.165000	0.13383	AGC		0.587	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		30	172	1	0	7.26314e-15	1	7.90818e-15	30	172				
STAB1	23166	broad.mit.edu	37	3	52550718	52550718	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52550718G>A	ENST00000321725.6	+	41	4373	c.4297G>A	c.(4297-4299)Gac>Aac	p.D1433N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1433	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGCGTGCAGGACTCGGCCGG	0.682																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4297-4299)Gac>Aac		stabilin 1							23.0	27.0	26.0					3																	52550718		2202	4299	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52550718G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4297G>A	3.37:g.52550718G>A	ENSP00000312946:p.Asp1433Asn						p.D1433N	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	41	4373	+			1433			EGF-like 10.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4297G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541032	0.00934	.	.	ENSG00000010327	ENST00000321725	T	0.02944	4.1	4.51	1.36	0.22044	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.333636	0.30979	N	0.008492	T	0.01940	0.0061	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.49995	-0.8879	10	0.02654	T	1	.	7.1225	0.25453	0.3219:0.0:0.6781:0.0	.	1433	Q9NY15	STAB1_HUMAN	N	1433	ENSP00000312946:D1433N	ENSP00000312946:D1433N	D	+	1	0	STAB1	52525758	0.005000	0.15991	0.098000	0.21074	0.164000	0.22412	1.182000	0.32029	0.033000	0.15463	0.462000	0.41574	GAC		0.682	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		32	132	0	0	0	1	0	32	132				
ATP4A	495	broad.mit.edu	37	19	36053540	36053540	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36053540C>T	ENST00000262623.3	-	4	245	c.217G>A	c.(217-219)Ggc>Agc	p.G73S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	73					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCAGAGAGGCCCTGGGACAGA	0.672																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.e4-1		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						9.0	10.0	10.0					19																	36053540		2180	4270	6450	SO:0001630	splice_region_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36053540C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.217-1G>A	19.37:g.36053540C>T							p.G73_splice	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	245	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		73					O00738	Splice_Site	SNP	ENST00000262623.3	37	c.216_splice	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.982953	0.74474	.	.	ENSG00000105675	ENST00000262623	D	0.99660	-6.32	3.45	3.45	0.39498	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.50627	D	0.000111	D	0.99711	0.9889	H	0.96430	3.82	0.51233	D	0.999913	D	0.89917	1.0	D	0.97110	1.0	D	0.97331	0.9950	10	0.87932	D	0	.	12.4861	0.55874	0.0:1.0:0.0:0.0	.	73	P20648	ATP4A_HUMAN	S	73	ENSP00000262623:G73S	ENSP00000262623:G73S	G	-	1	0	ATP4A	40745380	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.266000	0.78452	1.762000	0.52044	0.465000	0.42564	GGC		0.672	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	Missense_Mutation	11	60	0	0	0	1	0	11	60				
MKI67	4288	broad.mit.edu	37	10	129905311	129905311	+	Missense_Mutation	SNP	C	C	T	rs78597473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905311C>T	ENST00000368654.3	-	13	5168	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1598	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTGTGACCTCGTGTCTGGAA	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4792-4794)cGa>cAa		marker of proliferation Ki-67							190.0	184.0	186.0					10																	129905311		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905311C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4793G>A	10.37:g.129905311C>T	ENSP00000357643:p.Arg1598Gln					MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	p.R1598Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5168	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1598			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4793G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968281	0.34754	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	3.07	2.16	0.27623	.	0.251885	0.26349	N	0.024891	T	0.01454	0.0047	N	0.08118	0	0.21445	N	0.999688	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.48502	-0.9030	10	0.30854	T	0.27	.	11.0914	0.48119	0.0:0.1897:0.8103:0.0	.	1597;1238;1598	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1598;1238;1597	ENSP00000357643:R1598Q;ENSP00000357642:R1238Q	ENSP00000357642:R1238Q	R	-	2	0	MKI67	129795301	0.211000	0.23529	0.105000	0.21289	0.025000	0.11179	1.344000	0.33941	0.893000	0.36288	-0.226000	0.12346	CGA		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		217	881	0	0	0	1	0	217	881				
NRP2	8828	broad.mit.edu	37	2	206659526	206659526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659526C>A	ENST00000357785.5	+	17	2556	c.2525C>A	c.(2524-2526)tCt>tAt	p.S842Y	NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y|NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000360409.3_Missense_Mutation_p.S847Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACCTCAGGGTCTGGCGCCCCC	0.542																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2539-2541)tCt>tAt		neuropilin 2							86.0	81.0	82.0					2																	206659526		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206659526C>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2525C>A	2.37:g.206659526C>A	ENSP00000350432:p.Ser842Tyr					NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000357785.5_Missense_Mutation_p.S842Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y|NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y	p.S847Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			17	3331	+			847					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2540C>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630746	0.14322	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.88046	-2.2;-2.22;-2.29;-2.26;-2.33	5.93	5.93	0.95920	.	0.331275	0.31624	N	0.007325	T	0.75384	0.3842	N	0.08118	0	0.49915	D	0.999834	P;B;B	0.39282	0.666;0.205;0.14	B;B;B	0.36608	0.229;0.107;0.197	T	0.79274	-0.1871	10	0.59425	D	0.04	-6.0122	13.5312	0.61623	0.0:0.9294:0.0:0.0706	.	825;842;847	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	847;842;825;842;825	ENSP00000353582:S847Y;ENSP00000439658:S842Y;ENSP00000439261:S825Y;ENSP00000350432:S842Y;ENSP00000407626:S825Y	ENSP00000350432:S842Y	S	+	2	0	NRP2	206367771	0.915000	0.31059	0.406000	0.26421	0.046000	0.14306	2.831000	0.48144	2.826000	0.97356	0.655000	0.94253	TCT		0.542	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			113	500	1	0	1.07149e-41	1	1.30274e-41	113	500				
ZNF226	7769	broad.mit.edu	37	19	44681488	44681488	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44681488G>T	ENST00000590089.1	+	7	2440	c.2073G>T	c.(2071-2073)agG>agT	p.R691S	ZNF226_ENST00000337433.5_Missense_Mutation_p.R691S|ZNF226_ENST00000454662.2_Missense_Mutation_p.R691S|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	691					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TGCATCAGAGGGTGCACACAG	0.463																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(2071-2073)agG>agT		zinc finger protein 226							110.0	119.0	116.0					19																	44681488		2197	4299	6496	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681488G>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.2073G>T	19.37:g.44681488G>T	ENSP00000465121:p.Arg691Ser					ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.R691S|ZNF226_ENST00000454662.2_Missense_Mutation_p.R691S	p.R691S			Q9NYT6	ZN226_HUMAN			7	2440	+		Prostate(69;0.0352)|all_neural(266;0.202)	691					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.2073G>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890826	0.33348	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.02395	4.31;4.31	3.89	0.538	0.17150	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36002	N	0.002846	T	0.03520	0.0101	M	0.73430	2.235	0.26867	N	0.96782	P	0.36535	0.557	B	0.31016	0.123	T	0.30119	-0.9989	10	0.54805	T	0.06	.	5.8238	0.18542	0.5082:0.0:0.4918:0.0	.	691	Q9NYT6	ZN226_HUMAN	S	691	ENSP00000336719:R691S;ENSP00000393265:R691S	ENSP00000336719:R691S	R	+	3	2	ZNF226	49373328	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.619000	0.02048	0.427000	0.26145	0.655000	0.94253	AGG		0.463	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			15	442	1	0	1.05317e-09	1	1.11087e-09	15	442				
DBNDD2	55861	broad.mit.edu	37	20	44037151	44037151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44037151G>A	ENST00000372720.3	+	2	569	c.338G>A	c.(337-339)cGc>cAc	p.R113H	DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372712.2_Missense_Mutation_p.R15H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_3'UTR|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	113					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCGCCTTCGGGAG	0.547																																						ENST00000372712.2																			0				breast(1)|lung(2)	3						c.(43-45)cGc>cAc		dysbindin (dystrobrevin binding protein 1) domain containing 2							62.0	66.0	65.0					20																	44037151		1873	4102	5975	SO:0001583	missense	55861				negative regulation of protein kinase activity	cytoplasm	protein binding	g.chr20:44037151G>A	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.338G>A	20.37:g.44037151G>A	ENSP00000361805:p.Arg113His					DBNDD2_ENST00000372720.3_Missense_Mutation_p.R113H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H	p.R15H			Q9BQY9	DBND2_HUMAN			2	625	+		Myeloproliferative disorder(115;0.0122)	113					Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	c.44G>A	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.868796|4.868796	0.91587|0.91587	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000443296|ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710	.|T;T;T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.61|5.61	4.65|4.65	0.58169|0.58169	.|.	.|0.142639	.|0.45606	.|D	.|0.000356	T|T	0.26159|0.26159	0.0638|0.0638	M|M	0.62723|0.62723	1.935|1.935	0.38404|0.38404	D|D	0.945735|0.945735	.|B;B	.|0.31351	.|0.155;0.32	.|B;B	.|0.20955	.|0.022;0.032	T|T	0.19679|0.19679	-1.0298|-1.0298	5|10	.|0.54805	.|T	.|0.06	.|.	7.207|7.207	0.25913|0.25913	0.1654:0.0:0.8346:0.0|0.1654:0.0:0.8346:0.0	.|.	.|15;113	.|Q5QPV4;Q9BQY9	.|.;DBND2_HUMAN	T|H	75|15;15;15;113;15;15;15;117	.|ENSP00000361808:R15H;ENSP00000361807:R15H;ENSP00000349822:R15H;ENSP00000361805:R113H;ENSP00000361802:R15H;ENSP00000354250:R15H;ENSP00000361797:R15H;ENSP00000361795:R117H	.|ENSP00000349822:R15H	A|R	+|+	1|2	0|0	DBNDD2|DBNDD2	43470565|43470565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	5.342000|5.342000	0.65970|0.65970	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478		110	471	0	0	0	1	0	110	471				
LARS2	23395	broad.mit.edu	37	3	45459025	45459025	+	Missense_Mutation	SNP	G	G	A	rs150836537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45459025G>A	ENST00000415258.1	+	4	556	c.415G>A	c.(415-417)Gca>Aca	p.A139T	LARS2_ENST00000414984.1_Missense_Mutation_p.A96T|LARS2_ENST00000265537.3_Missense_Mutation_p.A139T			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	139					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGAAAATGCCGCAGTCGAGAG	0.398																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(415-417)Gca>Aca		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)	G	THR/ALA	0,4406		0,0,2203	128.0	121.0	123.0		415	5.7	0.2	3	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARS2	NM_015340.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	139/904	45459025	1,13005	2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45459025G>A	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.415G>A	3.37:g.45459025G>A	ENSP00000408576:p.Ala139Thr					LARS2_ENST00000265537.3_Missense_Mutation_p.A139T|LARS2_ENST00000414984.1_Missense_Mutation_p.A96T	p.A139T			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	4	556	+			139						Missense_Mutation	SNP	ENST00000415258.1	37	c.415G>A	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627418	0.66901	0.0	1.16E-4	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984;ENST00000431023	D;D;D;T	0.81908	-1.55;-1.55;-1.55;1.61	5.74	5.74	0.90152	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.053586	0.64402	D	0.000001	D	0.94013	0.8082	H	0.97918	4.105	0.58432	D	0.999991	D;D	0.64830	0.994;0.994	P;P	0.60789	0.879;0.879	D	0.95830	0.8857	10	0.87932	D	0	-25.8708	16.8525	0.85998	0.0:0.0:1.0:0.0	.	96;139	E9PHM2;Q15031	.;SYLM_HUMAN	T	139;139;96;96	ENSP00000265537:A139T;ENSP00000408576:A139T;ENSP00000412893:A96T;ENSP00000406611:A96T	ENSP00000265537:A139T	A	+	1	0	LARS2	45434029	1.000000	0.71417	0.150000	0.22450	0.247000	0.25773	6.910000	0.75741	2.715000	0.92844	0.655000	0.94253	GCA		0.398	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		102	291	0	0	0	1	0	102	291				
NID1	4811	broad.mit.edu	37	1	236141260	236141260	+	Silent	SNP	G	G	A	rs373795201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236141260G>A	ENST00000264187.6	-	20	3733	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	NID1_ENST00000366595.3_Silent_p.G1084G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1217	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.G1217G(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGGTGCAGCCGCCATTGTTCA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		16734	0.0		0.0	False		,,,				2504	0.001					ENST00000264187.6																			1	Substitution - coding silent(1)	p.G1217G(1)	large_intestine(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(3649-3651)ggC>ggT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)	G		0,4406		0,0,2203	76.0	75.0	75.0		3651	-11.4	0.2	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NID1	NM_002508.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1217/1248	236141260	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236141260G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3651C>T	1.37:g.236141260G>A						NID1_ENST00000366595.3_Silent_p.G1084G	p.G1217G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		20	3733	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	1217			EGF-like 6.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.3651C>T	CCDS1608.1																																																																																				0.512	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		37	331	0	0	0	1	0	37	331				
NUTM1	256646	broad.mit.edu	37	15	34648046	34648046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34648046G>A	ENST00000333756.4	+	7	1908	c.1753G>A	c.(1753-1755)Ggg>Agg	p.G585R	NUTM1_ENST00000537011.1_Missense_Mutation_p.G613R|NUTM1_ENST00000438749.3_Missense_Mutation_p.G603R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	585						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGAGAGGAGAGGGTCTGGGAA	0.597																																						ENST00000537011.1																			0											c.(1837-1839)Ggg>Agg		NUT midline carcinoma, family member 1							27.0	30.0	29.0					15																	34648046		2200	4292	6492	SO:0001583	missense	256646							g.chr15:34648046G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1753G>A	15.37:g.34648046G>A	ENSP00000329448:p.Gly585Arg					NUTM1_ENST00000333756.4_Missense_Mutation_p.G585R|NUTM1_ENST00000438749.3_Missense_Mutation_p.G603R	p.G613R							8	2219	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1837G>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980969	0.74474	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.11385	2.79;2.78;2.79	5.08	3.13	0.36017	.	0.265541	0.26590	N	0.023538	T	0.22166	0.0534	L	0.55481	1.735	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.92;0.964;0.92	T	0.03212	-1.1060	10	0.46703	T	0.11	.	7.3726	0.26810	0.0933:0.1681:0.7386:0.0	.	603;613;585	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	R	613;603;585	ENSP00000444896:G613R;ENSP00000407031:G603R;ENSP00000329448:G585R	ENSP00000329448:G585R	G	+	1	0	C15orf55	32435338	0.960000	0.32886	0.002000	0.10522	0.626000	0.37791	1.990000	0.40717	0.489000	0.27749	0.655000	0.94253	GGG		0.597	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		44	234	0	0	0	1	0	44	234				
ABTB2	25841	broad.mit.edu	37	11	34194836	34194836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34194836C>T	ENST00000435224.2	-	4	1687	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P235P	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	421					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCATGAGGGGCGGCAGCAGCA	0.706																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1261-1263)ccG>ccA		ankyrin repeat and BTB (POZ) domain containing 2							14.0	14.0	14.0					11																	34194836		2197	4297	6494	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34194836C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1263G>A	11.37:g.34194836C>T						ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P235P	p.P421P	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			4	1687	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	235					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.1263G>A	CCDS7890.2																																																																																				0.706	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		7	76	0	0	0	1	0	7	76				
OR8H3	390152	broad.mit.edu	37	11	55890321	55890321	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890321T>C	ENST00000313472.3	+	1	473	c.473T>C	c.(472-474)gTc>gCc	p.V158A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GACTCCTTTGTCAATGTGGTT	0.448																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(472-474)gTc>gCc		olfactory receptor, family 8, subfamily H, member 3							225.0	199.0	208.0					11																	55890321		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890321T>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.473T>C	11.37:g.55890321T>C	ENSP00000323928:p.Val158Ala						p.V158A	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	473	+	Esophageal squamous(21;0.00693)		158					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.473T>C	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	2.812	-0.246693	0.05867	.	.	ENSG00000181761	ENST00000313472	T	0.37915	1.17	3.62	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	1.117260	0.06780	N	0.785094	T	0.27098	0.0664	L	0.35542	1.07	0.09310	N	1	B	0.20052	0.041	B	0.26310	0.068	T	0.33189	-0.9878	10	0.22109	T	0.4	.	6.0785	0.19928	0.0:0.3827:0.0:0.6173	.	158	Q8N146	OR8H3_HUMAN	A	158	ENSP00000323928:V158A	ENSP00000323928:V158A	V	+	2	0	OR8H3	55646897	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.117000	0.15583	0.401000	0.25424	0.145000	0.16022	GTC		0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		87	855	0	0	0	1	0	87	855				
PIGS	94005	broad.mit.edu	37	17	26890850	26890850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26890850G>A	ENST00000308360.7	-	4	737	c.362C>T	c.(361-363)tCg>tTg	p.S121L	PIGS_ENST00000395346.2_Missense_Mutation_p.S113L|PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000543734.1_Missense_Mutation_p.S60L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	121					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CACACTGCCCGATGACAGGGC	0.483																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(361-363)tCg>tTg		phosphatidylinositol glycan anchor biosynthesis, class S							200.0	186.0	190.0					17																	26890850		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890850G>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.362C>T	17.37:g.26890850G>A	ENSP00000309430:p.Ser121Leu					PIGS_ENST00000543734.1_Missense_Mutation_p.S60L|PIGS_ENST00000395346.2_Missense_Mutation_p.S113L	p.S121L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			4	737	-	Lung NSC(42;0.00431)		121					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.362C>T	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	2.706	-0.269863	0.05716	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.41758	0.99;0.99;0.99	5.21	2.69	0.31865	.	0.519639	0.20737	N	0.086620	T	0.10895	0.0266	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20240	-1.0281	10	0.24483	T	0.36	-6.2214	3.9546	0.09383	0.6491:0.0:0.1999:0.151	.	121;113	Q96S52;Q96S52-2	PIGS_HUMAN;.	L	113;121;60	ENSP00000378755:S113L;ENSP00000309430:S121L;ENSP00000438447:S60L	ENSP00000309430:S121L	S	-	2	0	PIGS	23914977	0.000000	0.05858	0.026000	0.17262	0.181000	0.23173	0.591000	0.23969	0.732000	0.32470	-0.345000	0.07892	TCG		0.483	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		157	681	0	0	0	1	0	157	681				
ESRP2	80004	broad.mit.edu	37	16	68264366	68264366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264366C>T	ENST00000565858.1	-	14	2106	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.A664T|RP11-96D1.10_ENST00000571975.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	674					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGGACCAAGGCTCCTGACTGG	0.632																																						ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(1990-1992)Gcc>Acc		epithelial splicing regulatory protein 2							91.0	92.0	92.0					16																	68264366		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68264366C>T	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2020G>A	16.37:g.68264366C>T	ENSP00000454554:p.Ala674Thr					ESRP2_ENST00000565858.1_Missense_Mutation_p.A674T	p.A664T			Q9H6T0	ESRP2_HUMAN			14	2528	-			674					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1990G>A		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694056	0.68386	.	.	ENSG00000103067	ENST00000473183	T	0.11277	2.79	5.93	4.98	0.66077	.	0.101915	0.64402	D	0.000002	T	0.12390	0.0301	L	0.39397	1.21	0.80722	D	1	B;B	0.31599	0.33;0.184	B;B	0.37833	0.132;0.259	T	0.11717	-1.0576	10	0.15499	T	0.54	-11.6059	15.2254	0.73348	0.0:0.9327:0.0:0.0673	.	674;664	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	T	664	ENSP00000418748:A664T	ENSP00000418748:A664T	A	-	1	0	ESRP2	66821867	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.900000	0.63252	1.517000	0.48917	0.561000	0.74099	GCC		0.632	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		98	436	0	0	0	1	0	98	436				
LARP1	23367	broad.mit.edu	37	5	154179551	154179551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154179551G>A	ENST00000336314.4	+	10	1458	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	555	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.E555D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGATTCTGAGAACTGGATTG	0.582																																						ENST00000336314.4																			1	Substitution - Missense(1)	p.E555D(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1432-1434)gaG>gaA		La ribonucleoprotein domain family, member 1							64.0	60.0	61.0					5																	154179551		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154179551G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1434G>A	5.37:g.154179551G>A							p.E478E	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		10	1458	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	555			HTH La-type RNA-binding.		O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.1434G>A	CCDS4328.1																																																																																				0.582	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		56	220	0	0	0	1	0	56	220				
WDR72	256764	broad.mit.edu	37	15	53889435	53889435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53889435C>T	ENST00000396328.1	-	18	3228	c.2989G>A	c.(2989-2991)Gtt>Att	p.V997I	WDR72_ENST00000360509.5_Missense_Mutation_p.V997I|WDR72_ENST00000557913.1_Missense_Mutation_p.V994I|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	997										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTTGTTGAACTTCCGCCAAG	0.383																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2989-2991)Gtt>Att		WD repeat domain 72							219.0	202.0	208.0					15																	53889435		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53889435C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2989G>A	15.37:g.53889435C>T	ENSP00000379619:p.Val997Ile					WDR72_ENST00000360509.5_Missense_Mutation_p.V997I|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I|WDR72_ENST00000557913.1_Missense_Mutation_p.V994I	p.V997I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3228	-			997					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2989G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909339	0.72868	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.44881	0.91;0.91	6.04	5.13	0.70059	.	0.000000	0.64402	D	0.000013	T	0.47116	0.1428	M	0.61703	1.905	0.28436	N	0.917058	D	0.53312	0.959	P	0.47744	0.556	T	0.49303	-0.8954	10	0.42905	T	0.14	.	12.571	0.56337	0.0:0.9229:0.0:0.0771	.	997	Q3MJ13	WDR72_HUMAN	I	997	ENSP00000379619:V997I;ENSP00000353699:V997I	ENSP00000353699:V997I	V	-	1	0	WDR72	51676727	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.488000	0.45276	1.568000	0.49683	0.563000	0.77884	GTT		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		36	920	0	0	0	1	0	36	920				
SPRR2A	6700	broad.mit.edu	37	1	153029119	153029119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153029119C>A	ENST00000392653.2	-	2	178	c.93G>T	c.(91-93)aaG>aaT	p.K31N		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	31	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCAGGGCACTTCGGGGGTG	0.622																																						ENST00000392653.2																			0				large_intestine(2)|ovary(1)	3						c.(91-93)aaG>aaT		small proline-rich protein 2A							54.0	52.0	53.0					1																	153029119		2202	4278	6480	SO:0001583	missense	6700				keratinization	cornified envelope|cytoplasm	binding	g.chr1:153029119C>A	X53064	CCDS1034.1	1q21-q22	2008-02-05			ENSG00000241794	ENSG00000241794			11261	protein-coding gene	gene with protein product		182267				8325635	Standard	NM_005988		Approved		uc001fbd.3	P35326	OTTHUMG00000014395	ENST00000392653.2:c.93G>T	1.37:g.153029119C>A	ENSP00000376423:p.Lys31Asn						p.K31N	NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	178	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		31			3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.		B2R4T3|D3DV35|Q5T529	Missense_Mutation	SNP	ENST00000392653.2	37	c.93G>T	CCDS1034.1	.	.	.	.	.	.	.	.	.	.	C	5.037	0.192582	0.09599	.	.	ENSG00000241794	ENST00000392653	T	0.44482	0.92	2.79	-3.06	0.05379	.	0.000000	0.37136	N	0.002230	T	0.14743	0.0356	.	.	.	0.09310	N	1	B	0.24920	0.114	B	0.30855	0.121	T	0.31586	-0.9938	9	0.87932	D	0	.	8.3444	0.32263	0.0:0.7873:0.0:0.2127	.	31	P35326	SPR2A_HUMAN	N	31	ENSP00000376423:K31N	ENSP00000376423:K31N	K	-	3	2	SPRR2A	151295743	0.005000	0.15991	0.009000	0.14445	0.119000	0.20118	-1.132000	0.03235	-0.916000	0.03818	-0.498000	0.04607	AAG		0.622	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	NM_005988		142	447	1	0	6.95259e-96	1	8.93585e-96	142	447				
HDHD2	84064	broad.mit.edu	37	18	44662797	44662797	+	Missense_Mutation	SNP	C	C	T	rs374468528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44662797C>T	ENST00000300605.6	-	2	166	c.14G>A	c.(13-15)cGt>cAt	p.R5H	HDHD2_ENST00000587841.1_Intron|IER3IP1_ENST00000588705.1_3'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	5						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAATGCACGGCATGCTGC	0.408																																						ENST00000300605.6																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(13-15)cGt>cAt		haloacid dehalogenase-like hydrolase domain containing 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	90.0	96.0		14	4.9	1.0	18		96	0,8600		0,0,4300	no	missense	HDHD2	NM_032124.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	5/260	44662797	1,13005	2203	4300	6503	SO:0001583	missense	84064						hydrolase activity	g.chr18:44662797C>T	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.14G>A	18.37:g.44662797C>T	ENSP00000300605:p.Arg5His					HDHD2_ENST00000587841.1_Intron|IER3IP1_ENST00000588705.1_3'UTR	p.R5H	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN			2	166	-			5					A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	37	c.14G>A	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345040	0.61073	2.27E-4	0.0	ENSG00000167220	ENST00000300605	T	0.32988	1.43	5.76	4.88	0.63580	HAD-like domain (1);	0.652062	0.15970	N	0.235809	T	0.27384	0.0672	L	0.41824	1.3	0.53688	D	0.999979	B	0.29037	0.231	B	0.21151	0.033	T	0.08638	-1.0712	10	0.72032	D	0.01	-0.0751	15.0729	0.72053	0.0:0.931:0.0:0.069	.	5	Q9H0R4	HDHD2_HUMAN	H	5	ENSP00000300605:R5H	ENSP00000300605:R5H	R	-	2	0	HDHD2	42916795	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	4.102000	0.57776	2.720000	0.93068	0.655000	0.94253	CGT		0.408	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		36	206	0	0	0	1	0	36	206				
OBP2A	29991	broad.mit.edu	37	9	138440528	138440528	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138440528G>A	ENST00000539850.1	+	5	414				OBP2A_ENST00000340780.3_Nonsense_Mutation_p.W143*|OBP2A_ENST00000342114.4_Silent_p.L98L|OBP2A_ENST00000371776.1_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A						response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCCCCACCTTGGCTCACCTGG	0.597																																						ENST00000340780.3																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(427-429)tGg>tAg		odorant binding protein 2A							55.0	48.0	50.0					9																	138440528		2203	4300	6503	SO:0001627	intron_variant	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138440528G>A	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.389-26G>A	9.37:g.138440528G>A						OBP2A_ENST00000539850.1_Intron|OBP2A_ENST00000342114.4_Silent_p.L98L|OBP2A_ENST00000371776.1_Intron	p.W143*			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	5	470	+			0					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Nonsense_Mutation	SNP	ENST00000539850.1	37	c.428G>A	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	g	16.87	3.241390	0.58995	.	.	ENSG00000122136	ENST00000340780	.	.	.	2.49	0.0241	0.14140	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	4.4495	0.11614	0.4823:0.0:0.5177:0.0	.	.	.	.	X	143	.	ENSP00000342097:W143X	W	+	2	0	OBP2A	137580349	0.005000	0.15991	0.000000	0.03702	0.535000	0.34838	1.675000	0.37555	0.004000	0.14682	0.480000	0.44947	TGG		0.597	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		30	177	0	0	0	1	0	30	177				
CYP2B6	1555	broad.mit.edu	37	19	41509980	41509980	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509980G>T	ENST00000324071.4	+	2	253	c.246G>T	c.(244-246)gaG>gaT	p.E82D	CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	82					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GTGGAGTAGAGGCCATACGGG	0.587																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(244-246)gaG>gaT		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						82.0	82.0	82.0					19																	41509980		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41509980G>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.246G>T	19.37:g.41509980G>T	ENSP00000324648:p.Glu82Asp					CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D|CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D	p.E82D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	253	+			82					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.246G>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363878	0.24684	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.69175	4.95;-0.38	4.15	-8.3	0.01005	.	0.366856	0.28409	N	0.015458	T	0.28995	0.0720	N	0.04275	-0.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.22521	-1.0214	10	0.15066	T	0.55	.	5.2272	0.15401	0.0931:0.483:0.1419:0.282	.	42;82	B4DWP3;P20813	.;CP2B6_HUMAN	D	82;42	ENSP00000324648:E82D;ENSP00000330650:E42D	ENSP00000324648:E82D	E	+	3	2	CYP2B6	46201820	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-2.960000	0.00673	-3.181000	0.00222	-0.777000	0.03380	GAG		0.587	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		99	486	1	0	4.98035e-58	1	6.24236e-58	99	486				
RABEPK	10244	broad.mit.edu	37	9	127990330	127990330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127990330T>C	ENST00000373538.3	+	6	978	c.668T>C	c.(667-669)aTt>aCt	p.I223T	RABEPK_ENST00000394125.4_Missense_Mutation_p.I223T|RABEPK_ENST00000259460.8_Missense_Mutation_p.I172T|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	223					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTCCACTGCATTGATATAAGT	0.458																																						ENST00000373538.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(667-669)aTt>aCt		Rab9 effector protein with kelch motifs							49.0	49.0	49.0					9																	127990330		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127990330T>C	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.668T>C	9.37:g.127990330T>C	ENSP00000362639:p.Ile223Thr					RABEPK_ENST00000259460.8_Missense_Mutation_p.I172T|RABEPK_ENST00000394125.4_Missense_Mutation_p.I223T|RABEPK_ENST00000394124.4_3'UTR	p.I223T	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN			6	978	+			223					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.668T>C	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035062	0.54896	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.63913	-0.07;-0.07;-0.07	5.13	5.13	0.70059	Kelch-type beta propeller (1);	0.210427	0.48286	D	0.000200	T	0.63570	0.2522	M	0.74881	2.28	0.80722	D	1	B;B;B	0.25609	0.016;0.13;0.016	B;B;B	0.24974	0.012;0.057;0.012	T	0.65055	-0.6261	10	0.54805	T	0.06	-8.861	14.4082	0.67096	0.0:0.0:0.0:1.0	.	223;172;223	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	T	223;172;223	ENSP00000377683:I223T;ENSP00000259460:I172T;ENSP00000362639:I223T	ENSP00000259460:I172T	I	+	2	0	RABEPK	127030151	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.211000	0.77933	2.188000	0.69820	0.514000	0.50259	ATT		0.458	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		12	172	0	0	0	1	0	12	172				
OR6A2	8590	broad.mit.edu	37	11	6816882	6816882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816882C>T	ENST00000332601.3	-	1	246	c.58G>A	c.(58-60)Gct>Act	p.A20T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	20					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCGCAGGAGCAGGGAAGCCC	0.498																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(58-60)Gct>Act		olfactory receptor, family 6, subfamily A, member 2							126.0	98.0	108.0					11																	6816882		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816882C>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.58G>A	11.37:g.6816882C>T	ENSP00000330384:p.Ala20Thr						p.A20T	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	246	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	20					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.58G>A	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.204918	0.06180	.	.	ENSG00000184933	ENST00000332601	T	0.00438	7.42	4.75	3.84	0.44239	.	0.277043	0.24766	N	0.035767	T	0.00178	0.0005	N	0.02334	-0.595	0.30921	N	0.728018	P	0.48764	0.915	P	0.45276	0.475	T	0.45804	-0.9236	10	0.05833	T	0.94	.	7.4668	0.27326	0.0:0.8079:0.0:0.1921	.	20	O95222	OR6A2_HUMAN	T	20	ENSP00000330384:A20T	ENSP00000330384:A20T	A	-	1	0	OR6A2	6773458	0.000000	0.05858	0.980000	0.43619	0.035000	0.12851	0.027000	0.13621	1.368000	0.46115	0.655000	0.94253	GCT		0.498	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		68	316	0	0	0	1	0	68	316				
ABCC6	368	broad.mit.edu	37	16	16251606	16251606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16251606C>T	ENST00000205557.7	-	27	3825	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1266	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCCCGGAACTCGATCTGCCCG	0.627																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(3796-3798)Gag>Aag		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							48.0	42.0	44.0					16																	16251606		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16251606C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3796G>A	16.37:g.16251606C>T	ENSP00000205557:p.Glu1266Lys						p.E1266K	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	27	3825	-			1266			ABC transporter 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3796G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.056895	0.76074	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90955	-2.76	5.09	4.13	0.48395	ABC transporter-like (1);	0.000000	0.47852	U	0.000214	D	0.86079	0.5847	L	0.45352	1.415	0.80722	D	1	D	0.55385	0.971	B	0.39258	0.295	D	0.86918	0.2065	10	0.87932	D	0	.	14.3582	0.66752	0.1485:0.8515:0.0:0.0	.	1266	O95255	MRP6_HUMAN	K	1266;204	ENSP00000205557:E1266K	ENSP00000205557:E1266K	E	-	1	0	ABCC6	16159107	0.399000	0.25287	0.836000	0.33094	0.891000	0.51852	1.188000	0.32102	1.151000	0.42436	0.530000	0.56133	GAG		0.627	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			51	170	0	0	0	1	0	51	170				
SYMPK	8189	broad.mit.edu	37	19	46341750	46341750	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46341750G>T	ENST00000245934.7	-	10	1455	c.1211C>A	c.(1210-1212)cCt>cAt	p.P404H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	404					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGTCAGCAGAGGCTGCAGGAA	0.602																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1210-1212)cCt>cAt		symplekin							69.0	53.0	59.0					19																	46341750		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46341750G>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1211C>A	19.37:g.46341750G>T	ENSP00000245934:p.Pro404His						p.P404H	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	10	1455	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	404					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1211C>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012652	0.75161	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.75	5.75	0.90469	Armadillo-type fold (1);	0.057465	0.64402	D	0.000001	T	0.66157	0.2761	M	0.61703	1.905	0.80722	D	1	P;P	0.51240	0.943;0.612	P;B	0.50617	0.646;0.417	T	0.65809	-0.6078	9	0.45353	T	0.12	.	17.4878	0.87693	0.0:0.0:1.0:0.0	.	419;404	Q4LE61;Q92797	.;SYMPK_HUMAN	H	404	.	ENSP00000245934:P404H	P	-	2	0	SYMPK	51033590	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.615000	0.90920	2.729000	0.93468	0.558000	0.71614	CCT		0.602	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		22	99	1	0	1.55469e-16	1	1.70887e-16	22	99				
PCDHB2	56133	broad.mit.edu	37	5	140475112	140475112	+	Silent	SNP	G	G	A	rs149000816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475112G>A	ENST00000194155.4	+	1	886	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	246					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTTGCAAAGCTGCTCTATG	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15063	0.0		0.0	False		,,,				2504	0.0					ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(736-738)aaG>aaA				G		13,4393	20.2+/-43.8	0,13,2190	57.0	59.0	58.0		738	0.4	0.5	5	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	PCDHB2	NM_018936.2		0,13,6490	AA,AG,GG		0.0,0.2951,0.1		246/799	140475112	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475112G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.738G>A	5.37:g.140475112G>A							p.K246K	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	886	+			246					Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.738G>A	CCDS4244.1																																																																																				0.552	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		47	251	0	0	0	1	0	47	251				
D2HGDH	728294	broad.mit.edu	37	2	242695421	242695421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242695421G>A	ENST00000321264.4	+	9	1507	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D|D2HGDH_ENST00000486953.1_3'UTR|AC114730.7_ENST00000417267.1_RNA	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	433					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GTGGGCTATGGCCACCTTGGT	0.701																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1297-1299)gGc>gAc		D-2-hydroxyglutarate dehydrogenase							41.0	37.0	38.0					2																	242695421		2202	4294	6496	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242695421G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1298G>A	2.37:g.242695421G>A	ENSP00000315351:p.Gly433Asp					D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D|D2HGDH_ENST00000486953.1_3'UTR	p.G433D	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	9	1507	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	433					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1298G>A	CCDS33426.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.8|24.8|24.8	4.572822|4.572822|4.572822	0.86542|0.86542|0.86542	.|.|.	.|.|.	ENSG00000180902|ENSG00000180902|ENSG00000180902	ENST00000445308|ENST00000321264;ENST00000403782;ENST00000542211|ENST00000432449	.|D;D|.	.|0.86694|.	.|-2.16;-2.16|.	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	.|0.125811|.	.|0.53938|.	.|D|.	.|0.000052|.	D|D|.	0.90345|0.90345|.	0.6979|0.6979|.	H|H|H	0.97732|0.97732|0.97732	4.065|4.065|4.065	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	D|D|.	0.93703|0.93703|.	0.7017|0.7017|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	0.004|0.004|0.004	18.9757|18.9757|18.9757	0.92735|0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|433|.	.|Q8N465|.	.|D2HDH_HUMAN|.	T|D|X	232|433;299;53|186	.|ENSP00000315351:G433D;ENSP00000384723:G299D|.	.|ENSP00000315351:G433D|.	A|G|W	+|+|+	1|2|3	0|0|0	D2HGDH|D2HGDH|D2HGDH	242344094|242344094|242344094	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.464000|0.464000|0.464000	0.32679|0.32679|0.32679	8.597000|8.597000|8.597000	0.90847|0.90847|0.90847	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GCC|GGC|TGG		0.701	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		72	333	0	0	0	1	0	72	333				
SLC24A4	123041	broad.mit.edu	37	14	92909751	92909751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92909751G>A	ENST00000532405.1	+	7	816	c.590G>A	c.(589-591)cGt>cAt	p.R197H	SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	197					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CAGGTGGTCCGTCTGACGTGG	0.657																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(589-591)cGt>cAt		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							149.0	106.0	120.0					14																	92909751		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92909751G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.590G>A	14.37:g.92909751G>A	ENSP00000431840:p.Arg197His					SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H	p.R197H			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	7	816	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	197					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.590G>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	6.791	0.514922	0.12944	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.89	1.46	0.22682	Sodium/calcium exchanger membrane region (1);	0.573016	0.19313	N	0.117344	T	0.38214	0.1032	N	0.12611	0.24	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.002;0.002;0.005	T	0.18681	-1.0329	10	0.28530	T	0.3	.	7.6125	0.28139	0.175:0.1392:0.6858:0.0	.	197;133;197	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	H	133;197;197;180;180	ENSP00000376948:R133H;ENSP00000433302:R197H;ENSP00000431840:R197H;ENSP00000298877:R180H;ENSP00000337789:R180H	ENSP00000298877:R180H	R	+	2	0	SLC24A4	91979504	0.837000	0.29446	0.110000	0.21437	0.929000	0.56500	1.395000	0.34520	0.459000	0.27016	0.462000	0.41574	CGT		0.657	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		48	200	0	0	0	1	0	48	200				
KL	9365	broad.mit.edu	37	13	33635273	33635273	+	Missense_Mutation	SNP	C	C	T	rs141695559	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33635273C>T	ENST00000380099.3	+	4	2065	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	686	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTTTGGATAACGATGAATGAG	0.527																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2056-2058)aCg>aTg		klotho		C	MET/THR	0,4406		0,0,2203	66.0	59.0	61.0		2057	5.8	1.0	13	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	missense	KL	NM_004795.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	686/1013	33635273	2,13004	2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635273C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2057C>T	13.37:g.33635273C>T	ENSP00000369442:p.Thr686Met					KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	p.T686M	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2065	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	686			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2057C>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862148	0.71949	0.0	2.33E-4	ENSG00000133116	ENST00000380099	T	0.58060	0.36	5.81	5.81	0.92471	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90088	0.4175	10	0.87932	D	0	-26.5349	20.0763	0.97746	0.0:1.0:0.0:0.0	.	686	Q9UEF7	KLOT_HUMAN	M	686	ENSP00000369442:T686M	ENSP00000369442:T686M	T	+	2	0	KL	32533273	1.000000	0.71417	0.964000	0.40570	0.410000	0.31052	7.686000	0.84128	2.756000	0.94617	0.655000	0.94253	ACG		0.527	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			49	243	0	0	0	1	0	49	243				
PHLDB2	90102	broad.mit.edu	37	3	111603011	111603011	+	Silent	SNP	C	C	T	rs147548065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603011C>T	ENST00000431670.2	+	2	498	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PHLDB2_ENST00000412622.1_Silent_p.N29N|PHLDB2_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000393925.3_Silent_p.N29N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	29						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGTTGAGAACGATTCCCAAA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		19829	0.0		0.001	False		,,,				2504	0.0					ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(85-87)aaC>aaT		pleckstrin homology-like domain, family B, member 2							155.0	157.0	156.0					3																	111603011		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603011C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.87C>T	3.37:g.111603011C>T						PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000393925.3_Silent_p.N29N|PHLDB2_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000412622.1_Silent_p.N29N	p.N29N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	498	+			29					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.87C>T	CCDS46886.1																																																																																				0.413	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		128	700	0	0	0	1	0	128	700				
PDE8B	8622	broad.mit.edu	37	5	76700561	76700561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76700561A>C	ENST00000264917.5	+	12	1272	c.1227A>C	c.(1225-1227)agA>agC	p.R409S	PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S|PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	409					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ATTCATTCAGATATAAGAACA	0.358																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1225-1227)agA>agC		phosphodiesterase 8B							88.0	88.0	88.0					5																	76700561		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76700561A>C	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1227A>C	5.37:g.76700561A>C	ENSP00000264917:p.Arg409Ser					PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S|PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S	p.R409S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	12	1272	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	409					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1227A>C	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170914	0.38315	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.70749	-0.46;-0.51;-0.46;-0.46;-0.4	4.75	3.5	0.40072	.	0.168621	0.48286	N	0.000194	T	0.53818	0.1820	L	0.33485	1.01	0.80722	D	1	B;B;P;B;B	0.35139	0.214;0.337;0.486;0.337;0.228	B;B;B;B;B	0.35727	0.098;0.149;0.209;0.149;0.071	T	0.47611	-0.9104	10	0.20519	T	0.43	.	6.6596	0.23007	0.7848:0.0:0.078:0.1372	.	312;362;409;389;409	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	S	362;312;409;389;409	ENSP00000345446:R362S;ENSP00000330428:R312S;ENSP00000264917:R409S;ENSP00000345646:R389S;ENSP00000331336:R409S	ENSP00000264917:R409S	R	+	3	2	PDE8B	76736317	0.018000	0.18449	1.000000	0.80357	0.980000	0.70556	0.256000	0.18351	1.898000	0.54952	0.460000	0.39030	AGA		0.358	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		41	201	0	0	0	1	0	41	201				
DPCR1	135656	broad.mit.edu	37	6	30919785	30919785	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30919785A>C	ENST00000462446.1	+	2	3572	c.3544A>C	c.(3544-3546)Aga>Cga	p.R1182R	DPCR1_ENST00000304311.2_Silent_p.R24R|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	314						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAACCACAAGAACCCCAGA	0.468																																						ENST00000462446.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3544-3546)Aga>Cga		diffuse panbronchiolitis critical region 1							161.0	161.0	161.0					6																	30919785		2203	4300	6503	SO:0001819	synonymous_variant	135656					integral to membrane		g.chr6:30919785A>C	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3544A>C	6.37:g.30919785A>C						DPCR1_ENST00000304311.2_Silent_p.R24R|HCG21_ENST00000419481.1_RNA	p.R1182R			Q3MIW9	DPCR1_HUMAN			2	3572	+			313					C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	c.3544A>C	CCDS4692.2																																																																																				0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		86	269	0	0	0	1	0	86	269				
ETV4	2118	broad.mit.edu	37	17	41607026	41607026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41607026C>T	ENST00000319349.5	-	11	1272	c.974G>A	c.(973-975)gGg>gAg	p.G325E	ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000545089.1_Missense_Mutation_p.G271E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000591713.1_Missense_Mutation_p.G325E|ETV4_ENST00000545954.1_Missense_Mutation_p.G286E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	325					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TGCACCGACCCCTTCCTGCTT	0.597			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(973-975)gGg>gAg		ets variant 4							54.0	61.0	59.0					17																	41607026		2203	4300	6503	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41607026C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.974G>A	17.37:g.41607026C>T	ENSP00000321835:p.Gly325Glu					ETV4_ENST00000545954.1_Missense_Mutation_p.G286E|ETV4_ENST00000545089.1_Missense_Mutation_p.G271E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000591713.1_Missense_Mutation_p.G325E	p.G325E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	11	1272	-		Breast(137;0.00908)	325					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.974G>A	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429589	0.62844	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.08282	3.12;3.12;3.11;3.11;3.11	6.04	6.04	0.98038	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.094180	0.64402	D	0.000001	T	0.24661	0.0598	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.992;0.984;1.0	D;P;D	0.97110	0.944;0.825;1.0	T	0.00020	-1.2356	10	0.44086	T	0.13	.	15.1851	0.72993	0.1402:0.8598:0.0:0.0	.	271;286;325	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	E	325;325;286;286;271	ENSP00000321835:G325E;ENSP00000377273:G325E;ENSP00000443846:G286E;ENSP00000440023:G286E;ENSP00000441749:G271E	ENSP00000321835:G325E	G	-	2	0	ETV4	38962552	0.980000	0.34600	0.993000	0.49108	0.233000	0.25261	2.540000	0.45727	2.873000	0.98535	0.561000	0.74099	GGG		0.597	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		21	611	0	0	0	1	0	21	611				
CEP112	201134	broad.mit.edu	37	17	64092721	64092721	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64092721C>A	ENST00000392769.2	-	7	890	c.672G>T	c.(670-672)aaG>aaT	p.K224N	CEP112_ENST00000535342.2_Missense_Mutation_p.K224N|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	224					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTGGGATAGGCTTCTGTCTCA	0.254																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(670-672)aaG>aaT		centrosomal protein 112kDa							33.0	35.0	34.0					17																	64092721		2201	4298	6499	SO:0001583	missense	201134					centrosome		g.chr17:64092721C>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.672G>T	17.37:g.64092721C>A	ENSP00000376522:p.Lys224Asn					CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.K224N	p.K224N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			7	890	-			224					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.672G>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	8.875	0.950258	0.18431	.	.	ENSG00000154240	ENST00000535342;ENST00000392769	T;T	0.50277	0.75;0.75	5.87	2.72	0.32119	.	0.238471	0.33875	N	0.004461	T	0.37625	0.1010	L	0.36672	1.1	0.80722	D	1	P	0.39250	0.665	B	0.41088	0.347	T	0.12268	-1.0554	10	0.41790	T	0.15	-13.8133	8.9568	0.35823	0.0:0.7013:0.0:0.2987	.	224	Q8N8E3	CE112_HUMAN	N	224	ENSP00000442784:K224N;ENSP00000376522:K224N	ENSP00000376522:K224N	K	-	3	2	CEP112	61523183	1.000000	0.71417	0.999000	0.59377	0.488000	0.33401	0.495000	0.22483	0.803000	0.34113	0.591000	0.81541	AAG		0.254	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		52	203	1	0	2.22609e-26	1	2.56449e-26	52	203				
HACE1	57531	broad.mit.edu	37	6	105198220	105198220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198220T>G	ENST00000262903.4	-	20	2615	c.2339A>C	c.(2338-2340)gAa>gCa	p.E780A	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.E565A	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	780	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CCTTACCAATTCATATTCATC	0.343																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2338-2340)gAa>gCa		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							76.0	73.0	74.0					6																	105198220		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198220T>G	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2339A>C	6.37:g.105198220T>G	ENSP00000262903:p.Glu780Ala					HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.E565A	p.E780A	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2615	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	780			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2339A>C	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443659	0.83993	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.65916	-0.18;-0.18	5.3	5.3	0.74995	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.89840	3.065	0.34930	D	0.749238	D;D;D;D	0.89917	1.0;1.0;0.979;0.974	D;D;D;D	0.97110	1.0;0.999;0.973;0.953	D	0.85522	0.1204	10	0.87932	D	0	.	15.227	0.73359	0.0:0.0:0.0:1.0	.	565;269;780;433	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	A	780;565	ENSP00000262903:E780A;ENSP00000358121:E565A	ENSP00000262903:E780A	E	-	2	0	HACE1	105304913	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.565000	0.82337	2.000000	0.58554	0.460000	0.39030	GAA		0.343	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		31	105	0	0	0	1	0	31	105				
AP3B2	8120	broad.mit.edu	37	15	83335598	83335598	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83335598G>T	ENST00000261722.3	-	15	1960	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I|AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	585					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGACGATGAGCTGCCGGGTG	0.587																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1753-1755)Ctc>Atc		adaptor-related protein complex 3, beta 2 subunit							61.0	68.0	66.0					15																	83335598		1955	4134	6089	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83335598G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1753C>A	15.37:g.83335598G>T	ENSP00000261722:p.Leu585Ile					AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I	p.L585I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		15	1960	-			585					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1753C>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662158	0.88251	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.28895	1.59;1.59;1.59	5.84	4.92	0.64577	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.52266	1.64	0.80722	D	1	D;P;P	0.56968	0.978;0.756;0.859	P;P;P	0.53006	0.715;0.456;0.679	T	0.15263	-1.0443	10	0.35671	T	0.21	-24.1255	15.1021	0.72288	0.068:0.0:0.932:0.0	.	553;585;585	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	585;553;585	ENSP00000261722:L585I;ENSP00000438721:L553I;ENSP00000440984:L585I	ENSP00000261722:L585I	L	-	1	0	AP3B2	81132653	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.838000	0.99474	1.475000	0.48197	0.655000	0.94253	CTC		0.587	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			74	372	1	0	3.78398e-24	1	4.31794e-24	74	372				
FAM53A	152877	broad.mit.edu	37	4	1657352	1657352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1657352C>T	ENST00000308132.6	-	4	427	c.235G>A	c.(235-237)Gct>Act	p.A79T	FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T|FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	79						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ATGGTGTGAGCGGCAGCAGAC	0.667																																						ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(235-237)Gct>Act		family with sequence similarity 53, member A							7.0	7.0	7.0					4																	1657352		1854	3738	5592	SO:0001583	missense	152877					nucleus		g.chr4:1657352C>T	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.235G>A	4.37:g.1657352C>T	ENSP00000310057:p.Ala79Thr					FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T|FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T	p.A79T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	427	-		all_epithelial(65;0.206)|Breast(71;0.212)	79					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.235G>A	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278835	0.40294	.	.	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884;ENST00000463238	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	2.87	0.913	0.19354	.	1.057190	0.07555	U	0.916117	T	0.36635	0.0974	L	0.46157	1.445	0.09310	N	1	P;D	0.58268	0.951;0.982	B;P	0.44518	0.32;0.452	T	0.20672	-1.0268	10	0.46703	T	0.11	-6.3993	5.2949	0.15747	0.5219:0.3708:0.0:0.1073	.	79;79	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	T	79	ENSP00000310057:A79T;ENSP00000419044:A79T;ENSP00000418243:A79T;ENSP00000426260:A79T;ENSP00000417615:A79T	ENSP00000310057:A79T	A	-	1	0	FAM53A	1627149	0.060000	0.20803	0.001000	0.08648	0.003000	0.03518	0.705000	0.25675	-0.275000	0.09219	-0.490000	0.04691	GCT		0.667	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		19	61	0	0	0	1	0	19	61				
PFKM	5213	broad.mit.edu	37	12	48538862	48538862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48538862G>A	ENST00000312352.7	+	21	2080	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	PFKM_ENST00000359794.5_Missense_Mutation_p.A681T|PFKM_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000340802.6_Missense_Mutation_p.A752T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	681	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAAGATGGGCGCCAAGGCTAT	0.483																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2254-2256)Gcc>Acc		phosphofructokinase, muscle							110.0	104.0	106.0					12																	48538862		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48538862G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2041G>A	12.37:g.48538862G>A	ENSP00000309438:p.Ala681Thr					PFKM_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T|PFKM_ENST00000359794.5_Missense_Mutation_p.A681T|PFKM_ENST00000312352.7_Missense_Mutation_p.A681T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T	p.A752T	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			23	2478	+			681					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.2254G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665671	0.88251	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.05	5.05	0.67936	Phosphofructokinase domain (2);	0.109437	0.64402	D	0.000008	D	0.84575	0.5502	M	0.79926	2.475	0.80722	D	1	P;P;D	0.60160	0.556;0.849;0.987	B;B;P	0.47941	0.187;0.375;0.562	D	0.83886	0.0282	10	0.30078	T	0.28	-19.231	18.5901	0.91208	0.0:0.0:1.0:0.0	.	650;681;752	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	T	752;681;650;650;681;681	ENSP00000345771:A752T;ENSP00000352842:A681T;ENSP00000378656:A650T;ENSP00000448177:A650T;ENSP00000449426:A681T;ENSP00000309438:A681T	ENSP00000309438:A681T	A	+	1	0	PFKM	46825129	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	5.542000	0.67218	2.793000	0.96121	0.655000	0.94253	GCC		0.483	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		54	323	0	0	0	1	0	54	323				
SLC25A17	10478	broad.mit.edu	37	22	41166939	41166939	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41166939G>T	ENST00000435456.2	-	9	956	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	SLC25A17_ENST00000402844.3_Missense_Mutation_p.L193M|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	275	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTGTCTGCAGCAGTTTGGCT	0.468																																						ENST00000402844.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(577-579)Ctg>Atg		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							213.0	210.0	211.0					22																	41166939		2203	4300	6503	SO:0001583	missense	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41166939G>T	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.823C>A	22.37:g.41166939G>T	ENSP00000390722:p.Leu275Met					SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000435456.2_Missense_Mutation_p.L275M|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M	p.L193M			O43808	PM34_HUMAN			5	1557	-			275					A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	c.577C>A	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225570	0.79576	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.38	4.37	0.52481	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.97	D;D;D	0.74023	0.982;0.926;0.953	D	0.87229	0.2259	10	0.44086	T	0.13	-8.0327	10.5191	0.44907	0.1481:0.0:0.8519:0.0	.	202;238;275	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	M	275;193;238;202	ENSP00000390722:L275M;ENSP00000385303:L193M;ENSP00000438355:L238M;ENSP00000446471:L202M	ENSP00000385303:L193M	L	-	1	2	SLC25A17	39496885	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.771000	0.74996	1.421000	0.47157	0.655000	0.94253	CTG		0.468	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		182	915	1	0	1.95521e-66	1	2.4743e-66	182	915				
NAGLU	4669	broad.mit.edu	37	17	40696083	40696083	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40696083G>T	ENST00000225927.2	+	6	2160	c.2059G>T	c.(2059-2061)Gcc>Tcc	p.A687S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	687					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGACAGTGTGGCCCAGGGCAT	0.587																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(2059-2061)Gcc>Tcc		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						46.0	43.0	44.0					17																	40696083		2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40696083G>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.2059G>T	17.37:g.40696083G>T	ENSP00000225927:p.Ala687Ser					RP11-400F19.8_ENST00000585572.1_RNA	p.A687S	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2160	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	687						Missense_Mutation	SNP	ENST00000225927.2	37	c.2059G>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	1.449	-0.565416	0.03939	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98585	-5.01	5.03	4.07	0.47477	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.641663	0.15989	N	0.234907	D	0.93314	0.7869	N	0.22421	0.69	0.23546	N	0.997445	P	0.34837	0.472	B	0.31946	0.138	D	0.86859	0.2028	10	0.09338	T	0.73	-17.5316	7.2747	0.26277	0.2614:0.0:0.7386:0.0	.	687	P54802	ANAG_HUMAN	S	687;363	ENSP00000225927:A687S	ENSP00000225927:A687S	A	+	1	0	NAGLU	37949609	0.881000	0.30235	0.838000	0.33150	0.289000	0.27227	1.467000	0.35321	1.274000	0.44362	0.555000	0.69702	GCC		0.587	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		35	97	1	0	6.02846e-25	1	6.90604e-25	35	97				
LAMA5	3911	broad.mit.edu	37	20	60913186	60913186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60913186C>A	ENST00000252999.3	-	14	1843	c.1777G>T	c.(1777-1779)Gga>Tga	p.G593*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	593	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCAAGGTTCCTGCAGGGCTG	0.672																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1777-1779)Gga>Tga		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						24.0	25.0	25.0					20																	60913186		2188	4291	6479	SO:0001587	stop_gained	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60913186C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1777G>T	20.37:g.60913186C>A	ENSP00000252999:p.Gly593*						p.G593*	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		14	1843	-	Breast(26;1.57e-08)		593			Laminin EGF-like 6.		Q8TDF8|Q8WZA7|Q9H1P1	Nonsense_Mutation	SNP	ENST00000252999.3	37	c.1777G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406667	0.97542	.	.	ENSG00000130702	ENST00000252999	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7301	0.57193	0.0:0.9138:0.0:0.0862	.	.	.	.	X	593	.	ENSP00000252999:G593X	G	-	1	0	LAMA5	60346581	1.000000	0.71417	0.933000	0.37362	0.047000	0.14425	6.650000	0.74368	2.456000	0.83038	0.585000	0.79938	GGA		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		19	64	1	0	1.15919e-05	1	1.1882e-05	19	64				
ACP5	54	broad.mit.edu	37	19	11686037	11686037	+	Missense_Mutation	SNP	C	C	T	rs146196342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11686037C>T	ENST00000592828.1	-	7	1168	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	ACP5_ENST00000433365.2_Missense_Mutation_p.V256M|ACP5_ENST00000412435.2_Missense_Mutation_p.V256M|ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ACP5_ENST00000590420.1_Intron|ZNF627_ENST00000588651.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	256					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCACTCAGCACGTAGCCCACG	0.587																																						ENST00000592828.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						c.(766-768)Gtg>Atg		acid phosphatase 5, tartrate resistant							63.0	49.0	53.0					19																	11686037		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11686037C>T	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.766G>A	19.37:g.11686037C>T	ENSP00000468767:p.Val256Met					ACP5_ENST00000412435.2_Missense_Mutation_p.V256M|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V256M	p.V256M	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN			7	1168	-			256					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.766G>A	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354051	0.24512	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.71461	-0.57;-0.57;-0.57	4.82	2.55	0.30701	.	0.279582	0.35525	N	0.003156	T	0.57359	0.2048	L	0.56280	1.765	0.80722	D	1	P	0.37101	0.582	B	0.28465	0.09	T	0.52815	-0.8525	10	0.48119	T	0.1	-17.5314	7.146	0.25583	0.0:0.69:0.0:0.31	.	256	P13686	PPA5_HUMAN	M	256	ENSP00000218758:V256M;ENSP00000392374:V256M;ENSP00000413456:V256M	ENSP00000218758:V256M	V	-	1	0	ACP5	11547037	0.882000	0.30256	0.823000	0.32752	0.264000	0.26372	1.619000	0.36965	0.355000	0.24131	0.550000	0.68814	GTG		0.587	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			54	250	0	0	0	1	0	54	250				
PACRG	135138	broad.mit.edu	37	6	163510351	163510351	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163510351T>G	ENST00000337019.3	+	5	748	c.524T>G	c.(523-525)cTg>cGg	p.L175R	PACRG_ENST00000366888.2_Missense_Mutation_p.L175R|PACRG_ENST00000366889.2_Missense_Mutation_p.L175R	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	175					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTCCAGCATCTGGTTGTGTCA	0.458																																						ENST00000337019.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(523-525)cTg>cGg		PARK2 co-regulated							150.0	128.0	136.0					6																	163510351		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163510351T>G	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.524T>G	6.37:g.163510351T>G	ENSP00000337946:p.Leu175Arg					PACRG_ENST00000366889.2_Missense_Mutation_p.L175R|PACRG_ENST00000366888.2_Missense_Mutation_p.L175R	p.L175R	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	748	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	175					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.524T>G	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.659151|4.659151	0.88154|0.88154	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000542936	T;T;T|.	0.73258|.	-0.67;-0.73;-0.73|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82135|0.82135	0.4971|0.4971	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	D|D	0.86591|0.86591	0.1860|0.1860	10|5	0.87932|.	D|.	0|.	-15.6516|-15.6516	15.8327|15.8327	0.78769|0.78769	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	175;175|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	R|G	175|33	ENSP00000337946:L175R;ENSP00000355855:L175R;ENSP00000355854:L175R|.	ENSP00000337946:L175R|.	L|W	+|+	2|1	0|0	PACRG|PACRG	163430341|163430341	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.959000|0.959000	0.62525|0.62525	7.227000|7.227000	0.78070|0.78070	2.146000|2.146000	0.66826|0.66826	0.482000|0.482000	0.46254|0.46254	CTG|TGG		0.458	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		92	417	0	0	0	1	0	92	417				
GRIN3A	116443	broad.mit.edu	37	9	104390655	104390655	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104390655A>C	ENST00000361820.3	-	4	2981	c.2381T>G	c.(2380-2382)tTt>tGt	p.F794C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	794					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GACAGTTCCAAAGCGGAATCC	0.363																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2380-2382)tTt>tGt		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						96.0	86.0	90.0					9																	104390655		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104390655A>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2381T>G	9.37:g.104390655A>C	ENSP00000355155:p.Phe794Cys						p.F794C	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			4	2981	-		Acute lymphoblastic leukemia(62;0.0568)	794					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2381T>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000198785	ENST00000361820	T	0.27256	1.68	5.85	5.85	0.93711	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52749	-0.8534	10	0.49607	T	0.09	.	16.2421	0.82418	1.0:0.0:0.0:0.0	.	794	Q8TCU5	NMD3A_HUMAN	C	794	ENSP00000355155:F794C	ENSP00000355155:F794C	F	-	2	0	GRIN3A	103430476	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	TTT		0.363	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			54	226	0	0	0	1	0	54	226				
TAF15	8148	broad.mit.edu	37	17	34147406	34147406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34147406C>T	ENST00000588240.1	+	5	370	c.255C>T	c.(253-255)aaC>aaT	p.N85N	AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Silent_p.N82N|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CATATAATAACCAGGGACAGC	0.358			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(253-255)aaC>aaT		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							93.0	93.0	93.0					17																	34147406		2203	4300	6503	SO:0001819	synonymous_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34147406C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.255C>T	17.37:g.34147406C>T						AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Silent_p.N82N|TAF15_ENST00000592237.1_5'UTR	p.N85N	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	5	370	+		Ovarian(249;0.17)	85			Gln/Gly/Ser/Tyr-rich.		D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000588240.1	37	c.255C>T	CCDS32623.1																																																																																				0.358	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		67	310	0	0	0	1	0	67	310				
TWF2	11344	broad.mit.edu	37	3	52266028	52266028	+	Missense_Mutation	SNP	G	G	A	rs35114109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52266028G>A	ENST00000305533.5	-	3	457	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	TLR9_ENST00000494383.1_5'Flank|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.R72C	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	72	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.		R -> C (in dbSNP:rs35114109). {ECO:0000269|PubMed:17344846}.		barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGTCGAGGCGGTAGAGCAGG	0.647											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305533.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(214-216)Cgc>Tgc		twinfilin actin-binding protein 2							88.0	82.0	84.0					3																	52266028		2203	4300	6503	SO:0001583	missense	11344							g.chr3:52266028G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.214C>T	3.37:g.52266028G>A	ENSP00000303908:p.Arg72Cys		OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	983	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.R72C	p.R72C	NM_007284.3	NP_009215.1				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	457	-								Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.214C>T	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035583	0.75617	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.38560	1.13;1.13	5.61	5.61	0.85477	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.71660	0.3366	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.932	T	0.76528	-0.2926	9	0.66056	D	0.02	.	19.6089	0.95594	0.0:0.0:1.0:0.0	rs35114109	72;72	D6RG15;Q6IBS0	.;TWF2_HUMAN	C	72	ENSP00000303908:R72C;ENSP00000426464:R72C	ENSP00000303908:R72C	R	-	1	0	TWF2	52241068	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.880000	0.87243	2.644000	0.89710	0.455000	0.32223	CGC		0.647	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			74	295	0	0	0	1	0	74	295				
CNOT4	4850	broad.mit.edu	37	7	135080489	135080489	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135080489G>A	ENST00000315544.5	-	9	1305	c.1026C>T	c.(1024-1026)cgC>cgT	p.R342R	CNOT4_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000428680.2_Silent_p.R339R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000414802.1_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	342					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGTTGGGATGGCGAAAATTGT	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1015-1017)cgC>cgT		CCR4-NOT transcription complex, subunit 4							182.0	182.0	182.0					7																	135080489		1987	4151	6138	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135080489G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1026C>T	7.37:g.135080489G>A						CNOT4_ENST00000414802.1_Silent_p.R342R|CNOT4_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000315544.5_Silent_p.R342R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R	p.R339R	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			9	1296	-			342					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.1017C>T	CCDS55166.1																																																																																				0.527	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		74	303	0	0	0	1	0	74	303				
OR6X1	390260	broad.mit.edu	37	11	123624731	123624731	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624731A>C	ENST00000327930.2	-	1	522	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCCACAGAATGGCAACTGG	0.512																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(496-498)Ttc>Gtc		olfactory receptor, family 6, subfamily X, member 1							95.0	96.0	96.0					11																	123624731		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624731A>C	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.496T>G	11.37:g.123624731A>C	ENSP00000333724:p.Phe166Val						p.F166V	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	522	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	166					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.496T>G	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772160	0.69992	.	.	ENSG00000221931	ENST00000327930	T	0.00145	8.67	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.90369	3.11	0.40301	D	0.978608	D	0.53312	0.959	P	0.55508	0.777	T	0.70554	-0.4840	9	0.87932	D	0	-16.1591	12.1541	0.54066	1.0:0.0:0.0:0.0	.	166	Q8NH79	OR6X1_HUMAN	V	166	ENSP00000333724:F166V	ENSP00000333724:F166V	F	-	1	0	OR6X1	123129941	1.000000	0.71417	0.872000	0.34217	0.713000	0.41058	4.554000	0.60760	1.982000	0.57802	0.528000	0.53228	TTC		0.512	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		84	389	0	0	0	1	0	84	389				
SREBF1	6720	broad.mit.edu	37	17	17722393	17722393	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17722393G>A	ENST00000261646.5	-	5	1186	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	SREBF1_ENST00000338854.5_Silent_p.R334R|SREBF1_ENST00000435530.2_Silent_p.R334R|SREBF1_ENST00000355815.4_Silent_p.R364R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000395757.1_Silent_p.R80R	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	334	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGGAGCGGTAGCGCTTCTCAA	0.612																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1090-1092)cgC>cgT		sterol regulatory element binding transcription factor 1							98.0	90.0	93.0					17																	17722393		2203	4300	6503	SO:0001819	synonymous_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17722393G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1002C>T	17.37:g.17722393G>A						SREBF1_ENST00000261646.5_Silent_p.R334R|SREBF1_ENST00000435530.2_Silent_p.R334R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000395757.1_Silent_p.R80R|SREBF1_ENST00000338854.5_Silent_p.R334R	p.R364R	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			6	1261	-			334			Helix-loop-helix motif.|Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	c.1092C>T	CCDS11189.1																																																																																				0.612	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		11	442	0	0	0	1	0	11	442				
TNKS1BP1	85456	broad.mit.edu	37	11	57076904	57076904	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076904A>G	ENST00000532437.1	-	5	3592	c.3281T>C	c.(3280-3282)gTt>gCt	p.V1094A	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1094	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGGGCCAACACTGAGGCT	0.612																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3280-3282)gTt>gCt		tankyrase 1 binding protein 1, 182kDa							80.0	67.0	71.0					11																	57076904		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076904A>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3281T>C	11.37:g.57076904A>G	ENSP00000437271:p.Val1094Ala					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A	p.V1094A			Q9C0C2	TB182_HUMAN			5	3592	-		all_epithelial(135;0.21)	1094			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3281T>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	A	9.350	1.065205	0.20067	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32753	1.44;1.44	4.85	2.33	0.28932	.	0.498700	0.16510	N	0.211295	T	0.22936	0.0554	N	0.21142	0.635	0.09310	N	1	D	0.56287	0.975	P	0.53062	0.717	T	0.08310	-1.0728	10	0.10111	T	0.7	-3.9478	4.1775	0.10358	0.5689:0.1727:0.0:0.2584	.	1094	Q9C0C2	TB182_HUMAN	A	1094	ENSP00000350990:V1094A;ENSP00000437271:V1094A	ENSP00000350990:V1094A	V	-	2	0	TNKS1BP1	56833480	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.067000	0.11579	0.691000	0.31592	0.379000	0.24179	GTT		0.612	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		87	302	0	0	0	1	0	87	302				
MAN2B2	23324	broad.mit.edu	37	4	6599013	6599013	+	Missense_Mutation	SNP	C	C	T	rs372236715	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6599013C>T	ENST00000285599.3	+	8	1267	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	411					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCAGCAGCTTCGCTGGGCCGT	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		17883	0.0		0.0	False		,,,				2504	0.002					ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1231-1233)Cgc>Tgc		mannosidase, alpha, class 2B, member 2		C	CYS/ARG	1,4403		0,1,2201	32.0	37.0	35.0		1231	4.4	1.0	4		35	0,8594		0,0,4297	no	missense	MAN2B2	NM_015274.1	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	411/1010	6599013	1,12997	2202	4297	6499	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6599013C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1231C>T	4.37:g.6599013C>T	ENSP00000285599:p.Arg411Cys					MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	p.R411C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			8	1267	+			411					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1231C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900586	0.72754	2.27E-4	0.0	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.77358	-1.09;-1.09	5.27	4.42	0.53409	Glycoside hydrolase, family 38, central domain (2);	0.171581	0.51477	D	0.000090	D	0.90400	0.6995	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90863	0.4740	10	0.87932	D	0	-28.4917	8.4584	0.32912	0.1536:0.7633:0.0:0.0831	.	360;411;411	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	411;360	ENSP00000285599:R411C;ENSP00000423129:R360C	ENSP00000285599:R411C	R	+	1	0	MAN2B2	6649914	0.907000	0.30839	1.000000	0.80357	0.968000	0.65278	1.407000	0.34657	1.195000	0.43115	0.643000	0.83706	CGC		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		91	387	0	0	0	1	0	91	387				
HECW1	23072	broad.mit.edu	37	7	43490509	43490509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43490509C>T	ENST00000395891.2	+	12	3086	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	HECW1_ENST00000453890.1_Intron	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	827					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCAACAATCGATGAGCCTC	0.418																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2479-2481)atC>atT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							140.0	136.0	137.0					7																	43490509		1926	4127	6053	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43490509C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2481C>T	7.37:g.43490509C>T						HECW1_ENST00000453890.1_Intron	p.I827I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			12	3086	+			827					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2481C>T	CCDS5469.2																																																																																				0.418	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		9	300	0	0	0	1	0	9	300				
TRPV6	55503	broad.mit.edu	37	7	142575012	142575012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142575012C>T	ENST00000359396.3	-	4	615	c.370G>A	c.(370-372)Gct>Act	p.A124T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	124					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TTCACAACAGCGATGTGCAGT	0.627																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(370-372)Gct>Act		transient receptor potential cation channel, subfamily V, member 6							86.0	80.0	82.0					7																	142575012		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575012C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.370G>A	7.37:g.142575012C>T	ENSP00000352358:p.Ala124Thr					RP11-114L10.2_ENST00000438839.1_RNA	p.A124T	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			4	615	-	Melanoma(164;0.059)		124					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.370G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227596	0.79576	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	D;T	0.81996	-1.56;-1.43	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.053052	0.85682	D	0.000000	D	0.91942	0.7448	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.93893	0.7181	10	0.72032	D	0.01	-12.2989	14.9814	0.71313	0.0:1.0:0.0:0.0	.	124	Q9H1D0	TRPV6_HUMAN	T	124;51	ENSP00000352358:A124T;ENSP00000415917:A51T	ENSP00000352358:A124T	A	-	1	0	TRPV6	142285134	1.000000	0.71417	0.550000	0.28217	0.993000	0.82548	7.209000	0.77916	1.995000	0.58328	0.655000	0.94253	GCT		0.627	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		56	362	0	0	0	1	0	56	362				
SLC5A5	6528	broad.mit.edu	37	19	17988836	17988836	+	Silent	SNP	C	C	T	rs550545031		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988836C>T	ENST00000222248.3	+	7	1250	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	301					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTGTGGCATCGTCATGTTTG	0.627																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(901-903)atC>atT		solute carrier family 5 (sodium/iodide cotransporter), member 5							118.0	84.0	95.0					19																	17988836		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17988836C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.903C>T	19.37:g.17988836C>T							p.I301I	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			7	1250	+			301					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.903C>T	CCDS12368.1																																																																																				0.627	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			27	252	0	0	0	1	0	27	252				
TBC1D17	79735	broad.mit.edu	37	19	50387800	50387800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50387800G>A	ENST00000221543.5	+	12	1627	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D	TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	443	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGTTTCTGTGGCTTCATGGAG	0.592																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1327-1329)gGc>gAc		TBC1 domain family, member 17							161.0	163.0	162.0					19																	50387800		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50387800G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1328G>A	19.37:g.50387800G>A	ENSP00000221543:p.Gly443Asp					TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	p.G443D	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	12	1627	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	443			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1328G>A	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061458	0.93846	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11169	2.8;2.8	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79108	0.979;0.992	T	0.30149	-0.9988	10	0.59425	D	0.04	-41.3911	16.2481	0.82460	0.0:0.0:1.0:0.0	.	410;443	F5H1W7;Q9HA65	.;TBC17_HUMAN	D	443;410	ENSP00000221543:G443D;ENSP00000446323:G410D	ENSP00000221543:G443D	G	+	2	0	TBC1D17	55079612	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.017000	0.57167	2.424000	0.82194	0.561000	0.74099	GGC		0.592	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		25	582	0	0	0	1	0	25	582				
SNRNP200	23020	broad.mit.edu	37	2	96944327	96944327	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96944327C>A	ENST00000323853.5	-	38	5523	c.5446G>T	c.(5446-5448)Ggc>Tgc	p.G1816C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1816	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCGATCATGCCTAGGTTCAGA	0.582																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(5446-5448)Ggc>Tgc		small nuclear ribonucleoprotein 200kDa (U5)							109.0	99.0	102.0					2																	96944327		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96944327C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5446G>T	2.37:g.96944327C>A	ENSP00000317123:p.Gly1816Cys					SNRNP200_ENST00000349783.5_Intron	p.G1816C	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			38	5523	-			1816			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.5446G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079152	0.76528	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.84589	-1.87	5.62	5.62	0.85841	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.88704	2.975	0.80722	D	1	P	0.45768	0.866	P	0.54924	0.764	D	0.92921	0.6355	10	0.62326	D	0.03	-16.916	18.7951	0.91991	0.0:1.0:0.0:0.0	.	1816	O75643	U520_HUMAN	C	1816;275;399	ENSP00000317123:G1816C	ENSP00000317123:G1816C	G	-	1	0	SNRNP200	96308054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.531000	0.81973	2.804000	0.96469	0.655000	0.94253	GGC		0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		44	458	1	0	5.48756e-27	1	6.34209e-27	44	458				
IL12A-AS1	101928376	broad.mit.edu	37	3	159819523	159819523	+	RNA	SNP	C	C	T	rs571305946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:159819523C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		GAAAAAGATACGCTTGAAGAT	0.488																																						ENST00000497452.1																			0																																																			0							g.chr3:159819523C>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819523C>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.488	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			200	854	0	0	0	1	0	200	854				
ZNF331	55422	broad.mit.edu	37	19	54074947	54074947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54074947C>T	ENST00000253144.9	+	6	1432	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D|ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTACTGGGACGTGATGCTGG	0.522			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(97-99)gaC>gaT		zinc finger protein 331							240.0	227.0	231.0					19																	54074947		2203	4300	6503	SO:0001819	synonymous_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54074947C>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.99C>T	19.37:g.54074947C>T						ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D|ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D	p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	6	1432	+			33			KRAB.		Q96GJ4	Silent	SNP	ENST00000253144.9	37	c.99C>T	CCDS33102.1																																																																																				0.522	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		204	915	0	0	0	1	0	204	915				
ADRA2B	151	broad.mit.edu	37	2	96781849	96781849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781849C>T	ENST00000409345.3	-	1	135	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	14					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCGCTATGGCCGCTGTGGCC	0.672																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(40-42)Gcc>Acc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						17.0	23.0	21.0					2																	96781849		2096	4209	6305	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781849C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.40G>A	2.37:g.96781849C>T	ENSP00000387281:p.Ala14Thr						p.A14T	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	135	-			14					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.40G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696581	0.48202	.	.	ENSG00000222040	ENST00000409345	T	0.37584	1.19	4.28	4.28	0.50868	.	.	.	.	.	T	0.41534	0.1163	L	0.48986	1.54	0.48762	D	0.999704	P	0.52842	0.956	P	0.50825	0.651	T	0.14896	-1.0456	9	0.25751	T	0.34	.	14.3119	0.66422	0.0:1.0:0.0:0.0	.	14	P18089	ADA2B_HUMAN	T	14	ENSP00000387281:A14T	ENSP00000387281:A14T	A	-	1	0	ADRA2B	96145576	0.939000	0.31865	0.966000	0.40874	0.374000	0.29953	2.044000	0.41241	2.213000	0.71641	0.456000	0.33151	GCC		0.672	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			4	101	0	0	0	1	0	4	101				
COBL	23242	broad.mit.edu	37	7	51092833	51092833	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51092833G>A	ENST00000265136.7	-	12	3906	c.3741C>T	c.(3739-3741)tcC>tcT	p.S1247S	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Silent_p.S1329S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1247	WH2 3. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCCTGTGCCGGAGCGGATGG	0.632																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3985-3987)tcC>tcT		cordon-bleu WH2 repeat protein							122.0	121.0	121.0					7																	51092833		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51092833G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3741C>T	7.37:g.51092833G>A						COBL_ENST00000265136.7_Silent_p.S1247S	p.S1329S			O75128	COBL_HUMAN			14	4171	-	Glioma(55;0.08)		1247					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.3987C>T	CCDS34637.1																																																																																				0.632	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		149	777	0	0	0	1	0	149	777				
WASF1	8936	broad.mit.edu	37	6	110423106	110423106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110423106C>T	ENST00000392589.1	-	10	2043	c.1207G>A	c.(1207-1209)Gct>Act	p.A403T	WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T|WASF1_ENST00000392586.1_Missense_Mutation_p.A403T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	403					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ACTGGGGCAGCTCTAGCTACT	0.592																																						ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1207-1209)Gct>Act		WAS protein family, member 1							95.0	93.0	93.0					6																	110423106		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423106C>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1207G>A	6.37:g.110423106C>T	ENSP00000376368:p.Ala403Thr					WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392586.1_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T	p.A403T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	2043	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	403					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1207G>A	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830312	0.50845	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.56	5.56	0.83823	.	0.643630	0.16262	N	0.222188	T	0.15869	0.0382	N	0.08118	0	0.41624	D	0.988985	B	0.06786	0.001	B	0.06405	0.002	T	0.13176	-1.0519	10	0.11485	T	0.65	.	19.5397	0.95270	0.0:1.0:0.0:0.0	.	403	Q92558	WASF1_HUMAN	T	403	ENSP00000376365:A403T;ENSP00000376366:A403T;ENSP00000376368:A403T;ENSP00000376367:A403T;ENSP00000352425:A403T	ENSP00000352425:A403T	A	-	1	0	WASF1	110529799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.282000	0.51693	2.623000	0.88846	0.655000	0.94253	GCT		0.592	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		58	238	0	0	0	1	0	58	238				
PTPDC1	138639	broad.mit.edu	37	9	96846909	96846909	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846909C>T	ENST00000375360.3	+	3	422				PTPDC1_ENST00000288976.3_Missense_Mutation_p.R33W	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCAGTACTGCGGCTGCAGCA	0.667																																						ENST00000288976.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(97-99)Cgg>Tgg		protein tyrosine phosphatase domain containing 1							33.0	35.0	35.0					9																	96846909		2182	4269	6451	SO:0001627	intron_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96846909C>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.83-624C>T	9.37:g.96846909C>T						PTPDC1_ENST00000375360.3_Intron	p.R33W	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN			1	164	+			0					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.97C>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872737	0.33069	.	.	ENSG00000158079	ENST00000288976	T	0.16324	2.35	5.68	1.35	0.21983	.	1.591560	0.03622	N	0.236556	T	0.12689	0.0308	N	0.22421	0.69	0.09310	N	1	B;B	0.18310	0.016;0.027	B;B	0.12837	0.003;0.008	T	0.31392	-0.9945	10	0.62326	D	0.03	0.0487	4.2931	0.10888	0.3229:0.4473:0.0:0.2298	.	33;33	E7EN59;A2A3K4-2	.;.	W	33	ENSP00000288976:R33W	ENSP00000288976:R33W	R	+	1	2	PTPDC1	95886730	0.900000	0.30661	0.011000	0.14972	0.734000	0.41952	0.803000	0.27083	0.034000	0.15491	0.591000	0.81541	CGG		0.667	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		80	370	0	0	0	1	0	80	370				
RARG	5916	broad.mit.edu	37	12	53607995	53607995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607995G>A	ENST00000425354.2	-	7	1148	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	221	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGATCCAGCTGCACGCGGTGG	0.567																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(661-663)Cag>Tag		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						86.0	74.0	78.0					12																	53607995		2203	4300	6503	SO:0001587	stop_gained	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607995G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.661C>T	12.37:g.53607995G>A	ENSP00000388510:p.Gln221*					RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*	p.Q221*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			7	1148	-			221			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Nonsense_Mutation	SNP	ENST00000425354.2	37	c.661C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	40	8.151613	0.98678	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.	.	.	5.37	4.48	0.54585	.	0.106321	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.074	0.59077	0.0793:0.0:0.9207:0.0	.	.	.	.	X	221;221;149;210;199;258	.	ENSP00000332695:Q149X	Q	-	1	0	RARG	51894262	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	4.104000	0.57790	1.403000	0.46800	0.563000	0.77884	CAG		0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		91	429	0	0	0	1	0	91	429				
RFFL	117584	broad.mit.edu	37	17	33348430	33348430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348430G>A	ENST00000315249.7	-	3	773	c.551C>T	c.(550-552)gCc>gTc	p.A184V	RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000268850.7_Missense_Mutation_p.A184V|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_Missense_Mutation_p.A184V					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACAGAGGTGGCTTGTGCAGA	0.552																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(550-552)gCc>gTc		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							70.0	63.0	65.0					17																	33348430		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33348430G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.551C>T	17.37:g.33348430G>A	ENSP00000326170:p.Ala184Val					RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_Missense_Mutation_p.A184V|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V|RFFL_ENST00000268850.7_Missense_Mutation_p.A184V	p.A184V			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	773	-		Ovarian(249;0.17)	184						Missense_Mutation	SNP	ENST00000315249.7	37	c.551C>T	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033387	0.19590	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.46063	0.88;0.88;0.89;0.94;0.89;0.88	5.29	4.32	0.51571	.	0.493756	0.19078	N	0.123321	T	0.22322	0.0538	N	0.05230	-0.09	0.24595	N	0.993809	B;B;B;B	0.12630	0.006;0.001;0.0;0.001	B;B;B;B	0.12156	0.007;0.002;0.002;0.004	T	0.13255	-1.0516	10	0.23302	T	0.38	-7.8595	12.2476	0.54578	0.0825:0.0:0.9175:0.0	.	184;184;184;184	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	V	184	ENSP00000326170:A184V;ENSP00000378096:A184V;ENSP00000367777:A184V;ENSP00000268850:A184V;ENSP00000408513:A184V;ENSP00000412322:A184V	ENSP00000268850:A184V	A	-	2	0	RFFL	30372543	0.986000	0.35501	0.726000	0.30738	0.232000	0.25224	3.985000	0.56930	1.440000	0.47531	0.655000	0.94253	GCC		0.552	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		37	162	0	0	0	1	0	37	162				
TPM1	7168	broad.mit.edu	37	15	63356268	63356268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63356268C>T	ENST00000403994.3	+	9	858	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	TPM1_ENST00000357980.4_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000559281.1_Silent_p.L224L|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000288398.6_Silent_p.L260L	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	260					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CATAGACGAGCTGTACGCTCA	0.522																																						ENST00000288398.6																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(778-780)Ctg>Ttg		tropomyosin 1 (alpha)							113.0	86.0	95.0					15																	63356268		2203	4300	6503	SO:0001819	synonymous_variant	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63356268C>T	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.778C>T	15.37:g.63356268C>T						TPM1_ENST00000403994.3_Silent_p.L260L|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000559281.1_Silent_p.L224L|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000559397.1_Intron	p.L260L	NM_000366.5	NP_000357.3	P09493	TPM1_HUMAN			9	976	+			260					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Silent	SNP	ENST00000403994.3	37	c.778C>T	CCDS45273.1																																																																																				0.522	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		22	126	0	0	0	1	0	22	126				
IRX1	79192	broad.mit.edu	37	5	3599539	3599539	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599539G>T	ENST00000302006.3	+	2	529	c.477G>T	c.(475-477)gaG>gaT	p.E159D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	159					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAAGGGCGAGAAGATCATGC	0.637																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(475-477)gaG>gaT		iroquois homeobox 1							162.0	126.0	138.0					5																	3599539		2203	4298	6501	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599539G>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.477G>T	5.37:g.3599539G>T	ENSP00000305244:p.Glu159Asp					CTD-2012M11.3_ENST00000559410.1_RNA	p.E159D	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	529	+			159					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.477G>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015539	0.93404	.	.	ENSG00000170549	ENST00000302006	D	0.85702	-2.02	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89451	0.3730	10	0.46703	T	0.11	.	17.5082	0.87753	0.0:0.0:1.0:0.0	.	159	P78414	IRX1_HUMAN	D	159	ENSP00000305244:E159D	ENSP00000305244:E159D	E	+	3	2	IRX1	3652539	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.478000	0.73596	2.173000	0.68751	0.655000	0.94253	GAG		0.637	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		85	498	1	0	2.05912e-35	1	2.45818e-35	85	498				
KCNE4	23704	broad.mit.edu	37	2	223917882	223917882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223917882G>A	ENST00000281830.3	+	2	818	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	163						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCGCCCGCGCTGTCCTG	0.672																																						ENST00000281830.3																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)	10						c.(487-489)Gcg>Acg		potassium voltage-gated channel, Isk-related family, member 4							46.0	46.0	46.0					2																	223917882		2203	4300	6503	SO:0001583	missense	23704					integral to membrane	voltage-gated potassium channel activity	g.chr2:223917882G>A	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.487G>A	2.37:g.223917882G>A	ENSP00000281830:p.Ala163Thr					KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T|KCNE4_ENST00000488477.2_Intron	p.A163T			Q8WWG9	KCNE4_HUMAN		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	818	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	112					B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	18.29	3.592390	0.66219	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.24	0.73138	.	0.120024	0.64402	D	0.000014	T	0.27349	0.0671	N	0.14661	0.345	0.38093	D	0.937028	P	0.48998	0.918	B	0.35510	0.204	T	0.21724	-1.0237	9	0.48119	T	0.1	-7.5564	12.892	0.58076	0.0:0.1159:0.7509:0.1332	.	112	Q8WWG9	KCNE4_HUMAN	T	112	.	ENSP00000281830:A112T	A	+	1	0	KCNE4	223626126	1.000000	0.71417	0.972000	0.41901	1.000000	0.99986	3.571000	0.53841	2.937000	0.99478	0.650000	0.86243	GCG		0.672	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		108	266	0	0	0	1	0	108	266				
LRRC30	339291	broad.mit.edu	37	18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T	rs370451342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19868	0.0		0.0	False		,,,				2504	0.0					ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(136-138)Cgg>Tgg		leucine rich repeat containing 30		C	TRP/ARG	1,3965		0,1,1982	71.0	75.0	73.0		136	5.7	1.0	18		73	0,8322		0,0,4161	no	missense	LRRC30	NM_001105581.1	101	0,1,6143	TT,TC,CC		0.0,0.0252,0.0081	probably-damaging	46/302	7231272	1,12287	1983	4161	6144	SO:0001583	missense	339291							g.chr18:7231272C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.136C>T	18.37:g.7231272C>T	ENSP00000372959:p.Arg46Trp						p.R46W	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	150	+			46						Missense_Mutation	SNP	ENST00000383467.2	37	c.136C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017675	0.75161	2.52E-4	0.0	ENSG00000206422	ENST00000383467	T	0.46063	0.88	5.65	5.65	0.86999	.	0.523108	0.19917	N	0.103161	T	0.39226	0.1070	L	0.32530	0.975	0.38096	D	0.937119	D	0.71674	0.998	P	0.47528	0.549	T	0.35500	-0.9786	10	0.56958	D	0.05	.	12.5974	0.56478	0.0:0.9239:0.0:0.0761	.	46	A6NM36	LRC30_HUMAN	W	46	ENSP00000372959:R46W	ENSP00000372959:R46W	R	+	1	2	LRRC30	7221272	0.998000	0.40836	0.976000	0.42696	0.825000	0.46686	0.830000	0.27462	2.827000	0.97445	0.650000	0.86243	CGG		0.597	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		92	401	0	0	0	1	0	92	401				
KALRN	8997	broad.mit.edu	37	3	124149506	124149506	+	Silent	SNP	C	C	T	rs138919966	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124149506C>T	ENST00000240874.3	+	16	2864	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L	KALRN_ENST00000460856.1_Silent_p.L903L|KALRN_ENST00000360013.3_Silent_p.L903L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	903					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCCTAGGTTCTGGGATGGAT	0.567													C|||	12	0.00239617	0.0	0.0	5008	,	,		21582	0.0109		0.0	False		,,,				2504	0.001					ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(2707-2709)Ctg>Ttg		kalirin, RhoGEF kinase							97.0	80.0	86.0					3																	124149506		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124149506C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2707C>T	3.37:g.124149506C>T						KALRN_ENST00000460856.1_Silent_p.L903L|KALRN_ENST00000240874.3_Silent_p.L903L	p.L903L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			16	2834	+			903					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.2707C>T	CCDS3027.1																																																																																				0.567	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		25	223	0	0	0	1	0	25	223				
POLB	5423	broad.mit.edu	37	8	42218842	42218842	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42218842C>A	ENST00000265421.4	+	10	750	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	POLB_ENST00000538005.1_Missense_Mutation_p.L40I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	194					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CATGGATGTTCTCCTGACCCA	0.423								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(580-582)Ctc>Atc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						171.0	143.0	153.0					8																	42218842		2203	4300	6503	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42218842C>A		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.580C>A	8.37:g.42218842C>A	ENSP00000265421:p.Leu194Ile					POLB_ENST00000538005.1_Missense_Mutation_p.L40I	p.L194I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	750	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	194					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.580C>A	CCDS6129.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.86|13.86|13.86	2.363974|2.363974|2.363974	0.41902|0.41902|0.41902	.|.|.	.|.|.	ENSG00000070501|ENSG00000070501|ENSG00000070501	ENST00000518579;ENST00000517393|ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005|ENST00000521290	.|T;T;T;T|.	.|0.57595|.	.|0.39;0.39;0.39;1.1|.	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|DNA-directed DNA polymerase X (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.69079|0.69079|0.69079	0.3071|0.3071|0.3071	L|L|L	0.49640|0.49640|0.49640	1.575|1.575|1.575	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;D|.	.|0.56746|.	.|0.91;0.977|.	.|P;P|.	.|0.60173|.	.|0.761;0.87|.	T|T|T	0.65417|0.65417|0.65417	-0.6173|-0.6173|-0.6173	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-11.6267|-11.6267|-11.6267	17.0639|17.0639|17.0639	0.86554|0.86554|0.86554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|194;194|.	.|Q53EV2;P06746|.	.|.;DPOLB_HUMAN|.	L|I|Y	51;9|194;40;229;40|124	.|ENSP00000265421:L194I;ENSP00000430610:L40I;ENSP00000430784:L229I;ENSP00000440497:L40I|.	.|ENSP00000265421:L194I|.	F|L|S	+|+|+	3|1|2	2|0|0	POLB|POLB|POLB	42337999|42337999|42337999	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.947000|0.947000|0.947000	0.38551|0.38551|0.38551	0.016000|0.016000|0.016000	0.09150|0.09150|0.09150	5.810000|5.810000|5.810000	0.69179|0.69179|0.69179	2.629000|2.629000|2.629000	0.89072|0.89072|0.89072	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TTC|CTC|TCT		0.423	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		8	244	1	0	0.000274275	1	0.000278163	8	244				
DSEL	92126	broad.mit.edu	37	18	65178934	65178934	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178934C>A	ENST00000310045.7	-	2	4415	c.2942G>T	c.(2941-2943)aGa>aTa	p.R981I	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	971					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATTTGACTTCTTTGTTCTGG	0.398																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2941-2943)aGa>aTa		dermatan sulfate epimerase-like							47.0	53.0	51.0					18																	65178934		2191	4299	6490	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178934C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2942G>T	18.37:g.65178934C>A	ENSP00000310565:p.Arg981Ile					CTD-2541J13.2_ENST00000583493.1_RNA	p.R981I	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4415	-		Esophageal squamous(42;0.129)	971					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2942G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591988	0.46214	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20463	2.07	5.17	4.29	0.51040	Sulfotransferase domain (1);	0.078108	0.50627	U	0.000120	T	0.32102	0.0818	L	0.44542	1.39	0.54753	D	0.999988	D	0.58970	0.984	P	0.60541	0.876	T	0.02567	-1.1140	10	0.87932	D	0	-17.4992	10.2898	0.43588	0.0:0.848:0.0:0.152	.	971	Q8IZU8	DSEL_HUMAN	I	981;971	ENSP00000310565:R981I	ENSP00000310565:R981I	R	-	2	0	DSEL	63329914	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.523000	0.35932	2.403000	0.81681	0.563000	0.77884	AGA		0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		47	374	1	0	1.7489e-18	1	1.94175e-18	47	374				
FBN1	2200	broad.mit.edu	37	15	48704816	48704816	+	Missense_Mutation	SNP	G	G	A	rs398122832|rs61746008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48704816G>A	ENST00000316623.5	-	65	8631	c.8176C>T	c.(8176-8178)Cgg>Tgg	p.R2726W	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2726			R -> W (in MFS; defects in protein processing; dbSNP:rs61746008). {ECO:0000269|PubMed:7738200}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCCTGCCCCGTTTGGGGTAG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19870	0.0		0.0	False		,,,				2504	0.0					ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM950453	FBN1	M	rs61746008	c.(8176-8178)Cgg>Tgg		fibrillin 1		G	TRP/ARG	5,4391	11.4+/-27.6	0,5,2193	228.0	186.0	200.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	8176	1.0	0.9	15	dbSNP_129	200	9,8583	7.1+/-27.0	0,9,4287	yes	missense	FBN1	NM_000138.4	101	0,14,6480	AA,AG,GG		0.1047,0.1137,0.1078	probably-damaging	2726/2872	48704816	14,12974	2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48704816G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8176C>T	15.37:g.48704816G>A	ENSP00000325527:p.Arg2726Trp					FBN1_ENST00000561429.1_5'UTR	p.R2726W	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	65	8631	-		all_lung(180;0.00279)	2726		R -> W (in MFS; defects in protein processing).			B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8176C>T	CCDS32232.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.11	3.306873	0.60305	0.001137	0.001047	ENSG00000166147	ENST00000316623	D	0.83591	-1.74	5.38	1.03	0.20045	Growth factor, receptor (1);	0.104411	0.64402	D	0.000004	T	0.79275	0.4418	M	0.69823	2.125	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.74785	-0.3547	10	0.87932	D	0	.	9.5746	0.39450	0.0692:0.0:0.3942:0.5366	.	2726	P35555	FBN1_HUMAN	W	2726	ENSP00000325527:R2726W	ENSP00000325527:R2726W	R	-	1	2	FBN1	46492108	1.000000	0.71417	0.888000	0.34837	0.873000	0.50193	2.367000	0.44213	0.348000	0.23949	0.655000	0.94253	CGG		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			154	593	0	0	0	1	0	154	593				
KDELC1	79070	broad.mit.edu	37	13	103450919	103450919	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103450919T>C	ENST00000376004.4	-	1	438	c.102A>G	c.(100-102)atA>atG	p.I34M	BIVM_ENST00000419638.1_5'Flank|BIVM_ENST00000257336.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000448849.2_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	34						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGGGTCCCCATATTTCGCTCT	0.532																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(100-102)atA>atG		KDEL (Lys-Asp-Glu-Leu) containing 1							75.0	71.0	72.0					13																	103450919		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103450919T>C	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.102A>G	13.37:g.103450919T>C	ENSP00000365172:p.Ile34Met					KDELC1_ENST00000460338.1_5'UTR	p.I34M	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			1	438	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		34					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.102A>G	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011978	0.75046	.	.	ENSG00000134901	ENST00000376004	T	0.25250	1.81	5.32	4.14	0.48551	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.507646	0.23243	N	0.050323	T	0.28001	0.0690	L	0.36672	1.1	0.32461	N	0.544094	B	0.20780	0.048	B	0.39185	0.293	T	0.41520	-0.9504	10	0.87932	D	0	.	10.5719	0.45204	0.0:0.0763:0.0:0.9237	.	34	Q6UW63	KDEL1_HUMAN	M	34	ENSP00000365172:I34M	ENSP00000365172:I34M	I	-	3	3	KDELC1	102248920	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.226000	0.17776	2.141000	0.66446	0.528000	0.53228	ATA		0.532	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			59	243	0	0	0	1	0	59	243				
MIR548I2	100302277	broad.mit.edu	37	4	9557806	9557806	+	RNA	SNP	G	G	A	rs568510694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9557806G>A	ENST00000408348.1	-	0	131					NR_031688.1				microRNA 548i-2																		GATCAGGGACGAACTTTGTTA	0.383													.|||	1	0.000199681	0.0	0.0	5008	,	,		19510	0.001		0.0	False		,,,				2504	0.0					ENST00000408348.1																			0																				172.0	193.0	187.0					4																	9557806		1568	3582	5150			0							g.chr4:9557806G>A			4p16.1	2011-09-12		2008-12-18	ENSG00000221275	ENSG00000221275		"""ncRNAs / Micro RNAs"""	35353	non-coding RNA	RNA, micro				MIRN548I2			Standard	NR_031688		Approved	hsa-mir-548i-2	uc021xlt.1				4.37:g.9557806G>A								NR_031688.1						0	131	-									RNA	SNP	ENST00000408348.1	37																																																																																						0.383	MIR548I2-201	KNOWN	basic	miRNA	miRNA		NR_031688		131	694	0	0	0	1	0	131	694				
MCM3	4172	broad.mit.edu	37	6	52147572	52147572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52147572C>A	ENST00000229854.7	-	3	355	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MCM3_ENST00000419835.2_Missense_Mutation_p.K47N|MCM3_ENST00000596288.1_Missense_Mutation_p.K138N			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	93					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCTCATACTGCTTGGCATAGG	0.532																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(412-414)aaG>aaT		minichromosome maintenance complex component 3							89.0	89.0	89.0					6																	52147572		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52147572C>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.279G>T	6.37:g.52147572C>A	ENSP00000229854:p.Lys93Asn					MCM3_ENST00000419835.2_Missense_Mutation_p.K47N|MCM3_ENST00000229854.7_Missense_Mutation_p.K93N	p.K138N	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			3	441	-	Lung NSC(77;0.0931)		93					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.414G>T		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555099	0.65425	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11821	2.74;4.17	5.59	4.73	0.59995	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	M	0.87682	2.9	0.80722	D	1	B;B	0.31989	0.35;0.224	B;B	0.34301	0.179;0.179	T	0.01440	-1.1354	10	0.42905	T	0.14	-27.4225	14.3189	0.66470	0.0:0.9287:0.0:0.0713	.	47;93	B4DUQ9;P25205	.;MCM3_HUMAN	N	93;47	ENSP00000229854:K93N;ENSP00000388647:K47N	ENSP00000229854:K93N	K	-	3	2	MCM3	52255531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.712000	0.37940	1.366000	0.46076	0.655000	0.94253	AAG		0.532	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			46	250	1	0	3.21987e-24	1	3.67739e-24	46	250				
SYNE2	23224	broad.mit.edu	37	14	64542662	64542662	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64542662G>T	ENST00000344113.4	+	54	11078		c.e54-1		SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000394768.2_5'UTR|SYNE2_ENST00000358025.3_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATGCTTTTAGGAGCTTCAAA	0.378																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.e54-1		spectrin repeat containing, nuclear envelope 2							56.0	58.0	57.0					14																	64542662		2203	4299	6502	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64542662G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10867-1G>T	14.37:g.64542662G>T						SYNE2_ENST00000394768.2_5'UTR|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site				Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	54	11096	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37		CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924215	0.52653	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63612415	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.718000	0.74713	2.769000	0.95229	0.655000	0.94253	.		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Intron	12	254	1	0	4.36969e-10	1	4.6211e-10	12	254				
SPG7	6687	broad.mit.edu	37	16	89598955	89598955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89598955C>T	ENST00000268704.2	+	9	1250	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	SPG7_ENST00000341316.2_Missense_Mutation_p.A412V|RNU7-117P_ENST00000516770.1_RNA	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	412					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGATCGACGCGGTGGGCAAG	0.627																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1234-1236)gCg>gTg		spastic paraplegia 7 (pure and complicated autosomal recessive)							43.0	44.0	44.0					16																	89598955		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598955C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1235C>T	16.37:g.89598955C>T	ENSP00000268704:p.Ala412Val					SPG7_ENST00000341316.2_Missense_Mutation_p.A412V	p.A412V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	9	1250	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	412					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1235C>T	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747758	0.89663	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94138	-3.36;-3.36	5.45	5.45	0.79879	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.048162	0.85682	D	0.000000	D	0.96781	0.8949	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97102	0.9798	10	0.87932	D	0	-1.6581	19.3347	0.94312	0.0:1.0:0.0:0.0	.	412;412	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	V	412	ENSP00000268704:A412V;ENSP00000341157:A412V	ENSP00000268704:A412V	A	+	2	0	SPG7	88126456	1.000000	0.71417	0.235000	0.24058	0.352000	0.29268	7.455000	0.80726	2.571000	0.86741	0.456000	0.33151	GCG		0.627	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		74	347	0	0	0	1	0	74	347				
LACE1	246269	broad.mit.edu	37	6	108840900	108840900	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108840900G>A	ENST00000368977.4	+	12	1390	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	402						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TCTATTTCAGGTGCGTATAAT	0.348																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.e12-1		lactation elevated 1							135.0	129.0	131.0					6																	108840900		2203	4300	6503	SO:0001630	splice_region_variant	246269						ATP binding	g.chr6:108840900G>A	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1204-1G>A	6.37:g.108840900G>A							p.V402_splice	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	12	1390	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	402					Q8N6A3	Splice_Site	SNP	ENST00000368977.4	37	c.1203_splice	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605248	0.66445	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91638	0.5324	8	.	.	.	-14.8229	19.6956	0.96023	0.0:0.0:1.0:0.0	.	402	Q8WV93	LACE1_HUMAN	M	402	.	.	V	+	1	0	LACE1	108947593	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	6.440000	0.73435	2.757000	0.94681	0.561000	0.74099	GTG		0.348	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	Missense_Mutation	58	301	0	0	0	1	0	58	301				
SPARCL1	8404	broad.mit.edu	37	4	88414858	88414858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88414858C>T	ENST00000282470.6	-	4	1564	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	SPARCL1_ENST00000503414.1_Missense_Mutation_p.S240N|SPARCL1_ENST00000418378.1_Missense_Mutation_p.S365N	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	365					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AAAGGCCTGGCTTGGGATGAA	0.478																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1093-1095)aGc>aAc		SPARC-like 1 (hevin)							96.0	90.0	92.0					4																	88414858		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414858C>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1094G>A	4.37:g.88414858C>T	ENSP00000282470:p.Ser365Asn					SPARCL1_ENST00000503414.1_Missense_Mutation_p.S240N|SPARCL1_ENST00000282470.6_Missense_Mutation_p.S365N	p.S365N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1665	-			365					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1094G>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801181	0.70567	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.90676	-2.71;-2.71;-2.71	4.32	4.32	0.51571	.	0.439796	0.25335	N	0.031403	D	0.91925	0.7443	L	0.36672	1.1	0.25029	N	0.991288	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	D	0.84802	0.0785	10	0.62326	D	0.03	-11.5295	12.6178	0.56586	0.0:1.0:0.0:0.0	.	365;365	Q8N4S1;Q14515	.;SPRL1_HUMAN	N	365;365;240;240	ENSP00000282470:S365N;ENSP00000414856:S365N;ENSP00000422903:S240N	ENSP00000282470:S365N	S	-	2	0	SPARCL1	88633882	0.993000	0.37304	1.000000	0.80357	0.727000	0.41649	0.960000	0.29253	2.689000	0.91719	0.655000	0.94253	AGC		0.478	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			72	272	0	0	0	1	0	72	272				
SLC18A3	6572	broad.mit.edu	37	10	50820002	50820002	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50820002G>A	ENST00000374115.3	+	1	1656	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	406					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACGCTCGCCTTCCTGGT	0.637																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1216-1218)Gcc>Acc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							46.0	42.0	43.0					10																	50820002		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820002G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1216G>A	10.37:g.50820002G>A	ENSP00000363229:p.Ala406Thr					CHAT_ENST00000339797.1_Intron	p.A406T	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1656	+			406					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1216G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108957	0.77096	.	.	ENSG00000187714	ENST00000374115	T	0.57907	0.37	5.11	4.2	0.49525	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061558	0.64402	U	0.000005	T	0.73621	0.3610	M	0.84683	2.71	0.48040	D	0.999572	D	0.76494	0.999	D	0.72982	0.979	T	0.78404	-0.2217	10	0.87932	D	0	-5.4998	13.2042	0.59787	0.077:0.0:0.923:0.0	.	406	Q16572	VACHT_HUMAN	T	406	ENSP00000363229:A406T	ENSP00000363229:A406T	A	+	1	0	SLC18A3	50490008	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.777000	0.99008	1.153000	0.42468	0.561000	0.74099	GCC		0.637	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		19	197	0	0	0	1	0	19	197				
GON4L	54856	broad.mit.edu	37	1	155746214	155746214	+	Missense_Mutation	SNP	G	G	A	rs140447805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155746214G>A	ENST00000368331.1	-	16	2198	c.2150C>T	c.(2149-2151)cCg>cTg	p.P717L	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	717					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTGGCCTCCGGATTGAGGTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18176	0.001		0.0	False		,,,				2504	0.0					ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2149-2151)cCg>cTg		gon-4-like (C. elegans)		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	139.0	137.0	138.0		2150,2150	3.0	0.0	1	dbSNP_134	138	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	GON4L	NM_001037533.1,NM_032292.4	98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	717/2241,717/1530	155746214	3,13003	2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155746214G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2150C>T	1.37:g.155746214G>A	ENSP00000357315:p.Pro717Leu					GON4L_ENST00000368331.1_Missense_Mutation_p.P717L|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L|GON4L_ENST00000471341.1_5'UTR	p.P717L			Q3T8J9	GON4L_HUMAN			16	2272	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		717					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.2150C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.303	0.613383	0.14066	0.0	3.49E-4	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11063	3.0;3.0;3.0;2.81	4.82	2.97	0.34412	.	0.400789	0.25006	N	0.033870	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.12013	0.005;0.002;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.0;0.001	T	0.43163	-0.9408	10	0.52906	T	0.07	.	5.8545	0.18712	0.1602:0.0:0.686:0.1538	.	717;717;717;717	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	717	ENSP00000396117:P717L;ENSP00000357315:P717L;ENSP00000271883:P717L;ENSP00000354322:P717L	ENSP00000271883:P717L	P	-	2	0	GON4L	154012838	0.784000	0.28713	0.006000	0.13384	0.072000	0.16883	1.749000	0.38319	0.666000	0.31087	0.586000	0.80456	CCG		0.428	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		72	247	0	0	0	1	0	72	247				
LHX6	26468	broad.mit.edu	37	9	124979498	124979498	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124979498G>A	ENST00000373755.2	-	4	552	c.444C>T	c.(442-444)cgC>cgT	p.R148R	LHX6_ENST00000373754.2_Silent_p.R148R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000394319.4_Silent_p.R177R|LHX6_ENST00000541397.2_Silent_p.R166R|LHX6_ENST00000340587.3_Silent_p.R177R	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	148	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						AGGCGTTGCCGCGAGCTCTCC	0.667																																						ENST00000394319.4																			0				endometrium(2)|kidney(1)|large_intestine(5)	8						c.(529-531)cgC>cgT		LIM homeobox 6							59.0	56.0	57.0					9																	124979498		2203	4300	6503	SO:0001819	synonymous_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124979498G>A	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.444C>T	9.37:g.124979498G>A						LHX6_ENST00000541397.2_Silent_p.R166R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000340587.3_Silent_p.R177R|LHX6_ENST00000373755.2_Silent_p.R148R|LHX6_ENST00000373754.2_Silent_p.R148R	p.R177R	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN			5	635	-			148			LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	c.531C>T	CCDS56583.1																																																																																				0.667	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		69	321	0	0	0	1	0	69	321				
MTIF3	219402	broad.mit.edu	37	13	28009581	28009581	+	IGR	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28009581T>C	ENST00000381116.1	-	0	1104				GTF3A_ENST00000470606.1_3'UTR|MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000381140.4_Silent_p.S315S			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TCAAAAAATCTCGTGAAAAAC	0.393																																						ENST00000381140.4																			0				breast(1)|lung(1)	2						c.(943-945)tcT>tcC		general transcription factor IIIA							71.0	61.0	64.0					13																	28009581		1568	3582	5150	SO:0001628	intergenic_variant	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28009581T>C	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009581T>C						GTF3A_ENST00000470606.1_3'UTR	p.S315S	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	9	1139	+		Lung SC(185;0.0156)	315					Q05BL8|Q5W0V0|Q86X68	Silent	SNP	ENST00000381116.1	37	c.945T>C	CCDS9322.1																																																																																				0.393	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		14	71	0	0	0	1	0	14	71				
DNAH9	1770	broad.mit.edu	37	17	11687764	11687764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11687764G>A	ENST00000262442.4	+	41	8037	c.7969G>A	c.(7969-7971)Gcc>Acc	p.A2657T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2657T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2657	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGCCCTCGCCTTCCACCA	0.502																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7969-7971)Gcc>Acc		dynein, axonemal, heavy chain 9							172.0	162.0	166.0					17																	11687764		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687764G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7969G>A	17.37:g.11687764G>A	ENSP00000262442:p.Ala2657Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.A2657T	p.A2657T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	8037	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2657			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7969G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	9.311	1.055534	0.19907	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.41758	0.99;0.99	5.56	0.599	0.17519	.	0.197317	0.45126	N	0.000395	T	0.24736	0.0600	L	0.38838	1.175	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.04961	-1.0915	10	0.19590	T	0.45	.	3.973	0.09462	0.4292:0.0:0.4033:0.1676	.	2657	Q9NYC9	DYH9_HUMAN	T	2657;2657;1239	ENSP00000262442:A2657T;ENSP00000414874:A2657T	ENSP00000262442:A2657T	A	+	1	0	DNAH9	11628489	0.041000	0.20044	0.972000	0.41901	0.532000	0.34746	1.208000	0.32345	0.313000	0.23062	-1.552000	0.00895	GCC		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		139	721	0	0	0	1	0	139	721				
PCSK1	5122	broad.mit.edu	37	5	95746599	95746599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95746599C>A	ENST00000311106.3	-	8	1211	c.974G>T	c.(973-975)aGc>aTc	p.S325I	PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	325	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTGTAGATGCTGTCTGTGTA	0.577																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(973-975)aGc>aTc		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						252.0	219.0	230.0					5																	95746599		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746599C>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.974G>T	5.37:g.95746599C>A	ENSP00000308024:p.Ser325Ile					CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I|PCSK1_ENST00000513085.1_Intron	p.S325I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1211	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	325			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.974G>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977431	0.92982	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89485	-2.52;-2.52	5.53	5.53	0.82687	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97406	0.9999	10	0.87932	D	0	-20.7793	19.0469	0.93025	0.0:1.0:0.0:0.0	.	325	P29120	NEC1_HUMAN	I	325;278	ENSP00000308024:S325I;ENSP00000421600:S278I	ENSP00000308024:S325I	S	-	2	0	PCSK1	95772355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.584000	0.87258	0.585000	0.79938	AGC		0.577	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		167	904	1	0	2.7625e-60	1	3.47358e-60	167	904				
AFF1	4299	broad.mit.edu	37	4	87968170	87968170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87968170G>A	ENST00000307808.6	+	3	882	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.P161P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	154					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCGGCCCACCGGACAGCCAGC	0.557																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(460-462)ccG>ccA		AF4/FMR2 family, member 1							77.0	76.0	77.0					4																	87968170		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968170G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.462G>A	4.37:g.87968170G>A						AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.P161P	p.P154P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	882	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	154					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.462G>A	CCDS3616.1																																																																																				0.557	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		35	385	0	0	0	1	0	35	385				
KDM6B	23135	broad.mit.edu	37	17	7754506	7754506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7754506G>A	ENST00000448097.2	+	14	4172	c.3841G>A	c.(3841-3843)Gca>Aca	p.A1281T	KDM6B_ENST00000254846.5_Missense_Mutation_p.A1281T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1281					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGCCAAGTACGCACAGTACCA	0.617																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3841-3843)Gca>Aca		lysine (K)-specific demethylase 6B							125.0	105.0	112.0					17																	7754506		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7754506G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3841G>A	17.37:g.7754506G>A	ENSP00000412513:p.Ala1281Thr					KDM6B_ENST00000448097.2_Missense_Mutation_p.A1281T	p.A1281T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			14	4230	+			1281					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3841G>A		.	.	.	.	.	.	.	.	.	.	G	19.99	3.928187	0.73327	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.79845	-1.31;-1.31	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	D	0.92249	0.5807	10	0.87932	D	0	-8.676	17.333	0.87271	0.0:0.0:1.0:0.0	.	1281;1281	O15054;O15054-1	KDM6B_HUMAN;.	T	1281	ENSP00000254846:A1281T;ENSP00000412513:A1281T	ENSP00000254846:A1281T	A	+	1	0	KDM6B	7695231	1.000000	0.71417	0.936000	0.37596	0.871000	0.50021	6.254000	0.72460	2.718000	0.92993	0.650000	0.86243	GCA		0.617	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		31	409	0	0	0	1	0	31	409				
REN	5972	broad.mit.edu	37	1	204128549	204128549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128549C>T	ENST00000272190.8	-	5	695	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	REN_ENST00000367195.2_Missense_Mutation_p.V223I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	223					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAAGAGAAGACGTCCTCTTTT	0.562																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(667-669)Gtc>Atc		renin	Aliskiren(DB01258)|Remikiren(DB00212)						112.0	102.0	106.0					1																	204128549		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204128549C>T	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.667G>A	1.37:g.204128549C>T	ENSP00000272190:p.Val223Ile					REN_ENST00000272190.8_Missense_Mutation_p.V223I	p.V223I			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	710	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		223					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.667G>A	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291027	0.23564	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.59906	0.23;0.23	5.35	4.44	0.53790	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.124071	0.56097	D	0.000033	T	0.52901	0.1763	L	0.31752	0.955	0.58432	D	0.999998	B	0.31949	0.348	P	0.45406	0.479	T	0.48375	-0.9041	10	0.25751	T	0.34	.	10.1333	0.42691	0.0:0.8451:0.0:0.1549	.	223	P00797	RENI_HUMAN	I	223;142;223	ENSP00000356163:V223I;ENSP00000272190:V223I	ENSP00000272190:V223I	V	-	1	0	REN	202395172	0.993000	0.37304	0.821000	0.32701	0.001000	0.01503	3.078000	0.50096	1.261000	0.44149	-0.300000	0.09419	GTC		0.562	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		85	310	0	0	0	1	0	85	310				
SDK1	221935	broad.mit.edu	37	7	4011159	4011159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4011159G>A	ENST00000404826.2	+	12	1915	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	SDK1_ENST00000389531.3_Silent_p.T592T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	592	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACGGCCACGCTGCACTGTG	0.517																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1774-1776)acG>acA		sidekick cell adhesion molecule 1							88.0	73.0	78.0					7																	4011159		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4011159G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1776G>A	7.37:g.4011159G>A						SDK1_ENST00000389531.3_Silent_p.T592T	p.T592T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	12	1915	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	592			Ig-like C2-type 6.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.1776G>A	CCDS34590.1																																																																																				0.517	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		11	112	0	0	0	1	0	11	112				
FZD9	8326	broad.mit.edu	37	7	72849501	72849501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849501C>A	ENST00000344575.3	+	1	1393	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	388					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCTTTGCTACGTGGCCA	0.642																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1162-1164)tgC>tgA		frizzled family receptor 9							47.0	44.0	45.0					7																	72849501		2203	4300	6503	SO:0001587	stop_gained	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849501C>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1164C>A	7.37:g.72849501C>A	ENSP00000345785:p.Cys388*						p.C388*	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1393	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	388						Nonsense_Mutation	SNP	ENST00000344575.3	37	c.1164C>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	36	5.774497	0.96922	.	.	ENSG00000188763	ENST00000344575	.	.	.	4.46	2.59	0.31030	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2442	0.37515	0.0:0.8161:0.0:0.1839	.	.	.	.	X	388	.	ENSP00000345785:C388X	C	+	3	2	FZD9	72487437	1.000000	0.71417	0.973000	0.42090	0.711000	0.40976	1.755000	0.38379	0.403000	0.25479	0.563000	0.77884	TGC		0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			30	301	1	0	4.02929e-09	1	4.23443e-09	30	301				
GLB1L2	89944	broad.mit.edu	37	11	134244527	134244527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134244527G>A	ENST00000535456.2	+	18	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	580					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTCATCAATGGCCAGAACCTT	0.547																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1738-1740)gGc>gAc		galactosidase, beta 1-like 2							148.0	148.0	148.0					11																	134244527		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134244527G>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1739G>A	11.37:g.134244527G>A	ENSP00000444628:p.Gly580Asp					GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR	p.G580D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	18	1927	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	580					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1739G>A	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040103|4.040103	0.75732|0.75732	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.99507|.	-6.04;-6.04;-6.04|.	5.61|5.61	3.72|3.72	0.42706|0.42706	Galactose-binding domain-like (1);|.	0.164458|.	0.53938|.	N|.	0.000051|.	T|.	0.75064|.	0.3799|.	M|M	0.83774|0.83774	2.66|2.66	0.54753|0.54753	D|D	0.999988|0.999988	P|.	0.52842|.	0.956|.	P|.	0.56474|.	0.799|.	T|.	0.75648|.	-0.3245|.	10|.	0.66056|.	D|.	0.02|.	-6.4414|-6.4414	12.2901|12.2901	0.54812|0.54812	0.141:0.0:0.859:0.0|0.141:0.0:0.859:0.0	.|.	580|.	Q8IW92|.	GLBL2_HUMAN|.	D|X	580|518	ENSP00000344659:G580D;ENSP00000444628:G580D;ENSP00000374531:G580D|.	ENSP00000344659:G580D|.	G|W	+|+	2|3	0|0	GLB1L2|GLB1L2	133749737|133749737	1.000000|1.000000	0.71417|0.71417	0.133000|0.133000	0.22050|0.22050	0.995000|0.995000	0.86356|0.86356	4.583000|4.583000	0.60964|0.60964	0.705000|0.705000	0.31890|0.31890	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.547	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		111	574	0	0	0	1	0	111	574				
ABCC9	10060	broad.mit.edu	37	12	21998636	21998636	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21998636G>A	ENST00000261201.4	-	24	2996	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.F999F|ABCC9_ENST00000345162.2_Silent_p.F963F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	999	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAGCTTAGAGAAAATCATCA	0.448																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2995-2997)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						141.0	119.0	127.0					12																	21998636		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21998636G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2997C>T	12.37:g.21998636G>A						ABCC9_ENST00000261201.4_Silent_p.F999F|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.F963F	p.F999F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			24	2996	-			999			ABC transmembrane type-1 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.2997C>T	CCDS8694.1																																																																																				0.448	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		35	207	0	0	0	1	0	35	207				
BAI3	577	broad.mit.edu	37	6	69949055	69949055	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949055C>T	ENST00000370598.1	+	20	3572	c.2751C>T	c.(2749-2751)ttC>ttT	p.F917F	BAI3_ENST00000238918.8_Silent_p.F123F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	917					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TAATTAACTTCTGCCTGTCTA	0.348																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2749-2751)ttC>ttT		brain-specific angiogenesis inhibitor 3							185.0	178.0	181.0					6																	69949055		2203	4297	6500	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949055C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2751C>T	6.37:g.69949055C>T						BAI3_ENST00000238918.8_Silent_p.F123F	p.F917F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			20	3572	+		all_lung(197;0.212)	917					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2751C>T	CCDS4968.1																																																																																				0.348	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			10	617	0	0	0	1	0	10	617				
CNTRL	11064	broad.mit.edu	37	9	123906201	123906201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123906201A>C	ENST00000373855.1	+	20	3152	c.2892A>C	c.(2890-2892)aaA>aaC	p.K964N	CNTRL_ENST00000238341.5_Missense_Mutation_p.K964N|CNTRL_ENST00000373850.1_Missense_Mutation_p.K412N|CNTRL_ENST00000373847.1_Missense_Mutation_p.K412N			Q7Z7A1	CNTRL_HUMAN	centriolin	964					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGATGCCAAATCTCAGGAGC	0.393																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(2890-2892)aaA>aaC		centriolin							31.0	34.0	33.0					9																	123906201		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123906201A>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2892A>C	9.37:g.123906201A>C	ENSP00000362962:p.Lys964Asn					CNTRL_ENST00000373847.1_Missense_Mutation_p.K412N|CNTRL_ENST00000238341.5_Missense_Mutation_p.K964N|CNTRL_ENST00000373850.1_Missense_Mutation_p.K412N	p.K964N			Q7Z7A1	CNTRL_HUMAN			20	3152	+			964					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.2892A>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990236	0.54041	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.30714	1.52;1.52;1.52;2.53	5.96	-0.306	0.12780	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.22851	N	0.998659	P;B	0.35272	0.493;0.361	B;B	0.35607	0.206;0.102	T	0.20672	-1.0268	9	0.46703	T	0.11	.	9.4871	0.38937	0.4888:0.0:0.5112:0.0	.	964;964	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	N	964;964;964;446;412;412	ENSP00000362962:K964N;ENSP00000238341:K964N;ENSP00000362956:K412N;ENSP00000362953:K412N	ENSP00000238341:K964N	K	+	3	2	CNTRL	122946022	0.997000	0.39634	0.994000	0.49952	0.998000	0.95712	1.085000	0.30840	0.140000	0.18849	0.533000	0.62120	AAA		0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		33	232	0	0	0	1	0	33	232				
LPIN1	23175	broad.mit.edu	37	2	11922524	11922524	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11922524G>T	ENST00000256720.2	+	7	1140	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D|LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	349					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGACCTGGAGACCTTAGGAG	0.522																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1045-1047)gaG>gaT		lipin 1							86.0	87.0	87.0					2																	11922524		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11922524G>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1047G>T	2.37:g.11922524G>T	ENSP00000256720:p.Glu349Asp					LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D	p.E349D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	7	1140	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		349					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1047G>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269071	0.23221	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.5	5.5	0.81552	.	0.518813	0.22091	N	0.064743	T	0.65015	0.2651	L	0.58810	1.83	0.80722	D	1	B;B;B	0.16166	0.016;0.002;0.011	B;B;B	0.17979	0.02;0.006;0.019	T	0.58399	-0.7643	10	0.25106	T	0.35	-25.3093	11.3028	0.49316	0.0708:0.1284:0.8008:0.0	.	434;349;391	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	D	434;391;391;355;349;79	ENSP00000397908:E434D;ENSP00000379405:E391D;ENSP00000379406:E391D;ENSP00000401522:E355D;ENSP00000256720:E349D;ENSP00000379404:E79D	ENSP00000256720:E349D	E	+	3	2	LPIN1	11839975	1.000000	0.71417	0.847000	0.33407	0.018000	0.09664	3.696000	0.54757	2.757000	0.94681	0.655000	0.94253	GAG		0.522	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		86	272	1	0	2.93434e-44	1	3.58945e-44	86	272				
MRPL48	51642	broad.mit.edu	37	11	73555945	73555945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73555945G>A	ENST00000310614.7	+	5	951	c.295G>A	c.(295-297)Gat>Aat	p.D99N	MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000535529.1_Missense_Mutation_p.D81N|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000542303.1_Intron	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	99						mitochondrial ribosome (GO:0005761)				kidney(1)	1						GACTGCATATGATATGACCCT	0.418																																						ENST00000535529.1																			0				kidney(1)	1						c.(241-243)Gat>Aat		mitochondrial ribosomal protein L48							97.0	90.0	92.0					11																	73555945		1856	4088	5944	SO:0001583	missense	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73555945G>A	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.295G>A	11.37:g.73555945G>A	ENSP00000308717:p.Asp99Asn					MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_Missense_Mutation_p.D99N|MRPL48_ENST00000411840.2_5'UTR	p.D81N			Q96GC5	RM48_HUMAN			6	453	+			99					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	37	c.241G>A	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808917	0.90707	.	.	ENSG00000175581	ENST00000310614;ENST00000535529	T	0.64085	-0.08	5.53	5.53	0.82687	.	0.044994	0.85682	D	0.000000	T	0.73281	0.3567	M	0.72353	2.195	0.58432	D	0.999995	D;D	0.63880	0.993;0.991	P;P	0.61477	0.889;0.831	T	0.74453	-0.3660	10	0.51188	T	0.08	-13.9634	10.4017	0.44233	0.0889:0.0:0.9111:0.0	.	81;99	B4DN34;Q96GC5	.;RM48_HUMAN	N	99;81	ENSP00000308717:D99N	ENSP00000308717:D99N	D	+	1	0	MRPL48	73233593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.168000	0.71908	2.600000	0.87896	0.591000	0.81541	GAT		0.418	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		56	216	0	0	0	1	0	56	216				
FAM155B	27112	broad.mit.edu	37	X	68725452	68725452	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68725452G>A	ENST00000252338.4	+	1	369	c.327G>A	c.(325-327)gcG>gcA	p.A109A	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	109						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						agcccagcgcgcccccAGGCA	0.816																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(325-327)gcG>gcA		family with sequence similarity 155, member B							3.0	4.0	4.0					X																	68725452		1290	2856	4146	SO:0001819	synonymous_variant	27112					integral to membrane		g.chrX:68725452G>A	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.327G>A	X.37:g.68725452G>A							p.A109A	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	369	+			109					B1ALV6|B9EGK1|D3DVU1	Silent	SNP	ENST00000252338.4	37	c.327G>A	CCDS35317.1																																																																																				0.816	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		11	40	0	0	0	1	0	11	40				
GPRC5C	55890	broad.mit.edu	37	17	72436648	72436648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72436648G>A	ENST00000392627.1	+	2	1994	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	245					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGGGTCTTTGTGCTCCTCAC	0.607																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(868-870)Gtg>Atg		G protein-coupled receptor, family C, group 5, member C							79.0	56.0	64.0					17																	72436648		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436648G>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.868G>A	17.37:g.72436648G>A	ENSP00000376403:p.Val290Met					GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M	p.V290M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	1994	+			245					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.868G>A	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189503	0.38707	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.88975	-2.45	5.79	3.69	0.42338	GPCR, family 3, C-terminal (2);	0.299751	0.34268	N	0.004116	D	0.88633	0.6489	L	0.48642	1.525	0.37849	D	0.929327	P;P;P	0.42620	0.785;0.785;0.745	P;P;P	0.55345	0.774;0.675;0.664	D	0.88618	0.3161	10	0.87932	D	0	-17.0307	4.3277	0.11048	0.2478:0.174:0.5783:0.0	.	245;245;257	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	M	245;290;257;245	ENSP00000376405:V257M	ENSP00000340595:V290M	V	+	1	0	GPRC5C	69948243	0.968000	0.33430	0.997000	0.53966	0.348000	0.29142	1.942000	0.40243	1.454000	0.47793	0.561000	0.74099	GTG		0.607	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			24	264	0	0	0	1	0	24	264				
MOV10	4343	broad.mit.edu	37	1	113242367	113242367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242367C>T	ENST00000413052.2	+	18	3034	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	MOV10_ENST00000369644.1_Nonsense_Mutation_p.R826*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	882					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTCCACCGTGCGAAGCAGCCA	0.552																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2476-2478)Cga>Tga		Mov10, Moloney leukemia virus 10, homolog (mouse)							151.0	157.0	155.0					1																	113242367		2203	4300	6503	SO:0001587	stop_gained	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113242367C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2644C>T	1.37:g.113242367C>T	ENSP00000399797:p.Arg882*					MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Nonsense_Mutation_p.R882*	p.R826*			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	19	3505	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	882					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Nonsense_Mutation	SNP	ENST00000413052.2	37	c.2476C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	48	14.608624	0.99803	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	5.1	3.18	0.36537	.	0.057790	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9439	9.991	0.41872	0.0:0.7847:0.1389:0.0764	.	.	.	.	X	882;882;826;882;820	.	ENSP00000350028:R882X	R	+	1	2	MOV10	113043890	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	4.821000	0.62679	0.524000	0.28502	0.467000	0.42956	CGA		0.552	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		95	818	0	0	0	1	0	95	818				
TMEM198	130612	broad.mit.edu	37	2	220412405	220412405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412405G>A	ENST00000344458.2	+	4	929	c.344G>A	c.(343-345)aGc>aAc	p.S115N	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	115	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTAGTGCGCAGCGTGGGCCTC	0.701																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(343-345)aGc>aAc		transmembrane protein 198							54.0	54.0	54.0					2																	220412405		2202	4298	6500	SO:0001583	missense	130612					integral to membrane		g.chr2:220412405G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.344G>A	2.37:g.220412405G>A	ENSP00000343507:p.Ser115Asn					TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N	p.S115N			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	929	+		Renal(207;0.0376)	115			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.344G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743012	0.69418	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.084192	0.85682	D	0.000000	T	0.74512	0.3726	M	0.79475	2.455	0.43777	D	0.996302	D	0.59767	0.986	P	0.59012	0.85	T	0.73487	-0.3967	9	0.22706	T	0.39	-15.4832	16.3706	0.83357	0.0:0.0:1.0:0.0	.	115	Q66K66	TM198_HUMAN	N	115	.	ENSP00000343507:S115N	S	+	2	0	TMEM198	220120649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.496000	0.81526	2.253000	0.74438	0.591000	0.81541	AGC		0.701	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		110	559	0	0	0	1	0	110	559				
EPB41L1	2036	broad.mit.edu	37	20	34782221	34782221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34782221G>A	ENST00000338074.2	+	12	1549	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	463					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGTCTGGGGGGCAACGGTCA	0.602																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1387-1389)gGg>gAg		erythrocyte membrane protein band 4.1-like 1							70.0	49.0	56.0					20																	34782221		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34782221G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1388G>A	20.37:g.34782221G>A	ENSP00000337168:p.Gly463Glu					EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E	p.G463E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			12	1549	+	Breast(12;0.0239)		463					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1388G>A	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.968982|1.968982	0.34754|0.34754	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941|ENST00000451082	D;D;D;D;D;D|.	0.82984|.	-1.67;-1.61;-1.67;-1.64;-1.64;-1.64|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	1.320840|1.320840	0.04653|0.04653	N|N	0.407417|0.407417	T|T	0.58293|0.58293	0.2112|0.2112	N|N	0.14661|0.14661	0.345|0.345	0.44736|0.44736	D|D	0.997732|0.997732	B;B;B;B;P;B|.	0.37423|.	0.006;0.304;0.022;0.002;0.594;0.001|.	B;B;B;B;B;B|.	0.31614|.	0.004;0.036;0.022;0.005;0.133;0.003|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|7	0.02654|0.46703	T|T	1|0.11	.|.	18.3778|18.3778	0.90441|0.90441	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	463;463;432;366;366;401|.	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	.;E41L1_HUMAN;.;.;.;.|.	E|S	401;366;463;366;401;432;37;463;463|41	ENSP00000202028:G401E;ENSP00000363061:G366E;ENSP00000399214:G401E;ENSP00000363057:G432E;ENSP00000337168:G463E;ENSP00000363052:G463E|.	ENSP00000202028:G401E|ENSP00000406464:G41S	G|G	+|+	2|1	0|0	EPB41L1|EPB41L1	34245635|34245635	0.991000|0.991000	0.36638|0.36638	0.091000|0.091000	0.20842|0.20842	0.909000|0.909000	0.53808|0.53808	5.449000|5.449000	0.66619|0.66619	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GGG|GGC		0.602	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		39	152	0	0	0	1	0	39	152				
ACAD9	28976	broad.mit.edu	37	3	128621399	128621399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128621399G>A	ENST00000308982.7	+	9	967	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	296						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCAGGTGGCCATGAACAT	0.607																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(886-888)Gcc>Acc		acyl-CoA dehydrogenase family, member 9							101.0	96.0	98.0					3																	128621399		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128621399G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.886G>A	3.37:g.128621399G>A	ENSP00000312618:p.Ala296Thr					ACAD9_ENST00000511526.1_3'UTR	p.A296T	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			9	967	+			296					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.886G>A	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.578975	0.96565	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.96913	-4.17	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99533	1.0961	10	0.87932	D	0	.	16.1964	0.82029	0.0:0.0:1.0:0.0	.	173;246;296	Q9H9W4;Q59FN3;Q9H845	.;.;ACAD9_HUMAN	T	296;163	ENSP00000312618:A296T	ENSP00000312618:A296T	A	+	1	0	ACAD9	130104089	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.018000	0.93657	2.412000	0.81896	0.655000	0.94253	GCC		0.607	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		71	331	0	0	0	1	0	71	331				
THOP1	7064	broad.mit.edu	37	19	2790603	2790603	+	Silent	SNP	G	G	A	rs368257927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2790603G>A	ENST00000307741.6	+	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	67					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCAAGGCGCTGGCCGATG	0.652																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(199-201)gcG>gcA		thimet oligopeptidase 1		G		1,4405	2.1+/-5.4	0,1,2202	70.0	57.0	61.0		201	-7.6	1.0	19		61	0,8600		0,0,4300	no	coding-synonymous	THOP1	NM_003249.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		67/690	2790603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2790603G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.201G>A	19.37:g.2790603G>A							p.A67A	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	404	+			67					B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	37	c.201G>A	CCDS12095.1																																																																																				0.652	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			26	234	0	0	0	1	0	26	234				
ZNF566	84924	broad.mit.edu	37	19	36940724	36940724	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36940724G>A	ENST00000434377.2	-	5	493	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	ZNF566_ENST00000493391.1_Missense_Mutation_p.H34Y|ZNF566_ENST00000392170.2_Missense_Mutation_p.H139Y|ZNF566_ENST00000454319.1_Missense_Mutation_p.H139Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H138Y	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGATTGAAATGTCCCCCCTGA	0.398																																						ENST00000454319.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(415-417)Cat>Tat		zinc finger protein 566							163.0	162.0	162.0					19																	36940724		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940724G>A	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.412C>T	19.37:g.36940724G>A	ENSP00000415520:p.His138Tyr					ZNF566_ENST00000392170.2_Missense_Mutation_p.H139Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H138Y|ZNF566_ENST00000434377.2_Missense_Mutation_p.H138Y|ZNF566_ENST00000493391.1_Missense_Mutation_p.H34Y	p.H139Y	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN			5	549	-	Esophageal squamous(110;0.162)		138					B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.415C>T	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.848285	0.00067	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.05717	3.54;3.54;3.54;3.54;3.4;6.02	3.72	2.66	0.31614	.	1.022170	0.07830	N	0.961247	T	0.05181	0.0138	L	0.39514	1.22	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.001;0.004	T	0.46762	-0.9168	10	0.02654	T	1	.	6.6291	0.22847	0.0:0.2007:0.5923:0.207	.	139;138	B7ZL95;Q969W8	.;ZN566_HUMAN	Y	139;138;139;138;138;139	ENSP00000394207:H139Y;ENSP00000415520:H138Y;ENSP00000376010:H139Y;ENSP00000401259:H138Y;ENSP00000411526:H138Y;ENSP00000400651:H139Y	ENSP00000376010:H139Y	H	-	1	0	ZNF566	41632564	0.000000	0.05858	0.035000	0.18076	0.288000	0.27193	0.123000	0.15708	1.117000	0.41842	0.555000	0.69702	CAT		0.398	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		15	984	0	0	0	1	0	15	984				
LRP4	4038	broad.mit.edu	37	11	46914620	46914620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46914620C>A	ENST00000378623.1	-	13	1843	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	534					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACCTCAATCCTCGAGGTGCC	0.577																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1600-1602)aGg>aTg		low density lipoprotein receptor-related protein 4							51.0	46.0	48.0					11																	46914620		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46914620C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1601G>T	11.37:g.46914620C>A	ENSP00000367888:p.Arg534Met						p.R534M	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	13	1843	-			534					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1601G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047028	0.93740	.	.	ENSG00000134569	ENST00000378623	D	0.95980	-3.87	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98370	1.0553	10	0.72032	D	0.01	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	534	O75096	LRP4_HUMAN	M	534	ENSP00000367888:R534M	ENSP00000367888:R534M	R	-	2	0	LRP4	46871196	1.000000	0.71417	0.974000	0.42286	0.902000	0.53008	7.487000	0.81328	2.707000	0.92482	0.561000	0.74099	AGG		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		32	145	1	0	3.76114e-14	1	4.07806e-14	32	145				
IL6ST	3572	broad.mit.edu	37	5	55260120	55260120	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55260120T>C	ENST00000381298.2	-	6	824	c.512A>G	c.(511-513)gAt>gGt	p.D171G	IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000577363.1_5'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	171	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTGCAATCAGCAAACTT	0.358			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(511-513)gAt>gGt		interleukin 6 signal transducer (gp130, oncostatin M receptor)							85.0	77.0	79.0					5																	55260120		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55260120T>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.512A>G	5.37:g.55260120T>C	ENSP00000370698:p.Asp171Gly					IL6ST_ENST00000577363.1_5'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G	p.D171G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			6	824	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	171			Fibronectin type-III 1.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.512A>G	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858626	0.51376	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.65	5.65	0.86999	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.547899	0.20309	N	0.094861	D	0.88599	0.6480	M	0.66939	2.045	0.30165	N	0.801841	D;P;P	0.58970	0.984;0.955;0.907	P;P;P	0.61477	0.889;0.754;0.677	D	0.85066	0.0937	10	0.27082	T	0.32	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	171;171;171	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	G	171	ENSP00000370698:D171G;ENSP00000338799:D171G;ENSP00000370694:D171G;ENSP00000370687:D171G;ENSP00000444456:D171G;ENSP00000435399:D171G	ENSP00000338799:D171G	D	-	2	0	IL6ST	55295877	1.000000	0.71417	0.959000	0.39883	0.079000	0.17450	4.080000	0.57620	2.371000	0.80710	0.533000	0.62120	GAT		0.358	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		38	179	0	0	0	1	0	38	179				
SLC38A8	146167	broad.mit.edu	37	16	84050168	84050168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84050168C>T	ENST00000299709.3	-	8	1117	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	373					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCGATGATGCTGACGATCTC	0.587																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1117-1119)aGc>aAc		solute carrier family 38, member 8							91.0	76.0	81.0					16																	84050168		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050168C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1118G>A	16.37:g.84050168C>T	ENSP00000299709:p.Ser373Asn						p.S373N	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			8	1117	-			373						Missense_Mutation	SNP	ENST00000299709.3	37	c.1118G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522115	0.13066	.	.	ENSG00000166558	ENST00000299709	T	0.02890	4.12	4.47	2.35	0.29111	.	0.922945	0.09335	N	0.816306	T	0.04092	0.0114	M	0.62723	1.935	0.09310	N	1	B	0.23990	0.095	B	0.22601	0.04	T	0.33137	-0.9880	10	0.48119	T	0.1	.	4.7346	0.12982	0.1527:0.6074:0.149:0.0909	.	373	A6NNN8	S38A8_HUMAN	N	373	ENSP00000299709:S373N	ENSP00000299709:S373N	S	-	2	0	SLC38A8	82607669	0.002000	0.14202	0.300000	0.25030	0.020000	0.10135	0.893000	0.28336	2.038000	0.60285	0.478000	0.44815	AGC		0.587	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		51	265	0	0	0	1	0	51	265				
AMICA1	120425	broad.mit.edu	37	11	118068807	118068807	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118068807C>A	ENST00000356289.5	-	8	1085		c.e8-1		AMICA1_ENST00000526620.1_Splice_Site|AMICA1_ENST00000533261.1_Splice_Site|AMICA1_ENST00000292067.7_Splice_Site	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1						blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATTCACTGAACTGCAAGACAT	0.443											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.e7-1		adhesion molecule, interacts with CXADR antigen 1							146.0	133.0	137.0					11																	118068807		2200	4296	6496	SO:0001630	splice_region_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118068807C>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.912-1G>T	11.37:g.118068807C>A			OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	AMICA1_ENST00000533261.1_Splice_Site|AMICA1_ENST00000356289.5_Splice_Site|AMICA1_ENST00000526620.1_Splice_Site		NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1323	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)						B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Splice_Site	SNP	ENST00000356289.5	37		CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880212	0.33162	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9351	0.52868	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMICA1	117574017	0.983000	0.35010	0.958000	0.39756	0.021000	0.10359	3.018000	0.49625	2.527000	0.85204	0.650000	0.86243	.		0.443	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	Intron	96	427	1	0	1.13762e-57	1	1.42504e-57	96	427				
CLIP3	25999	broad.mit.edu	37	19	36517509	36517509	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517509G>T	ENST00000360535.4	-	5	768	c.541C>A	c.(541-543)Ctg>Atg	p.L181M	CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	181					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCACCCTTCAGCAGCACACGC	0.677																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(541-543)Ctg>Atg		CAP-GLY domain containing linker protein 3							54.0	48.0	50.0					19																	36517509		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36517509G>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.541C>A	19.37:g.36517509G>T	ENSP00000353732:p.Leu181Met					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M	p.L181M	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	768	-	Esophageal squamous(110;0.162)		181					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.541C>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160054	0.78226	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.72505	-0.66	4.59	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.83459	0.5259	M	0.87456	2.885	0.49687	D	0.999814	D	0.76494	0.999	D	0.87578	0.998	D	0.84463	0.0595	10	0.54805	T	0.06	-9.9424	8.5079	0.33199	0.1034:0.0:0.8966:0.0	.	181	Q96DZ5	CLIP3_HUMAN	M	181;63;157	ENSP00000353732:L181M	ENSP00000353732:L181M	L	-	1	2	CLIP3	41209349	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.996000	0.49449	2.382000	0.81193	0.455000	0.32223	CTG		0.677	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		30	196	1	0	9.93527e-08	1	1.03436e-07	30	196				
KLHL20	27252	broad.mit.edu	37	1	173722355	173722355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173722355C>T	ENST00000209884.4	+	5	896	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	KLHL20_ENST00000546011.1_Silent_p.L65L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	254	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CTCATAGGTGCTGCAGCATGT	0.428																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(760-762)Ctg>Ttg		kelch-like family member 20							76.0	72.0	74.0					1																	173722355		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173722355C>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.760C>T	1.37:g.173722355C>T						KLHL20_ENST00000546011.1_Silent_p.L65L	p.L254L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			5	896	+			254			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.760C>T	CCDS1310.1																																																																																				0.428	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		24	171	0	0	0	1	0	24	171				
OTP	23440	broad.mit.edu	37	5	76926430	76926430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76926430C>T	ENST00000306422.3	-	3	1775	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	213	Poly-Ala.				forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCAGGCATGGCGGCCGCCGCC	0.751																																						ENST00000306422.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13						c.(637-639)Gcc>Acc		orthopedia homeobox							3.0	4.0	3.0					5																	76926430		1548	3330	4878	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76926430C>T		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.637G>A	5.37:g.76926430C>T	ENSP00000302814:p.Ala213Thr						p.A213T	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	3	1775	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	213			Poly-Ala.			Missense_Mutation	SNP	ENST00000306422.3	37	c.637G>A	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404441	0.62288	.	.	ENSG00000171540	ENST00000306422	D	0.92249	-3.0	3.62	3.62	0.41486	.	0.138675	0.47093	D	0.000256	D	0.82518	0.5054	L	0.29908	0.895	0.35238	D	0.777562	P	0.44734	0.842	B	0.26310	0.068	D	0.85458	0.1165	10	0.20046	T	0.44	.	15.0675	0.72008	0.0:1.0:0.0:0.0	.	213	Q5XKR4	OTP_HUMAN	T	213	ENSP00000302814:A213T	ENSP00000302814:A213T	A	-	1	0	OTP	76962186	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.032000	0.41127	1.846000	0.53633	0.436000	0.28706	GCC		0.751	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			7	34	0	0	0	1	0	7	34				
USP32	84669	broad.mit.edu	37	17	58259106	58259106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58259106G>T	ENST00000300896.4	-	32	4321	c.4127C>A	c.(4126-4128)tCt>tAt	p.S1376Y	USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1376	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGAAGAAGGAGAACCTGTGAA	0.483																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4126-4128)tCt>tAt		ubiquitin specific peptidase 32							15.0	17.0	17.0					17																	58259106		2121	4240	6361	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58259106G>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4127C>A	17.37:g.58259106G>T	ENSP00000300896:p.Ser1376Tyr					USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	p.S1376Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		32	4321	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1376					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4127C>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331647	0.60853	.	.	ENSG00000170832	ENST00000300896	T	0.54675	0.56	5.73	5.73	0.89815	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053759	0.85682	D	0.000000	T	0.61825	0.2378	L	0.29908	0.895	0.80722	D	1	D	0.59767	0.986	P	0.62184	0.899	T	0.63278	-0.6673	10	0.72032	D	0.01	.	19.2507	0.93923	0.0:0.0:1.0:0.0	.	1376	Q8NFA0	UBP32_HUMAN	Y	1376	ENSP00000300896:S1376Y	ENSP00000300896:S1376Y	S	-	2	0	USP32	55613888	1.000000	0.71417	0.993000	0.49108	0.220000	0.24768	8.998000	0.93550	2.868000	0.98415	0.555000	0.69702	TCT		0.483	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		33	153	1	0	7.53189e-24	1	8.58305e-24	33	153				
FZD3	7976	broad.mit.edu	37	8	28385002	28385002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385002C>T	ENST00000240093.3	+	5	1203	c.725C>T	c.(724-726)gCa>gTa	p.A242V	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.A242V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	242					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATATTTTATGCAGTCTGCTAC	0.368																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(724-726)gCa>gTa		frizzled family receptor 3							99.0	101.0	101.0					8																	28385002		2202	4300	6502	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385002C>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.725C>T	8.37:g.28385002C>T	ENSP00000240093:p.Ala242Val					FZD3_ENST00000537916.1_Missense_Mutation_p.A242V	p.A242V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1203	+		Ovarian(32;2.06e-05)	242					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.725C>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480194	0.84747	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.82893	-1.66;-1.66	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.90885	0.7136	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91908	0.5537	10	0.87932	D	0	.	17.8224	0.88654	0.0:1.0:0.0:0.0	.	242	Q9NPG1	FZD3_HUMAN	V	242	ENSP00000437489:A242V;ENSP00000240093:A242V	ENSP00000240093:A242V	A	+	2	0	FZD3	28440921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.438000	0.82558	0.655000	0.94253	GCA		0.368	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		94	493	0	0	0	1	0	94	493				
ATP2C1	27032	broad.mit.edu	37	3	130675022	130675022	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130675022A>C	ENST00000510168.1	+	11	1381	c.831A>C	c.(829-831)atA>atC	p.I277I	ATP2C1_ENST00000428331.2_Splice_Site_p.I277I|ATP2C1_ENST00000533801.2_Splice_Site_p.I272I|ATP2C1_ENST00000508532.1_Splice_Site_p.I277I|ATP2C1_ENST00000359644.3_Splice_Site_p.I277I|ATP2C1_ENST00000504948.1_Splice_Site_p.I261I|ATP2C1_ENST00000504381.1_Splice_Site_p.I222I|ATP2C1_ENST00000393221.4_Splice_Site_p.I311I|ATP2C1_ENST00000505330.1_Splice_Site_p.I261I|ATP2C1_ENST00000513801.1_Splice_Site_p.I261I|ATP2C1_ENST00000422190.2_Splice_Site_p.I277I|ATP2C1_ENST00000507488.2_Splice_Site_p.I261I|ATP2C1_ENST00000328560.8_Splice_Site_p.I277I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	277					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGGTATAATAGGTAAGAGAA	0.338									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.e11+1		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						68.0	63.0	65.0					3																	130675022		2203	4300	6503	SO:0001630	splice_region_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130675022A>C	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.832+1A>C	3.37:g.130675022A>C						ATP2C1_ENST00000393221.4_Splice_Site_p.I311_splice|ATP2C1_ENST00000504381.1_Splice_Site_p.I222_splice|ATP2C1_ENST00000359644.3_Splice_Site_p.I277_splice|ATP2C1_ENST00000504948.1_Splice_Site_p.I261_splice|ATP2C1_ENST00000508532.1_Splice_Site_p.I277_splice|ATP2C1_ENST00000422190.2_Splice_Site_p.I277_splice|ATP2C1_ENST00000505330.1_Splice_Site_p.I261_splice|ATP2C1_ENST00000328560.8_Splice_Site_p.I277_splice|ATP2C1_ENST00000513801.1_Splice_Site_p.I261_splice|ATP2C1_ENST00000533801.2_Splice_Site_p.I272_splice|ATP2C1_ENST00000507488.2_Splice_Site_p.I261_splice|ATP2C1_ENST00000428331.2_Splice_Site_p.I277_splice	p.I277_splice			P98194	AT2C1_HUMAN			11	1381	+			277					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Splice_Site	SNP	ENST00000510168.1	37	c.832_splice	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578922	0.46006	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9621	0.53015	0.8702:0.0:0.0:0.1298	.	.	.	.	S	231	.	.	X	+	2	0	ATP2C1	132157712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.428000	0.34892	2.250000	0.74265	0.533000	0.62120	TAG		0.338	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	Silent	52	170	0	0	0	1	0	52	170				
MAST4	375449	broad.mit.edu	37	5	66432472	66432472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66432472C>T	ENST00000403625.2	+	19	2769	c.2474C>T	c.(2473-2475)cCc>cTc	p.P825L	MAST4_ENST00000403666.1_Missense_Mutation_p.P636L|MAST4_ENST00000404260.3_Missense_Mutation_p.P828L|MAST4_ENST00000405643.1_Missense_Mutation_p.P646L|MAST4_ENST00000261569.7_Missense_Mutation_p.P631L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	828	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGCAGAATCCCCTGGAGAGG	0.458																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(2482-2484)cCc>cTc		microtubule associated serine/threonine kinase family member 4							47.0	46.0	47.0					5																	66432472		1861	4101	5962	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66432472C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2474C>T	5.37:g.66432472C>T	ENSP00000385727:p.Pro825Leu					MAST4_ENST00000405643.1_Missense_Mutation_p.P646L|MAST4_ENST00000403625.2_Missense_Mutation_p.P825L|MAST4_ENST00000261569.7_Missense_Mutation_p.P631L|MAST4_ENST00000403666.1_Missense_Mutation_p.P636L	p.P828L			O15021	MAST4_HUMAN		Lung(70;0.011)	19	2791	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	828			Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.2483C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361532	0.95877	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	H	0.95114	3.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.99;0.999;0.997;0.986	T	0.81395	-0.0952	10	0.87932	D	0	-25.2234	20.0784	0.97758	0.0:1.0:0.0:0.0	.	646;828;631;636	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	L	828;825;636;646;646;631;631	ENSP00000385048:P828L;ENSP00000385727:P825L;ENSP00000384313:P636L;ENSP00000384099:P646L;ENSP00000261569:P631L	ENSP00000261569:P631L	P	+	2	0	MAST4	66468228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.736000	0.93811	0.655000	0.94253	CCC		0.458	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			8	47	0	0	0	1	0	8	47				
PMM2	5373	broad.mit.edu	37	16	8900240	8900240	+	Missense_Mutation	SNP	C	C	T	rs200503569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8900240C>T	ENST00000268261.4	+	4	389	c.323C>T	c.(322-324)gCg>gTg	p.A108V	PMM2_ENST00000569958.1_Intron|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.A81V|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	108			A -> V (in CDG1A). {ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:15844218}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AGCTACATTGCGAAAATTAAA	0.408																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9	GRCh37	CM971223	PMM2	M		c.(322-324)gCg>gTg		phosphomannomutase 2							90.0	87.0	88.0					16																	8900240		2197	4300	6497	SO:0001583	missense	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8900240C>T	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.323C>T	16.37:g.8900240C>T	ENSP00000268261:p.Ala108Val					PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.A81V|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V|PMM2_ENST00000537352.1_Intron	p.A108V	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			4	389	+			108		A -> V (in CDG1A).			A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	37	c.323C>T	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335558	0.60853	.	.	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.98777	-5.13;-5.13	5.56	5.56	0.83823	HAD-like domain (1);	0.152193	0.64402	D	0.000017	D	0.97939	0.9322	M	0.85859	2.78	0.80722	D	1	B;B;P	0.37781	0.033;0.393;0.608	B;B;B	0.31101	0.004;0.124;0.07	D	0.98847	1.0757	10	0.59425	D	0.04	-10.7806	18.5214	0.90954	0.0:1.0:0.0:0.0	.	25;108;108	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	V	108;25	ENSP00000268261:A108V;ENSP00000445879:A25V	ENSP00000268261:A108V	A	+	2	0	PMM2	8807741	0.975000	0.34042	0.250000	0.24296	0.890000	0.51754	2.371000	0.44248	2.608000	0.88229	0.591000	0.81541	GCG		0.408	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		63	268	0	0	0	1	0	63	268				
ATAD2B	54454	broad.mit.edu	37	2	23977640	23977640	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:23977640A>C	ENST00000238789.5	-	26	4426	c.4083T>G	c.(4081-4083)gcT>gcG	p.A1361A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1361						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTTAGAAGCACCTATAA	0.373																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(4081-4083)gcT>gcG		ATPase family, AAA domain containing 2B							58.0	61.0	60.0					2																	23977640		1808	4071	5879	SO:0001819	synonymous_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23977640A>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4083T>G	2.37:g.23977640A>C						ATAD2B_ENST00000474583.1_5'UTR	p.A1361A	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			26	4426	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1361					B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	37	c.4083T>G	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270175	0.23221	.	.	ENSG00000119778	ENST00000381024	.	.	.	5.39	1.7	0.24286	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	.	4.9134	0.13833	0.496:0.3372:0.1669:0.0	.	.	.	.	R	637	.	.	L	-	2	0	ATAD2B	23831144	0.984000	0.35163	1.000000	0.80357	0.949000	0.60115	0.076000	0.14712	0.434000	0.26340	0.528000	0.53228	CTT		0.373	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		64	183	0	0	0	1	0	64	183				
SLC22A2	6582	broad.mit.edu	37	6	160679678	160679678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160679678C>T	ENST00000366953.3	-	1	370	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.V17M	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	38					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ACGATGCCCACGTAGATGGGC	0.607																																						ENST00000366952.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(49-51)Gtg>Atg		solute carrier family 22 (organic cation transporter), member 2							40.0	44.0	43.0					6																	160679678		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679678C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.112G>A	6.37:g.160679678C>T	ENSP00000355920:p.Val38Met					SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.V38M	p.V17M			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	3	1530	-		Breast(66;0.000776)|Ovarian(120;0.0303)	38					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.49G>A	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676933	0.67928	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73469	-0.75;-0.74	5.22	5.22	0.72569	Major facilitator superfamily domain (1);	0.136685	0.48767	D	0.000163	T	0.70011	0.3175	L	0.39692	1.235	0.43574	D	0.995904	D;D;D	0.64830	0.988;0.97;0.994	P;B;P	0.54140	0.726;0.298;0.743	T	0.65549	-0.6141	10	0.25751	T	0.34	.	18.9747	0.92731	0.0:1.0:0.0:0.0	.	38;38;38	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	M	38;17	ENSP00000355920:V38M;ENSP00000355919:V17M	ENSP00000355919:V17M	V	-	1	0	SLC22A2	160599668	0.999000	0.42202	0.982000	0.44146	0.709000	0.40893	4.177000	0.58276	2.701000	0.92244	0.557000	0.71058	GTG		0.607	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		22	478	0	0	0	1	0	22	478				
ANKRD13A	88455	broad.mit.edu	37	12	110450942	110450942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110450942C>T	ENST00000261739.4	+	3	408	c.242C>T	c.(241-243)gCt>gTt	p.A81V	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	81						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TTACATGAGGCTGTGAGCACT	0.433																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(241-243)gCt>gTt		ankyrin repeat domain 13A							105.0	88.0	94.0					12																	110450942		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110450942C>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.242C>T	12.37:g.110450942C>T	ENSP00000261739:p.Ala81Val					ANKRD13A_ENST00000550404.1_3'UTR	p.A81V	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			3	408	+			81					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.242C>T	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189695	0.78789	.	.	ENSG00000076513	ENST00000261739	D	0.87491	-2.26	5.96	5.96	0.96718	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.84846	2.72	0.80722	D	1	P;D;D	0.89917	0.955;1.0;0.999	P;D;D	0.87578	0.698;0.998;0.994	D	0.94044	0.7312	10	0.56958	D	0.05	-4.7707	19.4101	0.94667	0.0:1.0:0.0:0.0	.	81;81;81	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	V	81	ENSP00000261739:A81V	ENSP00000261739:A81V	A	+	2	0	ANKRD13A	108935325	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.734000	0.84928	2.832000	0.97577	0.655000	0.94253	GCT		0.433	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		50	219	0	0	0	1	0	50	219				
CCDC92	80212	broad.mit.edu	37	12	124422143	124422143	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124422143C>A	ENST00000238156.3	-	5	812	c.458G>T	c.(457-459)aGc>aTc	p.S153I	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545135.1_Missense_Mutation_p.S136I|CCDC92_ENST00000544798.1_Intron	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	153						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGCGATGGTGCTGGCCCGCTG	0.622																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(406-408)aGc>aTc		coiled-coil domain containing 92							114.0	97.0	103.0					12																	124422143		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124422143C>A	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.458G>T	12.37:g.124422143C>A	ENSP00000238156:p.Ser153Ile					CCDC92_ENST00000238156.3_Missense_Mutation_p.S153I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I	p.S136I			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3703	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		153					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.407G>T	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.816209	0.50527	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.25414	1.8;1.82;1.82	5.56	2.74	0.32292	.	0.466412	0.27323	N	0.019897	T	0.24509	0.0594	M	0.72479	2.2	0.40073	D	0.976031	P	0.36909	0.573	B	0.32289	0.143	T	0.03597	-1.1021	10	0.44086	T	0.13	-3.2303	8.999	0.36069	0.0:0.7439:0.1223:0.1337	.	153	Q53HC0	CCD92_HUMAN	I	153;136;136	ENSP00000238156:S153I;ENSP00000439526:S136I;ENSP00000440024:S136I	ENSP00000238156:S153I	S	-	2	0	CCDC92	122988096	1.000000	0.71417	0.820000	0.32676	0.100000	0.18952	4.971000	0.63749	0.305000	0.22832	-0.226000	0.12346	AGC		0.622	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		142	569	1	0	1.35869e-70	1	1.72609e-70	142	569				
MAP3K9	4293	broad.mit.edu	37	14	71267541	71267541	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267541C>T	ENST00000554752.2	-	2	662	c.663G>A	c.(661-663)gaG>gaA	p.E221E	MAP3K9_ENST00000555993.2_Silent_p.E221E|MAP3K9_ENST00000381250.4_Silent_p.E221E	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACGAGCAAACTCCATGACCA	0.522																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(661-663)gaG>gaA		mitogen-activated protein kinase kinase kinase 9							104.0	92.0	96.0					14																	71267541		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267541C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.663G>A	14.37:g.71267541C>T						MAP3K9_ENST00000381250.4_Silent_p.E221E|MAP3K9_ENST00000555993.2_Silent_p.E221E	p.E221E			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	662	-			221			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.663G>A																																																																																					0.522	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			52	323	0	0	0	1	0	52	323				
KCNA10	3744	broad.mit.edu	37	1	111060913	111060913	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060913A>C	ENST00000369771.2	-	1	884	c.497T>G	c.(496-498)aTc>aGc	p.I166S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	166					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	ATAGAAGGAGATTTCATCAGC	0.488																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(496-498)aTc>aGc		potassium voltage-gated channel, shaker-related subfamily, member 10							85.0	87.0	87.0					1																	111060913		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060913A>C	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.497T>G	1.37:g.111060913A>C	ENSP00000358786:p.Ile166Ser						p.I166S	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	884	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	166						Missense_Mutation	SNP	ENST00000369771.2	37	c.497T>G	CCDS826.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801845	0.70682	.	.	ENSG00000143105	ENST00000369771	T	0.79141	-1.24	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.049923	0.85682	D	0.000000	D	0.89996	0.6877	H	0.94964	3.605	0.58432	D	0.999999	D	0.53462	0.96	D	0.72338	0.977	D	0.92567	0.6063	10	0.87932	D	0	.	15.1961	0.73088	1.0:0.0:0.0:0.0	.	166	Q16322	KCA10_HUMAN	S	166	ENSP00000358786:I166S	ENSP00000358786:I166S	I	-	2	0	KCNA10	110862436	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.257000	0.74773	0.533000	0.62120	ATC		0.488	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		69	256	0	0	0	1	0	69	256				
ZNF568	374900	broad.mit.edu	37	19	37440777	37440777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440777A>G	ENST00000333987.7	+	7	1228	c.722A>G	c.(721-723)gAg>gGg	p.E241G	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.E177G|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTAGACATGAGCGAATTCAT	0.383																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(529-531)gAg>gGg		zinc finger protein 568							60.0	62.0	61.0					19																	37440777		2098	4262	6360	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440777A>G	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.722A>G	19.37:g.37440777A>G	ENSP00000334685:p.Glu241Gly					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E241G|ZNF568_ENST00000455427.2_Intron	p.E177G	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	906	+	Esophageal squamous(110;0.183)		241					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.530A>G	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345033	0.24426	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.07444	3.19;3.19	3.83	0.267	0.15622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.440276	0.16878	N	0.195807	T	0.07143	0.0181	L	0.46157	1.445	0.21627	N	0.999615	B	0.06786	0.001	B	0.15484	0.013	T	0.29731	-1.0002	10	0.62326	D	0.03	.	4.1248	0.10123	0.5954:0.0:0.0947:0.3099	.	241	Q3ZCX4	ZN568_HUMAN	G	241;177	ENSP00000334685:E241G;ENSP00000394514:E177G	ENSP00000334685:E241G	E	+	2	0	ZNF568	42132617	0.000000	0.05858	0.016000	0.15963	0.936000	0.57629	0.280000	0.18790	-0.157000	0.11059	0.528000	0.53228	GAG		0.383	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		74	283	0	0	0	1	0	74	283				
SEMA7A	8482	broad.mit.edu	37	15	74708920	74708920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74708920C>T	ENST00000261918.4	-	7	1345	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	266	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCTCACCCTGCACAACTGGGC	0.542																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(796-798)tGc>tAc		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							185.0	152.0	163.0					15																	74708920		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708920C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.797G>A	15.37:g.74708920C>T	ENSP00000261918:p.Cys266Tyr					SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y	p.C266Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			7	1345	-			266			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.797G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439914	0.63067	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	D;D;D	0.90133	-2.62;-2.62;-2.62	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97514	1.0068	10	0.87932	D	0	-31.9584	16.9441	0.86226	0.0:1.0:0.0:0.0	.	252;266	F5H1S0;O75326	.;SEM7A_HUMAN	Y	266;252;101	ENSP00000261918:C266Y;ENSP00000438966:C252Y;ENSP00000441493:C101Y	ENSP00000261918:C266Y	C	-	2	0	SEMA7A	72495973	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	4.368000	0.59505	2.525000	0.85131	0.655000	0.94253	TGC		0.542	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		40	189	0	0	0	1	0	40	189				
SBF2	81846	broad.mit.edu	37	11	10064430	10064430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10064430G>A	ENST00000256190.8	-	3	377	c.240C>T	c.(238-240)tgC>tgT	p.C80C	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	80	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTAGGCATGAGCAGTAATGTC	0.443																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(238-240)tgC>tgT		SET binding factor 2							146.0	122.0	130.0					11																	10064430		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10064430G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.240C>T	11.37:g.10064430G>A						SBF2_ENST00000527019.1_5'UTR	p.C80C	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	3	377	-			80			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.240C>T	CCDS31427.1																																																																																				0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		65	294	0	0	0	1	0	65	294				
HIATL1	84641	broad.mit.edu	37	9	97220650	97220650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97220650C>T	ENST00000375344.3	+	11	1442	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	HIATL1_ENST00000428393.2_Missense_Mutation_p.P294S	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	391					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TATGCAATGGCCTGGGGCCAG	0.448																																					Pancreas(77;1260 1915 1973 10423)	ENST00000428393.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(880-882)Cct>Tct		hippocampus abundant transcript-like 1							135.0	130.0	131.0					9																	97220650		2203	4300	6503	SO:0001819	synonymous_variant	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97220650C>T	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1173C>T	9.37:g.97220650C>T						HIATL1_ENST00000375344.3_Silent_p.G391G	p.P294S			Q5SR56	HIAL1_HUMAN			9	916	+		Acute lymphoblastic leukemia(62;0.136)	0					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.880C>T	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718586	0.30503	.	.	ENSG00000148110	ENST00000277183;ENST00000428393	T	0.50001	0.76	5.0	4.07	0.47477	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.26123	N	0.980522	B	0.02656	0.0	B	0.04013	0.001	T	0.27434	-1.0074	8	0.87932	D	0	-8.4171	5.6709	0.17721	0.0:0.6882:0.1983:0.1135	.	294	B4DUE6	.	S	96;294	ENSP00000405909:P294S	ENSP00000277183:P96S	P	+	1	0	HIATL1	96260471	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.664000	0.25068	1.395000	0.46643	0.655000	0.94253	CCT		0.448	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		71	381	0	0	0	1	0	71	381				
IQGAP3	128239	broad.mit.edu	37	1	156504303	156504303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156504303G>A	ENST00000361170.2	-	29	3740	c.3730C>T	c.(3730-3732)Ctc>Ttc	p.L1244F	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1244					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAACTTGAGGTGTGTTTCC	0.562																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(3730-3732)Ctc>Ttc		IQ motif containing GTPase activating protein 3							110.0	93.0	98.0					1																	156504303		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156504303G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3730C>T	1.37:g.156504303G>A	ENSP00000354451:p.Leu1244Phe						p.L1244F	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			29	3740	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1244					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.3730C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962745	0.18583	.	.	ENSG00000183856	ENST00000361170	D	0.82167	-1.58	5.15	3.24	0.37175	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	1.032550	0.07629	N	0.928249	T	0.61160	0.2325	L	0.54323	1.7	0.28454	N	0.91623	B	0.24258	0.1	B	0.18561	0.022	T	0.54860	-0.8230	10	0.56958	D	0.05	-2.5708	2.0226	0.03512	0.1698:0.159:0.5066:0.1646	.	1244	Q86VI3	IQGA3_HUMAN	F	1244	ENSP00000354451:L1244F	ENSP00000354451:L1244F	L	-	1	0	IQGAP3	154770927	0.000000	0.05858	0.908000	0.35775	0.987000	0.75469	-0.196000	0.09532	0.715000	0.32103	0.563000	0.77884	CTC		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		45	167	0	0	0	1	0	45	167				
KCNJ4	3761	broad.mit.edu	37	22	38823648	38823648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823648C>T	ENST00000303592.3	-	2	748	c.490G>A	c.(490-492)Gac>Aac	p.D164N	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium. {ECO:0000250}.			potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGAAGGAGTCGATGACGCAG	0.627																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(490-492)Gac>Aac		potassium inwardly-rectifying channel, subfamily J, member 4							62.0	56.0	58.0					22																	38823648		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823648C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.490G>A	22.37:g.38823648C>T	ENSP00000306497:p.Asp164Asn						p.D164N	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	748	-	Melanoma(58;0.0286)		164				Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).	Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.490G>A	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398230	0.62177	.	.	ENSG00000168135	ENST00000303592	D	0.93712	-3.27	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93955	0.7235	10	0.26408	T	0.33	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	164	P48050	IRK4_HUMAN	N	164	ENSP00000306497:D164N	ENSP00000306497:D164N	D	-	1	0	KCNJ4	37153594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.071000	0.71229	2.472000	0.83506	0.555000	0.69702	GAC		0.627	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		62	247	0	0	0	1	0	62	247				
ANKRD11	29123	broad.mit.edu	37	16	89345738	89345738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89345738C>T	ENST00000301030.4	-	9	7672	c.7212G>A	c.(7210-7212)acG>acA	p.T2404T	ANKRD11_ENST00000378330.2_Silent_p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2404					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTCTGCTGCGTGGACGTGT	0.682																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7210-7212)acG>acA		ankyrin repeat domain 11							19.0	18.0	18.0					16																	89345738		2195	4299	6494	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89345738C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7212G>A	16.37:g.89345738C>T						ANKRD11_ENST00000378330.2_Silent_p.T2404T	p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7672	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2404					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7212G>A	CCDS32513.1																																																																																				0.682	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		20	148	0	0	0	1	0	20	148				
SREK1	140890	broad.mit.edu	37	5	65474603	65474603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65474603G>A	ENST00000380918.3	+	13	2094	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Silent_p.K594K	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	478					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						TAGATGACAAGGATGCACCAA	0.383																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(1780-1782)aaG>aaA		splicing regulatory glutamine/lysine-rich protein 1							145.0	127.0	133.0					5																	65474603		2203	4300	6503	SO:0001819	synonymous_variant	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65474603G>A	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1434G>A	5.37:g.65474603G>A						SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Silent_p.K478K	p.K594K	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			12	1941	+			478					A4FTW3|Q2M1J0|Q86X37	Silent	SNP	ENST00000380918.3	37	c.1782G>A	CCDS3991.1																																																																																				0.383	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		65	278	0	0	0	1	0	65	278				
KBTBD3	143879	broad.mit.edu	37	11	105929591	105929591	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105929591C>A	ENST00000531482.2	-	1	247		c.e1+1		KBTBD3_ENST00000531837.1_Splice_Site|KBTBD3_ENST00000526793.1_Splice_Site|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3											NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AGGTAAAGTACCTGAAAAAGT	0.323																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.e2+1		kelch repeat and BTB (POZ) domain containing 3							77.0	74.0	75.0					11																	105929591		2201	4298	6499	SO:0001630	splice_region_variant	143879							g.chr11:105929591C>A	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.233+1G>T	11.37:g.105929591C>A						KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531482.2_Splice_Site|KBTBD3_ENST00000531837.1_Splice_Site		NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	2	393	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)						Q6N066|Q86X38|Q96NK5	Splice_Site	SNP	ENST00000531482.2	37			.	.	.	.	.	.	.	.	.	.	C	20.4	3.985867	0.74589	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KBTBD3	105434801	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.458000	0.80787	2.692000	0.91855	0.655000	0.94253	.		0.323	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433	Intron	28	148	1	0	6.38683e-12	1	6.83756e-12	28	148				
MDN1	23195	broad.mit.edu	37	6	90402593	90402593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90402593G>A	ENST00000369393.3	-	63	10271	c.10156C>T	c.(10156-10158)Ctg>Ttg	p.L3386L	MDN1_ENST00000428876.1_Silent_p.L3386L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3386					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTCTGACAGCCGCTTCCGG	0.582																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(10156-10158)Ctg>Ttg		MDN1, midasin homolog (yeast)							57.0	53.0	55.0					6																	90402593		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90402593G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10156C>T	6.37:g.90402593G>A						MDN1_ENST00000428876.1_Silent_p.L3386L	p.L3386L			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	63	10271	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3386					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.10156C>T	CCDS5024.1																																																																																				0.582	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			23	253	0	0	0	1	0	23	253				
RAB37	326624	broad.mit.edu	37	17	72733174	72733174	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72733174G>A	ENST00000392613.5	+	0	0				RAB37_ENST00000392610.1_5'Flank|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.G9E|RAB37_ENST00000392612.3_5'Flank|RAB37_ENST00000392615.5_Missense_Mutation_p.G9E	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GAAGCGCACGGAGCCGAGCCG	0.721																																						ENST00000392614.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(25-27)gGa>gAa		RAB37, member RAS oncogene family							12.0	15.0	14.0					17																	72733174		1552	3554	5106	SO:0001631	upstream_gene_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72733174G>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282		17.37:g.72733174G>A	Exception_encountered					RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000392615.5_Missense_Mutation_p.G9E	p.G9E	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN			1	119	+			0					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.26G>A	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720324	0.48728	.	.	ENSG00000172794	ENST00000392615;ENST00000392614	T;T	0.61859	0.22;0.07	2.95	0.212	0.15240	.	0.826663	0.10644	N	0.650702	T	0.68284	0.2984	.	.	.	0.09310	N	0.999995	D;B	0.89917	1.0;0.0	D;B	0.97110	1.0;0.0	T	0.54050	-0.8351	9	0.49607	T	0.09	.	5.0648	0.14576	0.6935:0.0:0.3065:0.0	.	9;9	A8MZI4;A8MYT0	.;.	E	9	ENSP00000376391:G9E;ENSP00000376390:G9E	ENSP00000376390:G9E	G	+	2	0	RAB37	70244769	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.157000	0.16402	0.029000	0.15352	0.462000	0.41574	GGA		0.721	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		18	81	0	0	0	1	0	18	81				
UBR2	23304	broad.mit.edu	37	6	42652582	42652582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42652582G>A	ENST00000372899.1	+	44	5084	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	UBR2_ENST00000372901.1_Missense_Mutation_p.S1609N|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1609					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATTACAGCAGCCTCATTAAT	0.333																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(4825-4827)aGc>aAc		ubiquitin protein ligase E3 component n-recognin 2							67.0	68.0	67.0					6																	42652582		2202	4300	6502	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42652582G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4826G>A	6.37:g.42652582G>A	ENSP00000361990:p.Ser1609Asn					UBR2_ENST00000372901.1_Missense_Mutation_p.S1609N|UBR2_ENST00000372883.3_3'UTR	p.S1609N	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		44	5084	+	Colorectal(47;0.196)		1609					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.4826G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095316	0.36952	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49432	0.78;0.78	5.64	4.77	0.60923	.	0.413235	0.31188	N	0.008095	T	0.29716	0.0742	L	0.53249	1.67	0.80722	D	1	B;B	0.31383	0.321;0.084	B;B	0.35688	0.208;0.039	T	0.11397	-1.0589	10	0.20519	T	0.43	-11.6774	14.2927	0.66289	0.0714:0.0:0.9286:0.0	.	1609;1609	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	N	1609	ENSP00000361990:S1609N;ENSP00000361992:S1609N	ENSP00000361990:S1609N	S	+	2	0	UBR2	42760560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.718000	0.38001	1.374000	0.46228	0.643000	0.83706	AGC		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		31	176	0	0	0	1	0	31	176				
BAIAP2	10458	broad.mit.edu	37	17	79073803	79073803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79073803G>T	ENST00000321300.6	+	7	658	c.565G>T	c.(565-567)Gag>Tag	p.E189*	BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	189	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGCACTGACAGAGGAGCGCAG	0.622																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(565-567)Gag>Tag		BAI1-associated protein 2							87.0	81.0	83.0					17																	79073803		2203	4300	6503	SO:0001587	stop_gained	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79073803G>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.565G>T	17.37:g.79073803G>T	ENSP00000316338:p.Glu189*					BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*	p.E189*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		7	658	+	all_neural(118;0.101)		189			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Nonsense_Mutation	SNP	ENST00000321300.6	37	c.565G>T	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220483	0.79464	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.374	18.6597	0.91468	0.0:0.0:1.0:0.0	.	.	.	.	X	189;189;189;189;111;52	.	ENSP00000315685:E189X	E	+	1	0	BAIAP2	76688398	1.000000	0.71417	0.955000	0.39395	0.411000	0.31082	9.274000	0.95731	2.401000	0.81631	0.491000	0.48974	GAG		0.622	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			15	427	1	0	1.49906e-05	1	1.53515e-05	15	427				
KCNH5	27133	broad.mit.edu	37	14	63269190	63269190	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269190C>T	ENST00000322893.7	-	9	1947	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCCAAGGCGCGCAGACACCC	0.507																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1678-1680)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 5							83.0	78.0	79.0					14																	63269190		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269190C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1679G>A	14.37:g.63269190C>T	ENSP00000321427:p.Arg560His					KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H	p.R560H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1947	-			560					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1679G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509708	0.85282	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96885	-4.16;-4.16;-4.16	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99445	1.0939	10	0.87932	D	0	.	15.065	0.71986	0.1432:0.8568:0.0:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	H	560;560;502	ENSP00000321427:R560H;ENSP00000395439:R560H;ENSP00000378419:R502H	ENSP00000321427:R560H	R	-	2	0	KCNH5	62338943	1.000000	0.71417	0.865000	0.33974	0.885000	0.51271	6.029000	0.70895	1.262000	0.44165	0.563000	0.77884	CGC		0.507	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		65	318	0	0	0	1	0	65	318				
IFNA16	3449	broad.mit.edu	37	9	21217213	21217213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21217213C>T	ENST00000380216.1	-	1	97	c.92G>A	c.(91-93)aGc>aAc	p.S31N		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	31					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTACCCAGGCTGTGAGTCTG	0.507																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(91-93)aGc>aAc		interferon, alpha 16							93.0	94.0	94.0					9																	21217213		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21217213C>T		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.92G>A	9.37:g.21217213C>T	ENSP00000369564:p.Ser31Asn						p.S31N	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	97	-			31					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.92G>A	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	2.568	-0.300385	0.05532	.	.	ENSG00000147885	ENST00000380216	T	0.03358	3.96	2.62	1.67	0.24075	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.801600	0.11407	N	0.567150	T	0.02888	0.0086	L	0.31526	0.94	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.47381	-0.9122	10	0.24483	T	0.36	.	4.4801	0.11762	0.0:0.6507:0.0:0.3493	.	31	P05015	IFN16_HUMAN	N	31	ENSP00000369564:S31N	ENSP00000369564:S31N	S	-	2	0	IFNA16	21207213	0.000000	0.05858	0.002000	0.10522	0.188000	0.23474	-2.500000	0.00967	0.401000	0.25424	0.184000	0.17185	AGC		0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		96	526	0	0	0	1	0	96	526				
CCT7	10574	broad.mit.edu	37	2	73470188	73470188	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73470188G>A	ENST00000258091.5	+	4	465	c.324G>A	c.(322-324)gtG>gtA	p.V108V	CCT7_ENST00000539919.1_Silent_p.V64V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000538797.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	108					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGAAGCAGGTGAAACCCTATG	0.512																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(190-192)gtG>gtA		chaperonin containing TCP1, subunit 7 (eta)							86.0	86.0	86.0					2																	73470188		1956	4142	6098	SO:0001819	synonymous_variant	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73470188G>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.324G>A	2.37:g.73470188G>A						CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000258091.5_Silent_p.V108V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000538797.1_5'UTR	p.V64V	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			5	563	+			108					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	37	c.192G>A	CCDS46336.1																																																																																				0.512	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			65	329	0	0	0	1	0	65	329				
STXBP2	6813	broad.mit.edu	37	19	7707366	7707366	+	Silent	SNP	C	C	T	rs143108973	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707366C>T	ENST00000221283.5	+	10	877	c.846C>T	c.(844-846)gaC>gaT	p.D282D	STXBP2_ENST00000414284.2_Silent_p.D279D|STXBP2_ENST00000441779.2_Silent_p.D293D	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	282					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTGCTGGACGAGGACGATG	0.662													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		16550	0.0		0.0	False		,,,				2504	0.0					ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(877-879)gaC>gaT		syntaxin binding protein 2		C	,	14,4392	21.2+/-45.6	0,14,2189	151.0	150.0	150.0		837,846	-6.6	0.2	19	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STXBP2	NM_001127396.1,NM_006949.2	,	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	,	279/591,282/594	7707366	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707366C>T	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.846C>T	19.37:g.7707366C>T						STXBP2_ENST00000221283.5_Silent_p.D282D|STXBP2_ENST00000414284.2_Silent_p.D279D	p.D293D	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			10	916	+			282					B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	37	c.879C>T	CCDS12181.1																																																																																				0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		217	828	0	0	0	1	0	217	828				
TRPC4AP	26133	broad.mit.edu	37	20	33591414	33591414	+	Silent	SNP	G	G	A	rs145462116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33591414G>A	ENST00000252015.2	-	18	2144	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	TRPC4AP_ENST00000539834.1_Silent_p.N287N|TRPC4AP_ENST00000432634.2_Silent_p.N646N|TRPC4AP_ENST00000451813.2_Silent_p.N677N			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	685					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGCAGCTGACGTTCTCCTGCA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16071	0.0		0.0	False		,,,				2504	0.0					ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(2053-2055)aaC>aaT		transient receptor potential cation channel, subfamily C, member 4 associated protein		G	,	4,4402	8.1+/-20.4	0,4,2199	31.0	27.0	29.0		2055,2031	-8.0	0.5	20	dbSNP_134	29	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRPC4AP	NM_015638.2,NM_199368.1	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	685/798,677/790	33591414	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33591414G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2055C>T	20.37:g.33591414G>A						TRPC4AP_ENST00000451813.1_Silent_p.N677N|TRPC4AP_ENST00000432634.2_Silent_p.N646N|TRPC4AP_ENST00000539834.1_Silent_p.N287N	p.N685N			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		18	2144	-			685					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.2055C>T	CCDS13246.1																																																																																				0.667	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		41	89	0	0	0	1	0	41	89				
PPIC	5480	broad.mit.edu	37	5	122361664	122361664	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122361664C>A	ENST00000306442.4	-	4	441		c.e4-1			NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)						protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	ATGCTCACACCTGAGACAAAA	0.453																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.e4-1		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						65.0	53.0	57.0					5																	122361664		2203	4300	6503	SO:0001630	splice_region_variant	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122361664C>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.326-1G>T	5.37:g.122361664C>A								NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	4	441	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)						A4LBB5	Splice_Site	SNP	ENST00000306442.4	37		CCDS4133.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436279	0.96168	.	.	ENSG00000168938	ENST00000306442	.	.	.	6.02	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.403	0.74855	0.0:0.9335:0.0:0.0665	.	.	.	.	.	-1	.	.	.	-	.	.	PPIC	122389563	1.000000	0.71417	0.408000	0.26446	0.990000	0.78478	7.449000	0.80643	1.565000	0.49641	0.655000	0.94253	.		0.453	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943	Intron	20	117	1	0	1.2644e-06	1	1.30616e-06	20	117				
ZAP70	7535	broad.mit.edu	37	2	98340826	98340826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340826G>A	ENST00000264972.5	+	3	542	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	109	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGGGCCTCGAGCCGCAGCCGG	0.711																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(325-327)gaG>gaA		zeta-chain (TCR) associated protein kinase 70kDa							5.0	6.0	6.0					2																	98340826		1890	3801	5691	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340826G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.327G>A	2.37:g.98340826G>A							p.E109E	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			3	542	+			109			Interdomain A.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.327G>A	CCDS33254.1																																																																																				0.711	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			8	43	0	0	0	1	0	8	43				
ZNF554	115196	broad.mit.edu	37	19	2834613	2834613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2834613C>T	ENST00000317243.5	+	5	1578	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACACGGGCGAGAACCCCT	0.547																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1378-1380)ggC>ggT		zinc finger protein 554							60.0	71.0	67.0					19																	2834613		2202	4299	6501	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834613C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1380C>T	19.37:g.2834613C>T							p.G460G	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1578	+		Hepatocellular(1079;0.137)	460					Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.1380C>T	CCDS42462.1																																																																																				0.547	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		53	219	0	0	0	1	0	53	219				
FBL	2091	broad.mit.edu	37	19	40331285	40331285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40331285G>A	ENST00000221801.3	-	2	266	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	51	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		caccgccgccgccgcctccac	0.662																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(151-153)ggC>ggT		fibrillarin							18.0	21.0	20.0					19																	40331285		2201	4299	6500	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331285G>A	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.153C>T	19.37:g.40331285G>A							p.G51G	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	2	266	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	51			DMA/Gly-rich.		B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.153C>T	CCDS12545.1																																																																																				0.662	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		31	142	0	0	0	1	0	31	142				
GOLGB1	2804	broad.mit.edu	37	3	121386347	121386347	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121386347G>T	ENST00000340645.5	-	20	9640	c.9515C>A	c.(9514-9516)tCt>tAt	p.S3172Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S3182Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3172					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCGGCCACAGAGAGAGCATT	0.498																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(9544-9546)tCt>tAt		golgin B1							99.0	90.0	93.0					3																	121386347		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121386347G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9515C>A	3.37:g.121386347G>T	ENSP00000341848:p.Ser3172Tyr					GOLGB1_ENST00000340645.5_Missense_Mutation_p.S3172Y	p.S3182Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	20	9655	-			3172					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.9545C>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937865	0.34189	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15603	2.41;2.41	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000013	T	0.24699	0.0599	L	0.27053	0.805	0.30771	N	0.742987	D;D;P	0.60575	0.988;0.988;0.496	P;P;B	0.58331	0.837;0.837;0.261	T	0.02588	-1.1137	10	0.66056	D	0.02	.	14.1868	0.65609	0.0:0.0:1.0:0.0	.	3182;3182;3172	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Y	3172;3182	ENSP00000341848:S3172Y;ENSP00000377275:S3182Y	ENSP00000341848:S3172Y	S	-	2	0	GOLGB1	122869037	0.029000	0.19370	0.245000	0.24217	0.249000	0.25844	0.946000	0.29069	2.740000	0.93945	0.650000	0.86243	TCT		0.498	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		83	329	1	0	4.03997e-35	1	4.81766e-35	83	329				
PIGQ	9091	broad.mit.edu	37	16	628425	628425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:628425C>T	ENST00000026218.5	+	5	1077	c.989C>T	c.(988-990)gCt>gTt	p.A330V	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V|PIGQ_ENST00000321878.5_Missense_Mutation_p.A330V	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	330	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGATGGGTGCTCCCGCCGGG	0.677																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(988-990)gCt>gTt		phosphatidylinositol glycan anchor biosynthesis, class Q							41.0	36.0	37.0					16																	628425		2197	4298	6495	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:628425C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.989C>T	16.37:g.628425C>T	ENSP00000026218:p.Ala330Val					PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V|PIGQ_ENST00000026218.5_Missense_Mutation_p.A330V|PIGQ_ENST00000544860.1_3'UTR	p.A330V	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			5	1148	+		Hepatocellular(780;0.00335)	330			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.989C>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715057	0.15306	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.44881	0.91;0.91;2.2	5.47	3.32	0.38043	.	0.097986	0.64402	D	0.000001	T	0.16896	0.0406	N	0.02213	-0.635	0.80722	D	1	P;P;B	0.44776	0.62;0.843;0.033	B;B;B	0.40659	0.136;0.336;0.027	T	0.04203	-1.0969	10	0.14656	T	0.56	-8.6134	10.2282	0.43238	0.0:0.7882:0.0:0.2118	.	344;330;330	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	V	330	ENSP00000386760:A330V;ENSP00000326674:A330V;ENSP00000026218:A330V	ENSP00000026218:A330V	A	+	2	0	PIGQ	568426	0.983000	0.35010	0.045000	0.18777	0.349000	0.29174	2.593000	0.46180	1.337000	0.45525	-0.229000	0.12294	GCT		0.677	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		44	234	0	0	0	1	0	44	234				
IRS1	3667	broad.mit.edu	37	2	227660982	227660982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227660982G>A	ENST00000305123.5	-	1	3493	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	825					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTGGGCTCCAGCCTAGCCCCG	0.612																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2473-2475)Ctg>Ttg		insulin receptor substrate 1							41.0	50.0	47.0					2																	227660982		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660982G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2473C>T	2.37:g.227660982G>A							p.L825L	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3493	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	825						Silent	SNP	ENST00000305123.5	37	c.2473C>T	CCDS2463.1																																																																																				0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		48	640	0	0	0	1	0	48	640				
ZFR	51663	broad.mit.edu	37	5	32387723	32387723	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32387723G>A	ENST00000265069.8	-	14	2533	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	811	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTGAGCACAGCAAAACAAGG	0.383																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2431-2433)Ctg>Ttg		zinc finger RNA binding protein							120.0	118.0	119.0					5																	32387723		2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32387723G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2431C>T	5.37:g.32387723G>A							p.L811L	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	14	2533	-			811			DZF.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.2431C>T	CCDS34139.1																																																																																				0.383	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			75	361	0	0	0	1	0	75	361				
SZT2	23334	broad.mit.edu	37	1	43912042	43912042	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43912042C>A	ENST00000562955.1	+	64	8856	c.8856C>A	c.(8854-8856)gcC>gcA	p.A2952A	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Silent_p.A2110A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3009					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AACAGTTTGCCCTGGAATGTT	0.562																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8854-8856)gcC>gcA		seizure threshold 2 homolog (mouse)							145.0	128.0	134.0					1																	43912042		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43912042C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8856C>A	1.37:g.43912042C>A						SZT2_ENST00000372442.1_Silent_p.A2110A	p.A2952A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			64	8856	+			3009					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8856C>A	CCDS30694.2																																																																																				0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		15	335	1	0	2.62699e-14	1	2.8508e-14	15	335				
WISP3	8838	broad.mit.edu	37	6	112382319	112382319	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112382319G>T	ENST00000368666.2	+	2	460	c.174G>T	c.(172-174)aaG>aaT	p.K58N	WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N|WISP3_ENST00000361714.1_Missense_Mutation_p.K76N|WISP3_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000604763.1_Missense_Mutation_p.K58N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	58	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTCAGCAGAAGCCCCGTTGCC	0.527																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(226-228)aaG>aaT		WNT1 inducible signaling pathway protein 3							137.0	126.0	130.0					6																	112382319		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112382319G>T	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.174G>T	6.37:g.112382319G>T	ENSP00000357655:p.Lys58Asn					WISP3_ENST00000368666.2_Missense_Mutation_p.K58N|WISP3_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N|WISP3_ENST00000604763.1_Missense_Mutation_p.K58N	p.K76N			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	2	273	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	58			IGFBP N-terminal.		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.228G>T	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141233	0.09083	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.58	3.71	0.42584	Insulin-like growth factor-binding protein, IGFBP (3);	0.860116	0.09750	N	0.760779	T	0.30293	0.0760	L	0.44542	1.39	0.18873	N	0.999986	P;B	0.37276	0.589;0.351	B;B	0.30943	0.117;0.122	T	0.24977	-1.0145	10	0.62326	D	0.03	.	5.8736	0.18816	0.2242:0.148:0.6278:0.0	.	76;58	O95389-2;O95389	.;WISP3_HUMAN	N	58;58;76;58;36	ENSP00000357655:K58N;ENSP00000230529:K58N;ENSP00000354734:K76N;ENSP00000357652:K36N	ENSP00000230529:K58N	K	+	3	2	WISP3	112489012	0.989000	0.36119	0.690000	0.30148	0.032000	0.12392	1.954000	0.40362	1.046000	0.40249	-0.253000	0.11424	AAG		0.527	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		77	342	1	0	1.88935e-48	1	2.3319e-48	77	342				
KCNH4	23415	broad.mit.edu	37	17	40317623	40317623	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40317623A>G	ENST00000264661.3	-	11	2261	c.1929T>C	c.(1927-1929)agT>agC	p.S643S	KCNH4_ENST00000607371.1_Silent_p.S643S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	643					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACATCAGCACTGGTCTTTA	0.597																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1927-1929)agT>agC		potassium voltage-gated channel, subfamily H (eag-related), member 4							82.0	71.0	74.0					17																	40317623		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40317623A>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1929T>C	17.37:g.40317623A>G						KCNH4_ENST00000607371.1_Silent_p.S643S	p.S643S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	11	2261	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	643						Silent	SNP	ENST00000264661.3	37	c.1929T>C	CCDS11420.1																																																																																				0.597	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		38	264	0	0	0	1	0	38	264				
CTR9	9646	broad.mit.edu	37	11	10793106	10793106	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10793106T>C	ENST00000361367.2	+	19	2813	c.2387T>C	c.(2386-2388)tTg>tCg	p.L796S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	796					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTCAGTTATTTGAGTAAAGTG	0.328																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(2386-2388)tTg>tCg		CTR9, Paf1/RNA polymerase II complex component							156.0	156.0	156.0					11																	10793106		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10793106T>C	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2387T>C	11.37:g.10793106T>C	ENSP00000355013:p.Leu796Ser						p.L796S	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2813	+			796					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.2387T>C	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432723	0.83776	.	.	ENSG00000198730	ENST00000361367	T	0.60797	0.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.84111	0.0401	10	0.87932	D	0	-10.9708	15.8948	0.79326	0.0:0.0:0.0:1.0	.	796	Q6PD62	CTR9_HUMAN	S	796	ENSP00000355013:L796S	ENSP00000355013:L796S	L	+	2	0	CTR9	10749682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.928000	0.87587	2.219000	0.72066	0.528000	0.53228	TTG		0.328	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		128	570	0	0	0	1	0	128	570				
ZNF268	10795	broad.mit.edu	37	12	133779301	133779301	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133779301C>T	ENST00000536435.2	+	6	1359	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.F182F|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.F343F	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	343					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CATTCAGTTTCCATTCACAGC	0.393																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(1027-1029)ttC>ttT		zinc finger protein 268							32.0	34.0	34.0					12																	133779301		2173	4284	6457	SO:0001819	synonymous_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133779301C>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1029C>T	12.37:g.133779301C>T						ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.F182F|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.F343F|ZNF268_ENST00000541009.2_3'UTR	p.F343F	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1359	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	343					Q8TDG8|Q96RH4|Q9BZJ9	Silent	SNP	ENST00000536435.2	37	c.1029C>T	CCDS45012.1																																																																																				0.393	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		13	65	0	0	0	1	0	13	65				
L3MBTL1	26013	broad.mit.edu	37	20	42163582	42163582	+	Splice_Site	SNP	G	G	A	rs544291942		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42163582G>A	ENST00000427442.2	+	16	1918	c.1759G>A	c.(1759-1761)Gga>Aga	p.G587R	L3MBTL1_ENST00000418998.1_Splice_Site_p.G587R|L3MBTL1_ENST00000373135.3_Splice_Site_p.G519R|L3MBTL1_ENST00000444063.1_Splice_Site_p.G519R|L3MBTL1_ENST00000373134.1_Splice_Site_p.G519R			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	519					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCTCCTCTCGGTGTGTACCC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19411	0.001		0.0	False		,,,				2504	0.0					ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.e13+1		l(3)mbt-like 1 (Drosophila)							71.0	59.0	63.0					20																	42163582		2203	4300	6503	SO:0001630	splice_region_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42163582G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1759+1G>A	20.37:g.42163582G>A						L3MBTL1_ENST00000418998.1_Splice_Site_p.G587_splice|L3MBTL1_ENST00000373135.3_Splice_Site_p.G519_splice|L3MBTL1_ENST00000427442.2_Splice_Site_p.G587_splice|L3MBTL1_ENST00000373134.1_Splice_Site_p.G519_splice	p.G519_splice			Q9Y468	LMBL1_HUMAN			13	1687	+			519					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Splice_Site	SNP	ENST00000427442.2	37	c.1555_splice	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850488	0.32699	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.85	3.75	0.43078	.	0.199679	0.41097	N	0.000959	T	0.23289	0.0563	L	0.35487	1.065	0.80722	D	1	B;B;B;B	0.11235	0.001;0.004;0.003;0.002	B;B;B;B	0.12156	0.001;0.007;0.001;0.001	T	0.04635	-1.0937	10	0.08381	T	0.77	.	10.0898	0.42441	0.2371:0.6539:0.1089:0.0	.	587;171;519;519	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	R	587;587;519;519;519;305;171	ENSP00000402107:G587R;ENSP00000398516:G587R;ENSP00000362227:G519R;ENSP00000403316:G519R;ENSP00000362226:G519R;ENSP00000410139:G305R	ENSP00000362225:G171R	G	+	1	0	L3MBTL1	41596996	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.903000	0.28475	1.488000	0.48433	-0.128000	0.14901	GGA		0.552	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	Missense_Mutation	22	100	0	0	0	1	0	22	100				
ZNF260	339324	broad.mit.edu	37	19	37005586	37005586	+	Silent	SNP	G	G	T	rs575693709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005586G>T	ENST00000523638.1	-	3	1676	c.555C>A	c.(553-555)atC>atA	p.I185I	ZNF260_ENST00000588993.1_Silent_p.I185I|ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000593142.1_Silent_p.I185I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	185					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCCAGTATGGATGTTCTGAT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22638	0.001		0.0	False		,,,				2504	0.0					ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(553-555)atC>atA		zinc finger protein 260							169.0	171.0	170.0					19																	37005586		2203	4300	6503	SO:0001819	synonymous_variant	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005586G>T	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.555C>A	19.37:g.37005586G>T						ZNF260_ENST00000588993.1_Silent_p.I185I|ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000593142.1_Silent_p.I185I	p.I185I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	1676	-	Esophageal squamous(110;0.162)		185					Q0VF43	Silent	SNP	ENST00000523638.1	37	c.555C>A	CCDS33003.1																																																																																				0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		28	820	1	0	9.39395e-14	1	1.01619e-13	28	820				
SIPA1L2	57568	broad.mit.edu	37	1	232650124	232650124	+	Missense_Mutation	SNP	C	C	T	rs369266455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650124C>T	ENST00000366630.1	-	2	1320	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	321					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTCCAAGGGCGAATGCCCCT	0.468																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(961-963)cGc>cAc		signal-induced proliferation-associated 1 like 2		C	HIS/ARG	1,3907		0,1,1953	57.0	59.0	58.0		962	4.5	1.0	1		58	0,8304		0,0,4152	no	missense	SIPA1L2	NM_020808.3	29	0,1,6105	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	321/1723	232650124	1,12211	1954	4152	6106	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650124C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.962G>A	1.37:g.232650124C>T	ENSP00000355589:p.Arg321His					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H	p.R321H			Q9P2F8	SI1L2_HUMAN			2	1320	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	321					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.962G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571675	0.45798	2.56E-4	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.82433	-1.61;-1.61	5.39	4.49	0.54785	.	0.063541	0.64402	D	0.000003	T	0.78168	0.4241	L	0.59436	1.845	0.45899	D	0.998748	B	0.26547	0.152	B	0.23419	0.046	T	0.76570	-0.2911	10	0.62326	D	0.03	-25.2195	8.5231	0.33289	0.0:0.7729:0.0:0.2271	.	321	Q9P2F8	SI1L2_HUMAN	H	321	ENSP00000355589:R321H;ENSP00000262861:R321H	ENSP00000262861:R321H	R	-	2	0	SIPA1L2	230716747	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	0.907000	0.28531	1.517000	0.48917	0.650000	0.86243	CGC		0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		71	343	0	0	0	1	0	71	343				
HPS3	84343	broad.mit.edu	37	3	148868428	148868428	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148868428A>G	ENST00000296051.2	+	6	1346	c.1206A>G	c.(1204-1206)gcA>gcG	p.A402A	HPS3_ENST00000460120.1_Silent_p.A237A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	402					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGCGGCGGCAGCTCGTGAGG	0.517									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(1204-1206)gcA>gcG		Hermansky-Pudlak syndrome 3							128.0	113.0	118.0					3																	148868428		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148868428A>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1206A>G	3.37:g.148868428A>G						HPS3_ENST00000460120.1_Silent_p.A237A	p.A402A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1346	+			402					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.1206A>G	CCDS3140.1																																																																																				0.517	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		56	289	0	0	0	1	0	56	289				
PHPT1	29085	broad.mit.edu	37	9	139743981	139743981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743981C>T	ENST00000247665.10	+	1	436	c.99C>T	c.(97-99)tcC>tcT	p.S33S	MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_Silent_p.S33S|PHPT1_ENST00000371661.1_Silent_p.S33S|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000492540.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	33					negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCCCCGCTCCGGGGCTCCGG	0.652																																						ENST00000545326.1																			0				NS(1)|large_intestine(1)|lung(1)	3						c.(97-99)tcC>tcT		phosphohistidine phosphatase 1							59.0	63.0	62.0					9																	139743981		2203	4299	6502	SO:0001819	synonymous_variant	29085					cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity	g.chr9:139743981C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.99C>T	9.37:g.139743981C>T						PHPT1_ENST00000247665.10_Silent_p.S33S|PHPT1_ENST00000371661.1_Silent_p.S33S|PHPT1_ENST00000492540.1_3'UTR	p.S33S	NM_001135861.1	NP_001129333.1	Q9NRX4	PHP14_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	1	726	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)	33					B1AMX0|B1AMX1|Q9H0Y3	Silent	SNP	ENST00000247665.10	37	c.99C>T	CCDS7009.1																																																																																				0.652	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		46	413	0	0	0	1	0	46	413				
TSSK2	23617	broad.mit.edu	37	22	19119459	19119459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119459G>A	ENST00000399635.2	+	1	1139	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	183	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGCATATGCAGCCCCCGAGGT	0.597																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(547-549)Gcc>Acc		testis-specific serine kinase 2							92.0	92.0	92.0					22																	19119459		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119459G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.547G>A	22.37:g.19119459G>A	ENSP00000382544:p.Ala183Thr					DGCR14_ENST00000252137.6_3'UTR	p.A183T	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1139	+	Colorectal(54;0.0993)		183			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.547G>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120288	0.77323	.	.	ENSG00000206203	ENST00000399635	D	0.92099	-2.97	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000140	D	0.97567	0.9203	H	0.96662	3.86	0.44309	D	0.997186	D	0.76494	0.999	D	0.78314	0.991	D	0.98911	1.0780	10	0.87932	D	0	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	183	Q96PF2	TSSK2_HUMAN	T	183	ENSP00000382544:A183T	ENSP00000382544:A183T	A	+	1	0	TSSK2	17499459	1.000000	0.71417	0.978000	0.43139	0.764000	0.43329	5.266000	0.65525	2.487000	0.83934	0.655000	0.94253	GCC		0.597	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			126	572	0	0	0	1	0	126	572				
REM2	161253	broad.mit.edu	37	14	23354048	23354048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354048C>T	ENST00000267396.4	+	2	392	c.269C>T	c.(268-270)cCt>cTt	p.P90L	REM2_ENST00000536884.1_Missense_Mutation_p.P90L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	90					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GACTGGCCACCTCAGGCCTCA	0.632																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(268-270)cCt>cTt		RAS (RAD and GEM)-like GTP binding 2							39.0	44.0	42.0					14																	23354048		2177	4273	6450	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354048C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.269C>T	14.37:g.23354048C>T	ENSP00000267396:p.Pro90Leu					REM2_ENST00000536884.1_Missense_Mutation_p.P90L	p.P90L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	392	+	all_cancers(95;4.69e-05)		90					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.269C>T	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508339	0.64410	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68181	-0.31;1.21	5.88	5.88	0.94601	.	0.213901	0.39909	N	0.001222	T	0.64461	0.2600	L	0.29908	0.895	0.58432	D	0.999997	P;B	0.45827	0.867;0.164	P;B	0.48030	0.564;0.06	T	0.65240	-0.6216	10	0.49607	T	0.09	.	17.1447	0.86763	0.0:1.0:0.0:0.0	.	90;90	B7Z5P1;Q8IYK8	.;REM2_HUMAN	L	90	ENSP00000267396:P90L;ENSP00000442774:P90L	ENSP00000267396:P90L	P	+	2	0	REM2	22423888	0.085000	0.21516	1.000000	0.80357	0.991000	0.79684	1.317000	0.33631	2.778000	0.95560	0.655000	0.94253	CCT		0.632	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		31	294	0	0	0	1	0	31	294				
SEC24A	10802	broad.mit.edu	37	5	134039521	134039521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134039521A>G	ENST00000398844.2	+	16	2627	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S	RNU6-1164P_ENST00000364428.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	780					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)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|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)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTAACGTCAACCCAGACGCT	0.408																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2338-2340)aAc>aGc		SEC24 family member A							112.0	105.0	107.0					5																	134039521		1866	4100	5966	SO:0001583	missense	10802				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.chr5:134039521A>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2339A>G	5.37:g.134039521A>G	ENSP00000381823:p.Asn780Ser						p.N780S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2627	+			780					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2339A>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	a	18.03	3.532589	0.64972	.	.	ENSG00000113615	ENST00000398844	T	0.21543	2.0	5.59	4.43	0.53597	Sec23/Sec24 beta-sandwich (1);	0.040458	0.85682	N	0.000000	T	0.28499	0.0705	L	0.33339	1.005	0.80722	D	1	D;D	0.54601	0.967;0.962	P;P	0.56960	0.649;0.81	T	0.01578	-1.1320	10	0.56958	D	0.05	-7.6536	11.6259	0.51145	0.9302:0.0:0.0698:0.0	.	544;780	B4E205;O95486	.;SC24A_HUMAN	S	780	ENSP00000381823:N780S	ENSP00000381823:N780S	N	+	2	0	SEC24A	134067420	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.321000	0.72881	0.957000	0.37930	-0.489000	0.04712	AAC		0.408	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			27	284	0	0	0	1	0	27	284				
C16orf70	80262	broad.mit.edu	37	16	67183522	67183522	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67183522G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Silent_p.G289G	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAAAGCCACCGCCGCCCGCGT	0.672																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(865-867)ggC>ggT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							6.0	9.0	8.0					16																	67183522		2002	4111	6113	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183522G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183522G>A							p.G289G	NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN			2	1402	-			289					Q9HA86	Silent	SNP	ENST00000219139.3	37	c.867C>T	CCDS10828.1																																																																																				0.672	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		12	71	0	0	0	1	0	12	71				
DLGAP1	9229	broad.mit.edu	37	18	3879744	3879744	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3879744G>A	ENST00000315677.3	-	4	920	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	109					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCAGCTGCCGCTCGAACTGG	0.687																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(325-327)Cgg>Tgg		discs, large (Drosophila) homolog-associated protein 1							37.0	42.0	40.0					18																	3879744		2170	4252	6422	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879744G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.325C>T	18.37:g.3879744G>A	ENSP00000316377:p.Arg109Trp					DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W	p.R109W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	920	-		Colorectal(8;0.0257)	109					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.325C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440691	0.63067	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.18016	2.24;2.24	5.62	1.93	0.25924	.	0.052268	0.85682	D	0.000000	T	0.37433	0.1003	M	0.67953	2.075	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.67231	0.798;0.95;0.945	T	0.19549	-1.0302	10	0.87932	D	0	-26.0641	14.8458	0.70259	0.0:0.0:0.434:0.566	.	109;109;109	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	W	109	ENSP00000316377:R109W;ENSP00000445973:R109W	ENSP00000316377:R109W	R	-	1	2	DLGAP1	3869744	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	1.120000	0.31271	0.092000	0.17331	-0.181000	0.13052	CGG		0.687	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			112	484	0	0	0	1	0	112	484				
STRIP1	85369	broad.mit.edu	37	1	110582130	110582130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110582130G>T	ENST00000369795.3	+	5	596	c.574G>T	c.(574-576)Gaa>Taa	p.E192*	STRIP1_ENST00000369796.1_Nonsense_Mutation_p.E97*|STRIP1_ENST00000369794.2_Nonsense_Mutation_p.E192*	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	192					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											TCTGAACATGGAAATAGAGTG	0.532																																						ENST00000369795.3																			0											c.(574-576)Gaa>Taa		striatin interacting protein 1							80.0	67.0	71.0					1																	110582130		2203	4300	6503	SO:0001587	stop_gained	85369							g.chr1:110582130G>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.574G>T	1.37:g.110582130G>T	ENSP00000358810:p.Glu192*					STRIP1_ENST00000369796.1_Nonsense_Mutation_p.E97*|STRIP1_ENST00000369794.2_Nonsense_Mutation_p.E192*	p.E192*	NM_033088.2	NP_149079.2					5	596	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Nonsense_Mutation	SNP	ENST00000369795.3	37	c.574G>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	38	6.818810	0.97861	.	.	ENSG00000143093	ENST00000369796;ENST00000369795;ENST00000369794	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.5442	20.3242	0.98691	0.0:0.0:1.0:0.0	.	.	.	.	X	97;192;192	.	ENSP00000358809:E192X	E	+	1	0	FAM40A	110383653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.427000	0.97472	2.817000	0.96982	0.549000	0.68633	GAA		0.532	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		4	52	1	0	0.184627	1	0.18487	4	52				
NCAPD3	23310	broad.mit.edu	37	11	134037948	134037948	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134037948A>C	ENST00000534548.2	-	27	3580	c.3516T>G	c.(3514-3516)gaT>gaG	p.D1172E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1172					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGCCATGTCATCTTCTTCCA	0.453																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3514-3516)gaT>gaG		non-SMC condensin II complex, subunit D3							254.0	215.0	228.0					11																	134037948		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134037948A>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3516T>G	11.37:g.134037948A>C	ENSP00000433681:p.Asp1172Glu						p.D1172E	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	27	3580	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1172					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3516T>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	a	13.31	2.197632	0.38806	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.66280	-0.2;-0.2;-0.2	5.5	-2.34	0.06704	Armadillo-type fold (1);	0.284386	0.43260	N	0.000584	T	0.40522	0.1120	L	0.32530	0.975	0.80722	D	1	B;B	0.21688	0.032;0.059	B;B	0.19666	0.026;0.017	T	0.08576	-1.0715	10	0.15952	T	0.53	-12.4742	6.7877	0.23682	0.5433:0.1244:0.3322:0.0	.	1172;232	P42695;Q96FA6	CNDD3_HUMAN;.	E	1172;77;208	ENSP00000433681:D1172E;ENSP00000432532:D77E;ENSP00000435173:D208E	ENSP00000432532:D77E	D	-	3	2	NCAPD3	133543158	0.988000	0.35896	0.856000	0.33681	0.856000	0.48823	0.370000	0.20433	-0.722000	0.04922	0.473000	0.43528	GAT		0.453	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		117	548	0	0	0	1	0	117	548				
RIF1	55183	broad.mit.edu	37	2	152322115	152322115	+	Silent	SNP	C	C	T	rs189342229	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322115C>T	ENST00000243326.5	+	29	6564	c.6081C>T	c.(6079-6081)ggC>ggT	p.G2027G	RIF1_ENST00000428287.2_Silent_p.G2027G|RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATGATCGGCGAGGCAATGG	0.418													T|||	9	0.00179712	0.0	0.0	5008	,	,		18646	0.0079		0.001	False		,,,				2504	0.0					ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6079-6081)ggC>ggT		RAP1 interacting factor homolog (yeast)		T	,,,	0,4406		0,0,2203	76.0	68.0	71.0		6081,6081,6081,6081	-4.9	0.0	2		71	1,8599	818.9+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	2027/2447,2027/2447,2027/2447,2027/2473	152322115	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322115C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6081C>T	2.37:g.152322115C>T						RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000428287.2_Silent_p.G2027G	p.G2027G			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6564	+			2027			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.6081C>T	CCDS2194.1																																																																																				0.418	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			9	208	0	0	0	1	0	9	208				
RAB15	376267	broad.mit.edu	37	14	65417744	65417744	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65417744C>T	ENST00000533601.2	-	4	662				CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_Silent_p.P78P|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Intron|RAB15_ENST00000267512.5_Silent_p.P124P			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TTGCCTTCCCCGGTGAGGCAC	0.597																																						ENST00000267512.5																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(370-372)ccG>ccA		RAB15, member RAS oncogene family							65.0	59.0	61.0					14																	65417744		2203	4300	6503	SO:0001627	intron_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417744C>T	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.324+47G>A	14.37:g.65417744C>T						CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Intron|RAB15_ENST00000533601.2_Intron|RAB15_ENST00000436278.2_Silent_p.P78P	p.P124P	NM_198686.2	NP_941959.1	P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	4	452	-			0					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.372G>A																																																																																					0.597	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		10	275	0	0	0	1	0	10	275				
NECAP2	55707	broad.mit.edu	37	1	16770133	16770133	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16770133G>A	ENST00000337132.5	+	2	189	c.99G>A	c.(97-99)gcG>gcA	p.A33A	NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000443980.2_Silent_p.A33A|NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000406746.1_Silent_p.A33A	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	33					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGGCTGCGGAGTGGCAGC	0.572																																						ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(97-99)gcG>gcA		NECAP endocytosis associated 2							35.0	36.0	35.0					1																	16770133		2203	4300	6503	SO:0001819	synonymous_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16770133G>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.99G>A	1.37:g.16770133G>A						NECAP2_ENST00000406746.1_Silent_p.A33A|NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000443980.2_Silent_p.A33A|NECAP2_ENST00000504551.2_Intron	p.A33A	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	2	189	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	33					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	37	c.99G>A	CCDS173.1																																																																																				0.572	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		10	74	0	0	0	1	0	10	74				
NPHS2	7827	broad.mit.edu	37	1	179533830	179533830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179533830C>T	ENST00000367615.4	-	2	441	c.373G>A	c.(373-375)Gta>Ata	p.V125I	NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	125					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.V125L(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACCTTTACGCAGAACCAG	0.478																																						ENST00000367615.4																			1	Substitution - Missense(1)	p.V125L(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(373-375)Gta>Ata		nephrosis 2, idiopathic, steroid-resistant (podocin)							68.0	69.0	69.0					1																	179533830		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179533830C>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.373G>A	1.37:g.179533830C>T	ENSP00000356587:p.Val125Ile					NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	p.V125I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			2	441	-			125					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.373G>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.617261	0.00828	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99470	-5.96;-5.96	5.46	-2.94	0.05581	.	0.267536	0.43416	N	0.000575	D	0.92404	0.7589	N	0.01228	-0.945	0.29344	N	0.86585	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	D	0.91621	0.5311	10	0.02654	T	1	-5.093	4.5848	0.12277	0.2438:0.3541:0.0:0.4022	.	125;125	Q9NP85-2;Q9NP85	.;PODO_HUMAN	I	125	ENSP00000356587:V125I;ENSP00000356588:V125I	ENSP00000356587:V125I	V	-	1	0	NPHS2	177800453	0.998000	0.40836	0.957000	0.39632	0.008000	0.06430	0.215000	0.17562	-0.887000	0.03961	-2.580000	0.00168	GTA		0.478	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			46	234	0	0	0	1	0	46	234				
ZFAND5	7763	broad.mit.edu	37	9	74975027	74975027	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74975027T>C	ENST00000237937.3	-	3	819	c.262A>G	c.(262-264)Aga>Gga	p.R88G	ZFAND5_ENST00000376960.4_Splice_Site_p.R88G|ZFAND5_ENST00000343431.2_Splice_Site_p.R88G|ZFAND5_ENST00000376962.5_Splice_Site_p.R88G|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	88					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						CAATCTTACCTTGATTTTTCA	0.393																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.e3+1		zinc finger, AN1-type domain 5							80.0	79.0	79.0					9																	74975027		2203	4299	6502	SO:0001630	splice_region_variant	0						DNA binding|zinc ion binding	g.chr9:74975027T>C	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.263+1A>G	9.37:g.74975027T>C						ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Splice_Site_p.R88_splice|ZFAND5_ENST00000376960.4_Splice_Site_p.R88_splice|ZFAND5_ENST00000376962.5_Splice_Site_p.R88_splice	p.R88_splice	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			3	819	-			88					A8K484	Splice_Site	SNP	ENST00000237937.3	37	c.263_splice	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169819	0.38315	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	0.424530	0.28908	N	0.013748	T	0.57636	0.2067	L	0.52573	1.65	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.53085	-0.8488	9	0.22706	T	0.39	-12.4801	16.5885	0.84745	0.0:0.0:0.0:1.0	.	88	O76080	ZFAN5_HUMAN	G	88;88;88;88;140	.	ENSP00000237937:R88G	R	-	1	2	ZFAND5	74164847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.784000	0.75084	2.317000	0.78254	0.460000	0.39030	AGA		0.393	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1		Missense_Mutation	7	246	0	0	0	1	0	7	246				
ABCA12	26154	broad.mit.edu	37	2	215876354	215876354	+	Missense_Mutation	SNP	C	C	T	rs558822558		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215876354C>T	ENST00000272895.7	-	17	2360	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	714					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGTTCATTCGGTTGCTTCT	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2140-2142)cGa>cAa		ATP-binding cassette, sub-family A (ABC1), member 12							169.0	163.0	165.0					2																	215876354		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215876354C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2141G>A	2.37:g.215876354C>T	ENSP00000272895:p.Arg714Gln					ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	p.R714Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	17	2360	-		Renal(323;0.127)	714					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2141G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421623	0.11928	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88354	-2.37;-2.37	5.28	3.43	0.39272	.	0.976699	0.08381	N	0.954575	T	0.78201	0.4246	N	0.19112	0.55	0.18873	N	0.999988	B;B	0.30741	0.293;0.085	B;B	0.26517	0.021;0.07	T	0.64071	-0.6493	10	0.11182	T	0.66	.	7.853	0.29466	0.0:0.7415:0.1669:0.0915	.	714;396	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	714;396	ENSP00000272895:R714Q;ENSP00000374312:R396Q	ENSP00000272895:R714Q	R	-	2	0	ABCA12	215584599	0.058000	0.20735	0.006000	0.13384	0.359000	0.29487	0.249000	0.18216	1.352000	0.45808	0.655000	0.94253	CGA		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		111	579	0	0	0	1	0	111	579				
ZNF619	285267	broad.mit.edu	37	3	40528415	40528415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528415C>T	ENST00000314686.5	+	6	771	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ZNF619_ENST00000522736.1_Silent_p.D129D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000521353.1_Silent_p.D178D|ZNF619_ENST00000432264.2_Silent_p.D138D|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000447116.2_Silent_p.D178D			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCACCCTGACTTCAAGGACA	0.443																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(532-534)gaC>gaT		zinc finger protein 619							68.0	67.0	67.0					3																	40528415		2203	4300	6503	SO:0001819	synonymous_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40528415C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.366C>T	3.37:g.40528415C>T						ZNF619_ENST00000432264.2_Silent_p.D138D|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.D129D|ZNF619_ENST00000314686.5_Silent_p.D122D|ZNF619_ENST00000521353.1_Silent_p.D178D	p.D178D	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	841	+			178					B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37	c.534C>T																																																																																					0.443	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		63	295	0	0	0	1	0	63	295				
PRPSAP1	5635	broad.mit.edu	37	17	74324894	74324894	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74324894C>A	ENST00000446526.3	-	7	1130	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	200					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TGAGCTTCCCCGTGAATGACG	0.547																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(685-687)Ggg>Tgg		phosphoribosyl pyrophosphate synthetase-associated protein 1							120.0	84.0	96.0					17																	74324894		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74324894C>A	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.685G>T	17.37:g.74324894C>A	ENSP00000414624:p.Gly229Trp					PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	p.G229W	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			7	1130	-			200					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.685G>T	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	34	5.358148	0.95854	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93677	0.6995	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	200;229	Q14558;Q14558-2	KPRA_HUMAN;.	W	229;126;126;126	ENSP00000414624:G229W;ENSP00000314973:G126W;ENSP00000392838:G126W;ENSP00000387494:G126W	ENSP00000314973:G126W	G	-	1	0	PRPSAP1	71836489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GGG		0.547	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		39	167	1	0	6.29468e-14	1	6.81746e-14	39	167				
TMCO4	255104	broad.mit.edu	37	1	20009753	20009753	+	Missense_Mutation	SNP	G	G	A	rs144713907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20009753G>A	ENST00000294543.6	-	16	1926	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	562						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGGACCCTGGGTTTGCCCAAC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16479	0.001		0.0	False		,,,				2504	0.0					ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1684-1686)aCc>aTc		transmembrane and coiled-coil domains 4							60.0	65.0	63.0					1																	20009753		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20009753G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1685C>T	1.37:g.20009753G>A	ENSP00000294543:p.Thr562Ile					TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I	p.T562I	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	1926	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	562					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1685C>T	CCDS198.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.15	1.553797	0.27739	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.32515	1.46;1.45	4.61	-0.938	0.10412	.	1.360170	0.05067	N	0.480974	T	0.17662	0.0424	L	0.27053	0.805	0.09310	N	1	P;B	0.36438	0.553;0.002	B;B	0.33042	0.157;0.005	T	0.12041	-1.0563	10	0.40728	T	0.16	-13.7287	1.5066	0.02487	0.1655:0.1313:0.3009:0.4022	.	562;522	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	I	562;522	ENSP00000294543:T562I;ENSP00000364264:T522I	ENSP00000294543:T562I	T	-	2	0	TMCO4	19882340	0.000000	0.05858	0.007000	0.13788	0.098000	0.18820	-0.220000	0.09215	-0.415000	0.07484	-0.140000	0.14226	ACC		0.667	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		100	354	0	0	0	1	0	100	354				
USP17L2	377630	broad.mit.edu	37	8	11995503	11995503	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995503A>G	ENST00000333796.3	-	1	1083	c.767T>C	c.(766-768)cTt>cCt	p.L256P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	256	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTGGAGACAAAGACCGCAATG	0.512																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(766-768)cTt>cCt		ubiquitin specific peptidase 17-like family member 2							16.0	20.0	19.0					8																	11995503		1016	2394	3410	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995503A>G	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.767T>C	8.37:g.11995503A>G	ENSP00000333329:p.Leu256Pro					FAM66D_ENST00000434078.2_RNA	p.L256P	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1083	-			256						Missense_Mutation	SNP	ENST00000333796.3	37	c.767T>C	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	0.881	-0.728608	0.03135	.	.	ENSG00000223443	ENST00000333796	T	0.05447	3.44	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	3.392720	0.01228	N	0.008280	T	0.04770	0.0129	N	0.17082	0.46	0.09310	N	0.999999	B	0.14438	0.01	B	0.20184	0.028	T	0.37979	-0.9682	10	0.49607	T	0.09	.	2.5944	0.04850	0.2721:0.3019:0.426:0.0	.	256	Q6R6M4	U17L2_HUMAN	P	256	ENSP00000333329:L256P	ENSP00000333329:L256P	L	-	2	0	USP17L2	12032912	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.357000	0.07651	-1.429000	0.01987	-1.661000	0.00750	CTT		0.512	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		42	418	0	0	0	1	0	42	418				
ELAVL2	1993	broad.mit.edu	37	9	23701384	23701384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23701384G>A	ENST00000397312.2	-	5	980	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	236					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R236G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTAAAACGCTGTGCCTGC	0.458																																						ENST00000397312.2																			1	Substitution - Missense(1)	p.R236G(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(706-708)Cgt>Tgt		ELAV like neuron-specific RNA binding protein 2							256.0	249.0	251.0					9																	23701384		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701384G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.706C>T	9.37:g.23701384G>A	ENSP00000380479:p.Arg236Cys					ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C	p.R236C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	980	-			236					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.706C>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225405	0.58668	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.16073	2.37;2.8;2.8;2.8	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.84948	2.725	0.80722	D	1	B;D	0.76494	0.263;0.999	B;D	0.66497	0.05;0.944	T	0.46978	-0.9152	10	0.54805	T	0.06	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	236;236	Q12926;Q12926-2	ELAV2_HUMAN;.	C	236;236;236;236;236;264	ENSP00000223951:R236C;ENSP00000380479:R236C;ENSP00000440998:R236C;ENSP00000369460:R236C	ENSP00000223951:R236C	R	-	1	0	ELAVL2	23691384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.488000	0.53229	2.812000	0.96745	0.563000	0.77884	CGT		0.458	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		37	911	0	0	0	1	0	37	911				
DDX18	8886	broad.mit.edu	37	2	118583136	118583136	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118583136C>T	ENST00000263239.2	+	10	1610	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	494	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTGAAGTCGACTGGATTG	0.438																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1480-1482)gtC>gtT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							128.0	116.0	120.0					2																	118583136		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118583136C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1482C>T	2.37:g.118583136C>T							p.V494V	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			10	1610	+			494			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1482C>T	CCDS2120.1																																																																																				0.438	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		43	403	0	0	0	1	0	43	403				
TACC2	10579	broad.mit.edu	37	10	123842275	123842275	+	Missense_Mutation	SNP	C	C	T	rs143057039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842275C>T	ENST00000369005.1	+	4	600	c.260C>T	c.(259-261)gCc>gTc	p.A87V	TACC2_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V|TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	87					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACAGGGAGCCAGGGGGCCA	0.642																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(259-261)gCc>gTc		transforming, acidic coiled-coil containing protein 2							70.0	72.0	71.0					10																	123842275		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842275C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.260C>T	10.37:g.123842275C>T	ENSP00000358001:p.Ala87Val					TACC2_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V	p.A87V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	600	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	87					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.260C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798907	0.90538	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.07021	3.38;3.23;3.26;3.38;3.23	5.25	0.929	0.19449	.	0.000000	0.32884	N	0.005531	T	0.05044	0.0135	L	0.34521	1.04	0.09310	N	1	B;B;B	0.21821	0.061;0.061;0.061	B;B;B	0.18263	0.021;0.021;0.021	T	0.34750	-0.9816	10	0.27082	T	0.32	-5.5343	3.659	0.08232	0.1595:0.3586:0.3879:0.094	.	87;87;87	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	87;87;87;87;87;77	ENSP00000358001:A87V;ENSP00000424467:A87V;ENSP00000427618:A87V;ENSP00000334280:A87V;ENSP00000395048:A87V	ENSP00000334280:A87V	A	+	2	0	TACC2	123832265	0.001000	0.12720	0.036000	0.18154	0.854000	0.48673	0.219000	0.17641	0.585000	0.29608	0.557000	0.71058	GCC		0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			94	367	0	0	0	1	0	94	367				
AFAP1L1	134265	broad.mit.edu	37	5	148687146	148687146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148687146G>A	ENST00000296721.4	+	7	815	c.717G>A	c.(715-717)caG>caA	p.Q239Q	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.Q239Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	239	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCAAGCAGCTGACGGTCA	0.592																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(715-717)caG>caA		actin filament associated protein 1-like 1							61.0	49.0	53.0					5																	148687146		2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148687146G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.717G>A	5.37:g.148687146G>A						AFAP1L1_ENST00000515000.1_Silent_p.Q239Q|AFAP1L1_ENST00000522492.1_3'UTR	p.Q239Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	815	+			239			PH 1.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.717G>A	CCDS34274.1																																																																																				0.592	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		46	170	0	0	0	1	0	46	170				
SCG2	7857	broad.mit.edu	37	2	224463355	224463355	+	Missense_Mutation	SNP	G	G	A	rs377214328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463355G>A	ENST00000305409.2	-	2	878	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTCTCACGTTTCTGGTTG	0.423																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(646-648)Cgt>Tgt		secretogranin II		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	214.0	193.0	200.0		646	4.9	1.0	2		200	0,8600	1.2+/-3.3	0,0,4300	no	missense	SCG2	NM_003469.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	216/618	224463355	1,13005	2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463355G>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.646C>T	2.37:g.224463355G>A	ENSP00000304133:p.Arg216Cys						p.R216C	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	878	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	216					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.646C>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.190095	0.21954	2.27E-4	0.0	ENSG00000171951	ENST00000305409	T	0.02369	4.32	5.74	4.86	0.63082	.	0.176089	0.45361	D	0.000371	T	0.12902	0.0313	M	0.66939	2.045	0.51767	D	0.999934	D	0.89917	1.0	D	0.76575	0.988	T	0.00280	-1.1852	10	0.87932	D	0	.	13.072	0.59068	0.0:0.0:0.5598:0.4402	.	216	P13521	SCG2_HUMAN	C	216	ENSP00000304133:R216C	ENSP00000304133:R216C	R	-	1	0	SCG2	224171599	0.994000	0.37717	0.998000	0.56505	0.105000	0.19272	2.047000	0.41269	1.406000	0.46857	0.650000	0.86243	CGT		0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		151	761	0	0	0	1	0	151	761				
KIAA0100	9703	broad.mit.edu	37	17	26969931	26969931	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26969931A>C	ENST00000528896.2	-	5	545	c.471T>G	c.(469-471)atT>atG	p.I157M	KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	157						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TACTGATCTGAATATGCCATA	0.438																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(469-471)atT>atG		KIAA0100							119.0	111.0	113.0					17																	26969931		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26969931A>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.471T>G	17.37:g.26969931A>C	ENSP00000436773:p.Ile157Met					KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M	p.I157M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			5	545	-	Lung NSC(42;0.00431)		157					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.471T>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021157	0.19433	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25085	1.83;1.82	5.39	-1.97	0.07503	FMP27, N-terminal (1);	0.044276	0.85682	D	0.000000	T	0.12603	0.0306	N	0.11201	0.11	0.27554	N	0.950413	P;P;B	0.45715	0.865;0.607;0.025	P;B;B	0.46585	0.521;0.28;0.023	T	0.20974	-1.0259	10	0.36615	T	0.2	.	4.6376	0.12531	0.2117:0.1394:0.5128:0.1361	.	14;157;157	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	M	157;157;157;14	ENSP00000436773:I157M;ENSP00000446443:I14M	ENSP00000005905:I157M	I	-	3	3	KIAA0100	23994058	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	1.681000	0.37618	-0.440000	0.07211	-1.400000	0.01143	ATT		0.438	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		49	244	0	0	0	1	0	49	244				
FAM65A	79567	broad.mit.edu	37	16	67574550	67574550	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67574550G>A	ENST00000379312.3	+	10	877	c.756G>A	c.(754-756)gtG>gtA	p.V252V	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000042381.4_Silent_p.V248V|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Silent_p.V268V|FAM65A_ENST00000540839.3_Silent_p.V268V|FAM65A_ENST00000428437.2_Silent_p.V262V|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	252						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GAAAGCAGGTGTGGGACAGTG	0.542																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(802-804)gtG>gtA		family with sequence similarity 65, member A							248.0	219.0	229.0					16																	67574550		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67574550G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.756G>A	16.37:g.67574550G>A						FAM65A_ENST00000422602.2_Silent_p.V268V|FAM65A_ENST00000379312.3_Silent_p.V252V|FAM65A_ENST00000428437.2_Silent_p.V262V|FAM65A_ENST00000042381.4_Silent_p.V248V|FAM65A_ENST00000566522.1_3'UTR	p.V268V			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	11	1024	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	252					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.804G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410593	0.25465	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.42	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74405	-0.3676	6	0.51188	T	0.08	-9.3239	14.4179	0.67163	0.0:0.0:0.732:0.268	.	.	.	.	M	243	.	ENSP00000389456:V243M	V	+	1	0	FAM65A	66132051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.390000	0.66261	1.253000	0.44018	0.555000	0.69702	GTG		0.542	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		120	567	0	0	0	1	0	120	567				
APBB1	322	broad.mit.edu	37	11	6432329	6432329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6432329G>A	ENST00000609360.1	-	2	348	c.249C>T	c.(247-249)gcC>gcT	p.A83A	APBB1_ENST00000389906.2_Silent_p.A83A|APBB1_ENST00000299402.6_Silent_p.A83A|APBB1_ENST00000311051.3_Silent_p.A83A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	83					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCACGGTGGGCCGTGGCGG	0.662																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(247-249)gcC>gcT		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							88.0	104.0	98.0					11																	6432329		2201	4296	6497	SO:0001819	synonymous_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432329G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.249C>T	11.37:g.6432329G>A						APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Silent_p.A83A|APBB1_ENST00000311051.3_Silent_p.A83A	p.A83A	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	348	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	83					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.249C>T																																																																																					0.662	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		62	1474	0	0	0	1	0	62	1474				
CA3	761	broad.mit.edu	37	8	86352068	86352068	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86352068C>A	ENST00000285381.2	+	2	245	c.162C>A	c.(160-162)ggC>ggA	p.G54G	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	54					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	ATGATGGTGGCTCTGCCAAGA	0.463																																						ENST00000285381.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(160-162)ggC>ggA		carbonic anhydrase III, muscle specific							115.0	97.0	103.0					8																	86352068		2203	4300	6503	SO:0001819	synonymous_variant	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86352068C>A	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.162C>A	8.37:g.86352068C>A							p.G54G	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN			2	245	+			54					B2R867|B3KUC8|O60842	Silent	SNP	ENST00000285381.2	37	c.162C>A	CCDS6238.1																																																																																				0.463	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		64	288	1	0	3.8128e-34	1	4.53067e-34	64	288				
CDH2	1000	broad.mit.edu	37	18	25565534	25565534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25565534G>A	ENST00000269141.3	-	12	2356	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	CDH2_ENST00000399380.3_Missense_Mutation_p.P614S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	645	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATAGTCACTGGAGATAAAGGA	0.373																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1933-1935)Cca>Tca		cadherin 2, type 1, N-cadherin (neuronal)							74.0	74.0	74.0					18																	25565534		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565534G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1933C>T	18.37:g.25565534G>A	ENSP00000269141:p.Pro645Ser					CDH2_ENST00000399380.3_Missense_Mutation_p.P614S	p.P645S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			12	2356	-			645			Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1933C>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597282	0.46318	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.51325	0.71;0.71	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47446	-0.9117	10	0.06494	T	0.89	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	614;645	A8MWK3;P19022	.;CADH2_HUMAN	S	645;614	ENSP00000269141:P645S;ENSP00000382312:P614S	ENSP00000269141:P645S	P	-	1	0	CDH2	23819532	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.414000	0.97362	2.830000	0.97506	0.585000	0.79938	CCA		0.373	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		35	218	0	0	0	1	0	35	218				
NGRN	51335	broad.mit.edu	37	15	90809089	90809089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90809089G>A	ENST00000379095.3	+	1	153	c.145G>A	c.(145-147)Gag>Aag	p.E49K	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	49					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGAGGAACGGGAGCTGCAGGA	0.751																																						ENST00000379095.3																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(145-147)Gag>Aag		neugrin, neurite outgrowth associated							7.0	10.0	9.0					15																	90809089		2143	4177	6320	SO:0001583	missense	51335				neuron differentiation	extracellular region|nucleus		g.chr15:90809089G>A	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.145G>A	15.37:g.90809089G>A	ENSP00000368389:p.Glu49Lys					NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	p.E49K	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		1	153	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		49					B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	ENST00000379095.3	37	c.145G>A	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331857	0.41297	.	.	ENSG00000182768	ENST00000379095	T	0.30981	1.51	4.77	3.86	0.44501	.	0.104340	0.36591	U	0.002516	T	0.27134	0.0665	L	0.32530	0.975	0.32686	N	0.514831	P	0.43094	0.799	P	0.50537	0.643	T	0.14643	-1.0465	10	0.07030	T	0.85	.	8.6983	0.34310	0.1017:0.0:0.8983:0.0	.	49	Q9NPE2	NGRN_HUMAN	K	49	ENSP00000368389:E49K	ENSP00000368389:E49K	E	+	1	0	NGRN	88610093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.552000	0.45828	1.250000	0.43966	0.655000	0.94253	GAG		0.751	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1			22	81	0	0	0	1	0	22	81				
PPP2R5D	5528	broad.mit.edu	37	6	42974254	42974254	+	Silent	SNP	G	G	A	rs141996737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974254G>A	ENST00000485511.1	+	3	338	c.159G>A	c.(157-159)ccG>ccA	p.P53P	PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Silent_p.P53P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	53			P -> S (found in a patient with delayed psychomotor development, no speech and cataracts). {ECO:0000269|PubMed:23033978}.		carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ctcagccACCGTCATCCAACA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11068	0.0		0.0	False		,,,				2504	0.0				Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(157-159)ccG>ccA		protein phosphatase 2, regulatory subunit B', delta		G	,,	2,4404	4.2+/-10.8	0,2,2201	48.0	57.0	54.0		159,159,	-10.7	0.0	6	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron	PPP2R5D	NM_006245.2,NM_180976.1,NM_180977.1	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	53/603,53/571,	42974254	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42974254G>A	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.159G>A	6.37:g.42974254G>A						PPP2R5D_ENST00000394110.3_Silent_p.P53P|PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000461010.1_Intron	p.P53P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	338	+			53					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.159G>A	CCDS4878.1																																																																																				0.612	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		33	601	0	0	0	1	0	33	601				
SIGLEC1	6614	broad.mit.edu	37	20	3678683	3678683	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3678683G>A	ENST00000344754.4	-	8	1883	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	SIGLEC1_ENST00000202578.4_Silent_p.S628S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	628	Ig-like C2-type 6.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGGGGGGTCGCTGTCCACAC	0.677																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1882-1884)agC>agT		sialic acid binding Ig-like lectin 1, sialoadhesin							17.0	19.0	18.0					20																	3678683		2196	4292	6488	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3678683G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1884C>T	20.37:g.3678683G>A						SIGLEC1_ENST00000202578.4_Silent_p.S628S	p.S628S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			8	1883	-			628			Ig-like C2-type 6.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.1884C>T	CCDS13060.1																																																																																				0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		32	141	0	0	0	1	0	32	141				
CTIF	9811	broad.mit.edu	37	18	46145986	46145986	+	Missense_Mutation	SNP	G	G	A	rs199996585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46145986G>A	ENST00000256413.3	+	2	345	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CTIF_ENST00000382998.4_Missense_Mutation_p.R17H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	17	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGAGCAGCCGCTCCCAGGAG	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		17495	0.001		0.001	False		,,,				2504	0.0					ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(49-51)cGc>cAc		CBP80/20-dependent translation initiation factor							26.0	23.0	24.0					18																	46145986		2201	4297	6498	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46145986G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.50G>A	18.37:g.46145986G>A	ENSP00000256413:p.Arg17His					CTIF_ENST00000382998.4_Missense_Mutation_p.R17H	p.R17H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			2	345	+			17			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.50G>A	CCDS11935.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	31	5.067570	0.93898	.	.	ENSG00000134030	ENST00000256413;ENST00000382998	T;T	0.57595	0.39;0.4	5.1	5.1	0.69264	.	0.338109	0.21582	N	0.072233	T	0.66616	0.2807	L	0.39898	1.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.69624	-0.5095	10	0.87932	D	0	.	18.1461	0.89655	0.0:0.0:1.0:0.0	.	17;17	O43310-2;O43310	.;CTIF_HUMAN	H	17	ENSP00000256413:R17H;ENSP00000372459:R17H	ENSP00000256413:R17H	R	+	2	0	CTIF	44399984	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.420000	0.97426	2.365000	0.80145	0.442000	0.29010	CGC		0.637	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		10	52	0	0	0	1	0	10	52				
WDR1	9948	broad.mit.edu	37	4	10080531	10080531	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10080531A>G	ENST00000499869.2	-	12	1572	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A	WDR1_ENST00000382452.2_Missense_Mutation_p.V460A|WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000515743.1_5'UTR|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A			O75083	WDR1_HUMAN	WD repeat domain 1	460					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAATTGCCACCGTGTCCCC	0.597																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1378-1380)gTg>gCg		WD repeat domain 1							80.0	97.0	91.0					4																	10080531		2013	4173	6186	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10080531A>G	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1379T>C	4.37:g.10080531A>G	ENSP00000427687:p.Val460Ala					WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.V460A	p.V460A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	12	1661	-			460					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.1379T>C	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	A	7.711	0.695137	0.15039	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.54479	0.57;0.57;0.78;0.78	4.65	3.3	0.37823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.238849	0.42172	D	0.000747	T	0.37652	0.1011	L	0.33710	1.025	0.58432	D	0.999998	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.24261	-1.0165	10	0.36615	T	0.2	-18.0285	8.0394	0.30513	0.8561:0.0:0.1439:0.0	.	320;460	O75083-3;O75083	.;WDR1_HUMAN	A	460;460;320;320;295	ENSP00000427687:V460A;ENSP00000371890:V460A;ENSP00000371889:V320A;ENSP00000426725:V320A	ENSP00000371889:V320A	V	-	2	0	WDR1	9689629	0.996000	0.38824	0.986000	0.45419	0.052000	0.14988	2.015000	0.40961	1.864000	0.54056	0.379000	0.24179	GTG		0.597	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			44	191	0	0	0	1	0	44	191				
NUP205	23165	broad.mit.edu	37	7	135285644	135285644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135285644G>A	ENST00000285968.6	+	16	2327	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	767					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGGTTTTGGAGGTGTTTTATA	0.373																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2299-2301)gaG>gaA		nucleoporin 205kDa							155.0	152.0	153.0					7																	135285644		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135285644G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2301G>A	7.37:g.135285644G>A						NUP205_ENST00000440390.2_3'UTR	p.E767E	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			16	2327	+			767					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.2301G>A	CCDS34759.1																																																																																				0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			51	310	0	0	0	1	0	51	310				
SLC22A8	9376	broad.mit.edu	37	11	62760994	62760994	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62760994G>T	ENST00000336232.2	-	10	1566	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	SLC22A8_ENST00000430500.2_Silent_p.I477I|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000545207.1_Silent_p.I386I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000535878.1_Silent_p.I354I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	477					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGATCCCGTAGATGATATTGG	0.582																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1429-1431)atC>atA		solute carrier family 22 (organic anion transporter), member 8							99.0	95.0	96.0					11																	62760994		2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760994G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1431C>A	11.37:g.62760994G>T						SLC22A8_ENST00000430500.2_Silent_p.I477I|SLC22A8_ENST00000535878.1_Silent_p.I354I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000545207.1_Silent_p.I386I	p.I477I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			10	1566	-			477					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.1431C>A	CCDS8042.1																																																																																				0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		96	408	1	0	4.69036e-40	1	5.68068e-40	96	408				
ZNF517	340385	broad.mit.edu	37	8	146033667	146033667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146033667G>A	ENST00000531720.1	+	4	1411	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	ZNF517_ENST00000359971.3_Missense_Mutation_p.A456T|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCGGTGCCGCGCCTGCGGGAG	0.721																																						ENST00000359971.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1366-1368)Gcc>Acc		zinc finger protein 517							9.0	11.0	11.0					8																	146033667		2167	4272	6439	SO:0001583	missense	340385				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146033667G>A	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1366G>A	8.37:g.146033667G>A	ENSP00000436103:p.Ala456Thr					ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.A456T	p.A456T	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		5	1473	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		456						Missense_Mutation	SNP	ENST00000531720.1	37	c.1366G>A	CCDS6434.1	.	.	.	.	.	.	.	.	.	.	G	6.454	0.451993	0.12283	.	.	ENSG00000197363	ENST00000359971;ENST00000531720	T;T	0.18016	2.24;2.24	2.44	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07593	0.0191	N	0.05554	-0.025	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.32402	-0.9908	9	0.52906	T	0.07	.	4.193	0.10430	0.142:0.0:0.6311:0.2269	.	456	Q6ZMY9	ZN517_HUMAN	T	456	ENSP00000353058:A456T;ENSP00000436103:A456T	ENSP00000353058:A456T	A	+	1	0	ZNF517	146004471	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.863000	0.04259	-0.038000	0.13624	-0.268000	0.10319	GCC		0.721	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		17	63	0	0	0	1	0	17	63				
FOXP1	27086	broad.mit.edu	37	3	71096168	71096168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71096168G>T	ENST00000318789.4	-	10	1114	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M|FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	197	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCAAAGACAGGAGGTGCTGC	0.517			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(589-591)Ctg>Atg		forkhead box P1							134.0	133.0	133.0					3																	71096168		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096168G>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.589C>A	3.37:g.71096168G>T	ENSP00000318902:p.Leu197Met					FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M	p.L197M	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1114	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	197			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.589C>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118467	0.77323	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.49139	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.62;0.79	6.03	4.23	0.50019	.	0.226640	0.38959	N	0.001509	T	0.66208	0.2766	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.995	D;D;D;D	0.78314	0.991;0.986;0.969;0.969	T	0.67612	-0.5626	10	0.54805	T	0.06	.	13.3988	0.60870	0.1291:0.0:0.8709:0.0	.	196;197;121;197	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	M	197;97;197;197;93;199;197;197;121;197;97;97	ENSP00000318902:L197M;ENSP00000419393:L197M;ENSP00000418225:L93M;ENSP00000420736:L199M;ENSP00000418524:L197M;ENSP00000418102:L197M;ENSP00000417857:L121M;ENSP00000418883:L197M;ENSP00000417941:L97M;ENSP00000418784:L97M	ENSP00000318902:L197M	L	-	1	2	FOXP1	71178858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.976000	0.63785	0.855000	0.35359	0.655000	0.94253	CTG		0.517	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		207	720	1	0	5.26391e-89	1	6.75409e-89	207	720				
TAPT1	202018	broad.mit.edu	37	4	16192999	16192999	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:16192999G>T	ENST00000405303.2	-	4	680	c.597C>A	c.(595-597)atC>atA	p.I199I	TAPT1_ENST00000304584.8_Silent_p.I25I|TAPT1_ENST00000399920.3_Silent_p.I88I|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	199					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GCATGTTGTAGATGATGTAGA	0.483																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.(595-597)atC>atA		transmembrane anterior posterior transformation 1							55.0	53.0	54.0					4																	16192999		1969	4165	6134	SO:0001819	synonymous_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16192999G>T	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.597C>A	4.37:g.16192999G>T						TAPT1_ENST00000304584.8_Silent_p.I25I|TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Silent_p.I88I	p.I199I	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			4	680	-			199					Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	c.597C>A	CCDS47030.1																																																																																				0.483	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		13	41	1	0	4.36969e-10	1	4.6211e-10	13	41				
SUSD1	64420	broad.mit.edu	37	9	114825286	114825286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114825286A>C	ENST00000374270.3	-	13	1953	c.1781T>G	c.(1780-1782)tTt>tGt	p.F594C	SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	594						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTGCACCGTAAAAAATTCTAC	0.483																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1780-1782)tTt>tGt		sushi domain containing 1							115.0	122.0	119.0					9																	114825286		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114825286A>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1781T>G	9.37:g.114825286A>C	ENSP00000363388:p.Phe594Cys					SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C	p.F594C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			13	1953	-			594					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1781T>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.38|12.38	1.921354|1.921354	0.33908|0.33908	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|T	0.29917|0.52295	1.55;1.55;1.55|0.67	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.349077|0.349077	0.20881|0.20881	N|N	0.083985|0.083985	T|T	0.55784|0.55784	0.1942|0.1942	L|L	0.59436|0.59436	1.845|1.845	0.29950|0.29950	N|N	0.820311|0.820311	D;D;D|.	0.67145|.	0.996;0.969;0.988|.	P;P;P|.	0.56216|.	0.794;0.719;0.533|.	T|T	0.60767|0.60767	-0.7198|-0.7198	10|8	0.59425|0.72032	D|D	0.04|0.01	-5.4508|-5.4508	12.8644|12.8644	0.57932|0.57932	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	594;594;594|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|L	594|577	ENSP00000363388:F594C;ENSP00000363381:F594C;ENSP00000363382:F594C|ENSP00000347558:F577L	ENSP00000363381:F594C|ENSP00000347558:F577L	F|F	-|-	2|3	0|2	SUSD1|SUSD1	113865107|113865107	0.454000|0.454000	0.25728|0.25728	0.226000|0.226000	0.23910|0.23910	0.005000|0.005000	0.04900|0.04900	2.006000|2.006000	0.40874|0.40874	2.031000|2.031000	0.59945|0.59945	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.483	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		109	376	0	0	0	1	0	109	376				
PARP16	54956	broad.mit.edu	37	15	65578689	65578689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65578689G>A	ENST00000444347.2	-	1	492	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	PARP16_ENST00000261888.6_Missense_Mutation_p.L26F|SNORA24_ENST00000384176.1_RNA|PARP16_ENST00000558873.1_Intron			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	26	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAGGCGAAGAGGCTGCACCGG	0.726																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(76-78)Ctc>Ttc		poly (ADP-ribose) polymerase family, member 16							8.0	10.0	9.0					15																	65578689		2173	4272	6445	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65578689G>A	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.76C>T	15.37:g.65578689G>A	ENSP00000396118:p.Leu26Phe					PARP16_ENST00000444347.2_Missense_Mutation_p.L26F|PARP16_ENST00000558873.1_Intron	p.L26F	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			1	521	-			26					Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.76C>T		.	.	.	.	.	.	.	.	.	.	G	10.84	1.462976	0.26248	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.60171	0.43;0.21	3.29	-0.0327	0.13904	.	0.234953	0.36482	N	0.002573	T	0.47322	0.1439	L	0.59436	1.845	0.28420	N	0.917767	B;B;B	0.28178	0.202;0.0;0.039	B;B;B	0.29663	0.105;0.003;0.049	T	0.41787	-0.9489	10	0.45353	T	0.12	-10.0549	6.6763	0.23095	0.4103:0.0:0.5897:0.0	.	26;26;26	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	F	26	ENSP00000261888:L26F;ENSP00000396118:L26F	ENSP00000261888:L26F	L	-	1	0	PARP16	63365742	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.199000	0.42715	0.131000	0.18576	-0.481000	0.04817	CTC		0.726	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		16	82	0	0	0	1	0	16	82				
SPECC1	92521	broad.mit.edu	37	17	20156861	20156861	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20156861T>C	ENST00000261503.5	+	10	2693	c.2642T>C	c.(2641-2643)gTg>gCg	p.V881A	SPECC1_ENST00000395530.2_Missense_Mutation_p.V800A|SPECC1_ENST00000536879.1_Missense_Mutation_p.V221A|SPECC1_ENST00000395527.4_Missense_Mutation_p.V881A|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	881					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGCAGAGGGGTGACTCAACGC	0.468																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2398-2400)gTg>gCg		sperm antigen with calponin homology and coiled-coil domains 1							101.0	81.0	88.0					17																	20156861		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20156861T>C	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2642T>C	17.37:g.20156861T>C	ENSP00000261503:p.Val881Ala					SPECC1_ENST00000395527.4_Missense_Mutation_p.V881A|SPECC1_ENST00000536879.1_Missense_Mutation_p.V221A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.V881A	p.V800A	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	8	2607	+			881					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2399T>C	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	0.142	-1.101448	0.01828	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.44482	0.92;0.92	4.68	-3.92	0.04155	.	0.799614	0.11692	N	0.538767	T	0.17577	0.0422	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.31420	-0.9944	10	0.07813	T	0.8	-0.8192	1.832	0.03132	0.1337:0.3288:0.1377:0.3998	.	881;800;881	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	A	881;881;221;800	ENSP00000261503:V881A;ENSP00000438294:V221A	ENSP00000261503:V881A	V	+	2	0	SPECC1	20097453	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.438000	0.06905	-0.947000	0.03673	-0.263000	0.10527	GTG		0.468	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		32	191	0	0	0	1	0	32	191				
CDK5RAP2	55755	broad.mit.edu	37	9	123206003	123206003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123206003C>T	ENST00000349780.4	-	23	3222	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T|CDK5RAP2_ENST00000359309.3_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1015	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGGTAGGCTGCTCCCACAGGG	0.453																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(3043-3045)Gca>Aca		CDK5 regulatory subunit associated protein 2							124.0	113.0	117.0					9																	123206003		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123206003C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3043G>A	9.37:g.123206003C>T	ENSP00000343818:p.Ala1015Thr					CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T	p.A1015T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			23	3222	-			1015			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.3043G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344123	0.05208	.	.	ENSG00000136861	ENST00000360822;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T	0.19669	3.8;3.81;3.71;2.13	4.71	-4.33	0.03677	.	1.501350	0.03992	N	0.295015	T	0.10165	0.0249	N	0.11560	0.145	0.25863	N	0.983799	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.003;0.001;0.003	T	0.27365	-1.0076	10	0.33141	T	0.24	.	5.7024	0.17889	0.0:0.2131:0.4026:0.3843	.	784;983;1015;1015;409	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	T	983;1015;1015;409;787	ENSP00000354065:A983T;ENSP00000343818:A1015T;ENSP00000353317:A1015T;ENSP00000400395:A409T	ENSP00000341695:A787T	A	-	1	0	CDK5RAP2	122245824	0.212000	0.23540	0.113000	0.21522	0.317000	0.28152	-0.748000	0.04818	-0.899000	0.03901	-0.371000	0.07208	GCA		0.453	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		74	415	0	0	0	1	0	74	415				
BYSL	705	broad.mit.edu	37	6	41895197	41895197	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41895197C>T	ENST00000230340.4	+	2	729	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	118					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCAGCGGGCCATCATGCAG	0.562																																						ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(352-354)ggC>ggT		bystin-like							140.0	125.0	130.0					6																	41895197		2203	4300	6503	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41895197C>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.354C>T	6.37:g.41895197C>T							p.G118G	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	729	+	Colorectal(47;0.121)		118					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.354C>T	CCDS34450.1																																																																																				0.562	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			73	370	0	0	0	1	0	73	370				
SPACA1	81833	broad.mit.edu	37	6	88768475	88768475	+	Missense_Mutation	SNP	G	G	A	rs562991674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88768475G>A	ENST00000237201.1	+	4	526	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	137					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTTAGATTGGCATGTATTCA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.001					ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(409-411)Gca>Aca		sperm acrosome associated 1							99.0	101.0	100.0					6																	88768475		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88768475G>A	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.409G>A	6.37:g.88768475G>A	ENSP00000237201:p.Ala137Thr						p.A137T	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	4	526	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	137						Missense_Mutation	SNP	ENST00000237201.1	37	c.409G>A	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793520	0.31685	.	.	ENSG00000118434	ENST00000237201	T	0.23950	1.88	5.86	1.49	0.22878	.	0.672852	0.14875	N	0.293339	T	0.05227	0.0139	N	0.25647	0.755	0.09310	N	1	B	0.24823	0.112	B	0.27380	0.079	T	0.36065	-0.9763	10	0.28530	T	0.3	-3.0372	4.0794	0.09919	0.0749:0.342:0.3269:0.2563	.	137	Q9HBV2	SACA1_HUMAN	T	137	ENSP00000237201:A137T	ENSP00000237201:A137T	A	+	1	0	SPACA1	88825194	0.001000	0.12720	0.040000	0.18447	0.769000	0.43574	0.001000	0.13038	0.760000	0.33108	0.650000	0.86243	GCA		0.333	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			47	224	0	0	0	1	0	47	224				
EPB41L3	23136	broad.mit.edu	37	18	5428405	5428405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5428405G>A	ENST00000341928.2	-	9	1312	c.972C>T	c.(970-972)cgC>cgT	p.R324R	EPB41L3_ENST00000400111.3_Silent_p.R324R|EPB41L3_ENST00000342933.3_Silent_p.R324R|EPB41L3_ENST00000540638.2_Silent_p.R324R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.R324R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	324	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCAGCCGGTCGCGATATATCA	0.413																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(970-972)cgC>cgT		erythrocyte membrane protein band 4.1-like 3							137.0	142.0	141.0					18																	5428405		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428405G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.972C>T	18.37:g.5428405G>A						EPB41L3_ENST00000342933.3_Silent_p.R324R|EPB41L3_ENST00000544123.1_Silent_p.R324R|EPB41L3_ENST00000400111.3_Silent_p.R324R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Silent_p.R324R	p.R324R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1312	-			324			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.972C>T	CCDS11838.1																																																																																				0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		25	757	0	0	0	1	0	25	757				
MAP4	4134	broad.mit.edu	37	3	47912583	47912583	+	Missense_Mutation	SNP	C	C	T	rs371272228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47912583C>T	ENST00000360240.6	-	13	3097	c.2579G>A	c.(2578-2580)cGc>cAc	p.R860H	MAP4_ENST00000264724.11_Missense_Mutation_p.R595H|MAP4_ENST00000420772.2_Missense_Mutation_p.R591H|MAP4_ENST00000426837.2_Missense_Mutation_p.R2005H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H|MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	860					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GCTCTTTGGGCGACTCAAGTC	0.567																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(6013-6015)cGc>cAc		microtubule-associated protein 4		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	72.0	77.0	76.0		2579,2579	3.9	0.7	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAP4	NM_001134364.1,NM_002375.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	860/1136,860/1153	47912583	1,13005	2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47912583C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2579G>A	3.37:g.47912583C>T	ENSP00000353375:p.Arg860His					MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H|MAP4_ENST00000420772.2_Missense_Mutation_p.R591H|MAP4_ENST00000360240.6_Missense_Mutation_p.R860H|MAP4_ENST00000264724.11_Missense_Mutation_p.R595H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H	p.R2005H			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	15	6101	-			860					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.6014G>A	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432443	0.83776	0.0	1.16E-4	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.36157	2.82;1.3;2.93;3.09;2.92;2.08;2.0;1.27	5.65	3.88	0.44766	.	.	.	.	.	T	0.57695	0.2071	M	0.72894	2.215	0.25677	N	0.985832	D;D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;1.0;0.066	D;D;D;D;D;B	0.97110	0.995;1.0;1.0;0.999;0.999;0.01	T	0.49707	-0.8911	9	0.66056	D	0.02	-1.0124	11.2513	0.49028	0.0:0.8533:0.0:0.1467	.	591;595;860;860;595;588	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1	.;.;.;MAP4_HUMAN;.;.	H	588;595;860;2005;860;591;226;12;595	ENSP00000373243:R588H;ENSP00000264724:R595H;ENSP00000379083:R860H;ENSP00000407602:R2005H;ENSP00000353375:R860H;ENSP00000409731:R591H;ENSP00000334770:R226H;ENSP00000415130:R12H	ENSP00000264724:R595H	R	-	2	0	MAP4	47887587	1.000000	0.71417	0.705000	0.30386	0.968000	0.65278	4.674000	0.61612	0.754000	0.32968	0.655000	0.94253	CGC		0.567	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		99	413	0	0	0	1	0	99	413				
TXNDC17	84817	broad.mit.edu	37	17	6544417	6544417	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6544417G>T	ENST00000250101.5	+	1	340	c.15G>T	c.(13-15)gaG>gaT	p.E5D	TXNDC17_ENST00000570330.1_Missense_Mutation_p.E5D|KIAA0753_ENST00000572370.1_5'Flank|TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D|KIAA0753_ENST00000361413.3_5'Flank	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17	5					oxidation-reduction process (GO:0055114)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|peroxidase activity (GO:0004601)|protein-disulfide reductase activity (GO:0047134)			endometrium(1)|kidney(1)|ovary(1)	3						CCCGCTATGAGGAGGTGAGCG	0.652																																						ENST00000250101.5																			0				endometrium(1)|kidney(1)|ovary(1)	3						c.(13-15)gaG>gaT		thioredoxin domain containing 17							28.0	28.0	28.0					17																	6544417		2203	4300	6503	SO:0001583	missense	84817				tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity	g.chr17:6544417G>T	BC006405	CCDS11077.1	17p13.2	2007-08-16	2007-08-16	2007-08-16	ENSG00000129235	ENSG00000129235			28218	protein-coding gene	gene with protein product	"""thioredoxin (Trx)-related protein, 14 kDa"""		"""thioredoxin-like 5"""	TXNL5		14607844, 14607843	Standard	NM_032731		Approved	MGC14353, TRP14	uc002gdf.4	Q9BRA2	OTTHUMG00000102053	ENST00000250101.5:c.15G>T	17.37:g.6544417G>T	ENSP00000250101:p.Glu5Asp					TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D|TXNDC17_ENST00000570330.1_Missense_Mutation_p.E5D	p.E5D	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN			1	340	+			5					A8K7E8	Missense_Mutation	SNP	ENST00000250101.5	37	c.15G>T	CCDS11077.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712972	0.30413	.	.	ENSG00000129235	ENST00000250101	.	.	.	5.17	0.693	0.18056	Thioredoxin-like fold (2);	0.104888	0.64402	D	0.000005	T	0.55226	0.1907	M	0.77616	2.38	0.41089	D	0.985587	B	0.13594	0.008	B	0.08055	0.003	T	0.48317	-0.9046	9	0.51188	T	0.08	-1.5413	4.211	0.10512	0.3585:0.0:0.4922:0.1493	.	5	Q9BRA2	TXD17_HUMAN	D	5	.	ENSP00000250101:E5D	E	+	3	2	TXNDC17	6485141	1.000000	0.71417	0.309000	0.25155	0.114000	0.19823	0.547000	0.23299	-0.009000	0.14296	-0.251000	0.11542	GAG		0.652	TXNDC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219854.2	NM_032731		32	137	1	0	8.16721e-17	1	8.9905e-17	32	137				
OSBPL8	114882	broad.mit.edu	37	12	76749729	76749729	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76749729G>T	ENST00000261183.3	-	24	3089	c.2610C>A	c.(2608-2610)gaC>gaA	p.D870E	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	870					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.D870E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGATGAAGTAGTCTTTTTGTT	0.328																																						ENST00000261183.3																			1	Substitution - Missense(1)	p.D870E(1)	breast(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(2608-2610)gaC>gaA		oxysterol binding protein-like 8							90.0	92.0	91.0					12																	76749729		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76749729G>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2610C>A	12.37:g.76749729G>T	ENSP00000261183:p.Asp870Glu					OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E|OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E	p.D870E	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			24	3089	-			870					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2610C>A	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578119	0.28180	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.29142	1.6;1.58;1.6	6.06	4.2	0.49525	.	2.308210	0.00932	N	0.002729	T	0.23492	0.0568	N	0.24115	0.695	0.37192	D	0.903997	B	0.06786	0.001	B	0.06405	0.002	T	0.40720	-0.9548	10	0.02654	T	1	-8.2239	11.7761	0.51987	0.064:0.0:0.8122:0.1238	.	870	Q9BZF1	OSBL8_HUMAN	E	828;870;855;828	ENSP00000376939:D828E;ENSP00000261183:D870E;ENSP00000376940:D828E	ENSP00000261183:D870E	D	-	3	2	OSBPL8	75273860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.489000	0.53237	0.856000	0.35383	0.655000	0.94253	GAC		0.328	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		34	198	1	0	4.65686e-17	1	5.13078e-17	34	198				
UNC5C	8633	broad.mit.edu	37	4	96140199	96140199	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96140199T>C	ENST00000453304.1	-	9	1914	c.1566A>G	c.(1564-1566)ctA>ctG	p.L522L	UNC5C_ENST00000506749.1_Silent_p.L541L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	522					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCCTTGCTAGACTCTGGT	0.502																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1564-1566)ctA>ctG		unc-5 homolog C (C. elegans)							145.0	114.0	125.0					4																	96140199		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140199T>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1566A>G	4.37:g.96140199T>C						UNC5C_ENST00000506749.1_Silent_p.L541L	p.L522L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1914	-		Hepatocellular(203;0.114)	522					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1566A>G	CCDS3643.1																																																																																				0.502	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		82	358	0	0	0	1	0	82	358				
NINL	22981	broad.mit.edu	37	20	25470535	25470535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25470535G>A	ENST00000278886.6	-	12	1645	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	NINL_ENST00000422516.1_Silent_p.D524D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	524					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAAACTCCAGGTCCTTCTGCA	0.597																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1570-1572)gaC>gaT		ninein-like							169.0	153.0	159.0					20																	25470535		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25470535G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1572C>T	20.37:g.25470535G>A						NINL_ENST00000422516.1_Silent_p.D524D	p.D524D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			12	1645	-			524					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.1572C>T	CCDS33452.1																																																																																				0.597	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		124	498	0	0	0	1	0	124	498				
ZNF773	374928	broad.mit.edu	37	19	58018743	58018743	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018743G>A	ENST00000282292.4	+	4	1420	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TTTCGCCACAGCTCCAGTCTT	0.413																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1279-1281)aGc>aAc		zinc finger protein 773							64.0	67.0	66.0					19																	58018743		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018743G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1280G>A	19.37:g.58018743G>A	ENSP00000282292:p.Ser427Asn					ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N	p.S427N	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	1420	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	427					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.1280G>A	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.733	-0.493537	0.04322	.	.	ENSG00000152439	ENST00000282292	T	0.10477	2.87	1.03	-0.784	0.10954	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09642	0.0237	L	0.58510	1.815	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.0	T	0.38993	-0.9635	9	0.23302	T	0.38	.	5.3128	0.15839	0.4788:0.0:0.5212:0.0	.	426;427	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	N	427	ENSP00000282292:S427N	ENSP00000282292:S427N	S	+	2	0	ZNF773	62710555	0.000000	0.05858	0.097000	0.21041	0.949000	0.60115	-2.597000	0.00894	-0.237000	0.09739	0.305000	0.20034	AGC		0.413	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		91	337	0	0	0	1	0	91	337				
NRXN2	9379	broad.mit.edu	37	11	64374726	64374726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64374726G>A	ENST00000377551.1	-	22	5292	c.5081C>T	c.(5080-5082)gCt>gTt	p.A1694V	NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A1694V			Q9P2S2	NRX2A_HUMAN	neurexin 2	1694					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGGGGGCAGCCGGGGCCTT	0.612																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(5080-5082)gCt>gTt		neurexin 2							39.0	44.0	42.0					11																	64374726		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64374726G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.5081C>T	11.37:g.64374726G>A	ENSP00000366774:p.Ala1694Val					NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V|NRXN2_ENST00000377551.1_Missense_Mutation_p.A1694V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V	p.A1694V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			23	5542	-			1694					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.5081C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	5.066	0.197830	0.09652	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.62498	0.52;0.02;0.07;0.02;0.12	4.46	3.53	0.40419	.	0.516541	0.15138	U	0.278438	T	0.47655	0.1457	N	0.14661	0.345	0.09310	N	1	P;B;B;B	0.35139	0.486;0.014;0.021;0.263	B;B;B;B	0.40565	0.333;0.017;0.014;0.071	T	0.44528	-0.9322	10	0.56958	D	0.05	.	9.4359	0.38639	0.1061:0.0:0.8939:0.0	.	1624;1694;1440;648	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	V	648;1694;1624;1694;1624;1687	ENSP00000301894:A648V;ENSP00000366774:A1694V;ENSP00000366782:A1624V;ENSP00000265459:A1694V;ENSP00000386416:A1687V	ENSP00000265459:A1694V	A	-	2	0	NRXN2	64131302	1.000000	0.71417	0.067000	0.19924	0.111000	0.19643	5.981000	0.70524	2.033000	0.60031	0.313000	0.20887	GCT		0.612	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		33	182	0	0	0	1	0	33	182				
SLC27A6	28965	broad.mit.edu	37	5	128326153	128326153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128326153C>A	ENST00000262462.4	+	4	1975	c.965C>A	c.(964-966)tCt>tAt	p.S322Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.S322Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.S322Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	322					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCAAACAATCTAAGGTAGGC	0.323																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(964-966)tCt>tAt		solute carrier family 27 (fatty acid transporter), member 6							79.0	75.0	77.0					5																	128326153		2202	4299	6501	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128326153C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.965C>A	5.37:g.128326153C>A	ENSP00000262462:p.Ser322Tyr					SLC27A6_ENST00000506176.1_Missense_Mutation_p.S322Y|SLC27A6_ENST00000395266.1_Missense_Mutation_p.S322Y	p.S322Y			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	4	1975	+		all_cancers(142;0.0483)|Prostate(80;0.055)	322					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.965C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984311	0.74474	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.155327	0.64402	D	0.000016	T	0.42877	0.1222	L	0.29908	0.895	0.40018	D	0.975374	P	0.35226	0.491	P	0.45558	0.485	T	0.19484	-1.0304	9	.	.	.	-4.9328	18.732	0.91738	0.0:1.0:0.0:0.0	.	322	Q9Y2P4	S27A6_HUMAN	Y	141;322;322;322	ENSP00000421759:S141Y;ENSP00000262462:S322Y;ENSP00000378684:S322Y;ENSP00000421024:S322Y	.	S	+	2	0	SLC27A6	128354052	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.230000	0.78097	2.835000	0.97688	0.650000	0.86243	TCT		0.323	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		11	197	1	0	1.58986e-06	1	1.64048e-06	11	197				
TRPM6	140803	broad.mit.edu	37	9	77377222	77377222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377222C>T	ENST00000360774.1	-	26	4602	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1455					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGAAAATGCCCAGTTTACAT	0.473																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4363-4365)tgG>tgA		transient receptor potential cation channel, subfamily M, member 6							110.0	110.0	110.0					9																	77377222		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377222C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4365G>A	9.37:g.77377222C>T	ENSP00000354006:p.Trp1455*					TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.W1455*	p.W1455*			Q9BX84	TRPM6_HUMAN			26	4602	-			1455					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.4365G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	43	9.921600	0.99295	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	.	.	.	5.81	5.81	0.92471	.	1.045860	0.07371	N	0.885724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0621	0.97678	0.0:1.0:0.0:0.0	.	.	.	.	X	1455;1455;1450;1450;1455	.	ENSP00000354006:W1455X	W	-	3	0	TRPM6	76567042	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.331000	0.65905	2.750000	0.94351	0.655000	0.94253	TGG		0.473	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		76	426	0	0	0	1	0	76	426				
BCL6B	255877	broad.mit.edu	37	17	6927518	6927518	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6927518C>T	ENST00000293805.5	+	3	388	c.296C>T	c.(295-297)tCg>tTg	p.S99L	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						ATGTACACTTCGCGCCTGCGC	0.642																																						ENST00000293805.5																			0				skin(1)	1						c.(295-297)tCg>tTg		B-cell CLL/lymphoma 6, member B							56.0	64.0	61.0					17																	6927518		2018	4173	6191	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6927518C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.296C>T	17.37:g.6927518C>T	ENSP00000293805:p.Ser99Leu					BCL6B_ENST00000572216.1_Intron	p.S99L	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			3	388	+			99			BTB.		Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.296C>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528841	0.96446	.	.	ENSG00000161940	ENST00000293805	T	0.71461	-0.57	5.18	5.18	0.71444	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	H	0.95504	3.68	0.48830	D	0.999714	D	0.89917	1.0	D	0.97110	1.0	D	0.91724	0.5391	10	0.87932	D	0	.	16.2254	0.82286	0.0:1.0:0.0:0.0	.	99	Q8N143	BCL6B_HUMAN	L	99	ENSP00000293805:S99L	ENSP00000293805:S99L	S	+	2	0	BCL6B	6868242	1.000000	0.71417	0.932000	0.37286	0.913000	0.54294	7.174000	0.77620	2.691000	0.91804	0.563000	0.77884	TCG		0.642	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		89	844	0	0	0	1	0	89	844				
ADRA2C	152	broad.mit.edu	37	4	3768908	3768908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768908G>A	ENST00000330055.5	+	1	784	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	192					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGCTCTACCGCCAGCCCGAC	0.667																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(574-576)cGc>cAc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						17.0	19.0	18.0					4																	3768908		2187	4292	6479	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768908G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.575G>A	4.37:g.3768908G>A	ENSP00000386069:p.Arg192His					ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	p.R192H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	784	+			192					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.575G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722940	0.48728	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37915	1.17;1.17	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31071	0.0785	L	0.53617	1.68	0.50171	D	0.999851	P;B	0.42584	0.784;0.344	B;B	0.34452	0.183;0.07	T	0.30592	-0.9973	9	0.45353	T	0.12	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	192;192	D6RGL0;P18825	.;ADA2C_HUMAN	H	192	ENSP00000426268:R192H;ENSP00000386069:R192H	ENSP00000386069:R192H	R	+	2	0	ADRA2C	3738706	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.140000	0.58031	1.706000	0.51276	0.561000	0.74099	CGC		0.667	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		28	105	0	0	0	1	0	28	105				
CD300A	11314	broad.mit.edu	37	17	72477915	72477915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72477915G>A	ENST00000360141.3	+	6	1005	c.717G>A	c.(715-717)tgG>tgA	p.W239*	CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*|CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	239					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCTGATGTGGCCTCTGCAGG	0.637																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(715-717)tgG>tgA		CD300a molecule							55.0	43.0	47.0					17																	72477915		2203	4300	6503	SO:0001587	stop_gained	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72477915G>A	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.717G>A	17.37:g.72477915G>A	ENSP00000353259:p.Trp239*					CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*|CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*	p.W239*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN			6	1005	+			239					A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Nonsense_Mutation	SNP	ENST00000360141.3	37	c.717G>A	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082356	0.36758	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000310828	.	.	.	4.11	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1405	0.25554	0.0:0.2098:0.6069:0.1833	.	.	.	.	X	43;239;126	.	ENSP00000308188:W126X	W	+	3	0	CD300A	69989510	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.979000	0.29500	0.627000	0.30340	0.561000	0.74099	TGG		0.637	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		15	86	0	0	0	1	0	15	86				
ACACB	32	broad.mit.edu	37	12	109577565	109577565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109577565G>A	ENST00000338432.7	+	2	474	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	ACACB_ENST00000377854.5_Missense_Mutation_p.G119R|ACACB_ENST00000377848.3_Missense_Mutation_p.G119R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	119					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCAAGCCAACGGGACTGGGAC	0.622																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(355-357)Ggg>Agg		acetyl-CoA carboxylase beta	Biotin(DB00121)						118.0	122.0	121.0					12																	109577565		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109577565G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.355G>A	12.37:g.109577565G>A	ENSP00000341044:p.Gly119Arg					ACACB_ENST00000377848.3_Missense_Mutation_p.G119R|ACACB_ENST00000377854.5_Missense_Mutation_p.G119R	p.G119R			O00763	ACACB_HUMAN			2	474	+			119					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.355G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	7.030	0.560373	0.13498	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.51071	2.2;0.72;2.2;2.2	4.33	-1.05	0.10036	.	1.686470	0.02762	N	0.118751	T	0.31734	0.0806	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.06303	-1.0834	10	0.23891	T	0.37	.	3.5659	0.07900	0.4306:0.0:0.3952:0.1742	.	119	O00763	ACACB_HUMAN	R	119;94;119;119	ENSP00000341044:G119R;ENSP00000443494:G94R;ENSP00000367079:G119R;ENSP00000367085:G119R	ENSP00000341044:G119R	G	+	1	0	ACACB	108061948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-0.317000	0.08677	-0.136000	0.14681	GGG		0.622	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		199	912	0	0	0	1	0	199	912				
KIAA0141	9812	broad.mit.edu	37	5	141304986	141304986	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141304986A>G	ENST00000432126.2	+	3	292	c.158A>G	c.(157-159)cAt>cGt	p.H53R	KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	53					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTCCCCATGGCCCAGGC	0.557																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(157-159)cAt>cGt		KIAA0141							104.0	82.0	89.0					5																	141304986		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141304986A>G	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.158A>G	5.37:g.141304986A>G	ENSP00000396225:p.His53Arg					KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	292	+		all_hematologic(541;0.118)	53					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.158A>G	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378680	0.42207	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18338	2.71;2.71;2.22	4.85	-0.695	0.11291	.	0.672812	0.13581	N	0.377363	T	0.14700	0.0355	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.62326	D	0.03	-0.4811	3.2757	0.06897	0.5377:0.0:0.2902:0.1721	.	53	Q14154	DELE_HUMAN	R	53	ENSP00000396225:H53R;ENSP00000194118:H53R;ENSP00000422686:H53R	ENSP00000194118:H53R	H	+	2	0	KIAA0141	141285170	0.001000	0.12720	0.160000	0.22671	0.498000	0.33706	0.678000	0.25277	-0.030000	0.13804	0.374000	0.22700	CAT		0.557	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		59	280	0	0	0	1	0	59	280				
ZBTB9	221504	broad.mit.edu	37	6	33423403	33423403	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33423403T>G	ENST00000395064.2	+	2	794	c.526T>G	c.(526-528)Ttc>Gtc	p.F176V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCTTCGCCTTTCCAGACCCC	0.542																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(526-528)Ttc>Gtc		zinc finger and BTB domain containing 9							90.0	95.0	93.0					6																	33423403		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423403T>G	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.526T>G	6.37:g.33423403T>G	ENSP00000378503:p.Phe176Val						p.F176V	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	794	+			176					A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.526T>G	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	T	6.850	0.526113	0.13066	.	.	ENSG00000213588	ENST00000395064	T	0.05580	3.42	4.88	3.67	0.42095	.	0.657953	0.11979	U	0.510993	T	0.01835	0.0058	L	0.29908	0.895	0.28623	N	0.908056	B	0.23650	0.089	B	0.21546	0.035	T	0.43097	-0.9412	10	0.28530	T	0.3	.	9.0034	0.36097	0.0:0.0911:0.0:0.9089	.	176	Q96C00	ZBTB9_HUMAN	V	176	ENSP00000378503:F176V	ENSP00000378503:F176V	F	+	1	0	ZBTB9	33531381	0.970000	0.33590	1.000000	0.80357	0.920000	0.55202	0.733000	0.26087	2.051000	0.60960	0.460000	0.39030	TTC		0.542	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		16	657	0	0	0	1	0	16	657				
EXOC3L4	91828	broad.mit.edu	37	14	103573842	103573842	+	Missense_Mutation	SNP	G	G	A	rs150993709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103573842G>A	ENST00000380069.3	+	8	1739	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	555					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGTGACCTTCGCCGGTCATCT	0.677																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(1663-1665)Gcc>Acc		exocyst complex component 3-like 4		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	50.0	49.0	49.0		1663	1.4	0.0	14	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	no	missense	EXOC3L4	NM_001077594.1	58	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	555/723	103573842	3,13003	2203	4300	6503	SO:0001583	missense	91828							g.chr14:103573842G>A	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1663G>A	14.37:g.103573842G>A	ENSP00000369409:p.Ala555Thr						p.A555T	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			8	1739	+			555					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.1663G>A	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	4.510	0.094670	0.08681	2.27E-4	2.33E-4	ENSG00000205436	ENST00000380069	T	0.06687	3.27	4.33	1.43	0.22495	.	0.253320	0.32372	N	0.006189	T	0.07683	0.0193	M	0.62723	1.935	0.09310	N	1	B	0.30973	0.302	B	0.26614	0.071	T	0.34054	-0.9844	10	0.23891	T	0.37	-6.0581	6.0282	0.19665	0.1851:0.0:0.6632:0.1517	.	555	Q17RC7	EX3L4_HUMAN	T	555	ENSP00000369409:A555T	ENSP00000369409:A555T	A	+	1	0	EXOC3L4	102643595	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	1.659000	0.37387	-0.107000	0.12088	-1.786000	0.00637	GCC		0.677	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		24	281	0	0	0	1	0	24	281				
ABCA1	19	broad.mit.edu	37	9	107547688	107547688	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107547688T>C	ENST00000374736.3	-	49	7028	c.6634A>G	c.(6634-6636)Aca>Gca	p.T2212A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2212					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGGTCAAGTGTTGTCTGAGAA	0.473																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6634-6636)Aca>Gca		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						109.0	97.0	101.0					9																	107547688		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547688T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6634A>G	9.37:g.107547688T>C	ENSP00000363868:p.Thr2212Ala						p.T2212A	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	7028	-			2212					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6634A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	32	5.109080	0.94292	.	.	ENSG00000165029	ENST00000374736	D	0.89270	-2.49	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.89601	3.045	0.80722	D	1	D	0.56035	0.974	P	0.51701	0.677	D	0.94760	0.7935	10	0.87932	D	0	.	16.806	0.85666	0.0:0.0:0.0:1.0	.	2212	O95477	ABCA1_HUMAN	A	2212	ENSP00000363868:T2212A	ENSP00000363868:T2212A	T	-	1	0	ABCA1	106587509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.529000	0.55759	ACA		0.473	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		37	209	0	0	0	1	0	37	209				
SCGN	10590	broad.mit.edu	37	6	25670258	25670258	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25670258A>T	ENST00000377961.2	+	6	593	c.425A>T	c.(424-426)aAa>aTa	p.K142I	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	142						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCACCACAAAAAGGCCATT	0.453																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(424-426)aAa>aTa		secretagogin, EF-hand calcium binding protein							156.0	161.0	159.0					6																	25670258		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670258A>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.425A>T	6.37:g.25670258A>T	ENSP00000367197:p.Lys142Ile					SCGN_ENST00000334979.6_3'UTR	p.K142I	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			6	593	+			142					A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.425A>T	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.218045	0.39201	.	.	ENSG00000079689	ENST00000377961	T	0.10382	2.88	5.6	1.81	0.25067	EF-hand-like domain (1);	0.407309	0.30859	N	0.008740	T	0.09423	0.0232	M	0.84585	2.705	0.44643	D	0.997626	B	0.23249	0.082	B	0.32022	0.139	T	0.02404	-1.1164	10	0.66056	D	0.02	.	11.0391	0.47820	0.7965:0.0:0.2035:0.0	.	142	O76038	SEGN_HUMAN	I	142	ENSP00000367197:K142I	ENSP00000367197:K142I	K	+	2	0	SCGN	25778237	0.009000	0.17119	0.185000	0.23176	0.961000	0.63080	1.379000	0.34340	-0.163000	0.10946	-1.450000	0.01041	AAA		0.453	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			145	706	0	0	0	1	0	145	706				
MTOR	2475	broad.mit.edu	37	1	11194521	11194521	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11194521G>A	ENST00000361445.4	-	37	5209	c.5133C>T	c.(5131-5133)atC>atT	p.I1711I	MTOR_ENST00000495435.1_5'UTR|MTOR_ENST00000376838.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1711	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.I1711I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGAAGGCATCGATCTGTAACA	0.542																																						ENST00000361445.4																			1	Substitution - coding silent(1)	p.I1711I(1)	large_intestine(1)	breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5131-5133)atC>atT		mechanistic target of rapamycin (serine/threonine kinase)							152.0	111.0	125.0					1																	11194521		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11194521G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5133C>T	1.37:g.11194521G>A						MTOR_ENST00000495435.1_5'UTR	p.I1711I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			37	5209	-			1711			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.5133C>T	CCDS127.1																																																																																				0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		35	273	0	0	0	1	0	35	273				
MYLK2	85366	broad.mit.edu	37	20	30418685	30418685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418685G>T	ENST00000375994.2	+	8	1561	c.1288G>T	c.(1288-1290)Gca>Tca	p.A430S	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGGCCTGGCACGGAGGTA	0.622																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1288-1290)Gca>Tca		myosin light chain kinase 2							116.0	113.0	114.0					20																	30418685		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30418685G>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1288G>T	20.37:g.30418685G>T	ENSP00000365162:p.Ala430Ser					MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S|MYLK2_ENST00000468730.1_3'UTR	p.A430S			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		8	1561	+			430			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1288G>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367341	0.82463	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.72167	-0.63;-0.63	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73210	0.3558	L	0.31065	0.9	0.58432	D	0.999995	P	0.46327	0.876	P	0.58970	0.849	T	0.75235	-0.3389	9	0.49607	T	0.09	.	15.0927	0.72207	0.0:0.0:1.0:0.0	.	430	Q9H1R3	MYLK2_HUMAN	S	430	ENSP00000365162:A430S;ENSP00000365152:A430S	ENSP00000365152:A430S	A	+	1	0	MYLK2	29882346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.490000	0.97952	2.063000	0.61619	0.561000	0.74099	GCA		0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		158	748	1	0	5.21138e-58	1	6.5303e-58	158	748				
IGHV3-23	28442	broad.mit.edu	37	14	106725432	106725432	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106725432G>T	ENST00000390609.2	-	0	198									immunoglobulin heavy variable 3-23																		AGGCTGCACAGGAGAGTCTCA	0.582																																						ENST00000390609.2																			0																				105.0	135.0	126.0					14																	106725432		1939	4146	6085			0							g.chr14:106725432G>T	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725432G>T														0	198	-									RNA	SNP	ENST00000390609.2	37																																																																																						0.582	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		141	1120	1	0	2.78421e-50	1	3.44954e-50	141	1120				
PRNP	5621	broad.mit.edu	37	20	4680520	4680520	+	Silent	SNP	C	C	T	rs375057882		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4680520C>T	ENST00000379440.4	+	2	941	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_ENST00000430350.2_Silent_p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TCACCCAGTACGAGAGGGAAT	0.532																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(652-654)taC>taT		prion protein	Tetracycline(DB00759)	C	,,,,	0,4406		0,0,2203	136.0	117.0	123.0		654,654,654,654,654	3.7	0.9	20		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	218/254,218/254,218/254,218/254,218/254	4680520	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680520C>T	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.654C>T	20.37:g.4680520C>T						PRNP_ENST00000430350.2_Silent_p.Y218Y	p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	941	+			218			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Silent	SNP	ENST00000379440.4	37	c.654C>T	CCDS13080.1																																																																																				0.532	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		42	183	0	0	0	1	0	42	183				
FAT4	79633	broad.mit.edu	37	4	126336699	126336699	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336699T>C	ENST00000394329.3	+	5	6594	c.6581T>C	c.(6580-6582)gTt>gCt	p.V2194A	FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2194	Cadherin 21. {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						TATGGCATTGTTAATGGTAAT	0.418																																						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.(6580-6582)gTt>gCt		FAT atypical cadherin 4							168.0	152.0	158.0					4																	126336699		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336699T>C	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.6581T>C	4.37:g.126336699T>C	ENSP00000377862:p.Val2194Ala					FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	p.V2194A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6594	+			2194			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6581T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	3.713	-0.059170	0.07317	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51574	0.7;0.7	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.260892	0.18847	U	0.129510	T	0.39784	0.1091	L	0.35793	1.09	0.09310	N	1	B;B	0.19935	0.022;0.04	B;B	0.27262	0.026;0.078	T	0.23440	-1.0188	10	0.09843	T	0.71	.	15.8	0.78447	0.0:0.0:0.0:1.0	.	492;2194	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	A	2194;492	ENSP00000377862:V2194A;ENSP00000335169:V492A	ENSP00000335169:V492A	V	+	2	0	FAT4	126556149	0.542000	0.26426	0.005000	0.12908	0.057000	0.15508	4.622000	0.61240	2.135000	0.66039	0.455000	0.32223	GTT		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		125	492	0	0	0	1	0	125	492				
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	77					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGTTGCTCTGCAGGAGCAGG	0.617																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(229-231)Cag>Tag		leucine rich repeat neuronal 2							66.0	63.0	64.0					1																	204588892		2203	4300	6503	SO:0001587	stop_gained	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588892G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.229C>T	1.37:g.204588892G>A	ENSP00000356143:p.Gln77*					LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*	p.Q77*			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2441	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		77					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Nonsense_Mutation	SNP	ENST00000367175.1	37	c.229C>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	40	8.426355	0.98806	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	.	.	.	5.67	5.67	0.87782	.	0.000000	0.40469	N	0.001081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4225	0.94727	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000356143:Q77X	Q	-	1	0	LRRN2	202855515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.866000	0.99616	2.684000	0.91462	0.650000	0.86243	CAG		0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		64	354	0	0	0	1	0	64	354				
VTN	7448	broad.mit.edu	37	17	26696370	26696370	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26696370C>T	ENST00000226218.4	-	4	1227	c.609G>A	c.(607-609)gaG>gaA	p.E203E	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	203					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CGATGGGGCCCTCGATGCCCC	0.587																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(607-609)gaG>gaA		vitronectin	Urokinase(DB00013)						91.0	86.0	87.0					17																	26696370		2203	4300	6503	SO:0001819	synonymous_variant	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696370C>T	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.609G>A	17.37:g.26696370C>T						SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	p.E203E	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	1227	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		203			Hemopexin-like 1.		B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	37	c.609G>A	CCDS11229.1																																																																																				0.587	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		15	465	0	0	0	1	0	15	465				
EFCAB5	374786	broad.mit.edu	37	17	28386587	28386587	+	Nonsense_Mutation	SNP	C	C	T	rs112900293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386587C>T	ENST00000394835.3	+	14	2797	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	869	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTCCAAGTCCGACAGAGGCT	0.418																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(2605-2607)Cga>Tga		EF-hand calcium binding domain 5							115.0	115.0	115.0					17																	28386587		1859	4087	5946	SO:0001587	stop_gained	374786						calcium ion binding	g.chr17:28386587C>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2605C>T	17.37:g.28386587C>T	ENSP00000378312:p.Arg869*					EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000320856.5_Intron|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000541045.1_Intron	p.R869*	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			14	2797	+			869			EF-hand.		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	c.2605C>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	38	6.910587	0.97928	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	.	.	.	5.39	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7418	13.2178	0.59871	0.1606:0.8394:0.0:0.0	.	.	.	.	X	869	.	ENSP00000368012:R869X	R	+	1	2	EFCAB5	25410713	0.808000	0.29022	0.089000	0.20774	0.072000	0.16883	1.723000	0.38053	1.246000	0.43901	-0.538000	0.04264	CGA		0.418	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		87	376	0	0	0	1	0	87	376				
HABP2	3026	broad.mit.edu	37	10	115345621	115345621	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115345621A>C	ENST00000351270.3	+	12	1538	c.1442A>C	c.(1441-1443)cAa>cCa	p.Q481P	HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	481	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.	Cleavage. {ECO:0000250}.			cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AACTCCCGCCAACTCTATGAC	0.512																																						ENST00000351270.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1441-1443)cAa>cCa		hyaluronan binding protein 2							110.0	91.0	98.0					10																	115345621		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115345621A>C		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1442A>C	10.37:g.115345621A>C	ENSP00000277903:p.Gln481Pro					HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	p.Q481P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	12	1538	+		Colorectal(252;0.0233)|Breast(234;0.0672)	481			Peptidase S1.	Cleavage (By similarity).	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.1442A>C	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807505	0.31961	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.88277	-2.36;-2.35	6.03	-4.73	0.03259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.624330	0.02695	N	0.111065	D	0.83064	0.5173	N	0.12746	0.255	0.09310	N	1	P	0.44877	0.845	P	0.44811	0.461	T	0.73575	-0.3939	10	0.45353	T	0.12	.	16.0541	0.80782	0.6114:0.0:0.3886:0.0	.	481	Q14520	HABP2_HUMAN	P	455;481	ENSP00000443283:Q455P;ENSP00000277903:Q481P	ENSP00000277903:Q481P	Q	+	2	0	HABP2	115335611	0.000000	0.05858	0.016000	0.15963	0.202000	0.24057	-1.183000	0.03079	-0.637000	0.05516	-1.000000	0.02509	CAA		0.512	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		67	218	0	0	0	1	0	67	218				
TTN	7273	broad.mit.edu	37	2	179469867	179469867	+	Missense_Mutation	SNP	C	C	T	rs531242797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179469867C>T	ENST00000591111.1	-	230	49338	c.49114G>A	c.(49114-49116)Gca>Aca	p.A16372T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A18013T|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16372	Ig-like 100.				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)			ATCTGAAGTGCATCAGTGGGT	0.478																																						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.(54037-54039)Gca>Aca		titin							135.0	125.0	128.0					2																	179469867		1874	4102	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469867C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49114G>A	2.37:g.179469867C>T	ENSP00000465570:p.Ala16372Thr					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16372T	p.A18013T	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)		280	54261	-			16372			Fibronectin type-III 30.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.54037G>A		.	.	.	.	.	.	.	.	.	.	C	13.40	2.226034	0.39300	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.74	4.86	0.63082	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29945	0.0749	N	0.13003	0.285	0.35599	D	0.807743	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.28459	-1.0043	9	0.87932	D	0	.	15.2041	0.73165	0.0:0.9315:0.0:0.0685	.	8948;9073;9140;16372	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15445;8948;9140;9073;8948	ENSP00000343764:A15445T;ENSP00000434586:A8948T;ENSP00000340554:A9140T;ENSP00000352154:A9073T	ENSP00000340554:A9140T	A	-	1	0	TTN	179178112	0.998000	0.40836	0.956000	0.39512	0.934000	0.57294	2.314000	0.43743	1.400000	0.46741	0.563000	0.77884	GCA		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	334	0	0	0	1	0	53	334				
PRDM2	7799	broad.mit.edu	37	1	14107778	14107778	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14107778A>G	ENST00000235372.7	+	8	4344	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGGCCCTTCAAATGTGAATTT	0.353																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3487-3489)aAa>aGa		PR domain containing 2, with ZNF domain							109.0	112.0	111.0					1																	14107778		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107778A>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3488A>G	1.37:g.14107778A>G	ENSP00000235372:p.Lys1163Arg					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R	p.K1163R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4344	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1163					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3488A>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932550	0.73442	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.60067	1.865	0.58432	D	0.999991	D;D;D	0.89917	0.98;0.999;1.0	D;D;D	0.85130	0.912;0.994;0.997	T	0.51426	-0.8707	10	0.54805	T	0.06	.	15.2744	0.73732	1.0:0.0:0.0:0.0	.	1021;1163;1163	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	R	1163;1163;1163;962;962	ENSP00000235372:K1163R;ENSP00000312352:K1163R;ENSP00000411103:K962R;ENSP00000341621:K962R	ENSP00000235372:K1163R	K	+	2	0	PRDM2	13980365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.288000	0.76882	0.533000	0.62120	AAA		0.353	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		21	571	0	0	0	1	0	21	571				
NT5C1B	93034	broad.mit.edu	37	2	18767552	18767552	+	Missense_Mutation	SNP	C	C	A	rs201205997		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18767552C>A	ENST00000359846.2	-	4	483	c.406G>T	c.(406-408)Gat>Tat	p.D136Y	NT5C1B_ENST00000304081.4_Missense_Mutation_p.D76Y|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D136Y|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D136Y|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	136	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CTAGGCTCATCTATGGATGGA	0.448																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(226-228)Gat>Tat		5'-nucleotidase, cytosolic IB							153.0	140.0	144.0					2																	18767552		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18767552C>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.406G>T	2.37:g.18767552C>A	ENSP00000352904:p.Asp136Tyr					NT5C1B_ENST00000359846.2_Missense_Mutation_p.D136Y|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D136Y|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D136Y	p.D76Y	NM_033253.3	NP_150278.2					3	326	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.226G>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748697	0.30955	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.91180	-2.8	4.47	4.47	0.54385	.	1.133610	0.06481	N	0.732866	D	0.92586	0.7645	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.971;0.999;1.0;1.0	D;D;P;D;P;D;D;D	0.71184	0.959;0.959;0.87;0.959;0.62;0.939;0.937;0.972	D	0.84068	0.0378	10	0.87932	D	0	-0.7314	12.9491	0.58389	0.0:1.0:0.0:0.0	.	119;153;76;119;76;76;136;136	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	Y	136;76;76;136;153	ENSP00000412639:D76Y	ENSP00000305979:D76Y	D	-	1	0	NT5C1B-RDH14;NT5C1B	18631033	0.232000	0.23762	0.034000	0.17996	0.028000	0.11728	3.018000	0.49625	2.777000	0.95525	0.655000	0.94253	GAT		0.448	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			134	372	1	0	9.12202e-81	1	1.16676e-80	134	372				
PDZRN3	23024	broad.mit.edu	37	3	73432936	73432936	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73432936G>A	ENST00000263666.4	-	10	2895	c.2781C>T	c.(2779-2781)agC>agT	p.S927S	PDZRN3_ENST00000462146.2_Silent_p.S584S|PDZRN3_ENST00000479530.1_Silent_p.S644S|PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000466780.1_Silent_p.S584S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	927					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTCCCGTCGCTGCGGATCT	0.667																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2779-2781)agC>agT		PDZ domain containing ring finger 3							37.0	36.0	36.0					3																	73432936		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432936G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2781C>T	3.37:g.73432936G>A						PDZRN3_ENST00000462146.2_Silent_p.S584S|PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000479530.1_Silent_p.S644S|PDZRN3_ENST00000466780.1_Silent_p.S584S	p.S927S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2895	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	927					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2781C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.606|5.606	0.296515|0.296515	0.10622|0.10622	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000416926	.|.	.|.	.|.	5.4|5.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|.	0.58850|.	0.2151|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53809|.	-0.8386|.	4|.	.|0.36615	.|T	.|0.2	.|.	9.4405|9.4405	0.38666|0.38666	0.3016:0.0:0.6984:0.0|0.3016:0.0:0.6984:0.0	.|.	.|.	.|.	.|.	V|X	243|647	.|.	.|ENSP00000392657:R647X	A|R	-|-	2|1	0|2	PDZRN3|PDZRN3	73515626|73515626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	0.602000|0.602000	0.24134|0.24134	0.633000|0.633000	0.30452|0.30452	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		72	315	0	0	0	1	0	72	315				
TCIRG1	10312	broad.mit.edu	37	11	67816688	67816688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67816688G>T	ENST00000265686.3	+	15	1922	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	605					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCGGCCCCCAGCATCCTCATC	0.642																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1813-1815)aGc>aTc		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							93.0	87.0	89.0					11																	67816688		2199	4294	6493	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67816688G>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1814G>T	11.37:g.67816688G>T	ENSP00000265686:p.Ser605Ile					TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I	p.S605I	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			15	1922	+			605					O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1814G>T	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797545	0.90538	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86164	-2.08;-2.08	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96547	0.9405	10	0.87932	D	0	-40.002	16.0297	0.80570	0.0:0.0:1.0:0.0	.	605	Q13488	VPP3_HUMAN	I	605;389	ENSP00000265686:S605I;ENSP00000434407:S389I	ENSP00000265686:S605I	S	+	2	0	TCIRG1	67573264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.553000	0.98118	2.350000	0.79820	0.555000	0.69702	AGC		0.642	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		131	571	1	0	3.13773e-49	1	3.8801e-49	131	571				
ERCC6	2074	broad.mit.edu	37	10	50678905	50678905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50678905C>T	ENST00000355832.5	-	18	3179	c.3101G>A	c.(3100-3102)tGc>tAc	p.C1034Y	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1034					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGATGGCATTTGGGTGT	0.368								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3100-3102)tGc>tAc	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							121.0	123.0	122.0					10																	50678905		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678905C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3101G>A	10.37:g.50678905C>T	ENSP00000348089:p.Cys1034Tyr					RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y	p.C1034Y	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			18	3179	-			1034					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3101G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.506884	0.00992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82167	-1.58;-1.32	5.95	0.313	0.15842	.	.	.	.	.	T	0.66268	0.2772	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.16802	0.016;0.019	B;B	0.09377	0.002;0.004	T	0.50092	-0.8868	9	0.27785	T	0.31	0.0041	4.9369	0.13944	0.1424:0.4866:0.0:0.371	.	1034;411	Q03468;Q59FF6	ERCC6_HUMAN;.	Y	1034;411;404	ENSP00000348089:C1034Y;ENSP00000445134:C404Y	ENSP00000348089:C1034Y	C	-	2	0	ERCC6	50348911	0.524000	0.26282	0.194000	0.23346	0.516000	0.34256	-0.170000	0.09897	0.126000	0.18424	0.655000	0.94253	TGC		0.368	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		118	610	0	0	0	1	0	118	610				
PSG8	440533	broad.mit.edu	37	19	43359721	43359721	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43359721C>T	ENST00000401467.2	-	1	122	c.51G>A	c.(49-51)ggG>ggA	p.G17G	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	17						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGAGCAGGACCCCCTTCCATT	0.567																																						ENST00000401467.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(49-51)ggG>ggA		pregnancy specific beta-1-glycoprotein 8																																				SO:0001819	synonymous_variant	0					extracellular region		g.chr19:43359721C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.51G>A	19.37:g.43359721C>T						PSG10P_ENST00000597171.1_RNA	p.G17G			Q9UQ74	PSG8_HUMAN			1	122	-		Prostate(69;0.00899)	17					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000401467.2	37	c.51G>A																																																																																					0.567	PSG8-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000464525.1			27	620	0	0	0	1	0	27	620				
FARSB	10056	broad.mit.edu	37	2	223496342	223496342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223496342G>A	ENST00000281828.6	-	8	1030	c.767C>T	c.(766-768)aCg>aTg	p.T256M	FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	256					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.T256M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTCAGTTCCCGTGCATTCAAT	0.299																																						ENST00000281828.6																			1	Substitution - Missense(1)	p.T256M(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(766-768)aCg>aTg		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						66.0	73.0	71.0					2																	223496342		2203	4298	6501	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223496342G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.767C>T	2.37:g.223496342G>A	ENSP00000281828:p.Thr256Met					FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	p.T256M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	8	1030	-		Renal(207;0.0183)	256					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.767C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818072	0.71028	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.32515	1.45;1.45	5.35	5.35	0.76521	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.046696	0.85682	D	0.000000	T	0.73140	0.3549	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.85097	0.0955	10	0.87932	D	0	-11.8711	17.3077	0.87199	0.0:0.0:1.0:0.0	.	256;256	A8K666;Q9NSD9	.;SYFB_HUMAN	M	256;157	ENSP00000281828:T256M;ENSP00000442950:T157M	ENSP00000281828:T256M	T	-	2	0	FARSB	223204586	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.814000	0.86154	2.502000	0.84385	0.585000	0.79938	ACG		0.299	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		92	316	0	0	0	1	0	92	316				
P2RY14	9934	broad.mit.edu	37	3	150931995	150931995	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931995A>G	ENST00000309170.3	-	3	422	c.110T>C	c.(109-111)aTc>aCc	p.I37T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	37					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGAGTAGGATTCCTGCAAT	0.443																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(109-111)aTc>aCc		purinergic receptor P2Y, G-protein coupled, 14							181.0	168.0	172.0					3																	150931995		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931995A>G	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.110T>C	3.37:g.150931995A>G	ENSP00000308361:p.Ile37Thr					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T	p.I37T	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	422	-			37					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.110T>C	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274407	0.23307	.	.	ENSG00000174944	ENST00000309170;ENST00000424796;ENST00000494668	T;T;T	0.40476	1.03;1.03;1.03	5.71	4.55	0.56014	.	0.564366	0.16438	N	0.214433	T	0.25419	0.0618	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.21415	-1.0246	10	0.62326	D	0.03	-9.9284	11.4728	0.50280	0.9299:0.0:0.0701:0.0	.	37	Q15391	P2Y14_HUMAN	T	37	ENSP00000308361:I37T;ENSP00000408733:I37T;ENSP00000418065:I37T	ENSP00000308361:I37T	I	-	2	0	P2RY14	152414685	0.090000	0.21635	0.113000	0.21522	0.470000	0.32858	3.794000	0.55492	0.993000	0.38866	0.477000	0.44152	ATC		0.443	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		14	574	0	0	0	1	0	14	574				
STAT5A	6776	broad.mit.edu	37	17	40452779	40452779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40452779C>T	ENST00000345506.4	+	9	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	STAT5A_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C|STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	294					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGCAGATCCGCAGGGCTGA	0.622																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(880-882)Cgc>Tgc		signal transducer and activator of transcription 5A							40.0	33.0	36.0					17																	40452779		2202	4276	6478	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40452779C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.880C>T	17.37:g.40452779C>T	ENSP00000341208:p.Arg294Cys					STAT5A_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C	p.R294C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	9	1522	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	294					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.880C>T	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783579	0.70222	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	T;T;T	0.60548	0.18;0.18;0.18	4.39	3.3	0.37823	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.061993	0.64402	D	0.000003	T	0.70649	0.3248	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71656	0.974;0.964;0.922	T	0.75758	-0.3205	10	0.87932	D	0	-19.3167	14.876	0.70493	0.154:0.846:0.0:0.0	.	264;296;294	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	C	294;264;296;294	ENSP00000341208:R294C;ENSP00000443107:R264C;ENSP00000400320:R294C	ENSP00000341208:R294C	R	+	1	0	STAT5A	37706305	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.775000	0.47702	1.984000	0.57885	0.306000	0.20318	CGC		0.622	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		35	195	0	0	0	1	0	35	195				
CDH23	64072	broad.mit.edu	37	10	73462397	73462397	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73462397G>A	ENST00000224721.6	+	23	2699	c.2694G>A	c.(2692-2694)ctG>ctA	p.L898L	CDH23_ENST00000299366.7_Silent_p.L938L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	893	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCAGAACCTGCCTTTTGTGG	0.562																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2692-2694)ctG>ctA		cadherin-related 23							122.0	127.0	125.0					10																	73462397		1944	4141	6085	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73462397G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2694G>A	10.37:g.73462397G>A						CDH23_ENST00000299366.7_Silent_p.L938L	p.L898L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			23	2699	+			893			Cadherin 9.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2694G>A																																																																																					0.562	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		135	579	0	0	0	1	0	135	579				
ZNF347	84671	broad.mit.edu	37	19	53652554	53652554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53652554C>T	ENST00000334197.7	-	3	150	c.82G>A	c.(82-84)Gct>Act	p.A28T	ZNF347_ENST00000452676.2_Missense_Mutation_p.A28T|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTCCTCTGAGCGGGGTCCAGG	0.507																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(82-84)Gct>Act		zinc finger protein 347							109.0	112.0	111.0					19																	53652554		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53652554C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.82G>A	19.37:g.53652554C>T	ENSP00000334146:p.Ala28Thr					ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.A28T	p.A28T	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	3	508	-			28			KRAB.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.82G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	4.206	0.037002	0.08148	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02236	4.38;4.38	2.38	1.15	0.20763	Krueppel-associated box (4);	.	.	.	.	T	0.02119	0.0066	M	0.63428	1.95	0.09310	N	1	B;P	0.41420	0.366;0.749	B;B	0.27715	0.013;0.082	T	0.45498	-0.9257	9	0.36615	T	0.2	.	4.2304	0.10601	0.2576:0.4897:0.2527:0.0	.	28;28	G5E9N4;Q96SE7	.;ZN347_HUMAN	T	28	ENSP00000334146:A28T;ENSP00000405218:A28T	ENSP00000334146:A28T	A	-	1	0	ZNF347	58344366	0.000000	0.05858	0.115000	0.21578	0.131000	0.20780	-0.229000	0.09098	1.337000	0.45525	0.591000	0.81541	GCT		0.507	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		127	534	0	0	0	1	0	127	534				
DCAF8	50717	broad.mit.edu	37	1	160187443	160187443	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160187443C>A	ENST00000368073.3	-	14	2167	c.1733G>T	c.(1732-1734)aGc>aTc	p.S578I	DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I|DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I|DCAF8_ENST00000608310.1_Missense_Mutation_p.S732I			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTCTGAGGAGCTGGGAGACTC	0.612																																						ENST00000368073.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1732-1734)aGc>aTc		DDB1 and CUL4 associated factor 8							69.0	69.0	69.0					1																	160187443		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160187443C>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1733G>T	1.37:g.160187443C>A	ENSP00000357052:p.Ser578Ile					DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I|DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I	p.S578I			Q5TAQ9	DCAF8_HUMAN			14	2167	-			578					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.1733G>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683596	0.68157	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.32;-0.32	4.91	4.91	0.64330	.	0.000000	0.64402	U	0.000001	T	0.81866	0.4913	M	0.79475	2.455	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.78314	0.991;0.944	D	0.84195	0.0447	10	0.87932	D	0	-11.435	17.0487	0.86511	0.0:1.0:0.0:0.0	.	732;578	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	I	578;578;578;732;559;732	ENSP00000357052:S578I;ENSP00000318227:S578I;ENSP00000357053:S578I;ENSP00000451989:S732I;ENSP00000451235:S732I	ENSP00000318227:S578I	S	-	2	0	RP11-574F21.3;DCAF8	158454067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.712000	0.74681	2.549000	0.85964	0.655000	0.94253	AGC		0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		78	271	1	0	1.71382e-40	1	2.07847e-40	78	271				
C1QTNF6	114904	broad.mit.edu	37	22	37578258	37578258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578258G>A	ENST00000337843.2	-	3	882	c.807C>T	c.(805-807)agC>agT	p.S269S	C1QTNF6_ENST00000397110.2_Silent_p.S269S|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Silent_p.S145S|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	250					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.S269S(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAGGTGGCCGCTGAAGGTGA	0.657																																						ENST00000337843.2																			1	Substitution - coding silent(1)	p.S269S(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(805-807)agC>agT		C1q and tumor necrosis factor related protein 6							65.0	60.0	62.0					22																	37578258		2203	4300	6503	SO:0001819	synonymous_variant	114904					collagen		g.chr22:37578258G>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.807C>T	22.37:g.37578258G>A						C1QTNF6_ENST00000255836.6_Silent_p.S145S|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Silent_p.S269S|C1QTNF6_ENST00000470655.1_5'UTR	p.S269S	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN			3	882	-			250					Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	37	c.807C>T	CCDS13943.1																																																																																				0.657	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		44	162	0	0	0	1	0	44	162				
SPOCD1	90853	broad.mit.edu	37	1	32280525	32280525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32280525C>T	ENST00000360482.2	-	2	539	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	137					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGACCTGCTACAAAGTTT	0.607																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(409-411)aGc>aAc		SPOC domain containing 1							68.0	77.0	74.0					1																	32280525		2203	4299	6502	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32280525C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.410G>A	1.37:g.32280525C>T	ENSP00000353670:p.Ser137Asn					SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N	p.S137N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	539	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	137					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.410G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191639	0.38707	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.45668	1.19;0.89;1.19	3.57	1.71	0.24356	.	.	.	.	.	T	0.21307	0.0513	N	0.08118	0	0.09310	N	1	P;P	0.40731	0.728;0.608	B;B	0.39217	0.294;0.154	T	0.07693	-1.0759	9	0.48119	T	0.1	-0.0017	5.8672	0.18781	0.0:0.7583:0.0:0.2417	.	137;137	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	N	137	ENSP00000353670:S137N;ENSP00000362752:S137N;ENSP00000435851:S137N	ENSP00000353670:S137N	S	-	2	0	SPOCD1	32053112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.869000	0.04232	0.515000	0.28320	-0.137000	0.14449	AGC		0.607	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		85	559	0	0	0	1	0	85	559				
JPH3	57338	broad.mit.edu	37	16	87678325	87678325	+	Missense_Mutation	SNP	G	G	A	rs371703523		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678325G>A	ENST00000284262.2	+	2	1086	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	282					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGACATCGACGCCACCACCAC	0.667																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(844-846)Gcc>Acc		junctophilin 3		G	THR/ALA	1,4395	2.1+/-5.4	0,1,2197	85.0	79.0	81.0		844	4.9	1.0	16		81	0,8600		0,0,4300	no	missense	JPH3	NM_020655.2	58	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	282/749	87678325	1,12995	2198	4300	6498	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678325G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.844G>A	16.37:g.87678325G>A	ENSP00000284262:p.Ala282Thr						p.A282T	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1086	+			282					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.844G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223433	0.95139	2.27E-4	0.0	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51071	0.72	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.64622	-0.6364	10	0.26408	T	0.33	.	17.1059	0.86663	0.0:0.0:1.0:0.0	.	282	Q8WXH2	JPH3_HUMAN	T	145;282	ENSP00000284262:A282T	ENSP00000284262:A282T	A	+	1	0	JPH3	86235826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.580000	0.98207	2.286000	0.76751	0.561000	0.74099	GCC		0.667	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			143	357	0	0	0	1	0	143	357				
ALDH1L1	10840	broad.mit.edu	37	3	125872144	125872144	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125872144C>T	ENST00000393434.2	-	7	1208				ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.C159Y|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000452905.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGTCAGGGACAAATCAGGGT	0.572																																						ENST00000455064.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(475-477)tGt>tAt		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)																																			SO:0001627	intron_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125872144C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.858+142G>A	3.37:g.125872144C>T						ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000393434.2_Intron|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Intron	p.C159Y			O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	6	899	-			0			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.476G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	9.696	1.153083	0.21371	.	.	ENSG00000144908	ENST00000455064	T	0.55052	0.54	2.5	0.498	0.16908	.	.	.	.	.	T	0.44498	0.1296	.	.	.	0.09310	N	1	P;B	0.44734	0.842;0.418	B;B	0.41571	0.36;0.032	T	0.33599	-0.9862	8	0.87932	D	0	.	8.1559	0.31169	0.0:0.5067:0.4933:0.0	.	159;239	B4DGC8;Q9UFA9	.;.	Y	159	ENSP00000414126:C159Y	ENSP00000414126:C159Y	C	-	2	0	ALDH1L1	127354834	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.839000	0.27586	0.105000	0.17753	-0.499000	0.04595	TGT		0.572	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		8	38	0	0	0	1	0	8	38				
CSAG4	100130935	broad.mit.edu	37	X	151896227	151896227	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151896227C>A	ENST00000361201.4	-	0	503					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						GTCGGAGTGGCTGGATAGTGT	0.522																																						ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																														0							g.chrX:151896227C>A	BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896227C>A								NR_073432.1						0	503	-									RNA	SNP	ENST00000361201.4	37																																																																																						0.522	CSAG4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058758.2			8	262	1	0	5.18039e-06	1	5.32547e-06	8	262				
SUFU	51684	broad.mit.edu	37	10	104352378	104352378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104352378G>T	ENST00000369902.3	+	4	660	c.494G>T	c.(493-495)aGc>aTc	p.S165I	SUFU_ENST00000369899.2_Missense_Mutation_p.S165I|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000423559.2_Missense_Mutation_p.S165I|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	165					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCCTGGCACAGCCCTTTGGAT	0.542			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(493-495)aGc>aTc		suppressor of fused homolog (Drosophila)							130.0	118.0	122.0					10																	104352378		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104352378G>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.494G>T	10.37:g.104352378G>T	ENSP00000358918:p.Ser165Ile					SUFU_ENST00000369899.2_Missense_Mutation_p.S165I|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.S165I	p.S165I	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	4	660	+		Colorectal(252;0.207)	165					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.494G>T	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727188	0.89390	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.82711	-1.64;-1.64;-1.64	5.35	5.35	0.76521	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	L	0.52573	1.65	0.80722	D	1	D;D;D	0.60575	0.985;0.982;0.988	P;P;P	0.49047	0.599;0.464;0.533	D	0.84571	0.0655	10	0.45353	T	0.12	-21.1564	19.0711	0.93136	0.0:0.0:1.0:0.0	.	165;165;165	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	I	165	ENSP00000358918:S165I;ENSP00000358915:S165I;ENSP00000411597:S165I	ENSP00000358915:S165I	S	+	2	0	SUFU	104342368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.506000	0.84524	0.561000	0.74099	AGC		0.542	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		122	481	1	0	3.75716e-53	1	4.6801e-53	122	481				
CABIN1	23523	broad.mit.edu	37	22	24561582	24561582	+	Silent	SNP	C	C	T	rs201868169	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24561582C>T	ENST00000398319.2	+	31	5380	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	CABIN1_ENST00000405822.2_Silent_p.S1586S|CABIN1_ENST00000263119.5_Silent_p.S1665S|CABIN1_ENST00000337989.7_Silent_p.S90S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1665					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACACGCTGAGCGAGCTCGCAG	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		23131	0.0		0.0	False		,,,				2504	0.0					ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4993-4995)agC>agT		calcineurin binding protein 1		C	,,	2,4402	4.2+/-10.8	0,2,2200	102.0	65.0	77.0		4995,4845,4995	-2.5	1.0	22		77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	,,	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	,,	1665/2221,1615/2171,1665/2221	24561582	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24561582C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4995C>T	22.37:g.24561582C>T						CABIN1_ENST00000263119.5_Silent_p.S1665S|CABIN1_ENST00000405822.2_Silent_p.S1586S|CABIN1_ENST00000337989.7_Silent_p.S90S	p.S1665S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			31	5380	+			1665					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.4995C>T	CCDS13823.1																																																																																				0.617	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		23	79	0	0	0	1	0	23	79				
LILRA4	23547	broad.mit.edu	37	19	54849305	54849305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54849305G>A	ENST00000291759.4	-	4	613	c.557C>T	c.(556-558)aCc>aTc	p.T186I	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	186	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTGCTGAAGGTCAGGGGGCC	0.557																																						ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(556-558)aCc>aTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							89.0	76.0	80.0					19																	54849305		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54849305G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.557C>T	19.37:g.54849305G>A	ENSP00000291759:p.Thr186Ile						p.T186I	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	4	613	-	Ovarian(34;0.19)		186			Ig-like C2-type 2.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.557C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	9.285	1.049228	0.19827	.	.	ENSG00000239961	ENST00000291759	T	0.03831	3.79	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.845757	0.10283	N	0.693289	T	0.06690	0.0171	M	0.83012	2.62	0.09310	N	1	B	0.29571	0.249	B	0.30572	0.117	T	0.21245	-1.0251	10	0.62326	D	0.03	.	2.6998	0.05145	0.2127:0.4668:0.186:0.1345	.	186	P59901	LIRA4_HUMAN	I	186	ENSP00000291759:T186I	ENSP00000291759:T186I	T	-	2	0	LILRA4	59541117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.254000	0.02874	-1.571000	0.01663	-0.244000	0.11960	ACC		0.557	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		33	196	0	0	0	1	0	33	196				
MSH6	2956	broad.mit.edu	37	2	48033396	48033396	+	Nonsense_Mutation	SNP	G	G	T	rs35717727|rs193922343|rs267608115	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48033396G>T	ENST00000234420.5	+	8	3852	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1234			E -> Q (in dbSNP:rs35717727).		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTGTTAAAGAACTTGCTGA	0.343			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3700-3702)Gaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							94.0	89.0	91.0					2																	48033396		2203	4300	6503	SO:0001587	stop_gained	2956	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	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48033396G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3700G>T	2.37:g.48033396G>T	ENSP00000234420:p.Glu1234*					FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*	p.E1234*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	3852	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1234		E -> Q (in dbSNP:rs35717727).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	c.3700G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	47	13.267563	0.99731	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.5	5.5	0.81552	.	0.091222	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-22.6663	19.5916	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	1234;200;1104;932	.	ENSP00000234420:E1234X	E	+	1	0	MSH6	47886900	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.376000	0.97181	2.861000	0.98227	0.655000	0.94253	GAA		0.343	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		53	221	1	0	2.72333e-11	1	2.9033e-11	53	221				
SEZ6L2	26470	broad.mit.edu	37	16	29888137	29888137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29888137C>T	ENST00000308713.5	-	12	2571	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	682	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGAATGTCGGAGCCTAGC	0.701																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2044-2046)Gac>Aac		seizure related 6 homolog (mouse)-like 2							20.0	20.0	20.0					16																	29888137		2194	4299	6493	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29888137C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2044G>A	16.37:g.29888137C>T	ENSP00000312550:p.Asp682Asn					SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N	p.D682N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			12	2571	-			682			Sushi 3.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2044G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234224	0.79688	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.57	4.62	0.57501	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000016	T	0.68302	0.2986	L	0.29908	0.895	0.80722	D	1	B;B;B;D;D;P	0.89917	0.027;0.101;0.385;1.0;1.0;0.487	B;B;B;D;D;B	0.91635	0.008;0.025;0.07;0.999;0.998;0.062	T	0.68804	-0.5312	10	0.44086	T	0.13	.	13.6591	0.62357	0.0:0.9238:0.0:0.0762	.	638;682;568;612;682;612	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	N	612;682;568;638	ENSP00000310206:D612N;ENSP00000312550:D682N;ENSP00000319215:D568N;ENSP00000439412:D638N	ENSP00000312550:D682N	D	-	1	0	SEZ6L2	29795638	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.658000	0.61497	1.350000	0.45770	0.655000	0.94253	GAC		0.701	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		14	79	0	0	0	1	0	14	79				
ARFGAP1	55738	broad.mit.edu	37	20	61907992	61907992	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61907992T>G	ENST00000370283.4	+	4	471	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.F111V	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	111	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CGCGGCCCTCTTTAGGGATAA	0.562																																						ENST00000370275.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(331-333)Ttt>Gtt		ADP-ribosylation factor GTPase activating protein 1							50.0	46.0	48.0					20																	61907992		2203	4300	6503	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907992T>G	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.331T>G	20.37:g.61907992T>G	ENSP00000359306:p.Phe111Val					ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.F111V	p.F111V			Q8N6T3	ARFG1_HUMAN			4	423	+	all_cancers(38;1.59e-09)		111			Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.331T>G	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849298	0.71603	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T;T;T;T	0.54071	0.85;0.59;0.68;0.85;0.85;0.7;0.85;0.85;0.85	4.76	4.76	0.60689	.	0.052580	0.85682	D	0.000000	T	0.65995	0.2745	L	0.52573	1.65	0.80722	D	1	P;D;P;P	0.63046	0.955;0.992;0.791;0.793	P;D;P;P	0.68483	0.902;0.958;0.68;0.683	T	0.69745	-0.5062	10	0.87932	D	0	0.8551	14.5528	0.68078	0.0:0.0:0.0:1.0	.	58;111;111;111	E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	V	111;37;37;58;111;37;111;111;111	ENSP00000359306:F111V;ENSP00000449800:F37V;ENSP00000447037:F37V;ENSP00000430500:F58V;ENSP00000359298:F111V;ENSP00000429674:F37V;ENSP00000314615:F111V;ENSP00000430929:F111V;ENSP00000449515:F111V	ENSP00000314615:F111V	F	+	1	0	ARFGAP1	61378437	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	7.555000	0.82223	1.900000	0.55004	0.460000	0.39030	TTT		0.562	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		35	169	0	0	0	1	0	35	169				
GTSE1	51512	broad.mit.edu	37	22	46704391	46704391	+	Missense_Mutation	SNP	G	G	T	rs554280575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46704391G>T	ENST00000454366.1	+	4	525	c.313G>T	c.(313-315)Gct>Tct	p.A105S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTACAAAGAAGCTCACTTACT	0.567																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(313-315)Gct>Tct		G-2 and S-phase expressed 1							69.0	78.0	75.0					22																	46704391		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704391G>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.313G>T	22.37:g.46704391G>T	ENSP00000415430:p.Ala105Ser						p.A105S	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	525	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	86					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.313G>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757456	0.89843	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.42900	0.96	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72040	-0.4410	10	0.87932	D	0	-27.4575	19.5244	0.95197	0.0:0.0:1.0:0.0	.	86	Q9NYZ3	GTSE1_HUMAN	S	105;65	ENSP00000415430:A105S	ENSP00000354634:A65S	A	+	1	0	GTSE1	45083055	1.000000	0.71417	0.620000	0.29132	0.827000	0.46813	6.511000	0.73733	2.700000	0.92200	0.655000	0.94253	GCT		0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		123	424	1	0	1.45844e-59	1	1.83211e-59	123	424				
SOBP	55084	broad.mit.edu	37	6	107956367	107956367	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956367G>T	ENST00000317357.5	+	6	2978	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGGTCAAGGAGAATAACTGTG	0.687																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(2317-2319)gaG>gaT		sine oculis binding protein homolog (Drosophila)							33.0	40.0	38.0					6																	107956367		1944	4143	6087	SO:0001583	missense	55084						metal ion binding	g.chr6:107956367G>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2319G>T	6.37:g.107956367G>T	ENSP00000318900:p.Glu773Asp					SOBP_ENST00000494935.1_3'UTR	p.E773D	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2978	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	773						Missense_Mutation	SNP	ENST00000317357.5	37	c.2319G>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136500	0.77662	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.52983	0.64	4.15	4.15	0.48705	.	0.994812	0.08127	N	0.993747	T	0.46560	0.1399	L	0.29908	0.895	0.47698	D	0.99949	D	0.67145	0.996	D	0.76071	0.987	T	0.41395	-0.9511	10	0.87932	D	0	-7.7535	10.1851	0.42993	0.093:0.0:0.907:0.0	.	773	A7XYQ1	SOBP_HUMAN	D	773;168	ENSP00000318900:E773D	ENSP00000230065:E168D	E	+	3	2	SOBP	108063060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.435000	0.44811	1.836000	0.53414	0.462000	0.41574	GAG		0.687	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		14	327	1	0	2.32078e-09	1	2.442e-09	14	327				
C20orf96	140680	broad.mit.edu	37	20	259966	259966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:259966C>T	ENST00000360321.2	-	5	450	c.312G>A	c.(310-312)tcG>tcA	p.S104S	C20orf96_ENST00000400269.3_Silent_p.S46S|C20orf96_ENST00000382369.5_Silent_p.S69S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	104										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCTCCTGAGCGAGGTCTGCG	0.706																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(310-312)tcG>tcA		chromosome 20 open reading frame 96							59.0	46.0	50.0					20																	259966		2203	4300	6503	SO:0001819	synonymous_variant	140680							g.chr20:259966C>T	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.312G>A	20.37:g.259966C>T						C20orf96_ENST00000382369.5_Silent_p.S69S|C20orf96_ENST00000400269.3_Silent_p.S46S	p.S104S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		5	450	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	104					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	37	c.312G>A	CCDS12994.1																																																																																				0.706	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		45	201	0	0	0	1	0	45	201				
SIGMAR1	10280	broad.mit.edu	37	9	34635839	34635839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34635839G>A	ENST00000277010.4	-	4	535	c.462C>T	c.(460-462)caC>caT	p.H154H	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_Silent_p.H65H|SIGMAR1_ENST00000477726.1_Silent_p.H123H	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	CACCAGGCCCGTGTACTACCG	0.647																																						ENST00000378892.1																			0				large_intestine(1)|lung(1)	2						c.(193-195)caC>caT		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						72.0	69.0	70.0					9																	34635839		2203	4300	6503	SO:0001819	synonymous_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635839G>A	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.462C>T	9.37:g.34635839G>A						SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.H123H|SIGMAR1_ENST00000277010.4_Silent_p.H154H	p.H65H			Q99720	SGMR1_HUMAN			3	622	-			154					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Silent	SNP	ENST00000277010.4	37	c.195C>T	CCDS6562.1																																																																																				0.647	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		41	232	0	0	0	1	0	41	232				
CACNA1E	777	broad.mit.edu	37	1	181732641	181732641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181732641C>A	ENST00000367573.2	+	34	4789	c.4789C>A	c.(4789-4791)Ctg>Atg	p.L1597M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L1578M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1597					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGCATTTTGCTGTGGACCTT	0.498																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4732-4734)Ctg>Atg		calcium channel, voltage-dependent, R type, alpha 1E subunit							61.0	60.0	60.0					1																	181732641		1892	4124	6016	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181732641C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4789C>A	1.37:g.181732641C>A	ENSP00000356545:p.Leu1597Met					CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1597M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M	p.L1578M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			33	4897	+			1597					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4732C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316400	0.81469	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.28	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	D	0.98630	1.0671	10	0.66056	D	0.02	.	13.9604	0.64175	0.0:0.924:0.0:0.076	.	1578;1597;1597	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1597;1578;1548;1529;1204;1578;1597	ENSP00000356542:L1597M;ENSP00000434814:L1578M;ENSP00000350183:L1548M;ENSP00000351101:L1529M;ENSP00000356539:L1204M;ENSP00000353222:L1578M;ENSP00000356545:L1597M	ENSP00000350183:L1548M	L	+	1	2	CACNA1E	179999264	1.000000	0.71417	0.597000	0.28824	0.956000	0.61745	3.673000	0.54591	2.471000	0.83476	0.467000	0.42956	CTG		0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		33	156	1	0	7.16026e-08	1	7.45543e-08	33	156				
TRIM54	57159	broad.mit.edu	37	2	27528685	27528685	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27528685G>T	ENST00000380075.2	+	5	1183	c.843G>T	c.(841-843)caG>caT	p.Q281H	TRIM54_ENST00000296098.4_Splice_Site_p.Q323H	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	281	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATCTCCAGGTGGGCTCTA	0.607																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.e6+1		tripartite motif containing 54							22.0	22.0	22.0					2																	27528685		2202	4300	6502	SO:0001630	splice_region_variant	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27528685G>T	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.843+1G>T	2.37:g.27528685G>T						TRIM54_ENST00000380075.2_Splice_Site_p.Q281_splice	p.Q323_splice	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			6	1239	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		281			COS.		A5D8T7|Q53SY4|Q9BYV3	Splice_Site	SNP	ENST00000380075.2	37	c.969_splice	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694982	0.68386	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.54675	0.94;0.56	4.85	4.85	0.62838	COS domain (1);	0.067207	0.64402	D	0.000009	T	0.45478	0.1344	L	0.34521	1.04	0.80722	D	1	B;B	0.23735	0.017;0.09	B;B	0.26202	0.047;0.067	T	0.47787	-0.9090	10	0.87932	D	0	-20.6728	15.4542	0.75299	0.0:0.0:1.0:0.0	.	281;323	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	H	281;102;323	ENSP00000369415:Q281H;ENSP00000296098:Q323H	ENSP00000296098:Q323H	Q	+	3	2	TRIM54	27382189	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.555000	0.98123	2.235000	0.73313	0.561000	0.74099	CAG		0.607	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841	Missense_Mutation	8	56	1	0	1.76689e-08	1	1.84553e-08	8	56				
NKAPL	222698	broad.mit.edu	37	6	28227565	28227565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227565C>T	ENST00000343684.3	+	1	468	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	139										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGTGGGGGCCGTCTCCAAAG	0.532																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(415-417)cCg>cTg		NFKB activating protein-like							103.0	112.0	109.0					6																	28227565		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227565C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.416C>T	6.37:g.28227565C>T	ENSP00000345716:p.Pro139Leu						p.P139L	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	468	+			139					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.416C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	1.216	-0.628296	0.03610	.	.	ENSG00000189134	ENST00000343684	T	0.12147	2.71	5.1	3.86	0.44501	.	0.213702	0.41396	N	0.000888	T	0.00875	0.0029	N	0.00885	-1.115	0.30982	N	0.722431	B	0.06786	0.001	B	0.01281	0.0	T	0.47749	-0.9093	10	0.06099	T	0.92	-0.8743	7.6288	0.28228	0.0:0.0959:0.0:0.9041	.	139	Q5M9Q1	NKAPL_HUMAN	L	139	ENSP00000345716:P139L	ENSP00000345716:P139L	P	+	2	0	NKAPL	28335544	0.981000	0.34729	0.762000	0.31397	0.696000	0.40369	2.108000	0.41854	1.069000	0.40788	-0.290000	0.09829	CCG		0.532	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			120	673	0	0	0	1	0	120	673				
CR2	1380	broad.mit.edu	37	1	207648341	207648341	+	Silent	SNP	C	C	T	rs139322251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207648341C>T	ENST00000367058.3	+	13	2508	c.2319C>T	c.(2317-2319)agC>agT	p.S773S	CR2_ENST00000458541.2_Silent_p.S746S|CR2_ENST00000367059.3_Silent_p.S773S|CR2_ENST00000367057.3_Silent_p.S832S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	773	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.S832S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATCTTGGAGCGGGCCTTCCC	0.443																																						ENST00000367057.3																			1	Substitution - coding silent(1)	p.S832S(1)	kidney(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2494-2496)agC>agT		complement component (3d/Epstein Barr virus) receptor 2		C	,	1,4405	2.1+/-5.4	0,1,2202	133.0	135.0	134.0		2496,2319	1.3	0.9	1	dbSNP_134	134	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CR2	NM_001006658.2,NM_001877.4	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	832/1093,773/1034	207648341	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648341C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2319C>T	1.37:g.207648341C>T						CR2_ENST00000458541.2_Silent_p.S746S|CR2_ENST00000367058.3_Silent_p.S773S|CR2_ENST00000367059.3_Silent_p.S773S	p.S832S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			14	2685	+			901			Sushi 13.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.2496C>T	CCDS1478.1																																																																																				0.443	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		159	443	0	0	0	1	0	159	443				
DVL3	1857	broad.mit.edu	37	3	183873534	183873534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183873534G>A	ENST00000313143.3	+	1	359	c.111G>A	c.(109-111)ttG>ttA	p.L37L	DVL3_ENST00000431765.1_Silent_p.L37L|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	37	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGGCGTTTTGCAGCGACCCA	0.622																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(109-111)ttG>ttA		dishevelled segment polarity protein 3							74.0	71.0	72.0					3																	183873534		2203	4300	6503	SO:0001819	synonymous_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183873534G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.111G>A	3.37:g.183873534G>A						DVL3_ENST00000431765.1_Silent_p.L37L|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR	p.L37L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		1	359	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		37			DIX.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	37	c.111G>A	CCDS3253.1																																																																																				0.622	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		74	332	0	0	0	1	0	74	332				
SECISBP2L	9728	broad.mit.edu	37	15	49320695	49320695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49320695C>T	ENST00000559471.1	-	5	1112	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	283							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGCTGCAGGCTGGTTGTTGC	0.448																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(847-849)caG>caA		SECIS binding protein 2-like							142.0	120.0	127.0					15																	49320695		2197	4295	6492	SO:0001819	synonymous_variant	9728							g.chr15:49320695C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.849G>A	15.37:g.49320695C>T						SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	p.Q283Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			5	1112	-			283					Q8N767	Silent	SNP	ENST00000559471.1	37	c.849G>A	CCDS53942.1																																																																																				0.448	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		94	402	0	0	0	1	0	94	402				
PLCL1	5334	broad.mit.edu	37	2	199011668	199011668	+	Silent	SNP	G	G	A	rs369185082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:199011668G>A	ENST00000428675.1	+	6	3668	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	PLCL1_ENST00000437704.2_Silent_p.E992E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1090					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAGTAGTGAGGAGAATGGGA	0.483																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3268-3270)gaG>gaA		phospholipase C-like 1	Quinacrine(DB01103)						90.0	68.0	75.0					2																	199011668		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:199011668G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3270G>A	2.37:g.199011668G>A						PLCL1_ENST00000437704.2_Silent_p.E992E	p.E1090E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			6	3668	+			1090					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.3270G>A	CCDS2326.2																																																																																				0.483	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		30	148	0	0	0	1	0	30	148				
LTBP4	8425	broad.mit.edu	37	19	41119858	41119858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41119858G>A	ENST00000308370.7	+	21	2795	c.2795G>A	c.(2794-2796)aGc>aAc	p.S932N	LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	932	Cys-rich.|EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTTGCCAGAGCGGCATCTGT	0.682																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(2794-2796)aGc>aAc		latent transforming growth factor beta binding protein 4							36.0	42.0	40.0					19																	41119858		2066	4197	6263	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41119858G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2795G>A	19.37:g.41119858G>A	ENSP00000311905:p.Ser932Asn					LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N	p.S932N	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		21	2795	+			932			Cys-rich.|EGF-like 11; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.2795G>A		.	.	.	.	.	.	.	.	.	.	G	13.71	2.319803	0.41096	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.95588	-2.93;-2.93;-2.93;-2.93;-3.75	4.61	3.58	0.41010	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.165873	0.29846	N	0.011060	D	0.84880	0.5570	N	0.02225	-0.63	0.80722	D	1	B;P;P;B;P	0.36837	0.0;0.571;0.51;0.259;0.51	B;B;B;B;B	0.38803	0.004;0.213;0.229;0.229;0.282	T	0.81342	-0.0976	10	0.12430	T	0.62	.	8.3198	0.32121	0.1852:0.0:0.8148:0.0	.	30;152;865;932;895	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	N	895;385;932;865;30	ENSP00000204005:S895N;ENSP00000441054:S385N;ENSP00000311905:S932N;ENSP00000380031:S865N;ENSP00000243562:S30N	ENSP00000204005:S895N	S	+	2	0	LTBP4	45811698	0.343000	0.24818	1.000000	0.80357	0.994000	0.84299	3.480000	0.53172	1.175000	0.42826	0.462000	0.41574	AGC		0.682	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		43	165	0	0	0	1	0	43	165				
OTULIN	90268	broad.mit.edu	37	5	14692988	14692988	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14692988C>A	ENST00000284274.4	+	7	968	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		297	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CTTGCCTATGCTGTGCGCCAC	0.507																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(889-891)gCt>gAt		family with sequence similarity 105, member B							151.0	153.0	153.0					5																	14692988		2046	4198	6244	SO:0001583	missense	90268							g.chr5:14692988C>A																												ENST00000284274.4:c.890C>A	5.37:g.14692988C>A	ENSP00000284274:p.Ala297Asp						p.A297D	NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			7	968	+	Lung NSC(4;0.00696)		297					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.890C>A	CCDS43302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.366881|5.366881	0.95900|0.95900	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000284274|ENST00000506417	T|.	0.19669|.	2.13|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.052923|.	0.85682|.	D|.	0.000000|.	T|.	0.76183|.	0.3952|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|.	0.74340|.	-0.3697|.	10|.	0.72032|.	D|.	0.01|.	-15.212|-15.212	18.8787|18.8787	0.92349|0.92349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	297|.	Q96BN8|.	F105B_HUMAN|.	D|X	297|28	ENSP00000284274:A297D|.	ENSP00000284274:A297D|.	A|C	+|+	2|3	0|2	FAM105B|FAM105B	14745988|14745988	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.976000|0.976000	0.68499|0.68499	7.488000|7.488000	0.81441|0.81441	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.507	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			14	465	1	0	9.31168e-06	1	9.55451e-06	14	465				
CRX	1406	broad.mit.edu	37	19	48342621	48342621	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342621G>T	ENST00000221996.7	+	4	503	c.297G>T	c.(295-297)caG>caT	p.Q99H	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.Q99H	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	99					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		agcagcgacagcagcagaaac	0.642																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(295-297)caG>caT		cone-rod homeobox							54.0	63.0	60.0					19																	48342621		2202	4300	6502	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342621G>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.297G>T	19.37:g.48342621G>T	ENSP00000221996:p.Gln99His					CRX_ENST00000539067.1_Missense_Mutation_p.Q99H|TPRX2P_ENST00000535362.1_Intron	p.Q99H	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	503	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	99					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.297G>T	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564636	0.45694	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91124	-2.79;-2.79	3.86	2.8	0.32819	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	N	0.24115	0.695	0.58432	D	0.999991	D	0.61080	0.989	P	0.59115	0.852	D	0.86203	0.1620	10	0.56958	D	0.05	-8.5147	7.3399	0.26632	0.148:0.0:0.852:0.0	.	99	O43186	CRX_HUMAN	H	99	ENSP00000221996:Q99H;ENSP00000445565:Q99H	ENSP00000221996:Q99H	Q	+	3	2	CRX	53034433	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.806000	0.47947	0.739000	0.32628	0.460000	0.39030	CAG		0.642	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		195	750	1	0	2.55618e-100	1	3.28786e-100	195	750				
KRT2	3849	broad.mit.edu	37	12	53043735	53043735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53043735C>T	ENST00000309680.3	-	3	845	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	275	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGCAGCTGTGCGCTTATTGAT	0.433																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(823-825)cGc>cAc		keratin 2							166.0	145.0	152.0					12																	53043735		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53043735C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.824G>A	12.37:g.53043735C>T	ENSP00000310861:p.Arg275His						p.R275H	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	3	845	-			275			Coil 1B.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.824G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112912	0.77210	.	.	ENSG00000172867	ENST00000309680	D	0.89939	-2.59	5.44	3.59	0.41128	Filament (1);	.	.	.	.	D	0.94046	0.8092	M	0.86268	2.805	0.36264	D	0.854743	D	0.89917	1.0	D	0.87578	0.998	D	0.95264	0.8371	9	0.72032	D	0.01	.	10.6753	0.45783	0.1324:0.7989:0.0:0.0687	.	275	P35908	K22E_HUMAN	H	275	ENSP00000310861:R275H	ENSP00000310861:R275H	R	-	2	0	KRT2	51330002	0.990000	0.36364	0.990000	0.47175	0.815000	0.46073	3.796000	0.55507	0.777000	0.33496	0.650000	0.86243	CGC		0.433	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		64	325	0	0	0	1	0	64	325				
FAM149A	25854	broad.mit.edu	37	4	187084635	187084635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187084635G>A	ENST00000356371.5	+	10	1764	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P	FAM149A_ENST00000514153.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P|FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCTCCGCACCGCACAGACTGG	0.557																																						ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1762-1764)ccG>ccA		family with sequence similarity 149, member A							82.0	78.0	80.0					4																	187084635		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187084635G>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1764G>A	4.37:g.187084635G>A						FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P|FAM149A_ENST00000514153.1_Silent_p.P297P|FAM149A_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P	p.P588P			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	10	1764	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	588					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.1764G>A																																																																																					0.557	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		39	302	0	0	0	1	0	39	302				
SDK2	54549	broad.mit.edu	37	17	71418553	71418553	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71418553G>A	ENST00000392650.3	-	15	1918	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SDK2_ENST00000388726.3_Silent_p.L640L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	640	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACACTGGCCAGGAGTACAGTC	0.592																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1918-1920)Ctg>Ttg		sidekick cell adhesion molecule 2							148.0	126.0	133.0					17																	71418553		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71418553G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1918C>T	17.37:g.71418553G>A						SDK2_ENST00000388726.3_Silent_p.L640L	p.L640L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			15	1918	-			640			Fibronectin type-III 1.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.1918C>T	CCDS45769.1																																																																																				0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		101	468	0	0	0	1	0	101	468				
MKI67	4288	broad.mit.edu	37	10	129903573	129903573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129903573G>A	ENST00000368654.3	-	13	6906	c.6531C>T	c.(6529-6531)agC>agT	p.S2177S	MKI67_ENST00000368653.3_Silent_p.S1817S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2177	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGCCTCTTGCTACCAGTTA	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6529-6531)agC>agT		marker of proliferation Ki-67							152.0	144.0	147.0					10																	129903573		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903573G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6531C>T	10.37:g.129903573G>A						MKI67_ENST00000368653.3_Silent_p.S1817S	p.S2177S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6906	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2177			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.6531C>T	CCDS7659.1																																																																																				0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		184	693	0	0	0	1	0	184	693				
MKLN1	4289	broad.mit.edu	37	7	131151154	131151154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131151154G>T	ENST00000352689.6	+	15	1948	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	636					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GGCATTGCAAGTACCTCATAA	0.333																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1906-1908)aaG>aaT		muskelin 1, intracellular mediator containing kelch motifs							91.0	91.0	91.0					7																	131151154		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131151154G>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1908G>T	7.37:g.131151154G>T	ENSP00000323527:p.Lys636Asn					MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N	p.K636N	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			15	1948	+	Melanoma(18;0.162)		636					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.1908G>T	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068109	0.55539	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.49139	1.79;0.79	5.8	3.81	0.43845	.	0.045341	0.85682	D	0.000000	T	0.52869	0.1761	M	0.71036	2.16	0.58432	D	0.999998	B;P;B;P	0.49090	0.399;0.624;0.314;0.919	B;B;B;P	0.51742	0.209;0.206;0.134;0.678	T	0.53027	-0.8496	10	0.59425	D	0.04	-15.6556	5.1238	0.14875	0.4208:0.0:0.5792:0.0	.	636;613;544;126	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	N	544;636;126	ENSP00000398094:K544N;ENSP00000323527:K636N	ENSP00000323527:K636N	K	+	3	2	MKLN1	130801694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.337000	0.59310	0.721000	0.32231	0.650000	0.86243	AAG		0.333	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		58	286	1	0	4.88482e-21	1	5.49248e-21	58	286				
ZNF32	7580	broad.mit.edu	37	10	44141643	44141643	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44141643C>A	ENST00000395797.1	-	0	127				ZNF32_ENST00000374433.2_De_novo_Start_InFrame|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'UTR	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGGGCTGTTCCTGAGCACCTG	0.438																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14								zinc finger protein 32							89.0	71.0	76.0					10																	44141643		692	1591	2283			7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44141643C>A	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043		10.37:g.44141643C>A						ZNF32_ENST00000374433.2_De_novo_Start_InFrame|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'UTR		NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	0	127	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)						Q92951	Translation_Start_Site	SNP	ENST00000395797.1	37		CCDS7206.1																																																																																				0.438	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		15	75	1	0	1.05317e-09	1	1.11087e-09	15	75				
ATP8B1	5205	broad.mit.edu	37	18	55315895	55315895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55315895C>T	ENST00000283684.4	-	27	3580	c.3581G>A	c.(3580-3582)cGg>cAg	p.R1194Q	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R1194Q|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1194					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CACCTGCTGCCGTCGCTGCCA	0.652																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(3580-3582)cGg>cAg		ATPase, aminophospholipid transporter, class I, type 8B, member 1							16.0	17.0	16.0					18																	55315895		2177	4251	6428	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55315895C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3581G>A	18.37:g.55315895C>T	ENSP00000283684:p.Arg1194Gln					RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R1194Q|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA	p.R1194Q	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			28	3700	-		Colorectal(73;0.229)	1194					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.3581G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258346	0.59321	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.39229	1.09;1.09	5.27	5.27	0.74061	.	0.061324	0.64402	D	0.000004	T	0.42337	0.1198	L	0.58302	1.8	0.58432	D	0.999994	B	0.27498	0.18	B	0.23150	0.044	T	0.26849	-1.0091	10	0.33940	T	0.23	.	18.4925	0.90853	0.0:1.0:0.0:0.0	.	1194	O43520	AT8B1_HUMAN	Q	1194	ENSP00000283684:R1194Q;ENSP00000445359:R1194Q	ENSP00000283684:R1194Q	R	-	2	0	ATP8B1	53466893	0.959000	0.32827	0.824000	0.32777	0.497000	0.33675	1.654000	0.37334	2.456000	0.83038	0.561000	0.74099	CGG		0.652	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		17	60	0	0	0	1	0	17	60				
SLC6A5	9152	broad.mit.edu	37	11	20652292	20652292	+	Missense_Mutation	SNP	G	G	A	rs570442943		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20652292G>A	ENST00000525748.1	+	10	1828	c.1555G>A	c.(1555-1557)Gtc>Atc	p.V519I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	519					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V519I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCCGGCTTCGTCATCTTCTC	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23498	0.0		0.0	False		,,,				2504	0.0					ENST00000525748.1																			1	Substitution - Missense(1)	p.V519I(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1555-1557)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						203.0	171.0	182.0					11																	20652292		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20652292G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1555G>A	11.37:g.20652292G>A	ENSP00000434364:p.Val519Ile					SLC6A5_ENST00000528440.1_3'UTR	p.V519I	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			10	1828	+			519					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1555G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930191	0.92389	.	.	ENSG00000165970	ENST00000525748	T	0.75589	-0.95	5.57	5.57	0.84162	.	0.053759	0.85682	D	0.000000	D	0.82912	0.5140	L	0.52266	1.64	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.83931	0.0306	10	0.72032	D	0.01	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	519	Q9Y345	SC6A5_HUMAN	I	519	ENSP00000434364:V519I	ENSP00000434364:V519I	V	+	1	0	SLC6A5	20608868	1.000000	0.71417	0.978000	0.43139	0.653000	0.38743	9.869000	0.99810	2.618000	0.88619	0.655000	0.94253	GTC		0.498	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		108	437	0	0	0	1	0	108	437				
ACHE	43	broad.mit.edu	37	7	100490798	100490798	+	Missense_Mutation	SNP	G	G	T	rs376342806		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100490798G>T	ENST00000412389.1	-	1	1211	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L	ACHE_ENST00000419336.2_Missense_Mutation_p.F352L|ACHE_ENST00000411582.1_Missense_Mutation_p.F352L|ACHE_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000241069.5_Missense_Mutation_p.F352L|ACHE_ENST00000302913.4_Missense_Mutation_p.F352L			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	352					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GCAGGCCGTGGAAGTCTCCCG	0.617																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(1054-1056)ttC>ttA		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						65.0	53.0	57.0					7																	100490798		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490798G>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1056C>A	7.37:g.100490798G>T	ENSP00000394976:p.Phe352Leu					ACHE_ENST00000411582.1_Missense_Mutation_p.F352L|ACHE_ENST00000412389.1_Missense_Mutation_p.F352L|ACHE_ENST00000419336.2_Missense_Mutation_p.F352L|ACHE_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000241069.5_Missense_Mutation_p.F352L	p.F352L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	1194	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		352					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.1056C>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366739	0.24771	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.03	0.554	0.17241	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	L	0.52364	1.645	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.997;0.998	T	0.66810	-0.5829	10	0.41790	T	0.15	.	7.9551	0.30038	0.4145:0.0:0.5855:0.0	.	352;352;352;352	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	L	352	ENSP00000403474:F352L;ENSP00000241069:F352L;ENSP00000414858:F352L;ENSP00000303211:F352L;ENSP00000394976:F352L;ENSP00000397143:F352L;ENSP00000399725:F352L;ENSP00000404865:F352L	ENSP00000241069:F352L	F	-	3	2	ACHE	100328734	1.000000	0.71417	0.800000	0.32199	0.191000	0.23601	2.670000	0.46833	0.166000	0.19597	-0.439000	0.05793	TTC		0.617	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		11	141	1	0	1.58986e-06	1	1.64048e-06	11	141				
GTF3C2	2976	broad.mit.edu	37	2	27551397	27551397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27551397C>T	ENST00000359541.2	-	16	2623	c.2194G>A	c.(2194-2196)Gct>Act	p.A732T	GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	732					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAATATAGCAGCAATGAGC	0.423																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(2194-2196)Gct>Act		general transcription factor IIIC, polypeptide 2, beta 110kDa							128.0	118.0	121.0					2																	27551397		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27551397C>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2194G>A	2.37:g.27551397C>T	ENSP00000352536:p.Ala732Thr					GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T	p.A732T			Q8WUA4	TF3C2_HUMAN			16	2623	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		732					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.2194G>A	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.77|19.77	3.889692|3.889692	0.72524|0.72524	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098	T;T|.	0.73469|.	-0.75;-0.75|.	5.23|5.23	5.23|5.23	0.72850|0.72850	WD40 repeat-like-containing domain (1);|.	0.331763|.	0.32935|.	N|.	0.005470|.	T|T	0.32882|0.32882	0.0844|0.0844	N|N	0.12182|0.12182	0.205|0.205	0.35012|0.35012	D|D	0.757022|0.757022	D|.	0.57257|.	0.979|.	P|.	0.51777|.	0.679|.	T|T	0.40794|0.40794	-0.9544|-0.9544	10|5	0.14252|.	T|.	0.57|.	-11.2681|-11.2681	10.1613|10.1613	0.42853|0.42853	0.0:0.9092:0.0:0.0908|0.0:0.9092:0.0:0.0908	.|.	732|.	Q8WUA4|.	TF3C2_HUMAN|.	T|Y	732|25	ENSP00000352536:A732T;ENSP00000264720:A732T|.	ENSP00000264720:A732T|.	A|C	-|-	1|2	0|0	GTF3C2|GTF3C2	27404901|27404901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.393000|4.393000	0.59665|0.59665	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GCT|TGC		0.423	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			111	309	0	0	0	1	0	111	309				
OR52A5	390054	broad.mit.edu	37	11	5153029	5153029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5153029G>A	ENST00000307388.1	-	1	843	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	282					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACAGGTAAAGATTTGACAAG	0.383																																						ENST00000307388.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(844-846)Ctt>Ttt		olfactory receptor, family 52, subfamily A, member 5							149.0	144.0	146.0					11																	5153029		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153029G>A	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.844C>T	11.37:g.5153029G>A	ENSP00000303469:p.Leu282Phe						p.L282F	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	843	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	282						Missense_Mutation	SNP	ENST00000307388.1	37	c.844C>T	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380793	0.24944	.	.	ENSG00000171944	ENST00000307388	T	0.00174	8.62	4.95	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000674	T	0.00241	0.0007	M	0.64080	1.96	0.35217	D	0.775657	B	0.18610	0.029	B	0.27887	0.084	T	0.59553	-0.7433	10	0.51188	T	0.08	.	12.1449	0.54018	0.0:0.0:0.6904:0.3096	.	282	Q9H2C5	O52A5_HUMAN	F	282	ENSP00000303469:L282F	ENSP00000303469:L282F	L	-	1	0	OR52A5	5109605	0.000000	0.05858	0.772000	0.31596	0.745000	0.42441	-1.550000	0.02180	1.288000	0.44600	0.655000	0.94253	CTT		0.383	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		68	295	0	0	0	1	0	68	295				
C1orf52	148423	broad.mit.edu	37	1	85724406	85724406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85724406C>T	ENST00000471115.1	-	2	285		c.e2-1		C1orf52_ENST00000344356.5_Splice_Site|C1orf52_ENST00000294661.4_Splice_Site	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCTTTGGAGGCTGTTAAGCAA	0.498																																						ENST00000471115.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10						c.e2-1		chromosome 1 open reading frame 52							46.0	40.0	42.0					1																	85724406		2202	4300	6502	SO:0001630	splice_region_variant	148423							g.chr1:85724406C>T	BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.277-1G>A	1.37:g.85724406C>T						C1orf52_ENST00000294661.4_Splice_Site|C1orf52_ENST00000344356.5_Splice_Site		NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN		all cancers(265;0.0105)|Epithelial(280;0.0293)	2	285	-								B3KX89|Q8TDK5|Q8TDK6	Splice_Site	SNP	ENST00000471115.1	37		CCDS703.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122420	0.77436	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.936	0.89012	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf52	85496994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.877000	0.75562	2.532000	0.85374	0.650000	0.86243	.		0.498	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077	Intron	6	102	0	0	0	1	0	6	102				
DKK3	27122	broad.mit.edu	37	11	11986231	11986231	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11986231T>G	ENST00000396505.2	-	8	1071	c.833A>C	c.(832-834)cAc>cCc	p.H278P	DKK3_ENST00000326932.4_Missense_Mutation_p.H278P|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P|DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000527132.1_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	278	DKK-type Cys-2.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CACCAGGCTGTGGCTGGGGAG	0.617																																						ENST00000396505.2																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8						c.(832-834)cAc>cCc		dickkopf WNT signaling pathway inhibitor 3							35.0	38.0	37.0					11																	11986231		2201	4294	6495	SO:0001583	missense	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:11986231T>G	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.833A>C	11.37:g.11986231T>G	ENSP00000379762:p.His278Pro					DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000326932.4_Missense_Mutation_p.H278P|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P	p.H278P	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	8	1071	-			278			DKK-type Cys-2.		A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	c.833A>C	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102267	0.76983	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914	T;T;T;T	0.33865	2.1;2.1;2.12;1.39	5.53	5.53	0.82687	.	0.105186	0.64402	D	0.000003	T	0.44705	0.1306	L	0.55481	1.735	0.48288	D	0.999628	D;P;P	0.53151	0.958;0.93;0.93	P;B;B	0.51229	0.663;0.36;0.36	T	0.40979	-0.9534	10	0.54805	T	0.06	-15.4297	13.0648	0.59028	0.0:0.0:0.0:1.0	.	292;250;278	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	P	278;278;221;292;250;122	ENSP00000379762:H278P;ENSP00000314910:H278P;ENSP00000433112:H292P;ENSP00000398365:H250P	ENSP00000314730:H122P	H	-	2	0	DKK3	11942807	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.468000	0.60162	2.107000	0.64212	0.533000	0.62120	CAC		0.617	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		7	172	0	0	0	1	0	7	172				
ZNF208	7757	broad.mit.edu	37	19	22155498	22155498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22155498C>T	ENST00000397126.4	-	4	2486	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.363																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2338-2340)Gaa>Aaa		zinc finger protein 208							40.0	44.0	43.0					19																	22155498		2072	4229	6301	SO:0001583	missense	7757							g.chr19:22155498C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2338G>A	19.37:g.22155498C>T	ENSP00000380315:p.Glu780Lys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.E780K	NM_007153.3	NP_009084.2					4	2486	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2338G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.909089	0.00508	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16597	2.33	2.28	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	.	.	.	0.09310	N	1	P	0.41498	0.752	P	0.46917	0.531	T	0.13791	-1.0496	8	0.07030	T	0.85	.	3.7366	0.08512	0.0:0.163:0.4103:0.4267	.	680	O43345	ZN208_HUMAN	K	780;680	ENSP00000380315:E780K	ENSP00000380315:E780K	E	-	1	0	ZNF208	21947338	0.000000	0.05858	0.352000	0.25734	0.210000	0.24377	-4.535000	0.00219	-0.123000	0.11745	0.280000	0.19369	GAA		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		23	256	0	0	0	1	0	23	256				
FNDC1	84624	broad.mit.edu	37	6	159687142	159687142	+	Missense_Mutation	SNP	G	G	A	rs374035084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159687142G>A	ENST00000297267.9	+	21	5511	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1771					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)		GATCCCATTCGCTTTCAAACA	0.483																																						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.(5311-5313)Gct>Act		fibronectin type III domain containing 1		G	THR/ALA	0,4032		0,0,2016	122.0	118.0	119.0		5311	0.1	1.0	6		119	1,8365		0,1,4182	no	missense	FNDC1	NM_032532.2	58	0,1,6198	AA,AG,GG		0.012,0.0,0.0081	benign	1771/1895	159687142	1,12397	2016	4183	6199	SO:0001583	missense	84624					extracellular region		g.chr6:159687142G>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.5311G>A	6.37:g.159687142G>A	ENSP00000297267:p.Ala1771Thr					FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	p.A1771T	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)	21	5511	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1771					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5311G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.248751|2.248751	0.39797|0.39797	0.0|0.0	1.2E-4|1.2E-4	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.42131|.	0.98;0.98|.	5.87|5.87	0.12|0.12	0.14691|0.14691	.|.	0.495402|.	0.22578|.	N|.	0.058260|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.02011|0.02011	-0.69|-0.69	0.28659|0.28659	N|N	0.906227|0.906227	B|.	0.29037|.	0.231|.	B|.	0.15484|.	0.013|.	T|T	0.43475|0.43475	-0.9389|-0.9389	9|5	.|.	.|.	.|.	-10.6041|-10.6041	5.6712|5.6712	0.17723|0.17723	0.2619:0.0:0.4937:0.2444|0.2619:0.0:0.4937:0.2444	.|.	1771|.	Q4ZHG4|.	FNDC1_HUMAN|.	T|H	1771;1708|1666	ENSP00000297267:A1771T;ENSP00000342460:A1708T|.	.|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159607132|159607132	0.982000|0.982000	0.34865|0.34865	0.989000|0.989000	0.46669|0.46669	0.952000|0.952000	0.60782|0.60782	0.344000|0.344000	0.19962|0.19962	0.057000|0.057000	0.16193|0.16193	0.650000|0.650000	0.86243|0.86243	GCT|CGC		0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		26	228	0	0	0	1	0	26	228				
PSG9	5678	broad.mit.edu	37	19	43766205	43766205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43766205C>T	ENST00000270077.3	-	3	612	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PSG9_ENST00000244293.7_Silent_p.E172E|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Silent_p.E172E|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	172	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGTCCAGAGTCTCAGGATCAC	0.527																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(514-516)gaG>gaA		pregnancy specific beta-1-glycoprotein 9							241.0	234.0	236.0					19																	43766205		2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43766205C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.516G>A	19.37:g.43766205C>T						PSG9_ENST00000593948.1_Silent_p.E172E|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Silent_p.E172E|PSG9_ENST00000291752.5_Intron	p.E172E			Q00887	PSG9_HUMAN			3	582	-		Prostate(69;0.00682)	172			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.516G>A	CCDS12618.1																																																																																				0.527	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		294	1216	0	0	0	1	0	294	1216				
AFF2	2334	broad.mit.edu	37	X	148049205	148049205	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148049205C>T	ENST00000370460.2	+	15	3729	c.3250C>T	c.(3250-3252)Cac>Tac	p.H1084Y	AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y|AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1084					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCTGAAGCACAAAGCTGA	0.338																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3250-3252)Cac>Tac		AF4/FMR2 family, member 2							167.0	151.0	156.0					X																	148049205		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148049205C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3250C>T	X.37:g.148049205C>T	ENSP00000359489:p.His1084Tyr					AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y|AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y	p.H1084Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			15	3729	+	Acute lymphoblastic leukemia(192;6.56e-05)		1084					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3250C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585519	0.86748	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.978;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.992;0.98;0.991;0.997;0.997;0.998	D	0.85895	0.1431	10	0.72032	D	0.01	.	19.1178	0.93348	0.0:1.0:0.0:0.0	.	725;1049;1049;1045;1074;1084	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1084;1049;1051;725	ENSP00000359489:H1084Y;ENSP00000359486:H1049Y;ENSP00000345459:H1051Y;ENSP00000286437:H725Y	ENSP00000286437:H725Y	H	+	1	0	AFF2	147856899	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.783000	0.85696	2.465000	0.83290	0.594000	0.82650	CAC		0.338	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		67	223	0	0	0	1	0	67	223				
DNASE1L1	1774	broad.mit.edu	37	X	153641878	153641878	+	5'Flank	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153641878T>G	ENST00000393638.1	-	0	0				TAZ_ENST00000475699.1_Missense_Mutation_p.L115W|TAZ_ENST00000299328.5_Missense_Mutation_p.L115W|TAZ_ENST00000351413.4_Missense_Mutation_p.L115W|TAZ_ENST00000350743.4_Missense_Mutation_p.L115W|TAZ_ENST00000369776.4_Missense_Mutation_p.L90W|TAZ_ENST00000369790.4_Missense_Mutation_p.L115W|DNASE1L1_ENST00000369809.1_5'Flank	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTTCAGCTTGGGCAAGTGT	0.592																																						ENST00000299328.5																			0				lung(1)	1						c.(343-345)tTg>tGg		tafazzin							114.0	86.0	96.0					X																	153641878		2203	4300	6503	SO:0001631	upstream_gene_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153641878T>G	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153641878T>G	Exception_encountered					TAZ_ENST00000369790.4_Missense_Mutation_p.L115W|TAZ_ENST00000351413.4_Missense_Mutation_p.L115W|TAZ_ENST00000369776.4_Missense_Mutation_p.L90W|TAZ_ENST00000350743.4_Missense_Mutation_p.L115W	p.L115W	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			4	633	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		115					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.344T>G	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109567	0.77096	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.8	5.8	0.92144	Phospholipid/glycerol acyltransferase (2);	0.077823	0.51477	D	0.000095	D	0.97532	0.9192	L	0.52206	1.635	0.41950	D	0.990653	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;0.844;1.0	D;D;D;D;P;D	0.91635	0.997;0.999;0.995;0.997;0.645;0.999	D	0.97903	1.0304	10	0.51188	T	0.08	-0.0443	12.9201	0.58226	0.0:0.0:0.0:1.0	.	133;90;115;115;115;115	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	W	115;133;115;115;133;115;90;115;115	ENSP00000358805:L115W;ENSP00000411182:L133W;ENSP00000299328:L115W;ENSP00000338891:L115W;ENSP00000397388:L133W;ENSP00000218246:L115W;ENSP00000358791:L90W;ENSP00000398193:L115W;ENSP00000419854:L115W	ENSP00000299328:L115W	L	+	2	0	TAZ	153295072	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	5.795000	0.69074	1.959000	0.56917	0.478000	0.44815	TTG		0.592	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			68	281	0	0	0	1	0	68	281				
ANK2	287	broad.mit.edu	37	4	114161660	114161660	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161660A>G	ENST00000357077.4	+	8	766	c.713A>G	c.(712-714)cAc>cGc	p.H238R	ANK2_ENST00000506722.1_Missense_Mutation_p.H217R|ANK2_ENST00000264366.6_Missense_Mutation_p.H238R|ANK2_ENST00000394537.3_Missense_Mutation_p.H238R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	238					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCTTTGCACATAGCTGCA	0.433																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(712-714)cAc>cGc		ankyrin 2, neuronal							156.0	147.0	150.0					4																	114161660		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114161660A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.713A>G	4.37:g.114161660A>G	ENSP00000349588:p.His238Arg					ANK2_ENST00000506722.1_Missense_Mutation_p.H217R|ANK2_ENST00000394537.3_Missense_Mutation_p.H238R|ANK2_ENST00000264366.6_Missense_Mutation_p.H238R	p.H238R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	8	766	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	238					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.713A>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553975	0.86231	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71103	-0.48;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000055	D	0.86847	0.6031	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.984	D	0.89512	0.3772	10	0.72032	D	0.01	.	15.5709	0.76337	1.0:0.0:0.0:0.0	.	238;238;238;217;217	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	217;217;217;253;238;238;238;217	ENSP00000423799:H217R;ENSP00000421011:H217R;ENSP00000421067:H217R;ENSP00000424722:H253R;ENSP00000378044:H238R;ENSP00000349588:H238R;ENSP00000264366:H238R	ENSP00000264366:H238R	H	+	2	0	ANK2	114381109	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.212000	0.71576	0.528000	0.53228	CAC		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		67	306	0	0	0	1	0	67	306				
TRPM6	140803	broad.mit.edu	37	9	77354718	77354718	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354718A>G	ENST00000360774.1	-	34	5645	c.5408T>C	c.(5407-5409)gTc>gCc	p.V1803A	TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A|TRPM6_ENST00000451710.3_Missense_Mutation_p.V1807A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1803	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAGGACTTGACAATGAAAAC	0.498																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5419-5421)gTc>gCc		transient receptor potential cation channel, subfamily M, member 6							131.0	126.0	128.0					9																	77354718		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354718A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5408T>C	9.37:g.77354718A>G	ENSP00000354006:p.Val1803Ala					TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1803A	p.V1807A			Q9BX84	TRPM6_HUMAN			33	5657	-			1803			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5420T>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584628	0.86748	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35	5.96	5.96	0.96718	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.053822	0.64402	D	0.000001	T	0.14056	0.0340	N	0.17082	0.46	0.50039	D	0.999841	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.996;0.997	D;D;D;D;P;D	0.77557	0.971;0.986;0.99;0.965;0.885;0.941	T	0.09357	-1.0678	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	350;636;754;1803;1798;1798	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	A	1803;1807;758;640;1798;1798;349;1807	ENSP00000354006:V1803A;ENSP00000407341:V1807A;ENSP00000366068:V758A;ENSP00000366067:V640A;ENSP00000396672:V1798A;ENSP00000354962:V1798A;ENSP00000366060:V1807A	ENSP00000354006:V1803A	V	-	2	0	TRPM6	76544538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.288000	0.78691	2.285000	0.76669	0.533000	0.62120	GTC		0.498	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		27	694	0	0	0	1	0	27	694				
B3GNT3	10331	broad.mit.edu	37	19	17919059	17919059	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17919059G>A	ENST00000318683.6	+	2	590	c.443G>A	c.(442-444)gGc>gAc	p.G148D	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	148					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TTCCTGGTGGGCACAGCCTCC	0.672																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(442-444)gGc>gAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							33.0	33.0	33.0					19																	17919059		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17919059G>A	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.443G>A	19.37:g.17919059G>A	ENSP00000321874:p.Gly148Asp					B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	p.G148D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	590	+			148					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.443G>A	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253128	0.80135	.	.	ENSG00000179913	ENST00000318683	D	0.83673	-1.75	3.92	3.92	0.45320	.	0.000000	0.85682	U	0.000000	D	0.93598	0.7956	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94776	0.7949	10	0.87932	D	0	.	11.4409	0.50096	0.0:0.0:1.0:0.0	.	148	Q9Y2A9	B3GN3_HUMAN	D	148	ENSP00000321874:G148D	ENSP00000321874:G148D	G	+	2	0	B3GNT3	17780059	1.000000	0.71417	0.967000	0.41034	0.749000	0.42624	9.080000	0.94040	1.733000	0.51620	0.297000	0.19635	GGC		0.672	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		54	237	0	0	0	1	0	54	237				
SYT11	23208	broad.mit.edu	37	1	155850386	155850386	+	Silent	SNP	G	G	A	rs370047410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155850386G>A	ENST00000368324.4	+	3	1210	c.957G>A	c.(955-957)ccG>ccA	p.P319P	SYT11_ENST00000539162.1_Silent_p.P12P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	319	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GACACTTGCCGAAGATGGATA	0.517																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(955-957)ccG>ccA		synaptotagmin XI		G		0,4406		0,0,2203	187.0	173.0	177.0		957	2.2	1.0	1		177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYT11	NM_152280.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/432	155850386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155850386G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.957G>A	1.37:g.155850386G>A						SYT11_ENST00000539162.1_Silent_p.P12P	p.P319P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		3	1210	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		319			C2 2.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.957G>A	CCDS1122.1																																																																																				0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		31	724	0	0	0	1	0	31	724				
CD93	22918	broad.mit.edu	37	20	23066662	23066662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066662G>A	ENST00000246006.4	-	1	315	c.168C>T	c.(166-168)aaC>aaT	p.N56N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	56	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTTGCCCCCGTTCTGGTTGC	0.687																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(166-168)aaC>aaT		CD93 molecule							38.0	31.0	33.0					20																	23066662		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066662G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.168C>T	20.37:g.23066662G>A							p.N56N	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	315	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		56			C-type lectin.		O00274	Silent	SNP	ENST00000246006.4	37	c.168C>T	CCDS13149.1																																																																																				0.687	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		15	86	0	0	0	1	0	15	86				
CHD4	1108	broad.mit.edu	37	12	6690899	6690899	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6690899G>T	ENST00000357008.2	-	31	4760	c.4597C>A	c.(4597-4599)Cca>Aca	p.P1533T	SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.P1561T|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1533					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTGACCCTGGCTGGGACATC	0.562																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4681-4683)Cca>Aca		chromodomain helicase DNA binding protein 4							194.0	186.0	189.0					12																	6690899		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690899G>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4597C>A	12.37:g.6690899G>T	ENSP00000349508:p.Pro1533Thr					CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|CHD4_ENST00000357008.2_Missense_Mutation_p.P1533T|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558T	p.P1561T			Q14839	CHD4_HUMAN			30	4844	-			1533					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4681C>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664373	0.47572	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89875	-2.58;-2.56;-2.58;-2.56	5.76	5.76	0.90799	.	0.129340	0.52532	D	0.000069	D	0.85392	0.5686	L	0.54323	1.7	0.58432	D	0.999997	B;B;P	0.36535	0.435;0.001;0.557	B;B;B	0.35971	0.116;0.002;0.215	T	0.82180	-0.0585	10	0.15066	T	0.55	-4.4237	14.78	0.69760	0.0:0.0:0.8557:0.1442	.	1561;1533;1526	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	1558;1526;1561;1533;1507	ENSP00000440392:P1558T;ENSP00000440542:P1526T;ENSP00000312419:P1561T;ENSP00000349508:P1533T	ENSP00000312419:P1561T	P	-	1	0	CHD4	6561160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.517000	0.81783	2.726000	0.93360	0.655000	0.94253	CCA		0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		79	419	1	0	1.45978e-39	1	1.7657e-39	79	419				
TSHZ2	128553	broad.mit.edu	37	20	51871966	51871966	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871966C>A	ENST00000371497.5	+	2	2856	c.1969C>A	c.(1969-1971)Ctg>Atg	p.L657M	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	657					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGAGGAGAAGCTGATGAAAGA	0.597																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1969-1971)Ctg>Atg		teashirt zinc finger homeobox 2							53.0	55.0	55.0					20																	51871966		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871966C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1969C>A	20.37:g.51871966C>A	ENSP00000360552:p.Leu657Met					TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M	p.L657M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2856	+			657					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1969C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	8.135	0.783870	0.16189	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37915	1.17;1.17	3.64	3.64	0.41730	.	0.960519	0.08689	N	0.908319	T	0.24470	0.0593	N	0.08118	0	0.23204	N	0.998125	B	0.27732	0.187	B	0.33890	0.172	T	0.18967	-1.0320	10	0.48119	T	0.1	-0.1339	11.1201	0.48284	0.0:1.0:0.0:0.0	.	657	Q9NRE2	TSH2_HUMAN	M	657;654;183	ENSP00000360552:L657M;ENSP00000333114:L654M	ENSP00000333114:L654M	L	+	1	2	TSHZ2	51305373	0.755000	0.28372	0.926000	0.36857	0.890000	0.51754	1.467000	0.35321	2.324000	0.78689	0.643000	0.83706	CTG		0.597	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		55	287	1	0	3.73128e-16	1	4.09274e-16	55	287				
SACS	26278	broad.mit.edu	37	13	23932601	23932601	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23932601G>A	ENST00000382292.3	-	6	750	c.477C>T	c.(475-477)taC>taT	p.Y159Y	SACS_ENST00000382298.3_Silent_p.Y159Y|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	159					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCGCGTTGTTGTACACATAGA	0.453																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(475-477)taC>taT		spastic ataxia of Charlevoix-Saguenay (sacsin)							115.0	115.0	115.0					13																	23932601		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23932601G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.477C>T	13.37:g.23932601G>A						SACS_ENST00000382292.3_Silent_p.Y159Y|SACS_ENST00000402364.1_5'UTR	p.Y159Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	7	1065	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	159					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.477C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	7.069	0.567935	0.13560	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.74	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1814	0.65577	0.0712:0.0:0.9288:0.0	.	.	.	.	X	59	.	.	Q	-	1	0	SACS	22830601	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.463000	0.53050	2.715000	0.92844	0.655000	0.94253	CAA		0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		78	515	0	0	0	1	0	78	515				
VCAN	1462	broad.mit.edu	37	5	82789700	82789700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82789700G>A	ENST00000265077.3	+	5	1263	c.698G>A	c.(697-699)cGt>cAt	p.R233H	VCAN_ENST00000343200.5_Missense_Mutation_p.R233H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000513984.1_Missense_Mutation_p.R233H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	233	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TATGGATTCCGTTCTCCCCAG	0.438																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(697-699)cGt>cAt		versican							212.0	193.0	200.0					5																	82789700		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82789700G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.698G>A	5.37:g.82789700G>A	ENSP00000265077:p.Arg233His					VCAN_ENST00000513984.1_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H|VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000343200.5_Missense_Mutation_p.R233H	p.R233H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	5	1263	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	233			Link 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.698G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405481	0.96051	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.97	5.97	0.96955	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.64402	D	0.000014	T	0.56108	0.1963	H	0.96633	3.855	0.80722	D	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;0.999;0.999;0.999;0.998	T	0.70324	-0.4903	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	233;233;233;233;233	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	233;233;233;185;233;233;233	ENSP00000265077:R233H;ENSP00000340062:R233H;ENSP00000342768:R233H;ENSP00000425959:R185H;ENSP00000426251:R233H;ENSP00000426715:R233H;ENSP00000421362:R233H	ENSP00000265077:R233H	R	+	2	0	VCAN	82825456	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGT		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		121	489	0	0	0	1	0	121	489				
ADAR	103	broad.mit.edu	37	1	154574527	154574527	+	Silent	SNP	G	G	A	rs202096621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154574527G>A	ENST00000368474.4	-	2	790	c.591C>T	c.(589-591)atC>atT	p.I197I	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.I240I|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	197					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I197I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGAGACCGCGATTTTCCACA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19907	0.001		0.0	False		,,,				2504	0.0					ENST00000368474.4																			1	Substitution - coding silent(1)	p.I197I(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(589-591)atC>atT		adenosine deaminase, RNA-specific							108.0	114.0	112.0					1																	154574527		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574527G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.591C>T	1.37:g.154574527G>A						ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.I240I	p.I197I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	790	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		197					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.591C>T	CCDS1071.1																																																																																				0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		201	635	0	0	0	1	0	201	635				
PGBD2	267002	broad.mit.edu	37	1	249212090	249212090	+	Missense_Mutation	SNP	G	G	A	rs372043364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249212090G>A	ENST00000329291.5	+	3	1454	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H|PGBD2_ENST00000355360.4_Missense_Mutation_p.R185H	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	436										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGACCAGTCGTCACTCTGGA	0.552																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(553-555)cGt>cAt		piggyBac transposable element derived 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	74.0	79.0		1307,554	1.5	0.0	1		79	0,8600		0,0,4300	no	missense,missense	PGBD2	NM_170725.2,NM_001017434.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	436/593,185/342	249212090	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr1:249212090G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1307G>A	1.37:g.249212090G>A	ENSP00000331643:p.Arg436His					PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H|PGBD2_ENST00000329291.5_Missense_Mutation_p.R436H	p.R185H	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	824	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	436					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.554G>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451934	0.01080	2.27E-4	0.0	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.20200	2.09;2.09;2.09	3.58	1.47	0.22746	.	0.477093	0.15029	N	0.284560	T	0.18759	0.0450	M	0.64997	1.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.23797	-1.0178	10	0.27785	T	0.31	-5.3232	6.2778	0.20991	0.223:0.0:0.777:0.0	.	433;436	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	185;436;433	ENSP00000355424:R185H;ENSP00000331643:R436H;ENSP00000439950:R433H	ENSP00000331643:R436H	R	+	2	0	PGBD2	247178713	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	0.181000	0.16880	0.217000	0.20800	0.467000	0.42956	CGT		0.552	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			27	231	0	0	0	1	0	27	231				
ZNF704	619279	broad.mit.edu	37	8	81599496	81599496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81599496G>A	ENST00000327835.3	-	4	754	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	175							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCGAAGAGCAGGTTGCTGGCC	0.632											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(523-525)Ctg>Ttg		zinc finger protein 704							54.0	52.0	52.0					8																	81599496		2164	4263	6427	SO:0001819	synonymous_variant	619279					intracellular	zinc ion binding	g.chr8:81599496G>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.523C>T	8.37:g.81599496G>A			OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ZNF704_ENST00000520336.1_5'UTR	p.L175L	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		4	754	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		175					B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	c.523C>T	CCDS34913.1																																																																																				0.632	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		48	420	0	0	0	1	0	48	420				
GOLPH3	64083	broad.mit.edu	37	5	32126345	32126345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126345C>T	ENST00000265070.6	-	4	1185	c.870G>A	c.(868-870)tgG>tgA	p.W290*	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	290					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCACCACCGCCCACAGAACCT	0.498																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(868-870)tgG>tgA		golgi phosphoprotein 3 (coat-protein)							115.0	111.0	112.0					5																	32126345		2203	4300	6503	SO:0001587	stop_gained	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126345C>T	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.870G>A	5.37:g.32126345C>T	ENSP00000265070:p.Trp290*						p.W290*	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1185	-			290					Q9UIW5	Nonsense_Mutation	SNP	ENST00000265070.6	37	c.870G>A	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884130	0.72410	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	290;273	.	ENSP00000265070:W290X	W	-	3	0	GOLPH3	32162102	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	TGG		0.498	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		117	565	0	0	0	1	0	117	565				
INPP5A	3632	broad.mit.edu	37	10	134591331	134591331	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134591331C>T	ENST00000368594.3	+	13	1366				INPP5A_ENST00000368593.3_Silent_p.S378S	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa						inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GGATGTGGAGCGCTGGGTCTG	0.687																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368593.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1132-1134)agC>agT		inositol polyphosphate-5-phosphatase, 40kDa							49.0	40.0	43.0					10																	134591331		2188	4289	6477	SO:0001627	intron_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134591331C>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1089+45C>T	10.37:g.134591331C>T						INPP5A_ENST00000368594.3_Intron	p.S378S			Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	13	1382	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	0					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.1134C>T	CCDS7669.2																																																																																				0.687	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		14	84	0	0	0	1	0	14	84				
DNAH2	146754	broad.mit.edu	37	17	7699832	7699832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7699832G>T	ENST00000572933.1	+	50	9185	c.7725G>T	c.(7723-7725)caG>caT	p.Q2575H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2575	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAAGCTTCAGGACTTTGAGG	0.562																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7723-7725)caG>caT		dynein, axonemal, heavy chain 2							121.0	100.0	107.0					17																	7699832		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7699832G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7725G>T	17.37:g.7699832G>T	ENSP00000458355:p.Gln2575His					DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H	p.Q2575H			Q9P225	DYH2_HUMAN			50	9185	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2575			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7725G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832290	0.50845	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40476	1.03	5.4	4.43	0.53597	.	0.131736	0.52532	D	0.000076	T	0.42268	0.1195	L	0.57536	1.79	0.80722	D	1	B	0.13594	0.008	B	0.25405	0.06	T	0.37709	-0.9694	10	0.51188	T	0.08	.	13.2661	0.60135	0.0773:0.0:0.9227:0.0	.	2575	Q9P225	DYH2_HUMAN	H	2575	ENSP00000373825:Q2575H	ENSP00000353818:Q2575H	Q	+	3	2	DNAH2	7640557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.487000	0.60293	1.508000	0.48769	0.609000	0.83330	CAG		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		61	238	1	0	1.69475e-38	1	2.04315e-38	61	238				
NR4A1	3164	broad.mit.edu	37	12	52450400	52450400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450400C>T	ENST00000243050.1	+	5	1443	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|NR4A1_ENST00000545748.1_Missense_Mutation_p.P431S|NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	377					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGACTCAGGGCCCAGCACTGC	0.627																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1291-1293)Ccc>Tcc		nuclear receptor subfamily 4, group A, member 1							85.0	80.0	82.0					12																	52450400		2203	4300	6503	SO:0001583	missense	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52450400C>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1129C>T	12.37:g.52450400C>T	ENSP00000243050:p.Pro377Ser					NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S|NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S|NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|NR4A1_ENST00000243050.1_Missense_Mutation_p.P377S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S	p.P431S			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	5	2286	+			377			Ligand-binding (Potential).		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1291C>T	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122481	0.94429	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	4.94	4.94	0.65067	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.64170	1.965	0.80722	D	1	D;P	0.89917	1.0;0.709	D;P	0.87578	0.998;0.609	T	0.69514	-0.5125	10	0.87932	D	0	.	17.4611	0.87620	0.0:1.0:0.0:0.0	.	390;377	B4DML7;P22736	.;NR4A1_HUMAN	S	390;431;390;377;377;377	ENSP00000353427:P390S;ENSP00000440864:P431S;ENSP00000449539:P390S;ENSP00000243050:P377S;ENSP00000378302:P377S;ENSP00000378301:P377S	ENSP00000243050:P377S	P	+	1	0	NR4A1	50736667	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.578000	0.67450	2.735000	0.93741	0.655000	0.94253	CCC		0.627	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			71	409	0	0	0	1	0	71	409				
RAD51AP2	729475	broad.mit.edu	37	2	17698488	17698488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698488C>T	ENST00000399080.2	-	1	1218	c.1195G>A	c.(1195-1197)Gtt>Att	p.V399I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	399										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATGTCTAACGTTACAGTCC	0.328																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1195-1197)Gtt>Att		RAD51 associated protein 2							54.0	53.0	53.0					2																	17698488		1805	4076	5881	SO:0001583	missense	729475							g.chr2:17698488C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1195G>A	2.37:g.17698488C>T	ENSP00000382030:p.Val399Ile						p.V399I	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1218	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		399						Missense_Mutation	SNP	ENST00000399080.2	37	c.1195G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.788986	0.02884	.	.	ENSG00000214842	ENST00000399080	T	0.25912	1.77	4.22	0.373	0.16178	.	.	.	.	.	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39354	-0.9618	9	0.05620	T	0.96	.	5.0445	0.14477	0.0:0.3547:0.1593:0.486	.	399	Q09MP3	R51A2_HUMAN	I	399	ENSP00000382030:V399I	ENSP00000382030:V399I	V	-	1	0	RAD51AP2	17561969	0.001000	0.12720	0.001000	0.08648	0.054000	0.15201	0.865000	0.27940	0.245000	0.21373	-0.440000	0.05779	GTT		0.328	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		46	256	0	0	0	1	0	46	256				
YY1	7528	broad.mit.edu	37	14	100705717	100705717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100705717G>T	ENST00000262238.4	+	1	396	c.136G>T	c.(136-138)Gag>Tag	p.E46*	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	46	Asp/Glu-rich (acidic).|Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cgaggaggaggaggaggacga	0.711																																						ENST00000262238.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(136-138)Gag>Tag		YY1 transcription factor							22.0	16.0	18.0					14																	100705717		2172	4266	6438	SO:0001587	stop_gained	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705717G>T	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.136G>T	14.37:g.100705717G>T	ENSP00000262238:p.Glu46*						p.E46*	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	396	+		Melanoma(154;0.152)	46			Asp/Glu-rich (acidic).		Q14935	Nonsense_Mutation	SNP	ENST00000262238.4	37	c.136G>T	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	.	26.9	4.779841	0.90195	.	.	ENSG00000100811	ENST00000262238	.	.	.	1.92	0.98	0.19750	.	0.232106	0.24786	U	0.035613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.0713	0.25179	0.1539:0.0:0.8461:0.0	.	.	.	.	X	46	.	ENSP00000262238:E46X	E	+	1	0	YY1	99775470	1.000000	0.71417	0.136000	0.22124	0.761000	0.43186	2.646000	0.46630	0.152000	0.19188	0.538000	0.68166	GAG		0.711	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		11	59	1	0	7.03913e-09	1	7.37812e-09	11	59				
CCDC57	284001	broad.mit.edu	37	17	80159556	80159556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159556G>A	ENST00000389641.4	-	2	301	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	CCDC57_ENST00000392347.1_Missense_Mutation_p.R89W|CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	89										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ACCTCTGCCCGCCTGGCCTCT	0.642																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(265-267)Cgg>Tgg		coiled-coil domain containing 57							43.0	50.0	48.0					17																	80159556		2155	4251	6406	SO:0001583	missense	284001							g.chr17:80159556G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.265C>T	17.37:g.80159556G>A	ENSP00000374292:p.Arg89Trp					CCDC57_ENST00000389641.4_Missense_Mutation_p.R89W|CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W	p.R89W	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		2	301	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		89					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.265C>T		.	.	.	.	.	.	.	.	.	.	G	16.61	3.172445	0.57584	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.24350	3.03;3.03;1.86	5.48	3.22	0.36961	.	0.236359	0.36167	N	0.002743	T	0.27454	0.0674	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.56612	0.627;0.802	T	0.07233	-1.0783	10	0.87932	D	0	-26.0033	11.2565	0.49056	0.0:0.1293:0.7225:0.1483	.	89;89	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	W	89	ENSP00000374292:R89W;ENSP00000376158:R89W;ENSP00000376154:R89W	ENSP00000374292:R89W	R	-	1	2	CCDC57	77752845	1.000000	0.71417	0.995000	0.50966	0.445000	0.32107	3.666000	0.54540	1.262000	0.44165	0.650000	0.86243	CGG		0.642	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		35	355	0	0	0	1	0	35	355				
PCDHGA3	56112	broad.mit.edu	37	5	140724186	140724186	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724186C>A	ENST00000253812.6	+	1	586	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTGGTGCTGGAGCGGGC	0.542																																						ENST00000253812.6																			0				breast(1)	1						c.(586-588)Ctg>Atg									59.0	62.0	61.0					5																	140724186		2081	4227	6308	SO:0001583	missense	0							g.chr5:140724186C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.586C>A	5.37:g.140724186C>A	ENSP00000253812:p.Leu196Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L196M	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	586	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.586C>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.513160	0.27123	.	.	ENSG00000254245	ENST00000253812	T	0.24723	1.84	5.65	2.92	0.33932	Cadherin (3);Cadherin-like (1);	0.000000	0.27379	U	0.019626	T	0.63094	0.2482	H	0.98314	4.2	0.21950	N	0.999452	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59968	-0.7354	10	0.87932	D	0	.	8.1665	0.31230	0.0:0.6332:0.0:0.3668	.	196;196	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	196	ENSP00000253812:L196M	ENSP00000253812:L196M	L	+	1	2	PCDHGA3	140704370	0.076000	0.21285	1.000000	0.80357	0.364000	0.29643	0.158000	0.16422	0.874000	0.35823	-0.136000	0.14681	CTG		0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		80	365	1	0	6.86016e-32	1	8.08805e-32	80	365				
MYH10	4628	broad.mit.edu	37	17	8381680	8381680	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8381680T>C	ENST00000269243.4	-	39	5727	c.5589A>G	c.(5587-5589)cgA>cgG	p.R1863R	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Silent_p.R1879R|MYH10_ENST00000360416.3_Silent_p.R1894R|MYH10_ENST00000396239.1_Silent_p.R1884R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1863					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGTCCGCGTGTCGACGCTCAT	0.542																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5680-5682)cgA>cgG		myosin, heavy chain 10, non-muscle							152.0	123.0	133.0					17																	8381680		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8381680T>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5589A>G	17.37:g.8381680T>C						MYH10_ENST00000396239.1_Silent_p.R1884R|MYH10_ENST00000269243.4_Silent_p.R1863R|MYH10_ENST00000379980.4_Silent_p.R1879R|NDEL1_ENST00000299734.7_Intron	p.R1894R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			41	5820	-			1863					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.5682A>G	CCDS11144.1																																																																																				0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			26	512	0	0	0	1	0	26	512				
WNT2B	7482	broad.mit.edu	37	1	113059807	113059807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059807G>A	ENST00000369684.4	+	4	1231	c.746G>A	c.(745-747)cGc>cAc	p.R249H	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R230H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	249					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTGCGCACCTGCTGG	0.607																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(745-747)cGc>cAc		wingless-type MMTV integration site family, member 2B							90.0	72.0	78.0					1																	113059807		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059807G>A	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.746G>A	1.37:g.113059807G>A	ENSP00000358698:p.Arg249His					WNT2B_ENST00000369686.4_Missense_Mutation_p.R230H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H	p.R249H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1231	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	249					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.746G>A	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060559	0.93846	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.77620	-1.11;-1.11;-1.11	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.93450	0.6801	10	0.87932	D	0	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	249;230	Q93097;Q93097-2	WNT2B_HUMAN;.	H	157;230;249	ENSP00000256640:R157H;ENSP00000358700:R230H;ENSP00000358698:R249H	ENSP00000256640:R157H	R	+	2	0	WNT2B	112861330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.599000	0.87857	0.555000	0.69702	CGC		0.607	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		69	288	0	0	0	1	0	69	288				
C18orf8	29919	broad.mit.edu	37	18	21106645	21106645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21106645C>A	ENST00000269221.3	+	13	1215	c.1105C>A	c.(1105-1107)Ctc>Atc	p.L369I	C18orf8_ENST00000590868.1_Missense_Mutation_p.L321I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	369						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAGTAAATCTCTTACCAGA	0.428																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(1105-1107)Ctc>Atc		chromosome 18 open reading frame 8							88.0	83.0	85.0					18																	21106645		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21106645C>A	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1105C>A	18.37:g.21106645C>A	ENSP00000269221:p.Leu369Ile					C18orf8_ENST00000590868.1_Missense_Mutation_p.L321I	p.L369I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			13	1215	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		369					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.1105C>A	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574645	0.65878	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.61387	1.9	0.80722	D	1	P	0.45126	0.851	B	0.37550	0.253	T	0.46992	-0.9151	9	0.32370	T	0.25	-20.1358	11.832	0.52301	0.0:0.9194:0.0:0.0806	.	369	Q96DM3	MIC1_HUMAN	I	369;212;321;212	.	ENSP00000269221:L369I	L	+	1	0	C18orf8	19360643	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	4.630000	0.61297	2.407000	0.81776	0.655000	0.94253	CTC		0.428	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		31	344	1	0	1.06801e-11	1	1.14091e-11	31	344				
TOMM34	10953	broad.mit.edu	37	20	43577463	43577463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43577463C>A	ENST00000372813.3	-	5	758	c.606G>T	c.(604-606)gaG>gaT	p.E202D	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	202					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCTTTACAAGCTCATTGCCTT	0.453																																						ENST00000372813.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11						c.(604-606)gaG>gaT		translocase of outer mitochondrial membrane 34							233.0	190.0	204.0					20																	43577463		2203	4300	6503	SO:0001583	missense	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43577463C>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.606G>T	20.37:g.43577463C>A	ENSP00000361900:p.Glu202Asp					PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	p.E202D	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN			5	758	-		Myeloproliferative disorder(115;0.0122)	202					Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	c.606G>T	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493880	0.26774	.	.	ENSG00000025772	ENST00000372813	T	0.74209	-0.82	5.55	3.61	0.41365	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.317848	0.33144	N	0.005230	T	0.61098	0.2320	L	0.49350	1.555	0.23879	N	0.996584	B	0.09022	0.002	B	0.06405	0.002	T	0.41574	-0.9501	10	0.13853	T	0.58	-16.6456	5.1116	0.14811	0.0:0.6308:0.1648:0.2044	.	202	Q15785	TOM34_HUMAN	D	202	ENSP00000361900:E202D	ENSP00000361900:E202D	E	-	3	2	TOMM34	43010877	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.329000	0.19698	0.886000	0.36113	0.585000	0.79938	GAG		0.453	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809		57	257	1	0	2.84144e-21	1	3.19776e-21	57	257				
CHD4	1108	broad.mit.edu	37	12	6700658	6700658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6700658C>T	ENST00000357008.2	-	22	3477	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	CHD4_ENST00000309577.6_Missense_Mutation_p.R1105Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1102Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGCCTCTTGCCGCATGTTCCC	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3313-3315)cGg>cAg		chromodomain helicase DNA binding protein 4							175.0	147.0	156.0					12																	6700658		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700658C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3314G>A	12.37:g.6700658C>T	ENSP00000349508:p.Arg1105Gln					CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q|CHD4_ENST00000357008.2_Missense_Mutation_p.R1105Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1102Q	p.R1105Q			Q14839	CHD4_HUMAN			22	3477	-			1105			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3314G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759737	0.89932	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.964	D	0.98797	1.0738	10	0.87932	D	0	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	1105;1105;1098	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1102;1098;1105;1105;1079	ENSP00000440392:R1102Q;ENSP00000440542:R1098Q;ENSP00000312419:R1105Q;ENSP00000349508:R1105Q	ENSP00000312419:R1105Q	R	-	2	0	CHD4	6570919	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.685000	0.84117	2.409000	0.81822	0.655000	0.94253	CGG		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		74	329	0	0	0	1	0	74	329				
HMCN1	83872	broad.mit.edu	37	1	185992272	185992272	+	Silent	SNP	A	A	G	rs201746135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185992272A>G	ENST00000271588.4	+	36	5965	c.5736A>G	c.(5734-5736)caA>caG	p.Q1912Q	HMCN1_ENST00000367492.2_Silent_p.Q1912Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1912	Ig-like C2-type 16.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCACATTCAACTGCATGTTC	0.373																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(5734-5736)caA>caG		hemicentin 1							114.0	110.0	111.0					1																	185992272		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185992272A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5736A>G	1.37:g.185992272A>G						HMCN1_ENST00000367492.2_Silent_p.Q1912Q	p.Q1912Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			36	5965	+			1912			Ig-like C2-type 16.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.5736A>G	CCDS30956.1																																																																																				0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		92	324	0	0	0	1	0	92	324				
ZNF625	90589	broad.mit.edu	37	19	12256281	12256281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12256281T>C	ENST00000355738.1	-	4	1101	c.752A>G	c.(751-753)cAc>cGc	p.H251R	ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TGTTCGAAGGTGCGAGGCAGA	0.433																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(751-753)cAc>cGc		zinc finger protein 625							120.0	116.0	117.0					19																	12256281		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256281T>C	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.752A>G	19.37:g.12256281T>C	ENSP00000347977:p.His251Arg					ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|ZNF625_ENST00000455799.1_3'UTR	p.H251R			Q96I27	ZN625_HUMAN			4	1101	-			251					A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.752A>G		.	.	.	.	.	.	.	.	.	.	T	9.889	1.203583	0.22121	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.12984	2.63;2.63;2.63	1.13	-1.87	0.07737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	L	0.38692	1.165	0.09310	N	1	B;P	0.36162	0.011;0.54	B;B	0.34093	0.004;0.175	T	0.30031	-0.9992	9	0.25751	T	0.34	.	2.0453	0.03559	0.4188:0.0:0.3046:0.2765	.	251;251	A8K8U0;Q96I27	.;ZN625_HUMAN	R	251;251;317	ENSP00000438436:H251R;ENSP00000347977:H251R;ENSP00000394380:H317R	ENSP00000347977:H251R	H	-	2	0	AC022415.5	12117281	0.000000	0.05858	0.000000	0.03702	0.873000	0.50193	-8.705000	0.00017	-0.491000	0.06697	0.260000	0.18958	CAC		0.433	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		108	512	0	0	0	1	0	108	512				
ECI2	10455	broad.mit.edu	37	6	4130619	4130619	+	Missense_Mutation	SNP	G	G	A	rs149056651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4130619G>A	ENST00000380118.3	-	4	524	c.488C>T	c.(487-489)gCc>gTc	p.A163V	ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.A133V|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.A133V|ECI2_ENST00000361538.2_Missense_Mutation_p.A133V|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	163	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AGTGTTTATGGCATTTTTCTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20935	0.0		0.0	False		,,,				2504	0.001					ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(397-399)gCc>gTc		enoyl-CoA delta isomerase 2							183.0	156.0	165.0					6																	4130619		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4130619G>A	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.488C>T	6.37:g.4130619G>A	ENSP00000369461:p.Ala163Val					ECI2_ENST00000380125.2_Missense_Mutation_p.A133V|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.A133V|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380118.3_Missense_Mutation_p.A163V	p.A133V			O75521	ECI2_HUMAN			4	683	-			163					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.398C>T	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937167	0.73557	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.45	5.95	5.95	0.96441	Crotonase, core (1);	0.336949	0.34291	N	0.004084	D	0.82375	0.5023	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88447	0.3046	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	163	O75521	ECI2_HUMAN	V	163;133;133;133;210	ENSP00000369461:A163V;ENSP00000369468:A133V;ENSP00000354737:A133V;ENSP00000420309:A133V;ENSP00000417459:A210V	ENSP00000354737:A133V	A	-	2	0	ECI2	4075618	1.000000	0.71417	0.652000	0.29579	0.193000	0.23685	7.516000	0.81772	2.825000	0.97269	0.655000	0.94253	GCC		0.428	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		49	233	0	0	0	1	0	49	233				
ASIC4	55515	broad.mit.edu	37	2	220379823	220379823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379823C>T	ENST00000347842.3	+	1	772	c.758C>T	c.(757-759)tCg>tTg	p.S253L	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.S253L	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	253					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TTCCGGCATTCGGCACTCAGC	0.672																																						ENST00000358078.4																			0											c.(757-759)tCg>tTg		acid-sensing (proton-gated) ion channel family member 4							42.0	38.0	39.0					2																	220379823		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379823C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.758C>T	2.37:g.220379823C>T	ENSP00000326627:p.Ser253Leu					ASIC4_ENST00000347842.3_Missense_Mutation_p.S253L|AC053503.11_ENST00000429882.1_RNA	p.S253L			Q96FT7	ACCN4_HUMAN			1	772	+			253					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.758C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772509	0.69992	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.70045	-0.45;-0.45	4.69	4.69	0.59074	.	0.376783	0.23750	N	0.044926	T	0.81187	0.4770	M	0.91354	3.2	0.80722	D	1	P;P;P	0.52842	0.722;0.956;0.956	B;P;B	0.51806	0.241;0.68;0.161	D	0.86523	0.1817	10	0.72032	D	0.01	-6.7538	17.4292	0.87534	0.0:1.0:0.0:0.0	.	253;253;253	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	L	253	ENSP00000326627:S253L;ENSP00000350786:S253L	ENSP00000326627:S253L	S	+	2	0	ACCN4	220088067	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.797000	0.69087	2.431000	0.82371	0.655000	0.94253	TCG		0.672	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		114	246	0	0	0	1	0	114	246				
MED27	9442	broad.mit.edu	37	9	134955158	134955158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134955158C>T	ENST00000292035.5	-	1	137	c.74G>A	c.(73-75)cGc>cAc	p.R25H	MED27_ENST00000474263.1_Missense_Mutation_p.R25H|MED27_ENST00000357028.2_Missense_Mutation_p.R25H|RP11-32B11.2_ENST00000444872.2_RNA	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	25					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CACGCTGGAGCGCAGCGCCTG	0.602																																					Colon(41;784 923 6932 42329 52483)	ENST00000292035.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18						c.(73-75)cGc>cAc		mediator complex subunit 27							46.0	45.0	45.0					9																	134955158		2203	4300	6503	SO:0001583	missense	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134955158C>T	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.74G>A	9.37:g.134955158C>T	ENSP00000292035:p.Arg25His					MED27_ENST00000357028.2_5'UTR|MED27_ENST00000474263.1_5'UTR|MED27_ENST00000372184.3_Missense_Mutation_p.R25H	p.R25H	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	1	137	-		Myeloproliferative disorder(178;0.206)	25					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	c.74G>A	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	C	36	5.751356	0.96890	.	.	ENSG00000160563	ENST00000292035;ENST00000372184	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.984;0.964	T	0.81344	-0.0975	9	0.66056	D	0.02	-5.2962	18.591	0.91212	0.0:1.0:0.0:0.0	.	25;25;25	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	H	25	.	ENSP00000292035:R25H	R	-	2	0	MED27	133944979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.538000	0.82048	2.625000	0.88918	0.650000	0.86243	CGC		0.602	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		9	255	0	0	0	1	0	9	255				
TLN2	83660	broad.mit.edu	37	15	63019326	63019326	+	Missense_Mutation	SNP	C	C	T	rs201378780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63019326C>T	ENST00000561311.1	+	27	3526	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V			Q9Y4G6	TLN2_HUMAN	talin 2	1099	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACATCCAAGGCGGTGGGCTCC	0.532																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3295-3297)gCg>gTg		talin 2		C	VAL/ALA	0,4406		0,0,2203	86.0	75.0	79.0		3296	4.3	0.5	15		79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TLN2	NM_015059.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1099/2543	63019326	1,13005	2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63019326C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3296C>T	15.37:g.63019326C>T	ENSP00000453508:p.Ala1099Val					TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V	p.A1099V			Q9Y4G6	TLN2_HUMAN			27	3526	+			1099			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3296C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569842	0.45798	0.0	1.16E-4	ENSG00000171914	ENST00000306829	T	0.15139	2.45	5.27	4.33	0.51752	.	0.150976	0.64402	D	0.000013	T	0.18383	0.0441	M	0.66506	2.035	0.36145	D	0.84707	P	0.39601	0.68	B	0.31191	0.125	T	0.23297	-1.0192	10	0.33141	T	0.24	-7.9278	15.8286	0.78733	0.0:0.8591:0.1409:0.0	.	1099	Q9Y4G6	TLN2_HUMAN	V	1099	ENSP00000303476:A1099V	ENSP00000303476:A1099V	A	+	2	0	TLN2	60806618	1.000000	0.71417	0.531000	0.27976	0.411000	0.31082	6.092000	0.71414	1.300000	0.44818	0.650000	0.86243	GCG		0.532	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			43	207	0	0	0	1	0	43	207				
IKZF1	10320	broad.mit.edu	37	7	50459558	50459558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50459558C>A	ENST00000331340.3	+	7	1002	c.847C>A	c.(847-849)Ctt>Att	p.L283I	IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	283					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCAGAAATTTCTTGGTAAGAG	0.408			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(847-849)Ctt>Att		IKAROS family zinc finger 1 (Ikaros)							46.0	45.0	45.0					7																	50459558		1834	4093	5927	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50459558C>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.847C>A	7.37:g.50459558C>A	ENSP00000331614:p.Leu283Ile					IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000357364.4_Intron	p.L283I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			7	1002	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	283					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.847C>A		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136583	0.37728	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T	0.06142	3.34;3.46;3.43;3.34;3.46	5.23	4.35	0.52113	.	0.060996	0.64402	D	0.000004	T	0.05044	0.0135	.	.	.	0.80722	D	1	B;B;B	0.22480	0.07;0.01;0.042	B;B;B	0.21360	0.034;0.03;0.015	T	0.38542	-0.9656	9	0.14252	T	0.57	-18.0347	13.6093	0.62068	0.0:0.2506:0.7494:0.0	.	196;241;283	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	I	196;241;283;196;241	ENSP00000342750:L196I;ENSP00000352123:L241I;ENSP00000331614:L283I;ENSP00000396554:L196I;ENSP00000413025:L241I	ENSP00000331614:L283I	L	+	1	0	IKZF1	50427052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.621000	0.61233	1.192000	0.43071	0.563000	0.77884	CTT		0.408	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		18	77	1	0	3.52763e-06	1	3.62938e-06	18	77				
CRYGD	1421	broad.mit.edu	37	2	208986578	208986578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208986578C>T	ENST00000264376.4	-	3	371	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	115	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAAGCGGAAGCGGTCCTGAAG	0.562																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(343-345)cGc>cAc		crystallin, gamma D							123.0	117.0	119.0					2																	208986578		2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986578C>T		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.344G>A	2.37:g.208986578C>T	ENSP00000264376:p.Arg115His						p.R115H	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	371	-			115			Beta/gamma crystallin 'Greek key' 3.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.344G>A	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528104	0.44969	.	.	ENSG00000118231	ENST00000264376	T	0.75704	-0.96	4.25	3.34	0.38264	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.065041	0.64402	D	0.000007	T	0.70029	0.3177	M	0.78223	2.4	0.40858	D	0.983814	B	0.16396	0.017	B	0.17433	0.018	T	0.66221	-0.5978	10	0.40728	T	0.16	.	5.9174	0.19063	0.0:0.7564:0.0:0.2436	.	115	P07320	CRGD_HUMAN	H	115	ENSP00000264376:R115H	ENSP00000264376:R115H	R	-	2	0	CRYGD	208694823	0.093000	0.21703	1.000000	0.80357	0.990000	0.78478	0.550000	0.23345	0.947000	0.37659	0.555000	0.69702	CGC		0.562	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		108	492	0	0	0	1	0	108	492				
ZNF775	285971	broad.mit.edu	37	7	150094568	150094568	+	Silent	SNP	C	C	T	rs535894219		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094568C>T	ENST00000329630.5	+	3	1106	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCACACAGGCGAGCGCCCGC	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		4812	0.001		0.0	False		,,,				2504	0.0					ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(997-999)ggC>ggT		zinc finger protein 775							9.0	11.0	10.0					7																	150094568		2127	4227	6354	SO:0001819	synonymous_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094568C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.999C>T	7.37:g.150094568C>T							p.G333G	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1106	+	Ovarian(565;0.183)|Melanoma(164;0.226)		333					Q8IY24	Silent	SNP	ENST00000329630.5	37	c.999C>T	CCDS43678.1																																																																																				0.726	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		16	104	0	0	0	1	0	16	104				
EPHB2	2048	broad.mit.edu	37	1	23222070	23222070	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23222070A>G	ENST00000400191.3	+	8	1715	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	566					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATCGTGTGTAACAGGTGGGTG	0.577																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1696-1698)aAc>aGc		EPH receptor B2							101.0	88.0	92.0					1																	23222070		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23222070A>G	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1697A>G	1.37:g.23222070A>G	ENSP00000383053:p.Asn566Ser					EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S|EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S	p.N566S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	8	1715	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	566					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1697A>G		.	.	.	.	.	.	.	.	.	.	A	6.939	0.543039	0.13250	.	.	ENSG00000133216	ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.98	4.98	0.66077	.	0.430341	0.23937	N	0.043085	T	0.02848	0.0085	N	0.00525	-1.395	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45411	-0.9263	10	0.22109	T	0.4	.	8.3167	0.32104	0.9114:0.0:0.0886:0.0	.	566;584;566	P29323;Q4LE53;P29323-3	EPHB2_HUMAN;.;.	S	566;566;566;561	ENSP00000363761:N566S;ENSP00000383053:N566S;ENSP00000363763:N566S;ENSP00000363758:N561S	ENSP00000363758:N561S	N	+	2	0	EPHB2	23094657	0.955000	0.32602	1.000000	0.80357	0.993000	0.82548	1.048000	0.30379	2.082000	0.62665	0.533000	0.62120	AAC		0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		21	313	0	0	0	1	0	21	313				
COL21A1	81578	broad.mit.edu	37	6	56035650	56035650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035650C>T	ENST00000244728.5	-	5	1220	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	275	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGAAGACCTTCTGGGAAAACA	0.348																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(823-825)Gaa>Aaa		collagen, type XXI, alpha 1							72.0	62.0	65.0					6																	56035650		1819	4075	5894	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035650C>T	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.823G>A	6.37:g.56035650C>T	ENSP00000244728:p.Glu275Lys					COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K	p.E275K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		5	1220	-	Lung NSC(77;0.0483)		275			TSP N-terminal.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.823G>A	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923244	0.73213	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.15603	2.41;2.41;2.41	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.52532	U	0.000071	T	0.25306	0.0615	L	0.60455	1.87	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.73380	0.879;0.98	T	0.03221	-1.1059	10	0.16896	T	0.51	.	17.5385	0.87840	0.0:1.0:0.0:0.0	.	275;275	Q96P44-3;Q96P44	.;COLA1_HUMAN	K	275	ENSP00000244728:E275K;ENSP00000359855:E275K;ENSP00000444384:E275K	ENSP00000244728:E275K	E	-	1	0	COL21A1	56143609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.126000	0.65437	0.591000	0.81541	GAA		0.348	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			19	55	0	0	0	1	0	19	55				
XRCC5	7520	broad.mit.edu	37	2	217002842	217002842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217002842G>A	ENST00000392133.3	+	14	1743	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	428	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCCTTTCATGGAAGACTTGCG	0.363								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1282-1284)Gaa>Aaa	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							109.0	105.0	106.0					2																	217002842		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:217002842G>A	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1282G>A	2.37:g.217002842G>A	ENSP00000375978:p.Glu428Lys					XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K|XRCC5_ENST00000471649.1_3'UTR	p.E428K			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	14	1743	+		Renal(323;0.0328)	428			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.1282G>A	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	36	5.668745	0.96754	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80696	-0.1267	10	0.72032	D	0.01	.	18.51	0.90913	0.0:0.0:1.0:0.0	.	428	P13010	XRCC5_HUMAN	K	428	ENSP00000375978:E428K;ENSP00000375977:E428K	ENSP00000375977:E428K	E	+	1	0	XRCC5	216711087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.333000	0.96459	2.606000	0.88127	0.655000	0.94253	GAA		0.363	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		50	284	0	0	0	1	0	50	284				
MTR	4548	broad.mit.edu	37	1	237013811	237013811	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237013811A>G	ENST00000366577.5	+	16	2077	c.1683A>G	c.(1681-1683)acA>acG	p.T561T	MTR_ENST00000535889.1_Silent_p.T561T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	561	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCCATGCAACAAAAGTCATTA	0.348																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(1681-1683)acA>acG		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						119.0	108.0	112.0					1																	237013811		2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237013811A>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1683A>G	1.37:g.237013811A>G						MTR_ENST00000535889.1_Silent_p.T561T	p.T561T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	16	2077	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	561			Pterin-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.1683A>G	CCDS1614.1																																																																																				0.348	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		56	314	0	0	0	1	0	56	314				
NEB	4703	broad.mit.edu	37	2	152584236	152584236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152584236T>C	ENST00000172853.10	-	5	410	c.263A>G	c.(262-264)cAc>cGc	p.H88R	NEB_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000397345.3_Missense_Mutation_p.H88R|NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000427231.2_Missense_Mutation_p.H88R			P20929	NEBU_HUMAN	nebulin	88					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCTGACTGTGTGCAATGTA	0.453																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(262-264)cAc>cGc		nebulin							77.0	75.0	76.0					2																	152584236		1902	4128	6030	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152584236T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.263A>G	2.37:g.152584236T>C	ENSP00000172853:p.His88Arg					NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000172853.10_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000427231.2_Missense_Mutation_p.H88R	p.H88R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	5	465	-			88					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.263A>G		.	.	.	.	.	.	.	.	.	.	T	22.7	4.329017	0.81690	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.13272	0.32	0.80722	D	1	B	0.33841	0.428	P	0.44921	0.464	T	0.18555	-1.0333	10	0.06365	T	0.9	.	15.3932	0.74767	0.0:0.0:0.0:1.0	.	88	P20929	NEBU_HUMAN	R	88	ENSP00000386259:H88R;ENSP00000380505:H88R;ENSP00000416578:H88R;ENSP00000172853:H88R	ENSP00000172853:H88R	H	-	2	0	NEB	152292482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.010000	0.76353	2.308000	0.77769	0.533000	0.62120	CAC		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		39	221	0	0	0	1	0	39	221				
RRAGB	10325	broad.mit.edu	37	X	55748704	55748704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55748704G>A	ENST00000262850.7	+	3	655	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RRAGB_ENST00000374941.4_Missense_Mutation_p.R71H	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GACACACGTCGCCTTGGCGCA	0.398																																						ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(211-213)cGc>cAc		Ras-related GTP binding B							109.0	92.0	98.0					X																	55748704		2203	4300	6503	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55748704G>A	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.212G>A	X.37:g.55748704G>A	ENSP00000262850:p.Arg71His					RRAGB_ENST00000262850.7_Missense_Mutation_p.R71H	p.R71H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN			3	801	+			71						Missense_Mutation	SNP	ENST00000262850.7	37	c.212G>A	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542817	0.65198	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.68025	-0.3;-0.2	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	M	0.86502	2.82	0.80722	D	1	D;P	0.89917	1.0;0.593	P;B	0.58172	0.834;0.117	D	0.83654	0.0157	10	0.51188	T	0.08	-5.9192	14.5113	0.67789	0.0:0.0:1.0:0.0	.	71;71	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	H	71;33;71	ENSP00000364077:R71H;ENSP00000410630:R33H	ENSP00000262850:R71H	R	+	2	0	RRAGB	55765429	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	8.725000	0.91468	2.224000	0.72417	0.544000	0.68410	CGC		0.398	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		48	176	0	0	0	1	0	48	176				
RASL11B	65997	broad.mit.edu	37	4	53731794	53731794	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731794T>C	ENST00000248706.3	+	4	787	c.569T>C	c.(568-570)gTc>gCc	p.V190A	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATAATGATGTCTACAGCGCC	0.502																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(568-570)gTc>gCc		RAS-like, family 11, member B							173.0	170.0	171.0					4																	53731794		2203	4300	6503	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731794T>C	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.569T>C	4.37:g.53731794T>C	ENSP00000248706:p.Val190Ala					RASL11B_ENST00000505041.1_3'UTR	p.V190A	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	787	+			190			Small GTPase-like.			Missense_Mutation	SNP	ENST00000248706.3	37	c.569T>C	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.071696	0.55646	.	.	ENSG00000128045	ENST00000248706	D	0.82167	-1.58	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.86573	2.825	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93249	0.6633	10	0.87932	D	0	.	14.9182	0.70815	0.0:0.0:0.0:1.0	.	190	Q9BPW5	RSLBB_HUMAN	A	190	ENSP00000248706:V190A	ENSP00000248706:V190A	V	+	2	0	RASL11B	53426551	1.000000	0.71417	0.996000	0.52242	0.042000	0.13812	7.694000	0.84235	2.099000	0.63709	0.533000	0.62120	GTC		0.502	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		175	821	0	0	0	1	0	175	821				
SLC25A48	153328	broad.mit.edu	37	5	135207441	135207441	+	Intron	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135207441T>C	ENST00000420621.1	+	5	851				SLC25A48_ENST00000433282.2_Intron|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000274513.5_Missense_Mutation_p.V238A|SLC25A48_ENST00000412661.2_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CGCACCCCTGTGCAGGCCACA	0.637																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(712-714)gTg>gCg		solute carrier family 25, member 48							21.0	23.0	22.0					5																	135207441		1960	4152	6112	SO:0001627	intron_variant	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135207441T>C		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.679+34T>C	5.37:g.135207441T>C						SLC25A48_ENST00000433282.2_Intron|SLC25A48_ENST00000420621.1_Intron|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron	p.V238A			Q6ZT89	S2548_HUMAN			5	885	+			237					Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.713T>C		.	.	.	.	.	.	.	.	.	.	T	12.19	1.865098	0.32977	.	.	ENSG00000145832	ENST00000274513	D	0.82081	-1.57	4.77	-2.37	0.06643	.	2.020340	0.03043	N	0.153621	T	0.68924	0.3054	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.53767	-0.8392	9	0.19147	T	0.46	.	8.3027	0.32023	0.0:0.3108:0.5039:0.1853	.	238	Q6ZT89-2	.	A	238	ENSP00000274513:V238A	ENSP00000274513:V238A	V	+	2	0	SLC25A48	135235340	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.465000	0.06680	-0.233000	0.09797	-0.464000	0.05259	GTG		0.637	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		23	103	0	0	0	1	0	23	103				
AP4B1	10717	broad.mit.edu	37	1	114440517	114440517	+	Missense_Mutation	SNP	G	G	A	rs553444896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114440517G>A	ENST00000369569.1	-	7	1527	c.1247C>T	c.(1246-1248)aCt>aTt	p.T416I	AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	416					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCTTCAGTACACTGAGG	0.502																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1246-1248)aCt>aTt		adaptor-related protein complex 4, beta 1 subunit							135.0	113.0	121.0					1																	114440517		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114440517G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1247C>T	1.37:g.114440517G>A	ENSP00000358582:p.Thr416Ile					AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I|AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	p.T416I	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1527	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	416					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1247C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887404	0.52014	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.25414	1.8;1.8;1.8	5.52	4.6	0.57074	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.314320	0.37437	N	0.002085	T	0.04092	0.0114	N	0.01431	-0.87	0.80722	D	1	B;B;B	0.17038	0.005;0.02;0.012	B;B;B	0.19666	0.026;0.018;0.014	T	0.16100	-1.0414	10	0.40728	T	0.16	.	9.7978	0.40746	0.1548:0.0:0.8452:0.0	.	248;416;317	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	I	248;416;416	ENSP00000358580:T248I;ENSP00000358582:T416I;ENSP00000256658:T416I	ENSP00000256658:T416I	T	-	2	0	AP4B1	114242040	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	3.377000	0.52425	2.588000	0.87417	0.462000	0.41574	ACT		0.502	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		50	204	0	0	0	1	0	50	204				
PRR16	51334	broad.mit.edu	37	5	119800284	119800284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:119800284G>A	ENST00000407149.2	+	1	312	c.103G>A	c.(103-105)Gag>Aag	p.E35K	PRR16_ENST00000379551.2_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16	35					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GATCATCGTGGAGGATTTGGA	0.602																																						ENST00000407149.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(103-105)Gag>Aag		proline rich 16							18.0	16.0	17.0					5																	119800284		876	1990	2866	SO:0001583	missense	51334							g.chr5:119800284G>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.103G>A	5.37:g.119800284G>A	ENSP00000385118:p.Glu35Lys					PRR16_ENST00000379551.2_5'UTR	p.E35K			Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	1	312	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	35					D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.103G>A		.	.	.	.	.	.	.	.	.	.	G	14.14	2.445621	0.43429	.	.	ENSG00000184838	ENST00000407149	T	0.49720	0.77	4.57	3.62	0.41486	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.80722	D	1	B	0.25904	0.137	B	0.29942	0.109	T	0.13602	-1.0503	7	.	.	.	-8.1888	13.2731	0.60172	0.0:0.1604:0.8396:0.0	.	35	Q569H4	PRR16_HUMAN	K	35	ENSP00000385118:E35K	.	E	+	1	0	PRR16	119828183	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	4.959000	0.63666	2.253000	0.74438	0.561000	0.74099	GAG		0.602	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		8	53	0	0	0	1	0	8	53				
ART4	420	broad.mit.edu	37	12	14995976	14995976	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14995976G>A	ENST00000228936.4	-	1	453	c.72C>T	c.(70-72)atC>atT	p.I24I	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	24					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAAGGAGCCAGATTCTCATCG	0.522																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(70-72)atC>atT		ADP-ribosyltransferase 4							109.0	97.0	101.0					12																	14995976		2203	4300	6503	SO:0001819	synonymous_variant	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14995976G>A	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.72C>T	12.37:g.14995976G>A						RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	p.I24I	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			1	453	-			24					Q9BZ50|Q9BZ51|Q9HB06	Silent	SNP	ENST00000228936.4	37	c.72C>T	CCDS8668.1																																																																																				0.522	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		38	154	0	0	0	1	0	38	154				
AKAP11	11215	broad.mit.edu	37	13	42877029	42877029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42877029G>A	ENST00000025301.2	+	8	4322	c.4147G>A	c.(4147-4149)Gca>Aca	p.A1383T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1383					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTACAGGAAGCAGCTAAGAC	0.388																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4147-4149)Gca>Aca		A kinase (PRKA) anchor protein 11							74.0	70.0	71.0					13																	42877029		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877029G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4147G>A	13.37:g.42877029G>A	ENSP00000025301:p.Ala1383Thr						p.A1383T	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4322	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1383					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4147G>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989871	0.93106	.	.	ENSG00000023516	ENST00000025301	T	0.60920	0.15	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77281	-0.2646	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1383	Q9UKA4	AKA11_HUMAN	T	1383	ENSP00000025301:A1383T	ENSP00000025301:A1383T	A	+	1	0	AKAP11	41775029	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.368000	0.97152	2.937000	0.99478	0.650000	0.86243	GCA		0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		10	302	0	0	0	1	0	10	302				
RNF219	79596	broad.mit.edu	37	13	79190301	79190301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190301G>T	ENST00000282003.6	-	6	1653	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	532	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AAGGTAAGCAGCATCCATCGA	0.398																																						ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(1594-1596)gCt>gAt		ring finger protein 219							129.0	131.0	130.0					13																	79190301		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79190301G>T	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1595C>A	13.37:g.79190301G>T	ENSP00000282003:p.Ala532Asp					RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	p.A532D	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	1653	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	532			Ser-rich.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.1595C>A	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016137	0.75161	.	.	ENSG00000152193	ENST00000282003	T	0.14516	2.5	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000003	T	0.37210	0.0995	L	0.56769	1.78	0.53688	D	0.999979	D	0.89917	1.0	D	0.74023	0.982	T	0.01925	-1.1246	10	0.87932	D	0	-8.9543	20.2019	0.98263	0.0:0.0:1.0:0.0	.	532	Q5W0B1	RN219_HUMAN	D	532	ENSP00000282003:A532D	ENSP00000282003:A532D	A	-	2	0	RNF219	78088302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.934000	0.70138	2.776000	0.95493	0.655000	0.94253	GCT		0.398	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		92	595	1	0	1.61229e-46	1	1.9812e-46	92	595				
LRP1	4035	broad.mit.edu	37	12	57539109	57539109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57539109G>T	ENST00000243077.3	+	6	1143	c.677G>T	c.(676-678)aGc>aTc	p.S226I	LRP1_ENST00000338962.4_Missense_Mutation_p.S226I|LRP1_ENST00000553277.1_Missense_Mutation_p.S226I|LRP1_ENST00000554174.1_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	226					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCTACGAGCACGCGGCAG	0.597																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(676-678)aGc>aTc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						113.0	66.0	82.0					12																	57539109		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57539109G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.677G>T	12.37:g.57539109G>T	ENSP00000243077:p.Ser226Ile					LRP1_ENST00000554174.1_Missense_Mutation_p.S226I|LRP1_ENST00000553277.1_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000338962.4_Missense_Mutation_p.S226I	p.S226I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	6	1143	+			226					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.677G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421785	0.43020	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.91124	-2.65;-2.79;-2.6;-2.79	5.08	5.08	0.68730	Six-bladed beta-propeller, TolB-like (1);	0.130255	0.48286	D	0.000194	D	0.88043	0.6331	M	0.62723	1.935	0.37173	D	0.903141	B;B;B;P	0.45902	0.244;0.244;0.411;0.868	B;B;B;B	0.36666	0.075;0.079;0.097;0.23	D	0.90319	0.4343	10	0.42905	T	0.14	.	16.3808	0.83460	0.0:0.0:1.0:0.0	.	226;226;226;226	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	I	226	ENSP00000451449:S226I;ENSP00000243077:S226I;ENSP00000341264:S226I;ENSP00000451737:S226I	ENSP00000243077:S226I	S	+	2	0	LRP1	55825376	1.000000	0.71417	0.999000	0.59377	0.667000	0.39255	3.498000	0.53302	2.826000	0.97356	0.655000	0.94253	AGC		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		30	178	1	0	2.12542e-12	1	2.28249e-12	30	178				
MMP10	4319	broad.mit.edu	37	11	102647433	102647433	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102647433C>A	ENST00000279441.4	-	5	733	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	233					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TACATCAAAGCTTCAGTGTTG	0.473																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(697-699)Gct>Tct		matrix metallopeptidase 10 (stromelysin 2)							136.0	127.0	130.0					11																	102647433		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647433C>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.697G>T	11.37:g.102647433C>A	ENSP00000279441:p.Ala233Ser						p.A233S	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	733	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	233					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.697G>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	c	19.51	3.841626	0.71488	.	.	ENSG00000166670	ENST00000279441	T	0.11930	2.73	4.31	2.35	0.29111	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.283692	0.26627	N	0.023340	T	0.17874	0.0429	L	0.37507	1.11	0.48288	D	0.999629	B	0.33280	0.405	P	0.47827	0.558	T	0.05321	-1.0892	10	0.48119	T	0.1	.	8.7369	0.34534	0.1544:0.7654:0.0:0.0802	.	233	P09238	MMP10_HUMAN	S	233	ENSP00000279441:A233S	ENSP00000279441:A233S	A	-	1	0	MMP10	102152643	0.661000	0.27430	0.002000	0.10522	0.004000	0.04260	1.335000	0.33839	0.493000	0.27837	0.655000	0.94253	GCT		0.473	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			79	408	1	0	5.41795e-27	1	6.26308e-27	79	408				
DYRK4	8798	broad.mit.edu	37	12	4708305	4708305	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4708305G>T	ENST00000540757.2	+	7	832	c.672G>T	c.(670-672)gaG>gaT	p.E224D	DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D|DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCGGTAGAGAAAATCATTC	0.458																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(670-672)gaG>gaT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							132.0	120.0	124.0					12																	4708305		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708305G>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.672G>T	12.37:g.4708305G>T	ENSP00000441755:p.Glu224Asp					DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D|DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D	p.E224D	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		7	832	+			224			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.672G>T	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458111	0.63401	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.66939	2.045	0.80722	D	1	D;P;P	0.63880	0.993;0.93;0.888	D;P;P	0.63488	0.915;0.646;0.661	T	0.76806	-0.2823	10	0.51188	T	0.08	.	9.6876	0.40109	0.1571:0.0:0.8429:0.0	.	339;224;224	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	D	339;224;224;224	ENSP00000437534:E339D;ENSP00000441755:E224D;ENSP00000010132:E224D;ENSP00000439697:E224D	ENSP00000010132:E224D	E	+	3	2	DYRK4	4578566	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	1.103000	0.31062	2.467000	0.83353	0.555000	0.69702	GAG		0.458	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			80	347	1	0	1.04643e-32	1	1.23697e-32	80	347				
MS4A7	58475	broad.mit.edu	37	11	60150639	60150639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60150639G>A	ENST00000300184.3	+	2	221	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	MS4A7_ENST00000358246.1_Missense_Mutation_p.G9R|MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.G9R	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	9						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CCAAACCATGGGGGTTTCTCA	0.458																																						ENST00000358246.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(25-27)Ggg>Agg		membrane-spanning 4-domains, subfamily A, member 7							117.0	106.0	110.0					11																	60150639		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60150639G>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.25G>A	11.37:g.60150639G>A	ENSP00000300184:p.Gly9Arg					MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.G9R|MS4A7_ENST00000530234.2_Missense_Mutation_p.G9R	p.G9R	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN			2	218	+			9					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.25G>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	7.112	0.576130	0.13623	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.53857	3.01;2.23;2.23;2.17;2.49;0.6	3.8	-2.88	0.05682	.	3.885760	0.00659	N	0.000595	T	0.28001	0.0690	N	0.10809	0.05	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.04165	-1.0972	10	0.23891	T	0.37	-24.2312	1.0142	0.01504	0.4079:0.1555:0.2782:0.1584	.	9;9;9	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	R	9	ENSP00000300184:G9R;ENSP00000350983:G9R;ENSP00000434637:G9R;ENSP00000433861:G9R;ENSP00000434819:G9R;ENSP00000433184:G9R	ENSP00000300184:G9R	G	+	1	0	MS4A7	59907215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.629000	0.05575	-0.137000	0.14449	GGG		0.458	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			80	323	0	0	0	1	0	80	323				
CACNB2	783	broad.mit.edu	37	10	18828262	18828262	+	Missense_Mutation	SNP	G	G	A	rs184280124	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828262G>A	ENST00000324631.7	+	14	1652	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CACNB2_ENST00000396576.2_Missense_Mutation_p.R476H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	531					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.R507H(1)|p.R476H(1)|p.R477H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCAGCACCGCTCTTCCTCC	0.557													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18352	0.0		0.0	False		,,,				2504	0.0					ENST00000396576.2																			3	Substitution - Missense(3)	p.R507H(1)|p.R476H(1)|p.R477H(1)	lung(3)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1426-1428)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						91.0	85.0	87.0					10																	18828262		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828262G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1592G>A	10.37:g.18828262G>A	ENSP00000320025:p.Arg531His					CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R531H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H	p.R476H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	1928	+			531					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1427G>A	CCDS7125.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.43	3.119971	0.56613	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83914	-1.73;1.83;-1.78;-1.73;1.83;-1.73;-1.73;-1.72;-1.73	5.84	5.84	0.93424	.	0.547984	0.18806	N	0.130660	D	0.85120	0.5624	N	0.14661	0.345	0.58432	D	0.999992	D;D;D;D;B;D;D;D;D;D;D;D;D	0.89917	0.971;1.0;1.0;0.992;0.091;0.995;0.981;0.999;1.0;1.0;0.983;1.0;1.0	P;D;D;P;B;P;B;P;D;D;P;D;D	0.74674	0.474;0.964;0.955;0.584;0.016;0.763;0.443;0.891;0.935;0.984;0.674;0.984;0.964	D	0.85703	0.1314	10	0.45353	T	0.12	-10.7463	20.1511	0.98086	0.0:0.0:1.0:0.0	.	445;503;281;483;453;477;487;438;479;503;493;507;531	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	531;507;281;503;479;476;438;477;483	ENSP00000320025:R531H;ENSP00000344474:R507H;ENSP00000366545:R281H;ENSP00000282343:R503H;ENSP00000366548:R479H;ENSP00000379821:R476H;ENSP00000366536:R438H;ENSP00000366546:R477H;ENSP00000366532:R483H	ENSP00000282343:R503H	R	+	2	0	CACNB2	18868268	1.000000	0.71417	0.826000	0.32828	0.985000	0.73830	8.500000	0.90498	2.778000	0.95560	0.655000	0.94253	CGC		0.557	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		53	252	0	0	0	1	0	53	252				
FCGBP	8857	broad.mit.edu	37	19	40384075	40384075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40384075C>T	ENST00000221347.6	-	21	9542	c.9535G>A	c.(9535-9537)Gta>Ata	p.V3179I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3179	TIL 7.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTCACATACGGCTGGCGTC	0.652																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(9535-9537)Gta>Ata		Fc fragment of IgG binding protein																																				SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40384075C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9535G>A	19.37:g.40384075C>T	ENSP00000221347:p.Val3179Ile						p.V3179I	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		21	9542	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3179			TIL 7.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.9535G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108219	0.20714	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	3.01	-2.27	0.06846	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.66790	0.2825	N	0.21583	0.68	0.09310	N	1	P	0.47910	0.902	P	0.49361	0.608	T	0.59295	-0.7481	9	0.22706	T	0.39	.	8.5511	0.33451	0.0:0.5821:0.2724:0.1455	.	3179	Q9Y6R7	FCGBP_HUMAN	I	3179	ENSP00000221347:V3179I	ENSP00000221347:V3179I	V	-	1	0	FCGBP	45075915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.723000	0.01866	-0.364000	0.08088	-0.723000	0.03601	GTA		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		77	869	0	0	0	1	0	77	869				
RXRA	6256	broad.mit.edu	37	9	137328346	137328346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137328346G>A	ENST00000481739.1	+	10	1327	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	RXRA_ENST00000540193.1_Silent_p.L328L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	425	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TGCCGGCTCTGCGCTCCATCG	0.617																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(982-984)ctG>ctA		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						125.0	112.0	116.0					9																	137328346		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328346G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1275G>A	9.37:g.137328346G>A						RXRA_ENST00000481739.1_Silent_p.L425L|RXRA_ENST00000356384.4_3'UTR	p.L328L			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	9	1907	+			425			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.984G>A	CCDS35172.1																																																																																				0.617	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		21	548	0	0	0	1	0	21	548				
SNX19	399979	broad.mit.edu	37	11	130785193	130785193	+	Silent	SNP	G	G	A	rs563508695		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130785193G>A	ENST00000265909.4	-	1	1211	c.642C>T	c.(640-642)ggC>ggT	p.G214G	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.G214G	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	214	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AATTCACAACGCCACGCGTAT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		21990	0.0		0.0	False		,,,				2504	0.001					ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(640-642)ggC>ggT		sorting nexin 19							42.0	39.0	40.0					11																	130785193		2201	4297	6498	SO:0001819	synonymous_variant	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785193G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.642C>T	11.37:g.130785193G>A						SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.G214G|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron	p.G214G	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1211	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	214			PXA.		E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	37	c.642C>T	CCDS31721.1																																																																																				0.572	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		42	183	0	0	0	1	0	42	183				
C8orf74	203076	broad.mit.edu	37	8	10557846	10557846	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10557846G>T	ENST00000304519.5	+	4	779	c.750G>T	c.(748-750)ctG>ctT	p.L250L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	250										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGGACCTGAAGCTTCAGA	0.607																																						ENST00000304519.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(748-750)ctG>ctT		chromosome 8 open reading frame 74							88.0	94.0	92.0					8																	10557846		2001	4174	6175	SO:0001819	synonymous_variant	203076							g.chr8:10557846G>T	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.750G>T	8.37:g.10557846G>T						RP1L1_ENST00000329335.3_Intron	p.L250L	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	779	+			250					A2RUD6	Silent	SNP	ENST00000304519.5	37	c.750G>T	CCDS47800.1																																																																																				0.607	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		69	373	1	0	8.50881e-52	1	1.05702e-51	69	373				
MRAP2	112609	broad.mit.edu	37	6	84798871	84798871	+	Missense_Mutation	SNP	C	C	A	rs145761372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84798871C>A	ENST00000257776.4	+	4	424	c.289C>A	c.(289-291)Cct>Act	p.P97T		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	97					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTGGAAGACCTCTGGAGCC	0.433																																						ENST00000257776.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(289-291)Cct>Act		melanocortin 2 receptor accessory protein 2							89.0	90.0	90.0					6																	84798871		2203	4300	6503	SO:0001583	missense	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84798871C>A	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.289C>A	6.37:g.84798871C>A	ENSP00000257776:p.Pro97Thr						p.P97T	NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN			4	424	+			97					A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	c.289C>A	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785756	0.70337	.	.	ENSG00000135324	ENST00000257776	D	0.88741	-2.42	5.18	5.18	0.71444	.	0.274181	0.36034	N	0.002832	T	0.77877	0.4196	L	0.38531	1.155	0.42806	D	0.99394	B	0.30851	0.297	B	0.27262	0.078	T	0.80254	-0.1459	10	0.56958	D	0.05	-5.0941	13.9655	0.64207	0.1516:0.8483:0.0:0.0	.	97	Q96G30	MRAP2_HUMAN	T	97	ENSP00000257776:P97T	ENSP00000257776:P97T	P	+	1	0	MRAP2	84855590	0.986000	0.35501	0.992000	0.48379	0.996000	0.88848	3.005000	0.49521	2.589000	0.87451	0.655000	0.94253	CCT		0.433	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		102	364	1	0	9.4957e-49	1	1.17268e-48	102	364				
ADIPOR1	51094	broad.mit.edu	37	1	202915651	202915651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202915651G>A	ENST00000340990.5	-	4	644	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	116					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGCATGGGAGGTCTATGACCA	0.502																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(346-348)Cct>Tct		adiponectin receptor 1							218.0	171.0	187.0					1																	202915651		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202915651G>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.346C>T	1.37:g.202915651G>A	ENSP00000341785:p.Pro116Ser					ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S	p.P116S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		4	644	-			116					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.346C>T	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928091	0.92389	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96934	0.9683	10	0.38643	T	0.18	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	116	Q96A54	ADR1_HUMAN	S	116	ENSP00000341785:P116S;ENSP00000395469:P116S;ENSP00000402178:P116S;ENSP00000356223:P116S;ENSP00000392946:P116S	ENSP00000341785:P116S	P	-	1	0	ADIPOR1	201182274	1.000000	0.71417	0.127000	0.21898	0.796000	0.44982	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCT		0.502	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		124	356	0	0	0	1	0	124	356				
F12	2161	broad.mit.edu	37	5	176830605	176830605	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176830605C>A	ENST00000253496.3	-	11	1312	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	PFN3_ENST00000358571.2_5'Flank|F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	422	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	ACCGTCAGATCCTCGGGTGCG	0.692									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(1264-1266)Gat>Tat		coagulation factor XII (Hageman factor)							14.0	17.0	16.0					5																	176830605		2189	4278	6467	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176830605C>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1264G>T	5.37:g.176830605C>A	ENSP00000253496:p.Asp422Tyr						p.D422Y	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1312	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	422			Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1264G>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844716	0.32606	.	.	ENSG00000131187	ENST00000253496	D	0.89810	-2.57	5.58	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.996761	0.08126	N	0.993933	D	0.82724	0.5099	L	0.35414	1.06	0.80722	D	1	P	0.49253	0.921	B	0.41440	0.357	T	0.78362	-0.2233	10	0.54805	T	0.06	.	6.8453	0.23984	0.0:0.5317:0.3722:0.096	.	422	P00748	FA12_HUMAN	Y	422	ENSP00000253496:D422Y	ENSP00000253496:D422Y	D	-	1	0	F12	176763211	0.426000	0.25506	0.991000	0.47740	0.135000	0.20990	0.288000	0.18939	1.334000	0.45468	0.491000	0.48974	GAT		0.692	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			34	103	1	0	1.99505e-19	1	2.22584e-19	34	103				
DIS3L	115752	broad.mit.edu	37	15	66607510	66607510	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66607510C>T	ENST00000319212.4	+	7	1001	c.951C>T	c.(949-951)gaC>gaT	p.D317D	DIS3L_ENST00000319194.5_Silent_p.D234D|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Silent_p.D183D	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	317					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGACTGTGACGACAAGGCTT	0.498																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(700-702)gaC>gaT		DIS3 mitotic control homolog (S. cerevisiae)-like							113.0	103.0	106.0					15																	66607510		2201	4299	6500	SO:0001819	synonymous_variant	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66607510C>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.951C>T	15.37:g.66607510C>T						DIS3L_ENST00000441424.2_Silent_p.D183D|DIS3L_ENST00000319212.4_Silent_p.D317D|RP11-352G18.2_ENST00000565993.1_RNA	p.D234D	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			7	963	+			317					Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	c.702C>T	CCDS45286.1																																																																																				0.498	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		9	365	0	0	0	1	0	9	365				
OR14A16	284532	broad.mit.edu	37	1	247978167	247978167	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978167A>C	ENST00000357627.1	-	1	864	c.865T>G	c.(865-867)Ttg>Gtg	p.L289V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTGTTTCTCAAACTGTATATA	0.393																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(865-867)Ttg>Gtg		olfactory receptor, family 14, subfamily A, member 16							61.0	60.0	60.0					1																	247978167		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978167A>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.865T>G	1.37:g.247978167A>C	ENSP00000350248:p.Leu289Val						p.L289V	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	864	-			289					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.865T>G	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258888	0.39896	.	.	ENSG00000196772	ENST00000357627	T	0.46451	0.87	3.69	-1.01	0.10169	.	0.462575	0.15624	U	0.252752	T	0.72415	0.3457	H	0.97983	4.12	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.63111	-0.6710	10	0.66056	D	0.02	.	9.6549	0.39919	0.543:0.0:0.457:0.0	.	289	Q8NHC5	O14AG_HUMAN	V	289	ENSP00000350248:L289V	ENSP00000350248:L289V	L	-	1	2	OR14A16	246044790	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.549000	0.06041	-0.123000	0.11745	-0.344000	0.07964	TTG		0.393	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		44	224	0	0	0	1	0	44	224				
B4GALNT4	338707	broad.mit.edu	37	11	375875	375875	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:375875G>T	ENST00000329962.6	+	11	1014	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	338					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGCCTGGAGAACGTGCTGG	0.682																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1012-1014)gaG>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 4							37.0	29.0	32.0					11																	375875		2189	4294	6483	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:375875G>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1014G>T	11.37:g.375875G>T	ENSP00000328277:p.Glu338Asp						p.E338D	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1014	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	338					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.1014G>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	13.17	2.158463	0.38119	.	.	ENSG00000182272	ENST00000329962	T	0.73897	-0.79	3.61	2.69	0.31865	.	0.912273	0.09321	N	0.818214	T	0.67915	0.2944	L	0.58101	1.795	0.39391	D	0.966419	B	0.27351	0.176	B	0.22386	0.039	T	0.63116	-0.6709	10	0.44086	T	0.13	-35.4561	7.1343	0.25519	0.0955:0.173:0.7315:0.0	.	338	Q76KP1	B4GN4_HUMAN	D	338	ENSP00000328277:E338D	ENSP00000328277:E338D	E	+	3	2	B4GALNT4	365875	1.000000	0.71417	0.758000	0.31321	0.632000	0.37999	3.133000	0.50531	0.852000	0.35287	0.491000	0.48974	GAG		0.682	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		25	100	1	0	2.27525e-19	1	2.53767e-19	25	100				
ORC4	5000	broad.mit.edu	37	2	148705663	148705663	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148705663A>C	ENST00000392857.5	-	9	826	c.719T>G	c.(718-720)tTt>tGt	p.F240C	ORC4_ENST00000392858.1_Missense_Mutation_p.F240C|ORC4_ENST00000535373.1_Missense_Mutation_p.F240C|ORC4_ENST00000542387.1_Missense_Mutation_p.F23C|ORC4_ENST00000536575.1_Missense_Mutation_p.F156C|ORC4_ENST00000264169.2_Missense_Mutation_p.F240C|ORC4_ENST00000540442.1_Missense_Mutation_p.F166C	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	240					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTTGTCTGGAAACTCTGCAGG	0.323																																						ENST00000535373.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(718-720)tTt>tGt		origin recognition complex, subunit 4							60.0	68.0	66.0					2																	148705663		2203	4295	6498	SO:0001583	missense	5000				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	g.chr2:148705663A>C	AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.719T>G	2.37:g.148705663A>C	ENSP00000376597:p.Phe240Cys					ORC4_ENST00000392857.4_Missense_Mutation_p.F240C|ORC4_ENST00000264169.2_Missense_Mutation_p.F240C|ORC4_ENST00000536575.1_Missense_Mutation_p.F156C|ORC4_ENST00000392858.1_Missense_Mutation_p.F240C|ORC4_ENST00000540442.1_Missense_Mutation_p.F166C|ORC4_ENST00000542387.1_Missense_Mutation_p.F23C	p.F240C	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN			10	1151	-			240					B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	c.719T>G	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118094	0.77323	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.985;0.985	D	0.87781	0.2612	10	0.35671	T	0.21	-18.5534	16.214	0.82191	1.0:0.0:0.0:0.0	.	240;240;240	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	C	240;240;240;166;156;240;23	ENSP00000264169:F240C;ENSP00000441953:F240C;ENSP00000376598:F240C;ENSP00000438326:F166C;ENSP00000441502:F156C;ENSP00000376597:F240C;ENSP00000437440:F23C	ENSP00000264169:F240C	F	-	2	0	ORC4	148422133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.737000	0.91562	2.224000	0.72417	0.528000	0.53228	TTT		0.323	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		55	325	0	0	0	1	0	55	325				
SLC19A2	10560	broad.mit.edu	37	1	169446393	169446393	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169446393C>T	ENST00000236137.5	-	2	1043	c.807G>A	c.(805-807)ccG>ccA	p.P269P	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	269					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CTGAGCTTACCGGTTCCTCCA	0.468																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.e2+1		solute carrier family 19 (thiamine transporter), member 2							86.0	92.0	90.0					1																	169446393		2202	4300	6502	SO:0001630	splice_region_variant	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169446393C>T	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.807+1G>A	1.37:g.169446393C>T						SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron	p.P269_splice	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			2	1043	-	all_hematologic(923;0.208)		269					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Splice_Site	SNP	ENST00000236137.5	37	c.807_splice	CCDS1280.1																																																																																				0.468	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996	Silent	23	712	0	0	0	1	0	23	712				
CIB1	10519	broad.mit.edu	37	15	90774380	90774380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774380C>A	ENST00000328649.6	-	5	573	c.412G>T	c.(412-414)Gag>Tag	p.E138*	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	138	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCGCCCTCTCCCGTGAGG	0.582																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(412-414)Gag>Tag		calcium and integrin binding 1 (calmyrin)							86.0	86.0	86.0					15																	90774380		2199	4298	6497	SO:0001587	stop_gained	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90774380C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.412G>T	15.37:g.90774380C>A	ENSP00000333873:p.Glu138*						p.E138*	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		5	573	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		138			EF-hand 1.		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Nonsense_Mutation	SNP	ENST00000328649.6	37	c.412G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246815	0.80024	.	.	ENSG00000185043	ENST00000328649	.	.	.	5.44	3.53	0.40419	.	0.337042	0.33496	N	0.004852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-20.3041	9.9796	0.41806	0.0:0.6325:0.2911:0.0764	.	.	.	.	X	138	.	ENSP00000333873:E138X	E	-	1	0	CIB1	88575384	0.996000	0.38824	0.944000	0.38274	0.348000	0.29142	3.252000	0.51461	1.284000	0.44531	0.655000	0.94253	GAG		0.582	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			51	370	1	0	6.4308e-24	1	7.32928e-24	51	370				
GTPBP3	84705	broad.mit.edu	37	19	17450356	17450356	+	Missense_Mutation	SNP	C	C	T	rs151131704		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17450356C>T	ENST00000324894.8	+	7	990	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	308	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGCTGGGTTGCGGGAGGGCGT	0.716																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(922-924)Cgg>Tgg		GTP binding protein 3 (mitochondrial)		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	29.0	28.0	28.0		922,988,922,1018	3.9	1.0	19	dbSNP_134	28	1,8593		0,1,4296	no	missense,missense,missense,missense	GTPBP3	NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3	101,101,101,101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	308/472,330/515,308/493,340/525	17450356	1,12995	2201	4297	6498	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17450356C>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.922C>T	19.37:g.17450356C>T	ENSP00000313818:p.Arg308Trp					GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W	p.R308W	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			7	990	+			308					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.922C>T	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.209797	0.79240	0.0	1.16E-4	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.18016	2.24;2.24;2.24	4.95	3.92	0.45320	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.057107	0.64402	D	0.000001	T	0.56920	0.2018	H	0.98577	4.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.998	T	0.71477	-0.4581	10	0.87932	D	0	-20.3885	11.2894	0.49241	0.0:0.909:0.0:0.091	.	330;308;308;340	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	W	330;308;340	ENSP00000354598:R330W;ENSP00000313818:R308W;ENSP00000351644:R340W	ENSP00000313818:R308W	R	+	1	2	GTPBP3	17311356	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.348000	0.44045	1.217000	0.43442	0.491000	0.48974	CGG		0.716	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		57	237	0	0	0	1	0	57	237				
ARHGAP35	2909	broad.mit.edu	37	19	47423229	47423229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47423229C>T	ENST00000404338.3	+	1	1297	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	433	FF 3.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R433*(2)									AGTTGAGATGCGAAGGGCGTT	0.463																																						ENST00000404338.3																			2	Substitution - Nonsense(2)	p.R433*(2)	endometrium(2)								c.(1297-1299)Cga>Tga		Rho GTPase activating protein 35							84.0	80.0	82.0					19																	47423229		1886	4099	5985	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423229C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1297C>T	19.37:g.47423229C>T	ENSP00000385720:p.Arg433*						p.R433*	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	1297	+			433			FF 3.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.1297C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011903	0.93346	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	6.03	-3.54	0.04653	.	0.091446	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.3658	20.4143	0.99026	0.3296:0.6704:0.0:0.0	.	.	.	.	X	433	.	ENSP00000324820:R433X	R	+	1	2	ARHGAP35	52115069	0.844000	0.29557	0.729000	0.30791	0.897000	0.52465	0.082000	0.14847	-0.494000	0.06669	-0.262000	0.10625	CGA		0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		79	366	0	0	0	1	0	79	366				
SLC27A5	10998	broad.mit.edu	37	19	59012709	59012709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59012709C>T	ENST00000263093.2	-	4	1235	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	376					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCACTGTCACGCCATGCTGC	0.557																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1126-1128)Gtg>Atg		solute carrier family 27 (fatty acid transporter), member 5							106.0	104.0	105.0					19																	59012709		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59012709C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1126G>A	19.37:g.59012709C>T	ENSP00000263093:p.Val376Met					SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M	p.V376M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1235	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	376					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1126G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899941	0.72754	.	.	ENSG00000083807	ENST00000263093	T	0.51071	0.72	4.9	4.9	0.64082	AMP-dependent synthetase/ligase (1);	0.073155	0.53938	D	0.000046	T	0.73353	0.3576	M	0.90759	3.145	0.38129	D	0.938098	D	0.89917	1.0	D	0.87578	0.998	T	0.81406	-0.0947	10	0.87932	D	0	-29.8733	13.9553	0.64144	0.0:1.0:0.0:0.0	.	376	Q9Y2P5	S27A5_HUMAN	M	376	ENSP00000263093:V376M	ENSP00000263093:V376M	V	-	1	0	SLC27A5	63704521	0.992000	0.36948	0.943000	0.38184	0.778000	0.44026	3.066000	0.50002	2.443000	0.82685	0.563000	0.77884	GTG		0.557	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		125	509	0	0	0	1	0	125	509				
LIN54	132660	broad.mit.edu	37	4	83861050	83861050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83861050C>T	ENST00000340417.3	-	6	1611	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I	LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	412					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTTGTTTGACAGCCTGAGCT	0.343																																						ENST00000340417.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(1234-1236)Gtc>Atc		lin-54 homolog (C. elegans)							130.0	139.0	136.0					4																	83861050		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83861050C>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1234G>A	4.37:g.83861050C>T	ENSP00000341947:p.Val412Ile					LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I	p.V412I	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			6	1611	-		Hepatocellular(203;0.114)	412					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1234G>A	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023735	0.54683	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	6.08	6.08	0.98989	.	0.130770	0.56097	D	0.000021	T	0.40743	0.1129	N	0.08118	0	0.80722	D	1	B;B;B	0.29862	0.023;0.012;0.259	B;B;B	0.22386	0.012;0.004;0.039	T	0.25502	-1.0130	9	0.35671	T	0.21	-13.0846	20.6721	0.99693	0.0:1.0:0.0:0.0	.	323;284;412	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	I	412;323;191;191;191;323;412	.	ENSP00000341947:V412I	V	-	1	0	LIN54	84080074	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.576000	0.60915	2.894000	0.99253	0.591000	0.81541	GTC		0.343	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		143	552	0	0	0	1	0	143	552				
NHLRC2	374354	broad.mit.edu	37	10	115636517	115636517	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115636517A>G	ENST00000369301.3	+	3	781	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	190	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.									breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTATTTTTATATACTTCAATT	0.353																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(568-570)tAt>tGt		NHL repeat containing 2							54.0	59.0	57.0					10																	115636517		2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115636517A>G	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.569A>G	10.37:g.115636517A>G	ENSP00000358307:p.Tyr190Cys						p.Y190C	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	3	781	+			190			Thioredoxin.		Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.569A>G	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359605	0.61403	.	.	ENSG00000196865	ENST00000369301	T	0.46063	0.88	5.61	2.91	0.33838	Thioredoxin-like fold (2);	0.057252	0.64402	D	0.000001	T	0.39489	0.1080	L	0.41492	1.28	0.43819	D	0.996381	D	0.62365	0.991	P	0.50231	0.635	T	0.16689	-1.0394	10	0.46703	T	0.11	-11.2129	8.6969	0.34301	0.5125:0.0:0.0:0.4875	.	190	Q8NBF2	NHLC2_HUMAN	C	190	ENSP00000358307:Y190C	ENSP00000358307:Y190C	Y	+	2	0	NHLRC2	115626507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.301000	0.65727	1.032000	0.39892	-0.341000	0.08007	TAT		0.353	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		91	357	0	0	0	1	0	91	357				
ACSS1	84532	broad.mit.edu	37	20	25003612	25003612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25003612C>T	ENST00000323482.4	-	5	1003	c.924G>A	c.(922-924)caG>caA	p.Q308Q	ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000537502.1_Silent_p.Q225Q	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	308					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTAGCCTGCCTGGGTATGGA	0.637																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(673-675)caG>caA		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						74.0	56.0	62.0					20																	25003612		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25003612C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.924G>A	20.37:g.25003612C>T						ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000323482.4_Silent_p.Q308Q	p.Q225Q			Q9NUB1	ACS2L_HUMAN			3	2206	-			308					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.675G>A	CCDS13167.1																																																																																				0.637	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		16	148	0	0	0	1	0	16	148				
CCDC132	55610	broad.mit.edu	37	7	92963455	92963455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92963455T>C	ENST00000305866.5	+	22	2132	c.2004T>C	c.(2002-2004)agT>agC	p.S668S	CCDC132_ENST00000544910.1_Silent_p.S638S|CCDC132_ENST00000541136.1_Silent_p.S479S|CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	668						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGGCCTTAGTAGTAGTAGAC	0.313																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1912-1914)agT>agC		coiled-coil domain containing 132							149.0	146.0	147.0					7																	92963455		1815	4070	5885	SO:0001819	synonymous_variant	55610							g.chr7:92963455T>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2004T>C	7.37:g.92963455T>C						CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000305866.5_Silent_p.S668S|CCDC132_ENST00000541136.1_Silent_p.S479S	p.S638S	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		23	2134	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		668					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.1914T>C	CCDS43617.1																																																																																				0.313	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		136	512	0	0	0	1	0	136	512				
FAM78B	149297	broad.mit.edu	37	1	166039800	166039800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039800C>T	ENST00000338353.3	-	3	1053	c.464G>A	c.(463-465)aGc>aAc	p.S155N	FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGCACATTGCTGTCACTCAC	0.527																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(463-465)aGc>aAc		family with sequence similarity 78, member B							224.0	195.0	205.0					1																	166039800		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039800C>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.464G>A	1.37:g.166039800C>T	ENSP00000339681:p.Ser155Asn					FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N	p.S155N			Q5VT40	FA78B_HUMAN			3	1053	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		155					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.464G>A	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808974	0.31961	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.84	4.93	0.64822	.	0.115191	0.85682	N	0.000000	T	0.33673	0.0871	L	0.59436	1.845	0.47183	D	0.999346	B	0.12013	0.005	B	0.08055	0.003	T	0.23726	-1.0180	8	0.16896	T	0.51	-15.4965	12.9119	0.58184	0.0:0.9216:0.0:0.0784	.	155	Q5VT40	FA78B_HUMAN	N	155	.	ENSP00000339681:S155N	S	-	2	0	FAM78B	164306424	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.999000	0.57031	1.472000	0.48140	-0.150000	0.13652	AGC		0.527	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		244	683	0	0	0	1	0	244	683				
DUSP27	92235	broad.mit.edu	37	1	167097083	167097083	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097083G>T	ENST00000361200.2	+	6	2881	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	905	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTAATTCCCAGAAACCTGAAA	0.493																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2713-2715)caG>caT		dual specificity phosphatase 27 (putative)							87.0	77.0	80.0					1																	167097083		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097083G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2715G>T	1.37:g.167097083G>T	ENSP00000354483:p.Gln905His					DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H	p.Q905H			Q5VZP5	DUS27_HUMAN			6	2881	+			905			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2715G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589602	0.13812	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.25	-5.41	0.02648	.	1.287870	0.05395	N	0.539668	T	0.00906	0.0030	L	0.36672	1.1	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.49570	-0.8926	10	0.41790	T	0.15	-6.6321	3.444	0.07474	0.1444:0.1986:0.4558:0.2012	.	905	Q5VZP5	DUS27_HUMAN	H	905	ENSP00000354483:Q905H;ENSP00000271385:Q905H;ENSP00000404874:Q905H	ENSP00000271385:Q905H	Q	+	3	2	DUSP27	165363707	0.001000	0.12720	0.965000	0.40720	0.765000	0.43378	-1.289000	0.02780	-0.532000	0.06332	-0.323000	0.08544	CAG		0.493	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		54	188	1	0	2.76378e-25	1	3.16915e-25	54	188				
SORCS3	22986	broad.mit.edu	37	10	106959834	106959834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106959834G>A	ENST00000369701.3	+	15	2314	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	696					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCGGCATTGCACCAAGGAG	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2086-2088)tGc>tAc		sortilin-related VPS10 domain containing receptor 3							130.0	118.0	122.0					10																	106959834		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106959834G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2087G>A	10.37:g.106959834G>A	ENSP00000358715:p.Cys696Tyr					SORCS3_ENST00000369699.4_5'UTR	p.C696Y	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	15	2314	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	696					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2087G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889213	0.91889	.	.	ENSG00000156395	ENST00000369701	T	0.44482	0.92	6.07	6.07	0.98685	VPS10 (1);	0.096778	0.64402	D	0.000001	T	0.75428	0.3848	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.80341	-0.1423	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	696	Q9UPU3	SORC3_HUMAN	Y	696	ENSP00000358715:C696Y	.	C	+	2	0	SORCS3	106949824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.388000	0.97237	2.890000	0.99128	0.650000	0.86243	TGC		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		97	433	0	0	0	1	0	97	433				
NLRP8	126205	broad.mit.edu	37	19	56477586	56477586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56477586C>T	ENST00000291971.3	+	5	2292	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	741					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGCCTAAGGCGTGTGAATAG	0.517																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2221-2223)Cgt>Tgt		NLR family, pyrin domain containing 8							168.0	147.0	154.0					19																	56477586		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56477586C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2221C>T	19.37:g.56477586C>T	ENSP00000291971:p.Arg741Cys					NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	p.R741C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	5	2292	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	741					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2221C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005020	0.07773	.	.	ENSG00000179709	ENST00000291971	T	0.74526	-0.85	1.82	0.719	0.18208	.	.	.	.	.	T	0.62901	0.2466	L	0.46741	1.465	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.15484	0.013;0.001	T	0.51132	-0.8744	9	0.37606	T	0.19	.	5.4535	0.16578	0.3284:0.6716:0.0:0.0	.	741;741	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	741	ENSP00000291971:R741C	ENSP00000291971:R741C	R	+	1	0	NLRP8	61169398	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.131000	0.10482	0.296000	0.22592	0.557000	0.71058	CGT		0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		97	482	0	0	0	1	0	97	482				
SNX33	257364	broad.mit.edu	37	15	75942240	75942240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942240G>A	ENST00000308527.5	+	1	1994	c.797G>A	c.(796-798)cGc>cAc	p.R266H	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	266	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.R266H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTCTACCGGCGCTACAAACAC	0.552																																						ENST00000308527.5																			1	Substitution - Missense(1)	p.R266H(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(796-798)cGc>cAc		sorting nexin 33							147.0	136.0	140.0					15																	75942240		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942240G>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.797G>A	15.37:g.75942240G>A	ENSP00000311427:p.Arg266His						p.R266H	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1994	+			266			PX.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.797G>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448401	0.43429	.	.	ENSG00000173548	ENST00000308527	T	0.55052	0.54	5.42	5.42	0.78866	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83394	0.5245	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89689	0.3896	10	0.87932	D	0	-7.8478	17.7863	0.88539	0.0:0.0:1.0:0.0	.	266	Q8WV41	SNX33_HUMAN	H	266	ENSP00000311427:R266H	ENSP00000311427:R266H	R	+	2	0	SNX33	73729295	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.867000	0.99620	2.543000	0.85770	0.561000	0.74099	CGC		0.552	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		19	936	0	0	0	1	0	19	936				
RAPGEF6	51735	broad.mit.edu	37	5	130928115	130928115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130928115G>A	ENST00000509018.1	-	4	447	c.242C>T	c.(241-243)tCt>tTt	p.S81F	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S131F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	81					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACAAGCACAGATCCAGAAAG	0.353																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(241-243)tCt>tTt		Rap guanine nucleotide exchange factor (GEF) 6							108.0	90.0	96.0					5																	130928115		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130928115G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.242C>T	5.37:g.130928115G>A	ENSP00000421684:p.Ser81Phe					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S131F	p.S81F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	4	447	-			81					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.242C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163123	0.78226	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000011	T	0.50973	0.1647	M	0.83384	2.64	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	0.91635	0.998;0.998;0.999;0.998;0.999;0.972	T	0.59172	-0.7504	10	0.87932	D	0	.	16.8241	0.85926	0.0:0.0:1.0:0.0	.	81;81;81;131;81;81	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	F	81;81;81;81;81;81;81;131	ENSP00000421684:S81F;ENSP00000309298:S81F;ENSP00000426081:S81F;ENSP00000296859:S81F;ENSP00000311419:S81F;ENSP00000425389:S81F;ENSP00000426948:S131F	ENSP00000426948:S131F	S	-	2	0	RAPGEF6;FNIP1	130956014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.920000	0.70017	2.317000	0.78254	0.563000	0.77884	TCT		0.353	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		26	183	0	0	0	1	0	26	183				
TIE1	7075	broad.mit.edu	37	1	43774659	43774659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43774659C>T	ENST00000372476.3	+	8	1124	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	349					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCCCAGACCGGATCCCCCA	0.587																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1045-1047)Cgg>Tgg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							73.0	61.0	65.0					1																	43774659		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43774659C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1045C>T	1.37:g.43774659C>T	ENSP00000361554:p.Arg349Trp					TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_5'UTR	p.R349W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			8	1124	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	349					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1045C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941063	0.53079	.	.	ENSG00000066056	ENST00000372476	T	0.79033	-1.23	4.6	4.6	0.57074	.	0.000000	0.36374	N	0.002635	T	0.68063	0.2960	L	0.46157	1.445	0.80722	D	1	B;B;B	0.27498	0.032;0.18;0.107	B;B;B	0.14578	0.003;0.011;0.007	T	0.65615	-0.6125	10	0.33940	T	0.23	.	11.1624	0.48522	0.0:0.916:0.0:0.084	.	304;349;349	B4DTW8;B5A952;P35590	.;.;TIE1_HUMAN	W	349	ENSP00000361554:R349W	ENSP00000361554:R349W	R	+	1	2	TIE1	43547246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	2.396000	0.81511	0.563000	0.77884	CGG		0.587	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		70	260	0	0	0	1	0	70	260				
MAP2K6	5608	broad.mit.edu	37	17	67522730	67522730	+	Missense_Mutation	SNP	G	G	A	rs146595343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67522730G>A	ENST00000590474.1	+	10	1048	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R254L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCCATCCTTCGATTTCCCTAT	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18748	0.0		0.0	False		,,,				2504	0.0					ENST00000590474.1																			1	Substitution - Missense(1)	p.R254L(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(760-762)cGa>cAa		mitogen-activated protein kinase kinase 6		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	100.0	101.0	100.0		761	6.2	1.0	17	dbSNP_134	100	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MAP2K6	NM_002758.3	43	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	benign	254/335	67522730	6,13000	2203	4300	6503	SO:0001583	missense	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67522730G>A	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.761G>A	17.37:g.67522730G>A	ENSP00000468348:p.Arg254Gln					MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	p.R254Q	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			10	1048	+	Breast(10;6.05e-10)		254			Protein kinase.			Missense_Mutation	SNP	ENST00000590474.1	37	c.761G>A	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453096	0.63290	4.54E-4	4.65E-4	ENSG00000108984	ENST00000359094	.	.	.	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061266	0.64402	D	0.000007	T	0.44623	0.1302	N	0.13168	0.305	0.49483	D	0.999798	P	0.43826	0.818	P	0.45310	0.476	T	0.22626	-1.0211	8	.	.	.	-17.1079	19.4236	0.94732	0.0:0.0:1.0:0.0	.	254	P52564	MP2K6_HUMAN	Q	254	.	.	R	+	2	0	MAP2K6	65034325	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.365000	0.52335	2.937000	0.99478	0.650000	0.86243	CGA		0.463	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		86	372	0	0	0	1	0	86	372				
MAN2A1	4124	broad.mit.edu	37	5	109156033	109156033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109156033G>T	ENST00000261483.4	+	15	3493	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	814					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTACCTGATGGTAATGCCAAG	0.343																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2440-2442)gGt>gTt		mannosidase, alpha, class 2A, member 1							91.0	89.0	90.0					5																	109156033		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109156033G>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2441G>T	5.37:g.109156033G>T	ENSP00000261483:p.Gly814Val						p.G814V	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	15	3493	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	814					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2441G>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677093	0.68042	.	.	ENSG00000112893	ENST00000261483	D	0.82081	-1.57	5.97	5.97	0.96955	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.356317	0.33272	N	0.005098	D	0.93406	0.7897	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93821	0.7119	10	0.72032	D	0.01	-12.4663	20.0338	0.97549	0.0:0.0:1.0:0.0	.	814	Q16706	MA2A1_HUMAN	V	814	ENSP00000261483:G814V	ENSP00000261483:G814V	G	+	2	0	MAN2A1	109183932	1.000000	0.71417	0.960000	0.40013	0.574000	0.36063	5.563000	0.67352	2.836000	0.97738	0.655000	0.94253	GGT		0.343	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			49	191	1	0	2.11614e-10	1	2.24326e-10	49	191				
TSC2	7249	broad.mit.edu	37	16	2130329	2130329	+	Silent	SNP	G	G	A	rs137854121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130329G>A	ENST00000219476.3	+	30	4191	c.3561G>A	c.(3559-3561)gtG>gtA	p.V1187V	TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000568454.1_Silent_p.V1154V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000353929.4_Silent_p.V1144V|TSC2_ENST00000439673.2_Silent_p.V1107V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1187					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGCCTATGTGCCCCTGCTGA	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3559-3561)gtG>gtA		tuberous sclerosis 2							48.0	54.0	52.0					16																	2130329		2198	4298	6496	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2130329G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3561G>A	16.37:g.2130329G>A						TSC2_ENST00000439673.2_Silent_p.V1107V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000353929.4_Silent_p.V1144V|TSC2_ENST00000568454.1_Silent_p.V1154V	p.V1187V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			30	4191	+		Hepatocellular(780;0.0202)	1187					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.3561G>A	CCDS10458.1																																																																																				0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		103	451	0	0	0	1	0	103	451				
TAOK2	9344	broad.mit.edu	37	16	29998237	29998237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998237G>A	ENST00000308893.4	+	16	3687	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	882	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGTCTTCTGGATGAGGAGTT	0.612																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2644-2646)Gat>Aat		TAO kinase 2							88.0	87.0	87.0					16																	29998237		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998237G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2644G>A	16.37:g.29998237G>A	ENSP00000310094:p.Asp882Asn					TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N|TAOK2_ENST00000279394.3_Intron	p.D882N	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3687	+			882			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.2644G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481917	0.44147	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.73152	-0.67;-0.72	5.32	4.37	0.52481	.	1.132340	0.06700	N	0.771279	T	0.51550	0.1681	N	0.08118	0	0.25522	N	0.987355	B;B;B	0.27498	0.18;0.0;0.18	B;B;B	0.21546	0.035;0.002;0.035	T	0.36578	-0.9742	9	.	.	.	.	11.0008	0.47604	0.0882:0.0:0.9118:0.0	.	1073;709;882	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	N	882;769	ENSP00000310094:D882N;ENSP00000440336:D769N	.	D	+	1	0	TAOK2	29905738	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	3.753000	0.55180	1.258000	0.44101	0.563000	0.77884	GAT		0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		69	241	0	0	0	1	0	69	241				
SETD5	55209	broad.mit.edu	37	3	9486952	9486952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9486952C>T	ENST00000406341.1	+	11	1598	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000402466.1_Missense_Mutation_p.P372S|SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000407969.1_Missense_Mutation_p.P489S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	470										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAAGAAGTTCCAGAAAAAGT	0.468																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1114-1116)Cca>Tca		SET domain containing 5							56.0	58.0	57.0					3																	9486952		1936	4159	6095	SO:0001583	missense	55209							g.chr3:9486952C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1408C>T	3.37:g.9486952C>T	ENSP00000383939:p.Pro470Ser					SETD5_ENST00000407969.1_Missense_Mutation_p.P489S|SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000406341.1_Missense_Mutation_p.P470S	p.P372S			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	13	1882	+	Medulloblastoma(99;0.227)		470			SET.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1114C>T	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.184905|3.184905	0.57909|0.57909	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	D;D;D;D;D|.	0.92647|.	-2.76;-3.08;-2.76;-2.75;-3.08|.	5.63|5.63	4.74|4.74	0.60224|0.60224	.|.	0.113194|.	0.64402|.	D|.	0.000010|.	T|T	0.70631|0.70631	0.3246|0.3246	L|L	0.59436|0.59436	1.845|1.845	0.41185|0.41185	D|D	0.986264|0.986264	B;B;B;B;B|.	0.23377|.	0.009;0.003;0.005;0.084;0.0|.	B;B;B;B;B|.	0.23419|.	0.046;0.004;0.01;0.031;0.001|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.66056|.	D|.	0.02|.	-2.1099|-2.1099	16.7691|16.7691	0.85532|0.85532	0.0:0.8709:0.129:0.0|0.0:0.8709:0.129:0.0	.|.	139;372;372;470;489|.	B3KXG4;B3KRD6;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;.;SETD5_HUMAN;.|.	S|F	470;372;470;489;372|137	ENSP00000385852:P470S;ENSP00000384429:P372S;ENSP00000383939:P470S;ENSP00000384114:P489S;ENSP00000302028:P372S|.	ENSP00000302028:P372S|.	P|S	+|+	1|2	0|0	SETD5|SETD5	9461952|9461952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	1.249000|1.249000	0.32839|0.32839	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		22	58	0	0	0	1	0	22	58				
GRIN3A	116443	broad.mit.edu	37	9	104449311	104449311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104449311G>T	ENST00000361820.3	-	2	1471	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	291					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATAGAACCAAGGTGGAACTTG	0.483																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(871-873)Ctt>Att		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						148.0	132.0	138.0					9																	104449311		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104449311G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.871C>A	9.37:g.104449311G>T	ENSP00000355155:p.Leu291Ile						p.L291I	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1471	-		Acute lymphoblastic leukemia(62;0.0568)	291					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.871C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238174	0.58886	.	.	ENSG00000198785	ENST00000361820	T	0.12147	2.71	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.15782	0.0380	L	0.59436	1.845	0.52501	D	0.999952	B	0.29988	0.264	B	0.28011	0.085	T	0.02958	-1.1089	10	0.23891	T	0.37	.	14.2897	0.66268	0.0706:0.0:0.9294:0.0	.	291	Q8TCU5	NMD3A_HUMAN	I	291	ENSP00000355155:L291I	ENSP00000355155:L291I	L	-	1	0	GRIN3A	103489132	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	2.603000	0.46266	2.759000	0.94783	0.557000	0.71058	CTT		0.483	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			63	402	1	0	4.73848e-44	1	5.79357e-44	63	402				
NSD1	64324	broad.mit.edu	37	5	176639155	176639155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176639155G>A	ENST00000439151.2	+	5	3800	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	NSD1_ENST00000354179.4_Missense_Mutation_p.G983E|NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E|NSD1_ENST00000347982.4_Missense_Mutation_p.G983E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1252					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGGAGCCAGGAATTCCCAGT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3754-3756)gGa>gAa		nuclear receptor binding SET domain protein 1							41.0	44.0	43.0					5																	176639155		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176639155G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3755G>A	5.37:g.176639155G>A	ENSP00000395929:p.Gly1252Glu	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.G983E|NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E|NSD1_ENST00000347982.4_Missense_Mutation_p.G983E	p.G1252E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3800	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1252					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3755G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441657	0.63067	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93712	-3.16;-3.16;-3.16;-3.27	4.68	2.86	0.33363	.	0.316419	0.22860	N	0.054747	D	0.90393	0.6993	N	0.24115	0.695	0.31661	N	0.645574	D;D;D	0.56287	0.975;0.975;0.958	P;P;P	0.56343	0.741;0.796;0.555	D	0.87578	0.2482	10	0.39692	T	0.17	.	6.6042	0.22716	0.092:0.0:0.7293:0.1787	.	983;1149;1252	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	E	983;1252;983;1149	ENSP00000346111:G983E;ENSP00000395929:G1252E;ENSP00000343209:G983E;ENSP00000354310:G1149E	ENSP00000343209:G983E	G	+	2	0	NSD1	176571761	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.821000	0.27338	0.685000	0.31468	0.655000	0.94253	GGA		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		17	213	0	0	0	1	0	17	213				
MAML1	9794	broad.mit.edu	37	5	179192579	179192579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179192579C>T	ENST00000292599.3	+	2	831	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACAAAAAGCGTCTGGCTGA	0.557																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(568-570)Cgt>Tgt		mastermind-like 1 (Drosophila)							36.0	39.0	38.0					5																	179192579		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192579C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.568C>T	5.37:g.179192579C>T	ENSP00000292599:p.Arg190Cys					MAML1_ENST00000503050.1_3'UTR	p.R190C	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	831	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	190						Missense_Mutation	SNP	ENST00000292599.3	37	c.568C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366053	0.11352	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.40756	1.02	4.9	-0.496	0.12027	.	0.143880	0.49305	N	0.000144	T	0.09818	0.0241	N	0.00521	-1.4	0.30173	N	0.801095	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12344	-1.0551	10	0.35671	T	0.21	-0.4315	2.387	0.04368	0.1236:0.1414:0.1289:0.6062	.	227;190	Q59GH4;Q92585	.;MAML1_HUMAN	C	190;227	ENSP00000292599:R190C	ENSP00000292599:R190C	R	+	1	0	MAML1	179125185	0.997000	0.39634	0.936000	0.37596	0.499000	0.33736	1.457000	0.35212	-0.326000	0.08564	-0.505000	0.04504	CGT		0.557	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		67	151	0	0	0	1	0	67	151				
SUV420H1	51111	broad.mit.edu	37	11	67939172	67939172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67939172G>A	ENST00000304363.4	-	7	1011	c.658C>T	c.(658-660)Cga>Tga	p.R220*	SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	220	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGTCATTTCGTTTCCTATTT	0.299																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(658-660)Cga>Tga		suppressor of variegation 4-20 homolog 1 (Drosophila)							74.0	72.0	73.0					11																	67939172		2200	4294	6494	SO:0001587	stop_gained	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67939172G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.658C>T	11.37:g.67939172G>A	ENSP00000305899:p.Arg220*					SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*	p.R220*	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			7	1011	-			220			SET.		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Nonsense_Mutation	SNP	ENST00000304363.4	37	c.658C>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371350	0.95923	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	.	.	.	5.73	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8323	15.8848	0.79238	0.0:0.0:0.864:0.136	.	.	.	.	X	220;220;220;220;197;48	.	ENSP00000305899:R220X	R	-	1	2	SUV420H1	67695748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.737000	0.68606	2.854000	0.98071	0.655000	0.94253	CGA		0.299	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		36	236	0	0	0	1	0	36	236				
BTBD16	118663	broad.mit.edu	37	10	124034607	124034607	+	Missense_Mutation	SNP	C	C	T	rs202210822	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124034607C>T	ENST00000260723.4	+	2	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_ENST00000368994.2_Missense_Mutation_p.S4L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	4										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ATGATAATGTCGAACACGGTG	0.393													C|||	2	0.000399361	0.0	0.0	5008	,	,		20447	0.001		0.001	False		,,,				2504	0.0					ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(10-12)tCg>tTg		BTB (POZ) domain containing 16							198.0	179.0	186.0					10																	124034607		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124034607C>T	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.11C>T	10.37:g.124034607C>T	ENSP00000260723:p.Ser4Leu					BTBD16_ENST00000260723.4_Missense_Mutation_p.S4L	p.S4L			Q32M84	BTBDG_HUMAN			2	262	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	4					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.11C>T	CCDS31301.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.704	0.910321	0.17833	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.19105	2.29;2.17	3.74	2.62	0.31277	.	1.302300	0.05746	N	0.602239	T	0.08268	0.0206	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	10	0.22109	T	0.4	0.0467	5.3294	0.15924	0.0:0.1349:0.0:0.8651	.	4;4	Q32M84-2;Q32M84	.;BTBDG_HUMAN	L	4	ENSP00000260723:S4L;ENSP00000357990:S4L	ENSP00000260723:S4L	S	+	2	0	BTBD16	124024597	0.007000	0.16637	0.068000	0.19968	0.001000	0.01503	0.223000	0.17719	0.797000	0.33971	-0.302000	0.09304	TCG		0.393	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		84	452	0	0	0	1	0	84	452				
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(232-234)cAg>cGg		family with sequence similarity 155, member A							21.0	27.0	25.0					13																	108518712		2172	4247	6419	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518712T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.233A>G	13.37:g.108518712T>C	ENSP00000365080:p.Gln78Arg						p.Q78R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	371	-			78			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.233A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	7.683	0.689395	0.14973	.	.	ENSG00000204442	ENST00000375915	T	0.52983	0.64	4.65	4.65	0.58169	Armadillo-like helical (1);	0.000000	0.36519	N	0.002547	T	0.52996	0.1769	L	0.42245	1.32	0.27179	N	0.960711	D	0.57899	0.981	D	0.67900	0.954	T	0.44065	-0.9352	10	0.07030	T	0.85	.	12.0726	0.53626	0.0:0.0:0.0:1.0	.	78	B1AL88	F155A_HUMAN	R	78	ENSP00000365080:Q78R	ENSP00000365080:Q78R	Q	-	2	0	FAM155A	107316713	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	1.463000	0.35277	1.745000	0.51790	0.254000	0.18369	CAG		0.677	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	428	0	0	0	1	0	7	428				
AHNAK2	113146	broad.mit.edu	37	14	105418648	105418648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105418648C>A	ENST00000333244.5	-	7	3259	c.3140G>T	c.(3139-3141)aGc>aTc	p.S1047I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1047						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGCTGAATGCTGAGGTCAGT	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3139-3141)aGc>aTc		AHNAK nucleoprotein 2							109.0	120.0	117.0					14																	105418648		1988	4147	6135	SO:0001583	missense	113146					nucleus		g.chr14:105418648C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3140G>T	14.37:g.105418648C>A	ENSP00000353114:p.Ser1047Ile					AHNAK2_ENST00000557457.1_Intron	p.S1047I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3259	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1047					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3140G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.209663	0.39003	.	.	ENSG00000185567	ENST00000333244	T	0.00922	5.54	3.68	-2.37	0.06643	.	.	.	.	.	T	0.02888	0.0086	M	0.84433	2.695	0.09310	N	1	D	0.57899	0.981	P	0.54590	0.756	T	0.14282	-1.0478	9	0.42905	T	0.14	.	5.5041	0.16844	0.0:0.2944:0.4327:0.273	.	1047	Q8IVF2	AHNK2_HUMAN	I	1047	ENSP00000353114:S1047I	ENSP00000353114:S1047I	S	-	2	0	AHNAK2	104489693	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.375000	0.20518	-0.725000	0.04901	-0.479000	0.04858	AGC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	927	1	0	3.11337e-16	1	3.41587e-16	36	927				
NDUFA11	126328	broad.mit.edu	37	19	5896970	5896970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5896970G>A	ENST00000308961.4	-	2	183	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	AC104532.3_ENST00000589277.1_RNA|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000592634.1_Missense_Mutation_p.P46S|AC024592.12_ENST00000586349.1_Missense_Mutation_p.S44F|NDUFA11_ENST00000418389.2_Missense_Mutation_p.P46S|AC104532.3_ENST00000590441.1_RNA	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	46					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(1)	2						AAGGTGCCCGGAGGATTGAGT	0.627																																						ENST00000418389.2																			0				central_nervous_system(1)|lung(1)	2						c.(136-138)Ccg>Tcg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	NADH(DB00157)						181.0	155.0	163.0					19																	5896970		2203	4300	6503	SO:0001583	missense	126328				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity	g.chr19:5896970G>A	AJ539081	CCDS12155.1, CCDS54203.1	19p13.3	2011-07-04				ENSG00000174886		"""Mitochondrial respiratory chain complex / Complex I"""	20371	protein-coding gene	gene with protein product	"""complex I B14.7 subunit"""	612638				12381726	Standard	NM_001193375		Approved	B14.7	uc002mdp.2	Q86Y39		ENST00000308961.4:c.136C>T	19.37:g.5896970G>A	ENSP00000311740:p.Pro46Ser					FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000308961.4_Missense_Mutation_p.P46S|NDUFA11_ENST00000592634.1_Missense_Mutation_p.P46S|AC024592.12_ENST00000586349.1_Missense_Mutation_p.S44F	p.P46S	NM_001193375.1	NP_001180304.1	Q86Y39	NDUAB_HUMAN			2	213	-			46					C9JT23|Q6ZS66	Missense_Mutation	SNP	ENST00000308961.4	37	c.136C>T	CCDS12155.1	.	.	.	.	.	.	.	.	.	.	G	9.076	0.998167	0.19043	.	.	ENSG00000174886	ENST00000418389;ENST00000308961	.	.	.	3.96	-3.07	0.05363	.	0.063491	0.64402	U	0.000005	T	0.40448	0.1117	M	0.72118	2.19	0.09310	N	1	B;B	0.21905	0.021;0.062	B;B	0.27170	0.021;0.077	T	0.37979	-0.9682	9	0.54805	T	0.06	.	6.2097	0.20621	0.178:0.5014:0.3205:0.0	.	46;46	Q86Y39;C9JT23	NDUAB_HUMAN;.	S	46	.	ENSP00000311740:P46S	P	-	1	0	NDUFA11	5847970	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.073000	0.14640	-0.708000	0.05015	-0.693000	0.03709	CCG		0.627	NDUFA11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452218.1	NM_175614		128	616	0	0	0	1	0	128	616				
GBAS	2631	broad.mit.edu	37	7	56051523	56051523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56051523G>A	ENST00000322090.3	+	6	576	c.547G>A	c.(547-549)Gga>Aga	p.G183R	GBAS_ENST00000446778.1_Missense_Mutation_p.G144R	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	183					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAAGATCCGGACCTAATAT	0.398																																						ENST00000322090.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(547-549)Gga>Aga		glioblastoma amplified sequence							84.0	85.0	84.0					7																	56051523		2203	4300	6503	SO:0001583	missense	2631					integral to plasma membrane|membrane fraction|mitochondrion	protein binding	g.chr7:56051523G>A	AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.547G>A	7.37:g.56051523G>A	ENSP00000313050:p.Gly183Arg					GBAS_ENST00000446778.1_Missense_Mutation_p.G144R	p.G183R	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	576	+	Breast(14;0.214)		183					C9IYJ3|O43801|Q53X96	Missense_Mutation	SNP	ENST00000322090.3	37	c.547G>A	CCDS5521.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743963	0.89663	.	.	ENSG00000146729	ENST00000446692;ENST00000322090;ENST00000446778;ENST00000437587	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.81	4.81	0.61882	Dimeric alpha-beta barrel (1);	0.254452	0.45867	D	0.000337	T	0.68714	0.3031	M	0.87456	2.885	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.61940	0.896;0.657	T	0.68671	-0.5347	10	0.20046	T	0.44	-16.0315	17.0441	0.86497	0.0:0.0:1.0:0.0	.	144;183	C9IYJ3;O75323	.;NIPS2_HUMAN	R	43;183;144;43	ENSP00000406336:G43R;ENSP00000313050:G183R;ENSP00000406855:G144R;ENSP00000401185:G43R	ENSP00000313050:G183R	G	+	1	0	GBAS	56019017	1.000000	0.71417	0.973000	0.42090	0.682000	0.39822	9.365000	0.97139	2.497000	0.84241	0.650000	0.86243	GGA		0.398	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	NM_001483		58	351	0	0	0	1	0	58	351				
LLGL1	3996	broad.mit.edu	37	17	18141066	18141066	+	Missense_Mutation	SNP	G	G	A	rs144655159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18141066G>A	ENST00000316843.4	+	14	1979	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	628				FDYQRK -> L (in Ref. 1; CAA60130). {ECO:0000305}.	axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACTACCAGCGCAAGAGCCCT	0.637																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1882-1884)cGc>cAc		lethal giant larvae homolog 1 (Drosophila)		G	HIS/ARG	0,4406		0,0,2203	42.0	33.0	36.0		1883	4.6	1.0	17	dbSNP_134	36	2,8598	2.2+/-6.3	0,2,4298	no	missense	LLGL1	NM_004140.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	628/1065	18141066	2,13004	2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18141066G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1883G>A	17.37:g.18141066G>A	ENSP00000321537:p.Arg628His						p.R628H	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			14	1979	+	all_neural(463;0.228)		628	FDYQRK -> L (in Ref. 1; CAA60130).				A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1883G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552439	0.86127	0.0	2.33E-4	ENSG00000131899	ENST00000316843	T	0.36157	1.27	5.53	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);	0.048555	0.85682	D	0.000000	T	0.52964	0.1767	L	0.55481	1.735	0.53005	D	0.999966	D	0.89917	1.0	D	0.66602	0.945	T	0.55749	-0.8092	10	0.62326	D	0.03	-30.1925	14.2074	0.65744	0.0716:0.0:0.9284:0.0	.	628	Q15334	L2GL1_HUMAN	H	628	ENSP00000321537:R628H	ENSP00000321537:R628H	R	+	2	0	LLGL1	18081791	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.464000	0.53057	1.366000	0.46076	0.561000	0.74099	CGC		0.637	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			20	206	0	0	0	1	0	20	206				
LRP1B	53353	broad.mit.edu	37	2	141747212	141747212	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141747212G>A	ENST00000389484.3	-	17	3630	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCATCAGGACAGCTATGA	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2659-2661)Cct>Tct		low density lipoprotein receptor-related protein 1B							115.0	107.0	110.0					2																	141747212		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747212G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2659C>T	2.37:g.141747212G>A	ENSP00000374135:p.Pro887Ser	TSP Lung(27;0.18)					p.P887S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	17	3630	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	887			LDL-receptor class A 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2659C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815714	0.70912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95001	-3.58	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.91399	0.7286	N	0.21508	0.67	0.52501	D	0.999958	P	0.45672	0.864	P	0.48368	0.575	D	0.87747	0.2589	10	0.02654	T	1	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	887	Q9NZR2	LRP1B_HUMAN	S	887;825	ENSP00000374135:P887S	ENSP00000374135:P887S	P	-	1	0	LRP1B	141463682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.748000	0.85085	2.840000	0.97914	0.655000	0.94253	CCT		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		38	452	0	0	0	1	0	38	452				
B3GALNT2	148789	broad.mit.edu	37	1	235647766	235647766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235647766G>A	ENST00000366600.3	-	4	655	c.427C>T	c.(427-429)Cga>Tga	p.R143*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	143					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTGACAACTCGATCCTCAGGC	0.448																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(427-429)Cga>Tga		beta-1,3-N-acetylgalactosaminyltransferase 2							182.0	175.0	177.0					1																	235647766		2203	4300	6503	SO:0001587	stop_gained	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235647766G>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.427C>T	1.37:g.235647766G>A	ENSP00000355559:p.Arg143*					B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*|B3GALNT2_ENST00000478199.1_5'UTR	p.R143*	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		4	655	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	143					Q59GR3|Q5TCI3|Q96AL7	Nonsense_Mutation	SNP	ENST00000366600.3	37	c.427C>T	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	G	37	6.163459	0.97338	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	.	.	.	4.74	4.74	0.60224	.	0.909002	0.09563	N	0.785247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8663	11.6206	0.51115	0.0:0.0:0.7763:0.2237	.	.	.	.	X	184;143;184	.	ENSP00000315678:R184X	R	-	1	2	B3GALNT2	233714389	0.992000	0.36948	0.943000	0.38184	0.574000	0.36063	2.212000	0.42835	2.582000	0.87167	0.655000	0.94253	CGA		0.448	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		244	741	0	0	0	1	0	244	741				
NAP1L1	4673	broad.mit.edu	37	12	76442238	76442238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76442238G>A	ENST00000261182.8	-	15	1633	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	383					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GCTGGGTTTTGATCCTTCTGT	0.388																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(1147-1149)Caa>Taa		nucleosome assembly protein 1-like 1							192.0	162.0	172.0					12																	76442238		2203	4300	6503	SO:0001587	stop_gained	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76442238G>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1147C>T	12.37:g.76442238G>A	ENSP00000261182:p.Gln383*					NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*	p.Q383*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			15	1633	-		Colorectal(145;0.09)	383					B3KNT8	Nonsense_Mutation	SNP	ENST00000261182.8	37	c.1147C>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.613130	0.97705	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344	.	.	.	5.75	5.75	0.90469	.	0.602068	0.18452	N	0.140818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	383;377;383;315;320;200;341	.	ENSP00000261182:Q383X	Q	-	1	0	NAP1L1	74728505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.480000	0.73604	2.717000	0.92951	0.585000	0.79938	CAA		0.388	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		106	412	0	0	0	1	0	106	412				
RAPGEF5	9771	broad.mit.edu	37	7	22206738	22206738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22206738C>T	ENST00000401957.2	-	2	571	c.324G>A	c.(322-324)acG>acA	p.T108T	RAPGEF5_ENST00000344041.6_Silent_p.T258T			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	108	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACAGTGTACGTGAGAAGGA	0.453																																						ENST00000344041.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(772-774)acG>acA		Rap guanine nucleotide exchange factor (GEF) 5							85.0	83.0	84.0					7																	22206738		1941	4155	6096	SO:0001819	synonymous_variant	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22206738C>T	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.324G>A	7.37:g.22206738C>T						RAPGEF5_ENST00000401957.2_Silent_p.T108T	p.T258T	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN			12	1086	-			108					A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	37	c.774G>A																																																																																					0.453	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		15	90	0	0	0	1	0	15	90				
PARK2	5071	broad.mit.edu	37	6	162394349	162394349	+	Missense_Mutation	SNP	G	G	A	rs137853054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162394349G>A	ENST00000366898.1	-	6	821	c.719C>T	c.(718-720)aCg>aTg	p.T240M	PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M|PARK2_ENST00000366894.1_Missense_Mutation_p.T49M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366892.1_Missense_Mutation_p.T240M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	240			T -> M (in PARK2). {ECO:0000269|PubMed:12629236}.|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization). {ECO:0000269|PubMed:9731209}.		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.T240M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCTGTGCACGTAATGCAAGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		20153	0.0		0.0	False		,,,				2504	0.001					ENST00000366898.1																			1	Substitution - Missense(1)	p.T240M(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39	GRCh37	CM030926|CM983422	PARK2	M	rs137853054	c.(718-720)aCg>aTg		parkin RBR E3 ubiquitin protein ligase		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	237.0	182.0	201.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	719,635,272	5.1	0.3	6	dbSNP_133	201	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PARK2	NM_004562.2,NM_013987.2,NM_013988.2	81,81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	240/466,212/438,91/317	162394349	2,13004	2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162394349G>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.719C>T	6.37:g.162394349G>A	ENSP00000355865:p.Thr240Met					PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M|PARK2_ENST00000366892.1_Missense_Mutation_p.T240M|PARK2_ENST00000366894.1_Missense_Mutation_p.T49M	p.T240M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	6	821	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	240		T -> M (in PARK; late onset).|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization).			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.719C>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086777	0.55861	0.0	2.33E-4	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.92858	-2.8;-2.91;-3.12;-2.51;-2.51;-2.88	5.14	5.14	0.70334	.	0.278693	0.35525	N	0.003154	D	0.92463	0.7607	L	0.56769	1.78	0.24015	N	0.99616	D;D;P;P;P	0.62365	0.991;0.965;0.933;0.884;0.94	P;P;B;B;B	0.59643	0.861;0.472;0.317;0.317;0.366	D	0.87630	0.2515	10	0.56958	D	0.05	.	15.9522	0.79850	0.0:0.0:1.0:0.0	.	240;91;212;240;49	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	240;212;91;49;49;49;240;161	ENSP00000355865:T240M;ENSP00000355863:T212M;ENSP00000355862:T91M;ENSP00000355860:T49M;ENSP00000343589:T49M;ENSP00000355858:T240M	ENSP00000343589:T49M	T	-	2	0	PARK2	162314339	0.987000	0.35691	0.299000	0.25016	0.867000	0.49689	6.594000	0.74104	2.550000	0.86006	0.650000	0.86243	ACG		0.448	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			59	207	0	0	0	1	0	59	207				
SWI5	375757	broad.mit.edu	37	9	131038624	131038624	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131038624A>C	ENST00000320188.5	+	1	200	c.200A>C	c.(199-201)gAc>gCc	p.D67A	SWI5_ENST00000418976.1_Missense_Mutation_p.D2A|SWI5_ENST00000419867.2_Missense_Mutation_p.D2A|SWI5_ENST00000608796.1_Missense_Mutation_p.D2A|GOLGA2_ENST00000421699.2_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000495313.1_Intron	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	67					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											CCCGCGCTGGACCCTCTTGCG	0.657																																						ENST00000320188.4																			0											c.(199-201)gAc>gCc		SWI5 recombination repair homolog (yeast)							13.0	16.0	15.0					9																	131038624		1896	4109	6005	SO:0001583	missense	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038624A>C	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.200A>C	9.37:g.131038624A>C	ENSP00000316609:p.Asp67Ala						p.D67A	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN			1	200	+			67					Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	c.200A>C	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687257	0.48097	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.89	3.76	0.43208	.	0.360146	0.22153	N	0.063882	T	0.39036	0.1063	L	0.29908	0.895	0.30954	N	0.724454	D	0.64830	0.994	P	0.54312	0.748	T	0.36311	-0.9753	9	0.36615	T	0.2	.	6.9791	0.24694	0.8979:0.0:0.1021:0.0	.	67	Q1ZZU3	SWI5_HUMAN	A	67	.	ENSP00000316609:D67A	D	+	2	0	SWI5	130078445	0.930000	0.31532	0.963000	0.40424	0.022000	0.10575	1.885000	0.39678	0.906000	0.36621	0.491000	0.48974	GAC		0.657	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		24	103	0	0	0	1	0	24	103				
ZCCHC14	23174	broad.mit.edu	37	16	87445750	87445750	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87445750C>T	ENST00000268616.4	-	12	2383	c.2166G>A	c.(2164-2166)acG>acA	p.T722T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	722	Ser-rich.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGGGCAACGTGGCCATGT	0.642																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2164-2166)acG>acA		zinc finger, CCHC domain containing 14							39.0	43.0	42.0					16																	87445750		2198	4299	6497	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445750C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2166G>A	16.37:g.87445750C>T							p.T722T	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2383	-			722			Ser-rich.		D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.2166G>A	CCDS10961.1																																																																																				0.642	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		86	396	0	0	0	1	0	86	396				
DENND4C	55667	broad.mit.edu	37	9	19346246	19346246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19346246G>T	ENST00000380432.2	+	18	2657	c.2624G>T	c.(2623-2625)aGg>aTg	p.R875M	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	875					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTGATAGTAGGACTTGTATG	0.448																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1042-1044)aGg>aTg		DENN/MADD domain containing 4C							160.0	146.0	151.0					9																	19346246		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346246G>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2624G>T	9.37:g.19346246G>T	ENSP00000369797:p.Arg875Met					DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M|DENND4C_ENST00000380432.2_Missense_Mutation_p.R875M|DENND4C_ENST00000540671.1_Missense_Mutation_p.R205M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M	p.R348M			Q5VZ89	DEN4C_HUMAN			19	2795	+			875			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1043G>T		.	.	.	.	.	.	.	.	.	.	G	12.95	2.090810	0.36855	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.25414	1.8;1.81	5.29	4.37	0.52481	.	0.992377	0.08205	N	0.981578	T	0.40546	0.1121	L	0.47716	1.5	0.35036	D	0.759271	D;D;D;D	0.76494	0.996;0.986;0.999;0.976	P;P;P;P	0.60682	0.878;0.855;0.843;0.72	T	0.30563	-0.9974	10	0.49607	T	0.09	-17.6969	10.094	0.42464	0.0732:0.1359:0.7909:0.0	.	205;875;57;875	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	M	875;348;57;205;348;57	ENSP00000305795:R348M;ENSP00000443804:R205M	ENSP00000305795:R348M	R	+	2	0	DENND4C	19336246	0.998000	0.40836	0.949000	0.38748	0.041000	0.13682	2.918000	0.48829	2.741000	0.93983	0.650000	0.86243	AGG		0.448	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		126	522	1	0	6.92432e-61	1	8.71362e-61	126	522				
MID2	11043	broad.mit.edu	37	X	107167644	107167644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107167644C>T	ENST00000262843.6	+	8	2055	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	MID2_ENST00000443968.2_Missense_Mutation_p.L473F|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	503	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGCATGGACTCCAGAGCGG	0.458																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1507-1509)Ctc>Ttc		midline 2							102.0	78.0	86.0					X																	107167644		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107167644C>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1507C>T	X.37:g.107167644C>T	ENSP00000262843:p.Leu503Phe					MID2_ENST00000443968.2_Missense_Mutation_p.L473F|RP6-191P20.4_ENST00000430140.1_RNA	p.L503F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			8	2055	+			503			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1507C>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554462	0.86231	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;D	0.84873	-1.01;-1.91	5.99	5.99	0.97316	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.98;0.997	D	0.89238	0.3582	10	0.72032	D	0.01	.	16.6313	0.85033	0.0:1.0:0.0:0.0	.	503;473	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	F	503;473	ENSP00000262843:L503F;ENSP00000413976:L473F	ENSP00000262843:L503F	L	+	1	0	MID2	107054300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.035000	0.49759	2.536000	0.85505	0.600000	0.82982	CTC		0.458	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		76	268	0	0	0	1	0	76	268				
FAM83B	222584	broad.mit.edu	37	6	54805024	54805024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805024C>T	ENST00000306858.7	+	5	1371	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	419										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGGAAAAAGCCATCTGATAG	0.488																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1255-1257)Cca>Tca		family with sequence similarity 83, member B							73.0	76.0	75.0					6																	54805024		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805024C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1255C>T	6.37:g.54805024C>T	ENSP00000304078:p.Pro419Ser						p.P419S	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1371	+	Lung NSC(77;0.0178)|Renal(3;0.122)		419					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1255C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674902	0.29783	.	.	ENSG00000168143	ENST00000306858	T	0.07800	3.16	5.47	3.64	0.41730	.	0.224693	0.40302	N	0.001133	T	0.04998	0.0134	M	0.72118	2.19	0.39476	D	0.967804	B	0.21071	0.051	B	0.14578	0.011	T	0.05784	-1.0864	10	0.72032	D	0.01	-14.0648	10.2045	0.43105	0.1371:0.7924:0.0:0.0705	.	419	Q5T0W9	FA83B_HUMAN	S	419	ENSP00000304078:P419S	ENSP00000304078:P419S	P	+	1	0	FAM83B	54912983	0.998000	0.40836	0.213000	0.23690	0.134000	0.20937	1.064000	0.30579	0.752000	0.32923	0.591000	0.81541	CCA		0.488	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		17	367	0	0	0	1	0	17	367				
RB1CC1	9821	broad.mit.edu	37	8	53573722	53573722	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53573722G>T	ENST00000025008.5	-	10	2001	c.1478C>A	c.(1477-1479)cCt>cAt	p.P493H	RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	493					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTACATCTGAGGAACTGTACT	0.373																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1477-1479)cCt>cAt		RB1-inducible coiled-coil 1							109.0	104.0	105.0					8																	53573722		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573722G>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1478C>A	8.37:g.53573722G>T	ENSP00000025008:p.Pro493His					RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H	p.P493H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			10	2001	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	493					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1478C>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547625	0.65311	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76881	-0.2795	10	0.87932	D	0	-16.9857	19.4663	0.94943	0.0:0.0:1.0:0.0	.	493;493	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	493	ENSP00000025008:P493H;ENSP00000396067:P493H;ENSP00000445960:P493H	ENSP00000025008:P493H	P	-	2	0	RB1CC1	53736275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.781000	0.99029	2.675000	0.91044	0.650000	0.86243	CCT		0.373	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		106	356	1	0	4.00015e-43	1	4.88018e-43	106	356				
ANKS6	203286	broad.mit.edu	37	9	101552487	101552487	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101552487A>G	ENST00000353234.4	-	2	808	c.761T>C	c.(760-762)cTc>cCc	p.L254P	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000540940.1_Missense_Mutation_p.L59P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	254						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGCACGCTGAGGTGGTCAGG	0.657																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(760-762)cTc>cCc		ankyrin repeat and sterile alpha motif domain containing 6							70.0	75.0	73.0					9																	101552487		2137	4255	6392	SO:0001583	missense	203286							g.chr9:101552487A>G	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.761T>C	9.37:g.101552487A>G	ENSP00000297837:p.Leu254Pro					ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_Missense_Mutation_p.L59P|ANKS6_ENST00000471846.1_5'UTR	p.L254P			Q68DC2	ANKS6_HUMAN			2	808	-		Acute lymphoblastic leukemia(62;0.0527)	254					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.761T>C	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.64260	0.59;0.59;-0.09	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.255608	0.37219	N	0.002190	T	0.62575	0.2439	N	0.16166	0.38	0.58432	D	0.999999	D	0.71674	0.998	D	0.69824	0.966	T	0.62618	-0.6816	10	0.29301	T	0.29	-18.4596	13.5146	0.61533	1.0:0.0:0.0:0.0	.	254	Q68DC2	ANKS6_HUMAN	P	254;254;59	ENSP00000364158:L254P;ENSP00000297837:L254P;ENSP00000442189:L59P	ENSP00000297837:L254P	L	-	2	0	ANKS6	100592308	1.000000	0.71417	0.987000	0.45799	0.775000	0.43874	6.096000	0.71446	2.079000	0.62486	0.459000	0.35465	CTC		0.657	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		12	388	0	0	0	1	0	12	388				
PLA2G4B	100137049	broad.mit.edu	37	15	42139009	42139009	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139009C>T	ENST00000452633.1	+	19	2275	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PLA2G4B_ENST00000458483.1_Silent_p.D641D|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.D872D|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D|PLA2G4B_ENST00000542534.2_Silent_p.D872D			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	641	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TGTCATTGGACTACAACCTCC	0.637																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2614-2616)gaC>gaT									84.0	79.0	81.0					15																	42139009		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42139009C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1923C>T	15.37:g.42139009C>T						JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.D641D|PLA2G4B_ENST00000452633.1_Silent_p.D641D	p.D872D	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			23	2625	+			641					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2616C>T	CCDS45241.1																																																																																				0.637	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		16	595	0	0	0	1	0	16	595				
VPS13B	157680	broad.mit.edu	37	8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1678					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCATACGGCGGCATCAAGAA	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(5032-5034)cGg>cAg		vacuolar protein sorting 13 homolog B (yeast)							76.0	77.0	77.0					8																	100587894		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100587894G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5033G>A	8.37:g.100587894G>A	ENSP00000351346:p.Arg1678Gln					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q	p.R1678Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		32	5144	+	Breast(36;3.73e-07)		1678					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5033G>A	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684020|4.684020	0.88639|0.88639	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|T;T	.|0.69561	.|-0.41;-0.4	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.992	T|T	0.74682|0.74682	-0.3583|-0.3583	5|10	.|0.24483	.|T	.|0.36	.|.	19.5096|19.5096	0.95135|0.95135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1653;1678	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	S|Q	41|1653;1678	.|ENSP00000349685:R1653Q;ENSP00000351346:R1678Q	.|ENSP00000349685:R1653Q	G|R	+|+	1|2	0|0	VPS13B|VPS13B	100657070|100657070	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.971000|0.971000	0.66376|0.66376	9.015000|9.015000	0.93640|0.93640	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		46	210	0	0	0	1	0	46	210				
PALMD	54873	broad.mit.edu	37	1	100155441	100155441	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100155441A>G	ENST00000263174.4	+	7	1987				PALMD_ENST00000605497.1_Missense_Mutation_p.D542G	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin						regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AATAAAAATGACAAGGCATGC	0.468																																						ENST00000605497.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(1624-1626)gAc>gGc		palmdelphin							41.0	41.0	41.0					1																	100155441		2178	4248	6426	SO:0001627	intron_variant	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100155441A>G	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1612+13A>G	1.37:g.100155441A>G						PALMD_ENST00000263174.4_Intron	p.D542G			Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1750	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	0					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.1625A>G	CCDS758.1																																																																																				0.468	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		21	209	0	0	0	1	0	21	209				
LOC100130331	100130331	broad.mit.edu	37	1	238090559	238090559	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238090559G>A	ENST00000450451.1	+	0	2065					NR_027247.2																						ATCCCTCTACGCCTCTGGGCG	0.587																																						ENST00000450451.1																			0																																																			0							g.chr1:238090559G>A																													1.37:g.238090559G>A								NR_027247.2						0	2065	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.587	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			39	241	0	0	0	1	0	39	241				
GLI2	2736	broad.mit.edu	37	2	121742107	121742107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121742107C>T	ENST00000452319.1	+	12	1804	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	GLI2_ENST00000361492.4_Missense_Mutation_p.R582W|GLI2_ENST00000314490.11_Missense_Mutation_p.R254W|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCTCTCTCCGGAAGCATGT	0.577																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1744-1746)Cgg>Tgg		GLI family zinc finger 2							169.0	168.0	169.0					2																	121742107		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121742107C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1744C>T	2.37:g.121742107C>T	ENSP00000390436:p.Arg582Trp					GLI2_ENST00000314490.11_Missense_Mutation_p.R254W|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R582W	p.R582W			P10070	GLI2_HUMAN			12	1804	+	Renal(3;0.0496)	Prostate(154;0.0623)	582						Missense_Mutation	SNP	ENST00000452319.1	37	c.1744C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169755	0.78452	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.53640	0.61;0.61;0.61	4.48	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.52905	1.665	0.58432	D	0.999996	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;1.0;1.0;0.998	T	0.62450	-0.6852	10	0.87932	D	0	.	9.9524	0.41647	0.4156:0.5844:0.0:0.0	.	582;565;237;237;254	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	W	582;582;254	ENSP00000390436:R582W;ENSP00000354586:R582W;ENSP00000312694:R254W	ENSP00000312694:R254W	R	+	1	2	GLI2	121458577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.261000	0.58841	2.309000	0.77851	0.561000	0.74099	CGG		0.577	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		125	984	0	0	0	1	0	125	984				
MTCL1	23255	broad.mit.edu	37	18	8813213	8813213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8813213C>T	ENST00000306329.11	+	10	3798	c.3798C>T	c.(3796-3798)ttC>ttT	p.F1266F	SOGA2_ENST00000518815.1_Silent_p.F300F|SOGA2_ENST00000400050.3_Silent_p.F906F|SOGA2_ENST00000517570.1_Silent_p.F906F|SOGA2_ENST00000359865.3_Silent_p.F947F|SOGA2_ENST00000306285.7_Silent_p.F300F																							AGAAGGAATTCTTGTGGAGGA	0.567																																						ENST00000359865.3																			0											c.(2839-2841)ttC>ttT		SOGA family member 2							23.0	24.0	24.0					18																	8813213		2201	4300	6501	SO:0001819	synonymous_variant	23255							g.chr18:8813213C>T																												ENST00000306329.11:c.3798C>T	18.37:g.8813213C>T						SOGA2_ENST00000518815.1_Silent_p.F300F|SOGA2_ENST00000306285.7_Silent_p.F300F|SOGA2_ENST00000400050.3_Silent_p.F906F|SOGA2_ENST00000517570.1_Silent_p.F906F|SOGA2_ENST00000306329.11_Silent_p.F1266F	p.F947F	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			12	2983	+			1257						Silent	SNP	ENST00000306329.11	37	c.2841C>T		.	.	.	.	.	.	.	.	.	.	C	6.149	0.395697	0.11638	.	.	ENSG00000168502	ENST00000519823	.	.	.	4.96	-3.48	0.04739	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.58014	-0.7711	4	.	.	.	-10.4086	12.5213	0.56060	0.0:0.2886:0.5687:0.1427	.	.	.	.	F	81	.	.	L	+	1	0	CCDC165	8803213	0.967000	0.33354	0.000000	0.03702	0.808000	0.45660	0.079000	0.14782	-0.507000	0.06549	0.462000	0.41574	CTT		0.567	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			14	78	0	0	0	1	0	14	78				
MYLK	4638	broad.mit.edu	37	3	123427586	123427586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123427586C>T	ENST00000475616.1	-	12	2098	c.2099G>A	c.(2098-2100)aGc>aAc	p.S700N	MYLK_ENST00000360304.3_Missense_Mutation_p.S700N|MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N|MYLK_ENST00000360772.3_Missense_Mutation_p.S700N			Q15746	MYLK_HUMAN	myosin light chain kinase	700	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCTCCAGCGCTGTTCCAGGC	0.602																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2098-2100)aGc>aAc		myosin light chain kinase							75.0	70.0	72.0					3																	123427586		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123427586C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2099G>A	3.37:g.123427586C>T	ENSP00000418335:p.Ser700Asn					MYLK_ENST00000360304.3_Missense_Mutation_p.S700N|MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000475616.1_Missense_Mutation_p.S700N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N	p.S700N			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	16	2477	-		Lung NSC(201;0.0496)	700			Ig-like C2-type 5.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.2099G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865819	0.71949	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	4.46	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65984	0.2744	M	0.69463	2.115	0.80722	D	1	P;P;P;P;P	0.50443	0.734;0.806;0.837;0.935;0.775	B;B;B;P;P	0.46825	0.373;0.425;0.373;0.528;0.507	T	0.65533	-0.6145	9	0.36615	T	0.2	.	8.9041	0.35512	0.0:0.8614:0.0:0.1386	.	700;631;700;631;700	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	700;700;700;631;700	ENSP00000354004:S700N;ENSP00000353452:S700N;ENSP00000352088:S700N;ENSP00000320622:S631N;ENSP00000418335:S700N	ENSP00000320622:S631N	S	-	2	0	MYLK	124910276	1.000000	0.71417	0.952000	0.39060	0.957000	0.61999	4.971000	0.63749	2.453000	0.82957	0.655000	0.94253	AGC		0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		70	333	0	0	0	1	0	70	333				
PTPRB	5787	broad.mit.edu	37	12	70974816	70974816	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70974816C>A	ENST00000261266.5	-	8	1953	c.1924G>T	c.(1924-1926)Gtc>Ttc	p.V642F	PTPRB_ENST00000550857.1_Splice_Site_p.V552F|PTPRB_ENST00000550358.1_Splice_Site_p.V860L|PTPRB_ENST00000334414.6_Splice_Site_p.V860F|PTPRB_ENST00000538708.1_Splice_Site_p.V642F|PTPRB_ENST00000551525.1_Splice_Site_p.V859F|PTPRB_ENST00000451516.2_Splice_Site_p.V552F	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	642	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACTTCTTACCTGTTCTTCCC	0.453																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.e10+1		protein tyrosine phosphatase, receptor type, B							77.0	76.0	76.0					12																	70974816		1904	4135	6039	SO:0001630	splice_region_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70974816C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1924+1G>T	12.37:g.70974816C>A						PTPRB_ENST00000551525.1_Splice_Site_p.V859_splice|PTPRB_ENST00000261266.5_Splice_Site_p.V642_splice|PTPRB_ENST00000550358.1_Splice_Site_p.V860_splice|PTPRB_ENST00000538708.1_Splice_Site_p.V642_splice|PTPRB_ENST00000451516.2_Splice_Site_p.V552_splice|PTPRB_ENST00000550857.1_Splice_Site_p.V552_splice	p.V860_splice	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		10	2622	-	Renal(347;0.236)		642			Fibronectin type-III 10.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	ENST00000261266.5	37	c.2578_splice	CCDS44944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043851|5.043851	0.93685|0.93685	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122|ENST00000550358;ENST00000544694	T;T;T;T;T;T;T|T	0.05447|0.04862	3.44;3.44;3.44;3.44;3.44;3.44;3.44|3.54	5.86|5.86	5.86|5.86	0.93980|0.93980	Fibronectin, type III (1);Immunoglobulin-like fold (1);|.	0.260319|0.260319	0.38897|0.38897	N|N	0.001529|0.001529	T|T	0.22781|0.22781	0.0550|0.0550	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|P	0.89917|0.36733	0.998;0.998;0.997;0.997;1.0;0.997|0.567	D;D;D;D;D;D|P	0.78314|0.47915	0.983;0.983;0.969;0.976;0.991;0.929|0.561	T|T	0.00166|0.00166	-1.1966|-1.1966	9|9	.|.	.|.	.|.	.|.	20.1986|20.1986	0.98248|0.98248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;642;739;859;860;642|860	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467|F8VU56	.;.;.;.;.;PTPRB_HUMAN|.	F|L	860;552;642;552;642;859;739|860	ENSP00000334928:V860F;ENSP00000393028:V552F;ENSP00000438927:V642F;ENSP00000447302:V552F;ENSP00000261266:V642F;ENSP00000448349:V859F;ENSP00000446982:V739F|ENSP00000448058:V860L	.|.	V|V	-|-	1|1	0|0	PTPRB|PTPRB	69261083|69261083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.131000|7.131000	0.77243|0.77243	2.781000|2.781000	0.95711|0.95711	0.650000|0.650000	0.86243|0.86243	GTC|GTG		0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		Missense_Mutation	46	217	1	0	9.84934e-19	1	1.0948e-18	46	217				
LAMA1	284217	broad.mit.edu	37	18	6947173	6947173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6947173C>T	ENST00000389658.3	-	61	8926	c.8833G>A	c.(8833-8835)Gtg>Atg	p.V2945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2945	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTGCCGTCCACAAGCTCTAGT	0.522																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8833-8835)Gtg>Atg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149.0	109.0	123.0					18																	6947173		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6947173C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8833G>A	18.37:g.6947173C>T	ENSP00000374309:p.Val2945Met						p.V2945M	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			61	8926	-		Colorectal(10;0.172)	2945			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8833G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542615	0.13250	.	.	ENSG00000101680	ENST00000389658	T	0.77489	-1.1	5.64	2.88	0.33553	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.291766	0.31884	N	0.006913	T	0.80110	0.4563	M	0.84683	2.71	0.09310	N	1	B;B	0.34200	0.393;0.441	B;B	0.40199	0.232;0.322	T	0.70916	-0.4742	10	0.33141	T	0.24	.	11.315	0.49386	0.0:0.8068:0.0:0.1932	.	2945;275	P25391;B3KSD8	LAMA1_HUMAN;.	M	2945	ENSP00000374309:V2945M	ENSP00000374309:V2945M	V	-	1	0	LAMA1	6937173	0.366000	0.25014	0.040000	0.18447	0.107000	0.19398	0.920000	0.28705	1.404000	0.46819	-0.448000	0.05591	GTG		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		50	251	0	0	0	1	0	50	251				
NCKAP1	10787	broad.mit.edu	37	2	183800055	183800055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183800055G>A	ENST00000361354.4	-	25	3116	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	NCKAP1_ENST00000360982.2_Missense_Mutation_p.S921F|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	915					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGATCGGAAGGATAAAATTAC	0.333																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2761-2763)tCc>tTc		NCK-associated protein 1							124.0	120.0	121.0					2																	183800055		2203	4297	6500	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183800055G>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2744C>T	2.37:g.183800055G>A	ENSP00000355348:p.Ser915Phe					NCKAP1_ENST00000361354.3_Missense_Mutation_p.S915F|NCKAP1_ENST00000478449.1_5'UTR	p.S921F	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		26	3520	-			915					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2762C>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047969	0.93740	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67103	0.949;0.916	T	0.60052	-0.7338	10	0.32370	T	0.25	-7.4815	19.2877	0.94085	0.0:0.0:1.0:0.0	.	915;921	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	F	915;921	ENSP00000355348:S915F;ENSP00000354251:S921F	ENSP00000354251:S921F	S	-	2	0	NCKAP1	183508300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.638000	0.89438	0.585000	0.79938	TCC		0.333	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		65	218	0	0	0	1	0	65	218				
RNF157	114804	broad.mit.edu	37	17	74154560	74154560	+	Missense_Mutation	SNP	C	C	T	rs201495655		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74154560C>T	ENST00000269391.6	-	13	1459	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	443	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCAGCACGGAAGAGTTT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21549	0.0		0.0	False		,,,				2504	0.0				GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(1327-1329)Gtg>Atg		ring finger protein 157							108.0	96.0	100.0					17																	74154560		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74154560C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1327G>A	17.37:g.74154560C>T	ENSP00000269391:p.Val443Met					RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		13	1459	-			443			Ser-rich.		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1327G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702764	0.30232	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.27402	1.67;1.76	5.7	4.54	0.55810	.	0.121727	0.53938	D	0.000050	T	0.17238	0.0414	N	0.25485	0.75	0.80722	D	1	P;P	0.38978	0.652;0.581	B;B	0.26517	0.07;0.048	T	0.03619	-1.1019	10	0.41790	T	0.15	-6.5956	11.1046	0.48194	0.0:0.8707:0.0:0.1293	.	443;443	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	443	ENSP00000269391:V443M;ENSP00000321837:V443M	ENSP00000269391:V443M	V	-	1	0	RNF157	71666155	0.948000	0.32251	0.842000	0.33263	0.335000	0.28730	1.991000	0.40727	2.670000	0.90874	0.655000	0.94253	GTG		0.502	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		40	272	0	0	0	1	0	40	272				
BAI2	576	broad.mit.edu	37	1	32221720	32221720	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32221720C>A	ENST00000373658.3	-	4	1059	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	240					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCAGGAGGGCCTGGAGATGTG	0.701																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(718-720)Ggc>Tgc		brain-specific angiogenesis inhibitor 2							36.0	45.0	42.0					1																	32221720		2203	4299	6502	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221720C>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.718G>T	1.37:g.32221720C>A	ENSP00000362762:p.Gly240Cys					BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C|BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C	p.G240C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	1059	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	240					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.718G>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221614	0.22457	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44881	1.59;1.79;0.96;0.96;1.94;0.91;0.91;0.98;1.56;1.42	5.08	2.03	0.26663	.	0.169510	0.28515	N	0.015080	T	0.27697	0.0681	N	0.14661	0.345	0.19300	N	0.999974	B;D;B;P;P;B	0.58268	0.412;0.982;0.086;0.771;0.606;0.0	B;P;B;B;B;B	0.47162	0.161;0.54;0.015;0.321;0.424;0.0	T	0.08452	-1.0721	10	0.54805	T	0.06	.	7.7798	0.29058	0.0:0.6984:0.1384:0.1632	.	228;240;228;228;240;240	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	C	243;228;240;240;228;240;240;228;233;274	ENSP00000381564:G243C;ENSP00000381555:G228C;ENSP00000362762:G240C;ENSP00000362759:G240C;ENSP00000381550:G228C;ENSP00000257070:G240C;ENSP00000435397:G240C;ENSP00000381548:G228C;ENSP00000410921:G233C;ENSP00000437219:G274C	ENSP00000257070:G240C	G	-	1	0	BAI2	31994307	0.001000	0.12720	0.962000	0.40283	0.928000	0.56348	0.374000	0.20501	1.288000	0.44600	0.462000	0.41574	GGC		0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		23	319	1	0	1.87028e-06	1	1.92935e-06	23	319				
CMSS1	84319	broad.mit.edu	37	3	99567134	99567134	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567134C>A	ENST00000421999.2	+	1	210				FILIP1L_ENST00000331335.5_Missense_Mutation_p.S1129I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S889I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000354552.3_Intron|FILIP1L_ENST00000471562.1_Intron|CMSS1_ENST00000496116.1_Intron	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										ATATATATTACTTACTGTAAT	0.398																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(3385-3387)aGt>aTt		filamin A interacting protein 1-like							281.0	271.0	274.0					3																	99567134		1966	4145	6111	SO:0001627	intron_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567134C>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.64+30247C>A	3.37:g.99567134C>A						FILIP1L_ENST00000471562.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S889I|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Intron|CMSS1_ENST00000496116.1_Intron	p.S1129I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3856	-			0					A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	ENST00000421999.2	37	c.3386G>T	CCDS2935.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354763	0.41700	.	.	ENSG00000168386	ENST00000331335;ENST00000383694;ENST00000441620	T;T	0.24151	2.19;1.87	5.79	5.79	0.91817	.	.	.	.	.	T	0.34395	0.0896	N	0.08118	0	0.50813	D	0.999893	D	0.89917	1.0	D	0.74674	0.984	T	0.46345	-0.9198	9	0.87932	D	0	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	1129	Q4L180-2	.	I	1129;889;875	ENSP00000327880:S1129I;ENSP00000373192:S889I	ENSP00000327880:S1129I	S	-	2	0	FILIP1L	101049824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.746000	0.94184	0.655000	0.94253	AGT		0.398	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		120	497	1	0	8.39346e-61	1	1.05608e-60	120	497				
SLC27A3	11000	broad.mit.edu	37	1	153744853	153744853	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153744853C>T	ENST00000368661.3	+	0	0				INTS3_ENST00000435409.2_Silent_p.L920L|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000512605.1_Silent_p.L714L|INTS3_ENST00000318967.2_Silent_p.L920L|INTS3_ENST00000456435.1_Silent_p.L714L|INTS3_ENST00000476843.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCTGACTCTGGAGCAGAT	0.587											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2140-2142)Ctg>Ttg		integrator complex subunit 3							91.0	85.0	87.0					1																	153744853		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153744853C>T	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153744853C>T	Exception_encountered		OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	INTS3_ENST00000512605.1_Silent_p.L714L|INTS3_ENST00000318967.2_Silent_p.L920L|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.L920L	p.L714L			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		27	3326	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		921					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	c.2140C>T	CCDS1053.1																																																																																				0.587	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		109	317	0	0	0	1	0	109	317				
XPOT	11260	broad.mit.edu	37	12	64818836	64818836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64818836G>A	ENST00000332707.5	+	13	1855	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	442					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGACTACACGGTTTATGGAAG	0.373																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1324-1326)cgG>cgA		exportin, tRNA							100.0	100.0	100.0					12																	64818836		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64818836G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1326G>A	12.37:g.64818836G>A							p.R442R	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	13	1855	+			442					A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.1326G>A	CCDS31852.1																																																																																				0.373	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		89	395	0	0	0	1	0	89	395				
USP21	27005	broad.mit.edu	37	1	161135183	161135183	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161135183C>T	ENST00000289865.8	+	13	1865	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Silent_p.S548S|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368001.1_Silent_p.S534S|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000432542.2_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	548	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGCATCCAGCGAGGGCTACG	0.532																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(1642-1644)agC>agT		ubiquitin specific peptidase 21							66.0	64.0	65.0					1																	161135183		2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161135183C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1644C>T	1.37:g.161135183C>T						USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Silent_p.S548S|USP21_ENST00000368001.1_Silent_p.S534S	p.S548S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		14	2021	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		548					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.1644C>T	CCDS30920.1																																																																																				0.532	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			13	328	0	0	0	1	0	13	328				
ACSL3	2181	broad.mit.edu	37	2	223786120	223786120	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223786120G>T	ENST00000357430.3	+	8	1459	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	310					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TGGTATAACTGGGATGGCAGA	0.368			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(928-930)Ggg>Tgg		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						154.0	151.0	152.0					2																	223786120		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223786120G>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.928G>T	2.37:g.223786120G>T	ENSP00000350012:p.Gly310Trp					ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W	p.G310W	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	8	1459	+		Renal(207;0.0183)	310					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.928G>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792366	0.90453	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.43688	2.84;2.84;0.94	5.11	5.11	0.69529	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78349	-0.2238	10	0.87932	D	0	-13.1041	18.5621	0.91104	0.0:0.0:1.0:0.0	.	310	O95573	ACSL3_HUMAN	W	310;310;80	ENSP00000350012:G310W;ENSP00000375918:G310W;ENSP00000404182:G80W	ENSP00000350012:G310W	G	+	1	0	ACSL3	223494364	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	9.869000	0.99810	2.374000	0.81015	0.591000	0.81541	GGG		0.368	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		172	563	1	0	3.64303e-86	1	4.6696e-86	172	563				
ZNF420	147923	broad.mit.edu	37	19	37618753	37618753	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618753T>C	ENST00000337995.3	+	5	1075	c.860T>C	c.(859-861)gTc>gCc	p.V287A	ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAGGAAGGTCTTTACTCAG	0.383																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(859-861)gTc>gCc		zinc finger protein 420							84.0	93.0	90.0					19																	37618753		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618753T>C	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.860T>C	19.37:g.37618753T>C	ENSP00000338770:p.Val287Ala					ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A|ZNF585A_ENST00000588723.1_Intron	p.V287A	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1075	+			287					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.860T>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	2.275	-0.366154	0.05069	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.16324	2.35;2.35	3.97	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.04275	-0.24	0.58432	D	0.99999	B	0.17268	0.021	B	0.15870	0.014	T	0.35748	-0.9776	9	0.02654	T	1	.	0.1891	0.00132	0.2272:0.1711:0.2344:0.3673	.	287	Q8TAQ5	ZN420_HUMAN	A	287	ENSP00000306102:V287A;ENSP00000338770:V287A	ENSP00000306102:V287A	V	+	2	0	ZNF420	42310593	0.000000	0.05858	0.998000	0.56505	0.970000	0.65996	-1.307000	0.02733	0.537000	0.28751	0.528000	0.53228	GTC		0.383	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		29	473	0	0	0	1	0	29	473				
SERTAD1	29950	broad.mit.edu	37	19	40929186	40929186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40929186C>T	ENST00000357949.4	-	2	426	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	90					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTAGGCACAGGTGGCAGG	0.672																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(268-270)Gtg>Atg		SERTA domain containing 1							14.0	16.0	15.0					19																	40929186		2196	4291	6487	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929186C>T	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.268G>A	19.37:g.40929186C>T	ENSP00000350633:p.Val90Met						p.V90M	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	426	-			90					Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.268G>A	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010296	0.35511	.	.	ENSG00000197019	ENST00000357949	T	0.45276	0.9	4.94	4.94	0.65067	.	0.786233	0.11520	N	0.555829	T	0.28499	0.0705	N	0.14661	0.345	0.27912	N	0.938579	P	0.44090	0.826	B	0.37833	0.259	T	0.09818	-1.0657	10	0.36615	T	0.2	-8.3617	15.0822	0.72122	0.0:1.0:0.0:0.0	.	90	Q9UHV2	SRTD1_HUMAN	M	90	ENSP00000350633:V90M	ENSP00000350633:V90M	V	-	1	0	SERTAD1	45621026	0.068000	0.21057	0.916000	0.36221	0.141000	0.21300	1.351000	0.34022	2.293000	0.77203	0.561000	0.74099	GTG		0.672	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		20	97	0	0	0	1	0	20	97				
TMCC1	23023	broad.mit.edu	37	3	129373835	129373835	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373835G>A	ENST00000393238.3	-	5	1963	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	TMCC1_ENST00000432054.2_Silent_p.S217S|TMCC1_ENST00000426664.2_Silent_p.S427S|TMCC1_ENST00000329333.5_Silent_p.S362S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	541						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S541S(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCCGTTCATAGGACTGATACG	0.423																																						ENST00000393238.3																		PLXND1/TMCC1(4)	2	Substitution - coding silent(2)	p.S541S(2)	large_intestine(2)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1621-1623)tcC>tcT		transmembrane and coiled-coil domain family 1							152.0	152.0	152.0					3																	129373835		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129373835G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1623C>T	3.37:g.129373835G>A						TMCC1_ENST00000329333.5_Silent_p.S362S|TMCC1_ENST00000432054.2_Silent_p.S217S|TMCC1_ENST00000426664.2_Silent_p.S427S	p.S541S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			5	1963	-			541					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.1623C>T	CCDS33855.1																																																																																				0.423	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		13	595	0	0	0	1	0	13	595				
KLK7	5650	broad.mit.edu	37	19	51485163	51485163	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51485163A>G	ENST00000391807.1	-	3	182	c.81T>C	c.(79-81)ggT>ggC	p.G27G	KLK7_ENST00000595820.1_Silent_p.G27G|KLK7_ENST00000597707.1_5'UTR|KLK7_ENST00000336317.4_Intron|KLK7_ENST00000595638.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	27					epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TAATCTTGTCACCCTGGGCTG	0.597																																						ENST00000391807.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19						c.(79-81)ggT>ggC		kallikrein-related peptidase 7							55.0	50.0	52.0					19																	51485163		2203	4300	6503	SO:0001819	synonymous_variant	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51485163A>G	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.81T>C	19.37:g.51485163A>G						KLK7_ENST00000597707.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Intron|KLK7_ENST00000595820.1_Silent_p.G27G	p.G27G	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	3	182	-		all_neural(266;0.026)	27					A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	c.81T>C	CCDS12812.1																																																																																				0.597	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		7	103	0	0	0	1	0	7	103				
ELP6	54859	broad.mit.edu	37	3	47545887	47545887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47545887C>A	ENST00000296149.4	-	4	426	c.256G>T	c.(256-258)Gga>Tga	p.G86*	ELP6_ENST00000439305.1_Nonsense_Mutation_p.G13*|ELP6_ENST00000446787.1_Nonsense_Mutation_p.G13*	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6	86					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)											GACTTGAGTCCCTCAAGGAAC	0.562																																						ENST00000296149.4																			0											c.(256-258)Gga>Tga		elongator acetyltransferase complex subunit 6							65.0	70.0	68.0					3																	47545887		2031	4180	6211	SO:0001587	stop_gained	54859							g.chr3:47545887C>A	AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"""Elongator acetyltransferase complex subunits"""	25976	protein-coding gene	gene with protein product		615020	"""transmembrane protein 103"", ""chromosome 3 open reading frame 75"""	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.256G>T	3.37:g.47545887C>A	ENSP00000296149:p.Gly86*					ELP6_ENST00000446787.1_Nonsense_Mutation_p.G13*|ELP6_ENST00000439305.1_Nonsense_Mutation_p.G13*	p.G86*	NM_001031703.2	NP_001026873.2					4	426	-								Q9BW57|Q9NXJ3	Nonsense_Mutation	SNP	ENST00000296149.4	37	c.256G>T	CCDS43082.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182322	0.78677	.	.	ENSG00000163832	ENST00000296149;ENST00000450051;ENST00000446787;ENST00000439305;ENST00000412761;ENST00000444760;ENST00000425291;ENST00000449409;ENST00000414236	.	.	.	6.06	6.06	0.98353	.	0.091404	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.1737	18.1147	0.89549	0.0:1.0:0.0:0.0	.	.	.	.	X	86;62;13;13;13;13;13;13;13	.	ENSP00000296149:G86X	G	-	1	0	C3orf75	47520891	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	6.021000	0.70832	2.882000	0.98803	0.655000	0.94253	GGA		0.562	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257493.1	NM_017713		50	234	1	0	1.81118e-26	1	2.08805e-26	50	234				
SPATA22	84690	broad.mit.edu	37	17	3346538	3346538	+	Missense_Mutation	SNP	C	C	T	rs139946072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3346538C>T	ENST00000573128.1	-	8	1313	c.830G>A	c.(829-831)gGc>gAc	p.G277D	SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	277					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATAATATGGGCCAGGTGTAAC	0.348																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(829-831)gGc>gAc		spermatogenesis associated 22		C	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,,ASP/GLY	0,4404		0,0,2202	66.0	59.0	62.0		830,701,830,830,,830	5.3	0.7	17	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,intron,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	94,94,94,94,,94	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	277/364,234/321,277/364,277/364,,277/364	3346538	1,13001	2202	4299	6501	SO:0001583	missense	84690							g.chr17:3346538C>T	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.830G>A	17.37:g.3346538C>T	ENSP00000459580:p.Gly277Asp					SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D|SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D	p.G277D			Q8NHS9	SPT22_HUMAN			8	1313	-			277					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.830G>A	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268539	0.80469	0.0	1.16E-4	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.80033	-1.33;-1.33;-1.33	5.32	5.32	0.75619	.	0.074384	0.49916	D	0.000135	D	0.84524	0.5491	L	0.27053	0.805	0.41576	D	0.988713	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.994;1.0	D	0.86378	0.1727	10	0.66056	D	0.02	-10.3436	18.3541	0.90351	0.0:1.0:0.0:0.0	.	261;234;277	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	D	234;277;261	ENSP00000347541:G234D;ENSP00000380354:G277D;ENSP00000441920:G261D	ENSP00000347541:G234D	G	-	2	0	SPATA22	3293288	0.999000	0.42202	0.684000	0.30055	0.882000	0.50991	4.425000	0.59875	2.660000	0.90430	0.557000	0.71058	GGC		0.348	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		22	117	0	0	0	1	0	22	117				
RBBP6	5930	broad.mit.edu	37	16	24560342	24560342	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24560342C>A	ENST00000319715.4	+	3	735				RBBP6_ENST00000452655.2_Missense_Mutation_p.L115I|RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6						embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTACACATTGCTTTTACCTTT	0.294																																						ENST00000452655.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(343-345)Ctt>Att		retinoblastoma binding protein 6							88.0	78.0	81.0					16																	24560342		2196	4298	6494	SO:0001627	intron_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24560342C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.303+40C>A	16.37:g.24560342C>A						RBBP6_ENST00000348022.2_Intron|RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000319715.4_Intron	p.L115I	NM_032626.5	NP_116015.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	3	474	+			0					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.343C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358671	0.24598	.	.	ENSG00000122257	ENST00000452655	T	0.48522	0.81	5.25	3.29	0.37713	.	.	.	.	.	T	0.28995	0.0720	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.05818	-1.0862	7	.	.	.	.	5.6324	0.17518	0.0:0.5754:0.1338:0.2908	.	115	Q7Z6E9-3	.	I	115	ENSP00000390537:L115I	.	L	+	1	0	RBBP6	24467843	0.968000	0.33430	1.000000	0.80357	0.997000	0.91878	0.052000	0.14163	0.714000	0.32081	0.585000	0.79938	CTT		0.294	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		18	48	1	0	5.03518e-11	1	5.3609e-11	18	48				
EFEMP1	2202	broad.mit.edu	37	2	56098049	56098049	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56098049G>A	ENST00000394555.2	-	10	1561	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	EFEMP1_ENST00000355426.3_Splice_Site_p.R376*|EFEMP1_ENST00000394554.1_Splice_Site_p.R376*|EFEMP1_ENST00000424836.2_Splice_Site_p.R238*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	376	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAACACATCGGCTGCAGAGA	0.433																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.e10-1		EGF containing fibulin-like extracellular matrix protein 1							74.0	77.0	76.0					2																	56098049		2203	4300	6503	SO:0001630	splice_region_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56098049G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1125-1C>T	2.37:g.56098049G>A						EFEMP1_ENST00000355426.3_Splice_Site_p.R376_splice|EFEMP1_ENST00000424836.2_Splice_Site_p.R238_splice|EFEMP1_ENST00000394554.1_Splice_Site_p.R376_splice	p.R376_splice	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1561	-			376			EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Splice_Site	SNP	ENST00000394555.2	37	c.1124_splice	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	38	6.821538	0.97865	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	376;376;232;238;376	.	ENSP00000347596:R376X	R	-	1	2	EFEMP1	55951553	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.939000	0.87685	2.824000	0.97209	0.655000	0.94253	CGA		0.433	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2		Nonsense_Mutation	99	239	0	0	0	1	0	99	239				
DRD2	1813	broad.mit.edu	37	11	113281506	113281506	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113281506G>T	ENST00000362072.3	-	8	1619	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Silent_p.I396I|DRD2_ENST00000542968.1_Silent_p.I425I|DRD2_ENST00000355319.2_Silent_p.I427I|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000538967.1_Silent_p.I427I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	425					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|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)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGGTGGTGTAGATGATGGGGT	0.577																																						ENST00000362072.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(1273-1275)atC>atA		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						273.0	203.0	227.0					11																	113281506		2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113281506G>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1275C>A	11.37:g.113281506G>T						DRD2_ENST00000542968.1_Silent_p.I425I|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000355319.2_Silent_p.I427I|DRD2_ENST00000346454.3_Silent_p.I396I|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000538967.1_Silent_p.I427I	p.I425I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	8	1619	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	425					Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.1275C>A	CCDS8361.1																																																																																				0.577	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		137	612	1	0	1.88352e-63	1	2.37737e-63	137	612				
ANO10	55129	broad.mit.edu	37	3	43640110	43640110	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43640110T>C	ENST00000292246.3	-	4	556	c.386A>G	c.(385-387)aAa>aGa	p.K129R	ANO10_ENST00000414522.2_Missense_Mutation_p.K129R|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	129					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGTTCATGTTTGATAATGAA	0.289																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(385-387)aAa>aGa		anoctamin 10							126.0	120.0	122.0					3																	43640110		2203	4296	6499	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43640110T>C	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.386A>G	3.37:g.43640110T>C	ENSP00000292246:p.Lys129Arg					ANO10_ENST00000414522.2_Missense_Mutation_p.K129R|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R	p.K129R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			4	556	-			129					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.386A>G	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732828	0.89482	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141	T;T;T;T;T;T;D;D;D	0.86030	0.14;-0.74;0.16;0.17;1.98;1.93;-2.06;-2.06;-2.06	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.66297	2.02	0.80722	D	1	P;D;P;P	0.71674	0.897;0.998;0.569;0.897	P;D;B;P	0.80764	0.562;0.994;0.382;0.562	D	0.88224	0.2899	10	0.19147	T	0.46	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	129;129;63;129	C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	R	129;129;63;129;129;129;129;129;129	ENSP00000292246:K129R;ENSP00000327767:K129R;ENSP00000379398:K63R;ENSP00000396990:K129R;ENSP00000406432:K129R;ENSP00000402010:K129R;ENSP00000402845:K129R;ENSP00000399103:K129R;ENSP00000397360:K129R	ENSP00000292246:K129R	K	-	2	0	ANO10	43615114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.054000	0.76649	2.244000	0.73946	0.533000	0.62120	AAA		0.289	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		20	96	0	0	0	1	0	20	96				
DEPDC5	9681	broad.mit.edu	37	22	32215144	32215144	+	Silent	SNP	C	C	T	rs368563183		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32215144C>T	ENST00000382112.3	+	21	1873	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_ENST00000536766.1_Silent_p.F573F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000400246.1_Silent_p.F601F|DEPDC5_ENST00000400248.2_Silent_p.F601F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	601					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.F601F(3)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTAACCCCTTCGCTCCCTCTC	0.542																																						ENST00000400246.1																			3	Substitution - coding silent(3)	p.F601F(3)	lung(2)|large_intestine(1)	breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1801-1803)ttC>ttT		DEP domain containing 5		C	,,,	0,4122		0,0,2061	141.0	141.0	141.0		1803,1803,1803,1803	-5.4	0.8	22		141	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,1,6270	TT,TC,CC		0.0119,0.0,0.0080	,,,	601/1595,601/1604,601/1504,601/1573	32215144	1,12541	2061	4210	6271	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32215144C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1803C>T	22.37:g.32215144C>T						DEPDC5_ENST00000400248.1_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000382112.3_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F	p.F601F			O75140	DEPD5_HUMAN			22	1945	+			601					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.1803C>T	CCDS46692.1																																																																																				0.542	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		112	512	0	0	0	1	0	112	512				
TDP1	55775	broad.mit.edu	37	14	90485729	90485729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90485729C>T	ENST00000335725.4	+	15	1861	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	TDP1_ENST00000393452.3_Silent_p.Y537Y|TDP1_ENST00000393454.2_Silent_p.Y537Y|TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000555880.1_Silent_p.Y537Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	537					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCGCTCCTACGAGCTCGGGG	0.527								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1609-1611)taC>taT	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							119.0	107.0	111.0					14																	90485729		2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90485729C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1611C>T	14.37:g.90485729C>T						TDP1_ENST00000393454.2_Silent_p.Y537Y|TDP1_ENST00000393452.3_Silent_p.Y537Y|TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000555880.1_Silent_p.Y537Y	p.Y537Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	15	1861	+		all_cancers(154;0.185)	537					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.1611C>T	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844518	0.16963	.	.	ENSG00000042088	ENST00000556063	.	.	.	5.01	-5.69	0.02428	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4071	14.5368	0.67966	0.0:0.1961:0.0:0.8039	.	.	.	.	X	178	.	.	R	+	1	2	TDP1	89555482	0.015000	0.18098	0.891000	0.34965	0.962000	0.63368	-1.226000	0.02953	-1.082000	0.03101	-1.202000	0.01658	CGA		0.527	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		34	162	0	0	0	1	0	34	162				
SCN10A	6336	broad.mit.edu	37	3	38752374	38752374	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38752374G>A	ENST00000449082.2	-	23	4103	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1368					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTCCATCCAGCCTTTAAAGG	0.542																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4102-4104)ggC>ggT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						102.0	87.0	92.0					3																	38752374		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38752374G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4104C>T	3.37:g.38752374G>A							p.G1368G	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	23	4103	-			1368					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4104C>T	CCDS33736.1																																																																																				0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		17	103	0	0	0	1	0	17	103				
IMPG2	50939	broad.mit.edu	37	3	100976376	100976376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100976376T>C	ENST00000193391.7	-	10	1337	c.1150A>G	c.(1150-1152)Aat>Gat	p.N384D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	384					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AACTCACCATTGATAAGCTGC	0.373																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1150-1152)Aat>Gat		interphotoreceptor matrix proteoglycan 2							120.0	125.0	123.0					3																	100976376		2203	4299	6502	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100976376T>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1150A>G	3.37:g.100976376T>C	ENSP00000193391:p.Asn384Asp						p.N384D	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			10	1337	-			384					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1150A>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509095	0.64410	.	.	ENSG00000081148	ENST00000193391	T	0.27256	1.68	5.51	3.14	0.36123	.	0.396828	0.25984	N	0.027048	T	0.19167	0.0460	L	0.32530	0.975	0.28038	N	0.933874	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.12218	-1.0556	10	0.48119	T	0.1	.	10.4698	0.44629	0.0:0.089:0.0:0.911	.	384;384	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	D	384	ENSP00000193391:N384D	ENSP00000193391:N384D	N	-	1	0	IMPG2	102459066	1.000000	0.71417	0.931000	0.37212	0.975000	0.68041	2.900000	0.48687	0.397000	0.25310	0.379000	0.24179	AAT		0.373	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			127	596	0	0	0	1	0	127	596				
ANO4	121601	broad.mit.edu	37	12	101295607	101295607	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295607T>G	ENST00000392977.3	+	2	254	c.44T>G	c.(43-45)gTc>gGc	p.V15G	ANO4_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000392979.3_Missense_Mutation_p.V15G|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	15					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.V15D(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAACCAAAGTCTTCCACCCA	0.468										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.V15D(1)	lung(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(43-45)gTc>gGc		anoctamin 4							95.0	93.0	94.0					12																	101295607		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101295607T>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.44T>G	12.37:g.101295607T>G	ENSP00000376703:p.Val15Gly	HNSCC(74;0.22)				ANO4_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000392977.3_Missense_Mutation_p.V15G|ANO4_ENST00000299222.9_5'UTR	p.V15G	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			2	405	+			15					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.44T>G		.	.	.	.	.	.	.	.	.	.	T	17.67	3.447952	0.63178	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.77229	-1.08;0.95;-0.48	5.63	4.44	0.53790	.	0.427195	0.22411	N	0.060415	T	0.60663	0.2286	N	0.14661	0.345	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.14023	0.004;0.01	T	0.56619	-0.7949	10	0.87932	D	0	.	7.441	0.27183	0.0:0.2383:0.0:0.7617	.	15;15	Q32M45;Q32M45-2	ANO4_HUMAN;.	G	181;15;15	ENSP00000443751:V181G;ENSP00000376705:V15G;ENSP00000376703:V15G	ENSP00000376703:V15G	V	+	2	0	ANO4	99819738	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	1.183000	0.32041	0.905000	0.36596	0.528000	0.53228	GTC		0.468	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		101	456	0	0	0	1	0	101	456				
FLG2	388698	broad.mit.edu	37	1	152327349	152327349	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152327349G>A	ENST00000388718.5	-	3	2985	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	971	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAGCCAGAGGACTGACCTG	0.488																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2911-2913)tcC>tcT		filaggrin family member 2							265.0	267.0	266.0					1																	152327349		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327349G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2913C>T	1.37:g.152327349G>A						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S971S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2985	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		971			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2913C>T	CCDS30861.1																																																																																				0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		346	1618	0	0	0	1	0	346	1618				
HIVEP1	3096	broad.mit.edu	37	6	12123531	12123531	+	Missense_Mutation	SNP	C	C	T	rs545004610		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123531C>T	ENST00000379388.2	+	4	3835	c.3503C>T	c.(3502-3504)aCg>aTg	p.T1168M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1168					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAATAGAACGGGGAAGTCC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17951	0.0		0.0	False		,,,				2504	0.001					ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3502-3504)aCg>aTg		human immunodeficiency virus type I enhancer binding protein 1							39.0	39.0	39.0					6																	12123531		1831	4078	5909	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123531C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3503C>T	6.37:g.12123531C>T	ENSP00000368698:p.Thr1168Met						p.T1168M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	3835	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1168					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3503C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	3.747	-0.052347	0.07362	.	.	ENSG00000095951	ENST00000379388	T	0.30182	1.54	5.72	4.86	0.63082	.	0.231155	0.22308	N	0.061771	T	0.16085	0.0387	L	0.56769	1.78	0.09310	N	0.999999	D	0.56746	0.977	P	0.44597	0.454	T	0.08889	-1.0700	9	.	.	.	-1.3929	7.5367	0.27714	0.0:0.7144:0.1375:0.1481	.	1168	P15822	ZEP1_HUMAN	M	1168	ENSP00000368698:T1168M	.	T	+	2	0	HIVEP1	12231517	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.429000	0.21412	1.428000	0.47296	-0.136000	0.14681	ACG		0.527	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		8	236	0	0	0	1	0	8	236				
PPP1R26	9858	broad.mit.edu	37	9	138377508	138377508	+	Silent	SNP	C	C	T	rs189393888		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138377508C>T	ENST00000356818.2	+	4	1701	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	PPP1R26_ENST00000401470.3_Silent_p.A384A|PPP1R26_ENST00000605660.1_Silent_p.A384A|PPP1R26_ENST00000604351.1_Silent_p.A384A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.A384A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	384					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCAAGGAGGCCGACGGGGACC	0.637																																						ENST00000356818.2																			0											c.(1150-1152)gcC>gcT		protein phosphatase 1, regulatory subunit 26							37.0	42.0	40.0					9																	138377508		2203	4300	6503	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138377508C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1152C>T	9.37:g.138377508C>T						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.A384A|PPP1R26_ENST00000605286.1_Silent_p.A384A|PPP1R26_ENST00000604351.1_Silent_p.A384A|PPP1R26_ENST00000401470.3_Silent_p.A384A	p.A384A	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1701	+			384					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.1152C>T	CCDS6988.1																																																																																				0.637	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		77	320	0	0	0	1	0	77	320				
DPYSL2	1808	broad.mit.edu	37	8	26492332	26492332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26492332G>A	ENST00000311151.5	+	8	1139	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	243					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.A243T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CATCACCATCGCCAACCAGAC	0.582																																						ENST00000311151.5																			1	Substitution - Missense(1)	p.A243T(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(727-729)Gcc>Acc		dihydropyrimidinase-like 2							150.0	121.0	131.0					8																	26492332		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26492332G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.727G>A	8.37:g.26492332G>A	ENSP00000309539:p.Ala243Thr					DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T	p.A243T	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	8	1139	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	243					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.727G>A	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	37	6.222576	0.97390	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.8	5.8	0.92144	Amidohydrolase 1 (1);	0.057489	0.64402	D	0.000001	D	0.95981	0.8691	M	0.90759	3.145	0.80722	D	1	D;P;D	0.63880	0.988;0.878;0.993	P;B;P	0.53912	0.628;0.297;0.737	D	0.95903	0.8917	10	0.56958	D	0.05	-23.4574	20.0537	0.97638	0.0:0.0:1.0:0.0	.	243;243;299	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	T	207;243;243;207	ENSP00000427985:A207T;ENSP00000309539:A243T;ENSP00000428909:A243T;ENSP00000431117:A207T	ENSP00000309539:A243T	A	+	1	0	DPYSL2	26548249	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	GCC		0.582	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		94	415	0	0	0	1	0	94	415				
NCAPD3	23310	broad.mit.edu	37	11	134055268	134055268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134055268G>A	ENST00000534548.2	-	17	2263	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	733					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTGCTGTAGTCCAGCCTGG	0.438																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2197-2199)gaC>gaT		non-SMC condensin II complex, subunit D3							64.0	61.0	62.0					11																	134055268		2201	4296	6497	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134055268G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2199C>T	11.37:g.134055268G>A						RP11-700F16.3_ENST00000531710.1_RNA	p.D733D	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	17	2263	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	733					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2199C>T	CCDS31723.1																																																																																				0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		42	132	0	0	0	1	0	42	132				
EEFSEC	60678	broad.mit.edu	37	3	127965783	127965783	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127965783C>A	ENST00000254730.6	+	2	475	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	141	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTGCCAGAAGCTGGTCGTGGT	0.488																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(421-423)Ctg>Atg		eukaryotic elongation factor, selenocysteine-tRNA-specific							184.0	185.0	185.0					3																	127965783		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127965783C>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.421C>A	3.37:g.127965783C>A	ENSP00000254730:p.Leu141Met					EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	p.L141M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			2	475	+			141					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.421C>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	9.424	1.083757	0.20309	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.71817	-0.6;-0.6	4.95	3.0	0.34707	Protein synthesis factor, GTP-binding (2);	0.047246	0.85682	D	0.000000	T	0.43743	0.1261	N	0.10707	0.03	0.43036	D	0.994618	B;B	0.33171	0.4;0.05	B;B	0.34779	0.189;0.136	T	0.24333	-1.0163	10	0.10377	T	0.69	-7.6761	6.5504	0.22431	0.3495:0.5574:0.0:0.0931	.	141;141	C9J8T0;P57772	.;SELB_HUMAN	M	141	ENSP00000254730:L141M;ENSP00000417660:L141M	ENSP00000254730:L141M	L	+	1	2	EEFSEC	129448473	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.824000	0.55723	1.053000	0.40415	0.313000	0.20887	CTG		0.488	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		214	960	1	0	1.23709e-56	1	1.54833e-56	214	960				
ZHX3	23051	broad.mit.edu	37	20	39833400	39833400	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39833400C>A	ENST00000309060.3	-	4	572	c.157G>T	c.(157-159)Gca>Tca	p.A53S	ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	53	Required for nuclear localization.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGTTCTGTGCTGCCTCACTG	0.547																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(157-159)Gca>Tca		zinc fingers and homeoboxes 3							105.0	102.0	103.0					20																	39833400		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39833400C>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.157G>T	20.37:g.39833400C>A	ENSP00000312222:p.Ala53Ser					ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S|ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S	p.A53S			Q9H4I2	ZHX3_HUMAN			4	572	-		Myeloproliferative disorder(115;0.00425)	53			Required for nuclear localization.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.157G>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329175	0.24167	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740;ENST00000373261;ENST00000436440	T;T;T;T;T	0.30182	1.54;2.97;2.97;2.75;1.54	5.61	2.6	0.31112	.	1.295780	0.04841	N	0.440561	T	0.21841	0.0526	N	0.25426	0.745	0.09310	N	1	B;B;B;P	0.38827	0.001;0.002;0.037;0.649	B;B;B;B	0.38428	0.007;0.007;0.02;0.273	T	0.07888	-1.0749	10	0.02654	T	1	-5.3323	10.506	0.44834	0.0:0.7867:0.0:0.2133	.	53;53;53;53	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	S	53	ENSP00000312222:A53S;ENSP00000362360:A53S;ENSP00000442290:A53S;ENSP00000443783:A53S;ENSP00000415498:A53S	ENSP00000312222:A53S	A	-	1	0	ZHX3	39266814	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	0.353000	0.20130	0.309000	0.22966	-0.140000	0.14226	GCA		0.547	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		95	459	1	0	1.2711e-46	1	1.5624e-46	95	459				
KCNIP3	30818	broad.mit.edu	37	2	96012774	96012774	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96012774A>G	ENST00000295225.5	+	3	316				KCNIP3_ENST00000468529.1_Missense_Mutation_p.I3V|KCNIP3_ENST00000360990.3_Intron|KCNIP3_ENST00000377181.2_Intron	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin						apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGCCATGGGCATCCAGGGCAT	0.711																																						ENST00000468529.1																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(7-9)Atc>Gtc		Kv channel interacting protein 3, calsenilin							64.0	52.0	56.0					2																	96012774		2203	4300	6503	SO:0001627	intron_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96012774A>G	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.182-27270A>G	2.37:g.96012774A>G						KCNIP3_ENST00000377181.2_Intron|KCNIP3_ENST00000295225.5_Intron|KCNIP3_ENST00000360990.3_Intron	p.I3V	NM_001034914.1	NP_001030086.1	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	1	299	+			0					H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	c.7A>G	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	a	13.45	2.241350	0.39598	.	.	ENSG00000115041	ENST00000468529	T	0.69926	-0.44	3.04	3.04	0.35103	.	.	.	.	.	T	0.55417	0.1919	.	.	.	0.80722	D	1	B	0.15141	0.012	B	0.13407	0.009	T	0.56733	-0.7930	8	0.59425	D	0.04	.	9.4384	0.38653	1.0:0.0:0.0:0.0	.	3	Q9Y2W7-3	.	V	3	ENSP00000417499:I3V	ENSP00000417499:I3V	I	+	1	0	KCNIP3	95376501	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.265000	0.58865	1.366000	0.46076	0.241000	0.17934	ATC		0.711	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		10	70	0	0	0	1	0	10	70				
TAS2R1	50834	broad.mit.edu	37	5	9629925	9629925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9629925C>A	ENST00000382492.2	-	1	538	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	74					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATGATGAATTCTATGAAGAAG	0.388																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(220-222)Gaa>Taa		taste receptor, type 2, member 1							35.0	37.0	36.0					5																	9629925		2203	4299	6502	SO:0001587	stop_gained	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629925C>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.220G>T	5.37:g.9629925C>A	ENSP00000371932:p.Glu74*					CTD-2001E22.1_ENST00000504182.2_RNA	p.E74*	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	538	-			74					Q646G8	Nonsense_Mutation	SNP	ENST00000382492.2	37	c.220G>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524497	0.85600	.	.	ENSG00000169777	ENST00000382492	.	.	.	5.85	-0.66	0.11421	.	1.078920	0.07213	N	0.859590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5745	0.22557	0.0:0.3077:0.1431:0.5492	.	.	.	.	X	74	.	.	E	-	1	0	TAS2R1	9682925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.171000	0.10797	-0.137000	0.14449	GAA		0.388	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			38	200	1	0	2.91434e-09	1	3.06361e-09	38	200				
MC5R	4161	broad.mit.edu	37	18	13826258	13826258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13826258G>A	ENST00000324750.3	+	1	716	c.494G>A	c.(493-495)gGc>gAc	p.G165D	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	165					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATCGCCGGCATCTGGGCT	0.567																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(493-495)gGc>gAc		melanocortin 5 receptor							268.0	243.0	252.0					18																	13826258		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826258G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.494G>A	18.37:g.13826258G>A	ENSP00000318077:p.Gly165Asp						p.G165D	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	716	+			165					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.494G>A	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944955	0.34283	.	.	ENSG00000176136	ENST00000324750	T	0.39787	1.06	5.01	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.150554	0.64402	D	0.000011	T	0.52075	0.1712	M	0.81341	2.54	0.33894	D	0.637674	P	0.44006	0.824	P	0.46299	0.511	T	0.69154	-0.5220	10	0.87932	D	0	.	12.9262	0.58262	0.0:0.0:0.705:0.295	.	165	P33032	MC5R_HUMAN	D	165	ENSP00000318077:G165D	ENSP00000318077:G165D	G	+	2	0	MC5R	13816258	1.000000	0.71417	0.488000	0.27440	0.041000	0.13682	5.258000	0.65479	0.459000	0.27016	0.455000	0.32223	GGC		0.567	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		409	1639	0	0	0	1	0	409	1639				
C3	718	broad.mit.edu	37	19	6684598	6684598	+	Missense_Mutation	SNP	C	C	A	rs74722736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684598C>A	ENST00000245907.6	-	32	4185	c.4093G>T	c.(4093-4095)Gtc>Ttc	p.V1365F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1365					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TTTATGGTGACCTTGAGGTCG	0.478																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4093-4095)Gtc>Ttc		complement component 3							285.0	244.0	258.0					19																	6684598		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684598C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4093G>T	19.37:g.6684598C>A	ENSP00000245907:p.Val1365Phe						p.V1365F	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	32	4185	-			1365					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4093G>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669874	0.67814	.	.	ENSG00000125730	ENST00000245907	T	0.35236	1.32	5.41	4.37	0.52481	Alpha-macroglobulin, receptor-binding (2);	0.126503	0.52532	D	0.000067	T	0.65144	0.2663	M	0.91038	3.17	0.18873	N	0.999985	D	0.89917	1.0	D	0.72338	0.977	T	0.62338	-0.6875	10	0.56958	D	0.05	.	12.0112	0.53289	0.0:0.9154:0.0:0.0846	.	1365	P01024	CO3_HUMAN	F	1365	ENSP00000245907:V1365F	ENSP00000245907:V1365F	V	-	1	0	C3	6635598	0.348000	0.24861	0.020000	0.16555	0.214000	0.24535	2.073000	0.41519	1.413000	0.46997	0.580000	0.79431	GTC		0.478	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		115	516	1	0	4.25972e-66	1	5.38874e-66	115	516				
CASKIN1	57524	broad.mit.edu	37	16	2239246	2239246	+	Missense_Mutation	SNP	C	C	T	rs371614946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2239246C>T	ENST00000343516.6	-	5	571	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	160					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CACCCCAACGCGGCCGAACTC	0.662																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(478-480)cGc>cAc		CASK interacting protein 1		C	HIS/ARG	1,4025		0,1,2012	34.0	44.0	41.0		479	3.5	1.0	16		41	0,8318		0,0,4159	no	missense	CASKIN1	NM_020764.3	29	0,1,6171	TT,TC,CC		0.0,0.0248,0.0081	probably-damaging	160/1432	2239246	1,12343	2013	4159	6172	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2239246C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.479G>A	16.37:g.2239246C>T	ENSP00000345436:p.Arg160His						p.R160H	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			5	571	-			160					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.479G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336137	0.60963	2.48E-4	0.0	ENSG00000167971	ENST00000343516	T	0.63417	-0.04	3.46	3.46	0.39613	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.54631	0.1870	N	0.01705	-0.755	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.66504	-0.5907	9	0.44086	T	0.13	-11.7501	14.0324	0.64624	0.0:1.0:0.0:0.0	.	160	Q8WXD9	CSKI1_HUMAN	H	160	ENSP00000345436:R160H	ENSP00000345436:R160H	R	-	2	0	CASKIN1	2179247	1.000000	0.71417	0.994000	0.49952	0.874000	0.50279	5.790000	0.69038	1.954000	0.56735	0.561000	0.74099	CGC		0.662	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		38	196	0	0	0	1	0	38	196				
LGR5	8549	broad.mit.edu	37	12	71972657	71972657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71972657G>T	ENST00000266674.5	+	15	1665	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.G428*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.G380*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	452					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAAATTAACAGGAAATCATGC	0.363																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1354-1356)Gga>Tga		leucine-rich repeat containing G protein-coupled receptor 5							140.0	134.0	136.0					12																	71972657		2203	4300	6503	SO:0001587	stop_gained	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71972657G>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1354G>T	12.37:g.71972657G>T	ENSP00000266674:p.Gly452*					LGR5_ENST00000536515.1_Nonsense_Mutation_p.G380*|LGR5_ENST00000540815.2_Nonsense_Mutation_p.G428*	p.G452*			O75473	LGR5_HUMAN			15	1665	+			452					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Nonsense_Mutation	SNP	ENST00000266674.5	37	c.1354G>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681761	0.96774	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	.	.	.	X	452;452;380;428	.	ENSP00000266674:G452X	G	+	1	0	LGR5	70258924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.698000	0.91311	2.768000	0.95171	0.650000	0.86243	GGA		0.363	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		12	462	1	0	3.07112e-06	1	3.16074e-06	12	462				
LRRC4B	94030	broad.mit.edu	37	19	51021887	51021887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021887G>T	ENST00000599957.1	-	3	1280	c.1083C>A	c.(1081-1083)tgC>tgA	p.C361*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	361	LRRCT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGGCGCATAGCAGGTGAAAT	0.667																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1081-1083)tgC>tgA		leucine rich repeat containing 4B							49.0	55.0	53.0					19																	51021887		2108	4221	6329	SO:0001587	stop_gained	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021887G>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1083C>A	19.37:g.51021887G>T	ENSP00000471502:p.Cys361*					LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*	p.C361*			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1280	-		all_neural(266;0.131)	361			LRRCT.		Q3ZCQ4|Q58F20	Nonsense_Mutation	SNP	ENST00000599957.1	37	c.1083C>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	36	5.798000	0.96952	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	.	.	.	X	361	.	ENSP00000373853:C361X	C	-	3	2	LRRC4B	55713699	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.597000	0.61062	2.192000	0.70111	0.561000	0.74099	TGC		0.667	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		53	241	1	0	2.73381e-35	1	3.26223e-35	53	241				
MED13L	23389	broad.mit.edu	37	12	116446921	116446921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116446921G>A	ENST00000281928.3	-	10	1503	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	433						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTGCACAACGTTTTAAAAGC	0.383																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1297-1299)Cgt>Tgt		mediator complex subunit 13-like							82.0	78.0	79.0					12																	116446921		2202	4300	6502	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446921G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1297C>T	12.37:g.116446921G>A	ENSP00000281928:p.Arg433Cys						p.R433C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1503	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		433					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1297C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824145	0.50739	.	.	ENSG00000123066	ENST00000281928	T	0.74842	-0.88	5.76	5.76	0.90799	.	0.330564	0.34484	N	0.003940	D	0.83788	0.5330	M	0.64404	1.975	0.58432	D	0.999999	D	0.89917	1.0	P	0.61722	0.893	T	0.82602	-0.0376	10	0.45353	T	0.12	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	433	Q71F56	MD13L_HUMAN	C	433	ENSP00000281928:R433C	ENSP00000281928:R433C	R	-	1	0	MED13L	114931304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.974000	0.70465	2.732000	0.93576	0.655000	0.94253	CGT		0.383	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			68	287	0	0	0	1	0	68	287				
RAPGEF5	9771	broad.mit.edu	37	7	22190035	22190035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22190035G>A	ENST00000401957.2	-	8	1212	c.965C>T	c.(964-966)gCg>gTg	p.A322V	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A472V			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	322					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAAAGTGTCCGCCAGGTCTTT	0.468																																						ENST00000344041.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(1414-1416)gCg>gTg		Rap guanine nucleotide exchange factor (GEF) 5							113.0	112.0	112.0					7																	22190035		1865	4105	5970	SO:0001583	missense	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22190035G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.965C>T	7.37:g.22190035G>A	ENSP00000384044:p.Ala322Val					RAPGEF5_ENST00000401957.2_Missense_Mutation_p.A322V	p.A472V	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN			18	1727	-			322			Ras-GEF.		A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37	c.1415C>T		.	.	.	.	.	.	.	.	.	.	G	10.58	1.389773	0.25118	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000401957	T;T	0.48836	1.29;0.8	5.86	5.86	0.93980	Ras guanine nucleotide exchange factor, domain (1);	0.259043	0.43919	D	0.000519	T	0.24431	0.0592	N	0.08118	0	0.31107	N	0.710363	B;P	0.38048	0.001;0.616	B;B	0.24974	0.002;0.057	T	0.11767	-1.0574	10	0.14252	T	0.57	.	17.7179	0.88343	0.0:0.0:1.0:0.0	.	322;472	Q92565;A8MQ07	RPGF5_HUMAN;.	V	472;324;322	ENSP00000343656:A472V;ENSP00000384044:A322V	ENSP00000343656:A472V	A	-	2	0	RAPGEF5	22156560	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.972000	0.49256	2.937000	0.99478	0.650000	0.86243	GCG		0.468	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		74	351	0	0	0	1	0	74	351				
RNF25	64320	broad.mit.edu	37	2	219528785	219528785	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219528785G>T	ENST00000295704.2	-	10	1715	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	425					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGTGTCCGGCCTTTAGAGC	0.652																																						ENST00000295704.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1273-1275)ggC>ggA		ring finger protein 25							70.0	87.0	81.0					2																	219528785		2203	4300	6503	SO:0001819	synonymous_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219528785G>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1275C>A	2.37:g.219528785G>T							p.G425G	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1715	-		Renal(207;0.0474)	425					A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	c.1275C>A	CCDS2420.1																																																																																				0.652	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		302	723	1	0	4.81469e-126	1	6.20013e-126	302	723				
DNAH11	8701	broad.mit.edu	37	7	21678582	21678582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21678582G>A	ENST00000409508.3	+	28	4874	c.4843G>A	c.(4843-4845)Gct>Act	p.A1615T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1620T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1620	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGCTCTCGCTGAATACCT	0.393									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4858-4860)Gct>Act		dynein, axonemal, heavy chain 11							163.0	160.0	161.0					7																	21678582		1861	4093	5954	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21678582G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4843G>A	7.37:g.21678582G>A	ENSP00000475939:p.Ala1615Thr					DNAH11_ENST00000409508.3_Missense_Mutation_p.A1615T	p.A1620T			Q96DT5	DYH11_HUMAN			28	4889	+			1620			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4858G>A		.	.	.	.	.	.	.	.	.	.	G	6.183	0.401934	0.11696	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.78	-1.86	0.07760	Dynein heavy chain, domain-2 (1);	0.275476	0.40302	N	0.001126	T	0.29093	0.0723	.	.	.	0.24518	N	0.994179	B	0.17038	0.02	B	0.19946	0.027	T	0.24977	-1.0145	9	0.08837	T	0.75	.	6.2056	0.20600	0.3011:0.0:0.5032:0.1957	.	1620	Q96DT5	DYH11_HUMAN	T	1620	ENSP00000330671:A1620T	ENSP00000330671:A1620T	A	+	1	0	DNAH11	21645107	0.326000	0.24669	0.004000	0.12327	0.320000	0.28249	0.739000	0.26173	-0.708000	0.05015	-2.201000	0.00304	GCT		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		81	382	0	0	0	1	0	81	382				
KIF5B	3799	broad.mit.edu	37	10	32320176	32320176	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32320176T>C	ENST00000302418.4	-	14	1863	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	469					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AGCTTGCATATTGTCTTGATC	0.373			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1405-1407)aAt>aGt		kinesin family member 5B							95.0	88.0	91.0					10																	32320176		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32320176T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1406A>G	10.37:g.32320176T>C	ENSP00000307078:p.Asn469Ser						p.N469S	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			14	1863	-		Prostate(175;0.0137)	469					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1406A>G	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862708	0.32884	.	.	ENSG00000170759	ENST00000302418	D	0.84660	-1.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	L	0.38175	1.15	0.37600	D	0.920517	B	0.12013	0.005	B	0.12156	0.007	T	0.75792	-0.3193	10	0.19590	T	0.45	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	469	P33176	KINH_HUMAN	S	469	ENSP00000307078:N469S	ENSP00000307078:N469S	N	-	2	0	KIF5B	32360182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.286000	0.51724	2.371000	0.80710	0.533000	0.62120	AAT		0.373	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		35	199	0	0	0	1	0	35	199				
PXDN	7837	broad.mit.edu	37	2	1647332	1647332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1647332G>T	ENST00000252804.4	-	19	3810	c.3760C>A	c.(3760-3762)Cct>Act	p.P1254T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1254					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACACCCCAGGGTTCTCATAC	0.567																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3760-3762)Cct>Act		peroxidasin homolog (Drosophila)							48.0	52.0	51.0					2																	1647332		1968	4149	6117	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1647332G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3760C>A	2.37:g.1647332G>T	ENSP00000252804:p.Pro1254Thr						p.P1254T	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	19	3810	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1254					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3760C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093020	0.76756	.	.	ENSG00000130508	ENST00000252804	T	0.75260	-0.92	5.41	5.41	0.78517	.	0.202308	0.43110	D	0.000611	D	0.86855	0.6033	M	0.80616	2.505	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.87931	0.2710	10	0.62326	D	0.03	-19.6271	19.2046	0.93724	0.0:0.0:1.0:0.0	.	1254	Q92626	PXDN_HUMAN	T	1254	ENSP00000252804:P1254T	ENSP00000252804:P1254T	P	-	1	0	PXDN	1626339	1.000000	0.71417	0.991000	0.47740	0.472000	0.32918	7.737000	0.84957	2.525000	0.85131	0.563000	0.77884	CCT		0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		14	368	1	0	1.05317e-09	1	1.11087e-09	14	368				
PRDX2	7001	broad.mit.edu	37	19	12910731	12910731	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12910731G>A	ENST00000301522.2	-	5	581	c.453C>T	c.(451-453)tcC>tcT	p.S151S	PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	151	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTCATCCACGGAGCGTCCCA	0.552																																						ENST00000301522.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(451-453)tcC>tcT		peroxiredoxin 2							128.0	105.0	113.0					19																	12910731		2203	4300	6503	SO:0001819	synonymous_variant	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12910731G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.453C>T	19.37:g.12910731G>A						PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	p.S151S	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN			5	581	-			151			Thioredoxin.		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Silent	SNP	ENST00000301522.2	37	c.453C>T	CCDS12281.1																																																																																				0.552	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		9	373	0	0	0	1	0	9	373				
PEG3	5178	broad.mit.edu	37	19	57328183	57328183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328183C>T	ENST00000326441.9	-	10	1990	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	543					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCATGAAGGCTTCCTCACAT	0.448																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1627-1629)Gcc>Acc		paternally expressed 3							172.0	168.0	169.0					19																	57328183		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328183C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1627G>A	19.37:g.57328183C>T	ENSP00000326581:p.Ala543Thr					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T|PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|ZIM2_ENST00000599935.1_Intron	p.A543T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1990	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	543					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1627G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201525	0.09652	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.01613	4.73;4.73	4.14	-3.55	0.04639	.	0.757041	0.11677	N	0.540227	T	0.00724	0.0024	N	0.03324	-0.35	.	.	.	B;B;B	0.14438	0.0;0.01;0.002	B;B;B	0.09377	0.001;0.002;0.004	T	0.46020	-0.9221	9	0.24483	T	0.36	-4.8432	2.2561	0.04055	0.1053:0.1573:0.3212:0.4162	.	419;543;478	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	543;543;513	ENSP00000326581:A543T;ENSP00000403051:A543T	ENSP00000292074:A513T	A	-	1	0	ZIM2	62019995	0.000000	0.05858	0.162000	0.22713	0.559000	0.35586	-1.296000	0.02762	-0.454000	0.07066	-0.355000	0.07637	GCC		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			162	754	0	0	0	1	0	162	754				
RAG1	5896	broad.mit.edu	37	11	36596004	36596004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36596004G>T	ENST00000299440.5	+	2	1262	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	384					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAATCAAAAGAGATTTTTGT	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1150-1152)Gag>Tag		recombination activating gene 1							44.0	48.0	46.0					11																	36596004		2202	4298	6500	SO:0001587	stop_gained	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596004G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1150G>T	11.37:g.36596004G>T	ENSP00000299440:p.Glu384*						p.E384*	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1262	+	all_lung(20;0.226)	all_hematologic(20;0.107)	384					E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	c.1150G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697658	0.88830	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.53	4.61	0.57282	.	0.169885	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5043	0.84266	0.0:0.131:0.869:0.0	.	.	.	.	X	384	.	ENSP00000299440:E384X	E	+	1	0	RAG1	36552580	1.000000	0.71417	0.744000	0.31058	0.777000	0.43975	3.788000	0.55446	1.340000	0.45581	0.650000	0.86243	GAG		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		77	337	1	0	1.20111e-47	1	1.47919e-47	77	337				
GARS	2617	broad.mit.edu	37	7	30638502	30638502	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30638502C>A	ENST00000389266.3	+	2	554	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	105	WHEP-TRS. {ECO:0000255|PROSITE- ProRule:PRU00531}.				cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAGAGGGTTCTGGAAGCAAA	0.438																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(313-315)Ctg>Atg		glycyl-tRNA synthetase	Glycine(DB00145)						55.0	58.0	57.0					7																	30638502		1878	4097	5975	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30638502C>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.313C>A	7.37:g.30638502C>A	ENSP00000373918:p.Leu105Met						p.L105M	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			2	554	+			105			WHEP-TRS.		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.313C>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276056	0.59649	.	.	ENSG00000106105	ENST00000389266	T	0.43688	0.94	5.29	3.46	0.39613	WHEP-TRS (2);S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.91300	3.195	0.58432	D	0.999999	D	0.59767	0.986	D	0.64877	0.93	T	0.70142	-0.4953	10	0.59425	D	0.04	-11.9529	8.6872	0.34245	0.0:0.8139:0.0:0.1861	.	105	P41250	SYG_HUMAN	M	105	ENSP00000373918:L105M	ENSP00000373918:L105M	L	+	1	2	GARS	30605027	0.963000	0.33076	0.999000	0.59377	0.993000	0.82548	2.229000	0.42990	1.396000	0.46663	0.655000	0.94253	CTG		0.438	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		35	171	1	0	3.11337e-16	1	3.41587e-16	35	171				
DIP2B	57609	broad.mit.edu	37	12	51068306	51068306	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51068306A>G	ENST00000301180.5	+	6	724	c.690A>G	c.(688-690)tcA>tcG	p.S230S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	230	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTTCCTCCTCATCATCTTCCT	0.448																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(688-690)tcA>tcG		DIP2 disco-interacting protein 2 homolog B (Drosophila)							139.0	123.0	129.0					12																	51068306		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51068306A>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.690A>G	12.37:g.51068306A>G							p.S230S	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			6	724	+			230			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.690A>G	CCDS31799.1																																																																																				0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		46	271	0	0	0	1	0	46	271				
SLC40A1	30061	broad.mit.edu	37	2	190426914	190426914	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190426914A>G	ENST00000261024.2	-	8	1832	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	469					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AAAGGACCAAAGACCtataat	0.284																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1405-1407)cTt>cCt		solute carrier family 40 (iron-regulated transporter), member 1							25.0	25.0	25.0					2																	190426914		2201	4299	6500	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190426914A>G	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1406T>C	2.37:g.190426914A>G	ENSP00000261024:p.Leu469Pro						p.L469P	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		8	1832	-			469					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.1406T>C	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920082	0.73098	.	.	ENSG00000138449	ENST00000261024	D	0.97016	-4.21	5.92	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);	0.053633	0.85682	N	0.000000	D	0.98049	0.9357	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98278	1.0507	10	0.87932	D	0	-12.7045	11.7231	0.51693	0.9315:0.0:0.0685:0.0	.	469	Q9NP59	S40A1_HUMAN	P	469	ENSP00000261024:L469P	ENSP00000261024:L469P	L	-	2	0	SLC40A1	190135159	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.339000	0.96797	1.078000	0.41014	0.477000	0.44152	CTT		0.284	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			41	121	0	0	0	1	0	41	121				
KY	339855	broad.mit.edu	37	3	134322979	134322979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322979G>A	ENST00000423778.2	-	11	1489	c.1428C>T	c.(1426-1428)agC>agT	p.S476S	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.S455S	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	476					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCGCCCGTCGCTGGTGTGGA	0.632																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1363-1365)agC>agT		kyphoscoliosis peptidase							24.0	27.0	26.0					3																	134322979		2071	4182	6253	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322979G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1428C>T	3.37:g.134322979G>A						KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S476S	p.S455S			Q8NBH2	KY_HUMAN			10	1422	-			476					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1365C>T	CCDS46920.1																																																																																				0.632	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		10	88	0	0	0	1	0	10	88				
FZD1	8321	broad.mit.edu	37	7	90895465	90895465	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895465T>C	ENST00000287934.2	+	1	1683	c.1270T>C	c.(1270-1272)Tcg>Ccg	p.S424P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	424					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGATCCTGTCGCTCACCTG	0.607																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1270-1272)Tcg>Ccg		frizzled family receptor 1							85.0	81.0	83.0					7																	90895465		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895465T>C	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1270T>C	7.37:g.90895465T>C	ENSP00000287934:p.Ser424Pro						p.S424P	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1683	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		424					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1270T>C	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897069	0.52121	.	.	ENSG00000157240	ENST00000287934	D	0.83837	-1.77	4.46	4.46	0.54185	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000112	D	0.90421	0.7001	M	0.87971	2.92	0.44789	D	0.997797	D	0.57257	0.979	P	0.59825	0.864	D	0.92270	0.5824	10	0.87932	D	0	.	13.8883	0.63721	0.0:0.0:0.0:1.0	.	424	Q9UP38	FZD1_HUMAN	P	424	ENSP00000287934:S424P	ENSP00000287934:S424P	S	+	1	0	FZD1	90733401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.925000	0.48884	1.877000	0.54381	0.334000	0.21626	TCG		0.607	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		27	383	0	0	0	1	0	27	383				
PON2	5445	broad.mit.edu	37	7	95034793	95034793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95034793C>T	ENST00000222572.3	-	9	1160	c.914G>A	c.(913-915)cGc>cAc	p.R305H	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.R293H|PON2_ENST00000536183.1_Missense_Mutation_p.R326H			Q15165	PON2_HUMAN	paraoxonase 2	305					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCTGGATGCGGAGAACCTA	0.433																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(976-978)cGc>cAc		paraoxonase 2							149.0	133.0	138.0					7																	95034793		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95034793C>T	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.914G>A	7.37:g.95034793C>T	ENSP00000222572:p.Arg305His					PON2_ENST00000433091.2_Missense_Mutation_p.R293H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000222572.3_Missense_Mutation_p.R305H	p.R326H	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		9	1160	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		305					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.977G>A	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053052	0.75960	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.44083	0.93;0.93;0.93	4.82	3.94	0.45596	Six-bladed beta-propeller, TolB-like (1);	0.056799	0.64402	D	0.000001	T	0.58764	0.2145	M	0.87456	2.885	0.54753	D	0.999984	D;D	0.71674	0.998;0.998	P;P	0.52267	0.694;0.694	T	0.68360	-0.5429	10	0.59425	D	0.04	-3.9691	13.2264	0.59916	0.0:0.9234:0.0:0.0766	.	305;305	A4D1H7;Q15165	.;PON2_HUMAN	H	326;303;293;305	ENSP00000440282:R326H;ENSP00000404622:R293H;ENSP00000222572:R305H	ENSP00000222572:R305H	R	-	2	0	PON2	94872729	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.482000	0.66833	1.395000	0.46643	0.655000	0.94253	CGC		0.433	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		94	448	0	0	0	1	0	94	448				
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3400-3402)gcG>gcA		ataxin 2							227.0	186.0	200.0					12																	111895132		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111895132C>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3402G>A	12.37:g.111895132C>T						ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000535949.1_Silent_p.A827A	p.A1134A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			22	3563	-			1134					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.3402G>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695631	0.48202	.	.	ENSG00000204842	ENST00000550889	.	.	.	5.96	-7.82	0.01205	.	.	.	.	.	T	0.52256	0.1723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62220	-0.6900	5	0.87932	D	0	-8.4051	4.1823	0.10381	0.1525:0.1542:0.1251:0.5681	.	.	.	.	H	19	.	ENSP00000449162:R19H	R	-	2	0	ATXN2	110379515	0.216000	0.23585	0.631000	0.29282	0.988000	0.76386	-0.582000	0.05814	-1.443000	0.01953	-0.142000	0.14014	CGC		0.537	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		35	245	0	0	0	1	0	35	245				
ENPEP	2028	broad.mit.edu	37	4	111397683	111397683	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111397683G>A	ENST00000265162.5	+	1	455	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	38					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTTGCCGTGGGCTTGACCAGA	0.602																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(112-114)gGc>gAc		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						197.0	182.0	187.0					4																	111397683		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397683G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.113G>A	4.37:g.111397683G>A	ENSP00000265162:p.Gly38Asp						p.G38D	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	455	+		Hepatocellular(203;0.217)	38					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.113G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246617	0.95305	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20739	-1.0266	10	0.36615	T	0.2	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	38	Q07075	AMPE_HUMAN	D	38	ENSP00000265162:G38D	ENSP00000265162:G38D	G	+	2	0	ENPEP	111617132	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.394000	0.97261	2.625000	0.88918	0.313000	0.20887	GGC		0.602	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			164	699	0	0	0	1	0	164	699				
TNRC6C	57690	broad.mit.edu	37	17	76060855	76060855	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76060855T>C	ENST00000588061.1	+	6	3175	c.2448T>C	c.(2446-2448)tcT>tcC	p.S816S	TNRC6C_ENST00000541771.1_Silent_p.S816S|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000588847.1_Silent_p.S813S|TNRC6C_ENST00000544502.1_Silent_p.S813S|TNRC6C_ENST00000335749.4_Silent_p.S813S|TNRC6C_ENST00000301624.4_Silent_p.S816S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	816	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGAAAACTCTTGGGGAGAAC	0.517																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(2437-2439)tcT>tcC		trinucleotide repeat containing 6C							69.0	70.0	70.0					17																	76060855		1875	4127	6002	SO:0001819	synonymous_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76060855T>C	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2448T>C	17.37:g.76060855T>C						TNRC6C_ENST00000588061.1_Silent_p.S816S|TNRC6C_ENST00000544502.1_Silent_p.S813S|TNRC6C_ENST00000541771.1_Silent_p.S816S|TNRC6C_ENST00000588847.1_Silent_p.S813S|TNRC6C_ENST00000301624.4_Silent_p.S816S	p.S813S	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	3008	+			816			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.2439T>C	CCDS45798.1																																																																																				0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		60	259	0	0	0	1	0	60	259				
DCDC1	341019	broad.mit.edu	37	11	30925196	30925196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30925196G>A	ENST00000597505.1	-	30	4342	c.4343C>T	c.(4342-4344)gCc>gTc	p.A1448V	DCDC1_ENST00000339794.5_Missense_Mutation_p.A527V|DCDC1_ENST00000406071.2_Missense_Mutation_p.A183V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	209					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGCTGCTCTGGCAAGCCCAAG	0.443																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4342-4344)gCc>gTc		doublecortin domain containing 1							51.0	47.0	48.0					11																	30925196		2202	4298	6500	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30925196G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4343C>T	11.37:g.30925196G>A	ENSP00000472625:p.Ala1448Val					DCDC1_ENST00000406071.2_Missense_Mutation_p.A183V|DCDC1_ENST00000339794.5_Missense_Mutation_p.A527V	p.A1448V			P59894	DCDC1_HUMAN			30	4342	-	Lung SC(675;0.225)		209					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.4343C>T		.	.	.	.	.	.	.	.	.	.	G	9.726	1.160896	0.21538	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	D;D	0.93307	-3.2;-3.2	5.42	3.45	0.39498	Doublecortin domain (2);	0.840570	0.10577	N	0.658408	D	0.90611	0.7056	L	0.55481	1.735	0.22034	N	0.999406	B	0.24258	0.1	B	0.24541	0.054	T	0.80897	-0.1177	10	0.38643	T	0.18	0.2236	9.4072	0.38469	0.0:0.1394:0.5725:0.2881	.	527	Q6ZRR9	DCDC5_HUMAN	V	183;527	ENSP00000385936:A183V;ENSP00000341700:A527V	ENSP00000341700:A527V	A	-	2	0	DCDC5	30881772	0.993000	0.37304	0.260000	0.24451	0.004000	0.04260	2.305000	0.43664	0.693000	0.31634	0.655000	0.94253	GCC		0.443	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		4	88	0	0	0	1	0	4	88				
NFE2L3	9603	broad.mit.edu	37	7	26225340	26225340	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26225340A>C	ENST00000056233.3	+	4	2281	c.2022A>C	c.(2020-2022)atA>atC	p.I674I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	674					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GTATCTTGATAGTACCCAAAG	0.408																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(2020-2022)atA>atC		nuclear factor, erythroid 2-like 3							59.0	60.0	59.0					7																	26225340		2203	4296	6499	SO:0001819	synonymous_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225340A>C	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.2022A>C	7.37:g.26225340A>C							p.I674I	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2281	+			674					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.2022A>C	CCDS5396.1																																																																																				0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			86	358	0	0	0	1	0	86	358				
FAM222B	55731	broad.mit.edu	37	17	27086440	27086440	+	Silent	SNP	C	C	T	rs200113013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27086440C>T	ENST00000341217.5	-	3	752	c.537G>A	c.(535-537)ccG>ccA	p.P179P	FAM222B_ENST00000581407.1_Silent_p.P179P|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.P179P	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	179	Gln-rich.																CCTGGGGTGGCGGGATACCCT	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		15258	0.0		0.001	False		,,,				2504	0.0					ENST00000341217.5																			0											c.(535-537)ccG>ccA		family with sequence similarity 222, member B		C	,	1,4047		0,1,2023	8.0	10.0	10.0		537,537	-1.5	1.0	17		10	3,8315		0,3,4156	no	coding-synonymous,coding-synonymous	C17orf63	NM_001077498.1,NM_018182.2	,	0,4,6179	TT,TC,CC		0.0361,0.0247,0.0323	,	179/563,179/563	27086440	4,12362	2024	4159	6183	SO:0001819	synonymous_variant	55731							g.chr17:27086440C>T	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.537G>A	17.37:g.27086440C>T						FAM222B_ENST00000581407.1_Silent_p.P179P|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.P179P	p.P179P	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN			3	752	-			179			Gln-rich.		Q9H6F3|Q9NVJ4|Q9NXN6	Silent	SNP	ENST00000341217.5	37	c.537G>A	CCDS45637.1																																																																																				0.711	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		10	61	0	0	0	1	0	10	61				
ATXN7L3	56970	broad.mit.edu	37	17	42273431	42273431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273431C>T	ENST00000454077.2	-	6	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R165Q	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGATCTTCGAGGGGAATT	0.498																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(493-495)cGa>cAa		ataxin 7-like 3							90.0	88.0	89.0					17																	42273431		1852	4092	5944	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42273431C>T	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.515G>A	17.37:g.42273431C>T	ENSP00000397259:p.Arg172Gln					ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R172Q	p.R165Q	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	802	-		Breast(137;0.00765)|Prostate(33;0.0181)	165						Missense_Mutation	SNP	ENST00000454077.2	37	c.494G>A	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095123	0.76870	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.75484	0.788;0.986	T	0.76932	-0.2776	9	0.54805	T	0.06	.	16.9903	0.86352	0.0:1.0:0.0:0.0	.	165;172	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	172;165	.	ENSP00000374035:R165Q	R	-	2	0	ATXN7L3	39628957	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.202000	0.77856	2.290000	0.77057	0.556000	0.70494	CGA		0.498	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			73	307	0	0	0	1	0	73	307				
ARID1B	57492	broad.mit.edu	37	6	157528312	157528312	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157528312T>C	ENST00000350026.5	+	19	5999	c.5998T>C	c.(5998-6000)Tgg>Cgg	p.W2000R	ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W2013R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2000					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGATGAGTGGTGGTGGGACTG	0.542																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6037-6039)Tgg>Cgg		AT rich interactive domain 1B (SWI1-like)							108.0	108.0	108.0					6																	157528312		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528312T>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5998T>C	6.37:g.157528312T>C	ENSP00000055163:p.Trp2000Arg					ARID1B_ENST00000350026.5_Missense_Mutation_p.W2000R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R	p.W2013R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6038	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2000					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6037T>C	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530980	0.45073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.28	5.28	0.74379	.	0.055533	0.85682	D	0.000000	T	0.47040	0.1424	M	0.82630	2.6	0.80722	D	1	P;P;P	0.40931	0.733;0.687;0.687	B;B;B	0.42112	0.376;0.259;0.259	T	0.59705	-0.7404	10	0.87932	D	0	.	15.5073	0.75750	0.0:0.0:0.0:1.0	.	2000;2013;1995	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	2013;2000;2053;1995;1522	ENSP00000344546:W2013R;ENSP00000055163:W2000R;ENSP00000356116:W2053R;ENSP00000275248:W1995R;ENSP00000412835:W1522R	ENSP00000275248:W1995R	W	+	1	0	ARID1B	157570004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.247000	0.72411	2.117000	0.64856	0.460000	0.39030	TGG		0.542	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		66	326	0	0	0	1	0	66	326				
MTUS2	23281	broad.mit.edu	37	13	29599490	29599490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29599490A>G	ENST00000431530.3	+	1	743	c.685A>G	c.(685-687)Aca>Gca	p.T229A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	219						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCACAGAAGACATTGCCAGA	0.592																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(685-687)Aca>Gca		microtubule associated tumor suppressor candidate 2							40.0	42.0	41.0					13																	29599490		2198	4300	6498	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599490A>G	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.685A>G	13.37:g.29599490A>G	ENSP00000392057:p.Thr229Ala						p.T229A	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	743	+			219					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.685A>G	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	17.45	3.392520	0.62066	.	.	ENSG00000132938	ENST00000431530	T	0.14893	2.47	5.49	1.63	0.23807	.	0.382752	0.22018	N	0.065762	T	0.11367	0.0277	L	0.47716	1.5	0.09310	N	1	P	0.42296	0.775	B	0.38156	0.266	T	0.15723	-1.0427	9	.	.	.	.	2.0027	0.03471	0.5035:0.1441:0.0754:0.2771	.	219	Q5JR59	MTUS2_HUMAN	A	229	ENSP00000392057:T229A	.	T	+	1	0	MTUS2	28497490	0.581000	0.26741	0.002000	0.10522	0.369000	0.29798	1.212000	0.32394	0.332000	0.23536	0.459000	0.35465	ACA		0.592	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		56	191	0	0	0	1	0	56	191				
HTATIP2	10553	broad.mit.edu	37	11	20388826	20388826	+	Missense_Mutation	SNP	C	C	T	rs148194087	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20388826C>T	ENST00000532081.1	+	2	399	c.302C>T	c.(301-303)gCg>gTg	p.A101V	HTATIP2_ENST00000531058.1_Splice_Site_p.A101V|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000443524.2_Splice_Site_p.A101V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101V|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000419348.2_Splice_Site_p.A135V|HTATIP2_ENST00000451739.2_Splice_Site_p.A101V	NM_001098523.1	NP_001091993.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAAGCTGGGGCGGTAAGGAAG	0.458																																						ENST00000532081.1																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(301-303)gCg>gTg		HIV-1 Tat interactive protein 2, 30kDa		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	251.0	244.0	247.0		404,302,302,302,302	5.6	1.0	11	dbSNP_134	247	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense,missense-near-splice	HTATIP2	NM_001098520.1,NM_001098521.1,NM_001098522.1,NM_001098523.1,NM_006410.4	64,64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	135/277,101/243,101/243,101/134,101/243	20388826	1,13005	2203	4300	6503	SO:0001583	missense	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20388826C>T	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000532081.1:c.302C>T	11.37:g.20388826C>T	ENSP00000432107:p.Ala101Val					HTATIP2_ENST00000419348.2_Splice_Site_p.A135_splice|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000451739.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000531058.1_Splice_Site_p.A101_splice|HTATIP2_ENST00000443524.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V	p.A101V	NM_001098523.1	NP_001091993.1	Q9BUP3	HTAI2_HUMAN			2	399	+			101						Missense_Mutation	SNP	ENST00000532081.1	37	c.302C>T	CCDS53613.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125446	0.56721	0.0	1.16E-4	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T;T;T;T	0.32023	1.47;1.55;1.55;1.55;1.55;1.47;1.47;1.55	5.6	5.6	0.85130	Semialdehyde dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.145254	0.64402	D	0.000008	T	0.35189	0.0923	L	0.36672	1.1	0.23823	N	0.996744	P;D;B	0.65815	0.813;0.995;0.42	B;P;B	0.54499	0.266;0.754;0.014	T	0.18304	-1.0341	10	0.30078	T	0.28	-15.037	12.1009	0.53783	0.1716:0.8283:0.0:0.0	.	101;101;135	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	V	101;101;101;135;101;101;101;101	ENSP00000436548:A101V;ENSP00000397752:A101V;ENSP00000387876:A101V;ENSP00000392985:A135V;ENSP00000394259:A101V;ENSP00000432338:A101V;ENSP00000432107:A101V;ENSP00000436729:A101V	ENSP00000392985:A135V	A	+	2	0	HTATIP2	20345402	1.000000	0.71417	0.999000	0.59377	0.189000	0.23516	3.083000	0.50136	2.633000	0.89246	0.555000	0.69702	GCG		0.458	HTATIP2-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387446.2	NM_001098521		11	346	0	0	0	1	0	11	346				
PCBP1	5093	broad.mit.edu	37	2	70315123	70315123	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315123T>G	ENST00000303577.5	+	1	539	c.248T>G	c.(247-249)aTc>aGc	p.I83S	PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	83					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAGGAAGATATCAACAGCTCC	0.592																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(247-249)aTc>aGc		poly(rC) binding protein 1							81.0	94.0	90.0					2																	70315123		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315123T>G		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.248T>G	2.37:g.70315123T>G	ENSP00000305556:p.Ile83Ser					PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	p.I83S	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	539	+			83					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.248T>G	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251377	0.59212	.	.	ENSG00000169564	ENST00000303577	T	0.41065	1.01	4.16	3.01	0.34805	.	0.000000	0.85682	U	0.000000	T	0.30885	0.0779	L	0.37466	1.105	0.58432	D	0.999999	B	0.21071	0.051	B	0.30179	0.112	T	0.05599	-1.0875	10	0.19590	T	0.45	.	8.1495	0.31132	0.0:0.098:0.0:0.902	.	83	Q15365	PCBP1_HUMAN	S	83	ENSP00000305556:I83S	ENSP00000305556:I83S	I	+	2	0	PCBP1	70168627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.890000	0.69774	0.954000	0.37851	-0.361000	0.07541	ATC		0.592	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		252	760	0	0	0	1	0	252	760				
NEK11	79858	broad.mit.edu	37	3	130871281	130871281	+	Missense_Mutation	SNP	G	G	A	rs547475674	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130871281G>A	ENST00000383366.4	+	8	990	c.697G>A	c.(697-699)Gct>Act	p.A233T	NEK11_ENST00000412440.2_Missense_Mutation_p.A85T|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T|NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T	NM_024800.4	NP_079076.3			NIMA-related kinase 11									p.A233P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCATGCATTCGCTGGCTCCAA	0.358													G|||	3	0.000599042	0.0	0.0	5008	,	,		18012	0.0		0.0	False		,,,				2504	0.0031					ENST00000383366.4																			1	Substitution - Missense(1)	p.A233P(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(697-699)Gct>Act		NIMA-related kinase 11							103.0	107.0	106.0					3																	130871281		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130871281G>A	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000383366.4:c.697G>A	3.37:g.130871281G>A	ENSP00000372857:p.Ala233Thr					NEK11_ENST00000510769.1_Intron|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T|NEK11_ENST00000412440.2_Missense_Mutation_p.A85T|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T	p.A233T	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			8	990	+			233			Protein kinase.			Missense_Mutation	SNP	ENST00000383366.4	37	c.697G>A	CCDS3069.1	.	.	.	.	.	.	.	.	.	.	G	3.217	-0.160429	0.06502	.	.	ENSG00000114670	ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.91	-3.99	0.04069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.524667	0.17378	N	0.176402	T	0.27731	0.0682	N	0.05031	-0.125	0.26347	N	0.977277	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.001	T	0.25950	-1.0117	10	0.10377	T	0.69	.	4.8796	0.13672	0.4074:0.0:0.2913:0.3013	.	233;85;233;233;233	Q8NG66-3;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	T	233;233;233;233;233;85;233;233	ENSP00000397180:A233T;ENSP00000349389:A233T;ENSP00000423458:A233T;ENSP00000425114:A233T;ENSP00000372857:A233T;ENSP00000411888:A85T;ENSP00000426662:A233T;ENSP00000421851:A233T	ENSP00000349389:A233T	A	+	1	0	NEK11	132353971	0.005000	0.15991	0.281000	0.24762	0.055000	0.15305	-0.415000	0.07106	-1.039000	0.03275	-0.787000	0.03339	GCT		0.358	NEK11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356755.1	NM_024800		114	438	0	0	0	1	0	114	438				
ZNF347	84671	broad.mit.edu	37	19	53645099	53645099	+	Nonsense_Mutation	SNP	G	G	A	rs146144984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645099G>A	ENST00000334197.7	-	5	1050	c.982C>T	c.(982-984)Cga>Tga	p.R328*	ZNF347_ENST00000452676.2_Nonsense_Mutation_p.R329*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAATTTCGACTAAAGACC	0.398																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(985-987)Cga>Tga		zinc finger protein 347		G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	136.0	128.0	131.0		985,985,982	-5.3	0.0	19	dbSNP_134	131	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	329/841,329/841,328/840	53645099	1,13005	2203	4300	6503	SO:0001587	stop_gained	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645099G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.982C>T	19.37:g.53645099G>A	ENSP00000334146:p.Arg328*					ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.R328*	p.R329*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1411	-			328					B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	ENST00000334197.7	37	c.985C>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997065	0.54147	2.27E-4	0.0	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	.	.	.	2.65	-5.29	0.02747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.5002	0.04631	0.102:0.1464:0.3053:0.4463	.	.	.	.	X	328;329;2	.	ENSP00000334146:R328X	R	-	1	2	ZNF347	58336911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.256000	0.01181	-1.398000	0.02066	-0.428000	0.05917	CGA		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		125	473	0	0	0	1	0	125	473				
SLC47A2	146802	broad.mit.edu	37	17	19618448	19618448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19618448G>A	ENST00000325411.5	-	2	256	c.206C>T	c.(205-207)tCg>tTg	p.S69L	SLC47A2_ENST00000350657.5_Missense_Mutation_p.S69L|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GAGGGTCACCGATGCCAGCTC	0.637																																						ENST00000350657.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(205-207)tCg>tTg		solute carrier family 47 (multidrug and toxin extrusion), member 2							80.0	79.0	79.0					17																	19618448		2203	4300	6503	SO:0001583	missense	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19618448G>A	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.206C>T	17.37:g.19618448G>A	ENSP00000326671:p.Ser69Leu					SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.S69L	p.S69L	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN			2	380	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		69					A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	c.206C>T	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108446	0.20714	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.31510	1.49;1.49;1.49	4.55	4.55	0.56014	.	0.508910	0.17472	U	0.173074	T	0.49081	0.1536	M	0.87547	2.89	0.09310	N	1	P;P;B	0.50528	0.936;0.936;0.41	P;P;B	0.48334	0.574;0.574;0.147	T	0.53585	-0.8418	10	0.87932	D	0	-7.3266	15.1595	0.72771	0.0:0.0:1.0:0.0	.	69;69;69	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	69;69;20;69	ENSP00000338084:S69L;ENSP00000326671:S69L;ENSP00000391848:S69L	ENSP00000326671:S69L	S	-	2	0	SLC47A2	19559040	0.107000	0.21998	0.004000	0.12327	0.274000	0.26718	3.066000	0.50002	2.252000	0.74401	0.305000	0.20034	TCG		0.637	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		90	403	0	0	0	1	0	90	403				
TRNAU1AP	54952	broad.mit.edu	37	1	28891240	28891240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28891240G>T	ENST00000373830.3	+	5	330	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	102	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CTTTGTGGGGGACCTGACCCC	0.512																																						ENST00000373830.3																			0				breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						c.(304-306)Gac>Tac		tRNA selenocysteine 1 associated protein 1							163.0	152.0	156.0					1																	28891240		2203	4300	6503	SO:0001583	missense	54952				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:28891240G>T		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.304G>T	1.37:g.28891240G>T	ENSP00000362936:p.Asp102Tyr					TRNAU1AP_ENST00000495995.1_3'UTR	p.D102Y	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN			5	330	+			102			RRM 2.		Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	37	c.304G>T	CCDS324.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085489	0.94100	.	.	ENSG00000180098	ENST00000373830	T	0.16457	2.34	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092822	0.64402	D	0.000001	T	0.39253	0.1071	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.03684	-1.1013	10	0.87932	D	0	.	17.0453	0.86500	0.0:0.0:1.0:0.0	.	102	Q9NX07	TSAP1_HUMAN	Y	102	ENSP00000362936:D102Y	ENSP00000362936:D102Y	D	+	1	0	TRNAU1AP	28763827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.383000	0.79741	2.814000	0.96858	0.655000	0.94253	GAC		0.512	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		45	452	1	0	1.48734e-19	1	1.65976e-19	45	452				
MOV10	4343	broad.mit.edu	37	1	113232719	113232719	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113232719C>T	ENST00000413052.2	+	5	1225	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	MOV10_ENST00000369644.1_Splice_Site_p.R223C|MOV10_ENST00000369645.1_Splice_Site_p.R279C|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Splice_Site_p.R279C	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	279					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAGACCTGACCGGTAACTCCT	0.597																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.e6+1		Mov10, Moloney leukemia virus 10, homolog (mouse)							43.0	44.0	44.0					1																	113232719		2203	4300	6503	SO:0001630	splice_region_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113232719C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.836+1C>T	1.37:g.113232719C>T						MOV10_ENST00000357443.2_Splice_Site_p.R279_splice|MOV10_ENST00000369645.1_Splice_Site_p.R279_splice|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Splice_Site_p.R279_splice	p.R223_splice			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	6	1696	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	279					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Splice_Site	SNP	ENST00000413052.2	37	c.668_splice	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517779	0.64634	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.77	0.0455	0.14230	.	0.581408	0.19919	N	0.103134	D	0.87204	0.6119	L	0.61218	1.895	0.80722	D	1	P;D;P	0.76494	0.951;0.999;0.951	B;P;B	0.56343	0.326;0.796;0.326	T	0.82729	-0.0313	10	0.42905	T	0.14	-8.0E-4	0.619	0.00775	0.2068:0.3713:0.1398:0.2821	.	223;279;279	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	C	279;279;279;223;279;217	ENSP00000399797:R279C;ENSP00000358659:R279C;ENSP00000358658:R223C;ENSP00000350028:R279C	ENSP00000285733:R279C	R	+	1	0	MOV10	113034242	0.987000	0.35691	0.998000	0.56505	0.985000	0.73830	0.525000	0.22956	0.087000	0.17167	0.561000	0.74099	CGC		0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	Missense_Mutation	80	296	0	0	0	1	0	80	296				
DIO3	1735	broad.mit.edu	37	14	102026671	102026671	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102026671C>A	ENST00000510508.4	+	0	0				DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_5'Flank			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III						cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCGCTCCAGTCTCGACGTTCC	0.726																																						ENST00000408206.1																			0																				18.0	21.0	20.0					14																	102026671		1560	3581	5141	SO:0001631	upstream_gene_variant	0							g.chr14:102026671C>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681		14.37:g.102026671C>A	Exception_encountered							NR_031649.1						0	88	-								G3XAM0|Q8WVN5	RNA	SNP	ENST00000510508.4	37		CCDS41992.2																																																																																				0.726	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		8	91	1	0	1.58986e-06	1	1.64048e-06	8	91				
XPO7	23039	broad.mit.edu	37	8	21844746	21844746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21844746C>T	ENST00000252512.9	+	14	1772	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C	XPO7_ENST00000433566.4_Missense_Mutation_p.R559C|XPO7_ENST00000434536.1_Missense_Mutation_p.R567C	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	558					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAACAGTTTCGTAAGATCTA	0.483																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1699-1701)Cgt>Tgt		exportin 7							115.0	116.0	116.0					8																	21844746		1914	4118	6032	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21844746C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1672C>T	8.37:g.21844746C>T	ENSP00000252512:p.Arg558Cys					XPO7_ENST00000252512.9_Missense_Mutation_p.R558C|XPO7_ENST00000433566.4_Missense_Mutation_p.R559C	p.R567C			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	14	1801	+			558					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1699C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203070	0.58234	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65178	-0.14;-0.14;-0.14	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.89214	3.015	0.80722	D	1	P;P;P	0.49358	0.877;0.923;0.923	B;P;P	0.53450	0.313;0.726;0.726	T	0.78201	-0.2296	10	0.38643	T	0.18	-8.456	14.4657	0.67482	0.1471:0.8529:0.0:0.0	.	559;567;558	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	C	567;558;559	ENSP00000404853:R567C;ENSP00000252512:R558C;ENSP00000410249:R559C	ENSP00000252512:R558C	R	+	1	0	XPO7	21900692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.720000	0.54933	2.732000	0.93576	0.655000	0.94253	CGT		0.483	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		85	419	0	0	0	1	0	85	419				
SSFA2	6744	broad.mit.edu	37	2	182781142	182781142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781142G>T	ENST00000431877.2	+	11	2954	c.2775G>T	c.(2773-2775)caG>caT	p.Q925H	SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	925						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCACTGCAGAATCTTTCAC	0.393																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2773-2775)caG>caT		sperm specific antigen 2							66.0	65.0	65.0					2																	182781142		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182781142G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2775G>T	2.37:g.182781142G>T	ENSP00000388731:p.Gln925His					SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H	p.Q925H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2954	+			925					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2775G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529694	0.64860	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.95	5.95	0.96441	.	0.099627	0.64402	D	0.000001	T	0.64724	0.2624	M	0.74881	2.28	0.52099	D	0.99994	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997	T	0.65796	-0.6081	10	0.62326	D	0.03	-7.6063	14.5295	0.67915	0.0694:0.0:0.9306:0.0	.	772;434;925;925;925	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	H	925;925;925;772;434	ENSP00000388731:Q925H;ENSP00000314669:Q925H;ENSP00000387319:Q925H;ENSP00000409867:Q772H;ENSP00000386916:Q434H	ENSP00000314669:Q925H	Q	+	3	2	SSFA2	182489387	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.660000	0.68018	2.824000	0.97209	0.655000	0.94253	CAG		0.393	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		50	247	1	0	3.4597e-24	1	3.94879e-24	50	247				
CCDC129	223075	broad.mit.edu	37	7	31682385	31682385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682385C>T	ENST00000407970.3	+	11	1439	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	CCDC129_ENST00000451887.2_Silent_p.D493D|CCDC129_ENST00000319386.3_Silent_p.D319D|CCDC129_ENST00000409210.1_Silent_p.D375D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	467										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCCCAGGACTGTCAGCTAG	0.507																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(955-957)gaC>gaT		coiled-coil domain containing 129							86.0	84.0	84.0					7																	31682385		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31682385C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1401C>T	7.37:g.31682385C>T						CCDC129_ENST00000451887.2_Silent_p.D493D|CCDC129_ENST00000409210.1_Silent_p.D375D|CCDC129_ENST00000407970.3_Silent_p.D467D	p.D319D			Q6ZRS4	CC129_HUMAN			11	1950	+			467					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.957C>T	CCDS5435.2																																																																																				0.507	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		70	310	0	0	0	1	0	70	310				
SH2D3C	10044	broad.mit.edu	37	9	130536596	130536596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130536596C>A	ENST00000314830.8	-	2	301	c.188G>T	c.(187-189)aGt>aTt	p.S63I	SH2D3C_ENST00000373277.4_5'Flank|SH2D3C_ENST00000471939.1_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	63					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCTGGGGGACTCTTGGGCAC	0.582																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(187-189)aGt>aTt		SH2 domain containing 3C							54.0	51.0	52.0					9																	130536596		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130536596C>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.188G>T	9.37:g.130536596C>A	ENSP00000317817:p.Ser63Ile						p.S63I	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			2	301	-			63					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.188G>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389461	0.82902	.	.	ENSG00000095370	ENST00000314830	T	0.15487	2.42	5.08	5.08	0.68730	.	0.083709	0.51477	D	0.000084	T	0.32346	0.0826	L	0.46157	1.445	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	T	0.01884	-1.1254	10	0.87932	D	0	-0.9201	15.5724	0.76349	0.0:1.0:0.0:0.0	.	63	Q8N5H7	SH2D3_HUMAN	I	63	ENSP00000317817:S63I	ENSP00000317817:S63I	S	-	2	0	SH2D3C	129576417	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.910000	0.63321	2.546000	0.85860	0.561000	0.74099	AGT		0.582	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		12	280	1	0	7.03913e-09	1	7.37812e-09	12	280				
OVCH1	341350	broad.mit.edu	37	12	29624906	29624906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624906C>T	ENST00000318184.5	-	16	1684	c.1685G>A	c.(1684-1686)gGc>gAc	p.G562D	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	562						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGAGGGATGCCACAGACATC	0.478																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1684-1686)gGc>gAc		ovochymase 1							46.0	46.0	46.0					12																	29624906		1927	4121	6048	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29624906C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1685G>A	12.37:g.29624906C>T	ENSP00000326708:p.Gly562Asp					OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.G562D	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			16	1684	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		562						Missense_Mutation	SNP	ENST00000318184.5	37	c.1685G>A		.	.	.	.	.	.	.	.	.	.	C	16.96	3.266707	0.59540	.	.	ENSG00000187950	ENST00000318184	T	0.67523	-0.27	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.62780	0.2456	N	0.08118	0	0.36513	D	0.869735	D	0.89917	1.0	D	0.69654	0.965	T	0.72663	-0.4225	9	0.87932	D	0	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	562	Q7RTY7	OVCH1_HUMAN	D	562	ENSP00000326708:G562D	ENSP00000326708:G562D	G	-	2	0	OVCH1	29516173	0.994000	0.37717	0.401000	0.26359	0.922000	0.55478	3.254000	0.51477	1.520000	0.48965	0.650000	0.86243	GGC		0.478	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		10	118	0	0	0	1	0	10	118				
G6PC3	92579	broad.mit.edu	37	17	42153230	42153230	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42153230T>G	ENST00000269097.4	+	6	1091	c.860T>G	c.(859-861)cTt>cGt	p.L287R		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	287					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATAGCCTGCCTTGTGCTGGCC	0.622																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(859-861)cTt>cGt		glucose 6 phosphatase, catalytic, 3							63.0	61.0	62.0					17																	42153230		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153230T>G	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.860T>G	17.37:g.42153230T>G	ENSP00000269097:p.Leu287Arg						p.L287R	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1091	+		Breast(137;0.00637)|Prostate(33;0.0313)	287					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.860T>G	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668251	0.47677	.	.	ENSG00000141349	ENST00000269097	T	0.79454	-1.27	5.18	5.18	0.71444	.	0.411941	0.23644	N	0.045981	T	0.66538	0.2799	L	0.39898	1.24	0.09310	N	0.999999	P	0.37955	0.612	B	0.34722	0.188	T	0.64888	-0.6301	10	0.66056	D	0.02	-35.6274	7.593	0.28031	0.0:0.0926:0.0:0.9074	.	287	Q9BUM1	G6PC3_HUMAN	R	287	ENSP00000269097:L287R	ENSP00000269097:L287R	L	+	2	0	G6PC3	39508756	0.992000	0.36948	0.417000	0.26559	0.684000	0.39900	4.629000	0.61290	2.181000	0.69327	0.533000	0.62120	CTT		0.622	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		98	413	0	0	0	1	0	98	413				
DNM1	1759	broad.mit.edu	37	9	131008740	131008740	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131008740T>C	ENST00000372923.3	+	16	1831	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000341179.7_Missense_Mutation_p.M580T|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	580	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGGGCTTTATGTCGAGCAAG	0.557																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1738-1740)aTg>aCg		dynamin 1							210.0	152.0	172.0					9																	131008740		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008740T>C	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1739T>C	9.37:g.131008740T>C	ENSP00000362014:p.Met580Thr					DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T|DNM1_ENST00000372923.3_Missense_Mutation_p.M580T|DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T	p.M580T	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1831	+			580			PH.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1739T>C	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344371	0.61073	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.732920	0.02792	N	0.122157	D	0.84790	0.5550	M	0.89214	3.015	0.80722	D	1	B;B	0.22851	0.076;0.034	B;B	0.35073	0.195;0.123	T	0.67397	-0.5681	10	0.49607	T	0.09	-9.659	14.3359	0.66589	0.0:0.0:0.0:1.0	.	580;580	Q05193;Q05193-3	DYN1_HUMAN;.	T	580;580;580;575;580;580;125	ENSP00000419225:M580T;ENSP00000345680:M580T;ENSP00000362014:M580T;ENSP00000377219:M580T;ENSP00000420045:M580T	ENSP00000345680:M580T	M	+	2	0	DNM1	130048561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.728000	0.84847	1.972000	0.57404	0.408000	0.27601	ATG		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		68	266	0	0	0	1	0	68	266				
GSTA2	2939	broad.mit.edu	37	6	52622688	52622688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622688G>A	ENST00000493422.1	-	2	213	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	20	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	AGGAGCCACCGGATGGACTCC	0.488																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(58-60)Cgg>Tgg		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						114.0	109.0	110.0					6																	52622688		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52622688G>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.58C>T	6.37:g.52622688G>A	ENSP00000420168:p.Arg20Trp						p.R20W	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			2	213	-	Lung NSC(77;0.118)		20			GST N-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.58C>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527229	0.44969	.	.	ENSG00000244067	ENST00000493422	T	0.13196	2.61	2.81	2.81	0.32909	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	H	0.99777	4.77	0.49582	D	0.999809	D	0.89917	1.0	D	0.97110	1.0	T	0.73059	-0.4102	10	0.87932	D	0	.	12.7101	0.57083	0.0:0.0:1.0:0.0	.	20	P09210	GSTA2_HUMAN	W	20	ENSP00000420168:R20W	ENSP00000420168:R20W	R	-	1	2	GSTA2	52730647	1.000000	0.71417	0.958000	0.39756	0.329000	0.28539	3.367000	0.52350	1.317000	0.45149	0.184000	0.17185	CGG		0.488	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		29	413	0	0	0	1	0	29	413				
ATP5A1	498	broad.mit.edu	37	18	43669671	43669671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669671G>A	ENST00000398752.6	-	5	632	c.511C>T	c.(511-513)Cga>Tga	p.R171*	ATP5A1_ENST00000593152.2_Nonsense_Mutation_p.R121*|ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*|ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	171					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGACCAACTCGCCTACGCGTC	0.438																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(361-363)Cga>Tga		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							54.0	54.0	54.0					18																	43669671		2203	4300	6503	SO:0001587	stop_gained	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43669671G>A	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.511C>T	18.37:g.43669671G>A	ENSP00000381736:p.Arg171*					ATP5A1_ENST00000398752.6_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*	p.R121*	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			5	900	-			171					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Nonsense_Mutation	SNP	ENST00000398752.6	37	c.361C>T	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	41	8.968810	0.99019	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	.	.	.	5.16	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2256	10.5373	0.45011	0.0:0.0:0.5583:0.4417	.	.	.	.	X	171;171;121	.	ENSP00000282050:R171X	R	-	1	2	ATP5A1	41923669	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.120000	0.57897	2.411000	0.81874	0.563000	0.77884	CGA		0.438	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		66	313	0	0	0	1	0	66	313				
AKAP13	11214	broad.mit.edu	37	15	86125099	86125099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86125099G>A	ENST00000394518.2	+	7	3895	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1267					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGGCCGCTGGAGCACTGCTT	0.552																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3799-3801)gGa>gAa		A kinase (PRKA) anchor protein 13							58.0	55.0	56.0					15																	86125099		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86125099G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3800G>A	15.37:g.86125099G>A	ENSP00000378026:p.Gly1267Glu					AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E	p.G1267E	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3895	+			1267					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3800G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818539	0.32145	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.13538	2.58;2.58	5.53	1.48	0.22813	.	.	.	.	.	T	0.09862	0.0242	L	0.32530	0.975	0.09310	N	0.999999	B;B	0.24258	0.1;0.05	B;B	0.26770	0.033;0.073	T	0.32481	-0.9905	9	0.38643	T	0.18	.	4.7716	0.13158	0.2482:0.1669:0.5849:0.0	.	1267;1267	Q12802;Q12802-2	AKP13_HUMAN;.	E	1267;1267;1266;1266	ENSP00000354718:G1267E;ENSP00000378026:G1267E	ENSP00000354718:G1267E	G	+	2	0	AKAP13	83926103	0.394000	0.25246	0.009000	0.14445	0.004000	0.04260	0.557000	0.23454	0.652000	0.30806	0.655000	0.94253	GGA		0.552	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		42	172	0	0	0	1	0	42	172				
CSDE1	7812	broad.mit.edu	37	1	115269646	115269646	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115269646G>A	ENST00000358528.4	-	13	1848	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	CSDE1_ENST00000438362.2_Silent_p.A520A|CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000369530.1_Silent_p.A489A|CSDE1_ENST00000534699.1_Silent_p.A474A|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000261443.5_Silent_p.A443A|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	474	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCCTTGGCTTGAAAAG	0.388																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1558-1560)gcC>gcT		cold shock domain containing E1, RNA-binding							146.0	127.0	133.0					1																	115269646		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115269646G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1422C>T	1.37:g.115269646G>A						CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000369530.1_Silent_p.A489A|CSDE1_ENST00000261443.5_Silent_p.A443A|CSDE1_ENST00000358528.4_Silent_p.A474A|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000534699.1_Silent_p.A474A	p.A520A	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1938	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	474			CSD 7.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.1560C>T	CCDS30812.1																																																																																				0.388	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		63	247	0	0	0	1	0	63	247				
FASTK	10922	broad.mit.edu	37	7	150775933	150775933	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150775933C>T	ENST00000297532.6	-	3	758	c.681G>A	c.(679-681)ctG>ctA	p.L227L	FASTK_ENST00000482571.1_Intron|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	227					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CAGCACCTGCCAGGCTGCTGA	0.617																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(679-681)ctG>ctA		Fas-activated serine/threonine kinase							26.0	27.0	26.0					7																	150775933		2202	4299	6501	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775933C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.681G>A	7.37:g.150775933C>T						FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L	p.L227L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	3	758	-			227					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.681G>A	CCDS5918.1																																																																																				0.617	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		37	151	0	0	0	1	0	37	151				
PDLIM3	27295	broad.mit.edu	37	4	186423589	186423589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423589G>A	ENST00000284770.5	-	8	1027	c.954C>T	c.(952-954)ttC>ttT	p.F318F	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.F270F	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	318	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGGCACACACGAAGCACTCAG	0.532																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(952-954)ttC>ttT		PDZ and LIM domain 3							124.0	110.0	115.0					4																	186423589		2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186423589G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.954C>T	4.37:g.186423589G>A						PDLIM3_ENST00000284771.6_Silent_p.F270F|PDLIM3_ENST00000284767.5_3'UTR	p.F318F	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	8	1027	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	318			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.954C>T	CCDS3844.1																																																																																				0.532	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		58	495	0	0	0	1	0	58	495				
ZIC1	7545	broad.mit.edu	37	3	147128793	147128793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGGGCGAGAAGCCCT	0.557																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(892-894)ggC>ggT		Zic family member 1							94.0	97.0	96.0					3																	147128793		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128793C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.894C>T	3.37:g.147128793C>T							p.G298G	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1623	+			298					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.894C>T	CCDS3136.1																																																																																				0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		21	523	0	0	0	1	0	21	523				
TUBGCP4	27229	broad.mit.edu	37	15	43693986	43693986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43693986C>T	ENST00000260383.7	+	15	1926	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.R557*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	558					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAAAGCATCCGATTGGCTCA	0.423																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1669-1671)Cga>Tga		tubulin, gamma complex associated protein 4							135.0	127.0	129.0					15																	43693986		1907	4130	6037	SO:0001587	stop_gained	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43693986C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1672C>T	15.37:g.43693986C>T	ENSP00000260383:p.Arg558*					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.R558*	p.R557*	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	15	1909	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	558					B3KNK6|Q969X3|Q9NVF0	Nonsense_Mutation	SNP	ENST00000260383.7	37	c.1669C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.353226	0.99145	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.87	5.87	0.94306	.	0.126603	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.9544	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000260383:R557X	R	+	1	2	TUBGCP4	41481278	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.945000	0.56637	2.941000	0.99782	0.655000	0.94253	CGA		0.423	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		77	358	0	0	0	1	0	77	358				
KRT4	3851	broad.mit.edu	37	12	53207653	53207653	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53207653T>A	ENST00000551956.1	-	1	682	c.190A>T	c.(190-192)Agt>Tgt	p.S64C	KRT4_ENST00000293774.4_Missense_Mutation_p.S138C|KRT4_ENST00000458244.2_Intron			P19013	K2C4_HUMAN	keratin 4	64	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCAGCCACACTCATGGAGATG	0.582																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(412-414)Agt>Tgt		keratin 4							114.0	132.0	126.0					12																	53207653		2107	4249	6356	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207653T>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.190A>T	12.37:g.53207653T>A	ENSP00000448220:p.Ser64Cys					KRT4_ENST00000458244.2_Intron|KRT4_ENST00000551956.1_Missense_Mutation_p.S64C	p.S138C			B4DRS2	B4DRS2_HUMAN			1	682	-			64					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.412A>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670130	0.47677	.	.	ENSG00000170477	ENST00000551956;ENST00000293774	D;T	0.86956	-2.19;2.12	5.0	3.82	0.43975	.	0.000000	0.56097	D	0.000024	D	0.89455	0.6720	M	0.72894	2.215	0.58432	D	0.999995	.	.	.	.	.	.	D	0.88758	0.3255	8	0.72032	D	0.01	.	8.6374	0.33957	0.0:0.1648:0.0:0.8352	.	.	.	.	C	64;138	ENSP00000448220:S64C;ENSP00000293774:S138C	ENSP00000293774:S138C	S	-	1	0	KRT4	51493920	.	.	0.787000	0.31911	0.595000	0.36748	.	.	0.976000	0.38417	0.477000	0.44152	AGT		0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		213	926	0	0	0	1	0	213	926				
WDR33	55339	broad.mit.edu	37	2	128528552	128528552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528552C>T	ENST00000322313.4	-	2	162	c.4G>A	c.(4-6)Gct>Act	p.A2T	WDR33_ENST00000393006.1_Missense_Mutation_p.A2T|WDR33_ENST00000409658.3_Missense_Mutation_p.A2T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	2					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTGTAGCCATGGTGATG	0.408																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(4-6)Gct>Act		WD repeat domain 33							73.0	74.0	73.0					2																	128528552		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128528552C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.4G>A	2.37:g.128528552C>T	ENSP00000325377:p.Ala2Thr					WDR33_ENST00000393006.1_Missense_Mutation_p.A2T|WDR33_ENST00000409658.3_Missense_Mutation_p.A2T	p.A2T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	2	162	-	Colorectal(110;0.1)		2					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.4G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736203	0.89482	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.54	5.54	0.83059	.	0.101382	0.64402	D	0.000002	T	0.56381	0.1981	N	0.08118	0	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.74674	0.981;0.971;0.984	T	0.67133	-0.5747	10	0.87932	D	0	-10.2911	19.4948	0.95067	0.0:1.0:0.0:0.0	.	2;2;2	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	T	2	ENSP00000325377:A2T;ENSP00000376730:A2T;ENSP00000387186:A2T;ENSP00000386861:A2T	ENSP00000325377:A2T	A	-	1	0	WDR33	128245022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GCT		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		34	181	0	0	0	1	0	34	181				
N4BP2L2	10443	broad.mit.edu	37	13	33017510	33017510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017510C>T	ENST00000504114.1	-	6	1210	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCCTGCAGGCCAGCTACCAA	0.423																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1117-1119)tgG>tgA		NEDD4 binding protein 2-like 2							77.0	74.0	75.0					13																	33017510		1855	4100	5955	SO:0001587	stop_gained	10443							g.chr13:33017510C>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1119G>A	13.37:g.33017510C>T	ENSP00000427477:p.Trp373*					N4BP2L2_ENST00000504114.1_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*	p.W373*	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1223	-		Lung SC(185;0.0262)	0					A3KME8	Nonsense_Mutation	SNP	ENST00000504114.1	37	c.1119G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.562807	0.97667	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.61	4.77	0.60923	.	0.509941	0.20334	N	0.094363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3345	12.0509	0.53505	0.0:0.9203:0.0:0.0797	.	.	.	.	X	271;300;373;373;388	.	.	W	-	3	0	N4BP2L2;RP11-298P3.4	31915510	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	1.719000	0.38011	1.368000	0.46115	0.650000	0.86243	TGG		0.423	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		44	314	0	0	0	1	0	44	314				
TRUB1	142940	broad.mit.edu	37	10	116710908	116710908	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116710908G>A	ENST00000298746.3	+	3	502	c.441G>A	c.(439-441)aaG>aaA	p.K147K	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	147					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAGGGTCCAAGGTAAGAATAC	0.303																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.e3+1		TruB pseudouridine (psi) synthase family member 1							184.0	187.0	186.0					10																	116710908		2203	4300	6503	SO:0001630	splice_region_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116710908G>A	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.441+1G>A	10.37:g.116710908G>A						TRUB1_ENST00000485065.1_3'UTR	p.K147_splice	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	3	502	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	147					B2R716|Q53ES2	Splice_Site	SNP	ENST00000298746.3	37	c.441_splice	CCDS7591.1																																																																																				0.303	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169	Silent	34	441	0	0	0	1	0	34	441				
UROC1	131669	broad.mit.edu	37	3	126208217	126208217	+	Splice_Site	SNP	G	G	A	rs371222476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126208217G>A	ENST00000290868.2	-	17	1663	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	UROC1_ENST00000383579.3_Splice_Site_p.A597V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	537					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)		GACCACCGGCGCCTGTGCATG	0.592																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.e17-1		urocanate hydratase 1		G	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	90.0	80.0	83.0		1790,1610	4.6	1.0	3		83	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	UROC1	NM_001165974.1,NM_144639.2	64,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	597/737,537/677	126208217	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126208217G>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.1609-1C>T	3.37:g.126208217G>A						UROC1_ENST00000383579.3_Splice_Site_p.A597_splice	p.A537_splice	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	17	1663	-			537					E9PE13|Q14C64|Q68CJ7	Splice_Site	SNP	ENST00000290868.2	37	c.1608_splice	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902816	0.72754	4.54E-4	0.0	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.55930	0.49;0.49	4.59	4.59	0.56863	Urocanase domain (2);	0.052993	0.85682	D	0.000000	T	0.77096	0.4080	H	0.94462	3.54	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.66979	0.867;0.948	T	0.82884	-0.0236	10	0.87932	D	0	-21.838	11.2004	0.48739	0.0:0.1864:0.8136:0.0	.	597;537	E9PE13;Q96N76	.;HUTU_HUMAN	V	537;597	ENSP00000290868:A537V;ENSP00000373073:A597V	ENSP00000290868:A537V	A	-	2	0	UROC1	127690907	1.000000	0.71417	0.962000	0.40283	0.717000	0.41224	6.627000	0.74258	2.247000	0.74100	0.491000	0.48974	GCG		0.592	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	Missense_Mutation	68	346	0	0	0	1	0	68	346				
FER1L6	654463	broad.mit.edu	37	8	124992756	124992756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124992756G>A	ENST00000522917.1	+	11	1321	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K	FER1L6_ENST00000399018.1_Missense_Mutation_p.R372K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	372						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCTCGCCCAGGAACCACAGT	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1114-1116)aGg>aAg		fer-1-like 6 (C. elegans)							102.0	104.0	103.0					8																	124992756		1876	4093	5969	SO:0001583	missense	654463					integral to membrane		g.chr8:124992756G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1115G>A	8.37:g.124992756G>A	ENSP00000428280:p.Arg372Lys		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538	FER1L6_ENST00000399018.1_Missense_Mutation_p.R372K	p.R372K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		11	1321	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		372						Missense_Mutation	SNP	ENST00000522917.1	37	c.1115G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099226	0.94197	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82803	-1.65;-1.65	5.53	5.53	0.82687	C2 calcium/lipid-binding domain, CaLB (1);	0.073530	0.52532	U	0.000064	D	0.90369	0.6986	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88672	0.3196	10	0.36615	T	0.2	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	372	Q2WGJ9	FR1L6_HUMAN	K	372	ENSP00000428280:R372K;ENSP00000381982:R372K	ENSP00000381982:R372K	R	+	2	0	FER1L6	125061937	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.813000	0.99286	2.607000	0.88179	0.655000	0.94253	AGG		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		29	582	0	0	0	1	0	29	582				
GEMIN2	8487	broad.mit.edu	37	14	39587259	39587259	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39587259G>A	ENST00000308317.6	+	3	395	c.312G>A	c.(310-312)caG>caA	p.Q104Q	GEMIN2_ENST00000250379.8_Silent_p.Q104Q|GEMIN2_ENST00000396249.2_Silent_p.Q104Q	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	104	Poly-Gln.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											AATGGCAACAGCAACAAGTGG	0.408																																						ENST00000308317.6																			0											c.(310-312)caG>caA		gem (nuclear organelle) associated protein 2							68.0	65.0	66.0					14																	39587259		2203	4300	6503	SO:0001819	synonymous_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39587259G>A	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.312G>A	14.37:g.39587259G>A						GEMIN2_ENST00000250379.8_Silent_p.Q104Q|GEMIN2_ENST00000396249.2_Silent_p.Q104Q	p.Q104Q	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			3	395	+			104			Poly-Gln.		B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Silent	SNP	ENST00000308317.6	37	c.312G>A	CCDS9669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.217|9.217	1.032459|1.032459	0.19590|0.19590	.|.	.|.	ENSG00000092208|ENSG00000092208	ENST00000534684|ENST00000527381	.|.	.|.	.|.	6.03|6.03	1.83|1.83	0.25207|0.25207	.|.	.|.	.|.	.|.	.|.	T|T	0.57902|0.57902	0.2085|0.2085	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51028|0.51028	-0.8757|-0.8757	4|4	.|.	.|.	.|.	-10.9514|-10.9514	9.2489|9.2489	0.37543|0.37543	0.4772:0.0:0.5228:0.0|0.4772:0.0:0.5228:0.0	.|.	.|.	.|.	.|.	T|N	99|93	.|.	.|.	A|S	+|+	1|2	0|0	GEMIN2|GEMIN2	38657010|38657010	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.338000|0.338000	0.19858|0.19858	0.339000|0.339000	0.23719|0.23719	-0.365000|-0.365000	0.07479|0.07479	GCA|AGC		0.408	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2			28	143	0	0	0	1	0	28	143				
ALPK3	57538	broad.mit.edu	37	15	85401163	85401163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85401163G>A	ENST00000258888.5	+	6	3967	c.3800G>A	c.(3799-3801)gGt>gAt	p.G1267D		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1267					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGGGTCCTGGTCCCAGCTCC	0.682																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3799-3801)gGt>gAt		alpha-kinase 3							19.0	15.0	16.0					15																	85401163		2200	4290	6490	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401163G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3800G>A	15.37:g.85401163G>A	ENSP00000258888:p.Gly1267Asp						p.G1267D	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3967	+			1267					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3800G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896135	0.17686	.	.	ENSG00000136383	ENST00000258888	T	0.61980	0.06	4.87	-0.919	0.10478	.	1.130040	0.06420	N	0.722229	T	0.45296	0.1335	L	0.32530	0.975	0.09310	N	1	P	0.48911	0.917	P	0.46049	0.502	T	0.35051	-0.9804	10	0.07644	T	0.81	-1.6914	1.0785	0.01638	0.1812:0.1478:0.3685:0.3026	.	1267	Q96L96	ALPK3_HUMAN	D	1267	ENSP00000258888:G1267D	ENSP00000258888:G1267D	G	+	2	0	ALPK3	83202167	0.000000	0.05858	0.013000	0.15412	0.029000	0.11900	-0.367000	0.07553	0.107000	0.17824	0.563000	0.77884	GGT		0.682	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		19	88	0	0	0	1	0	19	88				
ABHD14A	25864	broad.mit.edu	37	3	52014483	52014483	+	Missense_Mutation	SNP	C	C	T	rs147658919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52014483C>T	ENST00000273596.3	+	4	540	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476351.1_5'Flank|ACY1_ENST00000404366.2_5'Flank|ACY1_ENST00000494103.1_5'Flank|ABHD14A_ENST00000491470.1_Intron|ACY1_ENST00000476854.1_5'Flank	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	158						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCGCTGCGGGACCTGGA	0.627																																						ENST00000273596.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6						c.(472-474)Cgg>Tgg		abhydrolase domain containing 14A		C	TRP/ARG	0,4406		0,0,2203	59.0	59.0	59.0		472	3.9	0.0	3	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABHD14A	NM_015407.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	158/272	52014483	1,13005	2203	4300	6503	SO:0001583	missense	25864					cytoplasm|integral to membrane	hydrolase activity	g.chr3:52014483C>T	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.472C>T	3.37:g.52014483C>T	ENSP00000273596:p.Arg158Trp					ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14A_ENST00000491470.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron	p.R158W	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	540	+			158					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.472C>T	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152146	0.38021	0.0	1.16E-4	ENSG00000248487	ENST00000497864;ENST00000273596;ENST00000360889;ENST00000538216	T;T	0.35973	1.28;1.92	5.69	3.86	0.44501	.	0.985990	0.08284	N	0.969485	T	0.49525	0.1562	M	0.81682	2.555	0.51012	D	0.9999	D	0.63880	0.993	P	0.51229	0.663	T	0.44559	-0.9320	10	0.72032	D	0.01	-0.6127	5.0677	0.14591	0.1396:0.6:0.182:0.0784	.	158	Q9BUJ0	ABHEA_HUMAN	W	223;158;116;116	ENSP00000418242:R223W;ENSP00000273596:R158W	ENSP00000273596:R158W	R	+	1	2	ABHD14A	51989523	0.273000	0.24181	0.017000	0.16124	0.110000	0.19582	0.976000	0.29462	0.678000	0.31325	-0.251000	0.11542	CGG		0.627	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		106	386	0	0	0	1	0	106	386				
ZNF749	388567	broad.mit.edu	37	19	57956804	57956804	+	Missense_Mutation	SNP	A	A	C	rs541490509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956804A>C	ENST00000334181.4	+	3	2538	c.2288A>C	c.(2287-2289)aAc>aCc	p.N763T	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	763					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTTAAATACAACTCCAGCCTC	0.408																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2287-2289)aAc>aCc		zinc finger protein 749							94.0	99.0	97.0					19																	57956804		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956804A>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2288A>C	19.37:g.57956804A>C	ENSP00000333980:p.Asn763Thr					AC004076.9_ENST00000596831.1_Intron	p.N763T	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2538	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	763						Missense_Mutation	SNP	ENST00000334181.4	37	c.2288A>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	-	7.354	0.623424	0.14193	.	.	ENSG00000186230	ENST00000334181	T	0.01572	4.76	1.22	-0.00992	0.13998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.35487	1.065	0.09310	N	1	B	0.17852	0.024	B	0.18263	0.021	T	0.49244	-0.8960	9	0.20046	T	0.44	.	2.5274	0.04695	0.3435:0.2964:0.3602:0.0	.	763	O43361	ZN749_HUMAN	T	763	ENSP00000333980:N763T	ENSP00000333980:N763T	N	+	2	0	ZNF749	62648616	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.267000	0.01170	-0.063000	0.13065	0.172000	0.16884	AAC		0.408	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		71	378	0	0	0	1	0	71	378				
PCDHB15	56121	broad.mit.edu	37	5	140627467	140627467	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627467T>G	ENST00000231173.3	+	1	2321	c.2321T>G	c.(2320-2322)aTt>aGt	p.I774S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	774					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCCAAATATTGTAAGCCAG	0.443																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2320-2322)aTt>aGt									84.0	93.0	90.0					5																	140627467		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627467T>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2321T>G	5.37:g.140627467T>G	ENSP00000231173:p.Ile774Ser						p.I774S	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2321	+			774					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2321T>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	8.494	0.862678	0.17178	.	.	ENSG00000113248	ENST00000231173	T	0.13657	2.57	4.39	0.331	0.15933	.	.	.	.	.	T	0.10895	0.0266	L	0.47078	1.49	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31251	-0.9950	9	0.49607	T	0.09	.	3.6539	0.08213	0.1313:0.0786:0.1362:0.6539	.	774	Q9Y5E8	PCDBF_HUMAN	S	774	ENSP00000231173:I774S	ENSP00000231173:I774S	I	+	2	0	PCDHB15	140607651	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	0.505000	0.22642	0.154000	0.19237	0.454000	0.30748	ATT		0.443	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		162	611	0	0	0	1	0	162	611				
PKD2	5311	broad.mit.edu	37	4	88959637	88959637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88959637C>T	ENST00000237596.2	+	4	1144	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCCCTTTGGGCCCCGAAATGG	0.453																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1078-1080)Ccc>Tcc		polycystic kidney disease 2 (autosomal dominant)							89.0	91.0	90.0					4																	88959637		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88959637C>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1078C>T	4.37:g.88959637C>T	ENSP00000237596:p.Pro360Ser						p.P360S	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	4	1144	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	360					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1078C>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669219	0.14776	.	.	ENSG00000118762	ENST00000237596	T	0.69435	-0.4	5.75	5.75	0.90469	Polycystin cation channel, PKD1/PKD2 (1);	0.163462	0.56097	D	0.000032	T	0.65439	0.2691	L	0.38838	1.175	0.80722	D	1	B	0.25772	0.134	B	0.36885	0.235	T	0.58880	-0.7558	10	0.30854	T	0.27	-8.2264	19.9598	0.97242	0.0:1.0:0.0:0.0	.	360	Q13563	PKD2_HUMAN	S	360	ENSP00000237596:P360S	ENSP00000237596:P360S	P	+	1	0	PKD2	89178661	0.929000	0.31497	0.277000	0.24703	0.970000	0.65996	5.836000	0.69375	2.716000	0.92895	0.655000	0.94253	CCC		0.453	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		72	331	0	0	0	1	0	72	331				
TACR3	6870	broad.mit.edu	37	4	104577398	104577398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104577398C>A	ENST00000304883.2	-	3	981	c.841G>T	c.(841-843)Gga>Tga	p.G281*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	281					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGGTATCTCCTGGGATTTCT	0.403																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(841-843)Gga>Tga		tachykinin receptor 3							139.0	138.0	138.0					4																	104577398		2203	4300	6503	SO:0001587	stop_gained	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104577398C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.841G>T	4.37:g.104577398C>A	ENSP00000303325:p.Gly281*						p.G281*	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	3	981	-		Hepatocellular(203;0.217)	281					Q0P510	Nonsense_Mutation	SNP	ENST00000304883.2	37	c.841G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817814	0.98507	.	.	ENSG00000169836	ENST00000304883	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.7975	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000303325:G281X	G	-	1	0	TACR3	104796847	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.837000	0.75354	2.745000	0.94114	0.650000	0.86243	GGA		0.403	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		96	401	1	0	1.16068e-44	1	1.42057e-44	96	401				
KMT2C	58508	broad.mit.edu	37	7	151842259	151842259	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151842259T>C	ENST00000262189.6	-	54	14371	c.14153A>G	c.(14152-14154)cAt>cGt	p.H4718R	KMT2C_ENST00000355193.2_Missense_Mutation_p.H4775R|KMT2C_ENST00000485655.2_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4718					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTCTTGACATGGGCACTCAT	0.443																																						ENST00000355193.2																			0											c.(14323-14325)cAt>cGt		lysine (K)-specific methyltransferase 2C							92.0	84.0	87.0					7																	151842259		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151842259T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14153A>G	7.37:g.151842259T>C	ENSP00000262189:p.His4718Arg					KMT2C_ENST00000262189.6_Missense_Mutation_p.H4718R	p.H4775R							55	14542	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.14324A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189627	0.57909	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88741	-1.76;-1.74;-2.42	5.34	5.34	0.76211	.	0.000000	0.46145	U	0.000304	D	0.90366	0.6985	L	0.38838	1.175	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	P;P;P	0.62184	0.852;0.899;0.899	D	0.89704	0.3907	10	0.36615	T	0.2	.	15.6055	0.76668	0.0:0.0:0.0:1.0	.	4718;3836;4775	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	R	4718;4775;1335	ENSP00000262189:H4718R;ENSP00000347325:H4775R;ENSP00000410411:H1335R	ENSP00000262189:H4718R	H	-	2	0	MLL3	151473192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.257000	0.72480	2.152000	0.67230	0.533000	0.62120	CAT		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			74	312	0	0	0	1	0	74	312				
AP2B1	163	broad.mit.edu	37	17	34044364	34044364	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34044364A>G	ENST00000262325.7	+	20	3288	c.2735A>G	c.(2734-2736)tAc>tGc	p.Y912C	AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C|AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	912	Interaction with ARRB1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACCCCAATTACACGGTAAGG	0.498																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2734-2736)tAc>tGc		adaptor-related protein complex 2, beta 1 subunit							97.0	87.0	91.0					17																	34044364		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34044364A>G	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2735A>G	17.37:g.34044364A>G	ENSP00000262325:p.Tyr912Cys					AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C|AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C|AP2B1_ENST00000545922.2_3'UTR	p.Y912C	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	20	3288	+		Ovarian(249;0.17)	912			Interaction with ARRB1.		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2735A>G	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742860	0.49151	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.36157	1.53;1.54;1.27;1.54	5.72	5.72	0.89469	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.12182	0.205	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.005;0.009	P;B;B;B	0.56042	0.79;0.01;0.01;0.006	T	0.14172	-1.0482	10	0.25751	T	0.34	-13.2416	15.4767	0.75485	1.0:0.0:0.0:0.0	.	663;888;912;926	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	C	912;926;855;926;663	ENSP00000262325:Y912C;ENSP00000314414:Y926C;ENSP00000440563:Y855C;ENSP00000437413:Y926C	ENSP00000262325:Y912C	Y	+	2	0	AP2B1	31068477	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	6.181000	0.71988	2.304000	0.77564	0.528000	0.53228	TAC		0.498	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			7	433	0	0	0	1	0	7	433				
C7orf25	79020	broad.mit.edu	37	7	42949837	42949837	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949837C>T	ENST00000350427.4	-	2	938	c.663G>A	c.(661-663)caG>caA	p.Q221Q	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Silent_p.Q221Q|C7orf25_ENST00000447342.1_Silent_p.Q221Q|C7orf25_ENST00000431882.2_Silent_p.Q279Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	221										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTCTGGTCACCTGCAAAAGTT	0.433																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(661-663)caG>caA		chromosome 7 open reading frame 25							71.0	72.0	72.0					7																	42949837		2203	4300	6503	SO:0001819	synonymous_variant	79020							g.chr7:42949837C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.663G>A	7.37:g.42949837C>T						C7orf25_ENST00000431882.2_Silent_p.Q279Q|C7orf25_ENST00000438029.1_Silent_p.Q221Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.Q221Q	p.Q221Q			Q9BPX7	CG025_HUMAN			2	938	-			221					A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	c.663G>A	CCDS5466.1																																																																																				0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		58	240	0	0	0	1	0	58	240				
MIR412	574433	broad.mit.edu	37	14	101531679	101531679	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101531679C>T	ENST00000362142.2	+	0	0				MIR656_ENST00000385224.1_RNA|MIR410_ENST00000362222.2_RNA|MIR369_ENST00000362155.3_RNA|MIR541_ENST00000401360.1_RNA|MIR409_ENST00000362237.1_RNA	NR_030155.1				microRNA 412																		TGCATCTGGACGACGAATGTT	0.587																																						ENST00000362237.1																			0																				65.0	65.0	65.0					14																	101531679		1568	3582	5150			0							g.chr14:101531679C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101531679C>T								NR_029975.1						0	43	+									RNA	SNP	ENST00000362142.2	37																																																																																						0.587	MIR412-201	KNOWN	basic	miRNA	miRNA		NR_030155		63	265	0	0	0	1	0	63	265				
SLC7A13	157724	broad.mit.edu	37	8	87229945	87229945	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87229945C>T	ENST00000297524.3	-	3	1036	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC7A13_ENST00000419776.2_Silent_p.S302S|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	311						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATTGGTCTCGATGATTTAA	0.388																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(931-933)tcG>tcA		solute carrier family 7 (anionic amino acid transporter), member 13							84.0	97.0	93.0					8																	87229945		2203	4297	6500	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229945C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.933G>A	8.37:g.87229945C>T						SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.S302S	p.S311S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			3	1036	-			311					Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.933G>A	CCDS34917.1																																																																																				0.388	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		109	568	0	0	0	1	0	109	568				
ABHD17B	51104	broad.mit.edu	37	9	74481776	74481776	+	Missense_Mutation	SNP	T	T	G	rs554947530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74481776T>G	ENST00000333421.6	-	4	905	c.794A>C	c.(793-795)aAt>aCt	p.N265T	ABHD17B_ENST00000377041.2_Missense_Mutation_p.N265T	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	265						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TTCCACATCATTGTGACCTGC	0.418																																						ENST00000333421.6																			0											c.(793-795)aAt>aCt		abhydrolase domain containing 17B							84.0	77.0	79.0					9																	74481776		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74481776T>G	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.794A>C	9.37:g.74481776T>G	ENSP00000330222:p.Asn265Thr					ABHD17B_ENST00000377041.2_Missense_Mutation_p.N265T	p.N265T	NM_001025780.1	NP_001020951.1					4	905	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.794A>C	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.727600	0.69074	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.22945	1.93;1.93	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.87827	2.91	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.953	T	0.62067	-0.6932	10	0.49607	T	0.09	-0.0092	16.07	0.80919	0.0:0.0:0.0:1.0	.	265;265	Q5VST6;Q5VST6-2	F108B_HUMAN;.	T	265	ENSP00000366240:N265T;ENSP00000330222:N265T	ENSP00000330222:N265T	N	-	2	0	FAM108B1	73671596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.920000	0.87521	2.254000	0.74563	0.533000	0.62120	AAT		0.418	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		74	335	0	0	0	1	0	74	335				
TBX21	30009	broad.mit.edu	37	17	45811195	45811195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45811195C>T	ENST00000177694.1	+	1	586	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	125					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTGAGGACTACGCGCTACCCG	0.692																																						ENST00000177694.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(373-375)taC>taT		T-box 21							11.0	13.0	12.0					17																	45811195		1874	4094	5968	SO:0001819	synonymous_variant	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45811195C>T	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.375C>T	17.37:g.45811195C>T							p.Y125Y	NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN			1	586	+			125						Silent	SNP	ENST00000177694.1	37	c.375C>T	CCDS11514.1																																																																																				0.692	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		21	70	0	0	0	1	0	21	70				
DNAH3	55567	broad.mit.edu	37	16	21098312	21098312	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21098312T>G	ENST00000261383.3	-	19	2734	c.2735A>C	c.(2734-2736)aAa>aCa	p.K912T	DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	912	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGATCAGTTTATACGTTGT	0.463																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2734-2736)aAa>aCa		dynein, axonemal, heavy chain 3							245.0	220.0	229.0					16																	21098312		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21098312T>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2735A>C	16.37:g.21098312T>G	ENSP00000261383:p.Lys912Thr					DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	p.K912T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	19	2734	-			912			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2735A>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255099	0.59321	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63417	-0.04;-0.04	5.58	5.58	0.84498	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84403	0.0561	10	0.66056	D	0.02	.	15.7487	0.77967	0.0:0.0:0.0:1.0	.	912	Q8TD57	DYH3_HUMAN	T	912	ENSP00000261383:K912T;ENSP00000394245:K912T	ENSP00000261383:K912T	K	-	2	0	DNAH3	21005813	1.000000	0.71417	0.582000	0.28627	0.133000	0.20885	7.576000	0.82467	2.126000	0.65437	0.533000	0.62120	AAA		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		160	689	0	0	0	1	0	160	689				
GPR116	221395	broad.mit.edu	37	6	46856207	46856207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46856207C>T	ENST00000283296.7	-	4	481	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GPR116_ENST00000265417.7_Missense_Mutation_p.V65I|GPR116_ENST00000362015.4_Missense_Mutation_p.V65I|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.V65I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	65					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCAATATTAACAGTGTATTCT	0.413																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(193-195)Gtt>Att		G protein-coupled receptor 116							139.0	128.0	131.0					6																	46856207		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46856207C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.193G>A	6.37:g.46856207C>T	ENSP00000283296:p.Val65Ile					GPR116_ENST00000362015.4_Missense_Mutation_p.V65I|GPR116_ENST00000456426.2_Missense_Mutation_p.V65I|GPR116_ENST00000265417.7_Missense_Mutation_p.V65I	p.V65I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		4	481	-			65					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.193G>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	5.472	0.272212	0.10349	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.28666	1.6;1.99;1.61;1.6	5.66	2.36	0.29203	.	0.224788	0.30311	N	0.009918	T	0.05135	0.0137	N	0.20986	0.625	0.21445	N	0.99968	B;B;B	0.12013	0.002;0.005;0.002	B;B;B	0.14023	0.002;0.01;0.002	T	0.37126	-0.9719	10	0.16420	T	0.52	-12.8691	4.0781	0.09914	0.0:0.5774:0.1901:0.2325	.	65;65;65	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	I	65	ENSP00000283296:V65I;ENSP00000354563:V65I;ENSP00000412866:V65I;ENSP00000265417:V65I	ENSP00000265417:V65I	V	-	1	0	GPR116	46964166	0.196000	0.23350	0.196000	0.23383	0.143000	0.21401	0.543000	0.23237	0.821000	0.34540	-0.137000	0.14449	GTT		0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		78	316	0	0	0	1	0	78	316				
RFPL4B	442247	broad.mit.edu	37	6	112671386	112671386	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112671386C>T	ENST00000441065.2	+	3	788	c.476C>T	c.(475-477)tCc>tTc	p.S159F	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	159	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGTCATGGTCCCTGGGCGTC	0.547																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(475-477)tCc>tTc		ret finger protein-like 4B							71.0	75.0	74.0					6																	112671386		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671386C>T	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.476C>T	6.37:g.112671386C>T	ENSP00000423391:p.Ser159Phe						p.S159F	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	788	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	159			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.476C>T	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552209	0.45487	.	.	ENSG00000251258	ENST00000441065	T	0.70282	-0.47	4.14	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.779066	0.10503	N	0.667099	T	0.52008	0.1708	L	0.35487	1.065	0.09310	N	1	D	0.62365	0.991	P	0.56163	0.793	T	0.33979	-0.9847	10	0.26408	T	0.33	.	5.4047	0.16314	0.1975:0.7003:0.0:0.1021	.	159	Q6ZWI9	RFPLB_HUMAN	F	159	ENSP00000423391:S159F	ENSP00000423391:S159F	S	+	2	0	RFPL4B	112778079	0.000000	0.05858	0.043000	0.18650	0.064000	0.16182	0.069000	0.14552	1.342000	0.45619	0.655000	0.94253	TCC		0.547	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		49	291	0	0	0	1	0	49	291				
PCOLCE2	26577	broad.mit.edu	37	3	142537272	142537272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142537272C>T	ENST00000295992.3	-	9	1459	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PCOLCE2_ENST00000485766.1_3'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	385	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTCGCCCATCTTCACCTACT	0.353																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1153-1155)Gat>Aat		procollagen C-endopeptidase enhancer 2							114.0	106.0	109.0					3																	142537272		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142537272C>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.1153G>A	3.37:g.142537272C>T	ENSP00000295992:p.Asp385Asn					PCOLCE2_ENST00000485766.1_3'UTR	p.D385N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			9	1459	-			385			NTR.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.1153G>A	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004047	0.93287	.	.	ENSG00000163710	ENST00000295992	T	0.30981	1.51	5.06	5.06	0.68205	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.099828	0.64402	D	0.000002	T	0.31482	0.0798	L	0.48642	1.525	0.80722	D	1	B	0.19583	0.037	B	0.28305	0.088	T	0.09271	-1.0682	10	0.16420	T	0.52	-22.7218	18.4156	0.90568	0.0:1.0:0.0:0.0	.	385	Q9UKZ9	PCOC2_HUMAN	N	385	ENSP00000295992:D385N	ENSP00000295992:D385N	D	-	1	0	PCOLCE2	144019962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.978000	0.76147	2.351000	0.79841	0.655000	0.94253	GAT		0.353	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		96	356	0	0	0	1	0	96	356				
DNAI1	27019	broad.mit.edu	37	9	34506735	34506735	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34506735C>A	ENST00000242317.4	+	13	1345	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	392					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCTCGACATCCACGTGGACCA	0.592									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1174-1176)Cac>Aac		dynein, axonemal, intermediate chain 1							97.0	82.0	87.0					9																	34506735		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34506735C>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1174C>A	9.37:g.34506735C>A	ENSP00000242317:p.His392Asn						p.H392N	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	13	1345	+	all_epithelial(49;0.244)		392					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1174C>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820800	0.71028	.	.	ENSG00000122735	ENST00000242317	T	0.69806	-0.43	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	M	0.79805	2.47	0.80722	D	1	B	0.25169	0.119	B	0.34590	0.186	T	0.69643	-0.5090	10	0.31617	T	0.26	.	16.1296	0.81418	0.0:1.0:0.0:0.0	.	392	Q9UI46	DNAI1_HUMAN	N	392	ENSP00000242317:H392N	ENSP00000242317:H392N	H	+	1	0	DNAI1	34496735	1.000000	0.71417	0.953000	0.39169	0.409000	0.31022	7.298000	0.78815	2.478000	0.83669	0.563000	0.77884	CAC		0.592	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			55	288	1	0	3.89483e-19	1	4.33865e-19	55	288				
SLX4	84464	broad.mit.edu	37	16	3639877	3639877	+	Silent	SNP	C	C	T	rs3810814	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3639877C>T	ENST00000294008.3	-	12	4402	c.3762G>A	c.(3760-3762)tcG>tcA	p.S1254S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1254	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCACCAGCCACGAGGTGTCTG	0.677								Direct reversal of damage					C|||	6	0.00119808	0.0	0.0	5008	,	,		13227	0.006		0.0	False		,,,				2504	0.0					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3760-3762)tcG>tcA	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		C		1,4391		0,1,2195	30.0	36.0	34.0		3762	-12.1	0.0	16	dbSNP_107	34	0,8592		0,0,4296	no	coding-synonymous	SLX4	NM_032444.2		0,1,6491	TT,TC,CC		0.0,0.0228,0.0077		1254/1835	3639877	1,12983	2196	4296	6492	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639877C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3762G>A	16.37:g.3639877C>T							p.S1254S	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4402	-			1254			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.3762G>A	CCDS10506.2																																																																																				0.677	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		111	426	0	0	0	1	0	111	426				
KCNG4	93107	broad.mit.edu	37	16	84256170	84256170	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84256170T>C	ENST00000308251.4	-	3	1281	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	405					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGGCGGGGATGCTGGTGAAC	0.647																																						ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1213-1215)Atc>Gtc		potassium voltage-gated channel, subfamily G, member 4							28.0	27.0	27.0					16																	84256170		2199	4299	6498	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256170T>C	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1213A>G	16.37:g.84256170T>C	ENSP00000312129:p.Ile405Val						p.I405V	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1281	-			405					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1213A>G	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683031	0.47991	.	.	ENSG00000168418	ENST00000308251	D	0.98455	-4.94	5.61	5.61	0.85477	Ion transport (1);	0.046703	0.85682	D	0.000000	D	0.96614	0.8895	L	0.55743	1.74	0.80722	D	1	P	0.35107	0.484	B	0.38225	0.268	D	0.95789	0.8823	10	0.66056	D	0.02	.	9.4757	0.38869	0.0:0.0783:0.0:0.9217	.	405	Q8TDN1	KCNG4_HUMAN	V	405	ENSP00000312129:I405V	ENSP00000312129:I405V	I	-	1	0	KCNG4	82813671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.232000	0.58645	2.127000	0.65507	0.533000	0.62120	ATC		0.647	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		24	274	0	0	0	1	0	24	274				
CCDC91	55297	broad.mit.edu	37	12	28459812	28459812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28459812G>A	ENST00000545336.1	+	8	824	c.405G>A	c.(403-405)caG>caA	p.Q135Q	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Silent_p.Q135Q|CCDC91_ENST00000381256.1_Silent_p.Q135Q|CCDC91_ENST00000306172.5_Silent_p.Q105Q|CCDC91_ENST00000539107.1_Silent_p.Q135Q			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	135					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TACAGCTTCAGCAAAAAATTT	0.328																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(403-405)caG>caA		coiled-coil domain containing 91							68.0	71.0	70.0					12																	28459812		2203	4300	6503	SO:0001819	synonymous_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459812G>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.405G>A	12.37:g.28459812G>A						CCDC91_ENST00000381259.1_Silent_p.Q135Q|CCDC91_ENST00000539107.1_Silent_p.Q135Q|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Silent_p.Q135Q|CCDC91_ENST00000306172.5_Silent_p.Q105Q	p.Q135Q			Q7Z6B0	CCD91_HUMAN			8	824	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		135					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Silent	SNP	ENST00000545336.1	37	c.405G>A	CCDS8716.1																																																																																				0.328	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		10	291	0	0	0	1	0	10	291				
MYT1	4661	broad.mit.edu	37	20	62868708	62868708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62868708G>A	ENST00000328439.1	+	21	3422	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	MYT1_ENST00000536311.1_Missense_Mutation_p.E1047K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GTCCAACTCGGAGATGGAGGC	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3139-3141)Gag>Aag		myelin transcription factor 1							63.0	50.0	54.0					20																	62868708		2202	4296	6498	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62868708G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3058G>A	20.37:g.62868708G>A	ENSP00000327465:p.Glu1020Lys					MYT1_ENST00000328439.1_Missense_Mutation_p.E1020K	p.E1047K			Q01538	MYT1_HUMAN			21	3503	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1020					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.3139G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247965	0.80024	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39397	1.21	0.80722	D	1	D;B	0.76494	0.999;0.22	D;B	0.80764	0.994;0.052	T	0.36261	-0.9755	10	0.06099	T	0.92	-26.8619	19.7607	0.96316	0.0:0.0:1.0:0.0	.	1047;1020	F5H7M8;Q01538	.;MYT1_HUMAN	K	1020;1047	ENSP00000327465:E1020K;ENSP00000442412:E1047K	ENSP00000327465:E1020K	E	+	1	0	MYT1	62339152	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	6.520000	0.73773	2.686000	0.91538	0.561000	0.74099	GAG		0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		12	54	0	0	0	1	0	12	54				
DPF2	5977	broad.mit.edu	37	11	65113213	65113213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113213C>T	ENST00000528416.1	+	7	847	c.714C>T	c.(712-714)ggC>ggT	p.G238G	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Silent_p.G252G|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	238					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AGGAGGAGGGCGAGGACAAGG	0.527																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(712-714)ggC>ggT		D4, zinc and double PHD fingers family 2							74.0	67.0	70.0					11																	65113213		2201	4297	6498	SO:0001819	synonymous_variant	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113213C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.714C>T	11.37:g.65113213C>T						DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Silent_p.G252G|DPF2_ENST00000415073.2_Intron	p.G238G	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			7	847	+			238					A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	c.714C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	c	8.255	0.809838	0.16537	.	.	ENSG00000133884	ENST00000531989	D	0.91068	-2.78	5.24	-10.2	0.00374	.	.	.	.	.	D	0.91016	0.7174	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91055	0.4881	6	0.87932	D	0	-24.6152	13.2977	0.60307	0.0867:0.1833:0.0:0.7299	.	.	.	.	V	1	ENSP00000435887:A1V	ENSP00000435887:A1V	A	+	2	0	DPF2	64869789	0.000000	0.05858	0.034000	0.17996	0.673000	0.39480	-4.528000	0.00220	-2.294000	0.00663	-1.982000	0.00454	GCG		0.527	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		60	255	0	0	0	1	0	60	255				
CCDC126	90693	broad.mit.edu	37	7	23650947	23650947	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23650947A>T	ENST00000307471.3	+	3	470	c.13A>T	c.(13-15)Atc>Ttc	p.I5F	CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F|CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000486109.1_3'UTR	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	5					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						GTTTTTTACAATCTCAAGAAA	0.318																																						ENST00000307471.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(13-15)Atc>Ttc		coiled-coil domain containing 126							73.0	75.0	75.0					7																	23650947		2203	4300	6503	SO:0001583	missense	90693					extracellular region		g.chr7:23650947A>T	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.13A>T	7.37:g.23650947A>T	ENSP00000304355:p.Ile5Phe					CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F	p.I5F	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN			3	470	+			5					A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	c.13A>T	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	A	9.202	1.028699	0.19512	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.65	2.92	0.33932	.	0.112631	0.64402	D	0.000009	T	0.15219	0.0367	N	0.02315	-0.6	0.37480	D	0.915954	B	0.02656	0.0	B	0.04013	0.001	T	0.30563	-0.9974	9	0.02654	T	1	-17.6699	5.3688	0.16129	0.4772:0.118:0.0:0.4048	.	5	Q96EE4	CC126_HUMAN	F	5	.	ENSP00000304355:I5F	I	+	1	0	CCDC126	23617472	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.417000	0.44653	2.150000	0.67090	0.455000	0.32223	ATC		0.318	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771		60	270	0	0	0	1	0	60	270				
ZNF676	163223	broad.mit.edu	37	19	22363697	22363697	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363697A>G	ENST00000397121.2	-	3	1139	c.822T>C	c.(820-822)atT>atC	p.I274I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCAGCATGAATTGCCTTAT	0.393																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(820-822)atT>atC		zinc finger protein 676							84.0	90.0	88.0					19																	22363697		2129	4261	6390	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363697A>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.822T>C	19.37:g.22363697A>G							p.I274I	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1139	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	274					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.822T>C	CCDS42539.1																																																																																				0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		80	351	0	0	0	1	0	80	351				
SNX6	58533	broad.mit.edu	37	14	35036896	35036896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35036896G>A	ENST00000362031.4	-	13	1229	c.1199C>T	c.(1198-1200)gCa>gTa	p.A400V	SNX6_ENST00000396526.3_Missense_Mutation_p.A272V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V|SNX6_ENST00000396534.3_Missense_Mutation_p.A272V	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	388					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CACTACCTTTGCATGCTTCAG	0.289																																						ENST00000396526.3																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(814-816)gCa>gTa		sorting nexin 6							72.0	71.0	72.0					14																	35036896		2203	4297	6500	SO:0001583	missense	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35036896G>A	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.1199C>T	14.37:g.35036896G>A	ENSP00000355217:p.Ala400Val					SNX6_ENST00000396534.3_Missense_Mutation_p.A272V|SNX6_ENST00000362031.4_Missense_Mutation_p.A400V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V	p.A272V			Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	12	1311	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		388					C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	37	c.815C>T	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491920	0.84962	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.9	4.0	0.46444	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.87456	2.885	0.80722	D	1	B;B	0.28291	0.114;0.206	B;B	0.30572	0.055;0.117	T	0.70163	-0.4947	10	0.87932	D	0	-14.5445	14.1526	0.65395	0.0743:0.0:0.9257:0.0	.	276;388	B4DJS7;Q9UNH7	.;SNX6_HUMAN	V	272;272;400;276	ENSP00000379779:A272V;ENSP00000379785:A272V;ENSP00000355217:A400V;ENSP00000347230:A276V	ENSP00000347230:A276V	A	-	2	0	SNX6	34106647	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.763000	0.85283	1.386000	0.46466	0.557000	0.71058	GCA		0.289	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			40	181	0	0	0	1	0	40	181				
NAALAD2	10003	broad.mit.edu	37	11	89868815	89868815	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89868815T>C	ENST00000534061.1	+	2	401	c.171T>C	c.(169-171)gcT>gcC	p.A57A	NAALAD2_ENST00000375944.3_Silent_p.A57A|NAALAD2_ENST00000525171.1_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	57					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAATGAAAGCTGAAAACATCA	0.333																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(169-171)gcT>gcC		N-acetylated alpha-linked acidic dipeptidase 2							110.0	111.0	111.0					11																	89868815		2201	4299	6500	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89868815T>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.171T>C	11.37:g.89868815T>C						NAALAD2_ENST00000375944.3_Silent_p.A57A|NAALAD2_ENST00000525171.1_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A	p.A57A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			2	401	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	57					B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.171T>C	CCDS8288.1																																																																																				0.333	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		45	206	0	0	0	1	0	45	206				
LIFR	3977	broad.mit.edu	37	5	38493825	38493825	+	Missense_Mutation	SNP	C	C	T	rs143621762		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38493825C>T	ENST00000263409.4	-	14	2110	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.D650N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	650	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGTTGGGGTCGTAATGCCAG	0.438			T	PLAG1	salivary adenoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0				Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1948-1950)Gac>Aac		leukemia inhibitory factor receptor alpha							167.0	146.0	153.0					5																	38493825		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493825C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1948G>A	5.37:g.38493825C>T	ENSP00000263409:p.Asp650Asn					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.D650N	p.D650N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			14	2110	-	all_lung(31;0.00021)		650			Fibronectin type-III 5.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1948G>A	CCDS3927.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.98	1.799137	0.31777	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.52983	0.64;0.64	5.68	1.86	0.25419	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (1);	0.469433	0.26203	N	0.025724	T	0.28466	0.0704	N	0.25426	0.745	0.09310	N	0.999994	B	0.17268	0.021	B	0.06405	0.002	T	0.11743	-1.0575	10	0.32370	T	0.25	-12.488	5.6181	0.17442	0.1376:0.5722:0.0:0.2902	.	650	P42702	LIFR_HUMAN	N	650	ENSP00000263409:D650N;ENSP00000398368:D650N	ENSP00000263409:D650N	D	-	1	0	LIFR	38529582	0.247000	0.23920	0.254000	0.24359	0.947000	0.59692	0.542000	0.23222	0.410000	0.25675	0.591000	0.81541	GAC		0.438	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		107	431	0	0	0	1	0	107	431				
KAT2A	2648	broad.mit.edu	37	17	40271425	40271425	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40271425C>A	ENST00000225916.5	-	6	964	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	304					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTATCACAGCTCTGGGGCAC	0.607																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(910-912)aGc>aTc		K(lysine) acetyltransferase 2A							89.0	87.0	88.0					17																	40271425		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40271425C>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.911G>T	17.37:g.40271425C>A	ENSP00000225916:p.Ser304Ile						p.S304I	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			6	964	-			304					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.911G>T	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529346	0.44969	.	.	ENSG00000108773	ENST00000225916	T	0.04917	3.53	4.69	3.7	0.42460	PCAF, N-terminal (1);	0.043254	0.85682	D	0.000000	T	0.07999	0.0200	L	0.36672	1.1	0.52501	D	0.999959	B	0.29805	0.257	B	0.36030	0.216	T	0.31280	-0.9949	10	0.33940	T	0.23	-20.4372	14.1904	0.65635	0.1507:0.8493:0.0:0.0	.	304	Q92830	KAT2A_HUMAN	I	304	ENSP00000225916:S304I	ENSP00000225916:S304I	S	-	2	0	KAT2A	37524951	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.005000	0.49521	1.175000	0.42826	0.555000	0.69702	AGC		0.607	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		106	494	1	0	2.73867e-56	1	3.42633e-56	106	494				
SLC7A5	8140	broad.mit.edu	37	16	87874675	87874675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87874675G>T	ENST00000261622.4	-	3	816	c.751C>A	c.(751-753)Ctc>Atc	p.L251I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	251					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TAGGCAAAGAGGCCGCTGTAT	0.522																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(751-753)Ctc>Atc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							205.0	176.0	186.0					16																	87874675		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87874675G>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.751C>A	16.37:g.87874675G>T	ENSP00000261622:p.Leu251Ile					SLC7A5_ENST00000565644.1_5'UTR	p.L251I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	3	816	-			251					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.751C>A	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512358	0.64522	.	.	ENSG00000103257	ENST00000261622	D	0.90676	-2.71	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94506	0.7714	10	0.34782	T	0.22	.	18.0096	0.89219	0.0:0.0:1.0:0.0	.	251	Q01650	LAT1_HUMAN	I	251	ENSP00000261622:L251I	ENSP00000261622:L251I	L	-	1	0	SLC7A5	86432176	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.427000	0.66483	2.503000	0.84419	0.561000	0.74099	CTC		0.522	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		65	424	1	0	9.5628e-27	1	1.10398e-26	65	424				
RET	5979	broad.mit.edu	37	10	43623580	43623580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43623580C>T	ENST00000355710.3	+	20	3440	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1070					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCGAACTGGCCTGGAGAGAG	0.448		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3208-3210)Cct>Tct		ret proto-oncogene	Sunitinib(DB01268)						164.0	156.0	158.0					10																	43623580		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43623580C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3208C>T	10.37:g.43623580C>T	ENSP00000347942:p.Pro1070Ser						p.P1070S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			20	3440	+		Ovarian(717;0.0423)	1070					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3208C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844386	0.51164	.	.	ENSG00000165731	ENST00000355710	D	0.93547	-3.24	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	N	0.17082	0.46	0.80722	D	1	P	0.44478	0.836	B	0.43754	0.43	D	0.89203	0.3559	10	0.54805	T	0.06	.	12.7379	0.57236	0.0:0.9248:0.0:0.0751	.	1070	P07949	RET_HUMAN	S	1070	ENSP00000347942:P1070S	ENSP00000347942:P1070S	P	+	1	0	RET	42943586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.752000	0.68728	2.593000	0.87608	0.563000	0.77884	CCT		0.448	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		127	652	0	0	0	1	0	127	652				
RPL18	6141	broad.mit.edu	37	19	49120059	49120059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49120059C>T	ENST00000549920.1	-	4	613	c.221G>A	c.(220-222)gGc>gAc	p.G74D	AC022154.7_ENST00000600303.1_RNA|AC022154.7_ENST00000598735.1_RNA|FAM83E_ENST00000595110.1_5'Flank|RPL18_ENST00000549273.1_Missense_Mutation_p.G74D|SPHK2_ENST00000245222.4_5'Flank|SPHK2_ENST00000601712.1_5'Flank|SPHK2_ENST00000600537.1_5'Flank|SPHK2_ENST00000598088.1_5'Flank|SPHK2_ENST00000340932.3_5'Flank|RPL18_ENST00000550645.1_Missense_Mutation_p.G74D|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	74					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GTTTTCCCGGCCAGGAAGCTT	0.577																																						ENST00000549273.1																			0				cervix(1)|kidney(2)	3						c.(220-222)gGc>gAc		ribosomal protein L18							88.0	82.0	84.0					19																	49120059		2203	4300	6503	SO:0001583	missense	6141				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr19:49120059C>T	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"""L ribosomal proteins"""	10310	protein-coding gene	gene with protein product	"""60S ribosomal protein L18"""	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.221G>A	19.37:g.49120059C>T	ENSP00000447001:p.Gly74Asp					RPL18_ENST00000550645.1_Missense_Mutation_p.G74D|RPL18_ENST00000549920.1_Missense_Mutation_p.G74D|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D	p.G74D			Q07020	RL18_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)	4	254	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	74					F8VWC5|Q8WTZ6	Missense_Mutation	SNP	ENST00000549920.1	37	c.221G>A	CCDS12726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.665205|4.665205	0.88251|0.88251	.|.	.|.	ENSG00000063177|ENSG00000063177	ENST00000549920;ENST00000550645;ENST00000552588;ENST00000549273;ENST00000550973;ENST00000450952|ENST00000084795;ENST00000546623	.|.	.|.	.|.	4.34|4.34	4.34|4.34	0.51931|0.51931	Ribosomal protein L18e/L15P (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69169|.	0.3081|.	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P;B|.	0.41008|.	0.735;0.001|.	B;B|.	0.34931|.	0.192;0.019|.	T|.	0.68108|.	-0.5496|.	9|.	0.48119|.	T|.	0.1|.	-17.543|-17.543	14.7267|14.7267	0.69349|0.69349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74;74|.	B4DDY5;Q07020|.	.;RL18_HUMAN|.	D|X	74;74;45;74;22;74|75;46	.|.	ENSP00000407348:G74D|.	G|W	-|-	2|3	0|0	RPL18|RPL18	53811871|53811871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.579000|6.579000	0.74036|0.74036	2.426000|2.426000	0.82243|0.82243	0.478000|0.478000	0.44815|0.44815	GGC|TGG		0.577	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	NM_000979		12	405	0	0	0	1	0	12	405				
CHML	1122	broad.mit.edu	37	1	241798002	241798002	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798002C>A	ENST00000366553.1	-	1	1230	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	356					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGCGTTAAGACCATCTATTGT	0.398																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1066-1068)gGt>gTt		choroideremia-like (Rab escort protein 2)							127.0	126.0	127.0					1																	241798002		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798002C>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1067G>T	1.37:g.241798002C>A	ENSP00000355511:p.Gly356Val					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.G356V	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1230	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	356					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1067G>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104997	0.56291	.	.	ENSG00000203668	ENST00000366553	D	0.86366	-2.11	4.96	3.99	0.46301	.	0.107759	0.64402	U	0.000006	D	0.92564	0.7638	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92555	0.6053	9	0.62326	D	0.03	-9.7362	13.364	0.60674	0.0:0.8401:0.1598:0.0	.	356	P26374	RAE2_HUMAN	V	356	ENSP00000355511:G356V	ENSP00000355511:G356V	G	-	2	0	CHML	239864625	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.935000	0.56560	2.752000	0.94435	0.655000	0.94253	GGT		0.398	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		141	374	1	0	1.12488e-73	1	1.43224e-73	141	374				
WDR66	144406	broad.mit.edu	37	12	122380800	122380800	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122380800G>T	ENST00000288912.4	+	7	1964		c.e7-1		WDR66_ENST00000397454.2_Splice_Site	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66								calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GTCACCTACAGAAGGTATGCA	0.498																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e7-1		WD repeat domain 66							98.0	99.0	99.0					12																	122380800		2004	4190	6194	SO:0001630	splice_region_variant	144406						calcium ion binding	g.chr12:122380800G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1111-1G>T	12.37:g.122380800G>T						WDR66_ENST00000397454.2_Splice_Site		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	7	1964	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)							C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Splice_Site	SNP	ENST00000288912.4	37		CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779734	0.31502	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7853	0.63105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR66	120865183	1.000000	0.71417	0.967000	0.41034	0.144000	0.21451	6.434000	0.73408	2.316000	0.78162	0.557000	0.71058	.		0.498	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	Intron	48	244	1	0	9.52127e-25	1	1.09014e-24	48	244				
LINC00303	284573	broad.mit.edu	37	1	204006574	204006574	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204006574G>T	ENST00000367207.3	-	0	446							Q3SY05	CA157_HUMAN	long intergenic non-protein coding RNA 303																		GGACAACTGCGCTCCATGGAC	0.602																																						ENST00000367207.3																			0																				82.0	92.0	89.0					1																	204006574		2158	4262	6420			0							g.chr1:204006574G>T	AK097662		1q32.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000176754	ENSG00000176754		"""Long non-coding RNAs"""	26865	non-coding RNA	RNA, long non-coding			"""chromosome 1 open reading frame 157"", ""non-protein coding RNA 303"""	C1orf157, NCRNA00303			Standard	NR_027902		Approved	FLJ40343	uc010pqo.1	Q3SY05	OTTHUMG00000036054		1.37:g.204006574G>T														0	446	-								Q3SY06|Q8N7U1	RNA	SNP	ENST00000367207.3	37																																																																																						0.602	LINC00303-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087885.3	NR_027902		8	527	1	0	0.27861	1	0.278732	8	527				
KIAA0195	9772	broad.mit.edu	37	17	73495078	73495078	+	Missense_Mutation	SNP	G	G	A	rs370635593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495078G>A	ENST00000314256.7	+	31	4307	c.3913G>A	c.(3913-3915)Gtg>Atg	p.V1305M	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M|KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1305						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGAGGACGTGCCCCTGCT	0.622																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3913-3915)Gtg>Atg		KIAA0195		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	102.0	79.0	87.0		3913	5.9	1.0	17		87	0,8600		0,0,4300	no	missense	KIAA0195	NM_014738.4	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1305/1357	73495078	1,13005	2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73495078G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3913G>A	17.37:g.73495078G>A	ENSP00000313885:p.Val1305Met					KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M|KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M	p.V1305M	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		31	4307	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1305					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3913G>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672607	0.47781	2.27E-4	0.0	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96011	-3.88;-3.88	5.88	5.88	0.94601	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.062160	0.64402	D	0.000012	D	0.93390	0.7892	N	0.22421	0.69	0.46078	D	0.998854	P;D;D;D	0.61080	0.952;0.986;0.977;0.989	P;P;P;P	0.55923	0.714;0.681;0.591;0.787	D	0.92320	0.5865	10	0.62326	D	0.03	-22.7561	7.7162	0.28706	0.1903:0.0:0.8097:0.0	.	1315;1315;1335;1305	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	M	1305;1315	ENSP00000313885:V1305M;ENSP00000364397:V1315M	ENSP00000313885:V1305M	V	+	1	0	KIAA0195	71006673	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.945000	0.63568	2.782000	0.95742	0.655000	0.94253	GTG		0.622	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		35	303	0	0	0	1	0	35	303				
WNT5A	7474	broad.mit.edu	37	3	55504215	55504215	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55504215C>T	ENST00000474267.1	-	6	1569	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	WNT5A_ENST00000497027.1_Missense_Mutation_p.V335M|WNT5A_ENST00000264634.4_Missense_Mutation_p.V350M|WNT5A_ENST00000493406.1_5'Flank			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	350					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TCCGTCTGCACGGTCTTGAAC	0.612																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1048-1050)Gtg>Atg		wingless-type MMTV integration site family, member 5A							76.0	81.0	80.0					3																	55504215		2203	4300	6503	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504215C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1048G>A	3.37:g.55504215C>T	ENSP00000417310:p.Val350Met					WNT5A_ENST00000264634.4_Missense_Mutation_p.V350M|WNT5A_ENST00000497027.1_Missense_Mutation_p.V335M	p.V350M			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1569	-			350					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.1048G>A	CCDS46850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.622040|2.622040	0.46840|0.46840	.|.	.|.	ENSG00000114251|ENSG00000114251	ENST00000442038|ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	.|T;T;T	.|0.76709	.|-1.04;-1.04;-1.04	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.140717	.|0.50627	.|D	.|0.000108	T|T	0.75072|0.75072	0.3800|0.3800	L|L	0.55834|0.55834	1.745|1.745	0.37157|0.37157	D|D	0.902431|0.902431	.|P	.|0.38617	.|0.64	.|B	.|0.34301	.|0.179	T|T	0.79940|0.79940	-0.1591|-0.1591	6|10	0.49607|0.54805	T|T	0.09|0.06	.|.	19.7728|19.7728	0.96373|0.96373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|350	.|P41221	.|WNT5A_HUMAN	H|M	82|350;350;261;335	.|ENSP00000417310:V350M;ENSP00000264634:V350M;ENSP00000420104:V335M	ENSP00000395272:R82H|ENSP00000264634:V350M	R|V	-|-	2|1	0|0	WNT5A|WNT5A	55479255|55479255	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	3.240000|3.240000	0.51368|0.51368	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.612	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		14	452	0	0	0	1	0	14	452				
TMTC4	84899	broad.mit.edu	37	13	101257327	101257327	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101257327T>C	ENST00000376234.3	-	18	2336	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	TMTC4_ENST00000342624.5_Missense_Mutation_p.D735G|TMTC4_ENST00000328767.5_Missense_Mutation_p.D605G	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	716						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCGTGGGGTCAAGCTGCAA	0.433																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2203-2205)gAc>gGc		transmembrane and tetratricopeptide repeat containing 4							278.0	248.0	258.0					13																	101257327		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101257327T>C		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2147A>G	13.37:g.101257327T>C	ENSP00000365408:p.Asp716Gly					TMTC4_ENST00000328767.5_Missense_Mutation_p.D605G|TMTC4_ENST00000376234.3_Missense_Mutation_p.D716G	p.D735G	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			19	2462	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		716					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.2204A>G	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661990	0.88251	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.65178	-0.14;-0.14;-0.14	6.15	6.15	0.99193	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.86740	2.835	0.80722	D	1	D;D;D	0.65815	0.994;0.977;0.995	D;D;D	0.71184	0.936;0.948;0.972	D	0.83781	0.0225	10	0.52906	T	0.07	.	16.7886	0.85580	0.0:0.0:0.0:1.0	.	605;716;735	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	G	716;735;605	ENSP00000365408:D716G;ENSP00000343871:D735G;ENSP00000365409:D605G	ENSP00000365409:D605G	D	-	2	0	TMTC4	100055328	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.690000	0.84178	2.363000	0.80096	0.523000	0.50628	GAC		0.433	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		106	625	0	0	0	1	0	106	625				
CSMD1	64478	broad.mit.edu	37	8	2818703	2818703	+	Missense_Mutation	SNP	G	G	A	rs201200691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2818703G>A	ENST00000520002.1	-	63	10220	c.9665C>T	c.(9664-9666)aCg>aTg	p.T3222M	CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3222M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3222	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T2950K(1)|p.T3221K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTGTGGCGTACCAGGGTC	0.348																																						ENST00000602557.1																			2	Substitution - Missense(2)	p.T2950K(1)|p.T3221K(1)	kidney(2)	breast(20)|large_intestine(5)	25						c.(9664-9666)aCg>aTg		CUB and Sushi multiple domains 1							77.0	74.0	75.0					8																	2818703		1842	4103	5945	SO:0001583	missense	64478					integral to membrane		g.chr8:2818703G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9665C>T	8.37:g.2818703G>A	ENSP00000430733:p.Thr3222Met					CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T3222M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M	p.T3222M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	63	10220	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3222			Sushi 27.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9665C>T		.	.	.	.	.	.	.	.	.	.	G	15.11	2.737291	0.49045	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	L	0.55103	1.725	0.80722	D	1	D;P;D	0.69078	0.997;0.52;0.995	D;B;D	0.66497	0.91;0.223;0.944	T	0.74131	-0.3764	10	0.48119	T	0.1	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	3222;3222;3044	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	M	3045;3222;3083;3221;3044	ENSP00000383047:T3045M;ENSP00000430733:T3222M;ENSP00000441462:T3221M;ENSP00000446243:T3044M	ENSP00000320445:T3083M	T	-	2	0	CSMD1	2806110	1.000000	0.71417	0.104000	0.21259	0.343000	0.28985	5.299000	0.65716	2.755000	0.94549	0.650000	0.86243	ACG		0.348	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		24	109	0	0	0	1	0	24	109				
IGSF9B	22997	broad.mit.edu	37	11	133790553	133790553	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790553T>G	ENST00000321016.8	-	18	3297	c.3067A>C	c.(3067-3069)Agc>Cgc	p.S1023R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1023R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1023	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCAGCGTGCTGTTGGATGCA	0.672																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3067-3069)Agc>Cgc		immunoglobulin superfamily, member 9B							61.0	70.0	67.0					11																	133790553		2083	4219	6302	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790553T>G	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3067A>C	11.37:g.133790553T>G	ENSP00000317980:p.Ser1023Arg					IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1023R	p.S1023R			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3297	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1023			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3067A>C		.	.	.	.	.	.	.	.	.	.	t	12.19	1.863010	0.32884	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.16;-0.18	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000060	T	0.63534	0.2519	N	0.14661	0.345	0.35023	D	0.758053	D	0.65815	0.995	D	0.70487	0.969	T	0.72798	-0.4184	10	0.40728	T	0.16	.	14.2931	0.66292	0.0:0.0:0.0:1.0	.	1023	Q9UPX0	TUTLB_HUMAN	R	1023;865	ENSP00000317980:S1023R;ENSP00000436552:S865R	ENSP00000317980:S1023R	S	-	1	0	IGSF9B	133295763	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.600000	0.82769	1.855000	0.53841	0.449000	0.29647	AGC		0.672	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		101	411	0	0	0	1	0	101	411				
CUL7	9820	broad.mit.edu	37	6	43005624	43005624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43005624C>T	ENST00000265348.3	-	26	4984	c.4899G>A	c.(4897-4899)acG>acA	p.T1633T	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Silent_p.T1717T			Q14999	CUL7_HUMAN	cullin 7	1633					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGTCTCAGCGTGCCCTTGC	0.627																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(5149-5151)acG>acA		cullin 7							86.0	73.0	78.0					6																	43005624		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43005624C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4899G>A	6.37:g.43005624C>T						CUL7_ENST00000265348.3_Silent_p.T1633T	p.T1717T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		26	5237	-			1633					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.5151G>A	CCDS4881.1																																																																																				0.627	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		26	117	0	0	0	1	0	26	117				
KIAA0922	23240	broad.mit.edu	37	4	154557648	154557648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154557648C>A	ENST00000409663.3	+	35	4802	c.4750C>A	c.(4750-4752)Ctg>Atg	p.L1584M	KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1585M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1584						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTATATGAACCTGGACATATG	0.468																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4750-4752)Ctg>Atg		KIAA0922							98.0	94.0	95.0					4																	154557648		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154557648C>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4750C>A	4.37:g.154557648C>A	ENSP00000386574:p.Leu1584Met					KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1585M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M	p.L1584M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			35	4802	+	all_hematologic(180;0.093)	Renal(120;0.118)	1584					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4750C>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766502	0.69878	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.37915	1.43;1.17;1.43;1.19	5.93	5.09	0.68999	.	0.000000	0.64402	D	0.000002	T	0.44644	0.1303	L	0.27053	0.805	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.45629	-0.9248	10	0.87932	D	0	-12.7261	9.5794	0.39479	0.0:0.8025:0.0:0.1975	.	1501;1585;1584	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	1584;1501;1585;1362	ENSP00000386574:L1584M;ENSP00000409663:L1501M;ENSP00000386787:L1585M;ENSP00000240487:L1362M	ENSP00000240487:L1362M	L	+	1	2	KIAA0922	154777098	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.719000	0.47244	1.509000	0.48786	0.655000	0.94253	CTG		0.468	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		16	432	1	0	0.00316338	1	0.00318819	16	432				
HCAR2	338442	broad.mit.edu	37	12	123187521	123187521	+	Missense_Mutation	SNP	G	G	A	rs370020427		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123187521G>A	ENST00000328880.5	-	1	369	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	104					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	AACATGAAGAGCATCAGCCGG	0.562																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(310-312)Ctc>Ttc		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						100.0	87.0	91.0					12																	123187521		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187521G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.310C>T	12.37:g.123187521G>A	ENSP00000375066:p.Leu104Phe					RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.L104F	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	369	-			104					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.310C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107105	0.77096	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.38722	1.12	5.65	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.56140	0.1965	M	0.67953	2.075	0.35664	D	0.812774	D	0.64830	0.994	D	0.71870	0.975	T	0.60999	-0.7151	10	0.09084	T	0.74	-29.4403	12.3652	0.55224	0.0802:0.0:0.9198:0.0	.	104	Q8TDS4	HCAR2_HUMAN	F	104	ENSP00000375066:L104F	ENSP00000375066:L104F	L	-	1	0	HCAR2	121753474	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.555000	0.60767	1.632000	0.50472	0.655000	0.94253	CTC		0.562	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		77	292	0	0	0	1	0	77	292				
PEX14	5195	broad.mit.edu	37	1	10689966	10689966	+	Silent	SNP	C	C	T	rs372035480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689966C>T	ENST00000356607.4	+	9	1136	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PEX14_ENST00000538836.1_Silent_p.G288G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	352					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGCCGGGGCGGGGATGGGC	0.672																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(1054-1056)ggC>ggT		peroxisomal biogenesis factor 14		C		0,4406		0,0,2203	154.0	165.0	162.0		1056	-4.7	1.0	1		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PEX14	NM_004565.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		352/378	10689966	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10689966C>T	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1056C>T	1.37:g.10689966C>T						PEX14_ENST00000538836.1_Silent_p.G288G	p.G352G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	1136	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	352					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	c.1056C>T	CCDS30582.1																																																																																				0.672	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			66	211	0	0	0	1	0	66	211				
SLC6A17	388662	broad.mit.edu	37	1	110719341	110719341	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110719341C>T	ENST00000331565.4	+	6	1329	c.844C>T	c.(844-846)Cta>Tta	p.L282L	RP5-1028L10.2_ENST00000440688.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	282					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGGCATCCTACACATGTT	0.572																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(844-846)Cta>Tta		solute carrier family 6 (neutral amino acid transporter), member 17							147.0	120.0	130.0					1																	110719341		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110719341C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.844C>T	1.37:g.110719341C>T							p.L282L	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	6	1329	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	282					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.844C>T	CCDS30799.1																																																																																				0.572	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		42	441	0	0	0	1	0	42	441				
HPD	3242	broad.mit.edu	37	12	122295256	122295256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122295256C>T	ENST00000289004.4	-	4	211	c.176G>A	c.(175-177)aGc>aAc	p.S59N	HPD_ENST00000543163.1_Missense_Mutation_p.S20N|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	59					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GATTACATGGCTGACCACCTC	0.547																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(58-60)aGc>aAc		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						80.0	80.0	80.0					12																	122295256		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122295256C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.176G>A	12.37:g.122295256C>T	ENSP00000289004:p.Ser59Asn					HPD_ENST00000289004.4_Missense_Mutation_p.S59N	p.S20N	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	5	504	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		59					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.59G>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671351	0.88348	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.63913	-0.07;-0.07	5.48	4.54	0.55810	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.149579	0.64402	D	0.000008	T	0.72228	0.3434	M	0.90870	3.155	0.49915	D	0.999838	P	0.36330	0.548	B	0.41723	0.365	T	0.78094	-0.2338	10	0.72032	D	0.01	-48.2563	12.0439	0.53469	0.0:0.7096:0.2904:0.0	.	59	P32754	HPPD_HUMAN	N	59;56;20	ENSP00000289004:S59N;ENSP00000441677:S20N	ENSP00000289004:S59N	S	-	2	0	HPD	120779639	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.017000	0.70805	2.741000	0.93983	0.555000	0.69702	AGC		0.547	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		68	399	0	0	0	1	0	68	399				
MBLAC2	153364	broad.mit.edu	37	5	89770000	89770000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89770000C>T	ENST00000316610.6	-	1	585	c.110G>A	c.(109-111)gGc>gAc	p.G37D	POLR3G_ENST00000514483.1_5'Flank|MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	37						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						CTGCTCGGAGCCGCGCACCAG	0.607																																						ENST00000316610.6																			0				kidney(1)|liver(1)|lung(3)	5						c.(109-111)gGc>gAc		metallo-beta-lactamase domain containing 2							28.0	25.0	26.0					5																	89770000		2202	4300	6502	SO:0001583	missense	153364						hydrolase activity|metal ion binding	g.chr5:89770000C>T	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.110G>A	5.37:g.89770000C>T	ENSP00000314776:p.Gly37Asp					MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D	p.G37D	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN			1	585	-			37					D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	37	c.110G>A	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	C	36	5.653877	0.96724	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122	T;T	0.80214	-1.35;-1.35	5.37	5.37	0.77165	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	L	0.54908	1.71	0.80722	D	1	P	0.45474	0.859	P	0.61397	0.888	T	0.82841	-0.0258	10	0.23302	T	0.38	-1.1889	18.7291	0.91728	0.0:1.0:0.0:0.0	.	37	Q68D91	MBLC2_HUMAN	D	37	ENSP00000314776:G37D;ENSP00000425600:G37D	ENSP00000314776:G37D	G	-	2	0	AC093510.2;MBLAC2	89805756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.504000	0.66968	2.496000	0.84212	0.655000	0.94253	GGC		0.607	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		10	49	0	0	0	1	0	10	49				
CTC1	80169	broad.mit.edu	37	17	8131620	8131620	+	Nonsense_Mutation	SNP	G	G	A	rs200919310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8131620G>A	ENST00000315684.8	-	23	3539	c.3532C>T	c.(3532-3534)Cga>Tga	p.R1178*	RP11-849F2.8_ENST00000602405.1_lincRNA	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1178					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CACTGGAATCGCTGTAGCCGA	0.547																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3532-3534)Cga>Tga		CTS telomere maintenance complex component 1							70.0	79.0	76.0					17																	8131620		2034	4195	6229	SO:0001587	stop_gained	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8131620G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3532C>T	17.37:g.8131620G>A	ENSP00000313759:p.Arg1178*						p.R1178*	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			23	3539	-			1178					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Nonsense_Mutation	SNP	ENST00000315684.8	37	c.3532C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	41	9.047756	0.99048	.	.	ENSG00000178971	ENST00000315684	.	.	.	5.91	4.92	0.64577	.	0.400252	0.26586	N	0.023549	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5863	12.2985	0.54860	0.0:0.0:0.8308:0.1692	.	.	.	.	X	1178	.	ENSP00000313759:R1178X	R	-	1	2	CTC1	8072345	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	2.878000	0.48515	1.454000	0.47793	0.655000	0.94253	CGA		0.547	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		85	367	0	0	0	1	0	85	367				
VAPB	9217	broad.mit.edu	37	20	57016098	57016098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57016098G>A	ENST00000475243.1	+	5	870	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GAGGCTGCAAGGTGAAGTTCA	0.413																																						ENST00000475243.1																			0				kidney(2)|lung(3)|prostate(1)	6						c.(532-534)Ggt>Agt		VAMP (vesicle-associated membrane protein)-associated protein B and C							94.0	88.0	90.0					20																	57016098		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:57016098G>A	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.532G>A	20.37:g.57016098G>A	ENSP00000417175:p.Gly178Ser					VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	p.G178S	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		5	870	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		178					A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.532G>A	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	G	3.469	-0.108439	0.06924	.	.	ENSG00000124164	ENST00000475243	T	0.30981	1.51	5.49	2.51	0.30379	.	0.222846	0.47093	N	0.000241	T	0.11410	0.0278	N	0.08118	0	0.09310	N	0.999994	B;B	0.10296	0.0;0.003	B;B	0.09377	0.004;0.001	T	0.31308	-0.9948	10	0.09338	T	0.73	-9.6621	4.6963	0.12806	0.2107:0.0:0.5376:0.2517	.	55;178	B4DNS4;O95292	.;VAPB_HUMAN	S	178	ENSP00000417175:G178S	ENSP00000417175:G178S	G	+	1	0	VAPB	56449504	0.967000	0.33354	0.021000	0.16686	0.984000	0.73092	0.859000	0.27858	0.297000	0.22615	-0.157000	0.13467	GGT		0.413	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			46	219	0	0	0	1	0	46	219				
PHGDH	26227	broad.mit.edu	37	1	120284428	120284428	+	Missense_Mutation	SNP	G	G	A	rs201553627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120284428G>A	ENST00000369409.4	+	10	1253	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	PHGDH_ENST00000369407.3_Missense_Mutation_p.A339T|PHGDH_ENST00000482968.1_3'UTR	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	373			A -> T (in PHGDH deficiency; results in almost undetectable enzyme activity with 3-phosphohydroxypyruvate). {ECO:0000269|PubMed:19235232}.		brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCTAAGCCCCGCAGTCATTGT	0.567																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(1015-1017)Gca>Aca		phosphoglycerate dehydrogenase	NADH(DB00157)						89.0	82.0	84.0					1																	120284428		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120284428G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1117G>A	1.37:g.120284428G>A	ENSP00000358417:p.Ala373Thr					PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Missense_Mutation_p.A373T	p.A339T			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	9	2522	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	373					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1015G>A	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.843250	0.51057	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.87103	-2.21;-2.21	5.39	4.48	0.54585	.	0.105284	0.64402	D	0.000005	D	0.86703	0.5996	M	0.68952	2.095	0.30683	N	0.752119	D;D;D;D	0.64830	0.982;0.982;0.994;0.99	P;P;P;P	0.57548	0.678;0.678;0.823;0.678	D	0.84014	0.0350	10	0.54805	T	0.06	-8.5858	11.8603	0.52461	0.0855:0.0:0.9145:0.0	.	339;339;246;373	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	T	373;246;339	ENSP00000358417:A373T;ENSP00000358415:A339T	ENSP00000358415:A339T	A	+	1	0	PHGDH	120085951	1.000000	0.71417	0.014000	0.15608	0.203000	0.24098	5.700000	0.68318	1.278000	0.44430	-0.136000	0.14681	GCA		0.567	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		40	315	0	0	0	1	0	40	315				
OR10G7	390265	broad.mit.edu	37	11	123909487	123909487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123909487G>A	ENST00000330487.5	-	1	230	c.222C>T	c.(220-222)gtC>gtT	p.V74V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGGCACCGTGACAGTGGAGA	0.537																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(220-222)gtC>gtT		olfactory receptor, family 10, subfamily G, member 7							88.0	96.0	94.0					11																	123909487		2200	4297	6497	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909487G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.222C>T	11.37:g.123909487G>A							p.V74V	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	230	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	74					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.222C>T	CCDS31705.1																																																																																				0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		26	829	0	0	0	1	0	26	829				
F2RL2	2151	broad.mit.edu	37	5	75913857	75913857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75913857C>T	ENST00000296641.4	-	2	878	c.675G>A	c.(673-675)atG>atA	p.M225I	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	225					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAATGGCAGCATATATAAGA	0.493																																						ENST00000296641.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32						c.(673-675)atG>atA		coagulation factor II (thrombin) receptor-like 2							62.0	58.0	59.0					5																	75913857		2203	4300	6503	SO:0001583	missense	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75913857C>T	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.675G>A	5.37:g.75913857C>T	ENSP00000296641:p.Met225Ile					IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron	p.M225I	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	2	878	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	225					B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	c.675G>A	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926652	0.34002	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36699	1.24;1.24	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.136641	0.64402	D	0.000003	T	0.33673	0.0871	L	0.41492	1.28	0.37047	D	0.897399	B	0.26258	0.145	B	0.29267	0.1	T	0.22626	-1.0211	10	0.21014	T	0.42	-26.9937	18.5213	0.90954	0.0:1.0:0.0:0.0	.	225	O00254	PAR3_HUMAN	I	225;203	ENSP00000296641:M225I;ENSP00000426703:M203I	ENSP00000296641:M225I	M	-	3	0	F2RL2	75949613	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.429000	0.52800	2.367000	0.80283	0.563000	0.77884	ATG		0.493	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			8	216	0	0	0	1	0	8	216				
GDF5OS	554250	broad.mit.edu	37	20	34022053	34022053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34022053C>T	ENST00000374375.1	+	2	539	c.97C>T	c.(97-99)Cga>Tga	p.R33*	GDF5_ENST00000374372.1_Missense_Mutation_p.R387H|GDF5_ENST00000374369.3_Missense_Mutation_p.R387H			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	33	Arg-rich.					mitochondrion (GO:0005739)		p.R387H(1)		cervix(1)|endometrium(4)|lung(4)	9						CTTGCCCTGGCGAGTGGCCAG	0.577																																						ENST00000374375.1																			1	Substitution - Missense(1)	p.R387H(1)	central_nervous_system(1)	cervix(1)|endometrium(4)|lung(4)	9						c.(97-99)Cga>Tga									80.0	82.0	82.0					20																	34022053		2203	4300	6503	SO:0001587	stop_gained	0							g.chr20:34022053C>T	BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.97C>T	20.37:g.34022053C>T	ENSP00000363495:p.Arg33*					GDF5_ENST00000374369.3_Missense_Mutation_p.R387H|GDF5_ENST00000374372.1_Missense_Mutation_p.R387H	p.R33*							2	539	+								A6PVI8	Nonsense_Mutation	SNP	ENST00000374375.1	37	c.97C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.644736|6.644736	0.97730|0.97730	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	D;D|.	0.81908|.	-1.55;-1.55|.	4.05|4.05	4.05|4.05	0.47172|0.47172	Transforming growth factor-beta, C-terminal (1);|.	0.066834|0.066834	0.64402|0.64402	D|D	0.000013|0.000013	T|.	0.60025|.	0.2237|.	L|L	0.32530|0.32530	0.975|0.975	0.54753|0.54753	D|D	0.99998|0.99998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.974;0.994|.	T|.	0.66598|.	-0.5883|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	16.4028|16.4028	0.83647|0.83647	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	387;387|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	H|X	387|33	ENSP00000363489:R387H;ENSP00000363492:R387H|.	ENSP00000363489:R387H|ENSP00000363495:R33X	R|R	-|+	2|1	0|2	GDF5|GDF5OS	33485467|33485467	0.948000|0.948000	0.32251|0.32251	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	2.340000|2.340000	0.43974|0.43974	2.085000|2.085000	0.62840|0.62840	0.313000|0.313000	0.20887|0.20887	CGC|CGA		0.577	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000125987.3			21	897	0	0	0	1	0	21	897				
TRO	7216	broad.mit.edu	37	X	54957437	54957437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54957437G>A	ENST00000173898.7	+	12	4392	c.4280G>A	c.(4279-4281)gGc>gAc	p.G1427D	TRO_ENST00000420798.2_Missense_Mutation_p.G958D|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1427	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGTGCCTGTGGCTTCTCGTAT	0.557																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(4279-4281)gGc>gAc		trophinin							27.0	28.0	27.0					X																	54957437		1961	4140	6101	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957437G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4280G>A	X.37:g.54957437G>A	ENSP00000173898:p.Gly1427Asp					TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G958D	p.G1427D	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	4392	+			1427			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.4280G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855585	0.51376	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.27104	2.55;1.69;3.06	3.18	2.31	0.28768	.	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.26502	N	0.974758	D;D	0.60160	0.987;0.987	P;P	0.47864	0.559;0.559	T	0.08146	-1.0736	9	0.87932	D	0	.	7.5398	0.27731	0.138:0.0:0.862:0.0	.	1030;1427	B1AKE9;Q12816	.;TROP_HUMAN	D	1427;353;958;1030	ENSP00000173898:G1427D;ENSP00000405126:G958D;ENSP00000364181:G1030D	ENSP00000173898:G1427D	G	+	2	0	TRO	54974162	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	3.930000	0.56522	0.744000	0.32741	0.600000	0.82982	GGC		0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		41	136	0	0	0	1	0	41	136				
CLCA3P	9629	broad.mit.edu	37	1	87101745	87101745	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87101745A>C	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							TTTACTCCAAACTTCTTGTTG	0.363																																						ENST00000456587.1																			0																				121.0	121.0	121.0					1																	87101745		2203	4300	6503			0							g.chr1:87101745A>C																													1.37:g.87101745A>C						CLCA3P_ENST00000466454.1_RNA								0	294	-									RNA	SNP	ENST00000456587.1	37																																																																																						0.363	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000028263.1			95	331	0	0	0	1	0	95	331				
DOCK8	81704	broad.mit.edu	37	9	382633	382633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:382633C>T	ENST00000453981.1	+	22	2838	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	DOCK8_ENST00000469391.1_Missense_Mutation_p.A841V|DOCK8_ENST00000432829.2_Missense_Mutation_p.A841V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376V|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	909					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCAGACCTCGCGGGGACACAC	0.542																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(2521-2523)gCg>gTg		dedicator of cytokinesis 8							64.0	56.0	59.0					9																	382633		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:382633C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2726C>T	9.37:g.382633C>T	ENSP00000408464:p.Ala909Val					DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V|DOCK8_ENST00000453981.1_Missense_Mutation_p.A909V|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376V	p.A841V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	22	2838	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	909					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.2522C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849439	0.32699	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.64	2.51	0.30379	.	0.517985	0.20394	N	0.093194	T	0.24314	0.0589	L	0.47190	1.495	0.09310	N	1	B;B;B;B	0.16603	0.018;0.0;0.001;0.0	B;B;B;B	0.11329	0.006;0.001;0.002;0.001	T	0.22173	-1.0224	10	0.20519	T	0.43	.	10.0352	0.42125	0.0:0.7579:0.0:0.2421	.	211;841;376;909	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	V	909;909;841;841;211;376	ENSP00000408464:A909V;ENSP00000394888:A841V;ENSP00000419438:A841V;ENSP00000371768:A211V;ENSP00000371766:A376V	ENSP00000287364:A909V	A	+	2	0	DOCK8	372633	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	1.427000	0.34881	0.208000	0.20626	-0.126000	0.14955	GCG		0.542	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	386	0	0	0	1	0	7	386				
SCRN1	9805	broad.mit.edu	37	7	29963631	29963631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963631G>A	ENST00000426154.1	-	8	1363	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000434476.2_Missense_Mutation_p.A416V|SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V|SCRN1_ENST00000425819.2_Missense_Mutation_p.A328V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	396					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCCACTTCCGCAGGGTCCAG	0.522																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(1186-1188)gCg>gTg		secernin 1							104.0	106.0	105.0					7																	29963631		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29963631G>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1187C>T	7.37:g.29963631G>A	ENSP00000409068:p.Ala396Val					SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V|SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V	p.A396V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			8	1363	-			396					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.1187C>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	6.220	0.408774	0.11812	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	T;T;T;T;T;T	0.12255	3.22;3.22;3.07;3.22;2.7;3.21	4.73	3.85	0.44370	.	0.335476	0.28011	N	0.016950	T	0.10423	0.0255	L	0.42245	1.32	0.09310	N	1	B;B;P;B	0.36837	0.106;0.049;0.571;0.007	B;B;B;B	0.27262	0.007;0.007;0.078;0.004	T	0.17198	-1.0377	10	0.30078	T	0.28	-0.9737	11.8492	0.52401	0.0863:0.0:0.9137:0.0	.	416;416;328;396	C9JPG0;B4DHM0;B4DIP5;Q12765	.;.;.;SCRN1_HUMAN	V	396;396;328;200;396;222;416	ENSP00000242059:A396V;ENSP00000409068:A396V;ENSP00000414245:A328V;ENSP00000386872:A396V;ENSP00000407460:A222V;ENSP00000388942:A416V	ENSP00000242059:A396V	A	-	2	0	SCRN1	29930156	0.123000	0.22298	0.015000	0.15790	0.099000	0.18886	2.986000	0.49370	1.108000	0.41662	0.655000	0.94253	GCG		0.522	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		124	516	0	0	0	1	0	124	516				
RAB24	53917	broad.mit.edu	37	5	176729783	176729783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176729783G>A	ENST00000303251.6	-	3	654	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB24_ENST00000393611.2_Missense_Mutation_p.R79W|RAB24_ENST00000303270.6_Missense_Mutation_p.R50W|PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	79					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGCACCCCGATAGTAGATT	0.562																																						ENST00000303270.6																			0											c.(148-150)Cgg>Tgg		RAB24, member RAS oncogene family							105.0	99.0	101.0					5																	176729783		2203	4300	6503	SO:0001583	missense	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176729783G>A	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.235C>T	5.37:g.176729783G>A	ENSP00000304376:p.Arg79Trp					RAB24_ENST00000303251.6_Missense_Mutation_p.R79W|RAB24_ENST00000393611.2_Missense_Mutation_p.R79W	p.R50W			Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	750	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	79					Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	c.148C>T	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168804	0.78339	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.73047	-0.71;-0.71;-0.71	5.49	3.63	0.41609	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.88855	0.6550	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91429	0.5164	10	0.87932	D	0	-0.5622	14.0463	0.64706	0.0:0.0:0.7244:0.2755	.	79;50	Q969Q5;F8W8H5	RAB24_HUMAN;.	W	79;79;50	ENSP00000377235:R79W;ENSP00000304376:R79W;ENSP00000302085:R50W	ENSP00000304376:R79W	R	-	1	2	RAB24	176662389	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	2.973000	0.49264	0.617000	0.30160	0.555000	0.69702	CGG		0.562	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		124	591	0	0	0	1	0	124	591				
SPHKAP	80309	broad.mit.edu	37	2	228882946	228882946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228882946G>A	ENST00000392056.3	-	7	2670	c.2624C>T	c.(2623-2625)gCt>gTt	p.A875V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	875						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A875D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTCTCCTCAGCCTCCTGGGA	0.507																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.A875D(2)	lung(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2623-2625)gCt>gTt		SPHK1 interactor, AKAP domain containing							504.0	485.0	491.0					2																	228882946		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882946G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2624C>T	2.37:g.228882946G>A	ENSP00000375909:p.Ala875Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	p.A875V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2670	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	875					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2624C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	6.036	0.374956	0.11409	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.91	0.762	0.18454	.	0.872320	0.10307	N	0.690431	T	0.10208	0.0250	L	0.54323	1.7	0.09310	N	1	B;P	0.39424	0.03;0.673	B;B	0.33254	0.008;0.16	T	0.25537	-1.0129	10	0.33940	T	0.23	0.2528	2.6393	0.04966	0.1281:0.2277:0.4097:0.2346	.	875;875	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	875	ENSP00000375909:A875V;ENSP00000339886:A875V	ENSP00000339886:A875V	A	-	2	0	SPHKAP	228591190	0.003000	0.15002	0.000000	0.03702	0.054000	0.15201	1.011000	0.29911	0.105000	0.17753	-0.175000	0.13238	GCT		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		179	872	0	0	0	1	0	179	872				
TXNRD2	10587	broad.mit.edu	37	22	19883045	19883045	+	Silent	SNP	G	G	A	rs371075332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19883045G>A	ENST00000400521.1	-	11	840	c.834C>T	c.(832-834)ggC>ggT	p.G278G	TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400518.1_Silent_p.G248G|TXNRD2_ENST00000535882.1_Silent_p.G277G|TXNRD2_ENST00000334363.9_Silent_p.G278G|TXNRD2_ENST00000400519.1_Silent_p.G277G|TXNRD2_ENST00000542719.1_Silent_p.G248G	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	278					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGGGGGCACAGCCCCTCAGGA	0.622																																						ENST00000535882.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(829-831)ggC>ggT		thioredoxin reductase 2							66.0	78.0	74.0					22																	19883045		2090	4223	6313	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19883045G>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.834C>T	22.37:g.19883045G>A						TXNRD2_ENST00000400525.1_Silent_p.G255G|TXNRD2_ENST00000400518.1_Silent_p.G248G|TXNRD2_ENST00000400521.1_Silent_p.G278G|TXNRD2_ENST00000334363.9_Silent_p.G278G|TXNRD2_ENST00000400519.1_Silent_p.G277G|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Silent_p.G248G	p.G277G			Q9NNW7	TRXR2_HUMAN			11	830	-	Colorectal(54;0.0993)		278					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.831C>T	CCDS42981.1																																																																																				0.622	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		10	545	0	0	0	1	0	10	545				
SRBD1	55133	broad.mit.edu	37	2	45645577	45645577	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45645577G>T	ENST00000263736.4	-	18	2322	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	754					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTGGGCCCAGCCCTTTCACT	0.423																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(2260-2262)Ctg>Atg		S1 RNA binding domain 1							264.0	172.0	203.0					2																	45645577		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45645577G>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2260C>A	2.37:g.45645577G>T	ENSP00000263736:p.Leu754Met					SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M|SRBD1_ENST00000490133.1_5'UTR	p.L754M	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		18	2322	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	754					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2260C>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337017	0.60963	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.36340	1.57;1.26	5.96	5.08	0.68730	Tex RuvX-like domain (1);	0.200635	0.42964	N	0.000623	T	0.46776	0.1410	L	0.49699	1.58	0.40511	D	0.98073	D	0.53312	0.959	P	0.56960	0.81	T	0.50224	-0.8853	10	0.87932	D	0	.	10.3659	0.44024	0.0739:0.0:0.7898:0.1363	.	754	Q8N5C6	SRBD1_HUMAN	M	754;273	ENSP00000263736:L754M;ENSP00000441272:L273M	ENSP00000263736:L754M	L	-	1	2	SRBD1	45499081	1.000000	0.71417	0.807000	0.32361	0.798000	0.45092	2.663000	0.46774	1.520000	0.48965	-0.195000	0.12781	CTG		0.423	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		179	455	1	0	5.15675e-95	1	6.62639e-95	179	455				
NLRP3	114548	broad.mit.edu	37	1	247611772	247611772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247611772C>A	ENST00000336119.3	+	9	3823	c.3077C>A	c.(3076-3078)cCt>cAt	p.P1026H	NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000366497.2_Missense_Mutation_p.P969H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1026					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGAAAAGCCTGAGCTGACC	0.498																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2905-2907)cCt>cAt		NLR family, pyrin domain containing 3							101.0	101.0	101.0					1																	247611772		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247611772C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.3077C>A	1.37:g.247611772C>A	ENSP00000337383:p.Pro1026His					NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000336119.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H	p.P969H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		9	3686	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	1026					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2906C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270158	0.40194	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.76448	-0.89;-0.93;-0.89;-1.02;-0.93;-0.96	4.49	4.49	0.54785	.	0.000000	0.42420	D	0.000708	D	0.86590	0.5969	M	0.78916	2.43	0.33699	D	0.614343	D;B;D;B;D	0.76494	0.999;0.298;0.999;0.268;0.998	D;B;D;B;P	0.69824	0.966;0.384;0.938;0.111;0.879	D	0.90259	0.4299	10	0.72032	D	0.01	.	13.007	0.58710	0.0:1.0:0.0:0.0	.	1006;969;912;969;1026	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	1026;969;1026;912;969;969	ENSP00000375704:P1026H;ENSP00000355453:P969H;ENSP00000337383:P1026H;ENSP00000294752:P912H;ENSP00000355452:P969H;ENSP00000375703:P969H	ENSP00000337383:P1026H	P	+	2	0	NLRP3	245678395	0.944000	0.32072	0.967000	0.41034	0.372000	0.29890	2.457000	0.45005	2.779000	0.95612	0.637000	0.83480	CCT		0.498	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		15	398	1	0	4.7546e-09	1	4.99022e-09	15	398				
GCKR	2646	broad.mit.edu	37	2	27728602	27728602	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27728602C>T	ENST00000264717.2	+	10	831	c.768C>T	c.(766-768)ggC>ggT	p.G256G	GCKR_ENST00000424318.2_Silent_p.G66G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	256	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.		G -> S (in dbSNP:rs8179212). {ECO:0000269|Ref.3}.		carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTCTCAGCGGCTCCTCCCGGA	0.542																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(766-768)ggC>ggT		glucokinase (hexokinase 4) regulator							73.0	69.0	70.0					2																	27728602		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728602C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.768C>T	2.37:g.27728602C>T						GCKR_ENST00000424318.2_Silent_p.G66G	p.G256G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			10	831	+	Acute lymphoblastic leukemia(172;0.155)		256		G -> S (in dbSNP:rs8179212).	SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.768C>T	CCDS1757.1																																																																																				0.542	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		34	333	0	0	0	1	0	34	333				
ADD2	119	broad.mit.edu	37	2	70933384	70933384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933384G>A	ENST00000264436.4	-	3	601	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000407644.2_Missense_Mutation_p.R53C|ADD2_ENST00000413157.2_Missense_Mutation_p.R53C|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	53					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGGTGACGCGCTTCTTCTGC	0.642																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(157-159)Cgc>Tgc		adducin 2 (beta)							54.0	52.0	53.0					2																	70933384		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70933384G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.157C>T	2.37:g.70933384G>A	ENSP00000264436:p.Arg53Cys					ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C|ADD2_ENST00000413157.2_Missense_Mutation_p.R53C|ADD2_ENST00000407644.2_Missense_Mutation_p.R53C	p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			3	601	-			53					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.157C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389532	0.82902	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.89	2.93	0.34026	.	0.148312	0.41605	D	0.000847	T	0.58004	0.2092	M	0.88105	2.93	0.58432	D	0.999994	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	0.91635	0.991;0.999;0.974;0.999;0.999;0.975	T	0.65393	-0.6179	10	0.87932	D	0	-16.7794	10.5275	0.44957	0.0:0.0:0.5433:0.4567	.	69;53;53;53;53;53	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	53;53;53;53;53;53;53;53;53;69;53;53	ENSP00000264436:R53C;ENSP00000384677:R53C;ENSP00000347972:R53C;ENSP00000430243:R53C;ENSP00000388072:R53C;ENSP00000398112:R69C;ENSP00000412357:R53C;ENSP00000412681:R53C	ENSP00000264436:R53C	R	-	1	0	ADD2	70786892	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.883000	0.39658	1.385000	0.46445	0.591000	0.81541	CGC		0.642	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		16	351	0	0	0	1	0	16	351				
ARL4C	10123	broad.mit.edu	37	2	235404671	235404671	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235404671T>G	ENST00000390645.2	-	1	1026	c.560A>C	c.(559-561)aAg>aCg	p.K187T	ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	187					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CTTCTTCTGCTTGAGGGACTT	0.577																																					Esophageal Squamous(157;1837 2534 13028 22831)	ENST00000390645.2																			0				endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(559-561)aAg>aCg		ADP-ribosylation factor-like 4C							42.0	44.0	43.0					2																	235404671		1972	4153	6125	SO:0001583	missense	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235404671T>G	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.560A>C	2.37:g.235404671T>G	ENSP00000375057:p.Lys187Thr					ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	p.K187T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	1026	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	187					Q4A519|Q53R10|Q9BVN1|Q9UQ34	Missense_Mutation	SNP	ENST00000390645.2	37	c.560A>C	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557128	0.65425	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	T;T	0.69040	-0.37;-0.35	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.52905	1.665	0.47994	D	0.999565	P;D	0.57899	0.947;0.981	P;D	0.65140	0.727;0.932	T	0.78196	-0.2298	10	0.87932	D	0	-13.7263	12.4319	0.55578	0.0:0.0:0.0:1.0	.	187;187	P56559;Q4A519	ARL4C_HUMAN;.	T	187	ENSP00000375057:K187T;ENSP00000339754:K187T	ENSP00000339754:K187T	K	-	2	0	ARL4C	235069410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.993000	0.70616	1.679000	0.50963	0.455000	0.32223	AAG		0.577	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			54	257	0	0	0	1	0	54	257				
C1orf53	388722	broad.mit.edu	37	1	197875015	197875015	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197875015T>C	ENST00000367393.3	+	2	357	c.354T>C	c.(352-354)tcT>tcC	p.S118S	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	118										endometrium(1)|lung(1)	2						GTTGTGGCTCTGCGTGCAGAC	0.448																																						ENST00000367393.3																			0				endometrium(1)|lung(1)	2						c.(352-354)tcT>tcC		chromosome 1 open reading frame 53							172.0	164.0	167.0					1																	197875015		2034	4207	6241	SO:0001819	synonymous_variant	388722							g.chr1:197875015T>C	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.354T>C	1.37:g.197875015T>C						C1orf53_ENST00000542800.1_3'UTR	p.S118S	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN			2	357	+			118					A1L4N2|Q5VUE4	Silent	SNP	ENST00000367393.3	37	c.354T>C	CCDS44290.1	.	.	.	.	.	.	.	.	.	.	T	8.075	0.771042	0.16051	.	.	ENSG00000203724	ENST00000436652	.	.	.	5.73	-10.2	0.00374	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	-5.4769	1.0786	0.01638	0.193:0.3039:0.198:0.305	.	.	.	.	R	55	.	.	C	+	1	0	C1orf53	196141638	0.023000	0.18921	0.698000	0.30274	0.812000	0.45895	-1.303000	0.02743	-1.811000	0.01229	0.533000	0.62120	TGC		0.448	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		152	427	0	0	0	1	0	152	427				
C5orf45	51149	broad.mit.edu	37	5	179264406	179264406	+	Silent	SNP	G	G	A	rs552007127	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179264406G>A	ENST00000292586.6	-	7	1107	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	339										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CATCATCATCGAAGTCTTCCC	0.512													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18568	0.0		0.0	False		,,,				2504	0.001					ENST00000292586.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1015-1017)ttC>ttT		chromosome 5 open reading frame 45							182.0	184.0	183.0					5																	179264406		2203	4300	6503	SO:0001819	synonymous_variant	51149							g.chr5:179264406G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.1017C>T	5.37:g.179264406G>A						C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR	p.F339F	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN			7	1107	-			339					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	37	c.1017C>T	CCDS34319.1																																																																																				0.512	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		316	923	0	0	0	1	0	316	923				
KIDINS220	57498	broad.mit.edu	37	2	8871069	8871069	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1699					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCTCATCGAAATTTTGAT	0.468																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(5095-5097)ttC>ttT		kinase D-interacting substrate, 220kDa							120.0	111.0	114.0					2																	8871069		1908	4129	6037	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871069G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5097C>T	2.37:g.8871069G>A						KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	p.F1699F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	5278	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1699					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.5097C>T	CCDS42650.1																																																																																				0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		84	249	0	0	0	1	0	84	249				
PCDHB5	26167	broad.mit.edu	37	5	140515588	140515588	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140515588A>G	ENST00000231134.5	+	1	789	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCAGAAAATACCCAGAGCTG	0.552																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(571-573)tAc>tGc									74.0	74.0	74.0					5																	140515588		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515588A>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.572A>G	5.37:g.140515588A>G	ENSP00000231134:p.Tyr191Cys						p.Y191C	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	789	+			191			Cadherin 2.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.572A>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813791	0.50527	.	.	ENSG00000113209	ENST00000231134	T	0.20598	2.06	5.18	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55433	0.1920	H	0.95114	3.625	0.25307	N	0.989237	D	0.71674	0.998	D	0.72075	0.976	T	0.53208	-0.8471	9	0.87932	D	0	.	9.4626	0.38794	0.7278:0.0:0.0:0.2722	.	191	Q9Y5E4	PCDB5_HUMAN	C	191	ENSP00000231134:Y191C	ENSP00000231134:Y191C	Y	+	2	0	PCDHB5	140495772	0.000000	0.05858	1.000000	0.80357	0.927000	0.56198	-0.136000	0.10405	2.086000	0.62901	0.454000	0.30748	TAC		0.552	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		98	456	0	0	0	1	0	98	456				
LRP4	4038	broad.mit.edu	37	11	46920210	46920210	+	Missense_Mutation	SNP	C	C	A	rs370407081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46920210C>A	ENST00000378623.1	-	7	937	c.695G>T	c.(694-696)cGc>cTc	p.R232L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	232	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTCCCCAGAGCGGCAGGGCTG	0.592																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(694-696)cGc>cTc		low density lipoprotein receptor-related protein 4							145.0	140.0	142.0					11																	46920210		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920210C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.695G>T	11.37:g.46920210C>A	ENSP00000367888:p.Arg232Leu						p.R232L	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	7	937	-			232			LDL-receptor class A 6.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.695G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034911	0.75617	.	.	ENSG00000134569	ENST00000378623	D	0.95554	-3.74	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	L	0.31578	0.945	0.58432	D	0.999998	P;B	0.48089	0.905;0.092	P;B	0.50934	0.654;0.154	D	0.92893	0.6333	10	0.26408	T	0.33	.	19.11	0.93313	0.0:1.0:0.0:0.0	.	277;232	C9JRN7;O75096	.;LRP4_HUMAN	L	232	ENSP00000367888:R232L	ENSP00000367888:R232L	R	-	2	0	LRP4	46876786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.999000	0.70665	2.530000	0.85305	0.561000	0.74099	CGC		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		16	1002	1	0	1.05317e-09	1	1.11087e-09	16	1002				
SPATA31D1	389763	broad.mit.edu	37	9	84609292	84609292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84609292G>A	ENST00000344803.2	+	4	3954	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1303					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAAGGAGGAGAGCTTGATGG	0.542																																						ENST00000344803.2																			0											c.(3907-3909)Gag>Aag		SPATA31 subfamily D, member 1							35.0	36.0	35.0					9																	84609292		1937	4145	6082	SO:0001583	missense	389763							g.chr9:84609292G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3907G>A	9.37:g.84609292G>A	ENSP00000341988:p.Glu1303Lys						p.E1303K	NM_001001670.2	NP_001001670.1					4	3954	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3907G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646090	0.47258	.	.	ENSG00000214929	ENST00000344803	T	0.09630	2.96	3.26	0.291	0.15732	.	1.212120	0.06379	N	0.714970	T	0.07818	0.0196	L	0.34521	1.04	0.09310	N	1	P	0.46142	0.873	B	0.36959	0.237	T	0.34229	-0.9837	10	0.46703	T	0.11	-4.3388	5.5373	0.17018	0.3928:0.0:0.6072:0.0	.	1303	Q6ZQQ2	F75D1_HUMAN	K	1303	ENSP00000341988:E1303K	ENSP00000341988:E1303K	E	+	1	0	FAM75D1	83799112	0.022000	0.18835	0.001000	0.08648	0.009000	0.06853	1.405000	0.34635	0.060000	0.16281	0.655000	0.94253	GAG		0.542	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		36	172	0	0	0	1	0	36	172				
HIST1H2BF	8343	broad.mit.edu	37	6	26200158	26200158	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26200158C>A	ENST00000359985.1	+	1	411	c.372C>A	c.(370-372)agC>agA	p.S124R	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	124					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				AGTACACCAGCTCTAAGTAAT	0.527																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(370-372)agC>agA		histone cluster 1, H2bf							57.0	62.0	60.0					6																	26200158		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200158C>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.372C>A	6.37:g.26200158C>A	ENSP00000353074:p.Ser124Arg						p.S124R	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	411	+		all_hematologic(11;0.196)	124					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.372C>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.40	3.113885	0.56398	.	.	ENSG00000197846	ENST00000359985	T	0.24538	1.85	3.89	2.08	0.27032	.	0.000000	0.64402	D	0.000004	T	0.18509	0.0444	.	.	.	0.30597	N	0.760949	.	.	.	.	.	.	T	0.03717	-1.1010	7	0.87932	D	0	.	9.6316	0.39782	0.0:0.8218:0.0:0.1782	.	.	.	.	R	124	ENSP00000353074:S124R	ENSP00000353074:S124R	S	+	3	2	HIST1H2BF	26308137	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	2.138000	0.42140	0.384000	0.24942	-0.827000	0.03088	AGC		0.527	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		53	278	1	0	7.36392e-32	1	8.68075e-32	53	278				
PROP1	5626	broad.mit.edu	37	5	177421242	177421242	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177421242C>T	ENST00000308304.2	-	2	515	c.207G>A	c.(205-207)cgG>cgA	p.R69R		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	69					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGCGGCGCCGGGAGTGCG	0.657																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(205-207)cgG>cgA		PROP paired-like homeobox 1							36.0	39.0	38.0					5																	177421242		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177421242C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.207G>A	5.37:g.177421242C>T							p.R69R	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	515	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	69						Silent	SNP	ENST00000308304.2	37	c.207G>A	CCDS4430.1																																																																																				0.657	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		75	361	0	0	0	1	0	75	361				
RIOK3	8780	broad.mit.edu	37	18	21057190	21057190	+	Silent	SNP	C	C	T	rs56187215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21057190C>T	ENST00000339486.3	+	11	1919	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	RIOK3_ENST00000581585.1_Silent_p.H418H|RIOK3_ENST00000577501.1_Silent_p.H434H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(1300-1302)caC>caT		RIO kinase 3							156.0	138.0	144.0					18																	21057190		2203	4300	6503	SO:0001819	synonymous_variant	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21057190C>T	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1302C>T	18.37:g.21057190C>T						RIOK3_ENST00000581585.1_Silent_p.H418H|RIOK3_ENST00000577501.1_Silent_p.H434H	p.H434H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			11	1919	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		434			Protein kinase.		Q8IXN9	Silent	SNP	ENST00000339486.3	37	c.1302C>T	CCDS11877.1																																																																																				0.413	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		101	385	0	0	0	1	0	101	385				
PIAS4	51588	broad.mit.edu	37	19	4037768	4037768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4037768G>A	ENST00000262971.2	+	11	1543	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	476	Asp/Glu-rich (acidic).				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTCCTCggaggatgagg	0.701																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(1426-1428)tcG>tcA		protein inhibitor of activated STAT, 4							17.0	16.0	16.0					19																	4037768		2188	4284	6472	SO:0001819	synonymous_variant	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4037768G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1428G>A	19.37:g.4037768G>A							p.S476S	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1543	+			476			Asp/Glu-rich (acidic).		O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	c.1428G>A	CCDS12118.1																																																																																				0.701	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		19	73	0	0	0	1	0	19	73				
NEURL4	84461	broad.mit.edu	37	17	7228226	7228226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228226G>A	ENST00000399464.2	-	9	1720	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C|NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	569	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R569C(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTCGATGCGCACCTGGAAC	0.577											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			2	Substitution - Missense(2)	p.R569C(2)	large_intestine(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1705-1707)Cgc>Tgc		neuralized E3 ubiquitin protein ligase 4							199.0	210.0	206.0					17																	7228226		2180	4275	6455	SO:0001583	missense	84461							g.chr17:7228226G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1705C>T	17.37:g.7228226G>A	ENSP00000382390:p.Arg569Cys		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C	p.R569C	NM_032442.2	NP_115818.2					9	1720	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1705C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902919	0.92035	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74209	-0.82;-0.82	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.059752	0.64402	D	0.000002	D	0.88651	0.6494	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90554	0.4511	10	0.87932	D	0	-18.7945	17.9982	0.89191	0.0:0.0:1.0:0.0	.	569;569	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	569	ENSP00000319826:R569C;ENSP00000382390:R569C	ENSP00000319826:R569C	R	-	1	0	NEURL4	7168950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.700000	0.84556	2.608000	0.88229	0.655000	0.94253	CGC		0.577	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		152	644	0	0	0	1	0	152	644				
BRCA1	672	broad.mit.edu	37	17	41223162	41223162	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41223162A>G	ENST00000357654.3	-	15	4887	c.4769T>C	c.(4768-4770)gTt>gCt	p.V1590A	BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.V1294A|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1590					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATGTTGCCAACACGAGCTGA	0.488			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(3880-3882)gTt>gCt	Homologous recombination	breast cancer 1, early onset							134.0	133.0	133.0					17																	41223162		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41223162A>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4769T>C	17.37:g.41223162A>G	ENSP00000350283:p.Val1590Ala	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A|BRCA1_ENST00000357654.3_Missense_Mutation_p.V1590A	p.V1294A	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	4908	-		Breast(137;0.000717)	1590					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.3881T>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	A	9.385	1.073954	0.20147	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.91407	-2.46;-2.52;-2.58;-2.36;-2.62;-2.84;-2.58;-2.43;-2.35;-2.58	4.56	2.26	0.28386	.	0.779810	0.11235	N	0.585222	T	0.81173	0.4767	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B;B;B;B	0.29612	0.001;0.103;0.001;0.251;0.001;0.001;0.0;0.003	B;B;B;B;B;B;B;B	0.24269	0.003;0.031;0.003;0.052;0.003;0.003;0.001;0.008	T	0.70200	-0.4937	10	0.54805	T	0.06	.	4.7124	0.12879	0.7079:0.1919:0.1003:0.0	.	486;439;485;487;486;1612;1590;1590	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	A	1590;1611;448;407;1294;486;439;1612;1543;485;486;361;440	ENSP00000350283:V1590A;ENSP00000312236:V448A;ENSP00000338007:V407A;ENSP00000310938:V1294A;ENSP00000417148:V486A;ENSP00000377294:V439A;ENSP00000418775:V1543A;ENSP00000420412:V486A;ENSP00000419481:V361A;ENSP00000418819:V440A	ENSP00000310938:V1294A	V	-	2	0	BRCA1	38476688	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.225000	0.17757	0.331000	0.23511	-0.411000	0.06167	GTT		0.488	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		124	616	0	0	0	1	0	124	616				
UBR2	23304	broad.mit.edu	37	6	42613320	42613320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42613320C>T	ENST00000372899.1	+	21	2659	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	UBR2_ENST00000372901.1_Missense_Mutation_p.P801S|UBR2_ENST00000372883.3_Missense_Mutation_p.P305S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	801					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGTCTTTACCTGAAGATGT	0.363																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2401-2403)Cct>Tct		ubiquitin protein ligase E3 component n-recognin 2							101.0	98.0	99.0					6																	42613320		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42613320C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2401C>T	6.37:g.42613320C>T	ENSP00000361990:p.Pro801Ser					UBR2_ENST00000372901.1_Missense_Mutation_p.P801S|UBR2_ENST00000372883.3_Missense_Mutation_p.P305S	p.P801S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		21	2659	+	Colorectal(47;0.196)		801					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2401C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796127	0.90453	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.49432	0.78;0.78;0.78	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.65498	2.005	0.80722	D	1	D;P	0.89917	1.0;0.739	D;P	0.91635	0.999;0.574	T	0.53878	-0.8376	10	0.31617	T	0.26	-24.2107	19.9659	0.97266	0.0:1.0:0.0:0.0	.	801;801	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	801;801;305	ENSP00000361990:P801S;ENSP00000361992:P801S;ENSP00000361974:P305S	ENSP00000361974:P305S	P	+	1	0	UBR2	42721298	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.356000	0.79445	2.802000	0.96397	0.650000	0.86243	CCT		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		50	313	0	0	0	1	0	50	313				
SHROOM1	134549	broad.mit.edu	37	5	132160428	132160428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160428C>A	ENST00000378679.3	-	6	1924	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*|SHROOM1_ENST00000378676.1_Intron	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	374					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAGGTCTCTGAGACCCTC	0.582																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1120-1122)Gag>Tag		shroom family member 1							74.0	80.0	78.0					5																	132160428		2203	4300	6503	SO:0001587	stop_gained	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160428C>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1120G>T	5.37:g.132160428C>A	ENSP00000367950:p.Glu374*					SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*|SHROOM1_ENST00000378676.1_Intron	p.E374*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1924	-			374					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	ENST00000378679.3	37	c.1120G>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010848	0.93346	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	.	.	.	3.49	2.58	0.30949	.	1.873330	0.02512	N	0.091585	.	.	.	.	.	.	0.29218	N	0.874146	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.639	6.0514	0.19787	0.0:0.8501:0.0:0.1499	.	.	.	.	X	374	.	ENSP00000324245:E374X	E	-	1	0	SHROOM1	132188327	0.001000	0.12720	0.297000	0.24988	0.651000	0.38670	0.293000	0.19029	0.986000	0.38683	0.561000	0.74099	GAG		0.582	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		20	474	1	0	1.37522e-17	1	1.51956e-17	20	474				
TTN	7273	broad.mit.edu	37	2	179414764	179414764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179414764C>A	ENST00000591111.1	-	287	87102	c.86878G>T	c.(86878-86880)Gcc>Tcc	p.A28960S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30601S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28960	Ig-like 133.				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)			GCATTTTTGGCTTCCACTGTG	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.(91801-91803)Gcc>Tcc		titin							140.0	138.0	139.0					2																	179414764		1861	4092	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414764C>A	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.86878G>T	2.37:g.179414764C>A	ENSP00000465570:p.Ala28960Ser					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28960S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.A30601S	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)		337	92025	-			28960			Fibronectin type-III 123.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.91801G>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.611908	0.87258	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92299	0.7557	H	0.95539	3.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.93650	0.6972	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	21536;21661;21728;28960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28033;21536;21728;21661;21533	ENSP00000343764:A28033S;ENSP00000434586:A21536S;ENSP00000340554:A21728S;ENSP00000352154:A21661S	ENSP00000340554:A21728S	A	-	1	0	TTN	179123010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	GCC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	432	1	0	0.00136819	1	0.0013818	12	432				
ZNF311	282890	broad.mit.edu	37	6	28967386	28967386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28967386G>A	ENST00000377179.3	-	5	700	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AAATGTCACTGACTCCTGAAA	0.438																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(187-189)tCa>tTa		zinc finger protein 311							118.0	84.0	96.0					6																	28967386		1511	2709	4220	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28967386G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.188C>T	6.37:g.28967386G>A	ENSP00000366384:p.Ser63Leu					ZNF311_ENST00000483450.1_5'UTR	p.S63L	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			5	700	-			63					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.188C>T	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033476	0.19590	.	.	ENSG00000197935	ENST00000377179	T	0.00737	5.76	3.48	-0.559	0.11792	Krueppel-associated box (1);	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27673	-1.0067	9	0.15952	T	0.53	0.0796	0.4756	0.00539	0.3388:0.1782:0.3009:0.1821	.	63	Q5JNZ3	ZN311_HUMAN	L	63	ENSP00000366384:S63L	ENSP00000366384:S63L	S	-	2	0	ZNF311	29075365	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	0.429000	0.21412	-0.041000	0.13558	0.585000	0.79938	TCA		0.438	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		48	168	0	0	0	1	0	48	168				
C17orf102	400591	broad.mit.edu	37	17	32906007	32906007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32906007C>T	ENST00000357754.1	-	1	381	c.293G>A	c.(292-294)gGg>gAg	p.G98E	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	98			G -> R (in dbSNP:rs58529418). {ECO:0000269|PubMed:14702039}.							central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCCAGAGCCCCCGCGGCCCGA	0.672																																						ENST00000357754.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(292-294)gGg>gAg		chromosome 17 open reading frame 102							45.0	52.0	50.0					17																	32906007		1864	4091	5955	SO:0001583	missense	400591							g.chr17:32906007C>T		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.293G>A	17.37:g.32906007C>T	ENSP00000350392:p.Gly98Glu						p.G98E	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN			1	381	-			98		G -> R (in dbSNP:rs58529418).			A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	c.293G>A	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744526	0.30865	.	.	ENSG00000197322	ENST00000357754	T	0.46063	0.88	3.33	2.3	0.28687	.	1.147840	0.06879	U	0.802091	T	0.45796	0.1360	N	0.19112	0.55	0.09310	N	1	D	0.61697	0.99	P	0.61592	0.891	T	0.40572	-0.9556	10	0.87932	D	0	.	8.3172	0.32108	0.0:0.755:0.2449:0.0	.	98	A2RUQ5	CQ102_HUMAN	E	98	ENSP00000350392:G98E	ENSP00000350392:G98E	G	-	2	0	C17orf102	29930120	0.020000	0.18652	0.000000	0.03702	0.019000	0.09904	0.831000	0.27476	0.663000	0.31027	0.655000	0.94253	GGG		0.672	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		160	590	0	0	0	1	0	160	590				
HUS1B	135458	broad.mit.edu	37	6	656841	656841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656841C>T	ENST00000380907.2	-	1	122	c.104G>A	c.(103-105)cGc>cAc	p.R35H	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	35					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCTGTCAGGGCGCACGCGGAG	0.667																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(103-105)cGc>cAc		HUS1 checkpoint homolog b (S. pombe)							28.0	26.0	26.0					6																	656841		2202	4296	6498	SO:0001583	missense	135458							g.chr6:656841C>T	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.104G>A	6.37:g.656841C>T	ENSP00000370293:p.Arg35His					EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.R35H	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	122	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	35					Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	c.104G>A	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697071	0.30142	.	.	ENSG00000188996	ENST00000380907	T	0.11277	2.79	2.77	1.85	0.25348	.	0.428272	0.20386	U	0.093349	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	P	0.46277	0.875	B	0.39590	0.304	T	0.42292	-0.9460	10	0.44086	T	0.13	.	7.4847	0.27425	0.0:0.7314:0.2686:0.0	.	35	Q8NHY5	HUS1B_HUMAN	H	35	ENSP00000370293:R35H	ENSP00000370293:R35H	R	-	2	0	HUS1B	601841	0.053000	0.20554	0.001000	0.08648	0.012000	0.07955	0.084000	0.14891	0.709000	0.31976	0.491000	0.48974	CGC		0.667	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		41	154	0	0	0	1	0	41	154				
FHDC1	85462	broad.mit.edu	37	4	153897796	153897796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897796C>A	ENST00000511601.1	+	12	3541	c.3353C>A	c.(3352-3354)gCt>gAt	p.A1118D	FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1118									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAGAGGGGCTGGGGAAAGG	0.657																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3352-3354)gCt>gAt		FH2 domain containing 1							13.0	15.0	14.0					4																	153897796		2195	4293	6488	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897796C>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3353C>A	4.37:g.153897796C>A	ENSP00000427567:p.Ala1118Asp					FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D	p.A1118D			Q9C0D6	FHDC1_HUMAN			12	3541	+	all_hematologic(180;0.093)		1118						Missense_Mutation	SNP	ENST00000511601.1	37	c.3353C>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001636	0.35320	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.32515	1.45;1.45	5.42	-1.08	0.09936	.	1.740290	0.02777	N	0.120404	T	0.19846	0.0477	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20009	-1.0288	10	0.45353	T	0.12	.	4.6293	0.12493	0.2264:0.3667:0.0:0.4069	.	1118	Q9C0D6	FHDC1_HUMAN	D	1118	ENSP00000427567:A1118D;ENSP00000260008:A1118D	ENSP00000260008:A1118D	A	+	2	0	FHDC1	154117246	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.058000	0.14301	-0.286000	0.09076	-0.181000	0.13052	GCT		0.657	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		24	75	1	0	1.22574e-08	1	1.28258e-08	24	75				
PDE4D	5144	broad.mit.edu	37	5	58511691	58511691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58511691G>A	ENST00000340635.6	-	2	734	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	187					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GACTCCCGTCGTTGACTGTGG	0.517																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(559-561)Cga>Tga		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						103.0	102.0	103.0					5																	58511691		1910	4125	6035	SO:0001587	stop_gained	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58511691G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.559C>T	5.37:g.58511691G>A	ENSP00000345502:p.Arg187*					PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*	p.R187*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	2	734	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	187					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Nonsense_Mutation	SNP	ENST00000340635.6	37	c.559C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	44	10.868730	0.99481	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	.	.	.	4.66	3.8	0.43715	.	0.284954	0.32548	N	0.005949	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.142	0.31089	0.0804:0.0:0.7639:0.1557	.	.	.	.	X	187;56;51;123;57;65;126;126;123	.	ENSP00000308485:R123X	R	-	1	2	PDE4D	58547448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.286000	0.72665	1.090000	0.41315	0.591000	0.81541	CGA		0.517	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			57	264	0	0	0	1	0	57	264				
ASIC4	55515	broad.mit.edu	37	2	220379912	220379912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379912C>T	ENST00000347842.3	+	1	861	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.R283C	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	283					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GGCTGGCCTGCGCTACCCAGA	0.627																																						ENST00000358078.4																			0											c.(847-849)Cgc>Tgc		acid-sensing (proton-gated) ion channel family member 4							55.0	48.0	51.0					2																	220379912		2203	4299	6502	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379912C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.847C>T	2.37:g.220379912C>T	ENSP00000326627:p.Arg283Cys					ASIC4_ENST00000347842.3_Missense_Mutation_p.R283C|AC053503.11_ENST00000429882.1_RNA	p.R283C			Q96FT7	ACCN4_HUMAN			1	861	+			283					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.847C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819936	0.71028	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.65364	-0.15;-0.15	4.52	3.64	0.41730	.	0.627114	0.14692	N	0.304087	T	0.69450	0.3112	L	0.39245	1.2	0.47245	D	0.999361	D;D;D	0.76494	0.997;0.999;0.992	P;D;P	0.65987	0.827;0.94;0.681	T	0.69327	-0.5174	10	0.66056	D	0.02	-21.738	12.1941	0.54288	0.0:0.9159:0.0:0.084	.	283;283;283	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	C	283	ENSP00000326627:R283C;ENSP00000350786:R283C	ENSP00000326627:R283C	R	+	1	0	ACCN4	220088156	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	2.003000	0.40844	1.119000	0.41883	0.655000	0.94253	CGC		0.627	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		61	316	0	0	0	1	0	61	316				
SHOC2	8036	broad.mit.edu	37	10	112771563	112771563	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112771563G>A	ENST00000369452.4	+	9	2081	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	579					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GGTCCATATCGTGCCATGGTC	0.398																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(1735-1737)cGt>cAt		soc-2 suppressor of clear homolog (C. elegans)							70.0	69.0	70.0					10																	112771563		2203	4300	6503	SO:0001583	missense	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112771563G>A	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1736G>A	10.37:g.112771563G>A	ENSP00000358464:p.Arg579His					SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	p.R579H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	9	2081	+			579					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	c.1736G>A	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703277	0.68501	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.39229	1.48;1.09;1.37	5.64	4.74	0.60224	.	0.045276	0.85682	N	0.000000	T	0.58323	0.2114	L	0.49126	1.545	0.80722	D	1	B;D	0.89917	0.003;1.0	B;D	0.74023	0.002;0.982	T	0.61729	-0.7003	10	0.72032	D	0.01	.	14.7556	0.69560	0.07:0.0:0.93:0.0	.	533;579	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	H	533;579;369	ENSP00000265277:R533H;ENSP00000358464:R579H;ENSP00000408275:R369H	ENSP00000265277:R533H	R	+	2	0	SHOC2	112761553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.803000	0.99136	1.369000	0.46134	0.655000	0.94253	CGT		0.398	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		64	289	0	0	0	1	0	64	289				
TEX2	55852	broad.mit.edu	37	17	62291232	62291232	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62291232G>A	ENST00000583097.1	-	2	518	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	TEX2_ENST00000584379.1_Silent_p.L116L|TEX2_ENST00000258991.3_Silent_p.L116L			Q8IWB9	TEX2_HUMAN	testis expressed 2	116					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GACTCCAACAGCTTTACAGTG	0.607																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(346-348)Ctg>Ttg		testis expressed 2							87.0	93.0	91.0					17																	62291232		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291232G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.346C>T	17.37:g.62291232G>A						TEX2_ENST00000584379.1_Silent_p.L116L|TEX2_ENST00000583097.1_Silent_p.L116L	p.L116L			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	430	-			116					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.346C>T																																																																																					0.607	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		24	793	0	0	0	1	0	24	793				
EXOC1	55763	broad.mit.edu	37	4	56770575	56770575	+	Missense_Mutation	SNP	C	C	T	rs546749405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56770575C>T	ENST00000381295.2	+	19	2947	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C|EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	867					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R867C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATAGCTCGCTGTTATCC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18372	0.0		0.001	False		,,,				2504	0.0					ENST00000381295.2																			1	Substitution - Missense(1)	p.R867C(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2599-2601)Cgc>Tgc		exocyst complex component 1							193.0	179.0	184.0					4																	56770575		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56770575C>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2599C>T	4.37:g.56770575C>T	ENSP00000370695:p.Arg867Cys					EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C|EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C	p.R867C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			19	2947	+	Glioma(25;0.08)|all_neural(26;0.101)		867					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2599C>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927465	0.73327	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.26	5.26	0.73747	.	0.053203	0.64402	D	0.000001	T	0.76364	0.3977	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.66716	0.87;0.946	T	0.79145	-0.1924	9	0.87932	D	0	.	13.7799	0.63077	0.1536:0.8464:0.0:0.0	.	852;867	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	C	867;867;852	.	ENSP00000326514:R867C	R	+	1	0	EXOC1	56465332	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.605000	0.61119	2.437000	0.82529	0.563000	0.77884	CGC		0.383	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		98	399	0	0	0	1	0	98	399				
KLHL20	27252	broad.mit.edu	37	1	173744779	173744779	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744779G>A	ENST00000209884.4	+	10	1572	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	479					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACAGTGGAACGTTACAATCCT	0.438																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1435-1437)cGt>cAt		kelch-like family member 20							73.0	69.0	70.0					1																	173744779		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173744779G>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1436G>A	1.37:g.173744779G>A	ENSP00000209884:p.Arg479His					KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	p.R479H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			10	1572	+			479					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1436G>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861815	0.32884	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.81247	-1.47;-1.47	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	H	0.96208	3.785	0.80722	D	1	P;P	0.41393	0.646;0.748	B;B	0.42138	0.303;0.377	D	0.85542	0.1216	10	0.15499	T	0.54	.	17.8879	0.88862	0.0:0.0:1.0:0.0	.	290;479	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	H	290;479	ENSP00000443121:R290H;ENSP00000209884:R479H	ENSP00000209884:R479H	R	+	2	0	KLHL20	172011402	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.296000	0.96104	2.524000	0.85096	0.655000	0.94253	CGT		0.438	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		72	181	0	0	0	1	0	72	181				
CELF4	56853	broad.mit.edu	37	18	34839169	34839169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34839169C>T	ENST00000591282.1	-	11	1307	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CELF4_ENST00000412753.1_Silent_p.E435E|CELF4_ENST00000420428.2_Silent_p.E436E|CELF4_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000601019.1_Silent_p.E434E|CELF4_ENST00000588597.1_Silent_p.E424E			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	436	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCTGCATCAGCTCAGCGTCCC	0.562																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1306-1308)gaG>gaA		CUGBP, Elav-like family member 4							75.0	64.0	67.0					18																	34839169		2203	4300	6503	SO:0001819	synonymous_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34839169C>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1308G>A	18.37:g.34839169C>T						CELF4_ENST00000412753.1_Silent_p.E435E|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000588597.1_Silent_p.E424E|CELF4_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000591282.1_Silent_p.E436E|CELF4_ENST00000601019.1_Silent_p.E434E	p.E436E	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			11	1703	-			436			RRM 3.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.1308G>A	CCDS32818.1																																																																																				0.562	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		29	145	0	0	0	1	0	29	145				
WDR16	146845	broad.mit.edu	37	17	9489210	9489210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9489210G>A	ENST00000576499.1	+	2	205	c.191G>A	c.(190-192)gGc>gAc	p.G64D	WDR16_ENST00000299764.5_Missense_Mutation_p.G74D|WDR16_ENST00000352665.5_Missense_Mutation_p.G64D|WDR16_ENST00000396219.3_Intron					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGGGTCATGGCAACAACGTC	0.473																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(190-192)gGc>gAc		WD repeat domain 16							201.0	178.0	185.0					17																	9489210		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9489210G>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.191G>A	17.37:g.9489210G>A	ENSP00000476293:p.Gly64Asp					WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Missense_Mutation_p.G74D	p.G64D	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			2	260	+			64						Missense_Mutation	SNP	ENST00000576499.1	37	c.191G>A		.	.	.	.	.	.	.	.	.	.	G	0.033	-1.324719	0.01309	.	.	ENSG00000166596	ENST00000352665;ENST00000299764	T;T	0.59502	0.26;0.26	5.86	-1.66	0.08265	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.436137	0.27236	N	0.020293	T	0.27731	0.0682	N	0.12611	0.24	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.19811	-1.0294	10	0.09590	T	0.72	-3.5552	6.1656	0.20388	0.4481:0.2334:0.3185:0.0	.	74;64	Q8N1V2-2;Q8N1V2	.;WDR16_HUMAN	D	64;74	ENSP00000339449:G64D;ENSP00000299764:G74D	ENSP00000299764:G74D	G	+	2	0	WDR16	9429935	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.843000	0.27640	-0.189000	0.10482	-0.224000	0.12420	GGC		0.473	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2	NM_145054		159	652	0	0	0	1	0	159	652				
SOX6	55553	broad.mit.edu	37	11	16077436	16077436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16077436G>A	ENST00000352083.6	-	10	1190	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528252.1_Silent_p.A330A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000316399.6_Silent_p.A371A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	371					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCTGAGCGGCATAGAGCT	0.448																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1111-1113)gcC>gcT		SRY (sex determining region Y)-box 6							98.0	86.0	90.0					11																	16077436		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16077436G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1113C>T	11.37:g.16077436G>A						SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000528252.1_Silent_p.A330A|SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A	p.A371A			P35712	SOX6_HUMAN			10	1190	-			371					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1113C>T																																																																																					0.448	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		51	231	0	0	0	1	0	51	231				
PXN	5829	broad.mit.edu	37	12	120660699	120660699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120660699C>T	ENST00000228307.7	-	4	601	c.460G>A	c.(460-462)Gct>Act	p.A154T	PXN_ENST00000458477.2_Missense_Mutation_p.A21T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.A152T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000267257.7_Missense_Mutation_p.A154T	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	154					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGTACAGCGTTCAGTTCC	0.612																																						ENST00000536957.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(454-456)Gct>Act		paxillin							82.0	84.0	83.0					12																	120660699		2012	4186	6198	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120660699C>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.460G>A	12.37:g.120660699C>T	ENSP00000228307:p.Ala154Thr					PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Missense_Mutation_p.A154T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000267257.7_Missense_Mutation_p.A154T|PXN_ENST00000458477.2_Missense_Mutation_p.A21T	p.A152T			P49023	PAXI_HUMAN			4	929	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		154					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.454G>A	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790286	0.70337	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331;ENST00000546532;ENST00000548912;ENST00000552550	T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.73799	-0.3869	10	0.17369	T	0.5	-8.7967	18.7469	0.91797	0.0:1.0:0.0:0.0	.	154;154;154	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	T	21;154;154;152;154;155;21;21;21	ENSP00000395536:A21T;ENSP00000228307:A154T;ENSP00000391283:A154T;ENSP00000443887:A152T;ENSP00000267257:A154T;ENSP00000443745:A155T;ENSP00000447180:A21T;ENSP00000446607:A21T;ENSP00000446650:A21T	ENSP00000228307:A154T	A	-	1	0	PXN	119145082	1.000000	0.71417	0.524000	0.27887	0.323000	0.28346	4.467000	0.60155	2.442000	0.82660	0.591000	0.81541	GCT		0.612	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		37	148	0	0	0	1	0	37	148				
WDR48	57599	broad.mit.edu	37	3	39111170	39111170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39111170C>A	ENST00000302313.5	+	7	635	c.607C>A	c.(607-609)Cta>Ata	p.L203I	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	203					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGTGCAAAACTAATGAAGCT	0.353																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(607-609)Cta>Ata		WD repeat domain 48							161.0	153.0	156.0					3																	39111170		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39111170C>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.607C>A	3.37:g.39111170C>A	ENSP00000307491:p.Leu203Ile					WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I	p.L203I	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	635	+			203					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.607C>A	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830680	0.50845	.	.	ENSG00000114742	ENST00000302313;ENST00000396258;ENST00000441361	T;T;T	0.61859	2.18;2.17;0.07	5.69	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.28014	0.82	0.80722	D	1	B;B;B	0.18610	0.012;0.029;0.027	B;B;B	0.19666	0.015;0.023;0.026	T	0.14309	-1.0477	10	0.22109	T	0.4	-2.2119	10.1084	0.42548	0.0:0.7781:0.0:0.2219	.	121;194;203	Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	I	203;121;133	ENSP00000307491:L203I;ENSP00000379557:L121I;ENSP00000416900:L133I	ENSP00000307491:L203I	L	+	1	2	WDR48	39086174	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	3.343000	0.52167	0.822000	0.34565	0.655000	0.94253	CTA		0.353	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		86	418	1	0	1.41219e-46	1	1.73556e-46	86	418				
DNAH12	201625	broad.mit.edu	37	3	57494904	57494904	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494904G>A	ENST00000351747.2	-	6	685	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	DNAH12_ENST00000311202.6_Missense_Mutation_p.L169F|DNAH12_ENST00000389536.4_Missense_Mutation_p.L169F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	169	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCATCTTCAAGCGATTTAACT	0.308																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(505-507)Ctt>Ttt		dynein, axonemal, heavy chain 12							83.0	84.0	84.0					3																	57494904		2203	4299	6502	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57494904G>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.505C>T	3.37:g.57494904G>A	ENSP00000295937:p.Leu169Phe					DNAH12_ENST00000389536.4_Missense_Mutation_p.L169F|DNAH12_ENST00000311202.6_Missense_Mutation_p.L169F	p.L169F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			6	685	-			169			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.505C>T		.	.	.	.	.	.	.	.	.	.	G	18.36	3.607305	0.66558	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.26957	1.88;1.7;3.07;2.57	5.68	5.68	0.88126	.	0.214824	0.33854	N	0.004484	T	0.44582	0.1300	L	0.36672	1.1	0.80722	D	1	B;D	0.76494	0.418;0.999	B;D	0.85130	0.132;0.997	T	0.19712	-1.0297	10	0.51188	T	0.08	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	169;169	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	F	169	ENSP00000295937:L169F;ENSP00000418137:L169F;ENSP00000374187:L169F;ENSP00000312554:L169F	ENSP00000312554:L169F	L	-	1	0	DNAH12	57469944	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.582000	0.60957	2.698000	0.92095	0.585000	0.79938	CTT		0.308	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		10	388	0	0	0	1	0	10	388				
TCF20	6942	broad.mit.edu	37	22	42609955	42609955	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609955A>G	ENST00000359486.3	-	1	1493	c.1357T>C	c.(1357-1359)Ttg>Ctg	p.L453L	TCF20_ENST00000335626.4_Silent_p.L453L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AAACTACTCAACCCAGGATCT	0.488																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1357-1359)Ttg>Ctg		transcription factor 20 (AR1)							99.0	100.0	99.0					22																	42609955		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609955A>G	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1357T>C	22.37:g.42609955A>G						TCF20_ENST00000335626.4_Silent_p.L453L	p.L453L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1493	-			453					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.1357T>C	CCDS14033.1																																																																																				0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		38	529	0	0	0	1	0	38	529				
SULT1A2	6799	broad.mit.edu	37	16	28604766	28604766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28604766C>A	ENST00000395630.1	-	5	846	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGCCCACCTTCTCCAGCCATG	0.572																																						ENST00000395630.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(496-498)Gaa>Taa		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							141.0	136.0	137.0					16																	28604766		2197	4300	6497	SO:0001587	stop_gained	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28604766C>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.496G>T	16.37:g.28604766C>A	ENSP00000378992:p.Glu166*					SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*	p.E166*	NM_177528.2	NP_803564.1	P50226	ST1A2_HUMAN			5	846	-			166					A9QY25|P78393|Q14CJ7	Nonsense_Mutation	SNP	ENST00000395630.1	37	c.496G>T	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	c	15.58	2.875264	0.51695	.	.	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	.	.	.	4.6	-9.2	0.00682	.	0.747635	0.12823	N	0.436265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4016	0.32590	0.0:0.1891:0.2499:0.561	.	.	.	.	X	166	.	ENSP00000338742:E166X	E	-	1	0	SULT1A2	28512267	0.002000	0.14202	0.826000	0.32828	0.145000	0.21501	-0.098000	0.11024	-1.320000	0.02283	-0.300000	0.09419	GAA		0.572	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		86	379	1	0	2.3666e-43	1	2.88907e-43	86	379				
HESX1	8820	broad.mit.edu	37	3	57232919	57232919	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57232919G>A	ENST00000295934.3	-	2	255	c.219C>T	c.(217-219)agC>agT	p.S73S	HESX1_ENST00000473921.1_Silent_p.S73S	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	73					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GATCCACCACGCTAGGGAATG	0.393																																					Esophageal Squamous(84;267 1272 9034 48993 52677)	ENST00000295934.3																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7						c.(217-219)agC>agT		HESX homeobox 1							185.0	208.0	200.0					3																	57232919		2203	4300	6503	SO:0001819	synonymous_variant	8820					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:57232919G>A	AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.219C>T	3.37:g.57232919G>A						HESX1_ENST00000473921.1_Silent_p.S73S	p.S73S	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)	2	255	-			73					Q52LC5|Q99667	Silent	SNP	ENST00000295934.3	37	c.219C>T	CCDS2881.1																																																																																				0.393	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2			276	1194	0	0	0	1	0	276	1194				
SLC2A14	144195	broad.mit.edu	37	12	7985383	7985383	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7985383T>C	ENST00000543909.1	-	8	874	c.115A>G	c.(115-117)Aca>Gca	p.T39A	SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	39					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTAGCAACTGTGATGGCAAAG	0.453											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(115-117)Aca>Gca		solute carrier family 2 (facilitated glucose transporter), member 14							101.0	93.0	96.0					12																	7985383		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7985383T>C	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.115A>G	12.37:g.7985383T>C	ENSP00000440480:p.Thr39Ala		OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000542505.1_Intron	p.T39A			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	8	874	-			39					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.115A>G	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076820	0.20227	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383;ENST00000535587	T;T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	2.45	-4.91	0.03085	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.714646	0.13364	N	0.393459	T	0.42607	0.1210	N	0.05592	-0.015	0.09310	N	0.999999	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.006	T	0.37009	-0.9724	10	0.11182	T	0.66	.	4.7116	0.12875	0.6321:0.1178:0.0:0.2501	.	54;16;39	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	A	16;39;16;39;54;16;16;16;39;39;16;16;16	ENSP00000340450:T16A;ENSP00000440480:T39A;ENSP00000407287:T16A;ENSP00000379834:T39A;ENSP00000445929:T54A;ENSP00000440043:T16A;ENSP00000438312:T16A;ENSP00000443217:T16A;ENSP00000440044:T39A;ENSP00000437653:T39A;ENSP00000442402:T16A;ENSP00000443076:T16A	ENSP00000340450:T16A	T	-	1	0	SLC2A14	7876650	0.000000	0.05858	0.003000	0.11579	0.894000	0.52154	-0.909000	0.04058	-1.551000	0.01706	-0.879000	0.02964	ACA		0.453	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		12	274	0	0	0	1	0	12	274				
NACA	4666	broad.mit.edu	37	12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	304	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCCCAGAGAAATGGGAAA	0.483			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(910-912)tCt>tAt		nascent polypeptide-associated complex alpha subunit							57.0	55.0	55.0					12																	57114403		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114403G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.911C>A	12.37:g.57114403G>T	ENSP00000403817:p.Ser304Tyr					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y	p.S304Y	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1192	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.911C>A		.	.	.	.	.	.	.	.	.	.	g	10.65	1.410132	0.25465	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.61158	0.13;0.46	3.97	3.06	0.35304	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.004	T	0.31503	-0.9941	9	0.87932	D	0	.	9.2912	0.37789	0.0:0.0:0.7871:0.2128	.	304;304	E9PAV3;F8VU71	.;.	Y	304	ENSP00000403817:S304Y;ENSP00000448035:S304Y	ENSP00000403817:S304Y	S	-	2	0	NACA	55400670	0.068000	0.21057	0.168000	0.22838	0.050000	0.14768	1.158000	0.31737	0.667000	0.31107	-1.344000	0.01245	TCT		0.483	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		46	219	1	0	2.40228e-13	1	2.59309e-13	46	219				
ARMC3	219681	broad.mit.edu	37	10	23287286	23287286	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287286C>A	ENST00000298032.5	+	11	1469	c.1385C>A	c.(1384-1386)gCt>gAt	p.A462D	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|ARMC3_ENST00000409049.3_Missense_Mutation_p.A462D|ARMC3_ENST00000409983.3_Missense_Mutation_p.A462D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	462						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGCTCTCGCTGTCACCGCA	0.502																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1384-1386)gCt>gAt		armadillo repeat containing 3							62.0	58.0	59.0					10																	23287286		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23287286C>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1385C>A	10.37:g.23287286C>A	ENSP00000298032:p.Ala462Asp					ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|ARMC3_ENST00000409049.3_Missense_Mutation_p.A462D|ARMC3_ENST00000409983.3_Missense_Mutation_p.A462D	p.A462D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			11	1469	+			462					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1385C>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278603	0.59758	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;1.11;0.33	5.44	1.42	0.22433	Armadillo-like helical (1);Armadillo-type fold (1);	1.058450	0.07280	N	0.870563	T	0.61689	0.2367	L	0.32530	0.975	0.09310	N	1	P;P	0.44946	0.534;0.846	B;B	0.43809	0.432;0.209	T	0.51942	-0.8641	10	0.87932	D	0	1.1344	5.6993	0.17873	0.1256:0.5985:0.0:0.2759	.	462;462	Q5W041-4;Q5W041	.;ARMC3_HUMAN	D	462;462;398;462;199	ENSP00000298032:A462D;ENSP00000386943:A462D;ENSP00000387288:A462D;ENSP00000365711:A199D	ENSP00000298032:A462D	A	+	2	0	ARMC3	23327292	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	0.349000	0.20055	0.002000	0.14630	0.467000	0.42956	GCT		0.502	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		23	113	1	0	4.26978e-12	1	4.57227e-12	23	113				
IKZF3	22806	broad.mit.edu	37	17	37922578	37922578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37922578G>A	ENST00000346872.3	-	8	1056	c.995C>T	c.(994-996)tCg>tTg	p.S332L	IKZF3_ENST00000346243.3_Missense_Mutation_p.S254L|IKZF3_ENST00000583368.1_Missense_Mutation_p.S85L|IKZF3_ENST00000350532.3_Missense_Mutation_p.S293L|IKZF3_ENST00000351680.3_Missense_Mutation_p.S293L|IKZF3_ENST00000439167.2_Missense_Mutation_p.S259L|IKZF3_ENST00000377958.2_Missense_Mutation_p.S245L|IKZF3_ENST00000439016.2_Missense_Mutation_p.S237L|IKZF3_ENST00000377952.2_Missense_Mutation_p.S111L|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377944.3_Missense_Mutation_p.S189L|IKZF3_ENST00000535189.1_Missense_Mutation_p.S298L|IKZF3_ENST00000394189.2_Missense_Mutation_p.S150L|IKZF3_ENST00000377945.3_Missense_Mutation_p.S198L|IKZF3_ENST00000467757.1_Missense_Mutation_p.S276L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	332					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AACCATCTCCGAGGTGGGAGC	0.567																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(994-996)tCg>tTg		IKAROS family zinc finger 3 (Aiolos)							92.0	83.0	86.0					17																	37922578		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922578G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.995C>T	17.37:g.37922578G>A	ENSP00000344544:p.Ser332Leu					IKZF3_ENST00000439167.2_Missense_Mutation_p.S259L|IKZF3_ENST00000377952.2_Missense_Mutation_p.S111L|IKZF3_ENST00000439016.2_Missense_Mutation_p.S237L|IKZF3_ENST00000583368.1_Missense_Mutation_p.S85L|IKZF3_ENST00000535189.1_Missense_Mutation_p.S298L|IKZF3_ENST00000394189.2_Missense_Mutation_p.S150L|IKZF3_ENST00000467757.1_Missense_Mutation_p.S276L|IKZF3_ENST00000377945.3_Missense_Mutation_p.S198L|IKZF3_ENST00000377958.2_Missense_Mutation_p.S245L|IKZF3_ENST00000377944.3_Missense_Mutation_p.S189L|IKZF3_ENST00000351680.3_Missense_Mutation_p.S293L|IKZF3_ENST00000350532.3_Missense_Mutation_p.S293L|IKZF3_ENST00000346243.3_Missense_Mutation_p.S254L	p.S332L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1056	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		332					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.995C>T	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.152459|5.152459	0.94645|0.94645	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T;T;T;T	.|0.11063	.|3.27;3.24;2.99;2.81;3.44;3.08;3.14;3.22;3.08;4.06	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.119855	.|0.38381	.|N	.|0.001711	T|T	0.30166|0.30166	0.0756|0.0756	M|M	0.78344|0.78344	2.41|2.41	0.46927|0.46927	D|D	0.999257|0.999257	.|P;D;D;D;D;P;P;D;D;D;D;D;B	.|0.60575	.|0.921;0.975;0.975;0.975;0.988;0.756;0.939;0.975;0.966;0.988;0.966;0.966;0.452	.|B;B;B;B;B;B;P;B;B;P;P;P;B	.|0.54238	.|0.239;0.4;0.32;0.4;0.422;0.388;0.503;0.32;0.388;0.746;0.503;0.503;0.154	T|T	0.00540|0.00540	-1.1681|-1.1681	5|10	.|0.46703	.|T	.|0.11	-5.4125|-5.4125	19.9156|19.9156	0.97061|0.97061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|245;111;150;198;189;298;254;237;293;276;293;259;332	.|Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	W|L	247;286|332;237;198;150;189;245;111;298;293;254;293;276	.|ENSP00000367180:S198L;ENSP00000377741:S150L;ENSP00000367179:S189L;ENSP00000367194:S245L;ENSP00000367188:S111L;ENSP00000438972:S298L;ENSP00000345622:S293L;ENSP00000341977:S254L;ENSP00000344471:S293L;ENSP00000420463:S276L	.|ENSP00000341977:S254L	R|S	-|-	1|2	2|0	IKZF3|IKZF3	35176104|35176104	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.991000|0.991000	0.79684|0.79684	8.357000|8.357000	0.90088|0.90088	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.567	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		12	413	0	0	0	1	0	12	413				
LEMD2	221496	broad.mit.edu	37	6	33752178	33752178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33752178G>A	ENST00000293760.5	-	3	823	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LEMD2_ENST00000502643.1_5'Flank|LEMD2_ENST00000508327.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	268					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTCCAGCAAGGCTGCCTTCT	0.552																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(802-804)gcC>gcT		LEM domain containing 2							100.0	91.0	94.0					6																	33752178		2203	4300	6503	SO:0001819	synonymous_variant	221496					integral to nuclear inner membrane		g.chr6:33752178G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.804C>T	6.37:g.33752178G>A						LEMD2_ENST00000508327.1_5'UTR	p.A268A	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			3	823	-			268					B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	ENST00000293760.5	37	c.804C>T	CCDS4785.1																																																																																				0.552	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		82	352	0	0	0	1	0	82	352				
PSMC5	5705	broad.mit.edu	37	17	61902919	61902919	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61902919C>A	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Missense_Mutation_p.W126L|PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ATCATGGACCCAGCTAGCCCC	0.557																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(376-378)tGg>tTg		FtsJ homolog 3 (E. coli)							128.0	105.0	113.0					17																	61902919		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902919C>A	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902919C>A	Exception_encountered						p.W126L	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			6	1022	-			126					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.377G>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243615	0.39697	.	.	ENSG00000108592	ENST00000427159	T	0.41758	0.99	4.76	4.76	0.60689	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77686	-0.2495	10	0.87932	D	0	-11.1035	15.3012	0.73952	0.0:1.0:0.0:0.0	.	126	Q8IY81	RRMJ3_HUMAN	L	126	ENSP00000396673:W126L	ENSP00000396673:W126L	W	-	2	0	FTSJ3	59256651	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.030000	0.76484	2.457000	0.83068	0.455000	0.32223	TGG		0.557	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		59	339	1	0	2.40885e-21	1	2.71177e-21	59	339				
GPR113	165082	broad.mit.edu	37	2	26535831	26535831	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26535831G>T	ENST00000311519.1	-	10	1632	c.1633C>A	c.(1633-1635)Ctt>Att	p.L545I	GPR113_ENST00000333478.6_Missense_Mutation_p.L346I|GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.L476I	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	545					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGTCAAGCTGTATTCTG	0.617																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1036-1038)Ctt>Att		G protein-coupled receptor 113							82.0	76.0	78.0					2																	26535831		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26535831G>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1633C>A	2.37:g.26535831G>T	ENSP00000307831:p.Leu545Ile					GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|GPR113_ENST00000421160.2_Missense_Mutation_p.L476I|GPR113_ENST00000311519.1_Missense_Mutation_p.L545I|GPR113_ENST00000459892.1_5'UTR	p.L346I	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			7	1618	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		545					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.1036C>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433745	0.62955	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.52	5.52	0.82312	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.25044	0.0608	M	0.66939	2.045	0.80722	D	1	B;P;B;B	0.36110	0.236;0.537;0.392;0.094	B;B;B;B	0.44224	0.444;0.316;0.444;0.234	T	0.00589	-1.1656	9	0.56958	D	0.05	-17.2314	15.283	0.73801	0.0:0.0:1.0:0.0	.	476;346;545;148	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	I	148;346;476;545	ENSP00000445729:L148I;ENSP00000327396:L346I;ENSP00000388537:L476I;ENSP00000307831:L545I	ENSP00000307831:L545I	L	-	1	0	GPR113	26389335	0.990000	0.36364	0.118000	0.21660	0.225000	0.24961	4.891000	0.63185	2.761000	0.94854	0.655000	0.94253	CTT		0.617	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		7	116	1	0	2.7689e-08	1	2.89045e-08	7	116				
CEP120	153241	broad.mit.edu	37	5	122751810	122751810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122751810C>T	ENST00000306467.5	-	3	519	c.215G>A	c.(214-216)cGt>cAt	p.R72H	CEP120_ENST00000328236.5_Missense_Mutation_p.R72H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000306481.6_Missense_Mutation_p.R46H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	72					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GATAGGAGTACGCTGTAGCCT	0.338																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(214-216)cGt>cAt		centrosomal protein 120kDa							81.0	72.0	75.0					5																	122751810		1839	4088	5927	SO:0001583	missense	153241					centrosome		g.chr5:122751810C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.215G>A	5.37:g.122751810C>T	ENSP00000303058:p.Arg72His					CEP120_ENST00000306481.6_Missense_Mutation_p.R46H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000328236.5_Missense_Mutation_p.R72H	p.R72H			Q8N960	CE120_HUMAN			3	519	-			72					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.215G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603365	0.87157	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.56776	1.76;1.76;1.76;0.44	5.43	5.43	0.79202	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72265	-0.4344	10	0.38643	T	0.18	-13.5642	18.3703	0.90405	0.0:1.0:0.0:0.0	.	72	Q8N960	CE120_HUMAN	H	72;72;46;46;72	ENSP00000303058:R72H;ENSP00000327504:R72H;ENSP00000307419:R46H;ENSP00000421620:R46H	ENSP00000303058:R72H	R	-	2	0	CEP120	122779709	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.807000	0.75201	2.700000	0.92200	0.655000	0.94253	CGT		0.338	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		23	126	0	0	0	1	0	23	126				
KIF2B	84643	broad.mit.edu	37	17	51900974	51900974	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900974T>G	ENST00000268919.4	+	1	736	c.580T>G	c.(580-582)Tat>Gat	p.Y194D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	194					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATCGAAGAGTATCGCAGGCA	0.577																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(580-582)Tat>Gat		kinesin family member 2B							76.0	65.0	68.0					17																	51900974		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900974T>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.580T>G	17.37:g.51900974T>G	ENSP00000268919:p.Tyr194Asp						p.Y194D	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	736	+			194					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.580T>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849780	0.51270	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17370	2.28	5.52	5.52	0.82312	.	0.449029	0.18966	N	0.126267	T	0.22244	0.0536	M	0.62723	1.935	0.44771	D	0.997772	P	0.43857	0.819	B	0.39562	0.303	T	0.02805	-1.1108	10	0.87932	D	0	.	15.1057	0.72319	0.0:0.0:0.0:1.0	.	194	Q8N4N8	KIF2B_HUMAN	D	194;117	ENSP00000268919:Y194D	ENSP00000268919:Y194D	Y	+	1	0	KIF2B	49255973	1.000000	0.71417	0.413000	0.26509	0.753000	0.42808	5.369000	0.66138	2.211000	0.71520	0.533000	0.62120	TAT		0.577	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		75	341	0	0	0	1	0	75	341				
G3BP1	10146	broad.mit.edu	37	5	151175110	151175110	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151175110A>C	ENST00000394123.3	+	6	658	c.513A>C	c.(511-513)ggA>ggC	p.G171G	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Silent_p.G171G			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	171	Glu-rich.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ATGATTCTGGAACTTTCTATG	0.408																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(511-513)ggA>ggC		GTPase activating protein (SH3 domain) binding protein 1							144.0	152.0	149.0					5																	151175110		2203	4300	6503	SO:0001819	synonymous_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151175110A>C	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.513A>C	5.37:g.151175110A>C						G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Silent_p.G171G	p.G171G			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		6	658	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	171			Glu-rich.		Q5HYE9	Silent	SNP	ENST00000394123.3	37	c.513A>C	CCDS4319.1																																																																																				0.408	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		92	410	0	0	0	1	0	92	410				
RB1CC1	9821	broad.mit.edu	37	8	53574165	53574165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53574165G>T	ENST00000025008.5	-	9	1811	c.1288C>A	c.(1288-1290)Ctg>Atg	p.L430M	RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	430					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATATCTAACAGTTTTCTATGA	0.343																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1288-1290)Ctg>Atg		RB1-inducible coiled-coil 1							169.0	166.0	167.0					8																	53574165		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53574165G>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1288C>A	8.37:g.53574165G>T	ENSP00000025008:p.Leu430Met					RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M	p.L430M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			9	1811	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	430					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1288C>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092588	0.76756	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.27104	1.7;1.69;1.69	5.26	4.39	0.52855	.	0.000000	0.64402	D	0.000005	T	0.48822	0.1521	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.52290	-0.8595	10	0.72032	D	0.01	-8.4025	14.0097	0.64488	0.0732:0.0:0.9268:0.0	.	430;430	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	430	ENSP00000025008:L430M;ENSP00000396067:L430M;ENSP00000445960:L430M	ENSP00000025008:L430M	L	-	1	2	RB1CC1	53736718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	1.351000	0.45789	0.650000	0.86243	CTG		0.343	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		96	400	1	0	1.43847e-43	1	1.75646e-43	96	400				
KLHL6	89857	broad.mit.edu	37	3	183209999	183209999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183209999G>A	ENST00000341319.3	-	7	1617	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	528					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TAGGCGTACAGCGCTCTCATG	0.582																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1582-1584)Ctg>Ttg		kelch-like family member 6							19.0	19.0	19.0					3																	183209999		2201	4299	6500	SO:0001819	synonymous_variant	89857							g.chr3:183209999G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1582C>T	3.37:g.183209999G>A							p.L528L	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1617	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		528					B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1582C>T	CCDS3245.2																																																																																				0.582	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		36	154	0	0	0	1	0	36	154				
SLC7A11	23657	broad.mit.edu	37	4	139163042	139163042	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:139163042C>A	ENST00000280612.5	-	1	461	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	61					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GATGAAGATTCCTGCTCCAAT	0.542																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(181-183)gGa>gTa		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						139.0	116.0	124.0					4																	139163042		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139163042C>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.182G>T	4.37:g.139163042C>A	ENSP00000280612:p.Gly61Val						p.G61V	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			1	461	-	all_hematologic(180;0.166)		61					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.182G>T	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240873	0.95272	.	.	ENSG00000151012	ENST00000280612	D	0.92911	-3.13	6.03	6.03	0.97812	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98196	1.0465	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	61	Q9UPY5	XCT_HUMAN	V	61	ENSP00000280612:G61V	ENSP00000280612:G61V	G	-	2	0	SLC7A11	139382492	1.000000	0.71417	0.804000	0.32291	0.976000	0.68499	7.731000	0.84895	2.861000	0.98227	0.655000	0.94253	GGA		0.542	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			75	334	1	0	2.51111e-31	1	2.95558e-31	75	334				
COL5A1	1289	broad.mit.edu	37	9	137630615	137630615	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630615C>T	ENST00000371817.3	+	11	1869	c.1455C>T	c.(1453-1455)acC>acT	p.T485T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	485	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCAGGAACCATGGGTCCCA	0.557																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1453-1455)acC>acT		collagen, type V, alpha 1							71.0	81.0	78.0					9																	137630615		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137630615C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1455C>T	9.37:g.137630615C>T							p.T485T	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	11	1869	+		Myeloproliferative disorder(178;0.0341)	485			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1455C>T	CCDS6982.1																																																																																				0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		34	489	0	0	0	1	0	34	489				
FCN2	2220	broad.mit.edu	37	9	137772718	137772718	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137772718C>A	ENST00000291744.6	+	1	61	c.51C>A	c.(49-51)ctC>ctA	p.L17L	FCN2_ENST00000350339.2_Silent_p.L17L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	17					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCTGCTGCTCTCTTTCCTGG	0.607																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(49-51)ctC>ctA		ficolin (collagen/fibrinogen domain containing lectin) 2							40.0	46.0	44.0					9																	137772718		2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137772718C>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.51C>A	9.37:g.137772718C>A						FCN2_ENST00000291744.6_Silent_p.L17L	p.L17L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	1	65	+		Myeloproliferative disorder(178;0.0333)	17					A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.51C>A	CCDS6983.1																																																																																				0.607	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		8	130	1	0	0.0381472	1	0.0382505	8	130				
ZXDC	79364	broad.mit.edu	37	3	126185060	126185060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126185060C>T	ENST00000389709.3	-	5	1432	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	460					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGTGAAGAGTCTGTTGCAGGT	0.577																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1378-1380)aGa>aAa		ZXD family zinc finger C							85.0	94.0	91.0					3																	126185060		2157	4274	6431	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126185060C>T	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1379G>A	3.37:g.126185060C>T	ENSP00000374359:p.Arg460Lys					ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	p.R460K	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	5	1432	-			460					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1379G>A	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607080	0.28623	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.35789	1.29;1.29	5.23	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056668	0.64402	D	0.000003	T	0.15392	0.0371	N	0.13043	0.29	0.28752	N	0.90137	B;B	0.20368	0.035;0.044	B;B	0.20577	0.017;0.03	T	0.33292	-0.9874	10	0.02654	T	1	-20.3099	5.432	0.16458	0.0:0.7589:0.0:0.2411	.	460;460	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	K	460	ENSP00000374359:R460K;ENSP00000337694:R460K	ENSP00000337694:R460K	R	-	2	0	ZXDC	127667750	1.000000	0.71417	0.716000	0.30569	0.648000	0.38561	5.981000	0.70524	2.593000	0.87608	0.591000	0.81541	AGA		0.577	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		16	327	0	0	0	1	0	16	327				
VPS13B	157680	broad.mit.edu	37	8	100147882	100147882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100147882C>T	ENST00000358544.2	+	11	1595	c.1484C>T	c.(1483-1485)aCa>aTa	p.T495I	VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I|VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I|VPS13B_ENST00000395996.1_Missense_Mutation_p.T495I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	495					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACATACCTTACAAATTCATTG	0.328																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(1483-1485)aCa>aTa		vacuolar protein sorting 13 homolog B (yeast)							137.0	121.0	126.0					8																	100147882		2202	4300	6502	SO:0001583	missense	157680				protein transport			g.chr8:100147882C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1484C>T	8.37:g.100147882C>T	ENSP00000351346:p.Thr495Ile					VPS13B_ENST00000358544.2_Missense_Mutation_p.T495I|VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I|VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I	p.T495I			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		11	1595	+	Breast(36;3.73e-07)		495					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1484C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231371	0.79688	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.78364	-1.17;-0.46;-0.46;-0.17	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.83229	0.5209	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.996;0.998;0.974	D	0.84951	0.0871	10	0.72032	D	0.01	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	495;495;495;495	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	I	495	ENSP00000347281:T495I;ENSP00000349685:T495I;ENSP00000351346:T495I;ENSP00000379318:T495I	ENSP00000347281:T495I	T	+	2	0	VPS13B	100217058	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.204000	0.77872	2.663000	0.90544	0.655000	0.94253	ACA		0.328	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		36	161	0	0	0	1	0	36	161				
DHX9	1660	broad.mit.edu	37	1	182847247	182847247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182847247C>T	ENST00000367549.3	+	20	2400	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	764	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGGAAAGGGCGAGCTGGCCG	0.473																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(2290-2292)Cga>Tga		DEAH (Asp-Glu-Ala-His) box helicase 9							94.0	89.0	91.0					1																	182847247		1940	4144	6084	SO:0001587	stop_gained	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182847247C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2290C>T	1.37:g.182847247C>T	ENSP00000356520:p.Arg764*					DHX9_ENST00000485081.1_3'UTR	p.R764*	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			20	2400	+			764			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	37	c.2290C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420901	0.98803	.	.	ENSG00000135829	ENST00000367549	.	.	.	5.78	3.87	0.44632	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.062	0.47953	0.4634:0.4233:0.1132:0.0	.	.	.	.	X	764	.	ENSP00000356520:R764X	R	+	1	2	DHX9	181113870	0.868000	0.29978	0.794000	0.32065	0.971000	0.66376	1.706000	0.37878	0.743000	0.32719	-0.169000	0.13324	CGA		0.473	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		60	283	0	0	0	1	0	60	283				
ZNF14	7561	broad.mit.edu	37	19	19823186	19823186	+	Missense_Mutation	SNP	T	T	C	rs188838618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19823186T>C	ENST00000344099.3	-	4	1042	c.904A>G	c.(904-906)Agt>Ggt	p.S302G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCTCTCCACTATGAGTCCTT	0.388													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20745	0.0		0.0	False		,,,				2504	0.0					ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(904-906)Agt>Ggt		zinc finger protein 14							42.0	42.0	42.0					19																	19823186		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823186T>C	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.904A>G	19.37:g.19823186T>C	ENSP00000340514:p.Ser302Gly						p.S302G	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1042	-		Renal(1328;0.0474)	302					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.904A>G	CCDS12409.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	17.64	3.438753	0.62955	.	.	ENSG00000105708	ENST00000344099	T	0.19669	2.13	1.8	1.8	0.24995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21761	0.0524	L	0.60067	1.865	0.22240	N	0.999268	P	0.36086	0.536	B	0.40256	0.324	T	0.25222	-1.0138	9	0.87932	D	0	.	3.952	0.09374	0.3229:0.0:0.0:0.6771	.	302	P17017	ZNF14_HUMAN	G	302	ENSP00000340514:S302G	ENSP00000340514:S302G	S	-	1	0	ZNF14	19684186	1.000000	0.71417	0.031000	0.17742	0.777000	0.43975	2.010000	0.40913	0.811000	0.34303	0.383000	0.25322	AGT		0.388	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		9	206	0	0	0	1	0	9	206				
ZNF501	115560	broad.mit.edu	37	3	44776675	44776675	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44776675C>A	ENST00000396048.2	+	3	1199	c.762C>A	c.(760-762)tcC>tcA	p.S254S	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGGGAAATCCTTTAGGCACA	0.403																																						ENST00000396048.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(760-762)tcC>tcA		zinc finger protein 501							70.0	72.0	71.0					3																	44776675		2031	4228	6259	SO:0001819	synonymous_variant	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776675C>A	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.762C>A	3.37:g.44776675C>A							p.S254S	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	1199	+			254					B4DLY7|Q96NU9	Silent	SNP	ENST00000396048.2	37	c.762C>A	CCDS2720.2																																																																																				0.403	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		58	250	1	0	9.59449e-18	1	1.06118e-17	58	250				
APEH	327	broad.mit.edu	37	3	49714060	49714060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49714060G>A	ENST00000296456.5	+	8	1163	c.763G>A	c.(763-765)Gat>Aat	p.D255N	APEH_ENST00000438011.1_Missense_Mutation_p.D255N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	255					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCCCTGGAGATGCTGGTGT	0.607																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(763-765)Gat>Aat		acylaminoacyl-peptide hydrolase							132.0	118.0	123.0					3																	49714060		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49714060G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.763G>A	3.37:g.49714060G>A	ENSP00000296456:p.Asp255Asn					APEH_ENST00000438011.1_Missense_Mutation_p.D255N	p.D255N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1163	+			255					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.763G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716078	0.89205	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T;T;T	0.42513	1.0;1.0;0.97;1.0;1.0	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.041945	0.85682	D	0.000000	T	0.57403	0.2051	L	0.58969	1.84	0.80722	D	1	D;P	0.59357	0.985;0.896	P;B	0.56088	0.791;0.334	T	0.56523	-0.7965	10	0.51188	T	0.08	-18.567	19.4536	0.94878	0.0:0.0:1.0:0.0	.	255;255	C9JIF9;P13798	.;ACPH_HUMAN	N	255;154;180;255;206	ENSP00000296456:D255N;ENSP00000414369:D154N;ENSP00000402365:D180N;ENSP00000415862:D255N;ENSP00000410366:D206N	ENSP00000296456:D255N	D	+	1	0	APEH	49689064	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.420000	0.97426	2.618000	0.88619	0.585000	0.79938	GAT		0.607	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			54	192	0	0	0	1	0	54	192				
WDR24	84219	broad.mit.edu	37	16	734755	734755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:734755G>A	ENST00000248142.6	-	13	2741	c.2742C>T	c.(2740-2742)ggC>ggT	p.G914G	JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Silent_p.G784G|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	914										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGCAGAGGTGGCCGCAGCCTG	0.697																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(2350-2352)ggC>ggT		WD repeat domain 24							15.0	15.0	15.0					16																	734755		2166	4264	6430	SO:0001819	synonymous_variant	84219							g.chr16:734755G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2742C>T	16.37:g.734755G>A						WDR24_ENST00000248142.6_Silent_p.G914G	p.G784G	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			9	3111	-		Hepatocellular(780;0.0218)	914					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	37	c.2352C>T																																																																																					0.697	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		9	46	0	0	0	1	0	9	46				
NUDT12	83594	broad.mit.edu	37	5	102887938	102887938	+	Missense_Mutation	SNP	G	G	A	rs373323160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102887938G>A	ENST00000230792.2	-	6	1354	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_Missense_Mutation_p.R402C	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	420	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTGAACCAGCGGGCATCCTCT	0.398																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1258-1260)Cgc>Tgc		nudix (nucleoside diphosphate linked moiety X)-type motif 12		G	CYS/ARG	0,4404		0,0,2202	154.0	149.0	151.0		1258	5.8	1.0	5		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUDT12	NM_031438.2	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	420/463	102887938	1,13003	2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102887938G>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1258C>T	5.37:g.102887938G>A	ENSP00000230792:p.Arg420Cys					NUDT12_ENST00000507423.1_Missense_Mutation_p.R402C	p.R420C	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	6	1354	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	420			Nudix hydrolase.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.1258C>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492679	0.64074	0.0	1.16E-4	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.09723	2.95;2.95	5.76	5.76	0.90799	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.045576	0.85682	D	0.000000	T	0.26846	0.0657	M	0.85630	2.765	0.80722	D	1	P;D	0.54964	0.908;0.969	B;P	0.50162	0.244;0.633	T	0.02411	-1.1163	10	0.62326	D	0.03	-7.224	14.1623	0.65454	0.0714:0.0:0.9286:0.0	.	402;420	E7EM93;Q9BQG2	.;NUD12_HUMAN	C	420;402	ENSP00000230792:R420C;ENSP00000424521:R402C	ENSP00000230792:R420C	R	-	1	0	NUDT12	102915837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.453000	0.73488	2.724000	0.93272	0.650000	0.86243	CGC		0.398	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		74	374	0	0	0	1	0	74	374				
ADAM23	8745	broad.mit.edu	37	2	207424741	207424741	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207424741G>A	ENST00000264377.3	+	11	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_ENST00000374415.3_Silent_p.K356K|ADAM23_ENST00000374416.1_Silent_p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGACTGAGAAGGATCAGATTG	0.507																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1066-1068)aaG>aaA		ADAM metallopeptidase domain 23							127.0	107.0	114.0					2																	207424741		2203	4300	6503	SO:0001819	synonymous_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207424741G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1068G>A	2.37:g.207424741G>A						ADAM23_ENST00000374415.3_Silent_p.K356K|ADAM23_ENST00000374416.1_Silent_p.K356K	p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	11	1396	+			356			Peptidase M12B.		A2RU59	Silent	SNP	ENST00000264377.3	37	c.1068G>A	CCDS2369.1																																																																																				0.507	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		45	202	0	0	0	1	0	45	202				
PCDHGA10	56106	broad.mit.edu	37	5	140792997	140792997	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140792997C>T	ENST00000398610.2	+	1	255	c.255C>T	c.(253-255)agC>agT	p.S85S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCGCAGCGGCAGCTTGA	0.627																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(253-255)agC>agT									59.0	75.0	69.0					5																	140792997		2119	4261	6380	SO:0001819	synonymous_variant	0							g.chr5:140792997C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.255C>T	5.37:g.140792997C>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S85S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	255	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.255C>T	CCDS47292.1																																																																																				0.627	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		24	883	0	0	0	1	0	24	883				
TRIM56	81844	broad.mit.edu	37	7	100730929	100730929	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730929C>T	ENST00000306085.6	+	3	633	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	112					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCAGCACCGGGGGGCCGG	0.726																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(334-336)acC>acT		tripartite motif containing 56							17.0	21.0	20.0					7																	100730929		2017	4139	6156	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730929C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.336C>T	7.37:g.100730929C>T							p.T112T	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	633	+	Lung NSC(181;0.136)|all_lung(186;0.182)		112					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.336C>T	CCDS43625.1																																																																																				0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		74	252	0	0	0	1	0	74	252				
CD97	976	broad.mit.edu	37	19	14517876	14517876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517876G>A	ENST00000242786.5	+	18	2291	c.2211G>A	c.(2209-2211)gcG>gcA	p.A737A	CD97_ENST00000358600.3_Silent_p.A644A|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Silent_p.A688A|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	737					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCGCAGGGCGCTGACCATCA	0.647																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2209-2211)gcG>gcA		CD97 molecule							94.0	69.0	77.0					19																	14517876		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517876G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2211G>A	19.37:g.14517876G>A						CD97_ENST00000357355.3_Silent_p.A688A|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.A644A	p.A737A	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			18	2291	+			737					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.2211G>A	CCDS32929.1																																																																																				0.647	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		34	408	0	0	0	1	0	34	408				
KDM5A	5927	broad.mit.edu	37	12	432350	432350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:432350G>A	ENST00000399788.2	-	16	2535	c.2173C>T	c.(2173-2175)Ctc>Ttc	p.L725F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	725					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGAGAAGGGAGGTCTTCTAAT	0.328			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(2173-2175)Ctc>Ttc		lysine (K)-specific demethylase 5A							90.0	79.0	82.0					12																	432350		1849	4088	5937	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:432350G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2173C>T	12.37:g.432350G>A	ENSP00000382688:p.Leu725Phe					KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	p.L725F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			16	2535	-			725					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.2173C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321988	0.60634	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.95724	-3.79;-3.79;-3.79	5.39	5.39	0.77823	Zinc finger, C5HC2-type (1);	0.055609	0.64402	D	0.000001	D	0.96169	0.8751	M	0.83483	2.645	0.50467	D	0.999873	B;B;B	0.28178	0.202;0.118;0.017	B;B;B	0.39771	0.307;0.309;0.046	D	0.95095	0.8225	10	0.56958	D	0.05	-10.091	13.7971	0.63177	0.0737:0.0:0.9263:0.0	.	725;725;725	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	F	344;684;725;725;344	ENSP00000382688:L725F;ENSP00000372265:L725F;ENSP00000440622:L344F	ENSP00000261253:L344F	L	-	1	0	KDM5A	302611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.011000	0.70760	2.676000	0.91093	0.563000	0.77884	CTC		0.328	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		35	171	0	0	0	1	0	35	171				
FCN1	2219	broad.mit.edu	37	9	137804960	137804960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137804960G>A	ENST00000371806.3	-	6	461	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	A domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(370-372)Cgg>Tgg		ficolin (collagen/fibrinogen domain containing) 1							44.0	42.0	43.0					9																	137804960		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137804960G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.370C>T	9.37:g.137804960G>A	ENSP00000360871:p.Arg124Trp						p.R124W	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	6	461	-		Myeloproliferative disorder(178;0.0333)	124			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.370C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567818	0.45798	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	T	0.78126	-1.15	3.39	-0.646	0.11472	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	D	0.85635	0.5742	M	0.90309	3.105	0.09310	N	1	D	0.76494	0.999	P	0.54965	0.765	T	0.77907	-0.2412	9	0.87932	D	0	.	11.0246	0.47739	0.0:0.0:0.5173:0.4827	.	124	O00602	FCN1_HUMAN	W	124;124;112	ENSP00000360871:R124W	ENSP00000308877:R112W	R	-	1	2	FCN1	136944781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.134000	0.15932	-0.115000	0.11915	-0.287000	0.09952	CGG		0.682	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		26	124	0	0	0	1	0	26	124				
MKL2	57496	broad.mit.edu	37	16	14334513	14334513	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14334513C>T	ENST00000341243.5	+	8	1046				MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000573051.1_Missense_Mutation_p.A323V|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2						blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGAGAGTGGCCTGCATTCCA	0.348																																						ENST00000573051.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(967-969)gCc>gTc		MKL/myocardin-like 2							164.0	152.0	155.0					16																	14334513		876	1991	2867	SO:0001627	intron_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14334513C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1046+172C>T	16.37:g.14334513C>T						MKL2_ENST00000318282.5_Intron|MKL2_ENST00000571589.1_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000572567.1_3'UTR	p.A323V			Q9ULH7	MKL2_HUMAN			9	1126	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.968C>T		.	.	.	.	.	.	.	.	.	.	C	15.51	2.856035	0.51376	.	.	ENSG00000186260	ENST00000389126	.	.	.	4.04	-1.67	0.08238	.	.	.	.	.	T	0.27063	0.0663	.	.	.	0.25064	N	0.991046	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	7	0.87932	D	0	.	4.212	0.10515	0.0:0.3797:0.3208:0.2994	.	323	Q9ULH7-2	.	V	405	.	ENSP00000373778:A405V	A	+	2	0	MKL2	14242014	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	-0.916000	0.04029	-0.242000	0.09667	0.467000	0.42956	GCC		0.348	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		80	385	0	0	0	1	0	80	385				
SLC23A2	9962	broad.mit.edu	37	20	4855240	4855240	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4855240C>T	ENST00000379333.1	-	10	1319	c.927G>A	c.(925-927)caG>caA	p.Q309Q	SLC23A2_ENST00000338244.1_Silent_p.Q309Q|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.Q195Q	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	309					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTTTGAACAGCTGTAACTTGT	0.383																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(925-927)caG>caA		solute carrier family 23 (ascorbic acid transporter), member 2							194.0	186.0	188.0					20																	4855240		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4855240C>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.927G>A	20.37:g.4855240C>T						SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.Q195Q|SLC23A2_ENST00000338244.1_Silent_p.Q309Q	p.Q309Q	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			10	1319	-			309					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.927G>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180732	0.01633	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.44	-1.36	0.09085	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-9.0181	5.6703	0.17719	0.0:0.475:0.2403:0.2847	.	.	.	.	T	66	.	.	A	-	1	0	SLC23A2	4803240	1.000000	0.71417	0.976000	0.42696	0.005000	0.04900	2.191000	0.42640	-0.233000	0.09797	-0.176000	0.13171	GCT		0.383	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			118	569	0	0	0	1	0	118	569				
TG	7038	broad.mit.edu	37	8	134025901	134025901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134025901G>A	ENST00000220616.4	+	37	6494	c.6454G>A	c.(6454-6456)Gtg>Atg	p.V2152M	TG_ENST00000377869.1_Missense_Mutation_p.V2095M|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.V285M|TG_ENST00000542445.1_Missense_Mutation_p.V522M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2152					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V2152L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCTGGGGCTGTGAGATGTAT	0.517																																						ENST00000220616.4																			1	Substitution - Missense(1)	p.V2152L(1)	lung(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6454-6456)Gtg>Atg		thyroglobulin							131.0	113.0	119.0					8																	134025901		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134025901G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6454G>A	8.37:g.134025901G>A	ENSP00000220616:p.Val2152Met					TG_ENST00000519543.1_Missense_Mutation_p.V285M|TG_ENST00000542445.1_Missense_Mutation_p.V522M|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.V2095M	p.V2152M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	37	6494	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2152					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6454G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.314|8.314	0.822879|0.822879	0.16678|0.16678	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.70164	.|-0.25;-0.27;-0.46;-0.44	5.18|5.18	2.39|2.39	0.29439|0.29439	.|.	.|0.507061	.|0.18166	.|N	.|0.149606	T|T	0.56717|0.56717	0.2004|0.2004	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22414	.|0.042;0.069;0.042	.|B;B;B	.|0.24701	.|0.028;0.055;0.046	T|T	0.52609|0.52609	-0.8553|-0.8553	5|10	.|0.62326	.|D	.|0.03	.|.	5.6691|5.6691	0.17713|0.17713	0.1781:0.1606:0.6613:0.0|0.1781:0.1606:0.6613:0.0	.|.	.|285;522;2152	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|M	607|2095;958;2152;522;285	.|ENSP00000367100:V2095M;ENSP00000220616:V2152M;ENSP00000441693:V522M;ENSP00000430430:V285M	.|ENSP00000220616:V2152M	C|V	+|+	2|1	0|0	TG|TG	134095083|134095083	0.561000|0.561000	0.26578|0.26578	0.229000|0.229000	0.23960|0.23960	0.381000|0.381000	0.30169|0.30169	1.029000|1.029000	0.30140|0.30140	0.279000|0.279000	0.22186|0.22186	-0.254000|-0.254000	0.11334|0.11334	TGT|GTG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		74	287	0	0	0	1	0	74	287				
FKBP15	23307	broad.mit.edu	37	9	115965247	115965247	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115965247C>T	ENST00000238256.3	-	5	510	c.393G>A	c.(391-393)gaG>gaA	p.E131E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	131	Important for function in growth cone organization. {ECO:0000250}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTACCATTAGCTCAAAGTTCA	0.378																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(391-393)gaG>gaA		FK506 binding protein 15, 133kDa							80.0	73.0	75.0					9																	115965247		1868	4120	5988	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115965247C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.393G>A	9.37:g.115965247C>T							p.E131E	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			5	510	-			131			Important for function in growth cone organization (By similarity).		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.393G>A	CCDS48007.1																																																																																				0.378	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		16	84	0	0	0	1	0	16	84				
NYAP1	222950	broad.mit.edu	37	7	100091449	100091449	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100091449C>A	ENST00000300179.2	+	7	2608	c.2449C>A	c.(2449-2451)Cgg>Agg	p.R817R	NYAP1_ENST00000454988.1_Silent_p.R761R|NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000423930.1_Silent_p.R818R	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	817					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CAGCTGGCGGCGGGGACCCGA	0.746																																						ENST00000423930.1																			0											c.(2452-2454)Cgg>Agg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							6.0	7.0	6.0					7																	100091449		2043	4075	6118	SO:0001819	synonymous_variant	222950							g.chr7:100091449C>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.2449C>A	7.37:g.100091449C>A						NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000300179.2_Silent_p.R817R|NYAP1_ENST00000454988.1_Silent_p.R761R	p.R818R			Q6ZVC0	CG051_HUMAN			7	2611	+			817					Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	c.2452C>A	CCDS5696.1																																																																																				0.746	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		10	69	1	0	1.58986e-06	1	1.64048e-06	10	69				
NCAM2	4685	broad.mit.edu	37	21	22664525	22664525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22664525G>T	ENST00000400546.1	+	5	832	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*|NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	195	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGCCAGGGGAGAAATTGACTT	0.338																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(583-585)Gaa>Taa		neural cell adhesion molecule 2							166.0	164.0	165.0					21																	22664525		1843	4092	5935	SO:0001587	stop_gained	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22664525G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.583G>T	21.37:g.22664525G>T	ENSP00000383392:p.Glu195*					NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*	p.E195*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	5	832	+		Lung NSC(9;0.195)	195			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Nonsense_Mutation	SNP	ENST00000400546.1	37	c.583G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876320	0.97904	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.6042	18.2691	0.90062	0.0:0.0:1.0:0.0	.	.	.	.	X	195;53;220	.	ENSP00000284894:E53X	E	+	1	0	NCAM2	21586396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.733000	0.93635	0.655000	0.94253	GAA		0.338	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		39	264	1	0	2.05212e-20	1	2.2997e-20	39	264				
ASPM	259266	broad.mit.edu	37	1	197111833	197111833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197111833C>T	ENST00000367409.4	-	3	1805	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	517					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCTTTTTGCTTTTGGTTTA	0.343																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1549-1551)Gca>Aca		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							172.0	176.0	174.0					1																	197111833		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111833C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1549G>A	1.37:g.197111833C>T	ENSP00000356379:p.Ala517Thr					ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	p.A517T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1805	-			517					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1549G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004738	0.54254	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59906	0.23;1.49	5.44	3.31	0.37934	.	0.252448	0.34460	N	0.003950	T	0.50429	0.1615	M	0.66939	2.045	0.26256	N	0.97866	B;B	0.18461	0.012;0.028	B;B	0.20577	0.011;0.03	T	0.41197	-0.9522	10	0.33141	T	0.24	.	6.7476	0.23470	0.3664:0.5422:0.0:0.0914	.	517;517	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	T	517	ENSP00000356379:A517T;ENSP00000294732:A517T	ENSP00000294732:A517T	A	-	1	0	ASPM	195378456	1.000000	0.71417	0.905000	0.35620	0.985000	0.73830	4.067000	0.57527	1.437000	0.47472	-0.148000	0.13756	GCA		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		161	844	0	0	0	1	0	161	844				
GNB1L	54584	broad.mit.edu	37	22	19770458	19770458	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19770458G>A	ENST00000329517.6	-	0	6706				TBX1_ENST00000359500.3_Silent_p.G344G	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					aaggctctgggctccaacctg	0.532																																						ENST00000359500.3																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(1030-1032)ggG>ggA		T-box 1							133.0	124.0	127.0					22																	19770458		2203	4300	6503	SO:0001628	intergenic_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19770458G>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279		22.37:g.19770458G>A							p.G344G	NM_005992.1	NP_005983.1	O43435	TBX1_HUMAN			9	1161	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	0					Q9H2S2|Q9H4M4	Silent	SNP	ENST00000329517.6	37	c.1032G>A	CCDS13768.1																																																																																				0.532	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			122	583	0	0	0	1	0	122	583				
OLIG3	167826	broad.mit.edu	37	6	137815239	137815239	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815239C>A	ENST00000367734.2	-	1	292	c.69G>T	c.(67-69)agG>agT	p.R23S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	23					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ggtggtggtCCCTCAGGTACA	0.577																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(67-69)agG>agT		oligodendrocyte transcription factor 3							51.0	55.0	54.0					6																	137815239		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815239C>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.69G>T	6.37:g.137815239C>A	ENSP00000356708:p.Arg23Ser						p.R23S	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	292	-	Breast(32;0.165)|Colorectal(23;0.24)		23					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.69G>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824495	0.32237	.	.	ENSG00000177468	ENST00000367734	D	0.99394	-5.82	5.55	2.91	0.33838	.	0.150750	0.43747	D	0.000533	D	0.90669	0.7073	N	0.04508	-0.205	0.40100	D	0.976369	B	0.22800	0.075	B	0.17098	0.017	D	0.87028	0.2133	10	0.05525	T	0.97	-8.7311	11.6786	0.51444	0.0:0.7315:0.0:0.2685	.	23	Q7RTU3	OLIG3_HUMAN	S	23	ENSP00000356708:R23S	ENSP00000356708:R23S	R	-	3	2	OLIG3	137856932	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.372000	0.20467	0.975000	0.38392	0.591000	0.81541	AGG		0.577	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		97	398	1	0	4.35598e-54	1	5.43542e-54	97	398				
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158988314C>T	ENST00000295809.7	+	5	1100	c.845C>T	c.(844-846)gCt>gTt	p.A282V	IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000430894.2_Missense_Mutation_p.A230V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V|IFI16_ENST00000368132.3_Missense_Mutation_p.A282V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(844-846)gCt>gTt		interferon, gamma-inducible protein 16							65.0	66.0	66.0					1																	158988314		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988314C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.845C>T	1.37:g.158988314C>T	ENSP00000295809:p.Ala282Val					IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000368132.3_Missense_Mutation_p.A282V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000430894.2_Missense_Mutation_p.A230V	p.A282V			Q16666	IF16_HUMAN			5	1100	+	all_hematologic(112;0.0429)		282			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.845C>T		.	.	.	.	.	.	.	.	.	.	C	8.937	0.964958	0.18583	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	2.9	-0.208	0.13185	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.25094	0.71	0.09310	N	1	P;P;P	0.46859	0.726;0.477;0.885	B;B;B	0.32980	0.156;0.038;0.156	T	0.32214	-0.9915	8	.	.	.	.	5.1772	0.15141	0.0:0.5616:0.0:0.4384	.	230;282;282	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	V	282;282;282;282;230	ENSP00000295809:A282V;ENSP00000342741:A282V;ENSP00000357113:A282V;ENSP00000357114:A282V;ENSP00000394935:A230V	.	A	+	2	0	IFI16	157254938	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.061000	0.03472	0.086000	0.17137	0.555000	0.69702	GCT		0.338	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		80	222	0	0	0	1	0	80	222				
KBTBD3	143879	broad.mit.edu	37	11	105924236	105924236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105924236T>C	ENST00000526793.1	-	3	1339	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A|KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	390										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTATGCATGGTTCTTGGTGTT	0.388																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(1180-1182)Acc>Gcc		kelch repeat and BTB (POZ) domain containing 3							88.0	84.0	86.0					11																	105924236		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924236T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1180A>G	11.37:g.105924236T>C	ENSP00000436262:p.Thr394Ala					KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A|KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A	p.T394A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1339	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	390					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1180A>G	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592241	0.66219	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.76709	-1.04;-1.04;-1.04	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	L	0.31294	0.92	0.58432	D	0.999997	D;P	0.69078	0.997;0.905	D;P	0.69142	0.962;0.642	T	0.81252	-0.1017	10	0.39692	T	0.17	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	394;390	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	A	315;394;394	ENSP00000431910:T315A;ENSP00000436262:T394A;ENSP00000432163:T394A	ENSP00000436262:T394A	T	-	1	0	KBTBD3	105429446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.287000	0.76781	0.482000	0.46254	ACC		0.388	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		33	145	0	0	0	1	0	33	145				
CPZ	8532	broad.mit.edu	37	4	8620238	8620238	+	Missense_Mutation	SNP	G	G	A	rs143243881	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8620238G>A	ENST00000360986.4	+	10	1760	c.1586G>A	c.(1585-1587)cGc>cAc	p.R529H	CPZ_ENST00000382480.2_Missense_Mutation_p.R392H|CPZ_ENST00000429646.2_Missense_Mutation_p.R137H|CPZ_ENST00000315782.6_Missense_Mutation_p.R518H	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	529					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGGCATTCGCCACGACATC	0.597													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19171	0.0		0.0	False		,,,				2504	0.0					ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(409-411)cGc>cAc		carboxypeptidase Z		G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	104.0	90.0	94.0		1586,1175,1553	4.3	1.0	4	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	529/653,392/516,518/642	8620238	2,13004	2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8620238G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1586G>A	4.37:g.8620238G>A	ENSP00000354255:p.Arg529His					CPZ_ENST00000360986.4_Missense_Mutation_p.R529H|CPZ_ENST00000382480.2_Missense_Mutation_p.R392H|CPZ_ENST00000315782.6_Missense_Mutation_p.R518H	p.R137H			Q66K79	CBPZ_HUMAN			8	3203	+			529			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.410G>A	CCDS33953.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.03	2.412400	0.42817	4.54E-4	0.0	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.43688	2.54;2.54;2.54;0.94	5.16	4.32	0.51571	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.064294	0.64402	D	0.000008	T	0.54615	0.1869	L	0.49513	1.565	0.47245	D	0.999363	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.965	T	0.55496	-0.8132	10	0.62326	D	0.03	-41.6269	10.4572	0.44557	0.1709:0.0:0.8291:0.0	.	518;529	Q66K79-2;Q66K79	.;CBPZ_HUMAN	H	529;392;518;137	ENSP00000354255:R529H;ENSP00000371920:R392H;ENSP00000315074:R518H;ENSP00000403981:R137H	ENSP00000315074:R518H	R	+	2	0	CPZ	8671138	1.000000	0.71417	0.963000	0.40424	0.068000	0.16541	2.592000	0.46171	1.161000	0.42604	0.561000	0.74099	CGC		0.597	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		6	189	0	0	0	1	0	6	189				
CYP26A1	1592	broad.mit.edu	37	10	94834670	94834670	+	Silent	SNP	C	C	T	rs199767327		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94834670C>T	ENST00000224356.4	+	3	594	c.549C>T	c.(547-549)cgC>cgT	p.R183R	CYP26A1_ENST00000394139.1_Silent_p.R114R|CYP26A1_ENST00000371531.1_Silent_p.R114R	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	183					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	AGGTGAAGCGCCTCATGTTCC	0.652																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(340-342)cgC>cgT		cytochrome P450, family 26, subfamily A, polypeptide 1							45.0	49.0	47.0					10																	94834670		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834670C>T	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.549C>T	10.37:g.94834670C>T						CYP26A1_ENST00000394139.1_Silent_p.R114R|CYP26A1_ENST00000224356.4_Silent_p.R183R	p.R114R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			3	720	+		Colorectal(252;0.122)	183					B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	ENST00000224356.4	37	c.342C>T	CCDS7426.1																																																																																				0.652	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			92	413	0	0	0	1	0	92	413				
PDE5A	8654	broad.mit.edu	37	4	120463721	120463721	+	Missense_Mutation	SNP	C	C	T	rs200355800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120463721C>T	ENST00000354960.3	-	10	1784	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	489	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AGAAACTGTTCGTCATTTCGG	0.438																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1465-1467)Gaa>Aaa		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						137.0	129.0	131.0					4																	120463721		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120463721C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1465G>A	4.37:g.120463721C>T	ENSP00000347046:p.Glu489Lys					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|PDE5A_ENST00000512739.1_5'UTR	p.E489K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			10	1784	-			489			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1465G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454552	0.96223	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68624	-0.34;-0.34;-0.34	5.37	5.37	0.77165	GAF (2);	0.050029	0.85682	N	0.000000	D	0.83326	0.5230	M	0.89095	3.005	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.59643	0.529;0.861	D	0.85834	0.1393	10	0.59425	D	0.04	.	19.4801	0.95007	0.0:1.0:0.0:0.0	.	489;447	O76074;O76074-2	PDE5A_HUMAN;.	K	489;437;447	ENSP00000347046:E489K;ENSP00000377957:E437K;ENSP00000264805:E447K	ENSP00000264805:E447K	E	-	1	0	PDE5A	120683169	1.000000	0.71417	0.905000	0.35620	0.991000	0.79684	7.758000	0.85224	2.698000	0.92095	0.650000	0.86243	GAA		0.438	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		22	309	0	0	0	1	0	22	309				
JAKMIP2	9832	broad.mit.edu	37	5	147024484	147024484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147024484C>T	ENST00000265272.5	-	6	1479	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	338						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGTTCATCGTTTCTCTTG	0.433																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1012-1014)Gat>Aat		janus kinase and microtubule interacting protein 2							207.0	198.0	201.0					5																	147024484		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147024484C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1012G>A	5.37:g.147024484C>T	ENSP00000265272:p.Asp338Asn					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N	p.D338N	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1479	-			338					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1012G>A	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436271	0.96168	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.82711	-1.64;-1.64;-1.64	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	D	0.90640	0.4574	10	0.66056	D	0.02	.	19.7589	0.96306	0.0:1.0:0.0:0.0	.	296;338;338;338	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	N	338;338;296;338	ENSP00000421398:D338N;ENSP00000265272:D338N;ENSP00000328989:D296N	ENSP00000265272:D338N	D	-	1	0	JAKMIP2	147004677	1.000000	0.71417	0.967000	0.41034	0.951000	0.60555	7.412000	0.80091	2.746000	0.94184	0.591000	0.81541	GAT		0.433	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		124	510	0	0	0	1	0	124	510				
MUC17	140453	broad.mit.edu	37	7	100681006	100681006	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100681006A>G	ENST00000306151.4	+	3	6373	c.6309A>G	c.(6307-6309)ctA>ctG	p.L2103L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2103	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCCTCTACTAACAAGTA	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6307-6309)ctA>ctG		mucin 17, cell surface associated							201.0	202.0	201.0					7																	100681006		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681006A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6309A>G	7.37:g.100681006A>G							p.L2103L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6373	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2103			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6309A>G	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		286	1253	0	0	0	1	0	286	1253				
CUL4B	8450	broad.mit.edu	37	X	119668403	119668403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668403C>T	ENST00000404115.3	-	19	2654	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	CUL4B_ENST00000371322.5_Silent_p.L733L|CUL4B_ENST00000336592.6_Silent_p.L738L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	751					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTAGCAGCACCAGTGTTTGAA	0.348																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2197-2199)ctG>ctA		cullin 4B							161.0	151.0	154.0					X																	119668403		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119668403C>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2253G>A	X.37:g.119668403C>T						CUL4B_ENST00000404115.3_Silent_p.L751L|CUL4B_ENST00000336592.6_Silent_p.L738L	p.L733L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			17	2260	-			751					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.2199G>A	CCDS35379.1																																																																																				0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		131	565	0	0	0	1	0	131	565				
ABHD17A	81926	broad.mit.edu	37	19	1881373	1881373	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1881373G>A	ENST00000292577.7	-	2	626	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ABHD17A_ENST00000590661.1_Missense_Mutation_p.R65C|ABHD17A_ENST00000250974.9_Missense_Mutation_p.R65C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	65						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGCTTCCAGCGCCCGGGTGCG	0.731																																						ENST00000292577.7																			0											c.(193-195)Cgc>Tgc		abhydrolase domain containing 17A							9.0	11.0	10.0					19																	1881373		2059	4142	6201	SO:0001583	missense	81926							g.chr19:1881373G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.193C>T	19.37:g.1881373G>A	ENSP00000292577:p.Arg65Cys					ABHD17A_ENST00000250974.9_Missense_Mutation_p.R65C|ABHD17A_ENST00000590661.1_Missense_Mutation_p.R65C	p.R65C	NM_001130111.1	NP_001123583.1					2	626	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	c.193C>T	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.394954	0.25205	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.33865	1.39;1.45	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.43554	1.36	0.80722	D	1	B;B;B;B	0.23442	0.009;0.085;0.048;0.085	B;B;B;B	0.15870	0.004;0.013;0.014;0.013	T	0.18903	-1.0322	10	0.66056	D	0.02	-37.6608	10.516	0.44889	0.0:0.0:0.8065:0.1935	.	65;65;65;65	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	C	65	ENSP00000250974:R65C;ENSP00000292577:R65C	ENSP00000250974:R65C	R	-	1	0	FAM108A1	1832373	0.840000	0.29493	0.899000	0.35326	0.297000	0.27493	0.502000	0.22594	2.108000	0.64289	0.561000	0.74099	CGC		0.731	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		24	148	0	0	0	1	0	24	148				
ARFGEF1	10565	broad.mit.edu	37	8	68183949	68183949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68183949C>A	ENST00000262215.3	-	10	1949	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	520					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATTTGCATCTTCAGATGTG	0.318																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1558-1560)aaG>aaT		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							47.0	47.0	47.0					8																	68183949		2203	4299	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68183949C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1560G>T	8.37:g.68183949C>A	ENSP00000262215:p.Lys520Asn						p.K520N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		10	1949	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	520					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1560G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	c	18.87	3.715340	0.68844	.	.	ENSG00000066777	ENST00000262215	T	0.64618	-0.11	5.44	4.56	0.56223	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	10	0.66056	D	0.02	.	8.3321	0.32193	0.0:0.7776:0.0:0.2224	.	520	Q9Y6D6	BIG1_HUMAN	N	520	ENSP00000262215:K520N	ENSP00000262215:K520N	K	-	3	2	ARFGEF1	68346503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.531000	0.36018	2.545000	0.85829	0.585000	0.79938	AAG		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		29	130	1	0	7.26314e-15	1	7.90818e-15	29	130				
WDR11	55717	broad.mit.edu	37	10	122630757	122630757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122630757C>T	ENST00000263461.6	+	10	1616	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTCCTGCTGACGGGACTGCTT	0.468																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1369-1371)aCg>aTg		WD repeat domain 11							111.0	95.0	100.0					10																	122630757		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122630757C>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1370C>T	10.37:g.122630757C>T	ENSP00000263461:p.Thr457Met						p.T457M	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			10	1616	+			457					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.1370C>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242164	0.22796	.	.	ENSG00000120008	ENST00000263461	D	0.91631	-2.88	5.29	5.29	0.74685	.	0.149594	0.64402	D	0.000016	D	0.89157	0.6635	L	0.54323	1.7	0.42261	D	0.992011	P;P	0.47910	0.902;0.902	B;B	0.38458	0.274;0.274	D	0.90896	0.4765	10	0.87932	D	0	-15.858	14.2591	0.66073	0.0:0.9264:0.0:0.0736	.	457;457	Q9BZH6;B2RCJ6	WDR11_HUMAN;.	M	457	ENSP00000263461:T457M	ENSP00000263461:T457M	T	+	2	0	WDR11	122620747	0.999000	0.42202	0.069000	0.20011	0.070000	0.16714	4.530000	0.60595	2.468000	0.83385	0.591000	0.81541	ACG		0.468	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			82	286	0	0	0	1	0	82	286				
CTNS	1497	broad.mit.edu	37	17	3559853	3559853	+	Silent	SNP	C	C	T	rs113967200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3559853C>T	ENST00000046640.3	+	8	1127	c.534C>T	c.(532-534)atC>atT	p.I178I	CTNS_ENST00000381870.3_Silent_p.I178I|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Silent_p.I31I|CTNS_ENST00000441220.2_Silent_p.I70I	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	178	PQ-loop 1.				adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TATTCAACATCGGCCTCCTCT	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12012	0.0		0.0	False		,,,				2504	0.0					ENST00000046640.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10						c.(532-534)atC>atT		cystinosin, lysosomal cystine transporter	L-Cystine(DB00138)	C	,	5,4399	11.4+/-27.6	0,5,2197	150.0	109.0	123.0		534,534	-5.2	0.9	17	dbSNP_132	123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CTNS	NM_001031681.2,NM_004937.2	,	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	,	178/401,178/368	3559853	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3559853C>T	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.534C>T	17.37:g.3559853C>T						CTNS_ENST00000414524.2_Silent_p.I31I|CTNS_ENST00000381870.3_Silent_p.I178I|CTNS_ENST00000441220.2_Silent_p.I70I|RP11-235E17.6_ENST00000575741.1_RNA	p.I178I	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	8	1127	+			178			PQ-loop 1.		D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	37	c.534C>T	CCDS11031.1																																																																																				0.612	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		45	186	0	0	0	1	0	45	186				
CD1D	912	broad.mit.edu	37	1	158152911	158152911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158152911G>A	ENST00000368171.3	+	5	1350	c.851G>A	c.(850-852)aGc>aAc	p.S284N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	284	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGAAGCACAGCAGTCTAGAG	0.607																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(850-852)aGc>aAc		CD1d molecule							89.0	80.0	83.0					1																	158152911		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152911G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.851G>A	1.37:g.158152911G>A	ENSP00000357153:p.Ser284Asn						p.S284N	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1350	+	all_hematologic(112;0.0378)		284			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.851G>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915095	0.73098	.	.	ENSG00000158473	ENST00000368171	T	0.03124	4.04	5.3	3.42	0.39159	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.64402	D	0.000012	T	0.12178	0.0296	M	0.94021	3.485	0.30875	N	0.732041	D	0.71674	0.998	D	0.78314	0.991	T	0.06607	-1.0817	10	0.87932	D	0	-21.1727	8.3195	0.32121	0.185:0.0:0.815:0.0	.	284	P15813	CD1D_HUMAN	N	284	ENSP00000357153:S284N	ENSP00000357153:S284N	S	+	2	0	CD1D	156419535	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.371000	0.59523	0.722000	0.32252	0.655000	0.94253	AGC		0.607	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		13	424	0	0	0	1	0	13	424				
SLC38A3	10991	broad.mit.edu	37	3	50255260	50255260	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50255260G>A	ENST00000420502.1	+	0	996									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GCTACTTCACGCTCAACTCAC	0.592																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						85.0	91.0	89.0					3																	50255260		2126	4234	6360			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255260G>A	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255260G>A										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	996	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.592	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		93	353	0	0	0	1	0	93	353				
SYT17	51760	broad.mit.edu	37	16	19195263	19195263	+	Missense_Mutation	SNP	C	C	T	rs374172730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19195263C>T	ENST00000355377.2	+	5	1143	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	SYT17_ENST00000562034.1_Missense_Mutation_p.R188C|SYT17_ENST00000562711.2_Missense_Mutation_p.R245C|SYT17_ENST00000568115.1_Missense_Mutation_p.R188C	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGGGGTCAAACGCAAGACCCA	0.597																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(562-564)Cgc>Tgc		synaptotagmin XVII			CYS/ARG	0,4394		0,0,2197	125.0	114.0	118.0		745	5.7	1.0	16		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT17	NM_016524.2	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	249/475	19195263	1,12993	2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195263C>T		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.745C>T	16.37:g.19195263C>T	ENSP00000347538:p.Arg249Cys					SYT17_ENST00000568115.1_Missense_Mutation_p.R188C|SYT17_ENST00000355377.2_Missense_Mutation_p.R249C|SYT17_ENST00000562711.2_Missense_Mutation_p.R245C	p.R188C			Q9BSW7	SYT17_HUMAN			3	4360	+			249			C2 1.		O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.562C>T	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	c	19.59	3.855826	0.71834	0.0	1.16E-4	ENSG00000103528	ENST00000355377	T	0.70749	-0.51	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.74558	0.3732	M	0.65975	2.015	0.80722	D	1	B;B	0.24618	0.107;0.061	B;B	0.31946	0.095;0.138	T	0.73033	-0.4110	10	0.87932	D	0	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	249;188	Q9BSW7;B4DJB2	SYT17_HUMAN;.	C	249	ENSP00000347538:R249C	ENSP00000347538:R249C	R	+	1	0	SYT17	19102764	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.747000	0.62141	2.661000	0.90470	0.558000	0.71614	CGC		0.597	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		139	717	0	0	0	1	0	139	717				
SLC4A10	57282	broad.mit.edu	37	2	162833294	162833294	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833294A>G	ENST00000446997.1	+	25	3345	c.3252A>G	c.(3250-3252)atA>atG	p.I1084M	SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000375514.5_Missense_Mutation_p.I1065M|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1084					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGATCAATATATCTGATGAAA	0.358																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3193-3195)atA>atG		solute carrier family 4, sodium bicarbonate transporter, member 10							55.0	52.0	53.0					2																	162833294		1837	4080	5917	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162833294A>G		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3252A>G	2.37:g.162833294A>G	ENSP00000393066:p.Ile1084Met					SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Missense_Mutation_p.I1084M|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M	p.I1065M	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			25	3482	+			1084					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.3195A>G	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669050	0.67814	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	D;D;D;D	0.83163	-1.67;-1.65;-1.66;-1.69	6.03	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.92317	3.295	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.977	D	0.90605	0.4547	10	0.87932	D	0	.	8.317	0.32106	0.1205:0.0646:0.0:0.815	.	1065;1054;1084	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	M	1065;1054;1054;1053;1084;1083	ENSP00000364664:I1065M;ENSP00000395797:I1054M;ENSP00000272716:I1054M;ENSP00000393066:I1084M	ENSP00000272716:I1054M	I	+	3	3	SLC4A10	162541540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.808000	0.38912	0.508000	0.28173	-0.302000	0.09304	ATA		0.358	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		14	42	0	0	0	1	0	14	42				
ZNF845	91664	broad.mit.edu	37	19	53855474	53855474	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855474A>C	ENST00000595091.1	+	5	1765	c.1546A>C	c.(1546-1548)Att>Ctt	p.I516L	ZNF845_ENST00000458035.1_Missense_Mutation_p.I516L			Q96IR2	ZN845_HUMAN	zinc finger protein 845	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATAGGATAATTCATACTGG	0.378																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1546-1548)Att>Ctt		zinc finger protein 845							25.0	23.0	24.0					19																	53855474		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855474A>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1546A>C	19.37:g.53855474A>C	ENSP00000470005:p.Ile516Leu					ZNF845_ENST00000595091.1_Missense_Mutation_p.I516L	p.I516L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1663	+			516						Missense_Mutation	SNP	ENST00000595091.1	37	c.1546A>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335541	0.24253	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07327	3.2	2.04	-0.274	0.12910	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.17379	0.485	0.09310	N	1	B	0.17667	0.023	B	0.32533	0.147	T	0.46162	-0.9211	9	0.37606	T	0.19	.	5.6646	0.17689	0.7162:0.0:0.2837:0.0	.	516	Q96IR2	ZN845_HUMAN	L	516	ENSP00000388311:I516L	ENSP00000412086:I516L	I	+	1	0	ZNF845	58547286	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.556000	0.23438	-0.291000	0.09012	0.333000	0.21579	ATT		0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		61	305	0	0	0	1	0	61	305				
NPR2	4882	broad.mit.edu	37	9	35811564	35811564	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35811564C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000396638.2_Missense_Mutation_p.G160D|TMEM8B_ENST00000377996.1_5'Flank|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.G160D|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_Missense_Mutation_p.G158D	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	aggaccagagccagagccaga	0.602																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(478-480)gGc>gAc		sperm associated antigen 8							51.0	38.0	42.0					9																	35811564		2202	4300	6502	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811564C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811564C>T						SPAG8_ENST00000484764.1_Missense_Mutation_p.G158D|SPAG8_ENST00000396638.2_Missense_Mutation_p.G160D	p.G160D	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	603	-	all_epithelial(49;0.161)		160			Gly-rich.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.479G>A	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.36|13.36	2.212648|2.212648	0.39102|0.39102	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|T;T;T	.|0.54279	.|0.58;0.58;0.58	4.41|4.41	-0.951|-0.951	0.10369|0.10369	.|.	.|0.504809	.|0.17191	.|N	.|0.183507	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.13594	.|0.008;0.008	.|B;B	.|0.17433	.|0.018;0.018	T|T	0.08973|0.08973	-1.0696|-1.0696	5|10	.|0.41790	.|T	.|0.15	0.346|0.346	0.7469|0.7469	0.00984|0.00984	0.1673:0.3683:0.1629:0.3014|0.1673:0.3683:0.1629:0.3014	.|.	.|160;160	.|E9PDV6;Q99932-2	.|.;.	T|D	158|160;158;160	.|ENSP00000340982:G160D;ENSP00000418072:G158D;ENSP00000379878:G160D	.|ENSP00000340982:G160D	A|G	-|-	1|2	0|0	SPAG8|SPAG8	35801564|35801564	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.108000|0.108000	0.19459|0.19459	-0.181000|-0.181000	0.09740|0.09740	-0.156000|-0.156000	0.11079|0.11079	-0.150000|-0.150000	0.13652|0.13652	GCT|GGC		0.602	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			36	141	0	0	0	1	0	36	141				
PEX1	5189	broad.mit.edu	37	7	92135622	92135622	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92135622T>C	ENST00000248633.4	-	11	1935	c.1840A>G	c.(1840-1842)Aaa>Gaa	p.K614E	PEX1_ENST00000541751.1_Missense_Mutation_p.K31E|PEX1_ENST00000438045.1_Missense_Mutation_p.K292E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	614					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AATGCTTCTTTACAGATTGCT	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1840-1842)Aaa>Gaa		peroxisomal biogenesis factor 1							160.0	152.0	155.0					7																	92135622		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92135622T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1840A>G	7.37:g.92135622T>C	ENSP00000248633:p.Lys614Glu					PEX1_ENST00000438045.1_Missense_Mutation_p.K292E|PEX1_ENST00000541751.1_Missense_Mutation_p.K31E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E	p.K614E	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		11	1935	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	614					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1840A>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900065	0.52227	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000541751;ENST00000545192	D;D;T;D	0.93076	-3.16;-3.16;2.25;-3.16	5.2	2.75	0.32379	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.326457	0.36338	N	0.002645	D	0.89952	0.6864	L	0.38175	1.15	0.35821	D	0.824617	P;P;P	0.41366	0.698;0.698;0.747	B;B;B	0.43386	0.338;0.341;0.418	D	0.89190	0.3550	10	0.48119	T	0.1	-8.6891	11.8096	0.52175	0.0:0.0:0.3037:0.6963	.	292;406;614	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	E	292;614;614;31;614	ENSP00000410438:K292E;ENSP00000248633:K614E;ENSP00000394413:K614E;ENSP00000438637:K31E	ENSP00000248633:K614E	K	-	1	0	PEX1	91973558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.065000	0.49994	0.278000	0.22164	0.454000	0.30748	AAA		0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		119	399	0	0	0	1	0	119	399				
ACTR3C	653857	broad.mit.edu	37	7	149983532	149983532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149983532G>A	ENST00000539352.1	-	5	646	c.395C>T	c.(394-396)gCg>gTg	p.A132V	ACTR3C_ENST00000252071.4_Missense_Mutation_p.A132V	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	132						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)										CTGGTTGATCGCATTGATACC	0.418																																						ENST00000539352.1																			0											c.(394-396)gCg>gTg		ARP3 actin-related protein 3 homolog C (yeast)							159.0	169.0	166.0					7																	149983532		692	1591	2283	SO:0001583	missense	653857				regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding	g.chr7:149983532G>A		CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.395C>T	7.37:g.149983532G>A	ENSP00000440990:p.Ala132Val					ACTR3C_ENST00000252071.4_Missense_Mutation_p.A132V	p.A132V	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN			5	646	-			132					Q5CZI4	Missense_Mutation	SNP	ENST00000539352.1	37	c.395C>T	CCDS47744.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383883	0.25031	.	.	ENSG00000106526	ENST00000478393;ENST00000252071;ENST00000539352	T;T;T	0.07216	3.21;3.21;3.21	2.3	2.3	0.28687	.	0.163294	0.39687	N	0.001298	T	0.06188	0.0160	L	0.33485	1.01	0.32708	N	0.511942	B	0.21606	0.058	B	0.06405	0.002	T	0.13072	-1.0523	9	.	.	.	.	10.7476	0.46189	0.0:0.0:1.0:0.0	.	132	Q9C0K3	ARP3C_HUMAN	V	130;132;132	ENSP00000417426:A130V;ENSP00000252071:A132V;ENSP00000440990:A132V	.	A	-	2	0	ACTR3C	149614465	1.000000	0.71417	0.951000	0.38953	0.275000	0.26752	5.805000	0.69143	1.604000	0.50143	0.184000	0.17185	GCG		0.418	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350676.2			105	551	0	0	0	1	0	105	551				
HAO2	51179	broad.mit.edu	37	1	119923708	119923708	+	5'UTR	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119923708A>C	ENST00000325945.3	+	0	73				HAO2_ENST00000361035.4_Missense_Mutation_p.E13D	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)						fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AAGGTCCAGAAATGTCCTTGG	0.453																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(37-39)gaA>gaC		hydroxyacid oxidase 2 (long chain)							177.0	170.0	172.0					1																	119923708		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119923708A>C	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.-1A>C	1.37:g.119923708A>C						HAO2_ENST00000325945.3_5'UTR	p.E13D	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	3	322	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	0			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.39A>C	CCDS901.1	.	.	.	.	.	.	.	.	.	.	A	8.040	0.763721	0.15914	.	.	ENSG00000116882	ENST00000361035	T	0.30182	1.54	5.4	3.02	0.34903	.	0.798993	0.10999	N	0.610682	T	0.15262	0.0368	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17410	-1.0370	6	.	.	.	-8.5004	5.014	0.14326	0.7215:0.0:0.1439:0.1346	.	.	.	.	D	13	ENSP00000354314:E13D	.	E	+	3	2	HAO2	119725231	1.000000	0.71417	0.998000	0.56505	0.248000	0.25809	1.749000	0.38319	0.333000	0.23563	0.533000	0.62120	GAA		0.453	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		65	661	0	0	0	1	0	65	661				
MYOM1	8736	broad.mit.edu	37	18	3173962	3173962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3173962G>T	ENST00000356443.4	-	8	1481	c.1148C>A	c.(1147-1149)gCt>gAt	p.A383D	MYOM1_ENST00000400569.3_Missense_Mutation_p.A383D|MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	383					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGAAGCCCCAGCGTGGAAGCG	0.408																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1147-1149)gCt>gAt		myomesin 1							80.0	77.0	78.0					18																	3173962		1865	4105	5970	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3173962G>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1148C>A	18.37:g.3173962G>T	ENSP00000348821:p.Ala383Asp					MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D|MYOM1_ENST00000356443.4_Missense_Mutation_p.A383D	p.A383D			P52179	MYOM1_HUMAN			8	1481	-			383					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1148C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117782	0.20877	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.9;0.91;0.77	5.97	3.07	0.35406	.	0.740364	0.13140	N	0.410730	T	0.28566	0.0707	N	0.08118	0	0.20489	N	0.999899	B;B	0.25772	0.127;0.134	B;B	0.29942	0.109;0.051	T	0.22871	-1.0204	10	0.15952	T	0.53	.	12.3769	0.55285	0.0:0.2439:0.6345:0.1216	.	383;383	P52179-2;P52179	.;MYOM1_HUMAN	D	383	ENSP00000348821:A383D;ENSP00000383413:A383D;ENSP00000261606:A383D	ENSP00000261606:A383D	A	-	2	0	MYOM1	3163962	0.931000	0.31567	0.010000	0.14722	0.534000	0.34807	2.833000	0.48159	0.349000	0.23975	0.655000	0.94253	GCT		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		35	194	1	0	1.96642e-18	1	2.182e-18	35	194				
ZNF652	22834	broad.mit.edu	37	17	47394342	47394342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394342T>G	ENST00000362063.2	-	2	1064	c.746A>C	c.(745-747)aAg>aCg	p.K249T	ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCTGGGGCACTTCTCACAGGT	0.488																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(745-747)aAg>aCg		zinc finger protein 652							174.0	146.0	155.0					17																	47394342		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394342T>G	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.746A>C	17.37:g.47394342T>G	ENSP00000354686:p.Lys249Thr					ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	p.K249T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1064	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		249					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.746A>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833468	0.71258	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.52295	0.67;0.67	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	N	0.11789	0.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60895	-0.7172	10	0.66056	D	0.02	-21.598	15.4338	0.75125	0.0:0.0:0.0:1.0	.	249	Q9Y2D9	ZN652_HUMAN	T	249	ENSP00000354686:K249T;ENSP00000416305:K249T	ENSP00000354686:K249T	K	-	2	0	ZNF652	44749341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.132000	0.65825	0.533000	0.62120	AAG		0.488	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		44	417	0	0	0	1	0	44	417				
ARHGAP21	57584	broad.mit.edu	37	10	24880606	24880606	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880606A>C	ENST00000396432.2	-	23	4495	c.4009T>G	c.(4009-4011)Tgg>Ggg	p.W1337G	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1336	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAAAAACCAGTCATGCTAA	0.373																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4009-4011)Tgg>Ggg		Rho GTPase activating protein 21							77.0	81.0	80.0					10																	24880606		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880606A>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4009T>G	10.37:g.24880606A>C	ENSP00000379709:p.Trp1337Gly					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	p.W1337G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			23	4495	-			1336			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4009T>G	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.833261|2.833261	0.50951|0.50951	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000418033|ENST00000396432;ENST00000447364;ENST00000320481	.|T;T	.|0.11169	.|2.8;2.8	5.43|5.43	4.3|4.3	0.51218|0.51218	.|Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	.|0.123729	.|0.64402	.|D	.|0.000015	T|T	0.35128|0.35128	0.0921|0.0921	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.62326	.|D	.|0.03	.|.	11.3975|11.3975	0.49851|0.49851	0.9288:0.0:0.0711:0.0|0.9288:0.0:0.0711:0.0	.|.	.|1336	.|Q5T5U3	.|RHG21_HUMAN	R|G	150|1337;786;1124	.|ENSP00000379709:W1337G;ENSP00000365604:W1124G	.|ENSP00000365604:W1124G	L|W	-|-	2|1	0|0	ARHGAP21|ARHGAP21	24920612|24920612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.670000|8.670000	0.91168|0.91168	1.010000|1.010000	0.39314|0.39314	0.460000|0.460000	0.39030|0.39030	CTG|TGG		0.373	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		72	362	0	0	0	1	0	72	362				
FBN1	2200	broad.mit.edu	37	15	48720570	48720570	+	Missense_Mutation	SNP	C	C	T	rs148831709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48720570C>T	ENST00000316623.5	-	57	7425	c.6970G>A	c.(6970-6972)Gcc>Acc	p.A2324T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2324	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGGGCTGGCGGTAAACCCA	0.542																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6970-6972)Gcc>Acc		fibrillin 1		C	THR/ALA	0,4396		0,0,2198	129.0	92.0	105.0		6970	2.8	0.4	15	dbSNP_134	105	1,8591	1.2+/-3.3	0,1,4295	no	missense	FBN1	NM_000138.4	58	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign	2324/2872	48720570	1,12987	2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48720570C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6970G>A	15.37:g.48720570C>T	ENSP00000325527:p.Ala2324Thr						p.A2324T	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	57	7425	-		all_lung(180;0.00279)	2324			EGF-like 40; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6970G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590464	0.28357	0.0	1.16E-4	ENSG00000166147	ENST00000316623;ENST00000389087	D	0.91996	-2.95	5.76	2.81	0.32909	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202371	0.51477	D	0.000092	D	0.85017	0.5601	N	0.21448	0.665	0.80722	D	1	B	0.21381	0.055	B	0.14578	0.011	T	0.75393	-0.3333	10	0.12766	T	0.61	.	16.8327	0.85949	0.0:0.6384:0.3616:0.0	.	2324	P35555	FBN1_HUMAN	T	2324;892	ENSP00000325527:A2324T	ENSP00000325527:A2324T	A	-	1	0	FBN1	46507862	0.078000	0.21339	0.390000	0.26220	0.652000	0.38707	0.390000	0.20768	0.335000	0.23614	0.555000	0.69702	GCC		0.542	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			23	222	0	0	0	1	0	23	222				
ANKRD11	29123	broad.mit.edu	37	16	89341273	89341273	+	Silent	SNP	G	G	T	rs139657234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341273G>T	ENST00000301030.4	-	11	8122	c.7662C>A	c.(7660-7662)gcC>gcA	p.A2554A	ANKRD11_ENST00000378330.2_Silent_p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2554					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCATCGTGCAGGCGCTGAATG	0.622																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7660-7662)gcC>gcA		ankyrin repeat domain 11							64.0	60.0	61.0					16																	89341273		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341273G>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7662C>A	16.37:g.89341273G>T						ANKRD11_ENST00000378330.2_Silent_p.A2554A	p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	11	8122	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2554					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7662C>A	CCDS32513.1																																																																																				0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		16	445	1	0	1.5739e-10	1	1.67034e-10	16	445				
DAB2	1601	broad.mit.edu	37	5	39381710	39381710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39381710G>A	ENST00000320816.6	-	11	1817	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	DAB2_ENST00000339788.6_Silent_p.A232A|DAB2_ENST00000509337.1_Silent_p.A429A|DAB2_ENST00000545653.1_Silent_p.A429A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	450					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCAAGTCATTGGCTGAAGACT	0.522																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(1348-1350)gcC>gcT		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							103.0	99.0	100.0					5																	39381710		2203	4300	6503	SO:0001819	synonymous_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39381710G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1350C>T	5.37:g.39381710G>A						DAB2_ENST00000339788.6_Silent_p.A232A|DAB2_ENST00000545653.1_Silent_p.A429A|DAB2_ENST00000509337.1_Silent_p.A429A	p.A450A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		11	1817	-	all_lung(31;0.000197)		450					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.1350C>T	CCDS34149.1																																																																																				0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		66	264	0	0	0	1	0	66	264				
SLFN5	162394	broad.mit.edu	37	17	33591403	33591403	+	Missense_Mutation	SNP	A	A	C	rs138507199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33591403A>C	ENST00000299977.4	+	4	1488	c.1340A>C	c.(1339-1341)aAc>aCc	p.N447T	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	447					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATTTCCCAGAACAACACCCCT	0.448																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1339-1341)aAc>aCc		schlafen family member 5							122.0	118.0	119.0					17																	33591403		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591403A>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1340A>C	17.37:g.33591403A>C	ENSP00000299977:p.Asn447Thr					SLFN5_ENST00000542451.1_Intron	p.N447T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1488	+		Ovarian(249;0.17)	447					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1340A>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	a	12.40	1.926981	0.34002	.	.	ENSG00000166750	ENST00000299977	T	0.02369	4.32	3.46	3.46	0.39613	.	0.332867	0.21783	N	0.069164	T	0.05318	0.0141	M	0.78049	2.395	0.25796	N	0.984569	P	0.37781	0.608	B	0.36534	0.227	T	0.15578	-1.0432	10	0.87932	D	0	.	8.5002	0.33152	1.0:0.0:0.0:0.0	.	447	Q08AF3	SLFN5_HUMAN	T	447	ENSP00000299977:N447T	ENSP00000299977:N447T	N	+	2	0	SLFN5	30615516	0.000000	0.05858	0.049000	0.19019	0.978000	0.69477	0.471000	0.22100	1.579000	0.49836	0.533000	0.62120	AAC		0.448	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		80	351	0	0	0	1	0	80	351				
TTN	7273	broad.mit.edu	37	2	179478614	179478614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179478614C>T	ENST00000591111.1	-	213	44697	c.44473G>A	c.(44473-44475)Gca>Aca	p.A14825T	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16466T|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14825	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AGAGTCACTGCGTCTTTAGTG	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49396-49398)Gca>Aca		titin							171.0	166.0	167.0					2																	179478614		1964	4169	6133	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478614C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44473G>A	2.37:g.179478614C>T	ENSP00000465570:p.Ala14825Thr					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A14825T	p.A16466T	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)		263	49620	-			14825			Fibronectin type-III 19.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.49396G>A		.	.	.	.	.	.	.	.	.	.	C	14.86	2.660471	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.07	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35799	0.0944	N	0.11106	0.095	0.45502	D	0.998463	P;P;P;P	0.49862	0.929;0.929;0.929;0.929	B;B;B;B	0.42361	0.385;0.385;0.385;0.385	T	0.37220	-0.9715	9	0.87932	D	0	.	12.6162	0.56578	0.3127:0.6873:0.0:0.0	.	7401;7526;7593;14825	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13898;7401;7593;7526;7401	ENSP00000343764:A13898T;ENSP00000434586:A7401T;ENSP00000340554:A7593T;ENSP00000352154:A7526T	ENSP00000340554:A7593T	A	-	1	0	TTN	179186859	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.200000	0.42724	2.885000	0.99019	0.655000	0.94253	GCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		165	491	0	0	0	1	0	165	491				
DOCK2	1794	broad.mit.edu	37	5	169116331	169116331	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169116331C>A	ENST00000256935.8	+	9	917	c.837C>A	c.(835-837)gtC>gtA	p.V279V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	279					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAGGTGGTCTTCACGGTGA	0.552																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(835-837)gtC>gtA		dedicator of cytokinesis 2							151.0	126.0	134.0					5																	169116331		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169116331C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.837C>A	5.37:g.169116331C>A							p.V279V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	917	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	279					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.837C>A	CCDS4371.1																																																																																				0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		40	171	1	0	1.59361e-14	1	1.73214e-14	40	171				
EPHB3	2049	broad.mit.edu	37	3	184299391	184299391	+	Missense_Mutation	SNP	C	C	T	rs200546160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184299391C>T	ENST00000330394.2	+	16	3430	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	993					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGAACCAGACGCTGCCTGTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17860	0.0		0.001	False		,,,				2504	0.0					ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2977-2979)aCg>aTg		EPH receptor B3							41.0	39.0	40.0					3																	184299391		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184299391C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2978C>T	3.37:g.184299391C>T	ENSP00000332118:p.Thr993Met					EIF2B5_ENST00000444495.1_Intron	p.T993M	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		16	3430	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		993					Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2978C>T	CCDS3268.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.94	3.259532	0.59321	.	.	ENSG00000182580	ENST00000330394	T	0.06528	3.29	4.36	4.36	0.52297	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	N	0.16307	0.4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.20519	T	0.43	.	16.7884	0.85580	0.0:1.0:0.0:0.0	.	993	P54753	EPHB3_HUMAN	M	993	ENSP00000332118:T993M	ENSP00000332118:T993M	T	+	2	0	EPHB3	185782085	0.999000	0.42202	0.981000	0.43875	0.946000	0.59487	4.054000	0.57434	2.378000	0.81104	0.643000	0.83706	ACG		0.617	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		26	100	0	0	0	1	0	26	100				
ARHGAP33	115703	broad.mit.edu	37	19	36278174	36278174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36278174G>A	ENST00000007510.4	+	21	2851	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	903					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGGCCCTGGCCCTGGCTGA	0.692																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2707-2709)Gcc>Acc		Rho GTPase activating protein 33							21.0	26.0	24.0					19																	36278174		2195	4283	6478	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278174G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2707G>A	19.37:g.36278174G>A	ENSP00000007510:p.Ala903Thr					ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T	p.A903T			O14559	RHG33_HUMAN			21	2851	+			903					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	17.15	3.316283	0.60524	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.27557	1.78;1.66;2.01	4.91	3.84	0.44239	.	0.314786	0.24016	N	0.042336	T	0.31482	0.0798	L	0.58101	1.795	0.32584	N	0.528092	B;B;B	0.18461	0.028;0.021;0.021	B;B;B	0.18561	0.016;0.022;0.015	T	0.40459	-0.9562	10	0.59425	D	0.04	.	12.694	0.56992	0.0:0.3178:0.6822:0.0	.	903;767;742	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	T	903;742;767	ENSP00000007510:A903T;ENSP00000320038:A742T;ENSP00000368227:A767T	ENSP00000007510:A903T	A	+	1	0	ARHGAP33	40970014	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.237000	0.58681	0.996000	0.38943	0.462000	0.41574	GCC		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		67	264	0	0	0	1	0	67	264				
LLGL2	3993	broad.mit.edu	37	17	73560573	73560573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73560573G>A	ENST00000392550.3	+	10	1138	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	341					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTCACAGAGGCAGACCCTGC	0.622																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1021-1023)Gca>Aca		lethal giant larvae homolog 2 (Drosophila)							41.0	41.0	41.0					17																	73560573		2202	4300	6502	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73560573G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1021G>A	17.37:g.73560573G>A	ENSP00000376333:p.Ala341Thr					LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T|LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T	p.A341T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		10	1138	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		341					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1021G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588842	0.46110	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.27256	2.77;2.77;1.68	4.89	4.89	0.63831	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.496878	0.23571	N	0.046747	T	0.11537	0.0281	N	0.08118	0	0.29145	N	0.878746	B;B;B;B;B	0.28128	0.201;0.167;0.001;0.002;0.004	B;B;B;B;B	0.31946	0.138;0.085;0.004;0.007;0.005	T	0.21008	-1.0258	10	0.02654	T	1	-1.1271	10.0042	0.41946	0.0:0.1377:0.7013:0.161	.	330;330;341;341;341	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	T	341;341;341;330	ENSP00000167462:A341T;ENSP00000376333:A341T;ENSP00000364375:A341T	ENSP00000167462:A341T	A	+	1	0	LLGL2	71072168	1.000000	0.71417	0.994000	0.49952	0.110000	0.19582	4.457000	0.60088	2.543000	0.85770	0.561000	0.74099	GCA		0.622	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		58	297	0	0	0	1	0	58	297				
OR2Z1	284383	broad.mit.edu	37	19	8841551	8841551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841551G>A	ENST00000324060.2	+	1	236	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGACTCCCGGCTCCATACA	0.552																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(160-162)cGg>cAg		olfactory receptor, family 2, subfamily Z, member 1							159.0	141.0	147.0					19																	8841551		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841551G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.161G>A	19.37:g.8841551G>A	ENSP00000316284:p.Arg54Gln						p.R54Q	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	236	+			54					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.161G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	5.987	0.366061	0.11352	.	.	ENSG00000181733	ENST00000324060	T	0.01119	5.31	4.23	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.252434	0.26231	N	0.025561	T	0.00875	0.0029	N	0.13299	0.325	0.09310	N	1	B	0.22604	0.072	B	0.17433	0.018	T	0.49952	-0.8884	10	0.26408	T	0.33	.	9.3472	0.38115	0.1149:0.0:0.8851:0.0	.	54	Q8NG97	OR2Z1_HUMAN	Q	54	ENSP00000316284:R54Q	ENSP00000316284:R54Q	R	+	2	0	OR2Z1	8702551	0.000000	0.05858	0.229000	0.23960	0.081000	0.17604	-0.176000	0.09811	0.885000	0.36088	0.543000	0.68304	CGG		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			114	479	0	0	0	1	0	114	479				
SPATA18	132671	broad.mit.edu	37	4	52945959	52945959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945959T>C	ENST00000295213.4	+	9	1603	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	SPATA18_ENST00000419395.2_Missense_Mutation_p.V378A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	410					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTCCCTCCTGTCGTTGACTTT	0.443																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1228-1230)gTc>gCc		spermatogenesis associated 18							292.0	273.0	279.0					4																	52945959		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945959T>C	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1229T>C	4.37:g.52945959T>C	ENSP00000295213:p.Val410Ala					SPATA18_ENST00000419395.2_Missense_Mutation_p.V378A	p.V410A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		9	1603	+			410					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1229T>C	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995522	0.35226	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.27720	1.65;4.33	5.55	4.36	0.52297	.	0.153319	0.56097	D	0.000021	T	0.15565	0.0375	N	0.08118	0	0.22827	N	0.998686	B;B;B	0.28258	0.01;0.017;0.205	B;B;B	0.21708	0.009;0.009;0.036	T	0.15378	-1.0439	10	0.56958	D	0.05	-12.8994	9.9848	0.41835	0.8421:0.0:0.0:0.1579	.	378;410;410	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	A	410;378	ENSP00000295213:V410A;ENSP00000415309:V378A	ENSP00000295213:V410A	V	+	2	0	SPATA18	52640716	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	5.017000	0.64047	1.108000	0.41662	-0.339000	0.08088	GTC		0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		137	1183	0	0	0	1	0	137	1183				
RINT1	60561	broad.mit.edu	37	7	105189035	105189035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105189035G>T	ENST00000257700.2	+	7	1105	c.874G>T	c.(874-876)Gaa>Taa	p.E292*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	292	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAACTCCCAGAAAAATACTC	0.423																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(874-876)Gaa>Taa		RAD50 interactor 1							191.0	165.0	173.0					7																	105189035		2203	4300	6503	SO:0001587	stop_gained	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105189035G>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.874G>T	7.37:g.105189035G>T	ENSP00000257700:p.Glu292*						p.E292*	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			7	1105	+			292			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Nonsense_Mutation	SNP	ENST00000257700.2	37	c.874G>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171327	0.98688	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.78	5.78	0.91487	.	0.401672	0.28252	N	0.016022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.3046	20.0098	0.97447	0.0:0.0:1.0:0.0	.	.	.	.	X	292	.	ENSP00000257700:E292X	E	+	1	0	RINT1	104976271	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.235000	0.78143	2.719000	0.93026	0.650000	0.86243	GAA		0.423	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		110	543	1	0	2.96303e-67	1	3.7527e-67	110	543				
CPO	130749	broad.mit.edu	37	2	207824388	207824388	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824388C>T	ENST00000272852.3	+	5	452	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	136						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCAAGTATACGCAAGCTCCT	0.348																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(406-408)Cgc>Tgc		carboxypeptidase O							129.0	126.0	127.0					2																	207824388		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207824388C>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.406C>T	2.37:g.207824388C>T	ENSP00000272852:p.Arg136Cys						p.R136C	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	5	452	+			136					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.406C>T	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.996849	0.19043	.	.	ENSG00000144410	ENST00000272852	T	0.11712	2.75	5.03	-0.188	0.13264	Peptidase M14, carboxypeptidase A (2);	0.831951	0.11639	N	0.544001	T	0.18467	0.0443	M	0.85542	2.76	0.09310	N	1	D	0.61697	0.99	P	0.47376	0.545	T	0.11891	-1.0569	10	0.66056	D	0.02	.	4.8295	0.13432	0.4353:0.3095:0.2552:0.0	.	136	Q8IVL8	CBPO_HUMAN	C	136	ENSP00000272852:R136C	ENSP00000272852:R136C	R	+	1	0	CPO	207532633	0.000000	0.05858	0.004000	0.12327	0.035000	0.12851	0.373000	0.20484	-0.165000	0.10908	-0.397000	0.06425	CGC		0.348	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		34	279	0	0	0	1	0	34	279				
DEF8	54849	broad.mit.edu	37	16	90025581	90025581	+	Intron	SNP	C	C	T	rs373389069	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90025581C>T	ENST00000268676.7	+	6	786				DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000418391.2_Nonsense_Mutation_p.R178*|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563848.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)						intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GAGACCCAGACGAGGAGTGAG	0.557													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20089	0.0		0.001	False		,,,				2504	0.0					ENST00000418391.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(532-534)Cga>Tga		differentially expressed in FDCP 8 homolog (mouse)		C	,,,,,stop/ARG,stop/ARG,stop/ARG,	1,4395	2.1+/-5.4	0,1,2197	58.0	61.0	60.0		,,,,,532,532,532,	-5.2	0.0	16		60	0,8600		0,0,4300	no	intron,intron,intron,intron,intron,stop-gained,stop-gained,stop-gained,intron	DEF8	NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_001242821.1,NM_001242822.1,NM_017702.3,NM_207514.2	,,,,,,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,,	,,,,,178/198,178/198,178/198,	90025581	1,12995	2198	4300	6498	SO:0001627	intron_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90025581C>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.697+18C>T	16.37:g.90025581C>T						DEF8_ENST00000563848.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000268676.7_Intron|DEF8_ENST00000569453.1_Intron	p.R178*	NM_001242821.1|NM_001242822.1|NM_017702.3	NP_001229750.1|NP_001229751.1|NP_060172.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	6	659	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	0					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Nonsense_Mutation	SNP	ENST00000268676.7	37	c.532C>T	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676855	0.47886	2.27E-4	0.0	ENSG00000140995	ENST00000418391	.	.	.	3.86	-5.23	0.02798	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5355	0.27708	0.3488:0.5486:0.0:0.1026	.	.	.	.	X	178	.	.	R	+	1	2	DEF8	88553082	0.003000	0.15002	0.000000	0.03702	0.172000	0.22775	1.295000	0.33377	-0.758000	0.04690	-1.516000	0.00938	CGA		0.557	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		47	201	0	0	0	1	0	47	201				
SEC14L4	284904	broad.mit.edu	37	22	30890926	30890926	+	Missense_Mutation	SNP	G	G	A	rs142766376	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30890926G>A	ENST00000255858.7	-	6	529	c.446C>T	c.(445-447)gCg>gTg	p.A149V	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V|SEC14L4_ENST00000381982.3_Missense_Mutation_p.A149V|SEC14L4_ENST00000392772.2_Missense_Mutation_p.A95V|RP4-539M6.14_ENST00000442126.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	149	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CACCATCAGCGCCATCTCGAT	0.592																																						ENST00000392772.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(283-285)gCg>gTg		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)	G	VAL/ALA,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	140.0	111.0	121.0		446,446	2.8	0.0	22	dbSNP_134	121	0,8600		0,0,4300	yes	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	64,64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign	149/361,149/407	30890926	5,13001	2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890926G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.446C>T	22.37:g.30890926G>A	ENSP00000255858:p.Ala149Val					SEC14L4_ENST00000255858.7_Missense_Mutation_p.A149V|SEC14L4_ENST00000381982.3_Missense_Mutation_p.A149V|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V	p.A95V			Q9UDX3	S14L4_HUMAN			6	561	-			149			CRAL-TRIO.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.284C>T	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	7.980	0.751077	0.15778	0.001135	0.0	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.95	2.8	0.32819	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.516723	0.20813	N	0.085214	T	0.44664	0.1304	N	0.03000	-0.44	0.24522	N	0.994152	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.27400	-1.0075	10	0.13853	T	0.58	-14.846	7.4929	0.27473	0.8194:0.0:0.1806:0.0	.	95;134;149	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	V	149;134;95;149	ENSP00000255858:A149V;ENSP00000440848:A134V;ENSP00000376525:A95V;ENSP00000371412:A149V	ENSP00000255858:A149V	A	-	2	0	SEC14L4	29220926	0.305000	0.24481	0.000000	0.03702	0.048000	0.14542	3.833000	0.55790	0.326000	0.23384	-0.373000	0.07131	GCG		0.592	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		82	329	0	0	0	1	0	82	329				
MLXIPL	51085	broad.mit.edu	37	7	73012016	73012016	+	Missense_Mutation	SNP	C	C	T	rs375307110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73012016C>T	ENST00000313375.3	-	9	1146	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	367					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCGCTGGAGTCCAAGGGGCCA	0.652																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1099-1101)Gac>Aac		MLX interacting protein-like		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,3258		0,0,1629	20.0	24.0	22.0		1099,1099,1099,1099	4.3	1.0	7		22	1,6775		0,1,3387	no	missense,missense,missense,missense	MLXIPL	NM_032951.2,NM_032952.2,NM_032953.2,NM_032954.2	23,23,23,23	0,1,5016	TT,TC,CC		0.0148,0.0,0.01	probably-damaging,probably-damaging,probably-damaging,probably-damaging	367/853,367/834,367/851,367/832	73012016	1,10033	1629	3388	5017	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73012016C>T	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1099G>A	7.37:g.73012016C>T	ENSP00000320886:p.Asp367Asn					MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N	p.D367N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			9	1146	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	367					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1099G>A	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851344	0.71719	0.0	1.48E-4	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24151	2.46;2.47;2.46;2.47;1.87;1.88	4.31	4.31	0.51392	.	1.866310	0.02698	N	0.111450	T	0.48223	0.1488	L	0.51422	1.61	0.19300	N	0.999974	D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.998;0.998;0.998	D;D;P;D;D;D	0.73708	0.981;0.917;0.829;0.917;0.917;0.917	T	0.21999	-1.0229	10	0.56958	D	0.05	-11.6524	9.7151	0.40270	0.2075:0.7925:0.0:0.0	.	274;274;367;367;367;367	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	N	367;367;367;367;274;274;200	ENSP00000412330:D367N;ENSP00000406296:D367N;ENSP00000320886:D367N;ENSP00000346629:D367N;ENSP00000378616:D274N;ENSP00000392636:D274N	ENSP00000320886:D367N	D	-	1	0	MLXIPL	72649952	0.996000	0.38824	0.998000	0.56505	0.942000	0.58702	1.454000	0.35178	1.945000	0.56424	0.423000	0.28283	GAC		0.652	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		16	195	0	0	0	1	0	16	195				
SLC2A3	6515	broad.mit.edu	37	12	8083844	8083844	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083844G>T	ENST00000075120.7	-	4	747	c.507C>A	c.(505-507)gcC>gcA	p.A169A		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	169					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGAGTACCTGGGCCACCAGAA	0.458																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(505-507)gcC>gcA		solute carrier family 2 (facilitated glucose transporter), member 3							60.0	59.0	59.0					12																	8083844		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083844G>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.507C>A	12.37:g.8083844G>T							p.A169A	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	4	747	-			169					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.507C>A	CCDS8586.1																																																																																				0.458	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		57	240	1	0	2.82306e-37	1	3.38865e-37	57	240				
CPA1	1357	broad.mit.edu	37	7	130022008	130022008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130022008G>T	ENST00000011292.3	+	4	591	c.441G>T	c.(439-441)caG>caT	p.Q147H	CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	147					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAAGATCCAGATTGGCAACA	0.522																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(439-441)caG>caT		carboxypeptidase A1 (pancreatic)							133.0	104.0	114.0					7																	130022008		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130022008G>T		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.441G>T	7.37:g.130022008G>T	ENSP00000011292:p.Gln147His					CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	p.Q147H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			4	591	+	Melanoma(18;0.0435)		147					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.441G>T	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.064932	0.20067	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.46	2.23	0.28157	Peptidase M14, carboxypeptidase A (2);	0.558393	0.20964	N	0.082509	T	0.08537	0.0212	L	0.37897	1.145	0.35752	D	0.819525	B;B	0.10296	0.002;0.003	B;B	0.13407	0.009;0.005	T	0.12016	-1.0564	10	0.40728	T	0.16	.	8.373	0.32425	0.0889:0.298:0.6131:0.0	.	59;147	B4DDW9;P15085	.;CBPA1_HUMAN	H	59;147;59;59	ENSP00000420218:Q59H;ENSP00000011292:Q147H;ENSP00000419408:Q59H;ENSP00000419497:Q59H	ENSP00000011292:Q147H	Q	+	3	2	CPA1	129809244	1.000000	0.71417	0.990000	0.47175	0.571000	0.35966	2.309000	0.43699	1.296000	0.44742	-0.305000	0.09177	CAG		0.522	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		55	258	1	0	2.23044e-30	1	2.6157e-30	55	258				
PLXNB2	23654	broad.mit.edu	37	22	50719911	50719911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50719911G>A	ENST00000449103.1	-	22	3680	c.3540C>T	c.(3538-3540)cgC>cgT	p.R1180R	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.R1180R			O15031	PLXB2_HUMAN	plexin B2	1180					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACCCACTCGCGAGAGCCGA	0.687																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3538-3540)cgC>cgT		plexin B2							20.0	27.0	25.0					22																	50719911		2164	4250	6414	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719911G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3540C>T	22.37:g.50719911G>A						PLXNB2_ENST00000359337.4_Silent_p.R1180R	p.R1180R			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	22	3680	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1180					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3540C>T	CCDS43035.1																																																																																				0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		51	203	0	0	0	1	0	51	203				
HELZ	9931	broad.mit.edu	37	17	65083046	65083046	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65083046A>C	ENST00000358691.5	-	32	5559	c.5393T>G	c.(5392-5394)tTt>tGt	p.F1798C	HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1798						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CGGGGATGAAAAGTTGAAAGA	0.473																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5392-5394)tTt>tGt		helicase with zinc finger							148.0	155.0	153.0					17																	65083046		2031	4194	6225	SO:0001583	missense	9931							g.chr17:65083046A>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5393T>G	17.37:g.65083046A>C	ENSP00000351524:p.Phe1798Cys					HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	p.F1798C	NM_014877.3	NP_055692.2					32	5559	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5393T>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059441	0.36373	.	.	ENSG00000198265	ENST00000358691	D	0.84800	-1.9	5.7	4.59	0.56863	.	0.053448	0.85682	D	0.000000	T	0.75213	0.3819	N	0.14661	0.345	0.39299	D	0.964868	D;D	0.57257	0.979;0.979	P;P	0.46362	0.514;0.514	T	0.79391	-0.1823	10	0.87932	D	0	-17.7225	8.4921	0.33106	0.608:0.0:0.0:0.392	.	1799;1798	B7ZLW2;P42694	.;HELZ_HUMAN	C	1798	ENSP00000351524:F1798C	ENSP00000351524:F1798C	F	-	2	0	HELZ	62513508	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	4.895000	0.63214	2.166000	0.68216	0.528000	0.53228	TTT		0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		101	461	0	0	0	1	0	101	461				
MAPK8IP1	9479	broad.mit.edu	37	11	45924210	45924210	+	Missense_Mutation	SNP	G	G	A	rs141639373	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45924210G>A	ENST00000241014.2	+	5	1062	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.A288T	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	298	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCCACCTCCGCCTTCCTGCC	0.662													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14833	0.0		0.0	False		,,,				2504	0.0					ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(862-864)Gcc>Acc		mitogen-activated protein kinase 8 interacting protein 1		G	THR/ALA	2,4400		0,2,2199	20.0	24.0	22.0		892	1.5	0.6	11	dbSNP_134	22	1,8587		0,1,4293	yes	missense	MAPK8IP1	NM_005456.3	58	0,3,6492	AA,AG,GG		0.0116,0.0454,0.0231	benign	298/712	45924210	3,12987	2201	4294	6495	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924210G>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.892G>A	11.37:g.45924210G>A	ENSP00000241014:p.Ala298Thr					MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.A298T	p.A288T			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1192	+			298					D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.862G>A	CCDS7916.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.492	0.650899	0.14516	4.54E-4	1.16E-4	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.36157	1.27;1.27	4.58	1.52	0.23074	.	0.564273	0.19607	N	0.110250	T	0.13200	0.0320	N	0.12182	0.205	0.21064	N	0.999796	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.02654	T	1	-13.8899	2.9285	0.05792	0.1779:0.1808:0.5165:0.1248	.	298	Q9UQF2	JIP1_HUMAN	T	298;288	ENSP00000241014:A298T;ENSP00000378991:A288T	ENSP00000241014:A298T	A	+	1	0	MAPK8IP1	45880786	0.001000	0.12720	0.573000	0.28510	0.710000	0.40934	0.934000	0.28910	0.219000	0.20840	0.561000	0.74099	GCC		0.662	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		51	171	0	0	0	1	0	51	171				
MTMR4	9110	broad.mit.edu	37	17	56569901	56569901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56569901G>T	ENST00000323456.5	-	18	3505	c.3381C>A	c.(3379-3381)ttC>ttA	p.F1127L	MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1127					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCAACCAGAATTCACAGT	0.453																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(3379-3381)ttC>ttA		myotubularin related protein 4							228.0	223.0	225.0					17																	56569901		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56569901G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3381C>A	17.37:g.56569901G>T	ENSP00000325285:p.Phe1127Leu					MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	p.F1127L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			18	3505	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1127					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.3381C>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988516	0.93106	.	.	ENSG00000108389	ENST00000323456	D	0.84800	-1.9	5.82	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94135	0.8119	H	0.95328	3.655	0.41506	D	0.988312	D	0.76494	0.999	D	0.83275	0.996	D	0.94967	0.8113	10	0.87932	D	0	.	11.6908	0.51514	0.1039:0.0:0.8961:0.0	.	1127	Q9NYA4	MTMR4_HUMAN	L	1127	ENSP00000325285:F1127L	ENSP00000325285:F1127L	F	-	3	2	MTMR4	53924900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.353000	0.66034	1.213000	0.43380	0.655000	0.94253	TTC		0.453	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		212	880	1	0	1.85597e-80	1	2.37377e-80	212	880				
PDIA3	2923	broad.mit.edu	37	15	44057696	44057696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44057696C>T	ENST00000300289.5	+	6	799	c.651C>T	c.(649-651)gaC>gaT	p.D217D	PDIA3_ENST00000538521.1_Silent_p.D197D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	217				D -> Y (in Ref. 1; BAA03759). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGTTTGAGGACAAGACTGTGG	0.358																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(649-651)gaC>gaT		protein disulfide isomerase family A, member 3							119.0	119.0	119.0					15																	44057696		2198	4298	6496	SO:0001819	synonymous_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44057696C>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.651C>T	15.37:g.44057696C>T						PDIA3_ENST00000538521.1_Silent_p.D197D	p.D217D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	6	799	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	217	D -> Y (in Ref. 1; BAA03759).				Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	37	c.651C>T	CCDS10101.1																																																																																				0.358	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		18	707	0	0	0	1	0	18	707				
TMTC4	84899	broad.mit.edu	37	13	101288908	101288908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101288908C>T	ENST00000376234.3	-	9	1212	c.1023G>A	c.(1021-1023)atG>atA	p.M341I	TMTC4_ENST00000342624.5_Missense_Mutation_p.M360I|TMTC4_ENST00000328767.5_Missense_Mutation_p.M230I|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	341						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGATGCAGCCCATTGACCAAT	0.502																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1078-1080)atG>atA		transmembrane and tetratricopeptide repeat containing 4							136.0	128.0	131.0					13																	101288908		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101288908C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1023G>A	13.37:g.101288908C>T	ENSP00000365408:p.Met341Ile					TMTC4_ENST00000328767.5_Missense_Mutation_p.M230I|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.M341I	p.M360I	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			10	1338	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		341					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1080G>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229546	0.95173	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.53640	0.61;0.61;0.61	6.17	6.17	0.99709	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.91140	3.18	0.80722	D	1	P;D;D;P	0.63046	0.94;0.992;0.977;0.929	P;D;P;P	0.64144	0.897;0.922;0.893;0.614	T	0.79509	-0.1774	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	230;341;341;360	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	I	341;360;230	ENSP00000365408:M341I;ENSP00000343871:M360I;ENSP00000365409:M230I	ENSP00000365409:M230I	M	-	3	0	TMTC4	100086909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ATG		0.502	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		14	468	0	0	0	1	0	14	468				
ADAD1	132612	broad.mit.edu	37	4	123342523	123342523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123342523C>T	ENST00000296513.2	+	12	1780	c.1595C>T	c.(1594-1596)gCt>gTt	p.A532V	ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V|ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	532	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACTTGAAGCTGGTACATAT	0.338																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1594-1596)gCt>gTt		adenosine deaminase domain containing 1 (testis-specific)							73.0	71.0	72.0					4																	123342523		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123342523C>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1595C>T	4.37:g.123342523C>T	ENSP00000296513:p.Ala532Val					ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V|ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V	p.A532V	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			12	1780	+			532			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1595C>T	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338793	0.05243	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93547	-3.24;-3.24;-3.24	4.93	3.15	0.36227	Adenosine deaminase/editase (3);	0.353444	0.30859	N	0.008732	D	0.84620	0.5512	N	0.25485	0.75	0.28122	N	0.930573	B;B	0.25667	0.009;0.131	B;B	0.26310	0.022;0.068	T	0.69982	-0.4997	10	0.13853	T	0.58	-11.4565	5.6847	0.17797	0.1681:0.6553:0.0:0.1766	.	521;532	Q96M93-2;Q96M93	.;ADAD1_HUMAN	V	532;521;514	ENSP00000296513:A532V;ENSP00000373376:A521V;ENSP00000373377:A514V	ENSP00000296513:A532V	A	+	2	0	ADAD1	123561973	0.563000	0.26594	0.999000	0.59377	0.982000	0.71751	1.029000	0.30140	2.277000	0.76020	0.650000	0.86243	GCT		0.338	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		15	180	0	0	0	1	0	15	180				
CCDC134	79879	broad.mit.edu	37	22	42209411	42209411	+	Missense_Mutation	SNP	G	G	A	rs374001821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42209411G>A	ENST00000255784.5	+	5	558	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	152						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCAGACAGGCGTCTTCAACCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19150	0.0		0.0	False		,,,				2504	0.001					ENST00000255784.5																			0				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						c.(454-456)Gtc>Atc		coiled-coil domain containing 134		G	ILE/VAL	0,4406		0,0,2203	65.0	61.0	63.0		454	3.4	0.9	22		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC134	NM_024821.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	152/230	42209411	1,13005	2203	4300	6503	SO:0001583	missense	79879					extracellular region		g.chr22:42209411G>A	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.454G>A	22.37:g.42209411G>A	ENSP00000255784:p.Val152Ile					CCDC134_ENST00000402061.3_Intron	p.V152I	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN			5	558	+			152						Missense_Mutation	SNP	ENST00000255784.5	37	c.454G>A	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385119	0.25031	0.0	1.16E-4	ENSG00000100147	ENST00000255784	.	.	.	5.51	3.42	0.39159	.	0.184989	0.47852	N	0.000220	T	0.42494	0.1205	L	0.33485	1.01	0.44000	D	0.996703	B	0.21821	0.061	B	0.14578	0.011	T	0.33059	-0.9883	9	0.36615	T	0.2	-26.7955	9.1116	0.36732	0.2197:0.0:0.7803:0.0	.	152	Q9H6E4	CC134_HUMAN	I	152	.	ENSP00000255784:V152I	V	+	1	0	CCDC134	40539357	1.000000	0.71417	0.914000	0.36105	0.070000	0.16714	3.181000	0.50903	1.466000	0.48025	0.655000	0.94253	GTC		0.597	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		57	247	0	0	0	1	0	57	247				
ZNF644	84146	broad.mit.edu	37	1	91405757	91405757	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405757T>C	ENST00000370440.1	-	3	1371	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTAAGGTATTTGAAAGAAA	0.388																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1153-1155)aAt>aGt		zinc finger protein 644							101.0	102.0	101.0					1																	91405757		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405757T>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1154A>G	1.37:g.91405757T>C	ENSP00000359469:p.Asn385Ser					ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S	p.N385S			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1371	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	385					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1154A>G	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	9.350	1.065165	0.20067	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00585	6.39;6.39	5.58	4.45	0.53987	.	0.334787	0.35936	N	0.002883	T	0.00271	0.0008	L	0.32530	0.975	0.43652	D	0.996066	B	0.10296	0.003	B	0.08055	0.003	T	0.59521	-0.7439	10	0.33141	T	0.24	-6.1922	11.4023	0.49876	0.0:0.0706:0.0:0.9294	.	385	Q9H582	ZN644_HUMAN	S	385	ENSP00000359469:N385S;ENSP00000337008:N385S	ENSP00000337008:N385S	N	-	2	0	ZNF644	91178345	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.106000	0.41835	0.958000	0.37956	0.533000	0.62120	AAT		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		129	432	0	0	0	1	0	129	432				
ITIH2	3698	broad.mit.edu	37	10	7786082	7786082	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7786082G>T	ENST00000358415.4	+	18	2413	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	ITIH2_ENST00000379587.4_Missense_Mutation_p.K738N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	749					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGCCAAGAAGCCCAACAATG	0.383																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2245-2247)aaG>aaT		inter-alpha-trypsin inhibitor heavy chain 2							78.0	79.0	79.0					10																	7786082		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786082G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2247G>T	10.37:g.7786082G>T	ENSP00000351190:p.Lys749Asn					ITIH2_ENST00000379587.4_Missense_Mutation_p.K738N	p.K749N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			18	2413	+			749					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2247G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381513	0.61845	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.12984	2.63;2.63	5.43	3.58	0.41010	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.239649	0.41396	D	0.000883	T	0.29288	0.0729	M	0.76838	2.35	0.32661	N	0.518123	P	0.45986	0.87	P	0.55785	0.784	T	0.36016	-0.9765	10	0.36615	T	0.2	-16.9467	10.0692	0.42322	0.2721:0.0:0.7279:0.0	.	749	P19823	ITIH2_HUMAN	N	749;738	ENSP00000351190:K749N;ENSP00000368906:K738N	ENSP00000351190:K749N	K	+	3	2	ITIH2	7826088	0.993000	0.37304	0.883000	0.34634	0.939000	0.58152	1.666000	0.37460	0.662000	0.31006	0.655000	0.94253	AAG		0.383	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		42	158	1	0	1.49673e-21	1	1.68722e-21	42	158				
DMRTA2	63950	broad.mit.edu	37	1	50885223	50885223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885223G>T	ENST00000404795.3	-	3	1135	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	248	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						GGGCGAACCAGAAAAGGACTC	0.721																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(742-744)tCt>tAt		DMRT-like family A2							6.0	8.0	7.0					1																	50885223		1837	4020	5857	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50885223G>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.743C>A	1.37:g.50885223G>T	ENSP00000383909:p.Ser248Tyr					DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	p.S248Y	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1135	-			248			Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.743C>A	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787807	0.31593	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.76	2.84	0.33178	.	0.678240	0.13285	N	0.399480	T	0.19287	0.0463	N	0.22421	0.69	0.30662	N	0.75429	P	0.46020	0.871	B	0.37304	0.246	T	0.09618	-1.0666	10	0.45353	T	0.12	-9.2124	4.3626	0.11210	0.3172:0.0:0.6828:0.0	.	248	Q96SC8	DMTA2_HUMAN	Y	248	ENSP00000383909:S248Y;ENSP00000399370:S248Y	ENSP00000383909:S248Y	S	-	2	0	DMRTA2	50657810	0.999000	0.42202	0.995000	0.50966	0.353000	0.29299	4.988000	0.63863	2.078000	0.62432	0.462000	0.41574	TCT		0.721	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		13	81	1	0	4.36969e-10	1	4.6211e-10	13	81				
FILIP1	27145	broad.mit.edu	37	6	76072528	76072528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76072528G>A	ENST00000237172.7	-	3	712	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000609544.1_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.H128Y|RP11-415D17.3_ENST00000415457.2_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	128								p.H128N(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCATCTCGGTGCAGGACCCGC	0.493																																						ENST00000393004.2																			1	Substitution - Missense(1)	p.H128N(1)	upper_aerodigestive_tract(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(382-384)Cac>Tac		filamin A interacting protein 1							118.0	118.0	118.0					6																	76072528		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76072528G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.382C>T	6.37:g.76072528G>A	ENSP00000237172:p.His128Tyr					RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000591821.1_RNA|RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000237172.7_Missense_Mutation_p.H128Y|RP11-415D17.3_ENST00000588761.1_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000419709.1_RNA	p.H128Y			Q7Z7B0	FLIP1_HUMAN			3	603	-			128					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.382C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049184	0.93740	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.43688	0.94;0.94;0.94	5.99	5.99	0.97316	Cortactin-binding protein-2, N-terminal (1);	0.051098	0.85682	D	0.000000	T	0.36276	0.0961	N	0.22421	0.69	0.80722	D	1	D;P;P	0.59767	0.986;0.941;0.927	P;P;P	0.53006	0.715;0.592;0.561	T	0.14531	-1.0469	10	0.54805	T	0.06	-19.3947	20.4777	0.99188	0.0:0.0:1.0:0.0	.	128;128;128	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	128;128;29	ENSP00000376728:H128Y;ENSP00000237172:H128Y;ENSP00000359037:H29Y	ENSP00000237172:H128Y	H	-	1	0	FILIP1	76129248	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.993000	0.88291	2.840000	0.97914	0.655000	0.94253	CAC		0.493	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		82	440	0	0	0	1	0	82	440				
ZNF429	353088	broad.mit.edu	37	19	21720670	21720670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21720670C>T	ENST00000358491.4	+	4	2023	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAATCGGTCCTCAAGACTTA	0.373																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1813-1815)tcC>tcT		zinc finger protein 429							58.0	63.0	61.0					19																	21720670		2082	4255	6337	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720670C>T	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1815C>T	19.37:g.21720670C>T						ZNF429_ENST00000597078.1_Intron	p.S605S	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	2023	+			605					A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.1815C>T	CCDS42537.1																																																																																				0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		75	253	0	0	0	1	0	75	253				
EPHA1	2041	broad.mit.edu	37	7	143091949	143091949	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143091949A>G	ENST00000275815.3	-	14	2390	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAGTCAGGCCAAAGTCAGACA	0.512																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2302-2304)ttT>ttC		EPH receptor A1							127.0	116.0	120.0					7																	143091949		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143091949A>G	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2304T>C	7.37:g.143091949A>G							p.F768F	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			14	2390	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	768			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.2304T>C	CCDS5884.1																																																																																				0.512	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			48	253	0	0	0	1	0	48	253				
PAX5	5079	broad.mit.edu	37	9	37002672	37002672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37002672C>T	ENST00000358127.4	-	5	651	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|PAX5_ENST00000522003.1_Missense_Mutation_p.D85N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000414447.1_Intron|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	193					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(40)|p.D193>GGTRAN(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTGTTGGTGTCGGCGCTGGGG	0.682			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	41	Unknown(40)|Complex - insertion inframe(1)	p.?(40)|p.D193>GGTRAN(1)	haematopoietic_and_lymphoid_tissue(41)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(577-579)Gac>Aac		paired box 5							44.0	36.0	38.0					9																	37002672		2201	4298	6499	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37002672C>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.577G>A	9.37:g.37002672C>T	ENSP00000350844:p.Asp193Asn					PAX5_ENST00000522003.1_Missense_Mutation_p.D85N|PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|PAX5_ENST00000414447.1_Intron	p.D193N	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	5	651	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	193					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.577G>A	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352389	0.61293	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000377847;ENST00000524340	D;D;D;D;D;D;D;D;D;T	0.97731	-4.02;-4.01;-4.01;-4.51;-4.5;-3.68;-1.78;-2.34;-4.5;1.27	5.15	4.24	0.50183	.	0.522583	0.21064	N	0.080764	D	0.90494	0.7022	N	0.11313	0.125	0.49582	D	0.999801	P;P;B;B;B;P;B	0.44309	0.832;0.825;0.001;0.091;0.185;0.725;0.327	B;B;B;B;B;B;B	0.32393	0.145;0.091;0.002;0.009;0.011;0.051;0.034	D	0.90866	0.4742	10	0.02654	T	1	.	15.2869	0.73835	0.1415:0.8585:0.0:0.0	.	127;193;193;193;193;193;193	C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;PAX5_HUMAN	N	193;85;193;193;193;193;127;85;85;193;1	ENSP00000350844:D193N;ENSP00000367084:D193N;ENSP00000367083:D193N;ENSP00000429637:D193N;ENSP00000429291:D193N;ENSP00000404687:D127N;ENSP00000429359:D85N;ENSP00000429197:D85N;ENSP00000367078:D193N;ENSP00000429404:D1N	ENSP00000350844:D193N	D	-	1	0	PAX5	36992672	1.000000	0.71417	0.993000	0.49108	0.187000	0.23431	5.203000	0.65174	1.274000	0.44362	-0.324000	0.08512	GAC		0.682	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			10	84	0	0	0	1	0	10	84				
CBLC	23624	broad.mit.edu	37	19	45287578	45287578	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45287578C>T	ENST00000270279.3	+	5	900	c.837C>T	c.(835-837)agC>agT	p.S279S	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	279	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTATGTGAGCTCAGATGGCA	0.597			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(835-837)agC>agT		Cbl proto-oncogene C, E3 ubiquitin protein ligase							129.0	85.0	100.0					19																	45287578		2203	4300	6503	SO:0001819	synonymous_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45287578C>T	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.837C>T	19.37:g.45287578C>T			OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	CBLC_ENST00000341505.4_Intron	p.S279S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			5	900	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	279			Cbl-PTB.|SH2-like.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	c.837C>T	CCDS12643.1																																																																																				0.597	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		13	283	0	0	0	1	0	13	283				
GLT1D1	144423	broad.mit.edu	37	12	129360481	129360481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129360481C>T	ENST00000442111.2	+	2	179	c.91C>T	c.(91-93)Cac>Tac	p.H31Y	GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	31					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTGCAGGGCACGTGTGCGT	0.463																																						ENST00000442111.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(91-93)Cac>Tac		glycosyltransferase 1 domain containing 1							137.0	141.0	140.0					12																	129360481		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360481C>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.91C>T	12.37:g.129360481C>T	ENSP00000394692:p.His31Tyr					GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y|GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000542193.1_5'UTR	p.H31Y			Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	179	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		31					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.91C>T		.	.	.	.	.	.	.	.	.	.	C	17.16	3.319101	0.60524	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.49720	0.77;0.77;0.8	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.987;0.994	T	0.71424	-0.4597	10	0.51188	T	0.08	-28.2328	17.2721	0.87105	0.0:1.0:0.0:0.0	.	20;31	F5H088;Q96MS3-2	.;.	Y	31;31;20	ENSP00000394692:H31Y;ENSP00000281703:H31Y;ENSP00000438158:H20Y	ENSP00000281703:H31Y	H	+	1	0	GLT1D1	127926434	0.983000	0.35010	0.236000	0.24074	0.492000	0.33523	4.528000	0.60580	2.583000	0.87209	0.655000	0.94253	CAC		0.463	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		130	642	0	0	0	1	0	130	642				
PTPN3	5774	broad.mit.edu	37	9	112216845	112216845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112216845G>A	ENST00000374541.2	-	5	403	c.299C>T	c.(298-300)cCc>cTc	p.P100L	PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	100	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGGTACAGGGGAAACCTCC	0.333																																						ENST00000374541.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(298-300)cCc>cTc		protein tyrosine phosphatase, non-receptor type 3							114.0	119.0	118.0					9																	112216845		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112216845G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.299C>T	9.37:g.112216845G>A	ENSP00000363667:p.Pro100Leu					PTPN3_ENST00000262539.3_Intron	p.P100L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN			5	403	-			100			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.299C>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551656	0.86127	.	.	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.78595	-1.19	5.67	5.67	0.87782	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	M	0.91510	3.215	0.80722	D	1	P;D	0.76494	0.775;0.999	P;D	0.77557	0.665;0.99	D	0.92260	0.5816	10	0.72032	D	0.01	.	19.3642	0.94454	0.0:0.0:1.0:0.0	.	100;100	B7Z9V1;P26045	.;PTN3_HUMAN	L	100	ENSP00000363667:P100L	ENSP00000363667:P100L	P	-	2	0	PTPN3	111256666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.689000	0.91719	0.462000	0.41574	CCC		0.333	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			16	471	0	0	0	1	0	16	471				
EPAS1	2034	broad.mit.edu	37	2	46605085	46605085	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605085G>A	ENST00000263734.3	+	10	1812	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	434					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTGCCCCCGAGCCAGCCAT	0.662																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1300-1302)ccG>ccA		endothelial PAS domain protein 1							21.0	19.0	20.0					2																	46605085		2165	4263	6428	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46605085G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1302G>A	2.37:g.46605085G>A							p.P434P	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		10	1812	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	434					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.1302G>A	CCDS1825.1																																																																																				0.662	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		8	18	0	0	0	1	0	8	18				
TMEM106C	79022	broad.mit.edu	37	12	48359923	48359923	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48359923C>A	ENST00000429772.2	+	5	576	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M|TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L84M|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	155						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AGTGACCAGCCTGTCCAGCCA	0.507																																						ENST00000429772.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14						c.(463-465)Ctg>Atg		transmembrane protein 106C							110.0	93.0	99.0					12																	48359923		2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48359923C>A	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.463C>A	12.37:g.48359923C>A	ENSP00000400471:p.Leu155Met					TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L84M|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M	p.L155M	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	5	576	+		Acute lymphoblastic leukemia(13;0.11)	155					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.463C>A	CCDS8758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.01|12.01	1.808750|1.808750	0.31961|0.31961	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000546749;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640|ENST00000547682	T;T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	4.68|4.68	2.85|2.85	0.33270|0.33270	.|.	0.083089|.	0.49305|.	D|.	0.000153|.	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.59436|0.59436	1.845|1.845	0.42755|0.42755	D|D	0.993789|0.993789	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.72338|.	0.977;0.962|.	T|T	0.64786|0.64786	-0.6325|-0.6325	10|5	0.49607|.	T|.	0.09|.	-0.3909|-0.3909	13.7439|13.7439	0.62863|0.62863	0.0:0.8537:0.0:0.1463|0.0:0.8537:0.0:0.1463	.|.	155;155|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	M|H	155;155;19;84;155;155;155;84|41	ENSP00000256686:L155M;ENSP00000446657:L155M;ENSP00000446622:L19M;ENSP00000448268:L84M;ENSP00000449737:L155M;ENSP00000400471:L155M;ENSP00000402705:L155M;ENSP00000447254:L84M|.	ENSP00000256686:L155M|.	L|P	+|+	1|2	2|0	TMEM106C|TMEM106C	46646190|46646190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	0.709000|0.709000	0.25734|0.25734	0.466000|0.466000	0.27193|0.27193	-0.797000|-0.797000	0.03246|0.03246	CTG|CCT		0.507	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		16	291	1	0	3.52763e-06	1	3.62938e-06	16	291				
RNF24	11237	broad.mit.edu	37	20	3914846	3914846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3914846C>T	ENST00000336095.6	-	6	562	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	RNF24_ENST00000545616.2_Missense_Mutation_p.C125Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	104						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTAATAAGGCACCTGCAGAA	0.542																																						ENST00000336095.5																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(310-312)tGc>tAc		ring finger protein 24							61.0	56.0	58.0					20																	3914846		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3914846C>T	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.311G>A	20.37:g.3914846C>T	ENSP00000336753:p.Cys104Tyr					RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y|RNF24_ENST00000545616.1_Missense_Mutation_p.C125Y	p.C104Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN			6	562	-			104					D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	c.311G>A	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500288	0.85176	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.79108	0.992;0.99	D	0.96787	0.9579	10	0.87932	D	0	-10.1893	17.5288	0.87808	0.0:1.0:0.0:0.0	.	125;104	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	Y	104;104;125;125	ENSP00000336753:C104Y;ENSP00000351166:C104Y;ENSP00000444711:C125Y;ENSP00000388550:C125Y	ENSP00000336753:C104Y	C	-	2	0	RNF24	3862846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.057000	0.76669	2.735000	0.93741	0.591000	0.81541	TGC		0.542	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2			58	264	0	0	0	1	0	58	264				
KIAA2013	90231	broad.mit.edu	37	1	11980383	11980383	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11980383G>T	ENST00000376572.3	-	3	2079	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T		NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	632						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACACTGGGATCTTCCTGT	0.502																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(1894-1896)Ccc>Acc		KIAA2013							177.0	156.0	163.0					1																	11980383		2203	4300	6503	SO:0001583	missense	90231					integral to membrane		g.chr1:11980383G>T	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1894C>A	1.37:g.11980383G>T	ENSP00000365756:p.Pro632Thr						p.P632T	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	2079	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	632					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.1894C>A	CCDS141.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879388	0.33162	.	.	ENSG00000116685	ENST00000376572	.	.	.	5.64	4.72	0.59763	.	.	.	.	.	T	0.35451	0.0932	N	0.08118	0	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.32798	-0.9893	8	0.45353	T	0.12	.	14.0044	0.64453	0.0:0.1512:0.8488:0.0	.	632	Q8IYS2	K2013_HUMAN	T	632	.	ENSP00000365756:P632T	P	-	1	0	KIAA2013	11902970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.176000	0.58269	1.363000	0.46019	0.655000	0.94253	CCC		0.502	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		57	542	1	0	1.95512e-22	1	2.21276e-22	57	542				
SLC12A6	9990	broad.mit.edu	37	15	34532995	34532995	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34532995T>C	ENST00000354181.3	-	19	2795	c.2303A>G	c.(2302-2304)gAc>gGc	p.D768G	SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	768					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACATGTAAGTCTTCATCTAG	0.488																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2302-2304)gAc>gGc		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						96.0	77.0	83.0					15																	34532995		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34532995T>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2303A>G	15.37:g.34532995T>C	ENSP00000346112:p.Asp768Gly					SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G	p.D768G			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	19	2795	-		all_lung(180;2.78e-08)	768					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2303A>G	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298737	0.60195	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.79475	2.455	0.58432	D	0.999999	B;P;P;P	0.42584	0.367;0.76;0.784;0.588	B;B;B;B	0.44224	0.059;0.416;0.444;0.206	D	0.93407	0.6765	10	0.66056	D	0.02	.	13.793	0.63152	0.0:0.0:0.0:1.0	.	753;768;717;580	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	G	717;753;759;709;709;580	ENSP00000290209:D717G;ENSP00000380819:D753G;ENSP00000380814:D709G;ENSP00000387725:D709G;ENSP00000390199:D580G	ENSP00000290209:D717G	D	-	2	0	SLC12A6	32320287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.127000	0.71642	2.086000	0.62901	0.482000	0.46254	GAC		0.488	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		35	138	0	0	0	1	0	35	138				
DLD	1738	broad.mit.edu	37	7	107556055	107556055	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107556055C>T	ENST00000205402.5	+	9	1070	c.789C>T	c.(787-789)cgC>cgT	p.R263R	DLD_ENST00000537148.1_Silent_p.R164R|DLD_ENST00000437604.2_Silent_p.R215R|DLD_ENST00000440410.1_Silent_p.R240R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	263					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	ACTTTCAACGCATCCTTCAAA	0.358																																						ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(787-789)cgC>cgT		dihydrolipoamide dehydrogenase	NADH(DB00157)						97.0	97.0	97.0					7																	107556055		2203	4300	6503	SO:0001819	synonymous_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107556055C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.789C>T	7.37:g.107556055C>T						DLD_ENST00000437604.2_Silent_p.R215R|DLD_ENST00000537148.1_Silent_p.R164R|DLD_ENST00000440410.1_Silent_p.R240R	p.R263R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			9	1070	+			263					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Silent	SNP	ENST00000205402.5	37	c.789C>T	CCDS5749.1																																																																																				0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		7	419	0	0	0	1	0	7	419				
G3BP1	10146	broad.mit.edu	37	5	151183461	151183461	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151183461G>T	ENST00000394123.3	+	12	1355	c.1210G>T	c.(1210-1212)Ggt>Tgt	p.G404C	G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C|G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	404	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CATGTTCAGAGGTGAGGTCCG	0.502																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(1210-1212)Ggt>Tgt		GTPase activating protein (SH3 domain) binding protein 1							67.0	67.0	67.0					5																	151183461		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151183461G>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1210G>T	5.37:g.151183461G>T	ENSP00000377681:p.Gly404Cys					G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C|G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C	p.G404C			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	1355	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	404			RRM.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.1210G>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223942	0.58668	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.80304	-1.24;-1.36;-1.24	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.046297	0.85682	D	0.000000	T	0.80884	0.4709	L	0.60455	1.87	0.80722	D	1	P	0.38420	0.63	B	0.38616	0.277	T	0.82744	-0.0306	10	0.87932	D	0	0.4932	19.7859	0.96437	0.0:0.0:1.0:0.0	.	404	Q13283	G3BP1_HUMAN	C	404;222;404;246	ENSP00000377681:G404C;ENSP00000445035:G222C;ENSP00000348578:G404C	ENSP00000274596:G246C	G	+	1	0	G3BP1	151163654	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.018000	0.93657	2.746000	0.94184	0.655000	0.94253	GGT		0.502	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		29	399	1	0	3.57733e-08	1	3.7302e-08	29	399				
ESPNL	339768	broad.mit.edu	37	2	239016582	239016582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239016582C>T	ENST00000343063.3	+	4	1086	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	275										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGACCCCCCTCCACGACGC	0.642																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(823-825)Ctc>Ttc		espin-like							37.0	34.0	35.0					2																	239016582		2199	4300	6499	SO:0001583	missense	339768							g.chr2:239016582C>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.823C>T	2.37:g.239016582C>T	ENSP00000339115:p.Leu275Phe					ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	p.L275F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	4	1086	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	275					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.823C>T	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388675	0.82902	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;D	0.81996	-1.3;-1.56	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.49916	U	0.000140	D	0.90933	0.7150	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.91720	0.5388	10	0.72032	D	0.01	-31.9858	16.3304	0.83010	0.0:1.0:0.0:0.0	.	275;275	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	F	275	ENSP00000339115:L275F;ENSP00000386577:L275F	ENSP00000339115:L275F	L	+	1	0	ESPNL	238681321	1.000000	0.71417	0.317000	0.25265	0.941000	0.58515	5.079000	0.64431	2.580000	0.87095	0.655000	0.94253	CTC		0.642	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		41	123	0	0	0	1	0	41	123				
C16orf46	123775	broad.mit.edu	37	16	81097352	81097352	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81097352G>A	ENST00000299578.5	-	3	444	c.209C>T	c.(208-210)gCa>gTa	p.A70V	C16orf46_ENST00000378611.4_Splice_Site_p.A70V|C16orf46_ENST00000444657.3_Intron|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	70						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATACTCACTGCCTCTTCCCA	0.368																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.e2+1		chromosome 16 open reading frame 46							144.0	135.0	138.0					16																	81097352		2202	4300	6502	SO:0001630	splice_region_variant	123775							g.chr16:81097352G>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.210+1C>T	16.37:g.81097352G>A						RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000299578.5_Splice_Site_p.A70_splice	p.A70_splice	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			2	324	-			70					Q96MA7	Splice_Site	SNP	ENST00000299578.5	37	c.210_splice	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724517	0.68959	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.27890	1.64;1.64	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.47655	0.1457	L	0.36672	1.1	0.45403	D	0.998388	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41034	-0.9531	10	0.87932	D	0	.	16.9976	0.86372	0.0:0.0:1.0:0.0	.	70;70	Q6P387-2;Q6P387	.;CP046_HUMAN	V	70	ENSP00000367874:A70V;ENSP00000299578:A70V	ENSP00000299578:A70V	A	-	2	0	C16orf46	79654853	1.000000	0.71417	0.999000	0.59377	0.234000	0.25298	5.178000	0.65037	2.822000	0.97130	0.563000	0.77884	GCA		0.368	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337	Missense_Mutation	109	308	0	0	0	1	0	109	308				
PORCN	64840	broad.mit.edu	37	X	48370880	48370880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48370880C>T	ENST00000326194.6	+	4	583	c.540C>T	c.(538-540)gtC>gtT	p.V180V	PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V|PORCN_ENST00000367574.4_Silent_p.V109V|PORCN_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	180					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAAGCTGTCCAAGGCCGCC	0.612																																						ENST00000367574.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(325-327)gtC>gtT		porcupine homolog (Drosophila)							46.0	35.0	39.0					X																	48370880		2203	4299	6502	SO:0001819	synonymous_variant	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48370880C>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.540C>T	X.37:g.48370880C>T						PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000326194.6_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V	p.V109V			Q9H237	PORCN_HUMAN			5	832	+			180					B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	ENST00000326194.6	37	c.327C>T	CCDS14299.1																																																																																				0.612	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		19	59	0	0	0	1	0	19	59				
GNB1	2782	broad.mit.edu	37	1	1718817	1718817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1718817C>T	ENST00000378609.4	-	11	1307	c.976G>A	c.(976-978)Gct>Act	p.A326T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	326					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCGCCACAGCCATGCCATCG	0.572																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(976-978)Gct>Act		guanine nucleotide binding protein (G protein), beta polypeptide 1							115.0	101.0	106.0					1																	1718817		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1718817C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.976G>A	1.37:g.1718817C>T	ENSP00000367872:p.Ala326Thr						p.A326T	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	11	1307	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	326					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.976G>A	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.051123|6.051123	0.97236|0.97236	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.59224|.	0.28|.	5.74|5.74	5.74|5.74	0.90152|0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.100656|.	0.64402|.	D|.	0.000003|.	T|.	0.57169|.	0.2035|.	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|.	0.50056|.	-0.8872|.	10|.	0.31617|.	T|.	0.26|.	-16.5478|-16.5478	18.9108|18.9108	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326|.	P62873|.	GBB1_HUMAN|.	T|X	326;226;326|183	ENSP00000367872:A326T|.	ENSP00000367869:A326T|.	A|W	-|-	1|3	0|0	GNB1|GNB1	1708677|1708677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.600000|7.600000	0.82769|0.82769	2.720000|2.720000	0.93068|0.93068	0.561000|0.561000	0.74099|0.74099	GCT|TGG		0.572	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		40	408	0	0	0	1	0	40	408				
ASH1L	55870	broad.mit.edu	37	1	155348095	155348095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155348095G>A	ENST00000368346.3	-	10	6963	c.6324C>T	c.(6322-6324)ggC>ggT	p.G2108G	ASH1L_ENST00000392403.3_Silent_p.G2103G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2108	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.|Catalytic domain.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATCAACACAGCCCTTCCTGG	0.423																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(6322-6324)ggC>ggT		ash1 (absent, small, or homeotic)-like (Drosophila)							219.0	212.0	214.0					1																	155348095		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155348095G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6324C>T	1.37:g.155348095G>A						ASH1L_ENST00000392403.3_Silent_p.G2103G	p.G2108G			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		10	6963	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2108			AWS.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.6324C>T																																																																																					0.423	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		234	785	0	0	0	1	0	234	785				
MYO3A	53904	broad.mit.edu	37	10	26305807	26305807	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26305807G>A	ENST00000265944.5	+	7	733	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGAACACCGTTTTGGATGG	0.448																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(565-567)ccG>ccA		myosin IIIA							113.0	106.0	109.0					10																	26305807		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26305807G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.567G>A	10.37:g.26305807G>A						MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P	p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			7	733	+			189			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.567G>A	CCDS7148.1																																																																																				0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		56	290	0	0	0	1	0	56	290				
RANBP2	5903	broad.mit.edu	37	2	109352168	109352168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109352168G>T	ENST00000283195.6	+	5	712	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	196					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGGAACATAGCTTTGCGTTC	0.433																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(586-588)Gct>Tct		RAN binding protein 2							225.0	257.0	245.0					2																	109352168		1355	2296	3651	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109352168G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.586G>T	2.37:g.109352168G>T	ENSP00000283195:p.Ala196Ser						p.A196S	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			5	712	+			196					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.586G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974458	0.53720	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	5.0	5.0	0.66597	.	.	.	.	.	T	0.30262	0.0759	M	0.61703	1.905	0.23661	N	0.997177	B	0.21381	0.055	B	0.18561	0.022	T	0.12656	-1.0539	9	0.21014	T	0.42	-13.8792	10.8541	0.46789	0.0:0.1481:0.7165:0.1353	.	196	P49792	RBP2_HUMAN	S	196	ENSP00000283195:A196S	ENSP00000283195:A196S	A	+	1	0	RANBP2	108718600	0.001000	0.12720	0.925000	0.36789	0.967000	0.64934	0.027000	0.13621	2.498000	0.84270	0.455000	0.32223	GCT		0.433	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		460	1215	1	0	1.39281e-119	1	1.79332e-119	460	1215				
XIRP2	129446	broad.mit.edu	37	2	168102034	168102034	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102034G>T	ENST00000409195.1	+	9	4221	c.4132G>T	c.(4132-4134)Gac>Tac	p.D1378Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1203					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACACAAGAAGACATTCAGAA	0.363																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4132-4134)Gac>Tac		xin actin-binding repeat containing 2							70.0	65.0	66.0					2																	168102034		1841	4087	5928	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102034G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4132G>T	2.37:g.168102034G>T	ENSP00000386840:p.Asp1378Tyr					XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.D1378Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4221	+			1203					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4132G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816694	0.90790	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.06608	3.29;3.29;3.28	5.78	5.78	0.91487	.	0.105878	0.64402	D	0.000006	T	0.30103	0.0754	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.00984	-1.1491	10	0.87932	D	0	-17.2332	19.6068	0.95584	0.0:0.0:1.0:0.0	.	1203;1203;1156	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1378;1378;1156	ENSP00000386840:D1378Y;ENSP00000295237:D1378Y;ENSP00000387255:D1156Y	ENSP00000295237:D1378Y	D	+	1	0	XIRP2	167810280	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.652000	0.83633	2.744000	0.94065	0.563000	0.77884	GAC		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		61	323	1	0	1.82294e-38	1	2.19748e-38	61	323				
REV3L	5980	broad.mit.edu	37	6	111678315	111678315	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111678315C>T	ENST00000358835.3	-	19	7540	c.7086G>A	c.(7084-7086)caG>caA	p.Q2362Q	REV3L_ENST00000368802.3_Silent_p.Q2362Q|REV3L_ENST00000368805.1_Silent_p.Q2362Q|REV3L_ENST00000435970.1_Silent_p.Q2284Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2362					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTAATGGAGTCTGATATCTGA	0.269								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(6850-6852)caG>caA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							64.0	69.0	67.0					6																	111678315		2203	4298	6501	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111678315C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7086G>A	6.37:g.111678315C>T						REV3L_ENST00000368805.1_Silent_p.Q2362Q|REV3L_ENST00000358835.3_Silent_p.Q2362Q|REV3L_ENST00000368802.3_Silent_p.Q2362Q	p.Q2284Q			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	20	7668	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2362					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.6852G>A	CCDS5091.2																																																																																				0.269	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		63	307	0	0	0	1	0	63	307				
VPS13A	23230	broad.mit.edu	37	9	79933430	79933430	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79933430C>T	ENST00000360280.3	+	41	5496	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	VPS13A_ENST00000376636.3_Silent_p.L1707L|VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Silent_p.L1746L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1746					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						ACCTATGCTTCTGGCAAAGTC	0.378																																						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.(5236-5238)Ctg>Ttg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							68.0	70.0	70.0					9																	79933430		2203	4299	6502	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79933430C>T	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.5236C>T	9.37:g.79933430C>T						VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Silent_p.L1707L|VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000357409.5_Silent_p.L1746L	p.L1746L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			41	5496	+			1746					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.5236C>T	CCDS6655.1																																																																																				0.378	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		35	410	0	0	0	1	0	35	410				
HMX2	3167	broad.mit.edu	37	10	124909094	124909094	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124909094A>G	ENST00000339992.3	+	2	534	c.277A>G	c.(277-279)Aag>Gag	p.K93E		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	93					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGTACCCCCAAGGGCAGCGG	0.642																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(277-279)Aag>Gag		H6 family homeobox 2							25.0	34.0	31.0					10																	124909094		2116	4235	6351	SO:0001583	missense	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909094A>G		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.277A>G	10.37:g.124909094A>G	ENSP00000341108:p.Lys93Glu						p.K93E	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	534	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	93					B2RNV5	Missense_Mutation	SNP	ENST00000339992.3	37	c.277A>G	CCDS31305.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738077	0.49045	.	.	ENSG00000188816	ENST00000339992	D	0.89939	-2.59	4.79	4.79	0.61399	.	0.175281	0.48767	D	0.000163	T	0.77491	0.4138	L	0.27053	0.805	0.43857	D	0.996451	B	0.12013	0.005	B	0.09377	0.004	T	0.67995	-0.5526	10	0.05721	T	0.95	.	8.4983	0.33141	0.913:0.0:0.087:0.0	.	93	A2RU54	HMX2_HUMAN	E	93	ENSP00000341108:K93E	ENSP00000341108:K93E	K	+	1	0	HMX2	124899084	0.997000	0.39634	1.000000	0.80357	0.947000	0.59692	3.684000	0.54671	2.004000	0.58718	0.533000	0.62120	AAG		0.642	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		82	348	0	0	0	1	0	82	348				
DHX9	1660	broad.mit.edu	37	1	182852411	182852411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182852411C>T	ENST00000367549.3	+	25	3162	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1018					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CACTGAAGGGCGTAATGCACT	0.393																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3052-3054)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box helicase 9							140.0	119.0	125.0					1																	182852411		1905	4124	6029	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182852411C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3052C>T	1.37:g.182852411C>T	ENSP00000356520:p.Arg1018Cys					DHX9_ENST00000485081.1_3'UTR	p.R1018C	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			25	3162	+			1018					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3052C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265194	0.80358	.	.	ENSG00000135829	ENST00000367549	T	0.61742	0.08	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64877	0.93;0.93	T	0.78529	-0.2169	10	0.72032	D	0.01	.	14.0387	0.64660	0.151:0.849:0.0:0.0	.	297;1018	B3KU66;Q08211	.;DHX9_HUMAN	C	1018	ENSP00000356520:R1018C	ENSP00000356520:R1018C	R	+	1	0	DHX9	181119034	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	4.228000	0.58619	2.501000	0.84356	0.650000	0.86243	CGT		0.393	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		71	317	0	0	0	1	0	71	317				
PPM1E	22843	broad.mit.edu	37	17	56833506	56833506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56833506G>A	ENST00000308249.2	+	1	277	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			gcccgagcccgaacctgaacT	0.706																																						ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(148-150)Gaa>Aaa		protein phosphatase, Mg2+/Mn2+ dependent, 1E							14.0	16.0	15.0					17																	56833506		2179	4263	6442	SO:0001583	missense	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833506G>A	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.148G>A	17.37:g.56833506G>A	ENSP00000312411:p.Glu50Lys						p.E50K	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	277	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		50			11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	c.148G>A	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595250	0.46318	.	.	ENSG00000175175	ENST00000308249	T	0.24350	1.86	4.15	3.08	0.35506	.	1.475580	0.05101	U	0.487086	T	0.14056	0.0340	N	0.14661	0.345	0.21020	N	0.999802	P	0.37398	0.593	B	0.25884	0.064	T	0.08310	-1.0728	10	0.32370	T	0.25	.	9.2831	0.37740	0.0:0.221:0.7789:0.0	.	50	Q8WY54-2	.	K	50	ENSP00000312411:E50K	ENSP00000312411:E50K	E	+	1	0	PPM1E	54188505	0.968000	0.33430	0.992000	0.48379	0.210000	0.24377	2.666000	0.46799	2.017000	0.59298	0.462000	0.41574	GAA		0.706	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		14	50	0	0	0	1	0	14	50				
DEPDC1	55635	broad.mit.edu	37	1	68954087	68954087	+	Missense_Mutation	SNP	G	G	A	rs369570198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:68954087G>A	ENST00000456315.2	-	5	805	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	231					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACTACTCCACGTTTACTTGTA	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14955	0.0		0.0	False		,,,				2504	0.0					ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(691-693)Cgt>Tgt		DEP domain containing 1		G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	150.0	140.0	143.0		691,691	5.3	1.0	1		143	0,8598		0,0,4299	no	missense,missense	DEPDC1	NM_001114120.1,NM_017779.4	180,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	231/812,231/528	68954087	1,12999	2201	4299	6500	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68954087G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.691C>T	1.37:g.68954087G>A	ENSP00000412292:p.Arg231Cys					DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	p.R231C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	5	805	-			231					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.691C>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467382	0.43839	2.27E-4	0.0	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964;ENST00000525124	T;T;T	0.18174	2.23;2.23;2.23	5.34	5.34	0.76211	Rho GTPase activation protein (1);	0.133715	0.64402	D	0.000002	T	0.07908	0.0198	N	0.14661	0.345	0.38425	D	0.946294	P;P	0.52842	0.837;0.956	B;B	0.42882	0.326;0.401	T	0.09164	-1.0687	10	0.66056	D	0.02	-2.1483	19.0216	0.92917	0.0:0.0:1.0:0.0	.	231;231	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	231;231;176;10	ENSP00000412292:R231C;ENSP00000360005:R231C;ENSP00000431477:R10C	ENSP00000360003:R176C	R	-	1	0	DEPDC1	68726675	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	8.664000	0.91139	2.488000	0.83962	0.585000	0.79938	CGT		0.338	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		18	232	0	0	0	1	0	18	232				
HAPLN3	145864	broad.mit.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GACACGCACACGCCGCGGGGA	0.657																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(247-249)cGt>cAt		hyaluronan and proteoglycan link protein 3							73.0	70.0	71.0					15																	89424833		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424833C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.248G>A	15.37:g.89424833C>T	ENSP00000352606:p.Arg83His					HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	p.R83H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			3	462	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		83			Ig-like V-type.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.248G>A	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	4.290	0.052971	0.08291	.	.	ENSG00000140511	ENST00000359595	T	0.64991	-0.13	4.22	1.13	0.20643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.478425	0.18864	N	0.129039	T	0.38692	0.1050	N	0.11927	0.2	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21546	0.035;0.035	T	0.19484	-1.0304	10	0.37606	T	0.19	-2.6237	7.3451	0.26658	0.0:0.2601:0.2903:0.4496	.	83;83	A8K7T8;Q96S86	.;HPLN3_HUMAN	H	83	ENSP00000352606:R83H	ENSP00000352606:R83H	R	-	2	0	HAPLN3	87225837	0.540000	0.26410	0.013000	0.15412	0.006000	0.05464	0.918000	0.28678	-0.072000	0.12864	-0.823000	0.03104	CGT		0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		107	470	0	0	0	1	0	107	470				
CHRNA2	1135	broad.mit.edu	37	8	27327295	27327295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27327295C>T	ENST00000520933.2	-	2	430	c.277G>A	c.(277-279)Gct>Act	p.A93T	CHRNA2_ENST00000407991.1_Missense_Mutation_p.A93T|CHRNA2_ENST00000240132.2_Intron			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	93					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	ATGAGCTGAGCGATGGACAGT	0.632																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(277-279)Gct>Act		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						133.0	114.0	121.0					8																	27327295		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27327295C>T	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.277G>A	8.37:g.27327295C>T	ENSP00000429616:p.Ala93Thr					CHRNA2_ENST00000520933.2_Missense_Mutation_p.A93T|CHRNA2_ENST00000240132.2_Intron	p.A93T	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	3	885	-		Ovarian(32;2.61e-05)	93					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.277G>A	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283043	0.80803	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000524096	T;T;T	0.78481	-1.18;-1.18;-1.18	4.77	4.77	0.60923	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101921	0.64402	D	0.000002	T	0.65585	0.2705	N	0.17723	0.515	0.58432	D	0.999999	P	0.47034	0.889	B	0.40782	0.34	T	0.68606	-0.5364	10	0.39692	T	0.17	.	15.6641	0.77213	0.0:1.0:0.0:0.0	.	93	Q15822	ACHA2_HUMAN	T	93	ENSP00000385026:A93T;ENSP00000429616:A93T;ENSP00000430422:A93T	ENSP00000385026:A93T	A	-	1	0	CHRNA2	27383212	0.992000	0.36948	0.914000	0.36105	0.807000	0.45602	3.017000	0.49615	2.653000	0.90120	0.561000	0.74099	GCT		0.632	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			115	609	0	0	0	1	0	115	609				
SCN4A	6329	broad.mit.edu	37	17	62045589	62045589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62045589C>A	ENST00000435607.1	-	6	906	c.830G>T	c.(829-831)aGg>aTg	p.R277M	SCN4A_ENST00000578147.1_Missense_Mutation_p.R277M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	277					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACACTTCTGCCTCAGGTTTCC	0.547																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(829-831)aGg>aTg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						133.0	137.0	135.0					17																	62045589		2179	4283	6462	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045589C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.830G>T	17.37:g.62045589C>A	ENSP00000396320:p.Arg277Met					SCN4A_ENST00000435607.1_Missense_Mutation_p.R277M	p.R277M			P35499	SCN4A_HUMAN			6	906	-			277					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.830G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562933	0.86335	.	.	ENSG00000007314	ENST00000435607	D	0.98732	-5.1	5.21	5.21	0.72293	Ion transport (1);	0.055852	0.64402	D	0.000002	D	0.99354	0.9773	M	0.93720	3.45	0.49687	D	0.999815	D	0.89917	1.0	D	0.79108	0.992	D	0.98850	1.0758	10	0.54805	T	0.06	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	277	P35499	SCN4A_HUMAN	M	277	ENSP00000396320:R277M	ENSP00000396320:R277M	R	-	2	0	SCN4A	59399321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.717000	0.92951	0.655000	0.94253	AGG		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		108	385	1	0	1.12176e-53	1	1.39864e-53	108	385				
ZNF345	25850	broad.mit.edu	37	19	37368396	37368396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368396C>T	ENST00000529555.1	+	2	1452	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ZNF345_ENST00000420450.1_Missense_Mutation_p.R222W|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R222W|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	222					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)			TCAACATCGGCGGATTCATAC	0.443																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(664-666)Cgg>Tgg		zinc finger protein 345							73.0	71.0	72.0					19																	37368396		2203	4300	6503	SO:0001583	missense	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.chr19:37368396C>T	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.664C>T	19.37:g.37368396C>T	ENSP00000431202:p.Arg222Trp					ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R222W|ZNF345_ENST00000589046.1_Missense_Mutation_p.R222W	p.R222W			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1452	+	Esophageal squamous(110;0.183)		222						Missense_Mutation	SNP	ENST00000529555.1	37	c.664C>T	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558761	0.45590	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.02498	4.27;4.27	4.14	0.46	0.16684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14917	0.0360	M	0.82323	2.585	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02901	-1.1096	8	.	.	.	.	12.5431	0.56184	0.2942:0.7058:0.0:0.0	.	222	Q14585	ZN345_HUMAN	W	222	ENSP00000431216:R222W;ENSP00000431202:R222W	.	R	+	1	2	ZNF345	42060236	0.000000	0.05858	0.542000	0.28115	0.991000	0.79684	-0.512000	0.06313	-0.073000	0.12842	0.561000	0.74099	CGG		0.443	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			53	278	0	0	0	1	0	53	278				
BAG3	9531	broad.mit.edu	37	10	121429651	121429651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429651G>A	ENST00000369085.3	+	2	775	c.469G>A	c.(469-471)Gcg>Acg	p.A157T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	157					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGTGGCAGCGGCGGCGGCAGC	0.677																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(469-471)Gcg>Acg		BCL2-associated athanogene 3							26.0	30.0	28.0					10																	121429651		2189	4275	6464	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121429651G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.469G>A	10.37:g.121429651G>A	ENSP00000358081:p.Ala157Thr						p.A157T	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	2	775	+		Lung NSC(174;0.109)|all_lung(145;0.142)	157					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.469G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024051	0.19433	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74737	-0.83;-0.87	5.28	4.36	0.52297	.	0.414011	0.28290	N	0.015893	T	0.66713	0.2817	L	0.53249	1.67	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12837	0.008;0.008	T	0.55108	-0.8192	10	0.30854	T	0.27	-2.4151	9.2785	0.37714	0.0737:0.0:0.7831:0.1432	.	157;157	O95817;Q53GY1	BAG3_HUMAN;.	T	157;99	ENSP00000358081:A157T;ENSP00000410036:A99T	ENSP00000358081:A157T	A	+	1	0	BAG3	121419641	1.000000	0.71417	0.016000	0.15963	0.045000	0.14185	3.823000	0.55715	1.195000	0.43115	0.561000	0.74099	GCG		0.677	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		60	336	0	0	0	1	0	60	336				
CCL21	6366	broad.mit.edu	37	9	34709608	34709608	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34709608A>T	ENST00000259607.2	-	3	317	c.260T>A	c.(259-261)aTg>aAg	p.M87K	CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	87					activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGATGCTGCATCAGCTGCTG	0.592																																						ENST00000259607.2																			0				large_intestine(4)	4						c.(259-261)aTg>aAg		chemokine (C-C motif) ligand 21							54.0	53.0	53.0					9																	34709608		2203	4300	6503	SO:0001583	missense	6366				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity	g.chr9:34709608A>T	AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.260T>A	9.37:g.34709608A>T	ENSP00000259607:p.Met87Lys					CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	p.M87K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	3	317	-	all_epithelial(49;0.0899)		87						Missense_Mutation	SNP	ENST00000259607.2	37	c.260T>A	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505179	0.85282	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.06449	3.3;3.3	5.51	5.51	0.81932	Chemokine interleukin-8-like domain (3);	0.085402	0.51477	D	0.000087	T	0.21267	0.0512	M	0.81239	2.535	0.44976	D	0.997993	D	0.59357	0.985	P	0.57620	0.824	T	0.00433	-1.1742	10	0.87932	D	0	-29.6242	12.2957	0.54844	1.0:0.0:0.0:0.0	.	87	O00585	CCL21_HUMAN	K	87	ENSP00000259607:M87K;ENSP00000368069:M87K	ENSP00000259607:M87K	M	-	2	0	CCL21	34699608	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.071000	0.57556	2.212000	0.71576	0.528000	0.53228	ATG		0.592	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	NM_002989		66	278	0	0	0	1	0	66	278				
PLEC	5339	broad.mit.edu	37	8	145007511	145007511	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007511C>A	ENST00000322810.4	-	13	1852	c.1683G>T	c.(1681-1683)cgG>cgT	p.R561R	PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000398774.2_Silent_p.R392R|PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000357649.2_Silent_p.R428R|PLEC_ENST00000436759.2_Silent_p.R451R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000354958.2_Silent_p.R402R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	561	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCAGCAGCCGGACATCCT	0.647																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1681-1683)cgG>cgT		plectin							60.0	67.0	65.0					8																	145007511		2126	4232	6358	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145007511C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1683G>T	8.37:g.145007511C>A						PLEC_ENST00000357649.2_Silent_p.R428R|PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000398774.2_Silent_p.R392R|PLEC_ENST00000354958.2_Silent_p.R402R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000436759.2_Silent_p.R451R	p.R561R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			13	1852	-			561			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.1683G>T	CCDS43772.1																																																																																				0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		63	307	1	0	5.80444e-35	1	6.91851e-35	63	307				
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A	rs566360232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4168011G>A	ENST00000305958.4	+	7	1850	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SMOX_ENST00000346595.2_Missense_Mutation_p.R177H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	542					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.0					ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(1624-1626)cGc>cAc		spermine oxidase	Spermine(DB00127)						61.0	53.0	56.0					20																	4168011		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4168011G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1625G>A	20.37:g.4168011G>A	ENSP00000307252:p.Arg542His					SMOX_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000346595.2_Missense_Mutation_p.R177H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H	p.R542H	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			7	1850	+			542					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1625G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165618	0.38217	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460;ENST00000457205	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.22	4.27	0.50696	Amine oxidase (1);	0.050195	0.85682	D	0.000000	D	0.92202	0.7527	M	0.84948	2.725	0.54753	D	0.999986	B;P;B;B;B;P	0.37083	0.159;0.581;0.213;0.385;0.1;0.581	B;B;B;B;B;B	0.31016	0.039;0.123;0.023;0.071;0.035;0.123	D	0.91219	0.5005	10	0.54805	T	0.06	-12.7215	11.6125	0.51069	0.0867:0.0:0.9133:0.0	.	466;572;177;542;489;519	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	H	489;542;519;177;542;429	ENSP00000344595:R489H;ENSP00000307252:R542H;ENSP00000278795:R519H;ENSP00000341775:R177H;ENSP00000368773:R542H;ENSP00000407269:R429H	ENSP00000278795:R519H	R	+	2	0	SMOX	4116011	1.000000	0.71417	0.976000	0.42696	0.226000	0.24999	4.659000	0.61504	1.197000	0.43143	-0.145000	0.13849	CGC		0.632	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		74	296	0	0	0	1	0	74	296				
BTK	695	broad.mit.edu	37	X	100630208	100630208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100630208G>A	ENST00000308731.7	-	2	228	c.65C>T	c.(64-66)cCt>cTt	p.P22L	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	22	Inositol-(1,3,4,5)-tetrakisphosphate 1- binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAAGTTTAGAGGTGATGTTTT	0.443									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(64-66)cCt>cTt		Bruton agammaglobulinemia tyrosine kinase							195.0	171.0	179.0					X																	100630208		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630208G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.65C>T	X.37:g.100630208G>A	ENSP00000308176:p.Pro22Leu					BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	p.P22L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			2	228	-			22			PH.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.65C>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387602	0.82902	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93659	-3.26;-3.26	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	0.998;0.99;1.0	D;D;D	0.87578	0.912;0.933;0.998	D	0.95856	0.8879	10	0.51188	T	0.08	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	22;22;22	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	L	22	ENSP00000361971:P22L;ENSP00000308176:P22L	ENSP00000308176:P22L	P	-	2	0	BTK	100516864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.237000	0.73441	0.600000	0.82982	CCT		0.443	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		183	541	0	0	0	1	0	183	541				
COL4A3BP	10087	broad.mit.edu	37	5	74676924	74676924	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74676924G>A	ENST00000405807.4	-	16	2141	c.1720C>T	c.(1720-1722)Cta>Tta	p.L574L	COL4A3BP_ENST00000380494.5_Silent_p.L702L|COL4A3BP_ENST00000261415.7_Silent_p.L548L|COL4A3BP_ENST00000508692.1_Intron	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	574	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTTGCATAGAATGTTGTCC	0.373																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(2104-2106)Cta>Tta		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							241.0	215.0	224.0					5																	74676924		2203	4300	6503	SO:0001819	synonymous_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74676924G>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1720C>T	5.37:g.74676924G>A						COL4A3BP_ENST00000405807.4_Silent_p.L574L|COL4A3BP_ENST00000261415.7_Silent_p.L548L|COL4A3BP_ENST00000508692.1_Intron	p.L702L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	17	2397	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	574					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	c.2104C>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	9.121	1.009043	0.19199	.	.	ENSG00000113163	ENST00000508809	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	T	0.76905	0.4053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	-7.9902	20.0985	0.97858	0.0:0.0:1.0:0.0	.	.	.	.	F	75	.	.	S	-	2	0	COL4A3BP	74712680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.644000	0.61397	2.742000	0.94016	0.579000	0.79373	TCT		0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		136	629	0	0	0	1	0	136	629				
UNC79	57578	broad.mit.edu	37	14	94088131	94088131	+	Missense_Mutation	SNP	C	C	T	rs139010639		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94088131C>T	ENST00000393151.2	+	30	4552	c.4552C>T	c.(4552-4554)Cgt>Tgt	p.R1518C	UNC79_ENST00000555664.1_Missense_Mutation_p.R1518C|UNC79_ENST00000553484.1_Missense_Mutation_p.R1540C|UNC79_ENST00000256339.4_Missense_Mutation_p.R1341C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1518					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGACGAACATCGTAGGAAGTC	0.438																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(4618-4620)Cgt>Tgt		unc-79 homolog (C. elegans)							100.0	95.0	97.0					14																	94088131		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088131C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4552C>T	14.37:g.94088131C>T	ENSP00000376858:p.Arg1518Cys					UNC79_ENST00000555664.1_Missense_Mutation_p.R1518C|UNC79_ENST00000393151.2_Missense_Mutation_p.R1518C|UNC79_ENST00000256339.4_Missense_Mutation_p.R1341C	p.R1540C			Q9P2D8	UNC79_HUMAN			31	4772	+			1518					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4618C>T		.	.	.	.	.	.	.	.	.	.	C	18.60	3.659859	0.67586	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32753	1.5;1.44;1.51;1.5	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.44065	-0.9352	10	0.87932	D	0	-17.992	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1540	C9JQL1	.	C	1341;1518;1540;1518;1540	ENSP00000256339:R1341C;ENSP00000450868:R1518C;ENSP00000451360:R1540C;ENSP00000376858:R1518C	ENSP00000256339:R1341C	R	+	1	0	KIAA1409	93157884	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	5.717000	0.68446	2.847000	0.97988	0.591000	0.81541	CGT		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		80	317	0	0	0	1	0	80	317				
NEB	4703	broad.mit.edu	37	2	152518831	152518831	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152518831C>T	ENST00000172853.10	-	46	5935	c.5788G>A	c.(5788-5790)Gac>Aac	p.D1930N	NEB_ENST00000603639.1_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000397345.3_Missense_Mutation_p.D1930N|NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000427231.2_Missense_Mutation_p.D1930N			P20929	NEBU_HUMAN	nebulin	1930					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCATGAAGTCAGCATAGTCA	0.418																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5788-5790)Gac>Aac		nebulin							100.0	95.0	96.0					2																	152518831		1853	4096	5949	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152518831C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5788G>A	2.37:g.152518831C>T	ENSP00000172853:p.Asp1930Asn					NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000603639.1_Missense_Mutation_p.D1930N|NEB_ENST00000172853.10_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000427231.2_Missense_Mutation_p.D1930N	p.D1930N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	46	5990	-			1930					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5788G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.112924	0.77210	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05925	3.37;3.4;3.4;3.41	5.75	5.75	0.90469	.	0.267158	0.43919	D	0.000508	T	0.03783	0.0107	N	0.01705	-0.755	0.80722	D	1	B	0.21071	0.051	B	0.28305	0.088	T	0.55166	-0.8183	10	0.13108	T	0.6	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	1930	P20929	NEBU_HUMAN	N	1930	ENSP00000386259:D1930N;ENSP00000380505:D1930N;ENSP00000416578:D1930N;ENSP00000172853:D1930N	ENSP00000172853:D1930N	D	-	1	0	NEB	152227077	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.057000	0.41365	2.866000	0.98385	0.650000	0.86243	GAC		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		15	428	0	0	0	1	0	15	428				
TRAV16	28667	broad.mit.edu	37	14	22458898	22458898	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22458898G>A	ENST00000390444.1	+	0	50									T cell receptor alpha variable 16																		GTTATAGGAGGAACAAGAGCC	0.423																																						ENST00000390444.1																			0																				53.0	50.0	51.0					14																	22458898		1836	4086	5922			0							g.chr14:22458898G>A	AE000659		14q11.2	2012-02-07			ENSG00000211796	ENSG00000211796		"""T cell receptors / TRA locus"""	12112	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV16S1, TCRAV9S1			OTTHUMG00000170642		14.37:g.22458898G>A														0	50	+									RNA	SNP	ENST00000390444.1	37																																																																																						0.423	TRAV16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409890.1	NG_001332		21	74	0	0	0	1	0	21	74				
FBN1	2200	broad.mit.edu	37	15	48779354	48779354	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779354G>A	ENST00000316623.5	-	29	3962	c.3507C>T	c.(3505-3507)ggC>ggT	p.G1169G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1169	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCACGCAACGGCCATTGGGGC	0.448																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(3505-3507)ggC>ggT		fibrillin 1							80.0	71.0	74.0					15																	48779354		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48779354G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3507C>T	15.37:g.48779354G>A							p.G1169G	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	29	3962	-		all_lung(180;0.00279)	1169			EGF-like 18; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.3507C>T	CCDS32232.1																																																																																				0.448	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			37	189	0	0	0	1	0	37	189				
DNM1P46	196968	broad.mit.edu	37	15	100332479	100332479	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100332479T>C	ENST00000341853.1	-	0	1712				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										ATTCATCCAGTACTGGAAAGA	0.587																																						ENST00000341853.1																			0																				99.0	99.0	99.0					15																	100332479		876	1991	2867			0							g.chr15:100332479T>C	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332479T>C								NR_003260.1						0	1712	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.587	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		21	445	0	0	0	1	0	21	445				
DCLK3	85443	broad.mit.edu	37	3	36757013	36757013	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36757013C>A	ENST00000416516.2	-	5	2244		c.e5-1		DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTTAGCAGCTGTTGGAATG	0.473																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-1		doublecortin-like kinase 3							69.0	69.0	69.0					3																	36757013		1928	4125	6053	SO:0001630	splice_region_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36757013C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1754-1G>T	3.37:g.36757013C>A								NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			5	2244	-									Splice_Site	SNP	ENST00000416516.2	37		CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585628	0.86748	.	.	ENSG00000163673	ENST00000416516	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3271	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCLK3	36732017	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.295000	0.78780	2.885000	0.99019	0.655000	0.94253	.		0.473	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	Intron	56	202	1	0	1.22119e-34	1	1.45331e-34	56	202				
LRRC43	254050	broad.mit.edu	37	12	122669187	122669187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122669187G>A	ENST00000339777.4	+	2	300	c.272G>A	c.(271-273)cGc>cAc	p.R91H	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	91								p.R91H(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCCGCAGCCGCCACTCCCCC	0.607																																						ENST00000339777.4																			1	Substitution - Missense(1)	p.R91H(1)	breast(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(271-273)cGc>cAc		leucine rich repeat containing 43							38.0	42.0	41.0					12																	122669187		1948	4134	6082	SO:0001583	missense	254050							g.chr12:122669187G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.272G>A	12.37:g.122669187G>A	ENSP00000344233:p.Arg91His					LRRC43_ENST00000425921.1_5'UTR	p.R91H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	300	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		91					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.272G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907017	0.52333	.	.	ENSG00000158113	ENST00000339777	T	0.55588	0.51	4.94	0.924	0.19418	.	.	.	.	.	T	0.23649	0.0572	N	0.08118	0	0.58432	D	0.999993	B	0.33807	0.426	B	0.11329	0.006	T	0.03981	-1.0987	9	0.52906	T	0.07	-2.3834	5.9409	0.19192	0.1277:0.4215:0.3783:0.0725	.	91	Q8N309	LRC43_HUMAN	H	91	ENSP00000344233:R91H	ENSP00000344233:R91H	R	+	2	0	LRRC43	121235140	0.001000	0.12720	0.996000	0.52242	0.951000	0.60555	-0.107000	0.10873	0.125000	0.18397	-0.384000	0.06662	CGC		0.607	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		11	169	0	0	0	1	0	11	169				
ERC2	26059	broad.mit.edu	37	3	56330455	56330455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56330455C>A	ENST00000288221.6	-	3	921	c.666G>T	c.(664-666)caG>caT	p.Q222H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	222						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGATTGTCAACTGTAGGTGCT	0.517																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(664-666)caG>caT		ELKS/RAB6-interacting/CAST family member 2							63.0	59.0	60.0					3																	56330455		2001	4171	6172	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56330455C>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.666G>T	3.37:g.56330455C>A	ENSP00000288221:p.Gln222His						p.Q222H	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	3	921	-			222					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.666G>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632651	0.47049	.	.	ENSG00000187672	ENST00000288221	T	0.54479	0.57	5.86	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	L	0.53729	1.69	0.44181	D	0.996993	D	0.62365	0.991	D	0.75484	0.986	T	0.60924	-0.7166	10	0.46703	T	0.11	-27.0337	10.2316	0.43258	0.0:0.7198:0.0:0.2802	.	222	O15083	ERC2_HUMAN	H	222	ENSP00000288221:Q222H	ENSP00000288221:Q222H	Q	-	3	2	ERC2	56305495	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.649000	0.46656	0.496000	0.27904	0.650000	0.86243	CAG		0.517	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		56	213	1	0	5.82388e-19	1	6.47979e-19	56	213				
CACNA1E	777	broad.mit.edu	37	1	181762906	181762906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181762906C>T	ENST00000367573.2	+	45	6004	c.6004C>T	c.(6004-6006)Cca>Tca	p.P2002S	CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1983S|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1953S|CACNA1E_ENST00000367567.4_Intron	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2002					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATCTTCTATGCCACGTCTGAC	0.483																																						ENST00000357570.5																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5857-5859)Cca>Tca		calcium channel, voltage-dependent, R type, alpha 1E subunit							33.0	30.0	31.0					1																	181762906		876	1991	2867	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181762906C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6004C>T	1.37:g.181762906C>T	ENSP00000356545:p.Pro2002Ser					CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1983S|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P2002S	p.P1953S			Q15878	CAC1E_HUMAN			45	6169	+			2002					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5857C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035955	0.93630	.	.	ENSG00000198216	ENST00000357570;ENST00000360108;ENST00000367573	D;D;D	0.99557	-6.15;-6.15;-6.16	5.8	5.8	0.92144	.	0.264086	0.37623	N	0.002001	D	0.99227	0.9731	L	0.42245	1.32	0.80722	D	1	.	.	.	.	.	.	D	0.99841	1.1062	8	0.62326	D	0.03	.	19.6581	0.95851	0.0:1.0:0.0:0.0	.	.	.	.	S	1953;1983;2002	ENSP00000350183:P1953S;ENSP00000353222:P1983S;ENSP00000356545:P2002S	ENSP00000350183:P1953S	P	+	1	0	CACNA1E	180029529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.347000	0.73004	2.735000	0.93741	0.655000	0.94253	CCA		0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		22	68	0	0	0	1	0	22	68				
PAPPA	5069	broad.mit.edu	37	9	119158837	119158837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158837G>A	ENST00000328252.3	+	22	5195	c.4826G>A	c.(4825-4827)cGg>cAg	p.R1609Q	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q|AL137024.1_ENST00000401363.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGCTTGTCGGGACCCCCAG	0.517																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4825-4827)cGg>cAg		pregnancy-associated plasma protein A, pappalysin 1							176.0	159.0	164.0					9																	119158837		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119158837G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4826G>A	9.37:g.119158837G>A	ENSP00000330658:p.Arg1609Gln					PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q|PAPPA_ENST00000483254.1_3'UTR	p.R1609Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			22	5195	+			1609					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4826G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260667	0.59431	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.04156	4.48;3.69	5.61	4.7	0.59300	.	0.117087	0.64402	D	0.000014	T	0.10465	0.0256	L	0.55990	1.75	0.42726	D	0.993692	P;D	0.65815	0.948;0.995	B;P	0.50352	0.34;0.638	T	0.02031	-1.1226	10	0.66056	D	0.02	-14.1668	12.96	0.58453	0.0:0.0:0.7077:0.2923	.	647;1609	F5GZ19;Q13219	.;PAPP1_HUMAN	Q	1609;647	ENSP00000330658:R1609Q;ENSP00000441461:R647Q	ENSP00000330658:R1609Q	R	+	2	0	PAPPA	118198658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.218000	0.42889	1.357000	0.45904	0.491000	0.48974	CGG		0.517	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		103	643	0	0	0	1	0	103	643				
OR51E2	81285	broad.mit.edu	37	11	4703289	4703289	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4703289A>G	ENST00000396950.3	-	2	892	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	218					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATTATCAGAAAATAGGACAA	0.488																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(652-654)tTt>tCt		olfactory receptor, family 51, subfamily E, member 2							93.0	83.0	86.0					11																	4703289		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703289A>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.653T>C	11.37:g.4703289A>G	ENSP00000380153:p.Phe218Ser						p.F218S	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	892	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	218					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.653T>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960941	0.53400	.	.	ENSG00000167332	ENST00000396950	T	0.00048	8.82	4.97	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.00073	0.0002	N	0.02169	-0.655	0.09310	N	1	P	0.43662	0.814	B	0.41988	0.372	T	0.49835	-0.8897	10	0.54805	T	0.06	.	9.4954	0.38984	0.9156:0.0:0.0844:0.0	.	218	Q9H255	O51E2_HUMAN	S	218	ENSP00000380153:F218S	ENSP00000380153:F218S	F	-	2	0	OR51E2	4659865	0.000000	0.05858	0.905000	0.35620	0.927000	0.56198	1.157000	0.31724	0.919000	0.36945	0.533000	0.62120	TTT		0.488	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		67	254	0	0	0	1	0	67	254				
DNAJB8	165721	broad.mit.edu	37	3	128181722	128181722	+	Missense_Mutation	SNP	G	G	A	rs374415635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128181722G>A	ENST00000469083.1	-	2	2924	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	123					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGGCCACCACGGTCACTATTG	0.582																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(367-369)Cgt>Tgt		DnaJ (Hsp40) homolog, subfamily B, member 8		A	CYS/ARG	0,4406		0,0,2203	45.0	48.0	47.0		367	-0.2	0.0	3		47	1,8599	818.9+/-406.8	0,1,4299	no	missense	DNAJB8	NM_153330.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	123/233	128181722	1,13005	2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181722G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.367C>T	3.37:g.128181722G>A	ENSP00000417418:p.Arg123Cys					DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C	p.R123C			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2924	-			123					B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.367C>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	A	0.198	-1.046853	0.01997	0.0	1.16E-4	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.73575	-0.76;-0.76	3.92	-0.192	0.13248	.	0.000000	0.32578	U	0.005905	T	0.54367	0.1854	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34800	-0.9814	10	0.38643	T	0.18	.	2.1147	0.03711	0.2071:0.1389:0.512:0.142	.	123	Q8NHS0	DNJB8_HUMAN	C	123	ENSP00000417418:R123C;ENSP00000316053:R123C	ENSP00000316053:R123C	R	-	1	0	DNAJB8	129664412	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.734000	0.26101	-0.869000	0.04052	-4.048000	0.00012	CGT		0.582	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		59	318	0	0	0	1	0	59	318				
SERPINF2	5345	broad.mit.edu	37	17	1652003	1652003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1652003G>A	ENST00000324015.3	+	8	904	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H|SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	276					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TACCCGCTGCGCTGGTTCTTG	0.622																																						ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(826-828)cGc>cAc		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						92.0	89.0	90.0					17																	1652003		2203	4300	6503	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1652003G>A	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.827G>A	17.37:g.1652003G>A	ENSP00000321853:p.Arg276His					SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H|SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H	p.R276H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	8	904	+			276					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.827G>A	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071902	0.36566	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000453723;ENST00000382061	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.95	2.97	0.34412	Serpin domain (3);	0.131813	0.64402	N	0.000003	T	0.78104	0.4231	L	0.49778	1.585	0.33688	D	0.612924	B;B	0.29378	0.243;0.097	B;B	0.18263	0.021;0.009	T	0.76686	-0.2868	9	.	.	.	.	11.6226	0.51126	0.1465:0.0:0.8535:0.0	.	212;276	B4E1B7;P08697	.;A2AP_HUMAN	H	276;212;160;276	ENSP00000321853:R276H;ENSP00000403877:R212H;ENSP00000402056:R160H;ENSP00000371493:R276H	.	R	+	2	0	SERPINF2	1598753	1.000000	0.71417	0.947000	0.38551	0.101000	0.19017	4.817000	0.62650	0.617000	0.30160	-0.244000	0.11960	CGC		0.622	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		36	598	0	0	0	1	0	36	598				
OVCH1	341350	broad.mit.edu	37	12	29644056	29644056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29644056G>A	ENST00000318184.5	-	5	523	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	175	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCATCCACTGGATAAGCAAAG	0.408																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(523-525)tCc>tTc		ovochymase 1							135.0	129.0	131.0					12																	29644056		1846	4093	5939	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29644056G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.524C>T	12.37:g.29644056G>A	ENSP00000326708:p.Ser175Phe						p.S175F	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			5	523	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		175			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.524C>T		.	.	.	.	.	.	.	.	.	.	G	11.28	1.592696	0.28357	.	.	ENSG00000187950	ENST00000318184	D	0.92699	-3.09	2.47	0.599	0.17519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84037	0.5384	N	0.21194	0.64	0.09310	N	0.999997	B	0.24721	0.11	B	0.27500	0.08	T	0.73845	-0.3854	9	0.59425	D	0.04	.	4.6686	0.12678	0.3229:0.0:0.6771:0.0	.	175	Q7RTY7	OVCH1_HUMAN	F	175	ENSP00000326708:S175F	ENSP00000326708:S175F	S	-	2	0	OVCH1	29535323	0.757000	0.28394	0.327000	0.25402	0.064000	0.16182	0.845000	0.27668	0.150000	0.19136	-0.244000	0.11960	TCC		0.408	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		65	230	0	0	0	1	0	65	230				
LRRCC1	85444	broad.mit.edu	37	8	86042165	86042165	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042165C>A	ENST00000360375.3	+	11	1787	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	LRRCC1_ENST00000414626.2_Silent_p.I526I	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	546					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAAGACTGATCCAAGAGGTGG	0.363																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1576-1578)atC>atA		leucine rich repeat and coiled-coil centrosomal protein 1							90.0	94.0	93.0					8																	86042165		1824	4081	5905	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86042165C>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1638C>A	8.37:g.86042165C>A						LRRCC1_ENST00000360375.3_Silent_p.I546I	p.I526I			Q9C099	LRCC1_HUMAN			10	2467	+			546					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.1578C>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	6.180	0.401444	0.11696	.	.	ENSG00000133739	ENST00000426019	.	.	.	5.27	1.93	0.25924	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10660	-1.0620	5	0.21014	T	0.42	-0.2633	5.4284	0.16440	0.0:0.3821:0.1529:0.465	.	.	.	.	T	266	.	ENSP00000400370:P266T	P	+	1	0	LRRCC1	86229417	0.954000	0.32549	0.949000	0.38748	0.763000	0.43281	0.082000	0.14847	0.158000	0.19367	-0.345000	0.07892	CCA		0.363	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		85	426	1	0	7.74691e-53	1	9.64371e-53	85	426				
STK31	56164	broad.mit.edu	37	7	23775265	23775265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23775265G>A	ENST00000355870.3	+	7	711	c.592G>A	c.(592-594)Gat>Aat	p.D198N	STK31_ENST00000428484.1_Missense_Mutation_p.D175N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D198N|STK31_ENST00000354639.3_Missense_Mutation_p.D175N	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	198						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGCAGTGTGGATATAGGGGA	0.398																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(523-525)Gat>Aat		serine/threonine kinase 31							135.0	126.0	129.0					7																	23775265		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775265G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.592G>A	7.37:g.23775265G>A	ENSP00000348132:p.Asp198Asn					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D198N|STK31_ENST00000355870.3_Missense_Mutation_p.D198N|STK31_ENST00000428484.1_Missense_Mutation_p.D175N	p.D175N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			7	987	+			198					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.523G>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.449376	0.84101	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.16	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	L	0.34521	1.04	0.43255	D	0.99518	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32322	-0.9911	10	0.72032	D	0.01	-19.5725	12.3752	0.55275	0.0841:0.0:0.9159:0.0	.	198;198	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	198;198;175;175	ENSP00000348132:D198N;ENSP00000411852:D198N;ENSP00000346660:D175N;ENSP00000406146:D175N	ENSP00000346660:D175N	D	+	1	0	STK31	23741790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.680000	0.61656	2.557000	0.86248	0.467000	0.42956	GAT		0.398	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		114	480	0	0	0	1	0	114	480				
CCNYL1	151195	broad.mit.edu	37	2	208589556	208589556	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208589556C>T	ENST00000295414.3	+	2	464	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S|CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	85					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TTCTGACCATCCAAGGGCAAG	0.368																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(253-255)Cca>Tca		cyclin Y-like 1							83.0	75.0	77.0					2																	208589556		2203	4300	6503	SO:0001583	missense	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208589556C>T	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.253C>T	2.37:g.208589556C>T	ENSP00000295414:p.Pro85Ser					CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S|CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S	p.P85S			Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	2	464	+			85					Q6NX60	Missense_Mutation	SNP	ENST00000295414.3	37	c.253C>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.937146	0.73557	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	T;T;T	0.48201	1.2;1.78;0.82	4.7	4.7	0.59300	.	0.129554	0.52532	U	0.000068	T	0.71169	0.3308	M	0.82823	2.61	0.42683	D	0.993554	D;D	0.71674	0.998;0.996	D;D	0.70487	0.969;0.931	T	0.77413	-0.2597	10	0.72032	D	0.01	.	17.5865	0.87983	0.0:1.0:0.0:0.0	.	85;85	Q8N7R7-2;Q8N7R7	.;CCYL1_HUMAN	S	15;85;85	ENSP00000376045:P15S;ENSP00000295414:P85S;ENSP00000342344:P85S	ENSP00000295414:P85S	P	+	1	0	CCNYL1	208297801	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	3.083000	0.50136	2.321000	0.78463	0.555000	0.69702	CCA		0.368	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		25	115	0	0	0	1	0	25	115				
ABI3BP	25890	broad.mit.edu	37	3	100569529	100569529	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100569529A>G	ENST00000284322.5	-	14	1384	c.1275T>C	c.(1273-1275)acT>acC	p.T425T	ABI3BP_ENST00000471714.1_Silent_p.T474T|ABI3BP_ENST00000495063.1_Silent_p.T474T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	425	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGTTCAAGAGTTCTAGAAG	0.353																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1420-1422)acT>acC		ABI family, member 3 (NESH) binding protein							130.0	127.0	128.0					3																	100569529		1807	4070	5877	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100569529A>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1275T>C	3.37:g.100569529A>G						ABI3BP_ENST00000284322.5_Silent_p.T425T|ABI3BP_ENST00000495063.1_Silent_p.T474T	p.T474T			Q7Z7G0	TARSH_HUMAN			16	1531	-			427			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.1422T>C	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.425|9.425	1.084092|1.084092	0.20309|0.20309	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000459682	.|.	.|.	.|.	5.87|5.87	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|T	0.60314|0.60314	0.2259|0.2259	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57505|0.57505	-0.7800|-0.7800	4|4	.|.	.|.	.|.	-11.1312|-11.1312	10.663|10.663	0.45712|0.45712	0.7473:0.0:0.0:0.2526|0.7473:0.0:0.0:0.2526	.|.	.|.	.|.	.|.	P|P	103|51	.|.	.|.	L|S	-|-	2|1	0|0	ABI3BP|ABI3BP	102052219|102052219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.996000|2.996000	0.49449|0.49449	1.131000|1.131000	0.42111|0.42111	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.353	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			53	267	0	0	0	1	0	53	267				
PATL1	219988	broad.mit.edu	37	11	59425059	59425059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59425059C>A	ENST00000300146.9	-	5	649	c.565G>T	c.(565-567)Gct>Tct	p.A189S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	189	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATGGGGACAGCTCTAACAGGA	0.532																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(565-567)Gct>Tct		protein associated with topoisomerase II homolog 1 (yeast)							129.0	123.0	125.0					11																	59425059		1915	4124	6039	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425059C>A	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.565G>T	11.37:g.59425059C>A	ENSP00000300146:p.Ala189Ser						p.A189S	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			5	649	-			189			Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.565G>T	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303311	0.81136	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.48836	0.8	5.64	5.64	0.86602	.	0.175531	0.48286	D	0.000184	T	0.60521	0.2275	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.65815	0.994;0.995	D;D	0.67103	0.915;0.949	T	0.50030	-0.8875	10	0.13470	T	0.59	-13.813	19.3278	0.94270	0.0:1.0:0.0:0.0	.	189;189	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	S	189	ENSP00000300146:A189S	ENSP00000300146:A189S	A	-	1	0	PATL1	59181635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.889000	0.63171	2.653000	0.90120	0.655000	0.94253	GCT		0.532	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		18	406	1	0	4.63292e-17	1	5.10507e-17	18	406				
LRRTM3	347731	broad.mit.edu	37	10	68687299	68687299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68687299G>A	ENST00000361320.4	+	2	1203	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	209					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(625-627)Gaa>Aaa		leucine rich repeat transmembrane neuronal 3							100.0	102.0	101.0					10																	68687299		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687299G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.625G>A	10.37:g.68687299G>A	ENSP00000355187:p.Glu209Lys					CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	p.E209K	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1203	+			209					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.625G>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798719	0.70567	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57907	0.37	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	T	0.67429	0.2892	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.65796	-0.6081	10	0.44086	T	0.13	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	209;209	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	209	ENSP00000355187:E209K	ENSP00000355187:E209K	E	+	1	0	LRRTM3	68357305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.538000	0.85594	0.650000	0.86243	GAA		0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		87	511	0	0	0	1	0	87	511				
NREP	9315	broad.mit.edu	37	5	111071197	111071197	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111071197T>C	ENST00000379671.3	-	4	275	c.11A>G	c.(10-12)tAc>tGc	p.Y4C	NREP_ENST00000419114.2_Missense_Mutation_p.Y4C|NREP_ENST00000509427.1_Missense_Mutation_p.Y4C|NREP_ENST00000257435.7_Missense_Mutation_p.Y4C|NREP_ENST00000450761.2_Missense_Mutation_p.Y4C|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000447165.2_Missense_Mutation_p.Y4C|NREP_ENST00000509979.1_Missense_Mutation_p.Y4C|NREP_ENST00000395634.3_Missense_Mutation_p.Y48C|NREP_ENST00000455559.2_Missense_Mutation_p.Y4C|NREP_ENST00000515855.1_Missense_Mutation_p.Y4C|NREP_ENST00000509025.1_Missense_Mutation_p.Y4C|NREP_ENST00000446294.2_Missense_Mutation_p.Y4C|NREP_ENST00000453526.2_Missense_Mutation_p.Y4C|NREP_ENST00000508870.1_Missense_Mutation_p.Y4C|STARD4-AS1_ENST00000500779.2_RNA	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	4					axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGTTCTGGGTAATAAACCTA	0.398																																						ENST00000379671.3																			0											c.(10-12)tAc>tGc		neuronal regeneration related protein							88.0	89.0	89.0					5																	111071197		2202	4300	6502	SO:0001583	missense	9315					cytoplasm		g.chr5:111071197T>C	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000379671.3:c.11A>G	5.37:g.111071197T>C	ENSP00000368993:p.Tyr4Cys					NREP_ENST00000507742.1_5'UTR|NREP_ENST00000455559.2_Missense_Mutation_p.Y4C|NREP_ENST00000419114.2_Missense_Mutation_p.Y4C|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000515855.1_Missense_Mutation_p.Y4C|NREP_ENST00000508870.1_Missense_Mutation_p.Y4C|NREP_ENST00000257435.7_Missense_Mutation_p.Y4C|NREP_ENST00000450761.2_Missense_Mutation_p.Y4C|NREP_ENST00000453526.2_Missense_Mutation_p.Y4C|NREP_ENST00000395634.3_Missense_Mutation_p.Y48C|NREP_ENST00000509025.1_Missense_Mutation_p.Y4C|NREP_ENST00000447165.2_Missense_Mutation_p.Y4C|NREP_ENST00000509979.1_Missense_Mutation_p.Y4C|NREP_ENST00000509427.1_Missense_Mutation_p.Y4C|NREP_ENST00000446294.2_Missense_Mutation_p.Y4C	p.Y4C	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN			4	275	-			4					B2RDN8|B7Z5D2|D3DSZ8	Missense_Mutation	SNP	ENST00000379671.3	37	c.11A>G	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555628	0.27739	.	.	ENSG00000134986	ENST00000509025;ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000515855;ENST00000509979;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100;ENST00000508161;ENST00000507032	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.31	4.11	0.48088	.	0.398139	0.21371	N	0.075628	T	0.39410	0.1077	.	.	.	0.34410	D	0.696253	B;B;B	0.29378	0.243;0.243;0.031	B;B;B	0.33799	0.17;0.17;0.031	T	0.49254	-0.8959	9	0.34782	T	0.22	-1.824	9.4843	0.38919	0.0:0.0815:0.0:0.9185	.	4;48;4	D6RIC9;B7Z5D2;Q16612	.;.;NP311_HUMAN	C	4;4;4;4;4;48;4;4;4;4;4;4;4;4;4;4;4	ENSP00000426834:Y4C;ENSP00000368993:Y4C;ENSP00000257435:Y4C;ENSP00000408839:Y4C;ENSP00000402965:Y4C;ENSP00000378996:Y48C;ENSP00000422278:Y4C;ENSP00000423320:Y4C;ENSP00000416617:Y4C;ENSP00000399766:Y4C;ENSP00000422630:Y4C;ENSP00000403383:Y4C;ENSP00000392559:Y4C;ENSP00000427149:Y4C;ENSP00000427476:Y4C;ENSP00000422046:Y4C	ENSP00000257435:Y4C	Y	-	2	0	C5orf13	111099096	1.000000	0.71417	0.961000	0.40146	0.628000	0.37860	2.011000	0.40922	0.935000	0.37341	0.533000	0.62120	TAC		0.398	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772		13	257	0	0	0	1	0	13	257				
SERPINA7	6906	broad.mit.edu	37	X	105280503	105280503	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280503C>A	ENST00000327674.4	-	1	882	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	183					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACAACTTTCCCTTTGGTTTGC	0.408																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(547-549)Ggg>Tgg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						168.0	148.0	155.0					X																	105280503		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280503C>A	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.547G>T	X.37:g.105280503C>A	ENSP00000329374:p.Gly183Trp					SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W	p.G183W			P05543	THBG_HUMAN			1	882	-			183					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.547G>T	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396056	0.25205	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.91295	-2.82;-2.82	4.7	1.97	0.26223	Serpin domain (3);	0.000000	0.64402	D	0.000002	D	0.96445	0.8840	H	0.98005	4.125	0.37093	D	0.899548	D	0.89917	1.0	D	0.97110	1.0	D	0.95310	0.8411	10	0.87932	D	0	.	8.2327	0.31608	0.0:0.7401:0.0:0.2599	.	183	P05543	THBG_HUMAN	W	183	ENSP00000329374:G183W;ENSP00000361644:G183W	ENSP00000329374:G183W	G	-	1	0	SERPINA7	105167159	1.000000	0.71417	0.873000	0.34254	0.082000	0.17680	5.491000	0.66887	0.171000	0.19730	0.594000	0.82650	GGG		0.408	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		186	531	1	0	4.74923e-77	1	6.06313e-77	186	531				
RLF	6018	broad.mit.edu	37	1	40702892	40702892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40702892C>A	ENST00000372771.4	+	8	2545	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	840					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATCAGTGAAACTTGAGGAGTC	0.348																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(2518-2520)Ctt>Att		rearranged L-myc fusion							41.0	41.0	41.0					1																	40702892		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40702892C>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2518C>A	1.37:g.40702892C>A	ENSP00000361857:p.Leu840Ile						p.L840I	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	2545	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	840					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.2518C>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	1.635	-0.518082	0.04171	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15372	2.43	5.65	3.72	0.42706	.	0.431666	0.27586	N	0.018704	T	0.12178	0.0296	L	0.38838	1.175	0.28583	N	0.910047	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.13629	-1.0502	10	0.22706	T	0.39	-3.5999	8.1302	0.31022	0.0:0.733:0.1318:0.1352	.	533;840	F5H2M5;Q13129	.;RLF_HUMAN	I	840;533	ENSP00000361857:L840I	ENSP00000361857:L840I	L	+	1	0	RLF	40475479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.488000	0.35551	1.586000	0.49944	0.655000	0.94253	CTT		0.348	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		41	174	1	0	7.53189e-24	1	8.58305e-24	41	174				
PMEPA1	56937	broad.mit.edu	37	20	56227318	56227318	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227318A>T	ENST00000341744.3	-	4	974	c.655T>A	c.(655-657)Tac>Aac	p.Y219N	PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	219					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCGCTGCCGTAGCACGTGGCG	0.682																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(655-657)Tac>Aac		prostate transmembrane protein, androgen induced 1							20.0	24.0	23.0					20																	56227318		2199	4296	6495	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227318A>T	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.655T>A	20.37:g.56227318A>T	ENSP00000345826:p.Tyr219Asn					PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N	p.Y219N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	974	-			219					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.655T>A	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636707	0.67130	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.44881	0.91;0.92;0.92;0.92;0.92;0.94	5.53	5.53	0.82687	.	0.073958	0.56097	D	0.000029	T	0.59074	0.2167	M	0.64997	1.995	0.58432	D	0.999995	D;D	0.67145	0.992;0.996	P;D	0.64237	0.826;0.923	T	0.56920	-0.7899	10	0.33940	T	0.23	-37.163	15.6511	0.77095	1.0:0.0:0.0:0.0	.	184;219	Q5JY37;Q969W9	.;PMEPA_HUMAN	N	219;184;169;169;169;191	ENSP00000345826:Y219N;ENSP00000344014:Y184N;ENSP00000379161:Y169N;ENSP00000265626:Y169N;ENSP00000379159:Y169N;ENSP00000401506:Y191N	ENSP00000265626:Y169N	Y	-	1	0	PMEPA1	55660724	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.663000	0.91134	2.093000	0.63338	0.528000	0.53228	TAC		0.682	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		45	168	0	0	0	1	0	45	168				
SLC44A5	204962	broad.mit.edu	37	1	75704231	75704231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75704231G>A	ENST00000370855.5	-	10	736	c.623C>T	c.(622-624)aCa>aTa	p.T208I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	208					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AACACTTCTTGTCCCTCCATT	0.378																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(622-624)aCa>aTa		solute carrier family 44, member 5							188.0	161.0	170.0					1																	75704231		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75704231G>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.623C>T	1.37:g.75704231G>A	ENSP00000359892:p.Thr208Ile					SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I	p.T208I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			10	736	-			208					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.623C>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435159	0.12045	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.14766	2.87;2.86;2.48	4.9	-1.86	0.07760	.	1.053510	0.07321	N	0.877559	T	0.02848	0.0085	L	0.39085	1.19	0.09310	N	1	B;B;B;B;B	0.16603	0.001;0.01;0.004;0.007;0.018	B;B;B;B;B	0.17979	0.003;0.005;0.003;0.02;0.012	T	0.46555	-0.9183	10	0.33141	T	0.24	0.6744	4.3939	0.11353	0.3631:0.0:0.3885:0.2484	.	202;247;208;208;247	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	208;247;208;78;201	ENSP00000359896:T208I;ENSP00000359892:T208I;ENSP00000443090:T78I	ENSP00000359892:T208I	T	-	2	0	SLC44A5	75476819	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.285000	0.08410	-0.293000	0.08986	-0.218000	0.12543	ACA		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		54	233	0	0	0	1	0	54	233				
TTN	7273	broad.mit.edu	37	2	179418655	179418655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418655G>A	ENST00000591111.1	-	283	84484	c.84260C>T	c.(84259-84261)gCt>gTt	p.A28087V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29728V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28087	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AGGATCAGCAGCTTTGTAGAA	0.398																																						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.(89182-89184)gCt>gTt		titin							62.0	62.0	62.0					2																	179418655		1925	4139	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418655G>A	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.84260C>T	2.37:g.179418655G>A	ENSP00000465570:p.Ala28087Val					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28087V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.A29728V	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)		333	89407	-			28087			Fibronectin type-III 116.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.89183C>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.673021	0.88445	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.61	5.61	0.85477	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70491	0.3230	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.71331	-0.4625	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20663;20788;20855;28087	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	27160;20663;20855;20788;20660	ENSP00000343764:A27160V;ENSP00000434586:A20663V;ENSP00000340554:A20855V;ENSP00000352154:A20788V	ENSP00000340554:A20855V	A	-	2	0	TTN	179126901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.793000	0.96121	0.655000	0.94253	GCT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	190	0	0	0	1	0	41	190				
NOP56	10528	broad.mit.edu	37	20	2636638	2636638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636638C>T	ENST00000329276.5	+	8	1484	c.968C>T	c.(967-969)gCa>gTa	p.A323V	SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	323	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGTATCCAGCATCCACAGTG	0.557																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(967-969)gCa>gTa		NOP56 ribonucleoprotein							81.0	65.0	70.0					20																	2636638		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636638C>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.968C>T	20.37:g.2636638C>T	ENSP00000370589:p.Ala323Val					NOP56_ENST00000492135.1_3'UTR	p.A323V	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			8	1484	+			323			Nop.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.968C>T	CCDS13030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.569305|4.569305	0.86439|0.86439	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000329276;ENST00000381169|ENST00000415272	D|.	0.81579|.	-1.51|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);|.	0.097174|.	0.64402|.	D|.	0.000001|.	D|D	0.91637|0.91637	0.7357|0.7357	H|H	0.99877|0.99877	4.88|4.88	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79108|.	0.992;0.986|.	D|D	0.94971|0.94971	0.8117|0.8117	10|5	0.87932|.	D|.	0|.	-12.1857|-12.1857	14.7342|14.7342	0.69404|0.69404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70;323|.	E9PDI8;O00567|.	.;NOP56_HUMAN|.	V|Y	323;70|64	ENSP00000370589:A323V|.	ENSP00000370589:A323V|.	A|H	+|+	2|1	0|0	NOP56|NOP56	2584638|2584638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.640000|7.640000	0.83355|0.83355	2.532000|2.532000	0.85374|0.85374	0.561000|0.561000	0.74099|0.74099	GCA|CAT		0.557	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		37	196	0	0	0	1	0	37	196				
HHAT	55733	broad.mit.edu	37	1	210796957	210796957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210796957G>T	ENST00000367010.1	+	11	1560	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L|HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000545781.1_Missense_Mutation_p.V382L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	445					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCCAACCTGGTATTTCTTGG	0.483																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1333-1335)Gta>Tta		hedgehog acyltransferase							290.0	273.0	278.0					1																	210796957		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796957G>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1333G>T	1.37:g.210796957G>T	ENSP00000355977:p.Val445Leu					HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000545781.1_Missense_Mutation_p.V382L|HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L	p.V445L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1560	+			445					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1333G>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401967	0.62288	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.46451	2.17;0.87;2.16;2.16;2.13;2.2;2.17;2.2;2.17;0.88	6.06	6.06	0.98353	.	0.065429	0.64402	D	0.000012	T	0.42017	0.1184	L	0.42686	1.345	0.37062	D	0.898122	P;D;P;P;P	0.53745	0.937;0.962;0.894;0.919;0.937	B;P;B;B;B	0.47827	0.239;0.558;0.437;0.327;0.377	T	0.46569	-0.9182	10	0.49607	T	0.09	-28.2492	11.4562	0.50183	0.0812:0.0:0.9188:0.0	.	400;446;308;380;445	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	L	445;308;446;380;445;382;445;400;445;135	ENSP00000416845:V445L;ENSP00000444995:V308L;ENSP00000438468:V446L;ENSP00000442625:V380L;ENSP00000375773:V445L;ENSP00000439229:V382L;ENSP00000261458:V445L;ENSP00000308628:V400L;ENSP00000355977:V445L;ENSP00000355976:V135L	ENSP00000261458:V445L	V	+	1	0	HHAT	208863580	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.638000	0.46562	2.879000	0.98667	0.650000	0.86243	GTA		0.483	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		509	1329	1	0	7.53427e-84	1	9.64898e-84	509	1329				
GOLGB1	2804	broad.mit.edu	37	3	121414124	121414124	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414124G>T	ENST00000340645.5	-	13	5356	c.5231C>A	c.(5230-5232)tCt>tAt	p.S1744Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1749Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1744					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.S1744C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGACATTAAAGACTGAAACTT	0.383																																						ENST00000393667.3																			1	Substitution - Missense(1)	p.S1744C(1)	breast(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5245-5247)tCt>tAt		golgin B1							112.0	109.0	110.0					3																	121414124		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414124G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5231C>A	3.37:g.121414124G>T	ENSP00000341848:p.Ser1744Tyr					GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1744Y	p.S1749Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5356	-			1744					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5246C>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864786	0.00547	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15139	2.45;2.45	5.62	0.644	0.17776	.	0.851473	0.10173	N	0.706812	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	P;P;P;B	0.38711	0.643;0.643;0.643;0.4	B;B;B;B	0.34301	0.179;0.179;0.179;0.169	T	0.24154	-1.0168	10	0.62326	D	0.03	.	1.697	0.02864	0.1462:0.2559:0.3346:0.2633	.	1669;1749;1749;1744	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Y	1744;1749	ENSP00000341848:S1744Y;ENSP00000377275:S1749Y	ENSP00000341848:S1744Y	S	-	2	0	GOLGB1	122896814	0.004000	0.15560	0.023000	0.16930	0.006000	0.05464	0.999000	0.29757	-0.175000	0.10725	-0.309000	0.09137	TCT		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		25	513	1	0	2.98393e-07	1	3.0958e-07	25	513				
GOT1	2805	broad.mit.edu	37	10	101180479	101180479	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101180479T>G	ENST00000370508.5	-	2	229	c.202A>C	c.(202-204)Aat>Cat	p.N68H	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	68					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TACTCGTGATTTAGGCTATTG	0.522																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(202-204)Aat>Cat		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						164.0	155.0	158.0					10																	101180479		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101180479T>G	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.202A>C	10.37:g.101180479T>G	ENSP00000359539:p.Asn68His					GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	p.N68H	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	2	229	-		Ovarian(717;0.028)|Colorectal(252;0.234)	68					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.202A>C	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239518	0.58995	.	.	ENSG00000120053	ENST00000370508;ENST00000543866	D;D	0.90955	-2.76;-2.76	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.85299	2.745	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.45971	0.499;0.499	D	0.93775	0.7078	10	0.87932	D	0	6.6169	15.3757	0.74602	0.0:0.0:0.0:1.0	.	68;68	Q2TU84;P17174	.;AATC_HUMAN	H	68;47	ENSP00000359539:N68H;ENSP00000445578:N47H	ENSP00000359539:N68H	N	-	1	0	GOT1	101170469	1.000000	0.71417	0.920000	0.36463	0.027000	0.11550	7.533000	0.81994	2.326000	0.78906	0.533000	0.62120	AAT		0.522	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		101	428	0	0	0	1	0	101	428				
IBSP	3381	broad.mit.edu	37	4	88732530	88732530	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88732530A>T	ENST00000226284.5	+	7	489	c.422A>T	c.(421-423)aAt>aTt	p.N141I		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	141	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GATATAACAAATAAAGCTACA	0.378																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(421-423)aAt>aTt		integrin-binding sialoprotein							56.0	59.0	58.0					4																	88732530		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732530A>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.422A>T	4.37:g.88732530A>T	ENSP00000226284:p.Asn141Ile						p.N141I	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	489	+		Hepatocellular(203;0.114)	141			Asp/Glu-rich (acidic).			Missense_Mutation	SNP	ENST00000226284.5	37	c.422A>T	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	A	9.778	1.174606	0.21704	.	.	ENSG00000029559	ENST00000226284	T	0.11604	2.76	4.82	-0.215	0.13157	.	1.549700	0.03559	N	0.226805	T	0.13457	0.0326	L	0.43152	1.355	0.09310	N	1	P	0.40731	0.728	B	0.42959	0.403	T	0.34601	-0.9822	10	0.45353	T	0.12	.	7.9182	0.29831	0.6572:0.0:0.3428:0.0	.	141	P21815	SIAL_HUMAN	I	141	ENSP00000226284:N141I	ENSP00000226284:N141I	N	+	2	0	IBSP	88951554	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	0.017000	0.15025	-0.346000	0.07831	AAT		0.378	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			45	192	0	0	0	1	0	45	192				
PLA2G4B	100137049	broad.mit.edu	37	15	42137858	42137858	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42137858C>T	ENST00000452633.1	+	16	1732	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	PLA2G4B_ENST00000458483.1_Silent_p.Y460Y|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.Y691Y|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y|PLA2G4B_ENST00000542534.2_Silent_p.Y691Y			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	460	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCTCTCCCTACGAGGTCGGCT	0.612																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2071-2073)taC>taT									69.0	64.0	66.0					15																	42137858		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42137858C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1380C>T	15.37:g.42137858C>T						JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.Y460Y|PLA2G4B_ENST00000452633.1_Silent_p.Y460Y	p.Y691Y	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			20	2082	+			460			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2073C>T	CCDS45241.1																																																																																				0.612	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		23	299	0	0	0	1	0	23	299				
EPHB4	2050	broad.mit.edu	37	7	100410515	100410515	+	Missense_Mutation	SNP	G	G	A	rs142798266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100410515G>A	ENST00000358173.3	-	12	2440	c.1972C>T	c.(1972-1974)Cgg>Tgg	p.R658W	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.R658W	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	658	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACTCACGCCGCTGCCGCTCC	0.622																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1972-1974)Cgg>Tgg		EPH receptor B4		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	104.0	104.0		1972	1.2	1.0	7	dbSNP_134	104	0,8600		0,0,4300	no	missense	EPHB4	NM_004444.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	658/988	100410515	1,13005	2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100410515G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1972C>T	7.37:g.100410515G>A	ENSP00000350896:p.Arg658Trp					EPHB4_ENST00000360620.3_Missense_Mutation_p.R658W	p.R658W	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			12	2440	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		658			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1972C>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118746	0.56505	2.27E-4	0.0	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.83506	-1.73;-1.73	4.79	1.16	0.20824	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000106	D	0.90521	0.7030	M	0.86343	2.81	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.90445	0.4434	10	0.87932	D	0	.	11.2092	0.48788	0.0:0.0:0.3305:0.6695	.	658;658	Q96L35;P54760	.;EPHB4_HUMAN	W	658	ENSP00000353833:R658W;ENSP00000350896:R658W	ENSP00000350896:R658W	R	-	1	2	EPHB4	100248451	1.000000	0.71417	0.998000	0.56505	0.524000	0.34500	1.874000	0.39568	0.487000	0.27698	0.650000	0.86243	CGG		0.622	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		16	907	0	0	0	1	0	16	907				
CD207	50489	broad.mit.edu	37	2	71062649	71062649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062649C>T	ENST00000410009.3	-	2	208	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	55			A -> V (in dbSNP:rs10489990).		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AGGACGGAGGCGACCAGGACC	0.597																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(163-165)Gcc>Acc		CD207 molecule, langerin							68.0	77.0	74.0					2																	71062649		2110	4230	6340	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71062649C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.163G>A	2.37:g.71062649C>T	ENSP00000386378:p.Ala55Thr						p.A55T	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			2	208	-			55		A -> V (in dbSNP:rs10489990).				Missense_Mutation	SNP	ENST00000410009.3	37	c.163G>A		.	.	.	.	.	.	.	.	.	.	C	10.32	1.317390	0.23908	.	.	ENSG00000116031	ENST00000410009	T	0.04156	3.69	4.87	-2.16	0.07080	.	0.407067	0.21670	N	0.070893	T	0.01730	0.0055	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.43861	-0.9365	10	0.12430	T	0.62	.	1.0347	0.01546	0.1653:0.2023:0.1641:0.4684	.	55	Q9UJ71	CLC4K_HUMAN	T	55	ENSP00000386378:A55T	ENSP00000386378:A55T	A	-	1	0	CD207	70916157	0.001000	0.12720	0.002000	0.10522	0.055000	0.15305	-0.664000	0.05292	-0.119000	0.11830	-0.175000	0.13238	GCC		0.597	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	207	0	0	0	1	0	5	207				
CNOT6L	246175	broad.mit.edu	37	4	78650217	78650217	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650217G>A	ENST00000504123.1	-	10	1173	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	348	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGTCTGCAGCATGAATAGG	0.393																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1042-1044)gCt>gTt		CCR4-NOT transcription complex, subunit 6-like							87.0	83.0	84.0					4																	78650217		1848	4099	5947	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650217G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1043C>T	4.37:g.78650217G>A	ENSP00000424896:p.Ala348Val					CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V	p.A348V			Q96LI5	CNO6L_HUMAN			10	1173	-			348					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1043C>T		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545002	0.45280	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.43688	1.53;1.53;1.68;0.94	5.63	5.63	0.86233	Endonuclease/exonuclease/phosphatase (2);	0.297866	0.37304	N	0.002160	T	0.22742	0.0549	N	0.03154	-0.405	0.40114	D	0.976523	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.14476	-1.0471	10	0.11485	T	0.65	-3.1273	18.444	0.90677	0.0:0.0:1.0:0.0	.	321;348	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	V	348;348;355;123	ENSP00000424896:A348V;ENSP00000264903:A348V;ENSP00000425571:A355V;ENSP00000426320:A123V	ENSP00000264903:A348V	A	-	2	0	CNOT6L	78869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.736000	0.55052	2.653000	0.90120	0.563000	0.77884	GCT		0.393	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			88	354	0	0	0	1	0	88	354				
SOGA1	140710	broad.mit.edu	37	20	35467829	35467829	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35467829G>T	ENST00000357779.3	-	0	315				SOGA1_ENST00000279034.6_De_novo_Start_InFrame|SOGA1_ENST00000237536.4_Missense_Mutation_p.L235M			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1						insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCGGCCCGCAGCTCCTCAATC	0.607																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(703-705)Ctg>Atg		suppressor of glucose, autophagy associated 1							28.0	30.0	29.0					20																	35467829		2099	4232	6331			140710							g.chr20:35467829G>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395		20.37:g.35467829G>T						SOGA1_ENST00000357779.3_De_novo_Start_InFrame|SOGA1_ENST00000279034.5_De_novo_Start_InFrame	p.L235M	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			2	1044	-			617					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.703C>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.064364	0.76187	.	.	ENSG00000149639	ENST00000237536	T	0.33865	1.39	4.86	3.91	0.45181	.	0.000000	0.32301	N	0.006292	T	0.49029	0.1533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	7	0.41790	T	0.15	-12.9197	14.2381	0.65941	0.0:0.1505:0.8495:0.0	.	.	.	.	M	235	ENSP00000237536:L235M	ENSP00000237536:L235M	L	-	1	2	KIAA0889	34901243	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.448000	0.73469	1.255000	0.44051	0.491000	0.48974	CTG		0.607	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		51	170	1	0	3.39706e-21	1	3.82169e-21	51	170				
ZNF292	23036	broad.mit.edu	37	6	87970351	87970351	+	Missense_Mutation	SNP	G	G	A	rs199734102	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970351G>A	ENST00000369577.3	+	8	7047	c.7004G>A	c.(7003-7005)cGa>cAa	p.R2335Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2330Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2335						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGACCAAACGAAAGAAAAAA	0.358													G|||	5	0.000998403	0.0038	0.0	5008	,	,		21507	0.0		0.0	False		,,,				2504	0.0					ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7003-7005)cGa>cAa		zinc finger protein 292		G	GLN/ARG	18,3664		0,18,1823	38.0	41.0	40.0		7004	5.6	1.0	6		40	0,8166		0,0,4083	yes	missense	ZNF292	NM_015021.1	43	0,18,5906	AA,AG,GG		0.0,0.4889,0.1519	probably-damaging	2335/2724	87970351	18,11830	1841	4083	5924	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970351G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7004G>A	6.37:g.87970351G>A	ENSP00000358590:p.Arg2335Gln					ZNF292_ENST00000339907.4_Missense_Mutation_p.R2330Q	p.R2335Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7047	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2335					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.7004G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301151	0.60195	0.004889	0.0	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.54479	3.18;3.19;0.57	5.62	5.62	0.85841	.	0.175405	0.42172	D	0.000744	T	0.61476	0.2350	L	0.51422	1.61	0.34193	D	0.672324	D	0.89917	1.0	D	0.79108	0.992	T	0.59247	-0.7490	10	0.38643	T	0.18	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	2335	O60281	ZN292_HUMAN	Q	2335;2330;253	ENSP00000358590:R2335Q;ENSP00000342847:R2330Q;ENSP00000428857:R253Q	ENSP00000342847:R2330Q	R	+	2	0	ZNF292	88027070	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.499000	0.35671	2.659000	0.90383	0.585000	0.79938	CGA		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		42	170	0	0	0	1	0	42	170				
MMRN2	79812	broad.mit.edu	37	10	88696774	88696774	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88696774T>C	ENST00000372027.5	-	7	2897	c.2576A>G	c.(2575-2577)cAt>cGt	p.H859R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	859	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAAGTAGCCATGTTCAGGGAA	0.562																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(2575-2577)cAt>cGt		multimerin 2							111.0	94.0	100.0					10																	88696774		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88696774T>C	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2576A>G	10.37:g.88696774T>C	ENSP00000361097:p.His859Arg						p.H859R	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			7	2649	-			859			C1q.		Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.2576A>G	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.368757	0.61624	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.74737	-0.87	4.9	4.9	0.64082	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.369029	0.25750	N	0.028548	D	0.85418	0.5692	M	0.80028	2.48	0.36349	D	0.859949	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.968	D	0.89244	0.3586	10	0.51188	T	0.08	-9.9338	13.1707	0.59595	0.0:0.0:0.0:1.0	.	637;859	E7EN39;Q9H8L6	.;MMRN2_HUMAN	R	859;637	ENSP00000361097:H859R	ENSP00000361097:H859R	H	-	2	0	MMRN2	88686754	0.988000	0.35896	0.195000	0.23364	0.970000	0.65996	2.644000	0.46613	1.858000	0.53909	0.456000	0.33151	CAT		0.562	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		16	288	0	0	0	1	0	16	288				
SMC3	9126	broad.mit.edu	37	10	112335133	112335133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112335133G>A	ENST00000361804.4	+	4	296	c.170G>A	c.(169-171)cGt>cAt	p.R57H	SMC3_ENST00000462899.1_3'UTR|snoU13_ENST00000458966.1_RNA	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	57					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTCATCTTCGTCCAGAACAG	0.299																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(169-171)cGt>cAt		structural maintenance of chromosomes 3							134.0	130.0	132.0					10																	112335133		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112335133G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.170G>A	10.37:g.112335133G>A	ENSP00000354720:p.Arg57His					SMC3_ENST00000462899.1_3'UTR	p.R57H	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	4	296	+		Breast(234;0.0848)|Lung NSC(174;0.238)	57					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.170G>A	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823357	0.90873	.	.	ENSG00000108055	ENST00000361804	T	0.77229	-1.08	5.37	5.37	0.77165	RecF/RecN/SMC (1);	0.050875	0.85682	D	0.000000	D	0.89522	0.6739	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90974	0.4822	10	0.87932	D	0	.	16.4957	0.84242	0.0:0.1307:0.8693:0.0	.	57	Q9UQE7	SMC3_HUMAN	H	57	ENSP00000354720:R57H	ENSP00000354720:R57H	R	+	2	0	SMC3	112325123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.323000	0.96364	2.677000	0.91161	0.467000	0.42956	CGT		0.299	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		18	252	0	0	0	1	0	18	252				
FAM83G	644815	broad.mit.edu	37	17	18881887	18881887	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881887G>T	ENST00000388995.6	-	5	1315	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.S364S|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	364					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTTCTCAGAGGAGATCTTGG	0.637																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1090-1092)tcC>tcA		family with sequence similarity 83, member G							55.0	61.0	59.0					17																	18881887		1955	4151	6106	SO:0001819	synonymous_variant	644815							g.chr17:18881887G>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1092C>A	17.37:g.18881887G>T						FAM83G_ENST00000345041.4_Silent_p.S364S|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.S364S			A6ND36	FA83G_HUMAN			5	1315	-			364					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.1092C>A	CCDS42276.1																																																																																				0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			69	296	1	0	5.45122e-27	1	6.30096e-27	69	296				
PLEK	5341	broad.mit.edu	37	2	68607924	68607924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68607924G>A	ENST00000234313.7	+	3	447	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	90	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAGGAGAGAGATGCCTGGGT	0.463																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(268-270)Gat>Aat		pleckstrin							131.0	131.0	131.0					2																	68607924		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607924G>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.268G>A	2.37:g.68607924G>A	ENSP00000234313:p.Asp90Asn						p.D90N	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	447	+		Ovarian(717;0.0129)	90			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.268G>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	35	5.567226	0.96540	.	.	ENSG00000115956	ENST00000234313	T	0.74106	-0.81	5.8	5.8	0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.042262	0.85682	D	0.000000	T	0.79281	0.4419	L	0.37697	1.125	0.80722	D	1	P;P	0.48764	0.915;0.702	P;P	0.55615	0.78;0.738	T	0.80146	-0.1504	10	0.72032	D	0.01	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	108;90	Q59GZ2;P08567	.;PLEK_HUMAN	N	90	ENSP00000234313:D90N	ENSP00000234313:D90N	D	+	1	0	PLEK	68461428	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.750000	0.94351	0.655000	0.94253	GAT		0.463	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		11	812	0	0	0	1	0	11	812				
SDHA	6389	broad.mit.edu	37	5	235284	235284	+	Missense_Mutation	SNP	G	G	A	rs372738835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:235284G>A	ENST00000264932.6	+	9	1205	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	SDHA_ENST00000504309.1_Missense_Mutation_p.V364I|SDHA_ENST00000510361.1_Missense_Mutation_p.V316I	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	364					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAAAGATCACGTCTACCTGCA	0.567									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1090-1092)Gtc>Atc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)	G	ILE/VAL	0,4406		0,0,2203	59.0	53.0	55.0		1090	5.1	1.0	5		55	1,8595		0,1,4297	no	missense	SDHA	NM_004168.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	364/665	235284	1,13001	2203	4298	6501	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:235284G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1090G>A	5.37:g.235284G>A	ENSP00000264932:p.Val364Ile					SDHA_ENST00000510361.1_Missense_Mutation_p.V316I|SDHA_ENST00000504309.1_Missense_Mutation_p.V364I	p.V364I	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		9	1205	+			364					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1090G>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	10.43	1.347429	0.24426	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.71698	-0.59;-0.59;-0.59	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.64402	U	0.000002	T	0.53449	0.1797	N	0.17764	0.52	0.80722	D	1	B;B;B;B;B	0.26602	0.154;0.05;0.002;0.001;0.001	B;B;B;B;B	0.27500	0.08;0.04;0.013;0.009;0.009	T	0.51888	-0.8648	10	0.02654	T	1	.	16.4201	0.83755	0.0:0.0:1.0:0.0	.	316;364;364;364;370	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	I	364;219;364;316	ENSP00000264932:V364I;ENSP00000426514:V364I;ENSP00000427703:V316I	ENSP00000264932:V364I	V	+	1	0	SDHA	288284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.024000	0.93689	2.541000	0.85698	0.557000	0.71058	GTC		0.567	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		30	272	0	0	0	1	0	30	272				
ARHGAP29	9411	broad.mit.edu	37	1	94668169	94668169	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94668169G>A	ENST00000260526.6	-	11	1256	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	ARHGAP29_ENST00000370217.3_Silent_p.G358G	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	358					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGCTAATCCGCCACTTGAAG	0.373																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1072-1074)ggC>ggT		Rho GTPase activating protein 29							143.0	135.0	138.0					1																	94668169		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94668169G>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1074C>T	1.37:g.94668169G>A						ARHGAP29_ENST00000370217.3_Silent_p.G358G	p.G358G	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	11	1256	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	358					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.1074C>T	CCDS748.1																																																																																				0.373	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		132	495	0	0	0	1	0	132	495				
MLLT4	4301	broad.mit.edu	37	6	168352003	168352003	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168352003C>A	ENST00000447894.2	+	29	3948	c.3948C>A	c.(3946-3948)acC>acA	p.T1316T	MLLT4_ENST00000366806.2_Silent_p.T1316T|MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000351017.4_Silent_p.T1323T|MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000392108.3_Silent_p.T1316T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1316					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACTCCAGTACCTCTAGCCAGG	0.512			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3946-3948)acC>acA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							92.0	102.0	99.0					6																	168352003		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352003C>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3948C>A	6.37:g.168352003C>A						MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000447894.2_Silent_p.T1316T|MLLT4_ENST00000392108.3_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000351017.4_Silent_p.T1323T	p.T1316T			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4090	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1316					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.3948C>A																																																																																					0.512	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		111	427	1	0	7.0969e-38	1	8.53581e-38	111	427				
CCDC90B	60492	broad.mit.edu	37	11	82976975	82976975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82976975T>C	ENST00000529689.1	-	8	1075	c.641A>G	c.(640-642)gAc>gGc	p.D214G	CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A|CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G|CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	214						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				AATTTCAGCGTCAATTTTATT	0.338																																						ENST00000529689.1																			0				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(640-642)gAc>gGc		coiled-coil domain containing 90B							139.0	136.0	137.0					11																	82976975		2202	4298	6500	SO:0001583	missense	60492					integral to membrane|mitochondrion		g.chr11:82976975T>C	BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.641A>G	11.37:g.82976975T>C	ENSP00000434724:p.Asp214Gly					CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G|CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A	p.D214G			Q9GZT6	CC90B_HUMAN			8	1075	-		Acute lymphoblastic leukemia(157;0.103)	214					A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	37	c.641A>G	CCDS8266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.876845|4.876845	0.91664|0.91664	.|.	.|.	ENSG00000137500|ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611|ENST00000529073	T;T;T;T|T	0.61627|0.32023	0.09;0.09;0.09;0.09|1.47	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.087407|.	0.85682|.	D|.	0.000000|.	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.88105|0.88105	2.93|2.93	0.32384|0.32384	N|N	0.554177|0.554177	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.73285|0.73285	-0.4031|-0.4031	9|6	.|.	.|.	.|.	-12.0863|-12.0863	15.933|15.933	0.79679|0.79679	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	205;214|.	Q9GZT6-2;Q9GZT6|.	.;CC90B_HUMAN|.	G|A	214;205;113;113|203	ENSP00000434724:D214G;ENSP00000390990:D205G;ENSP00000431424:D113G;ENSP00000431345:D113G|ENSP00000431523:T203A	.|.	D|T	-|-	2|1	0|0	CCDC90B|CCDC90B	82654623|82654623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.044000|7.044000	0.76578|0.76578	2.155000|2.155000	0.67459|0.67459	0.460000|0.460000	0.39030|0.39030	GAC|ACG		0.338	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825		60	301	0	0	0	1	0	60	301				
PTCH1	5727	broad.mit.edu	37	9	98209400	98209400	+	Missense_Mutation	SNP	C	C	T	rs111481152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98209400C>T	ENST00000331920.6	-	23	4437	c.4138G>A	c.(4138-4140)Gcc>Acc	p.A1380T	PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T|PTCH1_ENST00000430669.2_Missense_Mutation_p.A1314T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1380					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGTGCACGGCGACAGTCACG	0.687																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3940-3942)Gcc>Acc		patched 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4402		0,0,2201	26.0	31.0	29.0		4138,3940,4135,3685,3685,3685,3685	5.1	0.1	9	dbSNP_132	29	1,8591		0,1,4295	no	missense,missense,missense,missense,missense,missense,missense	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	58,58,58,58,58,58,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1380/1448,1314/1382,1379/1447,1229/1297,1229/1297,1229/1297,1229/1297	98209400	1,12993	2201	4296	6497	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98209400C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4138G>A	9.37:g.98209400C>T	ENSP00000332353:p.Ala1380Thr					PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000331920.6_Missense_Mutation_p.A1380T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T	p.A1314T			Q13635	PTC1_HUMAN			23	4525	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1380					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3940G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744437	0.69418	0.0	1.16E-4	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.93426	-3.21;-3.17;-3.18;-3.18;-3.17;-3.18;-3.22	5.12	5.12	0.69794	.	0.052411	0.85682	D	0.000000	D	0.93697	0.7986	L	0.55481	1.735	0.80722	D	1	P;D;D	0.60160	0.943;0.987;0.978	B;P;B	0.49637	0.399;0.617;0.413	D	0.94295	0.7532	10	0.72032	D	0.01	-22.9428	18.7592	0.91843	0.0:1.0:0.0:0.0	.	1314;1379;1380	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	T	1380;1314;1229;1229;1314;172;1229;1379	ENSP00000332353:A1380T;ENSP00000389744:A1314T;ENSP00000399981:A1229T;ENSP00000396135:A1229T;ENSP00000410287:A1314T;ENSP00000414823:A1229T;ENSP00000364423:A1379T	ENSP00000332353:A1380T	A	-	1	0	PTCH1	97249221	1.000000	0.71417	0.075000	0.20258	0.104000	0.19210	7.608000	0.82898	2.659000	0.90383	0.655000	0.94253	GCC		0.687	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		17	481	0	0	0	1	0	17	481				
TMEM214	54867	broad.mit.edu	37	2	27262629	27262629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27262629C>A	ENST00000238788.9	+	14	1608	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I	TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	516					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGCCGGTTGCTTCGATCATC	0.597																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1546-1548)Ctt>Att		transmembrane protein 214							150.0	152.0	151.0					2																	27262629		2049	4190	6239	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27262629C>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1546C>A	2.37:g.27262629C>A	ENSP00000238788:p.Leu516Ile					TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	p.L516I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			14	1608	+			516					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.1546C>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937911	0.73557	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135	T;T;T	0.52983	0.64;0.64;0.64	5.59	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.76328	2.33	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.67975	-0.5531	10	0.72032	D	0.01	-12.0634	10.6416	0.45596	0.0:0.8766:0.0:0.1234	.	471;516	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	I	516;471;256;176	ENSP00000238788:L516I;ENSP00000384417:L471I;ENSP00000392442:L176I	ENSP00000238788:L516I	L	+	1	0	TMEM214	27116133	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.541000	0.36126	2.640000	0.89533	0.561000	0.74099	CTT		0.597	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		146	426	1	0	1.09339e-60	1	1.37559e-60	146	426				
EPG5	57724	broad.mit.edu	37	18	43438734	43438734	+	Missense_Mutation	SNP	C	C	A	rs542786306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43438734C>A	ENST00000282041.5	-	41	7057	c.7023G>T	c.(7021-7023)caG>caT	p.Q2341H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2341					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.Q2341H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATCCTGAATTCTGATTGAGAG	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20562	0.0		0.0	False		,,,				2504	0.0					ENST00000282041.5																			1	Substitution - Missense(1)	p.Q2341H(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(7021-7023)caG>caT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							54.0	51.0	52.0					18																	43438734		1856	4109	5965	SO:0001583	missense	57724				autophagy			g.chr18:43438734C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7023G>T	18.37:g.43438734C>A	ENSP00000282041:p.Gln2341His					EPG5_ENST00000585906.1_5'UTR	p.Q2341H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			41	7057	-			2341					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.7023G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682618	0.29872	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.10573	2.86	5.92	-2.62	0.06152	.	.	.	.	.	T	0.08626	0.0214	L	0.43152	1.355	0.22081	N	0.999372	B	0.24920	0.114	B	0.21917	0.037	T	0.34502	-0.9826	9	0.49607	T	0.09	-9.0147	6.6056	0.22724	0.212:0.4535:0.0:0.3344	.	2341	Q9HCE0	EPG5_HUMAN	H	2341;269;1216	ENSP00000282041:Q2341H	ENSP00000282041:Q2341H	Q	-	3	2	EPG5	41692732	0.940000	0.31905	0.113000	0.21522	0.745000	0.42441	0.071000	0.14594	-0.302000	0.08869	-0.367000	0.07326	CAG		0.448	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		46	186	1	0	2.47872e-24	1	2.8326e-24	46	186				
FREM2	341640	broad.mit.edu	37	13	39263542	39263542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263542G>T	ENST00000280481.7	+	1	2277	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	687					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCGGGCTACAGCGGTTTGTGA	0.557																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2059-2061)caG>caT		FRAS1 related extracellular matrix protein 2							85.0	84.0	84.0					13																	39263542		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263542G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2061G>T	13.37:g.39263542G>T	ENSP00000280481:p.Gln687His						p.Q687H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2277	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	687					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2061G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	0.136	-1.108269	0.01813	.	.	ENSG00000150893	ENST00000280481	T	0.26373	1.74	5.97	0.709	0.18150	.	0.217752	0.49916	N	0.000137	T	0.12135	0.0295	N	0.26042	0.785	0.22754	N	0.998775	B	0.02656	0.0	B	0.04013	0.001	T	0.36187	-0.9758	10	0.06099	T	0.92	.	7.0458	0.25044	0.2654:0.2226:0.512:0.0	.	687	Q5SZK8	FREM2_HUMAN	H	687	ENSP00000280481:Q687H	ENSP00000280481:Q687H	Q	+	3	2	FREM2	38161542	0.899000	0.30636	0.853000	0.33588	0.926000	0.56050	1.122000	0.31295	0.136000	0.18733	0.655000	0.94253	CAG		0.557	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		72	422	1	0	9.35569e-46	1	1.14784e-45	72	422				
PDGFRB	5159	broad.mit.edu	37	5	149495413	149495413	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149495413G>T	ENST00000261799.4	-	23	3703	c.3234C>A	c.(3232-3234)ctC>ctA	p.L1078L	CSF1R_ENST00000286301.3_5'Flank	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1078					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCCACCTGGAGCTCAAGCT	0.642			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(3232-3234)ctC>ctA		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						29.0	31.0	30.0					5																	149495413		2203	4298	6501	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149495413G>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3234C>A	5.37:g.149495413G>T							p.L1078L	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	3703	-		all_hematologic(541;0.224)	1078					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.3234C>A	CCDS4303.1																																																																																				0.642	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		6	115	1	0	0.0215528	1	0.0216335	6	115				
COL25A1	84570	broad.mit.edu	37	4	109769940	109769940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109769940C>A	ENST00000399132.1	-	27	1939	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCTGGGATTCCTGGAGATCC	0.353																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1408-1410)gGa>gTa		collagen, type XXV, alpha 1							124.0	111.0	115.0					4																	109769940		1832	4084	5916	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109769940C>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1409G>T	4.37:g.109769940C>A	ENSP00000382083:p.Gly470Val					COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V	p.G470V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	27	1939	-		Hepatocellular(203;0.217)	470			Collagen-like 6.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1409G>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172581	0.38315	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99186	-5.53;-5.53;-5.53	5.01	5.01	0.66863	.	0.106996	0.64402	D	0.000006	D	0.99569	0.9845	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.859;0.999	D	0.97804	1.0246	9	.	.	.	-6.4959	16.4954	0.84238	0.0:1.0:0.0:0.0	.	470;470	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	470;472;451;443;470;400	ENSP00000382083:G470V;ENSP00000382078:G443V;ENSP00000382077:G470V	.	G	-	2	0	COL25A1	109989389	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.635000	0.61332	2.494000	0.84150	0.552000	0.68991	GGA		0.353	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		109	429	1	0	3.60366e-59	1	4.52357e-59	109	429				
LRP3	4037	broad.mit.edu	37	19	33696652	33696652	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696652T>C	ENST00000253193.7	+	5	1178	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	326	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGACGCTGTCCTACCGCAG	0.721																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(976-978)Tcc>Ccc		low density lipoprotein receptor-related protein 3							8.0	11.0	10.0					19																	33696652		2139	4201	6340	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696652T>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.976T>C	19.37:g.33696652T>C	ENSP00000253193:p.Ser326Pro						p.S326P	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1178	+	Esophageal squamous(110;0.137)		326			CUB 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.976T>C	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627330	0.66901	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.18960	2.18	5.02	5.02	0.67125	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.60455	1.87	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.985;0.993;0.985	T	0.26677	-1.0096	10	0.54805	T	0.06	-44.833	13.9237	0.63950	0.0:0.0:0.0:1.0	.	200;326;244	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	P	200;326	ENSP00000253193:S326P	ENSP00000253193:S326P	S	+	1	0	LRP3	38388492	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.917000	0.63369	1.897000	0.54924	0.260000	0.18958	TCC		0.721	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			17	88	0	0	0	1	0	17	88				
OR2W3	343171	broad.mit.edu	37	1	248059435	248059435	+	Missense_Mutation	SNP	G	G	A	rs201811838	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059435G>A	ENST00000360358.3	+	1	547	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	OR2W3_ENST00000537741.1_Missense_Mutation_p.A183T	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A183S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGATGCCCGCCCTGATCCG	0.637													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19525	0.0		0.0	False		,,,				2504	0.0					ENST00000537741.1																			1	Substitution - Missense(1)	p.A183S(1)	lung(1)	breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(547-549)Gcc>Acc		olfactory receptor, family 2, subfamily W, member 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127.0	105.0	112.0		547	2.2	0.0	1		112	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR2W3	NM_001001957.2	58	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	183/315	248059435	4,13002	2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059435G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.547G>A	1.37:g.248059435G>A	ENSP00000353516:p.Ala183Thr					OR2W3_ENST00000360358.3_Missense_Mutation_p.A183T	p.A183T			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	804	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		183					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.547G>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319015	0.41096	2.27E-4	3.49E-4	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00130	8.69;8.69	5.28	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.00271	0.0008	M	0.80332	2.49	0.09310	N	1	D	0.54047	0.964	P	0.51385	0.668	T	0.38564	-0.9655	10	0.66056	D	0.02	.	5.4106	0.16346	0.0813:0.3111:0.4944:0.1132	.	183	Q7Z3T1	OR2W3_HUMAN	T	183	ENSP00000445853:A183T;ENSP00000353516:A183T	ENSP00000353516:A183T	A	+	1	0	OR2W3	246126058	0.000000	0.05858	0.026000	0.17262	0.275000	0.26752	-0.601000	0.05687	0.784000	0.33661	0.603000	0.83216	GCC		0.637	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		96	500	0	0	0	1	0	96	500				
FREM2	341640	broad.mit.edu	37	13	39264866	39264866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264866G>A	ENST00000280481.7	+	1	3601	c.3385G>A	c.(3385-3387)Gca>Aca	p.A1129T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1129					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAATCAAGAGCAGGGATTGC	0.463																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3385-3387)Gca>Aca		FRAS1 related extracellular matrix protein 2							62.0	63.0	63.0					13																	39264866		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264866G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3385G>A	13.37:g.39264866G>A	ENSP00000280481:p.Ala1129Thr						p.A1129T	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3601	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1129					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3385G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621270	0.46736	.	.	ENSG00000150893	ENST00000280481	T	0.37584	1.19	6.07	5.23	0.72850	.	0.104847	0.64402	N	0.000003	T	0.48077	0.1480	M	0.64997	1.995	0.58432	D	0.999998	P	0.52316	0.952	P	0.52598	0.703	T	0.41645	-0.9497	10	0.31617	T	0.26	.	15.2394	0.73455	0.0668:0.0:0.9332:0.0	.	1129	Q5SZK8	FREM2_HUMAN	T	1129	ENSP00000280481:A1129T	ENSP00000280481:A1129T	A	+	1	0	FREM2	38162866	0.982000	0.34865	1.000000	0.80357	0.961000	0.63080	1.718000	0.38001	1.588000	0.49971	0.650000	0.86243	GCA		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		24	252	0	0	0	1	0	24	252				
SLIT2	9353	broad.mit.edu	37	4	20550138	20550138	+	Silent	SNP	G	G	A	rs375099406		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20550138G>A	ENST00000504154.1	+	23	2625	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Silent_p.T787T|SLIT2_ENST00000503823.1_Silent_p.T783T|SLIT2_ENST00000273739.5_Silent_p.T795T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	791					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAATAAGCACGCTTTCTAATC	0.368																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2371-2373)acG>acA		slit homolog 2 (Drosophila)							98.0	94.0	95.0					4																	20550138		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20550138G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2373G>A	4.37:g.20550138G>A						SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Silent_p.T787T|SLIT2_ENST00000273739.5_Silent_p.T795T|SLIT2_ENST00000503823.1_Silent_p.T783T	p.T791T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			23	2625	+			791					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.2373G>A	CCDS3426.1																																																																																				0.368	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			43	187	0	0	0	1	0	43	187				
PRSS54	221191	broad.mit.edu	37	16	58319950	58319950	+	Missense_Mutation	SNP	G	G	A	rs149972398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58319950G>A	ENST00000219301.4	-	5	807	c.413C>T	c.(412-414)gCg>gTg	p.A138V	PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V|PRSS54_ENST00000563336.1_5'Flank|PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	138	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAATGCATCGCTGTGTCTGT	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21355	0.0		0.0	False		,,,				2504	0.0					ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(412-414)gCg>gTg		protease, serine, 54		G	VAL/ALA	0,4396		0,0,2198	279.0	241.0	254.0		413	3.5	0.0	16	dbSNP_134	254	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS54	NM_001080492.1	64	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	138/396	58319950	1,12995	2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58319950G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.413C>T	16.37:g.58319950G>A	ENSP00000219301:p.Ala138Val					PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V|PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V	p.A138V	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			5	807	-			138			Peptidase S1.		Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.413C>T	CCDS32463.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.36	2.213193	0.39102	0.0	1.16E-4	ENSG00000103023	ENST00000219301;ENST00000543437	T;T	0.59906	0.23;0.23	5.5	3.47	0.39725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.437819	0.21555	N	0.072678	T	0.70894	0.3276	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	P	0.62885	0.908	T	0.62656	-0.6808	10	0.54805	T	0.06	-5.0004	11.0333	0.47787	0.0:0.0:0.634:0.366	.	138	Q6PEW0	PRS54_HUMAN	V	138;39	ENSP00000219301:A138V;ENSP00000437705:A39V	ENSP00000219301:A138V	A	-	2	0	PRSS54	56877451	0.018000	0.18449	0.001000	0.08648	0.542000	0.35054	1.985000	0.40668	0.614000	0.30107	-0.284000	0.09977	GCG		0.493	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		56	644	0	0	0	1	0	56	644				
ABTB1	80325	broad.mit.edu	37	3	127394818	127394818	+	Missense_Mutation	SNP	C	C	T	rs147002334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127394818C>T	ENST00000232744.8	+	4	267	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCAGGAGCCCGCTGCGAGGC	0.637																																						ENST00000232744.8																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(181-183)Cgc>Tgc		ankyrin repeat and BTB (POZ) domain containing 1							14.0	16.0	15.0					3																	127394818		2198	4292	6490	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127394818C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.181C>T	3.37:g.127394818C>T	ENSP00000232744:p.Arg61Cys					ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR	p.R61C			Q969K4	ABTB1_HUMAN			4	267	+			61						Missense_Mutation	SNP	ENST00000232744.8	37	c.181C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.939283	0.34189	.	.	ENSG00000114626	ENST00000361019;ENST00000232744	D	0.86366	-2.11	4.71	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.055368	0.64402	D	0.000003	D	0.87916	0.6298	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65773	0.938;0.93	D	0.87236	0.2263	10	0.51188	T	0.08	-5.7025	9.9066	0.41379	0.4822:0.5178:0.0:0.0	.	61;36	Q969K4;Q969K4-3	ABTB1_HUMAN;.	C	34;61	ENSP00000232744:R61C	ENSP00000232744:R61C	R	+	1	0	ABTB1	128877508	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.608000	0.74168	2.156000	0.67533	0.457000	0.33378	CGC		0.637	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		17	108	0	0	0	1	0	17	108				
GLI1	2735	broad.mit.edu	37	12	57860099	57860099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57860099G>T	ENST00000228682.2	+	8	930	c.839G>T	c.(838-840)aGg>aTg	p.R280M	GLI1_ENST00000546141.1_Missense_Mutation_p.R239M|GLI1_ENST00000543426.1_Missense_Mutation_p.R152M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	280					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGGGAGCTGAGGCCCTTCAAA	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(838-840)aGg>aTg		GLI family zinc finger 1							106.0	100.0	102.0					12																	57860099		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860099G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.839G>T	12.37:g.57860099G>T	ENSP00000228682:p.Arg280Met					GLI1_ENST00000543426.1_Missense_Mutation_p.R152M|GLI1_ENST00000546141.1_Missense_Mutation_p.R239M	p.R280M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	930	+			280					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.839G>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116063	0.77323	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;D;D;D;D	0.94092	0.54;-3.35;-3.35;-3.35;-3.35	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	D	0.95079	0.8406	L	0.49455	1.56	0.54753	D	0.999982	D	0.54397	0.966	D	0.66847	0.947	D	0.95639	0.8696	10	0.87932	D	0	.	15.6904	0.77446	0.0:0.0:1.0:0.0	.	280	P08151	GLI1_HUMAN	M	152;152;280;239;239;152	ENSP00000436671:R152M;ENSP00000437607:R152M;ENSP00000228682:R280M;ENSP00000441006:R239M;ENSP00000434408:R239M	ENSP00000228682:R280M	R	+	2	0	GLI1	56146366	0.997000	0.39634	1.000000	0.80357	0.866000	0.49608	2.340000	0.43974	2.295000	0.77249	0.655000	0.94253	AGG		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		156	609	1	0	4.34486e-62	1	5.47472e-62	156	609				
PTPN11	5781	broad.mit.edu	37	12	112919958	112919958	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112919958C>T	ENST00000351677.2	+	10	1371	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	PTPN11_ENST00000392597.1_Silent_p.S391S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	391	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCAAAGAAAGCGCCGCTCATG	0.398			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1171-1173)agC>agT		protein tyrosine phosphatase, non-receptor type 11							93.0	87.0	89.0					12																	112919958		2203	4298	6501	SO:0001819	synonymous_variant	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112919958C>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1173C>T	12.37:g.112919958C>T						PTPN11_ENST00000392597.1_Silent_p.S391S	p.S391S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			10	1371	+			391			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	c.1173C>T	CCDS9163.1																																																																																				0.398	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			85	407	0	0	0	1	0	85	407				
NKX2-8	26257	broad.mit.edu	37	14	37050665	37050665	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37050665C>T	ENST00000258829.5	-	2	379	c.162G>A	c.(160-162)tcG>tcA	p.S54S		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	54					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TGCTCTCGTCCGAGGCTAGGG	0.706																																						ENST00000258829.5																			0				upper_aerodigestive_tract(1)	1						c.(160-162)tcG>tcA		NK2 homeobox 8							6.0	7.0	7.0					14																	37050665		1994	4134	6128	SO:0001819	synonymous_variant	26257				liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:37050665C>T		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"""Homeoboxes / ANTP class : NKL subclass"""	16364	protein-coding gene	gene with protein product		603245	"""NK-2 homolog H (Drosophila)"", ""NK2 transcription factor related, locus 8 (Drosophila)"""	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.162G>A	14.37:g.37050665C>T							p.S54S	NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)	2	379	-	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		54					Q8IUT7	Silent	SNP	ENST00000258829.5	37	c.162G>A	CCDS9660.1																																																																																				0.706	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071844.6			9	54	0	0	0	1	0	9	54				
KIF9	64147	broad.mit.edu	37	3	47299019	47299019	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47299019T>G	ENST00000265529.3	-	11	1693	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Missense_Mutation_p.K338T|KIF9_ENST00000444589.2_Missense_Mutation_p.K338T			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	338	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTGACTAGCTTCATCCTGCT	0.507																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1012-1014)aAg>aCg		kinesin family member 9							175.0	144.0	155.0					3																	47299019		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47299019T>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1013A>C	3.37:g.47299019T>G	ENSP00000265529:p.Lys338Thr					KIF9_ENST00000444589.2_Missense_Mutation_p.K338T|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000265529.3_Missense_Mutation_p.K338T|KIF9_ENST00000487440.1_5'UTR	p.K338T	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	1370	-		Acute lymphoblastic leukemia(5;0.164)	338					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1013A>C	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248045	0.80024	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.47	5.47	0.80525	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.69248	2.105	0.52501	D	0.999959	P;D	0.55385	0.856;0.971	P;P	0.50270	0.631;0.636	T	0.82218	-0.0566	10	0.46703	T	0.11	.	14.5097	0.67776	0.0:0.0:0.0:1.0	.	338;338	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	T	338;338;338;338;245	ENSP00000333942:K338T;ENSP00000265529:K338T;ENSP00000414987:K338T;ENSP00000391100:K338T;ENSP00000292334:K245T	ENSP00000265529:K338T	K	-	2	0	KIF9	47274023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.476000	0.60216	2.296000	0.77279	0.533000	0.62120	AAG		0.507	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			70	360	0	0	0	1	0	70	360				
SSPO	23145	broad.mit.edu	37	7	149479934	149479934	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149479934G>T	ENST00000378016.2	+	0	1900							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTTCCAGGAGCTGTGCT	0.607																																						ENST00000378016.2																			0													SCO-spondin							36.0	40.0	38.0					7																	149479934		2079	4194	6273			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149479934G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149479934G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1900	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	161	1	0	3.86212e-05	1	3.93988e-05	8	161				
TOP3A	7156	broad.mit.edu	37	17	18181033	18181033	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18181033T>C	ENST00000321105.5	-	18	2997	c.2783A>G	c.(2782-2784)cAg>cGg	p.Q928R	TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R|TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	928					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCACACTGCTGCTCTCTCGG	0.582																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2782-2784)cAg>cGg		topoisomerase (DNA) III alpha							131.0	115.0	120.0					17																	18181033		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181033T>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2783A>G	17.37:g.18181033T>C	ENSP00000321636:p.Gln928Arg					TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R|TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R	p.Q928R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2997	-			928					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2783A>G	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705739	0.48412	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.22539	1.95;1.95;1.95	5.65	5.65	0.86999	Zinc finger, GRF-type (1);	0.101533	0.64402	D	0.000001	T	0.28034	0.0691	L	0.52364	1.645	0.80722	D	1	P;P	0.49307	0.922;0.656	P;B	0.46850	0.529;0.424	T	0.01215	-1.1416	10	0.39692	T	0.17	-10.0837	15.8707	0.79117	0.0:0.0:0.0:1.0	.	833;928	B4DK80;Q13472	.;TOP3A_HUMAN	R	928;458;833	ENSP00000321636:Q928R;ENSP00000446425:Q458R;ENSP00000442336:Q833R	ENSP00000321636:Q928R	Q	-	2	0	TOP3A	18121758	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.918000	0.69996	2.162000	0.67917	0.448000	0.29417	CAG		0.582	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			78	498	0	0	0	1	0	78	498				
DCT	1638	broad.mit.edu	37	13	95131562	95131562	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131562G>A	ENST00000377028.5	-	0	361				DCT_ENST00000446125.1_De_novo_Start_InFrame	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase						cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		tgtctctgtcgtacttttctc	0.388																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50								dopachrome tautomerase																																						1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95131562G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206		13.37:g.95131562G>A						DCT_ENST00000446125.1_De_novo_Start_InFrame		NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	0	361	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)						Q09GT4	Translation_Start_Site	SNP	ENST00000377028.5	37		CCDS9470.1																																																																																				0.388	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			10	46	0	0	0	1	0	10	46				
SRGAP1	57522	broad.mit.edu	37	12	64474125	64474125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64474125C>A	ENST00000355086.3	+	10	1907	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D461E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	461	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCAAACATGACTTGCTGCAGA	0.358																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1381-1383)gaC>gaA		SLIT-ROBO Rho GTPase activating protein 1							68.0	64.0	65.0					12																	64474125		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64474125C>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1383C>A	12.37:g.64474125C>A	ENSP00000347198:p.Asp461Glu					RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D461E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E	p.D461E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	10	1907	+			461					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1383C>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822365	0.50739	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.18657	3.12;2.79;2.2	4.32	3.44	0.39384	.	0.000000	0.36815	U	0.002397	T	0.20292	0.0488	N	0.17764	0.52	0.54753	D	0.999988	P;B;B	0.47545	0.897;0.168;0.429	P;B;B	0.54924	0.764;0.192;0.263	T	0.02464	-1.1155	9	.	.	.	.	8.0206	0.30406	0.0:0.7507:0.0:0.2493	.	461;421;461	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	E	461;461;421	ENSP00000347198:D461E;ENSP00000350480:D461E;ENSP00000437948:D421E	.	D	+	3	2	SRGAP1	62760392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.348000	0.33987	1.421000	0.47157	0.555000	0.69702	GAC		0.358	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			8	214	1	0	0.0477658	1	0.0478703	8	214				
SPHKAP	80309	broad.mit.edu	37	2	228881170	228881170	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881170T>A	ENST00000392056.3	-	7	4446	c.4400A>T	c.(4399-4401)gAt>gTt	p.D1467V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1467						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCACCACATCTGGGATGTT	0.512																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4399-4401)gAt>gTt		SPHK1 interactor, AKAP domain containing							142.0	141.0	142.0					2																	228881170		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881170T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4400A>T	2.37:g.228881170T>A	ENSP00000375909:p.Asp1467Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	p.D1467V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4446	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1467					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4400A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502609	0.26949	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.59	5.66	2.01	0.26516	.	0.779472	0.12553	N	0.458917	T	0.11665	0.0284	L	0.60455	1.87	0.21719	N	0.999572	B;P;B	0.47409	0.059;0.895;0.216	B;B;B	0.37943	0.013;0.261;0.049	T	0.20140	-1.0284	10	0.36615	T	0.2	.	5.2171	0.15348	0.0:0.1549:0.1519:0.6932	.	498;1467;1467	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1467	ENSP00000375909:D1467V;ENSP00000339886:D1467V	ENSP00000339886:D1467V	D	-	2	0	SPHKAP	228589414	0.633000	0.27181	0.006000	0.13384	0.007000	0.05969	1.138000	0.31491	0.403000	0.25479	-1.209000	0.01634	GAT		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		213	573	0	0	0	1	0	213	573				
TLN2	83660	broad.mit.edu	37	15	63029241	63029241	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63029241C>T	ENST00000561311.1	+	28	3753	c.3523C>T	c.(3523-3525)Ctg>Ttg	p.L1175L	TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1175	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCCTGATTGCACC	0.547																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3523-3525)Ctg>Ttg		talin 2							65.0	60.0	61.0					15																	63029241		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63029241C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3523C>T	15.37:g.63029241C>T						TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR	p.L1175L			Q9Y4G6	TLN2_HUMAN			28	3753	+			1175			Ala-rich.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.3523C>T	CCDS32261.1																																																																																				0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			20	235	0	0	0	1	0	20	235				
IKZF2	22807	broad.mit.edu	37	2	213878658	213878658	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213878658A>G	ENST00000434687.1	-	8	1022	c.713T>C	c.(712-714)gTa>gCa	p.V238A	IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Splice_Site_p.V238A|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Splice_Site_p.V212A|IKZF2_ENST00000451136.2_Splice_Site_p.V166A|IKZF2_ENST00000342002.2_Splice_Site_p.V244A|IKZF2_ENST00000374327.4_Splice_Site_p.V93A|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	238					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATAGGAGGTACTATACAAAA	0.378																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e7-1		IKAROS family zinc finger 2 (Helios)							84.0	84.0	84.0					2																	213878658		2203	4300	6503	SO:0001630	splice_region_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213878658A>G	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.713-1T>C	2.37:g.213878658A>G						IKZF2_ENST00000451136.2_Splice_Site_p.V166_splice|IKZF2_ENST00000434687.1_Splice_Site_p.V238_splice|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Splice_Site_p.V212_splice|IKZF2_ENST00000374327.4_Splice_Site_p.V93_splice|IKZF2_ENST00000342002.2_Splice_Site_p.V244_splice|IKZF2_ENST00000421754.2_Intron	p.V238_splice	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	7	881	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	238					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Splice_Site	SNP	ENST00000434687.1	37	c.712_splice	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585743	0.28268	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.13307	3.32;3.28;3.32;3.33;3.31;2.6	5.4	5.4	0.78164	.	0.169511	0.40818	N	0.001012	T	0.25005	0.0607	L	0.47716	1.5	0.80722	D	1	D;B;B;B;P	0.61697	0.99;0.0;0.001;0.002;0.877	D;B;B;B;P	0.73380	0.98;0.001;0.003;0.001;0.728	T	0.03852	-1.0998	10	0.02654	T	1	.	14.2769	0.66187	1.0:0.0:0.0:0.0	.	166;93;212;238;16	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	A	238;244;238;212;166;93	ENSP00000410447:V238A;ENSP00000342876:V244A;ENSP00000412869:V238A;ENSP00000363439:V212A;ENSP00000395203:V166A;ENSP00000363447:V93A	ENSP00000342876:V244A	V	-	2	0	IKZF2	213586903	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.779000	0.62375	2.171000	0.68590	0.459000	0.35465	GTA		0.378	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	Missense_Mutation	59	324	0	0	0	1	0	59	324				
KIR2DL3	3804	broad.mit.edu	37	19	55263116	55263116	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55263116T>C	ENST00000342376.3	+	6	762	c.731T>C	c.(730-732)cTg>cCg	p.L244P	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	244					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCCAGACACCTGCATGTTCTG	0.438																																						ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(730-732)cTg>cCg		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							168.0	146.0	154.0					19																	55263116		1419	2575	3994	SO:0001583	missense	3804							g.chr19:55263116T>C	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.731T>C	19.37:g.55263116T>C	ENSP00000342215:p.Leu244Pro					KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	p.L244P	NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	6	762	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.731T>C	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	T	5.182	0.219131	0.09863	.	.	ENSG00000243772	ENST00000342376	T	0.00542	6.69	0.635	0.635	0.17723	.	.	.	.	.	T	0.02888	0.0086	H	0.94698	3.57	0.09310	N	1	P;D;D;D	0.89917	0.568;0.991;1.0;1.0	B;D;D;D	0.91635	0.355;0.991;0.999;0.999	T	0.14952	-1.0454	8	0.87932	D	0	.	.	.	.	.	244;146;244;244	E3NZD7;P43628-2;P43628;E3NZD8	.;.;KI2L3_HUMAN;.	P	244	ENSP00000342215:L244P	ENSP00000342215:L244P	L	+	2	0	KIR2DL3	59954928	0.001000	0.12720	0.004000	0.12327	0.012000	0.07955	0.104000	0.15313	0.516000	0.28340	0.248000	0.18094	CTG		0.438	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			35	879	0	0	0	1	0	35	879				
ERICH3	127254	broad.mit.edu	37	1	75037224	75037224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75037224C>A	ENST00000326665.5	-	14	4388	c.4170G>T	c.(4168-4170)caG>caT	p.Q1390H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1390	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAACTCATCCTGTTGGTGCC	0.517																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4168-4170)caG>caT		chromosome 1 open reading frame 173							103.0	100.0	101.0					1																	75037224		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037224C>A																												ENST00000326665.5:c.4170G>T	1.37:g.75037224C>A	ENSP00000322609:p.Gln1390His					C1orf173_ENST00000433746.2_5'UTR	p.Q1390H	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4388	-			1390			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4170G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161345	0.21538	.	.	ENSG00000178965	ENST00000326665	T	0.12569	2.67	4.73	0.676	0.17958	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.28584	0.216	B	0.34385	0.181	T	0.45585	-0.9251	9	0.46703	T	0.11	-1.062	8.0007	0.30295	0.0:0.5457:0.0:0.4543	.	1390	Q5RHP9	CA173_HUMAN	H	1390	ENSP00000322609:Q1390H	ENSP00000322609:Q1390H	Q	-	3	2	C1orf173	74809812	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.087000	0.14958	0.081000	0.16988	0.561000	0.74099	CAG		0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			116	537	1	0	4.46965e-45	1	5.47738e-45	116	537				
FAM20A	54757	broad.mit.edu	37	17	66533665	66533665	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66533665C>A	ENST00000592554.1	-	11	2301	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	527					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AACTGTTCCACTGGGCCGTCG	0.572																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(1579-1581)Gtg>Ttg		family with sequence similarity 20, member A							68.0	55.0	59.0					17																	66533665		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66533665C>A	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1579G>T	17.37:g.66533665C>A	ENSP00000468308:p.Val527Leu					FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.V527L	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			11	2301	-	Breast(10;1.64e-13)		527					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.1579G>T	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377848	0.24944	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.51	1.0	0.19881	.	1.436550	0.03551	N	0.225445	T	0.26991	0.0661	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15521	-1.0434	9	0.28530	T	0.3	3.9634	3.8588	0.08986	0.1154:0.524:0.1039:0.2567	.	527;382	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	L	527;131	.	ENSP00000226094:V527L	V	-	1	0	FAM20A	64045260	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-1.052000	0.03503	0.687000	0.31509	0.484000	0.47621	GTG		0.572	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		32	71	1	0	2.61193e-14	1	2.83483e-14	32	71				
SYNE3	161176	broad.mit.edu	37	14	95921720	95921720	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95921720G>T	ENST00000334258.5	-	5	1145	c.1131C>A	c.(1129-1131)cgC>cgA	p.R377R	SYNE3_ENST00000557275.1_Silent_p.R377R|SYNE3_ENST00000553340.1_Silent_p.R377R|SYNE3_ENST00000554873.1_Silent_p.R134R	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	377					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TTACCGAGTAGCGTCTCCAGT	0.642																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1129-1131)cgC>cgA		spectrin repeat containing, nuclear envelope family member 3							28.0	31.0	30.0					14																	95921720		2202	4299	6501	SO:0001819	synonymous_variant	161176							g.chr14:95921720G>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1131C>A	14.37:g.95921720G>T						SYNE3_ENST00000557275.1_Silent_p.R377R|SYNE3_ENST00000553340.1_Silent_p.R377R|SYNE3_ENST00000554873.1_Silent_p.R134R	p.R377R	NM_152592.3	NP_689805.3					5	1145	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.1131C>A	CCDS9935.1																																																																																				0.642	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		34	164	1	0	4.31634e-10	1	4.56678e-10	34	164				
MOCOS	55034	broad.mit.edu	37	18	33795562	33795562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33795562G>A	ENST00000261326.5	+	8	1440	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATACATGTCGACGCTGGATG	0.542																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1417-1419)tcG>tcA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						72.0	71.0	71.0					18																	33795562		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33795562G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1419G>A	18.37:g.33795562G>A							p.S473S	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			8	1440	+			473						Silent	SNP	ENST00000261326.5	37	c.1419G>A	CCDS11919.1																																																																																				0.542	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			36	191	0	0	0	1	0	36	191				
VCPIP1	80124	broad.mit.edu	37	8	67577597	67577597	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577597T>G	ENST00000310421.4	-	1	1855	c.1597A>C	c.(1597-1599)Agt>Cgt	p.S533R	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	533					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GTTAGGTTACTCATTCCATAG	0.418																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1597-1599)Agt>Cgt		valosin containing protein (p97)/p47 complex interacting protein 1							196.0	191.0	192.0					8																	67577597		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577597T>G	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1597A>C	8.37:g.67577597T>G	ENSP00000309031:p.Ser533Arg						p.S533R	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1855	-		Lung NSC(129;0.142)|all_lung(136;0.227)	533					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1597A>C	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867346	0.51588	.	.	ENSG00000175073	ENST00000310421	T	0.33438	1.41	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	L	0.46157	1.445	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.44847	-0.9301	10	0.51188	T	0.08	-10.8549	15.2357	0.73430	0.0:0.0:0.0:1.0	.	533	Q96JH7	VCIP1_HUMAN	R	533	ENSP00000309031:S533R	ENSP00000309031:S533R	S	-	1	0	VCPIP1	67740151	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.040000	0.89188	1.988000	0.58038	0.528000	0.53228	AGT		0.418	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			19	1150	0	0	0	1	0	19	1150				
SLC5A7	60482	broad.mit.edu	37	2	108609485	108609485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609485C>T	ENST00000264047.2	+	4	626	c.350C>T	c.(349-351)cCg>cTg	p.P117L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	117					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGTTAGACCCGTTTCAGCAA	0.423																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(349-351)cCg>cTg		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						148.0	148.0	148.0					2																	108609485		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108609485C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.350C>T	2.37:g.108609485C>T	ENSP00000264047:p.Pro117Leu					SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	p.P117L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			4	626	+			117					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.350C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	35	5.509118	0.96386	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.86030	-2.06;-2.06;-2.06	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93150	0.6549	10	0.34782	T	0.22	-2.5788	20.8598	0.99761	0.0:1.0:0.0:0.0	.	117	Q9GZV3	SC5A7_HUMAN	L	117;12;117	ENSP00000387346:P117L;ENSP00000445351:P12L;ENSP00000264047:P117L	ENSP00000264047:P117L	P	+	2	0	SLC5A7	107975917	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCG		0.423	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			182	506	0	0	0	1	0	182	506				
IL6ST	3572	broad.mit.edu	37	5	55237234	55237234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237234C>T	ENST00000381298.2	-	17	2745	c.2433G>A	c.(2431-2433)agG>agA	p.R811R	IL6ST_ENST00000336909.5_Silent_p.R811R|IL6ST_ENST00000381294.3_Silent_p.R750R|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Silent_p.R811R|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	811					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTACTGTTGCCTGGGCAAAA	0.433			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2431-2433)agG>agA		interleukin 6 signal transducer (gp130, oncostatin M receptor)							95.0	97.0	96.0					5																	55237234		2203	4300	6503	SO:0001819	synonymous_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237234C>T	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2433G>A	5.37:g.55237234C>T						CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000502326.3_Silent_p.R811R|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.R811R|IL6ST_ENST00000381294.3_Silent_p.R750R|IL6ST_ENST00000381287.4_3'UTR	p.R811R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2745	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	811					A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	c.2433G>A	CCDS3971.1																																																																																				0.433	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		128	538	0	0	0	1	0	128	538				
BTBD11	121551	broad.mit.edu	37	12	107937870	107937870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937870G>A	ENST00000280758.5	+	3	1972	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E482K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E482K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	482						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATGGAATGGGAAAACCCCAA	0.582																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1444-1446)Gaa>Aaa		BTB (POZ) domain containing 11							66.0	58.0	61.0					12																	107937870		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107937870G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1444G>A	12.37:g.107937870G>A	ENSP00000280758:p.Glu482Lys					BTBD11_ENST00000420571.2_Missense_Mutation_p.E482K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E482K	p.E482K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	1972	+			482					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1444G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857972	0.91433	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.48522	1.22;1.29;1.26;0.82;0.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.65882	-0.6060	10	0.32370	T	0.25	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	482;482;482	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	482;482;482;113;116	ENSP00000280758:E482K;ENSP00000413889:E482K;ENSP00000447319:E482K;ENSP00000447606:E113K;ENSP00000407416:E116K	ENSP00000280758:E482K	E	+	1	0	BTBD11	106462000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.666000	0.90696	0.655000	0.94253	GAA		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		7	272	0	0	0	1	0	7	272				
PAQR8	85315	broad.mit.edu	37	6	52268422	52268422	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268422G>A	ENST00000442253.2	+	2	585	c.411G>A	c.(409-411)gaG>gaA	p.E137E	PAQR8_ENST00000360726.3_Silent_p.E137E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	137					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCAAGTCAGAGCTCTCCCACT	0.542																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(409-411)gaG>gaA		progestin and adipoQ receptor family member VIII							161.0	137.0	145.0					6																	52268422		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268422G>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.411G>A	6.37:g.52268422G>A						PAQR8_ENST00000360726.3_Silent_p.E137E	p.E137E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	585	+	Lung NSC(77;0.0875)		137					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.411G>A	CCDS4941.1																																																																																				0.542	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		128	477	0	0	0	1	0	128	477				
MAPKBP1	23005	broad.mit.edu	37	15	42116132	42116132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116132C>T	ENST00000456763.2	+	30	4300	c.4104C>T	c.(4102-4104)ccC>ccT	p.P1368P	MAPKBP1_ENST00000457542.2_Silent_p.P1362P|MAPKBP1_ENST00000260357.7_Silent_p.P1201P|MAPKBP1_ENST00000514566.1_Intron|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.P1245P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1368										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCAGCAGCCCCTGTGCCCAGC	0.607																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4084-4086)ccC>ccT		mitogen-activated protein kinase binding protein 1							54.0	62.0	59.0					15																	42116132		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42116132C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4104C>T	15.37:g.42116132C>T						MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000260357.7_Silent_p.P1201P|MAPKBP1_ENST00000221214.6_Silent_p.P1245P|MAPKBP1_ENST00000456763.2_Silent_p.P1368P	p.P1362P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	29	4372	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1368					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.4086C>T	CCDS45239.1																																																																																				0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		110	505	0	0	0	1	0	110	505				
TUBA8	51807	broad.mit.edu	37	22	18609586	18609586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609586G>A	ENST00000330423.3	+	4	914	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	TUBA8_ENST00000316027.6_Missense_Mutation_p.A215T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	281					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGCCGAGAAAGCCTATCACGA	0.582																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(841-843)Gcc>Acc		tubulin, alpha 8							113.0	92.0	99.0					22																	18609586		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609586G>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.841G>A	22.37:g.18609586G>A	ENSP00000333326:p.Ala281Thr					TUBA8_ENST00000316027.6_Missense_Mutation_p.A215T	p.A281T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			4	914	+			281					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.841G>A	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.183629	0.78677	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.82081	-1.57;-1.57;-1.57	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.96048	3.76	0.80722	D	1	P;P;B	0.49783	0.91;0.928;0.064	P;P;B	0.51945	0.569;0.685;0.058	D	0.94254	0.7496	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	215;305;281	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	215;281;305	ENSP00000318575:A215T;ENSP00000333326:A281T;ENSP00000412646:A305T	ENSP00000318575:A215T	A	+	1	0	TUBA8	16989586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GCC		0.582	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		112	453	0	0	0	1	0	112	453				
FBXL18	80028	broad.mit.edu	37	7	5521531	5521531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5521531C>T	ENST00000382368.3	-	5	2155	c.2032G>A	c.(2032-2034)Gtc>Atc	p.V678I	AC092171.4_ENST00000444210.2_lincRNA	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGAAGATGACGACGTTTAAC	0.632																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(2032-2034)Gtc>Atc		F-box and leucine-rich repeat protein 18							73.0	83.0	80.0					7																	5521531		2056	4180	6236	SO:0001583	missense	80028							g.chr7:5521531C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.2032G>A	7.37:g.5521531C>T	ENSP00000371805:p.Val678Ile						p.V678I	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	5	2155	-		Ovarian(82;0.0607)	0					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.2032G>A	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.93|19.93	3.918844|3.918844	0.73098|0.73098	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000297035|ENST00000382368	.|T	.|0.52295	.|0.67	4.83|4.83	3.95|3.95	0.45737|0.45737	.|.	.|.	.|.	.|.	.|.	T|T	0.41743|0.41743	0.1172|0.1172	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.46110	.|0.504	T|T	0.19811|0.19811	-1.0294|-1.0294	5|8	0.87932|0.32370	D|T	0|0.25	.|.	8.5691|8.5691	0.33558|0.33558	0.0:0.7655:0.1521:0.0824|0.0:0.7655:0.1521:0.0824	.|.	.|678	.|Q96ME1-4	.|.	H|I	237|678	.|ENSP00000371805:V678I	ENSP00000297035:R237H|ENSP00000371805:V678I	R|V	-|-	2|1	0|0	FBXL18|FBXL18	5488057|5488057	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.845000|0.845000	0.48019|0.48019	3.693000|3.693000	0.54735|0.54735	1.167000|1.167000	0.42706|0.42706	-0.294000|-0.294000	0.09567|0.09567	CGT|GTC		0.632	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		107	550	0	0	0	1	0	107	550				
CENPB	1059	broad.mit.edu	37	20	3765499	3765499	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3765499A>G	ENST00000379751.4	-	1	1838	c.1632T>C	c.(1630-1632)ttT>ttC	p.F544F	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	544	Homodimerization.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TGGCCTCCCCAAAGCTGGGTA	0.527																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(1630-1632)ttT>ttC		centromere protein B, 80kDa							200.0	150.0	167.0					20																	3765499		2203	4300	6503	SO:0001819	synonymous_variant	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3765499A>G	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1632T>C	20.37:g.3765499A>G							p.F544F	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	1838	-			544					Q96EI4	Silent	SNP	ENST00000379751.4	37	c.1632T>C	CCDS13064.1																																																																																				0.527	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		7	185	0	0	0	1	0	7	185				
TROAP	10024	broad.mit.edu	37	12	49718041	49718041	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49718041G>A	ENST00000257909.3	+	3	413				TROAP_ENST00000549275.1_Missense_Mutation_p.S64N|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000547923.1_5'Flank|TROAP_ENST00000549534.1_3'UTR|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000380327.5_3'UTR|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000548311.1_Missense_Mutation_p.S122N	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						tgtaatcacagctactcagga	0.493																																						ENST00000548311.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(364-366)aGc>aAc		trophinin associated protein							31.0	31.0	31.0					12																	49718041		2007	4190	6197	SO:0001627	intron_variant	10024				cell adhesion	cytoplasm		g.chr12:49718041G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.337+221G>A	12.37:g.49718041G>A						RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549275.1_Missense_Mutation_p.S64N|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000380327.5_3'UTR|TROAP_ENST00000257909.3_Intron	p.S122N	NM_001278324.1	NP_001265253.1	Q12815	TROAP_HUMAN			4	465	+			0					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.365G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	5.239	0.229644	0.09916	.	.	ENSG00000135451	ENST00000549275;ENST00000548311	.	.	.	0.829	-0.668	0.11392	.	.	.	.	.	T	0.26955	0.0660	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	7	0.87932	D	0	.	3.0041	0.06023	0.5709:0.0:0.4291:0.0	.	122	F8VSF9	.	N	64;122	.	ENSP00000448313:S122N	S	+	2	0	TROAP	48004308	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	-0.330000	0.07925	-0.267000	0.09325	0.313000	0.20887	AGC		0.493	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		19	106	0	0	0	1	0	19	106				
ALDOB	229	broad.mit.edu	37	9	104193076	104193076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104193076C>T	ENST00000374855.4	-	2	218	c.94G>A	c.(94-96)Gct>Act	p.A32T	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	32					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCATCTGCAGCCAGGATCCCC	0.428																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(94-96)Gct>Act		aldolase B, fructose-bisphosphate							110.0	96.0	100.0					9																	104193076		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104193076C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.94G>A	9.37:g.104193076C>T	ENSP00000363988:p.Ala32Thr					ALDOB_ENST00000468981.2_5'UTR	p.A32T	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			2	218	-		Acute lymphoblastic leukemia(62;0.0559)	32					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.94G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243158	0.95272	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.93547	-3.24	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.82433	2.59	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.96813	0.9598	10	0.62326	D	0.03	-18.5194	19.045	0.93016	0.0:1.0:0.0:0.0	.	32	P05062	ALDOB_HUMAN	T	32	ENSP00000363988:A32T	ENSP00000363988:A32T	A	-	1	0	ALDOB	103232897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GCT		0.428	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			46	203	0	0	0	1	0	46	203				
PLPPR4	9890	broad.mit.edu	37	1	99771377	99771377	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771377G>A	ENST00000370185.3	+	7	1600	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E|LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		368					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAGTGATGGAATTGCTCAT	0.448																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1102-1104)gGa>gAa									120.0	116.0	117.0					1																	99771377		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771377G>A																												ENST00000370185.3:c.1103G>A	1.37:g.99771377G>A	ENSP00000359204:p.Gly368Glu					LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E|LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E	p.G368E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1600	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	368					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1103G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.584365	0.00872	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.20069	2.68;2.71;2.1	5.62	5.62	0.85841	.	1.058360	0.07212	N	0.859466	T	0.10937	0.0267	N	0.12182	0.205	0.44562	D	0.997521	P;B	0.49783	0.928;0.276	P;B	0.47573	0.55;0.142	T	0.19160	-1.0314	9	.	.	.	-21.9674	15.9536	0.79861	0.0:0.1349:0.8651:0.0	.	310;368	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	368;310;368;210	ENSP00000359204:G368E;ENSP00000394913:G310E;ENSP00000359203:G210E	.	G	+	2	0	RP4-788L13.1	99543965	1.000000	0.71417	0.997000	0.53966	0.152000	0.21847	5.988000	0.70579	2.633000	0.89246	0.655000	0.94253	GGA		0.448	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			45	407	0	0	0	1	0	45	407				
BSN	8927	broad.mit.edu	37	3	49680099	49680099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680099G>T	ENST00000296452.4	+	3	1146	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	344					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)		AGACCCAGGAGGGCCTCACTG	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.(1030-1032)gaG>gaT		bassoon presynaptic cytomatrix protein							25.0	27.0	26.0					3																	49680099		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49680099G>T	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.1032G>T	3.37:g.49680099G>T	ENSP00000296452:p.Glu344Asp						p.E344D	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)	3	1146	+			344					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.1032G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057968	0.36277	.	.	ENSG00000164061	ENST00000296452	T	0.20881	2.04	4.35	1.48	0.22813	.	0.056300	0.64402	D	0.000002	T	0.14056	0.0340	L	0.32530	0.975	0.37156	D	0.902393	B	0.20780	0.048	B	0.19946	0.027	T	0.12400	-1.0549	10	0.33141	T	0.24	.	8.3358	0.32213	0.3227:0.0:0.6773:0.0	.	344	Q9UPA5	BSN_HUMAN	D	344	ENSP00000296452:E344D	ENSP00000296452:E344D	E	+	3	2	BSN	49655103	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.030000	0.30153	0.160000	0.19432	0.455000	0.32223	GAG		0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	201	1	0	0.014758	1	0.0148251	5	201				
PRPF8	10594	broad.mit.edu	37	17	1563232	1563232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563232G>A	ENST00000572621.1	-	30	5114	c.4849C>T	c.(4849-4851)Cga>Tga	p.R1617*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1617	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATGACTTTCGGGGATGGATT	0.448																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4849-4851)Cga>Tga		pre-mRNA processing factor 8							178.0	146.0	157.0					17																	1563232		2203	4300	6503	SO:0001587	stop_gained	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563232G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4849C>T	17.37:g.1563232G>A	ENSP00000460348:p.Arg1617*					PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*	p.R1617*			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	30	5114	-			1617					O14547|O75965	Nonsense_Mutation	SNP	ENST00000572621.1	37	c.4849C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	g	45	12.059471	0.99632	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	.	.	.	6.06	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5008	15.7685	0.78146	0.0:0.0:0.6624:0.3376	.	.	.	.	X	1617;144	.	ENSP00000304350:R1617X	R	-	1	2	PRPF8	1509982	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.556000	0.45862	1.533000	0.49186	0.655000	0.94253	CGA		0.448	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			78	357	0	0	0	1	0	78	357				
CSMD3	114788	broad.mit.edu	37	8	113504912	113504912	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113504912G>A	ENST00000297405.5	-	31	5328	c.5084C>T	c.(5083-5085)gCa>gTa	p.A1695V	CSMD3_ENST00000455883.2_Splice_Site_p.A1591V|CSMD3_ENST00000343508.3_Splice_Site_p.A1655V|CSMD3_ENST00000352409.3_Splice_Site_p.A1695V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1695	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGCAGTTTTGCTGTAAAACA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e31-1		CUB and Sushi multiple domains 3							103.0	97.0	99.0					8																	113504912		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113504912G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5084-1C>T	8.37:g.113504912G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Splice_Site_p.A1655_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A1591_splice|CSMD3_ENST00000352409.3_Splice_Site_p.A1695_splice	p.A1695_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			31	5328	-			1695			CUB 9.		Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.5083_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650331	0.87958	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.9	4.9	0.64082	CUB (4);	0.000000	0.64402	D	0.000001	T	0.41050	0.1142	L	0.59436	1.845	0.36825	D	0.886589	D;D;P	0.62365	0.991;0.985;0.935	D;P;P	0.63703	0.917;0.828;0.647	T	0.23013	-1.0200	10	0.27785	T	0.31	.	18.6241	0.91331	0.0:0.0:1.0:0.0	.	1591;1695;1655	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1655;1695;1035;1591;1695	ENSP00000345799:A1655V;ENSP00000297405:A1695V;ENSP00000341558:A1035V;ENSP00000412263:A1591V;ENSP00000343124:A1695V	ENSP00000297405:A1695V	A	-	2	0	CSMD3	113574088	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.315000	0.59172	2.704000	0.92352	0.585000	0.79938	GCA		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	62	300	0	0	0	1	0	62	300				
PAX9	5083	broad.mit.edu	37	14	37132272	37132272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132272C>T	ENST00000361487.6	+	2	400	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*			P55771	PAX9_HUMAN	paired box 9	59	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GATCCTGGCGCGATACAACGA	0.642																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	GRCh37	CM077220	PAX9	M		c.(175-177)Cga>Tga		paired box 9							45.0	45.0	45.0					14																	37132272		2203	4300	6503	SO:0001587	stop_gained	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132272C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.175C>T	14.37:g.37132272C>T	ENSP00000355245:p.Arg59*					PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*	p.R59*			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	400	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		59			Paired.		Q99582|Q9UQR4	Nonsense_Mutation	SNP	ENST00000361487.6	37	c.175C>T	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	43	9.951174	0.99303	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	5.11	5.11	0.69529	.	0.054030	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5219	0.90956	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000355245:R59X	R	+	1	2	PAX9	36202023	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.876000	0.63079	2.383000	0.81215	0.561000	0.74099	CGA		0.642	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			38	305	0	0	0	1	0	38	305				
LEPR	3953	broad.mit.edu	37	1	66102160	66102160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66102160C>T	ENST00000349533.6	+	20	3145	c.2960C>T	c.(2959-2961)gCc>gTc	p.A987V	LEPR_ENST00000406510.3_Missense_Mutation_p.A54V	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTTAAATACGCCACGCTGATC	0.433																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2959-2961)gCc>gTc		leptin receptor							82.0	75.0	78.0					1																	66102160		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102160C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2960C>T	1.37:g.66102160C>T	ENSP00000330393:p.Ala987Val					LEPR_ENST00000406510.3_Missense_Mutation_p.A54V	p.A987V	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3145	+			987					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2960C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118589	0.77323	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.70045	-0.45	5.93	5.93	0.95920	.	0.098323	0.64402	D	0.000001	D	0.82435	0.5036	M	0.83012	2.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.83343	-0.0007	10	0.72032	D	0.01	-13.5821	20.3311	0.98718	0.0:1.0:0.0:0.0	.	987	P48357	LEPR_HUMAN	V	987;54	ENSP00000330393:A987V	ENSP00000330393:A987V	A	+	2	0	LEPR	65874748	1.000000	0.71417	0.973000	0.42090	0.284000	0.27059	5.286000	0.65639	2.803000	0.96430	0.650000	0.86243	GCC		0.433	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		9	326	0	0	0	1	0	9	326				
C1QTNF9B	387911	broad.mit.edu	37	13	24471055	24471055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471055C>A	ENST00000382140.2	-	3	131	c.71G>T	c.(70-72)aGg>aTg	p.R24M	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R24M			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	24	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTGCCCTTGCCTGCAGGTGTC	0.542																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(70-72)aGg>aTg		C1q and tumor necrosis factor related protein 9B							106.0	101.0	103.0					13																	24471055		2202	4281	6483	SO:0001583	missense	387911					collagen		g.chr13:24471055C>A	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.71G>T	13.37:g.24471055C>A	ENSP00000371575:p.Arg24Met					C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R24M|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R24M	p.R24M	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			1	139	-			24			Collagen-like 1.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.71G>T	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	11.34	1.610796	0.28712	.	.	ENSG00000205863	ENST00000382145;ENST00000382137;ENST00000382140;ENST00000382057	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	3.99	3.14	0.36123	.	0.224693	0.36854	N	0.002374	D	0.84070	0.5391	N	0.04203	-0.255	0.32070	N	0.594517	P;P	0.45827	0.467;0.867	B;P	0.44946	0.386;0.465	D	0.84365	0.0540	10	0.54805	T	0.06	.	6.4274	0.21778	0.0:0.6345:0.2554:0.11	.	24;24	B2RNN3;B2RNN3-2	C1T9B_HUMAN;.	M	24	ENSP00000371580:R24M;ENSP00000371572:R24M;ENSP00000371575:R24M;ENSP00000371489:R24M	ENSP00000371489:R24M	R	-	2	0	C1QTNF9B	23369055	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	1.586000	0.36611	0.683000	0.31428	0.298000	0.19748	AGG		0.542	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		35	418	1	0	9.84934e-19	1	1.0948e-18	35	418				
VCPIP1	80124	broad.mit.edu	37	8	67576841	67576841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67576841G>A	ENST00000310421.4	-	1	2611	c.2353C>T	c.(2353-2355)Cga>Tga	p.R785*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	785					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.R785*(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATGGACTGTCGTCCATCATTA	0.433																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			1	Substitution - Nonsense(1)	p.R785*(1)	large_intestine(1)	breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2353-2355)Cga>Tga		valosin containing protein (p97)/p47 complex interacting protein 1							180.0	171.0	174.0					8																	67576841		2203	4300	6503	SO:0001587	stop_gained	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67576841G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2353C>T	8.37:g.67576841G>A	ENSP00000309031:p.Arg785*						p.R785*	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2611	-		Lung NSC(129;0.142)|all_lung(136;0.227)	785					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	c.2353C>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	42	9.250744	0.99115	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.574	14.0684	0.64847	0.0:0.0:0.612:0.388	.	.	.	.	X	785	.	ENSP00000309031:R785X	R	-	1	2	VCPIP1	67739395	1.000000	0.71417	0.954000	0.39281	0.993000	0.82548	2.421000	0.44688	1.476000	0.48215	0.655000	0.94253	CGA		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			17	749	0	0	0	1	0	17	749				
HECTD3	79654	broad.mit.edu	37	1	45470286	45470286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45470286C>A	ENST00000372172.4	-	16	2199	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	710	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCTTGCTCTCCTCTAGCCGT	0.602																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(2128-2130)Gag>Tag		HECT domain containing E3 ubiquitin protein ligase 3							129.0	132.0	131.0					1																	45470286		2073	4210	6283	SO:0001587	stop_gained	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45470286C>A	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2128G>T	1.37:g.45470286C>A	ENSP00000361245:p.Glu710*					HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*|HECTD3_ENST00000486132.1_5'UTR	p.E710*	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			16	2199	-	Acute lymphoblastic leukemia(166;0.155)		710			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Nonsense_Mutation	SNP	ENST00000372172.4	37	c.2128G>T	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	39	7.810838	0.98501	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	.	.	.	5.28	5.28	0.74379	.	0.046750	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.0867	0.93206	0.0:1.0:0.0:0.0	.	.	.	.	X	710;320	.	ENSP00000361241:E320X	E	-	1	0	HECTD3	45242873	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.316000	0.79007	2.735000	0.93741	0.549000	0.68633	GAG		0.602	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		31	476	1	0	5.45727e-16	1	5.98072e-16	31	476				
TRRAP	8295	broad.mit.edu	37	7	98552885	98552885	+	Silent	SNP	G	G	A	rs143014711	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552885G>A	ENST00000359863.4	+	40	6083	c.5874G>A	c.(5872-5874)ccG>ccA	p.P1958P	TRRAP_ENST00000355540.3_Silent_p.P1940P|TRRAP_ENST00000446306.3_Silent_p.P1939P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1958					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACACCGTCCCGCAGCTGGTCC	0.627													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18679	0.0		0.0	False		,,,				2504	0.0					ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5872-5874)ccG>ccA		transformation/transcription domain-associated protein		G		1,4405	2.1+/-5.4	0,1,2202	44.0	38.0	40.0		5820	-11.1	0.0	7	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	TRRAP	NM_003496.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1940/3831	98552885	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98552885G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5874G>A	7.37:g.98552885G>A						TRRAP_ENST00000355540.3_Silent_p.P1940P|TRRAP_ENST00000446306.3_Silent_p.P1939P	p.P1958P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		40	6083	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1958					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.5874G>A	CCDS59066.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.528	0.098067	0.08681	2.27E-4	0.0	ENSG00000196367	ENST00000456197	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58205	-0.7677	4	.	.	.	.	1.8097	0.03088	0.3324:0.1798:0.3146:0.1732	.	.	.	.	H	1680	.	.	R	+	2	0	TRRAP	98390821	0.000000	0.05858	0.027000	0.17364	0.630000	0.37929	-2.283000	0.01155	-5.225000	0.00019	-1.446000	0.01064	CGC		0.627	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		28	175	0	0	0	1	0	28	175				
EHMT2	10919	broad.mit.edu	37	6	31860299	31860299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31860299G>A	ENST00000375537.4	-	7	755	c.749C>T	c.(748-750)aCc>aTc	p.T250I	EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I|EHMT2_ENST00000395728.3_Missense_Mutation_p.T307I|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	250					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTTCGTCAGGGTCACTTCTCC	0.542																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(919-921)aCc>aTc		euchromatic histone-lysine N-methyltransferase 2							57.0	53.0	55.0					6																	31860299		1510	2709	4219	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31860299G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.749C>T	6.37:g.31860299G>A	ENSP00000364687:p.Thr250Ile					EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.T250I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I	p.T307I			Q96KQ7	EHMT2_HUMAN			6	919	-			250			Poly-Glu.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.920C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873501	0.33069	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70282	-0.46;-0.45;-0.41;-0.47	4.88	3.07	0.35406	.	0.284204	0.25581	N	0.029689	T	0.24431	0.0592	N	0.08118	0	0.26303	N	0.97794	B;B;B;B	0.10296	0.0;0.001;0.0;0.003	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.14868	-1.0457	10	0.32370	T	0.25	.	6.3179	0.21200	0.3064:0.0:0.6936:0.0	.	307;250;250;64	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	307;307;250;250;64	ENSP00000379078:T307I;ENSP00000364678:T307I;ENSP00000364680:T250I;ENSP00000364687:T250I	ENSP00000364678:T307I	T	-	2	0	EHMT2	31968278	0.149000	0.22717	1.000000	0.80357	0.835000	0.47333	0.373000	0.20484	0.758000	0.33059	0.591000	0.81541	ACC		0.542	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		49	245	0	0	0	1	0	49	245				
ADCY1	107	broad.mit.edu	37	7	45701749	45701749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45701749G>A	ENST00000297323.7	+	8	1563	c.1541G>A	c.(1540-1542)tGc>tAc	p.C514Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.C289Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	514	Interaction with calmodulin. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCATGCACTGCCGGAAAATG	0.522																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1540-1542)tGc>tAc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						86.0	73.0	77.0					7																	45701749		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45701749G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1541G>A	7.37:g.45701749G>A	ENSP00000297323:p.Cys514Tyr					ADCY1_ENST00000432715.1_Missense_Mutation_p.C289Y	p.C514Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			8	1563	+			514			Interaction with calmodulin (By similarity).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1541G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162870	0.57368	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.81659	-1.52;-1.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	L	0.54323	1.7	0.80722	D	1	P;D	0.63046	0.863;0.992	B;D	0.74023	0.424;0.982	T	0.80070	-0.1536	10	0.02654	T	1	.	15.7517	0.77992	0.0:0.0:1.0:0.0	.	514;289	Q08828;C9J1J0	ADCY1_HUMAN;.	Y	289;514;514	ENSP00000392721:C289Y;ENSP00000297323:C514Y	ENSP00000297323:C514Y	C	+	2	0	ADCY1	45668274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.198000	0.94994	2.331000	0.79229	0.591000	0.81541	TGC		0.522	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		19	142	0	0	0	1	0	19	142				
CATSPER1	117144	broad.mit.edu	37	11	65784598	65784598	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65784598T>G	ENST00000312106.5	-	11	2386	c.2249A>C	c.(2248-2250)gAg>gCg	p.E750A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	750					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCTCCTGCTCCACGCTTGC	0.652																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2248-2250)gAg>gCg		cation channel, sperm associated 1							49.0	41.0	44.0					11																	65784598		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65784598T>G	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2249A>C	11.37:g.65784598T>G	ENSP00000309052:p.Glu750Ala						p.E750A	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			11	2386	-			750					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.2249A>C	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191042	0.58017	.	.	ENSG00000175294	ENST00000312106	D	0.97870	-4.58	5.39	5.39	0.77823	.	0.000000	0.32578	U	0.005910	D	0.97390	0.9146	L	0.34521	1.04	0.35202	D	0.774331	D	0.76494	0.999	D	0.80764	0.994	D	0.99951	1.1543	10	0.72032	D	0.01	-30.7008	11.8523	0.52417	0.0:0.0:0.0:1.0	.	750	Q8NEC5	CTSR1_HUMAN	A	750	ENSP00000309052:E750A	ENSP00000309052:E750A	E	-	2	0	CATSPER1	65541174	1.000000	0.71417	0.888000	0.34837	0.286000	0.27126	4.556000	0.60775	2.048000	0.60808	0.524000	0.50904	GAG		0.652	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		15	154	0	0	0	1	0	15	154				
REN	5972	broad.mit.edu	37	1	204130425	204130425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204130425G>A	ENST00000272190.8	-	3	396	c.368C>T	c.(367-369)gCc>gTc	p.A123V	REN_ENST00000367195.2_Missense_Mutation_p.A123V	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	123					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CTCACCACAGGCAGTGTAGAG	0.582																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(367-369)gCc>gTc		renin	Aliskiren(DB01258)|Remikiren(DB00212)						87.0	65.0	72.0					1																	204130425		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204130425G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.368C>T	1.37:g.204130425G>A	ENSP00000272190:p.Ala123Val					REN_ENST00000272190.8_Missense_Mutation_p.A123V	p.A123V			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	411	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		123					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.368C>T	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500692	0.85176	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.61040	0.14;0.14	5.37	5.37	0.77165	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	L	0.61387	1.9	0.80722	D	1	D	0.58970	0.984	P	0.53313	0.723	T	0.72633	-0.4234	10	0.87932	D	0	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	123	P00797	RENI_HUMAN	V	123;42;123	ENSP00000356163:A123V;ENSP00000272190:A123V	ENSP00000272190:A123V	A	-	2	0	REN	202397048	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.353000	0.97080	2.501000	0.84356	0.655000	0.94253	GCC		0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		5	118	0	0	0	1	0	5	118				
DNMT3L	29947	broad.mit.edu	37	21	45678505	45678505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45678505G>T	ENST00000418993.1	-	6	900	c.417C>A	c.(415-417)aaC>aaA	p.N139K	DNMT3L_ENST00000270172.3_Missense_Mutation_p.N139K	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	139	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCACACCCAGTTGCTCATGG	0.637																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(415-417)aaC>aaA		DNA (cytosine-5-)-methyltransferase 3-like							38.0	39.0	39.0					21																	45678505		2200	4300	6500	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45678505G>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.417C>A	21.37:g.45678505G>T	ENSP00000412862:p.Asn139Lys					DNMT3L_ENST00000418993.1_Missense_Mutation_p.N139K	p.N139K	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	6	900	-			139			ADD.		E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.417C>A	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974125	0.34848	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76060	-0.99;-0.99;-0.99	3.61	0.579	0.17397	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.541236	0.19810	N	0.105545	T	0.58524	0.2128	L	0.31207	0.915	0.23271	N	0.998008	P;P	0.49961	0.93;0.93	P;P	0.45856	0.495;0.495	T	0.50792	-0.8786	10	0.34782	T	0.22	-19.8175	3.1666	0.06538	0.2642:0.2316:0.5042:0.0	.	139;139	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	K	139;139;124	ENSP00000270172:N139K;ENSP00000412862:N139K;ENSP00000400242:N124K	ENSP00000270172:N139K	N	-	3	2	DNMT3L	44502933	0.757000	0.28394	0.991000	0.47740	0.982000	0.71751	-0.026000	0.12392	0.286000	0.22352	0.561000	0.74099	AAC		0.637	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		10	125	1	0	2.17888e-05	1	2.22852e-05	10	125				
EIF3L	51386	broad.mit.edu	37	22	38273869	38273869	+	Silent	SNP	G	G	A	rs536868063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38273869G>A	ENST00000412331.2	+	11	1848	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	EIF3L_ENST00000406934.1_Silent_p.S324S|EIF3L_ENST00000381683.6_Silent_p.S374S	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTTCCTGTCGCCTGTAGTGC	0.507																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1264-1266)tcG>tcA		eukaryotic translation initiation factor 3, subunit L							73.0	63.0	67.0					22																	38273869		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38273869G>A	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1266G>A	22.37:g.38273869G>A						EIF3L_ENST00000381683.6_Silent_p.S374S|EIF3L_ENST00000406934.1_Silent_p.S324S	p.S422S	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			11	1848	+			422						Silent	SNP	ENST00000412331.2	37	c.1266G>A	CCDS13960.1																																																																																				0.507	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		68	339	0	0	0	1	0	68	339				
MAP1A	4130	broad.mit.edu	37	15	43818982	43818982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43818982C>T	ENST00000300231.5	+	4	5761	c.5311C>T	c.(5311-5313)Cgc>Tgc	p.R1771C	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2009C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1771					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGGTGGAGCGCTGGCTTGC	0.587																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(6025-6027)Cgc>Tgc		microtubule-associated protein 1A	Estramustine(DB01196)						84.0	86.0	86.0					15																	43818982		1973	4150	6123	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818982C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5311C>T	15.37:g.43818982C>T	ENSP00000300231:p.Arg1771Cys					MAP1A_ENST00000300231.5_Missense_Mutation_p.R1771C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C	p.R2009C			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	6056	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1771					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6025C>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006320	0.35415	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01947	4.54;4.54;4.55	4.46	4.46	0.54185	.	0.000000	0.34314	N	0.004061	T	0.04048	0.0113	L	0.32530	0.975	0.43512	D	0.995775	D	0.69078	0.997	P	0.52710	0.707	T	0.48387	-0.9040	10	0.72032	D	0.01	-0.4217	9.7751	0.40614	0.0:0.9038:0.0:0.0962	.	1771	P78559	MAP1A_HUMAN	C	2009;1771;1771	ENSP00000371462:R2009C;ENSP00000382380:R1771C;ENSP00000300231:R1771C	ENSP00000300231:R1771C	R	+	1	0	MAP1A	41606274	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.270000	0.33086	2.321000	0.78463	0.455000	0.32223	CGC		0.587	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		115	618	0	0	0	1	0	115	618				
TMED7	51014	broad.mit.edu	37	5	114956247	114956247	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114956247A>C	ENST00000456936.3	-	2	703	c.323T>G	c.(322-324)tTt>tGt	p.F108C	AC010226.4_ENST00000515570.1_RNA|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C|AC010226.4_ENST00000508517.1_RNA	NM_181836.5	NP_861974.1	Q9Y3B3	TMED7_HUMAN	transmembrane emp24 protein transport domain containing 7	108	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|COPII vesicle coat (GO:0030127)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		GCTGAAGCAAAATTTGTATGT	0.353																																					Pancreas(167;237 2002 3207 14549 49356)	ENST00000456936.3																			0				breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6						c.(322-324)tTt>tGt		transmembrane emp24 protein transport domain containing 7							126.0	128.0	127.0					5																	114956247		2202	4300	6502	SO:0001583	missense	51014							g.chr5:114956247A>C	AK074962	CCDS4120.1	5q22.3	2011-04-19			ENSG00000134970	ENSG00000134970			24253	protein-coding gene	gene with protein product						10810093	Standard	NM_181836		Approved	CGI-109, FLJ90481		Q9Y3B3	OTTHUMG00000132013	ENST00000456936.3:c.323T>G	5.37:g.114956247A>C	ENSP00000405926:p.Phe108Cys					AC010226.4_ENST00000515570.1_RNA|TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C	p.F108C	NM_181836.5	NP_861974.1				OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)	2	703	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)						Q8NBU8|Q8WUU6|Q96K51	Missense_Mutation	SNP	ENST00000456936.3	37	c.323T>G	CCDS4120.1	.	.	.	.	.	.	.	.	.	.	a	24.8	4.571078	0.86542	.	.	ENSG00000243414;ENSG00000251201;ENSG00000251201;ENSG00000134970	ENST00000408996;ENST00000282382;ENST00000333314;ENST00000456936	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.92	5.92	0.95590	GOLD (3);	0.097816	0.64402	D	0.000001	T	0.75867	0.3908	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.82096	-0.0626	10	0.72032	D	0.01	-15.079	15.3535	0.74409	1.0:0.0:0.0:0.0	.	108;108	Q9Y3B3;Q6JUT2	TMED7_HUMAN;.	C	108	ENSP00000386341:F108C;ENSP00000282382:F108C;ENSP00000333650:F108C;ENSP00000405926:F108C	ENSP00000405926:F108C	F	-	2	0	TMED7;TICAM2;TMED7-TICAM2	114984146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.267000	0.75376	0.477000	0.44152	TTT		0.353	TMED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254990.4	NM_181836		82	366	0	0	0	1	0	82	366				
WARS	7453	broad.mit.edu	37	14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.R65W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	106					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(316-318)Cgg>Tgg		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						152.0	141.0	144.0					14																	100826997		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100826997G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.316C>T	14.37:g.100826997G>A	ENSP00000347495:p.Arg106Trp					WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W	p.R106W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			4	934	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	106					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.316C>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469492	0.43839	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.67;1.57	5.46	4.57	0.56435	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.071226	0.64402	D	0.000011	T	0.75649	0.3878	M	0.88640	2.97	0.51767	D	0.99993	P	0.50819	0.939	B	0.41412	0.356	T	0.81858	-0.0739	10	0.87932	D	0	-2.1292	14.3863	0.66947	0.0715:0.0:0.9285:0.0	.	106	P23381	SYWC_HUMAN	W	106;65;106;65;106;65;65;65;106;65;65;65;106;106;140;106;106;106	ENSP00000376620:R106W;ENSP00000351481:R65W;ENSP00000347495:R106W;ENSP00000339485:R65W;ENSP00000451460:R106W;ENSP00000451887:R65W;ENSP00000451490:R65W;ENSP00000451251:R65W;ENSP00000450500:R106W;ENSP00000451599:R65W;ENSP00000452519:R65W;ENSP00000451544:R65W;ENSP00000450427:R106W;ENSP00000451349:R106W;ENSP00000450934:R140W;ENSP00000451469:R106W;ENSP00000451402:R106W;ENSP00000452550:R106W	ENSP00000339485:R65W	R	-	1	2	WARS	99896750	1.000000	0.71417	0.489000	0.27452	0.224000	0.24922	4.645000	0.61404	1.300000	0.44818	-0.150000	0.13652	CGG		0.418	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		64	261	0	0	0	1	0	64	261				
UGP2	7360	broad.mit.edu	37	2	64109652	64109652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64109652C>T	ENST00000337130.5	+	4	784	c.308C>T	c.(307-309)tCc>tTc	p.S103F	UGP2_ENST00000445915.2_Missense_Mutation_p.S112F|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F|UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000487469.1_3'UTR	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	103					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AATATATCTTCCGTGTTGAAC	0.403																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(307-309)tCc>tTc		UDP-glucose pyrophosphorylase 2							107.0	113.0	111.0					2																	64109652		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64109652C>T		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.308C>T	2.37:g.64109652C>T	ENSP00000338703:p.Ser103Phe					UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|UGP2_ENST00000445915.2_Missense_Mutation_p.S112F|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F	p.S103F	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			4	784	+			103					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.308C>T	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337641	0.81911	.	.	ENSG00000169764	ENST00000394417;ENST00000482668;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.77	5.77	0.91146	.	0.270254	0.42682	D	0.000663	T	0.34424	0.0897	L	0.61036	1.89	0.80722	D	1	P;P	0.41710	0.76;0.64	P;P	0.45474	0.482;0.482	T	0.04579	-1.0941	10	0.72032	D	0.01	-6.8018	19.9915	0.97366	0.0:1.0:0.0:0.0	.	112;103	E7EUC7;Q16851	.;UGPA_HUMAN	F	92;92;92;103;92;95;112;92;92;92	ENSP00000377939:S92F;ENSP00000419548:S92F;ENSP00000420793:S92F;ENSP00000338703:S103F;ENSP00000419442:S92F;ENSP00000420131:S95F;ENSP00000411803:S112F;ENSP00000419335:S92F;ENSP00000420342:S92F;ENSP00000419238:S92F	ENSP00000338703:S103F	S	+	2	0	UGP2	63963156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.035000	0.49759	2.723000	0.93209	0.655000	0.94253	TCC		0.403	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		90	523	0	0	0	1	0	90	523				
SPATC1	375686	broad.mit.edu	37	8	145095869	145095869	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145095869A>G	ENST00000377470.3	+	3	1269	c.1167A>G	c.(1165-1167)ccA>ccG	p.P389P	SPATC1_ENST00000447830.2_Silent_p.P389P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	389						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACTCCCCACCTCGTACCT	0.612																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1165-1167)ccA>ccG		spermatogenesis and centriole associated 1							222.0	96.0	139.0					8																	145095869		2202	4299	6501	SO:0001819	synonymous_variant	375686							g.chr8:145095869A>G	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1167A>G	8.37:g.145095869A>G						SPATC1_ENST00000447830.2_Silent_p.P389P	p.P389P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	1269	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		389					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.1167A>G	CCDS6413.2																																																																																				0.612	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		73	334	0	0	0	1	0	73	334				
NOL8	55035	broad.mit.edu	37	9	95078044	95078044	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95078044A>G	ENST00000535387.1	-	6	862	c.863T>C	c.(862-864)tTg>tCg	p.L288S	NOL8_ENST00000442668.2_Missense_Mutation_p.L288S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S|NOL8_ENST00000545558.1_Missense_Mutation_p.L288S|NOL8_ENST00000358855.4_Missense_Mutation_p.L220S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGCAGTTTCCAAGCCAGAAGT	0.353																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(862-864)tTg>tCg		nucleolar protein 8							43.0	39.0	40.0					9																	95078044		1831	4094	5925	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95078044A>G	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.863T>C	9.37:g.95078044A>G	ENSP00000441300:p.Leu288Ser					NOL8_ENST00000358855.4_Missense_Mutation_p.L220S|NOL8_ENST00000442668.2_Missense_Mutation_p.L288S|NOL8_ENST00000535387.1_Missense_Mutation_p.L288S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S	p.L288S			Q76FK4	NOL8_HUMAN			7	1355	-			288						Missense_Mutation	SNP	ENST00000535387.1	37	c.863T>C	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178662	0.21787	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.44482	2.52;2.52;2.52;2.74;2.52;2.26;0.92	5.57	3.22	0.36961	.	1.237480	0.05257	N	0.515005	T	0.26448	0.0646	N	0.19112	0.55	0.09310	N	1	B	0.26195	0.144	B	0.18561	0.022	T	0.21381	-1.0247	10	0.26408	T	0.33	-0.3825	4.0438	0.09763	0.492:0.2688:0.2392:0.0	.	288	Q76FK4	NOL8_HUMAN	S	288;290;220;288;288;220;288;288	ENSP00000401177:L288S;ENSP00000351723:L220S;ENSP00000441140:L288S;ENSP00000441300:L288S;ENSP00000440709:L220S;ENSP00000414112:L288S;ENSP00000412471:L288S	ENSP00000351723:L220S	L	-	2	0	NOL8	94117865	0.003000	0.15002	0.206000	0.23566	0.197000	0.23852	1.841000	0.39240	0.926000	0.37118	0.528000	0.53228	TTG		0.353	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		16	118	0	0	0	1	0	16	118				
FAM83G	644815	broad.mit.edu	37	17	18881907	18881907	+	Missense_Mutation	SNP	C	C	T	rs563466170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881907C>T	ENST00000388995.6	-	5	1295	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	358					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCAATCTCGTCGACGCTCTTG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18334	0.0		0.0	False		,,,				2504	0.0					ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1072-1074)Gac>Aac		family with sequence similarity 83, member G							66.0	73.0	71.0					17																	18881907		1993	4158	6151	SO:0001583	missense	644815							g.chr17:18881907C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1072G>A	17.37:g.18881907C>T	ENSP00000373647:p.Asp358Asn					FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.D358N			A6ND36	FA83G_HUMAN			5	1295	-			358					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1072G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156648	0.21454	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.15256	2.44;2.44	5.39	5.39	0.77823	.	0.316112	0.30593	N	0.009292	T	0.15478	0.0373	M	0.67953	2.075	0.25909	N	0.983255	P	0.48640	0.913	B	0.33121	0.158	T	0.34800	-0.9814	10	0.22706	T	0.39	-20.4086	12.4985	0.55942	0.0:0.9233:0.0:0.0767	.	358	A6ND36	FA83G_HUMAN	N	358	ENSP00000373647:D358N;ENSP00000343279:D358N	ENSP00000343279:D358N	D	-	1	0	FAM83G	18822632	0.990000	0.36364	0.082000	0.20525	0.045000	0.14185	2.671000	0.46842	2.537000	0.85549	0.491000	0.48974	GAC		0.627	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			97	402	0	0	0	1	0	97	402				
E2F5	1875	broad.mit.edu	37	8	86115478	86115478	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115478C>A	ENST00000416274.2	+	3	528	c.494C>A	c.(493-495)tCc>tAc	p.S165Y	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.S165Y|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	165	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATGGACGATTCCATTAATAAT	0.303																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(493-495)tCc>tAc		E2F transcription factor 5, p130-binding							57.0	55.0	56.0					8																	86115478		1832	4093	5925	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86115478C>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.494C>A	8.37:g.86115478C>A	ENSP00000398124:p.Ser165Tyr					E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y|E2F5_ENST00000416274.2_Missense_Mutation_p.S165Y	p.S165Y			Q15329	E2F5_HUMAN			3	690	+			165			Dimerization (Potential).		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.494C>A	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468270	0.63625	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.55	5.55	0.83447	.	0.050297	0.85682	D	0.000000	D	0.88890	0.6560	M	0.69823	2.125	0.80722	D	1	P;P	0.48089	0.905;0.847	P;B	0.49085	0.6;0.284	D	0.89516	0.3775	10	0.59425	D	0.04	-2.4367	19.4996	0.95089	0.0:1.0:0.0:0.0	.	165;165	Q15329-2;Q15329	.;E2F5_HUMAN	Y	165;165;165;4	ENSP00000414312:S165Y;ENSP00000256117:S165Y;ENSP00000398124:S165Y;ENSP00000429120:S4Y	ENSP00000256117:S165Y	S	+	2	0	E2F5	86302730	0.983000	0.35010	1.000000	0.80357	0.926000	0.56050	7.718000	0.84743	2.606000	0.88127	0.650000	0.86243	TCC		0.303	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		23	95	1	0	7.87624e-14	1	8.52853e-14	23	95				
CDH22	64405	broad.mit.edu	37	20	44815474	44815474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815474C>T	ENST00000372262.3	-	8	1936	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	CDH22_ENST00000537909.1_Silent_p.K512K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGGCCTGGCTTGGCATCCT	0.617																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1534-1536)aaG>aaA		cadherin 22, type 2							148.0	133.0	138.0					20																	44815474		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815474C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1536G>A	20.37:g.44815474C>T						CDH22_ENST00000537909.1_Silent_p.K512K	p.K512K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			8	1936	-		Myeloproliferative disorder(115;0.0122)	512			Cadherin 5.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1536G>A	CCDS13395.1																																																																																				0.617	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		31	664	0	0	0	1	0	31	664				
NOTCH1	4851	broad.mit.edu	37	9	139395286	139395286	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139395286C>T	ENST00000277541.6	-	31	5727	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1884					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)		CGATCATGAGCGGGGTGAAGC	0.692			"""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.(5650-5652)ccG>ccA		notch 1							12.0	15.0	14.0					9																	139395286		1987	4152	6139	SO:0001819	synonymous_variant	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.chr9:139395286C>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.5652G>A	9.37:g.139395286C>T		HNSCC(8;0.001)					p.P1884P	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5727	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1884					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5652G>A	CCDS43905.1																																																																																				0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		24	147	0	0	0	1	0	24	147				
MTOR	2475	broad.mit.edu	37	1	11270930	11270930	+	Missense_Mutation	SNP	G	G	T	rs35972271|rs199611325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11270930G>T	ENST00000361445.4	-	24	3671	c.3595C>A	c.(3595-3597)Ctg>Atg	p.L1199M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1199					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGTCGCACCAGAACTTTATTC	0.398																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(3595-3597)Ctg>Atg		mechanistic target of rapamycin (serine/threonine kinase)							91.0	83.0	86.0					1																	11270930		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11270930G>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3595C>A	1.37:g.11270930G>T	ENSP00000354558:p.Leu1199Met						p.L1199M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			24	3671	-			1199					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.3595C>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784378	0.31593	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.74737	-0.87	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.126361	0.52532	D	0.000065	T	0.61185	0.2327	N	0.25789	0.76	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.55166	-0.8183	10	0.32370	T	0.25	-12.831	10.8679	0.46866	0.1389:0.0:0.8611:0.0	.	1199	P42345	MTOR_HUMAN	M	1199	ENSP00000354558:L1199M	ENSP00000354558:L1199M	L	-	1	2	MTOR	11193517	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.317000	0.51968	2.882000	0.98803	0.655000	0.94253	CTG		0.398	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		47	230	1	0	5.57489e-27	1	6.44243e-27	47	230				
EIF4G3	8672	broad.mit.edu	37	1	21268212	21268212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268212C>T	ENST00000264211.8	-	8	1461	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A429T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	423					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ggaggagaagctggaggagtt	0.527																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1285-1287)Gct>Act		eukaryotic translation initiation factor 4 gamma, 3							103.0	98.0	100.0					1																	21268212		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268212C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1267G>A	1.37:g.21268212C>T	ENSP00000264211:p.Ala423Thr					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A423T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T	p.A429T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1868	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	423					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1285G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248320	0.10130	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.62	2.7	0.31948	.	0.540393	0.20858	N	0.084418	T	0.09686	0.0238	N	0.08118	0	0.18873	N	0.999989	B;B;B;B;B;B	0.12013	0.005;0.003;0.003;0.001;0.0;0.001	B;B;B;B;B;B	0.12156	0.007;0.005;0.004;0.003;0.001;0.001	T	0.33879	-0.9851	10	0.24483	T	0.36	-1.3839	8.2271	0.31575	0.0:0.6398:0.1419:0.2183	.	423;618;549;27;429;423	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	T	423;619;423;429;27;549;423;434	ENSP00000264211:A423T;ENSP00000383274:A423T;ENSP00000364073:A429T;ENSP00000444693:A27T;ENSP00000364062:A423T	ENSP00000264211:A423T	A	-	1	0	EIF4G3	21140799	0.105000	0.21958	0.808000	0.32385	0.663000	0.39108	0.121000	0.15667	0.045000	0.15804	-0.797000	0.03246	GCT		0.527	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		59	413	0	0	0	1	0	59	413				
TEKT1	83659	broad.mit.edu	37	17	6704113	6704113	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6704113T>G	ENST00000338694.2	-	7	1131	c.1002A>C	c.(1000-1002)caA>caC	p.Q334H	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	334						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTAGCCTATATTGTGCGACAT	0.572											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(1000-1002)caA>caC		tektin 1							225.0	202.0	210.0					17																	6704113		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6704113T>G		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1002A>C	17.37:g.6704113T>G	ENSP00000341346:p.Gln334His		OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	p.Q334H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			7	1131	-		Myeloproliferative disorder(207;0.0255)	334					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.1002A>C	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.667815	0.29604	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03772	3.81;3.81	5.85	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	M	0.69248	2.105	0.51233	D	0.99991	B	0.23990	0.095	B	0.34873	0.191	T	0.09207	-1.0685	10	0.34782	T	0.22	.	10.0039	0.41946	0.0:0.778:0.0:0.222	.	334	Q969V4	TEKT1_HUMAN	H	334;188	ENSP00000341346:Q334H;ENSP00000444142:Q188H	ENSP00000341346:Q334H	Q	-	3	2	TEKT1	6644837	0.835000	0.29415	0.781000	0.31783	0.005000	0.04900	0.516000	0.22817	0.495000	0.27882	-0.789000	0.03336	CAA		0.572	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		153	671	0	0	0	1	0	153	671				
SCN1A	6323	broad.mit.edu	37	2	166848102	166848102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848102C>T	ENST00000303395.4	-	26	5682	c.5683G>A	c.(5683-5685)Gct>Act	p.A1895T	SCN1A_ENST00000423058.2_Missense_Mutation_p.A1895T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1884T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1867T|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1895					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGATTGGAAGCCATGAATCGC	0.428																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5683-5685)Gct>Act		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						99.0	93.0	95.0					2																	166848102		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848102C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5683G>A	2.37:g.166848102C>T	ENSP00000303540:p.Ala1895Thr					SCN1A_ENST00000303395.4_Missense_Mutation_p.A1895T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1884T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1867T	p.A1895T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5700	-			1895					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5683G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468538	0.43839	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96365	-3.99;-3.99;-3.95;-3.93	5.6	4.66	0.58398	.	0.204155	0.34484	N	0.003928	D	0.97470	0.9172	M	0.84433	2.695	0.51233	D	0.999914	P	0.51240	0.943	P	0.53861	0.736	D	0.97903	1.0304	10	0.87932	D	0	.	15.6895	0.77439	0.0:0.7611:0.2389:0.0	.	1884	P35498-2	.	T	1895;1895;1884;1867	ENSP00000407030:A1895T;ENSP00000303540:A1895T;ENSP00000364554:A1884T;ENSP00000386312:A1867T	ENSP00000303540:A1895T	A	-	1	0	SCN1A	166556348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.881000	0.56152	2.788000	0.95919	0.650000	0.86243	GCT		0.428	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		10	577	0	0	0	1	0	10	577				
STX8	9482	broad.mit.edu	37	17	9471724	9471724	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9471724T>C	ENST00000306357.4	-	2	508	c.81A>G	c.(79-81)cgA>cgG	p.R27R	STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_5'UTR	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	27					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CATATTGATTTCGTTGTTGAA	0.368																																						ENST00000306357.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						c.(79-81)cgA>cgG		syntaxin 8							176.0	136.0	149.0					17																	9471724		2203	4300	6503	SO:0001819	synonymous_variant	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9471724T>C	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.81A>G	17.37:g.9471724T>C						STX8_ENST00000573077.3_5'UTR|STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_Silent_p.R27R	p.R27R	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN			2	508	-			27					O60712|Q53XT8	Silent	SNP	ENST00000306357.4	37	c.81A>G	CCDS32565.1																																																																																				0.368	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		12	84	0	0	0	1	0	12	84				
CIZ1	25792	broad.mit.edu	37	9	130942771	130942771	+	Silent	SNP	G	G	A	rs371780195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130942771G>A	ENST00000393608.1	-	7	916	c.714C>T	c.(712-714)atC>atT	p.I238I	CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000541172.1_Silent_p.I137I|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000372938.5_Silent_p.I238I|CIZ1_ENST00000538431.1_Silent_p.I238I	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	238					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTTCCTTGGCGATGTCCTCTG	0.547																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(712-714)atC>atT		CDKN1A interacting zinc finger protein 1		G	,,,,	0,4406		0,0,2203	256.0	215.0	229.0		714,714,699,642,714	0.3	0.0	9		229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	238/843,238/899,233/838,214/819,238/899	130942771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130942771G>A	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.714C>T	9.37:g.130942771G>A						CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Silent_p.I238I|CIZ1_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000372938.5_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000541172.1_Silent_p.I137I	p.I238I	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			7	961	-			238					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	c.714C>T	CCDS6894.1																																																																																				0.547	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		97	502	0	0	0	1	0	97	502				
PRSS35	167681	broad.mit.edu	37	6	84234319	84234319	+	Missense_Mutation	SNP	G	G	A	rs375255168		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84234319G>A	ENST00000369700.3	+	2	1336	c.1159G>A	c.(1159-1161)Gtt>Att	p.V387I	PRSS35_ENST00000536636.1_Missense_Mutation_p.V387I	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	387	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACTACAACGTTGCTGTTCG	0.498																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1159-1161)Gtt>Att		protease, serine, 35		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	73.0	57.0	63.0		1159,1159	5.9	1.0	6		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS35	NM_001170423.1,NM_153362.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	387/414,387/414	84234319	1,13005	2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234319G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1159G>A	6.37:g.84234319G>A	ENSP00000358714:p.Val387Ile					PRSS35_ENST00000369700.3_Missense_Mutation_p.V387I	p.V387I	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1504	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	387			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.1159G>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210808	0.95069	0.0	1.16E-4	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65113	-0.6247	10	0.72032	D	0.01	-20.4384	20.2946	0.98546	0.0:0.0:1.0:0.0	.	387	Q8N3Z0	PRS35_HUMAN	I	387	ENSP00000440870:V387I;ENSP00000358714:V387I	ENSP00000358714:V387I	V	+	1	0	PRSS35	84291038	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	GTT		0.498	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		52	227	0	0	0	1	0	52	227				
NUP210L	91181	broad.mit.edu	37	1	154062023	154062023	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154062023A>C	ENST00000368559.3	-	16	2306	c.2235T>G	c.(2233-2235)agT>agG	p.S745R	NUP210L_ENST00000271854.3_Missense_Mutation_p.S745R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	745					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTACAGCTGGACTAGGGTTCA	0.483																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2233-2235)agT>agG		nucleoporin 210kDa-like							113.0	110.0	111.0					1																	154062023		1914	4131	6045	SO:0001583	missense	91181					integral to membrane		g.chr1:154062023A>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2235T>G	1.37:g.154062023A>C	ENSP00000357547:p.Ser745Arg					NUP210L_ENST00000271854.3_Missense_Mutation_p.S745R	p.S745R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2306	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		745					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2235T>G	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636657	0.67130	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23552	1.9;1.9	4.56	0.898	0.19264	.	0.206970	0.34338	N	0.004041	T	0.16385	0.0394	L	0.44542	1.39	0.32872	D	0.509353	D;D	0.64830	0.994;0.993	P;P	0.59288	0.829;0.855	T	0.05084	-1.0907	10	0.26408	T	0.33	-25.0072	7.3792	0.26845	0.621:0.0:0.379:0.0	.	745;745	E7EP56;Q5VU65	.;P210L_HUMAN	R	745	ENSP00000357547:S745R;ENSP00000271854:S745R	ENSP00000271854:S745R	S	-	3	2	NUP210L	152328647	0.481000	0.25941	1.000000	0.80357	0.991000	0.79684	0.314000	0.19432	0.278000	0.22164	0.377000	0.23210	AGT		0.483	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		12	524	0	0	0	1	0	12	524				
TGM3	7053	broad.mit.edu	37	20	2298000	2298000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2298000G>A	ENST00000381458.5	+	7	915	c.852G>A	c.(850-852)ctG>ctA	p.L284L	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	284					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTGCAGCGCTGCGGTCTTTGG	0.577																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(850-852)ctG>ctA		transglutaminase 3	L-Glutamine(DB00130)						137.0	118.0	124.0					20																	2298000		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2298000G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.852G>A	20.37:g.2298000G>A						TGM3_ENST00000463090.1_3'UTR	p.L284L	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			7	915	+			284					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.852G>A	CCDS33435.1																																																																																				0.577	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		102	521	0	0	0	1	0	102	521				
FREM1	158326	broad.mit.edu	37	9	14747318	14747318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14747318C>A	ENST00000380880.3	-	33	6736	c.5953G>T	c.(5953-5955)Gaa>Taa	p.E1985*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.E1986*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1985					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAGGCAGTTCTGCCACTTTG	0.423																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(5956-5958)Gaa>Taa		FRAS1 related extracellular matrix 1							222.0	207.0	212.0					9																	14747318		1943	4155	6098	SO:0001587	stop_gained	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14747318C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5953G>T	9.37:g.14747318C>A	ENSP00000370262:p.Glu1985*					FREM1_ENST00000380880.3_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*	p.E1986*			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	34	6771	-			1985					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	37	c.5956G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	50	16.906635	0.99874	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	.	.	.	5.64	4.73	0.59995	.	0.592171	0.18006	N	0.154748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.2242	14.7377	0.69427	0.0:0.8557:0.1443:0.0	.	.	.	.	X	1986;1985;521;1985	.	ENSP00000370262:E1985X	E	-	1	0	FREM1	14737318	0.998000	0.40836	0.161000	0.22692	0.466000	0.32739	3.625000	0.54238	1.340000	0.45581	0.655000	0.94253	GAA		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		91	550	1	0	2.68325e-40	1	3.25214e-40	91	550				
CHAT	1103	broad.mit.edu	37	10	50860033	50860033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50860033C>A	ENST00000337653.2	+	11	1768	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	CHAT_ENST00000351556.3_Missense_Mutation_p.L421I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I|CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I|CHAT_ENST00000395562.2_Missense_Mutation_p.L457I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	539					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCAGGTGGCCCTCCAGCTGGC	0.488																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1369-1371)Ctc>Atc		choline O-acetyltransferase	Choline(DB00122)						74.0	72.0	73.0					10																	50860033		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50860033C>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1615C>A	10.37:g.50860033C>A	ENSP00000337103:p.Leu539Ile					CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000351556.3_Missense_Mutation_p.L421I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I|CHAT_ENST00000337653.2_Missense_Mutation_p.L539I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I	p.L457I	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	12	1838	+		all_neural(218;0.107)	539					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1369C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440163	0.63067	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.85	4.85	0.62838	.	0.064020	0.64402	D	0.000009	D	0.93331	0.7874	L	0.60845	1.875	0.58432	D	0.999996	P;P	0.48016	0.904;0.761	P;P	0.57679	0.795;0.825	D	0.93744	0.7053	10	0.56958	D	0.05	-19.8669	17.9506	0.89052	0.0:1.0:0.0:0.0	.	421;539	F8W8I2;P28329	.;CLAT_HUMAN	I	421;421;421;539;457;421	ENSP00000343486:L421I;ENSP00000345878:L421I;ENSP00000378926:L421I;ENSP00000337103:L539I;ENSP00000378929:L457I;ENSP00000390521:L421I	ENSP00000337103:L539I	L	+	1	0	CHAT	50530039	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.675000	0.61619	2.242000	0.73789	0.561000	0.74099	CTC		0.488	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		11	180	1	0	3.86212e-05	1	3.93988e-05	11	180				
GRID1	2894	broad.mit.edu	37	10	87379700	87379700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87379700C>T	ENST00000327946.7	-	14	2369	c.2284G>A	c.(2284-2286)Ggc>Agc	p.G762S	GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	762					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ATGCTGTTGCCGATGACAGTC	0.582										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2284-2286)Ggc>Agc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						131.0	96.0	108.0					10																	87379700		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87379700C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2284G>A	10.37:g.87379700C>T	ENSP00000330148:p.Gly762Ser	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	p.G762S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			14	2369	-			762					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2284G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851330	0.71719	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14640	2.49;2.49	5.28	1.4	0.22301	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.199677	0.52532	N	0.000065	T	0.21227	0.0511	M	0.85542	2.76	0.80722	D	1	P	0.45715	0.865	B	0.43194	0.411	T	0.03555	-1.1025	10	0.59425	D	0.04	.	9.3267	0.37997	0.0:0.7095:0.0:0.2905	.	762	Q9ULK0	GRID1_HUMAN	S	762;333	ENSP00000330148:G762S;ENSP00000444455:G333S	ENSP00000330148:G762S	G	-	1	0	GRID1	87369680	0.902000	0.30710	0.140000	0.22221	0.797000	0.45037	1.842000	0.39250	-0.002000	0.14469	-0.291000	0.09656	GGC		0.582	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		27	263	0	0	0	1	0	27	263				
CACNA1B	774	broad.mit.edu	37	9	140995616	140995616	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140995616C>T	ENST00000371372.1	+	38	5367				CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371365.2_Silent_p.G125G|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCCGTTGGCTTAGGGAAGA	0.498																																						ENST00000371365.2																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(373-375)ggC>ggT		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						46.0	36.0	39.0					9																	140995616		876	1991	2867	SO:0001627	intron_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140995616C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5223-1547C>T	9.37:g.140995616C>T						CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000277551.2_Intron	p.G125G			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	4	420	+	all_cancers(76;0.166)		1761					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.375C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	8.807	0.934280	0.18206	.	.	ENSG00000148408	ENST00000413253	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	T	0.68723	0.3032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67841	-0.5566	4	.	.	.	.	13.574	0.61864	0.0:0.844:0.156:0.0	.	.	.	.	F	126	.	.	L	+	1	0	CACNA1B	140115437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.872000	0.69636	2.190000	0.69967	0.455000	0.32223	CTT		0.498	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		21	82	0	0	0	1	0	21	82				
ARHGAP8	23779	broad.mit.edu	37	22	45255624	45255624	+	Silent	SNP	C	C	T	rs144257107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45255624C>T	ENST00000389774.2	+	12	1125	c.984C>T	c.(982-984)agC>agT	p.S328S	PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S|ARHGAP8_ENST00000389773.5_Silent_p.S419S|ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|ARHGAP8_ENST00000336963.4_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.S507S	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	328	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TGGAGAGCAGCCTGCGTGTCA	0.667																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(1519-1521)agC>agT									56.0	50.0	52.0					22																	45255624		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr22:45255624C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.984C>T	22.37:g.45255624C>T						ARHGAP8_ENST00000389774.2_Silent_p.S328S|ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|ARHGAP8_ENST00000389773.5_Silent_p.S419S|ARHGAP8_ENST00000336963.4_Intron|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S	p.S507S							16	1521	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.1521C>T	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	C	0.881	-0.728824	0.03135	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.14	0.806	0.18708	.	.	.	.	.	T	0.51958	0.1705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	5.938	0.19177	0.0:0.5978:0.1399:0.2623	.	.	.	.	V	368	.	.	A	+	2	0	PRR5-ARHGAP8	43634288	1.000000	0.71417	0.999000	0.59377	0.049000	0.14656	0.876000	0.28092	0.069000	0.16605	-1.512000	0.00943	GCC		0.667	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		26	157	0	0	0	1	0	26	157				
IQCA1	79781	broad.mit.edu	37	2	237272537	237272537	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237272537G>T	ENST00000409907.3	-	15	2029	c.1755C>A	c.(1753-1755)gtC>gtA	p.V585V	IQCA1_ENST00000431676.2_Silent_p.V544V|IQCA1_ENST00000309507.5_Silent_p.V582V	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	585							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGATGGCATGGACCAGCATTT	0.512																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(1753-1755)gtC>gtA		IQ motif containing with AAA domain 1							171.0	169.0	170.0					2																	237272537		1994	4154	6148	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237272537G>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1755C>A	2.37:g.237272537G>T						IQCA1_ENST00000431676.2_Silent_p.V544V|IQCA1_ENST00000309507.5_Silent_p.V582V	p.V585V			Q86XH1	IQCA1_HUMAN			15	2029	-			585					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.1755C>A	CCDS46549.1																																																																																				0.512	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		136	378	1	0	2.46909e-68	1	3.13059e-68	136	378				
UCP3	7352	broad.mit.edu	37	11	73712499	73712499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73712499C>T	ENST00000314032.4	-	7	1449	c.897G>A	c.(895-897)cgG>cgA	p.R299R	UCP3_ENST00000348534.4_Silent_p.R197R|UCP3_ENST00000545271.1_5'Flank	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	299	Purine nucleotide binding. {ECO:0000250}.				aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATCAGGGCCCGTTTCAGCT	0.453																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(895-897)cgG>cgA		uncoupling protein 3 (mitochondrial, proton carrier)							153.0	118.0	130.0					11																	73712499		2200	4293	6493	SO:0001819	synonymous_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73712499C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.897G>A	11.37:g.73712499C>T						UCP3_ENST00000348534.4_Silent_p.R197R	p.R299R	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			7	1449	-	Breast(11;2.08e-05)		299			Purine nucleotide binding (By similarity).		O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	c.897G>A	CCDS8229.1																																																																																				0.453	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		48	250	0	0	0	1	0	48	250				
LIPG	9388	broad.mit.edu	37	18	47110060	47110060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110060G>A	ENST00000261292.4	+	8	1570	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	LIPG_ENST00000427224.2_Missense_Mutation_p.R357H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AAGGAGTTTCGCAGCTACCTG	0.587																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1291-1293)cGc>cAc		lipase, endothelial							72.0	64.0	67.0					18																	47110060		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110060G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1292G>A	18.37:g.47110060G>A	ENSP00000261292:p.Arg431His					LIPG_ENST00000427224.2_Missense_Mutation_p.R357H	p.R431H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			8	1570	+			431			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1292G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683239	0.68157	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86627	-2.15;-1.64	5.38	4.51	0.55191	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.214441	0.47852	D	0.000208	D	0.90525	0.7031	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.912	D	0.89655	0.3872	10	0.51188	T	0.08	-20.9923	8.7691	0.34722	0.2273:0.0:0.7727:0.0	.	357;431	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	H	431;357	ENSP00000261292:R431H;ENSP00000387978:R357H	ENSP00000261292:R431H	R	+	2	0	LIPG	45364058	0.005000	0.15991	1.000000	0.80357	0.965000	0.64279	1.242000	0.32755	1.274000	0.44362	0.561000	0.74099	CGC		0.587	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		37	169	0	0	0	1	0	37	169				
PTPN23	25930	broad.mit.edu	37	3	47437686	47437686	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47437686G>T	ENST00000265562.4	+	2	215	c.138G>T	c.(136-138)aaG>aaT	p.K46N	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	46	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGAACTGAAGAAGCTGGAGT	0.453																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(136-138)aaG>aaT		protein tyrosine phosphatase, non-receptor type 23							134.0	137.0	136.0					3																	47437686		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47437686G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.138G>T	3.37:g.47437686G>T	ENSP00000265562:p.Lys46Asn					PTPN23_ENST00000431726.1_5'UTR	p.K46N	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	215	+			46			BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.138G>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320903	0.81469	.	.	ENSG00000076201	ENST00000265562	T	0.17691	2.26	5.77	3.99	0.46301	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.43152	1.355	0.80722	D	1	D	0.53151	0.958	P	0.54210	0.745	T	0.00657	-1.1623	10	0.49607	T	0.09	-25.3321	11.6316	0.51178	0.1447:0.0:0.8553:0.0	.	46	Q9H3S7	PTN23_HUMAN	N	46	ENSP00000265562:K46N	ENSP00000265562:K46N	K	+	3	2	PTPN23	47412690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.234000	0.72326	0.798000	0.33994	0.650000	0.86243	AAG		0.453	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		8	440	1	0	0.000274275	1	0.000278163	8	440				
DNAH1	25981	broad.mit.edu	37	3	52393941	52393941	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52393941C>A	ENST00000420323.2	+	27	4678	c.4417C>A	c.(4417-4419)Ctg>Atg	p.L1473M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1473	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCAGTGATCTGGTGGCCCT	0.592																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4417-4419)Ctg>Atg		dynein, axonemal, heavy chain 1							157.0	163.0	161.0					3																	52393941		2131	4242	6373	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52393941C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4417C>A	3.37:g.52393941C>A	ENSP00000401514:p.Leu1473Met						p.L1473M	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4678	+			1473			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.4417C>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494211	0.44352	.	.	ENSG00000114841	ENST00000420323	T	0.58210	0.35	5.13	3.33	0.38152	.	0.000000	0.42294	D	0.000740	T	0.68952	0.3057	M	0.85777	2.775	0.43808	D	0.996361	D	0.65815	0.995	P	0.61722	0.893	T	0.69658	-0.5086	10	0.46703	T	0.11	.	9.803	0.40775	0.0:0.7571:0.0:0.2429	.	1473	C9JXH6	.	M	1473	ENSP00000401514:L1473M	ENSP00000401514:L1473M	L	+	1	2	DNAH1	52368981	0.787000	0.28750	1.000000	0.80357	0.763000	0.43281	0.671000	0.25172	0.744000	0.32741	0.561000	0.74099	CTG		0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		188	773	1	0	9.20498e-97	1	1.18326e-96	188	773				
SMG6	23293	broad.mit.edu	37	17	2202719	2202719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202719G>T	ENST00000263073.6	-	2	1378	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y	SMG6_ENST00000544865.1_Missense_Mutation_p.S412Y	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	443	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTCCGAGATCCCTTACT	0.537																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1234-1236)tCt>tAt		SMG6 nonsense mediated mRNA decay factor							97.0	109.0	105.0					17																	2202719		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202719G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1328C>A	17.37:g.2202719G>T	ENSP00000263073:p.Ser443Tyr					SMG6_ENST00000263073.5_Missense_Mutation_p.S443Y	p.S412Y			Q86US8	EST1A_HUMAN			2	1745	-			443			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1235C>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001912	0.54254	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.09538	2.97;2.97	5.54	5.54	0.83059	.	0.498560	0.22116	N	0.064408	T	0.08802	0.0218	N	0.19112	0.55	0.26833	N	0.968548	P	0.36789	0.57	B	0.36885	0.235	T	0.18681	-1.0329	10	0.66056	D	0.02	-3.384	12.7756	0.57445	0.0749:0.0:0.9251:0.0	.	443	Q86US8	EST1A_HUMAN	Y	443;412	ENSP00000263073:S443Y;ENSP00000443920:S412Y	ENSP00000263073:S443Y	S	-	2	0	SMG6	2149469	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.268000	0.58883	2.592000	0.87571	0.650000	0.86243	TCT		0.537	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			145	791	1	0	3.57201e-63	1	4.50676e-63	145	791				
GBGT1	26301	broad.mit.edu	37	9	136030569	136030569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136030569C>T	ENST00000372040.3	-	6	666	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	RALGDS_ENST00000542690.1_Missense_Mutation_p.G131E|GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	119					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCACTTCCCCACGGCAAAC	0.592																																						ENST00000542690.1										T					CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(391-393)gGg>gAg		ral guanine nucleotide dissociation stimulator							98.0	88.0	91.0					9																	136030569		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136030569C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.355G>A	9.37:g.136030569C>T	ENSP00000361110:p.Gly119Arg					GBGT1_ENST00000372040.3_Missense_Mutation_p.G119R|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R	p.G131E			Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	672	-			60			N-terminal Ras-GEF.		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.392G>A	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.485858|2.485858	0.44147|0.44147	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040;ENST00000540636	T;T|T;T;T	0.42131|0.02579	1.87;0.98|4.96;4.24;4.24	4.98|4.98	4.09|4.09	0.47781|0.47781	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.05731|0.05731	0.0150|0.0150	M|M	0.71206|0.71206	2.165|2.165	0.58432|0.58432	D|D	0.999996|0.999996	B|P;P	0.17667|0.42357	0.023|0.777;0.777	B|B;B	0.17433|0.42738	0.018|0.396;0.396	T|T	0.22452|0.22452	-1.0216|-1.0216	10|10	0.87932|0.51188	D|T	0|0.08	.|.	8.9244|8.9244	0.35632|0.35632	0.0:0.8303:0.0:0.1697|0.0:0.8303:0.0:0.1697	.|.	131|102;119	F5H6M6|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	E|R	131|119;119;102	ENSP00000437518:G131E;ENSP00000361108:G131E|ENSP00000361113:G119R;ENSP00000361110:G119R;ENSP00000437663:G102R	ENSP00000361108:G131E|ENSP00000361110:G119R	G|G	-|-	2|1	0|0	GBGT1;RALGDS|GBGT1	135020390|135020390	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.084000|0.084000	0.17831|0.17831	4.413000|4.413000	0.59795|0.59795	1.085000|1.085000	0.41206|0.41206	-0.258000|-0.258000	0.10820|0.10820	GGG|GGG		0.592	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		23	147	0	0	0	1	0	23	147				
PUS10	150962	broad.mit.edu	37	2	61194641	61194641	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61194641C>T	ENST00000316752.6	-	6	872	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PUS10_ENST00000407787.1_Missense_Mutation_p.G204E	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	204					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CAATACCTTTCCATCAATGGG	0.373																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(610-612)gGa>gAa		pseudouridylate synthase 10							142.0	144.0	143.0					2																	61194641		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61194641C>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.611G>A	2.37:g.61194641C>T	ENSP00000326003:p.Gly204Glu					PUS10_ENST00000407787.1_Missense_Mutation_p.G204E	p.G204E	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		6	872	-			204					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.611G>A	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518527	0.85495	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.87	5.87	0.94306	.	0.326590	0.34676	N	0.003767	T	0.70290	0.3207	M	0.73962	2.25	0.80722	D	1	D	0.55172	0.97	P	0.47376	0.545	T	0.67681	-0.5608	9	0.30078	T	0.28	-20.0764	20.5827	0.99408	0.0:1.0:0.0:0.0	.	204	Q3MIT2	PUS10_HUMAN	E	204	.	ENSP00000326003:G204E	G	-	2	0	PUS10	61048145	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.303000	0.51858	2.941000	0.99782	0.655000	0.94253	GGA		0.373	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		10	743	0	0	0	1	0	10	743				
ANKHD1	54882	broad.mit.edu	37	5	139876204	139876204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876204C>T	ENST00000360839.2	+	15	2499	c.2345C>T	c.(2344-2346)aCt>aTt	p.T782I	ANKHD1_ENST00000297183.6_Missense_Mutation_p.T782I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	782						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAGGAGACTGAAGGCAAG	0.453																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2344-2346)aCt>aTt		ankyrin repeat and KH domain containing 1							98.0	93.0	94.0					5																	139876204		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139876204C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2345C>T	5.37:g.139876204C>T	ENSP00000354085:p.Thr782Ile					ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.T782I	p.T782I	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2469	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2345C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788684	0.70337	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.69040	-0.34;-0.37;-0.29;-0.37	5.76	5.76	0.90799	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	L	0.51422	1.61	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.66351	0.943;0.941;0.941	T	0.77247	-0.2658	10	0.51188	T	0.08	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	782;782;782	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	I	782;815;782;782;316;801;782	ENSP00000354085:T782I;ENSP00000297183:T782I;ENSP00000394489:T801I;ENSP00000432016:T782I	ENSP00000432016:T782I	T	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856388	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	ACT		0.453	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		86	345	0	0	0	1	0	86	345				
CBFA2T2	9139	broad.mit.edu	37	20	32212784	32212784	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212784C>A	ENST00000346541.3	+	7	1471	c.934C>A	c.(934-936)Cta>Ata	p.L312I	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L303I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	312					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAACAAGATGCTAGAGCATCG	0.473																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(934-936)Cta>Ata		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							93.0	79.0	84.0					20																	32212784		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32212784C>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.934C>A	20.37:g.32212784C>A	ENSP00000262653:p.Leu312Ile					CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.L303I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I	p.L312I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			7	1471	+			312					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.934C>A	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984649	0.35036	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45276	0.9;0.91;0.9;0.9;1.49	5.73	0.186	0.15105	.	0.492494	0.21336	N	0.076220	T	0.14570	0.0352	N	0.08118	0	0.49051	D	0.999741	P;P	0.41848	0.651;0.763	B;B	0.36845	0.212;0.234	T	0.12041	-1.0563	10	0.22109	T	0.4	-5.9758	1.2921	0.02062	0.3155:0.3121:0.2058:0.1666	.	312;303	O43439;F8W6D7	MTG8R_HUMAN;.	I	86;312;303;312;283;322	ENSP00000364428:L312I;ENSP00000345810:L303I;ENSP00000262653:L312I;ENSP00000380902:L283I;ENSP00000352622:L322I	ENSP00000345810:L303I	L	+	1	2	CBFA2T2	31676445	0.110000	0.22057	0.990000	0.47175	0.870000	0.49936	-0.432000	0.06956	-0.172000	0.10779	-0.182000	0.12963	CTA		0.473	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		58	221	1	0	4.60343e-24	1	5.25135e-24	58	221				
ZNF224	7767	broad.mit.edu	37	19	44605038	44605038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44605038C>T	ENST00000336976.6	+	4	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*	AC084219.3_ENST00000591772.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAAGCTGTATCGAGATGTGAT	0.537																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(100-102)Cga>Tga		zinc finger protein 224							213.0	193.0	200.0					19																	44605038		2203	4300	6503	SO:0001587	stop_gained	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44605038C>T	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.100C>T	19.37:g.44605038C>T	ENSP00000337368:p.Arg34*						p.R34*	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			4	354	+		Prostate(69;0.0435)	34			KRAB.		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Nonsense_Mutation	SNP	ENST00000336976.6	37	c.100C>T	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.127151	0.56721	.	.	ENSG00000186019	ENST00000336976;ENST00000269981	.	.	.	2.75	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4372	0.32795	0.2317:0.7683:0.0:0.0	.	.	.	.	X	34	.	ENSP00000269981:R34X	R	+	1	2	ZNF224	49296878	0.001000	0.12720	0.107000	0.21349	0.011000	0.07611	-0.383000	0.07398	1.521000	0.48983	0.585000	0.79938	CGA		0.537	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		185	758	0	0	0	1	0	185	758				
PRICKLE1	144165	broad.mit.edu	37	12	42862549	42862549	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42862549A>G	ENST00000455697.1	-	5	752	c.467T>C	c.(466-468)tTt>tCt	p.F156S	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	156	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAACAGACAAAACAGGATGG	0.483																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(466-468)tTt>tCt		prickle homolog 1 (Drosophila)							91.0	90.0	90.0					12																	42862549		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42862549A>G	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.467T>C	12.37:g.42862549A>G	ENSP00000401060:p.Phe156Ser					PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S	p.F156S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	5	752	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		156			LIM zinc-binding 1.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.467T>C	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	A	33	5.193653	0.94960	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.22	5.56	5.56	0.83823	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	-16.4253	16.0092	0.80385	1.0:0.0:0.0:0.0	.	156	Q96MT3	PRIC1_HUMAN	S	156	ENSP00000401060:F156S;ENSP00000398947:F156S;ENSP00000448359:F156S;ENSP00000345064:F156S;ENSP00000449819:F156S;ENSP00000447870:F156S	ENSP00000345064:F156S	F	-	2	0	PRICKLE1	41148816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.240000	0.73641	0.533000	0.62120	TTT		0.483	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			66	269	0	0	0	1	0	66	269				
CIB1	10519	broad.mit.edu	37	15	90771368	90771368	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771368C>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000332496.6_Silent_p.S669S|SEMA4B_ENST00000411539.2_Silent_p.S669S|SEMA4B_ENST00000379122.3_Silent_p.S664S	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGTAGCCAGCTACTGCCCAG	0.617																																						ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(2005-2007)agC>agT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							46.0	51.0	49.0					15																	90771368		2070	4189	6259	SO:0001628	intergenic_variant	10509							g.chr15:90771368C>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771368C>T						SEMA4B_ENST00000332496.6_Silent_p.S669S|SEMA4B_ENST00000379122.3_Silent_p.S664S	p.S669S	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		14	2267	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Silent	SNP	ENST00000328649.6	37	c.2007C>T	CCDS10360.1																																																																																				0.617	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			19	85	0	0	0	1	0	19	85				
FAIM2	23017	broad.mit.edu	37	12	50295144	50295144	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50295144G>T	ENST00000320634.3	-	2	110				FAIM2_ENST00000550890.1_De_novo_Start_InFrame	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2						apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						ATAGTCACCAGGGAAAGGGAG	0.547																																						ENST00000550890.1																			0				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14								Fas apoptotic inhibitory molecule 2							22.0	22.0	22.0					12																	50295144		2203	4300	6503	SO:0001627	intron_variant	23017				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		g.chr12:50295144G>T	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.16-36C>A	12.37:g.50295144G>T						FAIM2_ENST00000320634.3_Intron				Q9BWQ8	FAIM2_HUMAN			0	1018	-								A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Translation_Start_Site	SNP	ENST00000320634.3	37		CCDS8791.1																																																																																				0.547	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		20	136	1	0	3.51602e-12	1	3.76992e-12	20	136				
ITGA7	3679	broad.mit.edu	37	12	56092293	56092293	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092293A>G	ENST00000555728.1	-	8	1226	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H	ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000257880.7_Missense_Mutation_p.Y400H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H			Q13683	ITA7_HUMAN	integrin, alpha 7	400					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTACACATACACAGCACCC	0.607																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1198-1200)Tat>Cat		integrin, alpha 7							68.0	76.0	73.0					12																	56092293		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092293A>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1198T>C	12.37:g.56092293A>G	ENSP00000452387:p.Tyr400His					ITGA7_ENST00000555728.1_Missense_Mutation_p.Y400H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H	p.Y400H			Q13683	ITA7_HUMAN			8	1417	-			400					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1198T>C		.	.	.	.	.	.	.	.	.	.	A	21.6	4.171337	0.78452	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000003	D	0.85111	0.5622	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.87713	0.2568	10	0.87932	D	0	.	12.8385	0.57788	1.0:0.0:0.0:0.0	.	263;400;360;419	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	360;356;356;263;400;360;356;400;400	ENSP00000452120:Y360H;ENSP00000257879:Y356H;ENSP00000343009:Y356H;ENSP00000393844:Y263H;ENSP00000257880:Y400H;ENSP00000377777:Y360H;ENSP00000377776:Y356H;ENSP00000452387:Y400H	ENSP00000257879:Y356H	Y	-	1	0	ITGA7	54378560	1.000000	0.71417	0.999000	0.59377	0.702000	0.40608	9.239000	0.95389	1.988000	0.58038	0.459000	0.35465	TAT		0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		82	382	0	0	0	1	0	82	382				
PABPC3	5042	broad.mit.edu	37	13	25671076	25671076	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671076C>A	ENST00000281589.3	+	1	777	c.740C>A	c.(739-741)gCt>gAt	p.A247D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	247	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCACAGAAAGCTGTAGATGAG	0.423																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(739-741)gCt>gAt		poly(A) binding protein, cytoplasmic 3							114.0	103.0	107.0					13																	25671076		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671076C>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.740C>A	13.37:g.25671076C>A	ENSP00000281589:p.Ala247Asp						p.A247D	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	777	+		Lung SC(185;0.0225)|Breast(139;0.0602)	247			RRM 3.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.740C>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106558	0.37145	.	.	ENSG00000151846	ENST00000281589	T	0.38077	1.16	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.46758	U	0.000270	T	0.70718	0.3256	H	0.99325	4.515	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.74355	-0.3692	10	0.87932	D	0	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	247	Q9H361	PABP3_HUMAN	D	247	ENSP00000281589:A247D	ENSP00000281589:A247D	A	+	2	0	PABPC3	24569076	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	5.305000	0.65750	0.759000	0.33084	0.313000	0.20887	GCT		0.423	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		88	381	1	0	7.28744e-38	1	8.7633e-38	88	381				
MDGA2	161357	broad.mit.edu	37	14	47504353	47504353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47504353C>T	ENST00000399232.2	-	8	1837	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I|MDGA2_ENST00000426342.1_Missense_Mutation_p.M262I|MDGA2_ENST00000439988.3_Missense_Mutation_p.M560I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	491	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCCATTTGCATTGATCCAT	0.408																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(784-786)atG>atA		MAM domain containing glycosylphosphatidylinositol anchor 2							275.0	250.0	258.0					14																	47504353		1971	4173	6144	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504353C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1473G>A	14.37:g.47504353C>T	ENSP00000382178:p.Met491Ile					MDGA2_ENST00000439988.2_Missense_Mutation_p.M491I|MDGA2_ENST00000399232.2_Missense_Mutation_p.M560I|MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I	p.M262I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			8	1532	-			491			Ig-like 3.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.786G>A		.	.	.	.	.	.	.	.	.	.	C	16.68	3.189648	0.57909	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000006	T	0.41465	0.1160	N	0.04018	-0.295	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.18263	0.012;0.021	T	0.32798	-0.9893	10	0.15066	T	0.55	.	18.0085	0.89216	0.0:1.0:0.0:0.0	.	262;491	F6W3S7;Q7Z553	.;MDGA2_HUMAN	I	491;262;560;262	ENSP00000400011:M491I;ENSP00000405456:M262I;ENSP00000382178:M560I;ENSP00000349925:M262I	ENSP00000349925:M262I	M	-	3	0	MDGA2	46574103	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.608000	0.88229	0.491000	0.48974	ATG		0.408	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		35	875	0	0	0	1	0	35	875				
AFTPH	54812	broad.mit.edu	37	2	64779021	64779021	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779021T>G	ENST00000422803.1	+	2	727	c.413T>G	c.(412-414)gTg>gGg	p.V138G	AFTPH_ENST00000238856.4_Missense_Mutation_p.V138G|AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G|AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	138					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATAAAGTAGTGGAGCAGAGA	0.358																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(412-414)gTg>gGg		aftiphilin							40.0	42.0	41.0					2																	64779021		2203	4297	6500	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779021T>G	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.413T>G	2.37:g.64779021T>G	ENSP00000397726:p.Val138Gly					AFTPH_ENST00000238856.4_Missense_Mutation_p.V138G|AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G|AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G	p.V138G			Q6ULP2	AFTIN_HUMAN			2	727	+			138					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.413T>G		.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917286	0.02415	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.35	1.38	0.22167	.	1.620940	0.03161	N	0.169284	T	0.20659	0.0497	N	0.16478	0.41	0.09310	N	0.999995	B;B;P;P	0.42203	0.001;0.001;0.773;0.773	B;B;B;B	0.41894	0.001;0.002;0.369;0.369	T	0.11372	-1.0590	10	0.38643	T	0.18	6.6229	2.3047	0.04171	0.2423:0.0768:0.1397:0.5412	.	138;138;138;138	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	G	138	ENSP00000238856:V138G;ENSP00000397726:V138G;ENSP00000238855:V138G;ENSP00000387071:V138G	ENSP00000238855:V138G	V	+	2	0	AFTPH	64632525	0.906000	0.30813	0.039000	0.18376	0.810000	0.45777	0.543000	0.23237	0.422000	0.26005	0.482000	0.46254	GTG		0.358	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		57	305	0	0	0	1	0	57	305				
NLRP13	126204	broad.mit.edu	37	19	56423641	56423641	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423641A>G	ENST00000342929.3	-	5	1541	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	NLRP13_ENST00000588751.1_Silent_p.D514D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	514	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGTAGAGAGAATCAATGAAAG	0.468																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1540-1542)gaT>gaC		NLR family, pyrin domain containing 13							60.0	61.0	60.0					19																	56423641		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423641A>G	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1542T>C	19.37:g.56423641A>G						NLRP13_ENST00000342929.3_Silent_p.D514D	p.D514D			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1566	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	514			NACHT.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1542T>C	CCDS33119.1																																																																																				0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		11	352	0	0	0	1	0	11	352				
RGS9	8787	broad.mit.edu	37	17	63204111	63204111	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63204111A>C	ENST00000262406.9	+	16	1342	c.1275A>C	c.(1273-1275)gaA>gaC	p.E425D	RGS9_ENST00000443584.3_Missense_Mutation_p.E422D|RGS9_ENST00000449996.3_Missense_Mutation_p.E422D	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	425					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AACCTCAGGAAACCACCAAGA	0.413																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1264-1266)gaA>gaC		regulator of G-protein signaling 9							95.0	84.0	87.0					17																	63204111		1866	4093	5959	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63204111A>C	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1275A>C	17.37:g.63204111A>C	ENSP00000262406:p.Glu425Asp					RGS9_ENST00000443584.3_Missense_Mutation_p.E422D|RGS9_ENST00000262406.9_Missense_Mutation_p.E425D	p.E422D	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			16	1338	+			425	E -> D (in Ref. 7; AAC25430).				A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1266A>C	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464595	0.26335	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34275	1.38;1.37	5.34	-1.13	0.09775	.	0.337709	0.34507	N	0.003904	T	0.31702	0.0805	L	0.55481	1.735	0.27741	N	0.944487	B;B;B	0.31548	0.258;0.22;0.328	B;B;B	0.33196	0.159;0.1;0.132	T	0.33369	-0.9871	10	0.52906	T	0.07	.	12.3179	0.54969	0.4618:0.0:0.5382:0.0	.	425;425;422	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	D	425;422	ENSP00000262406:E425D;ENSP00000396329:E422D	ENSP00000262406:E425D	E	+	3	2	RGS9	60634573	0.993000	0.37304	0.987000	0.45799	0.738000	0.42128	1.044000	0.30329	-0.097000	0.12307	-0.250000	0.11733	GAA		0.413	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		53	225	0	0	0	1	0	53	225				
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.G771G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	797					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2389-2391)ggC>ggT		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							63.0	61.0	62.0					12																	31255888		2203	4300	6503	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255888C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2391C>T	12.37:g.31255888C>T		Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000542838.1_Silent_p.G797G	p.G797G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			24	2642	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		797					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.2391C>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965738	0.18583	.	.	ENSG00000013573	ENST00000539702	.	.	.	3.29	2.36	0.29203	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	5.4916	0.16779	0.2209:0.541:0.2381:0.0	.	.	.	.	V	63	.	.	A	+	2	0	DDX11	31147155	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.767000	0.26575	0.538000	0.28769	0.505000	0.49811	GCA		0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		38	224	0	0	0	1	0	38	224				
PCDHA12	56137	broad.mit.edu	37	5	140255355	140255355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140255355G>A	ENST00000398631.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGCGGAGTGCAG	0.567																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(298-300)Gcg>Acg									115.0	131.0	126.0					5																	140255355		2203	4300	6503	SO:0001583	missense	0							g.chr5:140255355G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.298G>A	5.37:g.140255355G>A	ENSP00000381628:p.Ala100Thr					PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.A100T	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	298	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.298G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085756	0.20390	.	.	ENSG00000251664	ENST00000398631	T	0.27104	1.69	5.28	-5.31	0.02730	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.13030	0.0316	L	0.35793	1.09	0.09310	N	1	B;B	0.31026	0.078;0.304	B;B	0.15870	0.005;0.014	T	0.15407	-1.0438	9	0.36615	T	0.2	.	4.4904	0.11810	0.2499:0.3713:0.2996:0.0792	.	100;100	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	100	ENSP00000381628:A100T	ENSP00000381628:A100T	A	+	1	0	PCDHA12	140235539	0.000000	0.05858	0.012000	0.15200	0.765000	0.43378	-3.388000	0.00488	-0.988000	0.03489	-1.031000	0.02408	GCG		0.567	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		53	1374	0	0	0	1	0	53	1374				
ITGB4	3691	broad.mit.edu	37	17	73745092	73745092	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73745092G>T	ENST00000200181.3	+	27	3469	c.3282G>T	c.(3280-3282)caG>caT	p.Q1094H	ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1094					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCCAGCCCCACTCCA	0.637																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3280-3282)caG>caT		integrin, beta 4							27.0	30.0	29.0					17																	73745092		2202	4300	6502	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73745092G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3282G>T	17.37:g.73745092G>T	ENSP00000200181:p.Gln1094His					ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H	p.Q1094H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		27	3469	+	all_cancers(13;1.5e-07)		1094					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3282G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899867	0.33535	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.27402	1.67;1.67;1.67	5.45	-1.39	0.08997	.	0.230210	0.37348	N	0.002134	T	0.21227	0.0511	N	0.24115	0.695	0.30210	N	0.797787	P;P;P	0.51057	0.941;0.744;0.835	P;B;P	0.50860	0.652;0.252;0.45	T	0.17077	-1.0381	10	0.72032	D	0.01	.	2.7314	0.05228	0.5264:0.1284:0.2149:0.1304	.	1094;1094;1094	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	1094	ENSP00000200181:Q1094H;ENSP00000344079:Q1094H;ENSP00000400217:Q1094H	ENSP00000200181:Q1094H	Q	+	3	2	ITGB4	71256687	0.422000	0.25473	0.998000	0.56505	0.939000	0.58152	-0.305000	0.08188	0.041000	0.15688	0.650000	0.86243	CAG		0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			22	141	1	0	6.36457e-07	1	6.58826e-07	22	141				
DUPD1	338599	broad.mit.edu	37	10	76803669	76803669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76803669C>T	ENST00000338487.5	-	2	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	103	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATGTCCATGTCGCGGTAGTAG	0.657																																						ENST00000338487.5																			0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(307-309)Gac>Aac		dual specificity phosphatase and pro isomerase domain containing 1							93.0	85.0	88.0					10																	76803669		2203	4300	6503	SO:0001583	missense	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76803669C>T		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.307G>A	10.37:g.76803669C>T	ENSP00000340609:p.Asp103Asn						p.D103N	NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN			2	306	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		103			Tyrosine-protein phosphatase.		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	c.307G>A	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377292	0.42105	.	.	ENSG00000188716	ENST00000338487	T	0.61158	0.13	4.93	4.02	0.46733	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.052989	0.64402	D	0.000001	T	0.51176	0.1659	L	0.59967	1.855	0.51482	D	0.999928	B	0.23591	0.088	B	0.19666	0.026	T	0.45644	-0.9247	10	0.29301	T	0.29	-37.7159	11.4852	0.50350	0.0:0.8483:0.0:0.1517	.	103	Q68J44	DUPD1_HUMAN	N	103	ENSP00000340609:D103N	ENSP00000340609:D103N	D	-	1	0	DUPD1	76473675	0.998000	0.40836	0.994000	0.49952	0.446000	0.32137	3.767000	0.55288	1.055000	0.40461	0.650000	0.86243	GAC		0.657	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		16	472	0	0	0	1	0	16	472				
ZNF608	57507	broad.mit.edu	37	5	123984658	123984658	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:123984658G>T	ENST00000306315.5	-	4	1854	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	473							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)		TGGCATTGAGGCTGCCCCGCC	0.592																																						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.(1417-1419)agC>agA		zinc finger protein 608							75.0	77.0	76.0					5																	123984658		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984658G>T	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.1419C>A	5.37:g.123984658G>T	ENSP00000307746:p.Ser473Arg					ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	p.S473R	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	1854	-		all_cancers(142;0.186)|Prostate(80;0.081)	473					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1419C>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158379	0.78114	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.53640	0.64;0.61	5.26	4.36	0.52297	.	0.092629	0.85682	D	0.000000	T	0.45074	0.1324	L	0.45137	1.4	0.44036	D	0.996768	P	0.44429	0.835	B	0.44224	0.444	T	0.47086	-0.9144	10	0.72032	D	0.01	-19.4122	12.8537	0.57873	0.0817:0.0:0.9183:0.0	.	473	Q9ULD9	ZN608_HUMAN	R	46;473;473;473	ENSP00000427657:S46R;ENSP00000307746:S473R	ENSP00000307746:S473R	S	-	3	2	ZNF608	124012557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.743000	0.47442	1.161000	0.42604	0.544000	0.68410	AGC		0.592	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		104	482	1	0	9.81067e-33	1	1.16009e-32	104	482				
MYOT	9499	broad.mit.edu	37	5	137219167	137219167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137219167G>A	ENST00000239926.4	+	7	1285	c.911G>A	c.(910-912)gGt>gAt	p.G304D	MYOT_ENST00000515645.1_Missense_Mutation_p.G189D|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	304	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTGAGAAGGGTCTTCATTCA	0.448																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(910-912)gGt>gAt		myotilin							128.0	120.0	123.0					5																	137219167		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219167G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.911G>A	5.37:g.137219167G>A	ENSP00000239926:p.Gly304Asp					RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.G189D|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|MYOT_ENST00000509812.1_Intron	p.G304D	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1285	+			304			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.911G>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203947	0.95033	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66995	-0.24;-0.24;-0.24	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80565	0.4647	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81899	-0.0721	10	0.62326	D	0.03	.	18.8467	0.92210	0.0:0.0:1.0:0.0	.	304	Q9UBF9	MYOTI_HUMAN	D	304;120;189	ENSP00000239926:G304D;ENSP00000391185:G120D;ENSP00000426281:G189D	ENSP00000239926:G304D	G	+	2	0	MYOT	137247066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.497000	0.84241	0.655000	0.94253	GGT		0.448	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		90	392	0	0	0	1	0	90	392				
CXorf40B	541578	broad.mit.edu	37	X	149100935	149100935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149100935C>T	ENST00000370406.3	-	5	1132	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N|CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	102										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ACAACCTCATCGGGAGTTAAG	0.473																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(304-306)Gat>Aat		chromosome X open reading frame 40B							135.0	120.0	125.0					X																	149100935		2200	4299	6499	SO:0001583	missense	541578							g.chrX:149100935C>T	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.304G>A	X.37:g.149100935C>T	ENSP00000359434:p.Asp102Asn					CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N|CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N|CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N	p.D102N			Q96DE9	CX04B_HUMAN			5	1132	-	Acute lymphoblastic leukemia(192;6.56e-05)		102						Missense_Mutation	SNP	ENST00000370406.3	37	c.304G>A	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	c	0.900	-0.722721	0.03158	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	3.22	-0.0889	0.13671	PUA-like domain (1);	1.024090	0.07763	N	0.950486	T	0.21062	0.0507	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30707	-0.9969	10	0.34782	T	0.22	-0.026	4.5761	0.12234	0.0:0.4414:0.3349:0.2237	.	102	Q96DE9	CX04B_HUMAN	N	102	ENSP00000417546:D102N;ENSP00000359434:D102N;ENSP00000347339:D102N;ENSP00000359432:D102N	ENSP00000347339:D102N	D	-	1	0	CXorf40B	148851593	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.764000	0.26532	-0.477000	0.06832	-0.731000	0.03576	GAT		0.473	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		22	225	0	0	0	1	0	22	225				
ARID1A	8289	broad.mit.edu	37	1	27059196	27059196	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27059196G>T	ENST00000324856.7	+	4	2204	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGGTCTCAGGCATCCTCAG	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1831-1833)caG>caT		AT rich interactive domain 1A (SWI-like)							138.0	121.0	127.0					1																	27059196		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059196G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1833G>T	1.37:g.27059196G>T	ENSP00000320485:p.Gln611His					ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H	p.Q611H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2204	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	611					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1833G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332250	0.41297	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02737	4.38;4.18;4.22	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	L	0.57536	1.79	0.80722	D	1	P;D;P	0.54601	0.944;0.967;0.944	P;P;P	0.52217	0.497;0.693;0.497	T	0.04946	-1.0916	10	0.49607	T	0.09	-6.0683	9.9444	0.41600	0.151:0.0:0.849:0.0	.	611;611;265	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	H	611;611;228	ENSP00000320485:Q611H;ENSP00000387636:Q611H;ENSP00000363267:Q228H	ENSP00000320485:Q611H	Q	+	3	2	ARID1A	26931783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.698000	0.47068	2.592000	0.87571	0.491000	0.48974	CAG		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		52	290	1	0	9.72345e-25	1	1.11288e-24	52	290				
SLC1A7	6512	broad.mit.edu	37	1	53556405	53556405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53556405C>T	ENST00000371494.4	-	8	1232	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	369					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		ACGGGCAGCACGAAGCGAGCG	0.617																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1105-1107)Gtg>Atg		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						118.0	83.0	95.0					1																	53556405		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53556405C>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1105G>A	1.37:g.53556405C>T	ENSP00000360549:p.Val369Met					SLC1A7_ENST00000488036.1_5'UTR	p.V369M	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	8	1232	-			369					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.1105G>A	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191525	0.78902	.	.	ENSG00000162383	ENST00000371494	T	0.66460	-0.21	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	H	0.95712	3.71	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.89565	0.3809	10	0.72032	D	0.01	-3.4286	13.9422	0.64062	0.0:0.9265:0.0:0.0735	.	369	O00341	EAA5_HUMAN	M	369	ENSP00000360549:V369M	ENSP00000360549:V369M	V	-	1	0	SLC1A7	53328993	1.000000	0.71417	0.937000	0.37676	0.715000	0.41141	6.089000	0.71384	1.263000	0.44181	0.313000	0.20887	GTG		0.617	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		5	138	0	0	0	1	0	5	138				
TRIM56	81844	broad.mit.edu	37	7	100730866	100730866	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730866T>C	ENST00000306085.6	+	3	570	c.273T>C	c.(271-273)tgT>tgC	p.C91C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	91					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCGGGCCTGTGGAGACCTGC	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(271-273)tgT>tgC		tripartite motif containing 56							31.0	39.0	37.0					7																	100730866		2122	4226	6348	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730866T>C	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.273T>C	7.37:g.100730866T>C							p.C91C	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	570	+	Lung NSC(181;0.136)|all_lung(186;0.182)		91					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.273T>C	CCDS43625.1																																																																																				0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		94	453	0	0	0	1	0	94	453				
POU6F1	5463	broad.mit.edu	37	12	51589917	51589917	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51589917C>T	ENST00000389243.4	-	8	1024	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M|POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	29	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGGCCGCCACACTAGCTGAG	0.617																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(85-87)Gtg>Atg		POU class 6 homeobox 1							19.0	21.0	20.0					12																	51589917		2199	4296	6495	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51589917C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.85G>A	12.37:g.51589917C>T	ENSP00000373895:p.Val29Met					POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M|POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M	p.V29M			Q14863	PO6F1_HUMAN			8	1024	-			29			Gln/Pro-rich.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.85G>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443141	0.43326	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824;ENST00000547855	D;D;D	0.85484	-1.99;-1.99;-1.99	5.5	2.01	0.26516	.	2.733070	0.01422	N	0.014403	T	0.76652	0.4017	N	0.22421	0.69	0.23356	N	0.997846	B	0.11235	0.004	B	0.11329	0.006	T	0.62515	-0.6838	10	0.38643	T	0.18	.	5.3209	0.15881	0.0:0.5829:0.1638:0.2533	.	29	Q14863	PO6F1_HUMAN	M	29	ENSP00000373895:V29M;ENSP00000330190:V29M;ENSP00000448389:V29M	ENSP00000330190:V29M	V	-	1	0	POU6F1	49876184	0.000000	0.05858	0.982000	0.44146	0.989000	0.77384	-0.065000	0.11617	1.333000	0.45449	0.555000	0.69702	GTG		0.617	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		12	87	0	0	0	1	0	12	87				
HSD17B4	3295	broad.mit.edu	37	5	118861665	118861665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118861665C>T	ENST00000256216.6	+	19	1760	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.R568C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R525C	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	543	Enoyl-CoA hydratase 2.|MaoC-like.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTCTGCCAGGCGTGTGTTACA	0.343																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1702-1704)Cgt>Tgt		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						178.0	171.0	173.0					5																	118861665		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118861665C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1627C>T	5.37:g.118861665C>T	ENSP00000256216:p.Arg543Cys					HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000256216.6_Missense_Mutation_p.R543C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R525C	p.R568C	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	20	1886	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	543			Enoyl-CoA hydratase 2.|MaoC-like.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1702C>T	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447464	0.84101	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.21	5.21	0.72293	MaoC-like dehydratase (1);	0.140082	0.64402	D	0.000005	T	0.79167	0.4400	N	0.10916	0.065	0.48696	D	0.999692	D;D;D;D;D	0.76494	0.999;0.959;0.994;0.994;0.977	P;P;B;P;B	0.60012	0.825;0.796;0.294;0.867;0.294	D	0.83981	0.0332	10	0.72032	D	0.01	-13.1573	17.5177	0.87779	0.0:1.0:0.0:0.0	.	568;525;519;281;543	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	543;525;519;568;403;406;281	ENSP00000256216:R543C;ENSP00000424613:R525C;ENSP00000424940:R519C;ENSP00000420914:R568C;ENSP00000411960:R403C;ENSP00000425993:R406C;ENSP00000426272:R281C	ENSP00000256216:R543C	R	+	1	0	HSD17B4	118889564	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.714000	0.61902	2.433000	0.82419	0.591000	0.81541	CGT		0.343	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		81	448	0	0	0	1	0	81	448				
PHLPP2	23035	broad.mit.edu	37	16	71692594	71692594	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71692594T>C	ENST00000568954.1	-	14	2488	c.2110A>G	c.(2110-2112)Agc>Ggc	p.S704G	PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S637G|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	704					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGAAAATGCTGATGTTGTTG	0.458																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1909-1911)Agc>Ggc		PH domain and leucine rich repeat protein phosphatase 2							277.0	244.0	255.0					16																	71692594		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71692594T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2110A>G	16.37:g.71692594T>C	ENSP00000457991:p.Ser704Gly					PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S704G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|RP11-432I5.6_ENST00000567077.1_RNA	p.S637G			Q6ZVD8	PHLP2_HUMAN			12	2642	-			704					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.1909A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972492	0.74246	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T	0.26373	1.74;2.11;2.08	5.82	5.82	0.92795	.	0.040777	0.85682	D	0.000000	T	0.30823	0.0777	N	0.19112	0.55	0.51012	D	0.999909	D;P	0.56968	0.978;0.919	P;B	0.56343	0.796;0.35	T	0.04593	-1.0940	10	0.44086	T	0.13	-18.2593	15.3644	0.74510	0.0:0.0:0.0:1.0	.	637;704	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	511;704;704;637	ENSP00000353610:S704G;ENSP00000348611:S704G;ENSP00000377159:S637G	ENSP00000299971:S511G	S	-	1	0	PHLPP2	70250095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.157000	0.64911	2.228000	0.72767	0.533000	0.62120	AGC		0.458	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		118	463	0	0	0	1	0	118	463				
KMT2C	58508	broad.mit.edu	37	7	151878579	151878579	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878579T>C	ENST00000262189.6	-	36	6584	c.6366A>G	c.(6364-6366)atA>atG	p.I2122M	KMT2C_ENST00000355193.2_Missense_Mutation_p.I2122M	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2122	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGGCCTTGATATGGTTCCAG	0.483																																						ENST00000355193.2																			0											c.(6364-6366)atA>atG		lysine (K)-specific methyltransferase 2C							109.0	112.0	111.0					7																	151878579		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878579T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6366A>G	7.37:g.151878579T>C	ENSP00000262189:p.Ile2122Met					KMT2C_ENST00000262189.6_Missense_Mutation_p.I2122M	p.I2122M							36	6584	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6366A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	7.288	0.610557	0.14066	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82984	-1.66;-1.67	5.38	0.13	0.14746	.	0.283649	0.24771	N	0.035737	T	0.64505	0.2604	N	0.25144	0.715	0.19300	N	0.999974	B;B	0.23316	0.083;0.032	B;B	0.14023	0.01;0.008	T	0.48536	-0.9027	10	0.30854	T	0.27	.	3.8341	0.08886	0.3223:0.2846:0.0:0.393	.	2122;1183	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	M	2122	ENSP00000262189:I2122M;ENSP00000347325:I2122M	ENSP00000262189:I2122M	I	-	3	3	MLL3	151509512	0.292000	0.24362	0.896000	0.35187	0.990000	0.78478	-0.692000	0.05127	0.038000	0.15604	0.460000	0.39030	ATA		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			61	308	0	0	0	1	0	61	308				
SFI1	9814	broad.mit.edu	37	22	32003945	32003945	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32003945C>A	ENST00000400288.2	+	22	2285	c.2180C>A	c.(2179-2181)gCt>gAt	p.A727D	SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D|SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000432498.1_Missense_Mutation_p.A696D	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	727					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGCGGGAAGCTGTGTCAGTG	0.607																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2086-2088)gCt>gAt		Sfi1 homolog, spindle assembly associated (yeast)							48.0	54.0	52.0					22																	32003945		2071	4211	6282	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32003945C>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2180C>A	22.37:g.32003945C>A	ENSP00000383145:p.Ala727Asp					SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000400288.2_Missense_Mutation_p.A727D	p.A696D	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			21	2480	+			727					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.2087C>A	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644410	0.29246	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16073	2.92;2.92;2.75;2.77;2.77;2.75;2.92;2.37	5.08	1.67	0.24075	.	0.464849	0.24111	N	0.041452	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	P;P;B;P;P	0.46987	0.888;0.773;0.302;0.789;0.573	P;B;B;P;B	0.47915	0.561;0.3;0.109;0.48;0.3	T	0.12268	-1.0554	10	0.62326	D	0.03	.	2.7705	0.05333	0.2125:0.4995:0.0:0.2879	.	672;633;645;696;727	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	D	696;672;645;574;574;645;727;310	ENSP00000402679:A696D;ENSP00000443025:A672D;ENSP00000416469:A645D;ENSP00000397148:A574D;ENSP00000401199:A574D;ENSP00000383146:A645D;ENSP00000383145:A727D;ENSP00000398871:A310D	ENSP00000383145:A727D	A	+	2	0	SFI1	30333945	0.020000	0.18652	0.144000	0.22314	0.059000	0.15707	-0.020000	0.12525	0.138000	0.18790	-1.288000	0.01363	GCT		0.607	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		18	128	1	0	1.9806e-07	1	2.05782e-07	18	128				
GRID2	2895	broad.mit.edu	37	4	94344105	94344105	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94344105G>A	ENST00000282020.4	+	10	1789	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	511					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTGGTAGGAGAACTTGTCTT	0.368																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1531-1533)Gaa>Aaa		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						102.0	100.0	101.0					4																	94344105		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344105G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1531G>A	4.37:g.94344105G>A	ENSP00000282020:p.Glu511Lys					GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	p.E511K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1789	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	511					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1531G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286897	0.95517	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27256	1.68;1.68	5.55	5.55	0.83447	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.87578	0.994;0.998	T	0.53373	-0.8448	10	0.87932	D	0	.	19.4969	0.95077	0.0:0.0:1.0:0.0	.	416;511	E9PH24;O43424	.;GRID2_HUMAN	K	511;416	ENSP00000282020:E511K;ENSP00000421257:E416K	ENSP00000282020:E511K	E	+	1	0	GRID2	94563128	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	9.864000	0.99589	2.611000	0.88343	0.650000	0.86243	GAA		0.368	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			51	204	0	0	0	1	0	51	204				
DVL2	1856	broad.mit.edu	37	17	7133391	7133391	+	Missense_Mutation	SNP	C	C	T	rs144205338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7133391C>T	ENST00000005340.5	-	4	776	c.494G>A	c.(493-495)cGc>cAc	p.R165H	DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	165					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCTCTCCTGCGAGGCCGCTC	0.642																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(493-495)cGc>cAc		dishevelled segment polarity protein 2							47.0	44.0	45.0					17																	7133391		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7133391C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.494G>A	17.37:g.7133391C>T	ENSP00000005340:p.Arg165His					DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	p.R165H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			4	776	-			165					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.494G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495159	0.85069	.	.	ENSG00000004975	ENST00000005340	T	0.04970	3.52	5.32	5.32	0.75619	Dishevelled protein domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.56280	1.765	0.47341	D	0.999391	D;D;D;D	0.89917	1.0;0.977;1.0;1.0	D;P;D;D	0.87578	0.998;0.581;0.997;0.97	T	0.00759	-1.1578	10	0.32370	T	0.25	-14.4293	10.0093	0.41977	0.0:0.9077:0.0:0.0923	.	72;159;165;165	B4DM44;B4DLQ0;B4E2D6;O14641	.;.;.;DVL2_HUMAN	H	165	ENSP00000005340:R165H	ENSP00000005340:R165H	R	-	2	0	DVL2	7074115	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.760000	0.68793	2.492000	0.84095	0.609000	0.83330	CGC		0.642	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		14	295	0	0	0	1	0	14	295				
RHOBTB3	22836	broad.mit.edu	37	5	95072759	95072759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95072759C>T	ENST00000379982.3	+	3	903	c.395C>T	c.(394-396)gCt>gTt	p.A132V		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	132	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATTATTGCTGCTGTTGGTACC	0.269																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(394-396)gCt>gTt		Rho-related BTB domain containing 3							71.0	75.0	74.0					5																	95072759		2203	4299	6502	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95072759C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.395C>T	5.37:g.95072759C>T	ENSP00000369318:p.Ala132Val						p.A132V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	3	903	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	132			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.395C>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151418	0.94645	.	.	ENSG00000164292	ENST00000506959;ENST00000379982	T;T	0.71461	-0.57;-0.57	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.84314	0.0512	10	0.62326	D	0.03	-17.047	20.1013	0.97878	0.0:1.0:0.0:0.0	.	132	O94955	RHBT3_HUMAN	V	138;132	ENSP00000423688:A138V;ENSP00000369318:A132V	ENSP00000369318:A132V	A	+	2	0	RHOBTB3	95098515	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.757000	0.68766	2.841000	0.97950	0.637000	0.83480	GCT		0.269	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		55	277	0	0	0	1	0	55	277				
VAV1	7409	broad.mit.edu	37	19	6836997	6836997	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6836997G>A	ENST00000602142.1	+	21	1998	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D	VAV1_ENST00000596764.1_Splice_Site_p.G607D|VAV1_ENST00000539284.1_Splice_Site_p.G542D|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000599806.1_Splice_Site_p.G584D	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	639	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGTGTTTAGGGCAGAAATACA	0.473																																						ENST00000596764.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.e20-1		vav 1 guanine nucleotide exchange factor							163.0	160.0	161.0					19																	6836997		2203	4300	6503	SO:0001630	splice_region_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6836997G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1915-1G>A	19.37:g.6836997G>A						VAV1_ENST00000602142.1_Splice_Site_p.G639_splice|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000599806.1_Splice_Site_p.G584_splice|VAV1_ENST00000539284.1_Splice_Site_p.G542_splice	p.G607_splice	NM_001258207.1	NP_001245136.1	P15498	VAV_HUMAN			20	1900	+			639					B4DVK9|M0QXX6|Q15860	Splice_Site	SNP	ENST00000602142.1	37	c.1818_splice	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092902	0.56075	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.58940	0.67;0.3	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.88704	2.975	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.967;0.987;0.998	D	0.83437	0.0041	10	0.59425	D	0.04	.	15.7303	0.77794	0.0:0.0:1.0:0.0	.	542;584;639	F5H5P4;Q96D37;P15498	.;.;VAV_HUMAN	D	639;542	ENSP00000302269:G639D;ENSP00000443242:G542D	ENSP00000302269:G639D	G	+	2	0	VAV1	6787997	1.000000	0.71417	0.999000	0.59377	0.294000	0.27393	7.495000	0.81514	2.307000	0.77673	0.478000	0.44815	GGC		0.473	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		Missense_Mutation	94	572	0	0	0	1	0	94	572				
STX4	6810	broad.mit.edu	37	16	31051083	31051083	+	Missense_Mutation	SNP	G	G	A	rs149552887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31051083G>A	ENST00000313843.3	+	10	1168	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.V283I	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	285	Interaction with CENPF. {ECO:0000250}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CATCACCGTCGTCCTCCTAGC	0.602																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(847-849)Gtc>Atc		syntaxin 4							328.0	246.0	274.0					16																	31051083		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31051083G>A	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.853G>A	16.37:g.31051083G>A	ENSP00000317714:p.Val285Ile					STX4_ENST00000313843.3_Missense_Mutation_p.V285I|STX4_ENST00000493902.1_3'UTR	p.V283I	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			11	1190	+			285			Interaction with CENPF (By similarity).		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.847G>A	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.075803	0.01903	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.34667	1.35;1.55	6.08	1.95	0.26073	.	0.454422	0.23652	N	0.045909	T	0.14442	0.0349	N	0.03281	-0.365	0.21553	N	0.999647	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28459	-1.0043	10	0.10636	T	0.68	-4.7427	11.2572	0.49060	0.2188:0.3492:0.432:0.0	.	285;283	Q12846;A8MXY0	STX4_HUMAN;.	I	283;285	ENSP00000378447:V283I;ENSP00000317714:V285I	ENSP00000317714:V285I	V	+	1	0	STX4	30958584	0.998000	0.40836	0.707000	0.30419	0.044000	0.14063	0.405000	0.21015	0.153000	0.19213	-0.882000	0.02950	GTC		0.602	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		216	910	0	0	0	1	0	216	910				
NBR2	10230	broad.mit.edu	37	17	41290806	41290806	+	RNA	SNP	G	G	A	rs373865744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41290806G>A	ENST00000460115.1	+	0	357					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		agcagcaggcgtgcaggctct	0.582																																						ENST00000460115.1																			0															G		1,3135		0,1,1567	59.0	54.0	56.0			-0.3	0.0	17		56	0,7164		0,0,3582	no	intergenic				0,1,5149	AA,AG,GG		0.0,0.0319,0.0097			41290806	1,10299	1568	3582	5150			0							g.chr17:41290806G>A	U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41290806G>A								NR_003108.1						0	357	+								Q3LRJ7	RNA	SNP	ENST00000460115.1	37			.	.	.	.	.	.	.	.	.	.	g	4.351	0.064524	0.08388	3.19E-4	0.0	ENSG00000198496	ENST00000356906	.	.	.	0.745	-0.337	0.12654	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25467	-1.0131	5	0.36615	T	0.2	.	3.054	0.06179	0.3502:0.0:0.6498:0.0	.	.	.	.	H	17	.	ENSP00000349375:R17H	R	+	2	0	NBR2	38544332	0.279000	0.24239	0.016000	0.15963	0.015000	0.08874	0.132000	0.15891	-0.082000	0.12640	0.442000	0.29010	CGT		0.582	NBR2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000277175.1	NR_003108		11	235	0	0	0	1	0	11	235				
SYNGR1	9145	broad.mit.edu	37	22	39777719	39777719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39777719G>T	ENST00000328933.5	+	4	517	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	168	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGCTGTGCTGGCCTTCCAGCG	0.652																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(502-504)Gcc>Tcc		synaptogyrin 1							37.0	39.0	38.0					22																	39777719		2203	4300	6503	SO:0001583	missense	9145							g.chr22:39777719G>T	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.502G>T	22.37:g.39777719G>T	ENSP00000332287:p.Ala168Ser						p.A168S	NM_004711.4	NP_004702.2					4	517	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	37	c.502G>T	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733179	0.69189	.	.	ENSG00000100321	ENST00000328933	T	0.72282	-0.64	4.52	4.52	0.55395	Marvel (1);	0.159554	0.53938	D	0.000052	T	0.68137	0.2968	M	0.66378	2.025	0.80722	D	1	B	0.34200	0.441	B	0.28553	0.091	T	0.71820	-0.4477	10	0.46703	T	0.11	.	17.4528	0.87597	0.0:0.0:1.0:0.0	.	168	O43759	SNG1_HUMAN	S	168	ENSP00000332287:A168S	ENSP00000332287:A168S	A	+	1	0	SYNGR1	38107665	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.249000	0.95470	2.341000	0.79615	0.462000	0.41574	GCC		0.652	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		77	320	1	0	2.26256e-52	1	2.81376e-52	77	320				
NDUFB9	4715	broad.mit.edu	37	8	125555516	125555516	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125555516A>G	ENST00000276689.3	+	2	374	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C|NDUFB9_ENST00000522532.1_Missense_Mutation_p.Y97C	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	97					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TACGATTGCTACAAGGTAGGT	0.493																																						ENST00000522532.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(289-291)tAc>tGc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	NADH(DB00157)						80.0	73.0	75.0					8																	125555516		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555516A>G	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.290A>G	8.37:g.125555516A>G	ENSP00000276689:p.Tyr97Cys					NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000276689.3_Missense_Mutation_p.Y97C|NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C	p.Y97C			Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	337	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		97					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.290A>G	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981916	0.74474	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.83673	-0.71;-1.75;-1.75;-0.69	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	M	0.73962	2.25	0.80722	D	1	B;D	0.89917	0.178;1.0	B;D	0.66979	0.076;0.948	D	0.90846	0.4727	10	0.56958	D	0.05	-18.4647	15.5444	0.76086	1.0:0.0:0.0:0.0	.	97;97	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	C	97;97;97;86	ENSP00000276689:Y97C;ENSP00000428282:Y97C;ENSP00000431115:Y97C;ENSP00000430322:Y86C	ENSP00000276689:Y97C	Y	+	2	0	NDUFB9	125624697	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.852000	0.92215	2.070000	0.61991	0.533000	0.62120	TAC		0.493	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		13	247	0	0	0	1	0	13	247				
PRDM15	63977	broad.mit.edu	37	21	43274842	43274842	+	Missense_Mutation	SNP	G	G	A	rs368907707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43274842G>A	ENST00000269844.3	-	12	1579	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000422911.1_Missense_Mutation_p.A161V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A161V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	490	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCGGCCTCCGCCGCTGGCCG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18524	0.001		0.0	False		,,,				2504	0.0					ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(481-483)gCg>gTg		PR domain containing 15		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	52.0	43.0	46.0		482,1469	-1.9	0.0	21		46	0,8600		0,0,4300	no	missense,missense	PRDM15	NM_001040424.1,NM_022115.3	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	161/1179,490/1508	43274842	1,13005	2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43274842G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1469C>T	21.37:g.43274842G>A	ENSP00000269844:p.Ala490Val					PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V|PRDM15_ENST00000269844.3_Missense_Mutation_p.A490V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A161V	p.A161V			P57071	PRD15_HUMAN			5	583	-			490					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.482C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155572	0.21454	2.27E-4	0.0	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.74	-1.94	0.07571	SET domain (2);	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.17653	-1.0362	9	0.32370	T	0.25	-16.3261	6.0163	0.19605	0.2206:0.0:0.5366:0.2428	.	490;161;161	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	161;161;124;124;490;124	ENSP00000408592:A161V;ENSP00000381556:A161V;ENSP00000444044:A124V;ENSP00000390245:A124V;ENSP00000269844:A490V	ENSP00000269844:A490V	A	-	2	0	PRDM15	42147911	0.000000	0.05858	0.005000	0.12908	0.600000	0.36913	0.115000	0.15540	-0.382000	0.07870	0.655000	0.94253	GCG		0.647	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		7	314	0	0	0	1	0	7	314				
KCNH3	23416	broad.mit.edu	37	12	49948160	49948160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49948160G>T	ENST00000257981.6	+	11	2219	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	653					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCGGCGGGAGCAGGTGGTAA	0.637																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1957-1959)gaG>gaT		potassium voltage-gated channel, subfamily H (eag-related), member 3							72.0	78.0	76.0					12																	49948160		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49948160G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1959G>T	12.37:g.49948160G>T	ENSP00000257981:p.Glu653Asp						p.E653D	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			11	2219	+			653					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1959G>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	7.062	0.566553	0.13560	.	.	ENSG00000135519	ENST00000257981	D	0.96427	-4.01	4.81	1.93	0.25924	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.47455	D	0.000228	D	0.82536	0.5058	N	0.01751	-0.74	0.33808	D	0.627452	B	0.02656	0.0	B	0.04013	0.001	T	0.76503	-0.2935	10	0.02654	T	1	.	3.61	0.08057	0.2804:0.0:0.5456:0.174	.	653	Q9ULD8	KCNH3_HUMAN	D	653	ENSP00000257981:E653D	ENSP00000257981:E653D	E	+	3	2	KCNH3	48234427	0.895000	0.30542	0.999000	0.59377	0.992000	0.81027	-0.060000	0.11712	0.697000	0.31718	0.563000	0.77884	GAG		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		158	680	1	0	6.51197e-75	1	8.30091e-75	158	680				
CD274	29126	broad.mit.edu	37	9	5467858	5467858	+	Missense_Mutation	SNP	C	C	T	rs369350813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5467858C>T	ENST00000381577.3	+	7	955	c.869C>T	c.(868-870)aCg>aTg	p.T290M	CD274_ENST00000381573.4_Missense_Mutation_p.T176M|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	290					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTGGAGGAGACGTAATCCAGC	0.423			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																	ENST00000381577.3				Dom	yes		9	9p24	29126	T	CD274 molecule			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(868-870)aCg>aTg		CD274 molecule		C	MET/THR	0,4406		0,0,2203	98.0	85.0	89.0		869	3.3	1.0	9		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD274	NM_014143.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	290/291	5467858	1,13005	2203	4300	6503	SO:0001583	missense	29126				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity	g.chr9:5467858C>T	AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.869C>T	9.37:g.5467858C>T	ENSP00000370989:p.Thr290Met					CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.T176M	p.T290M	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)	7	955	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	290					B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	c.869C>T	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918869	0.52546	0.0	1.16E-4	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.37584	1.19;5.04	4.21	3.27	0.37495	.	.	.	.	.	T	0.48187	0.1486	L	0.44542	1.39	0.32055	N	0.596435	D;D	0.89917	1.0;0.998	D;P	0.83275	0.996;0.791	T	0.54977	-0.8212	9	0.87932	D	0	-29.1992	7.9256	0.29872	0.0:0.8728:0.0:0.1272	.	176;290	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	M	176;290	ENSP00000370985:T176M;ENSP00000370989:T290M	ENSP00000370985:T176M	T	+	2	0	CD274	5457858	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.939000	0.40213	1.010000	0.39314	0.491000	0.48974	ACG		0.423	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143		36	228	0	0	0	1	0	36	228				
ATR	545	broad.mit.edu	37	3	142186836	142186836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142186836C>T	ENST00000350721.4	-	39	6748	c.6627G>A	c.(6625-6627)gaG>gaA	p.E2209E	ATR_ENST00000383101.3_Silent_p.E2145E|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2209					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAACAAACTTCTCTAAGGATT	0.353								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6625-6627)gaG>gaA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							121.0	128.0	126.0					3																	142186836		2202	4298	6500	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142186836C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6627G>A	3.37:g.142186836C>T						RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Silent_p.E2145E	p.E2209E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			39	6748	-			2209					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.6627G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	8.292	0.817999	0.16607	.	.	ENSG00000175054	ENST00000513291	T	0.13538	2.58	5.84	1.08	0.20341	.	0.150804	0.64402	D	0.000014	T	0.08133	0.0203	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18935	-1.0321	7	0.07030	T	0.85	-23.6448	9.963	0.41708	0.0:0.3146:0.0:0.6854	.	.	.	.	K	56	ENSP00000424355:E56K	ENSP00000424355:E56K	E	-	1	0	ATR	143669526	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.663000	0.25053	0.491000	0.27793	-0.229000	0.12294	GAA		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		29	375	0	0	0	1	0	29	375				
CHRNA4	1137	broad.mit.edu	37	20	61981304	61981304	+	Missense_Mutation	SNP	G	G	A	rs200200279	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981304G>A	ENST00000370263.4	-	5	1680	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	487					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGGATGCTCCGAGACCGGCAC	0.701													G|||	2	0.000399361	0.0	0.0	5008	,	,		12290	0.001		0.0	False		,,,				2504	0.001					ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1459-1461)Cgg>Tgg		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						8.0	10.0	9.0					20																	61981304		2165	4272	6437	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981304G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1459C>T	20.37:g.61981304G>A	ENSP00000359285:p.Arg487Trp					CHRNA4_ENST00000463705.1_5'UTR	p.R487W	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1680	-	all_cancers(38;1.71e-10)		487					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1459C>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.284091	0.40394	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.79454	-1.27	4.86	3.83	0.44106	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.196040	0.01472	N	0.016309	T	0.74114	0.3674	L	0.42744	1.35	0.27187	N	0.960529	B;B	0.30973	0.141;0.302	B;B	0.25759	0.042;0.063	T	0.62407	-0.6861	10	0.59425	D	0.04	.	11.7432	0.51804	0.0:0.0:0.7233:0.2767	.	416;487	Q4VAQ5;P43681	.;ACHA4_HUMAN	W	393;487;416	ENSP00000359285:R487W	ENSP00000359280:R393W	R	-	1	2	CHRNA4	61451748	0.004000	0.15560	0.718000	0.30602	0.829000	0.46940	1.025000	0.30090	2.246000	0.74042	0.591000	0.81541	CGG		0.701	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			13	48	0	0	0	1	0	13	48				
RP1	6101	broad.mit.edu	37	8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55537454C>T	ENST00000220676.1	+	4	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	338					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1012-1014)Cga>Tga		retinitis pigmentosa 1 (autosomal dominant)							68.0	67.0	67.0					8																	55537454		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537454C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1012C>T	8.37:g.55537454C>T	ENSP00000220676:p.Arg338*						p.R338*	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1160	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	338						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.1012C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	37	6.509009	0.97624	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.08	4.19	0.49359	.	0.148426	0.31577	N	0.007406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8105	0.69992	0.1453:0.8547:0.0:0.0	.	.	.	.	X	338	.	ENSP00000220676:R338X	R	+	1	2	RP1	55700007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.954000	0.63631	1.111000	0.41721	0.655000	0.94253	CGA		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		40	179	0	0	0	1	0	40	179				
MYH11	4629	broad.mit.edu	37	16	15844149	15844149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15844149G>A	ENST00000300036.5	-	16	2013	c.1904C>T	c.(1903-1905)aCg>aTg	p.T635M	MYH11_ENST00000396324.3_Missense_Mutation_p.T642M|MYH11_ENST00000452625.2_Missense_Mutation_p.T642M|MYH11_ENST00000576790.2_Missense_Mutation_p.T635M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	635	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T635M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGAGCTCTCCGTCATCTTGGC	0.627			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		1	Substitution - Missense(1)	p.T635M(1)	large_intestine(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(1903-1905)aCg>aTg		myosin, heavy chain 11, smooth muscle							93.0	69.0	77.0					16																	15844149		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15844149G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1904C>T	16.37:g.15844149G>A	ENSP00000300036:p.Thr635Met					MYH11_ENST00000300036.5_Missense_Mutation_p.T635M|MYH11_ENST00000452625.2_Missense_Mutation_p.T642M|MYH11_ENST00000396324.3_Missense_Mutation_p.T642M|MYH11_ENST00000576790.1_Missense_Mutation_p.T635M	p.T635M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			16	2010	-			635			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1904C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993385	0.74703	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.123826	0.53938	D	0.000050	D	0.87313	0.6146	L	0.47190	1.495	0.80722	D	1	D;P;P;P;P;P	0.54397	0.966;0.619;0.619;0.619;0.904;0.619	P;P;P;P;P;P	0.49799	0.622;0.5;0.5;0.5;0.5;0.5	D	0.88077	0.2804	10	0.56958	D	0.05	.	15.4747	0.75468	0.0:0.1387:0.8613:0.0	.	642;635;635;642;635;642	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	635;635;642;642;642	ENSP00000300036:T635M;ENSP00000345136:T635M;ENSP00000379616:T642M;ENSP00000407821:T642M	ENSP00000300036:T635M	T	-	2	0	MYH11	15751650	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.660000	0.74417	2.571000	0.86741	0.561000	0.74099	ACG		0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		23	110	0	0	0	1	0	23	110				
FAT1	2195	broad.mit.edu	37	4	187540695	187540695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540695C>A	ENST00000441802.2	-	10	7254	c.7045G>T	c.(7045-7047)Gat>Tat	p.D2349Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2349	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTCGTAATCCAGGGTTCTG	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7045-7047)Gat>Tat		FAT atypical cadherin 1							146.0	149.0	148.0					4																	187540695		2126	4237	6363	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540695C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7045G>T	4.37:g.187540695C>A	ENSP00000406229:p.Asp2349Tyr	HNSCC(5;0.00058)					p.D2349Y	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7254	-			2349			Cadherin 21.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7045G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803103	0.50315	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04275	3.66	5.45	5.45	0.79879	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64909	-0.6296	10	0.87932	D	0	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	2349	Q14517	FAT1_HUMAN	Y	2349;2351	ENSP00000406229:D2349Y	ENSP00000260147:D2351Y	D	-	1	0	FAT1	187777689	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	GAT		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		47	589	1	0	8.72198e-27	1	1.00714e-26	47	589				
CCDC57	284001	broad.mit.edu	37	17	80159683	80159683	+	Silent	SNP	C	C	T	rs376303728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159683C>T	ENST00000389641.4	-	2	174	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CCDC57_ENST00000392347.1_Silent_p.A46A|CCDC57_ENST00000392343.3_Silent_p.A46A			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	46										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTTTCCCCTGCGCCTCCTCCA	0.667																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(136-138)gcG>gcA		coiled-coil domain containing 57		C		0,4280		0,0,2140	41.0	48.0	46.0		138	-9.9	0.1	17		46	1,8489		0,1,4244	no	coding-synonymous	CCDC57	NM_198082.2		0,1,6384	TT,TC,CC		0.0118,0.0,0.0078		46/916	80159683	1,12769	2140	4245	6385	SO:0001819	synonymous_variant	284001							g.chr17:80159683C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.138G>A	17.37:g.80159683C>T						CCDC57_ENST00000389641.4_Silent_p.A46A|CCDC57_ENST00000392343.3_Silent_p.A46A	p.A46A	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		2	174	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		46					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	37	c.138G>A																																																																																					0.667	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		88	337	0	0	0	1	0	88	337				
LEMD1	93273	broad.mit.edu	37	1	205350901	205350901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205350901A>G	ENST00000367153.4	-	6	533	c.431T>C	c.(430-432)aTc>aCc	p.I144T	LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1-AS1_ENST00000447832.1_RNA	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	144						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CCAGCTCTCGATAGTCTGGTC	0.478																																						ENST00000367153.4																			0				breast(1)|lung(2)	3						c.(430-432)aTc>aCc		LEM domain containing 1							328.0	280.0	296.0					1																	205350901		2203	4300	6503	SO:0001583	missense	93273					integral to membrane|nuclear envelope		g.chr1:205350901A>G		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.431T>C	1.37:g.205350901A>G	ENSP00000356121:p.Ile144Thr					LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P|LEMD1-AS1_ENST00000447832.1_RNA	p.I144T	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)		6	533	-	Breast(84;0.247)		144					Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	37	c.431T>C	CCDS55679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.321|8.321	0.824374|0.824374	0.16678|0.16678	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367152;ENST00000367153;ENST00000367151|ENST00000367154;ENST00000391936;ENST00000367149	T;T;T|T;T;T	0.46819|0.55930	0.86;0.89;0.86|0.86;0.86;0.49	4.52|4.52	-9.04|-9.04	0.00734|0.00734	.|.	5.603240|.	0.00397|.	N|.	0.000042|.	T|T	0.32285|0.32285	0.0824|0.0824	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.06786|0.02656	0.001;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.0|0.0	T|T	0.34229|0.34229	-0.9837|-0.9837	9|8	0.59425|0.87932	D|D	0.04|0	-43.6463|-43.6463	4.6566|4.6566	0.12620|0.12620	0.5749:0.1058:0.2172:0.1021|0.5749:0.1058:0.2172:0.1021	.|.	103;144|97	Q68G75-3;Q68G75|Q68G75-5	.;LEMD1_HUMAN|.	T|P	103;144;103|97;97;56	ENSP00000356120:I103T;ENSP00000356121:I144T;ENSP00000356119:I103T|ENSP00000356122:S97P;ENSP00000375801:S97P;ENSP00000356117:S56P	ENSP00000356119:I103T|ENSP00000356117:S56P	I|S	-|-	2|1	0|0	LEMD1|LEMD1	203617524|203617524	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.482000|-1.482000	0.02320|0.02320	-2.209000|-2.209000	0.00739|0.00739	-0.934000|-0.934000	0.02701|0.02701	ATC|TCG		0.478	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552		86	956	0	0	0	1	0	86	956				
DHH	50846	broad.mit.edu	37	12	49485151	49485151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49485151C>T	ENST00000266991.2	-	2	631	c.325G>A	c.(325-327)Gct>Act	p.A109T	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	109					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						ATGGCCAAAGCGTTCACCCGC	0.587																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(325-327)Gct>Act		desert hedgehog							86.0	67.0	73.0					12																	49485151		2203	4300	6503	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49485151C>T	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.325G>A	12.37:g.49485151C>T	ENSP00000266991:p.Ala109Thr					RP11-386G11.8_ENST00000553174.1_RNA	p.A109T	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			2	631	-			109					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.325G>A	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980759	0.34942	.	.	ENSG00000139549	ENST00000266991	D	0.99418	-5.87	5.12	5.12	0.69794	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.173927	0.50627	D	0.000109	D	0.96027	0.8706	N	0.00873	-1.125	0.46954	D	0.99926	D	0.67145	0.996	P	0.47705	0.555	D	0.95758	0.8798	10	0.08381	T	0.77	0.4377	17.7162	0.88337	0.0:1.0:0.0:0.0	.	109	O43323	DHH_HUMAN	T	109	ENSP00000266991:A109T	ENSP00000266991:A109T	A	-	1	0	DHH	47771418	0.993000	0.37304	0.998000	0.56505	0.593000	0.36681	1.178000	0.31981	2.564000	0.86499	0.650000	0.86243	GCT		0.587	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		38	160	0	0	0	1	0	38	160				
CCT5	22948	broad.mit.edu	37	5	10258614	10258614	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10258614C>T	ENST00000280326.4	+	6	1260	c.840C>T	c.(838-840)taC>taT	p.Y280Y	CCT5_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515390.1_Silent_p.Y225Y|CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000503026.1_Silent_p.Y259Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	280					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTCAGAAATACGAAAAGGAGA	0.383																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(838-840)taC>taT		chaperonin containing TCP1, subunit 5 (epsilon)							89.0	85.0	86.0					5																	10258614		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10258614C>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.840C>T	5.37:g.10258614C>T						CCT5_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000515390.1_Silent_p.Y225Y|CCT5_ENST00000503026.1_Silent_p.Y259Y	p.Y280Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			6	1260	+			280					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.840C>T	CCDS3877.1																																																																																				0.383	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			62	352	0	0	0	1	0	62	352				
FBXL17	64839	broad.mit.edu	37	5	107216798	107216798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107216798G>A	ENST00000542267.1	-	8	2311	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	FBXL17_ENST00000359660.5_Silent_p.A237A|FBXL17_ENST00000496714.1_Silent_p.A237A	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	635										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAATCAGGGTGGCTCCTTGGT	0.453																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1903-1905)gcC>gcT		F-box and leucine-rich repeat protein 17							203.0	180.0	188.0					5																	107216798		2202	4300	6502	SO:0001819	synonymous_variant	64839							g.chr5:107216798G>A	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1905C>T	5.37:g.107216798G>A						FBXL17_ENST00000496714.1_Silent_p.A237A|FBXL17_ENST00000359660.5_Silent_p.A237A	p.A635A	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2311	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	635					A1A4E3	Silent	SNP	ENST00000542267.1	37	c.1905C>T	CCDS54886.1																																																																																				0.453	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				52	590	0	0	0	1	0	52	590				
PDE6B	5158	broad.mit.edu	37	4	649781	649781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:649781G>A	ENST00000496514.1	+	7	1066	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	PDE6B_ENST00000255622.6_Missense_Mutation_p.A349T|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	349	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AAGCTACGTGGCAGAAAGCGG	0.647																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1045-1047)Gca>Aca		phosphodiesterase 6B, cGMP-specific, rod, beta							96.0	82.0	87.0					4																	649781		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:649781G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1045G>A	4.37:g.649781G>A	ENSP00000420295:p.Ala349Thr					PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T|PDE6B_ENST00000496514.1_Missense_Mutation_p.A349T	p.A349T	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			7	1088	+			349			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1045G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098517	0.94197	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000487902;ENST00000429163	T;T;T;T	0.76186	-0.47;-0.47;-1.0;-0.47	4.94	4.94	0.65067	GAF (2);	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	M	0.92555	3.32	0.80722	D	1	P;P	0.50369	0.934;0.919	P;P	0.59643	0.861;0.783	D	0.90962	0.4813	10	0.87932	D	0	.	15.6552	0.77129	0.0:0.0:1.0:0.0	.	349;349	P35913;P35913-2	PDE6B_HUMAN;.	T	349;349;70;70	ENSP00000255622:A349T;ENSP00000420295:A349T;ENSP00000418256:A70T;ENSP00000406334:A70T	ENSP00000255622:A349T	A	+	1	0	PDE6B	639781	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.409000	0.97331	2.275000	0.75901	0.561000	0.74099	GCA		0.647	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		52	243	0	0	0	1	0	52	243				
TLE3	7090	broad.mit.edu	37	15	70353110	70353110	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70353110C>T	ENST00000558939.1	-	9	1972				TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000560589.1_Intron|TLE3_ENST00000442299.2_Splice_Site_p.E193E|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Intron	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3						Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGaactcctctctgccctgc	0.592																																						ENST00000442299.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e8-1		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							11.0	11.0	11.0					15																	70353110		876	1986	2862	SO:0001627	intron_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70353110C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.595-122G>A	15.37:g.70353110C>T						TLE3_ENST00000317509.8_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000558939.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000539550.1_Intron	p.E193_splice			Q04726	TLE3_HUMAN			8	1697	-			193			Gly/Pro-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Splice_Site	SNP	ENST00000558939.1	37	c.577_splice	CCDS45293.1																																																																																				0.592	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		7	37	0	0	0	1	0	7	37				
MX2	4600	broad.mit.edu	37	21	42748845	42748845	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42748845C>A	ENST00000330714.3	+	2	196	c.12C>A	c.(10-12)gcC>gcA	p.A4A	MX2_ENST00000543692.1_Silent_p.A4A	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	4					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGTCTAAGGCCCACAAGCCTT	0.507																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(10-12)gcC>gcA		myxovirus (influenza virus) resistance 2 (mouse)							70.0	72.0	71.0					21																	42748845		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42748845C>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.12C>A	21.37:g.42748845C>A						MX2_ENST00000543692.1_Silent_p.A4A	p.A4A	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			2	196	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	4					B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.12C>A	CCDS13672.1																																																																																				0.507	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		87	378	1	0	1.86864e-30	1	2.19243e-30	87	378				
ZNF578	147660	broad.mit.edu	37	19	53005079	53005079	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53005079G>T	ENST00000421239.2	+	4	225		c.e4-1			NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCACATACAGGATTGATTTC	0.438																																						ENST00000421239.2																			0											c.e4-1		zinc finger protein 578							151.0	158.0	156.0					19																	53005079		2203	4300	6503	SO:0001630	splice_region_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53005079G>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.-19-1G>T	19.37:g.53005079G>T								NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	4	225	+								B4DR51|I3L1Y6	Splice_Site	SNP	ENST00000421239.2	37		CCDS54310.1																																																																																				0.438	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	Intron	76	316	1	0	1.43675e-24	1	1.64411e-24	76	316				
XRN2	22803	broad.mit.edu	37	20	21314400	21314400	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21314400G>T	ENST00000377191.3	+	11	1087	c.992G>T	c.(991-993)aGc>aTc	p.S331I	XRN2_ENST00000430571.2_Missense_Mutation_p.S255I|XRN2_ENST00000539513.1_Missense_Mutation_p.S277I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	331					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTTGAGAGGAGCATTGATGAC	0.418																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(991-993)aGc>aTc		5'-3' exoribonuclease 2							297.0	273.0	281.0					20																	21314400		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21314400G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.992G>T	20.37:g.21314400G>T	ENSP00000366396:p.Ser331Ile					XRN2_ENST00000539513.1_Missense_Mutation_p.S277I|XRN2_ENST00000430571.2_Missense_Mutation_p.S255I	p.S331I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			11	1087	+			331					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.992G>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009093	0.54361	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.25749	1.78;1.78;1.78	5.83	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.05199	-0.095	0.80722	D	1	B	0.25441	0.126	B	0.18561	0.022	T	0.12708	-1.0537	10	0.02654	T	1	-15.4121	11.5221	0.50558	0.0655:0.0:0.8104:0.1241	.	331	Q9H0D6	XRN2_HUMAN	I	331;255;277	ENSP00000366396:S331I;ENSP00000413548:S255I;ENSP00000441113:S277I	ENSP00000366396:S331I	S	+	2	0	XRN2	21262400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.982000	0.88131	1.456000	0.47831	0.655000	0.94253	AGC		0.418	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		260	1144	1	0	3.22634e-79	1	4.12331e-79	260	1144				
CHD7	55636	broad.mit.edu	37	8	61748784	61748784	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61748784A>G	ENST00000423902.2	+	16	4410	c.3931A>G	c.(3931-3933)Atc>Gtc	p.I1311V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1311	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGGTGCTTATCTTTTCCCA	0.473																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3931-3933)Atc>Gtc		chromodomain helicase DNA binding protein 7							69.0	68.0	68.0					8																	61748784		2023	4194	6217	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61748784A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3931A>G	8.37:g.61748784A>G	ENSP00000392028:p.Ile1311Val					CHD7_ENST00000524602.1_Intron	p.I1311V	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		16	4410	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1311			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3931A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699147	0.48307	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75154	-0.91	5.8	5.8	0.92144	Helicase, C-terminal (1);	0.066717	0.64402	D	0.000007	T	0.66867	0.2833	L	0.35593	1.075	0.58432	D	0.999999	B	0.32425	0.371	B	0.32393	0.145	T	0.68372	-0.5426	10	0.59425	D	0.04	-16.4397	16.1549	0.81657	1.0:0.0:0.0:0.0	.	1311	Q9P2D1	CHD7_HUMAN	V	1311	ENSP00000392028:I1311V	ENSP00000307304:I1311V	I	+	1	0	CHD7	61911338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.625000	0.54238	2.209000	0.71365	0.533000	0.62120	ATC		0.473	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		24	122	0	0	0	1	0	24	122				
TCN1	6947	broad.mit.edu	37	11	59631526	59631526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59631526G>T	ENST00000257264.3	-	2	217	c.113C>A	c.(112-114)cCt>cAt	p.P38H	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	38	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCAACAGAGGTTTTAGGCG	0.428																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(112-114)cCt>cAt		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						207.0	200.0	202.0					11																	59631526		2201	4294	6495	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59631526G>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.113C>A	11.37:g.59631526G>T	ENSP00000257264:p.Pro38His					TCN1_ENST00000532419.1_5'UTR	p.P38H	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			2	217	-		all_epithelial(135;0.198)	38					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.113C>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899915	0.52227	.	.	ENSG00000134827	ENST00000257264	T	0.34667	1.35	4.54	3.61	0.41365	.	0.602001	0.15518	N	0.258174	T	0.32164	0.0820	M	0.63428	1.95	0.22710	N	0.998822	P	0.41159	0.74	B	0.37346	0.247	T	0.11012	-1.0605	10	0.17832	T	0.49	-2.6499	10.4549	0.44544	0.0:0.0:0.8044:0.1956	.	38	P20061	TCO1_HUMAN	H	38	ENSP00000257264:P38H	ENSP00000257264:P38H	P	-	2	0	TCN1	59388102	0.862000	0.29867	0.189000	0.23252	0.005000	0.04900	0.571000	0.23669	1.193000	0.43086	0.655000	0.94253	CCT		0.428	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		56	671	1	0	2.40265e-35	1	2.8676e-35	56	671				
CYP2A13	1553	broad.mit.edu	37	19	41601664	41601664	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41601664G>T	ENST00000330436.3	+	9	1303		c.e9-1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTCCTCCTCAGGAAAGCGGTA	0.577																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.e9-1		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						109.0	103.0	105.0					19																	41601664		2203	4300	6503	SO:0001630	splice_region_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41601664G>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1304-1G>T	19.37:g.41601664G>T								NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			9	1303	+								Q53YR8|Q6R569|Q6R570|Q9H2X2	Splice_Site	SNP	ENST00000330436.3	37		CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	19.48	3.835690	0.71373	.	.	ENSG00000197838	ENST00000330436	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7296	0.62779	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2A13	46293504	1.000000	0.71417	0.979000	0.43373	0.915000	0.54546	9.187000	0.94912	2.229000	0.72834	0.574000	0.79327	.		0.577	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	Intron	87	435	1	0	1.92282e-43	1	2.34754e-43	87	435				
TMPPE	643853	broad.mit.edu	37	3	33134406	33134406	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33134406C>A	ENST00000342462.4	-	2	1472	c.1282G>T	c.(1282-1284)Ggc>Tgc	p.G428C	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G291C	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	428						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TAGGCTGTGCCTGGGCTGACA	0.587																																						ENST00000342462.4																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(1282-1284)Ggc>Tgc		transmembrane protein with metallophosphoesterase domain							76.0	70.0	72.0					3																	33134406		2203	4300	6503	SO:0001583	missense	643853					integral to membrane	metal ion binding	g.chr3:33134406C>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1282G>T	3.37:g.33134406C>A	ENSP00000343398:p.Gly428Cys					GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G291C	p.G428C	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN			2	1472	-			428					B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	c.1282G>T	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053814	0.75960	.	.	ENSG00000188167	ENST00000416695;ENST00000342462	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	D	0.88310	0.6402	H	0.96633	3.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91371	0.5119	9	0.87932	D	0	-17.1482	17.6706	0.88216	0.0:1.0:0.0:0.0	.	428	Q6ZT21	TMPPE_HUMAN	C	291;428	.	ENSP00000343398:G428C	G	-	1	0	TMPPE	33109410	1.000000	0.71417	0.935000	0.37517	0.964000	0.63967	5.760000	0.68793	2.941000	0.99782	0.655000	0.94253	GGC		0.587	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		5	188	1	0	1.23904e-05	1	1.26975e-05	5	188				
KLHL9	55958	broad.mit.edu	37	9	21333707	21333707	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21333707T>G	ENST00000359039.4	-	1	1672	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S	KLHL9_ENST00000537938.1_Silent_p.S316S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	384					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTTCATTTAATGATGCAACCT	0.413																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(1150-1152)tcA>tcC		kelch-like family member 9							82.0	78.0	79.0					9																	21333707		2203	4300	6503	SO:0001819	synonymous_variant	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333707T>G	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1152A>C	9.37:g.21333707T>G						KLHL9_ENST00000537938.1_Silent_p.S316S	p.S384S			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1672	-			384					Q8TCQ2	Silent	SNP	ENST00000359039.4	37	c.1152A>C	CCDS6503.1																																																																																				0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		70	332	0	0	0	1	0	70	332				
PER2	8864	broad.mit.edu	37	2	239161789	239161789	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161789G>T	ENST00000254657.3	-	19	3154	c.2875C>A	c.(2875-2877)Cca>Aca	p.P959T	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	959	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAAGCACATGGCTGTCTGGGG	0.667																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2875-2877)Cca>Aca		period circadian clock 2							48.0	48.0	48.0					2																	239161789		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161789G>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2875C>A	2.37:g.239161789G>T	ENSP00000254657:p.Pro959Thr					PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	p.P959T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3154	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	959			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2875C>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220607	0.06061	.	.	ENSG00000132326	ENST00000254657	T	0.11821	2.74	4.24	2.43	0.29744	.	3.118280	0.01951	U	0.042658	T	0.20251	0.0487	M	0.75264	2.295	0.09310	N	0.999999	B;B	0.30068	0.267;0.164	B;B	0.28139	0.086;0.06	T	0.26292	-1.0107	10	0.38643	T	0.18	-9.1142	6.8517	0.24018	0.3024:0.0:0.6976:0.0	.	959;959	B4DH14;O15055	.;PER2_HUMAN	T	959	ENSP00000254657:P959T	ENSP00000254657:P959T	P	-	1	0	PER2	238826528	0.035000	0.19736	0.002000	0.10522	0.034000	0.12701	1.910000	0.39927	0.514000	0.28300	-0.126000	0.14955	CCA		0.667	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		123	365	1	0	6.83383e-50	1	8.46023e-50	123	365				
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78046696G>T	ENST00000370801.3	-	9	2442	c.1967C>A	c.(1966-1968)aCt>aAt	p.T656N	ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1966-1968)aCt>aAt		zinc finger, ZZ-type containing 3							171.0	165.0	167.0					1																	78046696		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78046696G>T	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1967C>A	1.37:g.78046696G>T	ENSP00000359837:p.Thr656Asn					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N	p.T656N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			9	2442	-			656			HTH myb-type.		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1967C>A	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250996	0.80135	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.62498	0.02;0.02	5.77	5.77	0.91146	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.106561	0.64402	D	0.000006	T	0.80864	0.4705	M	0.93106	3.38	0.80722	D	1	B;D;P	0.71674	0.447;0.998;0.934	B;D;P	0.69479	0.147;0.964;0.603	D	0.84252	0.0478	10	0.72032	D	0.01	.	15.4799	0.75517	0.0:0.1381:0.8619:0.0	.	162;656;655	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	656;162	ENSP00000359837:T656N;ENSP00000359834:T162N	ENSP00000359834:T162N	T	-	2	0	ZZZ3	77819284	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.208000	0.65203	2.902000	0.99343	0.650000	0.86243	ACT		0.373	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		42	534	1	0	9.84934e-19	1	1.0948e-18	42	534				
ANO2	57101	broad.mit.edu	37	12	5841705	5841705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5841705G>A	ENST00000356134.5	-	16	1600	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.T509M|ANO2_ENST00000546188.1_Missense_Mutation_p.T510M	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	514					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACACTCCGTCGTGTTTGTTTC	0.458																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1525-1527)aCg>aTg		anoctamin 2							114.0	113.0	113.0					12																	5841705		2052	4196	6248	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5841705G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1529C>T	12.37:g.5841705G>A	ENSP00000348453:p.Thr510Met					ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Missense_Mutation_p.T510M|ANO2_ENST00000546188.1_Missense_Mutation_p.T510M	p.T509M			Q9NQ90	ANO2_HUMAN			15	1597	-			514					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1526C>T		.	.	.	.	.	.	.	.	.	.	G	6.554	0.470520	0.12461	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.62	-3.57	0.04612	.	1.022950	0.07770	N	0.951566	T	0.35653	0.0939	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.13415	-1.0510	10	0.30854	T	0.27	.	1.7965	0.03062	0.3634:0.1684:0.3517:0.1165	.	509	Q9NQ90-3	.	M	509;510;510;514;69	ENSP00000314048:T509M;ENSP00000348453:T510M;ENSP00000440981:T510M;ENSP00000443813:T69M	ENSP00000314048:T509M	T	-	2	0	ANO2	5711966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.636000	0.05465	-0.560000	0.06102	-0.119000	0.15052	ACG		0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		34	187	0	0	0	1	0	34	187				
GIMAP1	170575	broad.mit.edu	37	7	150417696	150417696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417696G>A	ENST00000307194.5	+	3	744	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	202	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCCAGGTGGAGCAGCTGCT	0.682																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(604-606)Gag>Aag		GTPase, IMAP family member 1							23.0	29.0	27.0					7																	150417696		2202	4300	6502	SO:0001583	missense	170575							g.chr7:150417696G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.604G>A	7.37:g.150417696G>A	ENSP00000302833:p.Glu202Lys						p.E202K	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	744	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.604G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148281	0.01714	.	.	ENSG00000213203	ENST00000307194	T	0.05081	3.5	4.81	-9.61	0.00550	AIG1 (1);	1.483890	0.04627	U	0.402865	T	0.01730	0.0055	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42120	-0.9470	10	0.02654	T	1	.	9.6635	0.39969	0.3531:0.5014:0.1455:0.0	.	202	Q8WWP7	GIMA1_HUMAN	K	202	ENSP00000302833:E202K	ENSP00000302833:E202K	E	+	1	0	GIMAP1	150048629	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.913000	0.00697	-2.035000	0.00923	-0.172000	0.13284	GAG		0.682	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		27	149	0	0	0	1	0	27	149				
OR4A15	81328	broad.mit.edu	37	11	55135508	55135508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135508A>C	ENST00000314706.3	+	1	149	c.149A>C	c.(148-150)gAg>gCg	p.E50A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGAACCCTGAGGGGCAAAAG	0.443																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(148-150)gAg>gCg		olfactory receptor, family 4, subfamily A, member 15							69.0	65.0	67.0					11																	55135508		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135508A>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.149A>C	11.37:g.55135508A>C	ENSP00000325065:p.Glu50Ala						p.E50A	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	149	+			50					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.149A>C	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	6.125	0.391311	0.11581	.	.	ENSG00000181958	ENST00000314706	T	0.00438	7.42	3.48	0.908	0.19326	.	0.125811	0.35495	N	0.003167	T	0.00384	0.0012	M	0.70842	2.15	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.43343	-0.9397	10	0.36615	T	0.2	.	7.5998	0.28069	0.5696:0.4304:0.0:0.0	.	50	Q8NGL6	O4A15_HUMAN	A	50	ENSP00000325065:E50A	ENSP00000325065:E50A	E	+	2	0	OR4A15	54892084	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.029000	0.13666	-0.017000	0.14103	-0.677000	0.03784	GAG		0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		53	268	0	0	0	1	0	53	268				
TRANK1	9881	broad.mit.edu	37	3	36872371	36872371	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36872371C>A	ENST00000429976.2	-	21	8818	c.8571G>T	c.(8569-8571)tgG>tgT	p.W2857C	TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C|TRANK1_ENST00000301807.6_Missense_Mutation_p.W2307C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2857							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TACCGCCAGCCCAGGCCTTCC	0.582																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(8569-8571)tgG>tgT		tetratricopeptide repeat and ankyrin repeat containing 1							47.0	47.0	47.0					3																	36872371		1957	4158	6115	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872371C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8571G>T	3.37:g.36872371C>A	ENSP00000416168:p.Trp2857Cys					TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C|TRANK1_ENST00000301807.6_Missense_Mutation_p.W2307C	p.W2857C			O15050	TRNK1_HUMAN			21	8818	-			2857					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.8571G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340832	0.60963	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.62498	0.02;0.43;0.02	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000038	T	0.72463	0.3463	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75425	-0.3322	10	0.87932	D	0	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	2857	O15050	TRNK1_HUMAN	C	2307;2857;2307	ENSP00000416826:W2307C;ENSP00000416168:W2857C;ENSP00000301807:W2307C	ENSP00000301807:W2307C	W	-	3	0	TRANK1	36847375	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.359000	0.66074	2.607000	0.88179	0.561000	0.74099	TGG		0.582	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		56	207	1	0	8.44121e-28	1	9.79253e-28	56	207				
ZBTB46	140685	broad.mit.edu	37	20	62407098	62407098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62407098G>A	ENST00000245663.4	-	3	1305	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZBTB46_ENST00000395104.1_Silent_p.A385A|ZBTB46_ENST00000302995.2_Silent_p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	385					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A385A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCAGCACGTCGGCCTTCAGCG	0.677											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245663.4																			1	Substitution - coding silent(1)	p.A385A(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1153-1155)gcC>gcT		zinc finger and BTB domain containing 46							52.0	55.0	54.0					20																	62407098		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62407098G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1155C>T	20.37:g.62407098G>A			OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1061	ZBTB46_ENST00000302995.2_Silent_p.A385A|ZBTB46_ENST00000395104.1_Silent_p.A385A	p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			3	1305	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		385					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.1155C>T	CCDS13538.1																																																																																				0.677	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		99	398	0	0	0	1	0	99	398				
CYP20A1	57404	broad.mit.edu	37	2	204131313	204131313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204131313G>A	ENST00000356079.4	+	5	632	c.509G>A	c.(508-510)gGt>gAt	p.G170D	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.G170D	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	170						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CATATGCTTGGTTTTGCTATG	0.433																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(508-510)gGt>gAt		cytochrome P450, family 20, subfamily A, polypeptide 1							139.0	131.0	134.0					2																	204131313		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204131313G>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.509G>A	2.37:g.204131313G>A	ENSP00000348380:p.Gly170Asp					CYP20A1_ENST00000429815.2_Missense_Mutation_p.G170D|CYP20A1_ENST00000461371.1_3'UTR	p.G170D	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			5	632	+			170					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.509G>A	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504620	0.85176	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.67345	-0.26;-0.26;-0.26	5.19	5.19	0.71726	.	0.168452	0.51477	D	0.000082	T	0.75474	0.3854	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.62365	0.991;0.732	P;B	0.61070	0.883;0.377	T	0.75485	-0.3301	10	0.45353	T	0.12	-13.052	18.708	0.91645	0.0:0.0:1.0:0.0	.	170;170	E9PHG5;Q6UW02	.;CP20A_HUMAN	D	170	ENSP00000348380:G170D;ENSP00000407860:G170D;ENSP00000411341:G170D	ENSP00000348380:G170D	G	+	2	0	CYP20A1	203839558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.123000	0.89586	2.383000	0.81215	0.650000	0.86243	GGT		0.433	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		190	527	0	0	0	1	0	190	527				
COL4A4	1286	broad.mit.edu	37	2	228004944	228004944	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228004944T>G	ENST00000396625.3	-	4	332	c.125A>C	c.(124-126)aAa>aCa	p.K42T	COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	42	7S domain.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAATGTATTTCTTTCCACT	0.408																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(124-126)aAa>aCa		collagen, type IV, alpha 4							100.0	97.0	98.0					2																	228004944		1912	4127	6039	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:228004944T>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.125A>C	2.37:g.228004944T>G	ENSP00000379866:p.Lys42Thr					COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	p.K42T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	4	332	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	42			7S domain.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.125A>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079944	0.76528	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.91124	-2.79;-2.76	5.91	5.91	0.95273	.	.	.	.	.	D	0.90844	0.7124	N	0.19112	0.55	0.32287	N	0.566803	D	0.89917	1.0	D	0.85130	0.997	D	0.90618	0.4557	9	0.37606	T	0.19	.	12.7401	0.57246	0.0:0.0:0.0:1.0	.	42	P53420	CO4A4_HUMAN	T	42	ENSP00000379866:K42T;ENSP00000328553:K42T	ENSP00000328553:K42T	K	-	2	0	COL4A4	227713188	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	2.456000	0.44997	2.254000	0.74563	0.533000	0.62120	AAA		0.408	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		21	237	0	0	0	1	0	21	237				
MAP3K9	4293	broad.mit.edu	37	14	71209278	71209278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71209278G>A	ENST00000554752.2	-	6	1356	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	453					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGTGCAGCCCGCGTCAGCTCC	0.627																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1357-1359)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 9							38.0	36.0	36.0					14																	71209278		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71209278G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1357C>T	14.37:g.71209278G>A	ENSP00000451612:p.Arg453Trp					MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W	p.R453W			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	6	1356	-			453					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1357C>T		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683396	0.68157	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	6.06	5.12	0.69794	Protein kinase-like domain (1);	0.115517	0.64402	D	0.000011	D	0.90417	0.7000	M	0.71871	2.18	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	D	0.90899	0.4767	10	0.87932	D	0	.	16.8654	0.86028	0.0:0.128:0.872:0.0	.	190;453;453;147	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	453;453;147;453;190;181	ENSP00000451612:R453W;ENSP00000451038:R147W;ENSP00000370649:R453W;ENSP00000451921:R190W	ENSP00000005198:R453W	R	-	1	2	MAP3K9	70279031	1.000000	0.71417	0.972000	0.41901	0.028000	0.11728	6.623000	0.74238	2.882000	0.98803	0.655000	0.94253	CGG		0.627	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			40	206	0	0	0	1	0	40	206				
GAS2	2620	broad.mit.edu	37	11	22777449	22777449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22777449C>T	ENST00000454584.2	+	7	978	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GAS2_ENST00000433790.1_Missense_Mutation_p.R225W|GAS2_ENST00000278187.3_Missense_Mutation_p.R225W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	225	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTGTGTGGAGCGGCTCTCCCA	0.398																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(673-675)Cgg>Tgg		growth arrest-specific 2							81.0	80.0	80.0					11																	22777449		2203	4299	6502	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22777449C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.673C>T	11.37:g.22777449C>T	ENSP00000401145:p.Arg225Trp					GAS2_ENST00000433790.1_Missense_Mutation_p.R225W|GAS2_ENST00000278187.3_Missense_Mutation_p.R225W	p.R225W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			7	978	+			225			GAR.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.673C>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073711	0.76415	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.51071	0.72;0.72;0.72	5.61	1.2	0.21068	Growth-arrest-specific protein 2 domain (5);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.70595	2.14	0.53688	D	0.999979	D	0.89917	1.0	D	0.75020	0.985	T	0.68401	-0.5418	10	0.87932	D	0	-13.4615	15.0604	0.71947	0.6008:0.3992:0.0:0.0	.	225	O43903	GAS2_HUMAN	W	225	ENSP00000401145:R225W;ENSP00000278187:R225W;ENSP00000396708:R225W	ENSP00000278187:R225W	R	+	1	2	GAS2	22734025	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	1.064000	0.30579	-0.059000	0.13154	0.655000	0.94253	CGG		0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		37	173	0	0	0	1	0	37	173				
NT5DC3	51559	broad.mit.edu	37	12	104187733	104187733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104187733C>A	ENST00000392876.3	-	7	836	c.796G>T	c.(796-798)Gca>Tca	p.A266S	NT5DC3_ENST00000465502.1_5'Flank	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	266			A -> E (in dbSNP:rs12184494).			cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GCTTCAATTGCTCTGTACATT	0.403																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(796-798)Gca>Tca		5'-nucleotidase domain containing 3							231.0	201.0	211.0					12																	104187733		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104187733C>A	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.796G>T	12.37:g.104187733C>A	ENSP00000376615:p.Ala266Ser						p.A266S	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			7	836	-			266		A -> E (in dbSNP:rs12184494).			Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.796G>T	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140542	0.37825	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.73	5.73	0.89815	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	L	0.59436	1.845	0.80722	D	1	P	0.39216	0.664	B	0.40329	0.326	T	0.04840	-1.0923	10	0.09590	T	0.72	-20.1698	19.8991	0.96978	0.0:1.0:0.0:0.0	.	266	Q86UY8	NT5D3_HUMAN	S	266	ENSP00000376615:A266S	ENSP00000376615:A266S	A	-	1	0	NT5DC3	102711863	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	4.632000	0.61311	2.706000	0.92434	0.557000	0.71058	GCA		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		13	513	1	0	2.23348e-06	1	2.30073e-06	13	513				
GNAQ	2776	broad.mit.edu	37	9	80412494	80412494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80412494G>A	ENST00000286548.4	-	4	769	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183			R -> Q (in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control). {ECO:0000269|PubMed:22307269, ECO:0000269|PubMed:23656586}.		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183*(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTGGGGACTCGAACTCTAAGC	0.468			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		1	Substitution - Nonsense(1)	p.R183*(1)	large_intestine(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(547-549)Cga>Tga		guanine nucleotide binding protein (G protein), q polypeptide							155.0	118.0	131.0					9																	80412494		2203	4300	6503	SO:0001587	stop_gained	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80412494G>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.547C>T	9.37:g.80412494G>A	ENSP00000286548:p.Arg183*					GNAQ_ENST00000397476.3_5'UTR	p.R183*	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			4	769	-			183					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	37	c.547C>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	G	38	6.792681	0.97841	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	183;154	.	ENSP00000286548:R183X	R	-	1	2	GNAQ	79602314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.582000	0.74049	2.778000	0.95560	0.655000	0.94253	CGA		0.468	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		85	166	0	0	0	1	0	85	166				
MYT1	4661	broad.mit.edu	37	20	62837056	62837056	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62837056G>T	ENST00000328439.1	+	6	664	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MYT1_ENST00000536311.1_Missense_Mutation_p.K100N|MYT1_ENST00000360149.4_Missense_Mutation_p.K100N	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGAGGTGAAGGACGCCTCTG	0.602																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(298-300)aaG>aaT		myelin transcription factor 1							81.0	71.0	74.0					20																	62837056		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62837056G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.300G>T	20.37:g.62837056G>T	ENSP00000327465:p.Lys100Asn					MYT1_ENST00000360149.4_Missense_Mutation_p.K100N|MYT1_ENST00000328439.1_Missense_Mutation_p.K100N	p.K100N			Q01538	MYT1_HUMAN			6	664	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		100					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.300G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153901	0.57259	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.50548	0.74;1.57;1.57	5.58	5.58	0.84498	.	0.252000	0.41194	D	0.000928	T	0.60051	0.2239	M	0.66939	2.045	0.24673	N	0.993402	D;D	0.59357	0.958;0.985	P;P	0.55508	0.558;0.777	T	0.58306	-0.7659	10	0.59425	D	0.04	-41.3035	13.5078	0.61493	0.0756:0.0:0.9244:0.0	.	100;100	Q01538;Q6P6D5	MYT1_HUMAN;.	N	100	ENSP00000353269:K100N;ENSP00000327465:K100N;ENSP00000442412:K100N	ENSP00000327465:K100N	K	+	3	2	MYT1	62307500	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.868000	0.48436	2.642000	0.89623	0.655000	0.94253	AAG		0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		25	214	1	0	7.87624e-14	1	8.52853e-14	25	214				
KLHL10	317719	broad.mit.edu	37	17	39994291	39994291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39994291G>A	ENST00000293303.4	+	1	260	c.107G>A	c.(106-108)gGc>gAc	p.G36D	RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000269534.8_5'Flank|NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	36					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGACTAGAGGGCAAGCTCTGC	0.522																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(106-108)gGc>gAc		kelch-like family member 10							146.0	147.0	146.0					17																	39994291		2080	4208	6288	SO:0001583	missense	317719					cytoplasm		g.chr17:39994291G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.107G>A	17.37:g.39994291G>A	ENSP00000293303:p.Gly36Asp					KLHL10_ENST00000485613.1_3'UTR	p.G36D	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			1	260	+		Breast(137;0.000162)	36					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.107G>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514210	0.64522	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	T;T;T	0.72167	-0.63;-0.63;-0.63	4.84	4.84	0.62591	BTB/POZ (1);BTB/POZ fold (2);	0.478194	0.23137	N	0.051501	T	0.78091	0.4229	L	0.49778	1.585	0.42499	D	0.992925	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.917	T	0.74321	-0.3703	10	0.26408	T	0.33	.	14.8509	0.70295	0.0:0.0:1.0:0.0	.	36;36	B4DXV2;Q6JEL2	.;KLH10_HUMAN	D	36	ENSP00000391983:G36D;ENSP00000293303:G36D;ENSP00000416221:G36D	ENSP00000293303:G36D	G	+	2	0	KLHL10	37247817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.787000	0.69013	2.542000	0.85734	0.650000	0.86243	GGC		0.522	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		107	416	0	0	0	1	0	107	416				
ENO1	2023	broad.mit.edu	37	1	8923343	8923343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8923343G>A	ENST00000234590.4	-	10	1246	c.1127C>T	c.(1126-1128)aCt>aTt	p.T376I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	376					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATCTTCAGTCTCCCCCGA	0.547											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1126-1128)aCt>aTt		enolase 1, (alpha)							134.0	121.0	126.0					1																	8923343		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8923343G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1127C>T	1.37:g.8923343G>A	ENSP00000234590:p.Thr376Ile		OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653		p.T376I	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	10	1246	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	376					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.1127C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020741	0.93462	.	.	ENSG00000074800	ENST00000234590	T	0.26067	1.76	5.46	5.46	0.80206	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	H	0.98901	4.365	0.58432	D	0.999994	P;D;D;P;D;D	0.89917	0.886;0.999;0.971;0.886;0.999;1.0	D;D;D;D;D;D	0.91635	0.964;0.998;0.964;0.94;0.996;0.999	D	0.83613	0.0135	10	0.87932	D	0	-37.9347	18.2966	0.90148	0.0:0.0:1.0:0.0	.	77;280;214;126;283;376	A4QMW8;E2DRY6;Q9BT62;Q96GV1;P06733-2;P06733	.;.;.;.;.;ENOA_HUMAN	I	376	ENSP00000234590:T376I	ENSP00000234590:T376I	T	-	2	0	ENO1	8845930	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	9.712000	0.98738	2.586000	0.87340	0.561000	0.74099	ACT		0.547	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		8	151	0	0	0	1	0	8	151				
ATCAY	85300	broad.mit.edu	37	19	3909544	3909544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3909544C>T	ENST00000450849.2	+	7	1175	c.708C>T	c.(706-708)aaC>aaT	p.N236N	ATCAY_ENST00000600960.1_Silent_p.N236N|ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000398448.3_Silent_p.N242N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	236	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TGTACCTGAACGGTGCCACGC	0.607																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(706-708)aaC>aaT		ataxia, cerebellar, Cayman type							50.0	55.0	53.0					19																	3909544		2132	4241	6373	SO:0001819	synonymous_variant	85300				transport		protein binding	g.chr19:3909544C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.708C>T	19.37:g.3909544C>T						ATCAY_ENST00000398448.3_Silent_p.N242N|ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000600960.1_Silent_p.N236N	p.N236N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	7	1175	+		Hepatocellular(1079;0.137)	236			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	c.708C>T	CCDS45923.1																																																																																				0.607	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			33	137	0	0	0	1	0	33	137				
STMN1	3925	broad.mit.edu	37	1	26230290	26230290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26230290C>A	ENST00000399728.1	-	3	391	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	STMN1_ENST00000465604.1_5'UTR|MIR3917_ENST00000580971.1_RNA|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	10	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCCAGTTCTTTCACCTGG	0.393																																						ENST00000399728.1																			0				breast(2)|large_intestine(2)|skin(2)	6						c.(28-30)Gaa>Taa		stathmin 1							40.0	43.0	42.0					1																	26230290		2202	4300	6502	SO:0001587	stop_gained	3925				cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding	g.chr1:26230290C>A	J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"""oncoprotein 18"""	151442	"""chromosome 1 open reading frame 215"", ""stathmin 1/oncoprotein 18"""	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.28G>T	1.37:g.26230290C>A	ENSP00000382633:p.Glu10*					STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*	p.E10*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)	3	391	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	10					A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Nonsense_Mutation	SNP	ENST00000399728.1	37	c.28G>T	CCDS269.1	.	.	.	.	.	.	.	.	.	.	C	41	9.112063	0.99069	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291;ENST00000446334	.	.	.	5.72	5.72	0.89469	.	0.104283	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000350531:E10X	E	-	1	0	STMN1	26102877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.717000	0.92951	0.655000	0.94253	GAA		0.393	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	NM_005563		28	274	1	0	2.12542e-12	1	2.28249e-12	28	274				
MYBPC1	4604	broad.mit.edu	37	12	102067280	102067280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102067280T>G	ENST00000550270.1	+	24	2668	c.2668T>G	c.(2668-2670)Tct>Gct	p.S890A	MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000549145.1_Missense_Mutation_p.S903A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	890	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATTCGCAACTCTGAGACTGA	0.383																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2707-2709)Tct>Gct		myosin binding protein C, slow type							143.0	153.0	150.0					12																	102067280		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067280T>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2668T>G	12.37:g.102067280T>G	ENSP00000449702:p.Ser890Ala					MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A	p.S903A			Q00872	MYPC1_HUMAN			25	2807	+			890			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2707T>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818772	0.50633	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144208	0.32287	N	0.006318	T	0.78761	0.4334	M	0.79123	2.44	0.38230	D	0.941003	B;B;B;B;B;B;B;B;B;B	0.24317	0.006;0.051;0.101;0.025;0.013;0.089;0.023;0.028;0.094;0.004	B;B;P;B;B;P;B;B;B;B	0.48598	0.102;0.361;0.583;0.261;0.159;0.583;0.247;0.428;0.302;0.111	T	0.81300	-0.0995	10	0.87932	D	0	.	9.6098	0.39657	0.2618:0.0:0.0:0.7382	.	853;860;890;872;859;846;872;890;897;897	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	846;890;890;890;859;858;897;903;872;872;853;860;897;773;890	ENSP00000448175:S846A;ENSP00000400908:S890A;ENSP00000388989:S890A;ENSP00000353822:S890A;ENSP00000376665:S859A;ENSP00000447362:S858A;ENSP00000354845:S897A;ENSP00000447660:S903A;ENSP00000447900:S872A;ENSP00000440034:S872A;ENSP00000446128:S853A;ENSP00000442847:S860A;ENSP00000354849:S897A;ENSP00000447116:S773A;ENSP00000449702:S890A	ENSP00000353822:S890A	S	+	1	0	MYBPC1	100591411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.124000	0.64709	2.189000	0.69895	0.454000	0.30748	TCT		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			164	745	0	0	0	1	0	164	745				
HECTD1	25831	broad.mit.edu	37	14	31597990	31597990	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597990G>T	ENST00000399332.1	-	25	5075	c.4587C>A	c.(4585-4587)agC>agA	p.S1529R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1529	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGCACTAGAGCTCATAGGGG	0.453																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(4585-4587)agC>agA		HECT domain containing E3 ubiquitin protein ligase 1							69.0	63.0	65.0					14																	31597990		1910	4126	6036	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31597990G>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4587C>A	14.37:g.31597990G>T	ENSP00000382269:p.Ser1529Arg					HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	p.S1529R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	25	5075	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1529			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.4587C>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036545	0.35893	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.56103	0.85;0.85;0.48	6.16	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.53818	0.1820	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.54853	-0.8231	10	0.40728	T	0.16	-7.3109	9.5157	0.39104	0.2074:0.0:0.7926:0.0	.	1529;1529	D3DS86;Q9ULT8	.;HECD1_HUMAN	R	1529;1531;1529;956	ENSP00000450697:S1529R;ENSP00000382269:S1529R;ENSP00000451860:S956R	ENSP00000261312:S1531R	S	-	3	2	HECTD1	30667741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.709000	0.54853	1.626000	0.50381	0.650000	0.86243	AGC		0.453	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			44	143	1	0	1.7489e-18	1	1.94175e-18	44	143				
DSP	1832	broad.mit.edu	37	6	7579637	7579637	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7579637T>C	ENST00000379802.3	+	23	3555	c.3214T>C	c.(3214-3216)Ttc>Ctc	p.F1072L	DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1072	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGTTCCCAGTTCAAAGCGAA	0.498																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3214-3216)Ttc>Ctc		desmoplakin							69.0	74.0	72.0					6																	7579637		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7579637T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3214T>C	6.37:g.7579637T>C	ENSP00000369129:p.Phe1072Leu					DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	p.F1072L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	3555	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1072			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3214T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854328	0.32791	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.71222	-0.55;-0.55	5.67	5.67	0.87782	.	0.088267	0.49916	D	0.000125	T	0.18215	0.0437	N	0.02539	-0.55	0.33600	D	0.602217	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09552	-1.0669	10	0.02654	T	1	.	8.5066	0.33190	0.0:0.1149:0.0:0.8851	.	1119;1072	Q4LE79;P15924	.;DESP_HUMAN	L	1072;1072;877	ENSP00000369129:F1072L;ENSP00000396591:F1072L	ENSP00000369129:F1072L	F	+	1	0	DSP	7524636	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.058000	0.57463	2.159000	0.67721	0.454000	0.30748	TTC		0.498	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		21	349	0	0	0	1	0	21	349				
MN1	4330	broad.mit.edu	37	22	28195094	28195094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28195094C>T	ENST00000302326.4	-	1	2392	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	480					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCCAGAGCGCCGTTGTGCATG	0.682			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1438-1440)Ggc>Agc		meningioma (disrupted in balanced translocation) 1							16.0	20.0	19.0					22																	28195094		2115	4230	6345	SO:0001583	missense	4330						binding	g.chr22:28195094C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1438G>A	22.37:g.28195094C>T	ENSP00000304956:p.Gly480Ser						p.G480S	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2392	-			480					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.1438G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100381	0.56183	.	.	ENSG00000169184	ENST00000302326	T	0.45668	0.89	4.54	4.54	0.55810	.	0.220885	0.31156	N	0.008158	T	0.21962	0.0529	N	0.14661	0.345	0.27568	N	0.94996	P	0.38300	0.626	B	0.29267	0.1	T	0.10520	-1.0626	10	0.25751	T	0.34	-14.7531	12.6665	0.56846	0.0:0.8326:0.1674:0.0	.	480	Q10571	MN1_HUMAN	S	480	ENSP00000304956:G480S	ENSP00000304956:G480S	G	-	1	0	MN1	26525094	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	2.263000	0.43293	2.074000	0.62210	0.313000	0.20887	GGC		0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		26	134	0	0	0	1	0	26	134				
ADAM2	2515	broad.mit.edu	37	8	39606846	39606846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39606846G>A	ENST00000265708.4	-	18	2102	c.1999C>T	c.(1999-2001)Cca>Tca	p.P667S	ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	667					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGTCTGGCTGGTATAGCTACA	0.333																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1999-2001)Cca>Tca		ADAM metallopeptidase domain 2							60.0	60.0	60.0					8																	39606846		2203	4298	6501	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39606846G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1999C>T	8.37:g.39606846G>A	ENSP00000265708:p.Pro667Ser					ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S|ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S	p.P667S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	18	2102	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	667					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1999C>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444814	0.04604	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02032	5.13;4.49;5.37;5.3	1.93	-3.85	0.04243	.	.	.	.	.	T	0.01800	0.0057	L	0.40543	1.245	0.09310	N	1	B;B;P;B	0.38078	0.036;0.127;0.617;0.007	B;B;B;B	0.37144	0.013;0.045;0.242;0.006	T	0.43458	-0.9390	9	0.12430	T	0.62	.	6.3253	0.21240	0.0:0.5358:0.2579:0.2063	.	604;511;648;667	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	S	648;511;667;604	ENSP00000343854:P648S;ENSP00000369182:P511S;ENSP00000265708:P667S;ENSP00000429352:P604S	ENSP00000265708:P667S	P	-	1	0	ADAM2	39726003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.825000	0.00747	-1.126000	0.02929	-0.300000	0.09419	CCA		0.333	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		60	267	0	0	0	1	0	60	267				
ZC3H18	124245	broad.mit.edu	37	16	88677775	88677775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677775C>T	ENST00000301011.5	+	8	1506	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R460*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	436						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgcgagcgagagcggga	0.716																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1306-1308)Cga>Tga		zinc finger CCCH-type containing 18							23.0	21.0	22.0					16																	88677775		2004	3945	5949	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677775C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1306C>T	16.37:g.88677775C>T	ENSP00000301011:p.Arg436*					ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R460*	p.R436*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1506	+			436					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1306C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	c	40	8.273678	0.98737	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	.	.	.	4.22	4.22	0.49857	.	0.185891	0.45867	D	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4202	13.8736	0.63638	0.0:1.0:0.0:0.0	.	.	.	.	X	436;460	.	ENSP00000301011:R436X	R	+	1	2	ZC3H18	87205276	1.000000	0.71417	0.978000	0.43139	0.766000	0.43426	2.287000	0.43505	2.064000	0.61679	0.457000	0.33378	CGA		0.716	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		9	19	0	0	0	1	0	9	19				
C5orf42	65250	broad.mit.edu	37	5	37187945	37187945	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187945C>T	ENST00000508244.1	-	21	3905		c.e21-1		C5orf42_ENST00000425232.2_Splice_Site|C5orf42_ENST00000274258.7_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTGAAGCAACCTAAAGCAGGA	0.343																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.e22-1		chromosome 5 open reading frame 42							69.0	66.0	67.0					5																	37187945		2203	4300	6503	SO:0001630	splice_region_variant	65250							g.chr5:37187945C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3812-1G>A	5.37:g.37187945C>T						C5orf42_ENST00000508244.1_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site				E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		22	4042	-	all_lung(31;0.000616)							A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Splice_Site	SNP	ENST00000508244.1	37		CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003492	0.54254	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.49	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2017	0.54331	0.0:0.8613:0.0:0.1387	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf42	37223702	1.000000	0.71417	0.984000	0.44739	0.698000	0.40448	4.907000	0.63300	0.810000	0.34279	0.491000	0.48974	.		0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	Intron	25	133	0	0	0	1	0	25	133				
HGS	9146	broad.mit.edu	37	17	79667816	79667816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79667816C>T	ENST00000329138.4	+	20	2243	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	SLC25A10_ENST00000571730.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000541223.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	703	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGTCAGTCTCCATGGGCTAC	0.642																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(2107-2109)tCc>tTc		hepatocyte growth factor-regulated tyrosine kinase substrate							46.0	43.0	44.0					17																	79667816		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667816C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2108C>T	17.37:g.79667816C>T	ENSP00000331201:p.Ser703Phe						p.S703F	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2243	+	all_neural(118;0.0878)|all_lung(278;0.23)		703			Gln-rich.|Interaction with NF2.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.2108C>T	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487308	0.84854	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39997	1.05	4.49	4.49	0.54785	.	0.120001	0.34906	U	0.003594	T	0.33962	0.0881	N	0.19112	0.55	0.38773	D	0.95459	P	0.35923	0.528	B	0.39299	0.296	T	0.40117	-0.9580	10	0.51188	T	0.08	-22.7626	16.3251	0.82977	0.0:1.0:0.0:0.0	.	703	O14964	HGS_HUMAN	F	703;617	ENSP00000331201:S703F	ENSP00000331201:S703F	S	+	2	0	HGS	77278221	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	3.762000	0.55250	2.302000	0.77476	0.561000	0.74099	TCC		0.642	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		63	219	0	0	0	1	0	63	219				
INPP5E	56623	broad.mit.edu	37	9	139333311	139333311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139333311G>A	ENST00000371712.3	-	1	963	c.561C>T	c.(559-561)agC>agT	p.S187S	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGGCAGCAGGCTGGGCAGCC	0.697																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(559-561)agC>agT		inositol polyphosphate-5-phosphatase, 72 kDa							10.0	12.0	11.0					9																	139333311		2173	4270	6443	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333311G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.561C>T	9.37:g.139333311G>A							p.S187S	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	963	-		Myeloproliferative disorder(178;0.0511)	187			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.561C>T	CCDS7000.1																																																																																				0.697	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		13	78	0	0	0	1	0	13	78				
DNAH8	1769	broad.mit.edu	37	6	38840488	38840488	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38840488C>T	ENST00000359357.3	+	48	6770	c.6516C>T	c.(6514-6516)gaC>gaT	p.D2172D	DNAH8_ENST00000441566.1_Silent_p.D2136D|DNAH8_ENST00000449981.2_Silent_p.D2389D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2172	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGACTGGACACTGCTACCA	0.408																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6514-6516)gaC>gaT		dynein, axonemal, heavy chain 8							96.0	93.0	94.0					6																	38840488		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38840488C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6516C>T	6.37:g.38840488C>T						DNAH8_ENST00000449981.2_Silent_p.D2389D|DNAH8_ENST00000441566.1_Silent_p.D2136D	p.D2172D							48	6770	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.6516C>T																																																																																					0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		57	289	0	0	0	1	0	57	289				
ANO3	63982	broad.mit.edu	37	11	26669283	26669283	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26669283T>C	ENST00000256737.3	+	24	3308	c.2456T>C	c.(2455-2457)aTc>aCc	p.I819T	ANO3_ENST00000531568.1_Missense_Mutation_p.I673T|ANO3_ENST00000525139.1_Missense_Mutation_p.I803T|ANO3_ENST00000537978.1_Missense_Mutation_p.I803T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	819					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCGAAGGAATCGGTATATTG	0.348																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2455-2457)aTc>aCc		anoctamin 3							133.0	126.0	129.0					11																	26669283		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26669283T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2456T>C	11.37:g.26669283T>C	ENSP00000256737:p.Ile819Thr					ANO3_ENST00000537978.1_Missense_Mutation_p.I803T|ANO3_ENST00000525139.1_Missense_Mutation_p.I803T|ANO3_ENST00000531568.1_Missense_Mutation_p.I673T	p.I819T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			24	3308	+			819					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2456T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742311	0.69418	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.49	5.49	0.81192	.	0.047425	0.85682	D	0.000000	D	0.84710	0.5532	M	0.89968	3.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.78314	0.986;0.991	D	0.88120	0.2831	10	0.87932	D	0	.	15.2657	0.73660	0.0:0.0:0.0:1.0	.	721;819	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	803;803;819;721;673	ENSP00000440737:I803T;ENSP00000432576:I803T;ENSP00000256737:I819T;ENSP00000432394:I673T	ENSP00000256737:I819T	I	+	2	0	ANO3	26625859	1.000000	0.71417	0.959000	0.39883	0.556000	0.35491	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	ATC		0.348	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		66	329	0	0	0	1	0	66	329				
POLR2B	5431	broad.mit.edu	37	4	57887134	57887134	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57887134G>A	ENST00000381227.1	+	18	2806	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H|POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	798					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCATGAATCGTTCAGCTGTA	0.353																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2392-2394)cGt>cAt		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							127.0	117.0	120.0					4																	57887134		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57887134G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2393G>A	4.37:g.57887134G>A	ENSP00000370625:p.Arg798His					POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H|POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H	p.R798H			P30876	RPB2_HUMAN			18	2806	+	Glioma(25;0.08)|all_neural(26;0.181)		798					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2393G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306685	0.95629	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.64	5.64	0.86602	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.108661	0.64402	D	0.000005	T	0.77585	0.4152	L	0.49571	1.57	0.80722	D	1	P;P	0.47034	0.889;0.889	P;P	0.44477	0.451;0.451	T	0.80692	-0.1269	10	0.87932	D	0	.	17.8818	0.88842	0.0:0.0:1.0:0.0	.	723;798	C9J4M6;P30876	.;RPB2_HUMAN	H	798;723;791;798	ENSP00000370625:R798H;ENSP00000391096:R723H;ENSP00000391452:R791H;ENSP00000312735:R798H	ENSP00000312735:R798H	R	+	2	0	POLR2B	57581891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.884000	0.87274	2.657000	0.90304	0.655000	0.94253	CGT		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		80	351	0	0	0	1	0	80	351				
MR1	3140	broad.mit.edu	37	1	181019366	181019366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181019366G>A	ENST00000367580.5	+	3	553	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	MR1_ENST00000282990.6_Missense_Mutation_p.C183Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y|MR1_ENST00000434571.2_Missense_Mutation_p.C183Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	183	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GAAGAAGAATGTATTGCCTGG	0.468																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(547-549)tGt>tAt		major histocompatibility complex, class I-related							101.0	101.0	101.0					1																	181019366		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181019366G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.548G>A	1.37:g.181019366G>A	ENSP00000356552:p.Cys183Tyr					MR1_ENST00000434571.2_Missense_Mutation_p.C183Y|MR1_ENST00000282990.6_Missense_Mutation_p.C183Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y	p.C183Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			3	553	+			183			Alpha-2.|Ligand-binding.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.548G>A	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472613	0.63737	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.99413	7.85;7.85;7.85;-5.86	4.81	3.87	0.44632	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.64402	D	0.000004	D	0.99635	0.9866	H	0.96805	3.885	0.58432	D	0.999993	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	D	0.98210	1.0472	10	0.87932	D	0	.	10.0672	0.42311	0.1034:0.0:0.8966:0.0	.	183;183;138;183;183	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	Y	183;183;183;138	ENSP00000388504:C183Y;ENSP00000356552:C183Y;ENSP00000282990:C183Y;ENSP00000356551:C138Y	ENSP00000282990:C183Y	C	+	2	0	MR1	179285989	0.998000	0.40836	0.992000	0.48379	0.870000	0.49936	2.947000	0.49058	1.174000	0.42811	0.557000	0.71058	TGT		0.468	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		70	367	0	0	0	1	0	70	367				
CCAR1	55749	broad.mit.edu	37	10	70515188	70515188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70515188C>T	ENST00000265872.6	+	13	1639	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	507					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGGTCTCCTTCGTTGGATGGA	0.428																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1519-1521)tCg>tTg		cell division cycle and apoptosis regulator 1							178.0	175.0	176.0					10																	70515188		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70515188C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1520C>T	10.37:g.70515188C>T	ENSP00000265872:p.Ser507Leu					CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L|CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L|CCAR1_ENST00000483264.1_3'UTR	p.S507L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			13	1639	+			507					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1520C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217857	0.58560	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.72	5.72	0.89469	.	0.063959	0.64402	D	0.000004	T	0.74275	0.3695	M	0.84433	2.695	0.80722	D	1	P;P;D	0.89917	0.472;0.528;1.0	B;B;D	0.87578	0.141;0.221;0.998	T	0.77635	-0.2514	10	0.87932	D	0	-1.9755	19.8722	0.96854	0.0:1.0:0.0:0.0	.	492;507;481	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	L	507;492;492;492;481;312	ENSP00000265872:S507L;ENSP00000441820:S492L;ENSP00000445254:S492L;ENSP00000439252:S492L;ENSP00000438610:S481L;ENSP00000439642:S312L	ENSP00000265872:S507L	S	+	2	0	CCAR1	70185194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.700000	0.92200	0.585000	0.79938	TCG		0.428	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		102	421	0	0	0	1	0	102	421				
KIAA0907	22889	broad.mit.edu	37	1	155885736	155885736	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155885736C>A	ENST00000368321.3	-	13	1596	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	KIAA0907_ENST00000368320.3_Missense_Mutation_p.A525S	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	525							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACTGGAAAGGCTGGTGGAGGC	0.413																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1573-1575)Gcc>Tcc		KIAA0907							212.0	210.0	211.0					1																	155885736		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155885736C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1573G>T	1.37:g.155885736C>A	ENSP00000357304:p.Ala525Ser					KIAA0907_ENST00000368321.3_Missense_Mutation_p.A525S	p.A525S			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		13	1598	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		525					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1573G>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752806	0.49362	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T	0.31769	1.48	6.02	5.09	0.68999	.	0.263978	0.41097	N	0.000951	T	0.08403	0.0209	N	0.12182	0.205	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.003	T	0.10894	-1.0610	10	0.23302	T	0.38	-5.3086	14.5869	0.68331	0.2659:0.7341:0.0:0.0	.	525;525	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	S	525	ENSP00000357304:A525S	ENSP00000357303:A525S	A	-	1	0	KIAA0907	154152360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.766000	0.38491	1.517000	0.48917	0.650000	0.86243	GCC		0.413	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		340	1008	1	0	1.99316e-121	1	2.56657e-121	340	1008				
ZNF225	7768	broad.mit.edu	37	19	44636026	44636026	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636026G>T	ENST00000262894.6	+	5	1539	c.1259G>T	c.(1258-1260)aGa>aTa	p.R420I	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TCTCACCAGAGAGCGCACAGT	0.453																																						ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1258-1260)aGa>aTa		zinc finger protein 225							100.0	105.0	103.0					19																	44636026		2197	4297	6494	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636026G>T	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1259G>T	19.37:g.44636026G>T	ENSP00000262894:p.Arg420Ile					ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I|ZNF225_ENST00000592780.1_3'UTR	p.R420I	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	1539	+		Prostate(69;0.0352)|all_neural(266;0.202)	420					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1259G>T	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619663	0.46736	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.24908	1.83	2.65	-5.3	0.02738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	M	0.71036	2.16	0.09310	N	1	D	0.53462	0.96	P	0.44673	0.457	T	0.07849	-1.0751	9	0.59425	D	0.04	.	4.1269	0.10131	0.2968:0.0:0.3695:0.3337	.	420	Q9UK10	ZN225_HUMAN	I	420;384	ENSP00000262894:R420I	ENSP00000262894:R420I	R	+	2	0	ZNF225	49327866	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.654000	0.01984	-1.272000	0.02427	-0.314000	0.08810	AGA		0.453	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			114	447	1	0	9.16818e-52	1	1.13871e-51	114	447				
KAT6B	23522	broad.mit.edu	37	10	76784866	76784866	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76784866A>G	ENST00000287239.4	+	17	4012	c.3523A>G	c.(3523-3525)Acc>Gcc	p.T1175A	KAT6B_ENST00000372711.1_Missense_Mutation_p.T992A|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.T883A|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.T883A|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.T883A	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1175					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCTGGAGCCTACCTGTGAGAT	0.493																																						ENST00000287239.4																			0											c.(3523-3525)Acc>Gcc		K(lysine) acetyltransferase 6B							102.0	91.0	95.0					10																	76784866		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784866A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3523A>G	10.37:g.76784866A>G	ENSP00000287239:p.Thr1175Ala					KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.T992A|KAT6B_ENST00000372724.1_Missense_Mutation_p.T883A|KAT6B_ENST00000372725.1_Missense_Mutation_p.T883A|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.T883A	p.T1175A	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4012	+			1175					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3523A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087274	0.76642	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78707	2.21;2.21;-1.2;2.21;-1.19	5.8	5.8	0.92144	.	0.000000	0.47455	D	0.000221	D	0.85173	0.5636	L	0.55990	1.75	0.53005	D	0.999961	D;P;D	0.67145	0.996;0.891;0.982	D;P;D	0.76071	0.987;0.543;0.952	D	0.86026	0.1510	10	0.59425	D	0.04	-10.4242	14.7076	0.69203	1.0:0.0:0.0:0.0	.	992;883;1175	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	A	883;883;1175;883;992	ENSP00000361810:T883A;ENSP00000361809:T883A;ENSP00000287239:T1175A;ENSP00000361799:T883A;ENSP00000361796:T992A	ENSP00000287239:T1175A	T	+	1	0	KAT6B	76454872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.186000	0.65082	2.212000	0.71576	0.533000	0.62120	ACC		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		57	261	0	0	0	1	0	57	261				
PABPC5	140886	broad.mit.edu	37	X	90691094	90691094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:90691094G>A	ENST00000312600.3	+	2	732	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	173	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTCAACAACCGCCAGGTGTAT	0.498																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(517-519)cGc>cAc		poly(A) binding protein, cytoplasmic 5							38.0	36.0	37.0					X																	90691094		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691094G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.518G>A	X.37:g.90691094G>A	ENSP00000308012:p.Arg173His					PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H	p.R173H	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	732	+			173			RRM 2.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.518G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059164	0.55325	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.94;2.1	4.29	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.67569	2.06	0.58432	D	0.999999	D	0.69078	0.997	P	0.50934	0.654	T	0.15235	-1.0444	10	0.66056	D	0.02	.	13.6186	0.62123	0.0:0.0:1.0:0.0	.	173	Q96DU9	PABP5_HUMAN	H	9;173;141	ENSP00000362197:R9H;ENSP00000308012:R173H	ENSP00000308012:R173H	R	+	2	0	PABPC5	90577750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.382000	0.81193	0.600000	0.82982	CGC		0.498	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		74	204	0	0	0	1	0	74	204				
TENM1	10178	broad.mit.edu	37	X	123554207	123554207	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123554207G>T	ENST00000371130.3	-	24	4978	c.4915C>A	c.(4915-4917)Ctt>Att	p.L1639I	TENM1_ENST00000422452.2_Missense_Mutation_p.L1646I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1639					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTAGCCAGAAGCCCTGTGTTT	0.398																																						ENST00000422452.2																			0											c.(4936-4938)Ctt>Att		teneurin transmembrane protein 1							108.0	100.0	103.0					X																	123554207		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123554207G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4915C>A	X.37:g.123554207G>T	ENSP00000360171:p.Leu1639Ile					TENM1_ENST00000371130.3_Missense_Mutation_p.L1639I|STAG2_ENST00000469481.1_Intron	p.L1646I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					25	4999	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4936C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.442335	0.83993	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90676	-2.71;-2.67	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	M	0.84948	2.725	0.58432	D	0.999994	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.78314	0.978;0.991;0.979	D	0.95347	0.8443	10	0.62326	D	0.03	.	11.9263	0.52820	0.0814:0.0:0.9186:0.0	.	1645;1646;1639	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	1639;1646	ENSP00000360171:L1639I;ENSP00000403954:L1646I	ENSP00000360171:L1639I	L	-	1	0	ODZ1	123381888	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	8.042000	0.89430	2.299000	0.77371	0.553000	0.69018	CTT		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		108	446	1	0	4.07178e-41	1	4.94409e-41	108	446				
MAP3K9	4293	broad.mit.edu	37	14	71267726	71267726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267726G>A	ENST00000554752.2	-	2	477	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGAAAGCACGATAGACCTTC	0.488																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(478-480)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 9							97.0	92.0	94.0					14																	71267726		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267726G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.478C>T	14.37:g.71267726G>A	ENSP00000451612:p.Arg160Cys					MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C	p.R160C			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	477	-			160			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.478C>T		.	.	.	.	.	.	.	.	.	.	G	23.3	4.395903	0.83011	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.90004	-2.6;-2.6	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95031	0.8169	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	160;160	P80192;P80192-4	M3K9_HUMAN;.	C	160	ENSP00000451612:R160C;ENSP00000370649:R160C	ENSP00000005198:R160C	R	-	1	0	MAP3K9	70337479	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.503000	0.73699	2.941000	0.99782	0.655000	0.94253	CGT		0.488	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			94	383	0	0	0	1	0	94	383				
OR6K6	128371	broad.mit.edu	37	1	158725615	158725615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158725615G>T	ENST00000368144.2	+	1	1106	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATCAGAAGAGGGCTGGTTGG	0.408																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1009-1011)aGg>aTg		olfactory receptor, family 6, subfamily K, member 6							79.0	84.0	82.0					1																	158725615		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725615G>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.1010G>T	1.37:g.158725615G>T	ENSP00000357126:p.Arg337Met						p.R337M	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	1106	+	all_hematologic(112;0.0378)		337					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.1010G>T	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233255	0.22626	.	.	ENSG00000180433	ENST00000368144	T	0.38401	1.14	5.26	1.03	0.20045	.	1.356070	0.05214	N	0.507211	T	0.06554	0.0168	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.29336	-1.0015	10	0.33940	T	0.23	-0.0036	2.9484	0.05853	0.1606:0.4079:0.2922:0.1393	.	337	Q8NGW6	OR6K6_HUMAN	M	337	ENSP00000357126:R337M	ENSP00000357126:R337M	R	+	2	0	OR6K6	156992239	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.014000	0.13333	0.031000	0.15407	0.655000	0.94253	AGG		0.408	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		118	326	1	0	2.19568e-55	1	2.74427e-55	118	326				
ZNF676	163223	broad.mit.edu	37	19	22363338	22363338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363338T>G	ENST00000397121.2	-	3	1498	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTTCACATTTGTAGGGCTT	0.423																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1180-1182)aAa>aCa		zinc finger protein 676							76.0	79.0	78.0					19																	22363338		2126	4263	6389	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363338T>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1181A>C	19.37:g.22363338T>G	ENSP00000380310:p.Lys394Thr						p.K394T	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1498	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	394					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1181A>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.934	0.356324	0.11239	.	.	ENSG00000196109	ENST00000397121	T	0.58060	0.36	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54351	0.1853	L	0.28740	0.885	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39078	-0.9631	9	0.59425	D	0.04	.	4.4263	0.11505	0.0:0.0:0.3425:0.6574	.	394	Q8N7Q3	ZN676_HUMAN	T	394	ENSP00000380310:K394T	ENSP00000380310:K394T	K	-	2	0	ZNF676	22155178	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-1.058000	0.03482	0.156000	0.19299	0.155000	0.16302	AAA		0.423	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		67	421	0	0	0	1	0	67	421				
DOCK9	23348	broad.mit.edu	37	13	99667822	99667822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99667822C>T	ENST00000448493.2	-	1	151	c.41G>A	c.(40-42)cGc>cAc	p.R14H	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAAACGGTGCGGATGCCTTT	0.403																																						ENST00000448493.2																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(40-42)cGc>cAc		dedicator of cytokinesis 9							89.0	80.0	83.0					13																	99667822		876	1991	2867	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99667822C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000448493.2:c.41G>A	13.37:g.99667822C>T	ENSP00000401958:p.Arg14His					DOCK9_ENST00000339416.2_Intron	p.R14H			Q9BZ29	DOCK9_HUMAN			1	151	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		0					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000448493.2	37	c.41G>A		.	.	.	.	.	.	.	.	.	.	C	15.66	2.898014	0.52227	.	.	ENSG00000088387	ENST00000448493	T	0.23147	1.92	5.91	5.03	0.67393	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07635	-1.0762	5	.	.	.	.	13.0188	0.58773	0.0:0.9191:0.0:0.0809	.	.	.	.	H	14	ENSP00000401958:R14H	.	R	-	2	0	DOCK9	98465823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.096000	0.57734	1.411000	0.46957	0.655000	0.94253	CGC		0.403	DOCK9-203	KNOWN	basic	protein_coding	protein_coding		NM_015296		10	177	0	0	0	1	0	10	177				
CCDC158	339965	broad.mit.edu	37	4	77305391	77305391	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305391G>A	ENST00000388914.3	-	5	728	c.576C>T	c.(574-576)atC>atT	p.I192I	CCDC158_ENST00000434846.2_Silent_p.I192I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	192										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCAACTAGGATTGACCGGA	0.428																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(574-576)atC>atT		coiled-coil domain containing 158							137.0	127.0	130.0					4																	77305391		1895	4118	6013	SO:0001819	synonymous_variant	339965							g.chr4:77305391G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.576C>T	4.37:g.77305391G>A						CCDC158_ENST00000434846.2_Silent_p.I192I	p.I192I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			5	728	-			192					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.576C>T	CCDS43242.1																																																																																				0.428	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		102	450	0	0	0	1	0	102	450				
NLRP12	91662	broad.mit.edu	37	19	54313950	54313950	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313950C>T	ENST00000324134.6	-	3	1131	c.963G>A	c.(961-963)gaG>gaA	p.E321E	NLRP12_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000391775.3_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	321	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAAGAAGCAGCTCCGTGGGCC	0.567																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(961-963)gaG>gaA		NLR family, pyrin domain containing 12							47.0	50.0	49.0					19																	54313950		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313950C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.963G>A	19.37:g.54313950C>T						NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000391775.3_Silent_p.E321E|NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E	p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1131	-	Ovarian(34;0.19)		321			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.963G>A	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		91	308	0	0	0	1	0	91	308				
FMO4	2329	broad.mit.edu	37	1	171303754	171303754	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171303754C>A	ENST00000367749.3	+	8	1362	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	344					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.L344L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTAAAAGCCTCTGTACAAAGA	0.378																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			1	Substitution - coding silent(1)	p.L344L(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1030-1032)ctC>ctA		flavin containing monooxygenase 4							84.0	89.0	88.0					1																	171303754		2203	4300	6503	SO:0001819	synonymous_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303754C>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1032C>A	1.37:g.171303754C>A							p.L344L	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			8	1362	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		344					Q53XR0	Silent	SNP	ENST00000367749.3	37	c.1032C>A	CCDS1295.1																																																																																				0.378	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		11	561	1	0	0.010729	1	0.0107869	11	561				
AP3M2	10947	broad.mit.edu	37	8	42019805	42019805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42019805C>T	ENST00000518421.1	+	5	743	c.452C>T	c.(451-453)aCg>aTg	p.T151M	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M|AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000517922.1_Missense_Mutation_p.T151M	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	151					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCAGGAAGCACGAATGTGGGT	0.453																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(451-453)aCg>aTg		adaptor-related protein complex 3, mu 2 subunit							144.0	148.0	147.0					8																	42019805		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42019805C>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.452C>T	8.37:g.42019805C>T	ENSP00000428787:p.Thr151Met					AP3M2_ENST00000517922.1_Missense_Mutation_p.T151M|AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M	p.T151M	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		5	743	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	151					B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.452C>T	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460315	0.84317	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.1;-1.15	5.43	5.43	0.79202	.	0.044642	0.85682	D	0.000000	T	0.81983	0.4938	M	0.78049	2.395	0.58432	D	0.999999	D;P	0.57571	0.98;0.951	P;P	0.46237	0.508;0.453	T	0.82281	-0.0535	10	0.37606	T	0.19	-25.2187	19.6166	0.95636	0.0:1.0:0.0:0.0	.	151;151	E7ER80;P53677	.;AP3M2_HUMAN	M	151;151;151;36;151	ENSP00000428787:T151M;ENSP00000174653:T151M;ENSP00000380132:T151M;ENSP00000430616:T36M;ENSP00000429435:T151M	ENSP00000174653:T151M	T	+	2	0	AP3M2	42138962	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.947000	0.49058	2.721000	0.93114	0.655000	0.94253	ACG		0.453	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			179	795	0	0	0	1	0	179	795				
HNRNPUL2	221092	broad.mit.edu	37	11	62482812	62482812	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62482812G>T	ENST00000301785.5	-	14	2395	c.2203C>A	c.(2203-2205)Cga>Aga	p.R735R	HNRNPUL2-BSCL2_ENST00000403734.2_Intron	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	735	Tyr-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTAGTATCGGTCTCTGTCC	0.552																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2203-2205)Cga>Aga		heterogeneous nuclear ribonucleoprotein U-like 2							143.0	147.0	145.0					11																	62482812		1959	4127	6086	SO:0001819	synonymous_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62482812G>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.2203C>A	11.37:g.62482812G>T						RP11-831H9.16_ENST00000403734.2_Intron	p.R735R	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			14	2395	-			735			Tyr-rich.		Q8N3B3	Silent	SNP	ENST00000301785.5	37	c.2203C>A	CCDS41659.1																																																																																				0.552	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		96	411	1	0	1.19196e-48	1	1.47188e-48	96	411				
BTBD9	114781	broad.mit.edu	37	6	38312855	38312855	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38312855A>C	ENST00000481247.1	-	7	1320	c.1169T>G	c.(1168-1170)gTt>gGt	p.V390G	BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G|BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G|BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	390					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GTGAGTCCCAACAATTCGAAT	0.388																																						ENST00000481247.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1168-1170)gTt>gGt		BTB (POZ) domain containing 9							91.0	85.0	87.0					6																	38312855		1836	4097	5933	SO:0001583	missense	114781				cell adhesion			g.chr6:38312855A>C		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1169T>G	6.37:g.38312855A>C	ENSP00000418751:p.Val390Gly					BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G|BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G	p.V390G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN			7	1320	-			390					Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.1169T>G	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245619	0.39697	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98296	-4.85;-4.85;-1.23;-4.85;-4.85	5.45	5.45	0.79879	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.86953	2.85	0.80722	D	1	B;D	0.59357	0.003;0.985	B;D	0.73708	0.003;0.981	D	0.99840	1.1061	10	0.87932	D	0	.	15.5183	0.75842	1.0:0.0:0.0:0.0	.	360;390	Q494V9;Q96Q07	.;BTBD9_HUMAN	G	322;390;360;390;322	ENSP00000323408:V322G;ENSP00000418751:V390G;ENSP00000415365:V360G;ENSP00000386121:V390G;ENSP00000386211:V322G	ENSP00000323408:V322G	V	-	2	0	BTBD9	38420833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.179000	0.89692	2.073000	0.62155	0.383000	0.25322	GTT		0.388	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		53	248	0	0	0	1	0	53	248				
EMR2	30817	broad.mit.edu	37	19	14877892	14877892	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14877892G>T	ENST00000315576.3	-	6	836	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392964.3_5'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	129	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTTTTACAGAGCCTTGGGTTC	0.587																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(385-387)Ctc>Atc		egf-like module containing, mucin-like, hormone receptor-like 2							84.0	77.0	79.0					19																	14877892		2203	4298	6501	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14877892G>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.385C>A	19.37:g.14877892G>T	ENSP00000319883:p.Leu129Ile					EMR2_ENST00000595839.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I	p.L129I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			6	836	-			129			EGF-like 3; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.385C>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	2.433	-0.330439	0.05314	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	3.72	-7.44	0.01379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78194	0.4245	N	0.11313	0.125	0.09310	N	1	B;B;B;B	0.15473	0.004;0.008;0.013;0.007	B;B;B;B	0.17098	0.005;0.007;0.017;0.006	T	0.64980	-0.6279	9	0.27785	T	0.31	.	5.1675	0.15094	0.0949:0.4357:0.3466:0.1228	.	129;129;129;129	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	I	129	ENSP00000319883:L129I;ENSP00000376694:L129I;ENSP00000263380:L129I;ENSP00000376692:L129I;ENSP00000376689:L129I	ENSP00000319883:L129I	L	-	1	0	EMR2	14738892	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.110000	0.00150	-2.490000	0.00517	-0.429000	0.05907	CTC		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			21	572	1	0	7.45023e-12	1	7.97024e-12	21	572				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261692	39261692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39261692G>T	ENST00000391415.1	+	1	109	c.52G>T	c.(52-54)Gac>Tac	p.D18Y		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CTGCGGCCAAGACCTCTGTCA	0.627																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)Gac>Tac		keratin associated protein 4-9																																				SO:0001583	missense	100132386					keratin filament		g.chr17:39261692G>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.52G>T	17.37:g.39261692G>T	ENSP00000375234:p.Asp18Tyr						p.D18Y	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	109	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.52G>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.570	0.473428	0.12521	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32753	1.44	2.51	1.5	0.22942	.	.	.	.	.	T	0.24624	0.0597	M	0.64404	1.975	0.18873	N	0.999982	P	0.34639	0.461	B	0.26202	0.067	T	0.23332	-1.0191	9	0.72032	D	0.01	.	4.0342	0.09722	0.1555:0.2448:0.5997:0.0	.	18	Q9BYQ8	KRA49_HUMAN	Y	18	ENSP00000375234:D18Y	ENSP00000334461:D18Y	D	+	1	0	KRTAP4-9	36515218	0.000000	0.05858	0.616000	0.29078	0.307000	0.27823	0.520000	0.22878	0.163000	0.19507	0.184000	0.17185	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		56	196	1	0	4.65455e-14	1	5.0448e-14	56	196				
CAPN15	6650	broad.mit.edu	37	16	599309	599309	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:599309G>A	ENST00000219611.2	+	6	2043	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	560	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCTGGCGGTGCTGGCGGAGC	0.741																																						ENST00000219611.2																			0											c.(1678-1680)gtG>gtA		calpain 15							10.0	10.0	10.0					16																	599309		2122	4233	6355	SO:0001819	synonymous_variant	6650							g.chr16:599309G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1680G>A	16.37:g.599309G>A						LA16c-366D1.3_ENST00000565879.1_RNA	p.V560V	NM_005632.2	NP_005623.1					6	2043	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.1680G>A	CCDS10410.1																																																																																				0.741	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		21	65	0	0	0	1	0	21	65				
VPS13D	55187	broad.mit.edu	37	1	12371629	12371629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12371629G>A	ENST00000358136.3	+	28	6899	c.6769G>A	c.(6769-6771)Gaa>Aaa	p.E2257K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAACCTGGGAGAACCCATAGA	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6769-6771)Gaa>Aaa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							132.0	135.0	134.0					1																	12371629		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12371629G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6769G>A	1.37:g.12371629G>A	ENSP00000350854:p.Glu2257Lys					VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	p.E2257K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6899	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2257						Missense_Mutation	SNP	ENST00000358136.3	37	c.6769G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672011	0.96754	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.72852	-0.4167	10	0.72032	D	0.01	.	19.7435	0.96241	0.0:0.0:1.0:0.0	.	2257;2257	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2257	ENSP00000348666:E2257K;ENSP00000350854:E2257K	ENSP00000348666:E2257K	E	+	1	0	VPS13D	12294216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.659000	0.90383	0.563000	0.77884	GAA		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		68	662	0	0	0	1	0	68	662				
HUWE1	10075	broad.mit.edu	37	X	53579602	53579602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53579602T>C	ENST00000342160.3	-	61	9204	c.8747A>G	c.(8746-8748)gAc>gGc	p.D2916G	HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2916					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTTACCTGTCCTCAGGTGG	0.542																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(8746-8748)gAc>gGc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							73.0	75.0	74.0					X																	53579602		2201	4298	6499	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53579602T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8747A>G	X.37:g.53579602T>C	ENSP00000340648:p.Asp2916Gly					HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G	p.D2916G			Q7Z6Z7	HUWE1_HUMAN			61	9204	-			2916					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.8747A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484049	0.26598	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.38077	1.16;1.16	6.08	6.08	0.98989	.	0.451805	0.25774	N	0.028384	T	0.20981	0.0505	N	0.14661	0.345	0.36000	D	0.837342	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.24119	-1.0169	10	0.25751	T	0.34	.	9.0556	0.36403	0.0:0.0833:0.0:0.9167	.	2916;2916	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	G	2916	ENSP00000340648:D2916G;ENSP00000262854:D2916G	ENSP00000262854:D2916G	D	-	2	0	HUWE1	53596327	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.535000	0.45685	2.058000	0.61347	0.486000	0.48141	GAC		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		142	435	0	0	0	1	0	142	435				
ITSN1	6453	broad.mit.edu	37	21	35094941	35094941	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35094941T>C	ENST00000381318.3	+	4	458	c.170T>C	c.(169-171)gTt>gCt	p.V57A	ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCTCAACCTGTTTTAGCACAG	0.279																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(169-171)gTt>gCt		intersectin 1 (SH3 domain protein)							68.0	72.0	71.0					21																	35094941		2202	4295	6497	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35094941T>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.170T>C	21.37:g.35094941T>C	ENSP00000370719:p.Val57Ala					ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A	p.V57A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			4	458	+			57			EF-hand 1.|EH 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.170T>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594035	0.66219	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000451686;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.9	5.9	0.94986	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.119758	0.56097	D	0.000027	T	0.55970	0.1954	M	0.75264	2.295	0.58432	D	0.999996	P;P;P;P;D;P;P;P;P	0.65815	0.528;0.528;0.528;0.528;0.995;0.528;0.528;0.719;0.528	P;B;B;B;D;B;B;P;B	0.68039	0.491;0.414;0.414;0.414;0.955;0.414;0.414;0.494;0.414	T	0.59984	-0.7351	10	0.87932	D	0	.	15.9811	0.80111	0.0:0.0:0.0:1.0	.	57;57;57;57;57;57;57;57;57	A8D7D0;A7XZY7;A8CTY7;A8CTY3;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	A	57	ENSP00000382290:V57A;ENSP00000400079:V57A;ENSP00000370719:V57A;ENSP00000370691:V57A;ENSP00000370685:V57A;ENSP00000382301:V57A;ENSP00000382289:V57A;ENSP00000382292:V57A;ENSP00000382286:V57A;ENSP00000407132:V57A;ENSP00000370683:V57A;ENSP00000382275:V57A;ENSP00000387377:V57A;ENSP00000382265:V57A;ENSP00000369294:V57A	ENSP00000369294:V57A	V	+	2	0	ITSN1	34016811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.331000	0.72929	2.248000	0.74166	0.459000	0.35465	GTT		0.279	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		55	151	0	0	0	1	0	55	151				
MT1HL1	645745	broad.mit.edu	37	1	237167644	237167644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237167644C>T	ENST00000464121.2	-	1	74	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_001276687.1	NP_001263616.1	P0DM35	M1BL1_HUMAN	metallothionein 1H-like 1	10	Beta.|Cys-rich.						metal ion binding (GO:0046872)										GTAGGAGCCTCCAGCGGCGCA	0.627																																						ENST00000464121.2																			0											c.(28-30)gGa>gAa		metallothionein 1H-like 1							33.0	36.0	35.0					1																	237167644		692	1591	2283	SO:0001583	missense	645745							g.chr1:237167644C>T	AF333388	CCDS31068.1	1q43	2013-03-07	2013-03-07	2013-03-07	ENSG00000244020	ENSG00000244020		"""Metallothioneins"""	31864	protein-coding gene	gene with protein product			"""metallothionein 1 pseudogene 2"""	MT1P2			Standard	NM_001276687		Approved		uc001hyk.2	P0DM35	OTTHUMG00000040065	ENST00000464121.2:c.29G>A	1.37:g.237167644C>T	ENSP00000476141:p.Gly10Glu						p.G10E	NM_001276687.1	NP_001263616.1					1	74	-									Missense_Mutation	SNP	ENST00000464121.2	37	c.29G>A																																																																																					0.627	MT1HL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096642.4	NM_001039954		14	356	0	0	0	1	0	14	356				
LRP1B	53353	broad.mit.edu	37	2	141114042	141114042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141114042G>T	ENST00000389484.3	-	75	12370	c.11399C>A	c.(11398-11400)cCt>cAt	p.P3800H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3800					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATTCAGTAGGAGCTGGGAT	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11398-11400)cCt>cAt		low density lipoprotein receptor-related protein 1B							58.0	63.0	62.0					2																	141114042		2200	4298	6498	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141114042G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11399C>A	2.37:g.141114042G>T	ENSP00000374135:p.Pro3800His	TSP Lung(27;0.18)					p.P3800H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	75	12370	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3800					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11399C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478651|3.478651	0.63849|0.63849	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.90004	.|-2.6	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Growth factor, receptor (1);	.|0.393018	.|0.26289	.|N	.|0.025236	D|D	0.86112|0.86112	0.5855|0.5855	L|L	0.47716|0.47716	1.5|1.5	0.37760|0.37760	D|D	0.926296|0.926296	.|B	.|0.33448	.|0.412	.|B	.|0.36959	.|0.237	D|D	0.86918|0.86918	0.2065|0.2065	5|10	.|0.66056	.|D	.|0.02	.|.	11.0878|11.0878	0.48097|0.48097	0.111:0.0:0.889:0.0|0.111:0.0:0.889:0.0	.|.	.|3800	.|Q9NZR2	.|LRP1B_HUMAN	I|H	32|3800;3738	.|ENSP00000374135:P3800H	.|ENSP00000374135:P3800H	L|P	-|-	1|2	2|0	LRP1B|LRP1B	140830512|140830512	0.987000|0.987000	0.35691|0.35691	0.910000|0.910000	0.35882|0.35882	0.874000|0.874000	0.50279|0.50279	4.910000|4.910000	0.63321|0.63321	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	281	1	0	3.59834e-05	1	3.67436e-05	6	281				
C2CD3	26005	broad.mit.edu	37	11	73789414	73789414	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73789414G>T	ENST00000334126.7	-	23	4575	c.4349C>A	c.(4348-4350)cCt>cAt	p.P1450H	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1450H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1450					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTCTTGAGAGGGGTCCAAAA	0.453																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(4348-4350)cCt>cAt		C2 calcium-dependent domain containing 3							85.0	80.0	82.0					11																	73789414		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789414G>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4349C>A	11.37:g.73789414G>T	ENSP00000334379:p.Pro1450His					C2CD3_ENST00000313663.7_Missense_Mutation_p.P1450H	p.P1450H			Q4AC94	C2CD3_HUMAN			23	4575	-	Breast(11;4.16e-06)		1450					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4349C>A		.	.	.	.	.	.	.	.	.	.	G	17.30	3.355783	0.61293	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.89875	-2.58;-2.58;-2.58	5.35	5.35	0.76521	.	0.393546	0.28203	N	0.016218	D	0.91442	0.7299	L	0.42245	1.32	0.31271	N	0.691796	D	0.89917	1.0	D	0.72338	0.977	D	0.90329	0.4350	10	0.51188	T	0.08	-8.1999	13.3976	0.60863	0.0776:0.0:0.9224:0.0	.	1450	Q4AC94-1	.	H	1450;1450;1431;258	ENSP00000334379:P1450H;ENSP00000323339:P1450H;ENSP00000388750:P258H	ENSP00000323339:P1450H	P	-	2	0	C2CD3	73467062	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	2.187000	0.42602	2.502000	0.84385	0.650000	0.86243	CCT		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		20	427	1	0	4.63292e-17	1	5.10507e-17	20	427				
OR5H6	79295	broad.mit.edu	37	3	97983282	97983282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97983282C>A	ENST00000383696.2	+	1	195	c.154C>A	c.(154-156)Ctc>Atc	p.L52I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGTAATATATCTCATCACCAT	0.403																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(154-156)Ctc>Atc		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							217.0	225.0	222.0					3																	97983282		2203	4299	6502	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983282C>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.154C>A	3.37:g.97983282C>A	ENSP00000373196:p.Leu52Ile					RP11-325B23.2_ENST00000508616.1_lincRNA	p.L52I	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	195	+			52					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.154C>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	8.244	0.807484	0.16467	.	.	ENSG00000230301	ENST00000383696	T	0.05199	3.48	2.19	1.28	0.21552	.	0.620544	0.13384	N	0.391886	T	0.07548	0.0190	L	0.54908	1.71	0.09310	N	1	B	0.27679	0.185	B	0.31191	0.125	T	0.30679	-0.9970	10	0.42905	T	0.14	.	6.7748	0.23615	0.0:0.8398:0.0:0.1602	.	52	Q8NGV6	OR5H6_HUMAN	I	52	ENSP00000373196:L52I	ENSP00000373196:L52I	L	+	1	0	OR5H6	99465972	0.000000	0.05858	0.010000	0.14722	0.086000	0.17979	-1.962000	0.01514	0.251000	0.21505	0.194000	0.17425	CTC		0.403	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			143	1425	1	0	5.71386e-39	1	6.9007e-39	143	1425				
ZNF878	729747	broad.mit.edu	37	19	12155662	12155662	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12155662G>T	ENST00000547628.1	-	4	691	c.554C>A	c.(553-555)tCt>tAt	p.S185Y	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S232Y|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCTACGAACAGAACTGGGAAA	0.398																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(694-696)tCt>tAt		zinc finger protein 878							174.0	185.0	181.0					19																	12155662		2114	4259	6373	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155662G>T		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.554C>A	19.37:g.12155662G>T	ENSP00000447931:p.Ser185Tyr					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S185Y|CTD-2006C1.10_ENST00000547473.1_Intron	p.S232Y			C9JN71	ZN878_HUMAN			5	694	-			185						Missense_Mutation	SNP	ENST00000547628.1	37	c.695C>A	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	G	1.280	-0.610728	0.03690	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07567	3.18	1.3	-2.6	0.06190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.25992	0.78	0.09310	N	1	D	0.64830	0.994	P	0.61658	0.892	T	0.17471	-1.0368	9	0.14656	T	0.56	.	3.84	0.08911	0.2036:0.0:0.1891:0.6073	.	185	C9JN71	ZN878_HUMAN	Y	185;232	ENSP00000447931:S185Y	ENSP00000447931:S185Y	S	-	2	0	AC022415.4;ZNF878	12016662	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.401000	0.07232	-0.859000	0.04105	-0.656000	0.03901	TCT		0.398	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		164	833	1	0	4.48024e-70	1	5.69e-70	164	833				
DAPK1	1612	broad.mit.edu	37	9	90219966	90219966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90219966C>T	ENST00000408954.3	+	3	495	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000469640.2_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W|DAPK1_ENST00000491893.1_Missense_Mutation_p.R54W	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTCCAGCCGGCGGGGTGTGAG	0.557									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(160-162)Cgg>Tgg		death-associated protein kinase 1							52.0	55.0	53.0					9																	90219966		2180	4292	6472	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90219966C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.160C>T	9.37:g.90219966C>T	ENSP00000386135:p.Arg54Trp					DAPK1_ENST00000408954.3_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W|DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000491893.1_Missense_Mutation_p.R54W	p.R54W			P53355	DAPK1_HUMAN			3	535	+			54			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.160C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807760	0.90623	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.04	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000408	T	0.78848	0.4348	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.81306	-0.0992	10	0.87932	D	0	.	13.9289	0.63981	0.1532:0.8468:0.0:0.0	.	54;54;54	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	W	54	ENSP00000350785:R54W;ENSP00000417076:R54W;ENSP00000418885:R54W;ENSP00000386135:R54W;ENSP00000419026:R54W	ENSP00000350785:R54W	R	+	1	2	DAPK1	89409786	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	1.332000	0.45431	0.511000	0.50034	CGG		0.557	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		52	249	0	0	0	1	0	52	249				
KCNJ10	3766	broad.mit.edu	37	1	160011435	160011435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160011435C>T	ENST00000368089.3	-	2	1114	c.888G>A	c.(886-888)gtG>gtA	p.V296V	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	296					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	AGGAAGTGCGCACCTGACAGG	0.537																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(886-888)gtG>gtA		potassium inwardly-rectifying channel, subfamily J, member 10							78.0	71.0	73.0					1																	160011435		2203	4300	6503	SO:0001819	synonymous_variant	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011435C>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.888G>A	1.37:g.160011435C>T						KCNJ10_ENST00000509700.1_Intron	p.V296V	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	1114	-	all_hematologic(112;0.093)		296					A3KME7|Q5VUT9|Q8N4I7|Q92808	Silent	SNP	ENST00000368089.3	37	c.888G>A	CCDS1193.1																																																																																				0.537	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		38	193	0	0	0	1	0	38	193				
NRXN1	9378	broad.mit.edu	37	2	50149333	50149333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50149333G>A	ENST00000406316.2	-	22	5659	c.4183C>T	c.(4183-4185)Cgg>Tgg	p.R1395W	NRXN1_ENST00000404971.1_Missense_Mutation_p.R1465W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1395					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGGACTCCCGGATCACTTCT	0.537																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4393-4395)Cgg>Tgg		neurexin 1							71.0	59.0	63.0					2																	50149333		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50149333G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4183C>T	2.37:g.50149333G>A	ENSP00000384311:p.Arg1395Trp					NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1395W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W	p.R1465W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		24	5732	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1395					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4393C>T	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.115777|4.115777	0.77323|0.77323	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.73789	.|0.74;1.97;-0.08;-0.09;-0.78;-0.67;-0.38;-0.23	5.95|5.95	5.04|5.04	0.67666|0.67666	.|.	.|0.000000	.|0.48286	.|U	.|0.000200	D|D	0.85230|0.85230	0.5649|0.5649	M|M	0.72118|0.72118	2.19|2.19	0.49483|0.49483	D|D	0.999792|0.999792	.|D;D;D;D;D;D	.|0.89917	.|0.995;1.0;0.999;0.999;0.999;0.999	.|P;D;D;D;D;D	.|0.78314	.|0.802;0.963;0.991;0.932;0.918;0.967	D|D	0.86372|0.86372	0.1724|0.1724	5|10	.|0.87932	.|D	.|0	.|.	16.6034|16.6034	0.84822|0.84822	0.0:0.0:0.8694:0.1306|0.0:0.0:0.8694:0.1306	.|.	.|60;1465;360;1395;1414;57	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	L|W	61|360;314;413;1465;1395;1417;1425;1466;1417;1395	.|ENSP00000341184:R360W;ENSP00000385580:R413W;ENSP00000385142:R1465W;ENSP00000384311:R1395W;ENSP00000434015:R1417W;ENSP00000385017:R1425W;ENSP00000385434:R1417W;ENSP00000385681:R1395W	.|ENSP00000341184:R360W	P|R	-|-	2|1	0|2	NRXN1|NRXN1	50002837|50002837	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.987000|0.987000	0.75469|0.75469	8.001000|8.001000	0.88508|0.88508	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCG|CGG		0.537	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			45	243	0	0	0	1	0	45	243				
OR5T1	390155	broad.mit.edu	37	11	56044027	56044027	+	Missense_Mutation	SNP	C	C	T	rs374592813	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56044027C>T	ENST00000313033.2	+	1	999	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R305W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTACAGTTTGCGGAACAAAGA	0.338													c|||	4	0.000798722	0.0015	0.0	5008	,	,		20909	0.0		0.0	False		,,,				2504	0.002					ENST00000313033.2																			1	Substitution - Missense(1)	p.R305W(1)	kidney(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(913-915)Cgg>Tgg		olfactory receptor, family 5, subfamily T, member 1		C	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	99.0	94.0	95.0		913	2.5	1.0	11		95	0,8592		0,0,4296	no	missense	OR5T1	NM_001004745.1	101	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	305/327	56044027	1,12993	2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56044027C>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.913C>T	11.37:g.56044027C>T	ENSP00000323612:p.Arg305Trp						p.R305W	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	999	+	Esophageal squamous(21;0.00448)		305					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.913C>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707520	0.48412	2.27E-4	0.0	ENSG00000181698	ENST00000313033	T	0.41065	1.01	3.63	2.48	0.30137	.	0.000000	0.52532	D	0.000078	T	0.66877	0.2834	M	0.92026	3.265	0.20307	N	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.58864	-0.7561	10	0.87932	D	0	.	8.4943	0.33119	0.8021:0.1979:0.0:0.0	.	305	Q8NG75	OR5T1_HUMAN	W	305	ENSP00000323612:R305W	ENSP00000323612:R305W	R	+	1	2	OR5T1	55800603	0.132000	0.22450	1.000000	0.80357	0.953000	0.61014	1.223000	0.32527	0.576000	0.29452	-0.607000	0.04081	CGG		0.338	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		24	508	0	0	0	1	0	24	508				
XIRP2	129446	broad.mit.edu	37	2	168108257	168108257	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108257A>C	ENST00000409195.1	+	9	10444	c.10355A>C	c.(10354-10356)aAg>aCg	p.K3452T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3277					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTGACTTCAAGCATGCCCCA	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(10354-10356)aAg>aCg		xin actin-binding repeat containing 2							60.0	61.0	60.0					2																	168108257		1914	4139	6053	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108257A>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10355A>C	2.37:g.168108257A>C	ENSP00000386840:p.Lys3452Thr					XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.K3452T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	10444	+			3277					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.10355A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114071	0.77210	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03496	3.92;3.92;3.91	6.16	6.16	0.99307	.	0.184931	0.49916	D	0.000125	T	0.18087	0.0434	M	0.71581	2.175	0.49213	D	0.999768	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.964	T	0.00035	-1.2259	10	0.72032	D	0.01	-20.7223	15.7887	0.78332	1.0:0.0:0.0:0.0	.	3277;3277;3230	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3452;3452;3230;866	ENSP00000386840:K3452T;ENSP00000295237:K3452T;ENSP00000387255:K3230T	ENSP00000295237:K3452T	K	+	2	0	XIRP2	167816503	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.501000	0.45389	2.367000	0.80283	0.528000	0.53228	AAG		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		65	251	0	0	0	1	0	65	251				
PIWIL4	143689	broad.mit.edu	37	11	94310447	94310447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94310447C>A	ENST00000299001.6	+	4	513	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	101					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTCAGGTTCCAGTGGAATA	0.328																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(301-303)tCc>tAc		piwi-like RNA-mediated gene silencing 4							55.0	53.0	54.0					11																	94310447		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94310447C>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.302C>A	11.37:g.94310447C>A	ENSP00000299001:p.Ser101Tyr					RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.S101Y	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			4	513	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	101					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.302C>A	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884465	0.72410	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.15487	2.42;2.42	5.28	5.28	0.74379	.	0.194570	0.33938	N	0.004404	T	0.36744	0.0978	M	0.79475	2.455	0.80722	D	1	D	0.52996	0.957	P	0.52627	0.704	T	0.19976	-1.0289	10	0.87932	D	0	-21.238	17.8577	0.88771	0.0:1.0:0.0:0.0	.	101	Q7Z3Z4	PIWL4_HUMAN	Y	101;32	ENSP00000299001:S101Y;ENSP00000440499:S32Y	ENSP00000299001:S101Y	S	+	2	0	PIWIL4	93950095	0.986000	0.35501	1.000000	0.80357	0.857000	0.48899	1.039000	0.30266	2.746000	0.94184	0.655000	0.94253	TCC		0.328	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		34	227	1	0	2.68265e-12	1	2.87809e-12	34	227				
GRAMD1B	57476	broad.mit.edu	37	11	123481019	123481019	+	Missense_Mutation	SNP	G	G	A	rs573181030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123481019G>A	ENST00000529750.1	+	13	1790	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	488						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACGCTCACCCGTGTGGCTCGG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17858	0.0		0.001	False		,,,				2504	0.0					ENST00000529750.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1462-1464)cGt>cAt		GRAM domain containing 1B							112.0	112.0	112.0					11																	123481019		2024	4176	6200	SO:0001583	missense	57476					integral to membrane		g.chr11:123481019G>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1463G>A	11.37:g.123481019G>A	ENSP00000436500:p.Arg488His					GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H	p.R488H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	13	1790	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	488					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.1463G>A	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981378	0.93044	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.87578	0.925;0.998;0.869;0.943	T	0.38757	-0.9646	10	0.38643	T	0.18	.	18.5888	0.91200	0.0:0.0:1.0:0.0	.	448;179;488;495	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	H	495;495;488;488;448;179	ENSP00000402457:R495H;ENSP00000325628:R488H;ENSP00000436500:R488H;ENSP00000432987:R448H;ENSP00000388458:R179H	ENSP00000325628:R488H	R	+	2	0	GRAMD1B	122986229	1.000000	0.71417	0.973000	0.42090	0.690000	0.40134	9.388000	0.97237	2.554000	0.86153	0.561000	0.74099	CGT		0.542	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		73	367	0	0	0	1	0	73	367				
SSFA2	6744	broad.mit.edu	37	2	182783536	182783536	+	Nonsense_Mutation	SNP	C	C	T	rs576369806	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182783536C>T	ENST00000431877.2	+	13	3099	c.2920C>T	c.(2920-2922)Caa>Taa	p.Q974*	SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	974						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTTTAGAACACAAATGATGGA	0.363																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2920-2922)Caa>Taa		sperm specific antigen 2							69.0	71.0	70.0					2																	182783536		2203	4300	6503	SO:0001587	stop_gained	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182783536C>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2920C>T	2.37:g.182783536C>T	ENSP00000388731:p.Gln974*					SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*	p.Q974*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		13	3099	+			974					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	37	c.2920C>T	CCDS46467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.729520|9.729520	0.99249|0.99249	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	.|.	.|.	.|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.051759|.	0.85682|.	D|.	0.000000|.	.|D	.|0.83440	.|0.5255	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.83973	.|0.0328	.|4	0.32370|0.87932	T|D	0.25|0	-15.6619|-15.6619	20.7342|20.7342	0.99715|0.99715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	974;974;974;821;483|12	.|.	ENSP00000314669:Q974X|ENSP00000390457:T12I	Q|T	+|+	1|2	0|0	SSFA2|SSFA2	182491781|182491781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.538000|6.538000	0.73852|0.73852	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.363	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		51	249	0	0	0	1	0	51	249				
PAQR9	344838	broad.mit.edu	37	3	142681742	142681742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681742G>A	ENST00000340634.3	-	1	436	c.437C>T	c.(436-438)tCg>tTg	p.S146L	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	146						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGACGCAGCGACAGGCAGCT	0.637																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(436-438)tCg>tTg		progestin and adipoQ receptor family member IX							44.0	43.0	43.0					3																	142681742		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681742G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.437C>T	3.37:g.142681742G>A	ENSP00000341564:p.Ser146Leu						p.S146L	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	436	-			146					Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.437C>T	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225335	0.79576	.	.	ENSG00000188582	ENST00000340634	T	0.37235	1.21	4.62	4.62	0.57501	.	0.095555	0.44285	D	0.000468	T	0.61887	0.2383	M	0.75447	2.3	0.50813	D	0.999891	D	0.89917	1.0	D	0.85130	0.997	T	0.67875	-0.5557	10	0.87932	D	0	-20.5751	17.8396	0.88711	0.0:0.0:1.0:0.0	.	146	Q6ZVX9	PAQR9_HUMAN	L	146	ENSP00000341564:S146L	ENSP00000341564:S146L	S	-	2	0	PAQR9	144164432	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.610000	0.82949	2.277000	0.76020	0.462000	0.41574	TCG		0.637	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		25	167	0	0	0	1	0	25	167				
SLC34A1	6569	broad.mit.edu	37	5	176813505	176813505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813505C>T	ENST00000324417.5	+	5	561	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SLC34A1_ENST00000512593.1_Missense_Mutation_p.T157I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	157					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTGGTGACCGTGCTGGTG	0.627																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(469-471)aCc>aTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							80.0	74.0	76.0					5																	176813505		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176813505C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.470C>T	5.37:g.176813505C>T	ENSP00000321424:p.Thr157Ile					SLC34A1_ENST00000512593.1_Missense_Mutation_p.T157I	p.T157I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	561	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	157					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.470C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141158	0.94560	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.94138	-3.36;-3.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98245	0.9419	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99297	1.0900	10	0.87932	D	0	-28.0744	19.6385	0.95748	0.0:1.0:0.0:0.0	.	157	Q06495	NPT2A_HUMAN	I	157	ENSP00000423022:T157I;ENSP00000321424:T157I	ENSP00000321424:T157I	T	+	2	0	SLC34A1	176746111	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	7.770000	0.85390	2.648000	0.89879	0.563000	0.77884	ACC		0.627	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		89	454	0	0	0	1	0	89	454				
C10orf88	80007	broad.mit.edu	37	10	124692104	124692104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124692104G>A	ENST00000481909.1	-	6	1401	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	393										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TAATCCATAAGTTTCTTTTCC	0.343																																						ENST00000481909.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18						c.(1177-1179)Ctt>Ttt		chromosome 10 open reading frame 88							95.0	93.0	94.0					10																	124692104		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124692104G>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1177C>T	10.37:g.124692104G>A	ENSP00000419126:p.Leu393Phe					C10orf88_ENST00000368891.5_5'UTR	p.L393F	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	6	1401	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	393					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.1177C>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121303	0.56613	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.99	3.11	0.35812	.	0.000000	0.52532	U	0.000075	T	0.72045	0.3412	M	0.79475	2.455	0.40647	D	0.982001	D	0.89917	1.0	D	0.91635	0.999	T	0.74009	-0.3802	9	0.87932	D	0	.	7.8941	0.29695	0.2521:0.0:0.7479:0.0	.	393	Q9H8K7	CJ088_HUMAN	F	393	.	ENSP00000419126:L393F	L	-	1	0	C10orf88	124682094	1.000000	0.71417	0.622000	0.29159	0.897000	0.52465	2.723000	0.47277	1.081000	0.41110	-0.150000	0.13652	CTT		0.343	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		41	184	0	0	0	1	0	41	184				
SLCO2A1	6578	broad.mit.edu	37	3	133654654	133654654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133654654G>A	ENST00000310926.4	-	13	2051	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A517V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	593					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GTAGGCGCAGGCCCCTCGCCT	0.597																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1777-1779)gCc>gTc		solute carrier organic anion transporter family, member 2A1							77.0	65.0	69.0					3																	133654654		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133654654G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1778C>T	3.37:g.133654654G>A	ENSP00000311291:p.Ala593Val					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A517V	p.A593V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			13	2051	-			593					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1778C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	1.617	-0.522622	0.04141	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.44881	0.91;0.91	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.205268	0.50627	D	0.000101	T	0.56790	0.2009	M	0.78344	2.41	0.45704	D	0.998616	D;D	0.59767	0.978;0.986	P;P	0.58077	0.832;0.765	T	0.52041	-0.8628	10	0.14656	T	0.56	.	13.5921	0.61966	0.076:0.0:0.924:0.0	.	517;593	E7EU40;Q92959	.;SO2A1_HUMAN	V	593;517	ENSP00000311291:A593V;ENSP00000418893:A517V	ENSP00000311291:A593V	A	-	2	0	SLCO2A1	135137344	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.218000	0.58554	2.802000	0.96397	0.561000	0.74099	GCC		0.597	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		26	138	0	0	0	1	0	26	138				
RTP1	132112	broad.mit.edu	37	3	186917808	186917808	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186917808G>A	ENST00000312295.4	+	2	772	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	248					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTGGGCCACGGTCCTGCTGCT	0.597																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(742-744)Gtc>Atc		receptor (chemosensory) transporter protein 1							92.0	86.0	88.0					3																	186917808		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917808G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.742G>A	3.37:g.186917808G>A	ENSP00000311712:p.Val248Ile					RP11-208N14.4_ENST00000356133.3_RNA	p.V248I	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	772	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		248						Missense_Mutation	SNP	ENST00000312295.4	37	c.742G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946158	0.53079	.	.	ENSG00000175077	ENST00000312295	T	0.22539	1.95	5.74	5.74	0.90152	.	0.094831	0.45606	D	0.000347	T	0.15998	0.0385	N	0.24115	0.695	0.28188	N	0.927894	B	0.09022	0.002	B	0.09377	0.004	T	0.08027	-1.0742	10	0.30078	T	0.28	.	15.418	0.74987	0.0:0.0:1.0:0.0	.	248	P59025	RTP1_HUMAN	I	248	ENSP00000311712:V248I	ENSP00000311712:V248I	V	+	1	0	RTP1	188400502	0.851000	0.29673	0.992000	0.48379	0.995000	0.86356	2.129000	0.42055	2.723000	0.93209	0.655000	0.94253	GTC		0.597	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		15	569	0	0	0	1	0	15	569				
POLR3B	55703	broad.mit.edu	37	12	106903307	106903307	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106903307C>T	ENST00000228347.4	+	28	3604	c.3382C>T	c.(3382-3384)Ctg>Ttg	p.L1128L	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L1070L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1128					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGGTTAAAACTGTCCAAGTA	0.438																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3382-3384)Ctg>Ttg		polymerase (RNA) III (DNA directed) polypeptide B							108.0	94.0	99.0					12																	106903307		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106903307C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3382C>T	12.37:g.106903307C>T						RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L1070L	p.L1128L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			28	3604	+			1128					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.3382C>T	CCDS9105.1																																																																																				0.438	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		68	270	0	0	0	1	0	68	270				
ZMAT3	64393	broad.mit.edu	37	3	178785445	178785445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785445C>A	ENST00000311417.2	-	2	837	c.96G>T	c.(94-96)caG>caT	p.Q32H	ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GTGGTGGAAGCTGCAAGGTTC	0.582																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(94-96)caG>caT		zinc finger, matrin-type 3							132.0	129.0	130.0					3																	178785445		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785445C>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.96G>T	3.37:g.178785445C>A	ENSP00000311221:p.Gln32His					ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	p.Q32H	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	837	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		32						Missense_Mutation	SNP	ENST00000311417.2	37	c.96G>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623280	0.46840	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.48201	0.93;0.92;0.82	5.86	4.99	0.66335	.	0.693387	0.14830	N	0.295886	T	0.30885	0.0779	N	0.14661	0.345	0.37288	D	0.908141	P;P	0.42649	0.786;0.681	B;B	0.40066	0.318;0.169	T	0.16630	-1.0396	10	0.32370	T	0.25	-19.4788	9.7286	0.40348	0.0:0.8038:0.0:0.1962	.	32;32	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	H	32	ENSP00000311221:Q32H;ENSP00000396506:Q32H;ENSP00000398920:Q32H	ENSP00000311221:Q32H	Q	-	3	2	ZMAT3	180268139	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.452000	0.35156	1.481000	0.48307	0.563000	0.77884	CAG		0.582	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		123	532	1	0	5.18985e-55	1	6.48364e-55	123	532				
KRIT1	889	broad.mit.edu	37	7	91870376	91870376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91870376T>C	ENST00000340022.2	-	5	1211	c.193A>G	c.(193-195)Aca>Gca	p.T65A	KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394507.1_Missense_Mutation_p.T65A|KRIT1_ENST00000466166.1_5'Flank|KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	65	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGCCTTGTGTTATTTCACTG	0.353																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(193-195)Aca>Gca		KRIT1, ankyrin repeat containing							215.0	192.0	200.0					7																	91870376		2203	4300	6503	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91870376T>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.193A>G	7.37:g.91870376T>C	ENSP00000344668:p.Thr65Ala					KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000340022.2_Missense_Mutation_p.T65A|KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A	p.T65A	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	976	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		65					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.193A>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724442	0.30593	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102;ENST00000413688;ENST00000458493	T;T;T;T;T;D;D;D	0.85702	1.05;1.05;1.05;1.05;-0.49;-2.02;-1.61;-1.61	6.08	2.23	0.28157	.	0.224065	0.45867	N	0.000337	T	0.61540	0.2355	N	0.04508	-0.205	0.33513	D	0.591426	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52756	-0.8533	10	0.15499	T	0.54	.	3.9012	0.09162	0.2657:0.1413:0.0:0.593	.	65;65	A6NNU0;O00522	.;KRIT1_HUMAN	A	65	ENSP00000378015:T65A;ENSP00000344668:T65A;ENSP00000410909:T65A;ENSP00000378013:T65A;ENSP00000378011:T65A;ENSP00000391675:T65A;ENSP00000410104:T65A;ENSP00000405835:T65A	ENSP00000344668:T65A	T	-	1	0	KRIT1	91708312	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.893000	0.39758	0.533000	0.28675	-0.336000	0.08194	ACA		0.353	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			83	290	0	0	0	1	0	83	290				
HSD17B12	51144	broad.mit.edu	37	11	43837021	43837021	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43837021A>G	ENST00000278353.4	+	5	545	c.426A>G	c.(424-426)gaA>gaG	p.E142E	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	142					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						AGTATCCTGAATACTTTTTGG	0.313																																					Ovarian(58;548 1143 13948 16572 34258)	ENST00000278353.4																			0				endometrium(2)|large_intestine(4)|lung(4)	10						c.(424-426)gaA>gaG		hydroxysteroid (17-beta) dehydrogenase 12							159.0	147.0	151.0					11																	43837021		2203	4300	6503	SO:0001819	synonymous_variant	51144				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	g.chr11:43837021A>G	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.426A>G	11.37:g.43837021A>G						HSD17B12_ENST00000529261.1_3'UTR	p.E142E	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN			5	545	+			142					A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	ENST00000278353.4	37	c.426A>G	CCDS7905.1																																																																																				0.313	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1			70	325	0	0	0	1	0	70	325				
SLC38A2	54407	broad.mit.edu	37	12	46758265	46758265	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46758265G>T	ENST00000256689.5	-	10	1224	c.780C>A	c.(778-780)acC>acA	p.T260T	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Silent_p.T98T	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	260					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCTGTGTTAAGGTGGTGTTTA	0.368																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(778-780)acC>acA		solute carrier family 38, member 2							263.0	263.0	263.0					12																	46758265		2203	4300	6503	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46758265G>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.780C>A	12.37:g.46758265G>T						SLC38A2_ENST00000551374.1_Silent_p.T98T	p.T260T	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	10	1224	-	Lung SC(27;0.192)|Renal(347;0.236)		260					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.780C>A	CCDS8749.1																																																																																				0.368	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			98	1094	1	0	3.4779e-39	1	4.20191e-39	98	1094				
MYO3A	53904	broad.mit.edu	37	10	26490219	26490219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26490219G>A	ENST00000265944.5	+	33	4737	c.4571G>A	c.(4570-4572)aGa>aAa	p.R1524K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1524					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAACGAAGACCAAGGAAA	0.249																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4570-4572)aGa>aAa		myosin IIIA							24.0	24.0	24.0					10																	26490219		2201	4297	6498	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26490219G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4571G>A	10.37:g.26490219G>A	ENSP00000265944:p.Arg1524Lys					MYO3A_ENST00000543632.1_Intron	p.R1524K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			33	4737	+			1524					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4571G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022481	0.08006	.	.	ENSG00000095777	ENST00000265944	T	0.71341	-0.56	5.71	3.68	0.42216	.	0.205122	0.52532	D	0.000074	T	0.44644	0.1303	N	0.11845	0.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.02654	T	1	.	8.5118	0.33222	0.1928:0.0:0.8072:0.0	.	1524	Q8NEV4	MYO3A_HUMAN	K	1524	ENSP00000265944:R1524K	ENSP00000265944:R1524K	R	+	2	0	MYO3A	26530225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.107000	0.41844	0.644000	0.30656	0.557000	0.71058	AGA		0.249	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	63	0	0	0	1	0	5	63				
PPP2R3A	5523	broad.mit.edu	37	3	135741936	135741936	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135741936C>T	ENST00000264977.3	+	3	2612				PPP2R3A_ENST00000490467.1_Intron|PPP2R3A_ENST00000334546.2_Nonsense_Mutation_p.R9*	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACATCTCTACGAAGGGACCC	0.433																																						ENST00000334546.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(25-27)Cga>Tga		protein phosphatase 2, regulatory subunit B'', alpha							130.0	130.0	130.0					3																	135741936		2203	4300	6503	SO:0001627	intron_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135741936C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1996-3738C>T	3.37:g.135741936C>T						PPP2R3A_ENST00000264977.3_Intron|PPP2R3A_ENST00000490467.1_Intron	p.R9*	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN			1	360	+			0					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Nonsense_Mutation	SNP	ENST00000264977.3	37	c.25C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	40	8.049605	0.98629	.	.	ENSG00000073711	ENST00000334546	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4805	0.67579	0.1467:0.8533:0.0:0.0	.	.	.	.	X	9	.	ENSP00000334748:R9X	R	+	1	2	PPP2R3A	137224626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.390000	0.52523	2.885000	0.99019	0.655000	0.94253	CGA		0.433	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		72	328	0	0	0	1	0	72	328				
MISP	126353	broad.mit.edu	37	19	758615	758615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:758615C>T	ENST00000215582.6	+	2	1772	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	557					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TGTCCTGCGCCGGGAGCAAGA	0.612																																						ENST00000215582.6																			0											c.(1669-1671)Cgg>Tgg		mitotic spindle positioning							50.0	56.0	54.0					19																	758615		2203	4300	6503	SO:0001583	missense	126353							g.chr19:758615C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1669C>T	19.37:g.758615C>T	ENSP00000215582:p.Arg557Trp						p.R557W	NM_173481.2	NP_775752.1					2	1772	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.1669C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694533	0.48202	.	.	ENSG00000099812	ENST00000215582	T	0.80214	-1.35	3.69	-0.449	0.12226	.	0.151230	0.36665	N	0.002465	D	0.85860	0.5795	M	0.66939	2.045	0.36167	D	0.848517	D	0.89917	1.0	D	0.91635	0.999	D	0.87073	0.2161	10	0.87932	D	0	-31.138	10.8909	0.46994	0.597:0.403:0.0:0.0	.	557	Q8IVT2	CS021_HUMAN	W	557	ENSP00000215582:R557W	ENSP00000215582:R557W	R	+	1	2	C19orf21	709615	0.412000	0.25392	0.689000	0.30133	0.563000	0.35712	-0.389000	0.07342	0.225000	0.20959	0.561000	0.74099	CGG		0.612	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		9	465	0	0	0	1	0	9	465				
PCLO	27445	broad.mit.edu	37	7	82544139	82544139	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82544139G>T	ENST00000333891.9	-	7	13500	c.13163C>A	c.(13162-13164)aCc>aAc	p.T4388N	PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N|PCLO_ENST00000423517.2_Missense_Mutation_p.T4388N	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						CTGATCCCTGGTGTCTGCAGA	0.532																																						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.(13162-13164)aCc>aAc		piccolo presynaptic cytomatrix protein							87.0	89.0	88.0					7																	82544139		2047	4194	6241	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.chr7:82544139G>T	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.13163C>A	7.37:g.82544139G>T	ENSP00000334319:p.Thr4388Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.T4388N|PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N	p.T4388N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13500	-			4319						Missense_Mutation	SNP	ENST00000333891.9	37	c.13163C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347387	0.41599	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17691	2.26;2.26	5.75	5.75	0.90469	.	.	.	.	.	T	0.42426	0.1202	M	0.65498	2.005	0.50039	D	0.999844	D;D;D	0.71674	0.988;0.998;0.998	P;D;D	0.66351	0.779;0.943;0.943	T	0.17561	-1.0365	9	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	4319;4388;4388	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	4388;4388;1108	ENSP00000334319:T4388N;ENSP00000388393:T4388N	ENSP00000334319:T4388N	T	-	2	0	PCLO	82382075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.725000	0.93324	0.655000	0.94253	ACC		0.532	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		43	180	1	0	4.44401e-20	1	4.96976e-20	43	180				
CATSPERG	57828	broad.mit.edu	37	19	38852347	38852347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38852347G>A	ENST00000409235.3	+	17	2055	c.1940G>A	c.(1939-1941)aGc>aAc	p.S647N	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	647					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGCCTGCGGAGCCTGCCCAGT	0.672																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(1939-1941)aGc>aAc		catsper channel auxiliary subunit gamma							35.0	37.0	36.0					19																	38852347		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38852347G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1940G>A	19.37:g.38852347G>A	ENSP00000386962:p.Ser647Asn					CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N|CATSPERG_ENST00000215069.4_3'UTR	p.S647N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			17	2055	+			647					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1940G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726067	0.48833	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.31769	1.48;1.48;1.48	4.67	3.63	0.41609	.	1.045340	0.07568	N	0.918079	T	0.16685	0.0401	N	0.08118	0	0.31922	N	0.613368	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27773	-1.0064	10	0.30078	T	0.28	-8.334	6.9527	0.24554	0.8913:0.0:0.1087:0.0	.	647;607	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	N	607;647;647	ENSP00000387057:S607N;ENSP00000386962:S647N;ENSP00000386950:S647N	ENSP00000386962:S647N	S	+	2	0	CATSPERG	43544187	0.102000	0.21896	0.081000	0.20488	0.025000	0.11179	2.917000	0.48821	0.643000	0.30638	-0.628000	0.03992	AGC		0.672	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		5	159	0	0	0	1	0	5	159				
HOOK1	51361	broad.mit.edu	37	1	60330860	60330860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60330860G>T	ENST00000371208.3	+	18	1944	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	563					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGTCCATGAAGAATTACAGAA	0.383																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1687-1689)Gaa>Taa		hook microtubule-tethering protein 1							72.0	74.0	73.0					1																	60330860		2203	4300	6503	SO:0001587	stop_gained	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60330860G>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1687G>T	1.37:g.60330860G>T	ENSP00000360252:p.Glu563*					HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*|HOOK1_ENST00000465876.1_Intron	p.E563*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			18	1944	+	all_cancers(7;0.000129)		563					A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	37	c.1687G>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	42	9.638907	0.99226	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	6.03	6.03	0.97812	.	0.047134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.6398	0.99548	0.0:0.0:1.0:0.0	.	.	.	.	X	563;521	.	ENSP00000360252:E563X	E	+	1	0	HOOK1	60103448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.183000	0.89700	2.881000	0.98747	0.650000	0.86243	GAA		0.383	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		25	197	1	0	2.4375e-19	1	2.7179e-19	25	197				
LHFPL2	10184	broad.mit.edu	37	5	77805796	77805796	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77805796G>A	ENST00000515007.2	-	2	551	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	LHFPL2_ENST00000380345.2_Silent_p.L81L			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	81						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGCCCGCACAGCGTGTCCCGC	0.672																																						ENST00000380345.2																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(241-243)Ctg>Ttg		lipoma HMGIC fusion partner-like 2							22.0	23.0	23.0					5																	77805796		2203	4299	6502	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77805796G>A	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.241C>T	5.37:g.77805796G>A						LHFPL2_ENST00000515007.2_Silent_p.L81L	p.L81L	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	916	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	81					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.241C>T	CCDS4042.1																																																																																				0.672	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		5	161	0	0	0	1	0	5	161				
PDLIM3	27295	broad.mit.edu	37	4	186425703	186425703	+	Silent	SNP	C	C	T	rs61734674	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425703C>T	ENST00000284770.5	-	7	904	c.831G>A	c.(829-831)ccG>ccA	p.P277P	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.P229P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	277					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CTTTCGTCACCGGAGCTCTCA	0.542													C|||	33	0.00658946	0.0227	0.0043	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.0					ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(829-831)ccG>ccA		PDZ and LIM domain 3		C	,	135,4271	96.7+/-135.4	4,127,2072	65.0	57.0	60.0		687,831	-11.1	0.4	4	dbSNP_129	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PDLIM3	NM_001114107.3,NM_014476.4	,	4,128,6371	TT,TC,CC		0.0116,3.064,1.0457	,	229/317,277/365	186425703	136,12870	2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186425703C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.831G>A	4.37:g.186425703C>T						PDLIM3_ENST00000284771.6_Silent_p.P229P|PDLIM3_ENST00000284767.5_3'UTR	p.P277P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	7	904	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	277					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.831G>A	CCDS3844.1																																																																																				0.542	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		25	140	0	0	0	1	0	25	140				
TUBA3C	7278	broad.mit.edu	37	13	19751686	19751686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19751686C>T	ENST00000400113.3	-	4	541	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	146					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAACCCAGAGCCAGTGCCACC	0.562																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(436-438)gGc>gAc		tubulin, alpha 3c							69.0	69.0	69.0					13																	19751686		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751686C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.437G>A	13.37:g.19751686C>T	ENSP00000382982:p.Gly146Asp						p.G146D	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	541	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	146					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.437G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	9.493	1.101209	0.20632	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.96200	-3.94	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000187	D	0.95478	0.8531	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	D	0.94286	0.7524	7	0.87932	D	0	.	8.3041	0.32032	0.0:1.0:0.0:0.0	.	.	.	.	D	146	ENSP00000382982:G146D	ENSP00000354037:G146D	G	-	2	0	TUBA3C	18649686	1.000000	0.71417	0.994000	0.49952	0.186000	0.23388	6.253000	0.72453	0.966000	0.38159	0.162000	0.16502	GGC		0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		60	395	0	0	0	1	0	60	395				
RGPD4	285190	broad.mit.edu	37	2	108488674	108488674	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108488674T>G	ENST00000408999.3	+	20	4291	c.4214T>G	c.(4213-4215)cTt>cGt	p.L1405R	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1405R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1405	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTATTAAAACTTTGTGCCAAT	0.373																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4213-4215)cTt>cGt		RANBP2-like and GRIP domain containing 4							33.0	24.0	26.0					2																	108488674		691	1569	2260	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488674T>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4214T>G	2.37:g.108488674T>G	ENSP00000386810:p.Leu1405Arg					RGPD4_ENST00000354986.4_Missense_Mutation_p.L1405R	p.L1405R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4291	+			1405			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4214T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.39	1.623425	0.28889	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.49720	0.77;0.77	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.64681	0.2620	M	0.88775	2.98	0.34639	D	0.720444	P	0.50272	0.933	P	0.55545	0.778	T	0.76052	-0.3100	9	0.72032	D	0.01	-29.0261	9.2036	0.37275	0.0:0.0:0.0:1.0	.	1405	Q7Z3J3	RGPD4_HUMAN	R	1405	ENSP00000347081:L1405R;ENSP00000386810:L1405R	ENSP00000347081:L1405R	L	+	2	0	RGPD4	107855106	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	7.779000	0.85648	1.072000	0.40860	0.136000	0.15936	CTT		0.373	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		39	1845	0	0	0	1	0	39	1845				
AMOTL1	154810	broad.mit.edu	37	11	94554837	94554837	+	Silent	SNP	G	G	A	rs368335501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94554837G>A	ENST00000433060.2	+	4	1404	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	AMOTL1_ENST00000317829.8_Silent_p.P371P|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	421					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACAGCCCCCGCCTGCCGCCT	0.647																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1261-1263)ccG>ccA		angiomotin like 1		G		2,4040		0,2,2019	32.0	37.0	36.0		1263	-4.8	0.2	11		36	1,8323		0,1,4161	no	coding-synonymous	AMOTL1	NM_130847.2		0,3,6180	AA,AG,GG		0.012,0.0495,0.0243		421/957	94554837	3,12363	2021	4162	6183	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554837G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1263G>A	11.37:g.94554837G>A						AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Silent_p.P371P|AMOTL1_ENST00000317837.9_Intron	p.P421P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			4	1404	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	421					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.1263G>A	CCDS44712.1																																																																																				0.647	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		43	182	0	0	0	1	0	43	182				
ATP8B3	148229	broad.mit.edu	37	19	1785269	1785269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1785269C>T	ENST00000310127.6	-	27	3659	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1104T|ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1151T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1141					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCACAGGGCGGTCCAGTAC	0.602																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3451-3453)Gcc>Acc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							43.0	52.0	49.0					19																	1785269		2194	4294	6488	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785269C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3421G>A	19.37:g.1785269C>T	ENSP00000311336:p.Ala1141Thr					ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1141T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1104T	p.A1151T			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3684	-		Hepatocellular(1079;0.137)	1141					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3451G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068881	0.20147	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58797	0.31;0.31;0.31	4.49	-3.01	0.05463	.	0.680336	0.14630	N	0.307895	T	0.28134	0.0694	L	0.33624	1.015	0.09310	N	1	P;P	0.40282	0.659;0.711	B;B	0.27170	0.056;0.077	T	0.26052	-1.0114	10	0.19590	T	0.45	.	2.3471	0.04274	0.2432:0.4546:0.1267:0.1755	.	1141;1104	O60423;Q7Z485	AT8B3_HUMAN;.	T	1141;1151;1104	ENSP00000311336:A1141T;ENSP00000443574:A1151T;ENSP00000437115:A1104T	ENSP00000311336:A1141T	A	-	1	0	ATP8B3	1736269	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.631000	0.05496	-0.019000	0.14055	0.655000	0.94253	GCC		0.602	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		4	91	0	0	0	1	0	4	91				
SNRNP48	154007	broad.mit.edu	37	6	7606277	7606277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7606277C>T	ENST00000342415.5	+	8	879	c.820C>T	c.(820-822)Cga>Tga	p.R274*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	274					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAAGAAAGGCGATCAGCTTC	0.413																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(820-822)Cga>Tga		small nuclear ribonucleoprotein 48kDa (U11/U12)							117.0	113.0	114.0					6																	7606277		2203	4300	6503	SO:0001587	stop_gained	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7606277C>T	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.820C>T	6.37:g.7606277C>T	ENSP00000339834:p.Arg274*						p.R274*	NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN			8	879	+			274					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Nonsense_Mutation	SNP	ENST00000342415.5	37	c.820C>T	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389206	0.95988	.	.	ENSG00000168566	ENST00000342415	.	.	.	5.75	2.96	0.34315	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.92	4.1917	0.10424	0.286:0.4992:0.1385:0.0763	.	.	.	.	X	274	.	ENSP00000339834:R274X	R	+	1	2	SNRNP48	7551276	0.983000	0.35010	0.295000	0.24960	0.948000	0.59901	0.413000	0.21148	0.337000	0.23665	-0.152000	0.13540	CGA		0.413	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		67	388	0	0	0	1	0	67	388				
MET	4233	broad.mit.edu	37	7	116403139	116403139	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116403139T>C	ENST00000318493.6	+	11	2641	c.2454T>C	c.(2452-2454)tgT>tgC	p.C818C	MET_ENST00000397752.3_Silent_p.C800C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATAATCTGTTGTACCACTC	0.408			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2398-2400)tgT>tgC		met proto-oncogene							101.0	95.0	97.0					7																	116403139		1934	4123	6057	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116403139T>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2454T>C	7.37:g.116403139T>C						MET_ENST00000318493.6_Silent_p.C818C	p.C800C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		11	2600	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	800			IPT/TIG 3.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.2400T>C	CCDS47689.1																																																																																				0.408	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			87	360	0	0	0	1	0	87	360				
C16orf72	29035	broad.mit.edu	37	16	9196949	9196949	+	Missense_Mutation	SNP	G	G	A	rs146827336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9196949G>A	ENST00000327827.7	+	3	813	c.416G>A	c.(415-417)cGt>cAt	p.R139H	RP11-473I1.5_ENST00000565648.1_RNA|RP11-473I1.9_ENST00000574285.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	139										endometrium(4)|large_intestine(2)|lung(2)	8						AGAACTATTCGTCGAGAAGAT	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.0					ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(415-417)cGt>cAt		chromosome 16 open reading frame 72		G	HIS/ARG	9,4385	15.5+/-35.6	0,9,2188	100.0	92.0	95.0		416	5.8	1.0	16	dbSNP_134	95	0,8600		0,0,4300	yes	missense	C16orf72	NM_014117.2	29	0,9,6488	AA,AG,GG		0.0,0.2048,0.0693	probably-damaging	139/276	9196949	9,12985	2197	4300	6497	SO:0001583	missense	29035							g.chr16:9196949G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.416G>A	16.37:g.9196949G>A	ENSP00000331720:p.Arg139His						p.R139H	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			3	813	+			139						Missense_Mutation	SNP	ENST00000327827.7	37	c.416G>A	CCDS10538.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.379836	0.95945	0.002048	0.0	ENSG00000182831	ENST00000327827	T	0.54479	0.57	5.84	5.84	0.93424	.	0.052554	0.85682	D	0.000000	T	0.74711	0.3752	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75479	-0.3303	10	0.66056	D	0.02	-4.3905	20.1294	0.97995	0.0:0.0:1.0:0.0	.	139	Q14CZ0	CP072_HUMAN	H	139	ENSP00000331720:R139H	ENSP00000331720:R139H	R	+	2	0	C16orf72	9104450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.758000	0.94735	0.591000	0.81541	CGT		0.453	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		80	256	0	0	0	1	0	80	256				
NDUFA9	4704	broad.mit.edu	37	12	4796197	4796197	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4796197C>A	ENST00000266544.5	+	11	1077	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	353					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						CATTGAGGTGCTGCGGCGTCA	0.522																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1057-1059)Ctg>Atg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						109.0	83.0	92.0					12																	4796197		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4796197C>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.1057C>A	12.37:g.4796197C>A	ENSP00000266544:p.Leu353Met					NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M|RP11-234B24.6_ENST00000544741.2_Intron	p.L353M	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			11	1077	+			353					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.1057C>A	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776740	0.70107	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	D;D	0.85702	-1.54;-2.02	5.23	3.27	0.37495	.	0.070231	0.64402	D	0.000017	D	0.83991	0.5374	M	0.69463	2.115	0.54753	D	0.999987	D	0.63880	0.993	P	0.46975	0.533	D	0.84522	0.0628	10	0.72032	D	0.01	-10.6984	8.8668	0.35291	0.149:0.7701:0.0:0.081	.	353	Q16795	NDUA9_HUMAN	M	353;112	ENSP00000266544:L353M;ENSP00000439818:L112M	ENSP00000266544:L353M	L	+	1	2	NDUFA9	4666458	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.571000	0.36450	1.331000	0.45412	0.655000	0.94253	CTG		0.522	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		42	140	1	0	3.54909e-21	1	3.99219e-21	42	140				
PCBP2	5094	broad.mit.edu	37	12	53873226	53873226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53873226G>A	ENST00000439930.3	+	14	1120	c.1098G>A	c.(1096-1098)taG>taA	p.*366*	PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000603815.1_Silent_p.*366*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000552296.2_Silent_p.*362*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000455667.3_Silent_p.*319*			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	0					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGCAGCTAGAACAATGCAG	0.478																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1096-1098)taG>taA		poly(rC) binding protein 2							151.0	127.0	135.0					12																	53873226		2203	4300	6503	SO:0001819	synonymous_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53873226G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.1098G>A	12.37:g.53873226G>A						PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000439930.3_Silent_p.*366*|PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000455667.3_Silent_p.*319*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000552296.2_Silent_p.*362*	p.*366*	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			15	1448	+			0					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	ENST00000439930.3	37	c.1098G>A	CCDS44901.1																																																																																				0.478	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		40	137	0	0	0	1	0	40	137				
ZNF205	7755	broad.mit.edu	37	16	3170128	3170128	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3170128G>A	ENST00000382192.3	+	7	1672	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	489					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCCACAGCTCGCACCTCACCG	0.677																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1465-1467)tcG>tcA		zinc finger protein 205							94.0	82.0	86.0					16																	3170128		2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3170128G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1467G>A	16.37:g.3170128G>A						RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S|RP11-473M20.14_ENST00000575139.1_RNA	p.S489S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			7	1672	+			489					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.1467G>A	CCDS10494.2																																																																																				0.677	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		120	502	0	0	0	1	0	120	502				
TRA2A	29896	broad.mit.edu	37	7	23556038	23556038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23556038G>A	ENST00000297071.4	-	3	496	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	94	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CGGCTCCTTCGCCGCCGGTAT	0.443																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(280-282)Cga>Tga		transformer 2 alpha homolog (Drosophila)							83.0	71.0	75.0					7																	23556038		2203	4300	6503	SO:0001587	stop_gained	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23556038G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.280C>T	7.37:g.23556038G>A	ENSP00000297071:p.Arg94*					TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	p.R94*	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			3	496	-			94			Arg/Ser-rich (RS1 domain).		B4DUA9	Nonsense_Mutation	SNP	ENST00000297071.4	37	c.280C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468558	0.96274	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.88	4.0	0.46444	.	0.058669	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.982	15.5939	0.76562	0.0:0.0:0.7503:0.2497	.	.	.	.	X	94	.	ENSP00000297071:R94X	R	-	1	2	TRA2A	23522563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.180000	0.50895	1.484000	0.48361	0.460000	0.39030	CGA		0.443	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		67	215	0	0	0	1	0	67	215				
KIF15	56992	broad.mit.edu	37	3	44867676	44867676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867676C>A	ENST00000326047.4	+	21	2844	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	899					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAATCTGATCTGAATGTATG	0.368																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(2695-2697)Ctg>Atg		kinesin family member 15							118.0	134.0	129.0					3																	44867676		2202	4300	6502	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44867676C>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2695C>A	3.37:g.44867676C>A	ENSP00000324020:p.Leu899Met					KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	p.L899M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	21	2844	+			899					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.2695C>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983609	0.53827	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.59906	0.23;0.23;0.23	5.72	4.85	0.62838	.	0.000000	0.40908	D	0.000998	T	0.70859	0.3272	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.73493	-0.3965	10	0.59425	D	0.04	.	13.7611	0.62966	0.0:0.9248:0.0:0.0752	.	899	Q9NS87	KIF15_HUMAN	M	899;671;898;534	ENSP00000324020:L899M;ENSP00000425499:L671M;ENSP00000389982:L534M	ENSP00000324020:L899M	L	+	1	2	KIF15	44842680	0.712000	0.27916	0.985000	0.45067	0.522000	0.34438	1.053000	0.30442	1.431000	0.47355	0.591000	0.81541	CTG		0.368	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			21	624	1	0	3.62473e-10	1	3.83521e-10	21	624				
ZFC3H1	196441	broad.mit.edu	37	12	72030364	72030364	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72030364T>C	ENST00000378743.3	-	9	2364	c.2006A>G	c.(2005-2007)aAt>aGt	p.N669S	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	669					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATTGATAGATTGCTTCTTGG	0.418																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2005-2007)aAt>aGt		zinc finger, C3H1-type containing							167.0	156.0	160.0					12																	72030364		1886	4122	6008	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72030364T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2006A>G	12.37:g.72030364T>C	ENSP00000368017:p.Asn669Ser						p.N669S	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			9	2364	-			669					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2006A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759292	0.49468	.	.	ENSG00000133858	ENST00000378743	T	0.40225	1.04	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.19112	0.55	0.80722	D	1	P	0.41978	0.767	B	0.40940	0.344	T	0.05007	-1.0912	10	0.23302	T	0.38	.	11.0562	0.47920	0.0:0.0:0.1553:0.8447	.	669	O60293	ZC3H1_HUMAN	S	669	ENSP00000368017:N669S	ENSP00000368017:N669S	N	-	2	0	ZFC3H1	70316631	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.695000	0.61767	1.943000	0.56356	0.383000	0.25322	AAT		0.418	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		13	474	0	0	0	1	0	13	474				
CRIM1	51232	broad.mit.edu	37	2	36691752	36691752	+	Silent	SNP	C	C	T	rs372559618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502																																						ENST00000280527.2																			1	Substitution - coding silent(1)	p.G315G(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(943-945)ggC>ggT		cysteine rich transmembrane BMP regulator 1 (chordin-like)		C		1,4405	2.1+/-5.4	0,1,2202	307.0	280.0	289.0		945	3.6	1.0	2		289	0,8600		0,0,4300	no	coding-synonymous	CRIM1	NM_016441.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		315/1037	36691752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691752C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.945C>T	2.37:g.36691752C>T							p.G315G	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			5	1312	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	315					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.945C>T	CCDS1783.1																																																																																				0.502	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		152	810	0	0	0	1	0	152	810				
OGDH	4967	broad.mit.edu	37	7	44747483	44747483	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747483C>A	ENST00000222673.5	+	23	2999	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D	OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000447398.1_Missense_Mutation_p.A997D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	986					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTCAGGTATGCCGGCCGGGAC	0.662																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2956-2958)gCc>gAc		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						43.0	43.0	43.0					7																	44747483		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747483C>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2957C>A	7.37:g.44747483C>A	ENSP00000222673:p.Ala986Asp					OGDH_ENST00000447398.1_Missense_Mutation_p.A997D|OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D	p.A986D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			23	2999	+			986					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2957C>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924983	0.52759	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.0	4.11	0.48088	.	0.106700	0.64402	D	0.000006	T	0.30947	0.0781	M	0.93507	3.425	0.51482	D	0.999925	B;B;B;B;B	0.29955	0.167;0.263;0.071;0.071;0.071	B;B;B;B;B	0.35182	0.13;0.197;0.128;0.128;0.128	T	0.31223	-0.9951	10	0.87932	D	0	-13.4744	13.1166	0.59303	0.0:0.9208:0.0:0.0792	.	781;836;982;997;986	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	D	836;982;997;1001;986;937	ENSP00000398576:A836D;ENSP00000392878:A982D;ENSP00000388183:A997D;ENSP00000414662:A1001D;ENSP00000222673:A986D;ENSP00000443821:A937D	ENSP00000222673:A986D	A	+	2	0	OGDH	44714008	0.975000	0.34042	0.441000	0.26858	0.913000	0.54294	2.416000	0.44644	1.233000	0.43693	0.313000	0.20887	GCC		0.662	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			35	377	1	0	9.17885e-22	1	1.03586e-21	35	377				
GSE1	23199	broad.mit.edu	37	16	85699592	85699592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85699592G>A	ENST00000253458.7	+	13	2945	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	GSE1_ENST00000405402.2_Silent_p.T819T|GSE1_ENST00000393243.1_Silent_p.T850T	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	923																	AACCAGCCACGCAGCAAGCCT	0.522																																						ENST00000253458.7																			0											c.(2767-2769)acG>acA		Gse1 coiled-coil protein							41.0	46.0	44.0					16																	85699592		2198	4300	6498	SO:0001819	synonymous_variant	23199							g.chr16:85699592G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2769G>A	16.37:g.85699592G>A						GSE1_ENST00000405402.2_Silent_p.T819T|GSE1_ENST00000393243.1_Silent_p.T850T	p.T923T	NM_014615.2	NP_055430.1					13	2945	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.2769G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.697885	0.00725	.	.	ENSG00000131149	ENST00000412692;ENST00000438180	.	.	.	5.28	-4.61	0.03380	.	.	.	.	.	T	0.52853	0.1760	.	.	.	0.52501	D	0.999957	.	.	.	.	.	.	T	0.50792	-0.8786	4	.	.	.	-6.0061	9.7617	0.40537	0.5143:0.0:0.3964:0.0893	.	.	.	.	H	692;125	.	.	R	+	2	0	KIAA0182	84257093	0.003000	0.15002	0.390000	0.26220	0.009000	0.06853	-0.179000	0.09768	-1.811000	0.01229	-4.500000	0.00005	CGC		0.522	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		91	274	0	0	0	1	0	91	274				
DMPK	1760	broad.mit.edu	37	19	46275971	46275971	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46275971C>A	ENST00000291270.4	-	10	1397	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000600757.1_Missense_Mutation_p.E429D|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	424					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTGCTCGGCCTCCAGTTCCA	0.632																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1285-1287)gaG>gaT		dystrophia myotonica-protein kinase							44.0	45.0	45.0					19																	46275971		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46275971C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1272G>T	19.37:g.46275971C>A	ENSP00000291270:p.Glu424Asp					DMPK_ENST00000291270.4_Missense_Mutation_p.E424D|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D	p.E429D			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	9	1974	-		Ovarian(192;0.0308)|all_neural(266;0.112)	434					E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.1287G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	16.24	3.066487	0.55539	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.67523	-0.27;-0.25;-0.27;-0.26;-0.2	3.87	3.87	0.44632	AGC-kinase, C-terminal (1);	0.000000	0.43747	D	0.000539	T	0.69771	0.3148	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;P;D;D	0.76494	0.916;0.734;0.907;0.816;0.615;0.849;0.993;0.999	P;B;P;B;B;B;P;P	0.60415	0.631;0.391;0.59;0.311;0.219;0.386;0.864;0.874	T	0.67898	-0.5551	10	0.35671	T	0.21	.	11.5239	0.50569	0.0:1.0:0.0:0.0	.	419;424;450;419;419;424;466;434	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	D	419;450;424;419;419;434;434;419	ENSP00000401753:E419D;ENSP00000291270:E424D;ENSP00000413417:E419D;ENSP00000345997:E434D;ENSP00000346168:E419D	ENSP00000291270:E424D	E	-	3	2	DMPK	50967811	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	3.471000	0.53107	2.157000	0.67596	0.561000	0.74099	GAG		0.632	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		11	192	1	0	3.86212e-05	1	3.93988e-05	11	192				
ULK4	54986	broad.mit.edu	37	3	41756938	41756938	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41756938C>A	ENST00000301831.4	-	24	3040		c.e24+1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4						cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACAATAGTACCTGTGAAGTT	0.393																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.e24+1		unc-51 like kinase 4							96.0	94.0	95.0					3																	41756938		1901	4127	6028	SO:0001630	splice_region_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41756938C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2577+1G>T	3.37:g.41756938C>A								NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	24	3040	-								A6NF15|Q8IW79|Q9NWV6|Q9UF96	Splice_Site	SNP	ENST00000301831.4	37		CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383800	0.61845	.	.	ENSG00000168038	ENST00000301831	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8774	0.96884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK4	41731942	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	6.775000	0.75018	2.703000	0.92315	0.650000	0.86243	.		0.393	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	Intron	61	275	1	0	3.8128e-34	1	4.53067e-34	61	275				
MYO5B	4645	broad.mit.edu	37	18	47363955	47363955	+	Silent	SNP	G	G	A	rs199837997	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363955G>A	ENST00000285039.7	-	37	5369	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.N805N|MYO5B_ENST00000592688.1_Silent_p.N260N|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1690	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCACTGCGTTGATCATGT	0.512													G|||	4	0.000798722	0.0	0.0058	5008	,	,		23021	0.0		0.0	False		,,,				2504	0.0					ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5068-5070)aaC>aaT		myosin VB		G		1,4077		0,1,2038	68.0	65.0	66.0		5070	-3.4	0.4	18		66	0,8374		0,0,4187	no	coding-synonymous	MYO5B	NM_001080467.2		0,1,6225	AA,AG,GG		0.0,0.0245,0.0080		1690/1849	47363955	1,12451	2039	4187	6226	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363955G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5070C>T	18.37:g.47363955G>A						MYO5B_ENST00000324581.6_Silent_p.N805N|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|MYO5B_ENST00000592688.1_Silent_p.N260N	p.N1690N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5369	-			1690			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.5070C>T	CCDS42436.1																																																																																				0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			53	195	0	0	0	1	0	53	195				
KLHL34	257240	broad.mit.edu	37	X	21675171	21675171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21675171C>T	ENST00000379499.2	-	1	1277	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	246						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TTGACCCGGGCGGGCAGCACG	0.682													C|||	1	0.000264901	0.0008	0.0	3775	,	,		10801	0.0		0.0	False		,,,				2504	0.0					ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(736-738)Gcc>Acc		kelch-like family member 34							18.0	18.0	18.0					X																	21675171		2198	4293	6491	SO:0001583	missense	257240							g.chrX:21675171C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.736G>A	X.37:g.21675171C>T	ENSP00000368813:p.Ala246Thr						p.A246T	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1277	-			246						Missense_Mutation	SNP	ENST00000379499.2	37	c.736G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692502	0.00731	.	.	ENSG00000185915	ENST00000379499	T	0.72505	-0.66	4.65	-0.922	0.10468	.	0.198499	0.44097	N	0.000496	T	0.46171	0.1379	L	0.31578	0.945	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14615	-1.0466	10	0.12430	T	0.62	.	3.0359	0.06122	0.13:0.4688:0.248:0.1531	.	246	Q8N239	KLH34_HUMAN	T	246	ENSP00000368813:A246T	ENSP00000368813:A246T	A	-	1	0	KLHL34	21585092	0.000000	0.05858	0.009000	0.14445	0.381000	0.30169	-0.519000	0.06260	-0.187000	0.10516	0.422000	0.28245	GCC		0.682	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		32	112	0	0	0	1	0	32	112				
SLC37A3	84255	broad.mit.edu	37	7	140035278	140035278	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140035278C>T	ENST00000326232.9	-	15	1622	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	SLC37A3_ENST00000340308.3_Missense_Mutation_p.A373T|SLC37A3_ENST00000447932.2_Silent_p.S457S	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	473					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTATTAATGGCGAGATAAACA	0.393																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000340308.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24						c.(1117-1119)Gcc>Acc		solute carrier family 37, member 3							72.0	67.0	68.0					7																	140035278		2203	4300	6503	SO:0001819	synonymous_variant	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140035278C>T	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1419G>A	7.37:g.140035278C>T						SLC37A3_ENST00000447932.2_Silent_p.S457S|SLC37A3_ENST00000326232.9_Silent_p.S473S	p.A373T	NM_032295.2	NP_115671.1	Q8NCC5	SPX3_HUMAN			12	1228	-	Melanoma(164;0.0142)		0					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.1117G>A	CCDS5859.1	.	.	.	.	.	.	.	.	.	.	C	8.445	0.851696	0.17034	.	.	ENSG00000157800	ENST00000340308;ENST00000491357;ENST00000492027	T	0.19105	2.17	5.18	-10.4	0.00318	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.29336	-1.0015	8	0.33940	T	0.23	-35.976	6.1954	0.20548	0.155:0.4635:0.2354:0.1461	.	373	Q8NCC5-3	.	T	373;52;60	ENSP00000343358:A373T	ENSP00000343358:A373T	A	-	1	0	SLC37A3	139681747	0.029000	0.19370	0.007000	0.13788	0.674000	0.39518	-1.420000	0.02457	-3.521000	0.00148	-0.312000	0.09012	GCC		0.393	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		7	343	0	0	0	1	0	7	343				
VPS9D1	9605	broad.mit.edu	37	16	89774857	89774857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89774857G>T	ENST00000389386.3	-	14	1904	c.1780C>A	c.(1780-1782)Ctg>Atg	p.L594M	VPS9D1_ENST00000561976.1_Missense_Mutation_p.L524M|VPS9D1_ENST00000565452.1_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	594	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										AACTCCTCCAGGGCCGCGCAC	0.647																																						ENST00000561976.1																			0											c.(1570-1572)Ctg>Atg		VPS9 domain containing 1							23.0	29.0	27.0					16																	89774857		2104	4217	6321	SO:0001583	missense	9605							g.chr16:89774857G>T	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1780C>A	16.37:g.89774857G>T	ENSP00000374037:p.Leu594Met					VPS9D1_ENST00000389386.3_Missense_Mutation_p.L594M	p.L524M							13	1947	-									Missense_Mutation	SNP	ENST00000389386.3	37	c.1570C>A	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315701	0.40996	.	.	ENSG00000075399	ENST00000389386	T	0.32272	1.46	5.13	3.16	0.36331	Vacuolar sorting protein 9 (2);	0.000000	0.64402	D	0.000001	T	0.32585	0.0834	N	0.16266	0.395	0.46954	D	0.99926	D	0.89917	1.0	D	0.97110	1.0	T	0.04065	-1.0980	10	0.12103	T	0.63	-1.9553	10.4986	0.44791	0.1606:0.0:0.8394:0.0	.	594	Q9Y2B5	CP007_HUMAN	M	594	ENSP00000374037:L594M	ENSP00000374037:L594M	L	-	1	2	C16orf7	88302358	0.743000	0.28239	1.000000	0.80357	0.880000	0.50808	0.999000	0.29757	0.563000	0.29222	0.462000	0.41574	CTG		0.647	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		41	107	1	0	7.62715e-32	1	8.98937e-32	41	107				
RPSA	3921	broad.mit.edu	37	3	39450202	39450202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39450202G>T	ENST00000301821.6	+	3	348	c.239G>T	c.(238-240)aGg>aTg	p.R80M	SNORA6_ENST00000384033.1_RNA|RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Missense_Mutation_p.R80M|SNORA62_ENST00000365493.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATATCCTCCAGGAATACTGGC	0.388																																						ENST00000301821.6																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(238-240)aGg>aTg		ribosomal protein SA							53.0	57.0	56.0					3																	39450202		2203	4299	6502	SO:0001583	missense	3921				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr3:39450202G>T	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"""laminin receptor 1 (67kD, ribosomal protein SA)"""	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.239G>T	3.37:g.39450202G>T	ENSP00000346067:p.Arg80Met					RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Missense_Mutation_p.R80M	p.R80M	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	348	+			80			Interaction with PPP1R16B.			Missense_Mutation	SNP	ENST00000301821.6	37	c.239G>T	CCDS2686.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753442	0.89753	.	.	ENSG00000168028	ENST00000301821;ENST00000458478;ENST00000443003	T;T;T	0.52057	0.68;0.68;0.68	4.53	4.53	0.55603	Ribosomal protein S2, flavodoxin-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80555	0.4645	H	0.99225	4.475	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	D;P	0.65233	0.933;0.895	D	0.89040	0.3448	10	0.87932	D	0	.	15.1272	0.72493	0.0:0.0:1.0:0.0	.	80;80	C9J9K3;P08865	.;RSSA_HUMAN	M	80	ENSP00000346067:R80M;ENSP00000410848:R80M;ENSP00000389351:R80M	ENSP00000346067:R80M	R	+	2	0	RPSA	39425206	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.463000	0.97652	2.220000	0.72140	0.462000	0.41574	AGG		0.388	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295		27	470	1	0	1.06801e-11	1	1.14091e-11	27	470				
STIL	6491	broad.mit.edu	37	1	47767944	47767944	+	Missense_Mutation	SNP	G	G	A	rs147160336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47767944G>A	ENST00000360380.3	-	5	590	c.227C>T	c.(226-228)tCg>tTg	p.S76L	STIL_ENST00000337817.5_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L|STIL_ENST00000371877.3_Missense_Mutation_p.S76L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	76					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AAAGCATGACGAATTTTTTTT	0.413																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(226-228)tCg>tTg		SCL/TAL1 interrupting locus		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	120.0	125.0	123.0		227,227	3.1	0.4	1	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	STIL	NM_001048166.1,NM_003035.2	145,145	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	76/1289,76/1288	47767944	4,13002	2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47767944G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.227C>T	1.37:g.47767944G>A	ENSP00000353544:p.Ser76Leu					STIL_ENST00000337817.5_Missense_Mutation_p.S76L|STIL_ENST00000371877.3_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L	p.S76L			Q15468	STIL_HUMAN			5	590	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	76					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.227C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420075	0.01136	2.27E-4	3.49E-4	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475;ENST00000413565	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.42	3.12	0.35913	.	0.418972	0.25723	N	0.028724	T	0.07908	0.0198	N	0.00289	-1.7	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.33727	-0.9857	10	0.12103	T	0.63	0.1076	6.5954	0.22669	0.6468:0.0:0.3532:0.0	.	76;76;76;76;76	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	L	76;76;76;76;76;76;80	ENSP00000353544:S76L;ENSP00000337367:S76L;ENSP00000360944:S76L;ENSP00000379523:S76L;ENSP00000243182:S76L;ENSP00000411664:S76L;ENSP00000412019:S80L	ENSP00000243182:S76L	S	-	2	0	STIL	47540531	0.582000	0.26749	0.384000	0.26145	0.240000	0.25518	3.262000	0.51538	0.374000	0.24650	-0.391000	0.06502	TCG		0.413	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		11	242	0	0	0	1	0	11	242				
RBP4	5950	broad.mit.edu	37	10	95353756	95353756	+	Missense_Mutation	SNP	G	G	A	rs577540732		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353756G>A	ENST00000371467.1	-	5	711	c.392C>T	c.(391-393)aCg>aTg	p.T131M	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M|RBP4_ENST00000371469.2_Missense_Mutation_p.T129M			P02753	RET4_HUMAN	retinol binding protein 4, plasma	131					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CACGGCATACGTGTCGTAGTC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		15959	0.001		0.0	False		,,,				2504	0.0				Pancreas(5;160 256 1117 46697 50185)	ENST00000371467.1																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(391-393)aCg>aTg		retinol binding protein 4, plasma	Vitamin A(DB00162)						157.0	111.0	126.0					10																	95353756		2203	4300	6503	SO:0001583	missense	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95353756G>A	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.392C>T	10.37:g.95353756G>A	ENSP00000360522:p.Thr131Met					FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M|RBP4_ENST00000371469.2_Missense_Mutation_p.T129M	p.T131M			P02753	RET4_HUMAN			5	711	-		Colorectal(252;0.122)	131					D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	ENST00000371467.1	37	c.392C>T	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480046	0.84747	.	.	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	D;D	0.83250	-1.7;-1.7	5.82	5.82	0.92795	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.044055	0.85682	D	0.000000	D	0.90352	0.6981	M	0.67953	2.075	0.53005	D	0.999966	D	0.89917	1.0	D	0.66497	0.944	D	0.90539	0.4501	10	0.87932	D	0	-28.7418	20.0851	0.97797	0.0:0.0:1.0:0.0	.	131	P02753	RET4_HUMAN	M	131;129;131;129	ENSP00000360519:T131M;ENSP00000360522:T131M	ENSP00000360518:T129M	T	-	2	0	RBP4	95343746	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	5.843000	0.69424	2.743000	0.94032	0.563000	0.77884	ACG		0.582	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		88	414	0	0	0	1	0	88	414				
MYEOV2	150678	broad.mit.edu	37	2	241073376	241073376	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073376T>G	ENST00000607357.1	-	2	128	c.110A>C	c.(109-111)aAg>aCg	p.K37T	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.K68T	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	37										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ATGAACGGCCTTTTCATTGGC	0.483																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(202-204)aAg>aCg		myeloma overexpressed 2							123.0	127.0	126.0					2																	241073376		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241073376T>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.110A>C	2.37:g.241073376T>G	ENSP00000475979:p.Lys37Thr					MYEOV2_ENST00000607357.1_Missense_Mutation_p.K37T|MYEOV2_ENST00000489698.1_5'UTR	p.K68T	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	2	202	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	37					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.203A>C		.	.	.	.	.	.	.	.	.	.	T	22.4	4.280652	0.80692	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.77705	0.4170	.	.	.	0.80722	D	1	D;D	0.67145	0.968;0.996	D;D	0.75484	0.969;0.986	T	0.80828	-0.1208	8	0.87932	D	0	-11.1793	12.1591	0.54093	0.0:0.0:0.0:1.0	.	37;68	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	T	68;58	.	ENSP00000304147:K68T	K	-	2	0	MYEOV2	240722049	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.262000	0.72514	1.817000	0.53016	0.528000	0.53228	AAG		0.483	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		81	480	0	0	0	1	0	81	480				
MARK2	2011	broad.mit.edu	37	11	63667527	63667527	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63667527T>C	ENST00000509502.2	+	8	1077	c.614T>C	c.(613-615)gTt>gCt	p.V205A	MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000402010.2_Missense_Mutation_p.V238A|MARK2_ENST00000413835.2_Missense_Mutation_p.V238A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCCTAGGAGTTATCCTCTAT	0.507																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(712-714)gTt>gCt		MAP/microtubule affinity-regulating kinase 2							164.0	176.0	172.0					11																	63667527		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63667527T>C	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.614T>C	11.37:g.63667527T>C	ENSP00000423974:p.Val205Ala					MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000509502.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A|MARK2_ENST00000413835.2_Missense_Mutation_p.V238A	p.V238A	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			8	1292	+			238			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.713T>C	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	t	29.0	4.966610	0.92855	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.986;0.999;0.994;0.999;0.998	T	0.57266	-0.7841	10	0.87932	D	0	.	14.7005	0.69152	0.0:0.0:0.0:1.0	.	205;205;238;238;238;238	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	A	238;238;238;238;205;238;238;238;238;205;205;205;205	ENSP00000385751:V238A;ENSP00000326632:V238A;ENSP00000367040:V238A;ENSP00000389184:V238A;ENSP00000367041:V205A;ENSP00000425765:V238A;ENSP00000355091:V238A;ENSP00000294247:V238A;ENSP00000423974:V205A;ENSP00000421075:V205A;ENSP00000386128:V205A;ENSP00000415494:V205A	ENSP00000326632:V238A	V	+	2	0	MARK2	63424103	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.865000	0.87049	2.301000	0.77427	0.524000	0.50904	GTT		0.507	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		181	792	0	0	0	1	0	181	792				
ASF1B	55723	broad.mit.edu	37	19	14231410	14231410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14231410A>G	ENST00000263382.3	-	4	969	c.470T>C	c.(469-471)aTg>aCg	p.M157T	PRKACA_ENST00000590853.1_5'Flank|PRKACA_ENST00000308677.4_5'Flank|CTB-55O6.10_ENST00000590715.1_RNA|ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	157					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CAGCCTGTCCATGTTGTTGTC	0.617																																						ENST00000263382.3																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(469-471)aTg>aCg		anti-silencing function 1B histone chaperone							74.0	65.0	68.0					19																	14231410		2203	4300	6503	SO:0001583	missense	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14231410A>G	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.470T>C	19.37:g.14231410A>G	ENSP00000263382:p.Met157Thr					ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	p.M157T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN			4	969	-			157					Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	c.470T>C	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	a	0.383	-0.927845	0.02377	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.8	-3.06	0.05379	.	1.694630	0.02767	N	0.119296	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	9	0.06757	T	0.87	.	4.5182	0.11947	0.4499:0.0:0.3051:0.245	.	157	Q9NVP2	ASF1B_HUMAN	T	157	.	ENSP00000263382:M157T	M	-	2	0	ASF1B	14092410	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	0.439000	0.21575	-0.706000	0.05028	-0.783000	0.03347	ATG		0.617	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154		37	217	0	0	0	1	0	37	217				
YRDC	79693	broad.mit.edu	37	1	38272774	38272774	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38272774G>A	ENST00000373044.2	-	2	507	c.503C>T	c.(502-504)cCt>cTt	p.P168L	C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000446260.2_5'Flank|C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	168	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGACTCACAGGCGTAAAAGG	0.517																																						ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.e2+1		yrdC N(6)-threonylcarbamoyltransferase domain containing							94.0	94.0	94.0					1																	38272774		2203	4300	6503	SO:0001630	splice_region_variant	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272774G>A		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.504+1C>T	1.37:g.38272774G>A						C1orf122_ENST00000373043.1_5'UTR	p.P168_splice	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN			2	507	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	168			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Splice_Site	SNP	ENST00000373044.2	37	c.504_splice	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292376	0.23564	.	.	ENSG00000196449	ENST00000373044	.	.	.	4.96	2.01	0.26516	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.418875	0.26847	N	0.022194	T	0.61022	0.2314	M	0.78285	2.405	0.47698	D	0.999497	B	0.11235	0.004	B	0.19666	0.026	T	0.57335	-0.7829	9	0.54805	T	0.06	.	10.0128	0.41997	0.0724:0.259:0.6685:0.0	.	168	Q86U90	YRDC_HUMAN	L	168	.	ENSP00000362135:P168L	P	-	2	0	YRDC	38045361	0.999000	0.42202	0.991000	0.47740	0.273000	0.26683	3.742000	0.55097	0.134000	0.18681	-0.251000	0.11542	CCT		0.517	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640	Missense_Mutation	51	239	0	0	0	1	0	51	239				
GCM2	9247	broad.mit.edu	37	6	10877453	10877453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877453G>A	ENST00000379491.4	-	2	410	c.263C>T	c.(262-264)aCa>aTa	p.T88I	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	88					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GCAGGCCTGTGTACACACCAC	0.632																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(262-264)aCa>aTa		glial cells missing homolog 2 (Drosophila)							94.0	78.0	84.0					6																	10877453		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10877453G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.263C>T	6.37:g.10877453G>A	ENSP00000368805:p.Thr88Ile					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.T88I	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			2	410	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	88					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.263C>T	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362783	0.41902	.	.	ENSG00000124827	ENST00000379491	T	0.74526	-0.85	5.69	3.91	0.45181	.	0.421727	0.30732	N	0.009000	T	0.40272	0.1110	N	0.19112	0.55	0.46678	D	0.999157	B	0.18013	0.025	B	0.18871	0.023	T	0.41161	-0.9524	10	0.59425	D	0.04	-0.6723	6.5058	0.22194	0.0688:0.1309:0.6643:0.136	.	88	O75603	GCM2_HUMAN	I	88	ENSP00000368805:T88I	ENSP00000368805:T88I	T	-	2	0	GCM2	10985439	0.714000	0.27936	0.033000	0.17914	0.873000	0.50193	4.669000	0.61575	0.754000	0.32968	0.650000	0.86243	ACA		0.632	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			82	344	0	0	0	1	0	82	344				
AP4B1	10717	broad.mit.edu	37	1	114445332	114445332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114445332G>A	ENST00000369569.1	-	2	546	c.266C>T	c.(265-267)aCg>aTg	p.T89M	DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	89					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCACAGCGTATTGATGGC	0.522																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(265-267)aCg>aTg		adaptor-related protein complex 4, beta 1 subunit							136.0	112.0	120.0					1																	114445332		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114445332G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.266C>T	1.37:g.114445332G>A	ENSP00000358582:p.Thr89Met					AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M	p.T89M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	546	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	89					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.266C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983200	0.93044	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369571	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.90198	3.095	0.35726	D	0.817514	D;D	0.89917	1.0;1.0	D;D	0.85130	0.953;0.997	T	0.70439	-0.4871	10	0.72032	D	0.01	-6.4216	18.9713	0.92716	0.0:0.0:1.0:0.0	.	89;89	B7Z4X3;Q9Y6B7	.;AP4B1_HUMAN	M	89	ENSP00000358582:T89M;ENSP00000256658:T89M;ENSP00000358579:T89M;ENSP00000358584:T89M	ENSP00000256658:T89M	T	-	2	0	AP4B1	114246855	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	7.244000	0.78228	2.465000	0.83290	0.655000	0.94253	ACG		0.522	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		31	267	0	0	0	1	0	31	267				
WDR90	197335	broad.mit.edu	37	16	705640	705640	+	Missense_Mutation	SNP	C	C	A	rs368151213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:705640C>A	ENST00000293879.4	+	16	1786	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	WDR90_ENST00000549091.1_Missense_Mutation_p.R596S|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	596										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGGCATGCCCGCCGCCTGCT	0.682																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1786-1788)Cgc>Agc		WD repeat domain 90							17.0	21.0	20.0					16																	705640		2169	4262	6431	SO:0001583	missense	197335							g.chr16:705640C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1786C>A	16.37:g.705640C>A	ENSP00000293879:p.Arg596Ser					LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.R596S	p.R596S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			16	1878	+		Hepatocellular(780;0.0218)	596					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1786C>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541312	0.45280	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.33438	1.44;1.41	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000002	T	0.50582	0.1624	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.70227	0.923;0.919;0.921;0.968	T	0.46005	-0.9222	10	0.23302	T	0.38	.	11.7813	0.52016	0.1755:0.8245:0.0:0.0	.	596;596;597;596	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	S	596	ENSP00000448122:R596S;ENSP00000293879:R596S	ENSP00000293879:R596S	R	+	1	0	WDR90	645641	0.988000	0.35896	0.302000	0.25058	0.141000	0.21300	2.803000	0.47924	2.157000	0.67596	0.561000	0.74099	CGC		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		9	85	1	0	0.00448238	1	0.00451339	9	85				
SCN9A	6335	broad.mit.edu	37	2	167138288	167138288	+	Missense_Mutation	SNP	G	G	A	rs200174262	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167138288G>A	ENST00000409435.1	-	12	2004	c.2005C>T	c.(2005-2007)Cgt>Tgt	p.R669C	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R670C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R670C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	669					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAACTACAACGCCTTTTCTTG	0.358													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17153	0.0		0.0	False		,,,				2504	0.0					ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2008-2010)Cgt>Tgt		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)	G	CYS/ARG	5,3729		0,5,1862	162.0	155.0	157.0		1972	2.7	0.8	2		157	0,8228		0,0,4114	no	missense	SCN9A	NM_002977.3	180	0,5,5976	AA,AG,GG		0.0,0.1339,0.0418	possibly-damaging	658/1978	167138288	5,11957	1867	4114	5981	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167138288G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2005C>T	2.37:g.167138288G>A	ENSP00000386330:p.Arg669Cys					SCN9A_ENST00000303354.6_Missense_Mutation_p.R670C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R669C	p.R670C			Q15858	SCN9A_HUMAN			13	2348	-			669					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.2008C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060097	0.19987	0.001339	0.0	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96522	-2.86;-2.86;-2.86;-2.86;-4.04;-2.86	5.71	2.73	0.32206	Domain of unknown function DUF3451 (1);	0.310145	0.27744	N	0.018033	D	0.95037	0.8393	M	0.85710	2.77	0.43417	D	0.995564	B;B;B	0.15719	0.006;0.014;0.001	B;B;B	0.19666	0.016;0.026;0.011	D	0.92168	0.5741	10	0.62326	D	0.03	.	5.7959	0.18387	0.0675:0.1193:0.5719:0.2413	.	658;669;670	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	C	658;670;670;669;523;534	ENSP00000386306:R658C;ENSP00000364536:R670C;ENSP00000304748:R670C;ENSP00000386330:R669C;ENSP00000413212:R523C;ENSP00000393141:R534C	ENSP00000304748:R670C	R	-	1	0	SCN9A	166846534	0.000000	0.05858	0.797000	0.32132	0.058000	0.15608	0.210000	0.17455	0.854000	0.35336	0.650000	0.86243	CGT		0.358	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		28	375	0	0	0	1	0	28	375				
CCDC158	339965	broad.mit.edu	37	4	77234349	77234349	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77234349C>A	ENST00000388914.3	-	24	3468	c.3316G>T	c.(3316-3318)Gac>Tac	p.D1106Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1106								p.D1106N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTCCTGGTCTTTTACTTTC	0.338																																						ENST00000388914.3																			1	Substitution - Missense(1)	p.D1106N(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(3316-3318)Gac>Tac		coiled-coil domain containing 158							193.0	169.0	176.0					4																	77234349		1814	4076	5890	SO:0001583	missense	339965							g.chr4:77234349C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3316G>T	4.37:g.77234349C>A	ENSP00000373566:p.Asp1106Tyr						p.D1106Y	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			24	3468	-			1106					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.3316G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627052	0.66901	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.38401	1.14	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000060	T	0.43122	0.1233	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11767	-1.0574	10	0.14252	T	0.57	.	12.5383	0.56154	0.0:0.9215:0.0:0.0785	.	1106	Q5M9N0	CD158_HUMAN	Y	1106;526	ENSP00000373566:D1106Y	ENSP00000316815:D526Y	D	-	1	0	CCDC158	77453373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.425000	0.44723	2.753000	0.94483	0.557000	0.71058	GAC		0.338	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		7	128	1	0	0.00198382	1	0.00200138	7	128				
RMDN1	51115	broad.mit.edu	37	8	87487169	87487169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87487169G>T	ENST00000406452.3	-	9	933	c.774C>A	c.(772-774)ttC>ttA	p.F258L	RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.F228L|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	258						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TTTTGCTGTAGAAGTTTGGAT	0.348																																						ENST00000406452.3																			0											c.(772-774)ttC>ttA		regulator of microtubule dynamics 1							128.0	120.0	123.0					8																	87487169		2203	4300	6503	SO:0001583	missense	51115							g.chr8:87487169G>T	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.774C>A	8.37:g.87487169G>T	ENSP00000385927:p.Phe258Leu					RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.F228L|RMDN1_ENST00000519966.1_Intron	p.F258L	NM_016033.2	NP_057117.2					9	933	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	c.774C>A	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.125243|4.125243	0.77436|0.77436	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000406452;ENST00000430676|ENST00000517710;ENST00000519639;ENST00000522942	T;T|.	0.54279|.	0.58;0.58|.	5.49|5.49	3.31|3.31	0.37934|0.37934	Tetratricopeptide-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74359|0.74359	0.3706|0.3706	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.959|.	D;P|.	0.91635|.	0.999;0.816|.	T|T	0.76189|0.76189	-0.3050|-0.3050	10|5	0.30854|.	T|.	0.27|.	-13.0414|-13.0414	9.3135|9.3135	0.37919|0.37919	0.2623:0.0:0.7377:0.0|0.2623:0.0:0.7377:0.0	.|.	228;258|.	B4DZW6;Q96DB5|.	.;RMD1_HUMAN|.	L|Y	258;228|45;104;64	ENSP00000385927:F258L;ENSP00000409661:F228L|.	ENSP00000385927:F258L|.	F|S	-|-	3|2	2|0	FAM82B|FAM82B	87556285|87556285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.682000|2.682000	0.46934|0.46934	1.442000|1.442000	0.47568|0.47568	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.348	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		27	322	1	0	2.61193e-14	1	2.83483e-14	27	322				
NEO1	4756	broad.mit.edu	37	15	73542036	73542036	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73542036A>G	ENST00000339362.5	+	12	2315	c.1868A>G	c.(1867-1869)gAt>gGt	p.D623G	NEO1_ENST00000560262.1_Missense_Mutation_p.D623G|NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000558964.1_Missense_Mutation_p.D623G			Q92859	NEO1_HUMAN	neogenin 1	623	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCCACACCAGATGTTGCTGTT	0.423																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1867-1869)gAt>gGt		neogenin 1							189.0	171.0	177.0					15																	73542036		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73542036A>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1868A>G	15.37:g.73542036A>G	ENSP00000341198:p.Asp623Gly					NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000558964.1_Missense_Mutation_p.D623G|NEO1_ENST00000560262.1_Missense_Mutation_p.D623G	p.D623G			Q92859	NEO1_HUMAN			12	2315	+			623			Fibronectin type-III 2.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1868A>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962056	0.92791	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.53206	0.63;0.63	5.79	5.79	0.91817	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.60455	1.87	0.80722	D	1	D;P;P;P	0.63046	0.992;0.48;0.801;0.953	D;P;P;P	0.71870	0.975;0.75;0.806;0.886	T	0.64542	-0.6383	10	0.46703	T	0.11	-22.4207	15.803	0.78471	1.0:0.0:0.0:0.0	.	623;623;361;623	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	G	623;361;623	ENSP00000341198:D623G;ENSP00000261908:D623G	ENSP00000261908:D623G	D	+	2	0	NEO1	71329089	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.204000	0.95041	2.198000	0.70561	0.533000	0.62120	GAT		0.423	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		16	492	0	0	0	1	0	16	492				
KLHDC4	54758	broad.mit.edu	37	16	87764186	87764186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764186G>T	ENST00000270583.5	-	6	629	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	191										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCACCAAACAGGATCAATTGT	0.438																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(571-573)Ctg>Atg		kelch domain containing 4							148.0	127.0	134.0					16																	87764186		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87764186G>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.571C>A	16.37:g.87764186G>T	ENSP00000270583:p.Leu191Met					KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M	p.L191M	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	6	629	-			191					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.571C>A	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528879	0.64860	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000353170	T;T	0.69040	-0.37;-0.37	4.92	1.22	0.21188	Kelch-type beta propeller (1);	0.291280	0.32593	N	0.005883	T	0.65217	0.2670	L	0.31476	0.935	0.31859	N	0.621278	D;D;B	0.64830	0.994;0.991;0.397	D;P;B	0.65987	0.94;0.894;0.206	T	0.66110	-0.6005	10	0.45353	T	0.12	-21.5663	7.3044	0.26438	0.0:0.3857:0.3034:0.311	.	10;134;191	Q9UF94;Q8TBB5-2;Q8TBB5	.;.;KLDC4_HUMAN	M	191;10;134	ENSP00000270583:L191M;ENSP00000262530:L134M	ENSP00000270583:L191M	L	-	1	2	KLHDC4	86321687	0.043000	0.20138	0.538000	0.28064	0.827000	0.46813	-0.176000	0.09811	1.010000	0.39314	0.655000	0.94253	CTG		0.438	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		133	470	1	0	4.54241e-80	1	5.80792e-80	133	470				
ZDHHC6	64429	broad.mit.edu	37	10	114190566	114190566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114190566C>T	ENST00000369405.3	-	11	1661	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K|ZDHHC6_ENST00000482410.1_Intron	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	413					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CAGCAGCTATCTATTTTTCTT	0.373																																						ENST00000369405.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1237-1239)aGa>aAa		zinc finger, DHHC-type containing 6							86.0	84.0	84.0					10																	114190566		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114190566C>T	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.1238G>A	10.37:g.114190566C>T	ENSP00000358413:p.Arg413Lys					ZDHHC6_ENST00000482410.1_Intron|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K	p.R413K	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	11	1661	-		Colorectal(252;0.198)	413					D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.1238G>A	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260108	0.39995	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.64803	0.62;-0.12	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39633	1.23	0.40040	D	0.975638	B;B	0.06786	0.001;0.0	B;B	0.08055	0.001;0.003	T	0.46843	-0.9162	10	0.27785	T	0.31	-1.2885	15.0839	0.72135	0.0:0.93:0.0:0.07	.	409;413	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	K	413;409	ENSP00000358413:R413K;ENSP00000358412:R409K	ENSP00000358412:R409K	R	-	2	0	ZDHHC6	114180556	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	3.275000	0.51639	2.785000	0.95823	0.650000	0.86243	AGA		0.373	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		48	284	0	0	0	1	0	48	284				
MED26	9441	broad.mit.edu	37	19	16687637	16687637	+	Missense_Mutation	SNP	G	G	A	rs200735730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16687637G>A	ENST00000263390.3	-	3	1266	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A343V|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	335					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGGCTTTCCGCACTGGGCAG	0.721																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1003-1005)gCg>gTg		mediator complex subunit 26							8.0	10.0	9.0					19																	16687637		2137	4180	6317	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687637G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1004C>T	19.37:g.16687637G>A	ENSP00000263390:p.Ala335Val					CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A343V	p.A335V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1266	-			335					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1004C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105413	0.01828	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.71	2.07	0.26955	.	0.970172	0.08544	N	0.929988	T	0.28995	0.0720	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.22173	-1.0224	9	0.42905	T	0.14	-1.9742	9.9712	0.41754	0.0912:0.1435:0.7654:0.0	.	335	O95402	MED26_HUMAN	V	335	.	ENSP00000263390:A335V	A	-	2	0	MED26	16548637	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	1.407000	0.34657	0.944000	0.37579	0.478000	0.44815	GCG		0.721	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		38	113	0	0	0	1	0	38	113				
HOXA2	3199	broad.mit.edu	37	7	27140427	27140427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27140427C>T	ENST00000222718.5	-	2	1359	c.1049G>A	c.(1048-1050)aGt>aAt	p.S350N	HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	350					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ATCTACGGGACTGTCGAGGGA	0.448																																						ENST00000222718.5																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						c.(1048-1050)aGt>aAt		homeobox A2							86.0	85.0	86.0					7																	27140427		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27140427C>T		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1049G>A	7.37:g.27140427C>T	ENSP00000222718:p.Ser350Asn						p.S350N	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN			2	1359	-			350					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.1049G>A	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209575	0.79240	.	.	ENSG00000105996	ENST00000222718	T	0.11169	2.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.86651	2.83	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.47623	-0.9103	10	0.87932	D	0	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	350	O43364	HXA2_HUMAN	N	350	ENSP00000222718:S350N	ENSP00000222718:S350N	S	-	2	0	HOXA2	27106952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.629000	0.67798	2.492000	0.84095	0.655000	0.94253	AGT		0.448	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			111	519	0	0	0	1	0	111	519				
BSN	8927	broad.mit.edu	37	3	49693296	49693296	+	Missense_Mutation	SNP	G	G	A	rs374754262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49693296G>A	ENST00000296452.4	+	5	6421	c.6307G>A	c.(6307-6309)Gct>Act	p.A2103T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2103					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)		TCGCATGTGCGCTGCCCTCAA	0.652																																						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.(6307-6309)Gct>Act		bassoon presynaptic cytomatrix protein							65.0	65.0	65.0					3																	49693296		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693296G>A	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.6307G>A	3.37:g.49693296G>A	ENSP00000296452:p.Ala2103Thr						p.A2103T	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)	5	6421	+			2103					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6307G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031034	0.54790	.	.	ENSG00000164061	ENST00000296452	T	0.33865	1.39	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.59500	-0.7443	10	0.52906	T	0.07	-8.7787	19.3268	0.94265	0.0:0.0:1.0:0.0	.	2103	Q9UPA5	BSN_HUMAN	T	2103	ENSP00000296452:A2103T	ENSP00000296452:A2103T	A	+	1	0	BSN	49668300	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.855000	0.86950	2.561000	0.86390	0.650000	0.86243	GCT		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		17	379	0	0	0	1	0	17	379				
DHX32	55760	broad.mit.edu	37	10	127542554	127542554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127542554G>A	ENST00000284690.3	-	4	1558	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	356						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CACCCACATCGATAACAAATC	0.378																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1066-1068)atC>atT		DEAH (Asp-Glu-Ala-His) box polypeptide 32							130.0	128.0	129.0					10																	127542554		2203	4300	6503	SO:0001819	synonymous_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127542554G>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1068C>T	10.37:g.127542554G>A						DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	p.I356I	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			4	1558	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	356					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	c.1068C>T	CCDS7652.1																																																																																				0.378	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		90	414	0	0	0	1	0	90	414				
FAM76B	143684	broad.mit.edu	37	11	95519306	95519306	+	Missense_Mutation	SNP	G	G	A	rs374764840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95519306G>A	ENST00000358780.5	-	4	652	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W|FAM76B_ENST00000538047.1_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	114						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTCCTTCCGATCAAAAGCA	0.353																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(340-342)Cgg>Tgg		family with sequence similarity 76, member B		G	TRP/ARG	0,4118		0,0,2059	148.0	144.0	145.0		340	6.0	1.0	11		145	1,8471		0,1,4235	no	missense	FAM76B	NM_144664.4	101	0,1,6294	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	114/340	95519306	1,12589	2059	4236	6295	SO:0001583	missense	143684							g.chr11:95519306G>A		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.340C>T	11.37:g.95519306G>A	ENSP00000351631:p.Arg114Trp					FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W	p.R114W	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			4	652	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	114					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.340C>T	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026245	0.93518	0.0	1.18E-4	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85294	0.1069	9	0.87932	D	0	-4.671	20.4008	0.98991	0.0:0.0:1.0:0.0	.	114	Q5HYJ3	FA76B_HUMAN	W	114	.	ENSP00000351631:R114W	R	-	1	2	FAM76B	95158954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.305000	0.72805	2.826000	0.97356	0.655000	0.94253	CGG		0.353	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		104	577	0	0	0	1	0	104	577				
PRKAR1A	5573	broad.mit.edu	37	17	66520194	66520194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66520194G>A	ENST00000589228.1	+	5	606	c.478G>A	c.(478-480)Gca>Aca	p.A160T	PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	160					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTCCTTTATCGCAGGAGAGAC	0.418			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(478-480)Gca>Aca		protein kinase, cAMP-dependent, regulatory, type I, alpha							142.0	137.0	139.0					17																	66520194		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66520194G>A		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.478G>A	17.37:g.66520194G>A	ENSP00000464977:p.Ala160Thr					PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T	p.A160T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			5	606	+	Breast(10;1.64e-13)		160					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.478G>A	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619415	0.66787	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.93604	-3.25;-3.25;-3.25	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.093232	0.64402	D	0.000001	D	0.93442	0.7908	M	0.69823	2.125	0.80722	D	1	P;P	0.36647	0.563;0.563	B;B	0.38296	0.27;0.27	D	0.91781	0.5435	10	0.37606	T	0.19	-26.6197	20.2751	0.98485	0.0:0.0:1.0:0.0	.	160;160	B2R5T5;P10644	.;KAP0_HUMAN	T	160	ENSP00000351410:A160T;ENSP00000376475:A160T;ENSP00000445625:A160T	ENSP00000351410:A160T	A	+	1	0	PRKAR1A	64031789	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	GCA		0.418	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			81	488	0	0	0	1	0	81	488				
KANK4	163782	broad.mit.edu	37	1	62739298	62739298	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62739298C>A	ENST00000371153.4	-	3	1856	c.1478G>T	c.(1477-1479)aGc>aTc	p.S493I	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	493						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGAGAGGAAGCTATGTACAGA	0.577																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1477-1479)aGc>aTc		KN motif and ankyrin repeat domains 4							96.0	97.0	97.0					1																	62739298		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739298C>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1478G>T	1.37:g.62739298C>A	ENSP00000360195:p.Ser493Ile					KANK4_ENST00000354381.3_Intron	p.S493I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1856	-			493					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1478G>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305397	0.60305	.	.	ENSG00000132854	ENST00000371153	T	0.50277	0.75	4.63	4.63	0.57726	.	0.000000	0.45126	D	0.000394	T	0.64193	0.2576	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.65985	-0.6035	10	0.62326	D	0.03	-21.4958	13.195	0.59732	0.0:1.0:0.0:0.0	.	493	Q5T7N3	KANK4_HUMAN	I	493	ENSP00000360195:S493I	ENSP00000360195:S493I	S	-	2	0	KANK4	62511886	0.999000	0.42202	0.996000	0.52242	0.365000	0.29674	2.290000	0.43531	2.563000	0.86464	0.655000	0.94253	AGC		0.577	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		122	425	1	0	7.79638e-53	1	9.70434e-53	122	425				
KIAA1324	57535	broad.mit.edu	37	1	109714519	109714519	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109714519G>A	ENST00000369939.3	+	4	682	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	167					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGACTACATCGCCTCCAACAC	0.557																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(499-501)Gcc>Acc		KIAA1324							101.0	81.0	88.0					1																	109714519		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109714519G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.499G>A	1.37:g.109714519G>A	ENSP00000358955:p.Ala167Thr					KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	p.A167T	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	4	682	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	167					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.499G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	4.897	0.166757	0.09339	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.44083	1.56;0.93;0.93;0.93	5.99	1.81	0.25067	.	0.348105	0.32533	N	0.005968	T	0.14270	0.0345	L	0.40543	1.245	0.23751	N	0.996942	B;B;B;B	0.20671	0.018;0.047;0.011;0.011	B;B;B;B	0.17433	0.006;0.018;0.009;0.009	T	0.30208	-0.9986	10	0.19147	T	0.46	-15.5327	14.3279	0.66532	0.0659:0.0:0.8093:0.1248	.	167;167;167;167	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	167	ENSP00000431349:A167T;ENSP00000358955:A167T;ENSP00000393964:A167T;ENSP00000434595:A167T	ENSP00000358955:A167T	A	+	1	0	KIAA1324	109516042	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	2.737000	0.47393	0.051000	0.15978	-0.127000	0.14921	GCC		0.557	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		27	272	0	0	0	1	0	27	272				
C1S	716	broad.mit.edu	37	12	7177355	7177355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177355C>T	ENST00000406697.1	+	15	2095	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	C1S_ENST00000402681.3_Silent_p.S322S|C1S_ENST00000328916.3_Silent_p.S489S|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	489	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATGTTGGGTCCACCTCAGTGC	0.537																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1465-1467)tcC>tcT		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						57.0	50.0	52.0					12																	7177355		2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177355C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1467C>T	12.37:g.7177355C>T						C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000328916.3_Silent_p.S489S|C1S_ENST00000402681.3_Silent_p.S322S	p.S489S			P09871	C1S_HUMAN			15	2095	+			489			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.1467C>T	CCDS31735.1																																																																																				0.537	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		26	142	0	0	0	1	0	26	142				
AKAP7	9465	broad.mit.edu	37	6	131486247	131486247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131486247G>T	ENST00000431975.2	+	4	416	c.318G>T	c.(316-318)caG>caT	p.Q106H	AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	106						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGATCCTGCAGAATGCAATAA	0.323																																						ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(316-318)caG>caT		A kinase (PRKA) anchor protein 7							82.0	81.0	82.0					6																	131486247		2203	4300	6503	SO:0001583	missense	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131486247G>T	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.318G>T	6.37:g.131486247G>T	ENSP00000405252:p.Gln106His					AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H|AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|AKAP7_ENST00000366358.2_3'UTR	p.Q106H	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	4	416	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.318G>T	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398757	0.42512	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.70045	-0.45;-0.45;-0.45	5.8	0.68	0.17980	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	M	0.80746	2.51	0.36895	D	0.890105	D	0.76494	0.999	D	0.77004	0.989	T	0.72616	-0.4239	10	0.66056	D	0.02	-9.2246	8.3215	0.32132	0.6761:0.0:0.3239:0.0	.	106	Q9P0M2	AKA7G_HUMAN	H	106;105;84	ENSP00000405252:Q106H;ENSP00000441048:Q105H;ENSP00000357105:Q84H	ENSP00000357105:Q84H	Q	+	3	2	AKAP7	131527940	0.997000	0.39634	0.641000	0.29422	0.742000	0.42306	0.436000	0.21526	0.125000	0.18397	-0.295000	0.09555	CAG		0.323	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		29	146	1	0	5.60225e-13	1	6.03507e-13	29	146				
TPP2	7174	broad.mit.edu	37	13	103249462	103249462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103249462C>A	ENST00000376065.4	+	1	110	c.74C>A	c.(73-75)tCc>tAc	p.S25Y	TPP2_ENST00000376052.3_Missense_Mutation_p.S25Y	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	25					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGCCGCCTCCTTCCTCTGC	0.682																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(73-75)tCc>tAc		tripeptidyl peptidase II							13.0	16.0	15.0					13																	103249462		2167	4244	6411	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103249462C>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.74C>A	13.37:g.103249462C>A	ENSP00000365233:p.Ser25Tyr					TPP2_ENST00000376065.4_Missense_Mutation_p.S25Y	p.S25Y			P29144	TPP2_HUMAN			1	90	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		25					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.74C>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839087	0.71373	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.45276	0.9;0.9	5.37	4.53	0.55603	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.349320	0.30501	N	0.009485	T	0.33876	0.0878	L	0.48642	1.525	0.49299	D	0.999778	P	0.39576	0.679	B	0.35413	0.202	T	0.20174	-1.0283	10	0.66056	D	0.02	.	9.7119	0.40251	0.0:0.7857:0.1404:0.0739	.	25	P29144	TPP2_HUMAN	Y	25	ENSP00000365233:S25Y;ENSP00000365220:S25Y	ENSP00000365220:S25Y	S	+	2	0	TPP2	102047463	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.876000	0.63079	1.261000	0.44149	0.650000	0.86243	TCC		0.682	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			27	103	1	0	9.80776e-20	1	1.0954e-19	27	103				
TOE1	114034	broad.mit.edu	37	1	45806997	45806997	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45806997G>T	ENST00000372090.5	+	3	801	c.218G>T	c.(217-219)aGg>aTg	p.R73M	MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000488731.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	73						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CTTGGGGACAGGAAGAGTTTG	0.557																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(217-219)aGg>aTg		target of EGR1, member 1 (nuclear)							83.0	84.0	83.0					1																	45806997		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45806997G>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.218G>T	1.37:g.45806997G>T	ENSP00000361162:p.Arg73Met					TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H|TOE1_ENST00000495703.1_3'UTR	p.R73M	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			3	801	+	Acute lymphoblastic leukemia(166;0.155)		73					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.218G>T	CCDS521.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.070978|5.070978	0.93950|0.93950	.|.	.|.	ENSG00000132773|ENSG00000132773	ENST00000539779|ENST00000372090	T|T	0.30448|0.24723	1.53|1.84	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Ribonuclease H-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.81682|0.81682	2.555|2.555	0.38079|0.38079	D|D	0.936615|0.936615	P|D;D	0.50819|0.89917	0.939|1.0;1.0	P|D;D	0.57548|0.97110	0.823|1.0;0.998	T|T	0.62338|0.62338	-0.6875|-0.6875	9|10	0.87932|0.72032	D|D	0|0.01	-20.7764|-20.7764	19.5968|19.5968	0.95544|0.95544	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25|79;73	B4DEM6|B4DP23;Q96GM8	.|.;TOE1_HUMAN	H|M	25|73	ENSP00000438900:Q25H|ENSP00000361162:R73M	ENSP00000438900:Q25H|ENSP00000361162:R73M	Q|R	+|+	3|2	2|0	TOE1|TOE1	45579584|45579584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	8.669000|8.669000	0.91163|0.91163	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.557	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		61	281	1	0	6.75472e-32	1	7.9656e-32	61	281				
NFIC	4782	broad.mit.edu	37	19	3381920	3381920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3381920C>T	ENST00000443272.2	+	2	292	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIC_ENST00000341919.3_Missense_Mutation_p.R81C|NFIC_ENST00000589123.1_Missense_Mutation_p.R72C|NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000395111.3_Missense_Mutation_p.R72C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	81					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGCCAAGCTGCGCAAGGACAT	0.672																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(214-216)Cgc>Tgc		nuclear factor I/C (CCAAT-binding transcription factor)							80.0	87.0	85.0					19																	3381920		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3381920C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.241C>T	19.37:g.3381920C>T	ENSP00000396843:p.Arg81Cys					NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000443272.2_Missense_Mutation_p.R81C|NFIC_ENST00000341919.3_Missense_Mutation_p.R81C|NFIC_ENST00000395111.3_Missense_Mutation_p.R72C	p.R72C	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	334	+		Hepatocellular(1079;0.137)	81					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.214C>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363580	0.61513	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.78246	-1.16;-1.16;-1.16	3.88	1.71	0.24356	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.997;0.997	T	0.82851	-0.0253	10	0.87932	D	0	.	8.8194	0.35016	0.0:0.8083:0.0:0.1917	.	81;81;72;81;72	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	C	72;72;72;81;81;81	ENSP00000378543:R72C;ENSP00000301935:R72C;ENSP00000342194:R81C	ENSP00000269778:R81C	R	+	1	0	NFIC	3332920	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.438000	0.44837	0.251000	0.21505	-0.373000	0.07131	CGC		0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		170	667	0	0	0	1	0	170	667				
SLC17A8	246213	broad.mit.edu	37	12	100806634	100806634	+	Nonsense_Mutation	SNP	G	G	T	rs144447013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100806634G>T	ENST00000323346.5	+	10	1586	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	425					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACTTGCTGTAGGATTTAGTGG	0.453																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1273-1275)Gga>Tga		solute carrier family 17 (vesicular glutamate transporter), member 8							298.0	266.0	277.0					12																	100806634		2203	4300	6503	SO:0001587	stop_gained	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100806634G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1273G>T	12.37:g.100806634G>T	ENSP00000316909:p.Gly425*					SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	p.G425*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			10	1586	+			425					B3KXZ6|B7ZKV4|Q17RQ8	Nonsense_Mutation	SNP	ENST00000323346.5	37	c.1273G>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	38	7.280373	0.98182	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	.	.	.	X	425;375	.	ENSP00000316909:G425X	G	+	1	0	SLC17A8	99330765	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.835000	0.99442	2.752000	0.94435	0.655000	0.94253	GGA		0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		91	522	1	0	1.43847e-43	1	1.75646e-43	91	522				
B3GNT6	192134	broad.mit.edu	37	11	76751323	76751323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76751323G>A	ENST00000533140.1	+	2	866	c.728G>A	c.(727-729)cGc>cAc	p.R243H	B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H|B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCACCCGGCCGCCACCTGTTC	0.692																																						ENST00000533140.1																			0				central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						c.(727-729)cGc>cAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)							11.0	15.0	14.0					11																	76751323		2165	4252	6417	SO:0001583	missense	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76751323G>A	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.728G>A	11.37:g.76751323G>A	ENSP00000435352:p.Arg243His					B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H|B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H	p.R243H			Q6ZMB0	B3GN6_HUMAN			2	866	+			243					Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	37	c.728G>A	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	g	2.734	-0.263716	0.05754	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.40756	1.02;1.02;1.02	2.71	0.741	0.18336	.	1.469590	0.04406	N	0.365184	T	0.30665	0.0772	L	0.31120	0.905	0.09310	N	1	B	0.14805	0.011	B	0.16722	0.016	T	0.18493	-1.0335	10	0.28530	T	0.3	.	5.4637	0.16632	0.3984:0.0:0.6016:0.0	.	243	Q6ZMB0	B3GN6_HUMAN	H	243;243;154	ENSP00000435352:R243H;ENSP00000346256:R243H;ENSP00000403463:R154H	ENSP00000346256:R243H	R	+	2	0	B3GNT6	76428971	0.000000	0.05858	0.203000	0.23512	0.015000	0.08874	0.311000	0.19380	0.190000	0.20209	-0.355000	0.07637	CGC		0.692	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		20	67	0	0	0	1	0	20	67				
AQP7	364	broad.mit.edu	37	9	33385652	33385652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385652G>A	ENST00000541274.1	-	5	792	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000539936.1_Silent_p.V246V			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.V246V(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGTACCTGAAGACCTGTTTGC	0.607																																						ENST00000541274.1																			1	Substitution - coding silent(1)	p.V246V(1)	lung(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(343-345)Ctt>Ttt		aquaporin 7							62.0	69.0	67.0					9																	33385652		2203	4299	6502	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385652G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.343C>T	9.37:g.33385652G>A	ENSP00000438860:p.Leu115Phe					AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000539936.1_Silent_p.V246V	p.L115F			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	792	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.343C>T		.	.	.	.	.	.	.	.	.	.	g	5.491	0.275672	0.10403	.	.	ENSG00000165269	ENST00000541274	T	0.57273	0.41	5.04	-0.0464	0.13847	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.16571	-1.0398	8	0.87932	D	0	-25.9005	3.6599	0.08234	0.1728:0.4699:0.2451:0.1121	.	115	B7Z7F6	.	F	115	ENSP00000438860:L115F	ENSP00000438860:L115F	L	-	1	0	AQP7	33375652	0.004000	0.15560	0.966000	0.40874	0.292000	0.27327	-1.343000	0.02642	-0.168000	0.10853	-0.232000	0.12228	CTT		0.607	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		92	513	0	0	0	1	0	92	513				
SIK1	150094	broad.mit.edu	37	21	44839359	44839359	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44839359C>A	ENST00000270162.6	-	10	1252		c.e10-1			NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1						cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CCTGAGGCACCTGGGGCCGGC	0.627																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.e10-1		salt-inducible kinase 1							41.0	45.0	44.0					21																	44839359		2202	4300	6502	SO:0001630	splice_region_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44839359C>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1120-1G>T	21.37:g.44839359C>A								NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			10	1252	-								A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Splice_Site	SNP	ENST00000270162.6	37		CCDS33575.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236820	0.39498	.	.	ENSG00000142178	ENST00000270162	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.805	0.78491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIK1	43663787	1.000000	0.71417	0.738000	0.30950	0.167000	0.22549	4.725000	0.61979	2.400000	0.81607	0.561000	0.74099	.		0.627	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354	Intron	49	220	1	0	1.32667e-27	1	1.53764e-27	49	220				
MAPK15	225689	broad.mit.edu	37	8	144801568	144801568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144801568C>T	ENST00000338033.4	+	7	756	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W|MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGATGCTGCGGGGGAGACC	0.647																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(637-639)Cgg>Tgg		mitogen-activated protein kinase 15							47.0	48.0	48.0					8																	144801568		2203	4300	6503	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144801568C>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.637C>T	8.37:g.144801568C>T	ENSP00000337691:p.Arg213Trp					MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W|MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W	p.R213W	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	756	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		213			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.637C>T	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	18.25	3.583449	0.65992	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.43688	0.94;0.94;0.94	4.14	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.233835	0.36134	N	0.002761	T	0.57184	0.2036	L	0.59436	1.845	0.32909	D	0.514219	D	0.89917	1.0	D	0.74348	0.983	T	0.67440	-0.5670	10	0.56958	D	0.05	-14.6158	13.9176	0.63908	0.0:0.561:0.439:0.0	.	213	Q8TD08	MK15_HUMAN	W	213;230;213	ENSP00000337691:R213W;ENSP00000378539:R230W;ENSP00000378540:R213W	ENSP00000337691:R213W	R	+	1	2	MAPK15	144873556	0.112000	0.22096	0.564000	0.28396	0.677000	0.39632	1.434000	0.34958	0.008000	0.14787	0.491000	0.48974	CGG		0.647	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		39	208	0	0	0	1	0	39	208				
SLC22A15	55356	broad.mit.edu	37	1	116577810	116577810	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116577810T>G	ENST00000369503.4	+	7	1077	c.947T>G	c.(946-948)tTt>tGt	p.F316C	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	316					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATTGCAGGTTTGTGTGCAGC	0.443																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(946-948)tTt>tGt		solute carrier family 22, member 15							183.0	172.0	175.0					1																	116577810		1936	4154	6090	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116577810T>G	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.947T>G	1.37:g.116577810T>G	ENSP00000358515:p.Phe316Cys					SLC22A15_ENST00000481127.1_3'UTR	p.F316C	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	7	1077	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	316					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.947T>G	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729028	0.69074	.	.	ENSG00000163393	ENST00000369503	T	0.63580	-0.05	5.76	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054834	0.85682	D	0.000000	T	0.57577	0.2063	M	0.81179	2.53	0.80722	D	1	P	0.35894	0.526	B	0.40982	0.345	T	0.67722	-0.5597	10	0.72032	D	0.01	.	11.8102	0.52179	0.1313:0.0:0.0:0.8687	.	316	Q8IZD6	S22AF_HUMAN	C	316	ENSP00000358515:F316C	ENSP00000358515:F316C	F	+	2	0	SLC22A15	116379333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.529000	0.60588	2.198000	0.70561	0.528000	0.53228	TTT		0.443	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		79	312	0	0	0	1	0	79	312				
PLXNA3	55558	broad.mit.edu	37	X	153695925	153695925	+	Missense_Mutation	SNP	G	G	A	rs375560348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153695925G>A	ENST00000369682.3	+	20	3654	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1160	IPT/TIG 4.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCAGCTCCCGCCTCAACTAC	0.657																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3478-3480)cGc>cAc		plexin A3		G	HIS/ARG	0,3806		0,0,0,1625,556	20.0	17.0	18.0		3479	5.4	1.0	X		18	1,6707		0,0,1,2426,1855	no	missense	PLXNA3	NM_017514.3	29	0,0,1,4051,2411	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging	1160/1872	153695925	1,10513	2181	4282	6463	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695925G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3479G>A	X.37:g.153695925G>A	ENSP00000358696:p.Arg1160His						p.R1160H	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			20	3654	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1160			IPT/TIG 4.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3479G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925410	0.73213	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.76968	-1.06	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.80616	2.505	0.53005	D	0.999965	D	0.89917	1.0	D	0.70016	0.967	D	0.88123	0.2833	10	0.87932	D	0	.	10.7533	0.46221	0.0914:0.0:0.9086:0.0	.	1160	P51805	PLXA3_HUMAN	H	1160	ENSP00000358696:R1160H	ENSP00000358696:R1160H	R	+	2	0	PLXNA3	153349119	0.992000	0.36948	1.000000	0.80357	0.735000	0.41995	4.693000	0.61753	2.385000	0.81259	0.529000	0.55759	CGC		0.657	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		12	47	0	0	0	1	0	12	47				
KRT5	3852	broad.mit.edu	37	12	52908948	52908948	+	Silent	SNP	G	G	A	rs368027956|rs577328983	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52908948G>A	ENST00000252242.4	-	9	1941	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	517	Tail.		G -> D (in K-EBS). {ECO:0000269|PubMed:16882168}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		cgaggccgccgccaagacctc	0.632													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13264	0.0		0.0	False		,,,				2504	0.0					ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(1549-1551)ggC>ggT		keratin 5				3,4403	6.2+/-15.9	0,3,2200	36.0	34.0	34.0		1551	-11.1	0.0	12		34	0,8600		0,0,4300	no	coding-synonymous	KRT5	NM_000424.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		517/591	52908948	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52908948G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1551C>T	12.37:g.52908948G>A							p.G517G	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1941	-			517		G -> D (in K-EBS).	Tail.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.1551C>T	CCDS8830.1																																																																																				0.632	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			34	162	0	0	0	1	0	34	162				
DPM2	8818	broad.mit.edu	37	9	130698902	130698902	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130698902C>T	ENST00000314392.8	-	3	789	c.126G>A	c.(124-126)aaG>aaA	p.K42K	RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|DPM2_ENST00000373110.4_Silent_p.K42K|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	42					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						GCAGGAAATACTTGTGGATGA	0.587																																						ENST00000314392.8																			0				lung(1)	1						c.(124-126)aaG>aaA		dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit							194.0	141.0	159.0					9																	130698902		2203	4300	6503	SO:0001819	synonymous_variant	8818				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane	protein binding	g.chr9:130698902C>T	AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.126G>A	9.37:g.130698902C>T						RP11-203J24.8_ENST00000592240.1_RNA|DPM2_ENST00000373110.4_Silent_p.K42K	p.K42K	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN			3	789	-			42					Q5XKK9|Q6FGH3	Silent	SNP	ENST00000314392.8	37	c.126G>A	CCDS6886.1																																																																																				0.587	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054324.1	NM_003863		9	414	0	0	0	1	0	9	414				
WDHD1	11169	broad.mit.edu	37	14	55462511	55462511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55462511C>A	ENST00000360586.3	-	11	1028	c.963G>T	c.(961-963)aaG>aaT	p.K321N	WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N|WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	321					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATTATAATCCTTTTCCACTC	0.274																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(961-963)aaG>aaT		WD repeat and HMG-box DNA binding protein 1							61.0	58.0	59.0					14																	55462511		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55462511C>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.963G>T	14.37:g.55462511C>A	ENSP00000353793:p.Lys321Asn					WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N|WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N	p.K321N	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			11	1028	-			321					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.963G>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724696	0.30593	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	T;T	0.64803	0.26;-0.12	4.99	1.88	0.25563	.	0.204668	0.49916	N	0.000137	T	0.46444	0.1393	L	0.49350	1.555	0.80722	D	1	B	0.16802	0.019	B	0.14578	0.011	T	0.28554	-1.0040	10	0.26408	T	0.33	.	2.1706	0.03848	0.2356:0.4012:0.0:0.3632	.	321	O75717	WDHD1_HUMAN	N	321;198	ENSP00000353793:K321N;ENSP00000391049:K198N	ENSP00000353793:K321N	K	-	3	2	WDHD1	54532261	0.933000	0.31639	1.000000	0.80357	0.941000	0.58515	-0.103000	0.10940	0.662000	0.31006	0.561000	0.74099	AAG		0.274	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		24	109	1	0	4.72057e-08	1	4.92026e-08	24	109				
GP9	2815	broad.mit.edu	37	3	128780850	128780850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780850G>A	ENST00000307395.4	+	3	490	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	90	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGGCACTGTGACTGCAGCCT	0.682																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(268-270)Gac>Aac		glycoprotein IX (platelet)	Quinine(DB00468)						47.0	44.0	45.0					3																	128780850		2203	4300	6503	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780850G>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.268G>A	3.37:g.128780850G>A	ENSP00000303942:p.Asp90Asn						p.D90N	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	490	+			90			LRRCT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.268G>A	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291792	0.80914	.	.	ENSG00000169704	ENST00000307395	D	0.91068	-2.78	4.17	4.17	0.49024	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.91723	0.7383	M	0.69185	2.1	0.45791	D	0.998672	D	0.63880	0.993	P	0.52309	0.695	D	0.91489	0.5210	10	0.42905	T	0.14	-34.9611	13.9974	0.64411	0.0:0.0:1.0:0.0	.	90	P14770	GPIX_HUMAN	N	90	ENSP00000303942:D90N	ENSP00000303942:D90N	D	+	1	0	GP9	130263540	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.765000	0.55272	2.120000	0.65058	0.462000	0.41574	GAC		0.682	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			61	304	0	0	0	1	0	61	304				
POSTN	10631	broad.mit.edu	37	13	38138654	38138654	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38138654A>G	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAATACACTTACCTTGAACTT	0.318																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.e22+1		periostin, osteoblast specific factor							177.0	160.0	166.0					13																	38138654		2203	4299	6502	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38138654A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2473+1T>C	13.37:g.38138654A>G						POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site		NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	22	2591	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37		CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	6.781	0.513056	0.12944	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.32	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.269	0.26246	0.7765:0.1462:0.0773:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37036654	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.135000	0.50546	0.403000	0.25479	0.454000	0.30748	.		0.318	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	10	323	0	0	0	1	0	10	323				
DYNC2H1	79659	broad.mit.edu	37	11	103158293	103158293	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103158293G>T	ENST00000375735.2	+	75	11198	c.11054G>T	c.(11053-11055)aGa>aTa	p.R3685I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3685					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGACCGGACAGATTGCAAAGT	0.323																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11053-11055)aGa>aTa		dynein, cytoplasmic 2, heavy chain 1							98.0	92.0	94.0					11																	103158293		1836	4086	5922	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103158293G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11054G>T	11.37:g.103158293G>T	ENSP00000364887:p.Arg3685Ile					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I	p.R3685I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	75	11198	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3685					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11054G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218475	0.95104	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.16597	2.33;2.33	5.79	5.79	0.91817	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.993;0.997	T	0.62835	-0.6770	10	0.87932	D	0	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	3685;3692	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3685;3692	ENSP00000364887:R3685I;ENSP00000381167:R3692I	ENSP00000364887:R3685I	R	+	2	0	DYNC2H1	102663503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.711000	0.84669	2.746000	0.94184	0.655000	0.94253	AGA		0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		17	103	1	0	2.94398e-08	1	3.0722e-08	17	103				
COL6A3	1293	broad.mit.edu	37	2	238285711	238285711	+	Missense_Mutation	SNP	C	C	T	rs372127270		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238285711C>T	ENST00000295550.4	-	7	3226	c.2774G>A	c.(2773-2775)aGg>aAg	p.R925K	COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	925	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAAAATGTACCTCTGTGCATA	0.542																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2773-2775)aGg>aAg		collagen, type VI, alpha 3							86.0	75.0	79.0					2																	238285711		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285711C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2774G>A	2.37:g.238285711C>T	ENSP00000295550:p.Arg925Lys					COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K	p.R925K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3226	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	925			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2774G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286726	0.40494	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	4.67	0.58626	von Willebrand factor, type A (3);	0.103753	0.41396	D	0.000884	T	0.82144	0.4973	N	0.25426	0.745	0.19575	N	0.999968	B;P;B;B;P;B	0.50943	0.09;0.94;0.149;0.291;0.866;0.201	B;P;B;P;P;B	0.57548	0.13;0.823;0.314;0.491;0.591;0.13	T	0.73483	-0.3968	10	0.22706	T	0.39	.	14.6055	0.68475	0.0:0.9293:0.0:0.0707	.	725;318;518;719;719;925	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	K	925;724;719;318;719;725;719;518	ENSP00000295550:R925K;ENSP00000315609:R724K;ENSP00000315873:R719K;ENSP00000418285:R318K;ENSP00000386844:R719K;ENSP00000295546:R725K;ENSP00000375861:R719K;ENSP00000375860:R518K	ENSP00000295550:R925K	R	-	2	0	COL6A3	237950450	0.001000	0.12720	0.005000	0.12908	0.365000	0.29674	1.221000	0.32503	1.335000	0.45486	0.655000	0.94253	AGG		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		80	371	0	0	0	1	0	80	371				
ERBB3	2065	broad.mit.edu	37	12	56479013	56479013	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56479013G>T	ENST00000267101.3	+	3	861				ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.D157Y|ERBB3_ENST00000415288.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3						cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCAGCCCAAGACTGGTACCT	0.577																																						ENST00000411731.2																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(469-471)Gac>Tac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							75.0	75.0	75.0					12																	56479013		2203	4300	6503	SO:0001627	intron_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56479013G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.421+48G>T	12.37:g.56479013G>T						ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Intron|ERBB3_ENST00000267101.3_Intron	p.D157Y	NM_001005915.1	NP_001005915.1	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	633	+			0					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.469G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821290	0.32237	.	.	ENSG00000065361	ENST00000411731	T	0.35789	1.29	2.91	1.99	0.26369	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	0.999995	P	0.41041	0.736	B	0.41088	0.347	T	0.08932	-1.0698	7	.	.	.	.	5.1894	0.15201	0.1693:0.0:0.8307:0.0	.	157	P21860-2	.	Y	157	ENSP00000415753:D157Y	.	D	+	1	0	ERBB3	54765280	0.001000	0.12720	0.004000	0.12327	0.026000	0.11368	0.935000	0.28924	0.787000	0.33731	0.561000	0.74099	GAC		0.577	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			17	344	1	0	1.5739e-10	1	1.67034e-10	17	344				
MEGF8	1954	broad.mit.edu	37	19	42866638	42866638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42866638C>T	ENST00000251268.6	+	34	5947	c.5947C>T	c.(5947-5949)Cga>Tga	p.R1983*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.R1916*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1983					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GATCAACCAGCGAGAGGTCTT	0.627																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5746-5748)Cga>Tga		multiple EGF-like-domains 8							117.0	100.0	106.0					19																	42866638		2203	4300	6503	SO:0001587	stop_gained	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866638C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5947C>T	19.37:g.42866638C>T	ENSP00000251268:p.Arg1983*					MEGF8_ENST00000251268.6_Nonsense_Mutation_p.R1983*	p.R1916*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			33	6381	+		Prostate(69;0.00682)	1983			PSI 4.		A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	37	c.5746C>T		.	.	.	.	.	.	.	.	.	.	C	48	14.208143	0.99784	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.43	3.27	0.37495	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7193	13.577	0.61879	0.2843:0.7157:0.0:0.0	.	.	.	.	X	1916;1983	.	ENSP00000251268:R1983X	R	+	1	2	MEGF8	47558478	1.000000	0.71417	0.999000	0.59377	0.065000	0.16274	2.282000	0.43461	0.658000	0.30925	-0.311000	0.09066	CGA		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		137	557	0	0	0	1	0	137	557				
TRAPPC9	83696	broad.mit.edu	37	8	141381095	141381095	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141381095C>A	ENST00000438773.2	-	8	1452	c.1319G>T	c.(1318-1320)aGt>aTt	p.S440I	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.S538I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	440					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGCGACAGACTGTAGCCGGG	0.597																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1612-1614)aGt>aTt		trafficking protein particle complex 9							81.0	81.0	81.0					8																	141381095		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141381095C>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1319G>T	8.37:g.141381095C>A	ENSP00000405060:p.Ser440Ile					TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S440I|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I	p.S538I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			8	1627	-			440					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1613G>T	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150767|4.150767	0.78001|0.78001	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.5|5.5	4.62|4.62	0.57501|0.57501	.|.	.|0.077470	.|0.85682	.|D	.|0.000000	T|T	0.64148|0.64148	0.2572|0.2572	L|L	0.34521|0.34521	1.04|1.04	0.48087|0.48087	D|D	0.999587|0.999587	.|D;P;D	.|0.71674	.|0.998;0.887;0.996	.|D;P;P	.|0.65773	.|0.938;0.668;0.878	T|T	0.64947|0.64947	-0.6287|-0.6287	5|9	.|0.46703	.|T	.|0.11	.|.	14.0622|14.0622	0.64806|0.64806	0.151:0.849:0.0:0.0|0.151:0.849:0.0:0.0	.|.	.|440;431;538	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	H|I	283|538;431;440	.|.	.|ENSP00000373978:S431I	Q|S	-|-	3|2	2|0	TRAPPC9|TRAPPC9	141450277|141450277	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.731000|0.731000	0.41821|0.41821	7.433000|7.433000	0.80362|0.80362	1.310000|1.310000	0.45006|0.45006	0.455000|0.455000	0.32223|0.32223	CAG|AGT		0.597	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		94	430	1	0	8.2166e-39	1	9.9152e-39	94	430				
ADAMTSL1	92949	broad.mit.edu	37	9	18622252	18622252	+	Silent	SNP	C	C	T	rs374475613		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(484-486)tgC>tgT		ADAMTS-like 1		C	,	0,4406		0,0,2203	103.0	92.0	96.0		486,486	-7.9	0.8	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	162/1763,162/526	18622252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18622252C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.486C>T	9.37:g.18622252C>T						ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C	p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	5	825	+			162					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.486C>T	CCDS47954.1																																																																																				0.512	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			64	263	0	0	0	1	0	64	263				
ARSK	153642	broad.mit.edu	37	5	94901721	94901721	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94901721A>G	ENST00000380009.4	+	2	351	c.146A>G	c.(145-147)cAt>cGt	p.H49R		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	49					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTAACATTTCATCCAGGAAGT	0.323																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(145-147)cAt>cGt		arylsulfatase family, member K							71.0	66.0	68.0					5																	94901721		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94901721A>G		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.146A>G	5.37:g.94901721A>G	ENSP00000369346:p.His49Arg						p.H49R	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	2	351	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	49					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.146A>G	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426397	0.25726	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.99887	-7.53	6.17	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.399540	0.29638	N	0.011585	D	0.99052	0.9675	N	0.25647	0.755	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.99984	1.3018	10	0.25751	T	0.34	-5.2358	7.7932	0.29133	0.6385:0.1248:0.0:0.2367	.	49	Q6UWY0	ARSK_HUMAN	R	49	ENSP00000369346:H49R	ENSP00000369346:H49R	H	+	2	0	ARSK	94927477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.829000	0.55760	1.130000	0.42092	0.533000	0.62120	CAT		0.323	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		29	98	0	0	0	1	0	29	98				
UPF2	26019	broad.mit.edu	37	10	12070779	12070779	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12070779G>A	ENST00000356352.2	-	2	1583	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	UPF2_ENST00000397053.2_Silent_p.D370D|UPF2_ENST00000357604.5_Silent_p.D370D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	370	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCTCCCTGTGGTCCCTTTTCA	0.368																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(1108-1110)gaC>gaT		UPF2 regulator of nonsense transcripts homolog (yeast)							71.0	75.0	74.0					10																	12070779		2201	4298	6499	SO:0001819	synonymous_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12070779G>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1110C>T	10.37:g.12070779G>A						UPF2_ENST00000397053.2_Silent_p.D370D|UPF2_ENST00000357604.5_Silent_p.D370D	p.D370D			Q9HAU5	RENT2_HUMAN			2	1583	-		Renal(717;0.228)	370			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	c.1110C>T	CCDS7086.1																																																																																				0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			90	344	0	0	0	1	0	90	344				
SLC14A2	8170	broad.mit.edu	37	18	43224100	43224100	+	Silent	SNP	C	C	T	rs201995847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43224100C>T	ENST00000255226.6	+	10	2142	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	RP11-116O18.1_ENST00000590535.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.S442S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	442					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGAAAAGCGGTGAAGAAG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19184	0.001		0.0	False		,,,				2504	0.0					ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1324-1326)agC>agT		solute carrier family 14 (urea transporter), member 2							134.0	131.0	132.0					18																	43224100		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43224100C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1326C>T	18.37:g.43224100C>T						SLC14A2_ENST00000586448.1_Silent_p.S442S	p.S442S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			10	2142	+			442					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.1326C>T	CCDS11924.1																																																																																				0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			99	530	0	0	0	1	0	99	530				
TTN	7273	broad.mit.edu	37	2	179647624	179647624	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647624G>T	ENST00000591111.1	-	18	3233	c.3009C>A	c.(3007-3009)cgC>cgA	p.R1003R	TTN_ENST00000359218.5_Silent_p.R957R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000589042.1_Silent_p.R1003R|TTN_ENST00000342992.6_Silent_p.R1003R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.R1003R			Q8WZ42	TITIN_HUMAN	titin	32556	Ig-like 3.				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)			CAAATGCTTCGCGAATCATAA	0.502																																						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.(3007-3009)cgC>cgA		titin							97.0	92.0	94.0					2																	179647624		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647624G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3009C>A	2.37:g.179647624G>T						TTN_ENST00000360870.5_Silent_p.R1003R|TTN_ENST00000359218.5_Silent_p.R957R|TTN_ENST00000342992.6_Silent_p.R1003R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000591111.1_Silent_p.R1003R	p.R1003R	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)		18	3233	-			1003			Ig-like 3.		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.3009C>A																																																																																					0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	368	1	0	7.92952e-12	1	8.47903e-12	26	368				
UBQLN3	50613	broad.mit.edu	37	11	5530259	5530259	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530259A>T	ENST00000311659.4	-	2	677	c.530T>A	c.(529-531)aTc>aAc	p.I177N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	177										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACCCGGGATGAAGGGGTC	0.562																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(529-531)aTc>aAc		ubiquilin 3							71.0	70.0	70.0					11																	5530259		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530259A>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.530T>A	11.37:g.5530259A>T	ENSP00000347997:p.Ile177Asn					HBG2_ENST00000380259.2_Intron	p.I177N	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	677	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	177					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.530T>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115612	0.77323	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54279	1.13;0.58	5.55	5.55	0.83447	.	0.000000	0.48286	D	0.000187	T	0.70789	0.3264	M	0.87682	2.9	0.47862	D	0.999531	D	0.54397	0.966	P	0.55667	0.781	T	0.77236	-0.2662	10	0.87932	D	0	-9.9209	13.9369	0.64029	1.0:0.0:0.0:0.0	.	177	Q9H347	UBQL3_HUMAN	N	177	ENSP00000347997:I177N;ENSP00000412561:I177N	ENSP00000347997:I177N	I	-	2	0	UBQLN3	5486835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.344000	0.59354	2.238000	0.73509	0.477000	0.44152	ATC		0.562	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		64	355	0	0	0	1	0	64	355				
CELSR3	1951	broad.mit.edu	37	3	48698703	48698703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698703C>T	ENST00000164024.4	-	1	1645	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.L455L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	455	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTGGCACGCAGCTGCAGGA	0.677																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(1363-1365)ctG>ctA		cadherin, EGF LAG seven-pass G-type receptor 3							29.0	27.0	28.0					3																	48698703		2202	4300	6502	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698703C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1365G>A	3.37:g.48698703C>T						CELSR3_ENST00000164024.4_Silent_p.L455L	p.L455L			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1645	-			455			Cadherin 2.		O75092	Silent	SNP	ENST00000164024.4	37	c.1365G>A	CCDS2775.1																																																																																				0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		58	163	0	0	0	1	0	58	163				
TC2N	123036	broad.mit.edu	37	14	92280104	92280104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92280104C>T	ENST00000435962.2	-	2	333	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	TC2N_ENST00000360594.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K|TC2N_ENST00000340892.5_Missense_Mutation_p.E4K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	4					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTATAAATTCTGTTGCCATT	0.323																																						ENST00000435962.2																			0				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18						c.(10-12)Gaa>Aaa		tandem C2 domains, nuclear							62.0	60.0	61.0					14																	92280104		2202	4298	6500	SO:0001583	missense	123036					nucleus		g.chr14:92280104C>T	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.10G>A	14.37:g.92280104C>T	ENSP00000387882:p.Glu4Lys					TC2N_ENST00000340892.5_Missense_Mutation_p.E4K|TC2N_ENST00000360594.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K	p.E4K	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	2	333	-			4						Missense_Mutation	SNP	ENST00000435962.2	37	c.10G>A	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102708	0.94245	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.20598	3.03;3.03;3.03;2.06	6.17	6.17	0.99709	.	0.105362	0.64402	D	0.000007	T	0.32164	0.0820	M	0.64997	1.995	0.53688	D	0.999979	P;B	0.43231	0.801;0.297	B;B	0.42361	0.385;0.172	T	0.02632	-1.1131	10	0.87932	D	0	-19.9146	20.8794	0.99867	0.0:1.0:0.0:0.0	.	4;4	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	K	4	ENSP00000387882:E4K;ENSP00000343199:E4K;ENSP00000353802:E4K;ENSP00000451317:E4K	ENSP00000343199:E4K	E	-	1	0	TC2N	91349857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.941000	0.99782	0.655000	0.94253	GAA		0.323	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		11	89	0	0	0	1	0	11	89				
LRFN1	57622	broad.mit.edu	37	19	39798496	39798496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798496G>A	ENST00000248668.4	-	2	2092	c.2093C>T	c.(2092-2094)cCg>cTg	p.P698L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	698						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCGGCCTCGGCCGGGCCGC	0.721																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2092-2094)cCg>cTg		leucine rich repeat and fibronectin type III domain containing 1							7.0	8.0	8.0					19																	39798496		1818	4022	5840	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798496G>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.2093C>T	19.37:g.39798496G>A	ENSP00000248668:p.Pro698Leu						p.P698L	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	2092	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		698					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.2093C>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	2.755	-0.259229	0.05791	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.48	2.16	0.27623	.	1.002150	0.08049	N	0.996419	T	0.36413	0.0966	N	0.08118	0	0.32786	N	0.501836	P	0.40083	0.702	B	0.25291	0.059	T	0.33369	-0.9871	10	0.39692	T	0.17	.	10.8054	0.46514	0.0:0.1395:0.7155:0.145	.	698	Q9P244	LRFN1_HUMAN	L	698	ENSP00000248668:P698L	ENSP00000248668:P698L	P	-	2	0	LRFN1	44490336	0.751000	0.28327	0.918000	0.36340	0.040000	0.13550	4.322000	0.59215	0.350000	0.24002	-2.048000	0.00412	CCG		0.721	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		21	65	0	0	0	1	0	21	65				
UBE2J1	51465	broad.mit.edu	37	6	90053428	90053428	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90053428C>A	ENST00000435041.2	-	2	357	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	27					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TGGTAATGATCTGTTGGATCT	0.269																																						ENST00000435041.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18						c.(79-81)Gat>Tat		ubiquitin-conjugating enzyme E2, J1							59.0	59.0	59.0					6																	90053428		2203	4298	6501	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90053428C>A	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.79G>T	6.37:g.90053428C>A	ENSP00000451261:p.Asp27Tyr						p.D27Y	NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	2	357	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	27					A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.79G>T	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843161	0.71488	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.46451	0.87	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042805	0.85682	D	0.000000	T	0.24586	0.0596	N	0.25286	0.73	0.80722	D	1	B	0.33777	0.425	B	0.36289	0.221	T	0.12066	-1.0562	10	0.54805	T	0.06	.	19.5511	0.95322	0.0:1.0:0.0:0.0	.	27	Q9Y385	UB2J1_HUMAN	Y	27;12	ENSP00000451261:D27Y	ENSP00000354684:D27Y	D	-	1	0	UBE2J1	90110147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.423000	0.73361	2.704000	0.92352	0.650000	0.86243	GAT		0.269	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		35	127	1	0	2.26627e-22	1	2.56399e-22	35	127				
POC1A	25886	broad.mit.edu	37	3	52185074	52185074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52185074C>A	ENST00000296484.2	-	2	100	c.61G>T	c.(61-63)Gca>Tca	p.A21S	POC1A_ENST00000394970.2_Missense_Mutation_p.A21S|POC1A_ENST00000474012.1_5'UTR	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	21					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CAGGTAACTGCATCTCGGTGG	0.532																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(61-63)Gca>Tca		POC1 centriolar protein A							178.0	158.0	165.0					3																	52185074		2203	4300	6503	SO:0001583	missense	25886					centriole|microtubule basal body		g.chr3:52185074C>A	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.61G>T	3.37:g.52185074C>A	ENSP00000296484:p.Ala21Ser					POC1A_ENST00000296484.2_Missense_Mutation_p.A21S|POC1A_ENST00000474012.1_5'UTR	p.A21S	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			2	378	-			21					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	c.61G>T	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730235	0.48939	.	.	ENSG00000164087	ENST00000296484;ENST00000394970	T;T	0.59638	0.25;0.25	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.583031	0.18731	N	0.132733	T	0.45617	0.1351	L	0.37507	1.11	0.32886	D	0.51126	B;B	0.25809	0.135;0.078	B;B	0.26310	0.067;0.068	T	0.50642	-0.8804	10	0.17369	T	0.5	.	11.7868	0.52047	0.0:0.9193:0.0:0.0807	.	21;21	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	S	21	ENSP00000296484:A21S;ENSP00000378421:A21S	ENSP00000296484:A21S	A	-	1	0	POC1A	52160114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.263000	0.43293	2.643000	0.89663	0.650000	0.86243	GCA		0.532	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		126	591	1	0	1.20306e-52	1	1.49704e-52	126	591				
KNTC1	9735	broad.mit.edu	37	12	123082326	123082326	+	Silent	SNP	G	G	A	rs548835839		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123082326G>A	ENST00000333479.7	+	44	4581	c.4404G>A	c.(4402-4404)acG>acA	p.T1468T	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1468					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCATTGAAACGCTGCTCCACA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17502	0.001		0.0	False		,,,				2504	0.0					ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(4402-4404)acG>acA		kinetochore associated 1							97.0	95.0	96.0					12																	123082326		2048	4209	6257	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123082326G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4404G>A	12.37:g.123082326G>A						KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	p.T1468T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	44	4581	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1468					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.4404G>A	CCDS45002.1																																																																																				0.512	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			79	288	0	0	0	1	0	79	288				
MYH4	4622	broad.mit.edu	37	17	10346788	10346788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10346788C>A	ENST00000255381.2	-	40	5834	c.5724G>T	c.(5722-5724)gaG>gaT	p.E1908D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTGGCCTCCTCCAGCTCGT	0.468																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5722-5724)gaG>gaT		myosin, heavy chain 4, skeletal muscle							129.0	118.0	122.0					17																	10346788		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10346788C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5724G>T	17.37:g.10346788C>A	ENSP00000255381:p.Glu1908Asp					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.E1908D	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			40	5834	-			1908						Missense_Mutation	SNP	ENST00000255381.2	37	c.5724G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	3.834	-0.035179	0.07543	.	.	ENSG00000141048	ENST00000255381	D	0.83419	-1.72	5.19	1.03	0.20045	Myosin tail (1);	0.000000	0.37577	U	0.002023	T	0.74943	0.3783	L	0.43646	1.37	0.38826	D	0.955749	B	0.24317	0.101	B	0.34385	0.181	T	0.62267	-0.6890	10	0.15499	T	0.54	.	8.9865	0.35997	0.0:0.5736:0.0:0.4264	.	1908	Q9Y623	MYH4_HUMAN	D	1908	ENSP00000255381:E1908D	ENSP00000255381:E1908D	E	-	3	2	MYH4	10287513	0.136000	0.22515	1.000000	0.80357	0.750000	0.42670	-0.450000	0.06803	0.447000	0.26695	0.655000	0.94253	GAG		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		113	513	1	0	1.76042e-48	1	2.17308e-48	113	513				
KIT	3815	broad.mit.edu	37	4	55565810	55565810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55565810C>T	ENST00000288135.5	+	4	731	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	212	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGCTGTGCCTGTTGTGTC	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(634-636)Cct>Tct		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						130.0	114.0	120.0					4																	55565810		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55565810C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.634C>T	4.37:g.55565810C>T	ENSP00000288135:p.Pro212Ser						p.P212S	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	4	731	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		212			Ig-like C2-type 3.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.634C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985470	0.53934	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.88124	-2.34;-2.34	5.74	5.74	0.90152	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	D	0.93341	0.7877	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93277	0.6657	10	0.59425	D	0.04	.	18.0955	0.89488	0.0:1.0:0.0:0.0	.	212;212	P10721-2;P10721	.;KIT_HUMAN	S	212	ENSP00000288135:P212S;ENSP00000390987:P212S	ENSP00000288135:P212S	P	+	1	0	KIT	55260567	0.972000	0.33761	0.180000	0.23079	0.237000	0.25408	4.715000	0.61909	2.707000	0.92482	0.557000	0.71058	CCT		0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			61	301	0	0	0	1	0	61	301				
KHSRP	8570	broad.mit.edu	37	19	6427420	6427420	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6427420G>A	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Silent_p.R239R	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGTAAAGGGCGCGGGTGCCCT	0.637																																					Colon(55;593 1006 2067 9135 22980)	ENST00000321510.6																			0				large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(715-717)cgC>cgT		solute carrier family 25, member 41							28.0	35.0	33.0					19																	6427420		2197	4297	6494	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6427420G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427420G>A	Exception_encountered						p.R239R	NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN			5	785	-			239					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.717C>T	CCDS45936.1																																																																																				0.637	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			16	94	0	0	0	1	0	16	94				
ZNF430	80264	broad.mit.edu	37	19	21240602	21240602	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21240602A>C	ENST00000261560.5	+	5	1669	c.1488A>C	c.(1486-1488)caA>caC	p.Q496H	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	496					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTTAACCAATTCTCAAACC	0.363																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1486-1488)caA>caC		zinc finger protein 430							58.0	62.0	61.0					19																	21240602		2203	4300	6503	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240602A>C	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1488A>C	19.37:g.21240602A>C	ENSP00000261560:p.Gln496His						p.Q496H	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	1669	+			496					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1488A>C	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.881327	0.00532	.	.	ENSG00000118620	ENST00000261560	T	0.60920	0.15	1.0	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35913	0.0948	L	0.35644	1.08	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.23261	-1.0193	9	0.12103	T	0.63	.	2.1703	0.03847	0.2537:0.0:0.319:0.4272	.	495;496	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	H	496	ENSP00000261560:Q496H	ENSP00000261560:Q496H	Q	+	3	2	ZNF430	21032442	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.943000	0.00329	-0.629000	0.05575	-0.652000	0.03908	CAA		0.363	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		39	169	0	0	0	1	0	39	169				
NLE1	54475	broad.mit.edu	37	17	33463193	33463193	+	Missense_Mutation	SNP	C	C	T	rs187705654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33463193C>T	ENST00000442241.4	-	9	1045	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	NLE1_ENST00000360831.5_Missense_Mutation_p.V294M|NLE1_ENST00000586869.1_Missense_Mutation_p.V44M|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	336					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CTCACCCGCACGAGGTTGTAT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17561	0.001		0.0	False		,,,				2504	0.0					ENST00000586869.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(130-132)Gtg>Atg		notchless homolog 1 (Drosophila)							168.0	171.0	170.0					17																	33463193		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33463193C>T		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1006G>A	17.37:g.33463193C>T	ENSP00000413572:p.Val336Met					NLE1_ENST00000442241.4_Missense_Mutation_p.V336M|NLE1_ENST00000360831.5_Missense_Mutation_p.V294M	p.V44M			Q9NVX2	NLE1_HUMAN			8	1149	-		Ovarian(249;0.17)	336					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.130G>A	CCDS11291.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.63	2.293743	0.40594	.	.	ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697	T	0.60171	0.21	5.1	3.0	0.34707	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114208	0.64402	N	0.000016	T	0.58623	0.2135	L	0.43152	1.355	0.40738	D	0.982804	D;P	0.60575	0.988;0.904	P;P	0.59357	0.856;0.543	T	0.57277	-0.7839	10	0.37606	T	0.19	-17.8702	6.5262	0.22303	0.0:0.7806:0.0:0.2194	.	312;336	B4E074;Q9NVX2	.;NLE1_HUMAN	M	336;44;312	ENSP00000413572:V336M	ENSP00000354075:V44M	V	-	1	0	NLE1	30487306	0.996000	0.38824	0.182000	0.23118	0.185000	0.23345	3.248000	0.51430	1.396000	0.46663	-0.222000	0.12452	GTG		0.552	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		230	1162	0	0	0	1	0	230	1162				
MYL3	4634	broad.mit.edu	37	3	46904811	46904811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46904811C>T	ENST00000395869.1	-	1	121	c.70G>A	c.(70-72)Gca>Aca	p.A24T	MYL3_ENST00000292327.4_Missense_Mutation_p.A24T			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	24					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGGGGAGGTGCGGGAGCTGGA	0.592																																					Melanoma(166;130 1949 2249 18977 46142)	ENST00000395869.1																			0				breast(1)|lung(2)	3						c.(70-72)Gca>Aca		myosin, light chain 3, alkali; ventricular, skeletal, slow							86.0	91.0	89.0					3																	46904811		2203	4300	6503	SO:0001583	missense	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46904811C>T		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.70G>A	3.37:g.46904811C>T	ENSP00000379210:p.Ala24Thr					MYL3_ENST00000292327.4_Missense_Mutation_p.A24T	p.A24T			P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	1	121	-			24					B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	37	c.70G>A	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773711	0.16051	.	.	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84298	-1.83;-1.83	2.95	2.07	0.26955	.	0.492773	0.19873	N	0.104154	T	0.80773	0.4687	M	0.78801	2.425	0.09310	N	1	B	0.19583	0.037	B	0.04013	0.001	T	0.65438	-0.6168	10	0.23891	T	0.37	-12.4256	5.9945	0.19487	0.0:0.8539:0.0:0.1461	.	24	P08590	MYL3_HUMAN	T	24	ENSP00000379210:A24T;ENSP00000292327:A24T	ENSP00000292327:A24T	A	-	1	0	MYL3	46879815	0.899000	0.30636	0.059000	0.19551	0.180000	0.23129	1.459000	0.35234	0.836000	0.34901	-0.258000	0.10820	GCA		0.592	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		21	585	0	0	0	1	0	21	585				
NCKAP1	10787	broad.mit.edu	37	2	183793529	183793529	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183793529A>G	ENST00000361354.4	-	28	3424	c.3052T>C	c.(3052-3054)Tac>Cac	p.Y1018H	NCKAP1_ENST00000360982.2_Missense_Mutation_p.Y1024H|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1018					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCAGGGCTGTACTGAGACATC	0.363																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(3070-3072)Tac>Cac		NCK-associated protein 1							86.0	83.0	84.0					2																	183793529		2203	4299	6502	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183793529A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3052T>C	2.37:g.183793529A>G	ENSP00000355348:p.Tyr1018His					NCKAP1_ENST00000361354.3_Missense_Mutation_p.Y1018H|NCKAP1_ENST00000478449.1_5'UTR	p.Y1024H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		29	3828	-			1018					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.3070T>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113469	0.77210	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.51071	0.72;0.72	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.983	T	0.77611	-0.2523	10	0.87932	D	0	-11.5344	15.8359	0.78796	1.0:0.0:0.0:0.0	.	1018;1024	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	1018;1024	ENSP00000355348:Y1018H;ENSP00000354251:Y1024H	ENSP00000354251:Y1024H	Y	-	1	0	NCKAP1	183501774	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	9.229000	0.95273	2.206000	0.71126	0.383000	0.25322	TAC		0.363	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		76	260	0	0	0	1	0	76	260				
ALG11	440138	broad.mit.edu	37	13	52593140	52593140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593140C>A	ENST00000521508.1	+	2	141	c.136C>A	c.(136-138)Cta>Ata	p.L46I	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	46					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CAGACTGCTGCTACAGAGAAA	0.373																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(136-138)Cta>Ata		ALG11, alpha-1,2-mannosyltransferase							151.0	146.0	147.0					13																	52593140		2203	4300	6503	SO:0001583	missense	440138							g.chr13:52593140C>A	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.136C>A	13.37:g.52593140C>A	ENSP00000430236:p.Leu46Ile					ALG11_ENST00000523764.1_Intron	p.L46I	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	2	141	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	c.136C>A	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276529	0.23307	.	.	ENSG00000253710	ENST00000521508	T	0.77358	-1.09	5.74	4.9	0.64082	.	0.594535	0.15138	U	0.278440	T	0.58075	0.2097	N	0.21545	0.675	0.42626	D	0.993367	B	0.13145	0.007	B	0.14023	0.01	T	0.48875	-0.8996	10	0.06236	T	0.91	.	5.5891	0.17291	0.2614:0.5861:0.0:0.1524	.	46	Q2TAA5	ALG11_HUMAN	I	46	ENSP00000430236:L46I	ENSP00000430236:L46I	L	+	1	2	ALG11	51491141	0.990000	0.36364	0.508000	0.27688	0.860000	0.49131	0.250000	0.18235	1.437000	0.47472	0.643000	0.83706	CTA		0.373	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		13	479	1	0	9.31168e-06	1	9.55451e-06	13	479				
SLC4A11	83959	broad.mit.edu	37	20	3212030	3212030	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3212030C>T	ENST00000380056.3	-	7	989	c.942G>A	c.(940-942)gcG>gcA	p.A314A	SLC4A11_ENST00000539553.2_Silent_p.A298A|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.A341A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	314					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCGTTCTCGGCGCCACTGGAC	0.657																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1021-1023)gcG>gcA		solute carrier family 4, sodium borate transporter, member 11							79.0	77.0	78.0					20																	3212030		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3212030C>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.942G>A	20.37:g.3212030C>T						SLC4A11_ENST00000380056.3_Silent_p.A314A|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.A298A	p.A341A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			8	1124	-			314					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1023G>A	CCDS13052.1																																																																																				0.657	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			69	327	0	0	0	1	0	69	327				
OR13C4	138804	broad.mit.edu	37	9	107288998	107288998	+	Nonsense_Mutation	SNP	G	G	A	rs373326335		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107288998G>A	ENST00000277216.3	-	1	492	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAGGCCATCGCATGGCAAGT	0.383																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(493-495)Cga>Tga		olfactory receptor, family 13, subfamily C, member 4		A	stop/ARG	0,4406		0,0,2203	120.0	113.0	115.0		493	-8.2	0.0	9		115	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR13C4	NM_001001919.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		165/319	107288998	1,13005	2203	4300	6503	SO:0001587	stop_gained	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288998G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.493C>T	9.37:g.107288998G>A	ENSP00000277216:p.Arg165*						p.R165*	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	492	-			165					Q6IF51|Q96R41	Nonsense_Mutation	SNP	ENST00000277216.3	37	c.493C>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	g	5.300	0.240786	0.10077	0.0	1.16E-4	ENSG00000148136	ENST00000277216;ENST00000545903	.	.	.	4.12	-8.23	0.01033	.	2.814870	0.01724	U	0.028469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.676	0.17749	0.3553:0.0:0.1292:0.5156	.	.	.	.	X	165;194	.	ENSP00000277216:R165X	R	-	1	2	OR13C4	106328819	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-3.043000	0.00631	-1.604000	0.01595	-2.730000	0.00130	CGA		0.383	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			92	487	0	0	0	1	0	92	487				
SFMBT2	57713	broad.mit.edu	37	10	7285598	7285598	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7285598G>T	ENST00000361972.4	-	9	1132	c.1042C>A	c.(1042-1044)Ctg>Atg	p.L348M	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	348					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCATGGCACAGCATTGACAGT	0.408																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1042-1044)Ctg>Atg		Scm-like with four mbt domains 2							87.0	82.0	84.0					10																	7285598		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7285598G>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1042C>A	10.37:g.7285598G>T	ENSP00000355109:p.Leu348Met					SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	p.L348M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			9	1132	-			348					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1042C>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470197	0.43839	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.33216	1.42;1.42	5.54	2.55	0.30701	.	0.065062	0.64402	D	0.000007	T	0.50360	0.1611	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.42749	-0.9433	10	0.51188	T	0.08	.	7.4248	0.27092	0.1495:0.0:0.7159:0.1346	.	348	Q5VUG0	SMBT2_HUMAN	M	348	ENSP00000355109:L348M;ENSP00000380353:L348M	ENSP00000355109:L348M	L	-	1	2	SFMBT2	7325604	1.000000	0.71417	0.994000	0.49952	0.292000	0.27327	2.717000	0.47227	0.323000	0.23307	0.655000	0.94253	CTG		0.408	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		57	266	1	0	6.3091e-27	1	7.28755e-27	57	266				
NYAP2	57624	broad.mit.edu	37	2	226447226	226447226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226447226G>A	ENST00000272907.6	+	4	1506	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	365	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAAGCTTCCCGTGCTGGAAAA	0.647																																						ENST00000272907.6																			0											c.(1093-1095)Gtg>Atg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							16.0	20.0	19.0					2																	226447226		1964	4133	6097	SO:0001583	missense	57624							g.chr2:226447226G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1093G>A	2.37:g.226447226G>A	ENSP00000272907:p.Val365Met					NYAP2_ENST00000409269.2_Intron	p.V365M	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1506	+			365			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1093G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207181	0.22205	.	.	ENSG00000144460	ENST00000272907	T	0.55930	0.49	5.06	4.17	0.49024	.	0.117306	0.56097	D	0.000021	T	0.69602	0.3129	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70684	-0.4804	10	0.45353	T	0.12	-24.1752	14.832	0.70156	0.0:0.0:0.8549:0.1451	.	365	Q9P242	K1486_HUMAN	M	365	ENSP00000272907:V365M	ENSP00000272907:V365M	V	+	1	0	KIAA1486	226155470	1.000000	0.71417	0.646000	0.29493	0.311000	0.27955	5.979000	0.70508	1.108000	0.41662	-0.188000	0.12872	GTG		0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		22	109	0	0	0	1	0	22	109				
ATP10A	57194	broad.mit.edu	37	15	25963453	25963453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25963453C>T	ENST00000356865.6	-	8	1568	c.1457G>A	c.(1456-1458)aGc>aAc	p.S486N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	486					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACTCTGGTGGCTGCCGATGCT	0.701																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1456-1458)aGc>aAc		ATPase, class V, type 10A							27.0	26.0	26.0					15																	25963453		2198	4299	6497	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25963453C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1457G>A	15.37:g.25963453C>T	ENSP00000349325:p.Ser486Asn						p.S486N	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	8	1568	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	486					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1457G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021428	0.75275	.	.	ENSG00000206190	ENST00000356865	T	0.11063	2.81	5.14	5.14	0.70334	HAD-like domain (1);	0.133177	0.64402	D	0.000002	T	0.22282	0.0537	L	0.43757	1.38	0.50313	D	0.999866	P	0.41188	0.741	P	0.53809	0.735	T	0.00636	-1.1633	10	0.33940	T	0.23	-23.9993	18.6071	0.91271	0.0:1.0:0.0:0.0	.	486	O60312	AT10A_HUMAN	N	486	ENSP00000349325:S486N	ENSP00000349325:S486N	S	-	2	0	ATP10A	23514546	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	5.742000	0.68646	2.382000	0.81193	0.655000	0.94253	AGC		0.701	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		28	141	0	0	0	1	0	28	141				
NRG1	3084	broad.mit.edu	37	8	32621526	32621526	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621526A>G	ENST00000405005.3	+	12	1529	c.1529A>G	c.(1528-1530)aAc>aGc	p.N510S	NRG1_ENST00000356819.4_Missense_Mutation_p.N515S|NRG1_ENST00000338921.4_Missense_Mutation_p.N518S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	510					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATGACAGTAACAGCCTCCCT	0.547																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1552-1554)aAc>aGc		neuregulin 1							94.0	76.0	82.0					8																	32621526		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621526A>G	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1529A>G	8.37:g.32621526A>G	ENSP00000384620:p.Asn510Ser					NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.N515S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287840.5_Missense_Mutation_p.N510S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S|NRG1_ENST00000405005.2_Missense_Mutation_p.N510S	p.N518S			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	2070	+		Breast(100;0.203)	510					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1553A>G	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	1.875	-0.459402	0.04508	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.75	-2.42	0.06542	Neuregulin 1-related, C-terminal (1);	0.466636	0.25130	N	0.032920	T	0.24547	0.0595	N	0.19112	0.55	0.27175	N	0.960821	B;B;B;B;B;B;B	0.13594	0.002;0.008;0.005;0.0;0.008;0.002;0.004	B;B;B;B;B;B;B	0.23150	0.007;0.009;0.029;0.001;0.017;0.044;0.017	T	0.31833	-0.9929	10	0.08837	T	0.75	-4.7042	9.1717	0.37086	0.4312:0.117:0.4519:0.0	.	353;481;515;518;507;510;515	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	S	477;460;583;518;515;510;481;507;510;353	ENSP00000430053:N477S;ENSP00000429582:N460S;ENSP00000429067:N583S;ENSP00000343395:N518S;ENSP00000349275:N515S;ENSP00000287840:N510S;ENSP00000287845:N481S;ENSP00000287842:N507S;ENSP00000384620:N510S;ENSP00000439276:N353S	ENSP00000287840:N510S	N	+	2	0	NRG1	32741068	1.000000	0.71417	0.525000	0.27900	0.036000	0.12997	0.832000	0.27490	-0.673000	0.05259	-0.475000	0.04921	AAC		0.547	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			38	244	0	0	0	1	0	38	244				
IGSF8	93185	broad.mit.edu	37	1	160065030	160065030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160065030C>T	ENST00000368086.1	-	2	287	c.71G>A	c.(70-72)gGa>gAa	p.G24E	IGSF8_ENST00000314485.7_Missense_Mutation_p.G24E|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	24					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCAGCATCCCATTCCTGT	0.597																																						ENST00000368086.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(70-72)gGa>gAa		immunoglobulin superfamily, member 8							21.0	23.0	22.0					1																	160065030		2203	4299	6502	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160065030C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.71G>A	1.37:g.160065030C>T	ENSP00000357065:p.Gly24Glu					IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.G24E	p.G24E			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	287	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		24					Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.71G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409436	0.25378	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.10005	3.54;3.54;2.92	4.64	0.423	0.16463	Immunoglobulin-like (1);	1.406170	0.04787	N	0.430823	T	0.01695	0.0054	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45323	-0.9269	10	0.20519	T	0.43	-2.0868	2.2414	0.04021	0.2633:0.451:0.1286:0.1571	.	24	Q969P0	IGSF8_HUMAN	E	24	ENSP00000316664:G24E;ENSP00000357065:G24E;ENSP00000397464:G24E	ENSP00000316664:G24E	G	-	2	0	IGSF8	158331654	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.555000	0.05999	-0.021000	0.14009	0.563000	0.77884	GGA		0.597	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		6	173	0	0	0	1	0	6	173				
SLC5A3	6526	broad.mit.edu	37	21	35467703	35467703	+	Missense_Mutation	SNP	C	C	T	rs370576963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35467703C>T	ENST00000381151.3	+	2	718	c.206C>T	c.(205-207)gCa>gTa	p.A69V	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A69V|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	69					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATTGGGCTGGCAGGATCTGGA	0.498																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(205-207)gCa>gTa		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3		C	VAL/ALA,	0,4406		0,0,2203	137.0	130.0	132.0		206,	5.9	1.0	21		132	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	SLC5A3,MRPS6	NM_006933.4,NM_032476.3	64,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	69/719,	35467703	1,13005	2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467703C>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.206C>T	21.37:g.35467703C>T	ENSP00000370543:p.Ala69Val					MRPS6_ENST00000399312.2_Intron	p.A69V	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	718	+			69					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.206C>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004086	0.74932	0.0	1.16E-4	ENSG00000198743	ENST00000381151	D	0.90788	-2.73	5.92	5.92	0.95590	.	0.053770	0.64402	D	0.000001	D	0.96537	0.8870	M	0.91561	3.22	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96820	0.9603	10	0.87932	D	0	.	18.8931	0.92413	0.0:1.0:0.0:0.0	.	69	P53794	SC5A3_HUMAN	V	69	ENSP00000370543:A69V	ENSP00000370543:A69V	A	+	2	0	SLC5A3	34389573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.810000	0.86072	2.805000	0.96524	0.609000	0.83330	GCA		0.498	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			25	446	0	0	0	1	0	25	446				
SLC43A3	29015	broad.mit.edu	37	11	57193571	57193571	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57193571G>A	ENST00000395123.2	-	3	379	c.75C>T	c.(73-75)ggC>ggT	p.G25G	SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_Silent_p.G25G|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000533524.1_Silent_p.G25G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	25					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CAAAGAGGACGCCAGCAAAGC	0.557																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(73-75)ggC>ggT		solute carrier family 43, member 3							94.0	95.0	95.0					11																	57193571		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57193571G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.75C>T	11.37:g.57193571G>A						SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_Silent_p.G25G|SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000533524.1_Silent_p.G25G	p.G25G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			3	379	-			25					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.75C>T	CCDS7956.1																																																																																				0.557	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		131	529	0	0	0	1	0	131	529				
ECHDC1	55862	broad.mit.edu	37	6	127611094	127611094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127611094C>T	ENST00000531967.1	-	6	1347	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	282						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AGATCTCTTTCGTTCTGTAAT	0.383																																						ENST00000531967.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(844-846)Gaa>Aaa		enoyl CoA hydratase domain containing 1							108.0	102.0	104.0					6																	127611094		1818	4075	5893	SO:0001583	missense	55862						catalytic activity	g.chr6:127611094C>T	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.844G>A	6.37:g.127611094C>T	ENSP00000436585:p.Glu282Lys					ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR	p.E282K	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	6	1347	-			282					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	c.844G>A	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870546	0.91587	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.22	4.36	0.52297	.	0.045054	0.85682	N	0.000000	D	0.86952	0.6057	M	0.88640	2.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.89839	0.4001	10	0.87932	D	0	-3.0695	14.0748	0.64882	0.0:0.9269:0.0:0.0731	.	282	Q9NTX5	ECHD1_HUMAN	K	276;282;276;201;259;276	ENSP00000401751:E276K;ENSP00000436585:E282K;ENSP00000434908:E276K;ENSP00000404866:E201K;ENSP00000311115:E259K;ENSP00000402492:E276K	ENSP00000311115:E259K	E	-	1	0	ECHDC1	127652787	1.000000	0.71417	0.727000	0.30756	0.953000	0.61014	7.249000	0.78278	1.331000	0.45412	0.563000	0.77884	GAA		0.383	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			131	539	0	0	0	1	0	131	539				
PLK3	1263	broad.mit.edu	37	1	45271006	45271006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271006G>A	ENST00000372201.4	+	14	1943	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	568	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGTGGGTCAAGACGGATCAGG	0.602																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1702-1704)aaG>aaA		polo-like kinase 3							184.0	143.0	157.0					1																	45271006		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271006G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1704G>A	1.37:g.45271006G>A						PLK3_ENST00000465443.1_3'UTR	p.K568K	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			14	1943	+	Acute lymphoblastic leukemia(166;0.155)		568			POLO box 2.		Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.1704G>A	CCDS515.1																																																																																				0.602	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		91	330	0	0	0	1	0	91	330				
MSH4	4438	broad.mit.edu	37	1	76262729	76262729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76262729C>T	ENST00000263187.3	+	1	163	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	20				SS -> VV (in Ref. 1; AAB72039). {ECO:0000305}.	ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCCGTCGTCGGGAGAAACC	0.602								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(58-60)tCg>tTg	Mismatch excision repair (MMR)	mutS homolog 4							35.0	36.0	35.0					1																	76262729		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76262729C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.59C>T	1.37:g.76262729C>T	ENSP00000263187:p.Ser20Leu						p.S20L	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			1	163	+			20	SS -> VV (in Ref. 1; AAB72039).				Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.59C>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293483	0.23564	.	.	ENSG00000057468	ENST00000263187	D	0.90261	-2.64	3.47	-0.0349	0.13894	.	5.525940	0.00481	N	0.000125	T	0.60157	0.2247	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60796	-0.7192	10	0.15499	T	0.54	-0.5266	4.8	0.13292	0.0:0.5245:0.2406:0.2349	.	20	O15457	MSH4_HUMAN	L	20	ENSP00000263187:S20L	ENSP00000263187:S20L	S	+	2	0	MSH4	76035317	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.061000	0.14366	-0.003000	0.14444	0.462000	0.41574	TCG		0.602	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		19	262	0	0	0	1	0	19	262				
LRIT3	345193	broad.mit.edu	37	4	110791701	110791701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791701T>G	ENST00000594814.1	+	4	1796	c.1796T>G	c.(1795-1797)aTt>aGt	p.I599S	LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000327908.3_Missense_Mutation_p.I416S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	599					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTACCATTGATTTGTTTCTTG	0.393																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1246-1248)aTt>aGt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							171.0	168.0	169.0					4																	110791701		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791701T>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1796T>G	4.37:g.110791701T>G	ENSP00000469759:p.Ile599Ser					LRIT3_ENST00000594814.1_Missense_Mutation_p.I599S|LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S	p.I416S			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	2011	+			554					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1247T>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793625	0.70452	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.60040	0.22;0.4;0.22	5.37	5.37	0.77165	.	0.095629	0.64402	D	0.000001	T	0.71126	0.3303	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.62298	0.726;0.9	T	0.74213	-0.3738	10	0.62326	D	0.03	.	15.3813	0.74658	0.0:0.0:0.0:1.0	.	554;416	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	416;554;416	ENSP00000328222:I416S;ENSP00000369252:I554S;ENSP00000386734:I416S	ENSP00000328222:I416S	I	+	2	0	LRIT3	111011150	1.000000	0.71417	0.973000	0.42090	0.776000	0.43924	4.782000	0.62396	2.030000	0.59900	0.533000	0.62120	ATT		0.393	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		64	344	0	0	0	1	0	64	344				
SLC16A14	151473	broad.mit.edu	37	2	230911293	230911293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230911293G>A	ENST00000295190.4	-	4	1007	c.549C>T	c.(547-549)tgC>tgT	p.C183C		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CGTACTCTGCGCACAGGTACT	0.577																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(547-549)tgC>tgT		solute carrier family 16, member 14							92.0	90.0	91.0					2																	230911293		2203	4300	6503	SO:0001819	synonymous_variant	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230911293G>A	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.549C>T	2.37:g.230911293G>A							p.C183C	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1007	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	183					A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	c.549C>T	CCDS2473.1																																																																																				0.577	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		103	521	0	0	0	1	0	103	521				
ABCC10	89845	broad.mit.edu	37	6	43400442	43400442	+	Missense_Mutation	SNP	C	C	T	rs147197045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400442C>T	ENST00000372530.4	+	3	939	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.R199W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	242					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGGAGAGCTCCGGCAGCCTCA	0.637																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(595-597)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	39.0	41.0	40.0		724,595	4.7	1.0	6	dbSNP_134	40	1,8599		0,1,4299	no	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	242/1493,199/1465	43400442	1,13005	2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400442C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.724C>T	6.37:g.43400442C>T	ENSP00000361608:p.Arg242Trp					ABCC10_ENST00000372530.4_Missense_Mutation_p.R242W|ABCC10_ENST00000443426.2_Intron	p.R199W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	954	+	all_lung(25;0.00536)		242					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.595C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754339	0.49362	0.0	1.16E-4	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91124	-2.78;-2.79	5.54	4.66	0.58398	.	0.660669	0.16213	N	0.224391	D	0.83069	0.5174	N	0.24115	0.695	0.09310	N	0.999999	D;D	0.64830	0.994;0.978	P;B	0.51229	0.663;0.232	T	0.78306	-0.2255	10	0.72032	D	0.01	-34.6797	13.566	0.61819	0.4012:0.5988:0.0:0.0	.	199;242	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	242;199	ENSP00000361608:R242W;ENSP00000244533:R199W	ENSP00000244533:R199W	R	+	1	2	ABCC10	43508420	0.980000	0.34600	0.973000	0.42090	0.700000	0.40528	2.161000	0.42358	1.316000	0.45131	0.561000	0.74099	CGG		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		10	402	0	0	0	1	0	10	402				
ABCA13	154664	broad.mit.edu	37	7	48311809	48311809	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48311809A>C	ENST00000435803.1	+	17	2570	c.2546A>C	c.(2545-2547)aAa>aCa	p.K849T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	849					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAGAGCTAAATTGGAAAAC	0.299																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2545-2547)aAa>aCa		ATP-binding cassette, sub-family A (ABC1), member 13							36.0	36.0	36.0					7																	48311809		1784	4057	5841	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311809A>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2546A>C	7.37:g.48311809A>C	ENSP00000411096:p.Lys849Thr						p.K849T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2570	+			849					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2546A>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.387	-0.125226	0.06795	.	.	ENSG00000179869	ENST00000435803	D	0.87966	-2.32	5.86	3.45	0.39498	.	0.650904	0.14020	N	0.346875	T	0.76912	0.4054	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.58934	-0.7548	10	0.17832	T	0.49	.	6.849	0.24005	0.5738:0.2762:0.0:0.15	.	849	Q86UQ4	ABCAD_HUMAN	T	849	ENSP00000411096:K849T	ENSP00000411096:K849T	K	+	2	0	ABCA13	48282355	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.306000	0.19279	0.461000	0.27071	-0.299000	0.09455	AAA		0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		39	182	0	0	0	1	0	39	182				
PLXNB3	5365	broad.mit.edu	37	X	153032912	153032912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032912G>A	ENST00000361971.5	+	3	744	c.630G>A	c.(628-630)ggG>ggA	p.G210G	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Silent_p.G233G	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	210	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGCCGGGTCTCAGCCCT	0.716																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(697-699)ggG>ggA		plexin B3							12.0	12.0	12.0					X																	153032912		2183	4267	6450	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032912G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.630G>A	X.37:g.153032912G>A						PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Silent_p.G210G|PLXNB3_ENST00000538543.1_Intron	p.G233G	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	970	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		210			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.699G>A	CCDS14729.1																																																																																				0.716	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			21	78	0	0	0	1	0	21	78				
MACF1	23499	broad.mit.edu	37	1	39910396	39910396	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39910396A>G	ENST00000372915.3	+	79	19278	c.19191A>G	c.(19189-19191)agA>agG	p.R6397R	MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000564288.1_Silent_p.R6498R|MACF1_ENST00000545844.1_Silent_p.R4439R|MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000361689.2_Silent_p.R4439R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6397					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAAGGGCAGACTCATGCTTC	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(19492-19494)agA>agG		microtubule-actin crosslinking factor 1							101.0	93.0	95.0					1																	39910396		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39910396A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19191A>G	1.37:g.39910396A>G						MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000545844.1_Silent_p.R4439R|MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000372915.3_Silent_p.R6397R|MACF1_ENST00000361689.2_Silent_p.R4439R	p.R6498R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		80	20271	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6508					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.19494A>G		.	.	.	.	.	.	.	.	.	.	A	10.48	1.362540	0.24684	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.16	1.01	0.19927	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	9.8307	0.40939	0.3494:0.0:0.6506:0.0	.	.	.	.	A	3443	.	.	T	+	1	0	MACF1	39682983	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	0.996000	0.29719	-0.059000	0.13154	-0.248000	0.11899	ACT		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		29	219	0	0	0	1	0	29	219				
SCN4B	6330	broad.mit.edu	37	11	118015933	118015933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118015933G>A	ENST00000324727.4	-	2	219	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	25					AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTACGGGGAGCAGGAAGAGG	0.607											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324727.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(73-75)Ctc>Ttc		sodium channel, voltage-gated, type IV, beta subunit							93.0	82.0	86.0					11																	118015933		2200	4296	6496	SO:0001583	missense	6330					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118015933G>A	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.73C>T	11.37:g.118015933G>A	ENSP00000322460:p.Leu25Phe		OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	SCN4B_ENST00000529878.1_Intron	p.L25F	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	2	219	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	25					E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	37	c.73C>T	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.036964	0.19669	.	.	ENSG00000177098	ENST00000324727	D	0.97976	-4.64	5.26	0.672	0.17935	.	0.656184	0.14631	N	0.307802	D	0.92522	0.7625	L	0.35723	1.085	0.23798	N	0.996815	B	0.06786	0.001	B	0.06405	0.002	T	0.81810	-0.0762	10	0.11794	T	0.64	-22.7509	3.3839	0.07264	0.117:0.4645:0.2591:0.1595	.	25	Q8IWT1	SCN4B_HUMAN	F	25	ENSP00000322460:L25F	ENSP00000322460:L25F	L	-	1	0	SCN4B	117521143	0.997000	0.39634	0.956000	0.39512	0.350000	0.29205	0.501000	0.22578	0.592000	0.29728	-0.175000	0.13238	CTC		0.607	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1			68	296	0	0	0	1	0	68	296				
COL19A1	1310	broad.mit.edu	37	6	70866246	70866246	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70866246A>G	ENST00000322773.4	+	33	2325	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	COL19A1_ENST00000393344.1_Silent_p.G363G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	741	Collagen-like 7.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATCCCAGGAAGAGAGGGAC	0.458																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2221-2223)ggA>ggG		collagen, type XIX, alpha 1							96.0	96.0	96.0					6																	70866246		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866246A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2223A>G	6.37:g.70866246A>G						COL19A1_ENST00000393344.1_Silent_p.G363G	p.G741G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			33	2325	+			741			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.2223A>G	CCDS4970.1																																																																																				0.458	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			69	328	0	0	0	1	0	69	328				
GAS2	2620	broad.mit.edu	37	11	22747968	22747968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22747968C>T	ENST00000454584.2	+	4	703	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GAS2_ENST00000433790.1_Missense_Mutation_p.S133L|GAS2_ENST00000278187.3_Missense_Mutation_p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	133	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTATTTGAATCGGAAGGTTTG	0.383																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(397-399)tCg>tTg		growth arrest-specific 2							143.0	148.0	146.0					11																	22747968		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22747968C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.398C>T	11.37:g.22747968C>T	ENSP00000401145:p.Ser133Leu					GAS2_ENST00000433790.1_Missense_Mutation_p.S133L|GAS2_ENST00000278187.3_Missense_Mutation_p.S133L	p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			4	703	+			133			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.398C>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131593	0.56828	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;T;D;D;D;D	0.94537	-3.45;-3.45;0.99;-3.45;-3.45;-3.45;-3.45	5.74	4.83	0.62350	Calponin homology domain (5);	0.131423	0.53938	D	0.000051	D	0.97526	0.9190	M	0.91140	3.18	0.58432	D	0.999995	D	0.67145	0.996	P	0.62491	0.903	D	0.98276	1.0506	10	0.72032	D	0.01	-10.6063	16.8958	0.86100	0.0:0.8719:0.1281:0.0	.	133	O43903	GAS2_HUMAN	L	133	ENSP00000432584:S133L;ENSP00000401145:S133L;ENSP00000434478:S133L;ENSP00000278187:S133L;ENSP00000433182:S133L;ENSP00000435946:S133L;ENSP00000396708:S133L	ENSP00000278187:S133L	S	+	2	0	GAS2	22704544	1.000000	0.71417	0.893000	0.35052	0.053000	0.15095	7.818000	0.86416	1.422000	0.47177	-0.172000	0.13284	TCG		0.383	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		84	372	0	0	0	1	0	84	372				
TRANK1	9881	broad.mit.edu	37	3	36897105	36897105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897105C>T	ENST00000429976.2	-	12	4223	c.3976G>A	c.(3976-3978)Gaa>Aaa	p.E1326K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E776K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E776K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1326							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TATACTTCTTCAGTGAGTCTC	0.458																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3976-3978)Gaa>Aaa		tetratricopeptide repeat and ankyrin repeat containing 1							88.0	87.0	87.0					3																	36897105		1825	4076	5901	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897105C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3976G>A	3.37:g.36897105C>T	ENSP00000416168:p.Glu1326Lys					TRANK1_ENST00000428977.2_Missense_Mutation_p.E776K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E776K	p.E1326K			O15050	TRNK1_HUMAN			12	4223	-			1326					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3976G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602149	0.66445	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29917	1.55;1.96;1.55	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	T	0.39627	0.1085	N	0.25789	0.76	0.42064	D	0.991171	P	0.51791	0.948	P	0.56163	0.793	T	0.10132	-1.0643	10	0.44086	T	0.13	.	19.6889	0.95989	0.0:1.0:0.0:0.0	.	1326	O15050	TRNK1_HUMAN	K	776;1326;776	ENSP00000416826:E776K;ENSP00000416168:E1326K;ENSP00000301807:E776K	ENSP00000301807:E776K	E	-	1	0	TRANK1	36872109	0.994000	0.37717	0.994000	0.49952	0.987000	0.75469	3.224000	0.51238	2.735000	0.93741	0.561000	0.74099	GAA		0.458	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		19	588	0	0	0	1	0	19	588				
FASN	2194	broad.mit.edu	37	17	80039903	80039903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039903G>A	ENST00000306749.2	-	36	6363	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2049	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTTCGTGCCGGCGTTTCTCA	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(6145-6147)Cgg>Tgg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						63.0	64.0	63.0					17																	80039903		2203	4300	6503	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80039903G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6145C>T	17.37:g.80039903G>A	ENSP00000304592:p.Arg2049Trp					FASN_ENST00000579758.1_5'UTR	p.R2049W	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		36	6363	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2049			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.6145C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759417	0.49468	.	.	ENSG00000169710	ENST00000306749	T	0.48522	0.81	4.77	-0.811	0.10857	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.332110	0.26642	N	0.023248	T	0.69913	0.3164	M	0.91354	3.2	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.69548	-0.5116	10	0.59425	D	0.04	-29.0112	15.7178	0.77681	0.0:0.0:0.4513:0.5487	.	2049	P49327	FAS_HUMAN	W	2049	ENSP00000304592:R2049W	ENSP00000304592:R2049W	R	-	1	2	FASN	77633192	0.011000	0.17503	0.515000	0.27774	0.624000	0.37722	1.416000	0.34759	0.039000	0.15632	0.313000	0.20887	CGG		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		57	213	0	0	0	1	0	57	213				
PTPRF	5792	broad.mit.edu	37	1	44085236	44085236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44085236G>A	ENST00000359947.4	+	28	5264	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1642	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGGAGCTCGAGTTCAAGGT	0.652																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(4924-4926)Gag>Aag		protein tyrosine phosphatase, receptor type, F							41.0	44.0	43.0					1																	44085236		2203	4299	6502	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44085236G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4924G>A	1.37:g.44085236G>A	ENSP00000353030:p.Glu1642Lys					PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K	p.E1642K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			28	5264	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1642			Tyrosine-protein phosphatase 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4924G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.252917|4.252917	0.80135|0.80135	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.	0.17213|.	2.29;2.29;2.29;2.29;2.29;2.29|.	4.87|4.87	4.87|4.87	0.63330|0.63330	Protein-tyrosine phosphatase, receptor/non-receptor type (2);|.	0.000000|.	0.34750|.	N|.	0.003720|.	D|D	0.88043|0.88043	0.6331|0.6331	H|H	0.96048|0.96048	3.76|3.76	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|.	0.83275|.	0.986;0.995;0.995;0.993;0.996|.	D|D	0.91784|0.91784	0.5438|0.5438	10|5	0.87932|.	D|.	0|.	.|.	18.895|18.895	0.92420|0.92420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1287;1001;1219;1633;1642|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	K|Q	1642;1633;1642;1633;1001;714|1025;1066	ENSP00000353030:E1642K;ENSP00000398822:E1633K;ENSP00000361491:E1642K;ENSP00000361490:E1633K;ENSP00000387885:E1001K;ENSP00000361484:E714K|.	ENSP00000353030:E1642K|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43857823|43857823	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.588000|0.588000	0.36517|0.36517	9.807000|9.807000	0.99171|0.99171	2.629000|2.629000	0.89072|0.89072	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.652	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			39	248	0	0	0	1	0	39	248				
RBM47	54502	broad.mit.edu	37	4	40440520	40440520	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440520G>T	ENST00000381793.2	-	3	787	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	RBM47_ENST00000514014.1_Missense_Mutation_p.L93I|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000319592.4_Missense_Mutation_p.L131I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	131	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGTTGTTGAGCTCACGCACT	0.627																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(391-393)Ctc>Atc		RNA binding motif protein 47							57.0	48.0	51.0					4																	40440520		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440520G>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.391C>A	4.37:g.40440520G>T	ENSP00000371212:p.Leu131Ile					RBM47_ENST00000381793.2_Missense_Mutation_p.L131I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I|RBM47_ENST00000514014.1_Missense_Mutation_p.L93I	p.L131I			A0AV96	RBM47_HUMAN			4	1100	-			131			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.391C>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219834	0.79464	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.57436	1.75;0.4;1.75;0.4;0.4;1.75;0.4;0.4;0.4	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.65975	2.015	0.80722	D	1	D;P	0.61697	0.99;0.933	D;D	0.72982	0.979;0.928	T	0.73414	-0.3990	10	0.59425	D	0.04	-25.2838	19.2511	0.93926	0.0:0.0:1.0:0.0	.	131;131	A0AV96-2;A0AV96	.;RBM47_HUMAN	I	131;131;131;131;93;131;131;131;131	ENSP00000320108:L131I;ENSP00000371212:L131I;ENSP00000371214:L131I;ENSP00000295971:L131I;ENSP00000423243:L93I;ENSP00000422564:L131I;ENSP00000421589:L131I;ENSP00000423527:L131I;ENSP00000426542:L131I	ENSP00000295971:L131I	L	-	1	0	RBM47	40135277	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.888000	0.87302	2.554000	0.86153	0.313000	0.20887	CTC		0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		25	343	1	0	2.98393e-07	1	3.0958e-07	25	343				
KIAA2026	158358	broad.mit.edu	37	9	6007544	6007544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6007544C>A	ENST00000399933.3	-	1	243	c.244G>T	c.(244-246)Ggc>Tgc	p.G82C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	82										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCGGTAGCCCTGCTGTAGC	0.662																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(244-246)Ggc>Tgc		KIAA2026							28.0	35.0	33.0					9																	6007544		2080	4209	6289	SO:0001583	missense	158358							g.chr9:6007544C>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.244G>T	9.37:g.6007544C>A	ENSP00000382815:p.Gly82Cys					KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C	p.G82C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	243	-		Acute lymphoblastic leukemia(23;0.158)	82					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.244G>T		.	.	.	.	.	.	.	.	.	.	C	19.04	3.749993	0.69533	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.24	4.24	0.50183	Bromodomain (1);	.	.	.	.	T	0.53029	0.1771	N	0.12746	0.255	0.41630	D	0.989012	D	0.89917	1.0	D	0.72075	0.976	T	0.54410	-0.8298	8	0.27785	T	0.31	.	15.1706	0.72869	0.0:1.0:0.0:0.0	.	82	Q5HYC2	K2026_HUMAN	C	82	.	ENSP00000370870:G82C	G	-	1	0	KIAA2026	5997544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.097000	0.64542	2.081000	0.62600	0.491000	0.48974	GGC		0.662	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		29	158	1	0	9.39395e-14	1	1.01619e-13	29	158				
ADSSL1	122622	broad.mit.edu	37	14	105208312	105208312	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105208312C>T	ENST00000330877.2	+	9	1006	c.921C>T	c.(919-921)atC>atT	p.I307I	ADSSL1_ENST00000332972.5_Silent_p.I350I	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GTGTGGGCATCGGGGCCTTCC	0.682																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1048-1050)atC>atT		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						144.0	119.0	127.0					14																	105208312		2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105208312C>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.921C>T	14.37:g.105208312C>T						ADSSL1_ENST00000330877.2_Silent_p.I307I	p.I350I	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	9	1209	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	307						Silent	SNP	ENST00000330877.2	37	c.1050C>T	CCDS9990.1																																																																																				0.682	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			146	682	0	0	0	1	0	146	682				
DMD	1756	broad.mit.edu	37	X	32834629	32834629	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32834629G>T	ENST00000357033.4	-	6	692	c.486C>A	c.(484-486)agC>agA	p.S162R	DMD_ENST00000378677.2_Missense_Mutation_p.S158R|DMD_ENST00000288447.4_Missense_Mutation_p.S154R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	162	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATCAGACCAGCTGGTGGTGA	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(484-486)agC>agA		dystrophin							147.0	126.0	133.0					X																	32834629		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32834629G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.486C>A	X.37:g.32834629G>T	ENSP00000354923:p.Ser162Arg					DMD_ENST00000288447.4_Missense_Mutation_p.S154R|DMD_ENST00000378677.2_Missense_Mutation_p.S158R	p.S162R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			6	692	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	162			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.486C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740766	0.69304	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95342	-3.68;-3.68;-3.68	5.51	3.75	0.43078	Calponin homology domain (5);	0.000000	0.44285	U	0.000464	D	0.97873	0.9301	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.999;1.0;0.998;1.0	P;D;D;D;D	0.91635	0.89;0.959;0.999;0.977;0.999	D	0.96914	0.9669	10	0.87932	D	0	.	9.1509	0.36962	0.2268:0.0:0.7732:0.0	.	162;154;154;162;158	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	R	154;158;162;162;39;154	ENSP00000367948:S158R;ENSP00000354923:S162R;ENSP00000288447:S154R	ENSP00000288447:S154R	S	-	3	2	DMD	32744550	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.819000	0.69243	0.515000	0.28320	-0.912000	0.02778	AGC		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		123	299	1	0	5.38838e-72	1	6.85269e-72	123	299				
EIF2AK3	9451	broad.mit.edu	37	2	88857381	88857381	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88857381G>T	ENST00000303236.3	-	17	3525	c.3224C>A	c.(3223-3225)gCt>gAt	p.A1075D	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A924D|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1075	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CTCAAATACAGCATTTTCAAT	0.413																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(3223-3225)gCt>gAt		eukaryotic translation initiation factor 2-alpha kinase 3							197.0	190.0	193.0					2																	88857381		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88857381G>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3224C>A	2.37:g.88857381G>T	ENSP00000307235:p.Ala1075Asp					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A924D|AC104134.2_ENST00000413234.1_RNA	p.A1075D	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			17	3525	-			1075			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.3224C>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505624	0.64410	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73897	2.11;2.11;-0.79	5.65	5.65	0.86999	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.251518	0.39909	N	0.001238	T	0.57902	0.2085	N	0.08118	0	0.45791	D	0.998673	B	0.15930	0.015	B	0.12156	0.007	T	0.53143	-0.8480	10	0.15952	T	0.53	-9.8721	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1075	Q9NZJ5	E2AK3_HUMAN	D	924;1075;924;954	ENSP00000408325:A924D;ENSP00000307235:A1075D;ENSP00000412076:A954D	ENSP00000307235:A1075D	A	-	2	0	EIF2AK3	88638496	1.000000	0.71417	0.185000	0.23176	0.697000	0.40408	7.825000	0.86693	2.824000	0.97209	0.655000	0.94253	GCT		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		19	759	1	0	6.49762e-13	1	6.99513e-13	19	759				
FDXR	2232	broad.mit.edu	37	17	72862343	72862343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72862343C>T	ENST00000293195.5	-	5	495	c.417G>A	c.(415-417)cgG>cgA	p.R139R	FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000413947.2_Silent_p.R170R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000442102.2_Silent_p.R182R|FDXR_ENST00000455107.2_Silent_p.R95R	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	139					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TTTCCAGGGCCCGATGGTCCT	0.647																																						ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(283-285)cgG>cgA		ferredoxin reductase							42.0	48.0	46.0					17																	72862343		2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72862343C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.417G>A	17.37:g.72862343C>T						FDXR_ENST00000293195.5_Silent_p.R139R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000442102.2_Silent_p.R182R|FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000413947.2_Silent_p.R170R	p.R95R			P22570	ADRO_HUMAN			6	701	-	all_lung(278;0.172)|Lung NSC(278;0.207)		139					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.285G>A	CCDS58593.1																																																																																				0.647	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		57	303	0	0	0	1	0	57	303				
PRKDC	5591	broad.mit.edu	37	8	48691355	48691355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691355G>A	ENST00000314191.2	-	83	11638	c.11582C>T	c.(11581-11583)gCt>gTt	p.A3861V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3862	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGTACGATTAGCGCCCCTATG	0.318								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11581-11583)gCt>gTt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							36.0	33.0	34.0					8																	48691355		1820	4071	5891	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48691355G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11582C>T	8.37:g.48691355G>A	ENSP00000313420:p.Ala3861Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V|PRKDC_ENST00000523565.1_5'UTR	p.A3861V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			83	11638	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3862			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11582C>T		.	.	.	.	.	.	.	.	.	.	G	18.83	3.706628	0.68615	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.76186	4.23;-1.0	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.105878	0.64402	D	0.000004	T	0.77438	0.4130	L	0.56396	1.775	0.80722	D	1	P;P	0.42010	0.639;0.768	B;P	0.46172	0.407;0.506	T	0.79137	-0.1927	10	0.54805	T	0.06	.	17.203	0.86911	0.0:0.0:1.0:0.0	.	3830;3862	E7EUY0;P78527	.;PRKDC_HUMAN	V	3861;3830	ENSP00000313420:A3861V;ENSP00000345182:A3830V	ENSP00000313420:A3861V	A	-	2	0	PRKDC	48853908	1.000000	0.71417	0.814000	0.32528	0.199000	0.23934	7.936000	0.87665	2.487000	0.83934	0.561000	0.74099	GCT		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	83	0	0	0	1	0	10	83				
SCN9A	6335	broad.mit.edu	37	2	167163471	167163471	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167163471T>C	ENST00000409435.1	-	2	371	c.372A>G	c.(370-372)gtA>gtG	p.V124V	SCN9A_ENST00000303354.6_Silent_p.V124V|SCN9A_ENST00000375387.4_Silent_p.V124V|SCN9A_ENST00000409672.1_Silent_p.V124V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	124					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATATGAGTGTACTAAAATCT	0.313																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(370-372)gtA>gtG		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						50.0	48.0	49.0					2																	167163471		1809	4072	5881	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167163471T>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.372A>G	2.37:g.167163471T>C						SCN9A_ENST00000303354.6_Silent_p.V124V|SCN9A_ENST00000409672.1_Silent_p.V124V|SCN9A_ENST00000409435.1_Silent_p.V124V	p.V124V			Q15858	SCN9A_HUMAN			3	712	-			124					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.372A>G	CCDS46441.1																																																																																				0.313	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		29	66	0	0	0	1	0	29	66				
COL6A3	1293	broad.mit.edu	37	2	238249523	238249523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238249523C>T	ENST00000295550.4	-	38	8488	c.8036G>A	c.(8035-8037)aGc>aAc	p.S2679N	COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2679	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGGCATGCTGGCATTGTC	0.582																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8035-8037)aGc>aAc		collagen, type VI, alpha 3							85.0	79.0	81.0					2																	238249523		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249523C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8036G>A	2.37:g.238249523C>T	ENSP00000295550:p.Ser2679Asn					COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N	p.S2679N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8488	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2679			Nonhelical region.|VWFA 12.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8036G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	4.441	0.081634	0.08533	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88586	-2.4;-2.39;-2.37;-2.37;-2.37;-2.36	5.16	5.16	0.70880	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.92821	0.7717	L	0.55481	1.735	0.41280	D	0.986903	D;D;D	0.76494	0.997;0.996;0.999	D;P;D	0.85130	0.939;0.899;0.997	D	0.90740	0.4649	10	0.25106	T	0.35	.	19.0071	0.92856	0.0:1.0:0.0:0.0	.	2072;2473;2679	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2679;2478;2473;2072;2473;2479	ENSP00000295550:S2679N;ENSP00000315609:S2478N;ENSP00000315873:S2473N;ENSP00000418285:S2072N;ENSP00000386844:S2473N;ENSP00000295546:S2479N	ENSP00000295550:S2679N	S	-	2	0	COL6A3	237914262	0.985000	0.35326	0.653000	0.29593	0.037000	0.13140	2.573000	0.46007	2.536000	0.85505	0.655000	0.94253	AGC		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		62	289	0	0	0	1	0	62	289				
CCDC7	79741	broad.mit.edu	37	10	32983848	32983848	+	Nonsense_Mutation	SNP	C	C	T	rs556688742		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32983848C>T	ENST00000375030.2	+	9	949	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*|C10orf68_ENST00000375028.3_Intron			Q9H943	CJ068_HUMAN		103										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GCTTGAACATCAAGATTCAGT	0.318																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(331-333)Caa>Taa		chromosome 10 open reading frame 68							46.0	45.0	45.0					10																	32983848		2201	4298	6499	SO:0001587	stop_gained	79741							g.chr10:32983848C>T																												ENST00000375030.2:c.331C>T	10.37:g.32983848C>T	ENSP00000364170:p.Gln111*					C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*|C10orf68_ENST00000375028.3_Intron	p.Q111*			Q9H943	CJ068_HUMAN			9	949	+			103					B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	ENST00000375030.2	37	c.331C>T		.	.	.	.	.	.	.	.	.	.	.	21.5	4.154936	0.78114	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375025	.	.	.	2.91	-0.495	0.12030	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	5.0702	0.14602	0.4208:0.3728:0.2064:0.0	.	.	.	.	X	103;111;103	.	ENSP00000303710:Q103X	Q	+	1	0	C10orf68	33023854	0.014000	0.17966	0.001000	0.08648	0.028000	0.11728	0.956000	0.29202	-0.100000	0.12241	0.467000	0.42956	CAA		0.318	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			24	107	0	0	0	1	0	24	107				
WDR5B	54554	broad.mit.edu	37	3	122134224	122134224	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122134224G>T	ENST00000330689.4	-	1	658	c.152C>A	c.(151-153)cCt>cAt	p.P51H	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	51										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTCTCCATTAGGACTAAACTT	0.413																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(151-153)cCt>cAt		WD repeat domain 5B							195.0	191.0	192.0					3																	122134224		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134224G>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.152C>A	3.37:g.122134224G>T	ENSP00000330381:p.Pro51His						p.P51H	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	658	-			51					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.152C>A	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934146	0.52866	.	.	ENSG00000196981	ENST00000330689	T	0.70516	-0.49	4.78	3.89	0.44902	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.78456	2.415	0.80722	D	1	P	0.40180	0.705	B	0.38921	0.285	T	0.75528	-0.3286	10	0.72032	D	0.01	.	12.3839	0.55322	0.0:0.0:0.8302:0.1698	.	51	Q86VZ2	WDR5B_HUMAN	H	51	ENSP00000330381:P51H	ENSP00000330381:P51H	P	-	2	0	WDR5B	123616914	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.334000	0.90028	1.354000	0.45846	-0.311000	0.09066	CCT		0.413	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		185	923	1	0	1.73262e-47	1	2.13312e-47	185	923				
AMER3	205147	broad.mit.edu	37	2	131521183	131521183	+	Missense_Mutation	SNP	G	G	A	rs373842884		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131521183G>A	ENST00000423981.1	+	2	1648	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	AMER3_ENST00000321420.4_Missense_Mutation_p.R513H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	513					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R513H(1)									AGCTGGCTGCGCCGAGGCCCC	0.682																																						ENST00000423981.1																			1	Substitution - Missense(1)	p.R513H(1)	pancreas(1)								c.(1537-1539)cGc>cAc		APC membrane recruitment protein 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4346		0,2,2172	9.0	8.0	9.0		1538,1538,1538,1538	4.7	1.0	2		9	0,8508		0,0,4254	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	29,29,29,29	0,2,6426	AA,AG,GG		0.0,0.046,0.0156	probably-damaging,probably-damaging,probably-damaging,probably-damaging	513/862,513/862,513/862,513/862	131521183	2,12854	2174	4254	6428	SO:0001583	missense	205147							g.chr2:131521183G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1538G>A	2.37:g.131521183G>A	ENSP00000392700:p.Arg513His					AMER3_ENST00000321420.4_Missense_Mutation_p.R513H	p.R513H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1648	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1538G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090372	0.55968	4.6E-4	0.0	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.64438	-0.1;-0.1	4.69	4.69	0.59074	.	0.000000	0.46442	D	0.000285	T	0.69342	0.3100	L	0.32530	0.975	0.33169	D	0.548037	D	0.89917	1.0	D	0.68943	0.961	T	0.77965	-0.2389	10	0.72032	D	0.01	.	15.4857	0.75564	0.0:0.0:1.0:0.0	.	513	Q8N944	F123C_HUMAN	H	513	ENSP00000314914:R513H;ENSP00000392700:R513H	ENSP00000314914:R513H	R	+	2	0	FAM123C	131237653	1.000000	0.71417	0.985000	0.45067	0.441000	0.31987	5.054000	0.64275	2.330000	0.79161	0.561000	0.74099	CGC		0.682	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		15	57	0	0	0	1	0	15	57				
NTM	50863	broad.mit.edu	37	11	132016258	132016258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132016258C>A	ENST00000374786.1	+	2	729	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	NTM_ENST00000427481.2_Missense_Mutation_p.L75M|NTM_ENST00000374784.1_Missense_Mutation_p.L84M|NTM_ENST00000539799.1_Missense_Mutation_p.L84M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M|NTM_ENST00000425719.2_Missense_Mutation_p.L84M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	84	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAAGTGGTGCCTGGATCCTCG	0.572																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(250-252)Ctg>Atg		neurotrimin							181.0	132.0	149.0					11																	132016258		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016258C>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.250C>A	11.37:g.132016258C>A	ENSP00000363918:p.Leu84Met					NTM_ENST00000539799.1_Missense_Mutation_p.L84M|NTM_ENST00000425719.2_Missense_Mutation_p.L84M|NTM_ENST00000427481.2_Missense_Mutation_p.L75M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M|NTM_ENST00000374784.1_Missense_Mutation_p.L84M	p.L84M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			2	729	+			84			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.250C>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850630	0.71719	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075430	0.56097	D	0.000033	T	0.45377	0.1339	L	0.55213	1.73	0.51767	D	0.999936	D;P;P;P;P;P	0.56968	0.978;0.956;0.599;0.915;0.823;0.752	D;D;P;D;P;P	0.67382	0.951;0.913;0.8;0.913;0.805;0.8	T	0.31420	-0.9944	10	0.42905	T	0.14	-12.2888	8.5217	0.33279	0.1541:0.7641:0.0:0.0818	.	84;75;84;84;84;84	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	84;84;75;75;84;84;84	ENSP00000363923:L84M;ENSP00000437668:L84M;ENSP00000448104:L75M;ENSP00000416320:L75M;ENSP00000363918:L84M;ENSP00000396722:L84M;ENSP00000363916:L84M	ENSP00000363916:L84M	L	+	1	2	NTM	131521468	0.257000	0.24022	1.000000	0.80357	0.999000	0.98932	0.348000	0.20031	2.691000	0.91804	0.655000	0.94253	CTG		0.572	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		7	352	1	0	8.12818e-05	1	8.2724e-05	7	352				
TOPORS	10210	broad.mit.edu	37	9	32543588	32543588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32543588C>A	ENST00000360538.2	-	3	1051	c.935G>T	c.(934-936)gGa>gTa	p.G312V	TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	312	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACTAAAGATCCATGAGCTCC	0.378																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(934-936)gGa>gTa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							56.0	54.0	54.0					9																	32543588		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543588C>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.935G>T	9.37:g.32543588C>A	ENSP00000353735:p.Gly312Val					TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	p.G312V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1051	-			312			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.935G>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127595	0.37533	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17691	2.26;2.27	5.93	5.93	0.95920	.	0.000000	0.49916	D	0.000133	T	0.43787	0.1263	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15578	-1.0432	10	0.72032	D	0.01	-38.8045	19.1082	0.93305	0.0:1.0:0.0:0.0	.	312	Q9NS56	TOPRS_HUMAN	V	312;247	ENSP00000353735:G312V;ENSP00000369187:G247V	ENSP00000353735:G312V	G	-	2	0	TOPORS	32533588	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	4.654000	0.61469	2.805000	0.96524	0.655000	0.94253	GGA		0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		56	286	1	0	2.48909e-17	1	2.74552e-17	56	286				
CAPN3	825	broad.mit.edu	37	15	42695010	42695010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42695010C>T	ENST00000397163.3	+	13	1774	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y|CAPN3_ENST00000397204.4_5'Flank|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|CAPN3_ENST00000561817.1_5'Flank|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	519	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAACAAGCAGCACCTGCAGAA	0.612																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1555-1557)Cac>Tac		calpain 3, (p94)							99.0	75.0	83.0					15																	42695010		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42695010C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1555C>T	15.37:g.42695010C>T	ENSP00000380349:p.His519Tyr					CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y|RP11-164J13.1_ENST00000495723.1_RNA	p.H519Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	13	1774	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	519			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1555C>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538072	0.85917	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.93360	0.7883	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.996;0.999;0.999;0.993	D;D;D;D;D;D	0.72338	0.961;0.961;0.935;0.962;0.977;0.952	D	0.94129	0.7386	10	0.87932	D	0	.	18.1939	0.89814	0.0:1.0:0.0:0.0	.	384;432;471;519;519;432	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	Y	432;7;519;519;471;519;7	ENSP00000348667:H432Y;ENSP00000380349:H519Y;ENSP00000350181:H519Y;ENSP00000183936:H471Y;ENSP00000326281:H519Y;ENSP00000380384:H7Y	ENSP00000326281:H519Y	H	+	1	0	CAPN3	40482302	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.584000	0.82572	2.527000	0.85204	0.455000	0.32223	CAC		0.612	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			50	284	0	0	0	1	0	50	284				
DCHS1	8642	broad.mit.edu	37	11	6651110	6651110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651110C>T	ENST00000299441.3	-	11	5239	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1610	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCGTTGTTCGCGGTCCAAC	0.657																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(4828-4830)Gaa>Aaa		dachsous cadherin-related 1							46.0	46.0	46.0					11																	6651110		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651110C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4828G>A	11.37:g.6651110C>T	ENSP00000299441:p.Glu1610Lys						p.E1610K	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5239	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1610			Cadherin 15.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.4828G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338642	0.81911	.	.	ENSG00000166341	ENST00000299441	T	0.72394	-0.65	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000161	D	0.88654	0.6495	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91215	0.5002	10	0.62326	D	0.03	.	17.6847	0.88253	0.0:1.0:0.0:0.0	.	1610	Q96JQ0	PCD16_HUMAN	K	1610	ENSP00000299441:E1610K	ENSP00000299441:E1610K	E	-	1	0	DCHS1	6607686	1.000000	0.71417	0.778000	0.31720	0.149000	0.21700	5.937000	0.70162	2.668000	0.90789	0.563000	0.77884	GAA		0.657	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		73	274	0	0	0	1	0	73	274				
LTF	4057	broad.mit.edu	37	3	46488808	46488808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46488808C>T	ENST00000231751.4	-	10	1589	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LTF_ENST00000426532.2_Missense_Mutation_p.E388K|LTF_ENST00000417439.1_Missense_Mutation_p.E430K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	432	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CTGTAGTTCTCTGCCAGGACA	0.483																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1294-1296)Gag>Aag		lactotransferrin	Pefloxacin(DB00487)						220.0	187.0	198.0					3																	46488808		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46488808C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1294G>A	3.37:g.46488808C>T	ENSP00000231751:p.Glu432Lys					LTF_ENST00000426532.2_Missense_Mutation_p.E388K|LTF_ENST00000417439.1_Missense_Mutation_p.E430K	p.E432K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	10	1589	-			432			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1294G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963350	0.92791	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.76	4.76	0.60689	.	0.138561	0.64402	D	0.000004	T	0.79604	0.4474	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.86696	0.1926	10	0.87932	D	0	-21.1836	15.6781	0.77344	0.0:1.0:0.0:0.0	.	430;419;432	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	432;388;430;419	ENSP00000231751:E432K;ENSP00000405719:E388K;ENSP00000405546:E430K;ENSP00000397427:E419K	ENSP00000231751:E432K	E	-	1	0	LTF	46463812	1.000000	0.71417	0.955000	0.39395	0.988000	0.76386	6.634000	0.74290	2.646000	0.89796	0.563000	0.77884	GAG		0.483	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		97	499	0	0	0	1	0	97	499				
FOXG1	2290	broad.mit.edu	37	14	29236501	29236501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236501G>A	ENST00000313071.4	+	1	215	c.16G>A	c.(16-18)Gat>Aat	p.D6N	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.D6N|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	6					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGACATGGGAGATAGGAAAGA	0.682																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(16-18)Gat>Aat		forkhead box G1							38.0	33.0	35.0					14																	29236501		2197	4294	6491	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29236501G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.16G>A	14.37:g.29236501G>A	ENSP00000339004:p.Asp6Asn					FOXG1_ENST00000313071.4_Missense_Mutation_p.D6N	p.D6N			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	385	+			6					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.16G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248073	0.59103	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94828	-3.53;-3.53	1.99	1.0	0.19881	.	.	.	.	.	D	0.89259	0.6664	L	0.27053	0.805	0.27461	N	0.953154	B	0.28026	0.198	B	0.29862	0.108	T	0.81780	-0.0776	9	0.72032	D	0.01	.	9.1221	0.36793	0.0:0.0:0.7789:0.2211	.	6	P55316	FOXG1_HUMAN	N	6	ENSP00000371975:D6N;ENSP00000339004:D6N	ENSP00000339004:D6N	D	+	1	0	FOXG1	28306252	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.340000	0.59328	0.129000	0.18514	-0.553000	0.04205	GAT		0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			7	51	0	0	0	1	0	7	51				
DPF1	8193	broad.mit.edu	37	19	38709239	38709239	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38709239T>G	ENST00000420980.2	-	5	597	c.571A>C	c.(571-573)Agg>Cgg	p.R191R	DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000416611.1_Silent_p.R165R|DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000414789.1_Silent_p.R109R	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	191					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCTTCCTCCTGGGAATGTCA	0.537																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(493-495)Agg>Cgg		D4, zinc and double PHD fingers family 1							182.0	122.0	142.0					19																	38709239		2203	4300	6503	SO:0001819	synonymous_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38709239T>G	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.571A>C	19.37:g.38709239T>G						DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000414789.1_Silent_p.R109R|DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000420980.2_Silent_p.R191R	p.R165R			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	616	-	all_cancers(60;1.24e-06)		191					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.493A>C	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266022	0.23136	.	.	ENSG00000011332	ENST00000355526	.	.	.	3.26	2.11	0.27256	.	.	.	.	.	T	0.56543	0.1992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	4	.	.	.	-5.6764	8.3732	0.32427	0.0:0.0:0.2754:0.7246	.	.	.	.	P	183	.	.	Q	-	2	0	DPF1	43401079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.946000	0.49050	1.478000	0.48253	0.383000	0.25322	CAG		0.537	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			52	287	0	0	0	1	0	52	287				
AXL	558	broad.mit.edu	37	19	41726632	41726632	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726632G>T	ENST00000301178.4	+	2	367	c.177G>T	c.(175-177)caG>caT	p.Q59H	AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Missense_Mutation_p.Q59H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	59	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCAGCTCCAGGTTCAGGGAG	0.642																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(175-177)caG>caT		AXL receptor tyrosine kinase							44.0	43.0	44.0					19																	41726632		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726632G>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.177G>T	19.37:g.41726632G>T	ENSP00000301178:p.Gln59His					AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.Q59H	p.Q59H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			2	367	+			59			Ig-like C2-type 1.|Interaction with GAS6.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.177G>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931823	0.34096	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.65178	-0.14;-0.14	4.59	1.04	0.20106	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.718192	0.12273	N	0.483641	T	0.48095	0.1481	L	0.49455	1.56	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.44128	-0.9348	10	0.49607	T	0.09	-1.9767	0.835	0.01138	0.2185:0.187:0.4017:0.1928	.	59;59	P30530-2;P30530	.;UFO_HUMAN	H	59	ENSP00000301178:Q59H;ENSP00000351995:Q59H	ENSP00000301178:Q59H	Q	+	3	2	AXL	46418472	0.998000	0.40836	0.959000	0.39883	0.795000	0.44927	1.722000	0.38042	0.544000	0.28883	0.386000	0.25728	CAG		0.642	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			27	125	1	0	4.59853e-10	1	4.86106e-10	27	125				
SCN2A	6326	broad.mit.edu	37	2	166231251	166231251	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231251T>G	ENST00000375437.2	+	22	4319	c.4029T>G	c.(4027-4029)gtT>gtG	p.V1343V	SCN2A_ENST00000357398.3_Silent_p.V1343V|SCN2A_ENST00000283256.6_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1343					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTTCTGGTTTGTCTGATCT	0.378																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4027-4029)gtT>gtG		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						162.0	153.0	156.0					2																	166231251		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231251T>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4029T>G	2.37:g.166231251T>G						SCN2A_ENST00000283256.6_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V|SCN2A_ENST00000357398.3_Silent_p.V1343V	p.V1343V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			22	4319	+			1343					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.4029T>G	CCDS33314.1																																																																																				0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		17	598	0	0	0	1	0	17	598				
KRT83	3889	broad.mit.edu	37	12	52715095	52715095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52715095C>T	ENST00000293670.3	-	1	87	c.25G>A	c.(25-27)Ggc>Agc	p.G9S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	9	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCCACAGCCTATGGAGTTG	0.627																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(25-27)Ggc>Agc		keratin 83							58.0	59.0	58.0					12																	52715095		2199	4298	6497	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52715095C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.25G>A	12.37:g.52715095C>T	ENSP00000293670:p.Gly9Ser						p.G9S	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	87	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		9			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.25G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545433	0.00926	.	.	ENSG00000170523	ENST00000293670	D	0.88354	-2.37	3.26	1.37	0.22104	.	.	.	.	.	T	0.68229	0.2978	N	0.04297	-0.235	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.57849	-0.7740	9	0.02654	T	1	.	2.928	0.05791	0.2924:0.4635:0.1483:0.0957	.	9	P78385	KRT83_HUMAN	S	9	ENSP00000293670:G9S	ENSP00000293670:G9S	G	-	1	0	KRT83	51001362	0.000000	0.05858	0.076000	0.20297	0.008000	0.06430	-0.283000	0.08433	0.221000	0.20879	-1.186000	0.01703	GGC		0.627	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		109	470	0	0	0	1	0	109	470				
PRSS58	136541	broad.mit.edu	37	7	141954930	141954930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141954930G>A	ENST00000552471.1	-	3	700	c.381C>T	c.(379-381)atC>atT	p.I127I	PRSS58_ENST00000547058.2_Silent_p.I127I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATTTTCAGAGATAGTTTGGT	0.403																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(379-381)atC>atT		protease, serine, 58							251.0	227.0	235.0					7																	141954930		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141954930G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.381C>T	7.37:g.141954930G>A						PRSS58_ENST00000547058.2_Silent_p.I127I	p.I127I			Q8IYP2	PRS58_HUMAN			3	700	-			127			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.381C>T	CCDS5871.1																																																																																				0.403	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		134	617	0	0	0	1	0	134	617				
MCMDC2	157777	broad.mit.edu	37	8	67789596	67789596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67789596C>A	ENST00000422365.2	+	5	469	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	MCMDC2_ENST00000541540.1_Missense_Mutation_p.L37M|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L100M|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L100M|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L100M	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	100					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TAATATAGTGCTGAAATTAAC	0.279																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(298-300)Ctg>Atg		minichromosome maintenance domain containing 2							64.0	61.0	62.0					8																	67789596		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67789596C>A	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.298C>A	8.37:g.67789596C>A	ENSP00000413632:p.Leu100Met					MCMDC2_ENST00000492775.1_Missense_Mutation_p.L100M|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L100M|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L100M|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L37M|MCMDC2_ENST00000469823.1_3'UTR	p.L100M	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			5	469	+			100					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.298C>A	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482776	0.63962	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.32988	3.54;3.54;3.54;3.54;1.43	4.93	4.05	0.47172	.	0.163747	0.41823	D	0.000806	T	0.51109	0.1655	M	0.64997	1.995	0.49798	D	0.999828	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.50874	-0.8776	10	0.48119	T	0.1	-3.1261	13.4441	0.61129	0.0:0.9233:0.0:0.0767	.	37;100;100;100	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	M	100;100;100;100;37	ENSP00000379837:L100M;ENSP00000413632:L100M;ENSP00000428037:L100M;ENSP00000317234:L100M;ENSP00000445629:L37M	ENSP00000317234:L100M	L	+	1	2	C8orf45	67952150	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.260000	0.43267	1.175000	0.42826	0.591000	0.81541	CTG		0.279	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		24	158	1	0	1.1804e-14	1	1.28451e-14	24	158				
LAMA5	3911	broad.mit.edu	37	20	60903983	60903983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60903983C>T	ENST00000252999.3	-	34	4430	c.4364G>A	c.(4363-4365)gGc>gAc	p.G1455D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1455	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGACACTGGCCCCCGAAGGG	0.627																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(4363-4365)gGc>gAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						49.0	51.0	50.0					20																	60903983		2202	4298	6500	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60903983C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4364G>A	20.37:g.60903983C>T	ENSP00000252999:p.Gly1455Asp						p.G1455D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		34	4430	-	Breast(26;1.57e-08)		1455			Laminin EGF-like 12.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4364G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515262	0.85389	.	.	ENSG00000130702	ENST00000252999	T	0.75589	-0.95	4.47	3.49	0.39957	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92980	0.6405	10	0.87932	D	0	.	13.4219	0.61003	0.1586:0.8414:0.0:0.0	.	1455	O15230	LAMA5_HUMAN	D	1455	ENSP00000252999:G1455D	ENSP00000252999:G1455D	G	-	2	0	LAMA5	60337378	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.245000	0.78237	0.794000	0.33899	0.455000	0.32223	GGC		0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		76	288	0	0	0	1	0	76	288				
RPL21	6144	broad.mit.edu	37	13	27829420	27829420	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27829420C>T	ENST00000311549.6	+	4	460	c.171C>T	c.(169-171)taC>taT	p.Y57Y	RPL21_ENST00000272274.4_Silent_p.Y57Y|SNORA27_ENST00000384323.1_RNA|SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000319826.4_Silent_p.Y57Y|RPL21_ENST00000326092.4_Silent_p.Y57Y	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	57					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		ACAAGTGTTACCATGGCAAAA	0.378																																						ENST00000311549.6																			0				large_intestine(1)|lung(1)	2						c.(169-171)taC>taT		ribosomal protein L21							83.0	86.0	85.0					13																	27829420		2203	4298	6501	SO:0001819	synonymous_variant	6144				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr13:27829420C>T	AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026		"""L ribosomal proteins"""	10313	protein-coding gene	gene with protein product	"""60S ribosomal protein L21"""	603636				3459254, 7772601	Standard	NM_000982		Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.171C>T	13.37:g.27829420C>T						RPL21_ENST00000326092.4_Silent_p.Y57Y|RPL21_ENST00000319826.4_Silent_p.Y57Y|RPL21_ENST00000272274.4_Silent_p.Y57Y	p.Y57Y	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)	4	460	+		Lung SC(185;0.0156)	57					Q16699	Silent	SNP	ENST00000311549.6	37	c.171C>T	CCDS9320.1																																																																																				0.378	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	NM_000982		66	256	0	0	0	1	0	66	256				
WDR41	55255	broad.mit.edu	37	5	76758930	76758930	+	Missense_Mutation	SNP	C	C	A	rs542320192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76758930C>A	ENST00000296679.4	-	4	713	c.338G>T	c.(337-339)aGa>aTa	p.R113I	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.R58I	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	113						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AATAACTGTTCTATCAGCAGA	0.383																																						ENST00000296679.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(337-339)aGa>aTa		WD repeat domain 41							89.0	89.0	89.0					5																	76758930		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76758930C>A	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.338G>T	5.37:g.76758930C>A	ENSP00000296679:p.Arg113Ile					WDR41_ENST00000507029.1_Missense_Mutation_p.R58I|WDR41_ENST00000414719.2_5'UTR	p.R113I	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	4	713	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	113					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.338G>T	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676484	0.67928	.	.	ENSG00000164253	ENST00000296679;ENST00000515253;ENST00000507029;ENST00000514559;ENST00000511036;ENST00000504895;ENST00000509971	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.81	0.884	0.19182	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.194541	0.53938	D	0.000045	T	0.74861	0.3772	M	0.93550	3.43	0.80722	D	1	P;D	0.55800	0.896;0.973	P;P	0.58210	0.603;0.835	T	0.75560	-0.3275	10	0.59425	D	0.04	-5.7762	9.5332	0.39207	0.0:0.5816:0.0:0.4184	.	58;113	B4DT55;Q9HAD4	.;WDR41_HUMAN	I	113;106;58;113;108;105;110	ENSP00000296679:R113I;ENSP00000426499:R106I;ENSP00000424287:R58I;ENSP00000426937:R113I;ENSP00000422510:R108I;ENSP00000426141:R105I;ENSP00000422922:R110I	ENSP00000296679:R113I	R	-	2	0	WDR41	76794686	0.999000	0.42202	0.709000	0.30452	0.972000	0.66771	0.551000	0.23361	-0.120000	0.11809	-0.312000	0.09012	AGA		0.383	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		34	161	1	0	4.62619e-21	1	5.20214e-21	34	161				
NOD2	64127	broad.mit.edu	37	16	50733613	50733613	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50733613T>C	ENST00000300589.2	+	2	393	c.288T>C	c.(286-288)ggT>ggC	p.G96G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	96	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAATAAGGGTACTTGGGCCT	0.657																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(286-288)ggT>ggC		nucleotide-binding oligomerization domain containing 2							36.0	40.0	39.0					16																	50733613		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733613T>C	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.288T>C	16.37:g.50733613T>C						NOD2_ENST00000526417.2_3'UTR	p.G96G	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			2	393	+		all_cancers(37;0.0156)	96			CARD 1.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.288T>C	CCDS10746.1																																																																																				0.657	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		16	382	0	0	0	1	0	16	382				
STEAP3	55240	broad.mit.edu	37	2	120003362	120003362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120003362C>T	ENST00000354888.5	+	3	794	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	97					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GAGCACTACTCTTCACTGTGC	0.572																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(289-291)tCt>tTt		STEAP family member 3, metalloreductase							82.0	70.0	74.0					2																	120003362		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003362C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.290C>T	2.37:g.120003362C>T	ENSP00000346961:p.Ser97Phe					STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F	p.S97F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			3	794	+			97					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.290C>T	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077011	0.55753	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.96	4.96	0.65561	NAD(P)-binding domain (1);	0.134765	0.51477	D	0.000091	T	0.62024	0.2394	M	0.78285	2.405	0.43118	D	0.994833	D;P;B	0.63880	0.993;0.952;0.296	D;P;B	0.64506	0.926;0.766;0.13	T	0.64373	-0.6423	9	.	.	.	-31.4585	13.1501	0.59484	0.0:0.8398:0.1602:0.0	.	97;107;97	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	F	97;97;97;107;97;97;97;97	ENSP00000376820:S97F;ENSP00000346961:S97F;ENSP00000396873:S97F;ENSP00000376822:S107F;ENSP00000376818:S97F;ENSP00000386510:S97F;ENSP00000376819:S97F;ENSP00000396214:S97F	.	S	+	2	0	STEAP3	119719832	0.999000	0.42202	0.986000	0.45419	0.631000	0.37964	3.669000	0.54561	2.576000	0.86940	0.655000	0.94253	TCT		0.572	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		63	148	0	0	0	1	0	63	148				
WNT2	7472	broad.mit.edu	37	7	116937921	116937921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937921G>A	ENST00000265441.3	-	4	897	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	200					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCAAGAACCGCTTTACAGCC	0.537																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(598-600)Cgg>Tgg		wingless-type MMTV integration site family member 2							78.0	75.0	76.0					7																	116937921		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937921G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.598C>T	7.37:g.116937921G>A	ENSP00000265441:p.Arg200Trp						p.R200W	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	897	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		200					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.598C>T	CCDS5771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.71|15.71	2.913108|2.913108	0.52439|0.52439	.|.	.|.	ENSG00000105989|ENSG00000105989	ENST00000491214|ENST00000265441	T|T	0.64085|0.76839	-0.08|-1.05	5.58|5.58	3.75|3.75	0.43078|0.43078	.|.	.|0.107593	.|0.64402	.|D	.|0.000004	D|D	0.89241|0.89241	0.6659|0.6659	M|M	0.89904|0.89904	3.07|3.07	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76071	.|0.987;0.987	D|D	0.90610|0.90610	0.4551|0.4551	7|10	0.87932|0.87932	D|D	0|0	.|.	13.2558|13.2558	0.60079|0.60079	0.0:0.0:0.5829:0.4171|0.0:0.0:0.5829:0.4171	.|.	.|200;200	.|A4D0V1;P09544	.|.;WNT2_HUMAN	V|W	107|200	ENSP00000419466:A107V|ENSP00000265441:R200W	ENSP00000419466:A107V|ENSP00000265441:R200W	A|R	-|-	2|1	0|2	WNT2|WNT2	116725157|116725157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.701000|4.701000	0.61810|0.61810	0.806000|0.806000	0.34183|0.34183	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.537	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		12	517	0	0	0	1	0	12	517				
NCOA2	10499	broad.mit.edu	37	8	71082518	71082518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71082518G>A	ENST00000452400.2	-	6	641	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	154	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGTTCATCAGCTCTTCTTGG	0.433			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(460-462)Ctg>Ttg		nuclear receptor coactivator 2							123.0	109.0	114.0					8																	71082518		1898	4129	6027	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71082518G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.460C>T	8.37:g.71082518G>A							p.L154L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		6	641	-	Breast(64;0.201)		154			PAS.		Q14CD2	Silent	SNP	ENST00000452400.2	37	c.460C>T	CCDS47872.1																																																																																				0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			4	90	0	0	0	1	0	4	90				
KIAA1462	57608	broad.mit.edu	37	10	30316752	30316752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316752C>T	ENST00000375377.1	-	3	2426	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	775					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTTTGGCGTCGGTGCCTGGT	0.637																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2323-2325)ccG>ccA		KIAA1462							54.0	58.0	57.0					10																	30316752		2081	4202	6283	SO:0001819	synonymous_variant	57608							g.chr10:30316752C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2325G>A	10.37:g.30316752C>T							p.P775P	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2426	-			775					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.2325G>A	CCDS41500.1																																																																																				0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		105	461	0	0	0	1	0	105	461				
CNBP	7555	broad.mit.edu	37	3	128890570	128890570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890570G>A	ENST00000422453.2	-	2	191	c.31C>T	c.(31-33)Cga>Tga	p.R11*	CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	11					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TGGCCAGATCGTCCACACTTG	0.463																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(31-33)Cga>Tga		CCHC-type zinc finger, nucleic acid binding protein							49.0	49.0	49.0					3																	128890570		2203	4300	6503	SO:0001587	stop_gained	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890570G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.31C>T	3.37:g.128890570G>A	ENSP00000410619:p.Arg11*					CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*	p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			2	191	-			11					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Nonsense_Mutation	SNP	ENST00000422453.2	37	c.31C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	37	6.241875	0.97403	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626;ENST00000512338	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6404	0.88135	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000410619:R11X	R	-	1	2	CNBP	130373260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.779000	0.95612	0.591000	0.81541	CGA		0.463	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		49	181	0	0	0	1	0	49	181				
LOC339874	339874	broad.mit.edu	37	3	131081097	131081097	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131081097A>G	ENST00000502521.1	-	0	239				NUDT16P_ENST00000499077.2_RNA|RP11-933H2.4_ENST00000513905.1_RNA	NR_038976.1																						GGACGGGCTGAACCGTGGTCT	0.657																																						ENST00000502521.1																			0																																																			0							g.chr3:131081097A>G																													3.37:g.131081097A>G						NUDT16P_ENST00000499077.2_RNA		NR_038976.1						0	239	-									RNA	SNP	ENST00000502521.1	37																																																																																						0.657	RP11-933H2.4-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000356585.3			7	26	0	0	0	1	0	7	26				
ANO4	121601	broad.mit.edu	37	12	101336210	101336210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101336210G>A	ENST00000392977.3	+	5	563	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	ANO4_ENST00000538618.1_Missense_Mutation_p.R284Q|ANO4_ENST00000392979.3_Missense_Mutation_p.R83Q|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	118					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R83L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAAAGTGTCGAATTGACTAC	0.378										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.R83L(1)	lung(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(247-249)cGa>cAa		anoctamin 4							139.0	142.0	141.0					12																	101336210		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101336210G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.353G>A	12.37:g.101336210G>A	ENSP00000376703:p.Arg118Gln	HNSCC(74;0.22)				ANO4_ENST00000538618.1_Missense_Mutation_p.R284Q|ANO4_ENST00000392977.3_Missense_Mutation_p.R118Q|ANO4_ENST00000299222.9_5'UTR	p.R83Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			4	609	+			118					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.248G>A		.	.	.	.	.	.	.	.	.	.	G	29.1	4.976990	0.92982	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.48201	0.82;0.82;0.82	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000005	T	0.63331	0.2502	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.961;0.997	T	0.58624	-0.7604	10	0.37606	T	0.19	.	19.6214	0.95658	0.0:0.0:1.0:0.0	.	118;83	Q32M45;Q32M45-2	ANO4_HUMAN;.	Q	284;83;118	ENSP00000443751:R284Q;ENSP00000376705:R83Q;ENSP00000376703:R118Q	ENSP00000376703:R118Q	R	+	2	0	ANO4	99860341	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.869000	0.75521	2.644000	0.89710	0.655000	0.94253	CGA		0.378	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		13	750	0	0	0	1	0	13	750				
PARP4	143	broad.mit.edu	37	13	25068788	25068788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068788G>A	ENST00000381989.3	-	7	769	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	222					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGTTTCTTCAGTTCTTCAATG	0.323																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(664-666)Ctg>Ttg		poly (ADP-ribose) polymerase family, member 4							150.0	147.0	148.0					13																	25068788		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25068788G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.664C>T	13.37:g.25068788G>A							p.L222L	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	7	769	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	222					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.664C>T	CCDS9307.1																																																																																				0.323	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		66	208	0	0	0	1	0	66	208				
TSHZ1	10194	broad.mit.edu	37	18	72999452	72999452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999452C>T	ENST00000580243.1	+	2	2438	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A652V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	697					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCCCTGAGGCCGAGACTGGG	0.557																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1954-1956)gCc>gTc		teashirt zinc finger homeobox 1							89.0	81.0	84.0					18																	72999452		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999452C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2090C>T	18.37:g.72999452C>T	ENSP00000464391:p.Ala697Val					TSHZ1_ENST00000580243.1_Missense_Mutation_p.A697V	p.A652V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2539	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	697					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1955C>T		.	.	.	.	.	.	.	.	.	.	C	0.444	-0.896895	0.02472	.	.	ENSG00000179981	ENST00000322038	T	0.37752	1.18	5.12	2.31	0.28768	.	1.288840	0.04943	N	0.458924	T	0.27454	0.0674	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55945	-0.8060	10	0.41790	T	0.15	-3.9715	10.0651	0.42299	0.0:0.7777:0.0:0.2223	.	697	Q6ZSZ6	TSH1_HUMAN	V	652	ENSP00000323584:A652V	ENSP00000323584:A652V	A	+	2	0	TSHZ1	71128440	0.012000	0.17670	0.000000	0.03702	0.064000	0.16182	1.052000	0.30429	-4.679000	0.00036	-1.982000	0.00454	GCC		0.557	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		7	269	0	0	0	1	0	7	269				
YY1AP1	55249	broad.mit.edu	37	1	155629498	155629498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155629498C>T	ENST00000295566.4	-	11	2364	c.2341G>A	c.(2341-2343)Gtc>Atc	p.V781I	YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|YY1AP1_ENST00000368340.5_Missense_Mutation_p.V853I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	781					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCATCTTGACAACTTCCTCT	0.512																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(2557-2559)Gtc>Atc		YY1 associated protein 1							120.0	128.0	125.0					1																	155629498		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155629498C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2341G>A	1.37:g.155629498C>T	ENSP00000295566:p.Val781Ile					YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|YY1AP1_ENST00000295566.4_Missense_Mutation_p.V781I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I	p.V853I	NM_001198904.1	NP_001185833.1					10	2665	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2557G>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084995	0.55861	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.32;1.32;1.39;1.32;1.32;1.3;1.34;1.32;1.39;1.39;1.24;1.4	2.57	2.57	0.30868	.	0.276715	0.30752	N	0.008956	T	0.42966	0.1226	M	0.62723	1.935	0.80722	D	1	B;D;P;D;D	0.69078	0.4;0.996;0.65;0.997;0.996	B;D;P;D;D	0.78314	0.257;0.987;0.558;0.991;0.987	T	0.43048	-0.9415	10	0.62326	D	0.03	.	10.1575	0.42831	0.0:1.0:0.0:0.0	.	873;715;781;735;853	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	I	724;735;704;735;724;853;781;735;704;715;873;581	ENSP00000352134:V724I;ENSP00000347686:V735I;ENSP00000311138:V704I;ENSP00000316079:V735I;ENSP00000355298:V724I;ENSP00000357324:V853I;ENSP00000295566:V781I;ENSP00000357314:V735I;ENSP00000385791:V704I;ENSP00000385390:V715I;ENSP00000357323:V873I;ENSP00000437926:V581I	ENSP00000295566:V781I	V	-	1	0	YY1AP1	153896122	0.411000	0.25384	0.565000	0.28409	0.057000	0.15508	1.943000	0.40253	1.424000	0.47217	0.313000	0.20887	GTC		0.512	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		114	710	0	0	0	1	0	114	710				
TENM3	55714	broad.mit.edu	37	4	183594220	183594220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183594220C>T	ENST00000511685.1	+	7	1297	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R392*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	392					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGATATTGGCCGAAGAGCAAT	0.388																																						ENST00000511685.1																			0											c.(1174-1176)Cga>Tga		teneurin transmembrane protein 3							41.0	39.0	39.0					4																	183594220		1808	4079	5887	SO:0001587	stop_gained	55714							g.chr4:183594220C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1174C>T	4.37:g.183594220C>T	ENSP00000424226:p.Arg392*					TENM3_ENST00000406950.2_Nonsense_Mutation_p.R392*	p.R392*							7	1297	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.1174C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	39	7.743866	0.98465	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0138	0.92886	0.0:1.0:0.0:0.0	.	.	.	.	X	392	.	ENSP00000385276:R392X	R	+	1	2	ODZ3	183831214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.583000	0.60964	2.789000	0.95967	0.650000	0.86243	CGA		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	68	0	0	0	1	0	12	68				
PCDHB1	29930	broad.mit.edu	37	5	140431091	140431091	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431091G>A	ENST00000306549.3	+	1	113	c.36G>A	c.(34-36)agG>agA	p.R12R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	12					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAAACAGGCAAGTGGGAT	0.493																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(34-36)agG>agA									73.0	75.0	75.0					5																	140431091		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431091G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.36G>A	5.37:g.140431091G>A							p.R12R	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	113	+			12					Q2M257	Silent	SNP	ENST00000306549.3	37	c.36G>A	CCDS4243.1																																																																																				0.493	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	285	0	0	0	1	0	6	285				
PPFIA1	8500	broad.mit.edu	37	11	70224261	70224261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70224261G>A	ENST00000253925.7	+	26	3725	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I|AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000524619.1_RNA|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1170					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTCTTCTATGTCTTCCCCCT	0.498																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(3508-3510)atG>atA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							144.0	129.0	134.0					11																	70224261		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70224261G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3510G>A	11.37:g.70224261G>A	ENSP00000253925:p.Met1170Ile					AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I	p.M1170I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		26	3725	+			1170					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.3510G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399360	0.25291	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528853	T;T	0.15952	2.39;2.38	4.72	4.72	0.59763	.	0.311546	0.33092	U	0.005294	T	0.14743	0.0356	L	0.27053	0.805	0.41837	D	0.990101	B;B;B	0.14012	0.009;0.0;0.006	B;B;B	0.17098	0.017;0.001;0.005	T	0.05835	-1.0861	10	0.31617	T	0.26	.	17.6892	0.88265	0.0:0.0:1.0:0.0	.	667;1170;1170	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	I	1170;1170;667;26	ENSP00000253925:M1170I;ENSP00000374198:M1170I	ENSP00000253925:M1170I	M	+	3	0	PPFIA1	69901909	1.000000	0.71417	0.663000	0.29738	0.128000	0.20619	5.863000	0.69568	2.180000	0.69256	0.561000	0.74099	ATG		0.498	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		88	428	0	0	0	1	0	88	428				
VCAN	1462	broad.mit.edu	37	5	82786232	82786232	+	Missense_Mutation	SNP	G	G	A	rs370476323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82786232G>A	ENST00000265077.3	+	3	951	c.386G>A	c.(385-387)cGc>cAc	p.R129H	VCAN_ENST00000343200.5_Missense_Mutation_p.R129H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000513984.1_Missense_Mutation_p.R129H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	129	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGTCTTTACCGCTGTGACGTC	0.517																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(385-387)cGc>cAc		versican		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	146.0	140.0	142.0		386,386,386,386	5.7	1.0	5		142	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	129/656,129/2410,129/1643,129/3397	82786232	1,13005	2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82786232G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.386G>A	5.37:g.82786232G>A	ENSP00000265077:p.Arg129His					VCAN_ENST00000513984.1_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000343200.5_Missense_Mutation_p.R129H	p.R129H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	3	951	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	129			Ig-like V-type.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.386G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462761	0.84425	0.0	1.16E-4	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80618	0.4657	M	0.76433	2.335	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.924;0.999;1.0;0.986	T	0.81693	-0.0817	10	0.87932	D	0	.	19.9058	0.97007	0.0:0.0:1.0:0.0	.	129;129;129;129;129	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	129;129;129;81;129;129;129	ENSP00000265077:R129H;ENSP00000340062:R129H;ENSP00000342768:R129H;ENSP00000425959:R81H;ENSP00000426251:R129H;ENSP00000426715:R129H;ENSP00000421362:R129H	ENSP00000265077:R129H	R	+	2	0	VCAN	82821988	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.161000	0.71868	2.716000	0.92895	0.561000	0.74099	CGC		0.517	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		103	388	0	0	0	1	0	103	388				
DCLK1	9201	broad.mit.edu	37	13	36686021	36686021	+	Silent	SNP	C	C	T	rs202117078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686021C>T	ENST00000360631.3	-	3	919	c.708G>A	c.(706-708)acG>acA	p.T236T	DCLK1_ENST00000255448.4_Silent_p.T236T|DCLK1_ENST00000379892.4_Silent_p.T236T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	236	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCCATCCAACGTGTACAGGC	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19961	0.0		0.0	False		,,,				2504	0.0					ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(706-708)acG>acA		doublecortin-like kinase 1		C		2,4404	4.2+/-10.8	0,2,2201	102.0	89.0	93.0		708	-9.3	0.0	13		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DCLK1	NM_004734.4		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		236/730	36686021	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686021C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.708G>A	13.37:g.36686021C>T						DCLK1_ENST00000360631.3_Silent_p.T236T|DCLK1_ENST00000379892.4_Silent_p.T236T	p.T236T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	919	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	236			Doublecortin 2.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.708G>A																																																																																					0.483	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		31	380	0	0	0	1	0	31	380				
IDO1	3620	broad.mit.edu	37	8	39780089	39780089	+	Silent	SNP	C	C	T	rs115833371	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39780089C>T	ENST00000518237.1	+	6	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Silent_p.F152F	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	152					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	ACGTTTTGTTCTCATTTCGTG	0.373																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(454-456)ttC>ttT		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						136.0	125.0	128.0					8																	39780089		1857	4109	5966	SO:0001819	synonymous_variant	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39780089C>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.456C>T	8.37:g.39780089C>T						IDO1_ENST00000522495.1_Silent_p.F152F|RP11-44K6.3_ENST00000517623.1_RNA	p.F152F	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			6	1095	+			152					Q540B4	Silent	SNP	ENST00000518237.1	37	c.456C>T	CCDS47847.1																																																																																				0.373	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		51	198	0	0	0	1	0	51	198				
SRRM4	84530	broad.mit.edu	37	12	119568492	119568492	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568492C>T	ENST00000267260.4	+	8	1012	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	208	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCACCGCGGCCGGTCCCCTG	0.632																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(622-624)ggC>ggT		serine/arginine repetitive matrix 4							16.0	20.0	18.0					12																	119568492		1888	4099	5987	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568492C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.624C>T	12.37:g.119568492C>T						SRRM4_ENST00000537597.1_3'UTR	p.G208G	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1012	+			208			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.624C>T	CCDS44994.1																																																																																				0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		26	100	0	0	0	1	0	26	100				
SEZ6L2	26470	broad.mit.edu	37	16	29891239	29891239	+	Missense_Mutation	SNP	C	C	T	rs139011711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29891239C>T	ENST00000308713.5	-	9	2046	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	507	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACACATTCGATGGCATTG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17934	0.0		0.0	False		,,,				2504	0.0					ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1519-1521)Gaa>Aaa		seizure related 6 homolog (mouse)-like 2		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	147.0	144.0	145.0		1309,1177,1309,1519	5.3	1.0	16	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	56,56,56,56	0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	437/841,393/810,437/854,507/911	29891239	2,12992	2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891239C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1519G>A	16.37:g.29891239C>T	ENSP00000312550:p.Glu507Lys					SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K	p.E507K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			9	2046	-			507			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1519G>A	CCDS10659.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	29.8	5.039132	0.93630	2.28E-4	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.105878	0.41823	D	0.000808	T	0.74642	0.3743	M	0.62723	1.935	0.80722	D	1	D;D;P;P;D;P	0.63880	0.993;0.96;0.824;0.951;0.96;0.951	P;B;B;B;B;B	0.61201	0.885;0.348;0.278;0.236;0.348;0.236	T	0.72865	-0.4163	10	0.39692	T	0.17	.	17.8014	0.88589	0.0:1.0:0.0:0.0	.	463;507;393;437;507;437	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	K	437;507;393;463	ENSP00000310206:E437K;ENSP00000312550:E507K;ENSP00000319215:E393K;ENSP00000439412:E463K	ENSP00000312550:E507K	E	-	1	0	SEZ6L2	29798740	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	4.505000	0.60421	2.735000	0.93741	0.655000	0.94253	GAA		0.622	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		222	938	0	0	0	1	0	222	938				
PAFAH1B1	5048	broad.mit.edu	37	17	2576029	2576029	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2576029A>C	ENST00000397195.5	+	7	1100	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q|PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TAAAACTATAAAAATGTGGGA	0.463																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(649-651)Aaa>Caa		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							97.0	89.0	92.0					17																	2576029		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2576029A>C	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.649A>C	17.37:g.2576029A>C	ENSP00000380378:p.Lys217Gln					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q	p.K217Q	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			7	1100	+			217			Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.649A>C	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567297	0.86439	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.66995	-0.24;-0.24	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.83554	0.0103	10	0.87932	D	0	.	14.0218	0.64560	1.0:0.0:0.0:0.0	.	46;217	B4DF38;P43034	.;LIS1_HUMAN	Q	217;46;46	ENSP00000380378:K217Q;ENSP00000395628:K46Q	ENSP00000380377:K46Q	K	+	1	0	PAFAH1B1	2522779	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.135000	0.94478	1.953000	0.56701	0.460000	0.39030	AAA		0.463	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		50	189	0	0	0	1	0	50	189				
MSC	9242	broad.mit.edu	37	8	72756150	72756150	+	Silent	SNP	G	G	A	rs376704804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72756150G>A	ENST00000325509.4	-	1	553	c.264C>T	c.(262-264)ggC>ggT	p.G88G	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	88	Gly-rich.|Poly-Gly.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCCACCACCGCCCGCGCTAC	0.741											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(262-264)ggC>ggT		musculin							4.0	6.0	6.0					8																	72756150		2072	4131	6203	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756150G>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.264C>T	8.37:g.72756150G>A			OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	p.G88G	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	553	-	Breast(64;0.176)		88			Gly-rich.|Poly-Gly.		O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.264C>T	CCDS43746.1																																																																																				0.741	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		12	66	0	0	0	1	0	12	66				
ABLIM3	22885	broad.mit.edu	37	5	148637959	148637959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148637959C>T	ENST00000506113.1	+	23	2526	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	ABLIM3_ENST00000326685.7_Silent_p.L587L|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.L682L|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000508983.1_Silent_p.L649L|ABLIM3_ENST00000517451.1_Silent_p.L168L|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	682	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCCGGCTGTTCTAGGC	0.438																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2044-2046)Ctg>Ttg		actin binding LIM protein family, member 3							46.0	46.0	46.0					5																	148637959		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148637959C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.2044C>T	5.37:g.148637959C>T						ABLIM3_ENST00000326685.7_Silent_p.L587L|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.L682L|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Silent_p.L168L|ABLIM3_ENST00000508983.1_Silent_p.L649L|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000522685.1_RNA	p.L682L			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	2526	+			682			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.2044C>T	CCDS4294.1																																																																																				0.438	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		56	213	0	0	0	1	0	56	213				
IKZF1	10320	broad.mit.edu	37	7	50444294	50444294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444294G>T	ENST00000331340.3	+	4	379	c.224G>T	c.(223-225)gGg>gTg	p.G75V	IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	75					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAATGAATGGGGAAGAATGT	0.488			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(223-225)gGg>gTg		IKAROS family zinc finger 1 (Ikaros)							148.0	153.0	152.0					7																	50444294		1977	4157	6134	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50444294G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.224G>T	7.37:g.50444294G>T	ENSP00000331614:p.Gly75Val					IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V	p.G75V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			4	379	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	75					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.224G>T		.	.	.	.	.	.	.	.	.	.	G	16.60	3.169750	0.57584	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.07800	3.31;3.16;4.22;3.38;3.31;3.31	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14924	-1.0455	9	0.87932	D	0	-15.7728	17.4837	0.87682	0.0:0.0:1.0:0.0	.	75;75	Q13422-7;Q13422	.;IKZF1_HUMAN	V	75	ENSP00000352123:G75V;ENSP00000401507:G75V;ENSP00000342485:G75V;ENSP00000349928:G75V;ENSP00000331614:G75V;ENSP00000413025:G75V	ENSP00000331614:G75V	G	+	2	0	IKZF1	50411788	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.651000	0.67951	2.204000	0.70986	0.313000	0.20887	GGG		0.488	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		94	342	1	0	2.01309e-51	1	2.49808e-51	94	342				
CEACAM6	4680	broad.mit.edu	37	19	42260853	42260853	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42260853A>G	ENST00000199764.6	+	2	628	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	137	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCAACCGGACAGTTCCATGTA	0.488																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(409-411)cAg>cGg		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							273.0	269.0	270.0					19																	42260853		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260853A>G	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.410A>G	19.37:g.42260853A>G	ENSP00000199764:p.Gln137Arg					CEA_ENST00000598976.1_Intron	p.Q137R	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	628	+			137			Ig-like V-type.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.410A>G	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	A	1.897	-0.454152	0.04540	.	.	ENSG00000086548	ENST00000199764	T	0.64991	-0.13	2.15	-0.616	0.11583	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52613	0.1745	L	0.60067	1.865	0.09310	N	1	B	0.02656	0.0	B	0.15052	0.012	T	0.35525	-0.9785	9	0.30854	T	0.27	.	6.975	0.24670	0.7167:0.0:0.2833:0.0	.	137	P40199	CEAM6_HUMAN	R	137	ENSP00000199764:Q137R	ENSP00000199764:Q137R	Q	+	2	0	CEACAM6	46952693	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.716000	0.25836	-1.127000	0.02925	-1.889000	0.00537	CAG		0.488	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			256	1220	0	0	0	1	0	256	1220				
PIAS2	9063	broad.mit.edu	37	18	44470901	44470901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470901G>A	ENST00000585916.1	-	2	140	c.141C>T	c.(139-141)agC>agT	p.S47S	PIAS2_ENST00000324794.7_Silent_p.S47S|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	47					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGCAGCCGCTCTTCAATA	0.443																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(139-141)agC>agT		protein inhibitor of activated STAT, 2							69.0	71.0	71.0					18																	44470901		2203	4300	6503	SO:0001819	synonymous_variant	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470901G>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.141C>T	18.37:g.44470901G>A						PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Silent_p.S47S	p.S47S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			2	140	-			47					O75927|Q96BT5|Q96KE3	Silent	SNP	ENST00000585916.1	37	c.141C>T	CCDS32824.1																																																																																				0.443	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		64	483	0	0	0	1	0	64	483				
GLB1L2	89944	broad.mit.edu	37	11	134238539	134238539	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134238539G>T	ENST00000535456.2	+	10	1079	c.891G>T	c.(889-891)gaG>gaT	p.E297D	GLB1L2_ENST00000389881.3_Splice_Site_p.E297D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Splice_Site_p.E297D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	297					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCGGCAGAGGTTTTGAAAA	0.542																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e10-1		galactosidase, beta 1-like 2							72.0	72.0	72.0					11																	134238539		2201	4297	6498	SO:0001630	splice_region_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134238539G>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.890-1G>T	11.37:g.134238539G>T						GLB1L2_ENST00000389881.3_Splice_Site_p.E297_splice|GLB1L2_ENST00000339772.7_Splice_Site_p.E297_splice|GLB1L2_ENST00000529077.1_3'UTR	p.E297_splice	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	10	1079	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	297					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Splice_Site	SNP	ENST00000535456.2	37	c.889_splice	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.302|3.302	-0.142586|-0.142586	0.06669|0.06669	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	D;D;D|.	0.97752|.	-4.52;-4.52;-4.52|.	5.19|5.19	0.61|0.61	0.17580|0.17580	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.220925|.	0.46442|.	D|.	0.000296|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.05351|0.05351	-0.065|-0.065	0.32055|0.32055	N|N	0.596416|0.596416	B|.	0.11235|.	0.004|.	B|.	0.16289|.	0.015|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.17832|.	T|.	0.49|.	.|.	5.6384|5.6384	0.17550|0.17550	0.2586:0.0:0.5583:0.1832|0.2586:0.0:0.5583:0.1832	.|.	297|.	Q8IW92|.	GLBL2_HUMAN|.	D|C	297|236;125	ENSP00000344659:E297D;ENSP00000444628:E297D;ENSP00000374531:E297D|.	ENSP00000344659:E297D|.	E|G	+|+	3|1	2|0	GLB1L2|GLB1L2	133743749|133743749	0.304000|0.304000	0.24472|0.24472	0.910000|0.910000	0.35882|0.35882	0.196000|0.196000	0.23810|0.23810	-0.606000|-0.606000	0.05654|0.05654	0.187000|0.187000	0.20147|0.20147	0.655000|0.655000	0.94253|0.94253	GAG|GGT		0.542	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	Missense_Mutation	34	406	1	0	4.4194e-11	1	4.70867e-11	34	406				
TTN	7273	broad.mit.edu	37	2	179584922	179584922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179584922G>A	ENST00000591111.1	-	79	22720	c.22496C>T	c.(22495-22497)gCc>gTc	p.A7499V	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7816V|TTN_ENST00000342992.6_Missense_Mutation_p.A6572V			Q8WZ42	TITIN_HUMAN	titin	13055	Ig-like 57.				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)			CTCCACTATGGCCCGTAACTC	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23446-23448)gCc>gTc		titin							93.0	89.0	90.0					2																	179584922		1861	4104	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584922G>A	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.22496C>T	2.37:g.179584922G>A	ENSP00000465570:p.Ala7499Val					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6572V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7499V	p.A7816V	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)		81	23671	-			7499			Ig-like 60.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.23447C>T		.	.	.	.	.	.	.	.	.	.	G	7.240	0.601000	0.13939	.	.	ENSG00000155657	ENST00000342992	T	0.39056	1.1	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52821	0.1758	L	0.43923	1.385	0.80722	D	1	D	0.69078	0.997	P	0.54346	0.749	T	0.53450	-0.8437	9	0.87932	D	0	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	7499	Q8WZ42	TITIN_HUMAN	V	6572	ENSP00000343764:A6572V	ENSP00000343764:A6572V	A	-	2	0	TTN	179293167	0.198000	0.23374	0.585000	0.28666	0.075000	0.17131	2.688000	0.46984	2.721000	0.93114	0.650000	0.86243	GCC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		77	224	0	0	0	1	0	77	224				
ZNF780B	163131	broad.mit.edu	37	19	40542318	40542318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40542318G>T	ENST00000434248.1	-	5	513	c.448C>A	c.(448-450)Cct>Act	p.P150T	ZNF780B_ENST00000221355.6_Missense_Mutation_p.P2T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTATAAGCAGGCATTTCTTCA	0.343																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(448-450)Cct>Act		zinc finger protein 780B							121.0	127.0	125.0					19																	40542318		2182	4288	6470	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40542318G>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.448C>A	19.37:g.40542318G>T	ENSP00000391641:p.Pro150Thr					ZNF780B_ENST00000221355.6_Missense_Mutation_p.P2T	p.P150T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	513	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		150					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.448C>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	3.475	-0.107085	0.06924	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.06371	3.49;3.31	2.14	-0.299	0.12808	.	.	.	.	.	T	0.04272	0.0118	N	0.17345	0.48	0.09310	N	1	P	0.48764	0.915	B	0.43413	0.419	T	0.39603	-0.9606	9	0.72032	D	0.01	.	4.6214	0.12450	0.5191:0.0:0.4809:0.0	.	150	Q9Y6R6	Z780B_HUMAN	T	150;2	ENSP00000391641:P150T;ENSP00000221355:P2T	ENSP00000221355:P2T	P	-	1	0	ZNF780B	45234158	.	.	0.011000	0.14972	0.073000	0.16967	.	.	0.192000	0.20272	0.313000	0.20887	CCT		0.343	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		54	211	1	0	1.51943e-15	1	1.66198e-15	54	211				
CMKLR1	1240	broad.mit.edu	37	12	108686528	108686528	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108686528T>A	ENST00000312143.7	-	3	575	c.212A>T	c.(211-213)aAg>aTg	p.K71M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.K69M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	71					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTCACTGTCTTCTTCATCTT	0.517																																						ENST00000397688.2																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(205-207)aAg>aTg		chemokine-like receptor 1							135.0	135.0	135.0					12																	108686528		2040	4194	6234	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686528T>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.212A>T	12.37:g.108686528T>A	ENSP00000311733:p.Lys71Met					CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000312143.7_Missense_Mutation_p.K71M	p.K69M	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN			3	575	-			71					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.206A>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	t	17.48	3.400342	0.62177	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.0	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.159847	0.53938	D	0.000046	T	0.58481	0.2125	M	0.74258	2.255	0.40904	D	0.984177	D	0.76494	0.999	D	0.73380	0.98	T	0.57757	-0.7756	10	0.87932	D	0	.	7.4535	0.27252	0.0:0.2193:0.0:0.7807	.	71	Q99788	CML1_HUMAN	M	71;71;69;69;71;71;71	ENSP00000311733:K71M;ENSP00000401293:K71M;ENSP00000380803:K69M;ENSP00000447579:K69M;ENSP00000449716:K71M;ENSP00000448925:K71M;ENSP00000448362:K71M	ENSP00000311733:K71M	K	-	2	0	CMKLR1	107210658	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.820000	0.27323	0.177000	0.19895	0.387000	0.25754	AAG		0.517	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			74	301	0	0	0	1	0	74	301				
KDM6B	23135	broad.mit.edu	37	17	7752715	7752715	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7752715G>A	ENST00000448097.2	+	11	3440	c.3109G>A	c.(3109-3111)Gat>Aat	p.D1037N	KDM6B_ENST00000254846.5_Missense_Mutation_p.D1037N			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1037					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTCCCGGCCCGATCTTGGCGG	0.662																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3109-3111)Gat>Aat		lysine (K)-specific demethylase 6B							14.0	13.0	13.0					17																	7752715		2180	4266	6446	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752715G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3109G>A	17.37:g.7752715G>A	ENSP00000412513:p.Asp1037Asn					KDM6B_ENST00000448097.2_Missense_Mutation_p.D1037N	p.D1037N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3498	+			1037					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3109G>A		.	.	.	.	.	.	.	.	.	.	G	6.299	0.423180	0.11928	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32753	1.44;1.44	3.67	3.67	0.42095	.	0.510853	0.15246	N	0.272627	T	0.18551	0.0445	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.118;0.041	B;B	0.18561	0.007;0.022	T	0.11012	-1.0605	10	0.30854	T	0.27	-1.9598	13.2917	0.60274	0.0:0.0:1.0:0.0	.	1037;1037	O15054;O15054-1	KDM6B_HUMAN;.	N	1037	ENSP00000254846:D1037N;ENSP00000412513:D1037N	ENSP00000254846:D1037N	D	+	1	0	KDM6B	7693440	0.757000	0.28394	0.032000	0.17829	0.529000	0.34654	3.116000	0.50399	2.074000	0.62210	0.462000	0.41574	GAT		0.662	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	94	0	0	0	1	0	7	94				
SMARCD2	6603	broad.mit.edu	37	17	61910711	61910711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910711C>T	ENST00000448276.2	-	11	1652	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	463					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCCTGGGGGTCGGTGCTAAAA	0.547																																						ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(1387-1389)Gac>Aac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							109.0	110.0	109.0					17																	61910711		1977	4192	6169	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61910711C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1387G>A	17.37:g.61910711C>T	ENSP00000392617:p.Asp463Asn					SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N|SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N	p.D463N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			11	1652	-			463					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.1387G>A	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	9.034	0.987974	0.18966	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.57752	0.38;0.44	5.44	5.44	0.79542	.	0.278299	0.45867	D	0.000327	T	0.47967	0.1474	L	0.47078	1.49	0.40283	D	0.978414	B;B;B	0.17465	0.022;0.012;0.021	B;B;B	0.13407	0.004;0.006;0.009	T	0.35943	-0.9768	10	0.32370	T	0.25	-1.9548	16.7916	0.85590	0.0:1.0:0.0:0.0	.	415;426;463	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	463;405;426;415	ENSP00000392617:D463N;ENSP00000318451:D415N	ENSP00000225742:D405N	D	-	1	0	SMARCD2	59264443	0.532000	0.26346	0.983000	0.44433	0.004000	0.04260	0.995000	0.29706	2.833000	0.97629	0.650000	0.86243	GAC		0.547	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		64	319	0	0	0	1	0	64	319				
TUBGCP6	85378	broad.mit.edu	37	22	50671771	50671771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50671771C>T	ENST00000248846.5	-	3	1194	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V364M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	364					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCAGACACGACCCCAATC	0.642																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(1090-1092)Gtg>Atg		tubulin, gamma complex associated protein 6							110.0	58.0	76.0					22																	50671771		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50671771C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1090G>A	22.37:g.50671771C>T	ENSP00000248846:p.Val364Met					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V364M	p.V364M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	3	1582	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	364					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1090G>A	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379591	0.61845	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.07908	3.15;3.15	5.69	3.55	0.40652	.	0.603759	0.17925	N	0.157367	T	0.08670	0.0215	L	0.53249	1.67	0.09310	N	1	P;P	0.49862	0.929;0.929	B;B	0.37198	0.243;0.243	T	0.17167	-1.0378	10	0.48119	T	0.1	.	11.0148	0.47682	0.0:0.7994:0.1299:0.0707	.	364;364	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	364	ENSP00000248846:V364M;ENSP00000397387:V364M	ENSP00000248846:V364M	V	-	1	0	TUBGCP6	49013898	0.836000	0.29430	0.004000	0.12327	0.773000	0.43773	4.750000	0.62162	0.715000	0.32103	0.561000	0.74099	GTG		0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		23	131	0	0	0	1	0	23	131				
PLEC	5339	broad.mit.edu	37	8	145008523	145008523	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145008523G>T	ENST00000322810.4	-	11	1712	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	PLEC_ENST00000356346.3_Missense_Mutation_p.L364M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M|PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000357649.2_Missense_Mutation_p.L382M|PLEC_ENST00000436759.2_Missense_Mutation_p.L405M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	515	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCGCTCCAGGATGGCCACG	0.652																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1543-1545)Ctg>Atg		plectin							37.0	42.0	40.0					8																	145008523		2081	4195	6276	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145008523G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1543C>A	8.37:g.145008523G>T	ENSP00000323856:p.Leu515Met					PLEC_ENST00000357649.2_Missense_Mutation_p.L382M|PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000356346.3_Missense_Mutation_p.L364M|PLEC_ENST00000436759.2_Missense_Mutation_p.L405M	p.L515M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			11	1712	-			515			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1543C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.891959	0.52014	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.4	5.4	0.78164	.	0.000000	0.46758	U	0.000264	D	0.96540	0.8871	M	0.75777	2.31	0.52099	D	0.999946	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.96942	0.9688	10	0.87932	D	0	.	17.9524	0.89057	0.0:0.0:1.0:0.0	.	405;364;356;515;346;378;382;378	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	378;382;378;346;515;356;364;405;401;422	ENSP00000344848:L378M;ENSP00000350277:L382M;ENSP00000346602:L378M;ENSP00000381756:L346M;ENSP00000323856:L515M;ENSP00000347044:L356M;ENSP00000348702:L364M;ENSP00000388180:L405M;ENSP00000434583:L401M;ENSP00000437303:L422M	ENSP00000323856:L515M	L	-	1	2	PLEC	145080511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	2.542000	0.85734	0.645000	0.84053	CTG		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		52	248	1	0	6.4308e-24	1	7.32928e-24	52	248				
PYGL	5836	broad.mit.edu	37	14	51378995	51378995	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378995G>A	ENST00000216392.7	-	14	1979	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	PYGL_ENST00000532462.1_Silent_p.F549F|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.F515F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	549					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CCGTCTCCAGGAACTGAGAAA	0.448																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1645-1647)ttC>ttT		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						165.0	159.0	161.0					14																	51378995		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51378995G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1647C>T	14.37:g.51378995G>A						PYGL_ENST00000532462.1_Silent_p.F549F|PYGL_ENST00000544180.2_Silent_p.F515F|RP11-218E20.5_ENST00000557343.1_RNA	p.F549F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			14	1979	-	all_epithelial(31;0.00825)|Breast(41;0.148)		549					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1647C>T	CCDS32080.1																																																																																				0.448	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		123	693	0	0	0	1	0	123	693				
RLTPR	146206	broad.mit.edu	37	16	67680837	67680837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67680837G>A	ENST00000334583.6	+	8	900	c.572G>A	c.(571-573)cGc>cAc	p.R191H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	191					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGCTGCCGCCATTTCAGC	0.637																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(571-573)cGc>cAc		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							24.0	26.0	26.0					16																	67680837		1999	4176	6175	SO:0001583	missense	146206							g.chr16:67680837G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.572G>A	16.37:g.67680837G>A	ENSP00000334958:p.Arg191His					RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	p.R191H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	8	900	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	191					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.572G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531042	0.85706	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.55413	0.52;0.52	4.53	4.53	0.55603	.	0.059925	0.64402	D	0.000003	T	0.69151	0.3079	M	0.63843	1.955	0.44432	D	0.99735	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.70346	-0.4897	10	0.51188	T	0.08	-21.1664	15.5787	0.76414	0.0:0.0:1.0:0.0	.	191;191	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	191	ENSP00000334958:R191H;ENSP00000441481:R191H	ENSP00000334958:R191H	R	+	2	0	RLTPR	66238338	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.794000	0.62482	2.516000	0.84829	0.563000	0.77884	CGC		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		29	141	0	0	0	1	0	29	141				
BPTF	2186	broad.mit.edu	37	17	65907902	65907902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65907902G>A	ENST00000321892.4	+	13	4341	c.4280G>A	c.(4279-4281)aGc>aAc	p.S1427N	BPTF_ENST00000306378.6_Missense_Mutation_p.S1301N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1427					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTCAGGATAGCAGTGAAGAA	0.393																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4279-4281)aGc>aAc		bromodomain PHD finger transcription factor							107.0	104.0	105.0					17																	65907902		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907902G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4280G>A	17.37:g.65907902G>A	ENSP00000315454:p.Ser1427Asn					BPTF_ENST00000306378.6_Missense_Mutation_p.S1301N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N	p.S1427N			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4341	+	all_cancers(12;6e-11)		1427					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4280G>A		.	.	.	.	.	.	.	.	.	.	G	7.229	0.598910	0.13939	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62232	0.05;0.04;0.04	5.34	3.33	0.38152	.	.	.	.	.	T	0.38453	0.1041	N	0.14661	0.345	0.39794	D	0.972479	B;B	0.17268	0.018;0.021	B;B	0.15484	0.011;0.013	T	0.21655	-1.0239	9	0.06757	T	0.87	-8.1721	10.6426	0.45602	0.1843:0.0:0.8157:0.0	.	1301;1427	Q12830-2;Q12830-4	.;.	N	1301;1427;1427	ENSP00000307208:S1301N;ENSP00000334351:S1427N;ENSP00000315454:S1427N	ENSP00000307208:S1301N	S	+	2	0	BPTF	63338364	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.674000	0.46867	2.478000	0.83669	0.650000	0.86243	AGC		0.393	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		50	370	0	0	0	1	0	50	370				
RSL1D1	26156	broad.mit.edu	37	16	11941533	11941533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11941533C>T	ENST00000571133.1	-	3	448	c.376G>A	c.(376-378)Gtt>Att	p.V126I	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	126					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCTGAGAAACGGTTTTAATT	0.318																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(376-378)Gtt>Att		ribosomal L1 domain containing 1							88.0	89.0	89.0					16																	11941533		2197	4299	6496	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11941533C>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.376G>A	16.37:g.11941533C>T	ENSP00000460871:p.Val126Ile					RSL1D1_ENST00000542106.1_5'UTR	p.V126I	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			3	448	-			126					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.376G>A	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.226134	0.00283	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.37915	1.17	5.0	1.47	0.22746	Ribosomal protein L1, superfamily (1);	0.298473	0.36374	N	0.002639	T	0.09247	0.0228	N	0.01076	-1.035	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.011	T	0.35822	-0.9773	10	0.02654	T	1	-7.1063	7.6356	0.28264	0.0:0.359:0.0:0.641	.	126;126	Q32Q62;O76021	.;RL1D1_HUMAN	I	126	ENSP00000347897:V126I	ENSP00000347897:V126I	V	-	1	0	RSL1D1	11849034	0.010000	0.17322	0.157000	0.22605	0.144000	0.21451	-0.013000	0.12678	0.046000	0.15833	-1.327000	0.01280	GTT		0.318	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		58	292	0	0	0	1	0	58	292				
LLGL1	3996	broad.mit.edu	37	17	18133300	18133300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18133300G>A	ENST00000316843.4	+	2	223	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	43					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTGGCCTTCGACCCGGAACT	0.622																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(127-129)Gac>Aac		lethal giant larvae homolog 1 (Drosophila)							107.0	93.0	98.0					17																	18133300		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18133300G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.127G>A	17.37:g.18133300G>A	ENSP00000321537:p.Asp43Asn						p.D43N	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			2	223	+	all_neural(463;0.228)		43					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.127G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450212	0.96205	.	.	ENSG00000131899	ENST00000316843	T	0.64618	-0.11	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84122	0.0407	10	0.87932	D	0	-37.7297	17.8256	0.88664	0.0:0.0:1.0:0.0	.	43	Q15334	L2GL1_HUMAN	N	43	ENSP00000321537:D43N	ENSP00000321537:D43N	D	+	1	0	LLGL1	18074025	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	4.514000	0.60482	2.584000	0.87258	0.558000	0.71614	GAC		0.622	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			118	452	0	0	0	1	0	118	452				
SUV420H1	51111	broad.mit.edu	37	11	67925463	67925463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925463C>A	ENST00000304363.4	-	11	2703	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	784					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTTCCTCATCTCGTTTTAGC	0.413																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2350-2352)Gat>Tat		suppressor of variegation 4-20 homolog 1 (Drosophila)							188.0	206.0	200.0					11																	67925463		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925463C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2350G>T	11.37:g.67925463C>A	ENSP00000305899:p.Asp784Tyr						p.D784Y	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2703	-			784					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2350G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742774	0.69418	.	.	ENSG00000110066	ENST00000304363	T	0.51574	0.7	5.39	5.39	0.77823	.	0.098404	0.64402	D	0.000001	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.60575	0.988	P	0.57371	0.819	T	0.58188	-0.7680	10	0.87932	D	0	-27.8809	19.1401	0.93444	0.0:1.0:0.0:0.0	.	784	Q4FZB7	SV421_HUMAN	Y	784	ENSP00000305899:D784Y	ENSP00000305899:D784Y	D	-	1	0	SUV420H1	67682039	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.375000	0.79646	2.536000	0.85505	0.491000	0.48974	GAT		0.413	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		40	1009	1	0	3.03874e-20	1	3.40186e-20	40	1009				
PPP6C	5537	broad.mit.edu	37	9	127912091	127912091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127912091T>G	ENST00000373547.4	-	7	878	c.779A>C	c.(778-780)aAt>aCt	p.N260T	PPP6C_ENST00000451402.1_Missense_Mutation_p.N297T|PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	260					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ATAGCAGTAATTAGGAGCAGA	0.393																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(889-891)aAt>aCt		protein phosphatase 6, catalytic subunit							135.0	119.0	125.0					9																	127912091		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127912091T>G	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.779A>C	9.37:g.127912091T>G	ENSP00000362648:p.Asn260Thr					PPP6C_ENST00000373547.4_Missense_Mutation_p.N260T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T|PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T	p.N297T	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			8	1110	-			260					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.890A>C	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.175190	0.57692	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.52	5.52	0.82312	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90237	0.4283	10	0.87932	D	0	-14.2754	14.812	0.70003	0.0:0.0:0.0:1.0	.	238;297;260	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	T	260;297;238;113	ENSP00000362648:N260T;ENSP00000392147:N297T;ENSP00000411744:N238T;ENSP00000362647:N113T	ENSP00000362647:N113T	N	-	2	0	PPP6C	126951912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.650000	0.83521	2.093000	0.63338	0.455000	0.32223	AAT		0.393	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		38	191	0	0	0	1	0	38	191				
PLTP	5360	broad.mit.edu	37	20	44528125	44528125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44528125C>T	ENST00000477313.1	-	14	1929	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	PLTP_ENST00000372420.1_Silent_p.V357V|PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000542937.1_Silent_p.V465V|PLTP_ENST00000372431.3_Silent_p.V445V			P55058	PLTP_HUMAN	phospholipid transfer protein	445					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CCACCTCATGCACAAAGTTGA	0.642																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1393-1395)gtG>gtA		phospholipid transfer protein							115.0	89.0	98.0					20																	44528125		2203	4300	6503	SO:0001819	synonymous_variant	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44528125C>T	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1335G>A	20.37:g.44528125C>T						PLTP_ENST00000477313.1_Silent_p.V445V|PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000372420.1_Silent_p.V357V|PLTP_ENST00000372431.3_Silent_p.V445V	p.V465V			P55058	PLTP_HUMAN			14	1929	-		Myeloproliferative disorder(115;0.0122)	445					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	c.1395G>A	CCDS13386.1																																																																																				0.642	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		70	346	0	0	0	1	0	70	346				
GLO1	2739	broad.mit.edu	37	6	38645126	38645126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38645126G>A	ENST00000373365.4	-	6	586	c.500C>T	c.(499-501)cCt>cTt	p.P167L	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	167					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	GTAGCCATCAGGATCTTGAAT	0.303																																						ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(499-501)cCt>cTt		glyoxalase I	Glutathione(DB00143)						80.0	81.0	81.0					6																	38645126		2203	4300	6503	SO:0001583	missense	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38645126G>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.500C>T	6.37:g.38645126G>A	ENSP00000362463:p.Pro167Leu					GLO1_ENST00000470973.1_5'UTR	p.P167L	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			6	586	-			167					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	c.500C>T	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356336	0.82243	.	.	ENSG00000124767	ENST00000373365	T	0.60299	0.2	5.92	5.06	0.68205	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91455	0.5184	10	0.87932	D	0	-20.8734	15.1386	0.72590	0.0676:0.0:0.9324:0.0	.	167	Q04760	LGUL_HUMAN	L	167	ENSP00000362463:P167L	ENSP00000362463:P167L	P	-	2	0	GLO1	38753104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.763000	0.91715	1.518000	0.48934	-0.140000	0.14226	CCT		0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		57	232	0	0	0	1	0	57	232				
LRRC27	80313	broad.mit.edu	37	10	134158066	134158066	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134158066C>T	ENST00000368614.3	+	5	570	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LRRC27_ENST00000356571.4_Missense_Mutation_p.R136C|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000368613.4_Silent_p.L155L|LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368615.3_Silent_p.L155L	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	155										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCCTCAGCTCGTTGTGCAGA	0.512																																						ENST00000356571.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(406-408)Cgt>Tgt		leucine rich repeat containing 27							137.0	132.0	134.0					10																	134158066		2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134158066C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.465C>T	10.37:g.134158066C>T						LRRC27_ENST00000368613.4_Silent_p.L155L|LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368615.3_Silent_p.L155L|LRRC27_ENST00000368614.3_Silent_p.L155L|LRRC27_ENST00000368612.1_Silent_p.L93L	p.R136C			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	4	518	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	16					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.406C>T	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.78|10.78	1.447569|1.447569	0.26074|0.26074	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000356571|ENST00000450442	T|.	0.62941|.	-0.01|.	5.16|5.16	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.25005|0.25005	0.0607|0.0607	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23940|0.23940	-1.0174|-1.0174	6|4	0.49607|.	T|.	0.09|.	-1.6037|-1.6037	9.3344|9.3344	0.38040|0.38040	0.0:0.1366:0.4286:0.4348|0.0:0.1366:0.4286:0.4348	.|.	.|.	.|.	.|.	C|L	136|107	ENSP00000348978:R136C|.	ENSP00000348978:R136C|.	R|S	+|+	1|2	0|0	LRRC27|LRRC27	134008056|134008056	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.558000|-1.558000	0.02164|0.02164	-2.268000|-2.268000	0.00685|0.00685	-0.136000|-0.136000	0.14681|0.14681	CGT|TCG		0.512	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		105	411	0	0	0	1	0	105	411				
ANO8	57719	broad.mit.edu	37	19	17435885	17435885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17435885G>A	ENST00000159087.4	-	17	3130	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	991					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGTGGCCCCTGACGAGAGGAA	0.667																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2971-2973)tCa>tTa		anoctamin 8							79.0	88.0	85.0					19																	17435885		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17435885G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2972C>T	19.37:g.17435885G>A	ENSP00000159087:p.Ser991Leu						p.S991L	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			17	3130	-			991					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.2972C>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914818	0.33815	.	.	ENSG00000074855	ENST00000159087	T	0.67171	-0.25	3.87	3.87	0.44632	.	0.798338	0.11379	N	0.570010	T	0.74718	0.3753	L	0.36672	1.1	0.37414	D	0.913357	D	0.71674	0.998	D	0.76071	0.987	T	0.76231	-0.3035	10	0.72032	D	0.01	.	13.3031	0.60336	0.0:0.0:1.0:0.0	.	991	Q9HCE9	ANO8_HUMAN	L	991	ENSP00000159087:S991L	ENSP00000159087:S991L	S	-	2	0	ANO8	17296885	0.004000	0.15560	0.017000	0.16124	0.015000	0.08874	1.458000	0.35223	1.697000	0.51169	0.478000	0.44815	TCA		0.667	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		123	924	0	0	0	1	0	123	924				
NELL2	4753	broad.mit.edu	37	12	44913879	44913879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913879G>A	ENST00000429094.2	-	19	2813	c.2309C>T	c.(2308-2310)aCc>aTc	p.T770I	NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000437801.2_Missense_Mutation_p.T820I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	770						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAAGTCTTGGTGATGTCATT	0.532																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2308-2310)aCc>aTc		NEL-like 2 (chicken)							129.0	108.0	115.0					12																	44913879		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913879G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2309C>T	12.37:g.44913879G>A	ENSP00000390680:p.Thr770Ile					NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I|NELL2_ENST00000437801.2_Missense_Mutation_p.T820I	p.T770I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2813	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	770			VWFC 5.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.2309C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545464	0.65198	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;T;D	0.82344	-1.54;-1.52;-1.22;-1.52;-1.54;-1.48;-1.6	5.07	3.96	0.45880	.	0.054960	0.64402	D	0.000001	D	0.82416	0.5032	L	0.57536	1.79	0.50313	D	0.999869	B;P;P;P;B	0.45827	0.19;0.738;0.867;0.79;0.311	B;B;P;B;B	0.48030	0.11;0.382;0.564;0.255;0.13	T	0.79455	-0.1796	10	0.19590	T	0.45	-11.0837	14.3728	0.66852	0.0845:0.0:0.9155:0.0	.	793;820;722;770;769	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	I	769;770;722;770;769;793;820	ENSP00000378866:T769I;ENSP00000390680:T770I;ENSP00000449332:T722I;ENSP00000394612:T770I;ENSP00000447927:T769I;ENSP00000327988:T793I;ENSP00000416341:T820I	ENSP00000327988:T793I	T	-	2	0	NELL2	43200146	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.603000	0.67619	2.325000	0.78763	0.650000	0.86243	ACC		0.532	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		36	261	0	0	0	1	0	36	261				
CASD1	64921	broad.mit.edu	37	7	94180661	94180661	+	Silent	SNP	C	C	T	rs549396821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94180661C>T	ENST00000297273.4	+	15	2114	c.1827C>T	c.(1825-1827)caC>caT	p.H609H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	609						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAGTTTTCCACGGAATGCTGT	0.299													C|||	1	0.000199681	0.0	0.0	5008	,	,		14771	0.001		0.0	False		,,,				2504	0.0					ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1825-1827)caC>caT		CAS1 domain containing 1							67.0	68.0	67.0					7																	94180661		2201	4296	6497	SO:0001819	synonymous_variant	64921					integral to membrane		g.chr7:94180661C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1827C>T	7.37:g.94180661C>T							p.H609H	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		15	2114	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		609					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Silent	SNP	ENST00000297273.4	37	c.1827C>T	CCDS5636.1																																																																																				0.299	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		14	148	0	0	0	1	0	14	148				
EPB41L2	2037	broad.mit.edu	37	6	131199340	131199340	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131199340A>G	ENST00000337057.3	-	14	2128	c.1947T>C	c.(1945-1947)agT>agC	p.S649S	EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	649	Spectrin--actin-binding.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCTTGAGTTCACTAATGCTAG	0.453																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1945-1947)agT>agC		erythrocyte membrane protein band 4.1-like 2							208.0	173.0	185.0					6																	131199340		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131199340A>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1947T>C	6.37:g.131199340A>G						EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000392427.3_Intron	p.S649S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	14	2128	-	Breast(56;0.0639)		649			Spectrin--actin-binding.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1947T>C	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641157	0.29157	.	.	ENSG00000079819	ENST00000456097	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0395	0.80654	1.0:0.0:0.0:0.0	.	.	.	.	R	140	.	.	X	-	1	0	EPB41L2	131241033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.494000	0.66905	2.188000	0.69820	0.533000	0.62120	TGA		0.453	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			64	277	0	0	0	1	0	64	277				
OR8D2	283160	broad.mit.edu	37	11	124190029	124190029	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124190029T>C	ENST00000357438.2	-	1	155	c.65A>G	c.(64-66)gAa>gGa	p.E22G		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAGTTGAAGTTCTGGGCGTTG	0.438																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(64-66)gAa>gGa		olfactory receptor, family 8, subfamily D, member 2							68.0	68.0	68.0					11																	124190029		2200	4299	6499	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124190029T>C	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.65A>G	11.37:g.124190029T>C	ENSP00000350022:p.Glu22Gly						p.E22G	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	155	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.65A>G	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	t	12.32	1.902945	0.33628	.	.	ENSG00000197263	ENST00000357438	T	0.00444	7.4	3.42	2.3	0.28687	.	0.142247	0.31577	N	0.007408	T	0.00384	0.0012	L	0.46741	1.465	0.26868	N	0.967817	D	0.56035	0.974	P	0.47981	0.563	T	0.55431	-0.8142	10	0.40728	T	0.16	.	8.0264	0.30440	0.0:0.1052:0.0:0.8948	.	22	Q9GZM6	OR8D2_HUMAN	G	22	ENSP00000350022:E22G	ENSP00000350022:E22G	E	-	2	0	OR8D2	123695239	0.001000	0.12720	0.939000	0.37840	0.187000	0.23431	0.995000	0.29706	0.712000	0.32039	0.324000	0.21423	GAA		0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		104	409	0	0	0	1	0	104	409				
SLC7A7	9056	broad.mit.edu	37	14	23240499	23240499	+	IGR	SNP	G	G	A	rs145104436	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23240499G>A	ENST00000397532.3	-	0	2447				OXA1L_ENST00000358043.5_Silent_p.T359T|OXA1L_ENST00000604262.1_Silent_p.T375T|OXA1L_ENST00000412791.1_Intron|SLC7A7_ENST00000554061.1_5'Flank|OXA1L_ENST00000285848.5_Silent_p.T435T			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTGAAATGACGCGTCAGCTGC	0.463																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(1075-1077)acG>acA		oxidase (cytochrome c) assembly 1-like		G		0,4406		0,0,2203	68.0	71.0	70.0		1305	-11.4	0.0	14	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	OXA1L	NM_005015.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		435/496	23240499	3,13003	2203	4300	6503	SO:0001628	intergenic_variant	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23240499G>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23240499G>A						OXA1L_ENST00000412791.1_Intron|OXA1L_ENST00000604262.1_Silent_p.T375T|OXA1L_ENST00000285848.5_Silent_p.T435T	p.T359T			Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	9	1395	+	all_cancers(95;8.44e-05)		375					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.1077G>A	CCDS9574.1																																																																																				0.463	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			53	182	0	0	0	1	0	53	182				
LYST	1130	broad.mit.edu	37	1	235970023	235970023	+	Missense_Mutation	SNP	C	C	T	rs80338647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235970023C>T	ENST00000389794.3	-	6	2587	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	LYST_ENST00000389793.2_Missense_Mutation_p.E805K|LYST_ENST00000536965.1_Missense_Mutation_p.E805K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	805					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E805K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATTTAATTCGATTATTTGA	0.318																																						ENST00000389794.3																			1	Substitution - Missense(1)	p.E805K(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	GRCh37	CD075459	LYST	D	rs80338647	c.(2413-2415)Gaa>Aaa		lysosomal trafficking regulator							67.0	65.0	66.0					1																	235970023		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235970023C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2413G>A	1.37:g.235970023C>T	ENSP00000374444:p.Glu805Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E805K|LYST_ENST00000536965.1_Missense_Mutation_p.E805K	p.E805K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2587	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	805					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2413G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171114	0.94807	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.1	5.44	5.44	0.79542	.	0.101671	0.64402	D	0.000002	T	0.76176	0.3951	M	0.62723	1.935	0.80722	D	1	P;D	0.89917	0.888;1.0	B;D	0.66196	0.327;0.942	T	0.72843	-0.4170	10	0.32370	T	0.25	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	805;805	Q99698-3;Q99698	.;LYST_HUMAN	K	805	ENSP00000374444:E805K;ENSP00000374443:E805K;ENSP00000438315:E805K	ENSP00000374443:E805K	E	-	1	0	LYST	234036646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.585000	0.87301	0.650000	0.86243	GAA		0.318	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			39	371	0	0	0	1	0	39	371				
HRH2	3274	broad.mit.edu	37	5	175110875	175110875	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110875C>A	ENST00000231683.2	+	1	2412	c.639C>A	c.(637-639)gcC>gcA	p.A213A	HRH2_ENST00000377291.2_Silent_p.A213A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	213					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGGATCAGGCCAAGAGGATCA	0.572																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(637-639)gcC>gcA		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						78.0	73.0	75.0					5																	175110875		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110875C>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.639C>A	5.37:g.175110875C>A						HRH2_ENST00000377291.2_Silent_p.A213A	p.A213A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2412	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	213					B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.639C>A	CCDS4395.1																																																																																				0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			34	437	1	0	2.09667e-21	1	2.36065e-21	34	437				
ALDH16A1	126133	broad.mit.edu	37	19	49969029	49969029	+	Missense_Mutation	SNP	C	C	T	rs377255662		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49969029C>T	ENST00000293350.4	+	13	1766	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	535						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGTTGGGGGCCGTTTCCAGGC	0.642																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1603-1605)Cgt>Tgt		aldehyde dehydrogenase 16 family, member A1		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	47.0	45.0		1450,1603	3.9	1.0	19		45	0,8600		0,0,4300	no	missense,missense	ALDH16A1	NM_001145396.1,NM_153329.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	484/752,535/803	49969029	1,13005	2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49969029C>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1603C>T	19.37:g.49969029C>T	ENSP00000293350:p.Arg535Cys					ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C|CTD-3148I10.9_ENST00000599536.1_Intron	p.R535C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	13	1766	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	535					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1603C>T	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249887	0.80024	2.27E-4	0.0	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.05	3.94	0.45596	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.723110	0.13548	N	0.379647	T	0.28797	0.0714	N	0.08118	0	0.43226	D	0.995112	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.56278	0.795;0.53;0.628	T	0.20438	-1.0275	10	0.87932	D	0	-19.8971	11.934	0.52864	0.1745:0.8255:0.0:0.0	.	372;484;535	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	C	535;484;372;370	ENSP00000293350:R535C;ENSP00000410142:R484C;ENSP00000445088:R372C;ENSP00000398675:R370C	ENSP00000293350:R535C	R	+	1	0	ALDH16A1	54660841	0.637000	0.27216	1.000000	0.80357	0.990000	0.78478	1.559000	0.36320	2.349000	0.79799	0.561000	0.74099	CGT		0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		92	329	0	0	0	1	0	92	329				
TRAM1	23471	broad.mit.edu	37	8	71508556	71508556	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71508556C>T	ENST00000262213.2	-	5	596	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site_p.E112K|TRAM1_ENST00000521425.1_Splice_Site_p.E57K	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	143	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGTAGTTTTCCTAAGAAAGA	0.373																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.e5-1		translocation associated membrane protein 1							109.0	108.0	108.0					8																	71508556		2203	4300	6503	SO:0001630	splice_region_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71508556C>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.427-1G>A	8.37:g.71508556C>T						TRAM1_ENST00000536748.1_Splice_Site_p.E112_splice|TRAM1_ENST00000262213.2_Splice_Site_p.E143_splice|TRAM1_ENST00000521049.1_Intron	p.E57_splice			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		5	1205	-			143					B4E0K2	Splice_Site	SNP	ENST00000262213.2	37	c.168_splice	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579000	0.96565	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.85484	-1.99;-1.99;-1.99	6.08	6.08	0.98989	TRAM/LAG1/CLN8 homology domain (3);	0.097717	0.64402	D	0.000001	D	0.93766	0.8007	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91854	0.5494	10	0.33940	T	0.23	-10.4254	20.6721	0.99693	0.0:1.0:0.0:0.0	.	143	Q15629	TRAM1_HUMAN	K	57;143;112	ENSP00000428052:E57K;ENSP00000262213:E143K;ENSP00000439359:E112K	ENSP00000262213:E143K	E	-	1	0	TRAM1	71671110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.909000	0.75735	2.894000	0.99253	0.591000	0.81541	GAA		0.373	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	Missense_Mutation	73	313	0	0	0	1	0	73	313				
PHLPP2	23035	broad.mit.edu	37	16	71683709	71683709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71683709C>T	ENST00000568954.1	-	19	3434	c.3056G>A	c.(3055-3057)aGc>aAc	p.S1019N	PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S952N|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1019	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAGCCATAGCTCTGCGCTAA	0.493																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2854-2856)aGc>aAc		PH domain and leucine rich repeat protein phosphatase 2							226.0	209.0	215.0					16																	71683709		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683709C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3056G>A	16.37:g.71683709C>T	ENSP00000457991:p.Ser1019Asn					PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S1019N|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N	p.S952N			Q6ZVD8	PHLP2_HUMAN			17	3588	-			1019			PP2C-like.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2855G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511836	0.85389	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.17528	2.27;2.27	5.9	5.9	0.94986	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.07673	-1.0760	10	0.59425	D	0.04	-19.9405	19.2671	0.93993	0.0:1.0:0.0:0.0	.	952;1019	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	N	1019;952	ENSP00000348611:S1019N;ENSP00000377159:S952N	ENSP00000348611:S1019N	S	-	2	0	PHLPP2	70241210	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	AGC		0.493	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		191	757	0	0	0	1	0	191	757				
PSTPIP1	9051	broad.mit.edu	37	15	77325208	77325208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77325208G>A	ENST00000558012.1	+	12	1333	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	282					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCAGCTCCGGTGCCCTACCA	0.647																																						ENST00000558012.1																			0				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(844-846)Gtg>Atg		proline-serine-threonine phosphatase interacting protein 1							22.0	21.0	22.0					15																	77325208		1893	4091	5984	SO:0001583	missense	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77325208G>A	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.844G>A	15.37:g.77325208G>A	ENSP00000452746:p.Val282Met					PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000557995.1_3'UTR	p.V282M	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN			12	1333	+			282					B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	37	c.844G>A	CCDS45312.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503751	0.44558	.	.	ENSG00000140368	ENST00000379595	T	0.46819	0.86	4.34	3.41	0.39046	.	0.504438	0.20542	N	0.090290	T	0.30135	0.0755	L	0.36672	1.1	0.80722	D	1	P	0.44986	0.847	B	0.35931	0.214	T	0.04650	-1.0936	10	0.33940	T	0.23	-25.3733	7.2166	0.25963	0.1182:0.0:0.8818:0.0	.	282	O43586	PPIP1_HUMAN	M	282	ENSP00000368914:V282M	ENSP00000368914:V282M	V	+	1	0	PSTPIP1	75112263	0.883000	0.30277	0.997000	0.53966	0.601000	0.36947	1.653000	0.37323	2.357000	0.79964	0.462000	0.41574	GTG		0.647	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		13	26	0	0	0	1	0	13	26				
SCYL2	55681	broad.mit.edu	37	12	100707216	100707216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100707216C>A	ENST00000360820.2	+	7	1306	c.869C>A	c.(868-870)tCt>tAt	p.S290Y		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CGTTTAGGATCTAGTTCACTT	0.294																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(868-870)tCt>tAt		SCY1-like 2 (S. cerevisiae)							73.0	65.0	68.0					12																	100707216		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100707216C>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.869C>A	12.37:g.100707216C>A	ENSP00000354061:p.Ser290Tyr						p.S290Y	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			7	1306	+			290			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.869C>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	6.279	0.419668	0.11928	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.73575	-0.76;-0.76	5.87	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.165039	0.56097	D	0.000031	T	0.68778	0.3038	L	0.58810	1.83	0.54753	D	0.999986	B	0.20164	0.042	B	0.23018	0.043	T	0.64984	-0.6278	10	0.02654	T	1	.	17.2775	0.87120	0.0:0.8745:0.1255:0.0	.	290	Q6P3W7	SCYL2_HUMAN	Y	290;117;290	ENSP00000448366:S290Y;ENSP00000354061:S290Y	ENSP00000258506:S117Y	S	+	2	0	SCYL2	99231347	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.285000	0.58989	1.507000	0.48752	-0.196000	0.12772	TCT		0.294	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		6	213	1	0	0.00116845	1	0.00118049	6	213				
OC90	729330	broad.mit.edu	37	8	133053837	133053837	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133053837G>A	ENST00000443356.2	-	5	365	c.279C>T	c.(277-279)gaC>gaT	p.D93D	OC90_ENST00000254627.3_Silent_p.D93D|OC90_ENST00000603859.1_Silent_p.D93D|OC90_ENST00000262283.5_Silent_p.D289D			Q02509	OC90_HUMAN	otoconin 90	93	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTTCAAAGTCTCGGGGGC	0.512																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(865-867)gaC>gaT		otoconin 90							47.0	49.0	49.0					8																	133053837		1998	4164	6162	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053837G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.279C>T	8.37:g.133053837G>A						OC90_ENST00000254627.3_Silent_p.D93D|OC90_ENST00000443356.2_Silent_p.D93D|OC90_ENST00000603859.1_Silent_p.D93D	p.D289D			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	966	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		93					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.867C>T																																																																																					0.512	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		40	174	0	0	0	1	0	40	174				
FRG1B	284802	broad.mit.edu	37	20	29623201	29623201	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29623201A>G	ENST00000278882.3	+	3	393	c.13A>G	c.(13-15)Ata>Gta	p.I5V	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y6C|FRG1B_ENST00000358464.4_Missense_Mutation_p.I5V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	5										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAGGGAACCTATATACATGCA	0.388																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(13-15)Ata>Gta																																						SO:0001583	missense	0							g.chr20:29623201A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.13A>G	20.37:g.29623201A>G	ENSP00000278882:p.Ile5Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.Y6C|FRG1B_ENST00000358464.4_Missense_Mutation_p.I5V	p.I5V							3	393	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.13A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	6.833|6.833	0.522901|0.522901	0.13066|0.13066	.|.	.|.	ENSG00000149531|ENSG00000149531	ENST00000278882;ENST00000358464|ENST00000439954	.|T	.|0.67698	.|-0.28	1.93|1.93	1.93|1.93	0.25924|0.25924	.|.	1.064830|.	0.07313|.	U|.	0.876263|.	T|T	0.65133|0.65133	0.2662|0.2662	.|.	.|.	.|.	0.21220|0.21220	N|N	0.999753|0.999753	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58685|0.58685	-0.7593|-0.7593	6|6	0.02654|0.87932	T|D	1|0	.|.	7.8149|7.8149	0.29254|0.29254	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|C	5|6	.|ENSP00000408863:Y6C	ENSP00000278882:I5V|ENSP00000408863:Y6C	I|Y	+|+	1|2	0|0	FRG1B|FRG1B	28236862|28236862	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.254000|0.254000	0.26022|0.26022	7.836000|7.836000	0.86788|0.86788	1.147000|1.147000	0.42369|0.42369	0.347000|0.347000	0.21830|0.21830	ATA|TAT		0.388	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		59	3649	0	0	0	1	0	59	3649				
MORN3	283385	broad.mit.edu	37	12	122097217	122097217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122097217G>A	ENST00000355329.3	-	2	353	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	61						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCCTCATAGATGGCTCCTT	0.587																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(181-183)atC>atT		MORN repeat containing 3							140.0	110.0	120.0					12																	122097217		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122097217G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.183C>T	12.37:g.122097217G>A							p.I61I	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	2	353	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		61					Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.183C>T	CCDS31917.1																																																																																				0.587	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		38	330	0	0	0	1	0	38	330				
DMXL1	1657	broad.mit.edu	37	5	118485814	118485814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118485814C>T	ENST00000311085.8	+	18	4372	c.4292C>T	c.(4291-4293)aCg>aTg	p.T1431M	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1431								p.T1431M(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATGAGAGTACGTTAAGTAAA	0.338																																						ENST00000311085.8																			1	Substitution - Missense(1)	p.T1431M(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(4291-4293)aCg>aTg		Dmx-like 1							79.0	79.0	79.0					5																	118485814		2202	4299	6501	SO:0001583	missense	1657							g.chr5:118485814C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4292C>T	5.37:g.118485814C>T	ENSP00000309690:p.Thr1431Met					DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	p.T1431M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	4372	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1431						Missense_Mutation	SNP	ENST00000311085.8	37	c.4292C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	8.914	0.959535	0.18507	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10192	2.9;2.9	5.43	2.49	0.30216	.	0.861240	0.10758	N	0.637577	T	0.10423	0.0255	L	0.43152	1.355	0.09310	N	1	P;P	0.50272	0.917;0.933	B;P	0.44897	0.333;0.463	T	0.22906	-1.0203	10	0.34782	T	0.22	-0.933	4.1577	0.10268	0.2541:0.447:0.223:0.076	.	1431;1431	F5H269;Q9Y485	.;DMXL1_HUMAN	M	1431	ENSP00000309690:T1431M;ENSP00000439479:T1431M	ENSP00000309690:T1431M	T	+	2	0	DMXL1	118513713	0.001000	0.12720	0.958000	0.39756	0.802000	0.45316	0.504000	0.22626	0.760000	0.33108	0.563000	0.77884	ACG		0.338	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		92	334	0	0	0	1	0	92	334				
HMCN1	83872	broad.mit.edu	37	1	186034555	186034555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186034555G>A	ENST00000271588.4	+	49	7928	c.7699G>A	c.(7699-7701)Gta>Ata	p.V2567I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2567					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTCTTAATGTATTTGGTAG	0.398																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(7699-7701)Gta>Ata		hemicentin 1							63.0	61.0	62.0					1																	186034555		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186034555G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7699G>A	1.37:g.186034555G>A	ENSP00000271588:p.Val2567Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	p.V2567I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			49	7928	+			2567					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7699G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369318	0.82463	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.74209	-0.82;-0.82	5.55	5.55	0.83447	Immunoglobulin I-set (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	L	0.51914	1.62	0.80722	D	1	D	0.56035	0.974	D	0.73380	0.98	T	0.83154	-0.0102	10	0.49607	T	0.09	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	2567	Q96RW7	HMCN1_HUMAN	I	2567	ENSP00000271588:V2567I;ENSP00000356462:V2567I	ENSP00000271588:V2567I	V	+	1	0	HMCN1	184301178	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	GTA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	122	0	0	0	1	0	18	122				
CYB5R1	51706	broad.mit.edu	37	1	202934626	202934626	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202934626G>T	ENST00000367249.4	-	5	422	c.348C>A	c.(346-348)gtC>gtA	p.V116V	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	116	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	CCTTCAGGTAGACCTTACAAG	0.507																																						ENST00000367249.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(346-348)gtC>gtA		cytochrome b5 reductase 1							111.0	105.0	107.0					1																	202934626		2203	4300	6503	SO:0001819	synonymous_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202934626G>T	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.348C>A	1.37:g.202934626G>T							p.V116V	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		5	422	-			116			FAD-binding FR-type.		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	37	c.348C>A	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823595	0.32237	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	-0.626	0.11544	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	-5.3569	9.1318	0.36850	0.1388:0.4715:0.3897:0.0	.	.	.	.	Y	48	.	.	S	-	2	0	CYB5R1	201201249	0.985000	0.35326	0.968000	0.41197	0.867000	0.49689	0.224000	0.17738	-0.365000	0.08076	0.591000	0.81541	TCT		0.507	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		51	606	1	0	1.67886e-27	1	1.94484e-27	51	606				
LCTL	197021	broad.mit.edu	37	15	66857032	66857032	+	Silent	SNP	G	G	A	rs544840401	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66857032G>A	ENST00000341509.5	-	2	395	c.264C>T	c.(262-264)gaC>gaT	p.D88D	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	88					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.D88D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTAGTAGCCGTCACAGGCTA	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		22426	0.0		0.0	False		,,,				2504	0.0031					ENST00000341509.5																			1	Substitution - coding silent(1)	p.D88D(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(262-264)gaC>gaT		lactase-like							192.0	125.0	148.0					15																	66857032		2201	4299	6500	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66857032G>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.264C>T	15.37:g.66857032G>A						LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	p.D88D	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			2	395	-			88					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.264C>T	CCDS10220.1																																																																																				0.597	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		78	286	0	0	0	1	0	78	286				
COL6A3	1293	broad.mit.edu	37	2	238274604	238274604	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238274604C>T	ENST00000295550.4	-	12	6027	c.5575G>A	c.(5575-5577)Gag>Aag	p.E1859K	COL6A3_ENST00000472056.1_Missense_Mutation_p.E1252K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1653K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1659K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1658K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1653K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1859	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTTGGACTCGAAGCCCTTC	0.542																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5575-5577)Gag>Aag		collagen, type VI, alpha 3							79.0	80.0	79.0					2																	238274604		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274604C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5575G>A	2.37:g.238274604C>T	ENSP00000295550:p.Glu1859Lys					COL6A3_ENST00000353578.4_Missense_Mutation_p.E1653K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1252K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1653K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1658K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1659K	p.E1859K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6027	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1859			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5575G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521731	0.27211	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.44	5.44	0.79542	von Willebrand factor, type A (2);	0.000000	0.56097	D	0.000038	T	0.60715	0.2290	M	0.72894	2.215	0.50632	D	0.999884	D;D;D	0.76494	0.997;0.999;0.996	P;P;P	0.62089	0.716;0.898;0.557	T	0.61083	-0.7134	10	0.51188	T	0.08	.	15.177	0.72920	0.0:0.8595:0.1405:0.0	.	1252;1653;1859	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	K	1859;1658;1653;1252;1653;1659	ENSP00000295550:E1859K;ENSP00000315609:E1658K;ENSP00000315873:E1653K;ENSP00000418285:E1252K;ENSP00000386844:E1653K;ENSP00000295546:E1659K	ENSP00000295550:E1859K	E	-	1	0	COL6A3	237939343	1.000000	0.71417	0.991000	0.47740	0.242000	0.25591	4.530000	0.60595	2.723000	0.93209	0.655000	0.94253	GAG		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		14	745	0	0	0	1	0	14	745				
MYNN	55892	broad.mit.edu	37	3	169496762	169496762	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169496762T>C	ENST00000349841.5	+	3	1136	c.473T>C	c.(472-474)gTa>gCa	p.V158A	MYNN_ENST00000356716.4_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|MYNN_ENST00000392733.1_Missense_Mutation_p.V158A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	158					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAATCAGAAGTATCTACAGAT	0.363																																						ENST00000349841.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(472-474)gTa>gCa		myoneurin							47.0	50.0	49.0					3																	169496762		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169496762T>C	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.473T>C	3.37:g.169496762T>C	ENSP00000326240:p.Val158Ala					MYNN_ENST00000392733.1_Missense_Mutation_p.V158A|MYNN_ENST00000356716.4_Missense_Mutation_p.V158A|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA	p.V158A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	1136	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		158					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.473T>C	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	T	1.054	-0.674914	0.03378	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.09163	3.19;3.19;3.01;3.01	5.35	-1.78	0.07957	.	0.717193	0.13188	N	0.407007	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42716	-0.9435	10	0.09338	T	0.73	.	1.5239	0.02521	0.1183:0.2205:0.2597:0.4016	.	158;158	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	A	158	ENSP00000349150:V158A;ENSP00000326240:V158A;ENSP00000376492:V158A;ENSP00000440637:V158A	ENSP00000326240:V158A	V	+	2	0	MYNN	170979456	0.035000	0.19736	0.322000	0.25334	0.931000	0.56810	0.174000	0.16743	-0.229000	0.09854	0.528000	0.53228	GTA		0.363	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		9	208	0	0	0	1	0	9	208				
STRIP2	57464	broad.mit.edu	37	7	129100202	129100202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129100202C>T	ENST00000249344.2	+	13	1505	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	STRIP2_ENST00000435494.2_Missense_Mutation_p.P489S	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	489					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GGAGAAGTGCCCTATGTCTTT	0.473																																						ENST00000249344.2																			0											c.(1465-1467)Cct>Tct		striatin interacting protein 2							95.0	84.0	88.0					7																	129100202		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129100202C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1465C>T	7.37:g.129100202C>T	ENSP00000249344:p.Pro489Ser					STRIP2_ENST00000435494.2_Missense_Mutation_p.P489S	p.P489S	NM_020704.2	NP_065755.1					13	1505	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.1465C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031588	0.75504	.	.	ENSG00000128578	ENST00000249344;ENST00000435494;ENST00000450266	T;T	0.49139	0.8;0.79	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.81179	2.53	0.80722	D	1	D;P	0.89917	1.0;0.799	D;P	0.91635	0.999;0.477	T	0.72218	-0.4357	10	0.45353	T	0.12	-20.921	18.3508	0.90338	0.0:1.0:0.0:0.0	.	489;489	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	S	489;489;160	ENSP00000249344:P489S;ENSP00000392393:P489S	ENSP00000249344:P489S	P	+	1	0	FAM40B	128887438	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.646000	0.67916	2.550000	0.86006	0.591000	0.81541	CCT		0.473	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		21	84	0	0	0	1	0	21	84				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		9	449	0	0	0	1	0	9	449				
ADAMTS16	170690	broad.mit.edu	37	5	5306714	5306714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306714G>A	ENST00000274181.7	+	21	3422	c.3284G>A	c.(3283-3285)tGc>tAc	p.C1095Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1095	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAAAGAAGTGCTCACATTTG	0.542																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3283-3285)tGc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							67.0	68.0	68.0					5																	5306714		1935	4137	6072	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306714G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3284G>A	5.37:g.5306714G>A	ENSP00000274181:p.Cys1095Tyr						p.C1095Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			21	3422	+			1095			TSP type-1 5.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3284G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030328	0.35797	.	.	ENSG00000145536	ENST00000274181	T	0.72835	-0.69	5.51	4.61	0.57282	.	0.115575	0.64402	D	0.000013	T	0.76478	0.3993	M	0.90870	3.155	0.49130	D	0.999753	B	0.15141	0.012	B	0.21917	0.037	T	0.76310	-0.3006	10	0.87932	D	0	.	11.3249	0.49442	0.0:0.0:0.8181:0.1819	.	1095	Q8TE57	ATS16_HUMAN	Y	1095	ENSP00000274181:C1095Y	ENSP00000274181:C1095Y	C	+	2	0	ADAMTS16	5359714	1.000000	0.71417	0.921000	0.36526	0.117000	0.20001	7.121000	0.77160	1.262000	0.44165	0.561000	0.74099	TGC		0.542	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		74	277	0	0	0	1	0	74	277				
QRICH1	54870	broad.mit.edu	37	3	49094859	49094859	+	Silent	SNP	G	G	A	rs200111153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49094859G>A	ENST00000395443.2	-	3	1246	c.774C>T	c.(772-774)taC>taT	p.Y258Y	QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Silent_p.Y258Y|QRICH1_ENST00000424300.1_Silent_p.Y258Y	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	258	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGAGATGGCGTAGGACACAG	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19888	0.0		0.0	False		,,,				2504	0.0					ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(772-774)taC>taT		glutamine-rich 1							57.0	55.0	56.0					3																	49094859		2203	4300	6503	SO:0001819	synonymous_variant	54870							g.chr3:49094859G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.774C>T	3.37:g.49094859G>A						QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Silent_p.Y258Y|QRICH1_ENST00000357496.2_Silent_p.Y258Y	p.Y258Y	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1246	-			258			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.774C>T	CCDS2787.1																																																																																				0.612	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		70	370	0	0	0	1	0	70	370				
ZNF280A	129025	broad.mit.edu	37	22	22868833	22868833	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22868833T>G	ENST00000302097.3	-	2	1374	c.1122A>C	c.(1120-1122)gaA>gaC	p.E374D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTGATCTGTTTCAAATGACA	0.488																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1120-1122)gaA>gaC		zinc finger protein 280A							101.0	90.0	94.0					22																	22868833		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868833T>G	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1122A>C	22.37:g.22868833T>G	ENSP00000302855:p.Glu374Asp						p.E374D	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1374	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	374						Missense_Mutation	SNP	ENST00000302097.3	37	c.1122A>C	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451797	0.43531	.	.	ENSG00000169548	ENST00000302097	T	0.28069	1.63	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.34221	0.0890	L	0.46819	1.47	0.22389	N	0.99915	P	0.46706	0.883	P	0.47134	0.539	T	0.11542	-1.0583	9	0.51188	T	0.08	0.4225	11.3489	0.49577	0.0:0.0:0.0:1.0	.	374	P59817	Z280A_HUMAN	D	374	ENSP00000302855:E374D	ENSP00000302855:E374D	E	-	3	2	ZNF280A	21198833	1.000000	0.71417	0.497000	0.27552	0.382000	0.30200	1.081000	0.30791	1.988000	0.58038	0.533000	0.62120	GAA		0.488	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		83	417	0	0	0	1	0	83	417				
LRRFIP1	9208	broad.mit.edu	37	2	238688109	238688109	+	Silent	SNP	C	C	T	rs368929531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238688109C>T	ENST00000308482.9	+	24	1926	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	468					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGTGAGCAACGGCCACTTAG	0.483																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1855-1857)aaC>aaT		leucine rich repeat (in FLII) interacting protein 1		C	,	0,3136		0,0,1568	71.0	66.0	68.0		1857,1119	-0.1	1.0	2		68	1,7163		0,1,3581	no	coding-synonymous,coding-synonymous	LRRFIP1	NM_001137550.1,NM_001137551.1	,	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	,	619/641,373/395	238688109	1,10299	1568	3582	5150	SO:0001819	synonymous_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238688109C>T	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1857C>T	2.37:g.238688109C>T							p.N619N	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	24	1926	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	306					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000308482.9	37	c.1857C>T	CCDS46551.1																																																																																				0.483	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		46	119	0	0	0	1	0	46	119				
ZNF236	7776	broad.mit.edu	37	18	74561610	74561610	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74561610G>A	ENST00000253159.8	+	2	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	60					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGGATCACGAGCGAAATGA	0.358																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(178-180)Gag>Aag		zinc finger protein 236							65.0	62.0	63.0					18																	74561610		1875	4104	5979	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74561610G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.178G>A	18.37:g.74561610G>A	ENSP00000253159:p.Glu60Lys					ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	p.E60K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	2	376	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	60					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.178G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244485	0.79912	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.16743	2.32;2.32	5.65	5.65	0.86999	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.20483	0.58	0.46725	D	0.999171	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.766	T	0.05305	-1.0893	10	0.20519	T	0.43	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	60;60	Q9NWI2;Q9UL36	.;ZN236_HUMAN	K	60	ENSP00000253159:E60K;ENSP00000444524:E60K	ENSP00000253159:E60K	E	+	1	0	ZNF236	72690598	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.692000	0.68256	2.668000	0.90789	0.655000	0.94253	GAG		0.358	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			42	164	0	0	0	1	0	42	164				
GABRA2	2555	broad.mit.edu	37	4	46252622	46252622	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46252622C>A	ENST00000510861.1	-	10	1233		c.e10-1		GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTCTTTTTTCTATTGAAAAA	0.368																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.e10-1		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						48.0	50.0	49.0					4																	46252622		2203	4298	6501	SO:0001630	splice_region_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252622C>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1060-1G>T	4.37:g.46252622C>A						GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site				P47869	GBRA2_HUMAN			10	1233	-								A8K0U7|B7Z1H8|Q59G14	Splice_Site	SNP	ENST00000510861.1	37		CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776042	0.70107	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRA2	45947379	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.647000	0.46639	2.827000	0.97445	0.655000	0.94253	.		0.368	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		Intron	58	295	1	0	4.46115e-38	1	5.36847e-38	58	295				
PDE5A	8654	broad.mit.edu	37	4	120474867	120474867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120474867C>T	ENST00000354960.3	-	8	1553	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T|PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	412	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ACATACTGAGCATACATGTAA	0.343																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1234-1236)Gct>Act		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						224.0	217.0	219.0					4																	120474867		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120474867C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1234G>A	4.37:g.120474867C>T	ENSP00000347046:p.Ala412Thr					PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T|PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T	p.A412T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			8	1553	-			412			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1234G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610356	0.66558	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68331	-0.32;-0.32;-0.32	5.82	5.82	0.92795	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.56340	1.77	0.80722	D	1	B;B	0.26708	0.011;0.157	B;B	0.27380	0.077;0.079	T	0.60677	-0.7216	10	0.36615	T	0.2	.	19.707	0.96076	0.0:1.0:0.0:0.0	.	412;370	O76074;O76074-2	PDE5A_HUMAN;.	T	412;360;370	ENSP00000347046:A412T;ENSP00000377957:A360T;ENSP00000264805:A370T	ENSP00000264805:A370T	A	-	1	0	PDE5A	120694315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.751000	0.94390	0.650000	0.86243	GCT		0.343	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		67	301	0	0	0	1	0	67	301				
RALB	5899	broad.mit.edu	37	2	121047235	121047235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121047235C>T	ENST00000272519.5	+	4	673	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RALB_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.R135W|RALB_ENST00000404963.3_Missense_Mutation_p.R156W	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	135					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CCTAGAGGAGCGGAGGCAGGT	0.547																																						ENST00000272519.5																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(403-405)Cgg>Tgg		v-ral simian leukemia viral oncogene homolog B							106.0	110.0	109.0					2																	121047235		2203	4300	6503	SO:0001583	missense	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121047235C>T		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.403C>T	2.37:g.121047235C>T	ENSP00000272519:p.Arg135Trp					RALB_ENST00000404963.3_Missense_Mutation_p.R156W|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000420510.1_Missense_Mutation_p.R135W	p.R135W	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN			4	673	+		Prostate(154;0.122)	135					B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	c.403C>T	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757807	0.89843	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.4	4.48	0.54585	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	L	0.56769	1.78	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.68765	0.96;0.948;0.942	D	0.85333	0.1091	10	0.87932	D	0	.	13.5281	0.61607	0.274:0.726:0.0:0.0	.	157;156;135	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	W	157;157;135;135;156;135	ENSP00000402866:R157W;ENSP00000438764:R157W;ENSP00000272519:R135W;ENSP00000414224:R135W;ENSP00000384328:R156W;ENSP00000398162:R135W	ENSP00000272519:R135W	R	+	1	2	RALB	120763705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.589000	0.61006	2.813000	0.96785	0.561000	0.74099	CGG		0.547	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		63	516	0	0	0	1	0	63	516				
KCNH5	27133	broad.mit.edu	37	14	63473112	63473112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63473112G>T	ENST00000322893.7	-	3	544	c.276C>A	c.(274-276)tgC>tgA	p.C92*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	92	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAACTTCAAAGCAGTTTGATT	0.353																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(274-276)tgC>tgA		potassium voltage-gated channel, subfamily H (eag-related), member 5							101.0	98.0	99.0					14																	63473112		2202	4299	6501	SO:0001587	stop_gained	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63473112G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.276C>A	14.37:g.63473112G>T	ENSP00000321427:p.Cys92*					KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*	p.C92*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	3	544	-			92			PAC.		C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	c.276C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643477	0.96704	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	.	.	.	5.35	0.143	0.14820	.	0.046540	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0009	0.36081	0.4595:0.0:0.5405:0.0	.	.	.	.	X	92;92;34;34	.	ENSP00000321427:C92X	C	-	3	2	KCNH5	62542865	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	1.085000	0.30840	-0.203000	0.10251	0.655000	0.94253	TGC		0.353	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		40	271	1	0	1.49673e-21	1	1.68722e-21	40	271				
CEP152	22995	broad.mit.edu	37	15	49089912	49089912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49089912C>T	ENST00000380950.2	-	4	394	c.207G>A	c.(205-207)gaG>gaA	p.E69E	CEP152_ENST00000325747.5_Silent_p.E69E|CEP152_ENST00000399334.3_Silent_p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	69					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E69E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTCCAATTGCTCAGGATGAT	0.388																																						ENST00000380950.2																			1	Substitution - coding silent(1)	p.E69E(1)	large_intestine(1)	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(205-207)gaG>gaA		centrosomal protein 152kDa							170.0	154.0	159.0					15																	49089912		1939	4136	6075	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49089912C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.207G>A	15.37:g.49089912C>T						CEP152_ENST00000325747.5_Silent_p.E69E|CEP152_ENST00000399334.3_Silent_p.E69E	p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	4	394	-		all_lung(180;0.0428)	69					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.207G>A	CCDS58361.1																																																																																				0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		96	408	0	0	0	1	0	96	408				
KIAA0232	9778	broad.mit.edu	37	4	6863883	6863883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6863883G>A	ENST00000307659.5	+	7	2229	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	592							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCAGTTTTGGGAGTGCTGTTC	0.522																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(1774-1776)Gag>Aag		KIAA0232							177.0	165.0	169.0					4																	6863883		1981	4170	6151	SO:0001583	missense	9778						ATP binding	g.chr4:6863883G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1774G>A	4.37:g.6863883G>A	ENSP00000303928:p.Glu592Lys					KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	p.E592K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2229	+			592					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.1774G>A	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875666	0.72180	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.7	5.7	0.88788	.	0.159069	0.56097	D	0.000028	T	0.61565	0.2357	M	0.64997	1.995	0.80722	D	1	P	0.46142	0.873	B	0.42361	0.385	T	0.66528	-0.5901	9	0.66056	D	0.02	-25.0728	19.8218	0.96599	0.0:0.0:1.0:0.0	.	592	Q92628	K0232_HUMAN	K	592	.	ENSP00000303928:E592K	E	+	1	0	KIAA0232	6914784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.386000	0.97228	2.678000	0.91216	0.655000	0.94253	GAG		0.522	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		86	407	0	0	0	1	0	86	407				
YWHAB	7529	broad.mit.edu	37	20	43530459	43530459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43530459C>T	ENST00000372839.3	+	3	559	c.285C>T	c.(283-285)atC>atT	p.I95I	YWHAB_ENST00000353703.4_Silent_p.I95I|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	95					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGCAGGACATCTGCAATGATG	0.413																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(283-285)atC>atT		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							102.0	98.0	99.0					20																	43530459		2203	4300	6503	SO:0001819	synonymous_variant	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43530459C>T	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.285C>T	20.37:g.43530459C>T						YWHAB_ENST00000353703.4_Silent_p.I95I|YWHAB_ENST00000479421.1_3'UTR	p.I95I	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			3	559	+		Myeloproliferative disorder(115;0.0122)	95					A8K9K2|E1P616	Silent	SNP	ENST00000372839.3	37	c.285C>T	CCDS13339.1																																																																																				0.413	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		82	383	0	0	0	1	0	82	383				
COL6A3	1293	broad.mit.edu	37	2	238283139	238283139	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238283139G>C	ENST00000295550.4	-	8	4047	c.3595C>G	c.(3595-3597)Cag>Gag	p.Q1199E	COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1199	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGATGACCTGTTGGACGGTC	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3595-3597)Cag>Gag		collagen, type VI, alpha 3							72.0	63.0	66.0					2																	238283139		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283139G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3595C>G	2.37:g.238283139G>C	ENSP00000295550:p.Gln1199Glu					COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E	p.Q1199E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	4047	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1199			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3595C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442636	0.43326	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.97	4.97	0.65823	von Willebrand factor, type A (2);	0.000000	0.49916	D	0.000138	T	0.62245	0.2412	L	0.38649	1.16	0.54753	D	0.999981	D;B;P;D;P	0.55172	0.97;0.107;0.594;0.963;0.592	D;B;P;P;B	0.63877	0.919;0.062;0.547;0.867;0.306	T	0.58047	-0.7705	10	0.30854	T	0.27	.	18.6288	0.91352	0.0:0.0:1.0:0.0	.	592;792;993;993;1199	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1199;998;993;592;993;999;993;792	ENSP00000295550:Q1199E;ENSP00000315609:Q998E;ENSP00000315873:Q993E;ENSP00000418285:Q592E;ENSP00000386844:Q993E;ENSP00000295546:Q999E;ENSP00000375861:Q993E;ENSP00000375860:Q792E	ENSP00000295550:Q1199E	Q	-	1	0	COL6A3	237947878	1.000000	0.71417	0.941000	0.38009	0.510000	0.34073	4.218000	0.58554	2.477000	0.83638	0.655000	0.94253	CAG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		91	285	0	0	0	1	0	91	285				
FOXD4	2298	broad.mit.edu	37	9	117437	117437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117437C>T	ENST00000382500.2	-	1	980	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	228	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R228H(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGGCCTGGGCGGGGGTTGTG	0.741																																						ENST00000382500.2																			1	Substitution - Missense(1)	p.R228H(1)	skin(1)	endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(682-684)cGc>cAc		forkhead box D4							19.0	31.0	27.0					9																	117437		1322	2695	4017	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117437C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.683G>A	9.37:g.117437C>T	ENSP00000371940:p.Arg228His						p.R228H	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	980	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	228			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.683G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	3.441	-0.114120	0.06881	.	.	ENSG00000170122	ENST00000382500	D	0.94723	-3.5	1.69	0.405	0.16361	.	.	.	.	.	T	0.80999	0.4732	N	0.03608	-0.345	0.21355	N	0.999716	B	0.06786	0.001	B	0.01281	0.0	T	0.68534	-0.5383	9	0.07644	T	0.81	.	4.2202	0.10554	0.0:0.1344:0.2029:0.6628	.	228	Q12950	FOXD4_HUMAN	H	228	ENSP00000371940:R228H	ENSP00000371940:R228H	R	-	2	0	FOXD4	107437	0.072000	0.21174	0.005000	0.12908	0.226000	0.24999	0.211000	0.17474	-0.288000	0.09051	-1.039000	0.02377	CGC		0.741	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		57	483	0	0	0	1	0	57	483				
LAMC2	3918	broad.mit.edu	37	1	183200178	183200178	+	Silent	SNP	C	C	T	rs370673817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183200178C>T	ENST00000264144.4	+	12	1862	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G	LAMC2_ENST00000493293.1_Silent_p.G599G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	599	Laminin EGF-like 8; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GATTTGGTGGCCCCAACTGTG	0.498																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1795-1797)ggC>ggT		laminin, gamma 2							199.0	174.0	183.0					1																	183200178		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183200178C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1797C>T	1.37:g.183200178C>T						LAMC2_ENST00000493293.1_Silent_p.G599G	p.G599G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			12	1862	+			599			Laminin EGF-like 8; truncated.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.1797C>T	CCDS1352.1																																																																																				0.498	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		64	321	0	0	0	1	0	64	321				
KRT1	3848	broad.mit.edu	37	12	53073598	53073598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53073598G>A	ENST00000252244.3	-	1	593	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCCCTTTCTCGAGACTTCACC	0.498																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(535-537)Cga>Tga		keratin 1							255.0	238.0	244.0					12																	53073598		2203	4300	6503	SO:0001587	stop_gained	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53073598G>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.535C>T	12.37:g.53073598G>A	ENSP00000252244:p.Arg179*						p.R179*	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			1	593	-			179		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).	Head.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Nonsense_Mutation	SNP	ENST00000252244.3	37	c.535C>T	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.742985	0.96873	.	.	ENSG00000167768	ENST00000252244	.	.	.	4.61	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.0804	0.64917	0.0:0.4309:0.5691:0.0	.	.	.	.	X	179	.	ENSP00000252244:R179X	R	-	1	2	KRT1	51359865	0.263000	0.24083	0.917000	0.36280	0.919000	0.55068	1.490000	0.35573	1.057000	0.40506	0.448000	0.29417	CGA		0.498	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		106	521	0	0	0	1	0	106	521				
TNS1	7145	broad.mit.edu	37	2	218749800	218749800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218749800C>T	ENST00000171887.4	-	14	1281	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	TNS1_ENST00000430930.1_Missense_Mutation_p.G277R|TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000419504.1_Missense_Mutation_p.G277R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	277	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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)		AAGACAACCCCCAGGTCATGG	0.587																																						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.(829-831)Ggg>Agg		tensin 1							131.0	107.0	115.0					2																	218749800		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218749800C>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.829G>A	2.37:g.218749800C>T	ENSP00000171887:p.Gly277Arg					TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000419504.1_Missense_Mutation_p.G277R|TNS1_ENST00000430930.1_Missense_Mutation_p.G277R	p.G277R	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)	14	1281	-		Renal(207;0.0483)|Lung NSC(271;0.213)	277			C2 tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.829G>A	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.533073|1.533073	0.27387|0.27387	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.84146	.|-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.83|4.83	3.96|3.96	0.45880|0.45880	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.	.|.	.|.	.|.	D|D	0.83238|0.83238	0.5211|0.5211	N|N	0.16130|0.16130	0.375|0.375	0.43977|0.43977	D|D	0.996663|0.996663	.|P;B;B;D;D;D	.|0.69078	.|0.9;0.036;0.02;0.994;0.991;0.997	.|P;B;B;D;D;D	.|0.69824	.|0.493;0.105;0.038;0.966;0.93;0.955	T|T	0.79356|0.79356	-0.1837|-0.1837	5|9	.|0.17369	.|T	.|0.5	.|.	13.0506|13.0506	0.58952|0.58952	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	.|277;331;308;277;277;277	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	E|R	52|277;277;277;402;345;308	.|ENSP00000171887:G277R;ENSP00000408724:G277R;ENSP00000406016:G277R;ENSP00000405460:G402R;ENSP00000400383:G345R;ENSP00000308321:G308R	.|ENSP00000171887:G277R	G|G	-|-	2|1	0|0	TNS1|TNS1	218458045|218458045	0.467000|0.467000	0.25831|0.25831	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	2.458000|2.458000	0.45014|0.45014	1.249000|1.249000	0.43950|0.43950	0.563000|0.563000	0.77884|0.77884	GGG|GGG		0.587	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		79	308	0	0	0	1	0	79	308				
ADAP2	55803	broad.mit.edu	37	17	29250056	29250056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29250056C>T	ENST00000330889.3	+	2	528	c.193C>T	c.(193-195)Cga>Tga	p.R65*	ADAP2_ENST00000580525.1_Nonsense_Mutation_p.R65*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	65	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAAATCTGTGCGACTTGACTT	0.567																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(193-195)Cga>Tga		ArfGAP with dual PH domains 2							158.0	155.0	156.0					17																	29250056		2203	4300	6503	SO:0001587	stop_gained	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29250056C>T	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.193C>T	17.37:g.29250056C>T	ENSP00000329468:p.Arg65*					ADAP2_ENST00000580525.1_Nonsense_Mutation_p.R65*	p.R65*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			2	528	+			65			Arf-GAP.		Q8N4Q6|Q96SD5	Nonsense_Mutation	SNP	ENST00000330889.3	37	c.193C>T	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021109	0.93462	.	.	ENSG00000184060	ENST00000330889	.	.	.	5.59	0.397	0.16314	.	0.317299	0.35772	N	0.002983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3014	0.73955	0.2593:0.7407:0.0:0.0	.	.	.	.	X	65	.	ENSP00000329468:R65X	R	+	1	2	ADAP2	26274182	0.405000	0.25336	0.980000	0.43619	0.769000	0.43574	0.593000	0.23999	0.047000	0.15862	-0.397000	0.06425	CGA		0.567	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		159	672	0	0	0	1	0	159	672				
ZNF14	7561	broad.mit.edu	37	19	19822954	19822954	+	Missense_Mutation	SNP	C	C	T	rs3752153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19822954C>T	ENST00000344099.3	-	4	1274	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	379			R -> Q (in dbSNP:rs3752153).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCATGCAATCGAAGAGAAAT	0.373													C|||	10	0.00199681	0.0	0.0	5008	,	,		21811	0.0089		0.0	False		,,,				2504	0.001					ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1135-1137)cGa>cAa		zinc finger protein 14		C	GLN/ARG	0,4406		0,0,2203	95.0	95.0	95.0		1136	0.0	0.0	19	dbSNP_107	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF14	NM_021030.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	379/643	19822954	1,13005	2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822954C>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1136G>A	19.37:g.19822954C>T	ENSP00000340514:p.Arg379Gln						p.R379Q	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1274	-		Renal(1328;0.0474)	379		R -> Q (in dbSNP:rs3752153).			B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1136G>A	CCDS12409.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	7.577	0.667896	0.14710	0.0	1.16E-4	ENSG00000105708	ENST00000344099	T	0.04275	3.66	1.12	0.0113	0.14086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01222	0.0040	N	0.21282	0.65	0.09310	N	1	P	0.40250	0.709	B	0.22386	0.039	T	0.36261	-0.9755	9	0.08179	T	0.78	.	1.8944	0.03255	0.3173:0.4539:0.0:0.2288	rs3752153;rs52811487;rs3752153	379	P17017	ZNF14_HUMAN	Q	379	ENSP00000340514:R379Q	ENSP00000340514:R379Q	R	-	2	0	ZNF14	19683954	0.001000	0.12720	0.019000	0.16419	0.869000	0.49853	0.632000	0.24583	0.040000	0.15660	-0.373000	0.07131	CGA		0.373	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		85	354	0	0	0	1	0	85	354				
TIFA	92610	broad.mit.edu	37	4	113199274	113199274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199274C>T	ENST00000361717.3	-	2	580	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	100	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CAGCTCTCTGCTGTCCACGAT	0.418																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(298-300)aGc>aAc		TRAF-interacting protein with forkhead-associated domain							45.0	43.0	43.0					4																	113199274		2203	4299	6502	SO:0001583	missense	92610						protein binding	g.chr4:113199274C>T	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.299G>A	4.37:g.113199274C>T	ENSP00000354911:p.Ser100Asn					TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	p.S100N	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	580	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	100			FHA.			Missense_Mutation	SNP	ENST00000361717.3	37	c.299G>A	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.057156	0.00390	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	T;T	0.33216	1.42;1.42	5.79	-1.66	0.08265	Forkhead-associated (FHA) domain (4);	0.612544	0.19210	N	0.119945	T	0.04998	0.0134	N	0.00104	-2.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41179	-0.9523	10	0.02654	T	1	-3.6976	11.9285	0.52833	0.0:0.2501:0.0:0.7499	.	100	Q96CG3	TIFA_HUMAN	N	100	ENSP00000354911:S100N;ENSP00000424231:S100N	ENSP00000354911:S100N	S	-	2	0	TIFA	113418723	0.232000	0.23762	0.014000	0.15608	0.021000	0.10359	0.539000	0.23175	-0.544000	0.06232	-0.150000	0.13652	AGC		0.418	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		43	208	0	0	0	1	0	43	208				
FBRS	64319	broad.mit.edu	37	16	30680839	30680839	+	Missense_Mutation	SNP	C	C	T	rs146279694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680839C>T	ENST00000287468.5	+	12	1519	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	FBRS_ENST00000568722.1_Missense_Mutation_p.P331L|FBRS_ENST00000395073.2_Missense_Mutation_p.P331L|FBRS_ENST00000356166.6_Missense_Mutation_p.P939L	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	419	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			GCTGCGGCCCCGGGAACCCCT	0.716																																						ENST00000356166.6																			0				ovary(1)	1						c.(2815-2817)cCg>cTg		fibrosin		C	LEU/PRO	0,4274		0,0,2137	80.0	101.0	94.0		1256	4.1	0.9	16	dbSNP_134	94	1,8475		0,1,4237	no	missense	FBRS	NM_001105079.1	98	0,1,6374	TT,TC,CC		0.0118,0.0,0.0078	benign	419/461	30680839	1,12749	2137	4238	6375	SO:0001583	missense	64319							g.chr16:30680839C>T	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1256C>T	16.37:g.30680839C>T	ENSP00000287468:p.Pro419Leu					FBRS_ENST00000395073.2_Missense_Mutation_p.P331L|FBRS_ENST00000287468.5_Missense_Mutation_p.P419L|FBRS_ENST00000568722.1_Missense_Mutation_p.P331L	p.P939L			Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)		18	3904	+			419					B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37	c.2816C>T		.	.	.	.	.	.	.	.	.	.	C	12.29	1.893585	0.33442	0.0	1.18E-4	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32753	1.44	5.09	4.14	0.48551	.	0.344694	0.27473	N	0.019219	T	0.19406	0.0466	N	0.22421	0.69	0.50813	D	0.999891	B	0.06786	0.001	B	0.04013	0.001	T	0.04593	-1.0940	10	0.40728	T	0.16	-4.522	8.3844	0.32491	0.1539:0.7642:0.0:0.0819	.	419	Q9HAH7	FBRS_HUMAN	L	939;419;331	ENSP00000348489:P939L	ENSP00000287468:P419L	P	+	2	0	FBRS	30588340	0.947000	0.32204	0.880000	0.34516	0.974000	0.67602	2.146000	0.42216	1.383000	0.46405	0.561000	0.74099	CCG		0.716	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		25	1568	0	0	0	1	0	25	1568				
THEMIS	387357	broad.mit.edu	37	6	128176327	128176327	+	Missense_Mutation	SNP	A	A	C	rs141623918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128176327A>C	ENST00000368248.2	-	2	246	c.98T>G	c.(97-99)aTt>aGt	p.I33S	THEMIS_ENST00000543064.1_Missense_Mutation_p.I33S|THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000537166.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	33	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CATTTCATAAATAGAGCCTAA	0.289																																						ENST00000543064.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(97-99)aTt>aGt		thymocyte selection associated							37.0	37.0	37.0					6																	128176327		2201	4299	6500	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128176327A>C	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.98T>G	6.37:g.128176327A>C	ENSP00000357231:p.Ile33Ser					THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000368248.2_Missense_Mutation_p.I33S|THEMIS_ENST00000537166.1_5'UTR	p.I33S	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN			2	246	-			33			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.98T>G	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474656	0.63737	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.11604	2.76;2.76	5.73	4.57	0.56435	.	0.585491	0.17487	N	0.172463	T	0.10895	0.0266	M	0.72894	2.215	0.80722	D	1	D;B	0.57571	0.98;0.379	P;B	0.48270	0.572;0.343	T	0.01725	-1.1287	10	0.87932	D	0	-1.9501	11.4026	0.49878	0.9295:0.0:0.0705:0.0	.	33;33	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	33	ENSP00000439594:I33S;ENSP00000357231:I33S	ENSP00000357231:I33S	I	-	2	0	THEMIS	128218020	0.996000	0.38824	0.696000	0.30242	0.873000	0.50193	4.017000	0.57167	0.995000	0.38917	0.528000	0.53228	ATT		0.289	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		22	105	0	0	0	1	0	22	105				
SESN3	143686	broad.mit.edu	37	11	94924617	94924617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924617C>T	ENST00000536441.1	-	3	629	c.293G>A	c.(292-294)cGc>cAc	p.R98H	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.R20H|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|SESN3_ENST00000393234.1_Missense_Mutation_p.R98H|SESN3_ENST00000537480.1_5'Flank	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	98					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.R98L(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACCATCCATGCGCAACATGTA	0.443																																						ENST00000536441.1																			1	Substitution - Missense(1)	p.R98L(1)	lung(1)	endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(292-294)cGc>cAc		sestrin 3							202.0	176.0	185.0					11																	94924617		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94924617C>T	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.293G>A	11.37:g.94924617C>T	ENSP00000441927:p.Arg98His					RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|SESN3_ENST00000278499.2_Missense_Mutation_p.R20H|SESN3_ENST00000393234.1_Missense_Mutation_p.R98H	p.R98H	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	629	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	98					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.293G>A	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530975	0.45073	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	L	0.43757	1.38	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.71414	0.899;0.973;0.93	T	0.03240	-1.1057	10	0.18710	T	0.47	-2.0503	20.0953	0.97838	0.0:1.0:0.0:0.0	.	20;98;98	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	H	98;20;98;98	ENSP00000441927:R98H;ENSP00000278499:R20H;ENSP00000376926:R98H;ENSP00000407008:R98H	ENSP00000278499:R20H	R	-	2	0	SESN3	94564265	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.534000	0.53568	2.767000	0.95098	0.655000	0.94253	CGC		0.443	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		117	494	0	0	0	1	0	117	494				
HID1	283987	broad.mit.edu	37	17	72949126	72949126	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72949126C>A	ENST00000425042.2	-	16	2104	c.2027G>T	c.(2026-2028)gGg>gTg	p.G676V		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	676					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GCTCCACTGCCCACTGGCTGA	0.687																																						ENST00000425042.2																			0											c.(2026-2028)gGg>gTg		HID1 domain containing							25.0	22.0	23.0					17																	72949126		2202	4295	6497	SO:0001583	missense	283987							g.chr17:72949126C>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.2027G>T	17.37:g.72949126C>A	ENSP00000413520:p.Gly676Val						p.G676V	NM_030630.2	NP_085133.1					16	2104	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.2027G>T	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718034	0.30503	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.09	5.09	0.68999	.	0.256286	0.34700	N	0.003741	T	0.54806	0.1881	L	0.41824	1.3	0.80722	D	1	B	0.12630	0.006	B	0.19148	0.024	T	0.49762	-0.8905	9	0.29301	T	0.29	-22.1272	16.6701	0.85263	0.0:1.0:0.0:0.0	.	676	Q8IV36	CQ028_HUMAN	V	448;676;448	.	ENSP00000317795:G448V	G	-	2	0	C17orf28	70460721	0.775000	0.28604	1.000000	0.80357	0.037000	0.13140	2.358000	0.44134	2.372000	0.80975	0.561000	0.74099	GGG		0.687	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		18	77	1	0	1.15919e-05	1	1.1882e-05	18	77				
MAP3K15	389840	broad.mit.edu	37	X	19379653	19379653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19379653G>A	ENST00000338883.4	-	27	3737	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1246							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCGCAACCAGTCTATAAGCT	0.403																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3736-3738)gaC>gaT		mitogen-activated protein kinase kinase kinase 15							107.0	107.0	107.0					X																	19379653		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19379653G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3738C>T	X.37:g.19379653G>A						PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D	p.D1246D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			27	3737	-	Hepatocellular(33;0.183)		1246					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.3738C>T																																																																																					0.403	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		82	655	0	0	0	1	0	82	655				
CT47B1	643311	broad.mit.edu	37	X	120009228	120009228	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120009228C>A	ENST00000371311.3	-	1	551	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	99	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						cctcgttcccctcttcctcct	0.692																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(295-297)gaG>gaT		cancer/testis antigen family 47, member B1							58.0	64.0	62.0					X																	120009228		692	1590	2282	SO:0001583	missense	643311							g.chrX:120009228C>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.297G>T	X.37:g.120009228C>A	ENSP00000360360:p.Glu99Asp						p.E99D	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	551	-			99			Poly-Glu.		A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.297G>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654063	0.29425	.	.	ENSG00000236446	ENST00000371311	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.33731	0.0873	N	0.14661	0.345	0.09310	N	1	P	0.49696	0.927	D	0.67725	0.953	T	0.29518	-1.0009	7	0.18276	T	0.48	.	.	.	.	.	99	P0C2W7	CT47B_HUMAN	D	99	.	ENSP00000360360:E99D	E	-	3	2	CT47B1	119893256	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-3.375000	0.00493	0.177000	0.19895	0.179000	0.17066	GAG		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		34	145	1	0	3.03874e-20	1	3.40186e-20	34	145				
DIRAS1	148252	broad.mit.edu	37	19	2717235	2717235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717235G>A	ENST00000323469.4	-	2	753	c.570C>T	c.(568-570)cgC>cgT	p.R190R	DIRAS1_ENST00000585334.1_Silent_p.R190R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	190					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCTTGACGCGGTCTGTCC	0.667																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(568-570)cgC>cgT		DIRAS family, GTP-binding RAS-like 1							103.0	98.0	100.0					19																	2717235		2203	4298	6501	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717235G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.570C>T	19.37:g.2717235G>A						DIRAS1_ENST00000585334.1_Silent_p.R190R	p.R190R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	753	-			190						Silent	SNP	ENST00000323469.4	37	c.570C>T	CCDS12092.1																																																																																				0.667	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			76	881	0	0	0	1	0	76	881				
TUBGCP4	27229	broad.mit.edu	37	15	43692416	43692416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43692416C>T	ENST00000260383.7	+	14	1850	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Silent_p.L531L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	532					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTACTATCTCCAGGTCTGTG	0.443																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1591-1593)ctC>ctT		tubulin, gamma complex associated protein 4							134.0	132.0	133.0					15																	43692416		1923	4131	6054	SO:0001819	synonymous_variant	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43692416C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1596C>T	15.37:g.43692416C>T						TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Silent_p.L532L	p.L531L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	14	1833	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	532					B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37	c.1593C>T																																																																																					0.443	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		54	289	0	0	0	1	0	54	289				
NELL1	4745	broad.mit.edu	37	11	20948936	20948936	+	Missense_Mutation	SNP	G	G	A	rs140129150	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20948936G>A	ENST00000357134.5	+	8	994	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q|NELL1_ENST00000298925.5_Missense_Mutation_p.R309Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	281	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCTCTATCGAGATCAAGAC	0.393																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(925-927)cGa>cAa		NEL-like 1 (chicken)							127.0	120.0	123.0					11																	20948936		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20948936G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.842G>A	11.37:g.20948936G>A	ENSP00000349654:p.Arg281Gln					NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R281Q	p.R309Q			Q92832	NELL1_HUMAN			9	1079	+			281			VWFC 1.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.926G>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076534	0.94000	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.7	5.7	0.88788	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.41824	1.3	0.53688	D	0.999975	D;D;D;D	0.76494	0.999;0.999;0.987;0.999	D;D;P;D	0.80764	0.99;0.994;0.629;0.994	T	0.75158	-0.3416	10	0.30078	T	0.28	-14.2843	19.851	0.96740	0.0:0.0:1.0:0.0	.	224;309;281;281	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	309;281;224;281	ENSP00000298925:R309Q;ENSP00000349654:R281Q;ENSP00000317837:R224Q;ENSP00000437170:R281Q	ENSP00000298925:R309Q	R	+	2	0	NELL1	20905512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	2.687000	0.91594	0.557000	0.71058	CGA		0.393	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		62	265	0	0	0	1	0	62	265				
SLC52A1	55065	broad.mit.edu	37	17	4937215	4937215	+	Missense_Mutation	SNP	C	C	T	rs545814197		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4937215C>T	ENST00000424747.1	-	3	1281	c.569G>A	c.(568-570)cGt>cAt	p.R190H	SLC52A1_ENST00000512825.2_Missense_Mutation_p.R190H|SLC52A1_ENST00000254853.5_Missense_Mutation_p.R190H	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	190					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GGCAGGAAAACGCTCAGGGAA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.001	False		,,,				2504	0.0					ENST00000512825.2																			0											c.(568-570)cGt>cAt		solute carrier family 52 (riboflavin transporter), member 1							74.0	77.0	76.0					17																	4937215		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937215C>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.569G>A	17.37:g.4937215C>T	ENSP00000399979:p.Arg190His					SLC52A1_ENST00000424747.1_Missense_Mutation_p.R190H|SLC52A1_ENST00000254853.5_Missense_Mutation_p.R190H	p.R190H			Q9NWF4	RFT_HUMAN			3	1980	-			190					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.569G>A	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380302	0.42207	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.76186	-1.0;-0.86;-1.0	1.13	0.1	0.14510	.	0.175899	0.47455	N	0.000228	T	0.58424	0.2121	L	0.43554	1.36	0.35362	D	0.788283	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.48790	-0.9004	10	0.37606	T	0.19	.	3.9044	0.09176	0.0:0.5347:0.0:0.4653	.	190;190	F5H5Y1;Q9NWF4	.;RFT_HUMAN	H	190	ENSP00000254853:R190H;ENSP00000443026:R190H;ENSP00000399979:R190H	ENSP00000254853:R190H	R	-	2	0	GPR172B	4877939	0.955000	0.32602	0.980000	0.43619	0.935000	0.57460	0.071000	0.14594	0.063000	0.16370	-0.254000	0.11334	CGT		0.637	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		91	559	0	0	0	1	0	91	559				
CLCN4	1183	broad.mit.edu	37	X	10180547	10180547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10180547C>T	ENST00000380833.4	+	10	1821	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	477					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGTGGGCGCGATAGCGGGC	0.577																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1429-1431)gCg>gTg		chloride channel, voltage-sensitive 4							82.0	72.0	76.0					X																	10180547		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10180547C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1430C>T	X.37:g.10180547C>T	ENSP00000370213:p.Ala477Val					CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V	p.A477V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			10	1821	+			477					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1430C>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326636	0.95708	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.97430	-4.38;-4.38;-4.38	5.46	5.46	0.80206	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98425	1.0579	10	0.87932	D	0	-43.1916	18.4584	0.90729	0.0:1.0:0.0:0.0	.	477	P51793	CLCN4_HUMAN	V	477;446;383	ENSP00000370213:A477V;ENSP00000370209:A446V;ENSP00000405754:A383V	ENSP00000370209:A446V	A	+	2	0	CLCN4	10140547	1.000000	0.71417	0.327000	0.25402	0.947000	0.59692	7.663000	0.83820	2.301000	0.77427	0.513000	0.50165	GCG		0.577	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			86	372	0	0	0	1	0	86	372				
RECQL4	9401	broad.mit.edu	37	8	145740380	145740380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145740380G>A	ENST00000428558.2	-	9	1601	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	520	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|bubble DNA binding (GO:0000405)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGCGCCGGCTGTAGAGCA	0.652			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome																													ENST00000428558.2			yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	9401	"""N, F, S"""	RecQ protein-like 4			M		"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1558-1560)agC>agT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							20.0	25.0	23.0					8																	145740380		2142	4248	6390	SO:0001819	synonymous_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145740380G>A	AB006532	CCDS75804.1	8q24.3	2014-09-17	2014-03-07	2014-03-07		ENSG00000160957			9949	protein-coding gene	gene with protein product		603780				9878247, 15960976	Standard	NM_004260		Approved	RecQ4	uc003zdj.3	O94761		ENST00000428558.2:c.1560C>T	8.37:g.145740380G>A						RECQL4_ENST00000532237.1_5'UTR	p.S520S	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		9	1601	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		520			Helicase ATP-binding.		Q3Y424|Q96DW2|Q96F55	Silent	SNP	ENST00000428558.2	37	c.1560C>T																																																																																					0.652	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004260		23	76	0	0	0	1	0	23	76				
CCDC65	85478	broad.mit.edu	37	12	49312057	49312057	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312057G>T	ENST00000320516.4	+	5	797		c.e5-1		CCDC65_ENST00000266984.5_Splice_Site|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65											breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCACTTGCTAGAATTTAGAAG	0.413																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.e5-1		coiled-coil domain containing 65							92.0	94.0	93.0					12																	49312057		2203	4300	6503	SO:0001630	splice_region_variant	85478							g.chr12:49312057G>T		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.610-1G>T	12.37:g.49312057G>T						ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Splice_Site				Q8IXS2	CCD65_HUMAN			5	836	+								A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Splice_Site	SNP	ENST00000320516.4	37		CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698104	0.68386	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC65	47598324	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.003000	0.76310	2.677000	0.91161	0.655000	0.94253	.		0.413	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124	Intron	73	402	1	0	4.37588e-27	1	5.05892e-27	73	402				
ALDH8A1	64577	broad.mit.edu	37	6	135263570	135263570	+	Missense_Mutation	SNP	G	G	A	rs533886052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135263570G>A	ENST00000265605.2	-	3	487	c.419C>T	c.(418-420)aCg>aTg	p.T140M	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	140					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.T140M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GGCCCGCACCGTGTAGTGCAT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17593	0.0		0.0	False		,,,				2504	0.001					ENST00000265605.2																			1	Substitution - Missense(1)	p.T140M(1)	NS(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(418-420)aCg>aTg		aldehyde dehydrogenase 8 family, member A1							86.0	80.0	82.0					6																	135263570		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135263570G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.419C>T	6.37:g.135263570G>A	ENSP00000265605:p.Thr140Met					RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M	p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	3	487	-	Colorectal(23;0.221)		140					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.419C>T	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506159	0.85282	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.78126	-1.15;-1.15;1.48	5.32	5.32	0.75619	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.982;0.99	D	0.86419	0.1753	10	0.87932	D	0	.	19.0055	0.92849	0.0:0.0:1.0:0.0	.	140;140;140	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	140	ENSP00000265605:T140M;ENSP00000356819:T140M;ENSP00000356821:T140M	ENSP00000265605:T140M	T	-	2	0	ALDH8A1	135305263	1.000000	0.71417	0.939000	0.37840	0.459000	0.32528	9.807000	0.99171	2.472000	0.83506	0.655000	0.94253	ACG		0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			9	307	0	0	0	1	0	9	307				
GSN	2934	broad.mit.edu	37	9	124081117	124081117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124081117G>A	ENST00000373818.4	+	9	1372	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T|GSN_ENST00000373823.3_Missense_Mutation_p.A384T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000545652.1_Missense_Mutation_p.A392T	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	435	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCCATGGCCGCCCAGCACGG	0.637																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(1150-1152)Gcc>Acc		gelsolin							69.0	60.0	63.0					9																	124081117		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124081117G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1303G>A	9.37:g.124081117G>A	ENSP00000362924:p.Ala435Thr					GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000373818.4_Missense_Mutation_p.A435T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T|GSN_ENST00000545652.1_Missense_Mutation_p.A392T	p.A384T			P06396	GELS_HUMAN			17	2055	+			435					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.1150G>A	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501356	0.96371	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D	0.89917	0.992;0.998;0.963;1.0;0.997	P;P;B;D;P	0.81914	0.587;0.783;0.246;0.995;0.706	T	0.55573	-0.8120	10	0.54805	T	0.06	-29.0535	18.9865	0.92773	0.0:0.0:1.0:0.0	.	408;392;395;166;435	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	T	384;395;395;384;384;384;384;368;358;392;435;166	ENSP00000362929:A384T;ENSP00000411293:A395T;ENSP00000377882:A395T;ENSP00000409358:A384T;ENSP00000416586:A384T;ENSP00000340888:A384T;ENSP00000362914:A384T;ENSP00000445823:A392T;ENSP00000362924:A435T;ENSP00000362913:A166T	ENSP00000340888:A384T	A	+	1	0	GSN	123120938	1.000000	0.71417	0.985000	0.45067	0.830000	0.47004	9.301000	0.96167	2.724000	0.93272	0.561000	0.74099	GCC		0.637	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		98	363	0	0	0	1	0	98	363				
CAMSAP2	23271	broad.mit.edu	37	1	200817897	200817897	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817897C>A	ENST00000236925.4	+	12	2082	c.2033C>A	c.(2032-2034)aCt>aAt	p.T678N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T651N|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T667N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	678					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TGTCCAAGTACTGTAAGTACC	0.423																																						ENST00000358823.2																			0											c.(1999-2001)aCt>aAt		calmodulin regulated spectrin-associated protein family, member 2							68.0	69.0	69.0					1																	200817897		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817897C>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2033C>A	1.37:g.200817897C>A	ENSP00000236925:p.Thr678Asn					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.T678N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T651N	p.T667N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	2270	+			678					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.2000C>A		.	.	.	.	.	.	.	.	.	.	C	13.16	2.154833	0.38021	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.45276	0.9;0.9;0.9	5.48	5.48	0.80851	.	0.300843	0.36034	N	0.002838	T	0.34513	0.0900	N	0.24115	0.695	0.39212	D	0.963333	B;B;B	0.32573	0.376;0.259;0.216	B;B;B	0.36845	0.234;0.055;0.086	T	0.12967	-1.0527	10	0.16896	T	0.51	-22.8274	19.3486	0.94374	0.0:1.0:0.0:0.0	.	651;678;667	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	667;651;678	ENSP00000351684:T667N;ENSP00000416800:T651N;ENSP00000236925:T678N	ENSP00000236925:T678N	T	+	2	0	CAMSAP1L1	199084520	1.000000	0.71417	0.506000	0.27664	0.973000	0.67179	4.614000	0.61183	2.546000	0.85860	0.655000	0.94253	ACT		0.423	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		125	311	1	0	9.55279e-52	1	1.18642e-51	125	311				
TMEM127	55654	broad.mit.edu	37	2	96932184	96932184	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96932184C>A	ENST00000258439.3	-	0	0				CIAO1_ENST00000469320.1_3'UTR|CIAO1_ENST00000488633.1_Silent_p.A32A|TMEM127_ENST00000432959.1_5'Flank	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						CCCTGCTGGCCTCGTGCGGCG	0.721																																						ENST00000488633.1																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(94-96)gcC>gcA		cytosolic iron-sulfur protein assembly 1							11.0	15.0	14.0					2																	96932184		2186	4286	6472	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96932184C>A	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96932184C>A	Exception_encountered					CIAO1_ENST00000469320.1_3'UTR	p.A32A	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN			1	315	+			32					D3DXH0	Silent	SNP	ENST00000258439.3	37	c.96C>A	CCDS2018.1																																																																																				0.721	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		12	76	1	0	0.00010058	1	0.000102273	12	76				
DAAM1	23002	broad.mit.edu	37	14	59835462	59835462	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59835462G>T	ENST00000395125.1	+	25	3145	c.3122G>T	c.(3121-3123)cGc>cTc	p.R1041L	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1041	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCAGCTTTACGCTCAGGAGAA	0.413																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(3121-3123)cGc>cTc		dishevelled associated activator of morphogenesis 1							125.0	118.0	120.0					14																	59835462		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59835462G>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3122G>T	14.37:g.59835462G>T	ENSP00000378557:p.Arg1041Leu					DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L	p.R1041L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	25	3145	+			1041			DAD.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.3122G>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842526	0.91197	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82344	-1.6;-1.6;-1.6	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.050738	0.85682	D	0.000000	D	0.91382	0.7281	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91773	0.5429	10	0.87932	D	0	.	19.7154	0.96115	0.0:0.0:1.0:0.0	.	1031;1041	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	1031;1041;1041	ENSP00000354162:R1031L;ENSP00000247170:R1041L;ENSP00000378557:R1041L	ENSP00000247170:R1041L	R	+	2	0	DAAM1	58905215	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.807000	0.99171	2.664000	0.90586	0.655000	0.94253	CGC		0.413	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		51	185	1	0	1.81118e-26	1	2.08805e-26	51	185				
DNAH6	1768	broad.mit.edu	37	2	84811238	84811238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811238C>T	ENST00000237449.6	+	14	2353	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_ENST00000398278.2_Missense_Mutation_p.S782F|DNAH6_ENST00000389394.3_Missense_Mutation_p.S782F			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	782	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGAAGCCATCCATTGTTGCT	0.398																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(2344-2346)tCc>tTc		dynein, axonemal, heavy chain 6							200.0	189.0	193.0					2																	84811238		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811238C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2345C>T	2.37:g.84811238C>T	ENSP00000237449:p.Ser782Phe					DNAH6_ENST00000398278.2_Missense_Mutation_p.S782F|DNAH6_ENST00000237449.6_Missense_Mutation_p.S782F	p.S782F	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			15	2482	+			782			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.2345C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	8.840	0.942038	0.18281	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26373	1.74;1.87;1.74	5.73	5.73	0.89815	.	0.000000	0.43416	D	0.000567	T	0.43964	0.1271	L	0.55481	1.735	0.39048	D	0.960261	B;D	0.76494	0.022;0.999	B;D	0.69479	0.014;0.964	T	0.15636	-1.0430	10	0.10111	T	0.7	.	18.6655	0.91488	0.0:1.0:0.0:0.0	.	782;361	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	F	782	ENSP00000374045:S782F;ENSP00000381326:S782F;ENSP00000237449:S782F	ENSP00000237449:S782F	S	+	2	0	DNAH6	84664749	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.271000	0.58902	2.700000	0.92200	0.591000	0.81541	TCC		0.398	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		157	564	0	0	0	1	0	157	564				
PKP4	8502	broad.mit.edu	37	2	159535158	159535158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159535158C>T	ENST00000389759.3	+	21	3434	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W	PKP4_ENST00000389757.3_Missense_Mutation_p.R1065W|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1108					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACAAAATAGACGGCTACAGGT	0.403										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(3193-3195)Cgg>Tgg		plakophilin 4							45.0	45.0	45.0					2																	159535158		2203	4297	6500	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159535158C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3322C>T	2.37:g.159535158C>T	ENSP00000374409:p.Arg1108Trp	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.R1108W	p.R1065W	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			20	3318	+			1108					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3193C>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502554	0.64298	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75821	-0.97;-0.93	5.83	5.83	0.93111	.	0.130249	0.51477	D	0.000096	T	0.61489	0.2351	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46706	0.722;0.617;0.883	B;B;B	0.31101	0.08;0.124;0.117	T	0.69749	-0.5061	10	0.87932	D	0	-14.9775	20.1184	0.97949	0.0:1.0:0.0:0.0	.	1063;1065;1108	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	W	1065;1108	ENSP00000374407:R1065W;ENSP00000374409:R1108W	ENSP00000374407:R1065W	R	+	1	2	PKP4	159243404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.259000	0.65485	2.769000	0.95229	0.655000	0.94253	CGG		0.403	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			117	351	0	0	0	1	0	117	351				
TAF4B	6875	broad.mit.edu	37	18	23866093	23866093	+	Missense_Mutation	SNP	C	C	A	rs200809831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866093C>A	ENST00000269142.5	+	7	2218	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D	TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D|TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	407					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GGAGCAAAAGCTGGAGTTGTG	0.478																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1219-1221)gCt>gAt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							82.0	81.0	81.0					18																	23866093		1942	4169	6111	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23866093C>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1220C>A	18.37:g.23866093C>A	ENSP00000269142:p.Ala407Asp					TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D|TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D	p.A407D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	2218	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		407					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1220C>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.584104	0.28268	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26223	1.75;1.82;1.75	5.7	4.78	0.61160	.	0.899725	0.09484	N	0.795943	T	0.17662	0.0424	N	0.19112	0.55	0.19300	N	0.999973	B;B	0.28128	0.201;0.079	B;B	0.26614	0.034;0.071	T	0.08046	-1.0741	10	0.12430	T	0.62	-0.3601	13.5144	0.61533	0.0:0.8297:0.1703:0.0	.	407;407	Q92750;A4PBF7	TAF4B_HUMAN;.	D	407	ENSP00000389365:A407D;ENSP00000269142:A407D;ENSP00000383314:A407D	ENSP00000269142:A407D	A	+	2	0	TAF4B	22120091	0.540000	0.26410	0.969000	0.41365	0.991000	0.79684	1.318000	0.33643	2.701000	0.92244	0.552000	0.68991	GCT		0.478	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		56	288	1	0	3.40343e-31	1	4.00304e-31	56	288				
SLC37A2	219855	broad.mit.edu	37	11	124951718	124951718	+	Silent	SNP	C	C	T	rs181024684	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124951718C>T	ENST00000403796.2	+	9	1102	c.801C>T	c.(799-801)agC>agT	p.S267S	SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000298280.5_Silent_p.S267S|SLC37A2_ENST00000407458.1_Silent_p.S267S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	267					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCAGGGAGAGCGGCCTTGAGA	0.597													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18260	0.0		0.001	False		,,,				2504	0.0				Melanoma(11;373 620 21213 26083 47768)	ENST00000403796.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27						c.(799-801)agC>agT		solute carrier family 37 (glucose-6-phosphate transporter), member 2							68.0	65.0	66.0					11																	124951718		2201	4299	6500	SO:0001819	synonymous_variant	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124951718C>T	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.801C>T	11.37:g.124951718C>T						SLC37A2_ENST00000298280.5_Silent_p.S267S|SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000407458.1_Silent_p.S267S	p.S267S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	9	1102	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	267					A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	c.801C>T	CCDS44757.1																																																																																				0.597	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		42	234	0	0	0	1	0	42	234				
MEOX1	4222	broad.mit.edu	37	17	41720868	41720868	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41720868G>T	ENST00000318579.4	-	2	1049	c.630C>A	c.(628-630)ctC>ctA	p.L210L	MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Silent_p.L95L	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	210					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGCGCTCAGAGAGGTCCAGGT	0.607																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(628-630)ctC>ctA		mesenchyme homeobox 1							53.0	47.0	49.0					17																	41720868		2203	4299	6502	SO:0001819	synonymous_variant	4222					nucleus	sequence-specific DNA binding	g.chr17:41720868G>T		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.630C>A	17.37:g.41720868G>T						MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Silent_p.L95L|MEOX1_ENST00000549132.1_Intron	p.L210L	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	2	1049	-		Breast(137;0.00908)	210					A8K524|A8MWF9|Q15069	Silent	SNP	ENST00000318579.4	37	c.630C>A	CCDS11466.1																																																																																				0.607	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			5	40	1	0	0.000602214	1	0.000609647	5	40				
MEGF8	1954	broad.mit.edu	37	19	42867301	42867301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42867301C>T	ENST00000251268.6	+	35	6160	c.6160C>T	c.(6160-6162)Cca>Tca	p.P2054S	MEGF8_ENST00000334370.4_Missense_Mutation_p.P1987S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2054					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATCATCACCCCCACTGCCCTG	0.622																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5959-5961)Cca>Tca		multiple EGF-like-domains 8							131.0	109.0	117.0					19																	42867301		2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42867301C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6160C>T	19.37:g.42867301C>T	ENSP00000251268:p.Pro2054Ser					MEGF8_ENST00000251268.6_Missense_Mutation_p.P2054S	p.P1987S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			34	6594	+		Prostate(69;0.00682)	2054					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5959C>T		.	.	.	.	.	.	.	.	.	.	C	16.90	3.250896	0.59212	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.22589	0.0545	N	0.16790	0.44	0.80722	D	1	B;D	0.57571	0.006;0.98	B;P	0.50617	0.013;0.646	T	0.02307	-1.1179	10	0.49607	T	0.09	-9.6731	17.701	0.88294	0.0:1.0:0.0:0.0	.	2054;1987	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1987;2054	ENSP00000334219:P1987S;ENSP00000251268:P2054S	ENSP00000251268:P2054S	P	+	1	0	MEGF8	47559141	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.334000	0.65923	2.556000	0.86216	0.508000	0.49915	CCA		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		28	84	0	0	0	1	0	28	84				
SHANK2	22941	broad.mit.edu	37	11	70319396	70319396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319396G>T	ENST00000423696.2	-	16	4027	c.3991C>A	c.(3991-3993)Cct>Act	p.P1331T	SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115T|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGACCACAGGGCTTGGGGCA	0.627																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5131-5133)Cct>Act		SH3 and multiple ankyrin repeat domains 2							56.0	57.0	56.0					11																	70319396		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319396G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3991C>A	11.37:g.70319396G>T	ENSP00000394536:p.Pro1331Thr					SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114T|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1331T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115T	p.P1711T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5130	-			1331					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5131C>A		.	.	.	.	.	.	.	.	.	.	G	20.5	3.994457	0.74703	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.58940	1.81;1.83;2.58;0.3;1.91;1.98	5.91	5.91	0.95273	.	0.047883	0.85682	D	0.000000	T	0.75250	0.3824	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.992	D;D;P	0.91635	0.962;0.999;0.894	T	0.75491	-0.3299	10	0.87932	D	0	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1331;1710;1115	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	1115;1114;989;1711;1331;1349;1334	ENSP00000399423:P1115T;ENSP00000386491:P1114T;ENSP00000402944:P989T;ENSP00000345193:P1711T;ENSP00000394536:P1331T;ENSP00000294018:P1334T	ENSP00000294018:P1334T	P	-	1	0	SHANK2	69997044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.861000	0.75478	2.799000	0.96334	0.650000	0.86243	CCT		0.627	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		71	311	1	0	4.83677e-39	1	5.84255e-39	71	311				
BCS1L	617	broad.mit.edu	37	2	219527252	219527252	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219527252C>T	ENST00000431802.1	+	6	1438	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000465706.1_Intron|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Silent_p.L247L			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	247					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGGGGAACTGGAGCACAG	0.627																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(739-741)Ctg>Ttg		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							56.0	52.0	53.0					2																	219527252		2203	4300	6503	SO:0001819	synonymous_variant	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527252C>T	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.739C>T	2.37:g.219527252C>T						BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000465706.1_Intron|BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|BCS1L_ENST00000392111.2_Silent_p.L247L	p.L247L			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1438	+		Renal(207;0.0474)	247					B3KTW9|Q7Z2V7	Silent	SNP	ENST00000431802.1	37	c.739C>T	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833932	0.16820	.	.	ENSG00000074582	ENST00000426649	.	.	.	5.1	3.32	0.38043	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51949	-0.8640	4	.	.	.	-17.5927	7.9752	0.30151	0.0:0.691:0.0:0.309	.	.	.	.	I	28	.	.	T	+	2	0	BCS1L	219235496	0.998000	0.40836	0.995000	0.50966	0.973000	0.67179	0.985000	0.29578	0.753000	0.32945	-0.266000	0.10368	ACT		0.627	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		55	384	0	0	0	1	0	55	384				
DYNC1H1	1778	broad.mit.edu	37	14	102505518	102505518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102505518C>A	ENST00000360184.4	+	60	11551	c.11387C>A	c.(11386-11388)aCc>aAc	p.T3796N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3796					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGGTGGAGACCGTGTCCCAG	0.577																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(11386-11388)aCc>aAc		dynein, cytoplasmic 1, heavy chain 1							87.0	80.0	83.0					14																	102505518		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102505518C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11387C>A	14.37:g.102505518C>A	ENSP00000348965:p.Thr3796Asn					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.T3796N	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			60	11551	+			3796					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11387C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945605	0.34377	.	.	ENSG00000197102	ENST00000360184	T	0.54479	0.57	5.97	5.08	0.68730	.	0.173614	0.56097	D	0.000029	T	0.44008	0.1273	L	0.37507	1.11	0.58432	D	0.999992	B	0.02656	0.0	B	0.06405	0.002	T	0.26643	-1.0097	10	0.19590	T	0.45	.	16.7954	0.85600	0.0:0.8609:0.1391:0.0	.	3796	Q14204	DYHC1_HUMAN	N	3796	ENSP00000348965:T3796N	ENSP00000348965:T3796N	T	+	2	0	DYNC1H1	101575271	1.000000	0.71417	0.924000	0.36721	0.976000	0.68499	4.843000	0.62838	1.504000	0.48704	0.655000	0.94253	ACC		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		72	377	1	0	1.43987e-31	1	1.69592e-31	72	377				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092332	29092332	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29092332C>A	ENST00000569815.1	-	0	183					NR_047567.1				golgin A6 family-like 7, pseudogene																		TGATGATAGTCTGTAAACTGT	0.433																																						ENST00000569815.1																			0																																																			0							g.chr15:29092332C>A	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092332C>A								NR_047567.1						0	183	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.433	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		13	32	1	0	2.27111e-07	1	2.35674e-07	13	32				
SLC20A1	6574	broad.mit.edu	37	2	113416903	113416903	+	Missense_Mutation	SNP	C	C	A	rs11552050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416903C>A	ENST00000272542.3	+	8	1710	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	391					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTACAAAGAGCTACTCCATAA	0.478																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1171-1173)Cta>Ata		solute carrier family 20 (phosphate transporter), member 1							137.0	131.0	133.0					2																	113416903		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416903C>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1171C>A	2.37:g.113416903C>A	ENSP00000272542:p.Leu391Ile					SLC20A1_ENST00000480984.1_3'UTR	p.L391I	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			8	1710	+			391					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1171C>A	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.864962|3.864962	0.71949|0.71949	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000433924|ENST00000272542;ENST00000409095	.|D	.|0.92249	.|-3.0	5.33|5.33	4.26|4.26	0.50523|0.50523	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94092|0.94092	0.8106|0.8106	L|L	0.56124|0.56124	1.755|1.755	0.51767|0.51767	D|D	0.999936|0.999936	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	D|D	0.93439|0.93439	0.6792|0.6792	5|10	.|0.51188	.|T	.|0.08	-44.6552|-44.6552	12.1642|12.1642	0.54120|0.54120	0.0:0.9016:0.0:0.0984|0.0:0.9016:0.0:0.0984	.|.	.|391;391	.|A7LNJ1;Q8WUM9	.|.;S20A1_HUMAN	D|I	174|391;203	.|ENSP00000272542:L391I	.|ENSP00000272542:L391I	A|L	+|+	2|1	0|2	SLC20A1|SLC20A1	113133374|113133374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.720000|2.720000	0.47252|0.47252	2.517000|2.517000	0.84864|0.84864	0.655000|0.655000	0.94253|0.94253	GCT|CTA		0.478	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		101	475	1	0	9.27813e-46	1	1.13844e-45	101	475				
RABEP1	9135	broad.mit.edu	37	17	5268464	5268464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5268464G>A	ENST00000546142.2	+	11	1903	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	RABEP1_ENST00000262477.6_Silent_p.E572E|RABEP1_ENST00000341923.6_Silent_p.E572E|RABEP1_ENST00000408982.2_Silent_p.E572E|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Silent_p.E529E|RP11-420A6.2_ENST00000572792.1_RNA			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	572					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACCAGTTAGAGAAGACAATGA	0.383																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1714-1716)gaG>gaA		rabaptin, RAB GTPase binding effector protein 1							119.0	111.0	114.0					17																	5268464		1870	4110	5980	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5268464G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1716G>A	17.37:g.5268464G>A						RABEP1_ENST00000341923.6_Silent_p.E572E|RABEP1_ENST00000546142.2_Silent_p.E572E|RABEP1_ENST00000408982.2_Silent_p.E572E|RABEP1_ENST00000537505.1_Silent_p.E529E|NUP88_ENST00000573169.1_Intron|RP11-420A6.2_ENST00000572792.1_RNA	p.E572E	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			11	1940	+			572					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.1716G>A	CCDS45592.1																																																																																				0.383	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		83	355	0	0	0	1	0	83	355				
EXOC3	11336	broad.mit.edu	37	5	446344	446344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:446344C>T	ENST00000512944.1	+	2	213	c.24C>T	c.(22-24)gcC>gcT	p.A8A	EXOC3_ENST00000315013.5_Silent_p.A8A|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	19					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACCGGGAGGCCGTTGCGACAG	0.582																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(22-24)gcC>gcT		exocyst complex component 3							82.0	85.0	84.0					5																	446344		2011	4172	6183	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:446344C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.24C>T	5.37:g.446344C>T						EXOC3_ENST00000510441.1_3'UTR|EXOC3_ENST00000315013.5_Silent_p.A8A	p.A8A	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		2	213	+		Ovarian(839;0.0563)	19					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.24C>T	CCDS54830.1																																																																																				0.582	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		44	321	0	0	0	1	0	44	321				
TMPRSS5	80975	broad.mit.edu	37	11	113560616	113560616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113560616C>T	ENST00000299882.5	-	12	1378	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000545579.1_Silent_p.V401V|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000538955.1_Silent_p.V366V	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	410	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CATCTGGGCACACTAGGGGGC	0.607																																						ENST00000299882.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(1228-1230)gtG>gtA		transmembrane protease, serine 5							15.0	16.0	16.0					11																	113560616		1899	4105	6004	SO:0001819	synonymous_variant	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113560616C>T	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1230G>A	11.37:g.113560616C>T						TMPRSS5_ENST00000545579.1_Silent_p.V401V|TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000538955.1_Silent_p.V366V|TMPRSS5_ENST00000536856.1_Intron	p.V410V	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	12	1378	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	410			Peptidase S1.			Silent	SNP	ENST00000299882.5	37	c.1230G>A	CCDS44735.1																																																																																				0.607	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		5	25	0	0	0	1	0	5	25				
CCR10	2826	broad.mit.edu	37	17	40831869	40831869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40831869C>A	ENST00000332438.4	-	2	810	c.791G>T	c.(790-792)aGc>aTc	p.S264I	CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank|CCR10_ENST00000591765.1_Missense_Mutation_p.S42I|PLEKHH3_ENST00000591022.1_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	264					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGGCGAGGCTGTAGGGCAG	0.721																																						ENST00000591765.1																			0				lung(1)|ovary(1)|skin(1)	3						c.(124-126)aGc>aTc		chemokine (C-C motif) receptor 10							9.0	10.0	10.0					17																	40831869		2149	4219	6368	SO:0001583	missense	2826					integral to plasma membrane		g.chr17:40831869C>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.791G>T	17.37:g.40831869C>A	ENSP00000332504:p.Ser264Ile					CCR10_ENST00000332438.4_Missense_Mutation_p.S264I	p.S42I			P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	1510	-		Breast(137;0.000153)	264					Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	37	c.125G>T	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865068	0.71949	.	.	ENSG00000184451	ENST00000332438	T	0.37235	1.21	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000203	T	0.41305	0.1153	L	0.46157	1.445	0.31084	N	0.711548	P	0.47191	0.891	P	0.51266	0.664	T	0.50466	-0.8825	10	0.87932	D	0	.	10.7503	0.46205	0.0:0.6747:0.3253:0.0	.	264	P46092	CCR10_HUMAN	I	264	ENSP00000332504:S264I	ENSP00000332504:S264I	S	-	2	0	CCR10	38085395	0.637000	0.27216	1.000000	0.80357	0.986000	0.74619	0.690000	0.25451	2.192000	0.70111	0.462000	0.41574	AGC		0.721	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		19	92	1	0	2.39187e-15	1	2.61288e-15	19	92				
PRSS50	29122	broad.mit.edu	37	3	46783961	46783961	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46783961C>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.R189H			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TTTGGTGATGCGGGTGTACAC	0.552																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(565-567)cGc>cAc		protease, serine, 45							208.0	259.0	242.0					3																	46783961		2088	4222	6310	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46783961C>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+6153G>A	3.37:g.46783961C>T						PRSS50_ENST00000460241.1_Intron	p.R189H	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			4	565	-			221			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.566G>A	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567868	0.45798	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.94687	-3.49	5.65	4.76	0.60689	.	0.000000	0.56097	D	0.000025	D	0.96396	0.8824	.	.	.	0.09310	N	0.999991	D	0.89917	1.0	D	0.69307	0.963	D	0.91431	0.5166	9	0.56958	D	0.05	.	11.7851	0.52037	0.175:0.825:0.0:0.0	.	189	Q7RTY3-2	.	H	221;189	ENSP00000401932:R189H	ENSP00000330940:R221H	R	-	2	0	PRSS45	46758965	0.763000	0.28462	0.032000	0.17829	0.266000	0.26442	1.946000	0.40283	1.602000	0.50124	0.655000	0.94253	CGC		0.552	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			167	652	0	0	0	1	0	167	652				
SYTL3	94120	broad.mit.edu	37	6	159178308	159178308	+	Silent	SNP	G	G	A	rs372238021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178308G>A	ENST00000297239.9	+	13	1397	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SYTL3_ENST00000360448.3_Silent_p.T333T|SYTL3_ENST00000367081.3_Silent_p.T127T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	401	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ATCTGGGCACGCTGGCCCGGA	0.617																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1201-1203)acG>acA		synaptotagmin-like 3		T	,,,	0,4406		0,0,2203	53.0	47.0	49.0		999,1203,1203,999	-7.0	0.0	6		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	333/543,401/611,401/611,333/543	159178308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178308G>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1203G>A	6.37:g.159178308G>A						SYTL3_ENST00000367081.3_Silent_p.T127T|SYTL3_ENST00000360448.3_Silent_p.T333T	p.T401T			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	13	1397	+		Breast(66;0.000776)|Ovarian(120;0.0303)	401			C2 1.		Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.1203G>A	CCDS56458.1																																																																																				0.617	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			42	178	0	0	0	1	0	42	178				
ARHGAP29	9411	broad.mit.edu	37	1	94643433	94643433	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643433T>A	ENST00000260526.6	-	21	2953	c.2771A>T	c.(2770-2772)aAg>aTg	p.K924M	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	924					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATAGTGACTTCATGGAACG	0.323																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2770-2772)aAg>aTg		Rho GTPase activating protein 29							67.0	70.0	69.0					1																	94643433		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94643433T>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2771A>T	1.37:g.94643433T>A	ENSP00000260526:p.Lys924Met					ARHGAP29_ENST00000482481.1_5'UTR	p.K924M	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	21	2953	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	924					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.2771A>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283999	0.59867	.	.	ENSG00000137962	ENST00000260526	T	0.26660	1.72	5.55	5.55	0.83447	.	0.000000	0.40469	N	0.001092	T	0.37376	0.1001	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.17471	-1.0368	10	0.62326	D	0.03	-18.0172	16.008	0.80377	0.0:0.0:0.0:1.0	.	924;924	F8VWZ8;Q52LW3	.;RHG29_HUMAN	M	924	ENSP00000260526:K924M	ENSP00000260526:K924M	K	-	2	0	ARHGAP29	94416021	1.000000	0.71417	0.368000	0.25939	0.537000	0.34900	6.199000	0.72112	2.250000	0.74265	0.533000	0.62120	AAG		0.323	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		58	216	0	0	0	1	0	58	216				
FCRL5	83416	broad.mit.edu	37	1	157490923	157490923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157490923G>A	ENST00000361835.3	-	11	2556	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	800	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTCCTCCAGAGGGGGACGA	0.577																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2398-2400)tCt>tTt		Fc receptor-like 5							76.0	82.0	80.0					1																	157490923		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490923G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2399C>T	1.37:g.157490923G>A	ENSP00000354691:p.Ser800Phe					FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F	p.S800F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			11	2556	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	800			Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2399C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747371	0.30955	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.15017	2.46;2.46	5.34	-0.515	0.11954	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	20.103400	0.00639	U	0.000514	T	0.09949	0.0244	L	0.53249	1.67	0.54753	D	0.999981	P;P	0.51351	0.858;0.944	B;P	0.51550	0.326;0.673	T	0.56329	-0.7997	10	0.17369	T	0.5	.	2.7429	0.05258	0.3224:0.0:0.3374:0.3402	.	800;800	A6NJE8;Q96RD9	.;FCRL5_HUMAN	F	800	ENSP00000354691:S800F;ENSP00000349434:S800F	ENSP00000349434:S800F	S	-	2	0	FCRL5	155757547	0.001000	0.12720	0.861000	0.33841	0.509000	0.34042	0.176000	0.16782	0.030000	0.15379	0.650000	0.86243	TCT		0.577	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		98	512	0	0	0	1	0	98	512				
TNNI3	7137	broad.mit.edu	37	19	55663256	55663256	+	Missense_Mutation	SNP	C	C	A	rs397516358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663256C>A	ENST00000344887.5	-	8	721	c.579G>T	c.(577-579)aaG>aaT	p.K193N	TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000592920.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	193					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATCGATGTTCTTGCGCCAGT	0.557																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(577-579)aaG>aaT		troponin I type 3 (cardiac)							125.0	127.0	126.0					19																	55663256		1974	4160	6134	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55663256C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.579G>T	19.37:g.55663256C>A	ENSP00000341838:p.Lys193Asn					TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N	p.K193N	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	8	721	-			193						Missense_Mutation	SNP	ENST00000344887.5	37	c.579G>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799476	0.70567	.	.	ENSG00000129991	ENST00000344887	D	0.98028	-4.67	4.46	2.3	0.28687	.	0.000000	0.64402	D	0.000005	D	0.98343	0.9450	M	0.82823	2.61	0.52099	D	0.999948	D	0.71674	0.998	D	0.78314	0.991	D	0.98117	1.0423	10	0.87932	D	0	-28.5851	10.1277	0.42661	0.0:0.8274:0.0:0.1726	.	193	P19429	TNNI3_HUMAN	N	193	ENSP00000341838:K193N	ENSP00000341838:K193N	K	-	3	2	TNNI3	60355068	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.068000	0.50018	0.447000	0.26695	-0.424000	0.05967	AAG		0.557	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			55	198	1	0	4.33383e-22	1	4.89722e-22	55	198				
FBXL7	23194	broad.mit.edu	37	5	15936764	15936764	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936764C>T	ENST00000504595.1	+	4	1426	c.945C>T	c.(943-945)ggC>ggT	p.G315G	FBXL7_ENST00000329673.7_Silent_p.G303G|FBXL7_ENST00000510662.1_Silent_p.G268G|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	315					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCGACGAAGGCCTGCGCTACC	0.667																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(943-945)ggC>ggT		F-box and leucine-rich repeat protein 7							35.0	39.0	38.0					5																	15936764		2187	4284	6471	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936764C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.945C>T	5.37:g.15936764C>T						FBXL7_ENST00000329673.7_Silent_p.G303G|FBXL7_ENST00000510662.1_Silent_p.G268G	p.G315G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1426	+			315					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.945C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		26	139	0	0	0	1	0	26	139				
GTF3C2	2976	broad.mit.edu	37	2	27565074	27565074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27565074G>A	ENST00000359541.2	-	4	1025	c.596C>T	c.(595-597)gCt>gTt	p.A199V	AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	199					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTCTTCAGCCAGTTCCTG	0.562																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(595-597)gCt>gTt		general transcription factor IIIC, polypeptide 2, beta 110kDa							40.0	41.0	41.0					2																	27565074		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27565074G>A	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.596C>T	2.37:g.27565074G>A	ENSP00000352536:p.Ala199Val					GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V|AC109828.1_ENST00000590383.1_RNA	p.A199V			Q8WUA4	TF3C2_HUMAN			4	1025	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		199					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.596C>T	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908321	0.92107	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	D;D	0.82984	-1.67;-1.67	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	N	0.24115	0.695	0.51482	D	0.999922	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.80764	0.994;0.978;0.994	D	0.86109	0.1561	10	0.48119	T	0.1	-11.8481	16.7685	0.85529	0.0:0.0:1.0:0.0	.	199;199;199	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	V	199	ENSP00000352536:A199V;ENSP00000264720:A199V	ENSP00000264720:A199V	A	-	2	0	GTF3C2	27418578	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.583000	0.67484	2.570000	0.86706	0.467000	0.42956	GCT		0.562	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			75	179	0	0	0	1	0	75	179				
TM4SF18	116441	broad.mit.edu	37	3	149042779	149042779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149042779C>T	ENST00000296059.2	-	4	563	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	100						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGCAATTCCGAGGGAAGAA	0.438																																						ENST00000296059.2																			0				lung(1)|ovary(1)|prostate(1)	3						c.(298-300)Gga>Aga		transmembrane 4 L six family member 18							73.0	72.0	72.0					3																	149042779		2203	4300	6503	SO:0001583	missense	116441					integral to membrane		g.chr3:149042779C>T	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.298G>A	3.37:g.149042779C>T	ENSP00000296059:p.Gly100Arg					TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R|RP11-206M11.7_ENST00000489011.1_RNA	p.G100R	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	563	-			100					B2R8K0|D3DNH5	Missense_Mutation	SNP	ENST00000296059.2	37	c.298G>A	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599698	0.87055	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.37235	1.21;1.21;1.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.85777	2.775	0.48571	D	0.999673	D	0.89917	1.0	D	0.97110	1.0	T	0.70403	-0.4881	10	0.87932	D	0	-13.8166	17.8373	0.88701	0.0:1.0:0.0:0.0	.	100	Q96CE8	T4S18_HUMAN	R	100	ENSP00000296059:G100R;ENSP00000419278:G100R;ENSP00000418372:G100R	ENSP00000296059:G100R	G	-	1	0	TM4SF18	150525469	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	4.520000	0.60524	2.745000	0.94114	0.655000	0.94253	GGA		0.438	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		38	165	0	0	0	1	0	38	165				
XKR9	389668	broad.mit.edu	37	8	71646532	71646532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646532G>T	ENST00000408926.3	+	5	1529	c.995G>T	c.(994-996)gGa>gTa	p.G332V	XKR9_ENST00000520030.1_Missense_Mutation_p.G332V|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	332						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTTCTTCTTGGAATTCTTTTT	0.333																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(994-996)gGa>gTa		XK, Kell blood group complex subunit-related family, member 9							56.0	58.0	57.0					8																	71646532		2203	4297	6500	SO:0001583	missense	389668					integral to membrane		g.chr8:71646532G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.995G>T	8.37:g.71646532G>T	ENSP00000386141:p.Gly332Val					XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.G332V	p.G332V	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1529	+	Breast(64;0.0716)		332					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.995G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034078	0.75504	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.78816	-1.21;-1.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91059	0.4884	10	0.87932	D	0	-12.7087	18.4549	0.90717	0.0:0.0:1.0:0.0	.	332	Q5GH70	XKR9_HUMAN	V	332	ENSP00000386141:G332V;ENSP00000431088:G332V	ENSP00000386141:G332V	G	+	2	0	XKR9	71809086	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.920000	0.75799	2.592000	0.87571	0.557000	0.71058	GGA		0.333	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		14	87	1	0	0.000151284	1	0.000153739	14	87				
MYH6	4624	broad.mit.edu	37	14	23873579	23873579	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23873579T>G	ENST00000356287.3	-	7	690	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	MYH6_ENST00000405093.3_Missense_Mutation_p.I221L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	221	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGGATGATCTGGTCCTCC	0.612																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(661-663)Atc>Ctc		myosin, heavy chain 6, cardiac muscle, alpha							127.0	107.0	114.0					14																	23873579		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23873579T>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.661A>C	14.37:g.23873579T>G	ENSP00000348634:p.Ile221Leu					MYH6_ENST00000356287.3_Missense_Mutation_p.I221L	p.I221L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	8	731	-	all_cancers(95;2.54e-05)		221			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.661A>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.194954	0.78902	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88046	-2.33;-2.33	3.21	3.21	0.36854	Myosin head, motor domain (2);	.	.	.	.	D	0.92570	0.7640	M	0.66297	2.02	0.52501	D	0.99995	P;P	0.35107	0.484;0.484	D;D	0.65010	0.931;0.931	D	0.92625	0.6111	9	0.72032	D	0.01	.	11.6217	0.51121	0.0:0.0:0.0:1.0	.	221;221	D9YZU2;P13533	.;MYH6_HUMAN	L	221	ENSP00000386041:I221L;ENSP00000348634:I221L	ENSP00000348634:I221L	I	-	1	0	MYH6	22943419	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.573000	0.82421	1.467000	0.48044	0.247000	0.18012	ATC		0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			106	529	0	0	0	1	0	106	529				
PLEKHG2	64857	broad.mit.edu	37	19	39907596	39907596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907596C>T	ENST00000409794.3	+	7	1550	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	PLEKHG2_ENST00000458508.2_Silent_p.L175L|PLEKHG2_ENST00000409797.2_Silent_p.L234L|PLEKHG2_ENST00000378550.1_Silent_p.L234L|PLEKHG2_ENST00000425673.1_Silent_p.L234L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	234	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCTTCCTGCTGAAACCTGT	0.672																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(700-702)Ctg>Ttg		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							32.0	34.0	33.0					19																	39907596		2200	4297	6497	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39907596C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.700C>T	19.37:g.39907596C>T						PLEKHG2_ENST00000409797.2_Silent_p.L234L|PLEKHG2_ENST00000409794.3_Silent_p.L234L|PLEKHG2_ENST00000458508.2_Silent_p.L175L|PLEKHG2_ENST00000378550.1_Silent_p.L234L	p.L234L			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		7	1025	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		234			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.700C>T	CCDS33022.2																																																																																				0.672	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		18	428	0	0	0	1	0	18	428				
C10orf12	26148	broad.mit.edu	37	10	98741161	98741161	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741161C>A	ENST00000286067.2	+	1	121	c.14C>A	c.(13-15)gCt>gAt	p.A5D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	5										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAGAGTTCAGCTTTAGTAGAA	0.393																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(13-15)gCt>gAt		chromosome 10 open reading frame 12							69.0	67.0	68.0					10																	98741161		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741161C>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.14C>A	10.37:g.98741161C>A	ENSP00000286067:p.Ala5Asp						p.A5D	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	121	+		Colorectal(252;0.172)	5					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.14C>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008834	0.35415	.	.	ENSG00000155640	ENST00000286067	T	0.16196	2.36	5.85	5.85	0.93711	.	0.000000	0.44097	D	0.000497	T	0.29850	0.0746	L	0.34521	1.04	0.35268	D	0.780209	D	0.76494	0.999	D	0.68192	0.956	T	0.22521	-1.0214	10	0.72032	D	0.01	-5.4603	13.3765	0.60741	0.0:0.9282:0.0:0.0718	.	5	Q8N655	CJ012_HUMAN	D	5	ENSP00000286067:A5D	ENSP00000286067:A5D	A	+	2	0	C10orf12	98731151	0.993000	0.37304	0.994000	0.49952	0.065000	0.16274	2.805000	0.47939	2.775000	0.95449	0.591000	0.81541	GCT		0.393	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		35	255	1	0	3.62531e-18	1	4.01709e-18	35	255				
HOXB3	3213	broad.mit.edu	37	17	46628304	46628304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628304G>A	ENST00000470495.1	-	2	2135	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157W|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W			P14651	HXB3_HUMAN	homeobox B3	230					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TTGATCTGCCGCTCGCTGAGG	0.612																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(688-690)Cgg>Tgg		homeobox B3							100.0	103.0	102.0					17																	46628304		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628304G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.688C>T	17.37:g.46628304G>A	ENSP00000417207:p.Arg230Trp					HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157W|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W	p.R230W			P14651	HXB3_HUMAN			2	2135	-			230					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.688C>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241850	0.58995	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	3.43	3.43	0.39272	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98479	1.0604	10	0.87932	D	0	.	10.6315	0.45538	0.0:0.0:0.6691:0.3309	.	230	P14651	HXB3_HUMAN	W	230;157;230;230;96;98;98;157;230	ENSP00000417207:R230W;ENSP00000419676:R157W;ENSP00000308252:R230W;ENSP00000420595:R230W;ENSP00000449977:R96W;ENSP00000418035:R98W;ENSP00000438747:R98W;ENSP00000418729:R157W;ENSP00000418892:R230W	ENSP00000308252:R230W	R	-	1	2	HOXB3	43983303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.259000	0.32956	1.954000	0.56735	0.644000	0.83932	CGG		0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			70	786	0	0	0	1	0	70	786				
PIN1	5300	broad.mit.edu	37	19	9949194	9949194	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9949194C>T	ENST00000247970.4	+	2	163	c.141C>T	c.(139-141)aaC>aaT	p.N47N	PIN1_ENST00000588695.1_Silent_p.N47N|PIN1_ENST00000587625.1_Silent_p.N47N|PIN1_ENST00000380889.6_3'UTR	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	47					cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						GTGGCAAAAACGGGCAGGGGG	0.667																																						ENST00000247970.4																			0				skin(3)	3						c.(139-141)aaC>aaT		peptidylprolyl cis/trans isomerase, NIMA-interacting 1							18.0	20.0	19.0					19																	9949194		2201	4296	6497	SO:0001819	synonymous_variant	5300				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding	g.chr19:9949194C>T		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"""			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.141C>T	19.37:g.9949194C>T						PIN1_ENST00000588695.1_Silent_p.N47N|PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Silent_p.N47N	p.N47N	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN			2	163	+			47					A8K4V9|Q53X75	Silent	SNP	ENST00000247970.4	37	c.141C>T	CCDS12220.1																																																																																				0.667	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1			15	61	0	0	0	1	0	15	61				
SLC52A2	79581	broad.mit.edu	37	8	145584484	145584484	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584484C>A	ENST00000532887.1	+	5	1730	c.1147C>A	c.(1147-1149)Ctt>Att	p.L383I	SLC52A2_ENST00000329994.2_Missense_Mutation_p.L383I|SLC52A2_ENST00000526752.1_Missense_Mutation_p.S51Y|SLC52A2_ENST00000530047.1_Missense_Mutation_p.L383I|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000527078.1_Missense_Mutation_p.L383I|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L295I			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	383					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GGTGCTGTGTCTTGGCGTGTT	0.682																																						ENST00000532887.1																			0											c.(1147-1149)Ctt>Att		solute carrier family 52 (riboflavin transporter), member 2							111.0	85.0	94.0					8																	145584484		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584484C>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1147C>A	8.37:g.145584484C>A	ENSP00000436768:p.Leu383Ile					SLC52A2_ENST00000402965.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000329994.2_Missense_Mutation_p.L383I|SLC52A2_ENST00000527078.1_Missense_Mutation_p.L383I|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L295I|SLC52A2_ENST00000526752.1_Missense_Mutation_p.S51Y|SLC52A2_ENST00000530047.1_Missense_Mutation_p.L383I	p.L383I			Q9HAB3	RFT3_HUMAN			5	1730	+			383					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.1147C>A	CCDS6423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.533|7.533	0.659103|0.659103	0.14645|0.14645	.|.	.|.	ENSG00000185803|ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505|ENST00000526752	T;T;T;T;T;T|D	0.74315|0.90004	-0.83;-0.83;-0.83;-0.83;-0.83;-0.59|-2.6	5.25|5.25	0.202|0.202	0.15190|0.15190	.|.	0.667263|.	0.14238|.	N|.	0.332251|.	T|T	0.77785|0.77785	0.4182|0.4182	N|N	0.16567|0.16567	0.415|0.415	0.21290|0.21290	N|N	0.999731|0.999731	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.67868|0.67868	-0.5559|-0.5559	10|7	0.18710|0.87932	T|D	0.47|0	.|.	1.7425|1.7425	0.02955|0.02955	0.1258:0.4413:0.1607:0.2723|0.1258:0.4413:0.1607:0.2723	.|.	383|.	Q9HAB3|.	RFT3_HUMAN|.	I|Y	383;383;383;383;383;295|51	ENSP00000435820:L383I;ENSP00000434728:L383I;ENSP00000385961:L383I;ENSP00000436768:L383I;ENSP00000333638:L383I;ENSP00000440400:L295I|ENSP00000433796:S51Y	ENSP00000333638:L383I|ENSP00000433796:S51Y	L|S	+|+	1|2	0|0	GPR172A|GPR172A	145555292|145555292	0.027000|0.027000	0.19231|0.19231	0.021000|0.021000	0.16686|0.16686	0.916000|0.916000	0.54674|0.54674	0.373000|0.373000	0.20484|0.20484	-0.265000|-0.265000	0.09352|0.09352	0.456000|0.456000	0.33151|0.33151	CTT|TCT		0.682	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		40	402	1	0	3.38236e-24	1	3.86174e-24	40	402				
TP53BP1	7158	broad.mit.edu	37	15	43713271	43713271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43713271C>T	ENST00000263801.3	-	20	4439	c.4187G>A	c.(4186-4188)cGt>cAt	p.R1396H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1396					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCCACGCCCACGAGGCGTGAC	0.572								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4186-4188)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							112.0	100.0	104.0					15																	43713271		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43713271C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4187G>A	15.37:g.43713271C>T	ENSP00000263801:p.Arg1396His					TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382039.3_Intron	p.R1396H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	20	4439	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1396					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4187G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124623	0.77436	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000450115	T;T;T	0.16597	2.36;2.36;2.33	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.32530	0.975	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.991;0.982;0.992;0.992	T	0.04522	-1.0945	10	0.72032	D	0.01	-11.394	19.5806	0.95465	0.0:1.0:0.0:0.0	.	1401;1396;1401;1401	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1396;1401;1401	ENSP00000263801:R1396H;ENSP00000371475:R1401H;ENSP00000393497:R1401H	ENSP00000263801:R1396H	R	-	2	0	TP53BP1	41500563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.943000	0.70211	2.686000	0.91538	0.650000	0.86243	CGT		0.572	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			124	537	0	0	0	1	0	124	537				
BRINP2	57795	broad.mit.edu	37	1	177247923	177247923	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177247923T>C	ENST00000361539.4	+	7	1547		c.e7+2		BRINP2_ENST00000478325.1_Splice_Site	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CAAGGAGAGGTGAGCACCCCC	0.607																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.e7+2									34.0	35.0	35.0					1																	177247923		2203	4300	6503	SO:0001630	splice_region_variant	0					extracellular region		g.chr1:177247923T>C		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1235+2T>C	1.37:g.177247923T>C						FAM5B_ENST00000478325.1_Splice_Site		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			7	1547	+								O95560|Q6ZWC1|Q7LCZ9|Q8N360	Splice_Site	SNP	ENST00000361539.4	37		CCDS1320.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460510	0.84317	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8821	0.70542	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM5B	175514546	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.888000	0.87302	2.000000	0.58554	0.533000	0.62120	.		0.607	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	Intron	20	341	0	0	0	1	0	20	341				
DNAL4	10126	broad.mit.edu	37	22	39176946	39176946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39176946G>T	ENST00000216068.4	-	3	382	c.138C>A	c.(136-138)ttC>ttA	p.F46L	DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L|DNAL4_ENST00000486019.1_Intron|SUN2_ENST00000406622.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	46					microtubule-based process (GO:0007017)|neurotrophin TRK receptor signaling pathway (GO:0048011)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(1)|skin(1)	2	Melanoma(58;0.04)					TGTTGTTGGAGAATTTCTCAC	0.557																																						ENST00000216068.4																			0				lung(1)|skin(1)	2						c.(136-138)ttC>ttA		dynein, axonemal, light chain 4							145.0	114.0	125.0					22																	39176946		2203	4300	6503	SO:0001583	missense	10126				microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity	g.chr22:39176946G>T	AL035366	CCDS13979.1	22q13.1	2008-06-10	2006-09-04		ENSG00000100246	ENSG00000100246		"""Axonemal dyneins"""	2955	protein-coding gene	gene with protein product		610565	"""dynein, axonemal, light polypeptide 4"", ""dynein, axonemal, light 4"""			10591208	Standard	NM_005740		Approved	dJ327J16, PIG27	uc003awj.3	O96015	OTTHUMG00000151025	ENST00000216068.4:c.138C>A	22.37:g.39176946G>T	ENSP00000216068:p.Phe46Leu					SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000486019.1_Intron|DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L	p.F46L	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN			3	382	-	Melanoma(58;0.04)		46					Q6FGB2|Q6FGD0	Missense_Mutation	SNP	ENST00000216068.4	37	c.138C>A	CCDS13979.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310387	0.60414	.	.	ENSG00000100246	ENST00000216068;ENST00000406199	.	.	.	5.21	4.2	0.49525	.	0.193608	0.56097	D	0.000037	T	0.65281	0.2676	M	0.81239	2.535	0.51012	D	0.999905	B	0.21225	0.053	B	0.35353	0.201	T	0.66654	-0.5869	9	0.48119	T	0.1	.	7.6392	0.28284	0.2353:0.0:0.7647:0.0	.	46	O96015	DNAL4_HUMAN	L	46	.	ENSP00000216068:F46L	F	-	3	2	DNAL4	37506892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.204000	0.42761	2.428000	0.82296	0.561000	0.74099	TTC		0.557	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321032.1	NM_005740		37	167	1	0	1.15183e-24	1	1.31825e-24	37	167				
ZNF345	25850	broad.mit.edu	37	19	37368427	37368427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368427G>A	ENST00000529555.1	+	2	1483	c.695G>A	c.(694-696)tGc>tAc	p.C232Y	ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	232					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)			CCTTATGAATGCAAAGCATGT	0.418																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(694-696)tGc>tAc		zinc finger protein 345							78.0	75.0	76.0					19																	37368427		2203	4300	6503	SO:0001583	missense	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.chr19:37368427G>A	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.695G>A	19.37:g.37368427G>A	ENSP00000431202:p.Cys232Tyr					ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y	p.C232Y			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1483	+	Esophageal squamous(110;0.183)		232						Missense_Mutation	SNP	ENST00000529555.1	37	c.695G>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599527	0.66332	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	D;D	0.85088	-1.94;-1.94	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93167	0.7824	M	0.89601	3.045	0.39967	D	0.974745	D	0.89917	1.0	D	0.97110	1.0	D	0.94805	0.7974	9	0.72032	D	0.01	.	14.2701	0.66147	0.0:0.0:1.0:0.0	.	232	Q14585	ZN345_HUMAN	Y	232	ENSP00000431216:C232Y;ENSP00000431202:C232Y	ENSP00000431216:C232Y	C	+	2	0	ZNF345	42060267	1.000000	0.71417	0.769000	0.31535	0.925000	0.55904	6.633000	0.74286	2.280000	0.76307	0.561000	0.74099	TGC		0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			56	284	0	0	0	1	0	56	284				
STAT6	6778	broad.mit.edu	37	12	57499063	57499063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499063G>A	ENST00000300134.3	-	9	1197	c.872C>T	c.(871-873)gCt>gTt	p.A291V	STAT6_ENST00000538913.2_Missense_Mutation_p.A181V|STAT6_ENST00000454075.3_Missense_Mutation_p.A291V|STAT6_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V|STAT6_ENST00000556155.1_Missense_Mutation_p.A291V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	291					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCGAACTCCAGCCTGGAACTT	0.627																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(871-873)gCt>gTt		signal transducer and activator of transcription 6, interleukin-4 induced							41.0	46.0	44.0					12																	57499063		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499063G>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.872C>T	12.37:g.57499063G>A	ENSP00000300134:p.Ala291Val					STAT6_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000538913.2_Missense_Mutation_p.A181V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V|STAT6_ENST00000556155.1_Missense_Mutation_p.A291V|STAT6_ENST00000454075.3_Missense_Mutation_p.A291V	p.A291V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1197	-			291					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.872C>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004075	0.93287	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.64	4.64	0.57946	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.060447	0.64402	D	0.000003	T	0.76601	0.4010	N	0.20304	0.555	0.58432	D	0.999997	D;D	0.71674	0.998;0.994	D;D	0.70227	0.968;0.949	T	0.80520	-0.1346	10	0.87932	D	0	-10.5878	15.0492	0.71854	0.0:0.0:1.0:0.0	.	291;291	A8K4S9;P42226	.;STAT6_HUMAN	V	291;181;181;291;291;181;291;181;291	ENSP00000300134:A291V;ENSP00000445409:A181V;ENSP00000438451:A291V;ENSP00000451742:A291V;ENSP00000444530:A181V;ENSP00000401486:A291V	ENSP00000300134:A291V	A	-	2	0	STAT6	55785330	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	9.485000	0.97942	2.403000	0.81681	0.561000	0.74099	GCT		0.627	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		11	400	0	0	0	1	0	11	400				
CSRP2BP	57325	broad.mit.edu	37	20	18143582	18143582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18143582G>A	ENST00000435364.3	+	6	2005	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R554Q	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	555					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCTTGACCGATACCAGGTG	0.527																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(1663-1665)cGa>cAa		CSRP2 binding protein							46.0	42.0	43.0					20																	18143582		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18143582G>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1664G>A	20.37:g.18143582G>A	ENSP00000392318:p.Arg555Gln					CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.R554Q|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.R555Q	p.R555Q			Q9H8E8	CSR2B_HUMAN			7	2314	+			555					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.1664G>A	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263816	0.95399	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.23754	1.89;1.89;1.89;1.9	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.56135	-0.8029	10	0.72032	D	0.01	-18.9691	19.6614	0.95875	0.0:0.0:1.0:0.0	.	427;555	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	Q	555;554;555;427	ENSP00000278816:R555Q;ENSP00000366909:R554Q;ENSP00000392318:R555Q;ENSP00000425909:R427Q	ENSP00000278816:R555Q	R	+	2	0	CSRP2BP	18091582	1.000000	0.71417	0.987000	0.45799	0.928000	0.56348	9.060000	0.93907	2.633000	0.89246	0.655000	0.94253	CGA		0.527	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		19	140	0	0	0	1	0	19	140				
REG1A	5967	broad.mit.edu	37	2	79348758	79348758	+	Silent	SNP	C	C	A	rs11557479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79348758C>A	ENST00000233735.1	+	3	238	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	45	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCTATCGCTCCTACTGCTACT	0.537																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(133-135)tcC>tcA		regenerating islet-derived 1 alpha							175.0	172.0	173.0					2																	79348758		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348758C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.135C>A	2.37:g.79348758C>A							p.S45S	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			3	238	+			45			C-type lectin.		P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.135C>A	CCDS1964.1																																																																																				0.537	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		33	1277	1	0	3.08376e-08	1	3.21767e-08	33	1277				
EXOSC6	118460	broad.mit.edu	37	16	70286690	70286690	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70286690G>A	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Silent_p.C947C	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CCTCCTGCAGGCAGCCAACGT	0.607											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2839-2841)tgC>tgT		alanyl-tRNA synthetase	L-Alanine(DB00160)						102.0	97.0	99.0					16																	70286690		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70286690G>A	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70286690G>A	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.C947C	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	21	2984	-		Ovarian(137;0.0365)	947						Silent	SNP	ENST00000435634.1	37	c.2841C>T	CCDS10887.1																																																																																				0.607	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		24	614	0	0	0	1	0	24	614				
PNLIPRP2	5408	broad.mit.edu	37	10	118385552	118385552	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118385552G>A	ENST00000298771.7	+	0	325				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TAGACAAGGCGGAGGACAGCT	0.547																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							61.0	65.0	64.0					10																	118385552		2156	4284	6440			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118385552G>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118385552G>A						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	326	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37																																																																																						0.547	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		25	132	0	0	0	1	0	25	132				
TMCC1	23023	broad.mit.edu	37	3	129370342	129370342	+	Missense_Mutation	SNP	G	G	T	rs114782689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129370342G>T	ENST00000393238.3	-	6	2284	c.1944C>A	c.(1942-1944)ttC>ttA	p.F648L	TMCC1_ENST00000426664.2_Missense_Mutation_p.F534L|TMCC1_ENST00000432054.2_Missense_Mutation_p.F324L|TMCC1_ENST00000329333.5_Missense_Mutation_p.F469L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	648						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGGATGAAAAGAACCGTTCCA	0.493																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1942-1944)ttC>ttA		transmembrane and coiled-coil domain family 1							135.0	134.0	134.0					3																	129370342		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370342G>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1944C>A	3.37:g.129370342G>T	ENSP00000376930:p.Phe648Leu					TMCC1_ENST00000329333.5_Missense_Mutation_p.F469L|TMCC1_ENST00000432054.2_Missense_Mutation_p.F324L|TMCC1_ENST00000426664.2_Missense_Mutation_p.F534L	p.F648L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2284	-			648					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1944C>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	0.971	-0.700009	0.03279	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.38887	1.11;1.72;1.72;1.13	5.42	4.55	0.56014	.	0.265483	0.43919	N	0.000512	T	0.23171	0.0560	N	0.22421	0.69	0.32374	N	0.555462	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24657	-1.0154	10	0.02654	T	1	-5.8053	9.3168	0.37939	0.0722:0.0:0.7845:0.1433	.	469;648	B4DE04;O94876	.;TMCC1_HUMAN	L	324;648;534;469	ENSP00000404711:F324L;ENSP00000376930:F648L;ENSP00000389892:F534L;ENSP00000327349:F469L	ENSP00000327349:F469L	F	-	3	2	TMCC1	130853032	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	1.215000	0.32431	1.521000	0.48983	0.650000	0.86243	TTC		0.493	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		83	493	1	0	2.73807e-63	1	3.45546e-63	83	493				
BNC2	54796	broad.mit.edu	37	9	16436949	16436949	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436949T>C	ENST00000380672.4	-	6	1300	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	BNC2_ENST00000545497.1_Missense_Mutation_p.T320A|BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000380666.2_Missense_Mutation_p.T415A	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGTTTTGGTTAGATCACTG	0.483																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1243-1245)Acc>Gcc		basonuclin 2							83.0	78.0	80.0					9																	16436949		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436949T>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1243A>G	9.37:g.16436949T>C	ENSP00000370047:p.Thr415Ala					BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000380666.2_Missense_Mutation_p.T415A|BNC2_ENST00000545497.1_Missense_Mutation_p.T320A	p.T415A	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1300	-			415						Missense_Mutation	SNP	ENST00000380672.4	37	c.1243A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	0.117	-1.131188	0.01756	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.30981	1.53;1.52;1.54;1.54;1.51	6.07	2.28	0.28536	.	0.910256	0.09748	N	0.761036	T	0.13970	0.0338	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	T	0.34153	-0.9840	10	0.18276	T	0.48	-7.7067	5.7067	0.17913	0.5184:0.0903:0.0:0.3913	.	320;348;415;241;415;372;415;320;180	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	415;372;348;320;241;415;415	ENSP00000370047:T415A;ENSP00000408370:T372A;ENSP00000370042:T348A;ENSP00000444640:T320A;ENSP00000370041:T415A	ENSP00000370041:T415A	T	-	1	0	BNC2	16426949	0.510000	0.26171	0.715000	0.30552	0.046000	0.14306	1.029000	0.30140	0.462000	0.27095	0.533000	0.62120	ACC		0.483	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		53	240	0	0	0	1	0	53	240				
DNAH2	146754	broad.mit.edu	37	17	7735942	7735942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7735942G>A	ENST00000572933.1	+	83	14232	c.12772G>A	c.(12772-12774)Gcc>Acc	p.A4258T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4258					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGGGACTTGGCCATGCGTGT	0.572																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12772-12774)Gcc>Acc		dynein, axonemal, heavy chain 2							97.0	103.0	101.0					17																	7735942		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7735942G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12772G>A	17.37:g.7735942G>A	ENSP00000458355:p.Ala4258Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T	p.A4258T			Q9P225	DYH2_HUMAN			83	14232	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4258					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.12772G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697938	0.30142	.	.	ENSG00000183914	ENST00000389173	T	0.08458	3.09	5.41	5.41	0.78517	Dynein heavy chain (1);	0.376486	0.26586	N	0.023552	T	0.07503	0.0189	N	0.16098	0.37	0.80722	D	1	B	0.18310	0.027	B	0.22152	0.038	T	0.34054	-0.9844	10	0.49607	T	0.09	.	17.9726	0.89118	0.0:0.0:1.0:0.0	.	4258	Q9P225	DYH2_HUMAN	T	4258	ENSP00000373825:A4258T	ENSP00000373825:A4258T	A	+	1	0	DNAH2	7676667	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.988000	0.49386	2.546000	0.85860	0.591000	0.81541	GCC		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		181	790	0	0	0	1	0	181	790				
FAM193B	54540	broad.mit.edu	37	5	176951655	176951655	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176951655G>A	ENST00000514747.1	-	6	1875	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Silent_p.S235S|FAM193B_ENST00000443375.2_Silent_p.S576S	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	689						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TTGGCTCCTCGGAGCTGGGGT	0.617																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(703-705)tcC>tcT		family with sequence similarity 193, member B							25.0	27.0	26.0					5																	176951655		1943	4142	6085	SO:0001819	synonymous_variant	54540							g.chr5:176951655G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1827C>T	5.37:g.176951655G>A						FAM193B_ENST00000443375.2_Silent_p.S576S|FAM193B_ENST00000514747.1_Silent_p.S609S	p.S235S			Q6IPW0	Q6IPW0_HUMAN			9	3534	-			285					E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	c.705C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224585	0.01530	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.75	-7.75	0.01236	.	.	.	.	.	.	.	.	.	.	.	0.36557	D	0.872203	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2505	2.8772	0.05635	0.2684:0.154:0.4011:0.1765	.	.	.	.	X	295	.	.	R	-	1	2	FAM193B	176884261	0.000000	0.05858	0.051000	0.19133	0.046000	0.14306	-0.160000	0.10041	-1.158000	0.02811	-0.459000	0.05422	CGA		0.617	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		13	195	0	0	0	1	0	13	195				
ZNF354B	117608	broad.mit.edu	37	5	178310195	178310195	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310195T>C	ENST00000322434.3	+	5	968	c.742T>C	c.(742-744)Tta>Cta	p.L248L	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAGAATGTTTAAAAGCTTT	0.343																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(742-744)Tta>Cta		zinc finger protein 354B							65.0	76.0	72.0					5																	178310195		2202	4292	6494	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310195T>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.742T>C	5.37:g.178310195T>C							p.L248L	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	968	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	248					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.742T>C	CCDS4439.1																																																																																				0.343	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		172	511	0	0	0	1	0	172	511				
NCOA5	57727	broad.mit.edu	37	20	44699120	44699120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44699120G>A	ENST00000290231.6	-	3	258	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	32	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R32*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGACTTCCTCGAATTGGGGAT	0.532																																						ENST00000290231.6																			1	Substitution - Nonsense(1)	p.R32*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(94-96)Cga>Tga		nuclear receptor coactivator 5							101.0	100.0	100.0					20																	44699120		2203	4300	6503	SO:0001587	stop_gained	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44699120G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.94C>T	20.37:g.44699120G>A	ENSP00000290231:p.Arg32*						p.R32*	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			3	258	-		Myeloproliferative disorder(115;0.0122)	32			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	37	c.94C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998698	0.97189	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.39	5.39	0.77823	.	0.145205	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0361	18.3288	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000290231:R32X	R	-	1	2	NCOA5	44132527	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.473000	0.53122	2.801000	0.96364	0.650000	0.86243	CGA		0.532	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		138	572	0	0	0	1	0	138	572				
SORCS2	57537	broad.mit.edu	37	4	7705999	7705999	+	Missense_Mutation	SNP	C	C	T	rs201433688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7705999C>T	ENST00000507866.2	+	14	1965	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	619					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGGACGAGACGCTGGTCATG	0.662																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1855-1857)aCg>aTg		sortilin-related VPS10 domain containing receptor 2		C	MET/THR	0,4272		0,0,2136	44.0	50.0	48.0		1856	2.7	1.0	4		48	4,8468		0,4,4232	yes	missense	SORCS2	NM_020777.2	81	0,4,6368	TT,TC,CC		0.0472,0.0,0.0314	probably-damaging	619/1160	7705999	4,12740	2136	4236	6372	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7705999C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1856C>T	4.37:g.7705999C>T	ENSP00000422185:p.Thr619Met					SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	p.T619M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			14	1965	+			619					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1856C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124635	0.37533	0.0	4.72E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.30981	1.51;1.51	3.52	2.67	0.31697	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.85197	2.74	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60031	-0.7342	10	0.87932	D	0	.	10.0073	0.41964	0.0:0.8942:0.0:0.1058	.	447;619	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	619;447	ENSP00000422185:T619M;ENSP00000329124:T447M	ENSP00000329124:T447M	T	+	2	0	SORCS2	7756899	1.000000	0.71417	0.997000	0.53966	0.108000	0.19459	6.211000	0.72182	0.799000	0.34018	-0.136000	0.14681	ACG		0.662	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		12	81	0	0	0	1	0	12	81				
NR1D2	9975	broad.mit.edu	37	3	24003495	24003495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24003495G>A	ENST00000312521.4	+	5	864	c.545G>A	c.(544-546)cGt>cAt	p.R182H	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	182	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATTCCTAAGCGTGAAAAACAG	0.338																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(544-546)cGt>cAt		nuclear receptor subfamily 1, group D, member 2							70.0	63.0	65.0					3																	24003495		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24003495G>A	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.545G>A	3.37:g.24003495G>A	ENSP00000310006:p.Arg182His					NR1D2_ENST00000492552.1_3'UTR	p.R182H	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN			5	864	+			182					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.545G>A	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277576	0.95459	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96396	-4.0	5.98	5.98	0.97165	Nuclear hormone receptor, ligand-binding (1);	0.104396	0.64402	D	0.000004	D	0.97939	0.9322	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98254	1.0495	10	0.87932	D	0	.	20.4447	0.99122	0.0:0.0:1.0:0.0	.	182	Q14995	NR1D2_HUMAN	H	182	ENSP00000310006:R182H	ENSP00000310006:R182H	R	+	2	0	NR1D2	23978499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.396000	0.97270	2.834000	0.97654	0.655000	0.94253	CGT		0.338	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			34	157	0	0	0	1	0	34	157				
MYO7A	4647	broad.mit.edu	37	11	76870504	76870504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76870504G>A	ENST00000409709.3	+	10	1287	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	339	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.E339Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGCACATTTGAAAACCTGGA	0.602																																						ENST00000409709.3																			1	Substitution - Missense(1)	p.E339Q(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1015-1017)Gaa>Aaa		myosin VIIA							84.0	84.0	84.0					11																	76870504		1975	4154	6129	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76870504G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1015G>A	11.37:g.76870504G>A	ENSP00000386331:p.Glu339Lys					MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K	p.E339K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			10	1287	+			339			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1015G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269780	0.40095	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.218301	0.38720	N	0.001598	T	0.63307	0.2500	L	0.31294	0.92	0.44323	D	0.997201	B;B;B	0.23990	0.095;0.024;0.087	B;B;B	0.27076	0.063;0.025;0.076	T	0.59563	-0.7431	10	0.38643	T	0.18	.	18.6353	0.91376	0.0:0.0:1.0:0.0	.	339;339;339	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	339;339;339;328;338;338;338	ENSP00000386331:E339K;ENSP00000386689:E339K;ENSP00000392185:E339K;ENSP00000386635:E328K	ENSP00000340325:E338K	E	+	1	0	MYO7A	76548152	1.000000	0.71417	0.993000	0.49108	0.343000	0.28985	7.571000	0.82399	2.392000	0.81423	0.591000	0.81541	GAA		0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		35	271	0	0	0	1	0	35	271				
LGSN	51557	broad.mit.edu	37	6	64004931	64004931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004931C>T	ENST00000370657.4	-	2	83	c.50G>A	c.(49-51)gGc>gAc	p.G17D	LGSN_ENST00000370658.5_Missense_Mutation_p.G17D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	17					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTCTCATTGCCTTCATCTCT	0.343																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(49-51)gGc>gAc		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						222.0	198.0	206.0					6																	64004931		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004931C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.50G>A	6.37:g.64004931C>T	ENSP00000359691:p.Gly17Asp					LGSN_ENST00000370657.4_Missense_Mutation_p.G17D	p.G17D	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			2	83	-			17					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.50G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339613	0.01277	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.29917	1.55;1.71	4.71	-3.36	0.04913	.	1.469430	0.03347	N	0.195606	T	0.06142	0.0159	L	0.28115	0.83	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.0	T	0.24941	-1.0146	10	0.42905	T	0.14	-0.0486	2.1585	0.03819	0.1468:0.2274:0.1273:0.4985	.	17;17;17	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	D	17	ENSP00000359692:G17D;ENSP00000359691:G17D	ENSP00000359691:G17D	G	-	2	0	LGSN	64062890	0.000000	0.05858	0.044000	0.18714	0.045000	0.14185	-1.711000	0.01886	-0.751000	0.04734	-0.218000	0.12543	GGC		0.343	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		49	263	0	0	0	1	0	49	263				
RBM46	166863	broad.mit.edu	37	4	155719270	155719270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155719270G>T	ENST00000281722.3	+	3	694	c.459G>T	c.(457-459)aaG>aaT	p.K153N	RBM46_ENST00000514866.1_Missense_Mutation_p.K153N|RBM46_ENST00000510397.1_Missense_Mutation_p.K153N	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	153	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGAAAAGAAGAAAGAAGAAA	0.328																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(457-459)aaG>aaT		RNA binding motif protein 46							62.0	68.0	66.0					4																	155719270		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155719270G>T	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.459G>T	4.37:g.155719270G>T	ENSP00000281722:p.Lys153Asn					RBM46_ENST00000281722.3_Missense_Mutation_p.K153N|RBM46_ENST00000514866.1_Missense_Mutation_p.K153N	p.K153N	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			3	638	+	all_hematologic(180;0.24)	Renal(120;0.0854)	153			RRM 2.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.459G>T	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354214	0.41700	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.15487	2.42;2.42;2.42	5.79	0.892	0.19230	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.102857	0.64402	D	0.000002	T	0.26702	0.0653	L	0.54323	1.7	0.39437	D	0.967185	B;P;P	0.41569	0.34;0.755;0.578	B;P;P	0.53809	0.215;0.735;0.568	T	0.02617	-1.1133	10	0.48119	T	0.1	-17.5845	10.4173	0.44329	0.5062:0.0:0.4938:0.0	.	153;153;153	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	N	153	ENSP00000424500:K153N;ENSP00000281722:K153N;ENSP00000422813:K153N	ENSP00000281722:K153N	K	+	3	2	RBM46	155938720	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.876000	0.39588	0.189000	0.20188	-0.251000	0.11542	AAG		0.328	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		63	343	1	0	8.77104e-35	1	1.04431e-34	63	343				
WNT2B	7482	broad.mit.edu	37	1	113059749	113059749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059749C>T	ENST00000369684.4	+	4	1173	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R211W|WNT2B_ENST00000256640.5_Missense_Mutation_p.R138W	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	230					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGCTGTGCGGCGGTTTCT	0.562																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(688-690)Cgg>Tgg		wingless-type MMTV integration site family, member 2B							81.0	71.0	74.0					1																	113059749		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059749C>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.688C>T	1.37:g.113059749C>T	ENSP00000358698:p.Arg230Trp					WNT2B_ENST00000369686.4_Missense_Mutation_p.R211W|WNT2B_ENST00000256640.5_Missense_Mutation_p.R138W	p.R230W	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1173	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	230					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.688C>T	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525675	0.64860	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.76839	-1.05;-1.05;-1.05	5.53	5.53	0.82687	.	0.050131	0.85682	D	0.000000	T	0.54224	0.1845	L	0.29908	0.895	0.43317	D	0.995338	B;B	0.17852	0.024;0.02	B;B	0.14023	0.01;0.006	T	0.55179	-0.8181	10	0.39692	T	0.17	.	12.383	0.55317	0.2786:0.7214:0.0:0.0	.	230;211	Q93097;Q93097-2	WNT2B_HUMAN;.	W	138;211;230	ENSP00000256640:R138W;ENSP00000358700:R211W;ENSP00000358698:R230W	ENSP00000256640:R138W	R	+	1	2	WNT2B	112861272	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.692000	0.54727	2.599000	0.87857	0.555000	0.69702	CGG		0.562	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		84	312	0	0	0	1	0	84	312				
SRP68	6730	broad.mit.edu	37	17	74057202	74057202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74057202G>T	ENST00000307877.2	-	6	904	c.743C>A	c.(742-744)gCa>gAa	p.A248E	SRP68_ENST00000539137.1_Missense_Mutation_p.A210E|SRP68_ENST00000355113.5_Missense_Mutation_p.A147E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	248					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AATATTATATGCACAATAGCG	0.443																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(742-744)gCa>gAa		signal recognition particle 68kDa							198.0	184.0	189.0					17																	74057202		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74057202G>T	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.743C>A	17.37:g.74057202G>T	ENSP00000312066:p.Ala248Glu					SRP68_ENST00000355113.5_Missense_Mutation_p.A147E|SRP68_ENST00000539137.1_Missense_Mutation_p.A210E	p.A248E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			6	904	-			248					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.743C>A	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566004	0.86439	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.36	4.37	0.52481	Tetratricopeptide-like helical (1);	0.045681	0.85682	N	0.000000	T	0.52901	0.1763	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52117	-0.8618	10	0.35671	T	0.21	-10.5003	15.5106	0.75779	0.0:0.0:0.8604:0.1396	.	210;248	G3V1U4;Q9UHB9	.;SRP68_HUMAN	E	210;248;248;248;147	ENSP00000446136:A210E;ENSP00000312066:A248E;ENSP00000347233:A147E	ENSP00000307756:A248E	A	-	2	0	SRP68	71568797	1.000000	0.71417	0.852000	0.33557	0.950000	0.60333	7.903000	0.87398	1.361000	0.45981	0.462000	0.41574	GCA		0.443	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		126	625	1	0	5.34577e-75	1	6.81469e-75	126	625				
PLAA	9373	broad.mit.edu	37	9	26905793	26905793	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26905793G>A	ENST00000397292.3	-	14	2521	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	702	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATGTAGCCAGAGCAATGTGA	0.418																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(2104-2106)Ctg>Ttg		phospholipase A2-activating protein							125.0	115.0	118.0					9																	26905793		2203	4300	6503	SO:0001819	synonymous_variant	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905793G>A	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2104C>T	9.37:g.26905793G>A							p.L702L	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2521	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	702			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Silent	SNP	ENST00000397292.3	37	c.2104C>T	CCDS35000.1																																																																																				0.418	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		49	195	0	0	0	1	0	49	195				
CDK15	65061	broad.mit.edu	37	2	202744820	202744820	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744820C>A	ENST00000374598.4	+	12	1128	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000410091.3_Silent_p.V325V|CDK15_ENST00000450471.2_Silent_p.V376V			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	376	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAGACCGCGTCTCCGCCCAGG	0.547																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(1126-1128)gtC>gtA		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						87.0	77.0	80.0					2																	202744820		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744820C>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1128C>A	2.37:g.202744820C>A						CDK15_ENST00000410091.3_Silent_p.V325V|CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000374598.4_Silent_p.V376V	p.V376V	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			12	1214	+			376			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.1128C>A																																																																																					0.547	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			57	211	1	0	7.10663e-31	1	8.35009e-31	57	211				
ARHGEF37	389337	broad.mit.edu	37	5	149006811	149006811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006811G>A	ENST00000333677.6	+	11	1800	c.1637G>A	c.(1636-1638)gGc>gAc	p.G546D		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGCAACAGCGGCCGCTGGCTG	0.612																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1636-1638)gGc>gAc		Rho guanine nucleotide exchange factor (GEF) 37							64.0	76.0	72.0					5																	149006811		2049	4172	6221	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149006811G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1637G>A	5.37:g.149006811G>A	ENSP00000328083:p.Gly546Asp						p.G546D	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			11	1800	+			546			SH3 1.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1637G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	7.143	0.582229	0.13749	.	.	ENSG00000183111	ENST00000333677	T	0.09073	3.02	5.11	2.38	0.29361	Src homology-3 domain (2);Variant SH3 (1);	0.568279	0.20454	N	0.092025	T	0.05593	0.0147	N	0.21448	0.665	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.37572	-0.9700	10	0.31617	T	0.26	.	7.7404	0.28837	0.3962:0.0:0.6038:0.0	.	546	A1IGU5	ARH37_HUMAN	D	546	ENSP00000328083:G546D	ENSP00000328083:G546D	G	+	2	0	ARHGEF37	148987004	0.037000	0.19845	0.505000	0.27651	0.702000	0.40608	1.513000	0.35823	0.573000	0.29400	-0.221000	0.12465	GGC		0.612	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		99	492	0	0	0	1	0	99	492				
LCN9	392399	broad.mit.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(424-426)tgC>tgT		lipocalin 9							44.0	44.0	44.0					9																	138557549		1925	4121	6046	SO:0001819	synonymous_variant	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138557549C>T	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.426C>T	9.37:g.138557549C>T						LCN9_ENST00000430290.2_3'UTR	p.C142C	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	5	426	+		Myeloproliferative disorder(178;0.0821)	142					C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	37	c.426C>T	CCDS56593.1																																																																																				0.572	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		19	83	0	0	0	1	0	19	83				
FGB	2244	broad.mit.edu	37	4	155487037	155487037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487037G>A	ENST00000302068.4	+	2	255	c.192G>A	c.(190-192)ccG>ccA	p.P64P	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	64			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGCCCCACCGCCCATCAGTG	0.557																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)ccG>ccA		fibrinogen beta chain	Sucralfate(DB00364)						39.0	43.0	42.0					4																	155487037		2203	4300	6503	SO:0001819	synonymous_variant	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487037G>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.192G>A	4.37:g.155487037G>A						FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	p.P64P	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			2	255	+	all_hematologic(180;0.215)	Renal(120;0.0458)	64		Missing (in New York-1).			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Silent	SNP	ENST00000302068.4	37	c.192G>A	CCDS3786.1																																																																																				0.557	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		42	270	0	0	0	1	0	42	270				
MED26	9441	broad.mit.edu	37	19	16688461	16688461	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688461G>A	ENST00000263390.3	-	3	442	c.180C>T	c.(178-180)gtC>gtT	p.V60V	CTD-3222D19.2_ENST00000409035.1_Silent_p.V68V|CTC-429P9.4_ENST00000593962.1_5'UTR	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	60	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTTTCTTGCGGACGTCGTTGA	0.567																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(178-180)gtC>gtT		mediator complex subunit 26							49.0	54.0	52.0					19																	16688461		2203	4300	6503	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688461G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.180C>T	19.37:g.16688461G>A						CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Silent_p.V68V	p.V60V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	442	-			60			TFIIS N-terminal.		A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.180C>T	CCDS12347.1																																																																																				0.567	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		12	463	0	0	0	1	0	12	463				
OR52R1	119695	broad.mit.edu	37	11	4825055	4825055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4825055C>T	ENST00000356069.2	-	1	555	c.556G>A	c.(556-558)Gct>Act	p.A186T	OR52R1_ENST00000380382.1_Missense_Mutation_p.A265T|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCACAGCCATGTGCTCA	0.522																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(793-795)Gct>Act		olfactory receptor, family 52, subfamily R, member 1							169.0	129.0	143.0					11																	4825055		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825055C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.556G>A	11.37:g.4825055C>T	ENSP00000348368:p.Ala186Thr					OR52R1_ENST00000356069.2_Missense_Mutation_p.A186T|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.A265T			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	792	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	186					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.793G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959914	0.74016	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00130	8.69;8.69	5.46	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	T	0.00666	0.0022	M	0.93462	3.42	0.31836	N	0.624071	D	0.76494	0.999	D	0.76071	0.987	T	0.06197	-1.0840	10	0.87932	D	0	.	14.3226	0.66496	0.1497:0.8503:0.0:0.0	.	186	Q8NGF1	O52R1_HUMAN	T	186;265	ENSP00000348368:A186T;ENSP00000369742:A265T	ENSP00000348368:A186T	A	-	1	0	OR52R1	4781631	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.389000	0.20751	1.505000	0.48720	0.650000	0.86243	GCT		0.522	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		95	382	0	0	0	1	0	95	382				
SERPINC1	462	broad.mit.edu	37	1	173878870	173878870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173878870C>T	ENST00000367698.3	-	5	1091	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	325					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCTACCTTGGCCAGGCTCTTC	0.562																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(973-975)Gcc>Acc		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						144.0	136.0	139.0					1																	173878870		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878870C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.973G>A	1.37:g.173878870C>T	ENSP00000356671:p.Ala325Thr						p.A325T	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			5	1091	-			325					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.973G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023934	0.08006	.	.	ENSG00000117601	ENST00000367698	D	0.82711	-1.64	5.45	3.58	0.41010	Serpin domain (3);	0.660844	0.16797	N	0.199144	T	0.60869	0.2302	L	0.48260	1.515	0.22873	N	0.998623	B	0.02656	0.0	B	0.04013	0.001	T	0.48969	-0.8987	10	0.24483	T	0.36	.	12.0354	0.53423	0.0:0.7947:0.0:0.2053	.	325	P01008	ANT3_HUMAN	T	325	ENSP00000356671:A325T	ENSP00000356671:A325T	A	-	1	0	SERPINC1	172145493	0.737000	0.28175	1.000000	0.80357	0.227000	0.25037	0.568000	0.23623	0.289000	0.22422	-0.797000	0.03246	GCC		0.562	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		120	659	0	0	0	1	0	120	659				
CHIT1	1118	broad.mit.edu	37	1	203192354	203192354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192354T>G	ENST00000367229.1	-	6	548	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	172					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTCCCTGAGGTCTGGGCTTCC	0.612																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(514-516)Acc>Ccc		chitinase 1 (chitotriosidase)							121.0	112.0	115.0					1																	203192354		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192354T>G	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.514A>C	1.37:g.203192354T>G	ENSP00000356198:p.Thr172Pro					CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P|CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P	p.T172P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			6	548	-			172					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.514A>C	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	T	3.860	-0.030107	0.07543	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.35048	1.33;1.33;1.33	4.62	-9.25	0.00666	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.613330	0.01479	N	0.016587	T	0.19127	0.0459	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.08066	-1.0740	10	0.29301	T	0.29	-6.2198	4.2602	0.10737	0.3045:0.4553:0.1027:0.1376	.	163;172	G5EA51;Q13231	.;CHIT1_HUMAN	P	172;153;163	ENSP00000356198:T172P;ENSP00000255427:T153P;ENSP00000438078:T163P	ENSP00000255427:T153P	T	-	1	0	CHIT1	201458977	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.396000	0.07278	-2.245000	0.00705	-0.333000	0.08304	ACC		0.612	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		161	524	0	0	0	1	0	161	524				
RABEP2	79874	broad.mit.edu	37	16	28920040	28920040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28920040G>A	ENST00000358201.4	-	8	1723	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W|RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	379					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATTCAACCGCTTTACCTCA	0.607																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1135-1137)Cgg>Tgg		rabaptin, RAB GTPase binding effector protein 2							136.0	139.0	138.0					16																	28920040		2051	4191	6242	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28920040G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1135C>T	16.37:g.28920040G>A	ENSP00000350934:p.Arg379Trp					RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W|RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W	p.R379W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			8	1723	-			379						Missense_Mutation	SNP	ENST00000358201.4	37	c.1135C>T	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500304	0.64298	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.59083	0.29;0.29;0.29	4.78	2.71	0.32032	Rabaptin, GTPase-Rab5 binding (1);	0.305929	0.25106	N	0.033084	T	0.70202	0.3197	M	0.65498	2.005	0.34244	D	0.67799	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.73380	0.907;0.85;0.98	T	0.77046	-0.2733	10	0.87932	D	0	-22.8773	9.8174	0.40860	0.0:0.0:0.6271:0.3729	.	308;347;379	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	W	379;347;308	ENSP00000350934:R379W;ENSP00000350186:R347W;ENSP00000442798:R308W	ENSP00000350186:R347W	R	-	1	2	RABEP2	28827541	1.000000	0.71417	0.977000	0.42913	0.911000	0.54048	2.256000	0.43231	0.384000	0.24942	0.462000	0.41574	CGG		0.607	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		139	824	0	0	0	1	0	139	824				
TMEM261	90871	broad.mit.edu	37	9	7799703	7799703	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799703G>T	ENST00000358227.4	-	1	364	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	11						integral component of membrane (GO:0016021)											AGTGATATAGGACTCAAAAGG	0.642																																						ENST00000358227.4																			0				lung(1)	1						c.(31-33)tCc>tAc									24.0	25.0	24.0					9																	7799703		2203	4299	6502	SO:0001583	missense	0					integral to membrane		g.chr9:7799703G>T	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 123"""	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.32C>A	9.37:g.7799703G>T	ENSP00000350961:p.Ser11Tyr					C9orf123_ENST00000484082.1_Intron	p.S11Y	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	364	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	11					A8K9B7|Q5T6Y9|Q9NT74	Missense_Mutation	SNP	ENST00000358227.4	37	c.32C>A	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.726697	0.30593	.	.	ENSG00000137038	ENST00000358227	T	0.47177	0.85	4.48	-0.962	0.10333	.	1.000120	0.08080	N	1.000000	T	0.31482	0.0798	N	0.22421	0.69	0.09310	N	1	B;B	0.31893	0.345;0.345	B;B	0.31337	0.128;0.128	T	0.24190	-1.0167	10	0.48119	T	0.1	-5.135	7.4557	0.27266	0.1703:0.3336:0.4961:0.0	.	11;11	Q96GE9-2;Q96GE9	.;CI123_HUMAN	Y	11	ENSP00000350961:S11Y	ENSP00000350961:S11Y	S	-	2	0	C9orf123	7789703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.499000	0.00968	-0.388000	0.07797	-0.829000	0.03081	TCC		0.642	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1	NM_033428		27	175	1	0	5.77227e-19	1	6.42407e-19	27	175				
PCMT1	5110	broad.mit.edu	37	6	150114741	150114741	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150114741C>T	ENST00000367380.5	+	5	561	c.354C>T	c.(352-354)gaC>gaT	p.D118D	PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000367378.1_Silent_p.D176D|PCMT1_ENST00000464889.1_Silent_p.D176D|RP11-350J20.5_ENST00000455607.2_RNA|PCMT1_ENST00000367384.2_Silent_p.D176D	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	118					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TAGTAGATGACTCAGTAAATA	0.373																																						ENST00000464889.1																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(526-528)gaC>gaT		protein-L-isoaspartate (D-aspartate) O-methyltransferase							75.0	78.0	77.0					6																	150114741		2203	4299	6502	SO:0001819	synonymous_variant	5110							g.chr6:150114741C>T		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.354C>T	6.37:g.150114741C>T						PCMT1_ENST00000367378.1_Silent_p.D176D|PCMT1_ENST00000367380.5_Silent_p.D118D|PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000367384.2_Silent_p.D176D	p.D176D					BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)	5	812	+		Ovarian(120;0.0907)						A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Silent	SNP	ENST00000367380.5	37	c.528C>T																																																																																					0.373	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				47	212	0	0	0	1	0	47	212				
DCAF11	80344	broad.mit.edu	37	14	24587623	24587623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24587623C>T	ENST00000446197.3	+	7	1331	c.604C>T	c.(604-606)Cga>Tga	p.R202*	DCAF11_ENST00000396941.4_Nonsense_Mutation_p.R176*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.R102*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.R202*|DCAF11_ENST00000560171.1_3'UTR|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	202					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											CTATGACTGCCGATATGGCCG	0.488																																						ENST00000446197.3																			0											c.(604-606)Cga>Tga		DDB1 and CUL4 associated factor 11							134.0	128.0	130.0					14																	24587623		2203	4300	6503	SO:0001587	stop_gained	0					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24587623C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.604C>T	14.37:g.24587623C>T	ENSP00000415556:p.Arg202*					DCAF11_ENST00000396941.4_Nonsense_Mutation_p.R176*|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.R202*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.R102*	p.R202*	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			7	1331	+			202					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Nonsense_Mutation	SNP	ENST00000446197.3	37	c.604C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	38	7.119805	0.98077	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.4	5.4	0.78164	.	0.241692	0.39834	N	0.001245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-10.2179	11.5785	0.50877	0.1777:0.8223:0.0:0.0	.	.	.	.	X	202;176;102;176	.	ENSP00000323680:R202X	R	+	1	2	DCAF11	23657463	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.172000	0.42463	2.805000	0.96524	0.655000	0.94253	CGA		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			122	547	0	0	0	1	0	122	547				
CCNJL	79616	broad.mit.edu	37	5	159738895	159738895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159738895G>A	ENST00000393977.3	-	2	321	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CCNJL_ENST00000541762.1_Silent_p.A11A|CCNJL_ENST00000257536.7_Silent_p.A12A|CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000505287.2_Intron|CCNJL_ENST00000519673.1_Silent_p.A12A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	12						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACGTCCGAGGCGACGCGCC	0.652																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(34-36)gcC>gcT		cyclin J-like							74.0	85.0	81.0					5																	159738895		2152	4246	6398	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159738895G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.36C>T	5.37:g.159738895G>A						CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000519673.1_Silent_p.A12A|CCNJL_ENST00000541762.1_Silent_p.A11A|CCNJL_ENST00000257536.7_Silent_p.A12A|CCNJL_ENST00000505287.2_Intron	p.A12A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	321	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	12					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.36C>T	CCDS4350.2																																																																																				0.652	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		74	396	0	0	0	1	0	74	396				
PLXNA4	91584	broad.mit.edu	37	7	131859635	131859635	+	Missense_Mutation	SNP	G	G	T	rs539545375	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131859635G>T	ENST00000359827.3	-	21	4881	c.3919C>A	c.(3919-3921)Ctg>Atg	p.L1307M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M			Q9HCM2	PLXA4_HUMAN	plexin A4	1307					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCATCCAGGTCACTGGTC	0.582																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3919-3921)Ctg>Atg		plexin A4							96.0	105.0	102.0					7																	131859635		2167	4293	6460	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131859635G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3919C>A	7.37:g.131859635G>T	ENSP00000352882:p.Leu1307Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M	p.L1307M			Q9HCM2	PLXA4_HUMAN			21	4881	-			1307					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3919C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019699	0.54576	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01295	5.04;5.04	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.03434	0.0099	L	0.42581	1.335	0.80722	D	1	P	0.51933	0.949	P	0.53401	0.725	T	0.57171	-0.7857	10	0.46703	T	0.11	.	12.8721	0.57970	0.0743:0.0:0.9257:0.0	.	1307	Q9HCM2	PLXA4_HUMAN	M	1307	ENSP00000323194:L1307M;ENSP00000352882:L1307M	ENSP00000323194:L1307M	L	-	1	2	PLXNA4	131510175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.289000	0.43523	2.643000	0.89663	0.655000	0.94253	CTG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		67	483	1	0	3.05759e-45	1	3.74787e-45	67	483				
CCT2	10576	broad.mit.edu	37	12	69990949	69990949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69990949C>T	ENST00000299300.6	+	11	1184	c.996C>T	c.(994-996)gcC>gcT	p.A332A	CCT2_ENST00000543146.2_Silent_p.A285A|CCT2_ENST00000544368.2_Silent_p.A332A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	332					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTGAAATTGCCTCTACCTTTG	0.373																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(853-855)gcC>gcT		chaperonin containing TCP1, subunit 2 (beta)							165.0	156.0	159.0					12																	69990949		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69990949C>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.996C>T	12.37:g.69990949C>T						CCT2_ENST00000299300.6_Silent_p.A332A|CCT2_ENST00000544368.2_Silent_p.A332A	p.A285A	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		11	1337	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		332					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.855C>T	CCDS8991.1																																																																																				0.373	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		17	491	0	0	0	1	0	17	491				
SUSD4	55061	broad.mit.edu	37	1	223465901	223465901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223465901C>A	ENST00000343846.3	-	2	874	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S|SUSD4_ENST00000494793.2_Missense_Mutation_p.A81S|SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	81	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGAAATCGGGCTACAGAGCCT	0.512																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(241-243)Gcc>Tcc		sushi domain containing 4							92.0	100.0	97.0					1																	223465901		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223465901C>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.241G>T	1.37:g.223465901C>A	ENSP00000344219:p.Ala81Ser					SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S|SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S	p.A81S			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	874	-			81			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.241G>T	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831577	0.50845	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.65916	-0.18;-0.18;-0.18	5.36	-1.69	0.08186	Complement control module (2);Sushi/SCR/CCP (3);	0.782085	0.11216	N	0.587210	T	0.51736	0.1692	L	0.56280	1.765	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.15484	0.003;0.013	T	0.46048	-0.9219	10	0.87932	D	0	-9.9019	6.24	0.20785	0.1737:0.5783:0.0:0.248	.	81;81	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	S	81	ENSP00000344219:A81S;ENSP00000355843:A81S;ENSP00000339926:A81S	ENSP00000271787:A81S	A	-	1	0	SUSD4	221532524	0.949000	0.32298	0.931000	0.37212	0.952000	0.60782	0.340000	0.19892	-0.230000	0.09840	-0.340000	0.08031	GCC		0.512	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		224	536	1	0	4.5518e-99	1	5.85322e-99	224	536				
MYF5	4617	broad.mit.edu	37	12	81111235	81111235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111235C>T	ENST00000228644.3	+	1	545	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	131	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCGCTACATCGAGAGCCTGC	0.592																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(391-393)atC>atT		myogenic factor 5							96.0	96.0	96.0					12																	81111235		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111235C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.393C>T	12.37:g.81111235C>T							p.I131I	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	545	+			131			Helix-loop-helix motif.		Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.393C>T	CCDS9020.1																																																																																				0.592	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		137	652	0	0	0	1	0	137	652				
ZFAT	57623	broad.mit.edu	37	8	135614438	135614438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614438C>A	ENST00000377838.3	-	6	1698	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	ZFAT_ENST00000520727.1_Missense_Mutation_p.Q496H|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	508					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GAGCTTCTTGCTGGATGTCCC	0.602																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1486-1488)caG>caT		zinc finger and AT hook domain containing							22.0	24.0	23.0					8																	135614438		1891	4113	6004	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614438C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1524G>T	8.37:g.135614438C>A	ENSP00000367069:p.Gln508His					ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT_ENST00000377838.3_Missense_Mutation_p.Q508H|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H	p.Q496H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1787	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		508					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1488G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678896	0.29783	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.11495	2.85;2.78;2.78;2.77;2.78;2.82	6.04	3.28	0.37604	.	0.183522	0.39146	N	0.001442	T	0.08714	0.0216	L	0.32530	0.975	0.46011	D	0.99881	B;B;B;B	0.16166	0.011;0.011;0.016;0.004	B;B;B;B	0.19666	0.01;0.009;0.026;0.003	T	0.15435	-1.0437	10	0.41790	T	0.15	-19.2128	8.868	0.35298	0.0:0.726:0.1347:0.1394	.	446;496;496;508	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	496;496;496;508;496;446;496	ENSP00000427879:Q496H;ENSP00000427831:Q496H;ENSP00000394501:Q496H;ENSP00000367069:Q508H;ENSP00000428483:Q496H;ENSP00000429091:Q446H	ENSP00000367069:Q508H	Q	-	3	2	ZFAT	135683620	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.599000	0.24089	0.892000	0.36259	0.563000	0.77884	CAG		0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		15	143	1	0	0.00244969	1	0.00247089	15	143				
PARP14	54625	broad.mit.edu	37	3	122411328	122411328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122411328A>C	ENST00000474629.2	+	4	802	c.536A>C	c.(535-537)gAc>gCc	p.D179A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCTAATGATGACTTTCAAGTG	0.373																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(535-537)gAc>gCc		poly (ADP-ribose) polymerase family, member 14							154.0	147.0	150.0					3																	122411328		1876	4108	5984	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122411328A>C	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.536A>C	3.37:g.122411328A>C	ENSP00000418194:p.Asp179Ala						p.D179A	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	4	802	+			179					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.536A>C	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563013	0.27915	.	.	ENSG00000173193	ENST00000474629	T	0.71934	-0.61	5.5	5.5	0.81552	.	.	.	.	.	T	0.70535	0.3235	M	0.70275	2.135	0.45261	D	0.998264	B	0.20887	0.049	B	0.19666	0.026	T	0.69239	-0.5197	9	0.54805	T	0.06	.	14.5787	0.68271	1.0:0.0:0.0:0.0	.	179	Q460N5	PAR14_HUMAN	A	179	ENSP00000418194:D179A	ENSP00000420649:D20A	D	+	2	0	PARP14	123894018	0.999000	0.42202	0.595000	0.28798	0.005000	0.04900	3.070000	0.50033	2.308000	0.77769	0.533000	0.62120	GAC		0.373	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		38	136	0	0	0	1	0	38	136				
FAM208B	54906	broad.mit.edu	37	10	5784280	5784280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5784280G>A	ENST00000328090.5	+	14	3173	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	850																	ATGTTCTGCAGACTCTCTGTT	0.428																																						ENST00000328090.5																			0											c.(2548-2550)Gac>Aac		family with sequence similarity 208, member B							149.0	142.0	144.0					10																	5784280		1878	4105	5983	SO:0001583	missense	54906							g.chr10:5784280G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2548G>A	10.37:g.5784280G>A	ENSP00000328426:p.Asp850Asn					RP11-336A10.2_ENST00000411512.2_RNA	p.D850N	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			14	3173	+			850					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2548G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438442	0.62955	.	.	ENSG00000108021	ENST00000328090	D	0.97480	-4.4	5.71	4.8	0.61643	.	0.386439	0.25227	N	0.032200	D	0.97760	0.9265	M	0.72118	2.19	0.30546	N	0.765971	D	0.76494	0.999	D	0.66847	0.947	D	0.95458	0.8540	10	0.72032	D	0.01	.	12.0944	0.53747	0.0797:0.0:0.9203:0.0	.	850	Q5VWN6	F208B_HUMAN	N	850	ENSP00000328426:D850N	ENSP00000328426:D850N	D	+	1	0	C10orf18	5824286	0.529000	0.26322	0.992000	0.48379	0.058000	0.15608	3.162000	0.50755	2.694000	0.91930	0.655000	0.94253	GAC		0.428	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		120	526	0	0	0	1	0	120	526				
URGCP	55665	broad.mit.edu	37	7	43917061	43917061	+	Silent	SNP	C	C	T	rs369206269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43917061C>T	ENST00000453200.1	-	6	2494	c.2001G>A	c.(1999-2001)acG>acA	p.T667T	URGCP_ENST00000443736.1_Silent_p.T624T|URGCP_ENST00000223341.7_Silent_p.T624T|URGCP_ENST00000336086.6_Silent_p.T624T|URGCP_ENST00000402306.3_Silent_p.T658T|URGCP_ENST00000447717.3_Silent_p.T624T|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	667					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATGCTCAGCGTGCTCCCAT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.0		0.0	False		,,,				2504	0.001					ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1870-1872)acG>acA		upregulator of cell proliferation		C	,,,	0,4260		0,0,2130	28.0	32.0	31.0		2001,1872,,1974	-1.0	0.3	7		31	2,8462		0,2,4230	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	URGCP,URGCP-MRPS24	NM_001077663.1,NM_001077664.1,NM_001204871.1,NM_017920.3	,,,	0,2,6360	TT,TC,CC		0.0236,0.0,0.0157	,,,	667/932,624/889,,658/923	43917061	2,12722	2130	4232	6362	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917061C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2001G>A	7.37:g.43917061C>T						URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Silent_p.T624T|URGCP_ENST00000447717.3_Silent_p.T624T|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Silent_p.T658T|URGCP_ENST00000443736.1_Silent_p.T624T|URGCP_ENST00000453200.1_Silent_p.T667T	p.T624T			Q8TCY9	URGCP_HUMAN			4	4108	-			667					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.1872G>A	CCDS47578.1																																																																																				0.657	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		46	207	0	0	0	1	0	46	207				
SEZ6	124925	broad.mit.edu	37	17	27283229	27283229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27283229T>C	ENST00000317338.12	-	16	3328	c.2900A>G	c.(2899-2901)tAc>tGc	p.Y967C	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.L499L|SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C|SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	967					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AATGCGGTTGTAggggcgggg	0.577																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2899-2901)tAc>tGc		seizure related 6 homolog (mouse)							19.0	21.0	20.0					17																	27283229		2116	4245	6361	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27283229T>C	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2900A>G	17.37:g.27283229T>C	ENSP00000312942:p.Tyr967Cys					SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C|SEZ6_ENST00000335960.6_Silent_p.L499L|SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C|PIPOX_ENST00000583215.1_Intron	p.Y967C			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		16	3328	-	Lung NSC(42;0.0137)		967					B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2900A>G	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177799	0.57692	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.42131	0.98	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.905	T	0.71702	-0.4513	10	0.87932	D	0	.	14.3395	0.66617	0.0:0.0:0.0:1.0	.	967;967	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	C	967;967;842;84	ENSP00000353440:Y967C	ENSP00000312942:Y842C	Y	-	2	0	SEZ6	24307355	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	4.466000	0.60148	2.055000	0.61198	0.402000	0.26972	TAC		0.577	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			19	67	0	0	0	1	0	19	67				
ZNF407	55628	broad.mit.edu	37	18	72353033	72353033	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72353033T>C	ENST00000299687.5	+	2	4757	c.4757T>C	c.(4756-4758)gTg>gCg	p.V1586A	ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A|ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAACCATGTGAAAAGGCAC	0.423																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4756-4758)gTg>gCg		zinc finger protein 407							204.0	199.0	201.0					18																	72353033		2000	4181	6181	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72353033T>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4757T>C	18.37:g.72353033T>C	ENSP00000299687:p.Val1586Ala					ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A	p.V1586A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	2	4757	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1586					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4757T>C	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734815	0.69189	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.60672	0.17;2.42	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.68016	0.2955	L	0.42744	1.35	0.36137	D	0.846519	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.67019	-0.5776	10	0.22109	T	0.4	.	15.1811	0.72960	0.0:0.0:0.0:1.0	.	1586;1586;1586	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	A	1586	ENSP00000299687:V1586A;ENSP00000310359:V1586A	ENSP00000299687:V1586A	V	+	2	0	ZNF407	70482021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	0.240000	0.21263	0.655000	0.94253	GTG		0.423	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		140	525	0	0	0	1	0	140	525				
FILIP1	27145	broad.mit.edu	37	6	76022516	76022516	+	Missense_Mutation	SNP	G	G	A	rs201450409		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022516G>A	ENST00000237172.7	-	5	3362	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M|FILIP1_ENST00000393004.2_Missense_Mutation_p.T1011M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1011										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTAGACACCGTCATTATCTG	0.493																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3031-3033)aCg>aTg		filamin A interacting protein 1							133.0	130.0	131.0					6																	76022516		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022516G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3032C>T	6.37:g.76022516G>A	ENSP00000237172:p.Thr1011Met					FILIP1_ENST00000237172.7_Missense_Mutation_p.T1011M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M	p.T1011M			Q7Z7B0	FLIP1_HUMAN			5	3253	-			1011					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3032C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887244	0.91814	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21734	1.99;2.0;2.01	6.03	6.03	0.97812	.	0.045131	0.85682	D	0.000000	T	0.34716	0.0907	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.926;0.95;0.977	T	0.01159	-1.1433	10	0.51188	T	0.08	-22.8688	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1011;1011;1011	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	1011;1011;912	ENSP00000376728:T1011M;ENSP00000237172:T1011M;ENSP00000359037:T912M	ENSP00000237172:T1011M	T	-	2	0	FILIP1	76079236	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.231000	0.95317	2.861000	0.98227	0.655000	0.94253	ACG		0.493	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		77	653	0	0	0	1	0	77	653				
CSNK1A1L	122011	broad.mit.edu	37	13	37678964	37678964	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37678964T>C	ENST00000379800.3	-	1	839	c.430A>G	c.(430-432)Atg>Gtg	p.M144V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGTACCCATCAGGAAGTTA	0.408																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(430-432)Atg>Gtg		casein kinase 1, alpha 1-like							200.0	183.0	189.0					13																	37678964		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678964T>C	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.430A>G	13.37:g.37678964T>C	ENSP00000369126:p.Met144Val						p.M144V	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	839	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	144			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.430A>G	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544521	0.45280	.	.	ENSG00000180138	ENST00000379800	T	0.62232	0.04	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084250	0.85682	D	0.000000	T	0.61311	0.2337	M	0.64080	1.96	0.42120	D	0.991423	P	0.51147	0.942	P	0.50109	0.631	T	0.62286	-0.6886	10	0.72032	D	0.01	.	6.2671	0.20932	0.0:0.0:0.0:1.0	.	144	Q8N752	KC1AL_HUMAN	V	144	ENSP00000369126:M144V	ENSP00000369126:M144V	M	-	1	0	CSNK1A1L	36576964	1.000000	0.71417	0.980000	0.43619	0.882000	0.50991	5.518000	0.67068	0.725000	0.32318	0.459000	0.35465	ATG		0.408	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		97	478	0	0	0	1	0	97	478				
GDF10	2662	broad.mit.edu	37	10	48429256	48429256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48429256G>A	ENST00000224605.2	-	2	895	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	210					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGCCGCCTTGACGATGGGGG	0.726																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(628-630)gtC>gtT		growth differentiation factor 10							9.0	14.0	12.0					10																	48429256		2144	4237	6381	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429256G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.630C>T	10.37:g.48429256G>A							p.V210V	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	895	-			210					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.630C>T	CCDS7220.1																																																																																				0.726	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		45	156	0	0	0	1	0	45	156				
PCDHB8	56128	broad.mit.edu	37	5	140558931	140558931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558931C>T	ENST00000239444.2	+	1	1561	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAATATGACCGTGCTGGTG	0.567																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1315-1317)aCc>aTc									197.0	246.0	230.0					5																	140558931		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558931C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1316C>T	5.37:g.140558931C>T	ENSP00000239444:p.Thr439Ile						p.T439I	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1561	+			439			Cadherin 4.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1316C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	3.226	-0.158381	0.06544	.	.	ENSG00000120322	ENST00000239444	T	0.03358	3.96	4.26	3.39	0.38822	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06781	0.0173	M	0.64630	1.985	0.09310	N	1	B	0.24618	0.107	B	0.36922	0.236	T	0.36359	-0.9751	9	0.56958	D	0.05	.	4.0224	0.09672	0.1624:0.5888:0.158:0.0907	.	439	Q9UN66	PCDB8_HUMAN	I	439	ENSP00000239444:T439I	ENSP00000239444:T439I	T	+	2	0	PCDHB8	140539115	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-1.353000	0.02617	0.778000	0.33520	0.305000	0.20034	ACC		0.567	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		168	1741	0	0	0	1	0	168	1741				
FAM154A	158297	broad.mit.edu	37	9	18928781	18928781	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18928781T>G	ENST00000380534.4	-	4	973	c.694A>C	c.(694-696)Atc>Ctc	p.I232L	FAM154A_ENST00000542071.1_Missense_Mutation_p.I40L|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	232										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCAAAGGGGATTTCACAGGGC	0.542																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(694-696)Atc>Ctc		family with sequence similarity 154, member A							88.0	92.0	91.0					9																	18928781		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928781T>G	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.694A>C	9.37:g.18928781T>G	ENSP00000369907:p.Ile232Leu					FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.I40L	p.I232L	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	973	-			232					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.694A>C	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	T	5.696	0.313041	0.10789	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.15017	2.46;2.46	5.09	2.75	0.32379	.	0.105301	0.42682	D	0.000674	T	0.12987	0.0315	M	0.63428	1.95	0.24741	N	0.993039	B	0.31153	0.31	B	0.30105	0.111	T	0.27739	-1.0065	10	0.08381	T	0.77	-11.714	4.3515	0.11158	0.0:0.254:0.163:0.583	.	232	Q8IYX7	F154A_HUMAN	L	232;40	ENSP00000369907:I232L;ENSP00000438823:I40L	ENSP00000369907:I232L	I	-	1	0	FAM154A	18918781	0.000000	0.05858	0.978000	0.43139	0.912000	0.54170	-0.297000	0.08276	0.408000	0.25621	-0.256000	0.11100	ATC		0.542	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		11	377	0	0	0	1	0	11	377				
FSCB	84075	broad.mit.edu	37	14	44974963	44974963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974963C>T	ENST00000340446.4	-	1	1519	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	410	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACTTTAGCTGGGGCCTCT	0.512																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1228-1230)Gct>Act		fibrous sheath CABYR binding protein							38.0	42.0	41.0					14																	44974963		2197	4296	6493	SO:0001583	missense	84075					cilium		g.chr14:44974963C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1228G>A	14.37:g.44974963C>T	ENSP00000344579:p.Ala410Thr						p.A410T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1519	-			410			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1228G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709338	0.30322	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13420	2.59	4.49	-2.33	0.06724	.	.	.	.	.	T	0.08537	0.0212	L	0.43152	1.355	0.09310	N	1	B	0.20052	0.041	B	0.22880	0.042	T	0.43877	-0.9364	9	0.14656	T	0.56	-0.4729	2.0042	0.03474	0.1257:0.4363:0.1229:0.3152	.	410	Q5H9T9	FSCB_HUMAN	T	410	ENSP00000344579:A410T	ENSP00000344579:A410T	A	-	1	0	FSCB	44044713	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.358000	0.02604	-0.620000	0.05641	0.655000	0.94253	GCT		0.512	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		45	263	0	0	0	1	0	45	263				
PDGFC	56034	broad.mit.edu	37	4	157891977	157891977	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157891977T>C	ENST00000502773.1	-	1	569	c.79A>G	c.(79-81)Agt>Ggt	p.S27G	PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	27					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AATTTACTACTCAGGTTGGAT	0.542											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(79-81)Agt>Ggt		platelet derived growth factor C							121.0	124.0	123.0					4																	157891977		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157891977T>C	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.79A>G	4.37:g.157891977T>C	ENSP00000422464:p.Ser27Gly		OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1789	PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G	p.S27G	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	1	569	-	all_hematologic(180;0.24)	Renal(120;0.0458)	27					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.79A>G	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	T	4.883	0.164081	0.09287	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.15952	2.44;2.38	5.12	3.94	0.45596	.	0.000000	0.64402	D	0.000006	T	0.14056	0.0340	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.03807	-1.1002	10	0.87932	D	0	-15.015	10.526	0.44950	0.0:0.076:0.0:0.924	.	27	Q9NRA1	PDGFC_HUMAN	G	27	ENSP00000422464:S27G;ENSP00000410048:S27G	ENSP00000274071:S27G	S	-	1	0	PDGFC	158111427	1.000000	0.71417	0.944000	0.38274	0.010000	0.07245	3.812000	0.55628	0.805000	0.34159	0.377000	0.23210	AGT		0.542	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			69	299	0	0	0	1	0	69	299				
FAT2	2196	broad.mit.edu	37	5	150887020	150887020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150887020C>T	ENST00000261800.5	-	22	12224	c.12212G>A	c.(12211-12213)cGc>cAc	p.R4071H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4071					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCAACGGCGGCAGTAGAA	0.577																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12211-12213)cGc>cAc		FAT atypical cadherin 2							66.0	70.0	69.0					5																	150887020		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150887020C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12212G>A	5.37:g.150887020C>T	ENSP00000261800:p.Arg4071His						p.R4071H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	12224	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4071					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.12212G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513696	0.44763	.	.	ENSG00000086570	ENST00000261800	T	0.74002	-0.8	5.6	4.54	0.55810	Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000020	T	0.63510	0.2517	L	0.39147	1.195	0.39358	D	0.965872	B;B	0.19935	0.032;0.04	B;B	0.08055	0.003;0.003	T	0.59397	-0.7462	10	0.23891	T	0.37	.	12.5214	0.56060	0.0:0.863:0.0:0.137	.	4071;1176	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	4071	ENSP00000261800:R4071H	ENSP00000261800:R4071H	R	-	2	0	FAT2	150867213	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.285000	0.18883	2.636000	0.89361	0.655000	0.94253	CGC		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		79	375	0	0	0	1	0	79	375				
EPC1	80314	broad.mit.edu	37	10	32560500	32560500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560500G>T	ENST00000263062.8	-	14	2689	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y|EPC1_ENST00000319778.6_Missense_Mutation_p.S784Y|RP11-166N17.1_ENST00000415731.2_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	807					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGAATCTACAGAGGATGAAGA	0.428																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(2350-2352)tCt>tAt		enhancer of polycomb homolog 1 (Drosophila)							117.0	113.0	114.0					10																	32560500		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32560500G>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2420C>A	10.37:g.32560500G>T	ENSP00000263062:p.Ser807Tyr					EPC1_ENST00000263062.8_Missense_Mutation_p.S807Y|EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y	p.S784Y	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			13	2653	-		Prostate(175;0.0199)	807					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.2351C>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.277662	0.59758	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	4.79	4.79	0.61399	.	0.370006	0.31290	N	0.007906	T	0.61714	0.2369	L	0.40543	1.245	0.33429	D	0.580917	D;D;P	0.61080	0.987;0.989;0.956	P;P;P	0.58391	0.838;0.655;0.828	T	0.73445	-0.3980	9	0.87932	D	0	-2.4986	17.8998	0.88900	0.0:0.0:1.0:0.0	.	734;784;807	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	Y	734;784;807	.	ENSP00000263062:S807Y	S	-	2	0	EPC1	32600506	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	6.040000	0.70980	2.214000	0.71695	0.299000	0.19835	TCT		0.428	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			144	649	1	0	2.39625e-65	1	3.03e-65	144	649				
CTR9	9646	broad.mit.edu	37	11	10772966	10772966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10772966C>T	ENST00000361367.2	+	1	433	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	3					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATCATGTCGCGGGGCTCCAT	0.632																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(7-9)Cgg>Tgg		CTR9, Paf1/RNA polymerase II complex component							44.0	44.0	44.0					11																	10772966		2200	4294	6494	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10772966C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.7C>T	11.37:g.10772966C>T	ENSP00000355013:p.Arg3Trp						p.R3W	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	1	433	+			3					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.7C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	37	6.108579	0.97291	.	.	ENSG00000198730	ENST00000361367	T	0.48201	0.82	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	N	0.08118	0	0.80722	D	1	D	0.56287	0.975	B	0.39876	0.312	T	0.36890	-0.9729	10	0.72032	D	0.01	-13.286	18.1653	0.89723	0.0:1.0:0.0:0.0	.	3	Q6PD62	CTR9_HUMAN	W	3	ENSP00000355013:R3W	ENSP00000355013:R3W	R	+	1	2	CTR9	10729542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.805000	0.96524	0.650000	0.86243	CGG		0.632	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		35	136	0	0	0	1	0	35	136				
SGCA	6442	broad.mit.edu	37	17	48252742	48252742	+	Missense_Mutation	SNP	C	C	T	rs368243053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48252742C>T	ENST00000262018.3	+	9	1144	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Missense_Mutation_p.R246W|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACAGGTGAGCGGCTGCCTCC	0.652																																						ENST00000262018.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						c.(1108-1110)Cgg>Tgg		sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	35.0	32.0	33.0		1108,736	3.6	1.0	17		33	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SGCA	NM_000023.2,NM_001135697.1	101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	370/388,246/264	48252742	1,13003	2203	4299	6502	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48252742C>T	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.1108C>T	17.37:g.48252742C>T	ENSP00000262018:p.Arg370Trp					SGCA_ENST00000543315.1_Missense_Mutation_p.R246W|SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000513942.1_3'UTR	p.R370W	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN			9	1144	+			370					A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.1108C>T	CCDS32679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.17|14.17	2.454366|2.454366	0.43634|0.43634	0.0|0.0	1.16E-4|1.16E-4	ENSG00000108823|ENSG00000108823	ENST00000504073|ENST00000344627;ENST00000262018;ENST00000543315	.|D;D;D	.|0.98192	.|-4.78;-4.78;-4.78	4.63|4.63	3.57|3.57	0.40892|0.40892	.|.	.|0.131881	.|0.46145	.|D	.|0.000315	D|D	0.97620|0.97620	0.9220|0.9220	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.56916	.|0.809;0.786	D|D	0.96109|0.96109	0.9075|0.9075	5|10	.|0.37606	.|T	.|0.19	-25.8703|-25.8703	10.1205|10.1205	0.42618|0.42618	0.3714:0.6285:0.0:0.0|0.3714:0.6285:0.0:0.0	.|.	.|246;370	.|Q16586-2;Q16586	.|.;SGCA_HUMAN	V|W	142|246;370;246	.|ENSP00000345522:R246W;ENSP00000262018:R370W;ENSP00000444539:R246W	.|ENSP00000262018:R370W	A|R	+|+	2|1	0|2	SGCA|SGCA	45607741|45607741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	1.386000|1.386000	0.34419|0.34419	2.279000|2.279000	0.76181|0.76181	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.652	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		32	140	0	0	0	1	0	32	140				
TRIM6	117854	broad.mit.edu	37	11	5626734	5626734	+	Silent	SNP	G	G	A	rs564295328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5626734G>A	ENST00000278302.5	+	4	827	c.687G>A	c.(685-687)tcG>tcA	p.S229S	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Silent_p.S54S|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000380107.1_Silent_p.S203S|TRIM6_ENST00000506134.1_Silent_p.S54S|TRIM6_ENST00000515022.1_Silent_p.S54S|TRIM6_ENST00000380097.3_Silent_p.S257S|TRIM6_ENST00000507320.1_Silent_p.S54S	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	229					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACCCAGTCGCTGCGAGAGC	0.537											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0008	0.0	5008	,	,		18146	0.0		0.0	False		,,,				2504	0.0					ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(769-771)tcG>tcA		tripartite motif containing 6							74.0	70.0	71.0					11																	5626734		2201	4297	6498	SO:0001819	synonymous_variant	117854							g.chr11:5626734G>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.687G>A	11.37:g.5626734G>A			OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	627	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380107.1_Silent_p.S203S|TRIM6_ENST00000445329.1_Silent_p.S54S|TRIM6_ENST00000515022.1_Silent_p.S54S|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000278302.5_Silent_p.S229S|TRIM6_ENST00000506134.1_Silent_p.S54S|TRIM6_ENST00000507320.1_Silent_p.S54S	p.S257S	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	1013	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	c.771G>A	CCDS31390.1																																																																																				0.537	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		50	210	0	0	0	1	0	50	210				
RADIL	55698	broad.mit.edu	37	7	4874821	4874821	+	Missense_Mutation	SNP	C	C	T	rs528259551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874821C>T	ENST00000399583.3	-	4	1020	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q|RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	278					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGAGGGGGTCCGCTGGCCCAC	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11326	0.0		0.0	False		,,,				2504	0.0					ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(832-834)cGg>cAg		Ras association and DIL domains							18.0	26.0	24.0					7																	4874821		2174	4248	6422	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874821C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.833G>A	7.37:g.4874821C>T	ENSP00000382492:p.Arg278Gln					RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q|RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q	p.R278Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1020	-		Ovarian(82;0.0175)	278					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.833G>A	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.94|11.94	1.789670|1.789670	0.31685|0.31685	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000544486|ENST00000399583;ENST00000536091;ENST00000538469	.|T;T;T	.|0.06768	.|3.26;3.26;3.26	4.75|4.75	3.87|3.87	0.44632|0.44632	.|Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.|0.678925	.|0.14484	.|N	.|0.316794	T|T	0.14313|0.14313	0.0346|0.0346	L|L	0.60455|0.60455	1.87|1.87	0.31687|0.31687	N|N	0.642347|0.642347	.|D	.|0.63046	.|0.992	.|P	.|0.50570	.|0.644	T|T	0.07731|0.07731	-1.0757|-1.0757	6|10	0.59425|0.27082	D|T	0.04|0.32	-7.1694|-7.1694	10.5807|10.5807	0.45255|0.45255	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	.|278	.|Q96JH8	.|RADIL_HUMAN	R|Q	13|278;278;38	.|ENSP00000382492:R278Q;ENSP00000442533:R278Q;ENSP00000442966:R38Q	ENSP00000437686:G13R|ENSP00000382492:R278Q	G|R	-|-	1|2	0|0	RADIL|RADIL	4841347|4841347	1.000000|1.000000	0.71417|0.71417	0.840000|0.840000	0.33206|0.33206	0.172000|0.172000	0.22775|0.22775	3.422000|3.422000	0.52749|0.52749	1.017000|1.017000	0.39495|0.39495	-0.119000|-0.119000	0.15052|0.15052	GGA|CGG		0.677	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		22	111	0	0	0	1	0	22	111				
KCNJ15	3772	broad.mit.edu	37	21	39671643	39671643	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39671643A>T	ENST00000328656.4	+	4	763	c.460A>T	c.(460-462)Acc>Tcc	p.T154S	KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398930.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	154					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GGTCATCACGACCTTGATTGA	0.512																																						ENST00000398930.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(460-462)Acc>Tcc		potassium inwardly-rectifying channel, subfamily J, member 15							89.0	84.0	86.0					21																	39671643		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671643A>T	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.460A>T	21.37:g.39671643A>T	ENSP00000331698:p.Thr154Ser					KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000328656.3_Missense_Mutation_p.T154S	p.T154S			Q99712	IRK15_HUMAN			4	814	+			154					D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.460A>T	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534235	0.45073	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927	D;D;D;D;D;D;D;D	0.95885	-3.84;-3.26;-3.84;-3.84;-3.84;-3.84;-3.84;-3.26	5.83	5.83	0.93111	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.113444	0.64402	D	0.000014	D	0.92967	0.7762	N	0.16266	0.395	0.44188	D	0.997006	P	0.46621	0.881	P	0.50192	0.634	D	0.92329	0.5872	9	.	.	.	.	16.2127	0.82178	1.0:0.0:0.0:0.0	.	154	Q99712	IRK15_HUMAN	S	154	ENSP00000331698:T154S;ENSP00000381902:T154S;ENSP00000381911:T154S;ENSP00000381905:T154S;ENSP00000414487:T154S;ENSP00000381904:T154S;ENSP00000381907:T154S;ENSP00000381901:T154S	.	T	+	1	0	KCNJ15	38593513	0.989000	0.36119	0.897000	0.35233	0.453000	0.32348	4.842000	0.62831	2.236000	0.73375	0.533000	0.62120	ACC		0.512	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		81	270	0	0	0	1	0	81	270				
CCDC88A	55704	broad.mit.edu	37	2	55589552	55589552	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55589552C>T	ENST00000436346.1	-	7	1360	c.519G>A	c.(517-519)ctG>ctA	p.L173L	CCDC88A_ENST00000413716.2_Silent_p.L173L|CCDC88A_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000263630.8_Silent_p.L173L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	173					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCATCCATTGCAGGTCAAACA	0.343																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(517-519)ctG>ctA		coiled-coil domain containing 88A							103.0	97.0	99.0					2																	55589552		2203	4300	6503	SO:0001819	synonymous_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55589552C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.519G>A	2.37:g.55589552C>T						CCDC88A_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000263630.8_Silent_p.L173L|CCDC88A_ENST00000413716.2_Silent_p.L173L	p.L173L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			7	1360	-			173					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37	c.519G>A																																																																																					0.343	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		36	130	0	0	0	1	0	36	130				
OR1J2	26740	broad.mit.edu	37	9	125273896	125273896	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125273896C>A	ENST00000335302.5	+	1	816	c.816C>A	c.(814-816)gtC>gtA	p.V272V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAGGATGTCATTGTGGCTC	0.478																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(814-816)gtC>gtA		olfactory receptor, family 1, subfamily J, member 2							195.0	175.0	182.0					9																	125273896		2203	4300	6503	SO:0001819	synonymous_variant	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273896C>A		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.816C>A	9.37:g.125273896C>A							p.V272V	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	816	+			272					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	37	c.816C>A	CCDS35121.1																																																																																				0.478	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			110	639	1	0	1.39691e-52	1	1.73782e-52	110	639				
GABRA5	2558	broad.mit.edu	37	15	27185073	27185073	+	Splice_Site	SNP	C	C	T	rs369568018	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185073C>T	ENST00000335625.5	+	9	1614	c.726C>T	c.(724-726)ggC>ggT	p.G242G	GABRA5_ENST00000400081.3_Splice_Site_p.G242G|GABRA5_ENST00000355395.5_Splice_Site_p.G242G|GABRB3_ENST00000541819.2_5'Flank	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	242					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TATTTGCAGGCGAATACACAA	0.493													C|||	3	0.000599042	0.0	0.0	5008	,	,		20182	0.003		0.0	False		,,,				2504	0.0					ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.e9-1		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						133.0	130.0	131.0					15																	27185073		1999	4185	6184	SO:0001630	splice_region_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185073C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-1C>T	15.37:g.27185073C>T						GABRA5_ENST00000400081.3_Splice_Site_p.G242_splice|GABRA5_ENST00000355395.5_Splice_Site_p.G242_splice	p.G242_splice	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	9	1614	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	242					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Splice_Site	SNP	ENST00000335625.5	37	c.724_splice	CCDS45194.1																																																																																				0.493	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		Silent	39	184	0	0	0	1	0	39	184				
ARAP3	64411	broad.mit.edu	37	5	141059951	141059951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059951C>T	ENST00000239440.4	-	2	168	c.103G>A	c.(103-105)Gca>Aca	p.A35T	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	35	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCGGGCTGCACCTGCTGTA	0.647																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(103-105)Gca>Aca		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							53.0	52.0	52.0					5																	141059951		2203	4299	6502	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059951C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.103G>A	5.37:g.141059951C>T	ENSP00000239440:p.Ala35Thr					ARAP3_ENST00000508305.1_5'UTR	p.A35T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			2	168	-			35			SAM.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.103G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652939	0.88056	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;T	0.85702	-2.02;-0.02	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.080522	0.47093	D	0.000241	D	0.86464	0.5939	L	0.41356	1.27	0.80722	D	1	P	0.51791	0.948	P	0.57371	0.819	D	0.87025	0.2131	10	0.52906	T	0.07	.	13.7861	0.63110	0.0:1.0:0.0:0.0	.	35	Q8WWN8	ARAP3_HUMAN	T	35	ENSP00000239440:A35T;ENSP00000421148:A35T	ENSP00000239440:A35T	A	-	1	0	ARAP3	141040135	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.638000	0.54332	2.272000	0.75746	0.462000	0.41574	GCA		0.647	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		69	296	0	0	0	1	0	69	296				
ALG5	29880	broad.mit.edu	37	13	37573380	37573380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37573380G>A	ENST00000239891.3	-	1	124	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	ALG5_ENST00000496689.1_Intron|ALG5_ENST00000443765.1_Missense_Mutation_p.L20F|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|EXOSC8_ENST00000389704.3_5'Flank	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	20					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ACCAGTACGAGGGCTGCGGCC	0.701																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(58-60)Ctc>Ttc		ALG5, dolichyl-phosphate beta-glucosyltransferase							17.0	21.0	20.0					13																	37573380		2187	4284	6471	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37573380G>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.58C>T	13.37:g.37573380G>A	ENSP00000239891:p.Leu20Phe					EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|ALG5_ENST00000443765.1_Missense_Mutation_p.L20F|ALG5_ENST00000496689.1_Intron	p.L20F	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	1	124	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	20					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.58C>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	g	9.080	0.998965	0.19121	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.83992	-1.79;-1.21	5.22	3.48	0.39840	.	0.248451	0.33753	N	0.004583	D	0.84808	0.5554	L	0.49640	1.575	0.45403	D	0.998389	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.80491	-0.1359	10	0.10636	T	0.68	.	8.6488	0.34022	0.0816:0.1539:0.7646:0.0	.	20;20	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	F	20	ENSP00000239891:L20F;ENSP00000389647:L20F	ENSP00000239891:L20F	L	-	1	0	ALG5	36471380	0.197000	0.23362	0.025000	0.17156	0.007000	0.05969	0.743000	0.26231	1.201000	0.43203	-0.215000	0.12644	CTC		0.701	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		27	164	0	0	0	1	0	27	164				
TXNDC2	84203	broad.mit.edu	37	18	9888089	9888089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9888089G>A	ENST00000306084.6	+	2	1812	c.1613G>A	c.(1612-1614)tGc>tAc	p.C538Y	TXNDC2_ENST00000357775.5_Missense_Mutation_p.C471Y|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	538	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GATGAACTTTGCGGCGCCCTT	0.418																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1612-1614)tGc>tAc		thioredoxin domain containing 2 (spermatozoa)							34.0	36.0	35.0					18																	9888089		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9888089G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1613G>A	18.37:g.9888089G>A	ENSP00000304908:p.Cys538Tyr					TXNDC2_ENST00000357775.4_Missense_Mutation_p.C471Y|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR	p.C538Y	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1812	+			538			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1613G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325117	0.24080	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.13420	2.59;2.59	3.92	0.99	0.19807	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.609210	0.17247	N	0.181337	T	0.14830	0.0358	N	0.08118	0	0.47009	D	0.999282	D	0.71674	0.998	D	0.68943	0.961	T	0.06752	-1.0809	9	.	.	.	-0.0356	11.862	0.52471	0.0:0.595:0.405:0.0	.	538	Q86VQ3	TXND2_HUMAN	Y	336;471;538;523	ENSP00000350419:C471Y;ENSP00000304908:C538Y	.	C	+	2	0	TXNDC2	9878089	0.872000	0.30054	0.681000	0.30009	0.169000	0.22640	0.403000	0.20982	0.193000	0.20303	-0.310000	0.09108	TGC		0.418	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			23	133	0	0	0	1	0	23	133				
RS1	6247	broad.mit.edu	37	X	18662597	18662597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18662597C>A	ENST00000379984.3	-	5	515	c.475G>T	c.(475-477)Gag>Tag	p.E159*	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	159	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.E159K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TTCAGGCGCTCATCGGTCCTG	0.527																																						ENST00000379984.3																			1	Substitution - Missense(1)	p.E159K(1)	skin(1)	cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(475-477)Gag>Tag		retinoschisin 1							180.0	137.0	151.0					X																	18662597		2203	4300	6503	SO:0001587	stop_gained	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18662597C>A	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.475G>T	X.37:g.18662597C>A	ENSP00000369320:p.Glu159*					RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	p.E159*	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			5	515	-	Hepatocellular(33;0.183)		159			F5/8 type C.		Q0QD39	Nonsense_Mutation	SNP	ENST00000379984.3	37	c.475G>T	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	c	36	5.821973	0.96989	.	.	ENSG00000102104	ENST00000379984	.	.	.	4.91	4.91	0.64330	.	0.136484	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.5225	0.87791	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000369320:E159X	E	-	1	0	RS1	18572518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.275000	0.78548	2.410000	0.81850	0.591000	0.81541	GAG		0.527	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			127	425	1	0	6.61771e-47	1	8.13826e-47	127	425				
NDUFB5	4711	broad.mit.edu	37	3	179336307	179336307	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179336307A>G	ENST00000259037.3	+	5	561	c.447A>G	c.(445-447)ttA>ttG	p.L149L	NDUFB5_ENST00000472629.1_Silent_p.L137L|NDUFB5_ENST00000493866.1_Silent_p.L97L|NDUFB5_ENST00000473500.1_3'UTR	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	149					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			AGGCTGAATTACGGTAGGAAA	0.378																																						ENST00000493866.1																			0				endometrium(1)|lung(6)|skin(1)	8						c.(289-291)ttA>ttG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						55.0	56.0	56.0					3																	179336307		2203	4300	6503	SO:0001819	synonymous_variant	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179336307A>G	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.447A>G	3.37:g.179336307A>G						NDUFB5_ENST00000259037.3_Silent_p.L149L|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.L137L	p.L97L	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		3	316	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		149					Q561V6	Silent	SNP	ENST00000259037.3	37	c.291A>G	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557860	0.45590	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.97	4.84	0.62591	.	.	.	.	.	T	0.54159	0.1841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53711	-0.8400	4	.	.	.	-13.992	5.3624	0.16095	0.7091:0.1802:0.1107:0.0	.	.	.	.	C	166	.	.	Y	+	2	0	NDUFB5	180819001	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.831000	0.39141	2.284000	0.76573	0.523000	0.50628	TAC		0.378	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		29	130	0	0	0	1	0	29	130				
DOCK4	9732	broad.mit.edu	37	7	111484842	111484842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111484842G>A	ENST00000437633.1	-	25	2969	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	DOCK4_ENST00000428084.1_Missense_Mutation_p.R905W	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	905					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AACTGGAACCGCATTGCTGAG	0.512																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2713-2715)Cgg>Tgg		dedicator of cytokinesis 4							160.0	158.0	159.0					7																	111484842		2049	4201	6250	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111484842G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2713C>T	7.37:g.111484842G>A	ENSP00000404179:p.Arg905Trp					DOCK4_ENST00000437633.1_Missense_Mutation_p.R905W	p.R905W			Q8N1I0	DOCK4_HUMAN			25	2985	-		Acute lymphoblastic leukemia(1;0.0441)	905					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2713C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086388	0.76642	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.72505	-0.66;-0.66	6.12	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68765	0.96;0.735;0.784	D	0.84261	0.0483	10	0.62326	D	0.03	.	16.8359	0.85957	0.0:0.0:0.5766:0.4234	.	905;905;905	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	W	893;905;905;893;904	ENSP00000410746:R905W;ENSP00000404179:R905W	ENSP00000345432:R893W	R	-	1	2	DOCK4	111272078	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.935000	0.40173	0.871000	0.35750	0.644000	0.83932	CGG		0.512	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		79	441	0	0	0	1	0	79	441				
S1PR4	8698	broad.mit.edu	37	19	3179636	3179636	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3179636C>T	ENST00000246115.3	+	1	901	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	282					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ACCTCTGGGCCCAGGAGTACC	0.642																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(844-846)gcC>gcT		sphingosine-1-phosphate receptor 4							76.0	76.0	76.0					19																	3179636		2203	4300	6503	SO:0001819	synonymous_variant	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179636C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.846C>T	19.37:g.3179636C>T							p.A282A	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	901	+			282					D6W612	Silent	SNP	ENST00000246115.3	37	c.846C>T	CCDS12105.1																																																																																				0.642	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		74	709	0	0	0	1	0	74	709				
DNAH9	1770	broad.mit.edu	37	17	11757669	11757669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11757669G>A	ENST00000262442.4	+	50	9925	c.9857G>A	c.(9856-9858)cGc>cAc	p.R3286H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3286H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3286	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCCAAGCGCCAGGCACTG	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9856-9858)cGc>cAc		dynein, axonemal, heavy chain 9							71.0	73.0	73.0					17																	11757669		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757669G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9857G>A	17.37:g.11757669G>A	ENSP00000262442:p.Arg3286His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R3286H	p.R3286H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9925	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3286			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9857G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813593	0.70912	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80994	-1.44;-1.44	5.44	5.44	0.79542	Dynein heavy chain, coiled coil stalk (1);	0.239323	0.41097	D	0.000942	D	0.94248	0.8153	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95977	0.8974	10	0.87932	D	0	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	3286	Q9NYC9	DYH9_HUMAN	H	3286;3286;1868	ENSP00000262442:R3286H;ENSP00000414874:R3286H	ENSP00000262442:R3286H	R	+	2	0	DNAH9	11698394	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	7.384000	0.79751	2.828000	0.97474	0.655000	0.94253	CGC		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		114	478	0	0	0	1	0	114	478				
SPG20	23111	broad.mit.edu	37	13	36878745	36878745	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878745A>G	ENST00000451493.1	-	9	1975	c.1758T>C	c.(1756-1758)gcT>gcC	p.A586A	SPG20_ENST00000494062.2_Silent_p.A586A|SPG20_ENST00000355182.4_Silent_p.A586A|SPG20_ENST00000438666.2_Silent_p.A586A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	586					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CATGGTGGGTAGCTTCTCCTG	0.343																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1756-1758)gcT>gcC		spastic paraplegia 20 (Troyer syndrome)							110.0	95.0	100.0					13																	36878745		2203	4300	6503	SO:0001819	synonymous_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36878745A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1758T>C	13.37:g.36878745A>G						SPG20_ENST00000438666.2_Silent_p.A586A|SPG20_ENST00000494062.2_Silent_p.A586A|SPG20_ENST00000355182.4_Silent_p.A586A	p.A586A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	9	1975	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	586					O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	c.1758T>C	CCDS9356.1																																																																																				0.343	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			50	205	0	0	0	1	0	50	205				
GABRB3	2562	broad.mit.edu	37	15	26806166	26806166	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26806166G>T	ENST00000311550.5	-	8	1104	c.993C>A	c.(991-993)ttC>ttA	p.F331L	GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L|GABRB3_ENST00000541819.2_Missense_Mutation_p.F387L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	331					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCTTCCAAAGAAAATGTAGT	0.483																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1159-1161)ttC>ttA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						139.0	145.0	143.0					15																	26806166		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806166G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.993C>A	15.37:g.26806166G>T	ENSP00000308725:p.Phe331Leu					GABRB3_ENST00000311550.5_Missense_Mutation_p.F331L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L	p.F387L			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1263	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	331					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1161C>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226466	0.79576	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.19	3.28	0.37604	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.55743	1.74	0.80722	D	1	P;P;P	0.46457	0.878;0.717;0.76	B;B;B	0.42245	0.381;0.187;0.378	T	0.82271	-0.0540	10	0.62326	D	0.03	.	11.1972	0.48719	0.1517:0.0:0.8483:0.0	.	387;331;331	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	331;387;331;260;246	ENSP00000308725:F331L;ENSP00000442408:F387L;ENSP00000299267:F331L;ENSP00000383049:F260L;ENSP00000439169:F246L	ENSP00000299267:F331L	F	-	3	2	GABRB3	24357259	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.896000	0.56266	1.174000	0.42811	0.655000	0.94253	TTC		0.483	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			89	438	1	0	2.84431e-33	1	3.36965e-33	89	438				
DPRX	503834	broad.mit.edu	37	19	54137909	54137909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54137909G>A	ENST00000376650.1	+	2	204	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAATGGCCTCGAAAATAGACA	0.433																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(151-153)tcG>tcA		divergent-paired related homeobox							108.0	96.0	100.0					19																	54137909		2203	4300	6503	SO:0001819	synonymous_variant	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54137909G>A		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.153G>A	19.37:g.54137909G>A							p.S51S	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	2	204	+	Ovarian(34;0.19)		51						Silent	SNP	ENST00000376650.1	37	c.153G>A	CCDS33103.1																																																																																				0.433	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		56	352	0	0	0	1	0	56	352				
DDX5	1655	broad.mit.edu	37	17	62496398	62496398	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62496398T>G	ENST00000225792.5	-	13	1889	c.1488A>C	c.(1486-1488)agA>agC	p.R496S	DDX5_ENST00000450599.2_Missense_Mutation_p.R417S|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.R496S|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	496	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCGCAGAGTATCTGTCCCGAC	0.423			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1486-1488)agA>agC		DEAD (Asp-Glu-Ala-Asp) box helicase 5							88.0	90.0	90.0					17																	62496398		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496398T>G	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1488A>C	17.37:g.62496398T>G	ENSP00000225792:p.Arg496Ser					DDX5_ENST00000578804.1_Missense_Mutation_p.R496S|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Missense_Mutation_p.R417S	p.R496S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1889	-	Breast(5;2.15e-14)		496					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.1488A>C	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478558	0.12521	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	.	0.097898	0.64402	D	0.000001	T	0.47655	0.1457	L	0.47716	1.5	0.80722	D	1	B;B;B	0.32781	0.158;0.384;0.384	B;B;B	0.28305	0.018;0.088;0.088	T	0.47005	-0.9150	9	0.36615	T	0.2	-11.659	10.9731	0.47450	0.1394:0.0:0.0:0.8606	.	417;496;496	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	S	496;426;485	.	ENSP00000225792:R485S	R	-	3	2	DDX5	59926860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.190000	0.69967	0.482000	0.46254	AGA		0.423	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		142	527	0	0	0	1	0	142	527				
PDX1	3651	broad.mit.edu	37	13	28498408	28498408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28498408C>T	ENST00000381033.4	+	2	541	c.422C>T	c.(421-423)gCg>gTg	p.A141V	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCTACGCTGCGGAGCCGGAG	0.687																																						ENST00000381033.4																			0											c.(421-423)gCg>gTg		pancreatic and duodenal homeobox 1							18.0	20.0	20.0					13																	28498408		2199	4298	6497	SO:0001583	missense	3651				detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr13:28498408C>T	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.422C>T	13.37:g.28498408C>T	ENSP00000370421:p.Ala141Val						p.A141V	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	541	+	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	141					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000381033.4	37	c.422C>T	CCDS9327.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795312	0.16327	.	.	ENSG00000139515	ENST00000381033	D	0.95622	-3.76	5.01	2.85	0.33270	Homeodomain-related (1);Homeodomain-like (1);	0.225794	0.45867	N	0.000321	T	0.78991	0.4371	N	0.01048	-1.04	0.38873	D	0.956732	B	0.10296	0.003	B	0.06405	0.002	T	0.74028	-0.3796	10	0.02654	T	1	.	4.2161	0.10535	0.0:0.5026:0.0:0.4974	.	141	P52945	PDX1_HUMAN	V	141	ENSP00000370421:A141V	ENSP00000370421:A141V	A	+	2	0	PDX1	27396408	0.756000	0.28383	0.178000	0.23040	0.490000	0.33462	1.051000	0.30417	1.232000	0.43678	0.561000	0.74099	GCG		0.687	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2	NM_000209		26	102	0	0	0	1	0	26	102				
DACH1	1602	broad.mit.edu	37	13	72049848	72049848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:72049848C>A	ENST00000359684.2	-	10	2165	c.2166G>T	c.(2164-2166)agG>agT	p.R722S	DACH1_ENST00000354591.4_Missense_Mutation_p.R468S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S|DACH1_ENST00000305425.4_Missense_Mutation_p.R670S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	722					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CATTTAAGACCCTGAGACTAT	0.388																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(2008-2010)agG>agT		dachshund homolog 1 (Drosophila)							313.0	296.0	302.0					13																	72049848		1908	4134	6042	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72049848C>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2166G>T	13.37:g.72049848C>A	ENSP00000352712:p.Arg722Ser					DACH1_ENST00000359684.2_Missense_Mutation_p.R722S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S|DACH1_ENST00000354591.4_Missense_Mutation_p.R468S	p.R670S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2432	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	720			DACHbox-C.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.2010G>T		.	.	.	.	.	.	.	.	.	.	c	14.86	2.660850	0.47572	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.35236	1.34;1.4;1.39;1.32	5.1	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.24229	N	0.995409	D;D;B	0.65815	0.989;0.995;0.383	D;D;P	0.76575	0.985;0.988;0.542	T	0.35301	-0.9794	10	0.66056	D	0.02	-12.8608	8.7276	0.34478	0.0:0.708:0.0:0.292	.	466;520;668	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	S	670;522;468;722;722	ENSP00000304994:R670S;ENSP00000318506:R522S;ENSP00000346604:R468S;ENSP00000352712:R722S	ENSP00000304994:R670S	R	-	3	2	DACH1	70947849	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.668000	0.25127	0.273000	0.22049	-0.119000	0.15052	AGG		0.388	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		200	858	1	0	2.38084e-85	1	3.05127e-85	200	858				
ING5	84289	broad.mit.edu	37	2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(376-378)Cga>Tga		inhibitor of growth family, member 5							119.0	135.0	130.0					2																	242650891		2203	4296	6499	SO:0001587	stop_gained	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650891C>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.376C>T	2.37:g.242650891C>T	ENSP00000322142:p.Arg126*					ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	p.R126*	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	402	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	126					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Nonsense_Mutation	SNP	ENST00000313552.6	37	c.376C>T	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009933	0.75046	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.83	3.83	0.44106	.	0.118397	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-17.5543	16.4987	0.84252	0.2498:0.7502:0.0:0.0	.	.	.	.	X	126	.	ENSP00000322142:R126X	R	+	1	2	ING5	242299564	0.956000	0.32656	0.056000	0.19401	0.828000	0.46876	2.195000	0.42677	1.460000	0.47911	-0.181000	0.13052	CGA		0.398	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		119	438	0	0	0	1	0	119	438				
ZIC2	7546	broad.mit.edu	37	13	100637318	100637318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637318C>T	ENST00000376335.3	+	2	1487	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	398					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAGATGTGCGACAAGTCCT	0.647																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1192-1194)tgC>tgT		Zic family member 2							136.0	113.0	121.0					13																	100637318		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637318C>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1194C>T	13.37:g.100637318C>T						ZIC2_ENST00000477213.1_3'UTR	p.C398C	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			2	1487	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		398					Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1194C>T	CCDS9495.1																																																																																				0.647	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		112	392	0	0	0	1	0	112	392				
MAGT1	84061	broad.mit.edu	37	X	77131009	77131009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77131009C>T	ENST00000373336.3	-	2	217	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MAGT1_ENST00000358075.6_Missense_Mutation_p.R95H			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(283-285)cGc>cAc		magnesium transporter 1							234.0	214.0	221.0					X																	77131009		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77131009C>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.188G>A	X.37:g.77131009C>T	ENSP00000362433:p.Arg63His					MAGT1_ENST00000373336.3_Missense_Mutation_p.R63H	p.R95H	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			2	370	-			63					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	C	18.10	3.547448	0.65311	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.22945	1.93;1.93	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.25121	0.0610	L	0.42245	1.32	0.80722	D	1	P;B	0.48998	0.918;0.039	B;B	0.38562	0.276;0.01	T	0.02121	-1.1210	10	0.42905	T	0.14	-4.5856	18.8512	0.92230	0.0:1.0:0.0:0.0	.	63;95	Q9H0U3;B4DH58	MAGT1_HUMAN;.	H	95;63	ENSP00000354649:R95H;ENSP00000362433:R63H	ENSP00000354649:R95H	R	-	2	0	MAGT1	77017665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.398000	0.81561	0.600000	0.82982	CGC		0.418	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		194	565	0	0	0	1	0	194	565				
METTL13	51603	broad.mit.edu	37	1	171759640	171759640	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171759640C>T	ENST00000361735.3	+	5	1624	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000466643.1_Intron|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000362019.3_Missense_Mutation_p.A367V	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	453							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCTGCTGATGCGGAGGACCTC	0.532																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1357-1359)gCg>gTg		methyltransferase like 13							98.0	93.0	95.0					1																	171759640		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171759640C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1358C>T	1.37:g.171759640C>T	ENSP00000354920:p.Ala453Val					METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000466643.1_Intron	p.A453V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			5	1624	+			453					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1358C>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	5.713	0.316117	0.10789	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.91	3.01	0.34805	.	0.690282	0.15326	N	0.268278	T	0.00936	0.0031	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.18863	0.031;0.001;0.031	B;B;B	0.16289	0.01;0.003;0.015	T	0.47898	-0.9081	10	0.23302	T	0.38	-17.3518	6.4455	0.21873	0.0:0.6607:0.1314:0.2079	.	452;297;453	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	V	452;367;297;453	ENSP00000401955:A452V;ENSP00000355393:A367V;ENSP00000356711:A297V;ENSP00000354920:A453V	ENSP00000354920:A453V	A	+	2	0	METTL13	170026263	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.257000	0.18369	0.397000	0.25310	-0.122000	0.15005	GCG		0.532	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		139	427	0	0	0	1	0	139	427				
HLA-A	3105	broad.mit.edu	37	6	29911116	29911116	+	Missense_Mutation	SNP	C	C	A	rs199474504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911116C>A	ENST00000396634.1	+	5	756	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	139	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGGTACCGGCAGGACGCCTA	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(415-417)Cag>Aag		major histocompatibility complex, class I, A							34.0	26.0	29.0					6																	29911116		1493	2698	4191	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911116C>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.415C>A	6.37:g.29911116C>A	ENSP00000379873:p.Gln139Lys	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K	p.Q139K			P30443	1A01_HUMAN			5	756	+			139			Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.415C>A	CCDS34373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|.	9.615|9.615	1.132263|1.132263	0.21041|0.21041	.|.	.|.	ENSG00000206503|ENSG00000206503	ENST00000355767|ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.|T;T;T;T	.|0.00015	.|9.17;9.17;9.17;9.17	3.78|3.78	1.86|1.86	0.25419|0.25419	.|MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	.|0.000000	.|0.34200	.|U	.|0.004173	.|T	.|0.00241	.|0.0007	H|H	0.98238|0.98238	4.18|4.18	0.09310|0.09310	N|N	1|1	.|P;D;P;D;P;D;D	.|0.61697	.|0.641;0.99;0.953;0.989;0.953;0.982;0.989	.|B;D;D;D;D;D;D	.|0.80764	.|0.413;0.994;0.965;0.987;0.965;0.987;0.987	.|T	.|0.25222	.|-1.0138	.|10	.|0.87932	.|D	.|0	.|.	8.0676|8.0676	0.30669|0.30669	0.1792:0.6472:0.1736:0.0|0.1792:0.6472:0.1736:0.0	.|.	.|18;139;139;139;139;139;139	.|B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.|.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	.|K	-1|139	.|ENSP00000379873:Q139K;ENSP00000366002:Q139K;ENSP00000366005:Q139K;ENSP00000365998:Q139K	.|ENSP00000365998:Q139K	.|Q	+|+	.|1	.|0	HLA-A|HLA-A	30019095|30019095	0.054000|0.054000	0.20591|0.20591	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.909000|1.909000	0.39917|0.39917	0.327000|0.327000	0.23409|0.23409	0.485000|0.485000	0.47835|0.47835	.|CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		45	218	1	0	2.24722e-20	1	2.51766e-20	45	218				
GPAT2	150763	broad.mit.edu	37	2	96688941	96688941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688941G>A	ENST00000434632.1	-	20	2521	c.2062C>T	c.(2062-2064)Ctt>Ttt	p.L688F	GPAT2_ENST00000453542.1_Missense_Mutation_p.L617F|GPAT2_ENST00000377137.3_Intron|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.L688F			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	688					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGAGGAAAAGAAAGAAATCT	0.662																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2062-2064)Ctt>Ttt		glycerol-3-phosphate acyltransferase 2, mitochondrial							16.0	18.0	18.0					2																	96688941		1838	4076	5914	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688941G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2062C>T	2.37:g.96688941G>A	ENSP00000389395:p.Leu688Phe					GPAT2_ENST00000453542.1_Missense_Mutation_p.L617F|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Missense_Mutation_p.L688F	p.L688F			Q6NUI2	GPAT2_HUMAN			20	2521	-			688					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2062C>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	15.40	2.822033	0.50739	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.77229	-1.08;-1.08;-0.07	5.44	4.54	0.55810	.	0.218476	0.39544	N	0.001334	T	0.79811	0.4510	L	0.38531	1.155	0.80722	D	1	D;B;D;D	0.71674	0.998;0.155;0.959;0.995	D;B;P;D	0.66351	0.943;0.038;0.734;0.919	T	0.79729	-0.1681	10	0.56958	D	0.05	-24.6156	9.0082	0.36124	0.0:0.1622:0.6697:0.168	.	617;694;688;617	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	F	688;688;617	ENSP00000352547:L688F;ENSP00000389395:L688F;ENSP00000393770:L617F	ENSP00000352547:L688F	L	-	1	0	GPAT2	96052668	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.859000	0.39418	1.267000	0.44247	0.637000	0.83480	CTT		0.662	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	86	0	0	0	1	0	6	86				
CHD1L	9557	broad.mit.edu	37	1	146731508	146731508	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146731508T>G	ENST00000369258.4	+	6	532	c.512T>G	c.(511-513)cTt>cGt	p.L171R	CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R|CHD1L_ENST00000361293.5_5'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	171	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGGAGTGTTCTTGTTGTGGAT	0.378																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(511-513)cTt>cGt		chromodomain helicase DNA binding protein 1-like							202.0	213.0	209.0					1																	146731508		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146731508T>G	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.512T>G	1.37:g.146731508T>G	ENSP00000358262:p.Leu171Arg					CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R	p.L171R	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			6	532	+	all_hematologic(923;0.0487)		171			Helicase ATP-binding.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.512T>G	CCDS927.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157255	0.78114	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.95001	-3.58;-3.58	4.96	4.96	0.65561	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.97532	0.9192	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98374	1.0555	10	0.87932	D	0	.	11.3378	0.49513	0.0:0.0:0.0:1.0	.	171;171	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	R	171;171;71;132	ENSP00000389031:L171R;ENSP00000358262:L171R	ENSP00000254086:L132R	L	+	2	0	CHD1L	145198132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.048000	0.76606	1.993000	0.58246	0.528000	0.53228	CTT		0.378	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		187	1024	0	0	0	1	0	187	1024				
ZNF833P	401898	broad.mit.edu	37	19	11796008	11796008	+	lincRNA	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11796008A>T	ENST00000344893.3	+	0	2007					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						AATGTGGAAAAACCTTCATTT	0.383																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5															53.0	55.0	55.0					19																	11796008		2203	4300	6503			0							g.chr19:11796008A>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796008A>T								NR_028594.1						0	2007	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.383	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		42	178	0	0	0	1	0	42	178				
PRRC2C	23215	broad.mit.edu	37	1	171560857	171560857	+	Silent	SNP	C	C	T	rs190638001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171560857C>T	ENST00000338920.4	+	34	8562	c.8325C>T	c.(8323-8325)acC>acT	p.T2775T	PRRC2C_ENST00000392078.3_Silent_p.T2856T|PRRC2C_ENST00000426496.2_Silent_p.T2710T|PRRC2C_ENST00000367742.3_Silent_p.T2777T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2854					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAACACTGACCGACCCTCCTG	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15918	0.0		0.0	False		,,,				2504	0.0					ENST00000367742.3																			0											c.(8329-8331)acC>acT		proline-rich coiled-coil 2C							71.0	71.0	71.0					1																	171560857		1874	4100	5974	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171560857C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8325C>T	1.37:g.171560857C>T						PRRC2C_ENST00000338920.4_Silent_p.T2775T|PRRC2C_ENST00000392078.3_Silent_p.T2856T|PRRC2C_ENST00000426496.2_Silent_p.T2710T	p.T2777T			Q9Y520	PRC2C_HUMAN			34	8573	+			1053					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.8331C>T	CCDS1296.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	1.170	-0.641154	0.03557	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.58	-10.3	0.00346	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.45005	D	0.998024	.	.	.	.	.	.	T	0.43081	-0.9413	4	.	.	.	.	4.3941	0.11355	0.1849:0.4339:0.0946:0.2866	.	.	.	.	L	1258	.	.	P	+	2	0	PRRC2C	169827480	0.000000	0.05858	0.171000	0.22900	0.777000	0.43975	-3.083000	0.00612	-1.942000	0.01040	-1.512000	0.00943	CCG		0.507	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		13	352	0	0	0	1	0	13	352				
SPEG	10290	broad.mit.edu	37	2	220347984	220347984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220347984C>T	ENST00000312358.7	+	30	5931	c.5799C>T	c.(5797-5799)ccC>ccT	p.P1933P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1933					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGAGCTGCCCTCAGTGCCCC	0.662																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5797-5799)ccC>ccT		SPEG complex locus							10.0	12.0	12.0					2																	220347984		1860	4074	5934	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220347984C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5799C>T	2.37:g.220347984C>T						AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.P1933P	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	5931	+		Renal(207;0.0183)	1933					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.5799C>T	CCDS42824.1																																																																																				0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		9	114	0	0	0	1	0	9	114				
RYR2	6262	broad.mit.edu	37	1	237796907	237796907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237796907C>A	ENST00000366574.2	+	43	6902	c.6585C>A	c.(6583-6585)aaC>aaA	p.N2195K	RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2195	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTGGCCAACTGTTGCCGTT	0.393																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6583-6585)aaC>aaA		ryanodine receptor 2 (cardiac)							251.0	243.0	246.0					1																	237796907		1880	4101	5981	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237796907C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6585C>A	1.37:g.237796907C>A	ENSP00000355533:p.Asn2195Lys					RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K	p.N2195K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6902	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2195			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6585C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097651	0.56075	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95137	-3.62;-3.62;-3.62	4.9	3.99	0.46301	Intracellular calcium-release channel (1);	0.074616	0.49916	D	0.000136	D	0.91153	0.7214	N	0.08118	0	0.80722	D	1	D	0.55800	0.973	P	0.61003	0.882	D	0.89626	0.3852	10	0.41790	T	0.15	-19.2027	8.245	0.31682	0.0:0.7581:0.0:0.2419	.	2195	Q92736	RYR2_HUMAN	K	2195;2193;2179	ENSP00000355533:N2195K;ENSP00000353174:N2193K;ENSP00000443798:N2179K	ENSP00000353174:N2193K	N	+	3	2	RYR2	235863530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.273000	0.51623	1.180000	0.42898	0.563000	0.77884	AAC		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		183	654	1	0	6.86035e-81	1	8.77565e-81	183	654				
ARFGEF1	10565	broad.mit.edu	37	8	68117027	68117027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117027G>A	ENST00000262215.3	-	35	5236	c.4847C>T	c.(4846-4848)gCc>gTc	p.A1616V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1616					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATCAACAGGGCAGCAAACAA	0.373																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4846-4848)gCc>gTc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							94.0	87.0	89.0					8																	68117027		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68117027G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4847C>T	8.37:g.68117027G>A	ENSP00000262215:p.Ala1616Val					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V	p.A1616V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		35	5236	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1616					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4847C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936052	0.73442	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.51817	0.69;0.69;0.69	6.07	6.07	0.98685	.	0.054916	0.64402	D	0.000001	T	0.41650	0.1168	L	0.29908	0.895	0.80722	D	1	B;B;B	0.19935	0.017;0.04;0.022	B;B;B	0.18561	0.022;0.022;0.01	T	0.10730	-1.0617	10	0.38643	T	0.18	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	1616;440;1070	Q9Y6D6;B3KMS9;E5RIF2	BIG1_HUMAN;.;.	V	1070;1616;454	ENSP00000428429:A1070V;ENSP00000262215:A1616V;ENSP00000430891:A454V	ENSP00000262215:A1616V	A	-	2	0	ARFGEF1	68279581	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.912000	0.87465	2.884000	0.98904	0.655000	0.94253	GCC		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		109	388	0	0	0	1	0	109	388				
LPIN2	9663	broad.mit.edu	37	18	2937906	2937906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2937906C>T	ENST00000261596.4	-	7	1190	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	318					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACAGTGTCTTCCATGGAAGCA	0.483																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(952-954)Gaa>Aaa		lipin 2							173.0	155.0	161.0					18																	2937906		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2937906C>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.952G>A	18.37:g.2937906C>T	ENSP00000261596:p.Glu318Lys						p.E318K	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	7	1190	-			318					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.952G>A	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008567	0.07727	.	.	ENSG00000101577	ENST00000261596	T	0.80214	-1.35	5.96	5.96	0.96718	.	1.088990	0.06752	N	0.780147	T	0.66954	0.2842	N	0.16656	0.425	0.29070	N	0.883339	B	0.02656	0.0	B	0.01281	0.0	T	0.54774	-0.8243	10	0.09590	T	0.72	.	9.2797	0.37720	0.0:0.8811:0.0:0.1189	.	318	Q92539	LPIN2_HUMAN	K	318	ENSP00000261596:E318K	ENSP00000261596:E318K	E	-	1	0	LPIN2	2927906	0.662000	0.27439	0.713000	0.30519	0.973000	0.67179	2.963000	0.49184	2.832000	0.97577	0.655000	0.94253	GAA		0.483	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		127	416	0	0	0	1	0	127	416				
MAVS	57506	broad.mit.edu	37	20	3842924	3842924	+	Silent	SNP	G	G	A	rs150835407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3842924G>A	ENST00000428216.2	+	5	617	c.489G>A	c.(487-489)acG>acA	p.T163T	MAVS_ENST00000416600.2_Silent_p.T22T|MAVS_ENST00000358134.6_Missense_Mutation_p.A106T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	163					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCAGACGCTCAGCCCCA	0.587																																						ENST00000358134.6																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(316-318)Gct>Act		mitochondrial antiviral signaling protein							49.0	51.0	50.0					20																	3842924		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3842924G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.489G>A	20.37:g.3842924G>A						MAVS_ENST00000428216.2_Silent_p.T163T|MAVS_ENST00000416600.2_Silent_p.T22T	p.A106T			Q7Z434	MAVS_HUMAN			3	316	+			107			Pro-rich.		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.316G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883678	0.17467	.	.	ENSG00000088888	ENST00000358134	T	0.11495	2.77	3.56	-3.22	0.05125	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	8	0.17369	T	0.5	-0.588	4.4783	0.11755	0.3447:0.3412:0.3141:0.0	.	106	B2BD34	.	T	106	ENSP00000350852:A106T	ENSP00000350852:A106T	A	+	1	0	MAVS	3790924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.082000	0.14847	-0.708000	0.05015	-1.004000	0.02495	GCT		0.587	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		53	217	0	0	0	1	0	53	217				
KIAA1467	57613	broad.mit.edu	37	12	13208820	13208820	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13208820A>G	ENST00000197268.8	+	2	493	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	125						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGCTTTCCTGATCCCCTGTCC	0.577																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(373-375)Atc>Gtc		KIAA1467							59.0	52.0	54.0					12																	13208820		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208820A>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.373A>G	12.37:g.13208820A>G	ENSP00000197268:p.Ile125Val						p.I125V	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	493	+		Prostate(47;0.184)	125					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.373A>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	a	15.87	2.959419	0.53400	.	.	ENSG00000084444	ENST00000197268	T	0.21543	2.0	5.33	4.2	0.49525	Quinonprotein alcohol dehydrogenase-like (1);	0.120006	0.56097	D	0.000024	T	0.21631	0.0521	M	0.66939	2.045	0.34721	D	0.728697	P	0.38223	0.623	B	0.36186	0.219	T	0.30592	-0.9973	10	0.28530	T	0.3	-24.0397	10.5842	0.45273	0.9248:0.0:0.0752:0.0	.	125	A2RU67	K1467_HUMAN	V	125	ENSP00000197268:I125V	ENSP00000197268:I125V	I	+	1	0	KIAA1467	13100087	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.481000	0.60250	2.020000	0.59435	0.487000	0.48397	ATC		0.577	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		72	271	0	0	0	1	0	72	271				
FAM179B	23116	broad.mit.edu	37	14	45432455	45432455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432455C>A	ENST00000361577.3	+	1	1045	c.831C>A	c.(829-831)ttC>ttA	p.F277L	FAM179B_ENST00000361462.2_Missense_Mutation_p.F277L|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	277										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGACAGCTTTCTCCGCACTTC	0.507																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(829-831)ttC>ttA		family with sequence similarity 179, member B							83.0	89.0	87.0					14																	45432455		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432455C>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.831C>A	14.37:g.45432455C>A	ENSP00000355045:p.Phe277Leu					FAM179B_ENST00000361577.3_Missense_Mutation_p.F277L|FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L	p.F277L			Q9Y4F4	F179B_HUMAN			1	1014	+			277					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.831C>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534101	0.45073	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.55052	0.54;0.54;0.54	5.05	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49305	D	0.000154	T	0.50309	0.1608	N	0.19112	0.55	0.29801	N	0.83247	B;D;D;B	0.58268	0.119;0.982;0.979;0.119	B;D;D;B	0.68943	0.067;0.961;0.92;0.067	T	0.43310	-0.9399	10	0.40728	T	0.16	-9.5516	6.3306	0.21269	0.0:0.7762:0.0:0.2238	.	277;277;277;277	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	L	277	ENSP00000355045:F277L;ENSP00000354917:F277L;ENSP00000371668:F277L	ENSP00000354917:F277L	F	+	3	2	FAM179B	44502205	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	0.604000	0.24164	1.354000	0.45846	0.561000	0.74099	TTC		0.507	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		98	464	1	0	2.54621e-43	1	3.10758e-43	98	464				
NOS3	4846	broad.mit.edu	37	7	150692340	150692340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150692340C>T	ENST00000484524.1	+	2	208	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Missense_Mutation_p.R70C|NOS3_ENST00000297494.3_Missense_Mutation_p.R70C	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGTTCCCTCGTGTGAAGAA	0.637																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(208-210)Cgt>Tgt		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						37.0	40.0	39.0					7																	150692340		2201	4296	6497	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150692340C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.208C>T	7.37:g.150692340C>T	ENSP00000420215:p.Arg70Cys					NOS3_ENST00000467517.1_Missense_Mutation_p.R70C|NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000484524.1_Missense_Mutation_p.R70C	p.R70C	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	565	+	all_neural(206;0.219)		70					Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.208C>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.017679	0.54576	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.26067	1.76;1.76;1.76	4.2	-0.186	0.13272	Nitric oxide synthase, oxygenase domain (1);	0.000000	0.44902	D	0.000418	T	0.33177	0.0854	L	0.43923	1.385	0.40527	D	0.980891	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;D;P	0.67725	0.771;0.876;0.953;0.905	T	0.12656	-1.0539	10	0.87932	D	0	-23.0284	6.1525	0.20320	0.4592:0.4455:0.0:0.0952	.	70;70;70;70	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	C	70	ENSP00000297494:R70C;ENSP00000420215:R70C;ENSP00000420551:R70C	ENSP00000297494:R70C	R	+	1	0	NOS3	150323273	0.008000	0.16893	0.966000	0.40874	0.698000	0.40448	0.878000	0.28126	0.300000	0.22699	-0.174000	0.13273	CGT		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		19	156	0	0	0	1	0	19	156				
CBFA2T2	9139	broad.mit.edu	37	20	32212656	32212656	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212656A>G	ENST00000346541.3	+	7	1343	c.806A>G	c.(805-807)cAc>cGc	p.H269R	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.H260R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	269					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCTCCTCGGCACAGTCCTGCT	0.507																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(805-807)cAc>cGc		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							122.0	101.0	108.0					20																	32212656		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32212656A>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.806A>G	20.37:g.32212656A>G	ENSP00000262653:p.His269Arg					CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.H260R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R	p.H269R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			7	1343	+			269					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.806A>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758999	0.49468	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45668	0.89;0.9;0.89;0.9;1.49	5.83	5.83	0.93111	.	0.046008	0.85682	D	0.000000	T	0.61527	0.2354	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.77557	0.977;0.99	T	0.61724	-0.7004	10	0.51188	T	0.08	-6.2373	16.2005	0.82071	1.0:0.0:0.0:0.0	.	269;260	O43439;F8W6D7	MTG8R_HUMAN;.	R	43;269;260;269;240;279	ENSP00000364428:H269R;ENSP00000345810:H260R;ENSP00000262653:H269R;ENSP00000380902:H240R;ENSP00000352622:H279R	ENSP00000345810:H260R	H	+	2	0	CBFA2T2	31676317	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	8.962000	0.93254	2.227000	0.72691	0.528000	0.53228	CAC		0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		86	386	0	0	0	1	0	86	386				
LIMK2	3985	broad.mit.edu	37	22	31669446	31669446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31669446T>C	ENST00000331728.4	+	14	1681	c.1567T>C	c.(1567-1569)Tat>Cat	p.Y523H	LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000467301.1_3'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	523	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAAAGAGCTATGATGAGAC	0.532											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1567-1569)Tat>Cat		LIM domain kinase 2							277.0	193.0	221.0					22																	31669446		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31669446T>C	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1567T>C	22.37:g.31669446T>C	ENSP00000332687:p.Tyr523His		OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	826	LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H	p.Y523H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			14	1681	+			523			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1567T>C	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.261998	0.80358	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.53	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.84846	2.72	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.977	D	0.95049	0.8185	10	0.87932	D	0	-29.6651	12.0303	0.53394	0.0:0.0:0.1445:0.8555	.	555;502;277;523;445	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	H	445;277;523;555;502;502	ENSP00000384602:Y445H;ENSP00000409522:Y277H;ENSP00000332687:Y523H;ENSP00000330470:Y502H;ENSP00000339916:Y502H	ENSP00000332687:Y523H	Y	+	1	0	LIMK2	29999446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	0.904000	0.36572	0.460000	0.39030	TAT		0.532	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		44	202	0	0	0	1	0	44	202				
TRPM7	54822	broad.mit.edu	37	15	50901842	50901842	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50901842A>C	ENST00000313478.7	-	19	2797	c.2516T>G	c.(2515-2517)cTt>cGt	p.L839R	TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	839					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CGTAATTGGAAGCTTTTTTGA	0.274																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(2515-2517)cTt>cGt		transient receptor potential cation channel, subfamily M, member 7							188.0	174.0	178.0					15																	50901842		1818	4068	5886	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50901842A>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2516T>G	15.37:g.50901842A>C	ENSP00000320239:p.Leu839Arg					TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	p.L839R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	19	2797	-			839					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.2516T>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366274	0.82463	.	.	ENSG00000092439	ENST00000313478	T	0.81415	-1.49	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.90256	0.4297	10	0.87932	D	0	-19.001	15.7606	0.78076	1.0:0.0:0.0:0.0	.	839	Q96QT4	TRPM7_HUMAN	R	839	ENSP00000320239:L839R	ENSP00000320239:L839R	L	-	2	0	TRPM7	48689134	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.497000	0.81536	2.137000	0.66172	0.383000	0.25322	CTT		0.274	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		42	204	0	0	0	1	0	42	204				
HGS	9146	broad.mit.edu	37	17	79662228	79662228	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79662228C>A	ENST00000329138.4	+	14	1289	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	385	Interaction with SNX1. {ECO:0000250}.|Pro-rich.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCCCATTCCTCCCTCTGGT	0.637																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1153-1155)cCt>cAt		hepatocyte growth factor-regulated tyrosine kinase substrate							103.0	99.0	100.0					17																	79662228		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79662228C>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1154C>A	17.37:g.79662228C>A	ENSP00000331201:p.Pro385His						p.P385H	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		14	1289	+	all_neural(118;0.0878)|all_lung(278;0.23)		385			Interaction with SNX1 (By similarity).|Pro-rich.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.1154C>A	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191329	0.21954	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38240	1.15	3.87	2.89	0.33648	.	1.405290	0.04662	N	0.409156	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.25291	0.059	T	0.24835	-1.0149	10	0.49607	T	0.09	-0.052	2.7002	0.05146	0.191:0.5197:0.1848:0.1044	.	385	O14964	HGS_HUMAN	H	385	ENSP00000331201:P385H	ENSP00000331201:P385H	P	+	2	0	HGS	77272633	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	0.759000	0.26461	0.806000	0.34183	0.313000	0.20887	CCT		0.637	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		112	428	1	0	3.22635e-48	1	3.98049e-48	112	428				
SRCAP	10847	broad.mit.edu	37	16	30749384	30749384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30749384G>T	ENST00000262518.4	+	34	8408	c.8023G>T	c.(8023-8025)Gaa>Taa	p.E2675*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2675	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGACCTCGGAAGAGCTGAC	0.592																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8023-8025)Gaa>Taa		Snf2-related CREBBP activator protein							78.0	66.0	70.0					16																	30749384		2197	4300	6497	SO:0001587	stop_gained	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749384G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8023G>T	16.37:g.30749384G>T	ENSP00000262518:p.Glu2675*					SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*	p.E2675*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8408	+			2675			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	c.8023G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	44	10.550334	0.99426	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.02	4.02	0.46733	.	0.272978	0.26289	N	0.025226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.7686	14.0938	0.65006	0.0:0.0:1.0:0.0	.	.	.	.	X	2675;2613;2517	.	ENSP00000262518:E2675X	E	+	1	0	SRCAP	30656885	0.993000	0.37304	0.967000	0.41034	0.135000	0.20990	2.659000	0.46741	2.543000	0.85770	0.467000	0.42956	GAA		0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		35	311	1	0	2.47316e-13	1	2.66891e-13	35	311				
ZNF616	90317	broad.mit.edu	37	19	52618157	52618157	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618157A>C	ENST00000600228.1	-	4	2521	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGACAAATAAAAGATTTCCCA	0.408																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2260-2262)Ttt>Gtt		zinc finger protein 616							136.0	130.0	132.0					19																	52618157		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618157A>C	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2260T>G	19.37:g.52618157A>C	ENSP00000471000:p.Phe754Val					ZNF616_ENST00000330123.5_3'UTR	p.F754V	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2521	-			754					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2260T>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	A	9.284	1.048981	0.19827	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79913	0.4528	H	0.98351	4.21	0.09310	N	0.999998	D	0.69078	0.997	D	0.87578	0.998	T	0.66571	-0.5890	8	0.87932	D	0	.	6.943	0.24502	0.7646:0.2354:0.0:0.0	.	754	Q08AN1	ZN616_HUMAN	V	754	.	ENSP00000328722:F754V	F	-	1	0	ZNF616	57309969	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.690000	0.37711	0.036000	0.15547	-0.636000	0.03981	TTT		0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		101	362	0	0	0	1	0	101	362				
BRD3	8019	broad.mit.edu	37	9	136917482	136917482	+	Silent	SNP	G	G	A	rs61731642		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136917482G>A	ENST00000303407.7	-	3	482	c.297C>T	c.(295-297)agC>agT	p.S99S	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Silent_p.S99S|BRD3_ENST00000357885.2_Silent_p.S99S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	99	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCATACATTCGCTTGCACTCC	0.373			T	C15orf55	lethal midline carcinoma of young people								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17957	0.0		0.0	False		,,,				2504	0.0					ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(295-297)agC>agT		bromodomain containing 3		G		11,4395	17.9+/-39.9	0,11,2192	106.0	108.0	108.0		297	-8.7	0.0	9	dbSNP_129	108	0,8600		0,0,4300	no	coding-synonymous	BRD3	NM_007371.3		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		99/727	136917482	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136917482G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.297C>T	9.37:g.136917482G>A						BRD3_ENST00000371834.2_Silent_p.S99S|BRD3_ENST00000357885.2_Silent_p.S99S	p.S99S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	3	482	-			99			Bromo 1.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.297C>T	CCDS6980.1																																																																																				0.373	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		31	264	0	0	0	1	0	31	264				
RPRD1B	58490	broad.mit.edu	37	20	36662454	36662454	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36662454G>A	ENST00000373433.4	+	1	507	c.105G>A	c.(103-105)aaG>aaA	p.K35K	TTI1_ENST00000373447.3_5'Flank|TTI1_ENST00000373448.2_5'Flank	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	35	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCACCGCAAGCACGCGGGAC	0.632																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(103-105)aaG>aaA		regulation of nuclear pre-mRNA domain containing 1B							96.0	88.0	90.0					20																	36662454		2203	4300	6503	SO:0001819	synonymous_variant	58490							g.chr20:36662454G>A	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.105G>A	20.37:g.36662454G>A							p.K35K	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			1	507	+			35			CID.		Q1WDE7|Q6PKF4	Silent	SNP	ENST00000373433.4	37	c.105G>A	CCDS13301.1																																																																																				0.632	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		99	499	0	0	0	1	0	99	499				
ZCCHC6	79670	broad.mit.edu	37	9	88938254	88938254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88938254G>A	ENST00000375963.3	-	13	2583	c.2411C>T	c.(2410-2412)gCc>gTc	p.A804V	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.A93V|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	804					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATCTAAAGTGGCAAGTCCCTC	0.453																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(277-279)gCc>gTc		zinc finger, CCHC domain containing 6							150.0	141.0	144.0					9																	88938254		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938254G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2411C>T	9.37:g.88938254G>A	ENSP00000365130:p.Ala804Val					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.A804V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V	p.A93V			Q5VYS8	TUT7_HUMAN			14	2702	-			804					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.278C>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229520	0.22542	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.54866	0.55;0.99;0.98;0.98	5.29	2.23	0.28157	.	1.199960	0.05745	N	0.602137	T	0.36880	0.0983	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.21861	-1.0233	10	0.30854	T	0.27	-4.5993	4.6312	0.12502	0.4745:0.2327:0.2929:0.0	.	681;804	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	V	93;681;804;804	ENSP00000277141:A93V;ENSP00000365127:A681V;ENSP00000365128:A804V;ENSP00000365130:A804V	ENSP00000277141:A93V	A	-	2	0	ZCCHC6	88128074	0.219000	0.23619	0.002000	0.10522	0.252000	0.25951	0.778000	0.26732	0.324000	0.23333	0.585000	0.79938	GCC		0.453	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		130	577	0	0	0	1	0	130	577				
LYST	1130	broad.mit.edu	37	1	235973135	235973135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235973135A>C	ENST00000389794.3	-	5	1157	c.983T>G	c.(982-984)tTt>tGt	p.F328C	LYST_ENST00000389793.2_Missense_Mutation_p.F328C|LYST_ENST00000536965.1_Missense_Mutation_p.F328C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	328					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACTGTTCGAAAGAGCATCCT	0.448																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(982-984)tTt>tGt		lysosomal trafficking regulator							46.0	44.0	45.0					1																	235973135		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973135A>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.983T>G	1.37:g.235973135A>C	ENSP00000374444:p.Phe328Cys					LYST_ENST00000389793.2_Missense_Mutation_p.F328C|LYST_ENST00000536965.1_Missense_Mutation_p.F328C	p.F328C			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1157	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	328					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.983T>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175695	0.57692	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.15017	2.46;2.46;2.46	5.49	3.12	0.35913	.	0.194698	0.47455	D	0.000228	T	0.27241	0.0668	L	0.44542	1.39	0.32441	N	0.546732	D;D	0.76494	0.999;0.996	D;P	0.65443	0.935;0.847	T	0.26950	-1.0088	10	0.87932	D	0	.	7.258	0.26187	0.7988:0.0:0.0706:0.1306	.	328;328	Q99698-3;Q99698	.;LYST_HUMAN	C	328	ENSP00000374444:F328C;ENSP00000374443:F328C;ENSP00000438315:F328C	ENSP00000374443:F328C	F	-	2	0	LYST	234039758	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.269000	0.65542	0.980000	0.38523	0.533000	0.62120	TTT		0.448	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			64	154	0	0	0	1	0	64	154				
TPM2	7169	broad.mit.edu	37	9	35685060	35685060	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685060C>A	ENST00000360958.2	-	5	668				TPM2_ENST00000378292.3_Splice_Site|TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)						muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTCACTACCTCCTCCTCT	0.627																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e6+1		tropomyosin 2 (beta)							88.0	84.0	85.0					9																	35685060		2203	4300	6503	SO:0001627	intron_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35685060C>A		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.563+205G>T	9.37:g.35685060C>A						TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000360958.2_Intron		NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	1842	-	all_epithelial(49;0.121)							A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Splice_Site	SNP	ENST00000360958.2	37		CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595853	0.66332	.	.	ENSG00000198467	ENST00000378292	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8988	0.88897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPM2	35675060	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.647000	0.83462	2.538000	0.85594	0.655000	0.94253	.		0.627	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		100	367	1	0	8.87708e-63	1	1.11928e-62	100	367				
PNPO	55163	broad.mit.edu	37	17	46024046	46024046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46024046C>A	ENST00000225573.4	+	7	789	c.684C>A	c.(682-684)gaC>gaA	p.D228E	PNPO_ENST00000544840.1_Missense_Mutation_p.D210E|PNPO_ENST00000534893.1_Missense_Mutation_p.D133E|RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|RP11-6N17.6_ENST00000580372.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	228					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						GCCTGCATGACCGGATAGTCT	0.572											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225573.4																			0				endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						c.(682-684)gaC>gaA		pyridoxamine 5'-phosphate oxidase	Pyridoxal Phosphate(DB00114)						80.0	82.0	81.0					17																	46024046		2203	4300	6503	SO:0001583	missense	55163				pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	g.chr17:46024046C>A	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.684C>A	17.37:g.46024046C>A	ENSP00000225573:p.Asp228Glu		OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	936	RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|PNPO_ENST00000544840.1_Missense_Mutation_p.D210E|PNPO_ENST00000534893.1_Missense_Mutation_p.D133E	p.D228E	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN			7	789	+			228					B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	ENST00000225573.4	37	c.684C>A	CCDS11522.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668792	0.88348	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.22	4.24	0.50183	Pyridoxine 5&apos (1);Pyridoxamine 5&apos (1);FMN-binding split barrel-related (1);-phosphate oxidase, conserved site (1);-phosphate oxidase, dimerisation, C-terminal (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.986;0.999	D	0.90007	0.4118	10	0.87932	D	0	-5.5804	13.0283	0.58827	0.0:0.9187:0.0:0.0813	.	185;210;228	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	E	228;185;210;133	ENSP00000225573:D228E;ENSP00000399960:D185E;ENSP00000446182:D210E;ENSP00000437480:D133E	ENSP00000225573:D228E	D	+	3	2	PNPO	43379045	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.934000	0.48956	2.439000	0.82584	0.561000	0.74099	GAC		0.572	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	NM_018129		100	368	1	0	8.26238e-36	1	9.87673e-36	100	368				
RCOR1	23186	broad.mit.edu	37	14	103174857	103174857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174857C>T	ENST00000570597.1	+	6	707	c.707C>T	c.(706-708)aCg>aTg	p.T236M	RCOR1_ENST00000262241.6_Missense_Mutation_p.T239M			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	236	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TGGAAGAAGACGAGGACTAAA	0.403																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(715-717)aCg>aTg		REST corepressor 1							152.0	169.0	164.0					14																	103174857		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174857C>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.707C>T	14.37:g.103174857C>T	ENSP00000459789:p.Thr236Met					RCOR1_ENST00000570597.1_Missense_Mutation_p.T236M	p.T239M	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	942	+			236			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.716C>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.180935	0.78677	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.78	5.78	0.91487	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.048767	0.85682	D	0.000000	D	0.83764	0.5325	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.85306	0.1076	9	0.87932	D	0	-19.5135	20.012	0.97458	0.0:1.0:0.0:0.0	.	236	Q9UKL0	RCOR1_HUMAN	M	236	.	ENSP00000262241:T236M	T	+	2	0	RCOR1	102244610	0.993000	0.37304	0.960000	0.40013	0.985000	0.73830	2.985000	0.49362	2.731000	0.93534	0.655000	0.94253	ACG		0.403	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		20	1323	0	0	0	1	0	20	1323				
SERPINC1	462	broad.mit.edu	37	1	173881079	173881079	+	Missense_Mutation	SNP	C	C	T	rs121909563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173881079C>T	ENST00000367698.3	-	3	600	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	161			R -> Q (in AT3D; type-II; Geneva). {ECO:0000269|PubMed:2229057, ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCGATAGAGTCGGCAGTTCAG	0.398																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25	GRCh37	CM900039	SERPINC1	M	rs121909563	c.(481-483)cGa>cAa		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	219.0	199.0	206.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	482	5.7	1.0	1	dbSNP_133	206	0,8600		0,0,4300	no	missense	SERPINC1	NM_000488.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	161/465	173881079	1,13005	2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173881079C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.482G>A	1.37:g.173881079C>T	ENSP00000356671:p.Arg161Gln						p.R161Q	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			3	600	-			161		R -> Q (in AT3D; type-II; Geneva).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.482G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253842	0.95336	2.27E-4	0.0	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.84516	-1.86	5.66	5.66	0.87406	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	L	0.33093	0.98	0.80722	A	1	D	0.89917	1.0	D	0.67382	0.951	D	0.87179	0.2226	9	0.54805	T	0.06	.	19.7525	0.96273	0.0:1.0:0.0:0.0	.	161	P01008	ANT3_HUMAN	Q	161	ENSP00000356671:R161Q	ENSP00000307953:R161Q	R	-	2	0	SERPINC1	172147702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.669000	0.90835	0.591000	0.81541	CGA		0.398	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		115	655	0	0	0	1	0	115	655				
IGFBP5	3488	broad.mit.edu	37	2	217543756	217543756	+	Silent	SNP	G	G	A	rs146074282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217543756G>A	ENST00000233813.4	-	2	1133	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	128					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCTCCTCGGCCATCTCAG	0.632																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(382-384)gcC>gcT		insulin-like growth factor binding protein 5		G		0,4406		0,0,2203	79.0	72.0	74.0		384	-10.1	0.2	2	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGFBP5	NM_000599.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		128/273	217543756	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217543756G>A		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.384C>T	2.37:g.217543756G>A							p.A128A	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1133	-		Renal(323;0.0822)	128					Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.384C>T	CCDS2405.1																																																																																				0.632	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		28	393	0	0	0	1	0	28	393				
BCAR3	8412	broad.mit.edu	37	1	94140364	94140364	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94140364G>T	ENST00000370244.1	-	4	411	c.123C>A	c.(121-123)gcC>gcA	p.A41A	BCAR3_ENST00000370243.1_Silent_p.A41A|BCAR3_ENST00000260502.6_Silent_p.A41A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	41					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATCTTGATAGGCATCTGGGC	0.562																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(121-123)gcC>gcA		breast cancer anti-estrogen resistance 3							77.0	70.0	72.0					1																	94140364		2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94140364G>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.123C>A	1.37:g.94140364G>T						BCAR3_ENST00000370243.1_Silent_p.A41A|BCAR3_ENST00000260502.6_Silent_p.A41A	p.A41A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	4	411	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	41					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.123C>A	CCDS745.1																																																																																				0.562	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			48	157	1	0	1.48734e-19	1	1.65976e-19	48	157				
SLC5A8	160728	broad.mit.edu	37	12	101560474	101560474	+	Missense_Mutation	SNP	C	C	A	rs372017110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101560474C>A	ENST00000536262.2	-	12	1882	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAACAAGTGCTCCCTGTAAA	0.368																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1324-1326)Gca>Tca		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							63.0	57.0	59.0					12																	101560474		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101560474C>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1324G>T	12.37:g.101560474C>A	ENSP00000445340:p.Ala442Ser						p.A442S	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			12	1882	-			442						Missense_Mutation	SNP	ENST00000536262.2	37	c.1324G>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449801	0.43531	.	.	ENSG00000256870	ENST00000536262	D	0.95447	-3.71	5.54	3.61	0.41365	.	0.125811	0.53938	D	0.000060	D	0.95667	0.8591	M	0.91459	3.21	0.54753	D	0.999986	B	0.30686	0.29	B	0.34931	0.192	D	0.94865	0.8025	10	0.56958	D	0.05	.	9.3499	0.38131	0.1436:0.7793:0.0:0.0771	.	442	Q8N695	SC5A8_HUMAN	S	442	ENSP00000445340:A442S	ENSP00000445340:A442S	A	-	1	0	SLC5A8	100084605	1.000000	0.71417	0.987000	0.45799	0.597000	0.36814	3.542000	0.53625	1.338000	0.45544	-0.150000	0.13652	GCA		0.368	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		15	93	1	0	5.01169e-05	1	5.1097e-05	15	93				
SERPINB10	5273	broad.mit.edu	37	18	61582747	61582747	+	Start_Codon_SNP	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61582747G>A	ENST00000238508.3	+	2	62	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	1					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTTCCTCAATGGACTCTCTAG	0.343																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(1-3)atG>atA		serpin peptidase inhibitor, clade B (ovalbumin), member 10							78.0	79.0	79.0					18																	61582747		2203	4300	6503	SO:0001582	initiator_codon_variant	5273							g.chr18:61582747G>A	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.3G>A	18.37:g.61582747G>A	ENSP00000238508:p.Met1Ile						p.M1I	NM_005024.1	NP_005015.1					2	62	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Translation_Start_Site	SNP	ENST00000238508.3	37	c.3G>A	CCDS11990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.42|15.42	2.828984|2.828984	0.50845|0.50845	.|.	.|.	ENSG00000242550|ENSG00000242550	ENST00000397996;ENST00000418725|ENST00000238508	.|D	.|0.82803	.|-1.65	5.97|5.97	5.1|5.1	0.69264|0.69264	.|Serpin domain (1);	.|0.203982	.|0.50627	.|D	.|0.000104	D|D	0.90693|0.90693	0.7080|0.7080	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;B	.|0.63880	.|0.993;0.18	.|D;B	.|0.70227	.|0.968;0.03	D|D	0.91872|0.91872	0.5508|0.5508	4|9	.|0.87932	.|D	.|0	.|.	13.9667|13.9667	0.64213|0.64213	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	.|1;1	.|P48595;B2RC45	.|SPB10_HUMAN;.	R|I	214;187|1	.|ENSP00000238508:M1I	.|ENSP00000238508:M1I	G|M	+|+	1|3	0|0	SERPINB10|SERPINB10	59733727|59733727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.216000|0.216000	0.24613|0.24613	3.722000|3.722000	0.54948|0.54948	1.541000|1.541000	0.49316|0.49316	0.650000|0.650000	0.86243|0.86243	GGA|ATG		0.343	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	Missense_Mutation	20	429	0	0	0	1	0	20	429				
SUPT6H	6830	broad.mit.edu	37	17	27010820	27010820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010820G>A	ENST00000314616.6	+	17	2498	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	739	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGAAGCCAAGGAATATGTCAT	0.493																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2215-2217)Gaa>Aaa		suppressor of Ty 6 homolog (S. cerevisiae)							52.0	53.0	53.0					17																	27010820		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010820G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2215G>A	17.37:g.27010820G>A	ENSP00000319104:p.Glu739Lys					SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	p.E739K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			17	2498	+	Lung NSC(42;0.00431)		739					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.2215G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960195	0.74016	.	.	ENSG00000109111	ENST00000314616	T	0.45276	0.9	5.39	5.39	0.77823	Tex-like domain (1);	0.159904	0.56097	D	0.000037	T	0.38134	0.1029	L	0.42245	1.32	0.58432	D	0.999999	B	0.31893	0.345	B	0.29353	0.101	T	0.12116	-1.0560	10	0.27082	T	0.32	-8.0924	19.2162	0.93780	0.0:0.0:1.0:0.0	.	739	Q7KZ85	SPT6H_HUMAN	K	739	ENSP00000319104:E739K	ENSP00000319104:E739K	E	+	1	0	SUPT6H	24034947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.557000	0.86248	0.650000	0.86243	GAA		0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		44	144	0	0	0	1	0	44	144				
PCGF5	84333	broad.mit.edu	37	10	93011174	93011174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011174C>T	ENST00000336126.5	+	6	683	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AAATAATGGGCAATCAGGGGA	0.323																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(451-453)Caa>Taa		polycomb group ring finger 5							131.0	124.0	126.0					10																	93011174		2203	4299	6502	SO:0001587	stop_gained	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93011174C>T	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.451C>T	10.37:g.93011174C>T	ENSP00000337500:p.Gln151*					PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN			6	683	+			151					B7Z892|D3DR33|Q6PK47|Q86TD0	Nonsense_Mutation	SNP	ENST00000336126.5	37	c.451C>T	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	C	39	7.802879	0.98498	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	.	.	.	6.06	6.06	0.98353	.	0.112587	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-17.7437	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000337500:Q151X	Q	+	1	0	PCGF5	93001154	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	7.174000	0.77620	2.880000	0.98712	0.650000	0.86243	CAA		0.323	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		66	326	0	0	0	1	0	66	326				
PXDN	7837	broad.mit.edu	37	2	1677465	1677465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1677465G>A	ENST00000252804.4	-	9	1018	c.968C>T	c.(967-969)gCc>gTc	p.A323V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	323	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACCTCTCCGGCCACGTTCTT	0.557																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(967-969)gCc>gTc		peroxidasin homolog (Drosophila)							185.0	189.0	188.0					2																	1677465		2098	4229	6327	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677465G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.968C>T	2.37:g.1677465G>A	ENSP00000252804:p.Ala323Val					PXDN_ENST00000483018.1_5'UTR	p.A323V	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	1018	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	323			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.968C>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.07|12.07	1.828350|1.828350	0.32329|0.32329	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.66995|.	-0.24|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50069|0.50069	0.1594|0.1594	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.30664|.	0.095;0.289|.	B;B|.	0.40940|.	0.075;0.344|.	T|T	0.43734|0.43734	-0.9373|-0.9373	10|5	0.33141|.	T|.	0.24|.	-21.0506|-21.0506	17.7383|17.7383	0.88400|0.88400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;323|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|S	323|319	ENSP00000252804:A323V|.	ENSP00000252804:A323V|.	A|P	-|-	2|1	0|0	PXDN|PXDN	1656472|1656472	1.000000|1.000000	0.71417|0.71417	0.529000|0.529000	0.27951|0.27951	0.970000|0.970000	0.65996|0.65996	9.691000|9.691000	0.98679|0.98679	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.557	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		203	642	0	0	0	1	0	203	642				
GDF10	2662	broad.mit.edu	37	10	48428790	48428790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48428790G>A	ENST00000224605.2	-	2	1361	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	366					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGCTTCCTCCGGGCTTTCTGC	0.597																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1096-1098)Cgg>Tgg		growth differentiation factor 10							95.0	81.0	86.0					10																	48428790		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428790G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1096C>T	10.37:g.48428790G>A	ENSP00000224605:p.Arg366Trp						p.R366W	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1361	-			366					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1096C>T	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288797	0.59976	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.79653	-1.29	5.43	1.11	0.20524	Transforming growth factor-beta, C-terminal (1);	0.050803	0.64402	D	0.000001	D	0.86443	0.5934	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83990	0.0337	10	0.87932	D	0	.	6.3463	0.21351	0.144:0.0:0.5155:0.3405	.	176;366	Q8N6T2;P55107	.;BMP3B_HUMAN	W	176;366	ENSP00000224605:R366W	ENSP00000224605:R366W	R	-	1	2	GDF10	48048796	1.000000	0.71417	0.994000	0.49952	0.675000	0.39556	2.333000	0.43912	0.332000	0.23536	0.655000	0.94253	CGG		0.597	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		10	347	0	0	0	1	0	10	347				
SLC25A2	83884	broad.mit.edu	37	5	140682987	140682987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140682987C>T	ENST00000239451.4	-	1	625	c.446G>A	c.(445-447)aGc>aAc	p.S149N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	149					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGTATTATGGCTTTTTGCTAT	0.488																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(445-447)aGc>aAc		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						97.0	102.0	101.0					5																	140682987		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682987C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.446G>A	5.37:g.140682987C>T	ENSP00000239451:p.Ser149Asn						p.S149N	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	625	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	149					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.446G>A	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	9.389	1.075023	0.20227	.	.	ENSG00000120329	ENST00000239451	T	0.79247	-1.25	3.78	2.91	0.33838	Mitochondrial carrier domain (2);	0.514389	0.22545	N	0.058679	T	0.68550	0.3013	L	0.47716	1.5	0.21527	N	0.999656	B	0.20368	0.044	B	0.23018	0.043	T	0.56183	-0.8021	10	0.28530	T	0.3	-21.2554	9.8762	0.41205	0.0:0.8956:0.0:0.1044	.	149	Q9BXI2	ORNT2_HUMAN	N	149	ENSP00000239451:S149N	ENSP00000239451:S149N	S	-	2	0	SLC25A2	140663171	1.000000	0.71417	0.005000	0.12908	0.759000	0.43091	6.595000	0.74109	1.181000	0.42912	0.650000	0.86243	AGC		0.488	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		111	541	0	0	0	1	0	111	541				
PARPBP	55010	broad.mit.edu	37	12	102558319	102558319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102558319G>A	ENST00000358383.5	+	5	644	c.599G>A	c.(598-600)gGa>gAa	p.G200E	PARPBP_ENST00000378128.3_Missense_Mutation_p.G200E|PARPBP_ENST00000541394.1_Missense_Mutation_p.G277E|PARPBP_ENST00000543784.1_Missense_Mutation_p.G86E|PARPBP_ENST00000392911.2_Missense_Mutation_p.G119E|PARPBP_ENST00000327680.2_Missense_Mutation_p.G119E|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	200					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CCTGATAGAGGACTAGGAAGA	0.363																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(355-357)gGa>gAa		PARP1 binding protein							140.0	151.0	147.0					12																	102558319		2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102558319G>A	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.599G>A	12.37:g.102558319G>A	ENSP00000351153:p.Gly200Glu					PARPBP_ENST00000358383.5_Missense_Mutation_p.G200E|PARPBP_ENST00000378128.3_Missense_Mutation_p.G200E|PARPBP_ENST00000392911.2_Missense_Mutation_p.G119E|PARPBP_ENST00000543784.1_Missense_Mutation_p.G86E|PARPBP_ENST00000541394.1_Missense_Mutation_p.G277E|PARPBP_ENST00000535811.1_Intron	p.G119E	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			6	819	+			200					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.356G>A	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342216	0.61073	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.69	5.69	0.88448	.	0.338331	0.35151	N	0.003410	T	0.66218	0.2767	M	0.72894	2.215	0.45452	D	0.998423	B;D;D;P;D;D	0.89917	0.424;1.0;1.0;0.64;1.0;1.0	B;D;D;B;D;D	0.87578	0.111;0.998;0.992;0.221;0.995;0.992	T	0.64659	-0.6355	10	0.48119	T	0.1	-16.5134	19.8169	0.96573	0.0:0.0:1.0:0.0	.	86;277;200;200;200;119	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1;Q9NWS1-2	.;.;.;.;PR1BP_HUMAN;.	E	200;119;277;86;200;119;167;167	ENSP00000367368:G200E;ENSP00000332915:G119E;ENSP00000440850:G277E;ENSP00000444576:G86E;ENSP00000351153:G200E;ENSP00000376643:G119E;ENSP00000411313:G167E;ENSP00000393867:G167E	ENSP00000332915:G119E	G	+	2	0	C12orf48	101082449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.112000	0.50368	2.689000	0.91719	0.460000	0.39030	GGA		0.363	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		164	472	0	0	0	1	0	164	472				
EID3	493861	broad.mit.edu	37	12	104697806	104697806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104697806G>A	ENST00000527879.1	+	1	290	c.94G>A	c.(94-96)Gct>Act	p.A32T	TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAGCTCACCGCTGACGAGGA	0.637																																						ENST00000527879.1																			0				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(94-96)Gct>Act		EP300 interacting inhibitor of differentiation 3							28.0	32.0	31.0					12																	104697806		2120	4222	6342	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104697806G>A	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.94G>A	12.37:g.104697806G>A	ENSP00000435619:p.Ala32Thr					TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000540716.1_Intron	p.A32T	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN			1	290	+			32						Missense_Mutation	SNP	ENST00000527879.1	37	c.94G>A	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376748	0.24857	.	.	ENSG00000255150	ENST00000527879	T	0.44083	0.93	3.8	1.95	0.26073	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.13407	0.009	T	0.17319	-1.0373	9	0.14656	T	0.56	.	6.2809	0.21007	0.2155:0.0:0.7845:0.0	.	32	Q8N140	EID3_HUMAN	T	32	ENSP00000435619:A32T	ENSP00000435619:A32T	A	+	1	0	EID3	103221936	0.048000	0.20356	0.000000	0.03702	0.008000	0.06430	3.731000	0.55013	0.409000	0.25649	0.555000	0.69702	GCT		0.637	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		35	131	0	0	0	1	0	35	131				
HSF5	124535	broad.mit.edu	37	17	56565462	56565462	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56565462G>A	ENST00000323777.3	-	1	283	c.174C>T	c.(172-174)ggC>ggT	p.G58G		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	58					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcccgccaccgccccccggcc	0.716																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(172-174)ggC>ggT		heat shock transcription factor family member 5							6.0	8.0	7.0					17																	56565462		1869	3769	5638	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565462G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.174C>T	17.37:g.56565462G>A							p.G58G	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			1	283	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		58					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.174C>T	CCDS32690.1																																																																																				0.716	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		23	95	0	0	0	1	0	23	95				
AGPAT3	56894	broad.mit.edu	37	21	45402199	45402199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45402199C>T	ENST00000398063.2	+	9	1549	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	353					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R353C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTTTGGAGTTCGCAGACTGAT	0.448																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			1	Substitution - Missense(1)	p.R353C(1)	large_intestine(1)	large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(1057-1059)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 3							146.0	159.0	155.0					21																	45402199		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45402199C>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1057C>T	21.37:g.45402199C>T	ENSP00000381140:p.Arg353Cys					AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C	p.R353C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	9	1549	+			353					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.1057C>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978796	0.92982	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.77557	0.99;0.856	D	0.89582	0.3821	10	0.66056	D	0.02	-20.5082	17.7067	0.88310	0.0:1.0:0.0:0.0	.	373;353	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	353	ENSP00000291572:R353C;ENSP00000381138:R353C;ENSP00000332989:R353C;ENSP00000381140:R353C;ENSP00000381135:R353C;ENSP00000443510:R353C	ENSP00000291572:R353C	R	+	1	0	AGPAT3	44226627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.046000	0.64226	2.409000	0.81822	0.563000	0.77884	CGC		0.448	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		108	832	0	0	0	1	0	108	832				
GNAS	2778	broad.mit.edu	37	20	57415518	57415518	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415518C>T	ENST00000313949.7	+	1	746	c.357C>T	c.(355-357)atC>atT	p.I119I	GNAS_ENST00000371075.3_Silent_p.I119I|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Silent_p.I119I|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGTCCGAAATCGAGTCCGAGA	0.637			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(355-357)atC>atT		GNAS complex locus							102.0	95.0	97.0					20																	57415518		2203	4300	6503	SO:0001819	synonymous_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415518C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.357C>T	20.37:g.57415518C>T		TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Silent_p.I119I|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.I119I|GNAS-AS1_ENST00000443966.1_RNA	p.I119I			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	746	+	all_lung(29;0.0104)		134					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.357C>T	CCDS13471.1																																																																																				0.637	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		97	472	0	0	0	1	0	97	472				
NUP205	23165	broad.mit.edu	37	7	135261869	135261869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135261869G>A	ENST00000285968.6	+	5	667	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	214					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAAAACATCGCAAAGAGGCA	0.373																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(640-642)cGc>cAc		nucleoporin 205kDa							105.0	101.0	102.0					7																	135261869		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135261869G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.641G>A	7.37:g.135261869G>A	ENSP00000285968:p.Arg214His					NUP205_ENST00000440390.2_Intron	p.R214H	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			5	667	+			214					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.641G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421505	0.83559	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15321	-1.0441	10	0.29301	T	0.29	-15.0997	19.6316	0.95708	0.0:0.0:1.0:0.0	.	214	Q92621	NU205_HUMAN	H	214	ENSP00000285968:R214H	ENSP00000285968:R214H	R	+	2	0	NUP205	134912409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	CGC		0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			18	338	0	0	0	1	0	18	338				
TENM3	55714	broad.mit.edu	37	4	183721257	183721257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183721257C>T	ENST00000511685.1	+	28	7976	c.7853C>T	c.(7852-7854)gCg>gTg	p.A2618V	TENM3_ENST00000406950.2_Missense_Mutation_p.A2618V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2618					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAGGAGAAGGCGCGCATCCTG	0.751																																						ENST00000511685.1																			0											c.(7852-7854)gCg>gTg		teneurin transmembrane protein 3							10.0	12.0	12.0					4																	183721257		2109	4220	6329	SO:0001583	missense	55714							g.chr4:183721257C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7853C>T	4.37:g.183721257C>T	ENSP00000424226:p.Ala2618Val					TENM3_ENST00000406950.2_Missense_Mutation_p.A2618V	p.A2618V							28	7976	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.7853C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805680	0.31961	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86562	-2.14;-2.14	4.16	4.16	0.48862	.	.	.	.	.	T	0.76564	0.4005	N	0.11651	0.15	0.58432	D	0.99999	B	0.11235	0.004	B	0.10450	0.005	T	0.70550	-0.4841	9	0.25751	T	0.34	.	16.9951	0.86365	0.0:1.0:0.0:0.0	.	2618	Q9P273	TEN3_HUMAN	V	2618	ENSP00000424226:A2618V;ENSP00000385276:A2618V	ENSP00000385276:A2618V	A	+	2	0	ODZ3	183958251	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.738000	0.62073	2.312000	0.78011	0.455000	0.32223	GCG		0.751	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			17	54	0	0	0	1	0	17	54				
C2orf66	401027	broad.mit.edu	37	2	197672174	197672174	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197672174T>C	ENST00000342506.2	-	2	1235	c.347A>G	c.(346-348)aAa>aGa	p.K116R		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	116						extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						CTTTCAGCCTTTGAGATAATT	0.378																																						ENST00000342506.2																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(346-348)aAa>aGa		chromosome 2 open reading frame 66							68.0	70.0	69.0					2																	197672174		2203	4300	6503	SO:0001583	missense	401027					extracellular region		g.chr2:197672174T>C		CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.347A>G	2.37:g.197672174T>C	ENSP00000339384:p.Lys116Arg						p.K116R	NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN			2	1235	-			116					B2RNW3	Missense_Mutation	SNP	ENST00000342506.2	37	c.347A>G	CCDS2317.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294898	0.23564	.	.	ENSG00000187944	ENST00000342506	.	.	.	4.62	-0.661	0.11417	.	0.528444	0.17118	N	0.186352	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.20174	-1.0283	9	0.24483	T	0.36	-0.8599	5.9745	0.19371	0.0:0.3126:0.1355:0.5519	.	116	Q6UXQ4	CB066_HUMAN	R	116	.	ENSP00000339384:K116R	K	-	2	0	C2orf66	197380419	0.241000	0.23857	0.245000	0.24217	0.299000	0.27559	0.232000	0.17891	-0.011000	0.14247	-0.374000	0.07098	AAA		0.378	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	NM_213608		10	395	0	0	0	1	0	10	395				
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22162127G>T	ENST00000374695.3	-	76	10438	c.10359C>A	c.(10357-10359)atC>atA	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10357-10359)atC>atA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						36.0	35.0	35.0					1																	22162127		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22162127G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10359C>A	1.37:g.22162127G>T							p.I3453I	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	76	10438	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3453			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10359C>A	CCDS30625.1																																																																																				0.502	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		12	141	1	0	3.07112e-06	1	3.16074e-06	12	141				
RP11-383M4.6	0	broad.mit.edu	37	9	84549468	84549468	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84549468G>A	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							GCACAACCCAGAAGTGCAGGT	0.527																																						ENST00000585776.1																			0																																																			0							g.chr9:84549468G>A																													9.37:g.84549468G>A						SPATA31D4_ENST00000341875.4_RNA								0	1039	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.527	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			10	80	0	0	0	1	0	10	80				
NDFIP1	80762	broad.mit.edu	37	5	141511891	141511891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141511891C>A	ENST00000253814.4	+	3	736	c.266C>A	c.(265-267)cCt>cAt	p.P89H	NDFIP1_ENST00000509436.1_Intron	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	89					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTATCCCTTTGGTTCCT	0.423																																						ENST00000253814.4																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(265-267)cCt>cAt		Nedd4 family interacting protein 1							174.0	159.0	164.0					5																	141511891		2203	4300	6503	SO:0001583	missense	80762				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	g.chr5:141511891C>A	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.266C>A	5.37:g.141511891C>A	ENSP00000253814:p.Pro89His					NDFIP1_ENST00000509436.1_Intron	p.P89H	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	736	+		all_hematologic(541;0.0999)	89					B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	37	c.266C>A	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858703	0.91433	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.53	5.53	0.82687	.	0.100365	0.64402	D	0.000001	T	0.79913	0.4528	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80944	-0.1156	9	0.87932	D	0	-15.0688	19.8208	0.96592	0.0:1.0:0.0:0.0	.	89	Q9BT67	NFIP1_HUMAN	H	89	.	ENSP00000253814:P89H	P	+	2	0	NDFIP1	141492075	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.338000	0.79269	2.771000	0.95319	0.591000	0.81541	CCT		0.423	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		118	399	1	0	9.21594e-48	1	1.13546e-47	118	399				
GSTO2	119391	broad.mit.edu	37	10	106037862	106037862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106037862G>A	ENST00000338595.2	+	4	674	c.354G>A	c.(352-354)gaG>gaA	p.E118E	GSTO2_ENST00000369707.2_Silent_p.E90E|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000450629.2_Silent_p.E118E|GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000429569.2_Silent_p.E90E	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	118	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGTTATTGGAGCTATTTTGTA	0.373																																						ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(352-354)gaG>gaA		glutathione S-transferase omega 2	Glutathione(DB00143)						86.0	77.0	80.0					10																	106037862		2203	4300	6503	SO:0001819	synonymous_variant	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106037862G>A	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.354G>A	10.37:g.106037862G>A						GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000369707.1_Silent_p.E90E|GSTO2_ENST00000338595.2_Silent_p.E118E|GSTO2_ENST00000429569.2_Silent_p.E90E	p.E118E	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	4	982	+		Colorectal(252;0.178)	118			GST C-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Silent	SNP	ENST00000338595.2	37	c.354G>A	CCDS7556.1																																																																																				0.373	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		23	128	0	0	0	1	0	23	128				
MAN2B1	4125	broad.mit.edu	37	19	12759192	12759192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12759192C>T	ENST00000456935.2	-	21	2501	c.2461G>A	c.(2461-2463)Gat>Aat	p.D821N	MAN2B1_ENST00000221363.4_Missense_Mutation_p.D820N|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R7Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	821					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGCGTCCATCGTCCTTCAGC	0.667																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2461-2463)Gat>Aat		mannosidase, alpha, class 2B, member 1							31.0	25.0	27.0					19																	12759192		2187	4264	6451	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12759192C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2461G>A	19.37:g.12759192C>T	ENSP00000395473:p.Asp821Asn					MAN2B1_ENST00000221363.4_Missense_Mutation_p.D820N|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R7Q	p.D821N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			21	2501	-			821					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2461G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267364	0.95399	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.90563	-2.69;-2.69	5.61	5.61	0.85477	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.161289	0.29314	N	0.012504	D	0.96886	0.8983	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97833	1.0264	10	0.87932	D	0	-38.297	17.1287	0.86721	0.0:1.0:0.0:0.0	.	820;821	G5E928;O00754	.;MA2B1_HUMAN	N	821;760;820	ENSP00000395473:D821N;ENSP00000221363:D820N	ENSP00000221363:D820N	D	-	1	0	MAN2B1	12620192	1.000000	0.71417	0.042000	0.18584	0.012000	0.07955	6.130000	0.71663	2.634000	0.89283	0.561000	0.74099	GAT		0.667	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			7	221	0	0	0	1	0	7	221				
NIPBL	25836	broad.mit.edu	37	5	37020568	37020568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37020568G>A	ENST00000282516.8	+	26	5517	c.5018G>A	c.(5017-5019)cGt>cAt	p.R1673H	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1673					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGTTTTCTCGTAAATTCTAT	0.343																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(5017-5019)cGt>cAt		Nipped-B homolog (Drosophila)							67.0	62.0	64.0					5																	37020568		2203	4297	6500	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37020568G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5018G>A	5.37:g.37020568G>A	ENSP00000282516:p.Arg1673His					NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		26	5517	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1673					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.5018G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592420	0.86953	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94280	-3.39;-3.39	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.69523	2.12	0.58432	D	0.999998	P;D	0.55385	0.915;0.971	B;P	0.49451	0.406;0.611	D	0.93068	0.6480	10	0.31617	T	0.26	.	19.5885	0.95498	0.0:0.0:1.0:0.0	.	1673;1673	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1673	ENSP00000282516:R1673H;ENSP00000406266:R1673H	ENSP00000282516:R1673H	R	+	2	0	NIPBL	37056325	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.403000	0.73264	2.647000	0.89833	0.585000	0.79938	CGT		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		29	179	0	0	0	1	0	29	179				
CHMP7	91782	broad.mit.edu	37	8	23106877	23106877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23106877G>A	ENST00000397677.1	+	3	1102	c.454G>A	c.(454-456)Gct>Act	p.A152T	CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	152					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGTCCTTGTCGCTGTGGAGCT	0.537																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(454-456)Gct>Act		charged multivesicular body protein 7							59.0	52.0	55.0					8																	23106877		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23106877G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.454G>A	8.37:g.23106877G>A	ENSP00000380794:p.Ala152Thr					CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	p.A152T	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	1102	+		Prostate(55;0.0513)	152					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.454G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122858	0.20959	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57907	0.37;0.37	5.54	3.76	0.43208	.	0.246954	0.41500	D	0.000870	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	P	0.42973	0.796	B	0.27076	0.076	T	0.10382	-1.0632	10	0.36615	T	0.2	-7.9022	4.5343	0.12020	0.2407:0.0:0.6043:0.1551	.	152	Q8WUX9	CHMP7_HUMAN	T	152	ENSP00000380794:A152T;ENSP00000324491:A152T	ENSP00000324491:A152T	A	+	1	0	CHMP7	23162822	1.000000	0.71417	0.167000	0.22817	0.905000	0.53344	4.750000	0.62162	0.718000	0.32166	-0.218000	0.12543	GCT		0.537	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		29	150	0	0	0	1	0	29	150				
CDK7	1022	broad.mit.edu	37	5	68572463	68572463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68572463C>T	ENST00000256443.3	+	11	1061	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	CDK7_ENST00000502604.1_Nonsense_Mutation_p.Q227*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	320					7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CTTAAAGGAGCAATCAAATCC	0.388								Nucleotide excision repair (NER)																														ENST00000502604.1																			0				endometrium(1)|lung(2)	3						c.(679-681)Caa>Taa	Nucleotide excision repair (NER)	cyclin-dependent kinase 7							70.0	72.0	71.0					5																	68572463		2203	4300	6503	SO:0001587	stop_gained	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68572463C>T		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.958C>T	5.37:g.68572463C>T	ENSP00000256443:p.Gln320*					CDK7_ENST00000256443.3_Nonsense_Mutation_p.Q320*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*	p.Q227*			P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	10	1169	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	320			Protein kinase.		Q9BS60|Q9UE19	Nonsense_Mutation	SNP	ENST00000256443.3	37	c.679C>T	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216077	0.95104	.	.	ENSG00000134058	ENST00000256443;ENST00000514676;ENST00000502604	.	.	.	5.3	4.42	0.53409	.	0.303860	0.36134	N	0.002778	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.6503	0.56757	0.0:0.9178:0.0:0.0822	.	.	.	.	X	320;283;227	.	ENSP00000256443:Q320X	Q	+	1	0	CDK7	68608219	0.942000	0.31987	0.776000	0.31678	0.294000	0.27393	2.565000	0.45939	2.636000	0.89361	0.655000	0.94253	CAA		0.388	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		48	251	0	0	0	1	0	48	251				
IGKV1-16	28938	broad.mit.edu	37	2	89399566	89399566	+	RNA	SNP	C	C	T	rs368294225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:89399566C>T	ENST00000479981.1	-	0	163									immunoglobulin kappa variable 1-16																		CTGACTCGCCCGACAAGTGAT	0.493													N|||	1	0.000199681	0.0008	0.0	5008	,	,		12648	0.0		0.0	False		,,,				2504	0.0					ENST00000479981.1																			0															C		0,3770		0,0,1885	130.0	120.0	123.0			-3.8	0.0	2		123	2,8204		0,2,4101	no	intergenic				0,2,5986	TT,TC,CC		0.0244,0.0,0.0167			89399566	2,11974	1885	4103	5988			0							g.chr2:89399566C>T	J00248		2p11.2	2012-02-10			ENSG00000240864	ENSG00000240864		"""Immunoglobulins / IGK locus"""	5732	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV116, L1			OTTHUMG00000151649		2.37:g.89399566C>T														0	163	-									RNA	SNP	ENST00000479981.1	37																																																																																						0.493	IGKV1-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323398.1	NG_000834		11	857	0	0	0	1	0	11	857				
TECTB	6975	broad.mit.edu	37	10	114053768	114053768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053768C>T	ENST00000369422.3	+	6	620	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	207	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TGTTGGGCCACCCCCTCGGCT	0.448																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(619-621)aCc>aTc		tectorin beta							101.0	100.0	100.0					10																	114053768		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114053768C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.620C>T	10.37:g.114053768C>T	ENSP00000358430:p.Thr207Ile						p.T207I	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	6	620	+		Colorectal(252;0.198)	207			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.620C>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960388	0.92791	.	.	ENSG00000119913	ENST00000369422	D	0.86097	-2.07	5.67	5.67	0.87782	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.102794	0.64402	D	0.000003	D	0.93478	0.7919	M	0.88241	2.94	0.58432	D	0.999999	D	0.71674	0.998	D	0.69479	0.964	D	0.94079	0.7342	10	0.87932	D	0	.	18.3222	0.90242	0.0:1.0:0.0:0.0	.	207	Q96PL2	TECTB_HUMAN	I	207	ENSP00000358430:T207I	ENSP00000358430:T207I	T	+	2	0	TECTB	114043758	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.303000	0.72794	2.836000	0.97738	0.655000	0.94253	ACC		0.448	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		46	208	0	0	0	1	0	46	208				
C7orf43	55262	broad.mit.edu	37	7	99754149	99754149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754149C>T	ENST00000316937.3	-	8	1285	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H|C7orf43_ENST00000498638.1_5'UTR|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	367								p.R367H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAACACGGGCGGTCCAAGCG	0.557																																						ENST00000316937.3																			1	Substitution - Missense(1)	p.R367H(1)	endometrium(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1099-1101)cGc>cAc		chromosome 7 open reading frame 43							76.0	74.0	75.0					7																	99754149		2203	4300	6503	SO:0001583	missense	55262							g.chr7:99754149C>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1100G>A	7.37:g.99754149C>T	ENSP00000324741:p.Arg367His					C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H|C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H	p.R367H	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			8	1285	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		367					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.1100G>A	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833326	0.71258	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.55760	0.54;0.5;0.53	5.71	5.71	0.89125	.	0.071085	0.56097	D	0.000030	T	0.53997	0.1831	N	0.19112	0.55	0.45676	D	0.998596	D;D	0.69078	0.991;0.997	P;P	0.55391	0.662;0.775	T	0.59144	-0.7509	10	0.87932	D	0	-17.2422	17.3306	0.87262	0.0:1.0:0.0:0.0	.	135;367	E9PFF9;Q8WVR3	.;CG043_HUMAN	H	98;367;135	ENSP00000396432:R98H;ENSP00000324741:R367H;ENSP00000406326:R135H	ENSP00000324741:R367H	R	-	2	0	C7orf43	99592085	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.133000	0.64764	2.702000	0.92279	0.561000	0.74099	CGC		0.557	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		40	139	0	0	0	1	0	40	139				
CCDC64B	146439	broad.mit.edu	37	16	3078764	3078764	+	Missense_Mutation	SNP	G	G	A	rs376295108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3078764G>A	ENST00000572449.1	-	8	1237	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	CCDC64B_ENST00000389347.4_Missense_Mutation_p.A392V|CCDC64B_ENST00000573514.1_Missense_Mutation_p.A185V			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	392										breast(1)|endometrium(2)|large_intestine(1)	4						GTCTTCCTGCGCCCGCAGCTC	0.667																																						ENST00000573514.1																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(553-555)gCg>gTg		coiled-coil domain containing 64B		G	VAL/ALA	2,4062		0,2,2030	23.0	32.0	29.0		1175	-0.6	0.0	16		29	0,8302		0,0,4151	no	missense	CCDC64B	NM_001103175.1	64	0,2,6181	AA,AG,GG		0.0,0.0492,0.0162	benign	392/509	3078764	2,12364	2032	4151	6183	SO:0001583	missense	146439							g.chr16:3078764G>A	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1175C>T	16.37:g.3078764G>A	ENSP00000459043:p.Ala392Val					CCDC64B_ENST00000572449.1_Missense_Mutation_p.A392V|CCDC64B_ENST00000389347.4_Missense_Mutation_p.A392V	p.A185V			A1A5D9	BICR2_HUMAN			6	2744	-			392					Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	c.554C>T	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274034	0.23221	4.92E-4	0.0	ENSG00000162069	ENST00000389347	T	0.32023	1.47	4.28	-0.618	0.11576	.	0.720818	0.12366	N	0.475230	T	0.16342	0.0393	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18366	-1.0339	10	0.45353	T	0.12	-3.7626	5.0526	0.14516	0.1749:0.0:0.2826:0.5425	.	392	A1A5D9	BICR2_HUMAN	V	392	ENSP00000373998:A392V	ENSP00000373998:A392V	A	-	2	0	CCDC64B	3018765	0.000000	0.05858	0.006000	0.13384	0.239000	0.25481	0.214000	0.17541	-0.176000	0.10707	0.561000	0.74099	GCG		0.667	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			9	12	0	0	0	1	0	9	12				
ARHGAP17	55114	broad.mit.edu	37	16	24931466	24931466	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24931466C>A	ENST00000289968.6	-	20	2700	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	877					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGCAGTGCTCTCGGTATCAT	0.557																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2629-2631)gaG>gaT		Rho GTPase activating protein 17							211.0	202.0	205.0					16																	24931466		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24931466C>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2631G>T	16.37:g.24931466C>A	ENSP00000289968:p.Glu877Asp					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D	p.E877D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	20	2700	-			877					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.2631G>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295147	0.23564	.	.	ENSG00000140750	ENST00000289968;ENST00000303665	T;T	0.36520	1.49;1.25	6.08	-7.63	0.01290	.	0.000000	0.41396	D	0.000890	T	0.51160	0.1658	M	0.65975	2.015	0.33623	D	0.605049	D;D;D;D	0.76494	0.996;0.994;0.998;0.999	D;D;D;D	0.77557	0.987;0.97;0.99;0.987	T	0.66085	-0.6011	10	0.87932	D	0	.	17.2368	0.87001	0.0:0.6168:0.0:0.3832	.	799;877;410;710	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	877;799	ENSP00000289968:E877D;ENSP00000303130:E799D	ENSP00000289968:E877D	E	-	3	2	ARHGAP17	24838967	0.035000	0.19736	0.083000	0.20561	0.012000	0.07955	-1.553000	0.02174	-1.429000	0.01987	-1.631000	0.00782	GAG		0.557	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		140	586	1	0	1.50598e-64	1	1.90284e-64	140	586				
DUSP27	92235	broad.mit.edu	37	1	167097700	167097700	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097700G>T	ENST00000361200.2	+	6	3498	c.3332G>T	c.(3331-3333)aGg>aTg	p.R1111M	DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1111					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGAAGGGAGGTTTGCATCT	0.512																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3331-3333)aGg>aTg		dual specificity phosphatase 27 (putative)							46.0	42.0	43.0					1																	167097700		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097700G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3332G>T	1.37:g.167097700G>T	ENSP00000354483:p.Arg1111Met					DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M	p.R1111M			Q5VZP5	DUS27_HUMAN			6	3498	+			1111					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3332G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207181	0.58343	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.4	4.48	0.54585	.	0.000000	0.56097	D	0.000027	T	0.08537	0.0212	M	0.65975	2.015	0.35471	D	0.7973	D	0.76494	0.999	P	0.61328	0.887	T	0.01018	-1.1479	10	0.87932	D	0	-38.0246	14.5027	0.67732	0.0719:0.0:0.9281:0.0	.	1111	Q5VZP5	DUS27_HUMAN	M	1111	ENSP00000354483:R1111M;ENSP00000271385:R1111M;ENSP00000404874:R1111M	ENSP00000271385:R1111M	R	+	2	0	DUSP27	165364324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.698000	0.37794	2.532000	0.85374	0.549000	0.68633	AGG		0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		26	178	1	0	7.92952e-12	1	8.47903e-12	26	178				
PRRC2B	84726	broad.mit.edu	37	9	134319600	134319600	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134319600C>A	ENST00000357304.4	+	5	553	c.498C>A	c.(496-498)tcC>tcA	p.S166S	PRRC2B_ENST00000405995.1_Silent_p.S166S|PRRC2B_ENST00000458550.1_Silent_p.S166S|PRRC2B_ENST00000372249.1_5'Flank	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	166							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GACTGTTATCCTTCTCTCCCG	0.542																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(496-498)tcC>tcA		proline-rich coiled-coil 2B							65.0	64.0	65.0					9																	134319600		1975	4165	6140	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134319600C>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.498C>A	9.37:g.134319600C>A						PRRC2B_ENST00000405995.1_Silent_p.S166S|PRRC2B_ENST00000458550.1_Silent_p.S166S	p.S166S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			5	553	+			166					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.498C>A	CCDS48044.1																																																																																				0.542	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				35	153	1	0	1.42033e-22	1	1.60844e-22	35	153				
PIK3R1	5295	broad.mit.edu	37	5	67575507	67575507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:67575507C>T	ENST00000521381.1	+	5	1196	c.580C>T	c.(580-582)Cca>Tca	p.P194S	PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	194	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CCTGGACTTACCAAATCCTGT	0.413			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(580-582)Cca>Tca		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						157.0	144.0	149.0					5																	67575507		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67575507C>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.580C>T	5.37:g.67575507C>T	ENSP00000428056:p.Pro194Ser	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S	p.P194S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	5	1196	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	194			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.580C>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883408	0.91740	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.51	5.51	0.81932	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.68317	2.08	0.80722	D	1	P	0.46952	0.887	P	0.45753	0.492	T	0.64820	-0.6317	10	0.66056	D	0.02	-12.4678	19.6101	0.95602	0.0:1.0:0.0:0.0	.	194	P27986	P85A_HUMAN	S	194;194;194;194;96	ENSP00000428056:P194S;ENSP00000429277:P194S;ENSP00000379855:P194S;ENSP00000274335:P194S;ENSP00000428566:P96S	ENSP00000274335:P194S	P	+	1	0	PIK3R1	67611263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.102000	0.71486	2.868000	0.98415	0.557000	0.71058	CCA		0.413	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		104	456	0	0	0	1	0	104	456				
TMEM39A	55254	broad.mit.edu	37	3	119171296	119171296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119171296C>A	ENST00000319172.5	-	4	838	c.418G>T	c.(418-420)Gag>Tag	p.E140*	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	140						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGTTACCTCTGAGATGAGA	0.383																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(418-420)Gag>Tag		transmembrane protein 39A							78.0	73.0	75.0					3																	119171296		2203	4300	6503	SO:0001587	stop_gained	55254					integral to membrane		g.chr3:119171296C>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.418G>T	3.37:g.119171296C>A	ENSP00000326063:p.Glu140*					TMEM39A_ENST00000486159.1_Intron	p.E140*	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	4	838	-			140					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Nonsense_Mutation	SNP	ENST00000319172.5	37	c.418G>T	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	37	6.526548	0.97637	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-9.7115	17.331	0.87264	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000326063:E140X	E	-	1	0	TMEM39A	120653986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.559000	0.86315	0.655000	0.94253	GAG		0.383	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		14	153	1	0	1.5739e-10	1	1.67034e-10	14	153				
IGF2BP3	10643	broad.mit.edu	37	7	23391064	23391064	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391064C>T	ENST00000258729.3	-	6	899	c.543G>A	c.(541-543)agG>agA	p.R181R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	181					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGACCCCTGCCTTGAGGAGC	0.572																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(541-543)agG>agA		insulin-like growth factor 2 mRNA binding protein 3							55.0	54.0	54.0					7																	23391064		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391064C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.543G>A	7.37:g.23391064C>T						IGF2BP3_ENST00000491719.1_5'UTR	p.R181R	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			6	899	-			181					A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.543G>A	CCDS5382.1																																																																																				0.572	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		50	238	0	0	0	1	0	50	238				
KCTD3	51133	broad.mit.edu	37	1	215793638	215793638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793638G>A	ENST00000259154.4	+	18	2420	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	709					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATCTGAGAGAAAGTCTCCT	0.383																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2125-2127)aGa>aAa		potassium channel tetramerization domain containing 3							69.0	75.0	73.0					1																	215793638		2203	4297	6500	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793638G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2126G>A	1.37:g.215793638G>A	ENSP00000259154:p.Arg709Lys					KCTD3_ENST00000495537.1_3'UTR	p.R709K	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2420	+			709					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.2126G>A	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181628	0.21787	.	.	ENSG00000136636	ENST00000259154	T	0.36340	1.26	5.81	4.71	0.59529	.	0.255861	0.42548	D	0.000685	T	0.19725	0.0474	N	0.16307	0.4	0.30987	N	0.721812	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.11179	-1.0598	10	0.10902	T	0.67	-24.209	10.4541	0.44539	0.1984:0.0:0.8016:0.0	.	459;461;707;709	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	K	709	ENSP00000259154:R709K	ENSP00000259154:R709K	R	+	2	0	KCTD3	213860261	0.962000	0.33011	0.952000	0.39060	0.951000	0.60555	1.038000	0.30254	2.750000	0.94351	0.655000	0.94253	AGA		0.383	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		129	379	0	0	0	1	0	129	379				
ZNF28	7576	broad.mit.edu	37	19	53304313	53304313	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304313C>T	ENST00000457749.2	-	4	904	c.785G>A	c.(784-786)cGt>cAt	p.R262H	ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R209H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGAGATCTACGATGGCATGC	0.383																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(625-627)cGt>cAt		zinc finger protein 28							159.0	135.0	143.0					19																	53304313		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304313C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.785G>A	19.37:g.53304313C>T	ENSP00000397693:p.Arg262His					ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R262H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H	p.R209H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1519	-			262					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.626G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	7.070	0.568038	0.13560	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18502	2.42;2.42;2.42;2.42;2.21	1.37	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	L	0.43554	1.36	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.27123	-1.0083	9	0.44086	T	0.13	.	5.9021	0.18972	0.0:0.2984:0.0:0.7016	.	262	P17035	ZNF28_HUMAN	H	209;262;209;209;209	ENSP00000412143:R209H;ENSP00000397693:R262H;ENSP00000353410:R209H;ENSP00000444965:R209H;ENSP00000375661:R209H	ENSP00000353410:R209H	R	-	2	0	ZNF28	57996125	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.473000	0.06615	-0.965000	0.03591	-0.708000	0.03648	CGT		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		97	429	0	0	0	1	0	97	429				
STIP1	10963	broad.mit.edu	37	11	63961682	63961682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63961682G>A	ENST00000305218.4	+	3	388	c.241G>A	c.(241-243)Gct>Act	p.A81T	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000358794.5_Missense_Mutation_p.A128T|STIP1_ENST00000538945.1_Intron	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	81					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAAAGCAGCAGCTCTAGAGTT	0.418																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(382-384)Gct>Act		stress-induced-phosphoprotein 1							118.0	121.0	120.0					11																	63961682		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63961682G>A	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.241G>A	11.37:g.63961682G>A	ENSP00000305958:p.Ala81Thr					STIP1_ENST00000538945.1_Intron|STIP1_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000305218.4_Missense_Mutation_p.A81T	p.A128T			P31948	STIP1_HUMAN			3	935	+			81					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.382G>A	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718011	0.96839	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000543847	T;T;T	0.68025	1.98;1.98;-0.3	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.974	D	0.85372	0.1114	10	0.45353	T	0.12	-15.1911	18.7171	0.91679	0.0:0.0:1.0:0.0	.	81;81	P31948;F5H783	STIP1_HUMAN;.	T	128;81;81	ENSP00000351646:A128T;ENSP00000305958:A81T;ENSP00000442704:A81T	ENSP00000305958:A81T	A	+	1	0	STIP1	63718258	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.139000	0.94554	2.788000	0.95919	0.650000	0.86243	GCT		0.418	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		136	574	0	0	0	1	0	136	574				
CASP10	843	broad.mit.edu	37	2	202065193	202065193	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202065193G>T	ENST00000272879.5	+	6	868				CASP10_ENST00000286186.6_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000374650.3_Nonsense_Mutation_p.G238*|CASP10_ENST00000448480.1_Intron	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TTTAAATGAAGGAGACCGTGG	0.488																																						ENST00000374650.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(712-714)Gga>Tga		caspase 10, apoptosis-related cysteine peptidase							48.0	47.0	48.0					2																	202065193		876	1991	2867	SO:0001627	intron_variant	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202065193G>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.685-3260G>T	2.37:g.202065193G>T						CASP10_ENST00000272879.5_Intron|CASP10_ENST00000286186.6_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000448480.1_Intron	p.G238*			Q92851	CASPA_HUMAN			6	868	+			238					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Nonsense_Mutation	SNP	ENST00000272879.5	37	c.712G>T	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371710	0.24857	.	.	ENSG00000003400	ENST00000374650	.	.	.	0.809	0.809	0.18725	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	4.9033	0.13786	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000363781:G238X	G	+	1	0	CASP10	201773438	0.008000	0.16893	0.004000	0.12327	0.138000	0.21146	0.764000	0.26532	0.718000	0.32166	0.313000	0.20887	GGA		0.488	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		46	125	1	0	3.7052e-28	1	4.30569e-28	46	125				
TNIP2	79155	broad.mit.edu	37	4	2747209	2747209	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2747209C>A	ENST00000315423.7	-	3	707	c.621G>T	c.(619-621)caG>caT	p.Q207H	TNIP2_ENST00000510267.1_Missense_Mutation_p.Q100H|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTTTCTTCCTGCAACTTCT	0.448																																						ENST00000510267.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(298-300)caG>caT		TNFAIP3 interacting protein 2							143.0	123.0	129.0					4																	2747209		2203	4300	6503	SO:0001583	missense	79155					cytosol	protein binding	g.chr4:2747209C>A	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.621G>T	4.37:g.2747209C>A	ENSP00000321203:p.Gln207His					TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Missense_Mutation_p.Q207H|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H	p.Q100H	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	727	-			207						Missense_Mutation	SNP	ENST00000315423.7	37	c.300G>T	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927050	0.34002	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.57752	0.4;0.38;0.93	5.07	3.3	0.37823	.	0.519194	0.20701	N	0.087269	T	0.64627	0.2615	M	0.68593	2.085	0.31082	N	0.7118	D;P	0.76494	0.999;0.8	D;B	0.69654	0.965;0.259	T	0.65697	-0.6105	10	0.72032	D	0.01	-11.7897	6.4389	0.21839	0.0:0.6687:0.1531:0.1782	.	207;207	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	H	100;207;207	ENSP00000427613:Q100H;ENSP00000321203:Q207H;ENSP00000426314:Q207H	ENSP00000321203:Q207H	Q	-	3	2	TNIP2	2717007	1.000000	0.71417	0.176000	0.23000	0.011000	0.07611	3.557000	0.53741	0.511000	0.28236	0.650000	0.86243	CAG		0.448	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		25	131	1	0	9.39395e-14	1	1.01619e-13	25	131				
PTPN14	5784	broad.mit.edu	37	1	214557227	214557227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557227C>T	ENST00000366956.5	-	13	2165	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	657					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCGACTTGAGCGTCATGGCCT	0.682																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1969-1971)acG>acA		protein tyrosine phosphatase, non-receptor type 14							51.0	45.0	47.0					1																	214557227		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557227C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1971G>A	1.37:g.214557227C>T						PTPN14_ENST00000543945.1_3'UTR	p.T657T	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2165	-			657					Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.1971G>A	CCDS1514.1																																																																																				0.682	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		41	220	0	0	0	1	0	41	220				
BEND3	57673	broad.mit.edu	37	6	107390904	107390904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107390904G>T	ENST00000369042.1	-	4	1681	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E	BEND3_ENST00000429433.2_Missense_Mutation_p.D497E			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	497										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGTAGCAGTCATCACGCG	0.672																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1489-1491)gaC>gaA		BEN domain containing 3							31.0	29.0	29.0					6																	107390904		2202	4298	6500	SO:0001583	missense	57673							g.chr6:107390904G>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1491C>A	6.37:g.107390904G>T	ENSP00000358038:p.Asp497Glu					BEND3_ENST00000369042.1_Missense_Mutation_p.D497E	p.D497E	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2140	-			497					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.1491C>A	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741071	0.30865	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	5.06	0.68205	.	0.052952	0.85682	D	0.000000	T	0.16981	0.0408	N	0.11560	0.145	0.38325	D	0.943639	B	0.23316	0.083	B	0.22386	0.039	T	0.07158	-1.0787	9	0.31617	T	0.26	-25.2658	9.3142	0.37924	0.1577:0.0:0.8423:0.0	.	497	Q5T5X7	BEND3_HUMAN	E	497	.	ENSP00000358038:D497E	D	-	3	2	BEND3	107497597	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	0.922000	0.28734	2.625000	0.88918	0.561000	0.74099	GAC		0.672	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		47	234	1	0	2.24722e-20	1	2.51766e-20	47	234				
TNIP3	79931	broad.mit.edu	37	4	122078275	122078275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122078275T>G	ENST00000509841.1	-	7	646	c.568A>C	c.(568-570)Acc>Ccc	p.T190P	TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P|TNIP3_ENST00000454328.1_Missense_Mutation_p.T113P	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGGTCCCGGGTCAGGTCGCGC	0.647																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(337-339)Acc>Ccc		TNFAIP3 interacting protein 3							116.0	134.0	128.0					4																	122078275		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122078275T>G	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.568A>C	4.37:g.122078275T>G	ENSP00000426613:p.Thr190Pro					TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P|TNIP3_ENST00000509841.1_Missense_Mutation_p.T190P	p.T113P			Q96KP6	TNIP3_HUMAN			6	564	-			113						Missense_Mutation	SNP	ENST00000509841.1	37	c.337A>C	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698387	0.48307	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	3.79	-7.58	0.01313	.	2.342090	0.01568	N	0.020440	T	0.59390	0.2190	L	0.60455	1.87	0.09310	N	1	B;B;P	0.43094	0.001;0.002;0.799	B;B;P	0.44990	0.002;0.003;0.466	T	0.64343	-0.6430	10	0.72032	D	0.01	10.3068	7.1203	0.25440	0.0:0.3636:0.4254:0.211	.	183;113;113	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	P	113;113;183;190	ENSP00000057513:T113P;ENSP00000411817:T113P;ENSP00000427106:T183P;ENSP00000426613:T190P	ENSP00000057513:T113P	T	-	1	0	TNIP3	122297725	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.672000	0.05244	-1.505000	0.01807	0.397000	0.26171	ACC		0.647	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		69	1612	0	0	0	1	0	69	1612				
ELAVL2	1993	broad.mit.edu	37	9	23705055	23705055	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23705055G>A	ENST00000397312.2	-	4	622	c.348C>T	c.(346-348)cgC>cgT	p.R116R	ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000380110.4_Silent_p.R145R|ELAVL2_ENST00000380117.1_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	116	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGAACTTGGGCGAGCATAGG	0.398																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(346-348)cgC>cgT		ELAV like neuron-specific RNA binding protein 2							90.0	90.0	90.0					9																	23705055		2203	4300	6503	SO:0001819	synonymous_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23705055G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.348C>T	9.37:g.23705055G>A						ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R|ELAVL2_ENST00000380117.1_Silent_p.R116R|ELAVL2_ENST00000380110.4_Silent_p.R145R	p.R116R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	4	622	-			116			RRM 1.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	c.348C>T	CCDS6515.1																																																																																				0.398	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		85	344	0	0	0	1	0	85	344				
OPRD1	4985	broad.mit.edu	37	1	29189517	29189517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29189517G>A	ENST00000234961.2	+	3	1083	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	281					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCACATCTTCGTCATCGTCTG	0.662																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(841-843)Gtc>Atc		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						30.0	26.0	27.0					1																	29189517		2201	4298	6499	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189517G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.841G>A	1.37:g.29189517G>A	ENSP00000234961:p.Val281Ile						p.V281I	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1083	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	281					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.841G>A	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176654	0.38413	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.36878	1.23	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.135819	0.49916	D	0.000139	T	0.21103	0.0508	N	0.12853	0.265	0.44018	D	0.996737	B	0.19935	0.04	B	0.20184	0.028	T	0.05937	-1.0855	10	0.20046	T	0.44	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	281	P41143	OPRD_HUMAN	I	281;233	ENSP00000234961:V281I	ENSP00000234961:V281I	V	+	1	0	OPRD1	29062104	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.926000	0.70070	2.097000	0.63578	0.462000	0.41574	GTC		0.662	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		25	71	0	0	0	1	0	25	71				
INTS10	55174	broad.mit.edu	37	8	19682423	19682423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19682423C>T	ENST00000397977.3	+	8	1344	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	316					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTCCACCATGCTGGTCTTCTT	0.373																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(946-948)Ctg>Ttg		integrator complex subunit 10							101.0	93.0	96.0					8																	19682423		1886	4104	5990	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19682423C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.946C>T	8.37:g.19682423C>T							p.L316L	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	8	1344	+			316					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.946C>T	CCDS6011.2																																																																																				0.373	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		62	278	0	0	0	1	0	62	278				
ZDBF2	57683	broad.mit.edu	37	2	207170780	207170780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207170780C>T	ENST00000374423.3	+	5	1914	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	510							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACTACCCCCAACAATCTGT	0.413																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1528-1530)Caa>Taa		zinc finger, DBF-type containing 2							143.0	133.0	136.0					2																	207170780		1909	4130	6039	SO:0001587	stop_gained	57683						nucleic acid binding|zinc ion binding	g.chr2:207170780C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1528C>T	2.37:g.207170780C>T	ENSP00000363545:p.Gln510*						p.Q510*	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1914	+			510					Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	c.1528C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735202	0.96865	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.06	-0.121	0.13535	.	1.033700	0.07765	N	0.950725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.6918	0.17833	0.4899:0.4142:0.0:0.0959	.	.	.	.	X	510	.	ENSP00000363545:Q510X	Q	+	1	0	ZDBF2	206879025	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.100000	0.10990	-0.034000	0.13713	0.585000	0.79938	CAA		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		39	235	0	0	0	1	0	39	235				
ACTN2	88	broad.mit.edu	37	1	236902766	236902766	+	Silent	SNP	G	G	A	rs572167559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902766G>A	ENST00000366578.4	+	10	1207	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	ACTN2_ENST00000542672.1_Silent_p.T347T|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	347					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACTTCAACACGCTGCAGACCA	0.597																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1039-1041)acG>acA		actinin, alpha 2							142.0	111.0	122.0					1																	236902766		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902766G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1041G>A	1.37:g.236902766G>A						ACTN2_ENST00000542672.1_Silent_p.T347T|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	p.T347T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1207	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	347					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1041G>A	CCDS1613.1																																																																																				0.597	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		63	326	0	0	0	1	0	63	326				
RHOT2	89941	broad.mit.edu	37	16	721082	721082	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721082G>T	ENST00000315082.4	+	11	862		c.e11-1			NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2						cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCTCGGTGCAGGTTTCCTCTT	0.677																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.e11-1		ras homolog family member T2							68.0	63.0	64.0					16																	721082		2199	4297	6496	SO:0001630	splice_region_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721082G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.749-1G>T	16.37:g.721082G>T								NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			11	862	+		Hepatocellular(780;0.0218)						A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Splice_Site	SNP	ENST00000315082.4	37		CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437089	0.25900	.	.	ENSG00000140983	ENST00000315082	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6718	0.88220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHOT2	661083	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	9.477000	0.97925	2.520000	0.84964	0.561000	0.74099	.		0.677	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769	Intron	11	417	1	0	0.0692343	1	0.0693721	11	417				
NOX5	79400	broad.mit.edu	37	15	69323949	69323949	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69323949C>A	ENST00000388866.3	+	4	458	c.417C>A	c.(415-417)ggC>ggA	p.G139G	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Silent_p.G111G|NOX5_ENST00000260364.5_Silent_p.G121G|NOX5_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000448182.3_Silent_p.G93G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	139	EF-hand 3; atypical; contains an insert of 28 residues. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCAGTGGCTCCATTGACC	0.662																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(361-363)ggC>ggA		NADPH oxidase, EF-hand calcium binding domain 5							36.0	36.0	36.0					15																	69323949		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69323949C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.417C>A	15.37:g.69323949C>A						NOX5_ENST00000530406.2_Silent_p.G111G|NOX5_ENST00000448182.3_Silent_p.G93G|NOX5_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000388866.3_Silent_p.G139G	p.G121G			Q96PH1	NOX5_HUMAN			5	664	+			139			EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.363C>A	CCDS32276.2																																																																																				0.662	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		37	162	1	0	1.836e-18	1	2.03801e-18	37	162				
VCAN	1462	broad.mit.edu	37	5	82817768	82817768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82817768G>A	ENST00000265077.3	+	7	4208	c.3643G>A	c.(3643-3645)Gac>Aac	p.D1215N	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1215	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGTTCAGTAGACAGACTTCA	0.428																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(3643-3645)Gac>Aac		versican							150.0	146.0	147.0					5																	82817768		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817768G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3643G>A	5.37:g.82817768G>A	ENSP00000265077:p.Asp1215Asn					VCAN_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N|VCAN_ENST00000343200.5_Intron	p.D1215N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	4208	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1215			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3643G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219422	0.39201	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.90788	-2.73;-2.63;-2.68	5.65	5.65	0.86999	.	0.092595	0.47093	D	0.000260	D	0.93038	0.7784	M	0.61703	1.905	0.45995	D	0.998803	D;D	0.59767	0.959;0.986	P;P	0.53266	0.647;0.722	D	0.93361	0.6727	10	0.72032	D	0.01	.	19.733	0.96192	0.0:0.0:1.0:0.0	.	1215;1215	P13611-3;P13611	.;CSPG2_HUMAN	N	1215;1215;1167	ENSP00000265077:D1215N;ENSP00000342768:D1215N;ENSP00000425959:D1167N	ENSP00000265077:D1215N	D	+	1	0	VCAN	82853524	1.000000	0.71417	0.166000	0.22797	0.069000	0.16628	4.957000	0.63652	2.665000	0.90641	0.585000	0.79938	GAC		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		12	619	0	0	0	1	0	12	619				
TNXB	7148	broad.mit.edu	37	6	32029210	32029210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32029210G>A	ENST00000375244.3	-	21	7657	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W			P22105	TENX_HUMAN	tenascin XB	2546	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7456-7458)Cgg>Tgg		tenascin XB							104.0	120.0	115.0					6																	32029210		1315	2567	3882	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029210G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7456C>T	6.37:g.32029210G>A	ENSP00000364393:p.Arg2486Trp					TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W	p.R2486W			P22105	TENX_HUMAN			21	7657	-			2546			Fibronectin type-III 17.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7456C>T		.	.	.	.	.	.	.	.	.	.	G	12.14	1.849156	0.32699	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	4.28	2.41	0.29592	.	0.747652	0.11920	N	0.516766	T	0.04182	0.0116	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	P	0.57846	0.828	T	0.35375	-0.9791	10	0.66056	D	0.02	.	2.9097	0.05733	0.1003:0.1816:0.5306:0.1875	.	2486	P22105-3	.	W	2486	ENSP00000364393:R2486W;ENSP00000364396:R2486W	ENSP00000364393:R2486W	R	-	1	2	TNXB	32137188	0.002000	0.14202	0.001000	0.08648	0.114000	0.19823	1.141000	0.31528	0.383000	0.24910	0.591000	0.81541	CGG		0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		37	871	0	0	0	1	0	37	871				
TTN	7273	broad.mit.edu	37	2	179606156	179606156	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179606156G>T	ENST00000591111.1	-	46	11077	c.10853C>A	c.(10852-10854)cCt>cAt	p.P3618H	TTN_ENST00000359218.5_Missense_Mutation_p.P3697H|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P3935H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13924					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)			AGGAGGACAAGGACCTCCCAG	0.458																																						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.(11803-11805)cCt>cAt		titin							162.0	157.0	159.0					2																	179606156		1919	4120	6039	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606156G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10853C>A	2.37:g.179606156G>T	ENSP00000465570:p.Pro3618His					TTN_ENST00000359218.5_Missense_Mutation_p.P3697H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H|TTN_ENST00000591111.1_Missense_Mutation_p.P3618H|TTN-AS1_ENST00000590773.1_RNA	p.P3935H	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)		48	12028	-			3618					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.11804C>A		.	.	.	.	.	.	.	.	.	.	G	9.504	1.103928	0.20632	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61742	0.15;0.09;0.08	5.87	5.87	0.94306	.	.	.	.	.	T	0.53562	0.1804	L	0.49126	1.545	0.27352	N	0.956201	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.49862	-0.8894	9	0.87932	D	0	.	12.6639	0.56830	0.0764:0.0:0.9236:0.0	.	3572;3697;3764	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3572;3764;3697;3572	ENSP00000434586:P3572H;ENSP00000340554:P3764H;ENSP00000352154:P3697H	ENSP00000340554:P3764H	P	-	2	0	TTN	179314401	1.000000	0.71417	0.995000	0.50966	0.441000	0.31987	4.209000	0.58493	2.941000	0.99782	0.655000	0.94253	CCT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		126	718	1	0	2.98534e-63	1	3.76712e-63	126	718				
LAMC1	3915	broad.mit.edu	37	1	183103869	183103869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183103869G>T	ENST00000258341.4	+	23	4181	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1308	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAGATTATGAGGACCTCAGAG	0.403																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(3922-3924)gaG>gaT		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						100.0	111.0	107.0					1																	183103869		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183103869G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3924G>T	1.37:g.183103869G>T	ENSP00000258341:p.Glu1308Asp						p.E1308D	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			23	4181	+			1308			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3924G>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527988	0.44969	.	.	ENSG00000135862	ENST00000258341	T	0.77098	-1.07	5.64	1.6	0.23607	.	0.195971	0.53938	N	0.000060	T	0.64560	0.2609	L	0.54323	1.7	0.44295	D	0.997167	B	0.26318	0.146	B	0.24974	0.057	T	0.48864	-0.8997	10	0.17832	T	0.49	.	3.2277	0.06737	0.4213:0.0:0.4006:0.1781	.	1308	P11047	LAMC1_HUMAN	D	1308	ENSP00000258341:E1308D	ENSP00000258341:E1308D	E	+	3	2	LAMC1	181370492	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.490000	0.22403	0.297000	0.22615	0.655000	0.94253	GAG		0.403	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		9	445	1	0	0.00448238	1	0.00451339	9	445				
TRRAP	8295	broad.mit.edu	37	7	98562313	98562313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98562313C>T	ENST00000359863.4	+	47	7079	c.6870C>T	c.(6868-6870)atC>atT	p.I2290I	TRRAP_ENST00000355540.3_Silent_p.I2272I|TRRAP_ENST00000446306.3_Silent_p.I2271I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2290	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGGCTGATCTCCGTCTTTA	0.512																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(6868-6870)atC>atT		transformation/transcription domain-associated protein							98.0	88.0	92.0					7																	98562313		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98562313C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6870C>T	7.37:g.98562313C>T						TRRAP_ENST00000355540.3_Silent_p.I2272I|TRRAP_ENST00000446306.3_Silent_p.I2271I	p.I2290I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		47	7079	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2290			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.6870C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253478	0.10185	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.17	0.596	0.17496	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	.	5.1622	0.15068	0.1358:0.4366:0.0:0.4276	.	.	.	.	F	2012	.	.	S	+	2	0	TRRAP	98400249	0.993000	0.37304	0.990000	0.47175	0.494000	0.33585	0.338000	0.19858	0.246000	0.21394	-0.793000	0.03317	TCT		0.512	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		88	315	0	0	0	1	0	88	315				
KCTD19	146212	broad.mit.edu	37	16	67360624	67360624	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67360624G>T	ENST00000304372.5	-	0	42				LRRC36_ENST00000329956.6_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19						protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGCGGCTCCAGCAGCGGGCGG	0.756											OREG0023877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23								potassium channel tetramerization domain containing 19							7.0	9.0	8.0					16																	67360624		1788	4011	5799			146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67360624G>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.-14C>A	16.37:g.67360624G>T			OREG0023877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1098			NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	0	42	-		Ovarian(137;0.192)						B4DZ49|Q8N804	Translation_Start_Site	SNP	ENST00000304372.5	37		CCDS42179.1																																																																																				0.756	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		5	118	1	0	0.00198382	1	0.00200138	5	118				
TAX1BP1	8887	broad.mit.edu	37	7	27797740	27797740	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27797740C>T	ENST00000396319.2	+	3	341	c.253C>T	c.(253-255)Cta>Tta	p.L85L	TAX1BP1_ENST00000543117.1_Silent_p.L85L|TAX1BP1_ENST00000409980.1_Silent_p.L85L|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Silent_p.L85L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	85					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CAATTGTGTACTAGCATTCCA	0.388																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(253-255)Cta>Tta		Tax1 (human T-cell leukemia virus type I) binding protein 1							193.0	159.0	170.0					7																	27797740		2203	4300	6503	SO:0001819	synonymous_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27797740C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.253C>T	7.37:g.27797740C>T						TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Silent_p.L85L|TAX1BP1_ENST00000543117.1_Silent_p.L85L|TAX1BP1_ENST00000409980.1_Silent_p.L85L	p.L85L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		3	341	+			85					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	c.253C>T	CCDS5415.1																																																																																				0.388	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		10	357	0	0	0	1	0	10	357				
ERBB4	2066	broad.mit.edu	37	2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212615400G>A	ENST00000342788.4	-	5	896	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	196	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCCCAGCAACGGCCAGTACAG	0.453										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(586-588)Cgt>Tgt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							131.0	112.0	118.0					2																	212615400		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212615400G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.586C>T	2.37:g.212615400G>A	ENSP00000342235:p.Arg196Cys	TSP Lung(8;0.080)				ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C|ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C	p.R196C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	5	896	-		Renal(323;0.06)|Lung NSC(271;0.197)	196			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.586C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206073	0.79127	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.30182	1.54;1.54;1.54	5.58	4.67	0.58626	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.056132	0.64402	D	0.000001	T	0.59729	0.2215	M	0.85945	2.785	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;0.959;1.0;1.0	D;D;P;D;D	0.91635	0.998;0.952;0.737;0.998;0.999	T	0.64093	-0.6488	10	0.51188	T	0.08	.	15.8781	0.79182	0.0:0.0:0.8639:0.136	.	196;196;55;196;196	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	C	196	ENSP00000342235:R196C;ENSP00000403204:R196C;ENSP00000385565:R196C	ENSP00000342235:R196C	R	-	1	0	ERBB4	212323645	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.332000	0.59279	2.625000	0.88918	0.650000	0.86243	CGT		0.453	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		53	249	0	0	0	1	0	53	249				
MARK4	57787	broad.mit.edu	37	19	45762366	45762366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45762366C>T	ENST00000262891.4	+	2	502	c.171C>T	c.(169-171)ggC>ggT	p.G57G	MARK4_ENST00000300843.4_Silent_p.G57G	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	57					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCACGTGGGCAACTACCGCC	0.647																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(169-171)ggC>ggT		MAP/microtubule affinity-regulating kinase 4							44.0	38.0	40.0					19																	45762366		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45762366C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.171C>T	19.37:g.45762366C>T						MARK4_ENST00000262891.4_Silent_p.G57G	p.G57G	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	468	+		all_neural(266;0.224)|Ovarian(192;0.231)	57					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.171C>T	CCDS56097.1																																																																																				0.647	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		28	171	0	0	0	1	0	28	171				
GPR56	9289	broad.mit.edu	37	16	57689823	57689823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57689823C>T	ENST00000388812.4	+	7	1376	c.936C>T	c.(934-936)gtC>gtT	p.V312V	GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000568909.1_Silent_p.V312V|GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000562631.1_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	312					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GTGAGAAGGTCTTGGGGATTG	0.562																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(934-936)gtC>gtT		G protein-coupled receptor 56							130.0	125.0	126.0					16																	57689823		2198	4300	6498	SO:0001819	synonymous_variant	0				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57689823C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.936C>T	16.37:g.57689823C>T						GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000388812.4_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000568909.1_Silent_p.V312V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V	p.V312V			Q9Y653	GPR56_HUMAN			7	1468	+			312					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.936C>T	CCDS32460.1																																																																																				0.562	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			144	679	0	0	0	1	0	144	679				
MLC1	23209	broad.mit.edu	37	22	50502477	50502477	+	Missense_Mutation	SNP	G	G	A	rs551842465		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50502477G>A	ENST00000311597.5	-	11	1651	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	MLC1_ENST00000538737.1_Missense_Mutation_p.R315C|MLC1_ENST00000450140.2_Missense_Mutation_p.R297C|MLC1_ENST00000395876.2_Missense_Mutation_p.R349C|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000535444.1_Missense_Mutation_p.R270C|MLC1_ENST00000431262.2_Missense_Mutation_p.R319C	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	349					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCAGCCAGGCGCTCCTGCGGG	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		10784	0.0		0.0	False		,,,				2504	0.001					ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(1045-1047)Cgc>Tgc		megalencephalic leukoencephalopathy with subcortical cysts 1							28.0	27.0	27.0					22																	50502477		2199	4299	6498	SO:0001583	missense	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50502477G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1045C>T	22.37:g.50502477G>A	ENSP00000310375:p.Arg349Cys					MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000535444.1_Missense_Mutation_p.R270C|MLC1_ENST00000450140.2_Missense_Mutation_p.R297C|MLC1_ENST00000538737.1_Missense_Mutation_p.R315C|MLC1_ENST00000431262.2_Missense_Mutation_p.R319C|MLC1_ENST00000395876.2_Missense_Mutation_p.R349C	p.R349C	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	11	1651	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	349					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.1045C>T	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	g	9.300	1.052744	0.19907	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	3.83	1.72	0.24424	.	0.710008	0.14560	N	0.312126	D	0.87006	0.6070	L	0.51422	1.61	0.09310	N	0.999999	B;B;B;B	0.15473	0.005;0.013;0.01;0.013	B;B;B;B	0.08055	0.002;0.003;0.003;0.003	T	0.78497	-0.2181	10	0.56958	D	0.05	-10.447	5.3505	0.16034	0.259:0.0:0.741:0.0	.	315;319;297;349	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	C	349;349;315;319;270;297	ENSP00000379216:R349C;ENSP00000310375:R349C;ENSP00000445805:R315C;ENSP00000415877:R319C;ENSP00000438910:R270C;ENSP00000412448:R297C	ENSP00000310375:R349C	R	-	1	0	MLC1	48844604	0.392000	0.25229	0.028000	0.17463	0.031000	0.12232	1.399000	0.34566	0.897000	0.36392	0.550000	0.68814	CGC		0.706	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		29	145	0	0	0	1	0	29	145				
IQCJ	654502	broad.mit.edu	37	3	158970563	158970563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158970563T>C	ENST00000451172.1	+	3	227	c.122T>C	c.(121-123)cTc>cCc	p.L41P	IQCJ_ENST00000482126.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.L41P|IQCJ_ENST00000481796.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.L41P|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	41										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			AAGTATCCCCTCAATCTACAG	0.338																																						ENST00000485419.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(121-123)cTc>cCc									89.0	86.0	87.0					3																	158970563		1833	4091	5924	SO:0001583	missense	0					cytoplasm	identical protein binding|protein binding	g.chr3:158970563T>C	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.122T>C	3.37:g.158970563T>C	ENSP00000402153:p.Leu41Pro					IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.L41P|IQCJ_ENST00000481796.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.L41P|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000482126.1_Intron	p.L41P	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN			3	291	+			0			Ser-rich.		B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	c.122T>C	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565006	0.65651	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000214216;ENSG00000214216	ENST00000471575;ENST00000485419;ENST00000483486;ENST00000488898;ENST00000397832;ENST00000451172	T	0.37752	1.18	5.66	5.66	0.87406	.	0.139013	0.28376	U	0.015570	T	0.45478	0.1344	L	0.29908	0.895	0.80722	D	1	P;D;D	0.89917	0.95;1.0;0.99	P;D;P	0.76575	0.776;0.988;0.839	T	0.46843	-0.9162	10	0.87932	D	0	.	9.406	0.38462	0.0:0.0804:0.0:0.9196	.	41;41;41	Q9P0W5-5;Q1A5X6;Q1A5X6-2	.;IQCJ_HUMAN;.	P	41;41;41;12;41;41	ENSP00000420182:L41P	ENSP00000380932:L41P	L	+	2	0	IQCJ-SCHIP1;IQCJ	160453257	0.348000	0.24861	1.000000	0.80357	0.985000	0.73830	1.824000	0.39072	2.153000	0.67306	0.460000	0.39030	CTC		0.338	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		21	75	0	0	0	1	0	21	75				
MFF	56947	broad.mit.edu	37	2	228205077	228205077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228205077C>T	ENST00000353339.3	+	6	940	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000349901.7_Silent_p.L141L|MFF_ENST00000354503.6_Silent_p.L141L|MFF_ENST00000304593.9_Silent_p.L141L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	167					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAATGGACAGCTGGTCAGAAA	0.388																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(499-501)Ctg>Ttg		mitochondrial fission factor							85.0	78.0	81.0					2																	228205077		2203	4300	6503	SO:0001819	synonymous_variant	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228205077C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.499C>T	2.37:g.228205077C>T						MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.L141L|MFF_ENST00000304593.9_Silent_p.L141L|MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000354503.6_Silent_p.L141L	p.L167L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			6	940	+			167					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	c.499C>T	CCDS2465.1																																																																																				0.388	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		47	147	0	0	0	1	0	47	147				
ZNF264	9422	broad.mit.edu	37	19	57723439	57723439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57723439G>A	ENST00000263095.6	+	4	1388	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAAGTCTTTCGACATAGGCCA	0.493																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(973-975)cGa>cAa		zinc finger protein 264							72.0	73.0	73.0					19																	57723439		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723439G>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.974G>A	19.37:g.57723439G>A	ENSP00000263095:p.Arg325Gln					ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	p.R325Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1388	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	325					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.974G>A	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761333	0.31228	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.18338	2.22;2.22	2.26	0.026	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29093	0.0723	L	0.53729	1.69	0.22610	N	0.998931	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	9	0.36615	T	0.2	.	4.9234	0.13882	0.4825:0.0:0.5175:0.0	.	325	O43296	ZN264_HUMAN	Q	325	ENSP00000263095:R325Q;ENSP00000440376:R325Q	ENSP00000263095:R325Q	R	+	2	0	ZNF264	62415251	0.000000	0.05858	0.100000	0.21137	0.674000	0.39518	0.312000	0.19397	0.084000	0.17077	-0.339000	0.08088	CGA		0.493	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			59	258	0	0	0	1	0	59	258				
SCN8A	6334	broad.mit.edu	37	12	52115445	52115445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52115445C>T	ENST00000354534.6	+	12	1929	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	584					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AATGAGTTCGCGGATGACGAG	0.672																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1750-1752)gCg>gTg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						12.0	18.0	16.0					12																	52115445		1991	4164	6155	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52115445C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1751C>T	12.37:g.52115445C>T	ENSP00000346534:p.Ala584Val					SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V	p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	12	1929	+			584					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1751C>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853357	0.91355	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	3.83	3.83	0.44106	Domain of unknown function DUF3451 (1);	0.125201	0.53938	D	0.000057	D	0.98966	0.9648	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.999;1.0	D;D;D;D	0.97110	0.915;0.944;0.972;1.0	D	0.99414	1.0931	10	0.72032	D	0.01	.	16.3045	0.82842	0.0:1.0:0.0:0.0	.	584;584;584;584	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	V	584;584;584;584;497;382	ENSP00000448415:A584V;ENSP00000346534:A584V;ENSP00000440360:A584V;ENSP00000347255:A584V;ENSP00000447567:A382V	ENSP00000346534:A584V	A	+	2	0	SCN8A	50401712	1.000000	0.71417	0.975000	0.42487	0.818000	0.46254	7.595000	0.82710	2.136000	0.66102	0.467000	0.42956	GCG		0.672	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		23	73	0	0	0	1	0	23	73				
QRICH1	54870	broad.mit.edu	37	3	49065268	49065268	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49065268G>A	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.R136W	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAACCATGCCGGGCCTTGGCC	0.547																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(406-408)Cgg>Tgg		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						64.0	62.0	63.0					3																	49065268		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49065268G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065268G>A							p.R136W	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	445	-			136			CBS 1.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.406C>T	CCDS2787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.441663|3.441663	0.63067|0.63067	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000537036;ENST00000326739;ENST00000442157	.|D;D	.|0.94046	.|-3.34;-3.34	5.83|5.83	3.8|3.8	0.43715|0.43715	.|Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	.|0.051772	.|0.85682	.|D	.|0.000000	D|D	0.97049|0.97049	0.9036|0.9036	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.62382	.|0.901	D|D	0.98283|0.98283	1.0509|1.0509	5|10	.|0.87932	.|D	.|0	-10.5572|-10.5572	16.1773|16.1773	0.81862|0.81862	0.0:0.0:0.7394:0.2606|0.0:0.0:0.7394:0.2606	.|.	.|136	.|P12268	.|IMDH2_HUMAN	L|W	67|136;136;111	.|ENSP00000321584:R136W;ENSP00000403502:R111W	.|ENSP00000321584:R136W	P|R	-|-	2|1	0|2	IMPDH2|IMPDH2	49040272|49040272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.209000|3.209000	0.51122|0.51122	1.404000|1.404000	0.46819|0.46819	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.547	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		60	228	0	0	0	1	0	60	228				
NYAP1	222950	broad.mit.edu	37	7	100086087	100086087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100086087C>T	ENST00000300179.2	+	4	902	c.743C>T	c.(742-744)gCg>gTg	p.A248V	NYAP1_ENST00000454988.1_Missense_Mutation_p.A191V|NYAP1_ENST00000423930.1_Missense_Mutation_p.A248V	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	248					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACCCCTCCAGCGGGCGCCGAC	0.652																																						ENST00000423930.1																			0											c.(742-744)gCg>gTg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							20.0	27.0	25.0					7																	100086087		2170	4262	6432	SO:0001583	missense	222950							g.chr7:100086087C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.743C>T	7.37:g.100086087C>T	ENSP00000300179:p.Ala248Val					NYAP1_ENST00000300179.2_Missense_Mutation_p.A248V|NYAP1_ENST00000454988.1_Missense_Mutation_p.A191V	p.A248V			Q6ZVC0	CG051_HUMAN			4	902	+			248					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.743C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323825	0.24080	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31769	1.48;1.48;1.48	4.62	3.74	0.42951	.	0.127728	0.35708	N	0.003035	T	0.18045	0.0433	L	0.34521	1.04	0.36204	D	0.850928	P;B	0.39601	0.68;0.049	B;B	0.27887	0.084;0.024	T	0.20240	-1.0281	10	0.33940	T	0.23	-3.4212	10.5394	0.45024	0.0:0.9046:0.0:0.0954	.	191;248	C9JS30;Q6ZVC0	.;CG051_HUMAN	V	248;248;191	ENSP00000300179:A248V;ENSP00000411861:A248V;ENSP00000394424:A191V	ENSP00000300179:A248V	A	+	2	0	C7orf51	99924023	0.102000	0.21896	0.818000	0.32626	0.562000	0.35680	2.131000	0.42074	1.170000	0.42753	0.407000	0.27541	GCG		0.652	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		11	428	0	0	0	1	0	11	428				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977944	53977944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:53977944C>A	ENST00000263634.3	-	3	465	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Nonsense_Mutation_p.E149*|ASB3_ENST00000406625.2_Nonsense_Mutation_p.E146*|GPR75-ASB3_ENST00000406687.1_Nonsense_Mutation_p.E38*|GPR75-ASB3_ENST00000394717.2_Nonsense_Mutation_p.E38*|ASB3_ENST00000498475.2_Intron	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		GTCGTTTCTTCTAAAGTAGTT	0.353																																						ENST00000263634.3																			0											c.(331-333)Gaa>Taa									113.0	114.0	114.0					2																	53977944		2203	4300	6503	SO:0001587	stop_gained	0				intracellular signal transduction			g.chr2:53977944C>A		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.331G>T	2.37:g.53977944C>A	ENSP00000263634:p.Glu111*					GPR75-ASB3_ENST00000394717.2_Nonsense_Mutation_p.E38*|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Nonsense_Mutation_p.E149*|ASB3_ENST00000406625.2_Nonsense_Mutation_p.E146*|GPR75-ASB3_ENST00000406687.1_Nonsense_Mutation_p.E38*	p.E111*	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			3	465	-			146						Nonsense_Mutation	SNP	ENST00000263634.3	37	c.331G>T	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.418976|5.418976	0.96092|0.96092	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049|ENST00000406053	.|.	.|.	.|.	5.54|5.54	4.67|4.67	0.58626|0.58626	.|.	0.053902|.	0.64402|.	D|.	0.000001|.	.|T	.|0.65144	.|0.2663	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71484	.|-0.4579	.|3	0.18710|.	T|.	0.47|.	-10.4489|-10.4489	14.4565|14.4565	0.67420|0.67420	0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717	.|.	.|.	.|.	.|.	X|I	111;146;38;38;149;111|103	.|.	ENSP00000263634:E111X|.	E|R	-|-	1|2	0|0	ASB3|ASB3	53831448|53831448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.010000|3.010000	0.49559|0.49559	1.486000|1.486000	0.48398|0.48398	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.353	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			51	322	1	0	1.0331e-37	1	1.24184e-37	51	322				
SACS	26278	broad.mit.edu	37	13	23905023	23905023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905023C>T	ENST00000382292.3	-	9	13265	c.12992G>A	c.(12991-12993)cGg>cAg	p.R4331Q	SACS_ENST00000382298.3_Missense_Mutation_p.R4331Q|SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4331	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.		R -> Q (in SACS). {ECO:0000269|PubMed:18465152}.		cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAATACAACCGCCTAATAAT	0.353																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12991-12993)cGg>cAg		spastic ataxia of Charlevoix-Saguenay (sacsin)							111.0	121.0	118.0					13																	23905023		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905023C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12992G>A	13.37:g.23905023C>T	ENSP00000371729:p.Arg4331Gln					SACS_ENST00000382292.3_Missense_Mutation_p.R4331Q|SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q	p.R4331Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13580	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4331		R -> Q (in SACS).	J.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12992G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	33	5.263552	0.95399	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.83335	-1.71;-1.71;-1.71	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	L	0.39397	1.21	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.88950	0.3386	10	0.87932	D	0	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	4331	Q9NZJ4	SACS_HUMAN	Q	4331;3581;4331	ENSP00000371729:R4331Q;ENSP00000385844:R3581Q;ENSP00000371735:R4331Q	ENSP00000371729:R4331Q	R	-	2	0	SACS	22803023	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.814000	0.86154	2.746000	0.94184	0.563000	0.77884	CGG		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		131	843	0	0	0	1	0	131	843				
CNR1	1268	broad.mit.edu	37	6	88853707	88853707	+	Silent	SNP	C	C	T	rs149238893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88853707C>T	ENST00000537554.1	-	2	4849	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CNR1_ENST00000549890.1_Silent_p.S429S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000468898.1_Silent_p.S396S|CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000549716.1_Silent_p.S368S|CNR1_ENST00000535130.1_Silent_p.S429S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	429					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCAGGCAGTCCGAGTCCCCCA	0.547																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1285-1287)tcG>tcA		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	C	,,,,	0,4406		0,0,2203	191.0	173.0	179.0		1287,1287,1287,1287,1188	-3.5	0.9	6	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNR1	NM_001160226.1,NM_001160258.1,NM_001160259.1,NM_016083.4,NM_033181.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	429/473,429/473,429/473,429/473,396/440	88853707	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853707C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1287G>A	6.37:g.88853707C>T						CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000468898.1_Silent_p.S396S|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000549716.1_Silent_p.S368S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000535130.1_Silent_p.S429S|CNR1_ENST00000549890.1_Silent_p.S429S	p.S429S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4849	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	429					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.1287G>A	CCDS5015.1																																																																																				0.547	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			13	804	0	0	0	1	0	13	804				
N4BP2L2	10443	broad.mit.edu	37	13	33017909	33017909	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017909C>A	ENST00000504114.1	-	6	811	c.720G>T	c.(718-720)aaG>aaT	p.K240N	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.K240N|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K255N			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TATCACCTTCCTTAGAGAGGT	0.338																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(718-720)aaG>aaT		NEDD4 binding protein 2-like 2							91.0	86.0	88.0					13																	33017909		1858	4098	5956	SO:0001583	missense	10443							g.chr13:33017909C>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.720G>T	13.37:g.33017909C>A	ENSP00000427477:p.Lys240Asn					N4BP2L2_ENST00000504114.1_Missense_Mutation_p.K240N|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K255N	p.K240N	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	824	-		Lung SC(185;0.0262)	0					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.720G>T		.	.	.	.	.	.	.	.	.	.	C	15.62	2.888745	0.52014	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.47869	0.83	5.34	-5.43	0.02632	.	3.025590	0.00718	N	0.000868	T	0.57359	0.2048	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.63880	0.985;0.985;0.993;0.985	P;P;P;P	0.59889	0.62;0.62;0.865;0.775	T	0.59963	-0.7355	10	0.34782	T	0.22	-6.4438	9.3972	0.38410	0.1187:0.1481:0.0:0.7332	.	240;255;138;138	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	N	138;167;240;240;255;684	ENSP00000423362:K684N	ENSP00000350104:K240N	K	-	3	2	N4BP2L2;RP11-298P3.4	31915909	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.012000	0.12699	-1.080000	0.03109	-0.140000	0.14226	AAG		0.338	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		5	88	1	0	5.9392e-07	1	6.14895e-07	5	88				
DOCK7	85440	broad.mit.edu	37	1	62941521	62941521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62941521G>A	ENST00000340370.5	-	45	5742	c.5725C>T	c.(5725-5727)Cga>Tga	p.R1909*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R1929*|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1940	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACATGAATCGACGAAGATTG	0.403																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(5785-5787)Cga>Tga		dedicator of cytokinesis 7							167.0	161.0	163.0					1																	62941521		2203	4299	6502	SO:0001587	stop_gained	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62941521G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5725C>T	1.37:g.62941521G>A	ENSP00000340742:p.Arg1909*					DOCK7_ENST00000340370.5_Nonsense_Mutation_p.R1909*|DOCK7_ENST00000489185.1_5'UTR	p.R1929*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			45	5818	-			1940			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	c.5785C>T	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.097485|13.097485	0.99719|0.99719	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79598	.|0.4473	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77768	.|-0.2464	.|3	0.02654|.	T|.	1|.	.|.	19.6764|19.6764	0.95936|0.95936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1940;1929;1909;670|1102	.|.	ENSP00000251157:R1929X|.	R|S	-|-	1|2	2|0	DOCK7|DOCK7	62714109|62714109	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.922000|0.922000	0.55478|0.55478	8.004000|8.004000	0.88535|0.88535	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.403	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		55	486	0	0	0	1	0	55	486				
MSR1	4481	broad.mit.edu	37	8	16026334	16026334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026334G>A	ENST00000262101.5	-	4	384	c.263C>T	c.(262-264)aCt>aTt	p.T88I	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000445506.2_Missense_Mutation_p.T106I|MSR1_ENST00000350896.3_Missense_Mutation_p.T88I|MSR1_ENST00000381998.4_Missense_Mutation_p.T88I			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	88	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTGCATTAGTTGAACTAAC	0.378																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(262-264)aCt>aTt		macrophage scavenger receptor 1							163.0	152.0	156.0					8																	16026334		2203	4300	6503	SO:0001583	missense	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026334G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.263C>T	8.37:g.16026334G>A	ENSP00000262101:p.Thr88Ile					MSR1_ENST00000445506.2_Missense_Mutation_p.T106I|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000381998.4_Missense_Mutation_p.T88I|MSR1_ENST00000262101.5_Missense_Mutation_p.T88I|MSR1_ENST00000536385.1_Intron	p.T88I	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	460	-			88			Spacer (Probable).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.263C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.332970	0.01298	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.89681	-0.59;-1.97;-0.59;-0.59;-2.55	4.44	-6.07	0.02158	.	1.747220	0.02794	N	0.122370	T	0.72614	0.3482	N	0.02916	-0.46	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.64002	-0.6509	10	0.24483	T	0.36	.	9.7211	0.40304	0.2402:0.1439:0.6159:0.0	.	106;88;88;88	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	I	88;88;106;88;88	ENSP00000262100:T88I;ENSP00000262101:T88I;ENSP00000405453:T106I;ENSP00000347430:T88I;ENSP00000371428:T88I	ENSP00000262101:T88I	T	-	2	0	MSR1	16070705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.339000	0.07832	-1.113000	0.02981	-0.355000	0.07637	ACT		0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			98	420	0	0	0	1	0	98	420				
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	C	T	rs187392843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179442498C>T	ENST00000591111.1	-	273	63956	c.63732G>A	c.(63730-63732)tcG>tcA	p.S21244S	TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.S22885S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21244	Fibronectin type-III 54. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TCCAAGACTTCGAAGGTAGAT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		19969	0.0		0.001	False		,,,				2504	0.0					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.(68653-68655)tcG>tcA		titin							161.0	141.0	148.0					2																	179442498		1921	4136	6057	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442498C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63732G>A	2.37:g.179442498C>T						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.S22885S	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)		323	68879	-			21244			Fibronectin type-III 66.		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.68655G>A																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		99	234	0	0	0	1	0	99	234				
CFTR	1080	broad.mit.edu	37	7	117304863	117304863	+	Missense_Mutation	SNP	G	G	A	rs397508669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117304863G>A	ENST00000003084.6	+	25	4217	c.4085G>A	c.(4084-4086)aGt>aAt	p.S1362N	CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1362	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCTGTTCTCAGTAAGGCGAAG	0.473									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(4084-4086)aGt>aAt		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						239.0	201.0	214.0					7																	117304863		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117304863G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4085G>A	7.37:g.117304863G>A	ENSP00000003084:p.Ser1362Asn					CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	p.S1362N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		25	4217	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1362			ABC transporter 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.4085G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064717	0.93898	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93547	-3.24;-3.24;-3.24	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.034897	0.85682	D	0.000000	D	0.93582	0.7951	L	0.31926	0.97	0.80722	D	1	P	0.34743	0.466	P	0.48166	0.569	D	0.91839	0.5482	10	0.46703	T	0.11	-7.325	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1362	P13569	CFTR_HUMAN	N	1362;1301;1332	ENSP00000003084:S1362N;ENSP00000403677:S1301N;ENSP00000389119:S1332N	ENSP00000003084:S1362N	S	+	2	0	CFTR	117092099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.448000	0.80631	2.941000	0.99782	0.655000	0.94253	AGT		0.473	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		33	506	0	0	0	1	0	33	506				
S1PR5	53637	broad.mit.edu	37	19	10625429	10625429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10625429C>T	ENST00000439028.3	-	2	384	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	87					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GCGTAGGCGGCGCCTGCCAGC	0.662																																						ENST00000439028.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(259-261)Gcc>Acc		sphingosine-1-phosphate receptor 5							25.0	23.0	24.0					19																	10625429		2194	4297	6491	SO:0001583	missense	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625429C>T	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.259G>A	19.37:g.10625429C>T	ENSP00000416915:p.Ala87Thr					S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	p.A87T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	384	-			87					Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	c.259G>A	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	c	18.29	3.591210	0.66219	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.35973	1.28;1.28	4.14	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.527108	0.17544	N	0.170432	T	0.25344	0.0616	N	0.20986	0.625	0.28383	N	0.919465	P	0.48407	0.91	B	0.42798	0.398	T	0.05099	-1.0906	10	0.33141	T	0.24	.	10.8097	0.46540	0.0:0.9041:0.0:0.0959	.	87	Q9H228	S1PR5_HUMAN	T	87	ENSP00000416915:A87T;ENSP00000328472:A87T	ENSP00000328472:A87T	A	-	1	0	S1PR5	10486429	0.010000	0.17322	0.974000	0.42286	0.462000	0.32619	0.594000	0.24014	0.947000	0.37659	0.306000	0.20318	GCC		0.662	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		17	112	0	0	0	1	0	17	112				
CDK5RAP1	51654	broad.mit.edu	37	20	31979986	31979986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31979986C>T	ENST00000357886.4	-	5	659	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R79Q|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	169	MTTase N-terminal.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGAGCGGGGCCGCCTTGTCTT	0.458																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(505-507)cGg>cAg		CDK5 regulatory subunit associated protein 1							83.0	87.0	86.0					20																	31979986		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31979986C>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.506G>A	20.37:g.31979986C>T	ENSP00000350558:p.Arg169Gln					CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R79Q	p.R169Q			Q96SZ6	CK5P1_HUMAN			5	659	-			169			MTTase N-terminal.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.506G>A		.	.	.	.	.	.	.	.	.	.	C	24.1	4.491772	0.84962	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	5.19	5.19	0.71726	Methylthiotransferase, N-terminal (2);	0.110167	0.64402	D	0.000013	T	0.81245	0.4782	M	0.84773	2.715	0.58432	D	0.999993	B;D;P;P;P;D;P	0.89917	0.256;1.0;0.955;0.955;0.955;0.976;0.857	B;D;B;B;B;B;B	0.83275	0.232;0.996;0.427;0.427;0.427;0.301;0.197	D	0.83688	0.0175	9	0.66056	D	0.02	-18.9715	16.238	0.82389	0.0:1.0:0.0:0.0	.	169;169;169;169;169;169;79	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	Q	169;169;169;79;59;169	.	ENSP00000341840:R169Q	R	-	2	0	CDK5RAP1	31443647	1.000000	0.71417	0.887000	0.34795	0.970000	0.65996	5.288000	0.65651	2.702000	0.92279	0.591000	0.81541	CGG		0.458	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		70	422	0	0	0	1	0	70	422				
OLIG3	167826	broad.mit.edu	37	6	137814750	137814750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814750G>A	ENST00000367734.2	-	1	781	c.558C>T	c.(556-558)ggC>ggT	p.G186G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	186					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGAGCGCGCCGCCCAAGATGG	0.726																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(556-558)ggC>ggT		oligodendrocyte transcription factor 3							15.0	18.0	17.0					6																	137814750		2195	4285	6480	SO:0001819	synonymous_variant	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814750G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.558C>T	6.37:g.137814750G>A							p.G186G	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	781	-	Breast(32;0.165)|Colorectal(23;0.24)		186					Q8N8Q0	Silent	SNP	ENST00000367734.2	37	c.558C>T	CCDS5186.1																																																																																				0.726	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		12	102	0	0	0	1	0	12	102				
ROBO4	54538	broad.mit.edu	37	11	124765734	124765734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765734G>A	ENST00000306534.3	-	5	1239	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	252	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGGATCCGGGTTCAGCAGT	0.597																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(754-756)Ccg>Tcg		roundabout, axon guidance receptor, homolog 4 (Drosophila)							75.0	76.0	76.0					11																	124765734		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765734G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.754C>T	11.37:g.124765734G>A	ENSP00000304945:p.Pro252Ser					ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S|ROBO4_ENST00000526899.1_5'UTR	p.P252S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	5	1239	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	252			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.754C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789721	0.16258	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.65364	-0.15;0.24	4.96	2.95	0.34219	Fibronectin, type III (2);	0.000000	0.38663	N	0.001609	T	0.46737	0.1408	L	0.51422	1.61	0.09310	N	1	P;P	0.44734	0.763;0.842	B;B	0.36959	0.173;0.237	T	0.36986	-0.9725	10	0.30078	T	0.28	.	5.3735	0.16152	0.1024:0.0:0.685:0.2125	.	142;252	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	S	252;142;107	ENSP00000304945:P252S;ENSP00000437129:P107S	ENSP00000304945:P252S	P	-	1	0	ROBO4	124270944	0.999000	0.42202	0.949000	0.38748	0.042000	0.13812	1.314000	0.33597	1.324000	0.45282	0.561000	0.74099	CCG		0.597	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		76	314	0	0	0	1	0	76	314				
IL1RAP	3556	broad.mit.edu	37	3	190326890	190326890	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190326890T>C	ENST00000412504.2	+	4	709	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	153	Ig-like C2-type 2.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTATATAGAATATGGCATTCA	0.378																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(457-459)Tat>Cat		interleukin 1 receptor accessory protein							109.0	107.0	107.0					3																	190326890		2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190326890T>C	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.457T>C	3.37:g.190326890T>C	ENSP00000412053:p.Tyr153His					IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H	p.Y153H			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	4	709	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		153			Ig-like C2-type 2.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.457T>C	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	T	1.520	-0.547035	0.04024	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	T;T;T;T;T;T;T;T;T	0.08984	5.29;4.99;5.29;5.29;5.29;3.22;3.03;3.22;4.99	5.58	-6.72	0.01755	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.236230	0.05267	N	0.516779	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.003;0.002	T	0.43686	-0.9376	10	0.19147	T	0.46	.	3.3556	0.07168	0.1005:0.3567:0.3054:0.2374	.	12;153;153;153	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;.;IL1AP_HUMAN;.	H	153;153;153;153;153;153;12;153;153	ENSP00000072516:Y153H;ENSP00000408893:Y153H;ENSP00000412053:Y153H;ENSP00000401132:Y153H;ENSP00000390541:Y153H;ENSP00000409352:Y153H;ENSP00000391899:Y12H;ENSP00000387371:Y153H;ENSP00000314807:Y153H	ENSP00000072516:Y153H	Y	+	1	0	IL1RAP	191809584	0.551000	0.26497	0.025000	0.17156	0.060000	0.15804	-0.245000	0.08890	-0.731000	0.04862	-0.263000	0.10527	TAT		0.378	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			70	333	0	0	0	1	0	70	333				
EML3	256364	broad.mit.edu	37	11	62373565	62373565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373565C>T	ENST00000394773.2	-	13	1933	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	EML3_ENST00000531557.1_Silent_p.G325G|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000529309.1_Silent_p.G542G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Silent_p.G543G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	542						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAACCCGGGCCCCCACTGTA	0.637																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1624-1626)ggG>ggA		echinoderm microtubule associated protein like 3							50.0	68.0	62.0					11																	62373565		2202	4297	6499	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62373565C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1626G>A	11.37:g.62373565C>T						EML3_ENST00000529309.1_Silent_p.G542G|EML3_ENST00000278845.4_Silent_p.G543G|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.G325G	p.G542G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			13	1933	-			542					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1626G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054592	0.19907	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.25	3.26	0.37387	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	4	.	.	.	-19.5332	6.4573	0.21936	0.0:0.7179:0.1841:0.098	.	.	.	.	T	537	.	.	A	-	1	0	EML3	62130141	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	0.880000	0.28159	1.208000	0.43306	0.467000	0.42956	GCC		0.637	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		175	982	0	0	0	1	0	175	982				
AIRE	326	broad.mit.edu	37	21	45713671	45713671	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713671G>T	ENST00000291582.5	+	11	1405		c.e11-1		AIRE_ENST00000355347.4_Splice_Site|AIRE_ENST00000329347.4_Splice_Site	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCTCCCACAGAACCTGGCTC	0.692									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000291582.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.e11-1		autoimmune regulator							46.0	43.0	44.0					21																	45713671		2199	4295	6494	SO:0001630	splice_region_variant	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45713671G>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1279-1G>T	21.37:g.45713671G>T						AIRE_ENST00000329347.4_Splice_Site|AIRE_ENST00000355347.4_Splice_Site		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	11	1405	+								B2RP50|O43922|O43932|O75745	Splice_Site	SNP	ENST00000291582.5	37		CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115223	0.20795	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	.	.	.	3.41	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.45194	D	0.998207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2727	0.26266	0.1343:0.0:0.8657:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIRE	44538099	0.440000	0.25618	0.153000	0.22517	0.004000	0.04260	2.223000	0.42936	0.737000	0.32582	-0.350000	0.07774	.		0.692	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2		Intron	29	234	1	0	1.99505e-19	1	2.22584e-19	29	234				
FAM46B	115572	broad.mit.edu	37	1	27333276	27333276	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27333276A>G	ENST00000289166.5	-	2	602	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	146										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCAGCACCACTGCCTTGGT	0.617																																						ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(436-438)gTg>gCg		family with sequence similarity 46, member B							109.0	98.0	102.0					1																	27333276		2203	4300	6503	SO:0001583	missense	115572							g.chr1:27333276A>G	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.437T>C	1.37:g.27333276A>G	ENSP00000289166:p.Val146Ala						p.V146A	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	602	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	146						Missense_Mutation	SNP	ENST00000289166.5	37	c.437T>C	CCDS294.2	.	.	.	.	.	.	.	.	.	.	A	8.981	0.975371	0.18736	.	.	ENSG00000158246	ENST00000289166	T	0.24350	1.86	5.33	4.19	0.49359	Domain of unknown function DUF1693 (1);	0.114322	0.64402	D	0.000013	T	0.12220	0.0297	N	0.12746	0.255	0.50171	D	0.999854	B	0.14438	0.01	B	0.25405	0.06	T	0.09952	-1.0651	10	0.07175	T	0.84	-34.6345	8.621	0.33861	0.847:0.0:0.153:0.0	.	146	Q96A09	FA46B_HUMAN	A	146	ENSP00000289166:V146A	ENSP00000289166:V146A	V	-	2	0	FAM46B	27205863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.202000	0.65169	2.232000	0.73038	0.533000	0.62120	GTG		0.617	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		113	417	0	0	0	1	0	113	417				
TNR	7143	broad.mit.edu	37	1	175335086	175335086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175335086C>T	ENST00000367674.2	-	11	2950	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TNR_ENST00000263525.2_Missense_Mutation_p.A748T			Q92752	TENR_HUMAN	tenascin R	748	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGTACTCTGCCCCAGGCTCT	0.537																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(2242-2244)Gca>Aca		tenascin R							166.0	153.0	157.0					1																	175335086		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175335086C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2242G>A	1.37:g.175335086C>T	ENSP00000356646:p.Ala748Thr					TNR_ENST00000263525.2_Missense_Mutation_p.A748T	p.A748T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			11	2950	-	Renal(580;0.146)		748			Fibronectin type-III 5.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2242G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731404	0.15507	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.49139	0.79;0.79	5.95	3.88	0.44766	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054165	0.64402	D	0.000001	T	0.09686	0.0238	N	0.00202	-1.86	0.36312	D	0.857685	B	0.02656	0.0	B	0.06405	0.002	T	0.29150	-1.0021	10	0.02654	T	1	.	4.424	0.11495	0.0:0.5736:0.0:0.4264	.	748	Q92752	TENR_HUMAN	T	748	ENSP00000356646:A748T;ENSP00000263525:A748T	ENSP00000263525:A748T	A	-	1	0	TNR	173601709	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.815000	0.55651	1.514000	0.48869	0.650000	0.86243	GCA		0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		129	359	0	0	0	1	0	129	359				
DSE	29940	broad.mit.edu	37	6	116579730	116579730	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116579730G>T	ENST00000540275.1	+	2	245	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	RP3-486I3.7_ENST00000448740.2_lincRNA			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	0					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGTTGGAGGAGCCCTTGGCAG	0.547																																						ENST00000540275.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(124-126)Gcc>Tcc		dermatan sulfate epimerase																																				SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116579730G>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000540275.1:c.124G>T	6.37:g.116579730G>T	ENSP00000446378:p.Ala42Ser						p.A42S			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	2	245	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	0					Q5R3K6	Missense_Mutation	SNP	ENST00000540275.1	37	c.124G>T		.	.	.	.	.	.	.	.	.	.	G	11.88	1.770961	0.31320	.	.	ENSG00000111817	ENST00000540275	.	.	.	2.61	-0.625	0.11548	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46498	-0.9187	5	0.87932	D	0	.	2.6014	0.04867	0.4093:0.0:0.3752:0.2156	.	.	.	.	S	42	.	ENSP00000446378:A42S	A	+	1	0	DSE	116686423	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	0.390000	0.20768	-0.303000	0.08856	0.420000	0.28162	GCC		0.547	DSE-203	KNOWN	basic	protein_coding	protein_coding		NM_013352		23	191	1	0	2.27731e-05	1	2.32891e-05	23	191				
VLDLR	7436	broad.mit.edu	37	9	2643913	2643913	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2643913G>T	ENST00000382100.3	+	7	1376	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.Q340H	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	340	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TATGTAACCAGGAGCAGGACT	0.443																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1018-1020)caG>caT		very low density lipoprotein receptor							145.0	150.0	148.0					9																	2643913		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643913G>T		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1020G>T	9.37:g.2643913G>T	ENSP00000371532:p.Gln340His					VLDLR_ENST00000382099.2_Missense_Mutation_p.Q340H	p.Q340H	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	7	1376	+			340			LDL-receptor class A 8.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1020G>T	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247549	0.39697	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.95554	-3.74;-3.74	5.24	3.21	0.36854	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.131016	0.35320	N	0.003286	D	0.85729	0.5764	N	0.02842	-0.48	0.33844	D	0.631831	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.82232	-0.0559	10	0.51188	T	0.08	.	7.9089	0.29778	0.1504:0.0:0.7225:0.1271	.	340;340;340	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	H	340;340;219	ENSP00000371532:Q340H;ENSP00000371531:Q340H	ENSP00000371524:Q219H	Q	+	3	2	VLDLR	2633913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.264000	0.51553	0.661000	0.30985	0.655000	0.94253	CAG		0.443	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		12	471	1	0	0.010729	1	0.0107869	12	471				
SEMA3C	10512	broad.mit.edu	37	7	80374463	80374463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:80374463G>A	ENST00000265361.3	-	18	2564	c.2003C>T	c.(2002-2004)gCt>gTt	p.A668V	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	668					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CGTCACAACAGCCACCATTTC	0.483																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2002-2004)gCt>gTt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							86.0	79.0	82.0					7																	80374463		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80374463G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2003C>T	7.37:g.80374463G>A	ENSP00000265361:p.Ala668Val					SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V	p.A668V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			18	2564	-			668					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.2003C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006985	0.54361	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26373	1.75;1.75;1.74	5.56	5.56	0.83823	.	0.202241	0.52532	D	0.000063	T	0.21347	0.0514	N	0.19112	0.55	0.80722	D	1	B;B	0.18310	0.027;0.016	B;B	0.16289	0.015;0.007	T	0.02942	-1.1091	10	0.51188	T	0.08	.	19.5309	0.95228	0.0:0.0:1.0:0.0	.	686;668	F5H1Z7;Q99985	.;SEM3C_HUMAN	V	668;668;686	ENSP00000265361:A668V;ENSP00000411193:A668V;ENSP00000445649:A686V	ENSP00000265361:A668V	A	-	2	0	SEMA3C	80212399	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	5.594000	0.67557	2.636000	0.89361	0.650000	0.86243	GCT		0.483	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		78	332	0	0	0	1	0	78	332				
THSD7B	80731	broad.mit.edu	37	2	138373804	138373804	+	Missense_Mutation	SNP	C	C	A	rs201127163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:138373804C>A	ENST00000409968.1	+	18	3661	c.3483C>A	c.(3481-3483)aaC>aaA	p.N1161K	THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1163	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCACTGAACTCAAGGACTT	0.443																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3481-3483)aaC>aaA		thrombospondin, type I, domain containing 7B							159.0	170.0	166.0					2																	138373804		2118	4225	6343	SO:0001583	missense	80731							g.chr2:138373804C>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3483C>A	2.37:g.138373804C>A	ENSP00000387145:p.Asn1161Lys					THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K	p.N1161K						BRCA - Breast invasive adenocarcinoma(221;0.19)	18	3661	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3483C>A		.	.	.	.	.	.	.	.	.	.	C	1.846	-0.466125	0.04476	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.18174	2.23;2.23;2.23	5.2	0.0549	0.14312	.	0.564048	0.21965	N	0.066528	T	0.11707	0.0285	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35798	-0.9774	10	0.12103	T	0.63	.	4.6827	0.12743	0.1435:0.4232:0.0:0.4333	.	1133	C9JKN6	.	K	1161;1164;1133	ENSP00000387145:N1161K;ENSP00000272643:N1164K;ENSP00000413841:N1133K	ENSP00000272643:N1164K	N	+	3	2	THSD7B	138090274	0.005000	0.15991	0.089000	0.20774	0.130000	0.20726	0.048000	0.14078	0.049000	0.15920	0.650000	0.86243	AAC		0.443	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		60	641	1	0	2.93687e-30	1	3.44351e-30	60	641				
ZSCAN25	221785	broad.mit.edu	37	7	99227162	99227162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227162C>A	ENST00000394152.2	+	8	1481	c.1154C>A	c.(1153-1155)aCc>aAc	p.T385N	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T385N|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.T313N|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	385					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAGGGCTTTACCCTGAGAGAA	0.552																																						ENST00000394152.2																			0											c.(1153-1155)aCc>aAc		zinc finger and SCAN domain containing 25							79.0	75.0	76.0					7																	99227162		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99227162C>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1154C>A	7.37:g.99227162C>A	ENSP00000377708:p.Thr385Asn					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.T313N|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T385N|ZSCAN25_ENST00000466948.1_Intron	p.T385N	NM_145115.2	NP_660090.2					8	1481	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.1154C>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509861	0.27036	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.15603	2.41;2.41;2.41	3.93	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299373	0.24262	N	0.040068	T	0.11537	0.0281	L	0.38953	1.18	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.25759	0.063;0.043	T	0.24333	-1.0163	10	0.16420	T	0.52	-5.4068	10.2328	0.43264	0.0:0.6051:0.3949:0.0	.	313;385	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	N	385;385;313	ENSP00000377708:T385N;ENSP00000334800:T385N;ENSP00000262941:T313N	ENSP00000262941:T313N	T	+	2	0	ZNF498	99065098	0.000000	0.05858	0.070000	0.20053	0.992000	0.81027	-2.244000	0.01193	1.168000	0.42723	0.561000	0.74099	ACC		0.552	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		70	314	1	0	1.34568e-36	1	1.61182e-36	70	314				
LY96	23643	broad.mit.edu	37	8	74922249	74922249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74922249G>T	ENST00000284818.2	+	3	307	c.216G>T	c.(214-216)aaG>aaT	p.K72N	LY96_ENST00000518893.1_Missense_Mutation_p.K42N	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	72					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GAGATTTAAAGCAATTATATT	0.318																																					GBM(131;1357 1748 34893 50149 52212)	ENST00000284818.2																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(214-216)aaG>aaT		lymphocyte antigen 96							68.0	70.0	69.0					8																	74922249		2203	4300	6503	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922249G>T	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.216G>T	8.37:g.74922249G>T	ENSP00000284818:p.Lys72Asn					LY96_ENST00000518893.1_Missense_Mutation_p.K42N	p.K72N	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	307	+	Breast(64;0.0311)		72					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.216G>T	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	G	8.710	0.911873	0.17907	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.42900	0.96;0.96	4.77	-0.413	0.12363	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.986339	0.08275	N	0.970796	T	0.30665	0.0772	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.16722	0.016	T	0.37934	-0.9684	10	0.54805	T	0.06	.	0.6474	0.00821	0.4632:0.1717:0.1992:0.1658	.	72	Q9Y6Y9	LY96_HUMAN	N	72;42	ENSP00000284818:K72N;ENSP00000430533:K42N	ENSP00000284818:K72N	K	+	3	2	LY96	75084803	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.072000	0.11486	-0.141000	0.11374	-0.469000	0.05056	AAG		0.318	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		48	236	1	0	1.00776e-21	1	1.13667e-21	48	236				
UBE4A	9354	broad.mit.edu	37	11	118263583	118263583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118263583G>A	ENST00000431736.2	+	19	3140	c.3068G>A	c.(3067-3069)aGa>aAa	p.R1023K	UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K|UBE4A_ENST00000252108.3_Missense_Mutation_p.R1016K					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACTGTGGATAGATCCACCATT	0.458																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(3046-3048)aGa>aAa		ubiquitination factor E4A							162.0	148.0	153.0					11																	118263583		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118263583G>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3068G>A	11.37:g.118263583G>A	ENSP00000387362:p.Arg1023Lys					UBE4A_ENST00000431736.2_Missense_Mutation_p.R1023K|UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K	p.R1016K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	19	3178	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1016			U-box.			Missense_Mutation	SNP	ENST00000431736.2	37	c.3047G>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884896	0.97068	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.68181	-0.27;-0.31	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	M	0.82823	2.61	0.80722	D	1	P;D	0.52996	0.926;0.957	P;P	0.51866	0.682;0.6	T	0.80625	-0.1299	10	0.52906	T	0.07	-8.8278	20.3734	0.98896	0.0:0.0:1.0:0.0	.	1016;1023	Q14139;Q14139-2	UBE4A_HUMAN;.	K	1016;1023;488	ENSP00000252108:R1016K;ENSP00000387362:R1023K	ENSP00000252108:R1016K	R	+	2	0	UBE4A	117768793	1.000000	0.71417	0.910000	0.35882	0.996000	0.88848	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	AGA		0.458	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		99	465	0	0	0	1	0	99	465				
SPAG17	200162	broad.mit.edu	37	1	118727776	118727776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118727776G>A	ENST00000336338.5	-	1	70	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCTTGGGTGCCATGCAAAG	0.552																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4-6)gCa>gTa		sperm associated antigen 17							147.0	134.0	139.0					1																	118727776		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118727776G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5C>T	1.37:g.118727776G>A	ENSP00000337804:p.Ala2Val						p.A2V	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	1	70	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	2					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626553	0.66901	.	.	ENSG00000155761	ENST00000336338	T	0.20598	2.06	4.88	4.88	0.63580	.	0.398250	0.24698	N	0.036340	T	0.21841	0.0526	N	0.22421	0.69	0.33507	D	0.590619	D	0.89917	1.0	D	0.87578	0.998	T	0.02477	-1.1153	10	0.59425	D	0.04	.	13.7149	0.62691	0.0:0.0:1.0:0.0	.	2	Q6Q759	SPG17_HUMAN	V	2	ENSP00000337804:A2V	ENSP00000337804:A2V	A	-	2	0	SPAG17	118529299	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.482000	0.45224	2.699000	0.92147	0.555000	0.69702	GCA		0.552	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		134	475	0	0	0	1	0	134	475				
SPAG6	9576	broad.mit.edu	37	10	22678185	22678185	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22678185C>A	ENST00000376624.3	+	7	1091	c.949C>A	c.(949-951)Ctt>Att	p.L317I	SPAG6_ENST00000376603.2_Missense_Mutation_p.L393I|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I|SPAG6_ENST00000376601.1_Intron|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	317					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CATCATGATGCTTGGTTATGT	0.468																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(1177-1179)Ctt>Att		sperm associated antigen 6							187.0	157.0	167.0					10																	22678185		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22678185C>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.949C>A	10.37:g.22678185C>A	ENSP00000365811:p.Leu317Ile					RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.L317I|SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I	p.L393I			O75602	SPAG6_HUMAN			7	1319	+			317					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1177C>A	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981469	0.74474	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.74526	-0.85;0.62;-0.85;-0.85	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	L	0.45352	1.415	0.80722	D	1	P;P;P;P	0.44195	0.736;0.668;0.828;0.828	B;P;B;B	0.47162	0.255;0.54;0.31;0.333	T	0.71570	-0.4553	10	0.30854	T	0.27	-16.9601	19.9238	0.97097	0.0:1.0:0.0:0.0	.	292;393;317;317	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	I	317;393;292;317	ENSP00000365811:L317I;ENSP00000365788:L393I;ENSP00000441325:L292I;ENSP00000323599:L317I	ENSP00000323599:L317I	L	+	1	0	SPAG6	22718191	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.570000	0.82390	2.712000	0.92718	0.650000	0.86243	CTT		0.468	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			24	227	1	0	6.36457e-07	1	6.58826e-07	24	227				
SEMA5A	9037	broad.mit.edu	37	5	9154665	9154665	+	Silent	SNP	G	G	A	rs377487102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154665G>A	ENST00000382496.5	-	12	2081	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	472	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.F472F(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGGCCCACGAACAGGACAC	0.612																																						ENST00000382496.5																			1	Substitution - coding silent(1)	p.F472F(1)	large_intestine(1)	biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1414-1416)ttC>ttT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							84.0	77.0	80.0					5																	9154665		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154665G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1416C>T	5.37:g.9154665G>A							p.F472F	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			12	2081	-			472			Sema.		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1416C>T	CCDS3875.1																																																																																				0.612	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			88	379	0	0	0	1	0	88	379				
ZSCAN20	7579	broad.mit.edu	37	1	33960823	33960823	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960823A>C	ENST00000361328.3	+	8	3032	c.2879A>C	c.(2878-2880)aAa>aCa	p.K960T		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	960					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGCCCTACAAATGCCTTGAG	0.502																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2878-2880)aAa>aCa		zinc finger and SCAN domain containing 20							85.0	99.0	94.0					1																	33960823		2161	4277	6438	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960823A>C	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2879A>C	1.37:g.33960823A>C	ENSP00000355053:p.Lys960Thr						p.K960T	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	3032	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	960					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2879A>C	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973625	0.34848	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	2.06	0.26882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184247	0.38058	N	0.001840	T	0.29061	0.0722	L	0.35593	1.075	0.09310	N	1	B;B	0.30193	0.178;0.272	B;B	0.33339	0.062;0.162	T	0.22243	-1.0222	9	0.72032	D	0.01	-3.6351	4.805	0.13316	0.6102:0.1497:0.24:0.0	.	959;960	P17040-3;P17040	.;ZSC20_HUMAN	T	960;894;894	.	ENSP00000324450:K960T	K	+	2	0	ZSCAN20	33733410	0.000000	0.05858	0.960000	0.40013	0.986000	0.74619	-0.041000	0.12084	0.092000	0.17331	0.533000	0.62120	AAA		0.502	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		33	292	0	0	0	1	0	33	292				
PARS2	25973	broad.mit.edu	37	1	55224511	55224511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55224511C>A	ENST00000371279.3	-	2	406	c.324G>T	c.(322-324)gaG>gaT	p.E108D		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	108					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGGCCTGCATCTCCTGGTCTA	0.617																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(322-324)gaG>gaT		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						77.0	76.0	76.0					1																	55224511		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224511C>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.324G>T	1.37:g.55224511C>A	ENSP00000360327:p.Glu108Asp						p.E108D	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	406	-			108					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.324G>T	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580642	0.65992	.	.	ENSG00000162396	ENST00000371279	T	0.80566	-1.39	4.99	4.99	0.66335	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.065947	0.64402	D	0.000010	D	0.91563	0.7335	H	0.96889	3.9	0.53688	D	0.999977	D	0.56035	0.974	D	0.63381	0.914	D	0.93020	0.6439	10	0.72032	D	0.01	-24.8229	9.9672	0.41732	0.0:0.7824:0.1404:0.0772	.	108	Q7L3T8	SYPM_HUMAN	D	108	ENSP00000360327:E108D	ENSP00000360327:E108D	E	-	3	2	PARS2	54997099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.534000	0.45676	2.310000	0.77875	0.563000	0.77884	GAG		0.617	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		113	372	1	0	4.70087e-54	1	5.86491e-54	113	372				
HECTD2	143279	broad.mit.edu	37	10	93244323	93244323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93244323G>A	ENST00000298068.5	+	9	975	c.881G>A	c.(880-882)cGc>cAc	p.R294H	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.R298H|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	294					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTTCTTTACGCCTGTTTCCT	0.368																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(892-894)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 2							98.0	99.0	99.0					10																	93244323		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93244323G>A	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.881G>A	10.37:g.93244323G>A	ENSP00000298068:p.Arg294His					HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000298068.5_Missense_Mutation_p.R294H|HECTD2_ENST00000498446.1_3'UTR	p.R298H			Q5U5R9	HECD2_HUMAN			10	993	+			294					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.893G>A	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776438	0.70107	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.39229	1.12;1.09	5.97	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.63957	0.794;0.92	T	0.71471	-0.4583	10	0.36615	T	0.2	.	17.2064	0.86920	0.0:0.1261:0.8739:0.0	.	298;294	E7ERR3;Q5U5R9	.;HECD2_HUMAN	H	298;20;294	ENSP00000401023:R298H;ENSP00000298068:R294H	ENSP00000298068:R294H	R	+	2	0	HECTD2	93234303	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.069000	0.93967	1.508000	0.48769	-0.274000	0.10170	CGC		0.368	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			47	339	0	0	0	1	0	47	339				
FZD9	8326	broad.mit.edu	37	7	72849343	72849343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849343C>T	ENST00000344575.3	+	1	1235	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	336					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTCCTGACGCTCACCTGGTT	0.647																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1006-1008)Ctc>Ttc		frizzled family receptor 9							77.0	71.0	73.0					7																	72849343		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849343C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1006C>T	7.37:g.72849343C>T	ENSP00000345785:p.Leu336Phe						p.L336F	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1235	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	336						Missense_Mutation	SNP	ENST00000344575.3	37	c.1006C>T	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808435	0.70797	.	.	ENSG00000188763	ENST00000344575	T	0.48201	0.82	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000008	T	0.59183	0.2175	L	0.48877	1.53	0.80722	D	1	D	0.54207	0.965	D	0.63381	0.914	T	0.57808	-0.7747	10	0.36615	T	0.2	.	16.0988	0.81152	0.0:1.0:0.0:0.0	.	336	O00144	FZD9_HUMAN	F	336	ENSP00000345785:L336F	ENSP00000345785:L336F	L	+	1	0	FZD9	72487279	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	3.821000	0.55700	2.105000	0.64084	0.563000	0.77884	CTC		0.647	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			84	382	0	0	0	1	0	84	382				
MYO9A	4649	broad.mit.edu	37	15	72119296	72119296	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119296G>A	ENST00000356056.5	-	42	7744	c.7272C>T	c.(7270-7272)gaC>gaT	p.D2424D	MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Silent_p.D2405D|MYO9A_ENST00000424560.1_Silent_p.D2495D	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2424	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATCTAAAGAGTCTTGCTGCT	0.428																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(7270-7272)gaC>gaT		myosin IXA							69.0	71.0	70.0					15																	72119296		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72119296G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7272C>T	15.37:g.72119296G>A						MYO9A_ENST00000444904.1_Silent_p.D2405D|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Silent_p.D2495D	p.D2424D	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7744	-			2424			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.7272C>T	CCDS10239.1																																																																																				0.428	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		56	269	0	0	0	1	0	56	269				
BAGE2	85319	broad.mit.edu	37	21	11039272	11039272	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11039272C>T	ENST00000470054.1	-	0	931							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTGCTCTTGCTGCACAGTGA	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039272C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039272C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	931	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		41	1501	0	0	0	1	0	41	1501				
LPAR2	9170	broad.mit.edu	37	19	19737613	19737613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19737613G>A	ENST00000542587.1	-	5	1383	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	LPAR2_ENST00000586703.1_Silent_p.L161L|LPAR2_ENST00000407877.3_Silent_p.L161L|LPAR2_ENST00000589311.1_5'Flank			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	161					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGCAGCCCCAGGCCCAGGGCA	0.706																																						ENST00000542587.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(481-483)Ctg>Ttg		lysophosphatidic acid receptor 2							23.0	20.0	21.0					19																	19737613		2194	4294	6488	SO:0001819	synonymous_variant	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737613G>A	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.481C>T	19.37:g.19737613G>A						LPAR2_ENST00000586703.1_Silent_p.L161L|LPAR2_ENST00000407877.3_Silent_p.L161L	p.L161L			Q9HBW0	LPAR2_HUMAN			5	1383	-			161					O00543|O43431	Silent	SNP	ENST00000542587.1	37	c.481C>T	CCDS12407.1																																																																																				0.706	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		28	71	0	0	0	1	0	28	71				
SLC37A3	84255	broad.mit.edu	37	7	140051074	140051074	+	Splice_Site	SNP	G	G	A	rs558974013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140051074G>A	ENST00000326232.9	-	9	1084	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000340308.3_Splice_Site_p.P294L|SLC37A3_ENST00000447932.2_Splice_Site_p.P294L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	294					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GGTCCTTACCGGTATGACTCC	0.478													G|||	9	0.00179712	0.0	0.0	5008	,	,		20238	0.0		0.0	False		,,,				2504	0.0092				Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000326232.9																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24						c.e9+1		solute carrier family 37, member 3							116.0	93.0	101.0					7																	140051074		2203	4300	6503	SO:0001630	splice_region_variant	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140051074G>A	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.882+1C>T	7.37:g.140051074G>A						SLC37A3_ENST00000340308.3_Splice_Site_p.P294_splice|SLC37A3_ENST00000447932.2_Splice_Site_p.P294_splice|SLC37A3_ENST00000429996.2_3'UTR	p.P294_splice	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN			9	1084	-	Melanoma(164;0.0142)		294					Q6PIU7|Q86SS4|Q9BQG7	Splice_Site	SNP	ENST00000326232.9	37	c.882_splice	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.99|12.99	2.104485|2.104485	0.37145|0.37145	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000485734	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	4.9|4.9	2.36|2.36	0.29203|0.29203	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.232813|.	0.46442|.	N|.	0.000296|.	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14012|.	0.003;0.009;0.003|.	B;B;B|.	0.15052|.	0.005;0.012;0.009|.	T|T	0.08659|0.08659	-1.0711|-1.0711	10|5	0.33141|.	T|.	0.24|.	-48.9586|-48.9586	4.9445|4.9445	0.13982|0.13982	0.5043:0.0:0.4957:0.0|0.5043:0.0:0.4957:0.0	.|.	294;294;294|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	L|C	294|73	ENSP00000343358:P294L;ENSP00000397481:P294L;ENSP00000321498:P294L|.	ENSP00000321498:P294L|.	P|R	-|-	2|1	0|0	SLC37A3|SLC37A3	139697543|139697543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.871000|1.871000	0.39539|0.39539	1.024000|1.024000	0.39682|0.39682	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.478	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295	Missense_Mutation	30	239	0	0	0	1	0	30	239				
UNC79	57578	broad.mit.edu	37	14	94044282	94044282	+	Missense_Mutation	SNP	G	G	A	rs188822336		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94044282G>A	ENST00000393151.2	+	18	2306	c.2306G>A	c.(2305-2307)cGt>cAt	p.R769H	UNC79_ENST00000555664.1_Missense_Mutation_p.R769H|UNC79_ENST00000553484.1_Missense_Mutation_p.R769H|UNC79_ENST00000256339.4_Missense_Mutation_p.R592H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	769					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R769H(1)|p.R592H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTCCTTTGCGTAGTCCGTTT	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21299	0.0		0.0	False		,,,				2504	0.0					ENST00000553484.1																			2	Substitution - Missense(2)	p.R769H(1)|p.R592H(1)	prostate(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2305-2307)cGt>cAt		unc-79 homolog (C. elegans)							244.0	223.0	230.0					14																	94044282		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94044282G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2306G>A	14.37:g.94044282G>A	ENSP00000376858:p.Arg769His					UNC79_ENST00000555664.1_Missense_Mutation_p.R769H|UNC79_ENST00000393151.2_Missense_Mutation_p.R769H|UNC79_ENST00000256339.4_Missense_Mutation_p.R592H	p.R769H			Q9P2D8	UNC79_HUMAN			18	2460	+			769					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2306G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.40	2.523875	0.44866	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.33	3.52	0.40303	.	0.058560	0.64402	N	0.000005	T	0.15478	0.0373	L	0.29908	0.895	0.42683	D	0.993556	B	0.22276	0.067	B	0.14578	0.011	T	0.04320	-1.0960	10	0.40728	T	0.16	-5.664	11.9231	0.52803	0.1415:0.0:0.8585:0.0	.	769	C9JQL1	.	H	592;769;769;769;769	ENSP00000256339:R592H;ENSP00000450868:R769H;ENSP00000451360:R769H;ENSP00000376858:R769H	ENSP00000256339:R592H	R	+	2	0	KIAA1409	93114035	1.000000	0.71417	0.962000	0.40283	0.885000	0.51271	4.110000	0.57831	0.654000	0.30846	-0.759000	0.03464	CGT		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		177	784	0	0	0	1	0	177	784				
CCDC74A	90557	broad.mit.edu	37	2	132289243	132289243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132289243C>T	ENST00000295171.6	+	4	689	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CCDC74A_ENST00000467992.2_Missense_Mutation_p.A286V|CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	184										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGCAAGGCCAGGCCCCAG	0.577																																						ENST00000467992.2																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(856-858)gCc>gTc		coiled-coil domain containing 74A							12.0	25.0	21.0					2																	132289243		1601	3760	5361	SO:0001583	missense	90557							g.chr2:132289243C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.551C>T	2.37:g.132289243C>T	ENSP00000295171:p.Ala184Val					CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V|CCDC74A_ENST00000295171.6_Missense_Mutation_p.A184V	p.A286V			Q96AQ1	CC74A_HUMAN			2	1171	+			184					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.857C>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.100255	0.37048	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.57752	1.7;1.66;0.48;0.38	2.13	1.21	0.21127	.	0.703582	0.12409	N	0.471404	T	0.48205	0.1487	M	0.62723	1.935	0.09310	N	0.999999	P;P	0.46512	0.775;0.879	B;P	0.45167	0.436;0.472	T	0.41592	-0.9500	10	0.51188	T	0.08	-5.0991	4.0344	0.09724	0.0:0.7793:0.0:0.2207	.	118;184	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	V	184;118;113;286	ENSP00000295171:A184V;ENSP00000387009:A118V;ENSP00000406839:A113V;ENSP00000444610:A286V	ENSP00000295171:A184V	A	+	2	0	CCDC74A	132005713	0.099000	0.21834	0.997000	0.53966	0.743000	0.42351	-0.591000	0.05753	1.192000	0.43071	0.194000	0.17425	GCC		0.577	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		54	157	0	0	0	1	0	54	157				
SPEF2	79925	broad.mit.edu	37	5	35740046	35740046	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740046A>G	ENST00000356031.3	+	22	3243	c.3089A>G	c.(3088-3090)tAc>tGc	p.Y1030C	SPEF2_ENST00000440995.2_Missense_Mutation_p.Y1025C|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1030					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAGTACCTTACTGGGAACTA	0.338																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3073-3075)tAc>tGc		sperm flagellar 2							77.0	71.0	73.0					5																	35740046		1826	4079	5905	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740046A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3089A>G	5.37:g.35740046A>G	ENSP00000348314:p.Tyr1030Cys					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.Y1030C	p.Y1025C			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		22	3074	+	all_lung(31;7.56e-05)		1030					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3074A>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649146	0.67358	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.06687	3.28;3.27	5.83	4.63	0.57726	.	0.217033	0.39146	N	0.001450	T	0.27241	0.0668	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.963	T	0.01056	-1.1466	10	0.72032	D	0.01	.	12.3798	0.55301	0.8742:0.0:0.0:0.1258	.	1025;1030	Q9C093-2;Q9C093	.;SPEF2_HUMAN	C	1030;1025	ENSP00000348314:Y1030C;ENSP00000412125:Y1025C	ENSP00000348314:Y1030C	Y	+	2	0	SPEF2	35775803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.396000	0.59684	2.236000	0.73375	0.533000	0.62120	TAC		0.338	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		49	242	0	0	0	1	0	49	242				
COG2	22796	broad.mit.edu	37	1	230805179	230805179	+	Silent	SNP	C	C	T	rs186499102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805179C>T	ENST00000366669.4	+	7	787	c.672C>T	c.(670-672)gtC>gtT	p.V224V	COG2_ENST00000534989.1_Silent_p.V165V|COG2_ENST00000535166.1_Silent_p.V108V|COG2_ENST00000366668.3_Silent_p.V224V	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	224					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGTCTGACGTCGATATAATAC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19624	0.001		0.0	False		,,,				2504	0.0					ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(493-495)gtC>gtT		component of oligomeric golgi complex 2							120.0	105.0	110.0					1																	230805179		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805179C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.672C>T	1.37:g.230805179C>T						COG2_ENST00000366669.4_Silent_p.V224V|COG2_ENST00000366668.3_Silent_p.V224V|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Silent_p.V108V	p.V165V			Q14746	COG2_HUMAN			7	830	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	224					Q86U99	Silent	SNP	ENST00000366669.4	37	c.495C>T	CCDS1584.1																																																																																				0.493	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		116	379	0	0	0	1	0	116	379				
AFF3	3899	broad.mit.edu	37	2	100266103	100266103	+	Missense_Mutation	SNP	C	C	T	rs201587401		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100266103C>T	ENST00000409236.2	-	11	1281	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	AFF3_ENST00000317233.4_Missense_Mutation_p.R390H|AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000356421.2_Missense_Mutation_p.R415H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	390					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAGAGCGCGGAGAGCCGT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.001		0.0	False		,,,				2504	0.0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1168-1170)cGc>cAc		AF4/FMR2 family, member 3							86.0	100.0	95.0					2																	100266103		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100266103C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1169G>A	2.37:g.100266103C>T	ENSP00000387207:p.Arg390His					AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000409236.1_Missense_Mutation_p.R390H|AFF3_ENST00000356421.2_Missense_Mutation_p.R415H	p.R390H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			12	1404	-			390					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1169G>A	CCDS42723.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.31	2.198071	0.38806	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	6.07	3.05	0.35203	.	0.160493	0.29594	N	0.011704	T	0.53916	0.1826	L	0.36672	1.1	0.31696	N	0.641262	B;B;B	0.19583	0.037;0.004;0.003	B;B;B	0.15052	0.012;0.005;0.002	T	0.51482	-0.8700	10	0.41790	T	0.15	.	3.4607	0.07532	0.2012:0.5685:0.0:0.2302	.	543;390;415	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	H	390;415;415;390;390;543;415	ENSP00000317421:R390H;ENSP00000348793:R415H;ENSP00000386834:R415H;ENSP00000387207:R390H	ENSP00000317421:R390H	R	-	2	0	AFF3	99632535	0.918000	0.31147	0.991000	0.47740	0.900000	0.52787	1.550000	0.36223	0.319000	0.23209	0.650000	0.86243	CGC		0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		92	442	0	0	0	1	0	92	442				
CTC1	80169	broad.mit.edu	37	17	8131635	8131635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8131635G>A	ENST00000315684.8	-	23	3524	c.3517C>T	c.(3517-3519)Cct>Tct	p.P1173S	RP11-849F2.8_ENST00000602405.1_lincRNA	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1173					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGCCGAGGAGGTTCTGAGGTG	0.532																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3517-3519)Cct>Tct		CTS telomere maintenance complex component 1							73.0	83.0	80.0					17																	8131635		2034	4181	6215	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8131635G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3517C>T	17.37:g.8131635G>A	ENSP00000313759:p.Pro1173Ser						p.P1173S	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			23	3524	-			1173					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3517C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625210	0.46840	.	.	ENSG00000178971	ENST00000315684	D	0.83591	-1.74	5.91	0.0505	0.14293	.	0.553725	0.20157	N	0.098037	T	0.71719	0.3373	L	0.55103	1.725	0.27922	N	0.938214	B	0.16802	0.019	B	0.14023	0.01	T	0.57619	-0.7780	10	0.35671	T	0.21	-2.4118	1.6564	0.02782	0.243:0.1412:0.4705:0.1454	.	1173	Q2NKJ3	CTC1_HUMAN	S	1173	ENSP00000313759:P1173S	ENSP00000313759:P1173S	P	-	1	0	CTC1	8072360	0.998000	0.40836	0.968000	0.41197	0.854000	0.48673	0.865000	0.27940	0.392000	0.25172	0.655000	0.94253	CCT		0.532	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		109	428	0	0	0	1	0	109	428				
CLHC1	130162	broad.mit.edu	37	2	55407780	55407780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55407780G>A	ENST00000401408.1	-	11	1595	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Missense_Mutation_p.A417V|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.A295V	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	417																	CAGGCACTTGGCCTTGTTATA	0.433																																						ENST00000401408.1																			0											c.(1249-1251)gCc>gTc		clathrin heavy chain linker domain containing 1							118.0	109.0	112.0					2																	55407780		2203	4300	6503	SO:0001583	missense	130162							g.chr2:55407780G>A		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1250C>T	2.37:g.55407780G>A	ENSP00000384869:p.Ala417Val					CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.A295V|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Missense_Mutation_p.A417V	p.A417V	NM_152385.2	NP_689598.2					11	1595	-								B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.1250C>T	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802390	0.70682	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.20598	2.07;2.07;2.06	5.98	5.98	0.97165	Clathrin, heavy chain, linker (1);Armadillo-type fold (1);	0.657771	0.14568	N	0.311608	T	0.24084	0.0583	L	0.51422	1.61	0.80722	D	1	P	0.39665	0.682	B	0.35550	0.205	T	0.03112	-1.1071	10	0.59425	D	0.04	0.4097	17.3688	0.87370	0.0:0.0:1.0:0.0	.	417	Q8NHS4	CB063_HUMAN	V	417;417;295	ENSP00000385778:A417V;ENSP00000384869:A417V;ENSP00000385512:A295V	ENSP00000384869:A417V	A	-	2	0	C2orf63	55261284	0.997000	0.39634	0.969000	0.41365	0.929000	0.56500	2.967000	0.49216	2.838000	0.97847	0.591000	0.81541	GCC		0.433	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		73	325	0	0	0	1	0	73	325				
USP8	9101	broad.mit.edu	37	15	50782713	50782713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50782713G>A	ENST00000396444.3	+	14	2563	c.2225G>A	c.(2224-2226)cGg>cAg	p.R742Q	USP8_ENST00000307179.4_Missense_Mutation_p.R742Q|USP8_ENST00000433963.1_Missense_Mutation_p.R742Q|USP8_ENST00000425032.3_Missense_Mutation_p.R636Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	742					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACAGTTAATCGGGAAAACAAG	0.403																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2224-2226)cGg>cAg		ubiquitin specific peptidase 8							95.0	96.0	96.0					15																	50782713		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50782713G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2225G>A	15.37:g.50782713G>A	ENSP00000379721:p.Arg742Gln					USP8_ENST00000307179.4_Missense_Mutation_p.R742Q|USP8_ENST00000396444.3_Missense_Mutation_p.R742Q|USP8_ENST00000425032.3_Missense_Mutation_p.R636Q	p.R742Q	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	15	2725	+			742					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2225G>A	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236592	0.79800	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19669	2.13;2.13;2.13;2.15	5.6	5.6	0.85130	.	0.650366	0.16020	N	0.233361	T	0.33177	0.0854	L	0.32530	0.975	0.80722	D	1	D;P	0.60575	0.988;0.947	P;P	0.55260	0.752;0.772	T	0.02751	-1.1115	10	0.59425	D	0.04	-14.7141	19.9733	0.97292	0.0:0.0:1.0:0.0	.	636;742	B4DKA8;P40818	.;UBP8_HUMAN	Q	742;742;742;636	ENSP00000379721:R742Q;ENSP00000405537:R742Q;ENSP00000302239:R742Q;ENSP00000412682:R636Q	ENSP00000302239:R742Q	R	+	2	0	USP8	48570005	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	9.169000	0.94788	2.790000	0.95986	0.650000	0.86243	CGG		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		40	392	0	0	0	1	0	40	392				
TBK1	29110	broad.mit.edu	37	12	64895141	64895141	+	Missense_Mutation	SNP	C	C	T	rs185524052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64895141C>T	ENST00000331710.5	+	21	2509	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	724					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGGTGGCCTTCGCAACGTTGA	0.368													C|||	3	0.000599042	0.0	0.0	5008	,	,		14975	0.003		0.0	False		,,,				2504	0.0					ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(2170-2172)Cgc>Tgc		TANK-binding kinase 1							170.0	165.0	167.0					12																	64895141		2203	4300	6503	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64895141C>T	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.2170C>T	12.37:g.64895141C>T	ENSP00000329967:p.Arg724Cys						p.R724C	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	21	2509	+			724					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.2170C>T	CCDS8968.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	19.42	3.823372	0.71143	.	.	ENSG00000183735	ENST00000331710	T	0.70986	-0.53	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	N	0.08118	0	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	T	0.64736	-0.6337	9	.	.	.	-4.5344	14.5605	0.68133	0.2533:0.7467:0.0:0.0	.	724	Q9UHD2	TBK1_HUMAN	C	724	ENSP00000329967:R724C	.	R	+	1	0	TBK1	63181408	0.259000	0.24043	1.000000	0.80357	0.979000	0.70002	0.370000	0.20433	2.873000	0.98535	0.563000	0.77884	CGC		0.368	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		94	469	0	0	0	1	0	94	469				
SLC15A4	121260	broad.mit.edu	37	12	129299465	129299465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129299465C>T	ENST00000266771.5	-	2	736	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	233					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GCAAGGCCGACGCAGACAGTG	0.517																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(697-699)Gtc>Atc		solute carrier family 15 (oligopeptide transporter), member 4							197.0	179.0	185.0					12																	129299465		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129299465C>T	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.697G>A	12.37:g.129299465C>T	ENSP00000266771:p.Val233Ile					SLC15A4_ENST00000539703.1_5'UTR	p.V233I	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	2	736	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		233					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.697G>A	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	5.065	0.197674	0.09652	.	.	ENSG00000139370	ENST00000266771	T	0.04156	3.69	5.7	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);	0.219518	0.47093	N	0.000258	T	0.01592	0.0051	N	0.01250	-0.93	0.80722	D	1	B	0.21606	0.058	B	0.18263	0.021	T	0.54248	-0.8322	10	0.21540	T	0.41	.	6.7249	0.23350	0.0:0.27:0.0:0.73	.	233	Q8N697	S15A4_HUMAN	I	233	ENSP00000266771:V233I	ENSP00000266771:V233I	V	-	1	0	SLC15A4	127865418	1.000000	0.71417	0.438000	0.26821	0.203000	0.24098	1.962000	0.40442	0.232000	0.21100	0.591000	0.81541	GTC		0.517	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		112	510	0	0	0	1	0	112	510				
KIAA0408	9729	broad.mit.edu	37	6	127771254	127771254	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771254T>A	ENST00000483725.3	-	3	715	c.379A>T	c.(379-381)Aaa>Taa	p.K127*	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	127										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTTTTGATTTTTTTGTTGCT	0.418																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(379-381)Aaa>Taa		KIAA0408							144.0	136.0	139.0					6																	127771254		2203	4300	6503	SO:0001587	stop_gained	9729						protein binding	g.chr6:127771254T>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.379A>T	6.37:g.127771254T>A	ENSP00000435150:p.Lys127*					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.K127*	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	715	-			127					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Nonsense_Mutation	SNP	ENST00000483725.3	37	c.379A>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	T	32	5.134437	0.94517	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	.	.	.	5.18	2.82	0.32997	.	0.161017	0.28031	U	0.016865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4347	7.355	0.26714	0.0:0.2632:0.0:0.7368	.	.	.	.	X	127;139	.	ENSP00000435150:K127X	K	-	1	0	KIAA0408	127812947	0.003000	0.15002	0.002000	0.10522	0.735000	0.41995	1.154000	0.31688	0.448000	0.26722	0.533000	0.62120	AAA		0.418	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		134	563	0	0	0	1	0	134	563				
TMCC1	23023	broad.mit.edu	37	3	129373889	129373889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373889G>A	ENST00000393238.3	-	5	1909	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TMCC1_ENST00000432054.2_Silent_p.I199I|TMCC1_ENST00000426664.2_Silent_p.I409I|TMCC1_ENST00000329333.5_Silent_p.I344I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	523						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCAAGTTCAAGATTTCATTCT	0.403																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1567-1569)atC>atT		transmembrane and coiled-coil domain family 1							133.0	131.0	132.0					3																	129373889		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129373889G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1569C>T	3.37:g.129373889G>A						TMCC1_ENST00000329333.5_Silent_p.I344I|TMCC1_ENST00000432054.2_Silent_p.I199I|TMCC1_ENST00000426664.2_Silent_p.I409I	p.I523I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			5	1909	-			523					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.1569C>T	CCDS33855.1																																																																																				0.403	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		102	374	0	0	0	1	0	102	374				
DDOST	1650	broad.mit.edu	37	1	20987419	20987419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20987419C>A	ENST00000375048.3	-	2	376	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000415136.2_Intron|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGGAATTCCCCATACTTT	0.512																																						ENST00000375048.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13						c.(271-273)Gaa>Taa		dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)							70.0	69.0	70.0					1																	20987419		2203	4300	6503	SO:0001587	stop_gained	1650				innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr1:20987419C>A	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.271G>T	1.37:g.20987419C>A	ENSP00000364188:p.Glu91*					DDOST_ENST00000415136.2_Intron|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*|DDOST_ENST00000477229.1_5'UTR	p.E91*	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	376	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	91					B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Nonsense_Mutation	SNP	ENST00000375048.3	37	c.271G>T	CCDS212.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559908	0.97663	.	.	ENSG00000244038	ENST00000375048	.	.	.	5.1	5.1	0.69264	.	0.053951	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-34.5713	18.9259	0.92544	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000364188:E91X	E	-	1	0	DDOST	20860006	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.056000	0.71111	2.547000	0.85894	0.655000	0.94253	GAA		0.512	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		16	187	1	0	0.000566183	1	0.000573471	16	187				
KIAA1211	57482	broad.mit.edu	37	4	57193927	57193927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57193927G>T	ENST00000504228.1	+	9	3764	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M			Q6ZU35	K1211_HUMAN	KIAA1211	1220										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTGGCCAAAAGGAAAGCAAAG	0.532																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3658-3660)aGg>aTg		KIAA1211							87.0	90.0	89.0					4																	57193927		1866	4098	5964	SO:0001583	missense	57482							g.chr4:57193927G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3659G>T	4.37:g.57193927G>T	ENSP00000423366:p.Arg1220Met					KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M	p.R1220M			Q6ZU35	K1211_HUMAN			9	3764	+	Glioma(25;0.08)|all_neural(26;0.101)		1220					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3659G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009568	0.93346	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.78595	-1.19;-1.19;-1.19	5.69	5.69	0.88448	.	.	.	.	.	D	0.87497	0.6192	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87873	0.2672	9	0.87932	D	0	-14.174	19.817	0.96573	0.0:0.0:1.0:0.0	.	1213;1220	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1220;1220;1213	ENSP00000264229:R1220M;ENSP00000423366:R1220M;ENSP00000444006:R1213M	ENSP00000264229:R1220M	R	+	2	0	KIAA1211	56888684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.678000	0.91216	0.655000	0.94253	AGG		0.532	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		158	695	1	0	6.34984e-79	1	8.11231e-79	158	695				
RELN	5649	broad.mit.edu	37	7	103292173	103292173	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103292173T>C	ENST00000428762.1	-	15	1986	c.1827A>G	c.(1825-1827)ttA>ttG	p.L609L	RELN_ENST00000343529.5_Silent_p.L609L|RELN_ENST00000424685.2_Silent_p.L609L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	609					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGATCTCAGGTAAGCATTCAG	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1825-1827)ttA>ttG		reelin							81.0	66.0	71.0					7																	103292173		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103292173T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1827A>G	7.37:g.103292173T>C						RELN_ENST00000343529.5_Silent_p.L609L|RELN_ENST00000424685.2_Silent_p.L609L	p.L609L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	15	1986	-			609					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1827A>G	CCDS47680.1																																																																																				0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		28	192	0	0	0	1	0	28	192				
CPT1B	1375	broad.mit.edu	37	22	51014508	51014508	+	Nonsense_Mutation	SNP	G	G	A	rs374942225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51014508G>A	ENST00000360719.2	-	7	870	c.733C>T	c.(733-735)Cga>Tga	p.R245*	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	245					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R245*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCCTGCCTCGAAGGTAGATG	0.582											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			1	Substitution - Nonsense(1)	p.R245*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(733-735)Cga>Tga		carnitine palmitoyltransferase 1B (muscle)		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	102.0	89.0	93.0		631,733,733,733,733,733,733	3.8	1.0	22		93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	CPT1B	NM_001145134.1,NM_001145135.1,NM_001145136.1,NM_001145137.1,NM_004377.3,NM_152245.2,NM_152246.2	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	211/739,245/773,245/692,245/773,245/773,245/773,245/773	51014508	1,13005	2203	4300	6503	SO:0001587	stop_gained	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51014508G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.733C>T	22.37:g.51014508G>A	ENSP00000353945:p.Arg245*		OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	974	CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*	p.R245*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	7	870	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	245					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Nonsense_Mutation	SNP	ENST00000360719.2	37	c.733C>T	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	36	5.597902	0.96602	0.0	1.16E-4	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	.	.	.	4.81	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4107	9.9502	0.41634	0.0:0.0:0.63:0.37	.	.	.	.	X	245;245;245;211;245;42;245	.	ENSP00000312189:R245X	R	-	1	2	CPT1B	49361374	0.582000	0.26749	0.967000	0.41034	0.997000	0.91878	1.018000	0.30002	1.210000	0.43336	0.561000	0.74099	CGA		0.582	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		74	336	0	0	0	1	0	74	336				
WHAMM	123720	broad.mit.edu	37	15	83478510	83478510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83478510G>A	ENST00000286760.4	+	1	131	c.32G>A	c.(31-33)gGc>gAc	p.G11D		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	11	Mediates association with membranes. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGCCTGGAGGGCTGGGTGCCG	0.736																																						ENST00000286760.4																			0				endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						c.(31-33)gGc>gAc		WAS protein homolog associated with actin, golgi membranes and microtubules							6.0	7.0	6.0					15																	83478510		1597	3593	5190	SO:0001583	missense	123720					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding	g.chr15:83478510G>A	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.32G>A	15.37:g.83478510G>A	ENSP00000286760:p.Gly11Asp						p.G11D	NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN			1	131	+			11					Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	c.32G>A	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131709	0.94473	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.09255	3.0	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00521	-1.1691	10	0.52906	T	0.07	.	18.2166	0.89887	0.0:0.0:1.0:0.0	.	11	Q8TF30	WHAMM_HUMAN	D	11	ENSP00000286760:G11D	ENSP00000234505:G11D	G	+	2	0	WHAMM	81275564	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.840000	0.75369	2.547000	0.85894	0.585000	0.79938	GGC		0.736	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			12	53	0	0	0	1	0	12	53				
GNAZ	2781	broad.mit.edu	37	22	23465529	23465529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23465529G>A	ENST00000248996.4	+	3	1645	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	327					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CTTCACCTGCGCCACCGACAC	0.542																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(979-981)Gcc>Acc		guanine nucleotide binding protein (G protein), alpha z polypeptide							143.0	105.0	118.0					22																	23465529		2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23465529G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.979G>A	22.37:g.23465529G>A	ENSP00000248996:p.Ala327Thr					RTDR1_ENST00000216036.4_Intron	p.A327T	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1645	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		327					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.979G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	36	5.944967	0.97134	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98609	1.0662	10	0.87932	D	0	.	18.4882	0.90836	0.0:0.0:1.0:0.0	.	327	P19086	GNAZ_HUMAN	T	327;275	ENSP00000248996:A327T	ENSP00000248996:A327T	A	+	1	0	GNAZ	21795529	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.596000	0.98267	2.695000	0.91970	0.655000	0.94253	GCC		0.542	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		55	229	0	0	0	1	0	55	229				
ADM2	79924	broad.mit.edu	37	22	50921212	50921212	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50921212C>A	ENST00000395738.2	+	2	619	c.327C>A	c.(325-327)ggC>ggA	p.G109G	ADM2_ENST00000362068.2_Missense_Mutation_p.A26D|ADM2_ENST00000395737.1_Silent_p.G109G	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	109					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGAGTGGGCTGTGTGCTGG	0.687																																						ENST00000362068.2																			0				breast(1)|kidney(1)	2						c.(76-78)gCt>gAt		adrenomedullin 2							8.0	10.0	10.0					22																	50921212		2072	4128	6200	SO:0001819	synonymous_variant	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921212C>A	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.327C>A	22.37:g.50921212C>A						ADM2_ENST00000395738.2_Silent_p.G109G|ADM2_ENST00000395737.1_Silent_p.G109G	p.A26D			Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	592	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	0					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.77C>A	CCDS33682.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128692	0.56721	.	.	ENSG00000128165	ENST00000362068	.	.	.	4.62	3.61	0.41365	.	.	.	.	.	T	0.46964	0.1420	.	.	.	0.24873	N	0.992271	.	.	.	.	.	.	T	0.40232	-0.9574	5	0.87932	D	0	.	10.2761	0.43510	0.0:0.9014:0.0:0.0986	.	.	.	.	D	26	.	ENSP00000354955:A26D	A	+	2	0	ADM2	49268078	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	1.381000	0.34362	0.936000	0.37367	0.448000	0.29417	GCT		0.687	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		22	109	1	0	1.10923e-09	1	1.16946e-09	22	109				
BMP1	649	broad.mit.edu	37	8	22059428	22059428	+	Silent	SNP	C	C	T	rs377456913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22059428C>T	ENST00000306385.5	+	16	2890	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	740	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACAAGCACGACTGCAAAG	0.592																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2218-2220)caC>caT		bone morphogenetic protein 1		C		0,4406		0,0,2203	89.0	63.0	72.0		2220	-6.2	0.2	8		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP1	NM_006129.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		740/987	22059428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22059428C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2220C>T	8.37:g.22059428C>T						BMP1_ENST00000354870.5_3'UTR	p.H740H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	16	2890	+			740			EGF-like 2; calcium-binding (Potential).		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.2220C>T	CCDS6026.1																																																																																				0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		16	100	0	0	0	1	0	16	100				
RARS2	57038	broad.mit.edu	37	6	88272489	88272489	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88272489T>C	ENST00000369536.5	-	4	273	c.228A>G	c.(226-228)acA>acG	p.T76T		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	76					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CACTCACCACTGTATCACATC	0.338																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(226-228)acA>acG		arginyl-tRNA synthetase 2, mitochondrial							113.0	102.0	106.0					6																	88272489		2202	4299	6501	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88272489T>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.228A>G	6.37:g.88272489T>C							p.T76T	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	4	273	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	76					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.228A>G	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	T	8.622	0.891586	0.17613	.	.	ENSG00000146282	ENST00000451155	.	.	.	5.51	4.35	0.52113	.	.	.	.	.	T	0.45054	0.1323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43956	-0.9359	4	.	.	.	.	8.2043	0.31443	0.0:0.0906:0.0:0.9094	.	.	.	.	R	104	.	.	Q	-	2	0	RARS2	88329208	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.098000	0.15189	0.918000	0.36919	-0.256000	0.11100	CAG		0.338	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		41	180	0	0	0	1	0	41	180				
HERC2	8924	broad.mit.edu	37	15	28358723	28358723	+	Missense_Mutation	SNP	G	G	A	rs144912188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358723G>A	ENST00000261609.7	-	91	14123	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCATACCATCGTCTCCAGTTC	0.582																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(14014-14016)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G	MET/THR	0,4406		0,0,2203	85.0	79.0	81.0		14015	5.3	1.0	15	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	HERC2	NM_004667.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4672/4835	28358723	1,13005	2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28358723G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14015C>T	15.37:g.28358723G>A	ENSP00000261609:p.Thr4672Met						p.T4672M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	91	14123	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4672			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.14015C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712289	0.68730	0.0	1.16E-4	ENSG00000128731	ENST00000261609	T	0.58797	0.31	5.33	5.33	0.75918	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	L	0.49640	1.575	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64144	0.788;0.922	T	0.73307	-0.4024	10	0.72032	D	0.01	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	4672;361	O95714;Q8ND39	HERC2_HUMAN;.	M	4672	ENSP00000261609:T4672M	ENSP00000261609:T4672M	T	-	2	0	HERC2	26032318	1.000000	0.71417	0.954000	0.39281	0.172000	0.22775	9.801000	0.99128	2.503000	0.84419	0.561000	0.74099	ACG		0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		40	206	0	0	0	1	0	40	206				
CHGA	1113	broad.mit.edu	37	14	93390551	93390551	+	Silent	SNP	G	G	A	rs9658640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93390551G>A	ENST00000216492.5	+	2	334	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CHGA_ENST00000553866.1_Intron|CHGA_ENST00000334654.4_Silent_p.A18A	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	18					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGTCACTGCGCTCCCTGTGA	0.582																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(52-54)gcG>gcA		chromogranin A (parathyroid secretory protein 1)							50.0	49.0	49.0					14																	93390551		2203	4300	6503	SO:0001819	synonymous_variant	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93390551G>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.54G>A	14.37:g.93390551G>A						CHGA_ENST00000553866.1_Intron|CHGA_ENST00000334654.4_Silent_p.A18A	p.A18A	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	2	334	+		all_cancers(154;0.0843)	18					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	37	c.54G>A	CCDS9906.1																																																																																				0.582	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		20	86	0	0	0	1	0	20	86				
SLC13A5	284111	broad.mit.edu	37	17	6597450	6597450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6597450C>A	ENST00000433363.2	-	8	1355	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	374					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TAAACTTGGGCTTCTGTGAAG	0.537																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(1120-1122)aaG>aaT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							95.0	78.0	84.0					17																	6597450		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6597450C>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1122G>T	17.37:g.6597450C>A	ENSP00000406220:p.Lys374Asn					SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N	p.K374N	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			8	1355	-			374					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.1122G>T	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545704	0.65198	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.05717	3.81;3.4	5.61	4.63	0.57726	.	0.229422	0.49916	D	0.000132	T	0.09992	0.0245	L	0.54965	1.715	0.38078	D	0.93658	P;P;P;P	0.47034	0.592;0.889;0.592;0.592	P;P;P;P	0.49140	0.601;0.543;0.601;0.482	T	0.04607	-1.0939	10	0.28530	T	0.3	.	7.884	0.29640	0.0:0.8298:0.0:0.1702	.	374;331;357;374	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	N	374;374;331	ENSP00000406220:K374N;ENSP00000370464:K331N	ENSP00000293800:K374N	K	-	3	2	SLC13A5	6538174	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.272000	0.33109	2.815000	0.96918	0.561000	0.74099	AAG		0.537	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		19	146	1	0	2.39187e-15	1	2.61288e-15	19	146				
ZSCAN4	201516	broad.mit.edu	37	19	58189722	58189722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58189722G>A	ENST00000318203.5	+	5	1448	c.751G>A	c.(751-753)Gct>Act	p.A251T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	251					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTAGTCACTGCTAGATCTCA	0.493																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(751-753)Gct>Act		zinc finger and SCAN domain containing 4							88.0	81.0	84.0					19																	58189722		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189722G>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.751G>A	19.37:g.58189722G>A	ENSP00000321963:p.Ala251Thr						p.A251T	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1448	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	251					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.751G>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188453	0.21954	.	.	ENSG00000180532	ENST00000318203	T	0.06849	3.25	3.81	-2.06	0.07298	.	2.348450	0.01409	N	0.013930	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.33803	-0.9854	10	0.21014	T	0.42	0.1009	4.7069	0.12855	0.0:0.3152:0.3616:0.3232	.	251	Q8NAM6	ZSCA4_HUMAN	T	251	ENSP00000321963:A251T	ENSP00000321963:A251T	A	+	1	0	ZSCAN4	62881534	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.181000	0.03085	-0.538000	0.06281	-0.262000	0.10625	GCT		0.493	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		49	239	0	0	0	1	0	49	239				
PCMTD2	55251	broad.mit.edu	37	20	62899295	62899295	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62899295C>A	ENST00000308824.6	+	5	765	c.638C>A	c.(637-639)gCt>gAt	p.A213D	PCMTD2_ENST00000369758.4_Intron|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	213						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGATTCTTGCTGTTTCTTTT	0.383																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(637-639)gCt>gAt		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							108.0	102.0	104.0					20																	62899295		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62899295C>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.638C>A	20.37:g.62899295C>A	ENSP00000307854:p.Ala213Asp					PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D|PCMTD2_ENST00000369758.3_Intron	p.A213D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			5	765	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		213					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.638C>A	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	16.84	3.233203	0.58777	.	.	ENSG00000203880	ENST00000299468;ENST00000308824	T;T	0.43294	0.95;0.95	5.4	5.4	0.78164	.	0.049390	0.85682	D	0.000000	T	0.36991	0.0987	L	0.29908	0.895	0.80722	D	1	B	0.24186	0.099	B	0.25140	0.058	T	0.11397	-1.0589	10	0.45353	T	0.12	-18.4738	19.5253	0.95203	0.0:1.0:0.0:0.0	.	213	Q9NV79	PCMD2_HUMAN	D	213	ENSP00000299468:A213D;ENSP00000307854:A213D	ENSP00000299468:A213D	A	+	2	0	PCMTD2	62369739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.879000	0.75572	2.696000	0.92011	0.650000	0.86243	GCT		0.383	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		66	255	1	0	1.33661e-31	1	1.57467e-31	66	255				
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	G	A	rs370739539		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		12486	0.001		0.0	False		,,,				2504	0.0				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2020-2022)gaC>gaT		SREBF chaperone		G		1,4395		0,1,2197	16.0	18.0	17.0		2022	-2.7	0.4	3		17	0,8598		0,0,4299	no	coding-synonymous	SCAP	NM_012235.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		674/1280	47460252	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460252G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2022C>T	3.37:g.47460252G>A						SCAP_ENST00000545718.1_Silent_p.D282D|SCAP_ENST00000441517.2_Silent_p.D419D	p.D674D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	14	2434	-			674					Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.2022C>T	CCDS2755.2																																																																																				0.701	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		12	88	0	0	0	1	0	12	88				
GTF2I	2969	broad.mit.edu	37	7	74114664	74114664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114664C>T	ENST00000324896.4	+	5	850	c.461C>T	c.(460-462)cCg>cTg	p.P154L	GTF2I_ENST00000346152.4_Missense_Mutation_p.P154L|GTF2I_ENST00000416070.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	154					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGGGCTTCCGGAAGGTGTT	0.483																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(460-462)cCg>cTg		general transcription factor IIi							118.0	118.0	118.0					7																	74114664		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114664C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.461C>T	7.37:g.74114664C>T	ENSP00000322542:p.Pro154Leu					AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.P154L|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154L|GTF2I_ENST00000443166.1_Missense_Mutation_p.P154L	p.P154L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			5	850	+			154					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.461C>T	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578469	0.65878	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.41	4.52	0.55395	.	0.165289	0.42294	D	0.000729	D	0.89111	0.6622	M	0.87682	2.9	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;0.998;1.0;1.0;1.0	D	0.90966	0.4816	10	0.87932	D	0	-11.075	14.68	0.69009	0.1461:0.8539:0.0:0.0	.	154;154;154;154;154;154	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	L	154;149;154;154;154;154	ENSP00000322542:P154L;ENSP00000322671:P154L;ENSP00000322599:P154L;ENSP00000387651:P154L;ENSP00000404240:P154L	ENSP00000322542:P154L	P	+	2	0	GTF2I	73752600	1.000000	0.71417	0.865000	0.33974	0.571000	0.35966	5.436000	0.66538	1.270000	0.44297	0.484000	0.47621	CCG		0.483	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		154	609	0	0	0	1	0	154	609				
PCSK5	5125	broad.mit.edu	37	9	78506218	78506218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78506218G>A	ENST00000545128.1	+	1	659	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	PCSK5_ENST00000376752.4_Missense_Mutation_p.V41I|PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	41					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCACTGGGCAGTCAAAATCGC	0.637																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(121-123)Gtc>Atc		proprotein convertase subtilisin/kexin type 5							54.0	65.0	61.0					9																	78506218		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78506218G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.121G>A	9.37:g.78506218G>A	ENSP00000446280:p.Val41Ile					PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I|PCSK5_ENST00000376752.4_Missense_Mutation_p.V41I	p.V41I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			1	659	+			41					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.121G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069113	0.93950	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.46819	0.86;0.86;0.86	5.17	5.17	0.71159	.	.	.	.	.	T	0.63414	0.2509	M	0.80332	2.49	0.50632	D	0.999883	P;B	0.49447	0.924;0.264	P;B	0.51266	0.664;0.17	T	0.70121	-0.4959	9	0.72032	D	0.01	.	17.4482	0.87584	0.0:0.0:1.0:0.0	.	41;41	Q92824-2;B1AMG5	.;.	I	41	ENSP00000446280:V41I;ENSP00000365958:V41I;ENSP00000365943:V41I	ENSP00000365943:V41I	V	+	1	0	PCSK5	77696038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.471000	0.66762	2.407000	0.81776	0.561000	0.74099	GTC		0.637	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				111	509	0	0	0	1	0	111	509				
LRP1	4035	broad.mit.edu	37	12	57590814	57590814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57590814C>T	ENST00000243077.3	+	56	9408	c.8942C>T	c.(8941-8943)gCt>gTt	p.A2981V	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2981	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGACGTGTGCTGATGTGGAC	0.652																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8941-8943)gCt>gTt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						81.0	74.0	76.0					12																	57590814		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57590814C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8942C>T	12.37:g.57590814C>T	ENSP00000243077:p.Ala2981Val						p.A2981V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	56	9408	+			2981			EGF-like 11.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8942C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145484	0.37825	.	.	ENSG00000123384	ENST00000243077	D	0.93189	-3.18	5.34	4.45	0.53987	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.427349	0.21337	N	0.076199	D	0.82375	0.5023	N	0.05078	-0.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75291	-0.3369	10	0.24483	T	0.36	.	7.1939	0.25841	0.0:0.7505:0.0:0.2495	.	2981	Q07954	LRP1_HUMAN	V	2981	ENSP00000243077:A2981V	ENSP00000243077:A2981V	A	+	2	0	LRP1	55877081	0.900000	0.30661	0.607000	0.28956	0.903000	0.53119	3.175000	0.50855	1.489000	0.48450	0.511000	0.50034	GCT		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		26	234	0	0	0	1	0	26	234				
KRT19P2	160313	broad.mit.edu	37	12	95228587	95228587	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95228587C>T	ENST00000405395.2	+	0	358				MIR492_ENST00000385303.1_RNA	NR_036685.1				keratin 19 pseudogene 2																		GGAACTGAACCAGGAGGTCAC	0.542																																						ENST00000405395.2																			0																																																			0							g.chr12:95228587C>T			12q22	2013-06-25			ENSG00000216306	ENSG00000216306			33423	pseudogene	pseudogene			"""keratin 19 pseudogene 5"""	KRT19P5			Standard	NR_036685		Approved		uc001tdk.2		OTTHUMG00000170700		12.37:g.95228587C>T								NR_036685.1						0	358	+									RNA	SNP	ENST00000405395.2	37																																																																																						0.542	KRT19P2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000410053.1	NT_019546		8	43	0	0	0	1	0	8	43				
SP2	6668	broad.mit.edu	37	17	46002805	46002805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46002805C>T	ENST00000376741.4	+	6	1776	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	547					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TGCCCATGTGCGCCTGCACAC	0.592																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1639-1641)Cgc>Tgc		Sp2 transcription factor							175.0	158.0	164.0					17																	46002805		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46002805C>T		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1639C>T	17.37:g.46002805C>T	ENSP00000365931:p.Arg547Cys					AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	p.R547C	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			6	1776	+			547					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.1639C>T	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415481	0.83449	.	.	ENSG00000167182	ENST00000376741	T	0.25749	1.78	4.87	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.61806	-0.6987	10	0.87932	D	0	.	16.9362	0.86203	0.0:1.0:0.0:0.0	.	547	Q02086	SP2_HUMAN	C	547	ENSP00000365931:R547C	ENSP00000365931:R547C	R	+	1	0	SP2	43357804	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.873000	0.69644	2.531000	0.85337	0.462000	0.41574	CGC		0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		174	798	0	0	0	1	0	174	798				
PCNT	5116	broad.mit.edu	37	21	47769729	47769729	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769729C>A	ENST00000359568.5	+	8	1446	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	447	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAAAAACAGCTGGAGGTGGG	0.418																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1339-1341)Ctg>Atg		pericentrin							65.0	68.0	67.0					21																	47769729		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769729C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1339C>A	21.37:g.47769729C>A	ENSP00000352572:p.Leu447Met					PCNT_ENST00000480896.1_3'UTR	p.L447M	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			8	1446	+	Breast(49;0.112)		447			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1339C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748161	0.30955	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27256	1.68	3.98	3.08	0.35506	.	1.083490	0.07525	N	0.911145	T	0.38585	0.1046	L	0.42245	1.32	0.09310	N	0.999999	D;D	0.71674	0.998;0.997	D;D	0.70935	0.971;0.936	T	0.18147	-1.0346	10	0.48119	T	0.1	.	4.6375	0.12531	0.2353:0.6496:0.0:0.1151	.	329;447	O95613-2;O95613	.;PCNT_HUMAN	M	447;434	ENSP00000352572:L447M	ENSP00000338675:L434M	L	+	1	2	PCNT	46594157	0.633000	0.27181	0.235000	0.24058	0.204000	0.24138	0.734000	0.26101	1.269000	0.44280	0.551000	0.68910	CTG		0.418	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		20	281	1	0	7.41877e-09	1	7.77385e-09	20	281				
RNASET2	8635	broad.mit.edu	37	6	167344532	167344532	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167344532C>A	ENST00000508775.1	-	8	1086	c.567G>T	c.(565-567)caG>caT	p.Q189H	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000366855.6_Splice_Site_p.Q151H|RNASET2_ENST00000476238.2_Splice_Site_p.Q189H|RNASET2_ENST00000496851.2_5'Flank	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	189					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ACTGTCTAACCTGGCTTGGTG	0.418																																						ENST00000366855.6																			0				large_intestine(4)|lung(4)	8						c.e9+1		ribonuclease T2							161.0	152.0	155.0					6																	167344532		2203	4300	6503	SO:0001630	splice_region_variant	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167344532C>A	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.567+1G>T	6.37:g.167344532C>A						RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Splice_Site_p.Q189_splice|RNASET2_ENST00000508775.1_Splice_Site_p.Q189_splice	p.Q151_splice			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	9	1128	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	189					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Splice_Site	SNP	ENST00000508775.1	37	c.453_splice	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379746	0.42207	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.5	4.5	0.54988	.	0.705587	0.14459	N	0.318337	D	0.82527	0.5056	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.71674	0.998;0.997	D;D	0.73708	0.981;0.925	T	0.81769	-0.0781	9	.	.	.	-17.1781	14.7166	0.69275	0.0:1.0:0.0:0.0	.	239;189	C9JIU8;O00584	.;RNT2_HUMAN	H	151;189;239;189;189	ENSP00000424947:Q151H;ENSP00000426455:Q189H;ENSP00000422846:Q189H;ENSP00000426059:Q189H	.	Q	-	3	2	RNASET2	167264522	1.000000	0.71417	0.212000	0.23672	0.083000	0.17756	3.989000	0.56958	2.045000	0.60652	0.563000	0.77884	CAG		0.418	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730	Missense_Mutation	110	477	1	0	5.94134e-38	1	7.14835e-38	110	477				
NALCN	259232	broad.mit.edu	37	13	101714357	101714357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101714357C>T	ENST00000251127.6	-	41	4799	c.4718G>A	c.(4717-4719)cGc>cAc	p.R1573H	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1573					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGCCACATGCGGATGGTCTG	0.637																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(4717-4719)cGc>cAc		sodium leak channel, non-selective							125.0	90.0	102.0					13																	101714357		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101714357C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4718G>A	13.37:g.101714357C>T	ENSP00000251127:p.Arg1573His						p.R1573H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			41	4799	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1573					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4718G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441723	0.96187	.	.	ENSG00000102452	ENST00000251127	D	0.98090	-4.71	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99379	1.0922	10	0.72032	D	0.01	.	20.0931	0.97828	0.0:1.0:0.0:0.0	.	1573	Q8IZF0	NALCN_HUMAN	H	1573	ENSP00000251127:R1573H	ENSP00000251127:R1573H	R	-	2	0	NALCN	100512358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.759000	0.94783	0.650000	0.86243	CGC		0.637	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		59	302	0	0	0	1	0	59	302				
DNAH3	55567	broad.mit.edu	37	16	20974849	20974849	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20974849C>A	ENST00000261383.3	-	53	10356	c.10357G>T	c.(10357-10359)Gcc>Tcc	p.A3453S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3453					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGGCCAGGCCGAGTCATAG	0.527																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10357-10359)Gcc>Tcc		dynein, axonemal, heavy chain 3							95.0	77.0	83.0					16																	20974849		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20974849C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10357G>T	16.37:g.20974849C>A	ENSP00000261383:p.Ala3453Ser					DNAH3_ENST00000415178.1_3'UTR	p.A3453S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10356	-			3453					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10357G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.031049	0.02029	.	.	ENSG00000158486	ENST00000261383	T	0.08102	3.13	5.39	2.25	0.28309	Dynein heavy chain (1);	0.299368	0.30575	N	0.009337	T	0.02970	0.0088	N	0.04297	-0.235	0.21020	N	0.99981	B	0.11235	0.004	B	0.20384	0.029	T	0.46762	-0.9168	10	0.09338	T	0.73	.	5.3477	0.16018	0.2812:0.5656:0.0:0.1533	.	3453	Q8TD57	DYH3_HUMAN	S	3453	ENSP00000261383:A3453S	ENSP00000261383:A3453S	A	-	1	0	DNAH3	20882350	0.987000	0.35691	0.761000	0.31378	0.782000	0.44232	2.256000	0.43231	0.210000	0.20664	0.563000	0.77884	GCC		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		65	215	1	0	2.89935e-36	1	3.46963e-36	65	215				
GRM7	2917	broad.mit.edu	37	3	6903264	6903264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903264C>T	ENST00000357716.4	+	1	463	c.189C>T	c.(187-189)agC>agT	p.S63S	GRM7_ENST00000486284.1_Silent_p.S63S|GRM7_ENST00000402647.2_Silent_p.S63S|GRM7_ENST00000403881.1_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	63					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						AGGGTCCCAGCGGAGTGCCCT	0.662																																						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.(187-189)agC>agT		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						21.0	22.0	21.0					3																	6903264		2201	4298	6499	SO:0001819	synonymous_variant	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.chr3:6903264C>T	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.189C>T	3.37:g.6903264C>T						GRM7_ENST00000403881.1_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S|GRM7_ENST00000357716.4_Silent_p.S63S|GRM7_ENST00000402647.2_Silent_p.S63S	p.S63S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	463	+			63					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.189C>T	CCDS43042.1																																																																																				0.662	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		12	78	0	0	0	1	0	12	78				
UNC5A	90249	broad.mit.edu	37	5	176306485	176306485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176306485G>A	ENST00000329542.4	+	14	2633	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	787	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCACCTGGACAGGTGGGC	0.677																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(2359-2361)Gac>Aac		unc-5 homolog A (C. elegans)							33.0	43.0	40.0					5																	176306485		2202	4295	6497	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306485G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2359G>A	5.37:g.176306485G>A	ENSP00000332737:p.Asp787Asn					UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	p.D787N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2633	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	787			Death.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2359G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407567	0.83340	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86297	-2.1;-2.1	5.06	5.06	0.68205	Death (2);DEATH-like (2);	0.059778	0.64402	D	0.000003	D	0.86053	0.5841	L	0.45581	1.43	0.51482	D	0.999926	B	0.28350	0.208	B	0.37091	0.241	T	0.83186	-0.0086	10	0.35671	T	0.21	-50.0007	17.1651	0.86814	0.0:0.0:1.0:0.0	.	787	Q6ZN44	UNC5A_HUMAN	N	787;747	ENSP00000332737:D787N;ENSP00000261961:D747N	ENSP00000261961:D747N	D	+	1	0	UNC5A	176239091	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.816000	0.86201	2.630000	0.89119	0.491000	0.48974	GAC		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		34	684	0	0	0	1	0	34	684				
CDC42BPG	55561	broad.mit.edu	37	11	64599088	64599088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64599088G>A	ENST00000342711.5	-	28	3192	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCAGCCGCTGCAGCTCACCC	0.692											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3193-3195)Cag>Tag		CDC42 binding protein kinase gamma (DMPK-like)							29.0	29.0	29.0					11																	64599088		2198	4294	6492	SO:0001587	stop_gained	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64599088G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3193C>T	11.37:g.64599088G>A	ENSP00000345133:p.Gln1065*		OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	CDC42BPG_ENST00000491280.1_5'UTR	p.Q1065*	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			28	3192	-			1065			PH.			Nonsense_Mutation	SNP	ENST00000342711.5	37	c.3193C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	40	8.391436	0.98791	.	.	ENSG00000171219	ENST00000342711	.	.	.	3.85	3.85	0.44370	.	0.000000	0.38111	N	0.001805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.6836	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	X	1065	.	ENSP00000345133:Q1065X	Q	-	1	0	CDC42BPG	64355664	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.325000	0.65869	2.167000	0.68274	0.313000	0.20887	CAG		0.692	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		37	147	0	0	0	1	0	37	147				
SF3B3	23450	broad.mit.edu	37	16	70589013	70589013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589013C>T	ENST00000302516.5	+	13	1825	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	538					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGAAGACCCCTGGAAAGA	0.458																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1612-1614)acC>acT		splicing factor 3b, subunit 3, 130kDa							194.0	185.0	188.0					16																	70589013		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589013C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1614C>T	16.37:g.70589013C>T							p.T538T	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			13	1825	+		Ovarian(137;0.0694)	538					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1614C>T	CCDS10894.1																																																																																				0.458	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		68	359	0	0	0	1	0	68	359				
PLXND1	23129	broad.mit.edu	37	3	129281956	129281956	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129281956T>C	ENST00000324093.4	-	26	4827	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	PLXND1_ENST00000393239.1_Missense_Mutation_p.N1550S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGCCTCGATGTTCTCCCGCAG	0.642																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4648-4650)aAc>aGc		plexin D1							55.0	51.0	52.0					3																	129281956		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129281956T>C	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4649A>G	3.37:g.129281956T>C	ENSP00000317128:p.Asn1550Ser					PLXND1_ENST00000324093.4_Missense_Mutation_p.N1550S	p.N1550S			Q9Y4D7	PLXD1_HUMAN			26	4827	-			1550					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4649A>G	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038040	0.75617	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.10668	2.85;2.85	5.25	5.25	0.73442	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.167597	0.51477	D	0.000094	T	0.18923	0.0454	N	0.16790	0.44	0.58432	D	0.999999	P;D	0.89917	0.945;1.0	P;D	0.87578	0.511;0.998	T	0.08554	-1.0716	10	0.42905	T	0.14	.	15.1774	0.72924	0.0:0.0:0.0:1.0	.	145;1550	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	S	1550	ENSP00000317128:N1550S;ENSP00000376931:N1550S	ENSP00000317128:N1550S	N	-	2	0	PLXND1	130764646	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.830000	0.86741	1.988000	0.58038	0.379000	0.24179	AAC		0.642	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		53	201	0	0	0	1	0	53	201				
MAPRE1	22919	broad.mit.edu	37	20	31424452	31424452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31424452G>A	ENST00000375571.5	+	4	419	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	94	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AATTCCTGTGGACAAATTAGT	0.363																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(280-282)Gac>Aac		microtubule-associated protein, RP/EB family, member 1							44.0	46.0	45.0					20																	31424452		2203	4299	6502	SO:0001583	missense	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31424452G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.280G>A	20.37:g.31424452G>A	ENSP00000364721:p.Asp94Asn						p.D94N	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			4	419	+			94			CH.		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.280G>A	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138938	0.94560	.	.	ENSG00000101367	ENST00000375571	D	0.94931	-3.56	4.45	4.45	0.53987	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.94204	0.7452	10	0.35671	T	0.21	-11.7265	16.6237	0.84936	0.0:0.0:1.0:0.0	.	94	Q15691	MARE1_HUMAN	N	94	ENSP00000364721:D94N	ENSP00000364721:D94N	D	+	1	0	MAPRE1	30888113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.422000	0.97458	2.465000	0.83290	0.655000	0.94253	GAC		0.363	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		41	230	0	0	0	1	0	41	230				
SLC17A9	63910	broad.mit.edu	37	20	61594714	61594714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61594714G>A	ENST00000370351.4	+	6	849	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.A234T	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	240					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCGGAAGCCTGCTGTCTGGTG	0.662																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(700-702)Gct>Act		solute carrier family 17 (vesicular nucleotide transporter), member 9							35.0	40.0	39.0					20																	61594714		1988	4153	6141	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594714G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.718G>A	20.37:g.61594714G>A	ENSP00000359376:p.Ala240Thr					SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.A240T	p.A234T			Q9BYT1	S17A9_HUMAN			7	904	+			240					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.700G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881654	0.51908	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58506	0.33;0.33	4.86	-0.457	0.12186	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169290	0.52532	D	0.000070	T	0.62600	0.2441	M	0.69523	2.12	0.39879	D	0.973615	P;B;B	0.35033	0.481;0.17;0.294	P;P;B	0.48982	0.597;0.474;0.343	T	0.62388	-0.6865	10	0.72032	D	0.01	.	6.8034	0.23764	0.0:0.1911:0.6399:0.169	.	260;240;234	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	T	240;234	ENSP00000359376:A240T;ENSP00000359374:A234T	ENSP00000359374:A234T	A	+	1	0	SLC17A9	61065159	0.865000	0.29922	0.985000	0.45067	0.768000	0.43524	1.349000	0.33998	-0.045000	0.13468	0.313000	0.20887	GCT		0.662	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		28	143	0	0	0	1	0	28	143				
NOTCH4	4855	broad.mit.edu	37	6	32190464	32190464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190464C>A	ENST00000375023.3	-	3	413	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	92	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGGAGAGCTGGGGAGCCC	0.617																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(274-276)aGc>aTc		notch 4							72.0	76.0	74.0					6																	32190464		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32190464C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.275G>T	6.37:g.32190464C>A	ENSP00000364163:p.Ser92Ile						p.S92I	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			3	413	-			92			EGF-like 2.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.275G>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	7.381	0.628773	0.14257	.	.	ENSG00000204301	ENST00000375023	T	0.11821	2.74	3.12	3.12	0.35913	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.987505	0.08238	N	0.976480	T	0.06962	0.0177	N	0.14661	0.345	0.33880	D	0.636028	D;P	0.58970	0.984;0.836	P;B	0.50754	0.649;0.329	T	0.19811	-1.0294	10	0.87932	D	0	.	9.9622	0.41704	0.0:1.0:0.0:0.0	.	92;92	Q6P3V5;Q99466	.;NOTC4_HUMAN	I	92	ENSP00000364163:S92I	ENSP00000364163:S92I	S	-	2	0	NOTCH4	32298442	0.003000	0.15002	0.006000	0.13384	0.033000	0.12548	1.745000	0.38278	2.051000	0.60960	0.555000	0.69702	AGC		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			86	392	1	0	1.3466e-33	1	1.59697e-33	86	392				
ACLY	47	broad.mit.edu	37	17	40040492	40040492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40040492C>T	ENST00000352035.2	-	19	2238	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ACLY_ENST00000537919.1_Missense_Mutation_p.R432H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H|ACLY_ENST00000590151.1_Missense_Mutation_p.R703H|ACLY_ENST00000393896.2_Missense_Mutation_p.R693H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	703					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTCCTGATAGCGTAACACATG	0.438																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2107-2109)cGc>cAc		ATP citrate lyase							89.0	79.0	82.0					17																	40040492		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40040492C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2108G>A	17.37:g.40040492C>T	ENSP00000253792:p.Arg703His					ACLY_ENST00000393896.2_Missense_Mutation_p.R693H|ACLY_ENST00000590151.1_Missense_Mutation_p.R703H|ACLY_ENST00000537919.1_Missense_Mutation_p.R432H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H	p.R703H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			19	2238	-		Breast(137;0.000143)	703					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.2108G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969705	0.92855	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.69	5.69	0.88448	Succinyl-CoA synthetase-like (1);Citrate synthase-like, core (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	H	0.96015	3.755	0.80722	D	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	0.954;1.0;1.0;1.0;0.999	D	0.93454	0.6804	10	0.87932	D	0	.	19.8073	0.96535	0.0:1.0:0.0:0.0	.	432;747;757;693;703	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	703;757;693;432;693	ENSP00000253792:R703H;ENSP00000345398:R693H;ENSP00000445349:R432H;ENSP00000377474:R693H	ENSP00000253792:R703H	R	-	2	0	ACLY	37294018	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	7.704000	0.84595	2.685000	0.91497	0.455000	0.32223	CGC		0.438	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		42	164	0	0	0	1	0	42	164				
NUP188	23511	broad.mit.edu	37	9	131755935	131755935	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755935G>A	ENST00000372577.2	+	27	3000	c.2979G>A	c.(2977-2979)caG>caA	p.Q993Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	993					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTCTGTGGCAGGATCGGAGGG	0.512																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2977-2979)caG>caA		nucleoporin 188kDa							112.0	89.0	97.0					9																	131755935		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131755935G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2979G>A	9.37:g.131755935G>A							p.Q993Q	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			27	3000	+			993					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.2979G>A	CCDS35156.1																																																																																				0.512	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			57	230	0	0	0	1	0	57	230				
KIAA1211	57482	broad.mit.edu	37	4	57179456	57179456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179456G>A	ENST00000504228.1	+	5	553	c.448G>A	c.(448-450)Gct>Act	p.A150T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T			Q6ZU35	K1211_HUMAN	KIAA1211	150										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCTGGCCATCGCTCGCCTGGA	0.552																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(448-450)Gct>Act		KIAA1211							132.0	140.0	137.0					4																	57179456		2052	4173	6225	SO:0001583	missense	57482							g.chr4:57179456G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.448G>A	4.37:g.57179456G>A	ENSP00000423366:p.Ala150Thr					KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T	p.A150T			Q6ZU35	K1211_HUMAN			5	553	+	Glioma(25;0.08)|all_neural(26;0.101)		150					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.448G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301535	0.60195	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.14640	2.49;2.49;2.52	5.4	3.64	0.41730	.	.	.	.	.	T	0.16471	0.0396	M	0.69823	2.125	0.36295	D	0.856633	P;P;P	0.51653	0.947;0.861;0.861	B;B;B	0.42319	0.383;0.123;0.123	T	0.17837	-1.0356	9	0.52906	T	0.07	-15.0899	7.9937	0.30256	0.1378:0.1383:0.7239:0.0	.	143;143;150	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	150;150;143;60	ENSP00000264229:A150T;ENSP00000423366:A150T;ENSP00000444006:A143T	ENSP00000264229:A150T	A	+	1	0	KIAA1211	56874213	0.999000	0.42202	0.978000	0.43139	0.951000	0.60555	3.380000	0.52448	1.261000	0.44149	0.491000	0.48974	GCT		0.552	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		28	821	0	0	0	1	0	28	821				
ZNF775	285971	broad.mit.edu	37	7	150094613	150094613	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094613G>T	ENST00000329630.5	+	3	1151	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTTCCGCCAGAAGCAGCACC	0.741																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(1042-1044)caG>caT		zinc finger protein 775							4.0	5.0	5.0					7																	150094613		1879	3801	5680	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094613G>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1044G>T	7.37:g.150094613G>T	ENSP00000330838:p.Gln348His						p.Q348H	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1151	+	Ovarian(565;0.183)|Melanoma(164;0.226)		348					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.1044G>T	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306995	0.60305	.	.	ENSG00000196456	ENST00000329630	T	0.15487	2.42	3.78	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	N	0.21142	0.635	0.29595	N	0.848147	P	0.47604	0.898	P	0.57204	0.815	T	0.03566	-1.1024	8	.	.	.	.	7.0796	0.25223	0.1239:0.0:0.8761:0.0	.	348	Q96BV0	ZN775_HUMAN	H	348	ENSP00000330838:Q348H	.	Q	+	3	2	ZNF775	149725546	0.000000	0.05858	1.000000	0.80357	0.865000	0.49528	0.056000	0.14256	1.931000	0.55961	0.313000	0.20887	CAG		0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		8	42	1	0	1.12685e-05	1	1.15515e-05	8	42				
DPY19L4	286148	broad.mit.edu	37	8	95802019	95802019	+	Nonsense_Mutation	SNP	C	C	T	rs145854417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95802019C>T	ENST00000414645.2	+	19	2152	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	KB-1608C10.2_ENST00000510185.2_RNA|KB-1608C10.2_ENST00000521706.1_RNA	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	685						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAAATATGGGCGATTTTGTCA	0.294													C|||	3	0.000599042	0.0	0.0	5008	,	,		18465	0.0		0.003	False		,,,				2504	0.0					ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(2053-2055)Cga>Tga		dpy-19-like 4 (C. elegans)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	102.0	99.0		2053	2.3	0.9	8	dbSNP_134	99	3,8593	3.0+/-9.4	0,3,4295	yes	stop-gained	DPY19L4	NM_181787.2		0,4,6497	TT,TC,CC		0.0349,0.0227,0.0308		685/724	95802019	4,12998	2203	4298	6501	SO:0001587	stop_gained	286148					integral to membrane		g.chr8:95802019C>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.2053C>T	8.37:g.95802019C>T	ENSP00000389630:p.Arg685*						p.R685*	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			19	2152	+	Breast(36;3.85e-06)		685					Q6ZW32|Q6ZW42|Q7Z329	Nonsense_Mutation	SNP	ENST00000414645.2	37	c.2053C>T	CCDS34924.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	37	6.156228	0.97334	2.27E-4	3.49E-4	ENSG00000156162	ENST00000414645	.	.	.	5.19	2.33	0.28932	.	0.060745	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1931	14.719	0.69291	0.3827:0.6173:0.0:0.0	.	.	.	.	X	685	.	ENSP00000389630:R685X	R	+	1	2	DPY19L4	95871195	1.000000	0.71417	0.941000	0.38009	0.989000	0.77384	1.520000	0.35899	0.238000	0.21222	0.557000	0.71058	CGA		0.294	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		73	477	0	0	0	1	0	73	477				
C2CD2L	9854	broad.mit.edu	37	11	118983078	118983078	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983078C>A	ENST00000528586.1	+	4	374	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	C2CD2L_ENST00000336702.3_Missense_Mutation_p.L354M			O14523	C2C2L_HUMAN	C2CD2-like	354						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCAAAGTGCTGAGGAGCAG	0.617																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1060-1062)Ctg>Atg		C2CD2-like							44.0	49.0	47.0					11																	118983078		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118983078C>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.304C>A	11.37:g.118983078C>A	ENSP00000433600:p.Leu102Met					C2CD2L_ENST00000528586.1_Missense_Mutation_p.L102M	p.L354M	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			8	1419	+			354					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1060C>A		.	.	.	.	.	.	.	.	.	.	C	16.69	3.193660	0.58017	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.39997	1.05;1.05	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);	0.248717	0.34200	N	0.004165	T	0.40347	0.1113	L	0.27053	0.805	0.40008	D	0.975241	P;P	0.37158	0.585;0.585	P;P	0.48425	0.577;0.577	T	0.19160	-1.0314	10	0.31617	T	0.26	-18.7603	11.3936	0.49827	0.0:0.9181:0.0:0.0819	.	354;354	O14523;O14523-2	C2C2L_HUMAN;.	M	354;102	ENSP00000338885:L354M;ENSP00000433600:L102M	ENSP00000338885:L354M	L	+	1	2	C2CD2L	118488288	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.738000	0.26158	2.731000	0.93534	0.591000	0.81541	CTG		0.617	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		37	213	1	0	8.73648e-17	1	9.61379e-17	37	213				
RAI14	26064	broad.mit.edu	37	5	34803869	34803869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34803869G>T	ENST00000265109.3	+	5	596	c.309G>T	c.(307-309)agG>agT	p.R103S	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S|RAI14_ENST00000506376.1_Missense_Mutation_p.R95S|RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S|RAI14_ENST00000515799.1_Missense_Mutation_p.R106S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	103						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AATGCATCAGGAAGCTGCTTC	0.368																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(307-309)agG>agT		retinoic acid induced 14							52.0	51.0	51.0					5																	34803869		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34803869G>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.309G>T	5.37:g.34803869G>T	ENSP00000265109:p.Arg103Ser					RAI14_ENST00000506376.1_Missense_Mutation_p.R95S|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S|RAI14_ENST00000515799.1_Missense_Mutation_p.R106S|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S	p.R103S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			5	596	+	all_lung(31;0.000191)		103					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.309G>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559349	0.65538	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.59169	0.2174	L	0.45352	1.415	0.43756	D	0.996265	B;B;B;B	0.23806	0.073;0.09;0.091;0.09	B;B;B;B	0.26770	0.033;0.055;0.073;0.055	T	0.54043	-0.8352	9	0.46703	T	0.11	-7.3379	18.5214	0.90954	0.0:0.0:1.0:0.0	.	95;103;106;103	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	103;103;103;103;103;103;103;103;103;103;106;103;103;95;96	ENSP00000265109:R103S;ENSP00000424879:R103S;ENSP00000422112:R103S;ENSP00000422377:R103S;ENSP00000388725:R103S;ENSP00000421424:R103S;ENSP00000422942:R103S;ENSP00000422515:R103S;ENSP00000422114:R103S;ENSP00000424502:R103S;ENSP00000427123:R106S;ENSP00000426770:R103S;ENSP00000425115:R103S;ENSP00000423854:R95S;ENSP00000380591:R96S	ENSP00000265109:R103S	R	+	3	2	RAI14	34839626	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.180000	0.65048	2.814000	0.96858	0.655000	0.94253	AGG		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		17	72	1	0	4.35082e-09	1	4.56966e-09	17	72				
CARD11	84433	broad.mit.edu	37	7	2974175	2974175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2974175G>A	ENST00000396946.4	-	10	1833	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	477					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGAGGTGGAAGAATCGTCAGC	0.577			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1429-1431)tCt>tTt		caspase recruitment domain family, member 11							113.0	97.0	102.0					7																	2974175		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2974175G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1430C>T	7.37:g.2974175G>A	ENSP00000380150:p.Ser477Phe						p.S477F	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	10	1833	-		Ovarian(82;0.0115)	477					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1430C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086310	0.20390	.	.	ENSG00000198286	ENST00000396946	T	0.53423	0.62	5.22	5.22	0.72569	.	0.447184	0.25369	N	0.031174	T	0.26629	0.0651	N	0.08118	0	0.27585	N	0.949457	B	0.18166	0.026	B	0.14023	0.01	T	0.10405	-1.0631	10	0.25106	T	0.35	-15.0704	11.2701	0.49133	0.0835:0.0:0.9165:0.0	.	477	Q9BXL7	CAR11_HUMAN	F	477	ENSP00000380150:S477F	ENSP00000380150:S477F	S	-	2	0	CARD11	2940701	0.809000	0.29036	0.108000	0.21378	0.170000	0.22686	2.543000	0.45752	2.458000	0.83093	0.561000	0.74099	TCT		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		36	189	0	0	0	1	0	36	189				
CFAP36	112942	broad.mit.edu	37	2	55756108	55756108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55756108G>A	ENST00000349456.4	+	4	525	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q			Q96G28	CFA36_HUMAN		126								p.R126Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAGCCATTCGAATAATTCAA	0.333																																						ENST00000349456.4																			1	Substitution - Missense(1)	p.R126Q(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(376-378)cGa>cAa		coiled-coil domain containing 104							55.0	55.0	55.0					2																	55756108		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55756108G>A																												ENST00000349456.4:c.377G>A	2.37:g.55756108G>A	ENSP00000295117:p.Arg126Gln					CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q|CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q	p.R126Q			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	525	+			126					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.377G>A	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829275	0.71258	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.30714	2.22;1.52;2.24;2.29;1.52	6.17	5.3	0.74995	.	0.058328	0.64402	D	0.000002	T	0.28034	0.0691	L	0.34521	1.04	0.48236	D	0.999614	P;D	0.58620	0.874;0.983	B;B	0.44315	0.117;0.446	T	0.02070	-1.1219	10	0.33141	T	0.24	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	126;151	Q96G28;Q96G28-2	CC104_HUMAN;.	Q	151;126;126;126;126	ENSP00000342699:R151Q;ENSP00000385400:R126Q;ENSP00000295117:R126Q;ENSP00000385376:R126Q;ENSP00000385972:R126Q	ENSP00000342699:R151Q	R	+	2	0	CCDC104	55609612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.873000	0.63057	1.620000	0.50308	0.655000	0.94253	CGA		0.333	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			17	211	0	0	0	1	0	17	211				
BPGM	669	broad.mit.edu	37	7	134346540	134346540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134346540C>T	ENST00000393132.2	+	3	770	c.281C>T	c.(280-282)gCc>gTc	p.A94V	BPGM_ENST00000418040.1_Missense_Mutation_p.A94V|BPGM_ENST00000344924.3_Missense_Mutation_p.A94V	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	94					carbohydrate metabolic process (GO:0005975)|erythrocyte development (GO:0048821)|glycolytic process (GO:0006096)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CACTATGGGGCCTTGATCGGT	0.532																																						ENST00000393132.2																			0				breast(1)|endometrium(1)|lung(2)|stomach(1)	5						c.(280-282)gCc>gTc		2,3-bisphosphoglycerate mutase							73.0	68.0	70.0					7																	134346540		2203	4300	6503	SO:0001583	missense	669				glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chr7:134346540C>T	BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	5.4.2.4		1093	protein-coding gene	gene with protein product		613896					Standard	NM_199186		Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.281C>T	7.37:g.134346540C>T	ENSP00000376840:p.Ala94Val					BPGM_ENST00000344924.3_Missense_Mutation_p.A94V|BPGM_ENST00000418040.1_Missense_Mutation_p.A94V	p.A94V	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN			3	770	+			94					A4D1N9	Missense_Mutation	SNP	ENST00000393132.2	37	c.281C>T	CCDS5833.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118106	0.94385	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	T;T;T	0.72282	-0.64;-0.64;-0.64	6.02	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.090205	0.85682	D	0.000000	T	0.79975	0.4539	M	0.63169	1.94	0.80722	D	1	D	0.67145	0.996	P	0.57324	0.818	T	0.82727	-0.0314	10	0.87932	D	0	-9.1969	17.3607	0.87349	0.0:0.875:0.125:0.0	.	94	P07738	PMGE_HUMAN	V	94	ENSP00000342032:A94V;ENSP00000399838:A94V;ENSP00000376840:A94V	ENSP00000342032:A94V	A	+	2	0	BPGM	133997080	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.092000	0.71414	1.543000	0.49345	0.650000	0.86243	GCC		0.532	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339763.1	NM_001724		37	188	0	0	0	1	0	37	188				
NIM1K	167359	broad.mit.edu	37	5	43280362	43280362	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43280362A>C	ENST00000512796.1	+	4	2341	c.842A>C	c.(841-843)aAg>aCg	p.K281T	NIM1_ENST00000326035.2_Missense_Mutation_p.K281T			Q8IY84	NIM1_HUMAN		281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										AAACTAAAAAAGAGCATCCTC	0.557																																						ENST00000512796.1																			0											c.(841-843)aAg>aCg									87.0	72.0	77.0					5																	43280362		2203	4300	6503	SO:0001583	missense	0						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280362A>C																												ENST00000512796.1:c.842A>C	5.37:g.43280362A>C	ENSP00000420849:p.Lys281Thr					NIM1_ENST00000326035.2_Missense_Mutation_p.K281T	p.K281T			Q8IY84	NIM1_HUMAN			4	2341	+			281			Protein kinase.		B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.842A>C	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.245485	0.22796	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.65916	-0.18;-0.18	5.73	3.33	0.38152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.188863	0.45867	D	0.000326	T	0.53883	0.1824	L	0.48362	1.52	0.45066	D	0.998086	B	0.09022	0.002	B	0.19666	0.026	T	0.49485	-0.8935	10	0.56958	D	0.05	.	10.0308	0.42099	0.8633:0.0:0.1367:0.0	.	281	Q8IY84	NIM1_HUMAN	T	281	ENSP00000313572:K281T;ENSP00000420849:K281T	ENSP00000313572:K281T	K	+	2	0	AC114947.1	43316119	1.000000	0.71417	0.977000	0.42913	0.393000	0.30537	4.224000	0.58593	0.446000	0.26666	0.533000	0.62120	AAG		0.557	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			73	267	0	0	0	1	0	73	267				
KCNC2	3747	broad.mit.edu	37	12	75444616	75444616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444616G>T	ENST00000549446.1	-	3	1849	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D	KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	390					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AACTCCTAGAGCCAGGAAAAT	0.438																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1168-1170)gCt>gAt		potassium voltage-gated channel, Shaw-related subfamily, member 2							56.0	56.0	56.0					12																	75444616		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444616G>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1169C>A	12.37:g.75444616G>T	ENSP00000449253:p.Ala390Asp					KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D	p.A390D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			3	1849	-			390					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1169C>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480886	0.84747	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99214	0.9727	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.958	D;D;D;D;P	0.87578	0.994;0.998;0.979;0.996;0.759	D	0.99308	1.0903	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	390;390;390;390;390	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	D	390	ENSP00000448301:A390D;ENSP00000449941:A390D;ENSP00000449253:A390D;ENSP00000340121:A390D;ENSP00000298972:A390D;ENSP00000319877:A390D;ENSP00000438423:A390D;ENSP00000376966:A390D	ENSP00000298972:A390D	A	-	2	0	KCNC2	73730883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	GCT		0.438	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		53	207	1	0	3.4597e-24	1	3.94879e-24	53	207				
MYH15	22989	broad.mit.edu	37	3	108214691	108214691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214691G>A	ENST00000273353.3	-	8	763	c.707C>T	c.(706-708)gCg>gTg	p.A236V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	236	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATAGTATTCGCTTGCATGAT	0.383																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(706-708)gCg>gTg		myosin, heavy chain 15							115.0	102.0	106.0					3																	108214691		1861	4095	5956	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108214691G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.707C>T	3.37:g.108214691G>A	ENSP00000273353:p.Ala236Val						p.A236V	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			8	763	-			236			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.707C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093275	0.20471	.	.	ENSG00000144821	ENST00000273353	T	0.73047	-0.71	4.84	-1.61	0.08399	Myosin head, motor domain (2);	.	.	.	.	T	0.66557	0.2801	M	0.74881	2.28	0.28598	N	0.909315	B	0.27192	0.171	B	0.24541	0.054	T	0.60747	-0.7202	9	0.52906	T	0.07	.	10.1362	0.42708	0.4652:0.0:0.5348:0.0	.	236	Q9Y2K3	MYH15_HUMAN	V	236	ENSP00000273353:A236V	ENSP00000273353:A236V	A	-	2	0	MYH15	109697381	0.649000	0.27322	0.002000	0.10522	0.060000	0.15804	2.968000	0.49224	-0.219000	0.10003	-1.099000	0.02127	GCG		0.383	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		24	70	0	0	0	1	0	24	70				
MAST3	23031	broad.mit.edu	37	19	18245404	18245404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18245404G>A	ENST00000262811.6	+	15	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCATCACCTCGCTTGGCCACA	0.627																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1498-1500)tcG>tcA		microtubule associated serine/threonine kinase 3							47.0	51.0	49.0					19																	18245404		2164	4279	6443	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18245404G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1500G>A	19.37:g.18245404G>A							p.S500S	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			15	1500	+			500			Protein kinase.		Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.1500G>A	CCDS46014.1																																																																																				0.627	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		23	66	0	0	0	1	0	23	66				
KXD1	79036	broad.mit.edu	37	19	18675741	18675741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18675741G>A	ENST00000602094.1	+	3	1624	c.164G>A	c.(163-165)cGc>cAc	p.R55H	KXD1_ENST00000601630.1_Missense_Mutation_p.R55H|KXD1_ENST00000598830.1_Missense_Mutation_p.R55H|KXD1_ENST00000222307.4_Missense_Mutation_p.R55H|KXD1_ENST00000540691.1_Missense_Mutation_p.R55H|KXD1_ENST00000595073.1_Missense_Mutation_p.R55H|KXD1_ENST00000539106.1_Missense_Mutation_p.R55H|KXD1_ENST00000599319.1_Missense_Mutation_p.R55H|KXD1_ENST00000599000.1_Missense_Mutation_p.R55H			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	55					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)		p.R55H(1)									TCCAGTGCCCGCCTGCAGCAG	0.577																																						ENST00000602094.1																			1	Substitution - Missense(1)	p.R55H(1)	autonomic_ganglia(1)								c.(163-165)cGc>cAc		KxDL motif containing 1							182.0	170.0	174.0					19																	18675741		2203	4300	6503	SO:0001583	missense	79036						protein binding	g.chr19:18675741G>A	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"""chromosome 19 open reading frame 50"""	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.164G>A	19.37:g.18675741G>A	ENSP00000472836:p.Arg55His					KXD1_ENST00000598830.1_Missense_Mutation_p.R55H|KXD1_ENST00000601630.1_Missense_Mutation_p.R55H|KXD1_ENST00000222307.4_Missense_Mutation_p.R55H|KXD1_ENST00000599000.1_Missense_Mutation_p.R55H|KXD1_ENST00000540691.1_Missense_Mutation_p.R55H|KXD1_ENST00000539106.1_Missense_Mutation_p.R55H|KXD1_ENST00000599319.1_Missense_Mutation_p.R55H|KXD1_ENST00000595073.1_Missense_Mutation_p.R55H	p.R55H			Q9BQD3	CS050_HUMAN			3	1624	+			55					O76098	Missense_Mutation	SNP	ENST00000602094.1	37	c.164G>A	CCDS12381.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.460579	0.84317	.	.	ENSG00000105700	ENST00000540691;ENST00000539106;ENST00000222307	T;T;T	0.54675	0.56;0.56;0.56	5.37	4.33	0.51752	Uncharacterised domain KxDL (1);	0.052215	0.85682	N	0.000000	T	0.67970	0.2950	L	0.61036	1.89	0.58432	D	0.999998	D	0.76494	0.999	D	0.72075	0.976	T	0.71090	-0.4693	10	0.72032	D	0.01	-28.9754	13.0235	0.58802	0.0783:0.0:0.9217:0.0	.	55	Q9BQD3	CS050_HUMAN	H	55	ENSP00000443549:R55H;ENSP00000438903:R55H;ENSP00000222307:R55H	ENSP00000222307:R55H	R	+	2	0	C19orf50	18536741	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.513000	0.90542	1.261000	0.44149	0.486000	0.48141	CGC		0.577	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		25	1047	0	0	0	1	0	25	1047				
NOVA1	4857	broad.mit.edu	37	14	26917292	26917292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26917292C>T	ENST00000539517.2	-	5	1714	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D|NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	469	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATTCCTTGTGCCAGGTACGAA	0.443																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1396-1398)gGc>gAc		neuro-oncological ventral antigen 1							164.0	135.0	145.0					14																	26917292		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917292C>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1397G>A	14.37:g.26917292C>T	ENSP00000438875:p.Gly466Asp					NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D|NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D	p.G466D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1714	-			469			KH 3.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1397G>A	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175514	0.57692	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.29397	1.57;1.57;1.57	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.62551	0.2437	M	0.82193	2.58	0.80722	D	1	D;D;D	0.76494	0.999;0.987;0.999	D;D;D	0.87578	0.998;0.988;0.991	T	0.64166	-0.6471	10	0.62326	D	0.03	-22.96	20.3151	0.98650	0.0:1.0:0.0:0.0	.	469;442;466	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	442;466;344	ENSP00000447391:G442D;ENSP00000438875:G466D;ENSP00000267422:G344D	ENSP00000267422:G344D	G	-	2	0	NOVA1	25987132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC		0.443	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		14	177	0	0	0	1	0	14	177				
GPC3	2719	broad.mit.edu	37	X	132833993	132833993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132833993G>T	ENST00000370818.3	-	4	1541	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	GPC3_ENST00000543339.1_Missense_Mutation_p.L312I|GPC3_ENST00000394299.2_Missense_Mutation_p.L389I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	366					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAATAAAGAGATCTTCAGGA	0.333			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(1096-1098)Ctc>Atc		glypican 3							77.0	72.0	74.0					X																	132833993		2203	4296	6499	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132833993G>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1096C>A	X.37:g.132833993G>T	ENSP00000359854:p.Leu366Ile					GPC3_ENST00000543339.1_Missense_Mutation_p.L312I|GPC3_ENST00000394299.2_Missense_Mutation_p.L389I	p.L366I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			4	1541	-	Acute lymphoblastic leukemia(192;0.000127)		366					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.1096C>A	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205259	0.22205	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.50001	0.76;0.76;0.76	5.3	3.51	0.40186	.	0.363857	0.25408	N	0.030900	T	0.32164	0.0820	L	0.36672	1.1	0.27451	N	0.95343	B;P;B;B	0.39862	0.434;0.692;0.409;0.156	B;B;B;B	0.36030	0.216;0.164;0.216;0.216	T	0.10894	-1.0610	10	0.21540	T	0.41	.	8.4759	0.33012	0.2516:0.0:0.7484:0.0	.	350;312;389;366	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	I	366;389;312	ENSP00000359854:L366I;ENSP00000377836:L389I;ENSP00000444222:L312I	ENSP00000359854:L366I	L	-	1	0	GPC3	132661659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.998000	0.49465	1.008000	0.39264	0.436000	0.28706	CTC		0.333	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		75	282	1	0	5.6417e-52	1	7.01162e-52	75	282				
RYR3	6263	broad.mit.edu	37	15	33936603	33936603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33936603C>A	ENST00000389232.4	+	28	3718	c.3648C>A	c.(3646-3648)tgC>tgA	p.C1216*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.C1216*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1216	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.C1216C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATACCATGTGCGGTCTCCAAG	0.522																																						ENST00000389232.4																			1	Substitution - coding silent(1)	p.C1216C(1)	large_intestine(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3646-3648)tgC>tgA		ryanodine receptor 3							76.0	76.0	76.0					15																	33936603		1936	4144	6080	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33936603C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3648C>A	15.37:g.33936603C>A	ENSP00000373884:p.Cys1216*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.C1216*	p.C1216*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	28	3718	+		all_lung(180;7.18e-09)	1216			4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.3648C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	40	8.482325	0.98832	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.13	-9.61	0.00550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0701	0.97718	0.0:0.1782:0.0:0.8218	.	.	.	.	X	1216	.	ENSP00000354735:C1216X	C	+	3	2	RYR3	31723895	0.088000	0.21588	0.406000	0.26421	0.938000	0.57974	-0.638000	0.05452	-1.975000	0.00997	-1.648000	0.00760	TGC		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	96	1	0	0.150653	1	0.150899	4	96				
ARHGAP17	55114	broad.mit.edu	37	16	24942726	24942726	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24942726C>A	ENST00000289968.6	-	19	1964		c.e19-1		ARHGAP17_ENST00000303665.5_Splice_Site|ARHGAP17_ENST00000441763.2_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTTTTAACAGCTGCACAAaaa	0.537																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.e19-1		Rho GTPase activating protein 17							25.0	32.0	30.0					16																	24942726		2171	4282	6453	SO:0001630	splice_region_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942726C>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1895-1G>T	16.37:g.24942726C>A						ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site		NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	1964	-								A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Splice_Site	SNP	ENST00000289968.6	37		CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532339	0.27387	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6581	0.85234	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP17	24850227	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.056000	0.71111	2.518000	0.84900	0.561000	0.74099	.		0.537	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	Intron	106	325	1	0	6.84326e-50	1	8.47065e-50	106	325				
SPATA33	124045	broad.mit.edu	37	16	89735829	89735829	+	Missense_Mutation	SNP	C	C	T	rs151036541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89735829C>T	ENST00000301031.4	+	3	344	c.344C>T	c.(343-345)cCg>cTg	p.P115L	SPATA33_ENST00000579310.1_Missense_Mutation_p.P116L	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	115						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATTCGGGAGCCGGAGGACTGG	0.552																																						ENST00000301031.4																			0											c.(343-345)cCg>cTg		spermatogenesis associated 33		C	LEU/PRO	0,4396		0,0,2198	64.0	71.0	68.0		344	-2.5	0.0	16	dbSNP_134	68	2,8598	3.0+/-9.4	0,2,4298	no	missense	C16orf55	NM_153025.1	98	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	115/140	89735829	2,12994	2198	4300	6498	SO:0001583	missense	124045							g.chr16:89735829C>T	AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"""chromosome 16 open reading frame 55"""	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.344C>T	16.37:g.89735829C>T	ENSP00000301031:p.Pro115Leu					SPATA33_ENST00000579310.1_Missense_Mutation_p.P116L	p.P115L	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1					3	344	+								A8WFL2|B4DZN8	Missense_Mutation	SNP	ENST00000301031.4	37	c.344C>T	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773235	0.16051	0.0	2.33E-4	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.42131	0.98	4.5	-2.49	0.06403	.	1.318630	0.05357	N	0.532915	T	0.20618	0.0496	N	0.14661	0.345	0.09310	N	1	B;B	0.24426	0.009;0.103	B;B	0.16722	0.007;0.016	T	0.09164	-1.0687	10	0.33940	T	0.23	-1.2635	1.0228	0.01521	0.3818:0.2983:0.1761:0.1438	.	116;115	B4DZN8;Q96N06	.;CP055_HUMAN	L	115;116	ENSP00000301031:P115L	ENSP00000301031:P115L	P	+	2	0	C16orf55	88263330	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.170000	0.09897	-0.797000	0.04450	-1.748000	0.00681	CCG		0.552	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		132	430	0	0	0	1	0	132	430				
LIPG	9388	broad.mit.edu	37	18	47110052	47110052	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110052G>T	ENST00000261292.4	+	8	1562	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	LIPG_ENST00000427224.2_Missense_Mutation_p.K354N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	428	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACCTGTGGAAGGAGTTTCGCA	0.587																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1282-1284)aaG>aaT		lipase, endothelial							78.0	69.0	72.0					18																	47110052		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110052G>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1284G>T	18.37:g.47110052G>T	ENSP00000261292:p.Lys428Asn					LIPG_ENST00000427224.2_Missense_Mutation_p.K354N	p.K428N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			8	1562	+			428			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1284G>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	8.238	0.806250	0.16467	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86694	-2.16;-1.68	5.6	-1.66	0.08265	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.531819	0.23813	N	0.044313	T	0.61515	0.2353	N	0.05351	-0.065	0.09310	N	0.999991	B;B	0.17465	0.013;0.022	B;B	0.20955	0.032;0.02	T	0.54576	-0.8273	10	0.02654	T	1	-8.2979	1.0417	0.01560	0.2629:0.1916:0.3436:0.2018	.	354;428	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	N	428;354	ENSP00000261292:K428N;ENSP00000387978:K354N	ENSP00000261292:K428N	K	+	3	2	LIPG	45364050	0.273000	0.24181	0.508000	0.27688	0.968000	0.65278	0.040000	0.13905	-0.211000	0.10124	0.561000	0.74099	AAG		0.587	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		54	175	1	0	9.57592e-29	1	1.11608e-28	54	175				
AHNAK	79026	broad.mit.edu	37	11	62303437	62303437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62303437C>T	ENST00000378024.4	-	3	408	c.134G>A	c.(133-135)cGc>cAc	p.R45H	AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H|AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H|RP11-864I4.3_ENST00000544108.1_RNA	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	45	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACCCCAGTGCGGGCCGCAGG	0.682																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(133-135)cGc>cAc		AHNAK nucleoprotein							50.0	48.0	49.0					11																	62303437		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62303437C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.134G>A	11.37:g.62303437C>T	ENSP00000367263:p.Arg45His					AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H|AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H	p.R45H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			3	408	-		Melanoma(852;0.155)	45			PDZ.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.134G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076164	0.55646	.	.	ENSG00000124942	ENST00000530124;ENST00000257247;ENST00000533365;ENST00000378024;ENST00000530285;ENST00000528508;ENST00000531324	T;T;T;T;T;T;T	0.50548	1.51;1.51;1.51;0.74;1.51;1.51;1.51	5.36	5.36	0.76844	PDZ/DHR/GLGF (3);	0.111128	0.36303	U	0.002664	T	0.25082	0.0609	N	0.03608	-0.345	0.25316	N	0.989154	P;P	0.47545	0.887;0.897	B;B	0.42422	0.179;0.387	T	0.10800	-1.0614	10	0.54805	T	0.06	-8.3012	8.3138	0.32088	0.0:0.8318:0.0:0.1682	.	45;45	Q09666;A1A586	AHNK_HUMAN;.	H	45	ENSP00000433789:R45H;ENSP00000257247:R45H;ENSP00000433635:R45H;ENSP00000367263:R45H;ENSP00000433286:R45H;ENSP00000435357:R45H;ENSP00000436845:R45H	ENSP00000257247:R45H	R	-	2	0	AHNAK	62060013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.672000	0.46850	2.512000	0.84698	0.655000	0.94253	CGC		0.682	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		15	303	0	0	0	1	0	15	303				
ABCA9	10350	broad.mit.edu	37	17	66978725	66978725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66978725C>A	ENST00000340001.4	-	37	4909	c.4698G>T	c.(4696-4698)caG>caT	p.Q1566H	ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1566					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1566H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAAGAAAGCCTGTGATAAAG	0.418																																						ENST00000340001.4																			1	Substitution - Missense(1)	p.Q1566H(1)	endometrium(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4696-4698)caG>caT		ATP-binding cassette, sub-family A (ABC1), member 9							139.0	135.0	136.0					17																	66978725		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66978725C>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4698G>T	17.37:g.66978725C>A	ENSP00000342216:p.Gln1566His					ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H|ABCA9_ENST00000370732.2_3'UTR	p.Q1566H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			37	4909	-	Breast(10;1.47e-12)		1566					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4698G>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597965	0.46318	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.84442	-1.85	4.9	2.88	0.33553	.	0.774711	0.10960	N	0.615066	D	0.83110	0.5183	M	0.69248	2.105	0.80722	D	1	B	0.17667	0.023	B	0.23018	0.043	T	0.76564	-0.2913	10	0.52906	T	0.07	.	8.5998	0.33738	0.1522:0.7666:0.0:0.0811	.	1566	Q8IUA7	ABCA9_HUMAN	H	1566;1511	ENSP00000342216:Q1566H	ENSP00000342216:Q1566H	Q	-	3	2	ABCA9	64490320	0.015000	0.18098	0.981000	0.43875	0.996000	0.88848	-0.046000	0.11983	0.569000	0.29329	0.609000	0.83330	CAG		0.418	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		84	404	1	0	5.14759e-42	1	6.26155e-42	84	404				
KCNU1	157855	broad.mit.edu	37	8	36644856	36644856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36644856C>T	ENST00000399881.3	+	2	265	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	76					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCGCTAGGAGCCATGTAAGAA	0.423																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(226-228)agC>agT		potassium channel, subfamily U, member 1							88.0	85.0	86.0					8																	36644856		1927	4117	6044	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36644856C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.228C>T	8.37:g.36644856C>T							p.S76S	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	2	265	+			76						Silent	SNP	ENST00000399881.3	37	c.228C>T	CCDS55220.1																																																																																				0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	83	0	0	0	1	0	4	83				
ANKS1A	23294	broad.mit.edu	37	6	34985670	34985670	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34985670C>A	ENST00000360359.3	+	11	1982	c.1844C>A	c.(1843-1845)gCt>gAt	p.A615D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	615					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACCCAAAGCTGAACTCAAA	0.582																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1843-1845)gCt>gAt		ankyrin repeat and sterile alpha motif domain containing 1A							115.0	134.0	128.0					6																	34985670		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985670C>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1844C>A	6.37:g.34985670C>A	ENSP00000353518:p.Ala615Asp					ANKS1A_ENST00000535627.1_Intron	p.A615D	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	1982	+			615					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1844C>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800076	0.50208	.	.	ENSG00000064999	ENST00000360359	T	0.39997	1.05	5.41	4.54	0.55810	.	0.000000	0.48767	D	0.000161	T	0.45657	0.1353	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.51356	-0.8716	10	0.72032	D	0.01	-10.4424	12.7754	0.57443	0.0:0.9237:0.0:0.0763	.	615	Q92625	ANS1A_HUMAN	D	615	ENSP00000353518:A615D	ENSP00000353518:A615D	A	+	2	0	ANKS1A	35093648	0.980000	0.34600	0.999000	0.59377	0.996000	0.88848	2.361000	0.44160	1.416000	0.47057	0.655000	0.94253	GCT		0.582	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		238	964	1	0	3.0435e-71	1	3.86941e-71	238	964				
THSD1	55901	broad.mit.edu	37	13	52952067	52952067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952067C>T	ENST00000258613.4	-	5	2216	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T	THSD1_ENST00000544466.1_Missense_Mutation_p.A301T|THSD1_ENST00000349258.4_Missense_Mutation_p.A627T	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	680					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAGCTGTAGGCAGGGGCCTGC	0.597																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1879-1881)Gcc>Acc		thrombospondin, type I, domain containing 1							24.0	25.0	25.0					13																	52952067		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952067C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2038G>A	13.37:g.52952067C>T	ENSP00000258613:p.Ala680Thr					THSD1_ENST00000544466.1_Missense_Mutation_p.A301T|THSD1_ENST00000258613.4_Missense_Mutation_p.A680T	p.A627T	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2423	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	680					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1879G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	5.369	0.253253	0.10185	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.31247	2.23;1.5;2.42	5.55	-2.05	0.07321	.	0.689879	0.14610	N	0.309077	T	0.18759	0.0450	L	0.40543	1.245	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.14023	0.01;0.006	T	0.14531	-1.0469	10	0.46703	T	0.11	-2.5637	2.9248	0.05780	0.1065:0.3323:0.1151:0.4461	.	627;680	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	T	627;301;680	ENSP00000340650:A627T;ENSP00000438512:A301T;ENSP00000258613:A680T	ENSP00000258613:A680T	A	-	1	0	THSD1	51850068	0.000000	0.05858	0.015000	0.15790	0.078000	0.17371	-0.176000	0.09811	-0.899000	0.03901	-0.267000	0.10333	GCC		0.597	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			48	212	0	0	0	1	0	48	212				
MRC2	9902	broad.mit.edu	37	17	60767314	60767314	+	Silent	SNP	C	C	T	rs568390139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60767314C>T	ENST00000303375.5	+	25	4035	c.3633C>T	c.(3631-3633)gaC>gaT	p.D1211D	MRC2_ENST00000446119.2_Silent_p.D77D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1211	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGGCAGGACGGGGAGCCGC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12766	0.0		0.0	False		,,,				2504	0.0					ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(3631-3633)gaC>gaT		mannose receptor, C type 2							13.0	18.0	16.0					17																	60767314		2192	4285	6477	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60767314C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3633C>T	17.37:g.60767314C>T						MRC2_ENST00000446119.2_Silent_p.D77D	p.D1211D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			25	4035	+			1211			C-type lectin 7.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.3633C>T	CCDS11634.1																																																																																				0.682	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			32	110	0	0	0	1	0	32	110				
DHX15	1665	broad.mit.edu	37	4	24538792	24538792	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24538792T>C	ENST00000336812.4	-	11	1947	c.1791A>G	c.(1789-1791)ccA>ccG	p.P597P	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	597					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAAAACACTGTGGGACTAAAC	0.507																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1789-1791)ccA>ccG		DEAH (Asp-Glu-Ala-His) box helicase 15							110.0	93.0	99.0					4																	24538792		2203	4300	6503	SO:0001819	synonymous_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24538792T>C	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1791A>G	4.37:g.24538792T>C						DHX15_ENST00000508032.1_5'UTR	p.P597P	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			11	1947	-		Breast(46;0.0503)	597					Q9NQT7	Silent	SNP	ENST00000336812.4	37	c.1791A>G	CCDS33966.1																																																																																				0.507	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		28	103	0	0	0	1	0	28	103				
RYR1	6261	broad.mit.edu	37	19	38993325	38993325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38993325C>T	ENST00000359596.3	+	48	7793	c.7793C>T	c.(7792-7794)gCg>gTg	p.A2598V	RYR1_ENST00000355481.4_Missense_Mutation_p.A2598V|RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2598	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTCACCAAGGCGCAGCGTGAC	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7792-7794)gCg>gTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						69.0	56.0	61.0					19																	38993325		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38993325C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7793C>T	19.37:g.38993325C>T	ENSP00000352608:p.Ala2598Val					RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V|RYR1_ENST00000359596.3_Missense_Mutation_p.A2598V	p.A2598V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		48	7924	+	all_cancers(60;7.91e-06)		2598			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7793C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823087	0.50739	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93307	-3.2;-3.2;-3.2	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000003	D	0.96306	0.8795	M	0.79475	2.455	0.53688	D	0.999971	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	D	0.96802	0.9590	10	0.72032	D	0.01	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	2598;2598	P21817-2;P21817	.;RYR1_HUMAN	V	2598	ENSP00000352608:A2598V;ENSP00000347667:A2598V;ENSP00000354254:A2598V	ENSP00000347667:A2598V	A	+	2	0	RYR1	43685165	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.500000	0.81588	2.265000	0.75225	0.467000	0.42956	GCG		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			43	198	0	0	0	1	0	43	198				
PIPSL	266971	broad.mit.edu	37	10	95720514	95720514	+	RNA	SNP	G	G	A	rs532086749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720514G>A	ENST00000480546.1	-	0	783					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GAAGCCCGCCGCCTGTAGGTT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		19160	0.0		0.0	False		,,,				2504	0.001					ENST00000480546.1																			0																																																			0							g.chr10:95720514G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720514G>A								NR_002319.2						0	783	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.448	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		14	323	0	0	0	1	0	14	323				
ANLN	54443	broad.mit.edu	37	7	36464161	36464161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36464161G>A	ENST00000265748.2	+	16	2832	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I	ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	871	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGCAAGATGTATCCAATGA	0.294																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2611-2613)Gta>Ata		anillin, actin binding protein							59.0	63.0	62.0					7																	36464161		2203	4297	6500	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36464161G>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2611G>A	7.37:g.36464161G>A	ENSP00000265748:p.Val871Ile					ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	p.V871I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			16	2832	+			871			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2611G>A	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.2|27.2|27.2	4.811120|4.811120|4.811120	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000428612|ENST00000446635;ENST00000457743|ENST00000265748;ENST00000396068	.|.|T;T	.|.|0.39997	.|.|1.05;1.05	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.59742|0.59742|0.59742	0.2216|0.2216|0.2216	L|L|L	0.46741|0.46741|0.46741	1.465|1.465|1.465	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P;P;P	.|.|0.89917	.|.|1.0;0.937;0.923;0.937	.|.|D;P;P;P	.|.|0.87578	.|.|0.998;0.705;0.58;0.705	T|T|T	0.54268|0.54268|0.54268	-0.8319|-0.8319|-0.8319	5|5|10	.|.|0.41790	.|.|T	.|.|0.15	-13.8711|-13.8711|-13.8711	18.6005|18.6005|18.6005	0.91247|0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|748;833;834;871	.|.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.|.;.;.;ANLN_HUMAN	Y|I|I	35|224;74|871;834	.|.|ENSP00000265748:V871I;ENSP00000379380:V834I	.|.|ENSP00000265748:V871I	C|M|V	+|+|+	2|3|1	0|0|0	ANLN|ANLN|ANLN	36430686|36430686|36430686	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	6.776000|6.776000|6.776000	0.75023|0.75023|0.75023	2.741000|2.741000|2.741000	0.93983|0.93983|0.93983	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	TGT|ATG|GTA		0.294	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		15	117	0	0	0	1	0	15	117				
CAPRIN2	65981	broad.mit.edu	37	12	30906676	30906676	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30906676C>T	ENST00000395805.2	-	1	569	c.22G>A	c.(22-24)Gca>Aca	p.A8T	CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A8T|RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCAATGATGCTTGAGATACT	0.433											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(22-24)Gca>Aca		caprin family member 2							94.0	96.0	95.0					12																	30906676		2201	4293	6494	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30906676C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.22G>A	12.37:g.30906676C>T	ENSP00000379150:p.Ala8Thr		OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A8T	p.A8T	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			1	772	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		8						Missense_Mutation	SNP	ENST00000395805.2	37	c.22G>A	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682559	0.47991	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.73152	-0.72;2.76;-0.67;2.76	3.57	-0.709	0.11237	.	.	.	.	.	T	0.41673	0.1169	N	0.08118	0	0.09310	N	0.999993	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.17228	-1.0376	8	.	.	.	4.8522	2.7491	0.05275	0.3397:0.342:0.0:0.3183	.	8;8;8;8	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	T	8	ENSP00000298892:A8T;ENSP00000379150:A8T;ENSP00000251071:A8T;ENSP00000391479:A8T	.	A	-	1	0	CAPRIN2	30797943	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.003000	0.12901	-0.274000	0.09232	0.655000	0.94253	GCA		0.433	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		82	694	0	0	0	1	0	82	694				
LMTK2	22853	broad.mit.edu	37	7	97823692	97823692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823692C>T	ENST00000297293.5	+	11	4208	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1305					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCTGCATAGCCTCAGCTCCG	0.632																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3913-3915)agC>agT		lemur tyrosine kinase 2							124.0	117.0	119.0					7																	97823692		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823692C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3915C>T	7.37:g.97823692C>T							p.S1305S	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	4208	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1305					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3915C>T	CCDS5654.1																																																																																				0.632	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		50	457	0	0	0	1	0	50	457				
DGKQ	1609	broad.mit.edu	37	4	956377	956377	+	Missense_Mutation	SNP	C	C	T	rs140567391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:956377C>T	ENST00000273814.3	-	18	2133	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	687	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCCCCAGCGGAGGACTCG	0.652																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2059-2061)cGc>cAc		diacylglycerol kinase, theta 110kDa		C	HIS/ARG	1,4397	2.1+/-5.4	0,1,2198	41.0	40.0	40.0		2060	4.9	1.0	4	dbSNP_134	40	0,8598		0,0,4299	no	missense	DGKQ	NM_001347.2	29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	687/943	956377	1,12995	2199	4299	6498	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956377C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2060G>A	4.37:g.956377C>T	ENSP00000273814:p.Arg687His						p.R687H	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		18	2133	-			687			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2060G>A	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.519485|5.519485	0.96416|0.96416	2.27E-4|2.27E-4	0.0|0.0	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.42131	.|0.98	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Diacylglycerol kinase, catalytic domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62183|0.62183	0.2407|0.2407	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.65105|0.65105	-0.6249|-0.6249	5|10	.|0.66056	.|D	.|0.02	.|.	15.9132|15.9132	0.79488|0.79488	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|687;687	.|E9KL49;P52824	.|.;DGKQ_HUMAN	T|H	621|687	.|ENSP00000273814:R687H	.|ENSP00000273814:R687H	A|R	-|-	1|2	0|0	DGKQ|DGKQ	946377|946377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.367000|7.367000	0.79558|0.79558	2.395000|2.395000	0.81488|0.81488	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.652	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			45	206	0	0	0	1	0	45	206				
RNH1	6050	broad.mit.edu	37	11	494985	494985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:494985C>A	ENST00000534797.1	-	8	2603	c.1196G>T	c.(1195-1197)aGc>aTc	p.S399I	RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000438658.2_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCACGCAGGCTGTGGTTGGC	0.687																																						ENST00000534797.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1195-1197)aGc>aTc		ribonuclease/angiogenin inhibitor 1							25.0	25.0	25.0					11																	494985		2200	4298	6498	SO:0001583	missense	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:494985C>A		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1196G>T	11.37:g.494985C>A	ENSP00000433999:p.Ser399Ile					RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000438658.2_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I	p.S399I			P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	2603	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	399					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	c.1196G>T	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058631	0.55325	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000529768;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	3.87	3.87	0.44632	.	0.317042	0.26539	N	0.023807	D	0.82838	0.5124	M	0.92367	3.3	0.37013	D	0.895833	D	0.89917	1.0	D	0.97110	1.0	D	0.86268	0.1659	10	0.72032	D	0.01	.	7.5396	0.27731	0.0:0.8859:0.0:0.1141	.	399	P13489	RINI_HUMAN	I	399;399;399;399;193;399;399;399;399	ENSP00000433999:S399I;ENSP00000380738:S399I;ENSP00000380739:S399I;ENSP00000380729:S399I;ENSP00000432170:S193I;ENSP00000435594:S399I;ENSP00000416589:S399I;ENSP00000346402:S399I;ENSP00000348515:S399I	ENSP00000346402:S399I	S	-	2	0	RNH1	484985	0.024000	0.19004	0.943000	0.38184	0.432000	0.31715	0.415000	0.21181	2.465000	0.83290	0.655000	0.94253	AGC		0.687	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		7	76	1	0	0.248553	1	0.24873	7	76				
ISM2	145501	broad.mit.edu	37	14	77942335	77942335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942335C>T	ENST00000342219.4	-	7	1375	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	ISM2_ENST00000429906.1_Missense_Mutation_p.S359N|ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.S352N	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	440	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCACAGGGCTGTCCATGGC	0.652																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1054-1056)aGc>aAc		isthmin 2							39.0	40.0	40.0					14																	77942335		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77942335C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1319G>A	14.37:g.77942335C>T	ENSP00000341490:p.Ser440Asn					ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|ISM2_ENST00000342219.4_Missense_Mutation_p.S440N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.S359N	p.S352N			Q6H9L7	ISM2_HUMAN			8	1446	-			440			TSP type-1.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1055G>A	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394399	0.11638	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24538	1.85;1.87;1.86;2.18	4.98	4.09	0.47781	AMOP (3);	0.250260	0.44097	D	0.000485	T	0.18800	0.0451	L	0.28115	0.83	0.18873	N	0.999986	B;B	0.30068	0.225;0.267	B;B	0.28385	0.032;0.089	T	0.12293	-1.0553	10	0.41790	T	0.15	-4.4567	13.3096	0.60371	0.0:0.9229:0.0:0.0771	.	359;440	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	N	440;359;359;352	ENSP00000341490:S440N;ENSP00000416773:S359N;ENSP00000395387:S359N;ENSP00000377289:S352N	ENSP00000341490:S440N	S	-	2	0	ISM2	77012088	0.996000	0.38824	0.001000	0.08648	0.001000	0.01503	3.227000	0.51262	1.098000	0.41479	0.561000	0.74099	AGC		0.652	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		69	254	0	0	0	1	0	69	254				
ELAVL1	1994	broad.mit.edu	37	19	8046064	8046064	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8046064C>A	ENST00000407627.2	-	3	308	c.179G>T	c.(178-180)aGc>aTc	p.S60I	ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60I	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	60	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAGCCCAAGCTGTGTCCTGT	0.527																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(178-180)aGc>aTc		ELAV like RNA binding protein 1							164.0	118.0	133.0					19																	8046064		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8046064C>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.179G>T	19.37:g.8046064C>A	ENSP00000385269:p.Ser60Ile					ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60I	p.S60I	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			3	308	-			60			RRM 1.		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.179G>T	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287602	0.95517	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.79247	-1.25;-1.25	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	H	0.96301	3.8	0.80722	D	1	D	0.61697	0.99	P	0.61477	0.889	D	0.93571	0.6904	10	0.87932	D	0	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	60	Q15717	ELAV1_HUMAN	I	60;87	ENSP00000385269:S60I;ENSP00000264073:S87I	ENSP00000264073:S87I	S	-	2	0	ELAVL1	7952064	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.225000	0.78051	2.719000	0.93026	0.655000	0.94253	AGC		0.527	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		63	252	1	0	5.85407e-19	1	6.51309e-19	63	252				
FNDC1	84624	broad.mit.edu	37	6	159647514	159647514	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159647514C>T	ENST00000297267.9	+	9	1282	c.1082C>T	c.(1081-1083)aCa>aTa	p.T361I	FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	361					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)		GCCCCTACCACAGCTCCTGAA	0.438																																						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.(1081-1083)aCa>aTa		fibronectin type III domain containing 1							87.0	79.0	82.0					6																	159647514		1869	4104	5973	SO:0001583	missense	84624					extracellular region		g.chr6:159647514C>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.1082C>T	6.37:g.159647514C>T	ENSP00000297267:p.Thr361Ile					FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I|FNDC1_ENST00000480856.1_3'UTR	p.T361I	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)	9	1282	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	361			Fibronectin type-III 4.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1082C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836532	0.50951	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.54675	0.56;3.96	5.54	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.178634	0.47093	D	0.000256	T	0.36276	0.0961	L	0.46157	1.445	0.30456	N	0.774782	P;P	0.52842	0.956;0.876	P;P	0.51016	0.656;0.637	T	0.43766	-0.9371	10	0.62326	D	0.03	-5.3003	5.4101	0.16344	0.1226:0.5707:0.2298:0.0769	.	361;361	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	I	361	ENSP00000297267:T361I;ENSP00000342460:T361I	ENSP00000297267:T361I	T	+	2	0	FNDC1	159567502	0.988000	0.35896	0.985000	0.45067	0.996000	0.88848	3.207000	0.51106	1.483000	0.48342	0.655000	0.94253	ACA		0.438	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		10	63	0	0	0	1	0	10	63				
EIF4E	1977	broad.mit.edu	37	4	99823032	99823032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99823032C>T	ENST00000450253.2	-	2	1644	c.120G>A	c.(118-120)caG>caA	p.Q40Q	EIF4E_ENST00000505992.1_Silent_p.Q40Q|EIF4E_ENST00000280892.6_Silent_p.Q60Q|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000504432.1_Silent_p.Q68Q	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	40	EIF4EBP1/2/3 binding.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CTTACCTGTTCTGTAGGGGAT	0.423																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(118-120)caG>caA		eukaryotic translation initiation factor 4E							138.0	133.0	135.0					4																	99823032		2203	4300	6503	SO:0001819	synonymous_variant	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99823032C>T	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.120G>A	4.37:g.99823032C>T						EIF4E_ENST00000505992.1_Silent_p.Q40Q|EIF4E_ENST00000504432.1_Silent_p.Q68Q|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000280892.6_Silent_p.Q60Q	p.Q40Q	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	2	1644	-			40			EIF4EBP1/2/3 binding.		B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	37	c.120G>A	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	C	7.668	0.686326	0.14973	.	.	ENSG00000151247	ENST00000511644	.	.	.	5.85	4.15	0.48705	.	.	.	.	.	T	0.59756	0.2217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56044	-0.8044	4	.	.	.	-15.0647	9.6323	0.39787	0.0:0.7397:0.0:0.2603	.	.	.	.	K	37	.	.	E	-	1	0	EIF4E	100042055	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	0.518000	0.22847	0.948000	0.37687	0.643000	0.83706	GAA		0.423	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		11	676	0	0	0	1	0	11	676				
SCNN1D	6339	broad.mit.edu	37	1	1226291	1226291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1226291C>T	ENST00000338555.2	+	13	2586	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M|SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	481					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	ACTCTGGCCACGCTAGGTGAA	0.672																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(1441-1443)aCg>aTg		sodium channel, non-voltage-gated 1, delta subunit							30.0	27.0	28.0					1																	1226291		2170	4279	6449	SO:0001583	missense	6339							g.chr1:1226291C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1442C>T	1.37:g.1226291C>T	ENSP00000339504:p.Thr481Met					SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M|SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M	p.T481M						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	13	2586	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1442C>T		.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056654	0.01965	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69306	-0.39;-0.36;-0.37;-0.36	3.0	-1.54	0.08584	.	6.272650	0.00772	U	0.001219	T	0.32556	0.0833	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.28998	0.093;0.023;0.23	B;B;B	0.23018	0.043;0.031;0.005	T	0.26360	-1.0105	10	0.11182	T	0.66	.	2.3034	0.04168	0.2442:0.366:0.0:0.3898	.	303;481;645	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	M	512;645;481;547;481	ENSP00000368411:T645M;ENSP00000339504:T481M;ENSP00000321594:T547M;ENSP00000383717:T481M	ENSP00000321594:T547M	T	+	2	0	SCNN1D	1216154	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.041000	0.12084	-0.035000	0.13691	0.306000	0.20318	ACG		0.672	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		14	61	0	0	0	1	0	14	61				
SRRM4	84530	broad.mit.edu	37	12	119592113	119592113	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592113G>T	ENST00000267260.4	+	12	1845	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	486	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCGCGTCGGAGACGTCGGTCC	0.682																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1456-1458)aGa>aTa		serine/arginine repetitive matrix 4							16.0	21.0	19.0					12																	119592113		1855	4092	5947	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592113G>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1457G>T	12.37:g.119592113G>T	ENSP00000267260:p.Arg486Ile						p.R486I	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1845	+			486			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1457G>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986015	0.97173	.	.	ENSG00000139767	ENST00000267260	T	0.66995	-0.24	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78163	-0.2311	9	.	.	.	-21.8605	19.2685	0.93998	0.0:0.0:1.0:0.0	.	486	A7MD48	SRRM4_HUMAN	I	486	ENSP00000267260:R486I	.	R	+	2	0	SRRM4	118076496	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	7.268000	0.78473	2.562000	0.86427	0.655000	0.94253	AGA		0.682	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		6	117	1	0	0.00198382	1	0.00200138	6	117				
TTC21A	199223	broad.mit.edu	37	3	39170682	39170682	+	Silent	SNP	G	G	A	rs367720570	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39170682G>A	ENST00000431162.2	+	15	2171	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	TTC21A_ENST00000301819.6_Silent_p.A680A|TTC21A_ENST00000440121.1_Silent_p.A631A			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	679										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGACGTGGCGCTGAACATGC	0.547													g|||	2	0.000399361	0.0015	0.0	5008	,	,		22893	0.0		0.0	False		,,,				2504	0.0					ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(2038-2040)gcG>gcA		tetratricopeptide repeat domain 21A		A	,	6,4324		0,6,2159	103.0	105.0	105.0		1893,2037	-11.7	0.0	3		105	0,8530		0,0,4265	no	coding-synonymous,coding-synonymous	TTC21A	NM_001105513.2,NM_145755.2	,	0,6,6424	AA,AG,GG		0.0,0.1386,0.0467	,	631/1273,679/1321	39170682	6,12854	2165	4265	6430	SO:0001819	synonymous_variant	199223						binding	g.chr3:39170682G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2037G>A	3.37:g.39170682G>A						TTC21A_ENST00000440121.1_Silent_p.A631A|TTC21A_ENST00000431162.2_Silent_p.A679A	p.A680A	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	15	2217	+			679					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	c.2040G>A	CCDS46800.1																																																																																				0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		64	317	0	0	0	1	0	64	317				
EP400	57634	broad.mit.edu	37	12	132502101	132502101	+	Silent	SNP	C	C	T	rs540244111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132502101C>T	ENST00000333577.4	+	21	4162	c.4053C>T	c.(4051-4053)agC>agT	p.S1351S	EP400_ENST00000332482.4_Silent_p.S1278S|EP400_ENST00000389561.2_Silent_p.S1315S|EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000330386.6_Silent_p.S1315S			Q96L91	EP400_HUMAN	E1A binding protein p400	1351	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTTGAAGAGCGGGCACTTTG	0.597																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(4051-4053)agC>agT		E1A binding protein p400							89.0	83.0	85.0					12																	132502101		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502101C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4053C>T	12.37:g.132502101C>T						EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000389561.2_Silent_p.S1315S|EP400_ENST00000330386.6_Silent_p.S1315S|EP400_ENST00000332482.4_Silent_p.S1278S	p.S1351S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	21	4162	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1351			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.4053C>T																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		81	413	0	0	0	1	0	81	413				
MACROD2	140733	broad.mit.edu	37	20	16021894	16021894	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16021894G>T	ENST00000310348.4	+	16	1202	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I|MACROD2_ENST00000217246.4_Missense_Mutation_p.S401I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	401					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAAGGCTCCAGTGACCTAGAA	0.448																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(1201-1203)aGt>aTt		MACRO domain containing 2							80.0	80.0	80.0					20																	16021894		2203	4299	6502	SO:0001583	missense	140733							g.chr20:16021894G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1202G>T	20.37:g.16021894G>T	ENSP00000309809:p.Ser401Ile					MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I|MACROD2_ENST00000310348.4_Missense_Mutation_p.S401I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I	p.S401I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			16	1597	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	401					A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.1202G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	3.203	-0.163362	0.06502	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.51325	2.03;2.3;0.71;0.71	5.37	2.31	0.28768	.	1.218200	0.05691	N	0.592088	T	0.45034	0.1322	L	0.36672	1.1	0.09310	N	1	B;B;B	0.18461	0.023;0.017;0.028	B;B;B	0.32583	0.148;0.01;0.022	T	0.49041	-0.8980	10	0.87932	D	0	2.7006	8.5224	0.33285	0.1475:0.0:0.7257:0.1268	.	52;401;401	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	I	401;401;166;166;52	ENSP00000217246:S401I;ENSP00000309809:S401I;ENSP00000385290:S166I;ENSP00000367297:S166I	ENSP00000217246:S401I	S	+	2	0	MACROD2	15969894	0.004000	0.15560	0.002000	0.10522	0.081000	0.17604	0.922000	0.28734	0.071000	0.16664	-0.797000	0.03246	AGT		0.448	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		24	105	1	0	3.83957e-06	1	3.94984e-06	24	105				
SLC9B2	133308	broad.mit.edu	37	4	103970160	103970160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103970160C>A	ENST00000394785.3	-	6	1234	c.603G>T	c.(601-603)aaG>aaT	p.K201N	SLC9B2_ENST00000339611.4_Missense_Mutation_p.K201N|SLC9B2_ENST00000503103.1_Missense_Mutation_p.K144N|SLC9B2_ENST00000362026.3_Missense_Mutation_p.K201N|SLC9B2_ENST00000503230.1_Missense_Mutation_p.K144N	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	201					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CACAAACGCCCTTTAACTTCT	0.448																																						ENST00000394785.3																			0											c.(601-603)aaG>aaT		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							97.0	84.0	89.0					4																	103970160		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103970160C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.603G>T	4.37:g.103970160C>A	ENSP00000378265:p.Lys201Asn					SLC9B2_ENST00000339611.4_Missense_Mutation_p.K201N|SLC9B2_ENST00000362026.3_Missense_Mutation_p.K201N|SLC9B2_ENST00000503230.1_Missense_Mutation_p.K144N|SLC9B2_ENST00000503103.1_Missense_Mutation_p.K144N	p.K201N	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			6	1234	-			201					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.603G>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385091	0.42308	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	5.39	0.641	0.17759	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.83223	2.63	0.41958	D	0.990692	D;D;D;D	0.76494	0.998;0.987;0.999;0.997	D;D;D;D	0.73708	0.966;0.955;0.981;0.918	T	0.20438	-1.0275	10	0.27785	T	0.31	-8.6937	11.46	0.50204	0.0:0.5917:0.0:0.4083	.	144;144;201;201	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	N	201;101;201;201;144;144	ENSP00000354574:K201N;ENSP00000421943:K101N;ENSP00000345241:K201N;ENSP00000378265:K201N;ENSP00000425385:K144N;ENSP00000422477:K144N	ENSP00000345241:K201N	K	-	3	2	SLC9B2	104189609	0.999000	0.42202	0.999000	0.59377	0.629000	0.37895	0.605000	0.24179	0.079000	0.16929	0.591000	0.81541	AAG		0.448	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		17	142	1	0	2.35188e-11	1	2.50879e-11	17	142				
TBX3	6926	broad.mit.edu	37	12	115120759	115120759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:115120759G>A	ENST00000257566.3	-	1	636	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	TBX3_ENST00000349155.2_Missense_Mutation_p.P83S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	83					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCGCCTGGGGCCCCAGGGAG	0.657																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(247-249)Ccc>Tcc		T-box 3							25.0	30.0	28.0					12																	115120759		2201	4298	6499	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120759G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.247C>T	12.37:g.115120759G>A	ENSP00000257566:p.Pro83Ser					TBX3_ENST00000257566.3_Missense_Mutation_p.P83S	p.P83S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1210	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		83					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.247C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997824	0.35226	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87103	-2.21;-2.21	5.17	5.17	0.71159	.	0.140152	0.64402	D	0.000004	T	0.77363	0.4119	N	0.12182	0.205	0.41046	D	0.985269	B;B;B	0.25719	0.003;0.132;0.018	B;B;B	0.35278	0.002;0.199;0.014	T	0.71461	-0.4586	10	0.07482	T	0.82	.	14.416	0.67151	0.0:0.0:0.8519:0.1481	.	83;83;83	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	S	83	ENSP00000257567:P83S;ENSP00000257566:P83S	ENSP00000257566:P83S	P	-	1	0	TBX3	113605142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.419000	0.82065	0.655000	0.94253	CCC		0.657	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		67	222	0	0	0	1	0	67	222				
OR10C1	442194	broad.mit.edu	37	6	29408552	29408552	+	Missense_Mutation	SNP	G	G	A	rs374582900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408552G>A	ENST00000444197.2	+	1	1470	c.760G>A	c.(760-762)Gca>Aca	p.A254T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTATGGCACCGCACTCTTTAT	0.582																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(760-762)Gca>Aca		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							267.0	300.0	288.0					6																	29408552		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408552G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.760G>A	6.37:g.29408552G>A	ENSP00000419119:p.Ala254Thr					OR11A1_ENST00000377149.1_Intron	p.A254T	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1470	+			254					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.760G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992304	0.54041	.	.	ENSG00000206474	ENST00000444197	T	0.00169	8.63	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001525	T	0.00039	0.0001	N	0.13371	0.34	0.30451	N	0.77526	P	0.35959	0.53	B	0.31495	0.131	T	0.00055	-1.2179	10	0.66056	D	0.02	.	8.8589	0.35245	0.1069:0.0:0.8931:0.0	.	254	Q96KK4	O10C1_HUMAN	T	254	ENSP00000419119:A254T	ENSP00000419119:A254T	A	+	1	0	OR10C1	29516531	0.001000	0.12720	0.187000	0.23214	0.927000	0.56198	0.908000	0.28545	1.795000	0.52594	0.603000	0.83216	GCA		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			69	1638	0	0	0	1	0	69	1638				
HSD3B1	3283	broad.mit.edu	37	1	120056800	120056800	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120056800C>A	ENST00000369413.3	+	4	799	c.654C>A	c.(652-654)ttC>ttA	p.F218L	HSD3B1_ENST00000235547.6_Missense_Mutation_p.F220L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	218					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TTGGAAAGTTCTCCACTGTTA	0.527																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(658-660)ttC>ttA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						88.0	89.0	89.0					1																	120056800		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056800C>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.654C>A	1.37:g.120056800C>A	ENSP00000358421:p.Phe218Leu					HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L|HSD3B1_ENST00000369413.3_Missense_Mutation_p.F218L	p.F220L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	799	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	218					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.660C>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	3.556	-0.090709	0.07053	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87650	-2.28;-2.28;-2.28	3.26	0.122	0.14702	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.380111	0.29205	N	0.012833	T	0.70868	0.3273	M	0.75264	2.295	0.09310	N	1	B;P	0.41673	0.257;0.759	B;B	0.40702	0.216;0.338	T	0.63611	-0.6598	10	0.18710	T	0.47	-16.7946	4.638	0.12534	0.0:0.5732:0.1895:0.2373	.	220;218	Q5TDG2;P14060	.;3BHS1_HUMAN	L	218;220;218	ENSP00000358421:F218L;ENSP00000235547:F220L;ENSP00000432268:F218L	ENSP00000235547:F220L	F	+	3	2	HSD3B1	119858323	0.983000	0.35010	0.009000	0.14445	0.271000	0.26615	0.412000	0.21131	0.170000	0.19704	0.313000	0.20887	TTC		0.527	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		109	376	1	0	4.98428e-49	1	6.16141e-49	109	376				
SMYD2	56950	broad.mit.edu	37	1	214500997	214500997	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214500997A>C	ENST00000366957.5	+	7	657	c.635A>C	c.(634-636)aAt>aCt	p.N212T	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	212	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGTTGCCCCAATGTCATTGTG	0.473											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(634-636)aAt>aCt		SET and MYND domain containing 2							144.0	138.0	140.0					1																	214500997		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214500997A>C	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.635A>C	1.37:g.214500997A>C	ENSP00000355924:p.Asn212Thr		OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2221	SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T|SMYD2_ENST00000491455.1_3'UTR	p.N212T	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	7	657	+			212			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.635A>C	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927365	0.52759	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.90676	-2.71;-2.71	5.84	4.71	0.59529	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.76328	2.33	0.58432	D	0.999998	P;D	0.59357	0.883;0.985	P;P	0.58970	0.718;0.849	D	0.93210	0.6599	10	0.62326	D	0.03	-3.1334	11.9764	0.53094	0.932:0.0:0.068:0.0	.	212;196	Q9NRG4;Q05C86	SMYD2_HUMAN;.	T	212	ENSP00000355924:N212T;ENSP00000388682:N212T	ENSP00000355924:N212T	N	+	2	0	SMYD2	212567620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.838000	0.75359	1.027000	0.39758	0.533000	0.62120	AAT		0.473	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		80	444	0	0	0	1	0	80	444				
GP5	2814	broad.mit.edu	37	3	194118727	194118727	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118727A>G	ENST00000401815.1	-	1	356	c.285T>C	c.(283-285)agT>agC	p.S95S	GP5_ENST00000323007.3_Silent_p.S95S			P40197	GPV_HUMAN	glycoprotein V (platelet)	95					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTATCAGGTCACTGAAGGTGC	0.577																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(283-285)agT>agC		glycoprotein V (platelet)							78.0	83.0	81.0					3																	194118727		2203	4300	6503	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118727A>G	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.285T>C	3.37:g.194118727A>G						GP5_ENST00000323007.3_Silent_p.S95S	p.S95S			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	356	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	95					D1MER9	Silent	SNP	ENST00000401815.1	37	c.285T>C	CCDS3307.1																																																																																				0.577	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		90	513	0	0	0	1	0	90	513				
SH3PXD2A	9644	broad.mit.edu	37	10	105372695	105372695	+	Silent	SNP	G	G	A	rs578149053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105372695G>A	ENST00000369774.4	-	12	1449	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.A258A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A|SH3PXD2A_ENST00000538130.1_Silent_p.A226A			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	391					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAACGCCCACGGCACTGCCAT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		20769	0.0		0.0	False		,,,				2504	0.001					ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1171-1173)gcC>gcT		SH3 and PX domains 2A							53.0	48.0	49.0					10																	105372695		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105372695G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1173C>T	10.37:g.105372695G>A						SH3PXD2A_ENST00000540321.1_Silent_p.A258A|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000538130.1_Silent_p.A226A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A	p.A391A			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	12	1449	-		Colorectal(252;0.0815)|Breast(234;0.131)	391					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.1173C>T		.	.	.	.	.	.	.	.	.	.	G	0.128	-1.116878	0.01799	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.67	-4.99	0.03010	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37888	-0.9686	4	.	.	.	-23.192	1.2954	0.02068	0.3276:0.1575:0.3404:0.1745	.	.	.	.	C	318	.	.	R	-	1	0	SH3PXD2A	105362685	0.015000	0.18098	0.389000	0.26208	0.029000	0.11900	-0.088000	0.11198	-0.711000	0.04995	-2.189000	0.00312	CGT		0.632	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		13	300	0	0	0	1	0	13	300				
L3HYPDH	112849	broad.mit.edu	37	14	59942594	59942594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59942594G>T	ENST00000247194.4	-	4	1045	c.932C>A	c.(931-933)gCt>gAt	p.A311D	L3HYPDH_ENST00000543619.1_5'Flank|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A140D	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	311					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TACCCTCACAGCTTTCCCTGT	0.458																																						ENST00000247194.4																			0											c.(931-933)gCt>gAt		L-3-hydroxyproline dehydratase (trans-)							84.0	83.0	83.0					14																	59942594		2203	4299	6502	SO:0001583	missense	112849							g.chr14:59942594G>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.932C>A	14.37:g.59942594G>T	ENSP00000247194:p.Ala311Asp					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A140D	p.A311D	NM_144581.1	NP_653182.1					4	1045	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.932C>A	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110504	0.94292	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.18502	2.21;2.21;2.21	5.34	5.34	0.76211	.	0.048853	0.85682	D	0.000000	T	0.35998	0.0951	M	0.76574	2.34	0.80722	D	1	D	0.56968	0.978	P	0.52554	0.702	T	0.18999	-1.0319	10	0.66056	D	0.02	.	18.6236	0.91330	0.0:0.0:1.0:0.0	.	311	Q96EM0	PRCM_HUMAN	D	311;140;140	ENSP00000247194:A311D;ENSP00000431608:A140D;ENSP00000423874:A140D	ENSP00000247194:A311D	A	-	2	0	C14orf149	59012347	1.000000	0.71417	0.898000	0.35279	0.958000	0.62258	7.318000	0.79029	2.480000	0.83734	0.460000	0.39030	GCT		0.458	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		86	322	1	0	1.0532e-45	1	1.29204e-45	86	322				
PNPLA7	375775	broad.mit.edu	37	9	140374823	140374823	+	Missense_Mutation	SNP	G	G	A	rs150851825		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140374823G>A	ENST00000277531.4	-	22	2632	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PNPLA7_ENST00000492278.1_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R841C	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	816					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.R816C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGGCCTGGCGCACGCAGCGC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16521	0.0		0.001	False		,,,				2504	0.0					ENST00000406427.1																			1	Substitution - Missense(1)	p.R816C(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2521-2523)Cgc>Tgc		patatin-like phospholipase domain containing 7		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	47.0	50.0		2521,2446	4.9	1.0	9	dbSNP_134	50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	180,180	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	841/1343,816/1318	140374823	2,13002	2203	4299	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140374823G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2446C>T	9.37:g.140374823G>A	ENSP00000277531:p.Arg816Cys					PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R816C	p.R841C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	23	2857	-	all_cancers(76;0.126)		816					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2521C>T	CCDS7045.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.13	3.767715	0.69878	2.27E-4	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.82446	-0.0453	10	0.87932	D	0	-35.0242	13.7651	0.62990	0.0:0.0:0.8462:0.1538	.	224;841;816;82	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	C	422;224;816;841;816;807	ENSP00000360512:R422C;ENSP00000360501:R224C;ENSP00000277531:R816C;ENSP00000384610:R841C;ENSP00000400582:R807C	ENSP00000277531:R816C	R	-	1	0	PNPLA7	139494644	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	5.202000	0.65169	2.280000	0.76307	0.313000	0.20887	CGC		0.687	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		41	253	0	0	0	1	0	41	253				
C19orf26	255057	broad.mit.edu	37	19	1235045	1235045	+	Missense_Mutation	SNP	G	G	A	rs534006111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1235045G>A	ENST00000382477.2	-	5	666	c.392C>T	c.(391-393)gCg>gTg	p.A131V	C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V|C19orf26_ENST00000590083.1_Missense_Mutation_p.A137V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	131						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACAGCGCCGCCTCATTGAA	0.697										HNSCC(14;0.022)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		10680	0.0		0.0	False		,,,				2504	0.0					ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(409-411)gCg>gTg		chromosome 19 open reading frame 26							22.0	25.0	24.0					19																	1235045		2194	4295	6489	SO:0001583	missense	255057					integral to membrane		g.chr19:1235045G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.392C>T	19.37:g.1235045G>A	ENSP00000371917:p.Ala131Val	HNSCC(14;0.022)				C19orf26_ENST00000382477.2_Missense_Mutation_p.A131V|C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V	p.A137V			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	702	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	131					O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.410C>T		.	.	.	.	.	.	.	.	.	.	G	18.75	3.691138	0.68271	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.64	3.64	0.41730	.	0.284806	0.32120	N	0.006547	T	0.54240	0.1846	N	0.14661	0.345	0.53005	D	0.999967	D	0.89917	1.0	D	0.69479	0.964	T	0.63019	-0.6730	9	0.72032	D	0.01	.	14.4186	0.67168	0.0:0.0:1.0:0.0	.	131	Q8N350-2	.	V	131	.	ENSP00000215376:A131V	A	-	2	0	C19orf26	1186045	1.000000	0.71417	0.975000	0.42487	0.171000	0.22731	8.771000	0.91751	2.026000	0.59711	0.561000	0.74099	GCG		0.697	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		18	148	0	0	0	1	0	18	148				
NBAS	51594	broad.mit.edu	37	2	15330414	15330414	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15330414A>C	ENST00000281513.5	-	49	6571	c.6546T>G	c.(6544-6546)gcT>gcG	p.A2182A	NBAS_ENST00000441750.1_Silent_p.A2062A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2182					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGGTGGCCAAGCTTGCAAAA	0.378																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6544-6546)gcT>gcG		neuroblastoma amplified sequence							115.0	115.0	115.0					2																	15330414		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15330414A>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6546T>G	2.37:g.15330414A>C						NBAS_ENST00000441750.1_Silent_p.A2062A	p.A2182A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			49	6571	-			2182					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.6546T>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	6.795	0.515612	0.12944	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.32645	0.0836	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.46247	-0.9205	4	.	.	.	.	2.0951	0.03666	0.1547:0.3135:0.2992:0.2326	.	.	.	.	R	1230	.	.	L	-	2	0	NBAS	15247865	0.004000	0.15560	0.132000	0.22025	0.631000	0.37964	-1.528000	0.02225	-3.487000	0.00154	0.528000	0.53228	CTT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		46	273	0	0	0	1	0	46	273				
NGLY1	55768	broad.mit.edu	37	3	25761000	25761000	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25761000T>C	ENST00000280700.5	-	12	2076	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.D621G|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	639	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTCTTCATGGTCATTTAAGCT	0.373																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1861-1863)gAc>gGc		N-glycanase 1							100.0	104.0	103.0					3																	25761000		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25761000T>C	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1916A>G	3.37:g.25761000T>C	ENSP00000280700:p.Asp639Gly					NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.D639G|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000422724.2_3'UTR	p.D621G	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			12	1969	-			639			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1862A>G	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107473	0.37145	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.71	5.71	0.89125	Peptide N glycanase, PAW domain (1);Galactose-binding domain-like (1);	0.132657	0.64402	D	0.000003	T	0.20577	0.0495	L	0.41415	1.275	0.80722	D	1	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.13407	0.007;0.009;0.006	T	0.05699	-1.0869	10	0.38643	T	0.18	-19.0564	8.5722	0.33576	0.0:0.1139:0.0:0.8861	.	597;621;639	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	G	621;639;618;597	ENSP00000387430:D621G;ENSP00000280700:D639G;ENSP00000307980:D618G;ENSP00000389888:D597G	ENSP00000280700:D639G	D	-	2	0	NGLY1	25736004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.055000	0.64282	2.188000	0.69820	0.454000	0.30748	GAC		0.373	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			63	255	0	0	0	1	0	63	255				
SIN3B	23309	broad.mit.edu	37	19	16987345	16987345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16987345C>T	ENST00000248054.5	+	16	2836	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	SIN3B_ENST00000595541.1_Silent_p.L529L|SIN3B_ENST00000379803.1_Silent_p.L971L					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATCGAGCTCCTGGACACCGA	0.667																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2911-2913)Ctg>Ttg		SIN3 transcription regulator family member B							71.0	57.0	62.0					19																	16987345		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16987345C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2815C>T	19.37:g.16987345C>T						SIN3B_ENST00000595541.1_Silent_p.L529L|SIN3B_ENST00000248054.5_Silent_p.L939L	p.L971L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			17	2925	+			971						Silent	SNP	ENST00000248054.5	37	c.2911C>T																																																																																					0.667	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		54	209	0	0	0	1	0	54	209				
XRCC6BP1	91419	broad.mit.edu	37	12	58335665	58335665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58335665G>A	ENST00000300145.3	+	1	306	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	61					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GAAGACGCTGGAGACAAGTAG	0.617																																						ENST00000300145.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						c.(181-183)Gag>Aag		XRCC6 binding protein 1							32.0	36.0	35.0					12																	58335665		1939	4144	6083	SO:0001583	missense	91419				double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity	g.chr12:58335665G>A	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.181G>A	12.37:g.58335665G>A	ENSP00000300145:p.Glu61Lys						p.E61K	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN			1	306	+			61					Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	c.181G>A	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138802	0.56936	.	.	ENSG00000166896	ENST00000300145	T	0.41758	0.99	4.84	-0.808	0.10868	Metallopeptidase, catalytic domain (1);	0.745417	0.13537	N	0.380492	T	0.19287	0.0463	N	0.11064	0.09	0.32488	N	0.54066	B	0.16603	0.018	B	0.18871	0.023	T	0.43294	-0.9400	10	0.02654	T	1	.	12.3052	0.54898	0.0685:0.5094:0.4221:0.0	.	61	Q9Y6H3	ATP23_HUMAN	K	61	ENSP00000300145:E61K	ENSP00000300145:E61K	E	+	1	0	XRCC6BP1	56621932	0.998000	0.40836	0.129000	0.21949	0.864000	0.49448	1.468000	0.35332	-0.253000	0.09514	0.655000	0.94253	GAG		0.617	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		30	122	0	0	0	1	0	30	122				
TNC	3371	broad.mit.edu	37	9	117846662	117846662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846662G>A	ENST00000350763.4	-	4	2368	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F	TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F|TNC_ENST00000537320.1_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	653	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TACACGACAAGGTACTCTGTG	0.582																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1957-1959)Ctt>Ttt		tenascin C							153.0	140.0	145.0					9																	117846662		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846662G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1957C>T	9.37:g.117846662G>A	ENSP00000265131:p.Leu653Phe					TNC_ENST00000537320.1_Missense_Mutation_p.L653F|TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F|TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F	p.L653F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			4	2368	-			653			Fibronectin type-III 1.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1957C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180407	0.78677	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057231	0.64402	D	0.000001	T	0.75451	0.3851	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75357	-0.3346	10	0.56958	D	0.05	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	653;653	E9PC84;P24821	.;TENA_HUMAN	F	653	ENSP00000344400:L653F;ENSP00000438152:L653F;ENSP00000344555:L653F;ENSP00000345861:L653F;ENSP00000265131:L653F;ENSP00000339553:L653F;ENSP00000411406:L653F;ENSP00000443478:L653F;ENSP00000442242:L653F	ENSP00000344400:L653F	L	-	1	0	TNC	116886483	1.000000	0.71417	0.989000	0.46669	0.332000	0.28634	5.286000	0.65639	2.810000	0.96702	0.655000	0.94253	CTT		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		54	279	0	0	0	1	0	54	279				
SFXN1	94081	broad.mit.edu	37	5	174919199	174919199	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174919199A>C	ENST00000321442.5	+	2	347	c.93A>C	c.(91-93)gtA>gtC	p.V31V	SFXN1_ENST00000502393.1_Silent_p.V31V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	31					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCACTGTAACTGACCCCA	0.403																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(91-93)gtA>gtC		sideroflexin 1							114.0	100.0	105.0					5																	174919199		2203	4300	6503	SO:0001819	synonymous_variant	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174919199A>C	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.93A>C	5.37:g.174919199A>C						SFXN1_ENST00000502393.1_Silent_p.V31V	p.V31V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	347	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	31					B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	37	c.93A>C	CCDS4394.1																																																																																				0.403	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		66	220	0	0	0	1	0	66	220				
GTF2I	2969	broad.mit.edu	37	7	74114695	74114695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114695C>T	ENST00000324896.4	+	5	881	c.492C>T	c.(490-492)aaC>aaT	p.N164N	GTF2I_ENST00000346152.4_Silent_p.N164N|GTF2I_ENST00000416070.1_Silent_p.N164N|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Silent_p.N164N|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Silent_p.N164N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	164					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCGAGAACTATGATCTTG	0.478																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(490-492)aaC>aaT		general transcription factor IIi							118.0	119.0	119.0					7																	74114695		2203	4300	6503	SO:0001819	synonymous_variant	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114695C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.492C>T	7.37:g.74114695C>T						AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Silent_p.N164N|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Silent_p.N164N|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Silent_p.N164N|GTF2I_ENST00000443166.1_Silent_p.N164N	p.N164N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			5	881	+			164					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Silent	SNP	ENST00000324896.4	37	c.492C>T	CCDS5573.1																																																																																				0.478	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		154	608	0	0	0	1	0	154	608				
IFNAR1	3454	broad.mit.edu	37	21	34727821	34727821	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34727821A>C	ENST00000270139.3	+	11	1792	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T	IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T|IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	547					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	AGCGAAAGTAAAACAAGTGAA	0.373																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.(1639-1641)aAa>aCa		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						94.0	99.0	97.0					21																	34727821		2203	4300	6503	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34727821A>C		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1640A>C	21.37:g.34727821A>C	ENSP00000270139:p.Lys547Thr					IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T|IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T	p.K547T	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN			11	1792	+			547					B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.1640A>C	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612357	0.28712	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.48522	0.81;0.94;1.52	5.3	1.68	0.24146	.	2.586540	0.00929	N	0.002695	T	0.55146	0.1902	M	0.73598	2.24	0.09310	N	1	D	0.56521	0.976	P	0.46685	0.524	T	0.32455	-0.9906	10	0.45353	T	0.12	-8.2839	6.7289	0.23373	0.7204:0.0:0.2796:0.0	.	547	P17181	INAR1_HUMAN	T	478;547;486	ENSP00000395606:K478T;ENSP00000270139:K547T;ENSP00000407406:K486T	ENSP00000270139:K547T	K	+	2	0	IFNAR1	33649691	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	1.024000	0.30077	0.047000	0.15862	0.533000	0.62120	AAA		0.373	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			67	265	0	0	0	1	0	67	265				
NCKIPSD	51517	broad.mit.edu	37	3	48717612	48717612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717612C>T	ENST00000294129.2	-	6	1262	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	NCKIPSD_ENST00000416649.2_Silent_p.R374R|NCKIPSD_ENST00000341520.4_Silent_p.R381R	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	381					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACCTCCAGCCTCTGCTGGT	0.622																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1141-1143)agG>agA		NCK interacting protein with SH3 domain							46.0	41.0	43.0					3																	48717612		2203	4300	6503	SO:0001819	synonymous_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48717612C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1143G>A	3.37:g.48717612C>T						NCKIPSD_ENST00000341520.4_Silent_p.R381R|NCKIPSD_ENST00000416649.2_Silent_p.R374R	p.R381R	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	6	1262	-			381					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	ENST00000294129.2	37	c.1143G>A	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	8.256	0.810200	0.16537	.	.	ENSG00000213672	ENST00000415281	.	.	.	4.88	-1.47	0.08772	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44143	-0.9347	4	.	.	.	.	7.2578	0.26187	0.0:0.3798:0.117:0.5032	.	.	.	.	T	117	.	.	A	-	1	0	NCKIPSD	48692616	0.171000	0.23029	0.997000	0.53966	0.907000	0.53573	-0.391000	0.07323	-0.118000	0.11851	-0.244000	0.11960	GCT		0.622	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		49	166	0	0	0	1	0	49	166				
OSMR	9180	broad.mit.edu	37	5	38933354	38933354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38933354T>G	ENST00000274276.3	+	18	3150	c.2748T>G	c.(2746-2748)aaT>aaG	p.N916K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	916					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAAGTTTGAATTATGTGTCCC	0.443																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2746-2748)aaT>aaG		oncostatin M receptor							78.0	84.0	82.0					5																	38933354		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38933354T>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2748T>G	5.37:g.38933354T>G	ENSP00000274276:p.Asn916Lys						p.N916K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			18	3150	+	all_lung(31;0.000365)		916					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2748T>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	7.063	0.566823	0.13560	.	.	ENSG00000145623	ENST00000274276	T	0.45668	0.89	5.85	4.69	0.59074	.	1.853720	0.02208	N	0.062901	T	0.41259	0.1151	L	0.56769	1.78	0.29781	N	0.833977	P	0.42456	0.78	B	0.40636	0.335	T	0.42732	-0.9434	10	0.02654	T	1	.	8.6037	0.33760	0.0:0.0864:0.0:0.9136	.	916	Q99650	OSMR_HUMAN	K	916	ENSP00000274276:N916K	ENSP00000274276:N916K	N	+	3	2	OSMR	38969111	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.483000	0.22292	1.034000	0.39945	0.533000	0.62120	AAT		0.443	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		99	446	0	0	0	1	0	99	446				
CARD9	64170	broad.mit.edu	37	9	139262245	139262245	+	Silent	SNP	G	G	A	rs376357452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139262245G>A	ENST00000371732.5	-	8	1278	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	CARD9_ENST00000371734.3_Silent_p.H371H|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	371					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGCCCCGGGCGTGCTGTGCGT	0.706																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1111-1113)caC>caT		caspase recruitment domain family, member 9		G	,	2,4386	2.1+/-5.4	0,2,2192	30.0	27.0	28.0		1113,1113	-7.4	0.0	9		28	0,8576		0,0,4288	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6480	AA,AG,GG		0.0,0.0456,0.0154	,	371/537,371/493	139262245	2,12962	2194	4288	6482	SO:0001819	synonymous_variant	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139262245G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1113C>T	9.37:g.139262245G>A						CARD9_ENST00000371734.3_Silent_p.H371H	p.H371H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	8	1278	-		Myeloproliferative disorder(178;0.0511)	371					Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	c.1113C>T	CCDS6997.1																																																																																				0.706	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		37	127	0	0	0	1	0	37	127				
FOXF2	2295	broad.mit.edu	37	6	1390839	1390839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1390839G>A	ENST00000259806.1	+	1	771	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	219					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCGGGGCGTCGCTGCTGCCCC	0.746																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(655-657)tcG>tcA		forkhead box F2							11.0	13.0	12.0					6																	1390839		2167	4250	6417	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390839G>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.657G>A	6.37:g.1390839G>A							p.S219S	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	771	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	219					Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.657G>A	CCDS4472.1																																																																																				0.746	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			27	166	0	0	0	1	0	27	166				
DRP2	1821	broad.mit.edu	37	X	100503249	100503249	+	Missense_Mutation	SNP	G	G	A	rs6621017		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100503249G>A	ENST00000395209.3	+	13	1951	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	DRP2_ENST00000402866.1_Missense_Mutation_p.S475N|DRP2_ENST00000538510.1_Missense_Mutation_p.S475N|DRP2_ENST00000541709.1_Missense_Mutation_p.S397N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	475					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTGGACATGAGCCTCAATTGG	0.488																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1423-1425)aGc>aAc		dystrophin related protein 2							185.0	154.0	164.0					X																	100503249		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100503249G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1424G>A	X.37:g.100503249G>A	ENSP00000378635:p.Ser475Asn					DRP2_ENST00000538510.1_Missense_Mutation_p.S475N|DRP2_ENST00000541709.1_Missense_Mutation_p.S397N|DRP2_ENST00000402866.1_Missense_Mutation_p.S475N	p.S475N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			13	1951	+			475					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1424G>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870939	0.51695	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.17	3.23	0.37069	EF-hand domain, type 1 (1);	0.134549	0.64402	D	0.000001	T	0.49218	0.1544	N	0.14661	0.345	0.31643	N	0.647767	B	0.33413	0.411	B	0.37731	0.257	T	0.61436	-0.7063	10	0.87932	D	0	-8.3967	14.8724	0.70468	0.0:0.5098:0.4902:0.0	rs6621017;rs52814268;rs6621017	475	Q13474	DRP2_HUMAN	N	475;475;397;475	ENSP00000385038:S475N;ENSP00000378635:S475N;ENSP00000444752:S397N;ENSP00000441051:S475N	ENSP00000378635:S475N	S	+	2	0	DRP2	100389905	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.897000	0.56273	0.942000	0.37525	0.513000	0.50165	AGC		0.488	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		192	510	0	0	0	1	0	192	510				
SNPH	9751	broad.mit.edu	37	20	1286372	1286372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1286372C>T	ENST00000381873.3	+	6	1395	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	SNPH_ENST00000381867.1_Missense_Mutation_p.R431W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	387					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACCCCACAGCGGCCTGGTGC	0.657																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1291-1293)Cgg>Tgg		syntaphilin							25.0	26.0	26.0					20																	1286372		2203	4295	6498	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1286372C>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.1159C>T	20.37:g.1286372C>T	ENSP00000371297:p.Arg387Trp					SNPH_ENST00000381873.3_Missense_Mutation_p.R387W	p.R431W			O15079	SNPH_HUMAN			7	1933	+			387					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.1291C>T	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459210	0.43634	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.95	3.96	0.45880	.	1.804140	0.02557	N	0.096337	T	0.20251	0.0487	N	0.14661	0.345	0.18873	N	0.999989	D;P	0.54772	0.968;0.947	B;B	0.40101	0.319;0.319	T	0.18493	-1.0335	9	0.72032	D	0.01	-1.9986	5.3483	0.16022	0.1378:0.6267:0.15:0.0855	.	431;387	O15079-2;O15079	.;SNPH_HUMAN	W	387;431	.	ENSP00000371291:R431W	R	+	1	2	SNPH	1234372	0.000000	0.05858	0.225000	0.23894	0.954000	0.61252	0.420000	0.21263	2.572000	0.86782	0.561000	0.74099	CGG		0.657	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		34	122	0	0	0	1	0	34	122				
PLEC	5339	broad.mit.edu	37	8	144995861	144995861	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995861G>A	ENST00000322810.4	-	32	8708	c.8539C>T	c.(8539-8541)Ctg>Ttg	p.L2847L	PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000398774.2_Silent_p.L2678L|PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000357649.2_Silent_p.L2714L|PLEC_ENST00000436759.2_Silent_p.L2737L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000354958.2_Silent_p.L2688L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2847	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAAACACTCAGCTTCTCATTG	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8539-8541)Ctg>Ttg		plectin							42.0	47.0	45.0					8																	144995861		2172	4265	6437	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995861G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8539C>T	8.37:g.144995861G>A						PLEC_ENST00000357649.2_Silent_p.L2714L|PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000398774.2_Silent_p.L2678L|PLEC_ENST00000354958.2_Silent_p.L2688L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000436759.2_Silent_p.L2737L	p.L2847L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8708	-			2847			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8539C>T	CCDS43772.1																																																																																				0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		68	324	0	0	0	1	0	68	324				
UTRN	7402	broad.mit.edu	37	6	145075930	145075930	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:145075930C>A	ENST00000367545.3	+	56	8430	c.8430C>A	c.(8428-8430)ctC>ctA	p.L2810L	UTRN_ENST00000367526.4_Silent_p.L365L|UTRN_ENST00000480333.1_3'UTR	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2810	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCATTTTCTCTCTAGTAAGT	0.383																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8428-8430)ctC>ctA		utrophin							104.0	103.0	104.0					6																	145075930		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145075930C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8430C>A	6.37:g.145075930C>A						UTRN_ENST00000367526.4_Silent_p.L365L|UTRN_ENST00000480333.1_3'UTR	p.L2810L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	56	8430	+		Ovarian(120;0.218)	2810			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8430C>A	CCDS34547.1																																																																																				0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			64	267	1	0	3.86002e-21	1	4.34116e-21	64	267				
CMYA5	202333	broad.mit.edu	37	5	79029439	79029439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79029439G>T	ENST00000446378.2	+	2	4882	c.4851G>T	c.(4849-4851)gaG>gaT	p.E1617D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1617					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTTGGCAGAGCTGTCTTTGG	0.443																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4849-4851)gaG>gaT		cardiomyopathy associated 5							95.0	96.0	96.0					5																	79029439		1871	4105	5976	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029439G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4851G>T	5.37:g.79029439G>T	ENSP00000394770:p.Glu1617Asp						p.E1617D	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4882	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1617					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.4851G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079586	0.36662	.	.	ENSG00000164309	ENST00000446378	T	0.03860	3.78	5.08	-2.29	0.06805	.	1.025470	0.07765	N	0.950714	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	1	B	0.23650	0.089	B	0.19946	0.027	T	0.47598	-0.9105	10	0.72032	D	0.01	.	0.5008	0.00579	0.2705:0.1329:0.326:0.2706	.	1617	Q8N3K9	CMYA5_HUMAN	D	1617	ENSP00000394770:E1617D	ENSP00000394770:E1617D	E	+	3	2	CMYA5	79065195	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.401000	0.07232	-0.064000	0.13043	-0.140000	0.14226	GAG		0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		109	405	1	0	4.73232e-52	1	5.88258e-52	109	405				
LINC01317	104355287	broad.mit.edu	37	2	33952457	33952457	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33952457C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CACCGCCACCCACCACTCCAG	0.632																																						ENST00000366209.2																			0																																																			0							g.chr2:33952457C>T																													2.37:g.33952457C>T						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.632	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			10	59	0	0	0	1	0	10	59				
SLC4A5	57835	broad.mit.edu	37	2	74482960	74482960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74482960C>T	ENST00000377634.4	-	13	1366	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	SLC4A5_ENST00000423644.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V323M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000394019.2_Missense_Mutation_p.V323M|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGAGGCGCACGAACGCGATG	0.582																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(967-969)Gtg>Atg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							140.0	108.0	119.0					2																	74482960		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74482960C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.967G>A	2.37:g.74482960C>T	ENSP00000366861:p.Val323Met					SLC4A5_ENST00000423644.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V259M|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V323M	p.V323M	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			13	1364	-			323						Missense_Mutation	SNP	ENST00000377634.4	37	c.967G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453625	0.84209	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.06	4.19	0.49359	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.118223	0.56097	D	0.000025	D	0.89715	0.6795	M	0.93375	3.41	0.41103	D	0.985681	D;D;P;D;D	0.89917	0.999;0.993;0.925;0.987;1.0	D;D;P;D;D	0.72075	0.958;0.921;0.784;0.935;0.976	D	0.91362	0.5112	10	0.66056	D	0.02	.	11.2704	0.49136	0.0:0.9113:0.0:0.0887	.	323;323;259;323;323	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	M	323;323;323;259;323;259;323;323;323;323	ENSP00000377587:V323M;ENSP00000251768:V323M;ENSP00000352461:V259M;ENSP00000395804:V323M;ENSP00000351513:V259M;ENSP00000350475:V323M;ENSP00000366859:V323M;ENSP00000366861:V323M;ENSP00000405678:V323M	ENSP00000251768:V323M	V	-	1	0	SLC4A5	74336468	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.896000	0.69822	1.363000	0.46019	0.655000	0.94253	GTG		0.582	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			71	217	0	0	0	1	0	71	217				
MID2	11043	broad.mit.edu	37	X	107084366	107084366	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107084366T>C	ENST00000262843.6	+	2	1019	c.471T>C	c.(469-471)tgT>tgC	p.C157C	MID2_ENST00000443968.2_Silent_p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCATCACCTGTGAGGTCTCCT	0.567																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(469-471)tgT>tgC		midline 2							53.0	46.0	49.0					X																	107084366		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084366T>C		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.471T>C	X.37:g.107084366T>C						MID2_ENST00000443968.2_Silent_p.C157C	p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			2	1019	+			157					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.471T>C	CCDS14532.2																																																																																				0.567	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		43	165	0	0	0	1	0	43	165				
C19orf57	79173	broad.mit.edu	37	19	14000527	14000527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14000527C>A	ENST00000586783.1	-	5	1141	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.R381M|C19orf57_ENST00000454313.1_Missense_Mutation_p.R381M			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	381					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAAGGCCCTCCTGTGGCCTCC	0.667																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1141-1143)aGg>aTg		chromosome 19 open reading frame 57							26.0	24.0	25.0					19																	14000527		2203	4296	6499	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000527C>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1142G>T	19.37:g.14000527C>A	ENSP00000465822:p.Arg381Met					C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.R381M|C19orf57_ENST00000346736.2_Missense_Mutation_p.R381M	p.R381M			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1200	-			381					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1142G>T		.	.	.	.	.	.	.	.	.	.	C	8.876	0.950379	0.18431	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.40476	1.03;1.03	3.06	-2.43	0.06522	.	0.700857	0.12983	N	0.423072	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	P;P	0.42871	0.792;0.564	B;B	0.38020	0.263;0.192	T	0.12400	-1.0549	10	0.46703	T	0.11	-0.0386	1.6074	0.02687	0.3606:0.3463:0.177:0.1161	.	381;381	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	M	381	ENSP00000404382:R381M;ENSP00000254336:R381M	ENSP00000254336:R381M	R	-	2	0	C19orf57	13861527	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.204000	0.17335	-0.321000	0.08627	-0.140000	0.14226	AGG		0.667	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		39	208	1	0	3.33393e-15	1	3.63836e-15	39	208				
NBEA	26960	broad.mit.edu	37	13	36220438	36220438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36220438C>T	ENST00000400445.3	+	50	8194	c.7660C>T	c.(7660-7662)Cag>Tag	p.Q2554*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2554	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GACGCCATCTCAGTTGCTTAT	0.468																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(7660-7662)Cag>Tag		neurobeachin							102.0	99.0	100.0					13																	36220438		2053	4190	6243	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36220438C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7660C>T	13.37:g.36220438C>T	ENSP00000383295:p.Gln2554*					NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*	p.Q2554*			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	50	8194	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2554			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.7660C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	40	8.518044	0.98845	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.9332	0.92574	0.0:1.0:0.0:0.0	.	.	.	.	X	2554;2554;2551;2554;1181;132;347;132	.	ENSP00000308534:Q2554X	Q	+	1	0	NBEA	35118438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.549000	0.85964	0.563000	0.77884	CAG		0.468	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		10	125	0	0	0	1	0	10	125				
RERE	473	broad.mit.edu	37	1	8421825	8421825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8421825G>A	ENST00000337907.3	-	18	2648	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	672					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACCTCACCTGCGTTTTTGTC	0.562																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2014-2016)Cag>Tag		arginine-glutamic acid dipeptide (RE) repeats							91.0	86.0	88.0					1																	8421825		2203	4300	6503	SO:0001587	stop_gained	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8421825G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2014C>T	1.37:g.8421825G>A	ENSP00000338629:p.Gln672*					RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*|RERE_ENST00000400907.2_Intron	p.Q672*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	18	2648	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	672					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	ENST00000337907.3	37	c.2014C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	43	10.035055	0.99321	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-19.8783	18.2489	0.89996	0.0:0.0:1.0:0.0	.	.	.	.	X	672;404;118;672;92	.	ENSP00000338629:Q672X	Q	-	1	0	RERE	8344412	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.951000	0.87819	2.576000	0.86940	0.561000	0.74099	CAG		0.562	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			65	252	0	0	0	1	0	65	252				
TMEM2	23670	broad.mit.edu	37	9	74337391	74337391	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74337391G>T	ENST00000377044.4	-	12	2758	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	740					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCAGCACTAGAGTTGGTTGT	0.378																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(2218-2220)tCt>tAt		transmembrane protein 2							149.0	132.0	138.0					9																	74337391		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74337391G>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2219C>A	9.37:g.74337391G>T	ENSP00000366243:p.Ser740Tyr					TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	p.S740Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	12	2758	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	740					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2219C>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691561	0.68271	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.55413	0.52;0.52	5.38	5.38	0.77491	Pectin lyase fold/virulence factor (1);	0.095821	0.64402	D	0.000001	T	0.43500	0.1250	N	0.14661	0.345	0.80722	D	1	B;B	0.26744	0.158;0.131	B;B	0.31946	0.089;0.138	T	0.44097	-0.9350	10	0.72032	D	0.01	.	19.4993	0.95086	0.0:0.0:1.0:0.0	.	740;677	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Y	740;677	ENSP00000366243:S740Y;ENSP00000366266:S677Y	ENSP00000366243:S740Y	S	-	2	0	TMEM2	73527211	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	9.248000	0.95456	2.687000	0.91594	0.557000	0.71058	TCT		0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		61	268	1	0	3.30712e-30	1	3.87637e-30	61	268				
MXRA5	25878	broad.mit.edu	37	X	3248806	3248806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3248806C>T	ENST00000217939.6	-	3	351	c.197G>A	c.(196-198)aGc>aAc	p.S66N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	66						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCCTGTATGCTATTAAACCT	0.373																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(196-198)aGc>aAc		matrix-remodelling associated 5							66.0	54.0	59.0					X																	3248806		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3248806C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.197G>A	X.37:g.3248806C>T	ENSP00000217939:p.Ser66Asn						p.S66N	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			3	351	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	66					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.197G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619827	0.46736	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02323	4.34	3.81	2.94	0.34122	.	0.000000	0.43747	U	0.000527	T	0.04907	0.0132	N	0.10733	0.035	0.24320	N	0.995049	D	0.76494	0.999	D	0.72338	0.977	T	0.33979	-0.9847	10	0.87932	D	0	.	11.0229	0.47728	0.0:0.9039:0.0:0.0961	.	66	Q9NR99	MXRA5_HUMAN	N	66	ENSP00000217939:S66N	ENSP00000217939:S66N	S	-	2	0	MXRA5	3258806	0.994000	0.37717	0.034000	0.17996	0.737000	0.42083	2.643000	0.46604	0.589000	0.29677	0.509000	0.49947	AGC		0.373	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		28	100	0	0	0	1	0	28	100				
ARRDC5	645432	broad.mit.edu	37	19	4896825	4896825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896825G>A	ENST00000381781.2	-	2	358	c.359C>T	c.(358-360)cCt>cTt	p.P120L		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	120										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGGTAGAAGGAAGCCTGGG	0.448																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(358-360)cCt>cTt		arrestin domain containing 5							158.0	153.0	155.0					19																	4896825		1935	4142	6077	SO:0001583	missense	645432				signal transduction			g.chr19:4896825G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.359C>T	19.37:g.4896825G>A	ENSP00000371200:p.Pro120Leu						p.P120L	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	2	358	-			120						Missense_Mutation	SNP	ENST00000381781.2	37	c.359C>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174604	0.38413	.	.	ENSG00000205784	ENST00000381781	T	0.32753	1.44	4.37	4.37	0.52481	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.40469	N	0.001088	T	0.56949	0.2020	M	0.80508	2.5	0.46749	D	0.999188	D	0.89917	1.0	D	0.91635	0.999	T	0.62534	-0.6834	10	0.66056	D	0.02	-14.491	14.3371	0.66598	0.0:0.0:1.0:0.0	.	120	A6NEK1	ARRD5_HUMAN	L	120	ENSP00000371200:P120L	ENSP00000371200:P120L	P	-	2	0	ARRDC5	4847825	0.989000	0.36119	0.790000	0.31976	0.387000	0.30353	3.190000	0.50973	2.453000	0.82957	0.579000	0.79373	CCT		0.448	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		16	431	0	0	0	1	0	16	431				
SBF2	81846	broad.mit.edu	37	11	9874236	9874236	+	Missense_Mutation	SNP	G	G	A	rs143887793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9874236G>A	ENST00000256190.8	-	21	2734	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	866					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGAATAGGCGGAAGTCTTCT	0.418																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2596-2598)cCg>cTg		SET binding factor 2		G	LEU/PRO	0,4402		0,0,2201	198.0	169.0	179.0		2597	5.1	1.0	11	dbSNP_134	179	1,8587	1.2+/-3.3	0,1,4293	no	missense	SBF2	NM_030962.3	98	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	866/1850	9874236	1,12989	2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9874236G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2597C>T	11.37:g.9874236G>A	ENSP00000256190:p.Pro866Leu					RP11-1H15.2_ENST00000533659.1_RNA	p.P866L	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	21	2734	-			866					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2597C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604129	0.87157	0.0	1.16E-4	ENSG00000133812	ENST00000256190	D	0.89552	-2.53	6.03	5.12	0.69794	.	0.046259	0.85682	D	0.000000	D	0.92996	0.7771	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93548	0.6884	10	0.66056	D	0.02	.	15.3416	0.74303	0.0665:0.0:0.9335:0.0	.	866	Q86WG5	MTMRD_HUMAN	L	866	ENSP00000256190:P866L	ENSP00000256190:P866L	P	-	2	0	SBF2	9830812	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	1.569000	0.49696	0.655000	0.94253	CCG		0.418	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		123	511	0	0	0	1	0	123	511				
ASIC1	41	broad.mit.edu	37	12	50475404	50475404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50475404G>A	ENST00000447966.2	+	12	1788	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	ASIC1_ENST00000228468.4_Missense_Mutation_p.R566Q|ASIC1_ENST00000552438.1_Missense_Mutation_p.R554Q	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	520					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CATCCGGCCCGAGGCACGTTC	0.667																																						ENST00000228468.4																			0											c.(1696-1698)cGa>cAa		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						62.0	50.0	54.0					12																	50475404		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50475404G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1559G>A	12.37:g.50475404G>A	ENSP00000400228:p.Arg520Gln					ASIC1_ENST00000552438.1_Missense_Mutation_p.R554Q|ASIC1_ENST00000447966.2_Missense_Mutation_p.R520Q	p.R566Q	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			12	2082	+			520					A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.1697G>A	CCDS44876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.318406|2.318406	0.40996|0.40996	.|.	.|.	ENSG00000110881|ENSG00000110881	ENST00000453327|ENST00000228468;ENST00000447966;ENST00000552438	.|T;T;T	.|0.61980	.|0.29;0.07;0.06	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	.|0.235549	.|0.27109	.|N	.|0.020897	T|T	0.38983|0.38983	0.1061|0.1061	N|N	0.02315|0.02315	-0.6|-0.6	0.44024|0.44024	D|D	0.996741|0.996741	.|B;B	.|0.19583	.|0.024;0.037	.|B;B	.|0.23018	.|0.003;0.043	T|T	0.25676|0.25676	-1.0125|-1.0125	5|10	.|0.25106	.|T	.|0.35	-3.9443|-3.9443	17.5798|17.5798	0.87963|0.87963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|520;566	.|P78348;P78348-1	.|ACCN2_HUMAN;.	K|Q	388|566;520;554	.|ENSP00000228468:R566Q;ENSP00000400228:R520Q;ENSP00000450247:R554Q	.|ENSP00000228468:R566Q	E|R	+|+	1|2	0|0	ACCN2|ACCN2	48761671|48761671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.381000|5.381000	0.66208|0.66208	2.238000|2.238000	0.73509|0.73509	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.667	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		40	155	0	0	0	1	0	40	155				
SDHA	6389	broad.mit.edu	37	5	251561	251561	+	Missense_Mutation	SNP	C	C	T	rs367621815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:251561C>T	ENST00000264932.6	+	13	1887	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.A543V|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	591				A -> T (in Ref. 3; AAD51006). {ECO:0000305}.	cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCACGGGGCGCGCATGCCAGG	0.627									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1771-1773)gCg>gTg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)	T	VAL/ALA	0,4406		0,0,2203	47.0	53.0	51.0		1772	3.8	0.0	5		51	1,8599		0,1,4299	no	missense	SDHA	NM_004168.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	591/665	251561	1,13005	2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:251561C>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1772C>T	5.37:g.251561C>T	ENSP00000264932:p.Ala591Val					SDHA_ENST00000510361.1_Missense_Mutation_p.A543V|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Intron	p.A591V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		13	1887	+			591	A -> T (in Ref. 3; AAD51006).				A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1772C>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	12.84	2.058988	0.36373	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	D;D;D	0.85258	-1.96;-1.96;-1.96	3.79	3.79	0.43588	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.145674	0.45606	U	0.000356	D	0.93301	0.7865	M	0.92691	3.335	0.80722	D	1	D;P;D;P	0.89917	1.0;0.912;0.998;0.825	D;B;P;B	0.71656	0.974;0.321;0.845;0.207	D	0.94746	0.7923	10	0.87932	D	0	.	13.5022	0.61462	0.0:1.0:0.0:0.0	.	543;591;185;591	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	V	591;446;543;37	ENSP00000264932:A591V;ENSP00000427703:A543V;ENSP00000421911:A37V	ENSP00000264932:A591V	A	+	2	0	SDHA	304561	1.000000	0.71417	0.018000	0.16275	0.025000	0.11179	5.353000	0.66034	1.853000	0.53794	0.305000	0.20034	GCG		0.627	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		47	188	0	0	0	1	0	47	188				
SLC9A5	6553	broad.mit.edu	37	16	67292264	67292264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67292264C>T	ENST00000299798.11	+	10	1605	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	514					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCTGCTGATGCGACGATCAGC	0.592																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1540-1542)Cga>Tga		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							60.0	66.0	64.0					16																	67292264		2071	4214	6285	SO:0001587	stop_gained	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67292264C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1540C>T	16.37:g.67292264C>T	ENSP00000299798:p.Arg514*						p.R514*	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	10	1605	+		Ovarian(137;0.0563)	514					A5PKY7|Q9Y626	Nonsense_Mutation	SNP	ENST00000299798.11	37	c.1540C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	c	36	5.912023	0.97099	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	.	.	.	5.24	4.28	0.50868	.	0.105727	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.837	0.57780	0.4038:0.5962:0.0:0.0	.	.	.	.	X	514;2	.	ENSP00000299798:R514X	R	+	1	2	SLC9A5	65849765	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.943000	0.29030	1.445000	0.47624	0.556000	0.70494	CGA		0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			52	223	0	0	0	1	0	52	223				
SH3GLB1	51100	broad.mit.edu	37	1	87185243	87185243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87185243C>T	ENST00000370558.4	+	3	592	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	SH3GLB1_ENST00000535010.1_5'UTR|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	90	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AGCTCCAAGTCGTATAAACAA	0.358																																						ENST00000370558.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11						c.(268-270)Cgt>Tgt		SH3-domain GRB2-like endophilin B1							74.0	77.0	76.0					1																	87185243		2203	4300	6503	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87185243C>T	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.268C>T	1.37:g.87185243C>T	ENSP00000473267:p.Arg90Cys					SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C|SH3GLB1_ENST00000535010.1_5'UTR	p.R90C	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	3	592	+		Lung NSC(277;0.209)	90			BAR.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.268C>T	CCDS710.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165477	0.94768	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.32272	1.46	5.95	5.95	0.96441	BAR (3);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67968	-0.5533	10	0.87932	D	0	-0.4584	20.3748	0.98911	0.0:1.0:0.0:0.0	.	90;90	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	C	90	ENSP00000418744:R90C	ENSP00000212369:R90C	R	+	1	0	SH3GLB1	86957831	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT		0.358	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		17	294	0	0	0	1	0	17	294				
DDX5	1655	broad.mit.edu	37	17	62499117	62499117	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62499117C>A	ENST00000225792.5	-	8	1311	c.910G>T	c.(910-912)Gca>Tca	p.A304S	DDX5_ENST00000450599.2_Missense_Mutation_p.A225S|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.A304S|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	304					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGTTCAAGTGCACCAATGTTT	0.373			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(910-912)Gca>Tca		DEAD (Asp-Glu-Ala-Asp) box helicase 5							132.0	128.0	129.0					17																	62499117		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62499117C>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.910G>T	17.37:g.62499117C>A	ENSP00000225792:p.Ala304Ser					DDX5_ENST00000578804.1_Missense_Mutation_p.A304S|DDX5_ENST00000450599.2_Missense_Mutation_p.A225S	p.A304S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		8	1311	-	Breast(5;2.15e-14)		304					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.910G>T	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178353	0.57692	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.91	5.91	0.95273	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.01874	-0.695	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.002;0.002;0.002	T	0.41592	-0.9500	9	0.02654	T	1	-10.9695	20.2985	0.98592	0.0:1.0:0.0:0.0	.	225;304;293;304	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	S	304;234;293	.	ENSP00000225792:A293S	A	-	1	0	DDX5	59929579	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.300000	0.78841	2.793000	0.96121	0.655000	0.94253	GCA		0.373	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		121	489	1	0	1.24258e-46	1	1.52757e-46	121	489				
DOCK4	9732	broad.mit.edu	37	7	111386404	111386404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111386404G>A	ENST00000437633.1	-	43	4892	c.4636C>T	c.(4636-4638)Ctg>Ttg	p.L1546L	DOCK4_ENST00000494651.2_Silent_p.L429L|DOCK4_ENST00000428084.1_Silent_p.L1555L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1546	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAAGCATCAGCTCTCTTAAT	0.448																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4663-4665)Ctg>Ttg		dedicator of cytokinesis 4							99.0	97.0	98.0					7																	111386404		1909	4136	6045	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111386404G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4636C>T	7.37:g.111386404G>A						DOCK4_ENST00000437633.1_Silent_p.L1546L|DOCK4_ENST00000494651.2_Silent_p.L429L	p.L1555L			Q8N1I0	DOCK4_HUMAN			44	4935	-		Acute lymphoblastic leukemia(1;0.0441)	1546			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.4663C>T	CCDS47688.1																																																																																				0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	64	0	0	0	1	0	13	64				
NOTCH3	4854	broad.mit.edu	37	19	15271773	15271773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15271773C>T	ENST00000263388.2	-	33	6741	c.6666G>A	c.(6664-6666)ccG>ccA	p.P2222P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2222					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCAGCCGCCGGGTACTCCT	0.711																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6664-6666)ccG>ccA		notch 3							5.0	7.0	6.0					19																	15271773		2078	4125	6203	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271773C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6666G>A	19.37:g.15271773C>T							p.P2222P	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6741	-			2222					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.6666G>A	CCDS12326.1																																																																																				0.711	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	53	0	0	0	1	0	12	53				
RBPJL	11317	broad.mit.edu	37	20	43944880	43944880	+	Silent	SNP	C	C	T	rs536195781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43944880C>T	ENST00000343694.3	+	10	1146	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	RBPJL_ENST00000372741.3_Silent_p.C358C|RBPJL_ENST00000372743.1_Silent_p.C358C|RBPJL_ENST00000464504.1_Intron	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	358					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ACAGCTCTTGCTGGACCATCA	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18668	0.0		0.0	False		,,,				2504	0.0					ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1072-1074)tgC>tgT		recombination signal binding protein for immunoglobulin kappa J region-like							95.0	88.0	90.0					20																	43944880		2203	4300	6503	SO:0001819	synonymous_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43944880C>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1074C>T	20.37:g.43944880C>T						RBPJL_ENST00000372743.1_Silent_p.C358C|RBPJL_ENST00000372741.3_Silent_p.C358C|RBPJL_ENST00000464504.1_Intron	p.C358C	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			10	1146	+		Myeloproliferative disorder(115;0.0122)	358					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	ENST00000343694.3	37	c.1074C>T	CCDS13349.1																																																																																				0.627	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		49	357	0	0	0	1	0	49	357				
ELMSAN1	91748	broad.mit.edu	37	14	74205659	74205659	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74205659C>A	ENST00000286523.5	-	2	1835	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Missense_Mutation_p.K351N	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	351	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGATACCCTCCTTAGAGAGGC	0.682																																						ENST00000286523.5																			0											c.(1051-1053)aaG>aaT		ELM2 and Myb/SANT-like domain containing 1							19.0	22.0	21.0					14																	74205659		2174	4262	6436	SO:0001583	missense	91748							g.chr14:74205659C>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1053G>T	14.37:g.74205659C>A	ENSP00000286523:p.Lys351Asn					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.K351N	p.K351N	NM_194278.3	NP_919254.2					2	1835	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1053G>T	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314060	0.60414	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.69	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.29028	0.0721	L	0.29908	0.895	0.46609	D	0.999121	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.987	T	0.02424	-1.1161	10	0.56958	D	0.05	-25.9239	7.0046	0.24830	0.0:0.7386:0.0:0.2614	.	351;351	A0PJD3;Q6PJG2	.;CN043_HUMAN	N	351	ENSP00000377634:K351N;ENSP00000286523:K351N;ENSP00000407767:K351N;ENSP00000402380:K351N	ENSP00000286523:K351N	K	-	3	2	C14orf43	73275412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.793000	0.26944	2.163000	0.67991	0.491000	0.48974	AAG		0.682	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		49	183	1	0	1.79293e-35	1	2.14121e-35	49	183				
CC2D2B	387707	broad.mit.edu	37	10	97773576	97773576	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97773576C>A	ENST00000344386.3	+	5	514	c.350C>A	c.(349-351)cCt>cAt	p.P117H	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_Intron|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P117H|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	117										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCTTTGATTCCTTTTGTGCCT	0.313																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(349-351)cCt>cAt		coiled-coil and C2 domain containing 2B							124.0	122.0	123.0					10																	97773576		1869	4106	5975	SO:0001583	missense	387707							g.chr10:97773576C>A	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.350C>A	10.37:g.97773576C>A	ENSP00000343747:p.Pro117His					RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P117H|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA	p.P117H	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	5	514	+		Colorectal(252;0.158)	117					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.350C>A	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160470	0.78226	.	.	ENSG00000188649	ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	D;T;T	0.96334	-3.98;-0.56;-0.56	5.89	5.89	0.94794	.	.	.	.	.	D	0.98388	0.9464	M	0.88450	2.955	0.38858	D	0.956423	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99912	1.1207	9	0.87932	D	0	.	17.2314	0.86985	0.0:1.0:0.0:0.0	.	117;117	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	H	178;117;117;117	ENSP00000391834:P178H;ENSP00000386988:P117H;ENSP00000343747:P117H	ENSP00000343747:P117H	P	+	2	0	CC2D2B	97763566	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	5.038000	0.64177	2.817000	0.96982	0.644000	0.83932	CCT		0.313	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		34	170	1	0	3.66082e-28	1	4.25431e-28	34	170				
EXTL3	2137	broad.mit.edu	37	8	28574109	28574109	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574109G>A	ENST00000220562.4	+	3	1435	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGGGCTGCCGGCTACACAAC	0.597																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(532-534)cGg>cAg		exostosin-like glycosyltransferase 3							72.0	76.0	75.0					8																	28574109		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574109G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.533G>A	8.37:g.28574109G>A	ENSP00000220562:p.Arg178Gln					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.R178Q	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1435	+		Ovarian(32;0.069)	178					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.533G>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546182	0.45383	.	.	ENSG00000012232	ENST00000220562	D	0.95788	-3.81	5.02	5.02	0.67125	.	0.054165	0.64402	D	0.000001	D	0.91307	0.7259	L	0.27053	0.805	0.58432	D	0.999997	B	0.19200	0.034	B	0.08055	0.003	D	0.87603	0.2498	9	.	.	.	-24.3996	18.403	0.90523	0.0:0.0:1.0:0.0	.	178	O43909	EXTL3_HUMAN	Q	178	ENSP00000220562:R178Q	.	R	+	2	0	EXTL3	28630028	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.624000	0.98398	2.348000	0.79779	0.485000	0.47835	CGG		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		88	407	0	0	0	1	0	88	407				
RHOBTB3	22836	broad.mit.edu	37	5	95091253	95091253	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95091253A>C	ENST00000379982.3	+	6	1344	c.836A>C	c.(835-837)cAt>cCt	p.H279P	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	279	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGTAAGCCATGTTTTCATG	0.433																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(835-837)cAt>cCt		Rho-related BTB domain containing 3							143.0	129.0	134.0					5																	95091253		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091253A>C	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.836A>C	5.37:g.95091253A>C	ENSP00000369318:p.His279Pro					GLRX_ENST00000508780.1_Intron	p.H279P	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1344	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	279			BTB 1.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.836A>C	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609307	0.46527	.	.	ENSG00000164292	ENST00000379982	T	0.66638	-0.22	6.08	6.08	0.98989	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (1);	0.214991	0.49916	D	0.000126	T	0.48259	0.1490	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41520	-0.9504	10	0.27082	T	0.32	-25.0285	16.3126	0.82898	1.0:0.0:0.0:0.0	.	279	O94955	RHBT3_HUMAN	P	279	ENSP00000369318:H279P	ENSP00000369318:H279P	H	+	2	0	RHOBTB3	95117009	0.996000	0.38824	0.984000	0.44739	0.995000	0.86356	3.624000	0.54231	2.333000	0.79357	0.482000	0.46254	CAT		0.433	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		105	419	0	0	0	1	0	105	419				
PIP5K1B	8395	broad.mit.edu	37	9	71555571	71555571	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555571C>T	ENST00000265382.3	+	14	1672	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	456					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCCCTGGGATCCCGACACAGG	0.433																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1366-1368)tCc>tTc		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							249.0	202.0	218.0					9																	71555571		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71555571C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1367C>T	9.37:g.71555571C>T	ENSP00000265382:p.Ser456Phe					PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	p.S456F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	14	1672	+			456					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1367C>T	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872575	0.51695	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.27890	1.67;1.64	5.78	5.78	0.91487	.	0.172614	0.53938	D	0.000054	T	0.34483	0.0899	L	0.53249	1.67	0.50171	D	0.999853	B	0.30455	0.28	B	0.28916	0.096	T	0.05402	-1.0887	10	0.40728	T	0.16	-0.1659	20.0065	0.97435	0.0:1.0:0.0:0.0	.	456	O14986	PI51B_HUMAN	F	456;456;456;403	ENSP00000438082:S456F;ENSP00000265382:S456F	ENSP00000265382:S456F	S	+	2	0	PIP5K1B	70745391	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.526000	0.67116	2.731000	0.93534	0.655000	0.94253	TCC		0.433	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		133	629	0	0	0	1	0	133	629				
MUC16	94025	broad.mit.edu	37	19	9000566	9000566	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9000566G>A	ENST00000397910.4	-	54	40621	c.40418C>T	c.(40417-40419)aCc>aTc	p.T13473I	MUC16_ENST00000380951.5_Splice_Site_p.T114I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13475					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGCTGGCGGCTATAGTGAA	0.393																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e54-1		mucin 16, cell surface associated							127.0	105.0	112.0					19																	9000566		1905	4125	6030	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000566G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40418-1C>T	19.37:g.9000566G>A						MUC16_ENST00000380951.5_Splice_Site_p.T114_splice	p.T13473_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			54	40621	-			13475					Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.40417_splice	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.513|7.513	0.655018|0.655018	0.14580|0.14580	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32515	.|1.45;1.96	2.84|2.84	1.78|1.78	0.24846|0.24846	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.03608|0.03608	-0.345|-0.345	.|.	.|.	.|.	.|B;D	.|0.60575	.|0.012;0.988	.|B;D	.|0.71656	.|0.001;0.974	T|T	0.28964|0.28964	-1.0027|-1.0027	4|8	.|0.54805	.|T	.|0.06	.|.	5.6625|5.6625	0.17676|0.17676	0.1621:0.0:0.8379:0.0|0.1621:0.0:0.8379:0.0	.|.	.|21118;13473	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	313|13473;114	.|ENSP00000381008:T13473I;ENSP00000370338:T114I	.|ENSP00000370338:T114I	P|T	-|-	1|2	0|0	MUC16|MUC16	8861566|8861566	0.100000|0.100000	0.21855|0.21855	0.019000|0.019000	0.16419|0.16419	0.008000|0.008000	0.06430|0.06430	0.170000|0.170000	0.16663|0.16663	0.535000|0.535000	0.28714|0.28714	0.281000|0.281000	0.19383|0.19383	CCG|ACC		0.393	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	59	237	0	0	0	1	0	59	237				
OSBPL9	114883	broad.mit.edu	37	1	52237761	52237761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52237761G>A	ENST00000428468.1	+	13	960	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000371710.3_Missense_Mutation_p.V338I|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	320					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCTGCCTCAGTCCTGACACA	0.393																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1012-1014)Gtc>Atc		oxysterol binding protein-like 9							95.0	89.0	91.0					1																	52237761		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52237761G>A	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.958G>A	1.37:g.52237761G>A	ENSP00000407168:p.Val320Ile					OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I|OSBPL9_ENST00000428468.1_Missense_Mutation_p.V320I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I	p.V338I	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			13	1194	+			320					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1012G>A	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169656	0.38315	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.04	5.04	0.67666	.	0.199297	0.43416	D	0.000570	T	0.15478	0.0373	L	0.40543	1.245	0.32136	N	0.586092	B;B;B;B;B	0.11235	0.0;0.004;0.003;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.006;0.004;0.002;0.002	T	0.03875	-1.0996	10	0.35671	T	0.21	-9.6826	12.9341	0.58303	0.0771:0.0:0.9228:0.0	.	303;210;336;320;325	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	I	307;338;325;330;155;320;303;239;155;210;142;142	ENSP00000360779:V307I;ENSP00000360775:V338I;ENSP00000337265:V325I;ENSP00000412733:V330I;ENSP00000402646:V155I;ENSP00000407168:V320I;ENSP00000413263:V303I;ENSP00000433675:V239I;ENSP00000433083:V155I;ENSP00000354970:V210I;ENSP00000433279:V142I;ENSP00000431980:V142I	ENSP00000337265:V325I	V	+	1	0	OSBPL9	52010349	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	4.065000	0.57513	2.621000	0.88768	0.655000	0.94253	GTC		0.393	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			40	141	0	0	0	1	0	40	141				
DICER1	23405	broad.mit.edu	37	14	95572534	95572534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95572534C>T	ENST00000526495.1	-	20	3122	c.2831G>A	c.(2830-2832)cGa>cAa	p.R944Q	DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q|DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	944	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATAAAATCGATGAGGCTG	0.308			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(2830-2832)cGa>cAa		dicer 1, ribonuclease type III							73.0	78.0	76.0					14																	95572534		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95572534C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2831G>A	14.37:g.95572534C>T	ENSP00000437256:p.Arg944Gln					DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q|DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q	p.R944Q			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3122	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	944			PAZ.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.2831G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452143	0.84209	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00308	-1.1829	10	0.30078	T	0.28	-9.8467	19.5062	0.95116	0.0:1.0:0.0:0.0	.	944	Q9UPY3	DICER_HUMAN	Q	944	ENSP00000343745:R944Q;ENSP00000437256:R944Q;ENSP00000376783:R944Q;ENSP00000435681:R944Q;ENSP00000444719:R944Q	ENSP00000343745:R944Q	R	-	2	0	DICER1	94642287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.604000	0.88044	0.655000	0.94253	CGA		0.308	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			73	375	0	0	0	1	0	73	375				
UBN1	29855	broad.mit.edu	37	16	4902975	4902975	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4902975G>A	ENST00000396658.4	+	1	760	c.57G>A	c.(55-57)gcG>gcA	p.A19A	UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A|UBN1_ENST00000262376.6_Silent_p.A19A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	19	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAATCCTGCGTTTTTGAAGA	0.567																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(55-57)gcG>gcA		ubinuclein 1							73.0	73.0	73.0					16																	4902975		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4902975G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.57G>A	16.37:g.4902975G>A						UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000262376.6_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A	p.A19A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			1	760	+			19			Sufficient for interaction with HIRA.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.57G>A	CCDS10525.1																																																																																				0.567	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		34	388	0	0	0	1	0	34	388				
FLNA	2316	broad.mit.edu	37	X	153580292	153580292	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153580292C>A	ENST00000369850.3	-	42	7103	c.6867G>T	c.(6865-6867)aaG>aaT	p.K2289N	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N|FLNA_ENST00000422373.1_Missense_Mutation_p.K2281N|FLNA_ENST00000369856.3_Missense_Mutation_p.K422N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2289					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAGCCGTCCTTGCGGTCCT	0.622																																						ENST00000422373.1																			0				breast(6)	6						c.(6841-6843)aaG>aaT		filamin A, alpha							48.0	51.0	50.0					X																	153580292		1956	4149	6105	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580292C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6867G>T	X.37:g.153580292C>A	ENSP00000358866:p.Lys2289Asn					FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N|FLNA_ENST00000369856.3_Missense_Mutation_p.K422N|FLNA_ENST00000369850.3_Missense_Mutation_p.K2289N	p.K2281N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			41	7091	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2289					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6843G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998200	0.35226	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.19	4.33	0.51752	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94964	0.8371	M	0.82056	2.57	0.51233	D	0.999918	D;P;P;P	0.62365	0.991;0.95;0.797;0.797	D;P;P;P	0.64042	0.921;0.481;0.476;0.476	D	0.94464	0.7679	10	0.72032	D	0.01	.	9.884	0.41251	0.0:0.7734:0.0:0.2266	.	422;2281;2289;2289	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	N	2281;1957;2281;2289;422;2249;229	ENSP00000353467:K2281N;ENSP00000416926:K2281N;ENSP00000358866:K2289N;ENSP00000358872:K422N;ENSP00000358863:K2249N;ENSP00000397824:K229N	ENSP00000358863:K2249N	K	-	3	2	FLNA	153233486	0.900000	0.30661	1.000000	0.80357	0.414000	0.31173	0.006000	0.13152	0.992000	0.38840	-0.297000	0.09499	AAG		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			76	246	1	0	5.21738e-30	1	6.11032e-30	76	246				
XPOT	11260	broad.mit.edu	37	12	64841907	64841907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64841907C>A	ENST00000332707.5	+	25	3414	c.2885C>A	c.(2884-2886)cCc>cAc	p.P962H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	962	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAGCAAAGCCCTGAGGACTG	0.383																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2884-2886)cCc>cAc		exportin, tRNA							136.0	129.0	132.0					12																	64841907		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64841907C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2885C>A	12.37:g.64841907C>A	ENSP00000327821:p.Pro962His						p.P962H	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	25	3414	+			962			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2885C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886625	0.72410	.	.	ENSG00000184575	ENST00000332707	T	0.26067	1.76	5.62	5.62	0.85841	.	0.107943	0.64402	D	0.000003	T	0.31071	0.0785	N	0.08118	0	0.47698	D	0.999495	D	0.63046	0.992	D	0.72338	0.977	T	0.20706	-1.0267	9	.	.	.	.	17.806	0.88601	0.0:1.0:0.0:0.0	.	962	O43592	XPOT_HUMAN	H	962	ENSP00000327821:P962H	.	P	+	2	0	XPOT	63128174	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.484000	0.60271	2.820000	0.97059	0.650000	0.86243	CCC		0.383	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		71	344	1	0	2.47556e-37	1	2.97223e-37	71	344				
LDLRAD1	388633	broad.mit.edu	37	1	54474776	54474776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54474776C>T	ENST00000371360.1	-	6	514	c.497G>A	c.(496-498)gGg>gAg	p.G166E	LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	166	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						GCGCCACCACCCAGGGCCGCA	0.597																																						ENST00000371360.1																			0				large_intestine(3)|prostate(1)|skin(3)	7						c.(496-498)gGg>gAg		low density lipoprotein receptor class A domain containing 1							100.0	96.0	97.0					1																	54474776		2203	4300	6503	SO:0001583	missense	388633					integral to membrane	receptor activity	g.chr1:54474776C>T		CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.497G>A	1.37:g.54474776C>T	ENSP00000360411:p.Gly166Glu					LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E	p.G166E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN			6	514	-			166			LDL-receptor class A 3; atypical.		A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	37	c.497G>A	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239336	0.39598	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.5	3.5	0.40072	.	0.116551	0.38897	N	0.001529	T	0.81983	0.4938	M	0.63428	1.95	0.36118	D	0.845287	B;B	0.12013	0.0;0.005	B;B	0.11329	0.002;0.006	T	0.71087	-0.4694	10	0.08381	T	0.77	-21.6953	4.3843	0.11309	0.0:0.7093:0.0:0.2907	.	123;166	B7ZME3;Q5T700	.;LRAD1_HUMAN	E	77;166;123;127	ENSP00000360413:G77E;ENSP00000360411:G166E;ENSP00000445871:G123E;ENSP00000411017:G127E	ENSP00000360411:G166E	G	-	2	0	LDLRAD1	54247364	0.019000	0.18553	0.980000	0.43619	0.607000	0.37147	0.674000	0.25218	2.348000	0.79779	0.655000	0.94253	GGG		0.597	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978		63	636	0	0	0	1	0	63	636				
FAM160A2	84067	broad.mit.edu	37	11	6245399	6245399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6245399G>A	ENST00000449352.2	-	3	481	c.218C>T	c.(217-219)aCt>aTt	p.T73I	FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I|FAM160A2_ENST00000265978.4_Missense_Mutation_p.T73I			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	73					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCTGGTAAGTGTGGTTGCG	0.622																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(217-219)aCt>aTt		family with sequence similarity 160, member A2							42.0	41.0	41.0					11																	6245399		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245399G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.218C>T	11.37:g.6245399G>A	ENSP00000416918:p.Thr73Ile					FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I|FAM160A2_ENST00000449352.2_Missense_Mutation_p.T73I	p.T73I	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			3	576	-			73					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.218C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332681	0.41297	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.14391	3.13;3.13;2.51	4.85	2.77	0.32553	.	0.127864	0.51477	D	0.000100	T	0.11665	0.0284	L	0.31664	0.95	0.41178	D	0.986217	B;B;P	0.41978	0.215;0.073;0.767	B;B;B	0.44044	0.146;0.103;0.439	T	0.08868	-1.0701	10	0.42905	T	0.14	-6.3832	8.6136	0.33817	0.0935:0.0:0.749:0.1576	.	73;73;73	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	I	73	ENSP00000416918:T73I;ENSP00000265978:T73I;ENSP00000431773:T73I	ENSP00000265978:T73I	T	-	2	0	FAM160A2	6201975	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	1.755000	0.38379	1.230000	0.43646	0.655000	0.94253	ACT		0.622	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		59	246	0	0	0	1	0	59	246				
NRDE2	55051	broad.mit.edu	37	14	90754819	90754819	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90754819C>A	ENST00000354366.3	-	11	3132	c.2900G>T	c.(2899-2901)aGc>aTc	p.S967I	NRDE2_ENST00000357904.3_Missense_Mutation_p.S736I	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	967																	TCTCAGCAGGCTCGTGTGCAT	0.542																																						ENST00000354366.3																			0											c.(2899-2901)aGc>aTc		NRDE-2, necessary for RNA interference, domain containing							90.0	87.0	88.0					14																	90754819		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90754819C>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2900G>T	14.37:g.90754819C>A	ENSP00000346335:p.Ser967Ile					NRDE2_ENST00000357904.3_Missense_Mutation_p.S736I	p.S967I	NM_017970.3	NP_060440.2					11	3132	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2900G>T	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333286	0.11013	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.34275	1.37;1.37	4.85	1.74	0.24563	.	0.317760	0.34338	N	0.004059	T	0.25306	0.0615	M	0.63428	1.95	0.27043	N	0.96398	B;P	0.39282	0.363;0.666	B;B	0.30495	0.037;0.116	T	0.14727	-1.0462	10	0.38643	T	0.18	-10.1793	4.2529	0.10703	0.0:0.495:0.1868:0.3183	.	736;967	E9PBK4;Q9H7Z3	.;CN102_HUMAN	I	967;736	ENSP00000346335:S967I;ENSP00000350579:S736I	ENSP00000346335:S967I	S	-	2	0	C14orf102	89824572	0.383000	0.25156	0.131000	0.22000	0.098000	0.18820	1.294000	0.33365	0.624000	0.30286	0.655000	0.94253	AGC		0.542	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		66	297	1	0	8.3131e-28	1	9.64569e-28	66	297				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			10	405	0	0	0	1	0	10	405				
ATP11B	23200	broad.mit.edu	37	3	182615133	182615133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182615133G>A	ENST00000323116.5	+	27	3351	c.3091G>A	c.(3091-3093)Gtt>Att	p.V1031I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1031					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)			CAACCATCTCGTTACCTGGGG	0.303																																						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.(3091-3093)Gtt>Att		ATPase, class VI, type 11B							131.0	147.0	141.0					3																	182615133		2203	4294	6497	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.chr3:182615133G>A	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.3091G>A	3.37:g.182615133G>A	ENSP00000321195:p.Val1031Ile						p.V1031I	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)		27	3351	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1031					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.3091G>A	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.145252|5.145252	0.94603|0.94603	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000491699|ENST00000323116	.|T	.|0.39406	.|1.08	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	.|D;P	.|0.76494	.|0.999;0.755	.|D;B	.|0.75020	.|0.985;0.312	T|T	0.58352|0.58352	-0.7651|-0.7651	5|10	.|0.52906	.|T	.|0.07	.|.	19.663|19.663	0.95879|0.95879	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|605;1031	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	H|I	15|1031	.|ENSP00000321195:V1031I	.|ENSP00000321195:V1031I	R|V	+|+	2|1	0|0	ATP11B|ATP11B	184097827|184097827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.348000|9.348000	0.97062|0.97062	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.303	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		174	836	0	0	0	1	0	174	836				
C21orf62	56245	broad.mit.edu	37	21	34166516	34166516	+	Nonsense_Mutation	SNP	G	G	A	rs200414165		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34166516G>A	ENST00000536776.1	-	2	357	c.217C>T	c.(217-219)Cga>Tga	p.R73*	C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000479548.1_Nonsense_Mutation_p.R73*|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000490358.1_Nonsense_Mutation_p.R73*|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000487113.1_Nonsense_Mutation_p.R73*	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	73										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				TAGCTGGTTCGCTCTACTGCA	0.547																																						ENST00000536776.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(217-219)Cga>Tga		chromosome 21 open reading frame 62							110.0	110.0	110.0					21																	34166516		2110	4219	6329	SO:0001587	stop_gained	56245							g.chr21:34166516G>A	AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.217C>T	21.37:g.34166516G>A	ENSP00000444950:p.Arg73*					C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000490358.1_Nonsense_Mutation_p.R73*|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000479548.1_Nonsense_Mutation_p.R73*|C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000487113.1_Nonsense_Mutation_p.R73*|C21orf49_ENST00000453404.1_Intron	p.R73*	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN			2	357	-		Myeloproliferative disorder(46;0.0255)	73					A8K4L8	Nonsense_Mutation	SNP	ENST00000536776.1	37	c.217C>T	CCDS42919.2	.	.	.	.	.	.	.	.	.	.	G	6.400	0.441868	0.12164	.	.	ENSG00000205929	ENST00000536776;ENST00000490358;ENST00000487113;ENST00000382373;ENST00000479548	.	.	.	5.23	-0.276	0.12902	.	0.712418	0.11534	U	0.554426	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7039	11.3801	0.49752	0.0:0.1101:0.238:0.6519	.	.	.	.	X	73;73;73;120;73	.	ENSP00000371810:R120X	R	-	1	2	C21orf62	33088386	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.136000	0.15974	-0.385000	0.07833	0.462000	0.41574	CGA		0.547	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139598.5	NM_019596		18	354	0	0	0	1	0	18	354				
FDPS	2224	broad.mit.edu	37	1	155289473	155289473	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155289473G>A	ENST00000356657.6	+	9	1080	c.918G>A	c.(916-918)caG>caA	p.Q306Q	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q240Q|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000368356.4_Silent_p.Q306Q|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	306					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTTCTTTCAGATTCAGGTAA	0.552																																						ENST00000356657.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(916-918)caG>caA		farnesyl diphosphate synthase	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						81.0	82.0	82.0					1																	155289473		2203	4300	6503	SO:0001819	synonymous_variant	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155289473G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.918G>A	1.37:g.155289473G>A						FDPS_ENST00000368356.4_Silent_p.Q306Q|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q240Q|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	p.Q306Q	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	1080	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		306					D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	37	c.918G>A	CCDS1110.1																																																																																				0.552	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		98	435	0	0	0	1	0	98	435				
CD63	967	broad.mit.edu	37	12	56121030	56121030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56121030G>A	ENST00000549117.1	-	3	596	c.160C>T	c.(160-162)Cca>Tca	p.P54S	CD63_ENST00000257857.4_Missense_Mutation_p.P54S|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000548160.1_5'Flank|CD63_ENST00000552692.1_Missense_Mutation_p.P54S|CD63_ENST00000548898.1_5'Flank|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000546939.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	54					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATGACCACTGGCAACAGAGAG	0.577																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(160-162)Cca>Tca		CD63 molecule							103.0	103.0	103.0					12																	56121030		2203	4300	6503	SO:0001583	missense	0				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56121030G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.160C>T	12.37:g.56121030G>A	ENSP00000447730:p.Pro54Ser					CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.P54S|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552692.1_Missense_Mutation_p.P54S	p.P54S	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN			3	596	-			54					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	c.160C>T	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703758	0.88924	.	.	ENSG00000135404	ENST00000420846;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000552164;ENST00000551173;ENST00000546457	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.35	4.46	0.54185	.	0.054955	0.64402	N	0.000001	D	0.86510	0.5950	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;0.975;0.995	D;P;D	0.97110	1.0;0.893;0.951	D	0.87355	0.2340	10	0.56958	D	0.05	.	12.4812	0.55844	0.0829:0.0:0.9171:0.0	.	31;54;54	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	S	54;54;54;54;31;54;54;54	ENSP00000393502:P54S;ENSP00000449337:P54S;ENSP00000447730:P54S;ENSP00000257857:P54S;ENSP00000446807:P31S;ENSP00000449281:P54S;ENSP00000446752:P54S;ENSP00000450191:P54S	ENSP00000257857:P54S	P	-	1	0	CD63	54407297	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	4.977000	0.63792	1.593000	0.50029	0.655000	0.94253	CCA		0.577	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			150	605	0	0	0	1	0	150	605				
PLA2G6	8398	broad.mit.edu	37	22	38512102	38512102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38512102C>A	ENST00000332509.3	-	13	2042	c.1859G>T	c.(1858-1860)aGg>aTg	p.R620M	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	620	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCTGGAGGCCTGAGGTTAAC	0.582																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1858-1860)aGg>aTg		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						71.0	68.0	69.0					22																	38512102		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38512102C>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1859G>T	22.37:g.38512102C>A	ENSP00000333142:p.Arg620Met					PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M	p.R620M	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			13	2042	-	Melanoma(58;0.045)		620					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.1859G>T	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	c	13.60	2.285178	0.40394	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.80480	-1.38;-1.38;-1.38	4.57	-2.08	0.07254	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.372399	0.30771	N	0.008917	T	0.78761	0.4334	M	0.67700	2.07	0.25226	N	0.989869	B;P	0.37176	0.32;0.586	B;P	0.46419	0.176;0.516	T	0.72077	-0.4399	10	0.62326	D	0.03	-17.3447	6.2876	0.21041	0.0:0.3876:0.1364:0.476	.	566;620	O60733-2;O60733	.;PA2G6_HUMAN	M	620;481;566;566	ENSP00000333142:R620M;ENSP00000335149:R566M;ENSP00000386100:R566M	ENSP00000333142:R620M	R	-	2	0	PLA2G6	36842048	0.034000	0.19679	0.497000	0.27552	0.065000	0.16274	0.078000	0.14761	-0.412000	0.07519	-0.258000	0.10820	AGG		0.582	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		53	238	1	0	9.72345e-25	1	1.11288e-24	53	238				
HIF1A	3091	broad.mit.edu	37	14	62207888	62207888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62207888C>A	ENST00000337138.4	+	12	2340	c.2075C>A	c.(2074-2076)tCt>tAt	p.S692Y	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.S693Y|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	692	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|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, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AACGTGTTATCTGTCGCTTTG	0.333																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(2077-2079)tCt>tAt		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							81.0	74.0	77.0					14																	62207888		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62207888C>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2075C>A	14.37:g.62207888C>A	ENSP00000338018:p.Ser692Tyr					HIF1A_ENST00000337138.4_Missense_Mutation_p.S692Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y	p.S693Y			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	12	2343	+			692			ID.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.2078C>A	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136336	0.37728	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.56776	0.59;0.59;0.44;0.59;0.58	5.72	5.72	0.89469	.	1.828410	0.02128	N	0.056185	T	0.57359	0.2048	L	0.48642	1.525	0.37396	D	0.912625	P;P;P	0.42357	0.777;0.731;0.731	B;B;B	0.37047	0.232;0.24;0.24	T	0.60342	-0.7282	10	0.66056	D	0.02	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	693;692;692	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	Y	443;633;692;693;692;633;716	ENSP00000338018:S692Y;ENSP00000378446:S693Y;ENSP00000323326:S692Y;ENSP00000451696:S633Y;ENSP00000437955:S716Y	ENSP00000323326:S692Y	S	+	2	0	HIF1A	61277641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.937000	0.56575	2.857000	0.98124	0.650000	0.86243	TCT		0.333	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		65	308	1	0	1.85257e-25	1	2.12574e-25	65	308				
GAK	2580	broad.mit.edu	37	4	871406	871406	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:871406A>G	ENST00000314167.4	-	16	1963	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GAK_ENST00000511163.1_Missense_Mutation_p.M539T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	618	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTCACCGCATCTTGTCGTA	0.652																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1852-1854)aTg>aCg		cyclin G associated kinase							47.0	43.0	45.0					4																	871406		2202	4299	6501	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:871406A>G	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1853T>C	4.37:g.871406A>G	ENSP00000314499:p.Met618Thr					GAK_ENST00000511163.1_Missense_Mutation_p.M539T	p.M618T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	16	1963	-			618			C2 tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1853T>C	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192949	0.78902	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.84800	-1.9;-1.9	5.71	5.71	0.89125	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.70487	0.938;0.92;0.969;0.969	D	0.92856	0.6301	10	0.72032	D	0.01	.	13.9333	0.64010	1.0:0.0:0.0:0.0	.	539;539;618;514	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	T	618;539	ENSP00000314499:M618T;ENSP00000421361:M539T	ENSP00000314499:M618T	M	-	2	0	GAK	861406	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	8.619000	0.90938	2.178000	0.69098	0.533000	0.62120	ATG		0.652	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		47	245	0	0	0	1	0	47	245				
ENTPD8	377841	broad.mit.edu	37	9	140329483	140329483	+	Silent	SNP	C	C	T	rs140934866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140329483C>T	ENST00000472938.1	-	9	1387	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	ENTPD8_ENST00000344119.2_Silent_p.P420P|ENTPD8_ENST00000371506.2_Silent_p.P457P			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	457					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCCACTGAGCCGGCGCATCGG	0.677																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(1369-1371)ccG>ccA		ectonucleoside triphosphate diphosphohydrolase 8		C	,	0,4394		0,0,2197	49.0	48.0	49.0		1371,1260	-10.1	0.0	9	dbSNP_134	49	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ENTPD8	NM_001033113.1,NM_198585.2	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	457/496,420/459	140329483	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140329483C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1371G>A	9.37:g.140329483C>T						ENTPD8_ENST00000472938.1_Silent_p.P457P|ENTPD8_ENST00000344119.2_Silent_p.P420P	p.P457P	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	10	1554	-	all_cancers(76;0.0926)		457					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.1371G>A	CCDS43913.1																																																																																				0.677	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		35	109	0	0	0	1	0	35	109				
KAT6B	23522	broad.mit.edu	37	10	76603081	76603081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76603081G>A	ENST00000287239.4	+	3	955	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	KAT6B_ENST00000372711.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372724.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372714.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372725.1_Missense_Mutation_p.A156T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	156	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCGACTGGGGGCCAAACGCGC	0.527																																						ENST00000287239.4																			0											c.(466-468)Gcc>Acc		K(lysine) acetyltransferase 6B							67.0	66.0	66.0					10																	76603081		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76603081G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.466G>A	10.37:g.76603081G>A	ENSP00000287239:p.Ala156Thr					KAT6B_ENST00000372711.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372724.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372725.1_Missense_Mutation_p.A156T|KAT6B_ENST00000372714.1_Missense_Mutation_p.A156T	p.A156T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			3	955	+			156			H15.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.466G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981843	0.74474	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	6.04	6.04	0.98038	.	0.000000	0.45867	D	0.000338	T	0.38108	0.1028	L	0.37630	1.12	0.43622	D	0.996003	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.69824	0.942;0.922;0.966	T	0.00872	-1.1532	10	0.25106	T	0.35	-10.7748	20.5948	0.99439	0.0:0.0:1.0:0.0	.	156;156;156	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	T	156	ENSP00000361810:A156T;ENSP00000361809:A156T;ENSP00000287239:A156T;ENSP00000361799:A156T;ENSP00000361796:A156T	ENSP00000287239:A156T	A	+	1	0	KAT6B	76273087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.321000	0.72881	2.873000	0.98535	0.563000	0.77884	GCC		0.527	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		65	289	0	0	0	1	0	65	289				
TMEM165	55858	broad.mit.edu	37	4	56277926	56277926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56277926C>T	ENST00000381334.5	+	2	586	c.353C>T	c.(352-354)gCc>gTc	p.A118V	Y_RNA_ENST00000459077.1_RNA|TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	118					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTATAGCAGCCATCATGGCA	0.448																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(352-354)gCc>gTc		transmembrane protein 165							117.0	102.0	107.0					4																	56277926		2203	4300	6503	SO:0001583	missense	55858					integral to membrane		g.chr4:56277926C>T	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.353C>T	4.37:g.56277926C>T	ENSP00000370736:p.Ala118Val					TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron	p.A118V	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		2	586	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		118					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	c.353C>T	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366242	0.95900	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.82255	-1.59;-1.59	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.979;1.0	D	0.90158	0.4226	10	0.54805	T	0.06	-16.7347	19.3813	0.94536	0.0:1.0:0.0:0.0	.	55;118	B4DHW1;Q9HC07	.;TM165_HUMAN	V	118;55	ENSP00000370736:A118V;ENSP00000437816:A55V	ENSP00000370736:A118V	A	+	2	0	TMEM165	55972683	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.288000	0.78691	2.798000	0.96311	0.655000	0.94253	GCC		0.448	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		53	200	0	0	0	1	0	53	200				
TEX13A	56157	broad.mit.edu	37	X	104464070	104464070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464070G>A	ENST00000413579.1	-	5	917	c.806C>T	c.(805-807)tCg>tTg	p.S269L	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W|TEX13A_ENST00000372578.3_Missense_Mutation_p.R270W|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	269							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTTTCGACCGACCGGAGATC	0.537																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(808-810)Cgg>Tgg		testis expressed 13A							87.0	88.0	87.0					X																	104464070		2078	4208	6286	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464070G>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.806C>T	X.37:g.104464070G>A	ENSP00000399753:p.Ser269Leu					TEX13A_ENST00000413579.1_Missense_Mutation_p.S269L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W	p.R270W	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	919	-			0					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.808C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.768797|2.768797	0.49680|0.49680	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	3.45|3.45	0.39498|0.39498	.|.	.|0.294550	.|0.18682	.|N	.|0.134132	T|T	0.48095|0.48095	0.1481|0.1481	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.53035	.|0.716	T|T	0.35051|0.35051	-0.9804|-0.9804	6|9	0.87932|0.54805	D|T	0|0.06	.|.	9.4612|9.4612	0.38785|0.38785	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|269	.|Q9BXU3	.|TX13A_HUMAN	W|L	270|269	.|.	ENSP00000361656:R270W|ENSP00000399753:S269L	R|S	-|-	1|2	2|0	TEX13A|TEX13A	104350726|104350726	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	1.334000|1.334000	0.33827|0.33827	1.976000|1.976000	0.57569|0.57569	0.513000|0.513000	0.50165|0.50165	CGG|TCG		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		9	250	0	0	0	1	0	9	250				
RNF157	114804	broad.mit.edu	37	17	74169839	74169839	+	Silent	SNP	G	G	A	rs201544317		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169839G>A	ENST00000269391.6	-	3	372	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RNF157_ENST00000319945.6_Silent_p.P80P	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	80			P -> H (in dbSNP:rs2289602).				zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GAGTCTTCACGGGTTCTTGGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		16235	0.001		0.0	False		,,,				2504	0.0				GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(238-240)ccC>ccT		ring finger protein 157							51.0	45.0	47.0					17																	74169839		2203	4300	6503	SO:0001819	synonymous_variant	114804						zinc ion binding	g.chr17:74169839G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.240C>T	17.37:g.74169839G>A						RNF157_ENST00000319945.6_Silent_p.P80P	p.P80P	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	372	-			80		P -> H (in dbSNP:rs2289602).			Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	37	c.240C>T	CCDS32740.1																																																																																				0.537	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		19	74	0	0	0	1	0	19	74				
CNTNAP3	79937	broad.mit.edu	37	9	39109231	39109231	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39109231A>C	ENST00000297668.6	-	15	2364	c.2291T>G	c.(2290-2292)aTt>aGt	p.I764S	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	764	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTCATCACAATCTGAGTGAC	0.453																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(2290-2292)aTt>aGt		contactin associated protein-like 3							48.0	44.0	45.0					9																	39109231		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39109231A>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2291T>G	9.37:g.39109231A>C	ENSP00000297668:p.Ile764Ser					CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S	p.I764S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	15	2364	-			764			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.2291T>G	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181223	0.38511	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.16196	2.36;2.36;2.36	2.99	1.78	0.24846	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.34337	0.0894	M	0.80422	2.495	0.44603	D	0.997579	D;D;P	0.62365	0.973;0.991;0.956	P;D;P	0.66497	0.733;0.944;0.757	T	0.10567	-1.0624	9	0.23891	T	0.37	.	7.4277	0.27109	0.8056:0.0:0.0:0.1944	.	764;763;764	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	S	764;763;676	ENSP00000297668:I764S;ENSP00000366884:I763S;ENSP00000350863:I676S	ENSP00000297668:I764S	I	-	2	0	CNTNAP3	39099231	0.705000	0.27846	0.002000	0.10522	0.397000	0.30659	6.375000	0.73137	0.338000	0.23692	0.254000	0.18369	ATT		0.453	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		31	153	0	0	0	1	0	31	153				
GMPPB	29925	broad.mit.edu	37	3	49759356	49759356	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49759356C>T	ENST00000480687.1	-	10	1068				AMIGO3_ENST00000535833.1_Intron|GMPPB_ENST00000308388.6_Intron|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_Silent_p.E331E			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)		GGCAGGCACACTCCCCGCCCC	0.617																																						ENST00000308375.6																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(991-993)gaG>gaA		GDP-mannose pyrophosphorylase B							62.0	59.0	60.0					3																	49759356		2203	4300	6503	SO:0001627	intron_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759356C>T	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.952-40G>A	3.37:g.49759356C>T						GMPPB_ENST00000308388.6_Intron|AMIGO3_ENST00000535833.1_Intron|GMPPB_ENST00000480687.1_Intron	p.E331E			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1217	-			317					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.993G>A	CCDS2803.1																																																																																				0.617	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		9	448	0	0	0	1	0	9	448				
C7orf61	402573	broad.mit.edu	37	7	100060989	100060989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100060989C>T	ENST00000332375.3	-	2	629	c.384G>A	c.(382-384)tgG>tgA	p.W128*	TSC22D4_ENST00000496728.1_5'UTR|RN7SL161P_ENST00000582642.1_RNA	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	128						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						TGCTGACCTTCCAGCTGCACA	0.592																																						ENST00000332375.3																			0				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						c.(382-384)tgG>tgA		chromosome 7 open reading frame 61							62.0	67.0	65.0					7																	100060989		2060	4207	6267	SO:0001587	stop_gained	402573							g.chr7:100060989C>T		CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.384G>A	7.37:g.100060989C>T	ENSP00000327732:p.Trp128*					TSC22D4_ENST00000496728.1_5'UTR	p.W128*	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN			2	629	-			128						Nonsense_Mutation	SNP	ENST00000332375.3	37	c.384G>A	CCDS47661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.496895|2.496895	0.44352|0.44352	.|.	.|.	ENSG00000185955|ENSG00000185955	ENST00000418952|ENST00000332375	.|.	.|.	.|.	4.02|4.02	3.14|3.14	0.36123|0.36123	.|.	.|0.000000	.|0.37715	.|N	.|0.001969	T|.	0.27489|.	0.0675|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15122|.	-1.0448|.	4|.	.|0.02654	.|T	.|1	-0.0079|-0.0079	7.6939|7.6939	0.28583|0.28583	0.0:0.8864:0.0:0.1136|0.0:0.8864:0.0:0.1136	.|.	.|.	.|.	.|.	K|X	170|128	.|.	.|ENSP00000327732:W128X	E|W	-|-	1|3	0|0	C7orf61|C7orf61	99898925|99898925	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	3.018000|3.018000	0.49625|0.49625	1.292000|1.292000	0.44672|0.44672	0.561000|0.561000	0.74099|0.74099	GAA|TGG		0.592	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316976.2	NM_001004323		106	394	0	0	0	1	0	106	394				
NGRN	51335	broad.mit.edu	37	15	90814847	90814847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90814847C>T	ENST00000379095.3	+	3	711	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	235					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGAGAGCTGCAGAAGTACTC	0.517																																						ENST00000379095.3																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(703-705)Cag>Tag		neugrin, neurite outgrowth associated							50.0	45.0	47.0					15																	90814847		2199	4298	6497	SO:0001587	stop_gained	51335				neuron differentiation	extracellular region|nucleus		g.chr15:90814847C>T	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.703C>T	15.37:g.90814847C>T	ENSP00000368389:p.Gln235*					NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	p.Q235*	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		3	711	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		235					B2R6M8|Q4V9L7|Q9HBL4	Nonsense_Mutation	SNP	ENST00000379095.3	37	c.703C>T	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583783	0.46006	.	.	ENSG00000182768	ENST00000379095	.	.	.	3.67	2.74	0.32292	.	0.433136	0.19828	U	0.105146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.6392	0.45584	0.1933:0.8067:0.0:0.0	.	.	.	.	X	235	.	ENSP00000368389:Q235X	Q	+	1	0	NGRN	88615851	0.167000	0.22975	0.003000	0.11579	0.323000	0.28346	1.272000	0.33109	1.108000	0.41662	0.557000	0.71058	CAG		0.517	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1			13	192	0	0	0	1	0	13	192				
XDH	7498	broad.mit.edu	37	2	31570487	31570487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31570487G>A	ENST00000379416.3	-	29	3225	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1059					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AAATCTTAGAGGTGGGGATTT	0.542																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3175-3177)acC>acT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						107.0	110.0	109.0					2																	31570487		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31570487G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3177C>T	2.37:g.31570487G>A							p.T1059T	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			29	3225	-	Acute lymphoblastic leukemia(172;0.155)		1059					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.3177C>T	CCDS1775.1																																																																																				0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		124	377	0	0	0	1	0	124	377				
SLC13A3	64849	broad.mit.edu	37	20	45188796	45188796	+	Silent	SNP	C	C	T	rs141947019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45188796C>T	ENST00000279027.4	-	13	1692	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000495082.1_Silent_p.L511L|SLC13A3_ENST00000290317.5_Silent_p.L511L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	558					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCAAACTGAGCAGCAGGACAC	0.557																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1672-1674)ctG>ctA		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						169.0	143.0	152.0					20																	45188796		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45188796C>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1674G>A	20.37:g.45188796C>T						SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000290317.5_Silent_p.L511L|SLC13A3_ENST00000495082.1_Silent_p.L511L	p.L558L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			13	1692	-		Myeloproliferative disorder(115;0.0122)	558					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1674G>A	CCDS13400.1																																																																																				0.557	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			96	549	0	0	0	1	0	96	549				
TCHH	7062	broad.mit.edu	37	1	152085355	152085355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152085355C>T	ENST00000368804.1	-	2	337	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	113					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTGCCTGCGATCTTGTAA	0.567																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(337-339)cGc>cAc		trichohyalin							194.0	184.0	187.0					1																	152085355		1947	4154	6101	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085355C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.338G>A	1.37:g.152085355C>T	ENSP00000357794:p.Arg113His						p.R113H	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	337	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		113					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.338G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.389	0.630450	0.14322	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	4.71	1.59	0.23543	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.24988	N	0.991556	P	0.48589	0.912	B	0.36608	0.229	T	0.42832	-0.9428	9	0.48119	T	0.1	-1.9391	1.3116	0.02099	0.1722:0.4464:0.1869:0.1946	.	113	Q07283	TRHY_HUMAN	H	113	ENSP00000357794:R113H	ENSP00000357794:R113H	R	-	2	0	TCHH	150351979	0.001000	0.12720	0.931000	0.37212	0.100000	0.18952	-0.024000	0.12435	0.694000	0.31654	0.552000	0.68991	CGC		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		277	880	0	0	0	1	0	277	880				
C5orf42	65250	broad.mit.edu	37	5	37181020	37181020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37181020C>T	ENST00000508244.1	-	26	5602	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T|C5orf42_ENST00000274258.7_Missense_Mutation_p.A718T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1837						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGAGTTGCTACTGCAACT	0.408																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(2152-2154)Gca>Aca		chromosome 5 open reading frame 42							73.0	68.0	70.0					5																	37181020		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37181020C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5509G>A	5.37:g.37181020C>T	ENSP00000421690:p.Ala1837Thr					C5orf42_ENST00000508244.1_Missense_Mutation_p.A1837T|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T	p.A718T			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		27	5739	-	all_lung(31;0.000616)		1837					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.2152G>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988272	0.53934	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.49	-3.59	0.04583	.	1.663970	0.03492	N	0.216836	T	0.08582	0.0213	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.10450	0.005;0.005	T	0.22417	-1.0217	10	0.02654	T	1	.	1.5266	0.02526	0.1462:0.3921:0.1864:0.2753	.	1837;718	E9PH94;Q9H799	.;CE042_HUMAN	T	1837;1837;718;885;718	ENSP00000421690:A1837T;ENSP00000389014:A1837T;ENSP00000274258:A718T;ENSP00000424223:A885T	ENSP00000274258:A718T	A	-	1	0	C5orf42	37216777	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.426000	0.07008	-0.310000	0.08766	0.655000	0.94253	GCA		0.408	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		42	212	0	0	0	1	0	42	212				
PLXNA3	55558	broad.mit.edu	37	X	153698803	153698803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698803G>A	ENST00000369682.3	+	30	5180	c.5005G>A	c.(5005-5007)Gtg>Atg	p.V1669M	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1669					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGAAGTTCGTGGATGACCT	0.607																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(5005-5007)Gtg>Atg		plexin A3							76.0	68.0	71.0					X																	153698803		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698803G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5005G>A	X.37:g.153698803G>A	ENSP00000358696:p.Val1669Met					PLXNA3_ENST00000493546.1_3'UTR	p.V1669M	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			30	5180	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1669					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.5005G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780325	0.90195	.	.	ENSG00000130827	ENST00000369682	T	0.18174	2.23	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.58289	-0.7662	10	0.87932	D	0	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	1669	P51805	PLXA3_HUMAN	M	1669	ENSP00000358696:V1669M	ENSP00000358696:V1669M	V	+	1	0	PLXNA3	153351997	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	9.860000	0.99555	2.072000	0.62099	0.529000	0.55759	GTG		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		52	413	0	0	0	1	0	52	413				
FAM105A	54491	broad.mit.edu	37	5	14601224	14601224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14601224A>G	ENST00000274217.3	+	2	335	c.215A>G	c.(214-216)aAg>aGg	p.K72R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	72										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TCAGGGCACAAGCTGAAATGG	0.393																																						ENST00000274217.3																			0				large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(214-216)aAg>aGg		family with sequence similarity 105, member A							182.0	172.0	175.0					5																	14601224		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14601224A>G		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.215A>G	5.37:g.14601224A>G	ENSP00000274217:p.Lys72Arg						p.K72R	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			2	335	+	Lung NSC(4;0.00592)		72					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.215A>G	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.694862	0.00731	.	.	ENSG00000145569	ENST00000274217	T	0.16743	2.32	5.35	-0.0825	0.13697	.	0.956413	0.08727	N	0.902566	T	0.04588	0.0125	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41734	-0.9492	10	0.07175	T	0.84	-3.3211	4.9693	0.14108	0.4692:0.0:0.384:0.1468	.	72	Q9NUU6	F105A_HUMAN	R	72	ENSP00000274217:K72R	ENSP00000274217:K72R	K	+	2	0	FAM105A	14654224	0.229000	0.23729	0.020000	0.16555	0.167000	0.22549	1.067000	0.30616	-0.256000	0.09473	-0.408000	0.06270	AAG		0.393	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		116	627	0	0	0	1	0	116	627				
CDH18	1016	broad.mit.edu	37	5	19612635	19612635	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19612635T>G	ENST00000507958.1	-	8	1709	c.719A>C	c.(718-720)gAc>gCc	p.D240A	CDH18_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A|CDH18_ENST00000502796.1_Missense_Mutation_p.D240A			Q13634	CAD18_HUMAN	cadherin 18, type 2	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCAGCCATGTCTTTGGCTTG	0.418																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(718-720)gAc>gCc		cadherin 18, type 2							144.0	132.0	136.0					5																	19612635		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612635T>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.719A>C	5.37:g.19612635T>G	ENSP00000425093:p.Asp240Ala					CDH18_ENST00000502796.1_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A	p.D240A			Q13634	CAD18_HUMAN			8	1709	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		240			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.719A>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746706	0.89663	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.95	5.95	0.96441	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.96861	3.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91748	0.5410	9	.	.	.	.	15.2309	0.73386	0.0:0.0:0.0:1.0	.	240;240	B4DHG6;Q13634	.;CAD18_HUMAN	A	240;240;240;240;240;240;186;240	ENSP00000371710:D240A;ENSP00000425093:D240A;ENSP00000274170:D240A;ENSP00000424931:D240A;ENSP00000422138:D240A;ENSP00000427383:D186A;ENSP00000425854:D240A	.	D	-	2	0	CDH18	19648392	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.890000	0.87313	2.272000	0.75746	0.460000	0.39030	GAC		0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		54	232	0	0	0	1	0	54	232				
WWC1	23286	broad.mit.edu	37	5	167833206	167833206	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167833206C>T	ENST00000265293.4	+	6	1096	c.594C>T	c.(592-594)atC>atT	p.I198I	WWC1_ENST00000521089.1_Silent_p.I198I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	198					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCTAGAATCGATAAGAAAA	0.483																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(592-594)atC>atT		WW and C2 domain containing 1							129.0	118.0	122.0					5																	167833206		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167833206C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.594C>T	5.37:g.167833206C>T						WWC1_ENST00000521089.1_Silent_p.I198I	p.I198I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	6	1096	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	198					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.594C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317446	0.23908	.	.	ENSG00000113645	ENST00000393895	.	.	.	5.45	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0813	0.09927	0.0:0.472:0.0:0.528	.	.	.	.	X	160	.	.	R	+	1	2	WWC1	167765784	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.431000	0.21444	1.284000	0.44531	0.561000	0.74099	CGA		0.483	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		96	452	0	0	0	1	0	96	452				
PLEKHG2	64857	broad.mit.edu	37	19	39905984	39905984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39905984C>A	ENST00000409794.3	+	4	1234	c.384C>A	c.(382-384)taC>taA	p.Y128*	PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Y69*|PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.Y128*	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	128	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AACAGGACTACCTGGGCCCTC	0.642																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(382-384)taC>taA		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							40.0	37.0	38.0					19																	39905984		2203	4300	6503	SO:0001587	stop_gained	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39905984C>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.384C>A	19.37:g.39905984C>A	ENSP00000386733:p.Tyr128*					PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Y69*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.Y128*	p.Y128*			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		4	709	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		128			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	ENST00000409794.3	37	c.384C>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.26|19.26	3.794245|3.794245	0.70452|0.70452	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354	.|.	.|.	.|.	4.49|4.49	3.45|3.45	0.39498|0.39498	.|.	.|0.000000	.|0.47455	.|D	.|0.000222	T|.	0.52901|.	0.1763|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63120|.	-0.6708|.	3|.	.|.	.|.	.|.	.|.	10.3059|10.3059	0.43680|0.43680	0.0:0.9018:0.0:0.0982|0.0:0.9018:0.0:0.0982	.|.	.|.	.|.	.|.	N|X	25|128;128;128;69;128;129	.|.	.|.	T|Y	+|+	2|3	0|2	PLEKHG2|PLEKHG2	44597824|44597824	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	0.373000|0.373000	0.20484|0.20484	1.108000|1.108000	0.41662|0.41662	0.491000|0.491000	0.48974|0.48974	ACC|TAC		0.642	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		10	156	1	0	3.86212e-05	1	3.93988e-05	10	156				
CNTLN	54875	broad.mit.edu	37	9	17298326	17298326	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17298326A>G	ENST00000380647.3	+	7	1206	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000380641.4_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	374					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGTTCACACAGCTGAAAGTA	0.333																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1120-1122)acA>acG		centlein, centrosomal protein							70.0	67.0	68.0					9																	17298326		1883	4109	5992	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17298326A>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1122A>G	9.37:g.17298326A>G						CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000380641.4_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T	p.T374T			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	7	1206	+			374					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.1122A>G	CCDS43789.1																																																																																				0.333	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		30	177	0	0	0	1	0	30	177				
CROCC	9696	broad.mit.edu	37	1	17281989	17281989	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281989G>T	ENST00000375541.5	+	24	3717	c.3648G>T	c.(3646-3648)cgG>cgT	p.R1216R		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCCCTGCGGCGTTCCAATG	0.677																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3646-3648)cgG>cgT		ciliary rootlet coiled-coil, rootletin							21.0	13.0	16.0					1																	17281989		2160	4259	6419	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17281989G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3648G>T	1.37:g.17281989G>T							p.R1216R	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	24	3717	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1216						Silent	SNP	ENST00000375541.5	37	c.3648G>T	CCDS30616.1																																																																																				0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	52	1	0	0.000602214	1	0.000609647	5	52				
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Missense_Mutation	SNP	C	C	A	rs147415195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967122C>A	ENST00000282701.2	+	2	867	c.547C>A	c.(547-549)Ctg>Atg	p.L183M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	183					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(547-549)Ctg>Atg		bone morphogenetic protein 3							156.0	156.0	156.0					4																	81967122		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967122C>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.547C>A	4.37:g.81967122C>A	ENSP00000282701:p.Leu183Met						p.L183M	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	867	+			183					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.547C>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458660	0.26248	.	.	ENSG00000152785	ENST00000282701	T	0.64438	-0.1	4.84	2.98	0.34508	Transforming growth factor-beta, N-terminal (1);	0.162830	0.56097	D	0.000038	T	0.65270	0.2675	M	0.70275	2.135	0.28301	N	0.923107	D	0.60575	0.988	P	0.55923	0.787	T	0.59473	-0.7448	10	0.40728	T	0.16	.	2.6952	0.05133	0.2072:0.4839:0.0:0.3089	.	183	P12645	BMP3_HUMAN	M	183	ENSP00000282701:L183M	ENSP00000282701:L183M	L	+	1	2	BMP3	82186146	1.000000	0.71417	0.986000	0.45419	0.026000	0.11368	3.579000	0.53900	1.412000	0.46977	0.655000	0.94253	CTG		0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			138	741	1	0	2.40396e-54	1	3.00087e-54	138	741				
CBX1	10951	broad.mit.edu	37	17	46154252	46154252	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46154252G>A	ENST00000393408.3	-	2	595	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	CBX1_ENST00000225603.4_Missense_Mutation_p.L39F|CBX1_ENST00000495350.1_Missense_Mutation_p.L39F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	39	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CACTTTAGGAGGTACTCCACT	0.458																																					NSCLC(136;694 2497 38792 39034)	ENST00000393408.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						c.(115-117)Ctc>Ttc		chromobox homolog 1							280.0	231.0	248.0					17																	46154252		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46154252G>A	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.115C>T	17.37:g.46154252G>A	ENSP00000377060:p.Leu39Phe					CBX1_ENST00000495350.1_Missense_Mutation_p.L39F|CBX1_ENST00000225603.4_Missense_Mutation_p.L39F	p.L39F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN			2	595	-			39			Chromo 1.		P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.115C>T	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964686	0.18583	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.85	4.88	0.63580	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.64402	U	0.000008	T	0.73690	0.3619	L	0.32530	0.975	0.80722	D	1	B	0.16603	0.018	B	0.20767	0.031	T	0.66791	-0.5834	10	0.10902	T	0.67	-11.6346	14.0385	0.64660	0.0739:0.0:0.9261:0.0	.	39	P83916	CBX1_HUMAN	F	39	ENSP00000225603:L39F;ENSP00000377060:L39F;ENSP00000385413:L39F;ENSP00000393179:L39F	ENSP00000225603:L39F	L	-	1	0	CBX1	43509251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.835000	0.99442	1.478000	0.48253	0.655000	0.94253	CTC		0.458	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		123	585	0	0	0	1	0	123	585				
CTSV	1515	broad.mit.edu	37	9	99799653	99799653	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99799653C>A	ENST00000259470.5	-	4	526	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	CTSV_ENST00000538255.1_Missense_Mutation_p.G93C|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	93					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										CGAAAGCAACCCATCATCTGC	0.413																																						ENST00000259470.5																			0											c.(277-279)Ggt>Tgt		cathepsin V							104.0	104.0	104.0					9																	99799653		2203	4300	6503	SO:0001583	missense	1515							g.chr9:99799653C>A	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.277G>T	9.37:g.99799653C>A	ENSP00000259470:p.Gly93Cys					CTSV_ENST00000538255.1_Missense_Mutation_p.G93C|CTSV_ENST00000479932.1_5'UTR	p.G93C	NM_001333.3	NP_001324.2					4	526	-								O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.277G>T	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513075	0.27123	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.23754	1.89;1.89	3.81	2.69	0.31865	.	0.089923	0.85682	D	0.000000	T	0.26666	0.0652	M	0.64080	1.96	0.31860	N	0.621044	B;B	0.33073	0.396;0.396	B;B	0.39068	0.289;0.289	T	0.22034	-1.0228	9	.	.	.	.	7.0341	0.24983	0.0:0.1164:0.0:0.8835	.	93;93	B2R717;O60911	.;CATL2_HUMAN	C	93	ENSP00000259470:G93C;ENSP00000445052:G93C	.	G	-	1	0	CTSL2	98839474	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	5.621000	0.67743	0.852000	0.35287	-0.367000	0.07326	GGT		0.413	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		58	398	1	0	1.53582e-20	1	1.72188e-20	58	398				
ILVBL	10994	broad.mit.edu	37	19	15226130	15226130	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15226130C>A	ENST00000263383.3	-	16	1971	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	611						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AACCGGGTGGCCGTCTCGGCA	0.637																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(1831-1833)gGc>gTc		ilvB (bacterial acetolactate synthase)-like							132.0	99.0	110.0					19																	15226130		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15226130C>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1832G>T	19.37:g.15226130C>A	ENSP00000263383:p.Gly611Val					ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	p.G611V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			16	1971	-			611					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.1832G>T	CCDS12325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940381|3.940381	0.73557|0.73557	.|.	.|.	ENSG00000105135|ENSG00000105135	ENST00000269733|ENST00000263383	.|T	.|0.48522	.|0.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.77545	.|0.4146	H|H	0.96080|0.96080	3.765|3.765	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.70227	.|0.968	.|D	.|0.84377	.|0.0547	.|10	.|0.66056	.|D	.|0.02	.|-28.1197	14.6173|14.6173	0.68558|0.68558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|611	.|A1L0T0	.|ILVBL_HUMAN	.|V	-1|611	.|ENSP00000263383:G611V	.|ENSP00000263383:G611V	.|G	-|-	.|2	.|0	ILVBL|ILVBL	15087130|15087130	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.611000|0.611000	0.37282|0.37282	7.211000|7.211000	0.77933|0.77933	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	.|GGC		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		83	367	1	0	2.36429e-26	1	2.72346e-26	83	367				
PAICS	10606	broad.mit.edu	37	4	57325556	57325556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325556T>C	ENST00000512576.1	+	9	1291	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	PAICS_ENST00000264221.2_Missense_Mutation_p.V377A|PAICS_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000514888.1_Missense_Mutation_p.V285A	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	377	AIR carboxylase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TGTTCAACCGTACTTTCTCCA	0.383																																					GBM(53;429 1144 8755 40726)	ENST00000514888.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5						c.(853-855)gTa>gCa		phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	L-Aspartic Acid(DB00128)						71.0	64.0	66.0					4																	57325556		1871	4110	5981	SO:0001583	missense	10606				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	g.chr4:57325556T>C	X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.1130T>C	4.37:g.57325556T>C	ENSP00000421096:p.Val377Ala					PAICS_ENST00000512576.1_Missense_Mutation_p.V377A|PAICS_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000264221.2_Missense_Mutation_p.V377A	p.V285A			P22234	PUR6_HUMAN			10	1369	+	Glioma(25;0.08)|all_neural(26;0.101)		377			AIR carboxylase.		E9PDH9|Q68CQ5	Missense_Mutation	SNP	ENST00000512576.1	37	c.854T>C	CCDS47061.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515929	0.44763	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.55413	0.52;0.55;0.56;0.53;0.55	5.05	5.05	0.67936	Phosphoribosylaminoimidazole carboxylase, core (4);	0.319515	0.37304	N	0.002152	T	0.53932	0.1827	M	0.77313	2.365	0.29385	N	0.863062	B;B;B	0.17038	0.02;0.009;0.02	B;B;B	0.27380	0.079;0.025;0.079	T	0.53795	-0.8388	10	0.36615	T	0.2	-11.3974	9.9633	0.41710	0.0:0.0867:0.0:0.9133	.	377;384;377	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	A	285;377;377;384;377	ENSP00000424907:V285A;ENSP00000264221:V377A;ENSP00000424053:V377A;ENSP00000382595:V384A;ENSP00000421096:V377A	ENSP00000264221:V377A	V	+	2	0	PAICS	57020313	0.966000	0.33281	0.990000	0.47175	0.988000	0.76386	5.608000	0.67654	2.036000	0.60181	0.477000	0.44152	GTA		0.383	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	NM_006452		18	109	0	0	0	1	0	18	109				
ACRV1	56	broad.mit.edu	37	11	125542528	125542528	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125542528A>C	ENST00000533904.1	-	4	1100	c.758T>G	c.(757-759)aTt>aGt	p.I253S	ACRV1_ENST00000315608.3_Missense_Mutation_p.I234S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S|ACRV1_ENST00000530048.1_Missense_Mutation_p.I198S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|ACRV1_ENST00000527795.1_Missense_Mutation_p.I183S			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	253					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		ACAGCATATAATTTGCATCCT	0.443																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(757-759)aTt>aGt		acrosomal vesicle protein 1							183.0	161.0	168.0					11																	125542528		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125542528A>C	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.758T>G	11.37:g.125542528A>C	ENSP00000432816:p.Ile253Ser					ACRV1_ENST00000433875.1_Missense_Mutation_p.I234S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|ACRV1_ENST00000257382.2_Missense_Mutation_p.I198S|ACRV1_ENST00000426183.1_Missense_Mutation_p.I183S|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S	p.I253S			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	4	1100	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	253					Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.758T>G	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.642964	0.67244	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000425431;ENST00000353070;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	4.26	4.26	0.50523	.	0.109289	0.40222	N	0.001156	T	0.43590	0.1254	M	0.64404	1.975	0.37751	D	0.925961	P;D;D;P;D;D;D;D;D	0.89917	0.929;0.999;1.0;0.95;1.0;0.976;0.98;0.984;0.959	P;D;D;P;D;P;P;P;P	0.69824	0.762;0.95;0.966;0.625;0.966;0.707;0.81;0.791;0.583	T	0.45041	-0.9288	10	0.48119	T	0.1	-3.8873	10.0696	0.42325	1.0:0.0:0.0:0.0	.	253;234;143;69;158;198;109;183;164	P26436;P26436-2;P26436-8;P26436-11;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.;.;.	S	253;234;198;183;164;158;153;143;109;69;234;198;183	ENSP00000432816:I253S;ENSP00000407846:I234S;ENSP00000257382:I198S;ENSP00000411583:I183S;ENSP00000397448:I164S;ENSP00000412653:I158S;ENSP00000257385:I153S;ENSP00000257383:I143S;ENSP00000395453:I109S;ENSP00000257386:I69S;ENSP00000317684:I234S;ENSP00000433720:I198S;ENSP00000436819:I183S	ENSP00000257382:I198S	I	-	2	0	ACRV1	125047738	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.646000	0.54396	2.151000	0.67156	0.523000	0.50628	ATT		0.443	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		105	494	0	0	0	1	0	105	494				
ALKBH6	84964	broad.mit.edu	37	19	36501912	36501912	+	Missense_Mutation	SNP	G	G	A	rs149341422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36501912G>A	ENST00000252984.7	-	6	372	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ALKBH6_ENST00000486389.1_Missense_Mutation_p.R51W|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W|ALKBH6_ENST00000495116.2_Intron|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000340477.5_5'Flank|SYNE4_ENST00000324444.3_5'Flank|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGCAGCCGCTCAGGAACC	0.597																																						ENST00000486389.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9						c.(151-153)Cgg>Tgg		alkB, alkylation repair homolog 6 (E. coli)		G	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	33.0	28.0	29.0		304,304	3.0	1.0	19	dbSNP_134	29	0,8600		0,0,4300	no	missense,missense	ALKBH6	NM_032878.3,NM_198867.1	101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	102/267,102/162	36501912	2,13004	2203	4300	6503	SO:0001583	missense	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36501912G>A	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.220C>T	19.37:g.36501912G>A	ENSP00000252984:p.Arg74Trp					ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W|ALKBH6_ENST00000252984.7_Missense_Mutation_p.R74W|AC002116.8_ENST00000473572.2_RNA	p.R51W			Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	899	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		74					A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37	c.151C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.068299	0.76301	4.54E-4	0.0	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.30448	1.53;1.53;1.53	5.25	2.96	0.34315	.	.	.	.	.	T	0.35219	0.0924	N	0.24115	0.695	0.30420	N	0.778241	D;D;D;D	0.76494	0.993;0.999;0.998;0.999	P;P;P;P	0.59948	0.533;0.866;0.849;0.825	T	0.27434	-1.0074	9	0.72032	D	0.01	.	10.652	0.45653	0.0:0.0:0.6546:0.3454	.	74;95;102;74	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	W	102;74;74;74	ENSP00000368152:R102W;ENSP00000436742:R74W;ENSP00000252984:R74W	ENSP00000252984:R74W	R	-	1	2	ALKBH6	41193752	0.061000	0.20836	0.980000	0.43619	0.994000	0.84299	1.723000	0.38053	1.169000	0.42739	0.591000	0.81541	CGG		0.597	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		34	94	0	0	0	1	0	34	94				
OR5D16	390144	broad.mit.edu	37	11	55606350	55606350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606350G>A	ENST00000378396.1	+	1	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTTCAGTGTGGTAGGGAATC	0.443																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(121-123)gtG>gtA		olfactory receptor, family 5, subfamily D, member 16							141.0	135.0	137.0					11																	55606350		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606350G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.123G>A	11.37:g.55606350G>A							p.V41V	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	123	+		all_epithelial(135;0.208)	41					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.123G>A	CCDS31512.1																																																																																				0.443	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		142	715	0	0	0	1	0	142	715				
EPSTI1	94240	broad.mit.edu	37	13	43500515	43500515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43500515C>T	ENST00000398762.3	-	7	613	c.614G>A	c.(613-615)aGt>aAt	p.S205N	EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000313640.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000476830.2_5'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	205										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTGACAGGCACTTCTGTCTGG	0.433																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(613-615)aGt>aAt		epithelial stromal interaction 1 (breast)							258.0	241.0	247.0					13																	43500515		2203	4300	6503	SO:0001583	missense	94240							g.chr13:43500515C>T	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.614G>A	13.37:g.43500515C>T	ENSP00000381746:p.Ser205Asn					EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000398762.3_Missense_Mutation_p.S205N	p.S205N	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	7	678	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	205					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.614G>A	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115810	0.56505	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762;ENST00000537828	T	0.22743	1.94	5.06	3.07	0.35406	.	0.587060	0.18288	N	0.145787	T	0.19604	0.0471	M	0.62723	1.935	0.09310	N	1	B;B	0.17667	0.01;0.023	B;B	0.20767	0.013;0.031	T	0.22068	-1.0227	10	0.26408	T	0.33	-1.067	6.3186	0.21204	0.0:0.6543:0.0:0.3457	.	205;205	Q96J88-2;Q96J88-3	.;.	N	205;205;205;78	ENSP00000318982:S205N	ENSP00000318643:S205N	S	-	2	0	EPSTI1	42398515	0.832000	0.29368	0.002000	0.10522	0.051000	0.14879	1.041000	0.30291	0.629000	0.30376	0.655000	0.94253	AGT		0.433	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		117	631	0	0	0	1	0	117	631				
TCAIM	285343	broad.mit.edu	37	3	44409153	44409153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44409153C>T	ENST00000342649.4	+	5	952	c.525C>T	c.(523-525)gaC>gaT	p.D175D	TCAIM_ENST00000417237.1_Silent_p.D175D	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	175						mitochondrion (GO:0005739)											GATTCAAGGACCCTGATGAAG	0.388																																						ENST00000342649.4																			0											c.(523-525)gaC>gaT		T cell activation inhibitor, mitochondrial							50.0	48.0	49.0					3																	44409153		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44409153C>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.525C>T	3.37:g.44409153C>T						TCAIM_ENST00000417237.1_Silent_p.D175D	p.D175D	NM_173826.3	NP_776187.2					5	952	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.525C>T	CCDS2712.1																																																																																				0.388	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		24	113	0	0	0	1	0	24	113				
RAD21	5885	broad.mit.edu	37	8	117864872	117864872	+	Silent	SNP	A	A	G	rs201779352	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864872A>G	ENST00000297338.2	-	10	1524	c.1237T>C	c.(1237-1239)Ttg>Ctg	p.L413L	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	413					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATTCATCCAAATTATCTGCC	0.398													A|||	2	0.000399361	0.0	0.0	5008	,	,		15732	0.002		0.0	False		,,,				2504	0.0					ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1237-1239)Ttg>Ctg		RAD21 homolog (S. pombe)							112.0	110.0	111.0					8																	117864872		2203	4300	6503	SO:0001819	synonymous_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117864872A>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1237T>C	8.37:g.117864872A>G							p.L413L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			10	1524	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		413					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.1237T>C	CCDS6321.1																																																																																				0.398	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		72	393	0	0	0	1	0	72	393				
PSMD12	5718	broad.mit.edu	37	17	65353435	65353435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65353435C>T	ENST00000356126.3	-	3	388	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	94					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TAACTGACTCCGCCTTTTGGA	0.358																																						ENST00000356126.3																			0				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13						c.(280-282)cGg>cAg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							69.0	68.0	69.0					17																	65353435		2203	4300	6503	SO:0001583	missense	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65353435C>T	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.281G>A	17.37:g.65353435C>T	ENSP00000348442:p.Arg94Gln					PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q|PSMD12_ENST00000581618.1_5'UTR	p.R94Q	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN			3	388	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		94					A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	c.281G>A	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233416	0.95207	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.43688	3.35;0.94	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.73678	-0.3907	10	0.54805	T	0.06	-13.7726	18.9241	0.92537	0.0:1.0:0.0:0.0	.	74;94	A6NP15;O00232	.;PSD12_HUMAN	Q	94;74	ENSP00000348442:R94Q;ENSP00000349667:R74Q	ENSP00000348442:R94Q	R	-	2	0	PSMD12	62783897	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.356000	0.79445	2.477000	0.83638	0.591000	0.81541	CGG		0.358	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		7	140	0	0	0	1	0	7	140				
CATSPER3	347732	broad.mit.edu	37	5	134344598	134344598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134344598C>T	ENST00000282611.6	+	5	829	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	248					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGCATTCACCATCATCTTC	0.537																																						ENST00000282611.6																			0				NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18						c.(742-744)aCc>aTc		cation channel, sperm associated 3							277.0	236.0	250.0					5																	134344598		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134344598C>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.743C>T	5.37:g.134344598C>T	ENSP00000282611:p.Thr248Ile						p.T248I	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	829	+			248					Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.743C>T	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050723	0.75960	.	.	ENSG00000152705	ENST00000282611	D	0.98345	-4.88	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.56097	D	0.000031	D	0.98118	0.9379	L	0.38175	1.15	0.41201	D	0.986372	D	0.89917	1.0	D	0.91635	0.999	D	0.99215	1.0877	10	0.59425	D	0.04	-43.0996	16.38	0.83452	0.0:1.0:0.0:0.0	.	248	Q86XQ3	CTSR3_HUMAN	I	248	ENSP00000282611:T248I	ENSP00000282611:T248I	T	+	2	0	CATSPER3	134372497	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.285000	0.51716	2.677000	0.91161	0.563000	0.77884	ACC		0.537	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		39	346	0	0	0	1	0	39	346				
PIGW	284098	broad.mit.edu	37	17	34894032	34894032	+	Missense_Mutation	SNP	T	T	C	rs551293655	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34894032T>C	ENST00000592983.1	+	2	1662	c.1082T>C	c.(1081-1083)gTa>gCa	p.V361A	PIGW_ENST00000328396.2_Missense_Mutation_p.V361A|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	361					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAGTAAATGTAGAAGCAGTA	0.348																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1081-1083)gTa>gCa		phosphatidylinositol glycan anchor biosynthesis, class W							75.0	71.0	72.0					17																	34894032		2203	4300	6503	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34894032T>C	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1082T>C	17.37:g.34894032T>C	ENSP00000468778:p.Val361Ala					PIGW_ENST00000328396.2_Missense_Mutation_p.V361A|MYO19_ENST00000590081.1_Intron	p.V361A			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1662	+		Breast(25;0.00957)|Ovarian(249;0.17)	361					Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.1082T>C	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079745	0.36662	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.49	5.49	0.81192	.	0.522372	0.19962	N	0.102182	T	0.35248	0.0925	L	0.33339	1.005	0.30931	N	0.726925	B	0.17667	0.023	B	0.21151	0.033	T	0.30707	-0.9969	8	.	.	.	-1.2408	9.4746	0.38864	0.0:0.0876:0.0:0.9124	.	361	Q7Z7B1	PIGW_HUMAN	A	361	.	.	V	+	2	0	PIGW	31968145	0.997000	0.39634	0.990000	0.47175	0.992000	0.81027	2.992000	0.49417	2.216000	0.71823	0.459000	0.35465	GTA		0.348	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		42	197	0	0	0	1	0	42	197				
NIPBL	25836	broad.mit.edu	37	5	37059079	37059079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37059079G>A	ENST00000282516.8	+	44	7996	c.7497G>A	c.(7495-7497)agG>agA	p.R2499R	NIPBL_ENST00000448238.2_Silent_p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2499					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGTTTCCAGGCCTCGGAAGT	0.378																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7495-7497)agG>agA		Nipped-B homolog (Drosophila)							121.0	123.0	122.0					5																	37059079		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37059079G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7497G>A	5.37:g.37059079G>A						NIPBL_ENST00000448238.2_Silent_p.R2499R	p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		44	7996	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2499					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.7497G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103346	0.20632	.	.	ENSG00000164190	ENST00000507919	.	.	.	5.85	0.934	0.19477	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41963	-0.9479	4	.	.	.	-10.4478	6.6505	0.22959	0.3878:0.1117:0.5005:0.0	.	.	.	.	D	5	.	.	G	+	2	0	NIPBL	37094836	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.177000	0.31969	0.098000	0.17522	-0.251000	0.11542	GGC		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		64	392	0	0	0	1	0	64	392				
MROH5	389690	broad.mit.edu	37	8	142488817	142488817	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142488817C>T	ENST00000430863.1	-	0	1224					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TGGCCGTATGCCAGGAGGATG	0.637																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							34.0	39.0	37.0					8																	142488817		2004	4175	6179			389690							g.chr8:142488817C>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142488817C>T								NM_207414.2	NP_997297.2					0	1224	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.637	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		11	68	0	0	0	1	0	11	68				
SYT13	57586	broad.mit.edu	37	11	45265679	45265679	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45265679G>T	ENST00000020926.3	-	6	1316	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	402					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCTGCGCTCAGAGCCCGAGGT	0.647																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(1204-1206)tCt>tAt		synaptotagmin XIII							63.0	65.0	64.0					11																	45265679		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45265679G>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1205C>A	11.37:g.45265679G>T	ENSP00000020926:p.Ser402Tyr						p.S402Y	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			6	1316	-			402					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.1205C>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618315	0.66787	.	.	ENSG00000019505	ENST00000020926	T	0.06933	3.24	5.54	5.54	0.83059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.313001	0.29286	N	0.012600	T	0.12518	0.0304	L	0.47190	1.495	0.36781	D	0.884328	B	0.33448	0.412	B	0.34722	0.188	T	0.06023	-1.0850	10	0.59425	D	0.04	.	19.4948	0.95067	0.0:0.0:1.0:0.0	.	402	Q7L8C5	SYT13_HUMAN	Y	402	ENSP00000020926:S402Y	ENSP00000020926:S402Y	S	-	2	0	SYT13	45222255	1.000000	0.71417	0.947000	0.38551	0.937000	0.57800	7.622000	0.83099	2.615000	0.88500	0.655000	0.94253	TCT		0.647	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		86	317	1	0	2.00703e-41	1	2.43794e-41	86	317				
CEP152	22995	broad.mit.edu	37	15	49030524	49030524	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49030524C>A	ENST00000380950.2	-	27	5242	c.5055G>T	c.(5053-5055)caG>caT	p.Q1685H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1685					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTGAAGGCTGCTGACACA	0.373																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(5053-5055)caG>caT		centrosomal protein 152kDa							124.0	116.0	119.0					15																	49030524		1875	4096	5971	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49030524C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5055G>T	15.37:g.49030524C>A	ENSP00000370337:p.Gln1685His					CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	p.Q1685H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	27	5242	-		all_lung(180;0.0428)	1629					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.5055G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923478	0.73213	.	.	ENSG00000103995	ENST00000399334	T	0.54675	0.56	4.76	3.85	0.44370	.	0.363112	0.20109	N	0.099049	T	0.41743	0.1172	L	0.27053	0.805	0.26648	N	0.972153	P	0.45827	0.867	P	0.44946	0.465	T	0.24119	-1.0169	10	0.46703	T	0.11	-0.917	8.8499	0.35192	0.0:0.7633:0.0:0.2367	.	1629	O94986	CE152_HUMAN	H	1629	ENSP00000382271:Q1629H	ENSP00000382271:Q1629H	Q	-	3	2	CEP152	46817816	0.014000	0.17966	0.403000	0.26384	0.717000	0.41224	0.208000	0.17415	1.231000	0.43661	0.563000	0.77884	CAG		0.373	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		42	332	1	0	3.09479e-21	1	3.48195e-21	42	332				
FZD1	8321	broad.mit.edu	37	7	90895309	90895309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895309G>A	ENST00000287934.2	+	1	1527	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	372					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTACATCGCCGGCTTCCTCCT	0.632																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1114-1116)Ggc>Agc		frizzled family receptor 1							69.0	70.0	70.0					7																	90895309		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895309G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1114G>A	7.37:g.90895309G>A	ENSP00000287934:p.Gly372Ser						p.G372S	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1527	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		372					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1114G>A	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524564	0.85600	.	.	ENSG00000157240	ENST00000287934	D	0.81996	-1.56	4.5	4.5	0.54988	GPCR, family 2-like (1);	0.080290	0.48286	D	0.000199	D	0.92221	0.7533	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92864	0.6308	10	0.46703	T	0.11	.	17.3733	0.87384	0.0:0.0:1.0:0.0	.	372	Q9UP38	FZD1_HUMAN	S	372	ENSP00000287934:G372S	ENSP00000287934:G372S	G	+	1	0	FZD1	90733245	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.729000	0.84864	2.327000	0.79052	0.407000	0.27541	GGC		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		23	532	0	0	0	1	0	23	532				
TRIP10	9322	broad.mit.edu	37	19	6751138	6751138	+	Missense_Mutation	SNP	A	A	C	rs3210156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751138A>C	ENST00000313244.9	+	15	1757	c.1722A>C	c.(1720-1722)aaA>aaC	p.K574N	TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N|TRIP10_ENST00000600428.1_Missense_Mutation_p.K410N|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	574	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGAAGACAAAGGGGACGGCT	0.617																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(1228-1230)aaA>aaC		thyroid hormone receptor interactor 10							62.0	70.0	67.0					19																	6751138		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6751138A>C	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1722A>C	19.37:g.6751138A>C	ENSP00000320117:p.Lys574Asn					CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N|TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|TRIP10_ENST00000313244.9_Missense_Mutation_p.K574N	p.K410N			Q15642	CIP4_HUMAN			14	1876	+			574			Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1230A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.93|17.93	3.508009|3.508009	0.64410|0.64410	.|.	.|.	ENSG00000125733|ENSG00000125733	ENST00000313285;ENST00000313244|ENST00000420690	T;T|.	0.45276|.	0.9;0.9|.	4.74|4.74	-0.401|-0.401	0.12407|0.12407	Src homology-3 domain (4);|.	0.270973|0.270973	0.36134|0.36134	N|N	0.002772|0.002772	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.31207|0.31207	0.915|0.915	0.50171|0.50171	D|D	0.999853|0.999853	D;D|P	0.89917|0.39250	0.991;1.0|0.665	D;D|B	0.91635|0.39805	0.991;0.999|0.31	T|T	0.17048|0.17048	-1.0382|-1.0382	10|9	0.87932|0.87932	D|D	0|0	-25.5666|-25.5666	8.7794|8.7794	0.34783|0.34783	0.6617:0.0:0.3383:0.0|0.6617:0.0:0.3383:0.0	.|.	574;518|528	Q15642;Q15642-2|G5E9U1	CIP4_HUMAN;.|.	N|T	518;574|528	ENSP00000320493:K518N;ENSP00000320117:K574N|.	ENSP00000320117:K574N|ENSP00000415493:K528T	K|K	+|+	3|2	2|0	TRIP10|TRIP10	6702138|6702138	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.957000|0.957000	0.61999|0.61999	0.858000|0.858000	0.27845|0.27845	-0.116000|-0.116000	0.11893|0.11893	0.254000|0.254000	0.18369|0.18369	AAA|AAG		0.617	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			107	511	0	0	0	1	0	107	511				
EXTL3	2137	broad.mit.edu	37	8	28575713	28575713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575713G>A	ENST00000220562.4	+	3	3039	c.2137G>A	c.(2137-2139)Gtc>Atc	p.V713I	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	713					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGACATTGGCGTCCCCATCAT	0.463																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(2137-2139)Gtc>Atc		exostosin-like glycosyltransferase 3							94.0	94.0	94.0					8																	28575713		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575713G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2137G>A	8.37:g.28575713G>A	ENSP00000220562:p.Val713Ile					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I	p.V713I	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	3039	+		Ovarian(32;0.069)	713					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.2137G>A	CCDS6070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.449679|2.449679	0.43531|0.43531	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000521473|ENST00000523149;ENST00000220562	.|D;D	.|0.86694	.|-2.16;-2.16	5.91|5.91	5.91|5.91	0.95273|0.95273	.|EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	.|0.065273	.|0.64402	.|D	.|0.000008	D|D	0.86797|0.86797	0.6019|0.6019	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.53312	.|0.959	.|P	.|0.44696	.|0.458	D|D	0.85714|0.85714	0.1321|0.1321	5|10	.|0.38643	.|T	.|0.18	-40.094|-40.094	20.2946|20.2946	0.98546|0.98546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|713	.|O43909	.|EXTL3_HUMAN	H|I	46|329;713	.|ENSP00000428691:V329I;ENSP00000220562:V713I	.|ENSP00000220562:V713I	R|V	+|+	2|1	0|0	EXTL3|EXTL3	28631632|28631632	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	6.074000|6.074000	0.71253|0.71253	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.463	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		82	317	0	0	0	1	0	82	317				
USP42	84132	broad.mit.edu	37	7	6196451	6196451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6196451G>T	ENST00000306177.5	+	16	3866	c.3708G>T	c.(3706-3708)aaG>aaT	p.K1236N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1236	Lys-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACAAAAAAAAGAAGAAGAAAA	0.463																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(3706-3708)aaG>aaT		ubiquitin specific peptidase 42							34.0	35.0	34.0					7																	6196451		2002	4206	6208	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6196451G>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3708G>T	7.37:g.6196451G>T	ENSP00000301962:p.Lys1236Asn						p.K1236N	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	16	3866	+		Ovarian(82;0.0423)	1236			Lys-rich.		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.3708G>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749452	0.69533	.	.	ENSG00000106346	ENST00000306177	T	0.37584	1.19	5.77	3.95	0.45737	.	0.000000	0.64402	D	0.000005	T	0.45458	0.1343	L	0.34521	1.04	0.30744	N	0.745851	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.48502	-0.9030	10	0.87932	D	0	.	8.7888	0.34837	0.242:0.0:0.758:0.0	.	1132;1236;1236	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	N	1236	ENSP00000301962:K1236N	ENSP00000301962:K1236N	K	+	3	2	USP42	6162976	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.228000	0.32588	0.783000	0.33636	-0.157000	0.13467	AAG		0.463	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		21	111	1	0	1.50039e-11	1	1.60151e-11	21	111				
ANKRD20A8P	729171	broad.mit.edu	37	2	95481343	95481343	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95481343C>T	ENST00000432432.2	-	0	2017					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTTGTGTTCTCTCTAAAGCAA	0.353																																						ENST00000432432.2																			0																																																			0							g.chr2:95481343C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95481343C>T								NR_040113.1						0	2017	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.353	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			119	377	0	0	0	1	0	119	377				
HSPA12B	116835	broad.mit.edu	37	20	3730865	3730865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3730865G>A	ENST00000254963.2	+	11	1437	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	431							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCGCTCTGCGCAGGAGCAGG	0.682																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1291-1293)cGc>cAc		heat shock 70kD protein 12B							14.0	16.0	15.0					20																	3730865		2195	4296	6491	SO:0001583	missense	116835						ATP binding	g.chr20:3730865G>A	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1292G>A	20.37:g.3730865G>A	ENSP00000254963:p.Arg431His					HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	p.R431H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			11	1437	+			431					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.1292G>A	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012551	0.93346	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.47528	1.42;0.84;0.84	5.66	4.71	0.59529	.	0.168975	0.47093	N	0.000248	T	0.65386	0.2686	M	0.72479	2.2	0.53688	D	0.999979	D;D	0.89917	0.996;1.0	D;D	0.72982	0.921;0.979	T	0.67106	-0.5754	10	0.51188	T	0.08	-3.7254	12.2752	0.54730	0.0826:0.0:0.9174:0.0	.	430;431	B7ZLP2;Q96MM6	.;HS12B_HUMAN	H	431;265;345	ENSP00000254963:R431H;ENSP00000441506:R265H;ENSP00000382608:R345H	ENSP00000254963:R431H	R	+	2	0	HSPA12B	3678865	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.137000	0.50562	1.374000	0.46228	0.563000	0.77884	CGC		0.682	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		22	78	0	0	0	1	0	22	78				
CDRT4	284040	broad.mit.edu	37	17	15341153	15341153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341153G>T	ENST00000312177.6	-	4	673	c.393C>A	c.(391-393)aaC>aaA	p.N131K	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	131										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TCTTGTTATAGTTTTCAGTTG	0.478																																						ENST00000312177.6																			0				endometrium(3)|skin(1)	4						c.(391-393)aaC>aaA		CMT1A duplicated region transcript 4							132.0	113.0	119.0					17																	15341153		2203	4300	6503	SO:0001583	missense	284040							g.chr17:15341153G>T	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.393C>A	17.37:g.15341153G>T	ENSP00000310031:p.Asn131Lys					TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	p.N131K	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)	4	673	-			131					A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	37	c.393C>A		.	.	.	.	.	.	.	.	.	.	G	15.21	2.764707	0.49574	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.33438	1.41	4.98	1.66	0.24008	.	0.729990	0.12744	N	0.442764	T	0.25754	0.0627	L	0.56769	1.78	0.09310	N	0.999999	B	0.27882	0.192	B	0.25759	0.063	T	0.28459	-1.0043	10	0.62326	D	0.03	-3.0843	3.8536	0.08965	0.2239:0.2043:0.5718:0.0	.	131	Q8N9R6	CDRT4_HUMAN	K	132;131	ENSP00000310031:N131K	ENSP00000310031:N131K	N	-	3	2	CDRT4	15281878	0.391000	0.25221	0.029000	0.17559	0.701000	0.40568	1.313000	0.33585	0.665000	0.31066	0.650000	0.86243	AAC		0.478	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		61	228	1	0	4.45325e-31	1	5.23636e-31	61	228				
FER1L6	654463	broad.mit.edu	37	8	125047562	125047562	+	Silent	SNP	C	C	T	rs199510818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125047562C>T	ENST00000522917.1	+	19	2537	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	777						integral component of membrane (GO:0016021)		p.V777V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCAAAAGTCGACGTGTACC	0.498																																						ENST00000522917.1																			1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2329-2331)gtC>gtT		fer-1-like 6 (C. elegans)							98.0	98.0	98.0					8																	125047562		1948	4153	6101	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125047562C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2331C>T	8.37:g.125047562C>T						FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V	p.V777V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		19	2537	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		777						Silent	SNP	ENST00000522917.1	37	c.2331C>T	CCDS43767.1																																																																																				0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		28	405	0	0	0	1	0	28	405				
ABTB2	25841	broad.mit.edu	37	11	34181856	34181856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34181856G>T	ENST00000435224.2	-	12	2866	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	814					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCTGCCATAGCAGTGGGTGA	0.642																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2440-2442)tgC>tgA		ankyrin repeat and BTB (POZ) domain containing 2							90.0	88.0	88.0					11																	34181856		2202	4298	6500	SO:0001587	stop_gained	25841						DNA binding	g.chr11:34181856G>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2442C>A	11.37:g.34181856G>T	ENSP00000410157:p.Cys814*					ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	p.C814*	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			12	2866	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	628					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Nonsense_Mutation	SNP	ENST00000435224.2	37	c.2442C>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	43	10.293582	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6005	18.4941	0.90858	0.0:0.0:1.0:0.0	.	.	.	.	X	814;628	.	ENSP00000298992:C628X	C	-	3	2	ABTB2	34138432	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.740000	0.62087	2.370000	0.80446	0.561000	0.74099	TGC		0.642	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		43	190	1	0	2.24893e-16	1	2.47056e-16	43	190				
IFT52	51098	broad.mit.edu	37	20	42233661	42233661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42233661G>A	ENST00000373030.3	+	6	563	c.433G>A	c.(433-435)Gga>Aga	p.G145R	IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	145					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGAGCTGCAGGAAAGGCTGT	0.388																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(433-435)Gga>Aga		intraflagellar transport 52 homolog (Chlamydomonas)							98.0	99.0	99.0					20																	42233661		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42233661G>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.433G>A	20.37:g.42233661G>A	ENSP00000362121:p.Gly145Arg					IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	p.G145R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		6	563	+		Myeloproliferative disorder(115;0.00452)	145					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.433G>A	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012953	0.54468	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.99	4.99	0.66335	.	0.049267	0.85682	D	0.000000	T	0.62368	0.2422	M	0.66506	2.035	0.80722	D	1	P	0.34934	0.476	B	0.33890	0.172	T	0.65957	-0.6042	9	0.48119	T	0.1	-7.7292	17.4356	0.87550	0.0:0.0:1.0:0.0	.	145	Q9Y366	IFT52_HUMAN	R	145	.	ENSP00000362121:G145R	G	+	1	0	IFT52	41667075	1.000000	0.71417	0.994000	0.49952	0.569000	0.35902	7.176000	0.77643	2.480000	0.83734	0.561000	0.74099	GGA		0.388	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		34	175	0	0	0	1	0	34	175				
CCDC7	79741	broad.mit.edu	37	10	32978017	32978017	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32978017G>T	ENST00000375030.2	+	8	833	c.215G>T	c.(214-216)aGg>aTg	p.R72M	C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M|C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M			Q9H943	CJ068_HUMAN		64										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CTTATACTTAGGCATCAAGAC	0.299																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(214-216)aGg>aTg		chromosome 10 open reading frame 68							58.0	61.0	60.0					10																	32978017		2203	4296	6499	SO:0001583	missense	79741							g.chr10:32978017G>T																												ENST00000375030.2:c.215G>T	10.37:g.32978017G>T	ENSP00000364170:p.Arg72Met					C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M|C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M	p.R72M			Q9H943	CJ068_HUMAN			8	833	+			64					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.215G>T		.	.	.	.	.	.	.	.	.	.	.	10.87	1.471352	0.26423	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.33865	1.43;1.39;1.7;1.41	3.42	-0.376	0.12505	.	.	.	.	.	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	1	B;B;P	0.35411	0.282;0.282;0.5	B;B;B	0.34931	0.126;0.126;0.192	T	0.17410	-1.0370	9	0.54805	T	0.06	.	3.1615	0.06522	0.5187:0.2197:0.2616:0.0	.	64;78;72	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	M	64;72;78;64;50	ENSP00000303710:R64M;ENSP00000364170:R72M;ENSP00000364168:R78M;ENSP00000364165:R64M	ENSP00000303710:R64M	R	+	2	0	C10orf68	33018023	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.508000	0.06344	-0.078000	0.12730	-0.350000	0.07774	AGG		0.299	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			33	142	1	0	5.8336e-16	1	6.39204e-16	33	142				
ESCO1	114799	broad.mit.edu	37	18	19147945	19147945	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19147945A>C	ENST00000269214.5	-	5	2578	c.1641T>G	c.(1639-1641)ttT>ttG	p.F547L		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	547					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTACCTGGAAATTTATTCT	0.328																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1639-1641)ttT>ttG		establishment of sister chromatid cohesion N-acetyltransferase 1							72.0	72.0	72.0					18																	19147945		2202	4300	6502	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19147945A>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1641T>G	18.37:g.19147945A>C	ENSP00000269214:p.Phe547Leu						p.F547L	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			5	2578	-			547					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.1641T>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055098	0.36277	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57436	0.4;1.96	5.6	5.6	0.85130	.	0.289111	0.30695	N	0.009075	T	0.46580	0.1400	L	0.57536	1.79	0.31686	N	0.642527	B	0.06786	0.001	B	0.04013	0.001	T	0.50524	-0.8818	10	0.24483	T	0.36	-5.9452	10.3972	0.44207	0.8546:0.0:0.0:0.1454	.	547	Q5FWF5	ESCO1_HUMAN	L	547	ENSP00000269214:F547L;ENSP00000372763:F547L	ENSP00000269214:F547L	F	-	3	2	ESCO1	17401943	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.733000	0.47360	2.260000	0.74910	0.528000	0.53228	TTT		0.328	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		85	298	0	0	0	1	0	85	298				
IRS4	8471	broad.mit.edu	37	X	107979287	107979287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979287G>A	ENST00000372129.2	-	1	364	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	96	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGAGCACGAAGTAGCGCC	0.627																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(286-288)ttC>ttT		insulin receptor substrate 4							70.0	58.0	62.0					X																	107979287		2200	4298	6498	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979287G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.288C>T	X.37:g.107979287G>A							p.F96F	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	364	-			96			PH.			Silent	SNP	ENST00000372129.2	37	c.288C>T	CCDS14544.1																																																																																				0.627	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		24	652	0	0	0	1	0	24	652				
RFTN1	23180	broad.mit.edu	37	3	16450991	16450991	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450991C>A	ENST00000334133.4	-	4	605		c.e4-1		RFTN1_ENST00000432519.1_Splice_Site	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1						B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTTCTGAGATCTGAAGAGAAA	0.438																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.e4-1		raftlin, lipid raft linker 1							100.0	95.0	97.0					3																	16450991		2203	4300	6503	SO:0001630	splice_region_variant	23180					plasma membrane		g.chr3:16450991C>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.333-1G>T	3.37:g.16450991C>A						RFTN1_ENST00000432519.1_Splice_Site		NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			4	605	-								Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Splice_Site	SNP	ENST00000334133.4	37		CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488476	0.44249	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1773	0.72924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFTN1	16425995	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	4.084000	0.57650	2.656000	0.90262	0.655000	0.94253	.		0.438	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	Intron	53	222	1	0	1.21353e-23	1	1.38083e-23	53	222				
ODAM	54959	broad.mit.edu	37	4	71066290	71066290	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71066290A>G	ENST00000396094.2	+	6	548	c.500A>G	c.(499-501)cAa>cGa	p.Q167R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	167	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCACCTCAACAAACAAGACAG	0.373																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(499-501)cAa>cGa		odontogenic, ameloblast asssociated							110.0	95.0	100.0					4																	71066290		2203	4300	6503	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71066290A>G	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.500A>G	4.37:g.71066290A>G	ENSP00000379401:p.Gln167Arg						p.Q167R	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			6	548	+			167			Gln-rich.		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.500A>G	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308310	0.40895	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.50277	0.75;0.75	5.22	1.05	0.20165	.	0.525126	0.16190	N	0.225453	T	0.33323	0.0859	L	0.50333	1.59	0.09310	N	1	B	0.25390	0.125	B	0.20955	0.032	T	0.19031	-1.0318	10	0.38643	T	0.18	0.1088	2.0449	0.03558	0.5865:0.1654:0.089:0.1591	.	167	A1E959	ODAM_HUMAN	R	167;153;120	ENSP00000379401:Q167R;ENSP00000426106:Q120R	ENSP00000379401:Q167R	Q	+	2	0	ODAM	71100879	0.545000	0.26449	0.034000	0.17996	0.002000	0.02628	1.020000	0.30027	0.406000	0.25560	-0.290000	0.09829	CAA		0.373	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		31	109	0	0	0	1	0	31	109				
MYH1	4619	broad.mit.edu	37	17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R445L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGTTGATGCGGGTGACCAT	0.463																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.R445L(1)	endometrium(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1333-1335)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							246.0	225.0	232.0					17																	10415238		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415238C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1334G>A	17.37:g.10415238C>T	ENSP00000226207:p.Arg445His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R445H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			14	1428	-			445			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1334G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270913	0.95429	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88741	-2.42	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000487	D	0.95762	0.8621	M	0.90425	3.115	0.58432	D	0.999998	D	0.69078	0.997	D	0.72625	0.978	D	0.95814	0.8844	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	445	P12882	MYH1_HUMAN	H	445	ENSP00000226207:R445H	ENSP00000226207:R445H	R	-	2	0	MYH1	10355963	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	2.861000	0.98227	0.655000	0.94253	CGC		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		242	968	0	0	0	1	0	242	968				
KDM4E	390245	broad.mit.edu	37	11	94759017	94759017	+	Missense_Mutation	SNP	G	G	A	rs568507965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94759017G>A	ENST00000450979.2	+	1	596	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	99					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGGCAGTATCGCCGCTTGGCA	0.488																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(295-297)cGc>cAc		lysine (K)-specific demethylase 4E							19.0	18.0	18.0					11																	94759017		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759017G>A	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.296G>A	11.37:g.94759017G>A	ENSP00000397239:p.Arg99His						p.R99H	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	596	+			99						Missense_Mutation	SNP	ENST00000450979.2	37	c.296G>A	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	g	4.232	0.041936	0.08196	.	.	ENSG00000235268	ENST00000450979	T	0.50001	0.76	2.18	0.246	0.15516	.	.	.	.	.	T	0.39279	0.1072	M	0.68593	2.085	0.28819	N	0.897821	B	0.29886	0.26	B	0.13407	0.009	T	0.31971	-0.9924	9	0.52906	T	0.07	-1.5164	6.3681	0.21465	0.2819:0.0:0.7181:0.0	.	99	B2RXH2	KD4DL_HUMAN	H	99	ENSP00000397239:R99H	ENSP00000397239:R99H	R	+	2	0	KDM4DL	94398665	0.594000	0.26849	0.022000	0.16811	0.008000	0.06430	3.686000	0.54685	0.070000	0.16634	-0.380000	0.06706	CGC		0.488	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		33	82	0	0	0	1	0	33	82				
FAM208B	54906	broad.mit.edu	37	10	5788692	5788692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788692G>A	ENST00000328090.5	+	15	3933	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1103																	GAAAATGCACGAACACAAGGC	0.463																																						ENST00000328090.5																			0											c.(3307-3309)cGa>cAa		family with sequence similarity 208, member B							129.0	123.0	125.0					10																	5788692		2008	4181	6189	SO:0001583	missense	54906							g.chr10:5788692G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3308G>A	10.37:g.5788692G>A	ENSP00000328426:p.Arg1103Gln						p.R1103Q	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	3933	+			1103					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.3308G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.972136	0.00457	.	.	ENSG00000108021	ENST00000328090	T	0.15372	2.43	5.46	4.31	0.51392	.	0.000000	0.50627	N	0.000113	T	0.03095	0.0091	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.02654	T	1	.	5.7819	0.18312	0.7446:0.1686:0.0868:0.0	.	1103	Q5VWN6	F208B_HUMAN	Q	1103	ENSP00000328426:R1103Q	ENSP00000328426:R1103Q	R	+	2	0	C10orf18	5828698	0.127000	0.22367	0.001000	0.08648	0.000000	0.00434	2.604000	0.46274	0.357000	0.24183	-1.460000	0.01027	CGA		0.463	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		21	520	0	0	0	1	0	21	520				
CACNA1C	775	broad.mit.edu	37	12	2775934	2775934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2775934C>T	ENST00000347598.4	+	39	4753	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C	CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1585					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCCCTCACCGCGTGGCTTG	0.537																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4609-4611)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						36.0	38.0	37.0					12																	2775934		1946	4150	6096	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2775934C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4753C>T	12.37:g.2775934C>T	ENSP00000266376:p.Arg1585Cys					CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1585C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C	p.R1537C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	37	4874	+			1585			Dihydropyridine binding (By similarity).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4609C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774214	0.69992	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97138	-4.19;-4.18;-4.19;-4.2;-4.18;-4.22;-4.11;-4.15;-4.19;-4.13;-4.12;-4.19;-4.25;-4.12;-4.02;-4.26;-4.21;-4.18;-4.2;-4.12;-4.19;-4.26	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.999;0.997;0.999;0.998;0.999;0.999;0.999;0.999;0.998;0.99;0.999;0.993;0.998;0.995;0.999;0.999;0.998;0.998;0.999;0.999;0.999;0.998	D	0.99651	1.0991	10	0.87932	D	0	.	17.492	0.87707	0.0:1.0:0.0:0.0	.	228;1559;1534;1585;1537;1537;1537;1554;1565;1537;1557;1537;1497;1585;1537;1537;1537;1526;1524;1526;1526;1537;1537;1537;1537	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1562;1537;1537;1565;1537;1537;1537;1526;1537;1585;1557;1537;1559;1554;1537;1524;1537;1537;1537;1537;1537;1526;1367	ENSP00000336982:R1562C;ENSP00000382563:R1537C;ENSP00000382552:R1537C;ENSP00000382547:R1565C;ENSP00000382506:R1537C;ENSP00000382530:R1537C;ENSP00000382546:R1537C;ENSP00000382500:R1526C;ENSP00000382549:R1537C;ENSP00000266376:R1585C;ENSP00000382515:R1557C;ENSP00000382510:R1537C;ENSP00000341092:R1559C;ENSP00000382537:R1554C;ENSP00000329877:R1537C;ENSP00000382557:R1524C;ENSP00000385724:R1537C;ENSP00000382512:R1537C;ENSP00000382542:R1537C;ENSP00000382526:R1537C;ENSP00000385896:R1537C;ENSP00000382504:R1526C	ENSP00000323129:R1367C	R	+	1	0	CACNA1C	2646195	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.161000	0.42358	2.429000	0.82318	0.655000	0.94253	CGC		0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		13	51	0	0	0	1	0	13	51				
ZBTB1	22890	broad.mit.edu	37	14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64988779C>T	ENST00000554015.1	+	4	988	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_ENST00000358738.3_Missense_Mutation_p.P186L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413																																						ENST00000358738.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(556-558)cCt>cTt		zinc finger and BTB domain containing 1							69.0	73.0	71.0					14																	64988779		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988779C>T	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.557C>T	14.37:g.64988779C>T	ENSP00000451000:p.Pro186Leu					RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Missense_Mutation_p.P186L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L	p.P186L	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	2	948	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	186					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.557C>T	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10099	2.91;3.47;2.91	6.17	6.17	0.99709	.	0.269330	0.32819	N	0.005619	T	0.10723	0.0262	N	0.24115	0.695	0.51767	D	0.999933	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.016	T	0.09796	-1.0658	10	0.66056	D	0.02	-15.2061	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	186;186	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	186	ENSP00000451000:P186L;ENSP00000351587:P186L;ENSP00000378201:P186L	ENSP00000351587:P186L	P	+	2	0	ZBTB1	64058532	0.771000	0.28555	0.986000	0.45419	0.995000	0.86356	1.362000	0.34148	2.941000	0.99782	0.655000	0.94253	CCT		0.413	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			92	329	0	0	0	1	0	92	329				
MSL1	339287	broad.mit.edu	37	17	38289356	38289356	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38289356G>T	ENST00000398532.4	+	6	1865	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	517	Interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAGAAGAGAAGGAAAAGGTGA	0.478																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(1549-1551)aGg>aTg		male-specific lethal 1 homolog (Drosophila)							69.0	71.0	70.0					17																	38289356		1969	4164	6133	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38289356G>T		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1550G>T	17.37:g.38289356G>T	ENSP00000381543:p.Arg517Met					MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M	p.R517M			Q68DK7	MSL1_HUMAN			6	1865	+			517					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.1550G>T		.	.	.	.	.	.	.	.	.	.	G	16.69	3.193403	0.58017	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.62639	0.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.63843	1.955	0.80722	D	1	.	.	.	.	.	.	T	0.74765	-0.3554	8	0.54805	T	0.06	-1.7679	18.5758	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	M	254;517	ENSP00000381543:R517M	ENSP00000341409:R254M	R	+	2	0	MSL1	35542882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.458000	0.97634	2.683000	0.91414	0.655000	0.94253	AGG		0.478	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		12	36	1	0	1.5842e-08	1	1.65642e-08	12	36				
SLC9A1	6548	broad.mit.edu	37	1	27427125	27427125	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27427125G>T	ENST00000263980.3	-	12	2696	c.2121C>A	c.(2119-2121)gcC>gcA	p.A707A	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Silent_p.A368A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	707					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCGGCTCATAGGCCAGTGGGT	0.642																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2119-2121)gcC>gcA		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						110.0	110.0	110.0					1																	27427125		2203	4300	6503	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27427125G>T	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2121C>A	1.37:g.27427125G>T						SLC9A1_ENST00000545949.1_Silent_p.A368A	p.A707A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2696	-			707					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.2121C>A	CCDS295.1																																																																																				0.642	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		105	826	1	0	1.32035e-51	1	1.6395e-51	105	826				
CENPB	1059	broad.mit.edu	37	20	3766779	3766779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3766779C>T	ENST00000379751.4	-	1	558	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	118	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCGTTGGAGGCGGTGAAGTCG	0.731																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(352-354)Gcc>Acc		centromere protein B, 80kDa							34.0	40.0	38.0					20																	3766779		2202	4296	6498	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766779C>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.352G>A	20.37:g.3766779C>T	ENSP00000369075:p.Ala118Thr						p.A118T	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	558	-			118			HTH CENPB-type.		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.352G>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	19.84	3.902606	0.72754	.	.	ENSG00000125817	ENST00000379751	T	0.27104	1.69	3.34	2.36	0.29203	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.249803	0.20833	U	0.084857	T	0.50701	0.1631	M	0.85945	2.785	0.33894	D	0.637715	D	0.89917	1.0	D	0.78314	0.991	T	0.63242	-0.6681	10	0.49607	T	0.09	-8.036	10.2481	0.43354	0.0:0.7966:0.2034:0.0	.	118	P07199	CENPB_HUMAN	T	118	ENSP00000369075:A118T	ENSP00000369075:A118T	A	-	1	0	CENPB	3714779	0.992000	0.36948	0.988000	0.46212	0.771000	0.43674	1.268000	0.33062	0.367000	0.24454	0.197000	0.17608	GCC		0.731	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		87	360	0	0	0	1	0	87	360				
TMEM168	64418	broad.mit.edu	37	7	112424589	112424589	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112424589A>G	ENST00000312814.6	-	2	852	c.292T>C	c.(292-294)Tgg>Cgg	p.W98R	TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	98						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATCCAAACCAAAGATTGGAG	0.323																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(292-294)Tgg>Cgg		transmembrane protein 168							74.0	77.0	76.0					7																	112424589		2203	4299	6502	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424589A>G		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.292T>C	7.37:g.112424589A>G	ENSP00000323068:p.Trp98Arg					TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	p.W98R	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	852	-			98					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.292T>C	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101989	0.56183	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	L	0.58101	1.795	0.80722	D	1	D	0.58268	0.982	P	0.55545	0.778	T	0.71397	-0.4605	9	0.72032	D	0.01	-11.3609	16.6245	0.84952	1.0:0.0:0.0:0.0	.	98	Q9H0V1	TM168_HUMAN	R	98	.	ENSP00000323068:W98R	W	-	1	0	TMEM168	112211825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.517000	0.81783	2.323000	0.78572	0.528000	0.53228	TGG		0.323	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		34	192	0	0	0	1	0	34	192				
GPR116	221395	broad.mit.edu	37	6	46851895	46851895	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46851895C>A	ENST00000283296.7	-	5	730	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	GPR116_ENST00000265417.7_Missense_Mutation_p.G148W|GPR116_ENST00000362015.4_Missense_Mutation_p.G148W|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.G148W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	148					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAATGGTGCCCTGGGAGGAAG	0.493																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(442-444)Ggg>Tgg		G protein-coupled receptor 116							143.0	124.0	131.0					6																	46851895		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46851895C>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.442G>T	6.37:g.46851895C>A	ENSP00000283296:p.Gly148Trp					GPR116_ENST00000362015.4_Missense_Mutation_p.G148W|GPR116_ENST00000456426.2_Missense_Mutation_p.G148W|GPR116_ENST00000265417.7_Missense_Mutation_p.G148W	p.G148W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		5	730	-			148					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.442G>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571997	0.45798	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.30981	1.52;1.91;1.51;1.52	5.17	5.17	0.71159	.	0.367868	0.24549	N	0.037572	T	0.45915	0.1366	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.985;0.995;0.985	T	0.45175	-0.9279	10	0.87932	D	0	-11.1153	14.5188	0.67838	0.0:1.0:0.0:0.0	.	148;148;148	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	W	148	ENSP00000283296:G148W;ENSP00000354563:G148W;ENSP00000412866:G148W;ENSP00000265417:G148W	ENSP00000265417:G148W	G	-	1	0	GPR116	46959854	0.979000	0.34478	0.920000	0.36463	0.148000	0.21650	2.084000	0.41625	2.572000	0.86782	0.655000	0.94253	GGG		0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		26	517	1	0	9.86323e-18	1	1.09066e-17	26	517				
ZSWIM2	151112	broad.mit.edu	37	2	187694554	187694554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187694554G>A	ENST00000295131.2	-	8	1034	c.995C>T	c.(994-996)aCt>aTt	p.T332I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	332					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTATTCTTAGTAATCAGTTG	0.388																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(994-996)aCt>aTt		zinc finger, SWIM-type containing 2							195.0	183.0	187.0					2																	187694554		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187694554G>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.995C>T	2.37:g.187694554G>A	ENSP00000295131:p.Thr332Ile						p.T332I	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	1034	-			332					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.995C>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717424	0.68844	.	.	ENSG00000163012	ENST00000295131	T	0.67523	-0.27	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000026	T	0.71710	0.3372	L	0.47190	1.495	0.34588	D	0.715199	D	0.67145	0.996	P	0.56612	0.802	T	0.79766	-0.1665	10	0.72032	D	0.01	-15.1682	13.4258	0.61024	0.0:0.1572:0.8428:0.0	.	332	Q8NEG5	ZSWM2_HUMAN	I	332	ENSP00000295131:T332I	ENSP00000295131:T332I	T	-	2	0	ZSWIM2	187402799	1.000000	0.71417	0.620000	0.29132	0.859000	0.49053	4.432000	0.59922	2.873000	0.98535	0.563000	0.77884	ACT		0.388	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		108	472	0	0	0	1	0	108	472				
SLC2A12	154091	broad.mit.edu	37	6	134350298	134350298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134350298C>T	ENST00000275230.5	-	2	820	c.665G>A	c.(664-666)cGg>cAg	p.R222Q		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	222					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CACCAGAAACCGAGGGCTTGG	0.448																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(664-666)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 12							76.0	78.0	78.0					6																	134350298		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350298C>T	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.665G>A	6.37:g.134350298C>T	ENSP00000275230:p.Arg222Gln						p.R222Q	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	820	-	Breast(56;0.214)|Colorectal(23;0.221)		222					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.665G>A	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720699	0.89205	.	.	ENSG00000146411	ENST00000275230	T	0.79653	-1.29	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93615	0.6942	10	0.87932	D	0	-14.6014	19.174	0.93594	0.0:1.0:0.0:0.0	.	222	Q8TD20	GTR12_HUMAN	Q	222	ENSP00000275230:R222Q	ENSP00000275230:R222Q	R	-	2	0	SLC2A12	134391991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.542000	0.85734	0.467000	0.42956	CGG		0.448	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			8	442	0	0	0	1	0	8	442				
DBN1	1627	broad.mit.edu	37	5	176885542	176885542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176885542G>A	ENST00000309007.5	-	12	1512	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	DBN1_ENST00000292385.5_Silent_p.V433V|DBN1_ENST00000393563.4_Silent_p.V163V|DBN1_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000393565.1_Silent_p.V477V	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	431					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAGCCAGGACAGCCTGCT	0.647																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1297-1299)gtC>gtT		drebrin 1							67.0	80.0	76.0					5																	176885542		2203	4300	6503	SO:0001819	synonymous_variant	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176885542G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1293C>T	5.37:g.176885542G>A						DBN1_ENST00000393563.4_Silent_p.V163V|DBN1_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000309007.5_Silent_p.V431V|DBN1_ENST00000393565.1_Silent_p.V477V	p.V433V	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1908	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	431					A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	c.1299C>T	CCDS4420.1																																																																																				0.647	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		64	384	0	0	0	1	0	64	384				
GNRH1	2796	broad.mit.edu	37	8	25280756	25280756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25280756G>A	ENST00000276414.4	-	1	1414	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	GNRH1_ENST00000421054.2_Missense_Mutation_p.R31C|RP11-395I14.2_ENST00000523840.1_lincRNA	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	31			R -> C (in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1). {ECO:0000269|PubMed:23643382}.		cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|ovulation cycle (GO:0042698)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|response to corticosteroid (GO:0031960)|response to ethanol (GO:0045471)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	gonadotropin hormone-releasing hormone activity (GO:0005183)|hormone activity (GO:0005179)			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		CCTCCAGGGCGCAGTCCATAG	0.433																																						ENST00000276414.4																			0				large_intestine(1)	1						c.(91-93)Cgc>Tgc		gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)							100.0	101.0	100.0					8																	25280756		1866	4101	5967	SO:0001583	missense	2796				cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity	g.chr8:25280756G>A	X01059	CCDS43725.1	8p21-p11.2	2013-02-26	2004-10-13		ENSG00000147437	ENSG00000147437		"""Endogenous ligands"""	4419	protein-coding gene	gene with protein product		152760	"""gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)"""	GRH, GNRH, LHRH		6090951	Standard	NM_000825		Approved		uc003xem.4	P01148	OTTHUMG00000163852	ENST00000276414.4:c.91C>T	8.37:g.25280756G>A	ENSP00000276414:p.Arg31Cys					GNRH1_ENST00000421054.2_Missense_Mutation_p.R31C	p.R31C	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)	1	1414	-		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)	31					A0AVP0	Missense_Mutation	SNP	ENST00000276414.4	37	c.91C>T	CCDS43725.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757146	0.49468	.	.	ENSG00000147437	ENST00000421054;ENST00000276414	T;T	0.48836	0.8;0.8	5.18	5.18	0.71444	Gonadotropin-releasing hormone (2);	0.179711	0.39210	N	0.001430	T	0.70168	0.3193	.	.	.	0.51482	D	0.999924	D	0.89917	1.0	D	0.73380	0.98	T	0.73855	-0.3851	9	0.87932	D	0	-20.4773	17.8458	0.88730	0.0:0.0:1.0:0.0	.	31	P01148	GON1_HUMAN	C	31	ENSP00000391280:R31C;ENSP00000276414:R31C	ENSP00000276414:R31C	R	-	1	0	GNRH1	25336673	1.000000	0.71417	0.983000	0.44433	0.001000	0.01503	5.208000	0.65203	2.686000	0.91538	0.655000	0.94253	CGC		0.433	GNRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375982.1	NM_001083111		17	498	0	0	0	1	0	17	498				
PCDHB6	56130	broad.mit.edu	37	5	140530394	140530394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140530394G>A	ENST00000231136.1	+	1	556	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E50K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCGCAGCGAAGGCAGGAA	0.582																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(556-558)Gaa>Aaa									115.0	120.0	118.0					5																	140530394		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530394G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.556G>A	5.37:g.140530394G>A	ENSP00000231136:p.Glu186Lys					PCDHB6_ENST00000543635.1_Missense_Mutation_p.E50K	p.E186K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	556	+			186			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.556G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870450	0.51588	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.69561	-0.41;2.11	4.7	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66197	0.2765	M	0.62016	1.91	0.20563	N	0.999889	B	0.15473	0.013	B	0.21917	0.037	T	0.61501	-0.7050	9	0.87932	D	0	.	13.4005	0.60881	0.0794:0.0:0.9206:0.0	.	186	Q9Y5E3	PCDB6_HUMAN	K	50;186	ENSP00000438466:E50K;ENSP00000231136:E186K	ENSP00000231136:E186K	E	+	1	0	PCDHB6	140510578	0.008000	0.16893	0.785000	0.31869	0.968000	0.65278	0.624000	0.24462	2.316000	0.78162	0.561000	0.74099	GAA		0.582	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		14	947	0	0	0	1	0	14	947				
MAPK4	5596	broad.mit.edu	37	18	48255532	48255532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255532C>T	ENST00000400384.2	+	6	2108	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	MAPK4_ENST00000540640.1_Missense_Mutation_p.P147S|MAPK4_ENST00000592595.1_Silent_p.T232T	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	358					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTGCAGGTACCCTGTGAGCCT	0.652																																						ENST00000400384.2																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(1072-1074)Cct>Tct		mitogen-activated protein kinase 4							53.0	60.0	58.0					18																	48255532		2152	4235	6387	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48255532C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1072C>T	18.37:g.48255532C>T	ENSP00000383234:p.Pro358Ser					MAPK4_ENST00000592595.1_Silent_p.T232T|MAPK4_ENST00000540640.1_Missense_Mutation_p.P147S	p.P358S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2108	+		Colorectal(6;0.0297)	358					A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.1072C>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495230	0.26774	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.70045	-0.45;1.35	5.66	5.66	0.87406	.	0.206132	0.33631	N	0.004703	T	0.55178	0.1904	L	0.29908	0.895	0.80722	D	1	B	0.20459	0.045	B	0.18263	0.021	T	0.51268	-0.8727	10	0.11182	T	0.66	-19.5053	18.5086	0.90907	0.0:1.0:0.0:0.0	.	358	P31152	MK04_HUMAN	S	358;147	ENSP00000383234:P358S;ENSP00000439231:P147S	ENSP00000383234:P358S	P	+	1	0	MAPK4	46509530	1.000000	0.71417	0.998000	0.56505	0.587000	0.36485	6.559000	0.73946	2.665000	0.90641	0.561000	0.74099	CCT		0.652	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		76	372	0	0	0	1	0	76	372				
SRP68	6730	broad.mit.edu	37	17	74060140	74060140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060140G>A	ENST00000307877.2	-	4	639	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	SRP68_ENST00000539137.1_Missense_Mutation_p.R122C|SRP68_ENST00000355113.5_Missense_Mutation_p.R59C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	160					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACGGCTTTGCGTAGGCGAGAT	0.502																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(478-480)Cgc>Tgc		signal recognition particle 68kDa							189.0	166.0	174.0					17																	74060140		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74060140G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.478C>T	17.37:g.74060140G>A	ENSP00000312066:p.Arg160Cys					SRP68_ENST00000355113.5_Missense_Mutation_p.R59C|SRP68_ENST00000539137.1_Missense_Mutation_p.R122C	p.R160C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			4	639	-			160					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.478C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495567	0.96355	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.83768	0.0218	9	0.87932	D	0	-20.1451	20.1099	0.97909	0.0:0.0:1.0:0.0	.	122;160	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	122;160;160;160;59	.	ENSP00000307756:R160C	R	-	1	0	SRP68	71571735	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	9.756000	0.98918	2.753000	0.94483	0.585000	0.79938	CGC		0.502	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		124	521	0	0	0	1	0	124	521				
VTCN1	79679	broad.mit.edu	37	1	117695864	117695864	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117695864G>T	ENST00000369458.3	-	4	651	c.573C>A	c.(571-573)ttC>ttA	p.F191L	VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.F191L(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGACTTCCGAGAAGTTGGCTC	0.517																																						ENST00000369458.3																			1	Substitution - Missense(1)	p.F191L(1)	large_intestine(1)	large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(571-573)ttC>ttA		V-set domain containing T cell activation inhibitor 1							108.0	102.0	104.0					1																	117695864		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117695864G>T	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.573C>A	1.37:g.117695864G>T	ENSP00000358470:p.Phe191Leu					VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L|VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000463461.1_5'UTR	p.F191L	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	4	651	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	191			Ig-like V-type 2.			Missense_Mutation	SNP	ENST00000369458.3	37	c.573C>A	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	4.078	0.012318	0.07912	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.18174	3.74;3.73;2.23;4.12	5.34	2.48	0.30137	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090168	0.49305	D	0.000159	T	0.01254	0.0041	N	0.01874	-0.695	0.30785	N	0.741619	B;B	0.23128	0.08;0.055	B;B	0.22386	0.039;0.018	T	0.45600	-0.9250	10	0.08837	T	0.75	-18.4057	4.6641	0.12657	0.2591:0.1737:0.5672:0.0	.	75;191	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	L	191;194;75;96	ENSP00000358470:F191L;ENSP00000351899:F194L;ENSP00000328168:F75L;ENSP00000444724:F96L	ENSP00000328168:F75L	F	-	3	2	VTCN1	117497387	0.991000	0.36638	1.000000	0.80357	0.859000	0.49053	0.072000	0.14617	0.948000	0.37687	-0.128000	0.14901	TTC		0.517	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		37	400	1	0	4.65686e-17	1	5.13078e-17	37	400				
SLC23A3	151295	broad.mit.edu	37	2	220033556	220033556	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220033556C>A	ENST00000409878.3	-	5	525		c.e5-1		SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000295738.7_Splice_Site|SLC23A3_ENST00000455516.2_Splice_Site	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCGGACACCTGGTAGAAGA	0.577																																						ENST00000455516.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.e5-1		solute carrier family 23, member 3							20.0	23.0	22.0					2																	220033556		1961	4137	6098	SO:0001630	splice_region_variant	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220033556C>A	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.493-1G>T	2.37:g.220033556C>A						SLC23A3_ENST00000295738.7_Splice_Site|SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000409878.3_Splice_Site		NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	564	-		Renal(207;0.0474)						B7Z512|Q2PYN6|Q96NA6	Splice_Site	SNP	ENST00000409878.3	37		CCDS46518.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589338	0.46214	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	.	.	.	4.85	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6874	0.56956	0.0:0.9197:0.0:0.0803	.	.	.	.	.	-1	.	.	.	-	.	.	SLC23A3	219741800	1.000000	0.71417	0.994000	0.49952	0.779000	0.44077	3.472000	0.53114	1.277000	0.44412	0.655000	0.94253	.		0.577	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712	Intron	6	157	1	0	0.0293803	1	0.0294705	6	157				
DUS3L	56931	broad.mit.edu	37	19	5785800	5785800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5785800C>T	ENST00000309061.7	-	11	1661	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	522							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGCAGGGCGCCACTGTGGGA	0.662																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1564-1566)gGc>gAc		dihydrouridine synthase 3-like (S. cerevisiae)							24.0	18.0	20.0					19																	5785800		2193	4288	6481	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5785800C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1565G>A	19.37:g.5785800C>T	ENSP00000311977:p.Gly522Asp					DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	p.G522D	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			11	1661	-			522					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1565G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549753	0.65311	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.40756	1.02;1.02	4.26	4.26	0.50523	Aldolase-type TIM barrel (1);	0.057290	0.64402	D	0.000001	T	0.78666	0.4319	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87769	0.2604	10	0.87932	D	0	-12.2158	14.212	0.65771	0.0:1.0:0.0:0.0	.	280;522	Q96G46-3;Q96G46	.;DUS3L_HUMAN	D	522;280	ENSP00000311977:G522D;ENSP00000315558:G280D	ENSP00000311977:G522D	G	-	2	0	DUS3L	5736800	1.000000	0.71417	0.606000	0.28943	0.306000	0.27790	7.411000	0.80078	1.947000	0.56498	0.555000	0.69702	GGC		0.662	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		9	50	0	0	0	1	0	9	50				
BBS10	79738	broad.mit.edu	37	12	76740403	76740403	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740403A>C	ENST00000393262.3	-	2	1445	c.1362T>G	c.(1360-1362)agT>agG	p.S454R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	454					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTGCTTGATAACTTTCTCCAC	0.348									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(1360-1362)agT>agG		Bardet-Biedl syndrome 10							84.0	89.0	88.0					12																	76740403		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740403A>C	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1362T>G	12.37:g.76740403A>C	ENSP00000376946:p.Ser454Arg						p.S454R	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	1445	-			454					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.1362T>G	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	1.011	-0.688023	0.03328	.	.	ENSG00000179941	ENST00000393262	D	0.85955	-2.05	4.68	2.25	0.28309	.	0.440664	0.21561	N	0.072570	T	0.78585	0.4306	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.67074	-0.5762	10	0.46703	T	0.11	-1.8535	7.4204	0.27069	0.8247:0.0:0.1753:0.0	.	454	Q8TAM1	BBS10_HUMAN	R	454	ENSP00000376946:S454R	ENSP00000376946:S454R	S	-	3	2	BBS10	75264534	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.316000	0.19469	0.373000	0.24621	0.533000	0.62120	AGT		0.348	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		92	417	0	0	0	1	0	92	417				
NEK5	341676	broad.mit.edu	37	13	52684547	52684547	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52684547C>T	ENST00000355568.4	-	7	536		c.e7-1			NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5						positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAAAATGTTCTATAAATGGA	0.363																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.e7-1		NIMA-related kinase 5							151.0	141.0	145.0					13																	52684547		2203	4300	6503	SO:0001630	splice_region_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52684547C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.397-1G>A	13.37:g.52684547C>T								NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	7	536	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						Q5TAP5	Splice_Site	SNP	ENST00000355568.4	37		CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607818	0.66558	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK5	51582548	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	7.383000	0.79741	2.361000	0.80049	0.460000	0.39030	.		0.363	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	Intron	34	352	0	0	0	1	0	34	352				
HIST1H1D	3007	broad.mit.edu	37	6	26234693	26234693	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234693T>C	ENST00000244534.5	-	1	523	c.469A>G	c.(469-471)Aag>Gag	p.K157E		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	157					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTACCTTCTTAGGAGTCTTT	0.552																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(469-471)Aag>Gag		histone cluster 1, H1d							89.0	95.0	93.0					6																	26234693		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234693T>C	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.469A>G	6.37:g.26234693T>C	ENSP00000244534:p.Lys157Glu						p.K157E	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	523	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	157					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.469A>G	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527109	0.44969	.	.	ENSG00000124575	ENST00000244534	T	0.26518	1.73	5.22	5.22	0.72569	.	0.162509	0.52532	D	0.000080	T	0.20700	0.0498	N	0.08118	0	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.33879	-0.9851	10	0.66056	D	0.02	-6.8494	14.5864	0.68328	0.0:0.0:0.0:1.0	.	157	P16402	H13_HUMAN	E	157	ENSP00000244534:K157E	ENSP00000244534:K157E	K	-	1	0	HIST1H1D	26342672	1.000000	0.71417	0.883000	0.34634	0.006000	0.05464	5.885000	0.69736	2.115000	0.64714	0.528000	0.53228	AAG		0.552	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		116	542	0	0	0	1	0	116	542				
MTURN	222166	broad.mit.edu	37	7	30174882	30174882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30174882C>A	ENST00000324453.8	+	1	457	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M|C7orf41_ENST00000409688.1_Missense_Mutation_p.L44M	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		44					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						CTTCTATGTGCTGTGTCCGGA	0.657																																						ENST00000324453.8																			0				NS(1)|large_intestine(2)	3						c.(130-132)Ctg>Atg									22.0	29.0	26.0					7																	30174882		2158	4270	6428	SO:0001583	missense	0							g.chr7:30174882C>A																												ENST00000324453.8:c.130C>A	7.37:g.30174882C>A	ENSP00000324204:p.Leu44Met					C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M|C7orf41_ENST00000409688.1_Missense_Mutation_p.L44M	p.L44M	NM_152793.2	NP_690006.2	Q8N3F0	CG041_HUMAN			1	457	+			44					B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	c.130C>A	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816213	0.50527	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.65	2.75	0.32379	.	0.207640	0.30714	U	0.009021	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	D	0.65323	0.934	T	0.52668	-0.8545	9	0.66056	D	0.02	-9.4088	8.8308	0.35082	0.0:0.8806:0.0:0.1194	.	44	Q8N3F0	CG041_HUMAN	M	44	.	ENSP00000324204:L44M	L	+	1	2	C7orf41	30141407	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	3.833000	0.55790	0.497000	0.27926	0.289000	0.19496	CTG		0.657	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1			11	73	1	0	0.000151284	1	0.000153739	11	73				
ZNF585B	92285	broad.mit.edu	37	19	37677451	37677451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677451C>T	ENST00000532828.2	-	5	1239	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCATATTCGGTACATATA	0.398																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(988-990)Gaa>Aaa		zinc finger protein 585B							177.0	162.0	167.0					19																	37677451		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677451C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.988G>A	19.37:g.37677451C>T	ENSP00000433773:p.Glu330Lys					ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K	p.E330K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1239	-			330					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.988G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728860	0.15507	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.07327	3.2;3.2	2.93	1.87	0.25490	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.618927	0.13412	N	0.389765	T	0.05914	0.0154	N	0.20530	0.585	0.34244	D	0.677925	B;B	0.17667	0.023;0.014	B;B	0.14023	0.003;0.01	T	0.14035	-1.0487	10	0.56958	D	0.05	.	8.637	0.33955	0.0:0.8754:0.0:0.1246	.	275;330	E9PQH3;Q52M93	.;Z585B_HUMAN	K	275;330	ENSP00000436774:E275K;ENSP00000433773:E330K	ENSP00000436774:E275K	E	-	1	0	ZNF585B	42369291	0.000000	0.05858	0.006000	0.13384	0.279000	0.26890	-0.285000	0.08410	0.542000	0.28846	0.455000	0.32223	GAA		0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		132	557	0	0	0	1	0	132	557				
MLNR	2862	broad.mit.edu	37	13	49794908	49794908	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49794908C>T	ENST00000218721.1	+	1	435	c.435C>T	c.(433-435)cgC>cgT	p.R145R	MLNR_ENST00000398307.1_Silent_p.R145R	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	145					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCCCGCTCCGCGCCCGCGTCT	0.721																																						ENST00000398307.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(433-435)cgC>cgT		motilin receptor							7.0	7.0	7.0					13																	49794908		2147	4158	6305	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49794908C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.435C>T	13.37:g.49794908C>T						MLNR_ENST00000218721.1_Silent_p.R145R	p.R145R			O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	435	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	145						Silent	SNP	ENST00000218721.1	37	c.435C>T	CCDS9414.1																																																																																				0.721	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		4	46	0	0	0	1	0	4	46				
XRN1	54464	broad.mit.edu	37	3	142095328	142095328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142095328T>C	ENST00000264951.4	-	24	2941	c.2824A>G	c.(2824-2826)Agg>Ggg	p.R942G	XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	942					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTTTCTCCTAGATCCTCTT	0.308																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(2824-2826)Agg>Ggg		5'-3' exoribonuclease 1							31.0	33.0	32.0					3																	142095328		2198	4297	6495	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142095328T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2824A>G	3.37:g.142095328T>C	ENSP00000264951:p.Arg942Gly					XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	p.R942G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			24	2941	-			942					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2824A>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971976	0.74246	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32272	1.46;1.46	5.53	5.53	0.82687	.	0.054497	0.85682	D	0.000000	T	0.31702	0.0805	L	0.56280	1.765	0.80722	D	1	B;B;B	0.18166	0.026;0.016;0.002	B;B;B	0.15484	0.008;0.013;0.002	T	0.04664	-1.0935	10	0.34782	T	0.22	-14.6321	15.6489	0.77076	0.0:0.0:0.0:1.0	.	803;942;942	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	G	942	ENSP00000264951:R942G;ENSP00000376707:R942G	ENSP00000264951:R942G	R	-	1	2	XRN1	143578018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.112000	0.64535	0.482000	0.46254	AGG		0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		37	142	0	0	0	1	0	37	142				
MSI2	124540	broad.mit.edu	37	17	55752391	55752391	+	Silent	SNP	C	C	T	rs141534185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55752391C>T	ENST00000284073.2	+	12	1058	c.849C>T	c.(847-849)gcC>gcT	p.A283A	MSI2_ENST00000442934.2_Silent_p.A222A|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Silent_p.A279A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	283						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GACCTGTCGCCGATCTCTACG	0.682			T	HOXA9	CML								C|||	1	0.000199681	0.0	0.0	5008	,	,		15376	0.0		0.001	False		,,,				2504	0.0					ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(847-849)gcC>gcT		musashi RNA-binding protein 2		C		0,4406		0,0,2203	48.0	58.0	55.0		849	2.0	1.0	17	dbSNP_134	55	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MSI2	NM_138962.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		283/329	55752391	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55752391C>T	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.849C>T	17.37:g.55752391C>T						MSI2_ENST00000416426.2_Silent_p.A279A|MSI2_ENST00000442934.2_Silent_p.A222A|MSI2_ENST00000579505.1_3'UTR	p.A283A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	12	1058	+	Breast(9;1.78e-08)		283					Q7Z6M7|Q8N9T4	Silent	SNP	ENST00000284073.2	37	c.849C>T	CCDS11596.1																																																																																				0.682	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			15	896	0	0	0	1	0	15	896				
TTC9	23508	broad.mit.edu	37	14	71134289	71134289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71134289C>A	ENST00000256367.2	+	2	758	c.415C>A	c.(415-417)Ctc>Atc	p.L139I		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	139										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGCCTGCCTGCTCCAGGCTGA	0.512																																						ENST00000256367.2																			0				skin(1)	1						c.(415-417)Ctc>Atc		tetratricopeptide repeat domain 9							50.0	49.0	49.0					14																	71134289		1967	4177	6144	SO:0001583	missense	23508						binding	g.chr14:71134289C>A	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.415C>A	14.37:g.71134289C>A	ENSP00000256367:p.Leu139Ile						p.L139I	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	2	758	+			139					Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.415C>A	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937230	0.52972	.	.	ENSG00000133985	ENST00000256367	T	0.21932	1.98	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000021	T	0.44726	0.1307	L	0.58101	1.795	0.52501	D	0.99995	D	0.89917	1.0	D	0.83275	0.996	T	0.23297	-1.0192	10	0.48119	T	0.1	-20.3401	18.5279	0.90980	0.0:1.0:0.0:0.0	.	139	Q92623	TTC9A_HUMAN	I	139	ENSP00000256367:L139I	ENSP00000256367:L139I	L	+	1	0	TTC9	70204042	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	3.420000	0.52735	2.596000	0.87737	0.655000	0.94253	CTC		0.512	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		43	185	1	0	2.56175e-15	1	2.79687e-15	43	185				
ZC3H10	84872	broad.mit.edu	37	12	56514521	56514521	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56514521C>T	ENST00000257940.2	+	3	451	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	59							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TTGCCGATATCGCCACCCAGA	0.567																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(175-177)Cgc>Tgc		zinc finger CCCH-type containing 10							128.0	109.0	115.0					12																	56514521		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56514521C>T	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.175C>T	12.37:g.56514521C>T	ENSP00000257940:p.Arg59Cys					RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	p.R59C	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	451	+			59						Missense_Mutation	SNP	ENST00000257940.2	37	c.175C>T	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181558	0.57800	.	.	ENSG00000135482	ENST00000257940;ENST00000552345;ENST00000546903	T;T	0.41400	1.0;1.0	4.82	4.82	0.62117	Zinc finger, CCCH-type (2);	0.147583	0.39985	N	0.001211	T	0.46698	0.1406	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	P	0.54706	0.759	T	0.43605	-0.9381	10	0.66056	D	0.02	-5.2356	12.3108	0.54927	0.1695:0.8305:0.0:0.0	.	59	Q96K80	ZC3HA_HUMAN	C	59	ENSP00000450122:R59C;ENSP00000448881:R59C	ENSP00000257940:R59C	R	+	1	0	ZC3H10	54800788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.293000	0.51779	2.676000	0.91093	0.655000	0.94253	CGC		0.567	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		12	492	0	0	0	1	0	12	492				
NRXN1	9378	broad.mit.edu	37	2	51255298	51255298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255298G>A	ENST00000406316.2	-	2	1590	c.114C>T	c.(112-114)ggC>ggT	p.G38G	NRXN1_ENST00000404971.1_Silent_p.G38G|NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000406859.3_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G|NRXN1_ENST00000401669.2_Silent_p.G38G|NRXN1_ENST00000405472.3_Silent_p.G38G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	38	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGTCCATTGGCCCTCGGCGC	0.677																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(112-114)ggC>ggT		neurexin 1							7.0	9.0	8.0					2																	51255298		1954	4104	6058	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255298G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.114C>T	2.37:g.51255298G>A						NRXN1_ENST00000406859.3_Silent_p.G38G|NRXN1_ENST00000401669.2_Silent_p.G38G|NRXN1_ENST00000405472.3_Silent_p.G38G|NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000406316.2_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G	p.G38G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1453	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	38			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.114C>T	CCDS54360.1																																																																																				0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			22	32	0	0	0	1	0	22	32				
UPF2	26019	broad.mit.edu	37	10	11984744	11984744	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11984744C>T	ENST00000356352.2	-	17	3771	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S|UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1100	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAGTCCACCGCCTTTAATC	0.333																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(3298-3300)Ggt>Agt		UPF2 regulator of nonsense transcripts homolog (yeast)							116.0	120.0	119.0					10																	11984744		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11984744C>T	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3298G>A	10.37:g.11984744C>T	ENSP00000348708:p.Gly1100Ser					UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S|UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S	p.G1100S			Q9HAU5	RENT2_HUMAN			17	3771	-		Renal(717;0.228)	1100			Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.3298G>A	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710862	0.68730	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053;ENST00000359268	T;T;T	0.42131	0.98;0.98;0.98	5.1	5.1	0.69264	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.47262	-0.9131	10	0.09338	T	0.73	.	18.8593	0.92266	0.0:1.0:0.0:0.0	.	1100	Q9HAU5	RENT2_HUMAN	S	1100;1100;1100;5	ENSP00000348708:G1100S;ENSP00000350221:G1100S;ENSP00000380244:G1100S	ENSP00000348708:G1100S	G	-	1	0	UPF2	12024750	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.202000	0.77856	2.535000	0.85469	0.557000	0.71058	GGT		0.333	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			57	279	0	0	0	1	0	57	279				
THBS2	7058	broad.mit.edu	37	6	169634946	169634946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169634946C>T	ENST00000366787.3	-	11	1783	c.1534G>A	c.(1534-1536)Ggt>Agt	p.G512S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	512	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGATCCCACCGGCACAGGTG	0.677																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1534-1536)Ggt>Agt		thrombospondin 2							43.0	44.0	44.0					6																	169634946		2202	4300	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169634946C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1534G>A	6.37:g.169634946C>T	ENSP00000355751:p.Gly512Ser					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G512S	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	11	1783	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	512			TSP type-1 3.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1534G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201210	0.58234	.	.	ENSG00000186340	ENST00000366787	T	0.51071	0.72	4.38	4.38	0.52667	.	0.000000	0.40469	U	0.001090	T	0.38532	0.1044	M	0.71871	2.18	0.58432	D	0.999993	P	0.36378	0.55	B	0.35278	0.199	T	0.51888	-0.8648	10	0.59425	D	0.04	-25.311	17.2925	0.87160	0.0:1.0:0.0:0.0	.	512	P35442	TSP2_HUMAN	S	512	ENSP00000355751:G512S	ENSP00000355751:G512S	G	-	1	0	THBS2	169376871	1.000000	0.71417	0.079000	0.20413	0.269000	0.26545	5.587000	0.67510	2.150000	0.67090	0.590000	0.80494	GGT		0.677	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		73	308	0	0	0	1	0	73	308				
PKD1L1	168507	broad.mit.edu	37	7	47906046	47906046	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47906046A>G	ENST00000289672.2	-	25	4113	c.4063T>C	c.(4063-4065)Tca>Cca	p.S1355P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1355	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGCATACTGAAGAAATTAAT	0.458																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4063-4065)Tca>Cca		polycystic kidney disease 1 like 1							169.0	147.0	155.0					7																	47906046		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47906046A>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4063T>C	7.37:g.47906046A>G	ENSP00000289672:p.Ser1355Pro						p.S1355P	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			25	4113	-			1355			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4063T>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822259	0.32237	.	.	ENSG00000158683	ENST00000289672	T	0.22539	1.95	4.94	3.75	0.43078	Egg jelly receptor, REJ-like (1);	0.367956	0.22074	N	0.064993	T	0.37237	0.0996	L	0.60455	1.87	0.26739	N	0.970422	D	0.76494	0.999	D	0.66196	0.942	T	0.12502	-1.0545	10	0.66056	D	0.02	-10.6409	9.1496	0.36955	0.6412:0.3588:0.0:0.0	.	1355	Q8TDX9	PK1L1_HUMAN	P	1355	ENSP00000289672:S1355P	ENSP00000289672:S1355P	S	-	1	0	PKD1L1	47872571	1.000000	0.71417	0.544000	0.28141	0.224000	0.24922	1.602000	0.36783	0.706000	0.31912	0.533000	0.62120	TCA		0.458	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		89	428	0	0	0	1	0	89	428				
ABCF1	23	broad.mit.edu	37	6	30546253	30546253	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30546253A>T	ENST00000326195.8	+	6	500	c.388A>T	c.(388-390)Aat>Tat	p.N130Y	ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	130					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTAGGGTGGTAATGTTTTTGC	0.478																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(388-390)Aat>Tat		ATP-binding cassette, sub-family F (GCN20), member 1							100.0	85.0	90.0					6																	30546253		2203	4300	6503	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30546253A>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.388A>T	6.37:g.30546253A>T	ENSP00000313603:p.Asn130Tyr					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y	p.N130Y	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			6	500	+			130					A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.388A>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298034	0.81025	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.68765	1.53;0.54;0.62;-0.35	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.77400	-0.2602	10	0.87932	D	0	-28.44	11.675	0.51424	1.0:0.0:0.0:0.0	.	130;130;130	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	Y	130;130;131;131;33	ENSP00000313603:N130Y;ENSP00000365728:N130Y;ENSP00000405512:N131Y;ENSP00000440893:N33Y	ENSP00000313603:N130Y	N	+	1	0	ABCF1	30654232	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	7.007000	0.76335	2.084000	0.62774	0.460000	0.39030	AAT		0.478	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			42	155	0	0	0	1	0	42	155				
SF3B2	10992	broad.mit.edu	37	11	65829183	65829183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65829183G>T	ENST00000322535.6	+	15	1855	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	SF3B2_ENST00000528302.1_Missense_Mutation_p.K585N	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	602				K -> E (in Ref. 1; BAF83539). {ECO:0000305}.	gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CACGACTGAAGGAGAAGAAGC	0.517																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1753-1755)aaG>aaT		splicing factor 3b, subunit 2, 145kDa							132.0	129.0	130.0					11																	65829183		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65829183G>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1806G>T	11.37:g.65829183G>T	ENSP00000318861:p.Lys602Asn					SF3B2_ENST00000322535.6_Missense_Mutation_p.K602N	p.K585N			Q13435	SF3B2_HUMAN			14	1809	+			602					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1755G>T	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.295452|4.295452	0.81025|0.81025	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.65|5.65	4.74|4.74	0.60224|0.60224	PSP, proline-rich (1);|.	0.093473|.	0.64402|.	D|.	0.000001|.	T|T	0.76385|0.76385	0.3980|0.3980	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71656|.	0.974|.	T|T	0.78588|0.78588	-0.2146|-0.2146	9|5	0.87932|.	D|.	0|.	-34.11|-34.11	12.2431|12.2431	0.54555|0.54555	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	602|.	Q13435|.	SF3B2_HUMAN|.	N|M	585;602;506|23	.|.	ENSP00000318861:K602N|.	K|R	+|+	3|2	2|0	SF3B2|SF3B2	65585759|65585759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.361000|3.361000	0.52306|0.52306	1.393000|1.393000	0.46605|0.46605	0.557000|0.557000	0.71058|0.71058	AAG|AGG		0.517	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			15	259	1	0	4.75885e-15	1	5.18821e-15	15	259				
TSTD2	158427	broad.mit.edu	37	9	100365039	100365039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100365039G>T	ENST00000341170.4	-	10	1645	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	421										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GGGCTCCACAGTATGAACACT	0.512																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1261-1263)taC>taA		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							56.0	56.0	56.0					9																	100365039		2203	4300	6503	SO:0001587	stop_gained	158427							g.chr9:100365039G>T	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1263C>A	9.37:g.100365039G>T	ENSP00000342499:p.Tyr421*					TSTD2_ENST00000375172.2_Nonsense_Mutation_p.Y195*|TSTD2_ENST00000375173.1_Nonsense_Mutation_p.Y17*	p.Y421*	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			10	1645	-			421					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Nonsense_Mutation	SNP	ENST00000341170.4	37	c.1263C>A	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	44	11.259084	0.99538	.	.	ENSG00000136925	ENST00000375173;ENST00000375172;ENST00000341170	.	.	.	5.75	3.86	0.44501	.	0.060741	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2467	13.5115	0.61515	0.1371:0.0:0.8629:0.0	.	.	.	.	X	17;195;421	.	ENSP00000342499:Y421X	Y	-	3	2	TSTD2	99404860	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.157000	0.50716	1.550000	0.49438	0.655000	0.94253	TAC		0.512	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		66	250	1	0	1.64573e-32	1	1.94376e-32	66	250				
CRYBG3	131544	broad.mit.edu	37	3	97655719	97655719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97655719G>A	ENST00000182096.4	+	16	2692	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2824							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCAGCAGATGGAAAACAATTG	0.413																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2626-2628)tgG>tgA		beta-gamma crystallin domain containing 3							92.0	82.0	85.0					3																	97655719		1857	4108	5965	SO:0001587	stop_gained	131544							g.chr3:97655719G>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2628G>A	3.37:g.97655719G>A	ENSP00000182096:p.Trp876*					CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	p.W876*	NM_153605.3	NP_705833.3					16	2692	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Nonsense_Mutation	SNP	ENST00000182096.4	37	c.2628G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.439729	0.98286	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	.	.	.	5.54	5.54	0.83059	.	1.814360	0.02012	N	0.047103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1055	0.93293	0.0:0.0:1.0:0.0	.	.	.	.	X	876;82;83	.	ENSP00000182096:W876X	W	+	3	0	CRYBG3	99138409	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.332000	0.72934	2.609000	0.88269	0.655000	0.94253	TGG		0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		58	265	0	0	0	1	0	58	265				
ZAN	7455	broad.mit.edu	37	7	100389759	100389759	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100389759G>T	ENST00000348028.3	+	0	7865				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCCCCAGAGCCCTTCCAAG	0.667																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							22.0	25.0	24.0					7																	100389759		1988	4157	6145			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100389759G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100389759G>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7846	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.12|13.12	2.141535|2.141535	0.37825|0.37825	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.76839|0.25579	-1.05;-1.05;-1.05|1.79	3.29|3.29	0.379|0.379	0.16213|0.16213	Uncharacterised domain, cysteine-rich (2);|.	0.499517|.	0.16268|.	N|.	0.221914|.	T|T	0.11024|0.11024	0.0269|0.0269	N|N	0.08118|0.08118	0|0	0.21386|0.21386	N|N	0.999706|0.999706	B;B|B	0.21071|0.32031	0.041;0.051|0.352	B;B|B	0.24394|0.30716	0.031;0.053|0.119	T|T	0.23226|0.23226	-1.0194|-1.0194	10|9	0.29301|0.87932	T|D	0.29|0	.|.	3.0222|3.0222	0.06079|0.06079	0.2412:0.0:0.5471:0.2117|0.2412:0.0:0.5471:0.2117	.|.	2566;2567|983	F5H0T8;Q9Y493|F5GX59	.;ZAN_HUMAN|.	D|I	2566|983	ENSP00000445943:E2566D;ENSP00000445091:E2566D;ENSP00000444427:E2566D|ENSP00000441117:S983I	ENSP00000445091:E2566D|ENSP00000423579:S2567I	E|S	+|+	3|2	2|0	ZAN|ZAN	100227695|100227695	0.323000|0.323000	0.24643|0.24643	0.951000|0.951000	0.38953|0.38953	0.986000|0.986000	0.74619|0.74619	-0.479000|-0.479000	0.06567|0.06567	0.067000|0.067000	0.16545|0.16545	0.556000|0.556000	0.70494|0.70494	GAG|AGC		0.667	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	94	1	0	2.23348e-06	1	2.30073e-06	14	94				
DAB2	1601	broad.mit.edu	37	5	39382969	39382969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39382969C>T	ENST00000320816.6	-	10	1559	c.1092G>A	c.(1090-1092)tgG>tgA	p.W364*	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	364	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAAAAGGGCCATGGGCCTG	0.502																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(1090-1092)tgG>tgA		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							77.0	81.0	80.0					5																	39382969		2203	4300	6503	SO:0001587	stop_gained	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39382969C>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1092G>A	5.37:g.39382969C>T	ENSP00000313391:p.Trp364*					DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*	p.W364*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1559	-	all_lung(31;0.000197)		364					A6NES5|Q13598|Q9BTY0|Q9UK04	Nonsense_Mutation	SNP	ENST00000320816.6	37	c.1092G>A	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	37	6.162273	0.97338	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	.	.	.	5.73	5.73	0.89815	.	0.075986	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4116	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	364;343;343	.	ENSP00000313391:W364X	W	-	3	0	DAB2	39418726	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	TGG		0.502	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		50	260	0	0	0	1	0	50	260				
THG1L	54974	broad.mit.edu	37	5	157161741	157161741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157161741C>T	ENST00000231198.7	+	3	770	c.526C>T	c.(526-528)Cga>Tga	p.R176*	AC026407.1_ENST00000599823.1_5'Flank	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	176					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCAGCTGGCGACAAGCAGA	0.468																																						ENST00000231198.7																			0				NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13						c.(526-528)Cga>Tga		tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)							90.0	79.0	83.0					5																	157161741		2203	4300	6503	SO:0001587	stop_gained	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157161741C>T	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.526C>T	5.37:g.157161741C>T	ENSP00000231198:p.Arg176*						p.R176*	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	770	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	176					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Nonsense_Mutation	SNP	ENST00000231198.7	37	c.526C>T	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	C	38	7.280306	0.98182	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	.	.	.	5.95	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.3795	14.6076	0.68493	0.5054:0.4946:0.0:0.0	.	.	.	.	X	176;51	.	ENSP00000231198:R176X	R	+	1	2	THG1L	157094319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	0.799000	0.34018	0.650000	0.86243	CGA		0.468	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		52	243	0	0	0	1	0	52	243				
FAM35A	54537	broad.mit.edu	37	10	88940025	88940025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88940025C>T	ENST00000298784.1	+	7	2271	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	FAM35A_ENST00000298786.4_Silent_p.S788S	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	719										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AATGTTTTAGCTGCTTGCCAT	0.323																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2362-2364)agC>agT		family with sequence similarity 35, member A							21.0	25.0	24.0					10																	88940025		2187	4275	6462	SO:0001819	synonymous_variant	54537							g.chr10:88940025C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2157C>T	10.37:g.88940025C>T						FAM35A_ENST00000298784.1_Silent_p.S719S	p.S788S			Q86V20	FA35A_HUMAN			8	2478	+			719					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2364C>T	CCDS7383.1																																																																																				0.323	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		51	235	0	0	0	1	0	51	235				
DECR2	26063	broad.mit.edu	37	16	461408	461408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:461408C>T	ENST00000219481.5	+	8	847	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	237					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CAGCCCGCTGCAGAGGCTGGG	0.692																																						ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(709-711)Cag>Tag		2,4-dienoyl CoA reductase 2, peroxisomal							49.0	51.0	50.0					16																	461408		2202	4299	6501	SO:0001587	stop_gained	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:461408C>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.709C>T	16.37:g.461408C>T	ENSP00000219481:p.Gln237*					DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*	p.Q237*	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			8	847	+		Hepatocellular(16;0.00015)	237					Q6ZRS7|Q96ET0	Nonsense_Mutation	SNP	ENST00000219481.5	37	c.709C>T	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244166	0.59103	.	.	ENSG00000242612	ENST00000219481;ENST00000424398	.	.	.	5.33	4.35	0.52113	.	0.272166	0.43260	D	0.000583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.0866	0.64962	0.1518:0.8482:0.0:0.0	.	.	.	.	X	237;225	.	ENSP00000219481:Q237X	Q	+	1	0	DECR2	401409	1.000000	0.71417	0.997000	0.53966	0.582000	0.36321	3.819000	0.55686	1.195000	0.43115	0.555000	0.69702	CAG		0.692	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		66	298	0	0	0	1	0	66	298				
ZNF598	90850	broad.mit.edu	37	16	2049591	2049591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2049591G>A	ENST00000563630.1	-	9	2036	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.L653L|ZNF598_ENST00000562103.1_Silent_p.L598L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	653	Pro-rich.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGCCTTGGGAGCCCAGGGG	0.731																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1792-1794)ctC>ctT		zinc finger protein 598							11.0	14.0	13.0					16																	2049591		1715	3872	5587	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2049591G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1794C>T	16.37:g.2049591G>A						ZNF598_ENST00000562103.1_Silent_p.L598L|ZNF598_ENST00000431526.1_Silent_p.L653L	p.L598L			Q86UK7	ZN598_HUMAN			9	2036	-			653			Pro-rich.		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1794C>T																																																																																					0.731	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		30	129	0	0	0	1	0	30	129				
SMAD9	4093	broad.mit.edu	37	13	37447026	37447026	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37447026G>A	ENST00000399275.2	-	2	578	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	SMAD9_ENST00000350148.5_Missense_Mutation_p.H147Y|SMAD9_ENST00000379826.4_Missense_Mutation_p.H147Y			O15198	SMAD9_HUMAN	SMAD family member 9	147					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTCACTGTGTCTTGGCACG	0.527																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(439-441)Cac>Tac		SMAD family member 9							97.0	86.0	90.0					13																	37447026		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37447026G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.439C>T	13.37:g.37447026G>A	ENSP00000382216:p.His147Tyr					SMAD9_ENST00000399275.2_Missense_Mutation_p.H147Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.H147Y	p.H147Y	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	3	781	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	147					A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.439C>T	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092689	0.56075	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94376	-3.41;-3.4;-3.41	5.24	5.24	0.73138	MAD homology, MH1 (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.005	D	0.88287	0.2940	10	0.29301	T	0.29	.	18.172	0.89749	0.0:0.0:1.0:0.0	.	147;147	O15198-2;O15198	.;SMAD9_HUMAN	Y	147	ENSP00000382216:H147Y;ENSP00000239885:H147Y;ENSP00000369154:H147Y	ENSP00000239885:H147Y	H	-	1	0	SMAD9	36345026	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.590000	0.87494	0.563000	0.77884	CAC		0.527	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		38	170	0	0	0	1	0	38	170				
AP5S1	55317	broad.mit.edu	37	20	3804798	3804798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3804798C>A	ENST00000246041.2	+	3	676	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Missense_Mutation_p.L153M			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	153					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											CCTCCGGCTGCTGGCGCCCAG	0.632																																						ENST00000246041.2																			0											c.(457-459)Ctg>Atg		adaptor-related protein complex 5, sigma 1 subunit							77.0	60.0	66.0					20																	3804798		2203	4300	6503	SO:0001583	missense	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3804798C>A	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"""chromosome 20 open reading frame 29"""	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.457C>A	20.37:g.3804798C>A	ENSP00000246041:p.Leu153Met					AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Missense_Mutation_p.L153M	p.L153M			Q9NUS5	CT029_HUMAN			3	676	+			153					B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	c.457C>A	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231087	0.58777	.	.	ENSG00000125843	ENST00000379567;ENST00000246041	.	.	.	5.72	3.79	0.43588	.	0.078451	0.52532	D	0.000067	T	0.64549	0.2608	M	0.68952	2.095	0.43657	D	0.996079	P	0.49559	0.925	P	0.54759	0.76	T	0.66767	-0.5840	9	0.66056	D	0.02	-10.604	8.023	0.30421	0.0:0.8197:0.0:0.1803	.	153	Q9NUS5	CT029_HUMAN	M	153	.	ENSP00000246041:L153M	L	+	1	2	C20orf29	3752798	1.000000	0.71417	0.990000	0.47175	0.547000	0.35210	3.130000	0.50508	1.419000	0.47118	0.561000	0.74099	CTG		0.632	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		41	202	1	0	2.87052e-16	1	3.15093e-16	41	202				
OR4C3	256144	broad.mit.edu	37	11	48347003	48347003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48347003G>T	ENST00000319856.4	+	1	532	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CATGCTTGTAGGGGTGGCTTG	0.532																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(511-513)Ggg>Tgg		olfactory receptor, family 4, subfamily C, member 3							131.0	126.0	128.0					11																	48347003		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347003G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.511G>T	11.37:g.48347003G>T	ENSP00000321419:p.Gly171Trp						p.G171W	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	532	+			144					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.511G>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285671	0.59867	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.38887	1.11	5.78	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.571355	0.15898	N	0.239189	T	0.56790	0.2009	M	0.66297	2.02	0.18873	N	0.999988	D	0.64830	0.994	D	0.69479	0.964	T	0.44605	-0.9317	10	0.62326	D	0.03	.	7.5617	0.27855	0.0815:0.0:0.6439:0.2746	.	144	Q8NH37	OR4C3_HUMAN	W	171;34	ENSP00000321419:G171W	ENSP00000321419:G171W	G	+	1	0	OR4C3	48303579	0.044000	0.20184	0.985000	0.45067	0.891000	0.51852	2.304000	0.43655	2.782000	0.95742	0.478000	0.44815	GGG		0.532	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		14	430	1	0	1.5842e-08	1	1.65642e-08	14	430				
CYP4F12	66002	broad.mit.edu	37	19	15807727	15807727	+	Silent	SNP	C	C	T	rs374923776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15807727C>T	ENST00000550308.1	+	13	1787	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F12_ENST00000324632.10_Silent_p.I469I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	469					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGAACTGCATCGGGCAGGCGT	0.637																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1405-1407)atC>atT		cytochrome P450, family 4, subfamily F, polypeptide 12		C		0,4406		0,0,2203	34.0	32.0	33.0		1407	-4.6	0.6	19		33	1,8599		0,1,4299	no	coding-synonymous	CYP4F12	NM_023944.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		469/525	15807727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15807727C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1407C>T	19.37:g.15807727C>T						CYP4F12_ENST00000324632.9_Silent_p.I469I	p.I469I	NM_023944.3	NP_076433.3					13	1787	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1407C>T	CCDS42517.1																																																																																				0.637	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			38	151	0	0	0	1	0	38	151				
ERCC4	2072	broad.mit.edu	37	16	14029331	14029331	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029331T>G	ENST00000311895.7	+	8	1551	c.1542T>G	c.(1540-1542)taT>taG	p.Y514*	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	514					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGGAAGGATATCGTCGAGAAA	0.413			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1540-1542)taT>taG	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							73.0	74.0	73.0					16																	14029331		2197	4300	6497	SO:0001587	stop_gained	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029331T>G	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1542T>G	16.37:g.14029331T>G	ENSP00000310520:p.Tyr514*					CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	p.Y514*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			8	1551	+			514					A5PKV6|A8K111|O00140|Q8TD83	Nonsense_Mutation	SNP	ENST00000311895.7	37	c.1542T>G	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254748	0.39896	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	.	.	.	5.51	-5.5	0.02576	.	3.664390	0.00397	N	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	8.8712	9.2505	0.37551	0.0:0.4804:0.2273:0.2922	.	.	.	.	X	514;503	.	ENSP00000310520:Y514X	Y	+	3	2	ERCC4	13936832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.546000	0.02188	-1.237000	0.02539	-0.250000	0.11733	TAT		0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		10	385	0	0	0	1	0	10	385				
NDUFB1	4707	broad.mit.edu	37	14	92588068	92588068	+	5'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92588068G>A	ENST00000553514.1	-	0	0				NDUFB1_ENST00000556555.1_5'Flank|NDUFB1_ENST00000555441.1_5'Flank|NDUFB1_ENST00000329559.3_Silent_p.V18V|CPSF2_ENST00000298875.4_5'Flank|NDUFB1_ENST00000605997.1_5'UTR			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		GCGACCTCGGGACCTGCCATT	0.597																																						ENST00000329559.3																			0				large_intestine(1)|lung(1)	2						c.(52-54)gtC>gtT		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	NADH(DB00157)						42.0	47.0	45.0					14																	92588068		2203	4293	6496	SO:0001623	5_prime_UTR_variant	4707				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr14:92588068G>A	BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.-206C>T	14.37:g.92588068G>A						NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	p.V18V	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)	1	193	-		all_cancers(154;0.0766)	0					A0AV68	Silent	SNP	ENST00000553514.1	37	c.54C>T																																																																																					0.597	NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412116.2	NM_004545		48	454	0	0	0	1	0	48	454				
USP19	10869	broad.mit.edu	37	3	49152269	49152269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49152269C>T	ENST00000398888.2	-	14	2228	c.1910G>A	c.(1909-1911)aGg>aAg	p.R637K	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000417901.1_Missense_Mutation_p.R740K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000398896.1_Missense_Mutation_p.R445K|USP19_ENST00000453664.1_Missense_Mutation_p.R728K	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	637	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGTCATTCCTCATCTTGTG	0.557																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2182-2184)aGg>aAg		ubiquitin specific peptidase 19							89.0	89.0	89.0					3																	49152269		2138	4248	6386	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152269C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1910G>A	3.37:g.49152269C>T	ENSP00000381863:p.Arg637Lys					USP19_ENST00000417901.1_Missense_Mutation_p.R740K|USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000398896.1_Missense_Mutation_p.R445K|USP19_ENST00000398888.2_Missense_Mutation_p.R637K|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K	p.R728K	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	15	2501	-			637					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.2183G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	37	6.013981	0.97200	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.81	5.81	0.92471	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.81942	2.565	0.80722	D	1	D;D;D;P;D	0.61697	0.99;0.99;0.978;0.927;0.978	D;D;D;D;D	0.75484	0.986;0.986;0.978;0.953;0.978	T	0.63963	-0.6518	10	0.87932	D	0	-22.8041	20.0726	0.97729	0.0:1.0:0.0:0.0	.	738;728;637;677;445	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	K	445;677;740;728;677;637;738	ENSP00000381870:R445K;ENSP00000381872:R677K;ENSP00000395260:R740K;ENSP00000400090:R728K;ENSP00000381867:R677K;ENSP00000381863:R637K;ENSP00000401197:R738K	ENSP00000381863:R637K	R	-	2	0	USP19	49127273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.751000	0.85126	2.738000	0.93877	0.655000	0.94253	AGG		0.557	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		10	303	0	0	0	1	0	10	303				
STRN	6801	broad.mit.edu	37	2	37082439	37082439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37082439C>T	ENST00000263918.4	-	15	1902	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T	STRN_ENST00000379213.2_Missense_Mutation_p.A583T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	632					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGAATGATGCTACCATATGG	0.388																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1894-1896)Gca>Aca		striatin, calmodulin binding protein							165.0	140.0	149.0					2																	37082439		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37082439C>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1894G>A	2.37:g.37082439C>T	ENSP00000263918:p.Ala632Thr					STRN_ENST00000379213.2_Missense_Mutation_p.A583T	p.A632T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			15	1902	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	632					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.1894G>A	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213098	0.39102	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.26810	1.71;1.71	5.21	3.4	0.38934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.172324	0.53938	D	0.000053	T	0.16599	0.0399	N	0.26092	0.79	0.48040	D	0.999572	B;B	0.19817	0.028;0.039	B;B	0.20577	0.03;0.027	T	0.06232	-1.0838	10	0.15952	T	0.53	-14.2069	11.193	0.48696	0.0:0.8504:0.0:0.1496	.	583;632	O43815-2;O43815	.;STRN_HUMAN	T	632;607;583	ENSP00000263918:A632T;ENSP00000368513:A583T	ENSP00000263918:A632T	A	-	1	0	STRN	36935943	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.429000	0.34903	0.577000	0.29470	0.591000	0.81541	GCA		0.388	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			43	204	0	0	0	1	0	43	204				
MKS1	54903	broad.mit.edu	37	17	56292170	56292170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56292170G>A	ENST00000393119.2	-	5	521	c.447C>T	c.(445-447)agC>agT	p.S149S	MKS1_ENST00000537529.2_Silent_p.S139S|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000546108.1_Intron|MKS1_ENST00000313863.6_Silent_p.S149S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	149					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGGCACCTCGCTGGCTGCAG	0.592																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(445-447)agC>agT		Meckel syndrome, type 1							44.0	46.0	46.0					17																	56292170		2109	4229	6338	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56292170G>A	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.447C>T	17.37:g.56292170G>A						MKS1_ENST00000537529.2_Silent_p.S139S|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000313863.6_Silent_p.S149S|MKS1_ENST00000546108.1_Intron	p.S149S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			5	521	-			149					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.447C>T	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431037	0.43122	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.28699	N	0.90415	.	.	.	.	.	.	T	0.11372	-1.0590	4	.	.	.	-9.958	8.0798	0.30737	0.6261:0.2194:0.0836:0.0709	.	.	.	.	V	150	.	.	A	-	2	0	MKS1	53647169	0.000000	0.05858	0.032000	0.17829	0.813000	0.45954	-3.171000	0.00573	-2.873000	0.00322	-0.366000	0.07423	GCG		0.592	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		15	113	0	0	0	1	0	15	113				
XRN2	22803	broad.mit.edu	37	20	21306927	21306927	+	Missense_Mutation	SNP	G	G	A	rs373315919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21306927G>A	ENST00000377191.3	+	2	181	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	XRN2_ENST00000430571.2_Intron|XRN2_ENST00000539513.1_5'UTR	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	29					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAAAAGAATGCAATGGTGTA	0.343																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(85-87)tGc>tAc		5'-3' exoribonuclease 2		G	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	107.0	100.0	102.0		86	4.6	1.0	20		102	0,8600		0,0,4300	no	missense	XRN2	NM_012255.3	194	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	29/951	21306927	1,13005	2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21306927G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.86G>A	20.37:g.21306927G>A	ENSP00000366396:p.Cys29Tyr					XRN2_ENST00000539513.1_5'UTR|XRN2_ENST00000430571.2_Intron	p.C29Y	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			2	181	+			29					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.86G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683201	0.14907	2.27E-4	0.0	ENSG00000088930	ENST00000377191	T	0.29397	1.57	5.62	4.64	0.57946	Putative 5-3 exonuclease (1);	0.042575	0.85682	D	0.000000	T	0.16128	0.0388	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.07616	-1.0763	10	0.09590	T	0.72	-12.7852	15.9854	0.80147	0.0:0.0:0.8651:0.1349	.	29	Q9H0D6	XRN2_HUMAN	Y	29	ENSP00000366396:C29Y	ENSP00000366396:C29Y	C	+	2	0	XRN2	21254927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.266000	0.65525	2.648000	0.89879	0.650000	0.86243	TGC		0.343	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		33	173	0	0	0	1	0	33	173				
ZSCAN10	84891	broad.mit.edu	37	16	3139531	3139531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3139531C>T	ENST00000252463.2	-	5	1826	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	580					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTCGCTGCAGCGGCAGGGCTT	0.721																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1738-1740)cGc>cAc		zinc finger and SCAN domain containing 10							13.0	14.0	13.0					16																	3139531		2186	4268	6454	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139531C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1739G>A	16.37:g.3139531C>T	ENSP00000252463:p.Arg580His					ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H	p.R580H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1826	-			580					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1739G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894870	0.52121	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.37411	1.2	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.136846	0.34067	N	0.004290	T	0.40040	0.1101	N	0.16708	0.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.63703	0.917;0.916;0.877	T	0.33879	-0.9851	10	0.62326	D	0.03	-34.0564	11.6059	0.51031	0.1779:0.8221:0.0:0.0	.	241;513;580	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	513;580	ENSP00000252463:R580H	ENSP00000252463:R580H	R	-	2	0	ZSCAN10	3079532	0.000000	0.05858	1.000000	0.80357	0.900000	0.52787	-1.643000	0.02004	2.504000	0.84457	0.561000	0.74099	CGC		0.721	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		27	138	0	0	0	1	0	27	138				
IGSF21	84966	broad.mit.edu	37	1	18692065	18692065	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18692065G>A	ENST00000251296.1	+	6	1272	c.889G>A	c.(889-891)Ggc>Agc	p.G297S		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	297						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGCAGTGACGGCACTGTGGA	0.632																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(889-891)Ggc>Agc		immunoglobin superfamily, member 21							113.0	97.0	103.0					1																	18692065		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18692065G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.889G>A	1.37:g.18692065G>A	ENSP00000251296:p.Gly297Ser						p.G297S	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1272	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	297					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.889G>A	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.067283|5.067283	0.93898|0.93898	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000251296|ENST00000412684	T|.	0.62232|.	0.04|.	4.28|4.28	4.28|4.28	0.50868|0.50868	Immunoglobulin-like fold (1);|.	0.047421|.	0.85682|.	D|.	0.000000|.	T|T	0.55210|0.55210	0.1906|0.1906	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.51616|0.51616	-0.8683|-0.8683	10|5	0.25751|.	T|.	0.34|.	-6.8934|-6.8934	15.7859|15.7859	0.78304|0.78304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297|.	Q96ID5|.	IGS21_HUMAN|.	S|Q	297|249	ENSP00000251296:G297S|.	ENSP00000251296:G297S|.	G|R	+|+	1|2	0|0	IGSF21|IGSF21	18564652|18564652	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.917000|0.917000	0.54804|0.54804	8.821000|8.821000	0.92009|0.92009	2.383000|2.383000	0.81215|0.81215	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.632	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		135	527	0	0	0	1	0	135	527				
TEAD1	7003	broad.mit.edu	37	11	12901216	12901216	+	Missense_Mutation	SNP	C	C	T	rs374937210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12901216C>T	ENST00000526600.1	+	1	227	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527575.1_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGTAGCCATGCGTTATGTATT	0.483																																						ENST00000526600.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(4-6)Cgt>Tgt		TEA domain family member 1 (SV40 transcriptional enhancer factor)							68.0	58.0	61.0					11																	12901216		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12901216C>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.4C>T	11.37:g.12901216C>T	ENSP00000435393:p.Arg2Cys					TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000334310.6_Intron	p.R2C			P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	1	227	+			0					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.4C>T		.	.	.	.	.	.	.	.	.	.	C	7.230	0.599157	0.13939	.	.	ENSG00000187079	ENST00000526600	T	0.56444	0.46	6.06	-4.89	0.03103	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	8	0.87932	D	0	.	2.6722	0.05070	0.0975:0.3874:0.1928:0.3224	.	2	E9PKB7	.	C	2	ENSP00000435393:R2C	ENSP00000435393:R2C	R	+	1	0	TEAD1	12857792	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-0.221000	0.09202	-0.826000	0.04284	0.655000	0.94253	CGT		0.483	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		7	291	0	0	0	1	0	7	291				
ZNF433	163059	broad.mit.edu	37	19	12125782	12125782	+	Nonsense_Mutation	SNP	G	G	A	rs201271699	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125782G>A	ENST00000344980.6	-	4	2070	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Nonsense_Mutation_p.R599*	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	634					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CCATGCCTTCGAAGGTTTGAG	0.443													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22100	0.0		0.0	False		,,,				2504	0.0					ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1795-1797)Cga>Tga		zinc finger protein 433		G	stop/ARG	5,4395	8.1+/-20.4	0,5,2195	82.0	86.0	85.0		1900	-2.7	0.0	19		85	0,8600		0,0,4300	no	stop-gained	ZNF433	NM_001080411.1		0,5,6495	AA,AG,GG		0.0,0.1136,0.0385		634/674	12125782	5,12995	2200	4300	6500	SO:0001587	stop_gained	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125782G>A	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1900C>T	19.37:g.12125782G>A	ENSP00000339767:p.Arg634*					CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Nonsense_Mutation_p.R634*|CTD-2006C1.2_ENST00000495324.1_RNA	p.R599*			Q8N7K0	ZN433_HUMAN			5	2086	-			634					Q86VX3	Nonsense_Mutation	SNP	ENST00000344980.6	37	c.1795C>T	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	36	5.838562	0.97009	0.001136	0.0	ENSG00000197647	ENST00000419886;ENST00000344980	.	.	.	1.35	-2.71	0.05986	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	0.4753	0.00538	0.2561:0.1476:0.3216:0.2746	.	.	.	.	X	599;634	.	ENSP00000339767:R634X	R	-	1	2	ZNF433	11986782	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-2.246000	0.01191	-1.887000	0.01115	0.313000	0.20887	CGA		0.443	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		63	283	0	0	0	1	0	63	283				
ZNF337	26152	broad.mit.edu	37	20	25657080	25657080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25657080G>A	ENST00000376436.1	-	4	1383	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTCTCATGCACAGTGAGG	0.502																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(844-846)Cat>Tat		zinc finger protein 337							180.0	168.0	172.0					20																	25657080		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25657080G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.844C>T	20.37:g.25657080G>A	ENSP00000365619:p.His282Tyr					RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|RP4-694B14.5_ENST00000439498.1_RNA	p.H282Y							4	1383	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.844C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.244414	0.79912	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	D;D;D	0.86769	-2.17;-2.17;-2.17	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94892	0.8349	H	0.97983	4.12	0.30488	N	0.77168	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.941	D	0.89548	0.3797	9	0.87932	D	0	.	8.2365	0.31629	0.0:0.0:1.0:0.0	.	250;282	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	Y	282;282;282;250	ENSP00000365619:H282Y;ENSP00000252979:H282Y;ENSP00000442181:H250Y	ENSP00000252979:H282Y	H	-	1	0	ZNF337	25605080	0.998000	0.40836	0.046000	0.18839	0.954000	0.61252	3.871000	0.56077	0.935000	0.37341	0.306000	0.20318	CAT		0.502	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			154	711	0	0	0	1	0	154	711				
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	T	A	rs112113280	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52942423T>A	ENST00000332323.6	+	4	1810	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.N570K|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438													T|||	4	0.000798722	0.0	0.0	5008	,	,		21602	0.0		0.004	False		,,,				2504	0.0					ENST00000332323.6																			2	Substitution - Missense(2)	p.N583K(2)	prostate(1)|kidney(1)	central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1747-1749)aaT>aaA		zinc finger protein 534							71.0	68.0	69.0					19																	52942423		692	1591	2283	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942423T>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1749T>A	19.37:g.52942423T>A	ENSP00000327538:p.Asn583Lys					ZNF534_ENST00000433050.1_Missense_Mutation_p.N570K|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	p.N583K	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1810	+			583					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.1749T>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	T	7.949	0.744393	0.15710	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.12569	2.67;2.67	1.73	-3.46	0.04767	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.00507	-1.42	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.001;0.004	T	0.36939	-0.9727	9	0.42905	T	0.14	.	2.4785	0.04581	0.3558:0.0:0.2693:0.3748	.	570;583	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	K	583;570;582	ENSP00000327538:N583K;ENSP00000391358:N570K	ENSP00000327538:N583K	N	+	3	2	ZNF534	57634235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.588000	0.00422	-1.795000	0.01255	-0.898000	0.02899	AAT		0.438	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		4	94	0	0	0	1	0	4	94				
CROT	54677	broad.mit.edu	37	7	87004992	87004992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87004992G>T	ENST00000331536.3	+	8	886	c.701G>T	c.(700-702)gGa>gTa	p.G234V	CROT_ENST00000442291.1_Missense_Mutation_p.G234V|CROT_ENST00000419147.2_Missense_Mutation_p.G262V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	234					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAACCTGATGGACCTGGGATT	0.383																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(700-702)gGa>gTa		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						144.0	132.0	136.0					7																	87004992		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87004992G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.701G>T	7.37:g.87004992G>T	ENSP00000331981:p.Gly234Val					CROT_ENST00000442291.1_Missense_Mutation_p.G234V|CROT_ENST00000419147.2_Missense_Mutation_p.G262V	p.G234V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			8	886	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		234					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.701G>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735886	0.89482	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90004	-2.6;-2.6;-2.6	6.02	6.02	0.97574	.	0.046628	0.85682	D	0.000000	D	0.95642	0.8583	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.983	D	0.94444	0.7661	10	0.34782	T	0.22	-26.1183	18.7212	0.91694	0.0:0.0:1.0:0.0	.	262;234	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	262;234;234	ENSP00000413575:G262V;ENSP00000331981:G234V;ENSP00000411983:G234V	ENSP00000331981:G234V	G	+	2	0	CROT	86842928	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	7.890000	0.87313	2.865000	0.98341	0.655000	0.94253	GGA		0.383	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		42	381	1	0	3.76604e-16	1	4.1305e-16	42	381				
KIF1A	547	broad.mit.edu	37	2	241656817	241656817	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241656817C>A	ENST00000320389.7	-	47	5195	c.5037G>T	c.(5035-5037)aaG>aaT	p.K1679N	KIF1A_ENST00000498729.2_Missense_Mutation_p.K1780N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1679					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCTGGAGAGCTTGGACCTGC	0.662																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5338-5340)aaG>aaT		kinesin family member 1A							57.0	71.0	67.0					2																	241656817		2085	4207	6292	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241656817C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.5037G>T	2.37:g.241656817C>A	ENSP00000322791:p.Lys1679Asn					KIF1A_ENST00000320389.7_Missense_Mutation_p.K1679N	p.K1780N	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	49	5586	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1679					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5340G>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086776	0.76642	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.75154	-0.83;-0.91	4.47	3.57	0.40892	.	0.114821	0.56097	U	0.000025	D	0.82806	0.5117	M	0.70275	2.135	0.47214	D	0.999357	D;D	0.76494	0.984;0.999	P;D	0.78314	0.844;0.991	D	0.84048	0.0368	10	0.87932	D	0	.	9.8734	0.41189	0.0:0.8329:0.0:0.1671	.	1780;1679	F5H045;Q12756	.;KIF1A_HUMAN	N	1679;1780;1788	ENSP00000322791:K1679N;ENSP00000438388:K1780N	ENSP00000322791:K1679N	K	-	3	2	KIF1A	241305490	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.958000	0.40402	2.189000	0.69895	0.563000	0.77884	AAG		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		106	386	1	0	1.15629e-50	1	1.43295e-50	106	386				
APBA1	320	broad.mit.edu	37	9	72131056	72131056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72131056G>A	ENST00000265381.4	-	2	1293	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	357					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTCCTCGATGGCCTCCT	0.662																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1069-1071)atC>atT		amyloid beta (A4) precursor protein-binding, family A, member 1							125.0	94.0	105.0					9																	72131056		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131056G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1071C>T	9.37:g.72131056G>A							p.I357I	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1293	-			357					O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1071C>T	CCDS6630.1																																																																																				0.662	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		84	446	0	0	0	1	0	84	446				
PCBP3	54039	broad.mit.edu	37	21	47330914	47330914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47330914C>T	ENST00000400314.1	+	9	908	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400310.1_Silent_p.C190C|PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	190					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCATCCAGTGCGTCAAGCAGA	0.642																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(568-570)tgC>tgT		poly(rC) binding protein 3							89.0	96.0	94.0					21																	47330914		2184	4283	6467	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47330914C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.570C>T	21.37:g.47330914C>T						PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C|PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400310.1_Silent_p.C190C|PCBP3_ENST00000468429.1_3'UTR	p.C190C			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	9	908	+	all_hematologic(128;0.24)		190					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.570C>T	CCDS42974.2																																																																																				0.642	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			65	261	0	0	0	1	0	65	261				
HERC2	8924	broad.mit.edu	37	15	28357165	28357165	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28357165T>C	ENST00000261609.7	-	93	14357	c.14249A>G	c.(14248-14250)aAc>aGc	p.N4750S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCTGGAGGGTTGTATTTATC	0.473																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(14248-14250)aAc>aGc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							82.0	71.0	75.0					15																	28357165		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28357165T>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14249A>G	15.37:g.28357165T>C	ENSP00000261609:p.Asn4750Ser						p.N4750S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	93	14357	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4750			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.14249A>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027429	0.75390	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	5.84	4.72	0.59763	HECT (4);	0.045918	0.85682	N	0.000000	T	0.46658	0.1404	L	0.27053	0.805	0.80722	D	1	P;B	0.49090	0.919;0.034	P;B	0.60173	0.87;0.038	T	0.40098	-0.9581	10	0.46703	T	0.11	.	11.797	0.52106	0.0:0.0683:0.0:0.9317	.	4750;439	O95714;Q8ND39	HERC2_HUMAN;.	S	4750	ENSP00000261609:N4750S	ENSP00000261609:N4750S	N	-	2	0	HERC2	26030760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.519000	0.53458	1.039000	0.40074	0.533000	0.62120	AAC		0.473	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		33	341	0	0	0	1	0	33	341				
ZNF490	57474	broad.mit.edu	37	19	12694290	12694290	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12694290G>A	ENST00000311437.6	-	3	365	c.243C>T	c.(241-243)atC>atT	p.I81I	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CATCTCTGTAGATATTCCTCT	0.488																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(241-243)atC>atT		zinc finger protein 490							116.0	113.0	114.0					19																	12694290		2203	4300	6503	SO:0001819	synonymous_variant	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12694290G>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.243C>T	19.37:g.12694290G>A							p.I81I	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			3	365	-			81			KRAB.			Silent	SNP	ENST00000311437.6	37	c.243C>T	CCDS12272.1																																																																																				0.488	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		26	561	0	0	0	1	0	26	561				
C9orf3	84909	broad.mit.edu	37	9	97563133	97563133	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97563133C>A	ENST00000375315.2	+	4	1213	c.1213C>A	c.(1213-1215)Cct>Act	p.P405T	C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T|C9orf3_ENST00000297979.5_Missense_Mutation_p.P405T|C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	405					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTTGCCCCTGTGTGCCT	0.582																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1213-1215)Cct>Act		chromosome 9 open reading frame 3							95.0	83.0	87.0					9																	97563133		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97563133C>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1213C>A	9.37:g.97563133C>A	ENSP00000364464:p.Pro405Thr					C9orf3_ENST00000297979.5_Missense_Mutation_p.P405T|C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T|C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T	p.P405T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	4	1213	+			405					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.1213C>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062172	0.55432	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000395357	T;T;T;T;T;T	0.04970	4.31;3.52;3.52;3.52;3.52;4.31	5.28	5.28	0.74379	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.76575	0.948;0.967;0.988;0.956	T	0.00070	-1.2134	10	0.37606	T	0.19	-11.1188	12.4307	0.55573	0.0:0.924:0.0:0.076	.	405;405;405;405	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	T	405;405;405;228;187;25	ENSP00000277198:P405T;ENSP00000297979:P405T;ENSP00000364464:P405T;ENSP00000402171:P228T;ENSP00000401854:P187T;ENSP00000378763:P25T	ENSP00000277198:P405T	P	+	1	0	C9orf3	96602954	1.000000	0.71417	0.998000	0.56505	0.250000	0.25880	3.533000	0.53561	2.747000	0.94245	0.650000	0.86243	CCT		0.582	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		62	378	1	0	3.21867e-24	1	3.67736e-24	62	378				
FANCD2	2177	broad.mit.edu	37	3	10107141	10107141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10107141G>A	ENST00000419585.1	+	24	2393	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000383807.1_Silent_p.Q744Q|FANCD2_ENST00000287647.3_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2230-2232)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							178.0	177.0	177.0					3																	10107141		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107141G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2232G>A	3.37:g.10107141G>A						FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000419585.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q	p.Q744Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	24	2325	+			744					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.2232G>A	CCDS33696.1																																																																																				0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			101	455	0	0	0	1	0	101	455				
TCEB3B	51224	broad.mit.edu	37	18	44560824	44560824	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44560824G>T	ENST00000332567.4	-	1	1164	c.812C>A	c.(811-813)gCc>gAc	p.A271D	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	271					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGTCCCTGGCACTTGCCCA	0.607																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(811-813)gCc>gAc		transcription elongation factor B polypeptide 3B (elongin A2)							77.0	83.0	81.0					18																	44560824		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560824G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.812C>A	18.37:g.44560824G>T	ENSP00000331302:p.Ala271Asp					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A271D	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1164	-			271					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.812C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727164	0.30593	.	.	ENSG00000206181	ENST00000332567	T	0.08896	3.04	1.95	-0.817	0.10836	.	1.007460	0.08007	U	0.989744	T	0.07908	0.0198	N	0.24115	0.695	0.09310	N	1	P	0.47604	0.898	P	0.46685	0.524	T	0.41627	-0.9498	10	0.36615	T	0.2	.	8.5403	0.33388	0.0:0.6645:0.3355:0.0	.	271	Q8IYF1	ELOA2_HUMAN	D	271	ENSP00000331302:A271D	ENSP00000331302:A271D	A	-	2	0	TCEB3B	42814822	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.334000	0.19787	-0.232000	0.09811	0.462000	0.41574	GCC		0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		28	821	1	0	1.7881e-09	1	1.88299e-09	28	821				
ADRB1	153	broad.mit.edu	37	10	115805121	115805121	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115805121C>T	ENST00000369295.2	+	1	1316	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	410					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	ACCGGCCGCGCGCCTCGGGCT	0.796																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(1228-1230)cgC>cgT		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						3.0	4.0	3.0					10																	115805121		1159	2281	3440	SO:0001819	synonymous_variant	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115805121C>T	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1230C>T	10.37:g.115805121C>T							p.R410R	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	1316	+		Colorectal(252;0.172)|Breast(234;0.188)	410					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	ENST00000369295.2	37	c.1230C>T	CCDS7586.1																																																																																				0.796	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			10	33	0	0	0	1	0	10	33				
OLFM2	93145	broad.mit.edu	37	19	9965432	9965432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965432C>T	ENST00000264833.4	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	OLFM2_ENST00000590841.1_Silent_p.P187P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	265	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGCCCGCCCACGGCTGGGGCA	0.582																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(793-795)ccG>ccA		olfactomedin 2							42.0	42.0	42.0					19																	9965432		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9965432C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.795G>A	19.37:g.9965432C>T						OLFM2_ENST00000590841.1_Silent_p.P187P	p.P265P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	980	-			265			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.795G>A	CCDS12221.1																																																																																				0.582	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			32	118	0	0	0	1	0	32	118				
TTN	7273	broad.mit.edu	37	2	179485684	179485684	+	Missense_Mutation	SNP	C	C	T	rs548035065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485684C>T	ENST00000591111.1	-	197	40954	c.40730G>A	c.(40729-40731)cGg>cAg	p.R13577Q	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6278Q|TTN_ENST00000460472.2_Missense_Mutation_p.R6153Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6345Q|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15218Q|TTN_ENST00000342992.6_Missense_Mutation_p.R12650Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13577	Ig-like 92.				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)			TTCCTTCACCCGGGTGTCCTT	0.373													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19618	0.0		0.0	False		,,,				2504	0.0					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.(45652-45654)cGg>cAg		titin							76.0	71.0	73.0					2																	179485684		1850	4085	5935	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485684C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40730G>A	2.37:g.179485684C>T	ENSP00000465570:p.Arg13577Gln					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6278Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12650Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6153Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6345Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13577Q	p.R15218Q	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)		247	45877	-			13577			Fibronectin type-III 11.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.45653G>A		.	.	.	.	.	.	.	.	.	.	C	13.47	2.247307	0.39697	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.83	4.01	0.46588	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41259	0.1151	N	0.04063	-0.285	0.23940	N	0.996405	B;B;B;B	0.13145	0.002;0.002;0.007;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.30822	-0.9965	9	0.87932	D	0	.	4.3072	0.10953	0.0:0.5462:0.1731:0.2808	.	6153;6278;6345;13577	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12650;6153;6345;6278;6153	ENSP00000343764:R12650Q;ENSP00000434586:R6153Q;ENSP00000340554:R6345Q;ENSP00000352154:R6278Q	ENSP00000340554:R6345Q	R	-	2	0	TTN	179193929	1.000000	0.71417	0.929000	0.37066	0.997000	0.91878	3.339000	0.52135	0.778000	0.33520	0.655000	0.94253	CGG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	260	0	0	0	1	0	6	260				
AP2M1	1173	broad.mit.edu	37	3	183899752	183899752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183899752C>T	ENST00000292807.5	+	9	1028	c.880C>T	c.(880-882)Cga>Tga	p.R294*	AP2M1_ENST00000382456.3_Nonsense_Mutation_p.R292*|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|EIF2B5_ENST00000444495.1_Intron	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	294	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTAGTGCGAGAAGTGGG	0.542																																						ENST00000382456.3																			0				endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(874-876)Cga>Tga		adaptor-related protein complex 2, mu 1 subunit							59.0	59.0	59.0					3																	183899752		2053	4194	6247	SO:0001587	stop_gained	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183899752C>T	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.880C>T	3.37:g.183899752C>T	ENSP00000292807:p.Arg294*					AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|AP2M1_ENST00000292807.5_Nonsense_Mutation_p.R294*	p.R292*	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1188	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		294			MHD.		A6NE12|D3DNT1|P20172|P53679	Nonsense_Mutation	SNP	ENST00000292807.5	37	c.874C>T	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	C	37	6.409621	0.97542	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	292;319;294;234;279;292;223	.	ENSP00000292807:R294X	R	+	1	2	AP2M1	185382446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.259000	0.43259	2.793000	0.96121	0.655000	0.94253	CGA		0.542	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		40	153	0	0	0	1	0	40	153				
MAPKBP1	23005	broad.mit.edu	37	15	42117590	42117590	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42117590C>T	ENST00000456763.2	+	32	4697	c.4501C>T	c.(4501-4503)Ctg>Ttg	p.L1501L	MAPKBP1_ENST00000457542.2_Silent_p.L1495L|MAPKBP1_ENST00000260357.7_Silent_p.L1334L|JMJD7_ENST00000397299.4_5'Flank|JMJD7_ENST00000408047.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|MAPKBP1_ENST00000514566.1_Silent_p.L1218L|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank|PLA2G4B_ENST00000542534.2_5'Flank|MAPKBP1_ENST00000221214.6_Silent_p.L1378L	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1501										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATACTCAGAACTGTTGCTTCG	0.602																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4483-4485)Ctg>Ttg		mitogen-activated protein kinase binding protein 1							37.0	37.0	37.0					15																	42117590		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42117590C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4501C>T	15.37:g.42117590C>T						MAPKBP1_ENST00000514566.1_Silent_p.L1218L|MAPKBP1_ENST00000260357.7_Silent_p.L1334L|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.L1378L|MAPKBP1_ENST00000456763.2_Silent_p.L1501L	p.L1495L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	31	4769	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1501					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.4483C>T	CCDS45239.1																																																																																				0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		36	200	0	0	0	1	0	36	200				
IQCF2	389123	broad.mit.edu	37	3	51897380	51897380	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51897380C>T	ENST00000333127.3	+	3	518	c.489C>T	c.(487-489)aaC>aaT	p.N163N	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	163										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATCATCAACTCCTAAGGGC	0.552																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(487-489)aaC>aaT		IQ motif containing F2							87.0	85.0	86.0					3																	51897380		2203	4300	6503	SO:0001819	synonymous_variant	389123							g.chr3:51897380C>T	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.489C>T	3.37:g.51897380C>T						IQCF2_ENST00000429548.1_3'UTR	p.N163N	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	518	+			163						Silent	SNP	ENST00000333127.3	37	c.489C>T	CCDS2835.1																																																																																				0.552	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		91	428	0	0	0	1	0	91	428				
TRIP6	7205	broad.mit.edu	37	7	100465482	100465482	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100465482G>T	ENST00000200457.4	+	2	469		c.e2-1			NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6						focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAACCCAGCACTCCAGCC	0.632																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.e2-1		thyroid hormone receptor interactor 6							72.0	86.0	81.0					7																	100465482		2202	4300	6502	SO:0001630	splice_region_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100465482G>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.110-1G>T	7.37:g.100465482G>T								NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			2	469	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Splice_Site	SNP	ENST00000200457.4	37		CCDS5708.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236992	0.58886	.	.	ENSG00000087077	ENST00000200457	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6449	0.56729	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIP6	100303418	0.997000	0.39634	0.994000	0.49952	0.848000	0.48234	2.957000	0.49137	2.372000	0.80975	0.561000	0.74099	.		0.632	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302	Intron	154	791	1	0	5.13159e-70	1	6.51657e-70	154	791				
TRIO	7204	broad.mit.edu	37	5	14336699	14336699	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336699A>G	ENST00000344204.4	+	11	1933	c.1909A>G	c.(1909-1911)Act>Gct	p.T637A	TRIO_ENST00000537187.1_Missense_Mutation_p.T637A|TRIO_ENST00000509967.2_Missense_Mutation_p.T588A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	637					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGCTCAGACTGGGGAATG	0.483																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1909-1911)Act>Gct		trio Rho guanine nucleotide exchange factor							98.0	91.0	93.0					5																	14336699		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14336699A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1909A>G	5.37:g.14336699A>G	ENSP00000339299:p.Thr637Ala					TRIO_ENST00000509967.2_Missense_Mutation_p.T588A|TRIO_ENST00000537187.1_Missense_Mutation_p.T637A	p.T637A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			11	1933	+	Lung NSC(4;0.000742)		637					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1909A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717746	0.68844	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.44083	1.03;1.03;0.93	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	L	0.35593	1.075	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.992	D;D;D	0.79784	0.983;0.993;0.989	T	0.56944	-0.7895	10	0.62326	D	0.03	.	15.0232	0.71647	1.0:0.0:0.0:0.0	.	588;637;637	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	637;637;588;324	ENSP00000339299:T637A;ENSP00000446348:T637A;ENSP00000445592:T588A	ENSP00000339299:T637A	T	+	1	0	TRIO	14389699	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.339000	0.96797	1.946000	0.56461	0.454000	0.30748	ACT		0.483	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		66	262	0	0	0	1	0	66	262				
MEDAG	84935	broad.mit.edu	37	13	31491584	31491584	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31491584A>G	ENST00000380482.4	+	2	648	c.323A>G	c.(322-324)gAa>gGa	p.E108G	TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	108					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											GACTACAGGGAAACTATATTG	0.343																																						ENST00000380482.4																			0											c.(322-324)gAa>gGa		mesenteric estrogen-dependent adipogenesis							139.0	136.0	137.0					13																	31491584		2203	4300	6503	SO:0001583	missense	84935							g.chr13:31491584A>G	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.323A>G	13.37:g.31491584A>G	ENSP00000369849:p.Glu108Gly					TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	p.E108G	NM_032849.3	NP_116238.2					2	648	+								Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	ENST00000380482.4	37	c.323A>G	CCDS9338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.075538|4.075538	0.76415|0.76415	.|.	.|.	ENSG00000102802|ENSG00000102802	ENST00000380482|ENST00000428944	T|.	0.51325|.	0.71|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.213853|.	0.48286|.	D|.	0.000193|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.29908|0.29908	0.895|0.895	0.38727|0.38727	D|D	0.953585|0.953585	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.54846|0.54846	-0.8232|-0.8232	10|5	0.72032|.	D|.	0.01|.	-12.3709|-12.3709	13.2421|13.2421	0.60002|0.60002	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	108|.	Q5VYS4|.	CM033_HUMAN|.	G|E	108|45	ENSP00000369849:E108G|.	ENSP00000369849:E108G|.	E|K	+|+	2|1	0|0	C13orf33|C13orf33	30389584|30389584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	5.115000|5.115000	0.64655|0.64655	2.113000|2.113000	0.64589|0.64589	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.343	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		58	257	0	0	0	1	0	58	257				
NPAP1	23742	broad.mit.edu	37	15	24922482	24922482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922482G>T	ENST00000329468.2	+	1	1942	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	490	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGTCGTAGGAGCAGCGCCTCT	0.517																																						ENST00000329468.2																			0											c.(1468-1470)Gca>Tca		nuclear pore associated protein 1							193.0	203.0	199.0					15																	24922482		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922482G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1468G>T	15.37:g.24922482G>T	ENSP00000333735:p.Ala490Ser						p.A490S	NM_018958.2	NP_061831.2					1	1942	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1468G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.005	0.981128	0.18812	.	.	ENSG00000185823	ENST00000329468	T	0.06218	3.33	2.07	0.943	0.19531	.	1.499650	0.04447	N	0.371857	T	0.05273	0.0140	N	0.22421	0.69	0.09310	N	1	P	0.47962	0.903	P	0.46885	0.53	T	0.27020	-1.0086	10	0.06365	T	0.9	.	3.0048	0.06025	0.4784:0.0:0.5216:0.0	.	490	Q9NZP6	CO002_HUMAN	S	490	ENSP00000333735:A490S	ENSP00000333735:A490S	A	+	1	0	C15orf2	22473575	0.003000	0.15002	0.002000	0.10522	0.027000	0.11550	0.214000	0.17541	0.285000	0.22329	0.313000	0.20887	GCA		0.517	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		231	1054	1	0	9.35327e-79	1	1.19482e-78	231	1054				
ADAMTS12	81792	broad.mit.edu	37	5	33641986	33641986	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33641986T>C	ENST00000504830.1	-	11	1982	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	ADAMTS12_ENST00000352040.3_Silent_p.S549S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	549	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGACCAGGGTGACCAGCGGC	0.572										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1645-1647)tcA>tcG		ADAM metallopeptidase with thrombospondin type 1 motif, 12							60.0	57.0	58.0					5																	33641986		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33641986T>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1647A>G	5.37:g.33641986T>C		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.S549S	p.S549S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			11	1982	-			549			TSP type-1 1.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1647A>G	CCDS34140.1																																																																																				0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		48	267	0	0	0	1	0	48	267				
RABGEF1	27342	broad.mit.edu	37	7	66270342	66270342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66270342C>T	ENST00000284957.5	+	8	1113	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|KCTD7_ENST00000380828.2_Nonsense_Mutation_p.R386*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	563					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCAAGCCGACTGATGAC	0.498																																						ENST00000380828.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(1156-1158)Cga>Tga		potassium channel tetramerization domain containing 7							101.0	88.0	93.0					7																	66270342		2203	4300	6503	SO:0001587	stop_gained	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66270342C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1036C>T	7.37:g.66270342C>T	ENSP00000284957:p.Arg346*					RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000284957.5_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000484547.2_3'UTR	p.R386*			Q96MP8	KCTD7_HUMAN			10	1310	+			0					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Nonsense_Mutation	SNP	ENST00000284957.5	37	c.1156C>T	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971006	0.97971	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4757	12.27	0.54700	0.2678:0.7322:0.0:0.0	.	.	.	.	X	430;386;346;346;262;346;346;359;360	.	ENSP00000370207:R430X	R	+	1	2	RABGEF1;KCTD7	65907777	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.726000	0.38085	2.643000	0.89663	0.655000	0.94253	CGA		0.498	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		41	387	0	0	0	1	0	41	387				
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T	rs199510054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	118					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(352-354)Gcc>Acc		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						121.0	112.0	115.0					2																	75425709		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425709C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.352G>A	2.37:g.75425709C>T	ENSP00000303522:p.Ala118Thr					TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	1117	-			118					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.352G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	TACR1	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC		0.498	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		61	381	0	0	0	1	0	61	381				
ZFPL1	7542	broad.mit.edu	37	11	64855532	64855532	+	Silent	SNP	C	C	T	rs143603280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64855532C>T	ENST00000294258.3	+	8	1031	c.879C>T	c.(877-879)agC>agT	p.S293S	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	293					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CAGCTGACAGCGATCCCAACC	0.667																																						ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(877-879)agC>agT		zinc finger protein-like 1		C		0,4402		0,0,2201	90.0	88.0	89.0		879	-2.1	1.0	11	dbSNP_134	89	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ZFPL1	NM_006782.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		293/311	64855532	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64855532C>T		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.879C>T	11.37:g.64855532C>T							p.S293S	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN			8	1031	+			293					A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	c.879C>T	CCDS8092.1																																																																																				0.667	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		134	722	0	0	0	1	0	134	722				
PARPBP	55010	broad.mit.edu	37	12	102576327	102576327	+	Splice_Site	SNP	G	G	A	rs74958875		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102576327G>A	ENST00000358383.5	+	9	1230	c.1185G>A	c.(1183-1185)agG>agA	p.R395R	PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000541394.1_Splice_Site_p.R472R|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000392911.2_Splice_Site_p.R314R|PARPBP_ENST00000327680.2_Splice_Site_p.R314R|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	395					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R314S(1)|p.R395S(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTTGACATAGGTCTCCCACAC	0.343																																						ENST00000327680.2																			2	Substitution - Missense(2)	p.R314S(1)|p.R395S(1)	lung(2)	endometrium(1)|lung(8)|urinary_tract(2)	11						c.e10-1		PARP1 binding protein							40.0	41.0	41.0					12																	102576327		2203	4299	6502	SO:0001630	splice_region_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102576327G>A	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1185-1G>A	12.37:g.102576327G>A						PARPBP_ENST00000358383.5_Splice_Site_p.R395_splice|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000392911.2_Splice_Site_p.R314_splice|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Splice_Site_p.R472_splice|PARPBP_ENST00000535811.1_Intron	p.R314_splice	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			10	1405	+			395					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Splice_Site	SNP	ENST00000358383.5	37	c.941_splice	CCDS9090.2																																																																																				0.343	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915	Silent	22	74	0	0	0	1	0	22	74				
ASPM	259266	broad.mit.edu	37	1	197073218	197073218	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073218C>A	ENST00000367409.4	-	18	5419	c.5163G>T	c.(5161-5163)aaG>aaT	p.K1721N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1721					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTCTTCTCTCTTTTGTGCAG	0.378																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5161-5163)aaG>aaT		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							114.0	115.0	115.0					1																	197073218		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073218C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5163G>T	1.37:g.197073218C>A	ENSP00000356379:p.Lys1721Asn					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.K1721N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5419	-			1721					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5163G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759433	0.31137	.	.	ENSG00000066279	ENST00000367409	T	0.58940	0.3	5.98	3.03	0.35002	.	1.189960	0.05684	N	0.590992	T	0.56366	0.1980	M	0.75447	2.3	0.30637	N	0.756886	D	0.57257	0.979	P	0.45474	0.482	T	0.52895	-0.8514	10	0.23891	T	0.37	.	1.1784	0.01840	0.1348:0.3712:0.1663:0.3277	.	1721	Q8IZT6	ASPM_HUMAN	N	1721	ENSP00000356379:K1721N	ENSP00000356379:K1721N	K	-	3	2	ASPM	195339841	0.001000	0.12720	0.271000	0.24616	0.445000	0.32107	0.123000	0.15708	0.867000	0.35654	0.585000	0.79938	AAG		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		66	659	1	0	3.07281e-33	1	3.63882e-33	66	659				
VPREB3	29802	broad.mit.edu	37	22	24095296	24095296	+	Missense_Mutation	SNP	C	C	T	rs146725149	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24095296C>T	ENST00000248948.3	-	2	243	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	VPREB3_ENST00000398465.3_Missense_Mutation_p.V31I|ZNF70_ENST00000341976.3_5'Flank	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	47	Ig-like.					endoplasmic reticulum (GO:0005783)				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				CTGATGGTGACGTGCTGGGGG	0.632													C|||	16	0.00319489	0.0121	0.0	5008	,	,		18784	0.0		0.0	False		,,,				2504	0.0					ENST00000248948.3																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(139-141)Gtc>Atc		pre-B lymphocyte 3		C	ILE/VAL	54,4352	53.6+/-89.4	1,52,2150	85.0	64.0	71.0		139	-5.8	0.0	22	dbSNP_134	71	0,8600		0,0,4300	yes	missense	VPREB3	NM_013378.2	29	1,52,6450	TT,TC,CC		0.0,1.2256,0.4152	benign	47/124	24095296	54,12952	2203	4300	6503	SO:0001583	missense	29802					endoplasmic reticulum		g.chr22:24095296C>T		CCDS13813.1	22q11.23	2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218		"""Immunoglobulin superfamily / V-set domain containing"""	12710	protein-coding gene	gene with protein product		605017				10702669, 14670953	Standard	NM_013378		Approved	8HS20	uc002zxt.3	Q9UKI3	OTTHUMG00000150738	ENST00000248948.3:c.139G>A	22.37:g.24095296C>T	ENSP00000248948:p.Val47Ile					VPREB3_ENST00000398465.3_Missense_Mutation_p.V31I	p.V47I	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN			2	243	-		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)	47			Ig-like.		B2R587	Missense_Mutation	SNP	ENST00000248948.3	37	c.139G>A	CCDS13813.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	2.301	-0.360116	0.05103	0.012256	0.0	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.32023	1.47;1.5	4.94	-5.77	0.02369	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.857165	0.09939	N	0.736197	T	0.04679	0.0127	N	0.05351	-0.065	0.09310	N	1	P	0.39847	0.691	B	0.31946	0.138	T	0.34527	-0.9825	10	0.02654	T	1	.	1.0886	0.01659	0.2221:0.2842:0.1094:0.3843	.	47	Q9UKI3	VPRE3_HUMAN	I	31;47	ENSP00000381483:V31I;ENSP00000248948:V47I	ENSP00000248948:V47I	V	-	1	0	VPREB3	22425296	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.017000	0.12590	-0.621000	0.05633	-0.534000	0.04291	GTC		0.632	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319879.2	NM_013378		10	143	0	0	0	1	0	10	143				
TTC26	79989	broad.mit.edu	37	7	138819493	138819493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138819493G>T	ENST00000464848.1	+	2	176	c.96G>T	c.(94-96)gaG>gaT	p.E32D	TTC26_ENST00000495038.1_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D|TTC26_ENST00000474035.2_Missense_Mutation_p.E32D|TTC26_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	32					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACTAGAGGAGCTACTTTCAA	0.418																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(94-96)gaG>gaT		tetratricopeptide repeat domain 26							81.0	75.0	77.0					7																	138819493		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138819493G>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.96G>T	7.37:g.138819493G>T	ENSP00000419279:p.Glu32Asp					TTC26_ENST00000474035.2_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D|TTC26_ENST00000495038.1_Missense_Mutation_p.E32D	p.E32D			A0AVF1	TTC26_HUMAN			2	176	+			32					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.96G>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296372	0.10622	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.41065	1.01;1.03;1.06;1.01;1.02	6.06	1.94	0.25998	.	0.112837	0.64402	N	0.000013	T	0.12390	0.0301	N	0.01874	-0.695	0.38404	D	0.945736	B;B;B;B;B;B;B	0.15473	0.0;0.0;0.001;0.0;0.0;0.013;0.0	B;B;B;B;B;B;B	0.14023	0.001;0.001;0.002;0.0;0.001;0.01;0.001	T	0.28776	-1.0033	10	0.02654	T	1	.	6.0868	0.19973	0.0697:0.2421:0.5559:0.1323	.	32;32;32;32;32;32;32	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	D	32	ENSP00000410655:E32D;ENSP00000418788:E32D;ENSP00000419178:E32D;ENSP00000419279:E32D;ENSP00000339135:E32D	ENSP00000339135:E32D	E	+	3	2	TTC26	138470033	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	0.889000	0.28282	0.404000	0.25506	0.650000	0.86243	GAG		0.418	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		13	288	1	0	2.27111e-07	1	2.35674e-07	13	288				
PRX	57716	broad.mit.edu	37	19	40902345	40902345	+	Silent	SNP	C	C	T	rs575492732	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902345C>T	ENST00000324001.7	-	7	2184	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	638	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGTTTCACCTCAGGGAGTT	0.582																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1912-1914)gaG>gaA		periaxin							89.0	101.0	97.0					19																	40902345		2203	4299	6502	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902345C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1914G>A	19.37:g.40902345C>T						PRX_ENST00000291825.7_3'UTR	p.E638E	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2184	-			638			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1914G>A	CCDS33028.1																																																																																				0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		20	1051	0	0	0	1	0	20	1051				
ZNF460	10794	broad.mit.edu	37	19	57802419	57802419	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802419C>A	ENST00000360338.3	+	3	832	c.510C>A	c.(508-510)tcC>tcA	p.S170S	ZNF460_ENST00000537645.1_Silent_p.S129S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAAATTCCTATAAATTCG	0.413																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(508-510)tcC>tcA		zinc finger protein 460							110.0	110.0	110.0					19																	57802419		2203	4300	6503	SO:0001819	synonymous_variant	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802419C>A	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.510C>A	19.37:g.57802419C>A						ZNF460_ENST00000537645.1_Silent_p.S129S	p.S170S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	832	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	170					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	c.510C>A	CCDS12949.1																																																																																				0.413	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		138	578	1	0	1.61085e-67	1	2.04067e-67	138	578				
TIMM21	29090	broad.mit.edu	37	18	71822623	71822623	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71822623C>T	ENST00000169551.6	+	3	745	c.447C>T	c.(445-447)tgC>tgT	p.C149C	TIMM21_ENST00000580087.1_Silent_p.C149C	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	149					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											TAGAAAAATGCAGATCACATC	0.408																																						ENST00000580087.1																			0											c.(445-447)tgC>tgT		translocase of inner mitochondrial membrane 21 homolog (yeast)							112.0	105.0	107.0					18																	71822623		2203	4300	6503	SO:0001819	synonymous_variant	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71822623C>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.447C>T	18.37:g.71822623C>T						TIMM21_ENST00000169551.6_Silent_p.C149C	p.C149C			Q9BVV7	TI21L_HUMAN			3	733	+			149					Q9P010	Silent	SNP	ENST00000169551.6	37	c.447C>T	CCDS12003.1																																																																																				0.408	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		61	253	0	0	0	1	0	61	253				
ADAMTSL1	92949	broad.mit.edu	37	9	18892409	18892409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18892409G>A	ENST00000380548.4	+	26	5005	c.4666G>A	c.(4666-4668)Gcc>Acc	p.A1556T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1556	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCTGGTCTGCCTGTACCCG	0.602																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(4666-4668)Gcc>Acc		ADAMTS-like 1							29.0	31.0	30.0					9																	18892409		1922	4119	6041	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18892409G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4666G>A	9.37:g.18892409G>A	ENSP00000369921:p.Ala1556Thr					ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	p.A1556T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	26	5005	+			1556			TSP type-1 8.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.4666G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834813	0.32421	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.55052	0.54;0.54	5.45	4.48	0.54585	.	0.467261	0.21883	N	0.067719	T	0.32376	0.0827	N	0.13235	0.315	0.27451	N	0.953432	B;B	0.29212	0.137;0.237	B;B	0.30943	0.058;0.122	T	0.12091	-1.0561	10	0.33141	T	0.24	.	7.4575	0.27274	0.0:0.1348:0.4922:0.373	.	257;1556	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	T	1556;257;260	ENSP00000369921:A1556T;ENSP00000369918:A257T	ENSP00000325584:A260T	A	+	1	0	ADAMTSL1	18882409	0.019000	0.18553	0.967000	0.41034	0.998000	0.95712	1.680000	0.37607	2.560000	0.86352	0.555000	0.69702	GCC		0.602	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			14	90	0	0	0	1	0	14	90				
SLC2A6	11182	broad.mit.edu	37	9	136337180	136337180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337180G>A	ENST00000371899.4	-	10	1564	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	496					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCGGAAGAAGGACTCGATCTG	0.617																																						ENST00000371899.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10						c.(1486-1488)tCc>tTc		solute carrier family 2 (facilitated glucose transporter), member 6							110.0	96.0	101.0					9																	136337180		2203	4300	6503	SO:0001583	missense	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136337180G>A	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1487C>T	9.37:g.136337180G>A	ENSP00000360966:p.Ser496Phe					SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F|SLC2A6_ENST00000485978.1_5'UTR	p.S496F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	10	1564	-			496					A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	c.1487C>T	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851904	0.32699	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	D;T	0.81739	-1.53;-0.85	4.78	3.86	0.44501	.	0.481200	0.23666	N	0.045766	D	0.82346	0.5017	L	0.42632	1.34	0.26555	N	0.973838	P;P	0.50819	0.874;0.939	P;P	0.55455	0.568;0.776	T	0.75918	-0.3148	10	0.51188	T	0.08	.	14.0612	0.64802	0.0:0.152:0.848:0.0	.	434;496	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	F	434;496	ENSP00000360964:S434F;ENSP00000360966:S496F	ENSP00000360964:S434F	S	-	2	0	SLC2A6	135327001	1.000000	0.71417	0.990000	0.47175	0.268000	0.26511	3.358000	0.52284	1.222000	0.43521	0.650000	0.86243	TCC		0.617	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		78	277	0	0	0	1	0	78	277				
DSCAML1	57453	broad.mit.edu	37	11	117403205	117403205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117403205G>T	ENST00000321322.6	-	4	725	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	182	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGATGTACAGCCCGCCGTGG	0.547																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(724-726)Ctg>Atg		Down syndrome cell adhesion molecule like 1							99.0	88.0	92.0					11																	117403205		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117403205G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.724C>A	11.37:g.117403205G>T	ENSP00000315465:p.Leu242Met					DSCAML1_ENST00000527706.1_Intron	p.L242M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	4	725	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	182			Ig-like C2-type 3.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.724C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211823	0.79240	.	.	ENSG00000177103	ENST00000321322	D	0.92149	-2.98	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96213	0.8765	M	0.91972	3.26	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.96062	0.9039	9	0.87932	D	0	.	9.6034	0.39619	0.1263:0.0:0.8737:0.0	.	182	Q8TD84	DSCL1_HUMAN	M	242	ENSP00000315465:L242M	ENSP00000315465:L242M	L	-	1	2	DSCAML1	116908415	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.166000	0.71896	2.688000	0.91661	0.655000	0.94253	CTG		0.547	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		15	311	1	0	7.93312e-07	1	8.20014e-07	15	311				
IP6K1	9807	broad.mit.edu	37	3	49764895	49764895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49764895C>T	ENST00000321599.4	-	6	1287	c.986G>A	c.(985-987)cGc>cAc	p.R329H	IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H|IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H|IP6K1_ENST00000468463.1_3'UTR	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	329					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GGAGTAGAAGCGGTAAGAGGC	0.592																																						ENST00000321599.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						c.(985-987)cGc>cAc		inositol hexakisphosphate kinase 1							46.0	48.0	48.0					3																	49764895		2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49764895C>T	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.986G>A	3.37:g.49764895C>T	ENSP00000323780:p.Arg329His					IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H	p.R329H	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN			6	1287	-			329					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.986G>A	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420960	0.96111	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.16324	2.35;2.35;2.35	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12066	-1.0562	10	0.54805	T	0.06	-24.2595	20.0953	0.97838	0.0:1.0:0.0:0.0	.	329	Q92551	IP6K1_HUMAN	H	329;164;164	ENSP00000323780:R329H;ENSP00000378659:R164H;ENSP00000420762:R164H	ENSP00000323780:R329H	R	-	2	0	IP6K1	49739899	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CGC		0.592	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		60	271	0	0	0	1	0	60	271				
PCDHGC4	56098	broad.mit.edu	37	5	140867053	140867053	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140867053C>A	ENST00000306593.1	+	1	2313	c.2313C>A	c.(2311-2313)ggC>ggA	p.G771G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	771					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCATGGCTGTACACCCT	0.572																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2311-2313)ggC>ggA									87.0	74.0	78.0					5																	140867053		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140867053C>A	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2313C>A	5.37:g.140867053C>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.G771G	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2313	+								Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.2313C>A	CCDS4262.1																																																																																				0.572	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		50	237	1	0	9.40368e-32	1	1.10827e-31	50	237				
CPS1	1373	broad.mit.edu	37	2	211454881	211454881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211454881G>A	ENST00000233072.5	+	8	959	c.763G>A	c.(763-765)Gag>Aag	p.E255K	CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	255	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CACCAAGATGGAGTATGATGG	0.443																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(763-765)Gag>Aag		carbamoyl-phosphate synthase 1, mitochondrial							206.0	214.0	212.0					2																	211454881		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211454881G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.763G>A	2.37:g.211454881G>A	ENSP00000233072:p.Glu255Lys					CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	p.E255K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	8	959	+			255			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.763G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571917	0.65765	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.89875	-2.58;-2.58	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.150178	0.64402	D	0.000018	D	0.85796	0.5780	L	0.37897	1.145	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.79225	-0.1891	10	0.38643	T	0.18	-1.1782	20.2885	0.98538	0.0:0.0:1.0:0.0	.	265;255	Q59HF8;P31327	.;CPSM_HUMAN	K	261;263;255;255	ENSP00000402608:E261K;ENSP00000233072:E255K	ENSP00000233072:E255K	E	+	1	0	CPS1	211163126	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.500000	0.81588	2.791000	0.96007	0.650000	0.86243	GAG		0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			308	1041	0	0	0	1	0	308	1041				
CREBRF	153222	broad.mit.edu	37	5	172539317	172539317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:172539317G>A	ENST00000296953.2	+	7	1935	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	CREBRF_ENST00000540014.1_Missense_Mutation_p.R541Q	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	539	Leucine-zipper. {ECO:0000250}.|bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGAGCTTGTCGGTTAAAGAAG	0.353																																						ENST00000540014.1																			0											c.(1621-1623)cGg>cAg		CREB3 regulatory factor							76.0	79.0	78.0					5																	172539317		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172539317G>A	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1616G>A	5.37:g.172539317G>A	ENSP00000296953:p.Arg539Gln					CREBRF_ENST00000296953.2_Missense_Mutation_p.R539Q	p.R541Q			Q8IUR6	CE041_HUMAN			8	1941	+			539					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.1622G>A	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552376	0.96501	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.22336	1.96;1.96	5.67	5.67	0.87782	Basic-leucine zipper (bZIP) transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.46964	0.1420	M	0.69358	2.11	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.18681	-1.0329	10	0.40728	T	0.16	.	19.7476	0.96257	0.0:0.0:1.0:0.0	.	539	Q8IUR6	CE041_HUMAN	Q	539;541;539;539	ENSP00000296953:R539Q;ENSP00000440075:R541Q	ENSP00000296953:R539Q	R	+	2	0	C5orf41	172471923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.360000	0.97119	2.678000	0.91216	0.591000	0.81541	CGG		0.353	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		61	282	0	0	0	1	0	61	282				
TREX1	11277	broad.mit.edu	37	3	48508597	48508597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48508597C>T	ENST00000422277.2	+	1	1369	c.708C>T	c.(706-708)agC>agT	p.S236S	TREX1_ENST00000436480.2_Silent_p.S181S|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000456089.1_Silent_p.S42S|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000296443.9_Silent_p.S181S	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	236					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCTAGGCAGCATCTACACTC	0.612																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(541-543)agC>agT		three prime repair exonuclease 1							61.0	62.0	61.0					3																	48508597		2203	4300	6503	SO:0001819	synonymous_variant	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508597C>T	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.708C>T	3.37:g.48508597C>T						TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000422277.2_Silent_p.S236S|TREX1_ENST00000456089.1_Silent_p.S42S|TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000436480.2_Silent_p.S181S	p.S181S			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1430	+			236					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Silent	SNP	ENST00000422277.2	37	c.543C>T	CCDS43086.1																																																																																				0.612	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		51	231	0	0	0	1	0	51	231				
MAP1LC3B2	643246	broad.mit.edu	37	12	117013978	117013978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117013978G>A	ENST00000556529.1	+	1	323	c.231G>A	c.(229-231)caG>caA	p.Q77Q	MAP1LC3B2_ENST00000306985.4_Silent_p.Q77Q			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	77					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						ATGCTAATCAGGCCTTCTTCC	0.448																																						ENST00000306985.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(229-231)caG>caA		microtubule-associated protein 1 light chain 3 beta 2							127.0	124.0	125.0					12																	117013978		2203	4300	6503	SO:0001819	synonymous_variant	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117013978G>A		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.231G>A	12.37:g.117013978G>A						MAP1LC3B2_ENST00000556529.1_Silent_p.Q77Q	p.Q77Q	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN			2	385	+			77						Silent	SNP	ENST00000556529.1	37	c.231G>A	CCDS41841.1																																																																																				0.448	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		115	507	0	0	0	1	0	115	507				
STEAP2	261729	broad.mit.edu	37	7	89861714	89861714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861714C>T	ENST00000287908.3	+	5	1642	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	417					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGGATGGAAACGAGCTTTTGA	0.363																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(1249-1251)Cga>Tga		STEAP family member 2, metalloreductase							113.0	106.0	108.0					7																	89861714		2203	4300	6503	SO:0001587	stop_gained	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89861714C>T	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1249C>T	7.37:g.89861714C>T	ENSP00000287908:p.Arg417*					STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394632.1_Intron	p.R417*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			5	1642	+	all_hematologic(106;0.112)		417					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Nonsense_Mutation	SNP	ENST00000287908.3	37	c.1249C>T	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.249134	0.97412	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394624;ENST00000394621;ENST00000394629	.	.	.	5.77	3.79	0.43588	.	0.059090	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0958	13.5431	0.61686	0.3917:0.6083:0.0:0.0	.	.	.	.	X	417	.	ENSP00000287908:R417X	R	+	1	2	STEAP2	89699650	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.770000	0.55310	1.433000	0.47394	0.644000	0.83932	CGA		0.363	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		28	138	0	0	0	1	0	28	138				
PSD3	23362	broad.mit.edu	37	8	18725375	18725375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18725375C>T	ENST00000327040.8	-	4	1545	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	PSD3_ENST00000523619.1_Missense_Mutation_p.M416I|PSD3_ENST00000440756.2_Missense_Mutation_p.M481I	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	481					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCTGTTGTATCATTGGAGTGA	0.458																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1441-1443)atG>atA		pleckstrin and Sec7 domain containing 3							201.0	195.0	197.0					8																	18725375		2030	4185	6215	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725375C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1443G>A	8.37:g.18725375C>T	ENSP00000324127:p.Met481Ile					PSD3_ENST00000523619.1_Missense_Mutation_p.M416I|PSD3_ENST00000327040.8_Missense_Mutation_p.M481I	p.M481I			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1545	-			481					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1443G>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416430	0.62511	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.10668	2.85;2.85;2.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.32530	0.975	0.42160	D	0.991596	B	0.29716	0.255	B	0.27608	0.081	T	0.09684	-1.0663	10	0.45353	T	0.12	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	481	E9KL50	.	I	481;481;416	ENSP00000324127:M481I;ENSP00000401704:M481I;ENSP00000430640:M416I	ENSP00000324127:M481I	M	-	3	0	PSD3	18769655	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.289000	0.65656	2.637000	0.89404	0.585000	0.79938	ATG		0.458	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		146	582	0	0	0	1	0	146	582				
CNOT3	4849	broad.mit.edu	37	19	54652176	54652176	+	Silent	SNP	C	C	T	rs370903869	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54652176C>T	ENST00000406403.1	+	10	2791	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	CNOT3_ENST00000221232.5_Silent_p.S396S|CNOT3_ENST00000358389.3_Silent_p.S215S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	396					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCAGCCTAgcggaggcggag	0.706													C|||	3	0.000599042	0.0008	0.0	5008	,	,		9878	0.0		0.001	False		,,,				2504	0.001					ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1186-1188)agC>agT		CCR4-NOT transcription complex, subunit 3		C		3,4053		0,3,2025	6.0	8.0	7.0		1188	-3.9	0.0	19		7	2,7984		0,2,3991	no	coding-synonymous	CNOT3	NM_014516.3		0,5,6016	TT,TC,CC		0.025,0.074,0.0415		396/754	54652176	5,12037	2028	3993	6021	SO:0001819	synonymous_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54652176C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1188C>T	19.37:g.54652176C>T						CNOT3_ENST00000358389.3_Silent_p.S215S|CNOT3_ENST00000221232.5_Silent_p.S396S	p.S396S			O75175	CNOT3_HUMAN			10	2791	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		396					Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1188C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	c	0.073	-1.198728	0.01581	7.4E-4	2.5E-4	ENSG00000088038	ENST00000440571	.	.	.	3.15	-3.94	0.04130	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	-2.0331	5.4076	0.16330	0.0:0.3536:0.1466:0.4998	.	.	.	.	V	318	.	.	A	+	2	0	CNOT3	59343988	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	-1.357000	0.02607	-0.906000	0.03866	-0.436000	0.05848	GCG		0.706	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		25	91	0	0	0	1	0	25	91				
UPF3A	65110	broad.mit.edu	37	13	115070355	115070355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115070355C>T	ENST00000375299.3	+	10	1450	c.1394C>T	c.(1393-1395)tCg>tTg	p.S465L	UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	465					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCAGAAGGTTCGGGGACTGGT	0.602																																						ENST00000375299.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1393-1395)tCg>tTg		UPF3 regulator of nonsense transcripts homolog A (yeast)							35.0	36.0	36.0					13																	115070355		2203	4296	6499	SO:0001583	missense	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115070355C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1394C>T	13.37:g.115070355C>T	ENSP00000364448:p.Ser465Leu					UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L|UPF3A_ENST00000475218.2_3'UTR	p.S465L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	10	1450	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	465					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	c.1394C>T	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802184	0.31869	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.77620	-1.11;-1.11	3.47	2.56	0.30785	.	2.138080	0.03144	N	0.166950	T	0.68366	0.2993	L	0.38175	1.15	0.09310	N	1	B;B	0.26081	0.059;0.141	B;B	0.17098	0.011;0.017	T	0.51164	-0.8740	9	.	.	.	.	6.2334	0.20750	0.1828:0.7158:0.0:0.1015	.	432;465	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	L	465;432;197	ENSP00000364448:S465L;ENSP00000329592:S432L	.	S	+	2	0	UPF3A	114088457	0.004000	0.15560	0.001000	0.08648	0.066000	0.16364	0.321000	0.19558	0.707000	0.31934	0.563000	0.77884	TCG		0.602	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			47	168	0	0	0	1	0	47	168				
HIPK4	147746	broad.mit.edu	37	19	40885655	40885655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40885655C>T	ENST00000291823.2	-	4	1974	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	564					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGCTGGGGTCGAAGAGCTCA	0.637																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1690-1692)Gac>Aac		homeodomain interacting protein kinase 4							19.0	21.0	20.0					19																	40885655		2201	4297	6498	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40885655C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1690G>A	19.37:g.40885655C>T	ENSP00000291823:p.Asp564Asn						p.D564N	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		4	1974	-			564					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1690G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760290	0.49468	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.68903	-0.36	5.12	3.01	0.34805	.	0.210963	0.33110	N	0.005276	T	0.49983	0.1589	L	0.27053	0.805	0.33448	D	0.583264	B	0.13594	0.008	B	0.08055	0.003	T	0.55988	-0.8053	10	0.87932	D	0	.	7.9341	0.29920	0.0:0.8099:0.0:0.1901	.	564	Q8NE63	HIPK4_HUMAN	N	564;529	ENSP00000291823:D564N	ENSP00000291823:D564N	D	-	1	0	HIPK4	45577495	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	0.864000	0.27926	0.685000	0.31468	0.462000	0.41574	GAC		0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		19	106	0	0	0	1	0	19	106				
OR2A25	392138	broad.mit.edu	37	7	143772016	143772016	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143772016A>C	ENST00000408898.2	+	1	742	c.704A>C	c.(703-705)aAa>aCa	p.K235T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGGTGCCAGAAAGCCTTCTCC	0.493																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(703-705)aAa>aCa		olfactory receptor, family 2, subfamily A, member 25							112.0	121.0	118.0					7																	143772016		2163	4294	6457	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143772016A>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.704A>C	7.37:g.143772016A>C	ENSP00000386167:p.Lys235Thr						p.K235T	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	742	+	Melanoma(164;0.0783)		235					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.704A>C	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763942	0.49574	.	.	ENSG00000221933	ENST00000408898	T	0.00375	7.71	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01695	0.0054	H	0.97023	3.925	0.43745	D	0.996242	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	9	0.87932	D	0	-6.4599	12.4196	0.55512	1.0:0.0:0.0:0.0	.	235	A4D2G3	O2A25_HUMAN	T	235	ENSP00000386167:K235T	ENSP00000386167:K235T	K	+	2	0	OR2A25	143402949	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	7.003000	0.76310	2.030000	0.59900	0.460000	0.39030	AAA		0.493	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			107	452	0	0	0	1	0	107	452				
SPG20	23111	broad.mit.edu	37	13	36900795	36900795	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36900795A>G	ENST00000451493.1	-	5	1422	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T	SPG20_ENST00000494062.2_Missense_Mutation_p.I402T|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T|SPG20_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	402					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ACATGGTACAATGTGACTCAG	0.358																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1204-1206)aTt>aCt		spastic paraplegia 20 (Troyer syndrome)							96.0	84.0	88.0					13																	36900795		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36900795A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1205T>C	13.37:g.36900795A>G	ENSP00000414147:p.Ile402Thr					SPG20_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000494062.2_Missense_Mutation_p.I402T|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T	p.I402T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	5	1422	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	402					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1205T>C	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987410	0.18889	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.87729	-2.29;-2.29;-2.29	5.68	2.02	0.26589	.	0.388105	0.26092	N	0.026399	T	0.73140	0.3549	N	0.24115	0.695	0.25394	N	0.988507	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.54146	-0.8337	10	0.12766	T	0.61	-3.3442	6.8046	0.23770	0.5431:0.0:0.4569:0.0	.	402;402;402	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	T	402	ENSP00000406061:I402T;ENSP00000347314:I402T;ENSP00000414147:I402T	ENSP00000347314:I402T	I	-	2	0	SPG20	35798795	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	2.090000	0.41682	0.435000	0.26365	0.460000	0.39030	ATT		0.358	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			25	155	0	0	0	1	0	25	155				
MYOZ3	91977	broad.mit.edu	37	5	150052037	150052037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150052037G>T	ENST00000297130.4	+	6	759	c.560G>T	c.(559-561)aGc>aTc	p.S187I	CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H|MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACCCCCAGCCCCAACGAC	0.642																																						ENST00000297130.4																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(559-561)aGc>aTc		myozenin 3							41.0	43.0	42.0					5																	150052037		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150052037G>T	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.560G>T	5.37:g.150052037G>T	ENSP00000297130:p.Ser187Ile					MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I|MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H	p.S187I	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	759	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	187			Binding to ACTN2.			Missense_Mutation	SNP	ENST00000297130.4	37	c.560G>T	CCDS4309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.004|6.004	0.369069|0.369069	0.11352|0.11352	.|.	.|.	ENSG00000164591|ENSG00000164591	ENST00000520112|ENST00000517768;ENST00000297130;ENST00000523553	.|T;T;T	.|0.64803	.|-0.12;-0.12;-0.12	4.71|4.71	0.856|0.856	0.19019|0.19019	.|.	.|0.558332	.|0.17869	.|N	.|0.159246	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.12156	.|0.007	T|T	0.18935|0.18935	-1.0321|-1.0321	6|10	0.87932|0.35671	D|T	0|0.21	-3.4812|-3.4812	4.3584|4.3584	0.11190|0.11190	0.2635:0.0:0.5748:0.1616|0.2635:0.0:0.5748:0.1616	.|.	.|187	.|Q8TDC0	.|MYOZ3_HUMAN	H|I	103|187;187;95	.|ENSP00000428815:S187I;ENSP00000297130:S187I;ENSP00000430913:S95I	ENSP00000429439:Q103H|ENSP00000297130:S187I	Q|S	+|+	3|2	2|0	MYOZ3|MYOZ3	150032230|150032230	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	-0.065000|-0.065000	0.11617|0.11617	-0.035000|-0.035000	0.13691|0.13691	-0.254000|-0.254000	0.11334|0.11334	CAG|AGC		0.642	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		28	129	1	0	1.12875e-08	1	1.18168e-08	28	129				
CDCA2	157313	broad.mit.edu	37	8	25337590	25337590	+	Missense_Mutation	SNP	C	C	T	rs371312809		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25337590C>T	ENST00000330560.3	+	8	1459	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	328					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R328C(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTTGTACTTCGTTCTGTACT	0.458																																						ENST00000330560.3																			1	Substitution - Missense(1)	p.R328C(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(982-984)Cgt>Tgt		cell division cycle associated 2		C	CYS/ARG	0,4406		0,0,2203	112.0	99.0	103.0		982	5.3	1.0	8		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCA2	NM_152562.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	328/1024	25337590	1,13005	2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25337590C>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.982C>T	8.37:g.25337590C>T	ENSP00000328228:p.Arg328Cys					CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C|CDCA2_ENST00000521098.2_3'UTR	p.R328C	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	8	1459	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	328					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.982C>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692993	0.68271	0.0	1.16E-4	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.63580	-0.05;-0.05	5.32	5.32	0.75619	.	0.082402	0.50627	D	0.000103	T	0.78310	0.4263	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80139	-0.1507	10	0.87932	D	0	-18.3521	14.3712	0.66840	0.0:1.0:0.0:0.0	.	328;313;328	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	C	328;313	ENSP00000328228:R328C;ENSP00000370040:R313C	ENSP00000328228:R328C	R	+	1	0	CDCA2	25393507	1.000000	0.71417	0.997000	0.53966	0.451000	0.32288	3.662000	0.54510	2.773000	0.95371	0.650000	0.86243	CGT		0.458	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		49	198	0	0	0	1	0	49	198				
DUSP26	78986	broad.mit.edu	37	8	33454996	33454996	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33454996A>C	ENST00000256261.4	-	2	555	c.38T>G	c.(37-39)tTt>tGt	p.F13C	DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	13					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCGGGCCATAAAAGTCATAGA	0.542																																						ENST00000256261.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15						c.(37-39)tTt>tGt		dual specificity phosphatase 26 (putative)							58.0	58.0	58.0					8																	33454996		2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33454996A>C	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.38T>G	8.37:g.33454996A>C	ENSP00000256261:p.Phe13Cys					DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	p.F13C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	2	555	-			13					D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.38T>G	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204645	0.79127	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.21361	3.82;3.82;2.01	5.5	5.5	0.81552	.	0.360837	0.27744	N	0.018029	T	0.34221	0.0890	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.74674	0.984	T	0.03453	-1.1035	10	0.40728	T	0.16	-20.8967	13.8287	0.63366	1.0:0.0:0.0:0.0	.	13	Q9BV47	DUS26_HUMAN	C	13	ENSP00000256261:F13C;ENSP00000429176:F13C;ENSP00000430922:F13C	ENSP00000256261:F13C	F	-	2	0	DUSP26	33574538	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	8.292000	0.89930	2.094000	0.63399	0.459000	0.35465	TTT		0.542	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		44	195	0	0	0	1	0	44	195				
GSTA3	2940	broad.mit.edu	37	6	52770568	52770568	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52770568A>C	ENST00000211122.3	-	2	130	c.65T>G	c.(64-66)cTc>cGc	p.L22R	GSTA3_ENST00000370968.1_Intron	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	22	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGCAGCCAAGAGCCACCGGAT	0.448																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(64-66)cTc>cGc		glutathione S-transferase alpha 3	Glutathione(DB00143)						90.0	83.0	85.0					6																	52770568		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52770568A>C	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.65T>G	6.37:g.52770568A>C	ENSP00000211122:p.Leu22Arg					GSTA3_ENST00000370968.1_Intron	p.L22R	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			2	130	-	Lung NSC(77;0.0912)		22			GST N-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.65T>G	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.790438	0.70337	.	.	ENSG00000174156	ENST00000211122	T	0.12039	2.72	3.14	3.14	0.36123	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.48840	0.1522	H	0.99726	4.73	0.48452	D	0.999655	D	0.89917	1.0	D	0.80764	0.994	T	0.70702	-0.4799	10	0.87932	D	0	.	12.0972	0.53761	1.0:0.0:0.0:0.0	.	22	Q16772	GSTA3_HUMAN	R	22	ENSP00000211122:L22R	ENSP00000211122:L22R	L	-	2	0	GSTA3	52878527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	1.688000	0.51068	0.533000	0.62120	CTC		0.448	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			56	238	0	0	0	1	0	56	238				
FRAS1	80144	broad.mit.edu	37	4	79367898	79367898	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79367898T>C	ENST00000264895.6	+	43	6314	c.5874T>C	c.(5872-5874)ccT>ccC	p.P1958P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1958					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACGATGAGCCTCCCAGGATGA	0.443																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5872-5874)ccT>ccC		Fraser syndrome 1							62.0	65.0	64.0					4																	79367898		1967	4164	6131	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79367898T>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.5874T>C	4.37:g.79367898T>C							p.P1958P	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			43	6314	+			1957					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.5874T>C	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	1.378	-0.584137	0.03827	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.78	-1.45	0.08828	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	.	0.682	0.00876	0.3835:0.2441:0.1189:0.2534	.	.	.	.	P	187	.	.	S	+	1	0	FRAS1	79586922	0.999000	0.42202	0.991000	0.47740	0.106000	0.19336	0.367000	0.20382	-0.432000	0.07297	-1.140000	0.01884	TCC		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	133	0	0	0	1	0	7	133				
HEATR3	55027	broad.mit.edu	37	16	50102776	50102776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50102776G>T	ENST00000299192.7	+	3	588	c.397G>T	c.(397-399)Gag>Tag	p.E133*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	133										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCTGCTAAAAGAGGTATGCAG	0.388																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(397-399)Gag>Tag		HEAT repeat containing 3							262.0	231.0	241.0					16																	50102776		2198	4300	6498	SO:0001587	stop_gained	55027						binding	g.chr16:50102776G>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.397G>T	16.37:g.50102776G>T	ENSP00000299192:p.Glu133*					HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*	p.E133*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			3	588	+			133					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	ENST00000299192.7	37	c.397G>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	36	5.720586	0.96839	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.44	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	15.4935	0.75632	0.0:0.0:0.8603:0.1397	.	.	.	.	X	47;133	.	ENSP00000285767:E47X	E	+	1	0	HEATR3	48660277	1.000000	0.71417	0.964000	0.40570	0.617000	0.37484	8.696000	0.91302	1.274000	0.44362	0.655000	0.94253	GAG		0.388	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		157	636	1	0	1.57643e-78	1	2.01367e-78	157	636				
FLRT3	23767	broad.mit.edu	37	20	14306234	14306234	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14306234C>T	ENST00000378053.3	-	2	2175	c.1919G>A	c.(1918-1920)gGt>gAt	p.G640D	FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	640					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTCTGGAATACCACTGTCTCT	0.423																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1918-1920)gGt>gAt		fibronectin leucine rich transmembrane protein 3							306.0	261.0	277.0					20																	14306234		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306234C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1919G>A	20.37:g.14306234C>T	ENSP00000367292:p.Gly640Asp					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D|MACROD2_ENST00000217246.4_Intron	p.G640D	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	2175	-		Colorectal(1;0.0464)	640					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1919G>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006577	0.54361	.	.	ENSG00000125848	ENST00000378053;ENST00000341420	T;T	0.62788	0.0;0.0	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.76796	-0.2827	10	0.66056	D	0.02	-12.6026	20.8598	0.99761	0.0:1.0:0.0:0.0	.	640	Q9NZU0	FLRT3_HUMAN	D	640	ENSP00000367292:G640D;ENSP00000339912:G640D	ENSP00000339912:G640D	G	-	2	0	FLRT3	14254234	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.999000	0.70665	2.937000	0.99478	0.650000	0.86243	GGT		0.423	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		20	626	0	0	0	1	0	20	626				
CDHR1	92211	broad.mit.edu	37	10	85955302	85955302	+	Silent	SNP	C	C	T	rs143674495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85955302C>T	ENST00000372117.3	+	2	211	c.108C>T	c.(106-108)aaC>aaT	p.N36N	CDHR1_ENST00000332904.3_Silent_p.N36N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCAGCACCAACGGAAACATGG	0.597													C|||	7	0.00139776	0.0	0.0	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0072					ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(106-108)aaC>aaT		cadherin-related family member 1							142.0	121.0	128.0					10																	85955302		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85955302C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.108C>T	10.37:g.85955302C>T						CDHR1_ENST00000332904.3_Silent_p.N36N	p.N36N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			2	211	+			36			Cadherin 1.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.108C>T	CCDS7372.1																																																																																				0.597	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		12	151	0	0	0	1	0	12	151				
PMS2P4	5382	broad.mit.edu	37	7	66767872	66767872	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66767872G>A	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		GCCACCTACAGGTAGGAGCGC	0.746																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66767872G>A	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767872G>A								NR_040586.1		Q8TBR4	STG34_HUMAN			0	265	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	SNP	ENST00000414507.1	37																																																																																						0.746	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		9	38	0	0	0	1	0	9	38				
IFT172	26160	broad.mit.edu	37	2	27677000	27677000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27677000G>T	ENST00000260570.3	-	33	3663	c.3560C>A	c.(3559-3561)gCt>gAt	p.A1187D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1187					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CACACGCTGAGCTGCCTCCCA	0.592																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3559-3561)gCt>gAt		intraflagellar transport 172 homolog (Chlamydomonas)							68.0	78.0	75.0					2																	27677000		2203	4297	6500	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27677000G>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3560C>A	2.37:g.27677000G>T	ENSP00000260570:p.Ala1187Asp						p.A1187D	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			33	3663	-	Acute lymphoblastic leukemia(172;0.155)		1187					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.3560C>A	CCDS1755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.404703|5.404703	0.96051|0.96051	.|.	.|.	ENSG00000138002|ENSG00000138002	ENST00000260570|ENST00000443889	T|.	0.55760|.	0.5|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86564|0.86564	0.5963|0.5963	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89274|0.89274	0.3607|0.3607	10|5	0.87932|.	D|.	0|.	-8.8992|-8.8992	18.3852|18.3852	0.90464|0.90464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1187|.	Q9UG01|.	IF172_HUMAN|.	D|R	1187|55	ENSP00000260570:A1187D|.	ENSP00000260570:A1187D|.	A|S	-|-	2|3	0|2	IFT172|IFT172	27530504|27530504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.053000|9.053000	0.93860|0.93860	2.693000|2.693000	0.91896|0.91896	0.462000|0.462000	0.41574|0.41574	GCT|AGC		0.592	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		157	790	1	0	1.27947e-65	1	1.61794e-65	157	790				
MVK	4598	broad.mit.edu	37	12	110024595	110024595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110024595C>T	ENST00000228510.3	+	7	744	c.668C>T	c.(667-669)tCc>tTc	p.S223F	MVK_ENST00000541384.1_Missense_Mutation_p.S29F|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.S171F|MVK_ENST00000539575.1_Missense_Mutation_p.S171F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	223					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AAGATTTCATCCTTAAAGAGG	0.512																																						ENST00000228510.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(667-669)tCc>tTc		mevalonate kinase							77.0	74.0	75.0					12																	110024595		2203	4300	6503	SO:0001583	missense	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110024595C>T	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.668C>T	12.37:g.110024595C>T	ENSP00000228510:p.Ser223Phe					MVK_ENST00000392727.3_Missense_Mutation_p.S171F|MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Missense_Mutation_p.S171F|MVK_ENST00000541384.1_Missense_Mutation_p.S29F	p.S223F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN			7	744	+			223						Missense_Mutation	SNP	ENST00000228510.3	37	c.668C>T	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685787	0.47991	.	.	ENSG00000110921	ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384	D;D;D;D	0.97791	-4.54;-4.37;-4.37;-4.38	4.83	3.01	0.34805	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.699813	0.14788	N	0.298383	D	0.95560	0.8557	L	0.59436	1.845	0.09310	N	1	B;D	0.55172	0.007;0.97	B;B	0.42738	0.009;0.396	D	0.90079	0.4169	10	0.51188	T	0.08	1.0E-4	7.2939	0.26383	0.0:0.8002:0.0:0.1998	.	171;223	F5H8H2;Q03426	.;KIME_HUMAN	F	223;171;171;29	ENSP00000228510:S223F;ENSP00000376487:S171F;ENSP00000443551:S171F;ENSP00000443182:S29F	ENSP00000228510:S223F	S	+	2	0	MVK	108508978	0.000000	0.05858	0.001000	0.08648	0.854000	0.48673	0.750000	0.26334	0.629000	0.30376	0.655000	0.94253	TCC		0.512	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		13	250	0	0	0	1	0	13	250				
NEB	4703	broad.mit.edu	37	2	152466579	152466579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152466579C>T	ENST00000172853.10	-	77	11492	c.11345G>A	c.(11344-11346)aGc>aAc	p.S3782N	NEB_ENST00000603639.1_Missense_Mutation_p.S4025N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000397345.3_Missense_Mutation_p.S4025N|NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000427231.2_Missense_Mutation_p.S4025N			P20929	NEBU_HUMAN	nebulin	3782					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTCAATGCTCTGGGCTCC	0.403																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(12073-12075)aGc>aAc		nebulin							142.0	132.0	135.0					2																	152466579		1907	4133	6040	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152466579C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11345G>A	2.37:g.152466579C>T	ENSP00000172853:p.Ser3782Asn					NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000603639.1_Missense_Mutation_p.S4025N|NEB_ENST00000172853.10_Missense_Mutation_p.S3782N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000427231.2_Missense_Mutation_p.S4025N	p.S4025N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12276	-			4024					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.12074G>A		.	.	.	.	.	.	.	.	.	.	C	15.30	2.791572	0.50102	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10099	3.05;2.98;2.91;3.06	5.36	5.36	0.76844	.	0.136350	0.64402	D	0.000004	T	0.09949	0.0244	L	0.31926	0.97	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.12293	-1.0553	10	0.33940	T	0.23	.	13.2308	0.59943	0.0:0.9171:0.0:0.0829	.	3782	P20929	NEBU_HUMAN	N	3782;4025;4025;3782	ENSP00000386259:S3782N;ENSP00000380505:S4025N;ENSP00000416578:S4025N;ENSP00000172853:S3782N	ENSP00000172853:S3782N	S	-	2	0	NEB	152174825	0.000000	0.05858	0.420000	0.26596	0.994000	0.84299	0.961000	0.29267	2.682000	0.91365	0.650000	0.86243	AGC		0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		49	212	0	0	0	1	0	49	212				
PKNOX1	5316	broad.mit.edu	37	21	44433326	44433326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44433326C>T	ENST00000291547.5	+	5	711	c.500C>T	c.(499-501)cCg>cTg	p.P167L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	167					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCTGGAAGCCCGTACTCACCA	0.473																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(499-501)cCg>cTg		PBX/knotted 1 homeobox 1							92.0	94.0	93.0					21																	44433326		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44433326C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.500C>T	21.37:g.44433326C>T	ENSP00000291547:p.Pro167Leu					PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50L	p.P167L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			5	711	+			167					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.500C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943085	0.92526	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	T;D	0.86562	1.71;-2.14	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92984	0.7767	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.963;0.998;0.963	D	0.92313	0.5859	10	0.48119	T	0.1	-12.5469	19.5829	0.95475	0.0:1.0:0.0:0.0	.	167;167;167	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	L	167;50	ENSP00000291547:P167L;ENSP00000402243:P50L	ENSP00000291547:P167L	P	+	2	0	PKNOX1	43306395	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	5.690000	0.68241	2.636000	0.89361	0.561000	0.74099	CCG		0.473	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			33	343	0	0	0	1	0	33	343				
LIM2	3982	broad.mit.edu	37	19	51883833	51883833	+	Missense_Mutation	SNP	C	C	T	rs371415135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51883833C>T	ENST00000596399.1	-	4	433	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LIM2_ENST00000221973.3_Missense_Mutation_p.R171H	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	129					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCAAAGCGGCGGCCCAGGAA	0.627																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(511-513)cGc>cAc		lens intrinsic membrane protein 2, 19kDa							104.0	105.0	105.0					19																	51883833		2203	4300	6503	SO:0001583	missense	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51883833C>T		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.386G>A	19.37:g.51883833C>T	ENSP00000472090:p.Arg129His					LIM2_ENST00000596399.1_Missense_Mutation_p.R129H	p.R171H	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	4	554	-		all_neural(266;0.0529)	129					Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	c.512G>A	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148262	0.78001	.	.	ENSG00000105370	ENST00000221973	D	0.89196	-2.48	4.73	3.7	0.42460	.	0.069759	0.56097	D	0.000021	D	0.89136	0.6629	L	0.40543	1.245	0.39623	D	0.970065	D;D	0.89917	0.996;1.0	P;D	0.65773	0.888;0.938	D	0.88558	0.3121	10	0.59425	D	0.04	-30.4197	6.3299	0.21264	0.0:0.7947:0.0:0.2053	.	129;171	P55344;P55344-2	LMIP_HUMAN;.	H	171	ENSP00000221973:R171H	ENSP00000221973:R171H	R	-	2	0	LIM2	56575645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.178000	0.69098	0.655000	0.94253	CGC		0.627	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		175	734	0	0	0	1	0	175	734				
DNMT3A	1788	broad.mit.edu	37	2	25467030	25467030	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25467030C>A	ENST00000264709.3	-	15	2182	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	615					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAAATTCCTGGTCGTGGT	0.637			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1843-1845)caG>caT		DNA (cytosine-5-)-methyltransferase 3 alpha							32.0	37.0	36.0					2																	25467030		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467030C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1845G>T	2.37:g.25467030C>A	ENSP00000264709:p.Gln615His					DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H	p.Q615H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2182	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		615					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1845G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789743	0.70337	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.71036	2.16	0.80722	D	1	B;D	0.71674	0.353;0.998	B;D	0.79784	0.106;0.993	T	0.81015	-0.1124	10	0.33141	T	0.24	-9.0995	8.0965	0.30831	0.0:0.762:0.0:0.238	.	615;426	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	426;615;615;392	ENSP00000370122:Q426H;ENSP00000324375:Q615H;ENSP00000264709:Q615H;ENSP00000384237:Q392H	ENSP00000264709:Q615H	Q	-	3	2	DNMT3A	25320534	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.644000	0.24766	2.354000	0.79902	0.655000	0.94253	CAG		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		113	261	1	0	6.1095e-40	1	7.39697e-40	113	261				
LPA	4018	broad.mit.edu	37	6	160953597	160953597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160953597G>A	ENST00000316300.5	-	38	5971	c.5927C>T	c.(5926-5928)gCt>gTt	p.A1976V	LPA_ENST00000447678.1_Missense_Mutation_p.A1976V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4484	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATGCTCAGCACAAATATA	0.443																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5926-5928)gCt>gTt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						78.0	79.0	78.0					6																	160953597		2149	4279	6428	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160953597G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5927C>T	6.37:g.160953597G>A	ENSP00000321334:p.Ala1976Val					LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Missense_Mutation_p.A1976V	p.A1976V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	39	6047	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4484			Kringle 18.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5927C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	14.27	2.486295	0.44147	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.91124	-2.79;-2.79	1.93	1.93	0.25924	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93602	0.7957	M	0.83852	2.665	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	D	0.93468	0.6816	9	0.62326	D	0.03	.	11.4209	0.49980	0.0:0.0:1.0:0.0	.	4484	P08519	APOA_HUMAN	V	1976	ENSP00000321334:A1976V;ENSP00000395608:A1976V	ENSP00000321334:A1976V	A	-	2	0	LPA	160873587	1.000000	0.71417	0.075000	0.20258	0.024000	0.10985	7.310000	0.78947	1.412000	0.46977	0.184000	0.17185	GCT		0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		35	260	0	0	0	1	0	35	260				
FRMPD4	9758	broad.mit.edu	37	X	12725605	12725605	+	Silent	SNP	G	G	A	rs548107853		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12725605G>A	ENST00000380682.1	+	13	1811	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	435	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAAGCGCTCGGAAGTGACTC	0.443																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1303-1305)tcG>tcA		FERM and PDZ domain containing 4							95.0	94.0	94.0					X																	12725605		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12725605G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1305G>A	X.37:g.12725605G>A							p.S435S	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			13	1811	+			435			FERM.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1305G>A	CCDS35201.1																																																																																				0.443	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		15	469	0	0	0	1	0	15	469				
DHDDS	79947	broad.mit.edu	37	1	26769270	26769270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26769270G>A	ENST00000236342.7	+	4	322	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T|DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T|DHDDS_ENST00000360009.2_Missense_Mutation_p.A77T|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	77					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)		GACAGTCTACGCATTCAGCAT	0.522																																						ENST00000360009.2																			0				breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15						c.(229-231)Gca>Aca		dehydrodolichyl diphosphate synthase							169.0	162.0	164.0					1																	26769270		2203	4300	6503	SO:0001583	missense	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26769270G>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.229G>A	1.37:g.26769270G>A	ENSP00000236342:p.Ala77Thr					DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T|DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T|DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000236342.7_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T	p.A77T	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)	4	306	+		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)	77					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	c.229G>A	CCDS282.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511033	0.96386	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;0.26;-1.39	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.954;0.999;0.987;0.967	D	0.90213	0.4266	10	0.45353	T	0.12	-26.5302	19.3088	0.94175	0.0:0.0:1.0:0.0	.	77;77;77;77	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	T	45;77;77;77;77;77;77;77;77;77;77;77;77	ENSP00000399177:A77T;ENSP00000434984:A77T;ENSP00000236342:A77T;ENSP00000434219:A77T;ENSP00000363300:A77T;ENSP00000353104:A77T;ENSP00000436119:A77T;ENSP00000436764:A77T;ENSP00000434185:A77T;ENSP00000433976:A77T;ENSP00000397584:A77T	ENSP00000236342:A77T	A	+	1	0	DHDDS	26641857	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.762000	0.98944	2.809000	0.96659	0.655000	0.94253	GCA		0.522	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		132	474	0	0	0	1	0	132	474				
POLR1A	25885	broad.mit.edu	37	2	86281383	86281383	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86281383G>T	ENST00000263857.6	-	15	2466	c.2088C>A	c.(2086-2088)atC>atA	p.I696I	POLR1A_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Silent_p.I696I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	696					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTCCTCTGGGATTATATTTA	0.453																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2086-2088)atC>atA		polymerase (RNA) I polypeptide A, 194kDa							99.0	98.0	98.0					2																	86281383		1917	4140	6057	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86281383G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2088C>A	2.37:g.86281383G>T						POLR1A_ENST00000409681.1_Silent_p.I696I|POLR1A_ENST00000483538.1_5'UTR	p.I696I			O95602	RPA1_HUMAN			15	2466	-			696					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.2088C>A	CCDS42706.1																																																																																				0.453	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		42	144	1	0	7.66079e-34	1	9.09671e-34	42	144				
OR51B5	282763	broad.mit.edu	37	11	5364599	5364599	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5364599A>G	ENST00000300773.2	-	1	210	c.156T>C	c.(154-156)aaT>aaC	p.N52N	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	52					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCATGAAGATTGTGATCTT	0.502																																						ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(154-156)aaT>aaC		olfactory receptor, family 51, subfamily B, member 5							66.0	71.0	69.0					11																	5364599		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364599A>G	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.156T>C	11.37:g.5364599A>G						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.N52N	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	210	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	52					B2RN59	Silent	SNP	ENST00000300773.2	37	c.156T>C	CCDS31378.1																																																																																				0.502	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		62	244	0	0	0	1	0	62	244				
ROBO3	64221	broad.mit.edu	37	11	124740119	124740119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124740119G>A	ENST00000397801.1	+	5	1017	c.825G>A	c.(823-825)gtG>gtA	p.V275V	ROBO3_ENST00000538940.1_Silent_p.V253V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	275	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATGCCCCTGTGACTTTCCTAT	0.602																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(823-825)gtG>gtA		roundabout, axon guidance receptor, homolog 3 (Drosophila)							100.0	102.0	102.0					11																	124740119		2033	4181	6214	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740119G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.825G>A	11.37:g.124740119G>A						ROBO3_ENST00000538940.1_Silent_p.V253V	p.V275V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	5	1017	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	275			Ig-like C2-type 3.			Silent	SNP	ENST00000397801.1	37	c.825G>A	CCDS44755.1																																																																																				0.602	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		65	268	0	0	0	1	0	65	268				
TGM6	343641	broad.mit.edu	37	20	2384147	2384147	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2384147G>T	ENST00000202625.2	+	8	1154		c.e8+1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGAGTGAAGGTACGCTCAAT	0.602																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.e8+1		transglutaminase 6	L-Glutamine(DB00130)						69.0	67.0	67.0					20																	2384147		2203	4300	6503	SO:0001630	splice_region_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384147G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1093+1G>T	20.37:g.2384147G>T						TGM6_ENST00000381423.1_Splice_Site		NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			8	1154	+								Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Splice_Site	SNP	ENST00000202625.2	37		CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336713	0.60963	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0187	0.80464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM6	2332147	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.866000	0.99616	2.735000	0.93741	0.549000	0.68633	.		0.602	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994	Intron	110	433	1	0	6.50375e-52	1	8.08219e-52	110	433				
FICD	11153	broad.mit.edu	37	12	108913102	108913102	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108913102C>T	ENST00000552695.1	+	3	1462	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	409	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)	p.G409G(1)		NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCAACGAGGGCGACGTGAGGC	0.582																																						ENST00000552695.1																			1	Substitution - coding silent(1)	p.G409G(1)	large_intestine(1)	NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(1225-1227)ggC>ggT		FIC domain containing							101.0	94.0	97.0					12																	108913102		2203	4300	6503	SO:0001819	synonymous_variant	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108913102C>T	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1227C>T	12.37:g.108913102C>T						FICD_ENST00000361549.2_3'UTR	p.G409G	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	1462	+			409			Fido.		O75406	Silent	SNP	ENST00000552695.1	37	c.1227C>T	CCDS9116.1																																																																																				0.582	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		59	249	0	0	0	1	0	59	249				
RHCE	6006	broad.mit.edu	37	1	25701914	25701914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25701914C>T	ENST00000349438.4	-	7	963	c.945G>A	c.(943-945)tgG>tgA	p.W315*	RHCE_ENST00000349320.3_Missense_Mutation_p.G344D|RHCE_ENST00000455194.1_Missense_Mutation_p.G255D|RHCE_ENST00000425135.1_Nonsense_Mutation_p.W269*|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000243186.6_Intron	NM_138618.3	NP_619524	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	16						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGGAAGCCAATCCTAGA	0.537																																						ENST00000425135.1																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(805-807)tgG>tgA		Rh blood group, CcEe antigens							179.0	145.0	157.0					1																	25701914		2202	4295	6497	SO:0001587	stop_gained	6006					integral to plasma membrane		g.chr1:25701914C>T	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000349438.4:c.945G>A	1.37:g.25701914C>T	ENSP00000334570:p.Trp315*					RHCE_ENST00000455194.1_Missense_Mutation_p.G255D|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000349320.3_Missense_Mutation_p.G344D|RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000349438.4_Nonsense_Mutation_p.W315*|RHCE_ENST00000413854.1_Intron	p.W269*			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	6	892	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	269					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Nonsense_Mutation	SNP	ENST00000349438.4	37	c.807G>A	CCDS30637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.05|11.05	1.523411|1.523411	0.27299|0.27299	.|.	.|.	ENSG00000188672|ENSG00000188672	ENST00000539650;ENST00000455194;ENST00000374352;ENST00000349320;ENST00000527747;ENST00000346452;ENST00000294413|ENST00000425135;ENST00000447203;ENST00000349438	T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;2.45;1.82|.	4.87|4.87	-0.203|-0.203	0.13204|0.13204	Ammonium transporter AmtB-like (3);|.	1.265480|.	0.05264|.	N|.	0.516210|.	T|.	0.48277|.	0.1491|.	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	A|A	1|1	B;B;D|.	0.89917|.	0.08;0.005;1.0|.	B;B;D|.	0.97110|.	0.074;0.005;1.0|.	T|.	0.51655|.	-0.8678|.	9|.	0.28530|0.23891	T|T	0.3|0.37	0.0295|0.0295	5.1073|5.1073	0.14790|0.14790	0.4748:0.395:0.0:0.1302|0.4748:0.395:0.0:0.1302	.|.	344;209;360|.	Q5VSJ9;E7EQ47;P18577|.	.;.;RHCE_HUMAN|.	D|X	289;255;344;344;38;209;360|269;359;315	ENSP00000416275:G255D;ENSP00000363472:G344D;ENSP00000311185:G344D;ENSP00000344485:G209D;ENSP00000294413:G360D|.	ENSP00000294413:G360D|ENSP00000334570:W315X	G|W	-|-	2|3	0|0	RHCE|RHCE	25574501|25574501	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-2.016000|-2.016000	0.01446|0.01446	-0.254000|-0.254000	0.09500|0.09500	-0.158000|-0.158000	0.13435|0.13435	GGC|TGG		0.537	RHCE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000101973.1	NM_020485		55	558	0	0	0	1	0	55	558				
IMPA2	3613	broad.mit.edu	37	18	12014290	12014290	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12014290C>T	ENST00000269159.3	+	5	650	c.408C>T	c.(406-408)tgC>tgT	p.C136C	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	136					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTACCACTGCACAGAGGAGC	0.577																																						ENST00000269159.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12						c.(406-408)tgC>tgT		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)						38.0	36.0	37.0					18																	12014290		2203	4300	6503	SO:0001819	synonymous_variant	3613				inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr18:12014290C>T	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.408C>T	18.37:g.12014290C>T						IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR	p.C136C	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN			5	650	+			136					B0YJ29|Q9UJT3	Silent	SNP	ENST00000269159.3	37	c.408C>T	CCDS11855.1																																																																																				0.577	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			29	178	0	0	0	1	0	29	178				
PSME4	23198	broad.mit.edu	37	2	54159848	54159848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54159848C>T	ENST00000404125.1	-	9	1062	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	336					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATGTGATGCTGTTAAACAA	0.383																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(1006-1008)aGc>aAc		proteasome (prosome, macropain) activator subunit 4							133.0	120.0	124.0					2																	54159848		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54159848C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1007G>A	2.37:g.54159848C>T	ENSP00000384211:p.Ser336Asn					PSME4_ENST00000421748.2_Intron	p.S336N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		9	1062	-			336					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.1007G>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113838	0.77210	.	.	ENSG00000068878	ENST00000404125	T	0.04809	3.55	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	M	0.66939	2.045	0.80722	D	1	P	0.35656	0.514	B	0.29176	0.099	T	0.16482	-1.0401	10	0.33141	T	0.24	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	336	Q14997	PSME4_HUMAN	N	336	ENSP00000384211:S336N	ENSP00000374643:S336N	S	-	2	0	PSME4	54013352	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.939000	0.70179	2.865000	0.98341	0.655000	0.94253	AGC		0.383	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		99	336	0	0	0	1	0	99	336				
GJB5	2709	broad.mit.edu	37	1	35223537	35223537	+	Silent	SNP	C	C	T	rs200331025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35223537C>T	ENST00000338513.1	+	2	779	c.606C>T	c.(604-606)ctC>ctT	p.L202L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	202					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20970	0.0		0.0	False		,,,				2504	0.0					ENST00000338513.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(604-606)ctC>ctT		gap junction protein, beta 5, 31.1kDa							120.0	100.0	107.0					1																	35223537		2203	4300	6503	SO:0001819	synonymous_variant	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223537C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.606C>T	1.37:g.35223537C>T							p.L202L	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN			2	779	+		Myeloproliferative disorder(586;0.0393)	202					Q9UPA3	Silent	SNP	ENST00000338513.1	37	c.606C>T	CCDS382.1																																																																																				0.547	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		64	236	0	0	0	1	0	64	236				
IL1RAP	3556	broad.mit.edu	37	3	190347219	190347219	+	Missense_Mutation	SNP	G	G	A	rs142111398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190347219G>A	ENST00000412504.2	+	8	1235	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	328	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GATCTCAAGCGCAGCTATGTC	0.418																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(982-984)cGc>cAc		interleukin 1 receptor accessory protein		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	80.0	74.0	76.0		983,983,983,983,983,983	4.8	1.0	3	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167930.1,NM_001167931.1,NM_002182.3,NM_134470.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	328/571,328/571,328/357,328/688,328/571,328/357	190347219	1,13005	2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190347219G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.983G>A	3.37:g.190347219G>A	ENSP00000412053:p.Arg328His					IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H	p.R328H			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	8	1235	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		328			Ig-like C2-type 3.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.983G>A	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.560049|3.560049	0.65538|0.65538	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|T;T;T;T;T;T;T;T;T	.|0.14022	.|2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.7|5.7	4.83|4.83	0.62350|0.62350	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.117788	.|0.64402	.|N	.|0.000018	T|T	0.31199|0.31199	0.0789|0.0789	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.998;0.998;0.987;0.996	T|T	0.11131|0.11131	-1.0600|-1.0600	5|10	.|0.13853	.|T	.|0.58	.|.	12.3332|12.3332	0.55051|0.55051	0.0813:0.0:0.9187:0.0|0.0813:0.0:0.9187:0.0	.|.	.|187;328;328;328	.|C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.|.;.;IL1AP_HUMAN;.	T|H	165|328;328;328;328;328;328;187;328;328	.|ENSP00000072516:R328H;ENSP00000408893:R328H;ENSP00000412053:R328H;ENSP00000401132:R328H;ENSP00000390541:R328H;ENSP00000409352:R328H;ENSP00000391899:R187H;ENSP00000387371:R328H;ENSP00000314807:R328H	.|ENSP00000072516:R328H	A|R	+|+	1|2	0|0	IL1RAP|IL1RAP	191829913|191829913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.030000|3.030000	0.49720|0.49720	1.431000|1.431000	0.47355|0.47355	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.418	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			34	125	0	0	0	1	0	34	125				
BROX	148362	broad.mit.edu	37	1	222904766	222904766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222904766C>A	ENST00000340934.5	+	12	1463	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T	BROX_ENST00000537020.1_Intron|BROX_ENST00000539697.1_Missense_Mutation_p.P321T	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	353	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCTCGTAGAGCCTATACCTTT	0.388																																						ENST00000340934.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(1057-1059)Cct>Act		BRO1 domain and CAAX motif containing							104.0	107.0	106.0					1																	222904766		2203	4300	6503	SO:0001583	missense	148362					membrane		g.chr1:222904766C>A		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.1057C>A	1.37:g.222904766C>A	ENSP00000343742:p.Pro353Thr					BROX_ENST00000537020.1_Intron|BROX_ENST00000539697.1_Missense_Mutation_p.P321T	p.P353T	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN			12	1463	+			353			BRO1.		B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	c.1057C>A	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	c	28.1	4.891619	0.91889	.	.	ENSG00000162819	ENST00000340934;ENST00000539697	T;T	0.17528	2.27;2.27	5.48	5.48	0.80851	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.47923	-0.9079	10	0.54805	T	0.06	-16.8197	19.7157	0.96119	0.0:1.0:0.0:0.0	.	321;353	B7Z9G5;Q5VW32	.;BROX_HUMAN	T	353;321	ENSP00000343742:P353T;ENSP00000441080:P321T	ENSP00000343742:P353T	P	+	1	0	BROX	220971389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.053000	0.76641	2.749000	0.94314	0.655000	0.94253	CCT		0.388	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		142	406	1	0	2.79522e-57	1	3.50091e-57	142	406				
BBS5	129880	broad.mit.edu	37	2	170349386	170349386	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170349386C>T	ENST00000295240.3	+	6	765	c.389C>T	c.(388-390)gCt>gTt	p.A130V	BBS5_ENST00000392663.2_Missense_Mutation_p.A130V|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A130V|BBS5_ENST00000554017.1_Missense_Mutation_p.A130V	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	130					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTTCATAGAGCTTATGAAACT	0.279									Bardet-Biedl syndrome																													ENST00000295240.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(388-390)gCt>gTt		Bardet-Biedl syndrome 5							54.0	53.0	53.0					2																	170349386		2202	4297	6499	SO:0001583	missense	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170349386C>T	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.389C>T	2.37:g.170349386C>T	ENSP00000295240:p.Ala130Val					RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A130V|BBS5_ENST00000554017.1_Missense_Mutation_p.A130V|BBS5_ENST00000392663.2_Missense_Mutation_p.A130V	p.A130V	NM_152384.2	NP_689597.1					6	765	+								D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.389C>T	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322213	0.60634	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.81914	0.995;0.942;0.966	D	0.88762	0.3258	10	0.41790	T	0.15	-18.0119	14.7904	0.69837	0.0:0.9305:0.0:0.0695	.	130;130;130	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	V	130	ENSP00000295240:A130V;ENSP00000452313:A130V;ENSP00000376431:A130V;ENSP00000424363:A130V	ENSP00000295240:A130V	A	+	2	0	BBS5;RP11-724O16.1	170057632	1.000000	0.71417	0.998000	0.56505	0.076000	0.17211	6.072000	0.71238	1.391000	0.46566	-0.203000	0.12734	GCT		0.279	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		24	114	0	0	0	1	0	24	114				
NPAP1	23742	broad.mit.edu	37	15	24922621	24922621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922621C>A	ENST00000329468.2	+	1	2081	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	536	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTTCCAGTCCCTTCCACCGGG	0.522																																						ENST00000329468.2																			0											c.(1606-1608)cCt>cAt		nuclear pore associated protein 1							185.0	185.0	185.0					15																	24922621		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922621C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1607C>A	15.37:g.24922621C>A	ENSP00000333735:p.Pro536His						p.P536H	NM_018958.2	NP_061831.2					1	2081	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1607C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587379	0.46110	.	.	ENSG00000185823	ENST00000329468	T	0.21191	2.02	1.97	-0.152	0.13407	.	0.496743	0.15175	N	0.276441	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	P	0.60541	0.876	T	0.09443	-1.0674	10	0.72032	D	0.01	.	3.2627	0.06854	0.0:0.5446:0.2762:0.1792	.	536	Q9NZP6	CO002_HUMAN	H	536	ENSP00000333735:P536H	ENSP00000333735:P536H	P	+	2	0	C15orf2	22473714	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.393000	0.07305	-0.032000	0.13758	0.205000	0.17691	CCT		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		219	975	1	0	2.33905e-58	1	2.9338e-58	219	975				
PRMT5	10419	broad.mit.edu	37	14	23398403	23398403	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23398403C>A	ENST00000324366.8	-	1	334				RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.G11V|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.G11V|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.G11V|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553641.1_Intron|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Intron|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GACTAGTCTGCCCTTCTCCGT	0.627																																						ENST00000397441.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(31-33)gGc>gTc		protein arginine methyltransferase 5							69.0	75.0	73.0					14																	23398403		2203	4300	6503	SO:0001627	intron_variant	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23398403C>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.110+57G>T	14.37:g.23398403C>A						PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.G11V|PRMT5_ENST00000216350.8_Missense_Mutation_p.G11V|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000553641.1_Intron	p.G11V	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	1	207	-	all_cancers(95;2.76e-05)		0					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.32G>T	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	7.435	0.639509	0.14386	.	.	ENSG00000100462	ENST00000397441;ENST00000397440;ENST00000216350	.	.	.	5.16	-0.233	0.13078	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.24885	N	0.992208	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.17979	0.02;0.014;0.02	T	0.23261	-1.0193	8	0.27785	T	0.31	.	7.324	0.26545	0.0:0.4492:0.0:0.5508	.	11;11;11	B4DX49;A8MTP3;A8MZ91	.;.;.	V	11	.	ENSP00000216350:G11V	G	-	2	0	PRMT5	22468243	0.841000	0.29509	0.943000	0.38184	0.694000	0.40290	0.187000	0.16998	0.056000	0.16144	-0.253000	0.11424	GGC		0.627	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			80	403	1	0	7.68447e-34	1	9.12355e-34	80	403				
KIAA1804	84451	broad.mit.edu	37	1	233507831	233507831	+	Missense_Mutation	SNP	C	C	T	rs149965923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233507831C>T	ENST00000366624.3	+	6	1861	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	MLK4_ENST00000366623.3_Missense_Mutation_p.R534W	NM_032435.2	NP_115811.2																					CTTGGACAAACGGCGGAGCCT	0.542																																						ENST00000366624.3																			0											c.(1600-1602)Cgg>Tgg				C	TRP/ARG	0,4406		0,0,2203	94.0	92.0	93.0		1600	4.2	1.0	1	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA1804	NM_032435.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	534/1037	233507831	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr1:233507831C>T																												ENST00000366624.3:c.1600C>T	1.37:g.233507831C>T	ENSP00000355583:p.Arg534Trp					MLK4_ENST00000366623.3_Missense_Mutation_p.R534W	p.R534W	NM_032435.2	NP_115811.2					6	1861	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1600C>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667601	0.67814	0.0	1.16E-4	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.13901	2.55;2.55	5.11	4.17	0.49024	.	0.000000	0.64402	D	0.000001	T	0.36441	0.0967	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.20672	-1.0268	10	0.87932	D	0	.	12.7904	0.57530	0.4133:0.5866:0.0:0.0	.	534;534	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	W	534	ENSP00000355582:R534W;ENSP00000355583:R534W	ENSP00000355582:R534W	R	+	1	2	RP5-862P8.2	231574454	1.000000	0.71417	0.980000	0.43619	0.891000	0.51852	1.650000	0.37292	1.316000	0.45131	0.650000	0.86243	CGG		0.542	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			19	428	0	0	0	1	0	19	428				
SLC39A14	23516	broad.mit.edu	37	8	22267616	22267616	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22267616G>T	ENST00000381237.1	+	3	576				SLC39A14_ENST00000359741.5_Missense_Mutation_p.Q205H|SLC39A14_ENST00000289952.5_Intron|SLC39A14_ENST00000240095.6_Intron	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14						cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CGCTATTCCAGCTCATCCCAG	0.582																																						ENST00000359741.5																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(613-615)caG>caT		solute carrier family 39 (zinc transporter), member 14							165.0	128.0	140.0					8																	22267616		2203	4300	6503	SO:0001627	intron_variant	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22267616G>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.457+1607G>T	8.37:g.22267616G>T						SLC39A14_ENST00000289952.5_Intron|SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000240095.6_Intron	p.Q205H	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	4	790	+			205					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.615G>T	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289293	0.40494	.	.	ENSG00000104635	ENST00000359741	T	0.34472	1.36	5.91	5.04	0.67666	.	.	.	.	.	T	0.31638	0.0803	.	.	.	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.06285	-1.0835	8	0.02654	T	1	.	13.8655	0.63585	0.0737:0.0:0.9263:0.0	.	205	B6EU88	.	H	205	ENSP00000352779:Q205H	ENSP00000352779:Q205H	Q	+	3	2	SLC39A14	22323561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.649000	0.74364	1.506000	0.48736	0.655000	0.94253	CAG		0.582	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		12	497	1	0	0.105934	1	0.106132	12	497				
TBC1D5	9779	broad.mit.edu	37	3	17418045	17418045	+	Missense_Mutation	SNP	G	G	T	rs541295334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17418045G>T	ENST00000253692.7	-	10	2337	c.673C>A	c.(673-675)Cta>Ata	p.L225I	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I|TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	225	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTGGCATGTAGAAAAGCTTGG	0.413																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(673-675)Cta>Ata		TBC1 domain family, member 5							94.0	100.0	98.0					3																	17418045		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17418045G>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.673C>A	3.37:g.17418045G>T	ENSP00000253692:p.Leu225Ile					TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I	p.L225I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			10	2337	-			225			Rab-GAP TBC.		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.673C>A	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269862	0.40095	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.44482	1.48;1.48;1.48;0.92	4.97	4.08	0.47627	Rab-GAP/TBC domain (4);	0.221938	0.39834	N	0.001255	T	0.36110	0.0955	L	0.29908	0.895	0.33777	D	0.62378	B;P;B	0.37688	0.038;0.605;0.237	B;P;B	0.48334	0.071;0.574;0.292	T	0.47674	-0.9099	10	0.37606	T	0.19	-11.6177	4.6907	0.12780	0.3169:0.0:0.6831:0.0	.	177;225;225	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	I	225;225;225;177	ENSP00000253692:L225I;ENSP00000398127:L225I;ENSP00000402935:L225I;ENSP00000411925:L177I	ENSP00000253692:L225I	L	-	1	2	TBC1D5	17393049	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.804000	0.62554	2.319000	0.78375	0.585000	0.79938	CTA		0.413	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		65	346	1	0	4.79706e-38	1	5.77216e-38	65	346				
CASP4	837	broad.mit.edu	37	11	104822727	104822727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104822727G>A	ENST00000444739.2	-	3	1178	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	CASP4_ENST00000393150.3_Missense_Mutation_p.P34S|CASP4_ENST00000531333.1_Intron	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	90	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCCATATTCGGATGAGCTGCA	0.443																																						ENST00000444739.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(268-270)Ccg>Tcg		caspase 4, apoptosis-related cysteine peptidase							88.0	80.0	83.0					11																	104822727		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104822727G>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.268C>T	11.37:g.104822727G>A	ENSP00000388566:p.Pro90Ser					CASP4_ENST00000531333.1_Intron|CASP4_ENST00000393150.3_Missense_Mutation_p.P34S	p.P90S	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	3	1178	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	90			CARD.		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.268C>T	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	0.753	-0.772249	0.02951	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.07800	4.88;4.52;3.16	3.9	-6.11	0.02131	DEATH-like (1);	1.198120	0.05940	N	0.636805	T	0.02304	0.0071	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.46176	-0.9210	10	0.09590	T	0.72	.	6.0759	0.19915	0.3684:0.2838:0.3478:0.0	.	90;90;90	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	S	90;34;43;90	ENSP00000388566:P90S;ENSP00000376857:P34S;ENSP00000401673:P90S	ENSP00000347741:P43S	P	-	1	0	CASP4	104327937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.784000	0.04633	-0.969000	0.03573	-0.216000	0.12614	CCG		0.443	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		62	250	0	0	0	1	0	62	250				
CIT	11113	broad.mit.edu	37	12	120195263	120195263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120195263C>T	ENST00000261833.7	-	21	2544	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	CIT_ENST00000392521.2_Missense_Mutation_p.R873Q|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	831					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGTTTTCGGTTCTGGGC	0.542																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2617-2619)cGa>cAa		citron (rho-interacting, serine/threonine kinase 21)							182.0	172.0	175.0					12																	120195263		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120195263C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2492G>A	12.37:g.120195263C>T	ENSP00000261833:p.Arg831Gln					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R831Q	p.R873Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	22	2673	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	831					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2618G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.266140|2.266140	0.40095|0.40095	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.65549	.|-0.09;-0.16	5.54|5.54	4.65|4.65	0.58169|0.58169	.|.	.|0.334286	.|0.29444	.|N	.|0.012140	T|T	0.33527|0.33527	0.0866|0.0866	N|N	0.03608|0.03608	-0.345|-0.345	0.34945|0.34945	D|D	0.750651|0.750651	.|B;B;B	.|0.09022	.|0.002;0.001;0.001	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.34477|0.34477	-0.9827|-0.9827	5|10	.|0.13853	.|T	.|0.58	.|.	8.5349|8.5349	0.33357|0.33357	0.0:0.7713:0.0:0.2287|0.0:0.7713:0.0:0.2287	.|.	.|873;831;364	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|Q	459|873;831	.|ENSP00000376306:R873Q;ENSP00000261833:R831Q	.|ENSP00000261833:R831Q	E|R	-|-	1|2	0|0	CIT|CIT	118679646|118679646	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	3.232000|3.232000	0.51302|0.51302	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.542	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		263	1007	0	0	0	1	0	263	1007				
RYR1	6261	broad.mit.edu	37	19	39062895	39062895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39062895C>T	ENST00000359596.3	+	95	13983	c.13983C>T	c.(13981-13983)ggC>ggT	p.G4661G	RYR1_ENST00000355481.4_Silent_p.G4656G|RYR1_ENST00000360985.3_Silent_p.G4656G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4661					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCATCATTGGCTATAATTGTC	0.597																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(13966-13968)ggC>ggT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						97.0	86.0	90.0					19																	39062895		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39062895C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13983C>T	19.37:g.39062895C>T						RYR1_ENST00000360985.3_Silent_p.G4656G|RYR1_ENST00000359596.3_Silent_p.G4661G	p.G4656G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		94	14099	+	all_cancers(60;7.91e-06)		4661					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.13968C>T	CCDS33011.1																																																																																				0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			50	430	0	0	0	1	0	50	430				
RBM22	55696	broad.mit.edu	37	5	150078092	150078092	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150078092G>A	ENST00000199814.4	-	4	361	c.240C>T	c.(238-240)gtC>gtT	p.V80V	RBM22_ENST00000447771.2_Intron|RBM22_ENST00000540000.1_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	80					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCTGACAGACATTCTTCA	0.463																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(238-240)gtC>gtT		RNA binding motif protein 22							124.0	111.0	116.0					5																	150078092		2203	4300	6503	SO:0001819	synonymous_variant	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150078092G>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.240C>T	5.37:g.150078092G>A						RBM22_ENST00000447771.2_Intron|RBM22_ENST00000540000.1_Intron	p.V80V	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	361	-		Medulloblastoma(196;0.167)	80					A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	37	c.240C>T	CCDS34278.1																																																																																				0.463	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		24	571	0	0	0	1	0	24	571				
SET	6418	broad.mit.edu	37	9	131455036	131455036	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131455036A>C	ENST00000372692.4	+	4	650	c.409A>C	c.(409-411)Ata>Cta	p.I137L	SET_ENST00000477806.1_3'UTR|SET_ENST00000322030.8_Missense_Mutation_p.I124L|SET_ENST00000372688.4_Missense_Mutation_p.I113L|SET_ENST00000409104.3_Missense_Mutation_p.I115L	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	137	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGGTTACAGAATAGATTTTGT	0.363			T	NUP214	AML																																	ENST00000322030.8				Dom	yes		9	9q34	6418	T	SET translocation			L	NUP214		AML		0				endometrium(2)|kidney(1)|lung(2)	5						c.(370-372)Ata>Cta		SET nuclear oncogene							76.0	78.0	77.0					9																	131455036		2203	4300	6503	SO:0001583	missense	6418				DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr9:131455036A>C	M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.409A>C	9.37:g.131455036A>C	ENSP00000361777:p.Ile137Leu					SET_ENST00000409104.3_Missense_Mutation_p.I115L|SET_ENST00000372692.4_Missense_Mutation_p.I137L|SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.I113L	p.I124L	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN		GBM - Glioblastoma multiforme(294;3.1e-09)	4	727	+		Myeloproliferative disorder(178;0.204)	137					A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	ENST00000372692.4	37	c.370A>C	CCDS48037.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935384	0.92458	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.39514	1.22	0.80722	D	1	B;P;P	0.44195	0.391;0.478;0.828	B;B;P	0.48524	0.432;0.273;0.58	T	0.01068	-1.1462	10	0.87932	D	0	.	14.3996	0.67034	1.0:0.0:0.0:0.0	.	113;124;137	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	L	137;115;124;113;112	ENSP00000361777:I137L;ENSP00000387321:I115L;ENSP00000318012:I124L;ENSP00000361773:I113L;ENSP00000361771:I112L	ENSP00000318012:I124L	I	+	1	0	SET	130494857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.655000	0.91098	1.995000	0.58328	0.454000	0.30748	ATA		0.363	SET-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054476.2	NM_001122821		31	185	0	0	0	1	0	31	185				
PTGDS	5730	broad.mit.edu	37	9	139874451	139874451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139874451G>A	ENST00000371625.3	+	4	459	c.385G>A	c.(385-387)Gcg>Acg	p.A129T	LCNL1_ENST00000408973.2_5'Flank|PTGDS_ENST00000224167.2_Missense_Mutation_p.A163T	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	129					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGACCAGTACGCGCTGCTGTA	0.662																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(487-489)Gcg>Acg		prostaglandin D2 synthase 21kDa (brain)							85.0	88.0	87.0					9																	139874451		2203	4300	6503	SO:0001583	missense	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139874451G>A	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.385G>A	9.37:g.139874451G>A	ENSP00000360687:p.Ala129Thr					PTGDS_ENST00000371625.3_Missense_Mutation_p.A129T	p.A163T			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	4	562	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	129					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.487G>A	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.7|24.7	4.559762|4.559762	0.86335|0.86335	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625|ENST00000446677	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.178344|.	0.39146|.	N|.	0.001446|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.82923|0.82923	2.615|2.615	0.48571|0.48571	D|D	0.99967|0.99967	D|.	0.76494|.	0.999|.	P|.	0.59115|.	0.852|.	T|T	0.78800|0.78800	-0.2062|-0.2062	10|5	0.66056|.	D|.	0.02|.	-0.5952|-0.5952	13.7612|13.7612	0.62968|0.62968	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	129|.	P41222|.	PTGDS_HUMAN|.	T|H	163;163;129|151	ENSP00000224167:A163T;ENSP00000392633:A163T;ENSP00000360687:A129T|.	ENSP00000224167:A163T|.	A|R	+|+	1|2	0|0	PTGDS|PTGDS	138994272|138994272	0.788000|0.788000	0.28762|0.28762	0.114000|0.114000	0.21550|0.21550	0.019000|0.019000	0.09904|0.09904	2.412000|2.412000	0.44609|0.44609	2.391000|2.391000	0.81399|0.81399	0.651000|0.651000	0.88453|0.88453	GCG|CGC		0.662	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		136	657	0	0	0	1	0	136	657				
STXBP6	29091	broad.mit.edu	37	14	25288317	25288317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25288317G>A	ENST00000323944.5	-	5	986	c.535C>T	c.(535-537)Cga>Tga	p.R179*	STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	179	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CGGCCTAATCGCTCTCCACGC	0.567																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(535-537)Cga>Tga		syntaxin binding protein 6 (amisyn)							184.0	157.0	166.0					14																	25288317		2203	4300	6503	SO:0001587	stop_gained	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25288317G>A	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.535C>T	14.37:g.25288317G>A	ENSP00000324302:p.Arg179*					STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*	p.R179*			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	5	986	-			179			v-SNARE coiled-coil homology.		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Nonsense_Mutation	SNP	ENST00000323944.5	37	c.535C>T	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000043	0.54147	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000548369;ENST00000358326	.	.	.	5.35	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-10.9822	14.3759	0.66874	0.0:0.0:0.5902:0.4098	.	.	.	.	X	179;179;179;179;179;179;77;179	.	ENSP00000324302:R179X	R	-	1	2	STXBP6	24358157	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	2.682000	0.46934	0.236000	0.21180	-2.160000	0.00327	CGA		0.567	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			164	674	0	0	0	1	0	164	674				
MEGF8	1954	broad.mit.edu	37	19	42848687	42848687	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42848687C>A	ENST00000251268.6	+	11	1883	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	MEGF8_ENST00000334370.4_Missense_Mutation_p.P628H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	628					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCACGGGGACCTGGCACCCTG	0.711																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1882-1884)cCt>cAt		multiple EGF-like-domains 8							17.0	21.0	20.0					19																	42848687		2201	4296	6497	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848687C>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1883C>A	19.37:g.42848687C>A	ENSP00000251268:p.Pro628His					MEGF8_ENST00000251268.6_Missense_Mutation_p.P628H	p.P628H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			11	2518	+		Prostate(69;0.00682)	652					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.1883C>A		.	.	.	.	.	.	.	.	.	.	C	9.373	1.070957	0.20147	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.06;2.05	4.64	4.64	0.57946	.	0.155915	0.40908	D	0.000999	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.991;0.997	P;P	0.57548	0.687;0.823	T	0.05632	-1.0873	10	0.27785	T	0.31	-8.9146	8.7811	0.34792	0.0:0.8953:0.0:0.1047	.	628;628	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	628	ENSP00000334219:P628H;ENSP00000251268:P628H	ENSP00000251268:P628H	P	+	2	0	MEGF8	47540527	0.999000	0.42202	0.415000	0.26534	0.245000	0.25701	5.236000	0.65354	2.139000	0.66308	0.306000	0.20318	CCT		0.711	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		51	151	1	0	5.73435e-26	1	6.59582e-26	51	151				
NRIP1	8204	broad.mit.edu	37	21	16339699	16339699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:16339699C>T	ENST00000400202.1	-	3	1527	c.815G>A	c.(814-816)aGc>aAc	p.S272N	NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N|NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	272	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGGGCTTCGCTTGACAGAAG	0.453																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(814-816)aGc>aAc		nuclear receptor interacting protein 1							157.0	142.0	147.0					21																	16339699		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339699C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.815G>A	21.37:g.16339699C>T	ENSP00000383063:p.Ser272Asn					NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N|NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N	p.S272N			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1527	-			272			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.815G>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398344	0.83120	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.22134	1.97;1.97;1.97	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.87932	D	0	-15.7639	20.4753	0.99175	0.0:1.0:0.0:0.0	.	272	P48552	NRIP1_HUMAN	N	272	ENSP00000383060:S272N;ENSP00000383063:S272N;ENSP00000327213:S272N	ENSP00000327213:S272N	S	-	2	0	NRIP1	15261570	1.000000	0.71417	0.975000	0.42487	0.967000	0.64934	7.487000	0.81328	2.844000	0.97970	0.650000	0.86243	AGC		0.453	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		70	383	0	0	0	1	0	70	383				
ANKRD28	23243	broad.mit.edu	37	3	15756164	15756164	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15756164C>T	ENST00000399451.2	-	9	1274		c.e9-1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATCTTTACTCTGGGGGGGGA	0.363																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.e9-1		ankyrin repeat domain 28							56.0	60.0	59.0					3																	15756164		1812	4070	5882	SO:0001630	splice_region_variant	23243					nucleoplasm	protein binding	g.chr3:15756164C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.907-1G>A	3.37:g.15756164C>T						ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			9	1274	-								B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	37		CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629505	0.67015	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7519	0.85488	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15731168	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.968000	0.70413	2.446000	0.82766	0.561000	0.74099	.		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	19	93	0	0	0	1	0	19	93				
NCK1	4690	broad.mit.edu	37	3	136664506	136664506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664506G>A	ENST00000481752.1	+	3	472	c.308G>A	c.(307-309)cGt>cAt	p.R103H	NCK1_ENST00000288986.2_Missense_Mutation_p.R103H|NCK1_ENST00000469404.1_Missense_Mutation_p.R39H			P16333	NCK1_HUMAN	NCK adaptor protein 1	103					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCAGGGGAACGTCTCTATGAC	0.418																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(115-117)cGt>cAt		NCK adaptor protein 1							120.0	121.0	121.0					3																	136664506		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664506G>A	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.308G>A	3.37:g.136664506G>A	ENSP00000417273:p.Arg103His					NCK1_ENST00000288986.2_Missense_Mutation_p.R103H|NCK1_ENST00000481752.1_Missense_Mutation_p.R103H	p.R39H	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			2	207	+			103			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.116G>A	CCDS3092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.808386|3.808386	0.70797|0.70797	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911|ENST00000496489	T;T;T;T;T;T;T|.	0.69306|.	-0.34;-0.34;1.3;1.09;2.29;-0.39;2.29|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Src homology-3 domain (1);|.	0.055856|.	0.64402|.	D|.	0.000001|.	T|T	0.75019|0.75019	0.3793|0.3793	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.915|.	D;B|.	0.72625|.	0.978;0.21|.	T|T	0.71646|0.71646	-0.4530|-0.4530	10|5	0.21014|.	T|.	0.42|.	-23.5168|-23.5168	18.3537|18.3537	0.90348|0.90348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39;103|.	B7Z751;P16333|.	.;NCK1_HUMAN|.	H|I	103;103;103;103;103;39;39|91	ENSP00000288986:R103H;ENSP00000417273:R103H;ENSP00000419302:R103H;ENSP00000419677:R103H;ENSP00000417729:R103H;ENSP00000419631:R39H;ENSP00000418060:R39H|.	ENSP00000288986:R103H|.	R|V	+|+	2|1	0|0	NCK1|NCK1	138147196|138147196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.367000|9.367000	0.97148|0.97148	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.418	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		31	425	0	0	0	1	0	31	425				
ABCA6	23460	broad.mit.edu	37	17	67109448	67109448	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67109448T>G	ENST00000284425.2	-	15	2130	c.1956A>C	c.(1954-1956)caA>caC	p.Q652H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	652	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGCTCCACACTTGATCTCTGG	0.413																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1954-1956)caA>caC		ATP-binding cassette, sub-family A (ABC1), member 6							81.0	76.0	77.0					17																	67109448		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67109448T>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1956A>C	17.37:g.67109448T>G	ENSP00000284425:p.Gln652His						p.Q652H	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			15	2130	-	Breast(10;5.65e-12)		652			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1956A>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	4.388	0.071542	0.08436	.	.	ENSG00000154262	ENST00000284425	D	0.93763	-3.28	4.93	3.85	0.44370	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.061280	0.07388	N	0.888512	D	0.87977	0.6314	L	0.31804	0.96	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.77464	-0.2578	10	0.27082	T	0.32	.	6.0	0.19515	0.0:0.0892:0.2722:0.6386	.	652	Q8N139	ABCA6_HUMAN	H	652	ENSP00000284425:Q652H	ENSP00000284425:Q652H	Q	-	3	2	ABCA6	64621043	0.001000	0.12720	0.024000	0.17045	0.088000	0.18126	-0.164000	0.09983	1.015000	0.39444	0.523000	0.50628	CAA		0.413	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		49	185	0	0	0	1	0	49	185				
KDELR2	11014	broad.mit.edu	37	7	6523680	6523680	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6523680A>C	ENST00000258739.4	-	1	193	c.9T>G	c.(7-9)atT>atG	p.I3M	FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N|DAGLB_ENST00000436575.1_De_novo_Start_OutOfFrame|KDELR2_ENST00000463747.1_5'UTR|KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	3					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCAGCCGGAAAATGTTCATgg	0.726																																						ENST00000436575.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26								diacylglycerol lipase, beta							10.0	12.0	11.0					7																	6523680		2184	4274	6458	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6523680A>C	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.9T>G	7.37:g.6523680A>C	ENSP00000258739:p.Ile3Met					FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N|KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M|KDELR2_ENST00000463747.1_5'UTR|KDELR2_ENST00000258739.4_Missense_Mutation_p.I3M				Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	0	141	-		Ovarian(82;0.232)						A4D2P4|Q6IPC5|Q96E30	Translation_Start_Site	SNP	ENST00000258739.4	37		CCDS5351.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002241	0.74932	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	T	0.49139	0.79	5.12	3.28	0.37604	.	0.048586	0.85682	D	0.000000	T	0.73094	0.3543	H	0.95982	3.75	0.58432	D	0.999999	D;B	0.53619	0.961;0.268	P;B	0.60473	0.875;0.318	T	0.77078	-0.2721	10	0.72032	D	0.01	-16.5231	9.7979	0.40746	0.074:0.0:0.7871:0.1389	.	3;3	P33947-2;P33947	.;ERD22_HUMAN	M	3	ENSP00000258739:I3M	ENSP00000258739:I3M	I	-	3	3	KDELR2	6490205	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.576000	0.23744	0.531000	0.28639	-0.253000	0.11424	ATT		0.726	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			15	62	0	0	0	1	0	15	62				
GPR148	344561	broad.mit.edu	37	2	131486869	131486869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486869C>A	ENST00000309926.4	+	1	227	c.145C>A	c.(145-147)Ctg>Atg	p.L49M		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	49				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAGCTCCATGCTGTACTGGCT	0.637																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(145-147)Ctg>Atg		G protein-coupled receptor 148							76.0	68.0	71.0					2																	131486869		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486869C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.145C>A	2.37:g.131486869C>A	ENSP00000308908:p.Leu49Met						p.L49M	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	227	+	Colorectal(110;0.1)		49	CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).				Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.145C>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	16.89	3.247744	0.59103	.	.	ENSG00000173302	ENST00000309926	T	0.38401	1.14	2.77	2.77	0.32553	.	0.000000	0.38381	U	0.001712	T	0.35307	0.0927	N	0.08118	0	0.27795	N	0.942698	D	0.89917	1.0	D	0.83275	0.996	T	0.18618	-1.0331	10	0.32370	T	0.25	-4.6591	11.7043	0.51590	0.0:1.0:0.0:0.0	.	49	Q8TDV2	GP148_HUMAN	M	49	ENSP00000308908:L49M	ENSP00000308908:L49M	L	+	1	2	GPR148	131203339	0.990000	0.36364	0.149000	0.22428	0.139000	0.21198	2.612000	0.46343	1.496000	0.48567	0.462000	0.41574	CTG		0.637	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		94	246	1	0	4.92795e-40	1	5.96786e-40	94	246				
ARMCX5	64860	broad.mit.edu	37	X	101857630	101857630	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857630G>T	ENST00000604957.1	+	1	3183	c.561G>T	c.(559-561)tgG>tgT	p.W187C	ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	187										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGTTCTGGCCTGAAGAAG	0.458																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(559-561)tgG>tgT		armadillo repeat containing, X-linked 5							125.0	128.0	127.0					X																	101857630		2202	4300	6502	SO:0001583	missense	64860						binding	g.chrX:101857630G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.561G>T	X.37:g.101857630G>T	ENSP00000474720:p.Trp187Cys					ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.1_RNA	p.W187C	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3183	+			187					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.561G>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327715	0.41197	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	3.59	3.59	0.41128	.	0.000000	0.39274	N	0.001411	T	0.28928	0.0718	L	0.29908	0.895	0.53688	D	0.999974	D	0.76494	0.999	P	0.61275	0.886	T	0.03423	-1.1038	10	0.56958	D	0.05	-3.0791	12.3775	0.55289	0.0:0.0:1.0:0.0	.	187	Q6P1M9	ARMX5_HUMAN	C	187	ENSP00000246174:W187C;ENSP00000439001:W187C;ENSP00000446385:W187C;ENSP00000445851:W187C;ENSP00000361827:W187C	ENSP00000246174:W187C	W	+	3	0	ARMCX5	101744286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.695000	0.61767	2.069000	0.61940	0.600000	0.82982	TGG		0.458	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		134	476	1	0	3.83742e-62	1	4.83556e-62	134	476				
DNAH1	25981	broad.mit.edu	37	3	52357834	52357834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357834G>A	ENST00000420323.2	+	3	605	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	115	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTATGTCGTGGCCCCCGA	0.627																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(343-345)cGt>cAt		dynein, axonemal, heavy chain 1							46.0	48.0	47.0					3																	52357834		1934	4133	6067	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52357834G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.344G>A	3.37:g.52357834G>A	ENSP00000401514:p.Arg115His						p.R115H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	605	+			115			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.344G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919947	0.17982	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.07	1.11	0.20524	.	1.333110	0.05233	N	0.510691	T	0.14399	0.0348	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.15141	0.012;0.01	B;B	0.08055	0.002;0.003	T	0.26950	-1.0088	10	0.35671	T	0.21	.	5.2573	0.15553	0.2825:0.2603:0.4572:0.0	.	115;115	C9JXH6;Q9P2D7-3	.;.	H	115	ENSP00000401514:R115H	ENSP00000401514:R115H	R	+	2	0	DNAH1	52332874	0.067000	0.21026	0.299000	0.25016	0.005000	0.04900	1.169000	0.31871	0.336000	0.23639	-0.150000	0.13652	CGT		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		11	29	0	0	0	1	0	11	29				
EEF1D	1936	broad.mit.edu	37	8	144663295	144663295	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144663295T>C	ENST00000529272.1	-	5	719	c.319A>G	c.(319-321)Aag>Gag	p.K107E	EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000532400.1_Intron|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|EEF1D_ENST00000532741.1_Missense_Mutation_p.K523E|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E|NAPRT1_ENST00000276844.7_5'Flank|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	107	Leucine-zipper.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCTCCAGCTTGGAGATGGCC	0.692																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1567-1569)Aag>Gag		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							38.0	40.0	39.0					8																	144663295		2203	4298	6501	SO:0001583	missense	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144663295T>C	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.319A>G	8.37:g.144663295T>C	ENSP00000434872:p.Lys107Glu					EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E|EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E|EEF1D_ENST00000529272.1_Missense_Mutation_p.K107E|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000532400.1_Intron	p.K523E			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		5	1795	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		107					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.1567A>G	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418226	0.83449	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749	.	.	.	4.8	3.62	0.41486	.	0.093320	0.64402	D	0.000001	T	0.75488	0.3856	M	0.85197	2.74	0.48452	D	0.999657	B;B;D;B;D;P	0.62365	0.031;0.267;0.99;0.148;0.991;0.528	B;B;P;B;P;B	0.59357	0.023;0.118;0.856;0.046;0.792;0.234	T	0.75947	-0.3138	9	0.48119	T	0.1	.	9.989	0.41858	0.0:0.0:0.1702:0.8298	.	88;473;401;107;523;473	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	E	107;523;88;473;83;107;107;473;401;107;473;64;83;107;83;107;107;107;107;107;88;123	.	ENSP00000317399:K107E	K	-	1	0	EEF1D	144734438	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	2.572000	0.45999	0.782000	0.33613	0.374000	0.22700	AAG		0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		23	365	0	0	0	1	0	23	365				
TSKS	60385	broad.mit.edu	37	19	50243181	50243181	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50243181A>G	ENST00000246801.3	-	11	1713	c.1631T>C	c.(1630-1632)aTg>aCg	p.M544T	TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	544					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAGAGTGGCCATCTTCTCCCT	0.592																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1630-1632)aTg>aCg		testis-specific serine kinase substrate							93.0	85.0	88.0					19																	50243181		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243181A>G	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1631T>C	19.37:g.50243181A>G	ENSP00000246801:p.Met544Thr					TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	p.M544T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1713	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	544					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1631T>C	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	A	2.835	-0.241732	0.05906	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.27890	1.64;1.64	5.44	2.23	0.28157	.	0.857574	0.09841	N	0.748920	T	0.14270	0.0345	N	0.08118	0	0.23204	N	0.998125	B	0.11235	0.004	B	0.11329	0.006	T	0.32079	-0.9920	10	0.28530	T	0.3	-9.4709	4.2281	0.10590	0.6446:0.1749:0.1805:0.0	.	544	Q9UJT2	TSKS_HUMAN	T	544;344	ENSP00000246801:M544T;ENSP00000351691:M344T	ENSP00000246801:M544T	M	-	2	0	TSKS	54934993	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	0.878000	0.28126	0.070000	0.16634	0.496000	0.49642	ATG		0.592	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		69	411	0	0	0	1	0	69	411				
WNT8A	7478	broad.mit.edu	37	5	137424756	137424756	+	Missense_Mutation	SNP	C	C	A	rs62383479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424756C>A	ENST00000398754.1	+	5	513	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	WNT8A_ENST00000506684.1_Missense_Mutation_p.L188M	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	170					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCGGCAGACTGGTGGGTAT	0.488																																						ENST00000506684.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18						c.(562-564)Ctg>Atg		wingless-type MMTV integration site family, member 8A							97.0	110.0	106.0					5																	137424756		2203	4300	6503	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137424756C>A	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.508C>A	5.37:g.137424756C>A	ENSP00000381739:p.Leu170Met					WNT8A_ENST00000398754.1_Missense_Mutation_p.L170M	p.L188M			Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	798	+			170					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.562C>A	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891650	0.72524	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76316	-1.01;-1.01;-1.01	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	L	0.52759	1.655	0.80722	D	1	D;D;D	0.64830	0.979;0.979;0.994	D;D;D	0.65140	0.913;0.913;0.932	D	0.84319	0.0515	10	0.52906	T	0.07	.	19.5787	0.95455	0.0:1.0:0.0:0.0	rs62383479	188;188;170	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	M	188;188;170	ENSP00000426653:L188M;ENSP00000424809:L188M;ENSP00000381739:L170M	ENSP00000354726:L170M	L	+	1	2	WNT8A	137452655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.547000	0.45786	2.941000	0.99782	0.655000	0.94253	CTG		0.488	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		120	514	1	0	1.49884e-55	1	1.87369e-55	120	514				
FAM65C	140876	broad.mit.edu	37	20	49214249	49214249	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49214249T>G	ENST00000327979.2	-	14	2059		c.e14-2		FAM65C_ENST00000535356.1_Splice_Site|FAM65C_ENST00000045083.2_Splice_Site			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C											endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCAGGGCTGTGGACGAAG	0.662																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e14-2		family with sequence similarity 65, member C							43.0	32.0	36.0					20																	49214249		2203	4300	6503	SO:0001630	splice_region_variant	140876							g.chr20:49214249T>G	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1648-2A>C	20.37:g.49214249T>G						FAM65C_ENST00000045083.2_Splice_Site|FAM65C_ENST00000535356.1_Splice_Site				Q96MK2	FA65C_HUMAN			14	2059	-								Q5QPB6|Q9NQQ2	Splice_Site	SNP	ENST00000327979.2	37		CCDS13431.2	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039431	0.35989	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5877	0.50929	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM65C	48647656	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.106000	0.57804	1.789000	0.52484	0.459000	0.35465	.		0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		Intron	20	82	0	0	0	1	0	20	82				
NUP210L	91181	broad.mit.edu	37	1	154026854	154026854	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154026854T>G	ENST00000368559.3	-	25	3404	c.3333A>C	c.(3331-3333)caA>caC	p.Q1111H	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H|NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1111					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAACGATGGATTGGGGCTGGG	0.458																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3331-3333)caA>caC		nucleoporin 210kDa-like							94.0	91.0	92.0					1																	154026854		1913	4116	6029	SO:0001583	missense	91181					integral to membrane		g.chr1:154026854T>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3333A>C	1.37:g.154026854T>G	ENSP00000357547:p.Gln1111His					NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H|NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H	p.Q1111H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		25	3404	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1111					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3333A>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622680	0.66787	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.43688	0.94;0.94;0.94	5.03	-4.47	0.03525	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.56097	D	0.000024	T	0.45776	0.1359	M	0.75447	2.3	0.31872	N	0.619558	D;D	0.76494	0.998;0.999	D;D	0.87578	0.993;0.998	T	0.56111	-0.8033	10	0.49607	T	0.09	-15.7413	13.811	0.63264	0.0:0.5615:0.0:0.4385	.	1111;1111	E7EP56;Q5VU65	.;P210L_HUMAN	H	1111;44;1111	ENSP00000357547:Q1111H;ENSP00000357541:Q44H;ENSP00000271854:Q1111H	ENSP00000271854:Q1111H	Q	-	3	2	NUP210L	152293478	0.006000	0.16342	0.859000	0.33776	0.958000	0.62258	-1.428000	0.02439	-0.754000	0.04715	-0.371000	0.07208	CAA		0.458	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		111	322	0	0	0	1	0	111	322				
ACAP2	23527	broad.mit.edu	37	3	195013054	195013054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195013054G>A	ENST00000326793.6	-	19	2123	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	631					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CCCAGTTCACGTCTGCACCAT	0.413																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1891-1893)gaC>gaT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							165.0	163.0	163.0					3																	195013054		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195013054G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1893C>T	3.37:g.195013054G>A							p.D631D	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			19	2123	-			631					A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.1893C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	5.192	0.220917	0.09863	.	.	ENSG00000114331	ENST00000450200	.	.	.	5.43	-1.23	0.09465	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	.	5.4496	0.16556	0.5395:0.0:0.2902:0.1702	.	.	.	.	C	225	.	.	R	-	1	0	ACAP2	196494343	0.926000	0.31397	0.997000	0.53966	0.731000	0.41821	0.075000	0.14686	-0.150000	0.11195	-2.006000	0.00442	CGT		0.413	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		99	498	0	0	0	1	0	99	498				
UBTD2	92181	broad.mit.edu	37	5	171638977	171638977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638977C>T	ENST00000393792.2	-	3	967	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	188	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTACCTGGTTCCACTCCCTCT	0.488																																						ENST00000393792.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10						c.(562-564)Gaa>Aaa		ubiquitin domain containing 2							134.0	121.0	125.0					5																	171638977		2203	4300	6503	SO:0001583	missense	92181					cytoplasm		g.chr5:171638977C>T	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.562G>A	5.37:g.171638977C>T	ENSP00000377381:p.Glu188Lys						p.E188K	NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	967	-	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	188			Ubiquitin-like.		Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	37	c.562G>A	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151244	0.38021	.	.	ENSG00000168246	ENST00000393792	T	0.73897	-0.79	5.96	5.96	0.96718	Ubiquitin supergroup (1);Ubiquitin (2);	0.237161	0.49305	D	0.000146	T	0.65811	0.2727	N	0.25890	0.77	0.50632	D	0.999882	B	0.26935	0.164	B	0.29077	0.098	T	0.60068	-0.7335	10	0.30078	T	0.28	-13.0712	17.9158	0.88950	0.0:1.0:0.0:0.0	.	188	Q8WUN7	UBTD2_HUMAN	K	188	ENSP00000377381:E188K	ENSP00000377381:E188K	E	-	1	0	UBTD2	171571582	0.997000	0.39634	0.980000	0.43619	0.095000	0.18619	3.298000	0.51818	2.832000	0.97577	0.655000	0.94253	GAA		0.488	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		122	548	0	0	0	1	0	122	548				
CCR7	1236	broad.mit.edu	37	17	38711511	38711511	+	Missense_Mutation	SNP	G	G	A	rs141181444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38711511G>A	ENST00000246657.2	-	3	682	c.620C>T	c.(619-621)gCg>gTg	p.A207V	CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	207					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GCATCGCATCGCTTGCTCACT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		22267	0.0		0.001	False		,,,				2504	0.0					ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(619-621)gCg>gTg		chemokine (C-C motif) receptor 7							73.0	63.0	66.0					17																	38711511		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711511G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.620C>T	17.37:g.38711511G>A	ENSP00000246657:p.Ala207Val					CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	p.A207V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	682	-		Breast(137;0.000496)	207						Missense_Mutation	SNP	ENST00000246657.2	37	c.620C>T	CCDS11369.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.122	-0.655134	0.03480	.	.	ENSG00000126353	ENST00000246657	T	0.36157	1.27	4.45	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	2.531820	0.01360	N	0.012206	T	0.13970	0.0338	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.02654	T	1	.	7.2012	0.25881	0.1594:0.0:0.6936:0.147	.	207	P32248	CCR7_HUMAN	V	207	ENSP00000246657:A207V	ENSP00000246657:A207V	A	-	2	0	CCR7	35965037	0.006000	0.16342	0.001000	0.08648	0.204000	0.24138	1.560000	0.36331	0.820000	0.34516	0.561000	0.74099	GCG		0.572	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			30	144	0	0	0	1	0	30	144				
RBM7	10179	broad.mit.edu	37	11	114278379	114278379	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278379G>T	ENST00000540163.1	+	5	1293	c.651G>T	c.(649-651)caG>caT	p.Q217H	RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q218H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q97H|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	217					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GCCGGGAACAGCGTTACACTG	0.443																																						ENST00000540163.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(649-651)caG>caT		RNA binding motif protein 7							114.0	99.0	104.0					11																	114278379		2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114278379G>T	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.651G>T	11.37:g.114278379G>T	ENSP00000439918:p.Gln217His					RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q218H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q97H	p.Q217H			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	5	1293	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	217					B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.651G>T	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052694	0.36181	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.29142	1.58;2.6	5.66	2.72	0.32119	.	0.287655	0.34435	N	0.003965	T	0.24890	0.0604	L	0.50333	1.59	0.34958	D	0.75194	B;B	0.13594	0.002;0.008	B;B	0.11329	0.003;0.006	T	0.16247	-1.0409	10	0.72032	D	0.01	-0.2045	5.4956	0.16802	0.0764:0.1402:0.6381:0.1454	.	217;217	Q6IRX3;Q9Y580	.;RBM7_HUMAN	H	217;218;97	ENSP00000439918:Q217H;ENSP00000364639:Q218H	ENSP00000364639:Q218H	Q	+	3	2	RBM7	113783589	0.788000	0.28762	0.731000	0.30826	0.997000	0.91878	0.323000	0.19593	0.298000	0.22638	0.585000	0.79938	CAG		0.443	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		91	374	1	0	7.69131e-47	1	9.45669e-47	91	374				
CENPW	387103	broad.mit.edu	37	6	126661536	126661536	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126661536T>C	ENST00000368328.4	+	1	217	c.117T>C	c.(115-117)ggT>ggC	p.G39G	CENPW_ENST00000368326.1_Silent_p.G39G|CENPW_ENST00000368325.1_Silent_p.G39G			Q5EE01	CENPW_HUMAN	centromere protein W	39					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						AGAAAAGTGGTGACTTATTGG	0.517																																						ENST00000368328.4																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(115-117)ggT>ggC		centromere protein W							81.0	77.0	79.0					6																	126661536		2203	4300	6503	SO:0001819	synonymous_variant	387103					chromosome, centromeric region|nucleus	DNA binding	g.chr6:126661536T>C	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.117T>C	6.37:g.126661536T>C						CENPW_ENST00000368325.1_Silent_p.G39G|CENPW_ENST00000368326.1_Silent_p.G39G	p.G39G			Q5EE01	CENPW_HUMAN			1	217	+			39					A6NIR0|A6NJC2	Silent	SNP	ENST00000368328.4	37	c.117T>C	CCDS34529.1																																																																																				0.517	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			63	281	0	0	0	1	0	63	281				
HCN4	10021	broad.mit.edu	37	15	73616569	73616569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73616569C>T	ENST00000261917.3	-	7	2997	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	668					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGCTGTGCGCCGGCCCCGGG	0.647																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2002-2004)cgG>cgA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							51.0	43.0	46.0					15																	73616569		2197	4297	6494	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616569C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2004G>A	15.37:g.73616569C>T							p.R668R	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	7	2997	-			668					Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.2004G>A	CCDS10248.1																																																																																				0.647	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		68	243	0	0	0	1	0	68	243				
CERCAM	51148	broad.mit.edu	37	9	131198036	131198036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131198036G>A	ENST00000372838.4	+	12	2038	c.1640G>A	c.(1639-1641)aGt>aAt	p.S547N	CERCAM_ENST00000372842.1_Missense_Mutation_p.S469N	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	547					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAGTGGCTCAGTGACACGGAG	0.662																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(1405-1407)aGt>aAt		cerebral endothelial cell adhesion molecule							31.0	27.0	29.0					9																	131198036		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131198036G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1640G>A	9.37:g.131198036G>A	ENSP00000361929:p.Ser547Asn					CERCAM_ENST00000372838.4_Missense_Mutation_p.S547N	p.S469N			Q5T4B2	GT253_HUMAN			13	4550	+			547					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.1406G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	34	5.337214	0.95758	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.85013	-1.85;-1.93	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93041	0.7785	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94160	0.7413	10	0.87932	D	0	-6.5656	16.9993	0.86377	0.0:0.0:1.0:0.0	.	547	Q5T4B2	GT253_HUMAN	N	469;547;500	ENSP00000361933:S469N;ENSP00000361929:S547N	ENSP00000361929:S547N	S	+	2	0	CERCAM	130237857	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.664000	0.98607	2.340000	0.79590	0.561000	0.74099	AGT		0.662	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		25	120	0	0	0	1	0	25	120				
APOL2	23780	broad.mit.edu	37	22	36623483	36623483	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36623483G>T	ENST00000249066.6	-	6	1457	c.981C>A	c.(979-981)atC>atA	p.I327I	APOL2_ENST00000451256.2_Silent_p.I439I|APOL2_ENST00000358502.5_Silent_p.I327I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	327					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCATCTCATGGATCTTGGTGA	0.557																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(979-981)atC>atA		apolipoprotein L, 2							64.0	71.0	69.0					22																	36623483		2196	4296	6492	SO:0001819	synonymous_variant	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36623483G>T	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.981C>A	22.37:g.36623483G>T						APOL2_ENST00000358502.5_Silent_p.I327I|APOL2_ENST00000451256.2_Silent_p.I439I	p.I327I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	1457	-			327					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Silent	SNP	ENST00000249066.6	37	c.981C>A	CCDS43014.1																																																																																				0.557	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		91	436	1	0	1.13884e-41	1	1.38436e-41	91	436				
TFAP2E	339488	broad.mit.edu	37	1	36053933	36053933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36053933C>T	ENST00000373235.3	+	4	773	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCCACAGTGCCCATCCCCTC	0.597																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(565-567)Ccc>Tcc		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							76.0	63.0	68.0					1																	36053933		2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36053933C>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.565C>T	1.37:g.36053933C>T	ENSP00000362332:p.Pro189Ser						p.P189S	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			4	773	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	189						Missense_Mutation	SNP	ENST00000373235.3	37	c.565C>T	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891777	0.52014	.	.	ENSG00000116819	ENST00000373235	D	0.97575	-4.44	5.68	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.75085	2.285	0.80722	D	1	P	0.38535	0.635	B	0.35073	0.195	D	0.96075	0.9049	10	0.59425	D	0.04	-25.056	15.0334	0.71725	0.0:0.9305:0.0:0.0695	.	189	Q6VUC0	AP2E_HUMAN	S	189	ENSP00000362332:P189S	ENSP00000362332:P189S	P	+	1	0	TFAP2E	35826520	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.763000	0.68818	2.683000	0.91414	0.313000	0.20887	CCC		0.597	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		64	260	0	0	0	1	0	64	260				
CCDC110	256309	broad.mit.edu	37	4	186379534	186379534	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186379534A>T	ENST00000307588.3	-	6	2282	c.2207T>A	c.(2206-2208)aTc>aAc	p.I736N	CCDC110_ENST00000510617.1_Missense_Mutation_p.I736N|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	736						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAGTCTACTGATGCTGTTTTC	0.299																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(2206-2208)aTc>aAc		coiled-coil domain containing 110							49.0	49.0	49.0					4																	186379534		2203	4296	6499	SO:0001583	missense	256309					nucleus		g.chr4:186379534A>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2207T>A	4.37:g.186379534A>T	ENSP00000306776:p.Ile736Asn					CCDC110_ENST00000510617.1_Missense_Mutation_p.I736N|CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N	p.I736N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	2282	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	736					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.2207T>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758661	0.49468	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.31769	1.48;1.48;1.48	5.54	5.54	0.83059	.	0.108971	0.40640	N	0.001057	T	0.52645	0.1747	M	0.67953	2.075	0.30694	N	0.750976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.56263	-0.8008	10	0.36615	T	0.2	-5.7167	14.1879	0.65617	1.0:0.0:0.0:0.0	.	736;699;736	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	N	699;736;736	ENSP00000377172:I699N;ENSP00000306776:I736N;ENSP00000427246:I736N	ENSP00000306776:I736N	I	-	2	0	CCDC110	186616528	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.306000	0.59117	2.220000	0.72140	0.528000	0.53228	ATC		0.299	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		6	89	0	0	0	1	0	6	89				
LRCH1	23143	broad.mit.edu	37	13	47262061	47262061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47262061C>T	ENST00000389798.3	+	6	1094	c.897C>T	c.(895-897)tcC>tcT	p.S299S	LRCH1_ENST00000311191.6_Silent_p.S299S|LRCH1_ENST00000389797.3_Silent_p.S299S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	299										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGACTCCCTTTATCTCC	0.423																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(895-897)tcC>tcT		leucine-rich repeats and calponin homology (CH) domain containing 1							92.0	92.0	92.0					13																	47262061		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47262061C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.897C>T	13.37:g.47262061C>T						LRCH1_ENST00000389797.3_Silent_p.S299S|LRCH1_ENST00000389798.3_Silent_p.S299S	p.S299S	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	6	1126	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	299					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.897C>T	CCDS31972.1																																																																																				0.423	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		49	278	0	0	0	1	0	49	278				
ZNF641	121274	broad.mit.edu	37	12	48739206	48739206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48739206G>A	ENST00000544117.2	-	4	1078	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W|ZNF641_ENST00000448928.3_Intron			Q96N77	ZN641_HUMAN	zinc finger protein 641	124	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCCAGGCTCCGCCACTCCTCC	0.473																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(370-372)Cgg>Tgg		zinc finger protein 641							81.0	80.0	80.0					12																	48739206		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48739206G>A	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.370C>T	12.37:g.48739206G>A	ENSP00000437832:p.Arg124Trp					ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W	p.R124W			Q96N77	ZN641_HUMAN			4	1078	-			124			KRAB.		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.370C>T	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401740	0.62288	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026;ENST00000548932	T;T;T;T	0.01871	4.59;4.59;4.59;4.59	5.54	3.57	0.40892	Krueppel-associated box (4);	0.110597	0.40908	D	0.000997	T	0.08179	0.0204	L	0.61387	1.9	0.40170	D	0.977168	D	0.89917	1.0	D	0.67103	0.949	T	0.03706	-1.1011	10	0.66056	D	0.02	.	8.8763	0.35348	0.0:0.2757:0.5714:0.1529	.	124	Q96N77	ZN641_HUMAN	W	124;124;110;124	ENSP00000301042:R124W;ENSP00000437832:R124W;ENSP00000449974:R110W;ENSP00000448810:R124W	ENSP00000301042:R124W	R	-	1	2	ZNF641	47025473	0.930000	0.31532	1.000000	0.80357	0.999000	0.98932	1.077000	0.30741	1.472000	0.48140	0.655000	0.94253	CGG		0.473	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		80	350	0	0	0	1	0	80	350				
PLPPR5	163404	broad.mit.edu	37	1	99470004	99470004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99470004A>G	ENST00000263177.4	-	1	445	c.224T>C	c.(223-225)gTc>gCc	p.V75A	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'UTR|LPPR5_ENST00000370188.3_Missense_Mutation_p.V75A	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		75						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GAGCACGGGGACCCCGGCGGC	0.726																																						ENST00000370188.3																			0											c.(223-225)gTc>gCc									14.0	15.0	15.0					1																	99470004		2196	4288	6484	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99470004A>G																												ENST00000263177.4:c.224T>C	1.37:g.99470004A>G	ENSP00000263177:p.Val75Ala					LPPR5_ENST00000534652.1_5'UTR|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000263177.4_Missense_Mutation_p.V75A	p.V75A	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			1	584	-			75					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.224T>C	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447927	0.63178	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.30981	1.51;1.51	5.17	4.0	0.46444	.	0.124209	0.53938	D	0.000055	T	0.09992	0.0245	N	0.21583	0.68	0.44061	D	0.996809	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.04855	-1.0922	10	0.56958	D	0.05	.	10.9157	0.47135	0.8422:0.1578:0.0:0.0	.	75;75	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	A	75	ENSP00000359207:V75A;ENSP00000263177:V75A	ENSP00000263177:V75A	V	-	2	0	AL161744.1	99242592	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.053000	0.93860	0.750000	0.32877	0.459000	0.35465	GTC		0.726	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			10	91	0	0	0	1	0	10	91				
AFF3	3899	broad.mit.edu	37	2	100210030	100210030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210030G>A	ENST00000409236.2	-	13	2205	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	AFF3_ENST00000317233.4_Missense_Mutation_p.A698V|AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000356421.2_Missense_Mutation_p.A723V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	698					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGAGGCAGAGGCAGCCACGGT	0.617																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2092-2094)gCc>gTc		AF4/FMR2 family, member 3							53.0	59.0	57.0					2																	100210030		2203	4297	6500	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210030G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2093C>T	2.37:g.100210030G>A	ENSP00000387207:p.Ala698Val					AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000409236.1_Missense_Mutation_p.A698V|AFF3_ENST00000356421.2_Missense_Mutation_p.A723V	p.A698V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2328	-			698					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2093C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611297	0.14066	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	3.87	3.87	0.44632	.	1.118960	0.06955	N	0.815285	T	0.51075	0.1653	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30851	0.297;0.017;0.069	B;B;B	0.32342	0.144;0.026;0.025	T	0.38134	-0.9675	10	0.25106	T	0.35	.	12.7151	0.57111	0.0:0.0:1.0:0.0	.	851;698;723	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	698;723;723;698;698;851;723	ENSP00000317421:A698V;ENSP00000348793:A723V;ENSP00000386834:A723V;ENSP00000387207:A698V	ENSP00000317421:A698V	A	-	2	0	AFF3	99576462	0.219000	0.23619	0.002000	0.10522	0.221000	0.24807	3.346000	0.52190	1.672000	0.50884	0.561000	0.74099	GCC		0.617	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		157	449	0	0	0	1	0	157	449				
RNF32	140545	broad.mit.edu	37	7	156468427	156468427	+	Missense_Mutation	SNP	A	A	C	rs200222056		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468427A>C	ENST00000405335.1	+	9	1131	c.722A>C	c.(721-723)aAc>aCc	p.N241T	RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T|RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000311822.8_Missense_Mutation_p.N241T			Q9H0A6	RNF32_HUMAN	ring finger protein 32	241						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTCATACAACACCAACATT	0.517																																						ENST00000405335.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(721-723)aAc>aCc		ring finger protein 32							132.0	128.0	129.0					7																	156468427		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156468427A>C		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.722A>C	7.37:g.156468427A>C	ENSP00000385285:p.Asn241Thr					RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T|RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000311822.8_Missense_Mutation_p.N241T|RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|AC005534.9_ENST00000430825.1_RNA	p.N241T			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	9	1131	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	241					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.722A>C	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	3.878	-0.026452	0.07589	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.22743	2.3;2.3;2.3;1.94;2.3;1.97	5.23	1.57	0.23409	.	0.722210	0.14790	N	0.298282	T	0.14013	0.0339	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.001	T	0.27054	-1.0085	10	0.30854	T	0.27	-3.3078	8.2561	0.31758	0.6967:0.0:0.3033:0.0	.	241;241	G5E940;Q9H0A6	.;RNF32_HUMAN	T	241;241;241;241;241;217	ENSP00000405588:N241T;ENSP00000315950:N241T;ENSP00000385285:N241T;ENSP00000308894:N241T;ENSP00000376499:N241T;ENSP00000341185:N217T	ENSP00000308894:N241T	N	+	2	0	RNF32	156161188	0.000000	0.05858	0.052000	0.19188	0.584000	0.36387	0.021000	0.13489	0.029000	0.15352	-0.274000	0.10170	AAC		0.517	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		84	443	0	0	0	1	0	84	443				
SOWAHB	345079	broad.mit.edu	37	4	77817687	77817687	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77817687G>T	ENST00000334306.2	-	1	1315	c.1316C>A	c.(1315-1317)gCt>gAt	p.A439D		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	439																	AAGGCCCCCAGCTGGATTCCT	0.622																																						ENST00000334306.2																			0											c.(1315-1317)gCt>gAt		sosondowah ankyrin repeat domain family member B							47.0	58.0	54.0					4																	77817687		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817687G>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1316C>A	4.37:g.77817687G>T	ENSP00000334879:p.Ala439Asp						p.A439D	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1315	-			439					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1316C>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872085	0.51695	.	.	ENSG00000186212	ENST00000334306	T	0.07114	3.22	5.05	2.77	0.32553	.	0.491680	0.17923	U	0.157429	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	P	0.44877	0.845	B	0.43478	0.421	T	0.27872	-1.0061	10	0.13470	T	0.59	-4.2046	6.0404	0.19730	0.1359:0.283:0.5811:0.0	.	439	A6NEL2	ANR56_HUMAN	D	439	ENSP00000334879:A439D	ENSP00000334879:A439D	A	-	2	0	ANKRD56	78036711	0.000000	0.05858	0.032000	0.17829	0.001000	0.01503	0.033000	0.13754	0.991000	0.38814	0.655000	0.94253	GCT		0.622	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		121	524	1	0	2.21197e-46	1	2.71663e-46	121	524				
TUBGCP4	27229	broad.mit.edu	37	15	43672359	43672359	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43672359A>C	ENST00000260383.7	+	6	773	c.519A>C	c.(517-519)gaA>gaC	p.E173D	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.E173D			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	173					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGCACTGGAAAAGTAAGTCA	0.448																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(517-519)gaA>gaC		tubulin, gamma complex associated protein 4							80.0	82.0	82.0					15																	43672359		1884	4107	5991	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43672359A>C	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.519A>C	15.37:g.43672359A>C	ENSP00000260383:p.Glu173Asp					TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E173D	p.E173D	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	6	759	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	173					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.519A>C		.	.	.	.	.	.	.	.	.	.	A	23.8	4.456013	0.84209	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08370	3.1;3.1	5.72	4.59	0.56863	.	0.041945	0.85682	D	0.000000	T	0.17534	0.0421	M	0.61703	1.905	0.49687	D	0.99981	D;D	0.55385	0.971;0.964	P;P	0.53490	0.727;0.606	T	0.00626	-1.1638	10	0.45353	T	0.12	-10.5663	11.0935	0.48130	0.9276:0.0:0.0724:0.0	.	173;173	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	D	173;37	ENSP00000260383:E173D;ENSP00000382387:E37D	ENSP00000260383:E173D	E	+	3	2	TUBGCP4	41459651	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.748000	0.47483	1.101000	0.41535	0.533000	0.62120	GAA		0.448	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		32	183	0	0	0	1	0	32	183				
NAV3	89795	broad.mit.edu	37	12	78571064	78571064	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78571064A>G	ENST00000397909.2	+	27	5441	c.5268A>G	c.(5266-5268)gcA>gcG	p.A1756A	NAV3_ENST00000536525.2_Silent_p.A1756A|NAV3_ENST00000228327.6_Silent_p.A1756A|NAV3_ENST00000266692.7_Silent_p.A1579A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1756						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGGCTCAGCATCCATGAAGC	0.433										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5266-5268)gcA>gcG		neuron navigator 3							117.0	107.0	110.0					12																	78571064		1904	4137	6041	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78571064A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5268A>G	12.37:g.78571064A>G		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Silent_p.A1579A|NAV3_ENST00000228327.6_Silent_p.A1756A|NAV3_ENST00000536525.2_Silent_p.A1756A	p.A1756A			Q8IVL0	NAV3_HUMAN			27	5441	+			1756					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.5268A>G		.	.	.	.	.	.	.	.	.	.	A	0.023	-1.397454	0.01175	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.95	-4.39	0.03611	.	.	.	.	.	T	0.35364	0.0929	.	.	.	0.32552	N	0.532221	.	.	.	.	.	.	T	0.48115	-0.9063	4	.	.	.	0.4945	6.924	0.24403	0.4447:0.324:0.2312:0.0	.	.	.	.	V	651	.	.	I	+	1	0	NAV3	77095195	0.001000	0.12720	0.008000	0.14137	0.217000	0.24651	-0.203000	0.09438	-0.648000	0.05437	-1.063000	0.02288	ATC		0.433	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		105	410	0	0	0	1	0	105	410				
RP11-337C18.8	0	broad.mit.edu	37	1	146650981	146650981	+	RNA	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146650981T>A	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							CTGAATATCGTCATAGCCAAG	0.448																																						ENST00000607149.1																			0																																																			0							g.chr1:146650981T>A																													1.37:g.146650981T>A														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.448	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			55	211	0	0	0	1	0	55	211				
ARHGAP25	9938	broad.mit.edu	37	2	69043302	69043302	+	Intron	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69043302A>C	ENST00000295381.3	+	7	1223				ARHGAP25_ENST00000479844.1_5'Flank|ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000409220.1_Intron|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.N249T|ARHGAP25_ENST00000497079.1_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409202.3_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						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(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGAACAGGAATGACTGCCAA	0.373																																						ENST00000544262.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(745-747)aAt>aCt		Rho GTPase activating protein 25																																				SO:0001627	intron_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69043302A>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.805-119A>C	2.37:g.69043302A>C						ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000409220.1_Intron|ARHGAP25_ENST00000497079.1_Intron	p.N249T			P42331	RHG25_HUMAN			7	960	+			0			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.746A>C		.	.	.	.	.	.	.	.	.	.	A	7.729	0.698803	0.15106	.	.	ENSG00000163219	ENST00000544262	T	0.15139	2.45	4.41	-0.764	0.11027	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.33369	-0.9871	8	0.39692	T	0.17	.	2.861	0.05586	0.2963:0.0:0.3704:0.3332	.	249	B7Z8K7	.	T	249	ENSP00000439917:N249T	ENSP00000417283:N249T	N	+	2	0	ARHGAP25	68896806	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.889000	0.04144	-0.154000	0.11118	-0.248000	0.11899	AAT		0.373	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		19	41	0	0	0	1	0	19	41				
PC	5091	broad.mit.edu	37	11	66619997	66619997	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66619997T>C	ENST00000393958.2	-	14	1831	c.1738A>G	c.(1738-1740)Act>Gct	p.T580A	PC_ENST00000529047.1_5'Flank|PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.T580A|PC_ENST00000393955.2_Missense_Mutation_p.T580A	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	580	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCACACGAGTGGCCAGCAGT	0.617																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1738-1740)Act>Gct		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						70.0	68.0	69.0					11																	66619997		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66619997T>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1738A>G	11.37:g.66619997T>C	ENSP00000377530:p.Thr580Ala					PC_ENST00000393955.2_Missense_Mutation_p.T580A|PC_ENST00000393958.2_Missense_Mutation_p.T580A	p.T580A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	2019	-		Melanoma(852;0.0525)	580			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.1738A>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826191	0.71143	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98280	-4.84;-4.84;-4.84	5.53	5.53	0.82687	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.103647	0.64402	D	0.000003	D	0.99327	0.9764	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98662	1.0684	10	0.87932	D	0	-19.6207	13.6436	0.62267	0.0:0.0:0.0:1.0	.	580	P11498	PYC_HUMAN	A	580	ENSP00000377527:T580A;ENSP00000377530:T580A;ENSP00000377532:T580A	ENSP00000377527:T580A	T	-	1	0	PC	66376573	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.664000	0.61540	2.107000	0.64212	0.533000	0.62120	ACT		0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		99	379	0	0	0	1	0	99	379				
LAMTOR5	10542	broad.mit.edu	37	1	110946568	110946568	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110946568G>T	ENST00000602318.1	-	3	275	c.188C>A	c.(187-189)cCt>cAt	p.P63H	LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P145H|LAMTOR5_ENST00000602858.1_Missense_Mutation_p.P51H|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.P62H|LAMTOR5_ENST00000474861.2_Missense_Mutation_p.P62H			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	63					cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											ACACACCACAGGAATATCAGT	0.488																																						ENST00000474861.2																			0											c.(184-186)cCt>cAt		late endosomal/lysosomal adaptor, MAPK and MTOR activator 5							118.0	110.0	113.0					1																	110946568		2203	4300	6503	SO:0001583	missense	10542							g.chr1:110946568G>T	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"""HBx-interacting protein"", ""hepatitis B virus x-interacting protein (9.6kD)"""	608521	"""hepatitis B virus x interacting protein"""	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.188C>A	1.37:g.110946568G>T	ENSP00000473439:p.Pro63His					LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P145H|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000602318.1_Missense_Mutation_p.P63H|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.P62H|LAMTOR5_ENST00000602858.1_Missense_Mutation_p.P51H	p.P62H							3	791	-								Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37	c.185C>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.775065	0.90108	.	.	ENSG00000134248	ENST00000483260;ENST00000474861;ENST00000256644	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.62740	0.906	T	0.77264	-0.2652	8	0.87932	D	0	-19.2524	19.3531	0.94398	0.0:0.0:1.0:0.0	.	63	O43504	HBXIP_HUMAN	H	62;62;145	.	ENSP00000256644:P145H	P	-	2	0	HBXIP	110748091	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.482000	0.90439	2.941000	0.99782	0.655000	0.94253	CCT		0.488	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		105	444	1	0	3.77761e-39	1	4.56358e-39	105	444				
MUC16	94025	broad.mit.edu	37	19	9070734	9070734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9070734G>A	ENST00000397910.4	-	3	16915	c.16712C>T	c.(16711-16713)aCt>aTt	p.T5571I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5573	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCCAGGAGTAGTTGTTTG	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16711-16713)aCt>aTt		mucin 16, cell surface associated							246.0	228.0	234.0					19																	9070734		2035	4178	6213	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070734G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16712C>T	19.37:g.9070734G>A	ENSP00000381008:p.Thr5571Ile						p.T5571I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16915	-			5573			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16712C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.656	-0.512783	0.04200	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.4	-0.935	0.10423	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.42749	-0.9433	8	0.87932	D	0	.	4.1256	0.10126	0.4334:0.0:0.5666:0.0	.	5571	B5ME49	.	I	5571	ENSP00000381008:T5571I	ENSP00000381008:T5571I	T	-	2	0	MUC16	8931734	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.341000	0.07811	-0.205000	0.10219	-0.703000	0.03666	ACT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		170	774	0	0	0	1	0	170	774				
OR4K14	122740	broad.mit.edu	37	14	20483064	20483064	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20483064C>A	ENST00000305045.2	-	1	288	c.289G>T	c.(289-291)Gga>Tga	p.G97*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCATACATCCTCCAAAGGAG	0.488																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(289-291)Gga>Tga		olfactory receptor, family 4, subfamily K, member 14							105.0	98.0	100.0					14																	20483064		2203	4300	6503	SO:0001587	stop_gained	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483064C>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.289G>T	14.37:g.20483064C>A	ENSP00000305011:p.Gly97*						p.G97*	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	288	-	all_cancers(95;0.00108)		97					Q6IEU1|Q96R71	Nonsense_Mutation	SNP	ENST00000305045.2	37	c.289G>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.412246	0.83340	.	.	ENSG00000169484	ENST00000305045	.	.	.	4.04	4.04	0.47022	.	0.000000	0.43747	D	0.000522	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1214	0.72447	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000305011:G97X	G	-	1	0	OR4K14	19552904	0.007000	0.16637	1.000000	0.80357	0.915000	0.54546	2.340000	0.43974	2.086000	0.62901	0.505000	0.49811	GGA		0.488	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			43	229	1	0	6.21074e-16	1	6.80439e-16	43	229				
DDX46	9879	broad.mit.edu	37	5	134154554	134154554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154554C>T	ENST00000354283.4	+	21	2969	c.2834C>T	c.(2833-2835)gCt>gTt	p.A945V	DDX46_ENST00000452510.2_Missense_Mutation_p.A946V			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	945					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTAGACTGCTAGGTGGAAA	0.403																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2836-2838)gCt>gTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							77.0	75.0	76.0					5																	134154554		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134154554C>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2834C>T	5.37:g.134154554C>T	ENSP00000346236:p.Ala945Val					DDX46_ENST00000354283.4_Missense_Mutation_p.A945V	p.A946V	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		21	2995	+			945					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2837C>T	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858916	0.71834	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.28666	1.6;1.6	5.71	5.71	0.89125	.	0.537909	0.22272	N	0.062243	T	0.33731	0.0873	L	0.38838	1.175	0.80722	D	1	B	0.31351	0.32	B	0.37091	0.241	T	0.07214	-1.0784	10	0.48119	T	0.1	1.6371	19.8505	0.96738	0.0:1.0:0.0:0.0	.	945	Q7L014	DDX46_HUMAN	V	946;945	ENSP00000416534:A946V;ENSP00000346236:A945V	ENSP00000346236:A945V	A	+	2	0	DDX46	134182453	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.764000	0.85297	2.688000	0.91661	0.655000	0.94253	GCT		0.403	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		40	170	0	0	0	1	0	40	170				
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20405117G>A	ENST00000254351.4	-	2	379	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SDC1_ENST00000381150.1_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.S45S	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	45					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532																																						ENST00000381150.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21						c.(133-135)tcC>tcT		syndecan 1							89.0	91.0	90.0					2																	20405117		2203	4300	6503	SO:0001819	synonymous_variant	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20405117G>A	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.135C>T	2.37:g.20405117G>A						SDC1_ENST00000254351.4_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.S45S	p.S45S	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	3	525	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		45					D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	c.135C>T	CCDS1697.1																																																																																				0.532	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		71	670	0	0	0	1	0	71	670				
NINJ1	4814	broad.mit.edu	37	9	95888858	95888858	+	Silent	SNP	G	G	A	rs538594312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95888858G>A	ENST00000375446.4	-	2	208	c.138C>T	c.(136-138)agC>agT	p.S46S	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	46					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						TCTCGGCTGCGCTCTTCTTGC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		15865	0.0		0.0	False		,,,				2504	0.001					ENST00000375446.4																			0				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						c.(136-138)agC>agT		ninjurin 1							98.0	80.0	86.0					9																	95888858		2203	4300	6503	SO:0001819	synonymous_variant	4814				cell adhesion|nervous system development|tissue regeneration	integral to membrane		g.chr9:95888858G>A	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.138C>T	9.37:g.95888858G>A							p.S46S	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN			2	208	-			46					Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	ENST00000375446.4	37	c.138C>T	CCDS6703.1																																																																																				0.667	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148		10	480	0	0	0	1	0	10	480				
FAF1	11124	broad.mit.edu	37	1	51005376	51005376	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51005376G>T	ENST00000396153.2	-	14	1744	c.1293C>A	c.(1291-1293)caC>caA	p.H431Q	FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q|FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	431					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACTGCCAAAGTGTCTATTGC	0.353																																						ENST00000396153.2																			1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(1291-1293)caC>caA		Fas (TNFRSF6) associated factor 1							63.0	62.0	62.0					1																	51005376		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51005376G>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1293C>A	1.37:g.51005376G>T	ENSP00000379457:p.His431Gln					FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q	p.H431Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	14	1744	-			431					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.1293C>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332629	0.41297	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.9	-0.835	0.10775	UAS (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.47716	1.5	0.49582	D	0.999807	D;D	0.58970	0.984;0.984	P;P	0.51945	0.685;0.685	T	0.48703	-0.9012	9	0.11182	T	0.66	-33.0452	6.8217	0.23861	0.4533:0.0:0.4386:0.1081	.	189;431	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	Q	431;431;189;271;279	.	ENSP00000360843:H431Q	H	-	3	2	FAF1	50777964	1.000000	0.71417	0.982000	0.44146	0.218000	0.24690	0.848000	0.27710	-0.417000	0.07461	-0.345000	0.07892	CAC		0.353	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		7	108	1	0	1.06961e-07	1	1.11297e-07	7	108				
NELFA	7469	broad.mit.edu	37	4	1985098	1985098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1985098G>A	ENST00000411638.2	-	11	1550	c.1535C>T	c.(1534-1536)aCg>aTg	p.T512M	NELFA_ENST00000542778.1_Missense_Mutation_p.T377M|NELFA_ENST00000382882.3_Missense_Mutation_p.T523M	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	512					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCACTGGCCCGTGGCATAGTT	0.597																																						ENST00000382882.3																			0											c.(1567-1569)aCg>aTg		negative elongation factor complex member A							197.0	168.0	178.0					4																	1985098		2203	4300	6503	SO:0001583	missense	7469							g.chr4:1985098G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1535C>T	4.37:g.1985098G>A	ENSP00000399165:p.Thr512Met					NELFA_ENST00000542778.1_Missense_Mutation_p.T377M|NELFA_ENST00000411638.1_Missense_Mutation_p.T512M	p.T523M	NM_005663.4	NP_005654.3					11	2685	-								A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1568C>T		.	.	.	.	.	.	.	.	.	.	G	28.5	4.923042	0.92319	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.61627	0.15;0.09;0.2;0.17	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79978	-0.1575	10	0.87932	D	0	-18.9401	18.8462	0.92208	0.0:0.0:1.0:0.0	.	512	Q9H3P2	NELFA_HUMAN	M	523;516;377;512	ENSP00000372335:T523M;ENSP00000387647:T516M;ENSP00000445757:T377M;ENSP00000399165:T512M	ENSP00000372335:T523M	T	-	2	0	WHSC2	1954896	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.741000	0.98843	2.466000	0.83321	0.462000	0.41574	ACG		0.597	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		29	743	0	0	0	1	0	29	743				
IDH2	3418	broad.mit.edu	37	15	90631926	90631926	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631926G>T	ENST00000330062.3	-	4	540	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	IDH2_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.L13M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	143					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTCCCCCCCAGGATGTTCCGG	0.552			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(427-429)Ctg>Atg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							105.0	105.0	105.0					15																	90631926		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631926G>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.427C>A	15.37:g.90631926G>T	ENSP00000331897:p.Leu143Met					IDH2_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000539790.1_Missense_Mutation_p.L13M|IDH2_ENST00000559482.1_Intron	p.L143M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	540	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		143					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.427C>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225975	0.39300	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.85955	-2.05;-2.05;-2.05	5.67	4.56	0.56223	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.64402	D	0.000001	D	0.94571	0.8251	H	0.98276	4.19	0.44995	D	0.998017	D	0.76494	0.999	D	0.80764	0.994	D	0.94648	0.7836	10	0.87932	D	0	.	8.6475	0.34013	0.1763:0.0:0.8237:0.0	.	143	P48735	IDHP_HUMAN	M	143;13;91	ENSP00000331897:L143M;ENSP00000438457:L13M;ENSP00000446147:L91M	ENSP00000331897:L143M	L	-	1	2	IDH2	88432930	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	2.443000	0.44881	2.666000	0.90696	0.561000	0.74099	CTG		0.552	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			65	364	1	0	4.67498e-28	1	5.42913e-28	65	364				
ANAPC5	51433	broad.mit.edu	37	12	121758243	121758243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121758243G>T	ENST00000261819.3	-	12	1581	c.1460C>A	c.(1459-1461)tCt>tAt	p.S487Y	ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y|ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	487					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAACACTTCAGAAGCTGCAGC	0.418																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1459-1461)tCt>tAt		anaphase promoting complex subunit 5							83.0	75.0	78.0					12																	121758243		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121758243G>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1460C>A	12.37:g.121758243G>T	ENSP00000261819:p.Ser487Tyr					ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y	p.S487Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			12	1581	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		487					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1460C>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339557	0.41398	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.59	4.68	0.58851	Tetratricopeptide-like helical (1);	0.224732	0.47455	D	0.000226	T	0.52191	0.1719	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.16603	0.007;0.002;0.002;0.018	B;B;B;B	0.15870	0.008;0.003;0.009;0.014	T	0.46400	-0.9194	10	0.35671	T	0.21	.	15.5473	0.76112	0.0:0.1432:0.8568:0.0	.	153;89;375;487	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	Y	375;474;487;153;89;375	ENSP00000415061:S375Y;ENSP00000439875:S474Y;ENSP00000261819:S487Y;ENSP00000343787:S375Y	ENSP00000261819:S487Y	S	-	2	0	ANAPC5	120242626	1.000000	0.71417	0.703000	0.30354	0.903000	0.53119	5.670000	0.68088	1.450000	0.47717	0.655000	0.94253	TCT		0.418	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			49	225	1	0	1.81118e-26	1	2.08805e-26	49	225				
NPAT	4863	broad.mit.edu	37	11	108043568	108043568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108043568G>A	ENST00000278612.8	-	13	2248	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	715					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGACTCAGGGTGAGAATCT	0.438																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(2143-2145)Cct>Tct		nuclear protein, ataxia-telangiectasia locus							107.0	98.0	101.0					11																	108043568		1887	4119	6006	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108043568G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2143C>T	11.37:g.108043568G>A	ENSP00000278612:p.Pro715Ser						p.P715S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2248	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	715					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.2143C>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	0.996	-0.692611	0.03303	.	.	ENSG00000149308	ENST00000278612	T	0.04809	3.55	6.08	-1.87	0.07737	.	0.545184	0.20071	N	0.099871	T	0.04679	0.0127	M	0.61703	1.905	0.09310	N	1	B;B	0.18610	0.023;0.029	B;B	0.17433	0.007;0.018	T	0.32079	-0.9920	10	0.38643	T	0.18	-0.4422	3.389	0.07282	0.1734:0.2359:0.4498:0.1409	.	715;715	B9EG70;Q14207	.;NPAT_HUMAN	S	715	ENSP00000278612:P715S	ENSP00000278612:P715S	P	-	1	0	NPAT	107548778	0.001000	0.12720	0.004000	0.12327	0.033000	0.12548	-0.179000	0.09768	-0.035000	0.13691	-0.768000	0.03414	CCT		0.438	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		54	333	0	0	0	1	0	54	333				
EIF2D	1939	broad.mit.edu	37	1	206773132	206773132	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206773132C>A	ENST00000271764.2	-	9	1215	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Missense_Mutation_p.S212I	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	336					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CACCCCTTTGCTCAGCTCCTT	0.582																																						ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1006-1008)aGc>aTc		eukaryotic translation initiation factor 2D							152.0	127.0	136.0					1																	206773132		2203	4300	6503	SO:0001583	missense	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206773132C>A	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1007G>T	1.37:g.206773132C>A	ENSP00000271764:p.Ser336Ile					EIF2D_ENST00000367114.3_Missense_Mutation_p.S212I	p.S336I	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			9	1215	-			336					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	c.1007G>T	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572557	0.45798	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.47869	0.83;0.9	5.75	4.85	0.62838	.	0.206543	0.64402	D	0.000017	T	0.55097	0.1899	M	0.67397	2.05	0.46061	D	0.998846	P;P	0.45715	0.741;0.865	B;P	0.50617	0.372;0.646	T	0.58399	-0.7643	10	0.62326	D	0.03	-4.8102	9.6372	0.39817	0.0:0.8415:0.0:0.1585	.	212;336	P41214-2;P41214	.;EIF2D_HUMAN	I	212;336	ENSP00000356081:S212I;ENSP00000271764:S336I	ENSP00000271764:S336I	S	-	2	0	EIF2D	204839755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.124000	0.31320	1.437000	0.47472	0.563000	0.77884	AGC		0.582	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		102	456	1	0	1.79411e-48	1	2.21456e-48	102	456				
HSPBAP1	79663	broad.mit.edu	37	3	122459673	122459673	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459673A>C	ENST00000306103.2	-	8	1129	c.986T>G	c.(985-987)gTt>gGt	p.V329G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	329						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AAATGCAGAAACAGCTGCATT	0.388																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(985-987)gTt>gGt		HSPB (heat shock 27kDa) associated protein 1							107.0	103.0	104.0					3																	122459673		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459673A>C	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.986T>G	3.37:g.122459673A>C	ENSP00000302562:p.Val329Gly					HSPBAP1_ENST00000383659.1_3'UTR	p.V329G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1129	-			329					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.986T>G	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907393	0.72868	.	.	ENSG00000169087	ENST00000306103	T	0.41758	0.99	5.38	5.38	0.77491	Cupin, JmjC-type (1);	0.694163	0.14446	N	0.319061	T	0.54431	0.1858	M	0.65498	2.005	0.80722	D	1	D	0.54047	0.964	P	0.52267	0.694	T	0.57464	-0.7807	10	0.87932	D	0	.	13.2584	0.60091	1.0:0.0:0.0:0.0	.	329	Q96EW2	HBAP1_HUMAN	G	329	ENSP00000302562:V329G	ENSP00000302562:V329G	V	-	2	0	HSPBAP1	123942363	0.983000	0.35010	0.092000	0.20876	0.984000	0.73092	3.869000	0.56062	2.264000	0.75181	0.533000	0.62120	GTT		0.388	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		23	577	0	0	0	1	0	23	577				
ZNF556	80032	broad.mit.edu	37	19	2876127	2876127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2876127C>T	ENST00000307635.2	+	3	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_ENST00000586426.1_Missense_Mutation_p.S56F	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCTATTTCTCAGCAGGAT	0.368																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(166-168)tCt>tTt		zinc finger protein 556							136.0	149.0	145.0					19																	2876127		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2876127C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.167C>T	19.37:g.2876127C>T	ENSP00000302603:p.Ser56Phe					ZNF556_ENST00000307635.2_Missense_Mutation_p.S56F	p.S56F			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	254	+			56			KRAB.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.167C>T	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459786	0.43736	.	.	ENSG00000172000	ENST00000307635	T	0.06218	3.33	2.44	2.44	0.29823	Krueppel-associated box (3);	.	.	.	.	T	0.04952	0.0133	L	0.33137	0.985	0.09310	N	1	D	0.54964	0.969	B	0.41332	0.354	T	0.23976	-1.0173	9	0.09843	T	0.71	.	10.636	0.45565	0.0:1.0:0.0:0.0	.	56	Q9HAH1	ZN556_HUMAN	F	56	ENSP00000302603:S56F	ENSP00000302603:S56F	S	+	2	0	ZNF556	2827127	0.000000	0.05858	0.017000	0.16124	0.270000	0.26580	0.426000	0.21363	1.391000	0.46566	0.393000	0.25936	TCT		0.368	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		202	932	0	0	0	1	0	202	932				
SERPINA7	6906	broad.mit.edu	37	X	105280711	105280711	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280711C>T	ENST00000327674.4	-	1	674	c.339G>A	c.(337-339)caG>caA	p.Q113Q	SERPINA7_ENST00000372563.1_Silent_p.Q113Q|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	113					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGATCAGATGCTGGAAGCCAT	0.478																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(337-339)caG>caA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						98.0	95.0	96.0					X																	105280711		2203	4300	6503	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280711C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.339G>A	X.37:g.105280711C>T						SERPINA7_ENST00000372563.1_Silent_p.Q113Q	p.Q113Q			P05543	THBG_HUMAN			1	674	-			113					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.339G>A	CCDS14518.1																																																																																				0.478	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		129	414	0	0	0	1	0	129	414				
ATF4P4	100127952	broad.mit.edu	37	11	113660146	113660146	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113660146G>T	ENST00000393544.2	+	0	194									activating transcription factor 4 pseudogene 4																		GGACCATCAAGTACCTGCAGC	0.607																																						ENST00000393544.2																			0																																																			0							g.chr11:113660146G>T			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113660146G>T														0	194	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.607	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		40	198	1	0	1.69901e-12	1	1.82497e-12	40	198				
SUPV3L1	6832	broad.mit.edu	37	10	70946204	70946204	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70946204C>A	ENST00000359655.4	+	3	415	c.355C>A	c.(355-357)Ctc>Atc	p.L119I	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	119					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAGCTCGTCTCTTCCACCA	0.363																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(355-357)Ctc>Atc		suppressor of var1, 3-like 1 (S. cerevisiae)							146.0	145.0	146.0					10																	70946204		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70946204C>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.355C>A	10.37:g.70946204C>A	ENSP00000352678:p.Leu119Ile					SUPV3L1_ENST00000483572.1_3'UTR	p.L119I	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			3	415	+			119					A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.355C>A	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853047	0.91355	.	.	ENSG00000156502	ENST00000359655	T	0.18810	2.19	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	L	0.49513	1.565	0.80722	D	1	P	0.41475	0.751	P	0.50352	0.638	T	0.00824	-1.1551	10	0.52906	T	0.07	-13.5808	20.3151	0.98650	0.0:1.0:0.0:0.0	.	119	Q8IYB8	SUV3_HUMAN	I	119	ENSP00000352678:L119I	ENSP00000352678:L119I	L	+	1	0	SUPV3L1	70616210	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.591000	0.67536	2.809000	0.96659	0.467000	0.42956	CTC		0.363	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		75	348	1	0	1.59627e-33	1	1.8927e-33	75	348				
APLP1	333	broad.mit.edu	37	19	36363452	36363452	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36363452G>T	ENST00000221891.4	+	7	1110	c.918G>T	c.(916-918)gaG>gaT	p.E306D	APLP1_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	306					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAATCAGTGAGCACGAGGGGT	0.577																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(916-918)gaG>gaT		amyloid beta (A4) precursor-like protein 1							150.0	146.0	147.0					19																	36363452		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36363452G>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.918G>T	19.37:g.36363452G>T	ENSP00000221891:p.Glu306Asp					APLP1_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	p.E306D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1110	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		306					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.918G>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108567	0.77096	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.59638	0.25;0.25	4.89	3.84	0.44239	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.48286	D	0.000197	T	0.71829	0.3386	M	0.77486	2.375	0.44282	D	0.99714	D;D;D;D	0.89917	0.979;1.0;0.998;0.999	P;D;D;D	0.80764	0.837;0.994;0.915;0.949	T	0.73914	-0.3832	10	0.66056	D	0.02	-23.1084	7.9565	0.30047	0.1894:0.0:0.8106:0.0	.	300;267;306;306	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	D	267;306	ENSP00000441501:E267D;ENSP00000221891:E306D	ENSP00000221891:E306D	E	+	3	2	APLP1	41055292	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.027000	0.30115	2.270000	0.75569	0.462000	0.41574	GAG		0.577	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		27	714	1	0	6.32553e-13	1	6.81307e-13	27	714				
MBD5	55777	broad.mit.edu	37	2	149247325	149247325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149247325C>T	ENST00000407073.1	+	12	4422	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V	MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1142					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A1142V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCTGTCAGTGCGGTCATTCAT	0.502																																						ENST00000407073.1																			1	Substitution - Missense(1)	p.A1142V(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(3424-3426)gCg>gTg		methyl-CpG binding domain protein 5							89.0	89.0	89.0					2																	149247325		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247325C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3425C>T	2.37:g.149247325C>T	ENSP00000386049:p.Ala1142Val					MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	p.A1142V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4422	+			1142					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.3425C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656975	0.67586	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.72;0.8	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.57036	0.2026	N	0.24115	0.695	0.42409	D	0.992599	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.922	T	0.60885	-0.7174	10	0.87932	D	0	-4.5322	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1375;1142	E9PHH0;Q9P267	.;MBD5_HUMAN	V	1142;1375	ENSP00000386049:A1142V;ENSP00000384672:A1375V	ENSP00000384672:A1375V	A	+	2	0	MBD5	148963795	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	5.016000	0.64041	2.894000	0.99253	0.655000	0.94253	GCG		0.502	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			112	286	0	0	0	1	0	112	286				
EXO5	64789	broad.mit.edu	37	1	40980896	40980896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40980896C>T	ENST00000372703.1	+	2	1754	c.680C>T	c.(679-681)gCc>gTc	p.A227V	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.A227V|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.A227V			Q9H790	EXO5_HUMAN	exonuclease 5	227					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										ATCTTTGATGCCATGGTACAA	0.502																																						ENST00000372703.1																			0											c.(679-681)gCc>gTc		exonuclease 5							109.0	118.0	115.0					1																	40980896		2203	4300	6503	SO:0001583	missense	64789							g.chr1:40980896C>T	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.680C>T	1.37:g.40980896C>T	ENSP00000361788:p.Ala227Val					EXO5_ENST00000358527.2_Missense_Mutation_p.A227V|EXO5_ENST00000296380.4_Missense_Mutation_p.A227V	p.A227V							2	1754	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	c.680C>T	CCDS453.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397356	0.62177	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380;ENST00000443729;ENST00000419161	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.31	4.38	0.52667	.	0.102457	0.39759	N	0.001280	T	0.39655	0.1086	M	0.62723	1.935	0.33180	D	0.549383	P	0.34892	0.474	P	0.45377	0.478	T	0.52990	-0.8501	10	0.30078	T	0.28	-10.3926	12.0283	0.53384	0.0:0.8265:0.1735:0.0	.	227	Q9H790	EXO5_HUMAN	V	227	ENSP00000351328:A227V;ENSP00000361788:A227V;ENSP00000296380:A227V;ENSP00000409715:A227V;ENSP00000392115:A227V	ENSP00000296380:A227V	A	+	2	0	DEM1	40753483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.835000	0.48175	1.589000	0.49982	0.650000	0.86243	GCC		0.502	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		124	475	0	0	0	1	0	124	475				
MYCBP2	23077	broad.mit.edu	37	13	77671856	77671856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77671856A>G	ENST00000544440.2	-	56	9336	c.9319T>C	c.(9319-9321)Tcc>Ccc	p.S3107P	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3145P|MYCBP2_ENST00000482517.1_5'Flank					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)		TTATGCATGGACATTTCAAAA	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.(9433-9435)Tcc>Ccc		MYC binding protein 2, E3 ubiquitin protein ligase							129.0	112.0	118.0					13																	77671856		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77671856A>G	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.9319T>C	13.37:g.77671856A>G	ENSP00000444596:p.Ser3107Pro					MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3107P|MYCBP2-AS1_ENST00000593933.1_RNA	p.S3145P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	9699	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3107						Missense_Mutation	SNP	ENST00000544440.2	37	c.9433T>C		.	.	.	.	.	.	.	.	.	.	A	10.65	1.409384	0.25378	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.57	4.37	0.52481	.	0.062205	0.64402	D	0.000003	T	0.14874	0.0359	N	0.08118	0	0.43164	D	0.994955	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.06570	-1.0819	10	0.35671	T	0.21	.	7.2937	0.26380	0.7809:0.1467:0.0724:0.0	.	493;3107;3107	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	P	3107;3145;3107	ENSP00000349892:S3107P;ENSP00000384288:S3145P;ENSP00000444596:S3107P	ENSP00000349892:S3107P	S	-	1	0	MYCBP2	76569857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.173000	0.58249	0.918000	0.36919	0.533000	0.62120	TCC		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		15	520	0	0	0	1	0	15	520				
NPY	4852	broad.mit.edu	37	7	24325010	24325010	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24325010G>A	ENST00000407573.1	+	3	441	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	NPY_ENST00000242152.2_Missense_Mutation_p.A51T|NPY_ENST00000405982.1_Missense_Mutation_p.A51T			P01303	NPY_HUMAN	neuropeptide Y	51					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATACTACTCGGCGCTGCGACA	0.677																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(151-153)Gcg>Acg		neuropeptide Y							76.0	56.0	63.0					7																	24325010		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24325010G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.151G>A	7.37:g.24325010G>A	ENSP00000384364:p.Ala51Thr					NPY_ENST00000242152.2_Missense_Mutation_p.A51T|NPY_ENST00000405982.1_Missense_Mutation_p.A51T	p.A51T			P01303	NPY_HUMAN			3	441	+			51						Missense_Mutation	SNP	ENST00000407573.1	37	c.151G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062781	0.97246	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.52983	0.64;0.64;0.64	5.86	5.86	0.93980	Pancreatic hormone-like, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74575	-0.3620	9	0.72032	D	0.01	-10.8804	20.1986	0.98248	0.0:0.0:1.0:0.0	.	51	P01303	NPY_HUMAN	T	51	ENSP00000242152:A51T;ENSP00000384364:A51T;ENSP00000385282:A51T	ENSP00000242152:A51T	A	+	1	0	NPY	24291535	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.824000	0.99380	2.781000	0.95711	0.650000	0.86243	GCG		0.677	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		39	182	0	0	0	1	0	39	182				
CCDC171	203238	broad.mit.edu	37	9	15723736	15723736	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15723736A>C	ENST00000380701.3	+	13	1811	c.1483A>C	c.(1483-1485)Aat>Cat	p.N495H	CCDC171_ENST00000297641.3_Missense_Mutation_p.N495H	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	495			N -> I (in dbSNP:rs10962127).														TCACACTAAAAATATAAAGGT	0.274																																						ENST00000380701.3																			0											c.(1483-1485)Aat>Cat		coiled-coil domain containing 171							32.0	35.0	34.0					9																	15723736		2195	4265	6460	SO:0001583	missense	203238							g.chr9:15723736A>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1483A>C	9.37:g.15723736A>C	ENSP00000370077:p.Asn495His					CCDC171_ENST00000297641.3_Missense_Mutation_p.N495H	p.N495H	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			13	1811	+			495		N -> I (in dbSNP:rs10962127).			B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1483A>C	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660058	0.47572	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.47528	0.84;0.84	5.66	4.45	0.53987	.	0.820361	0.11527	N	0.555102	T	0.43942	0.1270	N	0.24115	0.695	0.80722	D	1	D;D;D	0.54964	0.969;0.969;0.969	P;P;P	0.54100	0.742;0.66;0.742	T	0.03922	-1.0992	10	0.13470	T	0.59	-4.8921	11.332	0.49482	0.865:0.0:0.0:0.135	.	503;495;495	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	H	495	ENSP00000297641:N495H;ENSP00000370077:N495H	ENSP00000297641:N495H	N	+	1	0	C9orf93	15713736	0.875000	0.30112	1.000000	0.80357	0.996000	0.88848	1.195000	0.32186	2.279000	0.76181	0.533000	0.62120	AAT		0.274	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		15	115	0	0	0	1	0	15	115				
ANKRD11	29123	broad.mit.edu	37	16	89371699	89371699	+	Silent	SNP	G	G	A	rs200889723		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89371699G>A	ENST00000301030.4	-	4	601	c.141C>T	c.(139-141)ggC>ggT	p.G47G	ANKRD11_ENST00000563291.1_Silent_p.G47G|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000378330.2_Silent_p.G47G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	47					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G47G(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTTCCCGCCATCGCCAC	0.557																																						ENST00000301030.4																			1	Substitution - coding silent(1)	p.G47G(1)	endometrium(1)	breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(139-141)ggC>ggT		ankyrin repeat domain 11							67.0	65.0	66.0					16																	89371699		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89371699G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.141C>T	16.37:g.89371699G>A						ANKRD11_ENST00000378330.2_Silent_p.G47G|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000563291.1_Silent_p.G47G	p.G47G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	4	601	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	47					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.141C>T	CCDS32513.1																																																																																				0.557	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		100	272	0	0	0	1	0	100	272				
WDR33	55339	broad.mit.edu	37	2	128471362	128471362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128471362G>A	ENST00000322313.4	-	18	3261	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1035					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTCCTCGCCCCTCAAAT	0.617																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3103-3105)Cga>Tga		WD repeat domain 33							123.0	125.0	124.0					2																	128471362		2203	4300	6503	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471362G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3103C>T	2.37:g.128471362G>A	ENSP00000325377:p.Arg1035*						p.R1035*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3261	-	Colorectal(110;0.1)		1035					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.3103C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	41	9.042449	0.99046	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	4.86	0.63082	.	0.068596	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.982	13.5976	0.62000	0.0:0.0:0.7371:0.2629	.	.	.	.	X	1035	.	ENSP00000325377:R1035X	R	-	1	2	WDR33	128187832	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.170000	0.31883	2.738000	0.93877	0.655000	0.94253	CGA		0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		215	1107	0	0	0	1	0	215	1107				
ADCY2	108	broad.mit.edu	37	5	7713003	7713003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7713003G>A	ENST00000338316.4	+	11	1702	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	538					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTCAAAATCGCACCTTAAGG	0.303																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1612-1614)cGc>cAc		adenylate cyclase 2 (brain)							128.0	124.0	125.0					5																	7713003		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7713003G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1613G>A	5.37:g.7713003G>A	ENSP00000342952:p.Arg538His					RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H	p.R538H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			11	1702	+			538					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1613G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507890	0.44558	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77489	-1.1;-1.1	5.88	5.88	0.94601	.	0.061950	0.64402	D	0.000012	T	0.76828	0.4042	M	0.64404	1.975	0.42518	D	0.992997	B;B	0.27140	0.096;0.169	B;B	0.23419	0.046;0.037	T	0.73487	-0.3967	10	0.45353	T	0.12	.	18.4219	0.90594	0.0:0.0:1.0:0.0	.	358;538	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	538;371;358	ENSP00000342952:R538H;ENSP00000444803:R358H	ENSP00000342952:R538H	R	+	2	0	ADCY2	7766003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.967000	0.56802	2.777000	0.95525	0.551000	0.68910	CGC		0.303	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		26	126	0	0	0	1	0	26	126				
MARCH9	92979	broad.mit.edu	37	12	58151910	58151910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58151910C>T	ENST00000266643.5	+	3	964	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	178					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCTCCCTGACGGTCATCGAG	0.597																																						ENST00000266643.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(1)	4						c.(532-534)aCg>aTg		membrane-associated ring finger (C3HC4) 9							91.0	78.0	82.0					12																	58151910		2203	4300	6503	SO:0001583	missense	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58151910C>T	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.533C>T	12.37:g.58151910C>T	ENSP00000266643:p.Thr178Met					MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	p.T178M	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	964	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		178					B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	37	c.533C>T	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846206	0.71603	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.60920	0.15;0.15	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.80616	2.505	0.80722	D	1	D;D	0.65815	0.99;0.995	P;P	0.54060	0.733;0.741	T	0.76966	-0.2763	10	0.87932	D	0	.	18.1173	0.89561	0.0:1.0:0.0:0.0	.	65;178	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	M	178;65	ENSP00000266643:T178M;ENSP00000446758:T65M	ENSP00000266643:T178M	T	+	2	0	MARCH9	56438177	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.929000	0.70096	2.810000	0.96702	0.655000	0.94253	ACG		0.597	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		54	257	0	0	0	1	0	54	257				
RRP8	23378	broad.mit.edu	37	11	6621780	6621780	+	Missense_Mutation	SNP	C	C	T	rs146302834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6621780C>T	ENST00000254605.6	-	6	1304	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RRP8_ENST00000534343.1_Missense_Mutation_p.R80H	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	396					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATCCTCAAAGCGGCTGCTGAC	0.498																																						ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(1186-1188)cGc>cAc		ribosomal RNA processing 8, methyltransferase, homolog (yeast)		C	HIS/ARG	0,4402		0,0,2201	39.0	40.0	40.0		1187	5.9	1.0	11	dbSNP_134	40	1,8591	1.2+/-3.3	0,1,4295	no	missense	RRP8	NM_015324.3	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	396/457	6621780	1,12993	2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6621780C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.1187G>A	11.37:g.6621780C>T	ENSP00000254605:p.Arg396His					RRP8_ENST00000534343.1_Missense_Mutation_p.R80H	p.R396H	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			6	1304	-			396					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.1187G>A	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037135	0.93630	0.0	1.16E-4	ENSG00000132275	ENST00000254605;ENST00000534343	T;T	0.60920	0.15;0.15	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75158	-0.3416	10	0.62326	D	0.03	-1.3872	18.8347	0.92157	0.0:1.0:0.0:0.0	.	396	O43159	RRP8_HUMAN	H	396;80	ENSP00000254605:R396H;ENSP00000436960:R80H	ENSP00000254605:R396H	R	-	2	0	RRP8	6578356	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.736000	0.74811	2.793000	0.96121	0.561000	0.74099	CGC		0.498	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		32	154	0	0	0	1	0	32	154				
SLC13A1	6561	broad.mit.edu	37	7	122787315	122787315	+	Missense_Mutation	SNP	C	C	T	rs201362717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122787315C>T	ENST00000194130.2	-	7	749	c.710G>A	c.(709-711)cGt>cAt	p.R237H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	237					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CGTAAGTTTACGTGTCACGTG	0.403																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(709-711)cGt>cAt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)	C	HIS/ARG	0,4406		0,0,2203	236.0	181.0	200.0		710	5.0	1.0	7		200	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC13A1	NM_022444.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	237/596	122787315	1,13005	2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122787315C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.710G>A	7.37:g.122787315C>T	ENSP00000194130:p.Arg237His					SLC13A1_ENST00000539873.1_3'UTR	p.R237H	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			7	749	-			237					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.710G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588357	0.28357	0.0	1.16E-4	ENSG00000081800	ENST00000194130	T	0.02890	4.12	5.0	5.0	0.66597	.	0.047420	0.85682	D	0.000000	T	0.03390	0.0098	L	0.33339	1.005	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.15870	0.014;0.014	T	0.53429	-0.8440	10	0.31617	T	0.26	-12.2015	15.81	0.78552	0.0:1.0:0.0:0.0	.	237;237	A4D0X1;Q9BZW2	.;S13A1_HUMAN	H	237	ENSP00000194130:R237H	ENSP00000194130:R237H	R	-	2	0	SLC13A1	122574551	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	4.920000	0.63390	2.337000	0.79520	0.563000	0.77884	CGT		0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		11	103	0	0	0	1	0	11	103				
BARHL2	343472	broad.mit.edu	37	1	91182141	91182141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91182141G>A	ENST00000370445.4	-	1	653	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	204					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGCATTTGATGTCGCTCTGGG	0.602																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(610-612)gaC>gaT		BarH-like homeobox 2							79.0	68.0	72.0					1																	91182141		2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182141G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.612C>T	1.37:g.91182141G>A							p.D204D	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	653	-		all_lung(203;0.0263)|Lung SC(238;0.128)	204					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.612C>T	CCDS730.1																																																																																				0.602	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			15	248	0	0	0	1	0	15	248				
TRAJ57	28698	broad.mit.edu	37	14	22948007	22948007	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22948007C>T	ENST00000390482.1	+	0	63				AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA|TRAJ59_ENST00000390480.2_RNA|TRAJ58_ENST00000390481.1_RNA|TRAJ56_ENST00000390483.1_RNA					T cell receptor alpha joining 57																		CAGGTCCAAACCACAGCAGTC	0.413																																						ENST00000514473.2																			0																																																			0							g.chr14:22948007C>T	M94081		14q11.2	2012-02-07			ENSG00000211834	ENSG00000211834		"""T cell receptors / TRA locus"""	12089	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170910		14.37:g.22948007C>T						AE000661.37_ENST00000556777.1_RNA								0	225	-									RNA	SNP	ENST00000390482.1	37																																																																																						0.413	TRAJ57-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410941.1	NG_001332		4	19	0	0	0	1	0	4	19				
PRRG3	79057	broad.mit.edu	37	X	150868560	150868560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150868560C>T	ENST00000370353.3	+	3	490	c.100C>T	c.(100-102)Cga>Tga	p.R34*	PRRG3_ENST00000538575.1_Nonsense_Mutation_p.R34*|PRRG3_ENST00000370354.1_Nonsense_Mutation_p.R42*			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	34	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CACCATCGAGCGAGAGTGCAT	0.562																																						ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(100-102)Cga>Tga		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							86.0	76.0	79.0					X																	150868560		2203	4300	6503	SO:0001587	stop_gained	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150868560C>T	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.100C>T	X.37:g.150868560C>T	ENSP00000359378:p.Arg34*					PRRG3_ENST00000370354.1_Nonsense_Mutation_p.R42*|PRRG3_ENST00000538575.1_Nonsense_Mutation_p.R34*	p.R34*			Q9BZD7	TMG3_HUMAN			3	490	+	Acute lymphoblastic leukemia(192;6.56e-05)		34			Gla.		A1A523|A1A575|Q8N2N6	Nonsense_Mutation	SNP	ENST00000370353.3	37	c.100C>T	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251516	0.80135	.	.	ENSG00000130032	ENST00000448726;ENST00000538575;ENST00000370354;ENST00000370353	.	.	.	4.4	1.38	0.22167	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7443	5.4357	0.16480	0.3504:0.5428:0.0:0.1068	.	.	.	.	X	34;34;42;34	.	ENSP00000359378:R34X	R	+	1	2	PRRG3	150619216	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	2.395000	0.44459	0.768000	0.33290	-0.307000	0.09154	CGA		0.562	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		9	306	0	0	0	1	0	9	306				
CIC	23152	broad.mit.edu	37	19	42797365	42797365	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42797365G>A	ENST00000575354.2	+	15	3767	c.3727G>A	c.(3727-3729)Gcc>Acc	p.A1243T	CIC_ENST00000572681.2_Missense_Mutation_p.A2150T|CIC_ENST00000160740.3_Missense_Mutation_p.A1241T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1243	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACTCCCACGGCCCGGAGCAG	0.716			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6448-6450)Gcc>Acc		capicua transcriptional repressor							9.0	10.0	10.0					19																	42797365		2161	4260	6421	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797365G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3727G>A	19.37:g.42797365G>A	ENSP00000458663:p.Ala1243Thr					CIC_ENST00000160740.3_Missense_Mutation_p.A1241T|CIC_ENST00000575354.2_Missense_Mutation_p.A1243T	p.A2150T			Q96RK0	CIC_HUMAN			16	6516	+		Prostate(69;0.00682)	1243					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.6448G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404741	0.25378	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	2.06	0.26882	.	.	.	.	.	T	0.17662	0.0424	N	0.08118	0	0.24145	N	0.995716	B	0.06786	0.001	B	0.04013	0.001	T	0.19321	-1.0309	8	0.87932	D	0	-3.0206	4.6748	0.12706	0.1533:0.2077:0.6391:0.0	.	1243	Q96RK0	CIC_HUMAN	T	1243	.	ENSP00000160740:A1243T	A	+	1	0	CIC	47489205	0.635000	0.27199	0.516000	0.27786	0.254000	0.26022	0.944000	0.29043	0.453000	0.26858	0.491000	0.48974	GCC		0.716	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	57	0	0	0	1	0	8	57				
CIAPIN1	57019	broad.mit.edu	37	16	57463101	57463101	+	Missense_Mutation	SNP	C	C	A	rs575853934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57463101C>A	ENST00000569979.1	-	6	768	c.722G>T	c.(721-723)aGc>aTc	p.S241I	CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S307I|CIAPIN1_ENST00000569370.1_3'UTR|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATGAAGATTGCTATCACTCAG	0.582																																						ENST00000394391.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(919-921)aGc>aTc		cytokine induced apoptosis inhibitor 1							74.0	74.0	74.0					16																	57463101		2019	4166	6185	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57463101C>A	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.722G>T	16.37:g.57463101C>A	ENSP00000458000:p.Ser241Ile					CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I|CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000569370.1_3'UTR|CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S241I	p.S307I	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN			9	1161	-			307						Missense_Mutation	SNP	ENST00000569979.1	37	c.920G>T		.	.	.	.	.	.	.	.	.	.	C	15.39	2.818791	0.50633	.	.	ENSG00000005194	ENST00000394391	T	0.32272	1.46	4.73	-0.119	0.13543	.	0.716513	0.14083	N	0.342575	T	0.26629	0.0651	L	0.46157	1.445	0.09310	N	1	P;B	0.37636	0.603;0.201	B;B	0.42422	0.387;0.063	T	0.17992	-1.0351	10	0.59425	D	0.04	-2.4236	4.2962	0.10902	0.0:0.3044:0.1827:0.5129	.	294;307	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	I	307	ENSP00000377914:S307I	ENSP00000377914:S307I	S	-	2	0	CIAPIN1	56020602	0.002000	0.14202	0.009000	0.14445	0.753000	0.42808	0.020000	0.13466	0.174000	0.19809	0.561000	0.74099	AGC		0.582	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		39	170	1	0	7.04047e-22	1	7.94894e-22	39	170				
C1orf210	149466	broad.mit.edu	37	1	43748499	43748499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43748499C>A	ENST00000523677.1	-	3	532	c.299G>T	c.(298-300)gGc>gTc	p.G100V	C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	100						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCCAGCTCGCCAGTCCCAGG	0.592																																						ENST00000523677.1																			0				breast(1)	1						c.(298-300)gGc>gTc		chromosome 1 open reading frame 210							89.0	73.0	79.0					1																	43748499		2203	4300	6503	SO:0001583	missense	149466					integral to membrane		g.chr1:43748499C>A	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.299G>T	1.37:g.43748499C>A	ENSP00000430918:p.Gly100Val					C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN			3	532	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	100					D3DPX2	Missense_Mutation	SNP	ENST00000523677.1	37	c.299G>T	CCDS481.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062315	0.55432	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.46063	0.88;0.88	5.67	3.39	0.38822	.	0.680689	0.14651	N	0.306584	T	0.27063	0.0663	L	0.29908	0.895	0.29499	N	0.855033	B	0.33171	0.4	B	0.31101	0.124	T	0.19811	-1.0294	10	0.52906	T	0.07	.	5.088	0.14693	0.0:0.6033:0.2052:0.1915	.	100	Q8IVY1	CA210_HUMAN	V	100	ENSP00000430918:G100V;ENSP00000429399:G100V	ENSP00000429399:G100V	G	-	2	0	C1orf210	43521086	0.086000	0.21541	0.099000	0.21106	0.823000	0.46562	1.133000	0.31430	1.344000	0.45657	0.561000	0.74099	GGC		0.592	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	NM_182517		26	318	1	0	8.58068e-18	1	9.49213e-18	26	318				
ARMC3	219681	broad.mit.edu	37	10	23287078	23287078	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287078G>A	ENST00000298032.5	+	11	1261	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Splice_Site_p.A130T|ARMC3_ENST00000409049.3_Splice_Site_p.A393T|ARMC3_ENST00000409983.3_Splice_Site_p.A393T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	393						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTACTCAGCGCTGCTGCTGA	0.378																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e11-1		armadillo repeat containing 3							53.0	46.0	48.0					10																	23287078		2203	4300	6503	SO:0001630	splice_region_variant	219681						binding	g.chr10:23287078G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1176-1G>A	10.37:g.23287078G>A						ARMC3_ENST00000376528.4_Splice_Site_p.A130_splice|ARMC3_ENST00000409049.3_Splice_Site_p.A393_splice|ARMC3_ENST00000409983.3_Splice_Site_p.A393_splice	p.A393_splice	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			11	1261	+			393					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Splice_Site	SNP	ENST00000298032.5	37	c.1175_splice	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208318	0.95033	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.206506	0.50627	N	0.000119	D	0.85182	0.5638	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.78314	0.617;0.991	D	0.84323	0.0517	10	0.40728	T	0.16	-15.2023	19.5272	0.95212	0.0:0.0:1.0:0.0	.	393;393	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	393;393;329;393;130	ENSP00000298032:A393T;ENSP00000386943:A393T;ENSP00000387288:A393T;ENSP00000365711:A130T	ENSP00000298032:A393T	A	+	1	0	ARMC3	23327084	0.999000	0.42202	0.370000	0.25965	0.981000	0.71138	3.217000	0.51184	2.612000	0.88384	0.563000	0.77884	GCT		0.378	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	Missense_Mutation	24	111	0	0	0	1	0	24	111				
CCDC186	55088	broad.mit.edu	37	10	115884935	115884935	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115884935C>T	ENST00000369287.3	-	16	2930	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	C10orf118_ENST00000543782.1_3'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		888										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTAGTTCATGCTGGTGTTTAA	0.383																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(2662-2664)caG>caA		chromosome 10 open reading frame 118							239.0	203.0	215.0					10																	115884935		2202	4299	6501	SO:0001819	synonymous_variant	55088							g.chr10:115884935C>T																												ENST00000369287.3:c.2664G>A	10.37:g.115884935C>T						C10orf118_ENST00000543782.1_3'UTR	p.Q888Q	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	16	2930	-		Colorectal(252;0.172)|Breast(234;0.188)	888					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	37	c.2664G>A	CCDS7587.1																																																																																				0.383	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			9	188	0	0	0	1	0	9	188				
DHH	50846	broad.mit.edu	37	12	49488219	49488219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49488219C>T	ENST00000266991.2	-	1	383	c.77G>A	c.(76-78)gGc>gAc	p.G26D	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	26					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						cggcccccggcccggcccgcA	0.682																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(76-78)gGc>gAc		desert hedgehog							5.0	7.0	6.0					12																	49488219		1962	3844	5806	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49488219C>T	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.77G>A	12.37:g.49488219C>T	ENSP00000266991:p.Gly26Asp						p.G26D	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			1	383	-			26					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.77G>A	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859706	0.91433	.	.	ENSG00000139549	ENST00000266991	D	0.99727	-6.55	5.15	5.15	0.70609	Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97099	0.9796	10	0.87932	D	0	.	17.4475	0.87583	0.0:1.0:0.0:0.0	.	26	O43323	DHH_HUMAN	D	26	ENSP00000266991:G26D	ENSP00000266991:G26D	G	-	2	0	DHH	47774486	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.547000	0.67249	2.422000	0.82143	0.456000	0.33151	GGC		0.682	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		21	109	0	0	0	1	0	21	109				
ESPL1	9700	broad.mit.edu	37	12	53675330	53675330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53675330G>A	ENST00000257934.4	+	13	2630	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	847					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGCATCTCGATCAGACTAC	0.478																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(2539-2541)Gat>Aat		extra spindle pole bodies homolog 1 (S. cerevisiae)							186.0	155.0	165.0					12																	53675330		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53675330G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2539G>A	12.37:g.53675330G>A	ENSP00000257934:p.Asp847Asn					ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	p.D847N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			13	2630	+			847						Missense_Mutation	SNP	ENST00000257934.4	37	c.2539G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803375	0.31869	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13196	2.61;2.61	5.1	1.28	0.21552	.	0.656930	0.16737	N	0.201619	T	0.23727	0.0574	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.997;0.983	P;P	0.54431	0.752;0.57	T	0.06267	-1.0836	10	0.54805	T	0.06	.	7.4098	0.27011	0.346:0.0:0.654:0.0	.	58;847	B4DRU1;Q14674	.;ESPL1_HUMAN	N	847;522;847	ENSP00000257934:D847N;ENSP00000449831:D847N	ENSP00000257934:D847N	D	+	1	0	ESPL1	51961597	0.070000	0.21116	0.000000	0.03702	0.117000	0.20001	0.925000	0.28791	0.138000	0.18790	-0.224000	0.12420	GAT		0.478	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		111	499	0	0	0	1	0	111	499				
TEKT4	150483	broad.mit.edu	37	2	95537712	95537712	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537712C>A	ENST00000295201.4	+	1	525	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	130					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGAGCGCGCCCTGGACGCCAC	0.657																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(388-390)Ctg>Atg		tektin 4							17.0	15.0	16.0					2																	95537712		2190	4283	6473	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537712C>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.388C>A	2.37:g.95537712C>A	ENSP00000295201:p.Leu130Met					AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M	p.L130M	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	525	+			130						Missense_Mutation	SNP	ENST00000295201.4	37	c.388C>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.077103	0.36662	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.04406	3.63;3.63	1.84	1.84	0.25277	.	0.000000	0.64402	D	0.000002	T	0.17577	0.0422	M	0.85462	2.755	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.00638	-1.1632	10	0.56958	D	0.05	-0.3095	4.3788	0.11284	0.0:0.7866:0.0:0.2134	.	130	Q8WW24	TEKT4_HUMAN	M	130	ENSP00000295201:L130M;ENSP00000407596:L130M	ENSP00000295201:L130M	L	+	1	2	TEKT4	94901439	0.968000	0.33430	0.996000	0.52242	0.156000	0.22039	1.976000	0.40579	1.015000	0.39444	0.456000	0.33151	CTG		0.657	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		16	70	1	0	1.15088e-07	1	1.19614e-07	16	70				
HK3	3101	broad.mit.edu	37	5	176318184	176318184	+	Missense_Mutation	SNP	C	C	A	rs373833147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176318184C>A	ENST00000292432.5	-	4	359	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	90	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACGAAGTCTCCTTGCTCT	0.592																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(268-270)Gac>Tac		hexokinase 3 (white cell)							42.0	45.0	44.0					5																	176318184		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176318184C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.268G>T	5.37:g.176318184C>A	ENSP00000292432:p.Asp90Tyr						p.D90Y	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	359	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	90			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.268G>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998600	0.19121	.	.	ENSG00000160883	ENST00000292432	D	0.98617	-5.03	4.96	3.14	0.36123	Hexokinase, N-terminal (1);	0.207799	0.34046	N	0.004301	D	0.98661	0.9551	M	0.71206	2.165	0.36971	D	0.893828	D	0.89917	1.0	D	0.91635	0.999	D	0.99928	1.1298	10	0.87932	D	0	-27.9387	9.3444	0.38100	0.0:0.7609:0.0:0.2391	.	90	P52790	HXK3_HUMAN	Y	90	ENSP00000292432:D90Y	ENSP00000292432:D90Y	D	-	1	0	HK3	176250790	0.787000	0.28750	0.662000	0.29724	0.329000	0.28539	1.205000	0.32308	1.222000	0.43521	0.561000	0.74099	GAC		0.592	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			106	281	1	0	1.70349e-48	1	2.10302e-48	106	281				
DLC1	10395	broad.mit.edu	37	8	12957094	12957094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957094G>A	ENST00000276297.4	-	9	3161	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	DLC1_ENST00000520226.1_Missense_Mutation_p.R407W|DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000512044.2_Missense_Mutation_p.R515W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	918					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGACTATCCGCTGCATCCCC	0.562																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2752-2754)Cgg>Tgg		deleted in liver cancer 1							85.0	76.0	79.0					8																	12957094		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957094G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2752C>T	8.37:g.12957094G>A	ENSP00000276297:p.Arg918Trp					DLC1_ENST00000512044.2_Missense_Mutation_p.R515W|DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000520226.1_Missense_Mutation_p.R407W	p.R918W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3161	-			918					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2752C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751750	0.69533	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06849	3.48;3.25;3.25;3.26	5.43	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;P;P	0.64687	0.928;0.834;0.903	T	0.00507	-1.1699	10	0.87932	D	0	.	12.3702	0.55250	0.0:0.0:0.4075:0.5925	.	918;515;481	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	W	918;481;515;407	ENSP00000276297:R918W;ENSP00000351797:R481W;ENSP00000422595:R515W;ENSP00000428028:R407W	ENSP00000276297:R918W	R	-	1	2	DLC1	13001465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.539000	0.53604	0.584000	0.29591	0.655000	0.94253	CGG		0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		22	252	0	0	0	1	0	22	252				
GFI1B	8328	broad.mit.edu	37	9	135866287	135866287	+	Silent	SNP	C	C	T	rs190810570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135866287C>T	ENST00000339463.3	+	11	1662	c.843C>T	c.(841-843)tgC>tgT	p.C281C	GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000372124.1_Silent_p.C235C|GFI1B_ENST00000372123.1_Silent_p.C235C|GFI1B_ENST00000372122.1_Silent_p.C281C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	281	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCCAGGTGTGCGGAAAGGCCT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0					ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(841-843)tgC>tgT		growth factor independent 1B transcription repressor							85.0	72.0	76.0					9																	135866287		2203	4300	6503	SO:0001819	synonymous_variant	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866287C>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.843C>T	9.37:g.135866287C>T						GFI1B_ENST00000372123.1_Silent_p.C235C|GFI1B_ENST00000372122.1_Silent_p.C281C|GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000372124.1_Silent_p.C235C	p.C281C			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	11	1662	+			281			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	37	c.843C>T	CCDS6957.1																																																																																				0.647	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		6	295	0	0	0	1	0	6	295				
FANCM	57697	broad.mit.edu	37	14	45645252	45645252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45645252C>T	ENST00000267430.5	+	14	3380	c.3295C>T	c.(3295-3297)Cgt>Tgt	p.R1099C	FANCM_ENST00000542564.2_Missense_Mutation_p.R1073C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1099					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACCTAACAATCGTGTTCAAAT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(3295-3297)Cgt>Tgt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							51.0	52.0	52.0					14																	45645252		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645252C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3295C>T	14.37:g.45645252C>T	ENSP00000267430:p.Arg1099Cys					FANCM_ENST00000542564.2_Missense_Mutation_p.R1073C	p.R1099C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	3380	+			1099					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.3295C>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.096|2.096	-0.407123|-0.407123	0.04832|0.04832	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.17854|.	2.84;2.84;2.25|.	5.41|5.41	3.54|3.54	0.40534|0.40534	.|.	1.403590|.	0.03757|.	N|.	0.257590|.	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.26224|0.26224	-1.0109|-1.0109	10|5	0.34782|.	T|.	0.22|.	.|.	4.183|4.183	0.10385|0.10385	0.1626:0.5915:0.1576:0.0882|0.1626:0.5915:0.1576:0.0882	.|.	1073;1099|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	C|L	1099;1073;615|31	ENSP00000267430:R1099C;ENSP00000442493:R1073C;ENSP00000452033:R615C|.	ENSP00000267430:R1099C|.	R|S	+|+	1|2	0|0	FANCM|FANCM	44715002|44715002	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.025000|0.025000	0.11179|0.11179	-0.008000|-0.008000	0.12788|0.12788	0.715000|0.715000	0.32103|0.32103	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		65	294	0	0	0	1	0	65	294				
BRCA2	675	broad.mit.edu	37	13	32912529	32912529	+	Missense_Mutation	SNP	C	C	A	rs276174841|rs80359421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32912529C>A	ENST00000380152.3	+	11	4270	c.4037C>A	c.(4036-4038)aCt>aAt	p.T1346N	BRCA2_ENST00000544455.1_Missense_Mutation_p.T1346N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1346	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAATGATACTGTTTGTATT	0.328			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CD993687	BRCA2	D	rs80359421	c.(4036-4038)aCt>aAt	Homologous recombination	breast cancer 2, early onset							46.0	47.0	47.0					13																	32912529		2202	4299	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912529C>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4037C>A	13.37:g.32912529C>A	ENSP00000369497:p.Thr1346Asn	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.T1346N	p.T1346N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4264	+		Lung SC(185;0.0262)	1346					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4037C>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	5.915	0.352859	0.11182	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00776	5.71;5.71	4.89	0.778	0.18543	.	0.716618	0.13593	N	0.376425	T	0.01765	0.0056	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.53912	0.737	T	0.47459	-0.9116	10	0.48119	T	0.1	.	2.8585	0.05579	0.3635:0.2964:0.256:0.0841	.	1346	P51587	BRCA2_HUMAN	N	1346	ENSP00000369497:T1346N;ENSP00000439902:T1346N	ENSP00000369497:T1346N	T	+	2	0	BRCA2	31810529	0.000000	0.05858	0.003000	0.11579	0.137000	0.21094	-0.224000	0.09164	0.307000	0.22880	-0.262000	0.10625	ACT		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		46	167	1	0	1.47857e-17	1	1.63348e-17	46	167				
DLG4	1742	broad.mit.edu	37	17	7106591	7106591	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7106591C>A	ENST00000399506.2	-	7	754	c.563G>T	c.(562-564)aGc>aTc	p.S188I	DLG4_ENST00000302955.6_Missense_Mutation_p.S185I|DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000399510.2_Missense_Mutation_p.S231I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	188	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TACATAGATGCTATTATCTCC	0.577																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(691-693)aGc>aTc		discs, large homolog 4 (Drosophila)							103.0	97.0	99.0					17																	7106591		2031	4204	6235	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7106591C>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.563G>T	17.37:g.7106591C>A	ENSP00000382425:p.Ser188Ile					DLG4_ENST00000399506.2_Missense_Mutation_p.S188I|DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000302955.6_Missense_Mutation_p.S185I	p.S231I	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			9	1544	-			188			PDZ 2.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.692G>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.360385	0.82353	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.51924	0.1703	L	0.56340	1.77	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.986;0.97;0.988;0.961;0.999	D;D;D;D;D	0.83275	0.989;0.961;0.944;0.945;0.996	T	0.53308	-0.8457	9	0.87932	D	0	.	16.3121	0.82883	0.0:1.0:0.0:0.0	.	228;188;185;185;231	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	I	188;185;231;231;128;231;221;218	ENSP00000382425:S188I;ENSP00000307471:S185I;ENSP00000382428:S231I;ENSP00000388122:S218I	ENSP00000293813:S231I	S	-	2	0	DLG4	7047315	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.484000	0.81180	2.447000	0.82792	0.557000	0.71058	AGC		0.577	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		27	148	1	0	4.59853e-10	1	4.86106e-10	27	148				
SYPL1	6856	broad.mit.edu	37	7	105739626	105739626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105739626C>A	ENST00000011473.2	-	3	272	c.226G>T	c.(226-228)Gct>Tct	p.A76S	SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S|SYPL1_ENST00000455385.2_Missense_Mutation_p.A58S	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	76	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CCAAAAGTAGCTGTAACAGTT	0.348																																						ENST00000455385.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						c.(172-174)Gct>Tct		synaptophysin-like 1							100.0	103.0	102.0					7																	105739626		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105739626C>A		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.226G>T	7.37:g.105739626C>A	ENSP00000011473:p.Ala76Ser					SYPL1_ENST00000011473.2_Missense_Mutation_p.A76S|SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S	p.A58S	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN			2	294	-			76			MARVEL.		A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	37	c.172G>T	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196287	0.78902	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.33438	1.43;1.41;1.45	5.08	5.08	0.68730	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.84326	2.69	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.64550	-0.6381	10	0.72032	D	0.01	-1.3006	17.6082	0.88045	0.0:1.0:0.0:0.0	.	76	Q16563	SYPL1_HUMAN	S	58;76;58	ENSP00000388336:A58S;ENSP00000011473:A76S;ENSP00000419070:A58S	ENSP00000011473:A76S	A	-	1	0	SYPL1	105526862	1.000000	0.71417	0.995000	0.50966	0.597000	0.36814	4.100000	0.57762	2.525000	0.85131	0.557000	0.71058	GCT		0.348	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			13	487	1	0	7.93312e-07	1	8.20014e-07	13	487				
CRISPLD1	83690	broad.mit.edu	37	8	75898234	75898234	+	Silent	SNP	C	C	T	rs182949422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75898234C>T	ENST00000262207.4	+	2	480	c.12C>T	c.(10-12)acC>acT	p.T4T	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	4					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAAGTGTACCGCGCGGGAGT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17097	0.001		0.0	False		,,,				2504	0.0					ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(10-12)acC>acT		cysteine-rich secretory protein LCCL domain containing 1							146.0	158.0	154.0					8																	75898234		2203	4300	6503	SO:0001819	synonymous_variant	83690					extracellular region		g.chr8:75898234C>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.12C>T	8.37:g.75898234C>T						CRISPLD1_ENST00000519798.1_3'UTR	p.T4T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		2	480	+	Breast(64;0.0799)		4					B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	c.12C>T	CCDS6219.1																																																																																				0.463	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		189	869	0	0	0	1	0	189	869				
MLLT1	4298	broad.mit.edu	37	19	6270647	6270647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6270647G>A	ENST00000252674.7	-	2	299	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	46	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TCCACGAAGTGCTGGATGTCA	0.637			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(136-138)Cac>Tac		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							114.0	90.0	98.0					19																	6270647		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6270647G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.136C>T	19.37:g.6270647G>A	ENSP00000252674:p.His46Tyr		OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.H46Y	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			2	299	-			46			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.136C>T	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889490	0.91889	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	N	0.05510	-0.035	0.80722	D	1	B	0.22541	0.071	B	0.37304	0.246	T	0.49835	-0.8897	9	0.49607	T	0.09	-34.6303	16.6911	0.85322	0.0:0.0:1.0:0.0	.	46	Q03111	ENL_HUMAN	Y	46	.	ENSP00000252674:H46Y	H	-	1	0	MLLT1	6221647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.537000	0.85549	0.561000	0.74099	CAC		0.637	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		45	233	0	0	0	1	0	45	233				
MSRB3	253827	broad.mit.edu	37	12	65856975	65856975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65856975G>A	ENST00000355192.3	+	6	578	c.452G>A	c.(451-453)cGt>cAt	p.R151H	MSRB3_ENST00000308259.5_Missense_Mutation_p.R144H|MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	151					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGGGCCTCGTCCAACTGGG	0.522																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(430-432)cGt>cAt		methionine sulfoxide reductase B3							165.0	149.0	154.0					12																	65856975		2203	4300	6503	SO:0001583	missense	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65856975G>A	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.452G>A	12.37:g.65856975G>A	ENSP00000347324:p.Arg151His					MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H|MSRB3_ENST00000355192.3_Missense_Mutation_p.R151H	p.R144H	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	7	705	+			151					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.431G>A	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370903	0.95923	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.222920	0.44285	D	0.000472	D	0.86159	0.5866	M	0.62088	1.915	0.54753	D	0.999985	D;D	0.64830	0.994;0.975	D;P	0.63283	0.913;0.766	D	0.84050	0.0369	9	.	.	.	-6.5414	20.3325	0.98724	0.0:0.0:1.0:0.0	.	151;144	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	H	151;144;144;144	ENSP00000347324:R151H;ENSP00000312274:R144H;ENSP00000441650:R144H;ENSP00000445843:R144H	.	R	+	2	0	MSRB3	64143242	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.573000	0.67417	2.890000	0.99128	0.655000	0.94253	CGT		0.522	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		125	578	0	0	0	1	0	125	578				
FSTL3	10272	broad.mit.edu	37	19	681539	681539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:681539C>T	ENST00000166139.4	+	4	744	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	238	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGGCGTGCGCCACGCGGG	0.697			T	CCND1	B-CLL																																	ENST00000166139.4				Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0											c.(712-714)Cgc>Tgc		follistatin-like 3 (secreted glycoprotein)							26.0	23.0	24.0					19																	681539		2200	4296	6496	SO:0001583	missense	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:681539C>T	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.712C>T	19.37:g.681539C>T	ENSP00000166139:p.Arg238Cys					FSTL3_ENST00000592947.1_3'UTR	p.R238C	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	744	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	238			Kazal-like 2.		A8K7E3	Missense_Mutation	SNP	ENST00000166139.4	37	c.712C>T	CCDS12040.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432881	0.62844	.	.	ENSG00000070404	ENST00000166139	T	0.04119	3.7	3.88	3.88	0.44766	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.188903	0.47093	D	0.000242	T	0.20861	0.0502	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01378	-1.1370	10	0.62326	D	0.03	-31.728	14.5679	0.68191	0.0:1.0:0.0:0.0	.	238	O95633	FSTL3_HUMAN	C	238	ENSP00000166139:R238C	ENSP00000166139:R238C	R	+	1	0	FSTL3	632539	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	5.358000	0.66064	2.011000	0.59026	0.462000	0.41574	CGC		0.697	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	NM_005860		22	101	0	0	0	1	0	22	101				
COL5A1	1289	broad.mit.edu	37	9	137623411	137623411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137623411C>A	ENST00000371817.3	+	8	1648	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	412	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATCCGGAACCTTGACGAGAA	0.622																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1234-1236)Ctt>Att		collagen, type V, alpha 1							140.0	111.0	121.0					9																	137623411		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623411C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1234C>A	9.37:g.137623411C>A	ENSP00000360882:p.Leu412Ile						p.L412I	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	8	1648	+		Myeloproliferative disorder(178;0.0341)	412			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1234C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	4.938	0.174191	0.09391	.	.	ENSG00000130635	ENST00000371817	D	0.89552	-2.53	4.16	2.19	0.27852	.	0.936132	0.08761	U	0.897691	T	0.79082	0.4386	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.61520	-0.7046	10	0.22109	T	0.4	.	5.1304	0.14907	0.0:0.4548:0.4015:0.1437	.	412	P20908	CO5A1_HUMAN	I	412	ENSP00000360882:L412I	ENSP00000360882:L412I	L	+	1	0	COL5A1	136763232	0.239000	0.23836	0.097000	0.21041	0.137000	0.21094	0.610000	0.24253	0.188000	0.20168	0.313000	0.20887	CTT		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		13	425	1	0	0.000308642	1	0.000312942	13	425				
C9orf172	389813	broad.mit.edu	37	9	139740881	139740881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139740881G>A	ENST00000436881.1	+	1	2015	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	672										endometrium(2)|large_intestine(1)|lung(6)	9						CGCTGCCGGCGCACCGAGACC	0.701																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2014-2016)cGc>cAc		chromosome 9 open reading frame 172							20.0	25.0	23.0					9																	139740881		2048	4145	6193	SO:0001583	missense	389813							g.chr9:139740881G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2015G>A	9.37:g.139740881G>A	ENSP00000412388:p.Arg672His						p.R672H	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2015	+			672						Missense_Mutation	SNP	ENST00000436881.1	37	c.2015G>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883763	0.33255	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	T	0.52837	0.1759	M	0.66939	2.045	0.51012	D	0.9999	B	0.32939	0.391	B	0.23419	0.046	T	0.62469	-0.6848	8	0.72032	D	0.01	-10.9499	13.5	0.61449	0.0:0.0:1.0:0.0	.	672	C9J069	CI172_HUMAN	H	672	.	ENSP00000412388:R672H	R	+	2	0	C9orf172	138860702	1.000000	0.71417	0.988000	0.46212	0.614000	0.37383	4.587000	0.60991	1.600000	0.50102	0.164000	0.16699	CGC		0.701	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		45	161	0	0	0	1	0	45	161				
CSPG4	1464	broad.mit.edu	37	15	75980453	75980453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980453G>A	ENST00000308508.5	-	3	3045	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	985	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCAACAAATGGGATATCATCT	0.577																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2953-2955)Cca>Tca		chondroitin sulfate proteoglycan 4							83.0	87.0	86.0					15																	75980453		2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980453G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2953C>T	15.37:g.75980453G>A	ENSP00000312506:p.Pro985Ser						p.P985S	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3045	-			985			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2953C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.488732	0.26686	.	.	ENSG00000173546	ENST00000308508	T	0.25579	1.79	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	T	0.33235	0.0856	L	0.60455	1.87	0.39408	D	0.966695	D	0.53151	0.958	P	0.47705	0.555	T	0.11616	-1.0580	10	0.21014	T	0.42	.	17.0533	0.86525	0.0:0.0:1.0:0.0	.	985	Q6UVK1	CSPG4_HUMAN	S	985	ENSP00000312506:P985S	ENSP00000312506:P985S	P	-	1	0	CSPG4	73767508	1.000000	0.71417	0.573000	0.28510	0.881000	0.50899	4.089000	0.57685	2.253000	0.74438	0.555000	0.69702	CCA		0.577	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		31	639	0	0	0	1	0	31	639				
GPR137B	7107	broad.mit.edu	37	1	236347193	236347193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236347193C>A	ENST00000366592.3	+	5	1044	c.953C>A	c.(952-954)cCt>cAt	p.P318H	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	318						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GTTAGAAATCCTACAAAGGAC	0.363																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(952-954)cCt>cAt		G protein-coupled receptor 137B							117.0	114.0	115.0					1																	236347193		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236347193C>A	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.953C>A	1.37:g.236347193C>A	ENSP00000355551:p.Pro318His					GPR137B_ENST00000477559.1_3'UTR	p.P318H	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		5	1044	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	318					Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.953C>A	CCDS1609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748292|3.748292	0.69533|0.69533	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000454895|ENST00000366592;ENST00000391852;ENST00000419162	.|T;T	.|0.54866	.|0.55;0.7	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.110179	.|0.64402	.|D	.|0.000006	T|T	0.72028|0.72028	0.3410|0.3410	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.975;0.996	.|P;P	.|0.60345	.|0.81;0.873	T|T	0.75844|0.75844	-0.3174|-0.3174	5|10	.|0.87932	.|D	.|0	-3.3371|-3.3371	19.3356|19.3356	0.94316|0.94316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;318	.|Q5TAF1;O60478	.|.;G137B_HUMAN	I|H	182|318;317;100	.|ENSP00000355551:P318H;ENSP00000401841:P100H	.|ENSP00000355551:P318H	L|P	+|+	1|2	2|0	GPR137B|GPR137B	234413816|234413816	0.999000|0.999000	0.42202|0.42202	0.016000|0.016000	0.15963|0.15963	0.723000|0.723000	0.41478|0.41478	7.345000|7.345000	0.79337|0.79337	2.578000|2.578000	0.87016|0.87016	0.650000|0.650000	0.86243|0.86243	CTA|CCT		0.363	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		22	277	1	0	1.9806e-07	1	2.05782e-07	22	277				
REG1A	5967	broad.mit.edu	37	2	79350005	79350005	+	Silent	SNP	C	C	A	rs373247851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79350005C>A	ENST00000233735.1	+	5	463	c.360C>A	c.(358-360)tcC>tcA	p.S120S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	120	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCTGGTCTCCTACAAGTCCT	0.567																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(358-360)tcC>tcA		regenerating islet-derived 1 alpha							121.0	117.0	118.0					2																	79350005		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350005C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.360C>A	2.37:g.79350005C>A							p.S120S	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			5	463	+			120			C-type lectin.		P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.360C>A	CCDS1964.1																																																																																				0.567	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		106	631	1	0	5.97022e-63	1	7.52953e-63	106	631				
SLC24A5	283652	broad.mit.edu	37	15	48426538	48426538	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48426538G>A	ENST00000341459.3	+	3	458	c.385G>A	c.(385-387)Ggt>Agt	p.G129S	SLC24A5_ENST00000449382.2_Splice_Site_p.G69S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	129					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGCTTTCCTAGGTAAATATTG	0.388																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.e3+1		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							209.0	197.0	201.0					15																	48426538		2198	4297	6495	SO:0001630	splice_region_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48426538G>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.385+1G>A	15.37:g.48426538G>A						SLC24A5_ENST00000449382.2_Splice_Site_p.G69_splice	p.G129_splice	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	3	458	+		all_lung(180;0.00217)	129					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Splice_Site	SNP	ENST00000341459.3	37	c.385_splice	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424352	0.96111	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.61040	0.14;0.14	5.65	5.65	0.86999	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68337	-0.5435	10	0.40728	T	0.16	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	69;129	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	S	129;69	ENSP00000341550:G129S;ENSP00000389966:G69S	ENSP00000341550:G129S	G	+	1	0	SLC24A5	46213830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.262000	0.95591	2.941000	0.99782	0.655000	0.94253	GGT		0.388	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	Missense_Mutation	74	384	0	0	0	1	0	74	384				
ZSWIM8	23053	broad.mit.edu	37	10	75561174	75561174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75561174G>A	ENST00000605216.1	+	26	5628	c.5411G>A	c.(5410-5412)gGc>gAc	p.G1804D	RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.G1801D|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1763D|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1622D|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1809D|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1804							zinc ion binding (GO:0008270)										ACGCCCATGGGCATGATGCAG	0.587																																						ENST00000604729.1																			0											c.(5401-5403)gGc>gAc		zinc finger, SWIM-type containing 8							78.0	83.0	82.0					10																	75561174		2171	4270	6441	SO:0001583	missense	23053							g.chr10:75561174G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5411G>A	10.37:g.75561174G>A	ENSP00000474748:p.Gly1804Asp					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1622D|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1763D|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1804D|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1809D	p.G1801D							26	5699	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.5402G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.428584|4.428584	0.83667|0.83667	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000398706	.|D	.|0.86297	.|-2.1	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|.	.|.	.|.	.|.	D|D	0.94404|0.94404	0.8200|0.8200	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	D|D	0.94218|0.94218	0.7465|0.7465	4|8	.|0.87932	.|D	.|0	-0.3688|-0.3688	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1804;1808;1796;1809	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	T|D	1079|1809	.|ENSP00000381693:G1809D	.|ENSP00000381693:G1809D	A|G	+|+	1|2	0|0	KIAA0913|KIAA0913	75231180|75231180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.824000|9.824000	0.99380|0.99380	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.587	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		49	205	0	0	0	1	0	49	205				
VPS13D	55187	broad.mit.edu	37	1	12416088	12416088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12416088G>A	ENST00000358136.3	+	48	9942	c.9812G>A	c.(9811-9813)cGa>cAa	p.R3271Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTGTGTGTCGAGCAGAAGGA	0.468																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9811-9813)cGa>cAa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							127.0	115.0	119.0					1																	12416088		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12416088G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9812G>A	1.37:g.12416088G>A	ENSP00000350854:p.Arg3271Gln					VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	p.R3271Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	48	9942	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3270						Missense_Mutation	SNP	ENST00000358136.3	37	c.9812G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.150367|5.150367	0.94645|0.94645	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53857	.|0.6;0.6	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53174|0.53174	0.1780|0.1780	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.993	.|P;P	.|0.49887	.|0.625;0.526	T|T	0.37820|0.37820	-0.9689|-0.9689	5|10	.|0.17369	.|T	.|0.5	.|.	20.2617|20.2617	0.98447|0.98447	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3246;3270	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	K|Q	2093|3246;3271	.|ENSP00000348666:R3246Q;ENSP00000350854:R3271Q	.|ENSP00000348666:R3246Q	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12338675|12338675	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.604000|7.604000	0.82830|0.82830	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		75	272	0	0	0	1	0	75	272				
KIAA0355	9710	broad.mit.edu	37	19	34832959	34832959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34832959C>T	ENST00000299505.6	+	10	2993	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	707										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGGCTGGGGCACACACACCT	0.632																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(2119-2121)gCa>gTa		KIAA0355							82.0	85.0	84.0					19																	34832959		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832959C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2120C>T	19.37:g.34832959C>T	ENSP00000299505:p.Ala707Val						p.A707V	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			10	2993	+	Esophageal squamous(110;0.162)		707					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2120C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368916	0.61624	.	.	ENSG00000166398	ENST00000299505	T	0.25749	1.78	5.53	4.5	0.54988	.	0.548014	0.19528	N	0.112116	T	0.18841	0.0452	N	0.19112	0.55	0.35247	D	0.778351	B	0.02656	0.0	B	0.06405	0.002	T	0.11966	-1.0566	10	0.87932	D	0	-8.4863	13.4084	0.60926	0.0:0.9245:0.0:0.0755	.	707	O15063	K0355_HUMAN	V	707	ENSP00000299505:A707V	ENSP00000299505:A707V	A	+	2	0	KIAA0355	39524799	0.735000	0.28153	0.988000	0.46212	0.957000	0.61999	4.101000	0.57769	1.344000	0.45657	0.655000	0.94253	GCA		0.632	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		115	534	0	0	0	1	0	115	534				
PSG1	5669	broad.mit.edu	37	19	43372352	43372352	+	Missense_Mutation	SNP	G	G	A	rs534643202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372352G>A	ENST00000436291.2	-	5	1260	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	PSG1_ENST00000403380.3_Missense_Mutation_p.R289C|PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|PSG1_ENST00000244296.2_Missense_Mutation_p.R382C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	382	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTAATATGGCGGATAAAGAGC	0.463													.|||	1	0.000199681	0.0	0.0	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.0					ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1144-1146)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 1							188.0	195.0	193.0					19																	43372352		2201	4298	6499	SO:0001583	missense	0							g.chr19:43372352G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1144C>T	19.37:g.43372352G>A	ENSP00000413041:p.Arg382Cys					PSG1_ENST00000403380.3_Missense_Mutation_p.R289C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C|PSG1_ENST00000436291.2_Missense_Mutation_p.R382C|PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C	p.R382C	NM_006905.2	NP_008836.2					5	1281	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1144C>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	10.39	1.337983	0.24253	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	1.07	1.07	0.20283	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22003	0.0530	M	0.64997	1.995	0.09310	N	1	P;D;P;D;P;D;D	0.60160	0.719;0.972;0.872;0.981;0.753;0.966;0.987	B;P;P;P;B;P;P	0.55011	0.443;0.655;0.69;0.69;0.371;0.717;0.766	T	0.08576	-1.0715	9	0.48119	T	0.1	.	5.469	0.16660	0.0:0.0:1.0:0.0	.	382;289;382;289;382;289;254	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	C	382;289;382;382	ENSP00000413041:R382C;ENSP00000385386:R289C;ENSP00000308970:R382C;ENSP00000244296:R382C	ENSP00000244296:R382C	R	-	1	0	PSG1	48064192	0.017000	0.18338	0.018000	0.16275	0.002000	0.02628	1.671000	0.37513	0.860000	0.35481	0.195000	0.17529	CGC		0.463	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			229	1158	0	0	0	1	0	229	1158				
ARHGAP5	394	broad.mit.edu	37	14	32562094	32562094	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32562094A>C	ENST00000345122.3	+	2	2534	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	740					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCCTCGTAAATTTAATGAA	0.403																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2218-2220)aAa>aCa		Rho GTPase activating protein 5							79.0	78.0	78.0					14																	32562094		2202	4300	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562094A>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2219A>C	14.37:g.32562094A>C	ENSP00000371897:p.Lys740Thr					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T	p.K740T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2534	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		740					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2219A>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795819	0.31777	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.5	5.5	0.81552	.	0.041205	0.85682	D	0.000000	T	0.37892	0.1020	L	0.40543	1.245	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.25291	0.059;0.027	T	0.12372	-1.0550	10	0.33141	T	0.24	.	15.8997	0.79362	1.0:0.0:0.0:0.0	.	740;740	Q13017-2;Q13017	.;RHG05_HUMAN	T	740	ENSP00000452222:K740T;ENSP00000441692:K740T;ENSP00000371897:K740T;ENSP00000393307:K740T	ENSP00000371897:K740T	K	+	2	0	ARHGAP5	31631845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.403000	0.79983	2.206000	0.71126	0.528000	0.53228	AAA		0.403	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		113	423	0	0	0	1	0	113	423				
PIAS4	51588	broad.mit.edu	37	19	4033503	4033503	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4033503T>C	ENST00000262971.2	+	9	1182	c.1067T>C	c.(1066-1068)aTg>aCg	p.M356T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	356					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCTGCAGATGAACGAGAAG	0.677																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(1066-1068)aTg>aCg		protein inhibitor of activated STAT, 4							42.0	37.0	39.0					19																	4033503		2194	4298	6492	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4033503T>C	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1067T>C	19.37:g.4033503T>C	ENSP00000262971:p.Met356Thr						p.M356T	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1182	+			356					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.1067T>C	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928367	0.73327	.	.	ENSG00000105229	ENST00000262971	T	0.16073	2.37	4.21	4.21	0.49690	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.58969	1.84	0.80722	D	1	D	0.55172	0.97	P	0.62813	0.907	T	0.09207	-1.0685	10	0.87932	D	0	-46.3971	12.4927	0.55909	0.0:0.0:0.0:1.0	.	356	Q8N2W9	PIAS4_HUMAN	T	356	ENSP00000262971:M356T	ENSP00000262971:M356T	M	+	2	0	PIAS4	3984503	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.952000	0.87827	1.547000	0.49401	0.459000	0.35465	ATG		0.677	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		15	55	0	0	0	1	0	15	55				
PSMA6	5687	broad.mit.edu	37	14	35783581	35783581	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35783581C>T	ENST00000261479.4	+	6	723	c.603C>T	c.(601-603)tgC>tgT	p.C201C	PSMA6_ENST00000555764.1_Silent_p.C122C|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000540871.1_Silent_p.C182C|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Silent_p.C207C	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAATTACATGCCTGTCTACTG	0.323																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(601-603)tgC>tgT		proteasome (prosome, macropain) subunit, alpha type, 6							60.0	57.0	58.0					14																	35783581		2203	4300	6503	SO:0001819	synonymous_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35783581C>T	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.603C>T	14.37:g.35783581C>T						KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000540871.1_Silent_p.C182C|PSMA6_ENST00000555764.1_Silent_p.C122C|PSMA6_ENST00000553809.1_Silent_p.C207C	p.C201C	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	6	723	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		201					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Silent	SNP	ENST00000261479.4	37	c.603C>T	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	C	1.921	-0.448254	0.04572	.	.	ENSG00000100902	ENST00000556221	.	.	.	5.55	1.72	0.24424	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-13.0287	9.2121	0.37324	0.0:0.5445:0.0:0.4555	.	.	.	.	V	40	.	.	A	+	2	0	PSMA6	34853332	0.972000	0.33761	0.997000	0.53966	0.995000	0.86356	0.247000	0.18179	0.112000	0.17975	0.650000	0.86243	GCC		0.323	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			23	147	0	0	0	1	0	23	147				
PDK4	5166	broad.mit.edu	37	7	95218952	95218952	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95218952C>A	ENST00000005178.5	-	7	968	c.771G>T	c.(769-771)aaG>aaT	p.K257N		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	257	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AGTATCATACCTTAAATAGTT	0.294																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.e7+1		pyruvate dehydrogenase kinase, isozyme 4							87.0	97.0	93.0					7																	95218952		2203	4296	6499	SO:0001630	splice_region_variant	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95218952C>A	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.771+1G>T	7.37:g.95218952C>A							p.K257_splice	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		7	968	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		257			Histidine kinase.			Splice_Site	SNP	ENST00000005178.5	37	c.771_splice	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058879	0.55325	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.55760	0.5	5.59	4.7	0.59300	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82959	-0.0198	9	.	.	.	.	16.1555	0.81664	0.1347:0.8653:0.0:0.0	.	257	Q16654	PDK4_HUMAN	N	257;221	ENSP00000005178:K257N	.	K	-	3	2	PDK4	95056888	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.818000	0.86416	1.482000	0.48325	-0.181000	0.13052	AAG		0.294	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612	Missense_Mutation	10	479	1	0	1.11149e-13	1	1.20163e-13	10	479				
ADAMTS12	81792	broad.mit.edu	37	5	33615950	33615950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33615950C>T	ENST00000504830.1	-	15	2706	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	791	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACAGACTCATTGGTGGGA	0.483										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2371-2373)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 12							142.0	126.0	131.0					5																	33615950		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33615950C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2371G>A	5.37:g.33615950C>T	ENSP00000422554:p.Glu791Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K	p.E791K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			15	2706	-			791			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2371G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472919	0.84640	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.56941	0.43;0.43	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.300984	0.35151	N	0.003404	T	0.74366	0.3707	M	0.89840	3.065	0.80722	D	1	D;D	0.63880	0.986;0.993	P;D	0.64877	0.73;0.93	T	0.74166	-0.3753	10	0.09338	T	0.73	.	18.6763	0.91529	0.0:1.0:0.0:0.0	.	706;791	P58397-3;P58397	.;ATS12_HUMAN	K	791;706	ENSP00000422554:E791K;ENSP00000344847:E706K	ENSP00000344847:E706K	E	-	1	0	ADAMTS12	33651707	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.034000	0.64152	2.481000	0.83766	0.561000	0.74099	GAG		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		92	485	0	0	0	1	0	92	485				
KCNQ5	56479	broad.mit.edu	37	6	73879480	73879480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73879480C>T	ENST00000370398.1	+	11	1589	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L513F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	494					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGACACAGCCCTTGGCACTGA	0.433																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1537-1539)Ctt>Ttt		potassium voltage-gated channel, KQT-like subfamily, member 5							146.0	121.0	130.0					6																	73879480		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73879480C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1480C>T	6.37:g.73879480C>T	ENSP00000359425:p.Leu494Phe					KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L494F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F	p.L513F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	12	1935	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	494					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1537C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995844	0.74703	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.156361	0.44285	D	0.000465	D	0.99174	0.9714	L	0.52573	1.65	0.80722	D	1	D;P;P;D	0.58970	0.957;0.599;0.739;0.984	P;B;B;D	0.67103	0.822;0.27;0.382;0.949	D	0.99960	1.1712	10	0.09590	T	0.72	.	19.295	0.94118	0.0:1.0:0.0:0.0	.	504;513;485;494	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	F	513;513;494;494;504;495;485	ENSP00000345055:L513F;ENSP00000347326:L494F;ENSP00000359425:L494F;ENSP00000385501:L504F;ENSP00000347853:L495F;ENSP00000384453:L485F	ENSP00000345055:L513F	L	+	1	0	KCNQ5	73936201	0.998000	0.40836	0.969000	0.41365	0.965000	0.64279	4.120000	0.57897	2.726000	0.93360	0.655000	0.94253	CTT		0.433	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		47	232	0	0	0	1	0	47	232				
COMP	1311	broad.mit.edu	37	19	18893930	18893930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18893930G>A	ENST00000222271.2	-	18	2205	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	COMP_ENST00000542601.2_Missense_Mutation_p.R688C|COMP_ENST00000425807.1_Missense_Mutation_p.R668C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	721	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACCCCCAGGCGGCCACCCCGC	0.652																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2062-2064)Cgc>Tgc		cartilage oligomeric matrix protein							47.0	48.0	47.0					19																	18893930		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18893930G>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.2161C>T	19.37:g.18893930G>A	ENSP00000222271:p.Arg721Cys					COMP_ENST00000425807.1_Missense_Mutation_p.R668C|COMP_ENST00000222271.2_Missense_Mutation_p.R721C	p.R688C			P49747	COMP_HUMAN			17	2451	-			721			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.2062C>T	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102624	0.76983	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97378	-4.36;-4.36;-4.36	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.64402	U	0.000003	D	0.98692	0.9561	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99813	1.1042	10	0.87932	D	0	-32.7372	15.9884	0.80179	0.0:0.0:1.0:0.0	.	668;721	B4DKJ3;P49747	.;COMP_HUMAN	C	688;721;668;708	ENSP00000439156:R688C;ENSP00000222271:R721C;ENSP00000403792:R668C	ENSP00000222271:R721C	R	-	1	0	COMP	18754930	1.000000	0.71417	0.855000	0.33649	0.811000	0.45836	5.325000	0.65869	2.120000	0.65058	0.313000	0.20887	CGC		0.652	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		47	227	0	0	0	1	0	47	227				
NEXN	91624	broad.mit.edu	37	1	78392549	78392549	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78392549G>A	ENST00000334785.7	+	8	1020	c.836G>A	c.(835-837)cGt>cAt	p.R279H	NEXN_ENST00000457030.1_Missense_Mutation_p.R265H|NEXN_ENST00000330010.8_Missense_Mutation_p.R215H	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGAGAAGCGTGCTTTTGAA	0.348																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(643-645)cGt>cAt		nexilin (F actin binding protein)							86.0	84.0	85.0					1																	78392549		1848	4103	5951	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392549G>A	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.836G>A	1.37:g.78392549G>A	ENSP00000333938:p.Arg279His					NEXN_ENST00000334785.7_Missense_Mutation_p.R279H|NEXN_ENST00000457030.1_Missense_Mutation_p.R265H	p.R215H	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	7	941	+			279			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.644G>A	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.15|16.15	3.042667|3.042667	0.55003|0.55003	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.68765|.	-0.31;-0.01;-0.11;-0.04;-0.35|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.50627|.	D|.	0.000105|.	T|T	0.74076|0.74076	0.3669|0.3669	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.68621|.	0.911;0.959;0.947;0.911|.	T|T	0.73341|0.73341	-0.4013|-0.4013	10|5	0.52906|.	T|.	0.07|.	-7.3584|-7.3584	19.6747|19.6747	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	215;265;279;215|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	H|M	215;265;215;279;265|179	ENSP00000383814:R215H;ENSP00000388048:R265H;ENSP00000327363:R215H;ENSP00000333938:R279H;ENSP00000411902:R265H|.	ENSP00000327363:R215H|.	R|V	+|+	2|1	0|0	NEXN|NEXN	78165137|78165137	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.491000|0.491000	0.33493|0.33493	4.816000|4.816000	0.62642|0.62642	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.348	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		49	357	0	0	0	1	0	49	357				
BTD	686	broad.mit.edu	37	3	15686733	15686733	+	Missense_Mutation	SNP	T	T	C	rs149690919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15686733T>C	ENST00000303498.5	+	4	1479	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	BTD_ENST00000383778.4_Missense_Mutation_p.V437A|BTD_ENST00000437172.1_Missense_Mutation_p.V459A|BTD_ENST00000449107.1_Missense_Mutation_p.V459A	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	457					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TACATCCAAGTGTGTGCCCTG	0.517																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(1309-1311)gTg>gCg		biotinidase		T	ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	107.0	107.0		1370	2.0	0.0	3	dbSNP_134	107	0,8600		0,0,4300	no	missense	BTD	NM_000060.2	64	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	457/544	15686733	1,13005	2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686733T>C	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1370T>C	3.37:g.15686733T>C	ENSP00000306477:p.Val457Ala					BTD_ENST00000449107.1_Missense_Mutation_p.V459A|BTD_ENST00000303498.5_Missense_Mutation_p.V457A|BTD_ENST00000437172.1_Missense_Mutation_p.V459A	p.V437A			P43251	BTD_HUMAN			4	1668	+			457					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.1310T>C	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	T	7.844	0.722630	0.15439	2.27E-4	0.0	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.58	1.98	0.26296	.	0.379003	0.29417	N	0.012208	T	0.75236	0.3822	N	0.12471	0.22	0.31840	N	0.623582	B;B;B	0.15719	0.014;0.014;0.008	B;B;B	0.16289	0.015;0.015;0.015	T	0.66921	-0.5801	10	0.26408	T	0.33	-13.3839	7.5132	0.27585	0.0:0.3816:0.0:0.6184	.	459;459;457	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	A	459;457;459;437	ENSP00000388212:V459A;ENSP00000306477:V457A;ENSP00000400995:V459A;ENSP00000373288:V437A	ENSP00000306477:V457A	V	+	2	0	BTD	15661737	0.856000	0.29760	0.015000	0.15790	0.532000	0.34746	1.300000	0.33436	0.420000	0.25954	0.459000	0.35465	GTG		0.517	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		105	424	0	0	0	1	0	105	424				
KIAA1407	57577	broad.mit.edu	37	3	113697720	113697720	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113697720G>A	ENST00000295878.3	-	15	2591	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	815										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAGCTCTGGATGACTCTCT	0.418																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2443-2445)atC>atT		KIAA1407							196.0	193.0	194.0					3																	113697720		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113697720G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2445C>T	3.37:g.113697720G>A						KIAA1407_ENST00000545063.1_3'UTR	p.I815I	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			15	2591	-			815					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2445C>T	CCDS2977.1																																																																																				0.418	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		167	692	0	0	0	1	0	167	692				
LAMA3	3909	broad.mit.edu	37	18	21390456	21390456	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21390456C>A	ENST00000313654.9	+	13	1971	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	LAMA3_ENST00000399516.3_Missense_Mutation_p.P577H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	577	Domain V.|Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TATGATTTCCCCCACTGCCAA	0.557																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1729-1731)cCc>cAc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89.0	99.0	95.0					18																	21390456		2008	4176	6184	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21390456C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1730C>A	18.37:g.21390456C>A	ENSP00000324532:p.Pro577His					LAMA3_ENST00000399516.3_Missense_Mutation_p.P577H	p.P577H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			13	1971	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		577			Domain V.|Laminin EGF-like 5.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1730C>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510358	0.85389	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.62788	-0.0;-0.0	4.8	4.8	0.61643	EGF-like, laminin (4);	.	.	.	.	D	0.84502	0.5486	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88716	0.3226	9	0.72032	D	0.01	.	17.6374	0.88127	0.0:1.0:0.0:0.0	.	577;577	Q6VU67;Q16787	.;LAMA3_HUMAN	H	577;577;575	ENSP00000324532:P577H;ENSP00000382432:P577H	ENSP00000324532:P577H	P	+	2	0	LAMA3	19644454	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.925000	0.75829	2.516000	0.84829	0.561000	0.74099	CCC		0.557	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	389	1	0	0.000442599	1	0.000448314	9	389				
ACCSL	390110	broad.mit.edu	37	11	44074969	44074969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44074969G>A	ENST00000378832.1	+	8	1018	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	321					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAAAAGGTCCGAGGCCTTGTG	0.433																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(961-963)cGa>cAa		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							108.0	102.0	104.0					11																	44074969		1846	4083	5929	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44074969G>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.962G>A	11.37:g.44074969G>A	ENSP00000368109:p.Arg321Gln						p.R321Q	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			8	1018	+			321						Missense_Mutation	SNP	ENST00000378832.1	37	c.962G>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933436	0.34096	.	.	ENSG00000205126	ENST00000378832	T	0.25749	1.78	4.45	-2.01	0.07410	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.408973	0.27677	N	0.018317	T	0.48589	0.1508	M	0.89214	3.015	0.30832	N	0.736595	D	0.67145	0.996	D	0.68039	0.955	T	0.54132	-0.8339	10	0.72032	D	0.01	-0.7774	9.967	0.41730	0.6527:0.0:0.3473:0.0	.	321	Q4AC99	1A1L2_HUMAN	Q	321	ENSP00000368109:R321Q	ENSP00000368109:R321Q	R	+	2	0	ACCSL	44031545	0.998000	0.40836	0.132000	0.22025	0.002000	0.02628	0.541000	0.23207	-0.521000	0.06426	-0.140000	0.14226	CGA		0.433	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		54	245	0	0	0	1	0	54	245				
ATF4P4	100127952	broad.mit.edu	37	11	113661438	113661438	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113661438G>A	ENST00000393544.2	+	0	1486									activating transcription factor 4 pseudogene 4																		CTAATAAGGAGACCCCCAGAC	0.507																																						ENST00000393544.2																			0																																																			0							g.chr11:113661438G>A			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661438G>A														0	1486	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.507	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		146	654	0	0	0	1	0	146	654				
DAAM2	23500	broad.mit.edu	37	6	39864744	39864744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39864744C>A	ENST00000398904.2	+	20	2680	c.2498C>A	c.(2497-2499)tCc>tAc	p.S833Y	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	833	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACACCAAGTCCAGCATCGAC	0.592																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2497-2499)tCc>tAc		dishevelled associated activator of morphogenesis 2							41.0	46.0	44.0					6																	39864744		2061	4195	6256	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864744C>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2498C>A	6.37:g.39864744C>A	ENSP00000381876:p.Ser833Tyr					DAAM2_ENST00000398904.2_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000430595.1_RNA	p.S833Y	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			20	2680	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		833			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2498C>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692462	0.88735	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.69040	-0.37;-0.37;-0.37	4.66	4.66	0.58398	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.141332	0.49305	D	0.000143	D	0.84857	0.5565	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89137	0.3514	10	0.87932	D	0	.	16.4674	0.84083	0.0:1.0:0.0:0.0	.	833;833	G5EA45;Q86T65	.;DAAM2_HUMAN	Y	833	ENSP00000274867:S833Y;ENSP00000381876:S833Y;ENSP00000437808:S833Y	ENSP00000274867:S833Y	S	+	2	0	DAAM2	39972722	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.645000	0.83430	2.433000	0.82419	0.561000	0.74099	TCC		0.592	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			40	172	1	0	7.63091e-17	1	8.40161e-17	40	172				
BOD1L1	259282	broad.mit.edu	37	4	13597566	13597566	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13597566A>C	ENST00000040738.5	-	12	8157	c.8022T>G	c.(8020-8022)gcT>gcG	p.A2674A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2674						nucleus (GO:0005634)	DNA binding (GO:0003677)										AAGGCACATAAGCCTAAAAAA	0.393																																						ENST00000040738.5																			0											c.(8020-8022)gcT>gcG		biorientation of chromosomes in cell division 1-like 1							125.0	130.0	128.0					4																	13597566		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13597566A>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8022T>G	4.37:g.13597566A>C							p.A2674A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			12	8157	-			2674					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.8022T>G	CCDS3411.2																																																																																				0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		58	587	0	0	0	1	0	58	587				
IGHV3-49	28423	broad.mit.edu	37	14	107013102	107013102	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107013102C>A	ENST00000390625.2	-	0	272									immunoglobulin heavy variable 3-49																		CCTACCCACTCCAGCCCCTTC	0.517																																						ENST00000390625.2																			0																				84.0	82.0	83.0					14																	107013102		1887	4104	5991			0							g.chr14:107013102C>A	M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013102C>A														0	272	-									RNA	SNP	ENST00000390625.2	37																																																																																						0.517	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324613.1	NG_001019		95	484	1	0	1.36039e-67	1	1.72364e-67	95	484				
FGGY	55277	broad.mit.edu	37	1	60139717	60139717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60139717C>T	ENST00000303721.7	+	14	1598	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	FGGY_ENST00000371212.1_Missense_Mutation_p.P387L|FGGY_ENST00000371218.4_Missense_Mutation_p.P499L|FGGY_ENST00000371210.1_Missense_Mutation_p.P176L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	475					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCAGGCATGCCTGTGGTCCTG	0.582																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1495-1497)cCt>cTt		FGGY carbohydrate kinase domain containing							195.0	126.0	149.0					1																	60139717		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60139717C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1424C>T	1.37:g.60139717C>T	ENSP00000305922:p.Pro475Leu					FGGY_ENST00000371210.1_Missense_Mutation_p.P176L|FGGY_ENST00000303721.7_Missense_Mutation_p.P475L|FGGY_ENST00000371212.1_Missense_Mutation_p.P387L	p.P499L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			15	1680	+	all_cancers(7;7.36e-05)		475					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.1496C>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707696	0.89018	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.55	5.55	0.83447	Carbohydrate kinase, FGGY, C-terminal (1);	0.053130	0.85682	D	0.000000	D	0.96626	0.8899	H	0.96333	3.805	0.80722	D	1	D;P;D;P	0.89917	1.0;0.85;1.0;0.91	D;P;D;P	0.97110	1.0;0.599;1.0;0.737	D	0.97244	0.9893	9	.	.	.	-9.9795	19.6873	0.95984	0.0:1.0:0.0:0.0	.	499;387;475;475	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	499;475;387;176	ENSP00000360262:P499L;ENSP00000305922:P475L;ENSP00000360256:P387L;ENSP00000360254:P176L	.	P	+	2	0	FGGY	59912305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.929000	0.75852	2.890000	0.99128	0.585000	0.79938	CCT		0.582	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		13	75	0	0	0	1	0	13	75				
GABBR1	2550	broad.mit.edu	37	6	29588918	29588918	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29588918A>T	ENST00000377034.4	-	11	1618	c.1283T>A	c.(1282-1284)gTc>gAc	p.V428D	GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D|GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	428					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATTCAGCATGACAATCTCAGT	0.537																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1282-1284)gTc>gAc		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						144.0	110.0	122.0					6																	29588918		1511	2709	4220	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29588918A>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1283T>A	6.37:g.29588918A>T	ENSP00000366233:p.Val428Asp					GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D|GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D	p.V428D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			11	1618	-			428					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1283T>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	a	25.9	4.685199	0.88639	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.91635	0.947;0.943;0.999;0.999	D	0.83484	0.0066	10	0.72032	D	0.01	-16.2389	13.8215	0.63322	1.0:0.0:0.0:0.0	.	428;366;428;311	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	D	311;428;366;311;428	ENSP00000348248:V311D;ENSP00000366176:V428D;ENSP00000366215:V366D;ENSP00000366211:V311D;ENSP00000366233:V428D	ENSP00000348248:V311D	V	-	2	0	GABBR1	29696897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.806000	0.91930	2.168000	0.68352	0.520000	0.50463	GTC		0.537	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			13	297	0	0	0	1	0	13	297				
RSPH4A	345895	broad.mit.edu	37	6	116938420	116938420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116938420C>T	ENST00000229554.5	+	1	771	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	212					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATCACCATTCAGAATGCTAA	0.478									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(634-636)Cag>Tag		radial spoke head 4 homolog A (Chlamydomonas)							67.0	78.0	75.0					6																	116938420		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938420C>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.634C>T	6.37:g.116938420C>T	ENSP00000229554:p.Gln212*					RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*	p.Q212*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			1	771	+			212					B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.634C>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998061	0.93227	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842;ENST00000368580	.	.	.	5.01	4.13	0.48395	.	0.318663	0.31721	N	0.007164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-1.7371	11.2373	0.48949	0.0:0.8155:0.1845:0.0	.	.	.	.	X	212;212;7;212	.	ENSP00000229554:Q212X	Q	+	1	0	RSPH4A	117045113	0.995000	0.38212	0.899000	0.35326	0.479000	0.33129	4.048000	0.57390	1.314000	0.45095	0.467000	0.42956	CAG		0.478	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		133	554	0	0	0	1	0	133	554				
RNF123	63891	broad.mit.edu	37	3	49753836	49753836	+	Silent	SNP	C	C	T	rs377690361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753836C>T	ENST00000327697.6	+	35	3570	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_ENST00000433785.1_Silent_p.S254S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1142					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTAGAGAGCGTGGACCACT	0.632																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3424-3426)agC>agT		ring finger protein 123		C		2,4404	4.2+/-10.8	0,2,2201	247.0	249.0	248.0		3426	-5.3	0.8	3		248	0,8600		0,0,4300	no	coding-synonymous	RNF123	NM_022064.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1142/1315	49753836	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753836C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3426C>T	3.37:g.49753836C>T						RNF123_ENST00000433785.1_Silent_p.S254S	p.S1142S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	35	3570	+			1142					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.3426C>T	CCDS33758.1																																																																																				0.632	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		265	1288	0	0	0	1	0	265	1288				
LRCH3	84859	broad.mit.edu	37	3	197566213	197566213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197566213G>A	ENST00000425562.2	+	10	1273	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T|LRCH3_ENST00000438796.2_Missense_Mutation_p.A425T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	425						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AAAGCCAGTAGCCATTAGGGA	0.333																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1273-1275)Gcc>Acc		leucine-rich repeats and calponin homology (CH) domain containing 3							52.0	53.0	53.0					3																	197566213		2203	4298	6501	SO:0001583	missense	84859					extracellular region		g.chr3:197566213G>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1273G>A	3.37:g.197566213G>A	ENSP00000393579:p.Ala425Thr					LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T|LRCH3_ENST00000425562.2_Missense_Mutation_p.A425T|LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T	p.A425T			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	10	1317	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		425					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1273G>A		.	.	.	.	.	.	.	.	.	.	G	11.59	1.682980	0.29872	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.44482	2.16;1.53;2.11;2.4;2.18;0.92	5.74	2.91	0.33838	.	0.371383	0.29501	N	0.011961	T	0.23649	0.0572	N	0.14661	0.345	0.22240	N	0.999261	B;B;B;B;B	0.31949	0.054;0.236;0.052;0.054;0.348	B;B;B;B;B	0.32980	0.05;0.05;0.075;0.05;0.156	T	0.19128	-1.0315	10	0.10902	T	0.67	-0.0471	11.7902	0.52065	0.0:0.5848:0.3295:0.0857	.	271;397;425;425;425	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	T	425;271;397;425;425;20	ENSP00000399751:A425T;ENSP00000394609:A271T;ENSP00000394965:A397T;ENSP00000334375:A425T;ENSP00000393579:A425T;ENSP00000439083:A20T	ENSP00000334375:A425T	A	+	1	0	LRCH3	199050610	0.304000	0.24472	0.413000	0.26509	0.581000	0.36288	0.873000	0.28052	0.418000	0.25898	-0.182000	0.12963	GCC		0.333	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		33	152	0	0	0	1	0	33	152				
ANKRD52	283373	broad.mit.edu	37	12	56639194	56639194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56639194C>T	ENST00000267116.7	-	21	2492	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	791										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCGAGTATCCGCTGTAATCC	0.617																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2371-2373)Gga>Aga		ankyrin repeat domain 52							23.0	26.0	25.0					12																	56639194		2061	4198	6259	SO:0001583	missense	283373						protein binding	g.chr12:56639194C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2371G>A	12.37:g.56639194C>T	ENSP00000267116:p.Gly791Arg						p.G791R	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			21	2492	-			791					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2371G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230425	0.79688	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.27890	1.64	4.07	4.07	0.47477	Ankyrin repeat-containing domain (4);	0.330506	0.28182	N	0.016299	T	0.54078	0.1836	M	0.72118	2.19	0.58432	D	0.999992	D	0.71674	0.998	D	0.72625	0.978	T	0.60449	-0.7261	10	0.87932	D	0	.	15.5589	0.76223	0.0:1.0:0.0:0.0	.	791	Q8NB46	ANR52_HUMAN	R	791	ENSP00000267116:G791R	ENSP00000267116:G791R	G	-	1	0	ANKRD52	54925461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.022000	0.70839	2.291000	0.77112	0.491000	0.48974	GGA		0.617	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		32	112	0	0	0	1	0	32	112				
GORASP2	26003	broad.mit.edu	37	2	171804913	171804913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171804913T>G	ENST00000234160.4	+	2	932	c.117T>G	c.(115-117)ttT>ttG	p.F39L	GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	39	PDZ.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCTTTGATTTTATTGTTTCTA	0.328																																						ENST00000234160.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(115-117)ttT>ttG		golgi reassembly stacking protein 2, 55kDa							107.0	114.0	112.0					2																	171804913		2203	4300	6503	SO:0001583	missense	26003					Golgi membrane		g.chr2:171804913T>G		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.117T>G	2.37:g.171804913T>G	ENSP00000234160:p.Phe39Leu					GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L|GORASP2_ENST00000493692.1_3'UTR	p.F39L	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN			2	932	+			39			PDZ.		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	c.117T>G	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583517	0.86748	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.27402	1.67;1.67	5.73	5.73	0.89815	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.67421	-0.5675	10	0.72032	D	0.01	-19.5199	16.3265	0.82983	0.0:0.0:0.0:1.0	.	51;39	B4DKT0;Q9H8Y8	.;GORS2_HUMAN	L	39;51	ENSP00000234160:F39L;ENSP00000410208:F51L	ENSP00000234160:F39L	F	+	3	2	GORASP2	171513159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.518000	0.35877	2.313000	0.78055	0.455000	0.32223	TTT		0.328	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			35	224	0	0	0	1	0	35	224				
ZNF550	162972	broad.mit.edu	37	19	58058796	58058796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58058796C>T	ENST00000457177.1	-	4	996	c.816G>A	c.(814-816)tcG>tcA	p.S272S	ZNF550_ENST00000325134.5_Silent_p.S240S|ZNF550_ENST00000506609.2_Silent_p.S231S|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATGAGGTACGACCTGCGTT	0.512																																						ENST00000325134.5																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(718-720)tcG>tcA		zinc finger protein 550							127.0	105.0	113.0					19																	58058796		2203	4300	6503	SO:0001819	synonymous_variant	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058796C>T	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.816G>A	19.37:g.58058796C>T						ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000506609.2_Silent_p.S231S|ZNF550_ENST00000457177.1_Silent_p.S272S	p.S240S			Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	876	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	272					B3KVF6|O43337|Q7Z6D7|Q8NE45	Silent	SNP	ENST00000457177.1	37	c.720G>A																																																																																					0.512	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		69	259	0	0	0	1	0	69	259				
NR2C1	7181	broad.mit.edu	37	12	95422292	95422292	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422292A>T	ENST00000333003.5	-	12	1732	c.1402T>A	c.(1402-1404)Tca>Aca	p.S468T	NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	468					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTTTCTGTTGACATTTTATCT	0.303																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1402-1404)Tca>Aca		nuclear receptor subfamily 2, group C, member 1							91.0	86.0	88.0					12																	95422292		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95422292A>T	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1402T>A	12.37:g.95422292A>T	ENSP00000333275:p.Ser468Thr					NR2C1_ENST00000545833.1_Intron	p.S468T	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			12	1732	-			468					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1402T>A	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690083	0.48097	.	.	ENSG00000120798	ENST00000333003	D	0.96830	-4.14	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.057030	0.64402	D	0.000001	D	0.93621	0.7963	L	0.45581	1.43	0.80722	D	1	P	0.43938	0.822	B	0.42738	0.396	D	0.91549	0.5255	10	0.24483	T	0.36	.	10.1495	0.42784	0.9153:0.0:0.0847:0.0	.	468	P13056	NR2C1_HUMAN	T	468	ENSP00000333275:S468T	ENSP00000333275:S468T	S	-	1	0	NR2C1	93946423	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.432000	0.59922	2.024000	0.59613	0.460000	0.39030	TCA		0.303	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		32	200	0	0	0	1	0	32	200				
YIPF3	25844	broad.mit.edu	37	6	43480841	43480841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480841G>A	ENST00000372422.2	-	6	814	c.632C>T	c.(631-633)gCc>gTc	p.A211V	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.A217V	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	211					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGTGATCTGGGCGTTGCACAG	0.567																																						ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(631-633)gCc>gTc		Yip1 domain family, member 3							123.0	124.0	124.0					6																	43480841		2203	4300	6503	SO:0001583	missense	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480841G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.632C>T	6.37:g.43480841G>A	ENSP00000361499:p.Ala211Val					YIPF3_ENST00000506469.1_Missense_Mutation_p.A217V	p.A211V	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		6	814	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		211					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	c.632C>T	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590806	0.66219	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469	T;T	0.44482	0.92;0.92	5.62	4.75	0.60458	.	0.050002	0.85682	D	0.000000	T	0.26557	0.0649	L	0.43152	1.355	0.80722	D	1	P;B;P;B	0.42296	0.775;0.06;0.573;0.06	B;B;B;B	0.41412	0.356;0.028;0.14;0.028	T	0.04678	-1.0934	10	0.44086	T	0.13	-23.0835	13.9454	0.64082	0.0726:0.0:0.9274:0.0	.	160;217;176;211	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	V	211;160;217	ENSP00000361499:A211V;ENSP00000425494:A217V	ENSP00000361499:A211V	A	-	2	0	YIPF3	43588819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	2.653000	0.90120	0.655000	0.94253	GCC		0.567	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		21	824	0	0	0	1	0	21	824				
IL18BP	10068	broad.mit.edu	37	11	71715829	71715829	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71715829C>A	ENST00000393703.4	+	0	1788				NUMA1_ENST00000393695.3_Nonsense_Mutation_p.E1955*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.E1941*|NUMA1_ENST00000351960.6_Nonsense_Mutation_p.E819*	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GTTTTCATCTCCTCATCTGTG	0.607																																						ENST00000393695.3										T					RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5863-5865)Gag>Tag		nuclear mitotic apparatus protein 1							42.0	41.0	42.0					11																	71715829		2200	4293	6493	SO:0001628	intergenic_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71715829C>A	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715829C>A						NUMA1_ENST00000351960.6_Nonsense_Mutation_p.E819*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.E1941*	p.E1955*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			24	6194	-			1955					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Nonsense_Mutation	SNP	ENST00000393703.4	37	c.5863G>T	CCDS8206.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	48|48	14.390680|14.390680	0.99793|0.99793	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.111531|.	0.40385|.	N|.	0.001118|.	.|T	.|0.74809	.|0.3765	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73652	.|-0.3915	.|3	0.38643|.	T|.	0.18|.	.|.	18.5904|18.5904	0.91210|0.91210	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	819;1941;1955;1504;928|803	.|.	ENSP00000260051:E819X|.	E|R	-|-	1|3	0|2	NUMA1|NUMA1	71393477|71393477	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.264000|4.264000	0.58859|0.58859	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.607	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		8	221	1	0	0.00307968	1	0.00310409	8	221				
BTN3A2	11118	broad.mit.edu	37	6	26370661	26370661	+	Missense_Mutation	SNP	C	C	A	rs147417438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370661C>A	ENST00000356386.2	+	5	733	c.545C>A	c.(544-546)gCc>gAc	p.A182D	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	182			A -> T (in dbSNP:rs12205731). {ECO:0000269|PubMed:14702039}.		interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGGAGCAACGCCAAGGGAGAG	0.557																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(544-546)gCc>gAc		butyrophilin, subfamily 3, member A2		C	ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA,ASP/ALA	1,4405	2.1+/-5.4	0,1,2202	132.0	118.0	122.0		545,545,476,419,545	-2.6	0.0	6	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	BTN3A2	NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3	126,126,126,126,126	0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign	182/335,182/335,159/312,140/293,182/335	26370661	2,13004	2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370661C>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.545C>A	6.37:g.26370661C>A	ENSP00000348751:p.Ala182Asp					BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D	p.A182D	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	733	+			182		A -> T (in dbSNP:rs12205731).			B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.545C>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	c	1.724	-0.495838	0.04291	2.27E-4	1.16E-4	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.73152	-0.72;3.28;3.28;3.28;3.28;3.28;3.28	2.31	-2.56	0.06268	Immunoglobulin-like fold (1);	.	.	.	.	T	0.39118	0.1066	M	0.71036	2.16	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29336	-1.0015	9	0.42905	T	0.14	.	0.2854	0.00250	0.2052:0.3016:0.2027:0.2904	.	159;182	F8W6E0;P78410	.;BT3A2_HUMAN	D	140;182;182;182;159;182;182;140	ENSP00000435952:A140D;ENSP00000432138:A182D;ENSP00000348751:A182D;ENSP00000380140:A159D;ENSP00000366937:A182D;ENSP00000380152:A182D;ENSP00000442687:A140D	ENSP00000348751:A182D	A	+	2	0	BTN3A2	26478640	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.692000	0.05127	-0.704000	0.05042	0.405000	0.27470	GCC		0.557	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			30	420	1	0	1.49552e-23	1	1.70131e-23	30	420				
GFRAL	389400	broad.mit.edu	37	6	55216312	55216312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55216312C>T	ENST00000340465.2	+	5	718	c.632C>T	c.(631-633)gCa>gTa	p.A211V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	211					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGACATGTGCAGTGAACATG	0.428																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(631-633)gCa>gTa		GDNF family receptor alpha like							108.0	106.0	107.0					6																	55216312		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216312C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.632C>T	6.37:g.55216312C>T	ENSP00000343636:p.Ala211Val						p.A211V	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	718	+	Lung NSC(77;0.0875)|Renal(3;0.122)		211					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.632C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120224	0.56613	.	.	ENSG00000187871	ENST00000340465	T	0.42513	0.97	6.05	5.19	0.71726	.	0.062950	0.64402	D	0.000005	T	0.30947	0.0781	L	0.59436	1.845	0.39501	D	0.968204	P	0.43314	0.803	B	0.40702	0.338	T	0.31724	-0.9933	10	0.87932	D	0	-5.4052	15.1396	0.72601	0.0:0.9328:0.0:0.0672	.	211	Q6UXV0	GFRAL_HUMAN	V	211	ENSP00000343636:A211V	ENSP00000343636:A211V	A	+	2	0	GFRAL	55324271	0.997000	0.39634	0.897000	0.35233	0.739000	0.42172	3.913000	0.56394	1.566000	0.49654	0.650000	0.86243	GCA		0.428	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		90	403	0	0	0	1	0	90	403				
MYH2	4620	broad.mit.edu	37	17	10438497	10438497	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10438497C>A	ENST00000245503.5	-	19	2457	c.2073G>T	c.(2071-2073)gaG>gaT	p.E691D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	691	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAGCTCATGCTCCATGGCAC	0.453																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2071-2073)gaG>gaT		myosin, heavy chain 2, skeletal muscle, adult							85.0	80.0	82.0					17																	10438497		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10438497C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2073G>T	17.37:g.10438497C>A	ENSP00000245503:p.Glu691Asp					CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|CTC-297N7.7_ENST00000399342.2_RNA	p.E691D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			19	2457	-			691			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2073G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	3.634	-0.074998	0.07184	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85013	-1.93;-1.93	5.1	2.96	0.34315	Myosin head, motor domain (2);	0.000000	0.39475	U	0.001342	T	0.55737	0.1939	N	0.01152	-0.98	0.41702	D	0.989408	B	0.02656	0.0	B	0.06405	0.002	T	0.57394	-0.7819	10	0.02654	T	1	.	8.1088	0.30903	0.0:0.6937:0.0:0.3063	.	691	Q9UKX2	MYH2_HUMAN	D	691	ENSP00000245503:E691D;ENSP00000380367:E691D	ENSP00000245503:E691D	E	-	3	2	MYH2	10379222	0.222000	0.23652	1.000000	0.80357	0.845000	0.48019	-0.368000	0.07543	1.363000	0.46019	0.591000	0.81541	GAG		0.453	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		60	240	1	0	9.72345e-25	1	1.11288e-24	60	240				
PCSK5	5125	broad.mit.edu	37	9	78947380	78947380	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78947380C>A	ENST00000545128.1	+	33	5059	c.4521C>A	c.(4519-4521)ggC>ggA	p.G1507G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1507	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCCAGAGGGCTATTATGCCG	0.542																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4519-4521)ggC>ggA		proprotein convertase subtilisin/kexin type 5							92.0	81.0	84.0					9																	78947380		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78947380C>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4521C>A	9.37:g.78947380C>A							p.G1507G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			33	5059	+			677					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.4521C>A	CCDS55320.1																																																																																				0.542	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				30	177	1	0	3.90053e-15	1	4.25374e-15	30	177				
WDR73	84942	broad.mit.edu	37	15	85191804	85191804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85191804C>T	ENST00000434634.2	-	4	311	c.251G>A	c.(250-252)aGg>aAg	p.R84K	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	84										cervix(1)|large_intestine(1)|lung(1)	3						AAAGATAGACCTGTCTGAAAA	0.453																																						ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(250-252)aGg>aAg		WD repeat domain 73							165.0	164.0	164.0					15																	85191804		1942	4136	6078	SO:0001583	missense	84942							g.chr15:85191804C>T	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.251G>A	15.37:g.85191804C>T	ENSP00000387982:p.Arg84Lys					WDR73_ENST00000398528.3_5'UTR	p.R84K	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			4	311	-			84					Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	37	c.251G>A	CCDS45339.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432820	0.25813	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.28454	1.61	5.91	0.265	0.15612	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.613293	0.17647	N	0.166813	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.14172	-1.0482	10	0.45353	T	0.12	-11.0667	4.9785	0.14153	0.0:0.4561:0.1674:0.3765	.	84;84	B4DI20;Q6P4I2	.;WDR73_HUMAN	K	92;84	ENSP00000387982:R84K	ENSP00000381539:R92K	R	-	2	0	WDR73	82992808	0.000000	0.05858	0.009000	0.14445	0.936000	0.57629	0.010000	0.13242	0.089000	0.17243	0.655000	0.94253	AGG		0.453	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		79	487	0	0	0	1	0	79	487				
C3orf67	200844	broad.mit.edu	37	3	58739540	58739540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58739540G>A	ENST00000482387.1	-	12	2009	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	C3orf67_ENST00000295966.7_Missense_Mutation_p.P512L			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	638										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGCTCAGCCGGCTGTTGACT	0.378																																						ENST00000295966.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1534-1536)cCg>cTg		chromosome 3 open reading frame 67							55.0	57.0	56.0					3																	58739540		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58739540G>A	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1913C>T	3.37:g.58739540G>A	ENSP00000417122:p.Pro638Leu					C3orf67_ENST00000482387.1_Missense_Mutation_p.P638L	p.P512L	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	15	2038	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	504					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.1535C>T		.	.	.	.	.	.	.	.	.	.	G	6.641	0.486807	0.12641	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.18016	2.27;2.24	5.77	5.77	0.91146	.	0.402448	0.25138	N	0.032848	T	0.18635	0.0447	L	0.36672	1.1	0.42549	D	0.993106	P;D	0.61080	0.802;0.989	B;P	0.48488	0.274;0.579	T	0.00314	-1.1824	10	0.54805	T	0.06	-4.0276	9.7198	0.40295	0.1216:0.0:0.8784:0.0	.	512;638	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	L	512;638	ENSP00000295966:P512L;ENSP00000417122:P638L	ENSP00000295966:P512L	P	-	2	0	C3orf67	58714580	0.226000	0.23696	0.513000	0.27749	0.514000	0.34195	3.925000	0.56484	2.885000	0.99019	0.650000	0.86243	CCG		0.378	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		37	171	0	0	0	1	0	37	171				
TRRAP	8295	broad.mit.edu	37	7	98565232	98565232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98565232C>T	ENST00000359863.4	+	50	7611	c.7402C>T	c.(7402-7404)Cgt>Tgt	p.R2468C	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2450C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2468					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCATGAAACGTCGTGTCTA	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7402-7404)Cgt>Tgt		transformation/transcription domain-associated protein							89.0	75.0	80.0					7																	98565232		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98565232C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7402C>T	7.37:g.98565232C>T	ENSP00000352925:p.Arg2468Cys					TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2450C	p.R2468C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		50	7611	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2468					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7402C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537194	0.96460	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03386	3.95;3.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.966;0.88;0.932	T	0.00002	-1.2633	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2450;2189;2468	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2468;2450;2449	ENSP00000352925:R2468C;ENSP00000347733:R2450C	ENSP00000347733:R2450C	R	+	1	0	TRRAP	98403168	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	5.970000	0.70431	2.941000	0.99782	0.655000	0.94253	CGT		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		26	352	0	0	0	1	0	26	352				
FAM24A	118670	broad.mit.edu	37	10	124671154	124671154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124671154G>A	ENST00000368894.1	+	2	125	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region (GO:0005576)		p.A2T(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTTAGGCATGGCAAAGATGTT	0.502																																						ENST00000368894.1																			1	Substitution - Missense(1)	p.A2T(1)	large_intestine(1)	large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(4-6)Gca>Aca		family with sequence similarity 24, member A							302.0	253.0	270.0					10																	124671154		2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124671154G>A		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.4G>A	10.37:g.124671154G>A	ENSP00000357889:p.Ala2Thr						p.A2T	NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	125	+		all_neural(114;0.169)|Glioma(114;0.222)	2						Missense_Mutation	SNP	ENST00000368894.1	37	c.4G>A	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	G	7.744	0.701867	0.15172	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.15	-2.45	0.06481	.	.	.	.	.	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.17098	0.017	T	0.24119	-1.0169	8	0.23302	T	0.38	.	6.5539	0.22450	0.0:0.1316:0.6108:0.2575	.	2	A6NFZ4	FA24A_HUMAN	T	2	.	ENSP00000357889:A2T	A	+	1	0	FAM24A	124661144	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.384000	0.01063	-0.482000	0.06782	-0.521000	0.04368	GCA		0.502	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		30	920	0	0	0	1	0	30	920				
INSR	3643	broad.mit.edu	37	19	7142938	7142938	+	Missense_Mutation	SNP	C	C	T	rs35045353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7142938C>T	ENST00000302850.5	-	12	2573	c.2431G>A	c.(2431-2433)Ggc>Agc	p.G811S	INSR_ENST00000341500.5_Missense_Mutation_p.G799S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	811	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		G -> S (in dbSNP:rs35045353). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGTCGCAAGCCGGAGATGACC	0.612																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(2395-2397)Ggc>Agc		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						117.0	70.0	86.0					19																	7142938		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7142938C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2431G>A	19.37:g.7142938C>T	ENSP00000303830:p.Gly811Ser					INSR_ENST00000302850.5_Missense_Mutation_p.G811S	p.G799S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			11	2434	-			811			Fibronectin type-III 2.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.2395G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919593	0.52653	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.71579	-0.58;-0.58	5.56	5.56	0.83823	Fibronectin, type III (3);	0.000000	0.45867	U	0.000332	T	0.70245	0.3202	M	0.79123	2.44	0.45822	D	0.998691	B;B	0.34200	0.103;0.441	B;B	0.27796	0.083;0.061	T	0.70788	-0.4777	10	0.36615	T	0.2	.	17.0297	0.86457	0.0:1.0:0.0:0.0	rs35045353	799;811	P06213-2;P06213	.;INSR_HUMAN	S	811;799	ENSP00000303830:G811S;ENSP00000342838:G799S	ENSP00000303830:G811S	G	-	1	0	INSR	7093938	0.970000	0.33590	0.957000	0.39632	0.675000	0.39556	2.293000	0.43558	2.609000	0.88269	0.655000	0.94253	GGC		0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			25	122	0	0	0	1	0	25	122				
RPTOR	57521	broad.mit.edu	37	17	78796055	78796055	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78796055C>A	ENST00000306801.3	+	8	1307	c.945C>A	c.(943-945)atC>atA	p.I315I	RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I315I|RPTOR_ENST00000570891.1_Silent_p.I315I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	315					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGAACTGGATCTTCACAGCCA	0.637																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(943-945)atC>atA		regulatory associated protein of MTOR, complex 1							207.0	203.0	204.0					17																	78796055		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78796055C>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.945C>A	17.37:g.78796055C>A						RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000570891.1_Silent_p.I315I|RPTOR_ENST00000544334.2_Silent_p.I315I|RPTOR_ENST00000575542.1_3'UTR	p.I315I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			8	1307	+			315					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.945C>A	CCDS11773.1																																																																																				0.637	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		272	1396	1	0	1.08273e-52	1	1.34737e-52	272	1396				
ODF2	4957	broad.mit.edu	37	9	131243904	131243904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131243904C>T	ENST00000434106.3	+	9	1252	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000351030.3_Silent_p.L292L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000604420.1_Silent_p.L297L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000372791.3_Silent_p.L278L|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000393527.3_Silent_p.L273L|ODF2_ENST00000372814.3_Silent_p.L341L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	297					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCTGAAACGGCTGGCGGAGGC	0.483																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(817-819)Ctg>Ttg		outer dense fiber of sperm tails 2							94.0	89.0	91.0					9																	131243904		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131243904C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.889C>T	9.37:g.131243904C>T						ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000372796.4_Silent_p.L297L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000372814.3_Silent_p.L341L|ODF2_ENST00000434106.2_Silent_p.L297L|ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000351030.3_Silent_p.L292L|ODF2_ENST00000372791.3_Silent_p.L278L	p.L273L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			11	1402	+			297					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.817C>T	CCDS56588.1																																																																																				0.483	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			31	200	0	0	0	1	0	31	200				
DDX3X	1654	broad.mit.edu	37	X	41204512	41204512	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41204512A>G	ENST00000399959.2	+	11	1960	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	369	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CGAACAAGATACTATGCCTCC	0.378										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1105-1107)Act>Gct		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							141.0	135.0	137.0					X																	41204512		2167	4289	6456	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41204512A>G	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1105A>G	X.37:g.41204512A>G	ENSP00000382840:p.Thr369Ala	HNSCC(61;0.18)				DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A	p.T369A	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			11	1960	+			369			Helicase ATP-binding.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1105A>G	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	a	15.73	2.920645	0.52653	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.16897	2.31;2.31	5.37	5.37	0.77165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.10874	0.06	0.80722	D	1	B;B;B;B	0.10296	0.003;0.002;0.001;0.001	B;B;B;B	0.15052	0.012;0.008;0.012;0.012	T	0.11767	-1.0574	10	0.36615	T	0.2	-5.5069	14.5265	0.67892	1.0:0.0:0.0:0.0	.	369;353;381;369	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	A	369;353	ENSP00000382840:T369A;ENSP00000392494:T353A	ENSP00000382840:T369A	T	+	1	0	DDX3X	41089456	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.520000	0.81821	1.810000	0.52873	0.427000	0.28365	ACT		0.378	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		143	439	0	0	0	1	0	143	439				
CHD1L	9557	broad.mit.edu	37	1	146766148	146766148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146766148C>T	ENST00000369258.4	+	22	2584	c.2564C>T	c.(2563-2565)aCt>aTt	p.T855I	CHD1L_ENST00000369259.3_Missense_Mutation_p.T651I|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.T761I|CHD1L_ENST00000361293.5_Missense_Mutation_p.T574I	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	855	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGGTATGGTACTGAGCGACTT	0.418																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2563-2565)aCt>aTt		chromodomain helicase DNA binding protein 1-like							277.0	240.0	253.0					1																	146766148		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146766148C>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2564C>T	1.37:g.146766148C>T	ENSP00000358262:p.Thr855Ile					CHD1L_ENST00000361293.5_Missense_Mutation_p.T574I|CHD1L_ENST00000369259.3_Missense_Mutation_p.T651I|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.T761I	p.T855I	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			22	2584	+	all_hematologic(923;0.0487)		855			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.2564C>T	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593805	0.66219	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.7	5.7	0.88788	Appr-1-p processing (1);	0.050779	0.85682	D	0.000000	T	0.36880	0.0983	N	0.13352	0.335	0.80722	D	1	P;D;P	0.89917	0.89;1.0;0.915	P;D;B	0.91635	0.692;0.999;0.411	T	0.26538	-1.0100	10	0.33141	T	0.24	.	15.3248	0.74150	0.0:1.0:0.0:0.0	.	761;651;855	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	I	761;651;855;574	ENSP00000389031:T761I;ENSP00000358263:T651I;ENSP00000358262:T855I;ENSP00000355100:T574I	ENSP00000355100:T574I	T	+	2	0	CHD1L	145232772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.695000	0.74593	2.696000	0.92011	0.655000	0.94253	ACT		0.418	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		12	810	0	0	0	1	0	12	810				
ZNF883	169834	broad.mit.edu	37	9	115759981	115759981	+	lincRNA	SNP	G	G	A	rs543304301	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115759981G>A	ENST00000427548.1	-	0	1832							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAAACTTTCCGACATTGCTTA	0.418													G|||	2	0.000399361	0.0	0.0	5008	,	,		20803	0.002		0.0	False		,,,				2504	0.0					ENST00000427548.1																			0													zinc finger protein 883							84.0	85.0	85.0					9																	115759981		2164	4289	6453			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115759981G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759981G>A										P0CG24	ZN883_HUMAN			0	1832	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.418	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		23	268	0	0	0	1	0	23	268				
SAMD9L	219285	broad.mit.edu	37	7	92762815	92762815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762815C>A	ENST00000318238.4	-	5	3686	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	824					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATCCTTTTCTGCTAAAACG	0.378																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2470-2472)Gaa>Taa		sterile alpha motif domain containing 9-like							76.0	77.0	76.0					7																	92762815		2203	4299	6502	SO:0001587	stop_gained	219285							g.chr7:92762815C>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2470G>T	7.37:g.92762815C>A	ENSP00000326247:p.Glu824*					SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*	p.E824*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3686	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		824					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.2470G>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	45	11.488408	0.99567	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.67	1.81	0.25067	.	0.229546	0.35151	N	0.003407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-3.998	8.6694	0.34140	0.0:0.7387:0.0:0.2613	.	.	.	.	X	824	.	ENSP00000326247:E824X	E	-	1	0	SAMD9L	92600751	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	0.087000	0.14958	0.190000	0.20209	0.467000	0.42956	GAA		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		106	365	1	0	8.64784e-51	1	1.07212e-50	106	365				
ZNF831	128611	broad.mit.edu	37	20	57767471	57767471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767471C>T	ENST00000371030.2	+	1	1397	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	466							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTAGGAGGGCCCCGGGCCCC	0.662																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1396-1398)gCc>gTc		zinc finger protein 831							33.0	40.0	38.0					20																	57767471		2014	4164	6178	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767471C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1397C>T	20.37:g.57767471C>T	ENSP00000360069:p.Ala466Val						p.A466V	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1397	+	all_lung(29;0.0085)		466					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1397C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660601	0.29515	.	.	ENSG00000124203	ENST00000371030	T	0.05081	3.5	5.21	4.26	0.50523	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999999	B	0.34290	0.447	B	0.26864	0.074	T	0.39820	-0.9595	9	0.59425	D	0.04	-8.9091	12.7072	0.57067	0.0:0.9205:0.0:0.0795	.	466	Q5JPB2	ZN831_HUMAN	V	466	ENSP00000360069:A466V	ENSP00000360069:A466V	A	+	2	0	ZNF831	57200866	0.002000	0.14202	0.044000	0.18714	0.115000	0.19883	1.599000	0.36751	1.187000	0.43000	0.655000	0.94253	GCC		0.662	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		71	325	0	0	0	1	0	71	325				
CLIP3	25999	broad.mit.edu	37	19	36507083	36507083	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36507083G>A	ENST00000360535.4	-	14	1848	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	ALKBH6_ENST00000486389.1_5'Flank|ALKBH6_ENST00000485128.1_5'Flank|ALKBH6_ENST00000495116.2_5'Flank|ALKBH6_ENST00000252984.7_5'Flank|CLIP3_ENST00000593074.1_Silent_p.L541L|AC002116.8_ENST00000473572.2_RNA|AC002116.7_ENST00000586962.1_RNA|ALKBH6_ENST00000378875.3_5'Flank	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	541	GoLD.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGCCCTCAGCATCCAGGGG	0.607																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1621-1623)Ctg>Ttg		CAP-GLY domain containing linker protein 3							107.0	87.0	94.0					19																	36507083		2203	4300	6503	SO:0001819	synonymous_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36507083G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1621C>T	19.37:g.36507083G>A						AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.L541L	p.L541L	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		14	1848	-	Esophageal squamous(110;0.162)		541			GoLD.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	37	c.1621C>T	CCDS12486.1																																																																																				0.607	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		36	143	0	0	0	1	0	36	143				
ZNF462	58499	broad.mit.edu	37	9	109690160	109690160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109690160G>A	ENST00000277225.5	+	3	4256	c.3967G>A	c.(3967-3969)Gag>Aag	p.E1323K	ZNF462_ENST00000457913.1_Missense_Mutation_p.E1323K|ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1323					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCCCATACGGAGCCCAACGG	0.532																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3967-3969)Gag>Aag		zinc finger protein 462							129.0	117.0	121.0					9																	109690160		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690160G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3967G>A	9.37:g.109690160G>A	ENSP00000277225:p.Glu1323Lys					ZNF462_ENST00000457913.1_Missense_Mutation_p.E1323K|ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K	p.E1323K			Q96JM2	ZN462_HUMAN			3	4256	+			1323					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3967G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160685	0.94727	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06218	3.33;3.74;3.89;3.9	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	N	0.19112	0.55	0.80722	D	1	P;B	0.46277	0.875;0.351	P;B	0.50405	0.64;0.277	T	0.13953	-1.0490	10	0.52906	T	0.07	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	1323;1323	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1323;1323;206;168	ENSP00000277225:E1323K;ENSP00000414570:E1323K;ENSP00000363818:E206K;ENSP00000397306:E168K	ENSP00000277225:E1323K	E	+	1	0	ZNF462	108729981	1.000000	0.71417	0.946000	0.38457	0.842000	0.47809	9.397000	0.97276	2.509000	0.84616	0.561000	0.74099	GAG		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		11	607	0	0	0	1	0	11	607				
STRN4	29888	broad.mit.edu	37	19	47232005	47232005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232005C>T	ENST00000263280.6	-	7	958	c.909G>A	c.(907-909)atG>atA	p.M303I	STRN4_ENST00000391910.3_Missense_Mutation_p.M303I|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I|STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	303						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCGTCTTCCATTTCGGGCA	0.577																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(907-909)atG>atA		striatin, calmodulin binding protein 4							94.0	90.0	91.0					19																	47232005		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47232005C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.909G>A	19.37:g.47232005C>T	ENSP00000263280:p.Met303Ile					STRN4_ENST00000263280.6_Missense_Mutation_p.M303I|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I	p.M303I			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1359	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	303					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.909G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507207	0.44558	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.63096	-0.02;-0.02;0.1	4.64	2.47	0.30058	.	0.375150	0.27936	N	0.017251	T	0.32556	0.0833	N	0.02539	-0.55	0.35125	D	0.76744	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.20207	-1.0282	10	0.37606	T	0.19	-11.0569	8.5626	0.33520	0.0:0.8136:0.0:0.1864	.	303;303	F8VYA6;Q9NRL3	.;STRN4_HUMAN	I	303;303;184;184	ENSP00000375777:M303I;ENSP00000263280:M303I;ENSP00000440901:M184I	ENSP00000263280:M303I	M	-	3	0	STRN4	51923845	1.000000	0.71417	0.974000	0.42286	0.835000	0.47333	1.872000	0.39549	0.561000	0.29186	0.561000	0.74099	ATG		0.577	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			88	429	0	0	0	1	0	88	429				
ZIM3	114026	broad.mit.edu	37	19	57646919	57646919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646919C>T	ENST00000269834.1	-	5	1171	c.786G>A	c.(784-786)tgG>tgA	p.W262*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGATGATTTCCAGGAAAAGG	0.373																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(784-786)tgG>tgA		zinc finger, imprinted 3							119.0	117.0	118.0					19																	57646919		2203	4300	6503	SO:0001587	stop_gained	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646919C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.786G>A	19.37:g.57646919C>T	ENSP00000269834:p.Trp262*						p.W262*	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1171	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	262					Q14CA6	Nonsense_Mutation	SNP	ENST00000269834.1	37	c.786G>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389830	0.82902	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.53	-2.56	0.06268	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.3943	0.26927	0.0:0.2886:0.0:0.7114	.	.	.	.	X	262	.	ENSP00000269834:W262X	W	-	3	0	ZIM3	62338731	0.000000	0.05858	0.148000	0.22405	0.499000	0.33736	-2.059000	0.01393	-0.357000	0.08175	0.313000	0.20887	TGG		0.373	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			122	475	0	0	0	1	0	122	475				
LRRN4	164312	broad.mit.edu	37	20	6022592	6022592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022592C>T	ENST00000378858.4	-	5	1523	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	433					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAGTTGGTCGTGGAGGGGG	0.647																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1297-1299)acG>acA		leucine rich repeat neuronal 4							87.0	82.0	84.0					20																	6022592		2203	4300	6503	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6022592C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1299G>A	20.37:g.6022592C>T							p.T433T	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1523	-			433					A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.1299G>A	CCDS13097.1																																																																																				0.647	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		83	331	0	0	0	1	0	83	331				
SCN10A	6336	broad.mit.edu	37	3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCTGAGGATGCGGCCAATTCG	0.522																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4744-4746)cGc>cAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						92.0	90.0	91.0					3																	38739966		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739966C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4745G>A	3.37:g.38739966C>T	ENSP00000390600:p.Arg1582His						p.R1582H	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4744	-			1582					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4745G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806931	0.90623	.	.	ENSG00000185313	ENST00000449082	D	0.99591	-6.24	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97103	3.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.97217	0.9875	10	0.87932	D	0	.	19.406	0.94647	0.0:1.0:0.0:0.0	.	1582	Q9Y5Y9	SCNAA_HUMAN	H	1582	ENSP00000390600:R1582H	ENSP00000390600:R1582H	R	-	2	0	SCN10A	38714970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.822000	0.97130	0.655000	0.94253	CGC		0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		23	611	0	0	0	1	0	23	611				
FOXJ1	2302	broad.mit.edu	37	17	74133831	74133831	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74133831C>A	ENST00000322957.6	-	3	1223	c.869G>T	c.(868-870)aGc>aTc	p.S290I	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	290					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGCAGGGTGCTGGGGGGCCG	0.716																																						ENST00000322957.6																			0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(868-870)aGc>aTc		forkhead box J1							12.0	15.0	14.0					17																	74133831		2055	4066	6121	SO:0001583	missense	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74133831C>A	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.869G>T	17.37:g.74133831C>A	ENSP00000323880:p.Ser290Ile						p.S290I	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	1223	-			290					O00630	Missense_Mutation	SNP	ENST00000322957.6	37	c.869G>T	CCDS32739.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095997	0.56075	.	.	ENSG00000129654	ENST00000322957	D	0.94613	-3.47	4.96	3.97	0.46021	.	0.075688	0.85682	D	0.000000	D	0.94056	0.8095	M	0.63843	1.955	0.58432	D	0.999999	D	0.54207	0.965	P	0.50537	0.643	D	0.92911	0.6347	10	0.52906	T	0.07	.	10.4846	0.44713	0.0:0.7901:0.1345:0.0755	.	290	Q92949	FOXJ1_HUMAN	I	290	ENSP00000323880:S290I	ENSP00000323880:S290I	S	-	2	0	FOXJ1	71645426	0.998000	0.40836	0.999000	0.59377	0.478000	0.33099	1.148000	0.31614	1.044000	0.40200	0.462000	0.41574	AGC		0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		5	181	1	0	4.096e-09	1	4.30383e-09	5	181				
OPLAH	26873	broad.mit.edu	37	8	145111082	145111082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145111082G>A	ENST00000426825.1	-	15	2145	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	688					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGGCCCATGGAGCTTGTGCC	0.642																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2062-2064)ctC>ctT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						60.0	66.0	64.0					8																	145111082		2010	4165	6175	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145111082G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2064C>T	8.37:g.145111082G>A						OPLAH_ENST00000534424.1_5'UTR	p.L688L	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2145	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		688					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.2064C>T																																																																																					0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		60	299	0	0	0	1	0	60	299				
FAM169A	26049	broad.mit.edu	37	5	74091955	74091955	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74091955G>T	ENST00000389156.4	-	11	1250	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H	FAM169A_ENST00000510496.1_Missense_Mutation_p.P327H|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	387	Asp/Glu-rich.					membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCTCTGTTCAGGTTCTTCTTC	0.433																																						ENST00000389156.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.(1159-1161)cCt>cAt		family with sequence similarity 169, member A							175.0	160.0	165.0					5																	74091955		1925	4142	6067	SO:0001583	missense	26049							g.chr5:74091955G>T		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1160C>A	5.37:g.74091955G>T	ENSP00000373808:p.Pro387His					FAM169A_ENST00000510496.1_Missense_Mutation_p.P327H|FAM169A_ENST00000380515.3_3'UTR	p.P387H	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN			11	1250	-			387			Asp/Glu-rich.		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.1160C>A	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255043	0.22965	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.46063	0.88	5.91	3.1	0.35709	.	0.676716	0.14097	N	0.341650	T	0.31327	0.0793	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.26258	0.013;0.145	B;B	0.31442	0.013;0.13	T	0.33420	-0.9869	10	0.72032	D	0.01	-1.4944	4.4626	0.11673	0.0816:0.1453:0.5967:0.1764	.	327;387	D6RB01;Q9Y6X4	.;F169A_HUMAN	H	387;327	ENSP00000373808:P387H	ENSP00000373808:P387H	P	-	2	0	FAM169A	74127711	0.037000	0.19845	0.007000	0.13788	0.687000	0.40016	0.715000	0.25822	0.348000	0.23949	-0.165000	0.13383	CCT		0.433	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			24	595	1	0	5.35356e-11	1	5.69577e-11	24	595				
KCTD1	284252	broad.mit.edu	37	18	24039887	24039887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24039887G>A	ENST00000408011.3	-	4	871	c.312C>T	c.(310-312)gaC>gaT	p.D104D	KCTD1_ENST00000317932.7_Silent_p.D104D|KCTD1_ENST00000417602.1_Silent_p.D712D|KCTD1_ENST00000579973.1_Silent_p.D104D|KCTD1_ENST00000580059.1_Silent_p.D104D	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	104					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ACAAAGTGTAGTCCTGGAAAA	0.363																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(2134-2136)gaC>gaT		potassium channel tetramerization domain containing 1							65.0	67.0	67.0					18																	24039887		2203	4300	6503	SO:0001819	synonymous_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24039887G>A	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.312C>T	18.37:g.24039887G>A						KCTD1_ENST00000408011.3_Silent_p.D104D|KCTD1_ENST00000580059.1_Silent_p.D104D|KCTD1_ENST00000317932.7_Silent_p.D104D|KCTD1_ENST00000579973.1_Silent_p.D104D	p.D712D	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		4	2135	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		104					A8K1F5	Silent	SNP	ENST00000408011.3	37	c.2136C>T	CCDS11888.1																																																																																				0.363	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		15	571	0	0	0	1	0	15	571				
KIAA0586	9786	broad.mit.edu	37	14	58953763	58953763	+	Silent	SNP	G	G	A	rs369590767		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58953763G>A	ENST00000556134.1	+	23	3412	c.3138G>A	c.(3136-3138)acG>acA	p.T1046T	KIAA0586_ENST00000261244.5_Silent_p.T985T|KIAA0586_ENST00000354386.6_Silent_p.T1114T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Silent_p.T1017T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1046					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACAGCCTACGCCTCCTTGCT	0.413																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3049-3051)acG>acA		KIAA0586		G		0,3834		0,0,1917	99.0	95.0	96.0		2955	-2.6	1.0	14		96	2,8258		0,2,4128	no	coding-synonymous	KIAA0586	NM_014749.3		0,2,6045	AA,AG,GG		0.0242,0.0,0.0165		985/1473	58953763	2,12092	1917	4130	6047	SO:0001819	synonymous_variant	9786							g.chr14:58953763G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3138G>A	14.37:g.58953763G>A						KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Silent_p.T1046T|KIAA0586_ENST00000261244.5_Silent_p.T985T|KIAA0586_ENST00000354386.6_Silent_p.T1114T	p.T1017T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			23	3309	+			985					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	c.3051G>A	CCDS58321.1																																																																																				0.413	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		13	382	0	0	0	1	0	13	382				
DCAF8L1	139425	broad.mit.edu	37	X	27998727	27998727	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:27998727A>G	ENST00000441525.1	-	1	839	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	242								p.V242G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGCCTGGATGACATTAATATC	0.488																																						ENST00000441525.1																			1	Substitution - Missense(1)	p.V242G(1)	endometrium(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(724-726)gTc>gCc		DDB1 and CUL4 associated factor 8-like 1							71.0	63.0	66.0					X																	27998727		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998727A>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.725T>C	X.37:g.27998727A>G	ENSP00000405222:p.Val242Ala						p.V242A	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	839	-			242					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.725T>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504791	0.44558	.	.	ENSG00000226372	ENST00000441525	D	0.88741	-2.42	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070917	0.56097	D	0.000032	D	0.91061	0.7187	M	0.91196	3.185	0.40817	D	0.983474	P	0.50943	0.94	P	0.49853	0.624	D	0.89265	0.3600	10	0.87932	D	0	-7.6917	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	242	A6NGE4	DC8L1_HUMAN	A	242	ENSP00000405222:V242A	ENSP00000405222:V242A	V	-	2	0	DCAF8L1	27908648	1.000000	0.71417	0.137000	0.22149	0.019000	0.09904	3.817000	0.55668	0.571000	0.29365	0.235000	0.17854	GTC		0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		49	208	0	0	0	1	0	49	208				
ROBO4	54538	broad.mit.edu	37	11	124765468	124765468	+	Silent	SNP	G	G	A	rs534292971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000533054.1_Silent_p.S162S|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	307	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S307S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGCTCTGCGCTCTGCCAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14922	0.0		0.0	False		,,,				2504	0.001					ENST00000306534.3																			1	Substitution - coding silent(1)	p.S307S(1)	large_intestine(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(919-921)agC>agT		roundabout, axon guidance receptor, homolog 4 (Drosophila)							33.0	41.0	38.0					11																	124765468		2199	4291	6490	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765468G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.921C>T	11.37:g.124765468G>A						ROBO4_ENST00000533054.1_Silent_p.S162S	p.S307S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1406	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	307			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.921C>T	CCDS8455.1																																																																																				0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		26	496	0	0	0	1	0	26	496				
E2F4	1874	broad.mit.edu	37	16	67233304	67233304	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233304C>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Silent_p.D78D|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Silent_p.D78D|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TCCAGCTGGACCAGGTCACCC	0.716																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(232-234)gaC>gaT		engulfment and cell motility 3							28.0	34.0	32.0					16																	67233304		2061	4184	6245	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233304C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233304C>T						ELMO3_ENST00000360833.1_Silent_p.D78D	p.D78D	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	291	+		Ovarian(137;0.0563)	25					A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	37	c.234C>T	CCDS32464.1																																																																																				0.716	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		40	345	0	0	0	1	0	40	345				
SEC23A	10484	broad.mit.edu	37	14	39510075	39510075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39510075C>T	ENST00000307712.6	-	18	2520	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	SEC23A_ENST00000537403.1_Missense_Mutation_p.R466Q|SEC23A_ENST00000545328.2_Missense_Mutation_p.R639Q|SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	668					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)|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)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCTGACTTCCGCCACTGTGC	0.373																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1396-1398)cGg>cAg		Sec23 homolog A (S. cerevisiae)							60.0	54.0	56.0					14																	39510075		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39510075C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.2003G>A	14.37:g.39510075C>T	ENSP00000306881:p.Arg668Gln					SEC23A_ENST00000545328.2_Missense_Mutation_p.R639Q|SEC23A_ENST00000307712.6_Missense_Mutation_p.R668Q|SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q	p.R466Q			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	14	2599	-	Hepatocellular(127;0.213)		668					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.1397G>A	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012533	0.75161	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.75	5.75	0.90469	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	H	0.94462	3.54	0.80722	D	1	B;B;B	0.26147	0.143;0.105;0.078	B;B;B	0.27380	0.065;0.077;0.079	T	0.69950	-0.5006	10	0.66056	D	0.02	-14.0486	13.1859	0.59680	0.0:0.9274:0.0:0.0726	.	639;566;668	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	Q	466;668;566;639	ENSP00000444193:R466Q;ENSP00000306881:R668Q;ENSP00000437715:R566Q;ENSP00000445393:R639Q	ENSP00000306881:R668Q	R	-	2	0	SEC23A	38579826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.846000	0.62860	2.719000	0.93026	0.655000	0.94253	CGG		0.373	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			51	157	0	0	0	1	0	51	157				
CNTNAP5	129684	broad.mit.edu	37	2	125555694	125555694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125555694C>A	ENST00000431078.1	+	19	3375	c.3011C>A	c.(3010-3012)gCt>gAt	p.A1004D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1004					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTTTTGAGGCTGGCACGTCG	0.428																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3010-3012)gCt>gAt		contactin associated protein-like 5							68.0	65.0	66.0					2																	125555694		1909	4114	6023	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555694C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3011C>A	2.37:g.125555694C>A	ENSP00000399013:p.Ala1004Asp						p.A1004D	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	19	3375	+			1004					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3011C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427269	0.25726	.	.	ENSG00000155052	ENST00000431078	T	0.78364	-1.17	5.93	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.132089	0.33364	N	0.004998	T	0.61540	0.2355	N	0.21194	0.64	0.09310	N	1	B	0.33583	0.418	B	0.24006	0.05	T	0.53322	-0.8455	10	0.45353	T	0.12	.	11.7401	0.51788	0.0:0.8584:0.0:0.1416	.	1004	Q8WYK1	CNTP5_HUMAN	D	1004	ENSP00000399013:A1004D	ENSP00000399013:A1004D	A	+	2	0	CNTNAP5	125272164	0.057000	0.20700	0.739000	0.30968	0.641000	0.38312	0.819000	0.27308	0.851000	0.35264	-0.136000	0.14681	GCT		0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			31	86	1	0	3.1745e-13	1	3.424e-13	31	86				
CDKAL1	54901	broad.mit.edu	37	6	20546630	20546630	+	Missense_Mutation	SNP	G	G	A	rs560146971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20546630G>A	ENST00000378610.1	+	1	59	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CDKAL1_ENST00000378624.4_5'UTR|CDKAL1_ENST00000274695.4_Missense_Mutation_p.V17M			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	17					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CGAAGATATCGTGTCTCAGGA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18064	0.0		0.0	False		,,,				2504	0.0					ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(49-51)Gtg>Atg		CDK5 regulatory subunit associated protein 1-like 1							126.0	120.0	122.0					6																	20546630		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20546630G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.49G>A	6.37:g.20546630G>A	ENSP00000367873:p.Val17Met					CDKAL1_ENST00000378610.1_Missense_Mutation_p.V17M|CDKAL1_ENST00000378624.4_5'UTR	p.V17M	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		3	216	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		17					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.49G>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137874	0.56936	.	.	ENSG00000145996	ENST00000274695;ENST00000378610	T;T	0.47528	0.84;0.84	5.5	4.62	0.57501	.	0.064498	0.64402	D	0.000009	T	0.47710	0.1460	M	0.67397	2.05	0.80722	D	1	P;D	0.54397	0.936;0.966	P;P	0.52672	0.528;0.706	T	0.55412	-0.8145	10	0.66056	D	0.02	.	13.5669	0.61824	0.0751:0.0:0.9249:0.0	.	17;17	Q5VV42;Q5VV42-3	CDKAL_HUMAN;.	M	17	ENSP00000274695:V17M;ENSP00000367873:V17M	ENSP00000274695:V17M	V	+	1	0	CDKAL1	20654609	1.000000	0.71417	0.946000	0.38457	0.293000	0.27360	3.994000	0.56994	1.529000	0.49120	0.655000	0.94253	GTG		0.368	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		82	321	0	0	0	1	0	82	321				
ABCA7	10347	broad.mit.edu	37	19	1042089	1042089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1042089G>A	ENST00000263094.6	+	5	560	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	110					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGATGCCCGCACTGTGCTG	0.726																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(328-330)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 7							8.0	9.0	9.0					19																	1042089		2145	4197	6342	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042089G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.329G>A	19.37:g.1042089G>A	ENSP00000263094:p.Arg110His					ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H	p.R110H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	560	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	110					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.329G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784331	0.31593	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	3.47	-6.85	0.01681	.	.	.	.	.	T	0.27765	0.0683	N	0.20986	0.625	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.15752	-1.0426	9	0.39692	T	0.17	.	1.6592	0.02787	0.4479:0.1362:0.2784:0.1375	.	110;110	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	H	110;110;108;110	ENSP00000263094:R110H;ENSP00000431473:R110H;ENSP00000433545:R108H;ENSP00000414062:R110H	ENSP00000263094:R110H	R	+	2	0	ABCA7	993089	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.244000	0.02902	-1.205000	0.02645	-1.157000	0.01802	CGC		0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		17	97	0	0	0	1	0	17	97				
BCL3	602	broad.mit.edu	37	19	45262730	45262730	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45262730C>A	ENST00000164227.5	+	9	1467	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CAGTCTCCCCCCAGGGACCCC	0.627			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1222-1224)cCc>cAc		B-cell CLL/lymphoma 3							193.0	207.0	202.0					19																	45262730		2203	4300	6503	SO:0001583	missense	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262730C>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1223C>A	19.37:g.45262730C>A	ENSP00000164227:p.Pro408His						p.P408H	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1467	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	408			Pro/Ser-rich.			Missense_Mutation	SNP	ENST00000164227.5	37	c.1223C>A	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650273	0.47362	.	.	ENSG00000069399	ENST00000164227	T	0.41758	0.99	4.5	3.46	0.39613	.	0.284212	0.25344	N	0.031353	T	0.31482	0.0798	L	0.27053	0.805	0.28683	N	0.904996	P	0.45283	0.855	B	0.43536	0.423	T	0.21655	-1.0239	10	0.66056	D	0.02	-0.612	9.4966	0.38993	0.0:0.8948:0.0:0.1052	.	408	P20749	BCL3_HUMAN	H	408	ENSP00000164227:P408H	ENSP00000164227:P408H	P	+	2	0	BCL3	49954570	0.972000	0.33761	0.991000	0.47740	0.913000	0.54294	1.116000	0.31221	2.022000	0.59522	0.491000	0.48974	CCC		0.627	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		84	2137	1	0	3.33393e-15	1	3.63836e-15	84	2137				
ITIH2	3698	broad.mit.edu	37	10	7788631	7788631	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7788631G>T	ENST00000358415.4	+	20	2823	c.2657G>T	c.(2656-2658)aGc>aTc	p.S886I	ITIH2_ENST00000379587.4_Missense_Mutation_p.S875I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	886					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAGAGGCCAGCATGGAAGTG	0.498																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2656-2658)aGc>aTc		inter-alpha-trypsin inhibitor heavy chain 2							90.0	76.0	81.0					10																	7788631		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7788631G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2657G>T	10.37:g.7788631G>T	ENSP00000351190:p.Ser886Ile					ITIH2_ENST00000379587.4_Missense_Mutation_p.S875I	p.S886I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			20	2823	+			886					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2657G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835992	0.32421	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.10288	2.89;2.89	5.27	2.32	0.28847	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.313882	0.37955	N	0.001869	T	0.08935	0.0221	L	0.54323	1.7	0.29012	N	0.886794	B	0.06786	0.001	B	0.14023	0.01	T	0.22347	-1.0219	10	0.39692	T	0.17	-10.9131	1.7834	0.03036	0.1497:0.2218:0.387:0.2414	.	886	P19823	ITIH2_HUMAN	I	886;875	ENSP00000351190:S886I;ENSP00000368906:S875I	ENSP00000351190:S886I	S	+	2	0	ITIH2	7828637	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	1.436000	0.34980	0.271000	0.22005	0.655000	0.94253	AGC		0.498	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		6	133	1	0	2.0095e-06	1	2.07161e-06	6	133				
FBXO7	25793	broad.mit.edu	37	22	32894330	32894330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32894330T>C	ENST00000266087.7	+	9	1709	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T|FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	461	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGACCCAATCAGTTCACTC	0.552																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1381-1383)aTc>aCc		F-box protein 7							113.0	104.0	107.0					22																	32894330		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894330T>C	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1382T>C	22.37:g.32894330T>C	ENSP00000266087:p.Ile461Thr					FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T|FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T	p.I461T	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			9	1709	+			461					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1382T>C	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620332	0.46736	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.73258	-0.73;-0.18;-0.16	5.93	5.93	0.95920	.	0.358855	0.29558	N	0.011814	T	0.69260	0.3091	M	0.66939	2.045	0.35874	D	0.828461	B;B;B	0.29862	0.165;0.259;0.165	B;B;B	0.22753	0.027;0.041;0.027	T	0.74996	-0.3473	10	0.54805	T	0.06	-4.8952	16.3798	0.83452	0.0:0.0:0.0:1.0	.	461;382;461	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	T	461;382;347	ENSP00000266087:I461T;ENSP00000371490:I382T;ENSP00000380571:I347T	ENSP00000266087:I461T	I	+	2	0	FBXO7	31224330	.	.	0.064000	0.19789	0.984000	0.73092	.	.	2.271000	0.75665	0.533000	0.62120	ATC		0.552	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			104	442	0	0	0	1	0	104	442				
C9orf117	286207	broad.mit.edu	37	9	130474155	130474155	+	Silent	SNP	C	C	T	rs191601743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130474155C>T	ENST00000373295.2	+	5	952	c.912C>T	c.(910-912)gcC>gcT	p.A304A	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	304										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCAAGGAGGCCGAGGAGCTGC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18821	0.0		0.0	False		,,,				2504	0.0					ENST00000373295.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(910-912)gcC>gcT		chromosome 9 open reading frame 117							16.0	20.0	18.0					9																	130474155		2159	4260	6419	SO:0001819	synonymous_variant	286207							g.chr9:130474155C>T	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.912C>T	9.37:g.130474155C>T							p.A304A	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN			5	952	+			304					A5D8T9	Silent	SNP	ENST00000373295.2	37	c.912C>T	CCDS43878.1																																																																																				0.642	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		12	37	0	0	0	1	0	12	37				
APAF1	317	broad.mit.edu	37	12	99074166	99074166	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99074166G>A	ENST00000551964.1	+	14	2768	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	APAF1_ENST00000547045.1_Missense_Mutation_p.D678N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000357310.1_Missense_Mutation_p.D678N|APAF1_ENST00000333991.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	678					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTGCTCAGTGGATAAAAAAGT	0.363																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(2032-2034)Gat>Aat		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						80.0	81.0	81.0					12																	99074166		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99074166G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2032G>A	12.37:g.99074166G>A	ENSP00000448165:p.Asp678Asn					APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000551964.1_Missense_Mutation_p.D678N|APAF1_ENST00000547045.1_Missense_Mutation_p.D678N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000333991.1_Intron	p.D678N	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			14	2609	+			678					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.2032G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248336	0.95305	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.045251	0.85682	D	0.000000	D	0.95433	0.8517	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.996	D	0.95804	0.8835	10	0.87932	D	0	-8.12	19.3764	0.94512	0.0:0.0:1.0:0.0	.	678;678;667;678;667	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	678;667;678;678;667;678;678	ENSP00000448165:D678N;ENSP00000353059:D667N;ENSP00000349862:D678N;ENSP00000341830:D678N;ENSP00000448449:D667N;ENSP00000449791:D678N;ENSP00000448161:D678N	ENSP00000341830:D678N	D	+	1	0	APAF1	97598297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.410000	0.97335	2.582000	0.87167	0.591000	0.81541	GAT		0.363	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		27	124	0	0	0	1	0	27	124				
CYP4X1	260293	broad.mit.edu	37	1	47495763	47495763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47495763C>T	ENST00000371901.3	+	2	529	c.279C>T	c.(277-279)atC>atT	p.I93I	CYP4X1_ENST00000538609.1_Silent_p.I92I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	93						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTTTCTGTATCTATGACCCAG	0.433																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(277-279)atC>atT		cytochrome P450, family 4, subfamily X, polypeptide 1							114.0	120.0	118.0					1																	47495763		2203	4300	6503	SO:0001819	synonymous_variant	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47495763C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.279C>T	1.37:g.47495763C>T						CYP4X1_ENST00000538609.1_Silent_p.I92I	p.I93I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			2	529	+			93					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	37	c.279C>T	CCDS544.1																																																																																				0.433	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		56	450	0	0	0	1	0	56	450				
IGHG4	3503	broad.mit.edu	37	14	106090978	106090978	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106090978G>A	ENST00000390543.2	-	0	818							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGGAGGCGTGGTCTTGTAGT	0.607																																						ENST00000390543.2																			0																				182.0	264.0	237.0					14																	106090978		2026	4182	6208			0							g.chr14:106090978G>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090978G>A														0	818	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.607	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		40	1930	0	0	0	1	0	40	1930				
PCDHB8	56128	broad.mit.edu	37	5	140559326	140559326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559326G>A	ENST00000239444.2	+	1	1956	c.1711G>A	c.(1711-1713)Gcg>Acg	p.A571T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	571	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGGCTCCGCGCCCTGCAC	0.716																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1711-1713)Gcg>Acg									12.0	21.0	18.0					5																	140559326		2174	4257	6431	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559326G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1711G>A	5.37:g.140559326G>A	ENSP00000239444:p.Ala571Thr						p.A571T	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1956	+			571			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1711G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558443	0.27827	.	.	ENSG00000120322	ENST00000239444	T	0.60797	0.16	4.22	2.2	0.27929	Cadherin-like (1);	.	.	.	.	T	0.42607	0.1210	N	0.21324	0.655	0.09310	N	1	B	0.30211	0.273	B	0.31751	0.135	T	0.38824	-0.9643	9	0.66056	D	0.02	.	8.146	0.31113	0.0:0.1345:0.4702:0.3953	.	571	Q9UN66	PCDB8_HUMAN	T	571	ENSP00000239444:A571T	ENSP00000239444:A571T	A	+	1	0	PCDHB8	140539510	0.000000	0.05858	0.557000	0.28306	0.601000	0.36947	-0.187000	0.09656	0.735000	0.32537	0.298000	0.19748	GCG		0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		76	643	0	0	0	1	0	76	643				
LPAR1	1902	broad.mit.edu	37	9	113704334	113704334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704334C>A	ENST00000374431.3	-	4	543	c.160G>T	c.(160-162)Gga>Tga	p.G54*	LPAR1_ENST00000541779.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.G54*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.G54*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	54					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATTCCAAGTCCCATCACCAGC	0.443																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(160-162)Gga>Tga		lysophosphatidic acid receptor 1							119.0	105.0	110.0					9																	113704334		2203	4300	6503	SO:0001587	stop_gained	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704334C>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.160G>T	9.37:g.113704334C>A	ENSP00000363553:p.Gly54*					LPAR1_ENST00000374430.2_Nonsense_Mutation_p.G54*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.G54*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.G55*	p.G54*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	543	-			54					B4DK36|O00656|O00722|P78351	Nonsense_Mutation	SNP	ENST00000374431.3	37	c.160G>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	38	6.926339	0.97940	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	.	.	.	5.36	5.36	0.76844	.	0.100782	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	.	.	.	X	54;55;54;54;36;55;54	.	ENSP00000351755:G54X	G	-	1	0	LPAR1	112744155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.533000	0.85409	0.655000	0.94253	GGA		0.443	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		70	362	1	0	1.56214e-13	1	1.68846e-13	70	362				
SYT4	6860	broad.mit.edu	37	18	40853651	40853651	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853651A>C	ENST00000255224.3	-	2	1111	c.743T>G	c.(742-744)tTt>tGt	p.F248C	SYT4_ENST00000590752.1_Missense_Mutation_p.F230C|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	248	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATCTCTTGAAAACCTGTCAAA	0.368																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(742-744)tTt>tGt		synaptotagmin IV							69.0	70.0	70.0					18																	40853651		2202	4300	6502	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853651A>C	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.743T>G	18.37:g.40853651A>C	ENSP00000255224:p.Phe248Cys					SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.F230C	p.F248C	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	1111	-			248			C2 1.|Phospholipid binding (Probable).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.743T>G	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884436	0.72410	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.09817	2.94	5.72	5.72	0.89469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.54118	-0.8341	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	230;248	B4DEU3;Q9H2B2	.;SYT4_HUMAN	C	248;53	ENSP00000255224:F248C	ENSP00000255224:F248C	F	-	2	0	SYT4	39107649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.311000	0.77944	0.533000	0.62120	TTT		0.368	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		69	281	0	0	0	1	0	69	281				
MED11	400569	broad.mit.edu	37	17	4638392	4638392	+	IGR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4638392G>T	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Missense_Mutation_p.S257Y|CXCL16_ENST00000293778.6_Missense_Mutation_p.S257Y|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						TTTACCTGGAGAGGACTGCGG	0.607																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(769-771)tCt>tAt		chemokine (C-X-C motif) ligand 16							48.0	46.0	47.0					17																	4638392		2203	4300	6503	SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638392G>T	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638392G>T						CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Missense_Mutation_p.S257Y	p.S257Y	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			4	1192	-			238					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.770C>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735474	0.49045	.	.	ENSG00000161921	ENST00000293778	T	0.38077	1.16	5.27	-0.368	0.12537	.	1.442270	0.03990	N	0.294642	T	0.28167	0.0695	L	0.39898	1.24	0.09310	N	1	B	0.23249	0.082	B	0.24269	0.052	T	0.28713	-1.0035	10	0.62326	D	0.03	0.0403	1.5006	0.02476	0.2539:0.1429:0.4562:0.147	.	238	Q9H2A7	CXL16_HUMAN	Y	257	ENSP00000293778:S257Y	ENSP00000293778:S257Y	S	-	2	0	CXCL16	4585141	0.000000	0.05858	0.001000	0.08648	0.824000	0.46624	-0.298000	0.08265	-0.166000	0.10890	0.561000	0.74099	TCT		0.607	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		7	249	1	0	0.27861	1	0.278732	7	249				
UBA7	7318	broad.mit.edu	37	3	49850508	49850508	+	Missense_Mutation	SNP	G	G	A	rs148849452	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49850508G>A	ENST00000333486.3	-	4	612	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	152	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGAGGCCCCGGGTGTCAGCC	0.602																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(454-456)Cgg>Tgg		ubiquitin-like modifier activating enzyme 7		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	53.0	54.0		454	2.1	1.0	3	dbSNP_134	54	0,8600		0,0,4300	yes	missense	UBA7	NM_003335.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	152/1013	49850508	1,13005	2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49850508G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.454C>T	3.37:g.49850508G>A	ENSP00000333266:p.Arg152Trp					UBA7_ENST00000494212.1_5'UTR	p.R152W	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	612	-			152			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.454C>T	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943843	0.18281	2.27E-4	0.0	ENSG00000182179	ENST00000333486	T	0.37058	1.22	5.04	2.09	0.27110	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.323101	0.31949	N	0.006812	T	0.25269	0.0614	L	0.50333	1.59	0.49798	D	0.999828	B	0.32507	0.373	B	0.25614	0.062	T	0.06499	-1.0823	10	0.51188	T	0.08	-17.4254	4.8768	0.13660	0.1784:0.0:0.5355:0.2861	.	152	P41226	UBA7_HUMAN	W	152	ENSP00000333266:R152W	ENSP00000333266:R152W	R	-	1	2	UBA7	49825512	0.003000	0.15002	0.964000	0.40570	0.036000	0.12997	0.691000	0.25467	0.648000	0.30732	-0.448000	0.05591	CGG		0.602	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		31	169	0	0	0	1	0	31	169				
AAAS	8086	broad.mit.edu	37	12	53708104	53708104	+	Missense_Mutation	SNP	C	C	T	rs141013947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53708104C>T	ENST00000209873.4	-	7	832	c.667G>A	c.(667-669)Gac>Aac	p.D223N	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N|AAAS_ENST00000550286.1_Missense_Mutation_p.D99N	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	223					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAGGTAGGGTCCAGGGTCCAG	0.582																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(667-669)Gac>Aac		achalasia, adrenocortical insufficiency, alacrimia							148.0	139.0	142.0					12																	53708104		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53708104C>T	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.667G>A	12.37:g.53708104C>T	ENSP00000209873:p.Asp223Asn					AAAS_ENST00000550286.1_Missense_Mutation_p.D99N|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N|AAAS_ENST00000549983.1_5'UTR	p.D223N	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			7	832	-			223					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.667G>A	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267049	0.95399	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.96073	-3.9;-3.89;-3.9;-0.01	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96428	0.9317	10	0.44086	T	0.13	-24.581	16.5538	0.84479	0.0:1.0:0.0:0.0	.	190;223	Q5JB47;Q9NRG9	.;AAAS_HUMAN	N	223;190;99;190	ENSP00000209873:D223N;ENSP00000377908:D190N;ENSP00000446885:D99N;ENSP00000448020:D190N	ENSP00000209873:D223N	D	-	1	0	AAAS	51994371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.094000	0.76944	2.859000	0.98148	0.591000	0.81541	GAC		0.582	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			108	633	0	0	0	1	0	108	633				
RBM48	84060	broad.mit.edu	37	7	92164347	92164347	+	Intron	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92164347T>G	ENST00000265732.5	+	4	1058				RBM48_ENST00000481551.1_Missense_Mutation_p.I360M	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48							nucleus (GO:0005634)	RNA binding (GO:0003723)										AATGGAGAATTATTTGTGGGA	0.284																																						ENST00000481551.1																			0											c.(1078-1080)atT>atG		RNA binding motif protein 48																																				SO:0001627	intron_variant	84060						nucleotide binding	g.chr7:92164347T>G	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.1017+63T>G	7.37:g.92164347T>G						RBM48_ENST00000265732.5_Intron	p.I360M			Q5RL73	CG064_HUMAN			4	1121	+			0					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.1080T>G	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889644	0.33348	.	.	ENSG00000127993	ENST00000481551	.	.	.	4.11	-2.87	0.05700	.	.	.	.	.	T	0.14442	0.0349	.	.	.	0.09310	N	1	P	0.40476	0.718	B	0.37015	0.239	T	0.13548	-1.0505	6	.	.	.	-0.0283	1.0962	0.01674	0.2506:0.337:0.1279:0.2845	.	360	B7Z2K5	.	M	360	.	.	I	+	3	3	C7orf64	92002283	0.206000	0.23470	0.006000	0.13384	0.217000	0.24651	0.181000	0.16880	-0.415000	0.07484	0.374000	0.22700	ATT		0.284	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		16	54	0	0	0	1	0	16	54				
MCOLN3	55283	broad.mit.edu	37	1	85487850	85487850	+	Missense_Mutation	SNP	G	G	A	rs141743037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85487850G>A	ENST00000370589.2	-	11	1275	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	408					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATTGGGCAGCGCTGCCTGAAG	0.468																																						ENST00000370589.2																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(1222-1224)gCg>gTg		mucolipin 3		G	VAL/ALA	0,4406		0,0,2203	87.0	84.0	85.0		1223	5.5	0.9	1	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MCOLN3	NM_018298.9	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	408/554	85487850	2,13004	2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85487850G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1223C>T	1.37:g.85487850G>A	ENSP00000359621:p.Ala408Val					WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V	p.A408V	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	11	1275	-			408					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1223C>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503460	0.85176	0.0	2.33E-4	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.77098	-1.07;-1.07	5.52	5.52	0.82312	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.88511	0.6456	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.958;0.982	D	0.88817	0.3296	10	0.52906	T	0.07	-20.4113	19.4397	0.94813	0.0:0.0:1.0:0.0	.	352;408	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	V	408;408;352;352	ENSP00000359621:A408V;ENSP00000342698:A352V	ENSP00000304843:A408V	A	-	2	0	MCOLN3	85260438	1.000000	0.71417	0.933000	0.37362	0.497000	0.33675	9.415000	0.97375	2.578000	0.87016	0.563000	0.77884	GCG		0.468	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		36	258	0	0	0	1	0	36	258				
VHLL	391104	broad.mit.edu	37	1	156268967	156268967	+	Missense_Mutation	SNP	G	G	A	rs372668299		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156268967G>A	ENST00000339922.3	-	1	461	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCGTTCCCCGCTCTCCAGGG	0.602																																						ENST00000339922.3																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(13-15)gCg>gTg		von Hippel-Lindau tumor suppressor-like		G	VAL/ALA	2,4400		0,2,2199	39.0	44.0	42.0		14	0.4	0.0	1		42	1,8595		0,1,4297	no	missense	VHLL	NM_001004319.2	64	0,3,6496	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	5/140	156268967	3,12995	2201	4298	6499	SO:0001583	missense	391104				protein ubiquitination	nucleus		g.chr1:156268967G>A			1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.14C>T	1.37:g.156268967G>A	ENSP00000464258:p.Ala5Val						p.A5V	NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN			1	461	-	Hepatocellular(266;0.158)		5					A1L4M4	Missense_Mutation	SNP	ENST00000339922.3	37	c.14C>T																																																																																					0.602	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		148	398	0	0	0	1	0	148	398				
DGCR8	54487	broad.mit.edu	37	22	20074812	20074812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20074812C>T	ENST00000351989.3	+	3	1277	c.848C>T	c.(847-849)cCg>cTg	p.P283L	DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	283	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGTGCAGCCGATGATGACC	0.527																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(847-849)cCg>cTg		DGCR8 microprocessor complex subunit							148.0	111.0	124.0					22																	20074812		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074812C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.848C>T	22.37:g.20074812C>T	ENSP00000263209:p.Pro283Leu					DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L	p.P283L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			3	1277	+	Colorectal(54;0.0993)		283			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.848C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604141	0.96626	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.54071	0.73;0.59;0.59	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.57009	0.811;0.652	T	0.71130	-0.4682	10	0.87932	D	0	-6.7014	20.1743	0.98175	0.0:1.0:0.0:0.0	.	283;283	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	283	ENSP00000263209:P283L;ENSP00000372488:P283L;ENSP00000384726:P283L	ENSP00000263209:P283L	P	+	2	0	DGCR8	18454812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.873000	0.98535	0.561000	0.74099	CCG		0.527	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			50	247	0	0	0	1	0	50	247				
KDM2A	22992	broad.mit.edu	37	11	66975059	66975059	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66975059A>G	ENST00000529006.2	+	6	832	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	129					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGGACACGCTACTATGAGACC	0.517																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(385-387)tAc>tGc		lysine (K)-specific demethylase 2A							64.0	69.0	68.0					11																	66975059		2034	4198	6232	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66975059A>G	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.386A>G	11.37:g.66975059A>G	ENSP00000432786:p.Tyr129Cys					KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	p.Y129C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			6	832	+			129					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.386A>G	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511494	0.85389	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.73681	-0.77;-0.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91219	0.5005	10	0.87932	D	0	-12.3265	14.5521	0.68073	1.0:0.0:0.0:0.0	.	129	Q9Y2K7	KDM2A_HUMAN	C	129	ENSP00000381640:Y129C;ENSP00000432786:Y129C	ENSP00000381640:Y129C	Y	+	2	0	KDM2A	66731635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.026000	0.59711	0.482000	0.46254	TAC		0.517	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		15	189	0	0	0	1	0	15	189				
DUS3L	56931	broad.mit.edu	37	19	5786851	5786851	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5786851G>A	ENST00000309061.7	-	9	1491	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Silent_p.H223H|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	465							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGAGCGGCCGTGGAGCTGGG	0.642																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1393-1395)caC>caT		dihydrouridine synthase 3-like (S. cerevisiae)							17.0	22.0	20.0					19																	5786851		2198	4293	6491	SO:0001819	synonymous_variant	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5786851G>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1395C>T	19.37:g.5786851G>A						DUS3L_ENST00000320699.8_Silent_p.H223H	p.H465H	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			9	1491	-			465					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	37	c.1395C>T	CCDS32880.1																																																																																				0.642	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		20	74	0	0	0	1	0	20	74				
MUC16	94025	broad.mit.edu	37	19	8982221	8982221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8982221C>A	ENST00000397910.4	-	70	42257	c.42054G>T	c.(42052-42054)caG>caT	p.Q14018H	MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14043	SEA 13. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGGGTCTGCTGGCTCAGCT	0.622																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42052-42054)caG>caT		mucin 16, cell surface associated							52.0	56.0	54.0					19																	8982221		2031	4177	6208	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8982221C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42054G>T	19.37:g.8982221C>A	ENSP00000381008:p.Gln14018His					MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	p.Q14018H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			70	42257	-			14043	Missing (in Ref. 3; AAK74120).		SEA 13.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42054G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.472|8.472	0.857870|0.857870	0.17178|0.17178	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.47869|.	0.83;0.83|.	3.89|3.89	1.58|1.58	0.23477|0.23477	SEA (1);|.	2.222600|.	0.02344|.	N|.	0.075212|.	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.41415|0.41415	1.275|1.275	.|.	.|.	.|.	B;D|.	0.53312|.	0.016;0.959|.	B;D|.	0.67725|.	0.006;0.953|.	T|T	0.37033|0.37033	-0.9723|-0.9723	9|4	0.37606|.	T|.	0.19|.	.|.	3.9472|3.9472	0.09353|0.09353	0.226:0.6371:0.0:0.1369|0.226:0.6371:0.0:0.1369	.|.	21663;14018|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	H|I	14018;659|858	ENSP00000381008:Q14018H;ENSP00000370338:Q659H|.	ENSP00000370338:Q659H|.	Q|S	-|-	3|2	2|0	MUC16|MUC16	8843221|8843221	0.243000|0.243000	0.23878|0.23878	0.635000|0.635000	0.29338|0.29338	0.009000|0.009000	0.06853|0.06853	0.278000|0.278000	0.18753|0.18753	0.510000|0.510000	0.28216|0.28216	-0.291000|-0.291000	0.09656|0.09656	CAG|AGC		0.622	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	226	1	0	3.41278e-10	1	3.61262e-10	17	226				
RAE1	8480	broad.mit.edu	37	20	55949767	55949767	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55949767T>C	ENST00000395841.2	+	11	1350	c.930T>C	c.(928-930)acT>acC	p.T310T	RAE1_ENST00000527947.1_Silent_p.T310T|RAE1_ENST00000371242.2_Silent_p.T310T|RAE1_ENST00000395840.2_Silent_p.T310T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	310					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AACTAAAAACTTCGGAACAGT	0.453																																						ENST00000395841.2																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(928-930)acT>acC		ribonucleic acid export 1							149.0	136.0	140.0					20																	55949767		2203	4300	6503	SO:0001819	synonymous_variant	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55949767T>C	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.930T>C	20.37:g.55949767T>C						RAE1_ENST00000395840.2_Silent_p.T310T|RAE1_ENST00000371242.2_Silent_p.T310T|RAE1_ENST00000527947.1_Silent_p.T310T	p.T310T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		11	1350	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		310					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Silent	SNP	ENST00000395841.2	37	c.930T>C	CCDS13458.1																																																																																				0.453	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			15	614	0	0	0	1	0	15	614				
PDZD8	118987	broad.mit.edu	37	10	119134343	119134343	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119134343C>A	ENST00000334464.5	-	1	635	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	132					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCGTCTTGGTCTGCAGCAGCT	0.662																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(394-396)caG>caT		PDZ domain containing 8							29.0	37.0	34.0					10																	119134343		2200	4296	6496	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119134343C>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.396G>T	10.37:g.119134343C>A	ENSP00000334642:p.Gln132His						p.Q132H	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	1	635	-		Colorectal(252;0.19)	132					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.396G>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799060	0.90538	.	.	ENSG00000165650	ENST00000334464	D	0.86366	-2.11	4.44	4.44	0.53790	.	0.067759	0.64402	D	0.000010	D	0.92071	0.7487	L	0.57536	1.79	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.92922	0.6356	10	0.66056	D	0.02	-9.667	17.3371	0.87285	0.0:1.0:0.0:0.0	.	132	Q8NEN9	PDZD8_HUMAN	H	132	ENSP00000334642:Q132H	ENSP00000334642:Q132H	Q	-	3	2	PDZD8	119124333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.110000	0.57831	2.299000	0.77371	0.644000	0.83932	CAG		0.662	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		8	362	1	0	0.00307968	1	0.00310409	8	362				
FAM111A	63901	broad.mit.edu	37	11	58920677	58920677	+	Silent	SNP	C	C	T	rs201314346	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920677C>T	ENST00000528737.1	+	5	4354	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000420244.1_Silent_p.V512V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	512	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGAGTATGTCCATATGTATA	0.428																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1534-1536)gtC>gtT		family with sequence similarity 111, member A							94.0	97.0	96.0					11																	58920677		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920677C>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1536C>T	11.37:g.58920677C>T						FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000420244.1_Silent_p.V512V	p.V512V			Q96PZ2	F111A_HUMAN			5	4354	+		all_epithelial(135;0.139)	512					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.1536C>T	CCDS7973.1																																																																																				0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		108	471	0	0	0	1	0	108	471				
SASH1	23328	broad.mit.edu	37	6	148808758	148808758	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148808758A>G	ENST00000367467.3	+	8	1111	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	212					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCTCAAGGAATACGAGGCCC	0.483																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(634-636)gaA>gaG		SAM and SH3 domain containing 1							97.0	103.0	101.0					6																	148808758		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148808758A>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.636A>G	6.37:g.148808758A>G							p.E212E	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	8	1111	+		Ovarian(120;0.0169)	212					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.636A>G	CCDS5212.1																																																																																				0.483	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		105	534	0	0	0	1	0	105	534				
DNER	92737	broad.mit.edu	37	2	230231694	230231694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230231694C>T	ENST00000341772.4	-	12	2131	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	666					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GTATTCAATGCGGCTGATGCG	0.542																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1996-1998)cGc>cAc		delta/notch-like EGF repeat containing							59.0	51.0	54.0					2																	230231694		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230231694C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1997G>A	2.37:g.230231694C>T	ENSP00000345229:p.Arg666His						p.R666H	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	12	2131	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	666					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1997G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595384	0.96602	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86097	-2.07	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87291	0.2299	10	0.39692	T	0.17	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	666	Q8NFT8	DNER_HUMAN	H	666;384	ENSP00000345229:R666H	ENSP00000345229:R666H	R	-	2	0	DNER	229939938	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	CGC		0.542	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		21	221	0	0	0	1	0	21	221				
GJD4	219770	broad.mit.edu	37	10	35897020	35897020	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35897020G>T	ENST00000321660.1	+	2	737	c.579G>T	c.(577-579)gaG>gaT	p.E193D	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	193					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCCACAGAGAAGTCCCTGC	0.647																																						ENST00000321660.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(577-579)gaG>gaT		gap junction protein, delta 4, 40.1kDa							30.0	22.0	25.0					10																	35897020		2203	4299	6502	SO:0001583	missense	219770				cell communication	connexon complex|integral to membrane		g.chr10:35897020G>T	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.579G>T	10.37:g.35897020G>T	ENSP00000315070:p.Glu193Asp						p.E193D	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN			2	737	+			193					Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	c.579G>T	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870359	0.72065	.	.	ENSG00000177291	ENST00000321660	D	0.99186	-5.53	5.62	0.847	0.18961	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	H	0.96365	3.81	0.47584	D	0.999468	D	0.89917	1.0	D	0.87578	0.998	D	0.99727	1.1011	10	0.87932	D	0	.	10.5625	0.45154	0.3987:0.0:0.6013:0.0	.	193	Q96KN9	CXD4_HUMAN	D	193	ENSP00000315070:E193D	ENSP00000315070:E193D	E	+	3	2	GJD4	35937026	1.000000	0.71417	0.993000	0.49108	0.629000	0.37895	1.855000	0.39378	0.056000	0.16144	-0.469000	0.05056	GAG		0.647	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		16	135	1	0	3.32936e-07	1	3.45006e-07	16	135				
RPL3L	6123	broad.mit.edu	37	16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	rs149043671	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	249					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18625	0.0		0.0	False		,,,				2504	0.001					ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(745-747)cGc>cAc		ribosomal protein L3-like		C	HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	55.0	58.0	57.0		746	4.0	1.0	16	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RPL3L	NM_005061.2	29	0,5,6494	TT,TC,CC		0.0233,0.0682,0.0385	possibly-damaging	249/408	1997042	5,12993	2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1997042C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.746G>A	16.37:g.1997042C>T	ENSP00000268661:p.Arg249His						p.R249H	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			6	840	-			249						Missense_Mutation	SNP	ENST00000268661.7	37	c.746G>A	CCDS10450.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.65	3.182570	0.57800	6.82E-4	2.33E-4	ENSG00000140986	ENST00000268661	T	0.56611	0.45	4.92	3.97	0.46021	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.85301	0.1073	10	0.87932	D	0	-17.0973	12.5964	0.56472	0.0:0.9191:0.0:0.0809	.	249	Q92901	RL3L_HUMAN	H	249	ENSP00000268661:R249H	ENSP00000268661:R249H	R	-	2	0	RPL3L	1937043	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.729000	0.84864	1.195000	0.43115	-0.136000	0.14681	CGC		0.672	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		27	508	0	0	0	1	0	27	508				
FLNC	2318	broad.mit.edu	37	7	128489453	128489453	+	Missense_Mutation	SNP	G	G	A	rs374124083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489453G>A	ENST00000325888.8	+	30	5281	c.5020G>A	c.(5020-5022)Ggt>Agt	p.G1674S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1674					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGGCAGCCGGTGAGGGGAA	0.607																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5020-5022)Ggt>Agt		filamin C, gamma		G	SER/GLY,SER/GLY	0,4356		0,0,2178	81.0	92.0	88.0		5020,5020	4.5	1.0	7		88	1,8539		0,1,4269	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	56,56	0,1,6447	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	1674/2693,1674/2726	128489453	1,12895	2178	4270	6448	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489453G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5020G>A	7.37:g.128489453G>A	ENSP00000327145:p.Gly1674Ser					FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S	p.G1674S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			30	5281	+			1674					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5020G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844753	0.91197	0.0	1.17E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94184	-3.37;-3.37	5.41	4.51	0.55191	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.92367	3.3	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97636	1.0145	10	0.48119	T	0.1	.	16.0085	0.80380	0.0:0.1347:0.8653:0.0	.	1674;1674	Q14315-2;Q14315	.;FLNC_HUMAN	S	1674	ENSP00000327145:G1674S;ENSP00000344002:G1674S	ENSP00000327145:G1674S	G	+	1	0	FLNC	128276689	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	9.869000	0.99810	1.245000	0.43885	0.655000	0.94253	GGT		0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			47	232	0	0	0	1	0	47	232				
FOSL2	2355	broad.mit.edu	37	2	28635000	28635000	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28635000A>T	ENST00000264716.4	+	4	1529	c.666A>T	c.(664-666)aaA>aaT	p.K222N	FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N|FOSL2_ENST00000379619.1_Missense_Mutation_p.K214N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	222					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGTGGTGAAACAGGAGCCCC	0.672																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(664-666)aaA>aaT		FOS-like antigen 2							33.0	37.0	36.0					2																	28635000		2203	4296	6499	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28635000A>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.666A>T	2.37:g.28635000A>T	ENSP00000264716:p.Lys222Asn					FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N|FOSL2_ENST00000379619.1_Missense_Mutation_p.K214N	p.K222N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			4	1529	+	Acute lymphoblastic leukemia(172;0.155)		222					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.666A>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577826	0.45902	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	D;T;T;T	0.81499	-1.5;-0.4;-1.36;-1.39	5.05	-5.02	0.02982	.	0.900315	0.08935	U	0.872467	T	0.78304	0.4262	M	0.66378	2.025	0.58432	D	0.999998	B	0.24043	0.096	B	0.18263	0.021	T	0.59440	-0.7454	10	0.66056	D	0.02	-18.8801	17.6979	0.88286	0.1005:0.0:0.8995:0.0	.	222	P15408	FOSL2_HUMAN	N	214;222;183;183	ENSP00000368939:K214N;ENSP00000264716:K222N;ENSP00000396497:K183N;ENSP00000439303:K183N	ENSP00000264716:K222N	K	+	3	2	FOSL2	28488504	0.203000	0.23435	0.741000	0.31004	0.960000	0.62799	-0.018000	0.12568	-1.543000	0.01723	-0.411000	0.06167	AAA		0.672	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		76	412	0	0	0	1	0	76	412				
MMEL1	79258	broad.mit.edu	37	1	2524320	2524320	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2524320C>A	ENST00000378412.3	-	20	2114	c.1953G>T	c.(1951-1953)atG>atT	p.M651I	MMEL1_ENST00000502556.1_Missense_Mutation_p.M494I|MMEL1_ENST00000288709.6_Missense_Mutation_p.M642I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	651						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACTGGTAGATCATGCACTCTG	0.607																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1924-1926)atG>atT		membrane metallo-endopeptidase-like 1							133.0	104.0	113.0					1																	2524320		2202	4300	6502	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2524320C>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1953G>T	1.37:g.2524320C>A	ENSP00000367668:p.Met651Ile					MMEL1_ENST00000378412.3_Missense_Mutation_p.M651I|MMEL1_ENST00000502556.1_Missense_Mutation_p.M494I	p.M642I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	20	2166	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	651					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1926G>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839532	0.51057	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90133	-2.62;-2.62;-2.62	4.76	4.76	0.60689	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85725	0.5763	N	0.12502	0.225	0.80722	D	1	P	0.37824	0.609	P	0.45881	0.496	D	0.83569	0.0111	10	0.20046	T	0.44	-47.5283	16.4985	0.84251	0.0:1.0:0.0:0.0	.	651	Q495T6	MMEL1_HUMAN	I	494;642;651;494	ENSP00000288709:M642I;ENSP00000367668:M651I;ENSP00000422492:M494I	ENSP00000288709:M642I	M	-	3	0	MMEL1	2514180	1.000000	0.71417	0.998000	0.56505	0.540000	0.34992	5.604000	0.67626	2.460000	0.83146	0.655000	0.94253	ATG		0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		6	303	1	0	0.0215528	1	0.0216335	6	303				
NAA25	80018	broad.mit.edu	37	12	112481532	112481532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112481532G>A	ENST00000261745.4	-	18	2395	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	716						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCCATTCTCGGCAGTCTTCTC	0.478																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(2146-2148)gCc>gTc		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							85.0	88.0	87.0					12																	112481532		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112481532G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2147C>T	12.37:g.112481532G>A	ENSP00000261745:p.Ala716Val						p.A716V	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			18	2395	-			716					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.2147C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444247	0.63067	.	.	ENSG00000111300	ENST00000261745	T	0.23950	1.88	5.79	5.79	0.91817	.	0.303172	0.36482	N	0.002567	T	0.20861	0.0502	N	0.19112	0.55	0.28563	N	0.911021	B;B	0.18741	0.02;0.03	B;B	0.15870	0.014;0.014	T	0.06552	-1.0820	10	0.33141	T	0.24	-1.2518	20.0473	0.97613	0.0:0.0:1.0:0.0	.	716;716	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	716	ENSP00000261745:A716V	ENSP00000261745:A716V	A	-	2	0	NAA25	110965915	1.000000	0.71417	0.959000	0.39883	0.914000	0.54420	5.923000	0.70045	2.722000	0.93159	0.655000	0.94253	GCC		0.478	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		49	536	0	0	0	1	0	49	536				
MAGEC3	139081	broad.mit.edu	37	X	140969366	140969366	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140969366G>A	ENST00000298296.1	+	4	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	231	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCCGTGAGTTCATAGAGA	0.443																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(691-693)gaG>gaA		melanoma antigen family C, 3							154.0	138.0	143.0					X																	140969366		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140969366G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.693G>A	X.37:g.140969366G>A						MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	p.E231E	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			4	693	+	Acute lymphoblastic leukemia(192;6.56e-05)		231			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.693G>A	CCDS14676.1																																																																																				0.443	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		154	569	0	0	0	1	0	154	569				
SLC2A9	56606	broad.mit.edu	37	4	10027631	10027631	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10027631C>A	ENST00000506583.1	-	3	178		c.e3-1		SLC2A9_ENST00000309065.3_Splice_Site			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9						glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GTTATTGTTTCTGAGAAAGAG	0.418																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.e3-1		solute carrier family 2 (facilitated glucose transporter), member 9							82.0	87.0	85.0					4																	10027631		2202	4300	6502	SO:0001630	splice_region_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:10027631C>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.40-1G>T	4.37:g.10027631C>A						SLC2A9_ENST00000309065.3_Splice_Site				Q9NRM0	GTR9_HUMAN			3	178	-								Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Splice_Site	SNP	ENST00000506583.1	37		CCDS3406.1																																																																																				0.418	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2		Intron	54	186	1	0	1.32667e-27	1	1.53764e-27	54	186				
EPX	8288	broad.mit.edu	37	17	56281654	56281654	+	Missense_Mutation	SNP	G	G	A	rs376090047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56281654G>A	ENST00000225371.5	+	12	2128	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	673					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R673Q(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TCCTTGTCTCGAATTATATGT	0.512																																						ENST00000225371.5																			1	Substitution - Missense(1)	p.R673Q(1)	endometrium(1)	breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(2017-2019)cGa>cAa		eosinophil peroxidase		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	100.0	105.0		2018	5.7	1.0	17		105	0,8600		0,0,4300	no	missense	EPX	NM_000502.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	673/716	56281654	1,13005	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56281654G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2018G>A	17.37:g.56281654G>A	ENSP00000225371:p.Arg673Gln						p.R673Q	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			12	2128	+			673					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.2018G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155851	0.94686	2.27E-4	0.0	ENSG00000121053	ENST00000225371	T	0.74737	-0.87	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.85945	2.785	0.58432	D	0.999998	D	0.76494	0.999	P	0.56563	0.801	D	0.87659	0.2533	10	0.87932	D	0	-2.5207	17.2336	0.86991	0.0:0.0:1.0:0.0	.	673	P11678	PERE_HUMAN	Q	673	ENSP00000225371:R673Q	ENSP00000225371:R673Q	R	+	2	0	EPX	53636653	0.988000	0.35896	0.996000	0.52242	0.597000	0.36814	4.535000	0.60629	2.660000	0.90430	0.655000	0.94253	CGA		0.512	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		75	359	0	0	0	1	0	75	359				
LARP1B	55132	broad.mit.edu	37	4	129043322	129043322	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129043322A>T	ENST00000326639.6	+	11	1714	c.1503A>T	c.(1501-1503)gaA>gaT	p.E501D	LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D|LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	501						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGAAGATGAAAACAAACACA	0.358																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(1501-1503)gaA>gaT		La ribonucleoprotein domain family, member 1B							98.0	95.0	96.0					4																	129043322		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129043322A>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1503A>T	4.37:g.129043322A>T	ENSP00000321997:p.Glu501Asp					LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D|LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D|LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000354456.3_5'UTR	p.E501D	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			11	1714	+			501					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.1503A>T	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.88|15.88	2.962449|2.962449	0.53400|0.53400	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T|.	0.36878|.	1.72;1.23;1.26;1.75;1.71;1.28|.	4.88|4.88	2.36|2.36	0.29203|0.29203	.|.	0.735154|.	0.12853|.	N|.	0.433769|.	T|.	0.55305|.	0.1912|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P;D;B|.	0.60160|.	0.768;0.987;0.031|.	B;P;B|.	0.55455|.	0.418;0.776;0.043|.	T|.	0.49293|.	-0.8955|.	10|.	0.20519|.	T|.	0.43|.	.|.	7.076|7.076	0.25205|0.25205	0.7959:0.0:0.073:0.1311|0.7959:0.0:0.073:0.1311	.|.	454;501;501|.	D6RJB0;Q659C4;G3XAJ5|.	.;LAR1B_HUMAN;.|.	D|X	501;501;454;454;501;501|470	ENSP00000321997:E501D;ENSP00000422850:E501D;ENSP00000427281:E454D;ENSP00000264584:E454D;ENSP00000396521:E501D;ENSP00000403586:E501D|.	ENSP00000264584:E454D|.	E|K	+|+	3|1	2|0	LARP1B|LARP1B	129262772|129262772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.475000|0.475000	0.33008|0.33008	2.360000|2.360000	0.44151|0.44151	0.869000|0.869000	0.35703|0.35703	0.491000|0.491000	0.48974|0.48974	GAA|AAA		0.358	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		77	364	0	0	0	1	0	77	364				
SQSTM1	8878	broad.mit.edu	37	5	179260107	179260107	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260107G>T	ENST00000389805.4	+	6	1008	c.830G>T	c.(829-831)aGc>aTc	p.S277I	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	277	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCCAGCACAGAGGAG	0.597																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(829-831)aGc>aTc		sequestosome 1							48.0	51.0	50.0					5																	179260107		2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179260107G>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.830G>T	5.37:g.179260107G>T	ENSP00000374455:p.Ser277Ile					SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I	p.S277I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1008	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	277			Interaction with NTRK1 (By similarity).|Ser-rich.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.830G>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524800	0.44969	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.83250	-1.7;-1.69;-1.7;2.29;-1.7	5.0	4.12	0.48240	.	0.387327	0.34088	N	0.004266	D	0.82318	0.5011	M	0.62723	1.935	0.35179	D	0.77226	B;P	0.50943	0.229;0.94	B;P	0.44860	0.087;0.462	D	0.87969	0.2735	10	0.66056	D	0.02	-13.9965	13.5979	0.62002	0.0:0.157:0.843:0.0	.	277;277	Q13501;E7EMC7	SQSTM_HUMAN;.	I	193;277;133;193;277;193	ENSP00000366128:S193I;ENSP00000374455:S277I;ENSP00000385553:S193I;ENSP00000424477:S277I;ENSP00000353944:S193I	ENSP00000353944:S193I	S	+	2	0	SQSTM1	179192713	0.042000	0.20092	0.195000	0.23364	0.168000	0.22595	1.631000	0.37092	1.225000	0.43566	0.491000	0.48974	AGC		0.597	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			34	222	1	0	4.00102e-26	1	4.60546e-26	34	222				
KIF5A	3798	broad.mit.edu	37	12	57968967	57968967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57968967G>A	ENST00000455537.2	+	16	2091	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	606					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGCGGTGCCGGCAGCTGGAG	0.572																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(1816-1818)cGg>cAg		kinesin family member 5A							54.0	46.0	49.0					12																	57968967		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57968967G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1817G>A	12.37:g.57968967G>A	ENSP00000408979:p.Arg606Gln					KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	p.R606Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			16	2091	+			606					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1817G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139318	0.56936	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85861	-2.04;-2.04	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.38838	1.175	0.49299	D	0.999772	B;B	0.22800	0.075;0.033	B;B	0.14578	0.011;0.011	T	0.72666	-0.4224	10	0.15952	T	0.53	.	16.5549	0.84482	0.0:0.0:1.0:0.0	.	517;606	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	606;517	ENSP00000408979:R606Q;ENSP00000286452:R517Q	ENSP00000286452:R517Q	R	+	2	0	KIF5A	56255234	0.972000	0.33761	1.000000	0.80357	0.992000	0.81027	1.429000	0.34903	2.504000	0.84457	0.655000	0.94253	CGG		0.572	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		26	103	0	0	0	1	0	26	103				
NTN3	4917	broad.mit.edu	37	16	2522417	2522417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522417G>A	ENST00000293973.1	+	1	918	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	239	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CATGGAGGCCGTCGTCCCTTA	0.657																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(715-717)Gtc>Atc		netrin 3							49.0	45.0	46.0					16																	2522417		2197	4297	6494	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522417G>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.715G>A	16.37:g.2522417G>A	ENSP00000293973:p.Val239Ile						p.V239I	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	918	+			239			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.715G>A	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	g	1.169	-0.641649	0.03531	.	.	ENSG00000162068	ENST00000293973	T	0.75154	-0.91	3.94	-1.18	0.09617	Laminin, N-terminal (3);	1.578620	0.03511	N	0.219615	T	0.56645	0.1999	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.37606	T	0.19	.	5.5086	0.16868	0.4158:0.2571:0.3271:0.0	.	239	O00634	NET3_HUMAN	I	239	ENSP00000293973:V239I	ENSP00000293973:V239I	V	+	1	0	NTN3	2462418	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.177000	0.03096	-0.993000	0.03467	-4.718000	0.00003	GTC		0.657	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		72	305	0	0	0	1	0	72	305				
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948557C>T	ENST00000401399.1	+	18	2245	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367172.4_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000367170.4_Silent_p.P682P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572																																						ENST00000367172.4																			6	Substitution - coding silent(6)	p.P678P(3)|p.P682P(3)	lung(4)|endometrium(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(2044-2046)ccC>ccT		neurofascin							105.0	103.0	103.0					1																	204948557		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204948557C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2046C>T	1.37:g.204948557C>T						NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P	p.P682P			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		19	2374	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		682			Fibronectin type-III 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.2046C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	1.163	-0.643289	0.03531	.	.	ENSG00000163531	ENST00000367173	T	0.60040	0.22	5.43	0.461	0.16689	.	0.382752	0.22265	N	0.062346	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51411	-0.8709	7	0.87932	D	0	.	0.7637	0.01011	0.4593:0.1208:0.2102:0.2096	.	.	.	.	L	652	ENSP00000356141:P652L	ENSP00000356141:P652L	P	+	2	0	NFASC	203215180	0.000000	0.05858	0.984000	0.44739	0.013000	0.08279	-2.110000	0.01334	-0.168000	0.10853	-1.193000	0.01689	CCG		0.572	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		140	600	0	0	0	1	0	140	600				
LACC1	144811	broad.mit.edu	37	13	44455438	44455438	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:44455438T>G	ENST00000441843.1	+	2	802	c.317T>G	c.(316-318)aTt>aGt	p.I106S	CCDC122_ENST00000476570.2_5'Flank|LACC1_ENST00000325686.6_Missense_Mutation_p.I106S|CCDC122_ENST00000444614.3_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	106																	ATTAAGGTAATTGTACCCAGG	0.348																																						ENST00000441843.1																			0											c.(316-318)aTt>aGt		laccase (multicopper oxidoreductase) domain containing 1							64.0	65.0	64.0					13																	44455438		2203	4300	6503	SO:0001583	missense	144811							g.chr13:44455438T>G	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.317T>G	13.37:g.44455438T>G	ENSP00000391747:p.Ile106Ser					LACC1_ENST00000325686.6_Missense_Mutation_p.I106S	p.I106S	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			2	802	+			106					A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	c.317T>G	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172483	0.57584	.	.	ENSG00000179630	ENST00000441843;ENST00000425906;ENST00000325686	T;T	0.54675	0.56;0.56	5.66	5.66	0.87406	.	0.272209	0.42172	D	0.000744	T	0.52240	0.1722	M	0.66939	2.045	0.50467	D	0.999871	P	0.39216	0.664	B	0.35470	0.203	T	0.60120	-0.7325	10	0.87932	D	0	-1.1857	15.3831	0.74676	0.0:0.0:0.0:1.0	.	106	Q8IV20	LACC1_HUMAN	S	106	ENSP00000391747:I106S;ENSP00000317619:I106S	ENSP00000317619:I106S	I	+	2	0	LACC1	43353438	1.000000	0.71417	0.966000	0.40874	0.964000	0.63967	5.882000	0.69714	2.285000	0.76669	0.533000	0.62120	ATT		0.348	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		10	256	0	0	0	1	0	10	256				
C16orf59	80178	broad.mit.edu	37	16	2510961	2510961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510961C>A	ENST00000361837.4	+	4	406	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	C16orf59_ENST00000569496.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	114										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATTGTCACCTCTTCTGGCACG	0.617																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(340-342)tCt>tAt		chromosome 16 open reading frame 59							68.0	77.0	74.0					16																	2510961		2075	4206	6281	SO:0001583	missense	80178							g.chr16:2510961C>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.341C>A	16.37:g.2510961C>A	ENSP00000355022:p.Ser114Tyr					C16orf59_ENST00000361837.4_Missense_Mutation_p.S114Y|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y	p.S114Y			Q7L2K0	CP059_HUMAN			4	400	+		Ovarian(90;0.17)	114					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.341C>A	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720521	0.30503	.	.	ENSG00000162062	ENST00000361837	T	0.50813	0.73	3.12	2.13	0.27403	.	.	.	.	.	T	0.43366	0.1244	L	0.36672	1.1	0.18873	N	0.999989	P	0.47191	0.891	P	0.48227	0.571	T	0.23868	-1.0176	9	0.62326	D	0.03	-0.2078	8.1298	0.31020	0.0:0.7507:0.2493:0.0	.	114	Q7L2K0	CP059_HUMAN	Y	114	ENSP00000355022:S114Y	ENSP00000355022:S114Y	S	+	2	0	C16orf59	2450962	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	1.034000	0.30204	0.609000	0.30018	0.655000	0.94253	TCT		0.617	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		82	315	1	0	3.73172e-31	1	4.38876e-31	82	315				
EXTL2	2135	broad.mit.edu	37	1	101343202	101343202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101343202G>T	ENST00000370114.3	-	3	1699	c.263C>A	c.(262-264)gCt>gAt	p.A88D	EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D|EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	88					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ATTTGGTACAGCCTGATAATG	0.418																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(262-264)gCt>gAt		exostosin-like glycosyltransferase 2							139.0	139.0	139.0					1																	101343202		2203	4300	6503	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101343202G>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.263C>A	1.37:g.101343202G>T	ENSP00000359132:p.Ala88Asp					EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D|EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D	p.A88D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	3	1699	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	88					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.263C>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959892	0.92791	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.74647	2.275	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63877	0.919;0.919	D	0.85227	0.1030	10	0.54805	T	0.06	-22.5163	20.0018	0.97417	0.0:0.0:1.0:0.0	.	88;88	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	D	88;88;75;96;75	ENSP00000359132:A88D;ENSP00000359131:A88D;ENSP00000444385:A75D;ENSP00000403363:A96D;ENSP00000392255:A75D	ENSP00000359131:A88D	A	-	2	0	EXTL2	101115790	1.000000	0.71417	0.963000	0.40424	0.825000	0.46686	6.182000	0.71995	2.793000	0.96121	0.655000	0.94253	GCT		0.418	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		49	380	1	0	7.05377e-20	1	7.88546e-20	49	380				
FMNL3	91010	broad.mit.edu	37	12	50042916	50042916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50042916C>T	ENST00000293590.5	-	21	2644	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000335154.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	804	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGTCATCTTCCGGTCAGTGGA	0.552																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2410-2412)cGg>cAg		formin-like 3							130.0	140.0	137.0					12																	50042916		2096	4228	6324	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50042916C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2411G>A	12.37:g.50042916C>T	ENSP00000293590:p.Arg804Gln					FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q	p.R804Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			21	2644	-			804			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.2411G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.679679	0.96774	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.54863	1.705	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.991;0.986;0.995	T	0.68085	-0.5502	10	0.21014	T	0.42	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	753;804;804	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	Q	804;804;753;804	ENSP00000335655:R804Q;ENSP00000447479:R804Q;ENSP00000344311:R753Q;ENSP00000293590:R804Q	ENSP00000293590:R804Q	R	-	2	0	FMNL3	48329183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.990000	0.70595	2.723000	0.93209	0.655000	0.94253	CGG		0.552	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		35	875	0	0	0	1	0	35	875				
LRRC8E	80131	broad.mit.edu	37	19	7963918	7963918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7963918G>A	ENST00000306708.6	+	3	612	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	171					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGAGGTATCCGGGGAGAACCA	0.627																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(511-513)Ggg>Agg		leucine rich repeat containing 8 family, member E							46.0	53.0	51.0					19																	7963918		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7963918G>A		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.511G>A	19.37:g.7963918G>A	ENSP00000306524:p.Gly171Arg					AC010336.1_ENST00000539278.1_3'UTR	p.G171R	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	612	+			171					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.511G>A	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405485	0.42715	.	.	ENSG00000171017	ENST00000306708	T	0.26373	1.74	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.42245	1.32	0.48571	D	0.999674	D	0.71674	0.998	P	0.60609	0.877	T	0.07790	-1.0754	10	0.52906	T	0.07	.	16.2508	0.82485	0.0:0.0:1.0:0.0	.	171	Q6NSJ5	LRC8E_HUMAN	R	171	ENSP00000306524:G171R	ENSP00000306524:G171R	G	+	1	0	LRRC8E	7869918	1.000000	0.71417	0.984000	0.44739	0.919000	0.55068	5.465000	0.66725	2.709000	0.92574	0.655000	0.94253	GGG		0.627	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		130	507	0	0	0	1	0	130	507				
PPT2	9374	broad.mit.edu	37	6	32130591	32130591	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130591T>C	ENST00000324816.6	+	9	1341	c.773T>C	c.(772-774)cTg>cCg	p.L258P	PPT2-EGFL8_ENST00000422437.1_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|EGFL8_ENST00000333845.6_5'Flank|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2-EGFL8_ENST00000453656.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	258					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AAGGTTTATCTGCGGGATTCT	0.562																																						ENST00000324816.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						c.(772-774)cTg>cCg		palmitoyl-protein thioesterase 2							108.0	117.0	114.0					6																	32130591		2203	4300	6503	SO:0001583	missense	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32130591T>C	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.773T>C	6.37:g.32130591T>C	ENSP00000320528:p.Leu258Pro					PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P|PPT2_ENST00000437001.2_Intron	p.L258P			Q9UMR5	PPT2_HUMAN			9	1341	+			258					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.773T>C	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258556	0.59321	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000324816;ENST00000375137;ENST00000375143	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	5.81	5.81	0.92471	.	0.080153	0.51477	D	0.000092	D	0.95140	0.8425	L	0.47190	1.495	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.57324	0.752;0.818	D	0.94354	0.7582	10	0.35671	T	0.21	-8.3285	12.5588	0.56269	0.0:0.0:0.0:1.0	.	258;264	Q9UMR5;B0S872	PPT2_HUMAN;.	P	264;258;258;258;258	ENSP00000354608:L264P;ENSP00000378894:L258P;ENSP00000320528:L258P;ENSP00000364279:L258P;ENSP00000364285:L258P	ENSP00000320528:L258P	L	+	2	0	PPT2	32238569	0.929000	0.31497	0.997000	0.53966	0.988000	0.76386	2.341000	0.43983	2.210000	0.71456	0.533000	0.62120	CTG		0.562	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		113	885	0	0	0	1	0	113	885				
TMPRSS9	360200	broad.mit.edu	37	19	2405479	2405479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2405479C>T	ENST00000332578.3	+	6	676	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	226	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACAAGGAGCACTTCTGTGG	0.617																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(676-678)Cac>Tac		transmembrane protease, serine 9							82.0	80.0	81.0					19																	2405479		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2405479C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.676C>T	19.37:g.2405479C>T	ENSP00000330264:p.His226Tyr						p.H226Y	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	676	+			226			Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.676C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467424	0.84533	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.60548	0.18	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000112	T	0.70945	0.3282	L	0.49513	1.565	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74836	-0.3529	10	0.87932	D	0	.	15.9549	0.79880	0.0:1.0:0.0:0.0	.	226;260	Q7Z410;E7EMP4	TMPS9_HUMAN;.	Y	260;226	ENSP00000330264:H226Y	ENSP00000330264:H226Y	H	+	1	0	TMPRSS9	2356479	1.000000	0.71417	0.990000	0.47175	0.829000	0.46940	7.628000	0.83189	2.188000	0.69820	0.484000	0.47621	CAC		0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		64	337	0	0	0	1	0	64	337				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162637	33162637	+	lincRNA	SNP	C	C	T	rs1842247	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33162637C>T	ENST00000510327.1	-	0	346																											TGTCCCACTACGTGCTGCCCC	0.468													C|||	137	0.0273562	0.0998	0.0043	5008	,	,		19228	0.0		0.002	False		,,,				2504	0.0					ENST00000510327.1																			0																																																			0							g.chr5:33162637C>T																													5.37:g.33162637C>T														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.468	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			27	121	0	0	0	1	0	27	121				
PLXDC1	57125	broad.mit.edu	37	17	37234253	37234253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234253C>T	ENST00000315392.4	-	11	1310	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	367					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCAGGGGAGGCTGAGTCGTGG	0.557																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1099-1101)Gcc>Acc		plexin domain containing 1							195.0	129.0	152.0					17																	37234253		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37234253C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1099G>A	17.37:g.37234253C>T	ENSP00000323927:p.Ala367Thr					PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T	p.A367T	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			11	1310	-			367					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.1099G>A	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	4.894	0.166156	0.09339	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.21734	1.99;1.99	5.2	0.627	0.17675	.	0.467132	0.21120	N	0.079822	T	0.11324	0.0276	N	0.22421	0.69	0.31484	N	0.666856	B;B	0.26935	0.164;0.041	B;B	0.22601	0.04;0.025	T	0.33752	-0.9856	10	0.10377	T	0.69	-11.8196	11.4445	0.50114	0.2013:0.7065:0.0921:0.0	.	327;367	B4E173;Q8IUK5	.;PXDC1_HUMAN	T	367;294;327	ENSP00000323927:A367T;ENSP00000409687:A327T	ENSP00000323927:A367T	A	-	1	0	PLXDC1	34487779	0.111000	0.22076	0.074000	0.20217	0.112000	0.19704	0.621000	0.24418	-0.026000	0.13895	0.655000	0.94253	GCC		0.557	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		55	259	0	0	0	1	0	55	259				
SMG5	23381	broad.mit.edu	37	1	156221200	156221200	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156221200T>C	ENST00000361813.5	-	20	2966	c.2822A>G	c.(2821-2823)gAt>gGt	p.D941G	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	941	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTACCAGGCATCTGCATCCTG	0.547																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(2821-2823)gAt>gGt		SMG5 nonsense mediated mRNA decay factor							224.0	215.0	218.0					1																	156221200		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156221200T>C	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2822A>G	1.37:g.156221200T>C	ENSP00000355261:p.Asp941Gly					SMG5_ENST00000368267.4_Intron	p.D941G	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			20	2966	-	Hepatocellular(266;0.158)		941			PINc.		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.2822A>G	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898959	0.72754	.	.	ENSG00000198952	ENST00000361813	T	0.33654	1.4	4.56	4.56	0.56223	Nucleotide binding protein, PINc (1);	0.060757	0.64402	D	0.000005	T	0.27489	0.0675	L	0.52573	1.65	0.80722	D	1	P	0.47677	0.899	P	0.45913	0.497	T	0.10636	-1.0621	10	0.66056	D	0.02	-26.2081	13.2101	0.59819	0.0:0.0:0.0:1.0	.	941	Q9UPR3	SMG5_HUMAN	G	941	ENSP00000355261:D941G	ENSP00000355261:D941G	D	-	2	0	SMG5	154487824	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.029000	0.76477	2.062000	0.61559	0.459000	0.35465	GAT		0.547	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		177	849	0	0	0	1	0	177	849				
MARCH10	162333	broad.mit.edu	37	17	60814645	60814645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60814645C>A	ENST00000311269.5	-	6	858	c.584G>T	c.(583-585)aGg>aTg	p.R195M	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.R194M|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	195					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGATTTGGCCTCTTCAGCTT	0.468																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(580-582)aGg>aTg		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							261.0	247.0	252.0					17																	60814645		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60814645C>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.584G>T	17.37:g.60814645C>A	ENSP00000311496:p.Arg195Met					RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|MARCH10_ENST00000311269.5_Missense_Mutation_p.R195M|MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|RP11-156L14.1_ENST00000577270.1_RNA	p.R194M			Q8NA82	MARHA_HUMAN			7	959	-			195					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.581G>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107752	0.08780	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.33216	1.42;1.42;1.42	4.98	1.82	0.25136	.	0.185545	0.38164	N	0.001786	T	0.41719	0.1171	M	0.64997	1.995	0.22562	N	0.998987	D;D;D	0.59357	0.975;0.985;0.975	P;P;P	0.55161	0.594;0.77;0.594	T	0.31833	-0.9929	10	0.87932	D	0	-5.5333	10.1264	0.42652	0.0:0.7488:0.0:0.2512	.	194;194;195	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	M	195;195;194	ENSP00000416177:R195M;ENSP00000311496:R195M;ENSP00000443746:R194M	ENSP00000311496:R195M	R	-	2	0	MARCH10	58168377	0.972000	0.33761	0.908000	0.35775	0.230000	0.25150	0.652000	0.24888	-0.072000	0.12864	-1.134000	0.01955	AGG		0.468	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		246	1081	1	0	6.07341e-79	1	7.75994e-79	246	1081				
CHRNB4	1143	broad.mit.edu	37	15	78921375	78921375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921375C>T	ENST00000261751.3	-	5	1383	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	424					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.V424V(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ATGCCTCCTGCACATCCTGTC	0.592																																						ENST00000261751.3																			1	Substitution - coding silent(1)	p.V424V(1)	endometrium(1)	endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(1270-1272)gtG>gtA		cholinergic receptor, nicotinic, beta 4 (neuronal)							72.0	66.0	68.0					15																	78921375		2196	4293	6489	SO:0001819	synonymous_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921375C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1272G>A	15.37:g.78921375C>T						CHRNB4_ENST00000412074.2_Intron	p.V424V	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	1383	-			424					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	c.1272G>A	CCDS10306.1																																																																																				0.592	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			70	302	0	0	0	1	0	70	302				
PCNT	5116	broad.mit.edu	37	21	47851714	47851714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851714G>A	ENST00000359568.5	+	38	8443	c.8336G>A	c.(8335-8337)tGc>tAc	p.C2779Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2779					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGGAGGCTTGCGTGCACCAG	0.627																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8335-8337)tGc>tAc		pericentrin							35.0	35.0	35.0					21																	47851714		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851714G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8336G>A	21.37:g.47851714G>A	ENSP00000352572:p.Cys2779Tyr					PCNT_ENST00000480896.1_3'UTR	p.C2779Y	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8443	+	Breast(49;0.112)		2779					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8336G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.981997	0.18812	.	.	ENSG00000160299	ENST00000359568	T	0.10960	2.82	3.24	3.24	0.37175	.	.	.	.	.	T	0.22551	0.0544	L	0.54323	1.7	0.09310	N	0.999997	D;D	0.69078	0.997;0.991	D;P	0.73380	0.98;0.687	T	0.08513	-1.0718	9	0.06099	T	0.92	.	13.8003	0.63196	0.0:0.0:1.0:0.0	.	2661;2779	O95613-2;O95613	.;PCNT_HUMAN	Y	2779	ENSP00000352572:C2779Y	ENSP00000352572:C2779Y	C	+	2	0	PCNT	46676142	0.830000	0.29337	0.778000	0.31720	0.009000	0.06853	2.827000	0.48112	1.549000	0.49425	0.563000	0.77884	TGC		0.627	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		14	132	0	0	0	1	0	14	132				
DPP10	57628	broad.mit.edu	37	2	116101424	116101424	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101424G>A	ENST00000410059.1	+	3	687	c.207G>A	c.(205-207)ttG>ttA	p.L69L	DPP10_ENST00000310323.8_Silent_p.L62L|DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000393147.2_Silent_p.L73L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	69						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAACCAGATTGTCTTTGGAAG	0.343																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(205-207)ttG>ttA		dipeptidyl-peptidase 10 (non-functional)							92.0	96.0	94.0					2																	116101424		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116101424G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.207G>A	2.37:g.116101424G>A						DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000393147.2_Silent_p.L73L|DPP10_ENST00000310323.8_Silent_p.L62L	p.L69L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			3	687	+			69					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.207G>A	CCDS46400.1																																																																																				0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		73	319	0	0	0	1	0	73	319				
MC3R	4159	broad.mit.edu	37	20	54824572	54824572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824572C>T	ENST00000243911.2	+	1	785	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	225					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCACTGCCACCTGCCGA	0.597																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(673-675)Cca>Tca		melanocortin 3 receptor							189.0	126.0	147.0					20																	54824572		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824572C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.673C>T	20.37:g.54824572C>T	ENSP00000243911:p.Pro225Ser						p.P225S	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	785	+			262					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.673C>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274576	0.59649	.	.	ENSG00000124089	ENST00000243911	T	0.70869	-0.52	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.81465	0.4828	L	0.56340	1.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.82263	-0.0544	10	0.51188	T	0.08	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	262	P41968	MC3R_HUMAN	S	225	ENSP00000243911:P225S	ENSP00000243911:P225S	P	+	1	0	MC3R	54257979	1.000000	0.71417	0.983000	0.44433	0.222000	0.24845	7.624000	0.83124	2.259000	0.74868	0.555000	0.69702	CCA		0.597	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			72	296	0	0	0	1	0	72	296				
HEPHL1	341208	broad.mit.edu	37	11	93815642	93815642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93815642G>A	ENST00000315765.9	+	10	1783	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	592	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AATCTGAGCAGATATTTTGAT	0.358																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1774-1776)aGa>aAa		hephaestin-like 1							84.0	78.0	80.0					11																	93815642		1832	4086	5918	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93815642G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1775G>A	11.37:g.93815642G>A	ENSP00000313699:p.Arg592Lys						p.R592K	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			10	1783	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	592			Plastocyanin-like 4.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1775G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967790	0.53507	.	.	ENSG00000181333	ENST00000315765	D	0.99745	-6.61	5.59	4.49	0.54785	Cupredoxin (2);	0.400573	0.30036	N	0.010571	D	0.98292	0.9434	L	0.29908	0.895	0.23563	N	0.997405	B	0.14438	0.01	B	0.17098	0.017	D	0.95455	0.8538	10	0.54805	T	0.06	.	11.0203	0.47713	0.0777:0.0:0.79:0.1323	.	592	Q6MZM0	HPHL1_HUMAN	K	592	ENSP00000313699:R592K	ENSP00000313699:R592K	R	+	2	0	HEPHL1	93455290	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.150000	0.64869	2.628000	0.89032	0.655000	0.94253	AGA		0.358	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		25	116	0	0	0	1	0	25	116				
SLC34A2	10568	broad.mit.edu	37	4	25678182	25678182	+	Silent	SNP	G	G	A	rs141191689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678182G>A	ENST00000382051.3	+	13	1934	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	SLC34A2_ENST00000504570.1_Silent_p.A627A|SLC34A2_ENST00000503434.1_Silent_p.A627A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	628	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				gctgccgcgcgtgctgcttgc	0.657			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1882-1884)gcG>gcA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							28.0	29.0	29.0					4																	25678182		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678182G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1884G>A	4.37:g.25678182G>A						SLC34A2_ENST00000503434.1_Silent_p.A627A|SLC34A2_ENST00000504570.1_Silent_p.A627A	p.A628A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1934	+		Breast(46;0.0503)	628			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1884G>A	CCDS3435.1																																																																																				0.657	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		52	244	0	0	0	1	0	52	244				
SCN10A	6336	broad.mit.edu	37	3	38781150	38781150	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781150C>T	ENST00000449082.2	-	14	2135	c.2136G>A	c.(2134-2136)atG>atA	p.M712I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	712					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M712I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTTTGAAGACCATTTCAGCAG	0.433																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.M712I(1)	lung(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2134-2136)atG>atA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						59.0	56.0	57.0					3																	38781150		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781150C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2136G>A	3.37:g.38781150C>T	ENSP00000390600:p.Met712Ile						p.M712I	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2135	-			712					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2136G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530513	0.85706	.	.	ENSG00000185313	ENST00000449082	D	0.97186	-4.28	4.19	3.31	0.37934	Ion transport (1);	0.043664	0.85682	N	0.000000	D	0.96207	0.8763	M	0.79123	2.44	0.43798	D	0.996347	P	0.41498	0.752	B	0.41691	0.364	D	0.95374	0.8467	10	0.87932	D	0	.	11.8844	0.52594	0.0:0.9142:0.0:0.0858	.	712	Q9Y5Y9	SCNAA_HUMAN	I	712	ENSP00000390600:M712I	ENSP00000390600:M712I	M	-	3	0	SCN10A	38756154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	0.975000	0.38392	0.655000	0.94253	ATG		0.433	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		40	233	0	0	0	1	0	40	233				
AGAP3	116988	broad.mit.edu	37	7	150837093	150837093	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150837093C>T	ENST00000397238.2	+	13	1694	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	529	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GTACTCAGTTCCAGCCCCAAG	0.652																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1693-1695)tCc>tTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							22.0	29.0	27.0					7																	150837093		1946	4135	6081	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150837093C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1694C>T	7.37:g.150837093C>T	ENSP00000380413:p.Ser565Phe					AGAP3_ENST00000463381.1_Intron	p.S565F	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			13	1694	+			529			PH.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	c.1694C>T	CCDS43681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765334|4.765334	0.90020|0.90020	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000397232;ENST00000397238;ENST00000335355	.|T	.|0.70164	.|-0.46	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.775970	.|0.11883	.|N	.|0.520288	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;D	.|0.71674	.|0.943;0.998	.|B;P	.|0.61132	.|0.445;0.884	T|T	0.73325|0.73325	-0.4018|-0.4018	5|10	.|0.66056	.|D	.|0.02	.|.	17.2093|17.2093	0.86926|0.86926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|64;565	.|E7ETI2;Q96P47-4	.|.;.	S|F	58|64;565;529	.|ENSP00000380413:S565F	.|ENSP00000334157:S529F	P|S	+|+	1|2	0|0	AGAP3|AGAP3	150468026|150468026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	4.562000|4.562000	0.60816|0.60816	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.652	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		10	54	0	0	0	1	0	10	54				
ADCY3	109	broad.mit.edu	37	2	25057670	25057670	+	Missense_Mutation	SNP	C	C	T	rs564626097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25057670C>T	ENST00000260600.5	-	9	2649	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	ADCY3_ENST00000450524.1_5'Flank|ADCY3_ENST00000405392.1_Missense_Mutation_p.A233T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	600					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACACTTGGGCGGACTCTCGC	0.637													C|||	3	0.000599042	0.0	0.0043	5008	,	,		15217	0.0		0.0	False		,,,				2504	0.0					ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1798-1800)Gcc>Acc		adenylate cyclase 3							45.0	46.0	46.0					2																	25057670		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25057670C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1798G>A	2.37:g.25057670C>T	ENSP00000260600:p.Ala600Thr					ADCY3_ENST00000405392.1_Missense_Mutation_p.A233T	p.A600T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			9	2649	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		600					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1798G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397356	0.62177	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.261189	0.37095	N	0.002250	T	0.18002	0.0432	N	0.08118	0	0.40094	D	0.976298	P;P;P	0.44776	0.751;0.843;0.751	B;B;B	0.24394	0.037;0.037;0.053	T	0.15896	-1.0421	10	0.14252	T	0.57	.	17.2636	0.87078	0.0:1.0:0.0:0.0	.	600;600;233	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	T	600;233;575	ENSP00000260600:A600T;ENSP00000384484:A233T	ENSP00000260600:A600T	A	-	1	0	ADCY3	24911174	0.999000	0.42202	0.943000	0.38184	0.969000	0.65631	4.132000	0.57977	2.413000	0.81919	0.655000	0.94253	GCC		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			13	366	0	0	0	1	0	13	366				
EPHA10	284656	broad.mit.edu	37	1	38227628	38227628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38227628C>T	ENST00000373048.4	-	3	298	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGAAGATGCGCTGCCCGCG	0.607																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(298-300)cGc>cAc		EPH receptor A10							92.0	86.0	88.0					1																	38227628		2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227628C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.299G>A	1.37:g.38227628C>T	ENSP00000362139:p.Arg100His					EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H	p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	298	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	100					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.299G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867428	0.91511	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06449	3.3;3.3;3.3	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.29389	0.0732	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.11494	-1.0585	10	0.87932	D	0	.	16.6276	0.84975	0.0:1.0:0.0:0.0	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	100	ENSP00000397746:R100H;ENSP00000362139:R100H;ENSP00000316395:R100H	ENSP00000316395:R100H	R	-	2	0	EPHA10	38000215	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.593000	0.82686	2.448000	0.82819	0.549000	0.68633	CGC		0.607	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		79	644	0	0	0	1	0	79	644				
PXK	54899	broad.mit.edu	37	3	58383343	58383343	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58383343T>C	ENST00000356151.2	+	11	1105	c.996T>C	c.(994-996)agT>agC	p.S332S	PXK_ENST00000479241.1_Silent_p.S315S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000484288.1_Silent_p.S332S|PXK_ENST00000463280.1_Silent_p.S299S|PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000302779.5_Silent_p.S315S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CATTGGAAAGTGTGGATGTCC	0.542																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(895-897)agT>agC		PX domain containing serine/threonine kinase							196.0	176.0	182.0					3																	58383343		2203	4300	6503	SO:0001819	synonymous_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58383343T>C	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.996T>C	3.37:g.58383343T>C						PXK_ENST00000356151.2_Silent_p.S332S|PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000302779.5_Silent_p.S315S|PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000479241.1_Silent_p.S315S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000484288.1_Silent_p.S332S	p.S299S			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	9	988	+			332			Protein kinase.			Silent	SNP	ENST00000356151.2	37	c.897T>C	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352609	0.24512	.	.	ENSG00000168297	ENST00000479134	.	.	.	5.52	-2.33	0.06724	.	.	.	.	.	T	0.52549	0.1741	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50285	-0.8846	4	.	.	.	-15.6095	8.5718	0.33574	0.0:0.3656:0.104:0.5303	.	.	.	.	A	87	.	.	V	+	2	0	PXK	58358383	0.883000	0.30277	0.998000	0.56505	0.971000	0.66376	-0.103000	0.10940	-0.030000	0.13804	0.460000	0.39030	GTG		0.542	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		166	731	0	0	0	1	0	166	731				
PRAMENP	649179	broad.mit.edu	37	22	22380918	22380918	+	RNA	SNP	A	A	G	rs183479340	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22380918A>G	ENST00000337471.4	-	0	253									PRAME N-terminal-like, pseudogene																		GCTGATTATTACTGTTCAACA	0.577																																						ENST00000337471.4																			0																																																			0							g.chr22:22380918A>G			22q11.22	2013-09-27	2013-09-27	2013-09-27	ENSG00000197549	ENSG00000197549		"""-"""	34302	pseudogene	pseudogene			"""preferentially expressed antigen in melanoma-like"", ""PRAME family member 24, pseudogene"""	PRAMEL, PRAMEF24P			Standard	XR_425303		Approved	FLJ16327			OTTHUMG00000150836		22.37:g.22380918A>G														0	253	-									RNA	SNP	ENST00000337471.4	37																																																																																						0.577	PRAMENP-001	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000320276.2			7	54	0	0	0	1	0	7	54				
OR2G6	391211	broad.mit.edu	37	1	248685389	248685389	+	Missense_Mutation	SNP	G	G	A	rs138151830	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248685389G>A	ENST00000343414.4	+	1	474	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A148T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCGGTGGAGCATGGCTCAG	0.577																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.A148T(1)	lung(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(442-444)Gca>Aca		olfactory receptor, family 2, subfamily G, member 6							71.0	56.0	61.0					1																	248685389		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685389G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.442G>A	1.37:g.248685389G>A	ENSP00000341291:p.Ala148Thr						p.A148T	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	474	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	148					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.442G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.10	1.538821	0.27475	.	.	ENSG00000188558	ENST00000343414	T	0.37584	1.19	3.46	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	U	0.000985	T	0.40719	0.1128	L	0.38733	1.17	0.09310	N	1	D	0.64830	0.994	D	0.66351	0.943	T	0.05666	-1.0871	10	0.49607	T	0.09	.	5.6872	0.17809	0.1153:0.378:0.5068:0.0	.	148	Q5TZ20	OR2G6_HUMAN	T	148	ENSP00000341291:A148T	ENSP00000341291:A148T	A	+	1	0	OR2G6	246752012	0.000000	0.05858	0.008000	0.14137	0.021000	0.10359	-0.504000	0.06375	1.747000	0.51819	0.400000	0.26472	GCA		0.577	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		77	212	0	0	0	1	0	77	212				
SNTA1	6640	broad.mit.edu	37	20	32005695	32005695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32005695C>A	ENST00000217381.2	-	3	802	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	177	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CAGTAGAGTTCTTGAAATACG	0.567																																						ENST00000217381.2																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(529-531)aaG>aaT		syntrophin, alpha 1							90.0	89.0	90.0					20																	32005695		2203	4300	6503	SO:0001583	missense	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32005695C>A	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.531G>T	20.37:g.32005695C>A	ENSP00000217381:p.Lys177Asn						p.K177N	NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN			3	802	-			177			PH 1.		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	c.531G>T	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196233	0.78902	.	.	ENSG00000101400	ENST00000217381	T	0.59772	0.24	5.71	5.71	0.89125	PDZ/DHR/GLGF (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	L	0.49778	1.585	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-9.7851	13.7535	0.62921	0.0:0.9258:0.0:0.0742	.	177;177	B4DX40;Q13424	.;SNTA1_HUMAN	N	177	ENSP00000217381:K177N	ENSP00000217381:K177N	K	-	3	2	SNTA1	31469356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.618000	0.46393	2.694000	0.91930	0.655000	0.94253	AAG		0.567	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		77	340	1	0	2.72187e-29	1	3.17825e-29	77	340				
DROSHA	29102	broad.mit.edu	37	5	31423045	31423045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31423045C>T	ENST00000511367.2	-	28	3512	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	DROSHA_ENST00000344624.3_Missense_Mutation_p.E1090K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E1053K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E1053K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1090	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E1090*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTATTTGGCTCTTGTAGCTAC	0.308																																						ENST00000511367.2																			1	Substitution - Nonsense(1)	p.E1090*(1)	kidney(1)	breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3268-3270)Gag>Aag		drosha, ribonuclease type III							57.0	55.0	56.0					5																	31423045		1815	4064	5879	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31423045C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3268G>A	5.37:g.31423045C>T	ENSP00000425979:p.Glu1090Lys					DROSHA_ENST00000344624.3_Missense_Mutation_p.E1090K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E1053K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E1053K	p.E1090K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			28	3512	-			1090			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.3268G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172684	0.94807	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.47177	1.43;1.43;0.85;0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.69358	2.11	0.80722	D	1	D;D	0.55605	0.972;0.962	P;P	0.58780	0.845;0.691	T	0.66504	-0.5907	10	0.72032	D	0.01	-21.751	20.3248	0.98698	0.0:1.0:0.0:0.0	.	1053;1090	E7EMP9;Q9NRR4	.;RNC_HUMAN	K	1090;1090;1053;1053;1015;1046	ENSP00000425979:E1090K;ENSP00000339845:E1090K;ENSP00000409335:E1053K;ENSP00000424161:E1053K	ENSP00000265075:E1015K	E	-	1	0	DROSHA	31458802	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.271000	0.78506	2.818000	0.97014	0.655000	0.94253	GAG		0.308	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		13	71	0	0	0	1	0	13	71				
WDR25	79446	broad.mit.edu	37	14	100847801	100847801	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847801A>G	ENST00000335290.6	+	2	766	c.540A>G	c.(538-540)agA>agG	p.R180R	WDR25_ENST00000402312.3_Silent_p.R180R|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554998.1_Silent_p.R180R|WDR25_ENST00000554175.1_Silent_p.R180R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	180										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCCAGAAGACTAAGACAGC	0.537																																						ENST00000554175.1																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(538-540)agA>agG		WD repeat domain 25							81.0	90.0	87.0					14																	100847801		2203	4300	6503	SO:0001819	synonymous_variant	79446							g.chr14:100847801A>G	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.540A>G	14.37:g.100847801A>G						WDR25_ENST00000335290.6_Silent_p.R180R|WDR25_ENST00000402312.3_Silent_p.R180R|WDR25_ENST00000554998.1_Silent_p.R180R	p.180_180insR			Q64LD2	WDR25_HUMAN			2	719	+		Melanoma(154;0.212)						A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.540A>G	CCDS32157.1																																																																																				0.537	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		168	614	0	0	0	1	0	168	614				
HSF4	3299	broad.mit.edu	37	16	67199722	67199722	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67199722G>A	ENST00000521374.1	+	3	333	c.333G>A	c.(331-333)gaG>gaA	p.E111E	HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000264009.8_Silent_p.E111E|HSF4_ENST00000584272.1_Silent_p.E111E			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	111					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGGCCGCGAGCAGCTACTGG	0.687																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(331-333)gaG>gaA		heat shock transcription factor 4							10.0	14.0	13.0					16																	67199722		1880	3957	5837	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199722G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.333G>A	16.37:g.67199722G>A						HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000521374.1_Silent_p.E111E|HSF4_ENST00000584272.1_Silent_p.E111E	p.E111E	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1298	+		Ovarian(137;0.0563)	111					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.333G>A	CCDS42175.1																																																																																				0.687	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		24	130	0	0	0	1	0	24	130				
PTPRD	5789	broad.mit.edu	37	9	8636735	8636735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636735G>A	ENST00000381196.4	-	10	717	c.174C>T	c.(172-174)aaC>aaT	p.N58N	PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000463477.1_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	58	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCTTTTTTGTTCCAGACAA	0.458										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(172-174)aaC>aaT		protein tyrosine phosphatase, receptor type, D							122.0	116.0	118.0					9																	8636735		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636735G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.174C>T	9.37:g.8636735G>A		TSP Lung(15;0.13)				PTPRD_ENST00000463477.1_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N	p.N58N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	10	717	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	58			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.174C>T	CCDS43786.1																																																																																				0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			96	532	0	0	0	1	0	96	532				
MYO15A	51168	broad.mit.edu	37	17	18022454	18022454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18022454C>A	ENST00000205890.5	+	2	678	c.340C>A	c.(340-342)Cgc>Agc	p.R114S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	114					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCCCAGGCCGCCGTGGCTA	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(340-342)Cgc>Agc		myosin XVA							10.0	12.0	11.0					17																	18022454		1675	3746	5421	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022454C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.340C>A	17.37:g.18022454C>A	ENSP00000205890:p.Arg114Ser						p.R114S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	678	+	all_neural(463;0.228)		114			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.340C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710691	0.30322	.	.	ENSG00000091536	ENST00000205890	D	0.89552	-2.53	4.92	2.65	0.31530	.	.	.	.	.	T	0.79106	0.4390	N	0.24115	0.695	0.09310	N	0.999999	P	0.44690	0.841	B	0.35278	0.199	T	0.69316	-0.5177	9	0.54805	T	0.06	.	10.4112	0.44294	0.2702:0.6111:0.1186:0.0	.	114	Q9UKN7	MYO15_HUMAN	S	114	ENSP00000205890:R114S	ENSP00000205890:R114S	R	+	1	0	MYO15A	17963179	0.014000	0.17966	0.019000	0.16419	0.119000	0.20118	0.115000	0.15540	1.040000	0.40099	0.462000	0.41574	CGC		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		34	141	1	0	1.45844e-13	1	1.57644e-13	34	141				
EMILIN2	84034	broad.mit.edu	37	18	2890564	2890564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2890564G>A	ENST00000254528.3	+	4	598	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	147					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AACAGATAATGAACCCAGCCA	0.433																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(439-441)Gaa>Aaa		elastin microfibril interfacer 2							42.0	44.0	43.0					18																	2890564		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2890564G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.439G>A	18.37:g.2890564G>A	ENSP00000254528:p.Glu147Lys						p.E147K	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	598	+			147					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.439G>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534511	0.27475	.	.	ENSG00000132205	ENST00000254528	T	0.35236	1.32	5.44	5.44	0.79542	.	0.759946	0.12001	N	0.508783	T	0.33818	0.0876	L	0.54323	1.7	0.32662	N	0.51795	B	0.21147	0.052	B	0.21917	0.037	T	0.36962	-0.9726	10	0.06494	T	0.89	-11.8618	14.7602	0.69600	0.0:0.0:1.0:0.0	.	147	Q9BXX0	EMIL2_HUMAN	K	147	ENSP00000254528:E147K	ENSP00000254528:E147K	E	+	1	0	EMILIN2	2880564	1.000000	0.71417	0.994000	0.49952	0.234000	0.25298	4.484000	0.60271	2.555000	0.86185	0.557000	0.71058	GAA		0.433	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		38	247	0	0	0	1	0	38	247				
POLG	5428	broad.mit.edu	37	15	89872050	89872050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872050C>T	ENST00000268124.5	-	5	1369	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	POLG_ENST00000442287.2_Missense_Mutation_p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	346					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCCAGCCAGTCCCAGGATGAG	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(1036-1038)Gac>Aac	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							56.0	56.0	56.0					15																	89872050		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89872050C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1036G>A	15.37:g.89872050C>T	ENSP00000268124:p.Asp346Asn					POLG_ENST00000442287.2_Missense_Mutation_p.D346N	p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		5	1369	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		346					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.1036G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316201	0.95655	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.99376	-5.79;-5.79	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.041214	0.85682	D	0.000000	D	0.99199	0.9722	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	D	0.99924	1.1273	10	0.16896	T	0.51	-35.7266	19.6556	0.95837	0.0:1.0:0.0:0.0	.	346	P54098	DPOG1_HUMAN	N	346	ENSP00000268124:D346N;ENSP00000399851:D346N	ENSP00000268124:D346N	D	-	1	0	POLG	87673054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GAC		0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		70	329	0	0	0	1	0	70	329				
PKD1	5310	broad.mit.edu	37	16	2147955	2147955	+	Missense_Mutation	SNP	C	C	T	rs556305710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147955C>T	ENST00000262304.4	-	31	10289	c.10081G>A	c.(10081-10083)Ggg>Agg	p.G3361R	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G3361R|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3361					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTGCTGCCCGGCAGGTGTG	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		16616	0.001		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(10081-10083)Ggg>Agg		polycystic kidney disease 1 (autosomal dominant)							6.0	7.0	7.0					16																	2147955		2077	4122	6199	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2147955C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10081G>A	16.37:g.2147955C>T	ENSP00000262304:p.Gly3361Arg					PKD1_ENST00000423118.1_Missense_Mutation_p.G3361R	p.G3361R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			31	10289	-			3361					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.10081G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159263	0.38119	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34472	1.36;1.36	4.29	2.28	0.28536	.	0.251232	0.37955	N	0.001866	T	0.32133	0.0819	M	0.62723	1.935	0.23411	N	0.997732	P;P	0.47841	0.901;0.748	B;B	0.39217	0.294;0.106	T	0.21655	-1.0239	10	0.21014	T	0.42	.	13.3637	0.60671	0.0:0.8516:0.0:0.1484	.	3361;3361	P98161-3;P98161	.;PKD1_HUMAN	R	3361;3361;2696	ENSP00000262304:G3361R;ENSP00000399501:G3361R	ENSP00000262304:G3361R	G	-	1	0	PKD1	2087956	0.768000	0.28519	0.002000	0.10522	0.017000	0.09413	1.389000	0.34453	0.112000	0.17975	-1.164000	0.01763	GGG		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			29	98	0	0	0	1	0	29	98				
SLCO1B3	28234	broad.mit.edu	37	12	21014072	21014072	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21014072G>A	ENST00000381545.3	+	6	700	c.481G>A	c.(481-483)Gat>Aat	p.D161N	SLCO1B3_ENST00000261196.2_Splice_Site_p.D161N|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Splice_Site_p.D161N|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Splice_Site_p.D161N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	161					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AGTAGAAAAAGGTAAGAATTA	0.264																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.e6+1		solute carrier organic anion transporter family, member 1B3							39.0	40.0	39.0					12																	21014072		2197	4266	6463	SO:0001630	splice_region_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21014072G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.481+1G>A	12.37:g.21014072G>A						SLCO1B3_ENST00000261196.2_Splice_Site_p.D161_splice|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Splice_Site_p.D161_splice|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Splice_Site_p.D161_splice	p.D161_splice	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			6	700	+	Esophageal squamous(101;0.149)		161					E7EMT8|Q5JAR4	Splice_Site	SNP	ENST00000381545.3	37	c.481_splice	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456291	0.63401	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000540229	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	3.53	3.53	0.40419	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.536026	0.18710	N	0.133308	T	0.18759	0.0450	N	0.05177	-0.1	0.80722	D	1	P;P	0.37015	0.536;0.578	B;B	0.41412	0.288;0.356	T	0.03761	-1.1006	10	0.23302	T	0.38	.	6.6772	0.23100	0.13:0.0:0.87:0.0	.	161;161	Q5JAR4;Q9NPD5	.;SO1B3_HUMAN	N	161	ENSP00000442000:D161N;ENSP00000261196:D161N;ENSP00000370956:D161N;ENSP00000451758:D161N;ENSP00000441269:D161N	ENSP00000441269:D161N	D	+	1	0	SLCO1B3;RP11-545J16.1	20905339	1.000000	0.71417	0.988000	0.46212	0.630000	0.37929	4.956000	0.63645	1.810000	0.52873	0.467000	0.42956	GAT		0.264	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	Missense_Mutation	30	117	0	0	0	1	0	30	117				
ACSM2A	123876	broad.mit.edu	37	16	20476939	20476939	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20476939C>T	ENST00000573854.1	+	3	392	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	93					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAGCAGGCAGCCAACGTC	0.612																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(277-279)gCa>gTa		acyl-CoA synthetase medium-chain family member 2A							126.0	112.0	117.0					16																	20476939		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476939C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.278C>T	16.37:g.20476939C>T	ENSP00000459451:p.Ala93Val					ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V	p.A93V	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			3	392	+			93					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.278C>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860063	0.32884	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.76	1.74	0.24563	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.15089	0.0364	N	0.17312	0.475	0.23174	N	0.998176	B;B	0.34290	0.174;0.447	B;B	0.26202	0.046;0.067	T	0.20505	-1.0273	10	0.02654	T	1	-0.3522	7.392	0.26915	0.0:0.6887:0.0:0.3113	.	14;93	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	V	14;93;93;93	ENSP00000392169:A14V;ENSP00000219054:A93V;ENSP00000394904:A93V;ENSP00000379411:A93V	ENSP00000219054:A93V	A	+	2	0	ACSM2A	20384440	0.010000	0.17322	0.051000	0.19133	0.453000	0.32348	0.333000	0.19768	0.200000	0.20447	0.298000	0.19748	GCA		0.612	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		26	341	0	0	0	1	0	26	341				
PDZRN4	29951	broad.mit.edu	37	12	41900458	41900458	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41900458G>T	ENST00000402685.2	+	4	1052	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	PDZRN4_ENST00000298919.7_Missense_Mutation_p.K88N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	348							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTCTGGCCAAGCTTCGTCCAC	0.488																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(262-264)aaG>aaT		PDZ domain containing ring finger 4							165.0	138.0	147.0					12																	41900458		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41900458G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1044G>T	12.37:g.41900458G>T	ENSP00000384197:p.Lys348Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.K348N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N	p.K88N			Q6ZMN7	PZRN4_HUMAN			4	652	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	348					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.264G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702531	0.48307	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73789	-0.78;3.66;3.66	5.08	1.88	0.25563	.	3.044700	0.01135	N	0.006067	D	0.87273	0.6136	M	0.80183	2.485	0.49798	D	0.999824	D;P;P	0.89917	1.0;0.635;0.517	D;B;B	0.73708	0.981;0.347;0.317	T	0.69386	-0.5159	10	0.66056	D	0.02	-39.6877	10.0306	0.42099	0.4541:0.0:0.5459:0.0	.	348;88;90	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	348;90;88	ENSP00000384197:K348N;ENSP00000439990:K90N;ENSP00000298919:K88N	ENSP00000298919:K88N	K	+	3	2	PDZRN4	40186725	1.000000	0.71417	0.980000	0.43619	0.695000	0.40330	1.398000	0.34554	0.242000	0.21303	-0.251000	0.11542	AAG		0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		56	306	1	0	7.77372e-23	1	8.81276e-23	56	306				
FAM13B	51306	broad.mit.edu	37	5	137354186	137354186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137354186C>T	ENST00000033079.3	-	4	626	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	59	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TGAAAAAGTCCTTGTTGCTCC	0.423																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(175-177)Gga>Aga		family with sequence similarity 13, member B							127.0	118.0	121.0					5																	137354186		2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137354186C>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.175G>A	5.37:g.137354186C>T	ENSP00000033079:p.Gly59Arg					FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R|FAM13B_ENST00000425075.2_5'UTR	p.G59R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			4	626	-			59			Rho-GAP.		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.175G>A	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452507	0.84209	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310;ENST00000502471;ENST00000509596;ENST00000508403	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.91	5.91	0.95273	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.86755	0.1963	10	0.87932	D	0	-16.8533	20.2963	0.98556	0.0:1.0:0.0:0.0	.	59;59	Q9NYF5-2;Q9NYF5	.;FA13B_HUMAN	R	59	ENSP00000033079:G59R;ENSP00000388521:G59R;ENSP00000425326:G59R;ENSP00000424785:G59R;ENSP00000422311:G59R;ENSP00000426863:G59R	ENSP00000033079:G59R	G	-	1	0	FAM13B	137382085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.162000	0.77515	2.813000	0.96785	0.655000	0.94253	GGA		0.423	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			29	452	0	0	0	1	0	29	452				
DOT1L	84444	broad.mit.edu	37	19	2220181	2220181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2220181C>T	ENST00000398665.3	+	23	2802	c.2766C>T	c.(2764-2766)gcC>gcT	p.A922A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	922					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTAATGCCCACGGTGCTG	0.627																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(2764-2766)gcC>gcT		DOT1-like histone H3K79 methyltransferase							48.0	57.0	54.0					19																	2220181		2042	4181	6223	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2220181C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2766C>T	19.37:g.2220181C>T							p.A922A	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	2802	+		Hepatocellular(1079;0.137)	922					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.2766C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411334	0.42817	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.62	2.41	0.29592	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	-2.577	3.6293	0.08126	0.1783:0.5458:0.0:0.2758	.	.	.	.	L	709	.	.	P	+	2	0	DOT1L	2171181	1.000000	0.71417	0.190000	0.23270	0.917000	0.54804	1.439000	0.35013	0.366000	0.24427	0.462000	0.41574	CCC		0.627	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		12	200	0	0	0	1	0	12	200				
GSE1	23199	broad.mit.edu	37	16	85691142	85691142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85691142G>A	ENST00000253458.7	+	8	1748	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	GSE1_ENST00000405402.2_Silent_p.E420E|RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000393243.1_Silent_p.E451E	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	524																	AGGTGCTGGAGCAGCACCTGG	0.687																																						ENST00000253458.7																			0											c.(1570-1572)gaG>gaA		Gse1 coiled-coil protein							11.0	15.0	14.0					16																	85691142		2169	4280	6449	SO:0001819	synonymous_variant	23199							g.chr16:85691142G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1572G>A	16.37:g.85691142G>A						GSE1_ENST00000405402.2_Silent_p.E420E|GSE1_ENST00000393243.1_Silent_p.E451E	p.E524E	NM_014615.2	NP_055430.1					8	1748	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.1572G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.140	0.785038	0.16189	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.07	4.1	0.47936	.	.	.	.	.	T	0.72374	0.3452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70378	-0.4888	4	.	.	.	-29.4069	16.6117	0.84885	0.0706:0.0:0.9294:0.0	.	.	.	.	N	331	.	.	S	+	2	0	KIAA0182	84248643	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.570000	0.82390	0.552000	0.29026	-1.134000	0.01955	AGC		0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		27	85	0	0	0	1	0	27	85				
AHNAK2	113146	broad.mit.edu	37	14	105408319	105408319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105408319G>A	ENST00000333244.5	-	7	13588	c.13469C>T	c.(13468-13470)gCg>gTg	p.A4490V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4490						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTTTGGCGCAGACACATC	0.572																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13468-13470)gCg>gTg		AHNAK nucleoprotein 2							165.0	172.0	170.0					14																	105408319		2040	4187	6227	SO:0001583	missense	113146					nucleus		g.chr14:105408319G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13469C>T	14.37:g.105408319G>A	ENSP00000353114:p.Ala4490Val					AHNAK2_ENST00000557457.1_Intron	p.A4490V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13588	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4490					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13469C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	A	4.162	0.028622	0.08054	.	.	ENSG00000185567	ENST00000333244	T	0.00958	5.5	3.6	1.02	0.19986	.	0.505334	0.13604	N	0.375608	T	0.00440	0.0014	N	0.04275	-0.24	0.09310	N	1	P	0.40931	0.733	B	0.31390	0.129	T	0.49826	-0.8898	10	0.35671	T	0.21	-2.8578	3.0753	0.06245	0.3547:0.0:0.381:0.2643	.	4490	Q8IVF2	AHNK2_HUMAN	V	4490	ENSP00000353114:A4490V	ENSP00000353114:A4490V	A	-	2	0	AHNAK2	104479364	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	-0.141000	0.11374	-1.028000	0.02416	GCG		0.572	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		198	846	0	0	0	1	0	198	846				
AVPR2	554	broad.mit.edu	37	X	153172136	153172136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153172136C>A	ENST00000358927.2	+	4	1279	c.1070C>A	c.(1069-1071)tCc>tAc	p.S357Y	AVPR2_ENST00000337474.5_Missense_Mutation_p.S357Y|ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	357					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAAGATGAGTCCTGCACCACC	0.602																																						ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(1069-1071)tCc>tAc		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						47.0	44.0	45.0					X																	153172136		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153172136C>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.1070C>A	X.37:g.153172136C>A	ENSP00000351805:p.Ser357Tyr					AVPR2_ENST00000337474.5_Missense_Mutation_p.S357Y|AVPR2_ENST00000370049.1_3'UTR	p.S357Y			P30518	V2R_HUMAN			4	1279	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		357					C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.1070C>A	CCDS14735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.76|13.76	2.334503|2.334503	0.41297|0.41297	.|.	.|.	ENSG00000126895|ENSG00000126895	ENST00000430697|ENST00000358927;ENST00000337474	T|T;T	0.77489|0.76578	-1.1|-1.03;-1.03	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.370985	.|0.27986	.|N	.|0.017046	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.72894|0.72894	2.215|2.215	0.41268|0.41268	D|D	0.986824|0.986824	.|D	.|0.76494	.|0.999	.|D	.|0.65987	.|0.94	D|D	0.88426|0.88426	0.3032|0.3032	7|10	0.56958|0.87932	D|D	0.05|0	-8.3004|-8.3004	15.0865|15.0865	0.72158|0.72158	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|357	.|P30518	.|V2R_HUMAN	T|Y	328|357	ENSP00000393513:P328T|ENSP00000351805:S357Y;ENSP00000338072:S357Y	ENSP00000393513:P328T|ENSP00000338072:S357Y	P|S	+|+	1|2	0|0	AVPR2|AVPR2	152825330|152825330	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.240000|0.240000	0.25518|0.25518	6.638000|6.638000	0.74309|0.74309	1.880000|1.880000	0.54463|0.54463	0.418000|0.418000	0.28097|0.28097	CCT|TCC		0.602	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			98	243	1	0	7.43734e-37	1	8.91631e-37	98	243				
DERL3	91319	broad.mit.edu	37	22	24177042	24177042	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24177042G>A	ENST00000318109.7	-	0	860				DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000406855.3_Missense_Mutation_p.T231M|DERL3_ENST00000404056.1_3'UTR			Q96Q80	DERL3_HUMAN	derlin 3						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CTCTCCTGCCGTCCCTGGGCC	0.652																																						ENST00000406855.3																			0				ovary(1)|prostate(1)|skin(1)	3						c.(691-693)aCg>aTg		derlin 3							48.0	50.0	49.0					22																	24177042		1568	3582	5150	SO:0001628	intergenic_variant	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24177042G>A	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743		22.37:g.24177042G>A						DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000404056.1_3'UTR	p.T231M	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN			7	710	-			0					F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	c.692C>T	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	G	6.864	0.528669	0.13127	.	.	ENSG00000099958	ENST00000406855	T	0.23552	1.9	1.86	-1.97	0.07503	.	.	.	.	.	T	0.13670	0.0331	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26677	-1.0096	8	0.33141	T	0.24	.	5.3542	0.16051	0.6403:0.0:0.3597:0.0	.	231	Q96Q80-2	.	M	231	ENSP00000384744:T231M	ENSP00000384744:T231M	T	-	2	0	DERL3	22507042	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.563000	0.05943	-0.446000	0.07149	0.196000	0.17591	ACG		0.652	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		43	203	0	0	0	1	0	43	203				
NCKAP1L	3071	broad.mit.edu	37	12	54920455	54920455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54920455G>A	ENST00000293373.6	+	21	2379	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	767					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R767H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGAGTCATCCGCAACGCCCTC	0.512																																						ENST00000293373.6																			1	Substitution - Missense(1)	p.R767H(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2299-2301)cGc>cAc		NCK-associated protein 1-like							123.0	102.0	109.0					12																	54920455		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54920455G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2300G>A	12.37:g.54920455G>A	ENSP00000293373:p.Arg767His					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	p.R767H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			21	2379	+			767					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2300G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992832	0.74703	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35789	1.29;1.29	4.99	4.99	0.66335	.	0.122415	0.53938	D	0.000041	T	0.47655	0.1457	L	0.40543	1.245	0.37591	D	0.920173	D	0.71674	0.998	P	0.59825	0.864	T	0.53180	-0.8475	10	0.56958	D	0.05	-14.0375	16.1445	0.81555	0.0:0.0:1.0:0.0	.	767	P55160	NCKPL_HUMAN	H	767;717	ENSP00000293373:R767H;ENSP00000445596:R717H	ENSP00000293373:R767H	R	+	2	0	NCKAP1L	53206722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	2.479000	0.83701	0.561000	0.74099	CGC		0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		37	230	0	0	0	1	0	37	230				
SPEM1	374768	broad.mit.edu	37	17	7324541	7324541	+	Missense_Mutation	SNP	C	C	T	rs376973970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7324541C>T	ENST00000323675.3	+	3	572	c.547C>T	c.(547-549)Cct>Tct	p.P183S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	183					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCGCTTCCAGCCTACCGTAGA	0.617																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(547-549)Cct>Tct		spermatid maturation 1							42.0	46.0	45.0					17																	7324541		1933	4120	6053	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324541C>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.547C>T	17.37:g.7324541C>T	ENSP00000315554:p.Pro183Ser					RP11-104H15.7_ENST00000575310.1_RNA	p.P183S	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			3	572	+		Prostate(122;0.173)	183						Missense_Mutation	SNP	ENST00000323675.3	37	c.547C>T	CCDS42254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.428|6.428	0.447118|0.447118	0.12223|0.12223	.|.	.|.	ENSG00000181323|ENSG00000181323	ENST00000323383|ENST00000323675	.|.	.|.	.|.	5.77|5.77	-0.132|-0.132	0.13489|0.13489	.|.	.|1.207430	.|0.06081	.|N	.|0.661900	.|T	.|0.29389	.|0.0732	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.13594	.|0.008	.|B	.|0.12156	.|0.007	.|T	.|0.26643	.|-1.0097	.|9	.|0.42905	.|T	.|0.14	.|-0.5037	6.5152|6.5152	0.22244|0.22244	0.0:0.3983:0.4283:0.1734|0.0:0.3983:0.4283:0.1734	.|.	.|183	.|Q8N4L4	.|SPEM1_HUMAN	.|S	-1|183	.|.	.|ENSP00000315554:P183S	.|P	+|+	.|1	.|0	SPEM1|SPEM1	7265265|7265265	0.001000|0.001000	0.12720|0.12720	0.055000|0.055000	0.19348|0.19348	0.003000|0.003000	0.03518|0.03518	-0.510000|-0.510000	0.06328|0.06328	-0.208000|-0.208000	0.10171|0.10171	-0.150000|-0.150000	0.13652|0.13652	.|CCT		0.617	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		34	201	0	0	0	1	0	34	201				
MICAL3	57553	broad.mit.edu	37	22	18385498	18385498	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18385498T>C	ENST00000441493.2	-	4	840	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	163	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGTATTAGTTGGAGCTGACG	0.502																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(487-489)cAa>cGa		microtubule associated monooxygenase, calponin and LIM domain containing 3							103.0	91.0	95.0					22																	18385498		1568	3581	5149	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18385498T>C	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.488A>G	22.37:g.18385498T>C	ENSP00000416015:p.Gln163Arg					MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R	p.Q163R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	4	840	-		all_epithelial(15;0.198)	163					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.488A>G	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633749	0.87660	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09;3.09	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.93197	3.39	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;0.996	D;D;D;D;D	0.97110	0.999;0.985;1.0;1.0;0.985	T	0.54715	-0.8252	10	0.87932	D	0	.	16.2169	0.82237	0.0:0.0:0.0:1.0	.	163;163;163;163;163	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	R	163	ENSP00000416015:Q163R;ENSP00000414846:Q163R;ENSP00000383406:Q163R;ENSP00000410315:Q163R;ENSP00000391827:Q163R;ENSP00000372574:Q163R;ENSP00000207726:Q163R	ENSP00000207726:Q163R	Q	-	2	0	XXbac-B461K10.4;MICAL3	16765498	1.000000	0.71417	0.937000	0.37676	0.841000	0.47740	8.036000	0.88901	2.223000	0.72356	0.533000	0.62120	CAA		0.502	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			7	45	0	0	0	1	0	7	45				
IKZF1	10320	broad.mit.edu	37	7	50444451	50444451	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444451C>T	ENST00000331340.3	+	4	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Silent_p.I127I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	127					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCATTTGCATCGGGCCCAATG	0.517			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(379-381)atC>atT		IKAROS family zinc finger 1 (Ikaros)							64.0	65.0	65.0					7																	50444451		1947	4158	6105	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50444451C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.381C>T	7.37:g.50444451C>T						IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000440768.2_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Silent_p.I127I	p.I127I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			4	536	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	127					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.381C>T																																																																																					0.517	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		39	198	0	0	0	1	0	39	198				
DLG2	1740	broad.mit.edu	37	11	84634141	84634141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84634141C>T	ENST00000532653.1	-	1	324	c.22G>A	c.(22-24)Gca>Aca	p.A8T	DLG2_ENST00000398309.2_Missense_Mutation_p.A8T|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Missense_Mutation_p.A8T|DLG2_ENST00000376104.2_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCCGGAGTGCACAGTAACAT	0.493																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(22-24)Gca>Aca		discs, large homolog 2 (Drosophila)							68.0	71.0	70.0					11																	84634141		2081	4219	6300	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84634141C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.22G>A	11.37:g.84634141C>T	ENSP00000435849:p.Ala8Thr					DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Missense_Mutation_p.A8T|DLG2_ENST00000532653.1_Missense_Mutation_p.A8T|DLG2_ENST00000376104.2_Intron	p.A8T	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			1	492	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	8					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.22G>A		.	.	.	.	.	.	.	.	.	.	C	13.68	2.308491	0.40895	.	.	ENSG00000150672	ENST00000398309;ENST00000524982;ENST00000532653	T;T;T	0.12984	2.68;2.68;2.63	5.95	5.95	0.96441	.	.	.	.	.	T	0.20129	0.0484	N	0.14661	0.345	0.80722	D	1	P;B;B	0.49447	0.924;0.032;0.019	P;B;B	0.57776	0.827;0.017;0.028	T	0.05419	-1.0886	8	.	.	.	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	8;8;8	B7Z2T4;E9PN83;Q15700	.;.;DLG2_HUMAN	T	8	ENSP00000381355:A8T;ENSP00000432894:A8T;ENSP00000435849:A8T	.	A	-	1	0	DLG2	84311789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.821000	0.97095	0.650000	0.86243	GCA		0.493	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		40	218	0	0	0	1	0	40	218				
KMT2D	8085	broad.mit.edu	37	12	49420873	49420873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420873G>A	ENST00000301067.7	-	48	14875	c.14876C>T	c.(14875-14877)gCc>gTc	p.A4959V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4959	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTTGGGTCGGGCTGATTCAGG	0.637																																						ENST00000301067.7																			0											c.(14875-14877)gCc>gTc		lysine (K)-specific methyltransferase 2D							52.0	60.0	57.0					12																	49420873		1928	4139	6067	SO:0001583	missense	8085							g.chr12:49420873G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14876C>T	12.37:g.49420873G>A	ENSP00000301067:p.Ala4959Val						p.A4959V	NM_003482.3	NP_003473.3					48	14875	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14876C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030638	0.35797	.	.	ENSG00000167548	ENST00000301067	T	0.78816	-1.21	4.09	4.09	0.47781	.	0.747332	0.11023	N	0.608118	T	0.58722	0.2142	N	0.02315	-0.6	0.36216	D	0.851678	B	0.20052	0.041	B	0.14023	0.01	T	0.61347	-0.7081	10	0.87932	D	0	.	15.6199	0.76799	0.0:0.0:1.0:0.0	.	4959	O14686	MLL2_HUMAN	V	4959	ENSP00000301067:A4959V	ENSP00000301067:A4959V	A	-	2	0	MLL2	47707140	1.000000	0.71417	0.928000	0.36995	0.966000	0.64601	6.688000	0.74557	2.288000	0.76882	0.557000	0.71058	GCC		0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			84	466	0	0	0	1	0	84	466				
SLC29A4	222962	broad.mit.edu	37	7	5339001	5339001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5339001C>T	ENST00000396872.3	+	9	1313	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	384					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GCATCCTGGGCGAGTGGCTGC	0.642																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(1150-1152)ggC>ggT		solute carrier family 29 (equilibrative nucleoside transporter), member 4							60.0	42.0	48.0					7																	5339001		2203	4300	6503	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5339001C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1152C>T	7.37:g.5339001C>T						SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000439491.2_3'UTR	p.G384G	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	9	1313	+		Ovarian(82;0.0175)	384					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.1152C>T	CCDS5340.1																																																																																				0.642	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		21	212	0	0	0	1	0	21	212				
DAW1	164781	broad.mit.edu	37	2	228750066	228750066	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228750066G>T	ENST00000309931.2	+	2	123		c.e2-1		DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000373666.2_Splice_Site|SNORA25_ENST00000607153.1_RNA	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1							cilium (GO:0005929)											TATTTCTATAGGAATTATGTT	0.303																																						ENST00000373666.2																			0											c.e2-1		dynein assembly factor with WDR repeat domains 1							88.0	99.0	95.0					2																	228750066		2203	4300	6503	SO:0001630	splice_region_variant	164781							g.chr2:228750066G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.41-1G>T	2.37:g.228750066G>T						DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000309931.2_Splice_Site								2	676	+								Q6ZRY1|Q8N776	Splice_Site	SNP	ENST00000309931.2	37		CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034524	0.75617	.	.	ENSG00000123977	ENST00000373666;ENST00000309931	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9351	0.86201	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR69	228458310	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	8.283000	0.89909	2.577000	0.86979	0.655000	0.94253	.		0.303	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	Intron	6	301	1	0	5.18039e-06	1	5.32547e-06	6	301				
ZNF596	169270	broad.mit.edu	37	8	192901	192901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:192901C>T	ENST00000398612.1	+	3	410	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ZNF596_ENST00000308811.4_Silent_p.F9F|ZNF596_ENST00000320552.2_Silent_p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CCATGACCTTCGAGGATATCA	0.438																																						ENST00000398612.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14						c.(25-27)ttC>ttT		zinc finger protein 596							138.0	121.0	127.0					8																	192901		2203	4300	6503	SO:0001819	synonymous_variant	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:192901C>T	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.27C>T	8.37:g.192901C>T						ZNF596_ENST00000320552.2_Silent_p.F9F|ZNF596_ENST00000522866.1_3'UTR|ZNF596_ENST00000308811.4_Silent_p.F9F	p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	3	410	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	9			KRAB.		B2R8P4|O95015|Q8N9X0	Silent	SNP	ENST00000398612.1	37	c.27C>T	CCDS5951.2																																																																																				0.438	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		28	189	0	0	0	1	0	28	189				
SEC63	11231	broad.mit.edu	37	6	108227665	108227665	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108227665C>T	ENST00000369002.4	-	10	1127	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	316	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTCAAGGGTCTCAGGAATTT	0.388																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(946-948)gaG>gaA		SEC63 homolog (S. cerevisiae)							109.0	115.0	113.0					6																	108227665		2203	4300	6503	SO:0001819	synonymous_variant	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108227665C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.948G>A	6.37:g.108227665C>T							p.E316E	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	10	1127	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	316			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Silent	SNP	ENST00000369002.4	37	c.948G>A	CCDS5061.1																																																																																				0.388	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		95	477	0	0	0	1	0	95	477				
MAGEA11	4110	broad.mit.edu	37	X	148797891	148797891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797891C>A	ENST00000355220.5	+	5	847	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCAGAAATGCTGGGGAGTGT	0.413																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(745-747)Ctg>Atg		melanoma antigen family A, 11							108.0	110.0	109.0					X																	148797891		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797891C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.745C>A	X.37:g.148797891C>A	ENSP00000347358:p.Leu249Met					MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	p.L249M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	847	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		249			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.745C>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	8.490	0.861790	0.17178	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.06068	3.35;3.35;3.35	0.976	0.0829	0.14431	.	.	.	.	.	T	0.18341	0.0440	M	0.80028	2.48	0.09310	N	1	D;D	0.63880	0.984;0.993	P;D	0.66196	0.904;0.942	T	0.09530	-1.0670	9	0.59425	D	0.04	.	3.3012	0.06984	0.0:0.6881:0.0:0.3119	.	220;249	G5E962;P43364	.;MAGAB_HUMAN	M	220;220;249	ENSP00000391496:L220M;ENSP00000328177:L220M;ENSP00000347358:L249M	ENSP00000328177:L220M	L	+	1	2	MAGEA11	148576514	0.432000	0.25554	0.004000	0.12327	0.059000	0.15707	-0.191000	0.09601	-0.041000	0.13558	-0.426000	0.05927	CTG		0.413	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		146	561	1	0	1.15969e-74	1	1.47797e-74	146	561				
DLGAP4	22839	broad.mit.edu	37	20	35128676	35128676	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128676G>T	ENST00000373907.2	+	9	2373	c.2174G>T	c.(2173-2175)aGc>aTc	p.S725I	DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000373913.3_Missense_Mutation_p.S722I|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	725					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AATGACTCAAGCTGTAAGTCA	0.612																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2164-2166)aGc>aTc		discs, large (Drosophila) homolog-associated protein 4							99.0	89.0	92.0					20																	35128676		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128676G>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2174G>T	20.37:g.35128676G>T	ENSP00000363014:p.Ser725Ile					DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I|DLGAP4_ENST00000373907.2_Missense_Mutation_p.S725I|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I	p.S722I			Q9Y2H0	DLGP4_HUMAN			10	2645	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	725					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2165G>T		.	.	.	.	.	.	.	.	.	.	G	11.96	1.794305	0.31777	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.24	5.24	0.73138	.	0.215365	0.48286	D	0.000190	T	0.50922	0.1644	M	0.61703	1.905	0.32240	N	0.572839	D;B;D;P	0.57571	0.98;0.027;0.968;0.818	P;B;P;B	0.52031	0.646;0.015;0.688;0.311	T	0.57562	-0.7790	10	0.21014	T	0.42	.	15.9964	0.80250	0.0:0.0:1.0:0.0	.	31;186;725;722	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	I	722;722;725;725;186	ENSP00000363023:S722I;ENSP00000384954:S722I;ENSP00000363014:S725I;ENSP00000341633:S725I;ENSP00000345700:S186I	ENSP00000341633:S725I	S	+	2	0	DLGAP4	34562090	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	2.939000	0.48995	2.448000	0.82819	0.650000	0.86243	AGC		0.612	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		67	282	1	0	1.84395e-34	1	2.19361e-34	67	282				
PIK3C3	5289	broad.mit.edu	37	18	39623705	39623705	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39623705T>A	ENST00000262039.4	+	20	2198	c.2112T>A	c.(2110-2112)ttT>ttA	p.F704L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	704	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAACTTTTTTAGAAAATATG	0.338										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(2110-2112)ttT>ttA		phosphatidylinositol 3-kinase, catalytic subunit type 3							107.0	104.0	105.0					18																	39623705		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39623705T>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2112T>A	18.37:g.39623705T>A	ENSP00000262039:p.Phe704Leu	TSP Lung(28;0.18)				PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L	p.F704L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			20	2198	+			704			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2112T>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	9.354	1.066183	0.20067	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.83075	-1.68;-1.68	5.46	-1.11	0.09840	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.177758	0.50627	D	0.000117	T	0.61060	0.2317	N	0.15975	0.35	0.80722	D	1	B;P;B	0.39576	0.019;0.679;0.016	B;B;B	0.36666	0.037;0.23;0.011	T	0.48927	-0.8991	9	.	.	.	.	5.5724	0.17204	0.1396:0.4296:0.0:0.4308	.	641;641;704	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	L	704;641	ENSP00000262039:F704L;ENSP00000381845:F641L	.	F	+	3	2	PIK3C3	37877703	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.018000	0.30002	-0.112000	0.11979	0.528000	0.53228	TTT		0.338	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		78	281	0	0	0	1	0	78	281				
ZNF318	24149	broad.mit.edu	37	6	43308239	43308239	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43308239T>G	ENST00000361428.2	-	10	3574	c.3497A>C	c.(3496-3498)aAa>aCa	p.K1166T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1166					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATCCACATATTTCTGGGAAGA	0.448																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.e10-1		zinc finger protein 318							21.0	22.0	22.0					6																	43308239		2024	4166	6190	SO:0001630	splice_region_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43308239T>G	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3496-1A>C	6.37:g.43308239T>G						ZNF318_ENST00000318149.3_Intron	p.K1166_splice	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	3574	-			1166					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Splice_Site	SNP	ENST00000361428.2	37	c.3495_splice	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172794	0.57584	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	Zinc finger, U1-type (1);	0.118294	0.56097	D	0.000028	T	0.65344	0.2682	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69971	-0.5000	10	0.72032	D	0.01	-9.9518	15.9526	0.79855	0.0:0.0:0.0:1.0	.	1166	Q5VUA4	ZN318_HUMAN	T	1166	ENSP00000354964:K1166T	ENSP00000354964:K1166T	K	-	2	0	ZNF318	43416217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.399000	0.59703	2.168000	0.68352	0.533000	0.62120	AAA		0.448	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	Missense_Mutation	22	182	0	0	0	1	0	22	182				
STAB2	55576	broad.mit.edu	37	12	104157272	104157272	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104157272G>A	ENST00000388887.2	+	68	7695	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.S2497S(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAACAGTCGGAAGAGGACA	0.527																																						ENST00000388887.2																			1	Substitution - coding silent(1)	p.S2497S(1)	lung(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(7489-7491)tcG>tcA		stabilin 2							250.0	244.0	246.0					12																	104157272		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104157272G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7491G>A	12.37:g.104157272G>A						RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	p.S2497S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			68	7695	+			2497						Silent	SNP	ENST00000388887.2	37	c.7491G>A	CCDS31888.1																																																																																				0.527	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			332	1035	0	0	0	1	0	332	1035				
SERPINE1	5054	broad.mit.edu	37	7	100777156	100777156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100777156G>A	ENST00000223095.4	+	5	1038	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	294					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGGCTGCCCCGCCTCCTGGTT	0.592																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(880-882)cGc>cAc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						98.0	85.0	90.0					7																	100777156		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100777156G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.881G>A	7.37:g.100777156G>A	ENSP00000223095:p.Arg294His					SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279H	p.R294H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			5	1038	+	Lung NSC(181;0.136)|all_lung(186;0.182)		294					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.881G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287680	0.80803	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.21932	1.98;1.98	5.47	5.47	0.80525	Serpin domain (3);	0.061905	0.64402	D	0.000010	T	0.43233	0.1238	L	0.54323	1.7	0.48571	D	0.999676	D;D	0.89917	1.0;1.0	D;D	0.76575	0.977;0.988	T	0.14643	-1.0465	10	0.59425	D	0.04	.	17.1908	0.86879	0.0:0.0:1.0:0.0	.	279;294	F8WD53;P05121	.;PAI1_HUMAN	H	294;279;71	ENSP00000223095:R294H;ENSP00000396766:R279H	ENSP00000223095:R294H	R	+	2	0	SERPINE1	100563876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.424000	0.66464	2.724000	0.93272	0.561000	0.74099	CGC		0.592	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		30	289	0	0	0	1	0	30	289				
JAK3	3718	broad.mit.edu	37	19	17945726	17945726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945726C>T	ENST00000527670.1	-	15	2163	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	JAK3_ENST00000534444.1_Missense_Mutation_p.G712S|JAK3_ENST00000458235.1_Missense_Mutation_p.G712S			P52333	JAK3_HUMAN	Janus kinase 3	712	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ACCGTGGCGCCGAAGCCCCAC	0.622		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2134-2136)Ggc>Agc		Janus kinase 3							69.0	73.0	72.0					19																	17945726		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945726C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2134G>A	19.37:g.17945726C>T	ENSP00000432511:p.Gly712Ser					JAK3_ENST00000527670.1_Missense_Mutation_p.G712S|JAK3_ENST00000534444.1_Missense_Mutation_p.G712S	p.G712S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			16	2233	-			712			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2134G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983442	0.93044	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.87571	-2.27;-2.27;-2.27	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.78314	0.991;0.871	D	0.96490	0.9363	10	0.87932	D	0	-18.3596	15.5458	0.76097	0.0:1.0:0.0:0.0	.	712;712	P52333-2;P52333	.;JAK3_HUMAN	S	712	ENSP00000391676:G712S;ENSP00000432511:G712S;ENSP00000436421:G712S	ENSP00000391676:G712S	G	-	1	0	JAK3	17806726	1.000000	0.71417	0.918000	0.36340	0.887000	0.51463	7.375000	0.79646	2.255000	0.74692	0.555000	0.69702	GGC		0.622	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		56	501	0	0	0	1	0	56	501				
DPP10	57628	broad.mit.edu	37	2	116066831	116066831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116066831G>A	ENST00000410059.1	+	2	557	c.77G>A	c.(76-78)aGc>aAc	p.S26N	DPP10_ENST00000310323.8_Missense_Mutation_p.S19N|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAAGTAACAGCCCTCCACAG	0.408																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(76-78)aGc>aAc		dipeptidyl-peptidase 10 (non-functional)							185.0	171.0	176.0					2																	116066831		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066831G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.77G>A	2.37:g.116066831G>A	ENSP00000386565:p.Ser26Asn					DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N|DPP10_ENST00000310323.8_Missense_Mutation_p.S19N	p.S26N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	557	+			26			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.77G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136495	0.06711	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	N	0.25245	0.725	0.43267	D	0.995217	B;B;B;B	0.18610	0.029;0.0;0.008;0.014	B;B;B;B	0.23018	0.043;0.002;0.013;0.013	T	0.08472	-1.0720	10	0.02654	T	1	-1.0384	13.8543	0.63517	0.0735:0.0:0.9265:0.0	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	26;22;30;19	ENSP00000386565:S26N;ENSP00000376854:S22N;ENSP00000376855:S30N;ENSP00000309066:S19N	ENSP00000309066:S19N	S	+	2	0	DPP10	115783301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.471000	0.45127	1.375000	0.46248	0.655000	0.94253	AGC		0.408	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		54	182	0	0	0	1	0	54	182				
THOC2	57187	broad.mit.edu	37	X	122755365	122755365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122755365C>A	ENST00000245838.8	-	31	3890	c.3859G>T	c.(3859-3861)Gct>Tct	p.A1287S	THOC2_ENST00000491737.1_Missense_Mutation_p.A1172S|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Missense_Mutation_p.A1287S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1287	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGAGTAGTAGCTGGAGtcttt	0.358																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3859-3861)Gct>Tct		THO complex 2							117.0	100.0	105.0					X																	122755365		1808	4064	5872	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122755365C>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3859G>T	X.37:g.122755365C>A	ENSP00000245838:p.Ala1287Ser					THOC2_ENST00000355725.4_Missense_Mutation_p.A1287S|THOC2_ENST00000491737.1_Missense_Mutation_p.A1172S	p.A1287S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			31	3890	-			1287			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3859G>T	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.311160|1.311160	0.23821|0.23821	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000441692	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.05|5.05	3.29|3.29	0.37713|0.37713	.|.	0.182458|.	0.37437|.	N|.	0.002099|.	T|T	0.38188|0.38188	0.1031|0.1031	N|N	0.17082|0.17082	0.46|0.46	0.39160|0.39160	D|D	0.962395|0.962395	B|.	0.20368|.	0.044|.	B|.	0.19148|.	0.024|.	T|T	0.13737|0.13737	-1.0498|-1.0498	10|5	0.02654|.	T|.	1|.	-2.7332|-2.7332	9.2462|9.2462	0.37527|0.37527	0.0:0.7591:0.0:0.2409|0.0:0.7591:0.0:0.2409	.|.	1287|.	Q8NI27|.	THOC2_HUMAN|.	S|H	1287;1287;1172|54	ENSP00000245838:A1287S;ENSP00000347959:A1287S;ENSP00000419795:A1172S|.	ENSP00000245838:A1287S|.	A|Q	-|-	1|3	0|2	THOC2|THOC2	122583046|122583046	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	4.594000|4.594000	0.61041|0.61041	0.479000|0.479000	0.27511|0.27511	0.600000|0.600000	0.82982|0.82982	GCT|CAG		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			118	338	1	0	7.8952e-62	1	9.94632e-62	118	338				
GJA5	2702	broad.mit.edu	37	1	147230480	147230480	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147230480G>T	ENST00000271348.2	-	2	1028	c.867C>A	c.(865-867)tcC>tcA	p.S289S	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.S289S	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	289					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.S289S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGTTTTGTTGGGAGGCCATAT	0.532																																						ENST00000271348.2																			1	Substitution - coding silent(1)	p.S289S(1)	lung(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(865-867)tcC>tcA		gap junction protein, alpha 5, 40kDa							153.0	149.0	150.0					1																	147230480		2203	4300	6503	SO:0001819	synonymous_variant	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230480G>T		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.867C>A	1.37:g.147230480G>T						RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.S289S	p.S289S	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	1028	-	all_hematologic(923;0.0276)		289					Q5T3B6|Q5U0N6	Silent	SNP	ENST00000271348.2	37	c.867C>A	CCDS929.1																																																																																				0.532	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		139	503	1	0	1.56226e-53	1	1.94757e-53	139	503				
ADCY5	111	broad.mit.edu	37	3	123047580	123047580	+	Silent	SNP	G	G	A	rs374468564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123047580G>A	ENST00000462833.1	-	6	2928	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000491190.1_Silent_p.C205C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	572	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAAGGACACCGCAGTGTACTC	0.592											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1714-1716)tgC>tgT		adenylate cyclase 5							178.0	139.0	152.0					3																	123047580		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123047580G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1716C>T	3.37:g.123047580G>A			OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1523	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000491190.1_Silent_p.C205C	p.C572C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	6	2928	-			572			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1716C>T	CCDS3022.1																																																																																				0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		79	353	0	0	0	1	0	79	353				
RALGAPA1	253959	broad.mit.edu	37	14	36041836	36041836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36041836C>T	ENST00000389698.3	-	37	6170	c.5780G>A	c.(5779-5781)gGt>gAt	p.G1927D	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1974D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1927	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGGACATCACCAAATTCTGT	0.348																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5920-5922)gGt>gAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							109.0	109.0	109.0					14																	36041836		2203	4297	6500	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36041836C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5780G>A	14.37:g.36041836C>T	ENSP00000374348:p.Gly1927Asp					RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.G1927D	p.G1974D			Q6GYQ0	RGPA1_HUMAN			38	6311	-			1927			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5921G>A	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715974|4.715974	0.89205|0.89205	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.93763|.	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71187|0.71187	0.3310|0.3310	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.992;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.928;0.998|.	T|T	0.69038|0.69038	-0.5251|-0.5251	10|5	0.42905|.	T|.	0.14|.	-13.561|-13.561	18.6419|18.6419	0.91398|0.91398	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1974;1940;1927;1927|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	D|M	1927;1927;1927;1974;565;1940;1974|210	ENSP00000374348:G1927D;ENSP00000302647:G1927D;ENSP00000258840:G1974D;ENSP00000451133:G565D;ENSP00000371803:G1940D;ENSP00000451877:G1974D|.	ENSP00000258840:G1974D|.	G|V	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35111587|35111587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.403000|2.403000	0.81681|0.81681	0.460000|0.460000	0.39030|0.39030	GGT|GTG		0.348	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		71	304	0	0	0	1	0	71	304				
BRPF1	7862	broad.mit.edu	37	3	9783725	9783725	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9783725T>A	ENST00000457855.1	+	5	1882	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	BRPF1_ENST00000424362.1_Missense_Mutation_p.I624N|BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N|BRPF1_ENST00000383829.2_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	624	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTTCAGCAGATTGCCATGGAG	0.542																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1870-1872)aTt>aAt		bromodomain and PHD finger containing, 1							71.0	69.0	70.0					3																	9783725		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9783725T>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1871T>A	3.37:g.9783725T>A	ENSP00000410210:p.Ile624Asn					BRPF1_ENST00000424362.1_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N|BRPF1_ENST00000457855.1_Missense_Mutation_p.I624N|BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N	p.I624N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			6	2275	+	Medulloblastoma(99;0.227)		624			Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1871T>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407974	0.25378	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.15372	2.43;2.43;3.82;2.43;2.43	5.19	5.19	0.71726	Bromodomain (1);	0.205038	0.51477	D	0.000084	T	0.12220	0.0297	N	0.08118	0	0.39313	D	0.965114	B;B;B;B	0.24186	0.099;0.002;0.001;0.001	B;B;B;B	0.35688	0.208;0.007;0.001;0.003	T	0.29882	-0.9997	10	0.19590	T	0.45	.	15.3474	0.74350	0.0:0.0:0.0:1.0	.	624;624;624;624	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	N	624	ENSP00000402485:I624N;ENSP00000398863:I624N;ENSP00000373340:I624N;ENSP00000306297:I624N;ENSP00000410210:I624N	ENSP00000306297:I624N	I	+	2	0	BRPF1	9758725	1.000000	0.71417	0.982000	0.44146	0.659000	0.38960	5.127000	0.64727	2.074000	0.62210	0.460000	0.39030	ATT		0.542	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		40	220	0	0	0	1	0	40	220				
ZKSCAN7	55888	broad.mit.edu	37	3	44612305	44612305	+	Missense_Mutation	SNP	G	G	A	rs147008651	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44612305G>A	ENST00000273320.3	+	6	2132	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R568Q|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	568					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTCTTATTCGACATCAGAGC	0.428													.|||	2	0.000399361	0.0015	0.0	5008	,	,		18871	0.0		0.0	False		,,,				2504	0.0					ENST00000273320.3																			0											c.(1702-1704)cGa>cAa		zinc finger with KRAB and SCAN domains 7							90.0	90.0	90.0					3																	44612305		2203	4300	6503	SO:0001583	missense	55888							g.chr3:44612305G>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1703G>A	3.37:g.44612305G>A	ENSP00000273320:p.Arg568Gln					ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R568Q|RP11-944L7.4_ENST00000457331.1_RNA	p.R568Q	NM_018651.2	NP_061121.2					6	2132	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1703G>A	CCDS2715.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	.	10.42	1.346322	0.24426	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.26223	1.75;1.75	4.21	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.348037	0.16505	N	0.211495	T	0.09862	0.0242	L	0.31526	0.94	0.09310	N	0.999999	B	0.25609	0.13	B	0.17979	0.02	T	0.26360	-1.0105	10	0.09084	T	0.74	-4.0189	7.4684	0.27334	0.2833:0.0:0.7167:0.0	.	568	Q9P0L1	ZN167_HUMAN	Q	568;568;6	ENSP00000395524:R568Q;ENSP00000273320:R568Q	ENSP00000273320:R568Q	R	+	2	0	ZNF167	44587309	0.000000	0.05858	1.000000	0.80357	0.894000	0.52154	-2.636000	0.00867	0.996000	0.38943	0.655000	0.94253	CGA		0.428	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		25	431	0	0	0	1	0	25	431				
SND1	27044	broad.mit.edu	37	7	127727023	127727023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127727023C>A	ENST00000354725.3	+	21	2532	c.2338C>A	c.(2338-2340)Cta>Ata	p.L780I		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	780	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGGTACCCTATCACCTGC	0.597																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2338-2340)Cta>Ata		staphylococcal nuclease and tudor domain containing 1							130.0	92.0	105.0					7																	127727023		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127727023C>A		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2338C>A	7.37:g.127727023C>A	ENSP00000346762:p.Leu780Ile						p.L780I	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			21	2532	+			780			Tudor.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.2338C>A	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378334	0.42207	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.10099	2.91	5.96	2.77	0.32553	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);Maternal tudor protein (1);Tudor domain (1);	0.194552	0.45126	D	0.000396	T	0.09468	0.0233	L	0.33189	0.99	0.45378	D	0.998361	B	0.21309	0.054	B	0.35727	0.209	T	0.20672	-1.0268	10	0.26408	T	0.33	-7.5627	5.9818	0.19411	0.1567:0.6661:0.0:0.1772	.	780	Q7KZF4	SND1_HUMAN	I	780;770	ENSP00000346762:L780I	ENSP00000346762:L780I	L	+	1	2	SND1	127514259	0.994000	0.37717	0.967000	0.41034	0.808000	0.45660	2.872000	0.48467	0.862000	0.35528	0.655000	0.94253	CTA		0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		50	309	1	0	2.47907e-22	1	2.80423e-22	50	309				
ZNF587B	100293516	broad.mit.edu	37	19	58353296	58353296	+	Intron	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58353296T>G	ENST00000442832.4	+	3	1356				CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Silent_p.S418S|ZNF587B_ENST00000316462.4_Intron	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GTGGGAAATCTTTTAATGAAA	0.428																																						ENST00000594901.1																			0											c.(1252-1254)tcT>tcG		zinc finger protein 587B																																				SO:0001627	intron_variant	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58353296T>G	AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.1122+132T>G	19.37:g.58353296T>G						CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000442832.4_Intron	p.S418S			B4DR41	B4DR41_HUMAN			3	1470	+			334					B4DR41	Silent	SNP	ENST00000442832.4	37	c.1254T>G	CCDS56109.1																																																																																				0.428	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466834.2	NM_001204818		27	114	0	0	0	1	0	27	114				
CRACR2A	84766	broad.mit.edu	37	12	3789439	3789439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3789439C>T	ENST00000252322.1	-	5	773	c.305G>A	c.(304-306)gGc>gAc	p.G102D	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.G102D	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		102	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGTCAGATAGCCATTGCCATC	0.507																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(304-306)gGc>gAc		EF-hand calcium binding domain 4B							130.0	104.0	112.0					12																	3789439		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3789439C>T																												ENST00000252322.1:c.305G>A	12.37:g.3789439C>T	ENSP00000252322:p.Gly102Asp					EFCAB4B_ENST00000252322.1_Missense_Mutation_p.G102D|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D	p.G102D	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		5	778	-			102			EF-hand 2.		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.305G>A	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779219	0.90195	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	D;D;D	0.94232	-3.38;-1.77;-3.38	4.69	4.69	0.59074	EF-hand-like domain (1);	0.104583	0.64402	D	0.000004	D	0.97980	0.9335	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.99100	1.0843	10	0.87932	D	0	-32.3133	15.1607	0.72782	0.0:1.0:0.0:0.0	.	102;102;102	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	D	102	ENSP00000409382:G102D;ENSP00000412496:G102D;ENSP00000252322:G102D	ENSP00000252322:G102D	G	-	2	0	EFCAB4B	3659700	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.149000	0.77396	2.460000	0.83146	0.561000	0.74099	GGC		0.507	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			45	202	0	0	0	1	0	45	202				
ADAM9	8754	broad.mit.edu	37	8	38940233	38940233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38940233G>A	ENST00000487273.2	+	17	2033	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	652	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGTGTCATGGACATGGGGTA	0.358																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1954-1956)gGa>gAa		ADAM metallopeptidase domain 9							205.0	200.0	201.0					8																	38940233		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38940233G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1955G>A	8.37:g.38940233G>A	ENSP00000419446:p.Gly652Glu					ADAM9_ENST00000484143.1_3'UTR	p.G652E	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		17	2033	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	652			EGF-like.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1955G>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951111	0.92660	.	.	ENSG00000168615	ENST00000487273	D	0.97232	-4.3	5.61	5.61	0.85477	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052098	0.85682	D	0.000000	D	0.97688	0.9242	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	D	0.97468	1.0039	10	0.46703	T	0.11	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	652	Q13443	ADAM9_HUMAN	E	652	ENSP00000419446:G652E	ENSP00000369249:G652E	G	+	2	0	ADAM9	39059390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.846000	0.69444	2.803000	0.96430	0.650000	0.86243	GGA		0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			77	324	0	0	0	1	0	77	324				
SPEG	10290	broad.mit.edu	37	2	220355360	220355360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220355360C>A	ENST00000312358.7	+	37	9283	c.9151C>A	c.(9151-9153)Ctc>Atc	p.L3051I	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3051	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTGTGGGCTCAGTGACAG	0.617																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(9151-9153)Ctc>Atc		SPEG complex locus							74.0	82.0	79.0					2																	220355360		2058	4186	6244	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220355360C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9151C>A	2.37:g.220355360C>A	ENSP00000311684:p.Leu3051Ile					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.L3051I	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	37	9283	+		Renal(207;0.0183)	3051			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.9151C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863706	0.51482	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.34	4.34	0.51931	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.36665	N	0.002461	T	0.62295	0.2416	N	0.20357	0.565	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	T	0.57957	-0.7721	10	0.25751	T	0.34	.	7.4991	0.27507	0.1681:0.7426:0.0:0.0893	.	3051	Q15772	SPEG_HUMAN	I	3051	ENSP00000311684:L3051I	ENSP00000265327:L3051I	L	+	1	0	SPEG	220063604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.910000	0.56371	2.417000	0.82017	0.591000	0.81541	CTC		0.617	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		10	352	1	0	2.17888e-05	1	2.22852e-05	10	352				
RIPK4	54101	broad.mit.edu	37	21	43161377	43161377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161377C>T	ENST00000352483.2	-	9	2184	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	RIPK4_ENST00000332512.3_Missense_Mutation_p.R659Q|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	707					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCGCCCCGATGCAGGAG	0.672																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2119-2121)cGg>cAg		receptor-interacting serine-threonine kinase 4							42.0	44.0	44.0					21																	43161377		2203	4299	6502	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161377C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2120G>A	21.37:g.43161377C>T	ENSP00000330161:p.Arg707Gln					RIPK4_ENST00000332512.3_Missense_Mutation_p.R659Q|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q	p.R707Q			Q96T11	Q96T11_HUMAN			9	2184	-			659					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2120G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.525443|2.525443	0.44969|0.44969	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000330470|ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.|T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;-0.16	4.52|4.52	3.63|3.63	0.41609|0.41609	.|.	.|0.225320	.|0.30311	.|N	.|0.009918	T|T	0.50582|0.50582	0.1624|0.1624	L|L	0.28458|0.28458	0.855|0.855	0.36028|0.36028	D|D	0.839186|0.839186	.|D	.|0.56287	.|0.975	.|P	.|0.47891	.|0.56	T|T	0.53753|0.53753	-0.8394|-0.8394	6|10	0.87932|0.21540	D|T	0|0.41	-13.8925|-13.8925	8.2319|8.2319	0.31603|0.31603	0.0:0.7918:0.0:0.2082|0.0:0.7918:0.0:0.2082	.|.	.|659	.|P57078-2	.|.	R|Q	395|659;707;596;596	.|ENSP00000332454:R659Q;ENSP00000330161:R707Q;ENSP00000441754:R596Q;ENSP00000442901:R596Q	ENSP00000330975:G395R|ENSP00000332454:R659Q	G|R	-|-	1|2	0|0	RIPK4|RIPK4	42034446|42034446	0.778000|0.778000	0.28640|0.28640	0.842000|0.842000	0.33263|0.33263	0.561000|0.561000	0.35649|0.35649	1.287000|1.287000	0.33284|0.33284	0.882000|0.882000	0.36016|0.36016	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		50	380	0	0	0	1	0	50	380				
CSDE1	7812	broad.mit.edu	37	1	115272879	115272879	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272879C>A	ENST00000358528.4	-	12	1782	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	CSDE1_ENST00000438362.2_Splice_Site_p.K498N|CSDE1_ENST00000339438.6_Splice_Site_p.K421N|CSDE1_ENST00000369530.1_Splice_Site_p.K467N|CSDE1_ENST00000534699.1_Splice_Site_p.K452N|CSDE1_ENST00000530886.1_Splice_Site_p.K322N|CSDE1_ENST00000261443.5_Splice_Site_p.K421N|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	452	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACCTACCTTCTCTTTGC	0.373																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e12+1		cold shock domain containing E1, RNA-binding							138.0	142.0	141.0					1																	115272879		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272879C>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1356+1G>T	1.37:g.115272879C>A						CSDE1_ENST00000339438.6_Splice_Site_p.K421_splice|CSDE1_ENST00000369530.1_Splice_Site_p.K467_splice|CSDE1_ENST00000261443.5_Splice_Site_p.K421_splice|CSDE1_ENST00000358528.4_Splice_Site_p.K452_splice|CSDE1_ENST00000530886.1_Splice_Site_p.K322_splice|CSDE1_ENST00000534699.1_Splice_Site_p.K452_splice	p.K498_splice	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1872	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	452			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37	c.1494_splice	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412489	0.83340	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.85	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.989	D;D;D	0.80764	0.994;0.981;0.978	T	0.68387	-0.5422	8	.	.	.	-10.7055	14.8908	0.70606	0.0:0.9313:0.0:0.0687	.	467;452;498	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	N	421;498;452;421;322;467;452	.	.	K	-	3	2	CSDE1	115074402	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.448000	0.80631	1.472000	0.48140	0.655000	0.94253	AAG		0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Missense_Mutation	36	398	1	0	9.78485e-24	1	1.11444e-23	36	398				
LMX1B	4010	broad.mit.edu	37	9	129458652	129458652	+	Silent	SNP	C	C	T	rs529256518		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458652C>T	ENST00000373474.4	+	8	1138	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	LMX1B_ENST00000561065.1_Silent_p.D358D|LMX1B_ENST00000425646.2_Silent_p.D347D|LMX1B_ENST00000355497.5_Silent_p.D381D|LMX1B_ENST00000526117.1_Silent_p.D370D			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	377					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCTCCTCAGACGTGGGCTCCC	0.637									Nail-Patella Syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		14216	0.0		0.0	False		,,,				2504	0.001				Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(1141-1143)gaC>gaT		LIM homeobox transcription factor 1, beta							109.0	111.0	110.0					9																	129458652		2203	4300	6503	SO:0001819	synonymous_variant	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129458652C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.1131C>T	9.37:g.129458652C>T						LMX1B_ENST00000425646.2_Silent_p.D347D|LMX1B_ENST00000561065.1_Silent_p.D358D|LMX1B_ENST00000373474.4_Silent_p.D377D|LMX1B_ENST00000526117.1_Silent_p.D370D	p.D381D	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			8	1150	+			354					F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.1143C>T	CCDS55342.1																																																																																				0.637	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			35	1016	0	0	0	1	0	35	1016				
OTX1	5013	broad.mit.edu	37	2	63282778	63282778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63282778C>A	ENST00000282549.2	+	5	668	c.392C>A	c.(391-393)gCt>gAt	p.A131D	OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	131					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACGCCGCCAGCTGTGTCCAGC	0.677																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(391-393)gCt>gAt		orthodenticle homeobox 1							39.0	40.0	40.0					2																	63282778		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282778C>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.392C>A	2.37:g.63282778C>A	ENSP00000282549:p.Ala131Asp					OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	p.A131D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	668	+	Lung NSC(7;0.121)|all_lung(7;0.211)		131					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.392C>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838312	0.71373	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90676	-2.71;-2.71	3.69	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	L	0.54323	1.7	0.58432	D	0.999999	P	0.42757	0.789	B	0.42882	0.401	D	0.88174	0.2866	10	0.35671	T	0.21	.	14.6986	0.69139	0.0:1.0:0.0:0.0	.	131	P32242	OTX1_HUMAN	D	131	ENSP00000355631:A131D;ENSP00000282549:A131D	ENSP00000282549:A131D	A	+	2	0	OTX1	63136282	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	4.706000	0.61845	2.062000	0.61559	0.563000	0.77884	GCT		0.677	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			86	266	1	0	5.56462e-29	1	6.49283e-29	86	266				
OSBPL3	26031	broad.mit.edu	37	7	24888729	24888729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24888729C>T	ENST00000313367.2	-	12	1676	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	409					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCGGGGGAGTCGAGGAGCAGA	0.542																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1225-1227)Gac>Aac		oxysterol binding protein-like 3							212.0	196.0	202.0					7																	24888729		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24888729C>T	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1225G>A	7.37:g.24888729C>T	ENSP00000315410:p.Asp409Asn					OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000409069.1_Intron	p.D409N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			12	1676	-			409					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1225G>A	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668299	0.88348	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000396431	T;T;T	0.51325	2.04;0.71;0.71	5.69	5.69	0.88448	.	0.195094	0.53938	D	0.000045	T	0.48409	0.1498	M	0.72118	2.19	0.80722	D	1	B;P	0.34724	0.382;0.465	B;B	0.26969	0.07;0.075	T	0.53570	-0.8420	10	0.59425	D	0.04	-13.7122	18.0068	0.89212	0.0:1.0:0.0:0.0	.	378;409	Q9H4L5-2;Q9H4L5	.;OSBL3_HUMAN	N	409;378;378	ENSP00000315410:D409N;ENSP00000315331:D378N;ENSP00000379708:D378N	ENSP00000315410:D409N	D	-	1	0	OSBPL3	24855254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.073000	0.71245	2.676000	0.91093	0.655000	0.94253	GAC		0.542	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			84	589	0	0	0	1	0	84	589				
LRCH1	23143	broad.mit.edu	37	13	47269052	47269052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47269052C>T	ENST00000389798.3	+	9	1342	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	LRCH1_ENST00000311191.6_Missense_Mutation_p.P382L|LRCH1_ENST00000389797.3_Missense_Mutation_p.P382L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	382										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GAATTTCAACCGGAGCCTTCC	0.398																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1144-1146)cCg>cTg		leucine-rich repeats and calponin homology (CH) domain containing 1							79.0	83.0	82.0					13																	47269052		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47269052C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1145C>T	13.37:g.47269052C>T	ENSP00000374448:p.Pro382Leu					LRCH1_ENST00000389797.3_Missense_Mutation_p.P382L|LRCH1_ENST00000389798.3_Missense_Mutation_p.P382L	p.P382L	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	9	1374	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	382					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1145C>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289009	0.10513	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.54071	0.59;0.64;0.63	5.68	3.78	0.43462	.	0.343441	0.24793	N	0.035544	T	0.32285	0.0824	L	0.36672	1.1	0.39613	D	0.969908	P;B;P;P	0.49635	0.878;0.139;0.926;0.878	B;B;B;B	0.37888	0.133;0.011;0.26;0.091	T	0.15752	-1.0426	10	0.12430	T	0.62	-3.5177	5.8134	0.18479	0.2344:0.6677:0.0:0.0979	.	382;382;382;382	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	L	382	ENSP00000308493:P382L;ENSP00000374448:P382L;ENSP00000374447:P382L	ENSP00000308493:P382L	P	+	2	0	LRCH1	46167053	0.003000	0.15002	0.908000	0.35775	0.896000	0.52359	0.603000	0.24149	1.407000	0.46875	-0.145000	0.13849	CCG		0.398	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		72	347	0	0	0	1	0	72	347				
IGKV6D-21	28870	broad.mit.edu	37	2	90060849	90060849	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:90060849C>A	ENST00000436451.2	+	0	263									immunoglobulin kappa variable 6D-21 (non-functional)																		TCCAAAGCTCCTCATCAAGTA	0.532																																						ENST00000436451.2																			0																				83.0	75.0	78.0					2																	90060849		1876	4096	5972			0							g.chr2:90060849C>A	X12683		2p11.2	2012-02-10	2008-09-10		ENSG00000225523	ENSG00000225523		"""Immunoglobulins / IGK locus"""	5837	other	immunoglobulin gene			"""immunoglobulin kappa variable 6D-21"""				Standard	NG_000833		Approved	IGKV6D21, A10			OTTHUMG00000151608		2.37:g.90060849C>A														0	263	+									RNA	SNP	ENST00000436451.2	37																																																																																						0.532	IGKV6D-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323280.1	NG_000833		38	364	1	0	5.59293e-11	1	5.94944e-11	38	364				
GSTA2	2939	broad.mit.edu	37	6	52617718	52617718	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52617718T>C	ENST00000493422.1	-	5	503	c.348A>G	c.(346-348)gaA>gaG	p.E116E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	116	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TGGCATCTTGTTCCTCAGGTT	0.398																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(346-348)gaA>gaG		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						233.0	222.0	226.0					6																	52617718		2203	4300	6503	SO:0001819	synonymous_variant	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52617718T>C	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.348A>G	6.37:g.52617718T>C							p.E116E	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			5	503	-	Lung NSC(77;0.118)		116			GST C-terminal.		Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	c.348A>G	CCDS4944.1																																																																																				0.398	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		54	1206	0	0	0	1	0	54	1206				
CENPE	1062	broad.mit.edu	37	4	104074400	104074400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104074400C>T	ENST00000265148.3	-	25	3130	c.3041G>A	c.(3040-3042)gGc>gAc	p.G1014D	CENPE_ENST00000380026.3_Missense_Mutation_p.G989D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1014					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATCTATGCCAACCATCTA	0.289																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(3040-3042)gGc>gAc		centromere protein E, 312kDa							89.0	84.0	85.0					4																	104074400		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104074400C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3041G>A	4.37:g.104074400C>T	ENSP00000265148:p.Gly1014Asp					CENPE_ENST00000380026.3_Missense_Mutation_p.G989D	p.G1014D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	25	3130	-			1014					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.3041G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475696	0.04414	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.93426	-3.22;-3.22;-3.22	4.08	-8.11	0.01082	.	.	.	.	.	D	0.83797	0.5332	L	0.31294	0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.70447	-0.4869	9	0.06625	T	0.88	.	10.9198	0.47158	0.0:0.1096:0.1993:0.6911	.	989;1014	Q02224-3;Q02224	.;CENPE_HUMAN	D	1014;1014;989;1014	ENSP00000265148:G1014D;ENSP00000369365:G989D;ENSP00000423981:G1014D	ENSP00000265148:G1014D	G	-	2	0	CENPE	104293849	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-3.588000	0.00422	-2.091000	0.00858	-1.051000	0.02340	GGC		0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				25	157	0	0	0	1	0	25	157				
OMP	4975	broad.mit.edu	37	11	76814037	76814037	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76814037C>A	ENST00000529803.1	+	1	152	c.152C>A	c.(151-153)tCt>tAt	p.S51Y	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	51					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCAGCGGAGTCTGTGTACCGC	0.647																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(151-153)tCt>tAt		olfactory marker protein							41.0	53.0	49.0					11																	76814037		2156	4259	6415	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814037C>A	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.152C>A	11.37:g.76814037C>A	ENSP00000436376:p.Ser51Tyr					CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron	p.S51Y	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	152	+			51					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.152C>A	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.858095	0.00558	.	.	ENSG00000254550	ENST00000529803	T	0.31510	1.49	5.12	0.87	0.19102	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.25256	N	0.98963	B	0.10296	0.003	B	0.13407	0.009	T	0.35176	-0.9799	9	0.02654	T	1	.	3.0411	0.06139	0.3394:0.3208:0.0:0.3398	.	51	P47874	OMP_HUMAN	Y	51	ENSP00000436376:S51Y	ENSP00000436376:S51Y	S	+	2	0	OMP	76491685	0.005000	0.15991	0.993000	0.49108	0.089000	0.18198	0.288000	0.18939	0.330000	0.23485	0.462000	0.41574	TCT		0.647	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		63	210	1	0	2.32099e-22	1	2.62577e-22	63	210				
MVP	9961	broad.mit.edu	37	16	29853245	29853245	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29853245C>T	ENST00000357402.5	+	10	1584	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	MVP_ENST00000395353.1_Silent_p.F482F|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	482					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCGTGGTCTTCGGGCCTGAGC	0.677																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1444-1446)ttC>ttT		major vault protein							40.0	44.0	42.0					16																	29853245		2197	4300	6497	SO:0001819	synonymous_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29853245C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1446C>T	16.37:g.29853245C>T						MVP_ENST00000395353.1_Silent_p.F482F|MVP_ENST00000452209.2_3'UTR	p.F482F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			10	1584	+			482					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	37	c.1446C>T	CCDS10656.1																																																																																				0.677	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		50	203	0	0	0	1	0	50	203				
USH2A	7399	broad.mit.edu	37	1	215812508	215812508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215812508G>A	ENST00000307340.3	-	69	15427	c.15041C>T	c.(15040-15042)tCt>tTt	p.S5014F	USH2A_ENST00000366943.2_Missense_Mutation_p.S5014F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5014					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTCCAGTAGAGGTATCATA	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15040-15042)tCt>tTt		Usher syndrome 2A (autosomal recessive, mild)							232.0	232.0	232.0					1																	215812508		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215812508G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15041C>T	1.37:g.215812508G>A	ENSP00000305941:p.Ser5014Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S5014F	p.S5014F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	69	15427	-			5014			Fibronectin type-III 35.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15041C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255912	0.39896	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.56;2.56	5.2	3.2	0.36748	Fibronectin, type III (1);	0.641375	0.12801	U	0.438029	T	0.23330	0.0564	M	0.63428	1.95	0.09310	N	1	D	0.56521	0.976	P	0.48030	0.564	T	0.11792	-1.0573	10	0.48119	T	0.1	.	15.9808	0.80108	0.0:0.3703:0.6297:0.0	.	5014	O75445	USH2A_HUMAN	F	5014	ENSP00000305941:S5014F;ENSP00000355910:S5014F	ENSP00000305941:S5014F	S	-	2	0	USH2A	213879131	0.194000	0.23325	0.015000	0.15790	0.374000	0.29953	2.955000	0.49121	1.176000	0.42840	0.655000	0.94253	TCT		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		239	740	0	0	0	1	0	239	740				
DYNC2H1	79659	broad.mit.edu	37	11	103086499	103086499	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103086499A>T	ENST00000375735.2	+	55	8888	c.8744A>T	c.(8743-8745)aAc>aTc	p.N2915I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2915	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGAACTGAACAGAAAAGCT	0.353																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(8743-8745)aAc>aTc		dynein, cytoplasmic 2, heavy chain 1							89.0	83.0	85.0					11																	103086499		1887	4125	6012	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103086499A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8744A>T	11.37:g.103086499A>T	ENSP00000364887:p.Asn2915Ile					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I	p.N2915I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	55	8888	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2915			Stalk (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.8744A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069975	0.76301	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74315	-0.83;-0.83	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.090476	0.41194	U	0.000931	T	0.74023	0.3662	L	0.40543	1.245	0.50313	D	0.999868	P;P	0.40875	0.614;0.731	P;B	0.46885	0.53;0.395	T	0.77011	-0.2746	10	0.66056	D	0.02	.	15.327	0.74172	1.0:0.0:0.0:0.0	.	2915;2915	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2915	ENSP00000364887:N2915I;ENSP00000381167:N2915I	ENSP00000364887:N2915I	N	+	2	0	DYNC2H1	102591709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.313000	0.78978	2.016000	0.59253	0.533000	0.62120	AAC		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		19	76	0	0	0	1	0	19	76				
PCNX	22990	broad.mit.edu	37	14	71540352	71540352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71540352C>T	ENST00000304743.2	+	27	5389	c.4943C>T	c.(4942-4944)cCt>cTt	p.P1648L	PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L|PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1648						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATATTCCTCACATGCTT	0.443																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4942-4944)cCt>cTt		pecanex homolog (Drosophila)							257.0	218.0	231.0					14																	71540352		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71540352C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4943C>T	14.37:g.71540352C>T	ENSP00000304192:p.Pro1648Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L|PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L	p.P1648L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	27	5389	+			1648					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4943C>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.520918|4.520918	0.85495|0.85495	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.12879	.|3.0;3.03;2.64	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.097108	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	M|M	0.79011|0.79011	2.435|2.435	0.52501|0.52501	D|D	0.999954|0.999954	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	T|T	0.31223|0.31223	-0.9951|-0.9951	5|10	.|0.72032	.|D	.|0.01	.|.	18.7985|18.7985	0.92007|0.92007	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1576;1537;1648	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	F|L	635|1648;1576;1537	.|ENSP00000304192:P1648L;ENSP00000238570:P1576L;ENSP00000396617:P1537L	.|ENSP00000238570:P1576L	L|P	+|+	1|2	0|0	PCNX|PCNX	70610105|70610105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.278000|7.278000	0.78587|0.78587	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.443	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		121	548	0	0	0	1	0	121	548				
CDC14A	8556	broad.mit.edu	37	1	100963751	100963751	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100963751C>T	ENST00000336454.3	+	14	1764	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V|CDC14A_ENST00000544534.1_Missense_Mutation_p.A470V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	470					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTTCGGGTGCCACTGTAAGA	0.468																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1408-1410)gCc>gTc		cell division cycle 14A							149.0	139.0	142.0					1																	100963751		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100963751C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1409C>T	1.37:g.100963751C>T	ENSP00000336739:p.Ala470Val					CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V|CDC14A_ENST00000544534.1_Missense_Mutation_p.A470V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V	p.A470V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	14	1764	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	470					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.1409C>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	7.262	0.605482	0.14002	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.10668	2.85;2.85;3.07;2.89	5.23	3.36	0.38483	.	0.679120	0.15124	N	0.279214	T	0.02380	0.0073	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.0;0.001;0.004	T	0.44421	-0.9329	10	0.24483	T	0.36	0.0399	10.4088	0.44280	0.0:0.8468:0.0:0.1532	.	412;470;470;470	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	V	412;470;470;470	ENSP00000442640:A412V;ENSP00000354916:A470V;ENSP00000336739:A470V;ENSP00000442543:A470V	ENSP00000336739:A470V	A	+	2	0	CDC14A	100736339	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	2.762000	0.47597	0.697000	0.31718	0.655000	0.94253	GCC		0.468	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		38	510	0	0	0	1	0	38	510				
IL6R	3570	broad.mit.edu	37	1	154437670	154437670	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154437670G>A	ENST00000368485.3	+	10	1658	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	IL6R_ENST00000344086.4_3'UTR|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	407					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TGCATCCGCCGTACTCTTTGG	0.567																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(1219-1221)ccG>ccA		interleukin 6 receptor							90.0	86.0	88.0					1																	154437670		2203	4300	6503	SO:0001819	synonymous_variant	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154437670G>A	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1221G>A	1.37:g.154437670G>A						IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_3'UTR	p.P407P	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	1658	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		407					A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	c.1221G>A	CCDS1067.1																																																																																				0.567	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		91	397	0	0	0	1	0	91	397				
C1QTNF1	114897	broad.mit.edu	37	17	77042743	77042743	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77042743G>T	ENST00000339142.2	+	4	817	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	88					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCGGCGACCGCCGTGCCCCA	0.597											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(262-264)Gcc>Tcc		C1q and tumor necrosis factor related protein 1							74.0	75.0	75.0					17																	77042743		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77042743G>T	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.262G>T	17.37:g.77042743G>T	ENSP00000340864:p.Ala88Ser		OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S	p.A88S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	817	+			88					Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.262G>T	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	g	2.674	-0.276982	0.05679	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.94232	-3.38;-1.51;-3.38	4.21	2.14	0.27477	.	0.290748	0.24652	N	0.036704	D	0.83018	0.5163	N	0.08118	0	0.09310	N	1	B;B;B	0.27823	0.19;0.19;0.116	B;B;B	0.30105	0.111;0.111;0.111	T	0.69658	-0.5086	10	0.14252	T	0.57	.	10.5504	0.45085	0.0:0.5937:0.4063:0.0	.	98;98;88	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	S	88;6;98;88;98	ENSP00000340864:A88S;ENSP00000311265:A6S;ENSP00000343230:A98S	ENSP00000311265:A6S	A	+	1	0	C1QTNF1	74554338	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.715000	0.25822	0.489000	0.27749	-0.319000	0.08680	GCC		0.597	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		112	534	1	0	3.70905e-73	1	4.72081e-73	112	534				
HERC1	8925	broad.mit.edu	37	15	64019960	64019960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64019960C>T	ENST00000443617.2	-	17	3319	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1078					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAAGGCCGAGCCACTGACACA	0.468																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(3232-3234)Gct>Act		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							69.0	70.0	70.0					15																	64019960		1932	4153	6085	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64019960C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3232G>A	15.37:g.64019960C>T	ENSP00000390158:p.Ala1078Thr						p.A1078T	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			17	3319	-			1078					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.3232G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857267	0.71834	.	.	ENSG00000103657	ENST00000443617	T	0.41758	0.99	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000001	T	0.27731	0.0682	N	0.12182	0.205	0.80722	D	1	P	0.43750	0.816	B	0.39068	0.289	T	0.05517	-1.0880	10	0.19147	T	0.46	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	1078	Q15751	HERC1_HUMAN	T	1078	ENSP00000390158:A1078T	ENSP00000390158:A1078T	A	-	1	0	HERC1	61807013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.528000	0.85240	0.655000	0.94253	GCT		0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		27	200	0	0	0	1	0	27	200				
ZNF365	22891	broad.mit.edu	37	10	64159483	64159483	+	Missense_Mutation	SNP	C	C	T	rs528809549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64159483C>T	ENST00000395254.3	+	5	1439	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGGTTTGGCCGCAAAGGCAA	0.542																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1159-1161)Cgc>Tgc		zinc finger protein 365							58.0	57.0	58.0					10																	64159483		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64159483C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1159C>T	10.37:g.64159483C>T	ENSP00000378674:p.Arg387Cys					ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	p.R387C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			5	1439	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Missense_Mutation	SNP	ENST00000395254.3	37	c.1159C>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508291	0.85282	.	.	ENSG00000138311	ENST00000395254	T	0.63417	-0.04	5.82	5.82	0.92795	.	.	.	.	.	T	0.78033	0.4220	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78959	-0.1998	9	0.87932	D	0	.	17.8822	0.88843	0.0:1.0:0.0:0.0	.	387;402	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	C	387	ENSP00000378674:R387C	ENSP00000378674:R387C	R	+	1	0	ZNF365	63829489	0.968000	0.33430	0.996000	0.52242	0.905000	0.53344	0.835000	0.27531	2.745000	0.94114	0.655000	0.94253	CGC		0.542	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		71	296	0	0	0	1	0	71	296				
SH3BP5L	80851	broad.mit.edu	37	1	249108782	249108782	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249108782G>A	ENST00000366472.5	-	5	1632	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	SH3BP5L_ENST00000411742.2_Silent_p.L103L|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	135										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTACCGCAGCGCTGCCTTC	0.607																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(403-405)Ctg>Ttg		SH3-binding domain protein 5-like							90.0	71.0	78.0					1																	249108782		2203	4300	6503	SO:0001819	synonymous_variant	80851							g.chr1:249108782G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.403C>T	1.37:g.249108782G>A						SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.L103L	p.L135L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		5	1632	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	135					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	c.403C>T	CCDS31126.1																																																																																				0.607	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		19	269	0	0	0	1	0	19	269				
ERBB4	2066	broad.mit.edu	37	2	212251629	212251629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212251629C>A	ENST00000342788.4	-	27	3740	c.3430G>T	c.(3430-3432)Gag>Tag	p.E1144*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1144					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCATCCAGCTCTCCTCGTGGG	0.527										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3430-3432)Gag>Tag		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							163.0	151.0	155.0					2																	212251629		2203	4300	6503	SO:0001587	stop_gained	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251629C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3430G>T	2.37:g.212251629C>A	ENSP00000342235:p.Glu1144*	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*	p.E1144*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3740	-		Renal(323;0.06)|Lung NSC(271;0.197)	1144					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	c.3430G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	40	8.171377	0.98688	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.6	5.6	0.85130	.	0.174945	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.6171	0.95638	0.0:1.0:0.0:0.0	.	.	.	.	X	1144;1128;1134	.	ENSP00000342235:E1144X	E	-	1	0	ERBB4	211959874	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.396000	0.66297	2.638000	0.89438	0.462000	0.41574	GAG		0.527	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		39	458	1	0	2.26627e-22	1	2.56399e-22	39	458				
ABCA4	24	broad.mit.edu	37	1	94512539	94512539	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94512539T>C	ENST00000370225.3	-	19	2940	c.2854A>G	c.(2854-2856)Acc>Gcc	p.T952A	ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	952	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGTAGAAGGTGATGTTCAGA	0.547																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2854-2856)Acc>Gcc		ATP-binding cassette, sub-family A (ABC1), member 4							154.0	157.0	156.0					1																	94512539		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512539T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2854A>G	1.37:g.94512539T>C	ENSP00000359245:p.Thr952Ala					ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	p.T952A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2940	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	952			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2854A>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682285	0.68042	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.94092	-3.35;-2.87	5.62	5.62	0.85841	ABC transporter-like (1);	0.193028	0.56097	D	0.000039	D	0.84120	0.5402	N	0.21142	0.635	0.28085	N	0.932033	B;B	0.33940	0.433;0.001	B;B	0.35182	0.197;0.006	T	0.82200	-0.0575	10	0.72032	D	0.01	.	15.8271	0.78718	0.0:0.0:0.0:1.0	.	878;952	F5H6E5;P78363	.;ABCA4_HUMAN	A	952;878	ENSP00000359245:T952A;ENSP00000437682:T878A	ENSP00000359245:T952A	T	-	1	0	ABCA4	94285127	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	6.148000	0.71788	2.149000	0.67028	0.533000	0.62120	ACC		0.547	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		88	798	0	0	0	1	0	88	798				
SNAP23	8773	broad.mit.edu	37	15	42822003	42822003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42822003C>T	ENST00000249647.3	+	7	1024	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	186	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAAATAAAACGAATCACAGA	0.418																																						ENST00000249647.3																			0				large_intestine(1)|lung(1)	2						c.(556-558)Cga>Tga		synaptosomal-associated protein, 23kDa							102.0	96.0	98.0					15																	42822003		2203	4299	6502	SO:0001587	stop_gained	8773				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding	g.chr15:42822003C>T	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.556C>T	15.37:g.42822003C>T	ENSP00000249647:p.Arg186*					SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*	p.R186*	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN		GBM - Glioblastoma multiforme(94;2.62e-06)	7	1024	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	186			t-SNARE coiled-coil homology 2.		O00162|Q13602|Q6IAE3	Nonsense_Mutation	SNP	ENST00000249647.3	37	c.556C>T	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299903	0.05532	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	1.16	0.20824	.	0.507597	0.22362	N	0.061079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4173	9.2908	0.37786	0.3635:0.5694:0.0:0.0672	.	.	.	.	X	186;133;133	.	ENSP00000249647:R186X	R	+	1	2	SNAP23	40609295	0.594000	0.26849	0.002000	0.10522	0.213000	0.24496	1.417000	0.34770	0.334000	0.23590	0.655000	0.94253	CGA		0.418	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		61	335	0	0	0	1	0	61	335				
DZIP3	9666	broad.mit.edu	37	3	108335411	108335411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108335411G>A	ENST00000361582.3	+	5	512	c.282G>A	c.(280-282)caG>caA	p.Q94Q	DZIP3_ENST00000463306.1_Silent_p.Q94Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	94					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTAACAGCCAGAATGGTGAGG	0.348																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(280-282)caG>caA		DAZ interacting zinc finger protein 3							176.0	171.0	173.0					3																	108335411		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108335411G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.282G>A	3.37:g.108335411G>A						DZIP3_ENST00000463306.1_Silent_p.Q94Q	p.Q94Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			5	512	+			94					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.282G>A	CCDS2952.1																																																																																				0.348	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		75	349	0	0	0	1	0	75	349				
PCNT	5116	broad.mit.edu	37	21	47860063	47860063	+	Missense_Mutation	SNP	C	C	T	rs375486259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47860063C>T	ENST00000359568.5	+	42	9448	c.9341C>T	c.(9340-9342)cCc>cTc	p.P3114L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3114	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCCCAGACCCCGGCCGGCTT	0.567																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(9340-9342)cCc>cTc		pericentrin		C	LEU/PRO	0,4406		0,0,2203	56.0	64.0	61.0		9341	2.1	0.0	21		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNT	NM_006031.5	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3114/3337	47860063	1,13005	2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47860063C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9341C>T	21.37:g.47860063C>T	ENSP00000352572:p.Pro3114Leu					PCNT_ENST00000480896.1_3'UTR	p.P3114L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			42	9448	+	Breast(49;0.112)		3114			Interaction with NEK2.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.9341C>T	CCDS33592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.72|15.72	2.915887|2.915887	0.52546|0.52546	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160299|ENSG00000160299	ENST00000359568|ENST00000418394	T|T	0.01538|0.28454	4.79|1.61	4.96|4.96	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.18013|.	0.025;0.015|.	B;B|.	0.17433|.	0.018;0.008|.	T|T	0.28964|0.28964	-1.0027|-1.0027	9|7	0.56958|0.15499	D|T	0.05|0.54	.|.	5.8823|5.8823	0.18862|0.18862	0.1533:0.6805:0.0:0.1662|0.1533:0.6805:0.0:0.1662	.|.	2917;3114|.	O95613-2;O95613|.	.;PCNT_HUMAN|.	L|S	3114|95	ENSP00000352572:P3114L|ENSP00000404708:P95S	ENSP00000352572:P3114L|ENSP00000404708:P95S	P|P	+|+	2|1	0|0	PCNT|PCNT	46684491|46684491	0.060000|0.060000	0.20803|0.20803	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	2.134000|2.134000	0.42102|0.42102	0.335000|0.335000	0.23614|0.23614	-0.150000|-0.150000	0.13652|0.13652	CCC|CCG		0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		111	509	0	0	0	1	0	111	509				
PRKCD	5580	broad.mit.edu	37	3	53220225	53220225	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220225A>G	ENST00000394729.2	+	12	1457	c.1129A>G	c.(1129-1131)Atc>Gtc	p.I377V	PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTACTTTGCCATCAAGGCCCT	0.597																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1129-1131)Atc>Gtc		protein kinase C, delta							106.0	94.0	98.0					3																	53220225		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220225A>G		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1129A>G	3.37:g.53220225A>G	ENSP00000378217:p.Ile377Val					PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	p.I377V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	12	1457	+		Ovarian(412;0.0728)	377			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1129A>G	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.23147	1.92;1.92	5.15	-5.74	0.02391	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.337088	0.34853	N	0.003637	T	0.10594	0.0259	N	0.12611	0.24	0.25272	N	0.989504	B	0.10296	0.003	B	0.12837	0.008	T	0.24584	-1.0156	10	0.06099	T	0.92	.	16.4546	0.84008	0.4405:0.0:0.5595:0.0	.	377	Q05655	KPCD_HUMAN	V	377	ENSP00000378217:I377V;ENSP00000331602:I377V	ENSP00000331602:I377V	I	+	1	0	PRKCD	53195265	0.000000	0.05858	0.005000	0.12908	0.697000	0.40408	-0.023000	0.12456	-1.520000	0.01773	-1.431000	0.01090	ATC		0.597	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	184	0	0	0	1	0	8	184				
PCED1B	91523	broad.mit.edu	37	12	47629064	47629064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47629064G>A	ENST00000546455.1	+	4	949	c.218G>A	c.(217-219)gGc>gAc	p.G73D	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.G73D			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	73							hydrolase activity (GO:0016787)										ATGCACAACGGCCTTAACTAC	0.597																																						ENST00000546455.1																			0											c.(217-219)gGc>gAc		PC-esterase domain containing 1B							108.0	98.0	101.0					12																	47629064		2203	4300	6503	SO:0001583	missense	91523							g.chr12:47629064G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.218G>A	12.37:g.47629064G>A	ENSP00000446688:p.Gly73Asp					PCED1B_ENST00000432328.1_Missense_Mutation_p.G73D	p.G73D							4	949	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.218G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961183	0.53400	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.79	3.79	0.43588	Esterase, SGNH hydrolase-type (1);	0.154442	0.41823	D	0.000804	T	0.42086	0.1187	M	0.80183	2.485	0.42662	D	0.993489	D	0.89917	1.0	D	0.87578	0.998	T	0.34775	-0.9815	10	0.39692	T	0.17	-18.9126	13.9718	0.64245	0.0:0.0:1.0:0.0	.	73	Q96HM7	F113B_HUMAN	D	73	ENSP00000446688:G73D;ENSP00000396040:G73D;ENSP00000449680:G73D;ENSP00000448000:G73D	ENSP00000396040:G73D	G	+	2	0	FAM113B	45915331	1.000000	0.71417	0.268000	0.24571	0.018000	0.09664	8.006000	0.88564	2.417000	0.82017	0.655000	0.94253	GGC		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		13	416	0	0	0	1	0	13	416				
KMT2D	8085	broad.mit.edu	37	12	49421001	49421001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49421001C>T	ENST00000301067.7	-	48	14747	c.14748G>A	c.(14746-14748)ccG>ccA	p.P4916P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4916	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P4916P(1)|p.P4646P(1)									GGGAAGGGGGCGGGGAGGGTT	0.637																																						ENST00000301067.7																			2	Substitution - coding silent(2)	p.P4916P(1)|p.P4646P(1)	endometrium(2)								c.(14746-14748)ccG>ccA		lysine (K)-specific methyltransferase 2D							41.0	47.0	45.0					12																	49421001		1861	4058	5919	SO:0001819	synonymous_variant	8085							g.chr12:49421001C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14748G>A	12.37:g.49421001C>T							p.P4916P	NM_003482.3	NP_003473.3					48	14747	-								O14687	Silent	SNP	ENST00000301067.7	37	c.14748G>A	CCDS44873.1																																																																																				0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			72	350	0	0	0	1	0	72	350				
LRRC14	9684	broad.mit.edu	37	8	145741444	145741444	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145741444G>A	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Silent_p.Y353Y|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGAGCCGTACGTAATTGCCCC	0.642																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1057-1059)taC>taT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							48.0	57.0	54.0					8																	145741444		2080	4189	6269	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741444G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741444G>A	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.Y353Y	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	1100	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		353					A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	c.1059C>T	CCDS6432.1																																																																																				0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		61	252	0	0	0	1	0	61	252				
PCIF1	63935	broad.mit.edu	37	20	44574362	44574362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44574362C>T	ENST00000372409.3	+	12	1545	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	394					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GAGGTGGAGGCCCCTGAGGTG	0.627																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1180-1182)gCc>gTc		PDX1 C-terminal inhibiting factor 1							50.0	48.0	49.0					20																	44574362		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44574362C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1181C>T	20.37:g.44574362C>T	ENSP00000361486:p.Ala394Val					PCIF1_ENST00000479348.1_3'UTR	p.A394V	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			12	1545	+			394					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1181C>T	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846816	0.32606	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.232564	0.43579	D	0.000542	T	0.24586	0.0596	N	0.02539	-0.55	0.39209	D	0.963286	B	0.02656	0.0	B	0.04013	0.001	T	0.20472	-1.0274	9	0.15952	T	0.53	-15.6623	10.6663	0.45732	0.0:0.9124:0.0:0.0876	.	394	Q9H4Z3	PCIF1_HUMAN	V	394	.	ENSP00000361486:A394V	A	+	2	0	PCIF1	44007769	0.976000	0.34144	0.999000	0.59377	0.847000	0.48162	2.471000	0.45127	2.615000	0.88500	0.558000	0.71614	GCC		0.627	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		46	244	0	0	0	1	0	46	244				
FGF14	2259	broad.mit.edu	37	13	102568812	102568812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568812G>A	ENST00000376143.4	-	1	183	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	62					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTTGGCGCCGCAACCTGCGC	0.652																																						ENST00000376143.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(184-186)Cgg>Tgg		fibroblast growth factor 14							43.0	45.0	44.0					13																	102568812		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102568812G>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.184C>T	13.37:g.102568812G>A	ENSP00000365313:p.Arg62Trp					FGF14_ENST00000376131.4_Intron	p.R62W	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN			1	183	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		62					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.184C>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726908	0.48833	.	.	ENSG00000102466	ENST00000376143	T	0.78595	-1.19	5.36	4.51	0.55191	.	.	.	.	.	D	0.83538	0.5276	L	0.58810	1.83	0.32606	N	0.525298	D	0.71674	0.998	D	0.63793	0.918	D	0.86464	0.1781	9	0.72032	D	0.01	.	11.0126	0.47671	0.0:0.1403:0.7139:0.1458	.	62	Q92915	FGF14_HUMAN	W	62	ENSP00000365313:R62W	ENSP00000365313:R62W	R	-	1	2	FGF14	101366813	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	2.877000	0.48506	1.226000	0.43582	0.563000	0.77884	CGG		0.652	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			52	270	0	0	0	1	0	52	270				
NAV3	89795	broad.mit.edu	37	12	78583834	78583834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78583834C>A	ENST00000397909.2	+	34	6299	c.6126C>A	c.(6124-6126)taC>taA	p.Y2042*	NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2042						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCAAAGGTACTTTAACTTGT	0.358										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6124-6126)taC>taA		neuron navigator 3							106.0	98.0	101.0					12																	78583834		1925	4150	6075	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583834C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6126C>A	12.37:g.78583834C>A	ENSP00000381007:p.Tyr2042*	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000552300.1_3'UTR	p.Y2042*			Q8IVL0	NAV3_HUMAN			34	6299	+			2042					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.6126C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.205461|13.205461	0.99727|0.99727	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|.	.|.	.|.	5.03|5.03	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.36703	.|U	.|0.002448	T|.	0.30885|.	0.0779|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12889|.	-1.0530|.	4|.	.|0.02654	.|T	.|1	-6.2545|-6.2545	10.4374|10.4374	0.44443|0.44443	0.0:0.8325:0.0:0.1675|0.0:0.8325:0.0:0.1675	.|.	.|.	.|.	.|.	I|X	915|2020;2042;2020;1843;634;642	.|.	.|ENSP00000228327:Y2020X	L|Y	+|+	1|3	0|2	NAV3|NAV3	77107965|77107965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.117000|2.117000	0.41939|0.41939	0.575000|0.575000	0.29434|0.29434	0.655000|0.655000	0.94253|0.94253	CTT|TAC		0.358	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		62	357	1	0	7.73544e-29	1	9.01949e-29	62	357				
CLEC14A	161198	broad.mit.edu	37	14	38724650	38724650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724650C>T	ENST00000342213.2	-	1	924	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAAGGGCGCGCGATAGCTCAA	0.647																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(577-579)cGc>cAc		C-type lectin domain family 14, member A							40.0	41.0	41.0					14																	38724650		2197	4288	6485	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724650C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.578G>A	14.37:g.38724650C>T	ENSP00000353013:p.Arg193His						p.R193H	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	924	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		193					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.578G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531589	0.64972	.	.	ENSG00000176435	ENST00000342213	T	0.74526	-0.85	4.13	1.2	0.21068	.	0.742908	0.11393	N	0.568573	T	0.55081	0.1898	N	0.24115	0.695	0.27874	N	0.939923	B	0.28082	0.2	B	0.21917	0.037	T	0.47935	-0.9078	10	0.51188	T	0.08	-3.0414	4.3188	0.11007	0.181:0.6143:0.0:0.2047	.	193	Q86T13	CLC14_HUMAN	H	193	ENSP00000353013:R193H	ENSP00000353013:R193H	R	-	2	0	CLEC14A	37794401	0.009000	0.17119	0.980000	0.43619	0.982000	0.71751	-0.147000	0.10234	0.268000	0.21939	0.591000	0.81541	CGC		0.647	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		126	493	0	0	0	1	0	126	493				
CEACAM7	1087	broad.mit.edu	37	19	42192088	42192088	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42192088A>G	ENST00000006724.3	-	1	208	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P|CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	3						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GCTGAAGGGGACCCCATGGTC	0.607																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(7-9)Tcc>Ccc		carcinoembryonic antigen-related cell adhesion molecule 7							81.0	67.0	72.0					19																	42192088		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42192088A>G	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.7T>C	19.37:g.42192088A>G	ENSP00000006724:p.Ser3Pro					CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P|CEACAM7_ENST00000599715.1_Intron	p.S3P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	1	208	-			3					A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.7T>C	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.095813	0.00364	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.13538	2.58;2.58;5.32	1.67	0.317	0.15861	.	.	.	.	.	T	0.02767	0.0083	N	0.00765	-1.205	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.44065	-0.9352	9	0.02654	T	1	.	4.1531	0.10247	0.2321:0.0:0.7679:0.0	.	3;3	Q14002-2;Q14002	.;CEAM7_HUMAN	P	3	ENSP00000006724:S3P;ENSP00000385932:S3P;ENSP00000343286:S3P	ENSP00000006724:S3P	S	-	1	0	CEACAM7	46883928	0.000000	0.05858	0.257000	0.24404	0.035000	0.12851	-1.106000	0.03319	0.234000	0.21139	-0.756000	0.03474	TCC		0.607	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		48	228	0	0	0	1	0	48	228				
DGCR5	26220	broad.mit.edu	37	22	18975272	18975272	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18975272C>T	ENST00000421572.1	+	0	263				DGCR5_ENST00000438934.1_RNA|DGCR5_ENST00000399539.3_RNA|DGCR5_ENST00000440005.2_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		CCCCCCAGTTCTTGCTGTCGA	0.498																																						ENST00000438934.1																			0																																																			0							g.chr22:18975272C>T	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18975272C>T						DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA								0	148	+									RNA	SNP	ENST00000421572.1	37																																																																																						0.498	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		23	94	0	0	0	1	0	23	94				
VPS13A	23230	broad.mit.edu	37	9	79908284	79908284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79908284T>C	ENST00000360280.3	+	32	3627	c.3367T>C	c.(3367-3369)Ttc>Ctc	p.F1123L	VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1123					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						AAAAGAAGTTTTCAGCTTCAA	0.303																																						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.(3367-3369)Ttc>Ctc		vacuolar protein sorting 13 homolog A (S. cerevisiae)							106.0	109.0	108.0					9																	79908284		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79908284T>C	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.3367T>C	9.37:g.79908284T>C	ENSP00000353422:p.Phe1123Leu					VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L	p.F1123L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			32	3627	+			1123					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3367T>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656337	0.88056	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.40476	1.19;1.03;1.1;1.19	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.63843	1.955	0.80722	D	1	P;D;D;D	0.89917	0.924;0.998;1.0;1.0	P;D;D;D	0.91635	0.635;0.99;0.999;0.999	T	0.55062	-0.8199	10	0.15499	T	0.54	.	15.4213	0.75015	0.0:0.0:0.0:1.0	.	1084;1123;1123;1123	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	1123;1084;1123;1123	ENSP00000365821:F1123L;ENSP00000365823:F1084L;ENSP00000353422:F1123L;ENSP00000349985:F1123L	ENSP00000349985:F1123L	F	+	1	0	VPS13A	79098104	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.553000	0.82203	2.064000	0.61679	0.397000	0.26171	TTC		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		79	275	0	0	0	1	0	79	275				
NDOR1	27158	broad.mit.edu	37	9	140109572	140109572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109572C>A	ENST00000344894.5	+	9	1174	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	NDOR1_ENST00000371521.4_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D|NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCGCACACAGCTGCCGCCATC	0.652																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1090-1092)gCt>gAt		NADPH dependent diflavin oxidoreductase 1							83.0	65.0	71.0					9																	140109572		2202	4300	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109572C>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1091C>A	9.37:g.140109572C>A	ENSP00000343344:p.Ala364Asp					NDOR1_ENST00000344894.5_Missense_Mutation_p.A364D|NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D	p.A364D	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	9	1174	+	all_cancers(76;0.0926)		364			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000344894.5	37	c.1091C>A	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503587	0.64298	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.57	4.57	0.56435	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.055734	0.64402	D	0.000001	T	0.71913	0.3396	L	0.56769	1.78	0.44908	D	0.997925	D;B;P;D	0.53151	0.958;0.367;0.948;0.958	P;B;P;P	0.57468	0.821;0.14;0.726;0.821	T	0.73943	-0.3823	10	0.49607	T	0.09	-13.2222	16.2661	0.82579	0.0:1.0:0.0:0.0	.	364;330;364;364	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	D	364;330;364;364	ENSP00000389905:A364D;ENSP00000394309:A330D;ENSP00000360576:A364D;ENSP00000343344:A364D	ENSP00000343344:A364D	A	+	2	0	NDOR1	139229393	0.971000	0.33674	0.051000	0.19133	0.087000	0.18053	4.374000	0.59543	2.249000	0.74217	0.561000	0.74099	GCT		0.652	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		7	161	1	0	5.18039e-06	1	5.32547e-06	7	161				
GRIN3B	116444	broad.mit.edu	37	19	1005022	1005022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005022C>A	ENST00000234389.3	+	3	1541	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	508					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTACGGCGCCCTGCGGGACGG	0.687																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1522-1524)Ctg>Atg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						21.0	23.0	22.0					19																	1005022		2203	4292	6495	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005022C>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1522C>A	19.37:g.1005022C>A	ENSP00000234389:p.Leu508Met					GRIN3B_ENST00000588335.1_3'UTR	p.L508M	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1541	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	508					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1522C>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297039	0.40594	.	.	ENSG00000116032	ENST00000234389	T	0.54071	0.59	4.53	3.41	0.39046	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.320202	0.31290	N	0.007919	T	0.50548	0.1622	L	0.28556	0.865	0.26560	N	0.973747	D	0.59357	0.985	P	0.59115	0.852	T	0.35649	-0.9780	10	0.52906	T	0.07	.	6.458	0.21940	0.0:0.7768:0.0:0.2232	.	508	O60391	NMD3B_HUMAN	M	508	ENSP00000234389:L508M	ENSP00000234389:L508M	L	+	1	2	GRIN3B	956022	0.995000	0.38212	0.998000	0.56505	0.557000	0.35523	2.531000	0.45650	2.100000	0.63781	0.485000	0.47835	CTG		0.687	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			57	236	1	0	7.22619e-39	1	8.72213e-39	57	236				
MYO18B	84700	broad.mit.edu	37	22	26224921	26224921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26224921C>T	ENST00000407587.2	+	15	3134	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*	MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	989	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCCACGCTACAGCGATATCA	0.602																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2965-2967)Cag>Tag		myosin XVIIIB							54.0	58.0	57.0					22																	26224921		2051	4199	6250	SO:0001587	stop_gained	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26224921C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2965C>T	22.37:g.26224921C>T	ENSP00000386096:p.Gln989*					MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*	p.Q989*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			15	3215	+			989			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP	ENST00000407587.2	37	c.2965C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.572203	0.98868	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.69	3.67	0.42095	.	0.126707	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7042	0.62627	0.0:0.1588:0.8412:0.0	.	.	.	.	X	989	.	ENSP00000334563:Q989X	Q	+	1	0	MYO18B	24554921	1.000000	0.71417	0.976000	0.42696	0.021000	0.10359	3.493000	0.53266	1.196000	0.43129	-0.256000	0.11100	CAG		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		43	192	0	0	0	1	0	43	192				
LRP3	4037	broad.mit.edu	37	19	33696342	33696342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696342G>A	ENST00000253193.7	+	5	868	c.666G>A	c.(664-666)gcG>gcA	p.A222A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	222	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGCGGGGCGCGCTCCACGC	0.741																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(664-666)gcG>gcA		low density lipoprotein receptor-related protein 3							8.0	10.0	9.0					19																	33696342		2148	4211	6359	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696342G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.666G>A	19.37:g.33696342G>A							p.A222A	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	868	+	Esophageal squamous(110;0.137)		222			LDL-receptor class A 2.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.666G>A	CCDS12430.1																																																																																				0.741	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			16	71	0	0	0	1	0	16	71				
ZNF549	256051	broad.mit.edu	37	19	58049123	58049123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58049123G>T	ENST00000376233.3	+	4	932	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGCGTAGGGAATATGGGAA	0.368																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(751-753)Gaa>Taa		zinc finger protein 549							71.0	73.0	72.0					19																	58049123		2203	4300	6503	SO:0001587	stop_gained	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049123G>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.751G>T	19.37:g.58049123G>T	ENSP00000365407:p.Glu251*					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*	p.E251*	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	932	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	251					B3KV91|O43336|Q8NAR4	Nonsense_Mutation	SNP	ENST00000376233.3	37	c.751G>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339716	0.81911	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.62	-3.36	0.04913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.5826	0.12266	0.2336:0.3431:0.4233:0.0	.	.	.	.	X	238;251	.	ENSP00000240719:E238X	E	+	1	0	ZNF549	62740935	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.119000	0.10676	-0.785000	0.04522	0.555000	0.69702	GAA		0.368	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		100	442	1	0	3.39216e-54	1	4.23318e-54	100	442				
SLC22A3	6581	broad.mit.edu	37	6	160831795	160831795	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160831795C>T	ENST00000275300.2	+	5	1044	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	SLC22A3_ENST00000392145.1_Missense_Mutation_p.R298W	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	298					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GCTGATTACTCGGAAGAAAGG	0.428																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(892-894)Cgg>Tgg		solute carrier family 22 (organic cation transporter), member 3							82.0	80.0	80.0					6																	160831795		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160831795C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.892C>T	6.37:g.160831795C>T	ENSP00000275300:p.Arg298Trp					SLC22A3_ENST00000275300.2_Missense_Mutation_p.R298W	p.R298W			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	5	919	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	298					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.892C>T	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834338	0.91036	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60424	0.19;0.19	5.77	5.77	0.91146	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156570	0.45361	D	0.000380	T	0.71065	0.3296	M	0.69358	2.11	0.51233	D	0.999914	D	0.89917	1.0	D	0.79784	0.993	T	0.72940	-0.4139	10	0.87932	D	0	.	18.1733	0.89753	0.0:1.0:0.0:0.0	.	298	O75751	S22A3_HUMAN	W	298	ENSP00000275300:R298W;ENSP00000375989:R298W	ENSP00000275300:R298W	R	+	1	2	SLC22A3	160751785	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.719000	0.61937	2.745000	0.94114	0.650000	0.86243	CGG		0.428	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		10	262	0	0	0	1	0	10	262				
CXorf22	170063	broad.mit.edu	37	X	35993429	35993429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35993429G>A	ENST00000297866.5	+	14	2486	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	807										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCTACATCCAGTACTTATATT	0.333																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2419-2421)aGt>aAt		chromosome X open reading frame 22							92.0	84.0	87.0					X																	35993429		2201	4294	6495	SO:0001583	missense	170063							g.chrX:35993429G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2420G>A	X.37:g.35993429G>A	ENSP00000297866:p.Ser807Asn						p.S807N	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			14	2486	+			807					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2420G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717373	0.03182	.	.	ENSG00000165164	ENST00000297866	T	0.14391	2.51	5.3	0.859	0.19036	.	0.769651	0.13053	N	0.417491	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.32161	-0.9917	10	0.27785	T	0.31	-8.6299	4.7877	0.13232	0.3926:0.1574:0.45:0.0	.	807	Q6ZTR5	CX022_HUMAN	N	807	ENSP00000297866:S807N	ENSP00000297866:S807N	S	+	2	0	CXorf22	35903350	1.000000	0.71417	0.043000	0.18650	0.022000	0.10575	1.390000	0.34464	0.088000	0.17205	0.544000	0.68410	AGT		0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		54	217	0	0	0	1	0	54	217				
ZSWIM5	57643	broad.mit.edu	37	1	45484670	45484670	+	Missense_Mutation	SNP	C	C	T	rs375662782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45484670C>T	ENST00000359600.5	-	14	3219	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1005						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.R1005H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCATGTAGCGGGCGATGGT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		23405	0.0		0.0	False		,,,				2504	0.0					ENST00000359600.5																			1	Substitution - Missense(1)	p.R1005H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(3013-3015)cGc>cAc		zinc finger, SWIM-type containing 5		C	HIS/ARG	1,4237		0,1,2118	75.0	75.0	75.0		3014	4.7	1.0	1		75	0,8476		0,0,4238	no	missense	ZSWIM5	NM_020883.1	29	0,1,6356	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	1005/1186	45484670	1,12713	2119	4238	6357	SO:0001583	missense	57643						zinc ion binding	g.chr1:45484670C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3014G>A	1.37:g.45484670C>T	ENSP00000352614:p.Arg1005His		OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.R1005H	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			14	3219	-	Acute lymphoblastic leukemia(166;0.155)		1005					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.3014G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396091	0.83011	2.36E-4	0.0	ENSG00000162415	ENST00000359600	T	0.59772	0.24	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81709	-0.0809	10	0.87932	D	0	-8.2066	18.6023	0.91253	0.0:1.0:0.0:0.0	.	1005	Q9P217	ZSWM5_HUMAN	H	1005	ENSP00000352614:R1005H	ENSP00000352614:R1005H	R	-	2	0	ZSWIM5	45257257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.558000	0.86282	0.555000	0.69702	CGC		0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		98	313	0	0	0	1	0	98	313				
GRAMD1A	57655	broad.mit.edu	37	19	35501086	35501086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35501086G>A	ENST00000317991.5	+	5	608	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H|GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R226H|GRAMD1A_ENST00000598073.1_3'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	139	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACATCTTCCGCTGGGAGACC	0.657																																						ENST00000504615.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19								GRAM domain containing 1A							76.0	79.0	78.0					19																	35501086		1926	4131	6057	SO:0001583	missense	57655					integral to membrane		g.chr19:35501086G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.416G>A	19.37:g.35501086G>A	ENSP00000441032:p.Arg139His					GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R226H|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R139H|GRAMD1A_ENST00000598073.1_3'UTR				Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		0	572	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)							A6NKY7|Q8NC77|Q9P1Z5	Translation_Start_Site	SNP	ENST00000317991.5	37		CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490486	0.96339	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.87412	-2.25;-2.25	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.992;0.974	D	0.94105	0.7365	10	0.59425	D	0.04	.	16.6817	0.85294	0.0:0.0:1.0:0.0	.	139;139;132;226	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	226;139;132	ENSP00000441032:R139H;ENSP00000439267:R132H	ENSP00000441032:R139H	R	+	2	0	GRAMD1A	40192926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.462000	0.97649	2.793000	0.96121	0.655000	0.94253	CGC		0.657	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		28	731	0	0	0	1	0	28	731				
FRYL	285527	broad.mit.edu	37	4	48512134	48512134	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48512134A>T	ENST00000503238.1	-	56	8335	c.8336T>A	c.(8335-8337)gTt>gAt	p.V2779D	FRYL_ENST00000358350.4_Missense_Mutation_p.V2779D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000507873.2_Missense_Mutation_p.V175D|FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D			O94915	FRYL_HUMAN	FRY-like	2779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAACTCCAAAACACCAAACTT	0.418																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8335-8337)gTt>gAt		FRY-like							89.0	85.0	86.0					4																	48512134		1870	4123	5993	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48512134A>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8336T>A	4.37:g.48512134A>T	ENSP00000426064:p.Val2779Asp					FRYL_ENST00000507873.2_Missense_Mutation_p.V175D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000503238.1_Missense_Mutation_p.V2779D|FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D	p.V2779D	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			59	8940	-			2779					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8336T>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058218	0.76074	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.32515	1.46;1.46;1.45	5.93	5.93	0.95920	.	0.000000	0.64402	U	0.000007	T	0.60612	0.2282	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.992;0.997;1.0	D;D;D	0.91635	0.944;0.975;0.999	T	0.66256	-0.5969	10	0.87932	D	0	.	16.3783	0.83418	1.0:0.0:0.0:0.0	.	2779;2779;175	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	D	2779;2779;2779;175;175	ENSP00000426064:V2779D;ENSP00000351113:V2779D;ENSP00000441114:V2779D	ENSP00000264319:V175D	V	-	2	0	FRYL	48206891	1.000000	0.71417	0.957000	0.39632	0.293000	0.27360	7.065000	0.76727	2.261000	0.74972	0.477000	0.44152	GTT		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			40	198	0	0	0	1	0	40	198				
NHSL2	340527	broad.mit.edu	37	X	71359770	71359770	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71359770G>A	ENST00000373677.1	+	2	2536	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q|NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q			Q5HYW2	NHSL2_HUMAN	NHS-like 2	425	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ATCTCCATCCGAAGCAAAACT	0.483																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1273-1275)cGa>cAa		NHS-like 2							101.0	79.0	86.0					X																	71359770		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71359770G>A			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1274G>A	X.37:g.71359770G>A	ENSP00000362781:p.Arg425Gln					NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q|NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q	p.R425Q			F5H593	F5H593_HUMAN			2	2536	+	Renal(35;0.156)		791					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.1274G>A		.	.	.	.	.	.	.	.	.	.	G	10.14	1.268020	0.23136	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47177	1.46;0.87;0.85;0.87	5.93	4.02	0.46733	.	0.336461	0.23211	N	0.050675	T	0.37210	0.0995	L	0.51422	1.61	0.27091	N	0.962858	B;B;B	0.21381	0.032;0.055;0.055	B;B;B	0.12837	0.008;0.008;0.008	T	0.36407	-0.9749	10	0.59425	D	0.04	-0.4929	4.5488	0.12098	0.2009:0.1782:0.6209:0.0	.	791;560;425	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	Q	791;425;560;425	ENSP00000444617:R791Q;ENSP00000362781:R425Q;ENSP00000424079:R560Q;ENSP00000444914:R425Q	ENSP00000362781:R425Q	R	+	2	0	NHSL2	71276495	1.000000	0.71417	0.974000	0.42286	0.697000	0.40408	2.671000	0.46842	1.214000	0.43395	0.600000	0.82982	CGA		0.483	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		35	113	0	0	0	1	0	35	113				
TXNDC16	57544	broad.mit.edu	37	14	52978026	52978026	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52978026G>T	ENST00000281741.4	-	9	1059	c.688C>A	c.(688-690)Cta>Ata	p.L230I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	230					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGTTCCATTAGTGTTCTTCTA	0.333																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(688-690)Cta>Ata		thioredoxin domain containing 16							162.0	149.0	154.0					14																	52978026		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52978026G>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.688C>A	14.37:g.52978026G>T	ENSP00000281741:p.Leu230Ile					TXNDC16_ENST00000554399.1_Intron	p.L230I	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			9	1059	-	Breast(41;0.0716)		230					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.688C>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438796	0.25900	.	.	ENSG00000087301	ENST00000281741	T	0.18174	2.23	5.13	3.27	0.37495	.	0.605074	0.16762	N	0.200572	T	0.11452	0.0279	L	0.50919	1.6	0.23943	N	0.996394	B;B	0.31485	0.325;0.214	B;B	0.19391	0.025;0.023	T	0.19679	-1.0298	10	0.19147	T	0.46	-9.7799	4.3288	0.11053	0.1874:0.0:0.6307:0.1819	.	225;230	B7ZME4;Q9P2K2	.;TXD16_HUMAN	I	230	ENSP00000281741:L230I	ENSP00000281741:L230I	L	-	1	2	TXNDC16	52047776	0.895000	0.30542	1.000000	0.80357	0.988000	0.76386	0.671000	0.25172	1.278000	0.44430	0.460000	0.39030	CTA		0.333	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		69	371	1	0	7.25294e-45	1	8.88171e-45	69	371				
C7orf69	80099	broad.mit.edu	37	7	47859172	47859172	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47859172A>G	ENST00000258776.4	+	3	391	c.346A>G	c.(346-348)Aat>Gat	p.N116D	PKD1L1_ENST00000289672.2_Intron|C7orf69_ENST00000418326.2_Missense_Mutation_p.N97D	NM_025031.2	NP_079307.2	Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	116						extracellular region (GO:0005576)				lung(2)	2						CATGGATGGAAATAACTGCTG	0.408																																						ENST00000418326.2																			0				lung(2)	2						c.(289-291)Aat>Gat		chromosome 7 open reading frame 69							82.0	79.0	80.0					7																	47859172		1889	4126	6015	SO:0001583	missense	80099					extracellular region		g.chr7:47859172A>G	BC113681	CCDS43581.1	7p12	2011-12-09			ENSG00000136275	ENSG00000136275			21911	protein-coding gene	gene with protein product							Standard	NM_025031		Approved	FLJ21075	uc003tnz.4	Q9H7B7	OTTHUMG00000155648	ENST00000258776.4:c.346A>G	7.37:g.47859172A>G	ENSP00000258776:p.Asn116Asp					C7orf69_ENST00000258776.4_Missense_Mutation_p.N116D|PKD1L1_ENST00000289672.2_Intron	p.N97D			Q9H7B7	CG069_HUMAN			4	402	+			116					A4D2F1|Q14CN7|Q75MJ5	Missense_Mutation	SNP	ENST00000258776.4	37	c.289A>G	CCDS43581.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273272	0.23221	.	.	ENSG00000136275	ENST00000258776;ENST00000418326	T	0.51817	0.69	4.32	-3.18	0.05186	.	.	.	.	.	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.33690	0.168	T	0.18650	-1.0330	9	0.87932	D	0	.	6.1774	0.20451	0.335:0.1688:0.4963:0.0	.	116	Q9H7B7	CG069_HUMAN	D	116;97	ENSP00000258776:N116D	ENSP00000258776:N116D	N	+	1	0	C7orf69	47825697	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.176000	0.09811	-0.459000	0.07013	-0.250000	0.11733	AAT		0.408	C7orf69-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340973.1	NM_025031		28	112	0	0	0	1	0	28	112				
POLR2E	5434	broad.mit.edu	37	19	1089931	1089931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1089931G>A	ENST00000215587.7	-	6	802	c.519C>T	c.(517-519)atC>atT	p.I173I	POLR2E_ENST00000586746.1_Silent_p.I173I|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	173					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGCCTGGATCCTGGGCA	0.662																																						ENST00000215587.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11						c.(517-519)atC>atT		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							24.0	30.0	28.0					19																	1089931		2203	4299	6502	SO:0001819	synonymous_variant	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1089931G>A		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.519C>T	19.37:g.1089931G>A						POLR2E_ENST00000586746.1_Silent_p.I173I|POLR2E_ENST00000585838.1_5'UTR	p.I173I			P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	802	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	173					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	ENST00000215587.7	37	c.519C>T	CCDS12056.1																																																																																				0.662	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		35	173	0	0	0	1	0	35	173				
VNN3	55350	broad.mit.edu	37	6	133044130	133044130	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133044130G>A	ENST00000207771.3	-	8	1510	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000427187.2_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	481					nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CTTCCATACAGGGCCATAACT	0.498																																						ENST00000207771.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(1438-1440)Ctg>Ttg		vanin 3							105.0	88.0	93.0					6																	133044130		876	1991	2867	SO:0001819	synonymous_variant	55350							g.chr6:133044130G>A	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.1438C>T	6.37:g.133044130G>A						VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000519686.2_3'UTR	p.L480L						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	8	1510	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Silent	SNP	ENST00000207771.3	37	c.1438C>T																																																																																					0.498	VNN3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028290		40	176	0	0	0	1	0	40	176				
OR10A5	144124	broad.mit.edu	37	11	6867249	6867249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6867249A>G	ENST00000299454.4	+	1	367	c.336A>G	c.(334-336)gaA>gaG	p.E112E	OR10A5_ENST00000379831.2_Silent_p.E116E			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGTAGCTGAATGCTTCCTCC	0.532																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(334-336)gaA>gaG		olfactory receptor, family 10, subfamily A, member 5							122.0	120.0	121.0					11																	6867249		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867249A>G	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.336A>G	11.37:g.6867249A>G						OR10A5_ENST00000379831.2_Silent_p.E116E	p.E112E			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	367	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	112					O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.336A>G	CCDS7773.1																																																																																				0.532	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		151	617	0	0	0	1	0	151	617				
FOXD3	27022	broad.mit.edu	37	1	63789347	63789347	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63789347G>A	ENST00000371116.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCGCGAGCCGGGCAACCCGG	0.637																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2																			0				breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(616-618)ccG>ccA		forkhead box D3							86.0	101.0	96.0					1																	63789347		2203	4300	6503	SO:0001819	synonymous_variant	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63789347G>A	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.618G>A	1.37:g.63789347G>A						RP4-792G4.2_ENST00000427268.1_RNA	p.P206P	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN			1	618	+			206					Q9BYM2|Q9UDD1	Silent	SNP	ENST00000371116.2	37	c.618G>A	CCDS624.1																																																																																				0.637	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			166	637	0	0	0	1	0	166	637				
GPD1	2819	broad.mit.edu	37	12	50499448	50499448	+	Missense_Mutation	SNP	G	G	A	rs1128867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50499448G>A	ENST00000301149.3	+	3	569	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.A90T	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	113			A -> P (in dbSNP:rs1128867). {ECO:0000269|PubMed:7772607}.		cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GAAGGCAAACGCCACTGGCAT	0.562																																					NSCLC(141;1402 1905 9497 13391 44868)	ENST00000301149.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(337-339)Gcc>Acc		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						70.0	58.0	62.0					12																	50499448		2203	4300	6503	SO:0001583	missense	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50499448G>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.337G>A	12.37:g.50499448G>A	ENSP00000301149:p.Ala113Thr					GPD1_ENST00000548814.1_Missense_Mutation_p.A90T|GPD1_ENST00000547190.1_3'UTR	p.A113T	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN			3	569	+			113		A -> P (in dbSNP:rs1128867).			F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	37	c.337G>A	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288161	0.40494	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.57907	0.37;0.37	5.39	-7.07	0.01563	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.470065	0.25291	N	0.031732	T	0.45975	0.1369	L	0.51422	1.61	0.33928	D	0.64173	D;B;B	0.56035	0.974;0.066;0.031	P;B;B	0.46510	0.519;0.047;0.04	T	0.62656	-0.6808	10	0.51188	T	0.08	-24.2271	15.4312	0.75102	0.5483:0.0:0.4517:0.0	.	113;90;113	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	T	113;113;90	ENSP00000301149:A113T;ENSP00000446768:A90T	ENSP00000301149:A113T	A	+	1	0	GPD1	48785715	0.009000	0.17119	0.064000	0.19789	0.718000	0.41266	0.206000	0.17375	-1.889000	0.01112	-1.267000	0.01435	GCC		0.562	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			36	207	0	0	0	1	0	36	207				
ZNF557	79230	broad.mit.edu	37	19	7081411	7081411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7081411G>A	ENST00000439035.2	+	6	507	c.267G>A	c.(265-267)gaG>gaA	p.E89E	ZNF557_ENST00000252840.6_Silent_p.E96E|ZNF557_ENST00000414706.1_Silent_p.E96E			Q8N988	ZN557_HUMAN	zinc finger protein 557	89	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCAGCTGGAGCAAGAAGATA	0.493																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(286-288)gaG>gaA		zinc finger protein 557							60.0	63.0	62.0					19																	7081411		2187	4295	6482	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7081411G>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.267G>A	19.37:g.7081411G>A						ZNF557_ENST00000252840.6_Silent_p.E96E|ZNF557_ENST00000439035.2_Silent_p.E89E	p.E96E	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	6	761	+			89			KRAB.		Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.288G>A	CCDS45945.1																																																																																				0.493	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		29	105	0	0	0	1	0	29	105				
CBY1	25776	broad.mit.edu	37	22	39067160	39067160	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39067160C>A	ENST00000216029.3	+	4	404	c.270C>A	c.(268-270)ctC>ctA	p.L90L	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	90	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGAACAATCTCTTGCGGCTGA	0.567																																						ENST00000216029.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4						c.(268-270)ctC>ctA		chibby homolog 1 (Drosophila)							139.0	134.0	136.0					22																	39067160		2203	4300	6503	SO:0001819	synonymous_variant	25776				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding	g.chr22:39067160C>A	BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"""chibby CTNNB1-mediated transcription inhibitor"""	607757	"""chromosome 22 open reading frame 2"", ""PKD2 interactor, golgi and endoplasmic reticulum associated 1"""	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.270C>A	22.37:g.39067160C>A						RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	p.L90L	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN			4	404	+	Melanoma(58;0.04)		90			Minimal region for the interaction with PKD2.		B2R4S2|Q66GT6|Q9UIK9	Silent	SNP	ENST00000216029.3	37	c.270C>A	CCDS13974.1																																																																																				0.567	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373		114	447	1	0	6.87118e-46	1	8.4335e-46	114	447				
RPP30	10556	broad.mit.edu	37	10	92655655	92655655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92655655C>T	ENST00000371703.3	+	9	869	c.598C>T	c.(598-600)Cca>Tca	p.P200S	RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000413330.1_Missense_Mutation_p.P200S	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	200					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AATAAGAGGGCCATATGACGT	0.279																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(598-600)Cca>Tca		ribonuclease P/MRP 30kDa subunit							78.0	83.0	82.0					10																	92655655		2203	4295	6498	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92655655C>T	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.598C>T	10.37:g.92655655C>T	ENSP00000360768:p.Pro200Ser					RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Missense_Mutation_p.P200S	p.P200S	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			9	633	+			200					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.598C>T	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387205	0.82902	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.57436	0.4;0.42;0.53	5.79	5.79	0.91817	Polymerase/histidinol phosphatase-like (1);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.986;0.994	T	0.77245	-0.2659	10	0.66056	D	0.02	-19.3429	18.8041	0.92029	0.0:1.0:0.0:0.0	.	200;200	P78346;E9PB02	RPP30_HUMAN;.	S	200;200;190;222;144	ENSP00000360768:P200S;ENSP00000389182:P200S;ENSP00000277882:P222S	ENSP00000277882:P222S	P	+	1	0	RPP30	92645635	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	5.882000	0.69714	2.732000	0.93576	0.557000	0.71058	CCA		0.279	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		32	277	0	0	0	1	0	32	277				
CCT5	22948	broad.mit.edu	37	5	10256191	10256191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10256191C>T	ENST00000280326.4	+	4	876	c.456C>T	c.(454-456)agC>agT	p.S152S	CCT5_ENST00000506600.1_Silent_p.S59S|CCT5_ENST00000515390.1_Silent_p.S97S|CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000503026.1_Silent_p.S131S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	152					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACAAGATCAGCGATAGCGTCC	0.483																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(454-456)agC>agT		chaperonin containing TCP1, subunit 5 (epsilon)							98.0	75.0	83.0					5																	10256191		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10256191C>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.456C>T	5.37:g.10256191C>T						CCT5_ENST00000506600.1_Silent_p.S59S|CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000515390.1_Silent_p.S97S|CCT5_ENST00000503026.1_Silent_p.S131S	p.S152S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			4	876	+			152					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.456C>T	CCDS3877.1																																																																																				0.483	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			15	131	0	0	0	1	0	15	131				
CEP152	22995	broad.mit.edu	37	15	49064762	49064762	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064762T>C	ENST00000380950.2	-	13	1891	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Silent_p.Q475Q|CEP152_ENST00000399334.3_Silent_p.Q568Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	568					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAGGTCATTTTGTAACTGAG	0.388																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1702-1704)caA>caG		centrosomal protein 152kDa							167.0	152.0	157.0					15																	49064762		1899	4126	6025	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064762T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1704A>G	15.37:g.49064762T>C						CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Silent_p.Q475Q|CEP152_ENST00000399334.3_Silent_p.Q568Q	p.Q568Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1891	-		all_lung(180;0.0428)	568					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.1704A>G	CCDS58361.1																																																																																				0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		75	435	0	0	0	1	0	75	435				
CYP17A1	1586	broad.mit.edu	37	10	104594579	104594579	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104594579C>A	ENST00000369887.3	-	3	800	c.629G>T	c.(628-630)aGc>aTc	p.S210I	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	210					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GCTGTCTTTGCTCAGGTTGTC	0.483											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(628-630)aGc>aTc		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						205.0	179.0	188.0					10																	104594579		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104594579C>A	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.629G>T	10.37:g.104594579C>A	ENSP00000358903:p.Ser210Ile		OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	172	CYP17A1_ENST00000489268.1_5'UTR	p.S210I	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	800	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	210					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.629G>T	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	c	17.74	3.464642	0.63513	.	.	ENSG00000148795	ENST00000369887	T	0.70045	-0.45	5.8	-5.97	0.02227	.	0.583949	0.18293	N	0.145653	T	0.54549	0.1865	L	0.39147	1.195	0.09310	N	1	P	0.38565	0.637	P	0.47705	0.555	T	0.52704	-0.8540	10	0.48119	T	0.1	.	3.7562	0.08586	0.0791:0.2916:0.1865:0.4427	.	210	P05093	CP17A_HUMAN	I	210	ENSP00000358903:S210I	ENSP00000358903:S210I	S	-	2	0	CYP17A1	104584569	0.453000	0.25721	0.000000	0.03702	0.002000	0.02628	1.205000	0.32308	-0.686000	0.05170	-0.358000	0.07595	AGC		0.483	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		74	387	1	0	2.15109e-50	1	2.66539e-50	74	387				
ZNF311	282890	broad.mit.edu	37	6	28963774	28963774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28963774G>A	ENST00000377179.3	-	7	1517	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCTTCCCACAGTCCCTGCACT	0.512																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1003-1005)gaC>gaT		zinc finger protein 311							85.0	60.0	69.0					6																	28963774		1511	2708	4219	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963774G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1005C>T	6.37:g.28963774G>A						ZNF311_ENST00000483450.1_5'UTR	p.D335D	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1517	-			335					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.1005C>T	CCDS34357.1																																																																																				0.512	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		6	210	0	0	0	1	0	6	210				
DLGAP4	22839	broad.mit.edu	37	20	35128951	35128951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128951C>T	ENST00000373907.2	+	9	2648	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R814W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	817					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAAACAGAGCGGCTGGAAGG	0.607																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2440-2442)Cgg>Tgg		discs, large (Drosophila) homolog-associated protein 4							45.0	48.0	47.0					20																	35128951		2194	4287	6481	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128951C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2449C>T	20.37:g.35128951C>T	ENSP00000363014:p.Arg817Trp					DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R817W|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W	p.R814W			Q9Y2H0	DLGP4_HUMAN			10	2920	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	817					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2440C>T		.	.	.	.	.	.	.	.	.	.	C	17.04	3.288095	0.59976	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.86	2.47	0.30058	.	0.049608	0.85682	D	0.000000	T	0.70701	0.3254	M	0.92169	3.28	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.998;0.297	D;D;P;B	0.76575	0.961;0.988;0.745;0.092	T	0.79843	-0.1632	10	0.87932	D	0	.	14.8936	0.70627	0.4214:0.5786:0.0:0.0	.	123;278;817;814	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	W	814;814;817;817;278	ENSP00000363023:R814W;ENSP00000384954:R814W;ENSP00000363014:R817W;ENSP00000341633:R817W;ENSP00000345700:R278W	ENSP00000341633:R817W	R	+	1	2	DLGAP4	34562365	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.053000	0.41326	0.718000	0.32166	0.655000	0.94253	CGG		0.607	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		61	350	0	0	0	1	0	61	350				
PGAP1	80055	broad.mit.edu	37	2	197767389	197767389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197767389C>A	ENST00000354764.4	-	5	841	c.727G>T	c.(727-729)Gga>Tga	p.G243*	PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	243					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCCCGGAATCCTCCAGCTACA	0.363																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(727-729)Gga>Tga		post-GPI attachment to proteins 1							89.0	96.0	94.0					2																	197767389		2203	4300	6503	SO:0001587	stop_gained	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197767389C>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.727G>T	2.37:g.197767389C>A	ENSP00000346809:p.Gly243*					PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*	p.G243*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			5	841	-			243					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Nonsense_Mutation	SNP	ENST00000354764.4	37	c.727G>T	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947838	0.97134	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3279	18.3984	0.90507	0.0:1.0:0.0:0.0	.	.	.	.	X	243;243;201	.	ENSP00000346809:G243X	G	-	1	0	PGAP1	197475634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.144000	0.64832	2.573000	0.86826	0.655000	0.94253	GGA		0.363	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		17	406	1	0	9.7654e-05	1	9.93505e-05	17	406				
MYH7	4625	broad.mit.edu	37	14	23900200	23900200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23900200C>A	ENST00000355349.3	-	10	967	c.805G>T	c.(805-807)Gaa>Taa	p.E269*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	269	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGGATTTTTCCAGAAGATCT	0.408																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(805-807)Gaa>Taa		myosin, heavy chain 7, cardiac muscle, beta							66.0	72.0	70.0					14																	23900200		2202	4300	6502	SO:0001587	stop_gained	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900200C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.805G>T	14.37:g.23900200C>A	ENSP00000347507:p.Glu269*						p.E269*	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	10	967	-	all_cancers(95;2.54e-05)		269			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.805G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	37	6.208540	0.97376	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4652	0.75394	0.0:1.0:0.0:0.0	.	.	.	.	X	269	.	ENSP00000347507:E269X	E	-	1	0	MYH7	22970040	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.395000	0.79876	1.862000	0.54008	0.305000	0.20034	GAA		0.408	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		9	471	1	0	0.0477658	1	0.0478703	9	471				
RGAG4	340526	broad.mit.edu	37	X	71351008	71351008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71351008G>A	ENST00000545866.1	-	1	750	c.383C>T	c.(382-384)cCg>cTg	p.P128L	RGAG4_ENST00000609883.1_Missense_Mutation_p.P128L|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000535692.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	128	Poly-Pro.									cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CAGCGCCGGCGGGGGCGGGAT	0.672																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(382-384)cCg>cTg		retrotransposon gag domain containing 4							5.0	5.0	5.0					X																	71351008		1553	3539	5092	SO:0001583	missense	340526							g.chrX:71351008G>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.383C>T	X.37:g.71351008G>A	ENSP00000441366:p.Pro128Leu					RGAG4_ENST00000479991.1_Missense_Mutation_p.P128L|NHSL2_ENST00000540800.1_Intron	p.P128L			Q5HYW3	RGAG4_HUMAN			1	750	-	Renal(35;0.156)		128			Poly-Pro.		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.383C>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	0.848	-0.739485	0.03088	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12672	2.66;2.66	4.32	-2.01	0.07410	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.42275	-0.9461	8	.	.	.	-0.0463	3.2472	0.06801	0.3953:0.0:0.2926:0.3121	.	128	Q5HYW3	RGAG4_HUMAN	L	128	ENSP00000441366:P128L;ENSP00000418667:P128L	.	P	-	2	0	RGAG4	71267733	0.040000	0.19996	0.000000	0.03702	0.015000	0.08874	-0.106000	0.10890	-0.650000	0.05423	-0.909000	0.02823	CCG		0.672	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		26	59	0	0	0	1	0	26	59				
OR10P1	121130	broad.mit.edu	37	12	56031342	56031342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56031342C>A	ENST00000309675.2	+	1	699	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCGCATCCTGGGTGCCAT	0.552																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(667-669)Ctg>Atg		olfactory receptor, family 10, subfamily P, member 1							123.0	104.0	110.0					12																	56031342		2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031342C>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.667C>A	12.37:g.56031342C>A	ENSP00000308082:p.Leu223Met						p.L223M	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	699	+			223					B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.667C>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	C	8.657	0.899701	0.17686	.	.	ENSG00000175398	ENST00000309675	T	0.00237	8.47	4.44	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	N	0.002009	T	0.00468	0.0015	M	0.86097	2.795	0.25970	N	0.982518	D	0.76494	0.999	D	0.75484	0.986	T	0.44205	-0.9343	10	0.72032	D	0.01	.	3.2804	0.06913	0.1783:0.5524:0.173:0.0963	.	223	Q8NGE3	O10P1_HUMAN	M	223	ENSP00000308082:L223M	ENSP00000308082:L223M	L	+	1	2	OR10P1	54317609	0.000000	0.05858	0.019000	0.16419	0.002000	0.02628	-1.227000	0.02950	0.598000	0.29829	-0.304000	0.09214	CTG		0.552	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			135	573	1	0	4.9668e-63	1	6.26529e-63	135	573				
C18orf54	162681	broad.mit.edu	37	18	51889266	51889266	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51889266T>C	ENST00000300091.5	+	4	1047	c.715T>C	c.(715-717)Tca>Cca	p.S239P	C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P|C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	239						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGCAGACAGATCATGGGAAAA	0.343																																						ENST00000300091.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(715-717)Tca>Cca		chromosome 18 open reading frame 54							82.0	81.0	82.0					18																	51889266		2203	4300	6503	SO:0001583	missense	162681					extracellular region		g.chr18:51889266T>C	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.715T>C	18.37:g.51889266T>C	ENSP00000300091:p.Ser239Pro					C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P|C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P	p.S239P	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	4	1047	+			239					I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	c.715T>C	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.339833	0.24339	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.48522	0.81;0.81	5.12	3.91	0.45181	.	0.077624	0.53938	D	0.000060	T	0.59362	0.2188	L	0.57536	1.79	0.38418	D	0.946099	P;D	0.61080	0.717;0.989	B;D	0.63957	0.352;0.92	T	0.61888	-0.6970	10	0.54805	T	0.06	-1.4013	9.9255	0.41489	0.1578:0.0:0.0:0.8422	.	400;239	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	P	239;400	ENSP00000300091:S239P;ENSP00000372368:S400P	ENSP00000300091:S239P	S	+	1	0	C18orf54	50143264	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.740000	0.55082	0.747000	0.32809	0.402000	0.26972	TCA		0.343	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		48	225	0	0	0	1	0	48	225				
ZNF124	7678	broad.mit.edu	37	1	247319927	247319927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247319927G>T	ENST00000543802.2	-	4	1086	c.997C>A	c.(997-999)Ctt>Att	p.L333I	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.L271I|ZNF124_ENST00000491848.1_5'Flank			Q15973	ZN124_HUMAN	zinc finger protein 124	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGCTTCCAAAGGGTACTAGCA	0.378																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(811-813)Ctt>Att		zinc finger protein 124							88.0	89.0	89.0					1																	247319927		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247319927G>T	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.997C>A	1.37:g.247319927G>T	ENSP00000440365:p.Leu333Ile					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.L333I	p.L271I	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	949	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		333					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.811C>A		.	.	.	.	.	.	.	.	.	.	G	13.92	2.381254	0.42207	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T;T	0.53857	0.6;0.6	0.689	-0.402	0.12404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72581	0.3478	M	0.92367	3.3	0.09310	N	1	P;D	0.62365	0.69;0.991	P;D	0.72982	0.484;0.979	T	0.59484	-0.7446	9	0.66056	D	0.02	.	4.9245	0.13887	0.2653:0.0:0.7347:0.0	.	333;271	Q15973;Q15973-4	ZN124_HUMAN;.	I	294;271;277;137	ENSP00000340749:L271I;ENSP00000440365:L277I	ENSP00000340749:L271I	L	-	1	0	ZNF124	245386550	0.177000	0.23109	0.000000	0.03702	0.745000	0.42441	0.673000	0.25203	-0.168000	0.10853	0.306000	0.20318	CTT		0.378	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		13	325	1	0	4.36969e-10	1	4.6211e-10	13	325				
SCG2	7857	broad.mit.edu	37	2	224463404	224463404	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463404T>A	ENST00000305409.2	-	2	829	c.597A>T	c.(595-597)gaA>gaT	p.E199D		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAAGACAGATTCCAATGTAG	0.423																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(595-597)gaA>gaT		secretogranin II							189.0	172.0	178.0					2																	224463404		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463404T>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.597A>T	2.37:g.224463404T>A	ENSP00000304133:p.Glu199Asp						p.E199D	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	829	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	199					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.597A>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201959	0.58234	.	.	ENSG00000171951	ENST00000305409	T	0.01745	4.66	5.65	-0.275	0.12906	.	0.199090	0.45361	D	0.000371	T	0.06142	0.0159	L	0.60455	1.87	0.36118	D	0.845319	D	0.71674	0.998	D	0.67725	0.953	T	0.11991	-1.0565	10	0.62326	D	0.03	.	12.1782	0.54198	0.0:0.5511:0.0:0.4489	.	199	P13521	SCG2_HUMAN	D	199	ENSP00000304133:E199D	ENSP00000304133:E199D	E	-	3	2	SCG2	224171648	0.216000	0.23585	0.999000	0.59377	0.990000	0.78478	-0.391000	0.07323	0.146000	0.19002	0.477000	0.44152	GAA		0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		146	690	0	0	0	1	0	146	690				
RAD54L	8438	broad.mit.edu	37	1	46714235	46714235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46714235T>G	ENST00000371975.4	+	2	729	c.55T>G	c.(55-57)Tcc>Gcc	p.S19A	RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	19					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGAAGGCAGGTCCTGTGATGA	0.547								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(55-57)Tcc>Gcc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							66.0	69.0	68.0					1																	46714235		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46714235T>G	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.55T>G	1.37:g.46714235T>G	ENSP00000361043:p.Ser19Ala					RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	p.S19A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	2	729	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	19					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.55T>G	CCDS532.1	.	.	.	.	.	.	.	.	.	.	T	4.225	0.040707	0.08196	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	-3.48	0.04739	.	1.052970	0.07322	N	0.877717	T	0.71307	0.3324	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60021	-0.7344	10	0.08179	T	0.78	1.6501	6.677	0.23100	0.0:0.1292:0.3674:0.5034	.	19	Q92698	RAD54_HUMAN	A	19	ENSP00000396113:S19A;ENSP00000361043:S19A	ENSP00000361043:S19A	S	+	1	0	RAD54L	46486822	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.654000	0.05354	-0.283000	0.09115	0.533000	0.62120	TCC		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		19	178	0	0	0	1	0	19	178				
POLK	51426	broad.mit.edu	37	5	74892094	74892094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74892094C>T	ENST00000241436.4	+	13	1748	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*	CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*|POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	526					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GAAACACCAACAAAGGAGCAT	0.378								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1576-1578)Caa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							51.0	53.0	52.0					5																	74892094		2203	4300	6503	SO:0001587	stop_gained	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892094C>T	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1576C>T	5.37:g.74892094C>T	ENSP00000241436:p.Gln526*					POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*	p.Q526*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1748	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	526					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	ENST00000241436.4	37	c.1576C>T	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	37	6.605983	0.97701	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	.	.	.	5.66	5.66	0.87406	.	0.050091	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-15.8568	19.7417	0.96234	0.0:1.0:0.0:0.0	.	.	.	.	X	526;328;328;436	.	ENSP00000241436:Q526X	Q	+	1	0	POLK	74927850	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.627000	0.74258	2.661000	0.90470	0.655000	0.94253	CAA		0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		7	218	0	0	0	1	0	7	218				
CASP5	838	broad.mit.edu	37	11	104871201	104871201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104871201C>T	ENST00000260315.3	-	6	738	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000393141.2_Missense_Mutation_p.A260T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	247					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCAGCAAATGCCCTCAGCACT	0.458																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(778-780)Gca>Aca		caspase 5, apoptosis-related cysteine peptidase							92.0	83.0	86.0					11																	104871201		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104871201C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.739G>A	11.37:g.104871201C>T	ENSP00000260315:p.Ala247Thr					CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T|CASP5_ENST00000260315.3_Missense_Mutation_p.A247T|CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000393139.2_3'UTR	p.A260T	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	6	809	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	247					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.778G>A	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	5.411	0.260999	0.10239	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	4.06	-0.909	0.10514	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.945475	0.08952	N	0.870019	T	0.16300	0.0392	L	0.56340	1.77	0.09310	N	1	B;B;B;B	0.30033	0.016;0.056;0.266;0.122	B;B;B;B	0.19946	0.013;0.009;0.027;0.016	T	0.29792	-1.0000	10	0.20519	T	0.43	.	7.7663	0.28982	0.0:0.4791:0.0:0.5209	.	105;189;247;260	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	T	260;105;247;189;260;105	ENSP00000376849:A260T;ENSP00000398130:A105T;ENSP00000260315:A247T;ENSP00000388365:A189T;ENSP00000436877:A260T;ENSP00000434471:A105T	ENSP00000260315:A247T	A	-	1	0	CASP5	104376411	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.648000	0.05391	-0.001000	0.14495	0.205000	0.17691	GCA		0.458	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		44	244	0	0	0	1	0	44	244				
SLC17A3	10786	broad.mit.edu	37	6	25851014	25851014	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25851014T>G	ENST00000360657.3	-	6	855	c.570A>C	c.(568-570)gaA>gaC	p.E190D	SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D|SLC17A3_ENST00000397060.4_Missense_Mutation_p.E268D			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	190					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATATGATGTATTCTTTTTCTG	0.408																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(802-804)gaA>gaC		solute carrier family 17 (organic anion transporter), member 3							158.0	153.0	155.0					6																	25851014		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25851014T>G	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.570A>C	6.37:g.25851014T>G	ENSP00000353873:p.Glu190Asp					SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D|SLC17A3_ENST00000360657.3_Missense_Mutation_p.E190D	p.E268D	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			7	913	-			190					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.804A>C	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119339	0.37436	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59083	0.29;0.29;0.29	4.81	0.898	0.19264	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.48767	D	0.000164	T	0.33000	0.0848	L	0.48877	1.53	0.31091	N	0.710852	B;P;B;P	0.35700	0.41;0.516;0.193;0.516	B;B;B;B	0.43867	0.241;0.434;0.306;0.267	T	0.18524	-1.0334	10	0.31617	T	0.26	.	7.0945	0.25301	0.0:0.2741:0.0:0.7259	.	190;249;268;190	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	D	268;190;190	ENSP00000380250:E268D;ENSP00000353873:E190D;ENSP00000355307:E190D	ENSP00000353873:E190D	E	-	3	2	SLC17A3	25958993	0.724000	0.28038	0.971000	0.41717	0.599000	0.36880	-0.729000	0.04920	-0.020000	0.14032	0.477000	0.44152	GAA		0.408	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			66	299	0	0	0	1	0	66	299				
ACVR1B	91	broad.mit.edu	37	12	52380666	52380666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52380666G>A	ENST00000257963.4	+	7	1278	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000563121.1_Intron	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTTTAAATGTGCTGATATTTA	0.413																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1201-1203)Gct>Act		activin A receptor, type IB	Adenosine triphosphate(DB00171)						129.0	125.0	127.0					12																	52380666		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52380666G>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1201G>A	12.37:g.52380666G>A	ENSP00000257963:p.Ala401Thr					ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T	p.A401T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	7	1278	+			401			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1201G>A	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044077	0.93685	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.78314	0.982;0.982;0.991;0.914	D	0.94589	0.7786	10	0.38643	T	0.18	.	18.3723	0.90411	0.0:0.0:1.0:0.0	.	442;401;401;401	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	T	401;442;401;401;349	ENSP00000257963:A401T;ENSP00000442656:A442T;ENSP00000390477:A401T;ENSP00000397550:A401T;ENSP00000442885:A349T	ENSP00000257963:A401T	A	+	1	0	ACVR1B	50666933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.668000	0.90789	0.563000	0.77884	GCT		0.413	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		86	383	0	0	0	1	0	86	383				
ZNF793	390927	broad.mit.edu	37	19	38028553	38028553	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028553A>C	ENST00000587143.1	+	6	1228	c.993A>C	c.(991-993)aaA>aaC	p.K331N	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N|ZNF793_ENST00000445217.1_Missense_Mutation_p.K331N			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACATCGAAAAATGCACACAG	0.453																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(991-993)aaA>aaC		zinc finger protein 793							89.0	100.0	96.0					19																	38028553		2168	4274	6442	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028553A>C	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.993A>C	19.37:g.38028553A>C	ENSP00000468605:p.Lys331Asn					ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.K331N|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N	p.K331N			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1028	+			331					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.993A>C	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523175	0.64747	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.01084	5.36;5.36	4.13	3.11	0.35812	.	0.000000	0.39985	N	0.001207	T	0.02848	0.0085	L	0.48174	1.505	0.19945	N	0.999944	P	0.51791	0.948	P	0.57425	0.82	T	0.31806	-0.9930	10	0.87932	D	0	.	8.5071	0.33195	0.9037:0.0:0.0963:0.0	.	331	E9PGN4	.	N	331;331;331;330	ENSP00000444355:K331N;ENSP00000396402:K331N	ENSP00000318811:K330N	K	+	3	2	ZNF793	42720393	0.000000	0.05858	0.825000	0.32803	0.997000	0.91878	-0.968000	0.03817	0.737000	0.32582	0.528000	0.53228	AAA		0.453	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		28	159	0	0	0	1	0	28	159				
ZNF45	7596	broad.mit.edu	37	19	44418337	44418337	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44418337C>T	ENST00000269973.5	-	10	2341	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.Q417Q	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	417					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCATCACACTGATACGGTT	0.468																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1249-1251)caG>caA		zinc finger protein 45							89.0	85.0	86.0					19																	44418337		2203	4300	6503	SO:0001819	synonymous_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418337C>T	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1251G>A	19.37:g.44418337C>T						RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.Q417Q	p.Q417Q	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	2341	-			417					P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	c.1251G>A	CCDS12632.1																																																																																				0.468	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		80	404	0	0	0	1	0	80	404				
DCP1B	196513	broad.mit.edu	37	12	2064720	2064720	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2064720T>C	ENST00000280665.6	-	6	608	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A|DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	177					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TCAGAACAGGTTTTACACTGA	0.353																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(529-531)Acc>Gcc		decapping mRNA 1B							153.0	150.0	151.0					12																	2064720		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064720T>C	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.529A>G	12.37:g.2064720T>C	ENSP00000280665:p.Thr177Ala					DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A	p.T177A	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	608	-			177					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.529A>G	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532341	0.64972	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18502	2.22;2.21;2.21	5.73	3.21	0.36854	.	0.236512	0.43919	D	0.000515	T	0.12135	0.0295	L	0.57536	1.79	0.32763	N	0.504865	P;B	0.38788	0.647;0.278	B;B	0.30179	0.091;0.112	T	0.18650	-1.0330	10	0.42905	T	0.14	-21.607	3.3778	0.07243	0.1345:0.0739:0.1399:0.6516	.	75;177	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	A	177;75;51	ENSP00000280665:T177A;ENSP00000380358:T75A;ENSP00000444374:T51A	ENSP00000280665:T177A	T	-	1	0	DCP1B	1934981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.953000	0.29162	0.978000	0.38470	0.533000	0.62120	ACC		0.353	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		82	512	0	0	0	1	0	82	512				
NIPBL	25836	broad.mit.edu	37	5	37045656	37045656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37045656G>A	ENST00000282516.8	+	37	6954	c.6455G>A	c.(6454-6456)cGg>cAg	p.R2152Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2152					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCACTATGTCGGCATTTTGAT	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6454-6456)cGg>cAg		Nipped-B homolog (Drosophila)							204.0	210.0	208.0					5																	37045656		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37045656G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6455G>A	5.37:g.37045656G>A	ENSP00000282516:p.Arg2152Gln					NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		37	6954	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2152					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6455G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601606	0.96614	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65732	-0.17;-0.17	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.987;0.989	T	0.77225	-0.2666	10	0.51188	T	0.08	-7.466	19.7999	0.96502	0.0:0.0:1.0:0.0	.	2152;2152	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	2152	ENSP00000282516:R2152Q;ENSP00000406266:R2152Q	ENSP00000282516:R2152Q	R	+	2	0	NIPBL	37081413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.388000	0.97237	2.753000	0.94483	0.557000	0.71058	CGG		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		218	886	0	0	0	1	0	218	886				
GAD2	2572	broad.mit.edu	37	10	26559594	26559594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26559594C>T	ENST00000376261.3	+	10	1504	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	334					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCGTGAGTGCCACAGCTGGA	0.458																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1000-1002)gCc>gTc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						171.0	164.0	166.0					10																	26559594		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26559594C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1001C>T	10.37:g.26559594C>T	ENSP00000365437:p.Ala334Val					GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	p.A334V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			10	1504	+			334					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1001C>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884271	0.91814	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.54866	0.55;0.55	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.097447	0.64402	D	0.000001	T	0.78672	0.4320	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.83351	-0.0003	10	0.87932	D	0	-17.2435	19.2442	0.93895	0.0:1.0:0.0:0.0	.	334	Q05329	DCE2_HUMAN	V	334	ENSP00000365437:A334V;ENSP00000259271:A334V	ENSP00000259271:A334V	A	+	2	0	GAD2	26599600	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.601000	0.67606	2.660000	0.90430	0.643000	0.83706	GCC		0.458	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		36	772	0	0	0	1	0	36	772				
PKMYT1	9088	broad.mit.edu	37	16	3022958	3022958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3022958G>A	ENST00000262300.8	-	9	2004	c.1496C>T	c.(1495-1497)aCc>aTc	p.T499I	PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PKMYT1_ENST00000440027.2_3'UTR|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I|PAQR4_ENST00000293978.8_3'UTR	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	499	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGGCTCAGGTTGGGTCTAG	0.577																																						ENST00000262300.8																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1495-1497)aCc>aTc		protein kinase, membrane associated tyrosine/threonine 1							56.0	53.0	54.0					16																	3022958		2195	4296	6491	SO:0001583	missense	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3022958G>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1496C>T	16.37:g.3022958G>A	ENSP00000262300:p.Thr499Ile					PKMYT1_ENST00000440027.2_3'UTR|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_3'UTR|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I	p.T499I	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN			9	2004	-			499			Interaction with CDC2-CCNB1.|Interaction with PIN1.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	c.1496C>T	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	9.293	1.051002	0.19827	.	.	ENSG00000127564	ENST00000262300;ENST00000402679	T	0.58940	0.3	5.34	0.64	0.17752	.	0.858383	0.10244	N	0.698096	T	0.32882	0.0844	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.16289	0.015;0.015	T	0.14868	-1.0457	10	0.66056	D	0.02	.	4.123	0.10114	0.0873:0.2402:0.5013:0.1713	.	430;499	B4DXD4;Q99640	.;PMYT1_HUMAN	I	499	ENSP00000262300:T499I	ENSP00000262300:T499I	T	-	2	0	PKMYT1	2962959	0.030000	0.19436	0.761000	0.31378	0.963000	0.63663	0.014000	0.13333	0.230000	0.21059	0.561000	0.74099	ACC		0.577	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		18	82	0	0	0	1	0	18	82				
SMARCA2	6595	broad.mit.edu	37	9	2104068	2104068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2104068C>T	ENST00000382203.1	+	23	3400	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1064	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAATTGAGAGCGACTAATCAC	0.443																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3190-3192)gCg>gTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							229.0	210.0	217.0					9																	2104068		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2104068C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3191C>T	9.37:g.2104068C>T	ENSP00000371638:p.Ala1064Val					SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V	p.A1064V			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	23	3400	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1064			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3191C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440013	0.96168	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.69	5.69	0.88448	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.84511	2.7	0.80722	D	1	B;D;D	0.76494	0.347;0.999;0.999	B;D;D	0.78314	0.048;0.991;0.98	D	0.90030	0.4134	10	0.56958	D	0.05	-21.8405	19.8145	0.96560	0.0:1.0:0.0:0.0	.	665;1064;1064	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	V	1064	ENSP00000265773:A1064V;ENSP00000349788:A1064V;ENSP00000371638:A1064V;ENSP00000371629:A1064V	ENSP00000265773:A1064V	A	+	2	0	SMARCA2	2094068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.050000	0.71063	2.683000	0.91414	0.563000	0.77884	GCG		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		121	581	0	0	0	1	0	121	581				
NOL8	55035	broad.mit.edu	37	9	95069174	95069174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95069174T>G	ENST00000535387.1	-	9	2704	c.2705A>C	c.(2704-2706)aAa>aCa	p.K902T	NOL8_ENST00000442668.2_Missense_Mutation_p.K940T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T|NOL8_ENST00000545558.1_Missense_Mutation_p.K940T|NOL8_ENST00000358855.4_Missense_Mutation_p.K872T					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACTTAAATTTCTTAGCAGC	0.343																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2818-2820)aAa>aCa		nucleolar protein 8							182.0	181.0	181.0					9																	95069174		1843	4098	5941	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95069174T>G	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2705A>C	9.37:g.95069174T>G	ENSP00000441300:p.Lys902Thr					NOL8_ENST00000358855.4_Missense_Mutation_p.K872T|NOL8_ENST00000442668.2_Missense_Mutation_p.K940T|NOL8_ENST00000535387.1_Missense_Mutation_p.K902T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T	p.K940T			Q76FK4	NOL8_HUMAN			11	3311	-			940						Missense_Mutation	SNP	ENST00000535387.1	37	c.2819A>C	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896931	0.72639	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.55	5.55	0.83447	.	0.249376	0.44902	D	0.000408	T	0.37679	0.1012	L	0.54908	1.71	0.38998	D	0.959286	P;D	0.53312	0.879;0.959	B;P	0.47744	0.36;0.556	T	0.38415	-0.9662	10	0.72032	D	0.01	-25.1845	13.73	0.62781	0.0:0.0:0.0:1.0	.	872;940	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	T	940;904;872;940;902;872;940	ENSP00000401177:K940T;ENSP00000351723:K872T;ENSP00000441140:K940T;ENSP00000441300:K902T;ENSP00000440709:K872T;ENSP00000414112:K940T	ENSP00000351723:K872T	K	-	2	0	NOL8	94108995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.577000	0.36515	2.238000	0.73509	0.477000	0.44152	AAA		0.343	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		116	455	0	0	0	1	0	116	455				
MDN1	23195	broad.mit.edu	37	6	90417165	90417165	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90417165C>T	ENST00000369393.3	-	52	8044	c.7929G>A	c.(7927-7929)cgG>cgA	p.R2643R	MDN1_ENST00000428876.1_Silent_p.R2643R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2643					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTAAAAACCCGTTTTTCCC	0.338																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7927-7929)cgG>cgA		MDN1, midasin homolog (yeast)							121.0	123.0	122.0					6																	90417165		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90417165C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7929G>A	6.37:g.90417165C>T						MDN1_ENST00000428876.1_Silent_p.R2643R	p.R2643R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	52	8044	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2643					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.7929G>A	CCDS5024.1																																																																																				0.338	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			28	256	0	0	0	1	0	28	256				
PIK3R6	146850	broad.mit.edu	37	17	8731458	8731458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8731458G>A	ENST00000311434.9	-	12	1602	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	455					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										ATGTAGTAGAGCTGCAGGCTG	0.652																																						ENST00000311434.9																			0											c.(1363-1365)Ctc>Ttc		phosphoinositide-3-kinase, regulatory subunit 6							88.0	91.0	90.0					17																	8731458		1991	4165	6156	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8731458G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1363C>T	17.37:g.8731458G>A	ENSP00000475670:p.Leu455Phe					PIK3R6_ENST00000434064.2_5'UTR	p.L455F	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			12	1602	-			455					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1363C>T																																																																																					0.652	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		34	351	0	0	0	1	0	34	351				
SNAPC1	6617	broad.mit.edu	37	14	62234006	62234006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62234006C>T	ENST00000216294.4	+	3	469	c.365C>T	c.(364-366)gCa>gTa	p.A122V	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	122	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CATTTTGATGCAGCTTATATT	0.348																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(364-366)gCa>gTa		small nuclear RNA activating complex, polypeptide 1, 43kDa							84.0	85.0	84.0					14																	62234006		2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62234006C>T	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.365C>T	14.37:g.62234006C>T	ENSP00000216294:p.Ala122Val					RP11-618G20.1_ENST00000555937.1_RNA	p.A122V	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	3	469	+			122			SNAPC3-binding.			Missense_Mutation	SNP	ENST00000216294.4	37	c.365C>T	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810662	0.50421	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.96	5.08	0.68730	.	0.095752	0.64402	N	0.000001	T	0.45796	0.1360	N	0.20357	0.565	0.46701	D	0.999162	B	0.26120	0.142	B	0.31869	0.137	T	0.34403	-0.9830	9	0.26408	T	0.33	-3.289	15.1923	0.73053	0.0:0.9328:0.0:0.0672	.	122	Q16533	SNPC1_HUMAN	V	122	.	ENSP00000216294:A122V	A	+	2	0	SNAPC1	61303759	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.014000	0.57145	1.533000	0.49186	0.655000	0.94253	GCA		0.348	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		75	255	0	0	0	1	0	75	255				
CPT1B	1375	broad.mit.edu	37	22	51011411	51011411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51011411G>A	ENST00000360719.2	-	11	1382	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Silent_p.A212A|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000395650.2_Silent_p.A415A|CPT1B_ENST00000405237.3_Silent_p.A415A|CPT1B_ENST00000312108.7_Silent_p.A415A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	415					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGAAGAAAGCGGCACGCTCGA	0.592																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1243-1245)gcC>gcT		carnitine palmitoyltransferase 1B (muscle)							97.0	91.0	93.0					22																	51011411		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51011411G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1245C>T	22.37:g.51011411G>A						CPT1B_ENST00000312108.7_Silent_p.A415A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000405237.3_Silent_p.A415A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Silent_p.A212A|CPT1B_ENST00000395650.2_Silent_p.A415A	p.A415A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	11	1382	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	415					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.1245C>T	CCDS14098.1																																																																																				0.592	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		130	483	0	0	0	1	0	130	483				
VGLL3	389136	broad.mit.edu	37	3	87017995	87017995	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87017995G>A	ENST00000398399.2	-	3	1045	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.R228W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGTGGTGCCGCATGTACACG	0.612																																						ENST00000398399.2																			1	Substitution - Missense(1)	p.R228W(1)	breast(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(682-684)Cgg>Tgg		vestigial like 3 (Drosophila)							92.0	93.0	93.0					3																	87017995		2180	4284	6464	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017995G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.682C>T	3.37:g.87017995G>A	ENSP00000381436:p.Arg228Trp					VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	p.R228W	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1045	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	228			His-rich.			Missense_Mutation	SNP	ENST00000398399.2	37	c.682C>T	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802435|3.802435	0.70682|0.70682	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.46451	.|0.87;0.88	5.81|5.81	4.89|4.89	0.63831|0.63831	.|.	.|0.396637	.|0.23523	.|N	.|0.047269	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.22421|0.22421	0.69|0.69	0.26973|0.26973	N|N	0.965531|0.965531	.|P	.|0.51653	.|0.947	.|B	.|0.41299	.|0.353	T|T	0.15464|0.15464	-1.0436|-1.0436	5|10	.|0.62326	.|D	.|0.03	-10.5859|-10.5859	8.5415|8.5415	0.33395|0.33395	0.0749:0.0:0.7388:0.1863|0.0749:0.0:0.7388:0.1863	.|.	.|228	.|A8MV65	.|VGLL3_HUMAN	V|W	161|228	.|ENSP00000381436:R228W;ENSP00000373199:R228W	.|ENSP00000373199:R228W	A|R	-|-	2|1	0|2	VGLL3|VGLL3	87100685|87100685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.617000|2.617000	0.46385|0.46385	1.291000|1.291000	0.44653|0.44653	0.511000|0.511000	0.50034|0.50034	GCG|CGG		0.612	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		69	336	0	0	0	1	0	69	336				
PPWD1	23398	broad.mit.edu	37	5	64863418	64863418	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64863418T>G	ENST00000261308.5	+	2	347	c.275T>G	c.(274-276)gTt>gGt	p.V92G	PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G|PPWD1_ENST00000538977.1_Intron	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	92					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CATAGAGATGTTATCACCCAT	0.328																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(274-276)gTt>gGt		peptidylprolyl isomerase domain and WD repeat containing 1							111.0	112.0	112.0					5																	64863418		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64863418T>G	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.275T>G	5.37:g.64863418T>G	ENSP00000261308:p.Val92Gly					PPWD1_ENST00000538977.1_Intron|PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G	p.V92G	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	2	347	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	92					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.275T>G	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227554	0.79576	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000505380	T;T;T	0.62364	0.03;0.03;0.31	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054812	0.64402	D	0.000001	T	0.80449	0.4625	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.66716	0.878;0.946	T	0.81138	-0.1069	10	0.33940	T	0.23	.	15.8173	0.78612	0.0:0.0:0.0:1.0	.	62;92	F5H7P7;Q96BP3	.;PPWD1_HUMAN	G	92;62;11	ENSP00000261308:V92G;ENSP00000442371:V62G;ENSP00000423234:V11G	ENSP00000261308:V92G	V	+	2	0	PPWD1	64899174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.266000	0.72540	2.151000	0.67156	0.533000	0.62120	GTT		0.328	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		43	206	0	0	0	1	0	43	206				
C6orf106	64771	broad.mit.edu	37	6	34574651	34574651	+	Missense_Mutation	SNP	A	A	G	rs149349132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34574651A>G	ENST00000374023.3	-	4	785	c.542T>C	c.(541-543)gTg>gCg	p.V181A	C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	181										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AAGTCCACCCACCTCCACACT	0.463																																						ENST00000374023.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(541-543)gTg>gCg		chromosome 6 open reading frame 106							68.0	61.0	63.0					6																	34574651		2203	4300	6503	SO:0001583	missense	64771							g.chr6:34574651A>G	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.542T>C	6.37:g.34574651A>G	ENSP00000363135:p.Val181Ala					C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	p.V181A	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN			4	785	-			181					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	c.542T>C	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	A	9.088	1.001044	0.19121	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	N	0.02665	-0.54	0.45477	D	0.998447	B;B	0.11235	0.002;0.004	B;B	0.13407	0.009;0.006	T	0.23619	-1.0183	9	0.11182	T	0.66	-9.5435	10.0971	0.42482	0.9248:0.0:0.0752:0.0	.	115;181	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	A	181;115;107	.	ENSP00000363133:V107A	V	-	2	0	C6orf106	34682629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.165000	0.71891	2.164000	0.68074	0.454000	0.30748	GTG		0.463	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		55	331	0	0	0	1	0	55	331				
VPS13B	157680	broad.mit.edu	37	8	100286495	100286495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100286495G>A	ENST00000358544.2	+	18	2696	c.2585G>A	c.(2584-2586)aGc>aAc	p.S862N	VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N|VPS13B_ENST00000395996.1_Missense_Mutation_p.S862N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	862					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTACTGCAGCACATCATTG	0.433																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2584-2586)aGc>aAc		vacuolar protein sorting 13 homolog B (yeast)							112.0	117.0	115.0					8																	100286495		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100286495G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2585G>A	8.37:g.100286495G>A	ENSP00000351346:p.Ser862Asn					VPS13B_ENST00000358544.2_Missense_Mutation_p.S862N|VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N	p.S862N			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		18	2696	+	Breast(36;3.73e-07)		862					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2585G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918911	0.73098	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.70986	-0.53;-0.53;-0.24	5.65	5.65	0.86999	.	0.057164	0.64402	D	0.000001	T	0.76737	0.4029	L	0.32530	0.975	0.51012	D	0.999903	D;B;B;D	0.67145	0.996;0.211;0.134;0.996	P;B;B;P	0.61070	0.883;0.13;0.061;0.883	T	0.76929	-0.2777	10	0.54805	T	0.06	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	862;862;862;862	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	N	862	ENSP00000349685:S862N;ENSP00000351346:S862N;ENSP00000379318:S862N	ENSP00000349685:S862N	S	+	2	0	VPS13B	100355671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.826000	0.97356	0.563000	0.77884	AGC		0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		106	499	0	0	0	1	0	106	499				
DOCK1	1793	broad.mit.edu	37	10	128908593	128908593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128908593C>T	ENST00000280333.6	+	25	2644	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	845					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCGAAATCGTCCACAGTGACC	0.428																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(2533-2535)gtC>gtT		dedicator of cytokinesis 1							81.0	76.0	78.0					10																	128908593		1920	4148	6068	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128908593C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2535C>T	10.37:g.128908593C>T							p.V845V	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	25	2644	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	845					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.2535C>T																																																																																					0.428	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		21	74	0	0	0	1	0	21	74				
GCNT2	2651	broad.mit.edu	37	6	10529724	10529724	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10529724G>T	ENST00000379597.3	+	1	1136	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	194					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGCGGGCAAGACTTTCCCCT	0.527																																						ENST00000379597.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(580-582)Gac>Tac		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							45.0	48.0	47.0					6																	10529724		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529724G>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.580G>T	6.37:g.10529724G>T	ENSP00000368917:p.Asp194Tyr					GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y	p.D194Y			Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1136	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	194						Missense_Mutation	SNP	ENST00000379597.3	37	c.580G>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167435	0.78339	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.23552	1.9;1.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73714	-0.3896	10	0.87932	D	0	-15.1425	19.2323	0.93845	0.0:0.0:1.0:0.0	.	194;193	Q8N0V5;Q08M29	GNT2A_HUMAN;.	Y	194	ENSP00000419411:D194Y;ENSP00000368917:D194Y	ENSP00000368917:D194Y	D	+	1	0	GCNT2	10637710	1.000000	0.71417	0.979000	0.43373	0.542000	0.35054	9.640000	0.98453	2.636000	0.89361	0.655000	0.94253	GAC		0.527	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		26	259	1	0	5.61819e-17	1	6.18885e-17	26	259				
TTN	7273	broad.mit.edu	37	2	179500957	179500957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179500957G>A	ENST00000591111.1	-	176	36642	c.36418C>T	c.(36418-36420)Cgt>Tgt	p.R12140C	TTN_ENST00000359218.5_Missense_Mutation_p.R4841C|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R13781C|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12140	Ig-like 81.				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)			TTTACAAAACGCACAGGAAGT	0.358																																						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.(41341-41343)Cgt>Tgt		titin							29.0	26.0	27.0					2																	179500957		1869	4102	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500957G>A	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.36418C>T	2.37:g.179500957G>A	ENSP00000465570:p.Arg12140Cys					TTN_ENST00000359218.5_Missense_Mutation_p.R4841C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R12140C	p.R13781C	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)		226	41565	-			12140			Ig-like 94.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.41341C>T		.	.	.	.	.	.	.	.	.	.	G	12.32	1.901701	0.33535	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.62	5.62	0.85841	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50514	0.1620	L	0.57536	1.79	0.50171	D	0.999854	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;P;P;P	0.47528	0.549;0.549;0.549;0.549	T	0.55477	-0.8135	9	0.87932	D	0	.	19.6536	0.95828	0.0:0.0:1.0:0.0	.	4716;4841;4908;12140	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	11213;4716;4908;4841;4716	ENSP00000343764:R11213C;ENSP00000434586:R4716C;ENSP00000340554:R4908C;ENSP00000352154:R4841C	ENSP00000340554:R4908C	R	-	1	0	TTN	179209202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.924000	0.70054	2.652000	0.90054	0.585000	0.79938	CGT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	63	0	0	0	1	0	20	63				
C3	718	broad.mit.edu	37	19	6694476	6694476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694476C>A	ENST00000245907.6	-	24	3212	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1040					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCTGCCGCTTCTCTAGGCCGA	0.622																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3118-3120)gaG>gaT		complement component 3							108.0	84.0	92.0					19																	6694476		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694476C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3120G>T	19.37:g.6694476C>A	ENSP00000245907:p.Glu1040Asp						p.E1040D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3212	-			1040					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3120G>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951487	0.02285	.	.	ENSG00000125730	ENST00000245907	T	0.38401	1.14	5.76	-2.6	0.06190	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.649357	0.16985	N	0.191542	T	0.18257	0.0438	L	0.31804	0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.25751	T	0.34	.	3.7554	0.08584	0.101:0.2922:0.3974:0.2094	.	1040	P01024	CO3_HUMAN	D	1040	ENSP00000245907:E1040D	ENSP00000245907:E1040D	E	-	3	2	C3	6645476	0.000000	0.05858	0.164000	0.22755	0.039000	0.13416	-1.638000	0.02013	-0.149000	0.11215	-0.142000	0.14014	GAG		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		63	328	1	0	3.13296e-38	1	3.77304e-38	63	328				
GBP4	115361	broad.mit.edu	37	1	89652754	89652754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89652754G>A	ENST00000355754.6	-	9	1539	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	481						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AACCACCTGTGACTGCAGGAA	0.517																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1441-1443)tCa>tTa		guanylate binding protein 4							137.0	117.0	124.0					1																	89652754		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89652754G>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1442C>T	1.37:g.89652754G>A	ENSP00000359490:p.Ser481Leu						p.S481L	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	9	1539	-			481					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1442C>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410312	0.42715	.	.	ENSG00000162654	ENST00000355754	T	0.02606	4.23	4.3	1.27	0.21489	Guanylate-binding protein, C-terminal (3);	0.733487	0.12731	N	0.443803	T	0.03305	0.0096	M	0.92317	3.295	0.09310	N	1	P	0.37573	0.6	B	0.42653	0.394	T	0.21655	-1.0239	10	0.48119	T	0.1	.	5.8011	0.18414	0.0935:0.0:0.4101:0.4964	.	481	Q96PP9	GBP4_HUMAN	L	481	ENSP00000359490:S481L	ENSP00000359490:S481L	S	-	2	0	GBP4	89425342	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.528000	0.23002	0.156000	0.19299	-1.130000	0.01982	TCA		0.517	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		40	313	0	0	0	1	0	40	313				
TRIO	7204	broad.mit.edu	37	5	14369491	14369491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14369491C>T	ENST00000344204.4	+	18	3099	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	TRIO_ENST00000537187.1_Silent_p.S1025S|TRIO_ENST00000509967.2_Silent_p.S976S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1025					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGTCTGCAGCGTCCTCGAGA	0.587																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3073-3075)agC>agT		trio Rho guanine nucleotide exchange factor							67.0	71.0	70.0					5																	14369491		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14369491C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3075C>T	5.37:g.14369491C>T						TRIO_ENST00000509967.2_Silent_p.S976S|TRIO_ENST00000537187.1_Silent_p.S1025S	p.S1025S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			18	3099	+	Lung NSC(4;0.000742)		1025					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.3075C>T	CCDS3883.1																																																																																				0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		51	289	0	0	0	1	0	51	289				
PLK4	10733	broad.mit.edu	37	4	128815033	128815033	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128815033C>A	ENST00000270861.5	+	13	2833	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P	PLK4_ENST00000507249.1_Silent_p.P792P|PLK4_ENST00000514379.1_Silent_p.P812P|PLK4_ENST00000515069.1_Silent_p.P775P|PLK4_ENST00000513090.1_Silent_p.P821P|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	853					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						tccttaatccctctgtaagta	0.388																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2557-2559)ccC>ccA		polo-like kinase 4							56.0	55.0	55.0					4																	128815033		2203	4300	6503	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128815033C>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2559C>A	4.37:g.128815033C>A						PLK4_ENST00000507249.1_Silent_p.P792P|PLK4_ENST00000515069.1_Silent_p.P775P|PLK4_ENST00000513090.1_Silent_p.P821P|PLK4_ENST00000514379.1_Silent_p.P812P	p.P853P	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			13	2833	+			853					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.2559C>A	CCDS3735.1																																																																																				0.388	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			37	186	1	0	2.20474e-14	1	2.39557e-14	37	186				
LRRTM1	347730	broad.mit.edu	37	2	80529833	80529833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80529833C>A	ENST00000295057.3	-	2	1768	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	371					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAGGTGGCCGCTGGTGGGCTC	0.726										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1111-1113)aGc>aTc		leucine rich repeat transmembrane neuronal 1							15.0	16.0	15.0					2																	80529833		2194	4290	6484	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529833C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1112G>T	2.37:g.80529833C>A	ENSP00000295057:p.Ser371Ile	HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000402739.4_Intron	p.S371I	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1768	-			371					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1112G>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111276	0.37242	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42131	0.98;0.98	5.32	5.32	0.75619	.	0.181583	0.47093	U	0.000241	T	0.26085	0.0636	N	0.08118	0	0.50813	D	0.999893	B	0.16396	0.017	B	0.12837	0.008	T	0.08513	-1.0718	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	371	Q86UE6	LRRT1_HUMAN	I	371	ENSP00000295057:S371I;ENSP00000386646:S371I	.	S	-	2	0	LRRTM1	80383344	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.825000	0.69286	2.452000	0.82932	0.655000	0.94253	AGC		0.726	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		51	161	1	0	9.22156e-22	1	1.04059e-21	51	161				
IGKV1D-43	28891	broad.mit.edu	37	2	90248923	90248923	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:90248923G>A	ENST00000468879.1	+	0	185									immunoglobulin kappa variable 1D-43																		ACACAGCATGGACATGAGGGT	0.547																																						ENST00000468879.1																			0																				96.0	101.0	99.0					2																	90248923		1984	4162	6146			0							g.chr2:90248923G>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90248923G>A														0	185	+									RNA	SNP	ENST00000468879.1	37																																																																																						0.547	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		113	409	0	0	0	1	0	113	409				
PIP5K1B	8395	broad.mit.edu	37	9	71532675	71532675	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71532675C>T	ENST00000265382.3	+	9	1288	c.983C>T	c.(982-984)aCa>aTa	p.T328I	PIP5K1B_ENST00000541509.1_Splice_Site_p.T328I	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	328	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AACCCAGACACGTAAGTGCAG	0.517																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.e9+1		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							72.0	68.0	70.0					9																	71532675		2203	4300	6503	SO:0001630	splice_region_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71532675C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.983+1C>T	9.37:g.71532675C>T						PIP5K1B_ENST00000541509.1_Splice_Site_p.T328_splice	p.T328_splice	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	9	1288	+			328			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Splice_Site	SNP	ENST00000265382.3	37	c.983_splice	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702089	0.48307	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.110476	0.56097	D	0.000021	T	0.36193	0.0958	M	0.66439	2.03	0.58432	D	0.999992	P	0.44877	0.845	B	0.40782	0.34	T	0.13629	-1.0502	10	0.20046	T	0.44	-10.8614	19.4619	0.94921	0.0:1.0:0.0:0.0	.	328	O14986	PI51B_HUMAN	I	328;328;328;275	ENSP00000438082:T328I;ENSP00000265382:T328I	ENSP00000265382:T328I	T	+	2	0	PIP5K1B	70722495	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.287000	0.59001	2.592000	0.87571	0.655000	0.94253	ACA		0.517	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558	Missense_Mutation	50	229	0	0	0	1	0	50	229				
SLC36A1	206358	broad.mit.edu	37	5	150853243	150853243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150853243G>T	ENST00000243389.3	+	8	956	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	245					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GAGGATCCCAGACCCCAGCCA	0.458																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(733-735)Gac>Tac		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						180.0	196.0	191.0					5																	150853243		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150853243G>T	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.733G>T	5.37:g.150853243G>T	ENSP00000243389:p.Asp245Tyr					SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y	p.D245Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	956	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	245					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.733G>T	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566284	0.27915	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.32515	4.41;4.41;4.41;1.45	5.34	-0.673	0.11373	.	0.550392	0.19839	N	0.104888	T	0.29223	0.0727	M	0.64676	1.99	0.40614	D	0.9817	B;B	0.21606	0.025;0.058	B;B	0.29353	0.075;0.101	T	0.08472	-1.0720	10	0.39692	T	0.17	.	9.5424	0.39260	0.4302:0.0:0.5698:0.0	.	245;245	E7EW39;Q7Z2H8	.;S36A1_HUMAN	Y	245;245;245;245;4	ENSP00000428140:D245Y;ENSP00000243389:D245Y;ENSP00000430305:D245Y;ENSP00000428738:D4Y	ENSP00000243389:D245Y	D	+	1	0	SLC36A1	150833436	0.111000	0.22076	0.872000	0.34217	0.956000	0.61745	0.393000	0.20817	-0.333000	0.08476	0.655000	0.94253	GAC		0.458	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		210	934	1	0	3.33071e-83	1	4.26405e-83	210	934				
CCNE1	898	broad.mit.edu	37	19	30312955	30312955	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30312955A>G	ENST00000262643.3	+	9	1037	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C|CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	253					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CTGAATGTATACATGCAGGTT	0.433			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(757-759)tAc>tGc		cyclin E1							180.0	174.0	176.0					19																	30312955		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30312955A>G	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.758A>G	19.37:g.30312955A>G	ENSP00000262643:p.Tyr253Cys					CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C|CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C	p.Y253C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		9	1037	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		253					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.758A>G	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129424	0.77549	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.23950	1.88;1.88;1.88	6.08	6.08	0.98989	Cyclin, C-terminal (1);Cyclin-like (1);	0.051716	0.85682	D	0.000000	T	0.52821	0.1758	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58814	-0.7570	10	0.87932	D	0	.	10.985	0.47516	0.8609:0.0:0.0:0.1391	.	253	P24864	CCNE1_HUMAN	C	253;210;238	ENSP00000262643:Y253C;ENSP00000350625:Y210C;ENSP00000410179:Y238C	ENSP00000262643:Y253C	Y	+	2	0	CCNE1	35004795	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.330000	0.79181	2.333000	0.79357	0.482000	0.46254	TAC		0.433	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		167	682	0	0	0	1	0	167	682				
TOX2	84969	broad.mit.edu	37	20	42683124	42683124	+	Silent	SNP	C	C	T	rs200547615		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683124C>T	ENST00000358131.5	+	5	1072	c.864C>T	c.(862-864)atC>atT	p.I288I	TOX2_ENST00000341197.4_Silent_p.I279I|TOX2_ENST00000423191.2_Silent_p.I237I|TOX2_ENST00000372999.1_Silent_p.I237I|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	288					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGTCCAAAATCGTGGCCTCCA	0.592																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(862-864)atC>atT		TOX high mobility group box family member 2							65.0	58.0	60.0					20																	42683124		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42683124C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.864C>T	20.37:g.42683124C>T						TOX2_ENST00000435864.2_Silent_p.I157I|TOX2_ENST00000372999.1_Silent_p.I237I|TOX2_ENST00000423191.1_Silent_p.I237I|TOX2_ENST00000341197.3_Silent_p.I279I	p.I288I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	1072	+		Myeloproliferative disorder(115;0.00452)	288					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.864C>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965003	0.34659	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.44	-6.51	0.01878	.	.	.	.	.	T	0.65460	0.2693	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72253	-0.4347	5	0.87932	D	0	.	10.9044	0.47071	0.0887:0.3023:0.0:0.6089	.	.	.	.	L	45	.	ENSP00000362083:S45L	S	+	2	0	TOX2	42116538	0.002000	0.14202	0.813000	0.32504	0.767000	0.43475	-1.352000	0.02619	-1.207000	0.02637	-1.608000	0.00805	TCG		0.592	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			45	168	0	0	0	1	0	45	168				
FAM120B	84498	broad.mit.edu	37	6	170628015	170628015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170628015G>A	ENST00000476287.1	+	2	1645	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N|FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	513					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CATATGTACAGATCCTATATC	0.388																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1537-1539)Gat>Aat		family with sequence similarity 120B							81.0	83.0	82.0					6																	170628015		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170628015G>A	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1537G>A	6.37:g.170628015G>A	ENSP00000417970:p.Asp513Asn					FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N|FAM120B_ENST00000252510.9_Intron	p.D513N	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1645	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	513					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1537G>A	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571134	0.28003	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08282	3.12;3.11;3.13	2.48	2.48	0.30137	.	2.356560	0.01316	N	0.010789	T	0.12263	0.0298	L	0.56769	1.78	0.19575	N	0.999965	D;D	0.76494	0.999;0.978	D;P	0.68943	0.961;0.556	T	0.36792	-0.9733	10	0.21540	T	0.41	.	11.0653	0.47972	0.0:0.0:1.0:0.0	.	513;513	Q96EK7;F2Z2E1	F120B_HUMAN;.	N	525;536;513	ENSP00000444125:D525N;ENSP00000440125:D536N;ENSP00000417970:D513N	ENSP00000436640:D513N	D	+	1	0	FAM120B	170469940	0.014000	0.17966	0.011000	0.14972	0.029000	0.11900	0.501000	0.22578	1.683000	0.51011	0.561000	0.74099	GAT		0.388	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		73	400	0	0	0	1	0	73	400				
TTN	7273	broad.mit.edu	37	2	179455352	179455352	+	Missense_Mutation	SNP	C	C	T	rs141973925	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179455352C>T	ENST00000591111.1	-	254	56401	c.56177G>A	c.(56176-56178)cGg>cAg	p.R18726Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11427Q|TTN_ENST00000460472.2_Missense_Mutation_p.R11302Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20367Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18726	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q. {ECO:0000269|PubMed:17344846}.		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)			TTTGATGGGCCGGCAAGCTTT	0.433													C|||	6	0.00119808	0.0008	0.0029	5008	,	,		22262	0.0		0.003	False		,,,				2504	0.0					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.(61099-61101)cGg>cAg		titin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	5,3765		0,5,1880	109.0	107.0	107.0		33905,53396,34280,34481	6.1	1.0	2	dbSNP_134	107	35,8191		0,35,4078	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,40,5958	TT,TC,CC		0.4255,0.1326,0.3334	probably-damaging,probably-damaging,probably-damaging,probably-damaging	11302/26927,17799/33424,11427/27052,11494/27119	179455352	40,11956	1885	4113	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455352C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56177G>A	2.37:g.179455352C>T	ENSP00000465570:p.Arg18726Gln					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11427Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799Q|TTN_ENST00000460472.2_Missense_Mutation_p.R11302Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18726Q|TTN-AS1_ENST00000592689.1_RNA	p.R20367Q	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)		304	61324	-			18726			Fibronectin type-III 47.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.61100G>A		3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	15.40	2.821552	0.50633	0.001326	0.004255	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	6.11	6.11	0.99139	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60818	0.2298	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.59101	-0.7517	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11302;11427;11494;18726	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17799;11302;11494;11427;11300	ENSP00000343764:R17799Q;ENSP00000434586:R11302Q;ENSP00000340554:R11494Q;ENSP00000352154:R11427Q	ENSP00000340554:R11494Q	R	-	2	0	TTN	179163598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.976000	0.70484	2.906000	0.99361	0.655000	0.94253	CGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		105	521	0	0	0	1	0	105	521				
DNA2	1763	broad.mit.edu	37	10	70196900	70196900	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70196900C>T	ENST00000358410.3	-	10	1564	c.1514G>A	c.(1513-1515)gGt>gAt	p.G505D	DNA2_ENST00000399179.2_Missense_Mutation_p.G505D|DNA2_ENST00000399180.2_Missense_Mutation_p.G591D	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	505	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGGTATGGCACCATGTTTACA	0.388																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(1771-1773)gGt>gAt		DNA replication helicase/nuclease 2							181.0	171.0	174.0					10																	70196900		1880	4115	5995	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70196900C>T	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1514G>A	10.37:g.70196900C>T	ENSP00000351185:p.Gly505Asp					DNA2_ENST00000399179.2_Missense_Mutation_p.G505D|DNA2_ENST00000358410.3_Missense_Mutation_p.G505D	p.G591D			P51530	DNA2L_HUMAN			10	1771	-			505					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.1772G>A		.	.	.	.	.	.	.	.	.	.	C	24.1	4.493986	0.84962	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94046	-2.82;-3.34;-2.8	5.4	5.4	0.78164	.	0.174839	0.51477	D	0.000090	D	0.95981	0.8691	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.982;1.0	D	0.93763	0.7068	10	0.12103	T	0.63	.	19.1874	0.93649	0.0:1.0:0.0:0.0	.	505;505	F8VR31;P51530	.;DNA2L_HUMAN	D	505;591;505;505	ENSP00000382133:G591D;ENSP00000382132:G505D;ENSP00000351185:G505D	ENSP00000351185:G505D	G	-	2	0	DNA2	69866906	1.000000	0.71417	0.988000	0.46212	0.734000	0.41952	5.150000	0.64869	2.522000	0.85027	0.557000	0.71058	GGT		0.388	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			12	618	0	0	0	1	0	12	618				
TNXB	7148	broad.mit.edu	37	6	32016203	32016203	+	Missense_Mutation	SNP	A	A	G	rs548583752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016203A>G	ENST00000375244.3	-	29	10183	c.9982T>C	c.(9982-9984)Ttc>Ctc	p.F3328L	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L			P22105	TENX_HUMAN	tenascin XB	3373	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAGAGCAGGAACTTGTACTTG	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9982-9984)Ttc>Ctc		tenascin XB							25.0	30.0	28.0					6																	32016203		1953	4119	6072	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32016203A>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9982T>C	6.37:g.32016203A>G	ENSP00000364393:p.Phe3328Leu					TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L	p.F3328L			P22105	TENX_HUMAN			29	10183	-			3373			Fibronectin type-III 25.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9982T>C		.	.	.	.	.	.	.	.	.	.	A	17.37	3.372198	0.61624	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59906	0.23;0.23	4.34	4.34	0.51931	.	0.724493	0.12437	N	0.469004	T	0.39963	0.1098	M	0.67700	2.07	0.26896	N	0.967218	P	0.41131	0.739	B	0.40901	0.343	T	0.25984	-1.0116	10	0.38643	T	0.18	.	9.0473	0.36354	0.8142:0.1858:0.0:0.0	.	3326	P22105-3	.	L	3328;3326	ENSP00000364393:F3328L;ENSP00000364396:F3326L	ENSP00000364393:F3328L	F	-	1	0	TNXB	32124181	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	2.749000	0.47492	1.819000	0.53055	0.402000	0.26972	TTC		0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		23	143	0	0	0	1	0	23	143				
TAF6	6878	broad.mit.edu	37	7	99704934	99704934	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99704934C>A	ENST00000344095.4	-	15	2494	c.1969G>T	c.(1969-1971)Gct>Tct	p.A657S	TAF6_ENST00000453269.2_Missense_Mutation_p.A657S|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S|TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Missense_Mutation_p.A714S|TAF6_ENST00000437822.2_Missense_Mutation_p.A694S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	657					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCTGGAGCTGGAGGGGGA	0.667																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1969-1971)Gct>Tct		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							28.0	35.0	33.0					7																	99704934		2200	4290	6490	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99704934C>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1969G>T	7.37:g.99704934C>A	ENSP00000344537:p.Ala657Ser					TAF6_ENST00000437822.2_Missense_Mutation_p.A694S|TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|TAF6_ENST00000453269.2_Missense_Mutation_p.A657S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S|TAF6_ENST00000472509.1_Missense_Mutation_p.A714S	p.A657S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			15	2494	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		657					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1969G>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699128	0.68501	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.52526	0.74;0.66;0.74;0.74;0.69	5.52	4.64	0.57946	.	0.000000	0.49305	D	0.000145	T	0.26629	0.0651	N	0.08118	0	0.27046	N	0.963891	B;B;B;B;B	0.30914	0.3;0.201;0.127;0.127;0.127	B;B;B;B;B	0.32211	0.067;0.142;0.039;0.039;0.067	T	0.15896	-1.0421	10	0.25106	T	0.35	-19.4876	10.343	0.43891	0.0:0.9118:0.0:0.0882	.	694;647;647;657;581	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	S	657;714;657;657;581;694	ENSP00000389575:A657S;ENSP00000419760:A714S;ENSP00000416396:A657S;ENSP00000344537:A657S;ENSP00000399982:A694S	ENSP00000344537:A657S	A	-	1	0	TAF6	99542870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.084000	0.57650	1.569000	0.49696	0.643000	0.83706	GCT		0.667	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		9	269	1	0	2.17888e-05	1	2.22852e-05	9	269				
SUPT6H	6830	broad.mit.edu	37	17	27027385	27027385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27027385C>T	ENST00000314616.6	+	35	4944	c.4661C>T	c.(4660-4662)gCc>gTc	p.A1554V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1554					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTGTGAATGCCCTGCCTCAG	0.572																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4660-4662)gCc>gTc		suppressor of Ty 6 homolog (S. cerevisiae)							142.0	126.0	131.0					17																	27027385		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027385C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4661C>T	17.37:g.27027385C>T	ENSP00000319104:p.Ala1554Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	p.A1554V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			35	4944	+	Lung NSC(42;0.00431)		1554					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.4661C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.760925	0.69763	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.07	5.07	0.68467	.	0.058184	0.64402	D	0.000002	T	0.37461	0.1004	N	0.22421	0.69	0.80722	D	1	P	0.40970	0.734	B	0.31751	0.135	T	0.26326	-1.0106	9	0.31617	T	0.26	-13.4042	18.4501	0.90700	0.0:1.0:0.0:0.0	.	1554	Q7KZ85	SPT6H_HUMAN	V	1554	.	ENSP00000319104:A1554V	A	+	2	0	SUPT6H	24051512	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.209000	0.77916	2.364000	0.80123	0.650000	0.86243	GCC		0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		140	614	0	0	0	1	0	140	614				
SEC24C	9632	broad.mit.edu	37	10	75510920	75510920	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75510920C>A	ENST00000339365.2	+	4	389	c.227C>A	c.(226-228)gCt>gAt	p.A76D	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	76					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)|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(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACAGCACAGGCTCCTTGTGGC	0.517																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(226-228)gCt>gAt		SEC24 family member C							83.0	70.0	74.0					10																	75510920		2203	4300	6503	SO:0001583	missense	9632				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	protein binding|zinc ion binding	g.chr10:75510920C>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.227C>A	10.37:g.75510920C>A	ENSP00000343405:p.Ala76Asp					SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D	p.A76D	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			4	389	+	Prostate(51;0.0112)		76					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.227C>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990813	0.35131	.	.	ENSG00000176986	ENST00000345254;ENST00000339365	T;T	0.78246	-1.16;-1.16	5.58	1.53	0.23141	.	0.912535	0.09395	N	0.808044	T	0.54515	0.1863	N	0.08118	0	0.09310	N	0.999997	B	0.23735	0.09	B	0.23419	0.046	T	0.43540	-0.9385	10	0.35671	T	0.21	-0.3216	2.8206	0.05470	0.1174:0.4822:0.1251:0.2752	.	76	P53992	SC24C_HUMAN	D	76	ENSP00000321845:A76D;ENSP00000343405:A76D	ENSP00000343405:A76D	A	+	2	0	SEC24C	75180926	0.844000	0.29557	0.963000	0.40424	0.984000	0.73092	0.228000	0.17814	0.363000	0.24346	0.655000	0.94253	GCT		0.517	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			41	210	1	0	3.09479e-21	1	3.48195e-21	41	210				
TMEM98	26022	broad.mit.edu	37	17	31263420	31263420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31263420C>T	ENST00000579849.1	+	6	799	c.368C>T	c.(367-369)gCc>gTc	p.A123V	TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V|TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	123						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGACTTCAGCCAGTGTCAGC	0.572																																						ENST00000579849.1																			0				kidney(2)|large_intestine(1)	3						c.(367-369)gCc>gTc		transmembrane protein 98							119.0	106.0	110.0					17																	31263420		2203	4300	6503	SO:0001583	missense	26022					endoplasmic reticulum|integral to membrane		g.chr17:31263420C>T	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.368C>T	17.37:g.31263420C>T	ENSP00000463245:p.Ala123Val					TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V|TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V	p.A123V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		6	799	+		Ovarian(249;0.182)|Breast(31;0.244)	123					E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	37	c.368C>T	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364878	0.82463	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.51325	0.71;0.87;0.88;0.71	5.47	5.47	0.80525	.	0.056029	0.64402	D	0.000001	T	0.40595	0.1123	L	0.29908	0.895	0.46167	D	0.998907	B	0.31413	0.322	B	0.31245	0.126	T	0.17258	-1.0375	10	0.54805	T	0.06	.	16.8304	0.85942	0.0:1.0:0.0:0.0	.	123	Q9Y2Y6	TMM98_HUMAN	V	123	ENSP00000378138:A123V;ENSP00000261713:A123V;ENSP00000398446:A123V;ENSP00000406394:A123V	ENSP00000261713:A123V	A	+	2	0	TMEM98	28287533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.145000	0.77365	1.081000	0.41110	0.655000	0.94253	GCC		0.572	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		57	294	0	0	0	1	0	57	294				
PPM1K	152926	broad.mit.edu	37	4	89199713	89199713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89199713G>T	ENST00000608933.1	-	2	412	c.23C>A	c.(22-24)aCt>aAt	p.T8N	PPM1K_ENST00000514204.1_Missense_Mutation_p.T8N|PPM1K_ENST00000295908.7_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000508256.1_Intron	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	8					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTGACCAAAGTAATTAAGGC	0.507																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(22-24)aCt>aAt		protein phosphatase, Mg2+/Mn2+ dependent, 1K							48.0	46.0	47.0					4																	89199713		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199713G>T	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.23C>A	4.37:g.89199713G>T	ENSP00000477341:p.Thr8Asn					PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_Missense_Mutation_p.T8N	p.T8N	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	412	-		Hepatocellular(203;0.114)	8					B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.23C>A	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416855	0.25552	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.45668	1.95;0.89;0.89	3.78	3.78	0.43462	.	0.574252	0.18711	N	0.133296	T	0.26702	0.0653	N	0.19112	0.55	0.28371	N	0.92	B;B;B	0.14012	0.009;0.004;0.0	B;B;B	0.15484	0.013;0.004;0.001	T	0.07770	-1.0755	10	0.25751	T	0.34	-19.8191	11.2292	0.48901	0.0:0.0:0.8164:0.1836	.	8;8;8	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	N	8	ENSP00000295908:T8N;ENSP00000424155:T8N;ENSP00000324761:T8N	ENSP00000295908:T8N	T	-	2	0	PPM1K	89418737	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.660000	0.25009	2.420000	0.82092	0.491000	0.48974	ACT		0.507	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		42	156	1	0	3.43241e-23	1	3.89856e-23	42	156				
CCRL2	9034	broad.mit.edu	37	3	46449860	46449860	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46449860C>A	ENST00000399036.3	+	2	642	c.290C>A	c.(289-291)gCt>gAt	p.A97D	RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Missense_Mutation_p.A97D|CCRL2_ENST00000400880.3_Missense_Mutation_p.A97D|CCRL2_ENST00000357392.4_Missense_Mutation_p.A109D	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	97					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGGCTCATGCTGGGGGCGAT	0.433																																						ENST00000399036.3																			0											c.(289-291)gCt>gAt									86.0	85.0	85.0					3																	46449860		2006	4156	6162	SO:0001583	missense	0							g.chr3:46449860C>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.290C>A	3.37:g.46449860C>A	ENSP00000381994:p.Ala97Asp					ACKR5_ENST00000400882.2_Missense_Mutation_p.A97D|ACKR5_ENST00000357392.4_Missense_Mutation_p.A109D|ACKR5_ENST00000400880.3_Missense_Mutation_p.A97D	p.A97D	NM_003965.4	NP_003956.2					2	642	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.290C>A	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090831	0.36855	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.25	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	3.140400	0.01209	N	0.007788	T	0.29321	0.0730	N	0.17474	0.49	0.09310	N	1	B;B	0.20671	0.038;0.047	B;B	0.19391	0.015;0.025	T	0.30851	-0.9964	10	0.72032	D	0.01	.	8.8988	0.35481	0.1536:0.5197:0.3267:0.0	.	109;97	O00421-2;O00421	.;CCRL2_HUMAN	D	97;109;97;97;97	ENSP00000381994:A97D;ENSP00000349967:A109D;ENSP00000383677:A97D;ENSP00000414957:A97D;ENSP00000383678:A97D	ENSP00000349967:A109D	A	+	2	0	CCRL2	46424864	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	1.614000	0.36911	0.556000	0.29098	0.491000	0.48974	GCT		0.433	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			64	332	1	0	2.03366e-24	1	2.32484e-24	64	332				
RAB3D	9545	broad.mit.edu	37	19	11447893	11447893	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11447893G>A	ENST00000222120.3	-	2	443	c.183C>T	c.(181-183)gtC>gtT	p.V61V	RAB3D_ENST00000589655.1_Silent_p.V61V	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	61					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGACGGTCTTGACCTTGAAAT	0.572																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(181-183)gtC>gtT		RAB3D, member RAS oncogene family							237.0	211.0	220.0					19																	11447893		2203	4300	6503	SO:0001819	synonymous_variant	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11447893G>A	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.183C>T	19.37:g.11447893G>A						RAB3D_ENST00000589655.1_Silent_p.V61V	p.V61V	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			2	443	-			61						Silent	SNP	ENST00000222120.3	37	c.183C>T	CCDS12257.1																																																																																				0.572	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		269	1137	0	0	0	1	0	269	1137				
SESN2	83667	broad.mit.edu	37	1	28601432	28601432	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28601432C>A	ENST00000253063.3	+	8	1438	c.1117C>A	c.(1117-1119)Ctc>Atc	p.L373I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	373					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTATAGCCTCACCTACAA	0.557																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1117-1119)Ctc>Atc		sestrin 2							115.0	94.0	101.0					1																	28601432		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28601432C>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1117C>A	1.37:g.28601432C>A	ENSP00000253063:p.Leu373Ile						p.L373I	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	8	1438	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	373					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.1117C>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671385	0.67814	.	.	ENSG00000130766	ENST00000253063	T	0.39787	1.06	5.18	2.27	0.28462	.	0.067603	0.64402	D	0.000018	T	0.50616	0.1626	M	0.82132	2.575	0.58432	D	0.999999	P	0.51240	0.943	P	0.49421	0.61	T	0.54801	-0.8239	10	0.56958	D	0.05	-16.154	9.5751	0.39452	0.0:0.7637:0.0:0.2363	.	373	P58004	SESN2_HUMAN	I	373	ENSP00000253063:L373I	ENSP00000253063:L373I	L	+	1	0	SESN2	28474019	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.982000	0.49337	0.689000	0.31550	0.655000	0.94253	CTC		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			13	305	1	0	0.00010058	1	0.000102273	13	305				
KIFC3	3801	broad.mit.edu	37	16	57798095	57798095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57798095G>A	ENST00000379655.4	-	12	1834	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	526	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTGGCCGTACGCAAAGATGCA	0.637																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1576-1578)gCg>gTg		kinesin family member C3							69.0	59.0	63.0					16																	57798095		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57798095G>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1577C>T	16.37:g.57798095G>A	ENSP00000368976:p.Ala526Val					KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V	p.A526V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			12	1834	-		all_neural(199;0.224)	526			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1577C>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	g	23.9	4.475183	0.84640	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.02	5.02	0.67125	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.75020	0.971;0.951;0.98;0.975;0.985;0.971;0.959	T	0.79773	-0.1662	10	0.87932	D	0	.	17.3476	0.87314	0.0:0.0:1.0:0.0	.	548;468;384;424;231;526;387	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	V	526;526;387;548;424;384;468	ENSP00000368976:A526V;ENSP00000401696:A526V;ENSP00000396399:A387V;ENSP00000442008:A548V;ENSP00000438805:A424V;ENSP00000444012:A384V;ENSP00000444884:A468V	ENSP00000368976:A526V	A	-	2	0	KIFC3	56355596	1.000000	0.71417	0.908000	0.35775	0.289000	0.27227	9.820000	0.99359	2.345000	0.79718	0.552000	0.68991	GCG		0.637	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		42	244	0	0	0	1	0	42	244				
DPF2	5977	broad.mit.edu	37	11	65113742	65113742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113742C>T	ENST00000528416.1	+	9	1062	c.929C>T	c.(928-930)aCc>aTc	p.T310I	DPF2_ENST00000252268.4_Missense_Mutation_p.T324I|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	310					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCCAATTTACCCCCGTGATG	0.557																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(928-930)aCc>aTc		D4, zinc and double PHD fingers family 2							142.0	108.0	120.0					11																	65113742		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113742C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.929C>T	11.37:g.65113742C>T	ENSP00000436901:p.Thr310Ile					DPF2_ENST00000252268.4_Missense_Mutation_p.T324I|DPF2_ENST00000415073.2_Intron	p.T310I	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			9	1062	+			310					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.929C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048325	0.93740	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.90955	-2.75;-2.76	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38778	N	0.001563	D	0.96367	0.8815	M	0.90977	3.165	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.96952	0.9695	10	0.87932	D	0	-22.942	17.1512	0.86778	0.0:1.0:0.0:0.0	.	310	Q92785	REQU_HUMAN	I	310;324	ENSP00000436901:T310I;ENSP00000252268:T324I	ENSP00000252268:T324I	T	+	2	0	DPF2	64870318	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.701000	0.84566	2.667000	0.90743	0.561000	0.74099	ACC		0.557	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		47	210	0	0	0	1	0	47	210				
ZBTB18	10472	broad.mit.edu	37	1	244218555	244218555	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244218555C>T	ENST00000358704.4	+	2	1628	c.1479C>T	c.(1477-1479)caC>caT	p.H493H		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	484					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTACAGACACATTCGCAAGT	0.577																																						ENST00000358704.4																			0											c.(1477-1479)caC>caT		zinc finger and BTB domain containing 18							80.0	79.0	79.0					1																	244218555		2203	4300	6503	SO:0001819	synonymous_variant	10472							g.chr1:244218555C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1479C>T	1.37:g.244218555C>T							p.H493H	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1628	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	ENST00000358704.4	37	c.1479C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	1.440	-0.567841	0.03910	.	.	ENSG00000179456	ENST00000366538	.	.	.	5.78	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71659	-0.4526	6	0.49607	T	0.09	.	12.1166	0.53868	0.0:0.7939:0.0:0.2061	.	.	.	.	Y	482	.	ENSP00000355496:H482Y	H	+	1	0	ZNF238	242285178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.075000	0.57584	1.468000	0.48064	-0.140000	0.14226	CAT		0.577	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		39	508	0	0	0	1	0	39	508				
ADAT1	23536	broad.mit.edu	37	16	75642133	75642133	+	Silent	SNP	G	G	A	rs371519531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75642133G>A	ENST00000307921.3	-	9	1423	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	426	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TTGCCTGAAGGCTTCCAATTG	0.443																																						ENST00000307921.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						c.(1276-1278)agC>agT		adenosine deaminase, tRNA-specific 1							258.0	230.0	240.0					16																	75642133		2198	4300	6498	SO:0001819	synonymous_variant	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75642133G>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1278C>T	16.37:g.75642133G>A						RP11-77K12.8_ENST00000564489.1_RNA	p.S426S	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN			9	1423	-			426			A to I editase.		Q9NVB7|Q9UNG3	Silent	SNP	ENST00000307921.3	37	c.1278C>T	CCDS10922.1																																																																																				0.443	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		229	1015	0	0	0	1	0	229	1015				
RDH16	8608	broad.mit.edu	37	12	57351092	57351092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57351092C>T	ENST00000398138.3	-	1	1011	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	52					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCGCAAGCCTCGTGCATCCAG	0.602																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(154-156)cGa>cAa		retinol dehydrogenase 16 (all-trans)							61.0	66.0	65.0					12																	57351092		2203	4300	6503	SO:0001583	missense	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57351092C>T		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.155G>A	12.37:g.57351092C>T	ENSP00000381206:p.Arg52Gln					RDH16_ENST00000360752.4_5'UTR	p.R52Q	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN			1	1011	-			52					Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	37	c.155G>A	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488577	0.12641	.	.	ENSG00000139547	ENST00000398138	D	0.87887	-2.31	4.72	2.83	0.33086	NAD(P)-binding domain (1);	0.000000	0.53938	D	0.000055	T	0.68550	0.3013	N	0.05177	-0.1	0.09310	N	0.999997	B	0.31435	0.323	B	0.28139	0.086	T	0.59526	-0.7438	10	0.39692	T	0.17	.	5.2471	0.15502	0.1676:0.6543:0.0:0.1781	.	52	O75452	RDH16_HUMAN	Q	52	ENSP00000381206:R52Q	ENSP00000381206:R52Q	R	-	2	0	RDH16	55637359	0.000000	0.05858	0.577000	0.28562	0.042000	0.13812	0.073000	0.14640	0.553000	0.29044	0.655000	0.94253	CGA		0.602	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		99	369	0	0	0	1	0	99	369				
HMHA1	23526	broad.mit.edu	37	19	1080691	1080691	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1080691G>A	ENST00000313093.2	+	16	2154	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K	HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000590577.1_Silent_p.K276K|HMHA1_ENST00000590214.1_Silent_p.K668K|HMHA1_ENST00000543365.1_Silent_p.K524K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	641					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACTTTAAGAAGTTCGAGC	0.637																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(1921-1923)aaG>aaA		histocompatibility (minor) HA-1							42.0	47.0	45.0					19																	1080691		2202	4300	6502	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080691G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1923G>A	19.37:g.1080691G>A						HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000543365.1_Silent_p.K524K|HMHA1_ENST00000590214.1_Silent_p.K668K|HMHA1_ENST00000590577.1_Silent_p.K276K	p.K641K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2154	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	641					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.1923G>A	CCDS32863.1																																																																																				0.637	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			18	250	0	0	0	1	0	18	250				
PLEKHG2	64857	broad.mit.edu	37	19	39907007	39907007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907007G>A	ENST00000409794.3	+	5	1349	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E167K	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	167	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGGACTTGGAGAACAGCAG	0.667																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(499-501)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							78.0	86.0	83.0					19																	39907007		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39907007G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.499G>A	19.37:g.39907007G>A	ENSP00000386733:p.Glu167Lys					PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E167K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K	p.E167K			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	824	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		167			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.499G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.006214|5.006214	0.93287|0.93287	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354|ENST00000205135	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	4.68|4.68	4.68|4.68	0.58851|0.58851	Dbl homology (DH) domain (5);|.	0.000000|.	0.56097|.	D|.	0.000025|.	T|.	0.73999|.	0.3659|.	M|M	0.70842|0.70842	2.15|2.15	0.50039|0.50039	D|D	0.999843|0.999843	D;D;P|.	0.71674|.	0.998;0.98;0.934|.	D;P;P|.	0.74023|.	0.982;0.896;0.79|.	T|.	0.74372|.	-0.3687|.	10|.	0.87932|.	D|.	0|.	.|.	16.5224|16.5224	0.84320|0.84320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;108;167|.	Q9H7P9;E7ESZ3;Q9H7P9-2|.	PKHG2_HUMAN;.;.|.	K|X	167;167;167;108;167;168|63	ENSP00000386733:E167K;ENSP00000392906:E167K;ENSP00000367812:E167K;ENSP00000408857:E108K;ENSP00000386492:E167K;ENSP00000412818:E168K|.	ENSP00000367812:E167K|.	E|W	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44598847|44598847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	7.981000|7.981000	0.88123|0.88123	2.452000|2.452000	0.82932|0.82932	0.491000|0.491000	0.48974|0.48974	GAG|TGG		0.667	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		53	800	0	0	0	1	0	53	800				
MRPS31	10240	broad.mit.edu	37	13	41340970	41340970	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41340970T>C	ENST00000323563.6	-	2	388	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	118						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGGGGCTTTGTTGTTCGTACA	0.378																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(352-354)Aca>Gca		mitochondrial ribosomal protein S31							151.0	141.0	144.0					13																	41340970		2203	4300	6503	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41340970T>C	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.352A>G	13.37:g.41340970T>C	ENSP00000315397:p.Thr118Ala						p.T118A	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	388	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	118					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.352A>G	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.754169	0.31046	.	.	ENSG00000102738	ENST00000323563	T	0.28895	1.59	4.54	-1.16	0.09678	.	0.515963	0.19542	N	0.111773	T	0.24851	0.0603	M	0.65320	2	0.18873	N	0.999985	P	0.44578	0.838	P	0.45099	0.469	T	0.09443	-1.0674	10	0.28530	T	0.3	.	0.5079	0.00590	0.174:0.205:0.1801:0.4409	.	118	Q92665	RT31_HUMAN	A	118	ENSP00000315397:T118A	ENSP00000315397:T118A	T	-	1	0	MRPS31	40238970	0.860000	0.29831	0.985000	0.45067	0.306000	0.27790	0.304000	0.19228	0.189000	0.20188	-0.360000	0.07572	ACA		0.378	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			89	443	0	0	0	1	0	89	443				
FRMD6	122786	broad.mit.edu	37	14	52167809	52167809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52167809C>T	ENST00000344768.5	+	4	422	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F|FRMD6_ENST00000395718.2_Missense_Mutation_p.L76F|FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	76	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTCACAAAAGCTTTACAAATA	0.308																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(226-228)Ctt>Ttt		FERM domain containing 6							40.0	40.0	40.0					14																	52167809		2200	4297	6497	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52167809C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.226C>T	14.37:g.52167809C>T	ENSP00000343899:p.Leu76Phe					FRMD6_ENST00000344768.5_Missense_Mutation_p.L76F|FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F|FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F	p.L76F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			4	511	+	all_epithelial(31;0.0163)|Breast(41;0.089)		76			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.226C>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716038	0.89205	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167	D;D;D;T;D	0.85013	-1.93;-1.93;-1.93;0.06;-1.77	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.057299	0.64402	D	0.000001	D	0.92456	0.7605	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.998	D;D;D	0.74348	0.983;0.978;0.978	D	0.92506	0.6012	10	0.72032	D	0.01	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	7;76;76	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	F	76;76;76;7;7	ENSP00000348550:L76F;ENSP00000379068:L76F;ENSP00000343899:L76F;ENSP00000451453:L7F;ENSP00000451977:L7F	ENSP00000343899:L76F	L	+	1	0	FRMD6	51237559	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.951000	0.56684	2.727000	0.93392	0.650000	0.86243	CTT		0.308	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		15	57	0	0	0	1	0	15	57				
HIST3H2BB	128312	broad.mit.edu	37	1	228646088	228646088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646088G>T	ENST00000369160.2	+	1	281	c.258G>T	c.(256-258)aaG>aaT	p.K86N	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	86					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				ACTACAACAAGCGCTCCACCA	0.647																																						ENST00000369160.2																			0				skin(1)	1						c.(256-258)aaG>aaT		histone cluster 3, H2bb							91.0	83.0	86.0					1																	228646088		2203	4300	6503	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646088G>T	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.258G>T	1.37:g.228646088G>T	ENSP00000375736:p.Lys86Asn						p.K86N	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	281	+		Prostate(94;0.183)	86					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.258G>T	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.510202	0.85282	.	.	ENSG00000196890	ENST00000369160	T	0.75050	-0.9	3.94	3.03	0.35002	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000008	D	0.82788	0.5113	M	0.85542	2.76	0.54753	D	0.999986	P	0.52692	0.955	P	0.56278	0.795	D	0.84800	0.0784	10	0.87932	D	0	.	10.1856	0.42995	0.1001:0.0:0.8999:0.0	.	86	Q8N257	H2B3B_HUMAN	N	86	ENSP00000375736:K86N	ENSP00000375736:K86N	K	+	3	2	HIST3H2BB	226712711	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.186000	0.58337	1.250000	0.43966	-0.225000	0.12378	AAG		0.647	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		115	551	1	0	2.96211e-45	1	3.63119e-45	115	551				
SKA1	220134	broad.mit.edu	37	18	47911724	47911724	+	Splice_Site	SNP	G	G	A	rs370642365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47911724G>A	ENST00000285116.3	+	5	660		c.e5+1		SKA1_ENST00000417656.2_Intron|SKA1_ENST00000398452.2_Splice_Site|SKA1_ENST00000488454.1_Intron	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1						cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GTGTTCCTTCGTAAGTATTTA	0.294																																						ENST00000285116.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.e5+1		spindle and kinetochore associated complex subunit 1		G	,	0,4406		0,0,2203	90.0	94.0	92.0		,	3.9	1.0	18		92	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5	SKA1	NM_001039535.2,NM_145060.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	47911724	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47911724G>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.449+1G>A	18.37:g.47911724G>A						SKA1_ENST00000417656.2_Intron|SKA1_ENST00000398452.2_Splice_Site|SKA1_ENST00000488454.1_Intron		NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN			5	660	+								B2R9Y6|B4E0P4	Splice_Site	SNP	ENST00000285116.3	37		CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997508	0.54147	0.0	1.16E-4	ENSG00000154839	ENST00000285116;ENST00000398452	.	.	.	5.66	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5254	0.44945	0.1527:0.0:0.8473:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKA1	46165722	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.776000	0.68924	0.869000	0.35703	0.655000	0.94253	.		0.294	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060	Intron	45	277	0	0	0	1	0	45	277				
SLCO1A2	6579	broad.mit.edu	37	12	21459897	21459897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21459897C>T	ENST00000307378.6	-	6	1081	c.361G>A	c.(361-363)Gtt>Att	p.V121I	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	121					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTGCCTGAAACTGAAACTGTA	0.363																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(361-363)Gtt>Att		solute carrier organic anion transporter family, member 1A2							111.0	103.0	106.0					12																	21459897		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21459897C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.361G>A	12.37:g.21459897C>T	ENSP00000305974:p.Val121Ile					SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I|SLCO1A2_ENST00000537524.1_5'UTR	p.V121I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			6	1081	-			121					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.361G>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086598	0.20390	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.2	-0.183	0.13284	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.090680	0.00357	N	0.000022	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.005;0.007;0.001	B;B;B	0.12837	0.006;0.004;0.008	T	0.08046	-1.0741	10	0.20046	T	0.44	.	4.7947	0.13267	0.0:0.4951:0.1738:0.3311	.	101;119;121	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	I	121;121;119;121;121	ENSP00000305974:V121I;ENSP00000393973:V121I;ENSP00000375088:V119I;ENSP00000416190:V121I;ENSP00000409314:V121I	ENSP00000305974:V121I	V	-	1	0	SLCO1A2	21351164	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	0.388000	0.20735	0.075000	0.16796	0.557000	0.71058	GTT		0.363	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		40	237	0	0	0	1	0	40	237				
RNF146	81847	broad.mit.edu	37	6	127608756	127608756	+	Missense_Mutation	SNP	G	G	A	rs143742264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608756G>A	ENST00000368314.1	+	3	1422	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	RNF146_ENST00000608991.1_Missense_Mutation_p.R332Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.R333Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	333					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGAACTGATCGATCAGTAGCA	0.463																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(997-999)cGa>cAa		ring finger protein 146							74.0	72.0	73.0					6																	127608756		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608756G>A	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.998G>A	6.37:g.127608756G>A	ENSP00000357297:p.Arg333Gln					RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q|RNF146_ENST00000356799.2_Missense_Mutation_p.R332Q	p.R333Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	1422	+			333					E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.998G>A	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	3.677	-0.066358	0.07273	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.25579	1.79;1.79;1.79	4.61	-0.595	0.11660	.	1.108200	0.07123	N	0.844185	T	0.04770	0.0129	N	0.21448	0.665	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.56958	D	0.05	0.0803	1.6901	0.02850	0.1802:0.3044:0.3591:0.1563	.	333	Q9NTX7	RN146_HUMAN	Q	333;332;332	ENSP00000357297:R333Q;ENSP00000349253:R332Q;ENSP00000309365:R332Q	ENSP00000309365:R332Q	R	+	2	0	RNF146	127650449	0.993000	0.37304	0.007000	0.13788	0.162000	0.22319	1.915000	0.39976	-0.231000	0.09825	0.585000	0.79938	CGA		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		61	293	0	0	0	1	0	61	293				
GUF1	60558	broad.mit.edu	37	4	44691943	44691943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44691943C>T	ENST00000281543.5	+	11	1480	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTTAACAACCCCTACTGTT	0.378																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1285-1287)aCc>aTc		GUF1 GTPase homolog (S. cerevisiae)							103.0	103.0	103.0					4																	44691943		2202	4299	6501	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44691943C>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1286C>T	4.37:g.44691943C>T	ENSP00000281543:p.Thr429Ile					GUF1_ENST00000506793.1_3'UTR	p.T429I	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			11	1480	+			429						Missense_Mutation	SNP	ENST00000281543.5	37	c.1286C>T	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255489	0.59321	.	.	ENSG00000151806	ENST00000281543	T	0.69175	-0.38	5.76	5.76	0.90799	Elongation factor G/III/V (1);	0.159713	0.56097	D	0.000023	T	0.53367	0.1792	N	0.24115	0.695	0.37388	D	0.912331	P	0.36222	0.544	B	0.26517	0.07	T	0.63462	-0.6632	10	0.87932	D	0	-11.5246	19.3309	0.94288	0.0:1.0:0.0:0.0	.	429	Q8N442	GUF1_HUMAN	I	429	ENSP00000281543:T429I	ENSP00000281543:T429I	T	+	2	0	GUF1	44386700	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.649000	0.67936	2.880000	0.98712	0.650000	0.86243	ACC		0.378	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		63	329	0	0	0	1	0	63	329				
RBMS1	5937	broad.mit.edu	37	2	161223761	161223761	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161223761T>C	ENST00000348849.3	-	2	647	c.217A>G	c.(217-219)Acc>Gcc	p.T73A	RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	73	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TGGTCGGTGGTGTGGGGAGGC	0.453																																						ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.(217-219)Acc>Gcc		RNA binding motif, single stranded interacting protein 1							127.0	118.0	121.0					2																	161223761		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161223761T>C	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.217A>G	2.37:g.161223761T>C	ENSP00000294904:p.Thr73Ala					RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A	p.T73A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			2	647	-			73			RRM 1.		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.217A>G	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	33	5.202186	0.94997	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.38692	1.165	0.80722	D	1	D;P;D;D;D;D	0.64830	0.994;0.938;0.99;0.97;0.973;0.987	D;P;D;D;P;D	0.73380	0.968;0.826;0.98;0.928;0.908;0.932	T	0.03403	-1.1040	10	0.72032	D	0.01	.	15.78	0.78252	0.0:0.0:0.0:1.0	.	40;73;73;40;40;73	D3DPB2;P29558;P29558-2;E7EPF2;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	A	73;40;40;73;40;40	ENSP00000294904:T73A;ENSP00000386347:T40A;ENSP00000386571:T40A;ENSP00000376508:T73A;ENSP00000387280:T40A;ENSP00000389016:T40A	ENSP00000294904:T73A	T	-	1	0	RBMS1	160932007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.255000	0.74692	0.533000	0.62120	ACC		0.453	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		127	370	0	0	0	1	0	127	370				
ZIC4	84107	broad.mit.edu	37	3	147108773	147108773	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108773A>G	ENST00000383075.3	-	4	1461	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	317						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCACCTGGGACTTGTGGCCG	0.711																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(949-951)Tcc>Ccc		Zic family member 4							20.0	26.0	24.0					3																	147108773		2092	4229	6321	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108773A>G	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.949T>C	3.37:g.147108773A>G	ENSP00000372553:p.Ser317Pro					ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P	p.S317P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1461	-			317					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.949T>C	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031833	0.07543	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11712	2.82;2.78;2.75;2.82;2.82;2.8	5.18	3.34	0.38264	.	0.305498	0.23266	N	0.050073	T	0.03608	0.0103	N	0.03029	-0.43	0.31564	N	0.657196	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34378	-0.9831	9	0.11182	T	0.66	.	6.6134	0.22763	0.1603:0.0:0.6942:0.1455	.	367;317	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	P	317;355;367;317;317;111	ENSP00000372553:S317P;ENSP00000397695:S355P;ENSP00000435509:S367P;ENSP00000417855:S317P;ENSP00000420775:S317P;ENSP00000418277:S111P	ENSP00000372553:S317P	S	-	1	0	ZIC4	148591463	1.000000	0.71417	0.566000	0.28421	0.106000	0.19336	4.339000	0.59322	0.531000	0.28639	-0.366000	0.07423	TCC		0.711	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			27	232	0	0	0	1	0	27	232				
COL11A2	1302	broad.mit.edu	37	6	33145207	33145207	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33145207C>A	ENST00000374708.4	-	21	1953	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000341947.2_Missense_Mutation_p.Q651H	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	651	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGGGTGCCCTGTTGTCCAG	0.567																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1951-1953)caG>caT		collagen, type XI, alpha 2							39.0	40.0	40.0					6																	33145207		1508	2708	4216	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33145207C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1695G>T	6.37:g.33145207C>A	ENSP00000363840:p.Gln565His					COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q565H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H	p.Q651H	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			23	2180	-			651			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1953G>T	CCDS43452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.571584|3.571584	0.65765|0.65765	.|.	.|.	ENSG00000204248|ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917|ENST00000395196	D;D;D;D;D;D;D;D|.	0.95885|.	-3.41;-3.84;-3.84;-3.84;-3.84;-3.41;-3.84;-3.41|.	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60143|0.60143	0.2246|0.2246	L|L	0.45470|0.45470	1.425|1.425	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|D	0.89917|0.76494	1.0;0.996;0.997|0.999	D;D;D|D	0.91635|0.65573	0.999;0.996;0.981|0.936	T|T	0.65265|0.65265	-0.6210|-0.6210	10|8	0.72032|0.72032	D|D	0.01|0.01	.|.	13.8013|13.8013	0.63202|0.63202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	544;565;651|57	P13942-8;P13942-6;P13942|A2ABA7	.;.;COBA2_HUMAN|.	H|M	565;651;630;625;604;591;570;544|31	ENSP00000363840:Q565H;ENSP00000339915:Q651H;ENSP00000350079:Q630H;ENSP00000363846:Q625H;ENSP00000363845:Q604H;ENSP00000378623:Q591H;ENSP00000363844:Q570H;ENSP00000355123:Q544H|.	ENSP00000339915:Q651H|ENSP00000378622:R31M	Q|R	-|-	3|2	2|0	COL11A2|COL11A2	33253185|33253185	0.651000|0.651000	0.27340|0.27340	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.110000|-0.110000	0.10824|0.10824	2.113000|2.113000	0.64589|0.64589	0.579000|0.579000	0.79373|0.79373	CAG|AGG		0.567	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			44	164	1	0	1.30916e-28	1	1.52443e-28	44	164				
USO1	8615	broad.mit.edu	37	4	76692258	76692258	+	Missense_Mutation	SNP	C	C	G	rs146437956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76692258C>G	ENST00000538159.1	+	7	529	c.529C>G	c.(529-531)Cta>Gta	p.L177V	USO1_ENST00000514213.2_Missense_Mutation_p.L160V			O60763	USO1_HUMAN	USO1 vesicle transport factor	175	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGGACTTACTAGCGGATTC	0.308																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(529-531)Cta>Gta		USO1 vesicle transport factor							117.0	100.0	105.0					4																	76692258		1822	4092	5914	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76692258C>G	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.529C>G	4.37:g.76692258C>G	ENSP00000440586:p.Leu177Val					USO1_ENST00000514213.2_Missense_Mutation_p.L160V	p.L177V			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		7	529	+			175			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.529C>G		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.07	3.295594	0.60086	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.63580	-0.05;-0.05	5.44	-6.59	0.01830	Armadillo-type fold (2);	0.155107	0.42172	D	0.000748	T	0.80369	0.4610	M	0.92169	3.28	0.37146	D	0.901955	D;P	0.76494	0.999;0.755	D;P	0.66716	0.946;0.662	D	0.85201	0.1015	10	0.87932	D	0	.	19.9368	0.97143	0.0:0.7953:0.0:0.2047	.	177;175	F5GYR8;O60763	.;USO1_HUMAN	V	10;177;160;103	ENSP00000440586:L177V;ENSP00000444850:L160V	ENSP00000264904:L103V	L	+	1	2	USO1	76911282	0.006000	0.16342	0.668000	0.29813	0.983000	0.72400	-0.294000	0.08309	-1.434000	0.01975	-0.302000	0.09304	CTA		0.308	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		24	130	0	0	0	1	0	24	130				
NXPE1	120400	broad.mit.edu	37	11	114401632	114401632	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114401632T>C	ENST00000424269.1	-	2	99		c.e2-2		NXPE1_ENST00000251921.2_Splice_Site|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Splice_Site			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1							extracellular region (GO:0005576)											AGACCAAAGCTGAAATGACAA	0.318																																						ENST00000536312.1																			0											c.e6-2		neurexophilin and PC-esterase domain family, member 1																																				SO:0001630	splice_region_variant	120400							g.chr11:114401632T>C	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.100-2A>G	11.37:g.114401632T>C						NXPE1_ENST00000424269.1_Splice_Site|NXPE1_ENST00000251921.2_Splice_Site								6	992	-								B0YJ13	Splice_Site	SNP	ENST00000424269.1	37			.	.	.	.	.	.	.	.	.	.	t	12.83	2.054366	0.36277	.	.	ENSG00000095110	ENST00000424269;ENST00000536312;ENST00000539878;ENST00000534921	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1656	0.37050	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM55A	113906842	0.983000	0.35010	0.310000	0.25168	0.388000	0.30384	3.160000	0.50739	1.930000	0.55929	0.533000	0.62120	.		0.318	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315	Intron	10	319	0	0	0	1	0	10	319				
VPS26B	112936	broad.mit.edu	37	11	134115478	134115478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134115478G>A	ENST00000281187.5	+	6	1483	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	VPS26B_ENST00000525095.2_Silent_p.R335R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	335					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACAACTGCAGGCAGTAGGCCC	0.682																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(1003-1005)agG>agA		vacuolar protein sorting 26 homolog B (S. pombe)							27.0	25.0	26.0					11																	134115478		2201	4296	6497	SO:0001819	synonymous_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134115478G>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.1005G>A	11.37:g.134115478G>A						VPS26B_ENST00000525095.2_Silent_p.R335R	p.R335R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	6	1483	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	335					Q96A55	Silent	SNP	ENST00000281187.5	37	c.1005G>A	CCDS8495.1																																																																																				0.682	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		15	105	0	0	0	1	0	15	105				
FARP1	10160	broad.mit.edu	37	13	99047599	99047599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99047599C>A	ENST00000319562.6	+	13	1548	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	FARP1_ENST00000376586.2_Missense_Mutation_p.P428H|FARP1_ENST00000595437.1_Missense_Mutation_p.P428H	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	428					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CACCCGAGCCCTGCGCCGAGG	0.672																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1282-1284)cCt>cAt		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							16.0	22.0	20.0					13																	99047599		2193	4281	6474	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99047599C>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1283C>A	13.37:g.99047599C>A	ENSP00000322926:p.Pro428His					FARP1_ENST00000595437.1_Missense_Mutation_p.P428H|FARP1_ENST00000319562.6_Missense_Mutation_p.P428H	p.P428H			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1619	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		428					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1283C>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685884	0.68157	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.79247	-1.25;-1.07	4.59	4.59	0.56863	.	0.340804	0.30742	N	0.008966	T	0.79257	0.4415	M	0.62723	1.935	0.58432	D	0.999997	P;P	0.43287	0.8;0.802	B;B	0.44224	0.436;0.444	T	0.82307	-0.0522	10	0.56958	D	0.05	.	17.4097	0.87482	0.0:1.0:0.0:0.0	.	428;428	Q9Y4F1;C9JME2	FARP1_HUMAN;.	H	428;133;428	ENSP00000365771:P428H;ENSP00000322926:P428H	ENSP00000322926:P428H	P	+	2	0	FARP1	97845600	0.971000	0.33674	0.186000	0.23195	0.007000	0.05969	2.259000	0.43259	2.095000	0.63458	0.462000	0.41574	CCT		0.672	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		33	340	1	0	1.74807e-11	1	1.86564e-11	33	340				
PDZD7	79955	broad.mit.edu	37	10	102777979	102777979	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102777979G>T	ENST00000370215.3	-	9	1624	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	467						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGTTCATCAGCGTCTTGGAG	0.652																																						ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1399-1401)Ctg>Atg		PDZ domain containing 7							66.0	65.0	65.0					10																	102777979		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102777979G>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1399C>A	10.37:g.102777979G>T	ENSP00000359234:p.Leu467Met						p.L467M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	9	1624	-			467					D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.1399C>A	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908545	0.72868	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.15372	2.43	4.12	4.12	0.48240	.	0.953905	0.08577	N	0.925156	T	0.34135	0.0887	L	0.40543	1.245	0.28043	N	0.933661	D;D	0.76494	0.996;0.999	P;D	0.67548	0.823;0.952	T	0.24905	-1.0147	10	0.56958	D	0.05	.	14.3404	0.66622	0.0:0.0:1.0:0.0	.	467;467	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	M	467	ENSP00000359234:L467M	ENSP00000359234:L467M	L	-	1	2	PDZD7	102767969	0.999000	0.42202	0.995000	0.50966	0.995000	0.86356	3.358000	0.52284	2.117000	0.64856	0.555000	0.69702	CTG		0.652	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		80	387	1	0	8.6838e-40	1	1.05102e-39	80	387				
TTLL6	284076	broad.mit.edu	37	17	46868909	46868909	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46868909A>G	ENST00000393382.3	-	9	1196	c.1055T>C	c.(1054-1056)aTa>aCa	p.I352T	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATCCCTCCATATCTGCTCCAC	0.547											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1054-1056)aTa>aCa		tubulin tyrosine ligase-like family, member 6							322.0	224.0	257.0					17																	46868909		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46868909A>G	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1055T>C	17.37:g.46868909A>G	ENSP00000377043:p.Ile352Thr		OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	p.I352T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			9	1196	-			304			TTL.			Missense_Mutation	SNP	ENST00000393382.3	37	c.1055T>C	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896390	0.72639	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.77	5.77	0.91146	.	0.271733	0.34110	N	0.004252	T	0.77274	0.4106	M	0.67700	2.07	0.40567	D	0.981267	P;D;D	0.71674	0.749;0.998;0.986	P;D;P	0.72625	0.657;0.978;0.76	T	0.80141	-0.1506	9	0.72032	D	0.01	.	15.3639	0.74503	1.0:0.0:0.0:0.0	.	304;105;45	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	352;45;30;304	.	ENSP00000302547:I45T	I	-	2	0	TTLL6	44223908	1.000000	0.71417	0.849000	0.33467	0.363000	0.29612	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	ATA		0.547	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		79	274	0	0	0	1	0	79	274				
KIF4A	24137	broad.mit.edu	37	X	69596055	69596055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69596055G>A	ENST00000374403.3	+	18	2111	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	KIF4A_ENST00000374388.3_Missense_Mutation_p.E677K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	677	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGTTAAAAGAACGAGTAAG	0.378																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2029-2031)Gaa>Aaa		kinesin family member 4A							49.0	46.0	47.0					X																	69596055		2203	4299	6502	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69596055G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2029G>A	X.37:g.69596055G>A	ENSP00000363524:p.Glu677Lys					KIF4A_ENST00000374388.3_Missense_Mutation_p.E677K	p.E677K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			18	2111	+			677			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2029G>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538489	0.85917	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.11821	2.74;2.74	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000021	T	0.10981	0.0268	N	0.20401	0.57	0.80722	D	1	P;B	0.46706	0.883;0.024	B;B	0.43867	0.434;0.047	T	0.24657	-1.0154	10	0.14252	T	0.57	.	16.1063	0.81225	0.0:0.0:1.0:0.0	.	677;677	O95239;O95239-2	KIF4A_HUMAN;.	K	677	ENSP00000363509:E677K;ENSP00000363524:E677K	ENSP00000363509:E677K	E	+	1	0	KIF4A	69512780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.484000	0.90445	2.347000	0.79759	0.594000	0.82650	GAA		0.378	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		9	137	0	0	0	1	0	9	137				
ZDBF2	57683	broad.mit.edu	37	2	207172649	207172649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172649G>T	ENST00000374423.3	+	5	3783	c.3397G>T	c.(3397-3399)Gta>Tta	p.V1133L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1133							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAACCCAAAGTAGCTATTAA	0.338																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3397-3399)Gta>Tta		zinc finger, DBF-type containing 2							58.0	54.0	55.0					2																	207172649		1857	4086	5943	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172649G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3397G>T	2.37:g.207172649G>T	ENSP00000363545:p.Val1133Leu						p.V1133L	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3783	+			1133					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3397G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706449	0.15239	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	4.25	-0.683	0.11335	.	.	.	.	.	T	0.25269	0.0614	N	0.24115	0.695	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.19257	-1.0311	9	0.16896	T	0.51	.	4.1078	0.10045	0.416:0.1852:0.3989:0.0	.	1133	Q9HCK1	ZDBF2_HUMAN	L	1133	ENSP00000363545:V1133L	ENSP00000363545:V1133L	V	+	1	0	ZDBF2	206880894	0.006000	0.16342	0.000000	0.03702	0.020000	0.10135	0.088000	0.14979	-0.149000	0.11215	0.650000	0.86243	GTA		0.338	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		28	144	1	0	4.7796e-09	1	5.01584e-09	28	144				
SNAP23	8773	broad.mit.edu	37	15	42823668	42823668	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42823668G>T	ENST00000249647.3	+	8	1096	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	SNAP23_ENST00000397138.1_Missense_Mutation_p.D157Y|SNAP23_ENST00000349777.1_Missense_Mutation_p.D157Y|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	210					exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GAAACTCATTGACAGCTAAAG	0.383																																						ENST00000249647.3																			0				large_intestine(1)|lung(1)	2						c.(628-630)Gac>Tac		synaptosomal-associated protein, 23kDa							161.0	145.0	151.0					15																	42823668		2203	4299	6502	SO:0001583	missense	8773				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding	g.chr15:42823668G>T	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.628G>T	15.37:g.42823668G>T	ENSP00000249647:p.Asp210Tyr					SNAP23_ENST00000349777.1_Missense_Mutation_p.D157Y|SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F|SNAP23_ENST00000397138.1_Missense_Mutation_p.D157Y	p.D210Y	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN		GBM - Glioblastoma multiforme(94;2.62e-06)	8	1096	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	210					O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	ENST00000249647.3	37	c.628G>T	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641378	0.67244	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	4.69	0.59074	.	0.362190	0.32190	N	0.006450	T	0.64821	0.2633	L	0.44542	1.39	0.42954	D	0.994389	P;P	0.48640	0.913;0.88	P;P	0.59171	0.733;0.853	T	0.65957	-0.6042	9	0.51188	T	0.08	-8.3922	12.7923	0.57541	0.084:0.0:0.916:0.0	.	157;210	O00161-2;O00161	.;SNP23_HUMAN	Y	210;157;157	.	ENSP00000249647:D210Y	D	+	1	0	SNAP23	40610960	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.110000	0.31147	1.298000	0.44778	0.563000	0.77884	GAC		0.383	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		12	583	1	0	0.00136819	1	0.0013818	12	583				
ZNF43	7594	broad.mit.edu	37	19	21990912	21990912	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21990912T>A	ENST00000354959.4	-	4	2096	c.1927A>T	c.(1927-1929)Att>Ttt	p.I643F	ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F|ZNF43_ENST00000594012.1_Missense_Mutation_p.I637F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCAGTGTGAATTATCTTATGT	0.353																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1909-1911)Att>Ttt		zinc finger protein 43							43.0	46.0	45.0					19																	21990912		2200	4296	6496	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990912T>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1927A>T	19.37:g.21990912T>A	ENSP00000347045:p.Ile643Phe					ZNF43_ENST00000354959.4_Missense_Mutation_p.I643F|ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F	p.I637F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2423	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	643					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1909A>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	t	8.737	0.918085	0.17982	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.18338	2.22	1.21	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30039	0.0752	L	0.54908	1.71	0.29620	N	0.846279	D	0.69078	0.997	D	0.76071	0.987	T	0.11299	-1.0593	9	0.66056	D	0.02	.	4.7412	0.13013	0.277:0.0:0.0:0.723	.	643	P17038	ZNF43_HUMAN	F	642;643	ENSP00000347045:I643F	ENSP00000347045:I643F	I	-	1	0	ZNF43	21782752	0.001000	0.12720	0.050000	0.19076	0.925000	0.55904	0.826000	0.27407	0.808000	0.34231	0.254000	0.18369	ATT		0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		13	276	0	0	0	1	0	13	276				
EML5	161436	broad.mit.edu	37	14	89171223	89171223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89171223G>A	ENST00000380664.5	-	13	2031	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	EML5_ENST00000554922.1_Nonsense_Mutation_p.R678*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	678						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTGTAATCGAATACTATTT	0.343																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2032-2034)Cga>Tga		echinoderm microtubule associated protein like 5							146.0	131.0	135.0					14																	89171223		1813	4074	5887	SO:0001587	stop_gained	161436					cytoplasm|microtubule		g.chr14:89171223G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2032C>T	14.37:g.89171223G>A	ENSP00000370039:p.Arg678*					EML5_ENST00000380664.5_Nonsense_Mutation_p.R678*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*	p.R678*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			13	2280	-			678					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	37	c.2032C>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	42	9.219840	0.99105	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.04	5.04	0.67666	.	0.243309	0.32624	N	0.005856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.7002	13.3525	0.60609	0.0:0.0:0.8037:0.1963	.	.	.	.	X	678	.	ENSP00000298315:R678X	R	-	1	2	EML5	88240976	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.033000	0.57282	2.615000	0.88500	0.557000	0.71058	CGA		0.343	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			36	205	0	0	0	1	0	36	205				
BARX2	8538	broad.mit.edu	37	11	129321161	129321161	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129321161A>G	ENST00000281437.4	+	4	800	c.704A>G	c.(703-705)gAg>gGg	p.E235G	BARX2_ENST00000531946.1_Missense_Mutation_p.E113G|BARX2_ENST00000526127.1_Missense_Mutation_p.E90G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	235					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGCAGCTGGAGCCCTCTCAG	0.577																																						ENST00000281437.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(703-705)gAg>gGg		BARX homeobox 2							69.0	62.0	64.0					11																	129321161		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129321161A>G	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.704A>G	11.37:g.129321161A>G	ENSP00000281437:p.Glu235Gly					BARX2_ENST00000531946.1_Missense_Mutation_p.E113G|BARX2_ENST00000526127.1_Missense_Mutation_p.E90G	p.E235G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	4	800	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	235					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.704A>G	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181217	0.38511	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.90504	-2.68;-2.32;-2.3	5.51	-1.45	0.08828	.	0.968359	0.08586	N	0.923773	T	0.79215	0.4408	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61840	-0.6980	10	0.30078	T	0.28	.	4.3094	0.10964	0.4623:0.3558:0.0668:0.1151	.	235	Q9UMQ3	BARX2_HUMAN	G	235;90;113	ENSP00000281437:E235G;ENSP00000451113:E90G;ENSP00000450418:E113G	ENSP00000281437:E235G	E	+	2	0	BARX2	128826371	0.008000	0.16893	0.000000	0.03702	0.013000	0.08279	1.171000	0.31896	-0.552000	0.06167	0.533000	0.62120	GAG		0.577	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		18	367	0	0	0	1	0	18	367				
DACT1	51339	broad.mit.edu	37	14	59112077	59112077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112077G>A	ENST00000335867.4	+	4	760	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	DACT1_ENST00000541264.2_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000555845.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	246					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTCCCTTGATGTCATTGCAGA	0.468																																						ENST00000335867.4																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(736-738)Gtc>Atc		dishevelled-binding antagonist of beta-catenin 1							161.0	147.0	152.0					14																	59112077		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112077G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.736G>A	14.37:g.59112077G>A	ENSP00000337439:p.Val246Ile					DACT1_ENST00000395151.3_5'UTR|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000395153.3_Intron	p.V246I			Q9NYF0	DACT1_HUMAN			4	760	+			246					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.736G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153085	0.38021	.	.	ENSG00000165617	ENST00000335867	T	0.44482	0.92	5.71	4.8	0.61643	.	0.288933	0.33438	N	0.004919	T	0.40094	0.1103	M	0.65975	2.015	0.80722	D	1	B	0.28350	0.208	B	0.25759	0.063	T	0.32693	-0.9897	10	0.08179	T	0.78	-18.6973	16.529	0.84353	0.0:0.1309:0.8691:0.0	.	246	Q9NYF0	DACT1_HUMAN	I	246	ENSP00000337439:V246I	ENSP00000337439:V246I	V	+	1	0	DACT1	58181830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	1.382000	0.46385	0.563000	0.77884	GTC		0.468	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		75	377	0	0	0	1	0	75	377				
TJP2	9414	broad.mit.edu	37	9	71831325	71831325	+	Missense_Mutation	SNP	C	C	T	rs138241615	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71831325C>T	ENST00000377245.4	+	3	393	c.185C>T	c.(184-186)aCg>aTg	p.T62M	TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M|TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M|TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	62	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AATGGAGAAACGTCAATTGTC	0.512													C|||	5	0.000998403	0.0008	0.0	5008	,	,		14140	0.0		0.004	False		,,,				2504	0.0					ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(184-186)aCg>aTg		tight junction protein 2		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	102.0	91.0	95.0		116,197,278,185,185,185	5.6	0.1	9	dbSNP_134	95	24,8576	17.3+/-56.4	0,24,4276	yes	missense,missense,missense,missense,missense,missense	TJP2	NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3	81,81,81,81,81,81	0,25,6478	TT,TC,CC		0.2791,0.0227,0.1922	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	39/1021,66/1158,93/1222,62/994,62/1191,62/1044	71831325	25,12981	2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71831325C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.185C>T	9.37:g.71831325C>T	ENSP00000366453:p.Thr62Met					TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M	p.T62M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			3	393	+			62			PDZ 1.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.185C>T	CCDS6627.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	C	23.5	4.421998	0.83559	2.27E-4	0.002791	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.095459	0.64402	D	0.000001	T	0.43456	0.1248	N	0.21142	0.635	0.52099	D	0.999947	D;D;P;D;P	0.89917	1.0;0.959;0.744;0.967;0.859	D;P;B;P;B	0.66351	0.943;0.639;0.129;0.754;0.259	T	0.33828	-0.9853	10	0.56958	D	0.05	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	93;66;62;62;62	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	39;39;39;62;62;62;66;93	ENSP00000392178:T39M;ENSP00000366469:T39M;ENSP00000402941:T39M;ENSP00000366453:T62M;ENSP00000345893:T62M;ENSP00000265384:T62M;ENSP00000442090:T66M;ENSP00000438262:T93M	ENSP00000265384:T62M	T	+	2	0	TJP2	71021145	1.000000	0.71417	0.121000	0.21740	0.327000	0.28475	4.637000	0.61346	2.805000	0.96524	0.655000	0.94253	ACG		0.512	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		41	268	0	0	0	1	0	41	268				
CELSR2	1952	broad.mit.edu	37	1	109815515	109815515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109815515C>T	ENST00000271332.3	+	31	8265	c.8204C>T	c.(8203-8205)gCc>gTc	p.A2735V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2735					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCTCCTATGCCTCTACCCAC	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(8203-8205)gCc>gTc		cadherin, EGF LAG seven-pass G-type receptor 2							54.0	59.0	58.0					1																	109815515		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109815515C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8204C>T	1.37:g.109815515C>T	ENSP00000271332:p.Ala2735Val					CELSR2_ENST00000498157.1_3'UTR	p.A2735V	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	31	8265	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2735					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8204C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577470	0.86645	.	.	ENSG00000143126	ENST00000271332	T	0.75154	-0.91	4.7	4.7	0.59300	.	.	.	.	.	T	0.77579	0.4151	M	0.67397	2.05	0.50632	D	0.999886	D	0.67145	0.996	P	0.57679	0.825	T	0.80723	-0.1255	9	0.72032	D	0.01	.	14.261	0.66085	0.0:0.8499:0.1501:0.0	.	2735	Q9HCU4	CELR2_HUMAN	V	2735	ENSP00000271332:A2735V	ENSP00000271332:A2735V	A	+	2	0	CELSR2	109617038	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.664000	0.46783	2.443000	0.82685	0.561000	0.74099	GCC		0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		39	302	0	0	0	1	0	39	302				
USH2A	7399	broad.mit.edu	37	1	216390747	216390747	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216390747G>A	ENST00000307340.3	-	15	3525	c.3139C>T	c.(3139-3141)Cta>Tta	p.L1047L	USH2A_ENST00000366943.2_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1047	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.		L -> V. {ECO:0000269|PubMed:15325563}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACCCAATAGATTGTTGACA	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3139-3141)Cta>Tta		Usher syndrome 2A (autosomal recessive, mild)							106.0	89.0	95.0					1																	216390747		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216390747G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3139C>T	1.37:g.216390747G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L	p.L1047L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	15	3525	-			1047		L -> V.	Laminin EGF-like 10.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.3139C>T	CCDS31025.1																																																																																				0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		72	221	0	0	0	1	0	72	221				
ZNF131	7690	broad.mit.edu	37	5	43161521	43161521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161521A>G	ENST00000399534.1	+	5	586	c.542A>G	c.(541-543)gAt>gGt	p.D181G	ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000509634.1_Missense_Mutation_p.D181G|ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G			P52739	ZN131_HUMAN	zinc finger protein 131	181					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGTGGAAGATGAAGGCATC	0.448																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(541-543)gAt>gGt		zinc finger protein 131							101.0	92.0	95.0					5																	43161521		1946	4136	6082	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43161521A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.542A>G	5.37:g.43161521A>G	ENSP00000382450:p.Asp181Gly					ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G|ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G|ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.D181G	p.D181G			P52739	ZN131_HUMAN			4	998	+			181					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.542A>G		.	.	.	.	.	.	.	.	.	.	A	13.39	2.222358	0.39300	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.42	4.27	0.50696	.	0.154858	0.56097	N	0.000029	T	0.53610	0.1807	N	0.14661	0.345	0.44871	D	0.997882	P;B	0.43094	0.799;0.004	B;B	0.35413	0.202;0.006	T	0.54022	-0.8355	10	0.39692	T	0.17	-16.9118	10.9487	0.47317	0.9268:0.0:0.0732:0.0	.	181;181	P52739;P52739-2	ZN131_HUMAN;.	G	181	ENSP00000422079:D181G;ENSP00000426504:D181G;ENSP00000305804:D181G;ENSP00000382450:D181G;ENSP00000423945:D181G;ENSP00000421246:D181G	ENSP00000305804:D181G	D	+	2	0	ZNF131	43197278	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.655000	0.67981	0.908000	0.36671	0.528000	0.53228	GAT		0.448	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		73	310	0	0	0	1	0	73	310				
ZNF583	147949	broad.mit.edu	37	19	56935091	56935091	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935091A>C	ENST00000333201.9	+	5	1274	c.1064A>C	c.(1063-1065)aAt>aCt	p.N355T	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TATGTGTGTAATGTGTGTGGG	0.408																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1063-1065)aAt>aCt		zinc finger protein 583							124.0	128.0	127.0					19																	56935091		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935091A>C	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1064A>C	19.37:g.56935091A>C	ENSP00000388502:p.Asn355Thr					ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T|ZNF583_ENST00000585612.1_3'UTR	p.N355T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1274	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	355					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1064A>C	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	9.308	1.054718	0.19907	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07444	3.19;3.19	4.33	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.462253	0.18306	N	0.145252	T	0.05090	0.0136	N	0.05177	-0.1	0.09310	N	1	B	0.31026	0.304	B	0.42959	0.403	T	0.44892	-0.9298	9	.	.	.	.	4.4064	0.11411	0.6477:0.1809:0.1715:0.0	.	355	Q96ND8	ZN583_HUMAN	T	355	ENSP00000291598:N355T;ENSP00000388502:N355T	.	N	+	2	0	ZNF583	61626903	0.000000	0.05858	0.002000	0.10522	0.946000	0.59487	-2.053000	0.01400	0.784000	0.33661	0.379000	0.24179	AAT		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		80	319	0	0	0	1	0	80	319				
ALPL	249	broad.mit.edu	37	1	21889699	21889699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21889699G>A	ENST00000374840.3	+	5	644	c.394G>A	c.(394-396)Gca>Aca	p.A132T	ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T|ALPL_ENST00000425315.2_Missense_Mutation_p.A132T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.A132T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	132			A -> V (in HOPS). {ECO:0000269|PubMed:11834095}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGGGGTAAGCGCAGCCACTGA	0.667																																						ENST00000374840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26	GRCh37	CM068249	ALPL	M		c.(394-396)Gca>Aca		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						80.0	72.0	75.0					1																	21889699		2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21889699G>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.394G>A	1.37:g.21889699G>A	ENSP00000363973:p.Ala132Thr					ALPL_ENST00000374832.1_Missense_Mutation_p.A132T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T|ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.A132T	p.A132T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	5	644	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	132		A -> V (in HOPS).			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.394G>A	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240773	0.95240	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.050790	0.85682	D	0.000000	D	0.97405	0.9151	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.977;0.995	D	0.97812	1.0251	10	0.59425	D	0.04	-20.2969	15.8954	0.79329	0.0:0.0:1.0:0.0	.	55;80;132	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	T	55;77;132;132;132	ENSP00000437674:A55T;ENSP00000442672:A77T;ENSP00000363973:A132T;ENSP00000363965:A132T;ENSP00000394765:A132T	ENSP00000363965:A132T	A	+	1	0	ALPL	21762286	1.000000	0.71417	0.956000	0.39512	0.837000	0.47467	9.383000	0.97214	2.320000	0.78422	0.655000	0.94253	GCA		0.667	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		42	361	0	0	0	1	0	42	361				
MYO18A	399687	broad.mit.edu	37	17	27421850	27421850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27421850C>T	ENST00000527372.1	-	30	4708	c.4528G>A	c.(4528-4530)Gca>Aca	p.A1510T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1510					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGAACCCTGCAATGTCCATG	0.552																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4528-4530)Gca>Aca		myosin XVIIIA							106.0	106.0	106.0					17																	27421850		1935	4149	6084	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27421850C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4528G>A	17.37:g.27421850C>T	ENSP00000437073:p.Ala1510Thr					MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T	p.A1510T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		30	4708	-			1510					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4528G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232462	0.39498	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.88	4.89	0.63831	Myosin tail (1);	0.187777	0.64402	D	0.000018	T	0.27933	0.0688	N	0.25647	0.755	0.33240	D	0.557108	B;B;B;B	0.20052	0.041;0.01;0.01;0.016	B;B;B;B	0.19946	0.016;0.011;0.007;0.027	T	0.33650	-0.9860	10	0.19590	T	0.45	.	9.5676	0.39409	0.1432:0.7866:0.0:0.0702	.	1122;1510;1510;1510	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	T	1510;1510;1510;1510;1510;406;406;1122	ENSP00000346291:A1510T;ENSP00000435932:A1510T;ENSP00000434228:A1510T;ENSP00000437073:A1510T	ENSP00000346291:A1510T	A	-	1	0	MYO18A	24445976	0.195000	0.23338	0.869000	0.34112	0.993000	0.82548	0.897000	0.28390	1.452000	0.47756	0.655000	0.94253	GCA		0.552	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		106	381	0	0	0	1	0	106	381				
LAMB1	3912	broad.mit.edu	37	7	107616323	107616323	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107616323C>A	ENST00000222399.6	-	10	1231		c.e10-1		LAMB1_ENST00000393561.1_Splice_Site|LAMB1_ENST00000393560.1_Splice_Site	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CAGTTACATTCTGCGTGACAA	0.483																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.e8-1		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						73.0	59.0	64.0					7																	107616323		2203	4300	6503	SO:0001630	splice_region_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107616323C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1001-1G>T	7.37:g.107616323C>A						LAMB1_ENST00000222399.6_Splice_Site|LAMB1_ENST00000393560.1_Splice_Site				P07942	LAMB1_HUMAN			8	1257	-								Q14D91	Splice_Site	SNP	ENST00000222399.6	37		CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133344	0.77662	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMB1	107403559	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.564000	0.82326	2.764000	0.94973	0.655000	0.94253	.		0.483	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	Intron	41	165	1	0	6.2361e-21	1	7.00342e-21	41	165				
SHANK1	50944	broad.mit.edu	37	19	51165631	51165631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51165631C>T	ENST00000293441.1	-	23	6095	c.6077G>A	c.(6076-6078)gGa>gAa	p.G2026E	SHANK1_ENST00000483981.2_5'UTR|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2026			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTAGAGGGGTCCGGAAGGCAG	0.716																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(6076-6078)gGa>gAa		SH3 and multiple ankyrin repeat domains 1							18.0	18.0	18.0					19																	51165631		2180	4266	6446	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165631C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6077G>A	19.37:g.51165631C>T	ENSP00000293441:p.Gly2026Glu					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E	p.G2026E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6095	-		all_neural(266;0.057)	2026		G -> R (in a colorectal cancer sample; somatic mutation).			A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6077G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	8.484	0.860483	0.17178	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.36520	1.37;1.82;1.36;1.25	3.46	3.46	0.39613	.	0.593958	0.14308	U	0.327895	T	0.33469	0.0864	L	0.40543	1.245	0.27133	N	0.961838	P;P	0.45827	0.652;0.867	B;P	0.47645	0.173;0.553	T	0.12016	-1.0564	10	0.49607	T	0.09	.	6.4576	0.21938	0.204:0.5973:0.1986:0.0	.	2026;1413	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	E	2026;1413;2017;2034	ENSP00000293441:G2026E;ENSP00000375689:G1413E;ENSP00000351984:G2017E;ENSP00000375690:G2034E	ENSP00000293441:G2026E	G	-	2	0	SHANK1	55857443	0.000000	0.05858	0.993000	0.49108	0.979000	0.70002	0.447000	0.21710	1.940000	0.56252	0.455000	0.32223	GGA		0.716	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		19	69	0	0	0	1	0	19	69				
ACAN	176	broad.mit.edu	37	15	89402178	89402178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89402178G>T	ENST00000561243.1	+	11	6362	c.6362G>T	c.(6361-6363)aGa>aTa	p.R2121I	ACAN_ENST00000559004.1_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I|ACAN_ENST00000439576.2_Missense_Mutation_p.R2121I			P16112	PGCA_HUMAN	aggrecan	2006	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCAGCAGAGAAGATTCT	0.562																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6361-6363)aGa>aTa		aggrecan							51.0	53.0	53.0					15																	89402178		1931	4130	6061	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402178G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6362G>T	15.37:g.89402178G>T	ENSP00000453342:p.Arg2121Ile					ACAN_ENST00000559004.1_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I|ACAN_ENST00000561243.1_Missense_Mutation_p.R2121I	p.R2121I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6736	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2121					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6362G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	5.291	0.239075	0.10023	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02140	4.69;4.43	4.31	3.37	0.38596	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	D;D	0.57571	0.964;0.98	P;P	0.46275	0.51;0.51	T	0.54938	-0.8218	9	0.36615	T	0.2	-2.7329	9.1516	0.36967	0.0:0.1486:0.6761:0.1753	.	2121;2121	E7ENV9;E7EX88	.;.	I	2121;2121;2007	ENSP00000387356:R2121I;ENSP00000341615:R2121I	ENSP00000268134:R2007I	R	+	2	0	ACAN	87203182	0.062000	0.20869	0.042000	0.18584	0.015000	0.08874	1.400000	0.34577	0.900000	0.36469	-0.494000	0.04653	AGA		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		51	296	1	0	9.57592e-29	1	1.11608e-28	51	296				
TAT	6898	broad.mit.edu	37	16	71604584	71604584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604584C>T	ENST00000355962.4	-	8	1043	c.910G>A	c.(910-912)Gag>Aag	p.E304K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	304					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	ATTATCACCTCATTGCCAAAA	0.473																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(910-912)Gag>Aag		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						64.0	61.0	62.0					16																	71604584		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71604584C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.910G>A	16.37:g.71604584C>T	ENSP00000348234:p.Glu304Lys					RP11-432I5.1_ENST00000561529.1_RNA	p.E304K	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	8	1043	-		Ovarian(137;0.125)	304					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.910G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367297	0.41902	.	.	ENSG00000198650	ENST00000355962	D	0.91124	-2.79	5.44	5.44	0.79542	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.163302	0.56097	D	0.000033	D	0.86973	0.6062	L	0.31845	0.965	0.54753	D	0.999987	B	0.27264	0.173	B	0.27170	0.077	T	0.83192	-0.0083	10	0.35671	T	0.21	-22.7911	19.2736	0.94021	0.0:1.0:0.0:0.0	.	304	P17735	ATTY_HUMAN	K	304	ENSP00000348234:E304K	ENSP00000348234:E304K	E	-	1	0	TAT	70162085	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.518000	0.60510	2.546000	0.85860	0.563000	0.77884	GAG		0.473	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			9	302	0	0	0	1	0	9	302				
NOA1	84273	broad.mit.edu	37	4	57843518	57843518	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57843518G>T	ENST00000264230.4	-	1	1471	c.234C>A	c.(232-234)atC>atA	p.I78I	POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	78					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CCGGATCCAGGATGTACTCCG	0.627																																						ENST00000264230.4																			0											c.(232-234)atC>atA		nitric oxide associated 1							61.0	58.0	59.0					4																	57843518		2203	4300	6503	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57843518G>T	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.234C>A	4.37:g.57843518G>T							p.I78I	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1471	-			78					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.234C>A	CCDS3510.1																																																																																				0.627	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		66	267	1	0	2.49587e-40	1	3.02561e-40	66	267				
FBXL13	222235	broad.mit.edu	37	7	102524065	102524065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102524065C>T	ENST00000313221.4	-	13	1601	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	392										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGAAAGTACAATCGGAGAT	0.338																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(1174-1176)tGt>tAt		F-box and leucine-rich repeat protein 13							59.0	63.0	62.0					7																	102524065		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102524065C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1175G>A	7.37:g.102524065C>T	ENSP00000321927:p.Cys392Tyr					FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.C392Y	p.C392Y			Q8NEE6	FXL13_HUMAN			13	1601	-			392					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.1175G>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.086948	0.00367	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34	5.12	-3.21	0.05140	.	2.163390	0.01497	N	0.017337	T	0.02156	0.0067	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.46119	-0.9214	10	0.45353	T	0.12	.	0.4513	0.00501	0.2894:0.1769:0.2975:0.2363	.	392;392;392	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	Y	392	ENSP00000377367:C392Y;ENSP00000368610:C392Y;ENSP00000368607:C392Y;ENSP00000388608:C392Y;ENSP00000321927:C392Y;ENSP00000391550:C392Y	ENSP00000321927:C392Y	C	-	2	0	FBXL13	102311301	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.090000	0.15025	-0.238000	0.09724	0.655000	0.94253	TGT		0.338	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		48	234	0	0	0	1	0	48	234				
KRTAP5-8	57830	broad.mit.edu	37	11	71249545	71249545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71249545C>A	ENST00000398534.3	+	1	475	c.444C>A	c.(442-444)tgC>tgA	p.C148*		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(442-444)tgC>tgA		keratin associated protein 5-8							173.0	178.0	177.0					11																	71249545		2200	4294	6494	SO:0001587	stop_gained	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249545C>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>A	11.37:g.71249545C>A	ENSP00000420723:p.Cys148*						p.C148*	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	475	+			148			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Nonsense_Mutation	SNP	ENST00000398534.3	37	c.444C>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	14.55	2.569775	0.45798	.	.	ENSG00000241233	ENST00000398534	.	.	.	1.57	0.625	0.17665	.	.	.	.	.	.	.	.	.	.	.	0.28850	N	0.896107	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.895	0.09135	0.0:0.578:0.0:0.422	.	.	.	.	X	148	.	ENSP00000420723:C148X	C	+	3	2	KRTAP5-8	70927193	1.000000	0.71417	0.839000	0.33178	0.348000	0.29142	0.572000	0.23684	0.231000	0.21079	0.655000	0.94253	TGC		0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		59	1522	1	0	7.41945e-09	1	7.77385e-09	59	1522				
C4orf51	646603	broad.mit.edu	37	4	146601532	146601532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601532G>A	ENST00000438731.1	+	1	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	59										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AACTGGACAAGTCCATGTGCA	0.428																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(175-177)aaG>aaA		chromosome 4 open reading frame 51							103.0	101.0	101.0					4																	146601532		1954	4153	6107	SO:0001819	synonymous_variant	646603							g.chr4:146601532G>A		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.177G>A	4.37:g.146601532G>A							p.K59K	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			1	177	+			59						Silent	SNP	ENST00000438731.1	37	c.177G>A	CCDS47140.1	.	.	.	.	.	.	.	.	.	.	G	5.403	0.259618	0.10239	.	.	ENSG00000237136	ENST00000511965	.	.	.	6.02	-2.97	0.05530	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	.	1.6016	0.02675	0.1441:0.2135:0.2632:0.3791	.	.	.	.	N	19	.	.	S	+	2	0	C4orf51	146820982	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.837000	0.04377	-0.094000	0.12374	0.655000	0.94253	AGT		0.428	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		54	253	0	0	0	1	0	54	253				
FRMD4A	55691	broad.mit.edu	37	10	13699307	13699307	+	Missense_Mutation	SNP	G	G	A	rs201092986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699307G>A	ENST00000357447.2	-	22	2650	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L|FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	761					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CATCTGCGCCGGGTAGTAGTG	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		7375	0.0		0.0	False		,,,				2504	0.0					ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2281-2283)cCg>cTg		FERM domain containing 4A							49.0	41.0	44.0					10																	13699307		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13699307G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2282C>T	10.37:g.13699307G>A	ENSP00000350032:p.Pro761Leu					FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L	p.P761L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	2650	-			761					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2282C>T	CCDS7101.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.54	3.847717	0.71603	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.85773	-2.01;-2.03;-2.03	5.11	5.11	0.69529	.	0.047559	0.85682	D	0.000000	T	0.82213	0.4988	L	0.53249	1.67	0.80722	D	1	P	0.52316	0.952	B	0.39805	0.31	T	0.82301	-0.0525	10	0.31617	T	0.26	-25.4714	18.5337	0.91001	0.0:0.0:1.0:0.0	.	761	Q9P2Q2	FRM4A_HUMAN	L	746;761;761	ENSP00000351438:P746L;ENSP00000350032:P761L;ENSP00000367764:P761L	ENSP00000350032:P761L	P	-	2	0	FRMD4A	13739313	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.687000	0.98667	2.353000	0.79882	0.436000	0.28706	CCG		0.692	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		20	92	0	0	0	1	0	20	92				
ZNF106	64397	broad.mit.edu	37	15	42740566	42740566	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42740566C>A	ENST00000263805.4	-	3	3096	c.2770G>T	c.(2770-2772)Ggt>Tgt	p.G924C	ZNF106_ENST00000565380.1_Missense_Mutation_p.G152C|ZNF106_ENST00000565611.1_Missense_Mutation_p.G109C	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	924					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)										GCCCTTTCACCTGTTCGGAGG	0.473																																						ENST00000263805.4																			0											c.(2770-2772)Ggt>Tgt		zinc finger protein 106							178.0	177.0	178.0					15																	42740566		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42740566C>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.2770G>T	15.37:g.42740566C>A	ENSP00000263805:p.Gly924Cys					ZNF106_ENST00000565380.1_Missense_Mutation_p.G152C|ZNF106_ENST00000565611.1_Missense_Mutation_p.G109C	p.G924C	NM_022473.1	NP_071918.1					3	3096	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2770G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963628	0.34659	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.44083	0.93	5.23	3.27	0.37495	.	0.695263	0.13710	N	0.368184	T	0.32615	0.0835	L	0.34521	1.04	0.28553	N	0.911545	B;D;B	0.57257	0.001;0.979;0.001	B;P;B	0.46362	0.003;0.514;0.003	T	0.26326	-1.0106	10	0.72032	D	0.01	-0.2274	3.9365	0.09309	0.1851:0.4903:0.2431:0.0816	.	152;924;152	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	C	924;152	ENSP00000263805:G924C	ENSP00000263805:G924C	G	-	1	0	ZFP106	40527858	0.001000	0.12720	0.971000	0.41717	0.925000	0.55904	0.321000	0.19558	1.386000	0.46466	0.655000	0.94253	GGT		0.473	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		169	784	1	0	6.77334e-58	1	8.48631e-58	169	784				
PLCL1	5334	broad.mit.edu	37	2	198950910	198950910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950910C>T	ENST00000428675.1	+	2	3067	c.2669C>T	c.(2668-2670)gCg>gTg	p.A890V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	890					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTAAAATAGCGGTTCATCCA	0.423																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2668-2670)gCg>gTg		phospholipase C-like 1	Quinacrine(DB01103)						60.0	54.0	56.0					2																	198950910		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950910C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2669C>T	2.37:g.198950910C>T	ENSP00000402861:p.Ala890Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	p.A890V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	3067	+			890					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2669C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234223	0.79688	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.22539	1.95;2.01	5.41	5.41	0.78517	.	0.089994	0.48767	D	0.000176	T	0.45558	0.1348	M	0.83012	2.62	0.80722	D	1	D;D	0.69078	0.997;0.989	P;P	0.55055	0.767;0.593	T	0.44498	-0.9324	9	.	.	.	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	890;816	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	890;792	ENSP00000402861:A890V;ENSP00000414138:A792V	.	A	+	2	0	PLCL1	198659155	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.641000	0.83368	2.814000	0.96858	0.591000	0.81541	GCG		0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		47	199	0	0	0	1	0	47	199				
FAM69B	138311	broad.mit.edu	37	9	139617731	139617731	+	Silent	SNP	G	G	A	rs112780986	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617731G>A	ENST00000371692.4	+	5	897	c.801G>A	c.(799-801)gcG>gcA	p.A267A	SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Silent_p.A180A|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	267						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGGGGCCTGCGTGGCCTTGGC	0.677													.|||	2	0.000399361	0.0015	0.0	5008	,	,		15050	0.0		0.0	False		,,,				2504	0.0					ENST00000371691.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(538-540)gcG>gcA		family with sequence similarity 69, member B		G		1,4373		0,1,2186	24.0	30.0	28.0		801	-10.6	0.1	9	dbSNP_132	28	0,8572		0,0,4286	no	coding-synonymous	FAM69B	NM_152421.3		0,1,6472	AA,AG,GG		0.0,0.0229,0.0077		267/432	139617731	1,12945	2187	4286	6473	SO:0001819	synonymous_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617731G>A		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.801G>A	9.37:g.139617731G>A						FAM69B_ENST00000371692.4_Silent_p.A267A|SNHG7_ENST00000414282.1_RNA	p.A180A			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1639	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	267					Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	37	c.540G>A	CCDS7004.1																																																																																				0.677	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		27	355	0	0	0	1	0	27	355				
SASH1	23328	broad.mit.edu	37	6	148852683	148852683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852683C>A	ENST00000367467.3	+	13	1925	c.1450C>A	c.(1450-1452)Cct>Act	p.P484T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	484					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGATGGAATGCCTGGCTCCCC	0.537																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1450-1452)Cct>Act		SAM and SH3 domain containing 1							78.0	72.0	74.0					6																	148852683		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148852683C>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1450C>A	6.37:g.148852683C>A	ENSP00000356437:p.Pro484Thr						p.P484T	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	13	1925	+		Ovarian(120;0.0169)	484					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1450C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519488	0.85495	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.44881	0.91	5.43	5.43	0.79202	.	0.051988	0.85682	D	0.000000	T	0.50786	0.1636	L	0.39898	1.24	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.53034	-0.8495	10	0.66056	D	0.02	-16.1536	19.25	0.93921	0.0:1.0:0.0:0.0	.	465;484	Q6P4R9;O94885	.;SASH1_HUMAN	T	484;245	ENSP00000356437:P484T	ENSP00000356437:P484T	P	+	1	0	SASH1	148894376	1.000000	0.71417	0.171000	0.22900	0.073000	0.16967	4.652000	0.61454	2.560000	0.86352	0.655000	0.94253	CCT		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		18	274	1	0	5.3912e-06	1	5.54037e-06	18	274				
RBL2	5934	broad.mit.edu	37	16	53515625	53515625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53515625G>A	ENST00000262133.6	+	21	3264	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Splice_Site	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1043					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTAAGAACAGGCTCCCCTCG	0.333																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3127-3129)Ggc>Agc		retinoblastoma-like 2 (p130)							77.0	68.0	71.0					16																	53515625		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53515625G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3127G>A	16.37:g.53515625G>A	ENSP00000262133:p.Gly1043Ser					RBL2_ENST00000544545.1_Splice_Site|RBL2_ENST00000379935.4_3'UTR	p.G1043S	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			21	3264	+			1043					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.3127G>A	CCDS10748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367181|3.367181	0.61513|0.61513	.|.	.|.	ENSG00000103479|ENSG00000103479	ENST00000544545|ENST00000262133;ENST00000379935	.|T	.|0.53206	.|0.63	5.37|5.37	3.42|3.42	0.39159|0.39159	.|.	.|0.148324	.|0.64402	.|N	.|0.000011	.|T	.|0.30386	.|0.0763	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27498	.|0.017;0.18	.|B;B	.|0.23150	.|0.015;0.044	.|T	.|0.05194	.|-1.0900	.|10	.|0.22109	.|T	.|0.4	.|-5.3975	11.2464|11.2464	0.49000|0.49000	0.1955:0.0:0.8045:0.0|0.1955:0.0:0.8045:0.0	.|.	.|753;1043	.|E9PG04;Q08999	.|.;RBL2_HUMAN	.|S	-1|1043;753	.|ENSP00000262133:G1043S	.|ENSP00000262133:G1043S	.|G	+|+	.|1	.|0	RBL2|RBL2	52073126|52073126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.956000|4.956000	0.63645|0.63645	0.758000|0.758000	0.33059|0.33059	0.650000|0.650000	0.86243|0.86243	.|GGC		0.333	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		35	145	0	0	0	1	0	35	145				
ILVBL	10994	broad.mit.edu	37	19	15233511	15233511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15233511C>T	ENST00000263383.3	-	6	848	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	237						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCAGGAGACCACTCGGCCC	0.597																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(709-711)Gtc>Atc		ilvB (bacterial acetolactate synthase)-like							63.0	59.0	61.0					19																	15233511		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15233511C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.709G>A	19.37:g.15233511C>T	ENSP00000263383:p.Val237Ile					ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I	p.V237I	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			6	848	-			237					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.709G>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	8.052	0.766195	0.15983	.	.	ENSG00000105135	ENST00000263383;ENST00000527093	T	0.30448	1.53	4.36	1.06	0.20224	.	0.423880	0.25552	N	0.029899	T	0.20577	0.0495	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15464	-1.0436	10	0.33940	T	0.23	-13.666	6.6627	0.23022	0.0:0.6123:0.0:0.3877	.	237	A1L0T0	ILVBL_HUMAN	I	237	ENSP00000263383:V237I	ENSP00000263383:V237I	V	-	1	0	ILVBL	15094511	0.122000	0.22280	0.001000	0.08648	0.082000	0.17680	0.614000	0.24314	0.141000	0.18875	-0.291000	0.09656	GTC		0.597	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		49	213	0	0	0	1	0	49	213				
B4GALT5	9334	broad.mit.edu	37	20	48259054	48259054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48259054G>T	ENST00000371711.4	-	5	744	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	186					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTGGAGCATGGGAAGCAGGTG	0.493																																						ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(556-558)cCc>cAc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							107.0	98.0	101.0					20																	48259054		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48259054G>T	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.557C>A	20.37:g.48259054G>T	ENSP00000360776:p.Pro186His						p.P186H	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		5	744	-			186					E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.557C>A	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820244	0.90873	.	.	ENSG00000158470	ENST00000371711	T	0.37058	1.22	5.78	4.84	0.62591	.	0.046700	0.85682	D	0.000000	T	0.66906	0.2837	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75468	-0.3307	10	0.87932	D	0	-23.4875	14.7944	0.69868	0.0688:0.0:0.9312:0.0	.	186	O43286	B4GT5_HUMAN	H	186	ENSP00000360776:P186H	ENSP00000360776:P186H	P	-	2	0	B4GALT5	47692461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	1.453000	0.47775	0.650000	0.86243	CCC		0.493	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		49	306	1	0	4.0306e-16	1	4.4197e-16	49	306				
RALGAPA1	253959	broad.mit.edu	37	14	36154173	36154173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36154173G>T	ENST00000389698.3	-	19	3128	c.2738C>A	c.(2737-2739)tCt>tAt	p.S913Y	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S960Y	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	913					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCGCTGAAAGAATCCGAATG	0.433																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2878-2880)tCt>tAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							47.0	47.0	47.0					14																	36154173		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36154173G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2738C>A	14.37:g.36154173G>T	ENSP00000374348:p.Ser913Tyr					RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y	p.S960Y			Q6GYQ0	RGPA1_HUMAN			20	3269	-			913					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.2879C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589901	0.86851	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.95035	-3.54;-3.54;-3.59;-3.59;-3.59	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	L	0.32530	0.975	0.58432	D	0.999995	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.996	D;D;D;D;P	0.87578	0.997;0.991;0.998;0.996;0.896	D	0.95649	0.8705	10	0.54805	T	0.06	-15.9621	20.3593	0.98849	0.0:0.0:1.0:0.0	.	960;926;960;913;913	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	Y	913;913;913;960;926;960	ENSP00000374348:S913Y;ENSP00000302647:S913Y;ENSP00000258840:S960Y;ENSP00000371803:S926Y;ENSP00000451877:S960Y	ENSP00000258840:S960Y	S	-	2	0	RALGAPA1	35223924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.822000	0.97130	0.557000	0.71058	TCT		0.433	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		21	98	1	0	1.66031e-10	1	1.76115e-10	21	98				
A2ML1	144568	broad.mit.edu	37	12	9020513	9020513	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9020513G>T	ENST00000299698.7	+	30	3973	c.3793G>T	c.(3793-3795)Gtt>Ttt	p.V1265F	A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCAACCTGGTTGTAAAATC	0.453																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3793-3795)Gtt>Ttt		alpha-2-macroglobulin-like 1							129.0	118.0	121.0					12																	9020513		1951	4132	6083	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9020513G>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3793G>T	12.37:g.9020513G>T	ENSP00000299698:p.Val1265Phe					A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	p.V1265F	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			30	3973	+			1109						Missense_Mutation	SNP	ENST00000299698.7	37	c.3793G>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311419	0.23821	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.31769	1.48;1.6;2.14	3.63	1.79	0.24919	.	1.178110	0.06631	N	0.759227	T	0.28366	0.0701	L	0.58810	1.83	0.24162	N	0.995651	P	0.35944	0.529	B	0.32022	0.139	T	0.30416	-0.9979	10	0.66056	D	0.02	.	5.4362	0.16482	0.4473:0.0:0.5527:0.0	.	1265	A8K2U0	A2ML1_HUMAN	F	1265;1265;815;774	ENSP00000299698:V1265F;ENSP00000443174:V815F;ENSP00000438292:V774F	ENSP00000299698:V1265F	V	+	1	0	A2ML1	8911780	0.908000	0.30866	0.144000	0.22314	0.527000	0.34593	1.735000	0.38176	0.517000	0.28361	0.561000	0.74099	GTT		0.453	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		69	327	1	0	1.08321e-29	1	1.26665e-29	69	327				
ZNF730	100129543	broad.mit.edu	37	19	23329254	23329254	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23329254C>T	ENST00000597761.2	+	4	1607	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CCTCACTACACATAAGATAAT	0.383																																						ENST00000597761.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						c.(1408-1410)Cat>Tat		zinc finger protein 730																																				SO:0001583	missense	100129543							g.chr19:23329254C>T	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1408C>T	19.37:g.23329254C>T	ENSP00000472959:p.His470Tyr						p.H470Y	NM_001277403.1	NP_001264332.1					4	1607	+									Missense_Mutation	SNP	ENST00000597761.2	37	c.1408C>T	CCDS59371.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737975	0.49045	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.828	0.828	0.18841	.	.	.	.	.	T	0.71350	0.3329	M	0.89478	3.035	0.33523	D	0.592681	.	.	.	.	.	.	T	0.77640	-0.2512	6	0.87932	D	0	.	8.5611	0.33511	0.0:1.0:0.0:0.0	.	.	.	.	Y	470	.	ENSP00000329365:H470Y	H	+	1	0	ZNF730	23121094	0.995000	0.38212	0.036000	0.18154	0.035000	0.12851	5.232000	0.65332	0.291000	0.22468	0.297000	0.19635	CAT		0.383	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		32	123	0	0	0	1	0	32	123				
PRSS36	146547	broad.mit.edu	37	16	31157151	31157151	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31157151G>T	ENST00000268281.4	-	6	737	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M|PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	227	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGCACACAGCATCCCTGGC	0.617																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(679-681)Ctg>Atg		protease, serine, 36							67.0	68.0	68.0					16																	31157151		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157151G>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.679C>A	16.37:g.31157151G>T	ENSP00000268281:p.Leu227Met					PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M|PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M	p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			6	737	-			227			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.679C>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414918	0.62511	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.90385	-2.66;-2.66	5.45	0.754	0.18410	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90943	0.7153	L	0.48174	1.505	0.40839	D	0.983656	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.87075	0.2162	9	0.36615	T	0.2	.	5.5116	0.16884	0.1691:0.0:0.5682:0.2627	.	227;227;227	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	M	227	ENSP00000268281:L227M;ENSP00000407160:L227M	ENSP00000268281:L227M	L	-	1	2	PRSS36	31064652	0.998000	0.40836	1.000000	0.80357	0.945000	0.59286	0.165000	0.16564	0.658000	0.30925	0.491000	0.48974	CTG		0.617	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		90	428	1	0	2.75442e-36	1	3.29635e-36	90	428				
DST	667	broad.mit.edu	37	6	56483562	56483562	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56483562T>G	ENST00000370765.6	-	23	5377	c.5270A>C	c.(5269-5271)aAg>aCg	p.K1757T	DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6494					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTTCCATCTTCTTCCGAAA	0.393																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5269-5271)aAg>aCg		dystonin							106.0	110.0	109.0					6																	56483562		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56483562T>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5270A>C	6.37:g.56483562T>G	ENSP00000359801:p.Lys1757Thr					DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron	p.K1757T	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5377	-	Lung NSC(77;0.103)		1149					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.5270A>C	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507487	0.64410	.	.	ENSG00000151914	ENST00000370765	T	0.32988	1.43	5.49	5.49	0.81192	.	.	.	.	.	T	0.37705	0.1013	.	.	.	0.18873	N	0.999988	D	0.76494	0.999	D	0.71656	0.974	T	0.12682	-1.0538	7	0.16420	T	0.52	.	15.8929	0.79315	0.0:0.0:0.0:1.0	.	1757	Q03001-3	.	T	1757	ENSP00000359801:K1757T	ENSP00000359801:K1757T	K	-	2	0	DST	56591521	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.954000	0.70298	2.205000	0.71048	0.528000	0.53228	AAG		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		28	686	0	0	0	1	0	28	686				
TTN	7273	broad.mit.edu	37	2	179433683	179433683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433683C>T	ENST00000591111.1	-	276	72477	c.72253G>A	c.(72253-72255)Ggt>Agt	p.G24085S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G25726S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24085	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTACTGCCACCATCATGTTCA	0.413																																						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.(77176-77178)Ggt>Agt		titin							193.0	188.0	190.0					2																	179433683		1995	4168	6163	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433683C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72253G>A	2.37:g.179433683C>T	ENSP00000465570:p.Gly24085Ser					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24085S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.G25726S	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)		326	77400	-			24085					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.77176G>A		.	.	.	.	.	.	.	.	.	.	C	15.73	2.921098	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80099	0.4561	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83892	0.0285	9	0.87932	D	0	.	19.8963	0.96963	0.0:1.0:0.0:0.0	.	16661;16786;16853;24085	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23158;16661;16853;16786;16659	ENSP00000343764:G23158S;ENSP00000434586:G16661S;ENSP00000340554:G16853S;ENSP00000352154:G16786S	ENSP00000340554:G16853S	G	-	1	0	TTN	179141929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		117	691	0	0	0	1	0	117	691				
SLC6A18	348932	broad.mit.edu	37	5	1232923	1232923	+	Missense_Mutation	SNP	C	C	T	rs368718926		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1232923C>T	ENST00000324642.3	+	3	482	c.359C>T	c.(358-360)gCg>gTg	p.A120V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	120					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCATCGTGGCGTGGGTGCTG	0.652																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(358-360)gCg>gTg		solute carrier family 6 (neutral amino acid transporter), member 18		C	VAL/ALA	0,4406		0,0,2203	141.0	111.0	121.0		359	-1.1	0.0	5		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A18	NM_182632.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	120/629	1232923	1,13005	2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232923C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.359C>T	5.37:g.1232923C>T	ENSP00000323549:p.Ala120Val					SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	p.A120V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	482	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		120						Missense_Mutation	SNP	ENST00000324642.3	37	c.359C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583854	0.28268	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.79454	-1.27;-1.27	5.09	-1.09	0.09904	.	1.103530	0.06848	N	0.796804	T	0.76807	0.4039	M	0.82630	2.6	0.09310	N	1	B	0.24258	0.1	B	0.25506	0.061	T	0.65998	-0.6032	10	0.66056	D	0.02	.	5.6151	0.17426	0.0:0.4704:0.1309:0.3987	.	120	Q96N87	S6A18_HUMAN	V	120	ENSP00000323549:A120V;ENSP00000296821:A120V	ENSP00000296821:A120V	A	+	2	0	SLC6A18	1285923	0.004000	0.15560	0.002000	0.10522	0.056000	0.15407	1.822000	0.39052	-0.003000	0.14444	-0.438000	0.05819	GCG		0.652	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		101	420	0	0	0	1	0	101	420				
KIFAP3	22920	broad.mit.edu	37	1	169951979	169951979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169951979G>A	ENST00000361580.2	-	14	1763	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000367765.1_Silent_p.I472I|KIFAP3_ENST00000538366.1_Silent_p.I434I	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	512					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCATTAGAGATCTGGGCTG	0.313																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1414-1416)atC>atT		kinesin-associated protein 3							64.0	62.0	63.0					1																	169951979		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169951979G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1536C>T	1.37:g.169951979G>A						KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000538366.1_Silent_p.I434I|KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000361580.2_Silent_p.I512I	p.I472I	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			14	2917	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		512					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.1416C>T	CCDS1288.1																																																																																				0.313	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		20	222	0	0	0	1	0	20	222				
KNDC1	85442	broad.mit.edu	37	10	135032456	135032456	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135032456C>A	ENST00000304613.3	+	27	4820	c.4799C>A	c.(4798-4800)cCt>cAt	p.P1600H	KNDC1_ENST00000368572.2_Splice_Site_p.P1602H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1600	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGCAGTCCCCTGTGCGTCCC	0.597																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.e27+1		kinase non-catalytic C-lobe domain (KIND) containing 1							58.0	67.0	64.0					10																	135032456		2203	4300	6503	SO:0001630	splice_region_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135032456C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4800+1C>A	10.37:g.135032456C>A						KNDC1_ENST00000368572.2_Splice_Site_p.P1602_splice	p.P1600_splice			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	27	4820	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1600			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Splice_Site	SNP	ENST00000304613.3	37	c.4800_splice	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854650	0.71719	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.28895	1.59;1.59	4.12	4.12	0.48240	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.056032	0.64402	D	0.000001	T	0.50531	0.1621	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51988	-0.8635	10	0.52906	T	0.07	-11.2166	14.2262	0.65860	0.0:1.0:0.0:0.0	.	1600	Q76NI1	VKIND_HUMAN	H	1600;1602	ENSP00000304437:P1600H;ENSP00000357561:P1602H	ENSP00000304437:P1600H	P	+	2	0	KNDC1	134882446	1.000000	0.71417	0.924000	0.36721	0.374000	0.29953	5.643000	0.67895	2.005000	0.58758	0.561000	0.74099	CCT		0.597	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Missense_Mutation	109	471	1	0	2.19198e-39	1	2.65045e-39	109	471				
SPATA21	374955	broad.mit.edu	37	1	16731589	16731589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731589G>A	ENST00000335496.1	-	8	1166	c.684C>T	c.(682-684)agC>agT	p.S228S	SPATA21_ENST00000540400.1_Silent_p.S205S|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	228							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTCAAAGTAGCTGCGGAAGG	0.557																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(682-684)agC>agT		spermatogenesis associated 21							94.0	80.0	85.0					1																	16731589		2203	4300	6503	SO:0001819	synonymous_variant	374955						calcium ion binding	g.chr1:16731589G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.684C>T	1.37:g.16731589G>A						SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.S205S	p.S228S	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	8	1166	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	228					B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	37	c.684C>T	CCDS172.1																																																																																				0.557	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		34	247	0	0	0	1	0	34	247				
BNIP3L	665	broad.mit.edu	37	8	26238419	26238419	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26238419C>T	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA|BNIP3L_ENST00000520409.1_5'Flank|BNIP3L_ENST00000523515.1_5'Flank	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		ATCATAACATCTAAAGACATC	0.338																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:26238419C>T	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26238419C>T	Exception_encountered													0	1529	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.338	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		56	257	0	0	0	1	0	56	257				
RNF17	56163	broad.mit.edu	37	13	25418028	25418028	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25418028A>C	ENST00000255324.5	+	20	2802	c.2750A>C	c.(2749-2751)gAa>gCa	p.E917A	RNF17_ENST00000381921.1_Missense_Mutation_p.E917A|RNF17_ENST00000339524.3_5'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	917					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATAATAAGGAATTGCCTGTG	0.294																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2749-2751)gAa>gCa		ring finger protein 17							53.0	55.0	54.0					13																	25418028		2202	4295	6497	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25418028A>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2750A>C	13.37:g.25418028A>C	ENSP00000255324:p.Glu917Ala					RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E917A	p.E917A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	20	2802	+		Lung SC(185;0.0225)|Breast(139;0.077)	917					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2750A>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352430	0.61293	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.09630	2.96;2.96;2.96	4.72	4.72	0.59763	Maternal tudor protein (1);	0.323633	0.29172	N	0.012927	T	0.15869	0.0382	N	0.17082	0.46	0.80722	D	1	D;P;D	0.89917	1.0;0.93;1.0	D;P;D	0.87578	0.998;0.636;0.995	T	0.17930	-1.0353	10	0.18710	T	0.47	-21.1896	12.0966	0.53758	1.0:0.0:0.0:0.0	.	917;917;917	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	A	917;917;776;241	ENSP00000255324:E917A;ENSP00000371346:E917A;ENSP00000388892:E241A	ENSP00000255324:E917A	E	+	2	0	RNF17	24316028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.209000	0.65208	2.113000	0.64589	0.482000	0.46254	GAA		0.294	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		42	183	0	0	0	1	0	42	183				
MACC1	346389	broad.mit.edu	37	7	20199174	20199174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20199174G>A	ENST00000400331.5	-	5	1118	c.810C>T	c.(808-810)agC>agT	p.S270S	MACC1_ENST00000332878.4_Silent_p.S270S|MACC1_ENST00000589011.1_Silent_p.S270S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	270					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAACAACGGGCTCACAGTGC	0.478																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(808-810)agC>agT		metastasis associated in colon cancer 1							88.0	82.0	84.0					7																	20199174		2203	4300	6503	SO:0001819	synonymous_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199174G>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.810C>T	7.37:g.20199174G>A						MACC1_ENST00000589011.1_Silent_p.S270S|MACC1_ENST00000332878.4_Silent_p.S270S	p.S270S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1118	-			270					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	c.810C>T	CCDS5369.1																																																																																				0.478	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		56	237	0	0	0	1	0	56	237				
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179730620C>A	ENST00000420890.2	-	17	2715	c.2598G>T	c.(2596-2598)aaG>aaT	p.K866N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	866										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGGTTCTTTGCAGAAA	0.478																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2596-2598)aaG>aaT		coiled-coil domain containing 141							176.0	170.0	172.0					2																	179730620		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179730620C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2598G>T	2.37:g.179730620C>A	ENSP00000395995:p.Lys866Asn					CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	p.K866N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2715	-			291			Ig-like.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2598G>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.078922	0.76528	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.50277	0.75;1.34;1.34;1.3	6.07	5.19	0.71726	.	0.095181	0.45361	D	0.000364	T	0.56558	0.1993	L	0.34521	1.04	0.31795	N	0.629176	D	0.76494	0.999	D	0.68192	0.956	T	0.62690	-0.6801	10	0.36615	T	0.2	-13.9934	15.2563	0.73588	0.0:0.933:0.0:0.067	.	291	Q6ZP82	CC141_HUMAN	N	866;310;291;866	ENSP00000395995:K866N;ENSP00000344627:K310N;ENSP00000295723:K291N;ENSP00000390190:K866N	ENSP00000295723:K291N	K	-	3	2	CCDC141	179438865	1.000000	0.71417	0.953000	0.39169	0.600000	0.36913	2.727000	0.47311	1.572000	0.49736	0.650000	0.86243	AAG		0.478	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		175	854	1	0	3.52614e-80	1	4.50875e-80	175	854				
ANKRD24	170961	broad.mit.edu	37	19	4199913	4199913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4199913C>T	ENST00000600132.1	+	4	441	c.165C>T	c.(163-165)gcC>gcT	p.A55A	ANKRD24_ENST00000318934.4_Silent_p.A55A|ANKRD24_ENST00000262970.5_Silent_p.A145A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	55										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCTACAAGCCGTGGAAAACA	0.667																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(163-165)gcC>gcT		ankyrin repeat domain 24							16.0	21.0	20.0					19																	4199913		2067	4179	6246	SO:0001819	synonymous_variant	170961							g.chr19:4199913C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.165C>T	19.37:g.4199913C>T						ANKRD24_ENST00000318934.4_Silent_p.A55A|ANKRD24_ENST00000262970.5_Silent_p.A145A	p.A55A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	4	441	+			55					O75268|O95781	Silent	SNP	ENST00000600132.1	37	c.165C>T	CCDS45925.1																																																																																				0.667	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		7	29	0	0	0	1	0	7	29				
STS	412	broad.mit.edu	37	X	7252125	7252125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:7252125C>A	ENST00000217961.4	+	9	1575	c.1355C>A	c.(1354-1356)gCt>gAt	p.A452D		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	452					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TACTTAAATGCTGTGCGCTGG	0.478									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1354-1356)gCt>gAt		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						138.0	115.0	123.0					X																	7252125		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7252125C>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1355C>A	X.37:g.7252125C>A	ENSP00000217961:p.Ala452Asp						p.A452D	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			9	1575	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	452					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1355C>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508259	0.85282	.	.	ENSG00000101846	ENST00000217961	D	0.97256	-4.31	3.95	3.95	0.45737	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.97758	4.07	0.53688	D	0.999974	D	0.76494	0.999	D	0.75484	0.986	D	0.99164	1.0862	10	0.87932	D	0	.	12.8957	0.58098	0.0:1.0:0.0:0.0	.	452	P08842	STS_HUMAN	D	452	ENSP00000217961:A452D	ENSP00000217961:A452D	A	+	2	0	STS	7262125	1.000000	0.71417	0.777000	0.31699	0.960000	0.62799	6.102000	0.71486	1.586000	0.49944	0.513000	0.50165	GCT		0.478	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		108	325	1	0	1.15365e-47	1	1.42094e-47	108	325				
FAM227B	196951	broad.mit.edu	37	15	49867255	49867255	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49867255C>T	ENST00000299338.6	-	8	901	c.598G>A	c.(598-600)Gct>Act	p.A200T	FAM227B_ENST00000561064.1_Missense_Mutation_p.A200T	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	200																	TGCAAAAGAGCAATGGAGGCT	0.299																																						ENST00000299338.6																			0											c.(598-600)Gct>Act		family with sequence similarity 227, member B							56.0	63.0	60.0					15																	49867255		2196	4294	6490	SO:0001583	missense	196951							g.chr15:49867255C>T		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.598G>A	15.37:g.49867255C>T	ENSP00000299338:p.Ala200Thr					FAM227B_ENST00000561064.1_Missense_Mutation_p.A200T	p.A200T	NM_152647.2	NP_689860.2					8	901	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.598G>A	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788075	0.70337	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.73	3.79	0.43588	.	0.138981	0.34484	N	0.003927	T	0.74230	0.3689	M	0.80982	2.52	0.80722	D	1	P;D	0.56521	0.932;0.976	P;P	0.59171	0.543;0.853	T	0.77840	-0.2438	9	0.87932	D	0	-8.198	10.6668	0.45734	0.0:0.9063:0.0:0.0937	.	200;200	Q96M60-2;Q96M60	.;CO033_HUMAN	T	200	.	ENSP00000299338:A200T	A	-	1	0	C15orf33	47654547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.467000	0.45093	2.473000	0.83533	0.462000	0.41574	GCT		0.299	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		36	193	0	0	0	1	0	36	193				
DENND2D	79961	broad.mit.edu	37	1	111738639	111738639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111738639C>T	ENST00000357640.4	-	6	773	c.544G>A	c.(544-546)Gct>Act	p.A182T	DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	182	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TAGATGACAGCCATGGAGATC	0.567																																						ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(544-546)Gct>Act		DENN/MADD domain containing 2D							87.0	79.0	82.0					1																	111738639		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111738639C>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.544G>A	1.37:g.111738639C>T	ENSP00000350266:p.Ala182Thr					DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T	p.A182T	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	6	773	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	182			DENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.544G>A	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829128	0.96996	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.11930	2.73;2.73	5.29	5.29	0.74685	DENN (3);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.78637	2.42	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01720	-1.1288	10	0.34782	T	0.22	-14.3451	16.4125	0.83723	0.0:1.0:0.0:0.0	.	179;182	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	T	182;179	ENSP00000350266:A182T;ENSP00000358767:A179T	ENSP00000350266:A182T	A	-	1	0	DENND2D	111540162	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.818000	0.86416	2.471000	0.83476	0.555000	0.69702	GCT		0.567	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		53	255	0	0	0	1	0	53	255				
MRPS30	10884	broad.mit.edu	37	5	44812023	44812023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:44812023C>T	ENST00000507110.1	+	3	792	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	252					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TAAGTTTGTGCCATTGGATTA	0.303																																						ENST00000507110.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(754-756)Cca>Tca		mitochondrial ribosomal protein S30							65.0	67.0	66.0					5																	44812023		2203	4298	6501	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44812023C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.754C>T	5.37:g.44812023C>T	ENSP00000424328:p.Pro252Ser						p.P252S	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN			3	792	+	Lung NSC(6;8.08e-07)		252					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.754C>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386818	0.42308	.	.	ENSG00000112996	ENST00000507110	T	0.16196	2.36	5.46	4.54	0.55810	.	0.273592	0.42294	D	0.000728	T	0.35740	0.0942	M	0.62016	1.91	0.48901	D	0.999723	D	0.89917	1.0	D	0.72075	0.976	T	0.01956	-1.1240	10	0.24483	T	0.36	-8.3727	14.0727	0.64870	0.0:0.8497:0.1503:0.0	.	252	Q9NP92	RT30_HUMAN	S	252	ENSP00000424328:P252S	ENSP00000424328:P252S	P	+	1	0	MRPS30	44847780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.298000	0.51818	2.550000	0.86006	0.655000	0.94253	CCA		0.303	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		45	178	0	0	0	1	0	45	178				
B4GALT5	9334	broad.mit.edu	37	20	48252915	48252915	+	Silent	SNP	G	G	A	rs529151995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48252915G>A	ENST00000371711.4	-	9	1288	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	367					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACAAGGCGTCGTATGTGATGT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22899	0.0		0.0	False		,,,				2504	0.001					ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1099-1101)taC>taT		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							273.0	232.0	246.0					20																	48252915		2203	4300	6503	SO:0001819	synonymous_variant	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48252915G>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1101C>T	20.37:g.48252915G>A							p.Y367Y	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		9	1288	-			367					E1P625|Q2M394|Q9UJQ8	Silent	SNP	ENST00000371711.4	37	c.1101C>T	CCDS13420.1																																																																																				0.493	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		71	344	0	0	0	1	0	71	344				
RELN	5649	broad.mit.edu	37	7	103138584	103138584	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138584T>C	ENST00000428762.1	-	54	8942	c.8783A>G	c.(8782-8784)tAt>tGt	p.Y2928C	RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2928					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCCCCAAAATAGAGTGCAGT	0.423																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8782-8784)tAt>tGt		reelin							125.0	117.0	120.0					7																	103138584		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138584T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8783A>G	7.37:g.103138584T>C	ENSP00000392423:p.Tyr2928Cys					CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C|RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C	p.Y2928C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8942	-			2928					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8783A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475388	0.84640	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.50389	-0.8834	10	0.87932	D	0	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	2928;2928	P78509-2;P78509	.;RELN_HUMAN	C	2928;2928;2928;445;2928	ENSP00000392423:Y2928C;ENSP00000345694:Y2928C;ENSP00000388446:Y2928C	ENSP00000345694:Y2928C	Y	-	2	0	RELN	102925820	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.254000	0.74563	0.533000	0.62120	TAT		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		90	388	0	0	0	1	0	90	388				
KCNH4	23415	broad.mit.edu	37	17	40330471	40330471	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40330471T>C	ENST00000264661.3	-	3	667	c.335A>G	c.(334-336)gAc>gGc	p.D112G	KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	112	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCATCATGTCCAGGAGGCA	0.562																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(334-336)gAc>gGc		potassium voltage-gated channel, subfamily H (eag-related), member 4							49.0	41.0	44.0					17																	40330471		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330471T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.335A>G	17.37:g.40330471T>C	ENSP00000264661:p.Asp112Gly					KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	p.D112G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	3	667	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	112			PAC.			Missense_Mutation	SNP	ENST00000264661.3	37	c.335A>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330240	0.81690	.	.	ENSG00000089558	ENST00000264661	D	0.99578	-6.21	4.99	4.99	0.66335	PAS-associated, C-terminal (1);PAS fold-3 (1);PAS (1);	0.000000	0.42682	D	0.000662	D	0.99638	0.9867	M	0.91459	3.21	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97871	1.0286	10	0.72032	D	0.01	.	12.0825	0.53680	0.0:0.0:0.143:0.8569	.	112	Q9UQ05	KCNH4_HUMAN	G	112	ENSP00000264661:D112G	ENSP00000264661:D112G	D	-	2	0	KCNH4	37583997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.520000	0.53465	2.090000	0.63153	0.460000	0.39030	GAC		0.562	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		21	121	0	0	0	1	0	21	121				
SLC6A20	54716	broad.mit.edu	37	3	45800611	45800611	+	Silent	SNP	G	G	A	rs369964980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45800611G>A	ENST00000358525.4	-	11	1753	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Silent_p.L509L|SLC6A20_ENST00000493980.1_5'Flank	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	546					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTTGGTCACGAGCTGGCCCT	0.622																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1636-1638)ctC>ctT		solute carrier family 6 (proline IMINO transporter), member 20		G	,	0,4406		0,0,2203	53.0	52.0	52.0		1638,1527	-5.9	0.7	3		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC6A20	NM_020208.3,NM_022405.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	546/593,509/556	45800611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45800611G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1638C>T	3.37:g.45800611G>A						SLC6A20_ENST00000353278.4_Silent_p.L509L|SLC6A20_ENST00000456124.2_Intron	p.L546L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	11	1753	-			546					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1638C>T	CCDS43077.1																																																																																				0.622	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		50	196	0	0	0	1	0	50	196				
CLIP2	7461	broad.mit.edu	37	7	73790432	73790432	+	Silent	SNP	C	C	T	rs138546692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73790432C>T	ENST00000395060.1	+	9	1701	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	CLIP2_ENST00000223398.6_Silent_p.Y567Y|CLIP2_ENST00000361545.5_Silent_p.Y532Y			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	567						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGATAAATACGAGAAGGCCC	0.657																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(1699-1701)taC>taT		CAP-GLY domain containing linker protein 2		C	,	0,4406		0,0,2203	29.0	32.0	31.0		1701,1596	2.2	1.0	7	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLIP2	NM_003388.4,NM_032421.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	567/1047,532/1012	73790432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73790432C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1701C>T	7.37:g.73790432C>T						CLIP2_ENST00000361545.5_Silent_p.Y532Y|CLIP2_ENST00000395060.1_Silent_p.Y567Y	p.Y567Y	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			10	2028	+			567					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.1701C>T	CCDS5569.1																																																																																				0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		36	173	0	0	0	1	0	36	173				
KIAA1244	57221	broad.mit.edu	37	6	138655861	138655861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138655861A>G	ENST00000251691.4	+	33	6044	c.5878A>G	c.(5878-5880)Acc>Gcc	p.T1960A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAAAGAAACCCCTTCCGA	0.647																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5878-5880)Acc>Gcc		KIAA1244							20.0	20.0	20.0					6																	138655861		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655861A>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5878A>G	6.37:g.138655861A>G	ENSP00000251691:p.Thr1960Ala						p.T1960A	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	6044	+	Breast(32;0.135)		1960						Missense_Mutation	SNP	ENST00000251691.4	37	c.5878A>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286561	0.59867	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.22134	1.97	5.87	5.87	0.94306	.	1.991490	0.01726	N	0.028617	T	0.13841	0.0335	L	0.34521	1.04	0.80722	D	1	P	0.51351	0.944	B	0.43950	0.437	T	0.18085	-1.0348	10	0.25106	T	0.35	-33.4121	16.2646	0.82568	1.0:0.0:0.0:0.0	.	1960	Q5TH69	BIG3_HUMAN	A	1960;125	ENSP00000251691:T1960A	ENSP00000251691:T1960A	T	+	1	0	KIAA1244	138697554	1.000000	0.71417	0.121000	0.21740	0.182000	0.23217	9.092000	0.94157	2.243000	0.73865	0.443000	0.29094	ACC		0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		34	126	0	0	0	1	0	34	126				
EMR3	84658	broad.mit.edu	37	19	14743812	14743812	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14743812A>C	ENST00000253673.5	-	13	1664	c.1564T>G	c.(1564-1566)Ttg>Gtg	p.L522V	EMR3_ENST00000344373.4_Missense_Mutation_p.L470V|EMR3_ENST00000599900.1_Missense_Mutation_p.L307V|EMR3_ENST00000443157.2_Missense_Mutation_p.L396V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	522					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAGATAAACAATACTAAATTC	0.403																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1564-1566)Ttg>Gtg		egf-like module containing, mucin-like, hormone receptor-like 3							97.0	91.0	93.0					19																	14743812		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14743812A>C	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1564T>G	19.37:g.14743812A>C	ENSP00000253673:p.Leu522Val					EMR3_ENST00000599900.1_Missense_Mutation_p.L307V|EMR3_ENST00000443157.2_Missense_Mutation_p.L396V|EMR3_ENST00000344373.4_Missense_Mutation_p.L470V	p.L522V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			13	1664	-			522						Missense_Mutation	SNP	ENST00000253673.5	37	c.1564T>G	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	A	9.250	1.040406	0.19669	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.53857	0.6;0.6;0.6	4.08	1.96	0.26148	GPCR, family 2-like (1);	.	.	.	.	T	0.36524	0.0970	L	0.31845	0.965	0.09310	N	1	B;P;B	0.44946	0.382;0.846;0.372	B;B;B	0.40782	0.133;0.328;0.34	T	0.30679	-0.9970	9	0.66056	D	0.02	.	2.1925	0.03903	0.5755:0.0:0.2003:0.2242	.	396;470;522	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	V	396;522;470	ENSP00000396208:L396V;ENSP00000253673:L522V;ENSP00000340758:L470V	ENSP00000253673:L522V	L	-	1	2	EMR3	14604812	0.119000	0.22226	0.020000	0.16555	0.005000	0.04900	0.344000	0.19962	0.692000	0.31613	0.533000	0.62120	TTG		0.403	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		36	144	0	0	0	1	0	36	144				
SDC3	9672	broad.mit.edu	37	1	31349524	31349524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31349524C>T	ENST00000339394.6	-	3	919	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Missense_Mutation_p.V191I	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	249	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGCTGACCAGCCTGGGT	0.706																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(571-573)Gtc>Atc		syndecan 3							23.0	27.0	26.0					1																	31349524		2201	4298	6499	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349524C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.745G>A	1.37:g.31349524C>T	ENSP00000344468:p.Val249Ile					SDC3_ENST00000339394.6_Missense_Mutation_p.V249I	p.V191I			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	1	2063	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	249			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.571G>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547782	0.65311	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.26957	1.7;1.72	5.23	5.23	0.72850	.	0.104244	0.40818	N	0.001018	T	0.22627	0.0546	L	0.27053	0.805	0.34526	D	0.7087	P;B	0.34587	0.458;0.284	B;B	0.34824	0.19;0.175	T	0.24764	-1.0151	10	0.44086	T	0.13	-21.7528	18.7907	0.91973	0.0:1.0:0.0:0.0	.	249;191	O75056;D3DPN2	SDC3_HUMAN;.	I	191;249	ENSP00000338346:V191I;ENSP00000344468:V249I	ENSP00000338346:V191I	V	-	1	0	SDC3	31122111	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.012000	0.49575	2.434000	0.82447	0.462000	0.41574	GTC		0.706	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		42	128	0	0	0	1	0	42	128				
KRBA1	84626	broad.mit.edu	37	7	149419587	149419587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149419587C>T	ENST00000485033.2	+	5	541	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y|KRBA1_ENST00000255992.10_Missense_Mutation_p.H181Y|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	181										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTCCCACCCATAGCCCCAG	0.637																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(541-543)Cat>Tat		KRAB-A domain containing 1							20.0	24.0	23.0					7																	149419587		1841	4076	5917	SO:0001583	missense	84626							g.chr7:149419587C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.541C>T	7.37:g.149419587C>T	ENSP00000420112:p.His181Tyr					KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y|KRBA1_ENST00000485033.2_Missense_Mutation_p.H181Y|KRBA1_ENST00000479560.1_3'UTR	p.H181Y	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		6	940	+	Melanoma(164;0.165)|Ovarian(565;0.177)		181					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101931	0.01828	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.30182	1.54;1.54;1.54	4.25	-0.873	0.10635	.	1.625990	0.03280	N	0.186087	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	10	0.18276	T	0.48	6.4057	3.6635	0.08247	0.1675:0.2221:0.0:0.6104	.	181	A5PL33	KRBA1_HUMAN	Y	181	ENSP00000255992:H181Y;ENSP00000317165:H181Y;ENSP00000420112:H181Y	ENSP00000255992:H181Y	H	+	1	0	KRBA1	149050520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	-0.335000	0.08451	-1.099000	0.02127	CAT		0.637	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		13	52	0	0	0	1	0	13	52				
ADARB1	104	broad.mit.edu	37	21	46600335	46600335	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46600335C>A	ENST00000360697.3	+	3	1069	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000539173.1_Missense_Mutation_p.L352M|ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	352					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGAAAAGTGCTGGCTGGAGT	0.493																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(1054-1056)Ctg>Atg		adenosine deaminase, RNA-specific, B1							127.0	82.0	97.0					21																	46600335		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46600335C>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1054C>A	21.37:g.46600335C>A	ENSP00000353920:p.Leu352Met					ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M|ADARB1_ENST00000360697.3_Missense_Mutation_p.L352M	p.L352M	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	5	1489	+			352					A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.1054C>A	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028386	0.75390	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.49432	0.79;0.78;0.8;0.79	5.47	5.47	0.80525	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.995;0.999;0.984	T	0.75780	-0.3197	10	0.87932	D	0	-31.6681	17.2115	0.86931	0.0:1.0:0.0:0.0	.	352;352;380;352	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	M	352	ENSP00000441897:L352M;ENSP00000374513:L352M;ENSP00000015877:L352M;ENSP00000353920:L352M	ENSP00000015877:L352M	L	+	1	2	ADARB1	45424763	1.000000	0.71417	0.616000	0.29078	0.696000	0.40369	4.579000	0.60936	2.748000	0.94277	0.655000	0.94253	CTG		0.493	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		7	102	1	0	0.0381472	1	0.0382505	7	102				
NMT1	4836	broad.mit.edu	37	17	43181223	43181223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43181223C>T	ENST00000592782.1	+	11	1442	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NMT1_ENST00000258960.2_Silent_p.D437D			P30419	NMT1_HUMAN	N-myristoyltransferase 1	437					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCATGAGCGACGCCCTTGTCC	0.567																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(1309-1311)gaC>gaT		N-myristoyltransferase 1							226.0	220.0	222.0					17																	43181223		2203	4300	6503	SO:0001819	synonymous_variant	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43181223C>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1311C>T	17.37:g.43181223C>T						NMT1_ENST00000258960.2_Silent_p.D437D	p.D437D			P30419	NMT1_HUMAN			11	1442	+		Prostate(33;0.155)	437					A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	c.1311C>T	CCDS11494.1																																																																																				0.567	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		265	1100	0	0	0	1	0	265	1100				
TJP1	7082	broad.mit.edu	37	15	30003138	30003138	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30003138C>A	ENST00000346128.6	-	24	4743	c.4269G>T	c.(4267-4269)caG>caT	p.Q1423H	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1423					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGGAGTGGCCTGGATGGGTT	0.527																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4267-4269)caG>caT		tight junction protein 1							174.0	188.0	184.0					15																	30003138		2061	4204	6265	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003138C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4269G>T	15.37:g.30003138C>A	ENSP00000281537:p.Gln1423His					TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H	p.Q1423H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4743	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1423					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4269G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395094	0.42512	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.42131	0.98;0.98	5.62	3.53	0.40419	.	0.201017	0.47093	D	0.000248	T	0.52549	0.1741	L	0.54323	1.7	0.21355	N	0.999712	D;D;P;D	0.65815	0.992;0.988;0.956;0.995	P;P;P;D	0.77004	0.838;0.847;0.564;0.989	T	0.38067	-0.9678	10	0.66056	D	0.02	.	5.0942	0.14725	0.2127:0.5753:0.0:0.212	.	1416;1343;1423;1347	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1423;1347;1423;1343;1343	ENSP00000281537:Q1423H;ENSP00000382890:Q1347H	ENSP00000281537:Q1423H	Q	-	3	2	TJP1	27790430	1.000000	0.71417	0.631000	0.29282	0.413000	0.31143	1.573000	0.36472	1.379000	0.46325	-0.136000	0.14681	CAG		0.527	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		162	750	1	0	3.23106e-57	1	4.04638e-57	162	750				
C11orf84	144097	broad.mit.edu	37	11	63586402	63586402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63586402G>A	ENST00000294244.4	+	5	1161	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	288										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGGGCCCAGACAGCAAGGA	0.642																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(862-864)Gac>Aac		chromosome 11 open reading frame 84							55.0	56.0	56.0					11																	63586402		2201	4298	6499	SO:0001583	missense	144097							g.chr11:63586402G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.862G>A	11.37:g.63586402G>A	ENSP00000294244:p.Asp288Asn						p.D288N	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			5	1161	+			288					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.862G>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172089	0.57584	.	.	ENSG00000168005	ENST00000294244;ENST00000540893	T	0.50277	0.75	4.99	2.06	0.26882	.	1.012140	0.07893	N	0.971511	T	0.33411	0.0862	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.87932	D	0	-8.6044	6.4486	0.21890	0.3034:0.0:0.6966:0.0	.	288	Q9BUA3	CK084_HUMAN	N	288;63	ENSP00000294244:D288N	ENSP00000294244:D288N	D	+	1	0	C11orf84	63342978	0.439000	0.25610	0.007000	0.13788	0.923000	0.55619	0.965000	0.29319	0.615000	0.30124	0.561000	0.74099	GAC		0.642	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		92	337	0	0	0	1	0	92	337				
OBSCN	84033	broad.mit.edu	37	1	228559352	228559352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559352C>A	ENST00000422127.1	+	94	20917	c.20873C>A	c.(20872-20874)cCt>cAt	p.P6958H	OBSCN_ENST00000570156.2_Missense_Mutation_p.P7915H|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6958					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTTGGCCCCTGGCCACAGC	0.711																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23743-23745)cCt>cAt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							9.0	14.0	12.0					1																	228559352		1930	3987	5917	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559352C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20873C>A	1.37:g.228559352C>A	ENSP00000409493:p.Pro6958His					OBSCN_ENST00000422127.1_Missense_Mutation_p.P6958H|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H	p.P7915H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23818	+		Prostate(94;0.0405)	6958			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.23744C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577488	0.45902	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.63096	-0.02;0.03	3.97	3.03	0.35002	.	.	.	.	.	T	0.49881	0.1583	L	0.27053	0.805	0.23221	N	0.998097	B	0.17465	0.022	B	0.14023	0.01	T	0.47459	-0.9116	9	0.62326	D	0.03	.	12.4621	0.55736	0.0:0.8299:0.1701:0.0	.	6958	Q5VST9	OBSCN_HUMAN	H	6958;4592	ENSP00000409493:P6958H;ENSP00000355668:P4592H	ENSP00000355668:P4592H	P	+	2	0	OBSCN	226625975	0.019000	0.18553	0.003000	0.11579	0.096000	0.18686	1.722000	0.38042	0.854000	0.35336	0.484000	0.47621	CCT		0.711	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		19	136	1	0	2.32416e-17	1	2.56562e-17	19	136				
PIGL	9487	broad.mit.edu	37	17	16216893	16216893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16216893C>T	ENST00000225609.5	+	4	476	c.459C>T	c.(457-459)ggC>ggT	p.G153G	PIGL_ENST00000395844.4_Silent_p.G153G|PIGL_ENST00000581006.1_Intron|PIGL_ENST00000498772.2_Silent_p.G153G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	153					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGTAAGTGGCCACAGCAATC	0.488																																						ENST00000225609.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(457-459)ggC>ggT		phosphatidylinositol glycan anchor biosynthesis, class L							238.0	204.0	215.0					17																	16216893		2203	4300	6503	SO:0001819	synonymous_variant	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16216893C>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.459C>T	17.37:g.16216893C>T						PIGL_ENST00000498772.2_Silent_p.G153G|PIGL_ENST00000395844.3_Silent_p.G153G|PIGL_ENST00000581006.1_Intron	p.G153G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	4	476	+			153					A8KA67|B4DYN4	Silent	SNP	ENST00000225609.5	37	c.459C>T	CCDS11176.1																																																																																				0.488	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			73	476	0	0	0	1	0	73	476				
YIPF3	25844	broad.mit.edu	37	6	43480031	43480031	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480031G>T	ENST00000372422.2	-	9	1109	c.927C>A	c.(925-927)ggC>ggA	p.G309G	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Silent_p.G315G	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	309					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGATGTTGGGGCCCTCCAGTG	0.612																																						ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(925-927)ggC>ggA		Yip1 domain family, member 3							71.0	79.0	76.0					6																	43480031		2203	4300	6503	SO:0001819	synonymous_variant	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480031G>T	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.927C>A	6.37:g.43480031G>T						YIPF3_ENST00000506469.1_Silent_p.G315G	p.G309G	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		9	1109	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		309					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	37	c.927C>A	CCDS4899.1																																																																																				0.612	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		87	388	1	0	3.48785e-55	1	4.35778e-55	87	388				
SESN2	83667	broad.mit.edu	37	1	28607282	28607282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28607282C>T	ENST00000253063.3	+	10	1733	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	471					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTACGCCCTCCGTGCC	0.617																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1411-1413)gCc>gTc		sestrin 2							114.0	98.0	103.0					1																	28607282		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28607282C>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1412C>T	1.37:g.28607282C>T	ENSP00000253063:p.Ala471Val						p.A471V	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	10	1733	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	471					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.1412C>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787552	0.90367	.	.	ENSG00000130766	ENST00000253063	T	0.25414	1.8	4.74	4.74	0.60224	.	0.472269	0.23563	N	0.046836	T	0.43500	0.1250	M	0.73430	2.235	0.52501	D	0.999954	P	0.52170	0.951	P	0.55011	0.766	T	0.41215	-0.9521	10	0.66056	D	0.02	-11.054	12.5017	0.55960	0.0:0.8311:0.1689:0.0	.	471	P58004	SESN2_HUMAN	V	471	ENSP00000253063:A471V	ENSP00000253063:A471V	A	+	2	0	SESN2	28479869	0.997000	0.39634	1.000000	0.80357	0.926000	0.56050	3.541000	0.53618	2.461000	0.83175	0.555000	0.69702	GCC		0.617	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			33	382	0	0	0	1	0	33	382				
SLC1A1	6505	broad.mit.edu	37	9	4576049	4576049	+	Silent	SNP	C	C	T	rs137855083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576049C>T	ENST00000262352.3	+	9	1160	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	308					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	ATTTCATAGTCGTACGAAAGA	0.443																																						ENST00000262352.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15						c.(922-924)gtC>gtT		solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	C		0,4406		0,0,2203	99.0	94.0	96.0		924	-10.8	0.0	9	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC1A1	NM_004170.5		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		308/525	4576049	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4576049C>T		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.924C>T	9.37:g.4576049C>T							p.V308V	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	9	1160	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	308					O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	37	c.924C>T	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540993	0.13250	0.0	2.33E-4	ENSG00000106688	ENST00000422398	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	5.2653	0.15595	0.1122:0.1072:0.1954:0.5853	.	.	.	.	C	71	.	.	R	+	1	0	SLC1A1	4566049	0.000000	0.05858	0.010000	0.14722	0.866000	0.49608	-5.152000	0.00146	-2.973000	0.00285	-0.768000	0.03414	CGT		0.443	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			60	282	0	0	0	1	0	60	282				
ZNF443	10224	broad.mit.edu	37	19	12541361	12541361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541361C>T	ENST00000301547.5	-	4	1822	c.1625G>A	c.(1624-1626)gGt>gAt	p.G542D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	542					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATCATAATGACCGAAGGCTTT	0.403																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1624-1626)gGt>gAt		zinc finger protein 443							120.0	114.0	116.0					19																	12541361		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541361C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1625G>A	19.37:g.12541361C>T	ENSP00000301547:p.Gly542Asp					CTD-3105H18.16_ENST00000595562.1_Intron	p.G542D	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1822	-			542						Missense_Mutation	SNP	ENST00000301547.5	37	c.1625G>A	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	5.613	0.297925	0.10622	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07444	3.19	1.37	-1.44	0.08856	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.16066	0.365	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.41161	-0.9524	9	0.40728	T	0.16	.	4.9344	0.13934	0.567:0.2447:0.1883:0.0	.	542	Q9Y2A4	ZN443_HUMAN	D	542	ENSP00000301547:G542D	ENSP00000301547:G542D	G	-	2	0	ZNF443	12402361	0.000000	0.05858	0.011000	0.14972	0.069000	0.16628	-7.078000	0.00045	-0.289000	0.09038	0.461000	0.40582	GGT		0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		17	477	0	0	0	1	0	17	477				
CDH18	1016	broad.mit.edu	37	5	19483440	19483440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19483440C>T	ENST00000507958.1	-	14	2842	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T|CDH18_ENST00000502796.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	618					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGAAGAATAGCGATTAAGGCT	0.478																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1852-1854)Gct>Act		cadherin 18, type 2							64.0	63.0	64.0					5																	19483440		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483440C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1852G>A	5.37:g.19483440C>T	ENSP00000425093:p.Ala618Thr					CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T	p.A618T			Q13634	CAD18_HUMAN			14	2842	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		618					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1852G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321308	0.95682	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.64618	-0.11;-0.11;-0.11	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.74389	2.26	0.58432	D	0.999999	D	0.65815	0.995	P	0.52159	0.691	T	0.74315	-0.3705	9	.	.	.	.	18.0513	0.89349	0.0:1.0:0.0:0.0	.	618	Q13634	CAD18_HUMAN	T	618	ENSP00000371710:A618T;ENSP00000425093:A618T;ENSP00000274170:A618T	.	A	-	1	0	CDH18	19519197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.615000	0.88500	0.655000	0.94253	GCT		0.478	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		30	170	0	0	0	1	0	30	170				
HAND2	9464	broad.mit.edu	37	4	174450017	174450017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174450017G>A	ENST00000359562.4	-	1	1363	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000503474.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	142	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTGGCCAGGCGCAGGGTCTTG	0.612																																						ENST00000359562.4																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13						c.(424-426)Cgc>Tgc		heart and neural crest derivatives expressed 2							163.0	151.0	155.0					4																	174450017		2203	4300	6503	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174450017G>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.424C>T	4.37:g.174450017G>A	ENSP00000352565:p.Arg142Cys					HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA	p.R142C	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1363	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	142			Helix-loop-helix motif.		B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.424C>T	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574715	0.65878	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.98280	-4.84	4.72	3.87	0.44632	Helix-loop-helix DNA-binding (5);	0.055039	0.64402	D	0.000001	D	0.99180	0.9716	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99218	1.0878	10	0.87932	D	0	-18.2081	14.3353	0.66584	0.0:0.0:0.8507:0.1493	.	142;142	B6ECG9;P61296	.;HAND2_HUMAN	C	142;111;90	ENSP00000352565:R142C	ENSP00000352565:R142C	R	-	1	0	HAND2	174686592	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.410000	0.73294	1.186000	0.42985	-0.314000	0.08810	CGC		0.612	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			26	598	0	0	0	1	0	26	598				
SYNCRIP	10492	broad.mit.edu	37	6	86324728	86324728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86324728C>A	ENST00000369622.3	-	11	2118	c.1618G>T	c.(1618-1620)Gga>Tga	p.G540*	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E75D|SYNCRIP_ENST00000355238.6_Nonsense_Mutation_p.G540*	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	540	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGGGCACCTCCTCTCGCACCT	0.622																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1618-1620)Gga>Tga		synaptotagmin binding, cytoplasmic RNA interacting protein							137.0	145.0	142.0					6																	86324728		2203	4300	6503	SO:0001587	stop_gained	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324728C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1618G>T	6.37:g.86324728C>A	ENSP00000358635:p.Gly540*					SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.G540*|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E75D	p.G540*	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1824	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	540			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Nonsense_Mutation	SNP	ENST00000369622.3	37	c.1618G>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433634	0.62955	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	.	.	.	5.39	5.39	0.77823	.	0.103747	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.1481	0.93476	0.0:1.0:0.0:0.0	.	.	.	.	X	540	.	ENSP00000347380:G540X	G	-	1	0	SYNCRIP	86381447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.676000	0.84012	2.521000	0.84997	0.563000	0.77884	GGA		0.622	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		217	1007	1	0	2.79113e-73	1	3.55286e-73	217	1007				
NUAK1	9891	broad.mit.edu	37	12	106532208	106532208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106532208C>A	ENST00000261402.2	-	1	1603	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCAGAAAACCTCTCGGTGGC	0.667																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(223-225)aGg>aTg		NUAK family, SNF1-like kinase, 1							51.0	42.0	45.0					12																	106532208		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106532208C>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.224G>T	12.37:g.106532208C>A	ENSP00000261402:p.Arg75Met						p.R75M	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			1	1603	-			75			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.224G>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146817	0.77888	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.67345	-0.26	4.07	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.79493	0.4455	M	0.71871	2.18	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.81258	-0.1014	10	0.46703	T	0.11	.	16.2469	0.82449	0.0:1.0:0.0:0.0	.	75	O60285	NUAK1_HUMAN	M	75	ENSP00000261402:R75M	ENSP00000261402:R75M	R	-	2	0	NUAK1	105056338	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.197000	0.77814	1.832000	0.53329	0.313000	0.20887	AGG		0.667	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		29	154	1	0	2.23313e-29	1	2.60816e-29	29	154				
NAALAD2	10003	broad.mit.edu	37	11	89903276	89903276	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89903276A>G	ENST00000534061.1	+	13	1612	c.1382A>G	c.(1381-1383)tAc>tGc	p.Y461C	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	461	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCTTCTTTACCAATTAGTG	0.313																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1381-1383)tAc>tGc		N-acetylated alpha-linked acidic dipeptidase 2							103.0	113.0	110.0					11																	89903276		2199	4289	6488	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89903276A>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1382A>G	11.37:g.89903276A>G	ENSP00000432481:p.Tyr461Cys					NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C	p.Y461C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			13	1612	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	461			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1382A>G	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308005	0.40895	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.40476	1.03;1.03	5.78	4.64	0.57946	Peptidase M28 (1);	0.584174	0.17427	N	0.174618	T	0.59514	0.2199	M	0.69358	2.11	0.80722	D	1	D	0.63880	0.993	D	0.64877	0.93	T	0.57021	-0.7882	9	.	.	.	0.0033	12.3408	0.55093	0.8733:0.0:0.0:0.1267	.	461	Q9Y3Q0	NALD2_HUMAN	C	461;428	ENSP00000432481:Y461C;ENSP00000320083:Y428C	.	Y	+	2	0	NAALAD2	89542924	1.000000	0.71417	0.320000	0.25306	0.309000	0.27889	6.826000	0.75298	1.011000	0.39340	0.454000	0.30748	TAC		0.313	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		76	364	0	0	0	1	0	76	364				
GLB1L3	112937	broad.mit.edu	37	11	134183877	134183877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134183877G>A	ENST00000431683.2	+	17	1622	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	541					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCCTGGAGGGCTTTACCATC	0.483																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1621-1623)gGc>gAc		galactosidase, beta 1-like 3							83.0	79.0	80.0					11																	134183877		1900	4123	6023	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134183877G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1622G>A	11.37:g.134183877G>A	ENSP00000396615:p.Gly541Asp						p.G541D	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	17	1622	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	541					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1622G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	1.367	-0.587026	0.03827	.	.	ENSG00000166105	ENST00000431683	D	0.95069	-3.6	4.78	-5.28	0.02755	Galactose-binding domain-like (1);	1.474610	0.03748	N	0.256133	D	0.87892	0.6292	L	0.27975	0.815	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.78091	-0.2339	10	0.11485	T	0.65	.	9.6803	0.40065	0.7087:0.1231:0.1682:0.0	.	541	Q8NCI6	GLBL3_HUMAN	D	541	ENSP00000396615:G541D	ENSP00000396615:G541D	G	+	2	0	GLB1L3	133689087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.596000	0.05720	-0.990000	0.03481	-0.471000	0.05019	GGC		0.483	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		16	86	0	0	0	1	0	16	86				
ZSCAN16	80345	broad.mit.edu	37	6	28093345	28093345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28093345C>T	ENST00000340487.4	+	2	273	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACTCTATAGACAACACTTCAG	0.527																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(124-126)Caa>Taa		zinc finger and SCAN domain containing 16							218.0	222.0	221.0					6																	28093345		2203	4300	6503	SO:0001587	stop_gained	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28093345C>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.124C>T	6.37:g.28093345C>T	ENSP00000366527:p.Gln42*					RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	p.Q42*	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			2	273	+			42			SCAN box.		Q9H6K2	Nonsense_Mutation	SNP	ENST00000340487.4	37	c.124C>T	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550547	0.45383	.	.	ENSG00000196812	ENST00000340487	.	.	.	3.66	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	9.7442	0.40437	0.3728:0.6272:0.0:0.0	.	.	.	.	X	42	.	ENSP00000366527:Q42X	Q	+	1	0	ZSCAN16	28201324	0.006000	0.16342	0.212000	0.23672	0.281000	0.26958	1.399000	0.34566	0.828000	0.34709	0.557000	0.71058	CAA		0.527	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		215	1165	0	0	0	1	0	215	1165				
IGSF10	285313	broad.mit.edu	37	3	151165609	151165609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151165609G>A	ENST00000282466.3	-	4	2159	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	720					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCCGATAGTTGTGCCTCT	0.498																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2158-2160)aaC>aaT		immunoglobulin superfamily, member 10							87.0	71.0	76.0					3																	151165609		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165609G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2160C>T	3.37:g.151165609G>A							p.N720N	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2159	-			720					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.2160C>T	CCDS3160.1																																																																																				0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		40	232	0	0	0	1	0	40	232				
SEPP1	6414	broad.mit.edu	37	5	42808439	42808439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42808439C>T	ENST00000514985.1	-	2	273	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	6					brain development (GO:0007420)|growth (GO:0040007)|locomotory behavior (GO:0007626)|post-embryonic development (GO:0009791)|response to oxidative stress (GO:0006979)|selenium compound metabolic process (GO:0001887)|sexual reproduction (GO:0019953)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)			kidney(10)|large_intestine(1)|lung(4)	15						CAGGGCAAGCCCCAGGCTTCT	0.478																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(16-18)gGg>gAg		selenoprotein P, plasma, 1							19.0	20.0	20.0					5																	42808439		1806	4062	5868	SO:0001583	missense	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42808439C>T	BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722			10751	protein-coding gene	gene with protein product		601484				8421687	Standard	NM_001085486		Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.17G>A	5.37:g.42808439C>T	ENSP00000420939:p.Gly6Glu					SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E|SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000509276.1_5'UTR	p.G6E	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			2	273	-			6					Q6PD59|Q6PI43|Q6PI87|Q6PJF9	Missense_Mutation	SNP	ENST00000514985.1	37	c.17G>A	CCDS43311.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803324	0.70682	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	T;T;T;T;T	0.51574	2.15;2.15;2.15;1.59;0.7	5.29	4.43	0.53597	.	0.149429	0.30428	U	0.009652	T	0.51584	0.1683	L	0.57536	1.79	0.29780	N	0.834089	.	.	.	.	.	.	T	0.55964	-0.8057	8	0.59425	D	0.04	.	9.392	0.38378	0.0:0.7799:0.1435:0.0766	.	.	.	.	E	6	ENSP00000420939:G6E;ENSP00000427671:G6E;ENSP00000425915:G6E;ENSP00000421626:G6E;ENSP00000427414:G6E	ENSP00000425915:G6E	G	-	2	0	SEPP1	42844196	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	2.911000	0.48774	1.221000	0.43506	0.650000	0.86243	GGG		0.478	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000367483.1	NM_005410		24	102	0	0	0	1	0	24	102				
LSS	4047	broad.mit.edu	37	21	47639448	47639448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47639448G>T	ENST00000397728.3	-	6	667	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	LSS_ENST00000464357.1_5'UTR|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000356396.4_Missense_Mutation_p.L197M|LSS_ENST00000522411.1_Missense_Mutation_p.L186M|LSS_ENST00000457828.2_Missense_Mutation_p.L117M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	197					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGGACAGCCAGCCAGAACTTC	0.567																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(589-591)Ctg>Atg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							160.0	116.0	131.0					21																	47639448		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47639448G>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.589C>A	21.37:g.47639448G>T	ENSP00000380837:p.Leu197Met					LSS_ENST00000522411.1_Missense_Mutation_p.L186M|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.L197M|LSS_ENST00000457828.2_Missense_Mutation_p.L117M	p.L197M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			6	667	-	Breast(49;0.214)		197					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.589C>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120599	0.56613	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.62	0.586	0.17434	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.64402	D	0.000002	T	0.77565	0.4149	M	0.87547	2.89	0.49483	D	0.999797	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76418	-0.2966	10	0.54805	T	0.06	.	9.4085	0.38477	0.3965:0.0:0.6035:0.0	.	186;197	E9PEI9;P48449	.;ERG7_HUMAN	M	197;117;197;186;198	ENSP00000348762:L197M;ENSP00000409191:L117M;ENSP00000380837:L197M;ENSP00000429133:L186M;ENSP00000391368:L198M	ENSP00000348762:L197M	L	-	1	2	LSS	46463876	1.000000	0.71417	0.984000	0.44739	0.921000	0.55340	1.199000	0.32235	0.173000	0.19788	-0.140000	0.14226	CTG		0.567	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			19	181	1	0	5.03518e-11	1	5.3609e-11	19	181				
TAF1A	9015	broad.mit.edu	37	1	222732018	222732018	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222732018A>G	ENST00000352967.4	-	11	1525	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A|TAF1A_ENST00000350027.4_Missense_Mutation_p.V446A|TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	446					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCTTGGATTTACAATACTGTA	0.308																																						ENST00000350027.4																			0				kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18						c.(1336-1338)gTa>gCa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa							72.0	74.0	73.0					1																	222732018		2201	4280	6481	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222732018A>G	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1337T>C	1.37:g.222732018A>G	ENSP00000327072:p.Val446Ala					TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A|TAF1A_ENST00000352967.4_Missense_Mutation_p.V446A|TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A	p.V446A	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	11	1490	-			446					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.1337T>C	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	A	7.948	0.744260	0.15710	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882	T;T	0.56444	0.46;0.46	5.34	3.01	0.34805	.	0.556195	0.17612	N	0.168045	T	0.40067	0.1102	L	0.41824	1.3	0.54753	D	0.999988	B	0.10296	0.003	B	0.11329	0.006	T	0.13872	-1.0493	10	0.35671	T	0.21	-3.4905	7.0501	0.25069	0.8182:0.0:0.1818:0.0	.	446	Q15573	TAF1A_HUMAN	A	332;446;446;332	ENSP00000339976:V446A;ENSP00000327072:V446A	ENSP00000339976:V446A	V	-	2	0	TAF1A	220798641	0.997000	0.39634	0.602000	0.28890	0.033000	0.12548	1.436000	0.34980	0.426000	0.26116	0.533000	0.62120	GTA		0.308	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		38	184	0	0	0	1	0	38	184				
EPHA6	285220	broad.mit.edu	37	3	96706450	96706450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706450G>A	ENST00000389672.5	+	3	765	c.727G>A	c.(727-729)Gac>Aac	p.D243N	EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N|EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	149						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TACAAAGATCGACACAATTGC	0.413																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(727-729)Gac>Aac		EPH receptor A6							180.0	183.0	182.0					3																	96706450		1878	4137	6015	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706450G>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.727G>A	3.37:g.96706450G>A	ENSP00000374323:p.Asp243Asn					EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N|EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N	p.D243N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			3	765	+			148					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.727G>A	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.988862|4.988862	0.93106|0.93106	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.04917|.	3.53;3.53;3.53|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.85375|0.85375	0.5682|0.5682	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.87367|0.87367	0.2348|0.2348	10|5	0.87932|.	D|.	0|.	.|.	18.9232|18.9232	0.92534|0.92534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243;243|.	B3KS12;E7EU71|.	.;.|.	N|Q	243;243;149|187	ENSP00000420598:D243N;ENSP00000374323:D243N;ENSP00000439758:D149N|.	ENSP00000374323:D243N|.	D|R	+|+	1|2	0|0	EPHA6|EPHA6	98189140|98189140	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.413	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		206	897	0	0	0	1	0	206	897				
ZNF34	80778	broad.mit.edu	37	8	145999156	145999156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145999156C>T	ENST00000343459.4	-	6	1243	c.1178G>A	c.(1177-1179)tGc>tAc	p.C393Y	ZNF34_ENST00000429371.2_Missense_Mutation_p.C372Y			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		ACATTCCTTGCACTCAAATGG	0.428																																						ENST00000429371.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(1114-1116)tGc>tAc		zinc finger protein 34							46.0	51.0	49.0					8																	145999156		2184	4298	6482	SO:0001583	missense	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145999156C>T	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1178G>A	8.37:g.145999156C>T	ENSP00000341528:p.Cys393Tyr					ZNF34_ENST00000343459.4_Missense_Mutation_p.C393Y	p.C372Y	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	6	1268	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	393					D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	37	c.1115G>A	CCDS47945.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610860	0.66558	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	D;D	0.85088	-1.94;-1.94	3.73	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003504	D	0.94305	0.8170	H	0.95328	3.655	0.36271	D	0.855171	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	D	0.97739	1.0207	10	0.87932	D	0	.	15.4547	0.75302	0.0:1.0:0.0:0.0	.	352;393	E7EN25;Q8IZ26	.;ZNF34_HUMAN	Y	352;322;393;372	ENSP00000341528:C393Y;ENSP00000396894:C372Y	ENSP00000341528:C393Y	C	-	2	0	ZNF34	145969960	0.997000	0.39634	0.999000	0.59377	0.940000	0.58332	5.107000	0.64603	2.351000	0.79841	0.561000	0.74099	TGC		0.428	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		40	108	0	0	0	1	0	40	108				
PPIG	9360	broad.mit.edu	37	2	170493870	170493870	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493870T>C	ENST00000260970.3	+	14	2322	c.2102T>C	c.(2101-2103)tTa>tCa	p.L701S	PPIG_ENST00000409714.3_Missense_Mutation_p.L686S|PPIG_ENST00000448752.2_Missense_Mutation_p.L701S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	701					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAATGAATTAAAGTCCTCC	0.353																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2101-2103)tTa>tCa		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						39.0	40.0	40.0					2																	170493870		2202	4297	6499	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493870T>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2102T>C	2.37:g.170493870T>C	ENSP00000260970:p.Leu701Ser					PPIG_ENST00000448752.2_Missense_Mutation_p.L701S|PPIG_ENST00000409714.3_Missense_Mutation_p.L686S	p.L701S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2322	+			701					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2102T>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	T	7.578	0.668229	0.14776	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.15718	2.4;2.4;2.4	5.63	4.49	0.54785	.	0.469985	0.18759	N	0.131954	T	0.09598	0.0236	N	0.04508	-0.205	0.22610	N	0.998939	B;D;B	0.54964	0.0;0.969;0.0	B;P;B	0.50352	0.0;0.638;0.0	T	0.15178	-1.0446	10	0.23302	T	0.38	-0.3466	4.3681	0.11233	0.161:0.1378:0.0:0.7013	.	686;686;701	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	S	701;686;701	ENSP00000260970:L701S;ENSP00000386245:L686S;ENSP00000407083:L701S	ENSP00000260970:L701S	L	+	2	0	PPIG	170202116	0.997000	0.39634	0.999000	0.59377	0.788000	0.44548	1.770000	0.38532	2.152000	0.67230	0.482000	0.46254	TTA		0.353	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			34	181	0	0	0	1	0	34	181				
KIAA0100	9703	broad.mit.edu	37	17	26964865	26964865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26964865G>T	ENST00000528896.2	-	14	1834	c.1760C>A	c.(1759-1761)tCt>tAt	p.S587Y	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	587						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACCAAGGCAGAAAGGGTAAA	0.488																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1759-1761)tCt>tAt		KIAA0100							108.0	92.0	98.0					17																	26964865		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26964865G>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1760C>A	17.37:g.26964865G>T	ENSP00000436773:p.Ser587Tyr					KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y	p.S587Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			14	1834	-	Lung NSC(42;0.00431)		587					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1760C>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063874	0.76187	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27104	1.7;1.69	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.31138	-0.9954	10	0.72032	D	0.01	.	19.9772	0.97314	0.0:0.0:1.0:0.0	.	587	Q14667	K0100_HUMAN	Y	587;587;587;444	ENSP00000436773:S587Y;ENSP00000446443:S444Y	ENSP00000005905:S587Y	S	-	2	0	KIAA0100	23988992	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.423000	0.73361	2.724000	0.93272	0.563000	0.77884	TCT		0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		69	286	1	0	5.05157e-50	1	6.25473e-50	69	286				
GPR151	134391	broad.mit.edu	37	5	145895387	145895387	+	Missense_Mutation	SNP	G	G	A	rs145255868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145895387G>A	ENST00000311104.2	-	1	366	c.290C>T	c.(289-291)aCg>aTg	p.T97M		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTACGCCGTAGCTCGGAT	0.502													G|||	6	0.00119808	0.0045	0.0	5008	,	,		22339	0.0		0.0	False		,,,				2504	0.0				Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(289-291)aCg>aTg		G protein-coupled receptor 151		G	MET/THR	8,4398	15.5+/-35.6	0,8,2195	124.0	122.0	122.0		290	3.1	0.8	5	dbSNP_134	122	0,8600		0,0,4300	yes	missense	GPR151	NM_194251.2	81	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	possibly-damaging	97/420	145895387	8,12998	2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895387G>A	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.290C>T	5.37:g.145895387G>A	ENSP00000308733:p.Thr97Met						p.T97M	NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	366	-			97					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.290C>T	CCDS34266.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.28	1.592329	0.28357	0.001816	0.0	ENSG00000173250	ENST00000311104	T	0.72835	-0.69	5.88	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.173248	0.49305	D	0.000160	T	0.63414	0.2509	L	0.43152	1.355	0.28914	N	0.892557	P	0.48694	0.914	P	0.44732	0.459	T	0.60342	-0.7282	10	0.56958	D	0.05	.	9.0746	0.36513	0.2537:0.0:0.7463:0.0	.	97	Q8TDV0	GP151_HUMAN	M	97	ENSP00000308733:T97M	ENSP00000308733:T97M	T	-	2	0	GPR151	145875580	0.989000	0.36119	0.829000	0.32907	0.275000	0.26752	2.436000	0.44819	0.349000	0.23975	-0.140000	0.14226	ACG		0.502	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		72	282	0	0	0	1	0	72	282				
KIAA0430	9665	broad.mit.edu	37	16	15729733	15729733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15729733C>A	ENST00000396368.3	-	3	817	c.611G>T	c.(610-612)gGt>gTt	p.G204V	KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G204V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	204					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTGCACATTACCATGACATGA	0.522																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(610-612)gGt>gTt		KIAA0430							94.0	96.0	95.0					16																	15729733		2056	4189	6245	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729733C>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.611G>T	16.37:g.15729733C>A	ENSP00000379654:p.Gly204Val					KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G204V	p.G204V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	817	-			203					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.611G>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714553	0.48622	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	3.94	0.45596	.	0.365309	0.27219	N	0.020377	T	0.51024	0.1650	L	0.51422	1.61	0.09310	N	1	B;P;P;P;P	0.50369	0.05;0.934;0.934;0.934;0.891	B;P;P;P;P	0.55923	0.067;0.688;0.787;0.787;0.49	T	0.44283	-0.9338	9	0.72032	D	0.01	.	11.7683	0.51943	0.0:0.8098:0.124:0.0662	.	203;203;204;203;203	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	V	204;204;203;26;204;204;204	.	ENSP00000315718:G203V	G	-	2	0	KIAA0430	15637234	0.973000	0.33851	0.001000	0.08648	0.957000	0.61999	3.123000	0.50453	0.815000	0.34398	0.655000	0.94253	GGT		0.522	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		97	313	1	0	2.68325e-40	1	3.25214e-40	97	313				
TTN	7273	broad.mit.edu	37	2	179598068	179598068	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598068G>T	ENST00000591111.1	-	52	15225	c.15001C>A	c.(15001-15003)Ctc>Atc	p.L5001I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L5318I|TTN_ENST00000342992.6_Missense_Mutation_p.L4074I			Q8WZ42	TITIN_HUMAN	titin	12380	Ig-like 30.				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)			TAAAATTTGAGCTGGGCAACA	0.448																																						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.(15952-15954)Ctc>Atc		titin							89.0	86.0	87.0					2																	179598068		1836	4096	5932	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598068G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15001C>A	2.37:g.179598068G>T	ENSP00000465570:p.Leu5001Ile					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L4074I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L5001I	p.L5318I	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)		54	16176	-			5001					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.15952C>A		.	.	.	.	.	.	.	.	.	.	G	12.22	1.872505	0.33069	.	.	ENSG00000155657	ENST00000342992	T	0.72167	-0.63	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85927	0.5811	M	0.92317	3.295	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	D	0.88744	0.3245	9	0.87932	D	0	.	14.3531	0.66716	0.0704:0.0:0.9296:0.0	.	5001	Q8WZ42	TITIN_HUMAN	I	4074	ENSP00000343764:L4074I	ENSP00000343764:L4074I	L	-	1	0	TTN	179306313	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	2.844000	0.48246	2.765000	0.95021	0.655000	0.94253	CTC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		76	419	1	0	7.07328e-35	1	8.4269e-35	76	419				
KDM2B	84678	broad.mit.edu	37	12	121878882	121878882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121878882G>A	ENST00000377071.4	-	20	3511	c.3439C>T	c.(3439-3441)Cgg>Tgg	p.R1147W	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R1078W	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1147					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGGCAGCCGGTTGATGAGC	0.622																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3232-3234)Cgg>Tgg		lysine (K)-specific demethylase 2B							34.0	39.0	37.0					12																	121878882		2037	4196	6233	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121878882G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3439C>T	12.37:g.121878882G>A	ENSP00000366271:p.Arg1147Trp					KDM2B_ENST00000377071.4_Missense_Mutation_p.R1147W|KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000536437.1_Intron	p.R1078W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			19	3638	-			1147			F-box.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3232C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626902	0.66901	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.38401	1.14;1.14;1.14	6.05	2.99	0.34606	.	0.000000	0.47852	D	0.000205	T	0.62684	0.2448	M	0.90082	3.085	0.80722	D	1	P;B;D;P	0.89917	0.942;0.071;1.0;0.861	P;B;D;B	0.87578	0.522;0.011;0.998;0.227	T	0.66870	-0.5814	10	0.87932	D	0	-27.807	9.1238	0.36803	0.15:0.0:0.6901:0.16	.	587;1147;1078;590	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	1135;515;1078;1147;590;1150	ENSP00000437821:R515W;ENSP00000366269:R1078W;ENSP00000366271:R1147W	ENSP00000261824:R1150W	R	-	1	2	KDM2B	120363265	1.000000	0.71417	0.480000	0.27341	0.828000	0.46876	2.543000	0.45752	0.905000	0.36596	0.643000	0.83706	CGG		0.622	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		28	186	0	0	0	1	0	28	186				
CD93	22918	broad.mit.edu	37	20	23066551	23066551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066551G>A	ENST00000246006.4	-	1	426	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	93	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCAATCCAGAACTTGCTCA	0.647																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(277-279)ttC>ttT		CD93 molecule							39.0	30.0	33.0					20																	23066551		2203	4298	6501	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066551G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.279C>T	20.37:g.23066551G>A							p.F93F	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	426	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		93			C-type lectin.		O00274	Silent	SNP	ENST00000246006.4	37	c.279C>T	CCDS13149.1																																																																																				0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		14	60	0	0	0	1	0	14	60				
ANKRD11	29123	broad.mit.edu	37	16	89346638	89346638	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346638G>A	ENST00000301030.4	-	9	6772	c.6312C>T	c.(6310-6312)gaC>gaT	p.D2104D	ANKRD11_ENST00000378330.2_Silent_p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2104	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D2104D(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGCGGCTGCCGTCCAGGAAGC	0.726																																						ENST00000301030.4																			1	Substitution - coding silent(1)	p.D2104D(1)	endometrium(1)	breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(6310-6312)gaC>gaT		ankyrin repeat domain 11																																				SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89346638G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6312C>T	16.37:g.89346638G>A						ANKRD11_ENST00000378330.2_Silent_p.D2104D	p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6772	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2104			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.6312C>T	CCDS32513.1																																																																																				0.726	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		59	147	0	0	0	1	0	59	147				
DCAF15	90379	broad.mit.edu	37	19	14071137	14071137	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14071137A>G	ENST00000254337.6	+	11	1586	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	522					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGGCATGGGACCTCAACACA	0.617											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1564-1566)gAc>gGc		DDB1 and CUL4 associated factor 15							143.0	125.0	131.0					19																	14071137		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14071137A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1565A>G	19.37:g.14071137A>G	ENSP00000254337:p.Asp522Gly		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.D522G	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			11	1586	+			522					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1565A>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.428411	0.83667	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.16	4.16	0.48862	.	0.066152	0.56097	D	0.000025	T	0.63674	0.2531	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.67573	-0.5636	9	0.87932	D	0	-26.636	12.4814	0.55844	1.0:0.0:0.0:0.0	.	522	Q66K64	DCA15_HUMAN	G	522	.	ENSP00000254337:D522G	D	+	2	0	DCAF15	13932137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	1.666000	0.50821	0.459000	0.35465	GAC		0.617	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		84	401	0	0	0	1	0	84	401				
GLUD2	2747	broad.mit.edu	37	X	120182956	120182956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182956G>A	ENST00000328078.1	+	1	1495	c.1418G>A	c.(1417-1419)aGt>aAt	p.S473N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	473					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GTTCAAGAGAGTTTAGAAAGA	0.418																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1417-1419)aGt>aAt		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						155.0	137.0	143.0					X																	120182956		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182956G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1418G>A	X.37:g.120182956G>A	ENSP00000327589:p.Ser473Asn						p.S473N	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1495	+			473					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1418G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207067	0.58343	.	.	ENSG00000182890	ENST00000328078	D	0.96651	-4.08	2.05	2.05	0.26809	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.83118	2.625	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.96868	0.9637	10	0.62326	D	0.03	.	9.4506	0.38723	0.0:0.0:1.0:0.0	.	473	P49448	DHE4_HUMAN	N	473	ENSP00000327589:S473N	ENSP00000327589:S473N	S	+	2	0	GLUD2	120010637	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.189000	0.72051	1.080000	0.41073	0.406000	0.27484	AGT		0.418	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		137	454	0	0	0	1	0	137	454				
KIF26B	55083	broad.mit.edu	37	1	245530471	245530471	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530471A>C	ENST00000407071.2	+	3	1241	c.801A>C	c.(799-801)aaA>aaC	p.K267N	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	267					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACGGCAGCAAACCCAGCAGCC	0.642																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(799-801)aaA>aaC		kinesin family member 26B							25.0	34.0	31.0					1																	245530471		1996	4166	6162	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530471A>C	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.801A>C	1.37:g.245530471A>C	ENSP00000385545:p.Lys267Asn					KIF26B_ENST00000479506.1_3'UTR	p.K267N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1241	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		267					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.801A>C	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038421	0.55003	.	.	ENSG00000162849	ENST00000407071	T	0.80214	-1.35	5.75	0.452	0.16634	.	0.751547	0.12006	N	0.508288	D	0.82467	0.5043	M	0.62723	1.935	0.80722	D	1	P;D	0.60575	0.932;0.988	B;P	0.52957	0.445;0.714	T	0.80710	-0.1261	10	0.87932	D	0	.	10.5632	0.45156	0.7217:0.0:0.2783:0.0	.	267;267	B4DF75;Q2KJY2	.;KI26B_HUMAN	N	267	ENSP00000385545:K267N	ENSP00000385545:K267N	K	+	3	2	KIF26B	243597094	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.715000	0.25822	0.133000	0.18654	0.533000	0.62120	AAA		0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		15	51	0	0	0	1	0	15	51				
TRIB3	57761	broad.mit.edu	37	20	372084	372084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:372084C>T	ENST00000217233.3	+	3	998	c.445C>T	c.(445-447)Cga>Tga	p.R149*	TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CAGCCTGGTGCGAAGCCGCCA	0.657																																					Melanoma(101;421 2374 19538)	ENST00000217233.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(445-447)Cga>Tga		tribbles pseudokinase 3							54.0	40.0	44.0					20																	372084		2203	4300	6503	SO:0001587	stop_gained	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:372084C>T	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.445C>T	20.37:g.372084C>T	ENSP00000217233:p.Arg149*					TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	p.R149*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	3	998	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	149			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Nonsense_Mutation	SNP	ENST00000217233.3	37	c.445C>T	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	C	38	6.925983	0.97940	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	.	.	.	5.15	4.14	0.48551	.	0.000000	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-37.2272	12.6573	0.56793	0.1748:0.8252:0.0:0.0	.	.	.	.	X	149;149;176	.	ENSP00000217233:R149X	R	+	1	2	TRIB3	320084	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	1.962000	0.40442	2.667000	0.90743	0.561000	0.74099	CGA		0.657	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		50	191	0	0	0	1	0	50	191				
ZNF611	81856	broad.mit.edu	37	19	53208551	53208551	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53208551C>A	ENST00000319783.1	-	7	2073	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I|ZNF611_ENST00000543227.1_Missense_Mutation_p.R586I|ZNF611_ENST00000602162.1_Missense_Mutation_p.R517I	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ACTATGAACTCTATGATGGCA	0.438																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1756-1758)aGa>aTa		zinc finger protein 611							258.0	235.0	243.0					19																	53208551		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208551C>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1757G>T	19.37:g.53208551C>A	ENSP00000322427:p.Arg586Ile					ZNF611_ENST00000602162.1_Missense_Mutation_p.R517I|ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000319783.1_Missense_Mutation_p.R586I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I	p.R586I	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2031	-			586					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1757G>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788816	0.31685	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	1.58	0.308	0.15815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	L	0.58810	1.83	0.09310	N	1	P	0.37612	0.602	B	0.37239	0.244	T	0.16276	-1.0408	9	0.59425	D	0.04	.	4.7739	0.13169	0.2223:0.3359:0.4418:0.0	.	586	Q8N823	ZN611_HUMAN	I	586;586;517;586	ENSP00000437616:R586I;ENSP00000439211:R586I;ENSP00000443505:R517I;ENSP00000322427:R586I	ENSP00000322427:R586I	R	-	2	0	ZNF611	57900363	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.834000	0.04391	-0.045000	0.13468	0.313000	0.20887	AGA		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		242	1116	1	0	1.14397e-64	1	1.44579e-64	242	1116				
LYST	1130	broad.mit.edu	37	1	235964335	235964335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235964335C>T	ENST00000389794.3	-	9	3949	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	LYST_ENST00000389793.2_Missense_Mutation_p.E1259K|LYST_ENST00000536965.1_Missense_Mutation_p.E1259K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1259					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGAGGTTTTCGAGTAAGTCA	0.383																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3775-3777)Gaa>Aaa		lysosomal trafficking regulator							104.0	107.0	106.0					1																	235964335		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235964335C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3775G>A	1.37:g.235964335C>T	ENSP00000374444:p.Glu1259Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E1259K|LYST_ENST00000536965.1_Missense_Mutation_p.E1259K	p.E1259K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		9	3949	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1259					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3775G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488528	0.84854	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62788	0.0;0.0;1.15	5.86	4.95	0.65309	.	0.382888	0.30630	N	0.009210	T	0.71634	0.3363	L	0.43152	1.355	0.42271	D	0.992054	D;P	0.89917	1.0;0.528	D;B	0.80764	0.994;0.031	T	0.73566	-0.3942	10	0.52906	T	0.07	.	13.5533	0.61745	0.0:0.928:0.0:0.072	.	1259;1259	Q99698-3;Q99698	.;LYST_HUMAN	K	1259	ENSP00000374444:E1259K;ENSP00000374443:E1259K;ENSP00000438315:E1259K	ENSP00000374443:E1259K	E	-	1	0	LYST	234030958	0.869000	0.29996	0.800000	0.32199	0.934000	0.57294	1.500000	0.35682	1.617000	0.50277	0.650000	0.86243	GAA		0.383	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			67	387	0	0	0	1	0	67	387				
SLC26A4	5172	broad.mit.edu	37	7	107341615	107341615	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107341615A>C	ENST00000265715.3	+	16	2001	c.1777A>C	c.(1777-1779)Aaa>Caa	p.K593Q	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q|SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q|SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	593	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAAACTAATAAAAAGTGGACA	0.338									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1777-1779)Aaa>Caa		solute carrier family 26 (anion exchanger), member 4							83.0	89.0	87.0					7																	107341615		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107341615A>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1777A>C	7.37:g.107341615A>C	ENSP00000265715:p.Lys593Gln					SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q|SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q	p.K593Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			16	2001	+			593			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1777A>C	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884273	0.51908	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95656	-3.35;-3.71;-3.77;-3.76	5.72	4.55	0.56014	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.054607	0.64402	N	0.000001	D	0.94614	0.8264	M	0.69185	2.1	0.38988	D	0.959096	B;B;B	0.30793	0.251;0.295;0.046	B;B;B	0.37943	0.141;0.237;0.261	D	0.92680	0.6157	10	0.33141	T	0.24	.	13.0168	0.58762	0.8651:0.1348:0.0:0.0	.	154;180;593	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Q	593;154;180;162	ENSP00000265715:K593Q;ENSP00000439743:K154Q;ENSP00000437427:K180Q;ENSP00000441209:K162Q	ENSP00000265715:K593Q	K	+	1	0	SLC26A4	107128851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.690000	0.68241	0.987000	0.38709	0.533000	0.62120	AAA		0.338	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		12	262	0	0	0	1	0	12	262				
ZNF445	353274	broad.mit.edu	37	3	44492866	44492866	+	Missense_Mutation	SNP	C	C	T	rs199898781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44492866C>T	ENST00000396077.2	-	4	885	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	ZNF445_ENST00000425708.2_Missense_Mutation_p.G180R	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	180					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGTGGTCCCCCAGAGCAGAG	0.587																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(538-540)Ggg>Agg		zinc finger protein 445							108.0	110.0	109.0					3																	44492866		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44492866C>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.538G>A	3.37:g.44492866C>T	ENSP00000379387:p.Gly180Arg					ZNF445_ENST00000396077.2_Missense_Mutation_p.G180R	p.G180R			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	3	879	-			180					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.538G>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.319933	0.41096	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.05855	3.38;3.38	4.63	2.73	0.32206	.	0.311846	0.23426	N	0.048304	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	P;P	0.50272	0.933;0.933	P;P	0.45913	0.497;0.497	T	0.30909	-0.9962	10	0.40728	T	0.16	.	7.562	0.27857	0.1891:0.6282:0.1827:0.0	.	180;180	B7ZKX2;P59923	.;ZN445_HUMAN	R	180;180;173;178	ENSP00000413073:G180R;ENSP00000379387:G180R	ENSP00000342436:G173R	G	-	1	0	ZNF445	44467870	0.000000	0.05858	0.140000	0.22221	0.991000	0.79684	0.103000	0.15292	0.625000	0.30304	0.491000	0.48974	GGG		0.587	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		154	615	0	0	0	1	0	154	615				
PCDHB14	56122	broad.mit.edu	37	5	140604652	140604652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604652G>T	ENST00000239449.4	+	1	1575	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTACAGGAGTTCGAGT	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1573-1575)caG>caT									79.0	85.0	83.0					5																	140604652		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604652G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1575G>T	5.37:g.140604652G>T	ENSP00000239449:p.Gln525His					PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	p.Q525H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1575	+			525			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1575G>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	13.43	2.234204	0.39498	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	-5.01	0.02991	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.07458	0.0188	M	0.81802	2.56	0.09310	N	1	D	0.69078	0.997	D	0.66979	0.948	T	0.00356	-1.1793	9	0.66056	D	0.02	.	9.7535	0.40490	0.1936:0.4883:0.3181:0.0	.	525	Q9Y5E9	PCDBE_HUMAN	H	372;525	ENSP00000444518:Q372H;ENSP00000239449:Q525H	ENSP00000239449:Q525H	Q	+	3	2	PCDHB14	140584836	0.000000	0.05858	0.002000	0.10522	0.757000	0.42996	-2.831000	0.00743	-1.095000	0.03050	0.556000	0.70494	CAG		0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		82	734	1	0	1.8615e-32	1	2.19839e-32	82	734				
NAV1	89796	broad.mit.edu	37	1	201751924	201751924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201751924G>T	ENST00000367296.4	+	6	2704	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	762					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGCTCCCCAGAAAGTACTCC	0.567																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(2284-2286)Gaa>Taa		neuron navigator 1							44.0	43.0	43.0					1																	201751924		2203	4300	6503	SO:0001587	stop_gained	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201751924G>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2284G>T	1.37:g.201751924G>T	ENSP00000356265:p.Glu762*					NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|IPO9-AS1_ENST00000413035.1_RNA	p.E762*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			6	2704	+			762					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	ENST00000367296.4	37	c.2284G>T	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.819315|10.819315	0.99472|0.99472	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|.	.|.	.|.	5.47|5.47	4.56|4.56	0.56223|0.56223	.|.	0.177079|.	0.48286|.	D|.	0.000192|.	.|T	.|0.53916	.|0.1826	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63915	.|-0.6529	.|3	0.12103|.	T|.	0.63|.	-28.5937|-28.5937	10.0968|10.0968	0.42480|0.42480	0.1543:0.0:0.8457:0.0|0.1543:0.0:0.8457:0.0	.|.	.|.	.|.	.|.	X|I	775;762;762;762;762;270;371|319	.|.	ENSP00000295624:E762X|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200018547|200018547	1.000000|1.000000	0.71417|0.71417	0.630000|0.630000	0.29268|0.29268	0.989000|0.989000	0.77384|0.77384	5.855000|5.855000	0.69510|0.69510	1.336000|1.336000	0.45506|0.45506	-0.218000|-0.218000	0.12543|0.12543	GAA|AGA		0.567	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		74	261	1	0	7.62596e-35	1	9.08233e-35	74	261				
FBXO34	55030	broad.mit.edu	37	14	55818033	55818033	+	Missense_Mutation	SNP	C	C	T	rs377640813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818033C>T	ENST00000313833.4	+	2	1170	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	309										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TAACAGCTTCCGTCGAAATGT	0.537																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(925-927)Cgt>Tgt		F-box protein 34		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	111.0	112.0		925,925	2.7	0.4	14		112	0,8600		0,0,4300	no	missense,missense	FBXO34	NM_017943.3,NM_152231.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	309/712,309/712	55818033	1,13005	2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818033C>T	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.925C>T	14.37:g.55818033C>T	ENSP00000313159:p.Arg309Cys					FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	p.R309C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1170	+			309					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.925C>T	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481727	0.26598	2.27E-4	0.0	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.27104	1.69;1.69	5.48	2.7	0.31948	.	0.643718	0.14116	N	0.340394	T	0.23766	0.0575	M	0.72894	2.215	0.51767	D	0.999938	B	0.32939	0.391	B	0.23419	0.046	T	0.06356	-1.0831	10	0.87932	D	0	-6.6979	5.6371	0.17542	0.1376:0.6488:0.0:0.2136	.	309	Q9NWN3	FBX34_HUMAN	C	309	ENSP00000313159:R309C;ENSP00000394117:R309C	ENSP00000313159:R309C	R	+	1	0	FBXO34	54887786	1.000000	0.71417	0.370000	0.25965	0.046000	0.14306	3.229000	0.51278	0.436000	0.26393	0.650000	0.86243	CGT		0.537	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			22	663	0	0	0	1	0	22	663				
LRRC16A	55604	broad.mit.edu	37	6	25488745	25488745	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25488745C>T	ENST00000329474.6	+	13	1365	c.997C>T	c.(997-999)Cca>Tca	p.P333S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	333					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTGCCAATCCATTGACCGC	0.468																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(997-999)Cca>Tca		leucine rich repeat containing 16A							182.0	180.0	181.0					6																	25488745		1957	4160	6117	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25488745C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.997C>T	6.37:g.25488745C>T	ENSP00000331983:p.Pro333Ser						p.P333S	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			13	1365	+			333					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.997C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246328	0.22796	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54675	0.56	4.99	4.13	0.48395	.	0.321867	0.33610	N	0.004730	T	0.16514	0.0397	N	0.22421	0.69	0.80722	D	1	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.19148	0.004;0.004;0.024	T	0.08827	-1.0703	10	0.08381	T	0.77	.	10.5987	0.45354	0.0:0.8302:0.0:0.1698	.	333;333;333	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	S	333	ENSP00000331983:P333S	ENSP00000331983:P333S	P	+	1	0	LRRC16A	25596724	1.000000	0.71417	0.868000	0.34077	0.725000	0.41563	5.489000	0.66875	1.230000	0.43646	-0.136000	0.14681	CCA		0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		120	557	0	0	0	1	0	120	557				
COL6A6	131873	broad.mit.edu	37	3	130285742	130285742	+	Nonsense_Mutation	SNP	C	C	A	rs374174918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130285742C>A	ENST00000358511.6	+	4	1510	c.1479C>A	c.(1477-1479)taC>taA	p.Y493*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	493	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAATAAATACTCCAACAAGC	0.488																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1477-1479)taC>taA		collagen, type VI, alpha 6							111.0	113.0	113.0					3																	130285742		1909	4120	6029	SO:0001587	stop_gained	131873				axon guidance|cell adhesion	collagen		g.chr3:130285742C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1479C>A	3.37:g.130285742C>A	ENSP00000351310:p.Tyr493*					COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	p.Y493*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1510	+			493			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Nonsense_Mutation	SNP	ENST00000358511.6	37	c.1479C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822826	0.96989	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.18	1.37	0.22104	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.033	0.36271	0.0:0.6915:0.0:0.3085	.	.	.	.	X	493	.	ENSP00000351310:Y493X	Y	+	3	2	COL6A6	131768432	0.091000	0.21658	0.011000	0.14972	0.541000	0.35023	0.641000	0.24720	-0.033000	0.13736	-0.254000	0.11334	TAC		0.488	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		108	434	1	0	7.52027e-40	1	9.1024e-40	108	434				
TLL2	7093	broad.mit.edu	37	10	98188430	98188430	+	Missense_Mutation	SNP	G	G	A	rs566307721		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98188430G>A	ENST00000357947.3	-	5	821	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	199	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCCTCATCCGTCCTTTCTAT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19467	0.0		0.0	False		,,,				2504	0.001					ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(595-597)aCg>aTg		tolloid-like 2							139.0	115.0	123.0					10																	98188430		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98188430G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.596C>T	10.37:g.98188430G>A	ENSP00000350630:p.Thr199Met					TLL2_ENST00000469598.1_5'UTR	p.T199M	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	5	821	-		Colorectal(252;0.0846)	199			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.596C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148195	0.78001	.	.	ENSG00000095587	ENST00000357947	T	0.66099	-0.19	5.67	5.67	0.87782	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.45126	D	0.000396	T	0.70666	0.3250	M	0.79343	2.45	0.80722	D	1	P	0.49358	0.923	P	0.45881	0.496	T	0.75587	-0.3266	10	0.66056	D	0.02	.	18.8134	0.92068	0.0:0.0:1.0:0.0	.	199	Q9Y6L7	TLL2_HUMAN	M	199	ENSP00000350630:T199M	ENSP00000350630:T199M	T	-	2	0	TLL2	98178420	1.000000	0.71417	0.960000	0.40013	0.621000	0.37620	7.856000	0.86956	2.676000	0.91093	0.650000	0.86243	ACG		0.493	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			54	316	0	0	0	1	0	54	316				
RYR1	6261	broad.mit.edu	37	19	38976414	38976414	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38976414C>T	ENST00000359596.3	+	34	5119	c.5119C>T	c.(5119-5121)Cgc>Tgc	p.R1707C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1707C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1707	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGCCCACTGCGCGCAGGCTA	0.652																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5119-5121)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						59.0	59.0	59.0					19																	38976414		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976414C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5119C>T	19.37:g.38976414C>T	ENSP00000352608:p.Arg1707Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1707C	p.R1707C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5250	+	all_cancers(60;7.91e-06)		1707			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5119C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987909	0.35036	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74842	-0.88;-0.88;-0.88	3.98	2.87	0.33458	.	0.000000	0.64402	U	0.000007	D	0.86590	0.5969	M	0.87180	2.865	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89280	0.3611	10	0.87932	D	0	.	13.7048	0.62631	0.165:0.835:0.0:0.0	.	1707;1707	P21817-2;P21817	.;RYR1_HUMAN	C	1707	ENSP00000352608:R1707C;ENSP00000347667:R1707C;ENSP00000354254:R1707C	ENSP00000347667:R1707C	R	+	1	0	RYR1	43668254	1.000000	0.71417	0.935000	0.37517	0.263000	0.26337	4.695000	0.61767	2.048000	0.60808	0.585000	0.79938	CGC		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			104	449	0	0	0	1	0	104	449				
CEP250	11190	broad.mit.edu	37	20	34061768	34061768	+	Missense_Mutation	SNP	C	C	T	rs151167358	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34061768C>T	ENST00000397527.1	+	14	2182	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.R488C|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	488	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGGCATGGCGCCTGCGAAG	0.627																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1462-1464)Cgc>Tgc		centrosomal protein 250kDa		C	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	38.0	40.0	39.0		1462	1.9	0.9	20	dbSNP_134	39	0,8600		0,0,4300	yes	missense	CEP250	NM_007186.3	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	488/2443	34061768	7,12999	2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34061768C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1462C>T	20.37:g.34061768C>T	ENSP00000380661:p.Arg488Cys					CEP250_ENST00000342580.4_Missense_Mutation_p.R488C	p.R488C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		14	2182	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		488			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.1462C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710481	0.68730	0.001589	0.0	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934	T;T;T	0.25579	2.73;2.76;1.79	5.14	1.89	0.25635	.	0.000000	0.47093	D	0.000244	T	0.32704	0.0838	N	0.24115	0.695	0.41004	D	0.984958	D	0.89917	1.0	D	0.71870	0.975	T	0.02713	-1.1120	10	0.46703	T	0.11	.	12.3911	0.55358	0.444:0.556:0.0:0.0	.	488	Q9BV73	CP250_HUMAN	C	488;488;487	ENSP00000380661:R488C;ENSP00000341541:R488C;ENSP00000413827:R487C	ENSP00000341541:R488C	R	+	1	0	CEP250	33525182	0.997000	0.39634	0.888000	0.34837	0.996000	0.88848	0.820000	0.27323	0.113000	0.18004	0.655000	0.94253	CGC		0.627	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	188	0	0	0	1	0	5	188				
COL9A1	1297	broad.mit.edu	37	6	70964196	70964196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70964196C>T	ENST00000357250.6	-	25	1860	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	568	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCTGCAATCCTGCATCACCA	0.373																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1702-1704)Gga>Aga		collagen, type IX, alpha 1							72.0	68.0	70.0					6																	70964196		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964196C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1702G>A	6.37:g.70964196C>T	ENSP00000349790:p.Gly568Arg					COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R|COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R|COL9A1_ENST00000489611.1_5'UTR	p.G568R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			25	1860	-			568			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1702G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249956	0.59212	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99454	4.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96439	0.9325	10	0.87932	D	0	.	18.1361	0.89619	0.0:1.0:0.0:0.0	.	568;325;141	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	R	568;325;325	ENSP00000349790:G568R;ENSP00000315252:G325R;ENSP00000359530:G325R	ENSP00000315252:G325R	G	-	1	0	COL9A1	71020917	0.999000	0.42202	0.262000	0.24481	0.990000	0.78478	6.026000	0.70873	2.713000	0.92767	0.591000	0.81541	GGA		0.373	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			54	213	0	0	0	1	0	54	213				
XIRP1	165904	broad.mit.edu	37	3	39225970	39225970	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39225970G>T	ENST00000340369.3	-	2	5195	c.4967C>A	c.(4966-4968)cCt>cAt	p.P1656H	XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1656					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AACCCGAGGAGGGCACAAATA	0.527																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(4966-4968)cCt>cAt		xin actin-binding repeat containing 1							101.0	95.0	97.0					3																	39225970		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225970G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4967C>A	3.37:g.39225970G>T	ENSP00000343140:p.Pro1656His					XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H|XIRP1_ENST00000396251.1_3'UTR	p.P1656H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5195	-			1656					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4967C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	4.719	0.133681	0.09032	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.17213	3.98;2.29	4.75	2.33	0.28932	.	1.456000	0.05177	U	0.500616	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.33846	0.171	T	0.24977	-1.0145	10	0.44086	T	0.13	.	6.6259	0.22828	0.801:0.0:0.199:0.0	.	1656	Q702N8	XIRP1_HUMAN	H	1656;339	ENSP00000343140:P1656H;ENSP00000391645:P339H	ENSP00000343140:P1656H	P	-	2	0	XIRP1	39200974	1.000000	0.71417	0.102000	0.21198	0.099000	0.18886	3.498000	0.53302	0.286000	0.22352	-0.294000	0.09567	CCT		0.527	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		19	460	1	0	5.3912e-06	1	5.54037e-06	19	460				
SPEN	23013	broad.mit.edu	37	1	16254623	16254623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16254623C>T	ENST00000375759.3	+	11	2092	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	630	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAACCAAGATCGTACATATTA	0.408																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(1888-1890)Cgt>Tgt		spen family transcriptional repressor							79.0	80.0	80.0					1																	16254623		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16254623C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1888C>T	1.37:g.16254623C>T	ENSP00000364912:p.Arg630Cys						p.R630C	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2092	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	630			Arg-rich.|Tyr-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.1888C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013004	0.54468	.	.	ENSG00000065526	ENST00000375759	T	0.12039	2.72	4.54	4.54	0.55810	.	.	.	.	.	T	0.28566	0.0707	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03898	-1.0994	9	0.72032	D	0.01	-7.2375	17.8431	0.88720	0.0:1.0:0.0:0.0	.	630	Q96T58	MINT_HUMAN	C	630	ENSP00000364912:R630C	ENSP00000364912:R630C	R	+	1	0	SPEN	16127210	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.465000	0.60141	2.514000	0.84764	0.563000	0.77884	CGT		0.408	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		88	344	0	0	0	1	0	88	344				
OTOR	56914	broad.mit.edu	37	20	16729634	16729634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16729634G>T	ENST00000246081.2	+	2	282	c.238G>T	c.(238-240)Gaa>Taa	p.E80*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	80	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGAGCTGGAGAATTTTGGGC	0.363																																						ENST00000246081.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(238-240)Gaa>Taa		otoraplin							62.0	65.0	64.0					20																	16729634		2203	4300	6503	SO:0001587	stop_gained	56914				sensory perception of sound	extracellular region		g.chr20:16729634G>T	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.238G>T	20.37:g.16729634G>T	ENSP00000246081:p.Glu80*						p.E80*	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN			2	282	+			80			SH3.		D3DW22|Q3MIU6	Nonsense_Mutation	SNP	ENST00000246081.2	37	c.238G>T	CCDS13124.1	.	.	.	.	.	.	.	.	.	.	G	37	6.444330	0.97572	.	.	ENSG00000125879	ENST00000246081	.	.	.	5.93	5.93	0.95920	.	0.108254	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-33.135	18.5344	0.91004	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000246081:E80X	E	+	1	0	OTOR	16677634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	2.826000	0.97356	0.655000	0.94253	GAA		0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2			61	227	1	0	9.53978e-28	1	1.10624e-27	61	227				
EFHD2	79180	broad.mit.edu	37	1	15753776	15753776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15753776C>T	ENST00000375980.4	+	3	664	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	196						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTGAGGCCAAGGTGAGG	0.642																																						ENST00000375980.4																			0				large_intestine(1)|skin(1)	2						c.(586-588)gCc>gTc		EF-hand domain family, member D2							27.0	27.0	27.0					1																	15753776		2203	4299	6502	SO:0001583	missense	79180					membrane raft		g.chr1:15753776C>T	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"""EF-hand domain containing"""	28670	protein-coding gene	gene with protein product	"""swiprosin-1"""		"""EF hand domain containing 2"""			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.587C>T	1.37:g.15753776C>T	ENSP00000365147:p.Ala196Val						p.A196V	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	664	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	196					Q5JYW9	Missense_Mutation	SNP	ENST00000375980.4	37	c.587C>T	CCDS155.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120565	0.77323	.	.	ENSG00000142634	ENST00000375980;ENST00000375975	T	0.47528	0.84	4.07	4.07	0.47477	.	0.059184	0.64402	D	0.000003	T	0.72244	0.3436	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79269	-0.1873	10	0.87932	D	0	-25.3155	15.7247	0.77747	0.0:1.0:0.0:0.0	.	196	Q96C19	EFHD2_HUMAN	V	196;97	ENSP00000365147:A196V	ENSP00000365142:A97V	A	+	2	0	EFHD2	15626363	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	7.780000	0.85658	2.209000	0.71365	0.561000	0.74099	GCC		0.642	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	NM_024329		4	48	0	0	0	1	0	4	48				
WDR3	10885	broad.mit.edu	37	1	118501532	118501532	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118501532G>T	ENST00000349139.5	+	26	2629		c.e26-1		SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTTCTATCAGGATTCACTTT	0.383																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.e26-1		WD repeat domain 3							84.0	81.0	82.0					1																	118501532		2203	4300	6503	SO:0001630	splice_region_variant	10885					nuclear membrane|nucleolus		g.chr1:118501532G>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2583-1G>T	1.37:g.118501532G>T						SPAG17_ENST00000336338.5_Intron		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	26	2629	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)							Splice_Site	SNP	ENST00000349139.5	37		CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474166	0.63737	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6756	0.95930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR3	118303055	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.330000	0.96422	2.664000	0.90586	0.543000	0.68304	.		0.383	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	Intron	23	263	1	0	1.96895e-08	1	2.05624e-08	23	263				
KIT	3815	broad.mit.edu	37	4	55597497	55597497	+	Silent	SNP	C	C	T	rs192110951	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55597497C>T	ENST00000288135.5	+	15	2242	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs56094246). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S715del(7)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				C|||	2	0.000399361	0.0	0.0	5008	,	,		20107	0.002		0.0	False		,,,				2504	0.0					ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		7	Deletion - In frame(7)	p.S715del(7)	soft_tissue(7)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2143-2145)agC>agT		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						110.0	102.0	105.0					4																	55597497		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55597497C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2145C>T	4.37:g.55597497C>T							p.S715S	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	15	2242	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		715		S -> N (in dbSNP:rs56094246).	Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.2145C>T	CCDS3496.1																																																																																				0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			36	184	0	0	0	1	0	36	184				
ADAM29	11086	broad.mit.edu	37	4	175898652	175898652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175898652G>T	ENST00000359240.3	+	5	2646	c.1976G>T	c.(1975-1977)gGa>gTa	p.G659V	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V|ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	659					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAGGCTATGGAGGTAGTGTT	0.398																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1975-1977)gGa>gTa		ADAM metallopeptidase domain 29							45.0	45.0	45.0					4																	175898652		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898652G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1976G>T	4.37:g.175898652G>T	ENSP00000352177:p.Gly659Val					ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V|ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V|ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V	p.G659V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2646	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	659					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1976G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497916	0.44455	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	3.32	3.32	0.38043	.	0.000000	0.34362	U	0.004024	D	0.89022	0.6597	M	0.84219	2.685	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	D	0.89814	0.3984	9	.	.	.	.	12.9119	0.58184	0.0:0.0:1.0:0.0	.	659	Q9UKF5	ADA29_HUMAN	V	659	ENSP00000352177:G659V;ENSP00000414544:G659V;ENSP00000384229:G659V;ENSP00000423517:G659V	.	G	+	2	0	ADAM29	176135227	1.000000	0.71417	0.984000	0.44739	0.355000	0.29361	7.100000	0.76989	2.150000	0.67090	0.643000	0.83706	GGA		0.398	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				20	213	1	0	1.10513e-12	1	1.18868e-12	20	213				
MIPOL1	145282	broad.mit.edu	37	14	38016120	38016120	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38016120C>T	ENST00000327441.7	+	14	1739	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000396294.2_Silent_p.L425L|MIPOL1_ENST00000536774.1_Silent_p.L244L|MIPOL1_ENST00000539062.2_Silent_p.L394L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	425						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GTTGGAAAGGCTGGTGGATGT	0.473																																						ENST00000327441.7																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1273-1275)Ctg>Ttg		mirror-image polydactyly 1							111.0	102.0	105.0					14																	38016120		2203	4300	6503	SO:0001819	synonymous_variant	145282							g.chr14:38016120C>T	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1273C>T	14.37:g.38016120C>T						MIPOL1_ENST00000536774.1_Silent_p.L244L|MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000539062.2_Silent_p.L394L|MIPOL1_ENST00000396294.2_Silent_p.L425L	p.L425L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	14	1739	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		425					D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	37	c.1273C>T	CCDS9664.1																																																																																				0.473	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		21	115	0	0	0	1	0	21	115				
USP2	9099	broad.mit.edu	37	11	119243427	119243427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119243427C>A	ENST00000260187.2	-	2	1058	c.764G>T	c.(763-765)aGa>aTa	p.R255I	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	255					cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CATGCCGTCTCTTCCCGGGGA	0.642																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(763-765)aGa>aTa		ubiquitin specific peptidase 2							30.0	35.0	33.0					11																	119243427		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243427C>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.764G>T	11.37:g.119243427C>A	ENSP00000260187:p.Arg255Ile					USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	p.R255I	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	1058	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	255					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.764G>T	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417086	0.42918	.	.	ENSG00000036672	ENST00000260187;ENST00000530918	T	0.21734	1.99	5.37	4.46	0.54185	.	0.849233	0.10346	N	0.685653	T	0.28566	0.0707	M	0.73430	2.235	0.80722	D	1	B	0.26258	0.145	B	0.31686	0.134	T	0.06285	-1.0835	10	0.52906	T	0.07	-1.6389	7.9324	0.29909	0.0:0.7531:0.1604:0.0865	.	255	O75604	UBP2_HUMAN	I	255;225	ENSP00000260187:R255I	ENSP00000260187:R255I	R	-	2	0	USP2	118748637	0.995000	0.38212	1.000000	0.80357	0.923000	0.55619	1.263000	0.33004	1.259000	0.44117	-0.137000	0.14449	AGA		0.642	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		26	268	1	0	7.92952e-12	1	8.47903e-12	26	268				
SNHG14	104472715	broad.mit.edu	37	15	25436561	25436561	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25436561T>C	ENST00000424208.1	+	0	1092				SNORD115-12_ENST00000362583.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGCCCTGGGTTGGGTCGATG	0.542																																						ENST00000424208.1																			0																				364.0	364.0	364.0					15																	25436561		876	1991	2867			0							g.chr15:25436561T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436561T>C						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1092	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.542	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			152	1515	0	0	0	1	0	152	1515				
ODF4	146852	broad.mit.edu	37	17	8243676	8243676	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8243676A>C	ENST00000328248.2	+	1	495	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q	ODF4_ENST00000584943.1_Intron|RP11-849F2.4_ENST00000585275.1_lincRNA	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	103					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTCTCCAAGAAATGGCTGGA	0.557																																						ENST00000328248.2																			0				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(307-309)Aaa>Caa		outer dense fiber of sperm tails 4							45.0	41.0	42.0					17																	8243676		2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243676A>C	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.307A>C	17.37:g.8243676A>C	ENSP00000331086:p.Lys103Gln					ODF4_ENST00000584943.1_Intron	p.K103Q	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN			1	495	+			103					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.307A>C	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444775	0.25987	.	.	ENSG00000184650	ENST00000328248	T	0.25749	1.78	4.89	2.47	0.30058	.	0.425172	0.20109	N	0.099047	T	0.20495	0.0493	L	0.43923	1.385	0.40096	D	0.976312	P	0.36392	0.551	B	0.34779	0.189	T	0.07009	-1.0795	10	0.66056	D	0.02	-10.367	9.0114	0.36144	0.6393:0.3607:0.0:0.0	.	103	Q2M2E3	ODFP4_HUMAN	Q	103	ENSP00000331086:K103Q	ENSP00000331086:K103Q	K	+	1	0	ODF4	8184401	0.957000	0.32711	0.990000	0.47175	0.012000	0.07955	1.522000	0.35921	0.848000	0.35191	0.533000	0.62120	AAA		0.557	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			17	87	0	0	0	1	0	17	87				
OBSCN	84033	broad.mit.edu	37	1	228525846	228525846	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228525846G>A	ENST00000422127.1	+	67	17045		c.e67+1		OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGCTCAAGGTATCTGAATG	0.682																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.e78+1		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							17.0	18.0	18.0					1																	228525846		1947	4131	6078	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228525846G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17001+1G>A	1.37:g.228525846G>A						OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site		NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			78	19946	+		Prostate(94;0.0405)						Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37		CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710945	0.68730	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000441106	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9763	0.86314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226592469	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.531000	0.98054	2.324000	0.78689	0.491000	0.48974	.		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Intron	33	98	0	0	0	1	0	33	98				
FAM210B	116151	broad.mit.edu	37	20	54945360	54945360	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54945360C>T	ENST00000371384.3	+	0	3046				AURKA_ENST00000395914.1_Missense_Mutation_p.A356T|AURKA_ENST00000395913.3_Missense_Mutation_p.A356T|AURKA_ENST00000395915.3_Missense_Mutation_p.A356T|AURKA_ENST00000371356.2_Missense_Mutation_p.A356T|AURKA_ENST00000312783.6_Missense_Mutation_p.A356T|AURKA_ENST00000395911.1_Missense_Mutation_p.A356T|AURKA_ENST00000347343.2_Missense_Mutation_p.A356T|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395909.4_Missense_Mutation_p.A356T	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)											AGGTCCCTGGCTCCCTCTGTT	0.413																																						ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(1066-1068)Gcc>Acc		aurora kinase A							91.0	84.0	86.0					20																	54945360		2203	4300	6503	SO:0001628	intergenic_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54945360C>T	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945360C>T						AURKA_ENST00000395914.1_Missense_Mutation_p.A356T|AURKA_ENST00000347343.2_Missense_Mutation_p.A356T|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395915.3_Missense_Mutation_p.A356T|AURKA_ENST00000395911.1_Missense_Mutation_p.A356T|AURKA_ENST00000312783.6_Missense_Mutation_p.A356T|AURKA_ENST00000395913.3_Missense_Mutation_p.A356T|AURKA_ENST00000371356.2_Missense_Mutation_p.A356T	p.A356T	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		11	1631	-			356			Protein kinase.		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.1066G>A	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046595	0.93740	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.82820	0.5120	M	0.78801	2.425	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.76071	0.94;0.987;0.987	D	0.84786	0.0776	10	0.87932	D	0	-6.2463	19.2213	0.93797	0.0:1.0:0.0:0.0	.	288;356;356	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	T	356	ENSP00000379245:A356T;ENSP00000379250:A356T;ENSP00000216911:A356T;ENSP00000379251:A356T;ENSP00000321591:A356T;ENSP00000360407:A356T;ENSP00000379249:A356T;ENSP00000379247:A356T	ENSP00000321591:A356T	A	-	1	0	AURKA	54378767	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.648000	0.67930	2.615000	0.88500	0.650000	0.86243	GCC		0.413	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		65	300	0	0	0	1	0	65	300				
FGFBP1	9982	broad.mit.edu	37	4	15937605	15937605	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15937605A>C	ENST00000382333.1	-	3	945	c.651T>G	c.(649-651)acT>acG	p.T217T	FGFBP1_ENST00000259988.2_Silent_p.T217T	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	217	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GAGAGCTCCAAGTCTCTCCAC	0.517																																						ENST00000382333.1																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(649-651)acT>acG		fibroblast growth factor binding protein 1							132.0	135.0	134.0					4																	15937605		2203	4300	6503	SO:0001819	synonymous_variant	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15937605A>C	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.651T>G	4.37:g.15937605A>C						FGFBP1_ENST00000259988.2_Silent_p.T217T	p.T217T	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN			3	945	-			217			Sufficient for interaction with FGF2 and FGF2-induced effects.		A8K5J2	Silent	SNP	ENST00000382333.1	37	c.651T>G	CCDS3418.1																																																																																				0.517	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		137	638	0	0	0	1	0	137	638				
VPS37B	79720	broad.mit.edu	37	12	123352062	123352062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123352062C>T	ENST00000267202.2	-	4	840	c.459G>A	c.(457-459)cgG>cgA	p.R153R	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	153	Interaction with IST1.|VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGATTTTCACCCGTCGCATGT	0.562																																						ENST00000267202.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(457-459)cgG>cgA		vacuolar protein sorting 37 homolog B (S. cerevisiae)							122.0	127.0	125.0					12																	123352062		2203	4300	6503	SO:0001819	synonymous_variant	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123352062C>T	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.459G>A	12.37:g.123352062C>T							p.R153R	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	840	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		153			Interaction with IST1.|VPS37 C-terminal.			Silent	SNP	ENST00000267202.2	37	c.459G>A	CCDS9239.1																																																																																				0.562	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		144	874	0	0	0	1	0	144	874				
SMG1	23049	broad.mit.edu	37	16	18840938	18840938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18840938C>T	ENST00000446231.2	-	54	9685	c.9273G>A	c.(9271-9273)agG>agA	p.R3091R	SMG1_ENST00000389467.3_Silent_p.R3091R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3091					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCAAGAGCTGCCTCACAAAGT	0.458																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(9271-9273)agG>agA		SMG1 phosphatidylinositol 3-kinase-related kinase							57.0	57.0	57.0					16																	18840938		1907	4120	6027	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18840938C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9273G>A	16.37:g.18840938C>T						SMG1_ENST00000389467.3_Silent_p.R3091R	p.R3091R			Q96Q15	SMG1_HUMAN			54	9685	-			3091					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.9273G>A	CCDS45430.1																																																																																				0.458	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		30	154	0	0	0	1	0	30	154				
PIK3CD	5293	broad.mit.edu	37	1	9776551	9776551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9776551C>T	ENST00000377346.4	+	6	849	c.654C>T	c.(652-654)gcC>gcT	p.A218A	PIK3CD_ENST00000536656.1_Silent_p.A218A|PIK3CD_ENST00000361110.2_Silent_p.A218A|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	218	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CGCTGATGGCCTGTGCCCTGC	0.657																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(652-654)gcC>gcT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							46.0	38.0	41.0					1																	9776551		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9776551C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.654C>T	1.37:g.9776551C>T						PIK3CD_ENST00000361110.2_Silent_p.A218A|PIK3CD_ENST00000377346.4_Silent_p.A218A	p.A218A			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	6	862	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	218					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.654C>T	CCDS104.1																																																																																				0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		18	194	0	0	0	1	0	18	194				
TRBV2	28620	broad.mit.edu	37	7	142000992	142000992	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142000992C>T	ENST00000455382.2	+	0	158									T cell receptor beta variable 2																		AGACTCCCAGCCATCAGGTCA	0.428																																						ENST00000455382.2																			0																				41.0	40.0	40.0					7																	142000992		1942	4146	6088			0							g.chr7:142000992C>T	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142000992C>T														0	158	+									RNA	SNP	ENST00000455382.2	37																																																																																						0.428	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333		21	124	0	0	0	1	0	21	124				
EPHA2	1969	broad.mit.edu	37	1	16461042	16461042	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16461042A>G	ENST00000358432.5	-	8	1757	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	535					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATCACCGCCAAGTTGCCAGAT	0.592																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1603-1605)Ttg>Ctg		EPH receptor A2	Dasatinib(DB01254)						62.0	55.0	57.0					1																	16461042		2202	4300	6502	SO:0001819	synonymous_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16461042A>G	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1603T>C	1.37:g.16461042A>G							p.L535L	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	8	1757	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	535					B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	c.1603T>C	CCDS169.1																																																																																				0.592	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		34	128	0	0	0	1	0	34	128				
HSPBP1	23640	broad.mit.edu	37	19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55777302C>T	ENST00000255631.5	-	7	1155	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q|HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	285					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687																																						ENST00000255631.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(844-846)cGg>cAg		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							18.0	19.0	19.0					19																	55777302		2201	4298	6499	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55777302C>T		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.845G>A	19.37:g.55777302C>T	ENSP00000255631:p.Arg282Gln					HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q|HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q	p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1155	-			285					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.845G>A	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.640143	0.47153	.	.	ENSG00000133265	ENST00000433386;ENST00000255631	T;T	0.50548	0.74;0.74	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.201340	0.43110	D	0.000614	T	0.46619	0.1402	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.086	P;B	0.55545	0.778;0.004	T	0.26710	-1.0095	10	0.10377	T	0.69	-5.7405	15.7097	0.77615	0.0:1.0:0.0:0.0	.	285;328	Q9NZL4;B4DG11	HPBP1_HUMAN;.	Q	282	ENSP00000398244:R282Q;ENSP00000255631:R282Q	ENSP00000255631:R282Q	R	-	2	0	HSPBP1	60469114	1.000000	0.71417	0.957000	0.39632	0.983000	0.72400	2.363000	0.44178	2.058000	0.61347	0.486000	0.48141	CGG		0.687	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		7	80	0	0	0	1	0	7	80				
NAV1	89796	broad.mit.edu	37	1	201757711	201757711	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201757711C>T	ENST00000367296.4	+	10	3531	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	NAV1_ENST00000367295.1_Silent_p.A646A|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Silent_p.A1037A|NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1037					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTCCCTGGCCGAGAGACCCA	0.617																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3109-3111)gcC>gcT		neuron navigator 1							124.0	108.0	113.0					1																	201757711		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201757711C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3111C>T	1.37:g.201757711C>T						NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367295.1_Silent_p.A646A|NAV1_ENST00000295624.6_Silent_p.A1037A|NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000367302.1_Intron|IPO9-AS1_ENST00000413035.1_RNA	p.A1037A	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			10	3531	+			1037					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.3111C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529830	0.27387	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.4	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.6555	9.0935	0.36625	0.1482:0.774:0.0:0.0777	.	.	.	.	X	595	.	.	R	+	1	2	NAV1	200024334	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.310000	0.19356	2.526000	0.85167	0.561000	0.74099	CGA		0.617	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		125	590	0	0	0	1	0	125	590				
PCDH15	65217	broad.mit.edu	37	10	56129000	56129000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56129000G>A	ENST00000320301.6	-	5	748	c.354C>T	c.(352-354)gtC>gtT	p.V118V	PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000373965.2_Silent_p.V118V|PCDH15_ENST00000395433.1_Silent_p.V96V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATGCACTGGACCTGCACCA	0.398										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(352-354)gtC>gtT		protocadherin-related 15							129.0	103.0	112.0					10																	56129000		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56129000G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.354C>T	10.37:g.56129000G>A		HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000320301.6_Silent_p.V118V|PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V|PCDH15_ENST00000395433.1_Silent_p.V96V	p.V118V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			5	748	-		Melanoma(3;0.117)|Lung SC(717;0.238)	118			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.354C>T	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		44	171	0	0	0	1	0	44	171				
H6PD	9563	broad.mit.edu	37	1	9324884	9324884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324884G>A	ENST00000377403.2	+	5	2634	c.2332G>A	c.(2332-2334)Ggc>Agc	p.G778S	H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	778	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCACTCCGGCCAGCTGGT	0.647																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2332-2334)Ggc>Agc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						26.0	28.0	27.0					1																	9324884		2190	4277	6467	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324884G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2332G>A	1.37:g.9324884G>A	ENSP00000366620:p.Gly778Ser					H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	p.G778S	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2634	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	778			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2332G>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516153	0.64634	.	.	ENSG00000049239	ENST00000377403	D	0.98617	-5.03	5.73	5.73	0.89815	6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.99913	1.1211	10	0.72032	D	0.01	-39.1146	18.894	0.92416	0.0:0.0:1.0:0.0	.	778	O95479	G6PE_HUMAN	S	778	ENSP00000366620:G778S	ENSP00000366620:G778S	G	+	1	0	H6PD	9247471	1.000000	0.71417	0.935000	0.37517	0.006000	0.05464	7.600000	0.82769	2.716000	0.92895	0.561000	0.74099	GGC		0.647	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		18	226	0	0	0	1	0	18	226				
CYP1B1	1545	broad.mit.edu	37	2	38298132	38298132	+	Silent	SNP	G	G	A	rs139251365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298132G>A	ENST00000260630.3	-	3	1766	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Silent_p.D455D	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	455					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TGCTGGTCAGGTCCTTGTTGA	0.488																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(1363-1365)gaC>gaT		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)	G		1,4405	2.1+/-5.4	0,1,2202	83.0	78.0	79.0		1365	0.8	1.0	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	CYP1B1	NM_000104.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		455/544	38298132	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38298132G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1365C>T	2.37:g.38298132G>A						CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Silent_p.D455D	p.D455D	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			3	1766	-		all_hematologic(82;0.21)	455					Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	c.1365C>T	CCDS1793.1																																																																																				0.488	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		58	272	0	0	0	1	0	58	272				
PSEN2	5664	broad.mit.edu	37	1	227077790	227077790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227077790C>T	ENST00000366783.3	+	9	1278	c.842C>T	c.(841-843)gCc>gTc	p.A281V	PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V|PSEN2_ENST00000366782.1_Missense_Mutation_p.A314V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	281					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTAGAAACTGCCCAGGAGAGA	0.582																																						ENST00000366782.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(940-942)gCc>gTc		presenilin 2 (Alzheimer disease 4)							145.0	127.0	133.0					1																	227077790		2203	4300	6503	SO:0001583	missense	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227077790C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.842C>T	1.37:g.227077790C>T	ENSP00000355747:p.Ala281Val					PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000366783.3_Missense_Mutation_p.A281V|PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V	p.A314V			P49810	PSN2_HUMAN			9	1441	+		Prostate(94;0.0771)	281					A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.941C>T	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372828	0.95923	.	.	ENSG00000143801	ENST00000366783;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.89534	3.04	0.80722	D	1	P;D	0.71674	0.942;0.998	P;D	0.71414	0.855;0.973	D	0.96683	0.9505	10	0.87932	D	0	.	18.554	0.91077	0.0:1.0:0.0:0.0	.	281;281	A8K8D4;P49810	.;PSN2_HUMAN	V	281;281;108;314;314;137	ENSP00000355747:A281V;ENSP00000403737:A281V;ENSP00000427912:A108V;ENSP00000355746:A314V;ENSP00000375745:A314V;ENSP00000427806:A137V	ENSP00000355746:A314V	A	+	2	0	PSEN2	225144413	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.709000	0.84645	2.460000	0.83146	0.563000	0.77884	GCC		0.582	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		89	489	0	0	0	1	0	89	489				
CCDC115	84317	broad.mit.edu	37	2	131096740	131096740	+	Missense_Mutation	SNP	G	G	A	rs368677023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131096740G>A	ENST00000259229.2	-	5	719	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	166						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TGGAGTCCCCGGAGCTGGCTT	0.612																																						ENST00000259229.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7						c.(496-498)Cgg>Tgg		coiled-coil domain containing 115		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	60.0	61.0		496	2.2	0.7	2		61	0,8600		0,0,4300	no	missense	CCDC115	NM_032357.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	166/181	131096740	1,13005	2203	4300	6503	SO:0001583	missense	84317					endosome|lysosome		g.chr2:131096740G>A	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.496C>T	2.37:g.131096740G>A	ENSP00000259229:p.Arg166Trp					CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W	p.R166W	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN			5	719	-	Colorectal(110;0.1)		166					B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	c.496C>T	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317111	0.60524	2.27E-4	0.0	ENSG00000136710	ENST00000259229;ENST00000409127	D;D	0.94758	-3.51;-3.51	4.0	2.15	0.27550	.	0.433514	0.22936	N	0.053855	D	0.94315	0.8173	L	0.54323	1.7	0.45415	D	0.998395	D;D	0.71674	0.998;0.998	P;P	0.62491	0.742;0.903	D	0.92059	0.5655	10	0.72032	D	0.01	.	4.775	0.13175	0.1113:0.0:0.6762:0.2125	.	166;161	Q96NT0;B8ZZ99	CC115_HUMAN;.	W	166;161	ENSP00000259229:R166W;ENSP00000387301:R161W	ENSP00000259229:R166W	R	-	1	2	CCDC115	130813210	0.017000	0.18338	0.679000	0.29978	0.920000	0.55202	1.376000	0.34306	0.620000	0.30215	0.591000	0.81541	CGG		0.612	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		6	240	0	0	0	1	0	6	240				
OR10R2	343406	broad.mit.edu	37	1	158450047	158450047	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450047T>C	ENST00000368152.1	+	1	380	c.380T>C	c.(379-381)tTt>tCt	p.F127S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCCTTGGTTTTGCCATTACC	0.463																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(379-381)tTt>tCt		olfactory receptor, family 10, subfamily R, member 2							385.0	326.0	346.0					1																	158450047		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450047T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.380T>C	1.37:g.158450047T>C	ENSP00000357134:p.Phe127Ser					RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.F127S	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	380	+	all_hematologic(112;0.0378)		127					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.380T>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	16.88	3.243493	0.58995	.	.	ENSG00000198965	ENST00000368152	T	0.01287	5.05	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03136	0.0092	M	0.65677	2.01	0.24736	N	0.993066	D	0.76494	0.999	D	0.68943	0.961	T	0.27468	-1.0073	9	0.72032	D	0.01	.	12.8873	0.58051	0.0:0.0:0.0:1.0	.	127	Q8NGX6	O10R2_HUMAN	S	127	ENSP00000357134:F127S	ENSP00000357134:F127S	F	+	2	0	OR10R2	156716671	0.003000	0.15002	0.999000	0.59377	0.937000	0.57800	0.917000	0.28665	1.847000	0.53656	0.533000	0.62120	TTT		0.463	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		384	1146	0	0	0	1	0	384	1146				
HECW2	57520	broad.mit.edu	37	2	197298094	197298094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197298094C>A	ENST00000260983.3	-	2	236	c.54G>T	c.(52-54)caG>caT	p.Q18H		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	18					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGTACCGCATCTGGGGATTTC	0.592																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(52-54)caG>caT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							77.0	68.0	71.0					2																	197298094		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298094C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.54G>T	2.37:g.197298094C>A	ENSP00000260983:p.Gln18His						p.Q18H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	236	-			18					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.54G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	8.308	0.821395	0.16678	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.35973	1.28;1.28;1.28	5.27	3.43	0.39272	.	0.219450	0.41001	N	0.000968	T	0.17746	0.0426	N	0.08118	0	0.29858	N	0.827875	B	0.02656	0.0	B	0.04013	0.001	T	0.09465	-1.0673	10	0.38643	T	0.18	.	8.2327	0.31608	0.1562:0.7657:0.0:0.0782	.	18	Q9P2P5	HECW2_HUMAN	H	18	ENSP00000260983:Q18H;ENSP00000409918:Q18H;ENSP00000395770:Q18H	ENSP00000260983:Q18H	Q	-	3	2	HECW2	197006339	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.697000	0.37784	0.758000	0.33059	0.561000	0.74099	CAG		0.592	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		13	440	1	0	2.68362e-12	1	2.87888e-12	13	440				
OR51M1	390059	broad.mit.edu	37	11	5411272	5411272	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411272T>C	ENST00000328611.3	+	1	666	c.644T>C	c.(643-645)gTa>gCa	p.V215A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	215					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATGGTGGTAGTTTTCACT	0.537																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(643-645)gTa>gCa		olfactory receptor, family 51, subfamily M, member 1							144.0	138.0	140.0					11																	5411272		2046	4197	6243	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411272T>C	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.644T>C	11.37:g.5411272T>C	ENSP00000333196:p.Val215Ala					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.V215A	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	666	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	215					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.644T>C	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116938	0.37339	.	.	ENSG00000184698	ENST00000328611	T	0.35973	1.28	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.756085	0.10422	U	0.676577	T	0.42585	0.1209	N	0.13327	0.33	0.27101	N	0.962615	P	0.51653	0.947	P	0.62885	0.908	T	0.41378	-0.9512	10	0.45353	T	0.12	.	13.7333	0.62802	0.0:0.0:0.0:1.0	.	204	Q9H341	O51M1_HUMAN	A	215	ENSP00000333196:V215A	ENSP00000333196:V215A	V	+	2	0	OR51M1	5367848	0.000000	0.05858	0.414000	0.26521	0.007000	0.05969	-0.009000	0.12765	2.116000	0.64780	0.533000	0.62120	GTA		0.537	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		75	320	0	0	0	1	0	75	320				
DNAH10	196385	broad.mit.edu	37	12	124320029	124320029	+	Missense_Mutation	SNP	C	C	T	rs375189808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124320029C>T	ENST00000409039.3	+	27	4527	c.4502C>T	c.(4501-4503)cCg>cTg	p.P1501L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1501	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCACAACTTCCGGAAGAGGCA	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		20574	0.0		0.0	False		,,,				2504	0.001					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4501-4503)cCg>cTg		dynein, axonemal, heavy chain 10		C	LEU/PRO	1,3689		0,1,1844	92.0	84.0	86.0		4502	6.0	0.7	12		86	1,8179		0,1,4089	no	missense	DNAH10	NM_207437.3	98	0,2,5933	TT,TC,CC		0.0122,0.0271,0.0168	probably-damaging	1501/4472	124320029	2,11868	1845	4090	5935	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124320029C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4502C>T	12.37:g.124320029C>T	ENSP00000386770:p.Pro1501Leu						p.P1501L	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	27	4527	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1501			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4502C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914796	0.72983	2.71E-4	1.22E-4	ENSG00000197653	ENST00000409039	T	0.66280	-0.2	6.02	6.02	0.97574	Dynein heavy chain, domain-2 (1);	0.077772	0.52532	U	0.000069	D	0.89223	0.6654	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92902	0.6340	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1501	Q8IVF4	DYH10_HUMAN	L	1501	ENSP00000386770:P1501L	ENSP00000386770:P1501L	P	+	2	0	DNAH10	122885982	1.000000	0.71417	0.745000	0.31077	0.114000	0.19823	5.784000	0.68990	2.857000	0.98124	0.650000	0.86243	CCG		0.348	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			18	79	0	0	0	1	0	18	79				
SMARCD3	6604	broad.mit.edu	37	7	150936233	150936233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150936233G>A	ENST00000262188.8	-	13	1818	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R457C|SMARCD3_ENST00000477169.1_5'Flank|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C|MIR671_ENST00000390183.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	470					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGCCTGCGCTGCTGGATC	0.572																																						ENST00000392811.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(1369-1371)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							111.0	109.0	109.0					7																	150936233		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150936233G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1408C>T	7.37:g.150936233G>A	ENSP00000262188:p.Arg470Cys					SMARCD3_ENST00000262188.8_Missense_Mutation_p.R470C|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C	p.R457C	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	1843	-			470					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.1369C>T	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726761	0.48833	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.50548	0.74;0.77;0.77	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.76071	0.556;0.987	T	0.75230	-0.3391	10	0.87932	D	0	-9.877	15.7995	0.78443	0.0:0.0:1.0:0.0	.	457;470	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	C	470;457;457;422	ENSP00000262188:R470C;ENSP00000376558:R457C;ENSP00000349254:R457C	ENSP00000262188:R470C	R	-	1	0	SMARCD3	150567166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.928000	0.28831	2.401000	0.81631	0.655000	0.94253	CGC		0.572	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		112	510	0	0	0	1	0	112	510				
ZNF318	24149	broad.mit.edu	37	6	43305331	43305331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305331C>T	ENST00000361428.2	-	10	6482	c.6405G>A	c.(6403-6405)atG>atA	p.M2135I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2135					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCCTCAGGCATCATTCCTC	0.458																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6403-6405)atG>atA		zinc finger protein 318							60.0	57.0	58.0					6																	43305331		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305331C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6405G>A	6.37:g.43305331C>T	ENSP00000354964:p.Met2135Ile					ZNF318_ENST00000318149.3_Intron	p.M2135I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6482	-			2135					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6405G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379689	0.42207	.	.	ENSG00000171467	ENST00000361428	T	0.11063	2.81	6.08	5.2	0.72013	.	0.178249	0.40385	N	0.001120	T	0.03220	0.0094	L	0.27053	0.805	0.80722	D	1	B	0.24920	0.114	B	0.21708	0.036	T	0.27971	-1.0058	10	0.48119	T	0.1	-7.5726	6.961	0.24597	0.0:0.826:0.0:0.174	.	2135	Q5VUA4	ZN318_HUMAN	I	2135	ENSP00000354964:M2135I	ENSP00000354964:M2135I	M	-	3	0	ZNF318	43413309	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.650000	0.24858	2.894000	0.99253	0.655000	0.94253	ATG		0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		34	181	0	0	0	1	0	34	181				
CASQ1	844	broad.mit.edu	37	1	160160767	160160767	+	Missense_Mutation	SNP	G	G	A	rs79469730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160160767G>A	ENST00000368078.3	+	1	422	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CASQ1_ENST00000368079.3_Missense_Mutation_p.E70K			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	76					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAACCCCCCGAGGATGACAA	0.522													G|||	7	0.00139776	0.0038	0.0	5008	,	,		21258	0.0		0.002	False		,,,				2504	0.0					ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(208-210)Gag>Aag		calsequestrin 1 (fast-twitch, skeletal muscle)		G	LYS/GLU	11,4395	17.9+/-39.9	0,11,2192	97.0	92.0	94.0		226	4.2	1.0	1	dbSNP_133	94	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CASQ1	NM_001231.4	56	0,14,6489	AA,AG,GG		0.0349,0.2497,0.1076	possibly-damaging	76/397	160160767	14,12992	2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160160767G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.226G>A	1.37:g.160160767G>A	ENSP00000357057:p.Glu76Lys					CASQ1_ENST00000368078.3_Missense_Mutation_p.E76K	p.E70K	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	483	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		76					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.208G>A	CCDS1198.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.66	1.412613	0.25465	0.002497	3.49E-4	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.37915	1.17;1.17	4.21	4.21	0.49690	Thioredoxin-like fold (2);	0.128784	0.51477	D	0.000095	T	0.11153	0.0272	L	0.38838	1.175	0.36259	D	0.854407	B	0.29936	0.262	B	0.19148	0.024	T	0.03910	-1.0993	10	0.06494	T	0.89	.	15.5765	0.76392	0.0:0.0:1.0:0.0	.	76	P31415	CASQ1_HUMAN	K	70;76	ENSP00000357058:E70K;ENSP00000357057:E76K	ENSP00000357057:E76K	E	+	1	0	CASQ1	158427391	0.013000	0.17824	1.000000	0.80357	0.994000	0.84299	1.134000	0.31442	2.202000	0.70862	0.449000	0.29647	GAG		0.522	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		67	187	0	0	0	1	0	67	187				
RPGRIP1L	23322	broad.mit.edu	37	16	53686654	53686654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53686654G>A	ENST00000379925.3	-	15	1995	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000262135.4_Nonsense_Mutation_p.R649*	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	649	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R649*(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGAAGGCCTCGCACTACGGGA	0.373																																						ENST00000262135.4																			1	Substitution - Nonsense(1)	p.R649*(1)	endometrium(1)	endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(1945-1947)Cga>Tga		RPGRIP1-like							107.0	107.0	107.0					16																	53686654		2198	4300	6498	SO:0001587	stop_gained	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53686654G>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1945C>T	16.37:g.53686654G>A	ENSP00000369257:p.Arg649*					RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.R649*	p.R649*	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			15	2038	-		all_cancers(37;0.0973)	649			C2 1.		A0PJ88|Q9Y2K8	Nonsense_Mutation	SNP	ENST00000379925.3	37	c.1945C>T	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623483	0.96660	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.45	3.08	0.35506	.	1.118250	0.06586	N	0.751119	.	.	.	.	.	.	0.34598	D	0.716193	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9957	10.9132	0.47120	0.0793:0.0:0.7882:0.1325	.	.	.	.	X	649	.	ENSP00000262135:R649X	R	-	1	2	RPGRIP1L	52244155	0.017000	0.18338	0.838000	0.33150	0.818000	0.46254	1.447000	0.35101	1.244000	0.43870	0.563000	0.77884	CGA		0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		74	280	0	0	0	1	0	74	280				
LAMA5	3911	broad.mit.edu	37	20	60926993	60926993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60926993G>A	ENST00000252999.3	-	5	896	c.830C>T	c.(829-831)gCg>gTg	p.A277V	RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V|LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000477848.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	277	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTCCCGCAGCGCCTTCCCCAT	0.697																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(829-831)gCg>gTg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						43.0	33.0	36.0					20																	60926993		2200	4289	6489	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60926993G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.830C>T	20.37:g.60926993G>A	ENSP00000252999:p.Ala277Val					LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V|LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V	p.A277V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		5	896	-	Breast(26;1.57e-08)		277			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.830C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	34	5.382019	0.95967	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.36878	2.08;1.23;1.33	4.24	4.24	0.50183	Laminin, N-terminal (3);	0.117957	0.56097	U	0.000021	T	0.49115	0.1538	L	0.35341	1.055	0.54753	D	0.999988	D	0.89917	1.0	D	0.71414	0.973	T	0.54899	-0.8224	10	0.72032	D	0.01	.	16.6321	0.85036	0.0:0.0:1.0:0.0	.	277	O15230	LAMA5_HUMAN	V	277	ENSP00000252999:A277V;ENSP00000359726:A277V;ENSP00000359711:A277V	ENSP00000252999:A277V	A	-	2	0	LAMA5	60360388	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.737000	0.98831	1.915000	0.55452	0.486000	0.48141	GCG		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		25	91	0	0	0	1	0	25	91				
ALAS1	211	broad.mit.edu	37	3	52239987	52239987	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52239987G>A	ENST00000394965.2	+	7	1293	c.933G>A	c.(931-933)tcG>tcA	p.S311S	ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S|ALAS1_ENST00000469224.1_Silent_p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	311					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.S311S(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGTTTTCCTCGTGCTTTGTGG	0.483																																						ENST00000394965.2																			1	Substitution - coding silent(1)	p.S311S(1)	ovary(1)	endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(931-933)tcG>tcA		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						166.0	157.0	160.0					3																	52239987		2203	4300	6503	SO:0001819	synonymous_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52239987G>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.933G>A	3.37:g.52239987G>A						ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S|ALAS1_ENST00000469224.1_Silent_p.S311S	p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	7	1293	+			311						Silent	SNP	ENST00000394965.2	37	c.933G>A	CCDS2847.1																																																																																				0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			107	324	0	0	0	1	0	107	324				
MCF2L	23263	broad.mit.edu	37	13	113740496	113740496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113740496G>T	ENST00000375608.3	+	22	2454	c.2396G>T	c.(2395-2397)aGc>aTc	p.S799I	MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I|MCF2L_ENST00000397030.1_Missense_Mutation_p.S802I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	799	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAGGCGCTGAGCTCCATCCTG	0.632																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2404-2406)aGc>aTc		MCF.2 cell line derived transforming sequence-like							82.0	66.0	71.0					13																	113740496		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113740496G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2396G>T	13.37:g.113740496G>T	ENSP00000364758:p.Ser799Ile					MCF2L_ENST00000375608.3_Missense_Mutation_p.S799I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I	p.S802I			O15068	MCF2L_HUMAN			21	2442	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	799			DH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2405G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.986538|1.986538	0.35036|0.35036	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.64260	.|-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.67|4.67	3.8|3.8	0.43715|0.43715	.|Dbl homology (DH) domain (5);	.|0.220796	.|0.45361	.|D	.|0.000373	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.31294|0.31294	0.92|0.92	0.37373|0.37373	D|D	0.911736|0.911736	.|D;P;D;D;P;D	.|0.63046	.|0.972;0.933;0.992;0.985;0.817;0.978	.|B;B;P;P;B;P	.|0.54629	.|0.426;0.426;0.644;0.757;0.426;0.679	T|T	0.61855|0.61855	-0.6977|-0.6977	5|10	.|0.45353	.|T	.|0.12	.|.	7.5177|7.5177	0.27610|0.27610	0.1088:0.4278:0.4634:0.0|0.1088:0.4278:0.4634:0.0	.|.	.|767;769;826;731;767;799	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	D|I	429|799;799;826;802;769;773;773;775;767;767;610	.|ENSP00000364758:S799I;ENSP00000401422:S799I;ENSP00000364754:S826I;ENSP00000380225:S802I;ENSP00000440374:S769I;ENSP00000397285:S773I;ENSP00000364751:S773I;ENSP00000407722:S775I;ENSP00000405639:S767I;ENSP00000364747:S767I	.|ENSP00000364747:S767I	E|S	+|+	3|2	2|0	MCF2L|MCF2L	112788497|112788497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.240000|0.240000	0.25518|0.25518	4.451000|4.451000	0.60047|0.60047	2.157000|2.157000	0.67596|0.67596	0.196000|0.196000	0.17591|0.17591	GAG|AGC		0.632	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			49	184	1	0	4.64027e-19	1	5.16652e-19	49	184				
MCM10	55388	broad.mit.edu	37	10	13246275	13246275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13246275C>A	ENST00000484800.2	+	18	2515	c.2412C>A	c.(2410-2412)taC>taA	p.Y804*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.Y803*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	804					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCATGAATACCACTGGCATG	0.512																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(2407-2409)taC>taA		minichromosome maintenance complex component 10							130.0	111.0	117.0					10																	13246275		2203	4300	6503	SO:0001587	stop_gained	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13246275C>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2412C>A	10.37:g.13246275C>A	ENSP00000418268:p.Tyr804*					MCM10_ENST00000484800.2_Nonsense_Mutation_p.Y804*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*	p.Y803*			Q7L590	MCM10_HUMAN			17	2484	+			804					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	ENST00000484800.2	37	c.2409C>A	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999927	0.93227	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.42	2.55	0.30701	.	0.488980	0.23155	N	0.051314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.5109	7.6026	0.28085	0.1349:0.7218:0.0:0.1433	.	.	.	.	X	803;804;804;803	.	ENSP00000354945:Y804X	Y	+	3	2	MCM10	13286281	0.985000	0.35326	0.937000	0.37676	0.037000	0.13140	0.472000	0.22116	0.661000	0.30985	-0.169000	0.13324	TAC		0.512	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		65	231	1	0	1.20869e-33	1	1.43362e-33	65	231				
TAAR6	319100	broad.mit.edu	37	6	132892109	132892109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132892109T>C	ENST00000275198.1	+	1	649	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	217					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GATAATTCTGTATGGTAACAT	0.383																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(649-651)Tat>Cat		trace amine associated receptor 6							73.0	74.0	74.0					6																	132892109		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132892109T>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.649T>C	6.37:g.132892109T>C	ENSP00000275198:p.Tyr217His						p.Y217H	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	649	+	Breast(56;0.112)		217					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.649T>C	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650421	0.47362	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.60424	0.19	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.78310	0.4263	H	0.94582	3.555	0.42362	D	0.992412	D	0.53151	0.958	D	0.65987	0.94	D	0.85036	0.0920	10	0.87932	D	0	-12.3275	15.0602	0.71947	0.0:0.0:0.0:1.0	.	217	Q96RI8	TAAR6_HUMAN	H	217;200	ENSP00000275198:Y217H	ENSP00000275198:Y217H	Y	+	1	0	TAAR6	132933802	1.000000	0.71417	0.015000	0.15790	0.228000	0.25075	4.912000	0.63335	2.132000	0.65825	0.528000	0.53228	TAT		0.383	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		63	252	0	0	0	1	0	63	252				
SRSF11	9295	broad.mit.edu	37	1	70710389	70710389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70710389C>T	ENST00000370950.3	+	9	905	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SRSF11_ENST00000370949.1_Missense_Mutation_p.R215W|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Missense_Mutation_p.R275W|SRSF11_ENST00000370951.1_Missense_Mutation_p.R275W			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	275	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R275W(1)		large_intestine(3)|ovary(2)|skin(1)	6						CAGATCGAGACGGCGGTCACA	0.428																																						ENST00000370950.3																			1	Substitution - Missense(1)	p.R275W(1)	endometrium(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(823-825)Cgg>Tgg		serine/arginine-rich splicing factor 11							80.0	78.0	79.0					1																	70710389		2203	4300	6503	SO:0001583	missense	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70710389C>T	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.823C>T	1.37:g.70710389C>T	ENSP00000359988:p.Arg275Trp					SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370951.1_Missense_Mutation_p.R275W|SRSF11_ENST00000370949.1_Missense_Mutation_p.R215W|SRSF11_ENST00000405432.1_Missense_Mutation_p.R275W	p.R275W			Q05519	SRS11_HUMAN			9	905	+			275			10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.		Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	c.823C>T	CCDS647.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899721	0.52227	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T;T	0.84370	-1.84;-1.84;-1.84;2.5;-0.68	5.53	4.41	0.53225	.	0.190975	0.53938	D	0.000051	D	0.89667	0.6781	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.993;0.993;0.99	D	0.90884	0.4756	10	0.72032	D	0.01	.	12.848	0.57842	0.8578:0.1422:0.0:0.0	.	215;275;275;275	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	W	275;275;275;275;215	ENSP00000359989:R275W;ENSP00000359988:R275W;ENSP00000384357:R275W;ENSP00000378568:R275W;ENSP00000359987:R215W	ENSP00000359987:R215W	R	+	1	2	SRSF11	70482977	1.000000	0.71417	0.920000	0.36463	0.728000	0.41692	5.367000	0.66127	1.045000	0.40225	-0.410000	0.06199	CGG		0.428	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		39	299	0	0	0	1	0	39	299				
CXXC1	30827	broad.mit.edu	37	18	47811382	47811382	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47811382T>A	ENST00000285106.6	-	7	1616	c.902A>T	c.(901-903)gAc>gTc	p.D301V	CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	301	Asp/Glu-rich (acidic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGGCCATGGTCATCAAAGGC	0.557																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(901-903)gAc>gTc		CXXC finger protein 1							75.0	80.0	79.0					18																	47811382		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47811382T>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.902A>T	18.37:g.47811382T>A	ENSP00000285106:p.Asp301Val					CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V|CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V	p.D301V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			7	1616	-			301			Asp/Glu-rich (acidic).		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.902A>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900308	0.52227	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.27256	1.68;1.68	4.28	4.28	0.50868	.	0.249082	0.37715	N	0.001980	T	0.39462	0.1079	L	0.46157	1.445	0.80722	D	1	P;D;P;P	0.71674	0.808;0.998;0.808;0.808	B;D;B;B	0.63703	0.283;0.917;0.283;0.17	T	0.18650	-1.0330	10	0.56958	D	0.05	-8.5836	11.6576	0.51328	0.0:0.0:0.0:1.0	.	301;301;301;168	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	V	301	ENSP00000285106:D301V;ENSP00000390475:D301V	ENSP00000285106:D301V	D	-	2	0	CXXC1	46065380	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.789000	0.62446	1.718000	0.51419	0.443000	0.29094	GAC		0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		78	290	0	0	0	1	0	78	290				
OGFRL1	79627	broad.mit.edu	37	6	72011229	72011229	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72011229G>T	ENST00000370435.4	+	7	967	c.833G>T	c.(832-834)aGt>aTt	p.S278I	RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000585882.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	278						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATTAAGCAGAGTGCTCTAGAG	0.383																																						ENST00000370435.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						c.(832-834)aGt>aTt		opioid growth factor receptor-like 1							75.0	85.0	82.0					6																	72011229		2203	4300	6503	SO:0001583	missense	79627					membrane	receptor activity	g.chr6:72011229G>T		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.833G>T	6.37:g.72011229G>T	ENSP00000359464:p.Ser278Ile					RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA	p.S278I	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN			7	967	+			278					Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	c.833G>T	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463810	0.84425	.	.	ENSG00000119900	ENST00000370435	T	0.55234	0.53	6.04	6.04	0.98038	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73161	-0.4070	10	0.87932	D	0	-26.5249	20.5948	0.99439	0.0:0.0:1.0:0.0	.	278	Q5TC84	OGRL1_HUMAN	I	278	ENSP00000359464:S278I	ENSP00000359464:S278I	S	+	2	0	OGFRL1	72067950	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	AGT		0.383	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		139	609	1	0	1.8369e-69	1	2.33114e-69	139	609				
ARSF	416	broad.mit.edu	37	X	3030396	3030396	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3030396G>A	ENST00000381127.1	+	11	1793	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	ARSF_ENST00000359361.2_Silent_p.E524E|ARSF_ENST00000537104.1_Silent_p.E524E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	524					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCCACAGAGCCCCTCCATG	0.542																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(1570-1572)gaG>gaA		arylsulfatase F							91.0	81.0	84.0					X																	3030396		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3030396G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1572G>A	X.37:g.3030396G>A						ARSF_ENST00000359361.2_Silent_p.E524E|ARSF_ENST00000537104.1_Silent_p.E524E	p.E524E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			11	1793	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	524					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.1572G>A	CCDS14123.1																																																																																				0.542	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			31	493	0	0	0	1	0	31	493				
HSF2BP	11077	broad.mit.edu	37	21	45064180	45064180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064180C>T	ENST00000291560.2	-	4	612	c.281G>A	c.(280-282)aGa>aAa	p.R94K	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	94					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTTCTTCTCTCTTATGTTGTC	0.483																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(280-282)aGa>aAa		heat shock transcription factor 2 binding protein							153.0	123.0	133.0					21																	45064180		2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:45064180C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.281G>A	21.37:g.45064180C>T	ENSP00000291560:p.Arg94Lys					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	p.R94K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	4	612	-			94					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.281G>A	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	2.675	-0.276662	0.05679	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	1.14	0.20703	.	0.443449	0.26832	N	0.022271	T	0.24851	0.0603	L	0.28740	0.885	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.23261	-1.0193	9	0.10377	T	0.69	-22.739	9.5457	0.39279	0.0:0.5966:0.0:0.4034	.	94	O75031	HSF2B_HUMAN	K	94;19;94	.	ENSP00000291560:R94K	R	-	2	0	HSF2BP	43888608	0.015000	0.18098	0.019000	0.16419	0.119000	0.20118	0.153000	0.16323	0.298000	0.22638	0.655000	0.94253	AGA		0.483	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		28	313	0	0	0	1	0	28	313				
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P					peptidylprolyl isomerase (cyclophilin)-like 2									p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547																																						ENST00000406385.1																			1	Substitution - coding silent(1)	p.P193P(1)	ovary(1)	endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(577-579)ccG>ccA		peptidylprolyl isomerase (cyclophilin)-like 2							39.0	39.0	39.0					22																	22039067		2203	4300	6503	SO:0001819	synonymous_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22039067G>A		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.579G>A	22.37:g.22039067G>A						PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000335025.7_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000412327.1_Silent_p.P193P	p.P193P			Q13356	PPIL2_HUMAN			10	639	+	Colorectal(54;0.105)		193						Silent	SNP	ENST00000335025.8	37	c.579G>A	CCDS13793.1																																																																																				0.547	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			34	197	0	0	0	1	0	34	197				
P4HA1	5033	broad.mit.edu	37	10	74806855	74806855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74806855G>A	ENST00000307116.2	-	8	1021	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000412021.2_Missense_Mutation_p.P302L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	302					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTCTCCGAGGGGTCTAAAC	0.353																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(904-906)cCt>cTt		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						64.0	64.0	64.0					10																	74806855		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74806855G>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.905C>T	10.37:g.74806855G>A	ENSP00000307318:p.Pro302Leu					P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P302L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L	p.P302L	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			9	1238	-	Prostate(51;0.0198)		302					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.905C>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.137993	0.77775	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.49139	0.81;0.82;0.81;0.81;0.82;0.79	5.94	5.94	0.96194	.	0.097977	0.64402	D	0.000001	T	0.58163	0.2103	M	0.81341	2.54	0.80722	D	1	B;P;P	0.40660	0.002;0.726;0.726	B;B;B	0.40864	0.014;0.342;0.236	T	0.63093	-0.6714	10	0.59425	D	0.04	-13.1687	20.369	0.98888	0.0:0.0:1.0:0.0	.	302;302;302	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	L	302	ENSP00000307318:P302L;ENSP00000362099:P302L;ENSP00000411688:P302L;ENSP00000378353:P302L;ENSP00000263556:P302L;ENSP00000414464:P302L	ENSP00000263556:P302L	P	-	2	0	P4HA1	74476861	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.607000	0.82883	2.819000	0.97034	0.650000	0.86243	CCT		0.353	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		53	237	0	0	0	1	0	53	237				
WDR47	22911	broad.mit.edu	37	1	109533934	109533934	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109533934A>G	ENST00000369962.3	-	9	1931	c.1709T>C	c.(1708-1710)gTc>gCc	p.V570A	WDR47_ENST00000400794.3_Missense_Mutation_p.V578A|WDR47_ENST00000357672.3_Missense_Mutation_p.V542A|WDR47_ENST00000369965.4_Missense_Mutation_p.V571A|WDR47_ENST00000361054.3_Missense_Mutation_p.V542A			O94967	WDR47_HUMAN	WD repeat domain 47	570					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGGCTTAATGACCGAATGTTC	0.368																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1624-1626)gTc>gCc		WD repeat domain 47							101.0	112.0	108.0					1																	109533934		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109533934A>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1709T>C	1.37:g.109533934A>G	ENSP00000358979:p.Val570Ala					WDR47_ENST00000369962.3_Missense_Mutation_p.V570A|WDR47_ENST00000369965.4_Missense_Mutation_p.V571A|WDR47_ENST00000361054.3_Missense_Mutation_p.V542A|WDR47_ENST00000400794.3_Missense_Mutation_p.V578A	p.V542A			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	8	2000	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	570					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1625T>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145171	0.37825	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.51;0.55;0.5;0.5;0.5	5.23	5.23	0.72850	.	0.481828	0.20274	N	0.095616	T	0.16514	0.0397	N	0.17082	0.46	0.35252	D	0.778798	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.04509	-1.0946	10	0.08381	T	0.77	-2.5593	12.8407	0.57800	1.0:0.0:0.0:0.0	.	542;578;570;571	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	A	578;570;542;571;542	ENSP00000383599:V578A;ENSP00000358979:V570A;ENSP00000354339:V542A;ENSP00000358982:V571A;ENSP00000350301:V542A	ENSP00000350301:V542A	V	-	2	0	WDR47	109335457	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	2.616000	0.46376	2.113000	0.64589	0.524000	0.50904	GTC		0.368	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		30	316	0	0	0	1	0	30	316				
PTPN3	5774	broad.mit.edu	37	9	112166806	112166806	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112166806C>A	ENST00000374541.2	-	19	1979	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E471D|PTPN3_ENST00000412145.1_Missense_Mutation_p.E494D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	625					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTCCCCACCCTCCGGACACA	0.532																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1480-1482)gaG>gaT		protein tyrosine phosphatase, non-receptor type 3							114.0	103.0	107.0					9																	112166806		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112166806C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1875G>T	9.37:g.112166806C>A	ENSP00000363667:p.Glu625Asp					PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E471D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D|PTPN3_ENST00000374541.2_Missense_Mutation_p.E625D	p.E494D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			14	4035	-			625					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1482G>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953877	0.34471	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.71817	-0.46;-0.45;-0.6;3.93;-0.39	5.63	5.63	0.86233	.	0.339106	0.34411	N	0.003999	T	0.54854	0.1884	L	0.38175	1.15	0.37573	D	0.919522	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.51880	-0.8649	10	0.12103	T	0.63	.	7.6876	0.28548	0.0:0.8061:0.0:0.1939	.	471;580;625	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	D	625;494;449;625;93;471	ENSP00000416654:E494D;ENSP00000395384:E449D;ENSP00000363667:E625D;ENSP00000378304:E93D;ENSP00000262539:E471D	ENSP00000262539:E471D	E	-	3	2	PTPN3	111206627	0.887000	0.30362	1.000000	0.80357	0.940000	0.58332	0.688000	0.25422	2.815000	0.96918	0.561000	0.74099	GAG		0.532	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			7	355	1	0	1.06961e-07	1	1.11297e-07	7	355				
CHP2	63928	broad.mit.edu	37	16	23767434	23767434	+	Missense_Mutation	SNP	G	G	A	rs190915905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23767434G>A	ENST00000300113.2	+	4	695	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTCATTTTCGCCCTGTAGAA	0.527													G|||	8	0.00159744	0.0	0.0	5008	,	,		18726	0.0079		0.0	False		,,,				2504	0.0					ENST00000300113.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(271-273)cGc>cAc		calcineurin-like EF-hand protein 2							85.0	82.0	83.0					16																	23767434		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23767434G>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.272G>A	16.37:g.23767434G>A	ENSP00000300113:p.Arg91His						p.R91H	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	4	695	+			91			EF-hand 2.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.272G>A	CCDS10617.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	16.47	3.133391	0.56828	.	.	ENSG00000166869	ENST00000300113	T	0.30182	1.54	4.48	3.51	0.40186	EF-hand-like domain (1);	0.081158	0.48767	D	0.000165	T	0.40595	0.1123	M	0.77103	2.36	0.50171	D	0.999855	D	0.76494	0.999	P	0.57425	0.82	T	0.49293	-0.8955	10	0.48119	T	0.1	-4.8275	12.4389	0.55614	0.0:0.1709:0.8291:0.0	.	91	O43745	CHP2_HUMAN	H	91	ENSP00000300113:R91H	ENSP00000300113:R91H	R	+	2	0	AC130454.2	23674935	1.000000	0.71417	0.727000	0.30756	0.196000	0.23810	8.491000	0.90468	1.223000	0.43536	0.591000	0.81541	CGC		0.527	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		57	236	0	0	0	1	0	57	236				
ARL4D	379	broad.mit.edu	37	17	41477547	41477547	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477547G>T	ENST00000320033.4	+	2	654	c.447G>T	c.(445-447)gaG>gaT	p.E149D		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	149					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGAGGTGGAGAAGAGGCTGG	0.672																																						ENST00000320033.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(445-447)gaG>gaT		ADP-ribosylation factor-like 4D							15.0	16.0	16.0					17																	41477547		2198	4295	6493	SO:0001583	missense	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477547G>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.447G>T	17.37:g.41477547G>T	ENSP00000322628:p.Glu149Asp						p.E149D	NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	654	+		Breast(137;0.00908)	149					B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	37	c.447G>T	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971464	0.74246	.	.	ENSG00000175906	ENST00000320033	T	0.64085	-0.08	4.82	2.84	0.33178	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.78285	2.405	0.49299	D	0.999775	D	0.69078	0.997	D	0.72338	0.977	T	0.74244	-0.3728	10	0.72032	D	0.01	-7.8562	7.6798	0.28507	0.2572:0.0:0.7428:0.0	.	149	P49703	ARL4D_HUMAN	D	149	ENSP00000322628:E149D	ENSP00000322628:E149D	E	+	3	2	ARL4D	38833073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.576000	0.67437	0.638000	0.30545	0.462000	0.41574	GAG		0.672	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		24	74	1	0	2.21704e-12	1	2.37967e-12	24	74				
DMGDH	29958	broad.mit.edu	37	5	78338189	78338189	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78338189A>T	ENST00000255189.3	-	7	1138	c.1110T>A	c.(1108-1110)ggT>ggA	p.G370G	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.G169G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	370					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACGTGATAGGACCATTGACAA	0.453																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1108-1110)ggT>ggA		dimethylglycine dehydrogenase							122.0	111.0	114.0					5																	78338189		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78338189A>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1110T>A	5.37:g.78338189A>T						DMGDH_ENST00000380311.4_Silent_p.G169G|DMGDH_ENST00000540686.1_Intron	p.G370G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	7	1138	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	370					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.1110T>A	CCDS4044.1																																																																																				0.453	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		60	293	0	0	0	1	0	60	293				
LRFN2	57497	broad.mit.edu	37	6	40400136	40400136	+	Missense_Mutation	SNP	A	A	T	rs140321591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40400136A>T	ENST00000338305.6	-	2	1259	c.717T>A	c.(715-717)ttT>ttA	p.F239L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	239						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTTACCCCCAAAACTAAAGG	0.607																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(715-717)ttT>ttA		leucine rich repeat and fibronectin type III domain containing 2							32.0	37.0	35.0					6																	40400136		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400136A>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.717T>A	6.37:g.40400136A>T	ENSP00000345985:p.Phe239Leu						p.F239L	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	1259	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		239					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.717T>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296729	0.40594	.	.	ENSG00000156564	ENST00000338305	T	0.01240	5.12	5.42	-6.7	0.01766	.	0.095815	0.64402	D	0.000001	T	0.00328	0.0010	N	0.10707	0.03	0.49915	D	0.999831	B	0.24317	0.101	B	0.27715	0.082	T	0.38887	-0.9640	10	0.14656	T	0.56	.	14.7045	0.69179	0.4575:0.0:0.5424:0.0	.	239	Q9ULH4	LRFN2_HUMAN	L	239	ENSP00000345985:F239L	ENSP00000345985:F239L	F	-	3	2	LRFN2	40508114	0.069000	0.21087	0.885000	0.34714	0.784000	0.44337	-0.274000	0.08537	-1.326000	0.02266	-0.371000	0.07208	TTT		0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		58	234	0	0	0	1	0	58	234				
LRP1B	53353	broad.mit.edu	37	2	141607868	141607868	+	Missense_Mutation	SNP	C	C	T	rs148341635	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141607868C>T	ENST00000389484.3	-	29	5713	c.4742G>A	c.(4741-4743)cGt>cAt	p.R1581H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1581					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATTTCAGAACGTCTTGCATA	0.318										TSP Lung(27;0.18)			C|||	11	0.00219649	0.0083	0.0	5008	,	,		16035	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4741-4743)cGt>cAt		low density lipoprotein receptor-related protein 1B		C	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	83.0	75.0	78.0		4742	2.7	0.9	2	dbSNP_134	78	0,8600		0,0,4300	yes	missense	LRP1B	NM_018557.2	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging	1581/4600	141607868	8,12998	2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607868C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4742G>A	2.37:g.141607868C>T	ENSP00000374135:p.Arg1581His	TSP Lung(27;0.18)					p.R1581H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	29	5713	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1581					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4742G>A	CCDS2182.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	14.46	2.542902	0.45280	0.001816	0.0	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91631	-2.88;1.47	5.54	2.73	0.32206	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.88388	0.6423	L	0.56199	1.76	0.42541	D	0.993077	D;B	0.69078	0.997;0.001	D;B	0.64595	0.927;0.001	D	0.88028	0.2773	10	0.62326	D	0.03	.	8.6756	0.34176	0.0:0.6986:0.0:0.3014	.	764;1581	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1581;1519;726	ENSP00000374135:R1581H;ENSP00000413239:R726H	ENSP00000374135:R1581H	R	-	2	0	LRP1B	141324338	0.059000	0.20769	0.942000	0.38095	0.710000	0.40934	0.493000	0.22451	0.283000	0.22279	-0.657000	0.03884	CGT		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	171	0	0	0	1	0	16	171				
SRR	63826	broad.mit.edu	37	17	2227000	2227000	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2227000G>A	ENST00000344595.5	+	8	1174	c.856G>A	c.(856-858)Gct>Act	p.A286T	SRR_ENST00000576848.1_Missense_Mutation_p.A60T|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	286					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	TGAACCTACAGCTGGTGTTGG	0.453																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(856-858)Gct>Act		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						122.0	105.0	111.0					17																	2227000		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2227000G>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.856G>A	17.37:g.2227000G>A	ENSP00000339435:p.Ala286Thr					SRR_ENST00000576848.1_3'UTR|TSR1_ENST00000301364.4_3'UTR	p.A286T	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	8	1174	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	286					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.856G>A	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181429	0.78677	.	.	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.52	5.52	0.82312	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.052350	0.85682	D	0.000000	D	0.97885	0.9305	M	0.77486	2.375	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.98579	1.0649	10	0.87932	D	0	-3.5344	18.4444	0.90678	0.0:0.0:1.0:0.0	.	286	Q9GZT4	SRR_HUMAN	T	286	ENSP00000339435:A286T	ENSP00000339435:A286T	A	+	1	0	SRR	2173750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.267000	0.72546	2.602000	0.87976	0.557000	0.71058	GCT		0.453	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		44	198	0	0	0	1	0	44	198				
HLX	3142	broad.mit.edu	37	1	221057562	221057562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221057562G>A	ENST00000366903.6	+	4	2484	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	328					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAGAACCGGCGGATGAAGTGG	0.637																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(982-984)cGg>cAg		H2.0-like homeobox							38.0	43.0	41.0					1																	221057562		2203	4296	6499	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057562G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.983G>A	1.37:g.221057562G>A	ENSP00000355870:p.Arg328Gln					HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	p.R328Q	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2484	+			328					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.983G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825551	0.96996	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.99298	-5.48;-5.71;-5.48	4.9	4.9	0.64082	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.111005	0.36374	N	0.002634	D	0.99641	0.9868	H	0.97103	3.94	0.52099	D	0.999946	D	0.89917	1.0	D	0.97110	1.0	D	0.97532	1.0080	10	0.87932	D	0	-26.9734	17.218	0.86949	0.0:0.0:1.0:0.0	.	328	Q14774	HLX_HUMAN	Q	328;61;114	ENSP00000355870:R328Q;ENSP00000408248:R61Q;ENSP00000449882:R114Q	ENSP00000355870:R328Q	R	+	2	0	HLX	219124185	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.358000	0.97109	2.443000	0.82685	0.561000	0.74099	CGG		0.637	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		68	197	0	0	0	1	0	68	197				
APOB	338	broad.mit.edu	37	2	21224719	21224719	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21224719A>C	ENST00000233242.1	-	29	13702	c.13575T>G	c.(13573-13575)atT>atG	p.I4525M	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4525					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAGTTTTGAATGGACAGGT	0.378																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(13573-13575)atT>atG		apolipoprotein B	Atorvastatin(DB01076)						142.0	146.0	145.0					2																	21224719		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21224719A>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13575T>G	2.37:g.21224719A>C	ENSP00000233242:p.Ile4525Met						p.I4525M	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	13702	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4525					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.13575T>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384456	0.61845	.	.	ENSG00000084674	ENST00000233242	T	0.37058	1.22	5.68	2.93	0.34026	.	0.218872	0.31884	N	0.006919	T	0.28797	0.0714	L	0.60455	1.87	0.80722	D	1	P	0.44429	0.835	B	0.40864	0.342	T	0.18241	-1.0343	10	0.72032	D	0.01	.	1.1843	0.01852	0.5206:0.1313:0.1521:0.1959	.	4525	P04114	APOB_HUMAN	M	4525	ENSP00000233242:I4525M	ENSP00000233242:I4525M	I	-	3	3	APOB	21078224	0.994000	0.37717	1.000000	0.80357	0.938000	0.57974	0.387000	0.20718	0.957000	0.37930	0.482000	0.46254	ATT		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			27	806	0	0	0	1	0	27	806				
DGKD	8527	broad.mit.edu	37	2	234343475	234343475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234343475G>A	ENST00000264057.2	+	5	526	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	172					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGTTCCCACGCGAGGCCGAC	0.562																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(514-516)Gcg>Acg		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						190.0	165.0	174.0					2																	234343475		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234343475G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.514G>A	2.37:g.234343475G>A	ENSP00000264057:p.Ala172Thr					DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	p.A172T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	5	526	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	172					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.514G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017608	0.93404	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	D;D;T;D	0.92805	-3.11;-3.11;1.52;-3.11	4.92	4.92	0.64577	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.075139	0.53938	D	0.000043	D	0.92215	0.7531	N	0.12961	0.28	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.878	D;D;D;B	0.83275	0.969;0.989;0.996;0.288	D	0.92313	0.5859	10	0.39692	T	0.17	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	56;108;128;172	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	T	172;108;142;128	ENSP00000264057:A172T;ENSP00000407938:A108T;ENSP00000395530:A142T;ENSP00000386455:A128T	ENSP00000264057:A172T	A	+	1	0	DGKD	234008214	1.000000	0.71417	0.915000	0.36163	0.909000	0.53808	9.125000	0.94402	2.724000	0.93272	0.563000	0.77884	GCG		0.562	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		227	619	0	0	0	1	0	227	619				
MALAT1	378938	broad.mit.edu	37	11	65268953	65268953	+	lincRNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65268953A>G	ENST00000534336.1	+	0	3721					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGACTTTAAAAGTGCTTAACC	0.413																																						ENST00000534336.1																			0																				20.0	21.0	21.0					11																	65268953		874	1988	2862			0							g.chr11:65268953A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268953A>G								NR_002819.2						0	3721	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.413	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		17	65	0	0	0	1	0	17	65				
ELP3	55140	broad.mit.edu	37	8	27989836	27989836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27989836C>T	ENST00000256398.8	+	9	1198	c.821C>T	c.(820-822)gCc>gTc	p.A274V	ELP3_ENST00000524103.1_Missense_Mutation_p.A202V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000521015.1_Missense_Mutation_p.A260V|ELP3_ENST00000380353.4_Missense_Mutation_p.A182V	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	274					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTTCACCTGGCCAAAGATTCC	0.443																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(820-822)gCc>gTc		elongator acetyltransferase complex subunit 3							128.0	110.0	116.0					8																	27989836		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27989836C>T		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.821C>T	8.37:g.27989836C>T	ENSP00000256398:p.Ala274Val					ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000521015.1_Missense_Mutation_p.A260V|ELP3_ENST00000380353.4_Missense_Mutation_p.A182V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000524103.1_Missense_Mutation_p.A202V	p.A274V	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	9	1198	+		Ovarian(32;0.0218)	274					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.821C>T	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114248	0.77210	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.26	5.26	0.73747	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.110234	0.64402	D	0.000009	D	0.83092	0.5179	M	0.80847	2.515	0.80722	D	1	B;B	0.22003	0.063;0.028	B;B	0.28709	0.063;0.093	T	0.81583	-0.0866	10	0.56958	D	0.05	-13.6737	16.7288	0.85430	0.0:1.0:0.0:0.0	.	155;274	B4DE19;Q9H9T3	.;ELP3_HUMAN	V	260;274;145;202;155;182	ENSP00000428449:A260V;ENSP00000256398:A274V;ENSP00000439242:A145V;ENSP00000429180:A202V;ENSP00000445558:A155V;ENSP00000369711:A182V	ENSP00000256398:A274V	A	+	2	0	ELP3	28045755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.566000	0.82347	2.598000	0.87819	0.557000	0.71058	GCC		0.443	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		6	201	0	0	0	1	0	6	201				
CYLC1	1538	broad.mit.edu	37	X	83129557	83129557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83129557C>A	ENST00000329312.4	+	4	1878	c.1841C>A	c.(1840-1842)cCt>cAt	p.P614H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	614	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCTTGTGAGCCTTCTCTACCA	0.433																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1840-1842)cCt>cAt		cylicin, basic protein of sperm head cytoskeleton 1							72.0	61.0	65.0					X																	83129557		2203	4299	6502	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129557C>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1841C>A	X.37:g.83129557C>A	ENSP00000331556:p.Pro614His						p.P614H	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1878	+			614			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1841C>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	2.564	-0.301113	0.05495	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.68479	-0.33	3.48	1.69	0.24217	.	.	.	.	.	T	0.66117	0.2757	L	0.34521	1.04	0.09310	N	1	D;D	0.63880	0.991;0.993	D;P	0.64321	0.924;0.895	T	0.53570	-0.8420	9	0.72032	D	0.01	0.7557	3.5984	0.08014	0.2457:0.6184:0.0:0.1359	.	614;614	P35663;F5H4V5	CYLC1_HUMAN;.	H	614	ENSP00000331556:P614H	ENSP00000331556:P614H	P	+	2	0	CYLC1	83016213	0.253000	0.23982	0.178000	0.23040	0.048000	0.14542	1.052000	0.30429	0.320000	0.23234	-0.276000	0.10085	CCT		0.433	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		14	211	1	0	0.00244969	1	0.00247089	14	211				
RBM22	55696	broad.mit.edu	37	5	150071373	150071373	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150071373G>A	ENST00000199814.4	-	11	1324	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	RBM22_ENST00000447771.2_Silent_p.H352H|RBM22_ENST00000540000.1_Silent_p.H352H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	401	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAAGGATAGTGGATTGGTC	0.552																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(1201-1203)caC>caT		RNA binding motif protein 22							113.0	109.0	111.0					5																	150071373		2203	4300	6503	SO:0001819	synonymous_variant	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150071373G>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1203C>T	5.37:g.150071373G>A						RBM22_ENST00000447771.2_Silent_p.H352H|RBM22_ENST00000540000.1_Silent_p.H352H	p.H401H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1324	-		Medulloblastoma(196;0.167)	401			Pro-rich.		A6NDM5|B4DLI9|O95607	Silent	SNP	ENST00000199814.4	37	c.1203C>T	CCDS34278.1																																																																																				0.552	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		81	398	0	0	0	1	0	81	398				
OR4K14	122740	broad.mit.edu	37	14	20482665	20482665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20482665C>T	ENST00000305045.2	-	1	687	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTACCGGCAGCACGCTGTCTG	0.493																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(688-690)Gct>Act		olfactory receptor, family 4, subfamily K, member 14							96.0	79.0	85.0					14																	20482665		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482665C>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.688G>A	14.37:g.20482665C>T	ENSP00000305011:p.Ala230Thr						p.A230T	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	687	-	all_cancers(95;0.00108)		230					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.688G>A	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	6.804	0.517319	0.13005	.	.	ENSG00000169484	ENST00000305045	T	0.35789	1.29	4.04	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.533866	0.15451	N	0.261671	T	0.17577	0.0422	N	0.11870	0.19	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.13872	-1.0493	10	0.59425	D	0.04	.	3.1463	0.06473	0.4265:0.3728:0.0:0.2007	.	230	Q8NGD5	OR4KE_HUMAN	T	230	ENSP00000305011:A230T	ENSP00000305011:A230T	A	-	1	0	OR4K14	19552505	0.000000	0.05858	0.013000	0.15412	0.302000	0.27658	-1.249000	0.02888	0.864000	0.35578	0.505000	0.49811	GCT		0.493	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			6	175	0	0	0	1	0	6	175				
CDC37L1	55664	broad.mit.edu	37	9	4684890	4684890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4684890G>A	ENST00000381854.3	+	2	348	c.146G>A	c.(145-147)gGa>gAa	p.G49E	CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	49	Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TATAGCCATGGAATTGAATTG	0.373																																						ENST00000381854.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(145-147)gGa>gAa		cell division cycle 37-like 1							86.0	83.0	84.0					9																	4684890		2203	4300	6503	SO:0001583	missense	55664					cytoplasm		g.chr9:4684890G>A	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.146G>A	9.37:g.4684890G>A	ENSP00000371278:p.Gly49Glu					CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E	p.G49E	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	2	348	+	all_hematologic(13;0.137)	Breast(48;0.238)	49			Self-association.		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	37	c.146G>A	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574054	0.28092	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.41065	1.01;1.02	5.86	3.05	0.35203	.	0.544665	0.20087	N	0.099523	T	0.22704	0.0548	N	0.14661	0.345	0.34232	D	0.676602	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	10	0.12103	T	0.63	-2.6289	10.5014	0.44808	0.2599:0.0:0.7401:0.0	.	49	Q7L3B6	CD37L_HUMAN	E	49	ENSP00000371282:G49E;ENSP00000371278:G49E	ENSP00000371278:G49E	G	+	2	0	CDC37L1	4674890	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.529000	0.45632	0.825000	0.34637	0.563000	0.77884	GGA		0.373	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		37	175	0	0	0	1	0	37	175				
CR2	1380	broad.mit.edu	37	1	207643069	207643069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643069C>T	ENST00000367058.3	+	6	1036	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.L283F|CR2_ENST00000367057.3_Missense_Mutation_p.L283F	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	283	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCCTATTCTCAATGGAAG	0.428																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(847-849)Ctc>Ttc		complement component (3d/Epstein Barr virus) receptor 2							92.0	88.0	89.0					1																	207643069		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643069C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.847C>T	1.37:g.207643069C>T	ENSP00000356025:p.Leu283Phe					CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000367058.3_Missense_Mutation_p.L283F|CR2_ENST00000367059.3_Missense_Mutation_p.L283F	p.L283F	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1036	+			283			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.847C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287663	0.23478	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.05	1.86	0.25419	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71995	0.3406	M	0.65975	2.015	0.09310	N	1	D;D;D	0.63046	0.992;0.98;0.991	P;D;P	0.64410	0.905;0.925;0.894	T	0.58358	-0.7650	9	0.54805	T	0.06	.	8.1256	0.30997	0.1649:0.4727:0.3624:0.0	.	283;283;283	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	F	283	ENSP00000356025:L283F;ENSP00000356024:L283F;ENSP00000356026:L283F;ENSP00000404222:L283F	ENSP00000356024:L283F	L	+	1	0	CR2	205709692	0.022000	0.18835	0.413000	0.26509	0.370000	0.29829	-0.007000	0.12810	0.780000	0.33566	-0.321000	0.08615	CTC		0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		75	404	0	0	0	1	0	75	404				
PHYKPL	85007	broad.mit.edu	37	5	177633812	177633812	+	IGR	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177633812T>C	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000504898.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.V153A|PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000358344.3_Missense_Mutation_p.V153A|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.V153A	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	AAGGACCCGGTGAAGAAAATC	0.522																																						ENST00000358344.3																			0				large_intestine(4)|prostate(1)|urinary_tract(1)	6						c.(457-459)gTg>gCg		heterogeneous nuclear ribonucleoprotein A/B							74.0	82.0	79.0					5																	177633812		2203	4300	6503	SO:0001628	intergenic_variant	3182				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr5:177633812T>C	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892		5.37:g.177633812T>C						HNRNPAB_ENST00000506339.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.V153A|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.V153A	p.V153A	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN			4	715	+			152			RRM 1.|RRM 2.		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.458T>C	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557993	0.45590	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000355836;ENST00000514633;ENST00000515193;ENST00000506259;ENST00000504898	D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.12	3.95	0.45737	.	0.059319	0.64402	D	0.000002	D	0.84515	0.5489	N	0.14661	0.345	0.50632	D	0.999884	B;B;B	0.22983	0.024;0.04;0.078	B;B;B	0.29862	0.015;0.034;0.108	T	0.78565	-0.2155	10	0.51188	T	0.08	.	9.1521	0.36969	0.0:0.0881:0.0:0.9119	.	153;153;153	D6RD18;Q99729-3;Q99729-2	.;.;.	A	153	ENSP00000351108:V153A;ENSP00000422501:V153A;ENSP00000348093:V153A;ENSP00000427110:V153A;ENSP00000423495:V153A;ENSP00000427465:V153A;ENSP00000425031:V153A	ENSP00000348093:V153A	V	+	2	0	HNRNPAB	177566418	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.560000	0.82277	0.774000	0.33427	0.260000	0.18958	GTG		0.522	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		13	599	0	0	0	1	0	13	599				
KLHL6	89857	broad.mit.edu	37	3	183225986	183225986	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183225986A>G	ENST00000341319.3	-	3	805	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	257	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTCTCGAGGACATAGGGGAG	0.572																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(769-771)gTc>gCc		kelch-like family member 6							158.0	142.0	147.0					3																	183225986		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183225986A>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.770T>C	3.37:g.183225986A>G	ENSP00000341342:p.Val257Ala						p.V257A	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		3	805	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		257			BACK.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.770T>C	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684303	0.68157	.	.	ENSG00000172578	ENST00000341319	T	0.71934	-0.61	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.625119	0.17099	N	0.187080	T	0.68751	0.3035	L	0.48877	1.53	0.22975	N	0.998485	B	0.25272	0.122	B	0.29524	0.103	T	0.64516	-0.6389	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	257	Q8WZ60	KLHL6_HUMAN	A	257	ENSP00000341342:V257A	ENSP00000341342:V257A	V	-	2	0	KLHL6	184708680	0.968000	0.33430	0.047000	0.18901	0.871000	0.50021	8.678000	0.91211	2.371000	0.80710	0.533000	0.62120	GTC		0.572	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		86	403	0	0	0	1	0	86	403				
GTF2H4	2968	broad.mit.edu	37	6	30878524	30878524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30878524G>A	ENST00000259895.4	+	5	680	c.457G>A	c.(457-459)Gag>Aag	p.E153K	GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K|GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	153					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAAGTACGCCGAGGAGCGATG	0.592								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(457-459)Gag>Aag	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							97.0	72.0	81.0					6																	30878524		1510	2707	4217	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30878524G>A	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.457G>A	6.37:g.30878524G>A	ENSP00000259895:p.Glu153Lys					GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K|GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K	p.E153K	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			5	680	+			153					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.457G>A	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774068	0.31411	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.39787	1.06;1.06;1.06	5.28	5.28	0.74379	.	0.211455	0.37261	U	0.002171	T	0.07052	0.0179	N	0.01668	-0.77	0.80722	D	1	B;B;B;B	0.17667	0.014;0.023;0.008;0.008	B;B;B;B	0.15870	0.014;0.01;0.014;0.014	T	0.26608	-1.0098	10	0.06099	T	0.92	-22.7534	16.4627	0.84069	0.0:0.0:1.0:0.0	.	159;97;153;153	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	K	153;97;153	ENSP00000259895:E153K;ENSP00000442700:E97K;ENSP00000365493:E153K	ENSP00000259895:E153K	E	+	1	0	GTF2H4	30986503	1.000000	0.71417	0.975000	0.42487	0.535000	0.34838	4.069000	0.57541	2.747000	0.94245	0.650000	0.86243	GAG		0.592	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		29	132	0	0	0	1	0	29	132				
RIPPLY2	134701	broad.mit.edu	37	6	84566960	84566960	+	Splice_Site	SNP	G	G	A	rs374534967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84566960G>A	ENST00000369689.1	+	4	390		c.e4-1		RIPPLY2_ENST00000369687.1_Splice_Site|CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2						bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCTTCTTTCAGACTATTTTGG	0.289																																						ENST00000369689.1																			0				large_intestine(2)|lung(4)|urinary_tract(1)	7						c.e4-1		ripply transcriptional repressor 2		G		0,4404		0,0,2202	62.0	67.0	65.0			5.5	1.0	6		65	1,8589	1.2+/-3.3	0,1,4294	no	splice-3	RIPPLY2	NM_001009994.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077			84566960	1,12993	2202	4295	6497	SO:0001630	splice_region_variant	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84566960G>A	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.240-1G>A	6.37:g.84566960G>A						RIPPLY2_ENST00000369687.1_Splice_Site		NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN			4	390	+								Q5TAB6	Splice_Site	SNP	ENST00000369689.1	37		CCDS34493.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173706	0.78452	0.0	1.16E-4	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIPPLY2	84623679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.729000	0.91490	2.879000	0.98667	0.650000	0.86243	.		0.289	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994	Intron	44	227	0	0	0	1	0	44	227				
MUC16	94025	broad.mit.edu	37	19	9061129	9061129	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9061129T>C	ENST00000397910.4	-	3	26520	c.26317A>G	c.(26317-26319)Att>Gtt	p.I8773V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8775	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGTAGAAATTCTAGTGATG	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26317-26319)Att>Gtt		mucin 16, cell surface associated							153.0	138.0	143.0					19																	9061129		1966	4152	6118	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061129T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26317A>G	19.37:g.9061129T>C	ENSP00000381008:p.Ile8773Val						p.I8773V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26520	-			8775			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26317A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	4.633	0.117590	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	2.28	-2.41	0.06562	.	.	.	.	.	T	0.01421	0.0046	N	0.19112	0.55	.	.	.	B	0.16603	0.018	B	0.13407	0.009	T	0.48990	-0.8985	8	0.87932	D	0	.	0.0826	0.00033	0.2812:0.2196:0.2523:0.2469	.	8773	B5ME49	.	V	8773	ENSP00000381008:I8773V	ENSP00000381008:I8773V	I	-	1	0	MUC16	8922129	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.877000	0.04197	-0.533000	0.06323	0.248000	0.18094	ATT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		101	388	0	0	0	1	0	101	388				
NFKBID	84807	broad.mit.edu	37	19	36387361	36387361	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36387361G>A	ENST00000396901.1	-	7	911	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V|NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	113					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ATGGTCAGCGGCATTGGGCTC	0.627																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(337-339)gCc>gTc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							57.0	66.0	63.0					19																	36387361		2047	4191	6238	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36387361G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.338C>T	19.37:g.36387361G>A	ENSP00000380109:p.Ala113Val					NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V|NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V	p.A113V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			7	911	-			113					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.338C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398000	0.25205	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.67865	-0.29;-0.29	4.81	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.119358	0.56097	D	0.000032	T	0.59932	0.2230	L	0.39147	1.195	0.80722	D	1	B;B	0.27416	0.178;0.066	B;B	0.34418	0.182;0.053	T	0.58814	-0.7570	10	0.49607	T	0.09	.	11.8805	0.52574	0.0:0.0:0.8239:0.1761	.	265;113	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	V	265;113	ENSP00000252985:A265V;ENSP00000380109:A113V	ENSP00000252985:A265V	A	-	2	0	NFKBID	41079201	0.996000	0.38824	0.886000	0.34754	0.625000	0.37756	3.571000	0.53841	0.958000	0.37956	0.561000	0.74099	GCC		0.627	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		39	411	0	0	0	1	0	39	411				
SARDH	1757	broad.mit.edu	37	9	136594899	136594899	+	Silent	SNP	G	G	A	rs200130370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136594899G>A	ENST00000371872.4	-	6	1160	c.903C>T	c.(901-903)atC>atT	p.I301I	SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000371867.1_Silent_p.I212I|SARDH_ENST00000439388.1_Silent_p.I301I|SARDH_ENST00000298628.5_Silent_p.I301I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	301					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATCCCCTCGATGCGCTCGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18860	0.0		0.001	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(901-903)atC>atT		sarcosine dehydrogenase							98.0	82.0	87.0					9																	136594899		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594899G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.903C>T	9.37:g.136594899G>A						SARDH_ENST00000371867.1_Silent_p.I212I|SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000298628.5_Silent_p.I301I|SARDH_ENST00000439388.1_Silent_p.I301I	p.I301I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	6	1160	-			301					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.903C>T	CCDS6978.1																																																																																				0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			67	268	0	0	0	1	0	67	268				
TRPM1	4308	broad.mit.edu	37	15	31323236	31323236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31323236T>C	ENST00000256552.6	-	23	3224	c.3077A>G	c.(3076-3078)tAc>tGc	p.Y1026C	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.Y1043C|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGGGCATGTAGAAGATGTT	0.488																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3127-3129)tAc>tGc		transient receptor potential cation channel, subfamily M, member 1							149.0	152.0	151.0					15																	31323236		2161	4289	6450	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31323236T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3077A>G	15.37:g.31323236T>C	ENSP00000256552:p.Tyr1026Cys					TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1026C|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C|RP11-348B17.1_ENST00000558755.1_RNA	p.Y1043C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	22	3441	-		all_lung(180;1.92e-11)	1004						Missense_Mutation	SNP	ENST00000256552.6	37	c.3128A>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448492	0.84101	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.98455	-4.94;-4.94;-4.94	6.05	6.05	0.98169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77004	0.987;0.989	D	0.99846	1.1066	10	0.87932	D	0	-26.5266	16.5932	0.84781	0.0:0.0:0.0:1.0	.	998;1004	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1004;1043;1026;1004	ENSP00000380897:Y1004C;ENSP00000437849:Y1043C;ENSP00000256552:Y1026C	ENSP00000256552:Y1026C	Y	-	2	0	TRPM1	29110528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.976000	0.63785	2.320000	0.78422	0.528000	0.53228	TAC		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		105	418	0	0	0	1	0	105	418				
C3orf67	200844	broad.mit.edu	37	3	58855183	58855183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58855183A>G	ENST00000482387.1	-	5	607	c.511T>C	c.(511-513)Tca>Cca	p.S171P	C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.S91P			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGCTGGCATGATCGGTTATTT	0.368																																						ENST00000472469.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(271-273)Tca>Cca		chromosome 3 open reading frame 67							118.0	111.0	113.0					3																	58855183		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58855183A>G	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.511T>C	3.37:g.58855183A>G	ENSP00000417122:p.Ser171Pro					RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000492031.1_RNA	p.S91P			Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	8	1109	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	171					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.271T>C		.	.	.	.	.	.	.	.	.	.	A	13.48	2.250966	0.39797	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.55052	0.54;0.54;0.54	5.85	3.21	0.36854	.	0.547984	0.17910	N	0.157884	T	0.45337	0.1337	L	0.59436	1.845	0.09310	N	1	B;B	0.22683	0.073;0.004	B;B	0.25884	0.064;0.011	T	0.39683	-0.9602	10	0.44086	T	0.13	-1.7827	5.7794	0.18297	0.7533:0.0:0.0873:0.1594	.	91;171	C9J3M8;Q6ZVT6-2	.;.	P	171;171;91	ENSP00000295966:S171P;ENSP00000417122:S171P;ENSP00000417271:S91P	ENSP00000295966:S171P	S	-	1	0	C3orf67	58830223	0.542000	0.26426	0.003000	0.11579	0.347000	0.29111	2.849000	0.48286	1.044000	0.40200	0.533000	0.62120	TCA		0.368	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		95	311	0	0	0	1	0	95	311				
TPCN1	53373	broad.mit.edu	37	12	113698178	113698178	+	Missense_Mutation	SNP	G	G	A	rs138959802	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113698178G>A	ENST00000335509.6	+	3	432	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S|TPCN1_ENST00000392569.4_5'UTR|TPCN1_ENST00000550785.1_Missense_Mutation_p.G112S	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	40					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCAGATGGCGGCAGCTATGC	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18863	0.0		0.0	False		,,,				2504	0.0					ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(334-336)Ggc>Agc		two pore segment channel 1		G	SER/GLY,SER/GLY	6,4400	11.4+/-27.6	0,6,2197	56.0	53.0	54.0		118,334	3.5	1.0	12	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense	TPCN1	NM_017901.4,NM_001143819.1	56,56	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	40/817,112/889	113698178	6,13000	2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113698178G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.118G>A	12.37:g.113698178G>A	ENSP00000335300:p.Gly40Ser					TPCN1_ENST00000335509.6_Missense_Mutation_p.G40S|TPCN1_ENST00000392569.4_5'UTR|TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S	p.G112S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			4	503	+			40					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.334G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086673	0.55861	0.001362	0.0	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000335509;ENST00000550785;ENST00000541517	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	4.38	3.49	0.39957	.	0.294004	0.32608	N	0.005863	T	0.38081	0.1027	M	0.62723	1.935	0.46149	D	0.998893	B;B	0.26081	0.141;0.026	B;B	0.28784	0.094;0.015	T	0.13926	-1.0491	10	0.19590	T	0.45	-17.5962	10.5864	0.45286	0.0896:0.0:0.9104:0.0	.	112;40	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	16;95;126;40;112;40;112;112	ENSP00000447806:G16S;ENSP00000449560:G95S;ENSP00000447569:G126S;ENSP00000447073:G40S;ENSP00000447263:G112S;ENSP00000335300:G40S;ENSP00000448083:G112S;ENSP00000438125:G112S	ENSP00000335300:G40S	G	+	1	0	TPCN1	112182561	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.386000	0.52492	1.074000	0.40909	0.591000	0.81541	GGC		0.552	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		38	237	0	0	0	1	0	38	237				
SLC26A5	375611	broad.mit.edu	37	7	103014868	103014868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103014868G>A	ENST00000306312.3	-	20	2474	c.2213C>T	c.(2212-2214)aCt>aTt	p.T738I	SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	738					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGTGGCAGGAGTGGCATTGGG	0.498																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(2212-2214)aCt>aTt		solute carrier family 26 (anion exchanger), member 5							49.0	43.0	45.0					7																	103014868		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103014868G>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2213C>T	7.37:g.103014868G>A	ENSP00000304783:p.Thr738Ile					SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I	p.T738I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			20	2474	-			738					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.2213C>T	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509203	0.64522	.	.	ENSG00000170615	ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D	0.95918	-3.19;-3.19;-3.19;-3.85;-3.12;-3.19;-3.19	5.69	2.68	0.31781	.	0.497940	0.20465	N	0.091816	D	0.87573	0.6211	N	0.08118	0	0.09310	N	1	B;P	0.45348	0.085;0.856	B;B	0.41299	0.039;0.353	T	0.82236	-0.0557	10	0.72032	D	0.01	.	7.3653	0.26770	0.0:0.2418:0.4582:0.3	.	738;706	P58743;Q496J2	S26A5_HUMAN;.	I	738;706;706;171;701;740;708	ENSP00000304783:T738I;ENSP00000377331:T706I;ENSP00000389733:T706I;ENSP00000346325:T171I;ENSP00000377330:T701I;ENSP00000377328:T740I;ENSP00000377324:T708I	ENSP00000304783:T738I	T	-	2	0	SLC26A5	102802104	0.061000	0.20836	0.875000	0.34327	0.735000	0.41995	1.295000	0.33377	1.402000	0.46780	0.454000	0.30748	ACT		0.498	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		38	135	0	0	0	1	0	38	135				
NAT8L	339983	broad.mit.edu	37	4	2062757	2062757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2062757C>T	ENST00000423729.2	+	2	409	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	NAT8L_ENST00000331662.3_5'UTR	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	137					metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTCGCTGCTGCTGACGTGCCT	0.746																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(409-411)Ctg>Ttg		N-acetyltransferase 8-like (GCN5-related, putative)							12.0	16.0	15.0					4																	2062757		684	1579	2263	SO:0001819	synonymous_variant	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2062757C>T	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.409C>T	4.37:g.2062757C>T						NAT8L_ENST00000331662.3_5'UTR	p.L137L	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		2	409	+			137						Silent	SNP	ENST00000423729.2	37	c.409C>T	CCDS3359.2																																																																																				0.746	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		13	44	0	0	0	1	0	13	44				
CASP8AP2	9994	broad.mit.edu	37	6	90578207	90578207	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578207C>T	ENST00000551025.1	+	0	6635									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGGCTGATACTGTAGGTGCT	0.388																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							87.0	80.0	82.0					6																	90578207		1883	4115	5998			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578207C>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578207C>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6635	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		13	210	0	0	0	1	0	13	210				
FOXB2	442425	broad.mit.edu	37	9	79634736	79634736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634736C>T	ENST00000376708.1	+	1	166	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	56					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GCACACACAGCGCTGGCAGAA	0.607																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(166-168)Cgc>Tgc		forkhead box B2							77.0	69.0	72.0					9																	79634736		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634736C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.166C>T	9.37:g.79634736C>T	ENSP00000365898:p.Arg56Cys						p.R56C	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	166	+			56						Missense_Mutation	SNP	ENST00000376708.1	37	c.166C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842987	0.51057	.	.	ENSG00000204612	ENST00000376708	D	0.95588	-3.75	4.3	4.3	0.51218	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98304	1.0520	10	0.87932	D	0	.	11.926	0.52819	0.1742:0.8258:0.0:0.0	.	56	Q5VYV0	FOXB2_HUMAN	C	56	ENSP00000365898:R56C	ENSP00000365898:R56C	R	+	1	0	FOXB2	78824556	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.316000	0.33620	2.104000	0.64026	0.561000	0.74099	CGC		0.607	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		52	248	0	0	0	1	0	52	248				
CRYGC	1420	broad.mit.edu	37	2	208994239	208994239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208994239G>A	ENST00000282141.3	-	2	215	c.178C>T	c.(178-180)Cga>Tga	p.R60*		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	60	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TACTCCCCTCGCCGCAGCAAG	0.567																																						ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(178-180)Cga>Tga		crystallin, gamma C							69.0	74.0	72.0					2																	208994239		2203	4300	6503	SO:0001587	stop_gained	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994239G>A		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.178C>T	2.37:g.208994239G>A	ENSP00000282141:p.Arg60*						p.R60*	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	215	-			60			Beta/gamma crystallin 'Greek key' 2.		Q53R50	Nonsense_Mutation	SNP	ENST00000282141.3	37	c.178C>T	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067463	0.55539	.	.	ENSG00000163254	ENST00000282141	.	.	.	4.98	1.9	0.25705	.	0.230620	0.30575	N	0.009330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9314	0.63998	0.0:0.0:0.5404:0.4596	.	.	.	.	X	60	.	ENSP00000282141:R60X	R	-	1	2	CRYGC	208702484	0.000000	0.05858	0.987000	0.45799	0.293000	0.27360	0.281000	0.18810	0.211000	0.20683	-2.048000	0.00412	CGA		0.567	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		194	506	0	0	0	1	0	194	506				
ANO8	57719	broad.mit.edu	37	19	17443792	17443792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17443792G>A	ENST00000159087.4	-	5	691	c.533C>T	c.(532-534)gCc>gTc	p.A178V	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	178					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCCCTGCTTGGCACGCAAATT	0.602																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(532-534)gCc>gTc		anoctamin 8							67.0	60.0	62.0					19																	17443792		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17443792G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.533C>T	19.37:g.17443792G>A	ENSP00000159087:p.Ala178Val						p.A178V	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			5	691	-			178					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.533C>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507049	0.96386	.	.	ENSG00000074855	ENST00000159087	T	0.64438	-0.1	5.32	5.32	0.75619	.	0.166846	0.52532	D	0.000076	T	0.77758	0.4178	M	0.84683	2.71	0.47949	D	0.999559	D	0.56521	0.976	P	0.58577	0.841	T	0.77504	-0.2563	10	0.30854	T	0.27	.	16.4823	0.84161	0.0:0.0:1.0:0.0	.	178	Q9HCE9	ANO8_HUMAN	V	178	ENSP00000159087:A178V	ENSP00000159087:A178V	A	-	2	0	ANO8	17304792	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	9.123000	0.94387	2.499000	0.84300	0.555000	0.69702	GCC		0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		54	228	0	0	0	1	0	54	228				
CSMD3	114788	broad.mit.edu	37	8	113246693	113246693	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113246693G>A	ENST00000297405.5	-	68	10885	c.10641C>T	c.(10639-10641)agC>agT	p.S3547S	CSMD3_ENST00000455883.2_Silent_p.S3378S|CSMD3_ENST00000343508.3_Silent_p.S3507S|CSMD3_ENST00000352409.3_Silent_p.S3477S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGCTTCCTGGCTTTTATATA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10639-10641)agC>agT		CUB and Sushi multiple domains 3							140.0	137.0	138.0					8																	113246693		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113246693G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10641C>T	8.37:g.113246693G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.S3507S|CSMD3_ENST00000455883.2_Silent_p.S3378S|CSMD3_ENST00000352409.3_Silent_p.S3477S	p.S3547S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			68	10885	-			3547					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10641C>T	CCDS6315.1																																																																																				0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		102	427	0	0	0	1	0	102	427				
TTC30A	92104	broad.mit.edu	37	2	178483101	178483101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483101G>A	ENST00000355689.5	-	1	593	c.329C>T	c.(328-330)gCc>gTc	p.A110V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	110					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCTGTGGTAGGCGGGGTTATC	0.637																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(328-330)gCc>gTc		tetratricopeptide repeat domain 30A							37.0	41.0	40.0					2																	178483101		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178483101G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.329C>T	2.37:g.178483101G>A	ENSP00000347915:p.Ala110Val					AC073834.3_ENST00000357045.4_RNA	p.A110V	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	593	-			110					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.329C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300224	0.40694	.	.	ENSG00000197557	ENST00000355689	T	0.78816	-1.21	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.311741	0.39083	N	0.001467	T	0.75191	0.3816	L	0.48642	1.525	0.47862	D	0.999533	B	0.17268	0.021	B	0.20767	0.031	T	0.66917	-0.5802	10	0.32370	T	0.25	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	110	Q86WT1	TT30A_HUMAN	V	110	ENSP00000347915:A110V	ENSP00000347915:A110V	A	-	2	0	TTC30A	178191347	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.468000	0.53086	2.868000	0.98415	0.555000	0.69702	GCC		0.637	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		16	352	0	0	0	1	0	16	352				
GNAS	2778	broad.mit.edu	37	20	57429152	57429152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429152C>T	ENST00000371100.4	+	1	1384	c.832C>T	c.(832-834)Cca>Tca	p.P278S	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.S214S|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTCTGGGTCCCAGGCGCCAT	0.667			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(832-834)Cca>Tca		GNAS complex locus							13.0	15.0	14.0					20																	57429152		1846	4021	5867	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429152C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.832C>T	20.37:g.57429152C>T	ENSP00000360141:p.Pro278Ser	TSP Lung(22;0.16)				GNAS_ENST00000306120.3_Silent_p.S214S|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000371075.3_Intron	p.P278S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1384	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.832C>T	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	5.717	0.316749	0.10845	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88354	-2.37;-2.37	4.03	1.02	0.19986	.	3.592490	0.01353	N	0.011966	T	0.80592	0.4652	N	0.19112	0.55	0.49051	D	0.999745	B	0.20550	0.046	B	0.12156	0.007	T	0.63497	-0.6624	9	.	.	.	.	6.0166	0.19607	0.0:0.6647:0.0:0.3353	.	278	Q5JWF2	GNAS1_HUMAN	S	278	ENSP00000360141:P278S;ENSP00000360143:P278S	.	P	+	1	0	GNAS	56862547	0.381000	0.25140	0.288000	0.24862	0.073000	0.16967	0.624000	0.24462	0.270000	0.21984	0.561000	0.74099	CCA		0.667	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		22	131	0	0	0	1	0	22	131				
XIRP1	165904	broad.mit.edu	37	3	39229727	39229727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229727G>A	ENST00000340369.3	-	2	1438	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	404					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGATCCACTCGCTGTAGGTGA	0.582																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1210-1212)Cga>Tga		xin actin-binding repeat containing 1							145.0	145.0	145.0					3																	39229727		2203	4300	6503	SO:0001587	stop_gained	165904						actin binding	g.chr3:39229727G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1210C>T	3.37:g.39229727G>A	ENSP00000343140:p.Arg404*					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*	p.R404*	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1438	-			404					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Nonsense_Mutation	SNP	ENST00000340369.3	37	c.1210C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	39	7.305397	0.98200	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	.	.	.	5.17	4.27	0.50696	.	0.118422	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.9849	0.47516	0.0:0.0:0.6612:0.3388	.	.	.	.	X	404	.	ENSP00000343140:R404X	R	-	1	2	XIRP1	39204731	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.495000	0.66912	1.279000	0.44446	0.655000	0.94253	CGA		0.582	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		51	1155	0	0	0	1	0	51	1155				
POLG	5428	broad.mit.edu	37	15	89873447	89873447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89873447C>T	ENST00000268124.5	-	3	1053	c.720G>A	c.(718-720)tcG>tcA	p.S240S	POLG_ENST00000525806.1_5'Flank|POLG_ENST00000442287.2_Silent_p.S240S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	240					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGTCAGCCGGCGACAGCTGGC	0.612								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(718-720)tcG>tcA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							40.0	39.0	39.0					15																	89873447		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89873447C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.720G>A	15.37:g.89873447C>T						POLG_ENST00000442287.2_Silent_p.S240S	p.S240S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		3	1053	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		240					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.720G>A	CCDS10350.1																																																																																				0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		20	240	0	0	0	1	0	20	240				
F5	2153	broad.mit.edu	37	1	169524465	169524465	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524465T>G	ENST00000367797.3	-	7	1274	c.1073A>C	c.(1072-1074)gAa>gCa	p.E358A	F5_ENST00000546081.1_Missense_Mutation_p.E221A|F5_ENST00000367796.3_Missense_Mutation_p.E358A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	358	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCAAATGACTTCCTCTGCAGC	0.448																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1072-1074)gAa>gCa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						221.0	200.0	207.0					1																	169524465		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169524465T>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1073A>C	1.37:g.169524465T>G	ENSP00000356771:p.Glu358Ala					F5_ENST00000546081.1_Missense_Mutation_p.E221A|F5_ENST00000367797.3_Missense_Mutation_p.E358A	p.E358A			P12259	FA5_HUMAN			7	1274	-	all_hematologic(923;0.208)		358			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1073A>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752544	0.89753	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99186	-5.53;-5.53;-5.53	5.6	5.6	0.85130	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.91459	3.21	0.41728	D	0.989546	D	0.89917	1.0	D	0.74674	0.984	D	0.98686	1.0694	9	0.87932	D	0	-24.1444	15.8288	0.78736	0.0:0.0:0.0:1.0	.	358	P12259	FA5_HUMAN	A	358;358;221	ENSP00000356771:E358A;ENSP00000356770:E358A;ENSP00000439664:E221A	ENSP00000356770:E358A	E	-	2	0	F5	167791089	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.238000	0.78173	2.144000	0.66660	0.524000	0.50904	GAA		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		119	558	0	0	0	1	0	119	558				
ZNF33A	7581	broad.mit.edu	37	10	38344716	38344716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38344716G>A	ENST00000458705.2	+	5	1819	c.1661G>A	c.(1660-1662)tGt>tAt	p.C554Y	ZNF33A_ENST00000374618.3_Missense_Mutation_p.C555Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y			Q06730	ZN33A_HUMAN	zinc finger protein 33A	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTTTGCATGTCCCGAATGT	0.428																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1663-1665)tGt>tAt		zinc finger protein 33A							101.0	103.0	103.0					10																	38344716		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344716G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1661G>A	10.37:g.38344716G>A	ENSP00000387713:p.Cys554Tyr					ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.C554Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y	p.C555Y	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	1842	+			554					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1664G>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624374	0.28889	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001464	D	0.91449	0.7301	M	0.87038	2.855	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.933	T	0.82596	-0.0379	10	0.87932	D	0	.	8.8786	0.35360	0.0:0.0:1.0:0.0	.	561;554;555	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	555;561;554;554	ENSP00000363747:C555Y;ENSP00000402467:C561Y;ENSP00000387713:C554Y;ENSP00000304268:C554Y	ENSP00000304268:C554Y	C	+	2	0	ZNF33A	38384722	1.000000	0.71417	0.992000	0.48379	0.694000	0.40290	8.253000	0.89842	0.897000	0.36392	0.305000	0.20034	TGT		0.428	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		135	505	0	0	0	1	0	135	505				
MAPK8	5599	broad.mit.edu	37	10	49639287	49639287	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49639287T>G	ENST00000374189.1	+	11	1293	c.1112T>G	c.(1111-1113)gTt>gGt	p.V371G	MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G|MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	371					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AAGAATGGAGTTATACGGGGG	0.373																																						ENST00000374189.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34						c.(1111-1113)gTt>gGt		mitogen-activated protein kinase 8							83.0	86.0	85.0					10																	49639287		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49639287T>G	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.1112T>G	10.37:g.49639287T>G	ENSP00000363304:p.Val371Gly					MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G	p.V371G			P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	11	1293	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	371					B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.1112T>G	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620018	0.87460	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000395611	T;T;T;T;T;T	0.75367	-0.92;-0.9;-0.9;-0.92;-0.93;-0.74	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.75447	2.3	0.80722	D	1	D;B;B;B;B	0.54601	0.967;0.125;0.001;0.001;0.257	D;B;B;B;B	0.64595	0.927;0.096;0.002;0.002;0.287	D	0.83661	0.0161	10	0.34782	T	0.22	.	16.2107	0.82151	0.0:0.0:0.0:1.0	.	295;371;371;371;371	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	G	371;371;371;371;371;295	ENSP00000363304:V371G;ENSP00000363297:V371G;ENSP00000363294:V371G;ENSP00000353483:V371G;ENSP00000363291:V371G;ENSP00000378974:V295G	ENSP00000353483:V371G	V	+	2	0	MAPK8	49309293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.852000	0.86927	2.293000	0.77203	0.477000	0.44152	GTT		0.373	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			8	176	0	0	0	1	0	8	176				
ACTA2	59	broad.mit.edu	37	10	90699290	90699290	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90699290T>A	ENST00000458208.1	-	7	1256	c.782A>T	c.(781-783)gAg>gTg	p.E261V	ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	261					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GAACAGGGTCTCTGGGCAGCG	0.532																																						ENST00000458208.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.(781-783)gAg>gTg		actin, alpha 2, smooth muscle, aorta							127.0	115.0	119.0					10																	90699290		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90699290T>A	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.782A>T	10.37:g.90699290T>A	ENSP00000402373:p.Glu261Val					ACTA2-AS1_ENST00000596007.1_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.3_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V	p.E261V	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	7	1256	-		Colorectal(252;0.0161)	261					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.782A>T	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990665	0.74589	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.98135	-4.74;-4.74	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99997	5.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97028	0.9748	10	0.87932	D	0	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	261	P62736	ACTA_HUMAN	V	261;261;216	ENSP00000224784:E261V;ENSP00000402373:E261V	ENSP00000224784:E261V	E	-	2	0	ACTA2	90689270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.330000	0.79161	0.533000	0.62120	GAG		0.532	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		83	421	0	0	0	1	0	83	421				
ETFDH	2110	broad.mit.edu	37	4	159627874	159627874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627874C>A	ENST00000511912.1	+	12	1894	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	ETFDH_ENST00000307738.5_Missense_Mutation_p.S474Y	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	521					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CTCTTGTCATCTGTGGCTCTG	0.438																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1561-1563)tCt>tAt		electron-transferring-flavoprotein dehydrogenase							188.0	177.0	181.0					4																	159627874		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627874C>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1562C>A	4.37:g.159627874C>A	ENSP00000426638:p.Ser521Tyr					ETFDH_ENST00000307738.5_Missense_Mutation_p.S474Y	p.S521Y	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	12	1894	+	all_hematologic(180;0.24)	Renal(120;0.0458)	521					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1562C>A	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910147	0.92107	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.95949	-3.86;-3.86	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.99372	1.0920	10	0.87932	D	0	-0.078	19.6878	0.95987	0.0:1.0:0.0:0.0	.	474;460;521	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	Y	521;474	ENSP00000426638:S521Y;ENSP00000303552:S474Y	ENSP00000303552:S474Y	S	+	2	0	ETFDH	159847324	1.000000	0.71417	0.927000	0.36925	0.989000	0.77384	7.818000	0.86416	2.646000	0.89796	0.591000	0.81541	TCT		0.438	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			162	715	1	0	7.05154e-75	1	8.98825e-75	162	715				
MON1B	22879	broad.mit.edu	37	16	77228783	77228783	+	Silent	SNP	C	C	T	rs533041353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228783C>T	ENST00000248248.3	+	4	1377	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	MON1B_ENST00000545553.1_Silent_p.L197L|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Silent_p.L234L	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	343										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGTGGCCCGCCTGGATGCTAT	0.637																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1027-1029)Ctg>Ttg		MON1 secretory trafficking family member B							99.0	102.0	101.0					16																	77228783		2198	4300	6498	SO:0001819	synonymous_variant	22879						protein binding	g.chr16:77228783C>T	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1027C>T	16.37:g.77228783C>T						MON1B_ENST00000545553.1_Silent_p.L197L|MON1B_ENST00000439557.2_Silent_p.L234L|MON1B_ENST00000320859.6_Intron	p.L343L	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	1377	+			343					B4DDZ0|O94949	Silent	SNP	ENST00000248248.3	37	c.1027C>T	CCDS10925.1																																																																																				0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		120	617	0	0	0	1	0	120	617				
CYP4B1	1580	broad.mit.edu	37	1	47279186	47279186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279186G>A	ENST00000271153.4	+	5	564	c.528G>A	c.(526-528)aaG>aaA	p.K176K	CYP4B1_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K|CYP4B1_ENST00000371919.4_Silent_p.K161K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	176					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GGGAGGGTAAGTCCTTTGACA	0.567																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(526-528)aaG>aaA		cytochrome P450, family 4, subfamily B, polypeptide 1							125.0	118.0	121.0					1																	47279186		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279186G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.528G>A	1.37:g.47279186G>A						CYP4B1_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K|CYP4B1_ENST00000371919.4_Silent_p.K161K	p.K176K			P13584	CP4B1_HUMAN			5	564	+	Acute lymphoblastic leukemia(166;0.155)		176					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.528G>A	CCDS542.1																																																																																				0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		25	222	0	0	0	1	0	25	222				
FLG	2312	broad.mit.edu	37	1	152276040	152276040	+	Silent	SNP	G	G	A	rs544796549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152276040G>A	ENST00000368799.1	-	3	11357	c.11322C>T	c.(11320-11322)caC>caT	p.H3774H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3774	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H3774H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCGTGGTAGGATC	0.592									Ichthyosis																													ENST00000368799.1																			2	Substitution - coding silent(2)	p.H3774H(2)	lung(1)|prostate(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11320-11322)caC>caT		filaggrin							379.0	367.0	371.0					1																	152276040		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276040G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11322C>T	1.37:g.152276040G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H3774H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11357	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3774			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11322C>T	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		237	2588	0	0	0	1	0	237	2588				
KIAA0196	9897	broad.mit.edu	37	8	126051140	126051140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126051140C>A	ENST00000318410.7	-	25	3365	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1006					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGTGTGTTATCTTCTTTGGGG	0.423																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(3016-3018)Gat>Tat		KIAA0196							146.0	148.0	147.0					8																	126051140		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126051140C>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3016G>T	8.37:g.126051140C>A	ENSP00000318016:p.Asp1006Tyr					KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y	p.D1006Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		25	3365	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1006					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.3016G>T	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837395|4.837395	0.91117|0.91117	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86497|.	-2.13;-2.13|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.180662|.	0.64402|.	D|.	0.000020|.	T|T	0.77212|0.77212	0.4097|0.4097	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.975|.	D;P|.	0.71414|.	0.973;0.88|.	T|T	0.74481|0.74481	-0.3651|-0.3651	10|5	0.72032|.	D|.	0.01|.	-17.7857|-17.7857	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	858;1006|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	Y|N	1006;858|622	ENSP00000318016:D1006Y;ENSP00000429676:D858Y|.	ENSP00000318016:D1006Y|.	D|K	-|-	1|3	0|2	KIAA0196|KIAA0196	126120322|126120322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.814000|7.814000	0.86154|0.86154	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAT|AAG		0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		31	741	1	0	1.36615e-20	1	1.53219e-20	31	741				
PPP1CA	5499	broad.mit.edu	37	11	67166104	67166104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67166104C>T	ENST00000376745.4	-	7	1043	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T|PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	299					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTCTTGTCGGCGGGCTTGAGG	0.587																																						ENST00000376745.4																			0				breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7						c.(895-897)Gcc>Acc		protein phosphatase 1, catalytic subunit, alpha isozyme							90.0	86.0	87.0					11																	67166104		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67166104C>T		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.895G>A	11.37:g.67166104C>T	ENSP00000365936:p.Ala299Thr					PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T	p.A299T	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		7	1043	-			299					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.895G>A	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875607	0.72180	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239	T;T;T	0.05513	3.43;3.43;3.43	4.76	4.76	0.60689	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000015	T	0.08403	0.0209	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B;B	0.22003	0.063;0.063;0.004;0.022;0.01;0.003	B;B;B;B;B;B	0.10450	0.005;0.005;0.001;0.003;0.001;0.002	T	0.11251	-1.0595	10	0.66056	D	0.02	-15.3637	16.6987	0.85343	0.0:1.0:0.0:0.0	.	396;396;299;255;310;308	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	T	310;396;299;255	ENSP00000326031:A310T;ENSP00000365936:A299T;ENSP00000350974:A255T	ENSP00000326031:A310T	A	-	1	0	PPP1CA	66922680	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.224000	0.65288	2.474000	0.83562	0.462000	0.41574	GCC		0.587	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		46	211	0	0	0	1	0	46	211				
SNIP1	79753	broad.mit.edu	37	1	38006201	38006201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38006201C>A	ENST00000296215.6	-	3	555	c.483G>T	c.(481-483)caG>caT	p.Q161H	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	161	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTCCCTGACCCTGCCCACTCC	0.587																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(481-483)caG>caT		Smad nuclear interacting protein 1							120.0	125.0	123.0					1																	38006201		2203	4300	6503	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38006201C>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.483G>T	1.37:g.38006201C>A	ENSP00000296215:p.Gln161His					SNIP1_ENST00000468040.1_5'UTR	p.Q161H	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			3	555	-		Myeloproliferative disorder(586;0.0393)	161			Arg-rich.		Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.483G>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439562	0.12104	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.14766	2.48	4.39	4.39	0.52855	.	0.261227	0.37761	N	0.001952	T	0.07818	0.0196	N	0.14661	0.345	0.30487	N	0.771717	P	0.39624	0.681	B	0.37601	0.254	T	0.04930	-1.0917	10	0.41790	T	0.15	-9.8716	8.976	0.35935	0.0:0.7008:0.215:0.0843	.	161	Q8TAD8	SNIP1_HUMAN	H	161;145	ENSP00000296215:Q161H	ENSP00000296215:Q161H	Q	-	3	2	SNIP1	37778788	0.345000	0.24835	0.995000	0.50966	0.036000	0.12997	-0.332000	0.07904	2.733000	0.93635	0.655000	0.94253	CAG		0.587	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		139	582	1	0	8.12429e-59	1	1.01946e-58	139	582				
HEG1	57493	broad.mit.edu	37	3	124739746	124739746	+	Missense_Mutation	SNP	G	G	A	rs373641692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124739746G>A	ENST00000311127.4	-	4	1209	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	381					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTTCTTCTCGATTCCACTGC	0.473																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(1141-1143)tCg>tTg		heart development protein with EGF-like domains 1		G	LEU/SER	1,3847		0,1,1923	94.0	96.0	95.0		1142	-1.7	0.0	3		95	0,8274		0,0,4137	no	missense	HEG1	NM_020733.1	145	0,1,6060	AA,AG,GG		0.0,0.026,0.0082	benign	381/1382	124739746	1,12121	1924	4137	6061	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124739746G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1142C>T	3.37:g.124739746G>A	ENSP00000311502:p.Ser381Leu						p.S381L	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			4	1209	-			381					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1142C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.128058	0.20959	2.6E-4	0.0	ENSG00000173706	ENST00000311127	T	0.42900	0.96	5.02	-1.67	0.08238	.	.	.	.	.	T	0.20414	0.0491	N	0.12746	0.255	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.06405	0.002;0.001	T	0.15521	-1.0434	9	0.34782	T	0.22	.	5.4471	0.16541	0.437:0.1444:0.4187:0.0	.	381;381	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	381	ENSP00000311502:S381L	ENSP00000311502:S381L	S	-	2	0	HEG1	126222436	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.359000	0.07632	-0.588000	0.05882	0.655000	0.94253	TCG		0.473	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		48	155	0	0	0	1	0	48	155				
IGHG3	3502	broad.mit.edu	37	14	106237597	106237597	+	RNA	SNP	G	G	A	rs375308649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106237597G>A	ENST00000390551.2	-	0	145							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGGTGTGCACGCCGCTGGTCA	0.657																																						ENST00000390551.2																			0															G		0,3820		0,0,1910	37.0	34.0	35.0			-4.8	0.0	14		35	1,8113		0,1,4056	no	intergenic				0,1,5966	AA,AG,GG		0.0123,0.0,0.0084			106237597	1,11933	1910	4057	5967			0							g.chr14:106237597G>A	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237597G>A														0	145	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.657	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		49	157	0	0	0	1	0	49	157				
HRASLS2	54979	broad.mit.edu	37	11	63327622	63327622	+	Missense_Mutation	SNP	C	C	T	rs151240711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63327622C>T	ENST00000255695.1	-	2	111	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	18					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATAGCCAAAGCGAGAAATCTC	0.502																																						ENST00000255695.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(52-54)cGc>cAc		HRAS-like suppressor 2		C	HIS/ARG	0,4402		0,0,2201	232.0	224.0	227.0		53	-0.4	0.0	11	dbSNP_134	227	1,8595	1.2+/-3.3	0,1,4297	no	missense	HRASLS2	NM_017878.1	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	18/163	63327622	1,12997	2201	4298	6499	SO:0001583	missense	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63327622C>T		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.53G>A	11.37:g.63327622C>T	ENSP00000255695:p.Arg18His						p.R18H	NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN			2	111	-			18					B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	c.53G>A	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625248	0.87560	0.0	1.16E-4	ENSG00000133328	ENST00000255695	T	0.45276	0.9	4.86	-0.381	0.12485	.	0.194727	0.29253	U	0.012692	T	0.57272	0.2042	M	0.89163	3.01	0.09310	N	1	D	0.69078	0.997	D	0.63957	0.92	T	0.49790	-0.8902	10	0.54805	T	0.06	-1.4955	2.6373	0.04961	0.132:0.4194:0.2856:0.1631	.	18	Q9NWW9	HRSL2_HUMAN	H	18	ENSP00000255695:R18H	ENSP00000255695:R18H	R	-	2	0	HRASLS2	63084198	0.098000	0.21812	0.000000	0.03702	0.886000	0.51366	1.077000	0.30741	-0.225000	0.09913	0.563000	0.77884	CGC		0.502	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878		186	845	0	0	0	1	0	186	845				
PRAMEF12	390999	broad.mit.edu	37	1	12837727	12837727	+	Missense_Mutation	SNP	G	G	T	rs376965379		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837727G>T	ENST00000357726.4	+	3	1464	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	479					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCTGTCAGGGTGGATTTA	0.502																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1435-1437)caG>caT		PRAME family member 12							67.0	70.0	69.0					1																	12837727		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837727G>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1437G>T	1.37:g.12837727G>T	ENSP00000350358:p.Gln479His						p.Q479H	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1464	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	479						Missense_Mutation	SNP	ENST00000357726.4	37	c.1437G>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	7.381	0.628857	0.14257	.	.	ENSG00000116726	ENST00000357726	T	0.01369	4.97	2.45	1.49	0.22878	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P	0.46142	0.873	B	0.42245	0.381	T	0.54364	-0.8305	9	0.87932	D	0	.	6.5031	0.22180	0.0:0.0:0.7144:0.2856	.	479	O95522	PRA12_HUMAN	H	479	ENSP00000350358:Q479H	ENSP00000350358:Q479H	Q	+	3	2	PRAMEF12	12760314	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.035000	0.13797	0.553000	0.29044	0.205000	0.17691	CAG		0.502	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		19	381	1	0	5.3912e-06	1	5.54037e-06	19	381				
USP32	84669	broad.mit.edu	37	17	58422960	58422960	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58422960A>G	ENST00000300896.4	-	2	262	c.68T>C	c.(67-69)gTa>gCa	p.V23A	USP32_ENST00000393003.3_Missense_Mutation_p.V23A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	23					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTTAGCTCTACATCTGTAAC	0.433																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(67-69)gTa>gCa		ubiquitin specific peptidase 32							105.0	95.0	99.0					17																	58422960		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58422960A>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.68T>C	17.37:g.58422960A>G	ENSP00000300896:p.Val23Ala					USP32_ENST00000393003.3_Missense_Mutation_p.V23A	p.V23A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		2	262	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		23					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.68T>C	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	7.100	0.573970	0.13623	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.39997	1.05;1.05	4.93	4.93	0.64822	EF-hand-like domain (1);	0.347798	0.28847	N	0.013949	T	0.30947	0.0781	L	0.38531	1.155	0.40988	D	0.984836	B;B	0.23316	0.083;0.002	B;B	0.19946	0.027;0.002	T	0.10823	-1.0613	10	0.07482	T	0.82	.	14.3196	0.66476	1.0:0.0:0.0:0.0	.	23;23	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	A	23	ENSP00000300896:V23A;ENSP00000376727:V23A	ENSP00000300896:V23A	V	-	2	0	USP32	55777742	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.133000	0.77259	1.867000	0.54127	0.444000	0.29173	GTA		0.433	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		57	281	0	0	0	1	0	57	281				
PHKA2	5256	broad.mit.edu	37	X	18911732	18911732	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911732G>T	ENST00000379942.4	-	33	4244	c.3579C>A	c.(3577-3579)gcC>gcA	p.A1193A	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1193					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGATTCCTGTGGCTTGGTCTT	0.537																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3577-3579)gcC>gcA		phosphorylase kinase, alpha 2 (liver)							158.0	155.0	156.0					X																	18911732		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18911732G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3579C>A	X.37:g.18911732G>T						PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	p.A1193A	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			33	4244	-	Hepatocellular(33;0.183)		1193					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.3579C>A	CCDS14190.1																																																																																				0.537	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		171	655	1	0	1.82853e-86	1	2.34462e-86	171	655				
RIOK3	8780	broad.mit.edu	37	18	21053554	21053554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21053554G>A	ENST00000339486.3	+	8	1594	c.977G>A	c.(976-978)cGc>cAc	p.R326H	RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H|RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	326	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGATCATCCGCATGTGGGCA	0.323																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(976-978)cGc>cAc		RIO kinase 3							60.0	56.0	58.0					18																	21053554		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21053554G>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.977G>A	18.37:g.21053554G>A	ENSP00000341874:p.Arg326His					RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H|RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H	p.R326H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			8	1594	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		326			Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.977G>A	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282646	0.59867	.	.	ENSG00000101782	ENST00000339486	T	0.07567	3.18	5.05	5.05	0.67936	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.35288	1.05	0.80722	D	1	P;P;P	0.44260	0.55;0.796;0.83	B;B;B	0.30943	0.084;0.074;0.122	T	0.32079	-0.9920	10	0.41790	T	0.15	.	18.4658	0.90753	0.0:0.0:1.0:0.0	.	310;326;326	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	H	326	ENSP00000341874:R326H	ENSP00000341874:R326H	R	+	2	0	RIOK3	19307552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.941000	0.87700	2.350000	0.79820	0.579000	0.79373	CGC		0.323	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		38	144	0	0	0	1	0	38	144				
KCNQ2	3785	broad.mit.edu	37	20	62070995	62070995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070995C>T	ENST00000359125.2	-	6	1057	c.883G>A	c.(883-885)Gca>Aca	p.A295T	KCNQ2_ENST00000344462.4_Missense_Mutation_p.A295T|KCNQ2_ENST00000344425.5_Missense_Mutation_p.A295T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000354587.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A295T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	295					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTGAAGGTTGCCGCAAGGAGC	0.632																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(883-885)Gca>Aca		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						214.0	158.0	177.0					20																	62070995		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62070995C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.883G>A	20.37:g.62070995C>T	ENSP00000352035:p.Ala295Thr					KCNQ2_ENST00000359125.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000430658.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000370226.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000370222.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000344462.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000344425.5_Missense_Mutation_p.A295T|KCNQ2_ENST00000370221.1_Missense_Mutation_p.A295T	p.A295T			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1059	-	all_cancers(38;1.24e-11)		295					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.883G>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684165	0.68157	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	4.01	4.01	0.46588	Ion transport (1);	0.141721	0.46145	D	0.000303	D	0.98286	0.9432	L	0.45744	1.44	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.947;0.999;0.997;0.997;0.998	D;P;D;D;D;D	0.79108	0.992;0.837;0.928;0.928;0.946;0.957	D	0.99853	1.1074	10	0.87932	D	0	-20.9394	16.4798	0.84155	0.0:1.0:0.0:0.0	.	295;295;295;295;295;295	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	T	295	ENSP00000349789:A295T;ENSP00000352035:A295T;ENSP00000359246:A295T;ENSP00000346601:A295T;ENSP00000352718:A295T;ENSP00000399612:A295T;ENSP00000353668:A295T;ENSP00000339611:A295T;ENSP00000359244:A295T;ENSP00000359242:A295T;ENSP00000359241:A295T;ENSP00000345523:A295T	ENSP00000345523:A295T	A	-	1	0	KCNQ2	61541439	1.000000	0.71417	0.090000	0.20809	0.101000	0.19017	7.574000	0.82434	1.908000	0.55244	0.561000	0.74099	GCA		0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		89	424	0	0	0	1	0	89	424				
NISCH	11188	broad.mit.edu	37	3	52521339	52521339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521339C>T	ENST00000479054.1	+	17	1903	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	NISCH_ENST00000345716.4_Missense_Mutation_p.R611W			Q9Y2I1	NISCH_HUMAN	nischarin	611	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CACACTGATCCGGCAGGCCAT	0.647																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(1831-1833)Cgg>Tgg		nischarin							72.0	69.0	70.0					3																	52521339		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521339C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1831C>T	3.37:g.52521339C>T	ENSP00000418232:p.Arg611Trp					NISCH_ENST00000479054.1_Missense_Mutation_p.R611W	p.R611W	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	1965	+			611			Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.1831C>T	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712228	0.30322	.	.	ENSG00000010322	ENST00000479054;ENST00000345716	T;T	0.08370	3.1;3.1	5.57	3.62	0.41486	.	0.591513	0.17374	N	0.176564	T	0.09686	0.0238	N	0.19112	0.55	0.30804	N	0.739515	D	0.89917	1.0	P	0.58577	0.841	T	0.10497	-1.0627	10	0.52906	T	0.07	-16.6294	3.0479	0.06160	0.1943:0.5162:0.1954:0.0941	.	611	Q9Y2I1	NISCH_HUMAN	W	611	ENSP00000418232:R611W;ENSP00000339958:R611W	ENSP00000339958:R611W	R	+	1	2	NISCH	52496379	0.980000	0.34600	0.997000	0.53966	0.030000	0.12068	1.052000	0.30429	1.372000	0.46190	-0.145000	0.13849	CGG		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		105	508	0	0	0	1	0	105	508				
NR1H2	7376	broad.mit.edu	37	19	50881936	50881936	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881936C>T	ENST00000253727.5	+	6	865	c.630C>T	c.(628-630)ggC>ggT	p.G210G	NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000593926.1_Silent_p.G210G|NR1H2_ENST00000411902.2_Silent_p.G113G|NR1H2_ENST00000599105.1_Silent_p.G210G|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	210					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCAGCCAGGGCTCCGGGGAAG	0.642																																						ENST00000253727.5																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(628-630)ggC>ggT		nuclear receptor subfamily 1, group H, member 2							34.0	43.0	40.0					19																	50881936		2108	4248	6356	SO:0001819	synonymous_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881936C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.630C>T	19.37:g.50881936C>T						NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000593926.1_Silent_p.G210G|NR1H2_ENST00000599105.1_Silent_p.G210G|NR1H2_ENST00000411902.2_Silent_p.G113G	p.G210G	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	865	+		all_neural(266;0.057)	210					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	c.630C>T	CCDS42593.1																																																																																				0.642	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			40	239	0	0	0	1	0	40	239				
PARVG	64098	broad.mit.edu	37	22	44583713	44583713	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44583713C>T	ENST00000444313.3	+	5	686	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PARVG_ENST00000422871.1_Silent_p.L68L|PARVG_ENST00000415224.1_Silent_p.L68L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	68	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGTCCGCAGCCTGGAGGAGGA	0.602																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(202-204)Ctg>Ttg		parvin, gamma							181.0	135.0	151.0					22																	44583713		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44583713C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.202C>T	22.37:g.44583713C>T						PARVG_ENST00000444313.2_Silent_p.L68L|PARVG_ENST00000415224.1_Silent_p.L68L	p.L68L	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			5	626	+		Ovarian(80;0.024)|all_neural(38;0.0299)	68			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.202C>T	CCDS14057.1																																																																																				0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		57	262	0	0	0	1	0	57	262				
PNN	5411	broad.mit.edu	37	14	39650731	39650731	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650731T>C	ENST00000216832.4	+	9	1885	c.1818T>C	c.(1816-1818)agT>agC	p.S606S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	606	Necessary for interaction with PPIG.|Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		gtcgcagtagttccagtagca	0.512																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1816-1818)agT>agC		pinin, desmosome associated protein							64.0	56.0	59.0					14																	39650731		2200	4299	6499	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650731T>C	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1818T>C	14.37:g.39650731T>C						PNN_ENST00000557680.1_Intron	p.S606S	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1885	+	Hepatocellular(127;0.213)		606			Necessary for interaction with PPIG.|Ser-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.1818T>C	CCDS9671.1																																																																																				0.512	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		11	73	0	0	0	1	0	11	73				
UBE3D	90025	broad.mit.edu	37	6	83754249	83754249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83754249G>T	ENST00000369747.3	-	4	617	c.495C>A	c.(493-495)gaC>gaA	p.D165E		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	165					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										AGAAGAAAGAGTCTCCAATAA	0.428																																						ENST00000369747.3																			0											c.(493-495)gaC>gaA		ubiquitin protein ligase E3D							135.0	147.0	143.0					6																	83754249		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83754249G>T	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.495C>A	6.37:g.83754249G>T	ENSP00000358762:p.Asp165Glu						p.D165E	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN			4	617	-			165					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.495C>A	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751081	0.69533	.	.	ENSG00000118420	ENST00000369747	T	0.32272	1.46	5.63	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.74258	2.255	0.80722	D	1	D;D	0.71674	0.998;0.957	D;P	0.67725	0.953;0.545	T	0.24476	-1.0159	10	0.16420	T	0.52	-3.3466	11.6588	0.51334	0.1862:0.0:0.8138:0.0	.	165;165	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	E	165	ENSP00000358762:D165E	ENSP00000358762:D165E	D	-	3	2	UBE2CBP	83810968	1.000000	0.71417	0.959000	0.39883	0.946000	0.59487	1.037000	0.30241	0.305000	0.22832	0.655000	0.94253	GAC		0.428	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		134	586	1	0	1.31343e-73	1	1.67213e-73	134	586				
ADAM20	8748	broad.mit.edu	37	14	70991330	70991330	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70991330T>G	ENST00000256389.3	-	2	539	c.295A>C	c.(295-297)Atc>Ctc	p.I99L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	49					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCTGCTGATCACCTTCAAA	0.517																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(295-297)Atc>Ctc		ADAM metallopeptidase domain 20							81.0	73.0	76.0					14																	70991330		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991330T>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.295A>C	14.37:g.70991330T>G	ENSP00000256389:p.Ile99Leu					RP11-486O13.4_ENST00000556646.1_lincRNA	p.I99L	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	539	-			49					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.295A>C	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	8.508	0.865782	0.17250	.	.	ENSG00000134007	ENST00000256389	T	0.05649	3.41	4.14	0.241	0.15494	Peptidase M12B, propeptide (1);	0.390677	0.17933	U	0.157114	T	0.04588	0.0125	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.33752	-0.9856	10	0.66056	D	0.02	.	6.0527	0.19794	0.0:0.0836:0.3142:0.6021	.	49	O43506	ADA20_HUMAN	L	99	ENSP00000256389:I99L	ENSP00000256389:I99L	I	-	1	0	ADAM20	70061083	0.000000	0.05858	0.075000	0.20258	0.177000	0.22998	-0.244000	0.08903	-0.048000	0.13401	0.528000	0.53228	ATC		0.517	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			84	286	0	0	0	1	0	84	286				
MRPS2	51116	broad.mit.edu	37	9	138395463	138395463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395463C>T	ENST00000371785.1	+	5	584	c.375C>T	c.(373-375)ctC>ctT	p.L125L	MRPS2_ENST00000241600.5_Silent_p.L125L|C9orf116_ENST00000371791.1_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	125					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCACGCACCTCCAGCTGGCCT	0.567																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(373-375)ctC>ctT		mitochondrial ribosomal protein S2							118.0	88.0	98.0					9																	138395463		2203	4300	6503	SO:0001819	synonymous_variant	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395463C>T	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.375C>T	9.37:g.138395463C>T						MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.L125L|RP11-426A6.5_ENST00000415062.1_RNA	p.L125L			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	584	+			125					Q5T899|Q9BSQ4	Silent	SNP	ENST00000371785.1	37	c.375C>T	CCDS6990.1																																																																																				0.567	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			36	267	0	0	0	1	0	36	267				
ZNF573	126231	broad.mit.edu	37	19	38229915	38229915	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229915A>G	ENST00000590414.2	-	4	1497	c.1476T>C	c.(1474-1476)caT>caC	p.H492H	ZNF573_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000536220.1_Silent_p.H404H|ZNF573_ENST00000339503.4_Silent_p.H434H			Q86YE8	ZN573_HUMAN	zinc finger protein 573	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTCACCAGTATGAGTTTTCC	0.378																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1300-1302)caT>caC		zinc finger protein 573							80.0	79.0	80.0					19																	38229915		2203	4300	6503	SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229915A>G	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1476T>C	19.37:g.38229915A>G						ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000590414.2_Silent_p.H492H|ZNF573_ENST00000536220.1_Silent_p.H404H	p.H434H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1803	-			472					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.1302T>C	CCDS59381.1																																																																																				0.378	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		83	373	0	0	0	1	0	83	373				
CRB1	23418	broad.mit.edu	37	1	197297570	197297570	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297570A>C	ENST00000367400.3	+	2	224	c.89A>C	c.(88-90)aAc>aCc	p.N30T	CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.N30T|CRB1_ENST00000538660.1_Missense_Mutation_p.N30T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	30	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAATAAAAACAACACCAGG	0.313																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(88-90)aAc>aCc		crumbs homolog 1 (Drosophila)							43.0	43.0	43.0					1																	197297570		2198	4300	6498	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297570A>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.89A>C	1.37:g.197297570A>C	ENSP00000356370:p.Asn30Thr					CRB1_ENST00000538660.1_Missense_Mutation_p.N30T|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.N30T	p.N30T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	224	+			30			EGF-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.89A>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259173	0.39995	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.91996	-2.95;-1.72;-2.17	5.52	5.52	0.82312	Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94961	0.8370	L	0.60957	1.885	0.80722	D	1	D;B;D;D	0.69078	0.997;0.066;0.997;0.996	D;B;D;P	0.77004	0.989;0.099;0.989;0.815	D	0.95103	0.8232	9	0.56958	D	0.05	.	15.9458	0.79792	1.0:0.0:0.0:0.0	.	30;30;30;55	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	T	30	ENSP00000438091:N30T;ENSP00000356370:N30T;ENSP00000356369:N30T	ENSP00000356369:N30T	N	+	2	0	CRB1	195564193	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	6.234000	0.72326	2.216000	0.71823	0.533000	0.62120	AAC		0.313	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		54	196	0	0	0	1	0	54	196				
NANOGP1	404635	broad.mit.edu	37	12	8050873	8050873	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8050873T>C	ENST00000607111.1	+	0	276							Q8N7R0	NANG2_HUMAN	Nanog homeobox pseudogene 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|lung(4)|prostate(1)	6						gaagacctggttccagaacca	0.368																																						ENST00000607111.1																			0				kidney(1)|lung(4)|prostate(1)	6																																														0							g.chr12:8050873T>C	AY455283		12p13.31	2014-03-20			ENSG00000176654	ENSG00000176654		"""Homeoboxes / ANTP class : NKL subclass"""	23099	pseudogene	pseudogene						15108323, 15233988	Standard	NG_006522		Approved	NANOG2	uc001qtp.1	Q8N7R0	OTTHUMG00000166020		12.37:g.8050873T>C														0	276	+									RNA	SNP	ENST00000607111.1	37			.	.	.	.	.	.	.	.	.	.	T	14.97	2.695816	0.48202	.	.	ENSG00000176654	ENST00000530989;ENST00000525030	.	.	.	1.92	1.92	0.25849	.	0.078110	0.52532	D	0.000061	T	0.32466	0.0830	.	.	.	0.26786	N	0.969505	B	0.25486	0.127	B	0.32805	0.153	T	0.32052	-0.9921	8	0.87932	D	0	-33.248	5.9814	0.19409	0.0:0.0:0.0:1.0	.	86	E9PQ94	.	L	86;104	.	ENSP00000435164:F104L	F	+	1	0	NANOGP1	7942140	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	1.781000	0.38644	1.169000	0.42739	0.113000	0.15668	TTC		0.368	NANOGP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470953.1			9	64	0	0	0	1	0	9	64				
CACTIN	58509	broad.mit.edu	37	19	3624041	3624041	+	Missense_Mutation	SNP	C	C	T	rs538539255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3624041C>T	ENST00000429344.2	-	2	339	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	CACTIN_ENST00000248420.5_Missense_Mutation_p.R96Q|CACTIN_ENST00000221899.3_Missense_Mutation_p.R28Q	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	96					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CCACTGGCCCCGTGACTGCTC	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		14363	0.001		0.0	False		,,,				2504	0.0					ENST00000429344.2																			0											c.(286-288)cGg>cAg		cactin, spliceosome C complex subunit							27.0	34.0	32.0					19																	3624041		1994	4117	6111	SO:0001583	missense	58509							g.chr19:3624041C>T	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.287G>A	19.37:g.3624041C>T	ENSP00000415078:p.Arg96Gln					CACTIN_ENST00000221899.3_Missense_Mutation_p.R28Q|CACTIN_ENST00000248420.5_Missense_Mutation_p.R96Q	p.R96Q	NM_001080543.1	NP_001074012.1					2	339	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.287G>A	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741046	0.49151	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.81	-1.25	0.09405	.	4.021300	0.02021	N	0.047798	T	0.19005	0.0456	N	0.03115	-0.41	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24404	-1.0161	9	0.45353	T	0.12	.	8.1263	0.31001	0.0:0.5735:0.0:0.4265	.	96	Q8WUQ7	CS029_HUMAN	Q	96;96;28	.	ENSP00000221899:R28Q	R	-	2	0	C19orf29	3575041	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.589000	0.05767	-0.404000	0.07610	0.561000	0.74099	CGG		0.711	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			81	309	0	0	0	1	0	81	309				
ARHGAP31	57514	broad.mit.edu	37	3	119132980	119132980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119132980G>A	ENST00000264245.4	+	12	2736	c.2204G>A	c.(2203-2205)aGc>aAc	p.S735N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	735	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACAGCAGCCAGCAGAGAGAAG	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2203-2205)aGc>aAc		Rho GTPase activating protein 31							54.0	59.0	57.0					3																	119132980		1965	4147	6112	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119132980G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2204G>A	3.37:g.119132980G>A	ENSP00000264245:p.Ser735Asn						p.S735N	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	2736	+			735			Pro-rich.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2204G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	2.576	-0.298530	0.05532	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06218	3.33	5.3	-5.78	0.02362	.	0.804525	0.11439	N	0.564024	T	0.01695	0.0054	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49113	-0.8973	10	0.11485	T	0.65	.	9.6946	0.40150	0.2901:0.0:0.5885:0.1214	.	735	Q2M1Z3	RHG31_HUMAN	N	735	ENSP00000264245:S735N	ENSP00000264245:S735N	S	+	2	0	ARHGAP31	120615670	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.413000	0.07123	-0.783000	0.04534	-0.290000	0.09829	AGC		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			95	407	0	0	0	1	0	95	407				
ELMO1	9844	broad.mit.edu	37	7	37264604	37264604	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37264604T>A	ENST00000310758.4	-	9	1228	c.581A>T	c.(580-582)gAc>gTc	p.D194V	ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V|ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	194					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCGAGATGTCTATGGCTGA	0.502																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(580-582)gAc>gTc		engulfment and cell motility 1							105.0	90.0	95.0					7																	37264604		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37264604T>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.581A>T	7.37:g.37264604T>A	ENSP00000312185:p.Asp194Val					ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V|ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V	p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			9	1228	-			194					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.581A>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627058	0.87560	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.56275	0.47;0.47;0.47	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.76926	-0.2778	10	0.72032	D	0.01	.	15.7355	0.77839	0.0:0.0:0.0:1.0	.	194	Q92556	ELMO1_HUMAN	V	194;98;194;194	ENSP00000312185:D194V;ENSP00000406952:D194V;ENSP00000394458:D194V	ENSP00000312185:D194V	D	-	2	0	ELMO1	37231129	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	8.036000	0.88901	2.175000	0.68902	0.533000	0.62120	GAC		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		34	182	0	0	0	1	0	34	182				
ZFHX4	79776	broad.mit.edu	37	8	77766811	77766811	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77766811C>A	ENST00000521891.2	+	10	8102	c.7654C>A	c.(7654-7656)Ctg>Atg	p.L2552M	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGACAACTGCTGGGCAGTTC	0.517										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7654-7656)Ctg>Atg		zinc finger homeobox 4							96.0	95.0	95.0					8																	77766811		1956	4140	6096	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766811C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7654C>A	8.37:g.77766811C>A	ENSP00000430497:p.Leu2552Met	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M	p.L2552M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8102	+			2507					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7654C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885405	0.33255	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58358	0.34;0.4;0.37;0.37	5.38	5.38	0.77491	.	0.000000	0.36628	U	0.002491	T	0.72748	0.3499	M	0.71581	2.175	0.54753	D	0.999984	D;D;P	0.69078	0.994;0.997;0.864	D;D;P	0.75484	0.98;0.986;0.706	T	0.72204	-0.4361	10	0.49607	T	0.09	.	19.3233	0.94252	0.0:1.0:0.0:0.0	.	2507;2507;2552	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	2552;2536;2507;2507;2526	ENSP00000430497:L2552M;ENSP00000399605:L2507M;ENSP00000050961:L2507M;ENSP00000430848:L2526M	ENSP00000050961:L2507M	L	+	1	2	ZFHX4	77929366	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.780000	0.68956	2.791000	0.96007	0.650000	0.86243	CTG		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	479	1	0	4.3838e-07	1	4.54049e-07	13	479				
OR2T3	343173	broad.mit.edu	37	1	248636985	248636985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248636985C>A	ENST00000359594.2	+	1	359	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTACCTGACCCTGGCTGGAGC	0.552																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(334-336)Ctg>Atg		olfactory receptor, family 2, subfamily T, member 3							129.0	117.0	121.0					1																	248636985		2194	4298	6492	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636985C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.334C>A	1.37:g.248636985C>A	ENSP00000352604:p.Leu112Met						p.L112M	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	359	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		112					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.334C>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457406	0.43634	.	.	ENSG00000196539	ENST00000359594	T	0.02525	4.26	2.22	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09069	0.0224	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01316	-1.1387	9	0.54805	T	0.06	.	4.5458	0.12079	0.5484:0.258:0.0:0.1936	.	112	Q8NH03	OR2T3_HUMAN	M	112	ENSP00000352604:L112M	ENSP00000352604:L112M	L	+	1	2	OR2T3	246703608	0.000000	0.05858	0.000000	0.03702	0.663000	0.39108	-5.284000	0.00135	-1.852000	0.01166	0.186000	0.17326	CTG		0.552	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		63	378	1	0	1.72039e-30	1	2.01868e-30	63	378				
ATP2A3	489	broad.mit.edu	37	17	3844772	3844772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3844772C>T	ENST00000352011.3	-	13	1776	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ATP2A3_ENST00000359983.3_Silent_p.E574E|ATP2A3_ENST00000309890.7_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.E574E			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	574					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTCCATGTCCTCCTTCCTTG	0.642																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1720-1722)gaG>gaA		ATPase, Ca++ transporting, ubiquitous							99.0	95.0	96.0					17																	3844772		2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844772C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1722G>A	17.37:g.3844772C>T						ATP2A3_ENST00000359983.3_Silent_p.E574E|ATP2A3_ENST00000397035.3_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000352011.3_Silent_p.E574E	p.E574E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1872	-			574					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.1722G>A	CCDS11041.1																																																																																				0.642	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		123	600	0	0	0	1	0	123	600				
EPHA1	2041	broad.mit.edu	37	7	143096798	143096798	+	Missense_Mutation	SNP	G	G	A	rs140233341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143096798G>A	ENST00000275815.3	-	4	867	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	261	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGTGGCACCGTCCTACAGGC	0.657																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(781-783)Cgg>Tgg		EPH receptor A1		G	TRP/ARG	3,4403	4.2+/-10.8	0,3,2200	39.0	43.0	42.0		781	2.2	0.0	7	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPHA1	NM_005232.4	101	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	261/977	143096798	4,13002	2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096798G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.781C>T	7.37:g.143096798G>A	ENSP00000275815:p.Arg261Trp						p.R261W	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	867	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	261			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.781C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288654	0.59976	6.81E-4	1.16E-4	ENSG00000146904	ENST00000275815	D	0.97430	-4.38	5.22	2.17	0.27698	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.651298	0.14092	N	0.341931	D	0.96306	0.8795	M	0.78916	2.43	0.09310	N	1	D	0.61697	0.99	B	0.43623	0.425	D	0.90797	0.4691	10	0.87932	D	0	.	13.8135	0.63276	0.0:0.0:0.4721:0.5279	.	261	P21709	EPHA1_HUMAN	W	261	ENSP00000275815:R261W	ENSP00000275815:R261W	R	-	1	2	EPHA1	142806920	0.258000	0.24033	0.046000	0.18839	0.924000	0.55760	3.072000	0.50049	0.697000	0.31718	0.655000	0.94253	CGG		0.657	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			68	271	0	0	0	1	0	68	271				
CD59	966	broad.mit.edu	37	11	33739011	33739011	+	Missense_Mutation	SNP	C	C	A	rs547970318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33739011C>A	ENST00000395850.3	-	3	149	c.74G>T	c.(73-75)aGc>aTc	p.S25I	CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000533403.1_Missense_Mutation_p.S25I|CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000426650.2_Missense_Mutation_p.S25I	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	25					blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						GCACTGCAGGCTATGACCTAG	0.473																																						ENST00000395850.3																			0				endometrium(1)|lung(2)	3						c.(73-75)aGc>aTc		CD59 molecule, complement regulatory protein							94.0	83.0	86.0					11																	33739011		2202	4298	6500	SO:0001583	missense	966				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		g.chr11:33739011C>A		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.74G>T	11.37:g.33739011C>A	ENSP00000379191:p.Ser25Ile					CD59_ENST00000426650.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I|CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000533403.1_Missense_Mutation_p.S25I	p.S25I	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN			3	149	-			25						Missense_Mutation	SNP	ENST00000395850.3	37	c.74G>T	CCDS7886.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259715	0.59321	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;D	0.94650	-3.41;-3.48;-1.61	3.99	2.04	0.26737	.	0.707573	0.14322	N	0.326929	D	0.95909	0.8668	M	0.78049	2.395	0.09310	N	1	D;D	0.65815	0.995;0.985	P;P	0.59221	0.854;0.832	D	0.89626	0.3852	10	0.87932	D	0	-1.362	10.224	0.43214	0.0:0.6059:0.3941:0.0	.	25;25	E9PI80;P13987	.;CD59_HUMAN	I	25	ENSP00000432362:S25I;ENSP00000437122:S25I;ENSP00000436737:S25I	ENSP00000340210:S25I	S	-	2	0	CD59	33695587	0.008000	0.16893	0.053000	0.19242	0.344000	0.29017	0.941000	0.29005	0.603000	0.29913	0.561000	0.74099	AGC		0.473	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	NM_203329		15	100	1	0	1.99824e-07	1	2.07512e-07	15	100				
CHDH	55349	broad.mit.edu	37	3	53853618	53853618	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53853618A>C	ENST00000315251.6	-	7	1641	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	402					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GATGGCAGGAAATGGAACTGG	0.627																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1204-1206)Ttc>Gtc		choline dehydrogenase	Choline(DB00122)						69.0	74.0	72.0					3																	53853618		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53853618A>C	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1204T>G	3.37:g.53853618A>C	ENSP00000319851:p.Phe402Val						p.F402V	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	7	1641	-		Hepatocellular(537;0.152)	402					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.1204T>G	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744510	0.89663	.	.	ENSG00000016391	ENST00000315251	T	0.46819	0.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.84585	2.705	0.80722	D	1	P	0.52316	0.952	P	0.55965	0.788	T	0.74426	-0.3669	10	0.87932	D	0	-31.5137	15.4005	0.74838	1.0:0.0:0.0:0.0	.	402	Q8NE62	CHDH_HUMAN	V	402	ENSP00000319851:F402V	ENSP00000319851:F402V	F	-	1	0	CHDH	53828658	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.943000	0.92975	2.063000	0.61619	0.460000	0.39030	TTC		0.627	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		81	291	0	0	0	1	0	81	291				
LIMA1	51474	broad.mit.edu	37	12	50575758	50575758	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575758C>T	ENST00000341247.4	-	10	1352	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000547825.1_Silent_p.E99E|LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000552823.1_Silent_p.E241E|LIMA1_ENST00000552491.1_Silent_p.E98E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	401	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAAGAGACGCTCCATTGGAT	0.483																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(295-297)gaG>gaA		LIM domain and actin binding 1							106.0	97.0	100.0					12																	50575758		2203	4300	6503	SO:0001819	synonymous_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50575758C>T	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1203G>A	12.37:g.50575758C>T						LIMA1_ENST00000552491.1_Silent_p.E98E|LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000341247.4_Silent_p.E401E|LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552823.1_Silent_p.E241E	p.E99E	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			4	1566	-			401					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	c.297G>A	CCDS8802.1																																																																																				0.483	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		28	331	0	0	0	1	0	28	331				
ZAP70	7535	broad.mit.edu	37	2	98354262	98354262	+	Missense_Mutation	SNP	G	G	A	rs550812644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98354262G>A	ENST00000264972.5	+	12	1740	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	509	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GTACGCACCCGAATGCATCAA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17694	0.0		0.0	False		,,,				2504	0.001					ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1525-1527)Gaa>Aaa		zeta-chain (TCR) associated protein kinase 70kDa							118.0	126.0	123.0					2																	98354262		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354262G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1525G>A	2.37:g.98354262G>A	ENSP00000264972:p.Glu509Lys					ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K|ZAP70_ENST00000463643.1_3'UTR	p.E509K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			12	1740	+			509			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1525G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512702	0.96402	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.84370	-1.84;-1.84;-1.84	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000170	D	0.96081	0.8723	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97885	1.0294	10	0.87932	D	0	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	383;509	P43403-3;P43403	.;ZAP70_HUMAN	K	509;383;202	ENSP00000264972:E509K;ENSP00000411141:E383K;ENSP00000400475:E202K	ENSP00000264972:E509K	E	+	1	0	ZAP70	97720694	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	7.956000	0.87863	2.610000	0.88304	0.655000	0.94253	GAA		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			194	952	0	0	0	1	0	194	952				
ASIC4	55515	broad.mit.edu	37	2	220379804	220379804	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379804A>G	ENST00000347842.3	+	1	753	c.739A>G	c.(739-741)Atc>Gtc	p.I247V	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.I247V	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	247					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CCTCTGCAATATCAACCGCTT	0.682																																						ENST00000358078.4																			0											c.(739-741)Atc>Gtc		acid-sensing (proton-gated) ion channel family member 4							30.0	30.0	30.0					2																	220379804		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379804A>G	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.739A>G	2.37:g.220379804A>G	ENSP00000326627:p.Ile247Val					ASIC4_ENST00000347842.3_Missense_Mutation_p.I247V|AC053503.11_ENST00000429882.1_RNA	p.I247V			Q96FT7	ACCN4_HUMAN			1	753	+			247					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.739A>G	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627432	0.28978	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.62788	0.0;0.0	4.69	4.69	0.59074	.	0.133241	0.49916	D	0.000138	T	0.44912	0.1316	N	0.20807	0.61	0.41643	D	0.989084	B;B;B	0.28026	0.129;0.198;0.106	B;B;B	0.29862	0.07;0.108;0.042	T	0.40683	-0.9550	10	0.30078	T	0.28	-18.4194	9.428	0.38592	0.8414:0.0:0.0:0.1585	.	247;247;247	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	V	247	ENSP00000326627:I247V;ENSP00000350786:I247V	ENSP00000326627:I247V	I	+	1	0	ACCN4	220088048	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.492000	0.53259	1.969000	0.57287	0.533000	0.62120	ATC		0.682	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		20	336	0	0	0	1	0	20	336				
SPTBN4	57731	broad.mit.edu	37	19	41008410	41008410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41008410A>G	ENST00000352632.3	+	10	1285	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D400G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	400					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGATATTGACAAGGTGAGG	0.562																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1198-1200)gAc>gGc		spectrin, beta, non-erythrocytic 4							57.0	61.0	60.0					19																	41008410		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008410A>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1199A>G	19.37:g.41008410A>G	ENSP00000263373:p.Asp400Gly					SPTBN4_ENST00000598249.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D400G	p.D400G			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		10	1285	+			400					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1199A>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746265	0.49257	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.68624	-0.34;-0.34;-0.34	3.54	3.54	0.40534	.	0.216512	0.30890	U	0.008677	T	0.61160	0.2325	L	0.34521	1.04	0.80722	D	1	P;P	0.46621	0.881;0.702	P;B	0.47864	0.559;0.283	T	0.65195	-0.6227	10	0.56958	D	0.05	.	12.0093	0.53278	1.0:0.0:0.0:0.0	.	400;400	Q9H254;Q71S06	SPTN4_HUMAN;.	G	400	ENSP00000263373:D400G;ENSP00000340345:D400G;ENSP00000340741:D400G	ENSP00000340345:D400G	D	+	2	0	SPTBN4	45700250	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.989000	0.93506	1.851000	0.53745	0.460000	0.39030	GAC		0.562	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			16	339	0	0	0	1	0	16	339				
NRN1	51299	broad.mit.edu	37	6	6006979	6006979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6006979C>A	ENST00000244766.2	-	1	221	c.4G>T	c.(4-6)Gga>Tga	p.G2*		NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	2					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		AACTTAAGTCCCATCCTACGT	0.507																																						ENST00000244766.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(4-6)Gga>Tga		neuritin 1							96.0	93.0	94.0					6																	6006979		2203	4300	6503	SO:0001587	stop_gained	51299					anchored to membrane|plasma membrane		g.chr6:6006979C>A	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.4G>T	6.37:g.6006979C>A	ENSP00000244766:p.Gly2*						p.G2*	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	1	221	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	2					B2RA93|Q7Z4Y1	Nonsense_Mutation	SNP	ENST00000244766.2	37	c.4G>T	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	C	39	7.833904	0.98516	.	.	ENSG00000124785	ENST00000244766	.	.	.	5.01	5.01	0.66863	.	0.144801	0.45867	D	0.000328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9803	17.2894	0.87150	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000244766:G2X	G	-	1	0	NRN1	5951978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.873000	0.69644	2.333000	0.79357	0.561000	0.74099	GGA		0.507	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			11	585	1	0	2.27111e-07	1	2.35674e-07	11	585				
SLC5A5	6528	broad.mit.edu	37	19	17988625	17988625	+	Silent	SNP	G	G	A	rs148887708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988625G>A	ENST00000222248.3	+	6	1139	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	264					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGAACCAGGCGCAGGTGCAGC	0.607																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(790-792)gcG>gcA		solute carrier family 5 (sodium/iodide cotransporter), member 5							151.0	125.0	134.0					19																	17988625		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17988625G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.792G>A	19.37:g.17988625G>A							p.A264A	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			6	1139	+			264					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.792G>A	CCDS12368.1																																																																																				0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			100	454	0	0	0	1	0	100	454				
DYNC1H1	1778	broad.mit.edu	37	14	102493837	102493837	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493837T>C	ENST00000360184.4	+	46	9168	c.9004T>C	c.(9004-9006)Tct>Cct	p.S3002P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3002	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTGTTAGATTCTGGATTCCT	0.433																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(9004-9006)Tct>Cct		dynein, cytoplasmic 1, heavy chain 1							120.0	115.0	116.0					14																	102493837		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102493837T>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9004T>C	14.37:g.102493837T>C	ENSP00000348965:p.Ser3002Pro						p.S3002P	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			46	9168	+			3002			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9004T>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653962	0.67472	.	.	ENSG00000197102	ENST00000360184	T	0.43294	0.95	5.7	5.7	0.88788	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.120080	0.64402	D	0.000015	T	0.50922	0.1644	L	0.39085	1.19	0.80722	D	1	D	0.53462	0.96	P	0.58077	0.832	T	0.49978	-0.8881	10	0.51188	T	0.08	.	15.961	0.79930	0.0:0.0:0.0:1.0	.	3002	Q14204	DYHC1_HUMAN	P	3002	ENSP00000348965:S3002P	ENSP00000348965:S3002P	S	+	1	0	DYNC1H1	101563590	1.000000	0.71417	0.899000	0.35326	0.951000	0.60555	7.755000	0.85180	2.168000	0.68352	0.491000	0.48974	TCT		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		103	486	0	0	0	1	0	103	486				
SH3RF3	344558	broad.mit.edu	37	2	110036048	110036048	+	Silent	SNP	G	G	A	rs373793838		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110036048G>A	ENST00000309415.6	+	5	1353	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	451							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGGCTGCCTCGGTGTCTGGAG	0.642																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1351-1353)tcG>tcA		SH3 domain containing ring finger 3							30.0	35.0	33.0					2																	110036048		2055	4205	6260	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110036048G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1353G>A	2.37:g.110036048G>A							p.S451S	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			5	1353	+			451					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1353G>A																																																																																					0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		4	43	0	0	0	1	0	4	43				
CCR2	729230	broad.mit.edu	37	3	46399102	46399102	+	Silent	SNP	C	C	T	rs201767110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46399102C>T	ENST00000400888.2	+	1	123	c.84C>T	c.(82-84)taC>taT	p.Y28Y	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000292301.4_Silent_p.Y28Y			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	28					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATTATGATTACGGTGCTCCCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20632	0.001		0.0	False		,,,				2504	0.0					ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(82-84)taC>taT		chemokine (C-C motif) receptor 2							190.0	170.0	176.0					3																	46399102		1568	3582	5150	SO:0001819	synonymous_variant	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399102C>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.84C>T	3.37:g.46399102C>T						CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000400888.2_Silent_p.Y28Y	p.Y28Y	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	569	+			28					A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	ENST00000400888.2	37	c.84C>T	CCDS43078.1																																																																																				0.478	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		109	525	0	0	0	1	0	109	525				
CCDC88C	440193	broad.mit.edu	37	14	91763825	91763825	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91763825G>T	ENST00000389857.6	-	22	3876	c.3790C>A	c.(3790-3792)Ctg>Atg	p.L1264M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1264					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGTGGTGCAGGAAATTGACC	0.587																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3790-3792)Ctg>Atg		coiled-coil domain containing 88C							34.0	35.0	35.0					14																	91763825		2084	4177	6261	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91763825G>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3790C>A	14.37:g.91763825G>T	ENSP00000374507:p.Leu1264Met						p.L1264M	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			22	3876	-		all_cancers(154;0.0468)	1264					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3790C>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426943	0.43122	.	.	ENSG00000015133	ENST00000389857	T	0.15139	2.45	5.34	5.34	0.76211	.	0.234286	0.22159	U	0.063819	T	0.16727	0.0402	L	0.48362	1.52	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.01541	-1.1329	10	0.49607	T	0.09	-18.6969	10.2314	0.43258	0.1216:0.0:0.8784:0.0	.	1264	Q9P219	DAPLE_HUMAN	M	1264	ENSP00000374507:L1264M	ENSP00000374507:L1264M	L	-	1	2	CCDC88C	90833578	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.864000	0.39469	2.513000	0.84729	0.609000	0.83330	CTG		0.587	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		7	18	1	0	8.12818e-05	1	8.2724e-05	7	18				
AGTPBP1	23287	broad.mit.edu	37	9	88292495	88292495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88292495C>A	ENST00000357081.3	-	6	436	c.292G>T	c.(292-294)Gga>Tga	p.G98*	AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.G150*|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	98					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTCGACCTCCACCtaaaaat	0.299																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(292-294)Gga>Tga		ATP/GTP binding protein 1							67.0	67.0	67.0					9																	88292495		2203	4300	6503	SO:0001587	stop_gained	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88292495C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.292G>T	9.37:g.88292495C>A	ENSP00000349592:p.Gly98*					AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.G150*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.G98*	p.G98*			Q9UPW5	CBPC1_HUMAN			6	436	-			98					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	ENST00000357081.3	37	c.292G>T		.	.	.	.	.	.	.	.	.	.	C	32	5.141000	0.94560	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081;ENST00000376080	.	.	.	5.63	5.63	0.86233	.	0.147635	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.8019	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	40;98;98;150;98;40	.	ENSP00000338512:G40X	G	-	1	0	AGTPBP1	87482315	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.259000	0.65485	2.798000	0.96311	0.655000	0.94253	GGA		0.299	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		24	330	1	0	2.52088e-20	1	2.82337e-20	24	330				
CREB3L3	84699	broad.mit.edu	37	19	4153764	4153764	+	Missense_Mutation	SNP	C	C	T	rs199572730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4153764C>T	ENST00000078445.2	+	1	167	c.20C>T	c.(19-21)gCt>gTt	p.A7V	CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	7					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GATTTAGCTGCTGGAAAGGTG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16129	0.0		0.0	False		,,,				2504	0.0					ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(19-21)gCt>gTt		cAMP responsive element binding protein 3-like 3		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	115.0	88.0	97.0		20	2.2	0.0	19		97	0,8600		0,0,4300	no	missense	CREB3L3	NM_032607.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	7/462	4153764	1,13005	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4153764C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.20C>T	19.37:g.4153764C>T	ENSP00000078445:p.Ala7Val					CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V	p.A7V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	1	167	+			7					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.20C>T	CCDS12121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.81	2.048461	0.36181	2.27E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.83591	-1.74	4.51	2.21	0.28008	.	1.054720	0.07391	N	0.889091	T	0.75781	0.3896	L	0.44542	1.39	0.21762	N	0.99955	B	0.17038	0.02	B	0.12156	0.007	T	0.58267	-0.7666	10	0.29301	T	0.29	-16.9793	6.8451	0.23984	0.0:0.7632:0.0:0.2368	.	7	Q68CJ9	CR3L3_HUMAN	V	7	ENSP00000078445:A7V	ENSP00000078445:A7V	A	+	2	0	CREB3L3	4104764	0.000000	0.05858	0.007000	0.13788	0.131000	0.20780	0.083000	0.14871	0.380000	0.24823	0.485000	0.47835	GCT		0.612	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		21	147	0	0	0	1	0	21	147				
PPRC1	23082	broad.mit.edu	37	10	103908623	103908623	+	Missense_Mutation	SNP	G	G	A	rs370946381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908623G>A	ENST00000278070.2	+	12	4706	c.4667G>A	c.(4666-4668)cGa>cAa	p.R1556Q	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1556	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCATGACTCGATCAGAGCTG	0.488																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4666-4668)cGa>cAa		peroxisome proliferator-activated receptor gamma, coactivator-related 1		G	GLN/ARG	0,4406		0,0,2203	89.0	87.0	88.0		4667	5.7	1.0	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPRC1	NM_015062.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1556/1665	103908623	1,13005	2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908623G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4667G>A	10.37:g.103908623G>A	ENSP00000278070:p.Arg1556Gln					PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q	p.R1556Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	12	4706	+		Colorectal(252;0.122)	1556			RRM.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4667G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291454	0.80914	0.0	1.16E-4	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.15256	2.44;2.44;2.44	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055167	0.64402	D	0.000001	T	0.28532	0.0706	L	0.27053	0.805	0.28658	N	0.906283	D;D;P	0.64830	0.99;0.994;0.915	D;P;P	0.64595	0.927;0.737;0.48	T	0.03910	-1.0993	10	0.56958	D	0.05	.	16.1782	0.81884	0.0:0.1331:0.8669:0.0	.	1292;1434;1556	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	1556;1292;523	ENSP00000278070:R1556Q;ENSP00000399743:R1292Q;ENSP00000359029:R523Q	ENSP00000278070:R1556Q	R	+	2	0	PPRC1	103898613	0.954000	0.32549	1.000000	0.80357	0.993000	0.82548	4.277000	0.58939	2.704000	0.92352	0.549000	0.68633	CGA		0.488	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		43	234	0	0	0	1	0	43	234				
HPS4	89781	broad.mit.edu	37	22	26859939	26859939	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26859939G>T	ENST00000398145.2	-	11	2273	c.1657C>A	c.(1657-1659)Ctg>Atg	p.L553M	HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Missense_Mutation_p.L548M	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	553					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGCAGGGACAGCACCAGCCCT	0.617									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1657-1659)Ctg>Atg		Hermansky-Pudlak syndrome 4							59.0	53.0	55.0					22																	26859939		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26859939G>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1657C>A	22.37:g.26859939G>T	ENSP00000381213:p.Leu553Met					HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000402105.3_Missense_Mutation_p.L548M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M|HPS4_ENST00000493455.2_5'UTR	p.L553M	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	2273	-			553					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1657C>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407513	0.62399	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.27	4.25	0.50352	.	0.000000	0.64402	D	0.000007	T	0.47893	0.1470	M	0.77103	2.36	0.30626	N	0.758025	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	0.999;0.999;0.999;0.999;1.0;0.999	T	0.52601	-0.8554	10	0.87932	D	0	-12.515	8.5227	0.33287	0.176:0.0:0.824:0.0	.	553;553;553;553;566;548	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	M	553;566;548;553	ENSP00000381213:L553M;ENSP00000381210:L566M;ENSP00000384185:L548M;ENSP00000338457:L553M	ENSP00000338457:L553M	L	-	1	2	HPS4	25189939	1.000000	0.71417	0.999000	0.59377	0.673000	0.39480	2.519000	0.45546	2.461000	0.83175	0.655000	0.94253	CTG		0.617	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		9	269	1	0	0.00621372	1	0.0062537	9	269				
STON2	85439	broad.mit.edu	37	14	81862432	81862432	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81862432G>T	ENST00000267540.2	-	2	379	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	STON2_ENST00000555447.1_Missense_Mutation_p.S60Y	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	60					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGTCTTGAGAGCCTCCATC	0.602																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(178-180)tCt>tAt		stonin 2							79.0	72.0	74.0					14																	81862432		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81862432G>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.179C>A	14.37:g.81862432G>T	ENSP00000267540:p.Ser60Tyr					STON2_ENST00000267540.2_Missense_Mutation_p.S60Y	p.S60Y	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	591	-			60					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.179C>A	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108371	0.37242	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	D;D	0.82081	-1.57;-1.57	5.82	5.82	0.92795	Stonin-2, N-terminal (1);	0.399278	0.26126	N	0.026196	T	0.80768	0.4686	L	0.56769	1.78	0.30386	N	0.781489	B;P;B	0.35155	0.213;0.487;0.178	B;B;B	0.37650	0.09;0.255;0.054	T	0.81035	-0.1115	10	0.51188	T	0.08	-16.2854	11.0189	0.47707	0.0841:0.0:0.9159:0.0	.	60;60;60	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	Y	60;72;60	ENSP00000450857:S60Y;ENSP00000267540:S60Y	ENSP00000267540:S60Y	S	-	2	0	STON2	80932185	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	1.966000	0.40481	2.751000	0.94390	0.655000	0.94253	TCT		0.602	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		34	292	1	0	8.4185e-14	1	9.11178e-14	34	292				
ATP6AP1L	92270	broad.mit.edu	37	5	81613867	81613867	+	Silent	SNP	C	C	T	rs371506768		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81613867C>T	ENST00000380167.4	+	10	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	141					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.C141C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAAGACTGCGCCTCCTCCT	0.547																																						ENST00000380167.4																			1	Substitution - coding silent(1)	p.C141C(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(421-423)tgC>tgT		ATPase, H+ transporting, lysosomal accessory protein 1-like		C		0,4406		0,0,2203	97.0	84.0	89.0		423	-6.3	0.0	5		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6AP1L	NM_001017971.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/225	81613867	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81613867C>T	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.423C>T	5.37:g.81613867C>T						ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C	p.C141C			Q52LC2	VAS1L_HUMAN			10	1748	+			141						Silent	SNP	ENST00000380167.4	37	c.423C>T	CCDS34196.1																																																																																				0.547	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		57	273	0	0	0	1	0	57	273				
VCAN	1462	broad.mit.edu	37	5	82834706	82834706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82834706G>A	ENST00000265077.3	+	8	6449	c.5884G>A	c.(5884-5886)Gca>Aca	p.A1962T	VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1962	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTCTGGAGATGCAGCATTTAG	0.453																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(5884-5886)Gca>Aca		versican							96.0	88.0	91.0					5																	82834706		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834706G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5884G>A	5.37:g.82834706G>A	ENSP00000265077:p.Ala1962Thr					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN-AS1_ENST00000512090.1_RNA	p.A1962T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6449	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1962			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5884G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	6.088	0.384584	0.11524	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84800	-1.88;-1.9;3.19	5.97	-1.47	0.08772	.	0.710056	0.13201	N	0.405995	T	0.75554	0.3865	M	0.62723	1.935	0.09310	N	1	B;B	0.20052	0.041;0.024	B;B	0.14578	0.011;0.005	T	0.56786	-0.7921	10	0.18710	T	0.47	.	1.9771	0.03418	0.3318:0.215:0.3443:0.1089	.	975;1962	P13611-2;P13611	.;CSPG2_HUMAN	T	1962;975;975	ENSP00000265077:A1962T;ENSP00000340062:A975T;ENSP00000426251:A975T	ENSP00000265077:A1962T	A	+	1	0	VCAN	82870462	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.118000	0.15605	-0.164000	0.10927	-0.469000	0.05056	GCA		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		12	356	0	0	0	1	0	12	356				
BCDIN3D	144233	broad.mit.edu	37	12	50232651	50232651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50232651C>T	ENST00000333924.4	-	2	423	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	128	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						AAAGTCAAGGCATCAGGAAAA	0.468											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333924.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						c.(382-384)Gcc>Acc		BCDIN3 domain containing							97.0	96.0	96.0					12																	50232651		2203	4300	6503	SO:0001583	missense	144233						methyltransferase activity	g.chr12:50232651C>T		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.382G>A	12.37:g.50232651C>T	ENSP00000335201:p.Ala128Thr		OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	p.A128T	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN			2	423	-			128			Bin3-type SAM.		A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	c.382G>A	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287015	0.23478	.	.	ENSG00000186666	ENST00000333924	T	0.46063	0.88	5.57	5.57	0.84162	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.404823	0.30704	N	0.009056	T	0.36991	0.0987	L	0.58101	1.795	0.80722	D	1	B	0.32245	0.361	B	0.26969	0.075	T	0.12319	-1.0552	10	0.30078	T	0.28	.	12.3707	0.55254	0.1683:0.8316:0.0:0.0	.	128	Q7Z5W3	BN3D2_HUMAN	T	128	ENSP00000335201:A128T	ENSP00000335201:A128T	A	-	1	0	BCDIN3D	48518918	0.996000	0.38824	1.000000	0.80357	0.872000	0.50106	2.785000	0.47782	2.785000	0.95823	0.591000	0.81541	GCC		0.468	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		60	392	0	0	0	1	0	60	392				
IFIT5	24138	broad.mit.edu	37	10	91177557	91177557	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91177557C>G	ENST00000371795.4	+	2	814	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	IFIT5_ENST00000416601.1_Intron	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	201					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						GAGCTTTTCTCTGGGGCCTTT	0.448																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(601-603)Ctg>Gtg		interferon-induced protein with tetratricopeptide repeats 5							70.0	76.0	74.0					10																	91177557		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91177557C>G	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.601C>G	10.37:g.91177557C>G	ENSP00000360860:p.Leu201Val					IFIT5_ENST00000416601.1_Intron	p.L201V	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	814	+			201					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.601C>G	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835418	0.50951	.	.	ENSG00000152778	ENST00000371795	T	0.48836	0.8	6.03	4.14	0.48551	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.274754	0.36101	N	0.002795	T	0.37571	0.1008	L	0.37507	1.11	0.80722	D	1	P	0.48503	0.911	B	0.43838	0.433	T	0.07539	-1.0767	10	0.31617	T	0.26	-4.439	8.7594	0.34665	0.0:0.7657:0.0:0.2343	.	201	Q13325	IFIT5_HUMAN	V	201	ENSP00000360860:L201V	ENSP00000360860:L201V	L	+	1	2	IFIT5	91167537	0.002000	0.14202	0.985000	0.45067	0.992000	0.81027	-0.242000	0.08928	0.832000	0.34804	0.655000	0.94253	CTG		0.448	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		82	334	0	0	0	1	0	82	334				
NTRK1	4914	broad.mit.edu	37	1	156849945	156849945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156849945C>T	ENST00000524377.1	+	16	2242	c.2201C>T	c.(2200-2202)aCg>aTg	p.T734M	NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M|NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000368196.3_Missense_Mutation_p.T728M	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTCTCCAACACGGAGGTCAGC	0.622			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2182-2184)aCg>aTg		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						71.0	66.0	67.0					1																	156849945		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849945C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2201C>T	1.37:g.156849945C>T	ENSP00000431418:p.Thr734Met	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.T734M|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M	p.T728M	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			15	2303	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		734			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.2183C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762238	0.49468	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.08	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108957	0.40908	D	0.000983	T	0.78407	0.4278	N	0.12502	0.225	0.45318	D	0.998313	P;B;D;D	0.89917	0.539;0.256;0.999;1.0	B;B;P;D	0.72075	0.164;0.041;0.807;0.976	T	0.82376	-0.0488	10	0.48119	T	0.1	.	15.3924	0.74755	0.0:1.0:0.0:0.0	.	731;728;734;698	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	698;728;734;731	ENSP00000376120:T698M;ENSP00000357179:T728M;ENSP00000431418:T734M;ENSP00000351486:T731M	ENSP00000351486:T731M	T	+	2	0	NTRK1	155116569	0.083000	0.21467	0.992000	0.48379	0.801000	0.45260	0.449000	0.21744	2.273000	0.75805	0.561000	0.74099	ACG		0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		71	383	0	0	0	1	0	71	383				
XPO1	7514	broad.mit.edu	37	2	61715367	61715367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61715367C>T	ENST00000401558.2	-	19	2973	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q|XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	749					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.R749Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTTACAGTTCGCATACTTCT	0.363			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		1	Substitution - Missense(1)	p.R749Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2245-2247)cGa>cAa		exportin 1 (CRM1 homolog, yeast)							145.0	142.0	143.0					2																	61715367		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61715367C>T	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2246G>A	2.37:g.61715367C>T	ENSP00000384863:p.Arg749Gln					XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q|XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q	p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		19	2973	-			749					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.2246G>A	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761877	0.96906	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.92970	3.365	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.65874	0.925;0.939	D	0.86494	0.1799	9	0.40728	T	0.16	-11.0536	19.6691	0.95903	0.0:1.0:0.0:0.0	.	396;749	B3KWD0;O14980	.;XPO1_HUMAN	Q	749	.	ENSP00000384863:R749Q	R	-	2	0	XPO1	61568871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.767000	0.85331	2.721000	0.93114	0.591000	0.81541	CGA		0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		78	498	0	0	0	1	0	78	498				
ENOX2	10495	broad.mit.edu	37	X	129771328	129771328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129771328G>T	ENST00000370927.1	-	9	1294	c.1273C>A	c.(1273-1275)Ctc>Atc	p.L425I	ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I|ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I|ENOX2_ENST00000338144.3_Missense_Mutation_p.L425I			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	425					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.L425I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TAGGCATCGAGCTGCCAACGG	0.428																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			1	Substitution - Missense(1)	p.L425I(1)	endometrium(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1273-1275)Ctc>Atc		ecto-NOX disulfide-thiol exchanger 2							240.0	188.0	206.0					X																	129771328		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129771328G>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1273C>A	X.37:g.129771328G>T	ENSP00000359965:p.Leu425Ile					ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I|ENOX2_ENST00000370927.1_Missense_Mutation_p.L425I|ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I	p.L425I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			12	1690	-			425					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1273C>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622491	0.66787	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.30448	1.53;1.53	5.09	4.19	0.49359	.	0.077113	0.53938	D	0.000052	T	0.38134	0.1029	M	0.73217	2.22	0.47659	D	0.999484	P;P	0.38020	0.615;0.615	B;B	0.43082	0.407;0.407	T	0.20672	-1.0268	9	.	.	.	-9.705	12.2879	0.54803	0.0:0.1667:0.8333:0.0	.	425;453	Q16206;A4QPE1	ENOX2_HUMAN;.	I	396;396;425;396;453;425	ENSP00000337146:L425I;ENSP00000359965:L425I	.	L	-	1	0	ENOX2	129599009	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.113000	0.64640	2.345000	0.79718	0.600000	0.82982	CTC		0.428	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		171	496	1	0	1.07678e-90	1	1.38253e-90	171	496				
POLQ	10721	broad.mit.edu	37	3	121256050	121256050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121256050C>T	ENST00000264233.5	-	5	765	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	213	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCACAACCACCATTCCTAAA	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(637-639)Gtg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							89.0	85.0	87.0					3																	121256050		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121256050C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.637G>A	3.37:g.121256050C>T	ENSP00000264233:p.Val213Met						p.V213M	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	5	765	-			213			Helicase ATP-binding.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.637G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628850	0.67015	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.18338	2.22	4.92	4.92	0.64577	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.180534	0.48286	D	0.000190	T	0.38295	0.1035	M	0.82132	2.575	0.47862	D	0.999533	D	0.55172	0.97	P	0.60415	0.874	T	0.18840	-1.0324	10	0.49607	T	0.09	.	11.5968	0.50979	0.0:0.9176:0.0:0.0824	.	213	O75417	DPOLQ_HUMAN	M	213;348	ENSP00000264233:V213M	ENSP00000264233:V213M	V	-	1	0	POLQ	122738740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.514000	0.67043	2.259000	0.74868	0.462000	0.41574	GTG		0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		49	257	0	0	0	1	0	49	257				
LRRTM4	80059	broad.mit.edu	37	2	77745858	77745858	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:77745858C>A	ENST00000409093.1	-	3	1473	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	379					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCAGAGGTTTCTGGGGAGTTT	0.483																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1135-1137)caG>caT		leucine rich repeat transmembrane neuronal 4							133.0	129.0	130.0					2																	77745858		1883	4111	5994	SO:0001583	missense	80059					integral to membrane		g.chr2:77745858C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1137G>T	2.37:g.77745858C>A	ENSP00000386357:p.Gln379His					LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H	p.Q379H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1551	-			379					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1137G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872152	0.17322	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.68	4.79	0.61399	.	0.553031	0.20134	N	0.098526	T	0.58595	0.2133	N	0.22421	0.69	0.35920	D	0.831742	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.59048	-0.7527	10	0.29301	T	0.29	.	8.8148	0.34989	0.0:0.7684:0.1525:0.0791	.	380;379;379	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	380;379;379;379;380	ENSP00000387228:Q380H;ENSP00000387297:Q379H;ENSP00000386357:Q379H;ENSP00000386236:Q379H;ENSP00000386286:Q380H	ENSP00000386236:Q379H	Q	-	3	2	LRRTM4	77599366	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	0.732000	0.26072	1.353000	0.45828	0.655000	0.94253	CAG		0.483	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		6	222	1	0	0.0293803	1	0.0294705	6	222				
CYR61	3491	broad.mit.edu	37	1	86047630	86047630	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047630C>A	ENST00000451137.2	+	3	521	c.297C>A	c.(295-297)ccC>ccA	p.P99P	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	99	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGGGCAGACCCTGTGAATATA	0.453											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(295-297)ccC>ccA		cysteine-rich, angiogenic inducer, 61							112.0	131.0	125.0					1																	86047630		2203	4300	6503	SO:0001819	synonymous_variant	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86047630C>A	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.297C>A	1.37:g.86047630C>A			OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_ENST00000480413.1_3'UTR	p.P99P	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	3	521	+			99			VWFC.		O14934|O43775|Q9BZL7	Silent	SNP	ENST00000451137.2	37	c.297C>A	CCDS706.1																																																																																				0.453	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		20	756	1	0	2.94398e-08	1	3.0722e-08	20	756				
SMG6	23293	broad.mit.edu	37	17	2203925	2203925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2203925C>T	ENST00000263073.6	-	2	172	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SMG6_ENST00000544865.1_Missense_Mutation_p.R10H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	41	EJC-binding motif 1; mediates interaction with the EJC.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTATCTTTGCGCGGCCTGGC	0.473																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(28-30)cGc>cAc		SMG6 nonsense mediated mRNA decay factor							51.0	54.0	53.0					17																	2203925		2202	4300	6502	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203925C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.122G>A	17.37:g.2203925C>T	ENSP00000263073:p.Arg41His					SMG6_ENST00000263073.5_Missense_Mutation_p.R41H	p.R10H			Q86US8	EST1A_HUMAN			2	539	-			41					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.29G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275492	0.59649	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.13089	2.84;2.62	5.5	5.5	0.81552	.	0.132986	0.49916	D	0.000140	T	0.29256	0.0728	L	0.34521	1.04	0.41999	D	0.990885	D	0.89917	1.0	D	0.83275	0.996	T	0.01169	-1.1430	10	0.39692	T	0.17	-4.384	19.3907	0.94581	0.0:1.0:0.0:0.0	.	41	Q86US8	EST1A_HUMAN	H	41;10	ENSP00000263073:R41H;ENSP00000443920:R10H	ENSP00000263073:R41H	R	-	2	0	SMG6	2150675	0.998000	0.40836	0.999000	0.59377	0.925000	0.55904	4.288000	0.59007	2.569000	0.86673	0.655000	0.94253	CGC		0.473	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			25	407	0	0	0	1	0	25	407				
ZNF619	285267	broad.mit.edu	37	3	40523406	40523406	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40523406C>T	ENST00000314686.5	+	0	384				ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000521353.1_Missense_Mutation_p.A26V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A26V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A26V|ZNF619_ENST00000447116.2_Missense_Mutation_p.A26V			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGGATGTGGCTGTGTACTTC	0.517																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(76-78)gCt>gTt		zinc finger protein 619							200.0	186.0	191.0					3																	40523406		2203	4300	6503	SO:0001623	5_prime_UTR_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40523406C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.-22C>T	3.37:g.40523406C>T						ZNF619_ENST00000432264.2_Missense_Mutation_p.A26V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A26V|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000314686.5_5'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.A26V	p.A26V	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	3	384	+			26					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.77C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.226093	0.79576	.	.	ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000521353;ENST00000432264	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.03	3.03	0.35002	.	.	.	.	.	T	0.18173	0.0436	M	0.85630	2.765	0.22787	N	0.998734	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.965	T	0.01988	-1.1234	9	0.52906	T	0.07	.	11.885	0.52598	0.0:1.0:0.0:0.0	.	26;26	C9JRN5;E9PCD9	.;.	V	26	ENSP00000411132:A26V;ENSP00000398024:A26V;ENSP00000430705:A26V;ENSP00000388710:A26V	ENSP00000398024:A26V	A	+	2	0	ZNF619	40498410	0.531000	0.26338	0.968000	0.41197	0.996000	0.88848	1.605000	0.36815	1.695000	0.51148	0.563000	0.77884	GCT		0.517	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		25	743	0	0	0	1	0	25	743				
UGT3A2	167127	broad.mit.edu	37	5	36038073	36038073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36038073C>T	ENST00000282507.3	-	6	1222	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S340N|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	374					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCATTATGCTATTCTGCCC	0.493																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1120-1122)aGc>aAc		UDP glycosyltransferase 3 family, polypeptide A2							78.0	81.0	80.0					5																	36038073		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36038073C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1121G>A	5.37:g.36038073C>T	ENSP00000282507:p.Ser374Asn					UGT3A2_ENST00000513300.1_Missense_Mutation_p.S340N|UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N	p.S374N	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1222	-	all_lung(31;0.000179)		374					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1121G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707516	0.68615	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76578	-1.03;-1.03;2.04	3.32	3.32	0.38043	.	0.000000	0.85682	U	0.000000	D	0.90793	0.7109	H	0.95402	3.665	0.41111	D	0.985742	P;D	0.89917	0.89;1.0	P;D	0.76071	0.758;0.987	D	0.93692	0.7008	10	0.87932	D	0	.	14.5961	0.68407	0.0:1.0:0.0:0.0	.	340;374	E9PFK7;Q3SY77	.;UD3A2_HUMAN	N	374;340;72	ENSP00000282507:S374N;ENSP00000427404:S340N;ENSP00000445367:S72N	ENSP00000282507:S374N	S	-	2	0	UGT3A2	36073830	0.866000	0.29940	0.464000	0.27143	0.662000	0.39071	4.879000	0.63100	2.159000	0.67721	0.563000	0.77884	AGC		0.493	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		86	392	0	0	0	1	0	86	392				
TMEM19	55266	broad.mit.edu	37	12	72083392	72083392	+	Missense_Mutation	SNP	C	C	T	rs373199946		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72083392C>T	ENST00000266673.5	+	2	746	c.152C>T	c.(151-153)cCg>cTg	p.P51L	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	51						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CCTATTTCTCCGTGGCGTTGG	0.413																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(151-153)cCg>cTg		transmembrane protein 19		C	LEU/PRO	0,4406		0,0,2203	258.0	243.0	248.0		152	5.3	1.0	12		248	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM19	NM_018279.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	51/337	72083392	1,13005	2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72083392C>T	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.152C>T	12.37:g.72083392C>T	ENSP00000266673:p.Pro51Leu					RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	p.P51L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	2	746	+		Breast(359;0.0889)	51					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.152C>T	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167020	0.94768	0.0	1.16E-4	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.966	T	0.78259	-0.2273	9	0.38643	T	0.18	-18.4485	19.0554	0.93062	0.0:1.0:0.0:0.0	.	51;51	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	L	51	.	ENSP00000266673:P51L	P	+	2	0	TMEM19	70369659	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	6.813000	0.75231	2.496000	0.84212	0.655000	0.94253	CCG		0.413	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		92	434	0	0	0	1	0	92	434				
MAP3K1	4214	broad.mit.edu	37	5	56181885	56181885	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56181885T>C	ENST00000399503.3	+	17	4109	c.4109T>C	c.(4108-4110)gTc>gCc	p.V1370A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACAGAGATGTCAAAGGTGAG	0.363																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4108-4110)gTc>gCc		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							83.0	75.0	78.0					5																	56181885		1823	4074	5897	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181885T>C	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4109T>C	5.37:g.56181885T>C	ENSP00000382423:p.Val1370Ala						p.V1370A	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	17	4109	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1370			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4109T>C	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680857	0.68042	.	.	ENSG00000095015	ENST00000399503	T	0.27104	1.69	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082046	0.52532	D	0.000071	T	0.44623	0.1302	M	0.93420	3.415	0.47441	D	0.999429	P	0.38280	0.625	B	0.37508	0.252	T	0.58912	-0.7552	10	0.87932	D	0	.	16.0623	0.80847	0.0:0.0:0.0:1.0	.	1370	Q13233	M3K1_HUMAN	A	1370	ENSP00000382423:V1370A	ENSP00000382423:V1370A	V	+	2	0	MAP3K1	56217642	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.654000	0.74387	2.195000	0.70347	0.533000	0.62120	GTC		0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		48	420	0	0	0	1	0	48	420				
OSBPL7	114881	broad.mit.edu	37	17	45886509	45886509	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45886509G>T	ENST00000007414.3	-	20	2294	c.2103C>A	c.(2101-2103)ctC>ctA	p.L701L	OSBPL7_ENST00000392507.3_Silent_p.L701L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	701					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACTTCCCAAAGAGTCGGTGGA	0.637																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2101-2103)ctC>ctA		oxysterol binding protein-like 7							51.0	55.0	54.0					17																	45886509		2203	4300	6503	SO:0001819	synonymous_variant	114881				lipid transport		lipid binding	g.chr17:45886509G>T	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2103C>A	17.37:g.45886509G>T						OSBPL7_ENST00000392507.3_Silent_p.L701L	p.L701L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			20	2294	-			701					D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	c.2103C>A	CCDS11515.1																																																																																				0.637	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		63	293	1	0	7.92265e-33	1	9.37054e-33	63	293				
ECE2	9718	broad.mit.edu	37	3	183994316	183994316	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183994316G>T	ENST00000402825.3	+	3	480				ECE2_ENST00000404464.3_Missense_Mutation_p.E29D|ECE2_ENST00000357474.5_Missense_Mutation_p.E29D|ECE2_ENST00000359140.4_Intron|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGCACCCGAGACCCCCGTAG	0.667																																						ENST00000404464.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(85-87)gaG>gaT		endothelin converting enzyme 2							17.0	21.0	20.0					3																	183994316		1937	4103	6040	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183994316G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-364G>T	3.37:g.183994316G>T						EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29D	p.E29D	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	225	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.87G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	4.458	0.084741	0.08583	.	.	ENSG00000145194	ENST00000404464;ENST00000357474	D;D	0.86164	-1.6;-2.08	3.76	3.76	0.43208	.	0.243031	0.36482	N	0.002563	T	0.69522	0.3120	N	0.04880	-0.145	0.40040	D	0.975649	B;B;B	0.17667	0.023;0.0;0.004	B;B;B	0.19666	0.026;0.001;0.006	T	0.63189	-0.6693	10	0.12766	T	0.61	.	8.3464	0.32275	0.1115:0.0:0.8885:0.0	.	29;29;29	B7Z1P1;O60344-2;O60344-5	.;.;.	D	29	ENSP00000385846:E29D;ENSP00000350066:E29D	ENSP00000350066:E29D	E	+	3	2	ECE2	185477010	0.650000	0.27331	0.992000	0.48379	0.819000	0.46315	0.506000	0.22658	1.934000	0.56057	0.462000	0.41574	GAG		0.667	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		25	80	1	0	6.12954e-19	1	6.81806e-19	25	80				
ASB2	51676	broad.mit.edu	37	14	94417504	94417504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417504C>T	ENST00000315988.4	-	4	1065	c.577G>A	c.(577-579)Gct>Act	p.A193T	ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Missense_Mutation_p.A241T	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	193					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCGTGCAGAGCGGTCCAGCCG	0.622																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(721-723)Gct>Act		ankyrin repeat and SOCS box containing 2							74.0	60.0	64.0					14																	94417504		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94417504C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.577G>A	14.37:g.94417504C>T	ENSP00000320675:p.Ala193Thr					ASB2_ENST00000315988.4_Missense_Mutation_p.A193T|ASB2_ENST00000556337.1_Intron	p.A241T	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1151	-		all_cancers(154;0.13)	193					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.721G>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203926	0.79127	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.42	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.052587	0.85682	D	0.000000	D	0.83408	0.5248	M	0.62154	1.92	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.84003	0.0344	10	0.66056	D	0.02	-21.6007	19.6758	0.95932	0.0:1.0:0.0:0.0	.	209;241;193	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	T	241;209;193;139;139;87	ENSP00000451575:A241T;ENSP00000320675:A193T;ENSP00000450940:A139T;ENSP00000451694:A87T	ENSP00000320675:A193T	A	-	1	0	ASB2	93487257	0.998000	0.40836	0.195000	0.23364	0.494000	0.33585	3.876000	0.56115	2.644000	0.89710	0.561000	0.74099	GCT		0.622	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			45	369	0	0	0	1	0	45	369				
SNX9	51429	broad.mit.edu	37	6	158349734	158349734	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158349734C>T	ENST00000392185.3	+	12	1459	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	430	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGCACGGGCCGTAAGTCCAC	0.597																																						ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.e12+1		sorting nexin 9							53.0	37.0	42.0					6																	158349734		2203	4299	6502	SO:0001630	splice_region_variant	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158349734C>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1288+1C>T	6.37:g.158349734C>T							p.P430_splice	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	12	1459	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	430			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Splice_Site	SNP	ENST00000392185.3	37	c.1288_splice	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709995	0.30322	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.43688	0.94	4.89	4.89	0.63831	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38222	-0.9671	10	0.06365	T	0.9	-14.4141	18.0411	0.89319	0.0:1.0:0.0:0.0	.	430	Q9Y5X1	SNX9_HUMAN	S	430;430;230	ENSP00000376024:P430S	ENSP00000252631:P230S	P	+	1	0	SNX9	158269722	1.000000	0.71417	0.978000	0.43139	0.189000	0.23516	4.415000	0.59809	2.263000	0.75096	0.467000	0.42956	CCA		0.597	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		Missense_Mutation	13	60	0	0	0	1	0	13	60				
FUT5	2527	broad.mit.edu	37	19	5867405	5867405	+	Missense_Mutation	SNP	C	C	T	rs145858323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5867405C>T	ENST00000588525.1	-	2	419	c.332G>A	c.(331-333)aGt>aAt	p.S111N	FUT5_ENST00000252675.5_Missense_Mutation_p.S111N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	111					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGGGTACACACTGGAGTCGGC	0.652																																						ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(331-333)aGt>aAt		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							68.0	63.0	65.0					19																	5867405		2203	4300	6503	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867405C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.332G>A	19.37:g.5867405C>T	ENSP00000466880:p.Ser111Asn					FUT5_ENST00000588525.1_Missense_Mutation_p.S111N	p.S111N			Q11128	FUT5_HUMAN			5	894	-			111					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.332G>A	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	T	3.579	-0.086057	0.07097	.	.	ENSG00000130383	ENST00000252675	T	0.26518	1.73	2.09	-0.735	0.11137	.	0.484276	0.19789	N	0.106037	T	0.15609	0.0376	L	0.39326	1.205	0.09310	N	1	B	0.09022	0.002	B	0.18871	0.023	T	0.15378	-1.0439	10	0.33141	T	0.24	.	3.5461	0.07829	0.1954:0.5024:0.0:0.3022	.	111	Q11128	FUT5_HUMAN	N	111	ENSP00000252675:S111N	ENSP00000252675:S111N	S	-	2	0	FUT5	5818405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.856000	0.04290	-0.159000	0.11021	-1.570000	0.00873	AGT		0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		8	496	0	0	0	1	0	8	496				
CMIP	80790	broad.mit.edu	37	16	81703810	81703810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81703810C>T	ENST00000537098.3	+	8	961	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	CMIP_ENST00000539778.2_Missense_Mutation_p.L203F|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.L144F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	297						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTTGAACGAGCTCAACGCGGG	0.587																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(889-891)Ctc>Ttc		c-Maf inducing protein							60.0	64.0	63.0					16																	81703810		1996	4177	6173	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81703810C>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.889C>T	16.37:g.81703810C>T	ENSP00000446100:p.Leu297Phe					CMIP_ENST00000539778.2_Missense_Mutation_p.L203F|CMIP_ENST00000398040.4_Missense_Mutation_p.L144F|CMIP_ENST00000566513.1_3'UTR	p.L297F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			8	961	+			263					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.889C>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874812	0.72180	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.10668	2.85;2.85	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.18964	0.0455	N	0.19112	0.55	0.54753	D	0.999988	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.75484	0.986;0.986;0.979	T	0.02654	-1.1128	10	0.62326	D	0.03	.	13.5913	0.61961	0.0:0.9228:0.0:0.0771	.	144;203;297	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	F	297;203;203;110	ENSP00000446100:L297F;ENSP00000440401:L203F	ENSP00000381120:L203F	L	+	1	0	CMIP	80261311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.522000	0.60539	2.298000	0.77334	0.467000	0.42956	CTC		0.587	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		12	65	0	0	0	1	0	12	65				
DNM1L	10059	broad.mit.edu	37	12	32895632	32895632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32895632G>T	ENST00000549701.1	+	19	2178	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.E676*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|YARS2_ENST00000551673.1_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	702	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTTCTGACAGAATCTGAGGA	0.393																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(2026-2028)Gaa>Taa		dynamin 1-like							152.0	150.0	151.0					12																	32895632		2203	4300	6503	SO:0001587	stop_gained	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32895632G>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.2104G>T	12.37:g.32895632G>T	ENSP00000450399:p.Glu702*					DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|DNM1L_ENST00000549701.1_Nonsense_Mutation_p.E702*	p.E676*	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			18	2190	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		702			GED.|Interaction with GSK3B.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Nonsense_Mutation	SNP	ENST00000549701.1	37	c.2026G>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	38	6.961801	0.97967	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	.	.	.	5.52	5.52	0.82312	.	0.119189	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6304	0.88104	0.0:0.0:1.0:0.0	.	.	.	.	X	676;757;715;702;678;665;691;499;704	.	ENSP00000266481:E665X	E	+	1	0	DNM1L	32786899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.607000	0.98328	2.582000	0.87167	0.585000	0.79938	GAA		0.393	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		42	436	1	0	1.8453e-21	1	2.07902e-21	42	436				
UBN2	254048	broad.mit.edu	37	7	138978654	138978654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138978654G>T	ENST00000473989.3	+	17	3921	c.3921G>T	c.(3919-3921)caG>caT	p.Q1307H	UBN2_ENST00000288561.8_Missense_Mutation_p.Q1224H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1307						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGGGTTTACAGCCAGGAGGAG	0.438																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3670-3672)caG>caT		ubinuclein 2							80.0	83.0	82.0					7																	138978654		2082	4225	6307	SO:0001583	missense	254048							g.chr7:138978654G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3921G>T	7.37:g.138978654G>T	ENSP00000418648:p.Gln1307His					UBN2_ENST00000473989.2_Missense_Mutation_p.Q1307H	p.Q1224H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			17	3921	+			1307			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3672G>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275816	0.59649	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.33216	1.42;1.44	5.86	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	N	0.17082	0.46	0.44123	D	0.996905	D	0.62365	0.991	P	0.53185	0.72	T	0.02026	-1.1227	10	0.07990	T	0.79	-10.5282	12.7516	0.57312	0.1324:0.0:0.8676:0.0	.	1307	Q6ZU65	UBN2_HUMAN	H	1307;1224	ENSP00000418648:Q1307H;ENSP00000288561:Q1224H	ENSP00000288561:Q1224H	Q	+	3	2	UBN2	138629194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.501000	0.45389	0.949000	0.37715	0.650000	0.86243	CAG		0.438	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		25	178	1	0	1.04121e-07	1	1.08382e-07	25	178				
NACA	4666	broad.mit.edu	37	12	57115165	57115165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57115165G>T	ENST00000454682.1	-	3	430	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	50	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGCAGGAGAGCAAGGAGG	0.562			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(148-150)tCt>tAt		nascent polypeptide-associated complex alpha subunit							32.0	31.0	31.0					12																	57115165		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57115165G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.149C>A	12.37:g.57115165G>T	ENSP00000403817:p.Ser50Tyr					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y	p.S50Y	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	430	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.149C>A		.	.	.	.	.	.	.	.	.	.	G	7.547	0.661910	0.14645	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.33216	1.42;1.42	3.46	3.46	0.39613	.	.	.	.	.	T	0.33614	0.0869	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	T	0.18147	-1.0346	9	0.87932	D	0	.	10.6916	0.45875	0.0:0.0:1.0:0.0	.	50;50	E9PAV3;F8VU71	.;.	Y	50	ENSP00000403817:S50Y;ENSP00000448035:S50Y	ENSP00000403817:S50Y	S	-	2	0	NACA	55401432	0.438000	0.25602	0.048000	0.18961	0.100000	0.18952	3.563000	0.53784	1.959000	0.56917	0.456000	0.33151	TCT		0.562	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		12	156	1	0	0.00010058	1	0.000102273	12	156				
C9orf69	90120	broad.mit.edu	37	9	139008678	139008678	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139008678C>T	ENST00000418388.1	-	2	571	c.69G>A	c.(67-69)gcG>gcA	p.A23A	C9orf69_ENST00000561457.1_Missense_Mutation_p.R48Q			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	23					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCCGCAGGCCGCATGCAGGC	0.701																																						ENST00000561457.1																			0				endometrium(1)	1						c.(142-144)cGg>cAg		chromosome 9 open reading frame 69							29.0	33.0	32.0					9																	139008678		1931	4095	6026	SO:0001819	synonymous_variant	90120							g.chr9:139008678C>T		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.69G>A	9.37:g.139008678C>T						C9orf69_ENST00000418388.1_Silent_p.A23A	p.R48Q	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	593	-		Myeloproliferative disorder(178;0.0511)							Missense_Mutation	SNP	ENST00000418388.1	37	c.143G>A	CCDS59155.1																																																																																				0.701	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		19	127	0	0	0	1	0	19	127				
RSPO1	284654	broad.mit.edu	37	1	38082217	38082217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082217G>A	ENST00000401069.1	-	4	937	c.225C>T	c.(223-225)tgC>tgT	p.C75C	RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C|RSPO1_ENST00000356545.2_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C|RSPO1_ENST00000401068.1_Silent_p.C75C	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	75					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGACGGCAAGCAGACGCCCA	0.612																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(223-225)tgC>tgT		R-spondin 1							67.0	71.0	70.0					1																	38082217		2055	4190	6245	SO:0001819	synonymous_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082217G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.225C>T	1.37:g.38082217G>A						RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C|RSPO1_ENST00000401068.1_Silent_p.C75C|RSPO1_ENST00000401069.1_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C	p.C75C	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			5	1012	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	75					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	37	c.225C>T	CCDS41304.1																																																																																				0.612	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		46	378	0	0	0	1	0	46	378				
MIS18A	54069	broad.mit.edu	37	21	33642777	33642777	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33642777C>T	ENST00000290130.3	-	3	519	c.465G>A	c.(463-465)acG>acA	p.T155T	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	155					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GATTCTTGGGCGTGCATCTGT	0.428																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(463-465)acG>acA		MIS18 kinetochore protein A							92.0	80.0	84.0					21																	33642777		2203	4300	6503	SO:0001819	synonymous_variant	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33642777C>T	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.465G>A	21.37:g.33642777C>T						MIS18A_ENST00000486363.1_5'UTR	p.T155T	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			3	519	-			155					B2R562|Q542Z0	Silent	SNP	ENST00000290130.3	37	c.465G>A	CCDS13611.1																																																																																				0.428	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		26	183	0	0	0	1	0	26	183				
ARAF	369	broad.mit.edu	37	X	47429401	47429401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47429401G>A	ENST00000377045.4	+	14	1723	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CTGCCTTACAGCCACATTGGC	0.587																																						ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1528-1530)aGc>aAc		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						64.0	38.0	47.0					X																	47429401		2203	4300	6503	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47429401G>A	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1529G>A	X.37:g.47429401G>A	ENSP00000366244:p.Ser510Asn					ARAF_ENST00000470206.1_3'UTR	p.S510N	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			14	1723	+			510			Protein kinase.		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.1529G>A	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175564	0.78564	.	.	ENSG00000078061	ENST00000377045	D	0.82803	-1.65	4.92	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170092	0.53938	D	0.000055	T	0.81498	0.4835	N	0.24115	0.695	0.80722	D	1	P	0.52463	0.953	P	0.57283	0.817	T	0.83154	-0.0102	10	0.66056	D	0.02	.	10.7924	0.46440	0.0:0.1877:0.8123:0.0	.	510	P10398	ARAF_HUMAN	N	510	ENSP00000366244:S510N	ENSP00000366244:S510N	S	+	2	0	ARAF	47314345	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.950000	0.49081	2.167000	0.68274	0.513000	0.50165	AGC		0.587	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			17	57	0	0	0	1	0	17	57				
MATK	4145	broad.mit.edu	37	19	3783843	3783843	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3783843A>G	ENST00000310132.6	-	6	949	c.551T>C	c.(550-552)gTg>gCg	p.V184A	MATK_ENST00000395040.2_Missense_Mutation_p.V143A|MATK_ENST00000585778.1_Missense_Mutation_p.V184A|MATK_ENST00000395045.2_Missense_Mutation_p.V185A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	184	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAAGAACACGGCCTCATC	0.667																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(550-552)gTg>gCg		megakaryocyte-associated tyrosine kinase							57.0	49.0	52.0					19																	3783843		2203	4299	6502	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3783843A>G	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.551T>C	19.37:g.3783843A>G	ENSP00000308734:p.Val184Ala					MATK_ENST00000395040.2_Missense_Mutation_p.V143A|MATK_ENST00000585778.1_Missense_Mutation_p.V184A|MATK_ENST00000395045.2_Missense_Mutation_p.V185A	p.V184A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	949	-		Hepatocellular(1079;0.137)	184			SH2.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.551T>C	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324334	0.41197	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.87966	-2.32;-2.32;-2.32	4.81	3.8	0.43715	SH2 motif (4);	0.663300	0.14471	N	0.317543	T	0.78387	0.4275	L	0.28014	0.82	0.27380	N	0.955432	P;P;P	0.44521	0.695;0.837;0.695	B;P;B	0.47430	0.328;0.547;0.328	T	0.67337	-0.5696	10	0.06757	T	0.87	-34.2197	4.188	0.10407	0.6184:0.0:0.0937:0.2879	.	184;185;184	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	A	185;184;143	ENSP00000378485:V185A;ENSP00000308734:V184A;ENSP00000378481:V143A	ENSP00000308734:V184A	V	-	2	0	MATK	3734843	0.000000	0.05858	0.995000	0.50966	0.939000	0.58152	0.779000	0.26746	0.708000	0.31955	0.459000	0.35465	GTG		0.667	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		21	203	0	0	0	1	0	21	203				
C3	718	broad.mit.edu	37	19	6684416	6684416	+	Silent	SNP	G	G	T	rs563352895	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684416G>T	ENST00000245907.6	-	33	4247	c.4155C>A	c.(4153-4155)atC>atA	p.I1385I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGATCTCAAGGATCATAGTGT	0.453																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4153-4155)atC>atA		complement component 3							140.0	140.0	140.0					19																	6684416		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684416G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4155C>A	19.37:g.6684416G>T							p.I1385I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	33	4247	-			1385					A7E236	Silent	SNP	ENST00000245907.6	37	c.4155C>A	CCDS32883.1																																																																																				0.453	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		101	514	1	0	5.10254e-61	1	6.42204e-61	101	514				
CLDND1	56650	broad.mit.edu	37	3	98235513	98235513	+	Missense_Mutation	SNP	C	C	T	rs147410947	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98235513C>T	ENST00000503004.1	-	5	1631	c.752G>A	c.(751-753)cGt>cAt	p.R251H	CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000508503.1_5'Flank			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	251						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATGCCACACGATATGCCTT	0.398																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(751-753)cGt>cAt		claudin domain containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	85.0	74.0	78.0		752,821,752,752,467,752	5.2	0.8	3	dbSNP_134	78	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense,missense	CLDND1	NM_001040181.1,NM_001040182.1,NM_001040183.1,NM_001040199.1,NM_001040200.1,NM_019895.2	29,29,29,29,29,29	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	251/254,274/277,251/254,251/254,156/159,251/254	98235513	6,13000	2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98235513C>T	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.752G>A	3.37:g.98235513C>T	ENSP00000421226:p.Arg251His					CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H	p.R251H			Q9NY35	CLDN1_HUMAN			5	1631	-			251					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.752G>A	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604808	0.28623	0.0	6.98E-4	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287	T;T;T;T;T;T;T;T;T	0.38077	1.52;1.46;1.52;1.52;1.52;1.52;1.52;1.16;1.52	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.58268	0.982;0.982	P;P	0.44921	0.459;0.464	T	0.08597	-1.0714	10	0.52906	T	0.07	-14.3194	13.1986	0.59754	0.0:0.9234:0.0:0.0766	.	156;251	F2Z2D9;Q9NY35	.;CLDN1_HUMAN	H	251;274;251;251;251;251;251;156;251	ENSP00000340247:R251H;ENSP00000388457:R274H;ENSP00000377734:R251H;ENSP00000421226:R251H;ENSP00000377739:R251H;ENSP00000377735:R251H;ENSP00000423590:R251H;ENSP00000424669:R156H;ENSP00000426869:R251H	ENSP00000340247:R251H	R	-	2	0	CLDND1	99718203	1.000000	0.71417	0.760000	0.31359	0.019000	0.09904	5.644000	0.67902	1.561000	0.49584	0.655000	0.94253	CGT		0.398	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		39	182	0	0	0	1	0	39	182				
USH1C	10083	broad.mit.edu	37	11	17522689	17522689	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17522689G>T	ENST00000318024.4	-	18	1497	c.1389C>A	c.(1387-1389)tcC>tcA	p.S463S	USH1C_ENST00000005226.7_Silent_p.S763S|USH1C_ENST00000527020.1_Silent_p.S444S|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Silent_p.S432S	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	463	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCAGGTCTAAGGATCCCTCCT	0.587																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2287-2289)tcC>tcA		Usher syndrome 1C (autosomal recessive, severe)							56.0	48.0	50.0					11																	17522689		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17522689G>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1389C>A	11.37:g.17522689G>T						USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Silent_p.S444S|USH1C_ENST00000318024.4_Silent_p.S463S|USH1C_ENST00000527720.1_Silent_p.S432S	p.S763S	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			23	2288	-			463					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.2289C>A	CCDS31438.1																																																																																				0.587	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		5	125	1	0	1.23904e-05	1	1.26975e-05	5	125				
IFI27L1	122509	broad.mit.edu	37	14	94568225	94568225	+	Missense_Mutation	SNP	G	G	A	rs148533447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94568225G>A	ENST00000555523.1	+	4	346	c.127G>A	c.(127-129)Gca>Aca	p.A43T	IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000556381.1_Missense_Mutation_p.A42T|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	43						integral component of membrane (GO:0016021)				lung(2)	2						AGGAATCGCCGCATCCTCCAT	0.597																																						ENST00000556381.1																			0				lung(2)	2						c.(124-126)Gca>Aca		interferon, alpha-inducible protein 27-like 1		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	121.0	96.0	105.0		127,127	2.6	0.2	14	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense	IFI27L1	NM_145249.2,NM_206949.2	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	43/105,43/105	94568225	1,13005	2203	4300	6503	SO:0001583	missense	122509					integral to membrane		g.chr14:94568225G>A	BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"""family with sequence similarity 14, member B"""	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.127G>A	14.37:g.94568225G>A	ENSP00000451851:p.Ala43Thr					IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000555523.1_Missense_Mutation_p.A43T	p.A42T			Q96BM0	I27L1_HUMAN			5	459	+			43						Missense_Mutation	SNP	ENST00000555523.1	37	c.124G>A	CCDS9919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.739288|2.739288	0.49045|0.49045	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85|.	3.48|3.48	2.59|2.59	0.31030|0.31030	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.91612|0.91612	3.225|3.225	0.39235|0.39235	D|D	0.963742|0.963742	P|.	0.47302|.	0.893|.	B|.	0.38842|.	0.283|.	T|T	0.78690|0.78690	-0.2106|-0.2106	10|5	0.66056|.	D|.	0.02|.	.|.	6.7502|6.7502	0.23483|0.23483	0.1294:0.0:0.8706:0.0|0.1294:0.0:0.8706:0.0	.|.	43|.	Q96BM0|.	I27L1_HUMAN|.	T|H	43;43;42;42;42;43|65	ENSP00000451851:A43T;ENSP00000376824:A43T;ENSP00000452226:A42T;ENSP00000451459:A42T;ENSP00000451608:A42T;ENSP00000450620:A43T|.	ENSP00000376824:A43T|.	A|R	+|+	1|2	0|0	IFI27L1|IFI27L1	93637978|93637978	0.997000|0.997000	0.39634|0.39634	0.239000|0.239000	0.24122|0.24122	0.000000|0.000000	0.00434|0.00434	5.284000|5.284000	0.65627|0.65627	1.063000|1.063000	0.40649|0.40649	-0.218000|-0.218000	0.12543|0.12543	GCA|CGC		0.597	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	NM_206949		54	242	0	0	0	1	0	54	242				
TNXB	7148	broad.mit.edu	37	6	32016159	32016159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016159G>A	ENST00000375244.3	-	29	10227	c.10026C>T	c.(10024-10026)gtC>gtT	p.V3342V	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Silent_p.V3340V			P22105	TENX_HUMAN	tenascin XB	3387	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCCACAGGGACTGGGCCGT	0.667																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10024-10026)gtC>gtT		tenascin XB							23.0	28.0	26.0					6																	32016159		1965	4132	6097	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32016159G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10026C>T	6.37:g.32016159G>A						TNXB_ENST00000375247.2_Silent_p.V3340V	p.V3342V			P22105	TENX_HUMAN			29	10227	-			3387			Fibronectin type-III 25.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10026C>T																																																																																					0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		31	122	0	0	0	1	0	31	122				
MBTPS1	8720	broad.mit.edu	37	16	84132819	84132819	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132819A>C	ENST00000343411.3	-	3	755	c.260T>G	c.(259-261)aTt>aGt	p.I87S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	87					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGAGGTATAATTCTCCAATT	0.378																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(259-261)aTt>aGt		membrane-bound transcription factor peptidase, site 1							155.0	140.0	145.0					16																	84132819		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132819A>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.260T>G	16.37:g.84132819A>C	ENSP00000344223:p.Ile87Ser						p.I87S	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			3	755	-			87					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.260T>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537704	0.85917	.	.	ENSG00000140943	ENST00000343411	T	0.36520	1.25	5.82	5.82	0.92795	.	0.088634	0.85682	D	0.000000	T	0.58466	0.2124	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	T	0.63959	-0.6519	10	0.87932	D	0	-19.3983	16.1685	0.81786	1.0:0.0:0.0:0.0	.	87	Q14703	MBTP1_HUMAN	S	87	ENSP00000344223:I87S	ENSP00000344223:I87S	I	-	2	0	MBTPS1	82690320	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	8.870000	0.92336	2.225000	0.72522	0.528000	0.53228	ATT		0.378	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		122	555	0	0	0	1	0	122	555				
C1orf94	84970	broad.mit.edu	37	1	34666546	34666546	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34666546C>A	ENST00000488417.1	+	3	1303	c.1183C>A	c.(1183-1185)Ctc>Atc	p.L395I	C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	395										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAAGAACTTGCTCTATGAGTT	0.577																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1183-1185)Ctc>Atc		chromosome 1 open reading frame 94							50.0	50.0	50.0					1																	34666546		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34666546C>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1183C>A	1.37:g.34666546C>A	ENSP00000435634:p.Leu395Ile					C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	p.L395I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1303	+		Myeloproliferative disorder(586;0.0393)	205					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.1183C>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833400	0.32421	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.36157	1.27;1.27	5.73	3.63	0.41609	.	0.266792	0.26776	N	0.022549	T	0.38746	0.1052	L	0.58101	1.795	0.29571	N	0.84988	P	0.45957	0.869	P	0.47645	0.553	T	0.34850	-0.9812	10	0.51188	T	0.08	-15.6548	7.4085	0.27004	0.0:0.7679:0.0:0.2321	.	395	Q6P1W5	CA094_HUMAN	I	205;395	ENSP00000362472:L205I;ENSP00000435634:L395I	ENSP00000362472:L205I	L	+	1	0	C1orf94	34439133	0.996000	0.38824	0.999000	0.59377	0.134000	0.20937	0.660000	0.25009	0.583000	0.29574	0.655000	0.94253	CTC		0.577	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		36	150	1	0	1.06647e-15	1	1.16694e-15	36	150				
RNF40	9810	broad.mit.edu	37	16	30778156	30778156	+	Missense_Mutation	SNP	G	G	A	rs11556801	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30778156G>A	ENST00000324685.6	+	11	1823	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000402121.3_Missense_Mutation_p.R155H|RNF40_ENST00000563683.1_Missense_Mutation_p.R423H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	463			R -> H (in dbSNP:rs11556801).		histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGATGCTGCGCATCGAGTTT	0.612																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(1387-1389)cGc>cAc		ring finger protein 40, E3 ubiquitin protein ligase							71.0	49.0	56.0					16																	30778156		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30778156G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1388G>A	16.37:g.30778156G>A	ENSP00000325677:p.Arg463His					RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000563683.1_Missense_Mutation_p.R423H|RNF40_ENST00000402121.3_Missense_Mutation_p.R155H	p.R463H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		11	1823	+			463		R -> H (in dbSNP:rs11556801).			Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.1388G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522352	0.96431	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.37235	1.21;1.21;1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68454	-0.5404	10	0.52906	T	0.07	-11.9928	18.7552	0.91830	0.0:0.0:1.0:0.0	rs11556801;rs11556801	155;363;463;463	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	H	463;363;155	ENSP00000325677:R463H;ENSP00000350563:R363H;ENSP00000384942:R155H	ENSP00000325677:R463H	R	+	2	0	RNF40	30685657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.723000	0.93209	0.655000	0.94253	CGC		0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		40	113	0	0	0	1	0	40	113				
TADA2A	6871	broad.mit.edu	37	17	35837053	35837053	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35837053T>A	ENST00000394395.2	+	16	1471	c.1298T>A	c.(1297-1299)tTc>tAc	p.F433Y	TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	433	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATCTATGATTTCCTCATCAGA	0.443																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1297-1299)tTc>tAc		transcriptional adaptor 2A							131.0	135.0	134.0					17																	35837053		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35837053T>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1298T>A	17.37:g.35837053T>A	ENSP00000377918:p.Phe433Tyr					TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	p.F433Y	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			16	1471	+			433			SWIRM.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.1298T>A	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	T	31	5.071877	0.93950	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.47869	0.83;0.83	5.71	5.71	0.89125	Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.70809	-0.4771	10	0.38643	T	0.18	-16.576	15.9804	0.80105	0.0:0.0:0.0:1.0	.	433	O75478	TAD2A_HUMAN	Y	433;332;433	ENSP00000377918:F433Y;ENSP00000225396:F433Y	ENSP00000225396:F433Y	F	+	2	0	TADA2A	32911166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.176000	0.68965	0.455000	0.32223	TTC		0.443	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		192	677	0	0	0	1	0	192	677				
NTRK3	4916	broad.mit.edu	37	15	88472622	88472622	+	Missense_Mutation	SNP	G	G	A	rs139392904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88472622G>A	ENST00000360948.2	-	16	2094	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	NTRK3_ENST00000394480.2_Missense_Mutation_p.R645C|NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C|NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGCCTGGCGTGGCTGTCCA	0.587			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18909	0.001		0.0	False		,,,				2504	0.0					ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1933-1935)Cgc>Tgc		neurotrophic tyrosine kinase, receptor, type 3		G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	56.0	51.0	53.0		1933,1933	5.2	1.0	15	dbSNP_134	53	9,8589	6.4+/-24.3	0,9,4290	yes	missense,missense	NTRK3	NM_001012338.2,NM_002530.3	180,180	0,10,6490	AA,AG,GG		0.1047,0.0227,0.0769	probably-damaging,probably-damaging	645/840,645/826	88472622	10,12990	2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88472622G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1933C>T	15.37:g.88472622G>A	ENSP00000354207:p.Arg645Cys	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C|NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C|NTRK3_ENST00000360948.2_Missense_Mutation_p.R645C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C	p.R645C	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		17	2254	-			645			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1933C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255390	0.80135	2.27E-4	0.001047	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.059478	0.64402	D	0.000001	D	0.91981	0.7460	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.995;0.992;0.994;0.997	P;P;P;P;P	0.57548	0.684;0.684;0.684;0.556;0.823	D	0.92621	0.6108	10	0.62326	D	0.03	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	547;637;637;645;645	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	C	645;645;637;645;547	ENSP00000377990:R645C;ENSP00000354207:R645C;ENSP00000350356:R637C;ENSP00000347397:R645C;ENSP00000437773:R547C	ENSP00000347397:R645C	R	-	1	0	NTRK3	86273626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.519000	0.60517	2.409000	0.81822	0.655000	0.94253	CGC		0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				26	117	0	0	0	1	0	26	117				
TCF3	6929	broad.mit.edu	37	19	1615576	1615576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615576C>T	ENST00000395423.3	-	14	1569	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000262965.5_Intron|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron			Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAAGAGCGTGGGGCCCG	0.701			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000395423.3				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1540-1542)acG>acA		transcription factor 3																																				SO:0001819	synonymous_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615576C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000395423.3:c.1542G>A	19.37:g.1615576C>T						TCF3_ENST00000588136.1_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.T514T			P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1569	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	533					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000395423.3	37	c.1542G>A																																																																																					0.701	TCF3-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000449374.1	NM_003200		54	261	0	0	0	1	0	54	261				
EIF2AK3	9451	broad.mit.edu	37	2	88890358	88890358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88890358C>T	ENST00000303236.3	-	5	1281	c.980G>A	c.(979-981)gGa>gAa	p.G327E	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	327					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TTCCAGATGTCCTCCCTTCTT	0.433																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(979-981)gGa>gAa		eukaryotic translation initiation factor 2-alpha kinase 3							164.0	151.0	155.0					2																	88890358		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88890358C>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.980G>A	2.37:g.88890358C>T	ENSP00000307235:p.Gly327Glu					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	p.G327E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			5	1281	-			327					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.980G>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972414	0.34848	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.049969	0.85682	D	0.000000	T	0.79793	0.4507	L	0.56396	1.775	0.54753	D	0.999985	D	0.89917	1.0	D	0.74348	0.983	T	0.74922	-0.3499	10	0.31617	T	0.26	-28.1707	20.2147	0.98293	0.0:1.0:0.0:0.0	.	327	Q9NZJ5	E2AK3_HUMAN	E	176;327;176;206	ENSP00000408325:G176E;ENSP00000307235:G327E;ENSP00000412076:G206E	ENSP00000307235:G327E	G	-	2	0	EIF2AK3	88671473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.284000	0.58983	2.785000	0.95823	0.591000	0.81541	GGA		0.433	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		41	524	0	0	0	1	0	41	524				
ARHGEF4	50649	broad.mit.edu	37	2	131797660	131797660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131797660C>T	ENST00000326016.5	+	7	1338	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.G202G|ARHGEF4_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000392953.3_Silent_p.G273G	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	273					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGGAGGACGGCGGGGCGGAGG	0.662																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(817-819)ggC>ggT		Rho guanine nucleotide exchange factor (GEF) 4							48.0	48.0	48.0					2																	131797660		2201	4299	6500	SO:0001819	synonymous_variant	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797660C>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.819C>T	2.37:g.131797660C>T						ARHGEF4_ENST00000355771.3_Silent_p.G202G|ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.G273G|ARHGEF4_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000439368.2_3'UTR	p.G273G	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	7	1338	+		Prostate(154;0.055)	273					Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	c.819C>T	CCDS2165.1																																																																																				0.662	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			37	73	0	0	0	1	0	37	73				
KRT15	3866	broad.mit.edu	37	17	39675024	39675024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39675024C>T	ENST00000254043.3	-	1	3641	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.R19Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	19	Gly-rich.|Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGAACCCCCTCGGGTTGAGCC	0.582																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(55-57)cGa>cAa		keratin 15							55.0	68.0	64.0					17																	39675024		2201	4295	6496	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39675024C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.56G>A	17.37:g.39675024C>T	ENSP00000254043:p.Arg19Gln					KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.R19Q	p.R19Q	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			1	3641	-		Breast(137;0.000286)	19			Gly-rich.|Head.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.56G>A	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	6.833	0.522964	0.13066	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.86366	-2.11;-2.11	4.79	4.79	0.61399	.	0.216324	0.23268	N	0.050055	T	0.66499	0.2795	N	0.08118	0	0.22468	N	0.999073	P	0.45428	0.858	B	0.29176	0.099	T	0.60525	-0.7246	10	0.17369	T	0.5	.	10.7105	0.45980	0.2441:0.7559:0.0:0.0	.	19	P19012	K1C15_HUMAN	Q	19	ENSP00000254043:R19Q;ENSP00000377546:R19Q	ENSP00000254043:R19Q	R	-	2	0	KRT15	36928550	0.000000	0.05858	0.061000	0.19648	0.076000	0.17211	-0.055000	0.11807	2.508000	0.84585	0.511000	0.50034	CGA		0.582	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		17	694	0	0	0	1	0	17	694				
DCT	1638	broad.mit.edu	37	13	95131483	95131483	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131483C>T	ENST00000377028.5	-	1	440	c.27G>A	c.(25-27)ctG>ctA	p.L9L	DCT_ENST00000446125.1_Silent_p.L9L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	9					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCAACTGAGCAGAAACCCCC	0.527																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(25-27)ctG>ctA		dopachrome tautomerase							25.0	25.0	25.0					13																	95131483		2203	4299	6502	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95131483C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.27G>A	13.37:g.95131483C>T						DCT_ENST00000446125.1_Silent_p.L9L	p.L9L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	440	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	9					Q09GT4	Silent	SNP	ENST00000377028.5	37	c.27G>A	CCDS9470.1																																																																																				0.527	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			27	131	0	0	0	1	0	27	131				
CDK11B	984	broad.mit.edu	37	1	1580536	1580536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1580536G>A	ENST00000407249.3	-	7	590	c.591C>T	c.(589-591)cgC>cgT	p.R197R	CDK11B_ENST00000341832.6_Silent_p.R150R|CDK11B_ENST00000340677.5_Silent_p.R184R|CDK11B_ENST00000317673.7_Silent_p.R195R			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	165	Glu-rich.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCCGCCGCTCGCGCTCCTTCT	0.706																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(589-591)cgC>cgT		cyclin-dependent kinase 11B							11.0	12.0	12.0					1																	1580536		1751	3993	5744	SO:0001819	synonymous_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1580536G>A	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.591C>T	1.37:g.1580536G>A						CDK11B_ENST00000340677.5_Silent_p.R184R|CDK11B_ENST00000317673.7_Silent_p.R195R|CDK11B_ENST00000341832.6_Silent_p.R150R	p.R197R			P21127	CD11B_HUMAN			7	590	-			194			Glu-rich.		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Silent	SNP	ENST00000407249.3	37	c.591C>T																																																																																					0.706	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		12	97	0	0	0	1	0	12	97				
SPTLC2	9517	broad.mit.edu	37	14	78063618	78063618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78063618C>T	ENST00000216484.2	-	2	431	c.238G>A	c.(238-240)Gta>Ata	p.V80I		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	80					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AGGGTGAGTACGCCATACCCC	0.398																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(238-240)Gta>Ata		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						130.0	111.0	117.0					14																	78063618		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78063618C>T	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.238G>A	14.37:g.78063618C>T	ENSP00000216484:p.Val80Ile						p.V80I	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	2	431	-			80					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.238G>A	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.663|4.663	0.123259|0.123259	0.08931|0.08931	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|T	.|0.69806	.|-0.43	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.127042	.|0.53938	.|D	.|0.000048	T|T	0.29817|0.29817	0.0745|0.0745	N|N	0.00926|0.00926	-1.1|-1.1	0.42181|0.42181	D|D	0.991685|0.991685	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.02654	.|T	.|1	-16.3828|-16.3828	9.2779|9.2779	0.37711|0.37711	0.0:0.8383:0.0:0.1617|0.0:0.8383:0.0:0.1617	.|.	.|80	.|O15270	.|SPTC2_HUMAN	H|I	16|80	.|ENSP00000216484:V80I	.|ENSP00000216484:V80I	R|V	-|-	2|1	0|0	SPTLC2|SPTLC2	77133371|77133371	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.994000|0.994000	0.84299|0.84299	3.820000|3.820000	0.55693|0.55693	2.412000|2.412000	0.81896|0.81896	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.398	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		57	191	0	0	0	1	0	57	191				
LRRC14	9684	broad.mit.edu	37	8	145745828	145745828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745828C>T	ENST00000292524.1	+	3	682	c.536C>T	c.(535-537)gCg>gTg	p.A179V	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	179										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTCCTATGCGTTCCTGCGG	0.711																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(535-537)gCg>gTg		leucine rich repeat containing 14							43.0	50.0	48.0					8																	145745828		2203	4297	6500	SO:0001583	missense	9684							g.chr8:145745828C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.536C>T	8.37:g.145745828C>T	ENSP00000292524:p.Ala179Val					LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V	p.A179V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	682	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		179					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.536C>T	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	C	7.098	0.573505	0.13623	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.18016	2.24;5.04;5.04	4.27	2.36	0.29203	.	0.568408	0.17745	N	0.163439	T	0.09818	0.0241	N	0.20986	0.625	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.16100	-1.0414	10	0.32370	T	0.25	.	6.8223	0.23864	0.1783:0.4989:0.3228:0.0	.	179	Q15048	LRC14_HUMAN	V	179	ENSP00000436452:A179V;ENSP00000434768:A179V;ENSP00000292524:A179V	ENSP00000292524:A179V	A	+	2	0	LRRC14	145716636	0.000000	0.05858	0.007000	0.13788	0.100000	0.18952	0.728000	0.26013	2.219000	0.72066	0.462000	0.41574	GCG		0.711	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		87	480	0	0	0	1	0	87	480				
CALCR	799	broad.mit.edu	37	7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:93106930G>A	ENST00000394441.1	-	4	571	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	CALCR_ENST00000359558.2_Missense_Mutation_p.P104S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	104					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACTCCAGCCGGTGTGTCATCC	0.418																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(310-312)Ccg>Tcg		calcitonin receptor	Salmon Calcitonin(DB00017)						91.0	79.0	83.0					7																	93106930		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93106930G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.256C>T	7.37:g.93106930G>A	ENSP00000377959:p.Pro86Ser					CALCR_ENST00000394441.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S	p.P104S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		6	609	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		86					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.310C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113971	0.77210	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.06	4.06	0.47325	.	.	.	.	.	T	0.64204	0.2577	L	0.39147	1.195	0.80722	D	1	P;P	0.42649	0.537;0.786	B;P	0.51297	0.236;0.665	T	0.60068	-0.7335	9	0.27785	T	0.31	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	104;86	F5H605;A4D1G6	.;.	S	104;86;86;86;86;86	ENSP00000352561:P104S;ENSP00000353385:P86S;ENSP00000399552:P86S;ENSP00000377959:P86S;ENSP00000389295:P86S	ENSP00000352561:P104S	P	-	1	0	CALCR	92944866	1.000000	0.71417	0.877000	0.34402	0.658000	0.38924	5.934000	0.70138	2.544000	0.85801	0.557000	0.71058	CCG		0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		43	169	0	0	0	1	0	43	169				
SEC14L3	266629	broad.mit.edu	37	22	30856091	30856091	+	Missense_Mutation	SNP	C	C	T	rs142573310	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30856091C>T	ENST00000215812.4	-	12	1210	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	374	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000215812.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(1120-1122)Gcc>Acc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	130.0	108.0	115.0		1120	-0.9	0.7	22	dbSNP_134	115	8,8592	6.4+/-24.3	0,8,4292	yes	missense	SEC14L3	NM_174975.4	58	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign	374/401	30856091	9,12997	2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30856091C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1120G>A	22.37:g.30856091C>T	ENSP00000215812:p.Ala374Thr					SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T	p.A374T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN			12	1210	-			374			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.1120G>A	CCDS13877.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070140	0.36566	2.27E-4	9.3E-4	ENSG00000100012	ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.95	-0.882	0.10604	GOLD (2);	0.273852	0.41396	N	0.000882	T	0.26810	0.0656	N	0.25286	0.73	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08889	-1.0700	10	0.36615	T	0.2	-7.9929	13.8199	0.63313	0.0:0.901:0.0:0.099	.	297;374	E9PE57;Q9UDX4	.;S14L3_HUMAN	T	374;297;315;315;297	ENSP00000215812:A374T;ENSP00000385004:A297T;ENSP00000383896:A315T;ENSP00000444691:A315T;ENSP00000439752:A297T	ENSP00000215812:A374T	A	-	1	0	SEC14L3	29186091	0.001000	0.12720	0.684000	0.30055	0.984000	0.73092	-0.083000	0.11286	0.037000	0.15575	0.655000	0.94253	GCC		0.527	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		67	324	0	0	0	1	0	67	324				
GABRG3	2567	broad.mit.edu	37	15	27572106	27572106	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27572106G>A	ENST00000333743.6	+	4	675	c.421G>A	c.(421-423)Gct>Act	p.A141T	GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	141					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACCGCAGAGGCTCACTGGAT	0.453																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(421-423)Gct>Act		gamma-aminobutyric acid (GABA) A receptor, gamma 3							87.0	87.0	87.0					15																	27572106		1992	4183	6175	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27572106G>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.421G>A	15.37:g.27572106G>A	ENSP00000331912:p.Ala141Thr					GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	p.A141T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	4	675	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	141					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.421G>A	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822371	0.71028	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.77620	-1.11;-1.11;-1.11	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053250	0.85682	D	0.000000	D	0.84674	0.5524	L	0.60455	1.87	0.41409	D	0.987727	P;P	0.41978	0.767;0.725	P;P	0.54431	0.752;0.611	D	0.84862	0.0820	10	0.62326	D	0.03	.	19.0355	0.92976	0.0:0.0:1.0:0.0	.	141;141	Q99928;G3V594	GBRG3_HUMAN;.	T	141;141;83	ENSP00000331912:A141T;ENSP00000452244:A141T;ENSP00000451862:A83T	ENSP00000331912:A141T	A	+	1	0	GABRG3	25154852	1.000000	0.71417	0.995000	0.50966	0.517000	0.34286	4.933000	0.63484	2.722000	0.93159	0.655000	0.94253	GCT		0.453	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			57	234	0	0	0	1	0	57	234				
ZBTB38	253461	broad.mit.edu	37	3	141163589	141163589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163589G>A	ENST00000514251.1	+	4	2638	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCAGGGGAGAAATACCGGA	0.428																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2359-2361)Gaa>Aaa		zinc finger and BTB domain containing 38							55.0	53.0	53.0					3																	141163589		1858	4100	5958	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163589G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2359G>A	3.37:g.141163589G>A	ENSP00000426387:p.Glu787Lys					ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K	p.E787K			Q8NAP3	ZBT38_HUMAN			4	2638	+			787						Missense_Mutation	SNP	ENST00000514251.1	37	c.2359G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241111	0.39598	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09255	3.0;3.0;3.0	5.33	5.33	0.75918	.	0.507348	0.19173	N	0.120890	T	0.12987	0.0315	L	0.57536	1.79	0.49389	D	0.99978	P;P	0.43094	0.799;0.799	B;B	0.32980	0.156;0.156	T	0.10109	-1.0644	9	.	.	.	-11.7549	19.0314	0.92959	0.0:0.0:1.0:0.0	.	788;787	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	787;787;788	ENSP00000426387:E787K;ENSP00000406955:E787K;ENSP00000372635:E788K	.	E	+	1	0	ZBTB38	142646279	1.000000	0.71417	0.555000	0.28281	0.428000	0.31595	6.996000	0.76263	2.497000	0.84241	0.650000	0.86243	GAA		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			30	180	0	0	0	1	0	30	180				
NBAS	51594	broad.mit.edu	37	2	15555769	15555769	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15555769C>T	ENST00000281513.5	-	25	2863	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	946					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCACACCAGGCGACTGTTTCT	0.388																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2836-2838)tcG>tcA		neuroblastoma amplified sequence							86.0	88.0	87.0					2																	15555769		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15555769C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2838G>A	2.37:g.15555769C>T						NBAS_ENST00000441750.1_Intron	p.S946S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			25	2863	-			946					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.2838G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874693	0.17395	.	.	ENSG00000151779	ENST00000429842	.	.	.	6.16	0.815	0.18763	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.49687	D	0.999817	.	.	.	.	.	.	T	0.22871	-1.0204	4	.	.	.	.	3.1483	0.06479	0.5378:0.1105:0.2501:0.1016	.	.	.	.	T	44	.	.	A	-	1	0	NBAS	15473220	0.667000	0.27484	0.840000	0.33206	0.899000	0.52679	0.235000	0.17948	0.212000	0.20703	-0.271000	0.10264	GCC		0.388	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		136	374	0	0	0	1	0	136	374				
ACSL6	23305	broad.mit.edu	37	5	131329877	131329877	+	Silent	SNP	C	C	T	rs17854460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131329877C>T	ENST00000379240.1	-	2	195	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000379264.2_Silent_p.E39E|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000379255.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000431707.1_Silent_p.E14E|ACSL6_ENST00000543479.1_Silent_p.E14E|ACSL6_ENST00000379246.1_Silent_p.E25E			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	14					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCACCTAGCTCAGGCAGTC	0.542																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(115-117)gaG>gaA		acyl-CoA synthetase long-chain family member 6							79.0	64.0	69.0					5																	131329877		2203	4300	6503	SO:0001819	synonymous_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131329877C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.42G>A	5.37:g.131329877C>T						ACSL6_ENST00000379240.1_Silent_p.E14E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379246.1_Silent_p.E25E|ACSL6_ENST00000543479.1_Silent_p.E14E|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000379255.1_Silent_p.E14E|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000431707.1_Silent_p.E14E	p.E39E	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	225	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	14					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37	c.117G>A																																																																																					0.542	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		37	147	0	0	0	1	0	37	147				
BHLHA15	168620	broad.mit.edu	37	7	97842100	97842100	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97842100C>A	ENST00000609256.1	+	2	605	c.479C>A	c.(478-480)gCt>gAt	p.A160D	BHLHA15_ENST00000314018.2_Missense_Mutation_p.A160D			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	160					calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|Golgi organization (GO:0007030)|intracellular distribution of mitochondria (GO:0048312)|mitochondrial calcium ion transport (GO:0006851)	nucleus (GO:0005634)	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)										CAGCAGGTGGCTGGGGGTGCG	0.697																																						ENST00000314018.2																			0											c.(478-480)gCt>gAt		basic helix-loop-helix family, member a15							7.0	7.0	7.0					7																	97842100		2116	4161	6277	SO:0001583	missense	168620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:97842100C>A	BK000276	CCDS5655.1	7q21.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000180535	ENSG00000180535		"""Basic helix-loop-helix proteins"""	22265	protein-coding gene	gene with protein product		608606	"""basic helix-loop-helix domain containing, class B, 8"""	BHLHB8		14516699, 18557763	Standard	NM_177455		Approved	MIST1, bHLHa15	uc003upf.1	Q7RTS1	OTTHUMG00000154289	ENST00000609256.1:c.479C>A	7.37:g.97842100C>A	ENSP00000476312:p.Ala160Asp						p.A160D	NM_177455.3	NP_803238.1	Q7RTS1	BHA15_HUMAN			1	535	+			160					A4D271|Q14DE4	Missense_Mutation	SNP	ENST00000609256.1	37	c.479C>A	CCDS5655.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453234	0.26161	.	.	ENSG00000180535	ENST00000314018	D	0.93426	-3.22	3.97	1.97	0.26223	Helix-loop-helix DNA-binding (1);	0.839557	0.10493	N	0.668215	D	0.84848	0.5563	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.72590	-0.4247	10	0.31617	T	0.26	.	4.19	0.10416	0.2277:0.6506:0.0:0.1216	.	160	Q7RTS1	BHA15_HUMAN	D	160	ENSP00000326391:A160D	ENSP00000326391:A160D	A	+	2	0	BHLHA15	97680036	0.630000	0.27155	0.002000	0.10522	0.002000	0.02628	1.264000	0.33015	1.038000	0.40049	-0.339000	0.08088	GCT		0.697	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472733.1	NM_177455		4	16	1	0	1.23904e-05	1	1.26975e-05	4	16				
KMT2C	58508	broad.mit.edu	37	7	151879109	151879109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151879109G>T	ENST00000262189.6	-	36	6054	c.5836C>A	c.(5836-5838)Cca>Aca	p.P1946T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1946T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1946	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAGGGGATGGCCTATTTGCT	0.433																																						ENST00000355193.2																			0											c.(5836-5838)Cca>Aca		lysine (K)-specific methyltransferase 2C							124.0	129.0	127.0					7																	151879109		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151879109G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5836C>A	7.37:g.151879109G>T	ENSP00000262189:p.Pro1946Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.P1946T	p.P1946T							36	6054	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5836C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556898	0.27827	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.60040	0.22;0.22	5.09	5.09	0.68999	.	0.000000	0.44688	D	0.000428	T	0.69314	0.3097	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.796;0.999	T	0.72693	-0.4216	10	0.72032	D	0.01	.	18.5052	0.90894	0.0:0.0:1.0:0.0	.	1946;1007	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	1946	ENSP00000262189:P1946T;ENSP00000347325:P1946T	ENSP00000262189:P1946T	P	-	1	0	MLL3	151510042	1.000000	0.71417	0.995000	0.50966	0.742000	0.42306	7.816000	0.86201	2.366000	0.80165	0.563000	0.77884	CCA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			137	626	1	0	6.85551e-66	1	8.67079e-66	137	626				
CEP89	84902	broad.mit.edu	37	19	33370081	33370081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33370081G>A	ENST00000305768.5	-	19	2427	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	780					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCAGGTGGGGGCATGAGACTT	0.627																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(2338-2340)gCc>gTc		centrosomal protein 89kDa							69.0	65.0	66.0					19																	33370081		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33370081G>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2339C>T	19.37:g.33370081G>A	ENSP00000306105:p.Ala780Val						p.A780V	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			19	2427	-			780					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.2339C>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632411	0.46944	.	.	ENSG00000121289	ENST00000305768	T	0.34275	1.37	4.75	3.71	0.42584	.	0.119066	0.37577	N	0.002028	T	0.30166	0.0756	L	0.44542	1.39	0.25202	N	0.99004	B	0.14012	0.009	B	0.10450	0.005	T	0.27468	-1.0073	10	0.62326	D	0.03	0.0729	10.3175	0.43745	0.0948:0.0:0.9052:0.0	.	780	Q96ST8	CEP89_HUMAN	V	780	ENSP00000306105:A780V	ENSP00000306105:A780V	A	-	2	0	CEP89	38061921	0.104000	0.21937	0.001000	0.08648	0.003000	0.03518	3.337000	0.52120	1.132000	0.42129	0.462000	0.41574	GCC		0.627	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		13	455	0	0	0	1	0	13	455				
STAG3	10734	broad.mit.edu	37	7	99786553	99786553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99786553G>A	ENST00000426455.1	+	7	1036	c.629G>A	c.(628-630)gGc>gAc	p.G210D	STAG3_ENST00000317296.5_Missense_Mutation_p.G210D|STAG3_ENST00000394018.2_Missense_Mutation_p.G152D	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	210					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTATGATGGCTTCCCTATG	0.542																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(628-630)gGc>gAc		stromal antigen 3							132.0	124.0	127.0					7																	99786553		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99786553G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.629G>A	7.37:g.99786553G>A	ENSP00000400359:p.Gly210Asp					STAG3_ENST00000317296.5_Missense_Mutation_p.G210D|STAG3_ENST00000394018.2_Missense_Mutation_p.G152D	p.G210D			Q9UJ98	STAG3_HUMAN			7	1036	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		210					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.629G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.748218	0.49257	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296;ENST00000439782	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.31	4.35	0.52113	STAG (1);	0.389572	0.22016	N	0.065798	T	0.17874	0.0429	N	0.02865	-0.47	0.42558	D	0.993133	B;B	0.11235	0.004;0.0	B;B	0.17979	0.02;0.008	T	0.08597	-1.0714	10	0.38643	T	0.18	-14.851	6.3818	0.21540	0.1895:0.0:0.8105:0.0	.	152;210	B4DZ10;Q9UJ98	.;STAG3_HUMAN	D	210;152;210;152	ENSP00000400359:G210D;ENSP00000377586:G152D;ENSP00000319318:G210D;ENSP00000397067:G152D	ENSP00000319318:G210D	G	+	2	0	STAG3	99624489	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.081000	0.71309	2.765000	0.95021	0.555000	0.69702	GGC		0.542	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		127	453	0	0	0	1	0	127	453				
APAF1	317	broad.mit.edu	37	12	99059345	99059345	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99059345G>A	ENST00000551964.1	+	8	1706	c.970G>A	c.(970-972)Gta>Ata	p.V324I	APAF1_ENST00000547045.1_Missense_Mutation_p.V324I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I|APAF1_ENST00000357310.1_Missense_Mutation_p.V324I|APAF1_ENST00000333991.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	324	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCCTTGTAGTATCTTTAAT	0.343																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(970-972)Gta>Ata		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						107.0	115.0	112.0					12																	99059345		2202	4300	6502	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99059345G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.970G>A	12.37:g.99059345G>A	ENSP00000448165:p.Val324Ile					APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000551964.1_Missense_Mutation_p.V324I|APAF1_ENST00000547045.1_Missense_Mutation_p.V324I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000333991.1_Intron	p.V324I	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			8	1547	+			324			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.970G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567535	0.45694	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.96	4.07	0.47477	NB-ARC (1);	0.180815	0.47852	N	0.000204	T	0.59500	0.2198	N	0.04508	-0.205	0.80722	D	1	B;B;B;P	0.51537	0.008;0.001;0.016;0.946	B;B;B;P	0.48795	0.123;0.031;0.038;0.59	T	0.56294	-0.8003	10	0.10636	T	0.68	-22.9329	10.1916	0.43030	0.1753:0.0:0.8247:0.0	.	324;313;324;313	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	I	324;313;324;324;313;324;324	ENSP00000448165:V324I;ENSP00000353059:V313I;ENSP00000349862:V324I;ENSP00000341830:V324I;ENSP00000448449:V313I;ENSP00000449791:V324I;ENSP00000448161:V324I	ENSP00000341830:V324I	V	+	1	0	APAF1	97583476	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.475000	0.60210	1.088000	0.41272	0.650000	0.86243	GTA		0.343	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		135	581	0	0	0	1	0	135	581				
PRKACA	5566	broad.mit.edu	37	19	14200027	14200027	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14200027G>A	ENST00000308677.4	-	0	2677				PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.R262W	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TGAGGTCCCCGCTCGCCGTTA	0.642																																						ENST00000533683.2																			0				endometrium(3)	3						c.(784-786)Cgg>Tgg		sterile alpha motif domain containing 1							43.0	48.0	46.0					19																	14200027		2020	4163	6183	SO:0001628	intergenic_variant	90378					cytoplasm|extracellular region		g.chr19:14200027G>A		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14200027G>A							p.R262W	NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	2	1071	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	368					Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.784C>T	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529163	0.64860	.	.	ENSG00000141858	ENST00000533683	T	0.50813	0.73	3.97	-0.628	0.11537	.	0.684767	0.12585	N	0.456105	T	0.37544	0.1007	N	0.19112	0.55	0.29230	N	0.873336	D	0.63880	0.993	P	0.50378	0.639	T	0.39210	-0.9625	10	0.46703	T	0.11	-14.4101	9.3634	0.38210	0.0:0.0:0.3409:0.6591	.	262	E9PIW9	.	W	262	ENSP00000431971:R262W	ENSP00000431971:R262W	R	-	1	2	SAMD1	14061027	0.032000	0.19561	0.991000	0.47740	0.932000	0.56968	0.329000	0.19698	0.217000	0.20800	0.462000	0.41574	CGG		0.642	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		8	68	0	0	0	1	0	8	68				
NOP58	51602	broad.mit.edu	37	2	203139885	203139885	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203139885T>G	ENST00000264279.5	+	2	321	c.95T>G	c.(94-96)tTt>tGt	p.F32C	SNORD70_ENST00000391007.1_RNA|NOP58_ENST00000467734.1_Intron|SNORD70_ENST00000391232.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	32					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGGAAAGAATTTGAAACTCCA	0.284																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(94-96)tTt>tGt		NOP58 ribonucleoprotein							36.0	39.0	38.0					2																	203139885		2198	4286	6484	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203139885T>G		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.95T>G	2.37:g.203139885T>G	ENSP00000264279:p.Phe32Cys					NOP58_ENST00000467734.1_Intron	p.F32C	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			2	321	+			32					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.95T>G	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096477	0.76870	.	.	ENSG00000055044	ENST00000264279	T	0.62941	-0.01	5.06	5.06	0.68205	NOP5, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.88640	2.97	0.80722	D	1	P;B	0.46706	0.883;0.228	P;B	0.52823	0.71;0.289	T	0.81929	-0.0708	10	0.59425	D	0.04	1.9211	14.6402	0.68717	0.0:0.0:0.0:1.0	.	32;32	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	C	32	ENSP00000264279:F32C	ENSP00000264279:F32C	F	+	2	0	NOP58	202848130	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.017000	0.76399	2.126000	0.65437	0.533000	0.62120	TTT		0.284	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		4	133	0	0	0	1	0	4	133				
XKR5	389610	broad.mit.edu	37	8	6673409	6673409	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6673409A>C	ENST00000518724.1	-	0	989							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGTGGCCAACAGCAACAGGAT	0.587											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5							74.0	85.0	81.0					8																	6673409		2093	4216	6309			389610					integral to membrane		g.chr8:6673409A>C	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673409A>C			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	989	-								Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.587	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		6	49	0	0	0	1	0	6	49				
USP17L2	377630	broad.mit.edu	37	8	11995139	11995139	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995139T>A	ENST00000333796.3	-	1	1447	c.1131A>T	c.(1129-1131)gaA>gaT	p.E377D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	377					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTCTTTCCCATTCACTCTTCT	0.517																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1129-1131)gaA>gaT		ubiquitin specific peptidase 17-like family member 2							20.0	21.0	21.0					8																	11995139		1310	3201	4511	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995139T>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1131A>T	8.37:g.11995139T>A	ENSP00000333329:p.Glu377Asp					FAM66D_ENST00000434078.2_RNA	p.E377D	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1447	-			377						Missense_Mutation	SNP	ENST00000333796.3	37	c.1131A>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.898574	0.00517	.	.	ENSG00000223443	ENST00000333796	T	0.41758	0.99	0.771	-0.576	0.11731	Hyaluronan/mRNA-binding protein (1);	1.202600	0.06564	N	0.747271	T	0.16557	0.0398	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.23226	-1.0194	10	0.02654	T	1	.	4.0396	0.09745	0.0:0.2652:0.0:0.7348	.	377	Q6R6M4	U17L2_HUMAN	D	377	ENSP00000333329:E377D	ENSP00000333329:E377D	E	-	3	2	USP17L2	12032548	0.522000	0.26266	0.016000	0.15963	0.079000	0.17450	1.039000	0.30266	-0.150000	0.11195	0.240000	0.17902	GAA		0.517	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		45	322	0	0	0	1	0	45	322				
IGHV3-43	28426	broad.mit.edu	37	14	106926254	106926254	+	RNA	SNP	G	G	T	rs567745995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106926254G>T	ENST00000434710.1	-	0	367									immunoglobulin heavy variable 3-43																		GATACAGGGAGTTTTTGCTGT	0.488																																						ENST00000434710.1																			0																				303.0	214.0	243.0					14																	106926254		2031	4170	6201			0							g.chr14:106926254G>T	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926254G>T														0	367	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.488	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		172	2049	1	0	1.77355e-41	1	2.15486e-41	172	2049				
PXDNL	137902	broad.mit.edu	37	8	52323862	52323862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52323862C>T	ENST00000356297.4	-	16	2110	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	PXDNL_ENST00000543296.1_Silent_p.Q670Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	670					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCGTATCAGCTGCAGCGTGT	0.522																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2008-2010)caG>caA		peroxidasin homolog (Drosophila)-like							59.0	59.0	59.0					8																	52323862		1999	4181	6180	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52323862C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2010G>A	8.37:g.52323862C>T						PXDNL_ENST00000543296.1_Silent_p.Q670Q	p.Q670Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			16	2110	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	670					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2010G>A	CCDS47855.1																																																																																				0.522	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		10	50	0	0	0	1	0	10	50				
PCNT	5116	broad.mit.edu	37	21	47851775	47851775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851775C>T	ENST00000359568.5	+	38	8504	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2799					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGAGAAGTCCCGGGTGGTGG	0.602																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8395-8397)tcC>tcT		pericentrin							48.0	50.0	49.0					21																	47851775		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851775C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8397C>T	21.37:g.47851775C>T						PCNT_ENST00000480896.1_3'UTR	p.S2799S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8504	+	Breast(49;0.112)		2799					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8397C>T	CCDS33592.1																																																																																				0.602	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		38	139	0	0	0	1	0	38	139				
SIGLEC1	6614	broad.mit.edu	37	20	3673242	3673242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673242G>A	ENST00000344754.4	-	15	3955	c.3956C>T	c.(3955-3957)gCa>gTa	p.A1319V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1319	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTAGGCGCCTGCATGAGCCCG	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3955-3957)gCa>gTa		sialic acid binding Ig-like lectin 1, sialoadhesin							29.0	32.0	31.0					20																	3673242		2202	4300	6502	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673242G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3956C>T	20.37:g.3673242G>A	ENSP00000341141:p.Ala1319Val					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	p.A1319V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			15	3955	-			1319			Ig-like C2-type 13.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3956C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594026	0.66219	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15017	2.46;2.46	5.71	3.71	0.42584	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34652	N	0.003789	T	0.38321	0.1036	M	0.85542	2.76	0.09310	N	1	D;D	0.57257	0.971;0.979	P;P	0.60415	0.874;0.742	T	0.19712	-1.0297	10	0.56958	D	0.05	.	9.3211	0.37964	0.0779:0.0:0.7789:0.1432	.	1319;1319	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	1319	ENSP00000341141:A1319V;ENSP00000202578:A1319V	ENSP00000202578:A1319V	A	-	2	0	SIGLEC1	3621242	0.039000	0.19947	0.003000	0.11579	0.904000	0.53231	1.963000	0.40452	1.394000	0.46624	0.655000	0.94253	GCA		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		29	129	0	0	0	1	0	29	129				
LYSMD4	145748	broad.mit.edu	37	15	100271942	100271942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100271942G>A	ENST00000409796.1	-	2	325	c.263C>T	c.(262-264)gCg>gTg	p.A88V	LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Missense_Mutation_p.R59C	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	88						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ATACTGCAGCGCCAGCTTGTT	0.667																																						ENST00000344791.2																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(175-177)Cgc>Tgc		LysM, putative peptidoglycan-binding, domain containing 4							56.0	58.0	58.0					15																	100271942		2203	4300	6503	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100271942G>A	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.263C>T	15.37:g.100271942G>A	ENSP00000386283:p.Ala88Val					LYSMD4_ENST00000409796.1_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V|LYSMD4_ENST00000604213.1_Intron	p.R59C	NM_152449.2	NP_689662.2	Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		3	447	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		0					A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.175C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.153457|5.153457	0.94645|0.94645	.|.	.|.	ENSG00000183060|ENSG00000183060	ENST00000409796;ENST00000332728|ENST00000344791;ENST00000450512	T;T|T;T	0.57595|0.19105	0.39;0.39|2.17;2.17	5.03|5.03	5.03|5.03	0.67393|0.67393	Peptidoglycan-binding Lysin subgroup (1);|.	.|4.488390	.|0.00732	.|N	.|0.000950	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.52842	1.0|0.956	D|B	0.79784|0.39152	0.993|0.292	T|T	0.49437|0.49437	-0.8940|-0.8940	9|10	0.87932|0.72032	D|D	0|0.01	-23.904|-23.904	18.3844|18.3844	0.90462|0.90462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	88|59	Q5XG99|Q5XG99-2	LYSM4_HUMAN|.	V|C	88|59	ENSP00000386283:A88V;ENSP00000333008:A88V|ENSP00000342840:R59C;ENSP00000400054:R59C	ENSP00000333008:A88V|ENSP00000342840:R59C	A|R	-|-	2|1	0|0	LYSMD4|LYSMD4	98089465|98089465	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.996000|0.996000	0.88848|0.88848	8.816000|8.816000	0.91979|0.91979	2.325000|2.325000	0.78763|0.78763	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.667	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		43	390	0	0	0	1	0	43	390				
PPARGC1B	133522	broad.mit.edu	37	5	149212986	149212986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149212986G>A	ENST00000309241.5	+	5	1382	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	PPARGC1B_ENST00000360453.4_Silent_p.E411E|PPARGC1B_ENST00000403750.1_Silent_p.E386E|PPARGC1B_ENST00000394320.3_Silent_p.E450E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	450	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaggaggagTGGGGCAGGA	0.622																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(1348-1350)gaG>gaA		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							42.0	45.0	44.0					5																	149212986		2185	4290	6475	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212986G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1350G>A	5.37:g.149212986G>A						PPARGC1B_ENST00000360453.4_Silent_p.E411E|PPARGC1B_ENST00000403750.1_Silent_p.E386E|PPARGC1B_ENST00000394320.3_Silent_p.E450E	p.E450E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1382	+			450			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.1350G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	7.548	0.662079	0.14645	.	.	ENSG00000155846	ENST00000434684	.	.	.	5.38	2.66	0.31614	.	.	.	.	.	T	0.57695	0.2071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	-15.9151	8.4931	0.33112	0.3021:0.0:0.6979:0.0	.	.	.	.	M	137	.	.	V	+	1	0	PPARGC1B	149193179	0.978000	0.34361	1.000000	0.80357	0.978000	0.69477	-0.082000	0.11304	0.264000	0.21851	0.462000	0.41574	GTG		0.622	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		13	54	0	0	0	1	0	13	54				
TEX14	56155	broad.mit.edu	37	17	56651552	56651552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56651552C>A	ENST00000240361.8	-	23	3602	c.3517G>T	c.(3517-3519)Gac>Tac	p.D1173Y	TEX14_ENST00000389934.3_Missense_Mutation_p.D1167Y|TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y			Q8IWB6	TEX14_HUMAN	testis expressed 14	1173					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATACATGTCTTTCTCTTTC	0.353																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(3499-3501)Gac>Tac		testis expressed 14							338.0	279.0	299.0					17																	56651552		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56651552C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3517G>T	17.37:g.56651552C>A	ENSP00000240361:p.Asp1173Tyr					TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y|TEX14_ENST00000240361.8_Missense_Mutation_p.D1173Y	p.D1167Y	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			23	3616	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1173					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3499G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482421	0.63962	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.23552	1.9;1.9;1.9	5.51	4.53	0.55603	.	0.155857	0.45126	D	0.000384	T	0.36193	0.0958	L	0.32530	0.975	0.28234	N	0.92599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.943;0.972;0.974	T	0.12604	-1.0541	10	0.87932	D	0	.	9.7481	0.40459	0.0:0.9023:0.0:0.0977	.	1173;1127;1167	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1173;1167;1127	ENSP00000240361:D1173Y;ENSP00000374584:D1167Y;ENSP00000268910:D1127Y	ENSP00000240361:D1173Y	D	-	1	0	TEX14	54006551	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.067000	0.30616	1.433000	0.47394	0.655000	0.94253	GAC		0.353	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			64	309	1	0	1.85204e-48	1	2.28596e-48	64	309				
PWWP2B	170394	broad.mit.edu	37	10	134219225	134219225	+	Silent	SNP	C	C	T	rs201982405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219225C>T	ENST00000305233.5	+	2	1280	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PWWP2B_ENST00000368609.4_Silent_p.L407L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	407										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCTTTTCTCGTCAGCTGCC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17272	0.0		0.001	False		,,,				2504	0.0					ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1219-1221)ctC>ctT		PWWP domain containing 2B							43.0	39.0	41.0					10																	134219225		2200	4296	6496	SO:0001819	synonymous_variant	170394							g.chr10:134219225C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1221C>T	10.37:g.134219225C>T						PWWP2B_ENST00000368609.4_Silent_p.L407L	p.L407L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1280	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	407					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.1221C>T	CCDS7667.2																																																																																				0.657	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		72	287	0	0	0	1	0	72	287				
NRP2	8828	broad.mit.edu	37	2	206608031	206608031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206608031C>T	ENST00000357785.5	+	9	1427	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000360409.3_Missense_Mutation_p.R466C|NRP2_ENST00000412873.2_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTGCAGCCCGCCTGGTTAG	0.617																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1396-1398)Cgc>Tgc		neuropilin 2							67.0	78.0	74.0					2																	206608031		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206608031C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1396C>T	2.37:g.206608031C>T	ENSP00000350432:p.Arg466Cys					NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000357785.5_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C|NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000412873.2_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C	p.R466C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			9	2187	+			466			F5/8 type C 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1396C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432000	0.83776	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95850	3.73	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;1.0;1.0;1.0	D	0.98619	1.0666	10	0.87932	D	0	-30.6319	20.3928	0.98949	0.0:1.0:0.0:0.0	.	466;466;466;466;466;466	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	466	ENSP00000353582:R466C;ENSP00000439658:R466C;ENSP00000439261:R466C;ENSP00000347238:R466C;ENSP00000387519:R466C;ENSP00000349632:R466C;ENSP00000350432:R466C;ENSP00000407626:R466C;ENSP00000272849:R466C	ENSP00000272849:R466C	R	+	1	0	NRP2	206316276	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.910000	0.56371	2.813000	0.96785	0.655000	0.94253	CGC		0.617	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			283	864	0	0	0	1	0	283	864				
TRAF3IP1	26146	broad.mit.edu	37	2	239306131	239306131	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306131A>C	ENST00000373327.4	+	16	1943	c.1721A>C	c.(1720-1722)aAg>aCg	p.K574T	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	574	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCATGGAAGAAGGAGAAGGAC	0.552																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(1720-1722)aAg>aCg		TNF receptor-associated factor 3 interacting protein 1							111.0	107.0	108.0					2																	239306131		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239306131A>C	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1721A>C	2.37:g.239306131A>C	ENSP00000362424:p.Lys574Thr					TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T	p.K574T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	16	1943	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	574			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1721A>C	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447268	0.84101	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.16457	2.34;2.34;2.34	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.61387	1.9	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72338	0.977;0.937	T	0.12218	-1.0556	10	0.72032	D	0.01	-44.9473	11.4061	0.49898	0.9275:0.0:0.0724:0.0	.	508;574	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	T	508;574;574;508	ENSP00000375851:K508T;ENSP00000362424:K574T;ENSP00000375852:K574T	ENSP00000362424:K574T	K	+	2	0	TRAF3IP1	238970870	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.663000	0.61532	2.062000	0.61559	0.533000	0.62120	AAG		0.552	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		114	391	0	0	0	1	0	114	391				
UCP1	7350	broad.mit.edu	37	4	141483492	141483492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141483492C>T	ENST00000262999.3	-	5	739	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	222					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CAAAATCCAGCGATAAGAGCC	0.463																																						ENST00000262999.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16						c.(664-666)Gct>Act		uncoupling protein 1 (mitochondrial, proton carrier)							96.0	88.0	90.0					4																	141483492		2203	4300	6503	SO:0001583	missense	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141483492C>T	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.664G>A	4.37:g.141483492C>T	ENSP00000262999:p.Ala222Thr						p.A222T	NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN			5	739	-	all_hematologic(180;0.162)		222					Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	c.664G>A	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665467	0.88251	.	.	ENSG00000109424	ENST00000262999	D	0.87103	-2.21	5.83	5.83	0.93111	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.94187	0.7437	10	0.62326	D	0.03	.	17.6254	0.88092	0.0:1.0:0.0:0.0	.	221;222	Q4KMT7;P25874	.;UCP1_HUMAN	T	222	ENSP00000262999:A222T	ENSP00000262999:A222T	A	-	1	0	UCP1	141702942	1.000000	0.71417	0.848000	0.33437	0.415000	0.31203	7.333000	0.79214	2.773000	0.95371	0.650000	0.86243	GCT		0.463	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			10	292	0	0	0	1	0	10	292				
MASP1	5648	broad.mit.edu	37	3	186968053	186968053	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186968053A>C	ENST00000337774.5	-	8	1465	c.1076T>G	c.(1075-1077)aTt>aGt	p.I359S	MASP1_ENST00000392472.2_Missense_Mutation_p.I246S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S|MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	359	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACAGGTGGGAATCTTGTTACT	0.488																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1075-1077)aTt>aGt		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							200.0	203.0	202.0					3																	186968053		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186968053A>C	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1076T>G	3.37:g.186968053A>C	ENSP00000336792:p.Ile359Ser					MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000392472.2_Missense_Mutation_p.I246S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S	p.I359S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	8	1465	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		359			Sushi 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1076T>G	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541866	0.45280	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.282017	0.39475	N	0.001342	T	0.57475	0.2056	L	0.47716	1.5	0.37569	D	0.919358	B;B;B;B;B	0.33345	0.062;0.001;0.387;0.409;0.023	B;B;B;B;B	0.35859	0.062;0.026;0.212;0.099;0.073	T	0.60281	-0.7294	10	0.27785	T	0.31	.	15.1457	0.72650	1.0:0.0:0.0:0.0	.	333;359;246;359;359	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	S	359;359;246;246;359;333	ENSP00000336792:I359S;ENSP00000296280:I359S;ENSP00000376264:I246S;ENSP00000169293:I359S;ENSP00000376262:I333S	ENSP00000169293:I359S	I	-	2	0	MASP1	188450747	0.979000	0.34478	0.941000	0.38009	0.983000	0.72400	5.135000	0.64777	2.174000	0.68829	0.533000	0.62120	ATT		0.488	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		143	763	0	0	0	1	0	143	763				
TIMELESS	8914	broad.mit.edu	37	12	56827200	56827200	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56827200C>A	ENST00000553532.1	-	5	544	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	TIMELESS_ENST00000229201.4_Missense_Mutation_p.V132F|TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCACTGAGGACTCCAAAAGCC	0.512																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(394-396)Gtc>Ttc		timeless circadian clock							84.0	79.0	80.0					12																	56827200		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56827200C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.394G>T	12.37:g.56827200C>A	ENSP00000450607:p.Val132Phe					TIMELESS_ENST00000553532.1_Missense_Mutation_p.V132F|TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F	p.V132F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			5	548	-			132						Missense_Mutation	SNP	ENST00000553532.1	37	c.394G>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367273	0.82463	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.50001	0.76;0.76;0.76	5.42	4.53	0.55603	Timeless protein (1);	0.122383	0.56097	D	0.000036	T	0.69278	0.3093	M	0.83223	2.63	0.46701	D	0.999161	D;D	0.76494	0.999;0.999	D;D	0.71414	0.971;0.973	T	0.74996	-0.3473	10	0.87932	D	0	-19.0421	13.3854	0.60793	0.0:0.9229:0.0:0.0771	.	132;132	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	F	132	ENSP00000229201:V132F;ENSP00000450607:V132F;ENSP00000450848:V132F	ENSP00000229201:V132F	V	-	1	0	TIMELESS	55113467	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.872000	0.56085	1.439000	0.47511	0.650000	0.86243	GTC		0.512	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		59	253	1	0	1.27334e-21	1	1.43616e-21	59	253				
AHNAK	79026	broad.mit.edu	37	11	62285818	62285818	+	Silent	SNP	G	G	A	rs137898001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285818G>A	ENST00000378024.4	-	5	16345	c.16071C>T	c.(16069-16071)aaC>aaT	p.N5357N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5357					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCCCCAACGTTAAGCTTTG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		19724	0.0		0.0	False		,,,				2504	0.001					ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16069-16071)aaC>aaT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	122.0	93.0	103.0		16071,	-5.0	0.0	11	dbSNP_134	103	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,	5357/5891,	62285818	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62285818G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16071C>T	11.37:g.62285818G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.N5357N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16345	-		Melanoma(852;0.155)	5357					A1A586	Silent	SNP	ENST00000378024.4	37	c.16071C>T	CCDS31584.1																																																																																				0.557	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		81	363	0	0	0	1	0	81	363				
ABLIM3	22885	broad.mit.edu	37	5	148627370	148627370	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148627370T>G	ENST00000506113.1	+	17	2059	c.1577T>G	c.(1576-1578)aTt>aGt	p.I526S	ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	526					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGGCTGATTCTGAAGGAA	0.577																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1576-1578)aTt>aGt		actin binding LIM protein family, member 3							45.0	48.0	47.0					5																	148627370		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148627370T>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1577T>G	5.37:g.148627370T>G	ENSP00000425394:p.Ile526Ser					ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|RP11-331K21.1_ENST00000522685.1_RNA	p.I526S			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2059	+			526					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1577T>G	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352173	0.82132	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;0.987;0.982	D;D;D;P	0.83275	0.996;0.976;0.974;0.758	T	0.59263	-0.7487	10	0.87932	D	0	.	15.806	0.78513	0.0:0.0:0.0:1.0	.	12;431;415;526	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	S	431;415;526;526;415;493;12;11	ENSP00000315841:I431S;ENSP00000348938:I415S;ENSP00000310309:I526S;ENSP00000425394:I526S;ENSP00000421183:I415S;ENSP00000420855:I493S;ENSP00000430150:I12S	ENSP00000310309:I526S	I	+	2	0	ABLIM3	148607563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.130000	0.77235	2.142000	0.66516	0.459000	0.35465	ATT		0.577	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		25	237	0	0	0	1	0	25	237				
LMO3	55885	broad.mit.edu	37	12	16757805	16757805	+	5'UTR	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:16757805T>G	ENST00000320122.6	-	0	508				LMO3_ENST00000537568.1_Intron|LMO3_ENST00000541295.1_Intron|LMO3_ENST00000541846.1_Intron|LMO3_ENST00000441439.2_Intron|LMO3_ENST00000447609.1_Intron|LMO3_ENST00000534946.1_Intron|LMO3_ENST00000537304.1_Intron|LMO3_ENST00000540848.1_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000354662.1_Intron|LMO3_ENST00000535535.1_Intron|LMO3_ENST00000261169.6_Missense_Mutation_p.S7R	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TTACCAAAACTTTTCTCCTTT	0.478																																						ENST00000261169.6																			0				endometrium(2)|large_intestine(2)|skin(1)	5						c.(19-21)Agt>Cgt		LIM domain only 3 (rhombotin-like 2)							147.0	131.0	136.0					12																	16757805		876	1991	2867	SO:0001623	5_prime_UTR_variant	55885				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	g.chr12:16757805T>G	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.-15A>C	12.37:g.16757805T>G						LMO3_ENST00000354662.1_Intron|LMO3_ENST00000534946.1_Intron|LMO3_ENST00000441439.2_Intron|LMO3_ENST00000447609.1_Intron|LMO3_ENST00000541295.1_Intron|LMO3_ENST00000540848.1_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000541846.1_Intron|LMO3_ENST00000535535.1_Intron|LMO3_ENST00000537304.1_Intron|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000320122.6_5'UTR	p.S7R			Q8TAP4	LMO3_HUMAN			1	276	-		Hepatocellular(102;0.244)	0					B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	ENST00000320122.6	37	c.19A>C	CCDS8678.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090514	0.36855	.	.	ENSG00000048540	ENST00000261169	T	0.30448	1.53	4.61	4.61	0.57282	.	0.120203	0.53938	D	0.000049	T	0.19248	0.0462	.	.	.	0.80722	D	1	B	0.32245	0.361	B	0.27500	0.08	T	0.06445	-1.0826	9	0.18710	T	0.47	.	12.0361	0.53425	0.0:0.0:0.0:1.0	.	7	Q58A67	.	R	7	ENSP00000261169:S7R	ENSP00000261169:S7R	S	-	1	0	LMO3	16649072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.948000	0.70249	1.846000	0.53633	0.397000	0.26171	AGT		0.478	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640		11	465	0	0	0	1	0	11	465				
STK33	65975	broad.mit.edu	37	11	8414220	8414220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8414220T>G	ENST00000447869.1	-	12	2300	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000358872.3_Missense_Mutation_p.K274T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000534493.1_Missense_Mutation_p.K420T|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	461					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAAGTTGTCCTTACTGGTTGC	0.393																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(1381-1383)aAg>aCg		serine/threonine kinase 33							119.0	110.0	113.0					11																	8414220		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8414220T>G	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1382A>C	11.37:g.8414220T>G	ENSP00000416750:p.Lys461Thr					STK33_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.K420T|STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000358872.3_Missense_Mutation_p.K274T	p.K461T			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	12	2300	-			461					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.1382A>C	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357246	0.61293	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.71817	-0.55;-0.55;-0.55;-0.6;2.02;2.02;-0.54	5.8	2.13	0.27403	.	0.169760	0.33572	N	0.004776	T	0.48003	0.1476	N	0.22421	0.69	0.22354	N	0.99918	P	0.43477	0.808	B	0.39706	0.307	T	0.33574	-0.9863	10	0.16896	T	0.51	.	5.0636	0.14570	0.3919:0.0:0.1627:0.4453	.	461	Q9BYT3	STK33_HUMAN	T	461;461;461;274;395;150;420	ENSP00000416750:K461T;ENSP00000320754:K461T;ENSP00000379905:K461T;ENSP00000351743:K274T;ENSP00000379906:K395T;ENSP00000415688:K150T;ENSP00000436418:K420T	ENSP00000320754:K461T	K	-	2	0	STK33	8370796	0.665000	0.27466	0.997000	0.53966	0.263000	0.26337	0.601000	0.24119	0.986000	0.38683	0.533000	0.62120	AAG		0.393	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		92	316	0	0	0	1	0	92	316				
C6orf15	29113	broad.mit.edu	37	6	31080049	31080049	+	Silent	SNP	G	G	A	rs145694102	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31080049G>A	ENST00000259870.3	-	2	90	c.87C>T	c.(85-87)atC>atT	p.I29I	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	29					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCACAACACCGATGCTCCGGG	0.557																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(85-87)atC>atT		chromosome 6 open reading frame 15		G		0,4276		0,0,2138	87.0	104.0	98.0		87	1.9	0.2	6	dbSNP_134	98	2,8512		0,2,4255	no	coding-synonymous	C6orf15	NM_014070.2		0,2,6393	AA,AG,GG		0.0235,0.0,0.0156		29/326	31080049	2,12788	2138	4257	6395	SO:0001819	synonymous_variant	29113							g.chr6:31080049G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.87C>T	6.37:g.31080049G>A							p.I29I	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	90	-			29					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.87C>T	CCDS4693.1																																																																																				0.557	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		74	354	0	0	0	1	0	74	354				
RNF113B	140432	broad.mit.edu	37	13	98828993	98828993	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98828993G>A	ENST00000267291.6	-	1	526	c.498C>T	c.(496-498)aaC>aaT	p.N166N	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	166							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCGAGGAGGAGTTGCCCATGG	0.637																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(496-498)aaC>aaT		ring finger protein 113B							83.0	70.0	74.0					13																	98828993		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98828993G>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.498C>T	13.37:g.98828993G>A						FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	p.N166N	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	526	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		166					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.498C>T	CCDS9486.1																																																																																				0.637	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		69	297	0	0	0	1	0	69	297				
ACACB	32	broad.mit.edu	37	12	109637282	109637282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637282G>A	ENST00000338432.7	+	18	2822	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S	ACACB_ENST00000377854.5_Silent_p.S901S|ACACB_ENST00000377848.3_Silent_p.S901S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	901	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GATCCCCCTCGGCTGGGAAGC	0.582																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2701-2703)tcG>tcA		acetyl-CoA carboxylase beta	Biotin(DB00121)						115.0	111.0	112.0					12																	109637282		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109637282G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2703G>A	12.37:g.109637282G>A						ACACB_ENST00000377848.3_Silent_p.S901S|ACACB_ENST00000377854.5_Silent_p.S901S	p.S901S			O00763	ACACB_HUMAN			18	2822	+			901			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2703G>A	CCDS31898.1																																																																																				0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		82	417	0	0	0	1	0	82	417				
TENM4	26011	broad.mit.edu	37	11	78372542	78372542	+	Silent	SNP	G	G	A	rs376868021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78372542G>A	ENST00000278550.7	-	33	7965	c.7503C>T	c.(7501-7503)taC>taT	p.Y2501Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2501					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGATGAGCTCGTAGGAGGGTT	0.517																																						ENST00000278550.7																			0											c.(7501-7503)taC>taT		teneurin transmembrane protein 4		G		1,4015		0,1,2007	99.0	96.0	97.0		7503	-9.0	0.2	11		97	0,8352		0,0,4176	no	coding-synonymous	ODZ4	NM_001098816.2		0,1,6183	AA,AG,GG		0.0,0.0249,0.0081		2501/2770	78372542	1,12367	2008	4176	6184	SO:0001819	synonymous_variant	26011							g.chr11:78372542G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7503C>T	11.37:g.78372542G>A							p.Y2501Y	NM_001098816.2	NP_001092286.2					33	7965	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7503C>T	CCDS44688.1																																																																																				0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			9	63	0	0	0	1	0	9	63				
PYHIN1	149628	broad.mit.edu	37	1	158911953	158911953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158911953A>G	ENST00000368140.1	+	5	1011	c.766A>G	c.(766-768)Aac>Gac	p.N256D	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D|PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	256	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAAGGTTTTAAACATCAACTT	0.328																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(766-768)Aac>Gac		pyrin and HIN domain family, member 1							58.0	61.0	60.0					1																	158911953		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158911953A>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.766A>G	1.37:g.158911953A>G	ENSP00000357122:p.Asn256Asp					PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D	p.N256D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			5	1011	+	all_hematologic(112;0.0378)		256			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.766A>G	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	6.016	0.371365	0.11409	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	2.85	-1.2	0.09554	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03871	0.0109	L	0.41961	1.31	0.09310	N	0.999999	P;P;P;B	0.43477	0.808;0.697;0.808;0.444	B;P;B;B	0.46026	0.357;0.501;0.357;0.373	T	0.29336	-1.0015	9	0.19590	T	0.45	.	3.011	0.06044	0.4912:0.233:0.2758:0.0	.	247;256;247;256	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	D	256;247;256;247	ENSP00000357122:N256D;ENSP00000357120:N247D;ENSP00000376083:N256D;ENSP00000376082:N247D	ENSP00000357120:N247D	N	+	1	0	PYHIN1	157178577	0.002000	0.14202	0.003000	0.11579	0.076000	0.17211	0.161000	0.16481	-0.411000	0.07530	0.533000	0.62120	AAC		0.328	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		86	265	0	0	0	1	0	86	265				
CACNG5	27091	broad.mit.edu	37	17	64881352	64881352	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881352T>C	ENST00000533854.1	+	6	1060	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	275				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTCTTCACCCTGCTGAGCCTC	0.632																																						ENST00000533854.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(823-825)Tgc>Cgc		calcium channel, voltage-dependent, gamma subunit 5							58.0	49.0	52.0					17																	64881352		2200	4293	6493	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64881352T>C	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.823T>C	17.37:g.64881352T>C	ENSP00000436836:p.Cys275Arg					CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R	p.C275R			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		6	1060	+			275	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.823T>C	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729119	0.69074	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.55413	0.52;0.52	3.27	3.27	0.37495	.	.	.	.	.	T	0.35682	0.0940	N	0.19112	0.55	0.80722	D	1	P	0.47350	0.894	B	0.38562	0.276	T	0.41963	-0.9479	9	0.87932	D	0	.	11.8613	0.52467	0.0:0.0:0.0:1.0	.	275	Q9UF02	CCG5_HUMAN	R	275	ENSP00000436836:C275R;ENSP00000303092:C275R	ENSP00000303092:C275R	C	+	1	0	CACNG5	62311814	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	7.114000	0.77103	1.744000	0.51775	0.491000	0.48974	TGC		0.632	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		65	324	0	0	0	1	0	65	324				
NOD2	64127	broad.mit.edu	37	16	50745492	50745492	+	Missense_Mutation	SNP	G	G	A	rs104895436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745492G>A	ENST00000300589.2	+	4	1775	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	557	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCTGTGGGGCCTGGGCATG	0.637																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1669-1671)gGc>gAc		nucleotide-binding oligomerization domain containing 2							34.0	34.0	34.0					16																	50745492		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745492G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1670G>A	16.37:g.50745492G>A	ENSP00000300589:p.Gly557Asp						p.G557D	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1775	+		all_cancers(37;0.0156)	557			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1670G>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593940	0.66219	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.74526	-0.85	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000008	D	0.88804	0.6536	M	0.93106	3.38	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91025	0.4860	10	0.66056	D	0.02	.	14.1217	0.65192	0.0:0.0:1.0:0.0	.	341;530;557	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	D	530;557	ENSP00000300589:G557D	ENSP00000300589:G557D	G	+	2	0	NOD2	49302993	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.344000	0.65981	2.399000	0.81585	0.556000	0.70494	GGC		0.637	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		49	188	0	0	0	1	0	49	188				
TMEM225	338661	broad.mit.edu	37	11	123753963	123753963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123753963G>A	ENST00000375026.2	-	4	776	c.560C>T	c.(559-561)tCt>tTt	p.S187F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	187					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCTTCGATAGAATTCTCAGA	0.433																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(559-561)tCt>tTt		transmembrane protein 225							130.0	121.0	124.0					11																	123753963		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753963G>A	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.560C>T	11.37:g.123753963G>A	ENSP00000364166:p.Ser187Phe						p.S187F	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	776	-			187						Missense_Mutation	SNP	ENST00000375026.2	37	c.560C>T	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963711	0.18583	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.37752	1.22;1.18	3.76	1.77	0.24775	.	0.346611	0.21360	N	0.075801	T	0.30355	0.0762	L	0.27053	0.805	0.09310	N	1	D	0.54601	0.967	P	0.49561	0.615	T	0.10660	-1.0620	10	0.87932	D	0	-9.4676	8.4555	0.32897	0.0:0.0:0.5761:0.4239	.	187	Q6GV28	TM225_HUMAN	F	187;137	ENSP00000364166:S187F;ENSP00000431282:S137F	ENSP00000364166:S187F	S	-	2	0	TMEM225	123259173	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.700000	0.25601	0.504000	0.28082	-0.268000	0.10319	TCT		0.433	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		66	311	0	0	0	1	0	66	311				
MED20	9477	broad.mit.edu	37	6	41874828	41874828	+	Silent	SNP	C	C	T	rs200052512		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41874828C>T	ENST00000265350.4	-	4	701	c.621G>A	c.(619-621)ccG>ccA	p.P207P	MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	207				Missing (in Ref. 1; AAD16169). {ECO:0000305}.	gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCCAGCCACCGGCACCTGCT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18113	0.001		0.0	False		,,,				2504	0.0					ENST00000265350.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5						c.(619-621)ccG>ccA		mediator complex subunit 20							67.0	59.0	61.0					6																	41874828		2203	4300	6503	SO:0001819	synonymous_variant	9477				regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding	g.chr6:41874828C>T	AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.621G>A	6.37:g.41874828C>T						MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_3'UTR	p.P207P	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	701	-	Colorectal(47;0.121)		207	Missing (in Ref. 1; AAD16169).				B4DE08|O95821|Q5T8J4|Q9Y429	Silent	SNP	ENST00000265350.4	37	c.621G>A	CCDS4862.1																																																																																				0.572	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040539.1	NM_004275		54	273	0	0	0	1	0	54	273				
USP38	84640	broad.mit.edu	37	4	144141476	144141476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144141476C>T	ENST00000307017.4	+	10	3502	c.2996C>T	c.(2995-2997)gCc>gTc	p.A999V		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	999					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGAGCCCGGGCCCTCCAAGCT	0.428																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(2995-2997)gCc>gTc		ubiquitin specific peptidase 38							63.0	67.0	66.0					4																	144141476		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144141476C>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2996C>T	4.37:g.144141476C>T	ENSP00000303434:p.Ala999Val						p.A999V	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			10	3502	+	all_hematologic(180;0.158)		999					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.2996C>T	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922702	0.92319	.	.	ENSG00000170185	ENST00000307017	T	0.09911	2.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00115	-1.2039	10	0.37606	T	0.19	-10.3075	20.2043	0.98273	0.0:1.0:0.0:0.0	.	999	Q8NB14	UBP38_HUMAN	V	999	ENSP00000303434:A999V	ENSP00000303434:A999V	A	+	2	0	USP38	144360926	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	2.779000	0.95612	0.591000	0.81541	GCC		0.428	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		64	300	0	0	0	1	0	64	300				
PPP2R2A	5520	broad.mit.edu	37	8	26227791	26227791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26227791G>T	ENST00000380737.3	+	10	1535	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	402					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CAAGTGGCAAGCGAAAGAAAG	0.448																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(1204-1206)aaG>aaT		protein phosphatase 2, regulatory subunit B, alpha							80.0	79.0	79.0					8																	26227791		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26227791G>T	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1206G>T	8.37:g.26227791G>T	ENSP00000370113:p.Lys402Asn					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	p.K402N	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1535	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.1206G>T	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978364	0.53720	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.47528	1.46;0.84;1.45	5.25	4.37	0.52481	WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67822	0.2934	M	0.86028	2.79	0.58432	D	0.999999	P;B;D	0.60575	0.885;0.182;0.988	B;B;D	0.65233	0.365;0.032;0.933	T	0.70988	-0.4722	10	0.59425	D	0.04	-20.1387	12.1547	0.54070	0.1307:0.0:0.8693:0.0	.	412;402;403	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	N	402;181;412	ENSP00000370113:K402N;ENSP00000430320:K181N;ENSP00000325074:K412N	ENSP00000325074:K412N	K	+	3	2	PPP2R2A	26283708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.670000	0.37502	2.885000	0.99019	0.655000	0.94253	AAG		0.448	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		12	165	1	0	6.40141e-05	1	6.5221e-05	12	165				
DOCK7	85440	broad.mit.edu	37	1	62953075	62953075	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62953075G>T	ENST00000340370.5	-	42	5426	c.5409C>A	c.(5407-5409)ggC>ggA	p.G1803G	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1834	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTACCTCCCAGCCAGTACTCT	0.348																																						ENST00000340370.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(5407-5409)ggC>ggA		dedicator of cytokinesis 7							67.0	73.0	71.0					1																	62953075		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62953075G>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5409C>A	1.37:g.62953075G>T						DOCK7_ENST00000251157.5_Intron	p.G1803G	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN			42	5426	-			1834			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.5409C>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	7.712	0.695324	0.15106	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.76219	0.3957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	.	19.5557	0.95347	0.0:0.0:1.0:0.0	.	.	.	.	M	997	.	.	L	-	1	2	DOCK7	62725663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.999000	0.88496	2.628000	0.89032	0.586000	0.80456	CTG		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		19	281	1	0	1.33834e-09	1	1.40959e-09	19	281				
LRRN2	10446	broad.mit.edu	37	1	204587774	204587774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587774G>A	ENST00000367175.1	-	1	3559	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	LRRN2_ENST00000367177.3_Silent_p.A449A|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Silent_p.A449A|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	449	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTTCGGGTTCGGCCAGTGCCC	0.642																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1345-1347)gcC>gcT		leucine rich repeat neuronal 2							58.0	49.0	52.0					1																	204587774		2203	4300	6503	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587774G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1347C>T	1.37:g.204587774G>A						LRRN2_ENST00000367177.3_Silent_p.A449A|LRRN2_ENST00000367176.3_Silent_p.A449A	p.A449A			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3559	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		449			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.1347C>T	CCDS1448.1																																																																																				0.642	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		6	273	0	0	0	1	0	6	273				
POLE	5426	broad.mit.edu	37	12	133201511	133201511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133201511C>T	ENST00000320574.5	-	48	6770	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2243					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.A2243S(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGGTGAGGGCGAAGTCTCCC	0.657								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			2	Substitution - Missense(2)	p.A2243S(2)	lung(2)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6727-6729)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							96.0	95.0	96.0					12																	133201511		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133201511C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6727G>A	12.37:g.133201511C>T	ENSP00000322570:p.Ala2243Thr					POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	p.A2243T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	48	6770	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2243					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6727G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.564026	0.03939	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02421	4.3;4.3;4.3	5.52	-8.86	0.00795	.	1.382530	0.04397	N	0.363543	T	0.01189	0.0039	N	0.03238	-0.38	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.48906	-0.8993	10	0.15952	T	0.53	.	6.3917	0.21591	0.3421:0.2121:0.0:0.4458	.	2243;453	Q07864;B3KS74	DPOE1_HUMAN;.	T	453;2243;2254;213;2216	ENSP00000322570:A2243T;ENSP00000406383:A2254T;ENSP00000445753:A2216T	ENSP00000322473:A213T	A	-	1	0	POLE	131711584	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.816000	0.01720	-1.280000	0.02402	-0.258000	0.10820	GCC		0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		39	186	0	0	0	1	0	39	186				
SLC25A46	91137	broad.mit.edu	37	5	110083868	110083868	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110083868C>A	ENST00000355943.3	+	5	593	c.467C>A	c.(466-468)cCt>cAt	p.P156H	SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H|SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P10H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	156					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		ATTTAGGGACCTAGAGCCCTG	0.358																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(466-468)cCt>cAt		solute carrier family 25, member 46							132.0	129.0	130.0					5																	110083868		2202	4300	6502	SO:0001583	missense	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110083868C>A	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.467C>A	5.37:g.110083868C>A	ENSP00000348211:p.Pro156His					SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H|SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P10H	p.P156H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	5	593	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	156					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	c.467C>A	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322865	0.41096	.	.	ENSG00000164209	ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.44	4.57	0.56435	Mitochondrial carrier domain (2);	0.302356	0.36815	N	0.002400	T	0.74245	0.3691	L	0.56769	1.78	0.41757	D	0.989698	P;P	0.51653	0.947;0.947	P;B	0.44561	0.453;0.408	T	0.74743	-0.3562	10	0.45353	T	0.12	-10.1322	10.0431	0.42171	0.0:0.8448:0.0:0.1552	.	65;156	B4DY98;Q96AG3	.;S2546_HUMAN	H	65;156;10;156;10	ENSP00000424136:P65H;ENSP00000348211:P156H;ENSP00000399717:P156H;ENSP00000425708:P10H	ENSP00000348211:P156H	P	+	2	0	SLC25A46	110111767	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.155000	0.58131	1.296000	0.44742	0.563000	0.77884	CCT		0.358	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		20	309	1	0	7.45023e-12	1	7.97024e-12	20	309				
LINC00202-2	731789	broad.mit.edu	37	10	26939577	26939577	+	lincRNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26939577A>G	ENST00000544033.1	+	0	5510					NR_026794.1				long intergenic non-protein coding RNA 202-2																		CACATGCTGAAACATGGAAGG	0.562																																						ENST00000544033.1																			0																																																			0							g.chr10:26939577A>G			10p12.1	2013-07-05			ENSG00000231976	ENSG00000231976		"""Long non-coding RNAs"""	44917	non-coding RNA	RNA, long non-coding							Standard	NR_026794		Approved		uc001isu.4		OTTHUMG00000017842		10.37:g.26939577A>G								NR_026794.1						0	5510	+									RNA	SNP	ENST00000544033.1	37																																																																																						0.562	LINC00202-2-201	KNOWN	basic	lincRNA	lincRNA		NR_026794		76	296	0	0	0	1	0	76	296				
BAG6	7917	broad.mit.edu	37	6	31609612	31609612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31609612G>A	ENST00000375964.6	-	16	2669	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*	BAG6_ENST00000404765.2_Nonsense_Mutation_p.R816*|BAG6_ENST00000439687.2_Nonsense_Mutation_p.R654*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.R780*|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Nonsense_Mutation_p.R780*|BAG6_ENST00000362049.6_Nonsense_Mutation_p.R780*	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	786					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AAGAAGGATCGCAGCTGGGGC	0.562																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2446-2448)Cga>Tga		BCL2-associated athanogene 6							96.0	110.0	105.0					6																	31609612		1510	2709	4219	SO:0001587	stop_gained	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31609612G>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2356C>T	6.37:g.31609612G>A	ENSP00000365131:p.Arg786*					BAG6_ENST00000375964.6_Nonsense_Mutation_p.R786*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.R780*|BAG6_ENST00000362049.6_Nonsense_Mutation_p.R780*|BAG6_ENST00000439687.2_Nonsense_Mutation_p.R654*|BAG6_ENST00000211379.5_Nonsense_Mutation_p.R780*	p.R816*			P46379	BAG6_HUMAN			17	2735	-			786					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Nonsense_Mutation	SNP	ENST00000375964.6	37	c.2446C>T	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	G	39	7.478227	0.98309	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	.	.	.	5.58	5.58	0.84498	.	0.558485	0.17189	N	0.183569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9859	0.53147	0.0:0.0:0.7226:0.2774	.	.	.	.	X	780;786;780;816;654;780	.	ENSP00000211379:R780X	R	-	1	2	BAG6	31717591	0.291000	0.24352	0.998000	0.56505	0.969000	0.65631	0.977000	0.29475	2.649000	0.89929	0.650000	0.86243	CGA		0.562	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		119	578	0	0	0	1	0	119	578				
SEMA5B	54437	broad.mit.edu	37	3	122632714	122632714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122632714C>T	ENST00000357599.3	-	15	2509	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R708Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R762Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	708	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCGTTCCTCCCGGCTCTTGCC	0.662																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(2122-2124)cGg>cAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							52.0	56.0	55.0					3																	122632714		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122632714C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2123G>A	3.37:g.122632714C>T	ENSP00000350215:p.Arg708Gln					SEMA5B_ENST00000357599.3_Missense_Mutation_p.R708Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R762Q	p.R708Q			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	15	2426	-			708			TSP type-1 1.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2123G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001554	0.93227	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.37507	1.11	0.58432	D	0.999997	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.68353	0.897;0.937;0.957	T	0.55872	-0.8072	10	0.39692	T	0.17	.	17.513	0.87765	0.0:1.0:0.0:0.0	.	650;708;708	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	708;708;650;762;708	ENSP00000350215:R708Q;ENSP00000195173:R708Q;ENSP00000389588:R762Q;ENSP00000377208:R708Q	ENSP00000195173:R708Q	R	-	2	0	SEMA5B	124115404	1.000000	0.71417	0.994000	0.49952	0.855000	0.48748	7.633000	0.83260	2.614000	0.88457	0.555000	0.69702	CGG		0.662	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		114	440	0	0	0	1	0	114	440				
OR4N2	390429	broad.mit.edu	37	14	20296521	20296521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296521A>G	ENST00000315947.1	+	1	914	c.914A>G	c.(913-915)cAc>cGc	p.H305R	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTAATAAGCACATAGCCTGA	0.343																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(913-915)cAc>cGc		olfactory receptor, family 4, subfamily N, member 2							23.0	25.0	24.0					14																	20296521		2187	4226	6413	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296521A>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.914A>G	14.37:g.20296521A>G	ENSP00000319601:p.His305Arg					OR4N2_ENST00000568211.1_3'UTR	p.H305R	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	914	+	all_cancers(95;0.00108)		305					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.914A>G	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	5.566	0.289193	0.10513	.	.	ENSG00000176294	ENST00000315947	T	0.00001	9.91	4.57	2.05	0.26809	.	0.281551	0.25566	N	0.029790	T	0.00039	0.0001	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.01192	-1.1423	10	0.22706	T	0.39	.	6.2231	0.20693	0.674:0.1664:0.0:0.1596	.	305	Q8NGD1	OR4N2_HUMAN	R	305	ENSP00000319601:H305R	ENSP00000319601:H305R	H	+	2	0	OR4N2	19366361	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.702000	0.37836	0.301000	0.22738	0.482000	0.46254	CAC		0.343	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			35	206	0	0	0	1	0	35	206				
CLSTN1	22883	broad.mit.edu	37	1	9790629	9790629	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9790629G>A	ENST00000377298.4	-	19	3675	c.2883C>T	c.(2881-2883)ggC>ggT	p.G961G	CLSTN1_ENST00000377288.3_Silent_p.G942G|CLSTN1_ENST00000361311.4_Silent_p.G951G|CLSTN1_ENST00000477264.1_5'UTR	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	961					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGGGGGTCGCCCTGCTCCC	0.637																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(2881-2883)ggC>ggT		calsyntenin 1							97.0	82.0	87.0					1																	9790629		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9790629G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2883C>T	1.37:g.9790629G>A						CLSTN1_ENST00000377288.3_Silent_p.G942G|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Silent_p.G951G	p.G961G	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	19	3675	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	961					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.2883C>T	CCDS30580.1																																																																																				0.637	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			15	407	0	0	0	1	0	15	407				
IRS2	8660	broad.mit.edu	37	13	110435097	110435097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110435097T>C	ENST00000375856.3	-	1	3818	c.3304A>G	c.(3304-3306)Acg>Gcg	p.T1102A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1102					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGCCCGACGTCGGGCTGGCC	0.701																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3304-3306)Acg>Gcg		insulin receptor substrate 2							5.0	7.0	6.0					13																	110435097		2058	4081	6139	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110435097T>C	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3304A>G	13.37:g.110435097T>C	ENSP00000365016:p.Thr1102Ala						p.T1102A	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	3818	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1102					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3304A>G	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	T	1.291	-0.607717	0.03717	.	.	ENSG00000185950	ENST00000375856	T	0.29917	1.55	3.92	2.74	0.32292	.	0.470757	0.18108	U	0.151454	T	0.19087	0.0458	L	0.38838	1.175	0.09310	N	1	B	0.20988	0.05	B	0.17979	0.02	T	0.17379	-1.0371	10	0.27785	T	0.31	-7.5024	3.2026	0.06655	0.174:0.1998:0.0:0.6262	.	1102	Q9Y4H2	IRS2_HUMAN	A	1102	ENSP00000365016:T1102A	ENSP00000365016:T1102A	T	-	1	0	IRS2	109233098	0.984000	0.35163	0.116000	0.21606	0.048000	0.14542	0.719000	0.25881	0.579000	0.29504	0.524000	0.50904	ACG		0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		16	61	0	0	0	1	0	16	61				
SFTPA1	653509	broad.mit.edu	37	10	81371565	81371565	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81371565C>T	ENST00000398636.3	+	0	122				SFTPA1_ENST00000428376.2_5'UTR|SFTPA1_ENST00000419470.2_Missense_Mutation_p.A10V|SFTPA1_ENST00000372308.3_5'UTR|SFTPA1_ENST00000372313.5_Intron	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1						lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCAGGAGCAGCGACTGGACCC	0.612																																						ENST00000419470.2																			0				endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(28-30)gCg>gTg		surfactant protein A1							163.0	158.0	160.0					10																	81371565		2203	4296	6499	SO:0001623	5_prime_UTR_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81371565C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.-17C>T	10.37:g.81371565C>T						SFTPA1_ENST00000398636.3_5'UTR|SFTPA1_ENST00000372308.3_5'UTR|SFTPA1_ENST00000428376.2_5'UTR|SFTPA1_ENST00000372313.5_Intron	p.A10V			Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	105	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		0					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.29C>T	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341619	0.24339	.	.	ENSG00000122852	ENST00000419470	D	0.86497	-2.13	2.46	0.472	0.16758	.	.	.	.	.	T	0.69187	0.3083	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.54997	-0.8209	9	0.26408	T	0.33	.	3.7365	0.08512	0.0:0.5516:0.2856:0.1628	.	10	G5E9J3	.	V	10	ENSP00000397082:A10V	ENSP00000397082:A10V	A	+	2	0	SFTPA1	81041571	0.001000	0.12720	0.012000	0.15200	0.017000	0.09413	0.070000	0.14573	0.129000	0.18514	0.448000	0.29417	GCG		0.612	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		38	739	0	0	0	1	0	38	739				
SGSM2	9905	broad.mit.edu	37	17	2265527	2265527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2265527C>A	ENST00000426855.2	+	4	596	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	SGSM2_ENST00000268989.3_Missense_Mutation_p.L141M|SGSM2_ENST00000574563.1_Missense_Mutation_p.L141M	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	141	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGAGAAAGTTCTGGACAAGGT	0.627																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(421-423)Ctg>Atg		small G protein signaling modulator 2							93.0	94.0	94.0					17																	2265527		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2265527C>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.421C>A	17.37:g.2265527C>A	ENSP00000415107:p.Leu141Met					SGSM2_ENST00000574563.1_Missense_Mutation_p.L141M|SGSM2_ENST00000574650.1_3'UTR|SGSM2_ENST00000426855.2_Missense_Mutation_p.L141M	p.L141M	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	4	598	+			141			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.421C>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612666	0.28712	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.67523	-0.27;-0.27	4.67	3.67	0.42095	RUN (3);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.73319	2.225	0.80722	D	1	P;B;B	0.43662	0.814;0.359;0.421	B;B;B	0.44133	0.41;0.442;0.176	T	0.71560	-0.4556	10	0.87932	D	0	-6.9354	11.3737	0.49715	0.0:0.9069:0.0:0.0931	.	141;141;141	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	M	141	ENSP00000268989:L141M;ENSP00000415107:L141M	ENSP00000268989:L141M	L	+	1	2	SGSM2	2212277	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	2.664000	0.46783	1.028000	0.39785	0.205000	0.17691	CTG		0.627	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		17	599	1	0	0.00121646	1	0.00122896	17	599				
GK2	2712	broad.mit.edu	37	4	80329323	80329323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80329323G>A	ENST00000358842.3	-	1	49	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCCCACCAACGGCCCCACAGC	0.572																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(31-33)cCg>cTg		glycerol kinase 2							31.0	32.0	32.0					4																	80329323		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329323G>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.32C>T	4.37:g.80329323G>A	ENSP00000351706:p.Pro11Leu						p.P11L	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	49	-			11					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.32C>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645546	0.29246	.	.	ENSG00000196475	ENST00000358842	T	0.14640	2.49	3.74	2.89	0.33648	.	0.183018	0.48286	D	0.000186	T	0.19046	0.0457	L	0.56280	1.765	0.80722	D	1	D	0.58970	0.984	P	0.50109	0.631	T	0.01440	-1.1354	10	0.66056	D	0.02	-6.7856	9.5498	0.39304	0.1063:0.0:0.8937:0.0	.	11	Q14410	GLPK2_HUMAN	L	11	ENSP00000351706:P11L	ENSP00000351706:P11L	P	-	2	0	GK2	80548347	1.000000	0.71417	0.904000	0.35570	0.600000	0.36913	5.242000	0.65389	1.160000	0.42584	0.460000	0.39030	CCG		0.572	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		28	188	0	0	0	1	0	28	188				
TCF4	6925	broad.mit.edu	37	18	53018198	53018198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53018198G>T	ENST00000356073.4	-	7	1017	c.406C>A	c.(406-408)Cca>Aca	p.P136T	TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000354452.3_Missense_Mutation_p.P136T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T|TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	136					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGGTTCCTGGGTTGCCCATA	0.453																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(406-408)Cca>Aca		transcription factor 4							109.0	104.0	106.0					18																	53018198		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:53018198G>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.406C>A	18.37:g.53018198G>T	ENSP00000348374:p.Pro136Thr					TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000356073.4_Missense_Mutation_p.P136T|TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T	p.P136T	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	7	1017	-			136					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.406C>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271410	0.40194	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.57	5.57	0.84162	.	0.151693	0.46145	D	0.000317	T	0.56337	0.1978	L	0.39245	1.2	0.32176	N	0.58106	B;B;B;B;B;B;B	0.25850	0.058;0.0;0.058;0.001;0.019;0.136;0.136	B;B;B;B;B;B;B	0.30782	0.076;0.002;0.102;0.0;0.015;0.076;0.12	T	0.65541	-0.6143	10	0.72032	D	0.01	-26.7506	13.6319	0.62200	0.0:0.0:0.8448:0.1552	.	112;136;112;238;136;94;65	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	T	136;136;94;112;112;65;6;238	ENSP00000346440:P136T;ENSP00000348374:P136T;ENSP00000439656:P94T;ENSP00000445202:P112T;ENSP00000440731:P112T;ENSP00000441562:P65T;ENSP00000439827:P6T;ENSP00000381382:P238T	ENSP00000346440:P136T	P	-	1	0	TCF4	51169196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.781000	0.95711	0.655000	0.94253	CCA		0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		75	377	1	0	8.50452e-49	1	1.05053e-48	75	377				
INCA1	388324	broad.mit.edu	37	17	4893489	4893489	+	Missense_Mutation	SNP	C	C	T	rs200914054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4893489C>T	ENST00000574617.1	-	4	471	c.116G>A	c.(115-117)cGt>cAt	p.R39H	CAMTA2_ENST00000572543.1_5'Flank|INCA1_ENST00000396829.2_Missense_Mutation_p.R39H|CAMTA2_ENST00000381311.5_5'Flank|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|RP5-1050D4.5_ENST00000574260.1_RNA|RP5-1050D4.4_ENST00000575985.1_RNA|CAMTA2_ENST00000358183.4_5'Flank|CAMTA2_ENST00000361571.5_5'Flank|INCA1_ENST00000355025.3_Missense_Mutation_p.R39H|INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|CAMTA2_ENST00000348066.3_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	39					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						ATCTCCATAACGCTGGGGCAT	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		19965	0.0		0.001	False		,,,				2504	0.0					ENST00000396829.2																			0				upper_aerodigestive_tract(1)	1						c.(115-117)cGt>cAt		inhibitor of CDK, cyclin A1 interacting protein 1							96.0	80.0	86.0					17																	4893489		2203	4300	6503	SO:0001583	missense	388324					nucleus		g.chr17:4893489C>T	AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.116G>A	17.37:g.4893489C>T	ENSP00000458316:p.Arg39His					INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|INCA1_ENST00000574617.1_Missense_Mutation_p.R39H|INCA1_ENST00000355025.3_Missense_Mutation_p.R39H	p.R39H	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN			5	682	-			39					Q6J273|Q6PKN9	Missense_Mutation	SNP	ENST00000574617.1	37	c.116G>A	CCDS54074.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	16.04	3.010900	0.54361	.	.	ENSG00000196388	ENST00000396829;ENST00000355025	.	.	.	4.37	-1.72	0.08107	.	0.578202	0.15947	N	0.236916	T	0.14874	0.0359	N	0.11560	0.145	0.23138	N	0.998238	B;B	0.15141	0.005;0.012	B;B	0.10450	0.003;0.005	T	0.13335	-1.0513	9	0.33141	T	0.24	-0.2663	4.4816	0.11769	0.0:0.3416:0.1808:0.4776	.	39;39	Q0VD86-2;Q0VD86	.;INCA1_HUMAN	H	39	.	ENSP00000347129:R39H	R	-	2	0	INCA1	4834213	0.000000	0.05858	0.802000	0.32245	0.882000	0.50991	-1.769000	0.01792	-0.232000	0.09811	-0.147000	0.13772	CGT		0.527	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1	NM_213726		54	224	0	0	0	1	0	54	224				
MYOG	4656	broad.mit.edu	37	1	203054860	203054860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203054860G>A	ENST00000241651.4	-	1	304	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	77					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CACGGACACCGACTTCCTCTT	0.672																																						ENST00000241651.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						c.(229-231)tCg>tTg		myogenin (myogenic factor 4)							60.0	66.0	64.0					1																	203054860		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054860G>A	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.230C>T	1.37:g.203054860G>A	ENSP00000241651:p.Ser77Leu						p.S77L	NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN			1	304	-			77					Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.230C>T	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724384	0.68959	.	.	ENSG00000122180	ENST00000241651	T	0.80033	-1.33	5.69	5.69	0.88448	Myogenic basic muscle-specific protein (2);Helix-loop-helix DNA-binding (1);	0.102169	0.64402	D	0.000003	T	0.78997	0.4372	L	0.57536	1.79	0.46298	D	0.998971	P	0.44429	0.835	B	0.40066	0.318	T	0.82283	-0.0534	10	0.87932	D	0	-18.011	16.1007	0.81169	0.0:0.1337:0.8663:0.0	.	77	P15173	MYOG_HUMAN	L	77	ENSP00000241651:S77L	ENSP00000241651:S77L	S	-	2	0	MYOG	201321483	1.000000	0.71417	0.987000	0.45799	0.836000	0.47400	7.896000	0.87350	2.683000	0.91414	0.563000	0.77884	TCG		0.672	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		221	602	0	0	0	1	0	221	602				
RNF31	55072	broad.mit.edu	37	14	24619877	24619877	+	Missense_Mutation	SNP	C	C	T	rs375081171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619877C>T	ENST00000324103.6	+	8	1588	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	RNF31_ENST00000382687.3_Missense_Mutation_p.S272L|RNF31_ENST00000559275.1_Missense_Mutation_p.S272L|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	423	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TTCTGCAACTCGAGCCCTGGC	0.557																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1267-1269)tCg>tTg		ring finger protein 31							131.0	145.0	140.0					14																	24619877		2009	4173	6182	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619877C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1268C>T	14.37:g.24619877C>T	ENSP00000315112:p.Ser423Leu					RNF31_ENST00000382687.3_Missense_Mutation_p.S272L|RNF31_ENST00000559275.1_Missense_Mutation_p.S272L	p.S423L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1588	+			423			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1268C>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412775	0.62511	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.42131	0.98;0.98	5.87	4.99	0.66335	Zinc finger, RanBP2-type (2);	0.331771	0.28414	N	0.015430	T	0.45458	0.1343	L	0.52364	1.645	0.33845	D	0.631964	D;D;D	0.67145	0.969;0.992;0.996	B;P;P	0.51945	0.296;0.487;0.685	T	0.62525	-0.6836	10	0.72032	D	0.01	-2.5388	7.735	0.28808	0.1614:0.7565:0.0:0.0821	.	238;423;272	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	L	423;272	ENSP00000315112:S423L;ENSP00000372134:S272L	ENSP00000315112:S423L	S	+	2	0	RNF31	23689717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	1.489000	0.48450	0.655000	0.94253	TCG		0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		88	825	0	0	0	1	0	88	825				
TTN	7273	broad.mit.edu	37	2	179604158	179604158	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179604158A>G	ENST00000591111.1	-	46	13075	c.12851T>C	c.(12850-12852)aTc>aCc	p.I4284T	TTN_ENST00000359218.5_Missense_Mutation_p.I4363T|TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I4601T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	32497					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)			ATCCTCTTTGATTAAGCCACC	0.438																																						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.(13801-13803)aTc>aCc		titin							133.0	124.0	127.0					2																	179604158		1952	4150	6102	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604158A>G	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.12851T>C	2.37:g.179604158A>G	ENSP00000465570:p.Ile4284Thr					TTN_ENST00000359218.5_Missense_Mutation_p.I4363T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T|TTN_ENST00000591111.1_Missense_Mutation_p.I4284T|TTN-AS1_ENST00000590773.1_RNA	p.I4601T	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)		48	14026	-			4284			Ig-like 26.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.13802T>C		.	.	.	.	.	.	.	.	.	.	A	0.990	-0.694352	0.03303	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61274	0.16;0.13;0.12	5.65	-2.18	0.07037	.	.	.	.	.	T	0.24736	0.0600	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15292	-1.0442	9	0.87932	D	0	.	2.8061	0.05428	0.2567:0.2422:0.392:0.1091	.	4238;4363;4430	D3DPF9;E7EQE6;E7ET18	.;.;.	T	4238;4430;4363;4238	ENSP00000434586:I4238T;ENSP00000340554:I4430T;ENSP00000352154:I4363T	ENSP00000340554:I4430T	I	-	2	0	TTN	179312403	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.167000	0.09940	-0.296000	0.08947	0.533000	0.62120	ATC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	378	0	0	0	1	0	9	378				
ARHGAP24	83478	broad.mit.edu	37	4	86863294	86863294	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86863294T>C	ENST00000395184.1	+	5	933	c.467T>C	c.(466-468)gTg>gCg	p.V156A	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	156	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCGATGTTGGTGGAGCAGTGC	0.473																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(466-468)gTg>gCg		Rho GTPase activating protein 24							87.0	85.0	86.0					4																	86863294		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86863294T>C	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.467T>C	4.37:g.86863294T>C	ENSP00000378611:p.Val156Ala					ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A	p.V156A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	5	933	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	156			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.467T>C	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	T	33	5.205174	0.95033	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.52295	1.77;1.77;0.67;1.77;1.77;1.77;1.77	5.98	5.98	0.97165	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.996;0.999	D	0.84349	0.0531	10	0.72032	D	0.01	.	16.4731	0.84124	0.0:0.0:0.0:1.0	.	61;63;156;156	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	A	156;156;61;61;30;71;63	ENSP00000378611:V156A;ENSP00000423206:V156A;ENSP00000426105:V61A;ENSP00000378610:V61A;ENSP00000424256:V30A;ENSP00000425589:V71A;ENSP00000264343:V63A	ENSP00000264343:V63A	V	+	2	0	ARHGAP24	87082318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.970000	0.88000	2.293000	0.77203	0.528000	0.53228	GTG		0.473	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		48	218	0	0	0	1	0	48	218				
SMPD4	55627	broad.mit.edu	37	2	130925111	130925111	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130925111T>G	ENST00000409031.1	-	9	1977	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000453750.1_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	238					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGTGTCGCTTTAGGAGGCTA	0.557																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(829-831)Aag>Cag		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						94.0	82.0	86.0					2																	130925111		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130925111T>G	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.829A>C	2.37:g.130925111T>G	ENSP00000386531:p.Lys277Gln					SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000453750.1_Intron	p.K277Q	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			9	1977	-	Colorectal(110;0.1)		238					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.829A>C	CCDS42751.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	21.6|21.6|21.6	4.170904|4.170904|4.170904	0.78452|0.78452|0.78452	.|.|.	.|.|.	ENSG00000136699|ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000339679;ENST00000451542|ENST00000430682|ENST00000439886	.|.|.	.|.|.	.|.|.	3.87|3.87|3.87	3.87|3.87|3.87	0.44632|0.44632|0.44632	.|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|.	0.70859|0.70859|.	0.3272|0.3272|.	M|M|M	0.75447|0.75447|0.75447	2.3|2.3|2.3	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;P;D|.|.	0.63046|.|.	0.066;0.138;0.026;0.492;0.992|.|.	B;B;B;B;P|.|.	0.59171|.|.	0.044;0.073;0.038;0.245;0.853|.|.	T|T|.	0.71076|0.71076|.	-0.4697|-0.4697|.	9|6|.	0.48119|.|.	T|.|.	0.1|.|.	.|.|.	10.6337|10.6337|10.6337	0.45551|0.45551|0.45551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	204;164;238;238;277|.|.	E7ESA2;B4E0T5;Q9NXE4-2;Q9NXE4;B1PBA3|.|.	.;.;.;NSMA3_HUMAN;.|.|.	Q|T|Y	277;277;204;164;54|66|105	.|.|.	ENSP00000339721:K164Q|.|.	K|K|X	-|-|-	1|2|3	0|0|2	SMPD4|SMPD4|SMPD4	130641581|130641581|130641581	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	7.375000|7.375000|7.375000	0.79646|0.79646|0.79646	1.378000|1.378000|1.378000	0.46305|0.46305|0.46305	0.379000|0.379000|0.379000	0.24179|0.24179|0.24179	AAG|AAA|TAA		0.557	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		34	287	0	0	0	1	0	34	287				
UVRAG	7405	broad.mit.edu	37	11	75718637	75718637	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75718637A>G	ENST00000356136.3	+	10	1212	c.971A>G	c.(970-972)gAg>gGg	p.E324G	UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	324					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTACTCTCTGAGCTTTCCTAC	0.303																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(970-972)gAg>gGg		UV radiation resistance associated							115.0	112.0	113.0					11																	75718637		2199	4293	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75718637A>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.971A>G	11.37:g.75718637A>G	ENSP00000348455:p.Glu324Gly					UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR	p.E324G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			10	1212	+			324					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.971A>G	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794272	0.90453	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.37411	1.2;1.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58951	-0.7545	10	0.72032	D	0.01	-22.5946	15.1937	0.73067	1.0:0.0:0.0:0.0	.	324	Q9P2Y5	UVRAG_HUMAN	G	324;223	ENSP00000348455:E324G;ENSP00000436039:E223G	ENSP00000348455:E324G	E	+	2	0	UVRAG	75396285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.491000	0.90468	2.367000	0.80283	0.528000	0.53228	GAG		0.303	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		55	304	0	0	0	1	0	55	304				
CAST	831	broad.mit.edu	37	5	96107374	96107374	+	Missense_Mutation	SNP	A	A	C	rs200044442		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96107374A>C	ENST00000341926.3	+	29	2280	c.2118A>C	c.(2116-2118)aaA>aaC	p.K706N	ERAP1_ENST00000296754.3_Intron|CAST_ENST00000515663.1_Missense_Mutation_p.K429N|CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000509903.1_Missense_Mutation_p.K671N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000395813.1_Missense_Mutation_p.K789N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000359176.4_Missense_Mutation_p.K770N			P20810	ICAL_HUMAN	calpastatin	706					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCAAGCCAAAAGATGACTAAA	0.358																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(2365-2367)aaA>aaC		calpastatin							105.0	105.0	105.0					5																	96107374		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96107374A>C	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.2118A>C	5.37:g.96107374A>C	ENSP00000339914:p.Lys706Asn					ERAP1_ENST00000296754.3_Intron|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N|CAST_ENST00000509903.1_Missense_Mutation_p.K671N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000359176.4_Missense_Mutation_p.K770N|CAST_ENST00000341926.3_Missense_Mutation_p.K706N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000515663.1_Missense_Mutation_p.K429N	p.K789N			P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	31	2553	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	706					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.2367A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.49|13.49	2.252721|2.252721	0.39797|0.39797	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.24151|0.18502	1.93;1.89;1.89;1.88;1.87;1.93;1.9;1.94;1.93;1.94;1.95;1.99;1.94;1.94;2.0;1.9|2.21	5.31|5.31	1.59|1.59	0.23543|0.23543	.|.	0.251159|0.251159	0.34046|0.34046	N|N	0.004309|0.004309	T|T	0.22936|0.22936	0.0554|0.0554	M|M	0.65498|0.65498	2.005|2.005	0.49687|0.49687	D|D	0.999817|0.999817	D;D;P;B;P;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.993;0.829;0.437;0.829;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0|.	D;D;B;B;B;D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.991;0.977;0.36;0.186;0.36;0.996;0.997;0.997;0.996;0.997;0.997;0.998;0.998;0.99;0.998;0.998|.	T|T	0.02797|0.02797	-1.1109|-1.1109	10|8	0.72032|0.66056	D|D	0.01|0.02	-4.0288|-4.0288	2.8782|2.8782	0.05639|0.05639	0.6117:0.0:0.2025:0.1858|0.6117:0.0:0.2025:0.1858	.|.	634;752;429;433;428;691;671;684;665;706;754;748;770;767;789;693|.	E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	N|T	693;789;789;770;754;748;767;752;706;691;684;634;671;692;421;429|434	ENSP00000343421:K693N;ENSP00000425721:K789N;ENSP00000379158:K789N;ENSP00000352098:K770N;ENSP00000320319:K754N;ENSP00000379157:K748N;ENSP00000422176:K767N;ENSP00000422677:K752N;ENSP00000339914:K706N;ENSP00000421130:K691N;ENSP00000312523:K684N;ENSP00000425670:K634N;ENSP00000426946:K671N;ENSP00000423638:K692N;ENSP00000425787:K421N;ENSP00000422929:K429N|ENSP00000412374:K434T	ENSP00000312523:K684N|ENSP00000412374:K434T	K|K	+|+	3|2	2|0	CAST|CAST	96133130|96133130	0.824000|0.824000	0.29247|0.29247	0.484000|0.484000	0.27391|0.27391	0.215000|0.215000	0.24574|0.24574	1.298000|1.298000	0.33412|0.33412	0.406000|0.406000	0.25560|0.25560	0.397000|0.397000	0.26171|0.26171	AAA|AAG		0.358	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		74	304	0	0	0	1	0	74	304				
XYLT1	64131	broad.mit.edu	37	16	17211831	17211831	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17211831G>A	ENST00000261381.6	-	11	2313	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	743					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCAGTCAGTGCCGACCTGAA	0.547																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2227-2229)ggC>ggT		xylosyltransferase I							55.0	49.0	51.0					16																	17211831		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211831G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2229C>T	16.37:g.17211831G>A							p.G743G	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			11	2313	-			743					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2229C>T	CCDS10569.1																																																																																				0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		25	211	0	0	0	1	0	25	211				
LONRF3	79836	broad.mit.edu	37	X	118112410	118112410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118112410G>A	ENST00000371628.3	+	2	951	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H|LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	307							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGTAAGCTCCGCCCGATGGGT	0.498																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(919-921)cGc>cAc		LON peptidase N-terminal domain and ring finger 3							121.0	107.0	112.0					X																	118112410		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118112410G>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.920G>A	X.37:g.118112410G>A	ENSP00000360690:p.Arg307His					LONRF3_ENST00000371628.3_Missense_Mutation_p.R307H|LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H	p.R307H			Q496Y0	LONF3_HUMAN			2	1083	+			307					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.920G>A	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652612	0.67472	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.60171	0.21;0.21;0.21	5.46	4.41	0.53225	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.369547	0.26812	N	0.022377	T	0.52645	0.1747	L	0.29908	0.895	0.80722	D	1	D;D	0.55605	0.964;0.972	P;P	0.53954	0.666;0.738	T	0.54879	-0.8227	10	0.59425	D	0.04	-3.9659	6.1812	0.20472	0.2769:0.0:0.7231:0.0	.	307;307	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	H	307	ENSP00000360691:R307H;ENSP00000307732:R307H;ENSP00000360690:R307H	ENSP00000307732:R307H	R	+	2	0	LONRF3	117996438	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.323000	0.52014	2.301000	0.77427	0.600000	0.82982	CGC		0.498	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		63	263	0	0	0	1	0	63	263				
CDC42BPA	8476	broad.mit.edu	37	1	227216862	227216862	+	Missense_Mutation	SNP	G	G	A	rs267598394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227216862G>A	ENST00000366769.3	-	29	5114	c.3823C>T	c.(3823-3825)Cgt>Tgt	p.R1275C	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CGTACATGACGATTTCGTCCT	0.393																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(3823-3825)Cgt>Tgt		CDC42 binding protein kinase alpha (DMPK-like)							55.0	51.0	52.0					1																	227216862		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227216862G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3823C>T	1.37:g.227216862G>A	ENSP00000355731:p.Arg1275Cys					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C	p.R1275C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			29	5114	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1288			CNH.			Missense_Mutation	SNP	ENST00000366769.3	37	c.3823C>T	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809480|4.809480	0.90707|0.90707	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.05580|.	3.42;3.42;3.42;3.42;3.42;3.42;3.42|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.047547|.	0.85682|.	D|.	0.000000|.	T|T	0.78227|0.78227	0.4250|0.4250	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.72982|.	0.949;0.972;0.977;0.977;0.947;0.979;0.979;0.969|.	T|T	0.77988|0.77988	-0.2380|-0.2380	10|5	0.87932|.	D|.	0|.	.|.	19.3729|19.3729	0.94495|0.94495	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1255;1247;590;172;1194;1275;1310;477|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	C|L	1275;1194;1275;1310;1247;590;1255;1288|477;603;172;499	ENSP00000355731:R1275C;ENSP00000355729:R1194C;ENSP00000335341:R1275C;ENSP00000355728:R1310C;ENSP00000355726:R1247C;ENSP00000443275:R1255C;ENSP00000355727:R1288C|.	ENSP00000335341:R1275C|.	R|S	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225283485|225283485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.830000|7.830000	0.86741|0.86741	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	CGT|TCG		0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		40	216	0	0	0	1	0	40	216				
MKL2	57496	broad.mit.edu	37	16	14341058	14341058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14341058C>A	ENST00000341243.5	+	10	1908	c.1908C>A	c.(1906-1908)tgC>tgA	p.C636*	MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*|MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000571589.1_Nonsense_Mutation_p.C647*			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	636					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCTGACTGCTCCAGCTCCA	0.587																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1939-1941)tgC>tgA		MKL/myocardin-like 2							40.0	41.0	41.0					16																	14341058		2197	4300	6497	SO:0001587	stop_gained	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14341058C>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1908C>A	16.37:g.14341058C>A	ENSP00000345841:p.Cys636*					MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.C636*|MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*	p.C647*	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	2113	+			636					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Nonsense_Mutation	SNP	ENST00000341243.5	37	c.1941C>A		.	.	.	.	.	.	.	.	.	.	C	40	7.948015	0.98577	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.43	4.25	0.50352	.	0.202123	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3376	8.5521	0.33458	0.0:0.7987:0.0:0.2013	.	.	.	.	X	647;636	.	ENSP00000339086:C647X	C	+	3	2	MKL2	14248559	0.961000	0.32948	1.000000	0.80357	0.816000	0.46133	0.562000	0.23531	2.700000	0.92200	0.655000	0.94253	TGC		0.587	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		56	292	1	0	2.43277e-16	1	2.6724e-16	56	292				
ADAMTS18	170692	broad.mit.edu	37	16	77323306	77323306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77323306G>A	ENST00000282849.5	-	22	3823	c.3405C>T	c.(3403-3405)tgC>tgT	p.C1135C	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1135	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGTGACTGTGCACTGCAGCA	0.532																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3403-3405)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 18							61.0	65.0	63.0					16																	77323306		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77323306G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3405C>T	16.37:g.77323306G>A						RP11-538I12.3_ENST00000561672.1_RNA	p.C1135C	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			22	3823	-			1135			TSP type-1 5.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.3405C>T	CCDS10926.1																																																																																				0.532	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			123	366	0	0	0	1	0	123	366				
NAA40	79829	broad.mit.edu	37	11	63721914	63721914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63721914C>T	ENST00000377793.4	+	8	778	c.677C>T	c.(676-678)tCc>tTc	p.S226F	NAA40_ENST00000456907.2_Missense_Mutation_p.S186F|NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000542163.1_Missense_Mutation_p.S205F	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	226					lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AGCCATCACTCCCACGCGGGT	0.562																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(676-678)tCc>tTc		N(alpha)-acetyltransferase 40, NatD catalytic subunit							60.0	58.0	59.0					11																	63721914		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63721914C>T	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.677C>T	11.37:g.63721914C>T	ENSP00000367024:p.Ser226Phe					NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000542163.1_Missense_Mutation_p.S205F|NAA40_ENST00000456907.2_Missense_Mutation_p.S186F	p.S226F	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			8	778	+			226					B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.677C>T	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401041	0.62288	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	4.68	4.68	0.58851	.	0.421413	0.28555	N	0.014933	T	0.41696	0.1170	N	0.14661	0.345	0.50813	D	0.999892	B;B	0.32693	0.38;0.38	B;B	0.28011	0.085;0.085	T	0.50039	-0.8874	9	0.72032	D	0.01	-13.045	16.5473	0.84450	0.0:1.0:0.0:0.0	.	186;226	B4DU10;Q86UY6	.;NAA40_HUMAN	F	226;186;113;205	.	ENSP00000367024:S226F	S	+	2	0	NAA40	63478490	1.000000	0.71417	0.991000	0.47740	0.610000	0.37248	3.430000	0.52807	2.429000	0.82318	0.555000	0.69702	TCC		0.562	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		57	233	0	0	0	1	0	57	233				
CNTNAP5	129684	broad.mit.edu	37	2	125530402	125530402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530402G>A	ENST00000431078.1	+	17	2921	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	853	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTTGCCATCGATGTTGGGAA	0.502																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2557-2559)Gat>Aat		contactin associated protein-like 5							171.0	158.0	162.0					2																	125530402		1929	4132	6061	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530402G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2557G>A	2.37:g.125530402G>A	ENSP00000399013:p.Asp853Asn						p.D853N	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2921	+			853			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2557G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.077372	0.76415	.	.	ENSG00000155052	ENST00000431078	T	0.79554	-1.28	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48767	D	0.000169	D	0.86606	0.5973	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85406	0.1134	10	0.41790	T	0.15	.	18.7016	0.91621	0.0:0.0:1.0:0.0	.	853	Q8WYK1	CNTP5_HUMAN	N	853	ENSP00000399013:D853N	ENSP00000399013:D853N	D	+	1	0	CNTNAP5	125246872	1.000000	0.71417	0.990000	0.47175	0.126000	0.20510	9.697000	0.98697	2.664000	0.90586	0.645000	0.84053	GAT		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			89	269	0	0	0	1	0	89	269				
VPS13C	54832	broad.mit.edu	37	15	62264895	62264895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62264895C>T	ENST00000261517.5	-	27	2759	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTAAGTTCTGATCCTTTC	0.333																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2686-2688)Gaa>Aaa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							136.0	134.0	135.0					15																	62264895		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62264895C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2686G>A	15.37:g.62264895C>T	ENSP00000261517:p.Glu896Lys					VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K	p.E896K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			27	2759	-			896						Missense_Mutation	SNP	ENST00000261517.5	37	c.2686G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599160	0.28534	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16597	2.33;2.33;2.33	5.29	5.29	0.74685	.	0.357258	0.26796	N	0.022455	T	0.18676	0.0448	L	0.50333	1.59	0.43394	D	0.99551	B;B;B;B	0.30973	0.302;0.152;0.185;0.004	B;B;B;B	0.23852	0.036;0.036;0.049;0.007	T	0.02766	-1.1113	10	0.28530	T	0.3	.	19.3229	0.94250	0.0:1.0:0.0:0.0	.	853;896;853;896	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	853;896;896;896	ENSP00000249837:E853K;ENSP00000261517:E896K;ENSP00000379233:E896K	ENSP00000249837:E853K	E	-	1	0	VPS13C	60052187	0.889000	0.30405	0.955000	0.39395	0.506000	0.33950	3.224000	0.51238	2.642000	0.89623	0.591000	0.81541	GAA		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		76	375	0	0	0	1	0	76	375				
COL12A1	1303	broad.mit.edu	37	6	75844520	75844520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844520C>A	ENST00000322507.8	-	32	5755	c.5446G>T	c.(5446-5448)Gac>Tac	p.D1816Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1816	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAAGGAGTGTCTGGCTTCAGT	0.498																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5446-5448)Gac>Tac		collagen, type XII, alpha 1							142.0	143.0	143.0					6																	75844520		1972	4165	6137	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75844520C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5446G>T	6.37:g.75844520C>A	ENSP00000325146:p.Asp1816Tyr					COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y	p.D1816Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			32	5755	-			1816			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5446G>T	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.933242|3.933242	0.73442|0.73442	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.87|5.87	5.0|5.0	0.66597|0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.61862|0.61862	0.2381|0.2381	M|M	0.63208|0.63208	1.945|1.945	0.46823|0.46823	D|D	0.999218|0.999218	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.983;0.994|.	T|T	0.63216|0.63216	-0.6687|-0.6687	10|5	0.72032|.	D|.	0.01|.	.|.	15.0639|15.0639	0.71977|0.71977	0.0:0.9321:0.0:0.0679|0.0:0.9321:0.0:0.0679	.|.	652;1816|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	Y|I	1816;1816;652;1816;1816|550	ENSP00000325146:D1816Y;ENSP00000305147:D652Y;ENSP00000412864:D1816Y;ENSP00000421216:D1816Y|.	ENSP00000325146:D1816Y|.	D|R	-|-	1|2	0|0	COL12A1|COL12A1	75901240|75901240	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.764000|0.764000	0.43329|0.43329	5.594000|5.594000	0.67557|0.67557	1.493000|1.493000	0.48517|0.48517	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		68	275	1	0	1.34568e-36	1	1.61182e-36	68	275				
D2HGDH	728294	broad.mit.edu	37	2	242689694	242689694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242689694G>A	ENST00000321264.4	+	7	1191	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	D2HGDH_ENST00000403782.1_Missense_Mutation_p.A194T|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	328					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCTCCACCTGGCCAGCCCGGT	0.632																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(982-984)Gcc>Acc		D-2-hydroxyglutarate dehydrogenase							67.0	65.0	66.0					2																	242689694		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242689694G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.982G>A	2.37:g.242689694G>A	ENSP00000315351:p.Ala328Thr					D2HGDH_ENST00000403782.1_Missense_Mutation_p.A194T|D2HGDH_ENST00000486953.1_3'UTR	p.A328T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	7	1191	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	328					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.982G>A	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.019|6.019	0.371815|0.371815	0.11409|0.11409	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000321264;ENST00000403782|ENST00000432449	T;T|.	0.78481|.	-1.18;-1.18|.	4.63|4.63	-1.65|-1.65	0.08291|0.08291	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	0.870325|.	0.10087|.	N|.	0.717627|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.01168|0.01168	-0.975|-0.975	0.33050|0.33050	D|D	0.532612|0.532612	B|.	0.02656|.	0.0|.	B|.	0.11329|.	0.006|.	T|T	0.35450|0.35450	-0.9788|-0.9788	10|5	0.16420|.	T|.	0.52|.	-1.4511|-1.4511	4.8409|4.8409	0.13489|0.13489	0.4608:0.0:0.1949:0.3443|0.4608:0.0:0.1949:0.3443	.|.	328|.	Q8N465|.	D2HDH_HUMAN|.	T|D	328;194|81	ENSP00000315351:A328T;ENSP00000384723:A194T|.	ENSP00000315351:A328T|.	A|G	+|+	1|2	0|0	D2HGDH|D2HGDH	242338367|242338367	0.000000|0.000000	0.05858|0.05858	0.810000|0.810000	0.32431|0.32431	0.501000|0.501000	0.33797|0.33797	-1.055000|-1.055000	0.03493|0.03493	-0.177000|-0.177000	0.10690|0.10690	0.491000|0.491000	0.48974|0.48974	GCC|GGC		0.632	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		9	428	0	0	0	1	0	9	428				
DCAF4	26094	broad.mit.edu	37	14	73412676	73412676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73412676C>A	ENST00000358377.2	+	7	839	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M|DCAF4_ENST00000553457.1_Missense_Mutation_p.L107M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	207					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCTGCAAAGTCTGAAGACCCC	0.517																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(319-321)Ctg>Atg		DDB1 and CUL4 associated factor 4							191.0	175.0	181.0					14																	73412676		2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73412676C>A	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.619C>A	14.37:g.73412676C>A	ENSP00000351147:p.Leu207Met					DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M|DCAF4_ENST00000358377.2_Missense_Mutation_p.L207M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M	p.L107M			Q8WV16	DCAF4_HUMAN			6	609	+			207					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.319C>A	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011983	0.35511	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.73575	0.28;-0.44;-0.76;0.31;-0.13;4.76	6.04	4.98	0.66077	.	0.233339	0.44483	D	0.000451	D	0.83308	0.5226	M	0.63843	1.955	0.24821	N	0.992582	D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.78314	0.909;0.984;0.991;0.991;0.956;0.976	T	0.74884	-0.3512	10	0.41790	T	0.15	.	15.0067	0.71519	0.0:0.8821:0.0:0.1179	.	146;185;207;207;146;207	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	M	207;146;107;146;207;107	ENSP00000351147:L207M;ENSP00000345176:L146M;ENSP00000377781:L107M;ENSP00000426178:L146M;ENSP00000452131:L207M;ENSP00000451186:L107M	ENSP00000345176:L146M	L	+	1	2	DCAF4	72482429	0.340000	0.24792	0.621000	0.29145	0.112000	0.19704	0.772000	0.26647	2.873000	0.98535	0.561000	0.74099	CTG		0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		194	844	1	0	5.41999e-79	1	6.92577e-79	194	844				
POT1	25913	broad.mit.edu	37	7	124465393	124465393	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124465393G>A	ENST00000357628.3	-	18	2303	c.1705C>T	c.(1705-1707)Cca>Tca	p.P569S	POT1_ENST00000393329.1_Missense_Mutation_p.P438S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	569					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGATGCTGGAATCTGGAAG	0.294																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1705-1707)Cca>Tca		protection of telomeres 1							56.0	56.0	56.0					7																	124465393		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124465393G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1705C>T	7.37:g.124465393G>A	ENSP00000350249:p.Pro569Ser					POT1_ENST00000393329.1_Missense_Mutation_p.P438S	p.P569S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			18	2303	-			569					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.1705C>T	CCDS5793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.015367|2.015367	0.35511|0.35511	.|.	.|.	ENSG00000128513|ENSG00000128513	ENST00000357628;ENST00000393329|ENST00000436534	T;T|.	0.46063|.	0.97;0.88|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.207319|.	0.44902|.	D|.	0.000417|.	T|T	0.60130|0.60130	0.2245|0.2245	L|L	0.52573|0.52573	1.65|1.65	0.39108|0.39108	D|D	0.961418|0.961418	D|.	0.53312|.	0.959|.	P|.	0.46076|.	0.503|.	T|T	0.60556|0.60556	-0.7240|-0.7240	10|5	0.21540|.	T|.	0.41|.	-19.2466|-19.2466	10.2755|10.2755	0.43507|0.43507	0.0894:0.0:0.9106:0.0|0.0894:0.0:0.9106:0.0	.|.	569|.	Q9NUX5|.	POTE1_HUMAN|.	S|F	569;438|67	ENSP00000350249:P569S;ENSP00000377002:P438S|.	ENSP00000350249:P569S|.	P|S	-|-	1|2	0|0	POT1|POT1	124252629|124252629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	4.430000|4.430000	0.59907|0.59907	2.569000|2.569000	0.86673|0.86673	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.294	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			23	143	0	0	0	1	0	23	143				
ZNF546	339327	broad.mit.edu	37	19	40521033	40521033	+	Missense_Mutation	SNP	G	G	A	rs373735181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40521033G>A	ENST00000347077.4	+	7	2072	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R619Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGCCTTTCGATTTCAAACA	0.363																																						ENST00000347077.4																			1	Substitution - Missense(1)	p.R619Q(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1855-1857)cGa>cAa		zinc finger protein 546		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	48.0	47.0		1856	1.8	0.1	19		47	0,8600		0,0,4300	no	missense	ZNF546	NM_178544.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	619/837	40521033	1,13005	2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521033G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1856G>A	19.37:g.40521033G>A	ENSP00000339823:p.Arg619Gln					ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q|ZNF546_ENST00000596894.1_Intron	p.R619Q	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2072	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		619					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1856G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223971	0.39300	2.27E-4	0.0	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.52754	0.65	2.91	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43478	0.1249	N	0.26130	0.795	0.09310	N	1	D	0.76494	0.999	P	0.58331	0.837	T	0.17868	-1.0355	9	0.37606	T	0.19	.	3.904	0.09174	0.1318:0.0:0.6354:0.2327	.	619	Q86UE3	ZN546_HUMAN	Q	619;228	ENSP00000339823:R619Q	ENSP00000339823:R619Q	R	+	2	0	ZNF546	45212873	0.000000	0.05858	0.081000	0.20488	0.968000	0.65278	-2.640000	0.00865	0.744000	0.32741	0.591000	0.81541	CGA		0.363	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		45	168	0	0	0	1	0	45	168				
ZNF470	388566	broad.mit.edu	37	19	57088924	57088924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088924C>T	ENST00000330619.8	+	6	1813	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTGGGAAAGCTTTCAGGCAG	0.423																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1126-1128)gCt>gTt		zinc finger protein 470							97.0	90.0	93.0					19																	57088924		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088924C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1127C>T	19.37:g.57088924C>T	ENSP00000333223:p.Ala376Val					ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V|ZNF470_ENST00000601902.1_Intron	p.A376V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1813	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	376					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1127C>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	-	7.775	0.708314	0.15239	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.19105	2.17;2.17	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12135	0.0295	N	0.10733	0.035	0.09310	N	1	P	0.43885	0.82	B	0.44224	0.444	T	0.05920	-1.0856	9	0.41790	T	0.15	.	5.8632	0.18760	0.0:0.6971:0.1981:0.1047	.	376	Q6ECI4	ZN470_HUMAN	V	376	ENSP00000375590:A376V;ENSP00000333223:A376V	ENSP00000333223:A376V	A	+	2	0	ZNF470	61780736	0.000000	0.05858	0.913000	0.36048	0.044000	0.14063	0.405000	0.21015	2.177000	0.69029	0.603000	0.83216	GCT		0.423	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		26	313	0	0	0	1	0	26	313				
INTS10	55174	broad.mit.edu	37	8	19675132	19675132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19675132G>A	ENST00000397977.3	+	1	482	c.84G>A	c.(82-84)tgG>tgA	p.W28*	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	28					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CCAAGGCGTGGCTGATCACGG	0.682																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(82-84)tgG>tgA		integrator complex subunit 10							16.0	23.0	20.0					8																	19675132		2060	4210	6270	SO:0001587	stop_gained	55174				snRNA processing	integrator complex	protein binding	g.chr8:19675132G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.84G>A	8.37:g.19675132G>A	ENSP00000381064:p.Trp28*					INTS10_ENST00000521758.1_3'UTR	p.W28*	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	1	482	+			28					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Nonsense_Mutation	SNP	ENST00000397977.3	37	c.84G>A	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	42	9.770182	0.99259	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2863	17.7262	0.88366	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000381064:W28X	W	+	3	0	INTS10	19719412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.541000	0.90644	2.598000	0.87819	0.563000	0.77884	TGG		0.682	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		6	64	0	0	0	1	0	6	64				
MAGEL2	54551	broad.mit.edu	37	15	23890438	23890438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23890438G>A	ENST00000532292.1	-	1	737	c.643C>T	c.(643-645)Cca>Tca	p.P215S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	98					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGCATATGGCAGTGACTTT	0.562																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(643-645)Cca>Tca		MAGE-like 2							64.0	68.0	67.0					15																	23890438		1988	4181	6169	SO:0001583	missense	54551							g.chr15:23890438G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.643C>T	15.37:g.23890438G>A	ENSP00000433433:p.Pro215Ser						p.P215S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	737	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.643C>T																																																																																					0.562	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		72	303	0	0	0	1	0	72	303				
AKAP9	10142	broad.mit.edu	37	7	91660882	91660882	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91660882A>G	ENST00000359028.2	+	17	4563	c.4338A>G	c.(4336-4338)aaA>aaG	p.K1446K	AKAP9_ENST00000358100.2_Silent_p.K1446K|AKAP9_ENST00000356239.3_Silent_p.K1434K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1446					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K1434K(1)|p.K1446K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCTTGAAAAACAATACCAAG	0.294			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)	p.K1434K(1)|p.K1446K(1)	kidney(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4336-4338)aaA>aaG		A kinase (PRKA) anchor protein 9							128.0	135.0	132.0					7																	91660882		2202	4294	6496	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91660882A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4338A>G	7.37:g.91660882A>G						AKAP9_ENST00000356239.3_Silent_p.K1434K|AKAP9_ENST00000358100.2_Silent_p.K1446K	p.K1446K			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		17	4563	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1446					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.4338A>G																																																																																					0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		57	238	0	0	0	1	0	57	238				
ASIC3	9311	broad.mit.edu	37	7	150746232	150746232	+	Missense_Mutation	SNP	C	C	T	rs140048490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150746232C>T	ENST00000349064.5	+	1	458	c.260C>T	c.(259-261)cCg>cTg	p.P87L	ASIC3_ENST00000297512.8_Missense_Mutation_p.P87L|ASIC3_ENST00000357922.4_Missense_Mutation_p.P87L	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	87					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.P87Q(4)									CTCATCTTCCCGGCTGTCACC	0.647																																						ENST00000357922.4																			4	Substitution - Missense(4)	p.P87Q(4)	large_intestine(2)|lung(2)								c.(259-261)cCg>cTg		acid-sensing (proton-gated) ion channel 3		C	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	116.0	93.0	101.0		260,260,260	5.1	1.0	7	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	87/532,87/550,87/544	150746232	1,13005	2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746232C>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.260C>T	7.37:g.150746232C>T	ENSP00000344838:p.Pro87Leu					ASIC3_ENST00000349064.5_Missense_Mutation_p.P87L|ASIC3_ENST00000297512.8_Missense_Mutation_p.P87L	p.P87L	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	854	+			87					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.260C>T	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737576	0.69304	2.27E-4	0.0	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	D;D;D	0.87256	-2.23;-2.23;-2.23	5.11	5.11	0.69529	.	0.000000	0.33813	U	0.004536	D	0.94781	0.8315	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.95694	0.8743	10	0.87932	D	0	-16.9416	16.3968	0.83610	0.0:1.0:0.0:0.0	.	87;87;87	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	L	87	ENSP00000350600:P87L;ENSP00000344838:P87L;ENSP00000297512:P87L	ENSP00000297512:P87L	P	+	2	0	ACCN3	150377165	1.000000	0.71417	0.964000	0.40570	0.022000	0.10575	6.044000	0.71012	2.549000	0.85964	0.561000	0.74099	CCG		0.647	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		92	446	0	0	0	1	0	92	446				
ASCC3	10973	broad.mit.edu	37	6	101075801	101075801	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101075801T>C	ENST00000369162.2	-	28	4782	c.4438A>G	c.(4438-4440)Aca>Gca	p.T1480A		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1480	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGCTTTTCTGTGTGTGATGAG	0.373																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4438-4440)Aca>Gca		activating signal cointegrator 1 complex subunit 3							113.0	109.0	110.0					6																	101075801		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075801T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4438A>G	6.37:g.101075801T>C	ENSP00000358159:p.Thr1480Ala						p.T1480A	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	28	4782	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1480			Helicase ATP-binding 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4438A>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600735	0.87055	.	.	ENSG00000112249	ENST00000369162	T	0.58060	0.36	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59397	-0.7462	10	0.33940	T	0.23	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1480	Q8N3C0	HELC1_HUMAN	A	1480	ENSP00000358159:T1480A	ENSP00000358159:T1480A	T	-	1	0	ASCC3	101182522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ACA		0.373	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		52	242	0	0	0	1	0	52	242				
ZNF627	199692	broad.mit.edu	37	19	11727652	11727652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727652G>T	ENST00000361113.5	+	4	542	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTTGGCATGGGTCCTTCATC	0.433																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(334-336)Ggt>Tgt		zinc finger protein 627							158.0	159.0	159.0					19																	11727652		2142	4269	6411	SO:0001583	missense	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11727652G>T	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.334G>T	19.37:g.11727652G>T	ENSP00000354414:p.Gly112Cys					ZNF627_ENST00000588174.1_3'UTR	p.G112C	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN			4	542	+			112					O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	c.334G>T	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	8.558	0.877179	0.17395	.	.	ENSG00000198551	ENST00000361113	T	0.14893	2.47	1.36	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.07954	0.0199	N	0.17594	0.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32719	-0.9896	9	0.36615	T	0.2	.	2.9306	0.05799	0.0:0.3208:0.2676:0.4116	.	112	Q7L945	ZN627_HUMAN	C	112	ENSP00000354414:G112C	ENSP00000354414:G112C	G	+	1	0	ZNF627	11588652	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.992000	0.00162	-0.782000	0.04541	0.313000	0.20887	GGT		0.433	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		90	568	1	0	2.16659e-41	1	2.63151e-41	90	568				
FTH1P3	2498	broad.mit.edu	37	5	17353957	17353957	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17353957G>T	ENST00000511821.1	+	0	0				FTH1P10_ENST00000401830.3_RNA																							GTCACCCCACGGCTATGGGGA	0.478																																						ENST00000401830.3																			0																																																			0							g.chr5:17353957G>T																													5.37:g.17353957G>T								NR_002201.1						0	776	-									RNA	SNP	ENST00000511821.1	37																																																																																						0.478	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			20	44	1	0	2.32416e-17	1	2.56562e-17	20	44				
FZD6	8323	broad.mit.edu	37	8	104343602	104343602	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343602C>A	ENST00000358755.4	+	7	2303	c.1986C>A	c.(1984-1986)ggC>ggA	p.G662G	FZD6_ENST00000540287.1_Silent_p.G357G|FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000522566.1_Silent_p.G662G	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	662					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CTGACACTGGCCTGGCACAGA	0.428																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1984-1986)ggC>ggA		frizzled family receptor 6							177.0	175.0	176.0					8																	104343602		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104343602C>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1986C>A	8.37:g.104343602C>A						FZD6_ENST00000540287.1_Silent_p.G357G|FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000522566.1_Silent_p.G662G	p.G662G	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		7	2303	+			662					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.1986C>A	CCDS6298.1																																																																																				0.428	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		21	643	1	0	2.39556e-15	1	2.61601e-15	21	643				
ACSL1	2180	broad.mit.edu	37	4	185678324	185678324	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185678324A>C	ENST00000515030.1	-	21	2377	c.2052T>G	c.(2050-2052)taT>taG	p.Y684*	ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	684					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCGACCTGAAATAGTTCCGCA	0.458																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(2050-2052)taT>taG		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						144.0	144.0	144.0					4																	185678324		2203	4300	6503	SO:0001587	stop_gained	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185678324A>C	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.2052T>G	4.37:g.185678324A>C	ENSP00000422607:p.Tyr684*					ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*	p.Y684*			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	21	2377	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	684					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	37	c.2052T>G	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	A	37	6.532420	0.97641	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	6.06	-0.957	0.10350	.	0.448180	0.28600	N	0.014769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0165	7.8838	0.29637	0.4554:0.1186:0.426:0.0	.	.	.	.	X	513;684;280;684;650;513;684;684	.	ENSP00000281455:Y684X	Y	-	3	2	ACSL1	185915318	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	0.666000	0.25097	0.171000	0.19730	0.533000	0.62120	TAT		0.458	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		27	629	0	0	0	1	0	27	629				
HNRNPUL2	221092	broad.mit.edu	37	11	62491420	62491420	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62491420C>A	ENST00000301785.5	-	3	909	c.717G>T	c.(715-717)gaG>gaT	p.E239D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E239D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	239	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATCCTCCTCCTCATCTTTTG	0.393																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(715-717)gaG>gaT		heterogeneous nuclear ribonucleoprotein U-like 2							193.0	184.0	187.0					11																	62491420		1956	4148	6104	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62491420C>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.717G>T	11.37:g.62491420C>A	ENSP00000301785:p.Glu239Asp					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E239D	p.E239D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			3	909	-			239			B30.2/SPRY.|Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.717G>T	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621621	0.28889	.	.	ENSG00000214753	ENST00000301785	T	0.73047	-0.71	5.3	2.25	0.28309	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.218960	0.41396	D	0.000883	T	0.43809	0.1264	N	0.13198	0.31	0.30227	N	0.796265	P	0.38504	0.634	B	0.35510	0.204	T	0.37979	-0.9682	10	0.18276	T	0.48	-18.6698	4.4206	0.11479	0.0:0.5427:0.1645:0.2928	.	239	Q1KMD3	HNRL2_HUMAN	D	239	ENSP00000301785:E239D	ENSP00000301785:E239D	E	-	3	2	HNRNPUL2	62247996	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.207000	0.17395	0.743000	0.32719	0.655000	0.94253	GAG		0.393	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		25	626	1	0	1.74197e-06	1	1.79736e-06	25	626				
ADCY8	114	broad.mit.edu	37	8	131795943	131795943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131795943G>A	ENST00000286355.5	-	17	5354	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1088					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACCAATCCGGAGTTCAAAA	0.512										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3262-3264)Cgg>Tgg		adenylate cyclase 8 (brain)							120.0	112.0	115.0					8																	131795943		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131795943G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3262C>T	8.37:g.131795943G>A	ENSP00000286355:p.Arg1088Trp	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	p.R1088W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		17	5354	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1088						Missense_Mutation	SNP	ENST00000286355.5	37	c.3262C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595263	0.86953	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.88277	-2.36;-2.36	5.4	5.4	0.78164	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	H	0.98466	4.24	0.40008	D	0.975253	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98911	1.0780	10	0.87932	D	0	.	18.539	0.91020	0.0:0.0:1.0:0.0	.	957;1088	E7EVL1;P40145	.;ADCY8_HUMAN	W	1088;957	ENSP00000286355:R1088W;ENSP00000367161:R957W	ENSP00000286355:R1088W	R	-	1	2	ADCY8	131865125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.911000	0.56378	2.681000	0.91329	0.655000	0.94253	CGG		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			40	202	0	0	0	1	0	40	202				
PCF11	51585	broad.mit.edu	37	11	82880369	82880369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82880369C>T	ENST00000298281.4	+	8	3444	c.2992C>T	c.(2992-2994)Cct>Tct	p.P998S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	998	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTTTGAAGGCCCTTTAGTCCA	0.512																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2992-2994)Cct>Tct		PCF11 cleavage and polyadenylation factor subunit							93.0	93.0	93.0					11																	82880369		1919	4126	6045	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880369C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2992C>T	11.37:g.82880369C>T	ENSP00000298281:p.Pro998Ser						p.P998S	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			8	3444	+			998			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2992C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856840	0.32791	.	.	ENSG00000165494	ENST00000298281	T	0.34667	1.35	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000015	T	0.50650	0.1628	L	0.50333	1.59	0.50632	D	0.999881	D	0.62365	0.991	P	0.55667	0.781	T	0.26538	-1.0100	9	.	.	.	-10.5135	20.4008	0.98991	0.0:1.0:0.0:0.0	.	998	O94913	PCF11_HUMAN	S	998	ENSP00000298281:P998S	.	P	+	1	0	PCF11	82558017	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.732000	0.62029	2.826000	0.97356	0.655000	0.94253	CCT		0.512	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		47	190	0	0	0	1	0	47	190				
BBS2	583	broad.mit.edu	37	16	56519606	56519606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56519606C>T	ENST00000245157.5	-	16	2375	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K	BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	652					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TAGCAAGTCTCTATTAAGGTC	0.368									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1954-1956)aGa>aAa		Bardet-Biedl syndrome 2							141.0	134.0	137.0					16																	56519606		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56519606C>T	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1955G>A	16.37:g.56519606C>T	ENSP00000245157:p.Arg652Lys					BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	p.R652K	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			16	2375	-			652					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1955G>A	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647083	0.29246	.	.	ENSG00000125124	ENST00000245157	D	0.90444	-2.67	5.64	3.41	0.39046	.	0.131453	0.64402	N	0.000003	D	0.82563	0.5064	L	0.33245	0.995	0.34455	D	0.701105	B	0.09022	0.002	B	0.13407	0.009	T	0.75164	-0.3414	10	0.22109	T	0.4	-9.6526	7.1628	0.25672	0.0:0.4023:0.0:0.5977	.	652	Q9BXC9	BBS2_HUMAN	K	652	ENSP00000245157:R652K	ENSP00000245157:R652K	R	-	2	0	BBS2	55077107	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.301000	0.43628	0.433000	0.26313	-0.482000	0.04802	AGA		0.368	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		113	410	0	0	0	1	0	113	410				
KIRREL2	84063	broad.mit.edu	37	19	36360568	36360568	+	IGR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36360568G>T	ENST00000360202.5	+	0	2942				APLP1_ENST00000537454.2_Splice_Site|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.Q43H|APLP1_ENST00000221891.4_Splice_Site	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTCCATCCAGGCCCCGGGGT	0.692																																						ENST00000586861.1																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(127-129)caG>caT		amyloid beta (A4) precursor-like protein 1							15.0	19.0	18.0					19																	36360568		2201	4297	6498	SO:0001628	intergenic_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36360568G>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6			19.37:g.36360568G>T						APLP1_ENST00000537454.2_Splice_Site|APLP1_ENST00000221891.4_Splice_Site	p.Q43H			P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	194	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		49					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.129G>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422922	0.43020	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.778	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APLP1	41052408	1.000000	0.71417	0.920000	0.36463	0.463000	0.32649	4.287000	0.59001	2.309000	0.77851	0.561000	0.74099	.		0.692	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		53	140	1	0	2.27459e-33	1	2.69573e-33	53	140				
FOXB2	442425	broad.mit.edu	37	9	79634658	79634658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634658G>A	ENST00000376708.1	+	1	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCAGCACTCGGCCGAGAAGAT	0.627																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(88-90)Gcc>Acc		forkhead box B2							59.0	53.0	55.0					9																	79634658		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634658G>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.88G>A	9.37:g.79634658G>A	ENSP00000365898:p.Ala30Thr						p.A30T	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	88	+			30						Missense_Mutation	SNP	ENST00000376708.1	37	c.88G>A	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629544	0.46944	.	.	ENSG00000204612	ENST00000376708	D	0.95447	-3.71	4.41	4.41	0.53225	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.367704	0.27302	N	0.019985	D	0.91838	0.7417	N	0.11818	0.18	0.37583	D	0.919881	P	0.52170	0.951	P	0.49999	0.628	D	0.93456	0.6806	10	0.52906	T	0.07	.	12.8307	0.57744	0.0:0.1646:0.8354:0.0	.	30	Q5VYV0	FOXB2_HUMAN	T	30	ENSP00000365898:A30T	ENSP00000365898:A30T	A	+	1	0	FOXB2	78824478	0.000000	0.05858	0.990000	0.47175	0.780000	0.44128	-0.169000	0.09911	2.177000	0.69029	0.561000	0.74099	GCC		0.627	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		30	145	0	0	0	1	0	30	145				
OSBPL3	26031	broad.mit.edu	37	7	24874243	24874243	+	Silent	SNP	G	G	A	rs371031134		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24874243G>A	ENST00000313367.2	-	15	2059	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000409069.1_Silent_p.I469I|OSBPL3_ENST00000352860.1_Silent_p.I505I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	536					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGTCCTTCCCGATGTTGTTCC	0.622																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1606-1608)atC>atT		oxysterol binding protein-like 3		G	,,,	1,4405	2.1+/-5.4	0,1,2202	115.0	96.0	102.0		1608,1515,1500,1407	-11.7	0.0	7		102	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSBPL3	NM_015550.2,NM_145320.1,NM_145321.1,NM_145322.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	536/888,505/857,500/852,469/821	24874243	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24874243G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1608C>T	7.37:g.24874243G>A						OSBPL3_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000352860.1_Silent_p.I505I|OSBPL3_ENST00000409069.1_Silent_p.I469I	p.I536I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			15	2059	-			536					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.1608C>T	CCDS5390.1																																																																																				0.622	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			15	503	0	0	0	1	0	15	503				
SRRM1	10250	broad.mit.edu	37	1	24997983	24997983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24997983C>T	ENST00000323848.9	+	16	2822	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V|SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	836	Ala-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		aagGAAAAGgctgtggctgca	0.498																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2506-2508)gCt>gTt		serine/arginine repetitive matrix 1							36.0	35.0	35.0					1																	24997983		2203	4295	6498	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24997983C>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2507C>T	1.37:g.24997983C>T	ENSP00000326261:p.Ala836Val					SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V|SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V|SRRM1_ENST00000479034.1_3'UTR	p.A836V	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	16	2822	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	836			Ala-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2507C>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138058	0.77775	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.47528	0.84;0.85;0.85	5.81	5.81	0.92471	.	0.200219	0.34959	N	0.003541	T	0.32526	0.0832	N	0.12746	0.255	0.80722	D	1	P;B	0.36909	0.573;0.209	B;B	0.32090	0.14;0.066	T	0.23190	-1.0195	10	0.52906	T	0.07	-2.9051	18.6677	0.91497	0.0:1.0:0.0:0.0	.	848;836	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	V	836;848;845	ENSP00000326261:A836V;ENSP00000391430:A848V;ENSP00000363510:A845V	ENSP00000326261:A836V	A	+	2	0	SRRM1	24870570	0.998000	0.40836	0.989000	0.46669	0.983000	0.72400	4.973000	0.63763	2.741000	0.93983	0.650000	0.86243	GCT		0.498	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		22	140	0	0	0	1	0	22	140				
RAD54L	8438	broad.mit.edu	37	1	46726956	46726956	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46726956G>T	ENST00000371975.4	+	8	1464	c.790G>T	c.(790-792)Gcc>Tcc	p.A264S	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.A264S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	264	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCAGCGTGGAGCCAGGGTGTC	0.408								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(790-792)Gcc>Tcc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							120.0	106.0	111.0					1																	46726956		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726956G>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.790G>T	1.37:g.46726956G>T	ENSP00000361043:p.Ala264Ser					RAD54L_ENST00000442598.1_Missense_Mutation_p.A264S	p.A264S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	8	1464	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	264			Helicase ATP-binding.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.790G>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126924	0.37533	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.92858	-3.12;-3.12	5.71	4.74	0.60224	DEAD-like helicase (2);SNF2-related (1);	0.384294	0.28398	N	0.015500	T	0.79112	0.4391	N	0.02842	-0.48	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.002;0.007	T	0.73228	-0.4049	10	0.20046	T	0.44	-9.4598	10.6479	0.45632	0.0754:0.2231:0.7015:0.0	.	84;264	G3V1N0;Q92698	.;RAD54_HUMAN	S	264;264;84	ENSP00000396113:A264S;ENSP00000361043:A264S	ENSP00000361043:A264S	A	+	1	0	RAD54L	46499543	0.804000	0.28969	1.000000	0.80357	0.756000	0.42949	0.045000	0.14013	2.873000	0.98535	0.561000	0.74099	GCC		0.408	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		6	281	1	0	1.26484e-09	1	1.33308e-09	6	281				
C1RL	51279	broad.mit.edu	37	12	7249062	7249062	+	Silent	SNP	G	G	A	rs371455511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7249062G>A	ENST00000266542.4	-	6	1481	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	463	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATACCCTTCGCCACACCCTA	0.562																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1387-1389)ggC>ggT		complement component 1, r subcomponent-like		G		0,4406		0,0,2203	132.0	115.0	121.0		1389	4.1	1.0	12		121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C1RL	NM_016546.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		463/488	7249062	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249062G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1389C>T	12.37:g.7249062G>A						C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	p.G463G	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			6	1481	-			463			Peptidase S1.		Q53GX9	Silent	SNP	ENST00000266542.4	37	c.1389C>T	CCDS8573.1																																																																																				0.562	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		60	429	0	0	0	1	0	60	429				
OR6C74	254783	broad.mit.edu	37	12	55641685	55641685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55641685T>G	ENST00000343870.4	+	1	704	c.614T>G	c.(613-615)cTc>cGc	p.L205R		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGACGCTCCTGGTTACA	0.368																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(613-615)cTc>cGc		olfactory receptor, family 6, subfamily C, member 74							94.0	86.0	89.0					12																	55641685		2203	4300	6503	SO:0001583	missense	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641685T>G		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.614T>G	12.37:g.55641685T>G	ENSP00000342836:p.Leu205Arg						p.L205R	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	704	+			205						Missense_Mutation	SNP	ENST00000343870.4	37	c.614T>G	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	t	11.76	1.734754	0.30774	.	.	ENSG00000197706	ENST00000343870	T	0.39056	1.1	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000303	T	0.69860	0.3158	H	0.94385	3.53	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.69015	-0.5257	10	0.87932	D	0	.	7.3485	0.26676	0.0:0.0766:0.1464:0.777	.	205	A6NCV1	O6C74_HUMAN	R	205	ENSP00000342836:L205R	ENSP00000342836:L205R	L	+	2	0	OR6C74	53927952	0.003000	0.15002	0.094000	0.20943	0.230000	0.25150	1.468000	0.35332	2.196000	0.70406	0.451000	0.29950	CTC		0.368	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			25	386	0	0	0	1	0	25	386				
DTNB	1838	broad.mit.edu	37	2	25861906	25861906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25861906C>T	ENST00000406818.3	-	3	374	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q|DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	42						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTACAAATCGTAATTTGCA	0.343																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(124-126)cGa>cAa		dystrobrevin, beta							86.0	84.0	85.0					2																	25861906		1851	4096	5947	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25861906C>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.125G>A	2.37:g.25861906C>T	ENSP00000384084:p.Arg42Gln					DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q	p.R42Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			3	374	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		42					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.125G>A	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244952	0.95272	.	.	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.96	5.96	0.96718	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	M	0.75150	2.29	0.80722	D	1	D;P;D;D;D;D;P;P	0.89917	0.995;0.884;0.998;1.0;1.0;1.0;0.916;0.875	P;P;P;D;D;D;P;B	0.81914	0.823;0.473;0.899;0.995;0.98;0.99;0.493;0.383	T	0.81745	-0.0792	10	0.54805	T	0.06	-7.3487	17.1412	0.86754	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42;42;42	O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	Q	42	ENSP00000384084:R42Q;ENSP00000385482:R42Q;ENSP00000385193:R42Q;ENSP00000384767:R42Q;ENSP00000384787:R42Q;ENSP00000385784:R42Q;ENSP00000288642:R42Q;ENSP00000306529:R42Q;ENSP00000340957:R42Q	ENSP00000288642:R42Q	R	-	2	0	DTNB	25715410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.479000	0.73600	2.832000	0.97577	0.655000	0.94253	CGA		0.343	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		7	47	0	0	0	1	0	7	47				
NRIP3	56675	broad.mit.edu	37	11	9009763	9009763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9009763G>A	ENST00000309166.3	-	2	354	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	81							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAAGGGACACGGGGACCGCTT	0.493																																						ENST00000309166.3																			0				large_intestine(1)|lung(4)|skin(1)|stomach(1)	7						c.(241-243)Cgt>Tgt		nuclear receptor interacting protein 3							148.0	137.0	141.0					11																	9009763		2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9009763G>A	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.241C>T	11.37:g.9009763G>A	ENSP00000310205:p.Arg81Cys					NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	p.R81C	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	2	354	-			81					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.241C>T	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644065	0.87859	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.48201	0.82	6.06	5.14	0.70334	.	0.114972	0.64402	D	0.000015	T	0.58250	0.2109	L	0.51422	1.61	0.58432	D	0.99999	D	0.76494	0.999	P	0.56088	0.791	T	0.62651	-0.6809	10	0.72032	D	0.01	-34.6088	16.3598	0.83257	0.0:0.1324:0.8676:0.0	.	81	Q9NQ35	NRIP3_HUMAN	C	81;81;74	ENSP00000310205:R81C	ENSP00000310205:R81C	R	-	1	0	NRIP3	8966339	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	4.651000	0.61447	1.555000	0.49500	0.655000	0.94253	CGT		0.493	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		134	583	0	0	0	1	0	134	583				
BCL9	607	broad.mit.edu	37	1	147092306	147092306	+	Missense_Mutation	SNP	G	G	T	rs34002844	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147092306G>T	ENST00000234739.3	+	8	3085	c.2345G>T	c.(2344-2346)aGa>aTa	p.R782I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	782	Pro-rich.		R -> K (in dbSNP:rs34002844).		canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGGGCCCCAGACCATTCCTT	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2344-2346)aGa>aTa		B-cell CLL/lymphoma 9							44.0	45.0	45.0					1																	147092306		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092306G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2345G>T	1.37:g.147092306G>T	ENSP00000234739:p.Arg782Ile						p.R782I	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3085	+	all_hematologic(923;0.115)		782		R -> K (in dbSNP:rs34002844).	Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.2345G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438270	0.25900	.	.	ENSG00000116128	ENST00000234739	T	0.52526	0.66	5.0	4.09	0.47781	.	0.148378	0.64402	D	0.000013	T	0.21881	0.0527	N	0.19112	0.55	0.58432	D	0.999996	P;P	0.44578	0.838;0.838	B;B	0.41813	0.367;0.367	T	0.06679	-1.0813	10	0.51188	T	0.08	-13.7937	13.4586	0.61214	0.0751:0.0:0.9249:0.0	.	782;782	Q1JQ81;O00512	.;BCL9_HUMAN	I	782	ENSP00000234739:R782I	ENSP00000234739:R782I	R	+	2	0	BCL9	145558930	1.000000	0.71417	0.686000	0.30086	0.003000	0.03518	6.216000	0.72212	1.351000	0.45789	-0.136000	0.14681	AGA		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		22	167	1	0	1.42536e-11	1	1.52187e-11	22	167				
DOC2A	8448	broad.mit.edu	37	16	30021360	30021360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30021360C>T	ENST00000350119.4	-	2	374	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T|DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T|DOC2A_ENST00000567824.1_5'Flank	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	62	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GCAGGGGGGGCCAGAGCCAGG	0.706																																						ENST00000350119.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(184-186)Gcc>Acc		double C2-like domains, alpha							16.0	18.0	17.0					16																	30021360		2171	4232	6403	SO:0001583	missense	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30021360C>T	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.184G>A	16.37:g.30021360C>T	ENSP00000340017:p.Ala62Thr					DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T|DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T	p.A62T	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN			2	374	-			62			Interaction with UNC13D and DYNLT1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	37	c.184G>A	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592566	0.46214	.	.	ENSG00000149927	ENST00000350119	T	0.62364	0.03	4.23	3.2	0.36748	.	0.200290	0.24791	N	0.035562	T	0.36663	0.0975	N	0.14661	0.345	0.28953	N	0.890294	B	0.06786	0.001	B	0.04013	0.001	T	0.13548	-1.0505	10	0.13108	T	0.6	.	6.3465	0.21353	0.2189:0.5965:0.1846:0.0	.	62	Q14183	DOC2A_HUMAN	T	62	ENSP00000340017:A62T	ENSP00000340017:A62T	A	-	1	0	DOC2A	29928861	0.148000	0.22702	1.000000	0.80357	0.985000	0.73830	0.291000	0.18994	2.203000	0.70933	0.561000	0.74099	GCC		0.706	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		63	263	0	0	0	1	0	63	263				
NUP98	4928	broad.mit.edu	37	11	3793016	3793016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3793016C>T	ENST00000324932.7	-	7	1166	c.746G>A	c.(745-747)gGc>gAc	p.G249D	NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D|NUP98_ENST00000359171.4_Missense_Mutation_p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	249	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATATGCAAAGCCTGAATTAGT	0.448			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(745-747)gGc>gAc		nucleoporin 98kDa							126.0	119.0	122.0					11																	3793016		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3793016C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.746G>A	11.37:g.3793016C>T	ENSP00000316032:p.Gly249Asp					NUP98_ENST00000359171.4_Missense_Mutation_p.G249D|NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D	p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	7	1166	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	249			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.746G>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509444	0.64522	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.72	4.79	0.61399	.	0.240110	0.42420	D	0.000701	T	0.58119	0.2100	M	0.76838	2.35	0.31610	N	0.651631	P;P;B;P;P	0.39903	0.568;0.649;0.069;0.694;0.694	B;B;B;B;B	0.41299	0.193;0.322;0.082;0.353;0.353	T	0.68100	-0.5498	9	0.42905	T	0.14	.	15.1002	0.72269	0.0:0.8525:0.1475:0.0	.	249;249;249;249;249	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	D	249	.	ENSP00000316032:G249D	G	-	2	0	NUP98	3749592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.261000	0.43276	1.388000	0.46506	0.655000	0.94253	GGC		0.448	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		38	245	0	0	0	1	0	38	245				
COL14A1	7373	broad.mit.edu	37	8	121262977	121262977	+	Silent	SNP	C	C	T	rs113536778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121262977C>T	ENST00000297848.3	+	22	2994	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S813S|COL14A1_ENST00000309791.4_Silent_p.S908S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGGCTTCAGCGACGCCCTGA	0.478																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2722-2724)agC>agT		collagen, type XIV, alpha 1		C		0,4406		0,0,2203	81.0	72.0	75.0		2724	-1.8	0.9	8	dbSNP_132	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL14A1	NM_021110.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		908/1797	121262977	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121262977C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2724C>T	8.37:g.121262977C>T						COL14A1_ENST00000309791.4_Silent_p.S908S|COL14A1_ENST00000247781.3_Silent_p.S813S|COL14A1_ENST00000432943.2_3'UTR	p.S908S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		22	2994	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		908			Fibronectin type-III 7.			Silent	SNP	ENST00000297848.3	37	c.2724C>T	CCDS34938.1																																																																																				0.478	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		44	196	0	0	0	1	0	44	196				
RYR3	6263	broad.mit.edu	37	15	33872190	33872190	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33872190A>G	ENST00000389232.4	+	13	1352	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A	RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	428					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAACAATCGCACAGCTGCCCC	0.557																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1282-1284)Aca>Gca		ryanodine receptor 3							58.0	57.0	57.0					15																	33872190		2009	4186	6195	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33872190A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1282A>G	15.37:g.33872190A>G	ENSP00000373884:p.Thr428Ala					RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	p.T428A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	13	1352	+		all_lung(180;7.18e-09)	428					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1282A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	5.532	0.283132	0.10458	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96427	-4.01;-4.01	5.15	5.15	0.70609	.	0.370359	0.29376	N	0.012324	D	0.88865	0.6553	N	0.17082	0.46	0.28262	N	0.924809	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.75838	-0.3176	10	0.06099	T	0.92	.	7.2164	0.25961	0.778:0.1465:0.0756:0.0	.	428;428	Q15413-2;Q15413	.;RYR3_HUMAN	A	428	ENSP00000373884:T428A;ENSP00000399610:T428A	ENSP00000354735:T428A	T	+	1	0	RYR3	31659482	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.266000	0.43320	2.160000	0.67779	0.533000	0.62120	ACA		0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			35	204	0	0	0	1	0	35	204				
SLC24A5	283652	broad.mit.edu	37	15	48414088	48414088	+	Silent	SNP	G	G	A	rs539688524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48414088G>A	ENST00000341459.3	+	2	229	c.156G>A	c.(154-156)tcG>tcA	p.S52S	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000482911.2_Silent_p.S52S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	52					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCCATCATCGGAGTTTCCCG	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18597	0.0		0.0	False		,,,				2504	0.0					ENST00000482911.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(154-156)tcG>tcA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							122.0	125.0	124.0					15																	48414088		2198	4297	6495	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48414088G>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.156G>A	15.37:g.48414088G>A						SLC24A5_ENST00000341459.3_Silent_p.S52S|SLC24A5_ENST00000449382.2_Intron	p.S52S			Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	2	197	+		all_lung(180;0.00217)	52					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.156G>A	CCDS10128.1																																																																																				0.428	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		88	399	0	0	0	1	0	88	399				
AHCY	191	broad.mit.edu	37	20	32879233	32879233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32879233C>T	ENST00000217426.2	-	5	627	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	AHCY_ENST00000468908.1_5'Flank|AHCY_ENST00000538132.1_Missense_Mutation_p.V156I	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	184					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTTGGTGACGGAGTCATTG	0.582																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(466-468)Gtc>Atc		adenosylhomocysteinase							141.0	124.0	130.0					20																	32879233		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32879233C>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.550G>A	20.37:g.32879233C>T	ENSP00000217426:p.Val184Ile					AHCY_ENST00000217426.2_Missense_Mutation_p.V184I	p.V156I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			5	852	-			184					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.466G>A	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022397	0.75275	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.81821	-1.54;-1.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	L	0.42744	1.35	0.80722	D	1	B	0.23058	0.079	B	0.20577	0.03	T	0.74645	-0.3596	10	0.87932	D	0	.	19.3338	0.94306	0.0:1.0:0.0:0.0	.	184	P23526	SAHH_HUMAN	I	184;156	ENSP00000217426:V184I;ENSP00000442820:V156I	ENSP00000217426:V184I	V	-	1	0	AHCY	32342894	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.986000	0.70563	2.639000	0.89480	0.561000	0.74099	GTC		0.582	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		80	417	0	0	0	1	0	80	417				
ANKK1	255239	broad.mit.edu	37	11	113266921	113266921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113266921C>T	ENST00000303941.3	+	5	909	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACCAGGACCCCAAGAAGAGG	0.647																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(814-816)cCc>cTc		ankyrin repeat and kinase domain containing 1							91.0	96.0	94.0					11																	113266921		1970	4134	6104	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113266921C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.815C>T	11.37:g.113266921C>T	ENSP00000306678:p.Pro272Leu						p.P272L	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	5	909	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	272			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.815C>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357838	0.24598	.	.	ENSG00000170209	ENST00000303941	T	0.46819	0.86	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139368	0.32161	U	0.006485	T	0.60143	0.2246	M	0.90977	3.165	0.50039	D	0.99984	B	0.22746	0.074	B	0.26202	0.067	T	0.67534	-0.5646	10	0.66056	D	0.02	-30.2474	16.2135	0.82186	0.0:1.0:0.0:0.0	.	272	Q8NFD2	ANKK1_HUMAN	L	272	ENSP00000306678:P272L	ENSP00000306678:P272L	P	+	2	0	ANKK1	112772131	0.037000	0.19845	1.000000	0.80357	0.015000	0.08874	0.365000	0.20348	2.285000	0.76669	0.462000	0.41574	CCC		0.647	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		65	443	0	0	0	1	0	65	443				
KIAA0368	23392	broad.mit.edu	37	9	114178627	114178627	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114178627A>G	ENST00000338205.5	-	17	1908	c.1689T>C	c.(1687-1689)tcT>tcC	p.S563S	KIAA0368_ENST00000259335.4_Silent_p.S741S			Q5VYK3	ECM29_HUMAN	KIAA0368	569					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCATTCGATGAGAAGCCTAAG	0.393																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2221-2223)tcT>tcC		KIAA0368							76.0	74.0	75.0					9																	114178627		1856	4105	5961	SO:0001819	synonymous_variant	23392							g.chr9:114178627A>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1689T>C	9.37:g.114178627A>G						KIAA0368_ENST00000338205.5_Silent_p.S563S	p.S741S	NM_001080398.1	NP_001073867.1					19	2222	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.2223T>C																																																																																					0.393	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		29	134	0	0	0	1	0	29	134				
C7	730	broad.mit.edu	37	5	40972682	40972682	+	Missense_Mutation	SNP	G	G	A	rs113187203	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40972682G>A	ENST00000313164.9	+	15	2419	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	687	CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> H (in C7D). {ECO:0000269|PubMed:9856499}.		cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AAGAATGCCCGCTGTGTACAA	0.498													G|||	9	0.00179712	0.0053	0.0029	5008	,	,		18066	0.0		0.0	False		,,,				2504	0.0					ENST00000313164.9																			0						GRCh37	CM980286	C7	M	rs113187203	c.(2059-2061)cGc>cAc		complement component 7		G	HIS/ARG	11,4087		0,11,2038	158.0	153.0	155.0		2060	-4.2	0.0	5	dbSNP_132	155	0,8416		0,0,4208	yes	missense	C7	NM_000587.2	29	0,11,6246	AA,AG,GG		0.0,0.2684,0.0879	benign	687/844	40972682	11,12503	2049	4208	6257	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40972682G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2060G>A	5.37:g.40972682G>A	ENSP00000322061:p.Arg687His					C7_ENST00000494960.1_3'UTR	p.R687H	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			15	2419	+		Ovarian(839;0.0112)	687		R -> H (in C7D).	Sushi 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2060G>A	CCDS47201.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	5.568	0.289660	0.10567	0.002684	0.0	ENSG00000112936	ENST00000313164	T	0.65549	-0.16	5.93	-4.15	0.03881	Complement control module (1);Sushi/SCR/CCP (2);	1.012530	0.07905	N	0.973392	T	0.37705	0.1013	N	0.05078	-0.115	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.23440	-1.0188	10	0.22706	T	0.39	-0.4173	13.1334	0.59395	0.5021:0.0:0.4979:0.0	.	687	P10643	CO7_HUMAN	H	687	ENSP00000322061:R687H	ENSP00000322061:R687H	R	+	2	0	C7	41008439	0.000000	0.05858	0.006000	0.13384	0.522000	0.34438	0.096000	0.15147	-1.073000	0.03137	-0.229000	0.12294	CGC		0.498	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			63	582	0	0	0	1	0	63	582				
PPL	5493	broad.mit.edu	37	16	4938987	4938987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4938987C>A	ENST00000345988.2	-	19	2478	c.2389G>T	c.(2389-2391)Gct>Tct	p.A797S	PPL_ENST00000590782.2_Missense_Mutation_p.A795S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	797					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCTTTACAGCTTGCTGGTAC	0.512																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2389-2391)Gct>Tct		periplakin							349.0	342.0	344.0					16																	4938987		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4938987C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2389G>T	16.37:g.4938987C>A	ENSP00000340510:p.Ala797Ser					PPL_ENST00000590782.2_Missense_Mutation_p.A795S	p.A797S	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			19	2478	-			797					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2389G>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837230	0.71373	.	.	ENSG00000118898	ENST00000345988	T	0.55052	0.54	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74256	-0.3724	10	0.59425	D	0.04	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	797	O60437	PEPL_HUMAN	S	797	ENSP00000340510:A797S	ENSP00000340510:A797S	A	-	1	0	PPL	4878988	1.000000	0.71417	0.765000	0.31456	0.118000	0.20060	5.210000	0.65214	2.569000	0.86673	0.555000	0.69702	GCT		0.512	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		446	1873	1	0	2.09492e-81	1	2.68073e-81	446	1873				
FSCN3	29999	broad.mit.edu	37	7	127235810	127235810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127235810C>A	ENST00000265825.5	+	2	813	c.594C>A	c.(592-594)ttC>ttA	p.F198L	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	198						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CACACCACTTCTTGTCCCATG	0.562																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(592-594)ttC>ttA		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							181.0	146.0	158.0					7																	127235810		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235810C>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.594C>A	7.37:g.127235810C>A	ENSP00000265825:p.Phe198Leu					FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L	p.F198L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	813	+			198					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.594C>A	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496496	0.64186	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.52526	1.28;0.66	5.44	1.53	0.23141	Actin cross-linking (1);	0.000000	0.64402	D	0.000005	T	0.56529	0.1991	L	0.55103	1.725	0.32960	D	0.520866	D;D	0.76494	0.997;0.999	P;P	0.62740	0.906;0.874	T	0.64807	-0.6320	10	0.49607	T	0.09	-32.0539	10.5591	0.45135	0.0:0.6852:0.0:0.3148	.	64;198	B4DU68;Q9NQT6	.;FSCN3_HUMAN	L	198;64	ENSP00000265825:F198L;ENSP00000412243:F64L	ENSP00000265825:F198L	F	+	3	2	FSCN3	127023046	0.250000	0.23951	0.911000	0.35937	0.912000	0.54170	0.019000	0.13444	0.088000	0.17205	-0.813000	0.03139	TTC		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		82	343	1	0	1.92282e-43	1	2.34754e-43	82	343				
USH1C	10083	broad.mit.edu	37	11	17517163	17517163	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17517163G>A	ENST00000318024.4	-	20	1755				USH1C_ENST00000005226.7_Missense_Mutation_p.R870C|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACGGCAGCACGGTCTTCAAGG	0.587																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2608-2610)Cgt>Tgt		Usher syndrome 1C (autosomal recessive, severe)							112.0	119.0	117.0					11																	17517163		2200	4293	6493	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17517163G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1646+1141C>T	11.37:g.17517163G>A						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron	p.R870C	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			26	2607	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.2608C>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888013	0.33348	.	.	ENSG00000006611	ENST00000005226	T	0.24151	1.87	5.47	-8.1	0.01086	.	0.853604	0.10059	N	0.721166	T	0.10337	0.0253	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23797	-1.0178	9	0.39692	T	0.17	.	0.8868	0.01246	0.3703:0.2741:0.1379:0.2176	.	870	Q7RTU8	.	C	870	ENSP00000005226:R870C	ENSP00000005226:R870C	R	-	1	0	USH1C	17473739	0.298000	0.24417	0.002000	0.10522	0.879000	0.50718	0.246000	0.18160	-1.278000	0.02408	-0.142000	0.14014	CGT		0.587	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		194	765	0	0	0	1	0	194	765				
ZNF732	654254	broad.mit.edu	37	4	265610	265610	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:265610A>G	ENST00000419098.1	-	4	1046	c.1036T>C	c.(1036-1038)Tcc>Ccc	p.S346P		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						AGAACTGAGGACCTACTAAAG	0.393																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(1036-1038)Tcc>Ccc		zinc finger protein 732							48.0	44.0	45.0					4																	265610		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265610A>G	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1036T>C	4.37:g.265610A>G	ENSP00000415774:p.Ser346Pro						p.S346P	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	1046	-			346						Missense_Mutation	SNP	ENST00000419098.1	37	c.1036T>C	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	A	5.439	0.266147	0.10294	.	.	ENSG00000186777	ENST00000419098	T	0.36699	1.24	0.977	-1.33	0.09172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43787	0.1263	L	0.50919	1.6	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.32402	-0.9908	9	0.33940	T	0.23	.	3.3896	0.07283	0.4025:0.0:0.0:0.5975	.	346	B4DXR9	ZN732_HUMAN	P	346	ENSP00000415774:S346P	ENSP00000415774:S346P	S	-	1	0	ZNF732	255610	0.000000	0.05858	0.095000	0.20976	0.087000	0.18053	-0.790000	0.04604	0.338000	0.23692	0.329000	0.21502	TCC		0.393	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		29	127	0	0	0	1	0	29	127				
COL2A1	1280	broad.mit.edu	37	12	48391959	48391959	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48391959A>G	ENST00000380518.3	-	4	499	c.335T>C	c.(334-336)aTc>aCc	p.I112T	COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	112					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TACATCCTTGATGTCTCCAGG	0.483																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(334-336)aTc>aCc		collagen, type II, alpha 1	Collagenase(DB00048)						161.0	154.0	156.0					12																	48391959		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48391959A>G	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.335T>C	12.37:g.48391959A>G	ENSP00000369889:p.Ile112Thr					COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	p.I112T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			4	499	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	112					A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.335T>C	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153460	0.57259	.	.	ENSG00000139219	ENST00000380518;ENST00000337299	D;D	0.93366	-3.21;-3.21	5.04	5.04	0.67666	.	.	.	.	.	D	0.86867	0.6036	N	0.25286	0.73	0.54753	D	0.999985	P;B	0.36535	0.557;0.421	B;B	0.28305	0.088;0.059	D	0.88114	0.2827	9	0.72032	D	0.01	.	14.0685	0.64847	1.0:0.0:0.0:0.0	.	43;112	P02458-1;P02458	.;CO2A1_HUMAN	T	112;43	ENSP00000369889:I112T;ENSP00000338213:I43T	ENSP00000338213:I43T	I	-	2	0	COL2A1	46678226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.801000	0.91905	2.047000	0.60756	0.454000	0.30748	ATC		0.483	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		80	322	0	0	0	1	0	80	322				
PCDH15	65217	broad.mit.edu	37	10	55892654	55892654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55892654G>T	ENST00000320301.6	-	15	2292	c.1898C>A	c.(1897-1899)gCt>gAt	p.A633D	PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A640D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATAAAACAGCACCAACCCT	0.388										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1918-1920)gCt>gAt		protocadherin-related 15							110.0	90.0	97.0					10																	55892654		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55892654G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1898C>A	10.37:g.55892654G>T	ENSP00000322604:p.Ala633Asp	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A633D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D	p.A640D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			16	2313	-		Melanoma(3;0.117)|Lung SC(717;0.238)	633			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1919C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721110	0.89205	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64940	0.2644	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.987;1.0;1.0;1.0;1.0;0.999;1.0;0.972;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.985;0.966;1.0;1.0;0.998;0.995;0.992;0.998;0.946;0.996;0.992;0.998	T	0.60229	-0.7304	9	0.41790	T	0.15	.	18.9066	0.92464	0.0:0.0:1.0:0.0	.	611;633;633;638;596;633;633;640;640;633;638;633;611;633	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	640;638;633;633;244;640;633;596;633;611;611;633;633;638;633	ENSP00000363076:A640D;ENSP00000410304:A638D;ENSP00000378826:A633D;ENSP00000386693:A244D;ENSP00000378832:A640D;ENSP00000378833:A633D;ENSP00000378820:A596D;ENSP00000354950:A633D;ENSP00000378821:A611D;ENSP00000363068:A611D;ENSP00000322604:A633D;ENSP00000378818:A633D;ENSP00000363066:A633D	ENSP00000322604:A633D	A	-	2	0	PCDH15	55562660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.438000	0.97539	2.838000	0.97847	0.591000	0.81541	GCT		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		20	111	1	0	1.50039e-11	1	1.60151e-11	20	111				
CDH26	60437	broad.mit.edu	37	20	58587641	58587641	+	Intron	SNP	C	C	T	rs375717739		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58587641C>T	ENST00000244047.5	+	15	2483				CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Silent_p.S785S|CDH26_ENST00000350849.6_Silent_p.S118S|CDH26_ENST00000244049.3_Silent_p.S77S			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACGTCTACAGCGAGGAAGGGG	0.547																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(2353-2355)agC>agT		cadherin 26		C	,	0,4406		0,0,2203	99.0	92.0	94.0		354,2355	-7.6	0.0	20		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH26	NM_021810.4,NM_177980.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	118/166,785/833	58587641	1,13005	2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58587641C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5799C>T	20.37:g.58587641C>T						CDH26_ENST00000244047.5_Intron|CDH26_ENST00000244049.3_Silent_p.S77S|CDH26_ENST00000350849.6_Silent_p.S118S|CDH26_ENST00000497614.1_3'UTR	p.S785S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		18	2655	+	all_lung(29;0.00963)		0					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.2355C>T																																																																																					0.547	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		83	353	0	0	0	1	0	83	353				
KIAA0355	9710	broad.mit.edu	37	19	34791678	34791678	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34791678C>A	ENST00000299505.6	+	2	1173	c.300C>A	c.(298-300)ctC>ctA	p.L100L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	100										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCACAGATCTCTTCAGCACTG	0.547																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(298-300)ctC>ctA		KIAA0355							73.0	62.0	66.0					19																	34791678		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34791678C>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.300C>A	19.37:g.34791678C>A							p.L100L	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	1173	+	Esophageal squamous(110;0.162)		100					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.300C>A	CCDS12436.1																																																																																				0.547	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		75	255	1	0	7.25294e-45	1	8.88171e-45	75	255				
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A	rs376671798		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCGTCCCGAACTGTCTGC	0.642																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1498-1500)tCg>tTg		zinc finger protein 835							119.0	131.0	127.0					19																	57175068		2200	4299	6499	SO:0001583	missense	90485							g.chr19:57175068G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1499C>T	19.37:g.57175068G>A	ENSP00000444747:p.Ser500Leu						p.S500L	NM_001005850.2	NP_001005850.2					2	1730	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1499C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885100	0.17540	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07114	3.22	2.15	-4.29	0.03721	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39187	-0.9626	9	0.87932	D	0	.	11.1417	0.48406	0.0:0.6885:0.1825:0.129	.	522	Q9Y2P0	ZN835_HUMAN	L	522;500	ENSP00000444747:S500L	ENSP00000341756:S522L	S	-	2	0	ZNF835	61866880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-1.571000	0.01663	-0.311000	0.09066	TCG		0.642	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		206	887	0	0	0	1	0	206	887				
SLC35A4	113829	broad.mit.edu	37	5	139947164	139947164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947164G>A	ENST00000514199.1	+	2	2096	c.410G>A	c.(409-411)cGc>cAc	p.R137H	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H|APBB3_ENST00000357560.4_5'Flank			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	137	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.R137L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCACCGCCTCTCTGTG	0.592																																						ENST00000514199.1																			1	Substitution - Missense(1)	p.R137L(1)	kidney(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(409-411)cGc>cAc		solute carrier family 35, member A4							41.0	42.0	42.0					5																	139947164		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947164G>A	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.410G>A	5.37:g.139947164G>A	ENSP00000424566:p.Arg137His					APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H	p.R137H			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2096	+			137			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.410G>A	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856334	0.51376	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.49720	0.77;0.77	5.11	4.23	0.50019	.	0.062145	0.64402	N	0.000009	T	0.46521	0.1397	M	0.72894	2.215	0.53005	D	0.999962	B	0.31351	0.32	B	0.29942	0.109	T	0.44097	-0.9350	9	.	.	.	.	13.2176	0.59869	0.0774:0.0:0.9226:0.0	.	137	Q96G79	S35A4_HUMAN	H	137	ENSP00000327133:R137H;ENSP00000424566:R137H	.	R	+	2	0	SLC35A4	139927348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.395000	0.79876	1.381000	0.46364	0.514000	0.50259	CGC		0.592	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		83	272	0	0	0	1	0	83	272				
ULK4	54986	broad.mit.edu	37	3	41746756	41746756	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746756A>G	ENST00000301831.4	-	26	3138	c.2676T>C	c.(2674-2676)gaT>gaC	p.D892D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	892					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTATGGCTCCATCTATGTTCG	0.274																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2674-2676)gaT>gaC		unc-51 like kinase 4							91.0	84.0	86.0					3																	41746756		1808	4077	5885	SO:0001819	synonymous_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41746756A>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2676T>C	3.37:g.41746756A>G							p.D892D	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	26	3138	-			892					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	37	c.2676T>C	CCDS43071.1																																																																																				0.274	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		12	298	0	0	0	1	0	12	298				
KLHDC4	54758	broad.mit.edu	37	16	87764215	87764215	+	Missense_Mutation	SNP	C	C	T	rs145431417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764215C>T	ENST00000270583.5	-	6	600	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	181										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GGCCACCATCCGATGTCCACT	0.433													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18624	0.001		0.0	False		,,,				2504	0.0					ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(541-543)cGg>cAg		kelch domain containing 4		C	GLN/ARG,,GLN/ARG	6,4390	11.4+/-27.6	0,6,2192	136.0	120.0	126.0		371,,542	4.9	1.0	16	dbSNP_134	126	0,8600		0,0,4300	yes	missense,intron,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	43,,43	0,6,6492	TT,TC,CC		0.0,0.1365,0.0462	probably-damaging,,probably-damaging	124/464,,181/521	87764215	6,12990	2198	4300	6498	SO:0001583	missense	54758							g.chr16:87764215C>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.542G>A	16.37:g.87764215C>T	ENSP00000270583:p.Arg181Gln					KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q	p.R181Q	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	6	600	-			181					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.542G>A	CCDS10963.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.604795	0.96626	0.001365	0.0	ENSG00000104731	ENST00000270583;ENST00000353170	T;T	0.62232	0.04;0.04	4.92	4.92	0.64577	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.953	T	0.79926	-0.1597	10	0.59425	D	0.04	-1.9439	15.2697	0.73689	0.0:1.0:0.0:0.0	.	124;181	Q8TBB5-2;Q8TBB5	.;KLDC4_HUMAN	Q	181;124	ENSP00000270583:R181Q;ENSP00000262530:R124Q	ENSP00000270583:R181Q	R	-	2	0	KLHDC4	86321716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.499000	0.73683	2.272000	0.75746	0.655000	0.94253	CGG		0.433	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		32	553	0	0	0	1	0	32	553				
PEX3	8504	broad.mit.edu	37	6	143811744	143811744	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143811744G>A	ENST00000367591.4	+	0	1969				RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3						peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AACCTGATTTGAAAACAAAAT	0.428																																						ENST00000591892.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr6:143811744G>A	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730		6.37:g.143811744G>A														0	270	+								Q6FGP5	RNA	SNP	ENST00000367591.4	37		CCDS5199.1																																																																																				0.428	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			8	44	0	0	0	1	0	8	44				
CHL1	10752	broad.mit.edu	37	3	407729	407729	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:407729A>G	ENST00000256509.2	+	15	2324	c.1682A>G	c.(1681-1683)aAa>aGa	p.K561R	CHL1_ENST00000397491.2_Missense_Mutation_p.K545R|CHL1-AS1_ENST00000608098.1_RNA|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCACATTTGAAACACAGTTTG	0.358																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1681-1683)aAa>aGa		cell adhesion molecule L1-like							120.0	115.0	117.0					3																	407729		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:407729A>G	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1682A>G	3.37:g.407729A>G	ENSP00000256509:p.Lys561Arg					CHL1_ENST00000397491.2_Missense_Mutation_p.K545R|CHL1-AS1_ENST00000417612.1_RNA	p.K561R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	15	2324	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	545			Ig-like C2-type 6.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1682A>G	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	4.950	0.176486	0.09443	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12147	2.71;2.71	5.18	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.267819	0.42821	N	0.000646	T	0.10035	0.0246	L	0.36672	1.1	0.29378	N	0.863517	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.11329	0.006;0.006;0.003	T	0.20571	-1.0271	10	0.25751	T	0.34	.	8.0794	0.30735	0.8376:0.0:0.1624:0.0	.	545;545;561	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	R	561;545	ENSP00000256509:K561R;ENSP00000380628:K545R	ENSP00000256509:K561R	K	+	2	0	CHL1	382729	0.796000	0.28864	0.018000	0.16275	0.433000	0.31745	1.362000	0.34148	0.383000	0.24910	0.460000	0.39030	AAA		0.358	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		73	288	0	0	0	1	0	73	288				
SORT1	6272	broad.mit.edu	37	1	109859483	109859483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109859483G>A	ENST00000256637.6	-	17	2297	c.2239C>T	c.(2239-2241)Ccg>Tcg	p.P747S	SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	747	Interactions with LRPAP1 and NGFB.				endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGTTTTTCCGGACTCAAAAAG	0.373																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(2239-2241)Ccg>Tcg		sortilin 1							138.0	134.0	135.0					1																	109859483		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109859483G>A	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.2239C>T	1.37:g.109859483G>A	ENSP00000256637:p.Pro747Ser					SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	p.P747S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	17	2297	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	747			Interactions with LRPAP1 and NGFB.		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.2239C>T	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313533	0.40996	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.14266	2.52;2.55	5.65	4.7	0.59300	.	0.412269	0.26757	N	0.022655	T	0.02380	0.0073	N	0.12182	0.205	0.47276	D	0.999379	B;B	0.20261	0.019;0.043	B;B	0.11329	0.003;0.006	T	0.40001	-0.9586	10	0.20046	T	0.44	-5.7976	8.1127	0.30924	0.1928:0.0:0.8072:0.0	.	610;747	B4DWI3;Q99523	.;SORT_HUMAN	S	747;610	ENSP00000256637:P747S;ENSP00000438597:P610S	ENSP00000256637:P747S	P	-	1	0	SORT1	109661006	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.323000	0.65858	1.295000	0.44724	-0.345000	0.07892	CCG		0.373	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		59	432	0	0	0	1	0	59	432				
LLGL1	3996	broad.mit.edu	37	17	18145222	18145222	+	Nonsense_Mutation	SNP	G	G	T	rs566558385	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18145222G>T	ENST00000316843.4	+	19	2887	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	931					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ATCCCCATCAGAATTTGAACG	0.572																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2791-2793)Gaa>Taa		lethal giant larvae homolog 1 (Drosophila)							87.0	86.0	86.0					17																	18145222		2203	4300	6503	SO:0001587	stop_gained	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18145222G>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2791G>T	17.37:g.18145222G>T	ENSP00000321537:p.Glu931*						p.E931*	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			19	2887	+	all_neural(463;0.228)		931					A7MBM7|O00188|Q58F11|Q86UK6	Nonsense_Mutation	SNP	ENST00000316843.4	37	c.2791G>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	40	8.437037	0.98810	.	.	ENSG00000131899	ENST00000316843	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7618	19.5134	0.95153	0.0:0.0:1.0:0.0	.	.	.	.	X	931	.	ENSP00000321537:E931X	E	+	1	0	LLGL1	18085947	1.000000	0.71417	0.940000	0.37924	0.827000	0.46813	9.350000	0.97070	2.696000	0.92011	0.655000	0.94253	GAA		0.572	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			97	467	1	0	4.7146e-34	1	5.60093e-34	97	467				
TBX4	9496	broad.mit.edu	37	17	59560702	59560702	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59560702G>A	ENST00000240335.1	+	8	1508	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.S489N	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	488					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGGGGGCCCAGCGCCTCATTC	0.597																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1465-1467)aGc>aAc		T-box 4							56.0	58.0	58.0					17																	59560702		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560702G>A	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1463G>A	17.37:g.59560702G>A	ENSP00000240335:p.Ser488Asn					TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.S488N	p.S489N			P57082	TBX4_HUMAN			9	1629	+			488					A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.1466G>A	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.501072	0.12822	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.42131	0.98;0.98	5.34	0.827	0.18835	.	1.492660	0.03395	N	0.202441	T	0.39064	0.1064	L	0.34521	1.04	0.09310	N	1	B;B	0.15719	0.014;0.003	B;B	0.12837	0.008;0.002	T	0.42310	-0.9459	9	.	.	.	.	17.2199	0.86954	0.0:0.4701:0.5299:0.0	.	489;488	A5PKU7;P57082	.;TBX4_HUMAN	N	489;488	ENSP00000377435:S489N;ENSP00000240335:S488N	.	S	+	2	0	TBX4	56915484	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	0.481000	0.22260	-0.046000	0.13446	-0.165000	0.13383	AGC		0.597	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		69	300	0	0	0	1	0	69	300				
ASXL2	55252	broad.mit.edu	37	2	25965233	25965233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25965233G>A	ENST00000435504.4	-	13	4266	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1325					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATAGCTTGGCCCTATCTGG	0.532																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(3973-3975)Cca>Tca		additional sex combs like 2 (Drosophila)							31.0	30.0	30.0					2																	25965233		1946	4137	6083	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965233G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3973C>T	2.37:g.25965233G>A	ENSP00000391447:p.Pro1325Ser					ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S|ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S	p.P1325S			Q76L83	ASXL2_HUMAN			13	4266	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1325					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3973C>T		.	.	.	.	.	.	.	.	.	.	G	13.12	2.141906	0.37825	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18657	2.24;2.24;2.2;2.2	6.03	5.14	0.70334	.	0.166625	0.53938	D	0.000047	T	0.36552	0.0971	L	0.55103	1.725	0.25005	N	0.991446	D;B	0.89917	1.0;0.162	D;B	0.87578	0.998;0.055	T	0.18209	-1.0344	10	0.22706	T	0.39	-10.6364	9.4576	0.38764	0.0746:0.1453:0.7801:0.0	.	808;1325	Q76L83-2;Q76L83	.;ASXL2_HUMAN	S	1325;1297;808;808	ENSP00000391447:P1325S;ENSP00000337250:P1297S;ENSP00000383920:P808S;ENSP00000272341:P808S	ENSP00000272341:P808S	P	-	1	0	ASXL2	25818737	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.564000	0.36375	1.524000	0.49035	0.655000	0.94253	CCA		0.532	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		26	138	0	0	0	1	0	26	138				
SLC6A4	6532	broad.mit.edu	37	17	28538374	28538374	+	Missense_Mutation	SNP	T	T	C	rs28914832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28538374T>C	ENST00000401766.2	-	9	1785	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	425			I -> L (in dbSNP:rs28914832).|I -> V (polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity). {ECO:0000269|PubMed:14593431, ECO:0000269|PubMed:17913921}.		brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AAGAAGATGATGGCAAAGAAA	0.537													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21874	0.0		0.0	False		,,,				2504	0.0					ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25	GRCh37	CM033983|CM057406	SLC6A4	M	rs28914832	c.(1273-1275)Atc>Gtc		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	T	VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	139.0	129.0	133.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1273	5.2	1.0	17	dbSNP_125	133	11,8589	8.4+/-32.0	0,11,4289	yes	missense	SLC6A4	NM_001045.4	29	0,13,6490	CC,CT,TT		0.1279,0.0454,0.1	benign	425/631	28538374	13,12993	2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28538374T>C	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1273A>G	17.37:g.28538374T>C	ENSP00000385822:p.Ile425Val					SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V	p.I425V			P31645	SC6A4_HUMAN			9	1785	-			425		I -> L (in dbSNP:rs28914832).|I -> V (polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity).			Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.1273A>G	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510509	0.44660	4.54E-4	0.001279	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.72942	-0.7;-0.7	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	L	0.33792	1.035	0.80722	D	1	B	0.17465	0.022	B	0.25405	0.06	T	0.56378	-0.7989	10	0.25106	T	0.35	.	14.4528	0.67397	0.0:0.0:0.0:1.0	.	425	P31645	SC6A4_HUMAN	V	467;425;425	ENSP00000385822:I425V;ENSP00000261707:I425V	ENSP00000261707:I425V	I	-	1	0	SLC6A4	25562500	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.995000	0.63908	2.202000	0.70862	0.379000	0.24179	ATC		0.537	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		35	183	0	0	0	1	0	35	183				
AMOTL2	51421	broad.mit.edu	37	3	134080624	134080624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134080624C>T	ENST00000422605.2	-	6	1471	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	AMOTL2_ENST00000249883.5_Silent_p.E435E|AMOTL2_ENST00000514516.1_Silent_p.E493E|AMOTL2_ENST00000513145.1_Silent_p.E435E			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	435					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTCCAGCTTCTCTTGCTCCT	0.652																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1477-1479)gaG>gaA		angiomotin like 2							12.0	12.0	12.0					3																	134080624		2179	4270	6449	SO:0001819	synonymous_variant	51421							g.chr3:134080624C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1305G>A	3.37:g.134080624C>T						AMOTL2_ENST00000249883.5_Silent_p.E435E|AMOTL2_ENST00000422605.2_Silent_p.E435E|AMOTL2_ENST00000513145.1_Silent_p.E435E	p.E493E	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			6	1657	-			435					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	37	c.1479G>A																																																																																					0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		11	50	0	0	0	1	0	11	50				
RTN4R	65078	broad.mit.edu	37	22	20230563	20230563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20230563G>A	ENST00000043402.7	-	2	531	c.93C>T	c.(91-93)tgC>tgT	p.C31C	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	31	LRRNT.				axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTAGCATACGCAGGCACCTG	0.667																																						ENST00000043402.7																			0				lung(1)|ovary(1)|prostate(1)	3						c.(91-93)tgC>tgT		reticulon 4 receptor							24.0	23.0	23.0					22																	20230563		2191	4268	6459	SO:0001819	synonymous_variant	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20230563G>A	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.93C>T	22.37:g.20230563G>A						RTN4R_ENST00000469601.1_5'UTR	p.C31C	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	531	-	Colorectal(54;0.0993)		31			LRRNT.		D3DX28	Silent	SNP	ENST00000043402.7	37	c.93C>T	CCDS13777.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774633	0.02951	.	.	ENSG00000040608	ENST00000416372;ENST00000425986	.	.	.	4.65	-9.3	0.00649	.	.	.	.	.	T	0.60625	0.2283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70382	-0.4887	4	.	.	.	.	15.0807	0.72113	0.6639:0.0:0.3361:0.0	.	.	.	.	V	51;117	.	.	A	-	2	0	RTN4R	18610563	0.000000	0.05858	0.378000	0.26068	0.161000	0.22273	-4.388000	0.00242	-2.350000	0.00617	-2.488000	0.00195	GCG		0.667	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			52	201	0	0	0	1	0	52	201				
PCDHA10	56139	broad.mit.edu	37	5	140236636	140236636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140236636G>A	ENST00000307360.5	+	1	1003	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGCACGGTCCTAGTGGA	0.418																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1003-1005)Gtc>Atc									147.0	138.0	141.0					5																	140236636		2196	4271	6467	SO:0001583	missense	0							g.chr5:140236636G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1003G>A	5.37:g.140236636G>A	ENSP00000304234:p.Val335Ile					PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.V335I	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1003	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1003G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812823	0.32053	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.59906	0.23;0.23	4.15	3.25	0.37280	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58424	0.2121	L	0.51422	1.61	0.24712	N	0.993192	B;B;B	0.31256	0.316;0.237;0.146	B;B;B	0.41036	0.346;0.181;0.254	T	0.53563	-0.8421	9	0.37606	T	0.19	.	12.8103	0.57635	0.0:0.3147:0.6853:0.0	.	335;335;335	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	I	335	ENSP00000421030:V335I;ENSP00000304234:V335I	ENSP00000304234:V335I	V	+	1	0	PCDHA10	140216820	0.193000	0.23313	0.031000	0.17742	0.713000	0.41058	0.490000	0.22403	1.046000	0.40249	0.561000	0.74099	GTC		0.418	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		111	444	0	0	0	1	0	111	444				
STAT1	6772	broad.mit.edu	37	2	191840588	191840588	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191840588G>A	ENST00000361099.3	-	23	2472	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G695G|STAT1_ENST00000392323.2_Silent_p.G697G|STAT1_ENST00000392322.3_Silent_p.G695G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	695					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TTCCTTTAGGGCCATCAAGTT	0.423																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2083-2085)ggC>ggT		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						119.0	104.0	109.0					2																	191840588		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191840588G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.2085C>T	2.37:g.191840588G>A						STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G695G|STAT1_ENST00000392323.2_Silent_p.G697G|STAT1_ENST00000392322.3_Silent_p.G695G	p.G695G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		23	2472	-			695					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.2085C>T	CCDS2309.1																																																																																				0.423	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		50	162	0	0	0	1	0	50	162				
PPP1R3A	5506	broad.mit.edu	37	7	113519452	113519452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519452C>T	ENST00000284601.3	-	4	1763	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	565					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTCGCTCAGCAGAGTAGCCA	0.458																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1693-1695)ctG>ctA		protein phosphatase 1, regulatory subunit 3A							116.0	107.0	110.0					7																	113519452		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519452C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1695G>A	7.37:g.113519452C>T							p.L565L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1763	-			565					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1695G>A	CCDS5759.1																																																																																				0.458	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		69	409	0	0	0	1	0	69	409				
LACRT	90070	broad.mit.edu	37	12	55028594	55028594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55028594G>T	ENST00000257867.4	-	1	85	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	11					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCCTGCTACAGCTGCCAAGAA	0.527																																						ENST00000257867.4																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						c.(31-33)gCt>gAt		lacritin							121.0	115.0	117.0					12																	55028594		2203	4300	6503	SO:0001583	missense	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55028594G>T	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.32C>A	12.37:g.55028594G>T	ENSP00000257867:p.Ala11Asp					LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	p.A11D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN			1	85	-			11						Missense_Mutation	SNP	ENST00000257867.4	37	c.32C>A	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970247	0.18659	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	3.84	2.95	0.34219	.	0.000000	0.32488	N	0.006040	T	0.39253	0.1071	N	0.19112	0.55	0.19945	N	0.999946	D	0.89917	1.0	D	0.79108	0.992	T	0.06844	-1.0804	9	0.87932	D	0	.	7.4512	0.27240	0.118:0.0:0.882:0.0	.	11	Q9GZZ8	LACRT_HUMAN	D	11	.	ENSP00000257867:A11D	A	-	2	0	LACRT	53314861	0.078000	0.21339	0.548000	0.28192	0.021000	0.10359	0.255000	0.18333	1.219000	0.43474	0.563000	0.77884	GCT		0.527	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		62	321	1	0	8.77104e-35	1	1.04431e-34	62	321				
MUC17	140453	broad.mit.edu	37	7	100663468	100663468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100663468C>A	ENST00000306151.4	+	1	116	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	RP11-395B7.4_ENST00000441882.1_RNA|RP11-395B7.4_ENST00000448513.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	18					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCCTCTCGCTCTTGCCCCC	0.662																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(52-54)Ctc>Atc		mucin 17, cell surface associated							108.0	75.0	86.0					7																	100663468		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100663468C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.52C>A	7.37:g.100663468C>A	ENSP00000302716:p.Leu18Ile						p.L18I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			1	116	+	Lung NSC(181;0.136)|all_lung(186;0.182)		18					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.52C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411676	0.11812	.	.	ENSG00000169876	ENST00000306151	T	0.02837	4.14	2.12	2.12	0.27331	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.56216	0.794	T	0.49925	-0.8887	9	0.87932	D	0	.	7.7734	0.29021	0.0:1.0:0.0:0.0	.	18	Q685J3	MUC17_HUMAN	I	18	ENSP00000302716:L18I	ENSP00000302716:L18I	L	+	1	0	MUC17	100450188	0.000000	0.05858	0.075000	0.20258	0.003000	0.03518	-0.141000	0.10327	1.511000	0.48818	0.407000	0.27541	CTC		0.662	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		49	156	1	0	3.19069e-20	1	3.57165e-20	49	156				
KRTAP5-6	440023	broad.mit.edu	37	11	1718682	1718682	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718682C>A	ENST00000382160.1	+	1	258	c.207C>A	c.(205-207)ggC>ggA	p.G69G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	69	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCAAAGGGGGCTGTGGCTCTT	0.637																																						ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(205-207)ggC>ggA		keratin associated protein 5-6							82.0	104.0	97.0					11																	1718682		2202	4299	6501	SO:0001819	synonymous_variant	440023					keratin filament		g.chr11:1718682C>A	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.207C>A	11.37:g.1718682C>A							p.G69G	NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	258	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	69			6 X 4 AA repeats of C-C-X-P.		A1L452	Silent	SNP	ENST00000382160.1	37	c.207C>A	CCDS31332.1																																																																																				0.637	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			125	1156	1	0	1.01459e-35	1	1.21254e-35	125	1156				
ZNF672	79894	broad.mit.edu	37	1	249142057	249142057	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142057T>C	ENST00000306562.3	+	4	1330	c.584T>C	c.(583-585)gTc>gCc	p.V195A		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGACCCCGTGTCTCAGACGCC	0.697																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(583-585)gTc>gCc		zinc finger protein 672							9.0	10.0	9.0					1																	249142057		2198	4289	6487	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142057T>C	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.584T>C	1.37:g.249142057T>C	ENSP00000421915:p.Val195Ala						p.V195A	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1330	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	195					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.584T>C	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285914	0.01387	.	.	ENSG00000171161	ENST00000306562	T	0.06933	3.24	2.62	0.449	0.16619	.	1.677950	0.04259	N	0.340137	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40608	-0.9554	9	.	.	.	.	2.3387	0.04254	0.208:0.4964:0.1752:0.1205	.	195	Q499Z4	ZN672_HUMAN	A	195	ENSP00000421915:V195A	.	V	+	2	0	ZNF672	247108680	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-0.153000	0.11137	-1.096000	0.02151	GTC		0.697	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		13	51	0	0	0	1	0	13	51				
TRIM3	10612	broad.mit.edu	37	11	6479370	6479370	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479370G>A	ENST00000525074.1	-	3	682	c.288C>T	c.(286-288)gcC>gcT	p.A96A	TRIM3_ENST00000345851.3_Silent_p.A96A|TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000537602.1_Silent_p.A96A|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000529058.1_5'Flank	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	96					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGGTCGTGGGCCCCATCAG	0.652																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(286-288)gcC>gcT		tripartite motif containing 3							44.0	47.0	46.0					11																	6479370		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479370G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.288C>T	11.37:g.6479370G>A						TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000537602.1_Silent_p.A96A|TRIM3_ENST00000345851.3_Silent_p.A96A	p.A96A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	682	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	96					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.288C>T	CCDS7764.1																																																																																				0.652	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		72	364	0	0	0	1	0	72	364				
KIF17	57576	broad.mit.edu	37	1	21042020	21042020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21042020G>A	ENST00000247986.2	-	2	654	c.344C>T	c.(343-345)cCc>cTc	p.P115L	KIF17_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	115	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAAGGCCCTGGGGATGATGCC	0.652																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(343-345)cCc>cTc		kinesin family member 17							86.0	76.0	79.0					1																	21042020		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21042020G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.344C>T	1.37:g.21042020G>A	ENSP00000247986:p.Pro115Leu					KIF17_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L	p.P115L			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	2	654	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	115			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.344C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142515	0.94560	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.74947	-0.89;-0.89;-0.89	4.75	4.75	0.60458	Kinesin, motor domain (4);	0.000000	0.32401	U	0.006150	D	0.89234	0.6657	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91885	0.5519	10	0.87932	D	0	.	16.4866	0.84185	0.0:0.0:1.0:0.0	.	115;115	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	15;115;115	ENSP00000364184:P15L;ENSP00000383311:P115L;ENSP00000247986:P115L	ENSP00000247986:P115L	P	-	2	0	KIF17	20914607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.991000	0.93514	2.473000	0.83533	0.655000	0.94253	CCC		0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		50	401	0	0	0	1	0	50	401				
COL16A1	1307	broad.mit.edu	37	1	32138370	32138370	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32138370T>C	ENST00000373672.3	-	45	3447	c.2931A>G	c.(2929-2931)ggA>ggG	p.G977G	COL16A1_ENST00000271069.6_Silent_p.G977G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	977	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGCCCTGGTCTCCCTTCTCTC	0.652																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(2929-2931)ggA>ggG		collagen, type XVI, alpha 1							73.0	81.0	78.0					1																	32138370		1990	4161	6151	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32138370T>C	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2931A>G	1.37:g.32138370T>C						COL16A1_ENST00000271069.6_Silent_p.G977G	p.G977G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	45	3447	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	977			Triple-helical region 3 (COL3).		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.2931A>G	CCDS41297.1																																																																																				0.652	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		18	305	0	0	0	1	0	18	305				
IGDCC4	57722	broad.mit.edu	37	15	65688350	65688350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688350G>A	ENST00000352385.2	-	7	1358	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	383	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCCGCCCTGGACCTTGACGC	0.731																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1147-1149)gtC>gtT		immunoglobulin superfamily, DCC subclass, member 4							11.0	10.0	10.0					15																	65688350		2156	4238	6394	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65688350G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1149C>T	15.37:g.65688350G>A							p.V383V	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			7	1358	-			383			Ig-like C2-type 4.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.1149C>T	CCDS10206.1																																																																																				0.731	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		10	43	0	0	0	1	0	10	43				
PCDHA10	56139	broad.mit.edu	37	5	140237378	140237378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237378G>A	ENST00000307360.5	+	1	1745	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	582					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGGTCGGTGGTT	0.657																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1744-1746)cGg>cAg									76.0	71.0	73.0					5																	140237378		1322	2290	3612	SO:0001583	missense	0							g.chr5:140237378G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1745G>A	5.37:g.140237378G>A	ENSP00000304234:p.Arg582Gln					PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R582Q	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1745	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1745G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460291	0.12342	.	.	ENSG00000250120	ENST00000307360	T	0.37915	1.17	3.68	3.68	0.42216	Cadherin-like (1);	.	.	.	.	T	0.25901	0.0631	L	0.39467	1.215	0.09310	N	1	P;B	0.40266	0.71;0.373	B;B	0.31495	0.131;0.089	T	0.14200	-1.0481	9	0.54805	T	0.06	.	9.7713	0.40591	0.0966:0.0:0.9034:0.0	.	582;582	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	Q	582	ENSP00000304234:R582Q	ENSP00000304234:R582Q	R	+	2	0	PCDHA10	140217562	0.000000	0.05858	0.064000	0.19789	0.003000	0.03518	-0.028000	0.12350	2.041000	0.60428	0.491000	0.48974	CGG		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		85	319	0	0	0	1	0	85	319				
CLEC16A	23274	broad.mit.edu	37	16	11272254	11272254	+	Missense_Mutation	SNP	G	G	A	rs199811620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11272254G>A	ENST00000409790.1	+	24	3099	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AATCGTCAACGAAACGGAAGC	0.607																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2869-2871)Gaa>Aaa		C-type lectin domain family 16, member A		G	LYS/GLU	1,4321		0,1,2160	108.0	123.0	118.0		2869	4.5	0.0	16		118	2,8506		0,2,4252	yes	missense	CLEC16A	NM_015226.2	56	0,3,6412	AA,AG,GG		0.0235,0.0231,0.0234	probably-damaging	957/1054	11272254	3,12827	2161	4254	6415	SO:0001583	missense	23274							g.chr16:11272254G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2869G>A	16.37:g.11272254G>A	ENSP00000387122:p.Glu957Lys					CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	p.E957K	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			24	3099	+			957						Missense_Mutation	SNP	ENST00000409790.1	37	c.2869G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541002	0.45280	2.31E-4	2.35E-4	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.50813	0.73	4.49	4.49	0.54785	.	0.064355	0.64402	D	0.000014	T	0.61261	0.2333	L	0.46157	1.445	0.27050	N	0.963812	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.935	T	0.56360	-0.7992	10	0.62326	D	0.03	-4.7551	14.7192	0.69294	0.0:0.0:1.0:0.0	.	44;957	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	K	957;957;44	ENSP00000387122:E957K	ENSP00000371244:E44K	E	+	1	0	CLEC16A	11179755	1.000000	0.71417	0.044000	0.18714	0.002000	0.02628	6.109000	0.71528	2.215000	0.71742	0.655000	0.94253	GAA		0.607	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		164	714	0	0	0	1	0	164	714				
CDAN1	146059	broad.mit.edu	37	15	43027821	43027821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027821G>A	ENST00000356231.3	-	4	853	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	277					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGGAGGGGCGACCCCAATTC	0.577																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(829-831)tCg>tTg		codanin 1							37.0	41.0	40.0					15																	43027821		2199	4284	6483	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027821G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.830C>T	15.37:g.43027821G>A	ENSP00000348564:p.Ser277Leu						p.S277L	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	4	853	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	277					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.830C>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042707	0.19748	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87103	-2.21	5.68	2.26	0.28386	.	0.396178	0.30667	N	0.009131	T	0.68375	0.2994	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53099	-0.8486	10	0.21540	T	0.41	-0.9898	4.8896	0.13721	0.0897:0.148:0.6104:0.152	.	277	Q8IWY9	CDAN1_HUMAN	L	277;275	ENSP00000348564:S277L	ENSP00000267892:S275L	S	-	2	0	CDAN1	40815113	0.004000	0.15560	0.367000	0.25926	0.071000	0.16799	0.710000	0.25748	0.727000	0.32360	0.561000	0.74099	TCG		0.577	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		67	251	0	0	0	1	0	67	251				
PENK	5179	broad.mit.edu	37	8	57358278	57358278	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57358278G>A	ENST00000314922.3	-	1	215				PENK_ENST00000523051.1_Intron|PENK_ENST00000451791.2_Intron|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000518770.1_Missense_Mutation_p.R79W|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin						aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GGTGCGAACCGCCATACGCGC	0.667																																						ENST00000518770.1																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(235-237)Cgg>Tgg		proenkephalin																																				SO:0001627	intron_variant	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57358278G>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.138+96C>T	8.37:g.57358278G>A						PENK_ENST00000451791.2_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_Intron	p.R79W			P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		3	388	-		all_lung(136;0.229)	138					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.235C>T	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630725	0.46944	.	.	ENSG00000181195	ENST00000518770	.	.	.	4.27	-8.53	0.00916	.	.	.	.	.	T	0.23014	0.0556	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30621	-0.9972	7	0.87932	D	0	.	2.3807	0.04353	0.2601:0.3163:0.317:0.1066	.	79	E5RJ72	.	W	79	.	ENSP00000430592:R79W	R	-	1	2	PENK	57520832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.244000	0.08903	-2.075000	0.00876	-0.143000	0.13931	CGG		0.667	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			14	149	0	0	0	1	0	14	149				
LECT1	11061	broad.mit.edu	37	13	53282814	53282814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282814C>T	ENST00000377962.3	-	6	724	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	LECT1_ENST00000448904.2_Missense_Mutation_p.V216M			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	216					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTTCTTACCACTTCTCTTCTT	0.383																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(646-648)Gtg>Atg		leukocyte cell derived chemotaxin 1							163.0	154.0	157.0					13																	53282814		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282814C>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.646G>A	13.37:g.53282814C>T	ENSP00000367198:p.Val216Met					LECT1_ENST00000377962.3_Missense_Mutation_p.V216M	p.V216M	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	756	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	216					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.646G>A	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465972	0.26335	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.30448	1.53;1.53	5.06	2.1	0.27182	.	0.620299	0.17456	N	0.173615	T	0.12475	0.0303	N	0.08118	0	0.20196	N	0.999925	B;B	0.14012	0.004;0.009	B;B	0.08055	0.003;0.002	T	0.14783	-1.0460	10	0.42905	T	0.14	.	2.1607	0.03824	0.1872:0.4807:0.1188:0.2133	.	216;216	O75829-2;O75829	.;LECT1_HUMAN	M	216	ENSP00000388576:V216M;ENSP00000367198:V216M	ENSP00000367198:V216M	V	-	1	0	LECT1	52180815	0.013000	0.17824	0.943000	0.38184	0.997000	0.91878	-0.300000	0.08243	0.545000	0.28902	0.555000	0.69702	GTG		0.383	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			74	523	0	0	0	1	0	74	523				
MYOZ2	51778	broad.mit.edu	37	4	120079184	120079184	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120079184T>G	ENST00000307128.5	+	4	467	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAGCACAGTATTGCTATGCAG	0.408																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(253-255)aTt>aGt		myozenin 2							117.0	115.0	116.0					4																	120079184		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120079184T>G	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.254T>G	4.37:g.120079184T>G	ENSP00000306997:p.Ile85Ser						p.I85S	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			4	467	+			85						Missense_Mutation	SNP	ENST00000307128.5	37	c.254T>G	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	T	3.262	-0.150916	0.06585	.	.	ENSG00000172399	ENST00000307128	T	0.64438	-0.1	5.7	4.45	0.53987	.	1.093690	0.06764	N	0.782303	T	0.45836	0.1362	L	0.34521	1.04	0.09310	N	1	P	0.35872	0.525	B	0.31101	0.124	T	0.29912	-0.9996	10	0.09590	T	0.72	-2.3569	7.3584	0.26731	0.171:0.0:0.1213:0.7076	.	85	Q9NPC6	MYOZ2_HUMAN	S	85	ENSP00000306997:I85S	ENSP00000306997:I85S	I	+	2	0	MYOZ2	120298632	0.062000	0.20869	0.710000	0.30468	0.918000	0.54935	2.156000	0.42310	2.163000	0.67991	0.533000	0.62120	ATT		0.408	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			84	411	0	0	0	1	0	84	411				
CACNA1D	776	broad.mit.edu	37	3	53529248	53529248	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53529248G>A	ENST00000350061.5	+	1	566	c.55G>A	c.(55-57)Gac>Aac	p.D19N	CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N|CACNA1D_ENST00000288139.4_Missense_Mutation_p.D19N	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	19					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCAAGCGGACCACGCGAA	0.587																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(55-57)Gac>Aac		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						76.0	79.0	78.0					3																	53529248		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529248G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.55G>A	3.37:g.53529248G>A	ENSP00000288133:p.Asp19Asn					CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N|CACNA1D_ENST00000350061.5_Missense_Mutation_p.D19N	p.D19N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	1	173	+			19					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.55G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014042	0.75161	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.95853	-3.81;-3.83;-3.83	4.12	4.12	0.48240	.	.	.	.	.	D	0.89684	0.6786	N	0.22421	0.69	0.80722	D	1	B;B;B	0.30889	0.198;0.198;0.299	B;B;B	0.23574	0.021;0.021;0.047	D	0.87873	0.2672	9	0.35671	T	0.21	.	12.0575	0.53544	0.0:0.0:1.0:0.0	.	19;19;19	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	N	19	ENSP00000288133:D19N;ENSP00000288139:D19N;ENSP00000409174:D19N	ENSP00000288139:D19N	D	+	1	0	CACNA1D	53504288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.692000	0.47018	2.286000	0.76751	0.555000	0.69702	GAC		0.587	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		26	558	0	0	0	1	0	26	558				
IER5L	389792	broad.mit.edu	37	9	131940297	131940297	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131940297C>A	ENST00000372491.2	-	1	243	c.35G>T	c.(34-36)aGc>aTc	p.S12I	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	12													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAGGGAGATGCTGATCAGGCT	0.667																																						ENST00000372491.2																			0											c.(34-36)aGc>aTc		immediate early response 5-like							19.0	23.0	22.0					9																	131940297		2164	4285	6449	SO:0001583	missense	389792							g.chr9:131940297C>A	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.35G>T	9.37:g.131940297C>A	ENSP00000361569:p.Ser12Ile					RP11-247A12.2_ENST00000372490.3_RNA	p.S12I	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	1	243	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	12					Q6P3E2	Missense_Mutation	SNP	ENST00000372491.2	37	c.35G>T	CCDS43888.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103186	0.56183	.	.	ENSG00000188483	ENST00000372491	T	0.18016	2.24	3.73	1.72	0.24424	.	0.224820	0.36101	U	0.002792	T	0.13286	0.0322	L	0.32530	0.975	0.30159	N	0.802383	P	0.45634	0.863	B	0.43783	0.431	T	0.06844	-1.0804	10	0.87932	D	0	-12.8614	6.8164	0.23833	0.0:0.6869:0.1959:0.1172	.	12	Q5T953	IER5L_HUMAN	I	12	ENSP00000361569:S12I	ENSP00000361569:S12I	S	-	2	0	IER5L	130980118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.473000	0.53122	0.779000	0.33543	0.298000	0.19748	AGC		0.667	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			13	46	1	0	1.05317e-09	1	1.11087e-09	13	46				
LRCH1	23143	broad.mit.edu	37	13	47297373	47297373	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47297373A>C	ENST00000389798.3	+	16	1869	c.1672A>C	c.(1672-1674)Aga>Cga	p.R558R	LRCH1_ENST00000311191.6_Silent_p.R558R|LRCH1_ENST00000389797.3_Silent_p.R593R	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	558										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAGACCTCAGAGAAATTTGGA	0.383																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1672-1674)Aga>Cga		leucine-rich repeats and calponin homology (CH) domain containing 1							82.0	85.0	84.0					13																	47297373		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47297373A>C	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1672A>C	13.37:g.47297373A>C						LRCH1_ENST00000389797.3_Silent_p.R593R|LRCH1_ENST00000389798.3_Silent_p.R558R	p.R558R	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	16	1901	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	558					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.1672A>C	CCDS31972.1																																																																																				0.383	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		33	237	0	0	0	1	0	33	237				
SLC7A9	11136	broad.mit.edu	37	19	33355629	33355629	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355629C>T	ENST00000023064.4	-	3	332	c.141G>A	c.(139-141)ggG>ggA	p.G47G	SLC7A9_ENST00000590341.1_Silent_p.G47G|SLC7A9_ENST00000587772.1_Silent_p.G47G|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	47					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AAACGAAGATCCCAGAGCCAA	0.617																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(139-141)ggG>ggA		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						170.0	155.0	160.0					19																	33355629		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355629C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.141G>A	19.37:g.33355629C>T						SLC7A9_ENST00000590341.1_Silent_p.G47G|SLC7A9_ENST00000587772.1_Silent_p.G47G	p.G47G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			3	332	-	Esophageal squamous(110;0.137)		47					B2R9A6	Silent	SNP	ENST00000023064.4	37	c.141G>A	CCDS12425.1																																																																																				0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			169	779	0	0	0	1	0	169	779				
FAM102A	399665	broad.mit.edu	37	9	130707059	130707059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130707059C>T	ENST00000373095.1	-	9	1411	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	346										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGCTCACCCTCGGTGTTGCTG	0.662																																						ENST00000373095.1																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(1036-1038)Gag>Aag		family with sequence similarity 102, member A							75.0	54.0	61.0					9																	130707059		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130707059C>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.1036G>A	9.37:g.130707059C>T	ENSP00000362187:p.Glu346Lys					FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K	p.E346K	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN			9	1411	-			346					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.1036G>A	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054004	0.93793	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	.	0.097969	0.64402	D	0.000001	T	0.70859	0.3272	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.72304	-0.4333	10	0.62326	D	0.03	.	18.7228	0.91702	0.0:1.0:0.0:0.0	.	346	Q5T9C2	F102A_HUMAN	K	346;204	ENSP00000362187:E346K;ENSP00000362176:E204K	ENSP00000362176:E204K	E	-	1	0	FAM102A	129746880	1.000000	0.71417	0.979000	0.43373	0.381000	0.30169	7.523000	0.81856	2.764000	0.94973	0.563000	0.77884	GAG		0.662	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			26	141	0	0	0	1	0	26	141				
KLHL30	377007	broad.mit.edu	37	2	239059487	239059487	+	Silent	SNP	C	C	T	rs545573277	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239059487C>T	ENST00000409223.1	+	8	1625	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	KLHL30_ENST00000305959.4_Silent_p.G488G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	506										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATGAGAATGGCGCGCTGGTGC	0.662													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16906	0.0		0.0	False		,,,				2504	0.0					ENST00000409223.1																			0				lung(4)	4						c.(1516-1518)ggC>ggT		kelch-like family member 30							18.0	24.0	22.0					2																	239059487		2181	4265	6446	SO:0001819	synonymous_variant	377007							g.chr2:239059487C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1518C>T	2.37:g.239059487C>T						KLHL30_ENST00000305959.4_Silent_p.G488G	p.G506G			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	8	1625	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	506					Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.1518C>T	CCDS46555.2																																																																																				0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		18	36	0	0	0	1	0	18	36				
KCNJ8	3764	broad.mit.edu	37	12	21926289	21926289	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21926289C>T	ENST00000240662.2	-	2	607	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	88					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CACATGATAGCGAAGAGCAGC	0.517											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(262-264)Gct>Act		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						137.0	114.0	122.0					12																	21926289		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21926289C>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.262G>A	12.37:g.21926289C>T	ENSP00000240662:p.Ala88Thr		OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.A88T	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			2	607	-			88					O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.262G>A	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153019	0.94645	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.94576	-3.46;-3.46	4.44	4.44	0.53790	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97436	0.9161	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98397	1.0566	10	0.87932	D	0	.	17.2713	0.87103	0.0:1.0:0.0:0.0	.	88	Q15842	IRK8_HUMAN	T	88	ENSP00000240662:A88T;ENSP00000440012:A88T	ENSP00000240662:A88T	A	-	1	0	KCNJ8	21817556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.303000	0.77524	0.467000	0.42956	GCT		0.517	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		78	413	0	0	0	1	0	78	413				
MTNR1A	4543	broad.mit.edu	37	4	187454932	187454932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187454932C>T	ENST00000307161.5	-	2	1165	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	322					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TTAGAGCTGTCCACAAAGAAC	0.448																																						ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(964-966)Gac>Aac		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						139.0	136.0	137.0					4																	187454932		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187454932C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.964G>A	4.37:g.187454932C>T	ENSP00000302811:p.Asp322Asn					RP11-215A19.2_ENST00000509111.1_Intron	p.D322N	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	1165	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	322					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.964G>A	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536802	0.27475	.	.	ENSG00000168412	ENST00000307161	T	0.71817	-0.6	4.66	3.7	0.42460	.	0.265700	0.42172	D	0.000753	T	0.67832	0.2935	M	0.63428	1.95	0.40875	D	0.983943	B	0.15141	0.012	B	0.14023	0.01	T	0.65845	-0.6069	10	0.41790	T	0.15	-3.7703	14.9647	0.71182	0.0:0.8057:0.1943:0.0	.	322	P48039	MTR1A_HUMAN	N	322	ENSP00000302811:D322N	ENSP00000302811:D322N	D	-	1	0	MTNR1A	187691926	1.000000	0.71417	0.937000	0.37676	0.114000	0.19823	4.341000	0.59335	0.990000	0.38787	0.655000	0.94253	GAC		0.448	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			137	520	0	0	0	1	0	137	520				
NCAPG2	54892	broad.mit.edu	37	7	158448052	158448052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158448052C>T	ENST00000409423.1	-	21	2656	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	NCAPG2_ENST00000409339.3_Silent_p.L828L|NCAPG2_ENST00000449727.2_Silent_p.L828L|NCAPG2_ENST00000275830.10_Silent_p.L620L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000541468.1_Silent_p.L329L	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	828					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GATGGATGCTCAGGCGACAGT	0.522																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2482-2484)ctG>ctA		non-SMC condensin II complex, subunit G2							142.0	158.0	152.0					7																	158448052		2081	4216	6297	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158448052C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2484G>A	7.37:g.158448052C>T						NCAPG2_ENST00000409423.1_Silent_p.L828L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000449727.2_Silent_p.L828L|NCAPG2_ENST00000541468.1_Silent_p.L329L|NCAPG2_ENST00000275830.10_Silent_p.L620L	p.L828L			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	20	2597	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	828					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.2484G>A	CCDS43686.1																																																																																				0.522	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		170	884	0	0	0	1	0	170	884				
PPP1R13L	10848	broad.mit.edu	37	19	45888926	45888926	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45888926C>T	ENST00000418234.2	-	11	2220	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	714					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGCGCCGTGCTGCACCAGCG	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2140-2142)caG>caA		protein phosphatase 1, regulatory subunit 13 like							55.0	46.0	49.0					19																	45888926		2201	4298	6499	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45888926C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2142G>A	19.37:g.45888926C>T						PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	p.Q714Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	11	2220	-		all_neural(266;0.224)|Ovarian(192;0.231)	714					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2142G>A	CCDS33050.1																																																																																				0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		40	211	0	0	0	1	0	40	211				
GABRG1	2565	broad.mit.edu	37	4	46060235	46060235	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46060235C>T	ENST00000295452.4	-	7	1082	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	305					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGTCATACCCAACGATGTTC	0.318																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.e7+1		gamma-aminobutyric acid (GABA) A receptor, gamma 1							81.0	79.0	79.0					4																	46060235		2203	4300	6503	SO:0001630	splice_region_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060235C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.916+1G>A	4.37:g.46060235C>T							p.L305_splice	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	1082	-			305					Q5H9T8	Splice_Site	SNP	ENST00000295452.4	37	c.916_splice	CCDS3470.1																																																																																				0.318	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	Silent	45	233	0	0	0	1	0	45	233				
DNAH9	1770	broad.mit.edu	37	17	11684429	11684429	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11684429G>T	ENST00000262442.4	+	39	7724	c.7656G>T	c.(7654-7656)gtG>gtT	p.V2552V	DNAH9_ENST00000454412.2_Silent_p.V2552V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2552	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCTGAGGTGGATGCCTACG	0.552																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7654-7656)gtG>gtT		dynein, axonemal, heavy chain 9							68.0	56.0	60.0					17																	11684429		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11684429G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7656G>T	17.37:g.11684429G>T						DNAH9_ENST00000454412.2_Silent_p.V2552V	p.V2552V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	39	7724	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2552			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7656G>T	CCDS11160.1																																																																																				0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		30	176	1	0	1.38854e-25	1	1.59452e-25	30	176				
FASTKD3	79072	broad.mit.edu	37	5	7867410	7867410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867410A>C	ENST00000264669.5	-	2	923	c.787T>G	c.(787-789)Ttg>Gtg	p.L263V	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	263					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATGCCTGCAAGATTCTATAA	0.353																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(787-789)Ttg>Gtg		FAST kinase domains 3							80.0	88.0	85.0					5																	7867410		2201	4300	6501	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867410A>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.787T>G	5.37:g.7867410A>C	ENSP00000264669:p.Leu263Val					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.L263V	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	923	-			263					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.787T>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810045	0.50421	.	.	ENSG00000124279	ENST00000264669	T	0.38401	1.14	4.85	-0.21	0.13176	.	0.075761	0.53938	D	0.000053	T	0.45637	0.1352	M	0.76002	2.32	0.33263	D	0.560042	D	0.63880	0.993	P	0.53401	0.725	T	0.58989	-0.7538	10	0.54805	T	0.06	-6.9548	9.9157	0.41432	0.5983:0.0:0.4017:0.0	.	263	Q14CZ7	FAKD3_HUMAN	V	263	ENSP00000264669:L263V	ENSP00000264669:L263V	L	-	1	2	FASTKD3	7920410	0.589000	0.26807	0.029000	0.17559	0.975000	0.68041	0.854000	0.27791	-0.258000	0.09446	0.528000	0.53228	TTG		0.353	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		9	525	0	0	0	1	0	9	525				
HADHB	3032	broad.mit.edu	37	2	26501526	26501526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501526G>A	ENST00000317799.5	+	8	591	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.G148S	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	163					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGTGGCAGGTGGTGTTGA	0.433																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.(487-489)Ggt>Agt		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							237.0	224.0	228.0					2																	26501526		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26501526G>A		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.487G>A	2.37:g.26501526G>A	ENSP00000325136:p.Gly163Ser					HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Missense_Mutation_p.G148S|HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000494615.1_3'UTR	p.G163S	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			8	591	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		163					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.487G>A	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465686	0.96257	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822;ENST00000425035	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.44	5.44	0.79542	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.98302	1.0519	9	.	.	.	-19.9874	18.186	0.89793	0.0:0.0:1.0:0.0	.	148;141;163	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	S	163;148;141;163	ENSP00000325136:G163S;ENSP00000444295:G148S;ENSP00000442665:G141S;ENSP00000404633:G163S	.	G	+	1	0	HADHB	26355030	1.000000	0.71417	0.995000	0.50966	0.704000	0.40688	9.759000	0.98931	2.708000	0.92522	0.650000	0.86243	GGT		0.433	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		51	444	0	0	0	1	0	51	444				
BCL2L13	23786	broad.mit.edu	37	22	18171769	18171769	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18171769T>G	ENST00000317582.5	+	4	594	c.247T>G	c.(247-249)Ttt>Gtt	p.F83V	BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000355028.3_Missense_Mutation_p.F83V|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	83					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CAGCACAGGCTTTGACCGTCA	0.443																																						ENST00000355028.3																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15						c.(247-249)Ttt>Gtt		BCL2-like 13 (apoptosis facilitator)							91.0	88.0	89.0					22																	18171769		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18171769T>G	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.247T>G	22.37:g.18171769T>G	ENSP00000318883:p.Phe83Val					BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000317582.5_Missense_Mutation_p.F83V	p.F83V	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	4	373	+		all_epithelial(15;0.123)	83					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.247T>G	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515006	0.85389	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.83275	0.937;0.996;0.937	T	0.01617	-1.1311	10	0.62326	D	0.03	-18.3954	15.7532	0.78005	0.0:0.0:0.0:1.0	.	83;83;83	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	V	83	ENSP00000382682:F83V;ENSP00000318883:F83V;ENSP00000434764:F83V;ENSP00000347133:F83V	ENSP00000318883:F83V	F	+	1	0	BCL2L13	16551769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.200000	0.77838	2.117000	0.64856	0.460000	0.39030	TTT		0.443	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		104	419	0	0	0	1	0	104	419				
OR5B3	441608	broad.mit.edu	37	11	58170524	58170524	+	Missense_Mutation	SNP	C	C	T	rs546163469	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170524C>T	ENST00000309403.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R120L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.468													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22807	0.0		0.0	False		,,,				2504	0.0					ENST00000309403.2																			1	Substitution - Missense(1)	p.R120L(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(358-360)cGc>cAc		olfactory receptor, family 5, subfamily B, member 3							131.0	117.0	122.0					11																	58170524		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170524C>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.359G>A	11.37:g.58170524C>T	ENSP00000308270:p.Arg120His						p.R120H	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	358	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	120					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.359G>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547375	0.45383	.	.	ENSG00000172769	ENST00000309403	T	0.77489	-1.1	3.96	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.136459	0.34156	N	0.004202	T	0.77485	0.4137	M	0.85630	2.765	0.35002	D	0.756051	P	0.50369	0.934	B	0.40602	0.334	D	0.84664	0.0708	10	0.66056	D	0.02	-27.9791	10.5958	0.45336	0.0:0.9022:0.0:0.0978	.	120	Q8NH48	OR5B3_HUMAN	H	120	ENSP00000308270:R120H	ENSP00000308270:R120H	R	-	2	0	OR5B3	57927100	0.985000	0.35326	0.999000	0.59377	0.517000	0.34286	2.456000	0.44997	1.023000	0.39654	-0.237000	0.12165	CGC		0.468	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		91	450	0	0	0	1	0	91	450				
RHBDF1	64285	broad.mit.edu	37	16	108725	108725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:108725C>T	ENST00000262316.6	-	18	2324	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	728					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAGAGGCAGGCCAGGATGCCG	0.647																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2182-2184)Gcc>Acc		rhomboid 5 homolog 1 (Drosophila)							20.0	24.0	23.0					16																	108725		2202	4299	6501	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108725C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2182G>A	16.37:g.108725C>T	ENSP00000262316:p.Ala728Thr						p.A728T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			18	2324	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	728					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.2182G>A	CCDS32344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	30|30	5.049882|5.049882	0.93740|0.93740	.|.	.|.	ENSG00000007384|ENSG00000007384	ENST00000262316|ENST00000448893	T|.	0.12984|.	2.63|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Peptidase S54, rhomboid domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84960|.	0.5588|.	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.87865|.	0.2667|.	10|.	0.87932|.	D|.	0|.	-34.8431|-34.8431	17.997|17.997	0.89187|0.89187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	728|.	Q96CC6|.	RHDF1_HUMAN|.	T|X	728|104	ENSP00000262316:A728T|.	ENSP00000262316:A728T|.	A|W	-|-	1|3	0|0	RHBDF1|RHBDF1	48725|48725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.945000|5.945000	0.70226|0.70226	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.647	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		16	151	0	0	0	1	0	16	151				
ABCA2	20	broad.mit.edu	37	9	139904272	139904272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139904272C>T	ENST00000371605.3	-	42	6723	c.6576G>A	c.(6574-6576)cgG>cgA	p.R2192R	ABCA2_ENST00000265662.5_Silent_p.R2193R|ABCA2_ENST00000341511.6_Silent_p.R2193R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2192	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGAGAGCTTCCGCTTGTTGC	0.632																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6577-6579)cgG>cgA		ATP-binding cassette, sub-family A (ABC1), member 2							45.0	55.0	52.0					9																	139904272		2189	4291	6480	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904272C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6576G>A	9.37:g.139904272C>T						ABCA2_ENST00000341511.6_Silent_p.R2193R|ABCA2_ENST00000371605.3_Silent_p.R2192R	p.R2193R			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	43	6726	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2192			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.6579G>A																																																																																					0.632	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		30	130	0	0	0	1	0	30	130				
TRAK1	22906	broad.mit.edu	37	3	42167076	42167076	+	Missense_Mutation	SNP	G	G	A	rs368818504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42167076G>A	ENST00000327628.5	+	2	656	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	86	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTCACAACCGAGCAAATTGA	0.448																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(256-258)Gag>Aag		trafficking protein, kinesin binding 1		G	LYS/GLU	1,3909		0,1,1954	135.0	126.0	129.0		256	5.7	1.0	3		129	0,8286		0,0,4143	no	missense	TRAK1	NM_001042646.1	56	0,1,6097	AA,AG,GG		0.0,0.0256,0.0082	probably-damaging	86/954	42167076	1,12195	1955	4143	6098	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167076G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.256G>A	3.37:g.42167076G>A	ENSP00000328998:p.Glu86Lys					TRAK1_ENST00000487159.1_3'UTR	p.E86K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			2	656	+			86			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.256G>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246109	0.95272	2.56E-4	0.0	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.18338	2.22	5.73	5.73	0.89815	.	0.135083	0.47455	D	0.000222	T	0.40398	0.1115	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.01925	-1.1246	10	0.24483	T	0.36	.	18.8873	0.92383	0.0:0.0:1.0:0.0	.	86;86	B7Z347;Q9UPV9	.;TRAK1_HUMAN	K	86	ENSP00000328998:E86K	ENSP00000328998:E86K	E	+	1	0	TRAK1	42142080	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	9.869000	0.99810	2.708000	0.92522	0.655000	0.94253	GAG		0.448	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		17	564	0	0	0	1	0	17	564				
ZKSCAN5	23660	broad.mit.edu	37	7	99123455	99123455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99123455T>C	ENST00000394170.2	+	6	1043	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ZKSCAN5_ENST00000326775.5_Silent_p.N264N|ZKSCAN5_ENST00000451158.1_Silent_p.N264N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	264	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|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)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAGGGACAATATGGAGCTCA	0.423																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(790-792)aaT>aaC		zinc finger with KRAB and SCAN domains 5							91.0	95.0	93.0					7																	99123455		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123455T>C	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.792T>C	7.37:g.99123455T>C						ZKSCAN5_ENST00000326775.5_Silent_p.N264N|ZKSCAN5_ENST00000451158.1_Silent_p.N264N	p.N264N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			6	1043	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		264			KRAB.		A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.792T>C	CCDS5667.1																																																																																				0.423	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		125	478	0	0	0	1	0	125	478				
SEC22B	9554	broad.mit.edu	37	1	145103941	145103941	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145103941G>A	ENST00000453618.1	+	0	436							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TCAGAGTCAGGCTAAGTAACT	0.403																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							84.0	77.0	79.0					1																	145103941		1938	4146	6084			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103941G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103941G>A										O75396	SC22B_HUMAN			0	436	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.403	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		6	88	0	0	0	1	0	6	88				
FAM186B	84070	broad.mit.edu	37	12	49993797	49993797	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49993797C>A	ENST00000257894.2	-	4	1787	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	FAM186B_ENST00000544141.1_Missense_Mutation_p.E452D|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	542						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGTGGGCTCTCCTGCTCCT	0.587																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1354-1356)gaG>gaT		family with sequence similarity 186, member B							83.0	78.0	80.0					12																	49993797		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49993797C>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1626G>T	12.37:g.49993797C>A	ENSP00000257894:p.Glu542Asp					FAM186B_ENST00000257894.2_Missense_Mutation_p.E542D|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron	p.E452D			Q8IYM0	F186B_HUMAN			4	1955	-			542					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.1356G>T	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706919	0.30232	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.12361	2.69;2.69;2.89	5.1	2.24	0.28232	.	1.912250	0.02624	N	0.103495	T	0.10852	0.0265	N	0.22421	0.69	0.09310	N	1	B;B	0.32160	0.358;0.187	B;B	0.32762	0.152;0.106	T	0.29181	-1.0020	9	.	.	.	-0.2479	5.739	0.18083	0.0:0.6614:0.1595:0.1791	.	452;542	B4DZ15;Q8IYM0	.;F186B_HUMAN	D	452;155;542	ENSP00000438569:E452D;ENSP00000436995:E155D;ENSP00000257894:E542D	.	E	-	3	2	FAM186B	48280064	0.001000	0.12720	0.000000	0.03702	0.441000	0.31987	0.996000	0.29719	0.252000	0.21531	0.563000	0.77884	GAG		0.587	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		78	330	1	0	3.76054e-38	1	4.5284e-38	78	330				
HSPB8	26353	broad.mit.edu	37	12	119631653	119631653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119631653C>T	ENST00000281938.2	+	3	1252	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	194					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGAAGTCACCTGTACCTGA	0.507																																						ENST00000281938.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14						c.(580-582)aCc>aTc		heat shock 22kDa protein 8							90.0	84.0	86.0					12																	119631653		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119631653C>T	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.581C>T	12.37:g.119631653C>T	ENSP00000281938:p.Thr194Ile						p.T194I	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN			3	1252	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		194					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.581C>T	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099369	0.56183	.	.	ENSG00000152137	ENST00000281938	D	0.87571	-2.27	4.29	4.29	0.51040	.	0.430101	0.24933	N	0.034450	T	0.80929	0.4718	N	0.24115	0.695	0.35132	D	0.768082	D	0.60160	0.987	P	0.47118	0.538	D	0.83617	0.0137	9	.	.	.	.	11.9741	0.53081	0.0:0.8241:0.1759:0.0	.	194	Q9UJY1	HSPB8_HUMAN	I	194	ENSP00000281938:T194I	.	T	+	2	0	HSPB8	118116036	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.887000	0.48586	2.396000	0.81511	0.561000	0.74099	ACC		0.507	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		67	278	0	0	0	1	0	67	278				
FYCO1	79443	broad.mit.edu	37	3	46009762	46009762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46009762C>T	ENST00000296137.2	-	8	1269	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	355					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGTGAGTCCCGTGTGGCCTC	0.602																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1063-1065)cGg>cAg		FYVE and coiled-coil domain containing 1							78.0	80.0	80.0					3																	46009762		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009762C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1064G>A	3.37:g.46009762C>T	ENSP00000296137:p.Arg355Gln					FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	p.R355Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1269	-			355					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1064G>A	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	6.474	0.455606	0.12283	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.22539	1.97;1.95	5.66	1.48	0.22813	.	0.449418	0.23916	N	0.043297	T	0.18551	0.0445	M	0.63843	1.955	0.09310	N	1	D;D	0.57257	0.979;0.979	B;B	0.42112	0.376;0.333	T	0.23619	-1.0183	10	0.19147	T	0.46	-19.4947	8.2526	0.31735	0.0:0.6544:0.0:0.3456	.	355;355	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	Q	355	ENSP00000296137:R355Q;ENSP00000441178:R355Q	ENSP00000296137:R355Q	R	-	2	0	FYCO1	45984766	0.000000	0.05858	0.017000	0.16124	0.071000	0.16799	-1.523000	0.02235	-0.020000	0.14032	0.655000	0.94253	CGG		0.602	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		148	589	0	0	0	1	0	148	589				
RGS17	26575	broad.mit.edu	37	6	153365061	153365061	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153365061A>C	ENST00000367225.2	-	1	117	c.93T>G	c.(91-93)tgT>tgG	p.C31W	RGS17_ENST00000206262.1_Missense_Mutation_p.C31W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	31	Poly-Cys.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AACAGCACCAACAAAAGCAAC	0.507																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	ENST00000367225.2																			0				cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(91-93)tgT>tgG		regulator of G-protein signaling 17							167.0	159.0	162.0					6																	153365061		2203	4300	6503	SO:0001583	missense	26575				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153365061A>C	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.93T>G	6.37:g.153365061A>C	ENSP00000356194:p.Cys31Trp					RGS17_ENST00000206262.1_Missense_Mutation_p.C31W	p.C31W			Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	1	117	-		Ovarian(120;0.126)	31			Poly-Cys.		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	c.93T>G	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747915	0.30955	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.55052	0.54;0.54	5.29	0.471	0.16752	.	0.451574	0.30510	N	0.009476	T	0.59348	0.2187	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.61603	-0.7029	10	0.45353	T	0.12	-13.2255	9.7424	0.40427	0.5062:0.0:0.4938:0.0	.	31	Q9UGC6	RGS17_HUMAN	W	31	ENSP00000356194:C31W;ENSP00000206262:C31W	ENSP00000206262:C31W	C	-	3	2	RGS17	153406754	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.100000	0.31025	-0.022000	0.13986	0.377000	0.23210	TGT		0.507	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			122	591	0	0	0	1	0	122	591				
RINT1	60561	broad.mit.edu	37	7	105190563	105190563	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105190563A>C	ENST00000257700.2	+	8	1289	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	353	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTCTGGATGAGAAGATTCAG	0.378																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1057-1059)gAg>gCg		RAD50 interactor 1							122.0	123.0	123.0					7																	105190563		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190563A>C	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1058A>C	7.37:g.105190563A>C	ENSP00000257700:p.Glu353Ala						p.E353A	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			8	1289	+			353			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1058A>C	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402508	0.62288	.	.	ENSG00000135249	ENST00000257700	T	0.33865	1.39	5.5	5.5	0.81552	.	0.046124	0.85682	D	0.000000	T	0.28797	0.0714	L	0.44542	1.39	0.80722	D	1	P	0.39576	0.679	B	0.34452	0.183	T	0.06588	-1.0818	10	0.13108	T	0.6	-20.0302	15.8976	0.79346	1.0:0.0:0.0:0.0	.	353	Q6NUQ1	RINT1_HUMAN	A	353	ENSP00000257700:E353A	ENSP00000257700:E353A	E	+	2	0	RINT1	104977799	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.706000	0.91362	2.212000	0.71576	0.528000	0.53228	GAG		0.378	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		55	286	0	0	0	1	0	55	286				
CDH4	1002	broad.mit.edu	37	20	60504709	60504709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504709C>T	ENST00000360469.5	+	13	2136	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	683	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACCTGGAGGCCGGGATGTAT	0.542																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2047-2049)gCc>gTc		cadherin 4, type 1, R-cadherin (retinal)							139.0	104.0	116.0					20																	60504709		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504709C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2048C>T	20.37:g.60504709C>T	ENSP00000353656:p.Ala683Val					CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	p.A683V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2136	+			683			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2048C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511956	0.27036	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60299	0.2;0.2	4.14	4.14	0.48551	Cadherin (3);Cadherin-like (1);	0.060746	0.64402	D	0.000004	T	0.42810	0.1219	L	0.45051	1.395	0.41343	D	0.987315	P	0.38582	0.638	B	0.28385	0.089	T	0.42050	-0.9474	9	.	.	.	.	11.6549	0.51313	0.1776:0.8224:0.0:0.0	.	683	P55283	CADH4_HUMAN	V	683;591;609	ENSP00000353656:A683V;ENSP00000443301:A609V	.	A	+	2	0	CDH4	59938104	0.197000	0.23362	0.863000	0.33907	0.943000	0.58893	2.334000	0.43920	1.855000	0.53841	0.561000	0.74099	GCC		0.542	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		27	394	0	0	0	1	0	27	394				
CDH9	1007	broad.mit.edu	37	5	26902639	26902639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26902639C>T	ENST00000231021.4	-	7	1371	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCAATGATACTGCCCTCCTT	0.338																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1198-1200)aGt>aAt		cadherin 9, type 2 (T1-cadherin)							126.0	118.0	121.0					5																	26902639		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902639C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1199G>A	5.37:g.26902639C>T	ENSP00000231021:p.Ser400Asn						p.S400N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			7	1371	-			400			Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1199G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017195	0.54576	.	.	ENSG00000113100	ENST00000231021	T	0.53206	0.63	5.62	5.62	0.85841	Cadherin (3);Cadherin-like (1);	0.192760	0.53938	D	0.000042	T	0.47192	0.1432	M	0.69248	2.105	0.40218	D	0.977705	B	0.14438	0.01	B	0.26614	0.071	T	0.40346	-0.9568	9	.	.	.	.	11.6748	0.51424	0.0:0.9184:0.0:0.0816	.	400	Q9ULB4	CADH9_HUMAN	N	400	ENSP00000231021:S400N	.	S	-	2	0	CDH9	26938396	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	0.592000	0.23984	2.648000	0.89879	0.650000	0.86243	AGT		0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		31	390	0	0	0	1	0	31	390				
SAMD9L	219285	broad.mit.edu	37	7	92762927	92762927	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762927G>T	ENST00000318238.4	-	5	3574	c.2358C>A	c.(2356-2358)acC>acA	p.T786T	SAMD9L_ENST00000437805.1_Silent_p.T786T|SAMD9L_ENST00000411955.1_Silent_p.T786T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	786					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCCTATAGGTGACCAGAT	0.378																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2356-2358)acC>acA		sterile alpha motif domain containing 9-like							123.0	120.0	121.0					7																	92762927		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92762927G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2358C>A	7.37:g.92762927G>T						SAMD9L_ENST00000437805.1_Silent_p.T786T|SAMD9L_ENST00000411955.1_Silent_p.T786T	p.T786T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3574	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		786					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2358C>A	CCDS34681.1																																																																																				0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		117	545	1	0	3.44186e-60	1	4.32629e-60	117	545				
TRAIP	10293	broad.mit.edu	37	3	49885589	49885589	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49885589T>C	ENST00000331456.2	-	2	256	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	48					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATTCGGCACTGTGGGCAGGT	0.488																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(142-144)cAg>cGg		TRAF interacting protein							99.0	85.0	90.0					3																	49885589		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49885589T>C	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.143A>G	3.37:g.49885589T>C	ENSP00000328203:p.Gln48Arg					TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R	p.Q48R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	256	-			48					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.143A>G	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664004	0.67700	.	.	ENSG00000183763	ENST00000331456;ENST00000469027;ENST00000482582;ENST00000482243	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.67397	2.05	0.48452	D	0.99965	D;D;D	0.76494	0.984;0.999;0.999	D;D;D	0.83275	0.932;0.996;0.979	T	0.58261	-0.7667	10	0.26408	T	0.33	-18.7394	15.0639	0.71977	0.0:0.0:0.0:1.0	.	48;48;48	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	R	48	ENSP00000328203:Q48R;ENSP00000420085:Q48R;ENSP00000418544:Q48R;ENSP00000419350:Q48R	ENSP00000328203:Q48R	Q	-	2	0	TRAIP	49860593	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.837000	0.75354	2.152000	0.67230	0.533000	0.62120	CAG		0.488	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		44	146	0	0	0	1	0	44	146				
TMEM214	54867	broad.mit.edu	37	2	27258869	27258869	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258869C>T	ENST00000238788.9	+	5	731	c.669C>T	c.(667-669)atC>atT	p.I223I	TMEM214_ENST00000404032.3_Silent_p.I178I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	223					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.I223I(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCATCTGTATCCAGGCCATCC	0.512																																						ENST00000238788.9																			1	Substitution - coding silent(1)	p.I223I(1)	kidney(1)	kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(667-669)atC>atT		transmembrane protein 214							98.0	99.0	99.0					2																	27258869		2114	4241	6355	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27258869C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.669C>T	2.37:g.27258869C>T						TMEM214_ENST00000404032.3_Silent_p.I178I	p.I223I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			5	731	+			223					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.669C>T	CCDS42664.1																																																																																				0.512	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		6	216	0	0	0	1	0	6	216				
MYO7B	4648	broad.mit.edu	37	2	128380907	128380907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128380907G>T	ENST00000409816.2	+	27	3730	c.3698G>T	c.(3697-3699)aGc>aTc	p.S1233I	MYO7B_ENST00000389524.4_Missense_Mutation_p.S1233I|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1233	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGGGCCTCAGCGACCACCTG	0.627																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(3697-3699)aGc>aTc		myosin VIIB							54.0	63.0	60.0					2																	128380907		2143	4243	6386	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128380907G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3698G>T	2.37:g.128380907G>T	ENSP00000386461:p.Ser1233Ile					MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I|MYO7B_ENST00000409816.2_Missense_Mutation_p.S1233I|MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I	p.S1233I			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	28	3751	+	Colorectal(110;0.1)		1233			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3698G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025394	0.35701	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	4.82	-5.52	0.02560	Band 4.1 domain (1);FERM domain (1);	0.720633	0.13276	N	0.400116	T	0.61553	0.2356	L	0.53249	1.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52026	-0.8630	10	0.62326	D	0.03	.	6.6697	0.23062	0.4751:0.3805:0.1445:0.0	.	1233	Q6PIF6	MYO7B_HUMAN	I	1233;1233;86;1233;86;86	ENSP00000374175:S1233I;ENSP00000415090:S1233I;ENSP00000386461:S1233I;ENSP00000404927:S86I;ENSP00000386850:S86I	ENSP00000272666:S86I	S	+	2	0	MYO7B	128097377	0.025000	0.19082	0.016000	0.15963	0.778000	0.44026	0.407000	0.21049	-0.967000	0.03582	0.491000	0.48974	AGC		0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		24	131	1	0	1.10923e-09	1	1.16946e-09	24	131				
CDHR1	92211	broad.mit.edu	37	10	85974198	85974198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974198G>A	ENST00000372117.3	+	17	2504	c.2401G>A	c.(2401-2403)Gcg>Acg	p.A801T	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	801	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCAGCGTGGCGCCCAGCAC	0.602																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2401-2403)Gcg>Acg		cadherin-related family member 1							83.0	88.0	86.0					10																	85974198		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974198G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2401G>A	10.37:g.85974198G>A	ENSP00000361189:p.Ala801Thr					CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T|CDHR1_ENST00000332904.3_Intron	p.A801T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2504	+			801			Pro-rich.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2401G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833474	0.32421	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56776	0.61;0.44	5.49	2.03	0.26663	.	0.963762	0.08721	N	0.903404	T	0.40222	0.1108	L	0.47716	1.5	0.09310	N	1	B;B	0.33583	0.017;0.418	B;B	0.27380	0.004;0.079	T	0.33650	-0.9860	10	0.49607	T	0.09	-16.1193	4.2007	0.10464	0.143:0.1398:0.5748:0.1425	.	505;801	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	801;505	ENSP00000361189:A801T;ENSP00000415980:A505T	ENSP00000361189:A801T	A	+	1	0	CDHR1	85964178	0.003000	0.15002	0.002000	0.10522	0.030000	0.12068	1.349000	0.33998	0.643000	0.30638	-0.282000	0.10007	GCG		0.602	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		170	734	0	0	0	1	0	170	734				
IL17RC	84818	broad.mit.edu	37	3	9972601	9972601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9972601C>T	ENST00000295981.3	+	16	1792	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|CRELD1_ENST00000326434.5_5'Flank|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	525					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACTTGGGAGCGCTATGGGCC	0.512																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1573-1575)gCg>gTg		interleukin 17 receptor C							272.0	256.0	261.0					3																	9972601		2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9972601C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1574C>T	3.37:g.9972601C>T	ENSP00000295981:p.Ala525Val					IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V	p.A525V	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			16	1792	+			525					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.1574C>T	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	0.679	-0.798909	0.02841	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	4.55	2.51	0.30379	.	0.247503	0.28647	N	0.014618	T	0.13286	0.0322	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.29627	0.078;0.054;0.026;0.026;0.04;0.032;0.043;0.231;0.252	B;B;B;B;B;B;B;B;B	0.21151	0.012;0.007;0.005;0.005;0.003;0.003;0.012;0.013;0.033	T	0.27191	-1.0081	10	0.13853	T	0.58	-2.586	7.2918	0.26370	0.0:0.7655:0.0:0.2345	.	439;293;422;437;454;293;439;525;454	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	V	439;525;454;293;422;454	ENSP00000373323:A439V;ENSP00000295981:A525V;ENSP00000384969:A454V;ENSP00000395315:A293V;ENSP00000407894:A422V;ENSP00000396064:A454V	ENSP00000295981:A525V	A	+	2	0	IL17RC	9947601	0.004000	0.15560	0.029000	0.17559	0.314000	0.28054	0.208000	0.17415	0.494000	0.27859	0.462000	0.41574	GCG		0.512	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		139	612	0	0	0	1	0	139	612				
MYH7B	57644	broad.mit.edu	37	20	33578879	33578879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578879G>A	ENST00000262873.7	+	22	2356	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	713	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGATCTGCCGCCAAGGGTTC	0.647																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2263-2265)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							63.0	70.0	68.0					20																	33578879		2114	4266	6380	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578879G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2264G>A	20.37:g.33578879G>A	ENSP00000262873:p.Arg755His						p.R755H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		22	2356	+			713			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2264G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058244	0.76074	.	.	ENSG00000078814	ENST00000262873	T	0.74842	-0.88	3.7	3.7	0.42460	Myosin head, motor domain (2);	0.000000	0.38111	N	0.001811	D	0.88819	0.6540	H	0.95114	3.625	0.58432	D	0.999998	D	0.69078	0.997	P	0.60949	0.881	D	0.92757	0.6221	10	0.87932	D	0	.	16.7703	0.85535	0.0:0.0:1.0:0.0	.	713	A7E2Y1	MYH7B_HUMAN	H	755	ENSP00000262873:R755H	ENSP00000262873:R755H	R	+	2	0	MYH7B	33042540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.601000	0.98297	2.379000	0.81126	0.655000	0.94253	CGC		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		35	292	0	0	0	1	0	35	292				
DDX60L	91351	broad.mit.edu	37	4	169305771	169305771	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169305771T>C	ENST00000511577.1	-	30	4355	c.4108A>G	c.(4108-4110)Aag>Gag	p.K1370E	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1370							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACCTTTGCCTTGGCATCCTCT	0.537																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4108-4110)Aag>Gag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							61.0	63.0	62.0					4																	169305771		2203	4297	6500	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169305771T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4108A>G	4.37:g.169305771T>C	ENSP00000422423:p.Lys1370Glu					DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E	p.K1370E			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	30	4355	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1370					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4108A>G		.	.	.	.	.	.	.	.	.	.	T	0.034	-1.315678	0.01331	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.17528	2.27;2.27	3.55	-2.16	0.07080	.	.	.	.	.	T	0.07007	0.0178	N	0.17379	0.485	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.42396	-0.9454	9	0.06494	T	0.89	.	4.8972	0.13757	0.0:0.2244:0.2885:0.4871	.	1370	Q5H9U9	DDX6L_HUMAN	E	1370	ENSP00000260184:K1370E;ENSP00000422423:K1370E	ENSP00000260184:K1370E	K	-	1	0	DDX60L	169542346	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-0.047000	0.11963	-0.142000	0.11354	-0.461000	0.05368	AAG		0.537	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		31	115	0	0	0	1	0	31	115				
EPN3	55040	broad.mit.edu	37	17	48614080	48614080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48614080G>A	ENST00000268933.3	+	2	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.E110K|EPN3_ENST00000541226.1_5'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	55	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGCCTTCACCGAAGTCATGGG	0.597																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(163-165)Gaa>Aaa		epsin 3							92.0	85.0	87.0					17																	48614080		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48614080G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.163G>A	17.37:g.48614080G>A	ENSP00000268933:p.Glu55Lys					EPN3_ENST00000537145.1_Missense_Mutation_p.E110K|EPN3_ENST00000541226.1_5'UTR	p.E55K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	742	+	Breast(11;1.23e-18)		55			ENTH.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.163G>A	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262270	0.95368	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000442715;ENST00000537145;ENST00000507709;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T	0.48522	0.81;0.81;0.85;0.81;0.81	5.28	5.28	0.74379	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.168407	0.51477	D	0.000086	T	0.76378	0.3979	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.82216	-0.0567	10	0.72032	D	0.01	-26.6736	18.5277	0.90978	0.0:0.0:1.0:0.0	.	110;110;55	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	K	55;55;110;110;16;55;55;55	ENSP00000268933:E55K;ENSP00000426762:E55K;ENSP00000439512:E110K;ENSP00000422601:E55K;ENSP00000421515:E55K	ENSP00000268933:E55K	E	+	1	0	EPN3	45969079	1.000000	0.71417	0.979000	0.43373	0.703000	0.40648	9.869000	0.99810	2.468000	0.83385	0.561000	0.74099	GAA		0.597	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		75	415	0	0	0	1	0	75	415				
ATP10D	57205	broad.mit.edu	37	4	47559715	47559715	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47559715A>C	ENST00000273859.3	+	12	2128	c.1859A>C	c.(1858-1860)aAg>aCg	p.K620T	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	620					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGCCCATTAAGTCTTTGGAA	0.423																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1858-1860)aAg>aCg		ATPase, class V, type 10D							44.0	48.0	46.0					4																	47559715		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559715A>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1859A>C	4.37:g.47559715A>C	ENSP00000273859:p.Lys620Thr					AC092597.3_ENST00000508081.1_RNA	p.K620T	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2128	+			620					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1859A>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	4.975	0.181158	0.09443	.	.	ENSG00000145246	ENST00000273859	T	0.39406	1.08	5.48	2.82	0.32997	HAD-like domain (1);	0.217737	0.46145	D	0.000317	T	0.23572	0.0570	N	0.25286	0.73	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	T	0.04946	-1.0916	10	0.08179	T	0.78	-19.5022	8.3194	0.32119	0.7755:0.1404:0.0841:0.0	.	620	Q9P241	AT10D_HUMAN	T	620	ENSP00000273859:K620T	ENSP00000273859:K620T	K	+	2	0	ATP10D	47254472	1.000000	0.71417	0.951000	0.38953	0.020000	0.10135	4.235000	0.58666	0.875000	0.35847	-0.366000	0.07423	AAG		0.423	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		61	236	0	0	0	1	0	61	236				
PCDHB7	56129	broad.mit.edu	37	5	140554076	140554076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554076G>A	ENST00000231137.3	+	1	1834	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.726																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1660-1662)Gcc>Acc																																						SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554076G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1660G>A	5.37:g.140554076G>A	ENSP00000231137:p.Ala554Thr						p.A554T	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1834	+			554			Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1660G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	11.96	1.793689	0.31685	.	.	ENSG00000113212	ENST00000231137	T	0.03181	4.02	4.3	3.38	0.38709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	N	0.12527	0.23	0.23661	N	0.997171	B	0.25850	0.136	B	0.21546	0.035	T	0.45220	-0.9276	9	0.40728	T	0.16	.	12.4687	0.55775	0.0:0.3241:0.6759:0.0	.	554	Q9Y5E2	PCDB7_HUMAN	T	554	ENSP00000231137:A554T	ENSP00000231137:A554T	A	+	1	0	PCDHB7	140534260	0.000000	0.05858	0.769000	0.31535	0.934000	0.57294	0.692000	0.25482	0.853000	0.35312	0.449000	0.29647	GCC		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		108	485	0	0	0	1	0	108	485				
MICALCL	84953	broad.mit.edu	37	11	12341278	12341278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12341278G>A	ENST00000256186.2	+	4	1753	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	488					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACAGGTAACAGAGGCTTCCTC	0.458																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1462-1464)Gag>Aag		MICAL C-terminal like							114.0	115.0	115.0					11																	12341278		1926	4130	6056	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12341278G>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1462G>A	11.37:g.12341278G>A	ENSP00000256186:p.Glu488Lys						p.E488K	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	4	1753	+			488					Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.1462G>A	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659779	0.29515	.	.	ENSG00000133808	ENST00000256186	T	0.09911	2.93	5.55	4.58	0.56647	.	0.348813	0.20333	N	0.094386	T	0.07863	0.0197	L	0.38175	1.15	0.21740	N	0.999568	P	0.43094	0.799	B	0.33339	0.162	T	0.34675	-0.9819	10	0.22109	T	0.4	.	13.2894	0.60262	0.0:0.1588:0.8412:0.0	.	488	Q6ZW33	MICLK_HUMAN	K	488	ENSP00000256186:E488K	ENSP00000256186:E488K	E	+	1	0	MICALCL	12297854	0.616000	0.27035	0.339000	0.25562	0.465000	0.32709	3.063000	0.49978	2.753000	0.94483	0.655000	0.94253	GAG		0.458	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		101	443	0	0	0	1	0	101	443				
TEX15	56154	broad.mit.edu	37	8	30705470	30705470	+	Missense_Mutation	SNP	C	C	A	rs201946995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30705470C>A	ENST00000256246.2	-	1	1138	c.1064G>T	c.(1063-1065)aGt>aTt	p.S355I	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	355					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATGGCTAAACTTGTATGAAT	0.378																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1063-1065)aGt>aTt		testis expressed 15							70.0	66.0	67.0					8																	30705470		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705470C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1064G>T	8.37:g.30705470C>A	ENSP00000256246:p.Ser355Ile						p.S355I	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1138	-			355						Missense_Mutation	SNP	ENST00000256246.2	37	c.1064G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	7.592	0.670934	0.14776	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.46	-2.5	0.06384	.	0.558840	0.18195	N	0.148712	T	0.11281	0.0275	L	0.27053	0.805	0.09310	N	1	P	0.40794	0.729	P	0.48400	0.576	T	0.18366	-1.0339	10	0.87932	D	0	.	12.1096	0.53831	0.0:0.3605:0.0:0.6395	.	355	Q9BXT5	TEX15_HUMAN	I	355	ENSP00000256246:S355I	ENSP00000256246:S355I	S	-	2	0	TEX15	30825012	0.005000	0.15991	0.005000	0.12908	0.054000	0.15201	-0.517000	0.06275	-0.457000	0.07033	-1.000000	0.02509	AGT		0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			33	163	1	0	3.99451e-17	1	4.40333e-17	33	163				
BMPER	168667	broad.mit.edu	37	7	34101630	34101630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34101630G>A	ENST00000297161.2	+	12	1423	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	350	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTCTCAACAGAAAAGGATGC	0.289																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1048-1050)aGa>aAa		BMP binding endothelial regulator							92.0	88.0	90.0					7																	34101630		2203	4299	6502	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34101630G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1049G>A	7.37:g.34101630G>A	ENSP00000297161:p.Arg350Lys					BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	p.R350K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			12	1423	+			350			VWFC 5.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1049G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262841	0.39995	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64260	-0.09;-0.09	6.06	5.18	0.71444	von Willebrand factor, type C (4);	0.085942	0.85682	N	0.000000	T	0.48804	0.1520	L	0.45228	1.405	0.50813	D	0.999896	B	0.31026	0.304	B	0.26614	0.071	T	0.43861	-0.9365	10	0.05721	T	0.95	.	14.8026	0.69926	0.0684:0.0:0.9316:0.0	.	350	Q8N8U9	BMPER_HUMAN	K	350	ENSP00000297161:R350K;ENSP00000393950:R350K	ENSP00000297161:R350K	R	+	2	0	BMPER	34068155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.324000	0.72896	2.880000	0.98712	0.650000	0.86243	AGA		0.289	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		16	90	0	0	0	1	0	16	90				
TRAV27	28655	broad.mit.edu	37	14	22616368	22616368	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22616368C>A	ENST00000390457.2	+	0	206									T cell receptor alpha variable 27																		GGGAGAAAATCTCACTGTGTA	0.517																																						ENST00000390457.2																			0																				65.0	68.0	67.0					14																	22616368		1871	4110	5981			0							g.chr14:22616368C>A	AE000660		14q11.2	2012-02-07			ENSG00000211809	ENSG00000211809		"""T cell receptors / TRA locus"""	12125	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170656		14.37:g.22616368C>A														0	206	+									RNA	SNP	ENST00000390457.2	37																																																																																						0.517	TRAV27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409904.1	NG_001332		48	183	1	0	8.0703e-11	1	8.58001e-11	48	183				
ZNF366	167465	broad.mit.edu	37	5	71756349	71756349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71756349C>T	ENST00000318442.5	-	2	1465	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	325					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCATGTGGCGCTTCAGGTGGC	0.657																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(973-975)aaG>aaA		zinc finger protein 366							42.0	40.0	41.0					5																	71756349		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756349C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.975G>A	5.37:g.71756349C>T							p.K325K	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1465	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	325					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.975G>A	CCDS4015.1																																																																																				0.657	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			66	231	0	0	0	1	0	66	231				
TAS2R16	50833	broad.mit.edu	37	7	122635379	122635379	+	Missense_Mutation	SNP	A	A	G	rs543103403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635379A>G	ENST00000249284.2	-	1	375	c.310T>C	c.(310-312)Tgc>Cgc	p.C104R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	104					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCTTGATGCAGTAGAACACG	0.373																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(310-312)Tgc>Cgc		taste receptor, type 2, member 16							78.0	77.0	77.0					7																	122635379		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635379A>G	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.310T>C	7.37:g.122635379A>G	ENSP00000249284:p.Cys104Arg						p.C104R	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	375	-			104					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.310T>C	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049427	0.36181	.	.	ENSG00000128519	ENST00000249284	T	0.38077	1.16	4.33	4.33	0.51752	.	0.062957	0.64402	D	0.000007	T	0.62901	0.2466	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69213	-0.5204	10	0.87932	D	0	.	10.0659	0.42303	1.0:0.0:0.0:0.0	.	104	Q9NYV7	T2R16_HUMAN	R	104	ENSP00000249284:C104R	ENSP00000249284:C104R	C	-	1	0	TAS2R16	122422615	0.991000	0.36638	1.000000	0.80357	0.113000	0.19764	3.260000	0.51523	1.948000	0.56530	0.533000	0.62120	TGC		0.373	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		45	236	0	0	0	1	0	45	236				
SRSF7	6432	broad.mit.edu	37	2	38976720	38976720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38976720C>T	ENST00000313117.6	-	3	574	c.337G>A	c.(337-339)Gga>Aga	p.G113R	SRSF7_ENST00000446327.2_Missense_Mutation_p.G113R|SRSF7_ENST00000409276.1_Missense_Mutation_p.G113R|GEMIN6_ENST00000409011.1_5'Flank	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	113					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCATAATGTCCCTTTTCGCCA	0.418																																						ENST00000313117.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(337-339)Gga>Aga		serine/arginine-rich splicing factor 7							157.0	149.0	152.0					2																	38976720		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38976720C>T	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.337G>A	2.37:g.38976720C>T	ENSP00000325905:p.Gly113Arg					SRSF7_ENST00000446327.2_Missense_Mutation_p.G113R|SRSF7_ENST00000409276.1_Missense_Mutation_p.G113R	p.G113R	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN			3	574	-			113					B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.337G>A	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788892	0.90367	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	D;D;D	0.96491	-4.03;-4.03;-4.03	6.03	6.03	0.97812	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.000000	0.64402	D	0.000001	D	0.98188	0.9401	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98444	1.0588	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	113;113	G5E9M3;Q16629	.;SRSF7_HUMAN	R	113	ENSP00000325905:G113R;ENSP00000402264:G113R;ENSP00000386806:G113R	ENSP00000325905:G113R	G	-	1	0	SRSF7	38830224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.507000	0.81676	2.861000	0.98227	0.655000	0.94253	GGA		0.418	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		79	848	0	0	0	1	0	79	848				
RALGPS1	9649	broad.mit.edu	37	9	129975289	129975289	+	Missense_Mutation	SNP	G	G	A	rs199937278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129975289G>A	ENST00000259351.5	+	17	1780	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	505	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGATGACCCCGAGCACCCAGA	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19411	0.0		0.0	False		,,,				2504	0.0					ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1513-1515)Gag>Aag		Ral GEF with PH domain and SH3 binding motif 1							62.0	60.0	61.0					9																	129975289		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129975289G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1513G>A	9.37:g.129975289G>A	ENSP00000259351:p.Glu505Lys					RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K	p.E505K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			17	1780	+			505			PH.|Required for stimulation of nucleotide exchange by RALA.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.1513G>A	CCDS35143.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.48	2.547441	0.45383	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434	T;T;T	0.76186	-1.0;-1.0;-1.0	5.46	5.46	0.80206	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.173457	0.49916	D	0.000135	T	0.66386	0.2784	L	0.40543	1.245	0.40964	D	0.984648	B;B;P	0.39576	0.05;0.069;0.679	B;B;B	0.36289	0.013;0.005;0.221	T	0.64643	-0.6359	10	0.15499	T	0.54	.	19.3156	0.94211	0.0:0.0:1.0:0.0	.	463;455;505	E9PBQ5;Q5JS13-2;Q5JS13	.;.;RGPS1_HUMAN	K	505;463;455	ENSP00000259351:E505K;ENSP00000415630:E463K;ENSP00000362533:E455K	ENSP00000259351:E505K	E	+	1	0	RALGPS1	129015110	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.782000	0.68973	2.552000	0.86080	0.655000	0.94253	GAG		0.572	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		38	280	0	0	0	1	0	38	280				
MARCH6	10299	broad.mit.edu	37	5	10391791	10391791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10391791G>T	ENST00000274140.5	+	7	846	c.714G>T	c.(712-714)gaG>gaT	p.E238D	MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D|MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	238					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						acaatgaggaggaagatgaCG	0.557																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(712-714)gaG>gaT		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							135.0	101.0	112.0					5																	10391791		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10391791G>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.714G>T	5.37:g.10391791G>T	ENSP00000274140:p.Glu238Asp					MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D|MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D	p.E238D	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			7	846	+			238					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.714G>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657716	0.29425	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.47869	1.84;0.83;1.82	6.02	0.565	0.17309	.	0.147552	0.64402	N	0.000012	T	0.17238	0.0414	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.06041	-1.0849	10	0.12430	T	0.62	-6.7228	4.8495	0.13530	0.243:0.0:0.2982:0.4588	.	133;190;238	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	D	190;133;238	ENSP00000414643:E190D;ENSP00000425930:E133D;ENSP00000274140:E238D	ENSP00000274140:E238D	E	+	3	2	MARCH6	10444791	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.545000	0.36169	0.130000	0.18549	0.655000	0.94253	GAG		0.557	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		11	183	1	0	3.03607e-14	1	3.29445e-14	11	183				
ZNF827	152485	broad.mit.edu	37	4	146824292	146824292	+	Missense_Mutation	SNP	G	G	A	rs149206051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146824292G>A	ENST00000508784.1	-	2	346	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L			Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGCTTCTGACGGAGTCTCTGA	0.532																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(118-120)cCg>cTg		zinc finger protein 827		G	LEU/PRO	0,4406		0,0,2203	88.0	91.0	90.0		119	5.7	1.0	4	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF827	NM_178835.3	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	40/1078	146824292	2,13004	2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824292G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.119C>T	4.37:g.146824292G>A	ENSP00000421863:p.Pro40Leu					ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L	p.P40L			Q17R98	ZN827_HUMAN			2	346	-	all_hematologic(180;0.151)		40					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.119C>T		.	.	.	.	.	.	.	.	.	.	G	18.39	3.612703	0.66672	0.0	2.33E-4	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09163	3.01;3.05	5.69	5.69	0.88448	.	0.048635	0.85682	D	0.000000	T	0.21022	0.0506	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.62014	0.791;0.897	T	0.01146	-1.1437	10	0.72032	D	0.01	-16.9029	19.8182	0.96579	0.0:0.0:1.0:0.0	.	40;40	Q17R98;Q17R98-2	ZN827_HUMAN;.	L	40;40;39	ENSP00000421863:P40L;ENSP00000368761:P40L	ENSP00000281318:P39L	P	-	2	0	ZNF827	147043742	1.000000	0.71417	0.956000	0.39512	0.958000	0.62258	5.679000	0.68160	2.700000	0.92200	0.561000	0.74099	CCG		0.532	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		101	413	0	0	0	1	0	101	413				
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1060-1062)cGc>cAc		zinc finger protein 613							97.0	97.0	97.0					19																	52448197		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448197G>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1061G>A	19.37:g.52448197G>A	ENSP00000293471:p.Arg354His					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	p.R354H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1740	+		all_neural(266;0.117)	354					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1061G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905323	0.52333	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07567	3.18;3.18	3.26	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.950270	0.02940	N	0.140304	T	0.10981	0.0268	L	0.53249	1.67	0.22926	N	0.998558	B	0.25351	0.124	B	0.23419	0.046	T	0.32428	-0.9907	10	0.54805	T	0.06	.	4.6272	0.12484	0.1284:0.2282:0.6434:0.0	.	354	Q6PF04	ZN613_HUMAN	H	354;318;28	ENSP00000293471:R354H;ENSP00000375671:R318H	ENSP00000293471:R354H	R	+	2	0	ZNF613	57140009	0.000000	0.05858	0.793000	0.32043	0.922000	0.55478	-2.036000	0.01421	0.708000	0.31955	0.655000	0.94253	CGC		0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		59	411	0	0	0	1	0	59	411				
SH3BP1	23616	broad.mit.edu	37	22	38043498	38043498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043498G>A	ENST00000357436.4	+	13	1482	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	SH3BP1_ENST00000599616.1_Missense_Mutation_p.R326H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	390	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GTGTGCAGCCGCCTACCCCCC	0.701																																						ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(976-978)cGc>cAc		SH3-domain binding protein 1							14.0	19.0	17.0					22																	38043498		2200	4297	6497	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38043498G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1169G>A	22.37:g.38043498G>A	ENSP00000350018:p.Arg390His					SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|SH3BP1_ENST00000357436.4_Missense_Mutation_p.R390H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA	p.R326H			Q9Y3L3	3BP1_HUMAN			11	977	+	Melanoma(58;0.0574)		390			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.977G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683971	0.29872	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18960	2.18;2.18;2.18	5.52	3.42	0.39159	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.214766	0.32624	N	0.005850	T	0.36853	0.0982	L	0.53249	1.67	0.09310	N	1	B;D;B;P;D	0.89917	0.043;1.0;0.047;0.919;1.0	B;D;B;B;D	0.74348	0.013;0.983;0.012;0.189;0.983	T	0.04961	-1.0915	10	0.72032	D	0.01	.	9.3123	0.37912	0.2242:0.0:0.7758:0.0	.	390;304;326;390;304	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	H	390;390;390;304	ENSP00000350018:R390H;ENSP00000337213:R390H;ENSP00000395126:R390H	ENSP00000337213:R390H	R	+	2	0	SH3BP1	36373444	0.037000	0.19845	0.997000	0.53966	0.303000	0.27691	1.677000	0.37576	1.353000	0.45828	-0.439000	0.05793	CGC		0.701	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		34	153	0	0	0	1	0	34	153				
FAM160A2	84067	broad.mit.edu	37	11	6239851	6239851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6239851C>A	ENST00000449352.2	-	8	1677	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E472*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	472					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGCATGCTCTGGACGAGGT	0.607																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1414-1416)Gag>Tag		family with sequence similarity 160, member A2							121.0	106.0	111.0					11																	6239851		2201	4296	6497	SO:0001587	stop_gained	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6239851C>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1414G>T	11.37:g.6239851C>A	ENSP00000416918:p.Glu472*					FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000449352.2_Nonsense_Mutation_p.E472*	p.E472*	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			8	1772	-			472					Q9C0A4|Q9H0N3|Q9H624	Nonsense_Mutation	SNP	ENST00000449352.2	37	c.1414G>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	41	8.899205	0.98996	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.39	5.39	0.77823	.	0.096661	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-19.5313	18.3197	0.90234	0.0:1.0:0.0:0.0	.	.	.	.	X	472;397;472;472	.	ENSP00000265978:E472X	E	-	1	0	FAM160A2	6196427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.795000	0.96236	0.655000	0.94253	GAG		0.607	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		161	678	1	0	1.34565e-61	1	1.69474e-61	161	678				
LRRC47	57470	broad.mit.edu	37	1	3699296	3699296	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3699296A>G	ENST00000378251.1	-	5	1369	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H	RN7SL574P_ENST00000581512.1_RNA|RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	448							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGACACGGGTAATTTTCATTT	0.438																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1342-1344)Tac>Cac		leucine rich repeat containing 47							156.0	131.0	139.0					1																	3699296		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3699296A>G	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1342T>C	1.37:g.3699296A>G	ENSP00000367498:p.Tyr448His						p.Y448H	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	5	1369	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	448					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1342T>C	CCDS51.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189190	0.78789	.	.	ENSG00000130764	ENST00000378251	T	0.54479	0.57	4.49	4.49	0.54785	B3/B4 tRNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80894	-0.1178	10	0.87932	D	0	-30.4893	12.9815	0.58567	1.0:0.0:0.0:0.0	.	448	Q8N1G4	LRC47_HUMAN	H	448	ENSP00000367498:Y448H	ENSP00000367498:Y448H	Y	-	1	0	LRRC47	3689156	1.000000	0.71417	0.843000	0.33291	0.986000	0.74619	8.820000	0.92003	1.669000	0.50854	0.402000	0.26972	TAC		0.438	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		56	295	0	0	0	1	0	56	295				
KMT2E	55904	broad.mit.edu	37	7	104752725	104752725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104752725G>A	ENST00000311117.3	+	27	5067	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.A563T|KMT2E_ENST00000257745.4_Missense_Mutation_p.A1508T|KMT2E_ENST00000334877.4_Missense_Mutation_p.A1466T	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1508	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAACCTTCCAGCCAATACTCA	0.458																																						ENST00000334877.4																			0											c.(4396-4398)Gcc>Acc		lysine (K)-specific methyltransferase 2E							108.0	114.0	112.0					7																	104752725		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104752725G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4522G>A	7.37:g.104752725G>A	ENSP00000312379:p.Ala1508Thr					KMT2E_ENST00000257745.4_Missense_Mutation_p.A1508T|KMT2E_ENST00000311117.3_Missense_Mutation_p.A1508T|KMT2E_ENST00000334914.7_Missense_Mutation_p.A563T|SRPK2_ENST00000493638.1_Intron	p.A1466T							26	4930	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4396G>A	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.271445|1.271445	0.23221|0.23221	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914|ENST00000393656	D;D;D;T|.	0.91521|.	-2.86;-2.53;-2.86;0.9|.	3.62|3.62	1.59|1.59	0.23543|0.23543	.|.	0.481172|.	0.17420|.	N|.	0.174859|.	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.11235|.	0.004;0.0|.	B;B|.	0.12156|.	0.007;0.001|.	T|T	0.09122|0.09122	-1.0689|-1.0689	10|6	0.27785|0.62326	T|D	0.31|0.03	.|.	3.7284|3.7284	0.08484|0.08484	0.1082:0.2881:0.4785:0.1252|0.1082:0.2881:0.4785:0.1252	.|.	1428;1508|.	F8W6H1;Q8IZD2|.	.;MLL5_HUMAN|.	T|M	1508;1466;1428;1508;563|1508	ENSP00000312379:A1508T;ENSP00000335599:A1466T;ENSP00000257745:A1508T;ENSP00000333986:A563T|.	ENSP00000257745:A1508T|ENSP00000377266:V1508M	A|V	+|+	1|1	0|0	MLL5|MLL5	104539961|104539961	0.749000|0.749000	0.28305|0.28305	0.940000|0.940000	0.37924|0.37924	0.931000|0.931000	0.56810|0.56810	2.070000|2.070000	0.41491|0.41491	0.637000|0.637000	0.30526|0.30526	0.455000|0.455000	0.32223|0.32223	GCC|GTG		0.458	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			68	315	0	0	0	1	0	68	315				
SURF4	6836	broad.mit.edu	37	9	136231830	136231830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136231830C>T	ENST00000371989.3	-	5	558	c.429G>A	c.(427-429)gcG>gcA	p.A143A	SURF4_ENST00000371991.3_Silent_p.A143A|SURF4_ENST00000485435.2_Silent_p.A143A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	143					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGGGGACGCCCGCAAACATGC	0.577																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(427-429)gcG>gcA		surfeit 4							68.0	55.0	59.0					9																	136231830		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136231830C>T		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.429G>A	9.37:g.136231830C>T						SURF4_ENST00000485435.2_Silent_p.A143A|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Silent_p.A143A	p.A143A	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	5	558	-			143					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.429G>A	CCDS6968.1																																																																																				0.577	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		19	86	0	0	0	1	0	19	86				
UGT1A1	54658	broad.mit.edu	37	2	234526586	234526586	+	Missense_Mutation	SNP	C	C	T	rs200115254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526586C>T	ENST00000373450.4	+	1	296	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	80					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.S78*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AAGACTTACTCAACCTCATAC	0.463													-|||	1	0.000199681	0.0	0.0014	5008	,	,		20350	0.0		0.0	False		,,,				2504	0.0					ENST00000373450.4																			1	Substitution - Nonsense(1)	p.S78*(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(232-234)tCa>tTa									133.0	124.0	127.0					2																	234526586		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526586C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.233C>T	2.37:g.234526586C>T	ENSP00000362549:p.Ser78Leu						p.S78L	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	296	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.233C>T	CCDS33402.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.12	1.544877	0.27652	.	.	ENSG00000242366	ENST00000373450	T	0.60797	0.16	3.96	-2.22	0.06952	.	.	.	.	.	T	0.52677	0.1749	M	0.71581	2.175	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.013;0.013	T	0.54337	-0.8309	9	0.72032	D	0.01	.	8.6158	0.33831	0.5213:0.4042:0.0:0.0746	.	78;78	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	L	78	ENSP00000362549:S78L	ENSP00000362549:S78L	S	+	2	0	UGT1A8	234191325	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.735000	0.26115	-0.191000	0.10448	-0.558000	0.04189	TCA		0.463	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			138	624	0	0	0	1	0	138	624				
PHF7	51533	broad.mit.edu	37	3	52448595	52448595	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52448595T>G	ENST00000327906.3	+	4	838	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	PHF7_ENST00000347025.2_Missense_Mutation_p.F60V|PHF7_ENST00000482327.1_3'UTR	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	60						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CGTGCATTATTTCTGTCTTGT	0.443																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(178-180)Ttc>Gtc		PHD finger protein 7							109.0	109.0	109.0					3																	52448595		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52448595T>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.178T>G	3.37:g.52448595T>G	ENSP00000333024:p.Phe60Val					PHF7_ENST00000347025.2_Missense_Mutation_p.F60V|PHF7_ENST00000478707.1_Missense_Mutation_p.F60V|PHF7_ENST00000482327.1_3'UTR	p.F60V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	4	838	+			60					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.178T>G	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.134929|4.134929	0.77662|0.77662	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000454052|ENST00000461861	T;T;T|.	0.69040|.	-0.37;-0.37;-0.37|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.157115|.	0.56097|.	D|.	0.000022|.	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.81341|0.81341	2.54|2.54	0.46458|0.46458	D|D	0.999055|0.999055	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.79108|.	0.992;0.992|.	T|T	0.76721|0.76721	-0.2855|-0.2855	10|5	0.31617|.	T|.	0.26|.	-19.9395|-19.9395	11.9004|11.9004	0.52680|0.52680	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	60;60|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	V|M	60;60;60;25|19	ENSP00000419316:F60V;ENSP00000333024:F60V;ENSP00000246282:F60V|.	ENSP00000333024:F60V|.	F|I	+|+	1|3	0|3	PHF7|PHF7	52423635|52423635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	3.582000|3.582000	0.53921|0.53921	2.071000|2.071000	0.62044|0.62044	0.460000|0.460000	0.39030|0.39030	TTC|ATT		0.443	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		11	361	0	0	0	1	0	11	361				
ZNF106	64397	broad.mit.edu	37	15	42714807	42714807	+	Silent	SNP	G	G	A	rs138934970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42714807G>A	ENST00000263805.4	-	15	5522	c.5196C>T	c.(5194-5196)ctC>ctT	p.L1732L	ZNF106_ENST00000565380.1_Silent_p.L960L|ZNF106_ENST00000565611.1_Silent_p.L917L|ZNF106_ENST00000565660.1_5'UTR	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	1732					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)										AGATCCGCACGAGCTCACCAG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		17563	0.0		0.001	False		,,,				2504	0.0					ENST00000263805.4																			0											c.(5194-5196)ctC>ctT		zinc finger protein 106		G		3,4403	6.2+/-15.9	0,3,2200	89.0	81.0	83.0		5196	-10.8	0.3	15	dbSNP_134	83	0,8598		0,0,4299	no	coding-synonymous	ZFP106	NM_022473.1		0,3,6499	AA,AG,GG		0.0,0.0681,0.0231		1732/1884	42714807	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42714807G>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.5196C>T	15.37:g.42714807G>A						ZNF106_ENST00000565380.1_Silent_p.L960L|ZNF106_ENST00000565660.1_5'UTR|ZNF106_ENST00000565611.1_Silent_p.L917L	p.L1732L	NM_022473.1	NP_071918.1					15	5522	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.5196C>T	CCDS32208.1																																																																																				0.418	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		49	200	0	0	0	1	0	49	200				
LRP5	4041	broad.mit.edu	37	11	68191127	68191127	+	Silent	SNP	C	C	T	rs370274326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68191127C>T	ENST00000294304.7	+	14	3304	c.3198C>T	c.(3196-3198)cgC>cgT	p.R1066R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1066	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGGGACCGCGACAAGCCCA	0.677																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3196-3198)cgC>cgT		low density lipoprotein receptor-related protein 5							76.0	70.0	72.0					11																	68191127		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68191127C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3198C>T	11.37:g.68191127C>T							p.R1066R	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			14	3304	+			1066			Beta-propeller 4.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3198C>T	CCDS8181.1																																																																																				0.677	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		97	390	0	0	0	1	0	97	390				
NPAT	4863	broad.mit.edu	37	11	108042973	108042973	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108042973T>C	ENST00000278612.8	-	13	2843	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	913					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATACACTGTTTGACCTTGG	0.403																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(2737-2739)aAc>aGc		nuclear protein, ataxia-telangiectasia locus							236.0	219.0	224.0					11																	108042973		1965	4148	6113	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108042973T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2738A>G	11.37:g.108042973T>C	ENSP00000278612:p.Asn913Ser						p.N913S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2843	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	913					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.2738A>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843028	0.16963	.	.	ENSG00000149308	ENST00000278612	T	0.04015	3.73	5.83	0.92	0.19397	.	0.310876	0.32952	N	0.005447	T	0.04452	0.0122	L	0.50919	1.6	0.24433	N	0.994562	B;B	0.20052	0.018;0.041	B;B	0.16722	0.016;0.011	T	0.39057	-0.9632	10	0.26408	T	0.33	-6.4258	5.5292	0.16974	0.1229:0.2474:0.0:0.6297	.	913;913	B9EG70;Q14207	.;NPAT_HUMAN	S	913	ENSP00000278612:N913S	ENSP00000278612:N913S	N	-	2	0	NPAT	107548183	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	0.607000	0.24209	0.113000	0.18004	0.533000	0.62120	AAC		0.403	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		147	739	0	0	0	1	0	147	739				
LILRA6	79168	broad.mit.edu	37	19	54742952	54742952	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54742952C>A	ENST00000396365.2	-	8	1362	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N	LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	441					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGTAATCCTTGGCGTGTG	0.592																																						ENST00000396365.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1321-1323)aaG>aaT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							112.0	102.0	105.0					19																	54742952		2180	4298	6478	SO:0001583	missense	79168							g.chr19:54742952C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1323G>T	19.37:g.54742952C>A	ENSP00000379651:p.Lys441Asn					LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron	p.K441N	NM_024318.2	NP_077294.2				GBM - Glioblastoma multiforme(193;0.105)	8	1362	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.1323G>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983783	0.18889	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00523	6.85;6.83	2.69	1.44	0.22558	.	.	.	.	.	T	0.00384	0.0012	L	0.34521	1.04	0.36748	D	0.882587	B	0.12630	0.006	B	0.04013	0.001	T	0.58526	-0.7621	9	0.66056	D	0.02	.	4.9023	0.13781	0.0:0.7616:0.0:0.2384	.	441	Q6PI73	LIRA6_HUMAN	N	441;424	ENSP00000379651:K441N;ENSP00000245621:K424N	ENSP00000245621:K424N	K	-	3	2	LILRA6	59434764	0.014000	0.17966	0.096000	0.21009	0.039000	0.13416	-0.216000	0.09266	0.255000	0.21593	0.174000	0.16983	AAG		0.592	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		40	426	1	0	3.66105e-37	1	4.39389e-37	40	426				
RASAL1	8437	broad.mit.edu	37	12	113556937	113556937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113556937C>T	ENST00000261729.5	-	8	953	c.638G>A	c.(637-639)gGc>gAc	p.G213D	RASAL1_ENST00000546530.1_Missense_Mutation_p.G213D|RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	213	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCTCACCATGCCCAAGAAGTC	0.612																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(637-639)gGc>gAc		RAS protein activator like 1 (GAP1 like)							146.0	129.0	135.0					12																	113556937		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113556937C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.638G>A	12.37:g.113556937C>T	ENSP00000261729:p.Gly213Asp					RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D|RASAL1_ENST00000261729.5_Missense_Mutation_p.G213D|RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000418411.2_5'UTR	p.G213D	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			8	923	-			213			C2 2.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.638G>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069803	0.93950	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.49	5.49	0.81192	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057398	0.64402	D	0.000001	D	0.98795	0.9594	H	0.98446	4.235	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99581	1.0973	10	0.87932	D	0	.	18.1326	0.89606	0.0:1.0:0.0:0.0	.	213;213;213;225;213;213;213	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	D	213	ENSP00000450244:G213D;ENSP00000261729:G213D;ENSP00000395920:G213D;ENSP00000448510:G213D	ENSP00000261729:G213D	G	-	2	0	RASAL1	112041320	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.389000	0.79806	2.592000	0.87571	0.511000	0.50034	GGC		0.612	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		20	978	0	0	0	1	0	20	978				
ACTR8	93973	broad.mit.edu	37	3	53911410	53911410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53911410A>G	ENST00000335754.3	-	5	615	c.515T>C	c.(514-516)tTg>tCg	p.L172S	ACTR8_ENST00000482349.1_Missense_Mutation_p.L61S|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	172					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTAACATACAAGGCCTAGAA	0.413																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(514-516)tTg>tCg		ARP8 actin-related protein 8 homolog (yeast)							44.0	47.0	46.0					3																	53911410		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53911410A>G		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.515T>C	3.37:g.53911410A>G	ENSP00000336842:p.Leu172Ser					ACTR8_ENST00000482349.1_Missense_Mutation_p.L61S	p.L172S	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	5	615	-			172					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.515T>C	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392418	0.83011	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	T;T	0.46819	0.86;0.86	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74945	-0.3491	10	0.35671	T	0.21	-0.0941	15.0492	0.71854	1.0:0.0:0.0:0.0	.	172	Q9H981	ARP8_HUMAN	S	172;61;61	ENSP00000336842:L172S;ENSP00000419429:L61S	ENSP00000336842:L172S	L	-	2	0	ACTR8	53886450	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.923000	0.92808	2.288000	0.76882	0.528000	0.53228	TTG		0.413	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		35	175	0	0	0	1	0	35	175				
ACLY	47	broad.mit.edu	37	17	40048575	40048575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40048575C>T	ENST00000352035.2	-	16	1857	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	ACLY_ENST00000537919.1_Missense_Mutation_p.R305H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H|ACLY_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000393896.2_Missense_Mutation_p.R566H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	576					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATAGGCAGAGCGGAGAGAGGC	0.552																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1726-1728)cGc>cAc		ATP citrate lyase							109.0	88.0	95.0					17																	40048575		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40048575C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1727G>A	17.37:g.40048575C>T	ENSP00000253792:p.Arg576His					ACLY_ENST00000393896.2_Missense_Mutation_p.R566H|ACLY_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000537919.1_Missense_Mutation_p.R305H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H	p.R576H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			16	1857	-		Breast(137;0.000143)	576					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.1727G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395884	0.96009	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.64	5.64	0.86602	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.991;0.996;0.996;0.999;0.991	D	0.95226	0.8338	10	0.87932	D	0	.	20.0666	0.97706	0.0:1.0:0.0:0.0	.	305;620;630;566;576	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	576;630;566;305;566	ENSP00000253792:R576H;ENSP00000345398:R566H;ENSP00000445349:R305H;ENSP00000377474:R566H	ENSP00000253792:R576H	R	-	2	0	ACLY	37302101	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	7.729000	0.84864	2.826000	0.97356	0.561000	0.74099	CGC		0.552	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		41	229	0	0	0	1	0	41	229				
KIF13A	63971	broad.mit.edu	37	6	17850613	17850613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17850613G>A	ENST00000259711.6	-	8	763	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378814.5_Missense_Mutation_p.R220C	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCATGGGAGCGGCTGCTTTCT	0.468																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(658-660)Cgc>Tgc		kinesin family member 13A							110.0	112.0	111.0					6																	17850613		1952	4131	6083	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17850613G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.658C>T	6.37:g.17850613G>A	ENSP00000259711:p.Arg220Cys					KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000259711.6_Missense_Mutation_p.R220C	p.R220C	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		8	657	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	220			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.658C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263361	0.95399	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.78	5.78	0.91487	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	H	0.99650	4.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98633	1.0672	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	220;220;220;220	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	C	220	ENSP00000368091:R220C;ENSP00000259711:R220C;ENSP00000368103:R220C;ENSP00000368120:R220C;ENSP00000368093:R220C	ENSP00000259711:R220C	R	-	1	0	KIF13A	17958592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.724000	0.93272	0.563000	0.77884	CGC		0.468	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			40	194	0	0	0	1	0	40	194				
SOGA1	140710	broad.mit.edu	37	20	35457524	35457524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35457524C>T	ENST00000357779.3	-	3	616	c.290G>A	c.(289-291)cGt>cAt	p.R97H	SOGA1_ENST00000279034.6_Missense_Mutation_p.R97H|SOGA1_ENST00000237536.4_Missense_Mutation_p.R335H			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	97					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GAGCCGCTGACGAAGCTCTTC	0.612																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1003-1005)cGt>cAt		suppressor of glucose, autophagy associated 1							33.0	42.0	39.0					20																	35457524		2100	4227	6327	SO:0001583	missense	140710							g.chr20:35457524C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.290G>A	20.37:g.35457524C>T	ENSP00000350424:p.Arg97His					SOGA1_ENST00000357779.3_Missense_Mutation_p.R97H|SOGA1_ENST00000279034.5_Missense_Mutation_p.R97H	p.R335H	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			3	1345	-			97					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1004G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.132383	0.94473	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000357779	T;T;T	0.27890	1.64;1.78;1.81	4.53	4.53	0.55603	.	0.143240	0.45361	D	0.000370	T	0.55862	0.1947	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58769	-0.7578	10	0.49607	T	0.09	-32.9112	16.1985	0.82046	0.0:1.0:0.0:0.0	.	97	O94964-4	.	H	335;97;97	ENSP00000237536:R335H;ENSP00000279034:R97H;ENSP00000350424:R97H	ENSP00000237536:R335H	R	-	2	0	KIAA0889	34890938	1.000000	0.71417	0.995000	0.50966	0.667000	0.39255	5.772000	0.68889	2.330000	0.79161	0.650000	0.86243	CGT		0.612	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		5	37	0	0	0	1	0	5	37				
ATP10B	23120	broad.mit.edu	37	5	160063213	160063213	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160063213G>T	ENST00000327245.5	-	11	1950	c.1104C>A	c.(1102-1104)ttC>ttA	p.F368L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	368					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTGAGGAACATGTAGA	0.488																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1102-1104)ttC>ttA		ATPase, class V, type 10B							69.0	69.0	69.0					5																	160063213		1900	4119	6019	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160063213G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1104C>A	5.37:g.160063213G>T	ENSP00000313600:p.Phe368Leu					CTC-348L5.1_ENST00000523598.1_RNA	p.F368L	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1950	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	368					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1104C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372293	0.82573	.	.	ENSG00000118322	ENST00000327245	D	0.87966	-2.32	5.18	0.379	0.16213	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.69185	2.1	0.58432	D	0.999991	D;P;D;D	0.89917	1.0;0.914;1.0;0.999	D;P;D;D	0.97110	1.0;0.868;0.999;0.996	D	0.87226	0.2257	9	.	.	.	.	8.8292	0.35074	0.485:0.0:0.515:0.0	.	412;368;340;368	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	L	368	ENSP00000313600:F368L	.	F	-	3	2	ATP10B	159995791	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.951000	0.40333	0.208000	0.20626	0.555000	0.69702	TTC		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		54	234	1	0	2.47907e-22	1	2.80423e-22	54	234				
KMT2C	58508	broad.mit.edu	37	7	151970792	151970792	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151970792C>A	ENST00000262189.6	-	7	1228	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	KMT2C_ENST00000355193.2_Missense_Mutation_p.R337I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	337					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAACTTACATCTTTCAGGAGC	0.373																																						ENST00000355193.2																			0											c.(1009-1011)aGa>aTa		lysine (K)-specific methyltransferase 2C							238.0	217.0	224.0					7																	151970792		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970792C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1010G>T	7.37:g.151970792C>A	ENSP00000262189:p.Arg337Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.R337I	p.R337I							7	1228	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1010G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316261	0.40996	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98807	-5.15;-5.15	4.78	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45606	U	0.000354	D	0.97170	0.9075	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.53912	0.737	D	0.96209	0.9151	10	0.17832	T	0.49	.	18.1678	0.89734	0.0:1.0:0.0:0.0	.	337	Q8NEZ4	MLL3_HUMAN	I	337	ENSP00000262189:R337I;ENSP00000347325:R337I	ENSP00000262189:R337I	R	-	2	0	MLL3	151601725	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.685000	0.61693	2.375000	0.81037	0.585000	0.79938	AGA		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			34	1114	1	0	1.37878e-21	1	1.55502e-21	34	1114				
UBP1	7342	broad.mit.edu	37	3	33444367	33444367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33444367G>A	ENST00000283629.3	-	9	1486	c.957C>T	c.(955-957)gcC>gcT	p.A319A	UBP1_ENST00000447368.2_Silent_p.A283A|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Silent_p.A319A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	319					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TATTCACATAGGCTGTGGGGG	0.458																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(955-957)gcC>gcT		upstream binding protein 1 (LBP-1a)							78.0	65.0	70.0					3																	33444367		2203	4300	6503	SO:0001819	synonymous_variant	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33444367G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.957C>T	3.37:g.33444367G>A						UBP1_ENST00000447368.2_Silent_p.A283A|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Silent_p.A319A	p.A319A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			9	1486	-			319					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	c.957C>T	CCDS2659.1																																																																																				0.458	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		8	84	0	0	0	1	0	8	84				
MITF	4286	broad.mit.edu	37	3	70014281	70014281	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014281A>G	ENST00000448226.2	+	10	1590	c.1463A>G	c.(1462-1464)gAc>gGc	p.D488G	MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000352241.4_Missense_Mutation_p.D482G|MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	488					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGATGGACGACACCCTTTCT	0.532			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(1444-1446)gAc>gGc		microphthalmia-associated transcription factor							146.0	125.0	132.0					3																	70014281		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70014281A>G		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1463A>G	3.37:g.70014281A>G	ENSP00000391803:p.Asp488Gly					MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G|MITF_ENST00000448226.2_Missense_Mutation_p.D488G	p.D482G	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	10	1608	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	488					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.1445A>G		.	.	.	.	.	.	.	.	.	.	A	17.25	3.341746	0.61073	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.84585	2.705	0.58432	D	0.999997	D;D;D;D;D;D;P	0.60575	0.988;0.969;0.969;0.968;0.968;0.968;0.936	D;P;P;P;P;P;P	0.62955	0.909;0.688;0.688;0.734;0.734;0.853;0.693	D	0.86112	0.1563	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	430;381;375;457;466;481;482	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	G	482;488;430;481;466;457;375;381;319	ENSP00000295600:D482G;ENSP00000391803:D488G;ENSP00000418845:D430G;ENSP00000327867:D481G;ENSP00000324443:D466G;ENSP00000377884:D457G;ENSP00000324246:D375G;ENSP00000377880:D381G;ENSP00000435909:D319G	.	D	+	2	0	MITF	70096971	1.000000	0.71417	0.909000	0.35828	0.415000	0.31203	6.073000	0.71245	2.371000	0.80710	0.533000	0.62120	GAC		0.532	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		74	285	0	0	0	1	0	74	285				
BCLAF1	9774	broad.mit.edu	37	6	136593153	136593153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136593153A>C	ENST00000531224.1	-	8	2275	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V|BCLAF1_ENST00000529917.1_5'Flank|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	675					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTCTTTAAAAACTCTCTCT	0.303																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2023-2025)Ttt>Gtt		BCL2-associated transcription factor 1							77.0	78.0	78.0					6																	136593153		2203	4296	6499	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136593153A>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2023T>G	6.37:g.136593153A>C	ENSP00000435210:p.Phe675Val					BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V	p.F675V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	8	2275	-	Colorectal(23;0.24)		675					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2023T>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280241	0.59758	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000006	T	0.02807	0.0084	N	0.08118	0	0.80722	D	1	P;B;P;B	0.34587	0.458;0.264;0.458;0.244	B;B;B;B	0.39119	0.291;0.069;0.291;0.056	T	0.42982	-0.9419	10	0.11794	T	0.64	-9.1069	10.344	0.43895	0.8534:0.0:0.0:0.1466	.	673;673;675;502	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	675;673;675;502;673;673;674	ENSP00000435210:F675V;ENSP00000229446:F673V;ENSP00000435441:F675V;ENSP00000436501:F502V;ENSP00000434826:F673V;ENSP00000376159:F673V;ENSP00000431734:F674V	ENSP00000229446:F673V	F	-	1	0	BCLAF1	136634846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.945000	0.63568	2.025000	0.59659	0.482000	0.46254	TTT		0.303	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		39	319	0	0	0	1	0	39	319				
OTOA	146183	broad.mit.edu	37	16	21739636	21739636	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21739636C>T	ENST00000286149.4	+	19	2134	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	OTOA_ENST00000388958.3_Silent_p.I697I|OTOA_ENST00000388957.3_Silent_p.I373I|OTOA_ENST00000388956.4_Silent_p.I618I			Q7RTW8	OTOAN_HUMAN	otoancorin	711					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGCCATCATCGACAGGGGGA	0.582																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(2089-2091)atC>atT		otoancorin							97.0	84.0	88.0					16																	21739636		2198	4300	6498	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21739636C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2133C>T	16.37:g.21739636C>T						OTOA_ENST00000388956.4_Silent_p.I618I|OTOA_ENST00000286149.4_Silent_p.I711I|OTOA_ENST00000388957.3_Silent_p.I373I	p.I697I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	19	2092	+			711					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.2091C>T																																																																																					0.582	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			32	468	0	0	0	1	0	32	468				
CAPN1	823	broad.mit.edu	37	11	64981653	64981653	+	IGR	SNP	G	G	A	rs371972039	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64981653G>A	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CATCCCGGGCGCGGCCACGGA	0.682													G|||	5	0.000998403	0.0	0.0	5008	,	,		15156	0.0		0.0	False		,,,				2504	0.0051					ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8										G	THR/ALA	1,3775		0,1,1887	7.0	8.0	8.0		310	-1.4	0.0	11		8	1,8151		0,1,4075	no	missense	SLC22A20	NM_001004326.4	58	0,2,5962	AA,AG,GG		0.0123,0.0265,0.0168	benign	104/350	64981653	2,11926	1888	4076	5964	SO:0001628	intergenic_variant	0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64981653G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981653G>A										A6NK97	S22AK_HUMAN			0	343	+								Q2TTR0|Q6DHV4	RNA	SNP	ENST00000527323.1	37		CCDS44644.1																																																																																				0.682	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			13	41	0	0	0	1	0	13	41				
AKAP9	10142	broad.mit.edu	37	7	91690610	91690610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91690610C>T	ENST00000359028.2	+	24	5899	c.5674C>T	c.(5674-5676)Cgt>Tgt	p.R1892C	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1892C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1880C|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1892	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAGTTGATGCGTGAGTCATT	0.428			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5674-5676)Cgt>Tgt		A kinase (PRKA) anchor protein 9							91.0	89.0	90.0					7																	91690610		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91690610C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5674C>T	7.37:g.91690610C>T	ENSP00000351922:p.Arg1892Cys					AKAP9_ENST00000356239.3_Missense_Mutation_p.R1880C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1892C|AKAP9_ENST00000491695.1_3'UTR	p.R1892C			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		24	5899	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1892			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5674C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.067357	0.76301	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03920	3.77;3.77;3.76	5.69	5.69	0.88448	.	0.000000	0.40144	N	0.001172	T	0.23014	0.0556	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.66847	0.886;0.947;0.947	T	0.00040	-1.2237	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	1892;1880;1880	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	C	1880;1892;1892;1892;95	ENSP00000348573:R1880C;ENSP00000351922:R1892C;ENSP00000350813:R1892C	ENSP00000265737:R95C	R	+	1	0	AKAP9	91528546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.271000	0.58902	2.840000	0.97914	0.655000	0.94253	CGT		0.428	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	434	0	0	0	1	0	11	434				
COL27A1	85301	broad.mit.edu	37	9	117069983	117069983	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117069983C>A	ENST00000356083.3	+	59	5533	c.5142C>A	c.(5140-5142)tcC>tcA	p.S1714S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1714	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGCTGCTCCTCTGACACCA	0.567																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5140-5142)tcC>tcA		collagen, type XXVII, alpha 1							235.0	177.0	197.0					9																	117069983		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117069983C>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5142C>A	9.37:g.117069983C>A							p.S1714S	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			59	5533	+			1714			Fibrillar collagen NC1.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.5142C>A	CCDS6802.1																																																																																				0.567	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		84	385	1	0	2.01383e-38	1	2.42724e-38	84	385				
AKAP3	10566	broad.mit.edu	37	12	4737071	4737071	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4737071G>T	ENST00000545990.2	-	5	1521	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	333					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GAGTCGATGAGATCCGAGACC	0.483																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(997-999)Ctc>Atc		A kinase (PRKA) anchor protein 3							168.0	156.0	160.0					12																	4737071		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737071G>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.997C>A	12.37:g.4737071G>T	ENSP00000440994:p.Leu333Ile					AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I	p.L333I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	1521	-			333					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.997C>A	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122344	0.77436	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.14516	2.5;2.5	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000031	T	0.40862	0.1134	M	0.78801	2.425	0.36442	D	0.865521	D	0.76494	0.999	D	0.85130	0.997	T	0.45789	-0.9237	10	0.87932	D	0	-20.967	17.0413	0.86490	0.0:0.0:1.0:0.0	.	333	O75969	AKAP3_HUMAN	I	333	ENSP00000228850:L333I;ENSP00000440994:L333I	ENSP00000228850:L333I	L	-	1	0	AKAP3	4607332	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	3.569000	0.53827	2.828000	0.97474	0.655000	0.94253	CTC		0.483	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		42	242	1	0	1.07121e-22	1	1.21384e-22	42	242				
SLC11A2	4891	broad.mit.edu	37	12	51390647	51390647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390647C>T	ENST00000262051.7	-	9	871	c.784G>A	c.(784-786)Gct>Act	p.A262T	SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T|SLC11A2_ENST00000394904.3_Missense_Mutation_p.A291T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	262					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGATGACAGCTCCCACGATG	0.522																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(871-873)Gct>Act		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							227.0	147.0	174.0					12																	51390647		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51390647C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.784G>A	12.37:g.51390647C>T	ENSP00000262051:p.Ala262Thr					SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T|SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000262051.7_Missense_Mutation_p.A262T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T	p.A291T	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			9	920	-			262					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.871G>A	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	C	36	5.819946	0.96989	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	H	0.99425	4.56	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	0.91635	0.998;0.998;0.998;0.998;0.999;0.999	D	0.95025	0.8164	10	0.87932	D	0	-14.8869	18.8085	0.92048	0.0:1.0:0.0:0.0	.	225;258;291;262;111;262	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	T	262;262;262;291;291;262;258;183	ENSP00000262051:A262T;ENSP00000446769:A262T;ENSP00000262052:A262T;ENSP00000378364:A291T;ENSP00000449200:A291T;ENSP00000444542:A262T;ENSP00000442810:A258T;ENSP00000446914:A183T	ENSP00000262051:A262T	A	-	1	0	SLC11A2	49676914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.492000	0.81482	2.734000	0.93682	0.655000	0.94253	GCT		0.522	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			51	248	0	0	0	1	0	51	248				
FOXG1	2290	broad.mit.edu	37	14	29236593	29236593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236593C>T	ENST00000313071.4	+	1	307	c.108C>T	c.(106-108)agC>agT	p.S36S	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Silent_p.S36S|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	36	His-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCACGCGAGCCACGGccacc	0.667																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(106-108)agC>agT		forkhead box G1							37.0	39.0	38.0					14																	29236593		2111	4165	6276	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29236593C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.108C>T	14.37:g.29236593C>T						FOXG1_ENST00000313071.4_Silent_p.S36S	p.S36S			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	477	+			36			His-rich.		A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.108C>T	CCDS9636.1																																																																																				0.667	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			14	48	0	0	0	1	0	14	48				
PRDM4	11108	broad.mit.edu	37	12	108145246	108145246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108145246G>A	ENST00000228437.5	-	5	1531	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	358					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTTCCATTTGCAGTGAAGGT	0.413																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1072-1074)Caa>Taa		PR domain containing 4							108.0	83.0	92.0					12																	108145246		2203	4300	6503	SO:0001587	stop_gained	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145246G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1072C>T	12.37:g.108145246G>A	ENSP00000228437:p.Gln358*					RP11-864J10.4_ENST00000546714.1_RNA	p.Q358*	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			5	1531	-			358					Q9UFA6	Nonsense_Mutation	SNP	ENST00000228437.5	37	c.1072C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533768	0.96460	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	.	.	.	5.77	5.77	0.91146	.	0.052480	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	358;103	.	ENSP00000228437:Q358X	Q	-	1	0	PRDM4	106669376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.885000	0.99019	0.655000	0.94253	CAA		0.413	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		22	317	0	0	0	1	0	22	317				
CLIP4	79745	broad.mit.edu	37	2	29356571	29356571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29356571G>A	ENST00000320081.5	+	5	673	c.418G>A	c.(418-420)Gca>Aca	p.A140T	CLIP4_ENST00000404424.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	140										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACCTGGGAGCAGACATTAG	0.358																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(418-420)Gca>Aca		CAP-GLY domain containing linker protein family, member 4							111.0	105.0	107.0					2																	29356571		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29356571G>A	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.418G>A	2.37:g.29356571G>A	ENSP00000327009:p.Ala140Thr					CLIP4_ENST00000404424.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T	p.A140T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			5	673	+	Acute lymphoblastic leukemia(172;0.155)		140					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.418G>A	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454407	0.84209	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000438819;ENST00000530644	T;T;T;T;T;T	0.70869	0.07;-0.52;0.07;0.07;0.07;0.07	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.051964	0.85682	D	0.000000	T	0.80549	0.4644	M	0.76328	2.33	0.80722	D	1	P;P	0.50528	0.936;0.84	P;P	0.51945	0.685;0.596	T	0.82924	-0.0216	10	0.87932	D	0	.	19.5055	0.95113	0.0:0.0:1.0:0.0	.	140;140	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	T	140;33;140;140;140;141;140;33;122	ENSP00000384242:A140T;ENSP00000385148:A33T;ENSP00000385594:A140T;ENSP00000327009:A140T;ENSP00000393354:A140T;ENSP00000392296:A33T	ENSP00000327009:A140T	A	+	1	0	CLIP4	29210075	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	9.799000	0.99117	2.604000	0.88044	0.650000	0.86243	GCA		0.358	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		9	268	0	0	0	1	0	9	268				
DNAH17	8632	broad.mit.edu	37	17	76498715	76498715	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76498715C>A	ENST00000585328.1	-	33	5263	c.5139G>T	c.(5137-5139)gaG>gaT	p.E1713D	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E1705D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1705	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAGCCTTCCTCCAGCCTGG	0.478																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5113-5115)gaG>gaT		dynein, axonemal, heavy chain 17							61.0	65.0	64.0					17																	76498715		2033	4223	6256	SO:0001583	missense	8632							g.chr17:76498715C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5139G>T	17.37:g.76498715C>A	ENSP00000465516:p.Glu1713Asp					DNAH17_ENST00000585328.1_Missense_Mutation_p.E1713D|DNAH17-AS1_ENST00000598378.1_3'UTR	p.E1705D					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		33	5239	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5115G>T		.	.	.	.	.	.	.	.	.	.	C	15.65	2.897077	0.52121	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.27557	1.66	5.5	3.15	0.36227	.	.	.	.	.	T	0.48187	0.1486	M	0.83223	2.63	0.33228	D	0.55551	.	.	.	.	.	.	T	0.62765	-0.6785	7	0.54805	T	0.06	.	9.4777	0.38882	0.0:0.7015:0.0:0.2985	.	.	.	.	D	1713;1705	ENSP00000374490:E1705D	ENSP00000300671:E1713D	E	-	3	2	DNAH17	74010310	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.856000	0.39389	1.299000	0.44798	0.448000	0.29417	GAG		0.478	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		30	127	1	0	1.32181e-22	1	1.49747e-22	30	127				
ZNF366	167465	broad.mit.edu	37	5	71739689	71739689	+	Missense_Mutation	SNP	C	C	T	rs372282294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71739689C>T	ENST00000318442.5	-	5	2619	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	710	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAGGGGCCCCGCCGGGTACT	0.502																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(2128-2130)cGg>cAg		zinc finger protein 366		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	79.0	76.0		2129	2.7	1.0	5		76	0,8600		0,0,4300	no	missense	ZNF366	NM_152625.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	710/745	71739689	1,13005	2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739689C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2129G>A	5.37:g.71739689C>T	ENSP00000313158:p.Arg710Gln						p.R710Q	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2619	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	710					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.2129G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410426	0.42715	2.27E-4	0.0	ENSG00000178175	ENST00000318442	T	0.08282	3.11	5.87	2.65	0.31530	.	0.195578	0.35407	N	0.003234	T	0.04003	0.0112	N	0.12182	0.205	0.22940	N	0.998537	B	0.20052	0.041	B	0.08055	0.003	T	0.41770	-0.9490	10	0.24483	T	0.36	-27.7783	6.7823	0.23652	0.4795:0.4319:0.0:0.0886	.	710	Q8N895	ZN366_HUMAN	Q	710	ENSP00000313158:R710Q	ENSP00000313158:R710Q	R	-	2	0	ZNF366	71775445	0.053000	0.20554	0.969000	0.41365	0.938000	0.57974	0.801000	0.27055	0.905000	0.36596	0.655000	0.94253	CGG		0.502	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			27	742	0	0	0	1	0	27	742				
ZNF354A	6940	broad.mit.edu	37	5	178139061	178139061	+	Nonstop_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139061C>A	ENST00000335815.2	-	5	2015	c.1818G>T	c.(1816-1818)taG>taT	p.*606Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	0					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AATCTACTTTCTAGGGGTCCT	0.348																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(1816-1818)taG>taT		zinc finger protein 354A							59.0	62.0	61.0					5																	178139061		2202	4298	6500	SO:0001578	stop_lost	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139061C>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1818G>T	5.37:g.178139061C>A							p.*606Y	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	2015	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	0					Q9UNJ8	Nonstop_Mutation	SNP	ENST00000335815.2	37	c.1818G>T	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.017445	0.00418	.	.	ENSG00000169131	ENST00000335815	.	.	.	4.28	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6622	0.17674	0.0:0.6309:0.1647:0.2043	.	.	.	.	Y	606	.	.	X	-	3	2	ZNF354A	178071667	.	.	0.380000	0.26093	0.014000	0.08584	.	.	0.542000	0.28846	-0.122000	0.15005	TAG		0.348	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		59	269	1	0	9.10829e-22	1	1.02804e-21	59	269				
OR2W5	441932	broad.mit.edu	37	1	247654784	247654784	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654784T>C	ENST00000522351.1	+	0	415							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTTGTCATGTCCCATGACCG	0.612																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															102.0	92.0	95.0					1																	247654784		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654784T>C			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654784T>C										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	415	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.612	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		150	381	0	0	0	1	0	150	381				
ALPK2	115701	broad.mit.edu	37	18	56184276	56184276	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56184276C>T	ENST00000361673.3	-	9	6017	c.5804G>A	c.(5803-5805)cGc>cAc	p.R1935H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1935	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTGTGCTGCGGAAGGCTTT	0.557																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5803-5805)cGc>cAc		alpha-kinase 2							151.0	132.0	139.0					18																	56184276		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56184276C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5804G>A	18.37:g.56184276C>T	ENSP00000354991:p.Arg1935His						p.R1935H	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			9	6017	-			1935			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5804G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873107	0.91664	.	.	ENSG00000198796	ENST00000361673	T	0.15372	2.43	5.75	5.75	0.90469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	T	0.41743	0.1172	L	0.56769	1.78	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.07271	-1.0781	10	0.59425	D	0.04	-17.7765	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1935	Q86TB3	ALPK2_HUMAN	H	1935	ENSP00000354991:R1935H	ENSP00000354991:R1935H	R	-	2	0	ALPK2	54335256	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.385000	0.79763	2.716000	0.92895	0.655000	0.94253	CGC		0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		49	467	0	0	0	1	0	49	467				
PRDM14	63978	broad.mit.edu	37	8	70978553	70978553	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70978553C>T	ENST00000276594.2	-	5	1301	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	367	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATAGCAGTCTCCATACCACAC	0.512																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1099-1101)gGa>gAa		PR domain containing 14							92.0	91.0	92.0					8																	70978553		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978553C>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1100G>A	8.37:g.70978553C>T	ENSP00000276594:p.Gly367Glu						p.G367E	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1301	-	Breast(64;0.193)		367			SET.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1100G>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899578	0.91962	.	.	ENSG00000147596	ENST00000276594	D	0.86627	-2.15	5.62	5.62	0.85841	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95552	0.8621	10	0.66056	D	0.02	-13.0938	19.6488	0.95793	0.0:1.0:0.0:0.0	.	367	Q9GZV8	PRD14_HUMAN	E	367	ENSP00000276594:G367E	ENSP00000276594:G367E	G	-	2	0	PRDM14	71141107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.481000	0.81124	2.637000	0.89404	0.561000	0.74099	GGA		0.512	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			83	318	0	0	0	1	0	83	318				
TDO2	6999	broad.mit.edu	37	4	156840997	156840997	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156840997A>G	ENST00000536354.2	+	12	1140	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		AGTGATAGGTACAAGGTATTT	0.303																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1075-1077)tAc>tGc		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						65.0	66.0	66.0					4																	156840997		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156840997A>G		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.1076A>G	4.37:g.156840997A>G	ENSP00000444788:p.Tyr359Cys						p.Y359C	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	12	1140	+	all_hematologic(180;0.24)	Renal(120;0.0854)	359						Missense_Mutation	SNP	ENST00000536354.2	37	c.1076A>G	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520340	0.64747	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88209	0.2889	9	0.87932	D	0	-20.8017	16.215	0.82206	1.0:0.0:0.0:0.0	.	359	P48775	T23O_HUMAN	C	359	.	ENSP00000281525:Y359C	Y	+	2	0	TDO2	157060447	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	8.768000	0.91737	2.288000	0.76882	0.533000	0.62120	TAC		0.303	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		20	111	0	0	0	1	0	20	111				
EBF3	253738	broad.mit.edu	37	10	131666130	131666130	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131666130C>T	ENST00000355311.5	-	9	900	c.828G>A	c.(826-828)acG>acA	p.T276T	EBF3_ENST00000368648.3_Silent_p.T267T			Q9H4W6	COE3_HUMAN	early B-cell factor 3	276	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGGCACCCCCCGTGGTCCAGC	0.582																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(799-801)acG>acA		early B-cell factor 3							112.0	91.0	98.0					10																	131666130		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131666130C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.828G>A	10.37:g.131666130C>T						EBF3_ENST00000355311.5_Silent_p.T276T	p.T267T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	9	873	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	276			IPT/TIG.		A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.801G>A																																																																																					0.582	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		58	265	0	0	0	1	0	58	265				
TTN	7273	broad.mit.edu	37	2	179613691	179613691	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179613691C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R4479K			Q8WZ42	TITIN_HUMAN	titin						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)			AATTGATGTTCTGGTAGGTCT	0.333																																						ENST00000360870.5																			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.(13435-13437)aGa>aAa		titin							87.0	89.0	88.0					2																	179613691		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613691C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4159G>A	2.37:g.179613691C>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.R4479K	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13658	-			609			Ig-like 25.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.13436G>A		.	.	.	.	.	.	.	.	.	.	C	1.645	-0.515402	0.04200	.	.	ENSG00000155657	ENST00000360870	T	0.54279	0.58	6.04	-0.195	0.13236	.	.	.	.	.	T	0.24774	0.0601	N	0.04508	-0.205	0.19575	N	0.999964	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	9	0.02654	T	1	.	12.2414	0.54544	0.0:0.2961:0.0:0.7039	.	4479	Q8WZ42-6	.	K	4479	ENSP00000354117:R4479K	ENSP00000354117:R4479K	R	-	2	0	TTN	179321936	0.068000	0.21057	0.269000	0.24586	0.141000	0.21300	0.383000	0.20651	-0.219000	0.10003	-0.251000	0.11542	AGA		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	320	0	0	0	1	0	64	320				
NTMT1	28989	broad.mit.edu	37	9	132395137	132395137	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132395137T>G	ENST00000372486.1	+	2	504	c.155T>G	c.(154-156)tTt>tGt	p.F52C	NTMT1_ENST00000372483.4_Missense_Mutation_p.F52C|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000459968.2_Missense_Mutation_p.F52C|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Missense_Mutation_p.F52C|NTMT1_ENST00000372481.3_Missense_Mutation_p.F52C			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	52					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										CTGCAGAGGTTTTTGAGGGTA	0.567																																						ENST00000372486.1																			0											c.(154-156)tTt>tGt		N-terminal Xaa-Pro-Lys N-methyltransferase 1							119.0	115.0	116.0					9																	132395137		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132395137T>G	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.155T>G	9.37:g.132395137T>G	ENSP00000361564:p.Phe52Cys					NTMT1_ENST00000372481.3_Missense_Mutation_p.F52C|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Missense_Mutation_p.F52C|NTMT1_ENST00000372483.4_Missense_Mutation_p.F52C|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000459968.2_Missense_Mutation_p.F52C	p.F52C							2	504	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.155T>G	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462484	0.84425	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.60895	-0.7172	10	0.72032	D	0.01	-0.8808	13.8086	0.63248	0.0:0.0:0.0:1.0	.	52;52	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	C	52	ENSP00000361564:F52C;ENSP00000361561:F52C;ENSP00000361559:F52C;ENSP00000361558:F52C	ENSP00000361558:F52C	F	+	2	0	METTL11A	131434958	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	7.904000	0.87408	1.954000	0.56735	0.459000	0.35465	TTT		0.567	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		127	504	0	0	0	1	0	127	504				
RPL7A	6130	broad.mit.edu	37	9	136218201	136218201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136218201C>T	ENST00000323345.6	+	8	811	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	SNORD36B_ENST00000363961.1_RNA|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F|SNORD36C_ENST00000516733.1_RNA|SNORD36A_ENST00000362874.1_RNA|SNORD24_ENST00000383884.1_RNA|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	261					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GGCTAAAGAACTTGCCACTAA	0.418																																						ENST00000323345.6																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(781-783)Ctt>Ttt		ribosomal protein L7a							39.0	39.0	39.0					9																	136218201		2203	4296	6499	SO:0001583	missense	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136218201C>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.781C>T	9.37:g.136218201C>T	ENSP00000361076:p.Leu261Phe					RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F|RPL7A_ENST00000463740.1_3'UTR	p.L261F	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	8	811	+			261					P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	37	c.781C>T	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351939	0.41700	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.66638	0.33;-0.22	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.87097	2.86	0.80722	D	1	B	0.33280	0.405	B	0.36289	0.221	T	0.78445	-0.2201	10	0.62326	D	0.03	.	17.5815	0.87970	0.0:1.0:0.0:0.0	.	261	P62424	RL7A_HUMAN	F	261;146	ENSP00000361076:L261F;ENSP00000361071:L146F	ENSP00000361071:L146F	L	+	1	0	RPL7A	135208022	1.000000	0.71417	0.983000	0.44433	0.061000	0.15899	7.166000	0.77553	2.400000	0.81607	0.561000	0.74099	CTT		0.418	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		27	106	0	0	0	1	0	27	106				
AFAP1L1	134265	broad.mit.edu	37	5	148679100	148679100	+	Silent	SNP	C	C	T	rs199577925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148679100C>T	ENST00000296721.4	+	2	143	c.45C>T	c.(43-45)acC>acT	p.T15T	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.T15T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	15						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTCACCGGGCTGCTCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17790	0.0		0.001	False		,,,				2504	0.0					ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(43-45)acC>acT		actin filament associated protein 1-like 1		C	,	1,4405	2.1+/-5.4	0,1,2202	59.0	56.0	57.0		45,45	-9.3	0.0	5	dbSNP_132	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFAP1L1	NM_001146337.1,NM_152406.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	15/726,15/769	148679100	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148679100C>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.45C>T	5.37:g.148679100C>T						AFAP1L1_ENST00000515000.1_Silent_p.T15T|AFAP1L1_ENST00000522492.1_3'UTR	p.T15T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	143	+			15					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.45C>T	CCDS34274.1																																																																																				0.652	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		42	281	0	0	0	1	0	42	281				
AGT	183	broad.mit.edu	37	1	230846565	230846565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230846565G>T	ENST00000366667.4	-	2	246	c.32C>A	c.(31-33)gCt>gAt	p.A11D	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACCGGCAGGAGCCATCTCAGA	0.567																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(31-33)gCt>gAt		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						44.0	44.0	44.0					1																	230846565		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846565G>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.32C>A	1.37:g.230846565G>T	ENSP00000355627:p.Ala11Asp					RP11-99J16__A.2_ENST00000412344.1_RNA	p.A11D	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	246	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	11					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.32C>A	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009170	0.35415	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.82167	-1.58	5.37	0.101	0.14517	.	1.311970	0.05099	N	0.486836	T	0.76033	0.3931	L	0.51422	1.61	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.09377	0.002;0.004;0.002	T	0.58741	-0.7583	10	0.72032	D	0.01	.	1.6063	0.02684	0.2446:0.156:0.4607:0.1388	.	11;11;11	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	D	11	ENSP00000355627:A11D	ENSP00000355627:A11D	A	-	2	0	AGT	228913188	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.032000	0.13732	-0.157000	0.11059	-0.310000	0.09108	GCT		0.567	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		16	388	1	0	9.16793e-09	1	9.60025e-09	16	388				
RBMXL2	27288	broad.mit.edu	37	11	7110430	7110430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7110430G>A	ENST00000306904.5	+	1	266	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	27	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTCGAAGCCGAGTTTGGCAA	0.587																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(79-81)Gag>Aag		RNA binding motif protein, X-linked-like 2							41.0	43.0	42.0					11																	7110430		2201	4296	6497	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110430G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.79G>A	11.37:g.7110430G>A	ENSP00000304139:p.Glu27Lys						p.E27K	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	266	+			27			RRM.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.79G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	9.776	1.174042	0.21704	.	.	ENSG00000170748	ENST00000306904	D	0.85629	-2.01	2.39	1.41	0.22369	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.871484	0.09940	U	0.736117	T	0.69833	0.3155	N	0.11106	0.095	0.09310	N	1	P	0.42973	0.796	B	0.39217	0.294	T	0.61237	-0.7103	10	0.59425	D	0.04	.	6.7648	0.23560	0.1649:0.0:0.8351:0.0	.	27	O75526	HNRGT_HUMAN	K	27	ENSP00000304139:E27K	ENSP00000304139:E27K	E	+	1	0	RBMXL2	7067006	0.420000	0.25457	0.048000	0.18961	0.842000	0.47809	2.859000	0.48364	0.499000	0.27970	0.455000	0.32223	GAG		0.587	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		5	124	0	0	0	1	0	5	124				
NEURL2	140825	broad.mit.edu	37	20	44519145	44519145	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44519145G>A	ENST00000372518.4	-	1	781	c.486C>T	c.(484-486)cgC>cgT	p.R162R	CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372459.2_5'Flank|SPATA25_ENST00000372519.3_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	162	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTGGCCGGCTGCGGCCCACCA	0.667																																						ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(484-486)cgC>cgT		neuralized E3 ubiquitin protein ligase 2							34.0	41.0	39.0					20																	44519145		2202	4294	6496	SO:0001819	synonymous_variant	140825				intracellular signal transduction			g.chr20:44519145G>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.486C>T	20.37:g.44519145G>A							p.R162R	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			1	781	-		Myeloproliferative disorder(115;0.0122)	162			NHR.		Q3KR34	Silent	SNP	ENST00000372518.4	37	c.486C>T	CCDS13384.1																																																																																				0.667	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			96	415	0	0	0	1	0	96	415				
PIAS1	8554	broad.mit.edu	37	15	68479934	68479934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479934G>T	ENST00000249636.6	+	14	1865	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	PIAS1_ENST00000545237.1_Missense_Mutation_p.D575Y	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	573	4 X 4 AA repeats of N-T-S-L.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AGATGATCAAGACCTCCTACA	0.463																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1723-1725)Gac>Tac		protein inhibitor of activated STAT, 1							88.0	86.0	87.0					15																	68479934		1914	4118	6032	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68479934G>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1717G>T	15.37:g.68479934G>T	ENSP00000249636:p.Asp573Tyr					PIAS1_ENST00000249636.6_Missense_Mutation_p.D573Y	p.D575Y			O75925	PIAS1_HUMAN			15	2464	+			573			4 X 4 AA repeats of N-T-S-L.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1723G>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831959	0.91036	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.36878	1.24;1.23	5.85	5.85	0.93711	.	0.134217	0.64402	D	0.000002	T	0.40372	0.1114	L	0.53249	1.67	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.19484	-1.0304	10	0.87932	D	0	-7.6537	20.1731	0.98165	0.0:0.0:1.0:0.0	.	573	O75925	PIAS1_HUMAN	Y	573;575	ENSP00000249636:D573Y;ENSP00000438574:D575Y	ENSP00000249636:D573Y	D	+	1	0	PIAS1	66266988	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	9.122000	0.94380	2.768000	0.95171	0.655000	0.94253	GAC		0.463	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			70	338	1	0	2.54232e-27	1	2.94239e-27	70	338				
CLEC14A	161198	broad.mit.edu	37	14	38724491	38724491	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724491C>T	ENST00000342213.2	-	1	1083	c.737G>A	c.(736-738)tGc>tAc	p.C246Y		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	246	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCTCCCGGGGCAGGGACACAA	0.617																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(736-738)tGc>tAc		C-type lectin domain family 14, member A							116.0	126.0	122.0					14																	38724491		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724491C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.737G>A	14.37:g.38724491C>T	ENSP00000353013:p.Cys246Tyr						p.C246Y	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1083	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		246			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.737G>A	CCDS9667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.055092|3.055092	0.55325|0.55325	.|.	.|.	ENSG00000176435|ENSG00000176435	ENST00000546356|ENST00000342213	.|T	.|0.75154	.|-0.91	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Epidermal growth factor-like (1);	.|0.191682	.|0.33364	.|N	.|0.004986	.|T	.|0.78020	.|0.4218	L|L	0.32530|0.32530	0.975|0.975	0.39374|0.39374	D|D	0.966133|0.966133	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	.|T	.|0.80039	.|-0.1549	.|10	.|0.66056	.|D	.|0.02	.|-11.2729	11.6305|11.6305	0.51171|0.51171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246	.|Q86T13	.|CLC14_HUMAN	.|Y	-1|246	.|ENSP00000353013:C246Y	.|ENSP00000353013:C246Y	.|C	-|-	.|2	.|0	CLEC14A|CLEC14A	37794242|37794242	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.650000|0.650000	0.38633|0.38633	2.605000|2.605000	0.46283|0.46283	2.480000|2.480000	0.83734|0.83734	0.491000|0.491000	0.48974|0.48974	.|TGC		0.617	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		20	1461	0	0	0	1	0	20	1461				
PRKRIR	5612	broad.mit.edu	37	11	76063034	76063034	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063034A>C	ENST00000260045.3	-	5	1265	c.1160T>G	c.(1159-1161)gTt>gGt	p.V387G	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	387					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAAAGAACAAACTTCCTCAAT	0.383																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(1159-1161)gTt>gGt		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							51.0	49.0	50.0					11																	76063034		2198	4288	6486	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063034A>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1160T>G	11.37:g.76063034A>C	ENSP00000260045:p.Val387Gly						p.V387G	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1265	-			387					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1160T>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685370	0.68157	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.23754	1.89;1.89	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.275476	0.41938	D	0.000792	T	0.30262	0.0759	L	0.50333	1.59	0.80722	D	1	P	0.51791	0.948	P	0.45829	0.494	T	0.08764	-1.0706	10	0.59425	D	0.04	.	14.7428	0.69469	1.0:0.0:0.0:0.0	.	387	O43422	P52K_HUMAN	G	212;387	ENSP00000436249:V212G;ENSP00000260045:V387G	ENSP00000260045:V387G	V	-	2	0	PRKRIR	75740682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.649000	0.74364	1.956000	0.56807	0.524000	0.50904	GTT		0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		84	325	0	0	0	1	0	84	325				
KIAA1841	84542	broad.mit.edu	37	2	61344641	61344641	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61344641C>A	ENST00000402291.1	+	19	2146	c.1905C>A	c.(1903-1905)tcC>tcA	p.S635S	KIAA1841_ENST00000453873.1_Silent_p.S635S|KIAA1841_ENST00000356719.2_Silent_p.S635S|KIAA1841_ENST00000295031.5_Silent_p.S635S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	635										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACAAGATCCTTGAGATTCA	0.343																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1903-1905)tcC>tcA		KIAA1841							148.0	149.0	148.0					2																	61344641		2203	4300	6503	SO:0001819	synonymous_variant	84542							g.chr2:61344641C>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1905C>A	2.37:g.61344641C>A						KIAA1841_ENST00000295031.5_Silent_p.S635S|KIAA1841_ENST00000356719.2_Silent_p.S635S|KIAA1841_ENST00000453873.1_Silent_p.S635S	p.S635S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		19	2146	+			635					Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	37	c.1905C>A	CCDS46296.1																																																																																				0.343	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		70	346	1	0	3.58576e-35	1	4.27743e-35	70	346				
TTN	7273	broad.mit.edu	37	2	179444459	179444459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179444459C>T	ENST00000591111.1	-	269	62766	c.62542G>A	c.(62542-62544)Gat>Aat	p.D20848N	TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22489N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20848	Fibronectin type-III 51. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTCAGGAAATCAACTACATAT	0.413																																						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.(67465-67467)Gat>Aat		titin							113.0	105.0	107.0					2																	179444459		1901	4115	6016	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444459C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62542G>A	2.37:g.179444459C>T	ENSP00000465570:p.Asp20848Asn					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20848N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.D22489N	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)		319	67689	-			20848			Fibronectin type-III 63.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.67465G>A		.	.	.	.	.	.	.	.	.	.	C	15.41	2.826684	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.38	5.38	0.77491	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62344	0.2420	L	0.39898	1.24	0.54753	D	0.999988	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.56278	0.739;0.739;0.739;0.795	T	0.64575	-0.6375	9	0.87932	D	0	.	19.4705	0.94961	0.0:1.0:0.0:0.0	.	13424;13549;13616;20848	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19921;13424;13616;13549;13422	ENSP00000343764:D19921N;ENSP00000434586:D13424N;ENSP00000340554:D13616N;ENSP00000352154:D13549N	ENSP00000340554:D13616N	D	-	1	0	TTN	179152705	1.000000	0.71417	0.981000	0.43875	0.862000	0.49288	7.729000	0.84864	2.666000	0.90696	0.462000	0.41574	GAT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	368	0	0	0	1	0	47	368				
FBXO5	26271	broad.mit.edu	37	6	153296711	153296711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296711T>C	ENST00000229758.3	-	2	207	c.149A>G	c.(148-150)gAt>gGt	p.D50G	FBXO5_ENST00000367241.3_Missense_Mutation_p.D4G|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		ACAATTAAAATCACACTTCAT	0.353																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(10-12)gAt>gGt		F-box protein 5							69.0	73.0	72.0					6																	153296711		2201	4298	6499	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153296711T>C	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.149A>G	6.37:g.153296711T>C	ENSP00000229758:p.Asp50Gly					FBXO5_ENST00000229758.3_Missense_Mutation_p.D50G	p.D4G	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	2	391	-		Ovarian(120;0.125)	50					B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.11A>G	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341237	0.60963	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.48836	0.8;0.93	5.4	1.63	0.23807	.	0.275036	0.33650	N	0.004693	T	0.18002	0.0432	L	0.56769	1.78	0.25130	N	0.990574	B	0.17667	0.023	B	0.14578	0.011	T	0.24440	-1.0160	10	0.33940	T	0.23	-9.9826	5.0346	0.14428	0.0:0.2207:0.1443:0.635	.	50	Q9UKT4	FBX5_HUMAN	G	50;4	ENSP00000229758:D50G;ENSP00000356210:D4G	ENSP00000229758:D50G	D	-	2	0	FBXO5	153338404	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	1.468000	0.35332	0.045000	0.15804	0.533000	0.62120	GAT		0.353	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			77	299	0	0	0	1	0	77	299				
OBSCN	84033	broad.mit.edu	37	1	228550349	228550349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228550349G>A	ENST00000422127.1	+	80	18778	c.18734G>A	c.(18733-18735)gGc>gAc	p.G6245D	OBSCN_ENST00000570156.2_Missense_Mutation_p.G7202D|OBSCN_ENST00000366707.4_Missense_Mutation_p.G3879D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6245					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGCGCCAGGCCCCTCCACA	0.677																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(21604-21606)gGc>gAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							30.0	33.0	32.0					1																	228550349		1896	4116	6012	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228550349G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18734G>A	1.37:g.228550349G>A	ENSP00000409493:p.Gly6245Asp					OBSCN_ENST00000422127.1_Missense_Mutation_p.G6245D|OBSCN_ENST00000366707.4_Missense_Mutation_p.G3879D	p.G7202D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			91	21679	+		Prostate(94;0.0405)	6245					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.21605G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147125	0.37923	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62941	-0.01;0.07	4.06	2.17	0.27698	.	0.329473	0.31601	N	0.007373	T	0.40040	0.1101	L	0.27053	0.805	0.09310	N	0.999999	B	0.14012	0.009	B	0.10450	0.005	T	0.15435	-1.0437	10	0.11794	T	0.64	.	5.6793	0.17765	0.3585:0.0:0.6415:0.0	.	6245	Q5VST9	OBSCN_HUMAN	D	6245;3879	ENSP00000409493:G6245D;ENSP00000355668:G3879D	ENSP00000355668:G3879D	G	+	2	0	OBSCN	226616972	0.003000	0.15002	0.009000	0.14445	0.030000	0.12068	0.752000	0.26362	0.494000	0.27859	0.491000	0.48974	GGC		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	201	0	0	0	1	0	6	201				
IWS1	55677	broad.mit.edu	37	2	128252466	128252466	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128252466A>G	ENST00000295321.4	-	8	2040	c.1781T>C	c.(1780-1782)gTa>gCa	p.V594A	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	594	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTGCATAACTACAGCAGGCAG	0.284																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1780-1782)gTa>gCa		IWS1 homolog (S. cerevisiae)							77.0	84.0	81.0					2																	128252466		2201	4287	6488	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128252466A>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1781T>C	2.37:g.128252466A>G	ENSP00000295321:p.Val594Ala					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	p.V594A	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	8	2040	-	Colorectal(110;0.1)		594					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1781T>C	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198746	0.79015	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.18016	2.24	5.82	5.82	0.92795	.	0.118708	0.56097	D	0.000027	T	0.38188	0.1031	M	0.71036	2.16	0.80722	D	1	P	0.51537	0.946	P	0.57720	0.826	T	0.11372	-1.0590	10	0.59425	D	0.04	-19.5794	16.1809	0.81898	1.0:0.0:0.0:0.0	.	594	Q96ST2	IWS1_HUMAN	A	594;547	ENSP00000295321:V594A	ENSP00000295321:V594A	V	-	2	0	IWS1	127968936	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.281000	0.95811	2.229000	0.72834	0.383000	0.25322	GTA		0.284	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		34	266	0	0	0	1	0	34	266				
ST8SIA4	7903	broad.mit.edu	37	5	100191813	100191813	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:100191813A>C	ENST00000231461.5	-	4	1101	c.791T>G	c.(790-792)gTc>gGc	p.V264G		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	264					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTACCCTCTGACAGCATGAAT	0.403																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(790-792)gTc>gGc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							103.0	92.0	96.0					5																	100191813		2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100191813A>C	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.791T>G	5.37:g.100191813A>C	ENSP00000231461:p.Val264Gly						p.V264G	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	4	1101	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	264					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.791T>G	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027304	0.75390	.	.	ENSG00000113532	ENST00000231461	T	0.36157	1.27	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.63663	0.2530	M	0.89353	3.025	0.80722	D	1	D	0.63880	0.993	P	0.62813	0.907	T	0.71613	-0.4540	10	0.72032	D	0.01	-8.3466	14.6008	0.68441	1.0:0.0:0.0:0.0	.	264	Q92187	SIA8D_HUMAN	G	264	ENSP00000231461:V264G	ENSP00000231461:V264G	V	-	2	0	ST8SIA4	100219712	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.100000	0.94213	2.220000	0.72140	0.482000	0.46254	GTC		0.403	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		53	240	0	0	0	1	0	53	240				
PICALM	8301	broad.mit.edu	37	11	85733411	85733411	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85733411C>A	ENST00000393346.3	-	4	599	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	PICALM_ENST00000532317.1_Splice_Site_p.G151W|PICALM_ENST00000526033.1_Splice_Site_p.G151W|PICALM_ENST00000528398.1_Splice_Site_p.G100W|PICALM_ENST00000356360.5_Splice_Site_p.G151W|PICALM_ENST00000528411.1_5'Flank			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	151					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTAACTCACCCTCTCTTCACT	0.279			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.e4+1		phosphatidylinositol binding clathrin assembly protein							93.0	94.0	94.0					11																	85733411		2202	4292	6494	SO:0001630	splice_region_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85733411C>A	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.452+1G>T	11.37:g.85733411C>A						PICALM_ENST00000532317.1_Splice_Site_p.G151_splice|PICALM_ENST00000528398.1_Splice_Site_p.G100_splice|PICALM_ENST00000356360.5_Splice_Site_p.G151_splice|PICALM_ENST00000393346.3_Splice_Site_p.G151_splice	p.G151_splice	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			4	767	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	151					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Splice_Site	SNP	ENST00000393346.3	37	c.452_splice	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686847	0.88639	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.34	5.34	0.76211	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.72184	-0.4367	9	.	.	.	-9.3463	19.1015	0.93276	0.0:1.0:0.0:0.0	.	100;151;151;151	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	W	151;151;151;151;100;151;117;100;117	ENSP00000436958:G151W;ENSP00000433846:G151W;ENSP00000377015:G151W;ENSP00000434884:G100W;ENSP00000348718:G151W;ENSP00000433303:G117W;ENSP00000436508:G100W;ENSP00000431545:G117W	.	G	-	1	0	PICALM	85411059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.504000	0.84457	0.461000	0.40582	GGG		0.279	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	Missense_Mutation	73	272	1	0	7.07328e-35	1	8.4269e-35	73	272				
OSBPL5	114879	broad.mit.edu	37	11	3128610	3128610	+	Silent	SNP	G	G	A	rs144743928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3128610G>A	ENST00000263650.7	-	9	1101	c.942C>T	c.(940-942)acC>acT	p.T314T	OSBPL5_ENST00000389989.3_Silent_p.T246T|OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.T246T	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	314					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTGGGTCTCGGTATCTGACT	0.612																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(940-942)acC>acT		oxysterol binding protein-like 5		G	,,	0,4404		0,0,2202	167.0	167.0	167.0		738,942,738	-9.0	0.0	11	dbSNP_134	167	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	OSBPL5	NM_001144063.1,NM_020896.3,NM_145638.2	,,	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	,,	246/812,314/880,246/812	3128610	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3128610G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.942C>T	11.37:g.3128610G>A						OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.T246T|OSBPL5_ENST00000389989.3_Silent_p.T246T	p.T314T	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	9	1101	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	314					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.942C>T	CCDS31344.1																																																																																				0.612	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			219	933	0	0	0	1	0	219	933				
RDX	5962	broad.mit.edu	37	11	110128544	110128544	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110128544A>C	ENST00000343115.4	-	7	965	c.646T>G	c.(646-648)Ttg>Gtg	p.L216V	RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.L80V|RDX_ENST00000528498.1_Missense_Mutation_p.L216V|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.L216V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	216	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CCTAGCCACAATTCAGTTCCT	0.348																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(646-648)Ttg>Gtg		radixin							115.0	117.0	116.0					11																	110128544		2201	4298	6499	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110128544A>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.646T>G	11.37:g.110128544A>C	ENSP00000342830:p.Leu216Val					RDX_ENST00000544551.1_Missense_Mutation_p.L80V|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.L216V|RDX_ENST00000528498.1_Missense_Mutation_p.L216V	p.L216V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	7	965	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	216			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.646T>G	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871122	0.51695	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551;ENST00000534683	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.32	1.79	0.24919	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	D	0.91019	0.7175	L	0.56124	1.755	0.58432	D	0.999992	B;D;B	0.67145	0.129;0.996;0.037	B;D;P	0.91635	0.099;0.999;0.461	D	0.87955	0.2726	10	0.52906	T	0.07	.	8.0771	0.30722	0.6908:0.0:0.3092:0.0	.	80;216;216	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	V	216;216;216;216;80;35	ENSP00000432112:L216V;ENSP00000384136:L216V;ENSP00000342830:L216V;ENSP00000445826:L80V;ENSP00000431560:L35V	ENSP00000342830:L216V	L	-	1	2	RDX	109633754	0.982000	0.34865	0.995000	0.50966	0.988000	0.76386	1.566000	0.36396	0.056000	0.16144	-0.280000	0.10049	TTG		0.348	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		111	451	0	0	0	1	0	111	451				
DIEXF	27042	broad.mit.edu	37	1	210004254	210004254	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210004254A>G	ENST00000491415.2	+	3	311	c.254A>G	c.(253-255)gAa>gGa	p.E85G		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	85	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GTTTCTgaggaagaagaggaa	0.423																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(253-255)gAa>gGa		digestive organ expansion factor homolog (zebrafish)							103.0	94.0	97.0					1																	210004254		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210004254A>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.254A>G	1.37:g.210004254A>G	ENSP00000419005:p.Glu85Gly						p.E85G	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			3	311	+			85			Glu-rich.		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.254A>G	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.943940	0.34283	.	.	ENSG00000117597	ENST00000491415	T	0.49432	0.78	3.63	3.63	0.41609	.	1.108070	0.06638	N	0.760577	T	0.46210	0.1381	M	0.61703	1.905	0.34868	D	0.743271	B	0.12630	0.006	B	0.08055	0.003	T	0.47275	-0.9130	10	0.36615	T	0.2	-3.4558	8.1725	0.31262	0.7137:0.2863:0.0:0.0	.	85	Q68CQ4	DIEXF_HUMAN	G	85	ENSP00000419005:E85G	ENSP00000419005:E85G	E	+	2	0	DIEXF	208070877	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.775000	0.62346	1.427000	0.47276	0.533000	0.62120	GAA		0.423	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		70	341	0	0	0	1	0	70	341				
PHC1	1911	broad.mit.edu	37	12	9089850	9089850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089850C>T	ENST00000543824.1	+	14	2888	c.2556C>T	c.(2554-2556)cgC>cgT	p.R852R	PHC1_ENST00000536844.1_Silent_p.R458R|PHC1_ENST00000433083.2_Silent_p.R807R|PHC1_ENST00000544916.1_Silent_p.R852R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	852					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTATGCTCGCGTTCGCAGGC	0.537																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2419-2421)cgC>cgT		polyhomeotic homolog 1 (Drosophila)							31.0	31.0	31.0					12																	9089850		2202	4286	6488	SO:0001819	synonymous_variant	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9089850C>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2556C>T	12.37:g.9089850C>T						PHC1_ENST00000543824.1_Silent_p.R852R|PHC1_ENST00000544916.1_Silent_p.R852R|PHC1_ENST00000536844.1_Silent_p.R458R	p.R807R			P78364	PHC1_HUMAN			12	2566	+			852					D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	c.2421C>T	CCDS8597.1																																																																																				0.537	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		33	144	0	0	0	1	0	33	144				
ZNF536	9745	broad.mit.edu	37	19	30934897	30934897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30934897G>A	ENST00000355537.3	+	2	575	c.428G>A	c.(427-429)aGc>aAc	p.S143N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	143					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCTTCAACAGCATCCTCTCC	0.622																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(427-429)aGc>aAc		zinc finger protein 536							64.0	54.0	57.0					19																	30934897		2202	4300	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934897G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.428G>A	19.37:g.30934897G>A	ENSP00000347730:p.Ser143Asn						p.S143N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	575	+	Esophageal squamous(110;0.0834)		143					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.428G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991212	0.74703	.	.	ENSG00000198597	ENST00000355537	T	0.07567	3.18	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.040714	0.85682	N	0.000000	T	0.21761	0.0524	L	0.32530	0.975	0.54753	D	0.999986	D;D	0.69078	0.996;0.997	D;D	0.79784	0.951;0.993	T	0.00579	-1.1661	10	0.66056	D	0.02	-34.9913	19.4466	0.94849	0.0:0.0:1.0:0.0	.	143;143	A7E228;O15090	.;ZN536_HUMAN	N	143	ENSP00000347730:S143N	ENSP00000347730:S143N	S	+	2	0	ZNF536	35626737	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.860000	0.99555	2.609000	0.88269	0.462000	0.41574	AGC		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		68	285	0	0	0	1	0	68	285				
ASPM	259266	broad.mit.edu	37	1	197072923	197072923	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072923G>A	ENST00000367409.4	-	18	5714	c.5458C>T	c.(5458-5460)Cta>Tta	p.L1820L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1820	IQ 8. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTTGATTAGCTGGCGTACT	0.358																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5458-5460)Cta>Tta		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							93.0	96.0	95.0					1																	197072923		2202	4298	6500	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072923G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5458C>T	1.37:g.197072923G>A						ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.L1820L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5714	-			1820			IQ 8.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.5458C>T	CCDS1389.1																																																																																				0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		38	551	0	0	0	1	0	38	551				
ANO5	203859	broad.mit.edu	37	11	22283829	22283829	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22283829G>A	ENST00000324559.8	+	16	2102	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	595					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTTAATGAGTGGAGAAGTG	0.363																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1783-1785)gaG>gaA		anoctamin 5							103.0	103.0	103.0					11																	22283829		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22283829G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1785G>A	11.37:g.22283829G>A							p.E595E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			16	2102	+			595						Silent	SNP	ENST00000324559.8	37	c.1785G>A	CCDS31444.1																																																																																				0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		81	406	0	0	0	1	0	81	406				
ATF7IP2	80063	broad.mit.edu	37	16	10532037	10532037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10532037G>A	ENST00000396560.2	+	5	1267	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TTGAACCAACGCATTGGGAAG	0.333																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1039-1041)cGc>cAc		activating transcription factor 7 interacting protein 2							138.0	136.0	137.0					16																	10532037		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10532037G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1040G>A	16.37:g.10532037G>A	ENSP00000379808:p.Arg347His					ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H	p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			5	1267	+			347					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1040G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340217	0.81911	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.55	5.55	0.83447	.	0.213702	0.33534	N	0.004814	T	0.61223	0.2330	L	0.58101	1.795	0.41635	D	0.989044	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.842	T	0.63646	-0.6590	10	0.87932	D	0	-0.259	15.0123	0.71557	0.0:0.0:1.0:0.0	.	347;347	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	347	ENSP00000379807:R347H;ENSP00000379808:R347H;ENSP00000440791:R347H;ENSP00000348799:R347H;ENSP00000322811:R347H	ENSP00000322811:R347H	R	+	2	0	ATF7IP2	10439538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.735000	0.62051	2.602000	0.87976	0.650000	0.86243	CGC		0.333	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		92	392	0	0	0	1	0	92	392				
PHKB	5257	broad.mit.edu	37	16	47703196	47703196	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47703196A>G	ENST00000323584.5	+	26	2522	c.2498A>G	c.(2497-2499)aAc>aGc	p.N833S	PHKB_ENST00000299167.8_Missense_Mutation_p.N833S|PHKB_ENST00000455779.1_Missense_Mutation_p.N826S|PHKB_ENST00000566044.1_Missense_Mutation_p.N826S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	833					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTGATTCAAAACATCATCTAT	0.403																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2476-2478)aAc>aGc		phosphorylase kinase, beta							118.0	111.0	114.0					16																	47703196		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47703196A>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2498A>G	16.37:g.47703196A>G	ENSP00000313504:p.Asn833Ser					PHKB_ENST00000299167.8_Missense_Mutation_p.N833S|PHKB_ENST00000566044.1_Missense_Mutation_p.N826S|PHKB_ENST00000323584.5_Missense_Mutation_p.N833S	p.N826S			Q93100	KPBB_HUMAN			27	2662	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	833					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2477A>G	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188263	0.38609	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88741	-2.42;-2.42	6.16	6.16	0.99307	Glycoside hydrolase 15-related (1);	0.206100	0.53938	D	0.000047	D	0.83552	0.5279	L	0.35414	1.06	0.42581	D	0.993217	B;B;B	0.27559	0.181;0.008;0.18	B;B;B	0.29862	0.083;0.016;0.108	T	0.79617	-0.1729	10	0.09843	T	0.71	-24.4208	16.8061	0.85666	1.0:0.0:0.0:0.0	.	74;833;826	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	S	826;826;833	ENSP00000414345:N826S;ENSP00000313504:N833S	ENSP00000299167:N826S	N	+	2	0	PHKB	46260697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.746000	0.62133	2.367000	0.80283	0.528000	0.53228	AAC		0.403	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			86	388	0	0	0	1	0	86	388				
BCOR	54880	broad.mit.edu	37	X	39937186	39937186	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39937186G>A	ENST00000378444.4	-	0	225				BCOR_ENST00000397354.3_De_novo_Start_OutOfFrame|BCOR_ENST00000342274.4_De_novo_Start_OutOfFrame|BCOR_ENST00000378455.4_De_novo_Start_OutOfFrame	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor						heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAGCATGTCGTCTTCTGGGA	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126								BCL6 corepressor							104.0	82.0	89.0					X																	39937186		2202	4300	6502			54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39937186G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.-4C>T	X.37:g.39937186G>A						BCOR_ENST00000378444.4_De_novo_Start_OutOfFrame|BCOR_ENST00000397354.3_De_novo_Start_OutOfFrame|BCOR_ENST00000378455.4_De_novo_Start_OutOfFrame		NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			0	359	-								D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Translation_Start_Site	SNP	ENST00000378444.4	37		CCDS48093.1																																																																																				0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		71	228	0	0	0	1	0	71	228				
ABCC3	8714	broad.mit.edu	37	17	48733272	48733272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48733272G>A	ENST00000285238.8	+	2	205	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	42				C -> R (in Ref. 5; CAA76658). {ECO:0000305}.	bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGGGTGCCCTGCATCTACCTG	0.587																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(124-126)tGc>tAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						132.0	109.0	117.0					17																	48733272		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48733272G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.125G>A	17.37:g.48733272G>A	ENSP00000285238:p.Cys42Tyr					ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	p.C42Y	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		2	205	+			42	C -> R (in Ref. 5; CAA76658).				B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.125G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364654	0.82463	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	T;T	0.59502	0.26;0.26	5.19	4.18	0.49190	.	0.060583	0.64402	D	0.000003	T	0.77412	0.4126	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.79108	0.903;0.992	T	0.81906	-0.0718	10	0.87932	D	0	-25.6963	14.6648	0.68899	0.0:0.1459:0.8541:0.0	.	42;42	O15438;O15438-5	MRP3_HUMAN;.	Y	42	ENSP00000395160:C42Y;ENSP00000285238:C42Y	ENSP00000285238:C42Y	C	+	2	0	ABCC3	46088271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.338000	0.65947	2.411000	0.81874	0.650000	0.86243	TGC		0.587	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		55	247	0	0	0	1	0	55	247				
FAT3	120114	broad.mit.edu	37	11	92577129	92577129	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92577129T>G	ENST00000298047.6	+	18	10613	c.10596T>G	c.(10594-10596)gtT>gtG	p.V3532V	FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Silent_p.V3382V|FAT3_ENST00000409404.2_Silent_p.V3532V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3532	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGCAAGTTTCTCACACTT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10594-10596)gtT>gtG		FAT atypical cadherin 3							169.0	164.0	166.0					11																	92577129		1920	4135	6055	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577129T>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10596T>G	11.37:g.92577129T>G		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.V3532V|FAT3_ENST00000525166.1_Silent_p.V3382V	p.V3532V			Q8TDW7	FAT3_HUMAN			18	10613	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3532			Cadherin 32.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.10596T>G																																																																																					0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		183	804	0	0	0	1	0	183	804				
AK7	122481	broad.mit.edu	37	14	96887164	96887164	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96887164T>G	ENST00000267584.4	+	5	548	c.504T>G	c.(502-504)gaT>gaG	p.D168E	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	168					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AATAGGAGGATTCTGAGGTTC	0.343																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(502-504)gaT>gaG		adenylate kinase 7							64.0	67.0	66.0					14																	96887164		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96887164T>G	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.504T>G	14.37:g.96887164T>G	ENSP00000267584:p.Asp168Glu					AK7_ENST00000554313.1_3'UTR	p.D168E	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	5	548	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	168					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.504T>G	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021001	0.54576	.	.	ENSG00000140057	ENST00000267584	T	0.64803	-0.12	5.21	-3.58	0.04597	NAD(P)-binding domain (1);	0.107337	0.64402	D	0.000009	T	0.72236	0.3435	M	0.84585	2.705	0.26550	N	0.973937	D	0.55605	0.972	P	0.58013	0.831	T	0.70270	-0.4918	10	0.72032	D	0.01	-40.7125	11.2731	0.49150	0.0:0.4445:0.0:0.5555	.	168	Q96M32	KAD7_HUMAN	E	168	ENSP00000267584:D168E	ENSP00000267584:D168E	D	+	3	2	AK7	95956917	0.024000	0.19004	0.001000	0.08648	0.187000	0.23431	0.008000	0.13197	-0.996000	0.03455	-0.441000	0.05720	GAT		0.343	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			50	241	0	0	0	1	0	50	241				
USP13	8975	broad.mit.edu	37	3	179481862	179481862	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179481862C>A	ENST00000263966.3	+	18	2636	c.2165C>A	c.(2164-2166)tCt>tAt	p.S722Y	USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	722	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGCTTCTGGACTGGAT	0.502																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(2164-2166)tCt>tAt		ubiquitin specific peptidase 13 (isopeptidase T-3)							121.0	107.0	112.0					3																	179481862		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179481862C>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2165C>A	3.37:g.179481862C>A	ENSP00000263966:p.Ser722Tyr					USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	p.S722Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		18	2636	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		722					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.2165C>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455376	0.63401	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.16196	2.36;2.36	5.87	3.86	0.44501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);UBA-like (1);	0.417256	0.28488	N	0.015161	T	0.10508	0.0257	N	0.14661	0.345	0.27348	N	0.95632	P	0.35527	0.507	B	0.40038	0.317	T	0.09818	-1.0657	10	0.62326	D	0.03	-3.585	4.3932	0.11350	0.1825:0.5773:0.0:0.2402	.	722	Q92995	UBP13_HUMAN	Y	722;657	ENSP00000263966:S722Y;ENSP00000417146:S657Y	ENSP00000263966:S722Y	S	+	2	0	USP13	180964556	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	0.965000	0.29319	1.495000	0.48549	0.591000	0.81541	TCT		0.502	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			77	348	1	0	4.41824e-40	1	5.35239e-40	77	348				
ZNF462	58499	broad.mit.edu	37	9	109689396	109689396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689396G>A	ENST00000277225.5	+	3	3492	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1068					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAACTATGCGAATGGTGTCT	0.483																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3202-3204)cGa>cAa		zinc finger protein 462							141.0	137.0	138.0					9																	109689396		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689396G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3203G>A	9.37:g.109689396G>A	ENSP00000277225:p.Arg1068Gln					ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q	p.R1068Q			Q96JM2	ZN462_HUMAN			3	3492	+			1068					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3203G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070111	0.76301	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07688	3.17;3.62	5.6	5.6	0.85130	.	0.057625	0.64402	D	0.000004	T	0.20861	0.0502	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.59115	0.852;0.644	T	0.00083	-1.2101	10	0.66056	D	0.02	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	1068;1068	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Q	1068	ENSP00000277225:R1068Q;ENSP00000414570:R1068Q	ENSP00000277225:R1068Q	R	+	2	0	ZNF462	108729217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.526000	0.81920	2.630000	0.89119	0.655000	0.94253	CGA		0.483	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		146	632	0	0	0	1	0	146	632				
KIAA0232	9778	broad.mit.edu	37	4	6865260	6865260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6865260G>A	ENST00000307659.5	+	7	3606	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1051							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATTTTCACAAGTTCTTCATGT	0.398																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(3151-3153)Gtt>Att		KIAA0232							81.0	75.0	77.0					4																	6865260		1855	4100	5955	SO:0001583	missense	9778						ATP binding	g.chr4:6865260G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3151G>A	4.37:g.6865260G>A	ENSP00000303928:p.Val1051Ile					KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	p.V1051I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	3606	+			1051					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.3151G>A	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710692	0.68730	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	M	0.64997	1.995	0.58432	D	0.999997	D	0.60575	0.988	P	0.59487	0.858	T	0.77571	-0.2538	9	0.87932	D	0	-26.2537	18.8694	0.92306	0.0:0.0:1.0:0.0	.	1051	Q92628	K0232_HUMAN	I	1051	.	ENSP00000303928:V1051I	V	+	1	0	KIAA0232	6916161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.158000	0.77470	2.765000	0.95021	0.655000	0.94253	GTT		0.398	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		71	280	0	0	0	1	0	71	280				
RHD	6007	broad.mit.edu	37	1	25599174	25599174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25599174G>A	ENST00000328664.4	+	1	291	c.136G>A	c.(136-138)Gca>Aca	p.A46T	RHD_ENST00000454452.2_Missense_Mutation_p.A46T|RHD_ENST00000568195.1_Missense_Mutation_p.A46T|RHD_ENST00000417538.2_Missense_Mutation_p.A46T|RHD_ENST00000423810.2_Missense_Mutation_p.A46T|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.A46T|RHD_ENST00000342055.5_Missense_Mutation_p.A46T	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	46						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGCTCGTGGCATCCTATCA	0.537																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(136-138)Gca>Aca		Rh blood group, D antigen							85.0	71.0	76.0					1																	25599174		2200	4289	6489	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25599174G>A	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.136G>A	1.37:g.25599174G>A	ENSP00000331871:p.Ala46Thr					RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.A46T|RHD_ENST00000423810.2_Missense_Mutation_p.A46T|RHD_ENST00000568195.1_Missense_Mutation_p.A46T|RHD_ENST00000454452.2_Missense_Mutation_p.A46T|RHD_ENST00000342055.5_Missense_Mutation_p.A46T|RHD_ENST00000357542.4_Missense_Mutation_p.A46T	p.A46T	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	1	291	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	46					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.136G>A	CCDS262.1	.	.	.	.	.	.	.	.	.	.	g	9.863	1.196861	0.22037	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	3.5	0.39	0.16275	Ammonium transporter AmtB-like (3);	2.061140	0.01722	N	0.028330	T	0.37293	0.0998	L	0.41573	1.285	0.09310	N	1	B;P;D;P;P;B;P;P	0.69078	0.409;0.605;0.997;0.772;0.542;0.362;0.814;0.605	B;P;D;P;B;B;P;B	0.75020	0.348;0.464;0.985;0.484;0.281;0.249;0.602;0.388	T	0.43507	-0.9387	10	0.10902	T	0.67	0.5042	6.3361	0.21296	0.3865:0.0:0.6135:0.0	.	46;46;46;46;46;46;46;46	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	T	46	ENSP00000331871:A46T;ENSP00000413849:A46T;ENSP00000339577:A46T;ENSP00000350150:A46T;ENSP00000396420:A46T;ENSP00000399640:A46T	ENSP00000331871:A46T	A	+	1	0	RHD	25471761	0.002000	0.14202	0.004000	0.12327	0.001000	0.01503	0.091000	0.15046	0.140000	0.18849	-0.347000	0.07816	GCA		0.537	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		105	467	0	0	0	1	0	105	467				
MED12L	116931	broad.mit.edu	37	3	150877688	150877688	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877688T>C	ENST00000474524.1	+	7	945	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	MED12L_ENST00000309237.4_Missense_Mutation_p.S303P|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.S303P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	303						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCGTCTTTCCTTGCTGCT	0.557																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(907-909)Tcc>Ccc		mediator complex subunit 12-like							169.0	168.0	168.0					3																	150877688		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877688T>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.907T>C	3.37:g.150877688T>C	ENSP00000417235:p.Ser303Pro					MED12L_ENST00000422248.2_Missense_Mutation_p.S303P|MED12L_ENST00000309237.4_Missense_Mutation_p.S303P|MED12L_ENST00000273432.4_Intron	p.S303P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	945	+			303					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.907T>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552794	0.65425	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.34859	1.34;1.34;1.34	5.41	4.34	0.51931	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.195681	0.44902	D	0.000420	T	0.36936	0.0985	L	0.52573	1.65	0.80722	D	1	B;B;B	0.30361	0.157;0.039;0.277	B;B;B	0.36534	0.14;0.086;0.227	T	0.26744	-1.0094	10	0.87932	D	0	-8.2762	11.1394	0.48394	0.0:0.0:0.4103:0.5897	.	303;303;303	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	P	303	ENSP00000403308:S303P;ENSP00000310760:S303P;ENSP00000417235:S303P	ENSP00000310760:S303P	S	+	1	0	MED12L	152360378	0.991000	0.36638	0.956000	0.39512	0.991000	0.79684	2.493000	0.45320	1.014000	0.39417	0.459000	0.35465	TCC		0.557	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		203	846	0	0	0	1	0	203	846				
LRRC59	55379	broad.mit.edu	37	17	48474609	48474609	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48474609G>T	ENST00000225972.7	-	1	305	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I|RP1-117B12.4_ENST00000511627.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	24						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTCGCTGAGGCTCAGGTCC	0.697											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225972.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(70-72)Ctc>Atc		leucine rich repeat containing 59							83.0	74.0	77.0					17																	48474609		2203	4300	6503	SO:0001583	missense	55379					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	g.chr17:48474609G>T	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.70C>A	17.37:g.48474609G>T	ENSP00000225972:p.Leu24Ile		OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	RP1-117B12.4_ENST00000511627.1_RNA|LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I	p.L24I	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		1	305	-	Breast(11;5.62e-19)		24					B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	c.70C>A	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769440	0.90020	.	.	ENSG00000108829	ENST00000225972	T	0.02421	4.3	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.15975	0.35	0.58432	D	0.999996	D	0.67145	0.996	D	0.70016	0.967	T	0.61471	-0.7056	10	0.23302	T	0.38	.	14.2164	0.65795	0.0715:0.0:0.9285:0.0	.	24	Q96AG4	LRC59_HUMAN	I	24	ENSP00000225972:L24I	ENSP00000225972:L24I	L	-	1	0	LRRC59	45829608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.457000	0.73505	2.808000	0.96608	0.655000	0.94253	CTC		0.697	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		87	401	1	0	5.52034e-35	1	6.58082e-35	87	401				
SMIM21	284274	broad.mit.edu	37	18	73122827	73122827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:73122827C>T	ENST00000579022.1	-	3	437	c.298G>A	c.(298-300)Gca>Aca	p.A100T	SMIM21_ENST00000382638.3_Missense_Mutation_p.S56N|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	100						integral component of membrane (GO:0016021)											ATTTATTCTGCTTCTGCTGTG	0.363																																						ENST00000579022.1																			0											c.(298-300)Gca>Aca		small integral membrane protein 21							140.0	138.0	138.0					18																	73122827		2203	4300	6503	SO:0001583	missense	284274							g.chr18:73122827C>T		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.298G>A	18.37:g.73122827C>T	ENSP00000462106:p.Ala100Thr					SMIM21_ENST00000382638.3_Missense_Mutation_p.S56N|RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron	p.A100T	NM_001037331.2	NP_001032408.1					3	437	-									Missense_Mutation	SNP	ENST00000579022.1	37	c.298G>A	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	C	4.611	0.113502	0.08831	.	.	ENSG00000206026	ENST00000382638	.	.	.	3.88	-2.39	0.06602	.	.	.	.	.	T	0.14614	0.0353	N	0.08118	0	0.19575	N	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.20706	-1.0267	8	0.87932	D	0	.	0.8302	0.01129	0.2683:0.3119:0.1084:0.3114	.	100	Q3B7S5	CR062_HUMAN	T	100	.	ENSP00000372083:A100T	A	-	1	0	C18orf62	71251815	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.158000	0.10070	-0.447000	0.07138	0.460000	0.39030	GCA		0.363	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		64	255	0	0	0	1	0	64	255				
BANF1	8815	broad.mit.edu	37	11	65770776	65770776	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65770776C>A	ENST00000312175.2	+	2	563	c.55C>A	c.(55-57)Cca>Aca	p.P19T	EIF1AD_ENST00000529964.1_5'Flank|BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|EIF1AD_ENST00000525767.1_5'Flank|EIF1AD_ENST00000533544.1_5'Flank|BANF1_ENST00000527348.1_Missense_Mutation_p.P19T|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron|EIF1AD_ENST00000312234.2_5'Flank|EIF1AD_ENST00000527249.1_5'Flank|EIF1AD_ENST00000526451.1_5'Flank	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	19					DNA integration (GO:0015074)|establishment of integrated proviral latency (GO:0075713)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|response to virus (GO:0009615)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|prostate(1)	3						GGGGGAGAAGCCAGTGGGGAG	0.542																																						ENST00000312175.2																			0				large_intestine(2)|prostate(1)	3						c.(55-57)Cca>Aca		barrier to autointegration factor 1							45.0	46.0	45.0					11																	65770776		2201	4293	6494	SO:0001583	missense	8815				initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding	g.chr11:65770776C>A	AF068235	CCDS8125.1	11q13.1	2012-04-19			ENSG00000175334	ENSG00000175334			17397	protein-coding gene	gene with protein product		603811				9465049	Standard	NM_003860		Approved	BAF	uc001ogp.3	O75531	OTTHUMG00000166749	ENST00000312175.2:c.55C>A	11.37:g.65770776C>A	ENSP00000310275:p.Pro19Thr					BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000527348.1_Missense_Mutation_p.P19T	p.P19T	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN			2	563	+			19					O60558|Q6FGG7	Missense_Mutation	SNP	ENST00000312175.2	37	c.55C>A	CCDS8125.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074526	0.76415	.	.	ENSG00000175334	ENST00000312175;ENST00000445560;ENST00000530204;ENST00000533166;ENST00000527348	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.57	4.57	0.56435	.	0.115747	0.64402	D	0.000013	T	0.55986	0.1955	.	.	.	0.53688	D	0.999979	P	0.35174	0.488	P	0.46850	0.529	T	0.51164	-0.8740	9	0.25106	T	0.35	-0.3442	14.8945	0.70633	0.0:1.0:0.0:0.0	.	19	O75531	BAF_HUMAN	T	19	ENSP00000310275:P19T;ENSP00000416128:P19T;ENSP00000431785:P19T;ENSP00000433760:P19T;ENSP00000432867:P19T	ENSP00000310275:P19T	P	+	1	0	BANF1	65527352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.197000	0.51028	2.381000	0.81170	0.650000	0.86243	CCA		0.542	BANF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391340.1	NM_003860		41	151	1	0	3.38236e-24	1	3.86174e-24	41	151				
NCAPG	64151	broad.mit.edu	37	4	17844978	17844978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17844978G>A	ENST00000251496.2	+	21	3154	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	993					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTACCAAGACGAGCCAAAACC	0.363																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2977-2979)cGa>cAa		non-SMC condensin I complex, subunit G							98.0	106.0	104.0					4																	17844978		2203	4299	6502	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17844978G>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2978G>A	4.37:g.17844978G>A	ENSP00000251496:p.Arg993Gln					LCORL_ENST00000326877.3_3'UTR	p.R993Q	NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	21	3154	+			993					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2978G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661373	0.96734	.	.	ENSG00000109805	ENST00000251496	T	0.38560	1.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.66073	-0.6014	10	0.72032	D	0.01	-10.9118	20.8794	0.99867	0.0:0.0:1.0:0.0	.	993	Q9BPX3	CND3_HUMAN	Q	993	ENSP00000251496:R993Q	ENSP00000251496:R993Q	R	+	2	0	NCAPG	17454076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.941000	0.99782	0.655000	0.94253	CGA		0.363	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		99	405	0	0	0	1	0	99	405				
GRWD1	83743	broad.mit.edu	37	19	48956001	48956001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956001G>A	ENST00000253237.5	+	7	1293	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	354						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCAGCACGTGGCCCCCGTGAC	0.652																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(1060-1062)Gcc>Acc		glutamate-rich WD repeat containing 1							67.0	65.0	66.0					19																	48956001		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48956001G>A	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1060G>A	19.37:g.48956001G>A	ENSP00000253237:p.Ala354Thr						p.A354T	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	7	1293	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	354					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.1060G>A	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195000	0.94960	.	.	ENSG00000105447	ENST00000253237	T	0.61040	0.14	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.181454	0.46145	D	0.000309	T	0.73055	0.3538	M	0.87269	2.87	0.58432	D	0.999998	P	0.44281	0.831	P	0.51974	0.686	T	0.70930	-0.4738	10	0.19147	T	0.46	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	354	Q9BQ67	GRWD1_HUMAN	T	354	ENSP00000253237:A354T	ENSP00000253237:A354T	A	+	1	0	GRWD1	53647813	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.731000	0.74785	2.686000	0.91538	0.561000	0.74099	GCC		0.652	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		25	536	0	0	0	1	0	25	536				
UMOD	7369	broad.mit.edu	37	16	20355365	20355365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20355365C>T	ENST00000570689.1	-	6	1458	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	UMOD_ENST00000302509.4_Missense_Mutation_p.A438T|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T|UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396134.2_Missense_Mutation_p.A471T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T			P07911	UROM_HUMAN	uromodulin	438	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCTGTAGGGCGGTCTTCAGG	0.542																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1411-1413)Gcc>Acc		uromodulin							113.0	98.0	103.0					16																	20355365		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355365C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1312G>A	16.37:g.20355365C>T	ENSP00000460548:p.Ala438Thr					UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T|UMOD_ENST00000302509.4_Missense_Mutation_p.A438T|UMOD_ENST00000570689.1_Missense_Mutation_p.A438T|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T	p.A471T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			7	1534	-			438			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1411G>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343922	0.41498	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.49	1.89	0.25635	Zona pellucida sperm-binding protein (3);	0.137477	0.34110	N	0.004243	T	0.76659	0.4018	L	0.52364	1.645	0.19775	N	0.999956	P;P	0.40282	0.543;0.711	B;P	0.45610	0.18;0.487	T	0.67647	-0.5617	10	0.59425	D	0.04	-31.8589	7.0744	0.25197	0.3886:0.4834:0.0:0.128	.	471;438	E9PEA4;P07911	.;UROM_HUMAN	T	438;471;471;438;416;438	ENSP00000379438:A471T;ENSP00000416346:A471T;ENSP00000306279:A438T;ENSP00000379446:A438T	ENSP00000306279:A438T	A	-	1	0	UMOD	20262866	0.358000	0.24947	0.989000	0.46669	0.740000	0.42216	0.371000	0.20450	0.339000	0.23719	-0.264000	0.10439	GCC		0.542	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			61	208	0	0	0	1	0	61	208				
ISX	91464	broad.mit.edu	37	22	35478605	35478605	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35478605C>T	ENST00000308700.6	+	2	1276	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ISX_ENST00000404699.2_Silent_p.D108D	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	108					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						ACTACCCAGACGTTCACATCC	0.587																																						ENST00000308700.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(322-324)gaC>gaT		intestine-specific homeobox							119.0	99.0	105.0					22																	35478605		2203	4300	6503	SO:0001819	synonymous_variant	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35478605C>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.324C>T	22.37:g.35478605C>T						ISX_ENST00000404699.2_Silent_p.D108D	p.D108D	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN			2	1276	+			108					Q68DJ5	Silent	SNP	ENST00000308700.6	37	c.324C>T	CCDS33640.1																																																																																				0.587	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		62	327	0	0	0	1	0	62	327				
LRP12	29967	broad.mit.edu	37	8	105510183	105510183	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105510183G>T	ENST00000276654.5	-	5	705	c.597C>A	c.(595-597)atC>atA	p.I199I	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Silent_p.I180I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	199	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTTGGCACAGATCTCTTCAT	0.428																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(595-597)atC>atA		low density lipoprotein receptor-related protein 12							205.0	182.0	190.0					8																	105510183		2203	4300	6503	SO:0001819	synonymous_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105510183G>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.597C>A	8.37:g.105510183G>T						LRP12_ENST00000424843.2_Silent_p.I180I	p.I199I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	705	-			199			LDL-receptor class A 1.		A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	c.597C>A	CCDS6303.1																																																																																				0.428	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		105	557	1	0	2.96211e-45	1	3.63119e-45	105	557				
FSIP1	161835	broad.mit.edu	37	15	40005738	40005738	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40005738T>G	ENST00000350221.3	-	10	1304	c.1095A>C	c.(1093-1095)ggA>ggC	p.G365G		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	365										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTATCTTTTCTCCTGGAGTTA	0.378																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(1093-1095)ggA>ggC		fibrous sheath interacting protein 1							225.0	219.0	221.0					15																	40005738		2203	4300	6503	SO:0001819	synonymous_variant	161835							g.chr15:40005738T>G	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1095A>C	15.37:g.40005738T>G							p.G365G	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	10	1304	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	365					Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	37	c.1095A>C	CCDS10050.1																																																																																				0.378	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		180	860	0	0	0	1	0	180	860				
ANKRD50	57182	broad.mit.edu	37	4	125599995	125599995	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125599995G>T	ENST00000504087.1	-	3	1615	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	193										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCATCAACAGAATCAACAAG	0.438																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(577-579)tCt>tAt		ankyrin repeat domain 50							169.0	170.0	170.0					4																	125599995		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125599995G>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.578C>A	4.37:g.125599995G>T	ENSP00000425658:p.Ser193Tyr					ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	p.S193Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			3	1615	-			193					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.578C>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736369	0.69189	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.71934	1.83;-0.61	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83473	0.0060	10	0.87932	D	0	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	193	Q9ULJ7	ANR50_HUMAN	Y	193;14	ENSP00000425658:S193Y;ENSP00000425355:S14Y	ENSP00000425658:S193Y	S	-	2	0	ANKRD50	125819445	1.000000	0.71417	0.882000	0.34594	0.152000	0.21847	8.836000	0.92105	2.761000	0.94854	0.585000	0.79938	TCT		0.438	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		148	600	1	0	1.12603e-65	1	1.42405e-65	148	600				
APBA2	321	broad.mit.edu	37	15	29393844	29393844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29393844G>A	ENST00000558402.1	+	11	1980	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	APBA2_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T|APBA2_ENST00000558259.1_Missense_Mutation_p.A461T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	461	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCCTACATCGCCGACATTGG	0.587																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1381-1383)Gcc>Acc		amyloid beta (A4) precursor protein-binding, family A, member 2							106.0	75.0	85.0					15																	29393844		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393844G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1381G>A	15.37:g.29393844G>A	ENSP00000453293:p.Ala461Thr					APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000558259.1_Missense_Mutation_p.A461T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T	p.A461T			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	1980	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	461			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1381G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312706	0.95655	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.32272	1.46	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.130099	0.48767	D	0.000177	T	0.57198	0.2037	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.991;1.0;0.976;0.977	T	0.64158	-0.6473	10	0.87932	D	0	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	449;153;449;461	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	T	449;461;153	ENSP00000409312:A449T	ENSP00000219865:A461T	A	+	1	0	APBA2	27181136	1.000000	0.71417	0.606000	0.28943	0.985000	0.73830	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	GCC		0.587	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		21	108	0	0	0	1	0	21	108				
LMNB2	84823	broad.mit.edu	37	19	2435154	2435154	+	Missense_Mutation	SNP	G	G	A	rs148936043	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2435154G>A	ENST00000582871.1	-	5	726	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	LMNB2_ENST00000325327.3_Missense_Mutation_p.R234W	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	214	Linker 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCCGCCGCGTCTCCCGC	0.682																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(700-702)Cgg>Tgg		lamin B2		G	TRP/ARG	0,4392		0,0,2196	22.0	25.0	24.0		640	2.5	0.3	19	dbSNP_134	24	2,8574		0,2,4286	yes	missense	LMNB2	NM_032737.2	101	0,2,6482	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	214/601	2435154	2,12966	2196	4288	6484	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2435154G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.640C>T	19.37:g.2435154G>A	ENSP00000462730:p.Arg214Trp					LMNB2_ENST00000582871.1_Missense_Mutation_p.R214W	p.R234W			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	762	-		Hepatocellular(1079;0.137)	214			Linker 2.|Rod.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.700C>T		.	.	.	.	.	.	.	.	.	.	G	18.95	3.731514	0.69189	0.0	2.33E-4	ENSG00000176619	ENST00000325327	.	.	.	4.83	2.52	0.30459	Filament (1);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.91818	3.245	0.52099	D	0.999947	D	0.89917	1.0	D	0.81914	0.995	D	0.83573	0.0113	9	0.87932	D	0	.	10.8341	0.46677	0.0:0.0:0.4591:0.5409	.	214	Q03252	LMNB2_HUMAN	W	214	.	ENSP00000327054:R214W	R	-	1	2	LMNB2	2386154	0.998000	0.40836	0.348000	0.25681	0.996000	0.88848	2.629000	0.46485	1.011000	0.39340	0.561000	0.74099	CGG		0.682	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		48	291	0	0	0	1	0	48	291				
C6orf118	168090	broad.mit.edu	37	6	165715502	165715502	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTCATCCTCGCCACCTTCC	0.682																																						ENST00000230301.8																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(307-309)gcG>gcA		chromosome 6 open reading frame 118							61.0	65.0	63.0					6																	165715502		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715502C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.309G>A	6.37:g.165715502C>T						C6orf118_ENST00000543069.1_5'UTR	p.A103A	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	329	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	103					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.309G>A	CCDS5288.1																																																																																				0.682	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		95	414	0	0	0	1	0	95	414				
HELZ2	85441	broad.mit.edu	37	20	62195237	62195237	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62195237C>T	ENST00000467148.1	-	8	5007	c.4938G>A	c.(4936-4938)gcG>gcA	p.A1646A	HELZ2_ENST00000427522.2_Silent_p.A1077A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1646					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGCGGCCGAACGCCGAGCGCT	0.687																																						ENST00000467148.1																			0											c.(4936-4938)gcG>gcA		helicase with zinc finger 2, transcriptional coactivator							17.0	15.0	16.0					20																	62195237		2163	4281	6444	SO:0001819	synonymous_variant	85441							g.chr20:62195237C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4938G>A	20.37:g.62195237C>T						HELZ2_ENST00000427522.2_Silent_p.A1077A	p.A1646A	NM_001037335.2	NP_001032412.2					8	5007	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.4938G>A	CCDS33508.1																																																																																				0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		17	79	0	0	0	1	0	17	79				
TRPM3	80036	broad.mit.edu	37	9	73213583	73213583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73213583G>T	ENST00000377111.2	-	20	3007	c.2764C>A	c.(2764-2766)Ctg>Atg	p.L922M	TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000377110.3_Missense_Mutation_p.L922M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	947					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTGACATCAGAATCTATAAG	0.488																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2764-2766)Ctg>Atg		transient receptor potential cation channel, subfamily M, member 3							100.0	91.0	94.0					9																	73213583		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73213583G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2764C>A	9.37:g.73213583G>T	ENSP00000366315:p.Leu922Met					TRPM3_ENST00000377111.2_Missense_Mutation_p.L922M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M	p.L922M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			20	3007	-			947					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2764C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.620421|2.620421	0.46736|0.46736	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14|.	5.17|5.17	2.11|2.11	0.27256|0.27256	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.39279|0.39279	0.1072|0.1072	N|N	0.17764|0.17764	0.52|0.52	0.40532|0.40532	D|D	0.980949|0.980949	D;P;D;P;P;P;D;B|.	0.89917|.	0.997;0.896;0.999;0.937;0.605;0.817;1.0;0.02|.	D;P;D;P;P;P;D;B|.	0.91635|.	0.982;0.789;0.999;0.81;0.893;0.802;0.99;0.195|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.54805|.	T|.	0.06|.	-12.4354|-12.4354	9.5748|9.5748	0.39450|0.39450	0.4221:0.0:0.5779:0.0|0.4221:0.0:0.5779:0.0	.|.	922;922;912;926;784;781;894;769|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	M|Y	922;922;794;784;781;926;781;769;794;784;949|770	ENSP00000366315:L922M;ENSP00000366314:L922M;ENSP00000366310:L794M;ENSP00000354066:L784M;ENSP00000366309:L781M;ENSP00000350140:L926M;ENSP00000386127:L781M;ENSP00000379581:L769M;ENSP00000379587:L794M;ENSP00000350791:L784M;ENSP00000389542:L949M|.	ENSP00000350140:L926M|.	L|S	-|-	1|2	2|0	TRPM3|TRPM3	72403403|72403403	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	2.047000|2.047000	0.41269|0.41269	0.595000|0.595000	0.29777|0.29777	-0.213000|-0.213000	0.12676|0.12676	CTG|TCT		0.488	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		64	374	1	0	9.40535e-28	1	1.0908e-27	64	374				
CAD	790	broad.mit.edu	37	2	27464813	27464813	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464813G>C	ENST00000403525.1	+	38	5873	c.5729G>C	c.(5728-5730)aGc>aCc	p.S1910T	CAD_ENST00000264705.4_Missense_Mutation_p.S1973T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGAAGTGAGCACACGGACC	0.592																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(5917-5919)aGc>aCc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						62.0	52.0	56.0					2																	27464813		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27464813G>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5729G>C	2.37:g.27464813G>C	ENSP00000384510:p.Ser1910Thr					CAD_ENST00000403525.1_Missense_Mutation_p.S1910T	p.S1973T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			39	6080	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1973			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.5918G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.2|26.2|26.2	4.718715|4.718715|4.718715	0.89205|0.89205|0.89205	.|.|.	.|.|.	ENSG00000084774|ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000456311|ENST00000264705;ENST00000403525	.|.|D;D	.|.|0.99784	.|.|-6.74;-6.74	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.99906|0.99906|0.99906	0.9955|0.9955|0.9955	H|H|H	0.99800|0.99800|0.99800	4.79|4.79|4.79	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.89917	.|.|1.0;0.997	.|.|D;D	.|.|0.97110	.|.|1.0;0.992	D|D|D	0.95862|0.95862|0.95862	0.8884|0.8884|0.8884	5|5|10	.|.|0.87932	.|.|D	.|.|0	-9.1427|-9.1427|-9.1427	16.9473|16.9473|16.9473	0.86232|0.86232|0.86232	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|1910;1973	.|.|F8VPD4;P27708	.|.|.;PYR1_HUMAN	P|D|T	9|277|1973;1910	.|.|ENSP00000264705:S1973T;ENSP00000384510:S1910T	.|.|ENSP00000264705:S1973T	A|E|S	+|+|+	1|3|2	0|2|0	CAD|CAD|CAD	27318317|27318317|27318317	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	9.249000|9.249000|9.249000	0.95470|0.95470|0.95470	2.347000|2.347000|2.347000	0.79759|0.79759|0.79759	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GCA|GAG|AGC		0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			8	245	0	0	0	1	0	8	245				
FARP1	10160	broad.mit.edu	37	13	99061637	99061637	+	Missense_Mutation	SNP	C	C	T	rs201301105	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99061637C>T	ENST00000319562.6	+	14	1725	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	FARP1_ENST00000376586.2_Missense_Mutation_p.S487L|FARP1_ENST00000595437.1_Missense_Mutation_p.S487L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	487					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCTGTGAACTCGCAGGGGGGA	0.542																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1459-1461)tCg>tTg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	44.0	43.0	44.0		1460	5.5	1.0	13		44	0,8600		0,0,4300	no	missense	FARP1	NM_005766.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	487/1046	99061637	1,13005	2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99061637C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1460C>T	13.37:g.99061637C>T	ENSP00000322926:p.Ser487Leu					FARP1_ENST00000595437.1_Missense_Mutation_p.S487L|FARP1_ENST00000319562.6_Missense_Mutation_p.S487L	p.S487L			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		14	1796	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		487					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1460C>T	CCDS9487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245831|3.245831	0.59103|0.59103	2.27E-4|2.27E-4	0.0|0.0	ENSG00000152767|ENSG00000152767	ENST00000457029|ENST00000376586;ENST00000376584;ENST00000319562	.|T;T	.|0.79749	.|-1.3;-1.11	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.208188	.|0.43260	.|D	.|0.000592	T|T	0.79633|0.79633	0.4479|0.4479	M|M	0.64997|0.64997	1.995|1.995	0.46542|0.46542	D|D	0.999091|0.999091	.|B;B	.|0.12630	.|0.004;0.006	.|B;B	.|0.09377	.|0.001;0.004	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.51188	.|T	.|0.08	.|.	17.5056|17.5056	0.87745|0.87745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|487;487	.|Q9Y4F1;C9JME2	.|FARP1_HUMAN;.	C|L	16|487;192;487	.|ENSP00000365771:S487L;ENSP00000322926:S487L	.|ENSP00000322926:S487L	R|S	+|+	1|2	0|0	FARP1|FARP1	97859638|97859638	0.998000|0.998000	0.40836|0.40836	0.974000|0.974000	0.42286|0.42286	0.785000|0.785000	0.44390|0.44390	4.012000|4.012000	0.57131|0.57131	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.542	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		81	255	0	0	0	1	0	81	255				
GBP1	2633	broad.mit.edu	37	1	89525106	89525106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89525106C>T	ENST00000370473.4	-	4	541	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	108	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTGGTTGTCACCCTGGAAG	0.483																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(322-324)Gac>Aac		guanylate binding protein 1, interferon-inducible							135.0	120.0	125.0					1																	89525106		2203	4298	6501	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89525106C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.322G>A	1.37:g.89525106C>T	ENSP00000359504:p.Asp108Asn						p.D108N	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	4	541	-		Lung NSC(277;0.123)	108					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.322G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680954	0.47886	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.75938	-0.98	4.6	1.65	0.23941	Guanylate-binding protein, N-terminal (1);	0.225904	0.42682	N	0.000670	T	0.49712	0.1573	L	0.52905	1.665	0.24793	N	0.992749	B	0.28713	0.22	B	0.32805	0.153	T	0.47446	-0.9117	10	0.46703	T	0.11	.	7.5495	0.27788	0.0:0.7053:0.0:0.2947	.	108	P32455	GBP1_HUMAN	N	108;71	ENSP00000359504:D108N	ENSP00000359504:D108N	D	-	1	0	GBP1	89297694	0.987000	0.35691	0.996000	0.52242	0.820000	0.46376	1.855000	0.39378	0.382000	0.24878	0.306000	0.20318	GAC		0.483	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		44	409	0	0	0	1	0	44	409				
SLITRK1	114798	broad.mit.edu	37	13	84454641	84454641	+	Silent	SNP	G	G	T	rs200425087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84454641G>T	ENST00000377084.2	-	1	1887	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	334	LRRNT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTAGCTAAGGGTTTGTTCC	0.552																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1000-1002)ccC>ccA		SLIT and NTRK-like family, member 1							77.0	75.0	76.0					13																	84454641		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84454641G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1002C>A	13.37:g.84454641G>T							p.P334P	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1887	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	334			LRRNT 2.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1002C>A	CCDS9464.1																																																																																				0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		61	347	1	0	8.13277e-46	1	9.98146e-46	61	347				
HOXA3	3200	broad.mit.edu	37	7	27147792	27147792	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147792T>C	ENST00000396352.4	-	3	1273	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Silent_p.P358P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	358					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCTGTATGTGTGGGGTCCCAT	0.672																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(1072-1074)ccA>ccG		homeobox A3							25.0	22.0	23.0					7																	27147792		2202	4298	6500	SO:0001819	synonymous_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147792T>C		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1074A>G	7.37:g.27147792T>C						HOXA3_ENST00000317201.2_Silent_p.P358P|HOXA-AS2_ENST00000518088.1_RNA	p.P358P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1273	-			358					A4D181	Silent	SNP	ENST00000396352.4	37	c.1074A>G	CCDS5404.1																																																																																				0.672	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			33	126	0	0	0	1	0	33	126				
CCDC137	339230	broad.mit.edu	37	17	79637483	79637483	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79637483C>T	ENST00000329214.8	+	3	900	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	166							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAAAAAAAGCGTGAGTGGAG	0.597																																						ENST00000329214.8																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12						c.e3+1		coiled-coil domain containing 137																																				SO:0001630	splice_region_variant	339230							g.chr17:79637483C>T	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.497+1C>T	17.37:g.79637483C>T							p.A166_splice	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		3	900	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		166						Splice_Site	SNP	ENST00000329214.8	37	c.497_splice	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442249	0.25987	.	.	ENSG00000185298	ENST00000329214	D	0.90324	-2.65	4.53	1.29	0.21616	.	0.721738	0.13152	N	0.409835	T	0.76350	0.3975	N	0.12182	0.205	0.30472	N	0.773231	B	0.17465	0.022	B	0.08055	0.003	T	0.66799	-0.5832	10	0.34782	T	0.22	-9.089	1.3508	0.02172	0.1734:0.4604:0.1681:0.198	.	166	Q6PK04	CC137_HUMAN	V	166	ENSP00000329360:A166V	ENSP00000329360:A166V	A	+	2	0	CCDC137	77247888	0.999000	0.42202	0.998000	0.56505	0.896000	0.52359	0.270000	0.18607	1.103000	0.41568	0.655000	0.94253	GCG		0.597	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1		Missense_Mutation	24	112	0	0	0	1	0	24	112				
KRT82	3888	broad.mit.edu	37	12	52793859	52793859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52793859G>A	ENST00000257974.2	-	5	929	c.852C>T	c.(850-852)gaC>gaT	p.D284D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	284	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGCCGTCCACGTCCAGCTCCC	0.612																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(850-852)gaC>gaT		keratin 82							101.0	85.0	90.0					12																	52793859		2203	4300	6503	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52793859G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.852C>T	12.37:g.52793859G>A						RP3-416H24.4_ENST00000547174.1_RNA	p.D284D	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	5	929	-			284			Coil 2.|Rod.			Silent	SNP	ENST00000257974.2	37	c.852C>T	CCDS8826.1																																																																																				0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		15	455	0	0	0	1	0	15	455				
NR2E3	10002	broad.mit.edu	37	15	72103910	72103910	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72103910G>A	ENST00000398840.2	+	0	396							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						GGCTGCAGCGGCTTCTTCAAG	0.672																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3							16.0	20.0	19.0					15																	72103910		2060	4207	6267			10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72103910G>A		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72103910G>A										Q9Y5X4	NR2E3_HUMAN			0	396	+								B6ZGU0|Q9UHM4	RNA	SNP	ENST00000398840.2	37			.	.	.	.	.	.	.	.	.	.	G	11.99	1.802620	0.31869	.	.	ENSG00000031544	ENST00000398840	.	.	.	4.13	4.13	0.48395	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.110700	0.64402	D	0.000011	D	0.85588	0.5731	H	0.95004	3.61	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.91333	0.5091	8	0.87932	D	0	.	12.98	0.58557	0.0:0.164:0.836:0.0	.	69	Q9Y5X4	NR2E3_HUMAN	D	69	.	ENSP00000381820:G69D	G	+	2	0	NR2E3	69890964	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	5.543000	0.67225	1.828000	0.53243	0.484000	0.47621	GGC		0.672	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		10	63	0	0	0	1	0	10	63				
CYFIP2	26999	broad.mit.edu	37	5	156741989	156741989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156741989C>A	ENST00000521420.1	+	12	1256	c.1165C>A	c.(1165-1167)Ctg>Atg	p.L389M	CYFIP2_ENST00000347377.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L340M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTGGAAGCTGGTTCATCC	0.468																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1243-1245)Ctg>Atg		cytoplasmic FMR1 interacting protein 2							51.0	51.0	51.0					5																	156741989		1996	4167	6163	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156741989C>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1165C>A	5.37:g.156741989C>A	ENSP00000430904:p.Leu389Met					CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L389M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L340M	p.L415M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		13	1674	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	415						Missense_Mutation	SNP	ENST00000521420.1	37	c.1243C>A		.	.	.	.	.	.	.	.	.	.	C	24.7	4.558899	0.86231	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.91	D;D;D;D;D;D	0.85130	0.986;0.992;0.997;0.995;0.991;0.976	T	0.67337	-0.5696	10	0.62326	D	0.03	-15.5213	19.3628	0.94448	0.0:1.0:0.0:0.0	.	279;219;389;415;415;415	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	M	415;219;389;415;415;340;89	ENSP00000325817:L415M;ENSP00000428009:L219M;ENSP00000430904:L389M;ENSP00000313567:L415M;ENSP00000366799:L415M;ENSP00000444645:L340M;ENSP00000403793:L89M	ENSP00000325817:L415M	L	+	1	2	CYFIP2	156674567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.276000	0.51646	2.579000	0.87056	0.561000	0.74099	CTG		0.468	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		8	34	1	0	0.0381472	1	0.0382505	8	34				
EPHB2	2048	broad.mit.edu	37	1	23240353	23240353	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23240353G>A	ENST00000400191.3	+	17	3176	c.3158G>A	c.(3157-3159)tGc>tAc	p.C1053Y	EPHB2_ENST00000374632.3_3'UTR|RP1-74M1.3_ENST00000610135.1_lincRNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1053					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GACTGTTCTTGCGGGGGATAA	0.463																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(3157-3159)tGc>tAc		EPH receptor B2							34.0	37.0	36.0					1																	23240353		1568	3582	5150	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23240353G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.3158G>A	1.37:g.23240353G>A	ENSP00000383053:p.Cys1053Tyr					EPHB2_ENST00000374632.3_3'UTR	p.C1053Y	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	17	3176	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	1053					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.3158G>A		.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599461	0.03744	.	.	ENSG00000133216	ENST00000400191	T	0.73681	-0.77	0.688	-0.403	0.12400	.	.	.	.	.	T	0.68659	0.3025	.	.	.	0.41567	D	0.988662	P	0.39520	0.676	B	0.42343	0.384	T	0.65557	-0.6139	7	0.87932	D	0	.	.	.	.	.	1053	P29323	EPHB2_HUMAN	Y	1053	ENSP00000383053:C1053Y	ENSP00000383053:C1053Y	C	+	2	0	EPHB2	23112940	0.964000	0.33143	0.535000	0.28026	0.496000	0.33645	1.743000	0.38258	-0.191000	0.10448	0.400000	0.26472	TGC		0.463	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		6	53	0	0	0	1	0	6	53				
STRIP1	85369	broad.mit.edu	37	1	110584457	110584457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110584457C>A	ENST00000369795.3	+	8	881	c.859C>A	c.(859-861)Ctc>Atc	p.L287I	STRIP1_ENST00000369796.1_Missense_Mutation_p.L192I	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	287					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GAAGAAAGTTCTCTTGCTGCT	0.502																																						ENST00000369795.3																			0											c.(859-861)Ctc>Atc		striatin interacting protein 1							199.0	186.0	191.0					1																	110584457		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110584457C>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.859C>A	1.37:g.110584457C>A	ENSP00000358810:p.Leu287Ile					STRIP1_ENST00000369796.1_Missense_Mutation_p.L192I	p.L287I	NM_033088.2	NP_149079.2					8	881	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.859C>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158725	0.78226	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.57907	0.37;0.37	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.89601	3.045	0.80722	D	1	D;D	0.64830	0.994;0.991	D;D	0.66196	0.928;0.942	T	0.68538	-0.5382	10	0.23302	T	0.38	-21.4477	14.4562	0.67418	0.0:0.9301:0.0:0.0699	.	192;287	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	I	192;287	ENSP00000358811:L192I;ENSP00000358810:L287I	ENSP00000358810:L287I	L	+	1	0	FAM40A	110385980	0.844000	0.29557	1.000000	0.80357	0.999000	0.98932	1.430000	0.34914	2.791000	0.96007	0.655000	0.94253	CTC		0.502	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		188	742	1	0	3.27827e-89	1	4.20655e-89	188	742				
ST5	6764	broad.mit.edu	37	11	8737215	8737215	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8737215T>C	ENST00000534127.1	-	9	2165	c.1780A>G	c.(1780-1782)Aat>Gat	p.N594D	ST5_ENST00000526099.1_Missense_Mutation_p.N107D|ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D|ST5_ENST00000526757.1_Missense_Mutation_p.N174D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	594					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGTCTTCATTGAGGCTGGAG	0.657																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1780-1782)Aat>Gat		suppression of tumorigenicity 5							69.0	65.0	67.0					11																	8737215		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737215T>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1780A>G	11.37:g.8737215T>C	ENSP00000433528:p.Asn594Asp					ST5_ENST00000526757.1_Missense_Mutation_p.N174D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000526099.1_Missense_Mutation_p.N107D	p.N594D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2165	-			594					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1780A>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993474	0.54041	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060	T;T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.54	3.07	0.35406	.	0.278897	0.37136	N	0.002223	T	0.10895	0.0266	L	0.44542	1.39	0.09310	N	1	B;P;P	0.41748	0.411;0.551;0.761	B;B;B	0.40565	0.145;0.333;0.247	T	0.09907	-1.0653	10	0.33940	T	0.23	-9.1996	12.045	0.53475	0.0:0.0:0.2738:0.7262	.	107;174;594	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	D	174;594;594;66;594;107;174;66;204;66;66;83	ENSP00000435097:N174D;ENSP00000433528:N594D;ENSP00000319678:N594D;ENSP00000432887:N66D;ENSP00000350294:N594D;ENSP00000436808:N107D;ENSP00000436802:N174D;ENSP00000433588:N66D;ENSP00000437096:N66D;ENSP00000431580:N66D;ENSP00000433858:N83D	ENSP00000319678:N594D	N	-	1	0	ST5	8693791	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	1.873000	0.39558	0.330000	0.23485	0.533000	0.62120	AAT		0.657	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		101	420	0	0	0	1	0	101	420				
TBCD	6904	broad.mit.edu	37	17	80887372	80887372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80887372C>T	ENST00000355528.4	+	32	3117	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	996					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGACGGAGTCGACGGTGAGG	0.662																																						ENST00000355528.4																			0											c.(2986-2988)tCg>tTg		tubulin folding cofactor D							35.0	40.0	38.0					17																	80887372		2154	4255	6409	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80887372C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2987C>T	17.37:g.80887372C>T	ENSP00000347719:p.Ser996Leu					TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	p.S996L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		32	3117	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	996					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.2987C>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974366	0.74246	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.37411	1.2	4.67	4.67	0.58626	Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.314127	0.31061	N	0.008326	T	0.59307	0.2184	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	P;P;P	0.61070	0.814;0.883;0.876	T	0.65569	-0.6136	9	.	.	.	.	15.0761	0.72077	0.0:1.0:0.0:0.0	.	747;996;996	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	L	996;747	ENSP00000347719:S996L	.	S	+	2	0	TBCD	78480661	1.000000	0.71417	0.907000	0.35723	0.156000	0.22039	6.924000	0.75823	2.127000	0.65507	0.561000	0.74099	TCG		0.662	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		17	147	0	0	0	1	0	17	147				
ALDH1L1	10840	broad.mit.edu	37	3	125824589	125824589	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125824589G>T	ENST00000393434.2	-	22	2982	c.2633C>A	c.(2632-2634)tCt>tAt	p.S878Y	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	878	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCAAATCCAGACTGTTTGAA	0.493																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2632-2634)tCt>tAt		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						175.0	167.0	169.0					3																	125824589		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824589G>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2633C>A	3.37:g.125824589G>T	ENSP00000377083:p.Ser878Tyr					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y|ALDH1L1-AS1_ENST00000512384.1_RNA	p.S878Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2982	-			878			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2633C>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443470	0.83993	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	4.53	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.99937	4.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98922	1.0784	10	0.87932	D	0	.	14.7775	0.69740	0.0:0.0:1.0:0.0	.	777;413;878	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	Y	888;878;777;878	ENSP00000273450:S888Y;ENSP00000420293:S878Y;ENSP00000395881:S777Y;ENSP00000377083:S878Y	ENSP00000273450:S888Y	S	-	2	0	ALDH1L1	127307279	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.304000	0.96190	2.329000	0.79093	0.591000	0.81541	TCT		0.493	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		98	423	1	0	5.30763e-54	1	6.62094e-54	98	423				
PSMA5	5686	broad.mit.edu	37	1	109954798	109954798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109954798C>T	ENST00000271308.4	-	5	320	c.300G>A	c.(298-300)tgG>tgA	p.W100*	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TGTAGGTGAACCAGTGGTTCT	0.468																																						ENST00000271308.4																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(298-300)tgG>tgA		proteasome (prosome, macropain) subunit, alpha type, 5							150.0	114.0	126.0					1																	109954798		2203	4300	6503	SO:0001587	stop_gained	5686				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr1:109954798C>T	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"""Proteasome (prosome, macropain) subunits"""	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.300G>A	1.37:g.109954798C>T	ENSP00000271308:p.Trp100*					PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*|PSMA5_ENST00000490870.1_5'UTR	p.W100*	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)	5	320	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	100					B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Nonsense_Mutation	SNP	ENST00000271308.4	37	c.300G>A	CCDS799.1	.	.	.	.	.	.	.	.	.	.	c	29.6	5.020195	0.93462	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.0842	18.9585	0.92670	0.0:1.0:0.0:0.0	.	.	.	.	X	42;100	.	.	W	-	3	0	PSMA5	109756321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.795000	0.85887	2.772000	0.95346	0.651000	0.88453	TGG		0.468	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790		19	249	0	0	0	1	0	19	249				
AC015849.16	0	broad.mit.edu	37	17	34235930	34235930	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34235930G>T	ENST00000587132.1	-	0	2097																											CAGGTCCAAAGATTGAACTGT	0.468																																						ENST00000587132.1																			0																																																			0							g.chr17:34235930G>T																													17.37:g.34235930G>T														0	2097	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.468	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			58	264	1	0	4.17463e-26	1	4.80398e-26	58	264				
RILPL1	353116	broad.mit.edu	37	12	123983096	123983096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123983096G>A	ENST00000376874.4	-	4	1031	c.796C>T	c.(796-798)Cct>Tct	p.P266S	RILPL1_ENST00000340724.6_Missense_Mutation_p.P114S	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	266					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTCACCTCAGGCTCCTCCTCC	0.607																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(796-798)Cct>Tct		Rab interacting lysosomal protein-like 1							34.0	38.0	37.0					12																	123983096		2085	4218	6303	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:123983096G>A	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.796C>T	12.37:g.123983096G>A	ENSP00000366070:p.Pro266Ser					RILPL1_ENST00000340724.6_Missense_Mutation_p.P114S	p.P266S	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	4	1031	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		266					Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.796C>T	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333126	0.24167	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.19394	2.15;2.15	5.54	3.48	0.39840	.	0.650449	0.15025	N	0.284775	T	0.13372	0.0324	L	0.40543	1.245	0.58432	D	0.999999	B;B;B	0.23249	0.002;0.049;0.082	B;B;B	0.25140	0.006;0.026;0.058	T	0.06991	-1.0796	10	0.09590	T	0.72	-20.6686	3.4791	0.07595	0.1194:0.1558:0.5535:0.1713	.	242;266;115	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	S	266;114	ENSP00000366070:P266S;ENSP00000345874:P114S	ENSP00000345874:P114S	P	-	1	0	RILPL1	122549049	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	2.138000	0.42140	1.303000	0.44873	0.555000	0.69702	CCT		0.607	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		53	268	0	0	0	1	0	53	268				
SRCAP	10847	broad.mit.edu	37	16	30745907	30745907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30745907G>T	ENST00000262518.4	+	31	7085	c.6700G>T	c.(6700-6702)Gcc>Tcc	p.A2234S	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2234	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGAGACTGTGGCCAGCAAGCA	0.478																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6700-6702)Gcc>Tcc		Snf2-related CREBBP activator protein							117.0	110.0	112.0					16																	30745907		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30745907G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6700G>T	16.37:g.30745907G>T	ENSP00000262518:p.Ala2234Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S	p.A2234S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		31	7085	+			2234			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6700G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573208	0.45902	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.07688	3.17;3.17;3.17	6.04	6.04	0.98038	.	0.240983	0.29480	N	0.012035	T	0.07369	0.0186	N	0.04508	-0.205	0.30318	N	0.787897	D;D	0.56287	0.975;0.958	P;B	0.52386	0.697;0.423	T	0.27262	-1.0079	10	0.24483	T	0.36	-13.8238	12.661	0.56813	0.076:0.0:0.924:0.0	.	2172;2234	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2234;2172;2076	ENSP00000262518:A2234S;ENSP00000378499:A2172S;ENSP00000343042:A2076S	ENSP00000262518:A2234S	A	+	1	0	SRCAP	30653408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.883000	0.48554	2.873000	0.98535	0.563000	0.77884	GCC		0.478	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		104	369	1	0	3.45148e-53	1	4.30018e-53	104	369				
ZMIZ1	57178	broad.mit.edu	37	10	81037008	81037008	+	Silent	SNP	C	C	T	rs373895979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81037008C>T	ENST00000334512.5	+	8	923	c.351C>T	c.(349-351)agC>agT	p.S117S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	117					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCGCCAGAGCGATCCCCCTG	0.622																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(349-351)agC>agT		zinc finger, MIZ-type containing 1		C		1,4405	2.1+/-5.4	0,1,2202	54.0	51.0	52.0		351	-0.2	1.0	10		52	0,8600		0,0,4300	no	coding-synonymous	ZMIZ1	NM_020338.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		117/1068	81037008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81037008C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.351C>T	10.37:g.81037008C>T						ZMIZ1_ENST00000478357.1_3'UTR	p.S117S	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		8	923	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		117					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.351C>T	CCDS7357.1																																																																																				0.622	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		55	223	0	0	0	1	0	55	223				
MAB21L1	4081	broad.mit.edu	37	13	36050059	36050059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050059C>T	ENST00000379919.4	-	1	773	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	73					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.E73K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCAAATTCGGTGGGGGAG	0.577																																						ENST00000379919.4																			1	Substitution - Missense(1)	p.E73K(1)	skin(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(217-219)Gaa>Aaa		mab-21-like 1 (C. elegans)							94.0	94.0	94.0					13																	36050059		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050059C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.217G>A	13.37:g.36050059C>T	ENSP00000369251:p.Glu73Lys					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.E73K	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	773	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	73					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.217G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729709	0.89390	.	.	ENSG00000180660	ENST00000379919	T	0.11063	2.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	M	0.82323	2.585	0.80722	D	1	P	0.48230	0.907	P	0.47827	0.558	T	0.02901	-1.1096	10	0.54805	T	0.06	-0.5448	19.7375	0.96212	0.0:1.0:0.0:0.0	.	73	Q13394	MB211_HUMAN	K	73	ENSP00000369251:E73K	ENSP00000369251:E73K	E	-	1	0	MAB21L1	34948059	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	GAA		0.577	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		114	435	0	0	0	1	0	114	435				
ATR	545	broad.mit.edu	37	3	142212021	142212021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142212021C>T	ENST00000350721.4	-	35	6152	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K	ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2011	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGTTTCTTCCATAAATCGG	0.353								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6031-6033)Gaa>Aaa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							98.0	97.0	98.0					3																	142212021		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142212021C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6031G>A	3.37:g.142212021C>T	ENSP00000343741:p.Glu2011Lys					ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	p.E2011K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			35	6152	-			2011			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6031G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	36	5.767804	0.96914	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69806	-0.43;-0.43	5.71	5.71	0.89125	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78976	-0.1991	10	0.29301	T	0.29	-7.6986	19.8635	0.96793	0.0:1.0:0.0:0.0	.	2011	Q13535	ATR_HUMAN	K	2011;1947	ENSP00000343741:E2011K;ENSP00000372581:E1947K	ENSP00000343741:E2011K	E	-	1	0	ATR	143694711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	2.700000	0.92200	0.650000	0.86243	GAA		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		51	208	0	0	0	1	0	51	208				
ZBTB2	57621	broad.mit.edu	37	6	151687588	151687588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687588C>A	ENST00000325144.4	-	3	753	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAAACAAGTTCTGGAGACAGC	0.582																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(613-615)Gaa>Taa		zinc finger and BTB domain containing 2							83.0	81.0	81.0					6																	151687588		2203	4300	6503	SO:0001587	stop_gained	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687588C>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.613G>T	6.37:g.151687588C>A	ENSP00000323183:p.Glu205*						p.E205*	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	753	-			205					A8K7C7|Q5SZ81|Q9P245	Nonsense_Mutation	SNP	ENST00000325144.4	37	c.613G>T	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272898	0.95429	.	.	ENSG00000181472	ENST00000325144	.	.	.	5.35	4.47	0.54385	.	0.222278	0.46442	D	0.000293	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4356	15.4909	0.75605	0.1394:0.8606:0.0:0.0	.	.	.	.	X	205	.	ENSP00000323183:E205X	E	-	1	0	ZBTB2	151729281	1.000000	0.71417	0.462000	0.27118	0.995000	0.86356	5.102000	0.64572	1.243000	0.43853	0.561000	0.74099	GAA		0.582	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		50	277	1	0	3.21987e-24	1	3.67739e-24	50	277				
SIPA1	6494	broad.mit.edu	37	11	65408934	65408934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408934C>T	ENST00000394224.3	+	2	838	c.542C>T	c.(541-543)gCa>gTa	p.A181V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	181					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGTGGACCAGCATCCCCACCT	0.672																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(541-543)gCa>gTa		signal-induced proliferation-associated 1							52.0	54.0	53.0					11																	65408934		2200	4297	6497	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408934C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.542C>T	11.37:g.65408934C>T	ENSP00000377771:p.Ala181Val					SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A181V	p.A181V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	838	+			181					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.542C>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	2.543	-0.305860	0.05458	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.25	-0.778	0.10977	.	1.407170	0.05508	N	0.559664	T	0.53610	0.1807	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44590	-0.9318	10	0.28530	T	0.3	-4.0933	8.0908	0.30799	0.0:0.3711:0.0:0.6289	.	181;181	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	181	ENSP00000436269:A181V;ENSP00000433686:A181V;ENSP00000377771:A181V;ENSP00000377774:A181V	ENSP00000377771:A181V	A	+	2	0	SIPA1	65165510	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.035000	0.13797	-0.239000	0.09710	-0.300000	0.09419	GCA		0.672	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		56	282	0	0	0	1	0	56	282				
CCT2	10576	broad.mit.edu	37	12	69987317	69987317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69987317G>A	ENST00000299300.6	+	10	1094	c.906G>A	c.(904-906)caG>caA	p.Q302Q	CCT2_ENST00000543146.2_Silent_p.Q255Q|CCT2_ENST00000544368.2_Silent_p.Q302Q	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	302					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATCCTGAACAGCTCTTTGGTG	0.358																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(763-765)caG>caA		chaperonin containing TCP1, subunit 2 (beta)							107.0	101.0	103.0					12																	69987317		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69987317G>A	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.906G>A	12.37:g.69987317G>A						CCT2_ENST00000299300.6_Silent_p.Q302Q|CCT2_ENST00000544368.2_Silent_p.Q302Q	p.Q255Q	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1247	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		302					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.765G>A	CCDS8991.1																																																																																				0.358	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		16	347	0	0	0	1	0	16	347				
KERA	11081	broad.mit.edu	37	12	91449741	91449741	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449741T>G	ENST00000266719.3	-	2	565	c.318A>C	c.(316-318)aaA>aaC	p.K106N		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	106					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGTTGGTTATTTTGTTCTTGT	0.383																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(316-318)aaA>aaC		keratocan							146.0	134.0	138.0					12																	91449741		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449741T>G	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.318A>C	12.37:g.91449741T>G	ENSP00000266719:p.Lys106Asn						p.K106N	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	565	-			106						Missense_Mutation	SNP	ENST00000266719.3	37	c.318A>C	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284185	0.59867	.	.	ENSG00000139330	ENST00000266719	T	0.54866	0.55	6.04	3.63	0.41609	.	0.041188	0.85682	D	0.000000	T	0.54303	0.1850	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.72625	0.978	T	0.51379	-0.8713	10	0.33141	T	0.24	-36.8212	5.5376	0.17020	0.1198:0.1838:0.0:0.6964	.	106	O60938	KERA_HUMAN	N	106	ENSP00000266719:K106N	ENSP00000266719:K106N	K	-	3	2	KERA	89973872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.605000	0.36815	1.085000	0.41206	0.529000	0.55759	AAA		0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		19	519	0	0	0	1	0	19	519				
MAST4	375449	broad.mit.edu	37	5	66084525	66084525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084525C>T	ENST00000403625.2	+	3	840	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MAST4_ENST00000406039.1_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000404260.3_Missense_Mutation_p.A182V|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	182						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCGGTGGCGGGACAGGCC	0.627																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(544-546)gCg>gTg		microtubule associated serine/threonine kinase family member 4							43.0	45.0	44.0					5																	66084525		1880	4108	5988	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66084525C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.545C>T	5.37:g.66084525C>T	ENSP00000385727:p.Ala182Val					MAST4_ENST00000406039.1_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000403625.2_Missense_Mutation_p.A182V|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V	p.A182V			O15021	MAST4_HUMAN		Lung(70;0.011)	3	853	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	182					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.545C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.513808|4.513808	0.85389|0.85389	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817|ENST00000452953	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;1.47;1.48;0.94|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.452872|.	0.18800|.	N|.	0.130812|.	T|T	0.39759|0.39759	0.1090|0.1090	L|L	0.27053|0.27053	0.805|0.805	0.22666|0.22666	N|N	0.998873|0.998873	D;D|.	0.69078|.	0.997;0.991|.	P;P|.	0.56648|.	0.803;0.481|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.66056|.	D|.	0.02|.	.|.	15.9813|15.9813	0.80111|0.80111	0.0:0.8651:0.1349:0.0|0.0:0.8651:0.1349:0.0	.|.	182;182|.	E7EX28;O15021-4|.	.;.|.	V|W	182;182;182;182;54|55	ENSP00000385048:A182V;ENSP00000385727:A182V;ENSP00000385088:A182V;ENSP00000384547:A182V;ENSP00000413573:A54V|.	ENSP00000385727:A182V|.	A|R	+|+	2|1	0|2	MAST4|MAST4	66120281|66120281	0.494000|0.494000	0.26043|0.26043	0.021000|0.021000	0.16686|0.16686	0.722000|0.722000	0.41435|0.41435	2.684000|2.684000	0.46951|0.46951	2.677000|2.677000	0.91161|0.91161	0.557000|0.557000	0.71058|0.71058	GCG|CGG		0.627	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			43	241	0	0	0	1	0	43	241				
BMP5	653	broad.mit.edu	37	6	55739599	55739599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55739599A>G	ENST00000370830.3	-	1	763	c.65T>C	c.(64-66)gTg>gCg	p.V22A	BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	22					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGCATAACCCACTAGAACCCA	0.388																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(64-66)gTg>gCg		bone morphogenetic protein 5							145.0	159.0	155.0					6																	55739599		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739599A>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.65T>C	6.37:g.55739599A>G	ENSP00000359866:p.Val22Ala					BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	p.V22A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	763	-	Lung NSC(77;0.0462)		22					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.65T>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599136	0.28534	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71698	-0.59;-0.21	5.72	5.72	0.89469	.	0.153821	0.43110	D	0.000608	T	0.24967	0.0606	N	0.02539	-0.55	0.46586	D	0.999113	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.31696	-0.9934	10	0.07990	T	0.79	.	14.5622	0.68148	1.0:0.0:0.0:0.0	.	22;22	B4E0Y4;P22003	.;BMP5_HUMAN	A	22	ENSP00000359866:V22A;ENSP00000391818:V22A	ENSP00000359866:V22A	V	-	2	0	BMP5	55847558	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.979000	0.70508	2.172000	0.68678	0.533000	0.62120	GTG		0.388	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			199	947	0	0	0	1	0	199	947				
GPR149	344758	broad.mit.edu	37	3	154146651	154146651	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154146651A>G	ENST00000389740.2	-	1	853	c.754T>C	c.(754-756)Tcc>Ccc	p.S252P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	252					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTCTGGGGACAGGGAAACC	0.662																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(754-756)Tcc>Ccc		G protein-coupled receptor 149							33.0	37.0	36.0					3																	154146651		1873	4110	5983	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146651A>G	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.754T>C	3.37:g.154146651A>G	ENSP00000374390:p.Ser252Pro						p.S252P	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	853	-			252						Missense_Mutation	SNP	ENST00000389740.2	37	c.754T>C	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543435	0.27563	.	.	ENSG00000174948	ENST00000389740	T	0.38560	1.13	4.57	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.423870	0.28442	N	0.015327	T	0.25827	0.0629	L	0.31065	0.9	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.14200	-1.0481	10	0.22706	T	0.39	-0.0054	7.4261	0.27100	0.782:0.0:0.0811:0.1369	.	252	Q86SP6	GP149_HUMAN	P	252	ENSP00000374390:S252P	ENSP00000374390:S252P	S	-	1	0	GPR149	155629345	0.000000	0.05858	0.053000	0.19242	0.025000	0.11179	0.099000	0.15210	0.736000	0.32559	0.533000	0.62120	TCC		0.662	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		69	304	0	0	0	1	0	69	304				
ADAMTS12	81792	broad.mit.edu	37	5	33527431	33527431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527431G>A	ENST00000504830.1	-	24	4982	c.4647C>T	c.(4645-4647)tgC>tgT	p.C1549C	ADAMTS12_ENST00000352040.3_Silent_p.C1464C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1549	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCAGTGTCTGGCAGAAACTGG	0.443										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4645-4647)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							137.0	127.0	130.0					5																	33527431		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527431G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4647C>T	5.37:g.33527431G>A		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.C1464C	p.C1549C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			24	4982	-			1549			PLAC.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4647C>T	CCDS34140.1																																																																																				0.443	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		15	461	0	0	0	1	0	15	461				
GZF1	64412	broad.mit.edu	37	20	23350738	23350738	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350738A>C	ENST00000338121.5	+	6	1873	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	GZF1_ENST00000377051.2_Missense_Mutation_p.K599T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T|GZF1_ENST00000544236.1_Missense_Mutation_p.K123T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	599					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ATACACGATAAGAATACTCCA	0.403																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1795-1797)aAg>aCg		GDNF-inducible zinc finger protein 1							50.0	50.0	50.0					20																	23350738		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350738A>C	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1796A>C	20.37:g.23350738A>C	ENSP00000338290:p.Lys599Thr					GZF1_ENST00000377051.2_Missense_Mutation_p.K599T|GZF1_ENST00000544236.1_Missense_Mutation_p.K123T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T	p.K599T			Q9H116	GZF1_HUMAN			6	1873	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		599					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1796A>C	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671775	0.67928	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.11385	3.2;2.78;3.2;2.78	5.92	5.92	0.95590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.23330	0.0564	L	0.28740	0.885	0.51012	D	0.999908	D	0.89917	1.0	D	0.85130	0.997	T	0.01074	-1.1460	10	0.72032	D	0.01	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	599	Q9H116	GZF1_HUMAN	T	123;599;108;599	ENSP00000445458:K123T;ENSP00000338290:K599T;ENSP00000445118:K108T;ENSP00000366250:K599T	ENSP00000338290:K599T	K	+	2	0	GZF1	23298738	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.209000	0.58493	2.263000	0.75096	0.533000	0.62120	AAG		0.403	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		42	165	0	0	0	1	0	42	165				
IQGAP2	10788	broad.mit.edu	37	5	75967644	75967644	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75967644C>T	ENST00000274364.6	+	24	3201	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	IQGAP2_ENST00000379730.3_Silent_p.V470V|IQGAP2_ENST00000396234.3_Silent_p.V464V|IQGAP2_ENST00000502745.1_Silent_p.V464V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	968	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCAAGATGGTCGTCAGCTTCA	0.468																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2902-2904)gtC>gtT		IQ motif containing GTPase activating protein 2							81.0	83.0	82.0					5																	75967644		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75967644C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2904C>T	5.37:g.75967644C>T						IQGAP2_ENST00000502745.1_Silent_p.V464V|IQGAP2_ENST00000396234.3_Silent_p.V464V|IQGAP2_ENST00000379730.3_Silent_p.V470V	p.V968V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	24	3201	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	968			Ras-GAP.		A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.2904C>T	CCDS34188.1																																																																																				0.468	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		63	249	0	0	0	1	0	63	249				
FAM83D	81610	broad.mit.edu	37	20	37580769	37580769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37580769G>A	ENST00000217429.4	+	4	1495	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	455	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTCCTCGAGGAACTCAATCT	0.473																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1453-1455)gGa>gAa		family with sequence similarity 83, member D							116.0	113.0	114.0					20																	37580769		2015	4177	6192	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580769G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1454G>A	20.37:g.37580769G>A	ENSP00000217429:p.Gly485Glu						p.G485E	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1495	+		Myeloproliferative disorder(115;0.00878)	455			Ser-rich.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1454G>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451330	0.43531	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11821	2.74	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000027	T	0.28566	0.0707	M	0.72118	2.19	0.33666	D	0.610281	D	0.63880	0.993	P	0.58520	0.84	T	0.35968	-0.9767	10	0.42905	T	0.14	.	9.6484	0.39881	0.0762:0.1437:0.7801:0.0	.	455	Q9H4H8	FA83D_HUMAN	E	485;439	ENSP00000217429:G485E	ENSP00000217429:G485E	G	+	2	0	FAM83D	37014183	0.955000	0.32602	0.984000	0.44739	0.126000	0.20510	1.720000	0.38022	2.733000	0.93635	0.655000	0.94253	GGA		0.473	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			86	424	0	0	0	1	0	86	424				
DLX6	1750	broad.mit.edu	37	7	96639212	96639212	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639212G>A	ENST00000518156.2	+	3	1165	c.735G>A	c.(733-735)tcG>tcA	p.S245S	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	127					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGCCCTGTCGCCACGCTCGC	0.577																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(733-735)tcG>tcA		distal-less homeobox 6							36.0	40.0	38.0					7																	96639212		2166	4274	6440	SO:0001819	synonymous_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639212G>A		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.735G>A	7.37:g.96639212G>A						DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR	p.S245S			P56179	DLX6_HUMAN			3	1165	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		127					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	37	c.735G>A	CCDS47647.2																																																																																				0.577	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		63	233	0	0	0	1	0	63	233				
VPS25	84313	broad.mit.edu	37	17	40926673	40926673	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40926673C>A	ENST00000253794.2	+	3	249	c.209C>A	c.(208-210)cCt>cAt	p.P70H		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	70					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GGAAAGCTTCCTGTGGAGTCG	0.453																																						ENST00000253794.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.(208-210)cCt>cAt		vacuolar protein sorting 25 homolog (S. cerevisiae)							116.0	111.0	113.0					17																	40926673		2203	4300	6503	SO:0001583	missense	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40926673C>A	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.209C>A	17.37:g.40926673C>A	ENSP00000253794:p.Pro70His						p.P70H	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	3	249	+		Breast(137;0.00104)	70					B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	c.209C>A	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789884	0.90367	.	.	ENSG00000131475	ENST00000253794	T	0.44881	0.91	4.92	4.92	0.64577	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.059687	0.64402	D	0.000001	T	0.58481	0.2125	M	0.74881	2.28	0.48830	D	0.999715	D	0.57571	0.98	P	0.53360	0.724	T	0.64597	-0.6370	10	0.66056	D	0.02	-6.362	18.2978	0.90153	0.0:1.0:0.0:0.0	.	70	Q9BRG1	VPS25_HUMAN	H	70	ENSP00000253794:P70H	ENSP00000253794:P70H	P	+	2	0	VPS25	38180199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.964000	0.76061	2.559000	0.86315	0.655000	0.94253	CCT		0.453	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		5	196	1	0	5.9392e-07	1	6.14895e-07	5	196				
KIF3C	3797	broad.mit.edu	37	2	26203981	26203981	+	Missense_Mutation	SNP	G	G	A	rs150389136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26203981G>A	ENST00000264712.3	-	1	1385	c.806C>T	c.(805-807)tCg>tTg	p.S269L	KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	269	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					accgccaccCGAGGATGGTGT	0.632																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(805-807)tCg>tTg		kinesin family member 3C		G	LEU/SER	0,4398		0,0,2199	33.0	35.0	34.0		806	2.9	0.0	2	dbSNP_134	34	1,8573		0,1,4286	no	missense	KIF3C	NM_002254.6	145	0,1,6485	AA,AG,GG		0.0117,0.0,0.0077	benign	269/794	26203981	1,12971	2199	4287	6486	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203981G>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.806C>T	2.37:g.26203981G>A	ENSP00000264712:p.Ser269Leu					KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	p.S269L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1385	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		269			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.806C>T	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	1.286	-0.608905	0.03690	0.0	1.17E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72725	-0.68;-0.68	5.67	2.92	0.33932	Kinesin, motor domain (3);	1.216860	0.05796	N	0.611221	T	0.58192	0.2105	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50154	-0.8861	10	0.72032	D	0.01	.	7.063	0.25137	0.2702:0.0:0.7298:0.0	.	269;269	B7ZM25;O14782	.;KIF3C_HUMAN	L	269;75;269	ENSP00000264712:S269L;ENSP00000385030:S269L	ENSP00000264712:S269L	S	-	2	0	KIF3C	26057485	0.112000	0.22096	0.001000	0.08648	0.012000	0.07955	2.075000	0.41538	0.761000	0.33130	0.655000	0.94253	TCG		0.632	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			55	290	0	0	0	1	0	55	290				
GAN	8139	broad.mit.edu	37	16	81399055	81399055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81399055T>C	ENST00000568107.2	+	9	1636	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	492					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AACTTGCAAGTCCGAGTTCTA	0.458																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(1474-1476)Tcc>Ccc		gigaxonin							237.0	211.0	220.0					16																	81399055		2201	4300	6501	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81399055T>C	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1474T>C	16.37:g.81399055T>C	ENSP00000476795:p.Ser492Pro					GAN_ENST00000567335.1_3'UTR	p.S492P	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			9	1636	+		Colorectal(91;0.153)	492						Missense_Mutation	SNP	ENST00000568107.2	37	c.1474T>C	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117291	0.56505	.	.	ENSG00000127688	ENST00000248272	T	0.66099	-0.19	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	63.454200	0.00357	N	0.000027	T	0.73822	0.3636	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.57159	-0.7859	10	0.66056	D	0.02	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	492	Q9H2C0	GAN_HUMAN	P	492	ENSP00000248272:S492P	ENSP00000248272:S492P	S	+	1	0	GAN	79956556	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	7.749000	0.85096	2.291000	0.77112	0.533000	0.62120	TCC		0.458	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			194	643	0	0	0	1	0	194	643				
GPRASP2	114928	broad.mit.edu	37	X	101970883	101970883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970883G>T	ENST00000535209.1	+	4	1917	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.L362F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	362						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ATACTGCCTTGAAACTCAGGG	0.458																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1084-1086)ttG>ttT		G protein-coupled receptor associated sorting protein 2							86.0	80.0	82.0					X																	101970883		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970883G>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1086G>T	X.37:g.101970883G>T	ENSP00000437394:p.Leu362Phe					GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F|GPRASP2_ENST00000535209.1_Missense_Mutation_p.L362F	p.L362F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2005	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1086G>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238499	0.01493	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08102	3.13;3.13;3.13	4.2	3.34	0.38264	.	0.214477	0.23748	N	0.044960	T	0.08714	0.0216	L	0.51422	1.61	0.09310	N	1	P	0.40875	0.731	B	0.39840	0.311	T	0.20338	-1.0278	10	0.26408	T	0.33	.	9.3161	0.37934	0.1092:0.0:0.8908:0.0	.	362	Q96D09	GASP2_HUMAN	F	362	ENSP00000437872:L362F;ENSP00000437394:L362F;ENSP00000339057:L362F	ENSP00000339057:L362F	L	+	3	2	GPRASP2	101857539	0.282000	0.24268	0.236000	0.24074	0.014000	0.08584	0.221000	0.17680	1.135000	0.42183	0.600000	0.82982	TTG		0.458	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		94	362	1	0	7.79919e-48	1	9.60998e-48	94	362				
MTCH2	23788	broad.mit.edu	37	11	47657112	47657112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47657112C>T	ENST00000302503.3	-	4	448	c.291G>A	c.(289-291)gaG>gaA	p.E97E	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	97					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTTGTCACTCTCCTGGTAAT	0.393																																						ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(289-291)gaG>gaA		mitochondrial carrier 2							179.0	147.0	158.0					11																	47657112		2201	4298	6499	SO:0001819	synonymous_variant	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47657112C>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.291G>A	11.37:g.47657112C>T						MTCH2_ENST00000542981.1_5'UTR	p.E97E	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			4	448	-			97					B2R7L8	Silent	SNP	ENST00000302503.3	37	c.291G>A	CCDS7943.1																																																																																				0.393	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		40	228	0	0	0	1	0	40	228				
FASTKD3	79072	broad.mit.edu	37	5	7866895	7866895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7866895G>A	ENST00000264669.5	-	2	1438	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	434					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAATAGCACGTTTTCCAGCT	0.353																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1300-1302)aaC>aaT		FAST kinase domains 3							55.0	57.0	56.0					5																	7866895		2203	4300	6503	SO:0001819	synonymous_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7866895G>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1302C>T	5.37:g.7866895G>A						MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.N434N	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	1438	-			434					Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.1302C>T	CCDS3873.1																																																																																				0.353	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		62	289	0	0	0	1	0	62	289				
MRPS36	92259	broad.mit.edu	37	5	68524106	68524106	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524106A>G	ENST00000256441.4	+	3	256	c.186A>G	c.(184-186)ccA>ccG	p.P62P	MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	62					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GTAAATCACCAGATTTGCTGA	0.353																																						ENST00000256441.4																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7						c.(184-186)ccA>ccG		mitochondrial ribosomal protein S36							86.0	92.0	90.0					5																	68524106		2203	4300	6503	SO:0001819	synonymous_variant	92259				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr5:68524106A>G		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.186A>G	5.37:g.68524106A>G						MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	p.P62P	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)	3	256	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	62					Q9H2H4	Silent	SNP	ENST00000256441.4	37	c.186A>G	CCDS34174.1																																																																																				0.353	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	NM_033281		84	352	0	0	0	1	0	84	352				
GPRIN2	9721	broad.mit.edu	37	10	46999982	46999982	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999982C>A	ENST00000374317.1	+	3	1375	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	GPRIN2_ENST00000374314.4_Missense_Mutation_p.L368M	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368								p.L368V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGAGGTAACTCTGGGGTCCAG	0.667																																						ENST00000374314.4																			1	Substitution - Missense(1)	p.L368V(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1102-1104)Ctg>Atg		G protein regulated inducer of neurite outgrowth 2							133.0	119.0	124.0					10																	46999982		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999982C>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1102C>A	10.37:g.46999982C>A	ENSP00000363436:p.Leu368Met					GPRIN2_ENST00000374317.1_Missense_Mutation_p.L368M	p.L368M			O60269	GRIN2_HUMAN			1	2057	+			368					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.1102C>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029659	0.19512	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.25749	1.78;1.78	4.85	1.91	0.25777	.	0.253457	0.20905	N	0.083570	T	0.41305	0.1153	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.10567	-1.0624	10	0.62326	D	0.03	-5.6541	5.7221	0.17992	0.0:0.6451:0.1653:0.1896	.	368	O60269	GRIN2_HUMAN	M	368	ENSP00000363436:L368M;ENSP00000363433:L368M	ENSP00000363433:L368M	L	+	1	2	GPRIN2	46419988	0.010000	0.17322	0.088000	0.20740	0.019000	0.09904	0.134000	0.15932	0.583000	0.29574	-0.676000	0.03789	CTG		0.667	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		16	570	1	0	3.41278e-10	1	3.61262e-10	16	570				
HEATR5B	54497	broad.mit.edu	37	2	37215952	37215952	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37215952A>G	ENST00000233099.5	-	35	5843	c.5748T>C	c.(5746-5748)aaT>aaC	p.N1916N	HEATR5B_ENST00000354531.2_Silent_p.N1827N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1916						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGGGCACGATTGGAATGCT	0.363																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5746-5748)aaT>aaC		HEAT repeat containing 5B							105.0	110.0	108.0					2																	37215952		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37215952A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5748T>C	2.37:g.37215952A>G						HEATR5B_ENST00000354531.2_Silent_p.N1827N	p.N1916N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			35	5843	-		all_hematologic(82;0.21)	1916					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5748T>C	CCDS33181.1																																																																																				0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		88	320	0	0	0	1	0	88	320				
ADCY10	55811	broad.mit.edu	37	1	167863127	167863127	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167863127G>T	ENST00000367851.4	-	8	976	c.792C>A	c.(790-792)tcC>tcA	p.S264S	ADCY10_ENST00000367848.1_Silent_p.S172S|ADCY10_ENST00000545172.1_Silent_p.S111S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	264					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTGTAGGGACATCTCCA	0.468																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(514-516)tcC>tcA		adenylate cyclase 10 (soluble)							78.0	69.0	72.0					1																	167863127		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167863127G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.792C>A	1.37:g.167863127G>T						ADCY10_ENST00000545172.1_Silent_p.S111S|ADCY10_ENST00000367851.4_Silent_p.S264S	p.S172S			Q96PN6	ADCYA_HUMAN			8	1013	-			264			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.516C>A	CCDS1265.1																																																																																				0.468	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		33	142	1	0	7.11191e-15	1	7.74586e-15	33	142				
NAB2	4665	broad.mit.edu	37	12	57487215	57487215	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57487215G>A	ENST00000300131.3	+	6	1680	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	434					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGGCTGACGCCGCCCCCTG	0.652																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1300-1302)acG>acA		NGFI-A binding protein 2 (EGR1 binding protein 2)							13.0	15.0	14.0					12																	57487215		2186	4281	6467	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57487215G>A	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1302G>A	12.37:g.57487215G>A						NAB2_ENST00000342556.6_Intron|NAB2_ENST00000357680.4_3'UTR	p.T434T	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			6	1680	+			434					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.1302G>A	CCDS8930.1																																																																																				0.652	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		11	60	0	0	0	1	0	11	60				
LCK	3932	broad.mit.edu	37	1	32740348	32740348	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32740348G>A	ENST00000336890.5	+	3	254	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	LCK_ENST00000373564.3_Missense_Mutation_p.R39Q|LCK_ENST00000333070.4_Missense_Mutation_p.R39Q	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	39	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CTGCTCATCCGAAATGGCTCT	0.627			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(115-117)cGa>cAa		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						66.0	57.0	60.0					1																	32740348		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740348G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.116G>A	1.37:g.32740348G>A	ENSP00000337825:p.Arg39Gln					LCK_ENST00000336890.5_Missense_Mutation_p.R39Q|LCK_ENST00000373564.3_Missense_Mutation_p.R39Q	p.R39Q	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			3	216	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	39			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.116G>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106324	0.37145	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.66	4.66	0.58398	.	0.173117	0.31370	N	0.007762	T	0.25269	0.0614	N	0.24115	0.695	0.25230	N	0.989837	B;B;B;P	0.42692	0.154;0.414;0.014;0.787	B;B;B;B	0.26693	0.006;0.057;0.008;0.072	T	0.22521	-1.0214	10	0.10111	T	0.7	.	14.8216	0.70077	0.0:0.0:1.0:0.0	.	83;39;39;39	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	Q	39;39;39;39;39;83;83;39;83;39	ENSP00000337825:R39Q;ENSP00000431517:R39Q;ENSP00000435605:R39Q;ENSP00000434525:R39Q;ENSP00000362663:R39Q;ENSP00000436554:R83Q;ENSP00000362658:R83Q;ENSP00000328213:R39Q;ENSP00000362665:R39Q	ENSP00000328213:R39Q	R	+	2	0	LCK	32512935	0.983000	0.35010	0.663000	0.29738	0.639000	0.38242	3.079000	0.50104	2.597000	0.87782	0.555000	0.69702	CGA		0.627	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		30	243	0	0	0	1	0	30	243				
ATP8A1	10396	broad.mit.edu	37	4	42416721	42416721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42416721G>A	ENST00000381668.5	-	36	3551	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1107					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1107V(1)|p.A1092V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGCAGTTGCGCCCTCTCGGT	0.473																																						ENST00000381668.5																			2	Substitution - Missense(2)	p.A1107V(1)|p.A1092V(1)	endometrium(2)	NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3319-3321)gCg>gTg		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						116.0	108.0	111.0					4																	42416721		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42416721G>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3320C>T	4.37:g.42416721G>A	ENSP00000371084:p.Ala1107Val					ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	p.A1107V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			36	3551	-			1107					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.3320C>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684706	0.68157	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.61859	0.07;0.07	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.73217	2.22	0.80722	D	1	B;B;P	0.36222	0.181;0.343;0.544	B;B;B	0.21360	0.011;0.034;0.034	T	0.57728	-0.7761	10	0.33940	T	0.23	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1092;1107;1099	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	1107;1092	ENSP00000371084:A1107V;ENSP00000264449:A1092V	ENSP00000264449:A1092V	A	-	2	0	ATP8A1	42111478	1.000000	0.71417	0.985000	0.45067	0.927000	0.56198	8.766000	0.91728	2.636000	0.89361	0.557000	0.71058	GCG		0.473	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		87	374	0	0	0	1	0	87	374				
TPTE2	93492	broad.mit.edu	37	13	20025342	20025342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20025342C>A	ENST00000400230.2	-	11	809	c.765G>T	c.(763-765)aaG>aaT	p.K255N	TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCGATGTTTCTTATCTAGAA	0.363																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(763-765)aaG>aaT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							126.0	111.0	116.0					13																	20025342		2203	4299	6502	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20025342C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.765G>T	13.37:g.20025342C>A	ENSP00000383089:p.Lys255Asn					TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N	p.K255N			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	11	809	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	255			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.765G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	2.644	-0.283456	0.05642	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	2.63	0.805	0.18703	Phosphatase tensin type (1);	0.344519	0.30293	N	0.009953	T	0.15955	0.0384	N	0.24115	0.695	0.22581	N	0.998966	B;B;B	0.22851	0.042;0.062;0.076	B;B;B	0.28305	0.088;0.053;0.088	T	0.16276	-1.0408	9	.	.	.	-4.094	3.5972	0.08010	0.1609:0.2761:0.563:0.0	.	144;178;255	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	215;144;255;178;178;255;215;144;255;124	ENSP00000372438:K215N;ENSP00000382974:K144N;ENSP00000383089:K255N;ENSP00000255310:K178N;ENSP00000375098:K178N;ENSP00000372437:K255N;ENSP00000372435:K215N;ENSP00000442218:K144N	.	K	-	3	2	TPTE2	18923342	0.173000	0.23056	0.349000	0.25694	0.182000	0.23217	-1.029000	0.03585	0.182000	0.20032	0.194000	0.17425	AAG		0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		28	216	1	0	2.85442e-18	1	3.16582e-18	28	216				
EPS15	2060	broad.mit.edu	37	1	51937366	51937366	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51937366T>G	ENST00000371733.3	-	4	305	c.209A>C	c.(208-210)aAa>aCa	p.K70T	EPS15_ENST00000371730.2_Missense_Mutation_p.K70T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	70	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACTTACTTGTTTGTTCAGGAT	0.308			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(208-210)aAa>aCa		epidermal growth factor receptor pathway substrate 15							65.0	78.0	73.0					1																	51937366		2203	4296	6499	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51937366T>G	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.209A>C	1.37:g.51937366T>G	ENSP00000360798:p.Lys70Thr					EPS15_ENST00000371730.2_Missense_Mutation_p.K70T	p.K70T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			4	305	-			70			EH 1.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.209A>C	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439416	0.83885	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.28666	1.6;1.6	4.91	4.91	0.64330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.34386	N	0.004013	T	0.63070	0.2480	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71965	-0.4433	10	0.66056	D	0.02	.	13.9443	0.64075	0.0:0.0:0.0:1.0	.	70;70	B1AUU8;P42566	.;EPS15_HUMAN	T	70	ENSP00000360795:K70T;ENSP00000360798:K70T	ENSP00000360792:K70T	K	-	2	0	EPS15	51709954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.807000	0.75201	2.187000	0.69744	0.533000	0.62120	AAA		0.308	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		7	399	0	0	0	1	0	7	399				
AMBRA1	55626	broad.mit.edu	37	11	46419227	46419227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419227G>A	ENST00000458649.2	-	18	4088	c.3670C>T	c.(3670-3672)Cga>Tga	p.R1224*	AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1224					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTAGGCCTCGCTCTGCCAGT	0.692																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(3670-3672)Cga>Tga		autophagy/beclin-1 regulator 1							52.0	55.0	54.0					11																	46419227		2202	4299	6501	SO:0001587	stop_gained	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46419227G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3670C>T	11.37:g.46419227G>A	ENSP00000415327:p.Arg1224*					AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*	p.R1224*			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	18	4088	-			1224					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	37	c.3670C>T		.	.	.	.	.	.	.	.	.	.	G	16.65	3.182655	0.57800	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	.	.	.	5.35	5.35	0.76521	.	0.127211	0.36778	N	0.002407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4218	0.87517	0.0:0.0:1.0:0.0	.	.	.	.	X	1134;1105;1164;1195;1164;1224;182;1195	.	ENSP00000298834:R1164X	R	-	1	2	AMBRA1	46375803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.832000	0.69337	2.791000	0.96007	0.561000	0.74099	CGA		0.692	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		54	244	0	0	0	1	0	54	244				
RYR3	6263	broad.mit.edu	37	15	33895431	33895431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33895431C>T	ENST00000389232.4	+	18	2100	c.2030C>T	c.(2029-2031)cCc>cTc	p.P677L	RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	677	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAGCAGAGCCCACACATCTG	0.582																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(2029-2031)cCc>cTc		ryanodine receptor 3							153.0	159.0	157.0					15																	33895431		2008	4166	6174	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895431C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2030C>T	15.37:g.33895431C>T	ENSP00000373884:p.Pro677Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	p.P677L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2100	+		all_lung(180;7.18e-09)	677			B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2030C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168315	0.94768	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.60299	0.2;0.2	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.062563	0.64402	D	0.000004	T	0.73705	0.3621	M	0.71581	2.175	0.80722	D	1	P;D	0.58268	0.873;0.982	B;P	0.59825	0.382;0.864	T	0.76085	-0.3088	10	0.87932	D	0	.	19.3248	0.94258	0.0:1.0:0.0:0.0	.	677;677	Q15413-2;Q15413	.;RYR3_HUMAN	L	677	ENSP00000373884:P677L;ENSP00000399610:P677L	ENSP00000354735:P677L	P	+	2	0	RYR3	31682723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.549000	0.82163	2.796000	0.96246	0.597000	0.82753	CCC		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			32	938	0	0	0	1	0	32	938				
P2RX2	22953	broad.mit.edu	37	12	133196281	133196281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133196281G>T	ENST00000389110.3	+	3	363	c.326G>T	c.(325-327)aGc>aTc	p.S109I	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	109					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCGTGTTCAGCATCATCACC	0.741																																						ENST00000389110.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(325-327)aGc>aTc		purinergic receptor P2X, ligand-gated ion channel, 2							14.0	17.0	16.0					12																	133196281		2191	4279	6470	SO:0001583	missense	0				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196281G>T	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.326G>T	12.37:g.133196281G>T	ENSP00000373762:p.Ser109Ile					P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron	p.S109I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	3	363	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	109					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.326G>T	CCDS31931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.049789|3.049789	0.55218|0.55218	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000542301;ENST00000536121;ENST00000535910|ENST00000389110;ENST00000343948;ENST00000348800	.|T;T;T	.|0.03951	.|3.75;3.75;3.75	4.03|4.03	3.09|3.09	0.35607|0.35607	.|.	.|0.141387	.|0.64402	.|D	.|0.000007	T|T	0.08313|0.08313	0.0207|0.0207	M|M	0.61703|0.61703	1.905|1.905	0.42033|0.42033	D|D	0.991037|0.991037	.|P;D;P;P	.|0.53745	.|0.837;0.962;0.837;0.646	.|B;P;B;B	.|0.46825	.|0.334;0.528;0.416;0.225	T|T	0.03503|0.03503	-1.1030|-1.1030	5|10	.|0.72032	.|D	.|0.01	-32.2742|-32.2742	8.6119|8.6119	0.33808|0.33808	0.0:0.2552:0.6078:0.137|0.0:0.2552:0.6078:0.137	.|.	.|109;109;109;109	.|Q32MC3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.|.;.;P2RX2_HUMAN;.	S|I	120;95;65|109	.|ENSP00000373762:S109I;ENSP00000343339:S109I;ENSP00000345095:S109I	.|ENSP00000343339:S109I	A|S	+|+	1|2	0|0	P2RX2|P2RX2	131706354|131706354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.696000|0.696000	0.40369|0.40369	3.291000|3.291000	0.51764|0.51764	2.072000|2.072000	0.62099|0.62099	0.511000|0.511000	0.50034|0.50034	GCA|AGC		0.741	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			35	170	1	0	3.66082e-28	1	4.25431e-28	35	170				
ESRP2	80004	broad.mit.edu	37	16	68264135	68264135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264135A>C	ENST00000565858.1	-	15	2264	c.2178T>G	c.(2176-2178)tgT>tgG	p.C726W	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.C716W|RP11-96D1.10_ENST00000571975.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	726					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCTCCTACAAACACACCCATT	0.542											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(2146-2148)tgT>tgG		epithelial splicing regulatory protein 2							98.0	97.0	97.0					16																	68264135		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68264135A>C	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2178T>G	16.37:g.68264135A>C	ENSP00000454554:p.Cys726Trp		OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1105	ESRP2_ENST00000565858.1_Missense_Mutation_p.C726W	p.C716W			Q9H6T0	ESRP2_HUMAN			15	2686	-			726					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.2148T>G		.	.	.	.	.	.	.	.	.	.	A	16.08	3.020819	0.54576	.	.	ENSG00000103067	ENST00000473183	T	0.19394	2.15	6.06	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.12630	-1.0540	10	0.72032	D	0.01	-10.2521	9.6903	0.40125	0.7449:0.0:0.2551:0.0	.	726;716	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	W	716	ENSP00000418748:C716W	ENSP00000418748:C716W	C	-	3	2	ESRP2	66821636	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.587000	0.46128	0.533000	0.28675	0.533000	0.62120	TGT		0.542	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		75	353	0	0	0	1	0	75	353				
QRICH2	84074	broad.mit.edu	37	17	74276157	74276157	+	Missense_Mutation	SNP	G	G	A	rs146485823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74276157G>A	ENST00000262765.5	-	12	4386	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1403								p.R1403C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGTGGGGGGCGCTCCCTGAGC	0.682													G|||	3	0.000599042	0.0015	0.0	5008	,	,		14927	0.0		0.0	False		,,,				2504	0.001					ENST00000262765.5																			1	Substitution - Missense(1)	p.R1403C(1)	endometrium(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(4207-4209)Cgc>Tgc		glutamine rich 2		G	CYS/ARG	9,4385		0,9,2188	30.0	36.0	34.0		4207	5.6	0.9	17	dbSNP_134	34	19,8569		0,19,4275	yes	missense	QRICH2	NM_032134.1	180	0,28,6463	AA,AG,GG		0.2212,0.2048,0.2157	probably-damaging	1403/1664	74276157	28,12954	2197	4294	6491	SO:0001583	missense	84074						protein binding	g.chr17:74276157G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4207C>T	17.37:g.74276157G>A	ENSP00000262765:p.Arg1403Cys						p.R1403C	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			12	4386	-			1403					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4207C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963400	0.34659	0.002048	0.002212	ENSG00000129646	ENST00000262765	T	0.09911	2.93	5.59	5.59	0.84812	.	.	.	.	.	T	0.24122	0.0584	M	0.62723	1.935	0.37858	D	0.929631	D	0.71674	0.998	P	0.55667	0.781	T	0.01195	-1.1422	9	0.42905	T	0.14	-19.6363	15.1347	0.72555	0.0:0.0:0.8581:0.1419	.	1403	Q9H0J4	QRIC2_HUMAN	C	1403	ENSP00000262765:R1403C	ENSP00000262765:R1403C	R	-	1	0	QRICH2	71787752	0.001000	0.12720	0.892000	0.35008	0.018000	0.09664	0.765000	0.26546	2.635000	0.89317	0.655000	0.94253	CGC		0.682	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		82	374	0	0	0	1	0	82	374				
ZNF267	10308	broad.mit.edu	37	16	31925867	31925867	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31925867A>G	ENST00000300870.10	+	4	506	c.297A>G	c.(295-297)atA>atG	p.I99M	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	99					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAAAGTGATATCGAGGAGAC	0.373																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(295-297)atA>atG		zinc finger protein 267							94.0	93.0	94.0					16																	31925867		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31925867A>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.297A>G	16.37:g.31925867A>G	ENSP00000300870:p.Ile99Met					ZNF267_ENST00000394846.3_3'UTR|RP11-170L3.8_ENST00000575471.1_RNA	p.I99M	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	506	+			99					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.297A>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	3.370	-0.128715	0.06753	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.08102	3.13	0.593	-1.19	0.09585	.	.	.	.	.	T	0.08980	0.0222	L	0.41492	1.28	0.09310	N	1	P	0.51240	0.943	P	0.52598	0.703	T	0.19289	-1.0310	9	0.24483	T	0.36	.	1.5643	0.02601	0.3561:0.3213:0.0:0.3226	.	99	Q14586	ZN267_HUMAN	M	99;66	ENSP00000300870:I99M	ENSP00000300870:I99M	I	+	3	3	ZNF267	31833368	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	-0.489000	0.06490	-0.548000	0.06199	0.254000	0.18369	ATA		0.373	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		100	356	0	0	0	1	0	100	356				
TYR	7299	broad.mit.edu	37	11	89028501	89028501	+	Silent	SNP	G	G	A	rs563119570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89028501G>A	ENST00000263321.5	+	5	2059	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	519					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGGAGAAAGAGGATTACCACA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		17684	0.001		0.0	False		,,,				2504	0.0					ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1555-1557)gaG>gaA		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						13.0	15.0	14.0					11																	89028501		2143	4217	6360	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89028501G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1557G>A	11.37:g.89028501G>A							p.E519E	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			5	2059	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	519					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.1557G>A	CCDS8284.1																																																																																				0.488	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		23	141	0	0	0	1	0	23	141				
WDR26	80232	broad.mit.edu	37	1	224619244	224619244	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224619244A>C	ENST00000414423.2	-	3	755	c.562T>G	c.(562-564)Tct>Gct	p.S188A	WDR26_ENST00000366852.2_Missense_Mutation_p.S188A|WDR26_ENST00000295024.6_Missense_Mutation_p.S41A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	188	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GCATGAGGAGAATGCACTAAA	0.338																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(562-564)Tct>Gct		WD repeat domain 26							76.0	73.0	74.0					1																	224619244		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224619244A>C	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.562T>G	1.37:g.224619244A>C	ENSP00000408108:p.Ser188Ala					WDR26_ENST00000295024.6_Missense_Mutation_p.S41A|WDR26_ENST00000366852.2_Missense_Mutation_p.S188A	p.S188A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	3	755	-			188			CTLH.		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.562T>G	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943220	0.73672	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000366852;ENST00000445239	T;T	0.68624	-0.34;-0.06	5.59	5.59	0.84812	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.77103	2.36	0.50632	D	0.999889	B;B	0.29188	0.185;0.236	B;B	0.23716	0.032;0.048	T	0.64407	-0.6415	10	0.23302	T	0.38	.	15.7686	0.78146	1.0:0.0:0.0:0.0	.	188;188	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	A	188;41;188;41	ENSP00000408108:S188A;ENSP00000295024:S41A	ENSP00000295024:S41A	S	-	1	0	WDR26	222685867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.107000	0.71517	2.122000	0.65172	0.460000	0.39030	TCT		0.338	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		12	172	0	0	0	1	0	12	172				
PEX6	5190	broad.mit.edu	37	6	42933437	42933437	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42933437G>T	ENST00000304611.8	-	13	2522	c.2453C>A	c.(2452-2454)tCt>tAt	p.S818Y	PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	818					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CACTCCTCCAGAATCTCCACT	0.547																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(2452-2454)tCt>tAt		peroxisomal biogenesis factor 6							174.0	191.0	185.0					6																	42933437		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42933437G>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2453C>A	6.37:g.42933437G>T	ENSP00000303511:p.Ser818Tyr					PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	p.S818Y	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		13	2522	-			818					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2453C>A	CCDS4877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870906|4.870906	0.91587|0.91587	.|.	.|.	ENSG00000124587|ENSG00000124587	ENST00000244546|ENST00000304611	D|D	0.95690|0.95272	-3.78|-3.66	5.76|5.76	5.76|5.76	0.90799|0.90799	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97498|0.97498	0.9181|0.9181	M|M	0.85859|0.85859	2.78|2.78	0.37998|0.37998	D|D	0.934132|0.934132	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98231|0.98231	1.0483|1.0483	7|10	0.44086|0.87932	T|D	0.13|0	-15.747|-15.747	19.5876|19.5876	0.95496|0.95496	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818	.|Q13608	.|PEX6_HUMAN	M|Y	736|818	ENSP00000244546:L736M|ENSP00000303511:S818Y	ENSP00000244546:L736M|ENSP00000303511:S818Y	L|S	-|-	1|2	2|0	PEX6|PEX6	43041415|43041415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.842000|9.842000	0.99487|0.99487	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CTG|TCT		0.547	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		271	1359	1	0	3.06621e-78	1	3.91588e-78	271	1359				
ALDH16A1	126133	broad.mit.edu	37	19	49971803	49971803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49971803C>A	ENST00000293350.4	+	15	2267	c.2104C>A	c.(2104-2106)Ctg>Atg	p.L702M	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	702						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGTCCTCTGCTGGCCCTGGA	0.667																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(2104-2106)Ctg>Atg		aldehyde dehydrogenase 16 family, member A1							95.0	100.0	99.0					19																	49971803		2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49971803C>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2104C>A	19.37:g.49971803C>A	ENSP00000293350:p.Leu702Met					ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|CTD-3148I10.9_ENST00000599536.1_Intron	p.L702M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	15	2267	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	702					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.2104C>A	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356634	0.24598	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.21	1.93	0.25924	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.190007	0.45606	D	0.000358	T	0.31482	0.0798	L	0.41492	1.28	0.22911	N	0.998579	P;D;P	0.53885	0.923;0.963;0.937	P;P;P	0.54629	0.621;0.757;0.739	T	0.06679	-1.0813	10	0.48119	T	0.1	-10.9114	4.8466	0.13516	0.0:0.6511:0.217:0.1319	.	539;651;702	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	M	702;651;539;537	ENSP00000293350:L702M;ENSP00000410142:L651M;ENSP00000445088:L539M;ENSP00000398675:L537M	ENSP00000293350:L702M	L	+	1	2	ALDH16A1	54663615	0.969000	0.33509	0.985000	0.45067	0.028000	0.11728	2.083000	0.41615	0.450000	0.26774	-0.494000	0.04653	CTG		0.667	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		168	739	1	0	4.53004e-87	1	5.80951e-87	168	739				
LRRN4	164312	broad.mit.edu	37	20	6031566	6031566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6031566C>T	ENST00000378858.4	-	3	943	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	240					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGTCGTCAGCCGAGGCATCTT	0.557																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(718-720)cGg>cAg		leucine rich repeat neuronal 4							90.0	82.0	85.0					20																	6031566		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6031566C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.719G>A	20.37:g.6031566C>T	ENSP00000368135:p.Arg240Gln						p.R240Q	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			3	943	-			240					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.719G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253455	0.39797	.	.	ENSG00000125872	ENST00000378858	T	0.57907	0.37	5.68	2.71	0.32032	.	0.462660	0.21634	N	0.071421	T	0.29945	0.0749	N	0.21097	0.63	0.27634	N	0.947921	B;B	0.33000	0.393;0.185	B;B	0.22601	0.04;0.012	T	0.11179	-1.0598	10	0.33940	T	0.23	-10.6573	5.7998	0.18408	0.1248:0.6111:0.0:0.264	.	240;240	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	Q	240	ENSP00000368135:R240Q	ENSP00000368135:R240Q	R	-	2	0	LRRN4	5979566	0.059000	0.20769	0.998000	0.56505	0.678000	0.39670	0.198000	0.17217	0.347000	0.23924	-0.320000	0.08662	CGG		0.557	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		8	289	0	0	0	1	0	8	289				
CACNA1S	779	broad.mit.edu	37	1	201035407	201035407	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035407G>T	ENST00000362061.3	-	21	2921	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	899					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCACCCTCAGCACCCTCAGG	0.652																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(2695-2697)Ctg>Atg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						72.0	73.0	73.0					1																	201035407		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201035407G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2695C>A	1.37:g.201035407G>T	ENSP00000355192:p.Leu899Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	p.L899M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			21	2921	-			899					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2695C>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305376	0.60305	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.99089	-5.41;-5.41	3.91	2.98	0.34508	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99221	0.9729	M	0.88906	2.99	0.44976	D	0.997993	D	0.63046	0.992	D	0.74674	0.984	D	0.99572	1.0971	10	0.87932	D	0	.	11.5358	0.50636	0.0904:0.0:0.9096:0.0	.	899	Q13698	CAC1S_HUMAN	M	899	ENSP00000355192:L899M;ENSP00000356307:L899M	ENSP00000355192:L899M	L	-	1	2	CACNA1S	199302030	1.000000	0.71417	0.985000	0.45067	0.847000	0.48162	3.109000	0.50345	0.741000	0.32674	0.455000	0.32223	CTG		0.652	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		90	442	1	0	3.07327e-39	1	3.71448e-39	90	442				
INTS1	26173	broad.mit.edu	37	7	1542716	1542716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1542716C>T	ENST00000404767.3	-	3	255	c.170G>A	c.(169-171)cGc>cAc	p.R57H	INTS1_ENST00000389470.4_Missense_Mutation_p.R185H|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	57					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCCCGCTTGCGCTCAGAAGG	0.647																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(553-555)cGc>cAc		integrator complex subunit 1							57.0	68.0	64.0					7																	1542716		2013	4166	6179	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542716C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.170G>A	7.37:g.1542716C>T	ENSP00000385722:p.Arg57His					INTS1_ENST00000404767.3_Missense_Mutation_p.R57H	p.R185H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	553	-		Ovarian(82;0.0253)	57					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.554G>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379939	0.95945	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.52526	0.66;0.68	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.949;0.98	T	0.69989	-0.4995	10	0.87932	D	0	.	16.3381	0.83073	0.0:1.0:0.0:0.0	.	185;57	A4D212;Q8N201	.;INT1_HUMAN	H	57;185	ENSP00000385722:R57H;ENSP00000374121:R185H	ENSP00000374121:R185H	R	-	2	0	INTS1	1509242	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.190000	0.77755	2.374000	0.81015	0.563000	0.77884	CGC		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			100	444	0	0	0	1	0	100	444				
ZZEF1	23140	broad.mit.edu	37	17	3977461	3977461	+	Missense_Mutation	SNP	G	G	A	rs183088585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3977461G>A	ENST00000381638.2	-	24	3792	c.3668C>T	c.(3667-3669)gCg>gTg	p.A1223V	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1223							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGACTTGAGCGCCATGCACTG	0.597																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3667-3669)gCg>gTg		zinc finger, ZZ-type with EF-hand domain 1							107.0	105.0	106.0					17																	3977461		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3977461G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3668C>T	17.37:g.3977461G>A	ENSP00000371051:p.Ala1223Val						p.A1223V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			24	3792	-			1223					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.3668C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378065	0.95945	.	.	ENSG00000074755	ENST00000381638	T	0.23950	1.88	5.87	5.87	0.94306	.	0.049827	0.85682	D	0.000000	T	0.43122	0.1233	L	0.57536	1.79	0.58432	D	0.999999	D	0.69078	0.997	P	0.53809	0.735	T	0.20405	-1.0276	10	0.66056	D	0.02	-9.3989	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1223	O43149	ZZEF1_HUMAN	V	1223	ENSP00000371051:A1223V	ENSP00000371051:A1223V	A	-	2	0	ZZEF1	3924210	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	7.516000	0.81772	2.780000	0.95670	0.655000	0.94253	GCG		0.597	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		147	620	0	0	0	1	0	147	620				
TBCCD1	55171	broad.mit.edu	37	3	186272090	186272090	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186272090C>T	ENST00000424280.1	-	6	1976	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	TBCCD1_ENST00000446782.1_Silent_p.Q403Q|TBCCD1_ENST00000338733.5_Silent_p.Q499Q|TBCCD1_ENST00000479590.1_5'UTR	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	499					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCTGTATCTTCTGTTCTCTTT	0.393																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(1495-1497)caG>caA		TBCC domain containing 1							82.0	90.0	87.0					3																	186272090		2203	4300	6503	SO:0001819	synonymous_variant	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186272090C>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1497G>A	3.37:g.186272090C>T						TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000338733.5_Silent_p.Q499Q|TBCCD1_ENST00000446782.1_Silent_p.Q403Q	p.Q499Q	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	6	1976	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		499					B3KW69|D3DNU6|G5E9J4	Silent	SNP	ENST00000424280.1	37	c.1497G>A	CCDS3276.1																																																																																				0.393	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		129	597	0	0	0	1	0	129	597				
ACTN2	88	broad.mit.edu	37	1	236850067	236850067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850067C>A	ENST00000366578.4	+	1	260	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	32	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGACCTGCTCCTGGACCCAGC	0.692																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(94-96)Ctg>Atg		actinin, alpha 2							45.0	40.0	42.0					1																	236850067		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236850067C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.94C>A	1.37:g.236850067C>A	ENSP00000355537:p.Leu32Met					ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M|ACTN2_ENST00000492634.1_3'UTR	p.L32M	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		1	260	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	32			Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.94C>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475923	0.63737	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.62498	0.02;0.02	3.81	3.81	0.43845	Calponin homology domain (1);	0.000000	0.64402	D	0.000004	T	0.75451	0.3851	M	0.86805	2.84	0.80722	D	1	D;P	0.54964	0.969;0.799	P;B	0.59595	0.86;0.226	T	0.78523	-0.2171	10	0.87932	D	0	.	7.4471	0.27217	0.0:0.8051:0.0:0.1949	.	32;32	B2RCS5;P35609	.;ACTN2_HUMAN	M	32	ENSP00000443495:L32M;ENSP00000355537:L32M	ENSP00000355537:L32M	L	+	1	2	ACTN2	234916690	0.868000	0.29978	0.996000	0.52242	0.932000	0.56968	1.658000	0.37376	1.944000	0.56390	0.462000	0.41574	CTG		0.692	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		37	141	1	0	2.40579e-17	1	2.65515e-17	37	141				
CEP152	22995	broad.mit.edu	37	15	49064784	49064784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064784C>T	ENST00000380950.2	-	13	1869	c.1682G>A	c.(1681-1683)cGt>cAt	p.R561H	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.R468H|CEP152_ENST00000399334.3_Missense_Mutation_p.R561H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	561					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CACCAGATGACGCTTCATTGA	0.398																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1681-1683)cGt>cAt		centrosomal protein 152kDa							174.0	158.0	163.0					15																	49064784		1913	4135	6048	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064784C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1682G>A	15.37:g.49064784C>T	ENSP00000370337:p.Arg561His					CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.R468H|CEP152_ENST00000399334.3_Missense_Mutation_p.R561H	p.R561H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1869	-		all_lung(180;0.0428)	561					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1682G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052836	0.93793	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.84070	-1.8;-1.8;-1.8	5.78	5.78	0.91487	.	0.054450	0.64402	D	0.000001	D	0.90950	0.7155	M	0.76002	2.32	0.45515	D	0.998477	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.988;0.999	D	0.90165	0.4231	10	0.49607	T	0.09	-7.1829	18.1631	0.89716	0.0:1.0:0.0:0.0	.	468;561;561	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	561;468;561;561	ENSP00000370337:R561H;ENSP00000321000:R468H;ENSP00000382271:R561H	ENSP00000321000:R468H	R	-	2	0	CEP152	46852076	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	5.202000	0.65169	2.894000	0.99253	0.591000	0.81541	CGT		0.398	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		73	451	0	0	0	1	0	73	451				
SFTPA1	653509	broad.mit.edu	37	10	81372118	81372118	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81372118C>T	ENST00000398636.3	+	4	361	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	SFTPA1_ENST00000428376.2_Silent_p.L75L|SFTPA1_ENST00000419470.2_Silent_p.L90L|SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000372313.5_Silent_p.L16L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	75	Collagen-like.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAATGATGGGCTGCCTGGAGC	0.607																																						ENST00000398636.3																			0				endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(223-225)Ctg>Ttg		surfactant protein A1							146.0	156.0	153.0					10																	81372118		2203	4296	6499	SO:0001819	synonymous_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81372118C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.223C>T	10.37:g.81372118C>T						SFTPA1_ENST00000419470.2_Silent_p.L90L|SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000428376.2_Silent_p.L75L|SFTPA1_ENST00000372313.5_Silent_p.L16L	p.L75L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		4	361	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		75			Collagen-like.		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	37	c.223C>T	CCDS44445.1																																																																																				0.607	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		179	770	0	0	0	1	0	179	770				
PAFAH2	5051	broad.mit.edu	37	1	26301077	26301077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301077C>A	ENST00000374282.3	-	9	1002	c.823G>T	c.(823-825)Gga>Tga	p.G275*	PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	275					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAGGTCCTCGGGCCTTG	0.468																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(823-825)Gga>Tga		platelet-activating factor acetylhydrolase 2, 40kDa							97.0	90.0	93.0					1																	26301077		2203	4300	6503	SO:0001587	stop_gained	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26301077C>A	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.823G>T	1.37:g.26301077C>A	ENSP00000363400:p.Gly275*					PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	p.G275*	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	9	1002	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	275					D3DPK1|O15458|Q5SY02	Nonsense_Mutation	SNP	ENST00000374282.3	37	c.823G>T	CCDS270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498422	0.97616	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	.	.	.	5.72	5.72	0.89469	.	0.212193	0.34652	N	0.003796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.367	8.43	0.32753	0.0:0.7621:0.1569:0.081	.	.	.	.	X	275	.	ENSP00000363400:G275X	G	-	1	0	PAFAH2	26173664	0.969000	0.33509	1.000000	0.80357	0.983000	0.72400	1.340000	0.33896	2.715000	0.92844	0.650000	0.86243	GGA		0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		18	207	1	0	3.41278e-10	1	3.61262e-10	18	207				
NFIB	4781	broad.mit.edu	37	9	14307409	14307409	+	Silent	SNP	C	C	T	rs545983563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14307409C>T	ENST00000380959.3	-	2	614	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000397575.3_Silent_p.K47K|NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	47					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTGACATTCGCTTCTCATGCT	0.458			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(139-141)aaG>aaA		nuclear factor I/B							137.0	127.0	131.0					9																	14307409		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307409C>T	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.141G>A	9.37:g.14307409C>T						NFIB_ENST00000397575.3_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K|NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K	p.K47K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	614	-			47					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.141G>A	CCDS6474.1																																																																																				0.458	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		63	252	0	0	0	1	0	63	252				
ACADS	35	broad.mit.edu	37	12	121175748	121175748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121175748C>T	ENST00000242592.4	+	5	732	c.581C>T	c.(580-582)gCt>gTt	p.A194V	ACADS_ENST00000411593.2_Intron|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	194					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GAGGCTTCGGCTGCCGTGGTC	0.617																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.(580-582)gCt>gTt		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						56.0	57.0	57.0					12																	121175748		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121175748C>T	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.581C>T	12.37:g.121175748C>T	ENSP00000242592:p.Ala194Val					ACADS_ENST00000411593.2_Intron	p.A194V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			5	732	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	194					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.581C>T	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429904	0.62844	.	.	ENSG00000122971	ENST00000242592	D	0.94828	-3.53	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	N	0.02266	-0.62	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.008	T	0.80852	-0.1197	10	0.05959	T	0.93	.	18.1749	0.89758	0.0:1.0:0.0:0.0	.	194;194	E5KSD5;P16219	.;ACADS_HUMAN	V	194	ENSP00000242592:A194V	ENSP00000242592:A194V	A	+	2	0	ACADS	119660131	1.000000	0.71417	0.282000	0.24776	0.900000	0.52787	7.459000	0.80802	2.288000	0.76882	0.462000	0.41574	GCT		0.617	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		75	346	0	0	0	1	0	75	346				
NPAS3	64067	broad.mit.edu	37	14	34269138	34269138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269138C>T	ENST00000356141.4	+	12	1625	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V|NPAS3_ENST00000346562.2_Missense_Mutation_p.A510V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	542					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACCCCAAGGCGGGCGAGGAC	0.632																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1528-1530)gCg>gTg		neuronal PAS domain protein 3							56.0	60.0	58.0					14																	34269138		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269138C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1625C>T	14.37:g.34269138C>T	ENSP00000348460:p.Ala542Val					NPAS3_ENST00000356141.4_Missense_Mutation_p.A542V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V	p.A510V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1603	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		542					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1529C>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187001	0.57909	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71698	-0.59;3.25;3.25;3.25;3.25;3.11	5.14	3.29	0.37713	.	0.261252	0.37012	N	0.002292	T	0.52075	0.1712	N	0.08118	0	0.80722	D	1	D;P;D;D	0.54601	0.967;0.944;0.967;0.967	P;B;P;P	0.46026	0.501;0.304;0.501;0.501	T	0.52895	-0.8514	10	0.46703	T	0.11	.	9.3778	0.38295	0.0:0.6552:0.2712:0.0736	.	512;542;510;529	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	516;547;510;512;542;529	ENSP00000448373:A516V;ENSP00000450392:A547V;ENSP00000319610:A510V;ENSP00000448916:A512V;ENSP00000348460:A542V;ENSP00000350446:A529V	ENSP00000319610:A510V	A	+	2	0	NPAS3	33338889	0.936000	0.31750	0.942000	0.38095	0.980000	0.70556	1.980000	0.40618	0.531000	0.28639	0.555000	0.69702	GCG		0.632	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			53	229	0	0	0	1	0	53	229				
NRP2	8828	broad.mit.edu	37	2	206659634	206659634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659634G>A	ENST00000357785.5	+	17	2664	c.2633G>A	c.(2632-2634)tGt>tAt	p.C878Y	NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y|NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y|NRP2_ENST00000360409.3_Missense_Mutation_p.C883Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGGGCCACCTGTGCAGGCCTC	0.592																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2647-2649)tGt>tAt		neuropilin 2							99.0	88.0	92.0					2																	206659634		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206659634G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2633G>A	2.37:g.206659634G>A	ENSP00000350432:p.Cys878Tyr					NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y|NRP2_ENST00000357785.5_Missense_Mutation_p.C878Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y|NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y	p.C883Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			17	3439	+			883					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2648G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123578	0.77436	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.94000	-2.98;-2.98;-3.33;-3.03;-3.28	6.17	6.17	0.99709	Neuropilin-1, C-terminal (1);	0.283286	0.45867	D	0.000335	D	0.96445	0.8840	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96002	0.8994	10	0.87932	D	0	-20.5075	20.8794	0.99867	0.0:0.0:1.0:0.0	.	861;878;883	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	883;878;861;878;861	ENSP00000353582:C883Y;ENSP00000439658:C878Y;ENSP00000439261:C861Y;ENSP00000350432:C878Y;ENSP00000407626:C861Y	ENSP00000350432:C878Y	C	+	2	0	NRP2	206367879	1.000000	0.71417	0.917000	0.36280	0.669000	0.39330	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGT		0.592	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			96	488	0	0	0	1	0	96	488				
EVPL	2125	broad.mit.edu	37	17	74003780	74003780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003780C>T	ENST00000301607.3	-	22	5759	c.5506G>A	c.(5506-5508)Gac>Aac	p.D1836N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1836	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACTTGTTGTCTGTGGTTGTG	0.612																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5506-5508)Gac>Aac		envoplakin							139.0	145.0	143.0					17																	74003780		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003780C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5506G>A	17.37:g.74003780C>T	ENSP00000301607:p.Asp1836Asn					EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N	p.D1836N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5759	-			1836			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5506G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446603	0.63178	.	.	ENSG00000167880	ENST00000301607	T	0.70986	-0.53	5.48	4.51	0.55191	.	0.103125	0.64402	D	0.000005	T	0.78444	0.4284	L	0.50333	1.59	0.38780	D	0.954754	D;B	0.89917	1.0;0.241	D;B	0.75484	0.986;0.178	T	0.78715	-0.2096	10	0.37606	T	0.19	-45.0987	12.4161	0.55494	0.0:0.86:0.0:0.14	.	1858;1836	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1836	ENSP00000301607:D1836N	ENSP00000301607:D1836N	D	-	1	0	EVPL	71515375	0.866000	0.29940	0.651000	0.29564	0.948000	0.59901	1.741000	0.38238	1.306000	0.44926	0.561000	0.74099	GAC		0.612	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		97	1045	0	0	0	1	0	97	1045				
SENP7	57337	broad.mit.edu	37	3	101085608	101085608	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101085608T>C	ENST00000394095.2	-	9	1037	c.984A>G	c.(982-984)aaA>aaG	p.K328K	SENP7_ENST00000394091.1_Silent_p.K164K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000348610.3_Silent_p.K295K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	328						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CATCTTCTTGTTTTTTCTAAA	0.274																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(982-984)aaA>aaG		SUMO1/sentrin specific peptidase 7							66.0	65.0	66.0					3																	101085608		2203	4299	6502	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101085608T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.984A>G	3.37:g.101085608T>C						SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000348610.3_Silent_p.K295K|SENP7_ENST00000394091.1_Silent_p.K164K	p.K328K	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			9	1037	-			328					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.984A>G	CCDS2941.2																																																																																				0.274	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		21	212	0	0	0	1	0	21	212				
HTR7	3363	broad.mit.edu	37	10	92508676	92508676	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92508676A>G	ENST00000336152.3	-	2	1241	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	HTR7_ENST00000277874.6_Silent_p.N405N|HTR7_ENST00000371721.3_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	405					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCGGTTGATATTCCGGTACT	0.498																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1213-1215)aaT>aaC		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						129.0	135.0	133.0					10																	92508676		2203	4300	6503	SO:0001819	synonymous_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508676A>G	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1215T>C	10.37:g.92508676A>G						HTR7_ENST00000336152.3_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N|HTR7_ENST00000277874.6_Silent_p.N405N	p.N405N			P34969	5HT7R_HUMAN			2	1457	-			405					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	c.1215T>C	CCDS7408.1																																																																																				0.498	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		100	855	0	0	0	1	0	100	855				
WDR19	57728	broad.mit.edu	37	4	39219675	39219675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39219675C>T	ENST00000399820.3	+	14	1583	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	WDR19_ENST00000506503.1_Silent_p.A475A|WDR19_ENST00000288634.7_Missense_Mutation_p.R317C	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	477					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGATAAGTGCCGTATCTTATG	0.368																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1429-1431)Cgt>Tgt		WD repeat domain 19							267.0	265.0	265.0					4																	39219675		1919	4127	6046	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39219675C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1429C>T	4.37:g.39219675C>T	ENSP00000382717:p.Arg477Cys					WDR19_ENST00000506503.1_Silent_p.A475A|WDR19_ENST00000288634.7_Missense_Mutation_p.R317C	p.R477C	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			14	1583	+			477					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.1429C>T	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350198	0.82132	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.96104	-3.91;-3.91	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050040	0.85682	D	0.000000	D	0.95884	0.8660	L	0.61036	1.89	0.58432	D	0.999994	D	0.71674	0.998	P	0.54924	0.764	D	0.95584	0.8649	10	0.59425	D	0.04	-16.209	12.9712	0.58513	0.2828:0.7172:0.0:0.0	.	477	Q8NEZ3	WDR19_HUMAN	C	477;317	ENSP00000382717:R477C;ENSP00000288634:R317C	ENSP00000288634:R317C	R	+	1	0	WDR19	38896070	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.823000	0.55715	2.600000	0.87896	0.491000	0.48974	CGT		0.368	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			32	969	0	0	0	1	0	32	969				
SLC25A2	83884	broad.mit.edu	37	5	140683087	140683087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683087C>T	ENST00000239451.4	-	1	525	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	116					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AATGCAGAGGCGAAGGACCCC	0.542																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(346-348)Gcc>Acc		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						86.0	93.0	91.0					5																	140683087		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683087C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.346G>A	5.37:g.140683087C>T	ENSP00000239451:p.Ala116Thr						p.A116T	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	525	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	116					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.346G>A	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308083	0.60305	.	.	ENSG00000120329	ENST00000239451	D	0.87650	-2.28	3.78	3.78	0.43462	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	M	0.86953	2.85	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.93631	0.6956	10	0.54805	T	0.06	-21.1689	13.9383	0.64039	0.0:1.0:0.0:0.0	.	116	Q9BXI2	ORNT2_HUMAN	T	116	ENSP00000239451:A116T	ENSP00000239451:A116T	A	-	1	0	SLC25A2	140663271	1.000000	0.71417	0.535000	0.28026	0.009000	0.06853	6.932000	0.75869	2.424000	0.82194	0.650000	0.86243	GCC		0.542	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		44	642	0	0	0	1	0	44	642				
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A	rs182361575	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R577W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17657	0.001		0.0	False		,,,				2504	0.0					ENST00000354960.3																			1	Substitution - Missense(1)	p.R577W(1)	large_intestine(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1729-1731)Cgg>Tgg		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						126.0	118.0	121.0					4																	120446754		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120446754G>A	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1729C>T	4.37:g.120446754G>A	ENSP00000347046:p.Arg577Trp					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000512739.1_5'UTR	p.R577W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			12	2048	-			577					A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1729C>T	CCDS3713.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	18.97	3.734815	0.69189	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.50277	0.75;0.75;0.75	5.06	4.21	0.49690	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.115584	0.64402	D	0.000010	T	0.72961	0.3526	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77991	-0.2379	10	0.72032	D	0.01	.	17.7073	0.88312	0.0:0.0:0.8745:0.1255	.	577;535	O76074;O76074-2	PDE5A_HUMAN;.	W	577;525;535	ENSP00000347046:R577W;ENSP00000377957:R525W;ENSP00000264805:R535W	ENSP00000264805:R535W	R	-	1	2	PDE5A	120666202	1.000000	0.71417	0.991000	0.47740	0.884000	0.51177	8.023000	0.88764	0.543000	0.28864	-0.808000	0.03180	CGG		0.448	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		55	281	0	0	0	1	0	55	281				
TOR4A	54863	broad.mit.edu	37	9	140174189	140174189	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140174189C>A	ENST00000357503.2	+	2	1244	c.1048C>A	c.(1048-1050)Cgg>Agg	p.R350R		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	350					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										TGTGCTGTCCCGGGAGCATCC	0.726																																						ENST00000357503.2																			0											c.(1048-1050)Cgg>Agg		torsin family 4, member A							7.0	8.0	8.0					9																	140174189		2162	4252	6414	SO:0001819	synonymous_variant	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140174189C>A	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.1048C>A	9.37:g.140174189C>A							p.R350R	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	1244	+			350					A2BFA4	Silent	SNP	ENST00000357503.2	37	c.1048C>A	CCDS7041.1																																																																																				0.726	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		4	52	1	0	0.00909568	1	0.00914726	4	52				
PI4KA	5297	broad.mit.edu	37	22	21150489	21150489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21150489C>T	ENST00000572273.1	-	18	2278	c.2048G>A	c.(2047-2049)gGg>gAg	p.G683E	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.G741E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	683					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCCTCCAGCCCCAGCTGCAC	0.587																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(2221-2223)gGg>gAg		phosphatidylinositol 4-kinase, catalytic, alpha							91.0	66.0	75.0					22																	21150489		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21150489C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2048G>A	22.37:g.21150489C>T	ENSP00000458238:p.Gly683Glu					PI4KA_ENST00000572273.1_Missense_Mutation_p.G683E	p.G741E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		18	2308	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	683					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.2222G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.073799	0.94000	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83935	0.0308	9	0.87932	D	0	-24.2467	17.6482	0.88154	0.0:1.0:0.0:0.0	.	683	P42356	PI4KA_HUMAN	E	683	.	ENSP00000255882:G683E	G	-	2	0	PI4KA	19480489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.597000	0.82733	2.402000	0.81655	0.591000	0.81541	GGG		0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		23	157	0	0	0	1	0	23	157				
GZF1	64412	broad.mit.edu	37	20	23350348	23350348	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350348C>T	ENST00000338121.5	+	5	1832	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	GZF1_ENST00000377051.2_Silent_p.T585T|GZF1_ENST00000542987.1_Silent_p.T94T|GZF1_ENST00000544236.1_Silent_p.T109T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	585					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGACATTCACCGACAAGTCCA	0.572																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1753-1755)acC>acT		GDNF-inducible zinc finger protein 1							99.0	79.0	86.0					20																	23350348		2203	4300	6503	SO:0001819	synonymous_variant	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350348C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1755C>T	20.37:g.23350348C>T						GZF1_ENST00000377051.2_Silent_p.T585T|GZF1_ENST00000544236.1_Silent_p.T109T|GZF1_ENST00000542987.1_Silent_p.T94T	p.T585T			Q9H116	GZF1_HUMAN			5	1832	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		585					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	c.1755C>T	CCDS13151.1																																																																																				0.572	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		75	356	0	0	0	1	0	75	356				
PRDM2	7799	broad.mit.edu	37	1	14109100	14109100	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14109100T>G	ENST00000235372.7	+	8	5666	c.4810T>G	c.(4810-4812)Tcc>Gcc	p.S1604A	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCTCAGCTTTCCAGCAAAAC	0.453																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4810-4812)Tcc>Gcc		PR domain containing 2, with ZNF domain							74.0	75.0	74.0					1																	14109100		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14109100T>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4810T>G	1.37:g.14109100T>G	ENSP00000235372:p.Ser1604Ala					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A	p.S1604A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5666	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1604					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4810T>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	0.736	-0.778059	0.02929	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01505	4.94;4.82;4.83;4.83	6.07	2.34	0.29019	.	0.425927	0.25929	N	0.027383	T	0.01124	0.0037	N	0.17674	0.51	0.09310	N	1	B;B;B	0.22683	0.073;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.001	T	0.48490	-0.9031	10	0.05620	T	0.96	.	8.4467	0.32847	0.1201:0.0:0.4366:0.4433	.	1462;1604;1604	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	A	1604;1604;1604;1403;1403	ENSP00000235372:S1604A;ENSP00000312352:S1604A;ENSP00000411103:S1403A;ENSP00000341621:S1403A	ENSP00000235372:S1604A	S	+	1	0	PRDM2	13981687	0.000000	0.05858	0.741000	0.31004	0.125000	0.20455	0.034000	0.13776	0.540000	0.28808	0.533000	0.62120	TCC		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		36	293	0	0	0	1	0	36	293				
DNAH1	25981	broad.mit.edu	37	3	52425296	52425296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52425296C>T	ENST00000420323.2	+	62	10104	c.9843C>T	c.(9841-9843)aaC>aaT	p.N3281N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3346	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGAGAACGTGGGCGAGG	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(9841-9843)aaC>aaT		dynein, axonemal, heavy chain 1							31.0	35.0	33.0					3																	52425296		2159	4252	6411	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52425296C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9843C>T	3.37:g.52425296C>T							p.N3281N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	62	10104	+			3346			AAA 5 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.9843C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789874	0.02884	.	.	ENSG00000114841	ENST00000480649	.	.	.	4.46	-7.97	0.01139	.	.	.	.	.	T	0.61223	0.2330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	.	14.9602	0.71151	0.0:0.5399:0.0:0.4601	.	.	.	.	C	93	.	.	R	+	1	0	DNAH1	52400336	0.004000	0.15560	0.845000	0.33349	0.137000	0.21094	-1.529000	0.02223	-1.758000	0.01315	-0.768000	0.03414	CGT		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		21	78	0	0	0	1	0	21	78				
ZNF300P1	134466	broad.mit.edu	37	5	150321825	150321825	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150321825C>T	ENST00000520773.1	-	0	1423									zinc finger protein 300 pseudogene 1 (functional)																		ATCCATGGCTCTTCTCCTTGT	0.373																																						ENST00000520773.1																			0																																																			0							g.chr5:150321825C>T	AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150321825C>T														0	1423	-									RNA	SNP	ENST00000520773.1	37																																																																																						0.373	ZNF300P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374771.1	NR_026867		9	82	0	0	0	1	0	9	82				
SLC9A3R1	9368	broad.mit.edu	37	17	72763082	72763082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72763082G>A	ENST00000262613.5	+	4	960	c.765G>A	c.(763-765)ctG>ctA	p.L255L	SLC9A3R1_ENST00000413388.2_Silent_p.L99L	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	255					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TAGGTCCCCTGCCTGTGCCCT	0.537																																						ENST00000262613.5																			0				large_intestine(4)	4						c.(763-765)ctG>ctA		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1							167.0	135.0	146.0					17																	72763082		2203	4300	6503	SO:0001819	synonymous_variant	9368				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association	g.chr17:72763082G>A	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.765G>A	17.37:g.72763082G>A						SLC9A3R1_ENST00000413388.2_Silent_p.L99L	p.L255L	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN			4	960	+			255					B3KY21|O43552|Q86WQ5	Silent	SNP	ENST00000262613.5	37	c.765G>A	CCDS11705.1																																																																																				0.537	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			103	347	0	0	0	1	0	103	347				
TRIP11	9321	broad.mit.edu	37	14	92465608	92465608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92465608G>A	ENST00000267622.4	-	13	5241	c.4868C>T	c.(4867-4869)tCc>tTc	p.S1623F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1623					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGCATTAGAGGATGAAACTAG	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4867-4869)tCc>tTc		thyroid hormone receptor interactor 11							105.0	96.0	99.0					14																	92465608		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92465608G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4868C>T	14.37:g.92465608G>A	ENSP00000267622:p.Ser1623Phe						p.S1623F	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	13	5241	-			1623					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4868C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318692	0.81469	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.06528	3.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02450	-1.1157	10	0.87932	D	0	.	19.1395	0.93443	0.0:0.0:1.0:0.0	.	1359;1623	F5H1Z0;Q15643	.;TRIPB_HUMAN	F	1623;1359	ENSP00000267622:S1623F	ENSP00000267622:S1623F	S	-	2	0	TRIP11	91535361	1.000000	0.71417	0.990000	0.47175	0.886000	0.51366	8.971000	0.93419	2.538000	0.85594	0.655000	0.94253	TCC		0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			41	213	0	0	0	1	0	41	213				
CACNA1A	773	broad.mit.edu	37	19	13356068	13356068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13356068G>A	ENST00000360228.5	-	31	4877	c.4878C>T	c.(4876-4878)cgC>cgT	p.R1626R	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.R1627R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1627					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAGGCATCGCGGAAATAAT	0.552																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4876-4878)cgC>cgT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						80.0	79.0	80.0					19																	13356068		1946	4136	6082	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13356068G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4878C>T	19.37:g.13356068G>A						CACNA1A_ENST00000573710.2_Silent_p.R1627R|CACNA1A_ENST00000574822.1_5'UTR	p.R1626R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		31	4877	-			1627					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.4878C>T	CCDS45998.1																																																																																				0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		39	235	0	0	0	1	0	39	235				
RBP3	5949	broad.mit.edu	37	10	48390460	48390460	+	Missense_Mutation	SNP	C	C	T	rs34932849	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48390460C>T	ENST00000224600.4	-	1	531	c.418G>A	c.(418-420)Ggc>Agc	p.G140S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	140	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCCTGGCCCGGGACGCTG	0.637													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.0					ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(418-420)Ggc>Agc		retinol binding protein 3, interstitial	Vitamin A(DB00162)	C	SER/GLY	16,4390	23.3+/-48.9	0,16,2187	68.0	75.0	73.0		418	1.6	0.0	10	dbSNP_126	73	0,8600		0,0,4300	yes	missense	RBP3	NM_002900.2	56	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	possibly-damaging	140/1248	48390460	16,12990	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390460C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.418G>A	10.37:g.48390460C>T	ENSP00000224600:p.Gly140Ser						p.G140S	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	531	-			140			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.418G>A	CCDS7218.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.52	2.262480	0.39995	0.003631	0.0	ENSG00000107618	ENST00000224600	T	0.63096	-0.02	5.7	1.6	0.23607	Interphotoreceptor retinol-binding (2);	0.295374	0.42294	N	0.000726	T	0.68805	0.3041	L	0.46157	1.445	0.37162	D	0.902659	D	0.71674	0.998	D	0.76575	0.988	T	0.69518	-0.5124	10	0.56958	D	0.05	-14.0283	9.285	0.37751	0.0:0.6973:0.0:0.3027	rs34932849	140	P10745	RET3_HUMAN	S	140	ENSP00000224600:G140S	ENSP00000224600:G140S	G	-	1	0	RBP3	48010466	0.213000	0.23551	0.010000	0.14722	0.012000	0.07955	1.170000	0.31883	0.030000	0.15379	0.650000	0.86243	GGC		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		22	589	0	0	0	1	0	22	589				
TBX15	6913	broad.mit.edu	37	1	119474288	119474288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119474288G>A	ENST00000369429.3	-	2	382	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TBX15_ENST00000207157.3_Missense_Mutation_p.R19W			Q96SF7	TBX15_HUMAN	T-box 15	125					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCATGGAACCGCTTCCAGAGG	0.507																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(373-375)Cgg>Tgg		T-box 15							98.0	87.0	91.0					1																	119474288		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119474288G>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.373C>T	1.37:g.119474288G>A	ENSP00000358437:p.Arg125Trp					TBX15_ENST00000207157.3_Missense_Mutation_p.R19W	p.R125W			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	2	382	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	125					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.373C>T		.	.	.	.	.	.	.	.	.	.	G	17.98	3.521076	0.64747	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.88586	-2.4;-2.4	5.97	2.19	0.27852	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.049918	0.85682	D	0.000000	D	0.93706	0.7989	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94414	0.7634	10	0.87932	D	0	.	13.4602	0.61223	0.0:0.0:0.3887:0.6113	.	125	Q96SF7	TBX15_HUMAN	W	19;125	ENSP00000207157:R19W;ENSP00000358437:R125W	ENSP00000207157:R19W	R	-	1	2	TBX15	119275811	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.349000	0.33998	0.492000	0.27815	-0.485000	0.04761	CGG		0.507	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		23	161	0	0	0	1	0	23	161				
GINS2	51659	broad.mit.edu	37	16	85712255	85712255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85712255G>A	ENST00000253462.3	-	4	423	c.323C>T	c.(322-324)cCg>cTg	p.P108L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	108					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						GTCTGCCTTCGGGATGTTGTC	0.512																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(322-324)cCg>cTg		GINS complex subunit 2 (Psf2 homolog)							126.0	112.0	116.0					16																	85712255		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85712255G>A	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.323C>T	16.37:g.85712255G>A	ENSP00000253462:p.Pro108Leu						p.P108L	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			4	423	-			108					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.323C>T	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337646	0.81911	.	.	ENSG00000131153	ENST00000253462	.	.	.	5.53	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.79921	-0.1599	9	0.42905	T	0.14	-34.2138	13.9823	0.64313	0.0732:0.0:0.9268:0.0	.	108	Q9Y248	PSF2_HUMAN	L	108	.	ENSP00000253462:P108L	P	-	2	0	GINS2	84269756	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	9.257000	0.95545	1.349000	0.45751	-0.259000	0.10710	CCG		0.512	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		92	478	0	0	0	1	0	92	478				
BARD1	580	broad.mit.edu	37	2	215646005	215646005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215646005G>A	ENST00000260947.4	-	4	727	c.593C>T	c.(592-594)gCt>gTt	p.A198V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.A54V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	198					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTGCAGAAGCCTTTTTAGC	0.388									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(592-594)gCt>gTt		BRCA1 associated RING domain 1							68.0	71.0	70.0					2																	215646005		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215646005G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.593C>T	2.37:g.215646005G>A	ENSP00000260947:p.Ala198Val					BARD1_ENST00000449967.2_Missense_Mutation_p.A54V|BARD1_ENST00000471787.1_5'UTR	p.A198V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	727	-		Renal(323;0.0243)	198					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.593C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081057	0.08533	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72725	-0.68;-0.1	5.75	1.71	0.24356	.	0.813362	0.11148	N	0.594411	T	0.57051	0.2027	L	0.50333	1.59	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.13407	0.009;0.003	T	0.39210	-0.9625	10	0.12766	T	0.61	-3.1363	4.3336	0.11075	0.1329:0.2206:0.5298:0.1167	.	54;198	E7EUI3;Q99728	.;BARD1_HUMAN	V	198;54	ENSP00000260947:A198V;ENSP00000406752:A54V	ENSP00000260947:A198V	A	-	2	0	BARD1	215354250	0.289000	0.24334	0.020000	0.16555	0.033000	0.12548	1.470000	0.35354	0.878000	0.35920	0.650000	0.86243	GCT		0.388	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		60	359	0	0	0	1	0	60	359				
HKDC1	80201	broad.mit.edu	37	10	71008237	71008237	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71008237C>T	ENST00000354624.5	+	10	1456	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	HKDC1_ENST00000395086.2_Silent_p.R441R|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	441	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTGATGTCCGCTTCCTCCTGT	0.597																																						ENST00000354624.5																			1	Deletion - Frameshift(1)	p.V440fs*51(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1321-1323)cgC>cgT		hexokinase domain containing 1							54.0	54.0	54.0					10																	71008237		2203	4300	6503	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008237C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1323C>T	10.37:g.71008237C>T						HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Silent_p.R441R	p.R441R	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			10	1456	+			441					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.1323C>T	CCDS7288.1																																																																																				0.597	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		8	460	0	0	0	1	0	8	460				
DPF3	8110	broad.mit.edu	37	14	73159903	73159903	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73159903T>G	ENST00000556509.1	-	7	622	c.623A>C	c.(622-624)aAg>aCg	p.K208T	DPF3_ENST00000546183.1_Missense_Mutation_p.K218T|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Missense_Mutation_p.K208T	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	208					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGTCGGTTCTTGTAGCGCTT	0.547																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(622-624)aAg>aCg		D4, zinc and double PHD fingers, family 3							89.0	92.0	91.0					14																	73159903		2002	4188	6190	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73159903T>G	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.623A>C	14.37:g.73159903T>G	ENSP00000450518:p.Lys208Thr					DPF3_ENST00000546183.1_Missense_Mutation_p.K218T|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.K208T	p.K208T	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	7	635	-			208					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.623A>C		.	.	.	.	.	.	.	.	.	.	T	22.7	4.326574	0.81690	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.92858	-3.12;-0.53;-0.61	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95893	0.8663	M	0.82323	2.585	0.80722	D	1	P;P;D	0.57899	0.569;0.532;0.981	P;B;D	0.65140	0.455;0.19;0.932	D	0.96480	0.9355	9	0.87932	D	0	.	15.5857	0.76479	0.0:0.0:0.0:1.0	.	218;208;208	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	208;207;208;218	ENSP00000450518:K208T;ENSP00000441640:K208T;ENSP00000444662:K218T	ENSP00000381791:K263T	K	-	2	0	DPF3	72229656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.658000	0.83755	2.081000	0.62600	0.459000	0.35465	AAG		0.547	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			49	280	0	0	0	1	0	49	280				
CEP44	80817	broad.mit.edu	37	4	175231080	175231080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175231080C>T	ENST00000503780.1	+	8	1172	c.758C>T	c.(757-759)tCg>tTg	p.S253L	CEP44_ENST00000426172.1_Missense_Mutation_p.S253L|CEP44_ENST00000296519.4_Missense_Mutation_p.S253L|CEP44_ENST00000457424.2_Missense_Mutation_p.S253L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	253						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)		p.S253L(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AAACTGACTTCGATAGAGAAA	0.348																																						ENST00000503780.1																			1	Substitution - Missense(1)	p.S253L(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(757-759)tCg>tTg		centrosomal protein 44kDa							67.0	73.0	71.0					4																	175231080		2203	4300	6503	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175231080C>T	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.758C>T	4.37:g.175231080C>T	ENSP00000423153:p.Ser253Leu					CEP44_ENST00000457424.2_Missense_Mutation_p.S253L|CEP44_ENST00000426172.1_Missense_Mutation_p.S253L|CEP44_ENST00000296519.4_Missense_Mutation_p.S253L	p.S253L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			8	1172	+			253					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.758C>T	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.979512	0.00448	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000426172;ENST00000296519	T;T;T;T	0.39406	1.11;1.08;1.08;1.11	5.71	-5.99	0.02213	.	1.760470	0.02397	N	0.080302	T	0.09468	0.0233	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31166	-0.9953	10	0.02654	T	1	.	3.1926	0.06623	0.1208:0.1606:0.3153:0.4033	.	253;253	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	L	253	ENSP00000423153:S253L;ENSP00000389427:S253L;ENSP00000408221:S253L;ENSP00000296519:S253L	ENSP00000296519:S253L	S	+	2	0	CEP44	175467655	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	-0.168000	0.09925	-0.988000	0.03489	-1.900000	0.00529	TCG		0.348	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		26	140	0	0	0	1	0	26	140				
OLFM2	93145	broad.mit.edu	37	19	9968460	9968460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9968460C>A	ENST00000264833.4	-	3	476	c.291G>T	c.(289-291)gaG>gaT	p.E97D	OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	97					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCATGAGGGTCTCCATGCCGC	0.617																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(289-291)gaG>gaT		olfactomedin 2							62.0	58.0	59.0					19																	9968460		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9968460C>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.291G>T	19.37:g.9968460C>A	ENSP00000264833:p.Glu97Asp					OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	p.E97D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			3	476	-			97					Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.291G>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158524	0.78114	.	.	ENSG00000105088	ENST00000264833	T	0.59224	0.28	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.73217	2.22	0.46149	D	0.998896	D	0.76494	0.999	D	0.77557	0.99	T	0.70193	-0.4939	9	.	.	.	.	7.3153	0.26498	0.0:0.8816:0.0:0.1184	.	97	O95897	NOE2_HUMAN	D	97	ENSP00000264833:E97D	.	E	-	3	2	OLFM2	9829460	0.747000	0.28283	1.000000	0.80357	0.936000	0.57629	1.459000	0.35234	2.021000	0.59480	0.306000	0.20318	GAG		0.617	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			63	273	1	0	3.37043e-27	1	3.8985e-27	63	273				
TRAP1	10131	broad.mit.edu	37	16	3713514	3713514	+	Missense_Mutation	SNP	C	C	T	rs141361125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3713514C>T	ENST00000246957.5	-	14	1707	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	TRAP1_ENST00000573872.1_5'Flank|TRAP1_ENST00000538171.1_Missense_Mutation_p.R487H|DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R331H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	540					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GTCAAACTCACGAAGGTGCAG	0.567																																						ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(991-993)cGt>cAt		TNF receptor-associated protein 1							125.0	116.0	119.0					16																	3713514		2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3713514C>T	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1619G>A	16.37:g.3713514C>T	ENSP00000246957:p.Arg540His					TRAP1_ENST00000246957.5_Missense_Mutation_p.R540H|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.R487H|DNASE1_ENST00000575152.1_3'UTR	p.R331H			Q12931	TRAP1_HUMAN			9	1721	-		Ovarian(90;0.0261)	540					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.992G>A	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236201	0.58886	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.83	4.88	0.63580	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	L	0.52266	1.64	0.58432	D	0.999999	B;B	0.16396	0.013;0.017	B;B	0.16289	0.008;0.015	T	0.07770	-1.0755	10	0.12430	T	0.62	-9.1608	14.3252	0.66515	0.0:0.9286:0.0:0.0714	.	487;540	F5H897;Q12931	.;TRAP1_HUMAN	H	540;487	ENSP00000246957:R540H;ENSP00000442070:R487H	ENSP00000246957:R540H	R	-	2	0	TRAP1	3653515	0.724000	0.28038	0.195000	0.23364	0.957000	0.61999	3.333000	0.52090	1.474000	0.48178	0.557000	0.71058	CGT		0.567	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		51	490	0	0	0	1	0	51	490				
TMC2	117532	broad.mit.edu	37	20	2604978	2604978	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2604978C>A	ENST00000358864.1	+	17	2257	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	748					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCAACCTTCCTGGGCAAGAT	0.498																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2242-2244)Ctg>Atg		transmembrane channel-like 2							188.0	139.0	156.0					20																	2604978		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2604978C>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2242C>A	20.37:g.2604978C>A	ENSP00000351732:p.Leu748Met						p.L748M	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			17	2257	+			748					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2242C>A	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859717	0.17178	.	.	ENSG00000149488	ENST00000358864	T	0.68025	-0.3	4.89	2.83	0.33086	.	0.337351	0.29987	N	0.010687	T	0.52125	0.1715	L	0.39147	1.195	0.26840	N	0.968397	B	0.19200	0.034	B	0.19946	0.027	T	0.35724	-0.9777	10	0.33940	T	0.23	-10.3691	7.3929	0.26919	0.1661:0.5411:0.2928:0.0	.	748	Q8TDI7	TMC2_HUMAN	M	748	ENSP00000351732:L748M	ENSP00000351732:L748M	L	+	1	2	TMC2	2552978	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	0.378000	0.20569	2.429000	0.82318	0.557000	0.71058	CTG		0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			103	371	1	0	3.46703e-50	1	4.29469e-50	103	371				
VWA7	80737	broad.mit.edu	37	6	31734988	31734988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31734988G>A	ENST00000375688.4	-	13	2029	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	VWA7_ENST00000375686.3_Missense_Mutation_p.P610L|VWA7_ENST00000447450.1_Missense_Mutation_p.P610L|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	610						extracellular region (GO:0005576)											ATCCTCCATGGGGATCCCAAA	0.562																																						ENST00000375686.3																			0											c.(1828-1830)cCc>cTc		von Willebrand factor A domain containing 7							30.0	28.0	29.0					6																	31734988		2203	4299	6502	SO:0001583	missense	80737					extracellular region		g.chr6:31734988G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1829C>T	6.37:g.31734988G>A	ENSP00000364840:p.Pro610Leu					VWA7_ENST00000447450.1_Missense_Mutation_p.P610L|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.P610L	p.P610L	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			13	2066	-			610					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1829C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787692	0.49997	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.30981	2.72;2.5;1.51	5.74	5.74	0.90152	.	0.133595	0.50627	D	0.000118	T	0.14141	0.0342	L	0.34521	1.04	0.09310	N	0.999998	B	0.25609	0.13	B	0.27715	0.082	T	0.05784	-1.0864	10	0.51188	T	0.08	-11.2464	15.4883	0.75584	0.0:0.0:1.0:0.0	.	610	Q9Y334	G7C_HUMAN	L	610	ENSP00000364840:P610L;ENSP00000364838:P610L;ENSP00000390554:P610L	ENSP00000364838:P610L	P	-	2	0	C6orf27	31842967	0.609000	0.26975	0.046000	0.18839	0.915000	0.54546	4.425000	0.59875	2.722000	0.93159	0.555000	0.69702	CCC		0.562	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		16	63	0	0	0	1	0	16	63				
SLC9C2	284525	broad.mit.edu	37	1	173486780	173486780	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173486780C>A	ENST00000367714.3	-	23	3225	c.2803G>T	c.(2803-2805)Gac>Tac	p.D935Y	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	935					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GTAAACATGTCTCTGGACCCT	0.393																																						ENST00000367714.3																			0											c.(2803-2805)Gac>Tac		solute carrier family 9, member C2 (putative)							141.0	146.0	144.0					1																	173486780		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173486780C>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2803G>T	1.37:g.173486780C>A	ENSP00000356687:p.Asp935Tyr					SLC9C2_ENST00000466087.1_5'UTR	p.D935Y	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			23	3225	-			935					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2803G>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	6.613	0.481434	0.12581	.	.	ENSG00000162753	ENST00000367714	T	0.42900	0.96	5.01	-0.188	0.13264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.904798	0.09292	N	0.822125	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.22146	0.065	B	0.23716	0.048	T	0.37731	-0.9693	10	0.13470	T	0.59	-0.845	1.3934	0.02255	0.1504:0.1369:0.1556:0.5571	.	935	Q5TAH2	S9A11_HUMAN	Y	935	ENSP00000356687:D935Y	ENSP00000356687:D935Y	D	-	1	0	SLC9A11	171753403	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.171000	0.09883	-0.225000	0.09913	-0.882000	0.02950	GAC		0.393	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		54	551	1	0	3.40343e-31	1	4.00304e-31	54	551				
ADCY3	109	broad.mit.edu	37	2	25042959	25042959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042959G>T	ENST00000260600.5	-	21	4128	c.3277C>A	c.(3277-3279)Ctc>Atc	p.L1093I	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1093					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACTCTCGGAGGATGACTTGG	0.612																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3277-3279)Ctc>Atc		adenylate cyclase 3							51.0	46.0	48.0					2																	25042959		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25042959G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3277C>A	2.37:g.25042959G>T	ENSP00000260600:p.Leu1093Ile					CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I|CENPO_ENST00000473706.1_3'UTR	p.L1093I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			21	4128	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1093					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.3277C>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935156	0.92458	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	D;D	0.86097	-2.07;-2.07	5.68	5.68	0.88126	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	L	0.59436	1.845	0.52501	D	0.999958	D;D;P	0.76494	0.984;0.999;0.546	D;D;P	0.97110	0.981;1.0;0.803	D	0.90900	0.4768	10	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	1094;1093;680	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	1093;680;1068	ENSP00000260600:L1093I;ENSP00000384484:L680I	ENSP00000260600:L1093I	L	-	1	0	ADCY3	24896463	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.526000	0.81920	2.838000	0.97847	0.655000	0.94253	CTC		0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			52	185	1	0	8.72158e-25	1	9.98758e-25	52	185				
RFX6	222546	broad.mit.edu	37	6	117241504	117241504	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117241504T>C	ENST00000332958.2	+	12	1230	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	405					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCATGTCGTTAATTCT	0.393																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1213-1215)gTc>gCc		regulatory factor X, 6							207.0	188.0	195.0					6																	117241504		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117241504T>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1214T>C	6.37:g.117241504T>C	ENSP00000332208:p.Val405Ala						p.V405A	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			12	1230	+			405					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1214T>C	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399836	0.62177	.	.	ENSG00000185002	ENST00000332958	T	0.55930	0.49	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.56769	1.78	0.58432	D	0.99999	P	0.39665	0.682	B	0.36134	0.218	T	0.46555	-0.9183	10	0.54805	T	0.06	-16.6606	15.8276	0.78727	0.0:0.0:0.0:1.0	.	405	Q8HWS3	RFX6_HUMAN	A	405	ENSP00000332208:V405A	ENSP00000332208:V405A	V	+	2	0	RFX6	117348197	1.000000	0.71417	0.916000	0.36221	0.782000	0.44232	7.649000	0.83500	2.122000	0.65172	0.533000	0.62120	GTC		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		140	622	0	0	0	1	0	140	622				
CD163	9332	broad.mit.edu	37	12	7639264	7639264	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7639264T>A	ENST00000359156.4	-	10	2491	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	CD163_ENST00000541972.1_Silent_p.G751G|CD163_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Silent_p.G763G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	763	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAATGGCCTCTCCACAGCCCA	0.537																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2287-2289)ggA>ggT		CD163 molecule							159.0	158.0	158.0					12																	7639264		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639264T>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2289A>T	12.37:g.7639264T>A						CD163_ENST00000432237.2_Silent_p.G763G|CD163_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000541972.1_Silent_p.G751G	p.G763G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			10	2491	-			763			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.2289A>T	CCDS8578.1																																																																																				0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		130	836	0	0	0	1	0	130	836				
ZNF835	90485	broad.mit.edu	37	19	57175556	57175556	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175556G>A	ENST00000537055.2	-	2	1242	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCGCACTGGCCGCACGCGT	0.697																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1009-1011)ggC>ggT		zinc finger protein 835							20.0	19.0	20.0					19																	57175556		2202	4295	6497	SO:0001819	synonymous_variant	90485							g.chr19:57175556G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1011C>T	19.37:g.57175556G>A							p.G337G	NM_001005850.2	NP_001005850.2					2	1242	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1011C>T	CCDS56105.1																																																																																				0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		26	107	0	0	0	1	0	26	107				
TAP1	6890	broad.mit.edu	37	6	32818155	32818155	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32818155A>C	ENST00000354258.4	-	5	1531	c.1370T>G	c.(1369-1371)aTa>aGa	p.I457R	TAP1_ENST00000425148.2_Missense_Mutation_p.I196R|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	457	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GAGTGTCTTTATTTCTTGCAG	0.517																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1369-1371)aTa>aGa		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							151.0	144.0	147.0					6																	32818155		2203	4300	6503	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32818155A>C		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1370T>G	6.37:g.32818155A>C	ENSP00000346206:p.Ile457Arg					TAP1_ENST00000425148.2_Missense_Mutation_p.I196R|PSMB9_ENST00000395330.1_Intron	p.I457R	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			5	1531	-			457			ABC transmembrane type-1.|Involved in peptide-binding site.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1370T>G	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316890	0.60524	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	T;T	0.80566	-1.39;-1.39	5.72	4.59	0.56863	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.005140	0.08010	N	0.990277	T	0.61324	0.2338	N	0.19112	0.55	0.48511	D	0.999665	P	0.38745	0.645	P	0.44422	0.449	T	0.63959	-0.6519	10	0.66056	D	0.02	-10.3736	4.4281	0.11513	0.7684:0.0:0.2316:0.0	.	457	Q03518	TAP1_HUMAN	R	457;196	ENSP00000346206:I457R;ENSP00000401919:I196R	ENSP00000346206:I457R	I	-	2	0	TAP1	32926133	0.993000	0.37304	0.366000	0.25914	0.793000	0.44817	2.439000	0.44846	2.185000	0.69588	0.523000	0.50628	ATA		0.517	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		77	321	0	0	0	1	0	77	321				
ATP12A	479	broad.mit.edu	37	13	25264557	25264557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264557G>T	ENST00000381946.3	+	6	795	c.628G>T	c.(628-630)Gga>Tga	p.G210*	ATP12A_ENST00000218548.6_Nonsense_Mutation_p.G210*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	210					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGAGGTCAAAGGAGGAGACCA	0.552																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(628-630)Gga>Tga		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						97.0	90.0	92.0					13																	25264557		2203	4300	6503	SO:0001587	stop_gained	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264557G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.628G>T	13.37:g.25264557G>T	ENSP00000371372:p.Gly210*					ATP12A_ENST00000381946.3_Nonsense_Mutation_p.G210*	p.G210*	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	961	+		Lung SC(185;0.0225)|Breast(139;0.077)	210					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Nonsense_Mutation	SNP	ENST00000381946.3	37	c.628G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	38	6.705727	0.97776	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	4.75	3.91	0.45181	.	0.081868	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.8938	0.47010	0.0912:0.0:0.9088:0.0	.	.	.	.	X	210	.	ENSP00000218548:G210X	G	+	1	0	ATP12A	24162557	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	7.595000	0.82710	1.216000	0.43427	-0.150000	0.13652	GGA		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		79	433	1	0	8.27458e-37	1	9.91862e-37	79	433				
MCMDC2	157777	broad.mit.edu	37	8	67803173	67803173	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67803173C>A	ENST00000422365.2	+	10	1318	c.1147C>A	c.(1147-1149)Cta>Ata	p.L383I	MCMDC2_ENST00000541540.1_Missense_Mutation_p.L320I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L383I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L383I	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	383					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TTTTCCCACTCTATCCAGGAA	0.408																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1147-1149)Cta>Ata		minichromosome maintenance domain containing 2							107.0	108.0	108.0					8																	67803173		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67803173C>A	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1147C>A	8.37:g.67803173C>A	ENSP00000413632:p.Leu383Ile					MCMDC2_ENST00000313616.5_Missense_Mutation_p.L383I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L383I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L320I	p.L383I	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			10	1318	+			383					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1147C>A	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198031	0.22037	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.84	-7.66	0.01277	.	0.375035	0.24899	N	0.034716	T	0.16981	0.0408	L	0.34521	1.04	0.21499	N	0.999668	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.10450	0.005;0.002;0.002	T	0.04400	-1.0954	10	0.39692	T	0.17	1.162	3.8609	0.08996	0.1532:0.1386:0.461:0.2472	.	320;383;383	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	I	255;383;383;383;320	ENSP00000379837:L383I;ENSP00000413632:L383I;ENSP00000317234:L383I;ENSP00000445629:L320I	ENSP00000317234:L383I	L	+	1	2	C8orf45	67965727	0.994000	0.37717	0.087000	0.20705	0.724000	0.41520	0.293000	0.19029	-1.208000	0.02634	-1.265000	0.01443	CTA		0.408	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		88	461	1	0	1.13884e-41	1	1.38436e-41	88	461				
EPS8L2	64787	broad.mit.edu	37	11	721660	721660	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:721660G>A	ENST00000533256.1	+	11	1239	c.864G>A	c.(862-864)aaG>aaA	p.K288K	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.K288K|EPS8L2_ENST00000526198.1_Silent_p.K304K|EPS8L2_ENST00000318562.8_Silent_p.K288K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	288					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCGGAAAAAGGGGAAGAAGA	0.657																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(862-864)aaG>aaA		EPS8-like 2							35.0	45.0	42.0					11																	721660		2196	4289	6485	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:721660G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.864G>A	11.37:g.721660G>A						EPS8L2_ENST00000530636.1_Silent_p.K288K|EPS8L2_ENST00000318562.8_Silent_p.K288K|EPS8L2_ENST00000526198.1_Silent_p.K304K|AP006621.9_ENST00000527021.2_RNA	p.K288K			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1239	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	288					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.864G>A	CCDS31328.1																																																																																				0.657	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		42	219	0	0	0	1	0	42	219				
TMEM187	8269	broad.mit.edu	37	X	153248033	153248033	+	Missense_Mutation	SNP	G	G	A	rs368361749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153248033G>A	ENST00000369982.4	+	2	1267	c.520G>A	c.(520-522)Gct>Act	p.A174T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	174						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGTGGCCGCTGTGGGGCA	0.637																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(520-522)Gct>Act		transmembrane protein 187		G	THR/ALA	0,3835		0,0,0,1632,571	49.0	38.0	42.0		520	0.9	0.0	X		42	2,6726		0,1,1,2427,1871	no	missense	TMEM187	NM_003492.2	58	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	possibly-damaging	174/262	153248033	2,10561	2203	4300	6503	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153248033G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.520G>A	X.37:g.153248033G>A	ENSP00000358999:p.Ala174Thr						p.A174T	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1267	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		174					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.520G>A	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215736	0.39102	0.0	2.97E-4	ENSG00000177854	ENST00000369982	T	0.29917	1.55	4.65	0.902	0.19290	.	0.311733	0.18440	N	0.141173	T	0.20740	0.0499	L	0.50919	1.6	0.09310	N	1	P	0.39964	0.697	B	0.27170	0.077	T	0.06899	-1.0801	10	0.59425	D	0.04	.	8.624	0.33877	0.3436:0.0:0.6564:0.0	.	174	Q14656	TM187_HUMAN	T	174	ENSP00000358999:A174T	ENSP00000358999:A174T	A	+	1	0	TMEM187	152901227	0.519000	0.26242	0.000000	0.03702	0.017000	0.09413	3.037000	0.49775	-0.247000	0.09597	-0.422000	0.05995	GCT		0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		39	137	0	0	0	1	0	39	137				
IFIT1	3434	broad.mit.edu	37	10	91162578	91162578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162578G>A	ENST00000371804.3	+	2	713	c.546G>A	c.(544-546)gcG>gcA	p.A182A	IFIT1_ENST00000546318.1_Silent_p.A151A|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGTATGCGATCTCTGCCT	0.478																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(451-453)gcG>gcA		interferon-induced protein with tetratricopeptide repeats 1							131.0	134.0	133.0					10																	91162578		2203	4300	6503	SO:0001819	synonymous_variant	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162578G>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.546G>A	10.37:g.91162578G>A						IFIT1_ENST00000371804.3_Silent_p.A182A|LIPA_ENST00000371837.1_Intron	p.A151A	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1740	+			182					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.453G>A	CCDS31243.1																																																																																				0.478	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		202	878	0	0	0	1	0	202	878				
MTL5	9633	broad.mit.edu	37	11	68518082	68518082	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68518082G>A	ENST00000255087.5	-	2	230	c.47C>T	c.(46-48)gCg>gTg	p.A16V	MTL5_ENST00000443940.2_Missense_Mutation_p.A16V|MTL5_ENST00000544963.1_Missense_Mutation_p.A16V|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	16					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CGTCACCATCGCATCCTCGGG	0.711																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(46-48)gCg>gTg		metallothionein-like 5, testis-specific (tesmin)							13.0	12.0	12.0					11																	68518082		2194	4285	6479	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68518082G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.47C>T	11.37:g.68518082G>A	ENSP00000255087:p.Ala16Val					MTL5_ENST00000544963.1_Missense_Mutation_p.A16V|MTL5_ENST00000255087.5_Missense_Mutation_p.A16V	p.A16V			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	133	-	Esophageal squamous(3;4.37e-12)		16					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.47C>T	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.639166	0.29157	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.45668	1.49;0.89;1.48	3.69	1.31	0.21738	.	0.174218	0.27219	N	0.020367	T	0.16300	0.0392	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.12502	-1.0545	10	0.45353	T	0.12	-9.2933	4.1092	0.10052	0.203:0.0:0.2211:0.5759	.	16;16	Q9Y4I5-3;Q9Y4I5	.;MTL5_HUMAN	V	16	ENSP00000255087:A16V;ENSP00000403086:A16V;ENSP00000440968:A16V	ENSP00000255087:A16V	A	-	2	0	MTL5	68274658	0.024000	0.19004	0.037000	0.18230	0.021000	0.10359	0.351000	0.20096	0.080000	0.16959	-0.701000	0.03672	GCG		0.711	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		4	87	0	0	0	1	0	4	87				
USP6	9098	broad.mit.edu	37	17	5042848	5042848	+	Silent	SNP	G	G	A	rs61761605	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042848G>A	ENST00000574788.1	+	22	3607	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	USP6_ENST00000332776.4_Silent_p.T459T|USP6_ENST00000304328.5_Silent_p.T142T|USP6_ENST00000250066.6_Silent_p.T459T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	459					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCTCCCAACGGACCTGGATA	0.622			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								G|||	9	0.00179712	0.0	0.0	5008	,	,		18153	0.0069		0.0	False		,,,				2504	0.002					ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1375-1377)acG>acA		ubiquitin specific peptidase 6 (Tre-2 oncogene)							48.0	56.0	53.0					17																	5042848		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042848G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1377G>A	17.37:g.5042848G>A						USP6_ENST00000332776.4_Silent_p.T459T|USP6_ENST00000304328.5_Silent_p.T142T|USP6_ENST00000250066.6_Silent_p.T459T	p.T459T			P35125	UBP6_HUMAN			22	3607	+			459					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.1377G>A	CCDS11069.2																																																																																				0.622	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		59	319	0	0	0	1	0	59	319				
TTK	7272	broad.mit.edu	37	6	80723075	80723075	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80723075A>C	ENST00000369798.2	+	9	1087	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_ENST00000230510.3_Missense_Mutation_p.N326H|TTK_ENST00000509894.1_Missense_Mutation_p.N326H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	326					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.N310H(1)|p.N326H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAGAAATTTAAAGGT	0.358																																						ENST00000509894.1																			2	Substitution - Missense(2)	p.N310H(1)|p.N326H(1)	lung(2)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(976-978)Aat>Cat		TTK protein kinase							74.0	87.0	82.0					6																	80723075		2202	4294	6496	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80723075A>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.976A>C	6.37:g.80723075A>C	ENSP00000358813:p.Asn326His					TTK_ENST00000369798.2_Missense_Mutation_p.N326H|TTK_ENST00000230510.3_Missense_Mutation_p.N326H	p.N326H			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	9	1805	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	326					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.976A>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880323	0.33162	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.69806	-0.41;-0.41;-0.43	5.63	-2.13	0.07144	.	0.718330	0.15478	N	0.260260	T	0.16342	0.0393	N	0.04508	-0.205	0.22737	N	0.998796	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.004	T	0.25984	-1.0116	10	0.34782	T	0.22	.	5.9981	0.19505	0.3703:0.4243:0.2054:0.0	.	326;326	P33981;A8K8U5	TTK_HUMAN;.	H	326	ENSP00000422936:N326H;ENSP00000230510:N326H;ENSP00000358813:N326H	ENSP00000230510:N326H	N	+	1	0	TTK	80779794	0.310000	0.24527	0.778000	0.31720	0.805000	0.45488	-0.315000	0.08081	-0.229000	0.09854	0.533000	0.62120	AAT		0.358	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			187	683	0	0	0	1	0	187	683				
MTL5	9633	broad.mit.edu	37	11	68517909	68517909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517909C>T	ENST00000255087.5	-	2	403	c.220G>A	c.(220-222)Gac>Aac	p.D74N	MTL5_ENST00000443940.2_Missense_Mutation_p.D74N|MTL5_ENST00000544963.1_Missense_Mutation_p.D74N|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	74					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTGCAGTCGGCGCCCAGC	0.697																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(220-222)Gac>Aac		metallothionein-like 5, testis-specific (tesmin)							13.0	12.0	13.0					11																	68517909		2191	4273	6464	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517909C>T	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.220G>A	11.37:g.68517909C>T	ENSP00000255087:p.Asp74Asn					MTL5_ENST00000544963.1_Missense_Mutation_p.D74N|MTL5_ENST00000255087.5_Missense_Mutation_p.D74N	p.D74N			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	306	-	Esophageal squamous(3;4.37e-12)		74					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.220G>A	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	c	12.87	2.066480	0.36470	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.52983	1.3;0.64;1.23	4.25	4.25	0.50352	.	0.143613	0.31566	N	0.007438	T	0.52224	0.1721	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.70227	0.968;0.968;0.685	T	0.39502	-0.9611	10	0.29301	T	0.29	-22.316	12.0095	0.53278	0.0:1.0:0.0:0.0	.	74;57;74	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	N	74	ENSP00000255087:D74N;ENSP00000403086:D74N;ENSP00000440968:D74N	ENSP00000255087:D74N	D	-	1	0	MTL5	68274485	0.121000	0.22262	0.152000	0.22495	0.053000	0.15095	2.985000	0.49362	2.204000	0.70986	0.306000	0.20318	GAC		0.697	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		11	46	0	0	0	1	0	11	46				
GAA	2548	broad.mit.edu	37	17	78086504	78086504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78086504G>A	ENST00000302262.3	+	13	2101	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	GAA_ENST00000390015.3_Missense_Mutation_p.V628M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	628					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CGCCTCCTCCGTGCCAGGTGA	0.687																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1882-1884)Gtg>Atg		glucosidase, alpha; acid	Acarbose(DB00284)						12.0	13.0	13.0					17																	78086504		2195	4283	6478	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78086504G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1882G>A	17.37:g.78086504G>A	ENSP00000305692:p.Val628Met					GAA_ENST00000390015.3_Missense_Mutation_p.V628M	p.V628M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		13	2101	+	all_neural(118;0.117)		628					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.1882G>A	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733387	0.48939	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91996	-2.95;-2.95	4.97	4.97	0.65823	Glycoside hydrolase, superfamily (1);	0.121779	0.56097	D	0.000037	D	0.94518	0.8235	M	0.66506	2.035	0.33566	D	0.597962	D	0.69078	0.997	D	0.67548	0.952	D	0.96600	0.9444	10	0.87932	D	0	-29.4845	11.3082	0.49347	0.0902:0.0:0.9098:0.0	.	628	P10253	LYAG_HUMAN	M	628	ENSP00000305692:V628M;ENSP00000374665:V628M	ENSP00000305692:V628M	V	+	1	0	GAA	75701099	0.989000	0.36119	0.931000	0.37212	0.043000	0.13939	2.450000	0.44943	2.270000	0.75569	0.561000	0.74099	GTG		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			4	82	0	0	0	1	0	4	82				
MALAT1	378938	broad.mit.edu	37	11	65269611	65269611	+	lincRNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65269611T>C	ENST00000534336.1	+	0	4379					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACTGTATCTGTTTTCCTTCAA	0.413																																						ENST00000534336.1																			0																				58.0	58.0	58.0					11																	65269611		874	1988	2862			0							g.chr11:65269611T>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269611T>C								NR_002819.2						0	4379	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.413	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		6	142	0	0	0	1	0	6	142				
RHBDD1	84236	broad.mit.edu	37	2	227771551	227771551	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227771551A>G	ENST00000341329.3	+	4	851	c.609A>G	c.(607-609)ctA>ctG	p.L203L	RHBDD1_ENST00000409053.1_Silent_p.L37L|RHBDD1_ENST00000392062.2_Silent_p.L203L	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	203					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGTTGGACTAATGTACACTC	0.448																																						ENST00000392062.2																			0				breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(607-609)ctA>ctG		rhomboid domain containing 1							146.0	150.0	149.0					2																	227771551		2203	4300	6503	SO:0001819	synonymous_variant	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227771551A>G	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.609A>G	2.37:g.227771551A>G						RHBDD1_ENST00000341329.3_Silent_p.L203L|RHBDD1_ENST00000409053.1_Silent_p.L37L	p.L203L	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	6	1133	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	203					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Silent	SNP	ENST00000341329.3	37	c.609A>G	CCDS2464.1																																																																																				0.448	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			146	393	0	0	0	1	0	146	393				
RTF1	23168	broad.mit.edu	37	15	41758365	41758365	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41758365T>C	ENST00000389629.4	+	6	816	c.804T>C	c.(802-804)cgT>cgC	p.R268R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	268	Glu-rich.|Lys-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGGAACGGCGTTCCAAGCGGG	0.433																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(802-804)cgT>cgC		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							93.0	85.0	88.0					15																	41758365		2203	4299	6502	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41758365T>C	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.804T>C	15.37:g.41758365T>C							p.R268R	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	6	816	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	268			Glu-rich.|Lys-rich.		Q96BX6	Silent	SNP	ENST00000389629.4	37	c.804T>C	CCDS32200.2																																																																																				0.433	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		3	44	0	0	0	1	0	3	44				
RNF213	57674	broad.mit.edu	37	17	78319448	78319448	+	Missense_Mutation	SNP	G	G	A	rs148213205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78319448G>A	ENST00000582970.1	+	29	7456	c.7313G>A	c.(7312-7314)cGt>cAt	p.R2438H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H|RNF213_ENST00000336301.6_Missense_Mutation_p.R511H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2438					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACCTGCGGCGTGGTGGTACC	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20492	0.0		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(7312-7314)cGt>cAt		ring finger protein 213		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	92.0	88.0	90.0		7460	4.5	0.1	17	dbSNP_134	90	0,8600		0,0,4300	no	missense	RNF213	NM_020914.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2487/5257	78319448	2,13004	2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319448G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7313G>A	17.37:g.78319448G>A	ENSP00000464087:p.Arg2438His					RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H|RNF213_ENST00000336301.6_Missense_Mutation_p.R511H	p.R2438H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7456	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7313G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	7.345	0.621789	0.14193	4.54E-4	0.0	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.42513	0.97	5.42	4.46	0.54185	ATPase, AAA+ type, core (1);	0.199637	0.37053	N	0.002275	T	0.56601	0.1996	M	0.77103	2.36	0.23376	N	0.997806	D	0.64830	0.994	P	0.55260	0.772	T	0.54840	-0.8233	10	0.66056	D	0.02	.	11.4884	0.50367	0.1441:0.0:0.8559:0.0	.	511	Q63HN8	RN213_HUMAN	H	2438;2487;511	ENSP00000338218:R511H	ENSP00000338218:R511H	R	+	2	0	RNF213	75934043	1.000000	0.71417	0.080000	0.20451	0.044000	0.14063	3.977000	0.56874	1.524000	0.49035	0.655000	0.94253	CGT		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	488	0	0	0	1	0	9	488				
GOLGA2P5	55592	broad.mit.edu	37	12	100550600	100550600	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100550600C>A	ENST00000397112.4	-	0	2221				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAAGGCTCACCTCACAAAGAT	0.597																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100550600C>A																													12.37:g.100550600C>A								NR_036632.1						0	2221	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.597	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			8	86	1	0	1.12685e-05	1	1.15515e-05	8	86				
WDR6	11180	broad.mit.edu	37	3	49051698	49051698	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051698G>A	ENST00000608424.1	+	3	2677	c.2638G>A	c.(2638-2640)Gct>Act	p.A880T	WDR6_ENST00000415265.2_Missense_Mutation_p.A328T|WDR6_ENST00000448293.1_Missense_Mutation_p.A829T|WDR6_ENST00000395474.3_Missense_Mutation_p.A910T			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	880					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCCCCTTGTGGCTGCAGCCTG	0.587											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2728-2730)Gct>Act		WD repeat domain 6							57.0	56.0	57.0					3																	49051698		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051698G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2638G>A	3.37:g.49051698G>A	ENSP00000477389:p.Ala880Thr		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000415265.2_Missense_Mutation_p.A328T|WDR6_ENST00000448293.1_Missense_Mutation_p.A829T	p.A910T	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	3	3008	+			880					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2728G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.657365	0.96724	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.74737	2.43;-0.87;-0.87	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050208	0.85682	D	0.000000	D	0.83626	0.5295	L	0.56769	1.78	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.942;0.984;0.995	T	0.79794	-0.1653	10	0.25106	T	0.35	-16.8242	18.5456	0.91045	0.0:0.0:1.0:0.0	.	328;880;829	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	T	910;328;829	ENSP00000378857:A910T;ENSP00000412195:A328T;ENSP00000413432:A829T	ENSP00000378857:A910T	A	+	1	0	WDR6	49026702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.130000	0.64745	2.626000	0.88956	0.555000	0.69702	GCT		0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			12	315	0	0	0	1	0	12	315				
PTGIS	5740	broad.mit.edu	37	20	48164483	48164483	+	Missense_Mutation	SNP	C	C	T	rs144185728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48164483C>T	ENST00000244043.4	-	3	301	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	91					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GAGCCTGGTGCGAGGCTCCCA	0.557																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(271-273)cGc>cAc		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)	C	HIS/ARG	0,4406		0,0,2203	123.0	110.0	114.0		272	3.1	0.6	20	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PTGIS	NM_000961.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	91/501	48164483	2,13004	2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48164483C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.272G>A	20.37:g.48164483C>T	ENSP00000244043:p.Arg91His					PTGIS_ENST00000478971.1_Intron	p.R91H	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	301	-			91					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.272G>A	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	9.361	1.067960	0.20067	0.0	2.33E-4	ENSG00000124212	ENST00000244043	T	0.68624	-0.34	5.01	3.07	0.35406	.	0.452476	0.24220	N	0.040442	T	0.48205	0.1487	N	0.16368	0.405	0.35058	D	0.761245	B	0.14438	0.01	B	0.08055	0.003	T	0.50145	-0.8862	10	0.42905	T	0.14	-15.4298	10.6534	0.45661	0.0:0.8382:0.0:0.1618	.	91	Q16647	PTGIS_HUMAN	H	91	ENSP00000244043:R91H	ENSP00000244043:R91H	R	-	2	0	PTGIS	47597890	0.993000	0.37304	0.603000	0.28903	0.174000	0.22865	1.806000	0.38892	0.502000	0.28037	-0.463000	0.05309	CGC		0.557	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			126	594	0	0	0	1	0	126	594				
REST	5978	broad.mit.edu	37	4	57777141	57777141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777141A>C	ENST00000309042.7	+	2	651	c.337A>C	c.(337-339)Agt>Cgt	p.S113R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	113	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGAACTGAGAAGTTTGGAACT	0.433																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(337-339)Agt>Cgt		RE1-silencing transcription factor							68.0	67.0	68.0					4																	57777141		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777141A>C	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.337A>C	4.37:g.57777141A>C	ENSP00000311816:p.Ser113Arg						p.S113R	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	651	+	Glioma(25;0.08)|all_neural(26;0.181)		113			Interaction with SIN3A.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.337A>C	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822436	0.32237	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10005	2.92	5.78	0.215	0.15253	.	0.437967	0.23277	N	0.049948	T	0.15305	0.0369	L	0.51422	1.61	0.09310	N	1	P;D	0.63046	0.944;0.992	P;P	0.59487	0.499;0.858	T	0.08722	-1.0708	10	0.66056	D	0.02	-1.9595	1.5661	0.02605	0.5494:0.1094:0.1623:0.179	.	113;113	Q13127-2;Q13127	.;REST_HUMAN	R	113	ENSP00000311816:S113R	ENSP00000311816:S113R	S	+	1	0	REST	57471898	0.008000	0.16893	0.004000	0.12327	0.060000	0.15804	0.307000	0.19296	0.452000	0.26830	-0.250000	0.11733	AGT		0.433	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		58	325	0	0	0	1	0	58	325				
ERCC2	2068	broad.mit.edu	37	19	45867704	45867704	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45867704G>T	ENST00000391945.4	-	8	773	c.696C>A	c.(694-696)gtC>gtA	p.V232V	ERCC2_ENST00000391944.3_Silent_p.V154V|ERCC2_ENST00000485403.2_Silent_p.V208V|ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000221481.6_Intron	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	232	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTCGTCGAAGACCACGACGG	0.632			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(694-696)gtC>gtA	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							43.0	37.0	39.0					19																	45867704		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867704G>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.696C>A	19.37:g.45867704G>T						ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000391944.3_Silent_p.V154V|ERCC2_ENST00000485403.2_Silent_p.V208V|ERCC2_ENST00000221481.6_Intron	p.V232V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	773	-		Ovarian(192;0.0728)|all_neural(266;0.112)	232			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.696C>A	CCDS33049.1																																																																																				0.632	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		28	168	1	0	1.77063e-15	1	1.9355e-15	28	168				
KIAA1324L	222223	broad.mit.edu	37	7	86570678	86570678	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86570678C>A	ENST00000450689.2	-	5	927				KIAA1324L_ENST00000416314.1_Intron|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G4V	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ctggtaattgccttcaagcat	0.383																																						ENST00000297222.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(10-12)gGc>gTc		KIAA1324-like							104.0	96.0	99.0					7																	86570678		2203	4299	6502	SO:0001627	intron_variant	222223					integral to membrane		g.chr7:86570678C>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.741+655G>T	7.37:g.86570678C>A						KIAA1324L_ENST00000450689.2_Intron|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000416314.1_Intron	p.G4V			A8MWY0	K132L_HUMAN			1	10	-	Esophageal squamous(14;0.0058)		244					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.11G>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542018	0.65198	.	.	ENSG00000164659	ENST00000297222	T	0.23348	1.91	3.56	0.899	0.19271	.	.	.	.	.	T	0.32912	0.0845	.	.	.	0.23473	N	0.997602	D	0.63046	0.992	P	0.55087	0.768	T	0.15636	-1.0430	8	0.87932	D	0	.	3.5992	0.08018	0.0:0.541:0.2361:0.2229	.	4	A8MWY0-2	.	V	4	ENSP00000297222:G4V	ENSP00000297222:G4V	G	-	2	0	KIAA1324L	86408614	0.000000	0.05858	0.010000	0.14722	0.836000	0.47400	-0.474000	0.06607	0.180000	0.19960	0.650000	0.86243	GGC		0.383	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		37	200	1	0	9.84934e-19	1	1.0948e-18	37	200				
C6orf58	352999	broad.mit.edu	37	6	127898440	127898440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127898440C>A	ENST00000329722.7	+	1	122	c.110C>A	c.(109-111)cCt>cAt	p.P37H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	37						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAGGAGAGTCCTGGTCAGCTC	0.463																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(109-111)cCt>cAt		chromosome 6 open reading frame 58							120.0	126.0	124.0					6																	127898440		2203	4300	6503	SO:0001583	missense	352999					extracellular region		g.chr6:127898440C>A	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.110C>A	6.37:g.127898440C>A	ENSP00000328069:p.Pro37His					C6orf58_ENST00000498112.1_Intron	p.P37H	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	1	122	+			37					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.110C>A	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747510	0.69533	.	.	ENSG00000184530	ENST00000329722	T	0.52983	0.64	5.24	4.37	0.52481	.	0.255048	0.39083	N	0.001480	T	0.61788	0.2375	M	0.83012	2.62	0.37613	D	0.920992	D	0.89917	1.0	D	0.80764	0.994	T	0.70865	-0.4756	10	0.87932	D	0	-17.8447	12.7508	0.57308	0.0:0.9185:0.0:0.0815	.	37	Q6P5S2	CF058_HUMAN	H	37	ENSP00000328069:P37H	ENSP00000328069:P37H	P	+	2	0	C6orf58	127940133	0.503000	0.26115	0.704000	0.30370	0.959000	0.62525	1.480000	0.35464	1.216000	0.43427	0.655000	0.94253	CCT		0.463	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		90	467	1	0	1.38319e-45	1	1.69661e-45	90	467				
NCEH1	57552	broad.mit.edu	37	3	172365723	172365723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365723C>T	ENST00000475381.1	-	2	553	c.320G>A	c.(319-321)cGc>cAc	p.R107H	NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H|NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	107					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AACGACGCTGCGTTTCAGTGG	0.562																																						ENST00000475381.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(319-321)cGc>cAc		neutral cholesterol ester hydrolase 1							76.0	68.0	71.0					3																	172365723		2203	4300	6503	SO:0001583	missense	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172365723C>T	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.320G>A	3.37:g.172365723C>T	ENSP00000418571:p.Arg107His					NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H	p.R107H			Q6PIU2	NCEH1_HUMAN			2	553	-			107					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.320G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.353719|3.353719	0.61293|0.61293	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512	.|T;T;T	.|0.58940	.|0.3;0.3;0.3	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.098474	.|0.64402	.|D	.|0.000003	T|T	0.73946|0.73946	0.3652|0.3652	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.68483	.|0.958;0.819	T|T	0.76170|0.76170	-0.3057|-0.3057	5|10	.|0.87932	.|D	.|0	-21.2305|-21.2305	13.348|13.348	0.60584|0.60584	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|139;107	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	T|H	130|107;139;139	.|ENSP00000418571:R107H;ENSP00000442464:R139H;ENSP00000273512:R139H	.|ENSP00000273512:R139H	A|R	-|-	1|2	0|0	NCEH1|NCEH1	173848417|173848417	1.000000|1.000000	0.71417|0.71417	0.856000|0.856000	0.33681|0.33681	0.020000|0.020000	0.10135|0.10135	4.529000|4.529000	0.60588|0.60588	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.562	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		62	257	0	0	0	1	0	62	257				
PCDHB10	56126	broad.mit.edu	37	5	140574052	140574052	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140574052C>A	ENST00000239446.4	+	1	2111	c.1927C>A	c.(1927-1929)Ctt>Att	p.L643I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGTGGTGCTTGTCAAGGA	0.692																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1927-1929)Ctt>Att									23.0	24.0	23.0					5																	140574052		2049	3906	5955	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574052C>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1927C>A	5.37:g.140574052C>A	ENSP00000239446:p.Leu643Ile						p.L643I	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2111	+			643			Cadherin 6.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1927C>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	9.641	1.139023	0.21205	.	.	ENSG00000120324	ENST00000239446	T	0.59638	0.25	3.03	2.14	0.27477	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52948	0.1766	L	0.50847	1.595	0.09310	N	1	P	0.39480	0.675	P	0.46585	0.521	T	0.51639	-0.8680	9	0.62326	D	0.03	.	1.7846	0.03039	0.1832:0.4151:0.2742:0.1275	.	643	Q9UN67	PCDBA_HUMAN	I	643	ENSP00000239446:L643I	ENSP00000239446:L643I	L	+	1	0	PCDHB10	140554236	0.000000	0.05858	0.997000	0.53966	0.145000	0.21501	-1.908000	0.01587	1.704000	0.51252	0.298000	0.19748	CTT		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		95	165	1	0	8.16033e-55	1	1.01916e-54	95	165				
KIDINS220	57498	broad.mit.edu	37	2	8926341	8926341	+	Missense_Mutation	SNP	G	G	T	rs185330217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926341G>T	ENST00000256707.3	-	16	2115	c.1934C>A	c.(1933-1935)aCt>aAt	p.T645N	KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	645	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTACCCTGAGTATCTTCAGT	0.423																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1933-1935)aCt>aAt		kinase D-interacting substrate, 220kDa							116.0	110.0	112.0					2																	8926341		1860	4103	5963	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8926341G>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1934C>A	2.37:g.8926341G>T	ENSP00000256707:p.Thr645Asn					KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N	p.T645N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			16	2115	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		645			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.1934C>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554050	0.45487	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.96	5.07	0.68467	KAP P-loop (1);	0.483087	0.25283	N	0.031782	T	0.32763	0.0840	L	0.34521	1.04	0.19300	N	0.999978	B;B;B;B	0.18610	0.029;0.025;0.02;0.025	B;B;B;B	0.34779	0.081;0.189;0.095;0.121	T	0.35400	-0.9790	10	0.51188	T	0.08	.	17.024	0.86440	0.0:0.1274:0.8726:0.0	.	646;646;603;645	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	N	392;329;645;645;603;645;646;646	ENSP00000420364:T392N;ENSP00000256707:T645N;ENSP00000411849:T645N;ENSP00000414923:T603N;ENSP00000418974:T645N;ENSP00000419964:T646N;ENSP00000319947:T646N	ENSP00000256707:T645N	T	-	2	0	KIDINS220	8843792	0.989000	0.36119	0.077000	0.20336	0.960000	0.62799	5.320000	0.65841	1.488000	0.48433	0.655000	0.94253	ACT		0.423	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		184	559	1	0	4.99305e-99	1	6.4203e-99	184	559				
COTL1	23406	broad.mit.edu	37	16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37.0	39.0	38.0					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		10	148	0	0	0	1	0	10	148				
ZNF383	163087	broad.mit.edu	37	19	37734149	37734149	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734149C>T	ENST00000589413.1	+	8	1594	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ZNF383_ENST00000352998.3_Silent_p.P337P|ZNF383_ENST00000590503.1_Silent_p.P337P			Q8NA42	ZN383_HUMAN	zinc finger protein 383	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCCTATGAGTGCA	0.418																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1009-1011)ccC>ccT		zinc finger protein 383							82.0	86.0	85.0					19																	37734149		2203	4300	6503	SO:0001819	synonymous_variant	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734149C>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1011C>T	19.37:g.37734149C>T						ZNF383_ENST00000590503.1_Silent_p.P337P|ZNF383_ENST00000352998.3_Silent_p.P337P	p.P337P			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1594	+			337					Q6X2C7	Silent	SNP	ENST00000589413.1	37	c.1011C>T	CCDS12501.1																																																																																				0.418	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		82	381	0	0	0	1	0	82	381				
FKBP1A	2280	broad.mit.edu	37	20	1352850	1352850	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1352850G>T	ENST00000400137.4	-	4	396	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000460490.1_5'Flank|SDCBP2-AS1_ENST00000609470.1_RNA|SDCBP2-AS1_ENST00000609285.1_RNA|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y|FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	78	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				'de novo' protein folding (GO:0006458)|amyloid fibril formation (GO:1990000)|calcium ion transmembrane transport (GO:0070588)|chaperone-mediated protein folding (GO:0061077)|extracellular fibril organization (GO:0043206)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of amyloid precursor protein catabolic process (GO:1902991)|regulation of immune response (GO:0050776)|regulation of protein localization (GO:0032880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|SMAD protein complex assembly (GO:0007183)|T cell activation (GO:0042110)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|terminal cisterna (GO:0014802)|Z disc (GO:0030018)	activin binding (GO:0048185)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|macrolide binding (GO:0005527)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|type I transforming growth factor beta receptor binding (GO:0034713)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ATAATCTGGAGATATAGTCAG	0.488																																						ENST00000400137.4																			0				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(232-234)tCt>tAt		FK506 binding protein 1A, 12kDa	Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)						73.0	63.0	66.0					20																	1352850		2203	4300	6503	SO:0001583	missense	2280				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding	g.chr20:1352850G>T	M92423	CCDS13014.1, CCDS74688.1	20p13	2013-03-20	2002-08-29		ENSG00000088832	ENSG00000088832			3711	protein-coding gene	gene with protein product	"""calstabin 1"""	186945	"""FK506-binding protein 1A (12kD)"""	FKBP1		1930186	Standard	NM_000801		Approved	FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C	uc002wey.3	P62942	OTTHUMG00000031666	ENST00000400137.4:c.233C>A	20.37:g.1352850G>T	ENSP00000383003:p.Ser78Tyr					FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y	p.S78Y	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN			4	396	-			78			PPIase FKBP-type.		D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566	Missense_Mutation	SNP	ENST00000400137.4	37	c.233C>A	CCDS13014.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760296	0.89932	.	.	ENSG00000088832	ENST00000400137;ENST00000381724;ENST00000381719;ENST00000381715;ENST00000439640	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.8	4.8	0.61643	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.64402	D	0.000015	T	0.65913	0.2737	.	.	.	0.58432	D	0.999998	D;D	0.61080	0.976;0.989	D;D	0.67548	0.937;0.952	T	0.70626	-0.4820	9	0.87932	D	0	.	18.4089	0.90545	0.0:0.0:1.0:0.0	.	62;78	Q1JUQ5;P62942	.;FKB1A_HUMAN	Y	78;73;78;73;62	ENSP00000383003:S78Y;ENSP00000371143:S73Y;ENSP00000371138:S78Y;ENSP00000371134:S73Y;ENSP00000409863:S62Y	ENSP00000371134:S73Y	S	-	2	0	FKBP1A	1300850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.493000	0.97960	2.661000	0.90470	0.650000	0.86243	TCT		0.488	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077534.2			55	252	1	0	1.4709e-25	1	1.68871e-25	55	252				
NYNRIN	57523	broad.mit.edu	37	14	24877717	24877717	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877717G>T	ENST00000382554.3	+	3	1159	c.841G>T	c.(841-843)Gca>Tca	p.A281S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	281					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCAGGAGGCAGCAAACCAGCT	0.542																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(841-843)Gca>Tca		NYN domain and retroviral integrase containing							14.0	16.0	15.0					14																	24877717		2112	4232	6344	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877717G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.841G>T	14.37:g.24877717G>T	ENSP00000371994:p.Ala281Ser						p.A281S	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	1159	+			281					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.841G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	2.693	-0.272766	0.05716	.	.	ENSG00000205978	ENST00000382554	T	0.15718	2.4	4.96	0.915	0.19366	.	5.157060	0.00166	N	0.000013	T	0.12305	0.0299	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.21449	-1.0245	10	0.33141	T	0.24	.	3.9295	0.09278	0.276:0.0:0.5574:0.1666	.	281	Q9P2P1	NYNRI_HUMAN	S	281	ENSP00000371994:A281S	ENSP00000371994:A281S	A	+	1	0	NYNRIN	23947557	0.000000	0.05858	0.107000	0.21349	0.066000	0.16364	0.447000	0.21710	0.258000	0.21686	-0.291000	0.09656	GCA		0.542	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			8	137	1	0	2.17888e-05	1	2.22852e-05	8	137				
PGP	283871	broad.mit.edu	37	16	2264203	2264203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264203G>A	ENST00000333503.7	-	1	605	c.576C>T	c.(574-576)ggC>ggT	p.G192G	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	192					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						CGAGCAGGCAGCCGGGCTGCT	0.706																																					GBM(63;906 1080 2092 17773 18795)	ENST00000333503.7																			0				skin(1)	1						c.(574-576)ggC>ggT		phosphoglycolate phosphatase							10.0	12.0	12.0					16																	2264203		2043	4147	6190	SO:0001819	synonymous_variant	283871				carbohydrate metabolic process		phosphoglycolate phosphatase activity	g.chr16:2264203G>A	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.576C>T	16.37:g.2264203G>A							p.G192G	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN			1	605	-			192						Silent	SNP	ENST00000333503.7	37	c.576C>T	CCDS42104.1																																																																																				0.706	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	NM_024118		16	96	0	0	0	1	0	16	96				
SYNPO2L	79933	broad.mit.edu	37	10	75408231	75408231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75408231C>A	ENST00000394810.2	-	4	1328	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	393						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCGCTGCTGTTCAAAGA	0.667																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1177-1179)caG>caT		synaptopodin 2-like							53.0	55.0	54.0					10																	75408231		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75408231C>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1179G>T	10.37:g.75408231C>A	ENSP00000378289:p.Gln393His					SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H|SYNPO2L_ENST00000372872.4_Missense_Mutation_p.Q393H	p.Q393H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	1328	-	Prostate(51;0.0112)		393					A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1179G>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648146	0.47258	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.28069	1.63;2.71;2.71	4.7	4.7	0.59300	.	0.423282	0.23752	N	0.044914	T	0.36358	0.0964	L	0.52573	1.65	0.51012	D	0.999909	B;P	0.40638	0.412;0.725	B;P	0.46940	0.172;0.532	T	0.15464	-1.0436	10	0.66056	D	0.02	-5.8585	11.3228	0.49433	0.0:0.9164:0.0:0.0836	.	393;169	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	169;393;393	ENSP00000361964:Q169H;ENSP00000361963:Q393H;ENSP00000378289:Q393H	ENSP00000361963:Q393H	Q	-	3	2	SYNPO2L	75078237	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.166000	0.31834	2.456000	0.83038	0.491000	0.48974	CAG		0.667	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		98	424	1	0	2.32112e-61	1	2.92237e-61	98	424				
TAS2R16	50833	broad.mit.edu	37	7	122635261	122635261	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635261G>T	ENST00000249284.2	-	1	493	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	143					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGCTGAAGGGATGATTGT	0.388																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(427-429)cCt>cAt		taste receptor, type 2, member 16							140.0	135.0	136.0					7																	122635261		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635261G>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.428C>A	7.37:g.122635261G>T	ENSP00000249284:p.Pro143His						p.P143H	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	493	-			143					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.428C>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486645	0.44249	.	.	ENSG00000128519	ENST00000249284	T	0.00784	5.7	4.56	0.235	0.15431	.	0.351880	0.24909	N	0.034633	T	0.02380	0.0073	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.40040	-0.9584	10	0.59425	D	0.04	.	4.2625	0.10747	0.246:0.0:0.5736:0.1804	.	143	Q9NYV7	T2R16_HUMAN	H	143	ENSP00000249284:P143H	ENSP00000249284:P143H	P	-	2	0	TAS2R16	122422497	0.000000	0.05858	0.001000	0.08648	0.268000	0.26511	-0.035000	0.12205	-0.073000	0.12842	0.655000	0.94253	CCT		0.388	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		58	311	1	0	2.17126e-26	1	2.5019e-26	58	311				
KLC1	3831	broad.mit.edu	37	14	104143826	104143826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104143826C>T	ENST00000348520.6	+	12	1773	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M	KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|KLC1_ENST00000389744.4_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M|KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	485					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCTGCAGAAACGTTAGAAGAA	0.418																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(1453-1455)aCg>aTg		kinesin light chain 1							147.0	141.0	143.0					14																	104143826		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104143826C>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1454C>T	14.37:g.104143826C>T	ENSP00000341154:p.Thr485Met					KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000348520.6_Missense_Mutation_p.T485M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M	p.T485M			Q07866	KLC1_HUMAN			12	1723	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	485					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.1454C>T	CCDS41996.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.694657|4.694657	0.88830|0.88830	.|.	.|.	ENSG00000126214|ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000553325;ENST00000553436;ENST00000555856|ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	.|T;D;T;T;T;T;T;T;T;D;T;T;D;T	.|0.85258	.|-1.37;-1.85;-1.36;-1.36;-1.36;-1.37;-1.37;-1.36;-1.37;-1.96;-1.37;-1.36;-1.95;-0.62	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.090866	.|0.85682	.|D	.|0.000000	D|D	0.92580|0.92580	0.7643|0.7643	M|M	0.77103|0.77103	2.36|2.36	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;0.996;0.999;1.0;0.997	D|D	0.91455|0.91455	0.5184|0.5184	5|10	.|0.42905	.|T	.|0.14	-10.5759|-10.5759	19.7987|19.7987	0.96497|0.96497	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|485;485;657;485;483	.|F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.|.;.;.;KLC1_HUMAN;.	C|M	65;61;59|485;485;485;485;485;485;485;485;485;485;485;485;485;483;657	.|ENSP00000341154:T485M;ENSP00000369377:T485M;ENSP00000374394:T485M;ENSP00000450617:T485M;ENSP00000452487:T485M;ENSP00000334618:T485M;ENSP00000452481:T485M;ENSP00000334523:T485M;ENSP00000246489:T485M;ENSP00000450648:T485M;ENSP00000451242:T485M;ENSP00000414982:T485M;ENSP00000412693:T483M;ENSP00000439065:T657M	.|ENSP00000246489:T485M	R|T	+|+	1|2	0|0	KLC1|KLC1;RP11-73M18.2	103213579|103213579	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.816000|0.816000	0.46133|0.46133	7.776000|7.776000	0.85560|0.85560	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.418	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		81	410	0	0	0	1	0	81	410				
DHX58	79132	broad.mit.edu	37	17	40257933	40257933	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257933G>T	ENST00000251642.3	-	9	1294	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	358	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCCTTTGCAGGATCTTTTCC	0.542																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1072-1074)Ctg>Atg		DEXH (Asp-Glu-X-His) box polypeptide 58							127.0	124.0	125.0					17																	40257933		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40257933G>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1072C>A	17.37:g.40257933G>T	ENSP00000251642:p.Leu358Met						p.L358M	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1294	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	358			Helicase C-terminal.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.1072C>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266381	0.40095	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.07908	3.15	5.17	3.13	0.36017	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.27629	0.0679	M	0.83118	2.625	0.25991	N	0.98225	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05257	-1.0896	10	0.87932	D	0	.	8.6014	0.33747	0.2365:0.0:0.7635:0.0	.	351;358	B7Z455;Q96C10	.;DHX58_HUMAN	M	358;321	ENSP00000251642:L358M	ENSP00000251642:L358M	L	-	1	2	DHX58	37511459	1.000000	0.71417	0.615000	0.29064	0.416000	0.31233	3.191000	0.50981	0.557000	0.29117	0.455000	0.32223	CTG		0.542	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		11	641	1	0	3.86212e-05	1	3.93988e-05	11	641				
KIAA1804	84451	broad.mit.edu	37	1	233514930	233514930	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233514930C>T	ENST00000366624.3	+	9	2439	c.2178C>T	c.(2176-2178)tgC>tgT	p.C726C	MLK4_ENST00000366622.1_Silent_p.C172C	NM_032435.2	NP_115811.2																					TGTATGGGTGCACCGTCCTTC	0.527																																						ENST00000366624.3																			0											c.(2176-2178)tgC>tgT									74.0	79.0	78.0					1																	233514930		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233514930C>T																												ENST00000366624.3:c.2178C>T	1.37:g.233514930C>T						MLK4_ENST00000366622.1_Silent_p.C172C	p.C726C	NM_032435.2	NP_115811.2					9	2439	+									Silent	SNP	ENST00000366624.3	37	c.2178C>T	CCDS1598.1																																																																																				0.527	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			63	377	0	0	0	1	0	63	377				
HECTD1	25831	broad.mit.edu	37	14	31597095	31597095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597095G>A	ENST00000399332.1	-	26	5365	c.4877C>T	c.(4876-4878)aCa>aTa	p.T1626I	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1626	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGATAAAACTGTTGTTGCTGT	0.423																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(4876-4878)aCa>aTa		HECT domain containing E3 ubiquitin protein ligase 1							151.0	142.0	145.0					14																	31597095		1960	4157	6117	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31597095G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4877C>T	14.37:g.31597095G>A	ENSP00000382269:p.Thr1626Ile					HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	p.T1626I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	26	5365	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1626			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.4877C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965877	0.53507	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.08282	3.11;3.11;3.11	6.04	6.04	0.98038	.	0.000000	0.85682	U	0.000000	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.04976	-1.0914	10	0.26408	T	0.33	-11.9377	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1626;1626	D3DS86;Q9ULT8	.;HECD1_HUMAN	I	1626;1628;1626;1053	ENSP00000450697:T1626I;ENSP00000382269:T1626I;ENSP00000451860:T1053I	ENSP00000261312:T1628I	T	-	2	0	HECTD1	30666846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.845000	0.99498	2.873000	0.98535	0.561000	0.74099	ACA		0.423	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			74	323	0	0	0	1	0	74	323				
PKD1	5310	broad.mit.edu	37	16	2164407	2164407	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164407C>G	ENST00000262304.4	-	11	2825	c.2617G>C	c.(2617-2619)Gtc>Ctc	p.V873L	PKD1_ENST00000423118.1_Missense_Mutation_p.V873L|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	873	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGGGCAGACATTCTCAAAG	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2617-2619)Gtc>Ctc		polycystic kidney disease 1 (autosomal dominant)							19.0	16.0	17.0					16																	2164407		2179	4276	6455	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164407C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2617G>C	16.37:g.2164407C>G	ENSP00000262304:p.Val873Leu					PKD1_ENST00000423118.1_Missense_Mutation_p.V873L	p.V873L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			11	2825	-			873			PKD 3.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.2617G>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	5.489	0.275161	0.10403	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.33865	1.39;1.39	4.96	-7.17	0.01511	Polycystin cation channel (1);	0.538685	0.18726	N	0.132895	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.008;0.01	B;B	0.04013	0.001;0.001	T	0.06180	-1.0841	10	0.39692	T	0.17	.	4.6711	0.12689	0.1067:0.2556:0.0826:0.5551	.	873;873	P98161-3;P98161	.;PKD1_HUMAN	L	873	ENSP00000262304:V873L;ENSP00000399501:V873L	ENSP00000262304:V873L	V	-	1	0	PKD1	2104408	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-3.652000	0.00403	-0.952000	0.03649	-0.476000	0.04901	GTC		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			39	141	0	0	0	1	0	39	141				
PKHD1L1	93035	broad.mit.edu	37	8	110505909	110505909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110505909C>T	ENST00000378402.5	+	63	10360	c.10256C>T	c.(10255-10257)aCa>aTa	p.T3419I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3419					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGACCAATACAGTTTTACAG	0.358										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10255-10257)aCa>aTa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							76.0	77.0	77.0					8																	110505909		1822	4068	5890	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110505909C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10256C>T	8.37:g.110505909C>T	ENSP00000367655:p.Thr3419Ile	HNSCC(38;0.096)					p.T3419I	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		63	10360	+			3419					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10256C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079808	0.20309	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.79749	-1.3;-1.3	6.08	6.08	0.98989	Pectin lyase fold/virulence factor (1);	0.201560	0.43747	D	0.000533	T	0.65217	0.2670	N	0.12569	0.235	0.27387	N	0.955256	B	0.18310	0.027	B	0.24701	0.055	T	0.52472	-0.8571	10	0.21014	T	0.42	.	11.4294	0.50032	0.0:0.919:0.0:0.081	.	3419	Q86WI1	PKHL1_HUMAN	I	3419;347	ENSP00000367655:T3419I;ENSP00000437376:T347I	ENSP00000367655:T3419I	T	+	2	0	PKHD1L1	110575085	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.764000	0.62264	2.894000	0.99253	0.591000	0.81541	ACA		0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		26	112	0	0	0	1	0	26	112				
FAM168B	130074	broad.mit.edu	37	2	131813237	131813237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131813237G>A	ENST00000409185.1	-	4	293	c.186C>T	c.(184-186)tcC>tcT	p.S62S	FAM168B_ENST00000389915.3_Silent_p.S62S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	62						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TGGGGGAACAGGACACTTTGT	0.622																																						ENST00000409185.1																			0				endometrium(3)|lung(2)	5						c.(184-186)tcC>tcT		family with sequence similarity 168, member B							43.0	48.0	46.0					2																	131813237		2033	4189	6222	SO:0001819	synonymous_variant	130074							g.chr2:131813237G>A		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.186C>T	2.37:g.131813237G>A						FAM168B_ENST00000389915.3_Silent_p.S62S	p.S62S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN			4	293	-			62					Q2TAZ6|Q6NZ40	Silent	SNP	ENST00000409185.1	37	c.186C>T	CCDS42755.1																																																																																				0.622	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		18	201	0	0	0	1	0	18	201				
CCDC185	164127	broad.mit.edu	37	1	223567616	223567616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223567616C>T	ENST00000366875.3	+	1	902	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		267										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGACCCGTCTCAAGAAGGC	0.632																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(799-801)Ctc>Ttc		chromosome 1 open reading frame 65							26.0	26.0	26.0					1																	223567616		2202	4300	6502	SO:0001583	missense	164127							g.chr1:223567616C>T																												ENST00000366875.3:c.799C>T	1.37:g.223567616C>T	ENSP00000355840:p.Leu267Phe						p.L267F	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	902	+			267					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.799C>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310041	0.23821	.	.	ENSG00000178395	ENST00000366875	T	0.26223	1.75	4.79	4.79	0.61399	.	.	.	.	.	T	0.43456	0.1248	M	0.64997	1.995	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.21724	-1.0237	9	0.38643	T	0.18	.	9.0497	0.36369	0.0:0.8993:0.0:0.1007	.	267	Q8N715	CA065_HUMAN	F	267	ENSP00000355840:L267F	ENSP00000355840:L267F	L	+	1	0	C1orf65	221634239	1.000000	0.71417	0.429000	0.26710	0.146000	0.21551	2.764000	0.47613	2.161000	0.67846	0.650000	0.86243	CTC		0.632	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			39	144	0	0	0	1	0	39	144				
PPEF1	5475	broad.mit.edu	37	X	18824540	18824540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18824540C>T	ENST00000361511.4	+	15	1765	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	424	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATTTTCTGCTTCTAATTAT	0.373																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1270-1272)gCt>gTt		protein phosphatase, EF-hand calcium binding domain 1							130.0	128.0	129.0					X																	18824540		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18824540C>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1271C>T	X.37:g.18824540C>T	ENSP00000354871:p.Ala424Val					PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V|PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V	p.A424V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			15	1765	+	Hepatocellular(33;0.183)		424			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1271C>T	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	c	15.94	2.980000	0.53827	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.57	4.71	0.59529	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.432853	0.21774	N	0.069307	T	0.50633	0.1627	M	0.84773	2.715	0.58432	D	0.999993	D;D;D	0.89917	0.972;1.0;0.972	P;D;P	0.91635	0.536;0.999;0.536	T	0.57081	-0.7872	10	0.72032	D	0.01	-6.5339	13.6719	0.62430	0.0:0.9238:0.0:0.0762	.	362;424;396	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	V	424;371;362;359	ENSP00000354871:A424V;ENSP00000352806:A371V;ENSP00000341892:A362V;ENSP00000441289:A359V	ENSP00000341892:A362V	A	+	2	0	PPEF1	18734461	1.000000	0.71417	0.986000	0.45419	0.102000	0.19082	7.356000	0.79445	1.116000	0.41820	-0.329000	0.08387	GCT		0.373	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		168	478	0	0	0	1	0	168	478				
TJP2	9414	broad.mit.edu	37	9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(2644-2646)gCg>gTg		tight junction protein 2							109.0	104.0	106.0					9																	71861684		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71861684C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2645C>T	9.37:g.71861684C>T	ENSP00000366453:p.Ala882Val					TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V	p.A882V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			18	2853	+			882					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2645C>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168643	0.78339	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.15	5.15	0.70609	.	0.060656	0.64402	D	0.000003	T	0.40222	0.1108	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.986;0.999;1.0	D;P;P;P;P;D	0.91635	0.997;0.861;0.891;0.469;0.891;0.999	T	0.02026	-1.1227	10	0.39692	T	0.17	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	913;886;859;882;882;882	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;.;ZO2_HUMAN;.	V	859;882;882;882;886;913	ENSP00000392178:A859V;ENSP00000366453:A882V;ENSP00000345893:A882V;ENSP00000265384:A882V;ENSP00000442090:A886V;ENSP00000438262:A913V	ENSP00000265384:A882V	A	+	2	0	TJP2	71051504	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.626000	0.61269	2.838000	0.97847	0.655000	0.94253	GCG		0.418	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		79	359	0	0	0	1	0	79	359				
ANKRD11	29123	broad.mit.edu	37	16	89347666	89347666	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347666C>T	ENST00000301030.4	-	9	5744	c.5284G>A	c.(5284-5286)Gac>Aac	p.D1762N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1762					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGAACCTGTCGAAAAAGGAG	0.637																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5284-5286)Gac>Aac		ankyrin repeat domain 11							40.0	42.0	42.0					16																	89347666		2198	4299	6497	SO:0001583	missense	29123					nucleus		g.chr16:89347666C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5284G>A	16.37:g.89347666C>T	ENSP00000301030:p.Asp1762Asn					ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5744	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1762					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5284G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.299473	0.81136	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43294	0.95;0.95	4.9	4.9	0.64082	.	0.226096	0.35436	N	0.003218	T	0.30665	0.0772	L	0.34521	1.04	0.80722	D	1	P	0.37864	0.61	B	0.23574	0.047	T	0.30149	-0.9988	10	0.72032	D	0.01	.	16.8476	0.85985	0.0:1.0:0.0:0.0	.	1762	Q6UB99	ANR11_HUMAN	N	1762	ENSP00000301030:D1762N;ENSP00000367581:D1762N	ENSP00000301030:D1762N	D	-	1	0	ANKRD11	87875167	1.000000	0.71417	0.988000	0.46212	0.877000	0.50540	4.278000	0.58946	2.266000	0.75297	0.457000	0.33378	GAC		0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		121	352	0	0	0	1	0	121	352				
CDK12	51755	broad.mit.edu	37	17	37627662	37627662	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37627662C>A	ENST00000447079.4	+	2	1610	c.1577C>A	c.(1576-1578)cCt>cAt	p.P526H	CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	526					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGACCCCTCCACCTCTT	0.498			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1576-1578)cCt>cAt		cyclin-dependent kinase 12							144.0	153.0	150.0					17																	37627662		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627662C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1577C>A	17.37:g.37627662C>A	ENSP00000398880:p.Pro526His	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1610	+			526					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1577C>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672699	0.29693	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.72051	-0.62;-0.59	5.99	-6.48	0.01896	.	0.643554	0.13842	N	0.358957	T	0.47783	0.1464	N	0.19112	0.55	0.31816	N	0.626596	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.003;0.003;0.008	T	0.14364	-1.0475	10	0.62326	D	0.03	6.8656	8.384	0.32488	0.0976:0.3726:0.0:0.5298	.	525;526;526	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	526	ENSP00000407720:P526H;ENSP00000398880:P526H	ENSP00000407720:P526H	P	+	2	0	CDK12	34881188	0.945000	0.32115	0.480000	0.27341	0.718000	0.41266	0.153000	0.16323	-1.116000	0.02969	-0.140000	0.14226	CCT		0.498	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		172	614	1	0	4.04931e-71	1	5.14713e-71	172	614				
CREB3L2	64764	broad.mit.edu	37	7	137569813	137569813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137569813G>A	ENST00000330387.6	-	10	1549	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	400					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAAGGATAGGGCCCGTAGCCT	0.587			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1198-1200)Ccc>Tcc		cAMP responsive element binding protein 3-like 2							81.0	73.0	76.0					7																	137569813		2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137569813G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1198C>T	7.37:g.137569813G>A	ENSP00000329140:p.Pro400Ser					CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	p.P400S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			10	1549	-			400					Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.1198C>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972067	0.74246	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.65916	0.16;-0.18	5.69	5.69	0.88448	.	0.348076	0.30085	N	0.010452	T	0.64746	0.2626	L	0.55481	1.735	0.80722	D	1	B;B	0.30406	0.215;0.278	B;B	0.36335	0.104;0.222	T	0.61559	-0.7038	10	0.41790	T	0.15	-0.013	19.8786	0.96886	0.0:0.0:1.0:0.0	.	400;400	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	S	400	ENSP00000329140:P400S;ENSP00000403550:P400S	ENSP00000329140:P400S	P	-	1	0	CREB3L2	137220353	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.877000	0.75562	2.708000	0.92522	0.650000	0.86243	CCC		0.587	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		67	287	0	0	0	1	0	67	287				
AFP	174	broad.mit.edu	37	4	74310810	74310810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74310810G>T	ENST00000395792.2	+	7	914	c.814G>T	c.(814-816)Gga>Tga	p.G272*	AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	272	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTTGCAGAGGAGATGTGCT	0.393									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(814-816)Gga>Tga		alpha-fetoprotein							126.0	120.0	122.0					4																	74310810		2203	4300	6503	SO:0001587	stop_gained	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74310810G>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.814G>T	4.37:g.74310810G>T	ENSP00000379138:p.Gly272*					AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	p.G272*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	914	+	Breast(15;0.00102)		272			Albumin 2.		B2RBU3	Nonsense_Mutation	SNP	ENST00000395792.2	37	c.814G>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474626	0.63737	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	.	.	.	5.44	5.44	0.79542	.	0.063410	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	.	.	.	X	272	.	ENSP00000226359:G272X	G	+	1	0	AFP	74529674	1.000000	0.71417	0.323000	0.25347	0.280000	0.26924	5.146000	0.64845	2.832000	0.97577	0.655000	0.94253	GGA		0.393	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			81	385	1	0	2.63401e-43	1	3.21458e-43	81	385				
SYNE2	23224	broad.mit.edu	37	14	64489508	64489508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64489508A>G	ENST00000344113.4	+	38	5776	c.5564A>G	c.(5563-5565)aAa>aGa	p.K1855R	SYNE2_ENST00000554584.1_Missense_Mutation_p.K1855R|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.K1855R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1855					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAACATTAAAGTGAACCTT	0.318																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(5563-5565)aAa>aGa		spectrin repeat containing, nuclear envelope 2							46.0	42.0	43.0					14																	64489508		1822	4080	5902	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64489508A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5564A>G	14.37:g.64489508A>G	ENSP00000341781:p.Lys1855Arg					SYNE2_ENST00000344113.4_Missense_Mutation_p.K1855R|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K1855R	p.K1855R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	38	5794	+			1855					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.5564A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432125	0.25813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.61627	0.48;0.48;0.09	5.75	4.6	0.57074	.	0.471996	0.19589	N	0.110667	T	0.44685	0.1305	L	0.27053	0.805	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.16722	0.007;0.016	T	0.32025	-0.9922	10	0.54805	T	0.06	.	10.5232	0.44931	0.9264:0.0:0.0736:0.0	.	1855;1855	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	R	1855	ENSP00000350719:K1855R;ENSP00000341781:K1855R;ENSP00000452570:K1855R	ENSP00000261678:K1855R	K	+	2	0	SYNE2	63559261	1.000000	0.71417	0.702000	0.30337	0.085000	0.17905	3.292000	0.51772	0.993000	0.38866	0.460000	0.39030	AAA		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	132	0	0	0	1	0	7	132				
XKR3	150165	broad.mit.edu	37	22	17288713	17288713	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17288713A>G	ENST00000331428.5	-	2	353	c.251T>C	c.(250-252)aTc>aCc	p.I84T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAACATCAGGATAATTTGATC	0.338																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(250-252)aTc>aCc		XK, Kell blood group complex subunit-related family, member 3							88.0	82.0	84.0					22																	17288713		1832	4081	5913	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17288713A>G	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.251T>C	22.37:g.17288713A>G	ENSP00000331704:p.Ile84Thr						p.I84T	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			2	353	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	84					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.251T>C	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.902450	0.00058	.	.	ENSG00000172967	ENST00000331428	T	0.61274	0.12	0.539	-1.08	0.09936	.	0.225560	0.35646	U	0.003072	T	0.15046	0.0363	N	0.00313	-1.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32079	-0.9920	10	0.13108	T	0.6	.	4.5592	0.12152	0.4621:0.0:0.5379:0.0	.	84	Q5GH77	XKR3_HUMAN	T	84	ENSP00000331704:I84T	ENSP00000331704:I84T	I	-	2	0	XKR3	15668713	0.919000	0.31177	0.010000	0.14722	0.048000	0.14542	0.251000	0.18257	-0.642000	0.05480	-0.779000	0.03376	ATC		0.338	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		84	298	0	0	0	1	0	84	298				
ZNF423	23090	broad.mit.edu	37	16	49557603	49557603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49557603C>T	ENST00000561648.1	-	7	3810	c.3757G>A	c.(3757-3759)Ggg>Agg	p.G1253R	ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1253					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1253W(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCCTCCTGCCCGTGCACGGCA	0.612																																						ENST00000561648.1																			2	Substitution - Missense(2)	p.G1253W(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3757-3759)Ggg>Agg		zinc finger protein 423							173.0	119.0	137.0					16																	49557603		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49557603C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3757G>A	16.37:g.49557603C>T	ENSP00000455426:p.Gly1253Arg					ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R	p.G1253R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			7	3810	-		all_cancers(37;0.0155)	1253					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3757G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129607	0.94473	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.35605	1.3;1.3	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.37888	-0.9686	9	.	.	.	-19.3624	19.1919	0.93671	0.0:1.0:0.0:0.0	.	1253	Q2M1K9	ZN423_HUMAN	R	1253;1136	ENSP00000262383:G1253R;ENSP00000442321:G1136R	.	G	-	1	0	ZNF423	48115104	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.480000	0.81109	2.532000	0.85374	0.561000	0.74099	GGG		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		10	260	0	0	0	1	0	10	260				
TCHH	7062	broad.mit.edu	37	1	152080722	152080722	+	Silent	SNP	G	G	A	rs190389251	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1657	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTGTTCGCGCTCCTGGC	0.602													G|||	8	0.00159744	0.0	0.0	5008	,	,		20161	0.006		0.0	False		,,,				2504	0.002					ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4969-4971)cgC>cgT		trichohyalin							67.0	68.0	68.0					1																	152080722		1900	4123	6023	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080722G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4971C>T	1.37:g.152080722G>A							p.R1657R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4970	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1657			23 X 26 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.4971C>T	CCDS41396.1																																																																																				0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		13	817	0	0	0	1	0	13	817				
NWD1	284434	broad.mit.edu	37	19	16899861	16899861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16899861C>T	ENST00000552788.1	+	11	2800	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	NWD1_ENST00000523826.1_Silent_p.L728L|NWD1_ENST00000549814.1_Silent_p.L934L|NWD1_ENST00000379808.3_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000524140.2_Silent_p.L934L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	934							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGATTACACGCTGCACTTGTG	0.493																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2800-2802)Ctg>Ttg		NACHT and WD repeat domain containing 1							114.0	111.0	112.0					19																	16899861		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16899861C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2800C>T	19.37:g.16899861C>T						NWD1_ENST00000552788.1_Silent_p.L934L|NWD1_ENST00000523826.1_Silent_p.L728L|NWD1_ENST00000549814.1_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000379808.3_Silent_p.L934L	p.L934L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			13	3218	+			934					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.2800C>T																																																																																					0.493	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		94	324	0	0	0	1	0	94	324				
RINT1	60561	broad.mit.edu	37	7	105204333	105204333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105204333C>T	ENST00000257700.2	+	12	2056	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATGTTGACCCGTCAAGTAGA	0.383																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1825-1827)Cgt>Tgt		RAD50 interactor 1							103.0	92.0	96.0					7																	105204333		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105204333C>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1825C>T	7.37:g.105204333C>T	ENSP00000257700:p.Arg609Cys						p.R609C	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			12	2056	+			609			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1825C>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352824	0.82132	.	.	ENSG00000135249	ENST00000257700	T	0.31510	1.49	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.53486	-0.8432	10	0.56958	D	0.05	-16.4485	16.034	0.80608	0.0:0.9353:0.0:0.0647	.	609	Q6NUQ1	RINT1_HUMAN	C	609	ENSP00000257700:R609C	ENSP00000257700:R609C	R	+	1	0	RINT1	104991569	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.233000	0.51311	1.596000	0.50062	0.655000	0.94253	CGT		0.383	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		35	244	0	0	0	1	0	35	244				
ANKRD35	148741	broad.mit.edu	37	1	145561096	145561096	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145561096G>A	ENST00000355594.4	+	10	871	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	262										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCAACATAGGCCTCTCCATC	0.527																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.e10-1		ankyrin repeat domain 35							34.0	40.0	38.0					1																	145561096		2203	4300	6503	SO:0001630	splice_region_variant	148741							g.chr1:145561096G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.784-1G>A	1.37:g.145561096G>A						ANKRD35_ENST00000544626.1_3'UTR	p.A262_splice	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	871	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		262					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Splice_Site	SNP	ENST00000355594.4	37	c.783_splice	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986217	0.35036	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.65916	-0.18	5.77	3.91	0.45181	.	0.239499	0.29602	N	0.011683	T	0.25232	0.0613	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.08086	-1.0739	9	.	.	.	-0.742	8.9586	0.35834	0.1698:0.0:0.8302:0.0	.	262	Q8N283	ANR35_HUMAN	T	171;262	ENSP00000347802:A262T	.	A	+	1	0	ANKRD35	144272453	1.000000	0.71417	0.986000	0.45419	0.137000	0.21094	1.100000	0.31025	0.908000	0.36671	0.655000	0.94253	GCC		0.527	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	Missense_Mutation	40	129	0	0	0	1	0	40	129				
SERTAD4	56256	broad.mit.edu	37	1	210415304	210415304	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415304C>A	ENST00000367012.3	+	4	923	c.693C>A	c.(691-693)tcC>tcA	p.S231S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	231	Ser-rich.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		cttcctcttcctctccccctT	0.488																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(691-693)tcC>tcA		SERTA domain containing 4							75.0	69.0	71.0					1																	210415304		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415304C>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.693C>A	1.37:g.210415304C>A						SERTAD4_ENST00000490620.1_3'UTR	p.S231S	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	923	+			231			Ser-rich.		B2RD32	Silent	SNP	ENST00000367012.3	37	c.693C>A	CCDS1494.1																																																																																				0.488	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		115	345	1	0	7.59108e-50	1	9.39492e-50	115	345				
TENM2	57451	broad.mit.edu	37	5	167645592	167645592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167645592C>T	ENST00000518659.1	+	23	4735	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	TENM2_ENST00000545108.1_Missense_Mutation_p.R1565W|TENM2_ENST00000403607.2_Missense_Mutation_p.R1390W|TENM2_ENST00000519204.1_Missense_Mutation_p.R1445W|TENM2_ENST00000520394.1_Missense_Mutation_p.R1327W	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1566					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)										TGGAAATATTCGGATCAGGGC	0.483																																						ENST00000519204.1																			0											c.(4333-4335)Cgg>Tgg		teneurin transmembrane protein 2							166.0	160.0	162.0					5																	167645592		1954	4138	6092	SO:0001583	missense	57451							g.chr5:167645592C>T	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.4696C>T	5.37:g.167645592C>T	ENSP00000429430:p.Arg1566Trp					TENM2_ENST00000545108.1_Missense_Mutation_p.R1565W|TENM2_ENST00000403607.2_Missense_Mutation_p.R1390W|TENM2_ENST00000520394.1_Missense_Mutation_p.R1327W|TENM2_ENST00000518659.1_Missense_Mutation_p.R1566W	p.R1445W							22	4451	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4333C>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.587215	0.86851	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;T;D;D;D	0.91180	-2.8;0.38;-2.8;-2.8;-2.8	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.048995	0.85682	D	0.000000	D	0.96259	0.8780	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	D	0.96120	0.9084	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1565;1566;1327	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	W	1566;1565;1445;1327;1390	ENSP00000429430:R1566W;ENSP00000438635:R1565W;ENSP00000428964:R1445W;ENSP00000427874:R1327W;ENSP00000384905:R1390W	ENSP00000384905:R1390W	R	+	1	2	ODZ2	167578170	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CGG		0.483	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		155	698	0	0	0	1	0	155	698				
DNAH11	8701	broad.mit.edu	37	7	21659634	21659634	+	Nonsense_Mutation	SNP	C	C	T	rs72657321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21659634C>T	ENST00000409508.3	+	25	4469	c.4438C>T	c.(4438-4440)Cga>Tga	p.R1480*	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1485*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1485	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTTCACTATCGAACAGGCAT	0.308									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4453-4455)Cga>Tga		dynein, axonemal, heavy chain 11							84.0	79.0	80.0					7																	21659634		1812	4073	5885	SO:0001587	stop_gained	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21659634C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4438C>T	7.37:g.21659634C>T	ENSP00000475939:p.Arg1480*					DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1480*	p.R1485*			Q96DT5	DYH11_HUMAN			25	4484	+			1485			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.4453C>T		.	.	.	.	.	.	.	.	.	.	C	45	11.304859	0.99544	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.47	3.49	0.39957	.	0.552784	0.17274	N	0.180253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9568	0.41671	0.4061:0.4847:0.1092:0.0	.	.	.	.	X	1485	.	ENSP00000330671:R1485X	R	+	1	2	DNAH11	21626159	0.089000	0.21612	1.000000	0.80357	0.935000	0.57460	0.459000	0.21908	1.231000	0.43661	0.563000	0.77884	CGA		0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		42	204	0	0	0	1	0	42	204				
OR4C3	256144	broad.mit.edu	37	11	48346535	48346535	+	Missense_Mutation	SNP	G	G	T	rs76964780	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48346535G>T	ENST00000319856.4	+	1	64	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTCTTTATAGGCAATACTGC	0.383																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(43-45)Ggc>Tgc		olfactory receptor, family 4, subfamily C, member 3							118.0	122.0	121.0					11																	48346535		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346535G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.43G>T	11.37:g.48346535G>T	ENSP00000321419:p.Gly15Cys						p.G15C	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	64	+			168					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.43G>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583278	0.65992	.	.	ENSG00000176547	ENST00000319856	T	0.08102	3.13	5.56	4.64	0.57946	.	1.040110	0.07705	N	0.941067	T	0.16385	0.0394	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32052	-0.9921	7	0.87932	D	0	.	12.6524	0.56768	0.0814:0.0:0.9186:0.0	.	.	.	.	C	15	ENSP00000321419:G15C	ENSP00000321419:G15C	G	+	1	0	OR4C3	48303111	0.000000	0.05858	0.311000	0.25182	0.524000	0.34500	0.455000	0.21843	1.363000	0.46019	0.549000	0.68633	GGC		0.383	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		105	549	1	0	2.13536e-36	1	2.55586e-36	105	549				
GCC1	79571	broad.mit.edu	37	7	127224482	127224482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224482T>G	ENST00000321407.2	-	1	1179	c.755A>C	c.(754-756)aAg>aCg	p.K252T	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	252					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCAGCTTCTGGAGCTC	0.567											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(754-756)aAg>aCg		GRIP and coiled-coil domain containing 1							75.0	73.0	74.0					7																	127224482		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224482T>G	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.755A>C	7.37:g.127224482T>G	ENSP00000318821:p.Lys252Thr		OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.K252T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	1179	-			252					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.755A>C	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016296	0.75161	.	.	ENSG00000179562	ENST00000321407	T	0.46819	0.86	5.91	5.91	0.95273	.	0.099286	0.64402	D	0.000002	T	0.60183	0.2249	M	0.72894	2.215	0.58432	D	0.999997	D	0.69078	0.997	P	0.60789	0.879	T	0.60667	-0.7218	10	0.33141	T	0.24	-24.8249	8.765	0.34698	0.0:0.0829:0.0:0.9171	.	252	Q96CN9	GCC1_HUMAN	T	252	ENSP00000318821:K252T	ENSP00000318821:K252T	K	-	2	0	GCC1	127011718	0.992000	0.36948	0.994000	0.49952	0.988000	0.76386	2.219000	0.42899	2.254000	0.74563	0.533000	0.62120	AAG		0.567	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		63	339	0	0	0	1	0	63	339				
ZFHX4	79776	broad.mit.edu	37	8	77764883	77764883	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764883C>A	ENST00000521891.2	+	10	6174	c.5726C>A	c.(5725-5727)gCc>gAc	p.A1909D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAAATGCTGCCAAAGCGTTA	0.458										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5725-5727)gCc>gAc		zinc finger homeobox 4							27.0	25.0	26.0					8																	77764883		1896	4109	6005	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764883C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5726C>A	8.37:g.77764883C>A	ENSP00000430497:p.Ala1909Asp	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D	p.A1909D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6174	+			1864					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5726C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279827	0.59758	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.68;0.64;0.63	4.71	4.71	0.59529	.	0.000000	0.41823	U	0.000808	T	0.54598	0.1868	M	0.68952	2.095	0.80722	D	1	P;P;P	0.51351	0.906;0.944;0.944	B;P;P	0.47573	0.348;0.55;0.55	T	0.54820	-0.8236	10	0.32370	T	0.25	.	18.2749	0.90080	0.0:1.0:0.0:0.0	.	1864;1864;1909	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	1909;1909;1864;1864;1883	ENSP00000430497:A1909D;ENSP00000399605:A1864D;ENSP00000050961:A1864D;ENSP00000430848:A1883D	ENSP00000050961:A1864D	A	+	2	0	ZFHX4	77927438	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.594000	0.82698	2.631000	0.89168	0.632000	0.83419	GCC		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	92	1	0	1.02788e-11	1	1.09837e-11	18	92				
ASXL1	171023	broad.mit.edu	37	20	31021562	31021562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31021562G>A	ENST00000375687.4	+	12	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	521	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAACCCAAGGATCAGAAGAG	0.522			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1561-1563)Gat>Aat		additional sex combs like 1 (Drosophila)							131.0	142.0	139.0					20																	31021562		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021562G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1561G>A	20.37:g.31021562G>A	ENSP00000364839:p.Asp521Asn					ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	p.D521N	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	1985	+			521					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1561G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871943	0.91587	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.41065	1.01;1.01	4.91	4.91	0.64330	.	0.216198	0.47455	D	0.000236	T	0.62245	0.2412	M	0.65975	2.015	0.54753	D	0.999989	D;D	0.76494	0.999;0.988	D;P	0.66084	0.941;0.871	T	0.60840	-0.7183	10	0.42905	T	0.14	-6.3966	18.6696	0.91506	0.0:0.0:1.0:0.0	.	516;521	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	521;521;521;460;516	ENSP00000364839:D521N;ENSP00000305119:D516N	ENSP00000305119:D516N	D	+	1	0	ASXL1	30485223	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.113000	0.94321	2.723000	0.93209	0.655000	0.94253	GAT		0.522	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		212	949	0	0	0	1	0	212	949				
BPTF	2186	broad.mit.edu	37	17	65862593	65862593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862593G>A	ENST00000321892.4	+	3	1511	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	BPTF_ENST00000306378.6_Missense_Mutation_p.E484K|BPTF_ENST00000335221.5_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	484					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAGATACAGAAAATGAAAA	0.333																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1450-1452)Gaa>Aaa		bromodomain PHD finger transcription factor							68.0	80.0	76.0					17																	65862593		2198	4297	6495	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65862593G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1450G>A	17.37:g.65862593G>A	ENSP00000315454:p.Glu484Lys					BPTF_ENST00000306378.6_Missense_Mutation_p.E484K|BPTF_ENST00000335221.5_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K	p.E484K			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1511	+	all_cancers(12;6e-11)		484					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1450G>A		.	.	.	.	.	.	.	.	.	.	G	17.37	3.372993	0.61624	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.65178	-0.1;-0.14;-0.13	5.84	5.84	0.93424	.	.	.	.	.	T	0.74741	0.3756	M	0.65975	2.015	0.58432	D	0.999999	P;D;D	0.56968	0.457;0.972;0.978	B;P;P	0.56343	0.081;0.737;0.796	T	0.76454	-0.2953	9	0.72032	D	0.01	.	18.3357	0.90287	0.0:0.0:1.0:0.0	.	484;484;484	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	K	389;484;484;484;345	ENSP00000307208:E484K;ENSP00000334351:E484K;ENSP00000315454:E484K	ENSP00000307208:E484K	E	+	1	0	BPTF	63293055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.177000	0.89688	2.760000	0.94817	0.655000	0.94253	GAA		0.333	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		104	530	0	0	0	1	0	104	530				
PIK3R4	30849	broad.mit.edu	37	3	130435274	130435274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130435274G>A	ENST00000356763.3	-	9	2854	c.2297C>T	c.(2296-2298)gCc>gTc	p.A766V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	766					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGTGCTATGGCAGGATCCTC	0.418																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2296-2298)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 4							91.0	97.0	95.0					3																	130435274		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130435274G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2297C>T	3.37:g.130435274G>A	ENSP00000349205:p.Ala766Val						p.A766V	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			9	2854	-			766					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2297C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276871	0.59758	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.50548	0.94;0.91;0.78;0.74	5.21	5.21	0.72293	.	0.101966	0.64402	D	0.000002	T	0.45736	0.1357	L	0.54323	1.7	0.58432	D	0.999997	B	0.33883	0.43	B	0.30943	0.122	T	0.42327	-0.9458	10	0.37606	T	0.19	-7.1737	18.7681	0.91881	0.0:0.0:1.0:0.0	.	766	Q99570	PI3R4_HUMAN	V	766;125;125;125	ENSP00000349205:A766V;ENSP00000427302:A125V;ENSP00000424274:A125V;ENSP00000422767:A125V	ENSP00000349205:A766V	A	-	2	0	PIK3R4	131917964	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.659000	0.83766	2.439000	0.82584	0.655000	0.94253	GCC		0.418	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		73	372	0	0	0	1	0	73	372				
RASL10A	10633	broad.mit.edu	37	22	29707995	29707995	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29707995C>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000403764.1_Silent_p.S518S|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000471961.1_Silent_p.S518S|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Intron|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000407854.1_Silent_p.S518S|GAS2L1_ENST00000407647.2_Silent_p.S518S	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						GCAGCTGTTCCGGCGCCTGGA	0.687																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1552-1554)tcC>tcT		growth arrest-specific 2 like 1							37.0	48.0	44.0					22																	29707995		2041	4200	6241	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707995C>T	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29707995C>T						GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000407647.2_Silent_p.S518S|GAS2L1_ENST00000403764.1_Silent_p.S518S|GAS2L1_ENST00000407854.1_Silent_p.S518S|GAS2L1_ENST00000360113.2_3'UTR	p.S518S			Q99501	GA2L1_HUMAN			5	2602	+			364					Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	c.1554C>T	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	1.243	-0.620883	0.03636	.	.	ENSG00000185340	ENST00000333679	.	.	.	3.68	-1.41	0.08941	.	0.210963	0.28354	N	0.015652	T	0.33818	0.0876	.	.	.	0.35131	D	0.767955	B;B	0.16396	0.017;0.017	B;B	0.10450	0.005;0.005	T	0.05289	-1.0894	8	0.45353	T	0.12	-1.7584	4.3281	0.11050	0.3098:0.501:0.0:0.1891	.	519;519	A0A5E8;Q99501	.;GA2L1_HUMAN	W	518	.	ENSP00000332834:R518W	R	+	1	2	GAS2L1	28037995	0.094000	0.21725	0.000000	0.03702	0.236000	0.25371	1.479000	0.35453	-0.419000	0.07439	0.491000	0.48974	CGG		0.687	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			146	530	0	0	0	1	0	146	530				
ZNF793	390927	broad.mit.edu	37	19	38028593	38028593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028593G>A	ENST00000587143.1	+	6	1268	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.G345R|ZNF793_ENST00000445217.1_Missense_Mutation_p.G345R			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGAATGTGGAAAATCCTT	0.448																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(1033-1035)Gga>Aga		zinc finger protein 793							90.0	100.0	96.0					19																	38028593		2161	4286	6447	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028593G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1033G>A	19.37:g.38028593G>A	ENSP00000468605:p.Gly345Arg					ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.G345R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.G345R	p.G345R			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1068	+			345					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.1033G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522078	0.85600	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.58506	0.33;0.33	4.13	4.13	0.48395	.	0.000000	0.36703	N	0.002453	T	0.75155	0.3811	M	0.75264	2.295	0.41158	D	0.986073	D	0.89917	1.0	D	0.87578	0.998	T	0.79619	-0.1728	10	0.72032	D	0.01	.	15.6579	0.77158	0.0:0.0:1.0:0.0	.	345	E9PGN4	.	R	345;345;345;344	ENSP00000444355:G345R;ENSP00000396402:G345R	ENSP00000318811:G344R	G	+	1	0	ZNF793	42720433	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.656000	0.61483	2.276000	0.75962	0.650000	0.86243	GGA		0.448	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		33	177	0	0	0	1	0	33	177				
KIAA1804	84451	broad.mit.edu	37	1	233482285	233482285	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233482285A>C	ENST00000366624.3	+	2	1164	c.903A>C	c.(901-903)aaA>aaC	p.K301N	MLK4_ENST00000366623.3_Missense_Mutation_p.K301N	NM_032435.2	NP_115811.2																					GGACCACCAAAATGAGCACAG	0.458																																						ENST00000366624.3																			0											c.(901-903)aaA>aaC									102.0	96.0	98.0					1																	233482285		2203	4300	6503	SO:0001583	missense	0							g.chr1:233482285A>C																												ENST00000366624.3:c.903A>C	1.37:g.233482285A>C	ENSP00000355583:p.Lys301Asn					MLK4_ENST00000366623.3_Missense_Mutation_p.K301N	p.K301N	NM_032435.2	NP_115811.2					2	1164	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.903A>C	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.512839	0.64522	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.83673	-1.75;-1.75	4.49	2.13	0.27403	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.125359	0.52532	D	0.000067	T	0.76637	0.4015	N	0.11427	0.14	0.80722	D	1	P;P	0.45212	0.853;0.57	P;P	0.57720	0.826;0.521	T	0.73300	-0.4026	10	0.52906	T	0.07	.	6.5382	0.22365	0.5676:0.0:0.4324:0.0	.	301;301	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	N	301	ENSP00000355582:K301N;ENSP00000355583:K301N	ENSP00000355582:K301N	K	+	3	2	RP5-862P8.2	231548908	0.941000	0.31946	0.993000	0.49108	0.985000	0.73830	0.232000	0.17891	0.238000	0.21222	0.460000	0.39030	AAA		0.458	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			44	265	0	0	0	1	0	44	265				
MAP1B	4131	broad.mit.edu	37	5	71495341	71495341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495341G>T	ENST00000296755.7	+	5	6457	c.6159G>T	c.(6157-6159)caG>caT	p.Q2053H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2053					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAACCCCTCAGGCATCCACAT	0.468																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6157-6159)caG>caT		microtubule-associated protein 1B							119.0	130.0	126.0					5																	71495341		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495341G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6159G>T	5.37:g.71495341G>T	ENSP00000296755:p.Gln2053His						p.Q2053H	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6457	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2053					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6159G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029292	0.07589	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.68	2.4	0.29515	.	0.098257	0.45126	D	0.000385	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999998	D;B	0.58970	0.984;0.011	P;B	0.46796	0.527;0.005	T	0.44742	-0.9308	10	0.52906	T	0.07	-18.0727	3.7741	0.08653	0.313:0.0:0.4124:0.2745	.	1927;2053	A2BDK6;P46821	.;MAP1B_HUMAN	H	2053	ENSP00000296755:Q2053H	ENSP00000296755:Q2053H	Q	+	3	2	MAP1B	71531097	0.273000	0.24181	0.614000	0.29051	0.294000	0.27393	0.403000	0.20982	0.711000	0.32018	0.655000	0.94253	CAG		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		119	576	1	0	3.19965e-69	1	4.05994e-69	119	576				
COL1A2	1278	broad.mit.edu	37	7	94054952	94054952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94054952C>T	ENST00000297268.6	+	43	3283	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	938					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCAGGTCGCGATGGTCA	0.483										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2812-2814)Cgc>Tgc		collagen, type I, alpha 2	Collagenase(DB00048)						106.0	96.0	99.0					7																	94054952		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054952C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2812C>T	7.37:g.94054952C>T	ENSP00000297268:p.Arg938Cys	HNSCC(75;0.22)					p.R938C	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		43	3283	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		938					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2812C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428428	0.83667	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94330	-3.4	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97202	0.9865	10	0.87932	D	0	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	938	P08123	CO1A2_HUMAN	C	938;939	ENSP00000297268:R938C	ENSP00000297268:R938C	R	+	1	0	COL1A2	93892888	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGC		0.483	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		53	298	0	0	0	1	0	53	298				
C19orf44	84167	broad.mit.edu	37	19	16612313	16612313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16612313G>A	ENST00000221671.3	+	2	866	c.710G>A	c.(709-711)gGc>gAc	p.G237D	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G237D	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	237										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACGAATCAAGGCTTCAGCAGC	0.333																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(709-711)gGc>gAc		chromosome 19 open reading frame 44							58.0	60.0	59.0					19																	16612313		2200	4299	6499	SO:0001583	missense	84167							g.chr19:16612313G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.710G>A	19.37:g.16612313G>A	ENSP00000221671:p.Gly237Asp					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G237D	p.G237D	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			2	866	+			237					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.710G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681165	0.29872	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.0	1.09	0.20402	.	0.908465	0.09154	N	0.841061	T	0.37972	0.1023	L	0.54323	1.7	0.09310	N	1	P;D	0.58268	0.931;0.982	P;P	0.56514	0.602;0.8	T	0.29761	-1.0001	9	0.06494	T	0.89	-4.9827	3.6107	0.08060	0.0973:0.1415:0.5473:0.2139	.	237;237	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	D	237	.	ENSP00000221671:G237D	G	+	2	0	C19orf44	16473313	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.037000	0.12164	0.580000	0.29522	0.655000	0.94253	GGC		0.333	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		65	354	0	0	0	1	0	65	354				
MCOLN2	255231	broad.mit.edu	37	1	85412808	85412808	+	Missense_Mutation	SNP	A	A	C	rs565640535		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85412808A>C	ENST00000370608.3	-	7	822	c.755T>G	c.(754-756)tTt>tGt	p.F252C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	252					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTATTGTCAAAGATAATCTG	0.318													A|||	1	0.000199681	0.0	0.0	5008	,	,		18471	0.001		0.0	False		,,,				2504	0.0					ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(754-756)tTt>tGt		mucolipin 2							119.0	120.0	120.0					1																	85412808		2203	4297	6500	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85412808A>C	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.755T>G	1.37:g.85412808A>C	ENSP00000359640:p.Phe252Cys					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	p.F252C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	7	822	-			252					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.755T>G	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210170	0.58343	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.87029	-2.2;-2.2	5.76	4.62	0.57501	.	0.149988	0.64402	D	0.000008	D	0.90235	0.6947	M	0.84326	2.69	0.58432	D	0.999997	D	0.71674	0.998	P	0.60789	0.879	D	0.91260	0.5036	10	0.87932	D	0	-25.6273	11.5912	0.50947	0.854:0.0:0.0:0.146	.	252	Q8IZK6	MCLN2_HUMAN	C	252;224	ENSP00000359640:F252C;ENSP00000284027:F224C	ENSP00000284027:F224C	F	-	2	0	MCOLN2	85185396	1.000000	0.71417	0.906000	0.35671	0.586000	0.36452	7.081000	0.76844	0.984000	0.38629	0.472000	0.43445	TTT		0.318	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		60	249	0	0	0	1	0	60	249				
FMO2	2327	broad.mit.edu	37	1	171173107	171173107	+	Missense_Mutation	SNP	G	G	A	rs144453751	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171173107G>A	ENST00000209929.7	+	6	889	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FMO2_ENST00000441535.1_Missense_Mutation_p.R244H|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	244					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTATGCTCCGCAATGTACTG	0.473													G|||	5	0.000998403	0.0	0.0	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.0051					ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(730-732)cGc>cAc		flavin containing monooxygenase 2 (non-functional)		G	HIS/ARG	0,4406		0,0,2203	124.0	100.0	108.0		731	2.1	0.5	1	dbSNP_134	108	2,8598	2.2+/-6.3	0,2,4298	no	missense	FMO2	NM_001460.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	244/472	171173107	2,13004	2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171173107G>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.731G>A	1.37:g.171173107G>A	ENSP00000209929:p.Arg244His					FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Missense_Mutation_p.R244H|RP1-127D3.4_ENST00000445290.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	p.R244H	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			6	848	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		244					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.731G>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080127	0.36662	0.0	2.33E-4	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.55413	0.52;0.52	6.13	2.14	0.27477	.	0.510314	0.20530	N	0.090523	T	0.49423	0.1556	M	0.69523	2.12	0.20196	N	0.999921	D	0.64830	0.994	D	0.66084	0.941	T	0.42378	-0.9455	10	0.30078	T	0.28	-4.5642	8.6367	0.33953	0.4608:0.0:0.5392:0.0	.	244	Q99518	FMO2_HUMAN	H	244	ENSP00000209929:R244H;ENSP00000405905:R244H	ENSP00000209929:R244H	R	+	2	0	FMO2	169439731	0.000000	0.05858	0.525000	0.27900	0.025000	0.11179	-0.123000	0.10611	0.151000	0.19162	-0.141000	0.14075	CGC		0.473	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		51	221	0	0	0	1	0	51	221				
MYL6	4637	broad.mit.edu	37	12	56552389	56552389	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56552389G>T	ENST00000550697.1	+	2	244				MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.W68C|MYL6_ENST00000536128.1_Missense_Mutation_p.W68C|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000348108.4_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000549017.1_Intron	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGAGTTTGTGGGTCAGAGTTT	0.567																																						ENST00000536128.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(202-204)tgG>tgT		myosin, light chain 6, alkali, smooth muscle and non-muscle							53.0	56.0	55.0					12																	56552389		692	1591	2283	SO:0001627	intron_variant	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56552389G>T	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.4-79G>T	12.37:g.56552389G>T						MYL6_ENST00000348108.4_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.W68C|MYL6_ENST00000549017.1_Intron	p.W68C			P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		1	244	+			0					P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.204G>T	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	N	9.449	1.089972	0.20390	.	.	ENSG00000092841	ENST00000549566;ENST00000536128	T;T	0.77877	-0.94;-1.13	1.61	0.7	0.18099	.	.	.	.	.	T	0.81375	0.4809	.	.	.	0.24625	N	0.993655	D	0.63046	0.992	P	0.61722	0.893	T	0.68265	-0.5454	8	0.62326	D	0.03	.	4.1351	0.10167	0.2162:0.0:0.7838:0.0	.	68	B7Z6Z4	.	C	68	ENSP00000446709:W68C;ENSP00000441750:W68C	ENSP00000441750:W68C	W	+	3	0	MYL6	54838656	0.364000	0.24997	0.738000	0.30950	0.755000	0.42902	0.981000	0.29526	0.314000	0.23086	0.544000	0.68410	TGG		0.567	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			126	553	1	0	9.82526e-55	1	1.22692e-54	126	553				
KCNH7	90134	broad.mit.edu	37	2	163279902	163279902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163279902G>A	ENST00000332142.5	-	9	2197	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	700					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L700I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATTCTTCAAGACGTTGCCTC	0.453																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.L700I(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2098-2100)Ctt>Ttt		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						253.0	235.0	242.0					2																	163279902		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163279902G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2098C>T	2.37:g.163279902G>A	ENSP00000331727:p.Leu700Phe					KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	p.L700F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			9	2197	-			700					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2098C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206461	0.95033	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96913	-4.17;-4.17	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.98837	1.0753	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	693;700	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	F	700;693	ENSP00000331727:L700F;ENSP00000333781:L693F	ENSP00000333781:L693F	L	-	1	0	KCNH7	162988148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.729000	0.74775	2.824000	0.97209	0.655000	0.94253	CTT		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		258	713	0	0	0	1	0	258	713				
CNNM1	26507	broad.mit.edu	37	10	101090473	101090473	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101090473C>T	ENST00000356713.4	+	1	1618	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	CNNM1_ENST00000370534.4_Silent_p.R78R|CNNM1_ENST00000446890.1_Silent_p.R372R|CNNM1_ENST00000370528.3_Silent_p.R372R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	443	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TCATGCTGCGCTCAGACGCGG	0.612																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1327-1329)cgC>cgT		cyclin M1							79.0	66.0	71.0					10																	101090473		2203	4300	6503	SO:0001819	synonymous_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101090473C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1329C>T	10.37:g.101090473C>T						CNNM1_ENST00000370534.4_Silent_p.R78R|CNNM1_ENST00000370528.3_Silent_p.R372R|CNNM1_ENST00000446890.1_Silent_p.R372R	p.R443R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	1618	+		Colorectal(252;0.234)	443			CBS 1.		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	c.1329C>T	CCDS7478.2																																																																																				0.612	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		51	237	0	0	0	1	0	51	237				
RAD9B	144715	broad.mit.edu	37	12	110960151	110960151	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110960151A>G	ENST00000409778.3	+	8	877	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409246.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	351					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGGAGATGTCAGTGAAGTATC	0.453																																						ENST00000409246.1																			0				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(844-846)Agt>Ggt		RAD9 homolog B (S. pombe)							78.0	62.0	67.0					12																	110960151		2203	4300	6503	SO:0001583	missense	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110960151A>G		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.853A>G	12.37:g.110960151A>G	ENSP00000386697:p.Ser285Gly					RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G|RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409778.3_Missense_Mutation_p.S285G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G	p.S282G			Q6WBX8	RAD9B_HUMAN			10	1169	+			351					Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	37	c.844A>G		.	.	.	.	.	.	.	.	.	.	A	10.97	1.501926	0.26949	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.24723	1.84;2.16;2.17;1.84;2.12	4.98	-4.0	0.04057	.	1.174800	0.06233	N	0.688940	T	0.12944	0.0314	N	0.25380	0.74	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.30937	-0.9961	10	0.30854	T	0.27	0.0269	0.5283	0.00624	0.2512:0.1341:0.2771:0.3376	.	285;354;351	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	G	282;354;354;282;285	ENSP00000387329:S282G;ENSP00000376440:S354G;ENSP00000386434:S354G;ENSP00000386629:S282G;ENSP00000386697:S285G	ENSP00000376440:S354G	S	+	1	0	RAD9B	109444534	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-0.101000	0.10973	-0.288000	0.09051	0.459000	0.35465	AGT		0.453	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	NM_152442		38	86	0	0	0	1	0	38	86				
CCDC42	146849	broad.mit.edu	37	17	8638511	8638511	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638511A>G	ENST00000293845.3	-	6	1002	c.776T>C	c.(775-777)aTt>aCt	p.I259T	CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	259										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GGCCATCTTAATGGTGCCAAG	0.572																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(775-777)aTt>aCt		coiled-coil domain containing 42							145.0	114.0	125.0					17																	8638511		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638511A>G	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.776T>C	17.37:g.8638511A>G	ENSP00000293845:p.Ile259Thr					CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	p.I259T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			6	1002	-			259					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.776T>C	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169964	0.57584	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.29397	1.57;1.58	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000021	T	0.42471	0.1204	L	0.37630	1.12	0.40759	D	0.982985	D	0.76494	0.999	D	0.70716	0.97	T	0.17471	-1.0368	10	0.24483	T	0.36	-13.7427	13.9048	0.63828	1.0:0.0:0.0:0.0	.	259	Q96M95	CCD42_HUMAN	T	259;185	ENSP00000293845:I259T;ENSP00000444359:I185T	ENSP00000293845:I259T	I	-	2	0	CCDC42	8579236	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	7.008000	0.76341	2.127000	0.65507	0.460000	0.39030	ATT		0.572	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		10	248	0	0	0	1	0	10	248				
KDM1B	221656	broad.mit.edu	37	6	18197423	18197423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18197423G>A	ENST00000297792.5	+	9	886	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M|KDM1B_ENST00000388870.2_Missense_Mutation_p.V369M			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	369					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGTTCTCAGCGTGGGAGCCGA	0.478																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1105-1107)Gtg>Atg		lysine (K)-specific demethylase 1B							93.0	78.0	83.0					6																	18197423		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18197423G>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.709G>A	6.37:g.18197423G>A	ENSP00000297792:p.Val237Met					KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.V237M	p.V369M			Q8NB78	KDM1B_HUMAN			11	1346	+			369			SWIRM.		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1105G>A	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609532	0.87258	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.33438	1.43;1.41;1.41	5.97	5.97	0.96955	Homeodomain-like (1);SWIRM (1);	0.433457	0.23626	N	0.046194	T	0.41994	0.1183	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.66602	0.469;0.945	T	0.11717	-1.0576	10	0.54805	T	0.06	-19.5281	20.4135	0.99023	0.0:0.0:1.0:0.0	.	369;237	Q8NB78;A2A2C6	KDM1B_HUMAN;.	M	369;237;237;369	ENSP00000373522:V369M;ENSP00000380419:V237M;ENSP00000297792:V237M	ENSP00000297792:V237M	V	+	1	0	KDM1B	18305402	1.000000	0.71417	0.283000	0.24790	0.995000	0.86356	9.395000	0.97266	2.835000	0.97688	0.591000	0.81541	GTG		0.478	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		38	195	0	0	0	1	0	38	195				
IRF1	3659	broad.mit.edu	37	5	131820175	131820175	+	Silent	SNP	C	C	T	rs201186445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131820175C>T	ENST00000245414.4	-	9	990	c.732G>A	c.(730-732)tcG>tcA	p.S244S	IRF1_ENST00000405885.2_Silent_p.S244S|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	244					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCTGCCACTCCGACTGCTCCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		22090	0.001		0.0	False		,,,				2504	0.0					ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(730-732)tcG>tcA		interferon regulatory factor 1							115.0	114.0	114.0					5																	131820175		2203	4300	6503	SO:0001819	synonymous_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131820175C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.732G>A	5.37:g.131820175C>T						IRF1_ENST00000405885.2_Silent_p.S244S	p.S244S	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	9	990	-		all_cancers(142;0.026)|Breast(839;0.198)	244					Q96GG7	Silent	SNP	ENST00000245414.4	37	c.732G>A	CCDS4155.1																																																																																				0.567	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		94	509	0	0	0	1	0	94	509				
OTUD7A	161725	broad.mit.edu	37	15	31822993	31822993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31822993G>T	ENST00000307050.4	-	4	661	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_ENST00000382902.1_Missense_Mutation_p.S190Y	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	190	Catalytic. {ECO:0000250}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCACACAGTGGACCACCAGTT	0.527																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(568-570)tCc>tAc		OTU domain containing 7A							110.0	94.0	99.0					15																	31822993		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31822993G>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.569C>A	15.37:g.31822993G>T	ENSP00000305926:p.Ser190Tyr					OTUD7A_ENST00000307050.4_Missense_Mutation_p.S190Y	p.S190Y			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	4	661	-		all_lung(180;1.6e-09)	190			Catalytic (By similarity).|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.569C>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433298	0.25813	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30981	1.52;1.51	6.06	5.15	0.70609	.	0.053150	0.85682	D	0.000000	T	0.31104	0.0786	N	0.21142	0.635	0.48185	D	0.999606	D;P	0.55605	0.972;0.952	P;B	0.50440	0.641;0.438	T	0.04440	-1.0951	10	0.40728	T	0.16	-29.3876	15.4188	0.74995	0.0664:0.0:0.9336:0.0	.	190;190	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Y	190	ENSP00000305926:S190Y;ENSP00000372358:S190Y	ENSP00000305926:S190Y	S	-	2	0	OTUD7A	29610285	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	8.832000	0.92079	1.579000	0.49836	-0.145000	0.13849	TCC		0.527	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		11	220	1	0	2.80697e-09	1	2.95087e-09	11	220				
DNAH9	1770	broad.mit.edu	37	17	11532779	11532779	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532779G>T	ENST00000262442.4	+	7	1464	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E466*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	466	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGAAAGGTGGAGTTCAGCGG	0.478																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1396-1398)Gag>Tag		dynein, axonemal, heavy chain 9							97.0	95.0	96.0					17																	11532779		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11532779G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1396G>T	17.37:g.11532779G>T	ENSP00000262442:p.Glu466*					DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E466*|DNAH9_ENST00000579406.1_3'UTR	p.E466*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	7	1464	+		Breast(5;0.0122)|all_epithelial(5;0.131)	466			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.1396G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614268	0.87359	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.61	5.61	0.85477	.	0.142017	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000262442:E466X	E	+	1	0	DNAH9	11473504	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	7.748000	0.85085	2.657000	0.90304	0.655000	0.94253	GAG		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		60	342	1	0	7.38948e-41	1	8.96867e-41	60	342				
SFT2D2	375035	broad.mit.edu	37	1	168211761	168211761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168211761G>A	ENST00000271375.4	+	8	538	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					GAAGTGTTTTGCCGTGTGTCT	0.458																																						ENST00000271375.3																			0				lung(3)|skin(1)	4						c.(466-468)Gcc>Acc		SFT2 domain containing 2							361.0	301.0	321.0					1																	168211761		2203	4300	6503	SO:0001583	missense	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168211761G>A	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.466G>A	1.37:g.168211761G>A	ENSP00000271375:p.Ala156Thr					SFT2D2_ENST00000367825.3_3'UTR	p.A156T	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN			8	538	+	all_hematologic(923;0.215)		156						Missense_Mutation	SNP	ENST00000271375.4	37	c.466G>A	CCDS1271.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093188	0.20471	.	.	ENSG00000213064	ENST00000271375	T	0.42131	0.98	4.97	-3.81	0.04294	.	0.154571	0.43747	U	0.000539	T	0.03477	0.0100	N	0.01297	-0.9	0.29400	N	0.8620140000000001	B	0.02656	0.0	B	0.09377	0.004	T	0.36529	-0.9744	9	0.19590	T	0.45	-18.5149	7.1524	0.25618	0.6044:0.0:0.2632:0.1324	.	156	O95562	SFT2B_HUMAN	T	156	ENSP00000271375:A156T	ENSP00000271375:A156T	A	+	1	0	SFT2D2	166478385	0.000000	0.05858	0.004000	0.12327	0.608000	0.37181	-0.525000	0.06214	-0.719000	0.04942	0.650000	0.86243	GCC		0.458	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		147	740	0	0	0	1	0	147	740				
SHQ1	55164	broad.mit.edu	37	3	72890250	72890250	+	Silent	SNP	C	C	T	rs545943497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:72890250C>T	ENST00000325599.8	-	4	571	c.432G>A	c.(430-432)ccG>ccA	p.P144P	SHQ1_ENST00000463369.1_Silent_p.P116P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	144					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AGTGGCACTGCGGATTCAAAG	0.423																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(430-432)ccG>ccA		SHQ1, H/ACA ribonucleoprotein assembly factor							175.0	163.0	167.0					3																	72890250		2203	4300	6503	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72890250C>T	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.432G>A	3.37:g.72890250C>T						SHQ1_ENST00000463369.1_Silent_p.P116P	p.P144P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	4	571	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	144					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.432G>A	CCDS33788.1																																																																																				0.423	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		112	549	0	0	0	1	0	112	549				
OR5AC2	81050	broad.mit.edu	37	3	97806194	97806194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97806194C>T	ENST00000358642.2	+	1	178	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	60					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P60F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTTCATATGCCCATGTACTT	0.433																																						ENST00000358642.2																			1	Substitution - Missense(1)	p.P60F(1)	skin(1)	endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(178-180)Ccc>Tcc		olfactory receptor, family 5, subfamily AC, member 2							297.0	278.0	285.0					3																	97806194		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806194C>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.178C>T	3.37:g.97806194C>T	ENSP00000351466:p.Pro60Ser						p.P60S	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	178	+			60						Missense_Mutation	SNP	ENST00000358642.2	37	c.178C>T	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694621	0.68386	.	.	ENSG00000196578	ENST00000358642	T	0.02015	4.5	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002513	T	0.18593	0.0446	M	0.92412	3.305	0.41357	D	0.987405	D	0.89917	1.0	D	0.97110	1.0	T	0.02333	-1.1175	10	0.72032	D	0.01	-33.5828	16.4072	0.83684	0.0:1.0:0.0:0.0	.	60	Q9NZP5	O5AC2_HUMAN	S	60	ENSP00000351466:P60S	ENSP00000351466:P60S	P	+	1	0	OR5AC2	99288884	1.000000	0.71417	0.946000	0.38457	0.237000	0.25408	5.592000	0.67543	2.470000	0.83445	0.596000	0.82720	CCC		0.433	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			33	1070	0	0	0	1	0	33	1070				
OSMR	9180	broad.mit.edu	37	5	38925342	38925342	+	Missense_Mutation	SNP	C	C	T	rs387906822		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38925342C>T	ENST00000274276.3	+	15	2483	c.2081C>T	c.(2080-2082)cCg>cTg	p.P694L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	694	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L (in PLCA1). {ECO:0000269|PubMed:19690585}.		cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTGACAACCCGGAAGAAAAG	0.358																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2080-2082)cCg>cTg		oncostatin M receptor							113.0	106.0	109.0					5																	38925342		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38925342C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2081C>T	5.37:g.38925342C>T	ENSP00000274276:p.Pro694Leu						p.P694L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			15	2483	+	all_lung(31;0.000365)		694			Fibronectin type-III 4.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2081C>T	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	3.503	-0.101350	0.06967	.	.	ENSG00000145623	ENST00000274276	T	0.53206	0.63	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.532999	0.21392	N	0.075284	T	0.61160	0.2325	L	0.56769	1.78	0.27464	N	0.953066	D	0.89917	1.0	P	0.62298	0.9	T	0.55023	-0.8205	10	0.18276	T	0.48	.	16.693	0.85327	0.0:1.0:0.0:0.0	.	694	Q99650	OSMR_HUMAN	L	694	ENSP00000274276:P694L	ENSP00000274276:P694L	P	+	2	0	OSMR	38961099	0.305000	0.24481	0.071000	0.20095	0.022000	0.10575	3.948000	0.56660	2.732000	0.93576	0.655000	0.94253	CCG		0.358	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		104	418	0	0	0	1	0	104	418				
COL4A1	1282	broad.mit.edu	37	13	110853794	110853794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110853794C>A	ENST00000375820.4	-	19	1196	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	359	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGGGCCTGGCTCTCCT	0.562																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1075-1077)Ggc>Tgc		collagen, type IV, alpha 1							98.0	85.0	90.0					13																	110853794		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110853794C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1075G>T	13.37:g.110853794C>A	ENSP00000364979:p.Gly359Cys					COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	p.G359C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		19	1196	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	359			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1075G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.461247	0.43736	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99369	-5.53;-5.78	3.94	3.94	0.45596	.	0.073296	0.53938	D	0.000048	D	0.99588	0.9851	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97641	1.0148	10	0.87932	D	0	.	15.171	0.72872	0.0:1.0:0.0:0.0	.	359	P02462	CO4A1_HUMAN	C	348;359;359;359	ENSP00000364979:G359C;ENSP00000443348:G359C	ENSP00000364973:G348C	G	-	1	0	COL4A1	109651795	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	5.184000	0.65070	1.926000	0.55796	0.436000	0.28706	GGC		0.562	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			51	178	1	0	6.14515e-18	1	6.80267e-18	51	178				
PTRF	284119	broad.mit.edu	37	17	40557266	40557266	+	Silent	SNP	G	G	A	rs137932986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557266G>A	ENST00000357037.5	-	2	1031	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.D204D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCACCGCCTCGTCCGACGAAA	0.672																																						ENST00000357037.5																			1	Substitution - coding silent(1)	p.D204D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(610-612)gaC>gaT		polymerase I and transcript release factor							83.0	89.0	87.0					17																	40557266		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557266G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.612C>T	17.37:g.40557266G>A							p.D204D	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1031	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	204						Silent	SNP	ENST00000357037.5	37	c.612C>T	CCDS11425.1																																																																																				0.672	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		257	995	0	0	0	1	0	257	995				
IDH3A	3419	broad.mit.edu	37	15	78454048	78454048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78454048G>A	ENST00000299518.2	+	5	498	c.415G>A	c.(415-417)Gat>Aat	p.D139N	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	139					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CCCTTACACCGATGTAAATAT	0.423																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(415-417)Gat>Aat		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						192.0	183.0	186.0					15																	78454048		2196	4293	6489	SO:0001583	missense	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78454048G>A		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.415G>A	15.37:g.78454048G>A	ENSP00000299518:p.Asp139Asn					IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000559205.1_Intron	p.D139N	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			5	498	+			139					D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	c.415G>A	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828324	0.32329	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.54866	0.55;0.55	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.11927	0.2	0.80722	D	1	B;B	0.18013	0.025;0.008	B;B	0.23574	0.047;0.014	T	0.28235	-1.0050	10	0.02654	T	1	-31.065	19.5254	0.95203	0.0:0.0:1.0:0.0	.	104;139	B4DSY4;P50213	.;IDH3A_HUMAN	N	139;30	ENSP00000299518:D139N;ENSP00000387506:D30N	ENSP00000299518:D139N	D	+	1	0	IDH3A	76241103	1.000000	0.71417	0.730000	0.30809	0.862000	0.49288	9.594000	0.98254	2.857000	0.98124	0.650000	0.86243	GAT		0.423	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		164	672	0	0	0	1	0	164	672				
TARBP1	6894	broad.mit.edu	37	1	234529405	234529405	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234529405C>T	ENST00000040877.1	-	27	4421	c.4422G>A	c.(4420-4422)ccG>ccA	p.P1474P	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1474					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAATTGGTCGGTTTGTCGA	0.453																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4420-4422)ccG>ccA		TAR (HIV-1) RNA binding protein 1							70.0	71.0	70.0					1																	234529405		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234529405C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4422G>A	1.37:g.234529405C>T						TARBP1_ENST00000483404.1_5'UTR	p.P1474P	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		27	4421	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1474					Q9H581	Silent	SNP	ENST00000040877.1	37	c.4422G>A	CCDS1601.1																																																																																				0.453	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		109	279	0	0	0	1	0	109	279				
ZNF416	55659	broad.mit.edu	37	19	58083494	58083494	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58083494A>C	ENST00000196489.3	-	4	2000	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAGTTAAACAATGTTAGATCT	0.458																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1777-1779)aTt>aGt		zinc finger protein 416							157.0	151.0	153.0					19																	58083494		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58083494A>C	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1778T>G	19.37:g.58083494A>C	ENSP00000196489:p.Ile593Ser						p.I593S	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	2000	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	593					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1778T>G	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	A	8.822	0.937800	0.18206	.	.	ENSG00000083817	ENST00000196489	T	0.07444	3.19	3.15	-0.543	0.11851	.	.	.	.	.	T	0.06962	0.0177	L	0.39898	1.24	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.35525	-0.9785	9	0.87932	D	0	.	4.7548	0.13078	0.5167:0.3727:0.1106:0.0	.	593	Q9BWM5	ZN416_HUMAN	S	593	ENSP00000196489:I593S	ENSP00000196489:I593S	I	-	2	0	ZNF416	62775306	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.512000	0.35812	-0.348000	0.08286	-0.411000	0.06167	ATT		0.458	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		135	693	0	0	0	1	0	135	693				
PAPPA2	60676	broad.mit.edu	37	1	176738773	176738773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176738773C>T	ENST00000367662.3	+	16	5518	c.4354C>T	c.(4354-4356)Cac>Tac	p.H1452Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1452	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTTCTGGGCACTGGGACCA	0.473																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4354-4356)Cac>Tac		pappalysin 2							124.0	115.0	118.0					1																	176738773		1905	4122	6027	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738773C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4354C>T	1.37:g.176738773C>T	ENSP00000356634:p.His1452Tyr						p.H1452Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			16	5518	+			1452			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4354C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295248	0.40594	.	.	ENSG00000116183	ENST00000367662	T	0.76060	-0.99	6.17	2.18	0.27775	Sushi/SCR/CCP (1);	0.567281	0.20649	N	0.088252	T	0.67887	0.2941	L	0.60455	1.87	0.09310	N	0.999998	B	0.30542	0.284	B	0.33339	0.162	T	0.58891	-0.7556	10	0.44086	T	0.13	-8.2663	8.212	0.31488	0.0:0.6964:0.113:0.1906	.	1452	Q9BXP8	PAPP2_HUMAN	Y	1452	ENSP00000356634:H1452Y	ENSP00000356634:H1452Y	H	+	1	0	PAPPA2	175005396	0.000000	0.05858	0.983000	0.44433	0.960000	0.62799	0.126000	0.15769	0.468000	0.27243	0.655000	0.94253	CAC		0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			45	443	0	0	0	1	0	45	443				
TTLL13P	440307	broad.mit.edu	37	15	90796595	90796595	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90796595T>G	ENST00000561573.1	+	4	677	c.413T>G	c.(412-414)tTt>tGt	p.F138C	TTLL13_ENST00000339615.5_Missense_Mutation_p.F138C|TTLL13_ENST00000438251.1_Missense_Mutation_p.F138C																							ATGAAGAGGTTTCAGGTACCC	0.557																																						ENST00000561573.1																			0											c.(412-414)tTt>tGt									113.0	77.0	89.0					15																	90796595		2199	4298	6497	SO:0001583	missense	0							g.chr15:90796595T>G																												ENST00000561573.1:c.413T>G	15.37:g.90796595T>G	ENSP00000456615:p.Phe138Cys					TTLL13_ENST00000438251.1_Missense_Mutation_p.F138C|TTLL13_ENST00000339615.5_Missense_Mutation_p.F138C	p.F138C							4	677	+									Missense_Mutation	SNP	ENST00000561573.1	37	c.413T>G		.	.	.	.	.	.	.	.	.	.	T	19.11	3.763149	0.69763	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.05447	3.44;3.44	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.31009	0.0783	M	0.90542	3.125	0.51233	D	0.999918	D	0.71674	0.998	D	0.71414	0.973	T	0.24870	-1.0148	10	0.87932	D	0	.	14.6133	0.68531	0.0:0.0:0.0:1.0	.	138	A6NNM8-2	.	C	138	ENSP00000413362:F138C;ENSP00000345294:F138C	ENSP00000345294:F138C	F	+	2	0	TTLL13	88597599	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.644000	0.61397	2.050000	0.60909	0.459000	0.35465	TTT		0.557	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000435855.1			17	67	0	0	0	1	0	17	67				
CCR1	1230	broad.mit.edu	37	3	46244850	46244850	+	Missense_Mutation	SNP	G	G	A	rs181920971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46244850G>A	ENST00000296140.3	-	2	1080	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	319					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGCCACACGCCTGTGGAAC	0.592																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(955-957)Cgt>Tgt		chemokine (C-C motif) receptor 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	80.0	85.0		955	0.2	0.0	3		85	0,8600		0,0,4300	no	missense	CCR1	NM_001295.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	319/356	46244850	1,13005	2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244850G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.955C>T	3.37:g.46244850G>A	ENSP00000296140:p.Arg319Cys					CCR3_ENST00000357422.2_Intron	p.R319C	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1080	-			319					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.955C>T	CCDS2737.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.83	2.055942	0.36277	2.27E-4	0.0	ENSG00000163823	ENST00000296140	T	0.37584	1.19	5.31	0.176	0.15049	.	0.974131	0.08385	N	0.953839	T	0.21801	0.0525	N	0.04994	-0.135	0.09310	N	1	D	0.54207	0.965	P	0.48677	0.586	T	0.09862	-1.0655	10	0.51188	T	0.08	.	3.7884	0.08710	0.1929:0.1125:0.5783:0.1163	.	319	P32246	CCR1_HUMAN	C	319	ENSP00000296140:R319C	ENSP00000296140:R319C	R	-	1	0	CCR1	46219854	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-0.181000	0.09740	-0.185000	0.10550	0.561000	0.74099	CGT		0.592	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		53	203	0	0	0	1	0	53	203				
UPF3B	65109	broad.mit.edu	37	X	118972012	118972012	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118972012G>T	ENST00000276201.2	-	10	1079	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H|UPF3B_ENST00000478840.1_5'Flank	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	337	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTCATCTTCAGGTCTGCATGA	0.473																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(1009-1011)cCt>cAt		UPF3 regulator of nonsense transcripts homolog B (yeast)							101.0	91.0	94.0					X																	118972012		2203	4299	6502	SO:0001583	missense	0				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118972012G>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1010C>A	X.37:g.118972012G>T	ENSP00000276201:p.Pro337His					UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H	p.P337H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			10	1079	-			337			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.1010C>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562328	0.13498	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.77098	-1.06;-1.07	5.68	1.5	0.22942	.	1.350910	0.04170	N	0.324587	T	0.73651	0.3614	L	0.54323	1.7	0.09310	N	1	B;B	0.28584	0.216;0.042	B;B	0.30572	0.117;0.054	T	0.56703	-0.7935	10	0.62326	D	0.03	.	4.7105	0.12870	0.3564:0.0:0.5039:0.1397	.	324;337	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	337;324	ENSP00000276201:P337H;ENSP00000245418:P324H	ENSP00000276201:P337H	P	-	2	0	UPF3B	118856040	0.010000	0.17322	0.005000	0.12908	0.050000	0.14768	0.624000	0.24462	-0.143000	0.11334	-0.212000	0.12691	CCT		0.473	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			64	532	1	0	1.48873e-21	1	1.67879e-21	64	532				
MED12L	116931	broad.mit.edu	37	3	150903146	150903146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150903146G>A	ENST00000474524.1	+	11	1562	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	MED12L_ENST00000309237.4_Silent_p.T508T|MED12L_ENST00000273432.4_Silent_p.T368T|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000422248.2_Silent_p.T508T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	508						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTGGTGACGCTGTTATGTG	0.537																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1522-1524)acG>acA		mediator complex subunit 12-like							131.0	107.0	115.0					3																	150903146		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150903146G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1524G>A	3.37:g.150903146G>A						MED12L_ENST00000422248.2_Silent_p.T508T|MED12L_ENST00000309237.4_Silent_p.T508T|MED12L_ENST00000273432.4_Silent_p.T368T	p.T508T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		11	1562	+			508					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.1524G>A	CCDS33876.1																																																																																				0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		66	284	0	0	0	1	0	66	284				
NFE2L1	4779	broad.mit.edu	37	17	46134725	46134725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46134725G>T	ENST00000362042.3	+	5	1449	c.833G>T	c.(832-834)aGc>aTc	p.S278I	NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	278	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACATTTCCAGCATAACAGAA	0.488																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(832-834)aGc>aTc		nuclear factor, erythroid 2-like 1							167.0	157.0	161.0					17																	46134725		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46134725G>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.833G>T	17.37:g.46134725G>T	ENSP00000354855:p.Ser278Ile					NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I	p.S278I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			5	1449	+			278			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.833G>T	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697822	0.48307	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.20200	2.36;2.09	5.64	4.66	0.58398	.	0.551536	0.22298	N	0.061915	T	0.20861	0.0502	L	0.54323	1.7	0.35028	D	0.758518	B;P;P;B	0.42409	0.002;0.779;0.773;0.0	B;B;B;B	0.37304	0.006;0.125;0.246;0.002	T	0.25398	-1.0133	10	0.44086	T	0.13	-19.977	13.2897	0.60264	0.0778:0.0:0.9222:0.0	.	122;90;248;278	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	I	297;278;248;122	ENSP00000350072:S248I;ENSP00000445811:S122I	ENSP00000350072:S248I	S	+	2	0	NFE2L1	43489724	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.054000	0.30455	2.820000	0.97059	0.650000	0.86243	AGC		0.488	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		119	616	1	0	1.81975e-59	1	2.28519e-59	119	616				
CMYA5	202333	broad.mit.edu	37	5	79031203	79031203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79031203G>A	ENST00000446378.2	+	2	6646	c.6615G>A	c.(6613-6615)caG>caA	p.Q2205Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2205					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAACACAGCCAAGTCCAT	0.393																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6613-6615)caG>caA		cardiomyopathy associated 5							104.0	102.0	103.0					5																	79031203		1887	4113	6000	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79031203G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6615G>A	5.37:g.79031203G>A							p.Q2205Q	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6646	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2205					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.6615G>A	CCDS47238.1																																																																																				0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		124	496	0	0	0	1	0	124	496				
C9orf64	84267	broad.mit.edu	37	9	86559841	86559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86559841C>T	ENST00000376344.3	-	3	877	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	221										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCTTTTCCTTCCAATACACTC	0.398																																						ENST00000376344.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(661-663)Gaa>Aaa		chromosome 9 open reading frame 64							115.0	95.0	102.0					9																	86559841		2203	4300	6503	SO:0001583	missense	84267							g.chr9:86559841C>T	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.661G>A	9.37:g.86559841C>T	ENSP00000365522:p.Glu221Lys					C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	p.E221K	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN			3	877	-			221					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.661G>A	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125138	0.77436	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	5.24	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.31371	0.925	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.14476	-1.0471	9	0.10902	T	0.67	-13.5167	11.5734	0.50848	0.0:0.8551:0.0:0.1449	.	221	Q5T6V5	CI064_HUMAN	K	221;80	.	ENSP00000318375:E80K	E	-	1	0	C9orf64	85749661	1.000000	0.71417	0.077000	0.20336	0.992000	0.81027	7.677000	0.84024	0.715000	0.32103	0.655000	0.94253	GAA		0.398	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		48	248	0	0	0	1	0	48	248				
XPR1	9213	broad.mit.edu	37	1	180849411	180849411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180849411C>T	ENST00000367590.4	+	14	2206	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	670					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CATATCCCTGCGCCGGCCTCG	0.473																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(2008-2010)Cgc>Tgc		xenotropic and polytropic retrovirus receptor 1							132.0	126.0	128.0					1																	180849411		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180849411C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.2008C>T	1.37:g.180849411C>T	ENSP00000356562:p.Arg670Cys					XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	p.R670C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			14	2206	+			670					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.2008C>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272115	0.80469	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48201	0.82	5.56	4.64	0.57946	.	0.047493	0.85682	N	0.000000	T	0.50905	0.1643	L	0.50333	1.59	0.47476	D	0.99943	P;D	0.60160	0.95;0.987	P;B	0.49047	0.599;0.394	T	0.55192	-0.8179	10	0.56958	D	0.05	-2.4789	14.6826	0.69028	0.0:0.9285:0.0:0.0715	.	605;670	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	C	670;605	ENSP00000356562:R670C	ENSP00000356561:R605C	R	+	1	0	XPR1	179116034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.988000	0.49386	1.461000	0.47929	0.591000	0.81541	CGC		0.473	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		95	283	0	0	0	1	0	95	283				
ENPP7	339221	broad.mit.edu	37	17	77709091	77709091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709091C>T	ENST00000328313.5	+	3	870	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGATGGTGCGGCAGGTGGA	0.657																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(649-651)Cgg>Tgg		ectonucleotide pyrophosphatase/phosphodiesterase 7							46.0	46.0	46.0					17																	77709091		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709091C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.649C>T	17.37:g.77709091C>T	ENSP00000332656:p.Arg217Trp						p.R217W	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	870	+			217						Missense_Mutation	SNP	ENST00000328313.5	37	c.649C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456406	0.63401	.	.	ENSG00000182156	ENST00000328313	T	0.74842	-0.88	4.75	-7.62	0.01294	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.834740	0.03017	N	0.150178	T	0.77698	0.4169	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.58970	0.849	T	0.73824	-0.3861	10	0.72032	D	0.01	-3.7225	2.7238	0.05208	0.3744:0.241:0.2928:0.0918	.	217	Q6UWV6	ENPP7_HUMAN	W	217	ENSP00000332656:R217W	ENSP00000332656:R217W	R	+	1	2	ENPP7	75323686	0.000000	0.05858	0.015000	0.15790	0.864000	0.49448	-0.162000	0.10012	-0.936000	0.03723	-0.282000	0.10007	CGG		0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		63	238	0	0	0	1	0	63	238				
TERF2	7014	broad.mit.edu	37	16	69395344	69395344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69395344C>T	ENST00000254942.3	-	8	1405	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	TERF2_ENST00000603068.1_Silent_p.E421E	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	463					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCACCCAAGTCTCCTTTTCTT	0.463																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1387-1389)gaG>gaA		telomeric repeat binding factor 2							214.0	187.0	196.0					16																	69395344		2198	4300	6498	SO:0001819	synonymous_variant	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69395344C>T		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1389G>A	16.37:g.69395344C>T						TERF2_ENST00000603068.1_Silent_p.E421E	p.E463E	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			8	1405	-		Ovarian(137;0.101)	421			HTH myb-type.			Silent	SNP	ENST00000254942.3	37	c.1389G>A																																																																																					0.463	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			90	455	0	0	0	1	0	90	455				
RAI1	10743	broad.mit.edu	37	17	17699003	17699003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17699003G>A	ENST00000353383.1	+	3	3210	c.2741G>A	c.(2740-2742)tGg>tAg	p.W914*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	914					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGGCCGGCTGGGGCTCTCCG	0.647																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2740-2742)tGg>tAg		retinoic acid induced 1							39.0	36.0	37.0					17																	17699003		2203	4300	6503	SO:0001587	stop_gained	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699003G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2741G>A	17.37:g.17699003G>A	ENSP00000323074:p.Trp914*					RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	p.W914*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3210	+			914					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Nonsense_Mutation	SNP	ENST00000353383.1	37	c.2741G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.888434	0.98545	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	.	.	.	4.77	4.77	0.60923	.	0.381141	0.25132	N	0.032885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.0033	0.53243	0.0:0.2341:0.7659:0.0	.	.	.	.	X	914;914;914;914;914;866	.	ENSP00000261641:W914X	W	+	2	0	RAI1	17639728	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.711000	0.54868	2.222000	0.72286	0.313000	0.20887	TGG		0.647	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		42	177	0	0	0	1	0	42	177				
USP35	57558	broad.mit.edu	37	11	77920696	77920696	+	Missense_Mutation	SNP	G	G	A	rs201981807		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77920696G>A	ENST00000529308.1	+	10	2056	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A330T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	599	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTCTCTCTCGCCTTCCCTCC	0.622																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1795-1797)Gcc>Acc		ubiquitin specific peptidase 35							58.0	63.0	61.0					11																	77920696		2039	4189	6228	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77920696G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1795G>A	11.37:g.77920696G>A	ENSP00000431876:p.Ala599Thr					USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A330T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T	p.A599T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2056	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		599						Missense_Mutation	SNP	ENST00000529308.1	37	c.1795G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625284	0.87560	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000014	T	0.18635	0.0447	L	0.41356	1.27	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01105	-1.1450	10	0.87932	D	0	-28.2008	17.4436	0.87572	0.0:0.0:1.0:0.0	.	599;185	Q9P2H5;E7EWV7	UBP35_HUMAN;.	T	167;599;185;330	ENSP00000435468:A167T;ENSP00000431876:A599T;ENSP00000400825:A185T;ENSP00000434942:A330T	ENSP00000400825:A185T	A	+	1	0	USP35	77598344	1.000000	0.71417	0.164000	0.22755	0.950000	0.60333	9.647000	0.98478	2.338000	0.79540	0.461000	0.40582	GCC		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		29	645	0	0	0	1	0	29	645				
ZUFSP	221302	broad.mit.edu	37	6	116968670	116968670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116968670G>T	ENST00000368576.3	-	8	1663	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	474							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACTACCTTTGGACTCCCTTCT	0.338																																						ENST00000368576.3																			0				NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(1420-1422)Cca>Aca		zinc finger with UFM1-specific peptidase domain							123.0	129.0	127.0					6																	116968670		2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116968670G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1420C>A	6.37:g.116968670G>T	ENSP00000357565:p.Pro474Thr						p.P474T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	8	1663	-			474					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.1420C>A	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	4.116	0.019786	0.08006	.	.	ENSG00000153975	ENST00000368576	T	0.28255	1.62	5.28	1.43	0.22495	.	0.488081	0.22018	N	0.065772	T	0.07593	0.0191	L	0.46157	1.445	0.22240	N	0.99927	B	0.21381	0.055	B	0.18263	0.021	T	0.39683	-0.9602	10	0.17832	T	0.49	-3.6716	5.8903	0.18909	0.2433:0.3319:0.4247:0.0	.	474	Q96AP4	ZUFSP_HUMAN	T	474	ENSP00000357565:P474T	ENSP00000357565:P474T	P	-	1	0	ZUFSP	117075363	0.995000	0.38212	0.014000	0.15608	0.352000	0.29268	0.566000	0.23593	-0.026000	0.13895	-0.657000	0.03884	CCA		0.338	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		74	352	1	0	1.07941e-43	1	1.31874e-43	74	352				
SETX	23064	broad.mit.edu	37	9	135203494	135203494	+	Missense_Mutation	SNP	C	C	T	rs369264209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203494C>T	ENST00000224140.5	-	10	3673	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	SETX_ENST00000372169.2_Missense_Mutation_p.R1164Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1164					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTTTCAGATCGTTTTCTCTT	0.393																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3490-3492)cGa>cAa		senataxin		C	GLN/ARG	0,4406		0,0,2203	80.0	78.0	79.0		3491	0.5	0.1	9		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETX	NM_015046.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1164/2678	135203494	1,13005	2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203494C>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3491G>A	9.37:g.135203494C>T	ENSP00000224140:p.Arg1164Gln					SETX_ENST00000224140.5_Missense_Mutation_p.R1164Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q	p.R1164Q			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3673	-		Myeloproliferative disorder(178;0.204)	1164					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3491G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477901	0.26511	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86164	-1.98;-2.08;-1.69	5.9	0.463	0.16700	.	2.512000	0.01833	N	0.034818	T	0.75591	0.3870	N	0.19112	0.55	0.21355	N	0.999712	B;B;B	0.24132	0.098;0.033;0.098	B;B;B	0.12837	0.008;0.003;0.008	T	0.60167	-0.7316	10	0.30078	T	0.28	.	1.5037	0.02482	0.1165:0.3087:0.2136:0.3612	.	1164;1164;1164	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	1164	ENSP00000224140:R1164Q;ENSP00000361242:R1164Q;ENSP00000376913:R1164Q	ENSP00000224140:R1164Q	R	-	2	0	SETX	134193315	0.009000	0.17119	0.148000	0.22405	0.702000	0.40608	0.000000	0.12993	0.070000	0.16634	0.650000	0.86243	CGA		0.393	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		86	381	0	0	0	1	0	86	381				
TRPM1	4308	broad.mit.edu	37	15	31334348	31334348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31334348C>A	ENST00000256552.6	-	17	2040	c.1893G>T	c.(1891-1893)caG>caT	p.Q631H	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.Q648H|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.Q609Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAAGGGATACTGGAACCGAC	0.527																																						ENST00000542188.1																			1	Substitution - coding silent(1)	p.Q609Q(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1942-1944)caG>caT		transient receptor potential cation channel, subfamily M, member 1							68.0	75.0	73.0					15																	31334348		2177	4286	6463	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31334348C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1893G>T	15.37:g.31334348C>A	ENSP00000256552:p.Gln631His					TRPM1_ENST00000256552.6_Missense_Mutation_p.Q631H|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H	p.Q648H	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	16	2257	-		all_lung(180;1.92e-11)	609						Missense_Mutation	SNP	ENST00000256552.6	37	c.1944G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010980	0.35511	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.72505	-0.66;-0.66;-0.66	4.72	2.78	0.32641	.	0.179366	0.50627	D	0.000115	T	0.53916	0.1826	N	0.17474	0.49	0.45464	D	0.998439	B;B	0.14012	0.009;0.005	B;B	0.17433	0.018;0.008	T	0.54840	-0.8233	10	0.72032	D	0.01	-16.7394	11.5534	0.50733	0.0:0.8441:0.0:0.1559	.	603;609	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	609;648;631;609	ENSP00000380897:Q609H;ENSP00000437849:Q648H;ENSP00000256552:Q631H	ENSP00000256552:Q631H	Q	-	3	2	TRPM1	29121640	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.916000	0.28651	1.083000	0.41159	0.655000	0.94253	CAG		0.527	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		10	164	1	0	0.000442599	1	0.000448314	10	164				
TEP1	7011	broad.mit.edu	37	14	20841224	20841224	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841224A>G	ENST00000262715.5	-	48	6937	c.6897T>C	c.(6895-6897)aaT>aaC	p.N2299N	TEP1_ENST00000556935.1_Silent_p.N2191N|TEP1_ENST00000545983.1_Silent_p.N637N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2299					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCCAGCTTGATTTCCAGATA	0.517																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6895-6897)aaT>aaC		telomerase-associated protein 1							77.0	76.0	76.0					14																	20841224		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841224A>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6897T>C	14.37:g.20841224A>G						TEP1_ENST00000545983.1_Silent_p.N637N|TEP1_ENST00000556935.1_Silent_p.N2191N	p.N2299N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	48	6937	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2299					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6897T>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	8.398	0.841223	0.16891	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	2.15	0.27550	.	.	.	.	.	T	0.31389	0.0795	.	.	.	0.27235	N	0.959305	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	-8.6531	5.7984	0.18399	0.6254:0.0:0.3746:0.0	.	.	.	.	P	6	.	.	S	-	1	0	TEP1	19911064	0.199000	0.23386	0.366000	0.25914	0.978000	0.69477	0.583000	0.23849	0.469000	0.27268	-0.250000	0.11733	TCA		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		68	326	0	0	0	1	0	68	326				
KIF26A	26153	broad.mit.edu	37	14	104642801	104642801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104642801G>A	ENST00000423312.2	+	12	3676	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T	KIF26A_ENST00000315264.7_Missense_Mutation_p.A1087T	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1226					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTGGGCTGTGCTCGCCTGGG	0.697																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3259-3261)Gct>Act		kinesin family member 26A							20.0	25.0	23.0					14																	104642801		2020	4160	6180	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642801G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3676G>A	14.37:g.104642801G>A	ENSP00000388241:p.Ala1226Thr					KIF26A_ENST00000423312.2_Missense_Mutation_p.A1226T	p.A1087T			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	3637	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1226					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3259G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204088	0.01581	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.77877	-1.13;-1.12	3.23	-6.45	0.01914	.	.	.	.	.	T	0.59032	0.2164	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33240	-0.9876	9	0.21014	T	0.42	.	4.4235	0.11492	0.2471:0.1681:0.5003:0.0846	.	1226	Q9ULI4	KI26A_HUMAN	T	1226;1087	ENSP00000388241:A1226T;ENSP00000325452:A1087T	ENSP00000325452:A1087T	A	+	1	0	KIF26A	103712554	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.406000	0.21032	-2.983000	0.00282	-1.021000	0.02439	GCT		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			43	166	0	0	0	1	0	43	166				
CDKL4	344387	broad.mit.edu	37	2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39440588C>T	ENST00000395035.3	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000378803.1_Missense_Mutation_p.V106I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(316-318)Gta>Ata		cyclin-dependent kinase-like 4							80.0	88.0	85.0					2																	39440588		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39440588C>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.316G>A	2.37:g.39440588C>T	ENSP00000378476:p.Val106Ile					CDKL4_ENST00000395035.3_Missense_Mutation_p.V106I	p.V106I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			3	315	-		all_hematologic(82;0.248)	106			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.316G>A		.	.	.	.	.	.	.	.	.	.	C	9.681	1.149388	0.21288	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.62639	0.01;0.01	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000418	T	0.37293	0.0998	N	0.03084	-0.415	0.30363	N	0.783641	B;B	0.18610	0.029;0.0	B;B	0.19148	0.024;0.004	T	0.28427	-1.0044	10	0.21540	T	0.41	-6.6072	13.0982	0.59206	0.0:1.0:0.0:0.0	.	106;106	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	106	ENSP00000368080:V106I;ENSP00000378476:V106I	ENSP00000368080:V106I	V	-	1	0	CDKL4	39294092	0.996000	0.38824	0.997000	0.53966	0.984000	0.73092	0.885000	0.28227	2.147000	0.66899	0.561000	0.74099	GTA		0.338	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		29	401	0	0	0	1	0	29	401				
PDP1	54704	broad.mit.edu	37	8	94935883	94935883	+	Silent	SNP	G	G	A	rs535568386	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935883G>A	ENST00000297598.4	+	2	1865	c.1596G>A	c.(1594-1596)gcG>gcA	p.A532A	PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000520728.1_Silent_p.A532A|PDP1_ENST00000396200.3_Silent_p.A557A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	532					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTGTAGGGGCGTATCAAAACC	0.353													G|||	3	0.000599042	0.0	0.0	5008	,	,		22979	0.0		0.0	False		,,,				2504	0.0031					ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(1669-1671)gcG>gcA		pyruvate dehyrogenase phosphatase catalytic subunit 1							76.0	76.0	76.0					8																	94935883		2203	4300	6503	SO:0001819	synonymous_variant	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935883G>A	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1596G>A	8.37:g.94935883G>A						PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000297598.4_Silent_p.A532A|PDP1_ENST00000520728.1_Silent_p.A532A	p.A557A	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1947	+			532					B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	c.1671G>A	CCDS6259.1																																																																																				0.353	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		72	335	0	0	0	1	0	72	335				
BMP7	655	broad.mit.edu	37	20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000395864.3_Missense_Mutation_p.T324M|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1168-1170)aCg>aTg		bone morphogenetic protein 7							105.0	86.0	92.0					20																	55746142		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55746142G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1169C>T	20.37:g.55746142G>A	ENSP00000379204:p.Thr390Met					BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	p.T390M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		7	1674	-	all_lung(29;0.0133)|Melanoma(10;0.242)		390					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.1169C>T	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230581	0.79688	.	.	ENSG00000101144	ENST00000395863;ENST00000395864	D;D	0.84070	-1.8;-1.8	5.21	5.21	0.72293	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.43923	1.385	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.56960	0.81;0.743	D	0.85892	0.1429	10	0.44086	T	0.13	.	18.7685	0.91882	0.0:0.0:1.0:0.0	.	324;390	B1AKZ9;P18075	.;BMP7_HUMAN	M	390;324	ENSP00000379204:T390M;ENSP00000379205:T324M	ENSP00000379204:T390M	T	-	2	0	BMP7	55179549	0.999000	0.42202	0.200000	0.23457	0.965000	0.64279	3.270000	0.51600	2.415000	0.81967	0.655000	0.94253	ACG		0.517	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			48	210	0	0	0	1	0	48	210				
LEPR	3953	broad.mit.edu	37	1	66058449	66058449	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66058449A>C	ENST00000349533.6	+	6	789	c.604A>C	c.(604-606)Aca>Cca	p.T202P	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCTGTGCCAACAGCCAAACT	0.428																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(604-606)Aca>Cca		leptin receptor							148.0	134.0	139.0					1																	66058449		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66058449A>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.604A>C	1.37:g.66058449A>C	ENSP00000330393:p.Thr202Pro					LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P	p.T202P	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	6	789	+			202					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.604A>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343691	0.24339	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55234	0.55;0.55;0.55;0.53;0.55	5.96	-7.16	0.01516	.	1.385230	0.04603	N	0.398819	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	P;P;P	0.43633	0.586;0.709;0.813	B;B;B	0.35073	0.192;0.128;0.195	T	0.15321	-1.0441	10	0.26408	T	0.33	2.5165	7.6606	0.28400	0.1856:0.0891:0.5662:0.1591	.	202;202;202	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	P	202	ENSP00000340884:T202P;ENSP00000330393:T202P;ENSP00000360099:T202P;ENSP00000360098:T202P;ENSP00000360097:T202P	ENSP00000340884:T202P	T	+	1	0	LEPR	65831037	0.000000	0.05858	0.002000	0.10522	0.332000	0.28634	-1.672000	0.01952	-1.482000	0.01860	-0.263000	0.10527	ACA		0.428	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		11	369	0	0	0	1	0	11	369				
TMEM135	65084	broad.mit.edu	37	11	87013442	87013442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87013442G>A	ENST00000305494.5	+	8	695	c.656G>A	c.(655-657)aGa>aAa	p.R219K	TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K|TMEM135_ENST00000340353.7_Missense_Mutation_p.R197K|TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	219					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACCCGGAAGAATGAATATG	0.368																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(589-591)aGa>aAa		transmembrane protein 135							153.0	164.0	160.0					11																	87013442		2201	4299	6500	SO:0001583	missense	65084					integral to membrane		g.chr11:87013442G>A	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.656G>A	11.37:g.87013442G>A	ENSP00000306344:p.Arg219Lys					TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K|TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K|TMEM135_ENST00000305494.5_Missense_Mutation_p.R219K	p.R197K	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			7	792	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	219					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.590G>A	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715959	0.15306	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.43294	0.96;0.96;0.95;0.96	5.55	2.51	0.30379	.	0.651371	0.16326	N	0.219326	T	0.31857	0.0810	L	0.47716	1.5	0.27324	N	0.956958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20907	-1.0261	9	.	.	.	-20.9088	7.203	0.25891	0.1573:0.267:0.5758:0.0	.	197;219	Q86UB9-2;Q86UB9	.;TM135_HUMAN	K	197;56;90;219;80	ENSP00000345513:R197K;ENSP00000436179:R90K;ENSP00000306344:R219K;ENSP00000439525:R80K	.	R	+	2	0	TMEM135	86691090	1.000000	0.71417	0.503000	0.27626	0.079000	0.17450	0.990000	0.29642	0.319000	0.23209	0.655000	0.94253	AGA		0.368	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		115	412	0	0	0	1	0	115	412				
VPS18	57617	broad.mit.edu	37	15	41192523	41192523	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41192523C>A	ENST00000220509.5	+	4	1846	c.1507C>A	c.(1507-1509)Ctt>Att	p.L503I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	503					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGAGCCGGCTTGGGGCTCT	0.607																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1507-1509)Ctt>Att		vacuolar protein sorting 18 homolog (S. cerevisiae)							77.0	86.0	83.0					15																	41192523		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192523C>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1507C>A	15.37:g.41192523C>A	ENSP00000220509:p.Leu503Ile					VPS18_ENST00000558474.1_Intron	p.L503I	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1846	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	503					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1507C>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925968	0.73327	.	.	ENSG00000104142	ENST00000220509	T	0.22539	1.95	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.45470	1.425	0.80722	D	1	P	0.40515	0.719	B	0.37091	0.241	T	0.02781	-1.1111	10	0.19590	T	0.45	-24.7712	19.3228	0.94248	0.0:1.0:0.0:0.0	.	503	Q9P253	VPS18_HUMAN	I	503	ENSP00000220509:L503I	ENSP00000220509:L503I	L	+	1	0	VPS18	38979815	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	6.048000	0.71046	2.633000	0.89246	0.561000	0.74099	CTT		0.607	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			34	941	1	0	1.06801e-11	1	1.14091e-11	34	941				
ITIH6	347365	broad.mit.edu	37	X	54814949	54814949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54814949G>A	ENST00000218436.6	-	5	779	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ITIH6_ENST00000498398.1_5'UTR	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	250					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGACCACATCGTACTGAACCA	0.572																																						ENST00000218436.6																			0											c.(748-750)taC>taT		inter-alpha-trypsin inhibitor heavy chain family, member 6							168.0	100.0	123.0					X																	54814949		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54814949G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.750C>T	X.37:g.54814949G>A						ITIH6_ENST00000498398.1_5'UTR	p.Y250Y	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			5	779	-			250					A6NN03	Silent	SNP	ENST00000218436.6	37	c.750C>T	CCDS14361.1																																																																																				0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		41	202	0	0	0	1	0	41	202				
NFASC	23114	broad.mit.edu	37	1	204948168	204948168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948168C>T	ENST00000401399.1	+	17	2148	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	NFASC_ENST00000339876.6_Missense_Mutation_p.P650L|NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000367172.4_Missense_Mutation_p.P650L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L|NFASC_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L			O94856	NFASC_HUMAN	neurofascin	650	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTGGATCCCCGGGGATGCT	0.642																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(1948-1950)cCc>cTc		neurofascin							23.0	22.0	22.0					1																	204948168		2171	4260	6431	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204948168C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1949C>T	1.37:g.204948168C>T	ENSP00000385637:p.Pro650Leu					NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000401399.1_Missense_Mutation_p.P650L|NFASC_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L|NFASC_ENST00000339876.6_Missense_Mutation_p.P650L	p.P650L			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2277	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		650			Fibronectin type-III 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.1949C>T	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.810159|4.810159	0.90707|0.90707	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.61510|0.61274	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1|0.12	5.31|5.31	5.31|5.31	0.75309|0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.52532|0.52532	D|D	0.000068|0.000068	T|T	0.79411|0.79411	0.4441|0.4441	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|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|.	0.999;1.0;0.997;0.995;0.999;0.999|.	T|T	0.82536|0.82536	-0.0408|-0.0408	10|8	0.87932|0.52906	D|T	0|0.07	.|.	18.583|18.583	0.91178|0.91178	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	650;661;646;635;650;646|.	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.|.	L|S	650;635;650;650;650;650;661;646;646;650;629;650;646;646;637|620	ENSP00000356140:P650L;ENSP00000356139:P635L;ENSP00000356138:P650L;ENSP00000342128:P650L;ENSP00000344786:P650L;ENSP00000343509:P650L;ENSP00000438614:P646L;ENSP00000353154:P646L;ENSP00000356137:P650L;ENSP00000385676:P629L;ENSP00000385637:P650L;ENSP00000384061:P646L;ENSP00000425908:P646L;ENSP00000415031:P637L|ENSP00000356141:P620S	ENSP00000295776:P661L|ENSP00000356141:P620S	P|P	+|+	2|1	0|0	NFASC|NFASC	203214791|203214791	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.576000|0.576000	0.36127|0.36127	7.631000|7.631000	0.83237|0.83237	2.476000|2.476000	0.83614|0.83614	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.642	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		4	14	0	0	0	1	0	4	14				
MYOZ3	91977	broad.mit.edu	37	5	150056304	150056304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150056304G>A	ENST00000297130.4	+	7	822	c.623G>A	c.(622-624)gGc>gAc	p.G208D	MYOZ3_ENST00000520112.1_Silent_p.G124G|MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000456566.2_3'UTR	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGTGGGGGGCACTTTTCCC	0.627																																						ENST00000297130.4																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(622-624)gGc>gAc		myozenin 3							62.0	73.0	69.0					5																	150056304		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150056304G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.623G>A	5.37:g.150056304G>A	ENSP00000297130:p.Gly208Asp					MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000520112.1_Silent_p.G124G	p.G208D	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	822	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	208						Missense_Mutation	SNP	ENST00000297130.4	37	c.623G>A	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255870	0.01457	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.62232	0.04;0.04	5.2	4.05	0.47172	.	0.534254	0.18213	N	0.148114	T	0.30792	0.0776	N	0.03608	-0.345	0.21220	N	0.999752	B	0.02656	0.0	B	0.04013	0.001	T	0.25502	-1.0130	10	0.05959	T	0.93	-13.8802	7.1606	0.25662	0.8949:0.0:0.1051:0.0	.	208	Q8TDC0	MYOZ3_HUMAN	D	208	ENSP00000428815:G208D;ENSP00000297130:G208D	ENSP00000297130:G208D	G	+	2	0	MYOZ3	150036497	0.990000	0.36364	0.404000	0.26397	0.005000	0.04900	2.768000	0.47645	0.832000	0.34804	-0.302000	0.09304	GGC		0.627	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		118	569	0	0	0	1	0	118	569				
GTPBP3	84705	broad.mit.edu	37	19	17448962	17448962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17448962G>T	ENST00000324894.8	+	2	267	c.199G>T	c.(199-201)Gca>Tca	p.A67S	GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	67					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AATTCTCACAGCACCCCGAGA	0.711																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(199-201)Gca>Tca		GTP binding protein 3 (mitochondrial)							13.0	15.0	14.0					19																	17448962		2185	4279	6464	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17448962G>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.199G>T	19.37:g.17448962G>T	ENSP00000313818:p.Ala67Ser					GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S	p.A67S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			2	267	+			67					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.199G>T	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072863	0.36566	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792;ENST00000546035	T;T;T	0.29655	1.56;1.57;1.56	5.61	3.47	0.39725	GTP-binding protein TrmE, N-terminal (2);	0.157689	0.56097	D	0.000040	T	0.30386	0.0763	N	0.16656	0.425	0.28550	N	0.91166	B;B;B;D	0.57899	0.063;0.067;0.12;0.981	B;B;B;P	0.57101	0.032;0.065;0.061;0.813	T	0.07046	-1.0793	10	0.56958	D	0.05	-17.1603	10.3432	0.43891	0.1647:0.0:0.8353:0.0	.	89;67;67;67	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	89;67;67;67	ENSP00000354598:A89S;ENSP00000313818:A67S;ENSP00000351644:A67S	ENSP00000313818:A67S	A	+	1	0	GTPBP3	17309962	1.000000	0.71417	0.620000	0.29132	0.019000	0.09904	2.254000	0.43214	1.371000	0.46172	0.491000	0.48974	GCA		0.711	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		17	88	1	0	1.00905e-13	1	1.09121e-13	17	88				
TMEM186	25880	broad.mit.edu	37	16	8890416	8890416	+	Missense_Mutation	SNP	C	C	T	rs147051924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8890416C>T	ENST00000333050.6	-	2	68	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	12						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						AGCTTTTCCCCGAAACCTACG	0.552																																						ENST00000333050.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(34-36)cGg>cAg		transmembrane protein 186		C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	71.0	75.0	74.0		35	-7.4	0.0	16	dbSNP_134	74	0,8600		0,0,4300	no	missense	TMEM186	NM_015421.3	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	12/214	8890416	1,12993	2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8890416C>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.35G>A	16.37:g.8890416C>T	ENSP00000331640:p.Arg12Gln					PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	p.R12Q	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN			2	68	-			12					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.35G>A	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255064	0.22965	2.28E-4	0.0	ENSG00000184857	ENST00000333050	.	.	.	5.05	-7.42	0.01388	.	1.353990	0.05738	N	0.600896	T	0.07548	0.0190	N	0.00926	-1.1	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.25572	-1.0128	9	0.21540	T	0.41	-7.2867	4.1844	0.10392	0.0928:0.1276:0.2435:0.5362	.	12	Q96B77	TM186_HUMAN	Q	12	.	ENSP00000331640:R12Q	R	-	2	0	TMEM186	8797917	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.672000	0.01952	-0.985000	0.03503	-0.818000	0.03119	CGG		0.552	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		9	373	0	0	0	1	0	9	373				
FEZF1	389549	broad.mit.edu	37	7	121944232	121944232	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944232T>C	ENST00000442488.2	-	1	327	c.260A>G	c.(259-261)aAg>aGg	p.K87R	FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	87					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACTCCTGCCTTGGGGCTCGT	0.687																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(259-261)aAg>aGg		FEZ family zinc finger 1							35.0	32.0	33.0					7																	121944232		2202	4299	6501	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944232T>C	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.260A>G	7.37:g.121944232T>C	ENSP00000411145:p.Lys87Arg					FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R	p.K87R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	327	-			87					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.260A>G	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492179	0.44352	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.11277	2.88;3.0;2.79	4.65	4.65	0.58169	.	0.052252	0.85682	D	0.000000	T	0.11580	0.0282	L	0.47016	1.485	0.36552	D	0.871937	B;B	0.30146	0.176;0.27	B;B	0.25291	0.026;0.059	T	0.10019	-1.0648	10	0.72032	D	0.01	-15.3977	13.6885	0.62531	0.0:0.0:0.0:1.0	.	87;87	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	R	87	ENSP00000411145:K87R;ENSP00000332777:K87R;ENSP00000392727:K87R	ENSP00000332777:K87R	K	-	2	0	FEZF1	121731468	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.049000	0.64244	2.069000	0.61940	0.454000	0.30748	AAG		0.687	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		35	183	0	0	0	1	0	35	183				
MUC5B	727897	broad.mit.edu	37	11	1251768	1251768	+	Missense_Mutation	SNP	G	G	A	rs371537386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251768G>A	ENST00000529681.1	+	12	1466	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G473S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	470	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGGAAGTGCGGCCTGACGGA	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1417-1419)Ggc>Agc		mucin 5B, oligomeric mucus/gel-forming		G	SER/GLY	1,4257		0,1,2128	44.0	53.0	50.0		1408	4.1	0.0	11		50	0,8464		0,0,4232	no	missense	MUC5B	NM_002458.2	56	0,1,6360	AA,AG,GG		0.0,0.0235,0.0079	probably-damaging	470/5763	1251768	1,12721	2129	4232	6361	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1251768G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1408G>A	11.37:g.1251768G>A	ENSP00000436812:p.Gly470Ser					MUC5B_ENST00000529681.1_Missense_Mutation_p.G470S	p.G473S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	12	1475	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	470			VWFD 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.1417G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433412	0.25813	2.35E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.58358	0.34;0.34	4.13	4.13	0.48395	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.73241	0.3562	M	0.83953	2.67	0.40202	D	0.977524	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66716	0.831;0.925;0.946	T	0.80484	-0.1362	9	0.87932	D	0	.	15.9972	0.80260	0.0:0.0:1.0:0.0	.	470;1129;473	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	470;473;471;506	ENSP00000436812:G470S;ENSP00000415793:G473S	ENSP00000343037:G471S	G	+	1	0	MUC5B	1208344	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	6.924000	0.75823	1.851000	0.53745	0.305000	0.20034	GGC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		15	97	0	0	0	1	0	15	97				
FCHSD2	9873	broad.mit.edu	37	11	72578921	72578921	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72578921T>C	ENST00000409418.4	-	13	1680	c.1297A>G	c.(1297-1299)Act>Gct	p.T433A	FCHSD2_ENST00000409314.1_Missense_Mutation_p.T457A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A|RNU6-672P_ENST00000383911.1_RNA	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	433										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGTGTAAAGTGCCATTACTG	0.418																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.(1369-1371)Act>Gct		FCH and double SH3 domains 2							80.0	75.0	77.0					11																	72578921		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72578921T>C	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1297A>G	11.37:g.72578921T>C	ENSP00000386722:p.Thr433Ala					FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000409418.4_Missense_Mutation_p.T433A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A	p.T457A			O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		14	1537	-			433					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1369A>G	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	T	5.766	0.325774	0.10900	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.42131	2.58;2.67;2.69;2.55;0.98	5.78	4.62	0.57501	.	0.957063	0.08803	N	0.891462	T	0.14485	0.0350	N	0.00926	-1.1	0.28941	N	0.890961	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15665	-1.0429	10	0.06625	T	0.88	-17.6345	8.3069	0.32047	0.3462:0.0:0.0:0.6538	.	297;433;377	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	A	377;457;433;297;377	ENSP00000308978:T377A;ENSP00000386987:T457A;ENSP00000386722:T433A;ENSP00000402972:T297A;ENSP00000386314:T377A	ENSP00000308978:T377A	T	-	1	0	FCHSD2	72256569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.518000	0.35877	2.198000	0.70561	0.533000	0.62120	ACT		0.418	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		13	74	0	0	0	1	0	13	74				
CEL	1056	broad.mit.edu	37	9	135940536	135940536	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135940536C>T	ENST00000372080.4	+	4	475	c.459C>T	c.(457-459)atC>atT	p.I153I	CEL_ENST00000351304.7_Silent_p.I150I	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	150					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCGAGGAGATCGCCACACGCG	0.607																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(457-459)atC>atT		carboxyl ester lipase							180.0	194.0	189.0					9																	135940536		2150	4250	6400	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135940536C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.459C>T	9.37:g.135940536C>T						CEL_ENST00000351304.7_Silent_p.I150I	p.I153I	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	4	475	+			150					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.459C>T	CCDS43896.1																																																																																				0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			19	1550	0	0	0	1	0	19	1550				
CHRNA3	1136	broad.mit.edu	37	15	78893874	78893874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893874C>A	ENST00000326828.5	-	5	1494	c.1110G>T	c.(1108-1110)agG>agT	p.R370S	CHRNA3_ENST00000348639.3_Missense_Mutation_p.R370S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	370					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CGTAGAGGGGCCTCGGCTTCT	0.577																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1108-1110)agG>agT		cholinergic receptor, nicotinic, alpha 3 (neuronal)							82.0	76.0	78.0					15																	78893874		2196	4293	6489	SO:0001583	missense	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893874C>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1110G>T	15.37:g.78893874C>A	ENSP00000315602:p.Arg370Ser					CHRNA3_ENST00000348639.3_Missense_Mutation_p.R370S	p.R370S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	1494	-			370					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.1110G>T	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	C	2.181	-0.387565	0.04932	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.70282	-0.47;-0.47	6.02	-2.19	0.07015	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.303789	0.38217	N	0.001774	T	0.55737	0.1939	L	0.37800	1.135	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.12156	0.007;0.007	T	0.41627	-0.9498	10	0.08837	T	0.75	.	17.5498	0.87872	0.0:0.7789:0.0:0.2211	.	370;370	P32297;P32297-3	ACHA3_HUMAN;.	S	370;370;234	ENSP00000267951:R370S;ENSP00000315602:R370S	ENSP00000315602:R370S	R	-	3	2	CHRNA3	76680929	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.062000	0.11674	-0.473000	0.06871	0.655000	0.94253	AGG		0.577	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			85	340	1	0	3.69863e-55	1	4.62091e-55	85	340				
COL11A1	1301	broad.mit.edu	37	1	103345315	103345315	+	Missense_Mutation	SNP	C	C	T	rs140250347	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103345315C>T	ENST00000370096.3	-	66	5510	c.5198G>A	c.(5197-5199)cGc>cAc	p.R1733H	COL11A1_ENST00000358392.2_Missense_Mutation_p.R1745H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1733	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R1745P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCAGGAAGCGAAGTGCTTT	0.433																																						ENST00000358392.2																			1	Substitution - Missense(1)	p.R1745P(1)	stomach(1)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(5233-5235)cGc>cAc		collagen, type XI, alpha 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406	4.2+/-10.8	0,0,2203	167.0	150.0	156.0		4850,5234,5198,5081	5.5	1.0	1	dbSNP_134	156	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	COL11A1	NM_080630.3,NM_080629.2,NM_001854.3,NM_001190709.1	29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign,benign	1617/1691,1745/1819,1733/1807,1694/1768	103345315	3,13003	2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103345315C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5198G>A	1.37:g.103345315C>T	ENSP00000359114:p.Arg1733His					COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1733H	p.R1745H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	66	5551	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1733			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.5234G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325201	0.81580	0.0	3.49E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (4);	0.057950	0.64402	D	0.000002	T	0.66025	0.2748	M	0.64567	1.98	0.58432	D	0.999994	B;B;B;B;B	0.25719	0.132;0.108;0.108;0.132;0.025	B;B;B;B;B	0.22386	0.039;0.023;0.023;0.039;0.011	T	0.65245	-0.6215	10	0.51188	T	0.08	.	19.7856	0.96434	0.0:1.0:0.0:0.0	.	1617;1694;1745;1733;953	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1733;1745;1694;953;1617	ENSP00000359114:R1733H;ENSP00000351163:R1745H;ENSP00000302551:R1694H;ENSP00000426533:R1617H	ENSP00000302551:R1694H	R	-	2	0	COL11A1	103117903	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	6.009000	0.70745	2.747000	0.94245	0.591000	0.81541	CGC		0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		27	341	0	0	0	1	0	27	341				
CPSF7	79869	broad.mit.edu	37	11	61187476	61187476	+	Silent	SNP	G	G	A	rs138161429	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61187476G>A	ENST00000394888.4	-	5	640	c.468C>T	c.(466-468)gaC>gaT	p.D156D	CPSF7_ENST00000340437.4_Silent_p.D199D|CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000541963.1_3'UTR|CPSF7_ENST00000448745.1_Silent_p.D156D	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	156	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCGGCCTCACGTCCACTTTTT	0.532													G|||	4	0.000798722	0.0	0.0	5008	,	,		16378	0.0		0.002	False		,,,				2504	0.002					ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(595-597)gaC>gaT		cleavage and polyadenylation specific factor 7, 59kDa		G	,,	0,4404		0,0,2202	105.0	109.0	107.0		468,468,597	-7.0	0.8	11	dbSNP_134	107	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPSF7	NM_001136040.2,NM_001142565.1,NM_024811.3	,,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,,	156/472,156/463,199/515	61187476	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61187476G>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.468C>T	11.37:g.61187476G>A						CPSF7_ENST00000394888.4_Silent_p.D156D|CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000541963.1_3'UTR|CPSF7_ENST00000448745.1_Silent_p.D156D	p.D199D	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			5	677	-			156					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	37	c.597C>T	CCDS44619.1																																																																																				0.532	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		112	476	0	0	0	1	0	112	476				
DDR1	780	broad.mit.edu	37	6	30865220	30865220	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30865220C>A	ENST00000324771.8	+	17	2610	c.2062C>A	c.(2062-2064)Ctg>Atg	p.L688M	DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000454612.2_Missense_Mutation_p.L651M|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	688	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATTCGGCTGCTGGGCGTGTG	0.537																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(2062-2064)Ctg>Atg		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						106.0	96.0	99.0					6																	30865220		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30865220C>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2062C>A	6.37:g.30865220C>A	ENSP00000318217:p.Leu688Met					DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M|DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000454612.2_Missense_Mutation_p.L651M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M	p.L688M			Q08345	DDR1_HUMAN			17	2610	+			688			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.2062C>A	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.436800|3.436800	0.62955|0.62955	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000484556|ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90563	.|-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.39|5.39	2.66|2.66	0.31614|0.31614	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000005	.|D	.|0.90830	.|0.7120	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.89917	.|1.0;0.995;0.999;0.997;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.976;0.999;0.98;0.999	.|D	.|0.90163	.|0.4229	.|10	.|0.87932	.|D	.|0	.|.	8.9889|8.9889	0.36010|0.36010	0.0:0.7543:0.0:0.2457|0.0:0.7543:0.0:0.2457	.|.	.|669;152;420;694;688	.|B7Z2K0;A2ABL4;A2ABM8;Q08345-5;Q08345	.|.;.;.;.;DDR1_HUMAN	X|M	44|688;651;651;651;694;651;688;688;669;651;694;420;355	.|ENSP00000318217:L688M;ENSP00000407699:L651M;ENSP00000406091:L651M;ENSP00000365753:L651M;ENSP00000365759:L694M;ENSP00000365754:L651M;ENSP00000365752:L688M;ENSP00000405039:L688M;ENSP00000422442:L669M;ENSP00000365751:L651M;ENSP00000427552:L694M;ENSP00000398682:L420M;ENSP00000354844:L355M	.|ENSP00000318217:L688M	C|L	+|+	3|1	2|2	DDR1|DDR1	30973199|30973199	0.998000|0.998000	0.40836|0.40836	0.952000|0.952000	0.39060|0.39060	0.977000|0.977000	0.68977|0.68977	2.640000|2.640000	0.46579|0.46579	0.264000|0.264000	0.21851|0.21851	0.462000|0.462000	0.41574|0.41574	TGC|CTG		0.537	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		86	331	1	0	9.61781e-28	1	1.11524e-27	86	331				
C2	717	broad.mit.edu	37	6	31895572	31895572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31895572C>A	ENST00000299367.5	+	1	319	c.43C>A	c.(43-45)Cca>Aca	p.P15T	CFB_ENST00000456570.1_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.P15T|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T|CFB_ENST00000477310.1_Missense_Mutation_p.P15T	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	15					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GTTCCTGTACCCAGGTAGGAG	0.567																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(43-45)Cca>Aca		complement factor B							199.0	231.0	219.0					6																	31895572		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31895572C>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.43C>A	6.37:g.31895572C>A	ENSP00000299367:p.Pro15Thr					C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T|C2_ENST00000418949.2_Missense_Mutation_p.P15T|CFB_ENST00000477310.1_Missense_Mutation_p.P15T|CFB_ENST00000556679.1_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron	p.P15T			P00751	CFAB_HUMAN			1	98	+			0					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.43C>A	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069252	0.55539	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;T;D;T;T;D;D;D	0.87103	1.47;-1.43;-2.21;1.29;1.3;-1.57;-1.57;-1.55	5.75	2.86	0.33363	.	0.403728	0.18365	N	0.143459	T	0.49983	0.1589	.	.	.	0.80722	D	1	B;B;B;B;B	0.27853	0.0;0.001;0.001;0.0;0.191	B;B;B;B;B	0.29267	0.001;0.002;0.002;0.002;0.1	T	0.54302	-0.8314	9	0.02654	T	1	-0.4943	5.4073	0.16328	0.1386:0.6258:0.1515:0.0841	.	15;15;15;15;15	B4E1Z4;E9PFN7;B4DV20;P06681;Q8N6L6	.;.;.;CO2_HUMAN;.	T	15	ENSP00000403325:P15T;ENSP00000299367:P15T;ENSP00000395683:P15T;ENSP00000391354:P15T;ENSP00000406190:P15T;ENSP00000451848:P15T;ENSP00000410815:P15T;ENSP00000418996:P15T	ENSP00000299367:P15T	P	+	1	0	CFB;C2;XXbac-BPG116M5.17	32003551	0.474000	0.25886	0.999000	0.59377	0.723000	0.41478	0.451000	0.21779	0.804000	0.34136	-0.122000	0.15005	CCA		0.567	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			203	1068	1	0	3.78394e-68	1	4.79673e-68	203	1068				
EPHX3	79852	broad.mit.edu	37	19	15342655	15342655	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342655C>T	ENST00000221730.3	-	2	481	c.261G>A	c.(259-261)ctG>ctA	p.L87L	EPHX3_ENST00000602233.1_Silent_p.L87L|EPHX3_ENST00000435261.1_Silent_p.L87L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	87						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGACATAGTGCAGACGCAGGC	0.667																																						ENST00000221730.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(259-261)ctG>ctA		epoxide hydrolase 3							51.0	53.0	52.0					19																	15342655		2203	4300	6503	SO:0001819	synonymous_variant	79852					extracellular region	hydrolase activity	g.chr19:15342655C>T	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.261G>A	19.37:g.15342655C>T						EPHX3_ENST00000602233.1_Silent_p.L87L|EPHX3_ENST00000435261.1_Silent_p.L87L	p.L87L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN			2	481	-			87					A3KMR3	Silent	SNP	ENST00000221730.3	37	c.261G>A	CCDS12327.1																																																																																				0.667	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		14	351	0	0	0	1	0	14	351				
NINL	22981	broad.mit.edu	37	20	25450686	25450686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25450686G>A	ENST00000278886.6	-	18	3367	c.3294C>T	c.(3292-3294)aaC>aaT	p.N1098N	NINL_ENST00000422516.1_Silent_p.N749N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1098					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCCCAGATCGTTTTTCAACA	0.507											OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3292-3294)aaC>aaT		ninein-like							182.0	179.0	180.0					20																	25450686		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25450686G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3294C>T	20.37:g.25450686G>A			OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	779	NINL_ENST00000422516.1_Silent_p.N749N	p.N1098N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			18	3367	-			1098					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.3294C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173344	0.01646	.	.	ENSG00000101004	ENST00000336104	.	.	.	4.66	-2.02	0.07388	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3007	1.1511	0.01786	0.3569:0.2675:0.2455:0.1301	.	.	.	.	X	51	.	.	R	-	1	2	NINL	25398686	0.220000	0.23631	0.000000	0.03702	0.107000	0.19398	0.042000	0.13949	-0.628000	0.05582	-0.302000	0.09304	CGA		0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		171	703	0	0	0	1	0	171	703				
NOP2	4839	broad.mit.edu	37	12	6670153	6670153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6670153G>A	ENST00000322166.5	-	12	1412	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	NOP2_ENST00000545200.1_Missense_Mutation_p.R427W|NOP2_ENST00000399466.2_Missense_Mutation_p.R427W|NOP2_ENST00000541778.1_Missense_Mutation_p.R427W|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	431					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTCCCAGCCGATGCAAGTTG	0.547																																						ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1279-1281)Cgg>Tgg		NOP2 nucleolar protein							66.0	71.0	69.0					12																	6670153		2123	4231	6354	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6670153G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1291C>T	12.37:g.6670153G>A	ENSP00000313272:p.Arg431Trp					NOP2_ENST00000322166.5_Missense_Mutation_p.R431W|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.R427W|NOP2_ENST00000545200.1_Missense_Mutation_p.R427W|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W	p.R427W			P46087	NOP2_HUMAN			12	1767	-			431					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.1279C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335701	0.81801	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71656	0.929;0.974	D	0.87916	0.2700	10	0.87932	D	0	-25.0293	16.0388	0.80650	0.0:0.0:0.8645:0.1355	.	427;427	Q05BA7;P46087-2	.;.	W	431;464;427;427;431;427	ENSP00000444437:R431W;ENSP00000371858:R464W;ENSP00000439422:R427W;ENSP00000382392:R427W;ENSP00000313272:R431W;ENSP00000443150:R427W	ENSP00000313272:R431W	R	-	1	2	NOP2	6540414	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.498000	0.66931	1.391000	0.46566	-0.181000	0.13052	CGG		0.547	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		38	140	0	0	0	1	0	38	140				
RYR3	6263	broad.mit.edu	37	15	34137128	34137128	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137128C>T	ENST00000389232.4	+	93	13432	c.13362C>T	c.(13360-13362)gaC>gaT	p.D4454D	RYR3_ENST00000415757.3_Silent_p.D4449D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4454					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTAATGACGAGGAAGAGG	0.458																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13360-13362)gaC>gaT		ryanodine receptor 3							130.0	121.0	124.0					15																	34137128		1933	4133	6066	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137128C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13362C>T	15.37:g.34137128C>T						RYR3_ENST00000415757.3_Silent_p.D4449D	p.D4454D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13432	+		all_lung(180;7.18e-09)	4454					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.13362C>T	CCDS45210.1																																																																																				0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			43	172	0	0	0	1	0	43	172				
ZNF777	27153	broad.mit.edu	37	7	149129742	149129742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149129742G>A	ENST00000247930.4	-	6	1944	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	541					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCGCCGCGCCGGTTCCGC	0.657																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1621-1623)Cgc>Tgc		zinc finger protein 777							35.0	37.0	37.0					7																	149129742		2189	4291	6480	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129742G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1621C>T	7.37:g.149129742G>A	ENSP00000247930:p.Arg541Cys						p.R541C	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1944	-	Melanoma(164;0.165)		541					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1621C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289908	0.59976	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05925	3.37	4.59	3.66	0.41972	.	0.143056	0.29293	N	0.012565	T	0.08935	0.0221	L	0.42581	1.335	0.43540	D	0.995839	D	0.60160	0.987	P	0.46825	0.528	T	0.04320	-1.0960	10	0.87932	D	0	-27.4626	11.8466	0.52387	0.0:0.0:0.8254:0.1746	.	541	Q9ULD5-2	.	C	541;284	ENSP00000247930:R541C	ENSP00000247930:R541C	R	-	1	0	ZNF777	148760675	0.020000	0.18652	0.986000	0.45419	0.987000	0.75469	1.327000	0.33746	2.376000	0.81061	0.460000	0.39030	CGC		0.657	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		33	139	0	0	0	1	0	33	139				
CTNND2	1501	broad.mit.edu	37	5	11384997	11384997	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384997G>A	ENST00000304623.8	-	7	1146	c.957C>T	c.(955-957)atC>atT	p.I319I	CTNND2_ENST00000511377.1_Silent_p.I228I|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000495388.2_5'Flank	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	319					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGACACGACGATGTTGATGG	0.716																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(955-957)atC>atT		catenin (cadherin-associated protein), delta 2							68.0	73.0	72.0					5																	11384997		2198	4299	6497	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11384997G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.957C>T	5.37:g.11384997G>A						CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.I228I|CTNND2_ENST00000503622.1_Intron	p.I319I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			7	1146	-			319					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.957C>T	CCDS3881.1																																																																																				0.716	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		24	93	0	0	0	1	0	24	93				
SAMM50	25813	broad.mit.edu	37	22	44364674	44364674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44364674G>A	ENST00000350028.4	+	4	455	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SAMM50_ENST00000396202.3_De_novo_Start_InFrame|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	100					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAGACAAGTGGATGTTTTGAT	0.368																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(298-300)Gat>Aat		SAMM50 sorting and assembly machinery component							114.0	119.0	117.0					22																	44364674		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44364674G>A	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.298G>A	22.37:g.44364674G>A	ENSP00000345445:p.Asp100Asn					SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_De_novo_Start_InFrame	p.D100N	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			4	455	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	100					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.298G>A	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103707	0.37145	.	.	ENSG00000100347	ENST00000350028	T	0.29397	1.57	4.92	4.92	0.64577	.	0.052819	0.85682	D	0.000000	T	0.15609	0.0376	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.08472	-1.0720	10	0.02654	T	1	-35.8104	17.478	0.87666	0.0:0.0:1.0:0.0	.	100	Q9Y512	SAM50_HUMAN	N	100	ENSP00000345445:D100N	ENSP00000345445:D100N	D	+	1	0	SAMM50	42696007	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.813000	0.91963	2.436000	0.82500	0.563000	0.77884	GAT		0.368	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		88	406	0	0	0	1	0	88	406				
CNP	1267	broad.mit.edu	37	17	40125661	40125661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40125661G>A	ENST00000393892.3	+	4	1129	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CNP_ENST00000591072.1_Missense_Mutation_p.A94T|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000393888.1_Missense_Mutation_p.A309T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	329					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGGAGCCGCGCCCACATCAC	0.652																																						ENST00000393892.2																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(985-987)Gcc>Acc		2',3'-cyclic nucleotide 3' phosphodiesterase							33.0	40.0	38.0					17																	40125661		2017	4149	6166	SO:0001583	missense	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40125661G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.985G>A	17.37:g.40125661G>A	ENSP00000377470:p.Ala329Thr					CNP_ENST00000591072.1_Missense_Mutation_p.A94T|CNP_ENST00000393888.1_Missense_Mutation_p.A309T|CNP_ENST00000472031.1_3'UTR	p.A329T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	4	1129	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	329						Missense_Mutation	SNP	ENST00000393892.3	37	c.985G>A	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378658	0.82682	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.58358	0.34;0.34	4.83	4.83	0.62350	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.184155	0.47093	D	0.000259	T	0.71500	0.3347	M	0.69823	2.125	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75105	-0.3435	10	0.87932	D	0	-13.2322	15.8956	0.79333	0.0:0.0:1.0:0.0	.	206;329	B4DI06;P09543	.;CN37_HUMAN	T	329;205;309	ENSP00000377470:A329T;ENSP00000377466:A309T	ENSP00000309643:A205T	A	+	1	0	CNP	37379187	1.000000	0.71417	0.275000	0.24674	0.525000	0.34531	8.737000	0.91562	2.509000	0.84616	0.561000	0.74099	GCC		0.652	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			81	362	0	0	0	1	0	81	362				
DAGLB	221955	broad.mit.edu	37	7	6474563	6474563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6474563G>T	ENST00000297056.6	-	4	677	c.508C>A	c.(508-510)Ccc>Acc	p.P170T	DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T|DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	170					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGGTGGCTGGGGCCGGCAGAG	0.498																																						ENST00000297056.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(508-510)Ccc>Acc		diacylglycerol lipase, beta							103.0	102.0	102.0					7																	6474563		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6474563G>T	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.508C>A	7.37:g.6474563G>T	ENSP00000297056:p.Pro170Thr					DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T|DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Intron	p.P170T	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	4	677	-		Ovarian(82;0.232)	170					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.508C>A	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	5.243	0.230268	0.09969	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	T;T	0.41758	0.99;1.0	5.26	4.3	0.51218	.	0.299368	0.33895	N	0.004445	T	0.26011	0.0634	L	0.33485	1.01	0.18873	N	0.999985	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12430	T	0.62	.	6.8558	0.24040	0.0795:0.1094:0.6567:0.1545	.	170	Q8NCG7	DGLB_HUMAN	T	170;129;170;43	ENSP00000297056:P170T;ENSP00000404785:P129T	ENSP00000297056:P170T	P	-	1	0	DAGLB	6441088	0.299000	0.24426	0.079000	0.20413	0.977000	0.68977	0.768000	0.26590	2.443000	0.82685	0.591000	0.81541	CCC		0.498	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		118	529	1	0	1.09907e-53	1	1.37041e-53	118	529				
ZNF787	126208	broad.mit.edu	37	19	56600160	56600160	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600160G>A	ENST00000270459.3	-	3	499	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		AGCGCTTGCCGCACTCCAAGC	0.672																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(379-381)tgC>tgT		zinc finger protein 787							24.0	25.0	24.0					19																	56600160		2203	4300	6503	SO:0001819	synonymous_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600160G>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.381C>T	19.37:g.56600160G>A							p.C127C	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	499	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	127					O00455	Silent	SNP	ENST00000270459.3	37	c.381C>T	CCDS42634.1																																																																																				0.672	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		27	118	0	0	0	1	0	27	118				
EIF2AK3	9451	broad.mit.edu	37	2	88874373	88874373	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874373C>A	ENST00000303236.3	-	13	2929	c.2628G>T	c.(2626-2628)caG>caT	p.Q876H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	876	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GTGAACTGGGCTGGAGTTTTT	0.408																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2626-2628)caG>caT		eukaryotic translation initiation factor 2-alpha kinase 3							176.0	173.0	174.0					2																	88874373		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874373C>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2628G>T	2.37:g.88874373C>A	ENSP00000307235:p.Gln876His					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	p.Q876H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	2929	-			876			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2628G>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443500	0.43429	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74842	-0.76;-0.7;-0.88	5.56	4.68	0.58851	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.446433	0.24662	N	0.036625	T	0.44871	0.1314	N	0.01576	-0.805	0.41466	D	0.988071	B	0.11235	0.004	B	0.09377	0.004	T	0.37663	-0.9696	10	0.13853	T	0.58	-10.8257	11.0365	0.47804	0.1293:0.8023:0.0:0.0684	.	876	Q9NZJ5	E2AK3_HUMAN	H	725;876;725;755	ENSP00000408325:Q725H;ENSP00000307235:Q876H;ENSP00000412076:Q755H	ENSP00000307235:Q876H	Q	-	3	2	EIF2AK3	88655488	0.967000	0.33354	1.000000	0.80357	0.994000	0.84299	0.032000	0.13732	1.344000	0.45657	0.655000	0.94253	CAG		0.408	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		24	894	1	0	1.64293e-13	1	1.77503e-13	24	894				
CLEC4E	26253	broad.mit.edu	37	12	8691851	8691851	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8691851T>G	ENST00000299663.3	-	3	347	c.182A>C	c.(181-183)gAg>gCg	p.E61A	CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A|CLEC4E_ENST00000446457.2_Missense_Mutation_p.E61A	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	61					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTGAAATTCTCAGGTAGCTG	0.348																																						ENST00000299663.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(181-183)gAg>gCg		C-type lectin domain family 4, member E							134.0	138.0	137.0					12																	8691851		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8691851T>G	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.182A>C	12.37:g.8691851T>G	ENSP00000299663:p.Glu61Ala					CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A|CLEC4E_ENST00000446457.2_Missense_Mutation_p.E61A	p.E61A	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN			3	347	-	Lung SC(5;0.184)		61					B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.182A>C	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942145	0.34283	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.38560	2.34;1.13	3.92	0.128	0.14733	C-type lectin-like (1);	0.754446	0.11791	N	0.529157	T	0.32645	0.0836	L	0.55481	1.735	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.22208	-1.0223	10	0.29301	T	0.29	.	6.2796	0.20999	0.0:0.3235:0.0:0.6765	.	61	Q9ULY5	CLC4E_HUMAN	A	61	ENSP00000299663:E61A;ENSP00000443034:E61A	ENSP00000299663:E61A	E	-	2	0	CLEC4E	8583118	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.342000	0.19926	0.022000	0.15160	-0.250000	0.11733	GAG		0.348	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		111	435	0	0	0	1	0	111	435				
BAAT	570	broad.mit.edu	37	9	104124866	104124866	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104124866G>T	ENST00000395051.3	-	3	1171	c.1101C>A	c.(1099-1101)ccC>ccA	p.P367P	BAAT_ENST00000259407.2_Silent_p.P367P			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	367					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAGGAGAATAGGGAGGTTCTA	0.547																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(1099-1101)ccC>ccA		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						213.0	182.0	193.0					9																	104124866		2203	4300	6503	SO:0001819	synonymous_variant	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104124866G>T	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1101C>A	9.37:g.104124866G>T						BAAT_ENST00000395051.3_Silent_p.P367P	p.P367P	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			4	1209	-		Acute lymphoblastic leukemia(62;0.0559)	367					Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	37	c.1101C>A	CCDS6752.1																																																																																				0.547	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			57	224	1	0	4.17463e-26	1	4.80398e-26	57	224				
OR11G2	390439	broad.mit.edu	37	14	20666258	20666258	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666258C>T	ENST00000357366.3	+	1	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTGTGGGGTCCTATGCTCTG	0.498																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(763-765)tCc>tTc		olfactory receptor, family 11, subfamily G, member 2							200.0	198.0	198.0					14																	20666258		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666258C>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.764C>T	14.37:g.20666258C>T	ENSP00000349930:p.Ser255Phe						p.S255F	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	764	+	all_cancers(95;0.00108)		255					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.764C>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442884	0.63067	.	.	ENSG00000196832	ENST00000357366	T	0.42513	0.97	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.145321	0.31747	N	0.007129	T	0.63271	0.2497	H	0.94808	3.585	0.28100	N	0.931451	P	0.40909	0.732	P	0.47470	0.548	T	0.67945	-0.5539	10	0.87932	D	0	.	12.1995	0.54317	0.1708:0.8292:0.0:0.0	.	255	Q8NGC1	O11G2_HUMAN	F	255	ENSP00000349930:S255F	ENSP00000349930:S255F	S	+	2	0	OR11G2	19736098	1.000000	0.71417	0.925000	0.36789	0.786000	0.44442	7.118000	0.77137	2.565000	0.86533	0.650000	0.86243	TCC		0.498	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			175	881	0	0	0	1	0	175	881				
FANCM	57697	broad.mit.edu	37	14	45636216	45636216	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45636216G>C	ENST00000267430.5	+	11	1937	c.1852G>C	c.(1852-1854)Gtc>Ctc	p.V618L	FANCM_ENST00000556036.1_Missense_Mutation_p.V618L|FANCM_ENST00000542564.2_Missense_Mutation_p.V592L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	618	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAACAGGCAGGTCCTTCATTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1852-1854)Gtc>Ctc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							107.0	120.0	116.0					14																	45636216		2203	4299	6502	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45636216G>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1852G>C	14.37:g.45636216G>C	ENSP00000267430:p.Val618Leu					FANCM_ENST00000542564.2_Missense_Mutation_p.V592L|FANCM_ENST00000556036.1_Missense_Mutation_p.V618L	p.V618L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			11	1937	+			618			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1852G>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	4.353	0.064910	0.08388	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.16897	2.78;2.85;2.86;2.31	5.65	2.81	0.32909	Helicase, C-terminal (1);	0.930262	0.09313	N	0.819360	T	0.11452	0.0279	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.36744	-0.9735	10	0.10902	T	0.67	.	9.4997	0.39011	0.3437:0.0:0.6563:0.0	.	592;618;618	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	L	618;618;592;134	ENSP00000450596:V618L;ENSP00000267430:V618L;ENSP00000442493:V592L;ENSP00000452033:V134L	ENSP00000267430:V618L	V	+	1	0	FANCM	44705966	0.091000	0.21658	0.908000	0.35775	0.971000	0.66376	1.682000	0.37628	0.859000	0.35456	-0.244000	0.11960	GTC		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		118	617	0	0	0	1	0	118	617				
GALT	2592	broad.mit.edu	37	9	34648390	34648390	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34648390C>A	ENST00000378842.3	+	7	666	c.624C>A	c.(622-624)gcC>gcA	p.A208A	GALT_ENST00000450095.2_Silent_p.A99A|GALT_ENST00000556278.1_Silent_p.A123A|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	208					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTCAGCAGGCCTATAAGAGTC	0.572									Galactosemia																													ENST00000378842.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(622-624)gcC>gcA		galactose-1-phosphate uridylyltransferase							86.0	88.0	87.0					9																	34648390		2203	4300	6503	SO:0001819	synonymous_variant	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34648390C>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.624C>A	9.37:g.34648390C>A						GALT_ENST00000450095.2_Silent_p.A99A|GALT_ENST00000556278.1_Silent_p.A123A	p.A208A	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	7	666	+	all_epithelial(49;0.102)		208					B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Silent	SNP	ENST00000378842.3	37	c.624C>A	CCDS6565.1																																																																																				0.572	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		98	400	1	0	1.96202e-32	1	2.31699e-32	98	400				
POLE	5426	broad.mit.edu	37	12	133225890	133225890	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225890A>G	ENST00000320574.5	-	31	4049		c.e31+1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAAGGTCTATACCTGCACAAT	0.652								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.e31+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							29.0	27.0	28.0					12																	133225890		2203	4300	6503	SO:0001630	splice_region_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225890A>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4005+1T>C	12.37:g.133225890A>G						POLE_ENST00000535270.1_Splice_Site		NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	31	4049	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)						Q13533|Q86VH9	Splice_Site	SNP	ENST00000320574.5	37		CCDS9278.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008225	0.75046	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0387	0.80648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131735963	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	7.271000	0.78506	2.188000	0.69820	0.454000	0.30748	.		0.652	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	Intron	33	194	0	0	0	1	0	33	194				
NRAP	4892	broad.mit.edu	37	10	115385861	115385861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115385861A>G	ENST00000359988.3	-	21	2433	c.2189T>C	c.(2188-2190)gTg>gCg	p.V730A	NRAP_ENST00000360478.3_Missense_Mutation_p.V695A|NRAP_ENST00000369358.4_Missense_Mutation_p.V738A|NRAP_ENST00000369360.3_Missense_Mutation_p.V703A	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCTGTCGGTCACGCTGGTGAA	0.577																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2212-2214)gTg>gCg		nebulin-related anchoring protein							105.0	79.0	88.0					10																	115385861		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115385861A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2189T>C	10.37:g.115385861A>G	ENSP00000353078:p.Val730Ala					NRAP_ENST00000360478.3_Missense_Mutation_p.V695A|NRAP_ENST00000359988.3_Missense_Mutation_p.V730A|NRAP_ENST00000369360.3_Missense_Mutation_p.V703A	p.V738A			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	21	2457	-		Colorectal(252;0.0233)|Breast(234;0.188)	730						Missense_Mutation	SNP	ENST00000359988.3	37	c.2213T>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719256	0.89205	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.77486	2.375	0.52501	D	0.999958	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	D;D;D;D	0.85130	0.992;0.997;0.99;0.984	T	0.65928	-0.6049	10	0.62326	D	0.03	.	16.1557	0.81666	1.0:0.0:0.0:0.0	.	410;730;695;730	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	A	738;703;730;695;410	ENSP00000358365:V738A;ENSP00000358367:V703A;ENSP00000353078:V730A;ENSP00000353666:V695A	ENSP00000353078:V730A	V	-	2	0	NRAP	115375851	1.000000	0.71417	0.993000	0.49108	0.788000	0.44548	7.949000	0.87791	2.291000	0.77112	0.533000	0.62120	GTG		0.577	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		19	85	0	0	0	1	0	19	85				
RFX1	5989	broad.mit.edu	37	19	14080831	14080831	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080831G>T	ENST00000254325.4	-	10	1705	c.1471C>A	c.(1471-1473)Ctg>Atg	p.L491M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	491					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGGTTCGCAGGCCCATGAAG	0.647																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1471-1473)Ctg>Atg		regulatory factor X, 1 (influences HLA class II expression)							52.0	51.0	51.0					19																	14080831		2203	4300	6503	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14080831G>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1471C>A	19.37:g.14080831G>T	ENSP00000254325:p.Leu491Met						p.L491M	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		10	1705	-			491						Missense_Mutation	SNP	ENST00000254325.4	37	c.1471C>A	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922568	0.73213	.	.	ENSG00000132005	ENST00000254325	D	0.85556	-2.0	4.89	3.79	0.43588	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.91998	0.7465	M	0.85859	2.78	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.92113	0.5697	10	0.87932	D	0	-21.6286	10.9679	0.47422	0.1032:0.0:0.8968:0.0	.	491	P22670	RFX1_HUMAN	M	491	ENSP00000254325:L491M	ENSP00000254325:L491M	L	-	1	2	RFX1	13941831	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.068000	0.57534	0.929000	0.37192	0.563000	0.77884	CTG		0.647	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		47	230	1	0	8.86878e-18	1	9.80954e-18	47	230				
EYA1	2138	broad.mit.edu	37	8	72184084	72184084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184084G>T	ENST00000340726.3	-	10	1514	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y|EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	292					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CAATCGATCAGAATCTGAATC	0.463																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(874-876)tCt>tAt		eyes absent homolog 1 (Drosophila)							263.0	246.0	252.0					8																	72184084		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184084G>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.875C>A	8.37:g.72184084G>T	ENSP00000342626:p.Ser292Tyr					EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y|EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y	p.S292Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		10	1514	-	Breast(64;0.046)		292					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.875C>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891954	0.91889	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.7	5.7	0.88788	.	0.127359	0.56097	D	0.000031	D	0.86451	0.5936	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.998;0.996;0.996;0.995	D;D;P;D;P	0.75020	0.937;0.985;0.905;0.937;0.834	T	0.80948	-0.1154	10	0.09590	T	0.72	-6.9874	19.8344	0.96650	0.0:0.0:1.0:0.0	.	286;219;259;292;287	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	292;292;260;259;286;258;291;287	ENSP00000373394:S292Y;ENSP00000342626:S292Y;ENSP00000373392:S259Y;ENSP00000303221:S286Y;ENSP00000373393:S258Y;ENSP00000373395:S291Y;ENSP00000410176:S287Y	ENSP00000303221:S286Y	S	-	2	0	EYA1	72346638	1.000000	0.71417	0.921000	0.36526	0.997000	0.91878	9.272000	0.95707	2.696000	0.92011	0.561000	0.74099	TCT		0.463	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		214	989	1	0	1.52386e-66	1	1.92882e-66	214	989				
CFAP61	26074	broad.mit.edu	37	20	20340951	20340951	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20340951T>G	ENST00000245957.5	+	27	3687	c.3611T>G	c.(3610-3612)tTt>tGt	p.F1204C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1204										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AAAAGAGTTTTTGAGGAATCC	0.488											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(3610-3612)tTt>tGt		chromosome 20 open reading frame 26							154.0	158.0	157.0					20																	20340951		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20340951T>G																												ENST00000245957.5:c.3611T>G	20.37:g.20340951T>G	ENSP00000245957:p.Phe1204Cys		OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	740	C20orf26_ENST00000377309.2_3'UTR	p.F1204C	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	27	3687	+			1204					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3611T>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	t	10.46	1.355205	0.24512	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.11385	2.78	5.39	4.27	0.50696	.	0.242001	0.29480	N	0.012021	T	0.19046	0.0457	L	0.40543	1.245	0.34156	D	0.668057	D	0.71674	0.998	P	0.58873	0.847	T	0.17899	-1.0354	10	0.59425	D	0.04	.	11.0362	0.47802	0.1397:0.0:0.0:0.8603	.	1204	Q8NHU2	CT026_HUMAN	C	1144;1170;1204	ENSP00000245957:F1204C	ENSP00000245957:F1204C	F	+	2	0	C20orf26	20288951	0.064000	0.20934	0.085000	0.20634	0.005000	0.04900	0.616000	0.24344	0.961000	0.38030	0.451000	0.29950	TTT		0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			190	742	0	0	0	1	0	190	742				
LCT	3938	broad.mit.edu	37	2	136570077	136570077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136570077C>T	ENST00000264162.2	-	7	2167	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	719	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGGATGAGGTCTGGGGCCACA	0.522																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2155-2157)caG>caA		lactase							96.0	95.0	95.0					2																	136570077		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570077C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2157G>A	2.37:g.136570077C>T							p.Q719Q	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2167	-			719			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.2157G>A	CCDS2178.1																																																																																				0.522	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		39	375	0	0	0	1	0	39	375				
LIMA1	51474	broad.mit.edu	37	12	50616055	50616055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50616055T>C	ENST00000341247.4	-	4	528	c.379A>G	c.(379-381)Aga>Gga	p.R127G	LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000552783.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	127					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGTCTAGATCTGGGGTGGATT	0.507																																						ENST00000341247.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(379-381)Aga>Gga		LIM domain and actin binding 1							216.0	155.0	176.0					12																	50616055		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50616055T>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.379A>G	12.37:g.50616055T>C	ENSP00000340184:p.Arg127Gly					RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G|LIMA1_ENST00000552823.1_5'UTR	p.R127G	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN			4	528	-			127					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.379A>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	3.781	-0.045713	0.07452	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000420992;ENST00000551691	D;T	0.84800	-1.9;-1.16	5.12	-0.174	0.13319	.	0.889113	0.09948	N	0.735058	T	0.78438	0.4283	M	0.62723	1.935	0.21256	N	0.999748	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.002	T	0.61783	-0.6992	10	0.33940	T	0.23	.	2.283	0.04119	0.1209:0.1435:0.366:0.3696	.	136;127	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	G	127;127;46;127	ENSP00000378400:R127G;ENSP00000340184:R127G	ENSP00000340184:R127G	R	-	1	2	LIMA1	48902322	0.055000	0.20627	0.001000	0.08648	0.196000	0.23810	0.210000	0.17455	-0.162000	0.10964	0.533000	0.62120	AGA		0.507	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		93	382	0	0	0	1	0	93	382				
NOTCH4	4855	broad.mit.edu	37	6	32166826	32166826	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32166826A>C	ENST00000375023.3	-	24	4550	c.4412T>G	c.(4411-4413)aTc>aGc	p.I1471S	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1471					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGACGCCGGATGAGCTGGAG	0.682																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(4411-4413)aTc>aGc		notch 4							40.0	50.0	46.0					6																	32166826		1509	2707	4216	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32166826A>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4412T>G	6.37:g.32166826A>C	ENSP00000364163:p.Ile1471Ser						p.I1471S	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			24	4550	-			1471					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4412T>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990101	0.54041	.	.	ENSG00000204301	ENST00000375023	T	0.80480	-1.38	4.9	4.9	0.64082	.	0.363413	0.20249	N	0.096138	T	0.55097	0.1899	N	0.20685	0.6	0.80722	D	1	P;B	0.45715	0.865;0.048	P;B	0.48901	0.594;0.025	T	0.61695	-0.7010	10	0.05721	T	0.95	.	8.9676	0.35885	0.8128:0.1872:0.0:0.0	.	1471;1470	Q99466;B0S882	NOTC4_HUMAN;.	S	1471	ENSP00000364163:I1471S	ENSP00000364163:I1471S	I	-	2	0	NOTCH4	32274804	1.000000	0.71417	0.989000	0.46669	0.748000	0.42578	2.467000	0.45093	2.186000	0.69663	0.454000	0.30748	ATC		0.682	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			27	497	0	0	0	1	0	27	497				
JMJD1C	221037	broad.mit.edu	37	10	64975428	64975428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64975428G>A	ENST00000399262.2	-	6	925	c.707C>T	c.(706-708)tCt>tTt	p.S236F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	236					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGAACCATAGAAGGATCGAC	0.328																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(706-708)tCt>tTt		jumonji domain containing 1C							59.0	52.0	54.0					10																	64975428		1869	4102	5971	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64975428G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.707C>T	10.37:g.64975428G>A	ENSP00000382204:p.Ser236Phe					JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F|JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F	p.S236F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			6	925	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		236					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.707C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793804	0.70452	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.28	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.12178	0.0296	N	0.14661	0.345	0.47245	D	0.999368	B;B	0.23990	0.095;0.067	B;B	0.21917	0.037;0.03	T	0.05937	-1.0855	10	0.46703	T	0.11	-4.9331	15.9854	0.80147	0.0:0.1349:0.8651:0.0	.	236;54	Q15652;A0T124	JHD2C_HUMAN;.	F	236;17;17;54	ENSP00000382204:S236F;ENSP00000384990:S17F;ENSP00000382195:S17F;ENSP00000444682:S54F	ENSP00000382195:S17F	S	-	2	0	JMJD1C	64645434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.218000	0.43458	0.655000	0.94253	TCT		0.328	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		30	126	0	0	0	1	0	30	126				
NDC1	55706	broad.mit.edu	37	1	54254859	54254859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54254859G>A	ENST00000371429.3	-	15	2244	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	NDC1_ENST00000540001.1_Silent_p.G512G|NDC1_ENST00000234725.8_Missense_Mutation_p.A434V|NDC1_ENST00000537333.1_Missense_Mutation_p.A214V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	549					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										CTGAATGGAGGCCTCTGGGTG	0.343																																						ENST00000371429.3																			0											c.(1645-1647)gCc>gTc		NDC1 transmembrane nucleoporin							37.0	39.0	38.0					1																	54254859		2203	4300	6503	SO:0001583	missense	55706							g.chr1:54254859G>A	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1646C>T	1.37:g.54254859G>A	ENSP00000360483:p.Ala549Val					NDC1_ENST00000234725.8_Missense_Mutation_p.A434V|NDC1_ENST00000540001.1_Silent_p.G512G|NDC1_ENST00000537333.1_Missense_Mutation_p.A214V	p.A549V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					15	2244	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.1646C>T	CCDS583.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799515	0.50208	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.54071	0.59;0.59;0.59	4.31	4.31	0.51392	.	0.049077	0.85682	D	0.000000	T	0.48241	0.1489	L	0.43923	1.385	0.80722	D	1	P;P	0.41848	0.763;0.763	B;B	0.41510	0.359;0.359	T	0.46133	-0.9213	10	0.30078	T	0.28	.	16.9311	0.86190	0.0:0.0:1.0:0.0	.	509;549	B4DHA3;Q9BTX1	.;NDC1_HUMAN	V	549;432;214;434	ENSP00000360483:A549V;ENSP00000439947:A214V;ENSP00000234725:A434V	ENSP00000234725:A434V	A	-	2	0	TMEM48	54027447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.190000	0.77755	2.392000	0.81423	0.563000	0.77884	GCC		0.343	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		35	136	0	0	0	1	0	35	136				
PAK2	5062	broad.mit.edu	37	3	196509633	196509633	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196509633C>A	ENST00000327134.3	+	2	438	c.116C>A	c.(115-117)cCt>cAt	p.P39H	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	39					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGTTTGAAACCTTTGCCCTCT	0.473																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(115-117)cCt>cAt		p21 protein (Cdc42/Rac)-activated kinase 2							141.0	148.0	145.0					3																	196509633		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509633C>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.116C>A	3.37:g.196509633C>A	ENSP00000314067:p.Pro39His						p.P39H	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	438	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		39					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.116C>A	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430706	0.83776	.	.	ENSG00000180370	ENST00000327134	T	0.72505	-0.66	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85194	0.1011	10	0.87932	D	0	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	39	Q13177	PAK2_HUMAN	H	39	ENSP00000314067:P39H	ENSP00000314067:P39H	P	+	2	0	PAK2	197994030	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.456000	0.83038	0.655000	0.94253	CCT		0.473	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		50	1081	1	0	2.40579e-17	1	2.65515e-17	50	1081				
CDADC1	81602	broad.mit.edu	37	13	49852631	49852631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49852631C>T	ENST00000251108.6	+	7	1309	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	399							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.A399E(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATCATACATGCGGAACAGAAT	0.353																																						ENST00000251108.6																			1	Substitution - Missense(1)	p.A399E(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(1195-1197)gCg>gTg		cytidine and dCMP deaminase domain containing 1							235.0	205.0	215.0					13																	49852631		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49852631C>T	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1196C>T	13.37:g.49852631C>T	ENSP00000251108:p.Ala399Val					CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	p.A399V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	7	1309	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	399					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.1196C>T	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681073	0.88542	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.74737	-0.87;-0.87	5.62	4.78	0.61160	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	H	0.96333	3.805	0.54753	D	0.999986	D	0.63880	0.993	P	0.58172	0.834	D	0.91630	0.5318	10	0.87932	D	0	-8.5006	13.5488	0.61719	0.0:0.9251:0.0:0.0749	.	399	Q9BWV3	CDAC1_HUMAN	V	399;201	ENSP00000251108:A399V;ENSP00000407226:A201V	ENSP00000251108:A399V	A	+	2	0	CDADC1	48750632	1.000000	0.71417	0.374000	0.26016	0.842000	0.47809	7.101000	0.76997	1.370000	0.46153	0.650000	0.86243	GCG		0.353	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		105	539	0	0	0	1	0	105	539				
TICRR	90381	broad.mit.edu	37	15	90167307	90167307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90167307G>A	ENST00000268138.7	+	20	3871	c.3766G>A	c.(3766-3768)Gcc>Acc	p.A1256T	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.A1255T			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1256	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GAGAGCAGCAGCCTTCATGGG	0.572																																						ENST00000268138.7																			0											c.(3766-3768)Gcc>Acc		TOPBP1-interacting checkpoint and replication regulator							64.0	69.0	68.0					15																	90167307		2200	4299	6499	SO:0001583	missense	90381							g.chr15:90167307G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3766G>A	15.37:g.90167307G>A	ENSP00000268138:p.Ala1256Thr					KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.A1255T	p.A1256T							20	3871	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.3766G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790919	0.50102	.	.	ENSG00000140534	ENST00000268138	T	0.09073	3.02	4.67	3.74	0.42951	.	0.609497	0.14882	N	0.292881	T	0.07593	0.0191	L	0.27053	0.805	0.19300	N	0.999974	P	0.40731	0.728	B	0.43623	0.425	T	0.31194	-0.9952	10	0.27082	T	0.32	-2.3019	7.968	0.30111	0.0:0.2655:0.5219:0.2126	.	1256	Q7Z2Z1	TICRR_HUMAN	T	1256	ENSP00000268138:A1256T	ENSP00000268138:A1256T	A	+	1	0	C15orf42	87968311	0.002000	0.14202	0.241000	0.24154	0.056000	0.15407	0.687000	0.25407	0.915000	0.36847	0.655000	0.94253	GCC		0.572	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		126	524	0	0	0	1	0	126	524				
HOXA3	3200	broad.mit.edu	37	7	27150148	27150148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27150148C>T	ENST00000396352.4	-	2	311	c.112G>A	c.(112-114)Gct>Act	p.A38T	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.A38T	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	38					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCCCAAAGCGGCGGACGCC	0.667																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(112-114)Gct>Act		homeobox A3							20.0	18.0	19.0					7																	27150148		2114	4177	6291	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27150148C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.112G>A	7.37:g.27150148C>T	ENSP00000379640:p.Ala38Thr					HOXA3_ENST00000317201.2_Missense_Mutation_p.A38T|HOXA-AS2_ENST00000518088.1_RNA	p.A38T	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			2	311	-			38					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.112G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	6.951	0.545224	0.13312	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.49	2.64	0.31445	.	0.473046	0.22978	N	0.053349	T	0.20292	0.0488	N	0.14661	0.345	0.22896	N	0.998599	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	10	0.02654	T	1	.	2.7398	0.05250	0.2519:0.4799:0.1226:0.1456	.	38	O43365	HXA3_HUMAN	T	38	ENSP00000379640:A38T;ENSP00000324884:A38T;ENSP00000429426:A38T;ENSP00000430566:A38T	ENSP00000324884:A38T	A	-	1	0	HOXA3	27116673	0.533000	0.26354	0.023000	0.16930	0.672000	0.39443	0.930000	0.28858	0.264000	0.21851	0.462000	0.41574	GCT		0.667	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			29	146	0	0	0	1	0	29	146				
ZNF629	23361	broad.mit.edu	37	16	30794890	30794890	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30794890C>T	ENST00000262525.4	-	3	966	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGTGGGATCGCTGGTGCTTGA	0.642																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(757-759)caG>caA		zinc finger protein 629							97.0	101.0	100.0					16																	30794890		2196	4300	6496	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794890C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.759G>A	16.37:g.30794890C>T							p.Q253Q	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	966	-			253					Q15938	Silent	SNP	ENST00000262525.4	37	c.759G>A	CCDS45463.1																																																																																				0.642	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		86	324	0	0	0	1	0	86	324				
CHDC2	286464	broad.mit.edu	37	X	36083821	36083821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:36083821G>A	ENST00000313548.4	+	2	190	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	2						integral component of membrane (GO:0016021)											CCCATATATGGCAATTCATCT	0.323																																						ENST00000378660.1																			0											c.(4-6)Gca>Aca		calponin homology domain containing 2							76.0	66.0	70.0					X																	36083821		2201	4297	6498	SO:0001583	missense	286464							g.chrX:36083821G>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.4G>A	X.37:g.36083821G>A	ENSP00000324767:p.Ala2Thr					CHDC2_ENST00000313548.4_Missense_Mutation_p.A2T	p.A2T							2	192	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.4G>A	CCDS14238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.071943|2.071943	0.36566|0.36566	.|.	.|.	ENSG00000176034|ENSG00000176034	ENST00000378660;ENST00000313548|ENST00000449698;ENST00000397458	.|.	.|.	.|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.200102|.	0.24818|.	N|.	0.035360|.	T|.	0.38480|.	0.1042|.	N|N	0.19112|0.19112	0.55|0.55	0.24486|0.24486	N|N	0.994329|0.994329	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|.	0.40270|.	-0.9572|.	9|.	0.87932|0.87932	D|D	0|0	-7.1406|-7.1406	14.5859|14.5859	0.68322|0.68322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2|.	Q8N9S7|.	CX059_HUMAN|.	T|X	2|146	.|.	ENSP00000324767:A2T|ENSP00000380599:W146X	A|W	+|+	1|3	0|0	CXorf59|CXorf59	35993742|35993742	1.000000|1.000000	0.71417|0.71417	0.499000|0.499000	0.27577|0.27577	0.457000|0.457000	0.32468|0.32468	4.584000|4.584000	0.60971|0.60971	2.113000|2.113000	0.64589|0.64589	0.600000|0.600000	0.82982|0.82982	GCA|TGG		0.323	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		26	119	0	0	0	1	0	26	119				
ABCB4	5244	broad.mit.edu	37	7	87056075	87056075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87056075G>A	ENST00000265723.4	-	16	2166	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	ABCB4_ENST00000359206.3_Silent_p.T685T|ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T|ABCB4_ENST00000545634.1_Silent_p.T685T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	685					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CAAGTCCATCGGTTTCCACAT	0.353																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2053-2055)acC>acT		ATP-binding cassette, sub-family B (MDR/TAP), member 4							95.0	94.0	94.0					7																	87056075		2202	4300	6502	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87056075G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2055C>T	7.37:g.87056075G>A						ABCB4_ENST00000545634.1_Silent_p.T685T|ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000359206.3_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T	p.T685T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			16	2166	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		685					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.2055C>T	CCDS5606.1																																																																																				0.353	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		76	260	0	0	0	1	0	76	260				
MIER3	166968	broad.mit.edu	37	5	56224611	56224611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56224611G>A	ENST00000381199.3	-	10	917	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000409421.1_Missense_Mutation_p.L240F|MIER3_ENST00000381226.3_Missense_Mutation_p.L308F|MIER3_ENST00000381213.3_Missense_Mutation_p.L302F			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	303	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTCTGTATAAGATGAAAATCT	0.303																																						ENST00000381226.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19						c.(922-924)Ctt>Ttt		mesoderm induction early response 1, family member 3							70.0	71.0	71.0					5																	56224611		2203	4299	6502	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56224611G>A	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.907C>T	5.37:g.56224611G>A	ENSP00000370596:p.Leu303Phe					MIER3_ENST00000381199.3_Missense_Mutation_p.L303F|CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000381213.3_Missense_Mutation_p.L302F|MIER3_ENST00000409421.1_Missense_Mutation_p.L240F	p.L308F			Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	10	937	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	303			SANT.		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.922C>T		.	.	.	.	.	.	.	.	.	.	G	24.8	4.569239	0.86439	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.64	5.64	0.86602	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.110123	0.64402	D	0.000006	T	0.65144	0.2663	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.985	P;D;P	0.67548	0.905;0.952;0.863	T	0.65940	-0.6046	10	0.59425	D	0.04	-10.7073	19.6987	0.96043	0.0:0.0:1.0:0.0	.	303;308;302	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	F	308;302;303;240	ENSP00000370624:L308F;ENSP00000370611:L302F;ENSP00000370596:L303F;ENSP00000386584:L240F	ENSP00000370596:L303F	L	-	1	0	MIER3	56260368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.018000	0.64054	2.647000	0.89833	0.467000	0.42956	CTT		0.303	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		45	225	0	0	0	1	0	45	225				
HELZ2	85441	broad.mit.edu	37	20	62194454	62194454	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62194454C>T	ENST00000467148.1	-	8	5790	c.5721G>A	c.(5719-5721)ccG>ccA	p.P1907P	HELZ2_ENST00000427522.2_Silent_p.P1338P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1907					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGCTGAAGCCCGGTGCCACCG	0.701																																						ENST00000467148.1																			0											c.(5719-5721)ccG>ccA		helicase with zinc finger 2, transcriptional coactivator							7.0	9.0	8.0					20																	62194454		2146	4240	6386	SO:0001819	synonymous_variant	85441							g.chr20:62194454C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5721G>A	20.37:g.62194454C>T						HELZ2_ENST00000427522.2_Silent_p.P1338P	p.P1907P	NM_001037335.2	NP_001032412.2					8	5790	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.5721G>A	CCDS33508.1																																																																																				0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		11	48	0	0	0	1	0	11	48				
CPEB3	22849	broad.mit.edu	37	10	93999697	93999697	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93999697C>A	ENST00000265997.4	-	2	583	c.411G>T	c.(409-411)caG>caT	p.Q137H	CPEB3_ENST00000412050.4_Missense_Mutation_p.Q137H	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	137	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCGGGAAGTTCTGGAAGAGCA	0.662																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(409-411)caG>caT		cytoplasmic polyadenylation element binding protein 3							54.0	47.0	49.0					10																	93999697		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93999697C>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.411G>T	10.37:g.93999697C>A	ENSP00000265997:p.Gln137His					CPEB3_ENST00000265997.4_Missense_Mutation_p.Q137H	p.Q137H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	499	-		Colorectal(252;0.0869)	137			Pro-rich.		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.411G>T	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711382	0.30322	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.51817	0.7;0.69	3.68	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.64830	0.99;0.99;0.994	D;D;D	0.75484	0.969;0.969;0.986	T	0.55192	-0.8179	10	0.72032	D	0.01	-5.7008	10.0365	0.42131	0.0:0.8987:0.0:0.1013	.	137;137;137	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	H	137	ENSP00000398310:Q137H;ENSP00000265997:Q137H	ENSP00000265997:Q137H	Q	-	3	2	CPEB3	93989677	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.637000	0.61346	0.741000	0.32674	0.313000	0.20887	CAG		0.662	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		10	110	1	0	0.000978159	1	0.000988919	10	110				
CCDC8	83987	broad.mit.edu	37	19	46915898	46915898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46915898C>T	ENST00000307522.3	-	1	943	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	57					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctccatgatgcgggccacgtc	0.642																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(169-171)cGc>cAc		coiled-coil domain containing 8							45.0	50.0	48.0					19																	46915898		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915898C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.170G>A	19.37:g.46915898C>T	ENSP00000303158:p.Arg57His						p.R57H	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	943	-			57					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.170G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460660	0.63513	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.14022	2.54	4.42	2.31	0.28768	.	0.000000	0.40908	D	0.000990	T	0.10508	0.0257	M	0.64997	1.995	0.09310	N	0.999998	P	0.51653	0.947	B	0.35813	0.211	T	0.26985	-1.0087	10	0.37606	T	0.19	-7.8103	6.0197	0.19623	0.0:0.7715:0.0:0.2285	.	57	Q9H0W5	CCDC8_HUMAN	H	57	ENSP00000303158:R57H	ENSP00000303158:R57H	R	-	2	0	CCDC8	51607738	0.996000	0.38824	0.406000	0.26421	0.959000	0.62525	1.658000	0.37376	1.164000	0.42652	-0.237000	0.12165	CGC		0.642	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		78	382	0	0	0	1	0	78	382				
ZNF687	57592	broad.mit.edu	37	1	151259046	151259046	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151259046G>T	ENST00000368879.2	+	2	377	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGTCCCGAGCAGTCTGAGG	0.602																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(277-279)gaG>gaT		zinc finger protein 687							53.0	57.0	56.0					1																	151259046		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259046G>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.279G>T	1.37:g.151259046G>T	ENSP00000357874:p.Glu93Asp						p.E93D	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	377	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		93					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.279G>T		.	.	.	.	.	.	.	.	.	.	G	12.01	1.810743	0.32053	.	.	ENSG00000143373	ENST00000443959;ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.01119	5.31;5.31;5.63	4.32	1.17	0.20885	.	0.000000	0.35585	N	0.003114	T	0.00754	0.0025	L	0.39898	1.24	0.30252	N	0.794028	D;D;D	0.61697	0.99;0.984;0.99	D;D;D	0.73380	0.98;0.956;0.98	T	0.42085	-0.9472	10	0.07644	T	0.81	.	4.2579	0.10726	0.3087:0.0:0.5254:0.1658	.	93;93;93	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	D	102;93;93;93	ENSP00000336620:E93D;ENSP00000319829:E93D;ENSP00000357874:E93D	ENSP00000319829:E93D	E	+	3	2	ZNF687	149525670	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	2.986000	0.49370	0.476000	0.27440	0.313000	0.20887	GAG		0.602	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		63	357	1	0	5.73332e-34	1	6.80828e-34	63	357				
CLU	1191	broad.mit.edu	37	8	27462673	27462673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27462673C>T	ENST00000316403.10	-	5	1002	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CLU_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000405140.3_Silent_p.E199E|CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000560366.1_Silent_p.E251E			P10909	CLUS_HUMAN	clusterin	199					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TATCCTGGGGCTCCCGGGTGA	0.607																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(595-597)gaG>gaA		clusterin							88.0	81.0	83.0					8																	27462673		2203	4300	6503	SO:0001819	synonymous_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27462673C>T	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.597G>A	8.37:g.27462673C>T						CLU_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000560366.1_Silent_p.E251E|CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000405140.3_Silent_p.E199E	p.E199E			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	5	1002	-		Ovarian(32;2.61e-05)	199					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	c.597G>A	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.114995	0.06881	.	.	ENSG00000120885	ENST00000522098	.	.	.	4.96	3.02	0.34903	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19516	-1.0303	4	.	.	.	-11.4326	7.7861	0.29093	0.0:0.7189:0.1797:0.1015	.	.	.	.	T	62	.	.	A	-	1	0	CLU	27518590	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.089000	0.15002	1.079000	0.41038	0.563000	0.77884	GCC		0.607	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		27	267	0	0	0	1	0	27	267				
LMBRD2	92255	broad.mit.edu	37	5	36141208	36141208	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36141208C>T	ENST00000296603.4	-	4	831		c.e4+1			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2							integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGTAACTTACCATGTTAAAA	0.313																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e4+1		LMBR1 domain containing 2							66.0	64.0	65.0					5																	36141208		2203	4300	6503	SO:0001630	splice_region_variant	92255					integral to membrane		g.chr5:36141208C>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.368+1G>A	5.37:g.36141208C>T								NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	831	-	all_lung(31;0.000146)							B3KRB6|Q9NTC7	Splice_Site	SNP	ENST00000296603.4	37		CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315342	0.81358	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBRD2	36176965	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.350000	0.79385	2.491000	0.84063	0.650000	0.86243	.		0.313	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	Intron	45	228	0	0	0	1	0	45	228				
SLC17A8	246213	broad.mit.edu	37	12	100797876	100797876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100797876C>T	ENST00000323346.5	+	9	1427	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	372					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TATTGGAGGACAATTGGCTGA	0.408																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1114-1116)Caa>Taa		solute carrier family 17 (vesicular glutamate transporter), member 8							118.0	116.0	117.0					12																	100797876		2203	4300	6503	SO:0001587	stop_gained	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100797876C>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1114C>T	12.37:g.100797876C>T	ENSP00000316909:p.Gln372*					SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*	p.Q372*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			9	1427	+			372					B3KXZ6|B7ZKV4|Q17RQ8	Nonsense_Mutation	SNP	ENST00000323346.5	37	c.1114C>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	37	6.261472	0.97421	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	.	.	.	X	372;322	.	ENSP00000316909:Q372X	Q	+	1	0	SLC17A8	99322007	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.762000	0.85270	2.653000	0.90120	0.557000	0.71058	CAA		0.408	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		67	262	0	0	0	1	0	67	262				
AXDND1	126859	broad.mit.edu	37	1	179503899	179503899	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179503899A>C	ENST00000367618.3	+	25	3220	c.2833A>C	c.(2833-2835)Aag>Cag	p.K945Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	945	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGCAGAGGAGAAGTTTGAAGA	0.348																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2833-2835)Aag>Cag		axonemal dynein light chain domain containing 1							69.0	70.0	70.0					1																	179503899		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179503899A>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2833A>C	1.37:g.179503899A>C	ENSP00000356590:p.Lys945Gln						p.K945Q	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			25	3220	+			945			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2833A>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	9.378	1.072270	0.20147	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.33216	1.42;1.42	4.89	4.89	0.63831	.	0.667620	0.13957	N	0.351140	T	0.28532	0.0706	N	0.24115	0.695	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.47981	0.563;0.563	T	0.03175	-1.1064	10	0.52906	T	0.07	-8.6421	12.2781	0.54749	1.0:0.0:0.0:0.0	.	829;945	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	945;829;805	ENSP00000356590:K945Q;ENSP00000391716:K805Q	ENSP00000353471:K829Q	K	+	1	0	AXDND1	177770522	0.859000	0.29813	0.988000	0.46212	0.610000	0.37248	2.321000	0.43805	2.179000	0.69175	0.482000	0.46254	AAG		0.348	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		79	336	0	0	0	1	0	79	336				
HSD3B7	80270	broad.mit.edu	37	16	30999191	30999191	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999191G>T	ENST00000297679.5	+	7	890	c.797G>T	c.(796-798)aGg>aTg	p.R266M	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	266					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCACCCTACAGGAGCTACGAG	0.632																																						ENST00000297679.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(796-798)aGg>aTg		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							126.0	124.0	125.0					16																	30999191		2197	4299	6496	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999191G>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.797G>T	16.37:g.30999191G>T	ENSP00000297679:p.Arg266Met					HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	p.R266M	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			7	890	+			266					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.797G>T	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066174	0.55539	.	.	ENSG00000099377	ENST00000297679	T	0.62941	-0.01	5.1	5.1	0.69264	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.044917	0.85682	D	0.000000	T	0.30978	0.0782	N	0.00879	-1.12	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.09422	-1.0675	10	0.41790	T	0.15	-25.6465	10.0568	0.42250	0.9187:0.0:0.0813:0.0	.	266	Q9H2F3	3BHS7_HUMAN	M	266	ENSP00000297679:R266M	ENSP00000297679:R266M	R	+	2	0	HSD3B7	30906692	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.505000	0.53356	0.785000	0.33685	-0.254000	0.11334	AGG		0.632	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			47	1268	1	0	2.46105e-21	1	2.77029e-21	47	1268				
TLK2	11011	broad.mit.edu	37	17	60685440	60685440	+	Silent	SNP	A	A	G	rs200531780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685440A>G	ENST00000326270.9	+	22	2344	c.2076A>G	c.(2074-2076)caA>caG	p.Q692Q	TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000346027.5_Silent_p.Q670Q|TLK2_ENST00000343388.7_Silent_p.Q638Q|TLK2_ENST00000582809.1_Silent_p.Q521Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ACATCCTACAAGAGAATACGA	0.398																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1561-1563)caA>caG		tousled-like kinase 2							75.0	76.0	76.0					17																	60685440		2203	4299	6502	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60685440A>G	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2076A>G	17.37:g.60685440A>G						TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000343388.7_Silent_p.Q638Q|TLK2_ENST00000346027.5_Silent_p.Q670Q|TLK2_ENST00000326270.9_Silent_p.Q692Q	p.Q521Q			Q86UE8	TLK2_HUMAN			22	2266	+			692			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1563A>G																																																																																					0.398	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		58	243	0	0	0	1	0	58	243				
BRPF3	27154	broad.mit.edu	37	6	36185695	36185695	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185695C>T	ENST00000357641.6	+	9	3244	c.2991C>T	c.(2989-2991)ggC>ggT	p.G997G	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000339717.7_Splice_Site_p.G727G|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Splice_Site_p.G997G|BRPF3_ENST00000543502.1_Splice_Site_p.G727G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	997					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.G997G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTTGGCAGGCATGACCAACG	0.537																																						ENST00000357641.6																			1	Substitution - coding silent(1)	p.G997G(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.e9-1		bromodomain and PHD finger containing, 3							148.0	122.0	131.0					6																	36185695		2203	4300	6503	SO:0001630	splice_region_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36185695C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2990-1C>T	6.37:g.36185695C>T						BRPF3_ENST00000543502.1_Splice_Site_p.G727_splice|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534400.1_Splice_Site_p.G997_splice|BRPF3_ENST00000339717.7_Splice_Site_p.G727_splice	p.G997_splice	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			9	3244	+			997					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Splice_Site	SNP	ENST00000357641.6	37	c.2989_splice	CCDS34437.1																																																																																				0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	Silent	45	212	0	0	0	1	0	45	212				
ABCA12	26154	broad.mit.edu	37	2	215862523	215862523	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215862523T>G	ENST00000272895.7	-	23	3409	c.3190A>C	c.(3190-3192)Agt>Cgt	p.S1064R	ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1064					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAGAGACACTGGTTAGGAAG	0.363																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3190-3192)Agt>Cgt		ATP-binding cassette, sub-family A (ABC1), member 12							75.0	73.0	74.0					2																	215862523		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215862523T>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3190A>C	2.37:g.215862523T>G	ENSP00000272895:p.Ser1064Arg					ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	p.S1064R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	23	3409	-		Renal(323;0.127)	1064					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3190A>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054625	0.75960	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87256	-2.23;-2.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.962	D	0.93109	0.6515	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1064;746	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	1064;746	ENSP00000272895:S1064R;ENSP00000374312:S746R	ENSP00000272895:S1064R	S	-	1	0	ABCA12	215570768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.596000	0.67570	2.371000	0.80710	0.533000	0.62120	AGT		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		57	268	0	0	0	1	0	57	268				
MCM3AP	8888	broad.mit.edu	37	21	47664864	47664864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47664864G>A	ENST00000397708.1	-	24	5149	c.4895C>T	c.(4894-4896)tCc>tTc	p.S1632F	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1632					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GACAGGCCAGGACAGGTCACA	0.597																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4894-4896)tCc>tTc		minichromosome maintenance complex component 3 associated protein							93.0	79.0	84.0					21																	47664864		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47664864G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4895C>T	21.37:g.47664864G>A	ENSP00000380820:p.Ser1632Phe					MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F|MCM3AP_ENST00000467026.1_5'UTR	p.S1632F			O60318	MCM3A_HUMAN			24	5149	-	Breast(49;0.112)		1632					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4895C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830034	0.50845	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.13538	2.58;2.58	5.45	5.45	0.79879	.	0.052103	0.85682	D	0.000000	T	0.40839	0.1133	M	0.73598	2.24	0.47819	D	0.999521	D;D	0.89917	1.0;1.0	D;D	0.78314	0.986;0.991	T	0.24584	-1.0156	10	0.72032	D	0.01	-24.0304	19.28	0.94050	0.0:0.0:1.0:0.0	.	1632;127	O60318;B3KT88	MCM3A_HUMAN;.	F	1632;1632;127	ENSP00000380820:S1632F;ENSP00000291688:S1632F	ENSP00000291688:S1632F	S	-	2	0	MCM3AP	46489292	1.000000	0.71417	0.999000	0.59377	0.220000	0.24768	5.694000	0.68272	2.545000	0.85829	0.655000	0.94253	TCC		0.597	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		18	163	0	0	0	1	0	18	163				
CTSL3P	392360	broad.mit.edu	37	9	90388080	90388080	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90388080C>T	ENST00000354530.2	+	0	151					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										GGGGAAAGTGCTCCAGGAACC	0.453																																						ENST00000354530.2																			0																				96.0	91.0	93.0					9																	90388080		2203	4300	6503			0							g.chr9:90388080C>T	AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388080C>T								NR_027917.1						0	151	+									RNA	SNP	ENST00000354530.2	37																																																																																						0.453	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917		60	266	0	0	0	1	0	60	266				
FAM175A	84142	broad.mit.edu	37	4	84390190	84390190	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390190T>C	ENST00000321945.7	-	6	699	c.591A>G	c.(589-591)acA>acG	p.T197T	FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.T148T	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	197					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTTACCTGTGTGTTTGTACTG	0.363																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(589-591)acA>acG		family with sequence similarity 175, member A							117.0	122.0	120.0					4																	84390190		2203	4300	6503	SO:0001819	synonymous_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84390190T>C	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.591A>G	4.37:g.84390190T>C						FAM175A_ENST00000506553.1_Silent_p.T148T|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR	p.T197T	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			6	699	-			197					A5JJ07|Q9H8I1|Q9H9N4	Silent	SNP	ENST00000321945.7	37	c.591A>G	CCDS3605.2																																																																																				0.363	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		130	471	0	0	0	1	0	130	471				
EIF2AK2	5610	broad.mit.edu	37	2	37365484	37365484	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37365484C>A	ENST00000233057.4	-	8	938	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	206					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GAGAAGTCACCTTCAGATGAT	0.343																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(616-618)Ggt>Tgt		eukaryotic translation initiation factor 2-alpha kinase 2							115.0	117.0	116.0					2																	37365484		2203	4300	6503	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37365484C>A	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.616G>T	2.37:g.37365484C>A	ENSP00000233057:p.Gly206Cys					EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C	p.G206C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			8	938	-		all_hematologic(82;0.248)	206					A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.616G>T	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161239	0.21538	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.75821	-0.92;-0.92;-0.97	3.68	1.3	0.21679	.	0.813962	0.10845	N	0.627788	T	0.53965	0.1829	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.43392	0.805;0.805;0.805;0.805	B;B;B;B	0.39185	0.293;0.285;0.285;0.198	T	0.46386	-0.9195	10	0.62326	D	0.03	-6.8153	5.5406	0.17036	0.0:0.2286:0.0:0.7714	.	206;206;206;206	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	C	206	ENSP00000233057:G206C;ENSP00000378559:G206C;ENSP00000385014:G206C	ENSP00000233057:G206C	G	-	1	0	EIF2AK2	37218988	0.006000	0.16342	0.009000	0.14445	0.001000	0.01503	0.034000	0.13776	0.267000	0.21916	-0.416000	0.06073	GGT		0.343	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		63	321	1	0	2.73361e-28	1	3.17826e-28	63	321				
DNAH1	25981	broad.mit.edu	37	3	52404631	52404631	+	Missense_Mutation	SNP	C	C	T	rs199569114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52404631C>T	ENST00000420323.2	+	40	6658	c.6397C>T	c.(6397-6399)Ctc>Ttc	p.L2133F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2133					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGCTAAGGCTCAAGATGGA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18773	0.0		0.0	False		,,,				2504	0.0					ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(6397-6399)Ctc>Ttc		dynein, axonemal, heavy chain 1							29.0	31.0	31.0					3																	52404631		1974	4140	6114	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52404631C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6397C>T	3.37:g.52404631C>T	ENSP00000401514:p.Leu2133Phe						p.L2133F	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	40	6658	+			2133					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.6397C>T	CCDS46842.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.69	1.713048	0.30413	.	.	ENSG00000114841	ENST00000420323	T	0.23348	1.91	5.0	-7.62	0.01294	.	2.801390	0.01128	N	0.005936	T	0.16557	0.0398	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.56958	D	0.05	.	1.2459	0.01973	0.2984:0.1958:0.3185:0.1873	.	2133	C9JXH6	.	F	2133	ENSP00000401514:L2133F	ENSP00000401514:L2133F	L	+	1	0	DNAH1	52379671	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.234000	0.09028	-0.885000	0.03971	-1.478000	0.00992	CTC		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		16	87	0	0	0	1	0	16	87				
BRCA1	672	broad.mit.edu	37	17	41246608	41246608	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41246608C>T	ENST00000357654.3	-	10	1058	c.940G>A	c.(940-942)Gca>Aca	p.A314T	BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A18T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	314					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGCTCCTTGCTAAGCCAGGC	0.418			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(52-54)Gca>Aca	Homologous recombination	breast cancer 1, early onset							162.0	150.0	154.0					17																	41246608		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246608C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.940G>A	17.37:g.41246608C>T	ENSP00000350283:p.Ala314Thr	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.A314T	p.A18T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1079	-		Breast(137;0.000717)	314		M -> T (in BC; unknown pathological significance).			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.52G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689207	0.68271	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	D;D;D;D;D;D;D;D;D;D	0.97710	-2.52;-2.64;-2.62;-3.02;-2.53;-2.64;-3.05;-4.5;-3.2;-2.74	4.73	3.75	0.43078	.	0.110360	0.41097	D	0.000942	D	0.97945	0.9324	M	0.88310	2.945	0.32100	N	0.59068	D;D;P;P;P;P	0.53619	0.961;0.961;0.931;0.762;0.864;0.659	P;P;P;P;P;P	0.49332	0.541;0.541;0.566;0.542;0.521;0.607	D	0.98633	1.0672	10	0.66056	D	0.02	.	13.7087	0.62654	0.0:0.8457:0.1543:0.0	.	314;273;314;314;314;314	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	T	314;314;314;314;18;314;267;314;288;18;314	ENSP00000350283:A314T;ENSP00000326002:A314T;ENSP00000246907:A314T;ENSP00000310938:A18T;ENSP00000418960:A314T;ENSP00000418775:A267T;ENSP00000419274:A314T;ENSP00000419988:A288T;ENSP00000418986:A18T;ENSP00000419103:A314T	ENSP00000310938:A18T	A	-	1	0	BRCA1	38500134	0.012000	0.17670	1.000000	0.80357	0.986000	0.74619	0.149000	0.16243	1.338000	0.45544	0.655000	0.94253	GCA		0.418	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		109	524	0	0	0	1	0	109	524				
TDRD1	56165	broad.mit.edu	37	10	115985896	115985896	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115985896C>T	ENST00000369280.1	+	22	3556	c.3096C>T	c.(3094-3096)acC>acT	p.T1032T	TDRD1_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000251864.2_Silent_p.T1032T|TDRD1_ENST00000422662.1_Silent_p.T636T|TDRD1_ENST00000369281.2_Silent_p.T918T			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1032	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACATTGAAACCCTGCCTCTTT	0.443																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3094-3096)acC>acT		tudor domain containing 1							137.0	122.0	127.0					10																	115985896		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115985896C>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3096C>T	10.37:g.115985896C>T						TDRD1_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000422662.1_Silent_p.T636T|TDRD1_ENST00000369280.1_Silent_p.T1032T|TDRD1_ENST00000369281.2_Silent_p.T918T	p.T1032T	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	22	3249	+		Colorectal(252;0.172)|Breast(234;0.188)	1032			Tudor 4.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.3096C>T																																																																																					0.443	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			80	311	0	0	0	1	0	80	311				
CDKN3	1033	broad.mit.edu	37	14	54882622	54882622	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54882622A>G	ENST00000335183.6	+	6	536	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C|CDKN3_ENST00000556102.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C	NM_005192.3	NP_005183.2	Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|stomach(1)	3						TTCAGCTGCTATGGAGGACTT	0.343																																					Pancreas(40;634 1012 9382 49950 52462)	ENST00000556102.2																			0				breast(2)|stomach(1)	3						c.(421-423)tAt>tGt		cyclin-dependent kinase inhibitor 3							148.0	137.0	141.0					14																	54882622		2203	4300	6503	SO:0001583	missense	1033				cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr14:54882622A>G	U02681	CCDS9716.1, CCDS45109.1	14q22	2011-08-25	2008-08-01		ENSG00000100526	ENSG00000100526		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1791	protein-coding gene	gene with protein product	"""kinase associated phosphatase"", ""cyclin-dependent kinase inhibitor"", ""CDK2-associated dual specificity phosphatase"""	123832				8242750, 7698009	Standard	NM_005192		Approved	KAP, CDI1	uc001xap.3	Q16667	OTTHUMG00000140302	ENST00000335183.6:c.422A>G	14.37:g.54882622A>G	ENSP00000335357:p.Tyr141Cys					CDKN3_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C|CDKN3_ENST00000335183.6_Missense_Mutation_p.Y141C|CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C	p.Y141C			Q16667	CDKN3_HUMAN			6	488	+			141						Missense_Mutation	SNP	ENST00000335183.6	37	c.422A>G	CCDS9716.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320151	0.60634	.	.	ENSG00000100526	ENST00000335183;ENST00000442975;ENST00000458126;ENST00000556102;ENST00000439312;ENST00000395577	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.29	5.29	0.74685	Cyclin-dependent kinase inhibitor 3, bac/eukaryotic (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121890	0.56097	D	0.000021	T	0.71358	0.3330	M	0.77103	2.36	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.80764	0.939;0.994	T	0.73307	-0.4024	10	0.48119	T	0.1	-19.5529	13.1044	0.59239	1.0:0.0:0.0:0.0	.	101;141	Q16667-2;Q16667	.;CDKN3_HUMAN	C	141;101;141;141;136;95	ENSP00000335357:Y141C;ENSP00000415333:Y101C;ENSP00000396451:Y141C;ENSP00000450711:Y141C;ENSP00000378944:Y95C	ENSP00000335357:Y141C	Y	+	2	0	CDKN3	53952372	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.969000	0.49232	2.225000	0.72522	0.459000	0.35465	TAT		0.343	CDKN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276893.2			8	503	0	0	0	1	0	8	503				
LOC440040	440040	broad.mit.edu	37	11	49598003	49598003	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49598003T>G	ENST00000527477.1	+	0	607																											ATTCAGAGAGTGGAGGCCATG	0.507																																						ENST00000527477.1																			0																																																			0							g.chr11:49598003T>G																													11.37:g.49598003T>G														0	607	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.507	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			22	128	0	0	0	1	0	22	128				
DTNB	1838	broad.mit.edu	37	2	25650421	25650421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25650421G>T	ENST00000406818.3	-	15	1786	c.1537C>A	c.(1537-1539)Ctg>Atg	p.L513M	DTNB_ENST00000405222.1_Missense_Mutation_p.L483M|DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000407038.3_Missense_Mutation_p.L483M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M|DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000288642.8_Missense_Mutation_p.L513M|AC104699.1_ENST00000352271.6_RNA	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	513						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTCATCAGCTCTTCCAGC	0.562																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1537-1539)Ctg>Atg		dystrobrevin, beta							72.0	78.0	76.0					2																	25650421		2077	4226	6303	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25650421G>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1537C>A	2.37:g.25650421G>T	ENSP00000384084:p.Leu513Met					DTNB_ENST00000288642.8_Missense_Mutation_p.L513M|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000407038.3_Missense_Mutation_p.L483M|AC104699.1_ENST00000352271.6_RNA|DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M|DTNB_ENST00000405222.1_Missense_Mutation_p.L483M	p.L513M	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			15	1786	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		513					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.1537C>A	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013511	0.54468	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T;T;T	0.73152	0.7;0.81;0.54;0.87;0.55;0.7;0.66;0.57;-0.72	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	L	0.61218	1.895	0.53688	D	0.999971	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;0.999;0.997;0.991;0.999;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.988;0.973;0.988;0.998;0.984;0.953;0.953;0.972;0.984;0.978;0.995;0.988;0.999;0.972	D	0.83885	0.0281	10	0.87932	D	0	-13.0937	16.7198	0.85407	0.0693:0.0:0.9307:0.0	.	513;309;456;513;513;513;456;483;483;483;513;513;513;513	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;Q1I0L3;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	M	456;513;513;513;483;483;483;513;309	ENSP00000444463:L456M;ENSP00000384084:L513M;ENSP00000385482:L513M;ENSP00000385193:L513M;ENSP00000384767:L483M;ENSP00000384787:L483M;ENSP00000385784:L483M;ENSP00000288642:L513M;ENSP00000444961:L309M	ENSP00000288642:L513M	L	-	1	2	DTNB	25503925	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.385000	0.66231	0.806000	0.34183	-0.797000	0.03246	CTG		0.562	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		7	309	1	0	1.6384e-10	1	1.73828e-10	7	309				
ZNF382	84911	broad.mit.edu	37	19	37117875	37117875	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37117875A>C	ENST00000292928.2	+	5	1189	c.1076A>C	c.(1075-1077)aAg>aCg	p.K359T	ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.K358T|ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	359	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATTGTGGGAAGTCCTTCCGC	0.478																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1072-1074)aAg>aCg		zinc finger protein 382							77.0	79.0	79.0					19																	37117875		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117875A>C	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1076A>C	19.37:g.37117875A>C	ENSP00000292928:p.Lys359Thr					ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T|ZNF382_ENST00000292928.2_Missense_Mutation_p.K359T|ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T	p.K358T			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2568	+	Esophageal squamous(110;0.198)		359			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1073A>C	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843785	0.71488	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000477	T	0.56108	0.1963	M	0.89534	3.04	0.39365	D	0.965996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.972	T	0.67169	-0.5738	10	0.87932	D	0	.	12.0011	0.53230	1.0:0.0:0.0:0.0	.	358;358;359	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	T	310;359;358;358	ENSP00000389722:K310T;ENSP00000292928:K359T;ENSP00000407593:K358T;ENSP00000410113:K358T	ENSP00000292928:K359T	K	+	2	0	ZNF382	41809715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.683000	0.61679	2.007000	0.58848	0.482000	0.46254	AAG		0.478	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		25	380	0	0	0	1	0	25	380				
ATR	545	broad.mit.edu	37	3	142168272	142168272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142168272C>T	ENST00000350721.4	-	47	8055	c.7934G>A	c.(7933-7935)tGa>tAa	p.*2645*	XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000544157.1_5'Flank|ATR_ENST00000383101.3_Silent_p.*2581*|XRN1_ENST00000392981.2_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	0					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATTTCATTTCACATATATGG	0.313								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7933-7935)tGa>tAa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							75.0	79.0	78.0					3																	142168272		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142168272C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7934G>A	3.37:g.142168272C>T						ATR_ENST00000383101.3_Silent_p.*2581*	p.*2645*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			47	8055	-			0					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.7934G>A	CCDS3124.1																																																																																				0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		61	264	0	0	0	1	0	61	264				
PPP1CB	5500	broad.mit.edu	37	2	29004680	29004680	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29004680G>T	ENST00000395366.2	+	4	764	c.492G>T	c.(490-492)gtG>gtT	p.V164V	PPP1CB_ENST00000296122.6_Silent_p.V164V|PPP1CB_ENST00000358506.2_Silent_p.V164V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	164					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGCCATTGTGGATGAGAAGA	0.318																																						ENST00000395366.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(490-492)gtG>gtT		protein phosphatase 1, catalytic subunit, beta isozyme							104.0	104.0	104.0					2																	29004680		2203	4300	6503	SO:0001819	synonymous_variant	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29004680G>T		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.492G>T	2.37:g.29004680G>T						PPP1CB_ENST00000358506.2_Silent_p.V164V|PPP1CB_ENST00000296122.6_Silent_p.V164V	p.V164V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN			4	764	+	Acute lymphoblastic leukemia(172;0.155)		164					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Silent	SNP	ENST00000395366.2	37	c.492G>T	CCDS33169.1																																																																																				0.318	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			80	332	1	0	4.78148e-37	1	5.73669e-37	80	332				
SNX19	399979	broad.mit.edu	37	11	130748391	130748391	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130748391C>T	ENST00000265909.4	-	11	3474	c.2905G>A	c.(2905-2907)Gtt>Att	p.V969I	SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I|SNX19_ENST00000426933.2_Missense_Mutation_p.V137I|SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	969					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GACTCCTCAACAGAGGCACTG	0.498																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(2905-2907)Gtt>Att		sorting nexin 19							114.0	100.0	104.0					11																	130748391		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130748391C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2905G>A	11.37:g.130748391C>T	ENSP00000265909:p.Val969Ile					SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000426933.2_Missense_Mutation_p.V137I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I	p.V969I	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	11	3474	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	969					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.2905G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323966	0.24080	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.32753	2.9;1.51;1.51;1.44;1.94;1.94;2.27	5.8	3.82	0.43975	.	0.919810	0.09182	N	0.837227	T	0.21468	0.0517	L	0.44542	1.39	0.09310	N	1	B;B	0.23249	0.082;0.049	B;B	0.18561	0.022;0.016	T	0.33471	-0.9867	10	0.13108	T	0.6	-0.3614	3.2157	0.06697	0.1693:0.4034:0.3277:0.0996	.	412;969	F5H5D1;Q92543	.;SNX19_HUMAN	I	969;209;209;137;349;349;412	ENSP00000265909:V969I;ENSP00000433699:V209I;ENSP00000437982:V209I;ENSP00000413345:V137I;ENSP00000435122:V349I;ENSP00000432307:V349I;ENSP00000443480:V412I	ENSP00000265909:V969I	V	-	1	0	SNX19	130253601	0.000000	0.05858	0.066000	0.19879	0.818000	0.46254	-0.194000	0.09559	1.440000	0.47531	0.655000	0.94253	GTT		0.498	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		20	390	0	0	0	1	0	20	390				
PRKAR1B	5575	broad.mit.edu	37	7	720210	720210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:720210C>T	ENST00000406797.1	-	3	505	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	111	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACGTAGGACACGGCGTCCTCC	0.692																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(331-333)Gtg>Atg		protein kinase, cAMP-dependent, regulatory, type I, beta							43.0	40.0	41.0					7																	720210		2203	4300	6503	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:720210C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.331G>A	7.37:g.720210C>T	ENSP00000385749:p.Val111Met					PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M	p.V111M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	3	505	-		Ovarian(82;0.0779)	111			Dimerization and phosphorylation.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.331G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447981	0.43429	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92495	-2.04;-2.04;-2.04;-2.04;-2.04;-3.04;-1.89;-3.05	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);	0.089401	0.44688	U	0.000437	D	0.86969	0.6061	L	0.29908	0.895	0.58432	D	0.999998	P	0.39551	0.678	B	0.33890	0.172	D	0.87960	0.2729	10	0.49607	T	0.09	-21.7663	18.0789	0.89436	0.0:1.0:0.0:0.0	.	111	P31321	KAP1_HUMAN	M	111;111;111;111;111;111;56;111	ENSP00000440449:V111M;ENSP00000444487:V111M;ENSP00000385749:V111M;ENSP00000385349:V111M;ENSP00000353415:V111M;ENSP00000402648:V111M;ENSP00000394633:V56M;ENSP00000406670:V111M	ENSP00000353415:V111M	V	-	1	0	PRKAR1B	686736	1.000000	0.71417	0.850000	0.33497	0.099000	0.18886	7.101000	0.76997	2.271000	0.75665	0.561000	0.74099	GTG		0.692	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			39	180	0	0	0	1	0	39	180				
PCDHGA3	56112	broad.mit.edu	37	5	140724569	140724569	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724569T>C	ENST00000253812.6	+	1	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCACAGGATGGACCAGGTC	0.388																																						ENST00000253812.6																			0				breast(1)	1						c.(967-969)gaT>gaC									71.0	72.0	72.0					5																	140724569		1988	4217	6205	SO:0001819	synonymous_variant	0							g.chr5:140724569T>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.969T>C	5.37:g.140724569T>C						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D323D	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	969	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.969T>C	CCDS47290.1																																																																																				0.388	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		71	272	0	0	0	1	0	71	272				
DNAH17	8632	broad.mit.edu	37	17	76451842	76451842	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76451842G>T	ENST00000585328.1	-	63	10163	c.10039C>A	c.(10039-10041)Ctg>Atg	p.L3347M	DNAH17_ENST00000389840.5_Missense_Mutation_p.L3338M|DNAH17_ENST00000586052.1_Intron	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3338					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCCACACAGCGTGACCCCC	0.532																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(10012-10014)Ctg>Atg		dynein, axonemal, heavy chain 17							89.0	68.0	75.0					17																	76451842		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76451842G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10039C>A	17.37:g.76451842G>T	ENSP00000465516:p.Leu3347Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.L3347M|DNAH17_ENST00000586052.1_Intron	p.L3338M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		63	10136	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.10012C>A		.	.	.	.	.	.	.	.	.	.	G	15.74	2.923168	0.52653	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.81579	-1.51	5.06	3.88	0.44766	.	0.000000	0.47093	D	0.000245	D	0.88340	0.6410	M	0.85197	2.74	0.30684	N	0.752072	D	0.71674	0.998	D	0.69479	0.964	D	0.85895	0.1431	10	0.59425	D	0.04	.	9.4508	0.38725	0.2271:0.0:0.7729:0.0	.	3347	E7EUM8	.	M	3347;3338	ENSP00000374490:L3338M	ENSP00000300671:L3347M	L	-	1	2	DNAH17	73963437	0.791000	0.28800	0.926000	0.36857	0.642000	0.38348	1.082000	0.30803	2.334000	0.79466	0.655000	0.94253	CTG		0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		22	99	1	0	7.92952e-12	1	8.47903e-12	22	99				
NEDD4L	23327	broad.mit.edu	37	18	55998025	55998025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55998025C>T	ENST00000400345.3	+	11	1152	c.869C>T	c.(868-870)gCt>gTt	p.A290V	NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.A169V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	290					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTCGGTCTGGCTCTGCCCCCA	0.552																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(505-507)gCt>gTt		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase							44.0	46.0	46.0					18																	55998025		1879	4100	5979	SO:0001583	missense	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55998025C>T	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.869C>T	18.37:g.55998025C>T	ENSP00000383199:p.Ala290Val					NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.A290V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V	p.A169V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			11	1106	+			290					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.506C>T	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300116	0.23650	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.33654	1.43;1.4;1.42;1.42;1.9;1.92;1.83;1.9;1.9;1.92	5.58	2.31	0.28768	.	1.280920	0.05285	N	0.520104	T	0.26919	0.0659	N	0.22421	0.69	0.25577	N	0.986832	B;B;B;B;B;B;B	0.18968	0.0;0.002;0.006;0.0;0.0;0.001;0.032	B;B;B;B;B;B;B	0.22152	0.001;0.006;0.009;0.001;0.002;0.002;0.038	T	0.26503	-1.0101	10	0.29301	T	0.29	.	8.0142	0.30372	0.1315:0.7125:0.0:0.1561	.	290;282;282;169;290;290;290	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	V	290;290;290;290;169;169;282;169;169;169	ENSP00000383199:A290V;ENSP00000372301:A290V;ENSP00000348847:A290V;ENSP00000256830:A290V;ENSP00000256832:A169V;ENSP00000411947:A169V;ENSP00000350569:A282V;ENSP00000393395:A169V;ENSP00000405440:A169V;ENSP00000389406:A169V	ENSP00000256830:A290V	A	+	2	0	NEDD4L	54149005	0.697000	0.27767	0.035000	0.18076	0.251000	0.25915	1.091000	0.30915	0.689000	0.31550	0.655000	0.94253	GCT		0.552	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			25	126	0	0	0	1	0	25	126				
FANCB	2187	broad.mit.edu	37	X	14883249	14883249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14883249A>G	ENST00000324138.3	-	2	537	c.384T>C	c.(382-384)taT>taC	p.Y128Y	FANCB_ENST00000398334.1_Silent_p.Y128Y	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	128					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CCTTCATCTCATAGCCTAGTT	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(382-384)taT>taC	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							42.0	41.0	41.0					X																	14883249		2203	4299	6502	SO:0001819	synonymous_variant	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883249A>G	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.384T>C	X.37:g.14883249A>G						FANCB_ENST00000324138.3_Silent_p.Y128Y	p.Y128Y	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			3	651	-	Hepatocellular(33;0.183)		128					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.384T>C	CCDS14161.1																																																																																				0.308	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		66	156	0	0	0	1	0	66	156				
OAS3	4940	broad.mit.edu	37	12	113407771	113407771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113407771C>A	ENST00000228928.7	+	16	3436	c.3257C>A	c.(3256-3258)gCt>gAt	p.A1086D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1086					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCCAGGCTGCTGTGTGAAGT	0.502																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(3256-3258)gCt>gAt		2'-5'-oligoadenylate synthetase 3, 100kDa							54.0	55.0	55.0					12																	113407771		1951	4141	6092	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113407771C>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3257C>A	12.37:g.113407771C>A	ENSP00000228928:p.Ala1086Asp					RP1-71H24.1_ENST00000552784.1_RNA	p.A1086D	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			16	3436	+			1086					Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.3257C>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160159	0.21454	.	.	ENSG00000111331	ENST00000228928;ENST00000323881;ENST00000549918	T	0.08282	3.11	2.58	2.58	0.30949	-oligoadenylate synthetase 1, domain 2/C-terminal (1);-5&apos (1);2&apos (1);	.	.	.	.	T	0.09555	0.0235	M	0.64080	1.96	0.32173	N	0.581369	P	0.34587	0.458	B	0.31614	0.133	T	0.05037	-1.0910	9	0.44086	T	0.13	.	8.7834	0.34804	0.0:1.0:0.0:0.0	.	1086	Q9Y6K5	OAS3_HUMAN	D	1086;1085;65	ENSP00000228928:A1086D	ENSP00000228928:A1086D	A	+	2	0	OAS3	111892154	0.017000	0.18338	0.779000	0.31741	0.071000	0.16799	0.341000	0.19909	1.768000	0.52137	0.557000	0.71058	GCT		0.502	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			10	46	1	0	0.00621372	1	0.0062537	10	46				
EIF2AK4	440275	broad.mit.edu	37	15	40269004	40269004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40269004C>T	ENST00000263791.5	+	12	2251	c.2208C>T	c.(2206-2208)gaC>gaT	p.D736D	EIF2AK4_ENST00000382727.2_Silent_p.D736D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	736	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACGAGGACGACGACGAGGACG	0.657																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2206-2208)gaC>gaT		eukaryotic translation initiation factor 2 alpha kinase 4							48.0	52.0	51.0					15																	40269004		1792	3889	5681	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40269004C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2208C>T	15.37:g.40269004C>T						EIF2AK4_ENST00000382727.2_Silent_p.D736D	p.D736D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	12	2251	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	736			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.2208C>T	CCDS42016.1																																																																																				0.657	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			84	601	0	0	0	1	0	84	601				
SULT1B1	27284	broad.mit.edu	37	4	70599155	70599155	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70599155A>C	ENST00000310613.3	-	6	870	c.573T>G	c.(571-573)ttT>ttG	p.F191L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	191					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CATAGTACAAAAAAAGTATTG	0.343																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(571-573)ttT>ttG		sulfotransferase family, cytosolic, 1B, member 1							182.0	199.0	193.0					4																	70599155		2202	4300	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70599155A>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.573T>G	4.37:g.70599155A>C	ENSP00000308770:p.Phe191Leu						p.F191L	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			6	870	-			191					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.573T>G	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353006	0.61293	.	.	ENSG00000173597	ENST00000310613	D	0.82344	-1.6	4.42	0.613	0.17597	Sulfotransferase domain (1);	0.436101	0.19435	N	0.114331	D	0.83198	0.5202	M	0.80422	2.495	0.26873	N	0.967719	P	0.49696	0.927	P	0.46796	0.527	T	0.75947	-0.3138	10	0.62326	D	0.03	.	8.0085	0.30340	0.4717:0.0:0.5283:0.0	.	191	O43704	ST1B1_HUMAN	L	191	ENSP00000308770:F191L	ENSP00000308770:F191L	F	-	3	2	SULT1B1	70633744	1.000000	0.71417	0.476000	0.27291	0.794000	0.44872	2.399000	0.44495	0.111000	0.17947	-0.696000	0.03686	TTT		0.343	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		15	746	0	0	0	1	0	15	746				
PLEC	5339	broad.mit.edu	37	8	144991705	144991705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991705G>A	ENST00000322810.4	-	32	12864	c.12695C>T	c.(12694-12696)aCg>aTg	p.T4232M	PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M|PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4232	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTTCTCCTCCGTGTTAGGGTC	0.607																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12694-12696)aCg>aTg		plectin							60.0	66.0	64.0					8																	144991705		2095	4207	6302	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991705G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12695C>T	8.37:g.144991705G>A	ENSP00000323856:p.Thr4232Met					PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M	p.T4232M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12864	-			4232			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12695C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034364	0.35893	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000005	D	0.90896	0.7139	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.92048	0.5646	10	0.87932	D	0	.	18.4072	0.90539	0.0:0.0:1.0:0.0	.	4122;4081;4073;4232;4063;4095;4099;4095	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	4095;4099;4095;4063;4232;4073;4081;4122;4118	ENSP00000344848:T4095M;ENSP00000350277:T4099M;ENSP00000346602:T4095M;ENSP00000381756:T4063M;ENSP00000323856:T4232M;ENSP00000347044:T4073M;ENSP00000348702:T4081M;ENSP00000388180:T4122M;ENSP00000434583:T4118M	ENSP00000323856:T4232M	T	-	2	0	PLEC	145063693	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.595000	0.98260	2.679000	0.91253	0.549000	0.68633	ACG		0.607	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		96	419	0	0	0	1	0	96	419				
TRBC2	28638	broad.mit.edu	37	7	142499034	142499034	+	RNA	SNP	C	C	T	rs549814570	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142499034C>T	ENST00000466254.1	+	0	310							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											TACGGGCTCTCGGAGAATGAC	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		34277	0.001		0.001	False		,,,				2504	0.0					ENST00000466254.1																			0																																																			0							g.chr7:142499034C>T	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499034C>T														0	310	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.632	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		60	594	0	0	0	1	0	60	594				
SIPA1	6494	broad.mit.edu	37	11	65408968	65408968	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408968G>A	ENST00000394224.3	+	2	872	c.576G>A	c.(574-576)gcG>gcA	p.A192A	SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000527525.1_Silent_p.A192A|SIPA1_ENST00000534313.1_Silent_p.A192A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	192					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCCAACGCGGCCGTGTCCA	0.637																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(574-576)gcG>gcA		signal-induced proliferation-associated 1							37.0	37.0	37.0					11																	65408968		2201	4296	6497	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408968G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.576G>A	11.37:g.65408968G>A						SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000534313.1_Silent_p.A192A|SIPA1_ENST00000527525.1_Silent_p.A192A	p.A192A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	872	+			192					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.576G>A	CCDS8108.1																																																																																				0.637	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		54	214	0	0	0	1	0	54	214				
LEMD2	221496	broad.mit.edu	37	6	33746091	33746091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33746091G>A	ENST00000293760.5	-	6	1103	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	362					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						ACACCCATGCGGGGGTGGGCA	0.587																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1084-1086)Cgc>Tgc		LEM domain containing 2							104.0	100.0	101.0					6																	33746091		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33746091G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1084C>T	6.37:g.33746091G>A	ENSP00000293760:p.Arg362Cys					LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C	p.R362C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			6	1103	-			362					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1084C>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.891482|3.891482	0.72524|0.72524	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|Inner nuclear membrane protein MAN1 (1);	.|0.215049	.|0.33327	.|N	.|0.005036	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.47716|0.47716	1.5|1.5	0.44539|0.44539	D|D	0.997496|0.997496	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.73380	.|0.98;0.877	T|T	0.69562|0.69562	-0.5112|-0.5112	6|9	0.87932|0.51188	D|T	0|0.08	-5.1228|-5.1228	15.8448|15.8448	0.78879|0.78879	0.0:0.0:0.8631:0.1369|0.0:0.0:0.8631:0.1369	.|.	.|362;323	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	L|C	9|362;60	.|.	ENSP00000421112:P9L|ENSP00000293760:R362C	P|R	-|-	2|1	0|0	LEMD2|LEMD2	33854069|33854069	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.978000|0.978000	0.69477|0.69477	4.571000|4.571000	0.60879|0.60879	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.587	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		108	405	0	0	0	1	0	108	405				
SSRP1	6749	broad.mit.edu	37	11	57102123	57102123	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57102123C>T	ENST00000278412.2	-	3	321		c.e3-1			NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1						DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GACCATCATTCTGTAAGAAAA	0.502																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.e3-1		structure specific recognition protein 1							128.0	120.0	122.0					11																	57102123		2201	4296	6497	SO:0001630	splice_region_variant	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57102123C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.55-1G>A	11.37:g.57102123C>T								NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			3	321	-								Q5BJG8	Splice_Site	SNP	ENST00000278412.2	37		CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909000	0.72868	.	.	ENSG00000149136	ENST00000278412	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.09	0.97815	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSRP1	56858699	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.216000	0.77974	2.848000	0.98002	0.655000	0.94253	.		0.502	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146	Intron	88	429	0	0	0	1	0	88	429				
JAG2	3714	broad.mit.edu	37	14	105613723	105613723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105613723C>T	ENST00000331782.3	-	20	2822	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	807	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGTTGACGCCGTCAACACAG	0.667																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(2419-2421)Ggc>Agc		jagged 2							32.0	27.0	28.0					14																	105613723		2176	4287	6463	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105613723C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2419G>A	14.37:g.105613723C>T	ENSP00000328169:p.Gly807Ser					JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	p.G807S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	20	2822	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	807			EGF-like 15; calcium-binding (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.2419G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.906351	0.92107	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.96459	-4.02;-4.02	4.19	4.19	0.49359	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	0.97031	0.9030	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.955;1.0	D	0.97566	1.0101	10	0.62326	D	0.03	.	15.6731	0.77295	0.0:1.0:0.0:0.0	.	769;807	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	S	807;769	ENSP00000328169:G807S;ENSP00000328566:G769S	ENSP00000328169:G807S	G	-	1	0	JAG2	104684768	0.987000	0.35691	0.868000	0.34077	0.640000	0.38277	5.757000	0.68766	2.172000	0.68678	0.446000	0.29264	GGC		0.667	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			10	67	0	0	0	1	0	10	67				
IGSF9B	22997	broad.mit.edu	37	11	133790821	133790821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790821C>A	ENST00000321016.8	-	18	3029	c.2799G>T	c.(2797-2799)caG>caT	p.Q933H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.Q933H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	933	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCGCGGGGCTGGAACCGAG	0.697																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2797-2799)caG>caT		immunoglobulin superfamily, member 9B							31.0	38.0	36.0					11																	133790821		1970	4131	6101	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790821C>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2799G>T	11.37:g.133790821C>A	ENSP00000317980:p.Gln933His					IGSF9B_ENST00000533871.2_Missense_Mutation_p.Q933H	p.Q933H			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3029	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	933			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2799G>T		.	.	.	.	.	.	.	.	.	.	C	10.43	1.348126	0.24426	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66280	0.13;-0.2	4.44	3.52	0.40303	.	0.000000	0.42420	D	0.000714	T	0.40322	0.1112	N	0.17082	0.46	0.36966	D	0.893595	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.27785	T	0.31	.	6.611	0.22751	0.0:0.7898:0.0:0.2102	.	933	Q9UPX0	TUTLB_HUMAN	H	933;775	ENSP00000317980:Q933H;ENSP00000436552:Q775H	ENSP00000317980:Q933H	Q	-	3	2	IGSF9B	133296031	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.509000	0.53386	1.081000	0.41110	0.561000	0.74099	CAG		0.697	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		78	271	1	0	1.24833e-42	1	1.5209e-42	78	271				
PRKDC	5591	broad.mit.edu	37	8	48743248	48743248	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48743248T>C	ENST00000314191.2	-	62	8368	c.8312A>G	c.(8311-8313)tAc>tGc	p.Y2771C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2772	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTAGCTTCTGTACAGAACGAC	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8311-8313)tAc>tGc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							96.0	102.0	100.0					8																	48743248		2015	4185	6200	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48743248T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8312A>G	8.37:g.48743248T>C	ENSP00000313420:p.Tyr2771Cys					PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C|PRKDC_ENST00000523565.1_5'UTR	p.Y2771C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			62	8368	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2772			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8312A>G		.	.	.	.	.	.	.	.	.	.	T	23.3	4.399114	0.83120	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03553	3.96;3.89	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	T	0.22589	0.0545	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.85	T	0.01405	-1.1363	10	0.87932	D	0	.	15.7828	0.78275	0.0:0.0:0.0:1.0	.	2771;2772	E7EUY0;P78527	.;PRKDC_HUMAN	C	2771	ENSP00000313420:Y2771C;ENSP00000345182:Y2771C	ENSP00000313420:Y2771C	Y	-	2	0	PRKDC	48905801	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.681000	0.84073	2.141000	0.66446	0.533000	0.62120	TAC		0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		48	320	0	0	0	1	0	48	320				
ALG10B	144245	broad.mit.edu	37	12	38714900	38714900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38714900G>A	ENST00000308742.4	+	3	1623	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	436					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCCACATCCAGACTTGTTTGT	0.348																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1306-1308)aGa>aAa		ALG10B, alpha-1,2-glucosyltransferase							190.0	187.0	188.0					12																	38714900		2203	4299	6502	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714900G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1307G>A	12.37:g.38714900G>A	ENSP00000310120:p.Arg436Lys					ALG10B_ENST00000551464.1_Intron	p.R436K	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1623	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	436					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.1307G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.336137	0.01287	.	.	ENSG00000175548	ENST00000308742	T	0.30981	1.51	3.49	1.67	0.24075	.	0.226336	0.50627	N	0.000102	T	0.15349	0.0370	N	0.21583	0.68	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09271	-1.0682	10	0.15499	T	0.54	.	5.535	0.17005	0.3517:0.0:0.6483:0.0	.	436	Q5I7T1	AG10B_HUMAN	K	436	ENSP00000310120:R436K	ENSP00000310120:R436K	R	+	2	0	ALG10B	37001167	0.962000	0.33011	0.782000	0.31804	0.057000	0.15508	2.340000	0.43974	0.487000	0.27698	0.655000	0.94253	AGA		0.348	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		155	691	0	0	0	1	0	155	691				
SPTBN2	6712	broad.mit.edu	37	11	66460174	66460174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66460174G>A	ENST00000533211.1	-	26	5354	c.5023C>T	c.(5023-5025)Ctg>Ttg	p.L1675L	SPTBN2_ENST00000529997.1_Silent_p.L1675L|SPTBN2_ENST00000309996.2_Silent_p.L1675L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1675					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCGGCATACAGCTTGTCCACC	0.637																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5023-5025)Ctg>Ttg		spectrin, beta, non-erythrocytic 2							41.0	33.0	36.0					11																	66460174		2200	4293	6493	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460174G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5023C>T	11.37:g.66460174G>A						SPTBN2_ENST00000529997.1_Silent_p.L1675L|SPTBN2_ENST00000309996.2_Silent_p.L1675L	p.L1675L			O15020	SPTN2_HUMAN			26	5354	-			1675					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5023C>T	CCDS8150.1																																																																																				0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		47	221	0	0	0	1	0	47	221				
ROCK1	6093	broad.mit.edu	37	18	18588085	18588085	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18588085C>A	ENST00000399799.2	-	14	2421	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	494	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCATTAATTCTATGCTGTAG	0.313																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1480-1482)aGa>aTa		Rho-associated, coiled-coil containing protein kinase 1							140.0	120.0	127.0					18																	18588085		2201	4296	6497	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18588085C>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1481G>T	18.37:g.18588085C>A	ENSP00000382697:p.Arg494Ile						p.R494I	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			14	2421	-	Melanoma(1;0.165)		494			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1481G>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450332	0.84101	.	.	ENSG00000067900	ENST00000399799	D	0.82619	-1.63	5.46	3.69	0.42338	.	0.055889	0.64402	D	0.000001	T	0.79551	0.4465	L	0.47716	1.5	0.58432	D	0.999997	B	0.28178	0.202	B	0.36335	0.222	T	0.76740	-0.2848	10	0.62326	D	0.03	.	10.0434	0.42173	0.0:0.7669:0.0:0.2331	.	494	Q13464	ROCK1_HUMAN	I	494	ENSP00000382697:R494I	ENSP00000382697:R494I	R	-	2	0	ROCK1	16842083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.180000	0.58296	0.872000	0.35775	0.591000	0.81541	AGA		0.313	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		32	149	1	0	1.7881e-09	1	1.88299e-09	32	149				
AK1	203	broad.mit.edu	37	9	130635041	130635041	+	Silent	SNP	G	G	A	rs202106101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130635041G>A	ENST00000373176.1	-	4	287	c.135C>T	c.(133-135)tcC>tcT	p.S45S	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.S45S|AK1_ENST00000223836.10_Silent_p.S61S	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						AGCTGACCTCGGACCGCAGGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16814	0.0		0.001	False		,,,				2504	0.0					ENST00000373176.1																			0				endometrium(1)|prostate(1)	2						c.(133-135)tcC>tcT		adenylate kinase 1		G		0,4406		0,0,2203	69.0	60.0	63.0		135	-6.5	0.9	9		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AK1	NM_000476.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		45/195	130635041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130635041G>A	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.135C>T	9.37:g.130635041G>A						RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.S61S|AK1_ENST00000373156.1_Silent_p.S45S	p.S45S	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN			4	287	-			45						Silent	SNP	ENST00000373176.1	37	c.135C>T	CCDS6881.1																																																																																				0.637	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			44	198	0	0	0	1	0	44	198				
DSCAM	1826	broad.mit.edu	37	21	41711061	41711061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41711061G>A	ENST00000400454.1	-	7	1969	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	498	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACGTTTATTCGAGCCTGGTAC	0.527																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1492-1494)Cga>Tga		Down syndrome cell adhesion molecule							85.0	82.0	83.0					21																	41711061		1968	4171	6139	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711061G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1492C>T	21.37:g.41711061G>A	ENSP00000383303:p.Arg498*						p.R498*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			7	1969	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	498			Ig-like C2-type 5.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.1492C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	38	6.699790	0.97772	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	6.08	4.28	0.50868	.	0.076737	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2318	0.54492	0.0643:0.1204:0.8153:0.0	.	.	.	.	X	498;250	.	ENSP00000383303:R498X	R	-	1	2	DSCAM	40632931	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.751000	0.98889	0.903000	0.36546	-0.165000	0.13383	CGA		0.527	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		79	244	0	0	0	1	0	79	244				
TAGLN2	8407	broad.mit.edu	37	1	159890321	159890321	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159890321C>T	ENST00000368097.4	-	0	289				TAGLN2_ENST00000368096.1_Silent_p.P14P|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2						epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGGTGGCTGCGGGGAGCTAG	0.562																																						ENST00000368096.1																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(40-42)ccG>ccA		transgelin 2							20.0	20.0	20.0					1																	159890321		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159890321C>T	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.-22G>A	1.37:g.159890321C>T						TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368097.4_5'UTR|TAGLN2_ENST00000320307.4_5'UTR	p.P14P	NM_001277224.1	NP_001264153.1	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	288	-	all_hematologic(112;0.0597)		0					E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Silent	SNP	ENST00000368097.4	37	c.42G>A	CCDS1189.1																																																																																				0.562	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		56	139	0	0	0	1	0	56	139				
AKAP9	10142	broad.mit.edu	37	7	91735055	91735055	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91735055A>G	ENST00000359028.2	+	47	11631	c.11406A>G	c.(11404-11406)agA>agG	p.R3802R	AKAP9_ENST00000358100.2_Silent_p.R3748R|AKAP9_ENST00000356239.3_Silent_p.R3798R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3802					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTAACAGAGATGGCTTTG	0.393			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11404-11406)agA>agG		A kinase (PRKA) anchor protein 9							136.0	135.0	135.0					7																	91735055		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91735055A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11406A>G	7.37:g.91735055A>G						AKAP9_ENST00000356239.3_Silent_p.R3798R|AKAP9_ENST00000358100.2_Silent_p.R3748R	p.R3802R			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		47	11631	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3802					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.11406A>G																																																																																					0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		48	405	0	0	0	1	0	48	405				
ALG13	79868	broad.mit.edu	37	X	110954908	110954908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:110954908G>A	ENST00000394780.3	+	6	852	c.840G>A	c.(838-840)gtG>gtA	p.V280V	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.V176V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	280	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TGAAGTATGTGGAGGGATCTT	0.343																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(838-840)gtG>gtA		ALG13, UDP-N-acetylglucosaminyltransferase subunit							236.0	186.0	201.0					X																	110954908		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110954908G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.840G>A	X.37:g.110954908G>A						ALG13_ENST00000251943.4_Silent_p.V176V	p.V280V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			6	852	+			280			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.840G>A	CCDS55477.1																																																																																				0.343	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		34	114	0	0	0	1	0	34	114				
XPC	7508	broad.mit.edu	37	3	14187592	14187592	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14187592C>A	ENST00000285021.7	-	16	2886	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	RP11-434D12.1_ENST00000601399.1_Intron|RP11-434D12.1_ENST00000608606.1_Intron|AC093495.4_ENST00000428681.3_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.S854I|AC093495.4_ENST00000420253.1_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	891	Interaction with ERCC2 and GTF2H1.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTGAGAGCTGGTCCCCTC	0.577			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2671-2673)aGc>aTc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							41.0	44.0	43.0					3																	14187592		1967	4164	6131	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14187592C>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2672G>T	3.37:g.14187592C>A	ENSP00000285021:p.Ser891Ile					RP11-434D12.1_ENST00000601399.1_RNA|AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.S854I	p.S891I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			16	2886	-			891			Interaction with ERCC2 and GTF2H1.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.2672G>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537048	0.85812	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.37058	1.22;1.25	5.7	5.7	0.88788	.	0.155128	0.64402	D	0.000020	T	0.52008	0.1708	M	0.68317	2.08	0.50313	D	0.999861	D;D	0.69078	0.995;0.997	P;P	0.59221	0.798;0.854	T	0.46992	-0.9151	10	0.38643	T	0.18	-26.1526	13.0849	0.59135	0.0:0.9269:0.0:0.0731	.	854;891	E9PH69;Q01831	.;XPC_HUMAN	I	891;854	ENSP00000285021:S891I;ENSP00000404002:S854I	ENSP00000285021:S891I	S	-	2	0	XPC	14162593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.883000	0.39658	2.684000	0.91462	0.585000	0.79938	AGC		0.577	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		35	144	1	0	3.11337e-16	1	3.41587e-16	35	144				
ZNF331	55422	broad.mit.edu	37	19	54080543	54080543	+	Silent	SNP	C	C	T	rs569571621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54080543C>T	ENST00000253144.9	+	7	2062	c.729C>T	c.(727-729)taC>taT	p.Y243Y	ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000513999.1_Silent_p.Y243Y|ZNF331_ENST00000511593.2_Silent_p.Y243Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAAGACTACGAATGCAAAG	0.463			T	?	follicular thyroid adenoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19595	0.0		0.0	False		,,,				2504	0.0					ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(727-729)taC>taT		zinc finger protein 331							62.0	67.0	65.0					19																	54080543		2203	4300	6503	SO:0001819	synonymous_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080543C>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.729C>T	19.37:g.54080543C>T						ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000511593.2_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000513999.1_Silent_p.Y243Y	p.Y243Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2062	+			243					Q96GJ4	Silent	SNP	ENST00000253144.9	37	c.729C>T	CCDS33102.1																																																																																				0.463	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		98	353	0	0	0	1	0	98	353				
CD44	960	broad.mit.edu	37	11	35218302	35218302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35218302G>T	ENST00000428726.2	+	6	800	c.677G>T	c.(676-678)aGc>aTc	p.S226I	CD44_ENST00000433892.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000415148.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000352818.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	226	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	GCTTTGATGAGCACTAGTGCT	0.373																																						ENST00000428726.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(676-678)aGc>aTc		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						100.0	87.0	91.0					11																	35218302		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35218302G>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.677G>T	11.37:g.35218302G>T	ENSP00000398632:p.Ser226Ile					CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000352818.4_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000360158.4_Intron	p.S226I	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		6	800	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	226			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.677G>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.953|6.953	0.545717|0.545717	0.13312|0.13312	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000525685|ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	4.53|4.53	1.29|1.29	0.21616|0.21616	.|.	.|0.314365	.|0.23530	.|N	.|0.047198	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.40543|0.40543	1.245|1.245	0.51233|0.51233	D|D	0.999912|0.999912	.|B	.|0.14012	.|0.009	.|B	.|0.15870	.|0.014	T|T	0.05468|0.05468	-1.0883|-1.0883	5|10	.|0.54805	.|T	.|0.06	-21.6781|-21.6781	6.578|6.578	0.22577|0.22577	0.0:0.1787:0.4537:0.3676|0.0:0.1787:0.4537:0.3676	.|.	.|226	.|P16070	.|CD44_HUMAN	S|I	94|226	.|ENSP00000414567:S226I;ENSP00000391008:S226I;ENSP00000403990:S226I;ENSP00000398632:S226I	.|ENSP00000398632:S226I	A|S	+|+	1|2	0|0	CD44|CD44	35174878|35174878	0.395000|0.395000	0.25254|0.25254	0.685000|0.685000	0.30070|0.30070	0.171000|0.171000	0.22731|0.22731	0.440000|0.440000	0.21592|0.21592	0.311000|0.311000	0.23014|0.23014	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.373	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		30	127	1	0	1.06801e-11	1	1.14091e-11	30	127				
MECOM	2122	broad.mit.edu	37	3	168833312	168833312	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168833312G>T	ENST00000464456.1	-	7	2984	c.1784C>A	c.(1783-1785)gCc>gAc	p.A595D	MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000433243.2_Missense_Mutation_p.A596D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000494292.1_Missense_Mutation_p.A783D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	5					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTCCCACTGGCTCTACTCCT	0.532																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1783-1785)gCc>gAc		MDS1 and EVI1 complex locus							149.0	138.0	142.0					3																	168833312		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833312G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1784C>A	3.37:g.168833312G>T	ENSP00000419770:p.Ala595Asp					MECOM_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D|MECOM_ENST00000494292.1_Missense_Mutation_p.A783D|MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D|MECOM_ENST00000433243.2_Missense_Mutation_p.A596D	p.A595D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2984	-			5					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1784C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814546	0.50527	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.08458	3.38;3.37;3.34;3.48;3.32;3.37;3.33;3.48;3.09	5.61	5.61	0.85477	.	0.343104	0.21326	N	0.076363	T	0.21921	0.0528	L	0.49350	1.555	0.51012	D	0.999901	D;D;D;D;P	0.60575	0.988;0.985;0.98;0.985;0.932	P;P;P;P;P	0.57776	0.827;0.775;0.696;0.775;0.454	T	0.00071	-1.2131	10	0.46703	T	0.11	-9.0053	19.6299	0.95698	0.0:0.0:1.0:0.0	.	783;596;783;660;595	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	660;595;595;596;783;595;595;596;246	ENSP00000264674:A660D;ENSP00000376493:A595D;ENSP00000419770:A595D;ENSP00000420048:A596D;ENSP00000417899:A783D;ENSP00000419995:A595D;ENSP00000420466:A595D;ENSP00000394302:A596D;ENSP00000417506:A246D	ENSP00000264674:A660D	A	-	2	0	MECOM	170316006	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	5.709000	0.68384	2.639000	0.89480	0.655000	0.94253	GCC		0.532	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		74	273	1	0	1.43987e-31	1	1.69592e-31	74	273				
LRRC66	339977	broad.mit.edu	37	4	52862271	52862271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52862271G>A	ENST00000343457.3	-	4	923	c.917C>T	c.(916-918)cCt>cTt	p.P306L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	306						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAATGGGAGGAAGGCGGGT	0.537																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(916-918)cCt>cTt		leucine rich repeat containing 66							53.0	50.0	51.0					4																	52862271		1840	4096	5936	SO:0001583	missense	339977					integral to membrane		g.chr4:52862271G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.917C>T	4.37:g.52862271G>A	ENSP00000341944:p.Pro306Leu						p.P306L	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	923	-			306						Missense_Mutation	SNP	ENST00000343457.3	37	c.917C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719568	0.48728	.	.	ENSG00000188993	ENST00000343457	T	0.36157	1.27	4.24	1.46	0.22682	.	0.353469	0.20919	N	0.083305	T	0.22898	0.0553	N	0.24115	0.695	0.20563	N	0.999881	B	0.25272	0.122	B	0.29267	0.1	T	0.17531	-1.0366	10	0.40728	T	0.16	-2.7327	7.8087	0.29217	0.2827:0.0:0.7173:0.0	.	306	Q68CR7	LRC66_HUMAN	L	306	ENSP00000341944:P306L	ENSP00000341944:P306L	P	-	2	0	LRRC66	52557028	0.933000	0.31639	0.006000	0.13384	0.007000	0.05969	1.398000	0.34554	0.136000	0.18733	0.467000	0.42956	CCT		0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		62	202	0	0	0	1	0	62	202				
SNHG1	23642	broad.mit.edu	37	11	62620486	62620486	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62620486T>C	ENST00000384756.1	-	0	21				SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000516331.1_RNA	NR_000008.2				small nucleolar RNA host gene 1 (non-protein coding)																		GAGTAAGACATGTGAAAGTTT	0.453																																						ENST00000384756.1																			0																				96.0	83.0	87.0					11																	62620486		874	1990	2864			0							g.chr11:62620486T>C	L36588		11q12.3	2013-07-02	2008-08-14		ENSG00000255717	ENSG00000255717		"""Long non-coding RNAs"", ""-"""	32688	non-coding RNA	RNA, long non-coding	"""U22 snoRNA host gene"", ""non-protein coding RNA 57"", ""long intergenic non-protein coding RNA 57"""	603222				8559254, 23801869	Standard	NR_003098		Approved	UHG, NCRNA00057, LINC00057	uc001nvt.3		OTTHUMG00000167743		11.37:g.62620486T>C								NR_000008.2						0	21	-									RNA	SNP	ENST00000384756.1	37																																																																																						0.453	SNHG1-208	KNOWN	basic	snoRNA	processed_transcript		NR_003098		63	279	0	0	0	1	0	63	279				
SGCB	6443	broad.mit.edu	37	4	52899737	52899737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52899737C>A	ENST00000381431.5	-	2	325	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SGCB_ENST00000535450.1_Intron	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	35					cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTGTTGTGCTCTTTATTGACA	0.408																																						ENST00000381431.5																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17						c.(103-105)Gag>Tag		sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)							233.0	203.0	213.0					4																	52899737		2203	4300	6503	SO:0001587	stop_gained	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52899737C>A	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.103G>T	4.37:g.52899737C>A	ENSP00000370839:p.Glu35*					SGCB_ENST00000535450.1_Intron	p.E35*	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		2	325	-			35					B7Z635|O00661	Nonsense_Mutation	SNP	ENST00000381431.5	37	c.103G>T	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275395	0.59649	.	.	ENSG00000163069	ENST00000381431	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.921	0.88966	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000370839:E35X	E	-	1	0	SGCB	52594494	1.000000	0.71417	0.997000	0.53966	0.051000	0.14879	7.750000	0.85110	2.476000	0.83614	0.650000	0.86243	GAG		0.408	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			16	463	1	0	5.3912e-06	1	5.54037e-06	16	463				
ZNF354B	117608	broad.mit.edu	37	5	178310832	178310832	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310832A>C	ENST00000322434.3	+	5	1605	c.1379A>C	c.(1378-1380)cAt>cCt	p.H460P	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCGAATTCATACTGGAGAA	0.378																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1378-1380)cAt>cCt		zinc finger protein 354B							80.0	81.0	80.0					5																	178310832		2203	4300	6503	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310832A>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1379A>C	5.37:g.178310832A>C	ENSP00000327143:p.His460Pro						p.H460P	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1605	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	460					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1379A>C	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276777	0.40294	.	.	ENSG00000178338	ENST00000322434	T	0.67698	-0.28	3.68	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74997	0.3790	H	0.95079	3.62	0.39204	D	0.963207	B	0.29886	0.26	B	0.34418	0.182	T	0.75434	-0.3319	9	0.87932	D	0	-51.6748	8.1574	0.31178	0.7958:0.2042:0.0:0.0	.	460	Q96LW1	Z354B_HUMAN	P	460	ENSP00000327143:H460P	ENSP00000327143:H460P	H	+	2	0	ZNF354B	178243438	1.000000	0.71417	0.704000	0.30370	0.600000	0.36913	6.232000	0.72313	0.470000	0.27294	0.454000	0.30748	CAT		0.378	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		116	381	0	0	0	1	0	116	381				
NPY	4852	broad.mit.edu	37	7	24329150	24329150	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24329150T>G	ENST00000407573.1	+	4	511	c.221T>G	c.(220-222)aTt>aGt	p.I74S	NPY_ENST00000242152.2_Missense_Mutation_p.I74S|NPY_ENST00000405982.1_Missense_Mutation_p.I74S			P01303	NPY_HUMAN	neuropeptide Y	74					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAGACACTGATTTCAGACCTC	0.418																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(220-222)aTt>aGt		neuropeptide Y							123.0	115.0	118.0					7																	24329150		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24329150T>G	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.221T>G	7.37:g.24329150T>G	ENSP00000384364:p.Ile74Ser					NPY_ENST00000242152.2_Missense_Mutation_p.I74S|NPY_ENST00000405982.1_Missense_Mutation_p.I74S	p.I74S			P01303	NPY_HUMAN			4	511	+			74						Missense_Mutation	SNP	ENST00000407573.1	37	c.221T>G	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508110	0.64410	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.13420	2.59;2.59;2.59	5.78	5.78	0.91487	.	0.158711	0.56097	D	0.000027	T	0.13200	0.0320	.	.	.	0.54753	D	0.999986	P	0.36683	0.565	B	0.27608	0.081	T	0.01904	-1.1250	9	0.87932	D	0	-5.3047	16.1141	0.81289	0.0:0.0:0.0:1.0	.	74	P01303	NPY_HUMAN	S	74	ENSP00000242152:I74S;ENSP00000384364:I74S;ENSP00000385282:I74S	ENSP00000242152:I74S	I	+	2	0	NPY	24295675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.214000	0.71695	0.528000	0.53228	ATT		0.418	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		75	315	0	0	0	1	0	75	315				
SRRM1	10250	broad.mit.edu	37	1	24996768	24996768	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24996768A>C	ENST00000323848.9	+	15	2677	c.2362A>C	c.(2362-2364)Aag>Cag	p.K788Q	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q|SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	788	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACCGGTCAAAAAGGCCAAAAG	0.517																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2362-2364)Aag>Cag		serine/arginine repetitive matrix 1							94.0	90.0	92.0					1																	24996768		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24996768A>C	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2362A>C	1.37:g.24996768A>C	ENSP00000326261:p.Lys788Gln					SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q|SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q|SRRM1_ENST00000479034.1_3'UTR	p.K788Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	15	2677	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	788			Pro-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2362A>C	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929630	0.73327	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56275	0.68;0.47;0.47	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	T	0.48978	0.1530	L	0.46157	1.445	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.38803	0.282;0.146	T	0.54296	-0.8315	10	0.62326	D	0.03	-3.162	15.7229	0.77728	1.0:0.0:0.0:0.0	.	800;788	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	788;800;797	ENSP00000326261:K788Q;ENSP00000391430:K800Q;ENSP00000363510:K797Q	ENSP00000326261:K788Q	K	+	1	0	SRRM1	24869355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.410000	0.90225	2.116000	0.64780	0.528000	0.53228	AAG		0.517	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		67	497	0	0	0	1	0	67	497				
PCLO	27445	broad.mit.edu	37	7	82453619	82453619	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453619G>A	ENST00000333891.9	-	19	14866	c.14529C>T	c.(14527-14529)agC>agT	p.S4843S	PCLO_ENST00000423517.2_Silent_p.S4843S|PCLO_ENST00000426442.2_5'UTR	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						GGGACTGCTGGCTGCTCTGAC	0.423																																						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.(14527-14529)agC>agT		piccolo presynaptic cytomatrix protein							100.0	99.0	99.0					7																	82453619		2001	4184	6185	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82453619G>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.14529C>T	7.37:g.82453619G>A						PCLO_ENST00000333891.8_Silent_p.S4843S|PCLO_ENST00000426442.2_5'UTR	p.S4843S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			19	14866	-			4705						Silent	SNP	ENST00000333891.9	37	c.14529C>T	CCDS47630.1																																																																																				0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		36	119	0	0	0	1	0	36	119				
UBQLN1	29979	broad.mit.edu	37	9	86293447	86293447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293447C>A	ENST00000376395.4	-	5	1302	c.779G>T	c.(778-780)aGc>aTc	p.S260I	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	260					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCTAGGTTGCTCAAAGCTCG	0.443																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(778-780)aGc>aTc		ubiquilin 1							345.0	351.0	349.0					9																	86293447		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293447C>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.779G>T	9.37:g.86293447C>A	ENSP00000365576:p.Ser260Ile					UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			5	1302	-			260					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.779G>T	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235092	0.95207	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80738	-1.41;-1.41;-1.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	D	0.90439	0.4430	10	0.62326	D	0.03	.	19.8449	0.96704	0.0:1.0:0.0:0.0	.	260;260	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	I	260;260;57	ENSP00000365576:S260I;ENSP00000257468:S260I;ENSP00000434194:S57I	ENSP00000257468:S260I	S	-	2	0	UBQLN1	85483267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.680000	0.91292	0.655000	0.94253	AGC		0.443	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		342	1617	1	0	4.77687e-79	1	6.1043e-79	342	1617				
ZDBF2	57683	broad.mit.edu	37	2	207169653	207169653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207169653G>A	ENST00000374423.3	+	5	787	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	134							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTTCAGTTCGACCATCAGTT	0.443																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(400-402)cGa>cAa		zinc finger, DBF-type containing 2							64.0	59.0	60.0					2																	207169653		1891	4120	6011	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169653G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.401G>A	2.37:g.207169653G>A	ENSP00000363545:p.Arg134Gln						p.R134Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	787	+			134					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.401G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040714	0.75732	.	.	ENSG00000204186	ENST00000374423	T	0.17854	2.25	5.16	4.28	0.50868	.	0.000000	0.29745	N	0.011318	T	0.25269	0.0614	L	0.53249	1.67	0.09310	N	1	D	0.61697	0.99	P	0.58331	0.837	T	0.14924	-1.0455	10	0.48119	T	0.1	.	3.991	0.09537	0.0872:0.2749:0.4964:0.1415	.	134	Q9HCK1	ZDBF2_HUMAN	Q	134	ENSP00000363545:R134Q	ENSP00000363545:R134Q	R	+	2	0	ZDBF2	206877898	0.012000	0.17670	0.811000	0.32455	0.976000	0.68499	0.947000	0.29082	2.402000	0.81655	0.650000	0.86243	CGA		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		51	118	0	0	0	1	0	51	118				
CACNA1B	774	broad.mit.edu	37	9	140809245	140809245	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140809245C>A	ENST00000371372.1	+	5	907	c.762C>A	c.(760-762)ttC>ttA	p.F254L	CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	254					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCCTGTTTCCCCAACAGCA	0.562																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(760-762)ttC>ttA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						83.0	81.0	82.0					9																	140809245		2129	4252	6381	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809245C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.762C>A	9.37:g.140809245C>A	ENSP00000360423:p.Phe254Leu					CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L	p.F254L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	5	907	+	all_cancers(76;0.166)		254					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.762C>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151009	0.38021	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	4.34	3.44	0.39384	.	0.111472	0.64402	D	0.000006	D	0.95887	0.8661	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	P	0.45753	0.492	D	0.94161	0.7414	10	0.51188	T	0.08	.	8.9929	0.36035	0.0:0.8203:0.0:0.1797	.	254	B1AQK6	.	L	254	ENSP00000360423:F254L;ENSP00000277551:F254L;ENSP00000360414:F254L;ENSP00000360408:F254L;ENSP00000360406:F254L	ENSP00000277551:F254L	F	+	3	2	CACNA1B	139929066	0.980000	0.34600	0.998000	0.56505	0.929000	0.56500	2.042000	0.41222	1.011000	0.39340	0.561000	0.74099	TTC		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		18	122	1	0	4.35082e-09	1	4.56966e-09	18	122				
CACNA1A	773	broad.mit.edu	37	19	13370400	13370400	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13370400A>G	ENST00000360228.5	-	27	4365	c.4366T>C	c.(4366-4368)Tcc>Ccc	p.S1456P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1457			V -> L (in FHM1; dbSNP:rs121908237). {ECO:0000269|PubMed:10408532}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCCCGTGGACACGGTGAAG	0.552																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4366-4368)Tcc>Ccc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						42.0	44.0	43.0					19																	13370400		1953	4136	6089	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13370400A>G	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4366T>C	19.37:g.13370400A>G	ENSP00000353362:p.Ser1456Pro					CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	p.S1456P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		27	4365	-			1457		V -> L (in FHM1; dbSNP:rs121908237).			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4366T>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510055	0.64522	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98531	-4.98	4.88	4.88	0.63580	Ion transport (1);	0.137604	0.49916	D	0.000130	D	0.99102	0.9691	M	0.92604	3.325	0.58432	D	0.999997	P;P;D	0.89917	0.883;0.928;1.0	P;P;D	0.91635	0.747;0.703;0.999	D	0.99414	1.0931	10	0.72032	D	0.01	.	13.5025	0.61465	1.0:0.0:0.0:0.0	.	1457;1460;1456	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	P	1456;1460;1457;1457;73	ENSP00000353362:S1456P	ENSP00000317661:S1457P	S	-	1	0	CACNA1A	13231400	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.337000	0.96545	1.838000	0.53458	0.459000	0.35465	TCC		0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		15	49	0	0	0	1	0	15	49				
MOG	4340	broad.mit.edu	37	6	29635428	29635428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29635428C>T	ENST00000376917.3	+	4	788	c.559C>T	c.(559-561)Cga>Tga	p.R187*	MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000376894.4_Nonsense_Mutation_p.R187*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	187					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGGAAAACTTCGAGCAGAGAT	0.507																																						ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(559-561)Cga>Tga		myelin oligodendrocyte glycoprotein							186.0	179.0	181.0					6																	29635428		2203	4300	6503	SO:0001587	stop_gained	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29635428C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.559C>T	6.37:g.29635428C>T	ENSP00000366115:p.Arg187*					MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000376917.3_Nonsense_Mutation_p.R187*|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*	p.R187*			Q16653	MOG_HUMAN			4	677	+			187					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Nonsense_Mutation	SNP	ENST00000376917.3	37	c.559C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920335	0.73098	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	.	.	.	5.09	2.36	0.29203	.	0.343745	0.21435	N	0.074597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4759	0.16695	0.0:0.6592:0.1633:0.1775	.	.	.	.	X	187;71;187;71;71;149;187;187;187;187;187;187	.	ENSP00000366085:R71X	R	+	1	2	MOG	29743407	0.022000	0.18835	0.326000	0.25389	0.956000	0.61745	0.731000	0.26058	0.412000	0.25729	0.655000	0.94253	CGA		0.507	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		35	376	0	0	0	1	0	35	376				
KIAA0430	9665	broad.mit.edu	37	16	15728717	15728717	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15728717T>C	ENST00000396368.3	-	4	1109	c.903A>G	c.(901-903)gcA>gcG	p.A301A	KIAA0430_ENST00000602337.1_Silent_p.A301A|KIAA0430_ENST00000548025.1_Silent_p.A301A|KIAA0430_ENST00000344181.3_Silent_p.A123A|KIAA0430_ENST00000540441.2_Silent_p.A301A|KIAA0430_ENST00000551742.1_Silent_p.A301A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	301					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAGCAAGAGGTGCAGGTTGAG	0.438																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(901-903)gcA>gcG		KIAA0430							249.0	233.0	238.0					16																	15728717		1960	4139	6099	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15728717T>C	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.903A>G	16.37:g.15728717T>C						KIAA0430_ENST00000548025.1_Silent_p.A301A|KIAA0430_ENST00000602337.1_Silent_p.A301A|KIAA0430_ENST00000551742.1_Silent_p.A301A|KIAA0430_ENST00000344181.3_Silent_p.A123A|KIAA0430_ENST00000540441.2_Silent_p.A301A	p.A301A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			4	1109	-			300					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.903A>G	CCDS10562.2																																																																																				0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		17	837	0	0	0	1	0	17	837				
CCDC37	348807	broad.mit.edu	37	3	126154401	126154401	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126154401G>T	ENST00000352312.1	+	16	1727		c.e16-1		CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000393425.1_Splice_Site|CCDC37_ENST00000505024.1_Splice_Site	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37											NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTGCCACCCAGACTTCGAGAA	0.572																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.e16-1		coiled-coil domain containing 37							40.0	45.0	44.0					3																	126154401		2203	4300	6503	SO:0001630	splice_region_variant	348807							g.chr3:126154401G>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1629-1G>T	3.37:g.126154401G>T						CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000352312.1_Splice_Site|CCDC37_ENST00000505024.1_Splice_Site				Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	16	1730	+								D3DNA8|Q494V1|Q494V4|Q8N838	Splice_Site	SNP	ENST00000352312.1	37		CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900877	0.33535	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8516	0.70300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC37	127637091	1.000000	0.71417	0.930000	0.37139	0.256000	0.26092	6.572000	0.74005	2.162000	0.67917	0.491000	0.48974	.		0.572	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	Intron	34	140	1	0	3.11337e-16	1	3.41587e-16	34	140				
ELOVL6	79071	broad.mit.edu	37	4	110972708	110972708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110972708G>A	ENST00000394607.3	-	5	747	c.584C>T	c.(583-585)gCc>gTc	p.A195V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	195					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GATGAACATGGCAAACTTCCG	0.537																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(583-585)gCc>gTc		ELOVL fatty acid elongase 6							87.0	75.0	79.0					4																	110972708		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972708G>A	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.584C>T	4.37:g.110972708G>A	ENSP00000378105:p.Ala195Val					ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V	p.A195V			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	747	-			195					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.584C>T	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083593	0.94050	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.24538	1.85;1.85	5.97	5.13	0.70059	.	0.146407	0.64402	N	0.000007	T	0.58652	0.2137	M	0.91038	3.17	0.80722	D	1	D	0.59357	0.985	D	0.68943	0.961	T	0.67669	-0.5611	10	0.49607	T	0.09	-18.8957	15.3016	0.73955	0.0671:0.0:0.9329:0.0	.	195	Q9H5J4	ELOV6_HUMAN	V	195	ENSP00000378105:A195V;ENSP00000304736:A195V	ENSP00000304736:A195V	A	-	2	0	ELOVL6	111192157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.807000	0.99171	1.532000	0.49169	0.655000	0.94253	GCC		0.537	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		61	249	0	0	0	1	0	61	249				
DNAH1	25981	broad.mit.edu	37	3	52429072	52429072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52429072C>T	ENST00000420323.2	+	68	11226	c.10965C>T	c.(10963-10965)ccC>ccT	p.P3655P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3720					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATTGAACCCCAGGCAAGTG	0.617																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10963-10965)ccC>ccT		dynein, axonemal, heavy chain 1							28.0	31.0	30.0					3																	52429072		2042	4185	6227	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429072C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10965C>T	3.37:g.52429072C>T							p.P3655P	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	68	11226	+			3720					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.10965C>T	CCDS46842.1																																																																																				0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		7	48	0	0	0	1	0	7	48				
ARRDC5	645432	broad.mit.edu	37	19	4896836	4896836	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896836A>G	ENST00000381781.2	-	2	347	c.348T>C	c.(346-348)ccT>ccC	p.P116P		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	116										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGCCTGGGAGGTAAGTTGA	0.443																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(346-348)ccT>ccC		arrestin domain containing 5							156.0	152.0	153.0					19																	4896836		1936	4140	6076	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4896836A>G		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.348T>C	19.37:g.4896836A>G							p.P116P	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	2	347	-			116						Silent	SNP	ENST00000381781.2	37	c.348T>C	CCDS45929.1																																																																																				0.443	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		67	362	0	0	0	1	0	67	362				
VIT	5212	broad.mit.edu	37	2	36994315	36994315	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36994315C>A	ENST00000389975.3	+	7	868	c.566C>A	c.(565-567)gCt>gAt	p.A189D	VIT_ENST00000404084.1_Missense_Mutation_p.A167D|VIT_ENST00000401530.1_Missense_Mutation_p.A189D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.A189D|VIT_ENST00000379242.3_Missense_Mutation_p.A189D	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	189					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAGCTTCTGGCTGTCACTGTA	0.552																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(565-567)gCt>gAt		vitrin							78.0	69.0	72.0					2																	36994315		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36994315C>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.566C>A	2.37:g.36994315C>A	ENSP00000374625:p.Ala189Asp					VIT_ENST00000404084.1_Missense_Mutation_p.A167D|VIT_ENST00000379241.3_Missense_Mutation_p.A189D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Missense_Mutation_p.A189D|VIT_ENST00000401530.1_Missense_Mutation_p.A189D	p.A189D	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			7	868	+		all_hematologic(82;0.248)	189					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.566C>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744730	0.30865	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T	0.68765	-0.35;-0.28;-0.25;-0.19;-0.25	5.55	1.8	0.24995	.	0.653797	0.15080	N	0.281690	T	0.44953	0.1318	N	0.22421	0.69	0.09310	N	1	B;B;B;P	0.39782	0.094;0.302;0.201;0.688	B;B;B;B	0.36134	0.037;0.075;0.051;0.218	T	0.22347	-1.0219	10	0.30854	T	0.27	1.337	5.1502	0.15005	0.0:0.4925:0.2127:0.2948	.	189;189;189;189	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	D	189;189;167;189;189	ENSP00000368544:A189D;ENSP00000374625:A189D;ENSP00000384154:A167D;ENSP00000368543:A189D;ENSP00000385658:A189D	ENSP00000368543:A189D	A	+	2	0	VIT	36847819	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.630000	0.24553	0.051000	0.15978	-0.145000	0.13849	GCT		0.552	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				44	174	1	0	2.45108e-15	1	2.67628e-15	44	174				
ABCA3	21	broad.mit.edu	37	16	2347394	2347394	+	Silent	SNP	G	G	A	rs138901284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347394G>A	ENST00000301732.5	-	17	2899	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	ABCA3_ENST00000382381.3_Silent_p.I675I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	733	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCATGATGGCGATGCGGTCTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.001					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2197-2199)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	138.0	102.0	114.0		2199	-11.7	0.4	16	dbSNP_134	114	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	ABCA3	NM_001089.2		0,8,6490	AA,AG,GG		0.093,0.0,0.0616		733/1705	2347394	8,12988	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347394G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2199C>T	16.37:g.2347394G>A						ABCA3_ENST00000382381.3_Silent_p.I675I	p.I733I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2899	-		Ovarian(90;0.17)	733			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.2199C>T	CCDS10466.1																																																																																				0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		107	462	0	0	0	1	0	107	462				
LRIG3	121227	broad.mit.edu	37	12	59277343	59277343	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59277343T>C	ENST00000320743.3	-	11	1561	c.1275A>G	c.(1273-1275)ttA>ttG	p.L425L	LRIG3_ENST00000379141.4_Silent_p.L365L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	425					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATTGCCTTGTAAAGACATGA	0.383			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1273-1275)ttA>ttG		leucine-rich repeats and immunoglobulin-like domains 3							123.0	117.0	119.0					12																	59277343		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59277343T>C	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1275A>G	12.37:g.59277343T>C						LRIG3_ENST00000379141.4_Silent_p.L365L	p.L425L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		11	1561	-			425					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1275A>G	CCDS8960.1																																																																																				0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		47	268	0	0	0	1	0	47	268				
MOB3A	126308	broad.mit.edu	37	19	2076822	2076822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2076822C>A	ENST00000357066.3	-	4	991	c.612G>T	c.(610-612)gaG>gaT	p.E204D	MOB3A_ENST00000592280.1_Missense_Mutation_p.E204D|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	204						intracellular (GO:0005622)	metal ion binding (GO:0046872)										GTGGCTCCAGCTCCTTGGTGT	0.642																																						ENST00000357066.3																			0											c.(610-612)gaG>gaT		MOB kinase activator 3A							64.0	56.0	59.0					19																	2076822		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2076822C>A	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.612G>T	19.37:g.2076822C>A	ENSP00000349575:p.Glu204Asp					MOB3A_ENST00000592280.1_Missense_Mutation_p.E204D|MOB3A_ENST00000592143.1_Intron	p.E204D	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			4	991	-			204					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.612G>T	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623587	0.66901	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.5	1.26	0.21427	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.72894	2.215	0.58432	D	0.999999	D	0.63880	0.993	P	0.59889	0.865	T	0.60974	-0.7156	9	0.34782	T	0.22	-41.7599	6.7848	0.23668	0.0:0.6766:0.0:0.3234	.	204	Q96BX8	MOB3A_HUMAN	D	204	.	ENSP00000349575:E204D	E	-	3	2	MOBKL2A	2027822	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.270000	0.33086	0.698000	0.31739	0.491000	0.48974	GAG		0.642	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		20	188	1	0	4.96729e-08	1	5.17613e-08	20	188				
ACBD5	91452	broad.mit.edu	37	10	27497259	27497259	+	Silent	SNP	G	G	A	rs181926234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27497259G>A	ENST00000375888.1	-	10	1411	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000396271.3_Silent_p.I440I|ACBD5_ENST00000375905.4_Silent_p.I405I|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	449					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCACGAGGGCGATCTGCTCAT	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13635	0.0		0.0	False		,,,				2504	0.0					ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1318-1320)atC>atT		acyl-CoA binding domain containing 5							122.0	111.0	115.0					10																	27497259		2203	4300	6503	SO:0001819	synonymous_variant	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27497259G>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1347C>T	10.37:g.27497259G>A						ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Silent_p.I449I|ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000375905.4_Silent_p.I405I	p.I440I	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			10	1446	-			449					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37	c.1320C>T																																																																																					0.572	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		60	664	0	0	0	1	0	60	664				
FILIP1	27145	broad.mit.edu	37	6	76024448	76024448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76024448G>A	ENST00000237172.7	-	5	1430	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A367V	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	367										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCCTTTGGCAATTTTATC	0.413																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1099-1101)gCc>gTc		filamin A interacting protein 1							160.0	160.0	160.0					6																	76024448		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76024448G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1100C>T	6.37:g.76024448G>A	ENSP00000237172:p.Ala367Val					FILIP1_ENST00000237172.7_Missense_Mutation_p.A367V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V	p.A367V			Q7Z7B0	FLIP1_HUMAN			5	1321	-			367					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1100C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580619	0.28180	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.18338	2.22;2.22;2.22	5.65	5.65	0.86999	.	0.165064	0.56097	D	0.000031	T	0.07728	0.0194	N	0.25647	0.755	0.34645	D	0.721069	P;B;P	0.38922	0.651;0.415;0.551	B;B;B	0.36922	0.15;0.119;0.236	T	0.21042	-1.0257	10	0.25751	T	0.34	-18.1589	20.0965	0.97849	0.0:0.0:1.0:0.0	.	367;367;367	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	367;367;268	ENSP00000376728:A367V;ENSP00000237172:A367V;ENSP00000359037:A268V	ENSP00000237172:A367V	A	-	2	0	FILIP1	76081168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.824000	0.97209	0.655000	0.94253	GCC		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		146	713	0	0	0	1	0	146	713				
CACNA1E	777	broad.mit.edu	37	1	181741352	181741352	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181741352C>T	ENST00000367573.2	+	37	5124	c.5124C>T	c.(5122-5124)ttC>ttT	p.F1708F	CACNA1E_ENST00000367570.1_Silent_p.F1708F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|CACNA1E_ENST00000526775.1_Silent_p.F1689F|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000357570.5_Silent_p.F1659F|CACNA1E_ENST00000367567.4_Silent_p.F1315F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1708					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTTCATCTTCTTCTGCTCCT	0.537																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5065-5067)ttC>ttT		calcium channel, voltage-dependent, R type, alpha 1E subunit							207.0	206.0	206.0					1																	181741352		2184	4273	6457	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741352C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5124C>T	1.37:g.181741352C>T						CACNA1E_ENST00000367567.4_Silent_p.F1315F|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|CACNA1E_ENST00000367570.1_Silent_p.F1708F|CACNA1E_ENST00000367573.2_Silent_p.F1708F|CACNA1E_ENST00000357570.5_Silent_p.F1659F	p.F1689F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			36	5232	+			1708					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.5067C>T	CCDS55664.1																																																																																				0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		190	562	0	0	0	1	0	190	562				
CABS1	85438	broad.mit.edu	37	4	71201322	71201322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71201322G>T	ENST00000273936.5	+	1	640	c.566G>T	c.(565-567)aGc>aTc	p.S189I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	189					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGATATGAGCAATTATAAT	0.473																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(565-567)aGc>aTc		calcium-binding protein, spermatid-specific 1							58.0	63.0	62.0					4																	71201322		2200	4298	6498	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201322G>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.566G>T	4.37:g.71201322G>T	ENSP00000273936:p.Ser189Ile						p.S189I	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	625	+			189					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.566G>T	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	7.855	0.724735	0.15439	.	.	ENSG00000145309	ENST00000273936	T	0.22336	1.96	3.92	-4.25	0.03766	.	.	.	.	.	T	0.09379	0.0231	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31308	-0.9948	9	0.41790	T	0.15	.	0.6983	0.00903	0.235:0.1368:0.3074:0.3208	.	189	Q96KC9	CABS1_HUMAN	I	189	ENSP00000273936:S189I	ENSP00000273936:S189I	S	+	2	0	CABS1	71235911	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.149000	0.01291	-0.839000	0.04212	-1.044000	0.02363	AGC		0.473	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		48	213	1	0	5.78141e-17	1	6.36782e-17	48	213				
KIF19	124602	broad.mit.edu	37	17	72346711	72346711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72346711C>T	ENST00000389916.4	+	11	1523	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	462					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCACCATCGCCGGGTAAGCC	0.672																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1384-1386)gCc>gTc		kinesin family member 19							26.0	25.0	25.0					17																	72346711		2203	4298	6501	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72346711C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1385C>T	17.37:g.72346711C>T	ENSP00000374566:p.Ala462Val						p.A462V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			11	1523	+			462					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1385C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066952	0.76301	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74209	-0.82;-0.58	5.67	5.67	0.87782	.	.	.	.	.	D	0.84538	0.5494	M	0.69823	2.125	0.58432	D	0.999999	P;D;P;P	0.65815	0.923;0.995;0.837;0.734	P;P;P;P	0.62560	0.754;0.904;0.713;0.559	D	0.84054	0.0371	9	0.46703	T	0.11	.	18.5927	0.91220	0.0:1.0:0.0:0.0	.	462;420;420;462	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	420;462	ENSP00000449134:A420V;ENSP00000374566:A462V	ENSP00000374566:A462V	A	+	2	0	KIF19	69858306	1.000000	0.71417	0.614000	0.29051	0.022000	0.10575	6.963000	0.76055	2.695000	0.91970	0.650000	0.86243	GCC		0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		18	133	0	0	0	1	0	18	133				
PPP4R1	9989	broad.mit.edu	37	18	9570435	9570435	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9570435T>G	ENST00000400556.3	-	11	1366	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	431					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GTAACATAGATTTGTAGTTAC	0.418																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1291-1293)aaA>aaC		protein phosphatase 4, regulatory subunit 1							92.0	88.0	89.0					18																	9570435		1857	4085	5942	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570435T>G	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1293A>C	18.37:g.9570435T>G	ENSP00000383402:p.Lys431Asn					PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	p.K431N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			11	1366	-			431					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.1293A>C	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.636570	0.29068	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.19394	2.15;2.15	5.52	-1.54	0.08584	Armadillo-type fold (1);	1.051530	0.07338	N	0.880217	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.37079	-0.9721	9	.	.	.	-2.9067	0.4872	0.00558	0.1767:0.2291:0.2082:0.386	.	414;431;414	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	431;414;342	ENSP00000383402:K431N;ENSP00000383401:K414N	.	K	-	3	2	PPP4R1	9560435	0.000000	0.05858	0.001000	0.08648	0.572000	0.35998	0.382000	0.20635	0.014000	0.14944	0.482000	0.46254	AAA		0.418	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		91	426	0	0	0	1	0	91	426				
COL22A1	169044	broad.mit.edu	37	8	139763703	139763703	+	Nonsense_Mutation	SNP	G	G	A	rs200627175		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139763703G>A	ENST00000303045.6	-	22	2529	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	695	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTACTTACTCGGAGACCTTGC	0.448										HNSCC(7;0.00092)			G|||	1	0.000199681	0.0	0.0	5008	,	,		22233	0.0		0.001	False		,,,				2504	0.0					ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2083-2085)Cga>Tga		collagen, type XXII, alpha 1		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	113.0	113.0		2083	4.7	1.0	8		113	0,8600		0,0,4300	no	stop-gained	COL22A1	NM_152888.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		695/1627	139763703	1,13005	2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139763703G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2083C>T	8.37:g.139763703G>A	ENSP00000303153:p.Arg695*	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	p.R695*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		22	2529	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		695			Collagen-like 4.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.2083C>T	CCDS6376.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	44	11.243823	0.99536	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.72	4.72	0.59763	.	0.168727	0.26457	N	0.024262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.3916	0.60827	0.0:0.0:1.0:0.0	.	.	.	.	X	695;695;408	.	ENSP00000303153:R695X	R	-	1	2	COL22A1	139832885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.035000	0.57297	2.640000	0.89533	0.655000	0.94253	CGA		0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		32	175	0	0	0	1	0	32	175				
SFXN5	94097	broad.mit.edu	37	2	73198789	73198789	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73198789G>A	ENST00000272433.2	-	11	781	c.651C>T	c.(649-651)gtC>gtT	p.V217V	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	217					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACCGCATCAGGACCACATTGC	0.592																																						ENST00000272433.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(649-651)gtC>gtT		sideroflexin 5							106.0	74.0	85.0					2																	73198789		2203	4300	6503	SO:0001819	synonymous_variant	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73198789G>A	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.651C>T	2.37:g.73198789G>A						SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	p.V217V	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN			11	781	-			217					A8K116|Q494Y3|Q53T29	Silent	SNP	ENST00000272433.2	37	c.651C>T	CCDS1922.1																																																																																				0.592	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		19	211	0	0	0	1	0	19	211				
FAM117A	81558	broad.mit.edu	37	17	47841426	47841426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47841426G>A	ENST00000240364.2	-	1	103	c.24C>T	c.(22-24)ggC>ggT	p.G8G	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	8										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ctccgcctctgccgcccgctg	0.801																																						ENST00000240364.2																			0				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(22-24)ggC>ggT		family with sequence similarity 117, member A							5.0	7.0	6.0					17																	47841426		980	2175	3155	SO:0001819	synonymous_variant	81558							g.chr17:47841426G>A	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.24C>T	17.37:g.47841426G>A						FAM117A_ENST00000513602.1_Intron|FAM117A_ENST00000514018.1_Intron	p.G8G	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN			1	103	-			8					B7Z7Q3	Silent	SNP	ENST00000240364.2	37	c.24C>T	CCDS11553.1																																																																																				0.801	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		7	59	0	0	0	1	0	7	59				
AHNAK2	113146	broad.mit.edu	37	14	105412916	105412916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412916C>T	ENST00000333244.5	-	7	8991	c.8872G>A	c.(8872-8874)Gca>Aca	p.A2958T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2958						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCCGTGCACCATCCAGC	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8872-8874)Gca>Aca		AHNAK nucleoprotein 2							190.0	204.0	199.0					14																	105412916		2032	4185	6217	SO:0001583	missense	113146					nucleus		g.chr14:105412916C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8872G>A	14.37:g.105412916C>T	ENSP00000353114:p.Ala2958Thr					AHNAK2_ENST00000557457.1_Intron	p.A2958T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8991	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2958					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8872G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	7.167	0.586811	0.13749	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	1.88	-2.39	0.06602	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43861	-0.9365	9	0.28530	T	0.3	.	5.3304	0.15930	0.0:0.4614:0.0:0.5386	.	2958	Q8IVF2	AHNK2_HUMAN	T	2958	ENSP00000353114:A2958T	ENSP00000353114:A2958T	A	-	1	0	AHNAK2	104483961	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.434000	0.06939	-0.642000	0.05480	-0.683000	0.03753	GCA		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		366	1415	0	0	0	1	0	366	1415				
HNRNPM	4670	broad.mit.edu	37	19	8551214	8551214	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8551214C>T	ENST00000325495.4	+	14	1943	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	HNRNPM_ENST00000348943.3_Silent_p.F595F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	634					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGGAAGCTTCGCAGGTTCCT	0.602																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1783-1785)ttC>ttT		heterogeneous nuclear ribonucleoprotein M							42.0	45.0	44.0					19																	8551214		2203	4300	6503	SO:0001819	synonymous_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8551214C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1902C>T	19.37:g.8551214C>T						HNRNPM_ENST00000325495.4_Silent_p.F634F	p.F595F	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	2017	+			634			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1785C>T	CCDS12203.1																																																																																				0.602	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			34	309	0	0	0	1	0	34	309				
KANSL1	284058	broad.mit.edu	37	17	44108967	44108967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44108967G>A	ENST00000262419.6	-	15	3663	c.3193C>T	c.(3193-3195)Cga>Tga	p.R1065*	KANSL1_ENST00000393476.3_Nonsense_Mutation_p.R359*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.R1001*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1065	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGGTGCGTCGAGTGCAGCGG	0.687																																						ENST00000262419.6																			0											c.(3193-3195)Cga>Tga		KAT8 regulatory NSL complex subunit 1							37.0	33.0	34.0					17																	44108967		2203	4298	6501	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44108967G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3193C>T	17.37:g.44108967G>A	ENSP00000262419:p.Arg1065*					KANSL1_ENST00000393476.3_Nonsense_Mutation_p.R359*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.R1001*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.R1065*	p.R1065*	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			15	3663	-			1065					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.3193C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	54	22.730023	0.99950	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	5.54	5.54	0.83059	.	0.071575	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0141	18.0627	0.89382	0.0:0.0:1.0:0.0	.	.	.	.	X	1065;1065;359	.	ENSP00000262419:R1065X	R	-	1	2	KIAA1267	41464814	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.158000	0.77470	2.604000	0.88044	0.561000	0.74099	CGA		0.687	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		43	192	0	0	0	1	0	43	192				
PRAMEF12	390999	broad.mit.edu	37	1	12835753	12835753	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12835753G>T	ENST00000357726.4	+	2	382	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	119					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGTCTGGAGCTTCTGCACT	0.537																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(355-357)Gct>Tct		PRAME family member 12							134.0	152.0	146.0					1																	12835753		2166	4291	6457	SO:0001583	missense	390999							g.chr1:12835753G>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.355G>T	1.37:g.12835753G>T	ENSP00000350358:p.Ala119Ser						p.A119S	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	382	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	119						Missense_Mutation	SNP	ENST00000357726.4	37	c.355G>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	8.614	0.889750	0.17540	.	.	ENSG00000116726	ENST00000357726	T	0.17213	2.29	2.8	-2.5	0.06384	.	3.019180	0.01114	N	0.005651	T	0.22704	0.0548	L	0.42581	1.335	0.09310	N	1	D	0.54207	0.965	P	0.54664	0.758	T	0.38887	-0.9640	10	0.10111	T	0.7	.	7.5906	0.28019	0.6577:0.0:0.3423:0.0	.	119	O95522	PRA12_HUMAN	S	119	ENSP00000350358:A119S	ENSP00000350358:A119S	A	+	1	0	PRAMEF12	12758340	0.001000	0.12720	0.001000	0.08648	0.166000	0.22503	-0.190000	0.09615	-0.686000	0.05170	-0.657000	0.03884	GCT		0.537	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		184	734	1	0	4.58104e-65	1	5.79144e-65	184	734				
SFI1	9814	broad.mit.edu	37	22	32014362	32014362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32014362C>T	ENST00000400288.2	+	33	3792	c.3687C>T	c.(3685-3687)gcC>gcT	p.A1229A	PISD_ENST00000478893.1_5'Flank|SFI1_ENST00000443326.1_Silent_p.A1147A|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000443011.1_Silent_p.A1076A|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000432498.1_Silent_p.A1198A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1229					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCATTGGCGCCTGCGTTGCCC	0.687																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(3592-3594)gcC>gcT		Sfi1 homolog, spindle assembly associated (yeast)							14.0	17.0	16.0					22																	32014362		1957	4127	6084	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32014362C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3687C>T	22.37:g.32014362C>T						SFI1_ENST00000443326.1_Silent_p.A1147A|SFI1_ENST00000443011.1_Silent_p.A1076A|SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000400288.2_Silent_p.A1229A	p.A1198A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			32	3987	+			1229					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.3594C>T	CCDS43004.1																																																																																				0.687	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		22	88	0	0	0	1	0	22	88				
PDXK	8566	broad.mit.edu	37	21	45173522	45173522	+	Silent	SNP	C	C	T	rs200762097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45173522C>T	ENST00000291565.4	+	9	864	c.681C>T	c.(679-681)gaC>gaT	p.D227D	PDXK_ENST00000467908.1_Silent_p.D187D|PDXK_ENST00000468090.1_Silent_p.D199D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	227					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GCAAAGTGGACGCCGTCTTTG	0.607													c|||	2	0.000399361	0.0	0.0	5008	,	,		21044	0.002		0.0	False		,,,				2504	0.0					ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(679-681)gaC>gaT		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)	T		1,4405	2.1+/-5.4	0,1,2202	212.0	161.0	178.0		681	-4.8	0.6	21		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDXK	NM_003681.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		227/313	45173522	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45173522C>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.681C>T	21.37:g.45173522C>T						PDXK_ENST00000468090.1_Silent_p.D199D|PDXK_ENST00000467908.1_Silent_p.D187D	p.D227D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	9	864	+			227					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.681C>T	CCDS13699.1																																																																																				0.607	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		26	186	0	0	0	1	0	26	186				
ZEB2	9839	broad.mit.edu	37	2	145155993	145155993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145155993G>A	ENST00000558170.2	-	8	3945	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	921					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGTATGGTCGTAGCCCAGGA	0.498																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107	GRCh37	CM052018	ZEB2	M		c.(2761-2763)Cga>Tga		zinc finger E-box binding homeobox 2							164.0	160.0	161.0					2																	145155993		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145155993G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2761C>T	2.37:g.145155993G>A	ENSP00000454157:p.Arg921*					ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*	p.R921*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3945	-			921					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.2761C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	39	7.517277	0.98332	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6124	15.7551	0.78018	0.0:0.0:0.863:0.137	.	.	.	.	X	897;921;921	.	ENSP00000302501:R921X	R	-	1	2	ZEB2	144872463	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.499000	0.53310	2.763000	0.94921	0.563000	0.77884	CGA		0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		58	601	0	0	0	1	0	58	601				
C8orf58	541565	broad.mit.edu	37	8	22458661	22458661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22458661G>A	ENST00000289989.5	+	2	381	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000409586.3_Missense_Mutation_p.A103T			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	103										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGAGCCCCCCGCCCAGGTAGG	0.657																																						ENST00000409586.3																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(307-309)Gcc>Acc		chromosome 8 open reading frame 58							12.0	16.0	15.0					8																	22458661		2178	4294	6472	SO:0001583	missense	541565							g.chr8:22458661G>A	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.307G>A	8.37:g.22458661G>A	ENSP00000289989:p.Ala103Thr					C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000289989.5_Missense_Mutation_p.A103T	p.A103T	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	427	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	103					B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	c.307G>A	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.753780	0.31046	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.91	1.93	0.25924	.	0.507370	0.16623	N	0.206407	T	0.33381	0.0861	M	0.63428	1.95	0.09310	N	1	P;D;P	0.62365	0.951;0.991;0.951	B;P;B	0.44518	0.32;0.452;0.32	T	0.26360	-1.0105	9	0.72032	D	0.01	-4.5702	5.0944	0.14725	0.1185:0.2122:0.6693:0.0	.	103;31;103	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	T	172;103;103;31	.	ENSP00000399696:A172T	A	+	1	0	AC037459.4;C8orf58	22514606	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.336000	0.19823	0.993000	0.38866	-0.406000	0.06334	GCC		0.657	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		22	125	0	0	0	1	0	22	125				
KIAA1244	57221	broad.mit.edu	37	6	138656299	138656299	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656299G>T	ENST00000251691.4	+	33	6482	c.6316G>T	c.(6316-6318)Gtg>Ttg	p.V2106L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGTGTCTCGGTGAGAGACGC	0.652																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(6316-6318)Gtg>Ttg		KIAA1244							13.0	14.0	14.0					6																	138656299		2201	4298	6499	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138656299G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6316G>T	6.37:g.138656299G>T	ENSP00000251691:p.Val2106Leu						p.V2106L	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	6482	+	Breast(32;0.135)		2106						Missense_Mutation	SNP	ENST00000251691.4	37	c.6316G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971814	0.18736	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.15952	2.38	5.76	4.89	0.63831	.	0.717553	0.14079	N	0.342873	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	10	0.20519	T	0.43	-28.9434	8.9898	0.36017	0.2707:0.0:0.7293:0.0	.	2106	Q5TH69	BIG3_HUMAN	L	2106;147	ENSP00000251691:V2106L	ENSP00000251691:V2106L	V	+	1	0	KIAA1244	138697992	0.501000	0.26099	0.002000	0.10522	0.968000	0.65278	2.325000	0.43840	1.434000	0.47414	0.511000	0.50034	GTG		0.652	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	53	1	0	2.0095e-06	1	2.07161e-06	6	53				
FSCB	84075	broad.mit.edu	37	14	44973805	44973805	+	Missense_Mutation	SNP	C	C	T	rs75354082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44973805C>T	ENST00000340446.4	-	1	2677	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	796						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTAGACAAATCTTTAAGGACA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18052	0.001		0.0	False		,,,				2504	0.0					ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2386-2388)Gat>Aat		fibrous sheath CABYR binding protein							73.0	79.0	77.0					14																	44973805		2202	4300	6502	SO:0001583	missense	84075					cilium		g.chr14:44973805C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2386G>A	14.37:g.44973805C>T	ENSP00000344579:p.Asp796Asn						p.D796N	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2677	-			796					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2386G>A	CCDS9679.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.86	2.662331	0.47572	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24908	1.83	3.52	0.672	0.17935	.	.	.	.	.	T	0.18130	0.0435	L	0.43152	1.355	0.09310	N	1	P	0.34639	0.461	B	0.28849	0.095	T	0.12889	-1.0530	9	0.44086	T	0.13	-6.0457	7.0159	0.24887	0.0:0.6676:0.0:0.3324	.	796	Q5H9T9	FSCB_HUMAN	N	796;689	ENSP00000344579:D796N	ENSP00000344579:D796N	D	-	1	0	FSCB	44043555	0.988000	0.35896	0.003000	0.11579	0.079000	0.17450	0.299000	0.19138	0.134000	0.18681	0.484000	0.47621	GAT		0.383	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		85	440	0	0	0	1	0	85	440				
GPR124	25960	broad.mit.edu	37	8	37691268	37691268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37691268G>A	ENST00000412232.2	+	10	1372	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	GPR124_ENST00000315215.7_Silent_p.E453E	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	453					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACACAGCCGAGGCCGCTAGCT	0.527																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1357-1359)gaG>gaA		G protein-coupled receptor 124							107.0	102.0	104.0					8																	37691268		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37691268G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1359G>A	8.37:g.37691268G>A						GPR124_ENST00000412232.2_Silent_p.E453E	p.E453E			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		10	1722	+			453					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1359G>A	CCDS6097.2																																																																																				0.527	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			96	369	0	0	0	1	0	96	369				
DRAXIN	374946	broad.mit.edu	37	1	11766593	11766593	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11766593C>A	ENST00000294485.5	+	2	413	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CTGCCAGAGGCTGAGGGGCTG	0.697																																						ENST00000294485.5																			0											c.(277-279)gCt>gAt		dorsal inhibitory axon guidance protein							11.0	14.0	13.0					1																	11766593		2191	4292	6483	SO:0001583	missense	374946							g.chr1:11766593C>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.278C>A	1.37:g.11766593C>A	ENSP00000294485:p.Ala93Asp						p.A93D	NM_198545.3	NP_940947.3					2	413	+									Missense_Mutation	SNP	ENST00000294485.5	37	c.278C>A	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	8.906	0.957444	0.18507	.	.	ENSG00000162490	ENST00000294485	T	0.46063	0.88	3.91	1.56	0.23342	.	0.797324	0.10784	N	0.634574	T	0.34571	0.0902	L	0.51422	1.61	0.09310	N	1	B	0.29716	0.255	B	0.34931	0.192	T	0.32052	-0.9921	10	0.30078	T	0.28	-0.5133	3.845	0.08931	0.0:0.4017:0.2742:0.3241	.	93	Q8NBI3	DRAXI_HUMAN	D	93	ENSP00000294485:A93D	ENSP00000294485:A93D	A	+	2	0	C1orf187	11689180	0.000000	0.05858	0.004000	0.12327	0.194000	0.23727	0.007000	0.13174	0.459000	0.27016	0.313000	0.20887	GCT		0.697	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		23	87	1	0	3.10358e-05	1	3.17146e-05	23	87				
SCN9A	6335	broad.mit.edu	37	2	167085266	167085266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167085266G>A	ENST00000409435.1	-	21	4140	c.4141C>T	c.(4141-4143)Cga>Tga	p.R1381*	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R1382*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R1382*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1381			Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel). {ECO:0000269|PubMed:20635406}.		behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTCCATCGCACATTTTGA	0.398																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4144-4146)Cga>Tga		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						209.0	206.0	207.0					2																	167085266		1911	4151	6062	SO:0001587	stop_gained	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085266G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4141C>T	2.37:g.167085266G>A	ENSP00000386330:p.Arg1381*					SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R1382*|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R1381*	p.R1382*			Q15858	SCN9A_HUMAN			22	4484	-			1381		Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel).			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonsense_Mutation	SNP	ENST00000409435.1	37	c.4144C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	45	12.055428	0.99631	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.23	2.35	0.29111	.	0.000000	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7708	0.69675	0.0:0.0:0.3767:0.6233	.	.	.	.	X	1370;1382;1382;1381	.	ENSP00000304748:R1382X	R	-	1	2	SCN9A	166793512	0.122000	0.22280	0.983000	0.44433	0.988000	0.76386	0.970000	0.29383	0.181000	0.19994	0.557000	0.71058	CGA		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		166	749	0	0	0	1	0	166	749				
ITIH6	347365	broad.mit.edu	37	X	54783606	54783606	+	Missense_Mutation	SNP	C	C	T	rs374080821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54783606C>T	ENST00000218436.6	-	8	2930	c.2901G>A	c.(2899-2901)atG>atA	p.M967I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	967	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGAGTAGGCTCATTGTTGGAA	0.587																																						ENST00000218436.6																			0											c.(2899-2901)atG>atA		inter-alpha-trypsin inhibitor heavy chain family, member 6		C	ILE/MET	0,3835		0,0,1632,571	108.0	95.0	100.0		2901	1.1	0.0	X		100	1,6727		0,1,2427,1872	no	missense	ITIH5L	NM_198510.2	10	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	967/1314	54783606	1,10562	2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783606C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2901G>A	X.37:g.54783606C>T	ENSP00000218436:p.Met967Ile						p.M967I	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2930	-			967			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2901G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.268	-0.994661	0.02145	0.0	1.49E-4	ENSG00000102313	ENST00000218436	T	0.02140	4.43	3.37	1.13	0.20643	.	3.939420	0.01482	U	0.016729	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45469	-0.9259	10	0.28530	T	0.3	.	5.3181	0.15866	0.0:0.6231:0.0:0.3769	.	967	Q6UXX5	ITH5L_HUMAN	I	967	ENSP00000218436:M967I	ENSP00000218436:M967I	M	-	3	0	ITIH5L	54800331	0.387000	0.25188	0.003000	0.11579	0.028000	0.11728	0.122000	0.15687	0.004000	0.14682	0.594000	0.82650	ATG		0.587	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		52	169	0	0	0	1	0	52	169				
TNRC18	84629	broad.mit.edu	37	7	5352415	5352415	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5352415C>A	ENST00000430969.1	-	27	8455	c.8107G>T	c.(8107-8109)Gcc>Tcc	p.A2703S	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2703S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2703							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTTGGTGGCCTTGGTGGGG	0.741																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8107-8109)Gcc>Tcc		trinucleotide repeat containing 18							5.0	7.0	6.0					7																	5352415		1478	3416	4894	SO:0001583	missense	84629						DNA binding	g.chr7:5352415C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8107G>T	7.37:g.5352415C>A	ENSP00000395538:p.Ala2703Ser					TNRC18_ENST00000430969.1_Missense_Mutation_p.A2703S	p.A2703S			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8455	-		Ovarian(82;0.142)	2703					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8107G>T	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	4.540|4.540	0.100286|0.100286	0.08731|0.08731	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.05996|.	3.36;3.36|.	4.54|4.54	2.4|2.4	0.29515|0.29515	.|.	.|0.426630	.|0.17361	.|N	.|0.177035	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.11421|0.11421	-1.0588|-1.0588	9|6	0.07644|.	T|.	0.81|.	.|.	7.7328|7.7328	0.28796|0.28796	0.1402:0.56:0.2999:0.0|0.1402:0.56:0.2999:0.0	.|.	2703|.	O15417|.	TNC18_HUMAN|.	S|S	2703|1215	ENSP00000382452:A2703S;ENSP00000395538:A2703S|.	ENSP00000382452:A2703S|.	A|R	-|-	1|3	0|2	TNRC18|TNRC18	5318941|5318941	0.019000|0.019000	0.18553|0.18553	0.491000|0.491000	0.27477|0.27477	0.111000|0.111000	0.19643|0.19643	0.547000|0.547000	0.23299|0.23299	2.022000|2.022000	0.59522|0.59522	0.484000|0.484000	0.47621|0.47621	GCC|AGG		0.741	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				12	100	1	0	2.23348e-06	1	2.30073e-06	12	100				
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744219C>T	ENST00000260126.4	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.S230S|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(688-690)tcG>tcA		solute carrier organic anion transporter family, member 5A1							30.0	36.0	34.0					8																	70744219		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744219C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.690G>A	8.37:g.70744219C>T						SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR	p.S230S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1396	-	Breast(64;0.0654)		230					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.690G>A	CCDS6205.1																																																																																				0.632	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		61	250	0	0	0	1	0	61	250				
PRAMEF1	65121	broad.mit.edu	37	1	12854270	12854270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854270G>T	ENST00000332296.7	+	3	597	c.494G>T	c.(493-495)aGa>aTa	p.R165I	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	165					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGCCTGAGATACCTCTTC	0.468																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(493-495)aGa>aTa		PRAME family member 1							106.0	109.0	108.0					1																	12854270		2197	4281	6478	SO:0001583	missense	65121							g.chr1:12854270G>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.494G>T	1.37:g.12854270G>T	ENSP00000332134:p.Arg165Ile						p.R165I	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	597	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	165					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.494G>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.183	0.032520	0.08101	.	.	ENSG00000116721	ENST00000332296	T	0.04454	3.62	1.74	-3.49	0.04724	.	0.681446	0.14085	N	0.342416	T	0.01835	0.0058	N	0.03324	-0.35	0.09310	N	1	B	0.22909	0.077	B	0.19666	0.026	T	0.39292	-0.9621	10	0.51188	T	0.08	.	4.8258	0.13416	0.0:0.5477:0.1809:0.2714	.	165	O95521	PRAM1_HUMAN	I	165	ENSP00000332134:R165I	ENSP00000332134:R165I	R	+	2	0	PRAMEF1	12776857	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.077000	0.03416	-1.126000	0.02929	-2.386000	0.00229	AGA		0.468	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		141	1384	1	0	1.73933e-33	1	2.06204e-33	141	1384				
SLC25A45	283130	broad.mit.edu	37	11	65144076	65144076	+	Silent	SNP	G	G	A	rs17857132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65144076G>A	ENST00000527174.1	-	6	724	c.669C>T	c.(667-669)gaC>gaT	p.D223D	SLC25A45_ENST00000417511.2_Silent_p.D181D|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000398802.1_Silent_p.D223D|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000377152.2_Silent_p.D119D|SLC25A45_ENST00000360662.3_Silent_p.D199D|SLC25A45_ENST00000294187.6_Silent_p.D181D			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	223					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACTTGATCATGTCTAAGGGCG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17804	0.0		0.0	False		,,,				2504	0.0					ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(541-543)gaC>gaT		solute carrier family 25, member 45							79.0	83.0	82.0					11																	65144076		2149	4247	6396	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144076G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.669C>T	11.37:g.65144076G>A						SLC25A45_ENST00000294187.6_Silent_p.D181D|SLC25A45_ENST00000360662.3_Silent_p.D199D|SLC25A45_ENST00000398802.1_Silent_p.D223D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000377152.2_Silent_p.D119D|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000527174.1_Silent_p.D223D	p.D181D	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			10	1677	-			223					Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.543C>T	CCDS41670.1																																																																																				0.627	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		18	438	0	0	0	1	0	18	438				
LYG1	129530	broad.mit.edu	37	2	99909097	99909097	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909097G>T	ENST00000409448.1	-	5	366	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	17					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCTGCTTTCAGACAAGTCTAC	0.423																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(49-51)tCt>tAt		lysozyme G-like 1							128.0	117.0	121.0					2																	99909097		2203	4300	6503	SO:0001583	missense	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99909097G>T	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.50C>A	2.37:g.99909097G>T	ENSP00000386923:p.Ser17Tyr					LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y	p.S17Y			Q8N1E2	LYG1_HUMAN			5	366	-			17					Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	c.50C>A	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972393	0.34848	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.8	3.92	0.45320	.	0.526107	0.17509	N	0.171684	T	0.31040	0.0784	N	0.22421	0.69	0.24994	N	0.99152	P	0.43701	0.815	P	0.48840	0.592	T	0.06752	-1.0809	8	.	.	.	-6.9946	8.8058	0.34936	0.102:0.0:0.898:0.0	.	17	Q8N1E2	LYG1_HUMAN	Y	17	.	.	S	-	2	0	LYG1	99275529	0.872000	0.30054	0.663000	0.29738	0.167000	0.22549	2.662000	0.46766	1.251000	0.43983	-0.136000	0.14681	TCT		0.423	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		58	271	1	0	3.28156e-27	1	3.79657e-27	58	271				
ARHGEF1	9138	broad.mit.edu	37	19	42406492	42406492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42406492G>A	ENST00000354532.3	+	16	1631	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.V551M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	495	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATCGGAGACGTGCTGCTGGC	0.647																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1651-1653)Gtg>Atg		Rho guanine nucleotide exchange factor (GEF) 1							61.0	57.0	58.0					19																	42406492		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42406492G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1483G>A	19.37:g.42406492G>A	ENSP00000346532:p.Val495Met					ARHGEF1_ENST00000354532.3_Missense_Mutation_p.V495M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M	p.V551M			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	17	1776	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	495			DH.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.1651G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108719	0.56291	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.25	4.25	0.50352	Dbl homology (DH) domain (5);	0.250049	0.33272	N	0.005081	T	0.69726	0.3143	L	0.31294	0.92	0.31883	N	0.618257	P;D;D;D;P	0.89917	0.661;1.0;1.0;1.0;0.796	B;D;D;D;B	0.76575	0.387;0.973;0.97;0.988;0.31	T	0.72427	-0.4297	10	0.46703	T	0.11	-27.5557	10.6247	0.45500	0.0:0.1961:0.8039:0.0	.	154;477;510;462;495	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	M	495;462;510;477	ENSP00000346532:V495M;ENSP00000344429:V462M;ENSP00000337261:V510M;ENSP00000367394:V477M	ENSP00000337261:V510M	V	+	1	0	ARHGEF1	47098332	0.001000	0.12720	0.999000	0.59377	0.924000	0.55760	0.553000	0.23391	2.090000	0.63153	0.456000	0.33151	GTG		0.647	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		53	279	0	0	0	1	0	53	279				
DGKZ	8525	broad.mit.edu	37	11	46387834	46387834	+	Missense_Mutation	SNP	C	C	T	rs376212984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387834C>T	ENST00000454345.1	+	2	153	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	10					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGACATTTCCGGGGGAAGGT	0.677																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(28-30)Cgg>Tgg		diacylglycerol kinase, zeta		C	TRP/ARG,,,,,,	1,3663		0,1,1831	10.0	12.0	12.0		28,,,,,,	3.5	1.0	11		12	0,7850		0,0,3925	no	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	101,,,,,,	0,1,5756	TT,TC,CC		0.0,0.0273,0.0087	benign,,,,,,	10/1118,,,,,,	46387834	1,11513	1832	3925	5757	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46387834C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.28C>T	11.37:g.46387834C>T	ENSP00000412178:p.Arg10Trp					DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron	p.R10W	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	153	+			10					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.28C>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113186	0.37339	2.73E-4	0.0	ENSG00000149091	ENST00000454345	T	0.72942	-0.7	4.53	3.48	0.39840	.	0.514132	0.14134	N	0.339146	T	0.51160	0.1658	N	0.24115	0.695	0.80722	D	1	P	0.49635	0.926	B	0.36504	0.226	T	0.57596	-0.7784	10	0.72032	D	0.01	.	8.4214	0.32703	0.2481:0.6147:0.1372:0.0	.	10	Q13574	DGKZ_HUMAN	W	10	ENSP00000412178:R10W	ENSP00000412178:R10W	R	+	1	2	DGKZ	46344410	1.000000	0.71417	0.999000	0.59377	0.470000	0.32858	3.810000	0.55613	2.234000	0.73211	0.563000	0.77884	CGG		0.677	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		14	96	0	0	0	1	0	14	96				
OR2J3	442186	broad.mit.edu	37	6	29079778	29079778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079778C>A	ENST00000377169.1	+	1	111	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTGATCTTCTACTTGATGA	0.403																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(109-111)ttC>ttA		olfactory receptor, family 2, subfamily J, member 3							271.0	284.0	280.0					6																	29079778		1287	2580	3867	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079778C>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.111C>A	6.37:g.29079778C>A	ENSP00000366374:p.Phe37Leu						p.F37L	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	111	+			37					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.111C>A	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	4.259	0.047120	0.08243	.	.	ENSG00000204701	ENST00000377169	T	0.00625	6.14	2.78	2.78	0.32641	.	.	.	.	.	T	0.00210	0.0006	N	0.16903	0.455	0.26392	N	0.976556	B	0.17852	0.024	B	0.21151	0.033	T	0.43048	-0.9415	9	0.32370	T	0.25	.	5.3118	0.15835	0.0:0.6649:0.2122:0.1229	.	37	O76001	OR2J3_HUMAN	L	37	ENSP00000366374:F37L	ENSP00000366374:F37L	F	+	3	2	OR2J3	29187757	0.000000	0.05858	0.965000	0.40720	0.159000	0.22180	-0.819000	0.04462	1.549000	0.49425	0.436000	0.28706	TTC		0.403	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			261	976	1	0	1.14998e-99	1	1.47899e-99	261	976				
TTC3	7267	broad.mit.edu	37	21	38519880	38519880	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38519880T>C	ENST00000399017.2	+	22	4740	c.1993T>C	c.(1993-1995)Tac>Cac	p.Y665H	TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	665					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATCCAGATATACATAACTGA	0.368																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(1993-1995)Tac>Cac		tetratricopeptide repeat domain 3							115.0	111.0	112.0					21																	38519880		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38519880T>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1993T>C	21.37:g.38519880T>C	ENSP00000381981:p.Tyr665His					TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H	p.Y665H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			22	4740	+		Myeloproliferative disorder(46;0.0412)	665					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.1993T>C	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118059	0.77323	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.66099	1.63;-0.08;1.69;1.82;-0.19;1.82;1.82	4.88	4.88	0.63580	.	0.357825	0.24126	N	0.041314	T	0.70245	0.3202	L	0.32530	0.975	0.39491	D	0.968041	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.75121	-0.3429	10	0.87932	D	0	-14.1615	14.4552	0.67411	0.0:0.0:0.0:1.0	.	355;665	B4DSZ9;P53804	.;TTC3_HUMAN	H	665;665;647;665;355;665;665	ENSP00000403943:Y665H;ENSP00000408456:Y665H;ENSP00000391891:Y647H;ENSP00000347889:Y665H;ENSP00000442875:Y355H;ENSP00000381981:Y665H;ENSP00000346791:Y665H	ENSP00000346791:Y665H	Y	+	1	0	TTC3	37441750	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	6.518000	0.73764	1.951000	0.56629	0.528000	0.53228	TAC		0.368	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			84	342	0	0	0	1	0	84	342				
ZC3H14	79882	broad.mit.edu	37	14	89039209	89039209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89039209G>A	ENST00000251038.5	+	6	944	c.719G>A	c.(718-720)aGt>aAt	p.S240N	ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	240						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAGCAGAATAGTATTCATGCT	0.408																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(718-720)aGt>aAt		zinc finger CCCH-type containing 14							122.0	121.0	121.0					14																	89039209		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89039209G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.719G>A	14.37:g.89039209G>A	ENSP00000251038:p.Ser240Asn					ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N	p.S240N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			6	944	+			240					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.719G>A	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.728675|1.728675	0.30593|0.30593	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.92|5.92	3.1|3.1	0.35709|0.35709	.|.	0.147633|.	0.64402|.	D|.	0.000009|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.10685|0.10685	0.025|0.025	0.32355|0.32355	N|N	0.557954|0.557954	B;B;B;B;B;B|.	0.14012|.	0.001;0.003;0.001;0.001;0.009;0.001|.	B;B;B;B;B;B|.	0.16722|.	0.003;0.011;0.003;0.001;0.016;0.002|.	T|T	0.36237|0.36237	-0.9756|-0.9756	9|5	0.11794|.	T|.	0.64|.	-8.3463|-8.3463	11.4889|11.4889	0.50369|0.50369	0.2368:0.0:0.7632:0.0|0.2368:0.0:0.7632:0.0	.|.	240;221;240;240;240;240|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	N|I	240;240;240;206;240;221;240;85;206;240;240;206|156	.|.	ENSP00000251038:S240N|.	S|V	+|+	2|1	0|0	ZC3H14|ZC3H14	88108962|88108962	0.965000|0.965000	0.33210|0.33210	0.993000|0.993000	0.49108|0.49108	0.943000|0.943000	0.58893|0.58893	0.683000|0.683000	0.25349|0.25349	1.513000|1.513000	0.48852|0.48852	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.408	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		94	427	0	0	0	1	0	94	427				
GAPVD1	26130	broad.mit.edu	37	9	128099865	128099865	+	Nonsense_Mutation	SNP	G	G	T	rs202229222		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099865G>T	ENST00000495955.1	+	17	3162	c.2872G>T	c.(2872-2874)Gga>Tga	p.G958*	GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.G985*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.G932*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	958					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTCCTCAAGAGGAGAGGTATG	0.443																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2872-2874)Gga>Tga		GTPase activating protein and VPS9 domains 1							58.0	59.0	59.0					9																	128099865		2203	4300	6503	SO:0001587	stop_gained	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099865G>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2872G>T	9.37:g.128099865G>T	ENSP00000419063:p.Gly958*					GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.G932*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.G985*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.G937*	p.G958*			Q14C86	GAPD1_HUMAN			15	3032	+			958					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37	c.2872G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	43|43|43	10.267773|10.267773|10.267773	0.99371|0.99371|0.99371	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.|.	.|.|.	.|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	.|0.047947|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|T	0.82213|.|0.82213	0.4988|.|0.4988	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.82376|.|0.82376	-0.0488|.|-0.0488	3|.|4	.|0.66056|0.66056	.|D|D	.|0.02|0.02	.|.|.	19.8676|19.8676|19.8676	0.96824|0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|M	794|958;985;958;932;937;958;958;958;937|794	.|.|.	.|ENSP00000265956:G932X|ENSP00000391251:R794M	E|G|R	+|+|+	3|1|2	2|0|0	GAPVD1|GAPVD1|GAPVD1	127139686|127139686|127139686	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.421000|7.421000|7.421000	0.80204|0.80204|0.80204	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|AGG		0.443	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			41	230	1	0	2.77807e-22	1	3.14147e-22	41	230				
TRERF1	55809	broad.mit.edu	37	6	42231107	42231107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42231107G>A	ENST00000372922.4	-	8	2397	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	TRERF1_ENST00000541110.1_Missense_Mutation_p.A612V|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	612	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTGTCTCTGGCGGAGGGGGC	0.657																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(1834-1836)gCc>gTc		transcriptional regulating factor 1							60.0	65.0	64.0					6																	42231107		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231107G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1835C>T	6.37:g.42231107G>A	ENSP00000362013:p.Ala612Val					TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372922.4_Missense_Mutation_p.A612V|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron	p.A612V			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2403	-	Colorectal(47;0.196)		612			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.1835C>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877247	0.51801	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.10382	2.89;2.88	4.98	3.08	0.35506	.	0.491767	0.18777	N	0.131437	T	0.01627	0.0052	N	0.08118	0	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.15870	0.014;0.014	T	0.40232	-0.9574	10	0.24483	T	0.36	-11.838	6.3266	0.21246	0.0999:0.1854:0.7147:0.0	.	612;612	Q05GC8;Q96PN7	.;TREF1_HUMAN	V	612	ENSP00000439689:A612V;ENSP00000362013:A612V	ENSP00000362013:A612V	A	-	2	0	TRERF1	42339085	0.886000	0.30341	0.970000	0.41538	0.991000	0.79684	1.357000	0.34090	1.096000	0.41439	-0.254000	0.11334	GCC		0.657	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		97	461	0	0	0	1	0	97	461				
FRAS1	80144	broad.mit.edu	37	4	79343150	79343150	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79343150C>T	ENST00000325942.6	+	34	5114	c.4674C>T	c.(4672-4674)ttC>ttT	p.F1558F	FRAS1_ENST00000264895.6_Silent_p.F1558F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1558					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTTCTCGTTCGCTGGTAATG	0.567																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4672-4674)ttC>ttT		Fraser syndrome 1							107.0	117.0	114.0					4																	79343150		2073	4195	6268	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79343150C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4674C>T	4.37:g.79343150C>T						FRAS1_ENST00000325942.6_Silent_p.F1558F	p.F1558F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			34	5114	+			1557					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.4674C>T	CCDS54772.1																																																																																				0.567	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			26	741	0	0	0	1	0	26	741				
DOCK1	1793	broad.mit.edu	37	10	129202634	129202634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129202634C>T	ENST00000280333.6	+	40	4109	c.4000C>T	c.(4000-4002)Ccc>Tcc	p.P1334S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1334	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGTGATCAGGCCCAAGCCTGA	0.438																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4000-4002)Ccc>Tcc		dedicator of cytokinesis 1							65.0	66.0	66.0					10																	129202634		1870	4105	5975	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129202634C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4000C>T	10.37:g.129202634C>T	ENSP00000280333:p.Pro1334Ser						p.P1334S	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	40	4109	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1334			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4000C>T		.	.	.	.	.	.	.	.	.	.	C	25.8	4.673705	0.88445	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.999	P;D;D	0.76575	0.826;0.988;0.952	T	0.01545	-1.1328	10	0.26408	T	0.33	.	18.8174	0.92081	0.0:1.0:0.0:0.0	.	1334;1400;1334	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	S	1334	ENSP00000280333:P1334S	ENSP00000280333:P1334S	P	+	1	0	DOCK1	129092624	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.529000	0.81952	2.746000	0.94184	0.655000	0.94253	CCC		0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		24	122	0	0	0	1	0	24	122				
BTBD2	55643	broad.mit.edu	37	19	1990071	1990071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1990071C>T	ENST00000255608.4	-	5	936	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	307				R -> L (in Ref. 6; CAB96527). {ECO:0000305}.		cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAACCTTCCGCCTGTTCTC	0.637																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(919-921)cGg>cAg		BTB (POZ) domain containing 2							50.0	45.0	47.0					19																	1990071		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1990071C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.920G>A	19.37:g.1990071C>T	ENSP00000255608:p.Arg307Gln					AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	p.R307Q	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	936	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	307	R -> L (in Ref. 6; CAB96527).				O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.920G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.870013	0.72065	.	.	ENSG00000133243	ENST00000255608	T	0.68331	-0.32	4.23	3.19	0.36642	BTB/Kelch-associated (2);	0.056295	0.64402	D	0.000003	T	0.70945	0.3282	M	0.79805	2.47	0.53005	D	0.999964	P	0.43578	0.811	P	0.46208	0.507	T	0.72151	-0.4377	10	0.44086	T	0.13	-26.2441	11.1606	0.48514	0.0:0.9091:0.0:0.0909	.	307	Q9BX70	BTBD2_HUMAN	Q	307	ENSP00000255608:R307Q	ENSP00000255608:R307Q	R	-	2	0	BTBD2	1941071	1.000000	0.71417	0.947000	0.38551	0.648000	0.38561	4.679000	0.61649	0.998000	0.38996	0.549000	0.68633	CGG		0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			5	213	0	0	0	1	0	5	213				
SLC35F1	222553	broad.mit.edu	37	6	118475773	118475773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118475773C>T	ENST00000360388.4	+	2	540	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	113					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCACACTAGCCGTCAGACAAG	0.408																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(337-339)gcC>gcT		solute carrier family 35, member F1							147.0	144.0	145.0					6																	118475773		2203	4300	6503	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118475773C>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.339C>T	6.37:g.118475773C>T							p.A113A	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	540	+			113					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.339C>T	CCDS34524.1																																																																																				0.408	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		114	571	0	0	0	1	0	114	571				
WNK4	65266	broad.mit.edu	37	17	40947651	40947651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40947651C>T	ENST00000246914.5	+	16	3052	c.3031C>T	c.(3031-3033)Ccg>Tcg	p.P1011S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1011					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGAGGGAAAGCCGCAGCTTGT	0.557																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(3031-3033)Ccg>Tcg		WNK lysine deficient protein kinase 4							79.0	79.0	79.0					17																	40947651		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947651C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3031C>T	17.37:g.40947651C>T	ENSP00000246914:p.Pro1011Ser						p.P1011S	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	16	3052	+		Breast(137;0.000143)	1011					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3031C>T	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489984	0.44249	.	.	ENSG00000126562	ENST00000246914	D	0.83075	-1.68	5.75	5.75	0.90469	.	0.000000	0.47455	D	0.000223	D	0.82277	0.5002	L	0.42245	1.32	0.80722	D	1	P;P	0.51537	0.946;0.787	P;B	0.46253	0.509;0.158	D	0.84168	0.0432	10	0.66056	D	0.02	-22.9051	18.1118	0.89538	0.0:1.0:0.0:0.0	.	1011;1011	Q96J92-3;Q96J92	.;WNK4_HUMAN	S	1011	ENSP00000246914:P1011S	ENSP00000246914:P1011S	P	+	1	0	WNK4	38201177	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.574000	0.46016	2.720000	0.93068	0.491000	0.48974	CCG		0.557	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			73	329	0	0	0	1	0	73	329				
RSL24D1	51187	broad.mit.edu	37	15	55483181	55483181	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55483181T>A	ENST00000260443.4	-	3	436	c.260A>T	c.(259-261)aAt>aTt	p.N87I	RSL24D1_ENST00000565854.1_5'Flank	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	87					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						ACTAGTTTTATTCCATAGCTC	0.313																																						ENST00000260443.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						c.(259-261)aAt>aTt		ribosomal L24 domain containing 1							107.0	105.0	106.0					15																	55483181		2193	4289	6482	SO:0001583	missense	51187				ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome	g.chr15:55483181T>A	AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"""chromosome 15 open reading frame 15"""	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.260A>T	15.37:g.55483181T>A	ENSP00000260443:p.Asn87Ile						p.N87I	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN			3	436	-			87					B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Missense_Mutation	SNP	ENST00000260443.4	37	c.260A>T	CCDS10152.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083419	0.36758	.	.	ENSG00000137876	ENST00000260443	.	.	.	4.99	2.61	0.31194	.	0.365309	0.34067	N	0.004288	T	0.37348	0.1000	L	0.38175	1.15	0.39358	D	0.965879	P	0.40398	0.716	B	0.37833	0.259	T	0.11203	-1.0597	9	0.35671	T	0.21	-35.9334	7.1273	0.25479	0.0:0.1844:0.0:0.8156	.	87	Q9UHA3	RLP24_HUMAN	I	87	.	ENSP00000260443:N87I	N	-	2	0	RSL24D1	53270473	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.726000	0.25984	0.316000	0.23135	-0.290000	0.09829	AAT		0.313	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254916.1	NM_016304		28	130	0	0	0	1	0	28	130				
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1325	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1323D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCCTGGGGCTGGCCTTTTT	0.522																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.A1323D(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3973-3975)gCt>gAt		ryanodine receptor 2 (cardiac)							103.0	101.0	101.0					1																	237754106		1921	4130	6051	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754106C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3974C>A	1.37:g.237754106C>A	ENSP00000355533:p.Ala1325Asp					RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D	p.A1325D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4291	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1325			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3974C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.359127	0.61403	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.23	5.23	0.72850	.	0.561410	0.15324	N	0.268379	D	0.92622	0.7656	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.86901	0.2054	10	0.25751	T	0.34	.	19.3556	0.94412	0.0:1.0:0.0:0.0	.	1325	Q92736	RYR2_HUMAN	D	1325;1323;1309	ENSP00000355533:A1325D;ENSP00000353174:A1323D;ENSP00000443798:A1309D	ENSP00000353174:A1323D	A	+	2	0	RYR2	235820729	0.063000	0.20901	0.047000	0.18901	0.981000	0.71138	3.020000	0.49643	2.882000	0.98803	0.655000	0.94253	GCT		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		180	454	1	0	2.27171e-66	1	2.87454e-66	180	454				
PTPDC1	138639	broad.mit.edu	37	9	96846893	96846893	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846893C>T	ENST00000375360.3	+	3	422				PTPDC1_ENST00000288976.3_Silent_p.T27T	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGCACTCCACCTCAGACCCAG	0.682																																						ENST00000288976.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(79-81)acC>acT		protein tyrosine phosphatase domain containing 1							31.0	34.0	33.0					9																	96846893		2200	4296	6496	SO:0001627	intron_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96846893C>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.83-640C>T	9.37:g.96846893C>T						PTPDC1_ENST00000375360.3_Intron	p.T27T	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN			1	148	+			0	K -> T (in Ref. 1; AAO13168).				Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	c.81C>T	CCDS6707.1																																																																																				0.682	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		83	340	0	0	0	1	0	83	340				
PEX7	5191	broad.mit.edu	37	6	137191085	137191085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137191085G>A	ENST00000318471.4	+	7	772	c.691G>A	c.(691-693)Gta>Ata	p.V231I	PEX7_ENST00000541292.1_Missense_Mutation_p.V231I	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	231					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CTTAAGGAATGTACGACAACC	0.363																																						ENST00000541292.1																			0				lung(7)|prostate(1)	8						c.(691-693)Gta>Ata		peroxisomal biogenesis factor 7							248.0	249.0	249.0					6																	137191085		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137191085G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.691G>A	6.37:g.137191085G>A	ENSP00000315680:p.Val231Ile					PEX7_ENST00000318471.4_Missense_Mutation_p.V231I	p.V231I			O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	7	777	+	Colorectal(23;0.24)		231					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.691G>A	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274149	0.23221	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.81078	-1.45;-1.45	5.84	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.393088	0.27807	N	0.017771	T	0.47229	0.1434	N	0.20401	0.57	0.31429	N	0.673373	B	0.02656	0.0	B	0.01281	0.0	T	0.25641	-1.0126	10	0.22109	T	0.4	-31.2596	10.1468	0.42769	0.2279:0.0:0.7721:0.0	.	231	O00628	PEX7_HUMAN	I	231	ENSP00000441004:V231I;ENSP00000315680:V231I	ENSP00000315680:V231I	V	+	1	0	PEX7	137232778	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.641000	0.37197	1.456000	0.47831	0.591000	0.81541	GTA		0.363	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		101	1144	0	0	0	1	0	101	1144				
RAB8B	51762	broad.mit.edu	37	15	63551873	63551873	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63551873C>T	ENST00000321437.4	+	6	618	c.462C>T	c.(460-462)tcC>tcT	p.S154S	RAB8B_ENST00000448330.2_Silent_p.S154S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	154					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GCGCAAAATCCAGTGCAAATG	0.398																																						ENST00000321437.4																			0				kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(460-462)tcC>tcT		RAB8B, member RAS oncogene family							99.0	99.0	99.0					15																	63551873		2203	4300	6503	SO:0001819	synonymous_variant	51762				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr15:63551873C>T	AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"""RAB, member RAS oncogene"""	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.462C>T	15.37:g.63551873C>T						RAB8B_ENST00000448330.2_Silent_p.S154S	p.S154S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN			6	618	+			154					Q5JPC4|Q9P293	Silent	SNP	ENST00000321437.4	37	c.462C>T	CCDS10183.1																																																																																				0.398	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		33	189	0	0	0	1	0	33	189				
SCLY	51540	broad.mit.edu	37	2	238990418	238990418	+	Missense_Mutation	SNP	C	C	T	rs140009501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990418C>T	ENST00000555827.1	+	5	617	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	SCLY_ENST00000409736.2_Missense_Mutation_p.R185C|SCLY_ENST00000254663.6_Missense_Mutation_p.R193C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C			Q96I15	SCLY_HUMAN	selenocysteine lyase	185					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGCGGCAGTCCGCCCGACCAC	0.577																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(577-579)Cgc>Tgc		selenocysteine lyase		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	91.0	97.0		577	5.8	1.0	2	dbSNP_134	97	0,8600		0,0,4300	no	missense	SCLY	NM_016510.5	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	193/454	238990418	1,13005	2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238990418C>T	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.553C>T	2.37:g.238990418C>T	ENSP00000450613:p.Arg185Cys					SCLY_ENST00000409736.2_Missense_Mutation_p.R185C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C|SCLY_ENST00000555827.1_Missense_Mutation_p.R185C	p.R193C	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	5	719	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	185					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.577C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026472|3.026472	0.54683|0.54683	2.27E-4|2.27E-4	0.0|0.0	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;D;T;T;T	.|0.87334	.|1.87;1.87;1.45;-2.24;1.45;1.87;1.45	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91078|0.91078	0.7192|0.7192	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.45283	.|0.855;0.745;0.833	.|B;B;B	.|0.40410	.|0.188;0.328;0.17	D|D	0.93015|0.93015	0.6435|0.6435	5|10	.|0.87932	.|D	.|0	-17.0765|-17.0765	18.9105|18.9105	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;185;185	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	L|C	28|193;185;103;99;185;91;15	.|ENSP00000254663:R193C;ENSP00000450613:R185C;ENSP00000362429:R103C;ENSP00000414165:R99C;ENSP00000387162:R185C;ENSP00000416865:R91C;ENSP00000414053:R15C	.|ENSP00000254663:R185C	P|R	+|+	2|1	0|0	SCLY|SCLY	238655157|238655157	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.064000|0.064000	0.16182|0.16182	3.095000|3.095000	0.50235|0.50235	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.577	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		66	326	0	0	0	1	0	66	326				
F5	2153	broad.mit.edu	37	1	169511289	169511289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169511289C>T	ENST00000367797.3	-	13	3240	c.3039G>A	c.(3037-3039)caG>caA	p.Q1013Q	F5_ENST00000367796.3_Silent_p.Q1018Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1013	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCCTCCATCCTGTCTTACTT	0.448																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3052-3054)caG>caA		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						168.0	179.0	175.0					1																	169511289		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511289C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3039G>A	1.37:g.169511289C>T						F5_ENST00000367797.3_Silent_p.Q1013Q	p.Q1018Q			P12259	FA5_HUMAN			13	3255	-	all_hematologic(923;0.208)		1013			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.3054G>A	CCDS1281.1																																																																																				0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		324	1040	0	0	0	1	0	324	1040				
PLEKHH2	130271	broad.mit.edu	37	2	43973084	43973084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43973084G>A	ENST00000282406.4	+	24	3745	c.3635G>A	c.(3634-3636)cGt>cAt	p.R1212H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1212	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGACTGTTCGTCTGACATAC	0.373																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3634-3636)cGt>cAt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							70.0	64.0	66.0					2																	43973084		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43973084G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3635G>A	2.37:g.43973084G>A	ENSP00000282406:p.Arg1212His						p.R1212H	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			24	3745	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1212			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3635G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102805	0.76983	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.74	5.74	0.90152	Band 4.1 domain (1);FERM domain (1);	0.052470	0.85682	D	0.000000	T	0.74107	0.3673	M	0.74258	2.255	0.58432	D	0.999995	D	0.89917	1.0	D	0.75020	0.985	T	0.75345	-0.3350	10	0.66056	D	0.02	-19.9695	19.9186	0.97074	0.0:0.0:1.0:0.0	.	1212	Q8IVE3	PKHH2_HUMAN	H	1212	ENSP00000282406:R1212H	ENSP00000282406:R1212H	R	+	2	0	PLEKHH2	43826588	1.000000	0.71417	0.933000	0.37362	0.688000	0.40055	5.197000	0.65141	2.716000	0.92895	0.557000	0.71058	CGT		0.373	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		34	137	0	0	0	1	0	34	137				
PCDH12	51294	broad.mit.edu	37	5	141335130	141335130	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335130G>A	ENST00000231484.3	-	1	3497	c.2287C>T	c.(2287-2289)Ccc>Tcc	p.P763S	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	763					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCTTGGGCTGCTGGCGG	0.587																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2287-2289)Ccc>Tcc		protocadherin 12							64.0	54.0	58.0					5																	141335130		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335130G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2287C>T	5.37:g.141335130G>A	ENSP00000231484:p.Pro763Ser						p.P763S	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3497	-		all_hematologic(541;0.0999)	763					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2287C>T	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892165	0.72524	.	.	ENSG00000113555	ENST00000231484	T	0.52983	0.64	4.9	4.9	0.64082	.	0.062472	0.64402	D	0.000004	T	0.65842	0.2730	M	0.73962	2.25	0.50813	D	0.999894	D	0.69078	0.997	D	0.64042	0.921	T	0.66073	-0.6014	10	0.41790	T	0.15	.	15.6181	0.76784	0.0:0.0:1.0:0.0	.	763	Q9NPG4	PCD12_HUMAN	S	763	ENSP00000231484:P763S	ENSP00000231484:P763S	P	-	1	0	PCDH12	141315314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.263000	0.95617	2.571000	0.86741	0.561000	0.74099	CCC		0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		51	248	0	0	0	1	0	51	248				
SHMT2	6472	broad.mit.edu	37	12	57626358	57626358	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626358G>T	ENST00000328923.3	+	6	1169	c.717G>T	c.(715-717)gaG>gaT	p.E239D	SHMT2_ENST00000449049.3_Splice_Site_p.E218D|SHMT2_ENST00000553474.1_Splice_Site_p.E218D|SHMT2_ENST00000557487.1_Splice_Site_p.E229D|SHMT2_ENST00000414700.3_Splice_Site_p.E218D|SHMT2_ENST00000393827.4_Splice_Site_p.E143D	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	239					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GCATGAGAGAGGTTGGTGGGG	0.667																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.e6+1		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						58.0	66.0	63.0					12																	57626358		2203	4300	6503	SO:0001630	splice_region_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626358G>T	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.717+1G>T	12.37:g.57626358G>T						SHMT2_ENST00000414700.3_Splice_Site_p.E218_splice|SHMT2_ENST00000393827.4_Splice_Site_p.E143_splice|SHMT2_ENST00000449049.3_Splice_Site_p.E218_splice|SHMT2_ENST00000553474.1_Splice_Site_p.E218_splice|SHMT2_ENST00000557487.1_Splice_Site_p.E229_splice	p.E239_splice	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			6	1169	+			239					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Splice_Site	SNP	ENST00000328923.3	37	c.717_splice	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.183758|4.183758	0.78677|0.78677	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T;T|.	0.50001|.	1.29;0.76;0.76;1.29;1.29;1.29;0.76|.	5.09|5.09	4.2|4.2	0.49525|0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.051686|.	0.85682|.	D|.	0.000000|.	T|T	0.69984|0.69984	0.3172|0.3172	M|M	0.66506|0.66506	2.035|2.035	0.54753|0.54753	D|D	0.999983|0.999983	P;B;B;P;B|.	0.45768|.	0.578;0.293;0.139;0.866;0.259|.	B;B;B;P;B|.	0.48873|.	0.388;0.297;0.12;0.593;0.174|.	T|T	0.70142|0.70142	-0.4953|-0.4953	10|5	0.59425|.	D|.	0.04|.	-0.8048|-0.8048	12.9784|12.9784	0.58549|0.58549	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	248;229;143;170;239|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	D|C	239;229;78;218;218;218;143|39	ENSP00000333667:E239D;ENSP00000452315:E229D;ENSP00000450930:E78D;ENSP00000406881:E218D;ENSP00000452419:E218D;ENSP00000413770:E218D;ENSP00000377413:E143D|.	ENSP00000333667:E239D|.	E|G	+|+	3|1	2|0	SHMT2|SHMT2	55912625|55912625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	8.000000|8.000000	0.88501|0.88501	1.522000|1.522000	0.49001|0.49001	0.563000|0.563000	0.77884|0.77884	GAG|GGT		0.667	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	Missense_Mutation	120	630	1	0	7.79355e-45	1	9.54326e-45	120	630				
TDRD5	163589	broad.mit.edu	37	1	179564779	179564779	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179564779G>A	ENST00000367614.1	+	4	1016	c.657G>A	c.(655-657)caG>caA	p.Q219Q	TDRD5_ENST00000444136.1_Silent_p.Q219Q|TDRD5_ENST00000294848.8_Silent_p.Q219Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	219					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTTTACCCAGCCATTTAGAA	0.393																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(655-657)caG>caA		tudor domain containing 5							55.0	57.0	56.0					1																	179564779		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179564779G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.657G>A	1.37:g.179564779G>A						TDRD5_ENST00000367614.1_Silent_p.Q219Q|TDRD5_ENST00000294848.8_Silent_p.Q219Q	p.Q219Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			4	907	+			219			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.657G>A	CCDS1332.1																																																																																				0.393	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		88	250	0	0	0	1	0	88	250				
PCDHA8	56140	broad.mit.edu	37	5	140221663	140221663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140221663G>A	ENST00000531613.1	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	253	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAATATTCGAAAACGCAGA	0.433																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(757-759)Gaa>Aaa									62.0	61.0	61.0					5																	140221663		2203	4299	6502	SO:0001583	missense	0							g.chr5:140221663G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.757G>A	5.37:g.140221663G>A	ENSP00000434655:p.Glu253Lys					PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.E253K	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	757	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.757G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174784	0.94807	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.76316	-1.01;-1.01	3.73	3.73	0.42828	Cadherin (4);Cadherin-like (1);	0.000000	0.37715	U	0.001967	D	0.93973	0.8070	H	0.99929	4.97	0.44168	D	0.99697	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97151	0.9831	10	0.87932	D	0	.	15.9435	0.79776	0.0:0.0:1.0:0.0	.	253;253	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	253	ENSP00000434655:E253K;ENSP00000367363:E253K	ENSP00000367363:E253K	E	+	1	0	PCDHA8	140201847	1.000000	0.71417	0.475000	0.27278	0.191000	0.23601	7.880000	0.87243	1.799000	0.52666	0.558000	0.71614	GAA		0.433	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		40	331	0	0	0	1	0	40	331				
LRIG3	121227	broad.mit.edu	37	12	59284508	59284508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59284508G>A	ENST00000320743.3	-	4	740	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	152					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGCTGCTAAGGTCCAAAGTT	0.383			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(454-456)Ctt>Ttt		leucine-rich repeats and immunoglobulin-like domains 3							91.0	91.0	91.0					12																	59284508		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59284508G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.454C>T	12.37:g.59284508G>A	ENSP00000326759:p.Leu152Phe					LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	p.L152F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		4	740	-			152					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.454C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678552	0.68042	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.30448	1.53;1.53;1.53	5.87	2.87	0.33458	.	0.000000	0.30085	N	0.010459	T	0.59348	0.2187	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.61535	-0.7043	9	.	.	.	.	8.8768	0.35350	0.4056:0.0:0.5944:0.0	.	92;152	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	92;152;59	ENSP00000368436:L92F;ENSP00000326759:L152F;ENSP00000449109:L59F	.	L	-	1	0	LRIG3	57570775	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.359000	0.44142	0.388000	0.25054	-0.302000	0.09304	CTT		0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		46	159	0	0	0	1	0	46	159				
POLE	5426	broad.mit.edu	37	12	133225918	133225918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225918G>T	ENST00000320574.5	-	31	4022	c.3979C>A	c.(3979-3981)Ctg>Atg	p.L1327M	POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1327					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGAAGGTCCAGGATGCTGCGG	0.662								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3979-3981)Ctg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							32.0	31.0	31.0					12																	133225918		2203	4299	6502	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225918G>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3979C>A	12.37:g.133225918G>T	ENSP00000322570:p.Leu1327Met					POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	p.L1327M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	31	4022	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1327					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3979C>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558197	0.45590	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.71	1.6	0.23607	.	0.066612	0.64402	N	0.000008	T	0.37785	0.1016	L	0.56396	1.775	0.45946	D	0.998771	B;B	0.21606	0.045;0.058	B;B	0.31245	0.126;0.059	T	0.17018	-1.0383	10	0.48119	T	0.1	.	6.7582	0.23526	0.2102:0.0:0.6645:0.1254	.	1300;1327	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1327;1338;1300;1107;304	ENSP00000322570:L1327M;ENSP00000406383:L1338M;ENSP00000445753:L1300M;ENSP00000442519:L1107M	ENSP00000322570:L1327M	L	-	1	2	POLE	131735991	1.000000	0.71417	0.662000	0.29724	0.744000	0.42396	3.979000	0.56888	0.282000	0.22254	-0.300000	0.09419	CTG		0.662	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		50	248	1	0	3.21987e-24	1	3.67739e-24	50	248				
CEP112	201134	broad.mit.edu	37	17	64171175	64171175	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64171175T>C	ENST00000392769.2	-	4	675	c.457A>G	c.(457-459)Act>Gct	p.T153A	CEP112_ENST00000535342.2_Missense_Mutation_p.T153A|CEP112_ENST00000537949.1_Missense_Mutation_p.T153A	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	153					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TAGACATCAGTTGGCGACTGT	0.373																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(457-459)Act>Gct		centrosomal protein 112kDa							167.0	152.0	157.0					17																	64171175		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:64171175T>C	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.457A>G	17.37:g.64171175T>C	ENSP00000376522:p.Thr153Ala					CEP112_ENST00000537949.1_Missense_Mutation_p.T153A|CEP112_ENST00000535342.2_Missense_Mutation_p.T153A	p.T153A	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			4	675	-			153					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.457A>G	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618009	0.28801	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.42131	0.98;0.98;0.98	5.46	-4.45	0.03546	.	1.129780	0.06523	N	0.739957	T	0.22003	0.0530	L	0.34521	1.04	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27971	-1.0058	10	0.06757	T	0.87	0.0314	3.0536	0.06177	0.0931:0.312:0.2819:0.313	.	153;153	F5GYE8;Q8N8E3	.;CE112_HUMAN	A	153	ENSP00000442784:T153A;ENSP00000376522:T153A;ENSP00000440775:T153A	ENSP00000376522:T153A	T	-	1	0	CEP112	61601637	0.024000	0.19004	0.000000	0.03702	0.687000	0.40016	-0.512000	0.06313	-0.820000	0.04318	-0.321000	0.08615	ACT		0.373	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		65	327	0	0	0	1	0	65	327				
KIF5A	3798	broad.mit.edu	37	12	57969516	57969516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57969516G>A	ENST00000455537.2	+	17	2273	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	667					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTTGAGCGATGAGCTGGCCAA	0.527																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(1999-2001)Gag>Aag		kinesin family member 5A							160.0	155.0	157.0					12																	57969516		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57969516G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1999G>A	12.37:g.57969516G>A	ENSP00000408979:p.Glu667Lys					KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	p.E667K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			17	2273	+			667					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1999G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416643	0.96092	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.84070	-1.8;-1.8	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.69823	2.125	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.58013	0.831;0.831	D	0.88780	0.3270	10	0.48119	T	0.1	.	16.2291	0.82321	0.0:0.0:1.0:0.0	.	578;667	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	667;578	ENSP00000408979:E667K;ENSP00000286452:E578K	ENSP00000286452:E578K	E	+	1	0	KIF5A	56255783	1.000000	0.71417	0.992000	0.48379	0.896000	0.52359	9.570000	0.98174	2.440000	0.82611	0.655000	0.94253	GAG		0.527	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		192	905	0	0	0	1	0	192	905				
RNF213	57674	broad.mit.edu	37	17	78335544	78335544	+	Missense_Mutation	SNP	G	G	T	rs146910347		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78335544G>T	ENST00000582970.1	+	39	11354	c.11211G>T	c.(11209-11211)aaG>aaT	p.K3737N	RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3737					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACTGCCCAAGAAGTTCGTGG	0.577																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11209-11211)aaG>aaT		ring finger protein 213							61.0	59.0	60.0					17																	78335544		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78335544G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11211G>T	17.37:g.78335544G>T	ENSP00000464087:p.Lys3737Asn					CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N	p.K3737N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		39	11354	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11211G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288165	0.23478	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23552	1.9	5.68	-0.755	0.11061	.	1.121610	0.06565	N	0.747374	T	0.20536	0.0494	L	0.54323	1.7	0.20196	N	0.999921	B;P	0.35656	0.418;0.514	B;B	0.29716	0.083;0.106	T	0.26360	-1.0105	10	0.45353	T	0.12	.	4.8917	0.13730	0.2001:0.1043:0.5889:0.1067	.	3786;1810	C9JCP4;Q63HN8	.;RN213_HUMAN	N	3737;3786;1810	ENSP00000338218:K1810N	ENSP00000338218:K1810N	K	+	3	2	RNF213	75950139	0.950000	0.32346	0.020000	0.16555	0.005000	0.04900	1.469000	0.35343	0.026000	0.15269	-0.140000	0.14226	AAG		0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		53	286	1	0	7.47603e-22	1	8.43918e-22	53	286				
BTNL3	10917	broad.mit.edu	37	5	180432639	180432639	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180432639A>G	ENST00000342868.6	+	8	1352	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTGTATTTCACATTCAATCC	0.498																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(1168-1170)Aca>Gca		butyrophilin-like 3							165.0	173.0	170.0					5																	180432639		2084	4206	6290	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432639A>G	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1168A>G	5.37:g.180432639A>G	ENSP00000341787:p.Thr390Ala						p.T390A	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1352	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	390			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.1168A>G	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	6.949	0.544902	0.13312	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.59906	0.23	3.0	-5.49	0.02584	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.31765	0.0807	N	0.02120	-0.675	0.09310	N	1	P;P	0.52463	0.953;0.798	P;B	0.54759	0.76;0.433	T	0.18023	-1.0350	9	0.07175	T	0.84	.	7.0513	0.25075	0.2235:0.0:0.6358:0.1407	.	356;390	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	A	390;356	ENSP00000341787:T390A	ENSP00000341787:T390A	T	+	1	0	BTNL3	180365245	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.079000	0.14782	-1.249000	0.02500	0.164000	0.16699	ACA		0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		107	270	0	0	0	1	0	107	270				
TRPM4	54795	broad.mit.edu	37	19	49713653	49713653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49713653G>A	ENST00000252826.5	+	21	3445	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K|TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1107	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCGGCCCTCGAGCATTTCCG	0.622																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3319-3321)Gag>Aag		transient receptor potential cation channel, subfamily M, member 4							19.0	22.0	21.0					19																	49713653		2200	4294	6494	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713653G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3319G>A	19.37:g.49713653G>A	ENSP00000252826:p.Glu1107Lys					TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K|TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K	p.E1107K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3445	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1107			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3319G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970452	0.34754	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.50548	0.74;0.74;0.74	4.51	-2.58	0.06228	.	13.009600	0.00166	N	0.000000	T	0.21674	0.0522	N	0.04373	-0.215	0.09310	N	1	B;B;B;B	0.18610	0.029;0.013;0.013;0.005	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.18241	-1.0343	10	0.08837	T	0.75	-9.0442	5.8779	0.18838	0.2718:0.4661:0.2621:0.0	.	753;933;962;1107	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	K	1107;962;753	ENSP00000252826:E1107K;ENSP00000407492:E962K;ENSP00000347944:E753K	ENSP00000252826:E1107K	E	+	1	0	TRPM4	54405465	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.756000	0.04777	-0.065000	0.13021	0.313000	0.20887	GAG		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		60	254	0	0	0	1	0	60	254				
CD4	920	broad.mit.edu	37	12	6927707	6927707	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6927707G>T	ENST00000011653.4	+	8	1535	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	426					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CGGCACCGAAGGGTGAGTAAC	0.602																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.e8+1		CD4 molecule							59.0	57.0	58.0					12																	6927707		2203	4300	6503	SO:0001630	splice_region_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6927707G>T	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1278+1G>T	12.37:g.6927707G>T							p.R426_splice	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			8	1535	+		Myeloproliferative disorder(1001;0.0122)	426					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Splice_Site	SNP	ENST00000011653.4	37	c.1278_splice	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606016	0.46527	.	.	ENSG00000010610	ENST00000011653	T	0.29655	1.56	4.23	2.16	0.27623	T cell CD4 receptor C-terminal region (1);	0.338377	0.29073	N	0.013235	T	0.47673	0.1458	M	0.77820	2.39	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.975	T	0.43130	-0.9410	10	0.49607	T	0.09	-17.5898	3.7669	0.08626	0.1334:0.0:0.6051:0.2615	.	247;426	B0AZV7;P01730	.;CD4_HUMAN	M	426	ENSP00000011653:R426M	ENSP00000011653:R426M	R	+	2	0	CD4	6797968	0.291000	0.24352	0.793000	0.32043	0.522000	0.34438	0.157000	0.16402	0.944000	0.37579	0.561000	0.74099	AGG		0.602	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616	Missense_Mutation	45	233	1	0	3.86236e-30	1	4.52529e-30	45	233				
FASLG	356	broad.mit.edu	37	1	172634947	172634947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172634947A>G	ENST00000367721.2	+	4	821	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	213					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAAGGTCTACATGAGGAACTC	0.512																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(637-639)Atg>Gtg		Fas ligand (TNF superfamily, member 6)							113.0	108.0	109.0					1																	172634947		2203	4300	6503	SO:0001583	missense	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172634947A>G	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.637A>G	1.37:g.172634947A>G	ENSP00000356694:p.Met213Val					FASLG_ENST00000340030.3_3'UTR	p.M213V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			4	821	+			213					Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	c.637A>G	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	A	4.303	0.055528	0.08291	.	.	ENSG00000117560	ENST00000367721	D	0.94330	-3.4	5.02	2.64	0.31445	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.431289	0.26715	N	0.022880	T	0.71745	0.3376	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.63752	-0.6566	10	0.35671	T	0.21	-5.2216	6.2711	0.20955	0.7791:0.0:0.0793:0.1416	.	213	P48023	TNFL6_HUMAN	V	213	ENSP00000356694:M213V	ENSP00000356694:M213V	M	+	1	0	FASLG	170901570	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	1.143000	0.31553	0.333000	0.23563	-0.263000	0.10527	ATG		0.512	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			88	496	0	0	0	1	0	88	496				
KRT86	3892	broad.mit.edu	37	12	52702259	52702259	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52702259A>G	ENST00000423955.2	+	11	1529	c.1351A>G	c.(1351-1353)Acc>Gcc	p.T451A	KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Missense_Mutation_p.T451A			O43790	KRT86_HUMAN	keratin 86	451	Tail.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGTCTCCACCAGAGTCAG	0.667																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(1351-1353)Acc>Gcc		keratin 86							22.0	27.0	26.0					12																	52702259		2199	4295	6494	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52702259A>G	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1351A>G	12.37:g.52702259A>G	ENSP00000444533:p.Thr451Ala					KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|KRT86_ENST00000423955.2_Missense_Mutation_p.T451A	p.T451A	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1403	+			451			Tail.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.1351A>G	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220419	0.22457	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.81247	-1.47;-1.47;-1.47	5.42	-0.186	0.13272	.	0.281067	0.25225	U	0.032219	T	0.64605	0.2613	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.22109	T	0.4	.	8.6059	0.33773	0.6135:0.0:0.3865:0.0	.	451	O43790	KRT86_HUMAN	A	451	ENSP00000443169:T451A;ENSP00000444533:T451A;ENSP00000293525:T451A	ENSP00000293525:T451A	T	+	1	0	AC021066.1;KRT86	50988526	0.000000	0.05858	0.308000	0.25141	0.577000	0.36160	-0.796000	0.04575	0.016000	0.14998	-0.379000	0.06801	ACC		0.667	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		38	174	0	0	0	1	0	38	174				
TRIP6	7205	broad.mit.edu	37	7	100470363	100470363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470363C>T	ENST00000200457.4	+	8	1656	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000457580.2_5'Flank|SRRT_ENST00000388793.4_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	432	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTACAAGTGCGAGGTCAGGG	0.577																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(1294-1296)tgC>tgT		thyroid hormone receptor interactor 6							91.0	73.0	79.0					7																	100470363		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100470363C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1296C>T	7.37:g.100470363C>T							p.C432C	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			8	1656	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		432			LIM zinc-binding 3.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.1296C>T	CCDS5708.1																																																																																				0.577	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		12	318	0	0	0	1	0	12	318				
FBN1	2200	broad.mit.edu	37	15	48905247	48905247	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48905247A>G	ENST00000316623.5	-	3	662	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	69					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCCATCCAGGGCAACAGT	0.383																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(205-207)ccT>ccC		fibrillin 1							143.0	140.0	141.0					15																	48905247		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48905247A>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.207T>C	15.37:g.48905247A>G							p.P69P	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	3	662	-		all_lung(180;0.00279)	69					B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.207T>C	CCDS32232.1																																																																																				0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			75	326	0	0	0	1	0	75	326				
FXYD5	53827	broad.mit.edu	37	19	35657206	35657206	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35657206C>T	ENST00000342879.3	+	7	1243	c.465C>T	c.(463-465)atC>atT	p.I155I	FXYD5_ENST00000423817.3_Silent_p.I155I|FXYD5_ENST00000588699.1_Silent_p.I155I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000543307.1_Silent_p.I155I|FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000541435.2_Silent_p.I155I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Silent_p.I155I			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	155					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCTGTTCATCACAGGCATCA	0.557																																						ENST00000342879.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(463-465)atC>atT		FXYD domain containing ion transport regulator 5							145.0	148.0	147.0					19																	35657206		2203	4300	6503	SO:0001819	synonymous_variant	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35657206C>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.465C>T	19.37:g.35657206C>T						FXYD5_ENST00000392219.2_Silent_p.I155I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000541435.2_Silent_p.I155I|FXYD5_ENST00000588699.1_Silent_p.I155I|FXYD5_ENST00000543307.1_Silent_p.I155I|FXYD5_ENST00000423817.3_Silent_p.I155I	p.I155I			Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		7	1243	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		155					B7WNZ8|Q6UW44|Q9HC34|Q9P039	Silent	SNP	ENST00000342879.3	37	c.465C>T	CCDS12447.1																																																																																				0.557	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		14	891	0	0	0	1	0	14	891				
EPHA5	2044	broad.mit.edu	37	4	66217294	66217294	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66217294A>G	ENST00000273854.3	-	14	2921	c.2321T>C	c.(2320-2322)gTg>gCg	p.V774A	EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A|EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGCTGAATCACAGTGAACTG	0.423										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2320-2322)gTg>gCg		EPH receptor A5							103.0	92.0	96.0					4																	66217294		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66217294A>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2321T>C	4.37:g.66217294A>G	ENSP00000273854:p.Val774Ala	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A|EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A	p.V774A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			14	2921	-			774			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2321T>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702208	0.88924	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000103	T	0.62319	0.2418	N	0.05383	-0.06	0.80722	D	1	P;D;P;D	0.63880	0.91;0.992;0.89;0.993	P;D;P;D	0.69142	0.846;0.962;0.761;0.916	T	0.69435	-0.5146	10	0.49607	T	0.09	.	16.0287	0.80560	1.0:0.0:0.0:0.0	.	753;775;752;774	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	774;611;752;775	ENSP00000273854:V774A;ENSP00000389208:V611A;ENSP00000346899:V752A;ENSP00000427638:V775A	ENSP00000273854:V774A	V	-	2	0	EPHA5	65899889	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.497000	0.81536	2.202000	0.70862	0.477000	0.44152	GTG		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		49	264	0	0	0	1	0	49	264				
SRP68	6730	broad.mit.edu	37	17	74060107	74060107	+	Missense_Mutation	SNP	G	G	A	rs144739272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060107G>A	ENST00000307877.2	-	4	672	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SRP68_ENST00000539137.1_Missense_Mutation_p.R133C|SRP68_ENST00000355113.5_Missense_Mutation_p.R70C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	171					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCACACAAGCGTTCCAATTCC	0.468																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(511-513)Cgc>Tgc		signal recognition particle 68kDa							173.0	158.0	163.0					17																	74060107		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74060107G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.511C>T	17.37:g.74060107G>A	ENSP00000312066:p.Arg171Cys					SRP68_ENST00000355113.5_Missense_Mutation_p.R70C|SRP68_ENST00000539137.1_Missense_Mutation_p.R133C	p.R171C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			4	672	-			171					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.511C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449076	0.84101	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.094954	0.64402	D	0.000002	T	0.67306	0.2879	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.56700	0.736;0.804	T	0.68573	-0.5373	9	0.62326	D	0.03	-14.7833	15.7708	0.78167	0.0:0.0:0.8555:0.1445	.	133;171	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	133;171;171;171;70	.	ENSP00000307756:R171C	R	-	1	0	SRP68	71571702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.615000	0.61190	2.753000	0.94483	0.585000	0.79938	CGC		0.468	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		99	456	0	0	0	1	0	99	456				
IRF6	3664	broad.mit.edu	37	1	209965773	209965773	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209965773C>T	ENST00000367021.3	-	6	681		c.e6-1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537										HNSCC(57;0.16)																												ENST00000367021.3																			2	Unknown(2)	p.?(2)	lung(2)	cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.e6-1		interferon regulatory factor 6							60.0	54.0	56.0					1																	209965773		2203	4300	6503	SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209965773C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.509-1G>A	1.37:g.209965773C>T		HNSCC(57;0.16)				IRF6_ENST00000542854.1_Splice_Site		NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	6	681	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	SNP	ENST00000367021.3	37		CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001223	0.74818	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRF6	208032396	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.218000	0.72224	2.654000	0.90174	0.563000	0.77884	.		0.537	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Intron	46	181	0	0	0	1	0	46	181				
SMCHD1	23347	broad.mit.edu	37	18	2707808	2707808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2707808C>T	ENST00000320876.6	+	17	2488	c.2150C>T	c.(2149-2151)gCg>gTg	p.A717V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	717					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTCATAGGTGCGTTAAGAATT	0.363																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2149-2151)gCg>gTg		structural maintenance of chromosomes flexible hinge domain containing 1							31.0	32.0	32.0					18																	2707808		1803	4063	5866	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2707808C>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2150C>T	18.37:g.2707808C>T	ENSP00000326603:p.Ala717Val					SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	p.A717V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			17	2488	+			717					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.2150C>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018495	0.35606	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.26	5.26	0.73747	.	0.071383	0.56097	D	0.000036	T	0.24160	0.0585	N	0.24115	0.695	0.34705	D	0.727147	D	0.63046	0.992	P	0.45712	0.491	T	0.13818	-1.0495	10	0.35671	T	0.21	-15.1304	19.2255	0.93816	0.0:1.0:0.0:0.0	.	717	A6NHR9	SMHD1_HUMAN	V	717	ENSP00000326603:A717V;ENSP00000261598:A717V	ENSP00000261598:A717V	A	+	2	0	SMCHD1	2697808	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.910000	0.69931	2.589000	0.87451	0.563000	0.77884	GCG		0.363	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			13	54	0	0	0	1	0	13	54				
PHF1	5252	broad.mit.edu	37	6	33382914	33382914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382914C>T	ENST00000374516.3	+	12	1503	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_Silent_p.G407G	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	411					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGCAGAGGGCACTGCAGGTA	0.622											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1231-1233)gCa>gTa		PHD finger protein 1							61.0	60.0	61.0					6																	33382914		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382914C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1232C>T	6.37:g.33382914C>T	ENSP00000363640:p.Ala411Val		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.G407G	p.A411V	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			12	1503	+		Ovarian(999;0.0443)	411					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1232C>T	CCDS4777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.126797|2.126797	0.37533|0.37533	.|.	.|.	ENSG00000112511|ENSG00000112511	ENST00000374516|ENST00000427826	T|.	0.23950|.	1.88|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.24275|0.24275	0.0588|0.0588	N|N	0.14661|0.14661	0.345|0.345	0.33422|0.33422	D|D	0.580049|0.580049	D|.	0.57571|.	0.98|.	P|.	0.53988|.	0.739|.	T|T	0.14172|0.14172	-1.0482|-1.0482	10|6	0.15952|0.35671	T|T	0.53|0.21	-7.56|-7.56	13.3671|13.3671	0.60692|0.60692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411|.	O43189|.	PHF1_HUMAN|.	V|Y	411|25	ENSP00000363640:A411V|.	ENSP00000363640:A411V|ENSP00000404788:H25Y	A|H	+|+	2|1	0|0	PHF1|PHF1	33490892|33490892	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.765000|3.765000	0.55272|0.55272	2.537000|2.537000	0.85549|0.85549	0.462000|0.462000	0.41574|0.41574	GCA|CAC		0.622	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			64	343	0	0	0	1	0	64	343				
SIPA1L1	26037	broad.mit.edu	37	14	72085567	72085567	+	Missense_Mutation	SNP	C	C	T	rs550985365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72085567C>T	ENST00000555818.1	+	3	1940	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	531					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATGGATCTCCGTACAAC	0.403																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1591-1593)tCt>tTt		signal-induced proliferation-associated 1 like 1							95.0	94.0	95.0					14																	72085567		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72085567C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1592C>T	14.37:g.72085567C>T	ENSP00000450832:p.Ser531Phe					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F	p.S531F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	3	1940	+			531					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1592C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619053	0.28801	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	T;T;T;D;D	0.94184	-1.18;-1.17;-1.17;-1.96;-3.37	5.32	5.32	0.75619	.	0.109437	0.64402	D	0.000005	D	0.94231	0.8148	L	0.53249	1.67	0.36692	D	0.87964	B;B;B;P;B	0.39094	0.391;0.0;0.236;0.659;0.138	P;B;B;B;B	0.48368	0.575;0.004;0.206;0.419;0.037	D	0.95998	0.8991	10	0.59425	D	0.04	-6.6639	19.0004	0.92830	0.0:1.0:0.0:0.0	.	6;531;6;531;531	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	F	531;531;531;6;32	ENSP00000370630:S531F;ENSP00000450832:S531F;ENSP00000351352:S531F;ENSP00000440682:S6F;ENSP00000452450:S32F	ENSP00000351352:S531F	S	+	2	0	SIPA1L1	71155320	1.000000	0.71417	0.726000	0.30738	0.035000	0.12851	4.646000	0.61411	2.497000	0.84241	0.655000	0.94253	TCT		0.403	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		57	286	0	0	0	1	0	57	286				
PCSK6	5046	broad.mit.edu	37	15	101933572	101933572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101933572C>T	ENST00000348070.1	-	9	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	352	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTAGTCCCCCTCTCTCCCG	0.612																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1051-1053)Ggg>Agg		proprotein convertase subtilisin/kexin type 6							62.0	71.0	68.0					15																	101933572		2203	4300	6503	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101933572C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1051G>A	15.37:g.101933572C>T	ENSP00000305056:p.Gly351Arg					PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R	p.G351R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1050	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		352			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1051G>A		.	.	.	.	.	.	.	.	.	.	C	13.18	2.159489	0.38119	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.048919	0.85682	D	0.000000	D	0.91593	0.7344	L	0.37466	1.105	0.48762	D	0.999704	D;B;B;B;B;B;P;B;B	0.89917	1.0;0.42;0.055;0.044;0.055;0.055;0.782;0.285;0.333	D;B;B;B;B;B;B;B;B	0.97110	1.0;0.223;0.05;0.03;0.05;0.05;0.3;0.091;0.147	D	0.88946	0.3383	10	0.25106	T	0.35	-36.4737	18.9896	0.92786	0.0:1.0:0.0:0.0	.	352;257;351;352;351;351;352;352;351	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	R	351;351;256;351;351;186	ENSP00000305056:G351R;ENSP00000351193:G351R;ENSP00000344410:G351R;ENSP00000381243:G351R;ENSP00000332052:G186R	ENSP00000332052:G186R	G	-	1	0	PCSK6	99751095	0.227000	0.23707	0.997000	0.53966	0.572000	0.35998	2.255000	0.43222	2.793000	0.96121	0.655000	0.94253	GGG		0.612	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		55	226	0	0	0	1	0	55	226				
VNN1	8876	broad.mit.edu	37	6	133004445	133004445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133004445C>T	ENST00000367928.4	-	7	1389	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	459					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.R459H(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTAAACAAGCGTCCGTCAGT	0.398																																						ENST00000367928.4																			1	Substitution - Missense(1)	p.R459H(1)	lung(1)	NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1375-1377)cGc>cAc		vanin 1							99.0	91.0	94.0					6																	133004445		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133004445C>T	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1376G>A	6.37:g.133004445C>T	ENSP00000356905:p.Arg459His						p.R459H	NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	7	1389	-	Breast(56;0.135)		459					A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.1376G>A	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866004	0.51588	.	.	ENSG00000112299	ENST00000367928	D	0.93247	-3.19	5.86	4.99	0.66335	.	0.074910	0.64402	D	0.000020	D	0.88596	0.6479	M	0.85630	2.765	0.46396	D	0.999022	P	0.42993	0.797	B	0.34779	0.189	D	0.88288	0.2941	10	0.15952	T	0.53	-14.1688	14.725	0.69339	0.0:0.931:0.0:0.069	.	459	O95497	VNN1_HUMAN	H	459	ENSP00000356905:R459H	ENSP00000356905:R459H	R	-	2	0	VNN1	133046138	0.939000	0.31865	0.653000	0.29593	0.862000	0.49288	2.266000	0.43320	1.484000	0.48361	0.650000	0.86243	CGC		0.398	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			44	149	0	0	0	1	0	44	149				
GPBAR1	151306	broad.mit.edu	37	2	219127826	219127826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219127826G>A	ENST00000522678.1	+	2	1247	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	GPBAR1_ENST00000521462.1_Missense_Mutation_p.A127T|GPBAR1_ENST00000479077.1_Missense_Mutation_p.A127T|GPBAR1_ENST00000519574.1_Missense_Mutation_p.A127T	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	127					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCGGCTGGCCCTGCTCCT	0.652																																						ENST00000522678.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(379-381)Gcc>Acc		G protein-coupled bile acid receptor 1							50.0	56.0	54.0					2																	219127826		2107	4221	6328	SO:0001583	missense	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219127826G>A	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.379G>A	2.37:g.219127826G>A	ENSP00000430886:p.Ala127Thr					GPBAR1_ENST00000519574.1_Missense_Mutation_p.A127T|GPBAR1_ENST00000479077.1_Missense_Mutation_p.A127T|GPBAR1_ENST00000521462.1_Missense_Mutation_p.A127T	p.A127T	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1247	+		Renal(207;0.0474)	127					B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	c.379G>A	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204822	0.79127	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.075787	0.51477	U	0.000084	T	0.50939	0.1645	L	0.59436	1.845	0.38707	D	0.953116	D	0.61080	0.989	D	0.64595	0.927	T	0.44711	-0.9310	10	0.26408	T	0.33	-8.689	12.6101	0.56546	0.0:0.0:0.8341:0.1659	.	127	Q8TDU6	GPBAR_HUMAN	T	127	ENSP00000430698:A127T;ENSP00000430886:A127T;ENSP00000430202:A127T;ENSP00000428824:A127T	ENSP00000430698:A127T	A	+	1	0	GPBAR1	218836070	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.381000	0.52455	2.677000	0.91161	0.561000	0.74099	GCC		0.652	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191		96	236	0	0	0	1	0	96	236				
COPS8	10920	broad.mit.edu	37	2	237998518	237998518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237998518T>C	ENST00000354371.2	+	4	865	c.212T>C	c.(211-213)cTt>cCt	p.L71P	COPS8_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	71	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AATTCTGAACTTGGGGGAATT	0.408																																						ENST00000354371.2																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(211-213)cTt>cCt		COP9 signalosome subunit 8							63.0	65.0	64.0					2																	237998518		2203	4300	6503	SO:0001583	missense	10920				cullin deneddylation	cytoplasm|signalosome		g.chr2:237998518T>C		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"""COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"""			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.212T>C	2.37:g.237998518T>C	ENSP00000346340:p.Leu71Pro					COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P	p.L71P	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)	4	865	+		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)	71			PCI.		A8K1H6|Q53QS9	Missense_Mutation	SNP	ENST00000354371.2	37	c.212T>C	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167928	0.78339	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409334;ENST00000409629	.	.	.	5.37	5.37	0.77165	.	0.063904	0.64402	D	0.000009	T	0.78470	0.4288	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	9	0.87932	D	0	.	14.5789	0.68271	0.0:0.0:0.0:1.0	.	71;71	B8ZZP3;Q99627	.;CSN8_HUMAN	P	71;22;71;71	.	ENSP00000346340:L71P	L	+	2	0	COPS8	237663257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.043000	0.60533	0.528000	0.53228	CTT		0.408	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		66	362	0	0	0	1	0	66	362				
PTPRH	5794	broad.mit.edu	37	19	55708507	55708507	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708507C>T	ENST00000376350.3	-	9	1990	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	PTPRH_ENST00000263434.5_Silent_p.T478T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	656	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGAGGCTCTGCGTGGAACTGG	0.547																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1966-1968)acG>acA		protein tyrosine phosphatase, receptor type, H							123.0	96.0	105.0					19																	55708507		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708507C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1968G>A	19.37:g.55708507C>T						PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.T478T	p.T656T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1990	-		Renal(1328;0.245)	656			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.1968G>A	CCDS33110.1																																																																																				0.547	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			37	165	0	0	0	1	0	37	165				
CASR	846	broad.mit.edu	37	3	122003168	122003168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122003168C>T	ENST00000490131.1	+	7	2739	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Silent_p.F789F|CASR_ENST00000498619.1_Silent_p.F799F	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	789					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCTTCTTCTTTGCCTTCA	0.537																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2395-2397)ttC>ttT		calcium-sensing receptor	Cinacalcet(DB01012)						44.0	43.0	43.0					3																	122003168		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003168C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2367C>T	3.37:g.122003168C>T						CASR_ENST00000296154.5_Silent_p.F789F|CASR_ENST00000490131.1_Silent_p.F789F	p.F799F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2835	+			789					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2397C>T	CCDS3010.1																																																																																				0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		12	239	0	0	0	1	0	12	239				
CEP72	55722	broad.mit.edu	37	5	619199	619199	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:619199G>A	ENST00000264935.5	+	2	267	c.177G>A	c.(175-177)ttG>ttA	p.L59L	CEP72_ENST00000444221.1_Silent_p.L59L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	59					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGAAATCTTTGGATCTCTCGC	0.418																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(175-177)ttG>ttA		centrosomal protein 72kDa							167.0	162.0	164.0					5																	619199		2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:619199G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.177G>A	5.37:g.619199G>A						CEP72_ENST00000444221.1_Silent_p.L59L	p.L59L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		2	267	+			59					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.177G>A	CCDS34126.1																																																																																				0.418	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		11	724	0	0	0	1	0	11	724				
BRSK1	84446	broad.mit.edu	37	19	55805718	55805718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55805718C>T	ENST00000309383.1	+	7	908	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGATGGCCGCCGGGCAGACAT	0.592																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(631-633)Cgg>Tgg		BR serine/threonine kinase 1							82.0	82.0	82.0					19																	55805718		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805718C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.631C>T	19.37:g.55805718C>T	ENSP00000310649:p.Arg211Trp					BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W	p.R211W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	7	908	+		Renal(1328;0.245)	211			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.631C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050648	0.75960	.	.	ENSG00000160469	ENST00000309383	T	0.26223	1.75	4.79	2.43	0.29744	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.41811	0.1175	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.972	T	0.39035	-0.9633	10	0.87932	D	0	.	12.2446	0.54563	0.3075:0.6925:0.0:0.0	.	211;227	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	211	ENSP00000310649:R211W	ENSP00000310649:R211W	R	+	1	2	BRSK1	60497530	0.966000	0.33281	1.000000	0.80357	0.967000	0.64934	0.456000	0.21859	1.117000	0.41842	0.561000	0.74099	CGG		0.592	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		39	152	0	0	0	1	0	39	152				
ANKFY1	51479	broad.mit.edu	37	17	4085524	4085524	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4085524C>T	ENST00000341657.4	-	15	2108	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	ANKFY1_ENST00000573722.1_5'Flank|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.P692P|ANKFY1_ENST00000570535.1_Silent_p.P733P	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	691	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CAAGCCACAGCGGGGGGTTCC	0.542																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2071-2073)ccG>ccA		ankyrin repeat and FYVE domain containing 1							118.0	119.0	119.0					17																	4085524		2012	4164	6176	SO:0001819	synonymous_variant	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4085524C>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2073G>A	17.37:g.4085524C>T						CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.P692P|ANKFY1_ENST00000570535.1_Silent_p.P733P	p.P691P	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			15	2108	-			691					A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37	c.2073G>A																																																																																					0.542	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		146	584	0	0	0	1	0	146	584				
SLC38A4	55089	broad.mit.edu	37	12	47168916	47168916	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47168916C>T	ENST00000447411.1	-	13	1421	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	SLC38A4_ENST00000266579.4_Silent_p.V405V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	405					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTAATGTATACACTTTGCTGT	0.438																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1213-1215)gtG>gtA		solute carrier family 38, member 4							154.0	136.0	142.0					12																	47168916		2203	4300	6503	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47168916C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1215G>A	12.37:g.47168916C>T						SLC38A4_ENST00000266579.4_Silent_p.V405V	p.V405V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			13	1421	-	Lung SC(27;0.192)|Renal(347;0.236)		405					A8K553	Silent	SNP	ENST00000447411.1	37	c.1215G>A	CCDS8750.1																																																																																				0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			81	407	0	0	0	1	0	81	407				
TMEM41A	90407	broad.mit.edu	37	3	185209335	185209335	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185209335T>G	ENST00000421852.1	-	5	880	c.785A>C	c.(784-786)aAa>aCa	p.K262T	TMEM41A_ENST00000296254.3_3'UTR|TMEM41A_ENST00000475480.1_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	262						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCATGTGTCTTTTCTACTGTG	0.383																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(784-786)aAa>aCa		transmembrane protein 41A							150.0	140.0	143.0					3																	185209335		2203	4300	6503	SO:0001583	missense	90407					integral to membrane		g.chr3:185209335T>G	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.785A>C	3.37:g.185209335T>G	ENSP00000406885:p.Lys262Thr					TMEM41A_ENST00000475480.1_Intron|TMEM41A_ENST00000296254.3_3'UTR	p.K262T	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		5	880	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		262					A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	37	c.785A>C	CCDS3271.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964913	0.53507	.	.	ENSG00000163900	ENST00000421852	.	.	.	5.69	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.70275	2.135	0.80722	D	1	P	0.47106	0.89	B	0.40901	0.343	T	0.58994	-0.7537	9	0.72032	D	0.01	-15.9716	9.7811	0.40649	0.0:0.0774:0.0:0.9226	.	262	Q96HV5	TM41A_HUMAN	T	262	.	ENSP00000406885:K262T	K	-	2	0	TMEM41A	186692029	0.997000	0.39634	0.999000	0.59377	0.499000	0.33736	2.946000	0.49050	2.178000	0.69098	0.533000	0.62120	AAA		0.383	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		55	225	0	0	0	1	0	55	225				
SERPINA13P	388007	broad.mit.edu	37	14	95109872	95109872	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95109872G>A	ENST00000469935.1	+	0	909					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										GATGAGCACAGCGCTGTGTGG	0.592																																						ENST00000469935.1																			0																				89.0	72.0	78.0					14																	95109872		2203	4300	6503			0							g.chr14:95109872G>A	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95109872G>A								NR_015340.1						0	909	+									RNA	SNP	ENST00000469935.1	37																																																																																						0.592	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		28	137	0	0	0	1	0	28	137				
MAPK7	5598	broad.mit.edu	37	17	19286192	19286192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286192G>A	ENST00000308406.5	+	6	2616	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	744	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTACGGTGTTGGCTTTGACCT	0.577																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(2230-2232)Ggc>Agc		mitogen-activated protein kinase 7							152.0	146.0	148.0					17																	19286192		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19286192G>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2230G>A	17.37:g.19286192G>A	ENSP00000311005:p.Gly744Ser					MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S|MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000571657.1_3'UTR	p.G744S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			6	2616	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		744			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2230G>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259303	0.95368	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;D;T;T	0.82526	-1.41;-1.62;-1.41;-1.41	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	M	0.63843	1.955	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	D	0.90678	0.4603	10	0.87932	D	0	-27.6555	16.7641	0.85520	0.0:0.0:1.0:0.0	.	744	Q13164	MK07_HUMAN	S	744;605;744;744	ENSP00000311005:G744S;ENSP00000299612:G605S;ENSP00000378968:G744S;ENSP00000378966:G744S	ENSP00000299612:G605S	G	+	1	0	MAPK7	19226785	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.830000	0.92063	2.565000	0.86533	0.491000	0.48974	GGC		0.577	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		91	404	0	0	0	1	0	91	404				
NSG1	27065	broad.mit.edu	37	4	4419023	4419023	+	Missense_Mutation	SNP	G	G	A	rs139279868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4419023G>A	ENST00000421177.2	+	9	2410	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	NSG1_ENST00000505246.1_Missense_Mutation_p.R140Q|STX18_ENST00000505286.1_Intron|NSG1_ENST00000397958.1_Missense_Mutation_p.R140Q|NSG1_ENST00000513555.1_Missense_Mutation_p.R140Q|NSG1_ENST00000433139.2_Missense_Mutation_p.R140Q|NSG1_ENST00000504171.1_Missense_Mutation_p.R101Q|NSG1_ENST00000506380.1_Missense_Mutation_p.R140Q			P42857	NSG1_HUMAN		140					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCAGTGCCCGGGAGAAATTT	0.547																																						ENST00000421177.2																			0											c.(418-420)cGg>cAg				G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	84.0	89.0	87.0		419,419	2.6	1.0	4	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	D4S234E	NM_001040101.1,NM_014392.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	140/186,140/186	4419023	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr4:4419023G>A																												ENST00000421177.2:c.419G>A	4.37:g.4419023G>A	ENSP00000388823:p.Arg140Gln					STX18_ENST00000505286.1_Intron|NSG1_ENST00000505246.1_Missense_Mutation_p.R140Q|NSG1_ENST00000504171.1_Missense_Mutation_p.R101Q|NSG1_ENST00000433139.2_Missense_Mutation_p.R140Q|NSG1_ENST00000513555.1_Missense_Mutation_p.R140Q|NSG1_ENST00000397958.1_Missense_Mutation_p.R140Q|NSG1_ENST00000506380.1_Missense_Mutation_p.R140Q	p.R140Q							9	2410	+								B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.419G>A	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568709	0.28003	0.0	1.16E-4	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.4	2.61	0.31194	.	0.248124	0.34314	N	0.004078	T	0.37376	0.1001	L	0.39147	1.195	0.80722	D	1	B;P	0.39862	0.035;0.692	B;B	0.33295	0.014;0.161	T	0.14504	-1.0470	9	0.62326	D	0.03	-3.1935	8.0789	0.30733	0.0819:0.3077:0.6104:0.0	.	101;140	B4DXC5;P42857	.;NSG1_HUMAN	Q	140;140;140;140;140;140;101	.	ENSP00000381049:R140Q	R	+	2	0	AC110814.1	4469924	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	6.072000	0.71238	0.283000	0.22279	-0.305000	0.09177	CGG		0.547	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			99	458	0	0	0	1	0	99	458				
ARMC6	93436	broad.mit.edu	37	19	19162840	19162840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19162840C>T	ENST00000535612.1	+	5	1121	c.689C>T	c.(688-690)aCc>aTc	p.T230I	ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I|ARMC6_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	230					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGTGCCATCACCCATCATGGC	0.597																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(688-690)aCc>aTc		armadillo repeat containing 6							91.0	55.0	67.0					19																	19162840		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162840C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.689C>T	19.37:g.19162840C>T	ENSP00000444156:p.Thr230Ile					ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I|ARMC6_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I	p.T230I	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	1121	+			230					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.689C>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	3.571	-0.087560	0.07097	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.32	-1.02	0.10135	Armadillo-like helical (1);Armadillo-type fold (1);	0.818936	0.11528	N	0.554983	T	0.51669	0.1688	L	0.36672	1.1	0.09310	N	1	B	0.34181	0.44	B	0.27170	0.077	T	0.35126	-0.9801	10	0.38643	T	0.18	-2.7493	5.6963	0.17857	0.1775:0.4361:0.0:0.3864	.	230	Q6NXE6	ARMC6_HUMAN	I	205;230;205;205;137;205;137;141;141;230	ENSP00000376147:T205I;ENSP00000444156:T230I;ENSP00000441948:T205I;ENSP00000269932:T205I;ENSP00000444341:T137I;ENSP00000446037:T205I;ENSP00000437580:T137I;ENSP00000376148:T230I	ENSP00000269932:T205I	T	+	2	0	ARMC6	19023840	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.010000	0.14839	-0.254000	0.11334	ACC		0.597	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		36	199	0	0	0	1	0	36	199				
RP1	6101	broad.mit.edu	37	8	55540824	55540824	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55540824A>C	ENST00000220676.1	+	4	4530	c.4382A>C	c.(4381-4383)aAc>aCc	p.N1461T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1461					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGAAAGAAACATTTCAGAA	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4381-4383)aAc>aCc		retinitis pigmentosa 1 (autosomal dominant)							50.0	54.0	53.0					8																	55540824		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540824A>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4382A>C	8.37:g.55540824A>C	ENSP00000220676:p.Asn1461Thr						p.N1461T	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4530	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1461						Missense_Mutation	SNP	ENST00000220676.1	37	c.4382A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702442	0.30232	.	.	ENSG00000104237	ENST00000220676	T	0.65364	-0.15	5.48	0.271	0.15640	.	0.461357	0.19939	N	0.102690	T	0.53562	0.1804	M	0.68952	2.095	0.09310	N	1	P	0.39282	0.666	B	0.37508	0.252	T	0.50372	-0.8836	10	0.87932	D	0	-2.9732	5.6249	0.17477	0.5776:0.1383:0.2841:0.0	.	1461	P56715	RP1_HUMAN	T	1461	ENSP00000220676:N1461T	ENSP00000220676:N1461T	N	+	2	0	RP1	55703377	0.000000	0.05858	0.021000	0.16686	0.634000	0.38068	-0.722000	0.04958	-0.176000	0.10707	0.533000	0.62120	AAC		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		73	263	0	0	0	1	0	73	263				
NPR3	4883	broad.mit.edu	37	5	32712326	32712326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32712326G>A	ENST00000265074.8	+	1	787	c.444G>A	c.(442-444)tcG>tcA	p.S148S	NPR3_ENST00000415167.2_Silent_p.S148S|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTTGCATCGCACTGGGACC	0.706																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(442-444)tcG>tcA		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						45.0	50.0	48.0					5																	32712326		1990	4121	6111	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712326G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.444G>A	5.37:g.32712326G>A						NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.S148S	p.S148S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	787	+			148					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.444G>A	CCDS56357.1																																																																																				0.706	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		99	516	0	0	0	1	0	99	516				
ZNF577	84765	broad.mit.edu	37	19	52376486	52376486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52376486G>A	ENST00000301399.5	-	7	1122	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.R194W|ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGGCACTTCCGGCTGAAGGCT	0.498																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(580-582)Cgg>Tgg		zinc finger protein 577							66.0	61.0	63.0					19																	52376486		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376486G>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.757C>T	19.37:g.52376486G>A	ENSP00000301399:p.Arg253Trp					ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.R253W	p.R194W			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1913	-		all_neural(266;0.0602)	253					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.580C>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	1.638	-0.517341	0.04171	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	3.1	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	M	0.67569	2.06	0.09310	N	1	B;P	0.34837	0.097;0.472	B;B	0.18263	0.007;0.021	T	0.29971	-0.9994	9	0.32370	T	0.25	.	0.3231	0.00306	0.2893:0.1341:0.2085:0.3681	.	253;194	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	W	253;194;194;253	ENSP00000301399:R253W;ENSP00000413476:R194W;ENSP00000389652:R194W;ENSP00000404509:R253W	ENSP00000301399:R253W	R	-	1	2	ZNF577	57068298	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.151000	0.00582	-0.835000	0.04234	-0.140000	0.14226	CGG		0.498	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		50	180	0	0	0	1	0	50	180				
TBC1D5	9779	broad.mit.edu	37	3	17208310	17208310	+	Silent	SNP	G	G	T	rs143757025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17208310G>T	ENST00000253692.7	-	21	3707	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Silent_p.G681G|TBC1D5_ENST00000446818.2_Silent_p.G703G	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	681						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTCGGCCCTGGCCCTGGCCGC	0.517																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(2041-2043)ggC>ggA		TBC1 domain family, member 5							95.0	86.0	89.0					3																	17208310		2203	4300	6503	SO:0001819	synonymous_variant	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17208310G>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2043C>A	3.37:g.17208310G>T						TBC1D5_ENST00000446818.2_Silent_p.G703G|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Silent_p.G681G	p.G681G	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			21	3707	-			681					A6NP25|C9JP52	Silent	SNP	ENST00000253692.7	37	c.2043C>A	CCDS33714.1																																																																																				0.517	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		65	316	1	0	1.31726e-23	1	1.49873e-23	65	316				
PRLR	5618	broad.mit.edu	37	5	35072836	35072836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35072836G>A	ENST00000382002.5	-	6	810	c.384C>T	c.(382-384)gaC>gaT	p.D128D	PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000397391.3_Silent_p.D57D|PRLR_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000511486.1_Silent_p.D27D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	128	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CCAAAGGAGGGTCTGGCTGAA	0.428																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(382-384)gaC>gaT		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						97.0	92.0	94.0					5																	35072836		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35072836G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.384C>T	5.37:g.35072836G>A						PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000397391.3_Silent_p.D57D|PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000511486.1_Silent_p.D27D|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000509934.1_5'UTR	p.D128D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		6	810	-	all_lung(31;3.83e-05)		128			Fibronectin type-III 2.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.384C>T	CCDS3909.1																																																																																				0.428	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			63	305	0	0	0	1	0	63	305				
CLVS1	157807	broad.mit.edu	37	8	62212434	62212434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62212434G>T	ENST00000519846.1	+	3	520	c.48G>T	c.(46-48)tgG>tgT	p.W16C	CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	16					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAAACACTTGGAACGGAGATT	0.453																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(46-48)tgG>tgT		clavesin 1							58.0	57.0	57.0					8																	62212434		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212434G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.48G>T	8.37:g.62212434G>T	ENSP00000428402:p.Trp16Cys					CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|CLVS1_ENST00000518592.1_Intron	p.W16C			Q8IUQ0	CLVS1_HUMAN			3	520	+			16					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.48G>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171922	0.21704	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.79247	-1.25;-1.25	5.79	1.84	0.25277	.	0.842461	0.10876	N	0.624284	T	0.67163	0.2864	L	0.29908	0.895	0.58432	D	0.999995	P;P;P	0.50156	0.844;0.9;0.932	B;B;B	0.43783	0.22;0.431;0.321	T	0.60586	-0.7234	10	0.35671	T	0.21	4.8743	9.1951	0.37224	0.1096:0.2314:0.659:0.0	.	16;16;16	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	C	16	ENSP00000428402:W16C;ENSP00000325506:W16C	ENSP00000325506:W16C	W	+	3	0	CLVS1	62374988	1.000000	0.71417	0.293000	0.24932	0.595000	0.36748	3.253000	0.51469	0.741000	0.32674	-0.176000	0.13171	TGG		0.453	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		40	183	1	0	1.30091e-30	1	1.52718e-30	40	183				
C1orf43	25912	broad.mit.edu	37	1	154184951	154184951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154184951C>T	ENST00000368521.5	-	5	688	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T|C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	164						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATAGCGGGCTGTTTCATAG	0.488																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(490-492)Gcc>Acc		chromosome 1 open reading frame 43							85.0	81.0	82.0					1																	154184951		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154184951C>T	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.490G>A	1.37:g.154184951C>T	ENSP00000357507:p.Ala164Thr					C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T|C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T	p.A164T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			5	688	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		164					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.490G>A	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239370	0.79800	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	Dehydrogenase, multihelical (1);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.80616	2.505	0.80722	D	1	P;P;D;B;P	0.63880	0.801;0.801;0.993;0.361;0.834	B;B;D;B;P	0.63703	0.434;0.434;0.917;0.133;0.57	T	0.78763	-0.2077	9	0.87932	D	0	-17.7958	18.3255	0.90252	0.0:1.0:0.0:0.0	.	146;130;164;112;130	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	T	130;164;112;146;164;130	.	ENSP00000271925:A130T	A	-	1	0	C1orf43	152451575	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.017000	0.76399	2.814000	0.96858	0.585000	0.79938	GCC		0.488	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		144	357	0	0	0	1	0	144	357				
ACAN	176	broad.mit.edu	37	15	89400831	89400831	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400831C>A	ENST00000561243.1	+	11	5015	c.5015C>A	c.(5014-5016)gCc>gAc	p.A1672D	ACAN_ENST00000559004.1_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D|ACAN_ENST00000439576.2_Missense_Mutation_p.A1672D			P16112	PGCA_HUMAN	aggrecan	1726	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGTCACAGCCTCCACTGCA	0.537																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5014-5016)gCc>gAc		aggrecan							144.0	145.0	145.0					15																	89400831		1969	4150	6119	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400831C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5015C>A	15.37:g.89400831C>A	ENSP00000453342:p.Ala1672Asp					ACAN_ENST00000559004.1_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D|ACAN_ENST00000561243.1_Missense_Mutation_p.A1672D	p.A1672D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5389	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1672					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5015C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371721	0.24857	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02606	4.47;4.23	5.86	4.94	0.65067	.	0.532223	0.14184	N	0.335806	T	0.10637	0.0260	M	0.65975	2.015	0.09310	N	0.99999	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.968	T	0.24225	-1.0166	10	0.21014	T	0.42	-14.2096	8.8309	0.35082	0.149:0.7764:0.0:0.0746	.	1672;1672	E7ENV9;E7EX88	.;.	D	1672;1672;1558	ENSP00000387356:A1672D;ENSP00000341615:A1672D	ENSP00000268134:A1558D	A	+	2	0	ACAN	87201835	0.542000	0.26426	0.997000	0.53966	0.880000	0.50808	1.432000	0.34936	1.477000	0.48234	0.655000	0.94253	GCC		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		114	607	1	0	1.472e-32	1	1.73897e-32	114	607				
KCNA7	3743	broad.mit.edu	37	19	49573470	49573470	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49573470G>A	ENST00000221444.1	-	2	1576	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	407					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CAGCCTCTTCGCCCTCTGTCT	0.592																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1219-1221)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, member 7							72.0	68.0	69.0					19																	49573470		2203	4300	6503	SO:0001819	synonymous_variant	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573470G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1221C>T	19.37:g.49573470G>A							p.G407G	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1576	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	407					A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	c.1221C>T	CCDS12755.1																																																																																				0.592	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		77	254	0	0	0	1	0	77	254				
ECEL1	9427	broad.mit.edu	37	2	233349192	233349192	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233349192T>C	ENST00000304546.1	-	6	1384	c.1174A>G	c.(1174-1176)Aca>Gca	p.T392A	ECEL1_ENST00000409941.1_Missense_Mutation_p.T392A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	392					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGGTGGGGTGTGGAGCGGATG	0.587																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1174-1176)Aca>Gca		endothelin converting enzyme-like 1							110.0	108.0	109.0					2																	233349192		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349192T>C	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1174A>G	2.37:g.233349192T>C	ENSP00000302051:p.Thr392Ala					ECEL1_ENST00000409941.1_Missense_Mutation_p.T392A	p.T392A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	1384	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	392					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1174A>G	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613340	0.66672	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.77750	-1.12;-1.12	5.73	4.55	0.56014	Peptidase M13 (1);	0.210096	0.48767	N	0.000178	D	0.83769	0.5326	M	0.76727	2.345	0.58432	D	0.999999	D;B	0.58268	0.982;0.271	P;B	0.55087	0.768;0.207	D	0.84668	0.0710	10	0.59425	D	0.04	-11.6338	13.0361	0.58873	0.0:0.0:0.1346:0.8654	.	392;392	O95672-2;O95672	.;ECEL1_HUMAN	A	392	ENSP00000302051:T392A;ENSP00000386333:T392A	ENSP00000302051:T392A	T	-	1	0	ECEL1	233057436	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.327000	0.65881	0.980000	0.38523	0.456000	0.33151	ACA		0.587	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		13	963	0	0	0	1	0	13	963				
HSPBAP1	79663	broad.mit.edu	37	3	122459627	122459627	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459627G>T	ENST00000306103.2	-	8	1175	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	344						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCAGTGCTTGGATTTCTACTA	0.448																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1030-1032)atC>atA		HSPB (heat shock 27kDa) associated protein 1							173.0	163.0	166.0					3																	122459627		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122459627G>T	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1032C>A	3.37:g.122459627G>T						HSPBAP1_ENST00000383659.1_3'UTR	p.I344I	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1175	-			344					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.1032C>A	CCDS3017.1																																																																																				0.448	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		148	703	1	0	7.55372e-74	1	9.62008e-74	148	703				
GRM6	2916	broad.mit.edu	37	5	178413655	178413655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413655C>T	ENST00000517717.1	-	9	1638	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V534I			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	534					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGCAGGGGACGCCCTTCACC	0.682																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1600-1602)Gtc>Atc		glutamate receptor, metabotropic 6							44.0	38.0	40.0					5																	178413655		2203	4299	6502	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413655C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1600G>A	5.37:g.178413655C>T	ENSP00000430767:p.Val534Ile					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V534I	p.V534I	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1778	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	534						Missense_Mutation	SNP	ENST00000517717.1	37	c.1600G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340760	0.60963	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89552	-2.53;-2.53	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.89649	0.6776	N	0.20685	0.6	0.49798	D	0.999821	D;B	0.67145	0.996;0.11	D;B	0.76071	0.987;0.022	D	0.90627	0.4564	9	0.51188	T	0.08	.	15.3541	0.74415	0.0:1.0:0.0:0.0	.	690;534	E7EX65;O15303	.;GRM6_HUMAN	I	690;534;534	ENSP00000231188:V534I;ENSP00000430767:V534I	ENSP00000231188:V534I	V	-	1	0	GRM6	178346261	0.998000	0.40836	0.987000	0.45799	0.878000	0.50629	3.974000	0.56852	2.281000	0.76405	0.462000	0.41574	GTC		0.682	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			89	284	0	0	0	1	0	89	284				
PDE10A	10846	broad.mit.edu	37	6	165749634	165749634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165749634C>T	ENST00000366882.1	-	22	2369	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	739					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGAAGAGGCTCCGTGGGAGGG	0.463																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2215-2217)Gag>Aag		phosphodiesterase 10A	Dipyridamole(DB00975)						94.0	88.0	90.0					6																	165749634		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165749634C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2215G>A	6.37:g.165749634C>T	ENSP00000355847:p.Glu739Lys					PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K	p.E739K			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	22	2369	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	739					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2215G>A		.	.	.	.	.	.	.	.	.	.	C	6.089	0.384630	0.11524	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76578	-1.03;-1.03	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.307106	0.39909	N	0.001232	T	0.39572	0.1083	N	0.11789	0.175	0.22918	N	0.998562	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.002	T	0.05767	-1.0865	10	0.07325	T	0.83	.	15.0715	0.72040	0.0:0.8585:0.1415:0.0	.	749;739	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	739;767;749;739;738	ENSP00000355847:E739K;ENSP00000346435:E739K	ENSP00000341187:E749K	E	-	1	0	PDE10A	165669624	0.766000	0.28496	0.470000	0.27216	0.695000	0.40330	1.776000	0.38594	2.681000	0.91329	0.655000	0.94253	GAG		0.463	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			24	141	0	0	0	1	0	24	141				
LAPTM5	7805	broad.mit.edu	37	1	31211857	31211857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31211857C>A	ENST00000294507.3	-	5	514	c.440G>T	c.(439-441)aGc>aTc	p.S147I	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	147					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCAGGATGCTCAGGCAGAA	0.542																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(439-441)aGc>aTc		lysosomal protein transmembrane 5							70.0	59.0	63.0					1																	31211857		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31211857C>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.440G>T	1.37:g.31211857C>A	ENSP00000294507:p.Ser147Ile						p.S147I	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	5	514	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	147					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.440G>T	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119689	0.77323	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.58940	0.3	5.73	5.73	0.89815	.	0.053362	0.85682	D	0.000000	T	0.74906	0.3778	M	0.72118	2.19	0.42479	D	0.99285	D	0.89917	1.0	D	0.81914	0.995	T	0.77360	-0.2617	10	0.87932	D	0	-35.521	15.3854	0.74695	0.0:1.0:0.0:0.0	.	147	Q13571	LAPM5_HUMAN	I	147	ENSP00000294507:S147I	ENSP00000294507:S147I	S	-	2	0	LAPTM5	30984444	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.270000	0.58896	2.701000	0.92244	0.655000	0.94253	AGC		0.542	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		6	37	1	0	0.0215528	1	0.0216335	6	37				
ZBTB5	9925	broad.mit.edu	37	9	37441319	37441319	+	Silent	SNP	C	C	T	rs138751675	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37441319C>T	ENST00000307750.4	-	2	1418	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TAAGAAAATTCGAAATACTAA	0.393																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(1228-1230)tcG>tcA		zinc finger and BTB domain containing 5							64.0	71.0	69.0					9																	37441319		2203	4300	6503	SO:0001819	synonymous_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441319C>T	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1230G>A	9.37:g.37441319C>T							p.S410S	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1418	-			410						Silent	SNP	ENST00000307750.4	37	c.1230G>A	CCDS6610.1																																																																																				0.393	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		65	271	0	0	0	1	0	65	271				
MDK	4192	broad.mit.edu	37	11	46404188	46404188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46404188G>A	ENST00000405308.2	+	4	725	c.296G>A	c.(295-297)gGc>gAc	p.G99D	MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395569.4_Missense_Mutation_p.G43D|MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000407067.1_Missense_Mutation_p.G99D	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	99					adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGGGGCACAGGCACCAAAGTC	0.657																																						ENST00000405308.2																			0				lung(1)	1						c.(295-297)gGc>gAc		midkine (neurite growth-promoting factor 2)							55.0	43.0	47.0					11																	46404188		2201	4298	6499	SO:0001583	missense	4192				adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding	g.chr11:46404188G>A		CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492			6972	protein-coding gene	gene with protein product		162096		NEGF2		8406506	Standard	NM_002391		Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.296G>A	11.37:g.46404188G>A	ENSP00000385451:p.Gly99Asp					MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000395569.4_Missense_Mutation_p.G43D|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000407067.1_Missense_Mutation_p.G99D|MDK_ENST00000533283.1_3'UTR	p.G99D	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN		GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)	4	725	+			99					Q2LEK4|Q9UCC7	Missense_Mutation	SNP	ENST00000405308.2	37	c.296G>A	CCDS7919.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709696	0.89018	.	.	ENSG00000110492	ENST00000405308;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395569;ENST00000395566;ENST00000407067;ENST00000395565	.	.	.	4.83	4.83	0.62350	Midkine heparin-binding growth factor, N-terminal (1);Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.	.	.	.	T	0.79488	0.4454	M	0.75264	2.295	0.47276	D	0.999377	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.971;0.992;0.989	T	0.81667	-0.0829	8	0.72032	D	0.01	.	18.4742	0.90786	0.0:0.0:1.0:0.0	.	43;99;99	Q2LEK4;E9PLM6;P21741	.;.;MK_HUMAN	D	99;99;99;99;43;99;99;99	.	ENSP00000352852:G99D	G	+	2	0	MDK	46360764	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	2.946000	0.49050	2.686000	0.91538	0.650000	0.86243	GGC		0.657	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317546.2	NM_001012334		31	97	0	0	0	1	0	31	97				
CYFIP2	26999	broad.mit.edu	37	5	156746841	156746841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746841G>A	ENST00000521420.1	+	13	1441	c.1350G>A	c.(1348-1350)agG>agA	p.R450R	CYFIP2_ENST00000347377.6_Silent_p.R476R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000377576.3_Silent_p.R476R					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCCATCAGGAACACCATCT	0.597																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1426-1428)agG>agA		cytoplasmic FMR1 interacting protein 2							131.0	133.0	132.0					5																	156746841		2203	4300	6503	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746841G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1350G>A	5.37:g.156746841G>A						CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000521420.1_Silent_p.R450R|CYFIP2_ENST00000541131.1_Silent_p.R401R	p.R476R	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1859	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	476						Silent	SNP	ENST00000521420.1	37	c.1428G>A																																																																																					0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		30	535	0	0	0	1	0	30	535				
PROX1	5629	broad.mit.edu	37	1	214171148	214171148	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214171148T>G	ENST00000366958.4	+	2	1878	c.1270T>G	c.(1270-1272)Ttt>Gtt	p.F424V	PROX1_ENST00000435016.1_Missense_Mutation_p.F424V|PROX1_ENST00000261454.4_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_Missense_Mutation_p.F424V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	424					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTGGACACCTTTGGCAATGT	0.582																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1270-1272)Ttt>Gtt		prospero homeobox 1							100.0	101.0	101.0					1																	214171148		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171148T>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1270T>G	1.37:g.214171148T>G	ENSP00000355925:p.Phe424Val					PROX1_ENST00000435016.1_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_Missense_Mutation_p.F424V|PROX1_ENST00000261454.4_Missense_Mutation_p.F424V	p.F424V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1878	+			424					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1270T>G	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974146	0.53720	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.51574	0.72;0.7;0.72;0.72	5.43	5.43	0.79202	.	0.094831	0.85682	D	0.000000	T	0.65974	0.2743	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.64132	-0.6479	10	0.32370	T	0.25	-2.9139	15.4822	0.75537	0.0:0.0:0.0:1.0	.	424	Q92786	PROX1_HUMAN	V	424	ENSP00000420283:F424V;ENSP00000355925:F424V;ENSP00000400694:F424V;ENSP00000261454:F424V	ENSP00000261454:F424V	F	+	1	0	PROX1	212237771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.060000	0.61445	0.482000	0.46254	TTT		0.582	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		173	560	0	0	0	1	0	173	560				
FAT4	79633	broad.mit.edu	37	4	126240893	126240893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240893C>T	ENST00000394329.3	+	1	3340	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1109	Cadherin 11. {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						CATTTTACTTCGAAGAAGAGC	0.393																																						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.(3325-3327)ttC>ttT		FAT atypical cadherin 4							159.0	153.0	155.0					4																	126240893		1853	4077	5930	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240893C>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.3327C>T	4.37:g.126240893C>T							p.F1109F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3340	+			1109			Cadherin 11.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3327C>T	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		189	759	0	0	0	1	0	189	759				
SLC12A7	10723	broad.mit.edu	37	5	1064240	1064240	+	Silent	SNP	G	G	A	rs137938985	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1064240G>A	ENST00000264930.5	-	19	2608	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	855					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGAGCATGCCGCCGTCGTGCA	0.687													G|||	6	0.00119808	0.0	0.0014	5008	,	,		10000	0.0		0.003	False		,,,				2504	0.002					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2563-2565)ggC>ggT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		2,4398	4.2+/-10.8	0,2,2198	43.0	38.0	40.0		2565	-2.2	1.0	5	dbSNP_134	40	8,8578	6.4+/-24.3	0,8,4285	no	coding-synonymous	SLC12A7	NM_006598.2		0,10,6483	AA,AG,GG		0.0932,0.0455,0.077		855/1084	1064240	10,12976	2200	4293	6493	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064240G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2565C>T	5.37:g.1064240G>A							p.G855G	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2608	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		855					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.2565C>T	CCDS34129.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.483	0.860238	0.17178	4.55E-4	9.32E-4	ENSG00000113504	ENST00000513223	.	.	.	4.26	-2.24	0.06909	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31806	-0.9930	4	.	.	.	.	2.4554	0.04528	0.1945:0.1736:0.4441:0.1878	.	.	.	.	W	213	.	.	R	-	1	2	SLC12A7	1117240	0.189000	0.23263	0.999000	0.59377	0.657000	0.38888	-0.799000	0.04560	-0.046000	0.13446	0.313000	0.20887	CGG		0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		12	195	0	0	0	1	0	12	195				
COL1A1	1277	broad.mit.edu	37	17	48263816	48263816	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48263816G>A	ENST00000225964.5	-	49	3985	c.3867C>T	c.(3865-3867)gtC>gtT	p.V1289V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1289	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TGTTGCAGAAGACTTTGATGG	0.567			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3865-3867)gtC>gtT		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						134.0	127.0	129.0					17																	48263816		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263816G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3867C>T	17.37:g.48263816G>A							p.V1289V	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			49	3985	-			1289			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.3867C>T	CCDS11561.1																																																																																				0.567	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			116	432	0	0	0	1	0	116	432				
HERC1	8925	broad.mit.edu	37	15	63935242	63935242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63935242G>A	ENST00000443617.2	-	59	11434	c.11347C>T	c.(11347-11349)Caa>Taa	p.Q3783*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3783					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						acaacagtttgcaagACAGAG	0.348																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(11347-11349)Caa>Taa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							66.0	60.0	62.0					15																	63935242		1862	4091	5953	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63935242G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11347C>T	15.37:g.63935242G>A	ENSP00000390158:p.Gln3783*						p.Q3783*	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			59	11434	-			3783					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.11347C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	52	19.959870	0.99925	.	.	ENSG00000103657	ENST00000443617	.	.	.	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.8081	0.57626	0.0:0.0:1.0:0.0	.	.	.	.	X	3783	.	ENSP00000390158:Q3783X	Q	-	1	0	HERC1	61722295	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.926000	0.75835	2.153000	0.67306	0.467000	0.42956	CAA		0.348	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		18	84	0	0	0	1	0	18	84				
GLI3	2737	broad.mit.edu	37	7	42005103	42005103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005103C>T	ENST00000395925.3	-	15	3652	c.3568G>A	c.(3568-3570)Gcc>Acc	p.A1190T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1190					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AACCCAAAGGCGCGAGTCTGC	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3568-3570)Gcc>Acc		GLI family zinc finger 3							63.0	77.0	72.0					7																	42005103		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005103C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3568G>A	7.37:g.42005103C>T	ENSP00000379258:p.Ala1190Thr					GLI3_ENST00000479210.1_5'UTR	p.A1190T	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3652	-			1190					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3568G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693048	0.48202	.	.	ENSG00000106571	ENST00000395925	T	0.15256	2.44	5.57	5.57	0.84162	.	0.152938	0.64402	D	0.000016	T	0.10981	0.0268	L	0.38175	1.15	0.80722	D	1	B	0.18610	0.029	B	0.08055	0.003	T	0.07908	-1.0748	10	0.02654	T	1	.	9.4972	0.38995	0.0:0.7812:0.1441:0.0747	.	1190	P10071	GLI3_HUMAN	T	1190	ENSP00000379258:A1190T	ENSP00000379258:A1190T	A	-	1	0	GLI3	41971628	0.170000	0.23016	0.039000	0.18376	0.212000	0.24457	0.601000	0.24119	2.610000	0.88304	0.563000	0.77884	GCC		0.657	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		173	646	0	0	0	1	0	173	646				
VCL	7414	broad.mit.edu	37	10	75863594	75863594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75863594G>A	ENST00000211998.4	+	15	2133	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_Missense_Mutation_p.R680H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	680	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TCGGCTGCTCGTATCTTACTT	0.433																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(2038-2040)cGt>cAt		vinculin							186.0	148.0	161.0					10																	75863594		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75863594G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2039G>A	10.37:g.75863594G>A	ENSP00000211998:p.Arg680His					VCL_ENST00000372755.3_Missense_Mutation_p.R680H|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000417648.2_Intron	p.R680H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			15	2133	+	Prostate(51;0.0112)		680			N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.2039G>A	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592370	0.86953	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.41400	1.0;1.0;1.0	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.80764	0.96;0.797;0.994	T	0.65557	-0.6139	10	0.56958	D	0.05	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	607;680;680	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	680;680;587;607;352	ENSP00000361841:R680H;ENSP00000211998:R680H;ENSP00000415489:R352H	ENSP00000211998:R680H	R	+	2	0	VCL	75533600	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	9.209000	0.95087	2.788000	0.95919	0.557000	0.71058	CGT		0.433	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		104	436	0	0	0	1	0	104	436				
MYO1G	64005	broad.mit.edu	37	7	45010534	45010534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010534C>T	ENST00000258787.7	-	8	1107	c.971G>A	c.(970-972)cGc>cAc	p.R324H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	324	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGCAGGGAGCGGAGCACGAG	0.672																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(970-972)cGc>cAc		myosin IG							49.0	41.0	43.0					7																	45010534		2202	4300	6502	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45010534C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.971G>A	7.37:g.45010534C>T	ENSP00000258787:p.Arg324His						p.R324H	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			8	1107	-			324			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.971G>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282578	0.59867	.	.	ENSG00000136286	ENST00000258787	D	0.87412	-2.25	5.3	4.43	0.53597	Myosin head, motor domain (2);	0.000000	0.40385	N	0.001103	D	0.86443	0.5934	L	0.28014	0.82	0.37491	D	0.916393	D;D	0.69078	0.997;0.985	D;P	0.63192	0.912;0.806	D	0.87855	0.2660	10	0.66056	D	0.02	.	8.4286	0.32744	0.0:0.8224:0.0:0.1776	.	324;324	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	H	324	ENSP00000258787:R324H	ENSP00000258787:R324H	R	-	2	0	MYO1G	44977059	0.997000	0.39634	0.986000	0.45419	0.288000	0.27193	0.993000	0.29680	1.384000	0.46424	0.655000	0.94253	CGC		0.672	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			31	157	0	0	0	1	0	31	157				
TSHZ2	128553	broad.mit.edu	37	20	51870294	51870294	+	Silent	SNP	C	C	T	rs371445975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870294C>T	ENST00000371497.5	+	2	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.C96C|TSHZ2_ENST00000603338.2_Silent_p.C96C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	99					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(295-297)tgC>tgT		teashirt zinc finger homeobox 2		C	,	0,4406		0,0,2203	92.0	79.0	83.0		288,297	-1.2	0.8	20		83	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/1032,99/1035	51870294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870294C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.297C>T	20.37:g.51870294C>T						TSHZ2_ENST00000329613.6_Silent_p.C96C|TSHZ2_ENST00000603338.2_Silent_p.C96C	p.C99C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1184	+			99					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.297C>T	CCDS33490.1																																																																																				0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		49	229	0	0	0	1	0	49	229				
UEVLD	55293	broad.mit.edu	37	11	18557951	18557951	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18557951A>G	ENST00000396197.3	-	10	1153		c.e10+1		UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_Splice_Site|UEVLD_ENST00000543987.1_Splice_Site	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTCAGTGTTACCTGTTGGAC	0.368																																						ENST00000396197.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.e10+1		UEV and lactate/malate dehyrogenase domains							157.0	145.0	149.0					11																	18557951		2199	4293	6492	SO:0001630	splice_region_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18557951A>G	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1124+1T>C	11.37:g.18557951A>G						UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_Splice_Site|UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site		NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN			10	1153	-									Splice_Site	SNP	ENST00000396197.3	37		CCDS41624.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309367	0.40895	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0631	0.53574	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UEVLD	18514527	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	4.689000	0.61723	2.167000	0.68274	0.374000	0.22700	.		0.368	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314	Intron	98	432	0	0	0	1	0	98	432				
MYO1B	4430	broad.mit.edu	37	2	192267420	192267420	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192267420T>G	ENST00000392318.3	+	24	2779	c.2532T>G	c.(2530-2532)atT>atG	p.I844M	MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	844	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTGCTGTCATTTGGGCTTACT	0.448																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2530-2532)atT>atG		myosin IB							174.0	140.0	151.0					2																	192267420		1568	3582	5150	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192267420T>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2532T>G	2.37:g.192267420T>G	ENSP00000376132:p.Ile844Met					MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M	p.I844M	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		24	2779	+			844			IQ 6.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2532T>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314215	0.81358	.	.	ENSG00000128641	ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;T;T	0.88354	-2.37;-2.37;-1.28;-1.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	N	0.08118	0	0.54753	D	0.999982	D;D	0.59357	0.985;0.98	P;D	0.66979	0.724;0.948	D	0.90115	0.4195	10	0.56958	D	0.05	.	14.5673	0.68185	0.0:0.0:0.0:1.0	.	89;844	E7EPB4;O43795	.;MYO1B_HUMAN	M	844;844;815;89	ENSP00000376132:I844M;ENSP00000306382:I844M;ENSP00000376130:I815M;ENSP00000391442:I89M	ENSP00000306382:I844M	I	+	3	3	MYO1B	191975665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.628000	0.67791	2.180000	0.69256	0.459000	0.35465	ATT		0.448	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		51	116	0	0	0	1	0	51	116				
CDH8	1006	broad.mit.edu	37	16	61761071	61761071	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61761071T>C	ENST00000577390.1	-	9	2417	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	CDH8_ENST00000299345.6_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G|CDH8_ENST00000577730.1_Missense_Mutation_p.D488G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	488	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCATTGACATCCAGCACTTT	0.403																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1462-1464)gAt>gGt		cadherin 8, type 2							191.0	174.0	180.0					16																	61761071		2203	4299	6502	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61761071T>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1463A>G	16.37:g.61761071T>C	ENSP00000462701:p.Asp488Gly					CDH8_ENST00000299345.6_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G|CDH8_ENST00000577730.1_Missense_Mutation_p.D488G	p.D488G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	9	2417	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	488			Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1463A>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.900754	0.92035	.	.	ENSG00000150394	ENST00000299345	T	0.02944	4.1	5.75	5.75	0.90469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	T	0.56956	-0.7893	10	0.87932	D	0	.	16.0588	0.80822	0.0:0.0:0.0:1.0	.	304;488	Q3LID3;P55286	.;CADH8_HUMAN	G	488	ENSP00000299345:D488G	ENSP00000299345:D488G	D	-	2	0	CDH8	60318572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	2.192000	0.70111	0.528000	0.53228	GAT		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		154	643	0	0	0	1	0	154	643				
CREBZF	58487	broad.mit.edu	37	11	85375468	85375468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85375468G>A	ENST00000527447.1	-	1	678	c.452C>T	c.(451-453)gCc>gTc	p.A151V	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	151					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCAGCCGCGGCCTCATCGTC	0.647																																					NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(451-453)gCc>gTc		CREB/ATF bZIP transcription factor							26.0	30.0	29.0					11																	85375468		2015	4189	6204	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375468G>A	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.452C>T	11.37:g.85375468G>A	ENSP00000433459:p.Ala151Val					CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V	p.A151V	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	678	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	151					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.452C>T	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349764	0.61183	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.56	4.56	0.56223	.	0.236704	0.24345	N	0.039330	T	0.24967	0.0606	N	0.14661	0.345	0.26011	N	0.98199	B	0.23377	0.084	B	0.18871	0.023	T	0.09271	-1.0682	8	.	.	.	-25.8693	12.725	0.57166	0.0:0.0:1.0:0.0	.	151	Q9NS37	ZHANG_HUMAN	V	69;151	.	.	A	-	2	0	CREBZF	85053116	0.998000	0.40836	0.995000	0.50966	0.699000	0.40488	1.618000	0.36954	2.366000	0.80165	0.561000	0.74099	GCC		0.647	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		80	264	0	0	0	1	0	80	264				
HTR2A	3356	broad.mit.edu	37	13	47409298	47409298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47409298C>T	ENST00000378688.4	-	3	1221	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	HTR2A_ENST00000543956.1_Missense_Mutation_p.V280M|HTR2A_ENST00000542664.1_Missense_Mutation_p.V364M			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	364					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAAACAAACACATTGAGCAGG	0.468																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1090-1092)Gtg>Atg		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						111.0	104.0	106.0					13																	47409298		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409298C>T	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1090G>A	13.37:g.47409298C>T	ENSP00000367959:p.Val364Met					HTR2A_ENST00000542664.1_Missense_Mutation_p.V364M|HTR2A_ENST00000543956.1_Missense_Mutation_p.V280M	p.V364M			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1221	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	364					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.1090G>A	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490649	0.44249	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.40756	1.02;1.02;1.02	5.65	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.144833	0.48286	D	0.000182	T	0.61689	0.2367	M	0.81112	2.525	0.46823	D	0.999214	D;D	0.53885	0.957;0.963	P;D	0.64877	0.753;0.93	T	0.64740	-0.6336	10	0.87932	D	0	.	9.9077	0.41386	0.0:0.8599:0.0:0.1401	.	280;364	F5GWE8;P28223	.;5HT2A_HUMAN	M	364;280;364	ENSP00000367959:V364M;ENSP00000441861:V280M;ENSP00000437737:V364M	ENSP00000367959:V364M	V	-	1	0	HTR2A	46307299	0.731000	0.28111	0.995000	0.50966	0.566000	0.35808	1.463000	0.35277	2.827000	0.97445	0.650000	0.86243	GTG		0.468	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		10	370	0	0	0	1	0	10	370				
CHMP5	51510	broad.mit.edu	37	9	33264396	33264396	+	5'Flank	SNP	T	T	C	rs574287414	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33264396T>C	ENST00000223500.8	+	0	0				BAG1_ENST00000472232.3_Missense_Mutation_p.T93A|BAG1_ENST00000379704.2_5'UTR|CHMP5_ENST00000419016.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCACTCAGGGTCAACTCCTCG	0.682																																						ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(277-279)Acc>Gcc		BCL2-associated athanogene							68.0	61.0	63.0					9																	33264396		2203	4300	6503	SO:0001631	upstream_gene_variant	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33264396T>C	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264396T>C	Exception_encountered					BAG1_ENST00000379704.2_5'UTR	p.T93A	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		1	363	-			93					B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.277A>G	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390391	0.25118	.	.	ENSG00000107262	ENST00000472232	.	.	.	3.11	-6.23	0.02052	.	1.430360	0.04945	N	0.459341	T	0.18341	0.0440	N	0.24115	0.695	0.22199	N	0.999295	B	0.02656	0.0	B	0.04013	0.001	T	0.11227	-1.0596	9	0.40728	T	0.16	1.6674	0.2882	0.00255	0.3607:0.1928:0.2285:0.218	.	93	Q99933	BAG1_HUMAN	A	93	.	ENSP00000420514:T93A	T	-	1	0	BAG1	33254396	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.981000	0.03766	-2.268000	0.00685	-1.281000	0.01382	ACC		0.682	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		55	266	0	0	0	1	0	55	266				
TRGC1	6966	broad.mit.edu	37	7	38299575	38299575	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38299575A>G	ENST00000443402.2	-	0	634					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											AATAGTACACACATGAGAACT	0.443																																						ENST00000443402.2																			0																																																			0							g.chr7:38299575A>G	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38299575A>G								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	634	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.443	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		12	39	0	0	0	1	0	12	39				
EPPK1	83481	broad.mit.edu	37	8	144942172	144942172	+	Silent	SNP	G	G	A	rs546164646	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144942172G>A	ENST00000525985.1	-	2	5321	c.5250C>T	c.(5248-5250)ccC>ccT	p.P1750P				P58107	EPIPL_HUMAN	epiplakin 1	1750						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.P1750P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCGTCTCGGGGTCCTCCA	0.547													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17666	0.001		0.0	False		,,,				2504	0.0					ENST00000525985.1																			1	Substitution - coding silent(1)	p.P1750P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5248-5250)ccC>ccT		epiplakin 1							100.0	104.0	102.0					8																	144942172		2008	4162	6170	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942172G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5250C>T	8.37:g.144942172G>A							p.P1750P			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5321	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1750					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.5250C>T																																																																																					0.547	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		92	401	0	0	0	1	0	92	401				
URB2	9816	broad.mit.edu	37	1	229773865	229773865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229773865G>A	ENST00000258243.2	+	4	3641	c.3505G>A	c.(3505-3507)Gcg>Acg	p.A1169T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1169						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCAGCTCTCGCGGGACATGA	0.522																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(3505-3507)Gcg>Acg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							138.0	141.0	140.0					1																	229773865		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773865G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3505G>A	1.37:g.229773865G>A	ENSP00000258243:p.Ala1169Thr						p.A1169T	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	3641	+			1169					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3505G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580204	0.28180	.	.	ENSG00000135763	ENST00000258243	T	0.31510	1.49	5.65	1.83	0.25207	.	0.663319	0.15700	N	0.248971	T	0.17534	0.0421	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.24119	-1.0169	9	.	.	.	-1.6535	6.2627	0.20910	0.2396:0.0:0.6339:0.1265	.	1169	Q14146	URB2_HUMAN	T	1169	ENSP00000258243:A1169T	.	A	+	1	0	URB2	227840488	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	1.662000	0.37418	0.149000	0.19098	0.585000	0.79938	GCG		0.522	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		15	449	0	0	0	1	0	15	449				
MYBPC3	4607	broad.mit.edu	37	11	47364609	47364609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47364609C>T	ENST00000545968.1	-	15	1368	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	MYBPC3_ENST00000256993.4_Silent_p.V437V|MYBPC3_ENST00000399249.2_Silent_p.V438V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	438	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCGCCACCCACCACGCACT	0.622																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(1312-1314)gtG>gtA		myosin binding protein C, cardiac							46.0	51.0	49.0					11																	47364609		2137	4243	6380	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47364609C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1314G>A	11.37:g.47364609C>T						MYBPC3_ENST00000256993.4_Silent_p.V437V|MYBPC3_ENST00000545968.1_Silent_p.V438V	p.V438V			Q14896	MYPC3_HUMAN		Lung(87;0.176)	14	1368	-			437			Ig-like C2-type 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.1314G>A	CCDS53621.1																																																																																				0.622	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			17	94	0	0	0	1	0	17	94				
GRIN2A	2903	broad.mit.edu	37	16	9862923	9862923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9862923G>T	ENST00000396573.2	-	13	2689	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	794					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGAGCCACAGGGTCTCCAGC	0.557																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2380-2382)Ctg>Atg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						108.0	90.0	96.0					16																	9862923		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862923G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2380C>A	16.37:g.9862923G>T	ENSP00000379818:p.Leu794Met					GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M	p.L794M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			13	2689	-			794					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2380C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544199	0.65198	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.068047	0.64402	D	0.000012	T	0.30039	0.0752	N	0.25647	0.755	0.37532	D	0.917965	P;P;P	0.51653	0.835;0.947;0.776	P;P;P	0.59825	0.676;0.864;0.567	T	0.08848	-1.0702	9	.	.	.	.	10.1679	0.42890	0.0923:0.0:0.9077:0.0	.	637;794;794	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	794;794;637;794;794	ENSP00000379818:L794M;ENSP00000385872:L794M;ENSP00000441572:L637M;ENSP00000332549:L794M;ENSP00000379820:L794M	.	L	-	1	2	GRIN2A	9770424	1.000000	0.71417	0.920000	0.36463	0.966000	0.64601	5.549000	0.67261	2.163000	0.67991	0.563000	0.77884	CTG		0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			59	301	1	0	7.73544e-29	1	9.01949e-29	59	301				
FERMT3	83706	broad.mit.edu	37	11	63978299	63978299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63978299C>T	ENST00000279227.5	+	3	472	c.377C>T	c.(376-378)gCc>gTc	p.A126V	FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	126					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTGTGGCTGCCATCTGCCGC	0.662																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(376-378)gCc>gTc		fermitin family member 3							50.0	58.0	55.0					11																	63978299		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978299C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.377C>T	11.37:g.63978299C>T	ENSP00000279227:p.Ala126Val					FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	p.A126V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			3	472	+			126					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.377C>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449334	0.43531	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.14640	2.49;2.49;2.49	3.68	0.445	0.16597	Band 4.1 domain (1);	0.159347	0.42964	D	0.000624	T	0.09512	0.0234	L	0.38175	1.15	0.32276	N	0.568278	B;B	0.19445	0.036;0.008	B;B	0.25140	0.058;0.011	T	0.14062	-1.0486	10	0.31617	T	0.26	-11.6903	6.2277	0.20718	0.6032:0.2977:0.0:0.0991	.	126;126	Q86UX7-2;Q86UX7	.;URP2_HUMAN	V	126	ENSP00000445778:A126V;ENSP00000339950:A126V;ENSP00000279227:A126V	ENSP00000279227:A126V	A	+	2	0	FERMT3	63734875	1.000000	0.71417	0.816000	0.32577	0.992000	0.81027	1.490000	0.35573	0.004000	0.14682	0.555000	0.69702	GCC		0.662	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		120	542	0	0	0	1	0	120	542				
PGBD5	79605	broad.mit.edu	37	1	230503803	230503803	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230503803C>T	ENST00000525115.1	-	1	148				PGBD5_ENST00000391860.1_Intron|PGBD5_ENST00000321327.2_Missense_Mutation_p.S71N			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5							integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCCTGGAAGGCTGGGTCTTTT	0.562																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(211-213)aGc>aAc		piggyBac transposable element derived 5							133.0	123.0	126.0					1																	230503803		2203	4300	6503	SO:0001627	intron_variant	79605					integral to membrane		g.chr1:230503803C>T	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.124+9440G>A	1.37:g.230503803C>T						PGBD5_ENST00000525115.1_Intron|PGBD5_ENST00000391860.1_Intron	p.S71N			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	2	211	-	Breast(184;0.0397)	Prostate(94;0.167)	0					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.212G>A		.	.	.	.	.	.	.	.	.	.	C	12.80	2.045635	0.36085	.	.	ENSG00000177614	ENST00000321327	T	0.22134	1.97	2.51	0.439	0.16567	.	9.012670	0.00616	U	0.000428	T	0.19046	0.0457	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	7	0.49607	T	0.09	-0.8471	3.7888	0.08712	0.0:0.5934:0.2535:0.1531	.	.	.	.	N	71	ENSP00000322530:S71N	ENSP00000322530:S71N	S	-	2	0	PGBD5	228570426	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.529000	0.06186	0.111000	0.17947	0.655000	0.94253	AGC		0.562	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		48	294	0	0	0	1	0	48	294				
KIF20B	9585	broad.mit.edu	37	10	91497999	91497999	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91497999C>A	ENST00000371728.3	+	20	3466	c.3401C>A	c.(3400-3402)aCt>aAt	p.T1134N	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N|KIF20B_ENST00000416354.1_Missense_Mutation_p.T1164N|KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1134					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAATGTTACTCTTGATGTT	0.343																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(3490-3492)aCt>aAt		kinesin family member 20B							67.0	76.0	73.0					10																	91497999		2202	4297	6499	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91497999C>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3401C>A	10.37:g.91497999C>A	ENSP00000360793:p.Thr1134Asn					KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N|KIF20B_ENST00000371728.3_Missense_Mutation_p.T1134N|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N|KIF20B_ENST00000478929.1_3'UTR	p.T1164N			Q96Q89	KI20B_HUMAN			20	3563	+			1134					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.3491C>A		.	.	.	.	.	.	.	.	.	.	C	0.022	-1.417123	0.01136	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.65916	-0.12;-0.13;-0.18;-0.12	5.87	-1.76	0.08006	.	1.060770	0.07276	N	0.869932	T	0.22437	0.0541	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11842	-1.0571	10	0.16420	T	0.52	0.8938	1.5837	0.02639	0.3529:0.2265:0.3063:0.1143	.	1134;1094	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	1094;1164;1134;1134	ENSP00000260753:T1094N;ENSP00000411545:T1164N;ENSP00000377830:T1134N;ENSP00000360793:T1134N	ENSP00000260753:T1094N	T	+	2	0	KIF20B	91487979	0.001000	0.12720	0.009000	0.14445	0.003000	0.03518	-0.241000	0.08940	-0.370000	0.08016	-0.940000	0.02684	ACT		0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		48	427	1	0	6.27289e-28	1	7.28045e-28	48	427				
IGHV7-81	28378	broad.mit.edu	37	14	107283063	107283063	+	RNA	SNP	C	C	T	rs371547571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107283063C>T	ENST00000390639.2	-	0	133									immunoglobulin heavy variable 7-81 (non-functional)																		CACCTCATGGCCAGACTGCAC	0.582																																						ENST00000390639.2																			0																				125.0	134.0	131.0					14																	107283063		1982	4158	6140			0							g.chr14:107283063C>T	Z27509		14q32.33	2012-02-08	2008-09-09		ENSG00000211979	ENSG00000211979		"""Immunoglobulins / IGH locus"""	5669	other	immunoglobulin gene			"""immunoglobulin heavy variable 7-81"""				Standard	NG_001019		Approved				OTTHUMG00000151731		14.37:g.107283063C>T														0	133	-									RNA	SNP	ENST00000390639.2	37																																																																																						0.582	IGHV7-81-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323700.2	NG_001019		128	621	0	0	0	1	0	128	621				
HIPK2	28996	broad.mit.edu	37	7	139285255	139285255	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139285255C>A	ENST00000406875.3	-	11	2437	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	781	Interaction with CTBP1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CATTTAAGGGCTGTGCTGCTG	0.557																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2341-2343)caG>caT		homeodomain interacting protein kinase 2							102.0	107.0	105.0					7																	139285255		2143	4243	6386	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285255C>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2343G>T	7.37:g.139285255C>A	ENSP00000385571:p.Gln781His					HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H	p.Q781H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			11	2437	-	Melanoma(164;0.205)		781			Interaction with CTBP1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2343G>T		.	.	.	.	.	.	.	.	.	.	C	14.50	2.553352	0.45487	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.27720	1.65;1.65;1.65	4.84	0.716	0.18191	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.40005	D	0.975215	D;D	0.63046	0.992;0.988	D;D	0.74674	0.976;0.984	T	0.41752	-0.9491	8	0.49607	T	0.09	.	7.4575	0.27274	0.0:0.6539:0.1212:0.2249	.	781;754	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	781;754;781	ENSP00000385571:Q781H;ENSP00000413724:Q754H;ENSP00000343108:Q781H	ENSP00000343108:Q781H	Q	-	3	2	HIPK2	138935795	1.000000	0.71417	0.999000	0.59377	0.460000	0.32559	1.702000	0.37836	0.258000	0.21686	-0.157000	0.13467	CAG		0.557	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		48	243	1	0	1.48734e-19	1	1.65976e-19	48	243				
SEPT4	5414	broad.mit.edu	37	17	56598178	56598178	+	Missense_Mutation	SNP	C	C	T	rs369282254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56598178C>T	ENST00000317268.3	-	11	1479	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	SEPT4_ENST00000426861.1_3'UTR|MTMR4_ENST00000579925.1_5'Flank|SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N|SEPT4_ENST00000457347.2_Missense_Mutation_p.D450N|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|MTMR4_ENST00000323456.5_5'Flank|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|SEPT4_ENST00000579371.1_Intron	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	435					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGAAGTCGGTACCACTT	0.537											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000457347.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1348-1350)Gac>Aac		septin 4		C	ASN/ASP,ASN/ASP,,ASN/ASP	0,4406		0,0,2203	151.0	148.0	149.0		1279,1303,,1246	5.6	1.0	17		149	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,missense	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	23,23,,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	427/471,435/479,,416/460	56598178	1,13005	2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56598178C>T	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1303G>A	17.37:g.56598178C>T	ENSP00000321674:p.Asp435Asn		OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	SEPT4_ENST00000317268.3_Missense_Mutation_p.D435N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N	p.D450N	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN			12	1492	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		435					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.1348G>A	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532635	0.45073	0.0	1.16E-4	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.53206	0.63;0.64;0.63;0.64	5.62	5.62	0.85841	.	0.293457	0.38837	N	0.001547	T	0.61198	0.2328	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.928;1.0	D;D;D;B;D	0.83275	0.969;0.996;0.969;0.373;0.932	T	0.56414	-0.7983	10	0.39692	T	0.17	.	17.5005	0.87730	0.0:1.0:0.0:0.0	.	427;450;416;288;435	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	N	427;449;416;435;416	ENSP00000414779:D427N;ENSP00000321071:D416N;ENSP00000321674:D435N;ENSP00000376801:D416N	ENSP00000321071:D416N	D	-	1	0	SEPT4	53953177	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.717000	0.84732	2.795000	0.96236	0.655000	0.94253	GAC		0.537	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		30	777	0	0	0	1	0	30	777				
ZFYVE16	9765	broad.mit.edu	37	5	79732719	79732719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79732719G>T	ENST00000338008.5	+	3	395	c.215G>T	c.(214-216)aGc>aTc	p.S72I	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	72					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAGAAACAAGCTATGGAACA	0.393																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(214-216)aGc>aTc		zinc finger, FYVE domain containing 16							71.0	69.0	70.0					5																	79732719		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79732719G>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.215G>T	5.37:g.79732719G>T	ENSP00000337159:p.Ser72Ile					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I	p.S72I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	395	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	72					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.215G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	3.759	-0.049963	0.07407	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36699	1.24;1.24;1.24	5.31	4.36	0.52297	.	0.596060	0.16043	N	0.232353	T	0.13927	0.0337	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.10520	-1.0626	10	0.25751	T	0.34	-0.7589	7.1536	0.25624	0.0:0.1395:0.5735:0.2871	.	72;72	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	I	72	ENSP00000337159:S72I;ENSP00000423663:S72I;ENSP00000426848:S72I	ENSP00000337159:S72I	S	+	2	0	ZFYVE16	79768475	0.090000	0.21635	0.945000	0.38365	0.222000	0.24845	1.340000	0.33896	2.489000	0.83994	0.467000	0.42956	AGC		0.393	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		71	315	1	0	1.55545e-33	1	1.84439e-33	71	315				
SGK3	23678	broad.mit.edu	37	8	67771751	67771751	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67771751T>G	ENST00000396596.1	+	17	1640	c.1426T>G	c.(1426-1428)Ttg>Gtg	p.L476V	SGK3_ENST00000520976.1_Missense_Mutation_p.L444V|SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V|SGK3_ENST00000521198.2_Missense_Mutation_p.L476V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	476	AGC-kinase C-terminal.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCCAGTGTATTGGAGGCAGA	0.378																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1426-1428)Ttg>Gtg		serum/glucocorticoid regulated kinase family, member 3							265.0	223.0	237.0					8																	67771751		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67771751T>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1426T>G	8.37:g.67771751T>G	ENSP00000379842:p.Leu476Val					SGK3_ENST00000520976.1_Missense_Mutation_p.L444V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V|SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|SGK3_ENST00000521198.2_Missense_Mutation_p.L476V	p.L476V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		17	1640	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	476			AGC-kinase C-terminal.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.1426T>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	T	9.869	1.198526	0.22037	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.41	-0.871	0.10642	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.112392	0.64402	D	0.000012	T	0.34890	0.0913	L	0.45470	1.425	0.32286	N	0.566956	B;B	0.11235	0.004;0.002	B;B	0.18561	0.022;0.017	T	0.08994	-1.0695	9	0.29301	T	0.29	.	1.8129	0.03094	0.228:0.4477:0.1051:0.2193	.	444;476	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	V	476;476;476;476;444;476;476	ENSP00000429022:L476V;ENSP00000430463:L476V;ENSP00000430256:L476V;ENSP00000430691:L444V;ENSP00000379842:L476V;ENSP00000331816:L476V	ENSP00000262211:L476V	L	+	1	2	SGK3	67934305	0.736000	0.28164	0.297000	0.24988	0.994000	0.84299	1.425000	0.34859	-0.067000	0.12976	0.528000	0.53228	TTG		0.378	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			89	365	0	0	0	1	0	89	365				
ITGA8	8516	broad.mit.edu	37	10	15573078	15573078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15573078G>A	ENST00000378076.3	-	28	3306	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	985					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTTTTGCTGGCTGATCTGTA	0.313																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2953-2955)Cca>Tca		integrin, alpha 8							100.0	100.0	100.0					10																	15573078		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15573078G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2953C>T	10.37:g.15573078G>A	ENSP00000367316:p.Pro985Ser						p.P985S	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			28	3306	-			985					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2953C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411702	0.83340	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.51574	0.7	5.64	5.64	0.86602	.	0.047545	0.85682	D	0.000000	T	0.64360	0.2591	M	0.69823	2.125	0.51767	D	0.99993	D;D	0.65815	0.995;0.992	P;P	0.58130	0.833;0.685	T	0.59679	-0.7409	10	0.28530	T	0.3	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	970;985	F5H818;P53708	.;ITA8_HUMAN	S	985;970	ENSP00000367316:P985S	ENSP00000367316:P985S	P	-	1	0	ITGA8	15613084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.038000	0.70964	2.651000	0.90000	0.643000	0.83706	CCA		0.313	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		24	611	0	0	0	1	0	24	611				
SPPL2B	56928	broad.mit.edu	37	19	2334702	2334702	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2334702G>A	ENST00000452401.2	+	0	248							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.P56P(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTTCCGCACGACCTCA	0.677																																						ENST00000452401.2																			1	Substitution - coding silent(1)	p.P56P(1)	lung(1)										signal peptide peptidase like 2B							34.0	37.0	36.0					19																	2334702		1983	4139	6122			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2334702G>A		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2334702G>A						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	248	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	37																																																																																						0.677	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		25	90	0	0	0	1	0	25	90				
MYO9A	4649	broad.mit.edu	37	15	72119059	72119059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119059C>A	ENST00000356056.5	-	42	7981	c.7509G>T	c.(7507-7509)aaG>aaT	p.K2503N	MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2503	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTCACATTCTTTAATTTTT	0.488																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(7507-7509)aaG>aaT		myosin IXA							152.0	157.0	156.0					15																	72119059		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72119059C>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7509G>T	15.37:g.72119059C>A	ENSP00000348349:p.Lys2503Asn					MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N	p.K2503N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7981	-			2503			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.7509G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276009	0.59649	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.87571	-2.27;-2.27;-2.26	5.2	4.28	0.50868	.	.	.	.	.	D	0.86264	0.5891	L	0.32530	0.975	0.40054	D	0.975819	D;D	0.63046	0.986;0.992	P;P	0.55923	0.738;0.787	D	0.86612	0.1873	9	0.62326	D	0.03	.	10.2152	0.43164	0.0:0.8455:0.0:0.1544	.	2503;2267	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	N	2503;2574;2484	ENSP00000348349:K2503N;ENSP00000399162:K2574N;ENSP00000398250:K2484N	ENSP00000348349:K2503N	K	-	3	2	MYO9A	69906113	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.348000	0.33987	1.164000	0.42652	0.563000	0.77884	AAG		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		138	696	1	0	7.9951e-93	1	1.0271e-92	138	696				
AMPH	273	broad.mit.edu	37	7	38475924	38475924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38475924G>A	ENST00000356264.2	-	12	1297	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	AMPH_ENST00000325590.5_Missense_Mutation_p.P361L|AMPH_ENST00000428293.2_Missense_Mutation_p.P361L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	361					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGTCACCTCGGGCTTGAAAGG	0.433																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1081-1083)cCc>cTc		amphiphysin							85.0	76.0	79.0					7																	38475924		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38475924G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1082C>T	7.37:g.38475924G>A	ENSP00000348602:p.Pro361Leu					AMPH_ENST00000325590.5_Missense_Mutation_p.P361L|AMPH_ENST00000428293.2_Missense_Mutation_p.P361L	p.P361L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			12	1297	-			361					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1082C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924949	0.73213	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.72051	-0.62;-0.62;-0.62	5.54	4.65	0.58169	.	0.185220	0.47852	D	0.000205	D	0.82453	0.5040	M	0.70275	2.135	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.903	D;D;B	0.91635	0.999;0.999;0.351	D	0.83511	0.0080	10	0.56958	D	0.05	-7.7829	14.7794	0.69754	0.0705:0.0:0.9295:0.0	.	361;361;117	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	L	361;361;361;131;364	ENSP00000317441:P361L;ENSP00000348602:P361L;ENSP00000390734:P361L	ENSP00000317441:P361L	P	-	2	0	AMPH	38442449	1.000000	0.71417	0.961000	0.40146	0.733000	0.41908	5.157000	0.64911	2.609000	0.88269	0.655000	0.94253	CCC		0.433	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		37	181	0	0	0	1	0	37	181				
C17orf75	64149	broad.mit.edu	37	17	30666953	30666953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30666953A>G	ENST00000577809.1	-	3	275	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	76										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCTGCCAAGGAGAGGCTTGAC	0.473																																						ENST00000577809.1																			0				ovary(1)	1						c.(226-228)Tcc>Ccc		chromosome 17 open reading frame 75							73.0	71.0	72.0					17																	30666953		1929	4153	6082	SO:0001583	missense	64149				spermatogenesis			g.chr17:30666953A>G	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.226T>C	17.37:g.30666953A>G	ENSP00000464275:p.Ser76Pro					C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P|RP11-227G15.3_ENST00000581915.1_RNA	p.S76P	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	275	-		Breast(31;0.116)|Ovarian(249;0.182)	76					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.226T>C	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326033	0.41197	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.49	5.49	0.81192	.	0.172475	0.51477	D	0.000084	T	0.77054	0.4074	M	0.61703	1.905	0.43879	D	0.996495	D	0.89917	1.0	D	0.85130	0.997	T	0.79662	-0.1710	9	0.87932	D	0	-4.6812	15.5785	0.76414	1.0:0.0:0.0:0.0	.	76	Q9HAS0	NJMU_HUMAN	P	76	.	ENSP00000225805:S76P	S	-	1	0	C17orf75	27691066	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.206000	0.65192	2.080000	0.62538	0.528000	0.53228	TCC		0.473	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		57	193	0	0	0	1	0	57	193				
ERCC4	2072	broad.mit.edu	37	16	14041754	14041754	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14041754C>T	ENST00000311895.7	+	11	2310	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	767	Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCAAGCCTTTCTCTCTCACTT	0.498			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(2299-2301)ttC>ttT	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							122.0	118.0	119.0					16																	14041754		2197	4300	6497	SO:0001819	synonymous_variant	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14041754C>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2301C>T	16.37:g.14041754C>T							p.F767F	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			11	2310	+			767			Interaction with EME1 and ERCC1.		A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	c.2301C>T	CCDS32390.1																																																																																				0.498	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		111	470	0	0	0	1	0	111	470				
SLC50A1	55974	broad.mit.edu	37	1	155108449	155108449	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155108449G>A	ENST00000368404.4	+	1	124	c.62G>A	c.(61-63)gGc>gAc	p.G21D	SLC50A1_ENST00000303343.8_Missense_Mutation_p.G21D|SLC50A1_ENST00000368401.5_Nonsense_Mutation_p.W7*|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	21	MtN3/slv 1.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TTCACCCTTGGCATGTTCTCC	0.652																																						ENST00000368401.5																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(19-21)tgG>tgA		solute carrier family 50 (sugar efflux transporter), member 1							34.0	31.0	32.0					1																	155108449		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155108449G>A	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.62G>A	1.37:g.155108449G>A	ENSP00000357389:p.Gly21Asp					SLC50A1_ENST00000368404.4_Missense_Mutation_p.G21D|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.G21D|SLC50A1_ENST00000484157.1_Intron	p.W7*	NM_001122837.1	NP_001116309.1	Q9BRV3	SWET1_HUMAN			1	116	+			0					Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Nonsense_Mutation	SNP	ENST00000368404.4	37	c.21G>A	CCDS1093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.472317|5.472317	0.96274|0.96274	.|.	.|.	ENSG00000169241|ENSG00000169241	ENST00000303343;ENST00000368404|ENST00000368401	.|.	.|.	.|.	4.85|4.85	1.56|1.56	0.23342|0.23342	.|.	0.206494|.	0.40064|.	N|.	0.001183|.	T|.	0.26666|.	0.0652|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	B;B|.	0.25272|.	0.122;0.024|.	B;B|.	0.28784|.	0.094;0.041|.	T|.	0.08146|.	-1.0736|.	7|.	0.35671|0.16420	T|T	0.21|0.52	-0.6989|-0.6989	12.2061|12.2061	0.54353|0.54353	0.0:0.5144:0.4856:0.0|0.0:0.5144:0.4856:0.0	.|.	21;21|.	Q9BRV3-3;Q9BRV3|.	.;SWET1_HUMAN|.	D|X	21|7	.|.	ENSP00000306146:G21D|ENSP00000357386:W7X	G|W	+|+	2|3	0|0	SLC50A1|SLC50A1	153375073|153375073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	1.379000|1.379000	0.34340|0.34340	0.521000|0.521000	0.28445|0.28445	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.652	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		10	174	0	0	0	1	0	10	174				
FAN1	22909	broad.mit.edu	37	15	31202973	31202973	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31202973C>A	ENST00000362065.4	+	4	1823	c.1532C>A	c.(1531-1533)aCt>aAt	p.T511N	FAN1_ENST00000561607.1_Missense_Mutation_p.T511N|FAN1_ENST00000565466.1_Missense_Mutation_p.T511N|FAN1_ENST00000561594.1_Missense_Mutation_p.T511N	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	511					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.T511N(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCAGTCTGCACTTGGGGCAAG	0.413								Direct reversal of damage																														ENST00000362065.4																			1	Substitution - Missense(1)	p.T511N(1)	lung(1)	autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1531-1533)aCt>aAt	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							90.0	86.0	87.0					15																	31202973		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202973C>A		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1532C>A	15.37:g.31202973C>A	ENSP00000354497:p.Thr511Asn					FAN1_ENST00000561607.1_Missense_Mutation_p.T511N|FAN1_ENST00000561594.1_Missense_Mutation_p.T511N|FAN1_ENST00000565466.1_Missense_Mutation_p.T511N	p.T511N	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			4	1823	+			511					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.1532C>A	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	9.520	1.108083	0.20714	.	.	ENSG00000198690	ENST00000362065	T	0.36878	1.23	5.6	1.21	0.21127	.	0.565661	0.20069	N	0.099906	T	0.18635	0.0447	L	0.29908	0.895	0.22819	N	0.998691	B;B;B	0.32350	0.009;0.037;0.366	B;B;B	0.30646	0.007;0.008;0.118	T	0.06534	-1.0821	10	0.27785	T	0.31	-4.9661	1.6852	0.02840	0.1502:0.4437:0.2224:0.1837	.	511;511;511	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	N	511	ENSP00000354497:T511N	ENSP00000354497:T511N	T	+	2	0	FAN1	28990265	0.525000	0.26290	0.600000	0.28864	0.198000	0.23893	0.843000	0.27640	0.742000	0.32697	-0.253000	0.11424	ACT		0.413	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		56	190	1	0	6.176e-18	1	6.83652e-18	56	190				
HNRNPA0	10949	broad.mit.edu	37	5	137089524	137089524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089524C>T	ENST00000314940.4	-	1	515	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	78	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTTCAGCTCCACAGTGTTG	0.652																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(232-234)Gag>Aag		heterogeneous nuclear ribonucleoprotein A0							46.0	50.0	49.0					5																	137089524		2201	4298	6499	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089524C>T	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.232G>A	5.37:g.137089524C>T	ENSP00000316042:p.Glu78Lys						p.E78K	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	515	-			78			RRM 1.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.232G>A	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323860	0.95708	.	.	ENSG00000177733	ENST00000314940	D	0.91894	-2.93	4.97	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	D	0.94512	0.8233	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	D	0.94705	0.7887	10	0.87932	D	0	.	14.475	0.67539	0.1482:0.8517:0.0:0.0	.	78	Q13151	ROA0_HUMAN	K	78	ENSP00000316042:E78K	ENSP00000316042:E78K	E	-	1	0	HNRNPA0	137117423	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.027000	0.70881	1.036000	0.39998	0.305000	0.20034	GAG		0.652	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		19	526	0	0	0	1	0	19	526				
MSH4	4438	broad.mit.edu	37	1	76343977	76343977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76343977A>G	ENST00000263187.3	+	11	1618	c.1514A>G	c.(1513-1515)tAc>tGc	p.Y505C		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	505					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAAGAACATACACAGAGATT	0.363								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1513-1515)tAc>tGc	Mismatch excision repair (MMR)	mutS homolog 4							117.0	113.0	114.0					1																	76343977		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76343977A>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1514A>G	1.37:g.76343977A>G	ENSP00000263187:p.Tyr505Cys						p.Y505C	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			11	1618	+			505					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1514A>G	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135364	0.77662	.	.	ENSG00000057468	ENST00000263187	D	0.89810	-2.57	5.49	5.49	0.81192	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.123368	0.56097	D	0.000025	D	0.94515	0.8234	M	0.88310	2.945	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.95277	0.8382	10	0.62326	D	0.03	-2.2644	15.5975	0.76599	1.0:0.0:0.0:0.0	.	505	O15457	MSH4_HUMAN	C	505	ENSP00000263187:Y505C	ENSP00000263187:Y505C	Y	+	2	0	MSH4	76116565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.905000	0.92613	2.082000	0.62665	0.528000	0.53228	TAC		0.363	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		36	249	0	0	0	1	0	36	249				
FMN2	56776	broad.mit.edu	37	1	240256734	240256734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256734G>A	ENST00000319653.9	+	1	1555	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	442					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCCCCAGGATCAAGAGG	0.672																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1324-1326)aGg>aAg		formin 2							47.0	54.0	52.0					1																	240256734		2200	4295	6495	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256734G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1325G>A	1.37:g.240256734G>A	ENSP00000318884:p.Arg442Lys						p.R442K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1555	+	Ovarian(103;0.127)	all_cancers(173;0.013)	442					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1325G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101876	0.37048	.	.	ENSG00000155816	ENST00000319653	T	0.80994	-1.44	4.51	3.6	0.41247	.	0.301205	0.27981	N	0.017078	T	0.63768	0.2539	L	0.27053	0.805	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	T	0.54516	-0.8282	10	0.25106	T	0.35	.	4.2569	0.10721	0.1893:0.0:0.5758:0.2349	.	442	Q9NZ56	FMN2_HUMAN	K	442	ENSP00000318884:R442K	ENSP00000318884:R442K	R	+	2	0	FMN2	238323357	0.974000	0.33945	1.000000	0.80357	0.976000	0.68499	1.751000	0.38339	1.105000	0.41606	0.563000	0.77884	AGG		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		122	400	0	0	0	1	0	122	400				
GXYLT1	283464	broad.mit.edu	37	12	42499768	42499768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42499768G>A	ENST00000398675.3	-	5	948	c.716C>T	c.(715-717)aCa>aTa	p.T239I	GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	239					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AGCAATTTGTGTGGAATTAAA	0.368																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(715-717)aCa>aTa		glucoside xylosyltransferase 1							93.0	87.0	89.0					12																	42499768		1854	4102	5956	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42499768G>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.716C>T	12.37:g.42499768G>A	ENSP00000381666:p.Thr239Ile					GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	p.T239I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			5	948	-			239					B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.716C>T	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655056	0.88056	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.39787	1.06;1.06	6.07	6.07	0.98685	.	0.090831	0.85682	D	0.000000	T	0.61489	0.2351	M	0.78916	2.43	0.58432	D	0.999994	P;P	0.49090	0.9;0.919	P;P	0.52598	0.578;0.703	T	0.61322	-0.7086	10	0.54805	T	0.06	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	208;239	Q4G148-2;Q4G148	.;GXLT1_HUMAN	I	239;208	ENSP00000381666:T239I;ENSP00000280876:T208I	ENSP00000280876:T208I	T	-	2	0	GXYLT1	40786035	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.533000	0.67160	2.885000	0.99019	0.655000	0.94253	ACA		0.368	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		78	270	0	0	0	1	0	78	270				
METTL7B	196410	broad.mit.edu	37	12	56075767	56075767	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56075767C>A	ENST00000394252.3	+	1	438	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	77							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						CCTACTGGAGCTGGGCTGCGG	0.572																																						ENST00000394252.3																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(229-231)Ctg>Atg		methyltransferase like 7B							52.0	52.0	52.0					12																	56075767		2203	4300	6503	SO:0001583	missense	196410						methyltransferase activity	g.chr12:56075767C>A		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.229C>A	12.37:g.56075767C>A	ENSP00000377796:p.Leu77Met						p.L77M	NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN			1	438	+			77					A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	c.229C>A	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567759	0.65651	.	.	ENSG00000170439	ENST00000394252	T	0.12672	2.66	4.96	2.08	0.27032	Methyltransferase type 11 (1);	0.300406	0.32328	N	0.006246	T	0.33904	0.0879	M	0.82193	2.58	0.37317	D	0.909383	D	0.57899	0.981	D	0.65573	0.936	T	0.24870	-1.0148	10	0.87932	D	0	-31.231	8.4467	0.32847	0.0:0.6244:0.2933:0.0824	.	77	Q6UX53	MET7B_HUMAN	M	77	ENSP00000377796:L77M	ENSP00000377796:L77M	L	+	1	2	METTL7B	54362034	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.480000	0.35464	0.257000	0.21650	0.655000	0.94253	CTG		0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		35	140	1	0	1.22384e-17	1	1.35282e-17	35	140				
GPR123	84435	broad.mit.edu	37	10	134884441	134884441	+	Silent	SNP	C	C	T	rs576801168		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134884441C>T	ENST00000607359.1	+	1	9	c.9C>T	c.(7-9)ggC>ggT	p.G3G				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGATGCGAGGCCACGGGAACC	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17204	0.0		0.0	False		,,,				2504	0.0					ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(7-9)ggC>ggT		G protein-coupled receptor 123							20.0	20.0	20.0					10																	134884441		1566	3571	5137	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134884441C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.9C>T	10.37:g.134884441C>T							p.G3G			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	1	9	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000607359.1	37	c.9C>T																																																																																					0.637	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			5	74	0	0	0	1	0	5	74				
HRASLS	57110	broad.mit.edu	37	3	192973503	192973503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192973503G>A	ENST00000602513.1	+	2	473	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	HRASLS_ENST00000264735.2_Missense_Mutation_p.E127K			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	22					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GGACTTGATCGAAGTGTTCCG	0.478																																						ENST00000264735.2																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10						c.(379-381)Gaa>Aaa		HRAS-like suppressor							185.0	171.0	176.0					3																	192973503		2203	4300	6503	SO:0001583	missense	57110							g.chr3:192973503G>A	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.64G>A	3.37:g.192973503G>A	ENSP00000473258:p.Glu22Lys					HRASLS_ENST00000602513.1_Missense_Mutation_p.E22K	p.E127K	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	2	473	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		22					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.302243	0.95601	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85977	0.1480	9	0.87932	D	0	-1.7689	18.5869	0.91192	0.0:0.0:1.0:0.0	.	22	Q9HDD0	HRSL1_HUMAN	K	22	.	ENSP00000264735:E22K	E	+	1	0	HRASLS	194456197	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.963000	0.93385	2.868000	0.98415	0.557000	0.71058	GAA		0.478	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				132	650	0	0	0	1	0	132	650				
GLRB	2743	broad.mit.edu	37	4	158057850	158057850	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:158057850G>A	ENST00000264428.4	+	5	797	c.527G>A	c.(526-528)aGg>aAg	p.R176K	GLRB_ENST00000509282.1_Splice_Site_p.R176K|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site_p.R176K	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	176					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTCAGCATGAGGTACTCTTTT	0.313																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.e5+1		glycine receptor, beta	Glycine(DB00145)						102.0	104.0	103.0					4																	158057850		2203	4299	6502	SO:0001630	splice_region_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158057850G>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.527+1G>A	4.37:g.158057850G>A						GLRB_ENST00000541722.1_Splice_Site_p.R176_splice|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Splice_Site_p.R176_splice	p.R176_splice	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	5	797	+	all_hematologic(180;0.24)	Renal(120;0.0458)	176					A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	ENST00000264428.4	37	c.527_splice	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999186	0.93227	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.80994	-1.44;-1.44;-1.44	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.73430	2.235	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	D	0.90671	0.4598	10	0.87932	D	0	.	19.0435	0.93011	0.0:0.0:1.0:0.0	.	176	P48167	GLRB_HUMAN	K	176	ENSP00000264428:R176K;ENSP00000441873:R176K;ENSP00000427186:R176K	ENSP00000264428:R176K	R	+	2	0	GLRB	158277300	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.807000	0.99171	2.487000	0.83934	0.557000	0.71058	AGG		0.313	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	Missense_Mutation	14	431	0	0	0	1	0	14	431				
NGF	4803	broad.mit.edu	37	1	115829359	115829359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829359G>A	ENST00000369512.2	-	3	226	c.58C>T	c.(58-60)Cca>Tca	p.P20S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	20					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGAGTGTGGTTCCGCCTGT	0.512																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(58-60)Cca>Tca		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						126.0	101.0	109.0					1																	115829359		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829359G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.58C>T	1.37:g.115829359G>A	ENSP00000358525:p.Pro20Ser					RP4-663N10.1_ENST00000425449.1_RNA	p.P20S	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	226	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	20					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.58C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121881	0.56613	.	.	ENSG00000134259	ENST00000369512	T	0.64085	-0.08	5.36	2.37	0.29283	.	0.115420	0.64402	D	0.000017	T	0.39279	0.1072	L	0.56280	1.765	0.42726	D	0.993697	B	0.10296	0.003	B	0.11329	0.006	T	0.43393	-0.9394	10	0.59425	D	0.04	-2.5373	10.2581	0.43410	0.0725:0.2513:0.6762:0.0	.	20	P01138	NGF_HUMAN	S	20	ENSP00000358525:P20S	ENSP00000358525:P20S	P	-	1	0	NGF	115630882	1.000000	0.71417	0.882000	0.34594	0.722000	0.41435	3.015000	0.49599	0.614000	0.30107	0.467000	0.42956	CCA		0.512	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		49	327	0	0	0	1	0	49	327				
DDX60L	91351	broad.mit.edu	37	4	169312748	169312748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169312748G>A	ENST00000511577.1	-	29	4105	c.3858C>T	c.(3856-3858)tgC>tgT	p.C1286C	DDX60L_ENST00000260184.7_Silent_p.C1286C|DDX60L_ENST00000505890.1_Silent_p.C1287C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1286	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAACAGATTTGCATGGCATGT	0.378																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3856-3858)tgC>tgT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							86.0	84.0	85.0					4																	169312748		1945	4195	6140	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169312748G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3858C>T	4.37:g.169312748G>A						DDX60L_ENST00000260184.7_Silent_p.C1286C|DDX60L_ENST00000505890.1_Silent_p.C1287C	p.C1286C			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	29	4105	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1286			Helicase C-terminal.		Q96ND6	Silent	SNP	ENST00000511577.1	37	c.3858C>T		.	.	.	.	.	.	.	.	.	.	G	7.532	0.658798	0.14645	.	.	ENSG00000181381	ENST00000514580	.	.	.	3.61	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8765	0.24149	0.6716:0.0:0.3284:0.0	.	.	.	.	X	174	.	.	Q	-	1	0	DDX60L	169549323	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	1.312000	0.33574	0.273000	0.22049	-0.373000	0.07131	CAA		0.378	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		10	64	0	0	0	1	0	10	64				
ELFN2	114794	broad.mit.edu	37	22	37769658	37769658	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769658G>A	ENST00000402918.2	-	3	2702	c.1917C>T	c.(1915-1917)agC>agT	p.S639S	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	639					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGACCTTGGCGCTCTTGATGG	0.652																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1915-1917)agC>agT		extracellular leucine-rich repeat and fibronectin type III domain containing 2							13.0	12.0	12.0					22																	37769658		2176	4248	6424	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769658G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1917C>T	22.37:g.37769658G>A						ELFN2_ENST00000349653.3_Silent_p.S639S|RP1-63G5.5_ENST00000430883.1_RNA	p.S639S	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2702	-	Melanoma(58;0.0574)		639					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1917C>T	CCDS33642.1																																																																																				0.652	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		28	109	0	0	0	1	0	28	109				
OR10C1	442194	broad.mit.edu	37	6	29408493	29408493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408493G>A	ENST00000444197.2	+	1	1411	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGGGCCGCCGCAAGGCCTTC	0.592																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(700-702)cGc>cAc		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							237.0	264.0	254.0					6																	29408493		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408493G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.701G>A	6.37:g.29408493G>A	ENSP00000419119:p.Arg234His					OR11A1_ENST00000377149.1_Intron	p.R234H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1411	+			234					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.701G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.683637	0.00745	.	.	ENSG00000206474	ENST00000444197	T	0.00034	8.87	3.49	-0.841	0.10752	GPCR, rhodopsin-like superfamily (1);	0.381454	0.19248	N	0.119008	T	0.00012	0.0000	N	0.11927	0.2	0.09310	N	0.999999	B	0.10296	0.003	B	0.16289	0.015	T	0.37174	-0.9717	10	0.10111	T	0.7	.	4.6493	0.12587	0.4259:0.0:0.429:0.1451	.	234	Q96KK4	O10C1_HUMAN	H	234	ENSP00000419119:R234H	ENSP00000419119:R234H	R	+	2	0	OR10C1	29516472	0.000000	0.05858	0.049000	0.19019	0.015000	0.08874	-1.504000	0.02275	-0.486000	0.06744	-0.332000	0.08345	CGC		0.592	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			69	1598	0	0	0	1	0	69	1598				
PTCHD4	442213	broad.mit.edu	37	6	47846053	47846053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47846053C>T	ENST00000339488.4	-	3	2560	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	843						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ACTGTGGTGACGTGATCCGGG	0.453																																						ENST00000339488.4																			0											c.(2527-2529)Gtc>Atc		patched domain containing 4							153.0	156.0	155.0					6																	47846053		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846053C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2527G>A	6.37:g.47846053C>T	ENSP00000341914:p.Val843Ile						p.V843I	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2560	-			843					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2527G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336091	0.24253	.	.	ENSG00000244694	ENST00000339488	D	0.92495	-3.05	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	N	0.02916	-0.46	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81883	-0.0728	10	0.02654	T	1	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	843	Q6ZW05	CF138_HUMAN	I	843	ENSP00000341914:V843I	ENSP00000341914:V843I	V	-	1	0	C6orf138	47954012	1.000000	0.71417	0.986000	0.45419	0.959000	0.62525	7.175000	0.77632	2.850000	0.98022	0.650000	0.86243	GTC		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		128	613	0	0	0	1	0	128	613				
RICTOR	253260	broad.mit.edu	37	5	38950285	38950285	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950285G>A	ENST00000357387.3	-	31	3695	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I	RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTAGTGTCTGTATTGAAACT	0.418																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3664-3666)aCa>aTa		RPTOR independent companion of MTOR, complex 2							238.0	224.0	229.0					5																	38950285		2203	4298	6501	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950285G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3665C>T	5.37:g.38950285G>A	ENSP00000349959:p.Thr1222Ile					RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	p.T1222I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			31	3695	-	all_lung(31;0.000396)		1222						Missense_Mutation	SNP	ENST00000357387.3	37	c.3665C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034996	0.75617	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66460	0.41;-0.21	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82659	-0.0348	10	0.87932	D	0	-17.4192	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1222;1222	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	1222	ENSP00000349959:T1222I;ENSP00000296782:T1222I	ENSP00000296782:T1222I	T	-	2	0	RICTOR	38986042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.132000	0.94455	2.937000	0.99478	0.650000	0.86243	ACA		0.418	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		236	955	0	0	0	1	0	236	955				
LRP2	4036	broad.mit.edu	37	2	170027155	170027155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170027155G>A	ENST00000263816.3	-	59	11571	c.11286C>T	c.(11284-11286)agC>agT	p.S3762S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3762	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCGAAACTCGCTCTCTGTGC	0.527																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11284-11286)agC>agT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						142.0	118.0	126.0					2																	170027155		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170027155G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11286C>T	2.37:g.170027155G>A							p.S3762S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	59	11571	-			3762			LDL-receptor class A 32.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.11286C>T	CCDS2232.1																																																																																				0.527	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		141	368	0	0	0	1	0	141	368				
RFTN1	23180	broad.mit.edu	37	3	16450939	16450939	+	Silent	SNP	G	G	A	rs369536397		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450939G>A	ENST00000334133.4	-	4	656	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RFTN1_ENST00000432519.1_Silent_p.C92C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	128					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGAGGAACAGCAATCTAATT	0.423																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(382-384)tgC>tgT		raftlin, lipid raft linker 1		G		0,4406		0,0,2203	164.0	154.0	157.0		384	5.5	1.0	3		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RFTN1	NM_015150.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		128/579	16450939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16450939G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.384C>T	3.37:g.16450939G>A						RFTN1_ENST00000432519.1_Silent_p.C92C	p.C128C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			4	656	-			128					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.384C>T	CCDS33712.1																																																																																				0.423	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		16	415	0	0	0	1	0	16	415				
POU4F1	5457	broad.mit.edu	37	13	79175757	79175757	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79175757G>A	ENST00000377208.5	-	2	1264	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	351					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCGCCGCCGTTGAAGAGCT	0.657																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(1051-1053)aaC>aaT		POU class 4 homeobox 1							29.0	33.0	32.0					13																	79175757		2203	4300	6503	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175757G>A	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1053C>T	13.37:g.79175757G>A						RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA	p.N351N	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1264	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	351					Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.1053C>T	CCDS31996.1																																																																																				0.657	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			50	216	0	0	0	1	0	50	216				
MPP4	58538	broad.mit.edu	37	2	202520927	202520927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202520927G>T	ENST00000409474.3	-	17	1501	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I	MPP4_ENST00000315506.7_Missense_Mutation_p.L388I|MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I|MPP4_ENST00000428900.2_Missense_Mutation_p.L408I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	432	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						ATACCCATGAGCACTATGAGG	0.537																																						ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(1294-1296)Ctc>Atc		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							35.0	38.0	37.0					2																	202520927		2083	4212	6295	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202520927G>T	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1294C>A	2.37:g.202520927G>T	ENSP00000387278:p.Leu432Ile					MPP4_ENST00000315506.7_Missense_Mutation_p.L388I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I|MPP4_ENST00000428900.2_Missense_Mutation_p.L408I	p.L432I	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN			17	1501	-			432			Guanylate kinase-like.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.1294C>A	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315542	0.81469	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.076523	0.53938	D	0.000049	T	0.65165	0.2665	L	0.46947	1.48	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.971;0.999;0.999;0.999;0.999;0.999;1.0	T	0.66060	-0.6017	10	0.87932	D	0	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	374;357;408;401;388;425;432;397	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	I	432;388;357;432;397;361;408;374;425	ENSP00000387278:L432I;ENSP00000319363:L388I;ENSP00000353047:L432I;ENSP00000416781:L408I;ENSP00000387293:L374I;ENSP00000406160:L425I	ENSP00000319363:L388I	L	-	1	0	MPP4	202229172	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.790000	0.75115	2.676000	0.91093	0.655000	0.94253	CTC		0.537	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			6	47	1	0	0.0293803	1	0.0294705	6	47				
PITX3	5309	broad.mit.edu	37	10	103991721	103991721	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103991721G>A	ENST00000370002.3	-	2	270	c.117C>T	c.(115-117)agC>agT	p.S39S	PITX3_ENST00000539804.1_Splice_Site_p.S39S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	39					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCGCTTACCGCTGTGCTCCT	0.716																																						ENST00000370002.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.e2+1		paired-like homeodomain 3							16.0	20.0	18.0					10																	103991721		2193	4285	6478	SO:0001630	splice_region_variant	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103991721G>A		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.118+1C>T	10.37:g.103991721G>A						PITX3_ENST00000539804.1_Splice_Site_p.S39_splice	p.S39_splice	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	2	270	-		Colorectal(252;0.00957)	39					Q5VZL2	Splice_Site	SNP	ENST00000370002.3	37	c.118_splice	CCDS7532.1																																																																																				0.716	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1		Silent	16	187	0	0	0	1	0	16	187				
CMIP	80790	broad.mit.edu	37	16	81685954	81685954	+	Silent	SNP	G	G	A	rs562434205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81685954G>A	ENST00000537098.3	+	4	696	c.624G>A	c.(622-624)tcG>tcA	p.S208S	CMIP_ENST00000539778.2_Silent_p.S114S|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.S55S	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	208						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						AAATCGTCTCGAAACTGCTCT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18101	0.0		0.0	False		,,,				2504	0.001					ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(622-624)tcG>tcA		c-Maf inducing protein							63.0	66.0	65.0					16																	81685954		1913	4111	6024	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81685954G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.624G>A	16.37:g.81685954G>A						CMIP_ENST00000539778.2_Silent_p.S114S|CMIP_ENST00000398040.4_Silent_p.S55S|CMIP_ENST00000566513.1_3'UTR	p.S208S	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			4	696	+			174					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.624G>A	CCDS54044.1																																																																																				0.582	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		103	236	0	0	0	1	0	103	236				
HDAC7	51564	broad.mit.edu	37	12	48185667	48185667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48185667C>T	ENST00000427332.2	-	14	1838	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R600Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000488927.1_5'UTR			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	561	Histone deacetylase.			R -> L (in Ref. 5; BAA91545). {ECO:0000305}.	cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		ACACTGGCTCCGGAGCCCCCG	0.706																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1798-1800)cGg>cAg		histone deacetylase 7							10.0	12.0	11.0					12																	48185667		2188	4274	6462	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48185667C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1682G>A	12.37:g.48185667C>T	ENSP00000404394:p.Arg561Gln					HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000427332.2_Missense_Mutation_p.R561Q	p.R600Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	14	1798	-			561			Histone deacetylase.		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1799G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.679823|4.679823	0.88542|0.88542	.|.	.|.	ENSG00000061273|ENSG00000061273	ENST00000548080|ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	.|T;T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44;-0.44	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|0.057425	.|0.64402	.|D	.|0.000002	T|T	0.58878|0.58878	0.2153|0.2153	L|L	0.35793|0.35793	1.09|1.09	0.45791|0.45791	D|D	0.998671|0.998671	.|B;P;D	.|0.62365	.|0.443;0.688;0.991	.|B;B;B	.|0.43867	.|0.081;0.014;0.434	T|T	0.62110|0.62110	-0.6923|-0.6923	5|10	.|0.48119	.|T	.|0.1	.|.	14.2362|14.2362	0.65929|0.65929	0.1505:0.8495:0.0:0.0|0.1505:0.8495:0.0:0.0	.|.	.|600;583;563	.|Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.|.;.;.	R|Q	41|600;563;583;617;561	.|ENSP00000080059:R600Q;ENSP00000351326:R563Q;ENSP00000448532:R583Q;ENSP00000369984:R617Q;ENSP00000404394:R561Q	.|ENSP00000080059:R600Q	G|R	-|-	1|2	0|0	HDAC7|HDAC7	46471934|46471934	0.896000|0.896000	0.30565|0.30565	0.921000|0.921000	0.36526|0.36526	0.984000|0.984000	0.73092|0.73092	2.420000|2.420000	0.44679|0.44679	1.315000|1.315000	0.45114|0.45114	0.558000|0.558000	0.71614|0.71614	GGA|CGG		0.706	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			33	140	0	0	0	1	0	33	140				
XYLT2	64132	broad.mit.edu	37	17	48437340	48437340	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48437340C>T	ENST00000017003.2	+	11	2335	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	762					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGATGCCAGCTGGCTGCACG	0.632																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(2284-2286)agC>agT		xylosyltransferase II							39.0	27.0	31.0					17																	48437340		2201	4298	6499	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437340C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2286C>T	17.37:g.48437340C>T						XYLT2_ENST00000507602.1_Intron	p.S762S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			11	2335	+	Breast(11;7.18e-19)		762					Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.2286C>T	CCDS11563.1																																																																																				0.632	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		15	68	0	0	0	1	0	15	68				
ARID4A	5926	broad.mit.edu	37	14	58838690	58838690	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58838690G>A	ENST00000355431.3	+	24	4130	c.3757G>A	c.(3757-3759)Gct>Act	p.A1253T	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1253					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAATGTACTTGCTGTAGAATG	0.458																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3757-3759)Gct>Act		AT rich interactive domain 4A (RBP1-like)							154.0	121.0	132.0					14																	58838690		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58838690G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3757G>A	14.37:g.58838690G>A	ENSP00000347602:p.Ala1253Thr					ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|RP11-517O13.3_ENST00000556390.1_RNA	p.A1253T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			24	4130	+			1253					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3757G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041641	0.75732	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.15834	2.39;2.46;2.46;2.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.19112	0.55	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.989;0.998	T	0.10154	-1.0642	10	0.72032	D	0.01	-19.7907	19.087	0.93206	0.0:0.0:1.0:0.0	.	1184;1253;1199	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	1253;1184;1199;1184	ENSP00000347602:A1253T;ENSP00000344556:A1184T;ENSP00000378597:A1199T;ENSP00000397368:A1184T	ENSP00000344556:A1184T	A	+	1	0	ARID4A	57908443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.716000	0.91420	2.737000	0.93849	0.563000	0.77884	GCT		0.458	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		26	98	0	0	0	1	0	26	98				
NLGN4X	57502	broad.mit.edu	37	X	5950748	5950748	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:5950748G>A	ENST00000381095.3	-	3	1100				NLGN4X_ENST00000381093.2_Silent_p.D172D|NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000275857.6_Intron|NLGN4X_ENST00000381092.1_Intron	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked						adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTTCACCACGGTCATTACTCG	0.343																																						ENST00000381093.2																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(514-516)gaC>gaT		neuroligin 4, X-linked							36.0	36.0	36.0					X																	5950748		876	1990	2866	SO:0001627	intron_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5950748G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.473-3275C>T	X.37:g.5950748G>A						NLGN4X_ENST00000275857.6_Intron|NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000381092.1_Intron|NLGN4X_ENST00000381095.3_Intron	p.D172D			Q8N0W4	NLGNX_HUMAN			3	979	-			157					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.516C>T	CCDS14126.1																																																																																				0.343	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		23	79	0	0	0	1	0	23	79				
MYT1	4661	broad.mit.edu	37	20	62839313	62839313	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839313T>C	ENST00000328439.1	+	7	1128	c.764T>C	c.(763-765)cTg>cCg	p.L255P	MYT1_ENST00000536311.1_Missense_Mutation_p.L255P|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAGGCATCCTGAGTCACgaa	0.597																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(763-765)cTg>cCg		myelin transcription factor 1							27.0	27.0	27.0					20																	62839313		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839313T>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.764T>C	20.37:g.62839313T>C	ENSP00000327465:p.Leu255Pro					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.L255P	p.L255P			Q01538	MYT1_HUMAN			7	1128	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		255			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.764T>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	9.258	1.042377	0.19748	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.72615	-0.67;-0.67	4.05	-0.0937	0.13648	.	0.882556	0.09404	N	0.806797	T	0.54431	0.1858	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.37606	T	0.19	-0.0125	0.3961	0.00418	0.2218:0.1385:0.2294:0.4103	.	255	Q01538	MYT1_HUMAN	P	255	ENSP00000327465:L255P;ENSP00000442412:L255P	ENSP00000327465:L255P	L	+	2	0	MYT1	62309757	0.015000	0.18098	0.004000	0.12327	0.952000	0.60782	0.501000	0.22578	0.427000	0.26145	0.451000	0.29950	CTG		0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		15	91	0	0	0	1	0	15	91				
TCF20	6942	broad.mit.edu	37	22	42609754	42609754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609754C>A	ENST00000359486.3	-	1	1694	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCCTCCATCTAATGACTCT	0.537																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1558-1560)Gat>Tat		transcription factor 20 (AR1)							155.0	164.0	161.0					22																	42609754		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609754C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1558G>T	22.37:g.42609754C>A	ENSP00000352463:p.Asp520Tyr					TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	p.D520Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1694	-			520					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1558G>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573944	0.45902	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35236	1.32;1.32	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.50825	-0.8782	10	0.87932	D	0	-22.0814	20.8794	0.99867	0.0:1.0:0.0:0.0	.	520;520	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	520	ENSP00000352463:D520Y;ENSP00000335561:D520Y	ENSP00000335561:D520Y	D	-	1	0	TCF20	40939698	1.000000	0.71417	0.957000	0.39632	0.560000	0.35617	2.209000	0.42806	2.941000	0.99782	0.655000	0.94253	GAT		0.537	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		260	1071	1	0	2.60651e-80	1	3.33335e-80	260	1071				
UTRN	7402	broad.mit.edu	37	6	144758737	144758737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758737G>A	ENST00000367545.3	+	10	1096	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	366	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGAGCAGTGTGGGCAGCGT	0.443																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1096-1098)Gtg>Atg		utrophin							81.0	77.0	78.0					6																	144758737		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144758737G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1096G>A	6.37:g.144758737G>A	ENSP00000356515:p.Val366Met						p.V366M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	10	1096	+		Ovarian(120;0.218)	366			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1096G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912214	0.92178	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.58210	0.35	5.45	5.45	0.79879	.	0.000000	0.44902	D	0.000415	T	0.74007	0.3660	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78239	-0.2281	10	0.66056	D	0.02	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	366	P46939	UTRO_HUMAN	M	366	ENSP00000356515:V366M	ENSP00000356499:V366M	V	+	1	0	UTRN	144800430	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GTG		0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			39	277	0	0	0	1	0	39	277				
LRP1	4035	broad.mit.edu	37	12	57587393	57587393	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587393C>T	ENST00000243077.3	+	47	8195	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2577	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCAATGGGCGCTGTGTGTC	0.607																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7729-7731)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						84.0	74.0	78.0					12																	57587393		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587393C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7729C>T	12.37:g.57587393C>T	ENSP00000243077:p.Arg2577Cys						p.R2577C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	47	8195	+			2577			LDL-receptor class A 12.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7729C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873444	0.72180	.	.	ENSG00000123384	ENST00000243077	D	0.96136	-3.92	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	D	0.97567	0.9203	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98096	1.0412	10	0.72032	D	0.01	.	17.2551	0.87053	0.0:1.0:0.0:0.0	.	2577	Q07954	LRP1_HUMAN	C	2577	ENSP00000243077:R2577C	ENSP00000243077:R2577C	R	+	1	0	LRP1	55873660	0.990000	0.36364	0.993000	0.49108	0.571000	0.35966	3.867000	0.56047	2.606000	0.88127	0.655000	0.94253	CGC		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		35	163	0	0	0	1	0	35	163				
GPC3	2719	broad.mit.edu	37	X	132887781	132887781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132887781G>A	ENST00000370818.3	-	3	1205	c.760C>T	c.(760-762)Cga>Tga	p.R254*	GPC3_ENST00000543339.1_Nonsense_Mutation_p.R200*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.R254*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	254					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.R254*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTGAGCATTCGGCCACAGTCC	0.483			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			1	Substitution - Nonsense(1)	p.R254*(1)	breast(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	GRCh37	CM073109	GPC3	M		c.(760-762)Cga>Tga		glypican 3							614.0	391.0	467.0					X																	132887781		2203	4300	6503	SO:0001587	stop_gained	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887781G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.760C>T	X.37:g.132887781G>A	ENSP00000359854:p.Arg254*					GPC3_ENST00000543339.1_Nonsense_Mutation_p.R200*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.R254*	p.R254*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	1205	-	Acute lymphoblastic leukemia(192;0.000127)		254					C9JLE3|G3V1R0|Q2L880|Q2L882	Nonsense_Mutation	SNP	ENST00000370818.3	37	c.760C>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	40	8.416277	0.98801	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9614	0.58460	0.0:0.0:0.8388:0.1612	.	.	.	.	X	254;254;200	.	ENSP00000359854:R254X	R	-	1	2	GPC3	132715447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.092000	0.71414	2.455000	0.83008	0.594000	0.82650	CGA		0.483	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		11	623	0	0	0	1	0	11	623				
SEMA3D	223117	broad.mit.edu	37	7	84651735	84651735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651735G>A	ENST00000284136.6	-	11	1429	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	462	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATCGTACTGGCCATCTTCTG	0.383																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1384-1386)ggC>ggT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							245.0	218.0	227.0					7																	84651735		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651735G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1386C>T	7.37:g.84651735G>A						SEMA3D_ENST00000484038.1_5'UTR	p.G462G	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			11	1429	-			462			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.1386C>T	CCDS34676.1																																																																																				0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		201	776	0	0	0	1	0	201	776				
HECW2	57520	broad.mit.edu	37	2	197297957	197297957	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197297957C>T	ENST00000260983.3	-	2	373	c.191G>A	c.(190-192)aGc>aAc	p.S64N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	64					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCGTACATGCTGGCAGTTAA	0.547																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(190-192)aGc>aAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							82.0	74.0	77.0					2																	197297957		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197297957C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.191G>A	2.37:g.197297957C>T	ENSP00000260983:p.Ser64Asn						p.S64N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	373	-			64					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.191G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915329	0.92178	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.40756	1.02;1.02;1.02	5.27	5.27	0.74061	.	0.105732	0.64402	D	0.000003	T	0.65606	0.2707	M	0.76328	2.33	0.48288	D	0.999629	P	0.49090	0.919	D	0.64321	0.924	T	0.67875	-0.5557	10	0.87932	D	0	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	64	Q9P2P5	HECW2_HUMAN	N	64	ENSP00000260983:S64N;ENSP00000409918:S64N;ENSP00000395770:S64N	ENSP00000260983:S64N	S	-	2	0	HECW2	197006202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.216000	0.72212	2.736000	0.93811	0.561000	0.74099	AGC		0.547	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		127	326	0	0	0	1	0	127	326				
GPR128	84873	broad.mit.edu	37	3	100378676	100378676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100378676G>A	ENST00000273352.3	+	14	2236	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Silent_p.Q361Q	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	656					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGAATAACCAGAACCTGACAA	0.438																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1966-1968)caG>caA		G protein-coupled receptor 128							134.0	125.0	128.0					3																	100378676		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100378676G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1968G>A	3.37:g.100378676G>A						GPR128_ENST00000475887.1_Silent_p.Q361Q|GPR128_ENST00000481506.1_3'UTR	p.Q656Q	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			14	2236	+			656					Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1968G>A	CCDS2938.1																																																																																				0.438	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			48	258	0	0	0	1	0	48	258				
AMER1	139285	broad.mit.edu	37	X	63413144	63413144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63413144G>A	ENST00000330258.3	-	2	295	c.23C>T	c.(22-24)gCt>gTt	p.A8V	AMER1_ENST00000403336.1_Missense_Mutation_p.A8V|AMER1_ENST00000374869.3_Missense_Mutation_p.A8V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	8					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGCCTGAGCAGCTTCATCCTT	0.532																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(22-24)gCt>gTt		APC membrane recruitment protein 1							143.0	117.0	125.0					X																	63413144		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63413144G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.23C>T	X.37:g.63413144G>A	ENSP00000329117:p.Ala8Val					AMER1_ENST00000403336.1_Missense_Mutation_p.A8V|AMER1_ENST00000374869.3_Missense_Mutation_p.A8V	p.A8V	NM_152424.3	NP_689637.3					2	295	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.23C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842625	0.16963	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.46063	0.88;0.88;0.88	4.59	1.91	0.25777	.	0.754197	0.12235	N	0.487096	T	0.29423	0.0733	L	0.27053	0.805	0.27440	N	0.953734	B	0.14805	0.011	B	0.15052	0.012	T	0.23190	-1.0195	10	0.56958	D	0.05	0.0174	8.8232	0.35039	0.2652:0.0:0.7348:0.0	.	8	Q5JTC6	F123B_HUMAN	V	8	ENSP00000364003:A8V;ENSP00000329117:A8V;ENSP00000384722:A8V	ENSP00000329117:A8V	A	-	2	0	FAM123B	63329869	0.555000	0.26530	0.858000	0.33744	0.061000	0.15899	3.114000	0.50383	0.283000	0.22279	-0.191000	0.12829	GCT		0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		21	442	0	0	0	1	0	21	442				
ACADL	33	broad.mit.edu	37	2	211074960	211074960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211074960G>A	ENST00000233710.3	-	5	790	c.563C>T	c.(562-564)gCt>gTt	p.A188V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	188					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATCCTTTTTAGCATTTGTTTT	0.303																																						ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(562-564)gCt>gTt		acyl-CoA dehydrogenase, long chain							173.0	170.0	171.0					2																	211074960		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211074960G>A	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.563C>T	2.37:g.211074960G>A	ENSP00000233710:p.Ala188Val					AC006994.2_ENST00000412065.1_RNA	p.A188V	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	5	790	-		Renal(323;0.202)	188					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.563C>T	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064141	0.93898	.	.	ENSG00000115361	ENST00000233710	D	0.99814	-6.89	5.33	5.33	0.75918	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97008	0.9734	10	0.87932	D	0	.	19.0113	0.92874	0.0:0.0:1.0:0.0	.	188	P28330	ACADL_HUMAN	V	188	ENSP00000233710:A188V	ENSP00000233710:A188V	A	-	2	0	ACADL	210783205	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.176000	0.94839	2.497000	0.84241	0.563000	0.77884	GCT		0.303	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		183	577	0	0	0	1	0	183	577				
LIMD1	8994	broad.mit.edu	37	3	45637385	45637385	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45637385G>T	ENST00000273317.4	+	1	1035	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	LIMD1_ENST00000440097.1_Missense_Mutation_p.Q338H|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	338					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGTTCCAGGATGGGCCCA	0.617																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1012-1014)caG>caT		LIM domains containing 1							84.0	86.0	85.0					3																	45637385		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637385G>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1014G>T	3.37:g.45637385G>T	ENSP00000273317:p.Gln338His					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.Q338H	p.Q338H	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	1035	+			338					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1014G>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.933986	0.18206	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58940	0.3;0.5	4.73	-1.52	0.08637	.	1.897850	0.02198	N	0.062043	T	0.39200	0.1069	N	0.19112	0.55	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	10	0.38643	T	0.18	.	2.7735	0.05341	0.2436:0.114:0.5113:0.1311	.	338	Q9UGP4	LIMD1_HUMAN	H	338	ENSP00000394537:Q338H;ENSP00000273317:Q338H	ENSP00000273317:Q338H	Q	+	3	2	LIMD1	45612389	0.008000	0.16893	0.753000	0.31225	0.579000	0.36224	-0.313000	0.08103	-0.172000	0.10779	-0.150000	0.13652	CAG		0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		80	398	1	0	3.27973e-32	1	3.87147e-32	80	398				
NTRK2	4915	broad.mit.edu	37	9	87285823	87285823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87285823G>A	ENST00000323115.4	+	1	513	c.160G>A	c.(160-162)Gca>Aca	p.A54T	NTRK2_ENST00000304053.6_Missense_Mutation_p.A54T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	54	LRRNT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGGCATCGTGGCATTTCCGAG	0.567										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(160-162)Gca>Aca		neurotrophic tyrosine kinase, receptor, type 2							109.0	91.0	97.0					9																	87285823		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87285823G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.160G>A	9.37:g.87285823G>A	ENSP00000314586:p.Ala54Thr	TSP Lung(25;0.17)				NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T	p.A54T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			2	643	+			54			LRRNT.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.160G>A	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271193	0.40194	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847	D;D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	5.01	4.12	0.48240	Leucine-rich repeat-containing N-terminal (2);	0.197986	0.42548	D	0.000681	D	0.95856	0.8651	L	0.55481	1.735	0.80722	D	1	P;P;P;P;P;P;P	0.51933	0.937;0.937;0.949;0.923;0.843;0.907;0.937	P;P;P;P;P;P;P	0.61070	0.814;0.814;0.883;0.755;0.487;0.566;0.814	D	0.93206	0.6596	10	0.12766	T	0.61	.	8.3645	0.32378	0.0817:0.0:0.7287:0.1895	.	54;54;54;54;54;100;54	Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;NTRK2_HUMAN;.;.;.	T	54	ENSP00000365387:A54T;ENSP00000365386:A54T;ENSP00000379221:A54T;ENSP00000365381:A54T;ENSP00000306167:A54T;ENSP00000277120:A54T;ENSP00000314586:A54T;ENSP00000352906:A54T	ENSP00000277120:A54T	A	+	1	0	NTRK2	86475643	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.171000	0.50824	1.341000	0.45600	0.561000	0.74099	GCA		0.567	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			20	336	0	0	0	1	0	20	336				
CCNJL	79616	broad.mit.edu	37	5	159707577	159707577	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159707577A>G	ENST00000393977.3	-	3	520	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P	CCNJL_ENST00000541762.1_Missense_Mutation_p.S78P|CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	79	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGCTTGGAGGTGGTGACG	0.627																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(235-237)Tcc>Ccc		cyclin J-like							93.0	95.0	94.0					5																	159707577		2168	4245	6413	SO:0001583	missense	79616					nucleus		g.chr5:159707577A>G	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.235T>C	5.37:g.159707577A>G	ENSP00000377547:p.Ser79Pro					CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P|CCNJL_ENST00000541762.1_Missense_Mutation_p.S78P|CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P|CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P	p.S79P	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	520	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	79			Cyclin N-terminal.		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.235T>C	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459198	0.63401	.	.	ENSG00000135083	ENST00000393977;ENST00000257536;ENST00000519673;ENST00000541762;ENST00000520748;ENST00000505287	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.04	2.54	0.30619	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.42548	D	0.000699	T	0.28134	0.0694	L	0.55481	1.735	0.26272	N	0.978407	P;P;D	0.65815	0.899;0.943;0.995	P;P;P	0.60415	0.664;0.664;0.874	T	0.15896	-1.0421	10	0.66056	D	0.02	-19.0172	0.9414	0.01356	0.4356:0.2439:0.1795:0.141	.	79;79;79	E7EN43;B4DZA8;Q8IV13	.;.;CCNJL_HUMAN	P	79;79;79;78;114;124	ENSP00000377547:S79P;ENSP00000257536:S79P;ENSP00000427960:S79P;ENSP00000446367:S78P;ENSP00000428836:S114P;ENSP00000444778:S124P	ENSP00000257536:S79P	S	-	1	0	CCNJL	159640155	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.353000	0.34045	0.891000	0.36235	0.454000	0.30748	TCC		0.627	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		21	553	0	0	0	1	0	21	553				
DSP	1832	broad.mit.edu	37	6	7565651	7565651	+	Silent	SNP	G	G	A	rs368051840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7565651G>A	ENST00000379802.3	+	7	1178	c.837G>A	c.(835-837)acG>acA	p.T279T	DSP_ENST00000418664.2_Silent_p.T279T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	279	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCAGGCCACGTCCAGGGAGA	0.507																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(835-837)acG>acA		desmoplakin							146.0	115.0	126.0					6																	7565651		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7565651G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.837G>A	6.37:g.7565651G>A						DSP_ENST00000418664.2_Silent_p.T279T	p.T279T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	7	1178	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	279			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.837G>A	CCDS4501.1																																																																																				0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		34	357	0	0	0	1	0	34	357				
MOV10L1	54456	broad.mit.edu	37	22	50564678	50564678	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50564678G>A	ENST00000262794.5	+	12	1878	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	599					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E599K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACATGCCATCGAATACATCAG	0.383																																						ENST00000262794.5																			1	Substitution - Missense(1)	p.E599K(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1795-1797)Gaa>Aaa		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							123.0	102.0	109.0					22																	50564678		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50564678G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1795G>A	22.37:g.50564678G>A	ENSP00000262794:p.Glu599Lys					MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K	p.E599K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	12	1878	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	599					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.1795G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690276	0.68271	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85629	-1.82;-1.82;-1.41;-2.01	5.46	5.46	0.80206	.	0.098399	0.64402	D	0.000002	D	0.87083	0.6089	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.98;0.98	P;P;B;B	0.56788	0.806;0.64;0.436;0.436	D	0.83584	0.0119	10	0.17369	T	0.5	-39.1041	12.5473	0.56208	0.0:0.1675:0.8325:0.0	.	360;579;599;599	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	599;599;599;579	ENSP00000438978:E599K;ENSP00000262794:E599K;ENSP00000379199:E599K;ENSP00000438542:E579K	ENSP00000262794:E599K	E	+	1	0	MOV10L1	48906805	1.000000	0.71417	0.890000	0.34922	0.929000	0.56500	4.187000	0.58344	2.542000	0.85734	0.655000	0.94253	GAA		0.383	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		47	225	0	0	0	1	0	47	225				
OTOP1	133060	broad.mit.edu	37	4	4228393	4228393	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4228393G>A	ENST00000296358.4	-	1	223	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	67					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACACGATCAGCCCATACTGG	0.716																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(199-201)Ctg>Ttg		otopetrin 1							9.0	10.0	9.0					4																	4228393		2065	4067	6132	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228393G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.199C>T	4.37:g.4228393G>A							p.L67L	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	223	-			67					A1L476	Silent	SNP	ENST00000296358.4	37	c.199C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		4	57	0	0	0	1	0	4	57				
IGF2BP1	10642	broad.mit.edu	37	17	47115652	47115652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115652G>A	ENST00000290341.3	+	6	858	c.524G>A	c.(523-525)gGt>gAt	p.G175D	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	175					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCTCGGGGTCAGCCCCGC	0.652																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(523-525)gGt>gAt		insulin-like growth factor 2 mRNA binding protein 1							30.0	36.0	34.0					17																	47115652		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115652G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.524G>A	17.37:g.47115652G>A	ENSP00000290341:p.Gly175Asp					IGF2BP1_ENST00000431824.2_Intron	p.G175D	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			6	858	+			175					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.524G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785170	0.90282	.	.	ENSG00000159217	ENST00000290341	T	0.21361	2.01	5.55	5.55	0.83447	.	0.061482	0.64402	D	0.000005	T	0.32406	0.0828	M	0.66939	2.045	0.80722	D	1	P	0.48640	0.913	P	0.48030	0.564	T	0.04333	-1.0959	10	0.15952	T	0.53	-6.896	19.0998	0.93269	0.0:0.0:1.0:0.0	.	175	Q9NZI8	IF2B1_HUMAN	D	175	ENSP00000290341:G175D	ENSP00000290341:G175D	G	+	2	0	IGF2BP1	44470651	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.565000	0.73974	2.585000	0.87301	0.655000	0.94253	GGT		0.652	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		72	290	0	0	0	1	0	72	290				
PDE3B	5140	broad.mit.edu	37	11	14880590	14880590	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14880590C>T	ENST00000282096.4	+	13	2875	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V	PDE3B_ENST00000455098.2_Splice_Site_p.A790V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	841	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCTTTTTAGGCAGTTTTATAC	0.333																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e13-1		phosphodiesterase 3B, cGMP-inhibited							91.0	89.0	90.0					11																	14880590		2200	4294	6494	SO:0001630	splice_region_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14880590C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2521-1C>T	11.37:g.14880590C>T						PDE3B_ENST00000455098.2_Splice_Site_p.A790_splice	p.A841_splice	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			13	2875	+			841			Catalytic (By similarity).		B7ZM37|O00639|Q14408|Q6SEI4	Splice_Site	SNP	ENST00000282096.4	37	c.2520_splice	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258912	0.95368	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.84944	-1.92;-1.92	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96590	0.9437	10	0.87932	D	0	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	790;841	B7ZM37;Q13370	.;PDE3B_HUMAN	V	841;790	ENSP00000282096:A841V;ENSP00000388644:A790V	ENSP00000282096:A841V	A	+	2	0	PDE3B	14837166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.666000	0.90696	0.655000	0.94253	GCA		0.333	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	Missense_Mutation	67	322	0	0	0	1	0	67	322				
RBM28	55131	broad.mit.edu	37	7	127954833	127954833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127954833G>A	ENST00000223073.2	-	17	2143	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	677					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGGGGCCTCGGTGTGAGGGG	0.542																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(2029-2031)Cga>Tga		RNA binding motif protein 28							157.0	164.0	162.0					7																	127954833		2203	4300	6503	SO:0001587	stop_gained	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127954833G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2029C>T	7.37:g.127954833G>A	ENSP00000223073:p.Arg677*					RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*	p.R677*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			17	2143	-			677					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Nonsense_Mutation	SNP	ENST00000223073.2	37	c.2029C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	41	8.805438	0.98960	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	6.17	6.17	0.99709	.	0.140158	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-8.5118	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	.	.	.	X	677;536	.	ENSP00000223073:R677X	R	-	1	2	RBM28	127742069	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.949000	0.56668	2.941000	0.99782	0.655000	0.94253	CGA		0.542	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		158	936	0	0	0	1	0	158	936				
TMPRSS15	5651	broad.mit.edu	37	21	19755999	19755999	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19755999A>G	ENST00000284885.3	-	4	474	c.441T>C	c.(439-441)aaT>aaC	p.N147N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	147	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGCTGGATTTATTTGCTTCAA	0.368																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(439-441)aaT>aaC		transmembrane protease, serine 15							132.0	116.0	122.0					21																	19755999		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19755999A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.441T>C	21.37:g.19755999A>G							p.N147N	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			4	474	-			147			SEA.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.441T>C	CCDS13571.1																																																																																				0.368	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		14	222	0	0	0	1	0	14	222				
BPTF	2186	broad.mit.edu	37	17	65905755	65905755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65905755G>A	ENST00000321892.4	+	12	3309	c.3248G>A	c.(3247-3249)aGt>aAt	p.S1083N	BPTF_ENST00000306378.6_Missense_Mutation_p.S957N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1083					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCACGAAGTCCAAAAAAA	0.318																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(3247-3249)aGt>aAt		bromodomain PHD finger transcription factor							40.0	43.0	42.0					17																	65905755		2201	4299	6500	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65905755G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3248G>A	17.37:g.65905755G>A	ENSP00000315454:p.Ser1083Asn					BPTF_ENST00000306378.6_Missense_Mutation_p.S957N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N	p.S1083N			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	3309	+	all_cancers(12;6e-11)		1083					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.3248G>A		.	.	.	.	.	.	.	.	.	.	G	12.82	2.053760	0.36277	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63255	-0.02;-0.03;-0.02	5.55	5.55	0.83447	.	.	.	.	.	T	0.63651	0.2529	L	0.29908	0.895	0.32590	N	0.527265	P;D	0.56035	0.955;0.974	P;P	0.56216	0.718;0.794	T	0.65635	-0.6120	9	0.31617	T	0.26	-13.4805	14.8729	0.70471	0.0:0.0:1.0:0.0	.	957;1083	Q12830-2;Q12830-4	.;.	N	957;1083;1083	ENSP00000307208:S957N;ENSP00000334351:S1083N;ENSP00000315454:S1083N	ENSP00000307208:S957N	S	+	2	0	BPTF	63336217	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.235000	0.58666	2.885000	0.99019	0.655000	0.94253	AGT		0.318	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		26	116	0	0	0	1	0	26	116				
SLITRK3	22865	broad.mit.edu	37	3	164906811	164906811	+	Missense_Mutation	SNP	C	C	T	rs201622569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906811C>T	ENST00000475390.1	-	2	2251	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	603	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCAATAGTGCGCACATCACG	0.547										HNSCC(40;0.11)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.0					ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1807-1809)cGc>cAc		SLIT and NTRK-like family, member 3							69.0	64.0	66.0					3																	164906811		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906811C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1808G>A	3.37:g.164906811C>T	ENSP00000420091:p.Arg603His	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H	p.R603H			O94933	SLIK3_HUMAN			2	2251	-			603			LRRCT 2.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1808G>A	CCDS3197.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.60	2.584322	0.46110	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53206	0.63;0.63	5.7	5.7	0.88788	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38436	N	0.001697	T	0.70692	0.3253	M	0.90019	3.08	0.48571	D	0.999676	D	0.76494	0.999	P	0.61722	0.893	T	0.76438	-0.2959	10	0.87932	D	0	-16.8764	13.0864	0.59142	0.0:0.9257:0.0:0.0743	.	603	O94933	SLIK3_HUMAN	H	603	ENSP00000420091:R603H;ENSP00000241274:R603H	ENSP00000241274:R603H	R	-	2	0	SLITRK3	166389505	0.999000	0.42202	0.998000	0.56505	0.383000	0.30230	3.207000	0.51106	2.836000	0.97738	0.655000	0.94253	CGC		0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		47	196	0	0	0	1	0	47	196				
MGA	23269	broad.mit.edu	37	15	42058209	42058209	+	Silent	SNP	C	C	T	rs370684330		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42058209C>T	ENST00000570161.1	+	23	7929	c.7929C>T	c.(7927-7929)gaC>gaT	p.D2643D	MGA_ENST00000566586.1_Silent_p.D2434D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000219905.7_Silent_p.D2643D			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGAAAATGACGACTTATTTA	0.353																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7927-7929)gaC>gaT		MGA, MAX dimerization protein		C	,	0,3640		0,0,1820	69.0	65.0	66.0		7302,7929	-1.0	1.0	15		66	1,8165		0,1,4082	no	coding-synonymous,coding-synonymous	MGA	NM_001080541.2,NM_001164273.1	,	0,1,5902	TT,TC,CC		0.0122,0.0,0.0085	,	2434/2857,2643/3066	42058209	1,11805	1820	4083	5903	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058209C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7929C>T	15.37:g.42058209C>T						MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000570161.1_Silent_p.D2643D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000566586.1_Silent_p.D2434D	p.D2643D	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	8110	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2604					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.7929C>T	CCDS55959.1																																																																																				0.353	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		17	321	0	0	0	1	0	17	321				
PCDHA9	9752	broad.mit.edu	37	5	140229528	140229528	+	Missense_Mutation	SNP	A	A	G	rs370317629		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229528A>G	ENST00000532602.1	+	1	2481	c.1448A>G	c.(1447-1449)gAc>gGc	p.D483G	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D483G|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACGCTGACGCGCAGGAG	0.662																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1447-1449)gAc>gGc				A	GLY/ASP,,,,,,,,,,,GLY/ASP	0,4390		0,0,2195	55.0	62.0	60.0		1448,,,,,,,,,,,1448	3.6	1.0	5		60	1,8529	1.2+/-3.3	0,1,4264	no	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_014005.3,NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1	94,,,,,,,,,,,94	0,1,6459	GG,GA,AA		0.0117,0.0,0.0077	,,,,,,,,,,,	483/843,,,,,,,,,,,483/951	140229528	1,12919	2195	4265	6460	SO:0001583	missense	0							g.chr5:140229528A>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1448A>G	5.37:g.140229528A>G	ENSP00000436042:p.Asp483Gly					PCDHA9_ENST00000532602.1_Missense_Mutation_p.D483G|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.D483G	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2172	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1448A>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971122	0.53614	0.0	1.17E-4	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.74632	-0.86;-0.86	3.56	3.56	0.40772	Cadherin (4);Cadherin-like (1);	0.000000	0.32753	U	0.005685	D	0.91092	0.7196	H	0.98721	4.31	0.43179	D	0.994999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93890	0.7179	10	0.87932	D	0	.	12.6265	0.56632	1.0:0.0:0.0:0.0	.	483;483	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	G	483	ENSP00000436042:D483G;ENSP00000367362:D483G	ENSP00000367362:D483G	D	+	2	0	PCDHA9	140209712	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.623000	0.74238	1.606000	0.50161	0.254000	0.18369	GAC		0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		157	647	0	0	0	1	0	157	647				
NDST1	3340	broad.mit.edu	37	5	149927843	149927843	+	Missense_Mutation	SNP	G	G	A	rs371359917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149927843G>A	ENST00000261797.6	+	12	2711	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	737	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTACCGCCGGCTCTGACGC	0.622																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2209-2211)Ggc>Agc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1		G	SER/GLY	0,4406		0,0,2203	90.0	62.0	71.0		2209	4.0	0.0	5		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDST1	NM_001543.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	737/883	149927843	1,13005	2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149927843G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2209G>A	5.37:g.149927843G>A	ENSP00000261797:p.Gly737Ser					NDST1_ENST00000523767.1_Intron	p.G737S	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	2711	+		all_hematologic(541;0.224)	737			Heparan sulfate N-sulfotransferase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.2209G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500001	0.12762	0.0	1.16E-4	ENSG00000070614	ENST00000261797	T	0.56103	0.48	4.91	4.04	0.47022	Sulfotransferase domain (1);	0.308220	0.39615	N	0.001304	T	0.29389	0.0732	N	0.16016	0.355	0.58432	D	0.999998	B	0.27264	0.173	B	0.18561	0.022	T	0.16778	-1.0391	10	0.02654	T	1	.	13.2775	0.60196	0.0763:0.0:0.9237:0.0	.	737	P52848	NDST1_HUMAN	S	737	ENSP00000261797:G737S	ENSP00000261797:G737S	G	+	1	0	NDST1	149908036	1.000000	0.71417	0.018000	0.16275	0.041000	0.13682	4.852000	0.62904	1.203000	0.43233	0.655000	0.94253	GGC		0.622	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		51	254	0	0	0	1	0	51	254				
IFIH1	64135	broad.mit.edu	37	2	163130398	163130398	+	Silent	SNP	G	G	A	rs35677292	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163130398G>A	ENST00000263642.2	-	12	2756	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	787	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGTGGTAGCGATAAGCAGAT	0.338													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17234	0.0		0.001	False		,,,				2504	0.0					ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(2359-2361)atC>atT		interferon induced with helicase C domain 1		G		1,4405	2.1+/-5.4	0,1,2202	140.0	130.0	133.0		2361	1.3	1.0	2	dbSNP_126	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IFIH1	NM_022168.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		787/1026	163130398	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163130398G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2361C>T	2.37:g.163130398G>A							p.I787I	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			12	2756	-			787			Helicase C-terminal.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	c.2361C>T	CCDS2217.1																																																																																				0.338	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		74	391	0	0	0	1	0	74	391				
NUDT16	131870	broad.mit.edu	37	3	131102014	131102014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131102014C>T	ENST00000521288.1	+	3	448	c.417C>T	c.(415-417)ggC>ggT	p.G139G	NUDT16_ENST00000502852.1_3'UTR|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Silent_p.G93G|NUDT16_ENST00000359850.3_Silent_p.G106G			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	139	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						AGGTGCTGGGCCTGGTGCGAG	0.572																																						ENST00000359850.3																			0				large_intestine(1)|lung(6)	7						c.(316-318)ggC>ggT		nudix (nucleoside diphosphate linked moiety X)-type motif 16							92.0	90.0	90.0					3																	131102014		2203	4300	6503	SO:0001819	synonymous_variant	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131102014C>T	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.417C>T	3.37:g.131102014C>T						NUDT16_ENST00000521288.1_Silent_p.G139G|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000537561.1_Silent_p.G93G	p.G106G	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN			3	457	+			139			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Silent	SNP	ENST00000521288.1	37	c.318C>T	CCDS3070.2																																																																																				0.572	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		76	356	0	0	0	1	0	76	356				
MCM7	4176	broad.mit.edu	37	7	99691794	99691794	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99691794A>T	ENST00000303887.5	-	13	2494		c.e13+1		MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_Splice_Site|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGGCACTTACCAGAGCAGT	0.587																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.e13+1		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						97.0	94.0	95.0					7																	99691794		2203	4300	6503	SO:0001630	splice_region_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99691794A>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1848+1T>A	7.37:g.99691794A>T						MCM7_ENST00000354230.3_Splice_Site|MCM7_ENST00000343023.6_Intron		NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			13	2494	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Splice_Site	SNP	ENST00000303887.5	37		CCDS5683.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905618	0.33628	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	5.21	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.483	0.38913	0.9138:0.0:0.0862:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM7	99529730	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.466000	0.66731	2.193000	0.70182	0.459000	0.35465	.		0.587	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		Intron	103	533	0	0	0	1	0	103	533				
ZFR2	23217	broad.mit.edu	37	19	3813948	3813948	+	Silent	SNP	G	G	A	rs375016343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3813948G>A	ENST00000262961.4	-	14	2122	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	704	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T704T(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCATCCTCGGTCACCATCT	0.507																																						ENST00000262961.4																			1	Substitution - coding silent(1)	p.T704T(1)	kidney(1)	central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(2110-2112)acC>acT		zinc finger RNA binding protein 2		A		0,4146		0,0,2073	58.0	62.0	61.0		2112	-9.4	0.0	19		61	1,8409		0,1,4204	no	coding-synonymous	ZFR2	NM_015174.1		0,1,6277	AA,AG,GG		0.0119,0.0,0.0080		704/940	3813948	1,12555	2073	4205	6278	SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3813948G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2112C>T	19.37:g.3813948G>A							p.T704T	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	14	2122	-			704						Silent	SNP	ENST00000262961.4	37	c.2112C>T	CCDS45921.1																																																																																				0.507	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		38	150	0	0	0	1	0	38	150				
NOS3	4846	broad.mit.edu	37	7	150698688	150698688	+	Silent	SNP	C	C	A	rs149990866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698688C>A	ENST00000484524.1	+	11	1485	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	NOS3_ENST00000461406.1_Silent_p.T289T|NOS3_ENST00000467517.1_Silent_p.T495T|NOS3_ENST00000297494.3_Silent_p.T495T	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGAAGACCTTTAAAGAAG	0.642																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1483-1485)acC>acA		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						108.0	130.0	122.0					7																	150698688		2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698688C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1485C>A	7.37:g.150698688C>A						NOS3_ENST00000467517.1_Silent_p.T495T|NOS3_ENST00000461406.1_Silent_p.T289T|NOS3_ENST00000484524.1_Silent_p.T495T	p.T495T	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1842	+	all_neural(206;0.219)		495			Calmodulin-binding (Potential).		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1485C>A	CCDS55182.1																																																																																				0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		204	1122	1	0	3.53585e-47	1	4.35019e-47	204	1122				
MIEN1	84299	broad.mit.edu	37	17	37885946	37885946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37885946C>A	ENST00000394231.3	-	3	547	c.256G>T	c.(256-258)Gag>Tag	p.E86*	MIEN1_ENST00000474210.1_5'UTR|MIEN1_ENST00000577810.1_Nonsense_Mutation_p.E86*|ERBB2_ENST00000584888.1_Intron			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	86					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										ACATCTTTCTCATAGGGAAAG	0.473																																						ENST00000394231.3																			0											c.(256-258)Gag>Tag		migration and invasion enhancer 1							188.0	182.0	184.0					17																	37885946		2203	4300	6503	SO:0001587	stop_gained	84299				cell redox homeostasis	cytosol|membrane	selenium binding	g.chr17:37885946C>A	AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.256G>T	17.37:g.37885946C>A	ENSP00000377778:p.Glu86*					MIEN1_ENST00000474210.1_5'UTR|MIEN1_ENST00000577810.1_Nonsense_Mutation_p.E86*|ERBB2_ENST00000584888.1_Intron	p.E86*			Q9BRT3	CQ037_HUMAN			3	547	-			86						Nonsense_Mutation	SNP	ENST00000394231.3	37	c.256G>T	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252296	0.95336	.	.	ENSG00000141741	ENST00000394231	.	.	.	5.8	5.8	0.92144	.	0.061551	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-13.6872	18.8259	0.92119	0.0:1.0:0.0:0.0	.	.	.	.	X	86	.	ENSP00000377778:E86X	E	-	1	0	C17orf37	35139472	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.060000	0.64312	2.746000	0.94184	0.591000	0.81541	GAG		0.473	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3	NM_032339		82	854	1	0	1.21826e-31	1	1.43537e-31	82	854				
SLC25A42	284439	broad.mit.edu	37	19	19221530	19221530	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19221530G>A	ENST00000318596.7	+	8	953	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	268					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CGCCTCCATCGCCCGCACGCT	0.711																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(802-804)Gcc>Acc		solute carrier family 25, member 42							14.0	13.0	13.0					19																	19221530		2181	4260	6441	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19221530G>A		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.802G>A	19.37:g.19221530G>A	ENSP00000326693:p.Ala268Thr						p.A268T	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		8	953	+			268					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.802G>A	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.101014	0.20552	.	.	ENSG00000181035	ENST00000318596	T	0.79352	-1.26	4.92	-5.18	0.02840	Mitochondrial carrier domain (2);	1.297250	0.05156	N	0.496932	T	0.49626	0.1568	N	0.05230	-0.09	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	10	0.16896	T	0.51	-10.0741	3.8853	0.09096	0.3208:0.4395:0.1469:0.0928	.	268	Q86VD7	S2542_HUMAN	T	268	ENSP00000326693:A268T	ENSP00000326693:A268T	A	+	1	0	SLC25A42	19082530	0.002000	0.14202	0.087000	0.20705	0.032000	0.12392	-0.126000	0.10563	-0.099000	0.12263	0.555000	0.69702	GCC		0.711	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		25	79	0	0	0	1	0	25	79				
PSEN1	5663	broad.mit.edu	37	14	73673163	73673163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73673163C>T	ENST00000324501.5	+	9	1210	c.938C>T	c.(937-939)tCc>tTc	p.S313F	PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	313					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAAAAATTCCAAGTATAAT	0.368																																						ENST00000324501.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18						c.(937-939)tCc>tTc		presenilin 1							91.0	86.0	87.0					14																	73673163		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73673163C>T	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.938C>T	14.37:g.73673163C>T	ENSP00000326366:p.Ser313Phe					PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F	p.S313F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	9	1210	+			313					B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.938C>T	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298744	0.23650	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99667	-6.34;-6.34;-6.1;-6.1;-6.34;-6.1;-6.34	5.53	5.53	0.82687	.	0.350494	0.34088	N	0.004280	D	0.99190	0.9719	L	0.60455	1.87	0.27257	N	0.958745	B;P	0.35192	0.122;0.489	B;P	0.50136	0.285;0.632	D	0.97887	1.0295	10	0.24483	T	0.36	-3.8894	13.9605	0.64175	0.1519:0.848:0.0:0.0	.	309;313	P49768-2;P49768	.;PSN1_HUMAN	F	313;309;313;313;309;313;221	ENSP00000326366:S313F;ENSP00000350342:S309F;ENSP00000261970:S313F;ENSP00000339523:S313F;ENSP00000377719:S309F;ENSP00000451429:S313F;ENSP00000385948:S221F	ENSP00000261970:S313F	S	+	2	0	PSEN1	72742916	0.998000	0.40836	0.920000	0.36463	0.149000	0.21700	3.541000	0.53618	2.587000	0.87381	0.650000	0.86243	TCC		0.368	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			56	213	0	0	0	1	0	56	213				
VPS37A	137492	broad.mit.edu	37	8	17125834	17125834	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17125834T>G	ENST00000324849.4	+	3	942	c.268T>G	c.(268-270)Tta>Gta	p.L90V	VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V|VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	90					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ACGACATCACTTAATGGATAA	0.343																																						ENST00000324849.4																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(268-270)Tta>Gta		vacuolar protein sorting 37 homolog A (S. cerevisiae)							122.0	115.0	117.0					8																	17125834		2203	4300	6503	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17125834T>G		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.268T>G	8.37:g.17125834T>G	ENSP00000318629:p.Leu90Val					VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V|VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V	p.L90V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	3	942	+			90					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	c.268T>G	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319355	0.60524	.	.	ENSG00000155975	ENST00000324849;ENST00000324815;ENST00000518038;ENST00000521829	T;T	0.56941	0.43;0.43	4.8	3.64	0.41730	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.63792	0.2541	L	0.60455	1.87	0.46725	D	0.999173	D;D	0.71674	0.998;0.997	D;D	0.78314	0.941;0.991	T	0.61402	-0.7070	10	0.42905	T	0.14	-11.377	8.205	0.31449	0.0:0.2322:0.0:0.7678	.	65;90	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	V	90;90;101;65	ENSP00000318629:L90V;ENSP00000429680:L65V	ENSP00000318173:L90V	L	+	1	2	VPS37A	17170205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.858000	0.48356	0.935000	0.37341	0.533000	0.62120	TTA		0.343	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		52	279	0	0	0	1	0	52	279				
SMARCA4	6597	broad.mit.edu	37	19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11144146C>T	ENST00000429416.3	+	27	4008	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1243	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1243W(3)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCCATGAGCGGCGCGCCTT	0.637			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		4	Substitution - Missense(3)|Unknown(1)	p.R1243W(3)|p.?(1)	kidney(2)|lung(1)|central_nervous_system(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3727-3729)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							86.0	86.0	86.0					19																	11144146		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144146C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3727C>T	19.37:g.11144146C>T	ENSP00000395654:p.Arg1243Trp					SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W	p.R1243W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	4011	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1243			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3727C>T	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698723|3.698723	0.68501|0.68501	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T|D;D;D;D;D;D;D	0.76060|0.95103	-0.99|-2.35;-2.34;-2.35;-3.61;-3.61;-3.61;-3.61	4.74|4.74	-4.88|-4.88	0.03113|0.03113	.|Helicase, C-terminal (1);	.|0.066410	.|0.64402	.|D	.|0.000011	D|D	0.96876|0.96876	0.8980|0.8980	M|M	0.89287|0.89287	3.02|3.02	0.47994|0.47994	D|D	0.999562|0.999562	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.979;0.995;0.991;0.988	D|D	0.95985|0.95985	0.8981|0.8981	6|10	.|0.87932	.|D	.|0	-32.479|-32.479	16.3987|16.3987	0.83632|0.83632	0.6595:0.3405:0.0:0.0|0.6595:0.3405:0.0:0.0	.|.	.|1243;1243;1243;1243;1243;463;1243	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	V|W	12|1243;1243;1307;1243;1243;1243;1243;1243	ENSP00000443848:A12V|ENSP00000395654:R1243W;ENSP00000350720:R1243W;ENSP00000343896:R1243W;ENSP00000445036:R1243W;ENSP00000392837:R1243W;ENSP00000397783:R1243W;ENSP00000414727:R1243W	.|ENSP00000343896:R1243W	A|R	+|+	2|1	0|2	SMARCA4|SMARCA4	11005146|11005146	0.951000|0.951000	0.32395|0.32395	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	0.134000|0.134000	0.15932|0.15932	-0.414000|-0.414000	0.07495|0.07495	0.558000|0.558000	0.71614|0.71614	GCG|CGG		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		24	662	0	0	0	1	0	24	662				
PCDHB5	26167	broad.mit.edu	37	5	140516822	140516822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516822G>A	ENST00000231134.5	+	1	2023	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	602	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S602S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721																																						ENST00000231134.5																			1	Substitution - coding silent(1)	p.S602S(1)	endometrium(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1804-1806)tcG>tcA									36.0	40.0	38.0					5																	140516822		2058	4034	6092	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516822G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1806G>A	5.37:g.140516822G>A							p.S602S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2023	+			602			Cadherin 6.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1806G>A	CCDS4247.1																																																																																				0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		26	698	0	0	0	1	0	26	698				
PTPN21	11099	broad.mit.edu	37	14	88946237	88946237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88946237C>T	ENST00000556564.1	-	13	1822	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	513					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTAGCTCAGGCTGAACGGGCA	0.711																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1537-1539)aGc>aAc		protein tyrosine phosphatase, non-receptor type 21							35.0	44.0	41.0					14																	88946237		2201	4298	6499	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946237C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1538G>A	14.37:g.88946237C>T	ENSP00000452414:p.Ser513Asn					PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	p.S513N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	1822	-			513						Missense_Mutation	SNP	ENST00000556564.1	37	c.1538G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710303	0.03230	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71222	-0.55;-0.55	5.35	-10.7	0.00240	.	0.392170	0.29987	N	0.010681	T	0.21674	0.0522	N	0.00521	-1.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46062	-0.9218	10	0.02654	T	1	.	8.8099	0.34961	0.0:0.2595:0.4736:0.2669	.	513	Q16825	PTN21_HUMAN	N	513	ENSP00000330276:S513N;ENSP00000452414:S513N	ENSP00000330276:S513N	S	-	2	0	PTPN21	88015990	0.516000	0.26218	0.000000	0.03702	0.349000	0.29174	0.820000	0.27323	-2.497000	0.00513	-0.311000	0.09066	AGC		0.711	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			101	417	0	0	0	1	0	101	417				
NFE2L1	4779	broad.mit.edu	37	17	46128755	46128755	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46128755G>T	ENST00000362042.3	+	2	891	c.275G>T	c.(274-276)aGg>aTg	p.R92M	NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M|NFE2L1_ENST00000361665.3_Missense_Mutation_p.R92M|NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	92					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCTGGACAGGTTCCAGGTG	0.592																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(274-276)aGg>aTg		nuclear factor, erythroid 2-like 1							67.0	71.0	69.0					17																	46128755		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128755G>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.275G>T	17.37:g.46128755G>T	ENSP00000354855:p.Arg92Met					NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M|NFE2L1_ENST00000361665.3_Missense_Mutation_p.R92M|NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M	p.R92M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			2	891	+			92					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.275G>T	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760311	0.31137	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.40225	1.04;1.04	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;P	0.79108	0.992;0.948;0.864	T	0.65051	-0.6262	10	0.54805	T	0.06	-11.4946	17.7252	0.88363	0.0:0.0:1.0:0.0	.	92;92;92	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	M	111;92;92	ENSP00000355190:R92M;ENSP00000350072:R92M	ENSP00000350072:R92M	R	+	2	0	NFE2L1	43483754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.495000	0.84180	0.563000	0.77884	AGG		0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		93	447	1	0	1.11079e-38	1	1.33978e-38	93	447				
ZBTB20	26137	broad.mit.edu	37	3	114058034	114058034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114058034C>T	ENST00000474710.1	-	5	2222	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	682						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGTGCAGGGCCACGTGTCGC	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1825-1827)Gcc>Acc		zinc finger and BTB domain containing 20							98.0	90.0	92.0					3																	114058034		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058034C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2044G>A	3.37:g.114058034C>T	ENSP00000419153:p.Ala682Thr					ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A682T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T	p.A609T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2646	-			682					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1825G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409447	0.83340	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.60068	0.868	T	0.55444	-0.8140	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	682	Q9HC78	ZBT20_HUMAN	T	609;609;609;609;682;609;609	ENSP00000420324:A609T;ENSP00000377375:A609T;ENSP00000418092:A609T;ENSP00000419902:A609T;ENSP00000419153:A682T;ENSP00000349803:A609T;ENSP00000417307:A609T	ENSP00000349803:A609T	A	-	1	0	ZBTB20	115540724	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.842000	0.69417	2.941000	0.99782	0.655000	0.94253	GCC		0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		85	413	0	0	0	1	0	85	413				
CDH23	64072	broad.mit.edu	37	10	73571308	73571308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73571308C>T	ENST00000224721.6	+	63	9259	c.9254C>T	c.(9253-9255)gCc>gTc	p.A3085V	CDH23_ENST00000398788.3_Missense_Mutation_p.A840V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3080					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCCTGGCCGCCATGCTCTTT	0.657																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9253-9255)gCc>gTc		cadherin-related 23							119.0	128.0	125.0					10																	73571308		2158	4240	6398	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73571308C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9254C>T	10.37:g.73571308C>T	ENSP00000224721:p.Ala3085Val					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A840V	p.A3085V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			63	9259	+			3080					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9254C>T		.	.	.	.	.	.	.	.	.	.	C	15.29	2.788300	0.49997	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.58358	0.34	5.36	5.36	0.76844	.	0.072195	0.53938	D	0.000051	T	0.47173	0.1431	L	0.46157	1.445	0.52099	D	0.999943	B;B	0.14012	0.009;0.009	B;B	0.10450	0.005;0.005	T	0.37709	-0.9694	10	0.40728	T	0.16	.	14.3129	0.66429	0.0:0.9264:0.0:0.0735	.	3080;3080	E9PEX1;Q9H251	.;CAD23_HUMAN	V	3085;3080;3083;840	ENSP00000381768:A840V	ENSP00000224721:A3085V	A	+	2	0	CDH23	73241314	1.000000	0.71417	0.993000	0.49108	0.772000	0.43724	4.146000	0.58072	2.520000	0.84964	0.555000	0.69702	GCC		0.657	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		89	450	0	0	0	1	0	89	450				
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31573079C>T	ENST00000379416.3	-	25	2690	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	881					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.R881Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAATAAAGCTCGTTCCATAAT	0.498																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			1	Substitution - Missense(1)	p.R881Q(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2641-2643)cGa>cAa		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						68.0	73.0	71.0					2																	31573079		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31573079C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2642G>A	2.37:g.31573079C>T	ENSP00000368727:p.Arg881Gln						p.R881Q	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			25	2690	-	Acute lymphoblastic leukemia(172;0.155)		881					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2642G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167243	0.38315	.	.	ENSG00000158125	ENST00000379416	T	0.38887	1.11	5.85	4.98	0.66077	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.75150	2.29	0.80722	D	1	P	0.36315	0.547	B	0.33690	0.168	T	0.46911	-0.9157	10	0.46703	T	0.11	.	14.6649	0.68901	0.0:0.9297:0.0:0.0703	.	881	P47989	XDH_HUMAN	Q	881	ENSP00000368727:R881Q	ENSP00000368727:R881Q	R	-	2	0	XDH	31426583	0.996000	0.38824	0.837000	0.33122	0.024000	0.10985	3.984000	0.56923	1.485000	0.48380	0.650000	0.86243	CGA		0.498	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		97	441	0	0	0	1	0	97	441				
EXPH5	23086	broad.mit.edu	37	11	108382146	108382146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108382146G>T	ENST00000265843.4	-	6	4198	c.4088C>A	c.(4087-4089)gCt>gAt	p.A1363D	EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D|EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1363					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATCTCTCTAGCTTTAGATTC	0.413																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4087-4089)gCt>gAt		exophilin 5							40.0	41.0	41.0					11																	108382146		2199	4294	6493	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382146G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4088C>A	11.37:g.108382146G>T	ENSP00000265843:p.Ala1363Asp					EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D	p.A1363D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4198	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1363					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4088C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090475	0.36855	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04406	4.17;4.09;3.94;4.17;4.01;3.63	5.68	2.77	0.32553	.	0.962804	0.08651	N	0.914056	T	0.04861	0.0131	N	0.22421	0.69	0.09310	N	1	B	0.30973	0.302	B	0.36186	0.219	T	0.50004	-0.8878	10	0.30078	T	0.28	-0.0054	7.8658	0.29537	0.1439:0.1312:0.7249:0.0	.	1363	Q8NEV8	EXPH5_HUMAN	D	1363;1287;1175;1356;1287;1175	ENSP00000265843:A1363D;ENSP00000391966:A1287D;ENSP00000411390:A1175D;ENSP00000432546:A1356D;ENSP00000432683:A1287D;ENSP00000446434:A1175D	ENSP00000265843:A1363D	A	-	2	0	EXPH5	107887356	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.987000	0.29603	0.411000	0.25702	-0.216000	0.12614	GCT		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		14	203	1	0	1.49906e-05	1	1.53515e-05	14	203				
MUC4	4585	broad.mit.edu	37	3	195516521	195516521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195516521G>A	ENST00000463781.3	-	2	2389	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q644*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	649					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGTGGTCTGCGGGGCTTGA	0.527																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1930-1932)Cag>Tag		mucin 4, cell surface associated							265.0	273.0	270.0					3																	195516521		2075	4202	6277	SO:0001587	stop_gained	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516521G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1930C>T	3.37:g.195516521G>A	ENSP00000417498:p.Gln644*					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q644*|MUC4_ENST00000349607.4_Intron	p.Q644*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2389	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	649					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	ENST00000463781.3	37	c.1930C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	24.6	4.545486	0.86022	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	2.85	-3.41	0.04839	.	4.474510	0.00597	N	0.000360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	1.7516	9.6298	0.39772	0.0:0.6311:0.2212:0.1476	.	.	.	.	X	644;644;618	.	ENSP00000376209:Q618X	Q	-	1	0	MUC4	197000916	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.088000	0.03379	-0.837000	0.04223	-0.184000	0.12912	CAG		0.527	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		150	708	0	0	0	1	0	150	708				
PRKD2	25865	broad.mit.edu	37	19	47207843	47207843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47207843C>T	ENST00000291281.4	-	4	800	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H|PRKD2_ENST00000433867.1_Missense_Mutation_p.R192H			Q9BZL6	KPCD2_HUMAN	protein kinase D2	192					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCGCCGTTTGCGGGCCCCACT	0.647											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(574-576)cGc>cAc		protein kinase D2							40.0	44.0	43.0					19																	47207843		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47207843C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.575G>A	19.37:g.47207843C>T	ENSP00000291281:p.Arg192His		OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000291281.4_Missense_Mutation_p.R192H	p.R192H	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	5	1052	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	192					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.575G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	35	5.586441	0.96578	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68331	-0.32;-0.32	5.4	5.4	0.78164	.	0.169690	0.38217	U	0.001763	T	0.76688	0.4022	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.58620	0.983;0.983	P;P	0.56127	0.792;0.714	T	0.79140	-0.1926	10	0.72032	D	0.01	-40.6081	17.9478	0.89044	0.0:1.0:0.0:0.0	.	192;192	E7ER94;Q9BZL6	.;KPCD2_HUMAN	H	192	ENSP00000291281:R192H;ENSP00000393978:R192H	ENSP00000291281:R192H	R	-	2	0	PRKD2	51899683	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.453000	0.80700	2.535000	0.85469	0.313000	0.20887	CGC		0.647	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		44	260	0	0	0	1	0	44	260				
DCAF5	8816	broad.mit.edu	37	14	69521423	69521423	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69521423A>C	ENST00000341516.5	-	9	2127	c.1980T>G	c.(1978-1980)atT>atG	p.I660M	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M|DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	660					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCTTTATAAATTTTTCGCT	0.498																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1978-1980)atT>atG		DDB1 and CUL4 associated factor 5							60.0	66.0	64.0					14																	69521423		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69521423A>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1980T>G	14.37:g.69521423A>C	ENSP00000341351:p.Ile660Met					DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M|DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M	p.I660M	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	2127	-			660					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1980T>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589626	0.46214	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.76060	-0.99;-0.83;-0.83;-0.43	5.52	3.18	0.36537	.	0.000000	0.64402	D	0.000004	T	0.75817	0.3901	L	0.32530	0.975	0.42590	D	0.993244	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.75099	-0.3437	10	0.62326	D	0.03	-9.6901	6.6175	0.22784	0.6408:0.0:0.3592:0.0	.	659;660	G3V4J7;Q96JK2	.;DCAF5_HUMAN	M	660;578;578;659	ENSP00000341351:I660M;ENSP00000451551:I578M;ENSP00000452052:I578M;ENSP00000451845:I659M	ENSP00000341351:I660M	I	-	3	3	DCAF5	68591176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.686000	0.37669	0.933000	0.37291	0.459000	0.35465	ATT		0.498	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		80	353	0	0	0	1	0	80	353				
ATP1A4	480	broad.mit.edu	37	1	160156079	160156079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160156079C>T	ENST00000368081.4	+	21	3454	c.2983C>T	c.(2983-2985)Ctc>Ttc	p.L995F	ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	995				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCTGGTGGCTCTGTGCCAT	0.547																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2983-2985)Ctc>Ttc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							269.0	262.0	265.0					1																	160156079		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160156079C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2983C>T	1.37:g.160156079C>T	ENSP00000357060:p.Leu995Phe					ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	p.L995F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3454	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		995	ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).				Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2983C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	c	0.888	-0.726471	0.03158	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.96168	-3.93;-3.93	4.95	-9.89	0.00464	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.279307	0.34932	N	0.003576	T	0.66005	0.2746	N	0.10707	0.03	0.21762	N	0.999552	B	0.02656	0.0	B	0.15052	0.012	T	0.70432	-0.4873	10	0.02654	T	1	.	10.7308	0.46096	0.0:0.1403:0.2396:0.6201	.	995	Q13733	AT1A4_HUMAN	F	995;131	ENSP00000357060:L995F;ENSP00000433094:L131F	ENSP00000357060:L995F	L	+	1	0	ATP1A4	158422703	0.066000	0.20996	0.413000	0.26509	0.731000	0.41821	-0.802000	0.04545	-1.839000	0.01186	-0.494000	0.04653	CTC		0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		273	1509	0	0	0	1	0	273	1509				
PSMC4	5704	broad.mit.edu	37	19	40486618	40486618	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486618T>C	ENST00000157812.2	+	10	1335	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	PSMC4_ENST00000455878.2_Silent_p.C348C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCCATCTGTCAGGAGGTAA	0.532																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1135-1137)tgT>tgC		proteasome (prosome, macropain) 26S subunit, ATPase, 4							140.0	135.0	137.0					19																	40486618		2203	4300	6503	SO:0001819	synonymous_variant	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40486618T>C	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.1137T>C	19.37:g.40486618T>C						PSMC4_ENST00000455878.2_Silent_p.C348C	p.C379C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			10	1335	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		379					Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	37	c.1137T>C	CCDS12547.1																																																																																				0.532	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		78	464	0	0	0	1	0	78	464				
CXorf40B	541578	broad.mit.edu	37	X	149101878	149101878	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149101878A>C	ENST00000370406.3	-	4	1043	c.215T>G	c.(214-216)cTc>cGc	p.L72R	CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	72										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTTCCTGAGCAAGGCCTG	0.562																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(214-216)cTc>cGc		chromosome X open reading frame 40B							230.0	210.0	217.0					X																	149101878		2201	4300	6501	SO:0001583	missense	541578							g.chrX:149101878A>C	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.215T>G	X.37:g.149101878A>C	ENSP00000359434:p.Leu72Arg					CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R|CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R	p.L72R			Q96DE9	CX04B_HUMAN			4	1043	-	Acute lymphoblastic leukemia(192;6.56e-05)		72						Missense_Mutation	SNP	ENST00000370406.3	37	c.215T>G	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	a	15.27	2.784764	0.49997	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	2.94	2.94	0.34122	PUA-like domain (1);	0.148635	0.44483	D	0.000459	T	0.43122	0.1233	M	0.81682	2.555	0.09310	N	0.999995	D	0.69078	0.997	D	0.66351	0.943	T	0.24190	-1.0167	10	0.87932	D	0	-16.5797	9.9496	0.41631	1.0:0.0:0.0:0.0	.	72	Q96DE9	CX04B_HUMAN	R	72	ENSP00000417546:L72R;ENSP00000359434:L72R;ENSP00000347339:L72R;ENSP00000359432:L72R	ENSP00000347339:L72R	L	-	2	0	CXorf40B	148852536	0.382000	0.25148	0.003000	0.11579	0.002000	0.02628	5.177000	0.65032	0.877000	0.35895	0.371000	0.22339	CTC		0.562	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		61	833	0	0	0	1	0	61	833				
FGB	2244	broad.mit.edu	37	4	155487113	155487113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487113C>A	ENST00000302068.4	+	2	331	c.268C>A	c.(268-270)Cct>Act	p.P90T	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	90			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAGAAAAGCCCCTGATGCTGG	0.572																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(268-270)Cct>Act		fibrinogen beta chain	Sucralfate(DB00364)						40.0	39.0	39.0					4																	155487113		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487113C>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.268C>A	4.37:g.155487113C>A	ENSP00000306099:p.Pro90Thr					FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	p.P90T	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			2	331	+	all_hematologic(180;0.215)	Renal(120;0.0458)	90		Missing (in New York-1).			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.268C>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624088	0.87560	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.84800	-1.9	5.21	5.21	0.72293	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.100346	0.64402	D	0.000001	D	0.91928	0.7444	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	D	0.92645	0.6128	10	0.72032	D	0.01	.	19.1257	0.93382	0.0:1.0:0.0:0.0	.	90	P02675	FIBB_HUMAN	T	90;73	ENSP00000306099:P90T	ENSP00000306099:P90T	P	+	1	0	FGB	155706563	0.998000	0.40836	0.980000	0.43619	0.986000	0.74619	5.391000	0.66266	2.597000	0.87782	0.591000	0.81541	CCT		0.572	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		36	191	1	0	1.04352e-10	1	1.10821e-10	36	191				
PCDH15	65217	broad.mit.edu	37	10	55826621	55826621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55826621C>A	ENST00000320301.6	-	18	2510	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L	PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V713L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	706	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGTCACCACTATGTTTACT	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2137-2139)Gtg>Ttg		protocadherin-related 15							93.0	87.0	89.0					10																	55826621		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826621C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2116G>T	10.37:g.55826621C>A	ENSP00000322604:p.Val706Leu	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V706L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L	p.V713L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			19	2531	-		Melanoma(3;0.117)|Lung SC(717;0.238)	706			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2137G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.19;0.72	5.85	4.94	0.65067	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.65575	0.2704	L	0.31526	0.94	0.42527	D	0.993024	D;P;D;P;D;D;D;P;D;P;P;P;D;P;D	0.65815	0.995;0.939;0.974;0.743;0.992;0.988;0.995;0.884;0.97;0.939;0.949;0.884;0.958;0.942;0.988	D;P;P;P;P;P;D;P;P;P;P;P;P;P;D	0.75484	0.986;0.81;0.81;0.51;0.855;0.9;0.986;0.78;0.868;0.826;0.719;0.78;0.607;0.816;0.932	T	0.67522	-0.5649	9	0.46703	T	0.11	.	15.3458	0.74337	0.1409:0.8591:0.0:0.0	.	684;706;706;711;635;669;706;706;713;713;706;711;706;684;706	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	713;711;706;706;317;713;669;706;684;684;706;706;711;635;706	ENSP00000363076:V713L;ENSP00000410304:V711L;ENSP00000378826:V706L;ENSP00000386693:V317L;ENSP00000378832:V713L;ENSP00000378820:V669L;ENSP00000354950:V706L;ENSP00000378821:V684L;ENSP00000363068:V684L;ENSP00000322604:V706L;ENSP00000378818:V706L;ENSP00000412628:V635L;ENSP00000363066:V706L	ENSP00000322604:V706L	V	-	1	0	PCDH15	55496627	0.997000	0.39634	0.736000	0.30914	0.971000	0.66376	3.673000	0.54591	1.465000	0.48006	0.655000	0.94253	GTG		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		63	285	1	0	4.13886e-29	1	4.83036e-29	63	285				
PSG9	5678	broad.mit.edu	37	19	43763286	43763286	+	Splice_Site	SNP	C	C	T	rs4028446		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43763286C>T	ENST00000270077.3	-	4	807	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144S|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Splice_Site_p.S144S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493																																						ENST00000418820.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e3-1		pregnancy specific beta-1-glycoprotein 9																																				SO:0001630	splice_region_variant	5678				female pregnancy	extracellular region		g.chr19:43763286C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.710-1G>A	19.37:g.43763286C>T						PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144_splice|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Splice_Site_p.P237_splice|PSG9_ENST00000291752.5_Intron	p.S144_splice			Q00887	PSG9_HUMAN			3	530	-		Prostate(69;0.00682)	144			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000270077.3	37	c.430_splice	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	0.170	-1.072691	0.01918	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.39	-2.77	0.05877	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.20196	N	0.999921	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	2.0306	0.03528	0.2555:0.3247:0.0:0.4198	rs4028446	.	.	.	Q	131	.	.	R	-	2	0	PSG9	48455126	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.242000	0.02908	-0.656000	0.05380	-1.031000	0.02408	CGA		0.493	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	Silent	172	988	0	0	0	1	0	172	988				
MDN1	23195	broad.mit.edu	37	6	90406269	90406269	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406269T>C	ENST00000369393.3	-	60	9308	c.9193A>G	c.(9193-9195)Ata>Gta	p.I3065V	MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3065					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTAGAGAATATGGGTCTATTG	0.473																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(9193-9195)Ata>Gta		MDN1, midasin homolog (yeast)							58.0	58.0	58.0					6																	90406269		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90406269T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9193A>G	6.37:g.90406269T>C	ENSP00000358400:p.Ile3065Val					MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V	p.I3065V			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	60	9308	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3065					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.9193A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254333	0.22965	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.01871	4.59;4.59	5.65	-4.13	0.03904	.	1.145840	0.06519	N	0.739389	T	0.00271	0.0008	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	10	0.02654	T	1	.	9.2067	0.37293	0.0:0.6208:0.1122:0.267	.	3065	Q9NU22	MDN1_HUMAN	V	3065	ENSP00000358400:I3065V;ENSP00000413970:I3065V	ENSP00000358400:I3065V	I	-	1	0	MDN1	90462990	0.020000	0.18652	0.050000	0.19076	0.927000	0.56198	0.307000	0.19296	-0.669000	0.05289	-0.290000	0.09829	ATA		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			34	198	0	0	0	1	0	34	198				
GPR21	2844	broad.mit.edu	37	9	125797524	125797524	+	Missense_Mutation	SNP	G	G	A	rs200361773	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125797524G>A	ENST00000373642.1	+	1	719	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	227					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGATATCAGCGAAAGGCAAGC	0.512													g|||	2	0.000399361	0.0	0.0	5008	,	,		21105	0.001		0.0	False		,,,				2504	0.001					ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(679-681)Gaa>Aaa		G protein-coupled receptor 21							121.0	116.0	118.0					9																	125797524		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797524G>A	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.679G>A	9.37:g.125797524G>A	ENSP00000362746:p.Glu227Lys					RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron	p.E227K	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	719	+			227					B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.679G>A	CCDS6849.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	0.383	-0.927655	0.02377	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.37058	1.22	5.67	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.157646	0.38605	N	0.001629	T	0.21550	0.0519	L	0.28556	0.865	0.80722	D	1	P	0.40660	0.726	B	0.38655	0.278	T	0.08617	-1.0713	10	0.02654	T	1	-1.093	11.394	0.49830	0.1967:0.0:0.8033:0.0	.	227	Q99679	GPR21_HUMAN	K	227	ENSP00000362746:E227K	ENSP00000362746:E227K	E	+	1	0	GPR21	124837345	1.000000	0.71417	0.999000	0.59377	0.706000	0.40770	3.264000	0.51553	0.358000	0.24211	-1.399000	0.01144	GAA		0.512	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		136	564	0	0	0	1	0	136	564				
SLC7A1	6541	broad.mit.edu	37	13	30104741	30104741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30104741G>A	ENST00000380752.5	-	5	1024	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	213					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTTTAACCGATCCTTTCAC	0.448																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(637-639)tCg>tTg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						165.0	167.0	166.0					13																	30104741		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30104741G>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.638C>T	13.37:g.30104741G>A	ENSP00000370128:p.Ser213Leu						p.S213L	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	5	1024	-		Lung SC(185;0.0257)|Breast(139;0.238)	213					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.638C>T	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905349	0.52333	.	.	ENSG00000139514	ENST00000380752	D	0.90004	-2.6	4.73	2.9	0.33743	Amino acid permease domain (1);	0.334522	0.35646	N	0.003073	D	0.89653	0.6777	L	0.61218	1.895	0.09310	N	0.999999	P	0.48230	0.907	P	0.49276	0.605	D	0.83567	0.0110	10	0.72032	D	0.01	.	14.0371	0.64651	0.0:0.2884:0.7116:0.0	.	213	P30825	CTR1_HUMAN	L	213	ENSP00000370128:S213L	ENSP00000370128:S213L	S	-	2	0	SLC7A1	29002741	1.000000	0.71417	0.037000	0.18230	0.596000	0.36781	4.254000	0.58798	0.651000	0.30788	0.655000	0.94253	TCG		0.448	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		124	575	0	0	0	1	0	124	575				
IL6ST	3572	broad.mit.edu	37	5	55247894	55247894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55247894T>C	ENST00000381298.2	-	13	1874	c.1562A>G	c.(1561-1563)aAa>aGa	p.K521R	IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R|IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	521	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTAGGTCCTTTGGAAGGTGC	0.343			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1561-1563)aAa>aGa		interleukin 6 signal transducer (gp130, oncostatin M receptor)							69.0	60.0	63.0					5																	55247894		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55247894T>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1562A>G	5.37:g.55247894T>C	ENSP00000370698:p.Lys521Arg					IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R|IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381287.4_3'UTR	p.K521R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			13	1874	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	521			Fibronectin type-III 5.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1562A>G	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.757534	0.31137	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.53640	0.61;0.61;2.3	5.83	-3.57	0.04612	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.460210	0.28109	N	0.016572	T	0.25644	0.0624	L	0.28458	0.855	0.52099	D	0.999945	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.13407	0.002;0.009;0.002	T	0.15521	-1.0434	10	0.10902	T	0.67	.	8.4371	0.32793	0.1046:0.4327:0.0:0.4626	.	521;460;521	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	R	521;521;460	ENSP00000370698:K521R;ENSP00000338799:K521R;ENSP00000370694:K460R	ENSP00000338799:K521R	K	-	2	0	IL6ST	55283651	0.747000	0.28283	0.976000	0.42696	0.953000	0.61014	-0.512000	0.06313	-0.357000	0.08175	-0.899000	0.02877	AAA		0.343	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		9	211	0	0	0	1	0	9	211				
ATP4A	495	broad.mit.edu	37	19	36050049	36050049	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050049G>A	ENST00000262623.3	-	8	1129	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	367					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.C367C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCTTGACCACGCAGTTCTTAC	0.617																																						ENST00000262623.3																			1	Substitution - coding silent(1)	p.C367C(1)	lung(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1099-1101)tgC>tgT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						185.0	171.0	175.0					19																	36050049		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050049G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1101C>T	19.37:g.36050049G>A							p.C367C	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1129	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		367					O00738	Silent	SNP	ENST00000262623.3	37	c.1101C>T	CCDS12467.1																																																																																				0.617	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		170	850	0	0	0	1	0	170	850				
PKHD1	5314	broad.mit.edu	37	6	51618011	51618011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51618011C>A	ENST00000371117.3	-	57	9213	c.8938G>T	c.(8938-8940)Gaa>Taa	p.E2980*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2980					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAATTCTTCTCGGCTGGAC	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8938-8940)Gaa>Taa		polycystic kidney and hepatic disease 1 (autosomal recessive)							84.0	86.0	85.0					6																	51618011		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51618011C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8938G>T	6.37:g.51618011C>A	ENSP00000360158:p.Glu2980*					PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	p.E2980*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			57	9213	-	Lung NSC(77;0.0605)		2980					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.8938G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	50	16.920727	0.99875	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.97	5.11	0.69529	.	0.389019	0.26855	N	0.022142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.698	0.45909	0.0:0.8405:0.0:0.1595	.	.	.	.	X	2980	.	ENSP00000341097:E2980X	E	-	1	0	PKHD1	51725970	0.060000	0.20803	0.874000	0.34290	0.478000	0.33099	1.984000	0.40658	1.536000	0.49237	0.655000	0.94253	GAA		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		71	343	1	0	3.78398e-24	1	4.31794e-24	71	343				
BTBD2	55643	broad.mit.edu	37	19	1986857	1986857	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1986857A>G	ENST00000255608.4	-	8	1404	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	463						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTAGTTGACGTTGGGCAG	0.662																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1387-1389)gTc>gCc		BTB (POZ) domain containing 2							51.0	51.0	51.0					19																	1986857		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1986857A>G	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1388T>C	19.37:g.1986857A>G	ENSP00000255608:p.Val463Ala						p.V463A	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1404	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	463					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1388T>C	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773697	0.31411	.	.	ENSG00000133243	ENST00000255608	T	0.74632	-0.86	4.7	3.68	0.42216	PHR (1);	0.059770	0.64402	D	0.000003	T	0.67979	0.2951	L	0.52011	1.625	0.58432	D	0.999998	P	0.36222	0.544	B	0.38683	0.279	T	0.65010	-0.6272	10	0.40728	T	0.16	-44.8083	9.631	0.39778	0.9167:0.0:0.0833:0.0	.	463	Q9BX70	BTBD2_HUMAN	A	463	ENSP00000255608:V463A	ENSP00000255608:V463A	V	-	2	0	BTBD2	1937857	1.000000	0.71417	0.161000	0.22692	0.023000	0.10783	7.112000	0.77086	0.920000	0.36970	0.459000	0.35465	GTC		0.662	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			58	271	0	0	0	1	0	58	271				
MUC16	94025	broad.mit.edu	37	19	9071209	9071209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9071209C>A	ENST00000397910.4	-	3	16440	c.16237G>T	c.(16237-16239)Gaa>Taa	p.E5413*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5415	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGCGGCTTCTGTGTGTGCA	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16237-16239)Gaa>Taa		mucin 16, cell surface associated							455.0	429.0	437.0					19																	9071209		2090	4231	6321	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071209C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16237G>T	19.37:g.9071209C>A	ENSP00000381008:p.Glu5413*						p.E5413*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16440	-			5415			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.16237G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	56	26.853075	0.99970	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.2	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.408	0.21676	0.0:0.6892:0.3108:0.0	.	.	.	.	X	5413	.	ENSP00000381008:E5413X	E	-	1	0	MUC16	8932209	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.965000	0.29319	0.425000	0.26087	0.313000	0.20887	GAA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	2128	1	0	2.32078e-09	1	2.442e-09	30	2128				
PCED1A	64773	broad.mit.edu	37	20	2820524	2820524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2820524C>T	ENST00000360652.2	-	2	537	c.35G>A	c.(34-36)cGc>cAc	p.R12H	VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R12H|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	12																	TCGCAGCGGGCGGCGCGGCTC	0.637																																						ENST00000360652.2																			0											c.(34-36)cGc>cAc		PC-esterase domain containing 1A							84.0	77.0	79.0					20																	2820524		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2820524C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.35G>A	20.37:g.2820524C>T	ENSP00000353868:p.Arg12His					PCED1A_ENST00000356872.3_Missense_Mutation_p.R12H	p.R12H	NM_022760.3	NP_073597.2					2	537	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.35G>A	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940443	0.52972	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000380531;ENST00000448755;ENST00000439542	T;T;T;T	0.48201	0.82;0.85;0.83;0.88	3.83	0.774	0.18521	.	0.377525	0.19589	N	0.110673	T	0.28433	0.0703	L	0.36672	1.1	0.26761	N	0.969998	P;P	0.47106	0.89;0.768	B;B	0.37480	0.251;0.178	T	0.21655	-1.0239	10	0.56958	D	0.05	-1.497	3.2938	0.06958	0.2196:0.5572:0.0:0.2232	.	12;12	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	H	12	ENSP00000349334:R12H;ENSP00000353868:R12H;ENSP00000388935:R12H;ENSP00000401711:R12H	ENSP00000349334:R12H	R	-	2	0	FAM113A	2768524	0.891000	0.30450	0.747000	0.31113	0.709000	0.40893	0.083000	0.14871	0.187000	0.20147	-0.140000	0.14226	CGC		0.637	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		57	221	0	0	0	1	0	57	221				
ALG11	440138	broad.mit.edu	37	13	52598190	52598190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52598190C>T	ENST00000521508.1	+	3	329	c.324C>T	c.(322-324)aaC>aaT	p.N108N	ALG11_ENST00000523764.1_Intron|UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	108			N -> S (in dbSNP:rs17480245).		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTAATGTCAACGGTCAACAGA	0.333																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(322-324)aaC>aaT		ALG11, alpha-1,2-mannosyltransferase							106.0	104.0	105.0					13																	52598190		2203	4300	6503	SO:0001819	synonymous_variant	440138							g.chr13:52598190C>T	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.324C>T	13.37:g.52598190C>T						ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	p.N108N	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	3	329	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Silent	SNP	ENST00000521508.1	37	c.324C>T	CCDS31977.1																																																																																				0.333	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		71	316	0	0	0	1	0	71	316				
CLEC4A	50856	broad.mit.edu	37	12	8290773	8290773	+	Missense_Mutation	SNP	C	C	T	rs142973159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8290773C>T	ENST00000229332.5	+	6	851	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCCCAATGAGCGCTGCGTTGT	0.438													c|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(604-606)Cgc>Tgc		C-type lectin domain family 4, member A							130.0	112.0	118.0					12																	8290773		2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8290773C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.604C>T	12.37:g.8290773C>T	ENSP00000229332:p.Arg202Cys					CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163C	p.R202C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	6	851	+			202			C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.604C>T	CCDS8590.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.66	2.302802	0.40795	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	3.98	-0.149	0.13420	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.878676	0.09463	N	0.798730	T	0.30541	0.0768	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.931;0.931;0.931;0.959	T	0.15636	-1.0430	10	0.72032	D	0.01	.	4.1835	0.10387	0.0:0.5267:0.1701:0.3032	.	163;130;169;202	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	C	202;130;169;163	ENSP00000229332:R202C;ENSP00000344646:R130C;ENSP00000247243:R169C;ENSP00000353690:R163C	ENSP00000229332:R202C	R	+	1	0	CLEC4A	8182040	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.311000	0.08124	-0.030000	0.13804	0.585000	0.79938	CGC		0.438	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		48	244	0	0	0	1	0	48	244				
SAMD9	54809	broad.mit.edu	37	7	92734864	92734864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734864G>A	ENST00000379958.2	-	3	816	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	183						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTGTTTCAGGCTGTAGACTA	0.388																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(547-549)Cct>Tct		sterile alpha motif domain containing 9							149.0	139.0	142.0					7																	92734864		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734864G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.547C>T	7.37:g.92734864G>A	ENSP00000369292:p.Pro183Ser						p.P183S	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	816	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		183					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.547C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902058	0.33628	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15139	2.45;2.45	4.7	4.7	0.59300	.	0.076196	0.52532	D	0.000067	T	0.23572	0.0570	L	0.55990	1.75	0.27564	N	0.950106	P	0.47841	0.901	P	0.44696	0.458	T	0.08146	-1.0736	10	0.72032	D	0.01	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	183	Q5K651	SAMD9_HUMAN	S	183	ENSP00000369292:P183S;ENSP00000414529:P183S	ENSP00000369292:P183S	P	-	1	0	SAMD9	92572800	1.000000	0.71417	0.998000	0.56505	0.133000	0.20885	6.510000	0.73729	2.613000	0.88420	0.603000	0.83216	CCT		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		167	511	0	0	0	1	0	167	511				
SLC22A7	10864	broad.mit.edu	37	6	43266443	43266443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43266443G>A	ENST00000372585.5	+	1	442	c.347G>A	c.(346-348)gGc>gAc	p.G116D	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	116					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGCTCTCAGGGCTGGGAGTAC	0.572																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(346-348)gGc>gAc		solute carrier family 22 (organic anion transporter), member 7							62.0	66.0	64.0					6																	43266443		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266443G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.347G>A	6.37:g.43266443G>A	ENSP00000361666:p.Gly116Asp					SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D	p.G116D	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	442	+			116					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.347G>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392893	0.83011	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.63	4.76	0.60689	Major facilitator superfamily domain (1);	0.105475	0.64402	D	0.000004	T	0.66567	0.2802	M	0.90595	3.13	0.49915	D	0.999835	D;D;D	0.61697	0.99;0.987;0.987	D;D;D	0.71414	0.973;0.954;0.954	T	0.75897	-0.3155	10	0.87932	D	0	.	13.7614	0.62968	0.0:0.0:0.8451:0.1549	.	116;116;116	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	D	116	ENSP00000411818:G116D;ENSP00000361670:G116D;ENSP00000361666:G116D;ENSP00000361655:G116D	ENSP00000361655:G116D	G	+	2	0	SLC22A7	43374421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.944000	0.70219	1.361000	0.45981	0.563000	0.77884	GGC		0.572	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			52	218	0	0	0	1	0	52	218				
HRC	3270	broad.mit.edu	37	19	49655301	49655301	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49655301G>A	ENST00000252825.4	-	4	2172	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C	HRC_ENST00000595625.1_Silent_p.C639C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	662	Metal-binding. {ECO:0000255}.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCAGAGATAGCAGAACTGAC	0.677																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1984-1986)tgC>tgT		histidine rich calcium binding protein							36.0	38.0	38.0					19																	49655301		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49655301G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1986C>T	19.37:g.49655301G>A						HRC_ENST00000595625.1_Silent_p.C639C	p.C662C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	4	2172	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	662			Metal-binding (Potential).		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1986C>T	CCDS12759.1																																																																																				0.677	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		9	264	0	0	0	1	0	9	264				
EEPD1	80820	broad.mit.edu	37	7	36194638	36194638	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36194638A>G	ENST00000242108.4	+	2	1423	c.705A>G	c.(703-705)ccA>ccG	p.P235P	EEPD1_ENST00000534978.1_Silent_p.P235P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	235					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACCTGCCGCCAGGGGGGCCCA	0.667																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(703-705)ccA>ccG		endonuclease/exonuclease/phosphatase family domain containing 1							37.0	41.0	40.0					7																	36194638		2203	4300	6503	SO:0001819	synonymous_variant	80820				DNA repair		DNA binding	g.chr7:36194638A>G	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.705A>G	7.37:g.36194638A>G						EEPD1_ENST00000534978.1_Silent_p.P235P	p.P235P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	1423	+			235					Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	37	c.705A>G	CCDS34619.1																																																																																				0.667	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		43	204	0	0	0	1	0	43	204				
GATA4	2626	broad.mit.edu	37	8	11606439	11606439	+	Missense_Mutation	SNP	G	G	A	rs377673676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11606439G>A	ENST00000335135.4	+	3	1186	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GATA4_ENST00000532059.1_Missense_Mutation_p.D211N|GATA4_ENST00000528712.1_Missense_Mutation_p.D4N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	210					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTTTGACGACTTCTCAGA	0.517																																						ENST00000335135.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(628-630)Gac>Aac		GATA binding protein 4		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	138.0	137.0	138.0		628	5.1	1.0	8		138	0,8600		0,0,4300	no	missense	GATA4	NM_002052.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	210/443	11606439	1,13005	2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11606439G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.628G>A	8.37:g.11606439G>A	ENSP00000334458:p.Asp210Asn					GATA4_ENST00000532059.1_Missense_Mutation_p.D211N|GATA4_ENST00000528712.1_Missense_Mutation_p.D4N	p.D210N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	3	1186	+	all_epithelial(15;0.0839)		210					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.628G>A	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337542	0.81911	2.27E-4	0.0	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.98996	-5.31;-5.15;-4.74;-4.75	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.98937	0.9639	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.69654	0.965;0.703	D	0.99731	1.1012	10	0.62326	D	0.03	0.139	18.0083	0.89216	0.0:0.0:1.0:0.0	.	211;210	B7ZKZ4;P43694	.;GATA4_HUMAN	N	4;4;210;209;211	ENSP00000435043:D4N;ENSP00000435347:D4N;ENSP00000334458:D210N;ENSP00000435712:D211N	ENSP00000259090:D209N	D	+	1	0	GATA4	11643848	1.000000	0.71417	0.971000	0.41717	0.935000	0.57460	9.302000	0.96175	2.793000	0.96121	0.655000	0.94253	GAC		0.517	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		143	652	0	0	0	1	0	143	652				
EXT1	2131	broad.mit.edu	37	8	119122901	119122901	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122901C>T	ENST00000378204.2	-	1	1191	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	129					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGTAACTTTCGGCGATTTTC	0.507			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(385-387)Gaa>Aaa		exostosin glycosyltransferase 1							87.0	95.0	92.0					8																	119122901		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122901C>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.385G>A	8.37:g.119122901C>T	ENSP00000367446:p.Glu129Lys						p.E129K	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1191	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		129					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.385G>A	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271343	0.59649	.	.	ENSG00000182197	ENST00000378204	D	0.97598	-4.45	5.47	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	L	0.42245	1.32	0.58432	D	0.999999	P	0.40250	0.709	B	0.39840	0.311	D	0.93121	0.6525	10	0.17369	T	0.5	-16.4487	15.7067	0.77588	0.0:0.863:0.137:0.0	.	129	Q16394	EXT1_HUMAN	K	129	ENSP00000367446:E129K	ENSP00000367446:E129K	E	-	1	0	EXT1	119192082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.938000	0.70170	2.558000	0.86282	0.462000	0.41574	GAA		0.507	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		110	410	0	0	0	1	0	110	410				
KCNC1	3746	broad.mit.edu	37	11	17793582	17793582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17793582G>A	ENST00000379472.3	+	2	971	c.941G>A	c.(940-942)cGc>cAc	p.R314H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	314					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CGCGTCGTCCGCTTCGTGCGC	0.637																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(940-942)cGc>cAc		potassium voltage-gated channel, Shaw-related subfamily, member 1							68.0	62.0	64.0					11																	17793582		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793582G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.941G>A	11.37:g.17793582G>A	ENSP00000368785:p.Arg314His					KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	p.R314H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	971	+			314					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.941G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241352	0.79912	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.99239	-5.61;-5.61	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97794	1.0240	10	0.87932	D	0	.	18.1947	0.89817	0.0:0.0:1.0:0.0	.	314;314	Q3KNS8;P48547	.;KCNC1_HUMAN	H	314	ENSP00000265969:R314H;ENSP00000368785:R314H	ENSP00000265969:R314H	R	+	2	0	KCNC1	17750158	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.869000	0.99810	2.290000	0.77057	0.561000	0.74099	CGC		0.637	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		51	206	0	0	0	1	0	51	206				
TAF2	6873	broad.mit.edu	37	8	120803660	120803660	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120803660A>G	ENST00000378164.2	-	11	1615	c.1317T>C	c.(1315-1317)caT>caC	p.H439H		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	439					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGACAGTGTATGTGGATGCT	0.323																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(1315-1317)caT>caC		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							100.0	95.0	97.0					8																	120803660		2203	4299	6502	SO:0001819	synonymous_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120803660A>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1317T>C	8.37:g.120803660A>G							p.H439H	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		11	1615	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		439					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.1317T>C	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	A	6.538	0.467601	0.12402	.	.	ENSG00000064313	ENST00000523904	.	.	.	4.79	-1.66	0.08265	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55642	-0.8109	4	.	.	.	-28.6868	11.6465	0.51263	0.4583:0.0:0.5417:0.0	.	.	.	.	T	132	.	.	I	-	2	0	TAF2	120872841	1.000000	0.71417	0.878000	0.34440	0.747000	0.42532	1.180000	0.32005	-0.229000	0.09854	-0.456000	0.05471	ATA		0.323	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		43	190	0	0	0	1	0	43	190				
PITPNA	5306	broad.mit.edu	37	17	1438814	1438814	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1438814T>C	ENST00000313486.7	-	8	712		c.e8-2		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha						axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CTTGTAATCCTGAGAGAAATT	0.478																																						ENST00000313486.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.e8-2		phosphatidylinositol transfer protein, alpha							59.0	56.0	57.0					17																	1438814		1869	4107	5976	SO:0001630	splice_region_variant	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1438814T>C	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.457-2A>G	17.37:g.1438814T>C						PITPNA_ENST00000539476.1_Splice_Site		NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	8	712	-									Splice_Site	SNP	ENST00000313486.7	37		CCDS45563.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187847	0.78789	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.913	0.70773	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITPNA	1385564	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.933000	0.87642	2.205000	0.71048	0.533000	0.62120	.		0.478	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3		Intron	36	160	0	0	0	1	0	36	160				
POLR2A	5430	broad.mit.edu	37	17	7417442	7417442	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7417442C>A	ENST00000322644.6	+	29	6258	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1953	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAGCCCCACCTACAGTCTCA	0.662																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5857-5859)acC>acA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							80.0	69.0	72.0					17																	7417442		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417442C>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5859C>A	17.37:g.7417442C>A							p.T1953T	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	6258	+		Prostate(122;0.173)	1953			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.5859C>A	CCDS32548.1																																																																																				0.662	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		13	262	1	0	2.27111e-07	1	2.35674e-07	13	262				
NDST1	3340	broad.mit.edu	37	5	149929267	149929267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149929267C>T	ENST00000261797.6	+	13	2846	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	NDST1_ENST00000523767.1_Missense_Mutation_p.R725C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	782	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACTGCTTCGCACAGAACC	0.532																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2344-2346)Cgc>Tgc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							117.0	97.0	104.0					5																	149929267		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149929267C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2344C>T	5.37:g.149929267C>T	ENSP00000261797:p.Arg782Cys					NDST1_ENST00000523767.1_Missense_Mutation_p.R725C	p.R782C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2846	+		all_hematologic(541;0.224)	782			Heparan sulfate N-sulfotransferase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.2344C>T	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007009	0.74932	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;D	0.82893	0.5;-1.66	5.01	3.17	0.36434	Sulfotransferase domain (1);	0.056562	0.64402	D	0.000001	D	0.89784	0.6815	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.967;0.985	D	0.90059	0.4155	10	0.72032	D	0.01	.	14.0209	0.64555	0.2763:0.7237:0.0:0.0	.	725;782	E7EVJ3;P52848	.;NDST1_HUMAN	C	725;782	ENSP00000428604:R725C;ENSP00000261797:R782C	ENSP00000261797:R782C	R	+	1	0	NDST1	149909460	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	1.493000	0.35605	0.583000	0.29574	0.591000	0.81541	CGC		0.532	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		34	124	0	0	0	1	0	34	124				
DNHD1	144132	broad.mit.edu	37	11	6541262	6541262	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6541262T>C	ENST00000527990.2	+	7	1715	c.1715T>C	c.(1714-1716)gTg>gCg	p.V572A	DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A|DNHD1_ENST00000254579.6_Missense_Mutation_p.V572A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	572					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCTCATGTGCCCTGTGTT	0.493																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1714-1716)gTg>gCg		dynein heavy chain domain 1							141.0	127.0	132.0					11																	6541262		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6541262T>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1715T>C	11.37:g.6541262T>C	ENSP00000436180:p.Val572Ala					DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A|DNHD1_ENST00000527990.2_Missense_Mutation_p.V572A	p.V572A	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	9	2279	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	572					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1715T>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	2.002	-0.429110	0.04701	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.26957	1.7;2.74;1.7	5.88	2.21	0.28008	.	0.953008	0.08759	N	0.898000	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.39418	-0.9615	10	0.09590	T	0.72	.	4.5634	0.12172	0.4278:0.0956:0.0:0.4766	.	572;572	Q96M86;Q96M86-4	DNHD1_HUMAN;.	A	572	ENSP00000254579:V572A;ENSP00000346716:V572A;ENSP00000436180:V572A	ENSP00000254579:V572A	V	+	2	0	DNHD1	6497838	0.269000	0.24143	0.750000	0.31169	0.017000	0.09413	0.687000	0.25407	0.119000	0.18210	-0.496000	0.04628	GTG		0.493	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		117	555	0	0	0	1	0	117	555				
COPB1	1315	broad.mit.edu	37	11	14510081	14510081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14510081A>G	ENST00000249923.3	-	6	956	c.656T>C	c.(655-657)tTt>tCt	p.F219S	COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	219					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AATGTCTCCAAATGTTTGAAC	0.313																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(655-657)tTt>tCt		coatomer protein complex, subunit beta 1							67.0	66.0	67.0					11																	14510081		2200	4285	6485	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14510081A>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.656T>C	11.37:g.14510081A>G	ENSP00000249923:p.Phe219Ser					COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	p.F219S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			6	956	-			219					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.656T>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532635	0.85812	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.24350	1.86;1.86;1.86	4.9	4.9	0.64082	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60198	-0.7310	10	0.38643	T	0.18	.	14.817	0.70041	1.0:0.0:0.0:0.0	.	219	P53618	COPB_HUMAN	S	219	ENSP00000249923:F219S;ENSP00000397873:F219S;ENSP00000436383:F219S	ENSP00000249923:F219S	F	-	2	0	COPB1	14466657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	1.956000	0.56807	0.533000	0.62120	TTT		0.313	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		25	135	0	0	0	1	0	25	135				
TSPAN13	27075	broad.mit.edu	37	7	16818722	16818722	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16818722T>C	ENST00000262067.4	+	5	954	c.521T>C	c.(520-522)cTg>cCg	p.L174P		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	174						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GGCATTGGCCTGTTCTTCAGT	0.423																																						ENST00000262067.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7						c.(520-522)cTg>cCg		tetraspanin 13							166.0	156.0	160.0					7																	16818722		2203	4300	6503	SO:0001583	missense	27075					integral to plasma membrane|membrane fraction		g.chr7:16818722T>C	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.521T>C	7.37:g.16818722T>C	ENSP00000262067:p.Leu174Pro						p.L174P	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.188)	5	954	+	Lung NSC(10;0.0494)|all_lung(11;0.109)		174						Missense_Mutation	SNP	ENST00000262067.4	37	c.521T>C	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957719	0.73902	.	.	ENSG00000106537	ENST00000262067	D	0.82984	-1.67	5.75	4.58	0.56647	.	0.172861	0.52532	D	0.000066	D	0.90920	0.7146	M	0.86651	2.83	0.80722	D	1	D	0.63046	0.992	D	0.64321	0.924	D	0.91774	0.5430	10	0.87932	D	0	-10.9269	13.1148	0.59294	0.0:0.0:0.1338:0.8662	.	174	O95857	TSN13_HUMAN	P	174	ENSP00000262067:L174P	ENSP00000262067:L174P	L	+	2	0	TSPAN13	16785247	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.994000	0.88315	0.984000	0.38629	0.459000	0.35465	CTG		0.423	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		54	191	0	0	0	1	0	54	191				
BMPR1A	657	broad.mit.edu	37	10	88659555	88659555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88659555C>A	ENST00000372037.3	+	6	875	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	113					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTTTAGGATTCTCCAAAAGCC	0.353			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(337-339)tCt>tAt		bone morphogenetic protein receptor, type IA							63.0	65.0	64.0					10																	88659555		2203	4300	6503	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88659555C>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.338C>A	10.37:g.88659555C>A	ENSP00000361107:p.Ser113Tyr						p.S113Y	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			6	875	+			113					A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.338C>A	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739875	0.69304	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.90444	-2.67	5.2	5.2	0.72013	TGF-beta receptor/activin receptor, type I/II (1);	0.060693	0.64402	D	0.000002	D	0.93562	0.7945	M	0.62266	1.93	0.80722	D	1	D	0.55385	0.971	P	0.62491	0.903	D	0.92920	0.6354	10	0.42905	T	0.14	.	16.0145	0.80427	0.0:1.0:0.0:0.0	.	113	P36894	BMR1A_HUMAN	Y	113	ENSP00000361107:S113Y	ENSP00000224764:S113Y	S	+	2	0	BMPR1A	88649535	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.954000	0.76001	2.585000	0.87301	0.563000	0.77884	TCT		0.353	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		54	232	1	0	3.31993e-32	1	3.91856e-32	54	232				
FBXO40	51725	broad.mit.edu	37	3	121341856	121341856	+	Missense_Mutation	SNP	C	C	T	rs367937919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341856C>T	ENST00000338040.4	+	3	1994	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	527					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATTTCCGTCCCCCAGGGCAA	0.502																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1579-1581)cCc>cTc		F-box protein 40							55.0	53.0	54.0					3																	121341856		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341856C>T	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1580C>T	3.37:g.121341856C>T	ENSP00000337510:p.Pro527Leu						p.P527L	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1994	+			527					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1580C>T	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156510	0.78114	.	.	ENSG00000163833	ENST00000338040	T	0.55760	0.5	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.74558	0.3732	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76302	-0.3009	10	0.87932	D	0	-22.4823	17.913	0.88940	0.0:1.0:0.0:0.0	.	527	Q9UH90	FBX40_HUMAN	L	527	ENSP00000337510:P527L	ENSP00000337510:P527L	P	+	2	0	FBXO40	122824546	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	CCC		0.502	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		48	206	0	0	0	1	0	48	206				
UGT2A3	79799	broad.mit.edu	37	4	69796399	69796399	+	Missense_Mutation	SNP	C	C	T	rs578203341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69796399C>T	ENST00000251566.4	-	5	1199	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	390					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATGGGAACTCCCACCATAGG	0.403																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1168-1170)gGa>gAa		UDP glucuronosyltransferase 2 family, polypeptide A3							78.0	80.0	79.0					4																	69796399		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796399C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1169G>A	4.37:g.69796399C>T	ENSP00000251566:p.Gly390Glu					UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	p.G390E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			5	1199	-			390					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1169G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533671	0.27387	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.63580	-0.05;3.15	1.99	1.99	0.26369	.	0.060660	0.64402	D	0.000004	D	0.82403	0.5029	H	0.97291	3.975	0.35821	D	0.824608	D	0.89917	1.0	D	0.97110	1.0	D	0.83940	0.0311	10	0.54805	T	0.06	.	5.7269	0.18018	0.318:0.6819:0.0:0.0	.	390	Q6UWM9	UD2A3_HUMAN	E	390;101	ENSP00000251566:G390E;ENSP00000440115:G101E	ENSP00000251566:G390E	G	-	2	0	UGT2A3	69830988	0.959000	0.32827	0.429000	0.26710	0.147000	0.21601	2.751000	0.47508	1.094000	0.41399	0.491000	0.48974	GGA		0.403	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		35	417	0	0	0	1	0	35	417				
TMIGD2	126259	broad.mit.edu	37	19	4292780	4292780	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4292780T>C	ENST00000301272.2	-	5	710	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMIGD2_ENST00000600349.1_Missense_Mutation_p.Y50C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C|TMIGD2_ENST00000600114.1_Missense_Mutation_p.Y102C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	222					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGTTGAATAAATGCTCTG	0.672																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(664-666)tAt>tGt		transmembrane and immunoglobulin domain containing 2							36.0	42.0	40.0					19																	4292780		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4292780T>C	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.665A>G	19.37:g.4292780T>C	ENSP00000301272:p.Tyr222Cys					TMIGD2_ENST00000600114.1_Missense_Mutation_p.Y102C|TMIGD2_ENST00000600349.1_Missense_Mutation_p.Y50C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C	p.Y222C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	710	-			222					Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.665A>G	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956511	0.34565	.	.	ENSG00000167664	ENST00000301272	T	0.55588	0.51	3.04	0.695	0.18070	.	.	.	.	.	T	0.55321	0.1913	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.94	T	0.45175	-0.9279	9	0.66056	D	0.02	.	7.3198	0.26521	0.0:0.0:0.4456:0.5544	.	218;222	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	C	222	ENSP00000301272:Y222C	ENSP00000301272:Y222C	Y	-	2	0	TMIGD2	4243780	0.699000	0.27786	0.000000	0.03702	0.076000	0.17211	1.622000	0.36997	-0.039000	0.13602	0.454000	0.30748	TAT		0.672	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		9	417	0	0	0	1	0	9	417				
EIF4G1	1981	broad.mit.edu	37	3	184042077	184042077	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184042077A>G	ENST00000346169.2	+	17	2832	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.D855G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	854	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGAGAAAGACAAAGATGAT	0.443																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2563-2565)gAc>gGc		eukaryotic translation initiation factor 4 gamma, 1							158.0	150.0	152.0					3																	184042077		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184042077A>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2561A>G	3.37:g.184042077A>G	ENSP00000316879:p.Asp854Gly					EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G|EIF4G1_ENST00000346169.2_Missense_Mutation_p.D854G	p.D855G	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2978	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		854			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2564A>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492538	0.84962	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.71	5.71	0.89125	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.042620	0.85682	D	0.000000	T	0.30510	0.0767	N	0.26130	0.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;0.988;0.994	D;D;D;D	0.81914	0.995;0.947;0.934;0.971	T	0.03651	-1.1016	10	0.08381	T	0.77	-19.4074	16.3019	0.82825	1.0:0.0:0.0:0.0	.	861;855;854;861	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	G	854;814;767;862;861;795;690;861;768;855;854;861;815;690;691;659;658	ENSP00000316879:D854G;ENSP00000391935:D814G;ENSP00000376320:D767G;ENSP00000413159:D862G;ENSP00000371767:D861G;ENSP00000403269:D795G;ENSP00000317600:D690G;ENSP00000338020:D861G;ENSP00000407682:D768G;ENSP00000343450:D855G;ENSP00000323737:D854G;ENSP00000416255:D861G;ENSP00000395974:D815G;ENSP00000398145:D690G;ENSP00000399858:D691G;ENSP00000411826:D659G;ENSP00000404754:D658G	ENSP00000323737:D854G	D	+	2	0	EIF4G1	185524771	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.297000	0.96120	2.317000	0.78254	0.459000	0.35465	GAC		0.443	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		90	477	0	0	0	1	0	90	477				
WDR18	57418	broad.mit.edu	37	19	990913	990913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:990913C>A	ENST00000251289.5	+	5	682	c.659C>A	c.(658-660)gCa>gAa	p.A220E	WDR18_ENST00000587001.2_Missense_Mutation_p.A220E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	220					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATCATGGCAGTGACCATG	0.652																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(658-660)gCa>gAa		WD repeat domain 18							73.0	67.0	69.0					19																	990913		2202	4299	6501	SO:0001583	missense	57418							g.chr19:990913C>A		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.659C>A	19.37:g.990913C>A	ENSP00000251289:p.Ala220Glu					WDR18_ENST00000587001.2_Missense_Mutation_p.A220E	p.A220E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	682	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	220					O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	37	c.659C>A	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350431	0.41599	.	.	ENSG00000065268	ENST00000251289	T	0.20332	2.08	3.93	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.190944	0.46442	D	0.000281	T	0.28001	0.0690	M	0.70595	2.14	0.43390	D	0.995501	P	0.44776	0.843	B	0.41723	0.365	T	0.29852	-0.9998	10	0.72032	D	0.01	.	15.1128	0.72372	0.0:1.0:0.0:0.0	.	220	Q9BV38	WDR18_HUMAN	E	220	ENSP00000251289:A220E	ENSP00000251289:A220E	A	+	2	0	WDR18	941913	1.000000	0.71417	0.198000	0.23420	0.043000	0.13939	7.146000	0.77373	2.034000	0.60081	0.591000	0.81541	GCA		0.652	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			8	300	1	0	0.00307968	1	0.00310409	8	300				
PTPDC1	138639	broad.mit.edu	37	9	96859904	96859904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96859904C>A	ENST00000375360.3	+	7	1234	c.894C>A	c.(892-894)gaC>gaA	p.D298E	PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	298					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGCTGCTGGACTTAGCGGAGA	0.463																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(892-894)gaC>gaA		protein tyrosine phosphatase domain containing 1							87.0	85.0	86.0					9																	96859904		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859904C>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.894C>A	9.37:g.96859904C>A	ENSP00000364509:p.Asp298Glu					PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350E	p.D298E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1234	+			298					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.894C>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939996	0.52972	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12672	2.66;2.66	5.64	2.78	0.32641	.	0.041854	0.85682	D	0.000000	T	0.20088	0.0483	M	0.69823	2.125	0.42409	D	0.992596	P;P;B;P	0.41929	0.765;0.532;0.264;0.584	P;B;B;B	0.44359	0.447;0.348;0.132;0.351	T	0.04413	-1.0953	10	0.62326	D	0.03	-24.5012	10.5814	0.45257	0.0:0.7951:0.0:0.2049	.	352;350;352;298	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	E	298;350	ENSP00000364509:D298E;ENSP00000288976:D350E	ENSP00000288976:D350E	D	+	3	2	PTPDC1	95899725	0.995000	0.38212	1.000000	0.80357	0.911000	0.54048	0.749000	0.26320	1.384000	0.46424	0.655000	0.94253	GAC		0.463	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		22	450	1	0	5.26018e-13	1	5.6673e-13	22	450				
TEX2	55852	broad.mit.edu	37	17	62290429	62290429	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290429T>G	ENST00000583097.1	-	2	1321	c.1149A>C	c.(1147-1149)aaA>aaC	p.K383N	TEX2_ENST00000584379.1_Missense_Mutation_p.K383N|TEX2_ENST00000258991.3_Missense_Mutation_p.K383N			Q8IWB9	TEX2_HUMAN	testis expressed 2	383					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTGGGAACTTTTCAGTTCTA	0.478																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1147-1149)aaA>aaC		testis expressed 2							64.0	66.0	65.0					17																	62290429		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290429T>G	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1149A>C	17.37:g.62290429T>G	ENSP00000462665:p.Lys383Asn					TEX2_ENST00000584379.1_Missense_Mutation_p.K383N|TEX2_ENST00000583097.1_Missense_Mutation_p.K383N	p.K383N			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1233	-			383					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1149A>C		.	.	.	.	.	.	.	.	.	.	T	1.019	-0.685572	0.03328	.	.	ENSG00000136478	ENST00000258991	T	0.47528	0.84	6.17	-6.78	0.01721	.	0.567277	0.19790	N	0.106011	T	0.29556	0.0737	N	0.22421	0.69	0.09310	N	1	B;B	0.28605	0.217;0.138	B;B	0.26094	0.066;0.03	T	0.01945	-1.1242	10	0.42905	T	0.14	-7.3674	17.5523	0.87880	0.0:0.6324:0.0:0.3676	.	383;383	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	N	383	ENSP00000258991:K383N	ENSP00000258991:K383N	K	-	3	2	TEX2	59644161	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.499000	0.06413	-1.204000	0.02648	-0.274000	0.10170	AAA		0.478	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		86	425	0	0	0	1	0	86	425				
KIF17	57576	broad.mit.edu	37	1	21031182	21031182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21031182C>T	ENST00000247986.2	-	5	1191	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	294	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGCAGCAGCCGCGTCAGCTT	0.627																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(880-882)cGg>cAg		kinesin family member 17							94.0	83.0	86.0					1																	21031182		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031182C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.881G>A	1.37:g.21031182C>T	ENSP00000247986:p.Arg294Gln					KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q	p.R294Q			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1191	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	294					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.881G>A	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010521	0.93346	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.77098	-1.07;-1.07;-1.07	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.000000	0.29638	U	0.011585	D	0.87657	0.6232	M	0.82923	2.615	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.982	D	0.88744	0.3245	10	0.87932	D	0	.	11.3633	0.49657	0.0:0.9066:0.0:0.0934	.	294;294	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	Q	194;294;294	ENSP00000364184:R194Q;ENSP00000383311:R294Q;ENSP00000247986:R294Q	ENSP00000247986:R294Q	R	-	2	0	KIF17	20903769	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	4.925000	0.63425	2.554000	0.86153	0.462000	0.41574	CGG		0.627	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		48	412	0	0	0	1	0	48	412				
SATB1	6304	broad.mit.edu	37	3	18456684	18456684	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18456684G>A	ENST00000338745.6	-	5	2292	c.558C>T	c.(556-558)caC>caT	p.H186H	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Silent_p.H186H|SATB1_ENST00000417717.2_Silent_p.H186H	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	186	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCACTGTGGTGTGCGACCATT	0.448																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(556-558)caC>caT		SATB homeobox 1							117.0	106.0	110.0					3																	18456684		2203	4300	6503	SO:0001819	synonymous_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18456684G>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.558C>T	3.37:g.18456684G>A						SATB1_ENST00000417717.2_Silent_p.H186H|SATB1_ENST00000454909.2_Silent_p.H186H|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	p.H186H	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			5	2292	-			186			PDZ-like dimerization domain.		B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	c.558C>T	CCDS2631.1																																																																																				0.448	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		27	332	0	0	0	1	0	27	332				
MATN2	4147	broad.mit.edu	37	8	99030295	99030295	+	Silent	SNP	C	C	T	rs374356192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99030295C>T	ENST00000520016.1	+	11	1894	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	MATN2_ENST00000522025.2_Silent_p.C306C|MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000521689.1_Silent_p.C590C|MATN2_ENST00000254898.5_Silent_p.C590C			O00339	MATN2_HUMAN	matrilin 2	590	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CATACACGTGCGAGTGCTTGG	0.507																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(1768-1770)tgC>tgT		matrilin 2		C	,	0,4174		0,0,2087	212.0	219.0	217.0		1770,1770	5.2	1.0	8		217	1,8435		0,1,4217	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	0,1,6304	TT,TC,CC		0.0119,0.0,0.0079	,	590/957,590/938	99030295	1,12609	2087	4218	6305	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99030295C>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1770C>T	8.37:g.99030295C>T						MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000521689.1_Silent_p.C590C|MATN2_ENST00000520016.1_Silent_p.C590C|MATN2_ENST00000522025.2_Silent_p.C306C	p.C590C	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		12	2001	+	Breast(36;1.43e-06)		590			EGF-like 9.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.1770C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	1.490	-0.554985	0.03967	0.0	1.19E-4	ENSG00000132561	ENST00000518154;ENST00000517321	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2589	12.2666	0.54681	0.0:0.9233:0.0:0.0767	.	.	.	.	X	373;65	.	.	R	+	1	2	MATN2	99099471	0.093000	0.21703	1.000000	0.80357	0.014000	0.08584	0.633000	0.24598	2.691000	0.91804	0.655000	0.94253	CGA		0.507	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			172	768	0	0	0	1	0	172	768				
ZAN	7455	broad.mit.edu	37	7	100364868	100364868	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100364868C>T	ENST00000348028.3	+	0	5013				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCTCAGAGGCTGTAAGGTCA	0.607																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							48.0	48.0	48.0					7																	100364868		2136	4233	6369			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364868C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364868C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4996	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		35	169	0	0	0	1	0	35	169				
ARHGAP31	57514	broad.mit.edu	37	3	119128481	119128481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119128481G>A	ENST00000264245.4	+	11	2316	c.1784G>A	c.(1783-1785)aGc>aAc	p.S595N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	595					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTCCTTGAGCTCTCAACAT	0.567																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1783-1785)aGc>aAc		Rho GTPase activating protein 31							28.0	32.0	31.0					3																	119128481		1896	4104	6000	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119128481G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1784G>A	3.37:g.119128481G>A	ENSP00000264245:p.Ser595Asn						p.S595N	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			11	2316	+			595					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1784G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.268380	0.01433	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06687	3.27	5.27	3.44	0.39384	.	0.625587	0.15216	N	0.274181	T	0.05364	0.0142	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.40961	-0.9535	10	0.26408	T	0.33	.	6.9468	0.24522	0.0926:0.1758:0.7316:0.0	.	595	Q2M1Z3	RHG31_HUMAN	N	595	ENSP00000264245:S595N	ENSP00000264245:S595N	S	+	2	0	ARHGAP31	120611171	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.240000	0.18042	0.757000	0.33036	0.563000	0.77884	AGC		0.567	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			5	142	0	0	0	1	0	5	142				
COL5A1	1289	broad.mit.edu	37	9	137703363	137703363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137703363G>A	ENST00000371817.3	+	46	4022	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1203	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGGGCCTCGGGGCCAGCAG	0.652											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3607-3609)cGg>cAg		collagen, type V, alpha 1							19.0	22.0	21.0					9																	137703363		2198	4282	6480	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137703363G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3608G>A	9.37:g.137703363G>A	ENSP00000360882:p.Arg1203Gln		OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1635		p.R1203Q	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	46	4022	+		Myeloproliferative disorder(178;0.0341)	1203			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3608G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617406	0.66672	.	.	ENSG00000130635	ENST00000371817	D	0.93659	-3.26	4.19	4.19	0.49359	.	0.000000	0.85682	U	0.000000	D	0.94215	0.8143	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.70227	0.968	D	0.94818	0.7984	10	0.54805	T	0.06	.	16.5137	0.84293	0.0:0.0:1.0:0.0	.	1203	P20908	CO5A1_HUMAN	Q	1203	ENSP00000360882:R1203Q	ENSP00000360882:R1203Q	R	+	2	0	COL5A1	136843184	1.000000	0.71417	0.359000	0.25824	0.434000	0.31775	9.707000	0.98725	1.886000	0.54624	0.544000	0.68410	CGG		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		29	114	0	0	0	1	0	29	114				
MLLT4	4301	broad.mit.edu	37	6	168363200	168363200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168363200C>T	ENST00000447894.2	+	30	4900	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1634C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAAGAGCGCCGGCGGCA	0.547			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		1	Substitution - Missense(1)	p.R1634C(1)	kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4900-4902)Cgc>Tgc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							89.0	112.0	104.0					6																	168363200		2029	4170	6199	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168363200C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4900C>T	6.37:g.168363200C>T	ENSP00000404595:p.Arg1634Cys					MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C	p.R1634C			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	31	5042	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1634					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4900C>T		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195144	0.38806	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.58210	3.56;0.66;3.55;0.66;0.66;0.35;0.66	4.06	3.16	0.36331	.	0.083308	0.45606	D	0.000348	T	0.54191	0.1843	L	0.57536	1.79	0.43255	D	0.995184	D;D;P	0.57571	0.966;0.98;0.95	B;P;P	0.59948	0.402;0.606;0.866	T	0.61197	-0.7111	10	0.87932	D	0	-3.5836	13.5002	0.61449	0.0:0.8355:0.1645:0.0	.	1634;1644;1632	P55196;P55196-5;P55196-6	AFAD_HUMAN;.;.	C	1646;1641;1632;1634;1617;1646;1644;1634	ENSP00000341118:R1646C;ENSP00000252692:R1641C;ENSP00000375956:R1632C;ENSP00000355771:R1634C;ENSP00000375960:R1617C;ENSP00000383623:R1644C;ENSP00000404595:R1634C	ENSP00000345834:R1646C	R	+	1	0	MLLT4	168106049	1.000000	0.71417	0.502000	0.27614	0.018000	0.09664	2.359000	0.44142	0.771000	0.33359	0.591000	0.81541	CGC		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		118	617	0	0	0	1	0	118	617				
OTOP2	92736	broad.mit.edu	37	17	72923852	72923852	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72923852G>A	ENST00000580223.1	+	4	632	c.602G>A	c.(601-603)aGt>aAt	p.S201N	OTOP2_ENST00000331427.4_Missense_Mutation_p.S201N			Q7RTS6	OTOP2_HUMAN	otopetrin 2	201						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCTACAGCAGTTCTCACAGC	0.582																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(601-603)aGt>aAt		otopetrin 2							112.0	81.0	91.0					17																	72923852		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72923852G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.602G>A	17.37:g.72923852G>A	ENSP00000463837:p.Ser201Asn					OTOP2_ENST00000580223.1_Missense_Mutation_p.S201N	p.S201N	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			5	694	+	all_lung(278;0.172)|Lung NSC(278;0.207)		201						Missense_Mutation	SNP	ENST00000580223.1	37	c.602G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482573	0.12581	.	.	ENSG00000183034	ENST00000331427	T	0.21734	1.99	4.75	0.251	0.15540	.	1.299010	0.04493	N	0.379935	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26189	-1.0110	10	0.17369	T	0.5	-15.6766	1.5731	0.02619	0.2565:0.1416:0.4567:0.1451	.	201	Q7RTS6	OTOP2_HUMAN	N	201	ENSP00000332528:S201N	ENSP00000332528:S201N	S	+	2	0	OTOP2	70435447	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.431000	0.21444	-0.002000	0.14469	0.561000	0.74099	AGT		0.582	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		33	143	0	0	0	1	0	33	143				
TLE4	7091	broad.mit.edu	37	9	82335058	82335058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82335058C>T	ENST00000376552.2	+	16	2706	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376520.4_Missense_Mutation_p.A595V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V|TLE4_ENST00000376537.4_Missense_Mutation_p.A595V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	563					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGGACCTGGCGGCTCCAACC	0.582																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1783-1785)gCg>gTg		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							64.0	63.0	63.0					9																	82335058		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82335058C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1688C>T	9.37:g.82335058C>T	ENSP00000365735:p.Ala563Val					TLE4_ENST00000376552.2_Missense_Mutation_p.A563V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V|TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376537.4_Missense_Mutation_p.A595V	p.A595V			O60756	BCE1_HUMAN			17	2612	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1784C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636386	0.87760	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	L	0.35723	1.085	0.80722	D	1	D;D;D;D	0.89917	0.998;0.993;0.98;1.0	P;B;B;P	0.52454	0.699;0.229;0.347;0.691	T	0.00128	-1.2018	10	0.66056	D	0.02	-18.4705	19.8557	0.96758	0.0:1.0:0.0:0.0	.	538;494;595;563	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	563;494;595;595;200;538	ENSP00000365735:A563V;ENSP00000365727:A494V;ENSP00000365703:A595V;ENSP00000365720:A595V;ENSP00000365717:A200V;ENSP00000265284:A538V	ENSP00000265284:A538V	A	+	2	0	TLE4	81524878	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.818000	0.86416	2.688000	0.91661	0.591000	0.81541	GCG		0.582	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		53	220	0	0	0	1	0	53	220				
TMEM74B	55321	broad.mit.edu	37	20	1161920	1161920	+	Missense_Mutation	SNP	C	C	T	rs147671569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1161920C>T	ENST00000381894.3	-	2	1014	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	115						integral component of membrane (GO:0016021)											GGGCGGCTCACGGGCTCCAGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17904	0.0		0.0	False		,,,				2504	0.0					ENST00000381894.3																			0											c.(343-345)Gtg>Atg		transmembrane protein 74B		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	68.0	75.0	73.0		343	2.0	0.9	20	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C20orf46	NM_018354.1	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	115/257	1161920	2,13004	2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1161920C>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.343G>A	20.37:g.1161920C>T	ENSP00000371318:p.Val115Met						p.V115M	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	1014	-			115					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.343G>A	CCDS13011.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.79	2.937811	0.52972	2.27E-4	1.16E-4	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.46451	0.88;0.87	3.99	1.95	0.26073	.	0.382752	0.18951	N	0.126681	T	0.37320	0.0999	L	0.44542	1.39	0.27067	N	0.963421	D	0.65815	0.995	P	0.48454	0.578	T	0.19484	-1.0304	10	0.52906	T	0.07	-9.1593	6.5083	0.22208	0.0:0.7116:0.1841:0.1043	.	115	Q9NUR3	CT046_HUMAN	M	115	ENSP00000371318:V115M;ENSP00000400552:V115M	ENSP00000371318:V115M	V	-	1	0	C20orf46	1109920	0.278000	0.24230	0.920000	0.36463	0.946000	0.59487	1.281000	0.33214	0.406000	0.25560	0.563000	0.77884	GTG		0.637	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		13	438	0	0	0	1	0	13	438				
MYBPC3	4607	broad.mit.edu	37	11	47371447	47371447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47371447C>T	ENST00000545968.1	-	5	586	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V178M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	178	Ig-like C2-type 1.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGCCGGCCACGCGGGCTGAG	0.672																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(532-534)Gtg>Atg		myosin binding protein C, cardiac							25.0	31.0	29.0					11																	47371447		2071	4202	6273	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47371447C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.532G>A	11.37:g.47371447C>T	ENSP00000442795:p.Val178Met					MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M|MYBPC3_ENST00000545968.1_Missense_Mutation_p.V178M	p.V178M			Q14896	MYPC3_HUMAN		Lung(87;0.176)	5	586	-			178			Ig-like C2-type 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.532G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427436	0.83667	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.75154	-0.91;-0.91;-0.91	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88134	0.6355	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90470	0.4452	9	0.87932	D	0	.	18.2122	0.89874	0.0:1.0:0.0:0.0	.	178	Q14896	MYPC3_HUMAN	M	178	ENSP00000442795:V178M;ENSP00000382193:V178M;ENSP00000256993:V178M	ENSP00000256993:V178M	V	-	1	0	MYBPC3	47328023	1.000000	0.71417	0.827000	0.32855	0.625000	0.37756	4.934000	0.63491	2.385000	0.81259	0.462000	0.41574	GTG		0.672	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			11	57	0	0	0	1	0	11	57				
SWT1	54823	broad.mit.edu	37	1	185171911	185171911	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185171911C>A	ENST00000367500.4	+	11	1814	c.1649C>A	c.(1648-1650)cCt>cAt	p.P550H	SWT1_ENST00000367501.3_Missense_Mutation_p.P550H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	550										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCTTGTATTCCTAAGCAACAG	0.313																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1648-1650)cCt>cAt		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							86.0	87.0	87.0					1																	185171911		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185171911C>A	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1649C>A	1.37:g.185171911C>A	ENSP00000356470:p.Pro550His					SWT1_ENST00000367501.3_Missense_Mutation_p.P550H	p.P550H	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			11	1814	+			550					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1649C>A	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785887	0.31593	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.17370	2.28;2.28	5.49	5.49	0.81192	.	0.863528	0.10733	N	0.640423	T	0.11196	0.0273	N	0.08118	0	0.20307	N	0.999918	B	0.14438	0.01	B	0.06405	0.002	T	0.14420	-1.0473	10	0.59425	D	0.04	.	12.9453	0.58369	0.0:0.8373:0.1627:0.0	.	550	Q5T5J6	SWT1_HUMAN	H	550	ENSP00000356471:P550H;ENSP00000356470:P550H	ENSP00000356470:P550H	P	+	2	0	SWT1	183438534	1.000000	0.71417	0.920000	0.36463	0.707000	0.40811	2.423000	0.44705	2.736000	0.93811	0.655000	0.94253	CCT		0.313	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		66	302	1	0	5.96624e-29	1	6.96048e-29	66	302				
CNTNAP3	79937	broad.mit.edu	37	9	39140635	39140635	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39140635G>T	ENST00000297668.6	-	12	1830	c.1757C>A	c.(1756-1758)tCt>tAt	p.S586Y	CNTNAP3_ENST00000358144.2_Splice_Site_p.S498Y|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586Y|CNTNAP3_ENST00000377656.2_Splice_Site_p.S586Y|CNTNAP3_ENST00000323947.7_Splice_Site_p.A493D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	586	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTCGTAGAGAGCTGTAGGAGA	0.463																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.e12-1		contactin associated protein-like 3							20.0	24.0	23.0					9																	39140635		2180	4274	6454	SO:0001630	splice_region_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39140635G>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1757-1C>A	9.37:g.39140635G>T						CNTNAP3_ENST00000377656.2_Splice_Site_p.S586_splice|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586_splice|CNTNAP3_ENST00000358144.2_Splice_Site_p.S498_splice|CNTNAP3_ENST00000323947.7_Splice_Site_p.A493_splice	p.S586_splice	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	12	1830	-			586			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Splice_Site	SNP	ENST00000297668.6	37	c.1756_splice	CCDS6616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.48|18.48	3.633518|3.633518	0.67015|0.67015	.|.	.|.	ENSG00000106714|ENSG00000106714	ENST00000323947|ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T|T;T;T;T	0.79033|0.17054	-1.23|2.3;2.3;2.3;2.3	2.85|2.85	2.85|2.85	0.33270|0.33270	.|Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	.|.	.|.	.|.	.|.	T|T	0.45617|0.45617	0.1351|0.1351	M|M	0.90198|0.90198	3.095|3.095	0.30073|0.30073	N|N	0.809856|0.809856	D|D;D;P	0.61697|0.71674	0.99|0.989;0.998;0.604	P|P;D;B	0.60886|0.64144	0.88|0.856;0.922;0.317	T|T	0.52653|0.52653	-0.8547|-0.8547	9|9	0.66056|0.87932	D|D	0.02|0	.|.	12.7303|12.7303	0.57195|0.57195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	493|586;586;586	E2QRH2|Q9BZ76-2;A6NC89;Q9BZ76	.|.;.;CNTP3_HUMAN	D|Y	493|586;586;498;586	ENSP00000320728:A493D|ENSP00000297668:S586Y;ENSP00000366884:S586Y;ENSP00000350863:S498Y;ENSP00000366887:S586Y	ENSP00000320728:A493D|ENSP00000297668:S586Y	A|S	-|-	2|2	0|0	CNTNAP3|CNTNAP3	39130635|39130635	1.000000|1.000000	0.71417|0.71417	0.400000|0.400000	0.26346|0.26346	0.052000|0.052000	0.14988|0.14988	8.314000|8.314000	0.89980|0.89980	1.593000|1.593000	0.50029|0.50029	0.440000|0.440000	0.28878|0.28878	GCT|TCT		0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	Missense_Mutation	55	189	1	0	4.96213e-28	1	5.76155e-28	55	189				
BTBD8	284697	broad.mit.edu	37	1	92568203	92568203	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92568203G>A	ENST00000342818.3	+	3	757	c.521G>A	c.(520-522)aGa>aAa	p.R174K	BTBD8_ENST00000370382.3_Missense_Mutation_p.R174K|BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	174						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATCAGTGACAGAGATGATGAT	0.333																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(520-522)aGa>aAa		BTB (POZ) domain containing 8							71.0	69.0	70.0					1																	92568203		2203	4299	6502	SO:0001583	missense	284697					nucleus		g.chr1:92568203G>A	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.521G>A	1.37:g.92568203G>A	ENSP00000343686:p.Arg174Lys					BTBD8_ENST00000342818.3_Missense_Mutation_p.R174K|BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K	p.R174K			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	3	788	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	174					Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.521G>A	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	2.538	-0.306939	0.05458	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.62232	2.04;0.04;2.03	5.28	-6.7	0.01766	.	1.889290	0.02174	N	0.059959	T	0.08403	0.0209	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06807	-1.0806	10	0.02654	T	1	-16.235	2.599	0.04861	0.4836:0.2246:0.1779:0.114	.	174	Q5XKL5	BTBD8_HUMAN	K	174	ENSP00000359408:R174K;ENSP00000343686:R174K;ENSP00000443397:R174K	ENSP00000343686:R174K	R	+	2	0	BTBD8	92340791	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-0.200000	0.09478	-0.834000	0.04239	-0.282000	0.10007	AGA		0.333	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		56	214	0	0	0	1	0	56	214				
IQSEC1	9922	broad.mit.edu	37	3	12962091	12962091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12962091C>T	ENST00000273221.4	-	6	2117	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	634	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGCAGTAGCGCTGGCTGCG	0.632																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1900-1902)cGc>cAc		IQ motif and Sec7 domain 1							86.0	79.0	81.0					3																	12962091		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12962091C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1901G>A	3.37:g.12962091C>T	ENSP00000273221:p.Arg634His						p.R634H	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			6	2117	-			634			SEC7.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.1901G>A	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063487	0.93898	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.57907	0.37;0.37	4.59	4.59	0.56863	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	.	.	.	0.80722	D	1	P;D;P	0.89917	0.9;1.0;0.951	P;D;P	0.97110	0.765;1.0;0.818	T	0.78028	-0.2364	9	0.62326	D	0.03	.	17.3729	0.87383	0.0:1.0:0.0:0.0	.	620;620;634	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	634;620;620	ENSP00000273221:R634H;ENSP00000402299:R620H	ENSP00000273221:R634H	R	-	2	0	IQSEC1	12937091	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	7.721000	0.84768	2.104000	0.64026	0.561000	0.74099	CGC		0.632	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		75	381	0	0	0	1	0	75	381				
ZNF860	344787	broad.mit.edu	37	3	32030747	32030747	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32030747A>G	ENST00000360311.4	+	2	725	c.176A>G	c.(175-177)aAc>aGc	p.N59S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AACTACAGGAACCTGCATTCT	0.453																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(175-177)aAc>aGc		zinc finger protein 860							83.0	70.0	74.0					3																	32030747		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030747A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.176A>G	3.37:g.32030747A>G	ENSP00000373274:p.Asn59Ser						p.N59S	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	725	+			59			KRAB.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.176A>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690412	0.29962	.	.	ENSG00000197385	ENST00000360311	T	0.02525	4.26	0.14	0.14	0.14804	Krueppel-associated box (4);	.	.	.	.	T	0.09158	0.0226	M	0.75447	2.3	0.09310	N	1	P	0.51057	0.941	P	0.60415	0.874	T	0.16305	-1.0407	8	.	.	.	.	4.624	0.12469	0.9996:0.0:4.0E-4:0.0	.	59	A6NHJ4	ZN860_HUMAN	S	59	ENSP00000373274:N59S	.	N	+	2	0	ZNF860	32005751	0.000000	0.05858	0.046000	0.18839	0.046000	0.14306	-1.384000	0.02542	0.157000	0.19338	0.155000	0.16302	AAC		0.453	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			80	356	0	0	0	1	0	80	356				
ALDH9A1	223	broad.mit.edu	37	1	165634286	165634286	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165634286C>A	ENST00000354775.4	-	10	1735	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ALDH9A1_ENST00000538148.1_Silent_p.V383V|Y_RNA_ENST00000384263.1_RNA	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	453					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AGGGCAACTCCACTGGGCTGA	0.458																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1429-1431)gtG>gtT		aldehyde dehydrogenase 9 family, member A1	NADH(DB00157)						114.0	96.0	102.0					1																	165634286		2203	4300	6503	SO:0001819	synonymous_variant	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165634286C>A	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1431G>T	1.37:g.165634286C>A						ALDH9A1_ENST00000538148.1_Silent_p.V383V	p.V477V	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN			10	1735	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		453					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	c.1431G>T	CCDS1250.2																																																																																				0.458	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			42	270	1	0	3.43241e-23	1	3.89856e-23	42	270				
SOX5	6660	broad.mit.edu	37	12	23716316	23716316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23716316G>T	ENST00000451604.2	-	11	1465	c.1364C>A	c.(1363-1365)gCt>gAt	p.A455D	SOX5_ENST00000309359.1_Missense_Mutation_p.A442D|SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000546136.1_Missense_Mutation_p.A442D|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000381381.2_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	455					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTGGTGACAGCATCATGGTC	0.428																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1324-1326)gCt>gAt		SRY (sex determining region Y)-box 5							165.0	142.0	150.0					12																	23716316		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23716316G>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1364C>A	12.37:g.23716316G>T	ENSP00000398273:p.Ala455Asp					SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000451604.2_Missense_Mutation_p.A455D|SOX5_ENST00000309359.1_Missense_Mutation_p.A442D|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D	p.A442D			P35711	SOX5_HUMAN			10	1327	-			455					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1325C>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206963	0.79127	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.996;0.992;0.999	D;P;D	0.85130	0.931;0.856;0.997	T	0.74645	-0.3596	10	0.87932	D	0	.	15.1758	0.72910	0.0671:0.0:0.9328:0.0	.	420;455;69	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	D	442;442;455;407;420;69;445	ENSP00000437487:A442D;ENSP00000308927:A442D;ENSP00000398273:A455D;ENSP00000439832:A420D;ENSP00000379328:A69D;ENSP00000443520:A445D	ENSP00000308927:A442D	A	-	2	0	SOX5	23607583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.458000	0.97634	1.558000	0.49541	0.655000	0.94253	GCT		0.428	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		112	497	1	0	9.0003e-69	1	1.14156e-68	112	497				
C10orf2	56652	broad.mit.edu	37	10	102749183	102749183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102749183C>T	ENST00000311916.2	+	1	1401	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R406*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	406	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGGGACATCGAAAGGGCGA	0.527																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1216-1218)Cga>Tga		chromosome 10 open reading frame 2							65.0	68.0	67.0					10																	102749183		2203	4300	6503	SO:0001587	stop_gained	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749183C>T	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1216C>T	10.37:g.102749183C>T	ENSP00000309595:p.Arg406*					C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R406*	p.R406*	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	1401	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	406			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Nonsense_Mutation	SNP	ENST00000311916.2	37	c.1216C>T	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536445	0.85812	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2613	19.1729	0.93588	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000309595:R406X	R	+	1	2	C10orf2	102739173	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	4.853000	0.62911	2.873000	0.98535	0.563000	0.77884	CGA		0.527	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		73	323	0	0	0	1	0	73	323				
DOPEY1	23033	broad.mit.edu	37	6	83877656	83877656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83877656G>A	ENST00000349129.2	+	39	7428	c.7168G>A	c.(7168-7170)Gtg>Atg	p.V2390M	DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000512866.1_Intron|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2390					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATCTGCACCGTGCGCAGTAT	0.512																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(7168-7170)Gtg>Atg		dopey family member 1							63.0	56.0	58.0					6																	83877656		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83877656G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7168G>A	6.37:g.83877656G>A	ENSP00000195654:p.Val2390Met					DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|PGM3_ENST00000512866.1_Intron|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000484282.1_3'UTR	p.V2390M	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	39	7428	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2390					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.7168G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401973	0.25291	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.51574	0.7;1.68	5.76	4.88	0.63580	.	0.118362	0.56097	N	0.000021	T	0.17916	0.0430	N	0.24115	0.695	0.80722	D	1	B;B;B	0.15473	0.013;0.011;0.011	B;B;B	0.08055	0.003;0.003;0.003	T	0.07481	-1.0770	10	0.54805	T	0.06	.	9.5589	0.39357	0.1621:0.0:0.8379:0.0	.	2281;2381;2390	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	M	2390;2294;2294	ENSP00000195654:V2390M;ENSP00000237163:V2294M	ENSP00000237163:V2294M	V	+	1	0	DOPEY1	83934375	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	4.475000	0.60210	1.413000	0.46997	0.655000	0.94253	GTG		0.512	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		43	168	0	0	0	1	0	43	168				
ADH7	131	broad.mit.edu	37	4	100341725	100341725	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341725A>G	ENST00000209665.4	-	6	1066	c.826T>C	c.(826-828)Tac>Cac	p.Y276H	ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H|ADH7_ENST00000437033.2_Missense_Mutation_p.Y264H	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	276					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TCAAAGGTGTATCCCACGTTG	0.443																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(790-792)Tac>Cac		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						126.0	108.0	114.0					4																	100341725		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341725A>G	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.826T>C	4.37:g.100341725A>G	ENSP00000209665:p.Tyr276His					ADH7_ENST00000209665.4_Missense_Mutation_p.Y276H|ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H	p.Y264H			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	6	1293	-			276					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.790T>C	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112927	0.56398	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	3.5	2.25	0.28309	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.434279	0.25202	N	0.032361	T	0.30070	0.0753	M	0.72353	2.195	0.25964	N	0.982585	B	0.31193	0.312	P	0.47346	0.544	T	0.22730	-1.0208	10	0.51188	T	0.08	-26.601	8.9963	0.36055	0.9081:0.0:0.0918:0.0	.	276	P40394	ADH7_HUMAN	H	264;276;207;284	ENSP00000414254:Y264H;ENSP00000209665:Y276H;ENSP00000420613:Y207H;ENSP00000420269:Y284H	ENSP00000209665:Y276H	Y	-	1	0	ADH7	100560748	0.426000	0.25506	0.000000	0.03702	0.281000	0.26958	5.249000	0.65427	0.489000	0.27749	0.460000	0.39030	TAC		0.443	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		55	261	0	0	0	1	0	55	261				
SRGAP3	9901	broad.mit.edu	37	3	9032472	9032472	+	Silent	SNP	G	G	A	rs537681085	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9032472G>A	ENST00000383836.3	-	21	3037	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	SRGAP3_ENST00000360413.3_Silent_p.G846G	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	870					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGTGTGTGTCGCCCCCGCTTC	0.701			T	RAF1	pilocytic astrocytoma								G|||	4	0.000798722	0.003	0.0	5008	,	,		14100	0.0		0.0	False		,,,				2504	0.0					ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2608-2610)ggC>ggT		SLIT-ROBO Rho GTPase activating protein 3							10.0	13.0	12.0					3																	9032472		2183	4286	6469	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9032472G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2610C>T	3.37:g.9032472G>A						SRGAP3_ENST00000360413.3_Silent_p.G846G	p.G870G	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	21	3037	-			870					Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.2610C>T	CCDS2572.1																																																																																				0.701	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			15	85	0	0	0	1	0	15	85				
MGA	23269	broad.mit.edu	37	15	42057138	42057138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42057138C>T	ENST00000570161.1	+	22	7799	c.7799C>T	c.(7798-7800)cCg>cTg	p.P2600L	MGA_ENST00000566586.1_Missense_Mutation_p.P2391L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000219905.7_Missense_Mutation_p.P2600L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGATGACTCCGCAAGGGCAA	0.443																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7798-7800)cCg>cTg		MGA, MAX dimerization protein							116.0	119.0	118.0					15																	42057138		2019	4187	6206	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42057138C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7799C>T	15.37:g.42057138C>T	ENSP00000457035:p.Pro2600Leu					MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000570161.1_Missense_Mutation_p.P2600L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000566586.1_Missense_Mutation_p.P2391L	p.P2600L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	23	7980	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2561					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7799C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835652	0.91117	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86956	-2.16;-2.14;-2.19	5.89	5.89	0.94794	.	0.000000	0.50627	D	0.000118	D	0.89448	0.6718	N	0.24115	0.695	0.46678	D	0.999159	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90607	0.4549	10	0.87932	D	0	.	17.4121	0.87488	0.0:1.0:0.0:0.0	.	2391;2600	F5H7K2;E7ENI0	.;.	L	2600;2561;2391	ENSP00000219905:P2600L;ENSP00000374586:P2561L;ENSP00000442467:P2391L	ENSP00000219905:P2600L	P	+	2	0	MGA	39844430	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	4.576000	0.60915	2.797000	0.96272	0.563000	0.77884	CCG		0.443	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		49	488	0	0	0	1	0	49	488				
WDR5	11091	broad.mit.edu	37	9	137019649	137019649	+	Silent	SNP	C	C	T	rs140708390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137019649C>T	ENST00000358625.3	+	10	864	c.693C>T	c.(691-693)gcC>gcT	p.A231A	WDR5_ENST00000425041.1_Silent_p.A231A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	231					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACATCCTGGCCGCCACGCTGG	0.617													C|||	5	0.000998403	0.0015	0.0029	5008	,	,		16863	0.0		0.001	False		,,,				2504	0.0					ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(691-693)gcC>gcT		WD repeat domain 5		C	,	18,4388	26.2+/-53.5	0,18,2185	154.0	141.0	146.0		693,693	-8.0	0.1	9	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	WDR5	NM_017588.2,NM_052821.3	,	0,20,6483	TT,TC,CC		0.0233,0.4085,0.1538	,	231/335,231/335	137019649	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137019649C>T	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.693C>T	9.37:g.137019649C>T						WDR5_ENST00000425041.1_Silent_p.A231A	p.A231A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	10	864	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	231					Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	ENST00000358625.3	37	c.693C>T	CCDS6981.1																																																																																				0.617	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		195	887	0	0	0	1	0	195	887				
UNC5CL	222643	broad.mit.edu	37	6	40996163	40996163	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40996163C>A	ENST00000373164.1	-	8	1566	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	UNC5CL_ENST00000244565.3_Missense_Mutation_p.E502D|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	502					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCCCCCGCGCTCGGGGCCTG	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1504-1506)gaG>gaT		unc-5 homolog C (C. elegans)-like							12.0	13.0	13.0					6																	40996163		2176	4255	6431	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996163C>A	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1506G>T	6.37:g.40996163C>A	ENSP00000362258:p.Glu502Asp		OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897	UNC5CL_ENST00000373164.1_Missense_Mutation_p.E502D|UNC5CL_ENST00000470102.1_5'UTR	p.E502D	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			9	1594	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		502					Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1506G>T	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.582907	0.13749	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14516	2.5;2.5	4.32	-1.68	0.08212	.	4.313200	0.00744	N	0.001035	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.46456	-0.9190	10	0.13853	T	0.58	0.6004	16.5715	0.84613	0.0:0.7392:0.2608:0.0	.	502	Q8IV45	UN5CL_HUMAN	D	502	ENSP00000244565:E502D;ENSP00000362258:E502D	ENSP00000244565:E502D	E	-	3	2	UNC5CL	41104141	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-0.351000	0.08249	-0.344000	0.07964	GAG		0.687	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		29	104	1	0	1.17739e-12	1	1.26592e-12	29	104				
FTH1P3	2498	broad.mit.edu	37	5	17354246	17354246	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17354246G>A	ENST00000511821.1	+	0	105				FTH1P10_ENST00000401830.3_RNA																							CATTCAGCCCGCTCTCCCAGT	0.473																																						ENST00000511821.1																			0																																																			0							g.chr5:17354246G>A																													5.37:g.17354246G>A						FTH1P10_ENST00000401830.3_RNA								0	105	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.473	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			37	317	0	0	0	1	0	37	317				
DSG4	147409	broad.mit.edu	37	18	28983528	28983528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28983528C>T	ENST00000308128.4	+	11	1702	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P523S	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	523					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTATGGGTCTCCGTTTACTTT	0.383																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1567-1569)Ccg>Tcg		desmoglein 4							146.0	135.0	139.0					18																	28983528		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28983528C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1567C>T	18.37:g.28983528C>T	ENSP00000311859:p.Pro523Ser					RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P523S	p.P523S	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1596	+			523					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1567C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477402	0.63849	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.62788	0.0;0.0	6.01	6.01	0.97437	Cadherin-like (1);	0.000000	0.34460	N	0.003957	D	0.82774	0.5110	M	0.85859	2.78	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.948	D	0.84109	0.0400	10	0.87932	D	0	.	20.1245	0.97974	0.0:1.0:0.0:0.0	.	523;523	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	523	ENSP00000311859:P523S;ENSP00000352785:P523S	ENSP00000311859:P523S	P	+	1	0	DSG4	27237526	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.579000	0.67457	2.850000	0.98022	0.655000	0.94253	CCG		0.383	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		41	235	0	0	0	1	0	41	235				
EIF4G1	1981	broad.mit.edu	37	3	184046477	184046477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184046477C>A	ENST00000346169.2	+	27	4283	c.4012C>A	c.(4012-4014)Ctc>Atc	p.L1338I	EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1339I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4015-4017)Ctc>Atc		eukaryotic translation initiation factor 4 gamma, 1							139.0	138.0	138.0					3																	184046477		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046477C>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4012C>A	3.37:g.184046477C>A	ENSP00000316879:p.Leu1338Ile					EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1338I	p.L1339I	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4429	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1338			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4015C>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196356	0.94960	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.69	5.69	0.88448	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.064556	0.64402	D	0.000005	T	0.68284	0.2984	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66416	-0.5929	10	0.38643	T	0.18	-12.891	19.812	0.96551	0.0:1.0:0.0:0.0	.	1345;1339;1338	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	I	1338;1298;1251;1345;1174;1345;1252;1339;1338;1345;1299;1175;1143;1142	ENSP00000316879:L1338I;ENSP00000391935:L1298I;ENSP00000376320:L1251I;ENSP00000371767:L1345I;ENSP00000317600:L1174I;ENSP00000338020:L1345I;ENSP00000407682:L1252I;ENSP00000343450:L1339I;ENSP00000323737:L1338I;ENSP00000416255:L1345I;ENSP00000395974:L1299I;ENSP00000399858:L1175I;ENSP00000411826:L1143I;ENSP00000404754:L1142I	ENSP00000323737:L1338I	L	+	1	0	EIF4G1	185529171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.013000	0.49582	2.685000	0.91497	0.655000	0.94253	CTC		0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		134	562	1	0	6.42063e-57	1	8.038e-57	134	562				
PGR	5241	broad.mit.edu	37	11	100996859	100996859	+	Missense_Mutation	SNP	T	T	G	rs540664133		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100996859T>G	ENST00000325455.5	-	2	3121	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	PGR_ENST00000534013.1_5'UTR|PGR_ENST00000263463.5_Missense_Mutation_p.Q556H	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	556	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CGAAGCTGTATTGTGGGCTCT	0.418																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1666-1668)caA>caC		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						72.0	63.0	66.0					11																	100996859		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100996859T>G	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1668A>C	11.37:g.100996859T>G	ENSP00000325120:p.Gln556His					PGR_ENST00000263463.5_Missense_Mutation_p.Q556H|PGR_ENST00000534013.1_5'UTR	p.Q556H	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	2	3121	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	556			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1668A>C	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917796	0.33815	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09817	2.94;2.94	5.55	2.2	0.27929	.	0.108809	0.41001	D	0.000978	T	0.25606	0.0623	M	0.64404	1.975	0.30183	N	0.800201	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.958	T	0.03374	-1.1043	10	0.62326	D	0.03	.	9.024	0.36218	0.0:0.6891:0.0:0.3109	.	556;556	Q8TDS3;P06401	.;PRGR_HUMAN	H	556	ENSP00000325120:Q556H;ENSP00000263463:Q556H	ENSP00000263463:Q556H	Q	-	3	2	PGR	100502069	0.794000	0.28838	1.000000	0.80357	0.042000	0.13812	0.195000	0.17155	0.652000	0.30806	-0.248000	0.11899	CAA		0.418	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			42	129	0	0	0	1	0	42	129				
VWA3B	200403	broad.mit.edu	37	2	98846533	98846533	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98846533C>A	ENST00000477737.1	+	16	2375	c.2171C>A	c.(2170-2172)tCt>tAt	p.S724Y		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	724										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAATCTGTTCTATGATTTCA	0.373																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2170-2172)tCt>tAt		von Willebrand factor A domain containing 3B							98.0	89.0	92.0					2																	98846533		1821	4080	5901	SO:0001583	missense	200403							g.chr2:98846533C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2171C>A	2.37:g.98846533C>A	ENSP00000417955:p.Ser724Tyr						p.S724Y	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			16	2375	+			724					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2171C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.721|1.721	-0.496703|-0.496703	0.04291|0.04291	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.06687	.|3.27	4.29|4.29	3.33|3.33	0.38152|0.38152	.|.	.|0.572159	.|0.14676	.|N	.|0.305036	T|T	0.19846|0.19846	0.0477|0.0477	L|L	0.51422|0.51422	1.61|1.61	0.19575|0.19575	N|N	0.999964|0.999964	.|D;P;P;D	.|0.89917	.|0.983;0.947;0.799;1.0	.|P;P;B;D	.|0.74023	.|0.804;0.556;0.366;0.982	T|T	0.01702|0.01702	-1.1292|-1.1292	5|10	.|0.87932	.|D	.|0	.|.	8.8288|8.8288	0.35072|0.35072	0.2239:0.7761:0.0:0.0|0.2239:0.7761:0.0:0.0	.|.	.|116;724;724;724	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	L|Y	134|724	.|ENSP00000417955:S724Y	.|ENSP00000417955:S724Y	F|S	+|+	3|2	2|0	VWA3B|VWA3B	98212965|98212965	0.241000|0.241000	0.23857|0.23857	0.170000|0.170000	0.22879|0.22879	0.988000|0.988000	0.76386|0.76386	1.781000|1.781000	0.38644|0.38644	2.384000|2.384000	0.81235|0.81235	0.491000|0.491000	0.48974|0.48974	TTC|TCT		0.373	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		9	381	1	0	7.48243e-07	1	7.73841e-07	9	381				
SIGLEC14	100049587	broad.mit.edu	37	19	52149521	52149521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52149521A>G	ENST00000360844.6	-	2	451	c.410T>C	c.(409-411)tTg>tCg	p.L137S	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.L137S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	137					cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTCACCTCCAAGTTCAGCTT	0.552																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(409-411)tTg>tCg		sialic acid binding Ig-like lectin 5							77.0	96.0	90.0					19																	52149521		1832	4002	5834	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52149521A>G	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.410T>C	19.37:g.52149521A>G	ENSP00000354090:p.Leu137Ser					SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S|SIGLEC5_ENST00000429354.3_Intron|SIGLEC14_ENST00000360844.6_Missense_Mutation_p.L137S	p.L137S			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	2	548	-		all_neural(266;0.0726)	137					Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.410T>C	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.352761	0.41700	.	.	ENSG00000105501;ENSG00000254415	ENST00000222107;ENST00000360844	T;T	0.68479	-0.33;-0.33	3.09	3.09	0.35607	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.234553	0.21568	N	0.072458	T	0.80954	0.4723	M	0.86953	2.85	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69624	-0.5095	10	0.87932	D	0	.	7.8471	0.29431	1.0:0.0:0.0:0.0	.	137	Q08ET2	SIG14_HUMAN	S	137	ENSP00000222107:L137S;ENSP00000354090:L137S	ENSP00000354090:L137S	L	-	2	0	SIGLEC5;SIGLEC14	56841333	0.000000	0.05858	0.136000	0.22124	0.031000	0.12232	0.278000	0.18753	1.429000	0.47314	0.416000	0.27883	TTG		0.552	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		29	638	0	0	0	1	0	29	638				
COL21A1	81578	broad.mit.edu	37	6	55922469	55922469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55922469C>A	ENST00000244728.5	-	30	3257	c.2860G>T	c.(2860-2862)Gga>Tga	p.G954*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	954					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TAGTTTGGTCCTTTTCTGAAC	0.473																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(2860-2862)Gga>Tga		collagen, type XXI, alpha 1							86.0	81.0	82.0					6																	55922469		1910	4132	6042	SO:0001587	stop_gained	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55922469C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2860G>T	6.37:g.55922469C>A	ENSP00000244728:p.Gly954*					COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*|COL21A1_ENST00000467045.1_5'UTR	p.G954*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		30	3257	-	Lung NSC(77;0.0483)		954					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	37	c.2860G>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.607457	0.98387	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.44055	D	0.996794	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8313	0.88683	0.0:1.0:0.0:0.0	.	.	.	.	X	954;951;954;951;320	.	ENSP00000244728:G954X	G	-	1	0	COL21A1	56030428	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.794000	0.75135	2.275000	0.75901	0.655000	0.94253	GGA		0.473	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			27	107	1	0	1.50538e-07	1	1.5642e-07	27	107				
ZBTB44	29068	broad.mit.edu	37	11	130108397	130108397	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130108397G>T	ENST00000357899.4	-	4	1481	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	ZBTB44_ENST00000530205.1_Silent_p.T403T|ZBTB44_ENST00000525842.1_Silent_p.T403T|ZBTB44_ENST00000397753.1_Silent_p.T403T			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GCACCCCGCAGGTTGGACACT	0.498																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1207-1209)acC>acA		zinc finger and BTB domain containing 44							80.0	77.0	78.0					11																	130108397		1966	4155	6121	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130108397G>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1209C>A	11.37:g.130108397G>T						ZBTB44_ENST00000357899.4_Silent_p.T403T|ZBTB44_ENST00000530205.1_Silent_p.T403T|ZBTB44_ENST00000397753.1_Silent_p.T403T	p.T403T	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	4	1576	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	403					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.1209C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.01|10.01	1.233430|1.233430	0.22626|0.22626	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982	.|.	.|.	.|.	6.16|6.16	1.76|1.76	0.24704|0.24704	.|.	.|.	.|.	.|.	.|.	T|T	0.43787|0.43787	0.1263|0.1263	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20974|0.20974	-1.0259|-1.0259	4|4	.|.	.|.	.|.	.|.	2.5208|2.5208	0.04679|0.04679	0.2089:0.271:0.3867:0.1334|0.2089:0.271:0.3867:0.1334	.|.	.|.	.|.	.|.	M|H	382|257	.|.	.|.	L|P	-|-	1|2	2|0	ZBTB44|ZBTB44	129613607|129613607	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	0.461000|0.461000	0.21940|0.21940	0.083000|0.083000	0.17047|0.17047	0.650000|0.650000	0.86243|0.86243	CTG|CCT		0.498	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		13	57	1	0	0.000151284	1	0.000153739	13	57				
DSG2	1829	broad.mit.edu	37	18	29115361	29115361	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29115361T>C	ENST00000261590.8	+	10	1618	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	470	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTAAAGATTGTGGCCATATCA	0.299																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1408-1410)gTg>gCg		desmoglein 2							43.0	41.0	42.0					18																	29115361		1806	4072	5878	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29115361T>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1409T>C	18.37:g.29115361T>C	ENSP00000261590:p.Val470Ala						p.V470A	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		10	1618	+			470			Cadherin 4.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1409T>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706790	0.30232	.	.	ENSG00000046604	ENST00000261590	T	0.61274	0.12	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	1.741940	0.02868	N	0.131227	T	0.64405	0.2595	L	0.53249	1.67	0.80722	D	1	B	0.26975	0.165	B	0.31442	0.13	T	0.36696	-0.9737	10	0.62326	D	0.03	.	15.8834	0.79222	0.0:0.0:0.0:1.0	.	470	Q14126	DSG2_HUMAN	A	470	ENSP00000261590:V470A	ENSP00000261590:V470A	V	+	2	0	DSG2	27369359	1.000000	0.71417	0.037000	0.18230	0.151000	0.21798	6.445000	0.73456	2.158000	0.67659	0.379000	0.24179	GTG		0.299	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		26	99	0	0	0	1	0	26	99				
MIR551B	693136	broad.mit.edu	37	3	168269667	168269667	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168269667T>G	ENST00000384984.1	+	0	26					NR_030294.1				microRNA 551b																		GCCCATGAAATCAAGCGTGGG	0.463																																						ENST00000384984.1																			0																				103.0	90.0	94.0					3																	168269667		1568	3582	5150			0							g.chr3:168269667T>G			3q26.2	2011-09-12		2008-12-18	ENSG00000207717	ENSG00000207717		"""ncRNAs / Micro RNAs"""	32807	non-coding RNA	RNA, micro				MIRN551B			Standard	NR_030294		Approved	hsa-mir-551b	uc021xha.1				3.37:g.168269667T>G								NR_030294.1						0	26	+									RNA	SNP	ENST00000384984.1	37																																																																																						0.463	MIR551B-201	KNOWN	basic	miRNA	miRNA		NR_030294		34	205	0	0	0	1	0	34	205				
ZNF641	121274	broad.mit.edu	37	12	48736841	48736841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48736841C>T	ENST00000544117.2	-	6	1940	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q|ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q			Q96N77	ZN641_HUMAN	zinc finger protein 641	411					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GTGATGTTTTCGGCCAAAGCT	0.562																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(1231-1233)cGa>cAa		zinc finger protein 641							91.0	86.0	87.0					12																	48736841		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48736841C>T	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1232G>A	12.37:g.48736841C>T	ENSP00000437832:p.Arg411Gln					ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q|ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q	p.R411Q			Q96N77	ZN641_HUMAN			6	1940	-			411					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.1232G>A	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859147	0.71834	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.66	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.095436	0.47455	D	0.000237	T	0.17492	0.0420	L	0.41415	1.275	0.32144	N	0.585131	P;P	0.44478	0.836;0.496	B;B	0.29716	0.106;0.041	T	0.13229	-1.0517	10	0.07482	T	0.82	.	13.1879	0.59693	0.0:0.918:0.0:0.082	.	388;411	B4DNU5;Q96N77	.;ZN641_HUMAN	Q	411;411;388;397	ENSP00000301042:R411Q;ENSP00000437832:R411Q;ENSP00000394627:R388Q;ENSP00000449974:R397Q	ENSP00000301042:R411Q	R	-	2	0	ZNF641	47023108	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.443000	0.06862	2.824000	0.97209	0.655000	0.94253	CGA		0.562	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		103	486	0	0	0	1	0	103	486				
PLXDC1	57125	broad.mit.edu	37	17	37262146	37262146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37262146C>T	ENST00000315392.4	-	7	983	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	258					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAAGGCATCCGATAGGCCG	0.587																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(772-774)Gat>Aat		plexin domain containing 1							136.0	134.0	135.0					17																	37262146		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37262146C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.772G>A	17.37:g.37262146C>T	ENSP00000323927:p.Asp258Asn					PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N	p.D258N	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			7	983	-			258					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.772G>A	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604905	0.46423	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.23	5.23	0.72850	.	0.114353	0.64402	D	0.000019	D	0.88640	0.6491	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90222	0.4272	10	0.87932	D	0	-21.06	15.5258	0.75905	0.0:1.0:0.0:0.0	.	258	Q8IUK5	PXDC1_HUMAN	N	258;185;185;218;258;185	ENSP00000323927:D258N;ENSP00000441881:D185N;ENSP00000409687:D218N;ENSP00000377851:D258N;ENSP00000393227:D185N	ENSP00000323927:D258N	D	-	1	0	PLXDC1	34515672	1.000000	0.71417	0.420000	0.26596	0.590000	0.36582	7.079000	0.76829	2.440000	0.82611	0.561000	0.74099	GAT		0.587	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		152	620	0	0	0	1	0	152	620				
SALL2	6297	broad.mit.edu	37	14	21991201	21991201	+	Silent	SNP	G	G	A	rs199822625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21991201G>A	ENST00000327430.3	-	2	2955	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	SALL2_ENST00000450879.2_Silent_p.S750S|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	887					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGGTCACGCTGGTGGCTT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19198	0.001		0.0	False		,,,				2504	0.0					ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2659-2661)agC>agT		spalt-like transcription factor 2							63.0	58.0	60.0					14																	21991201		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991201G>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2661C>T	14.37:g.21991201G>A						SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.S750S|SALL2_ENST00000538754.1_Intron	p.S887S	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2955	-	all_cancers(95;0.000662)		887					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.2661C>T	CCDS32045.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.028	-1.352014	0.01256	.	.	ENSG00000165821	ENST00000546363	.	.	.	4.79	2.79	0.32731	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.23254	N	0.998031	.	.	.	.	.	.	T	0.16778	-1.0391	4	.	.	.	-14.6793	5.2257	0.15393	0.1157:0.2131:0.6712:0.0	.	.	.	.	V	746	.	.	A	-	2	0	SALL2	21061041	0.007000	0.16637	0.593000	0.28771	0.007000	0.05969	-0.145000	0.10265	1.232000	0.43678	-0.257000	0.10917	GCG		0.592	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		67	223	0	0	0	1	0	67	223				
OR5D18	219438	broad.mit.edu	37	11	55587163	55587163	+	Missense_Mutation	SNP	G	G	A	rs547181833		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587163G>A	ENST00000333976.4	+	1	78	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGCTTCTCAGATTACCCAGA	0.428																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(58-60)Gat>Aat		olfactory receptor, family 5, subfamily D, member 18							117.0	110.0	112.0					11																	55587163		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587163G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.58G>A	11.37:g.55587163G>A	ENSP00000335025:p.Asp20Asn						p.D20N	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	78	+		all_epithelial(135;0.208)	20					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.58G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228406	0.58777	.	.	ENSG00000186119	ENST00000333976	T	0.00433	7.43	5.18	3.3	0.37823	.	0.390655	0.18927	N	0.127316	T	0.00328	0.0010	L	0.29908	0.895	0.29344	N	0.865858	B	0.10296	0.003	B	0.24394	0.053	T	0.21861	-1.0233	10	0.42905	T	0.14	-14.4095	10.7949	0.46455	0.1567:0.0:0.8433:0.0	.	20	Q8NGL1	OR5DI_HUMAN	N	20	ENSP00000335025:D20N	ENSP00000335025:D20N	D	+	1	0	OR5D18	55343739	0.003000	0.15002	0.987000	0.45799	0.995000	0.86356	0.869000	0.27996	0.722000	0.32252	0.632000	0.83419	GAT		0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		89	279	0	0	0	1	0	89	279				
DNAH11	8701	broad.mit.edu	37	7	21630818	21630818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21630818G>A	ENST00000409508.3	+	14	2321	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D764N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	764	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAAATCTTGACCTTCTTGT	0.383									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2290-2292)Gac>Aac		dynein, axonemal, heavy chain 11							34.0	35.0	34.0					7																	21630818		1829	4081	5910	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21630818G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2290G>A	7.37:g.21630818G>A	ENSP00000475939:p.Asp764Asn					DNAH11_ENST00000409508.3_Missense_Mutation_p.D764N	p.D764N			Q96DT5	DYH11_HUMAN			14	2321	+			764			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2290G>A		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034516	0.35893	.	.	ENSG00000105877	ENST00000328843	T	0.54479	0.57	5.57	5.57	0.84162	Dynein heavy chain, domain-1 (1);	0.949886	0.08876	N	0.880782	T	0.43144	0.1234	.	.	.	0.25084	N	0.990906	B	0.10296	0.003	B	0.08055	0.003	T	0.19386	-1.0307	9	0.19147	T	0.46	.	18.3291	0.90262	0.0:0.0:1.0:0.0	.	764	Q96DT5	DYH11_HUMAN	N	764	ENSP00000330671:D764N	ENSP00000330671:D764N	D	+	1	0	DNAH11	21597343	1.000000	0.71417	0.881000	0.34555	0.956000	0.61745	4.301000	0.59086	2.618000	0.88619	0.561000	0.74099	GAC		0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		34	177	0	0	0	1	0	34	177				
C3orf58	205428	broad.mit.edu	37	3	143704586	143704586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704586G>A	ENST00000315691.3	+	2	1394	c.859G>A	c.(859-861)Gac>Aac	p.D287N	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N|C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	287					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTCCTGGACGTCAGCTT	0.403																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(859-861)Gac>Aac		chromosome 3 open reading frame 58							167.0	151.0	156.0					3																	143704586		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143704586G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.859G>A	3.37:g.143704586G>A	ENSP00000320081:p.Asp287Asn					C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N|C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N	p.D287N	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			2	1394	+			287					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.859G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281599	0.95489	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.55052	0.54	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.981	T	0.78130	-0.2324	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	78;287	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	N	287;78;93;49	ENSP00000320081:D287N	ENSP00000320081:D287N	D	+	1	0	C3orf58	145187276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GAC		0.403	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		82	818	0	0	0	1	0	82	818				
H2BFM	286436	broad.mit.edu	37	X	103295409	103295409	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103295409C>T	ENST00000355016.3	+	2	471	c.443C>T	c.(442-444)gCg>gTg	p.A148V	H2BFM_ENST00000243297.5_Missense_Mutation_p.A251V	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	148						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						tcattatgtgcgatatggcaa	0.378																																						ENST00000243297.5																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(751-753)gCg>gTg		H2B histone family, member M							330.0	225.0	257.0					X																	103295409		692	1591	2283	SO:0001583	missense	286436							g.chrX:103295409C>T	AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.443C>T	X.37:g.103295409C>T	ENSP00000347119:p.Ala148Val					H2BFM_ENST00000355016.3_Missense_Mutation_p.A148V	p.A251V							4	752	+								A6NP82	Missense_Mutation	SNP	ENST00000355016.3	37	c.752C>T	CCDS55468.1	.	.	.	.	.	.	.	.	.	.	.	5.282	0.237410	0.10023	.	.	ENSG00000101812	ENST00000243297;ENST00000355016;ENST00000417637	T;T	0.22539	2.03;1.95	1.69	-3.17	0.05202	Histone-fold (1);	32.229500	0.00166	N	0.000004	T	0.20659	0.0497	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	P	0.54629	0.757	T	0.12268	-1.0554	10	0.66056	D	0.02	.	2.6036	0.04872	0.2528:0.447:0.0:0.3002	.	251	P0C1H6	H2BFM_HUMAN	V	251;148;46	ENSP00000243297:A251V;ENSP00000347119:A148V	ENSP00000243297:A251V	A	+	2	0	H2BFM	103182065	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.243000	0.08915	-0.893000	0.03930	-0.444000	0.05651	GCG		0.378	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057758.2	XM_210048		26	69	0	0	0	1	0	26	69				
PRR12	57479	broad.mit.edu	37	19	50099477	50099477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50099477G>T	ENST00000418929.2	+	4	1897	c.1885G>T	c.(1885-1887)Ggt>Tgt	p.G629C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCGGGCCCAGGTGGGCCTCC	0.682																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1885-1887)Ggt>Tgt		proline rich 12							14.0	20.0	18.0					19																	50099477		1966	4143	6109	SO:0001583	missense	57479						DNA binding	g.chr19:50099477G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1885G>T	19.37:g.50099477G>T	ENSP00000394510:p.Gly629Cys						p.G629C	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1897	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	393			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1885G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	3.307	-0.141698	0.06669	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.9	1.72	0.24424	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.50490	0.642	T	0.28170	-1.0052	7	0.66056	D	0.02	.	7.675	0.28480	0.2088:0.0:0.7912:0.0	.	629	Q9ULL5-3	.	C	629	.	ENSP00000394510:G629C	G	+	1	0	PRR12	54791289	0.095000	0.21747	0.096000	0.21009	0.741000	0.42261	0.801000	0.27055	0.439000	0.26476	0.289000	0.19496	GGT		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		33	163	1	0	2.49534e-26	1	2.87403e-26	33	163				
ENTPD8	377841	broad.mit.edu	37	9	140330977	140330977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140330977A>G	ENST00000472938.1	-	5	798	c.782T>C	c.(781-783)gTa>gCa	p.V261A	ENTPD8_ENST00000344119.2_Missense_Mutation_p.V261A|ENTPD8_ENST00000371506.2_Missense_Mutation_p.V261A			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	261					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCTGACCTGTACCAGCCCCAC	0.662																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(781-783)gTa>gCa		ectonucleoside triphosphate diphosphohydrolase 8							23.0	23.0	23.0					9																	140330977		2194	4294	6488	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140330977A>G	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.782T>C	9.37:g.140330977A>G	ENSP00000420531:p.Val261Ala					ENTPD8_ENST00000472938.1_Missense_Mutation_p.V261A|ENTPD8_ENST00000344119.2_Missense_Mutation_p.V261A	p.V261A	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	6	965	-	all_cancers(76;0.0926)		261					A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.782T>C	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353960	0.24512	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12984	2.63;2.63;2.63	3.99	-2.05	0.07321	.	0.621973	0.13266	N	0.400894	T	0.09069	0.0224	L	0.50847	1.595	0.22639	N	0.998904	B;B	0.14012	0.005;0.009	B;B	0.17979	0.013;0.02	T	0.36962	-0.9726	10	0.21014	T	0.42	8.9172	1.613	0.02698	0.4808:0.1314:0.2591:0.1287	.	261;261	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	A	261	ENSP00000344089:V261A;ENSP00000360561:V261A;ENSP00000420531:V261A	ENSP00000344089:V261A	V	-	2	0	ENTPD8	139450798	0.000000	0.05858	0.825000	0.32803	0.036000	0.12997	-0.289000	0.08365	-0.149000	0.11215	0.379000	0.24179	GTA		0.662	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		10	40	0	0	0	1	0	10	40				
ACSM5	54988	broad.mit.edu	37	16	20430652	20430652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20430652C>T	ENST00000331849.4	+	4	665	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	173					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACTCCCTAGCTCCAAGGGTG	0.582																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(517-519)gCt>gTt		acyl-CoA synthetase medium-chain family member 5							88.0	73.0	78.0					16																	20430652		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20430652C>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.518C>T	16.37:g.20430652C>T	ENSP00000327916:p.Ala173Val					ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	p.A173V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			4	665	+			173					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.518C>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946946	0.53186	.	.	ENSG00000183549	ENST00000331849	T	0.50001	0.76	4.65	3.7	0.42460	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000011	T	0.44329	0.1288	L	0.39147	1.195	0.40815	D	0.983451	P	0.45396	0.857	P	0.48400	0.576	T	0.37820	-0.9689	10	0.42905	T	0.14	-11.2626	9.1503	0.36959	0.0:0.8309:0.0:0.1691	.	173	Q6NUN0	ACSM5_HUMAN	V	173	ENSP00000327916:A173V	ENSP00000327916:A173V	A	+	2	0	ACSM5	20338153	0.994000	0.37717	0.897000	0.35233	0.471000	0.32888	3.242000	0.51384	1.303000	0.44873	0.650000	0.86243	GCT		0.582	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		63	227	0	0	0	1	0	63	227				
DOK4	55715	broad.mit.edu	37	16	57509522	57509522	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57509522A>C	ENST00000340099.4	-	4	556	c.185T>G	c.(184-186)aTc>aGc	p.I62S	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000566936.1_Missense_Mutation_p.I62S|DOK4_ENST00000569548.1_Missense_Mutation_p.I62S	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	62	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GACGTTGCTGATCTCAGTCAC	0.577																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.(184-186)aTc>aGc		docking protein 4							70.0	57.0	61.0					16																	57509522		2198	4300	6498	SO:0001583	missense	0						insulin receptor binding	g.chr16:57509522A>C	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.185T>G	16.37:g.57509522A>C	ENSP00000344277:p.Ile62Ser					DOK4_ENST00000569548.1_Missense_Mutation_p.I62S|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.I62S	p.I62S			Q8TEW6	DOK4_HUMAN			3	482	-			62			PH.		O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	c.185T>G	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726227	0.89298	.	.	ENSG00000125170	ENST00000340099	T	0.73047	-0.71	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	L	0.51422	1.61	0.58432	D	0.999998	D;D	0.76494	0.991;0.999	D;P	0.62955	0.909;0.869	T	0.80151	-0.1502	10	0.59425	D	0.04	-0.1115	14.4951	0.67680	1.0:0.0:0.0:0.0	.	62;62	Q8TEW6;B2RD67	DOK4_HUMAN;.	S	62	ENSP00000344277:I62S	ENSP00000344277:I62S	I	-	2	0	DOK4	56067023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.236000	0.78154	2.103000	0.63969	0.528000	0.53228	ATC		0.577	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			17	58	0	0	0	1	0	17	58				
PVRL2	5819	broad.mit.edu	37	19	45391366	45391366	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45391366G>T	ENST00000252483.5	+	9	1347		c.e9-1		CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCTACCTCCAGGAAATGCCTC	0.572																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.e9-1		poliovirus receptor-related 2 (herpesvirus entry mediator B)							47.0	49.0	48.0					19																	45391366		2049	4190	6239	SO:0001630	splice_region_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45391366G>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1348-1G>T	19.37:g.45391366G>T						CTB-129P6.4_ENST00000585408.1_RNA		NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	9	1347	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)						A8K5L5|O75455|Q6IBI6|Q96J29	Splice_Site	SNP	ENST00000252483.5	37		CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268218	0.59540	.	.	ENSG00000130202	ENST00000252483	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5417	0.61679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PVRL2	50083206	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.858000	0.62947	2.659000	0.90383	0.561000	0.74099	.		0.572	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	Intron	69	284	1	0	3.13765e-25	1	3.59736e-25	69	284				
HIST1H1B	3009	broad.mit.edu	37	6	27835000	27835000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27835000C>T	ENST00000331442.3	-	1	359	c.308G>A	c.(307-309)gGt>gAt	p.G103D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	103	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCAGAAGCACCAGTGCCCTT	0.607																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(307-309)gGt>gAt		histone cluster 1, H1b							120.0	133.0	128.0					6																	27835000		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835000C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.308G>A	6.37:g.27835000C>T	ENSP00000330074:p.Gly103Asp						p.G103D	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	359	-			103			H15.		Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.308G>A	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759127	0.89843	.	.	ENSG00000184357	ENST00000331442	T	0.74106	-0.81	5.3	5.3	0.74995	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94386	0.7609	10	0.87932	D	0	-16.8992	18.3308	0.90268	0.0:1.0:0.0:0.0	.	103	P16401	H15_HUMAN	D	103	ENSP00000330074:G103D	ENSP00000330074:G103D	G	-	2	0	HIST1H1B	27942979	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	4.681000	0.61663	2.648000	0.89879	0.563000	0.77884	GGT		0.607	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		185	951	0	0	0	1	0	185	951				
DOCK2	1794	broad.mit.edu	37	5	169412848	169412848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169412848C>T	ENST00000256935.8	+	29	2995	c.2915C>T	c.(2914-2916)aCc>aTc	p.T972I	DOCK2_ENST00000520908.1_Missense_Mutation_p.T464I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.T33I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	972	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGATGGAGACCTTCATCATG	0.453																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(2914-2916)aCc>aTc		dedicator of cytokinesis 2							251.0	231.0	238.0					5																	169412848		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169412848C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2915C>T	5.37:g.169412848C>T	ENSP00000256935:p.Thr972Ile					DOCK2_ENST00000540750.1_Missense_Mutation_p.T33I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T464I	p.T972I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		29	2995	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	972			Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2915C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	9.752	1.167730	0.21621	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.28255	1.62;1.62;1.62	5.19	5.19	0.71726	.	0.113505	0.64402	D	0.000016	T	0.26774	0.0655	N	0.05330	-0.07	0.47949	D	0.999556	B;D	0.63880	0.024;0.993	B;P	0.56343	0.022;0.796	T	0.03051	-1.1078	10	0.02654	T	1	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	464;972	E7ERW7;Q92608	.;DOCK2_HUMAN	I	972;464;33	ENSP00000256935:T972I;ENSP00000429283:T464I;ENSP00000438827:T33I	ENSP00000256935:T972I	T	+	2	0	DOCK2	169345426	1.000000	0.71417	0.992000	0.48379	0.833000	0.47200	5.986000	0.70563	2.426000	0.82243	0.561000	0.74099	ACC		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		13	649	0	0	0	1	0	13	649				
NOMO1	23420	broad.mit.edu	37	16	14970277	14970277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14970277G>T	ENST00000287667.7	+	21	2589	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	806						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TAGAAGGCCAGATCCACCCCG	0.507																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2416-2418)caG>caT		NODAL modulator 1							98.0	92.0	94.0					16																	14970277		2194	4297	6491	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14970277G>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2418G>T	16.37:g.14970277G>T	ENSP00000287667:p.Gln806His						p.Q806H	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			21	2589	+			806					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2418G>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.621047	0.46736	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04234	3.67	3.57	3.57	0.40892	.	0.059244	0.64402	D	0.000002	T	0.06462	0.0166	L	0.54323	1.7	0.50467	D	0.999874	P	0.41748	0.761	B	0.38500	0.275	T	0.41305	-0.9516	10	0.35671	T	0.21	-19.8079	12.7421	0.57259	0.0:0.0:1.0:0.0	.	806	Q15155	NOMO1_HUMAN	H	806;806;639	ENSP00000287667:Q806H	ENSP00000287667:Q806H	Q	+	3	2	NOMO1	14877778	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.034000	0.41145	1.821000	0.53095	0.398000	0.26397	CAG		0.507	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			103	447	1	0	1.14936e-50	1	1.42452e-50	103	447				
C9orf172	389813	broad.mit.edu	37	9	139741017	139741017	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139741017C>T	ENST00000436881.1	+	1	2151	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	717										endometrium(2)|large_intestine(1)|lung(6)	9						GCGTGGGCAGCGTGTGCCGCC	0.716																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2149-2151)agC>agT		chromosome 9 open reading frame 172							13.0	15.0	14.0					9																	139741017		1939	4097	6036	SO:0001819	synonymous_variant	389813							g.chr9:139741017C>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2151C>T	9.37:g.139741017C>T							p.S717S	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2151	+			717						Silent	SNP	ENST00000436881.1	37	c.2151C>T	CCDS48059.1																																																																																				0.716	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		7	186	0	0	0	1	0	7	186				
CAMK1D	57118	broad.mit.edu	37	10	12858268	12858268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12858268C>T	ENST00000378847.3	+	8	1111	c.774C>T	c.(772-774)aaC>aaT	p.N258N	CAMK1D_ENST00000378845.1_Silent_p.N258N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCATTCGGAACCTGATGGAGA	0.488																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(772-774)aaC>aaT		calcium/calmodulin-dependent protein kinase ID							82.0	74.0	77.0					10																	12858268		2203	4300	6503	SO:0001819	synonymous_variant	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12858268C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.774C>T	10.37:g.12858268C>T						CAMK1D_ENST00000378845.1_Silent_p.N258N	p.N258N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	8	1111	+			258			Protein kinase.		B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	37	c.774C>T	CCDS7091.1																																																																																				0.488	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		23	185	0	0	0	1	0	23	185				
PSAP	5660	broad.mit.edu	37	10	73588821	73588821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588821T>G	ENST00000394936.3	-	5	536	c.389A>C	c.(388-390)gAg>gCg	p.E130A	PSAP_ENST00000394934.1_Missense_Mutation_p.E130A			P07602	SAP_HUMAN	prosaposin	130	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGCACACCTCCCCAGGACG	0.542																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(388-390)gAg>gCg		prosaposin							60.0	61.0	61.0					10																	73588821		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73588821T>G	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.389A>C	10.37:g.73588821T>G	ENSP00000378394:p.Glu130Ala					PSAP_ENST00000394934.1_Missense_Mutation_p.E130A	p.E130A			P07602	SAP_HUMAN			5	536	-			130			Saposin B-type 1.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.389A>C	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710205	0.48517	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.74106	-0.81;-0.81	5.0	3.83	0.44106	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.051555	0.85682	D	0.000000	T	0.63721	0.2535	L	0.43152	1.355	0.35697	D	0.815282	P	0.46064	0.872	P	0.45167	0.472	T	0.63681	-0.6582	10	0.13470	T	0.59	-23.1839	5.6585	0.17656	0.2929:0.0:0.1327:0.5744	.	130	P07602	SAP_HUMAN	A	130;130;130;130;133;55	ENSP00000378394:E130A;ENSP00000378392:E130A	ENSP00000350063:E130A	E	-	2	0	PSAP	73258827	1.000000	0.71417	0.991000	0.47740	0.814000	0.46013	5.356000	0.66052	0.828000	0.34709	0.260000	0.18958	GAG		0.542	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		49	310	0	0	0	1	0	49	310				
APOA5	116519	broad.mit.edu	37	11	116661334	116661334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661334C>T	ENST00000227665.4	-	3	645	c.611G>A	c.(610-612)cGc>cAc	p.R204H	APOA5_ENST00000542499.1_Missense_Mutation_p.R204H|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	204					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGCACGTGGCGCCCGATGCC	0.701																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(610-612)cGc>cAc		apolipoprotein A-V							13.0	16.0	15.0					11																	116661334		2176	4251	6427	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661334C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.611G>A	11.37:g.116661334C>T	ENSP00000227665:p.Arg204His					APOA5_ENST00000227665.4_Missense_Mutation_p.R204H	p.R204H	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	683	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	204					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.611G>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	5.983	0.365282	0.11352	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.73681	-0.77;-0.77	4.84	-7.05	0.01573	Apolipoprotein/apolipophorin (1);	1.167800	0.06305	N	0.701598	T	0.54870	0.1885	N	0.11064	0.09	0.22851	N	0.998653	B;B	0.14805	0.011;0.004	B;B	0.12837	0.008;0.008	T	0.39761	-0.9598	10	0.29301	T	0.29	-6.7753	16.6351	0.85050	0.0:0.7996:0.0:0.2004	.	201;204	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	204	ENSP00000227665:R204H;ENSP00000445002:R204H	ENSP00000227665:R204H	R	-	2	0	APOA5	116166544	0.163000	0.22920	0.823000	0.32752	0.894000	0.52154	-0.967000	0.03821	-1.392000	0.02082	-0.157000	0.13467	CGC		0.701	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			42	156	0	0	0	1	0	42	156				
SYT10	341359	broad.mit.edu	37	12	33579114	33579114	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33579114T>C	ENST00000228567.3	-	2	764	c.468A>G	c.(466-468)gcA>gcG	p.A156A	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	156					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGCACACGTGCATGTTTAA	0.413																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(466-468)gcA>gcG		synaptotagmin X							189.0	196.0	193.0					12																	33579114		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579114T>C	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.468A>G	12.37:g.33579114T>C						SYT10_ENST00000535526.1_5'UTR	p.A156A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			2	764	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		156					Q495U2	Silent	SNP	ENST00000228567.3	37	c.468A>G	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		225	977	0	0	0	1	0	225	977				
COL4A2	1284	broad.mit.edu	37	13	111118398	111118398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111118398C>T	ENST00000360467.5	+	26	2333	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	676	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGACAGGAGGCCATCCAGCCA	0.493																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2026-2028)gCc>gTc		collagen, type IV, alpha 2							130.0	132.0	131.0					13																	111118398		1984	4166	6150	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111118398C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2027C>T	13.37:g.111118398C>T	ENSP00000353654:p.Ala676Val						p.A676V	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		26	2333	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	676			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2027C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316553	0.05422	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.91237	-2.81	4.67	-2.22	0.06952	.	2.146400	0.02982	N	0.145762	T	0.77605	0.4155	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66834	-0.5823	10	0.19590	T	0.45	.	5.4056	0.16320	0.0:0.2764:0.1621:0.5615	.	676	P08572	CO4A2_HUMAN	V	676	ENSP00000353654:A676V	ENSP00000257309:A676V	A	+	2	0	COL4A2	109916399	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.665000	0.01965	-0.142000	0.11354	-0.363000	0.07495	GCC		0.493	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		25	362	0	0	0	1	0	25	362				
POU3F1	5453	broad.mit.edu	37	1	38511485	38511485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38511485G>A	ENST00000373012.2	-	1	965	c.931C>T	c.(931-933)Ccg>Tcg	p.P311S	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	311	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGAGCAGCGGCTTGAGCTTG	0.637																																						ENST00000373012.2																			0				cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(931-933)Ccg>Tcg		POU class 3 homeobox 1							54.0	47.0	50.0					1																	38511485		2203	4300	6503	SO:0001583	missense	5453				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:38511485G>A	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.931C>T	1.37:g.38511485G>A	ENSP00000362103:p.Pro311Ser						p.P311S	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN			1	965	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	311			POU-specific.		Q5TAG2	Missense_Mutation	SNP	ENST00000373012.2	37	c.931C>T	CCDS30679.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566948	0.65651	.	.	ENSG00000185668	ENST00000373012	D	0.89875	-2.58	3.78	3.78	0.43462	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	U	0.000000	D	0.94384	0.8194	M	0.91196	3.185	0.54753	D	0.999985	D	0.56035	0.974	P	0.60173	0.87	D	0.95204	0.8319	10	0.62326	D	0.03	.	13.4986	0.61440	0.0:0.0:1.0:0.0	.	311	Q03052	PO3F1_HUMAN	S	311	ENSP00000362103:P311S	ENSP00000362103:P311S	P	-	1	0	POU3F1	38284072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.219000	0.78000	2.113000	0.64589	0.400000	0.26472	CCG		0.637	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1	NM_002699		6	254	0	0	0	1	0	6	254				
ERF	2077	broad.mit.edu	37	19	42753347	42753347	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753347C>A	ENST00000222329.4	-	4	1074	c.917G>T	c.(916-918)aGc>aTc	p.S306I	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.S231I|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	306					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTCCTCAGGGCTGAAGGAGAA	0.667																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(916-918)aGc>aTc		Ets2 repressor factor							49.0	53.0	52.0					19																	42753347		2203	4298	6501	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753347C>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.917G>T	19.37:g.42753347C>A	ENSP00000222329:p.Ser306Ile					ERF_ENST00000440177.2_Missense_Mutation_p.S231I|AC006486.9_ENST00000594664.1_Intron	p.S306I	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1074	-		Prostate(69;0.00682)	306					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.917G>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329046	0.60743	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.29397	1.57;1.57	5.09	4.05	0.47172	.	0.060727	0.64402	D	0.000007	T	0.14700	0.0355	N	0.08118	0	0.36871	D	0.88889	P	0.45126	0.851	B	0.38880	0.284	T	0.13629	-1.0502	10	0.87932	D	0	.	7.9331	0.29914	0.0:0.8129:0.0:0.1871	.	306	P50548	ERF_HUMAN	I	306;231	ENSP00000222329:S306I;ENSP00000388173:S231I	ENSP00000222329:S306I	S	-	2	0	ERF	47445187	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.991000	0.49409	1.271000	0.44313	0.655000	0.94253	AGC		0.667	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		33	159	1	0	2.68265e-12	1	2.87809e-12	33	159				
TCTEX1D1	200132	broad.mit.edu	37	1	67236111	67236111	+	Missense_Mutation	SNP	G	G	A	rs376669297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67236111G>A	ENST00000282670.2	+	3	289	c.161G>A	c.(160-162)cGt>cAt	p.R54H	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	54										large_intestine(2)|lung(10)|skin(1)	13						CCCAGTCAGCGTGATGATATC	0.333																																						ENST00000282670.2																			0				large_intestine(2)|lung(10)|skin(1)	13						c.(160-162)cGt>cAt		Tctex1 domain containing 1		G	HIS/ARG	0,4406		0,0,2203	192.0	187.0	189.0		161	-10.6	0.0	1		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTEX1D1	NM_152665.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	54/180	67236111	1,13005	2203	4300	6503	SO:0001583	missense	200132							g.chr1:67236111G>A	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.161G>A	1.37:g.67236111G>A	ENSP00000282670:p.Arg54His					TCTEX1D1_ENST00000491611.1_3'UTR	p.R54H	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN			3	289	+			54					Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	c.161G>A	CCDS633.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570248	0.28003	0.0	1.16E-4	ENSG00000152760	ENST00000282670	T	0.14516	2.5	6.06	-10.6	0.00265	.	0.742522	0.13351	N	0.394416	T	0.01940	0.0061	N	0.24115	0.695	0.18873	N	0.999985	B	0.09022	0.002	B	0.04013	0.001	T	0.40997	-0.9533	10	0.28530	T	0.3	-21.7112	11.5878	0.50929	0.5997:0.2418:0.1585:0.0	.	54	Q8N7M0	TC1D1_HUMAN	H	54	ENSP00000282670:R54H	ENSP00000282670:R54H	R	+	2	0	TCTEX1D1	67008699	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.489000	0.06490	-1.795000	0.01255	-0.182000	0.12963	CGT		0.333	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		136	453	0	0	0	1	0	136	453				
BPNT1	10380	broad.mit.edu	37	1	220240718	220240718	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220240718T>C	ENST00000469520.2	-	7	849	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A|BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A|BPNT1_ENST00000482136.1_5'UTR			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATAAGAACTGTTACATTGTCA	0.308																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(400-402)Aca>Gca		3'(2'), 5'-bisphosphate nucleotidase 1							77.0	72.0	74.0					1																	220240718		1811	4073	5884	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220240718T>C	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.400A>G	1.37:g.220240718T>C	ENSP00000446828:p.Thr134Ala					BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A|BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A|BPNT1_ENST00000482136.1_5'UTR	p.T134A			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	7	849	-			134					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.400A>G	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616325	0.87359	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.984	D	0.90526	0.4492	10	0.62326	D	0.03	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	98;134;134	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	A	134;134;134;134;79;98;98;98;79	ENSP00000318852:T134A;ENSP00000446828:T134A;ENSP00000346862:T134A;ENSP00000444398:T79A;ENSP00000410348:T98A;ENSP00000446953:T98A;ENSP00000446850:T98A;ENSP00000448740:T79A	ENSP00000307087:T134A	T	-	1	0	BPNT1	218307341	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.788000	0.85771	2.272000	0.75746	0.460000	0.39030	ACA		0.308	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		47	225	0	0	0	1	0	47	225				
TET3	200424	broad.mit.edu	37	2	74273825	74273825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74273825G>A	ENST00000409262.3	+	1	376	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	126					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACGGCCCTGGCCCTCGCGCG	0.627																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(376-378)Gcc>Acc		tet methylcytosine dioxygenase 3							51.0	54.0	53.0					2																	74273825		2046	4199	6245	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74273825G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.376G>A	2.37:g.74273825G>A	ENSP00000386869:p.Ala126Thr						p.A126T	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	376	+			126					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.376G>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676362	0.67928	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.28895	1.59;2.5	5.31	5.31	0.75309	.	.	.	.	.	T	0.25419	0.0618	N	0.24115	0.695	0.37515	D	0.917294	B	0.27853	0.191	B	0.26770	0.073	T	0.13683	-1.0500	9	0.56958	D	0.05	.	17.9029	0.88910	0.0:0.0:1.0:0.0	.	126	O43151	TET3_HUMAN	T	168;126;126	ENSP00000307803:A168T;ENSP00000386869:A126T	ENSP00000233310:A126T	A	+	1	0	TET3	74127333	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.283000	0.58977	2.768000	0.95171	0.561000	0.74099	GCC		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			126	335	0	0	0	1	0	126	335				
MXRA5	25878	broad.mit.edu	37	X	3235453	3235453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3235453C>T	ENST00000217939.6	-	6	6423	c.6269G>A	c.(6268-6270)cGc>cAc	p.R2090H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2090	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCGAGGGGCGGATCTGGGT	0.652																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6268-6270)cGc>cAc		matrix-remodelling associated 5							34.0	30.0	31.0					X																	3235453		2199	4294	6493	SO:0001583	missense	25878					extracellular region		g.chrX:3235453C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6269G>A	X.37:g.3235453C>T	ENSP00000217939:p.Arg2090His						p.R2090H	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6423	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2090			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6269G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	10.34	1.322750	0.23994	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68331	-0.32	3.63	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36815	U	0.002392	T	0.65995	0.2745	L	0.28014	0.82	0.09310	N	1	D	0.64830	0.994	P	0.58928	0.848	T	0.60058	-0.7337	10	0.56958	D	0.05	.	11.8444	0.52376	0.1766:0.8234:0.0:0.0	.	2090	Q9NR99	MXRA5_HUMAN	H	2090	ENSP00000217939:R2090H	ENSP00000217939:R2090H	R	-	2	0	MXRA5	3245453	0.911000	0.30947	0.008000	0.14137	0.065000	0.16274	2.716000	0.47219	0.386000	0.24997	0.597000	0.82753	CGC		0.652	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		22	66	0	0	0	1	0	22	66				
LMOD1	25802	broad.mit.edu	37	1	201869208	201869208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201869208C>A	ENST00000367288.4	-	2	1179	c.933G>T	c.(931-933)gaG>gaT	p.E311D	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	311					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCTGCCTCCTCCTCCACCT	0.537																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(931-933)gaG>gaT		leiomodin 1 (smooth muscle)							68.0	68.0	68.0					1																	201869208		2053	4196	6249	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201869208C>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.933G>T	1.37:g.201869208C>A	ENSP00000356257:p.Glu311Asp						p.E311D	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1179	-			311					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.933G>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009822	0.19277	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91792	-2.91	5.08	3.95	0.45737	.	0.000000	0.40385	N	0.001120	D	0.85952	0.5817	L	0.45137	1.4	0.33461	D	0.584948	B;B	0.33448	0.355;0.412	B;B	0.27262	0.057;0.078	D	0.87607	0.2501	10	0.38643	T	0.18	-35.2165	9.3458	0.38107	0.0:0.8837:0.0:0.1163	.	260;311	B4E3S9;P29536	.;LMOD1_HUMAN	D	311;311;260	ENSP00000356257:E311D	ENSP00000356257:E311D	E	-	3	2	LMOD1	200135831	0.530000	0.26330	1.000000	0.80357	0.280000	0.26924	-0.223000	0.09177	2.355000	0.79922	0.505000	0.49811	GAG		0.537	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			62	171	1	0	2.2129e-31	1	2.60483e-31	62	171				
DAAM2	23500	broad.mit.edu	37	6	39869088	39869088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39869088C>T	ENST00000398904.2	+	24	3004	c.2822C>T	c.(2821-2823)gCc>gTc	p.A941V	DAAM2_ENST00000538976.1_Missense_Mutation_p.A940V|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	941	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCGCCAAGGCCTTGATGCAC	0.562																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2818-2820)gCc>gTc		dishevelled associated activator of morphogenesis 2							164.0	167.0	166.0					6																	39869088		2073	4210	6283	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869088C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2822C>T	6.37:g.39869088C>T	ENSP00000381876:p.Ala941Val					DAAM2_ENST00000398904.2_Missense_Mutation_p.A941V|DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V	p.A940V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			24	3001	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		941			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2819C>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815744	0.50527	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.16743	2.32;2.32;2.32	5.44	4.56	0.56223	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.130091	0.50627	D	0.000110	T	0.05364	0.0142	N	0.25286	0.73	0.80722	D	1	P;P	0.40731	0.681;0.728	B;B	0.37692	0.166;0.256	T	0.33163	-0.9879	10	0.18710	T	0.47	.	15.9472	0.79803	0.0:0.8646:0.1354:0.0	.	940;941	G5EA45;Q86T65	.;DAAM2_HUMAN	V	941;941;940	ENSP00000274867:A941V;ENSP00000381876:A941V;ENSP00000437808:A940V	ENSP00000274867:A941V	A	+	2	0	DAAM2	39977066	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	6.017000	0.70805	1.268000	0.44264	0.655000	0.94253	GCC		0.562	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			66	792	0	0	0	1	0	66	792				
TNFRSF19	55504	broad.mit.edu	37	13	24200923	24200923	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24200923A>C	ENST00000382258.4	+	5	641	c.437A>C	c.(436-438)gAa>gCa	p.E146A	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.E146A|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	146					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTCCTTACGAACCGCACTGT	0.468																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(436-438)gAa>gCa		tumor necrosis factor receptor superfamily, member 19							97.0	84.0	89.0					13																	24200923		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24200923A>C	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.437A>C	13.37:g.24200923A>C	ENSP00000371693:p.Glu146Ala					TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A	p.E146A	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	5	621	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	146					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.437A>C	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209581	0.58343	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.79475	2.455	0.47214	D	0.999354	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.987	T	0.54563	-0.8275	10	0.48119	T	0.1	-26.9284	15.3132	0.74053	1.0:0.0:0.0:0.0	.	14;146;146	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	A	146;14;146;146	ENSP00000248484:E146A;ENSP00000385408:E14A;ENSP00000371693:E146A;ENSP00000371698:E146A	ENSP00000248484:E146A	E	+	2	0	TNFRSF19	23098923	1.000000	0.71417	0.966000	0.40874	0.081000	0.17604	7.651000	0.83577	2.108000	0.64289	0.477000	0.44152	GAA		0.468	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		28	195	0	0	0	1	0	28	195				
FAM91A1	157769	broad.mit.edu	37	8	124787488	124787488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124787488G>A	ENST00000334705.7	+	3	505	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	87										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGATATTATGGTGAAAGGCTT	0.423																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(259-261)Gtg>Atg		family with sequence similarity 91, member A1							132.0	121.0	124.0					8																	124787488		1953	4144	6097	SO:0001583	missense	157769							g.chr8:124787488G>A	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.259G>A	8.37:g.124787488G>A	ENSP00000335082:p.Val87Met					FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	p.V87M	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	505	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		87					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.259G>A	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593471	0.86953	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.53206	0.63;1.21	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000001	T	0.72137	0.3423	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.75958	-0.3134	10	0.72032	D	0.01	.	19.0221	0.92919	0.0:0.0:1.0:0.0	.	87;87	E7ER68;Q658Y4	.;F91A1_HUMAN	M	87	ENSP00000429491:V87M;ENSP00000335082:V87M	ENSP00000335082:V87M	V	+	1	0	FAM91A1	124856669	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	9.655000	0.98512	2.495000	0.84180	0.655000	0.94253	GTG		0.423	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		45	277	0	0	0	1	0	45	277				
GOLGA5	9950	broad.mit.edu	37	14	93282689	93282689	+	Missense_Mutation	SNP	C	C	T	rs34964124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93282689C>T	ENST00000163416.2	+	7	1670	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R472W	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	472					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GGAAGAACTTCGGCATGAGAA	0.443			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(1414-1416)Cgg>Tgg		golgin A5		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	119.0	119.0		1414	5.3	1.0	14	dbSNP_126	119	0,8600		0,0,4300	no	missense	GOLGA5	NM_005113.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	472/732	93282689	1,13005	2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93282689C>T	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1414C>T	14.37:g.93282689C>T	ENSP00000163416:p.Arg472Trp					GOLGA5_ENST00000355976.2_Missense_Mutation_p.R472W	p.R472W	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	7	1670	+		all_cancers(154;0.0934)	472					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.1414C>T	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870146	0.72065	2.27E-4	0.0	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.51574	0.7;0.7	5.35	5.35	0.76521	.	0.000000	0.43747	D	0.000537	T	0.66426	0.2788	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.69978	-0.4998	10	0.87932	D	0	-24.7581	12.2417	0.54546	0.2881:0.7119:0.0:0.0	rs34964124	472	Q8TBA6	GOGA5_HUMAN	W	472;472;381	ENSP00000163416:R472W;ENSP00000348252:R472W	ENSP00000163416:R472W	R	+	1	2	GOLGA5	92352442	1.000000	0.71417	0.999000	0.59377	0.835000	0.47333	2.571000	0.45990	2.490000	0.84030	0.655000	0.94253	CGG		0.443	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			17	527	0	0	0	1	0	17	527				
TMEM192	201931	broad.mit.edu	37	4	166021946	166021946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166021946T>G	ENST00000306480.6	-	3	418	c.273A>C	c.(271-273)aaA>aaC	p.K91N	TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCGTCTGAACTTTCAATGGGT	0.388																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(271-273)aaA>aaC		transmembrane protein 192							124.0	122.0	122.0					4																	166021946		1859	4099	5958	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166021946T>G	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.273A>C	4.37:g.166021946T>G	ENSP00000305069:p.Lys91Asn					TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	p.K91N	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	3	418	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	91					Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.273A>C	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147221	0.37923	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.31	-0.0997	0.13623	.	0.472269	0.27319	N	0.019914	T	0.41419	0.1158	L	0.57536	1.79	0.33843	D	0.631653	B	0.27351	0.176	B	0.21917	0.037	T	0.44772	-0.9306	9	0.22706	T	0.39	-1.2884	9.3717	0.38258	0.0:0.377:0.0:0.623	.	91	Q8IY95	TM192_HUMAN	N	91;87	.	ENSP00000305069:K91N	K	-	3	2	TMEM192	166241396	0.965000	0.33210	0.994000	0.49952	0.878000	0.50629	-0.079000	0.11357	0.116000	0.18110	0.402000	0.26972	AAA		0.388	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		70	325	0	0	0	1	0	70	325				
MKRN1	23608	broad.mit.edu	37	7	140156610	140156610	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140156610G>A	ENST00000255977.2	-	5	1052	c.828C>T	c.(826-828)agC>agT	p.S276S	MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000443720.2_Silent_p.S276S|MKRN1_ENST00000474576.1_Silent_p.S212S|MKRN1_ENST00000480552.1_Missense_Mutation_p.A60V	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	276					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCATGTCCTTGCTGCGCTGCA	0.542																																						ENST00000480552.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(178-180)gCa>gTa		makorin ring finger protein 1							75.0	61.0	66.0					7																	140156610		2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140156610G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.828C>T	7.37:g.140156610G>A						MKRN1_ENST00000474576.1_Silent_p.S212S|MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000443720.2_Silent_p.S276S|MKRN1_ENST00000255977.2_Silent_p.S276S	p.A60V			Q9UHC7	MKRN1_HUMAN			3	275	-	Melanoma(164;0.00956)		94					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.179C>T	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561816	0.27915	.	.	ENSG00000133606	ENST00000480552	.	.	.	5.11	-4.25	0.03766	.	.	.	.	.	T	0.64746	0.2626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65569	-0.6136	5	0.37606	T	0.19	.	14.1562	0.65419	0.5958:0.0:0.4042:0.0	.	.	.	.	V	60	.	ENSP00000419894:A60V	A	-	2	0	MKRN1	139803079	0.199000	0.23386	0.951000	0.38953	0.999000	0.98932	-0.268000	0.08607	-0.801000	0.04427	0.655000	0.94253	GCA		0.542	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		36	189	0	0	0	1	0	36	189				
CDH2	1000	broad.mit.edu	37	18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A	rs199882009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25572675G>A	ENST00000269141.3	-	9	1711	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGCGAACCGTCCAGTAGGA	0.527																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1288-1290)Cgg>Tgg		cadherin 2, type 1, N-cadherin (neuronal)							207.0	161.0	177.0					18																	25572675		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572675G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1288C>T	18.37:g.25572675G>A	ENSP00000269141:p.Arg430Trp					CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	p.R430W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			9	1711	-			430			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1288C>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646380	0.47258	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50813	0.73;0.73	5.39	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.162822	0.52532	D	0.000075	T	0.60702	0.2289	L	0.43598	1.365	0.40622	D	0.981774	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.62978	-0.6739	10	0.48119	T	0.1	.	15.3486	0.74363	0.0:0.0:0.8551:0.1449	.	399;430	A8MWK3;P19022	.;CADH2_HUMAN	W	430;399	ENSP00000269141:R430W;ENSP00000382312:R399W	ENSP00000269141:R430W	R	-	1	2	CDH2	23826673	0.880000	0.30214	0.071000	0.20095	0.146000	0.21551	3.612000	0.54142	1.334000	0.45468	0.655000	0.94253	CGG		0.527	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		51	250	0	0	0	1	0	51	250				
FLNA	2316	broad.mit.edu	37	X	153590625	153590625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153590625C>T	ENST00000369850.3	-	18	2877	c.2641G>A	c.(2641-2643)Ggc>Agc	p.G881S	FLNA_ENST00000344736.4_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S|FLNA_ENST00000422373.1_Missense_Mutation_p.G881S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	881					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGACTGAGGCCAGGGCCCTCG	0.662																																						ENST00000422373.1																			0				breast(6)	6						c.(2641-2643)Ggc>Agc		filamin A, alpha							68.0	71.0	70.0					X																	153590625		2071	4180	6251	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590625C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2641G>A	X.37:g.153590625C>T	ENSP00000358866:p.Gly881Ser					FLNA_ENST00000344736.4_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S|FLNA_ENST00000369850.3_Missense_Mutation_p.G881S	p.G881S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			18	2889	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		881					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2641G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781649	0.90282	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.97256	0.9103	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98623	1.0668	10	0.87932	D	0	.	17.5374	0.87835	0.0:1.0:0.0:0.0	.	881;881	P21333-2;P21333	.;FLNA_HUMAN	S	881;854;881;881;881	ENSP00000353467:G881S;ENSP00000416926:G881S;ENSP00000358866:G881S;ENSP00000358863:G881S	ENSP00000358863:G881S	G	-	1	0	FLNA	153243819	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.715000	0.84713	2.156000	0.67533	0.529000	0.55759	GGC		0.662	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			110	382	0	0	0	1	0	110	382				
CSMD3	114788	broad.mit.edu	37	8	113317044	113317044	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113317044G>T	ENST00000297405.5	-	52	8416	c.8172C>A	c.(8170-8172)agC>agA	p.S2724R	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2724	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACAGCTGAAAACTA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8170-8172)agC>agA		CUB and Sushi multiple domains 3							125.0	107.0	113.0					8																	113317044		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113317044G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8172C>A	8.37:g.113317044G>T	ENSP00000297405:p.Ser2724Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R	p.S2724R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			52	8416	-			2724			Sushi 16.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8172C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158734	0.38119	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.04	1.25	0.21368	Complement control module (2);Sushi/SCR/CCP (3);	0.071935	0.56097	D	0.000029	T	0.48978	0.1530	L	0.28504	0.86	0.42354	D	0.992383	B;P	0.44877	0.428;0.845	B;P	0.44860	0.309;0.462	T	0.30679	-0.9970	10	0.28530	T	0.3	.	9.3541	0.38155	0.3569:0.0:0.6431:0.0	.	2724;2684	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	R	2684;2724;1994;2654	ENSP00000345799:S2684R;ENSP00000297405:S2724R;ENSP00000341558:S1994R;ENSP00000343124:S2654R	ENSP00000297405:S2724R	S	-	3	2	CSMD3	113386220	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.787000	0.47798	-0.000000	0.14550	-0.150000	0.13652	AGC		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		42	237	1	0	2.38262e-10	1	2.52522e-10	42	237				
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TCGACGCTTGTCTGGGAGGCT	0.423																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.(949-951)tgT>tgC		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						146.0	136.0	139.0					10																	72631635		2203	4300	6503	SO:0001819	synonymous_variant	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72631635T>C	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.951T>C	10.37:g.72631635T>C							p.C317C	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			11	1151	+			317					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	37	c.951T>C	CCDS31216.1																																																																																				0.423	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		125	536	0	0	0	1	0	125	536				
TNIP3	79931	broad.mit.edu	37	4	122075755	122075755	+	Missense_Mutation	SNP	G	G	A	rs374033583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122075755G>A	ENST00000509841.1	-	8	752	c.674C>T	c.(673-675)gCg>gTg	p.A225V	TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V|TNIP3_ENST00000454328.1_Missense_Mutation_p.A148V	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTCCTTGTTCGCAAGAGTATT	0.343																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(442-444)gCg>gTg		TNFAIP3 interacting protein 3		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	166.0	153.0	157.0		443,443	-5.2	0.0	4		157	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	TNIP3	NM_001128843.2,NM_024873.5	64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	148/326,148/326	122075755	2,13002	2203	4299	6502	SO:0001583	missense	79931							g.chr4:122075755G>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.674C>T	4.37:g.122075755G>A	ENSP00000426613:p.Ala225Val					TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V|TNIP3_ENST00000509841.1_Missense_Mutation_p.A225V	p.A148V			Q96KP6	TNIP3_HUMAN			7	670	-			148						Missense_Mutation	SNP	ENST00000509841.1	37	c.443C>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.516059	0.00151	0.0	2.33E-4	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.71	-5.17	0.02849	.	1.828580	0.02425	N	0.082965	T	0.28632	0.0709	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18999	-1.0319	10	0.13108	T	0.6	0.2705	6.6311	0.22857	0.5605:0.0:0.2377:0.2018	.	218;148;148	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	V	148;148;218;225	ENSP00000057513:A148V;ENSP00000411817:A148V;ENSP00000427106:A218V;ENSP00000426613:A225V	ENSP00000057513:A148V	A	-	2	0	TNIP3	122295205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.129000	0.10515	-1.090000	0.03069	-2.455000	0.00206	GCG		0.343	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		55	290	0	0	0	1	0	55	290				
CD1A	909	broad.mit.edu	37	1	158225026	158225026	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158225026T>C	ENST00000289429.5	+	2	744	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	71				WS -> V (in Ref. 7; AAA51933). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTGCCCCTGGTCCAGGGGAAA	0.488																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(211-213)Tcc>Ccc		CD1a molecule	Antithymocyte globulin(DB00098)						107.0	101.0	103.0					1																	158225026		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225026T>C	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.211T>C	1.37:g.158225026T>C	ENSP00000289429:p.Ser71Pro						p.S71P	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			2	744	+	all_hematologic(112;0.0378)		71	WS -> V (in Ref. 7; AAA51933).				D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.211T>C	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327550	0.41197	.	.	ENSG00000158477	ENST00000289429	T	0.00724	5.78	4.54	3.38	0.38709	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.218281	0.23492	N	0.047600	T	0.01940	0.0061	M	0.87097	2.86	0.26685	N	0.971464	D	0.89917	1.0	D	0.83275	0.996	T	0.29971	-0.9994	10	0.87932	D	0	-18.9009	7.5545	0.27817	0.0:0.0:0.2395:0.7605	.	71	P06126	CD1A_HUMAN	P	71	ENSP00000289429:S71P	ENSP00000289429:S71P	S	+	1	0	CD1A	156491650	0.922000	0.31269	0.984000	0.44739	0.074000	0.17049	0.422000	0.21296	1.911000	0.55334	0.477000	0.44152	TCC		0.488	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		89	280	0	0	0	1	0	89	280				
FBN2	2201	broad.mit.edu	37	5	127671238	127671238	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127671238G>T	ENST00000508053.1	-	35	4730	c.3756C>A	c.(3754-3756)ggC>ggA	p.G1252G	FBN2_ENST00000507835.1_Silent_p.G102G|FBN2_ENST00000262464.4_Silent_p.G1252G|FBN2_ENST00000508989.1_Silent_p.G1219G			P35556	FBN2_HUMAN	fibrillin 2	1252	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGTGTCACAGCCTCCGTTCA	0.438																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3754-3756)ggC>ggA		fibrillin 2							167.0	157.0	160.0					5																	127671238		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127671238G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3756C>A	5.37:g.127671238G>T						FBN2_ENST00000508989.1_Silent_p.G1219G|FBN2_ENST00000507835.1_Silent_p.G102G|FBN2_ENST00000262464.4_Silent_p.G1252G	p.G1252G			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	35	4730	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1252			EGF-like 19; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3756C>A	CCDS34222.1																																																																																				0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		31	923	1	0	5.45727e-16	1	5.98072e-16	31	923				
MAGEC1	9947	broad.mit.edu	37	X	140995885	140995885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995885G>T	ENST00000285879.4	+	4	2981	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	899										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTGATAGAGAGCGAGCC	0.478										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2695-2697)Gag>Tag		melanoma antigen family C, 1							171.0	173.0	172.0					X																	140995885		2203	4300	6503	SO:0001587	stop_gained	9947						protein binding	g.chrX:140995885G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2695G>T	X.37:g.140995885G>T	ENSP00000285879:p.Glu899*	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_5'UTR	p.E899*	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2981	+	Acute lymphoblastic leukemia(192;6.56e-05)		899					A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	c.2695G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	37	6.161445	0.97338	.	.	ENSG00000155495	ENST00000285879	.	.	.	1.38	0.437	0.16555	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.3967	0.07308	0.2958:0.0:0.7042:0.0	.	.	.	.	X	899	.	ENSP00000285879:E899X	E	+	1	0	MAGEC1	140823551	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.199000	0.17237	0.084000	0.17077	0.279000	0.19357	GAG		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		247	967	1	0	3.64303e-86	1	4.6696e-86	247	967				
ZFC3H1	196441	broad.mit.edu	37	12	72008644	72008644	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72008644C>A	ENST00000378743.3	-	29	5688	c.5330G>T	c.(5329-5331)aGa>aTa	p.R1777I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1777					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATATCACATCTCATAGCCAC	0.388																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5329-5331)aGa>aTa		zinc finger, C3H1-type containing							216.0	196.0	202.0					12																	72008644		1923	4150	6073	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72008644C>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5330G>T	12.37:g.72008644C>A	ENSP00000368017:p.Arg1777Ile						p.R1777I	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			29	5688	-			1777					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.5330G>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036083	0.19590	.	.	ENSG00000133858	ENST00000378743	T	0.32272	1.46	5.2	0.144	0.14824	.	0.130606	0.53938	D	0.000060	T	0.15262	0.0368	N	0.19112	0.55	0.41689	D	0.989331	P	0.41748	0.761	B	0.35413	0.202	T	0.05146	-1.0903	10	0.38643	T	0.18	.	9.4812	0.38902	0.0:0.4191:0.0:0.5809	.	1777	O60293	ZC3H1_HUMAN	I	1777	ENSP00000368017:R1777I	ENSP00000368017:R1777I	R	-	2	0	ZFC3H1	70294911	1.000000	0.71417	0.921000	0.36526	0.258000	0.26162	1.667000	0.37471	0.036000	0.15547	-0.252000	0.11476	AGA		0.388	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		112	487	1	0	6.62378e-67	1	8.38613e-67	112	487				
FASTKD2	22868	broad.mit.edu	37	2	207631704	207631704	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631704G>T	ENST00000236980.6	+	2	635	c.287G>T	c.(286-288)aGc>aTc	p.S96I	FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	96					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGGGCATAAGCACTCTAACA	0.338																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(286-288)aGc>aTc		FAST kinase domains 2							47.0	48.0	48.0					2																	207631704		2202	4300	6502	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631704G>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.287G>T	2.37:g.207631704G>T	ENSP00000236980:p.Ser96Ile					FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I	p.S96I	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	635	+			96					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.287G>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157315	0.21454	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.50548	2.38;0.74;2.38;2.38	4.92	1.03	0.20045	.	1.697270	0.02974	N	0.144720	T	0.34687	0.0906	L	0.33485	1.01	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.19666	0.026;0.012	T	0.20306	-1.0279	10	0.49607	T	0.09	0.102	0.461	0.00516	0.2458:0.1419:0.3209:0.2914	.	96;96	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	I	96	ENSP00000236980:S96I;ENSP00000409927:S96I;ENSP00000385990:S96I;ENSP00000384929:S96I	ENSP00000236980:S96I	S	+	2	0	FASTKD2	207339949	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.093000	0.15086	0.012000	0.14892	0.561000	0.74099	AGC		0.338	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		22	140	1	0	2.37509e-13	1	2.56396e-13	22	140				
ZFHX4	79776	broad.mit.edu	37	8	77762534	77762534	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77762534C>A	ENST00000521891.2	+	9	4348	c.3900C>A	c.(3898-3900)gcC>gcA	p.A1300A	ZFHX4_ENST00000455469.2_Silent_p.A1255A|ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000050961.6_Silent_p.A1255A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCAGCTGCCTCTGAGAAAT	0.478										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(3898-3900)gcC>gcA		zinc finger homeobox 4							47.0	51.0	50.0					8																	77762534		1947	4144	6091	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77762534C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3900C>A	8.37:g.77762534C>A		HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Silent_p.A1255A|ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000455469.2_Silent_p.A1255A	p.A1300A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	4348	+			1255					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.3900C>A	CCDS47878.2																																																																																				0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	92	1	0	1.10923e-09	1	1.16946e-09	20	92				
CNTN5	53942	broad.mit.edu	37	11	99690413	99690413	+	Missense_Mutation	SNP	C	C	T	rs200519976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690413C>T	ENST00000524871.1	+	4	484	c.194C>T	c.(193-195)tCt>tTt	p.S65F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	65					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGAGTGCTTCTTCACCCAGC	0.428																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(193-195)tCt>tTt		contactin 5							91.0	92.0	92.0					11																	99690413		1922	4125	6047	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690413C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.194C>T	11.37:g.99690413C>T	ENSP00000435637:p.Ser65Phe					CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F	p.S65F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	484	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	65					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.194C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575017	0.28092	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56444	0.46;0.53;0.53;0.53	4.74	3.8	0.43715	.	0.334642	0.24894	N	0.034757	T	0.42131	0.1189	N	0.19112	0.55	0.37224	D	0.905385	P;P	0.46277	0.875;0.79	P;B	0.44732	0.459;0.276	T	0.50250	-0.8850	10	0.42905	T	0.14	.	13.9622	0.64188	0.153:0.8469:0.0:0.0	.	65;65	E9PKE8;O94779	.;CNTN5_HUMAN	F	65	ENSP00000433575:S65F;ENSP00000436185:S65F;ENSP00000435637:S65F;ENSP00000279463:S65F	ENSP00000279463:S65F	S	+	2	0	CNTN5	99195623	0.904000	0.30761	0.996000	0.52242	0.267000	0.26476	1.828000	0.39111	1.266000	0.44231	0.650000	0.86243	TCT		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		20	246	0	0	0	1	0	20	246				
IQSEC3	440073	broad.mit.edu	37	12	274980	274980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:274980C>T	ENST00000538872.1	+	11	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Silent_p.D965D|IQSEC3_ENST00000382841.2_Silent_p.D662D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	965	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGGCTCGGACGAGATGCAGA	0.582																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2893-2895)gaC>gaT		IQ motif and Sec7 domain 3							76.0	73.0	74.0					12																	274980		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:274980C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2895C>T	12.37:g.274980C>T						IQSEC3_ENST00000382841.2_Silent_p.D662D|IQSEC3_ENST00000326261.4_Silent_p.D965D|RP11-598F7.5_ENST00000540136.1_RNA	p.D965D			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	11	3013	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		965			PH.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.2895C>T	CCDS53728.1																																																																																				0.582	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		51	202	0	0	0	1	0	51	202				
HS6ST1	9394	broad.mit.edu	37	2	129026052	129026052	+	Missense_Mutation	SNP	G	G	A	rs372108639		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026052G>A	ENST00000259241.6	-	2	933	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	307					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GAGGTTGAACGTCCGCTCGAA	0.627																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(919-921)aCg>aTg		heparan sulfate 6-O-sulfotransferase 1		G	MET/THR	1,4175		0,1,2087	32.0	33.0	33.0		920	4.8	1.0	2		33	0,8424		0,0,4212	no	missense	HS6ST1	NM_004807.2	81	0,1,6299	AA,AG,GG		0.0,0.0239,0.0079	probably-damaging	307/412	129026052	1,12599	2088	4212	6300	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026052G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.920C>T	2.37:g.129026052G>A	ENSP00000259241:p.Thr307Met						p.T307M	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	933	-	Colorectal(110;0.1)		307					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.920C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874990	0.72180	2.39E-4	0.0	ENSG00000136720	ENST00000259241	D	0.84589	-1.87	4.78	4.78	0.61160	.	0.047862	0.85682	N	0.000000	D	0.91085	0.7194	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90815	0.4704	9	.	.	.	0.0782	17.8351	0.88693	0.0:0.0:1.0:0.0	.	307	O60243	H6ST1_HUMAN	M	307	ENSP00000259241:T307M	.	T	-	2	0	HS6ST1	128742522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.439000	0.97543	2.203000	0.70933	0.462000	0.41574	ACG		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		34	141	0	0	0	1	0	34	141				
CDC42EP4	23580	broad.mit.edu	37	17	71282594	71282594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71282594G>A	ENST00000335793.3	-	2	440	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	16					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CGGGAACGGCGCTTGGAGTGC	0.682																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(46-48)Cgc>Tgc		CDC42 effector protein (Rho GTPase binding) 4							25.0	27.0	26.0					17																	71282594		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282594G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.46C>T	17.37:g.71282594G>A	ENSP00000338258:p.Arg16Cys					CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C|CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C	p.R16C			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	440	-			16					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.46C>T	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859681	0.91433	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.37584	1.19;1.34	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.54214	-0.8327	10	0.56958	D	0.05	-22.2573	13.1241	0.59344	0.0:0.0:0.8396:0.1603	.	16;16	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	C	16	ENSP00000338258:R16C;ENSP00000404270:R16C	ENSP00000338258:R16C	R	-	1	0	CDC42EP4	68794189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.548000	0.60718	2.378000	0.81104	0.585000	0.79938	CGC		0.682	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		37	138	0	0	0	1	0	37	138				
GABRA5	2558	broad.mit.edu	37	15	27128536	27128536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27128536G>A	ENST00000335625.5	+	6	1217	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	110					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GAAAGGCTTCGGTTTAAGGGG	0.562																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(328-330)cGg>cAg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						107.0	117.0	114.0					15																	27128536		2118	4262	6380	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128536G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.329G>A	15.37:g.27128536G>A	ENSP00000335592:p.Arg110Gln					GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q	p.R110Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	6	1217	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	110					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.329G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651070	0.47362	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.4	3.39	0.38822	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101513	0.64402	N	0.000002	T	0.59715	0.2214	N	0.13098	0.295	0.35436	D	0.794458	B	0.06786	0.001	B	0.08055	0.003	T	0.59968	-0.7354	10	0.62326	D	0.03	.	8.0138	0.30368	0.2683:0.0:0.7317:0.0	.	110	P31644	GBRA5_HUMAN	Q	110;110;78;110;110;110;78	ENSP00000335592:R110Q;ENSP00000347557:R110Q;ENSP00000450653:R78Q;ENSP00000382953:R110Q;ENSP00000450806:R110Q;ENSP00000450717:R110Q;ENSP00000450529:R78Q	ENSP00000335592:R110Q	R	+	2	0	GABRA5	24679629	0.033000	0.19621	0.919000	0.36401	0.646000	0.38490	1.164000	0.31810	0.655000	0.30866	0.561000	0.74099	CGG		0.562	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			27	648	0	0	0	1	0	27	648				
ZNF251	90987	broad.mit.edu	37	8	145948338	145948338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145948338G>A	ENST00000292562.7	-	5	982	c.707C>T	c.(706-708)cCg>cTg	p.P236L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACATTCGTACGGCTTCTCCCC	0.423																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(706-708)cCg>cTg		zinc finger protein 251							58.0	64.0	62.0					8																	145948338		2075	4236	6311	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948338G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.707C>T	8.37:g.145948338G>A	ENSP00000292562:p.Pro236Leu					ZNF251_ENST00000524394.1_Intron	p.P236L	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	982	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		236					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.707C>T	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214183	0.39102	.	.	ENSG00000198169	ENST00000292562	T	0.17054	2.3	2.44	1.55	0.23275	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28466	0.0704	L	0.59436	1.845	0.42217	D	0.991838	D	0.76494	0.999	P	0.59171	0.853	T	0.03829	-1.1000	9	0.66056	D	0.02	-9.0938	8.4183	0.32685	0.1307:0.0:0.8693:0.0	.	236	Q9BRH9	ZN251_HUMAN	L	236	ENSP00000292562:P236L	ENSP00000292562:P236L	P	-	2	0	ZNF251	145919147	1.000000	0.71417	0.213000	0.23690	0.113000	0.19764	4.403000	0.59729	0.577000	0.29470	0.563000	0.77884	CCG		0.423	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		9	385	0	0	0	1	0	9	385				
POMGNT1	55624	broad.mit.edu	37	1	46656157	46656157	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46656157T>C	ENST00000371984.3	-	19	1794	c.1637A>G	c.(1636-1638)cAc>cGc	p.H546R	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.H546R	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	546					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCCTGTGAACTTCCAC	0.527																																						ENST00000371992.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1636-1638)cAc>cGc		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							186.0	194.0	191.0					1																	46656157		2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46656157T>C		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1637A>G	1.37:g.46656157T>C	ENSP00000361052:p.His546Arg					POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371984.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R	p.H546R	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN			19	2287	-	Acute lymphoblastic leukemia(166;0.155)		546					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.1637A>G	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920763	0.33908	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;D;T;D	0.85013	-0.29;-1.93;-0.29;-1.93	5.53	4.3	0.51218	.	0.104769	0.64402	D	0.000003	T	0.70833	0.3269	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.20550	0.007;0.046;0.003;0.002	B;B;B;B	0.15870	0.011;0.009;0.011;0.014	T	0.65434	-0.6169	10	0.15066	T	0.55	-21.8027	12.0904	0.53722	0.1376:0.0:0.0:0.8624	.	524;546;403;546	F5H827;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;PMGT1_HUMAN	R	546;546;524;546	ENSP00000361052:H546R;ENSP00000361060:H546R;ENSP00000443767:H524R;ENSP00000361054:H546R	ENSP00000361052:H546R	H	-	2	0	POMGNT1	46428744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.170000	0.50816	2.124000	0.65301	0.459000	0.35465	CAC		0.527	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		131	1275	0	0	0	1	0	131	1275				
SPPL3	121665	broad.mit.edu	37	12	121202852	121202852	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121202852A>C	ENST00000353487.2	-	11	1608	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	370						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAGGCTCAGACCACATCCGC	0.468																																						ENST00000353487.2																			0											c.(1105-1107)Tct>Gct		signal peptide peptidase like 3							67.0	61.0	63.0					12																	121202852		2203	4300	6503	SO:0001583	missense	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121202852A>C		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1105T>G	12.37:g.121202852A>C	ENSP00000288680:p.Ser369Ala						p.S369A	NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN			11	1608	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		370					Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	c.1105T>G	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613923	0.46631	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.18016	2.24	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.43757	1.38	0.80722	D	1	P;P	0.39424	0.673;0.625	B;B	0.40256	0.324;0.252	T	0.01977	-1.1236	10	0.33940	T	0.23	-32.8141	15.477	0.75489	1.0:0.0:0.0:0.0	.	370;369	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	A	369;368	ENSP00000288680:S369A	ENSP00000288680:S369A	S	-	1	0	AC069214.1	119687235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.108000	0.64289	0.533000	0.62120	TCT		0.468	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		35	148	0	0	0	1	0	35	148				
CEP85L	387119	broad.mit.edu	37	6	118886795	118886795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118886795G>A	ENST00000368491.3	-	3	1538	c.917C>T	c.(916-918)aCa>aTa	p.T306I	CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.T309I|CEP85L_ENST00000419517.2_Missense_Mutation_p.T306I|CEP85L_ENST00000368488.5_Missense_Mutation_p.T309I|CEP85L_ENST00000360290.3_Missense_Mutation_p.T204I	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	306						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CAAAGGATTTGTCCGCAGCTG	0.448																																						ENST00000368491.3																			0											c.(916-918)aCa>aTa		centrosomal protein 85kDa-like							116.0	111.0	113.0					6																	118886795		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118886795G>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.917C>T	6.37:g.118886795G>A	ENSP00000357477:p.Thr306Ile					CEP85L_ENST00000392500.3_Missense_Mutation_p.T309I|CEP85L_ENST00000419517.2_Missense_Mutation_p.T306I|CEP85L_ENST00000368488.5_Missense_Mutation_p.T309I|CEP85L_ENST00000360290.3_Missense_Mutation_p.T204I|CEP85L_ENST00000472713.1_5'UTR	p.T306I	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			3	1538	-			306					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.917C>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347511	0.82022	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.23950	3.06;3.06;2.46;2.19;1.88;2.19	6.07	6.07	0.98685	.	0.198278	0.44483	D	0.000458	T	0.25195	0.0612	N	0.22421	0.69	0.40526	D	0.980881	D;D;D;D;D	0.59767	0.96;0.986;0.986;0.96;0.96	P;P;P;P;P	0.55391	0.711;0.775;0.775;0.663;0.663	T	0.01440	-1.1354	10	0.52906	T	0.07	-16.8619	20.6593	0.99626	0.0:0.0:1.0:0.0	.	204;309;306;309;306	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	I	306;309;309;309;204;306	ENSP00000357477:T306I;ENSP00000357474:T309I;ENSP00000392131:T309I;ENSP00000376288:T309I;ENSP00000353434:T204I;ENSP00000393317:T306I	ENSP00000353434:T204I	T	-	2	0	C6orf204	118993488	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.053000	0.71089	2.885000	0.99019	0.655000	0.94253	ACA		0.448	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		74	354	0	0	0	1	0	74	354				
TUB	7275	broad.mit.edu	37	11	8117116	8117116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8117116G>A	ENST00000299506.2	+	5	618	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	TUB_ENST00000534099.1_Missense_Mutation_p.G163S|TUB_ENST00000305253.4_Missense_Mutation_p.G212S	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	157					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TCTGACTGTGGGCCAGTCAGA	0.662																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(634-636)Ggc>Agc		tubby bipartite transcription factor							28.0	30.0	30.0					11																	8117116		2201	4293	6494	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8117116G>A	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.469G>A	11.37:g.8117116G>A	ENSP00000299506:p.Gly157Ser					TUB_ENST00000534099.1_Missense_Mutation_p.G163S|TUB_ENST00000299506.2_Missense_Mutation_p.G157S	p.G212S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	6	875	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	157					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.634G>A	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149877	0.78001	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86030	-2.0;-2.06;-2.0	5.38	5.38	0.77491	Tubby, N-terminal (1);	0.048878	0.85682	D	0.000000	D	0.87313	0.6146	L	0.28192	0.835	0.80722	D	1	D;P;D	0.89917	0.999;0.866;1.0	D;B;D	0.77004	0.922;0.252;0.989	D	0.85000	0.0899	10	0.24483	T	0.36	0.051	17.8888	0.88865	0.0:0.0:1.0:0.0	.	163;157;212	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	S	163;212;157	ENSP00000434400:G163S;ENSP00000305426:G212S;ENSP00000299506:G157S	ENSP00000299506:G157S	G	+	1	0	TUB	8073692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.962000	0.87912	2.531000	0.85337	0.561000	0.74099	GGC		0.662	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		5	165	0	0	0	1	0	5	165				
BRWD1	54014	broad.mit.edu	37	21	40646333	40646333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40646333C>T	ENST00000333229.2	-	13	1538	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	BRWD1_ENST00000342449.3_Missense_Mutation_p.S404N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S404N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	404					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAATAAAATGCTCCTCCATTC	0.413																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(1210-1212)aGc>aAc		bromodomain and WD repeat domain containing 1							209.0	166.0	181.0					21																	40646333		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40646333C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1211G>A	21.37:g.40646333C>T	ENSP00000330753:p.Ser404Asn					BRWD1_ENST00000333229.2_Missense_Mutation_p.S404N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S404N	p.S404N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			13	1289	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	404					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1211G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076531	0.55753	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.18338	2.22;2.22;2.22	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.59436	1.845	0.80722	D	1	B;B;B	0.32753	0.006;0.383;0.128	B;B;B	0.36186	0.006;0.219;0.045	T	0.01371	-1.1372	10	0.48119	T	0.1	-7.0897	14.6863	0.69052	0.0:0.9286:0.0:0.0714	.	115;404;404	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	N	404	ENSP00000330753:S404N;ENSP00000344333:S404N;ENSP00000370178:S404N	ENSP00000330753:S404N	S	-	2	0	BRWD1	39568203	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.530000	0.60595	2.626000	0.88956	0.484000	0.47621	AGC		0.413	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		9	413	0	0	0	1	0	9	413				
INTS5	80789	broad.mit.edu	37	11	62417472	62417472	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417472C>A	ENST00000330574.2	-	2	133		c.e2-1		RP11-831H9.11_ENST00000528405.1_Splice_Site	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5						snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTCCTGAGCACTACAAGGAAG	0.463																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.e2-1		integrator complex subunit 5							43.0	46.0	45.0					11																	62417472		2202	4298	6500	SO:0001630	splice_region_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417472C>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.81-1G>T	11.37:g.62417472C>A						RP11-831H9.11_ENST00000528405.1_Splice_Site		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	133	-								Q8N6W5|Q9C0G5	Splice_Site	SNP	ENST00000330574.2	37		CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634124	0.67130	.	.	ENSG00000185085;ENSG00000255432	ENST00000330574;ENST00000528405	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.158	0.81680	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS5;RP11-831H9.11	62174048	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.305000	0.78891	2.403000	0.81681	0.561000	0.74099	.		0.463	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628	Intron	45	175	1	0	6.48837e-15	1	7.06796e-15	45	175				
LRCH1	23143	broad.mit.edu	37	13	47255891	47255891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47255891G>A	ENST00000389798.3	+	4	792	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LRCH1_ENST00000311191.6_Missense_Mutation_p.E199K|LRCH1_ENST00000389797.3_Missense_Mutation_p.E199K	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGCAACGAGATCACAGC	0.368																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(595-597)Gag>Aag		leucine-rich repeats and calponin homology (CH) domain containing 1							70.0	69.0	70.0					13																	47255891		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47255891G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.595G>A	13.37:g.47255891G>A	ENSP00000374448:p.Glu199Lys					LRCH1_ENST00000389797.3_Missense_Mutation_p.E199K|LRCH1_ENST00000389798.3_Missense_Mutation_p.E199K	p.E199K	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	4	824	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	199					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.595G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.591442	0.86851	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56444	0.46;0.46;0.46	5.58	5.58	0.84498	.	0.182364	0.49916	D	0.000131	T	0.44222	0.1283	N	0.04203	-0.255	0.58432	D	0.999997	P;D;P;B	0.64830	0.934;0.994;0.919;0.372	B;P;B;B	0.50970	0.446;0.655;0.318;0.168	T	0.56763	-0.7925	10	0.62326	D	0.03	-12.7124	18.6246	0.91333	0.0:0.0:1.0:0.0	.	199;199;199;199	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	K	199	ENSP00000308493:E199K;ENSP00000374448:E199K;ENSP00000374447:E199K	ENSP00000308493:E199K	E	+	1	0	LRCH1	46153892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.167000	0.94773	2.645000	0.89757	0.538000	0.68166	GAG		0.368	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		31	163	0	0	0	1	0	31	163				
PLCXD1	55344	broad.mit.edu	37	X	207360	207360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:207360G>T	ENST00000381657.2	+	4	824	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y|PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y|PLCXD1_ENST00000484611.2_3'UTR	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	104	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGTACCTGGACCTGCGGAT	0.652																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(310-312)Gac>Tac		phosphatidylinositol-specific phospholipase C, X domain containing 1							218.0	185.0	196.0					X																	207360		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:207360G>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.310G>T	X.37:g.207360G>T	ENSP00000371073:p.Asp104Tyr					PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y|PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y|PLCXD1_ENST00000484611.2_3'UTR	p.D104Y	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			4	824	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	104			PI-PLC X-box.		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.310G>T	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.582150	0.46006	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472;ENST00000448477	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	2.14	2.14	0.27477	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	U	0.000000	T	0.78233	0.4251	.	.	.	0.09310	N	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.67507	-0.5653	9	0.87932	D	0	.	9.9412	0.41580	0.0:0.0:1.0:0.0	.	104	Q9NUJ7	PLCX1_HUMAN	Y	104	ENSP00000381976:D104Y;ENSP00000394848:D104Y;ENSP00000371073:D104Y;ENSP00000371079:D104Y;ENSP00000399510:D104Y;ENSP00000405307:D104Y	ENSP00000371073:D104Y	D	+	1	0	PLCXD1	147360	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	5.465000	0.66725	0.876000	0.35872	0.398000	0.26397	GAC		0.652	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		66	213	1	0	5.45122e-27	1	6.30096e-27	66	213				
FBXO27	126433	broad.mit.edu	37	19	39517624	39517624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39517624G>A	ENST00000292853.4	-	5	713	c.594C>T	c.(592-594)agC>agT	p.S198S	FBXO27_ENST00000600828.1_Silent_p.S197S|FBXO27_ENST00000509137.2_Silent_p.S198S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	198	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACATACAGCCGCTGTCGTGTC	0.562																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(592-594)agC>agT		F-box protein 27							122.0	118.0	120.0					19																	39517624		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517624G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.594C>T	19.37:g.39517624G>A						FBXO27_ENST00000509137.2_Silent_p.S198S|FBXO27_ENST00000600828.1_Silent_p.S197S	p.S198S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	713	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		198			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.594C>T	CCDS12527.1																																																																																				0.562	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			110	572	0	0	0	1	0	110	572				
ZNF106	64397	broad.mit.edu	37	15	42717205	42717205	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42717205T>C	ENST00000263805.4	-	13	5274	c.4948A>G	c.(4948-4950)Atc>Gtc	p.I1650V	ZNF106_ENST00000565380.1_Missense_Mutation_p.I878V|ZNF106_ENST00000565611.1_Missense_Mutation_p.I835V|RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565660.1_5'Flank	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	1650					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)										CATTCAAAGATCTCAAGTCGT	0.448																																						ENST00000263805.4																			0											c.(4948-4950)Atc>Gtc		zinc finger protein 106							69.0	64.0	66.0					15																	42717205		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42717205T>C	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.4948A>G	15.37:g.42717205T>C	ENSP00000263805:p.Ile1650Val					ZNF106_ENST00000565380.1_Missense_Mutation_p.I878V|ZNF106_ENST00000565611.1_Missense_Mutation_p.I835V	p.I1650V	NM_022473.1	NP_071918.1					13	5274	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.4948A>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	1.399	-0.578695	0.03854	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.16897	2.31	5.53	-0.691	0.11305	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.369265	0.31566	N	0.007432	T	0.04497	0.0123	N	0.01576	-0.805	0.24712	N	0.993191	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.002	T	0.42582	-0.9443	10	0.05525	T	0.97	-3.4112	11.7596	0.51894	0.0:0.4889:0.0:0.5111	.	878;1650;878	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	V	1650;878	ENSP00000263805:I1650V	ENSP00000263805:I1650V	I	-	1	0	ZFP106	40504497	0.130000	0.22417	0.106000	0.21319	0.967000	0.64934	0.440000	0.21592	-0.276000	0.09206	0.528000	0.53228	ATC		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		57	227	0	0	0	1	0	57	227				
TMPRSS9	360200	broad.mit.edu	37	19	2399065	2399065	+	Nonsense_Mutation	SNP	C	C	T	rs146863718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2399065C>T	ENST00000332578.3	+	3	286	c.286C>T	c.(286-288)Cga>Tga	p.R96*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	96					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCTGCTGCGACCCCTCCA	0.642																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(286-288)Cga>Tga		transmembrane protease, serine 9							40.0	34.0	36.0					19																	2399065		2203	4300	6503	SO:0001587	stop_gained	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2399065C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.286C>T	19.37:g.2399065C>T	ENSP00000330264:p.Arg96*						p.R96*	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	286	+			96					Q6ZND6|Q7Z411	Nonsense_Mutation	SNP	ENST00000332578.3	37	c.286C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607283	0.87157	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	.	.	.	4.34	2.08	0.27032	.	1.477610	0.04838	N	0.439921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0588	0.25113	0.0:0.7286:0.1735:0.0979	.	.	.	.	X	130;96	.	ENSP00000330264:R96X	R	+	1	2	TMPRSS9	2350065	0.001000	0.12720	0.034000	0.17996	0.869000	0.49853	1.317000	0.33631	0.372000	0.24591	0.456000	0.33151	CGA		0.642	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		18	97	0	0	0	1	0	18	97				
ARHGAP30	257106	broad.mit.edu	37	1	161017863	161017863	+	Missense_Mutation	SNP	C	C	T	rs376108588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161017863C>T	ENST00000368013.3	-	12	3268	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	983					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCGAGAAGCTCGGGACCCCCA	0.592																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2947-2949)cGa>cAa		Rho GTPase activating protein 30		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	62.0	73.0	70.0		2948,2315	3.7	1.0	1		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	983/1102,772/891	161017863	1,13005	2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161017863C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2948G>A	1.37:g.161017863C>T	ENSP00000356992:p.Arg983Gln					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q	p.R983Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	3268	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		983					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.2948G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190700	0.58017	0.0	1.16E-4	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.37584	2.63;2.73;1.19	4.57	3.65	0.41850	.	0.000000	0.37955	N	0.001863	T	0.41328	0.1154	M	0.71581	2.175	0.27381	N	0.95541	D;P	0.89917	1.0;0.614	D;B	0.76575	0.988;0.074	T	0.26224	-1.0109	10	0.44086	T	0.13	.	10.1311	0.42680	0.0:0.8997:0.0:0.1003	.	983;772	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	Q	772;983;806	ENSP00000356995:R772Q;ENSP00000356992:R983Q;ENSP00000356994:R806Q	ENSP00000356992:R983Q	R	-	2	0	ARHGAP30	159284487	0.847000	0.29606	0.984000	0.44739	0.632000	0.37999	2.145000	0.42207	0.890000	0.36211	0.455000	0.32223	CGA		0.592	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		131	569	0	0	0	1	0	131	569				
NEURL3	93082	broad.mit.edu	37	2	97165184	97165184	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97165184G>T	ENST00000310865.3	-	0	754							A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 3						Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)										CTGGCTGTGGGATCTGAGGCA	0.632																																						ENST00000310865.3																			0													neuralized E3 ubiquitin protein ligase 3							64.0	69.0	67.0					2																	97165184		1944	4131	6075			93082							g.chr2:97165184G>T		CCDS74541.1, CCDS74542.1	2q11.2	2013-10-24	2013-10-24		ENSG00000163121	ENSG00000163121			25162	protein-coding gene	gene with protein product			"""neuralized homolog 3 (Drosophila) pseudogene"""			15936721	Standard	NM_001285486		Approved	Lincr, LOC93082	uc010yuo.2	Q96EH8	OTTHUMG00000128645		2.37:g.97165184G>T														0	754	-								C9DQJ5|C9DQJ6|C9DQJ7	RNA	SNP	ENST00000310865.3	37																																																																																						0.632	NEURL3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000250521.1	NM_138397		53	269	1	0	1.54043e-34	1	1.83271e-34	53	269				
SNX18	112574	broad.mit.edu	37	5	53814741	53814741	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53814741A>G	ENST00000326277.3	+	1	1149	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	SNX18_ENST00000343017.6_Missense_Mutation_p.Y320C|SNX18_ENST00000381410.4_Missense_Mutation_p.Y320C	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	320	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GACTGGCTGTACGCGCGCCTG	0.627																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(958-960)tAc>tGc		sorting nexin 18							46.0	44.0	45.0					5																	53814741		2203	4300	6503	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814741A>G	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.959A>G	5.37:g.53814741A>G	ENSP00000317332:p.Tyr320Cys					SNX18_ENST00000326277.3_Missense_Mutation_p.Y320C|SNX18_ENST00000381410.4_Missense_Mutation_p.Y320C	p.Y320C	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	1153	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	320			PX.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.959A>G	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161752	0.38119	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.39997	1.05;1.05;1.05	4.8	2.33	0.28932	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.92738	3.34	0.53005	D	0.999964	D;D	0.76494	0.997;0.999	D;D	0.79108	0.911;0.992	T	0.68243	-0.5460	10	0.87932	D	0	-19.6997	8.0741	0.30706	0.7244:0.1411:0.0:0.1345	.	320;320	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	C	320	ENSP00000342276:Y320C;ENSP00000370817:Y320C;ENSP00000317332:Y320C	ENSP00000317332:Y320C	Y	+	2	0	SNX18	53850498	1.000000	0.71417	0.298000	0.25002	0.377000	0.30045	9.121000	0.94375	0.309000	0.22966	-0.472000	0.04984	TAC		0.627	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			45	214	0	0	0	1	0	45	214				
CSDE1	7812	broad.mit.edu	37	1	115272969	115272969	+	Silent	SNP	G	G	A	rs147370534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272969G>A	ENST00000358528.4	-	12	1692	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	CSDE1_ENST00000438362.2_Silent_p.S468S|CSDE1_ENST00000339438.6_Silent_p.S391S|CSDE1_ENST00000369530.1_Silent_p.S437S|CSDE1_ENST00000534699.1_Silent_p.S422S|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000261443.5_Silent_p.S391S|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	422					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCTGAATGGGAATGAAATG	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16459	0.0		0.001	False		,,,				2504	0.0					ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1402-1404)tcC>tcT		cold shock domain containing E1, RNA-binding							101.0	107.0	105.0					1																	115272969		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272969G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1266C>T	1.37:g.115272969G>A						CSDE1_ENST00000339438.6_Silent_p.S391S|CSDE1_ENST00000369530.1_Silent_p.S437S|CSDE1_ENST00000261443.5_Silent_p.S391S|CSDE1_ENST00000358528.4_Silent_p.S422S|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000534699.1_Silent_p.S422S	p.S468S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1782	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	422			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.1404C>T	CCDS30812.1																																																																																				0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		84	334	0	0	0	1	0	84	334				
PRRC1	133619	broad.mit.edu	37	5	126887430	126887430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887430T>G	ENST00000296666.8	+	9	1348	c.1160T>G	c.(1159-1161)cTg>cGg	p.L387R	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R|PRRC1_ENST00000513427.1_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	387						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GACTATAATCTGAGGTGGTCA	0.408																																						ENST00000296666.8																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1159-1161)cTg>cGg		proline-rich coiled-coil 1							74.0	77.0	76.0					5																	126887430		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126887430T>G	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1160T>G	5.37:g.126887430T>G	ENSP00000296666:p.Leu387Arg					PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R	p.L387R	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	9	1348	+		Prostate(80;0.165)	387					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.1160T>G	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470550	0.84533	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.77987	0.4213	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.81050	-0.1108	9	0.87932	D	0	-15.0353	14.3682	0.66820	0.0:0.0:0.0:1.0	.	387	Q96M27	PRRC1_HUMAN	R	387	.	ENSP00000296666:L387R	L	+	2	0	PRRC1	126915329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.170000	0.68504	0.455000	0.32223	CTG		0.408	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		7	293	0	0	0	1	0	7	293				
MSLNL	401827	broad.mit.edu	37	16	819456	819456	+	Missense_Mutation	SNP	C	C	T	rs377582247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:819456C>T	ENST00000442466.1	-	15	2080	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	MSLNL_ENST00000293892.3_Missense_Mutation_p.R1045H|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	694					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCCAAGTGGGCGTCCAGCTGA	0.632																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(3133-3135)cGc>cAc		mesothelin-like							68.0	80.0	76.0					16																	819456		2049	4192	6241	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:819456C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.2081G>A	16.37:g.819456C>T	ENSP00000415767:p.Arg694His					MSLNL_ENST00000442466.1_Missense_Mutation_p.R694H	p.R1045H			Q96KJ4	MSLNL_HUMAN			16	3133	-			694						Missense_Mutation	SNP	ENST00000442466.1	37	c.3134G>A		.	.	.	.	.	.	.	.	.	.	C	3.391	-0.124381	0.06795	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.19938	2.11;2.51;2.12	2.98	-5.47	0.02600	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	B	0.21452	0.056	B	0.04013	0.001	T	0.31806	-0.9930	8	0.87932	D	0	.	4.8329	0.13449	0.0:0.2008:0.3172:0.482	.	694	Q96KJ4	MSLNL_HUMAN	H	744;694;1045	ENSP00000441381:R744H;ENSP00000415767:R694H;ENSP00000293892:R1045H	ENSP00000293892:R1045H	R	-	2	0	MSLNL	759457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.901000	0.00338	-1.098000	0.03038	-0.693000	0.03709	CGC		0.632	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		74	281	0	0	0	1	0	74	281				
LAMA4	3910	broad.mit.edu	37	6	112440429	112440429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112440429G>A	ENST00000230538.7	-	34	5148	c.4751C>T	c.(4750-4752)gCt>gTt	p.A1584V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1584	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCCAGGTAGCTTCAGTAGG	0.473																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4750-4752)gCt>gTt		laminin, alpha 4							124.0	118.0	120.0					6																	112440429		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112440429G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4751C>T	6.37:g.112440429G>A	ENSP00000230538:p.Ala1584Val					LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V	p.A1584V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	34	5148	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1584			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4751C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992833	0.18966	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.69	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.564410	0.19944	N	0.102587	T	0.29093	0.0723	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.004	T	0.18999	-1.0319	10	0.26408	T	0.33	.	4.9725	0.14123	0.2293:0.0:0.5884:0.1824	.	1584;1577	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1584;1577;1577;1577	ENSP00000230538:A1584V;ENSP00000429488:A1577V;ENSP00000374114:A1577V;ENSP00000416470:A1577V	ENSP00000230538:A1584V	A	-	2	0	LAMA4	112547122	0.023000	0.18921	0.278000	0.24718	0.904000	0.53231	1.616000	0.36933	0.775000	0.33450	-0.263000	0.10527	GCT		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		99	408	0	0	0	1	0	99	408				
RTP4	64108	broad.mit.edu	37	3	187088613	187088613	+	Missense_Mutation	SNP	G	G	A	rs142974092	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187088613G>A	ENST00000259030.2	+	2	303	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	65					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTGGGCTTCCGCCCAAGTGCA	0.552													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19553	0.0		0.0	False		,,,				2504	0.0					ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(193-195)Gcc>Acc		receptor (chemosensory) transporter protein 4		G	THR/ALA	27,4379	33.5+/-64.1	0,27,2176	53.0	47.0	49.0		193	3.0	0.2	3	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RTP4	NM_022147.2	58	0,29,6474	AA,AG,GG		0.0233,0.6128,0.223	probably-damaging	65/247	187088613	29,12977	2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187088613G>A	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.193G>A	3.37:g.187088613G>A	ENSP00000259030:p.Ala65Thr						p.A65T	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	303	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		65					Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.193G>A	CCDS33910.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.44	2.237428	0.39498	0.006128	2.33E-4	ENSG00000136514	ENST00000259030	T	0.24350	1.86	3.89	3.0	0.34707	.	0.167493	0.52532	D	0.000073	T	0.40473	0.1118	M	0.82823	2.61	0.21290	N	0.999739	D	0.89917	1.0	D	0.78314	0.991	T	0.19386	-1.0307	10	0.45353	T	0.12	-19.4826	8.8881	0.35416	0.0:0.0:0.7776:0.2224	.	65	Q96DX8	RTP4_HUMAN	T	65	ENSP00000259030:A65T	ENSP00000259030:A65T	A	+	1	0	RTP4	188571307	0.942000	0.31987	0.177000	0.23020	0.036000	0.12997	5.311000	0.65786	1.213000	0.43380	0.655000	0.94253	GCC		0.552	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		9	154	0	0	0	1	0	9	154				
TNC	3371	broad.mit.edu	37	9	117848462	117848462	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848462G>A	ENST00000350763.4	-	3	1959	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C|TNC_ENST00000537320.1_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	516	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTCACAGACGCACTGTCCGT	0.612																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1546-1548)tgC>tgT		tenascin C							89.0	78.0	82.0					9																	117848462		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848462G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1548C>T	9.37:g.117848462G>A						TNC_ENST00000537320.1_Silent_p.C516C|TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C|TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C	p.C516C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1959	-			516			EGF-like 12.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.1548C>T	CCDS6811.1																																																																																				0.612	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		75	373	0	0	0	1	0	75	373				
KDELC2	143888	broad.mit.edu	37	11	108356977	108356977	+	Silent	SNP	C	C	T	rs145604569	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108356977C>T	ENST00000323468.5	-	3	656	c.591G>A	c.(589-591)acG>acA	p.T197T	KDELC2_ENST00000375648.1_Silent_p.T141T|KDELC2_ENST00000434945.2_Silent_p.T141T|KDELC2_ENST00000532730.1_5'Flank	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	197						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TATTGAGAATCGTGTAATGAA	0.398													C|||	10	0.00199681	0.0	0.0	5008	,	,		19490	0.0099		0.0	False		,,,				2504	0.0					ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(421-423)acG>acA		KDEL (Lys-Asp-Glu-Leu) containing 2							182.0	164.0	170.0					11																	108356977		1858	4092	5950	SO:0001819	synonymous_variant	143888					endoplasmic reticulum lumen		g.chr11:108356977C>T	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.591G>A	11.37:g.108356977C>T						KDELC2_ENST00000323468.5_Silent_p.T197T|KDELC2_ENST00000375648.1_Silent_p.T141T	p.T141T			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	2	725	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	197					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	c.423G>A	CCDS41711.1																																																																																				0.398	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		94	435	0	0	0	1	0	94	435				
MED13	9969	broad.mit.edu	37	17	60062374	60062374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60062374C>T	ENST00000397786.2	-	13	2539	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	821					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCAAGATAACGGGTCCAGAT	0.378																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2461-2463)ccG>ccA		mediator complex subunit 13							208.0	194.0	198.0					17																	60062374		1843	4090	5933	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60062374C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2463G>A	17.37:g.60062374C>T							p.P821P	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			13	2539	-			821					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.2463G>A	CCDS42366.1																																																																																				0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		115	600	0	0	0	1	0	115	600				
TINAG	27283	broad.mit.edu	37	6	54173618	54173618	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173618A>C	ENST00000259782.4	+	1	366	c.270A>C	c.(268-270)gaA>gaC	p.E90D	TINAG_ENST00000370869.3_Missense_Mutation_p.E86D|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.E72D	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	90	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTGACAGAGAAAATTCTGATT	0.453																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(268-270)gaA>gaC		tubulointerstitial nephritis antigen							197.0	187.0	191.0					6																	54173618		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173618A>C	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.270A>C	6.37:g.54173618A>C	ENSP00000259782:p.Glu90Asp					TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.E72D|TINAG_ENST00000370869.3_Missense_Mutation_p.E86D	p.E90D	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	366	+	Lung NSC(77;0.0518)		90			SMB.		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.270A>C	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	A	7.050	0.564316	0.13498	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.41758	0.99;0.99;0.99	5.09	1.03	0.20045	Somatomedin B domain (4);	0.300007	0.29185	N	0.012887	T	0.06416	0.0165	N	0.19112	0.55	0.23391	N	0.997775	B;B	0.09022	0.001;0.002	B;B	0.16289	0.011;0.015	T	0.40534	-0.9558	10	0.07175	T	0.84	.	5.8169	0.18497	0.4518:0.4473:0.1009:0.0	.	90;90	Q9UJW2;Q7Z477	TINAG_HUMAN;.	D	86;90;90;72	ENSP00000359906:E86D;ENSP00000259782:E90D;ENSP00000359901:E72D	ENSP00000259782:E90D	E	+	3	2	TINAG	54281577	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	0.602000	0.24134	-0.085000	0.12573	0.402000	0.26972	GAA		0.453	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		112	475	0	0	0	1	0	112	475				
MYEF2	50804	broad.mit.edu	37	15	48441415	48441415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48441415C>T	ENST00000324324.7	-	15	1811	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	511	Gly-rich.				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)		CATTCCGCTTCCCATTGGACC	0.393																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1531-1533)gGa>gAa		myelin expression factor 2							118.0	117.0	118.0					15																	48441415		2198	4296	6494	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48441415C>T	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.1532G>A	15.37:g.48441415C>T	ENSP00000316950:p.Gly511Glu					MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	p.G511E	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	15	1811	-		all_lung(180;0.00217)	511			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1532G>A	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417490	0.62622	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.26660	2.21;1.72	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.65573	0.936;0.864	T	0.38929	-0.9638	10	0.72032	D	0.01	-10.7172	18.4822	0.90817	0.0:1.0:0.0:0.0	.	487;511	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	511;487;99	ENSP00000316950:G511E;ENSP00000267836:G487E	ENSP00000267836:G487E	G	-	2	0	MYEF2	46228707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.477000	0.60223	2.539000	0.85634	0.585000	0.79938	GGA		0.393	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		132	551	0	0	0	1	0	132	551				
ZFYVE9	9372	broad.mit.edu	37	1	52703750	52703750	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703750A>C	ENST00000371591.1	+	3	792	c.661A>C	c.(661-663)Aca>Cca	p.T221P	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.T221P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	221					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAGACCGAAAACAGAGGGGAG	0.373																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(661-663)Aca>Cca		zinc finger, FYVE domain containing 9							89.0	92.0	91.0					1																	52703750		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703750A>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.661A>C	1.37:g.52703750A>C	ENSP00000360647:p.Thr221Pro					ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.T221P|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.T221P	p.T221P	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	833	+			221					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.661A>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	0.335	-0.953594	0.02285	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.12	-9.75	0.00506	.	0.651366	0.13926	N	0.353228	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.05257	-1.0896	10	0.33940	T	0.23	.	1.5073	0.02489	0.2786:0.1846:0.3538:0.183	.	221;221;221	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	P	221	ENSP00000349737:T221P;ENSP00000355358:T221P;ENSP00000287727:T221P;ENSP00000360647:T221P	ENSP00000287727:T221P	T	+	1	0	ZFYVE9	52476338	0.000000	0.05858	0.042000	0.18584	0.020000	0.10135	-1.926000	0.01562	-1.906000	0.01089	-1.410000	0.01125	ACA		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		58	486	0	0	0	1	0	58	486				
SLC2A10	81031	broad.mit.edu	37	20	45354819	45354819	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45354819G>A	ENST00000359271.2	+	2	1394	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	382					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAGATCTGGAGACCCCTCAGC	0.637																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1144-1146)Gac>Aac		solute carrier family 2 (facilitated glucose transporter), member 10							68.0	67.0	67.0					20																	45354819		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354819G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1144G>A	20.37:g.45354819G>A	ENSP00000352216:p.Asp382Asn						p.D382N	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	1394	+		Myeloproliferative disorder(115;0.0122)	382					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.1144G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495024	0.12702	.	.	ENSG00000197496	ENST00000359271	D	0.81499	-1.5	5.75	-0.0688	0.13754	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.765990	0.01175	N	0.006943	T	0.65112	0.2660	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52335	-0.8589	10	0.16896	T	0.51	5.2667	11.1698	0.48565	0.4681:0.0:0.5319:0.0	.	382	O95528	GTR10_HUMAN	N	382	ENSP00000352216:D382N	ENSP00000352216:D382N	D	+	1	0	SLC2A10	44788226	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.638000	0.24674	0.099000	0.17552	-0.126000	0.14955	GAC		0.637	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			44	288	0	0	0	1	0	44	288				
PDZD2	23037	broad.mit.edu	37	5	32087337	32087337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32087337G>A	ENST00000438447.1	+	20	4171	c.3783G>A	c.(3781-3783)cgG>cgA	p.R1261R	PDZD2_ENST00000282493.3_Silent_p.R1261R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1261					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGTCAGTCGGCCAGAGAATC	0.637																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3781-3783)cgG>cgA		PDZ domain containing 2							62.0	71.0	68.0					5																	32087337		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087337G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3783G>A	5.37:g.32087337G>A						PDZD2_ENST00000282493.3_Silent_p.R1261R	p.R1261R			O15018	PDZD2_HUMAN			20	4171	+			1261					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.3783G>A	CCDS34137.1																																																																																				0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			98	546	0	0	0	1	0	98	546				
DSCAM	1826	broad.mit.edu	37	21	41452251	41452251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41452251G>T	ENST00000400454.1	-	25	4725	c.4248C>A	c.(4246-4248)taC>taA	p.Y1416*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1416	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTCCTCGGAGTACTGCAGTA	0.453																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4246-4248)taC>taA		Down syndrome cell adhesion molecule							79.0	75.0	76.0					21																	41452251		1938	4135	6073	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41452251G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4248C>A	21.37:g.41452251G>T	ENSP00000383303:p.Tyr1416*						p.Y1416*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			25	4725	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1416			Fibronectin type-III 5.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.4248C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	38	6.695044	0.97768	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.28	0.893	0.19236	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5629	0.45156	0.3606:0.0:0.6394:0.0	.	.	.	.	X	1416;1168	.	ENSP00000383303:Y1416X	Y	-	3	2	DSCAM	40374121	1.000000	0.71417	0.956000	0.39512	0.106000	0.19336	0.816000	0.27267	-0.147000	0.11254	-0.244000	0.11960	TAC		0.453	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	205	1	0	1.12685e-05	1	1.15515e-05	9	205				
ANKK1	255239	broad.mit.edu	37	11	113267969	113267969	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113267969C>A	ENST00000303941.3	+	6	956	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L288L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACAGACATACTGCTGTCACT	0.587																																						ENST00000303941.3																			1	Substitution - coding silent(1)	p.L288L(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(862-864)Ctg>Atg		ankyrin repeat and kinase domain containing 1							61.0	64.0	63.0					11																	113267969		2136	4237	6373	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113267969C>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.862C>A	11.37:g.113267969C>A	ENSP00000306678:p.Leu288Met						p.L288M	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	6	956	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	288			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.862C>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816348	0.32145	.	.	ENSG00000170209	ENST00000303941	T	0.76448	-1.02	4.8	3.88	0.44766	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.355271	0.19070	N	0.123526	T	0.80874	0.4707	L	0.38838	1.175	0.39011	D	0.959556	D	0.71674	0.998	D	0.66196	0.942	T	0.81226	-0.1029	10	0.46703	T	0.11	-7.9202	12.6573	0.56793	0.0:0.8342:0.1658:0.0	.	288	Q8NFD2	ANKK1_HUMAN	M	288	ENSP00000306678:L288M	ENSP00000306678:L288M	L	+	1	2	ANKK1	112773179	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.186000	0.32078	1.218000	0.43458	-0.304000	0.09214	CTG		0.587	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		43	130	1	0	4.42602e-33	1	5.23957e-33	43	130				
ZNF567	163081	broad.mit.edu	37	19	37211001	37211001	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211001C>T	ENST00000536254.2	+	6	1597	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	ZNF567_ENST00000585696.1_Missense_Mutation_p.R428C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCCTTCCGCCAGAAGAC	0.433																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1282-1284)Cgc>Tgc		zinc finger protein 567							75.0	79.0	78.0					19																	37211001		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211001C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1375C>T	19.37:g.37211001C>T	ENSP00000441838:p.Arg459Cys					ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000536254.2_Missense_Mutation_p.R459C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C	p.R428C			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2512	+	Esophageal squamous(110;0.198)		459					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1282C>T		.	.	.	.	.	.	.	.	.	.	C	11.59	1.685383	0.29872	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.88	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152893	0.31177	N	0.008105	T	0.43634	0.1256	M	0.63169	1.94	0.39029	D	0.959897	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.35674	-0.9779	10	0.28530	T	0.3	.	7.109	0.25380	0.0:0.5528:0.3555:0.0917	.	459;428	Q8N184;F8WEL6	ZN567_HUMAN;.	C	459;403;428;458;428	ENSP00000441838:R459C;ENSP00000353957:R428C;ENSP00000376003:R428C	ENSP00000353957:R428C	R	+	1	0	ZNF567	41902841	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	-0.376000	0.07465	0.725000	0.32318	0.561000	0.74099	CGC		0.433	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		72	307	0	0	0	1	0	72	307				
KIAA0100	9703	broad.mit.edu	37	17	26943182	26943182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943182G>A	ENST00000528896.2	-	37	6396	c.6322C>T	c.(6322-6324)Cga>Tga	p.R2108*	RP11-192H23.4_ENST00000577790.1_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2108						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGGCAGCTCGCTCTTTCATC	0.478																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6322-6324)Cga>Tga		KIAA0100							84.0	68.0	73.0					17																	26943182		2203	4300	6503	SO:0001587	stop_gained	9703					extracellular region		g.chr17:26943182G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6322C>T	17.37:g.26943182G>A	ENSP00000436773:p.Arg2108*					KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*	p.R2108*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			37	6396	-	Lung NSC(42;0.00431)		2108					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	c.6322C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	47	13.572001	0.99750	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.63	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4692	0.61273	0.0:0.0:0.715:0.285	.	.	.	.	X	2108;2078;2108;1965	.	ENSP00000005905:R2108X	R	-	1	2	KIAA0100	23967309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	1.333000	0.45449	0.655000	0.94253	CGA		0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		47	209	0	0	0	1	0	47	209				
ACTA1	58	broad.mit.edu	37	1	229567884	229567884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229567884G>A	ENST00000366684.3	-	5	767	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	222					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GAAGTCCAGGGCCACGTAGCA	0.657																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(664-666)gCc>gTc		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						43.0	36.0	38.0					1																	229567884		2203	4299	6502	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567884G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.665C>T	1.37:g.229567884G>A	ENSP00000355645:p.Ala222Val					ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	p.A222V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			5	767	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	222					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.665C>T	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753071	0.69648	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.94613	-3.47;-3.47	4.28	4.28	0.50868	.	0.065554	0.64402	D	0.000018	D	0.97629	0.9223	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98786	1.0734	10	0.87932	D	0	.	16.8952	0.86098	0.0:0.0:1.0:0.0	.	222	P68133	ACTS_HUMAN	V	222;132;134;187	ENSP00000355645:A222V;ENSP00000355644:A134V	ENSP00000312351:A132V	A	-	2	0	ACTA1	227634507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.201000	0.70794	0.563000	0.77884	GCC		0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		40	190	0	0	0	1	0	40	190				
HECW2	57520	broad.mit.edu	37	2	197184558	197184558	+	Silent	SNP	G	G	A	rs61752163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197184558G>A	ENST00000260983.3	-	9	1238	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	352					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCGTCATCGGAAGGGCTAC	0.493																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1054-1056)tcC>tcT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							79.0	69.0	72.0					2																	197184558		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184558G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1056C>T	2.37:g.197184558G>A						HECW2_ENST00000409111.1_5'UTR	p.S352S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	1238	-			352					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.1056C>T	CCDS33354.1																																																																																				0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		55	274	0	0	0	1	0	55	274				
AMER1	139285	broad.mit.edu	37	X	63412815	63412815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63412815G>T	ENST00000330258.3	-	2	624	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	AMER1_ENST00000403336.1_Missense_Mutation_p.L118M|AMER1_ENST00000374869.3_Missense_Mutation_p.L118M	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	118					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGCAAAGGCAGGGAGAAGCCA	0.557																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(352-354)Ctg>Atg		APC membrane recruitment protein 1							93.0	69.0	77.0					X																	63412815		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63412815G>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.352C>A	X.37:g.63412815G>T	ENSP00000329117:p.Leu118Met					AMER1_ENST00000403336.1_Missense_Mutation_p.L118M|AMER1_ENST00000374869.3_Missense_Mutation_p.L118M	p.L118M	NM_152424.3	NP_689637.3					2	624	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.352C>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	7.138	0.581155	0.13686	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19394	2.15;2.15;2.15	4.59	-8.89	0.00785	.	0.929015	0.08991	N	0.864409	T	0.20577	0.0495	L	0.47716	1.5	0.09310	N	1	P	0.43542	0.81	P	0.53006	0.715	T	0.08269	-1.0730	10	0.46703	T	0.11	-0.412	2.6619	0.05029	0.5551:0.0883:0.173:0.1836	.	118	Q5JTC6	F123B_HUMAN	M	118	ENSP00000364003:L118M;ENSP00000329117:L118M;ENSP00000384722:L118M	ENSP00000329117:L118M	L	-	1	2	FAM123B	63329540	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.576000	0.05854	-2.418000	0.00566	-0.191000	0.12829	CTG		0.557	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		65	246	1	0	1.92745e-42	1	2.3466e-42	65	246				
GPR108	56927	broad.mit.edu	37	19	6733016	6733016	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733016G>T	ENST00000264080.7	-	10	941	c.915C>A	c.(913-915)atC>atA	p.I305I	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.I63I	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	305						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGAGGAGAGAGATGCTCTTGG	0.647																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(913-915)atC>atA		G protein-coupled receptor 108							17.0	20.0	19.0					19																	6733016		1993	4157	6150	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6733016G>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.915C>A	19.37:g.6733016G>T						GPR108_ENST00000430424.4_Silent_p.I63I	p.I305I	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			10	941	-			305					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.915C>A	CCDS42479.1																																																																																				0.647	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			10	73	1	0	0.000442599	1	0.000448314	10	73				
MUC5B	727897	broad.mit.edu	37	11	1272392	1272392	+	Missense_Mutation	SNP	C	C	T	rs190661408		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1272392C>T	ENST00000529681.1	+	31	14340	c.14282C>T	c.(14281-14283)aCg>aTg	p.T4761M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4764M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4761	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T4716M(1)|p.T4761M(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGTGGACCACGTGGACCGTC	0.582																																						ENST00000447027.1																			2	Substitution - Missense(2)	p.T4716M(1)|p.T4761M(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14290-14292)aCg>aTg		mucin 5B, oligomeric mucus/gel-forming		C	MET/THR	2,4342		0,2,2170	168.0	192.0	184.0		14282	-3.7	0.0	11		184	0,8500		0,0,4250	no	missense	MUC5B	NM_002458.2	81	0,2,6420	TT,TC,CC		0.0,0.046,0.0156		4761/5763	1272392	2,12842	2172	4250	6422	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272392C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14282C>T	11.37:g.1272392C>T	ENSP00000436812:p.Thr4761Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.T4761M	p.T4764M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14349	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4761			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14291C>T	CCDS44515.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	3.663|3.663	-0.069163|-0.069163	0.07228|0.07228	4.6E-4|4.6E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000535652|ENST00000529681;ENST00000447027;ENST00000349637	.|T;T	.|0.23552	.|1.9;2.08	1.83|1.83	-3.67|-3.67	0.04476|0.04476	.|.	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|P	.|0.38250	.|0.624	.|B	.|0.28139	.|0.086	T|T	0.08351|0.08351	-1.0726|-1.0726	6|9	0.54805|0.87932	T|D	0.06|0	.|.	5.0104|5.0104	0.14310|0.14310	0.4155:0.4485:0.0:0.136|0.4155:0.4485:0.0:0.136	.|.	.|4764	.|E9PBJ0	.|.	C|M	533|4761;4764;4705	.|ENSP00000436812:T4761M;ENSP00000415793:T4764M	ENSP00000439776:R533C|ENSP00000343037:T4705M	R|T	+|+	1|2	0|0	MUC5B|MUC5B	1228968|1228968	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.000000|0.000000	0.12993|0.12993	-0.953000|-0.953000	0.03645|0.03645	0.194000|0.194000	0.17425|0.17425	CGT|ACG		0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		102	439	0	0	0	1	0	102	439				
SCGB2A1	4246	broad.mit.edu	37	11	61977935	61977935	+	Missense_Mutation	SNP	G	G	A	rs145763601	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61977935G>A	ENST00000244930.4	+	2	170	c.106G>A	c.(106-108)Gac>Aac	p.D36N	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	36					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATCAATTCCGACATATCTAT	0.403													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0					ENST00000244930.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(106-108)Gac>Aac		secretoglobin, family 2A, member 1		G	ASN/ASP	11,4393	17.9+/-39.9	0,11,2191	103.0	109.0	107.0		106	-7.1	0.0	11	dbSNP_134	107	0,8598		0,0,4299	yes	missense	SCGB2A1	NM_002407.2	23	0,11,6490	AA,AG,GG		0.0,0.2498,0.0846	benign	36/96	61977935	11,12991	2202	4299	6501	SO:0001583	missense	4246					extracellular region	androgen binding	g.chr11:61977935G>A	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.106G>A	11.37:g.61977935G>A	ENSP00000244930:p.Asp36Asn						p.D36N	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN			2	170	+			36						Missense_Mutation	SNP	ENST00000244930.4	37	c.106G>A	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895658	0.17686	0.002498	0.0	ENSG00000124939	ENST00000244930	T	0.39997	1.05	3.54	-7.08	0.01558	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.36534	0.227	T	0.06552	-1.0820	8	0.19147	T	0.46	.	1.3238	0.02121	0.1647:0.3311:0.2854:0.2188	.	36	O75556	SG2A1_HUMAN	N	36	ENSP00000244930:D36N	ENSP00000244930:D36N	D	+	1	0	SCGB2A1	61734511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.952000	0.00677	-3.616000	0.00131	-0.315000	0.08773	GAC		0.403	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407		93	511	0	0	0	1	0	93	511				
PPP4R4	57718	broad.mit.edu	37	14	94725670	94725670	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94725670A>C	ENST00000304338.3	+	19	2245	c.2091A>C	c.(2089-2091)caA>caC	p.Q697H		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	697					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTTGGATCAAGAGAAAGAAA	0.274																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(2089-2091)caA>caC		protein phosphatase 4, regulatory subunit 4							27.0	29.0	28.0					14																	94725670		2189	4287	6476	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94725670A>C	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2091A>C	14.37:g.94725670A>C	ENSP00000305924:p.Gln697His						p.Q697H	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			19	2245	+			697					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.2091A>C	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326833	0.60743	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.09	3.76	0.43208	.	0.217642	0.40728	N	0.001033	T	0.69424	0.3109	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71213	-0.4659	9	0.66056	D	0.02	-13.8615	7.9117	0.29796	0.8219:0.0:0.1781:0.0	.	697	Q6NUP7	PP4R4_HUMAN	H	697	.	ENSP00000305924:Q697H	Q	+	3	2	PPP4R4	93795423	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.117000	0.41939	2.028000	0.59812	0.377000	0.23210	CAA		0.274	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		21	102	0	0	0	1	0	21	102				
C16orf59	80178	broad.mit.edu	37	16	2511088	2511088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2511088G>A	ENST00000361837.4	+	4	533	c.468G>A	c.(466-468)cgG>cgA	p.R156R	C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000483320.1_De_novo_Start_InFrame|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Silent_p.R156R	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGAGCGCCGGCTGCTGTCAG	0.697																																						ENST00000483320.1																			0				lung(1)|skin(1)|urinary_tract(1)	3								chromosome 16 open reading frame 59							26.0	30.0	29.0					16																	2511088		1959	4138	6097	SO:0001819	synonymous_variant	80178							g.chr16:2511088G>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.468G>A	16.37:g.2511088G>A						C16orf59_ENST00000361837.4_Silent_p.R156R|C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000563531.1_Silent_p.R156R				Q7L2K0	CP059_HUMAN			0	580	+		Ovarian(90;0.17)						B4DXD7|Q96H61|Q9H872	Translation_Start_Site	SNP	ENST00000361837.4	37		CCDS10468.2																																																																																				0.697	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		28	282	0	0	0	1	0	28	282				
ENPP2	5168	broad.mit.edu	37	8	120581568	120581568	+	Missense_Mutation	SNP	G	G	A	rs138793770		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120581568G>A	ENST00000075322.6	-	21	2018	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	ENPP2_ENST00000427067.2_Missense_Mutation_p.R675W|ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W|ENPP2_ENST00000522167.1_Missense_Mutation_p.R289W	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	654					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACATCAGGCCGGACGCAACTG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		16418	0.0		0.0	False		,,,				2504	0.001				Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2023-2025)Cgg>Tgg		ectonucleotide pyrophosphatase/phosphodiesterase 2		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	120.0	109.0	112.0		1960,2035,2116	4.5	1.0	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	654/864,679/889,706/916	120581568	1,13005	2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120581568G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1960C>T	8.37:g.120581568G>A	ENSP00000075322:p.Arg654Trp					ENPP2_ENST00000075322.6_Missense_Mutation_p.R654W|ENPP2_ENST00000522167.1_Missense_Mutation_p.R289W|ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W	p.R675W			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		22	2203	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		654					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2023C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560122	0.65538	0.0	1.16E-4	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.36	4.47	0.54385	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;1.0;1.0;1.0;1.0	D	0.85082	0.0946	10	0.87932	D	0	.	13.9544	0.64137	0.0:0.0:0.7101:0.2899	.	192;679;654;706;289	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	W	706;675;289;679;654	ENSP00000259486:R706W;ENSP00000403315:R675W;ENSP00000429476:R289W;ENSP00000428291:R679W;ENSP00000075322:R654W	ENSP00000075322:R654W	R	-	1	2	ENPP2	120650749	0.962000	0.33011	0.986000	0.45419	0.653000	0.38743	1.304000	0.33482	1.221000	0.43506	0.650000	0.86243	CGG		0.512	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			64	323	0	0	0	1	0	64	323				
KIRREL3	84623	broad.mit.edu	37	11	126294877	126294877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294877C>T	ENST00000525144.2	-	17	2184	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	KIRREL3_ENST00000416561.2_Silent_p.E112E|KIRREL3_ENST00000529097.2_Silent_p.E633E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	645					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGAGTGGTGCTCTTTGAAGG	0.617																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1933-1935)gaG>gaA		kin of IRRE like 3 (Drosophila)							29.0	36.0	33.0					11																	126294877		2159	4270	6429	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126294877C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1935G>A	11.37:g.126294877C>T						KIRREL3_ENST00000416561.2_Silent_p.E112E|KIRREL3_ENST00000529097.2_Silent_p.E633E	p.E645E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	17	2184	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	645					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1935G>A	CCDS53723.1																																																																																				0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		11	68	0	0	0	1	0	11	68				
EP300	2033	broad.mit.edu	37	22	41574502	41574502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41574502C>T	ENST00000263253.7	+	31	8006	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2263					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTATCAGCAGCGACTCCTTCA	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6787-6789)Cga>Tga		E1A binding protein p300							102.0	105.0	104.0					22																	41574502		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574502C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6787C>T	22.37:g.41574502C>T	ENSP00000263253:p.Arg2263*					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.R2263*	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8006	+			2263					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.6787C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	52	19.910876	0.99925	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	2.03	0.26663	.	0.000000	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-7.9992	10.9807	0.47492	0.3487:0.5422:0.1091:0.0	.	.	.	.	X	2263	.	ENSP00000263253:R2263X	R	+	1	2	EP300	39904448	0.685000	0.27652	0.997000	0.53966	0.955000	0.61496	0.242000	0.18087	0.671000	0.31185	-0.941000	0.02677	CGA		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		26	387	0	0	0	1	0	26	387				
CLIC5	53405	broad.mit.edu	37	6	45870911	45870911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45870911G>A	ENST00000185206.6	-	6	1299	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	383	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AACTCATCACGGGCATAGGCG	0.537																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(1147-1149)Cgt>Tgt		chloride intracellular channel 5							139.0	106.0	117.0					6																	45870911		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45870911G>A	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.1147C>T	6.37:g.45870911G>A	ENSP00000185206:p.Arg383Cys					CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	p.R383C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			6	1299	-			383			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.1147C>T	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519403	0.64634	.	.	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.95788	-3.81;-3.81	5.89	5.89	0.94794	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.052231	0.85682	D	0.000000	D	0.94225	0.8146	M	0.87547	2.89	0.80722	D	1	P;B	0.45715	0.865;0.195	B;B	0.39119	0.291;0.026	D	0.94849	0.8012	10	0.66056	D	0.02	.	14.1243	0.65210	0.0:0.0:0.7506:0.2494	.	383;224	Q9NZA1;Q53G01	CLIC5_HUMAN;.	C	383;224	ENSP00000185206:R383C;ENSP00000344165:R224C	ENSP00000185206:R383C	R	-	1	0	CLIC5	45978889	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.030000	0.49720	2.790000	0.95986	0.637000	0.83480	CGT		0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			56	265	0	0	0	1	0	56	265				
MYO9A	4649	broad.mit.edu	37	15	72122595	72122595	+	Missense_Mutation	SNP	G	G	A	rs371514628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72122595G>A	ENST00000356056.5	-	40	7367	c.6895C>T	c.(6895-6897)Cgg>Tgg	p.R2299W	MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2299	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAAGGCAACCGAACTACAACA	0.488																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6895-6897)Cgg>Tgg		myosin IXA		G	TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	134.0	126.0	128.0		6895	3.8	0.1	15		128	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYO9A	NM_006901.2	101	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	2299/2549	72122595	2,12990	2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72122595G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6895C>T	15.37:g.72122595G>A	ENSP00000348349:p.Arg2299Trp					MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W	p.R2299W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			40	7367	-			2299			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6895C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587506	0.66105	2.27E-4	1.16E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85556	-1.99;-2.0;-1.98	4.73	3.79	0.43588	.	.	.	.	.	D	0.84763	0.5544	L	0.60455	1.87	0.09310	N	0.999996	D;D	0.67145	0.996;0.994	B;P	0.46049	0.425;0.502	T	0.77194	-0.2677	9	0.66056	D	0.02	.	13.8244	0.63342	0.0:0.2922:0.7078:0.0	.	2299;2063	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	W	2299;2370;2280	ENSP00000348349:R2299W;ENSP00000399162:R2370W;ENSP00000398250:R2280W	ENSP00000348349:R2299W	R	-	1	2	MYO9A	69909649	0.995000	0.38212	0.088000	0.20740	0.981000	0.71138	4.128000	0.57951	1.324000	0.45282	0.655000	0.94253	CGG		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		9	487	0	0	0	1	0	9	487				
CAPN11	11131	broad.mit.edu	37	6	44148732	44148732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44148732G>A	ENST00000398776.1	+	18	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D623N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	623	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAACCTCATGGATGTATCCTC	0.592																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1867-1869)Gat>Aat		calpain 11							232.0	236.0	235.0					6																	44148732		2045	4193	6238	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44148732G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1867G>A	6.37:g.44148732G>A	ENSP00000381758:p.Asp623Asn					CAPN11_ENST00000398776.1_Missense_Mutation_p.D623N	p.D623N			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		18	1905	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		623			Domain IV.|EF-hand 1.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1867G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	g	34	5.303276	0.95601	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.95949	-3.86;-3.86	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.47455	D	0.000228	D	0.98896	0.9626	H	0.99169	4.455	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	17.4776	0.87664	0.0:0.0:1.0:0.0	.	277;623	B4DT90;Q9UMQ6	.;CAN11_HUMAN	N	623	ENSP00000381758:D623N;ENSP00000441078:D623N	ENSP00000381758:D623N	D	+	1	0	CAPN11	44256710	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.616000	0.98359	2.611000	0.88343	0.493000	0.49557	GAT		0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			187	864	0	0	0	1	0	187	864				
PTPN23	25930	broad.mit.edu	37	3	47450720	47450720	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47450720C>T	ENST00000265562.4	+	17	1787	c.1710C>T	c.(1708-1710)cgC>cgT	p.R570R	PTPN23_ENST00000431726.1_Silent_p.R444R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	570					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACCAGCGCGTGTCCCTGG	0.587																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1708-1710)cgC>cgT		protein tyrosine phosphatase, non-receptor type 23							61.0	60.0	61.0					3																	47450720		2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450720C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1710C>T	3.37:g.47450720C>T						PTPN23_ENST00000431726.1_Silent_p.R444R	p.R570R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	17	1787	+			570					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.1710C>T	CCDS2754.1																																																																																				0.587	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		11	348	0	0	0	1	0	11	348				
CLEC2B	9976	broad.mit.edu	37	12	10005919	10005919	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10005919A>G	ENST00000228438.2	-	5	1363	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						CTTTTCCTGCAAATCCATTTT	0.368																																						ENST00000228438.2																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(430-432)Tgc>Cgc		C-type lectin domain family 2, member B							177.0	148.0	158.0					12																	10005919		2203	4300	6503	SO:0001583	missense	9976					integral to plasma membrane	sugar binding	g.chr12:10005919A>G	X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.430T>C	12.37:g.10005919A>G	ENSP00000228438:p.Cys144Arg					CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	p.C144R	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN			5	1363	-			144			C-type lectin.		B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	ENST00000228438.2	37	c.430T>C	CCDS8605.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657279	0.29425	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	D;D	0.97688	-4.49;-4.49	2.94	2.94	0.34122	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.47093	D	0.000257	D	0.98861	0.9615	H	0.95884	3.735	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98563	1.0642	10	0.87932	D	0	.	7.7084	0.28663	1.0:0.0:0.0:0.0	.	144	Q92478	CLC2B_HUMAN	R	144;75	ENSP00000228438:C144R;ENSP00000437946:C75R	ENSP00000228438:C144R	C	-	1	0	CLEC2B	9897186	0.996000	0.38824	0.958000	0.39756	0.154000	0.21943	2.948000	0.49066	1.604000	0.50143	0.528000	0.53228	TGC		0.368	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399881.1	NM_005127		37	161	0	0	0	1	0	37	161				
TAF1L	138474	broad.mit.edu	37	9	32634136	32634136	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32634136T>C	ENST00000242310.4	-	1	1531	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	481					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTACCAAGGTTTGTCATCATC	0.493																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1441-1443)aAa>aGa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							193.0	167.0	176.0					9																	32634136		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634136T>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1442A>G	9.37:g.32634136T>C	ENSP00000418379:p.Lys481Arg					RP11-555J4.4_ENST00000430787.1_RNA	p.K481R	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1531	-			481					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1442A>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224170	0.39300	.	.	ENSG00000122728	ENST00000242310	T	0.08282	3.11	0.479	0.479	0.16796	.	0.270402	0.37095	N	0.002249	T	0.04272	0.0118	N	0.19112	0.55	0.23232	N	0.998077	B	0.11235	0.004	B	0.10450	0.005	T	0.32561	-0.9902	10	0.48119	T	0.1	.	2.6827	0.05099	0.0:0.3869:0.0:0.6131	.	481	Q8IZX4	TAF1L_HUMAN	R	481	ENSP00000418379:K481R	ENSP00000418379:K481R	K	-	2	0	TAF1L	32624136	0.969000	0.33509	0.987000	0.45799	0.502000	0.33828	0.533000	0.23082	0.426000	0.26116	0.164000	0.16699	AAA		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			121	517	0	0	0	1	0	121	517				
TRIM8	81603	broad.mit.edu	37	10	104416127	104416127	+	Missense_Mutation	SNP	C	C	T	rs145135383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104416127C>T	ENST00000302424.7	+	5	1155	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	345					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGCAGCTGCGGAAAATGCT	0.597																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1033-1035)Cgg>Tgg		tripartite motif containing 8		C	TRP/ARG	0,4406		0,0,2203	41.0	33.0	36.0		1033	3.4	1.0	10	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIM8	NM_030912.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	345/552	104416127	1,13005	2203	4300	6503	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416127C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1033C>T	10.37:g.104416127C>T	ENSP00000302120:p.Arg345Trp					TRIM8_ENST00000487927.1_3'UTR	p.R345W	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	1155	+		Colorectal(252;0.122)	345					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.1033C>T	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842550	0.71488	0.0	1.16E-4	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79653	-1.29	5.41	3.37	0.38596	.	0.104805	0.64402	D	0.000004	T	0.75961	0.3921	N	0.24115	0.695	0.46185	D	0.998918	D	0.69078	0.997	P	0.50378	0.639	T	0.79806	-0.1648	10	0.66056	D	0.02	.	14.8214	0.70077	0.3272:0.6728:0.0:0.0	.	345	Q9BZR9	TRIM8_HUMAN	W	345;344	ENSP00000302120:R345W	ENSP00000302120:R345W	R	+	1	2	TRIM8	104406117	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.883000	0.28200	1.259000	0.44117	0.561000	0.74099	CGG		0.597	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		24	100	0	0	0	1	0	24	100				
NDNL2	56160	broad.mit.edu	37	15	29561540	29561540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29561540G>A	ENST00000332303.4	-	1	493	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	124	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AAGAGGTCGGGGAAGATGTCC	0.532																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(370-372)Ccc>Tcc		necdin-like 2							91.0	86.0	87.0					15																	29561540		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561540G>A	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.370C>T	15.37:g.29561540G>A	ENSP00000330694:p.Pro124Ser					FAM189A1_ENST00000261275.4_Intron	p.P124S	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	493	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	124			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.370C>T	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.826058	0.16749	.	.	ENSG00000185115	ENST00000332303	T	0.05199	3.48	3.8	0.771	0.18504	.	0.307886	0.30704	U	0.009044	T	0.10508	0.0257	L	0.59436	1.845	0.09310	N	0.999996	P	0.41498	0.752	P	0.51016	0.656	T	0.09164	-1.0687	10	0.48119	T	0.1	.	3.9345	0.09299	0.2245:0.1991:0.5764:0.0	.	124	Q96MG7	MAGG1_HUMAN	S	124	ENSP00000330694:P124S	ENSP00000330694:P124S	P	-	1	0	NDNL2	27348832	0.785000	0.28726	0.005000	0.12908	0.255000	0.26057	0.330000	0.19715	0.169000	0.19679	-0.251000	0.11542	CCC		0.532	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		86	476	0	0	0	1	0	86	476				
OR10H3	26532	broad.mit.edu	37	19	15852562	15852562	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852562C>T	ENST00000305892.1	+	1	360	c.360C>T	c.(358-360)ggC>ggT	p.G120G		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTCATGGGCTATGATCACT	0.522																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(358-360)ggC>ggT		olfactory receptor, family 10, subfamily H, member 3							344.0	277.0	300.0					19																	15852562		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852562C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.360C>T	19.37:g.15852562C>T							p.G120G	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	360	+			120					Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.360C>T	CCDS12334.1																																																																																				0.522	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			204	907	0	0	0	1	0	204	907				
RBFOX1	54715	broad.mit.edu	37	16	7703845	7703845	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:7703845C>A	ENST00000550418.1	+	12	1774	c.786C>A	c.(784-786)acC>acA	p.T262T	RBFOX1_ENST00000547338.1_Silent_p.T262T|RBFOX1_ENST00000340209.4_Silent_p.T267T|RBFOX1_ENST00000535565.2_Silent_p.T219T|RBFOX1_ENST00000436368.2_Silent_p.T282T|RBFOX1_ENST00000422070.4_Silent_p.T305T|RBFOX1_ENST00000311745.5_Silent_p.T282T|RBFOX1_ENST00000355637.4_Silent_p.T282T|RBFOX1_ENST00000547372.1_Silent_p.T305T|RBFOX1_ENST00000553186.1_Silent_p.T235T|RBFOX1_ENST00000552089.1_Silent_p.T279T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	262					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.T282T(2)|p.T262T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGCAGCCACCGCCGCGGCCG	0.706																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			3	Substitution - coding silent(3)	p.T282T(2)|p.T262T(1)	lung(3)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(799-801)acC>acA		RNA binding protein, fox-1 homolog (C. elegans) 1							15.0	19.0	18.0					16																	7703845		1725	3657	5382	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703845C>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.786C>A	16.37:g.7703845C>A						RBFOX1_ENST00000547372.1_Silent_p.T305T|RBFOX1_ENST00000436368.2_Silent_p.T282T|RBFOX1_ENST00000422070.4_Silent_p.T305T|RBFOX1_ENST00000553186.1_Silent_p.T235T|RBFOX1_ENST00000355637.4_Silent_p.T282T|RBFOX1_ENST00000535565.2_Silent_p.T219T|RBFOX1_ENST00000311745.5_Silent_p.T282T|RBFOX1_ENST00000550418.1_Silent_p.T262T|RBFOX1_ENST00000552089.1_Silent_p.T279T|RBFOX1_ENST00000547338.1_Silent_p.T262T	p.T267T			Q9NWB1	RFOX1_HUMAN			9	1098	+			262					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.801C>A	CCDS55983.1																																																																																				0.706	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		69	248	1	0	3.13765e-25	1	3.59736e-25	69	248				
CELSR3	1951	broad.mit.edu	37	3	48679431	48679431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48679431C>T	ENST00000164024.4	-	32	8957	c.8677G>A	c.(8677-8679)Gac>Aac	p.D2893N	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.D2898N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2893					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCAGAGTCGGAGTCTGCG	0.562																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8692-8694)Gac>Aac		cadherin, EGF LAG seven-pass G-type receptor 3							24.0	25.0	24.0					3																	48679431		2202	4289	6491	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48679431C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8677G>A	3.37:g.48679431C>T	ENSP00000164024:p.Asp2893Asn					CELSR3_ENST00000164024.4_Missense_Mutation_p.D2893N	p.D2898N			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	33	8972	-			2893					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8692G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881598	0.72294	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.80393	-1.37;-1.37	5.03	5.03	0.67393	.	.	.	.	.	D	0.90652	0.7068	M	0.82716	2.605	0.80722	D	1	P;P;D	0.89917	0.697;0.571;1.0	B;B;D	0.83275	0.103;0.048;0.996	D	0.91974	0.5589	9	0.87932	D	0	.	18.7191	0.91686	0.0:1.0:0.0:0.0	.	2898;2893;2991	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2893;2898	ENSP00000164024:D2893N;ENSP00000445694:D2898N	ENSP00000164024:D2893N	D	-	1	0	CELSR3	48654435	1.000000	0.71417	0.980000	0.43619	0.670000	0.39368	7.181000	0.77682	2.488000	0.83962	0.511000	0.50034	GAC		0.562	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		16	112	0	0	0	1	0	16	112				
YTHDF1	54915	broad.mit.edu	37	20	61834989	61834989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61834989G>A	ENST00000370339.3	-	4	644	c.303C>T	c.(301-303)caC>caT	p.H101H	YTHDF1_ENST00000370333.4_Silent_p.H51H|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	101							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AAACAGCATCGTGCATAAAAT	0.532																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(301-303)caC>caT		YTH domain family, member 1							101.0	104.0	103.0					20																	61834989		2203	4300	6503	SO:0001819	synonymous_variant	54915							g.chr20:61834989G>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.303C>T	20.37:g.61834989G>A						YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.H51H	p.H101H	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	644	-			101					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	c.303C>T	CCDS13511.1																																																																																				0.532	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		80	364	0	0	0	1	0	80	364				
TPO	7173	broad.mit.edu	37	2	1457548	1457548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1457548C>T	ENST00000345913.4	+	6	656	c.565C>T	c.(565-567)Cga>Tga	p.R189*	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*|TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	189					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGTCAGCCCCGAGGCTGGAA	0.602																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(565-567)Cga>Tga		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						50.0	55.0	53.0					2																	1457548		2203	4300	6503	SO:0001587	stop_gained	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1457548C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.565C>T	2.37:g.1457548C>T	ENSP00000318820:p.Arg189*					TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*|TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*	p.R189*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	656	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	189					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Nonsense_Mutation	SNP	ENST00000345913.4	37	c.565C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537771	0.65085	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.	.	.	5.27	-4.71	0.03279	.	0.293852	0.35970	N	0.002873	.	.	.	.	.	.	0.42641	D	0.993417	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.4783	20.418	0.99029	0.2731:0.7269:0.0:0.0	.	.	.	.	X	189;189;189;189;189;189;189;118	.	ENSP00000329869:R189X	R	+	1	2	TPO	1436555	0.006000	0.16342	0.087000	0.20705	0.615000	0.37417	1.309000	0.33539	-1.228000	0.02568	-0.474000	0.04947	CGA		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		117	364	0	0	0	1	0	117	364				
OR7D4	125958	broad.mit.edu	37	19	9325388	9325388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325388G>A	ENST00000308682.2	-	1	154	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGATGAGCAGGTTCCCCAGCA	0.527																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(124-126)aaC>aaT		olfactory receptor, family 7, subfamily D, member 4							78.0	74.0	75.0					19																	9325388		2203	4300	6503	SO:0001819	synonymous_variant	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325388G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.126C>T	19.37:g.9325388G>A							p.N42N	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	154	-			42					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	c.126C>T	CCDS32901.1																																																																																				0.527	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			105	417	0	0	0	1	0	105	417				
GRM7	2917	broad.mit.edu	37	3	6903328	6903328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903328G>A	ENST00000357716.4	+	1	527	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	GRM7_ENST00000486284.1_Missense_Mutation_p.A85T|GRM7_ENST00000402647.2_Missense_Mutation_p.A85T|GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	85					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						GATGCTCTACGCCCTGGACCA	0.632																																						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.(253-255)Gcc>Acc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						40.0	35.0	37.0					3																	6903328		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.chr3:6903328G>A	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.253G>A	3.37:g.6903328G>A	ENSP00000350348:p.Ala85Thr					GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T|GRM7_ENST00000357716.4_Missense_Mutation_p.A85T|GRM7_ENST00000402647.2_Missense_Mutation_p.A85T	p.A85T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	527	+			85					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.253G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740907	0.89573	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.95487	0.8534	L	0.56340	1.77	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.85	D;D;B	0.80764	0.99;0.994;0.343	D	0.94407	0.7628	10	0.33141	T	0.24	.	17.462	0.87622	0.0:0.0:1.0:0.0	.	85;85;85	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	T	85	ENSP00000350348:A85T;ENSP00000417536:A85T;ENSP00000373987:A85T;ENSP00000385664:A85T;ENSP00000384585:A85T	ENSP00000350348:A85T	A	+	1	0	GRM7	6878328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.649000	0.98487	2.448000	0.82819	0.563000	0.77884	GCC		0.632	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		17	113	0	0	0	1	0	17	113				
TNRC6A	27327	broad.mit.edu	37	16	24788479	24788479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24788479C>A	ENST00000395799.3	+	5	518	c.389C>A	c.(388-390)cCt>cAt	p.P130H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P130H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	130	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		cagGCCTTGCCTCGGTATCCT	0.587																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(388-390)cCt>cAt		trinucleotide repeat containing 6A							57.0	67.0	64.0					16																	24788479		2182	4294	6476	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788479C>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.389C>A	16.37:g.24788479C>A	ENSP00000379144:p.Pro130His					TNRC6A_ENST00000315183.7_Missense_Mutation_p.P130H	p.P130H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	518	+			130					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.389C>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698489	0.88830	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12147	2.71;2.71	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.30103	0.0754	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.00118	-1.2033	10	0.42905	T	0.14	-3.9194	20.3495	0.98807	0.0:1.0:0.0:0.0	.	130	Q8NDV7	TNR6A_HUMAN	H	130	ENSP00000326900:P130H;ENSP00000379144:P130H	ENSP00000326900:P130H	P	+	2	0	TNRC6A	24695980	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.043000	0.64208	2.814000	0.96858	0.591000	0.81541	CCT		0.587	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		12	620	1	0	2.27111e-07	1	2.35674e-07	12	620				
RNF10	9921	broad.mit.edu	37	12	120984244	120984244	+	Missense_Mutation	SNP	G	G	A	rs111483466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120984244G>A	ENST00000325954.4	+	2	655	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	65	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTTATAATCGCAAACGTGAA	0.418																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(193-195)cGc>cAc		ring finger protein 10							114.0	114.0	114.0					12																	120984244		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120984244G>A	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.194G>A	12.37:g.120984244G>A	ENSP00000322242:p.Arg65His					RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			2	655	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		65			Ser-rich.		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.194G>A	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322463	0.95708	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000537997	D;D	0.91295	-2.8;-2.82	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95555	0.8624	10	0.62326	D	0.03	.	18.7237	0.91705	0.0:0.0:1.0:0.0	.	65	Q8N5U6	RNF10_HUMAN	H	65;65;65;15	ENSP00000322242:R65H;ENSP00000415682:R65H	ENSP00000322242:R65H	R	+	2	0	RNF10	119468627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.049000	0.93837	2.479000	0.83701	0.655000	0.94253	CGC		0.418	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			99	387	0	0	0	1	0	99	387				
SLC45A3	85414	broad.mit.edu	37	1	205628723	205628723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205628723C>T	ENST00000367145.3	-	5	1596	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	434					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCTTAGGGCCTGGCAGGAA	0.622			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(1300-1302)gGc>gAc		solute carrier family 45, member 3							58.0	54.0	55.0					1																	205628723		2203	4300	6503	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205628723C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1301G>A	1.37:g.205628723C>T	ENSP00000356113:p.Gly434Asp		OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_ENST00000460934.1_5'UTR	p.G434D	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1596	-	Breast(84;0.07)		434					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.1301G>A	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616403	0.46736	.	.	ENSG00000158715	ENST00000367145	T	0.43688	0.94	5.16	4.18	0.49190	.	0.216749	0.39020	N	0.001486	T	0.29524	0.0736	L	0.36672	1.1	0.40475	D	0.980389	B	0.10296	0.003	B	0.08055	0.003	T	0.13656	-1.0501	10	0.37606	T	0.19	-23.9536	7.154	0.25626	0.1717:0.7401:0.0:0.0882	.	434	Q96JT2	S45A3_HUMAN	D	434	ENSP00000356113:G434D	ENSP00000356113:G434D	G	-	2	0	SLC45A3	203895346	0.395000	0.25254	0.982000	0.44146	0.967000	0.64934	1.712000	0.37940	2.401000	0.81631	0.491000	0.48974	GGC		0.622	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		43	173	0	0	0	1	0	43	173				
AGAP6	414189	broad.mit.edu	37	10	51748543	51748543	+	Missense_Mutation	SNP	C	C	T	rs544067964	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51748543C>T	ENST00000374056.4	+	1	466	c.68C>T	c.(67-69)tCg>tTg	p.S23L	AGAP6_ENST00000412531.3_Missense_Mutation_p.S23L			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	23					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAGCAGGGGTCGGTGTGTCCC	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		16063	0.0		0.0	False		,,,				2504	0.0031					ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(67-69)tCg>tTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748543C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.68C>T	10.37:g.51748543C>T	ENSP00000363168:p.Ser23Leu					AGAP6_ENST00000412531.3_Missense_Mutation_p.S23L	p.S23L			C9IYN2	C9IYN2_HUMAN			1	466	+			23						Missense_Mutation	SNP	ENST00000374056.4	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	0.060	-1.227393	0.01518	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.87966	-2.32;-2.32	1.16	1.16	0.20824	.	0.121832	0.53938	D	0.000058	T	0.69324	0.3098	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52873	-0.8517	10	0.18276	T	0.48	.	5.7414	0.18096	0.0:1.0:0.0:0.0	.	23	C9IYN2	.	L	23	ENSP00000363168:S23L;ENSP00000400972:S23L	ENSP00000363168:S23L	S	+	2	0	AGAP6	51418549	0.001000	0.12720	0.310000	0.25168	0.024000	0.10985	0.593000	0.23999	0.958000	0.37956	0.175000	0.17021	TCG		0.607	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		86	205	0	0	0	1	0	86	205				
TTN	7273	broad.mit.edu	37	2	179647028	179647028	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647028C>A	ENST00000591111.1	-	20	3515	c.3291G>T	c.(3289-3291)ggG>ggT	p.G1097G	TTN_ENST00000359218.5_Silent_p.G1051G|TTN_ENST00000460472.2_Silent_p.G1051G|TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000589042.1_Silent_p.G1097G|TTN_ENST00000342992.6_Silent_p.G1097G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.G1097G			Q8WZ42	TITIN_HUMAN	titin	33316	Ig-like 4.				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)			ACACCACGCTCCCACCTTCCA	0.498																																						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.(3289-3291)ggG>ggT		titin							76.0	74.0	75.0					2																	179647028		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647028C>A	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.3291G>T	2.37:g.179647028C>A						TTN_ENST00000360870.5_Silent_p.G1097G|TTN_ENST00000359218.5_Silent_p.G1051G|TTN_ENST00000342992.6_Silent_p.G1097G|TTN_ENST00000460472.2_Silent_p.G1051G|TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000591111.1_Silent_p.G1097G	p.G1097G	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)		20	3515	-			1097			Ig-like 4.		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.3291G>T																																																																																					0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		70	330	1	0	1.26778e-28	1	1.47706e-28	70	330				
FIP1L1	81608	broad.mit.edu	37	4	54265951	54265951	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54265951A>C	ENST00000337488.6	+	10	954	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q|FIP1L1_ENST00000507166.1_Missense_Mutation_p.K254Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	254	Necessary for stimulating PAPOLA activity.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCATCTACAAAAGCTGAGTT	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000507166.1				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(760-762)Aaa>Caa		factor interacting with PAPOLA and CPSF1							170.0	165.0	167.0					4																	54265951		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54265951A>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.760A>C	4.37:g.54265951A>C	ENSP00000336752:p.Lys254Gln					FIP1L1_ENST00000337488.6_Missense_Mutation_p.K254Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q	p.K254Q			Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		10	760	+			254			Necessary for stimulating PAPOLA activity.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.760A>C	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609676	0.87258	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.48642	1.525	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;0.999;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.996;0.985;0.997;0.999	T	0.54629	-0.8265	10	0.20046	T	0.44	-23.9796	15.6962	0.77502	1.0:0.0:0.0:0.0	.	239;58;239;216;254;239	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	Q	254;239;239;216;254	ENSP00000336752:K254Q;ENSP00000351383:K239Q;ENSP00000425456:K239Q;ENSP00000302993:K216Q;ENSP00000423325:K254Q	ENSP00000302993:K216Q	K	+	1	0	FIP1L1	53960708	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.641000	0.83368	2.168000	0.68352	0.533000	0.62120	AAA		0.388	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		67	354	0	0	0	1	0	67	354				
KLRG2	346689	broad.mit.edu	37	7	139168360	139168360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139168360C>T	ENST00000340940.4	-	1	98	c.29G>A	c.(28-30)gGa>gAa	p.G10E	KLRG2_ENST00000393039.2_Missense_Mutation_p.G10E	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	10						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GGCTTGGCCTCCGGGCGCAGC	0.711																																						ENST00000340940.4																			0				central_nervous_system(1)|large_intestine(2)|lung(3)	6						c.(28-30)gGa>gAa		killer cell lectin-like receptor subfamily G, member 2							5.0	6.0	6.0					7																	139168360		1761	3749	5510	SO:0001583	missense	346689					integral to membrane	sugar binding	g.chr7:139168360C>T	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.29G>A	7.37:g.139168360C>T	ENSP00000339356:p.Gly10Glu					KLRG2_ENST00000393039.2_Missense_Mutation_p.G10E	p.G10E	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN			1	98	-	Melanoma(164;0.233)		10					Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	c.29G>A	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	C	6.107	0.388050	0.11581	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.58797	3.38;0.31	3.01	-6.02	0.02192	.	.	.	.	.	T	0.25717	0.0626	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.33292	-0.9874	9	0.02654	T	1	0.0	4.7501	0.13056	0.0:0.2197:0.3042:0.476	.	10;10	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	E	10	ENSP00000339356:G10E;ENSP00000376759:G10E	ENSP00000339356:G10E	G	-	2	0	KLRG2	138818900	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.390000	0.02528	-1.513000	0.01789	-0.680000	0.03767	GGA		0.711	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		15	71	0	0	0	1	0	15	71				
ATF1	466	broad.mit.edu	37	12	51203316	51203316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51203316C>A	ENST00000262053.3	+	4	294	c.272C>A	c.(271-273)gCt>gAt	p.A91D	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	91					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	GTTTCTGCTGCTGTCACTTCT	0.388			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"""E, M"""	"""EWSR1, FUS"""		"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(271-273)gCt>gAt		activating transcription factor 1							83.0	87.0	86.0					12																	51203316		2203	4300	6503	SO:0001583	missense	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			g.chr12:51203316C>A	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.272C>A	12.37:g.51203316C>A	ENSP00000262053:p.Ala91Asp					ATF1_ENST00000539132.1_Intron	p.A91D	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			4	294	+			91					B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	c.272C>A	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	C	5.592	0.293949	0.10567	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	T;T;T	0.78003	-1.14;0.45;0.44	.	.	.	.	0.367899	0.30695	N	0.009070	T	0.67776	0.2929	L	0.50333	1.59	0.80722	D	1	B	0.27559	0.181	B	0.25759	0.063	T	0.60409	-0.7269	8	0.56958	D	0.05	-14.0405	.	.	.	.	91	P18846	ATF1_HUMAN	D	91	ENSP00000448592:A91D;ENSP00000262053:A91D;ENSP00000448921:A91D	ENSP00000262053:A91D	A	+	2	0	ATF1	49489583	0.996000	0.38824	0.993000	0.49108	0.975000	0.68041	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCT		0.388	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		64	306	1	0	3.37205e-40	1	4.08638e-40	64	306				
PATZ1	23598	broad.mit.edu	37	22	31731752	31731752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31731752C>T	ENST00000266269.5	-	3	2062	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	478					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTATGCTGCCCGCAAGTACTT	0.567																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1432-1434)cGg>cAg		POZ (BTB) and AT hook containing zinc finger 1							115.0	104.0	108.0					22																	31731752		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31731752C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1433G>A	22.37:g.31731752C>T	ENSP00000266269:p.Arg478Gln					RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000440456.1_RNA	p.R478Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			3	2062	-			478					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1433G>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374162	0.95923	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.11169	4.68;2.8;2.85	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.31578	0.945	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.75484	0.979;0.986;0.979	T	0.06303	-1.0834	10	0.15952	T	0.53	-17.0252	18.0252	0.89266	0.0:1.0:0.0:0.0	.	478;478;478	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	Q	478	ENSP00000266269:R478Q;ENSP00000384173:R478Q;ENSP00000337520:R478Q	ENSP00000266269:R478Q	R	-	2	0	PATZ1	30061752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	CGG		0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		64	271	0	0	0	1	0	64	271				
ZNF862	643641	broad.mit.edu	37	7	149545235	149545235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149545235G>A	ENST00000223210.4	+	4	898	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCCGGTTCCGGAGCATCAGA	0.592																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(652-654)cGg>cAg		zinc finger protein 862							52.0	55.0	54.0					7																	149545235		1949	4152	6101	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545235G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.653G>A	7.37:g.149545235G>A	ENSP00000223210:p.Arg218Gln						p.R218Q	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			4	898	+			218					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.653G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107865	0.08780	.	.	ENSG00000106479	ENST00000223210	T	0.01043	5.41	5.39	-3.5	0.04710	Zinc finger, TTF-type (1);	1.396590	0.04656	N	0.408112	T	0.00552	0.0018	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48581	-0.9023	10	0.08381	T	0.77	-2.0822	11.3389	0.49520	0.4317:0.0:0.5683:0.0	.	218	O60290	ZN862_HUMAN	Q	218	ENSP00000223210:R218Q	ENSP00000223210:R218Q	R	+	2	0	ZNF862	149176168	0.000000	0.05858	0.005000	0.12908	0.812000	0.45895	-0.803000	0.04540	-0.636000	0.05524	-0.150000	0.13652	CGG		0.592	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		44	212	0	0	0	1	0	44	212				
PPM1H	57460	broad.mit.edu	37	12	63195669	63195669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63195669C>T	ENST00000228705.6	-	3	983	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	228	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGTAAAGAAGCGTGTGGGGGG	0.642																																						ENST00000228705.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.(682-684)cGc>cAc		protein phosphatase, Mg2+/Mn2+ dependent, 1H							29.0	32.0	31.0					12																	63195669		1894	4092	5986	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63195669C>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.683G>A	12.37:g.63195669C>T	ENSP00000228705:p.Arg228His						p.R228H	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	3	983	-			228			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.683G>A	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295048	0.81025	.	.	ENSG00000111110	ENST00000228705	T	0.25579	1.79	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.51220	-0.8733	9	.	.	.	4.0024	17.2574	0.87061	0.0:1.0:0.0:0.0	.	228	Q9ULR3	PPM1H_HUMAN	H	228	ENSP00000228705:R228H	.	R	-	2	0	PPM1H	61481936	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.050000	0.76620	2.124000	0.65301	0.462000	0.41574	CGC		0.642	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		28	341	0	0	0	1	0	28	341				
SYT15	83849	broad.mit.edu	37	10	46962105	46962105	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46962105C>A	ENST00000374321.4	-	8	1197	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Missense_Mutation_p.Q430H	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	377	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCCCAGCTGCTGGCTCTCTG	0.652																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1288-1290)caG>caT		synaptotagmin XV							36.0	44.0	41.0					10																	46962105		2120	4239	6359	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46962105C>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1131G>T	10.37:g.46962105C>A	ENSP00000363441:p.Gln377His					SYT15_ENST00000374321.4_Missense_Mutation_p.Q377H|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA	p.Q430H			Q9BQS2	SYT15_HUMAN			7	1877	-			377					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.1290G>T	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.007040	0.35415	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.70282	-0.47;-0.47	4.71	-3.63	0.04529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	1.702880	0.02769	N	0.119530	T	0.37758	0.1015	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	10	0.44086	T	0.13	.	1.9877	0.03439	0.2809:0.2539:0.3579:0.1073	.	377	Q9BQS2	SYT15_HUMAN	H	216;430;377	ENSP00000363443:Q430H;ENSP00000363441:Q377H	ENSP00000363441:Q377H	Q	-	3	2	SYT15	46382111	0.000000	0.05858	0.000000	0.03702	0.715000	0.41141	-0.361000	0.07612	-0.937000	0.03719	-0.448000	0.05591	CAG		0.652	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		17	241	1	0	9.16793e-09	1	9.60025e-09	17	241				
HERC2	8924	broad.mit.edu	37	15	28377840	28377840	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28377840G>T	ENST00000261609.7	-	80	12475	c.12367C>A	c.(12367-12369)Ctg>Atg	p.L4123M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGTGCCCCAGCCGGCCGTAG	0.647																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12367-12369)Ctg>Atg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							46.0	48.0	47.0					15																	28377840		2201	4300	6501	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28377840G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12367C>A	15.37:g.28377840G>T	ENSP00000261609:p.Leu4123Met						p.L4123M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	80	12475	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4123						Missense_Mutation	SNP	ENST00000261609.7	37	c.12367C>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677307	0.68042	.	.	ENSG00000128731	ENST00000261609	D	0.97161	-4.27	4.86	3.94	0.45596	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.167980	0.38381	N	0.001718	D	0.99032	0.9669	H	0.98446	4.235	0.58432	D	0.999999	P	0.51351	0.944	D	0.68353	0.957	D	0.98968	1.0800	10	0.87932	D	0	.	13.7802	0.63079	0.0755:0.0:0.9245:0.0	.	4123	O95714	HERC2_HUMAN	M	4123	ENSP00000261609:L4123M	ENSP00000261609:L4123M	L	-	1	2	HERC2	26051435	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	4.856000	0.62932	1.168000	0.42723	0.555000	0.69702	CTG		0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		108	395	1	0	3.0784e-53	1	3.83574e-53	108	395				
ERV3-1	2086	broad.mit.edu	37	7	64452444	64452444	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64452444C>T	ENST00000394323.2	-	2	1461	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	321						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						agggaagaggcggttagtgtg	0.473																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(961-963)Gcc>Acc									112.0	107.0	108.0					7																	64452444		1909	4125	6034	SO:0001583	missense	0					virion		g.chr7:64452444C>T	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.961G>A	7.37:g.64452444C>T	ENSP00000391594:p.Ala321Thr						p.A321T	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	1461	-			321						Missense_Mutation	SNP	ENST00000394323.2	37	c.961G>A	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	6.029	0.373706	0.11409	.	.	ENSG00000213462	ENST00000394323	T	0.21191	2.02	0.109	0.109	0.14578	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	B	0.26416	0.069	T	0.26395	-1.0104	8	0.44086	T	0.13	.	.	.	.	.	321	Q14264	ENR1_HUMAN	T	321	ENSP00000391594:A321T	ENSP00000391594:A321T	A	-	1	0	ERV3-1	64089879	0.025000	0.19082	0.014000	0.15608	0.015000	0.08874	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GCC		0.473	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		42	221	0	0	0	1	0	42	221				
MAST2	23139	broad.mit.edu	37	1	46500837	46500837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46500837G>A	ENST00000361297.2	+	29	4779	c.4496G>A	c.(4495-4497)cGt>cAt	p.R1499H	MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAAGCCATTCGTGAGGTGGAC	0.647																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(4495-4497)cGt>cAt		microtubule associated serine/threonine kinase 2							31.0	35.0	34.0					1																	46500837		2119	4237	6356	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46500837G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4496G>A	1.37:g.46500837G>A	ENSP00000354671:p.Arg1499His					MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	p.R1499H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			29	4779	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1499						Missense_Mutation	SNP	ENST00000361297.2	37	c.4496G>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.029744	0.35797	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625	T;T	0.66099	-0.12;-0.19	4.32	4.32	0.51571	.	0.209202	0.37715	N	0.001979	T	0.49115	0.1538	L	0.29908	0.895	0.27728	N	0.944905	B;B	0.23490	0.086;0.086	B;B	0.12837	0.008;0.007	T	0.46898	-0.9158	10	0.41790	T	0.15	-4.8552	13.9857	0.64334	0.0:0.1524:0.8476:0.0	.	1309;1499	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	H	1499;1309;186	ENSP00000354671:R1499H;ENSP00000361079:R1309H	ENSP00000354671:R1499H	R	+	2	0	MAST2	46273424	0.997000	0.39634	0.988000	0.46212	0.725000	0.41563	2.700000	0.47085	2.417000	0.82017	0.454000	0.30748	CGT		0.647	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		8	214	0	0	0	1	0	8	214				
DCHS2	54798	broad.mit.edu	37	4	155157462	155157462	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157462T>G	ENST00000357232.4	-	25	6976	c.6977A>C	c.(6976-6978)aAt>aCt	p.N2326T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2326	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAGGCAGATTTTCTGGAAC	0.393																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(6976-6978)aAt>aCt		dachsous cadherin-related 2							101.0	94.0	97.0					4																	155157462		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157462T>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6977A>C	4.37:g.155157462T>G	ENSP00000349768:p.Asn2326Thr						p.N2326T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6976	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2326			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6977A>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612391	0.46631	.	.	ENSG00000197410	ENST00000357232	T	0.25414	1.8	5.68	5.68	0.88126	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.56688	0.2002	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63778	-0.6560	10	0.72032	D	0.01	.	15.9379	0.79729	0.0:0.0:0.0:1.0	.	2326	Q6V1P9	PCD23_HUMAN	T	2326	ENSP00000349768:N2326T	ENSP00000349768:N2326T	N	-	2	0	DCHS2	155376912	1.000000	0.71417	0.921000	0.36526	0.010000	0.07245	6.287000	0.72671	2.151000	0.67156	0.523000	0.50628	AAT		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		97	439	0	0	0	1	0	97	439				
SEPT9	10801	broad.mit.edu	37	17	75478280	75478280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:75478280C>T	ENST00000427177.1	+	4	902	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A95V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000329047.8_Missense_Mutation_p.A241V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	259					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCCAGAGATGCCGGGCTCAAG	0.652																																						ENST00000329047.8																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(721-723)gCc>gTc		septin 9							21.0	27.0	25.0					17																	75478280		2020	4182	6202	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75478280C>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.776C>T	17.37:g.75478280C>T	ENSP00000391249:p.Ala259Val					SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V|SEPT9_ENST00000427177.1_Missense_Mutation_p.A259V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A95V	p.A241V	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		3	1534	+			259					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.722C>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	c	10.19	1.281855	0.23392	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.47528	1.25;0.87;1.26;1.26;0.87;0.84	5.08	2.48	0.30137	.	1.700500	0.03765	U	0.258872	T	0.42966	0.1226	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B	0.23806	0.0;0.001;0.012;0.091;0.004;0.001;0.001	B;B;B;B;B;B;B	0.17433	0.001;0.002;0.015;0.018;0.005;0.005;0.002	T	0.20706	-1.0267	10	0.35671	T	0.21	.	6.1871	0.20503	0.0:0.6649:0.1468:0.1882	.	35;240;147;220;252;241;259	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;.;SEPT9_HUMAN	V	259;8;95;241;252;95;35;8;147	ENSP00000391249:A259V;ENSP00000400181:A95V;ENSP00000329161:A241V;ENSP00000405877:A252V;ENSP00000403194:A95V;ENSP00000415624:A147V	ENSP00000329161:A241V	A	+	2	0	SEPT9	72989875	0.028000	0.19301	0.001000	0.08648	0.248000	0.25809	0.947000	0.29082	0.407000	0.25591	0.627000	0.83407	GCC		0.652	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		15	73	0	0	0	1	0	15	73				
KDM1B	221656	broad.mit.edu	37	6	18208416	18208416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18208416C>T	ENST00000297792.5	+	13	1326	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.G384G|KDM1B_ENST00000388870.2_Silent_p.G616G			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	615					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTACAGATGGCACAGGGTATT	0.463																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1846-1848)ggC>ggT		lysine (K)-specific demethylase 1B							169.0	160.0	163.0					6																	18208416		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18208416C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1149C>T	6.37:g.18208416C>T						KDM1B_ENST00000397244.1_Silent_p.G384G|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Silent_p.G383G	p.G616G			Q8NB78	KDM1B_HUMAN			17	2089	+			615					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.1848C>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	9.526	1.109624	0.20714	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.16	0.175	0.15045	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	-3.398	1.9357	0.03336	0.1705:0.2963:0.328:0.2052	.	.	.	.	V	433	.	.	A	+	2	0	KDM1B	18316395	0.002000	0.14202	0.050000	0.19076	0.510000	0.34073	-0.669000	0.05262	0.065000	0.16485	0.655000	0.94253	GCA		0.463	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		68	343	0	0	0	1	0	68	343				
PLCE1	51196	broad.mit.edu	37	10	96022269	96022269	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022269T>G	ENST00000371380.3	+	13	4068	c.3833T>G	c.(3832-3834)gTc>gGc	p.V1278G	PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G|PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000260766.3_Missense_Mutation_p.V1278G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1278					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCAGAAATGTCTCGGATTTG	0.433																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3832-3834)gTc>gGc		phospholipase C, epsilon 1							240.0	218.0	225.0					10																	96022269		1938	4142	6080	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96022269T>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3833T>G	10.37:g.96022269T>G	ENSP00000360431:p.Val1278Gly					PLCE1_ENST00000371380.2_Missense_Mutation_p.V1278G|PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G	p.V1278G	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			14	4467	+		Colorectal(252;0.0458)	1278					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3833T>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209914	0.39003	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25414	1.8;1.8;1.83;1.83	5.91	5.91	0.95273	.	0.073163	0.56097	D	0.000034	T	0.13500	0.0327	N	0.03115	-0.41	0.58432	D	0.999999	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.11329	0.003;0.006;0.002	T	0.16305	-1.0407	10	0.22706	T	0.39	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	1262;970;1278	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	G	1278;1278;970;970	ENSP00000260766:V1278G;ENSP00000360431:V1278G;ENSP00000360438:V970G;ENSP00000360426:V970G	ENSP00000260766:V1278G	V	+	2	0	PLCE1	96012259	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.211000	0.72182	2.261000	0.74972	0.533000	0.62120	GTC		0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		167	737	0	0	0	1	0	167	737				
PCDH8	5100	broad.mit.edu	37	13	53422634	53422634	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422634G>A	ENST00000377942.3	-	0	141				PCDH8_ENST00000338862.4_De_novo_Start_OutOfFrame	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8						cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGGTCGGGCGTCAGTCTCAG	0.627																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36								protocadherin 8																																						5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422634G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.-63C>T	13.37:g.53422634G>A						PCDH8_ENST00000338862.4_De_novo_Start_OutOfFrame		NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	0	141	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Translation_Start_Site	SNP	ENST00000377942.3	37		CCDS9438.1																																																																																				0.627	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		14	75	0	0	0	1	0	14	75				
C1orf112	55732	broad.mit.edu	37	1	169821053	169821053	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169821053A>G	ENST00000286031.6	+	23	3040	c.2340A>G	c.(2338-2340)gaA>gaG	p.E780E	SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000359326.4_Silent_p.E780E|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	780										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGACTGTAGAAGAAGCAAAGA	0.423																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(2338-2340)gaA>gaG		chromosome 1 open reading frame 112							86.0	83.0	84.0					1																	169821053		2203	4300	6503	SO:0001819	synonymous_variant	55732							g.chr1:169821053A>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2340A>G	1.37:g.169821053A>G						C1orf112_ENST00000359326.4_Silent_p.E780E|C1orf112_ENST00000498289.1_3'UTR	p.E780E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			23	3040	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		780					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	c.2340A>G	CCDS1285.1																																																																																				0.423	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		9	201	0	0	0	1	0	9	201				
PCDH15	65217	broad.mit.edu	37	10	55626499	55626499	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55626499G>T	ENST00000320301.6	-	27	4014	c.3620C>A	c.(3619-3621)gCt>gAt	p.A1207D	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1214D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1207	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGAGCATAGCAGTTTTGAT	0.413										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3640-3642)gCt>gAt		protocadherin-related 15							161.0	141.0	147.0					10																	55626499		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626499G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3620C>A	10.37:g.55626499G>T	ENSP00000322604:p.Ala1207Asp	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1207D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D	p.A1214D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			28	4035	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1207			Cadherin 11.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3641C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003174	0.93287	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75997	0.3926	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.996;1.0;1.0;1.0;1.0;0.998;0.998;0.998;1.0;0.998	T	0.77765	-0.2465	9	0.72032	D	0.01	.	19.6571	0.95847	0.0:0.0:1.0:0.0	.	1185;1207;1207;1212;1136;1170;1207;1207;1214;1214;1207;1212;1207	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	1214;1212;1207;1207;818;1214;1170;1207;1185;1207;1207;1212;1136	ENSP00000363076:A1214D;ENSP00000410304:A1212D;ENSP00000378826:A1207D;ENSP00000386693:A818D;ENSP00000378832:A1214D;ENSP00000378820:A1170D;ENSP00000354950:A1207D;ENSP00000378821:A1185D;ENSP00000322604:A1207D;ENSP00000378818:A1207D;ENSP00000412628:A1136D	ENSP00000322604:A1207D	A	-	2	0	PCDH15	55296505	1.000000	0.71417	0.960000	0.40013	0.957000	0.61999	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCT		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		41	398	1	0	1.49673e-21	1	1.68722e-21	41	398				
GRWD1	83743	broad.mit.edu	37	19	48956239	48956239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956239C>T	ENST00000253237.5	+	7	1531	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	433						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGTCAGCACGGCGCTGTCA	0.632																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(1297-1299)aCg>aTg		glutamate-rich WD repeat containing 1							43.0	47.0	45.0					19																	48956239		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48956239C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1298C>T	19.37:g.48956239C>T	ENSP00000253237:p.Thr433Met						p.T433M	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	7	1531	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	433					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.1298C>T	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319539	0.81469	.	.	ENSG00000105447	ENST00000253237	T	0.01379	4.96	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.123114	0.53938	D	0.000055	T	0.13586	0.0329	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01776	-1.1276	10	0.87932	D	0	.	17.3051	0.87192	0.0:1.0:0.0:0.0	.	433	Q9BQ67	GRWD1_HUMAN	M	433	ENSP00000253237:T433M	ENSP00000253237:T433M	T	+	2	0	GRWD1	53648051	1.000000	0.71417	0.979000	0.43373	0.668000	0.39293	5.211000	0.65219	2.449000	0.82847	0.561000	0.74099	ACG		0.632	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		10	528	0	0	0	1	0	10	528				
TMEM39B	55116	broad.mit.edu	37	1	32568053	32568053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32568053C>T	ENST00000336294.5	+	9	1404	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	420						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAAACCCCTGCGGATCCTCAA	0.567																																						ENST00000336294.5																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(1258-1260)Cgg>Tgg		transmembrane protein 39B							103.0	102.0	102.0					1																	32568053		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32568053C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1258C>T	1.37:g.32568053C>T	ENSP00000338165:p.Arg420Trp					TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W	p.R420W	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN			9	1404	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	420					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.1258C>T	CCDS351.2	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902253	0.72754	.	.	ENSG00000121775	ENST00000336294;ENST00000373634	.	.	.	5.75	2.62	0.31277	.	0.054040	0.85682	D	0.000000	T	0.77301	0.4110	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77895	-0.2417	9	0.36615	T	0.2	-26.1014	16.0679	0.80897	0.4354:0.5646:0.0:0.0	.	420;293	Q9GZU3;Q9NW51	TM39B_HUMAN;.	W	420;221	.	ENSP00000338165:R420W	R	+	1	2	TMEM39B	32340640	0.791000	0.28800	1.000000	0.80357	0.987000	0.75469	0.322000	0.19576	0.851000	0.35264	0.655000	0.94253	CGG		0.567	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		80	405	0	0	0	1	0	80	405				
DIRAS1	148252	broad.mit.edu	37	19	2717589	2717589	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717589C>T	ENST00000323469.4	-	2	399	c.216G>A	c.(214-216)caG>caA	p.Q72Q	DIRAS1_ENST00000585334.1_Silent_p.Q72Q	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	72					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACAGGCGCTGCATGGCCG	0.627																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(214-216)caG>caA		DIRAS family, GTP-binding RAS-like 1							74.0	61.0	65.0					19																	2717589		2202	4297	6499	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717589C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.216G>A	19.37:g.2717589C>T						DIRAS1_ENST00000585334.1_Silent_p.Q72Q	p.Q72Q	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	399	-			72						Silent	SNP	ENST00000323469.4	37	c.216G>A	CCDS12092.1																																																																																				0.627	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			59	188	0	0	0	1	0	59	188				
ADSL	158	broad.mit.edu	37	22	40754974	40754974	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40754974G>A	ENST00000216194.7	+	5	645	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ADSL_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000342312.6_Missense_Mutation_p.G197R|ADSL_ENST00000480775.1_3'UTR	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	197					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GCGCTTCCGGGGAGTAAAGGG	0.512																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(589-591)Gga>Aga		adenylosuccinate lyase							93.0	84.0	87.0					22																	40754974		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40754974G>A	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.589G>A	22.37:g.40754974G>A	ENSP00000216194:p.Gly197Arg					ADSL_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.G197R	p.G197R	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			5	645	+			197					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.589G>A	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320746	0.95682	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.99304	-3.66;-3.66;-5.72	6.05	6.05	0.98169	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98178	4.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97465	1.0037	10	0.87932	D	0	-22.601	20.6087	0.99469	0.0:0.0:1.0:0.0	.	211;197;197;197	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	R	197;211;17;197	ENSP00000216194:G197R;ENSP00000390107:G211R;ENSP00000341429:G197R	ENSP00000216194:G197R	G	+	1	0	ADSL	39084920	1.000000	0.71417	0.772000	0.31596	0.992000	0.81027	8.972000	0.93424	2.866000	0.98385	0.650000	0.86243	GGA		0.512	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		7	317	0	0	0	1	0	7	317				
IRF6	3664	broad.mit.edu	37	1	209963951	209963951	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963951A>G	ENST00000367021.3	-	7	1121	c.949T>C	c.(949-951)Tgc>Cgc	p.C317R	IRF6_ENST00000542854.1_Missense_Mutation_p.C222R|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	317					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGCACTGGCACAGCCTGATG	0.512										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(949-951)Tgc>Cgc		interferon regulatory factor 6							95.0	78.0	84.0					1																	209963951		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963951A>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.949T>C	1.37:g.209963951A>G	ENSP00000355988:p.Cys317Arg	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Missense_Mutation_p.C222R	p.C317R	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1121	-			317					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.949T>C	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002788	0.74932	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95788	-3.81;-3.81	6.17	5.02	0.67125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.040056	0.85682	D	0.000000	D	0.97614	0.9218	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97507	1.0064	9	.	.	.	.	12.7001	0.57026	0.8765:0.0:0.0:0.1235	.	317	O14896	IRF6_HUMAN	R	317;222	ENSP00000355988:C317R;ENSP00000440532:C222R	.	C	-	1	0	IRF6	208030574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.747000	0.91610	1.097000	0.41459	0.533000	0.62120	TGC		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		57	272	0	0	0	1	0	57	272				
RERG	85004	broad.mit.edu	37	12	15370385	15370385	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15370385C>A	ENST00000256953.2	-	2	375	c.39G>T	c.(37-39)ggG>ggT	p.G13G	RERG_ENST00000546331.1_Silent_p.G13G|RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	13					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCCTGCTCTCCCAAATATTG	0.418																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(37-39)ggG>ggT		RAS-like, estrogen-regulated, growth inhibitor							289.0	240.0	256.0					12																	15370385		2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15370385C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.39G>T	12.37:g.15370385C>A						RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000546331.1_Silent_p.G13G	p.G13G	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			2	375	-			13					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.39G>T	CCDS8673.1																																																																																				0.418	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		141	544	1	0	1.9732e-51	1	2.44871e-51	141	544				
MOG	4340	broad.mit.edu	37	6	29633971	29633971	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29633971C>T	ENST00000376917.3	+	3	708	c.479C>T	c.(478-480)gCg>gTg	p.A160V	MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000416766.2_Intron|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000376894.4_Missense_Mutation_p.A160V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000396701.2_Missense_Mutation_p.A160V	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	160					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A160V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTCCTCGCGGTGCTGCCT	0.557																																						ENST00000376894.4																			1	Substitution - Missense(1)	p.A160V(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(478-480)gCg>gTg		myelin oligodendrocyte glycoprotein							296.0	249.0	266.0					6																	29633971		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29633971C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.479C>T	6.37:g.29633971C>T	ENSP00000366115:p.Ala160Val					MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000376917.3_Missense_Mutation_p.A160V|MOG_ENST00000416766.2_Intron|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000396701.2_Missense_Mutation_p.A160V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V	p.A160V			Q16653	MOG_HUMAN			3	597	+			160					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.479C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196546	0.58126	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.45276	3.48;1.06;3.44;0.91;0.9;3.54;3.51;3.56;3.52;3.51;3.52	5.71	4.83	0.62350	.	0.129375	0.35466	N	0.003197	T	0.38026	0.1025	L	0.53249	1.67	0.46167	D	0.9989	P;P;P;D;D;D;D;D;P;D;P;D	0.56968	0.708;0.708;0.942;0.978;0.978;0.967;0.972;0.978;0.944;0.978;0.566;0.969	B;B;P;P;P;P;P;P;B;P;B;P	0.53006	0.138;0.138;0.563;0.573;0.573;0.715;0.469;0.551;0.359;0.551;0.06;0.453	T	0.35201	-0.9798	10	0.87932	D	0	.	9.6279	0.39761	0.0:0.9076:0.0:0.0924	.	44;44;90;160;160;160;160;160;160;160;44;160	E9PG44;E9PGF0;B7Z2X8;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	V	160;44;160;44;44;160;160;160;160;160;160	ENSP00000366115:A160V;ENSP00000366085:A44V;ENSP00000366091:A160V;ENSP00000418090:A44V;ENSP00000420350:A44V;ENSP00000366088:A160V;ENSP00000366095:A160V;ENSP00000410866:A160V;ENSP00000379929:A160V;ENSP00000417405:A160V;ENSP00000379932:A160V	ENSP00000366085:A44V	A	+	2	0	MOG	29741950	0.534000	0.26362	0.629000	0.29254	0.241000	0.25554	2.143000	0.42187	2.686000	0.91538	0.655000	0.94253	GCG		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		180	783	0	0	0	1	0	180	783				
RASGRF1	5923	broad.mit.edu	37	15	79296436	79296436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79296436G>A	ENST00000419573.3	-	16	2479	c.2205C>T	c.(2203-2205)cgC>cgT	p.R735R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	735	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGAGAACTTGCGGGTGGCGC	0.647																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2203-2205)cgC>cgT		Ras protein-specific guanine nucleotide-releasing factor 1							40.0	46.0	44.0					15																	79296436		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296436G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2205C>T	15.37:g.79296436G>A						RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R	p.R735R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2479	-			735			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2205C>T	CCDS10309.1																																																																																				0.647	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		18	489	0	0	0	1	0	18	489				
MYO18B	84700	broad.mit.edu	37	22	26157081	26157081	+	Missense_Mutation	SNP	G	G	A	rs139296373	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26157081G>A	ENST00000407587.2	+	2	191	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A8T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A8T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	8						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A8T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCACGCCTCGCCCTGTGGGA	0.592													G|||	2	0.000399361	0.0	0.0014	5008	,	,		21771	0.0		0.001	False		,,,				2504	0.0					ENST00000335473.7																			1	Substitution - Missense(1)	p.A8T(1)	large_intestine(1)	NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(22-24)Gcc>Acc		myosin XVIIIB		G	THR/ALA	0,4378		0,0,2189	102.0	103.0	102.0		22	5.3	1.0	22	dbSNP_134	102	2,8558	2.2+/-6.3	0,2,4278	no	missense	MYO18B	NM_032608.5	58	0,2,6467	AA,AG,GG		0.0234,0.0,0.0155	benign	8/2568	26157081	2,12936	2189	4280	6469	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26157081G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.22G>A	22.37:g.26157081G>A	ENSP00000386096:p.Ala8Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.A8T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A8T	p.A8T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			2	272	+			8					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.22G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.9	4.874543	0.91664	0.0	2.34E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88896	-2.42;-2.42;-2.44	5.3	5.3	0.74995	.	0.000000	0.36101	N	0.002800	D	0.92909	0.7744	L	0.56769	1.78	0.34314	D	0.685746	D	0.89917	1.0	D	0.87578	0.998	D	0.95653	0.8708	10	0.87932	D	0	.	14.4541	0.67404	0.0:0.0:1.0:0.0	.	8	F5GYU7	.	T	8	ENSP00000441229:A8T;ENSP00000334563:A8T;ENSP00000386096:A8T	ENSP00000334563:A8T	A	+	1	0	MYO18B	24487081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.191000	0.65110	2.487000	0.83934	0.591000	0.81541	GCC		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	476	0	0	0	1	0	9	476				
JRK	8629	broad.mit.edu	37	8	143747217	143747217	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143747217C>A	ENST00000507178.2	-	0	593							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ggtccaggtgctccagcttgg	0.662																																						ENST00000507178.2																			0													jerky homolog (mouse)							28.0	35.0	33.0					8																	143747217		2128	4234	6362			8629							g.chr8:143747217C>A	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143747217C>A														0	593	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	RNA	SNP	ENST00000507178.2	37																																																																																						0.662	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		7	93	1	0	1.12685e-05	1	1.15515e-05	7	93				
BHMT	635	broad.mit.edu	37	5	78416175	78416175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78416175G>A	ENST00000274353.5	+	4	395	c.288G>A	c.(286-288)ggG>ggA	p.G96G	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	96	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATTTTAGGGGCAGGAAGTCA	0.383																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(286-288)ggG>ggA		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						50.0	50.0	50.0					5																	78416175		2203	4300	6503	SO:0001819	synonymous_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78416175G>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.288G>A	5.37:g.78416175G>A						BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	p.G96G	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	4	395	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	96			Hcy-binding.		Q9UNI9	Silent	SNP	ENST00000274353.5	37	c.288G>A	CCDS4046.1																																																																																				0.383	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		37	149	0	0	0	1	0	37	149				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		15	367	0	0	0	1	0	15	367				
TRIML1	339976	broad.mit.edu	37	4	189067986	189067986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189067986G>A	ENST00000332517.3	+	6	1007	c.867G>A	c.(865-867)acG>acA	p.T289T	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	289	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGGAGATAACGCTGGACCCAG	0.473																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(865-867)acG>acA		tripartite motif family-like 1							142.0	145.0	144.0					4																	189067986		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189067986G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.867G>A	4.37:g.189067986G>A						TRIML1_ENST00000507581.1_3'UTR	p.T289T	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1007	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	289			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.867G>A	CCDS3851.1																																																																																				0.473	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		98	869	0	0	0	1	0	98	869				
IGSF21	84966	broad.mit.edu	37	1	18703915	18703915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18703915G>A	ENST00000251296.1	+	9	1706	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	441						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGGAACGGAGGACTCTAATG	0.478																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1321-1323)gaG>gaA		immunoglobin superfamily, member 21							122.0	120.0	120.0					1																	18703915		2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18703915G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1323G>A	1.37:g.18703915G>A							p.E441E	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	9	1706	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	441					Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.1323G>A	CCDS184.1																																																																																				0.478	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		29	429	0	0	0	1	0	29	429				
DCDC2	51473	broad.mit.edu	37	6	24291177	24291177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24291177C>T	ENST00000378454.3	-	5	988	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	229					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GCCTTCTCATCGTTGACTTGT	0.413																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(685-687)acG>acA		doublecortin domain containing 2							117.0	109.0	112.0					6																	24291177		2203	4300	6503	SO:0001819	synonymous_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24291177C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.687G>A	6.37:g.24291177C>T							p.T229T	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			5	988	-		Ovarian(999;0.101)	229					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	ENST00000378454.3	37	c.687G>A	CCDS4550.1																																																																																				0.413	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		37	171	0	0	0	1	0	37	171				
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101016096G>A	ENST00000539410.1	+	8	1078	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(379-381)cGa>cAa		growth arrest-specific 2 like 3							129.0	129.0	129.0					12																	101016096		2203	4299	6502	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101016096G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.692G>A	12.37:g.101016096G>A	ENSP00000439672:p.Arg231Gln					GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q|GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231Q	p.R127Q			Q86XJ1	GA2L3_HUMAN			9	1334	+			231			CH.		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.380G>A	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870349	0.51588	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21543	2.0;2.0;2.02;2.0	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.22475	0.0542	N	0.05158	-0.105	0.31358	N	0.681691	D	0.56287	0.975	P	0.57283	0.817	T	0.10753	-1.0616	10	0.17369	T	0.5	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	Q	231;231;127;231	ENSP00000266754:R231Q;ENSP00000448955:R231Q;ENSP00000442406:R127Q;ENSP00000439672:R231Q	ENSP00000266754:R231Q	R	+	2	0	GAS2L3	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA		0.318	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		54	186	0	0	0	1	0	54	186				
R3HDM4	91300	broad.mit.edu	37	19	901987	901987	+	Missense_Mutation	SNP	C	C	T	rs574707568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:901987C>T	ENST00000361574.5	-	2	288	c.215G>A	c.(214-216)cGc>cAc	p.R72H	R3HDM4_ENST00000587975.1_Missense_Mutation_p.R51H	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	72						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										GTTCTCCAGGCGCTGGAGGCT	0.602													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14994	0.0		0.0	False		,,,				2504	0.0					ENST00000361574.5																			0											c.(214-216)cGc>cAc		R3H domain containing 4							74.0	75.0	74.0					19																	901987		2203	4299	6502	SO:0001583	missense	91300					nucleus	nucleic acid binding	g.chr19:901987C>T	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.215G>A	19.37:g.901987C>T	ENSP00000355385:p.Arg72His					R3HDM4_ENST00000587975.1_Missense_Mutation_p.R51H	p.R72H	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN			2	288	-			72						Missense_Mutation	SNP	ENST00000361574.5	37	c.215G>A	CCDS12048.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194653	0.94960	.	.	ENSG00000198858	ENST00000361574	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000013	T	0.76579	0.4007	M	0.64404	1.975	0.58432	D	0.999991	D	0.89917	1.0	D	0.77004	0.989	T	0.79881	-0.1616	9	0.87932	D	0	-18.0615	16.0896	0.81084	0.0:1.0:0.0:0.0	.	72	Q96D70	CS022_HUMAN	H	72	.	ENSP00000355385:R72H	R	-	2	0	C19orf22	852987	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.928000	0.63447	2.147000	0.66899	0.462000	0.41574	CGC		0.602	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		110	549	0	0	0	1	0	110	549				
NUAK1	9891	broad.mit.edu	37	12	106460686	106460686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106460686C>T	ENST00000261402.2	-	7	3259	c.1880G>A	c.(1879-1881)cGg>cAg	p.R627Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	627					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTTCCGGTACCGCTTCAGGTA	0.612																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1879-1881)cGg>cAg		NUAK family, SNF1-like kinase, 1							50.0	55.0	53.0					12																	106460686		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460686C>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1880G>A	12.37:g.106460686C>T	ENSP00000261402:p.Arg627Gln						p.R627Q	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	3259	-			627					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1880G>A	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505413	0.64410	.	.	ENSG00000074590	ENST00000261402	T	0.73363	-0.74	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000041	T	0.79185	0.4403	M	0.65498	2.005	0.35282	D	0.781421	D	0.60575	0.988	P	0.52267	0.694	T	0.77199	-0.2675	10	0.08179	T	0.78	.	20.1008	0.97874	0.0:1.0:0.0:0.0	.	627	O60285	NUAK1_HUMAN	Q	627	ENSP00000261402:R627Q	ENSP00000261402:R627Q	R	-	2	0	NUAK1	104984816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.756000	0.94617	0.563000	0.77884	CGG		0.612	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		14	510	0	0	0	1	0	14	510				
PLXDC1	57125	broad.mit.edu	37	17	37234180	37234180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234180C>A	ENST00000315392.4	-	11	1383	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	391					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGTGAGGCTGTCGATGAA	0.607																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1171-1173)aGc>aTc		plexin domain containing 1							135.0	101.0	113.0					17																	37234180		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37234180C>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1172G>T	17.37:g.37234180C>A	ENSP00000323927:p.Ser391Ile					PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I	p.S391I	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			11	1383	-			391					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.1172G>T	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573369	0.13623	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.43688	0.94;0.94	5.38	3.27	0.37495	.	0.841724	0.11355	N	0.572507	T	0.44664	0.1304	L	0.54323	1.7	0.80722	D	1	P;P	0.46395	0.838;0.877	P;P	0.47470	0.451;0.548	T	0.42292	-0.9460	10	0.59425	D	0.04	-28.3204	8.3469	0.32279	0.0:0.7454:0.162:0.0925	.	351;391	B4E173;Q8IUK5	.;PXDC1_HUMAN	I	391;318;351	ENSP00000323927:S391I;ENSP00000409687:S351I	ENSP00000323927:S391I	S	-	2	0	PLXDC1	34487706	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.321000	0.33678	1.506000	0.48736	-0.165000	0.13383	AGC		0.607	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		57	266	1	0	1.55088e-19	1	1.7306e-19	57	266				
GPR61	83873	broad.mit.edu	37	1	110085846	110085846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110085846G>A	ENST00000527748.1	+	2	885	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCGTGATCGCCAAGACGCC	0.607																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(202-204)Gcc>Acc		G protein-coupled receptor 61							173.0	160.0	165.0					1																	110085846		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085846G>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.202G>A	1.37:g.110085846G>A	ENSP00000432456:p.Ala68Thr					RP5-1160K1.8_ENST00000526411.1_RNA	p.A68T	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	885	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	68					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.202G>A	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566256	0.27915	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36699	1.24	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.060511	0.64402	D	0.000003	T	0.12433	0.0302	L	0.31752	0.955	0.45806	D	0.998682	B	0.31599	0.33	B	0.24394	0.053	T	0.06427	-1.0827	10	0.46703	T	0.11	-8.7647	8.7371	0.34534	0.0806:0.1531:0.7663:0.0	.	68	Q9BZJ8	GPR61_HUMAN	T	68;196	ENSP00000432456:A68T	ENSP00000286603:A196T	A	+	1	0	GPR61	109887369	0.851000	0.29673	0.952000	0.39060	0.679000	0.39708	1.313000	0.33585	2.479000	0.83701	0.561000	0.74099	GCC		0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			140	562	0	0	0	1	0	140	562				
PCNX	22990	broad.mit.edu	37	14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2213						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCTTTCTTGCGACAGAGGGA	0.567																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(6637-6639)gCg>gTg		pecanex homolog (Drosophila)							84.0	82.0	83.0					14																	71575657		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71575657C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6638C>T	14.37:g.71575657C>T	ENSP00000304192:p.Ala2213Val					PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000556272.1_3'UTR	p.A2213V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	34	7084	+			2213					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6638C>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.31|17.31	3.357994|3.357994	0.61403|0.61403	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.11063|.	3.25;3.23;2.81|.	5.86|5.86	4.97|4.97	0.65823|0.65823	.|.	0.048553|.	0.85682|.	D|.	0.000000|.	T|.	0.34193|.	0.0889|.	N|N	0.08118|0.08118	0|0	0.31462|0.31462	N|N	0.669408|0.669408	B;B;B|.	0.15930|.	0.01;0.015;0.015|.	B;B;B|.	0.16722|.	0.016;0.008;0.004|.	T|.	0.35025|.	-0.9805|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.8731|16.8731	0.86044|0.86044	0.0:0.1334:0.8666:0.0|0.0:0.1334:0.8666:0.0	.|.	2141;2102;2213|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|X	2213;2141;2102|1200	ENSP00000304192:A2213V;ENSP00000238570:A2141V;ENSP00000396617:A2102V|.	ENSP00000238570:A2141V|.	A|R	+|+	2|1	0|2	PCNX|PCNX	70645410|70645410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.102000|0.102000	0.19082|0.19082	5.659000|5.659000	0.68010|0.68010	1.481000|1.481000	0.48307|0.48307	-0.357000|-0.357000	0.07601|0.07601	GCG|CGA		0.567	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		37	401	0	0	0	1	0	37	401				
SSTR4	6754	broad.mit.edu	37	20	23016594	23016594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016594G>A	ENST00000255008.3	+	1	538	c.474G>A	c.(472-474)cgG>cgA	p.R158R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	158					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACCTACCGGCGGCCCAGCG	0.662																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(472-474)cgG>cgA		somatostatin receptor 4							44.0	49.0	47.0					20																	23016594		2198	4293	6491	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016594G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.474G>A	20.37:g.23016594G>A						RP4-753D10.3_ENST00000440921.1_RNA	p.R158R	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	538	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		158					Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.474G>A	CCDS42856.1																																																																																				0.662	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			106	418	0	0	0	1	0	106	418				
RADIL	55698	broad.mit.edu	37	7	4874574	4874574	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874574C>T	ENST00000399583.3	-	4	1267	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	RADIL_ENST00000536091.1_Silent_p.Q360Q|RADIL_ENST00000538469.1_Silent_p.Q120Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	360	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGGCTGGGCCTGCGCGGGGT	0.746																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1078-1080)caG>caA		Ras association and DIL domains							9.0	12.0	11.0					7																	4874574		1856	4070	5926	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874574C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1080G>A	7.37:g.4874574C>T						RADIL_ENST00000536091.1_Silent_p.Q360Q|RADIL_ENST00000538469.1_Silent_p.Q120Q	p.Q360Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1267	-		Ovarian(82;0.0175)	360			FHA.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.1080G>A	CCDS43544.1																																																																																				0.746	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		15	90	0	0	0	1	0	15	90				
ZNF274	10782	broad.mit.edu	37	19	58723727	58723727	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58723727C>A	ENST00000326804.4	+	9	1636	c.1177C>A	c.(1177-1179)Ctt>Att	p.L393I	ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAAAAAGACCTTCCTCAGAA	0.488																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(1177-1179)Ctt>Att		zinc finger protein 274							82.0	82.0	82.0					19																	58723727		2031	4189	6220	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723727C>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1177C>A	19.37:g.58723727C>A	ENSP00000321209:p.Leu393Ile					ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I|ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000597818.1_3'UTR	p.L393I	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	9	1636	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	394					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.1177C>A		.	.	.	.	.	.	.	.	.	.	C	13.18	2.160475	0.38119	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07327	3.34;3.21;3.2	4.71	2.5	0.30297	.	0.803124	0.10301	N	0.691197	T	0.05686	0.0149	.	.	.	0.09310	N	1	B;B;B	0.20780	0.021;0.048;0.028	B;B;B	0.18561	0.013;0.022;0.01	T	0.43475	-0.9389	9	0.24483	T	0.36	-2.4602	7.8969	0.29712	0.1834:0.6397:0.1769:0.0	.	289;362;394	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	I	393;361;288	ENSP00000321209:L393I;ENSP00000321187:L361I;ENSP00000409872:L288I	ENSP00000321209:L393I	L	+	1	0	ZNF274	63415539	0.000000	0.05858	0.005000	0.12908	0.140000	0.21249	0.499000	0.22546	0.675000	0.31264	0.561000	0.74099	CTT		0.488	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		48	200	1	0	1.21353e-23	1	1.38083e-23	48	200				
CC2D1B	200014	broad.mit.edu	37	1	52824024	52824024	+	Silent	SNP	C	C	T	rs140467530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824024C>T	ENST00000371586.2	-	13	1578	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	480						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P480P(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTATCAGCCGGGGCTGAAT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.001					ENST00000371586.2																			1	Substitution - coding silent(1)	p.P480P(1)	lung(1)	breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1438-1440)ccG>ccA		coiled-coil and C2 domain containing 1B		C		0,4406		0,0,2203	55.0	53.0	54.0		1440	-6.0	0.0	1	dbSNP_134	54	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CC2D1B	NM_032449.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		480/859	52824024	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	200014							g.chr1:52824024C>T	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1440G>A	1.37:g.52824024C>T						CC2D1B_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR	p.P480P	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			13	1578	-			480					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	37	c.1440G>A	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035508	0.02029	0.0	4.65E-4	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.99	-6.02	0.02192	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	0.094	9.3705	0.38250	0.0:0.5751:0.2411:0.1838	.	.	.	.	Q	267;400	.	.	R	-	2	0	CC2D1B	52596612	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	-4.244000	0.00267	-1.015000	0.03375	-0.415000	0.06103	CGG		0.582	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		24	285	0	0	0	1	0	24	285				
KPRP	448834	broad.mit.edu	37	1	152732646	152732646	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152732646G>A	ENST00000606109.1	+	1	610	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_ENST00000368773.1_Silent_p.Q194Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	194	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCCCCAGTTTCAGTCAA	0.547																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(580-582)caG>caA		keratinocyte proline-rich protein							150.0	147.0	148.0					1																	152732646		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732646G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.582G>A	1.37:g.152732646G>A						KPRP_ENST00000606109.1_Silent_p.Q194Q	p.Q194Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	640	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		194			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.582G>A	CCDS30862.1																																																																																				0.547	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		214	582	0	0	0	1	0	214	582				
TET2	54790	broad.mit.edu	37	4	106155474	106155474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106155474C>T	ENST00000540549.1	+	3	1235	c.375C>T	c.(373-375)ttC>ttT	p.F125F	TET2_ENST00000513237.1_Silent_p.F146F|TET2_ENST00000545826.1_Silent_p.F125F|TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	125					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.F125fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACGTAACTTCGGGGTAAGCC	0.418			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.F125fs*3(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(436-438)ttC>ttT		tet methylcytosine dioxygenase 2							58.0	57.0	58.0					4																	106155474		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155474C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.375C>T	4.37:g.106155474C>T						TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F|TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000540549.1_Silent_p.F125F|TET2_ENST00000545826.1_Silent_p.F125F	p.F146F			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1235	+		Myeloproliferative disorder(5;0.0393)	125					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.438C>T	CCDS47120.1																																																																																				0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		10	248	0	0	0	1	0	10	248				
NISCH	11188	broad.mit.edu	37	3	52521711	52521711	+	Missense_Mutation	SNP	G	G	A	rs145748458	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521711G>A	ENST00000479054.1	+	17	2275	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	NISCH_ENST00000345716.4_Missense_Mutation_p.G735S			Q9Y2I1	NISCH_HUMAN	nischarin	735	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CACCGACTTCGGCATCGCAGT	0.617																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2203-2205)Ggc>Agc		nischarin		G	SER/GLY	0,4406	2.1+/-5.4	0,0,2203	99.0	84.0	89.0		2203	5.3	1.0	3	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	yes	missense	NISCH	NM_007184.3	56	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	735/1505	52521711	6,13000	2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521711G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2203G>A	3.37:g.52521711G>A	ENSP00000418232:p.Gly735Ser					NISCH_ENST00000479054.1_Missense_Mutation_p.G735S	p.G735S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2337	+			735			Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2203G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044219	0.36085	0.0	6.98E-4	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.06528	3.29;3.29	5.3	5.3	0.74995	.	0.201961	0.41294	D	0.000916	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	P	0.40107	0.703	B	0.23716	0.048	T	0.49153	-0.8969	10	0.16420	T	0.52	-33.4656	9.2809	0.37727	0.0755:0.2673:0.6572:0.0	.	735	Q9Y2I1	NISCH_HUMAN	S	735;735;79	ENSP00000418232:G735S;ENSP00000339958:G735S	ENSP00000339958:G735S	G	+	1	0	NISCH	52496751	0.976000	0.34144	0.990000	0.47175	0.906000	0.53458	2.376000	0.44292	2.499000	0.84300	0.555000	0.69702	GGC		0.617	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		18	401	0	0	0	1	0	18	401				
CAB39	51719	broad.mit.edu	37	2	231657983	231657983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231657983C>T	ENST00000258418.5	+	4	764	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CAB39_ENST00000409788.3_Missense_Mutation_p.T112M|CAB39_ENST00000410084.3_Missense_Mutation_p.T112M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	112					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CAAATTGGTACGAGAACTCCT	0.328																																						ENST00000258418.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(334-336)aCg>aTg		calcium binding protein 39							123.0	122.0	122.0					2																	231657983		2203	4300	6503	SO:0001583	missense	51719				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding	g.chr2:231657983C>T	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.335C>T	2.37:g.231657983C>T	ENSP00000258418:p.Thr112Met					CAB39_ENST00000410084.3_Missense_Mutation_p.T112M|CAB39_ENST00000409788.3_Missense_Mutation_p.T112M	p.T112M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	4	764	+		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)	112					A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	37	c.335C>T	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895363	0.91962	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.30714	1.52;1.52;1.52	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88105	2.93	0.80722	D	1	D	0.63880	0.993	P	0.53450	0.726	T	0.63866	-0.6540	10	0.72032	D	0.01	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	112	Q9Y376	CAB39_HUMAN	M	112	ENSP00000258418:T112M;ENSP00000386238:T112M;ENSP00000386642:T112M	ENSP00000258418:T112M	T	+	2	0	CAB39	231366227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.873000	0.98535	0.563000	0.77884	ACG		0.328	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		28	339	0	0	0	1	0	28	339				
TMEM121	80757	broad.mit.edu	37	14	105995269	105995269	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105995269A>C	ENST00000392519.2	+	2	262	c.98A>C	c.(97-99)aAc>aCc	p.N33T	TMEM121_ENST00000431372.1_Missense_Mutation_p.N33T	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	33						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GTGGAGCAGAACCAGGGCCCG	0.687																																						ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(97-99)aAc>aCc		transmembrane protein 121							92.0	78.0	83.0					14																	105995269		2200	4297	6497	SO:0001583	missense	80757					integral to membrane		g.chr14:105995269A>C		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.98A>C	14.37:g.105995269A>C	ENSP00000376304:p.Asn33Thr					TMEM121_ENST00000431372.1_Missense_Mutation_p.N33T	p.N33T	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	262	+		Melanoma(154;0.226)	33						Missense_Mutation	SNP	ENST00000392519.2	37	c.98A>C	CCDS10006.1	.	.	.	.	.	.	.	.	.	.	a	14.33	2.503675	0.44558	.	.	ENSG00000184986	ENST00000392519;ENST00000431372	.	.	.	3.77	2.32	0.28847	.	0.068612	0.56097	U	0.000027	T	0.34948	0.0915	L	0.27053	0.805	0.53688	D	0.999971	B	0.34181	0.44	B	0.31614	0.133	T	0.33189	-0.9878	9	0.66056	D	0.02	.	8.4915	0.33104	0.8774:0.0:0.1226:0.0	.	33	Q9BTD3	TM121_HUMAN	T	33	.	ENSP00000376304:N33T	N	+	2	0	TMEM121	105066314	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.530000	0.67141	1.355000	0.45865	0.397000	0.26171	AAC		0.687	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		15	50	0	0	0	1	0	15	50				
FZD1	8321	broad.mit.edu	37	7	90895964	90895964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895964C>T	ENST00000287934.2	+	1	2182	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	590					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCGGAGGCGCCCCGCCGCAC	0.647																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1768-1770)gCc>gTc		frizzled family receptor 1							20.0	21.0	21.0					7																	90895964		2200	4294	6494	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895964C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1769C>T	7.37:g.90895964C>T	ENSP00000287934:p.Ala590Val						p.A590V	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2182	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		590					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1769C>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633820	0.29068	.	.	ENSG00000157240	ENST00000287934	T	0.76839	-1.05	4.73	2.75	0.32379	GPCR, family 2-like (1);	0.677726	0.12176	N	0.492570	T	0.62986	0.2473	L	0.34521	1.04	0.25896	N	0.983419	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	10	0.23891	T	0.37	.	5.3639	0.16103	0.0:0.6788:0.2083:0.1129	.	590	Q9UP38	FZD1_HUMAN	V	590	ENSP00000287934:A590V	ENSP00000287934:A590V	A	+	2	0	FZD1	90733900	0.400000	0.25295	0.984000	0.44739	0.993000	0.82548	0.298000	0.19120	1.312000	0.45043	0.655000	0.94253	GCC		0.647	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		46	240	0	0	0	1	0	46	240				
SLC16A13	201232	broad.mit.edu	37	17	6941591	6941591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941591T>G	ENST00000308027.6	+	3	772	c.464T>G	c.(463-465)tTt>tGt	p.F155C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	155						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TCCTTCACATTTGCCCCCTTT	0.642																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(463-465)tTt>tGt		solute carrier family 16, member 13							66.0	70.0	69.0					17																	6941591		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941591T>G	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.464T>G	17.37:g.6941591T>G	ENSP00000309751:p.Phe155Cys						p.F155C	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	772	+			155					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.464T>G	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876462	0.72180	.	.	ENSG00000174327	ENST00000308027	T	0.57595	0.39	5.54	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.105795	0.64402	D	0.000003	T	0.73353	0.3576	M	0.87180	2.865	0.44807	D	0.997815	D	0.89917	1.0	D	0.85130	0.997	T	0.75889	-0.3158	10	0.87932	D	0	.	9.6037	0.39622	0.0:0.0831:0.0:0.9169	.	155	Q7RTY0	MOT13_HUMAN	C	155	ENSP00000309751:F155C	ENSP00000309751:F155C	F	+	2	0	SLC16A13	6882315	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.627000	0.83176	0.935000	0.37341	0.460000	0.39030	TTT		0.642	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			72	335	0	0	0	1	0	72	335				
SLC22A6	9356	broad.mit.edu	37	11	62751503	62751503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62751503G>A	ENST00000377871.3	-	2	652	c.386C>T	c.(385-387)tCt>tTt	p.S129F	SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	129					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCCCTGTGAGAGCACACAAG	0.622																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(385-387)tCt>tTt		solute carrier family 22 (organic anion transporter), member 6							44.0	41.0	42.0					11																	62751503		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62751503G>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.386C>T	11.37:g.62751503G>A	ENSP00000367102:p.Ser129Phe					SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F	p.S129F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			2	652	-			129					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.386C>T	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476899	0.63849	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.52	2.18	0.27775	Major facilitator superfamily domain (1);	0.328214	0.31531	N	0.007482	D	0.85965	0.5820	M	0.79805	2.47	0.24323	N	0.995039	D;D;D;D	0.57571	0.96;0.98;0.967;0.98	P;P;P;P	0.62491	0.844;0.844;0.903;0.844	T	0.75442	-0.3316	9	.	.	.	.	7.2314	0.26045	0.0:0.222:0.365:0.413	.	129;129;129;129	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	F	129;108;129;129;129	ENSP00000353597:S129F;ENSP00000367102:S129F;ENSP00000396401:S129F;ENSP00000404441:S129F	.	S	-	2	0	SLC22A6	62508079	0.000000	0.05858	0.838000	0.33150	0.996000	0.88848	0.252000	0.18278	1.264000	0.44198	0.650000	0.86243	TCT		0.622	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		16	109	0	0	0	1	0	16	109				
MARK1	4139	broad.mit.edu	37	1	220804392	220804392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220804392C>T	ENST00000366917.4	+	10	1191	c.925C>T	c.(925-927)Cga>Tga	p.R309*	HDAC1P2_ENST00000602936.1_RNA|MARK1_ENST00000402574.1_Nonsense_Mutation_p.R174*|MARK1_ENST00000366918.4_Nonsense_Mutation_p.R287*					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGAAAGATCGATGGATGAA	0.328																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(520-522)Cga>Tga		MAP/microtubule affinity-regulating kinase 1							108.0	105.0	106.0					1																	220804392		2203	4300	6503	SO:0001587	stop_gained	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220804392C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.925C>T	1.37:g.220804392C>T	ENSP00000355884:p.Arg309*					MARK1_ENST00000366918.4_Nonsense_Mutation_p.R287*|MARK1_ENST00000366917.4_Nonsense_Mutation_p.R309*	p.R174*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	10	1522	+			309			Protein kinase.			Nonsense_Mutation	SNP	ENST00000366917.4	37	c.520C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	44	10.904794	0.99486	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.78	5.78	0.91487	.	0.068862	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	174;287;309	.	ENSP00000355884:R309X	R	+	1	2	MARK1	218871015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.894000	0.99253	0.655000	0.94253	CGA		0.328	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			14	289	0	0	0	1	0	14	289				
USP14	9097	broad.mit.edu	37	18	197615	197615	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:197615G>T	ENST00000261601.7	+	8	685		c.e8-1		USP14_ENST00000383589.2_Splice_Site|USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000582707.1_Splice_Site	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACATTACAGGATGCTAATG	0.338																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.e8-1		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							118.0	122.0	120.0					18																	197615		2203	4299	6502	SO:0001630	splice_region_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:197615G>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.595-1G>T	18.37:g.197615G>T						USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000383589.2_Splice_Site|USP14_ENST00000582707.1_Splice_Site		NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			8	685	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)						J3QRZ5|Q53XY5	Splice_Site	SNP	ENST00000261601.7	37		CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475467	0.63737	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP14	187615	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	9.262000	0.95591	2.695000	0.91970	0.650000	0.86243	.		0.338	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151	Intron	34	208	1	0	1.836e-18	1	2.03801e-18	34	208				
ZFP2	80108	broad.mit.edu	37	5	178358719	178358719	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178358719T>C	ENST00000361362.2	+	5	935	c.405T>C	c.(403-405)tgT>tgC	p.C135C	ZFP2_ENST00000520301.1_Silent_p.C135C|ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000503510.2_Silent_p.C135C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTAATGTATGTGGGAAACACT	0.403																																						ENST00000361362.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20						c.(403-405)tgT>tgC		ZFP2 zinc finger protein							60.0	64.0	63.0					5																	178358719		2203	4300	6503	SO:0001819	synonymous_variant	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358719T>C	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.405T>C	5.37:g.178358719T>C						ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000503510.2_Silent_p.C135C|ZFP2_ENST00000520301.1_Silent_p.C135C	p.C135C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	935	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	135					A5PLN5|B7ZM23|Q9H6Z6	Silent	SNP	ENST00000361362.2	37	c.405T>C	CCDS4440.1																																																																																				0.403	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		88	265	0	0	0	1	0	88	265				
DOLK	22845	broad.mit.edu	37	9	131708616	131708616	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708616A>G	ENST00000372586.3	-	1	1282	c.967T>C	c.(967-969)Tca>Cca	p.S323P	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	323					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGAAGATGACCGCTTGGCA	0.557																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(967-969)Tca>Cca		dolichol kinase							129.0	146.0	141.0					9																	131708616		2203	4300	6503	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708616A>G	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.967T>C	9.37:g.131708616A>G	ENSP00000361667:p.Ser323Pro					RP11-101E3.5_ENST00000482796.1_Intron	p.S323P	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	1282	-			323					Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.967T>C	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625767	0.28889	.	.	ENSG00000175283	ENST00000372586	D	0.84660	-1.88	5.34	2.88	0.33553	.	0.407216	0.22669	N	0.057092	T	0.76176	0.3951	N	0.25485	0.75	0.23406	N	0.997742	B	0.25441	0.126	B	0.28709	0.093	T	0.64833	-0.6314	10	0.48119	T	0.1	-1.0358	10.5923	0.45316	0.6909:0.309:0.0:0.0	.	323	Q9UPQ8	DOLK_HUMAN	P	323	ENSP00000361667:S323P	ENSP00000361667:S323P	S	-	1	0	DOLK	130748437	0.999000	0.42202	0.959000	0.39883	0.970000	0.65996	3.698000	0.54771	0.287000	0.22375	0.379000	0.24179	TCA		0.557	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		239	970	0	0	0	1	0	239	970				
SCN7A	6332	broad.mit.edu	37	2	167262858	167262858	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262858A>C	ENST00000409855.1	-	25	4407	c.4281T>G	c.(4279-4281)ctT>ctG	p.L1427L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1427					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CAACTTGAAAAAGACAGAGCA	0.363																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4279-4281)ctT>ctG		sodium channel, voltage-gated, type VII, alpha subunit							182.0	174.0	177.0					2																	167262858		1891	4141	6032	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262858A>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4281T>G	2.37:g.167262858A>C							p.L1427L	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4407	-			1427						Silent	SNP	ENST00000409855.1	37	c.4281T>G	CCDS46442.1																																																																																				0.363	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			130	726	0	0	0	1	0	130	726				
ZNF264	9422	broad.mit.edu	37	19	57716805	57716805	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57716805G>T	ENST00000263095.6	+	3	615	c.201G>T	c.(199-201)gaG>gaT	p.E67D	ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GCCACCTAGAGCATGGGCAGG	0.522																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(199-201)gaG>gaT		zinc finger protein 264							60.0	48.0	52.0					19																	57716805		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57716805G>T	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.201G>T	19.37:g.57716805G>T	ENSP00000263095:p.Glu67Asp					ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	p.E67D	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	3	615	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	67			KRAB.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.201G>T	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511876	0.12944	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.01113	5.32;5.32	2.62	-2.2	0.06994	Krueppel-associated box (3);	.	.	.	.	T	0.01156	0.0038	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45086	-0.9285	9	0.56958	D	0.05	.	3.385	0.07268	0.4793:0.0:0.331:0.1897	.	67	O43296	ZN264_HUMAN	D	67	ENSP00000263095:E67D;ENSP00000440376:E67D	ENSP00000263095:E67D	E	+	3	2	ZNF264	62408617	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	-0.410000	0.07151	-0.380000	0.07894	-1.863000	0.00559	GAG		0.522	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			19	62	1	0	3.5997e-14	1	3.90403e-14	19	62				
ZFHX3	463	broad.mit.edu	37	16	72821392	72821392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821392C>T	ENST00000268489.5	-	10	11455	c.10783G>A	c.(10783-10785)Gac>Aac	p.D3595N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3595					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGGGCTGTCGTTTGAGTGA	0.642																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10783-10785)Gac>Aac		zinc finger homeobox 3							147.0	120.0	129.0					16																	72821392		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821392C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10783G>A	16.37:g.72821392C>T	ENSP00000268489:p.Asp3595Asn					ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N	p.D3595N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11455	-		Ovarian(137;0.13)	3595					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10783G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173645	0.38413	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.29142	1.58;1.58	3.95	3.95	0.45737	.	0.000000	0.49305	D	0.000151	T	0.10035	0.0246	N	0.01048	-1.04	0.44092	D	0.996856	B	0.15473	0.013	B	0.04013	0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	16.3601	0.83259	0.0:1.0:0.0:0.0	.	3595	Q15911	ZFHX3_HUMAN	N	3595;2681	ENSP00000268489:D3595N;ENSP00000438926:D2681N	ENSP00000268489:D3595N	D	-	1	0	ZFHX3	71378893	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.800000	0.27042	1.914000	0.55421	0.557000	0.71058	GAC		0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		165	415	0	0	0	1	0	165	415				
DNAAF2	55172	broad.mit.edu	37	14	50094868	50094868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50094868C>T	ENST00000298292.8	-	2	1949	c.1869G>A	c.(1867-1869)agG>agA	p.R623R	RP11-649E7.7_ENST00000556657.1_RNA|DNAAF2_ENST00000406043.3_Intron	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	623					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TGACAAATAACCTTTCCTAAA	0.358																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(1867-1869)agG>agA		dynein, axonemal, assembly factor 2							34.0	34.0	34.0					14																	50094868		2202	4298	6500	SO:0001819	synonymous_variant	0				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50094868C>T	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1869G>A	14.37:g.50094868C>T						DNAAF2_ENST00000406043.3_Intron	p.R623R	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			2	1949	-			623					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	c.1869G>A	CCDS9691.2																																																																																				0.358	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			6	36	0	0	0	1	0	6	36				
MAP3K1	4214	broad.mit.edu	37	5	56177726	56177726	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177726G>T	ENST00000399503.3	+	14	2699	c.2699G>T	c.(2698-2700)aGt>aTt	p.S900I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	900				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAGAGAACAGTTCCCCTGAG	0.473																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2698-2700)aGt>aTt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							70.0	65.0	66.0					5																	56177726		1922	4134	6056	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177726G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2699G>T	5.37:g.56177726G>T	ENSP00000382423:p.Ser900Ile						p.S900I	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	2699	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	900	DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073).					Missense_Mutation	SNP	ENST00000399503.3	37	c.2699G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	1.443	-0.567040	0.03910	.	.	ENSG00000095015	ENST00000399503	T	0.35048	1.33	5.21	1.89	0.25635	.	1.227700	0.06049	N	0.656229	T	0.24431	0.0592	L	0.29908	0.895	0.09310	N	1	B	0.33448	0.412	B	0.30855	0.121	T	0.29088	-1.0023	10	0.52906	T	0.07	.	2.8169	0.05458	0.3889:0.236:0.375:0.0	.	900	Q13233	M3K1_HUMAN	I	900	ENSP00000382423:S900I	ENSP00000382423:S900I	S	+	2	0	MAP3K1	56213483	0.987000	0.35691	0.002000	0.10522	0.001000	0.01503	2.621000	0.46418	0.688000	0.31529	-0.126000	0.14955	AGT		0.473	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		61	216	1	0	1.08141e-31	1	1.27425e-31	61	216				
TXNDC16	57544	broad.mit.edu	37	14	52957612	52957612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52957612C>T	ENST00000281741.4	-	10	1239	c.868G>A	c.(868-870)Gca>Aca	p.A290T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	290					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACCCATTCTGCAGTTCTTCTA	0.393																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(868-870)Gca>Aca		thioredoxin domain containing 16							112.0	114.0	113.0					14																	52957612		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52957612C>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.868G>A	14.37:g.52957612C>T	ENSP00000281741:p.Ala290Thr					TXNDC16_ENST00000554399.1_Intron	p.A290T	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			10	1239	-	Breast(41;0.0716)		290					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.868G>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950519	0.92660	.	.	ENSG00000087301	ENST00000281741	T	0.24908	1.83	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.71581	2.175	0.51012	D	0.999903	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.869	T	0.43130	-0.9410	10	0.42905	T	0.14	-20.0312	17.16	0.86801	0.0:1.0:0.0:0.0	.	285;290	B7ZME4;Q9P2K2	.;TXD16_HUMAN	T	290	ENSP00000281741:A290T	ENSP00000281741:A290T	A	-	1	0	TXNDC16	52027362	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.958000	0.63660	2.709000	0.92574	0.655000	0.94253	GCA		0.393	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		81	436	0	0	0	1	0	81	436				
CHAF1B	8208	broad.mit.edu	37	21	37769717	37769717	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37769717A>G	ENST00000314103.5	+	6	637	c.486A>G	c.(484-486)caA>caG	p.Q162Q	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	162					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTGTAGGACAAAAGATATCAA	0.353																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(484-486)caA>caG		chromatin assembly factor 1, subunit B (p60)							46.0	48.0	47.0					21																	37769717		2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37769717A>G	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.486A>G	21.37:g.37769717A>G						CHAF1B_ENST00000480486.1_3'UTR	p.Q162Q	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			6	637	+			162					Q99548	Silent	SNP	ENST00000314103.5	37	c.486A>G	CCDS13644.1																																																																																				0.353	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		10	146	0	0	0	1	0	10	146				
KRT28	162605	broad.mit.edu	37	17	38949454	38949454	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38949454G>A	ENST00000306658.7	-	7	1270	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTTTGATTTGGAGCATGAACT	0.284																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1204-1206)tCc>tTc		keratin 28							25.0	26.0	25.0					17																	38949454		2196	4299	6495	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38949454G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1205C>T	17.37:g.38949454G>A	ENSP00000305263:p.Ser402Phe						p.S402F	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			7	1270	-		Breast(137;0.000301)	402			Tail.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1205C>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929205	0.34096	.	.	ENSG00000173908	ENST00000306658	D	0.83673	-1.75	5.35	5.35	0.76521	.	0.222774	0.32231	N	0.006397	T	0.66208	0.2766	N	0.08118	0	0.36858	D	0.888237	B	0.06786	0.001	B	0.09377	0.004	T	0.64123	-0.6481	10	0.12103	T	0.63	.	14.4247	0.67207	0.0:0.0:1.0:0.0	.	402	Q7Z3Y7	K1C28_HUMAN	F	402	ENSP00000305263:S402F	ENSP00000305263:S402F	S	-	2	0	KRT28	36202980	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	3.153000	0.50685	2.777000	0.95525	0.655000	0.94253	TCC		0.284	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		10	51	0	0	0	1	0	10	51				
C1QL2	165257	broad.mit.edu	37	2	119914429	119914429	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119914429G>A	ENST00000272520.3	-	2	1432	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	271	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGTTATTATTGCCTCCGTGAG	0.612										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(811-813)ggC>ggT		complement component 1, q subcomponent-like 2							164.0	177.0	173.0					2																	119914429		2197	4296	6493	SO:0001819	synonymous_variant	165257					collagen		g.chr2:119914429G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.813C>T	2.37:g.119914429G>A		HNSCC(49;0.14)					p.G271G	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			2	1432	-			271			C1q.			Silent	SNP	ENST00000272520.3	37	c.813C>T	CCDS42737.1																																																																																				0.612	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		71	782	0	0	0	1	0	71	782				
ABL2	27	broad.mit.edu	37	1	179112077	179112077	+	Intron	SNP	C	C	T	rs376770494		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179112077C>T	ENST00000502732.1	-	2	361				ABL2_ENST00000392043.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.D35N|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000344730.3_Missense_Mutation_p.D35N|ABL2_ENST00000504405.1_Missense_Mutation_p.D35N|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.D35N|ABL2_ENST00000507173.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase						actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTGTTAAGTCGGGTAGAGCA	0.433			T	ETV6	AML								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19071	0.0		0.0	False		,,,				2504	0.0					ENST00000408940.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(103-105)Gac>Aac		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	C	ASN/ASP,,,,,ASN/ASP,ASN/ASP,	4,3836		0,4,1916	94.0	92.0	93.0		103,,,,,103,103,	-6.4	0.0	1		93	0,8258		0,0,4129	no	missense,intron,intron,intron,intron,missense,missense,intron	ABL2	NM_001136000.2,NM_001136001.1,NM_001168236.1,NM_001168237.1,NM_001168238.1,NM_001168239.1,NM_005158.4,NM_007314.3	23,,,,,23,23,	0,4,6045	TT,TC,CC		0.0,0.1042,0.0331	benign,,,,,benign,benign,	35/1065,,,,,35/1044,35/1168,	179112077	4,12094	1920	4129	6049	SO:0001627	intron_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179112077C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.158-9568G>A	1.37:g.179112077C>T						ABL2_ENST00000344730.3_Missense_Mutation_p.D35N|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.D35N|ABL2_ENST00000504405.1_Missense_Mutation_p.D35N|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron	p.D35N	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN			1	102	-			0			CAP.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.103G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.854590	0.00558	0.001042	0.0	ENSG00000143322	ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405	T;T;T;T	0.73897	-0.75;-0.79;-0.77;-0.75	5.34	-6.4	0.01944	.	.	.	.	.	T	0.50956	0.1646	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0;0.001	T	0.40997	-0.9533	8	0.14252	T	0.57	.	10.5645	0.45165	0.0:0.1763:0.1081:0.7155	.	35;35;35;35;35;35	P42684-4;P42684-9;P42684-2;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.	N	35	ENSP00000386152:D35N;ENSP00000339209:D35N;ENSP00000423578:D35N;ENSP00000426831:D35N	ENSP00000339209:D35N	D	-	1	0	ABL2	177378700	0.021000	0.18746	0.000000	0.03702	0.038000	0.13279	-0.714000	0.05002	-1.094000	0.03054	-0.812000	0.03155	GAC		0.433	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		33	168	0	0	0	1	0	33	168				
FREM2	341640	broad.mit.edu	37	13	39262809	39262809	+	Missense_Mutation	SNP	G	G	A	rs533045176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262809G>A	ENST00000280481.7	+	1	1544	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	443					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R443Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGTCACCCGGAATACCGGT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17008	0.001		0.0	False		,,,				2504	0.0					ENST00000280481.7																			1	Substitution - Missense(1)	p.R443Q(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1327-1329)cGg>cAg		FRAS1 related extracellular matrix protein 2							63.0	71.0	68.0					13																	39262809		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262809G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1328G>A	13.37:g.39262809G>A	ENSP00000280481:p.Arg443Gln						p.R443Q	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1544	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	443					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1328G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667568	0.67814	.	.	ENSG00000150893	ENST00000280481	T	0.19532	2.14	5.76	5.76	0.90799	.	0.055642	0.64402	D	0.000002	T	0.22166	0.0534	L	0.39633	1.23	0.58432	D	0.999996	D	0.58620	0.983	P	0.45232	0.474	T	0.00745	-1.1584	10	0.30078	T	0.28	.	15.5538	0.76173	0.0:0.0:0.8615:0.1385	.	443	Q5SZK8	FREM2_HUMAN	Q	443	ENSP00000280481:R443Q	ENSP00000280481:R443Q	R	+	2	0	FREM2	38160809	0.828000	0.29307	0.999000	0.59377	0.971000	0.66376	3.651000	0.54431	2.724000	0.93272	0.561000	0.74099	CGG		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		80	353	0	0	0	1	0	80	353				
MIPOL1	145282	broad.mit.edu	37	14	37737973	37737973	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37737973A>G	ENST00000327441.7	+	6	828	c.362A>G	c.(361-363)gAt>gGt	p.D121G	MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000539174.2_3'UTR	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	121						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAAGAATTGGATATTCTCAGA	0.313																																						ENST00000327441.7																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(361-363)gAt>gGt		mirror-image polydactyly 1							83.0	88.0	86.0					14																	37737973		2201	4288	6489	SO:0001583	missense	145282							g.chr14:37737973A>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.362A>G	14.37:g.37737973A>G	ENSP00000333539:p.Asp121Gly					MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G	p.D121G	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	6	828	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		121					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.362A>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442142	0.83993	.	.	ENSG00000151338	ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.56776	0.48;0.48;0.44;0.48;0.48;0.44	5.51	5.51	0.81932	.	0.243144	0.39146	N	0.001447	T	0.58935	0.2157	L	0.48642	1.525	0.80722	D	1	P;P	0.51449	0.57;0.945	B;P	0.52909	0.364;0.713	T	0.60146	-0.7320	10	0.49607	T	0.09	-2.1235	15.2974	0.73919	1.0:0.0:0.0:0.0	.	121;90	Q8TD10;Q49AL5	MIPO1_HUMAN;.	G	121;90;90;121;121;121;90	ENSP00000333539:D121G;ENSP00000438319:D90G;ENSP00000450479:D90G;ENSP00000379589:D121G;ENSP00000444254:D121G;ENSP00000442529:D90G	ENSP00000333539:D121G	D	+	2	0	MIPOL1	36807724	1.000000	0.71417	0.972000	0.41901	0.910000	0.53928	5.720000	0.68470	2.084000	0.62774	0.482000	0.46254	GAT		0.313	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		36	394	0	0	0	1	0	36	394				
FNBP1L	54874	broad.mit.edu	37	1	93998513	93998513	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998513A>C	ENST00000271234.7	+	8	825	c.674A>C	c.(673-675)aAa>aCa	p.K225T	FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T|FNBP1L_ENST00000370253.2_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000260506.8_Missense_Mutation_p.K225T	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	225	F-BAR domain. {ECO:0000250}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGACTATTAAACTCAGTGAG	0.323																																						ENST00000260506.8																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(673-675)aAa>aCa		formin binding protein 1-like							80.0	72.0	74.0					1																	93998513		1831	4096	5927	SO:0001583	missense	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:93998513A>C		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.674A>C	1.37:g.93998513A>C	ENSP00000271234:p.Lys225Thr					FNBP1L_ENST00000271234.7_Missense_Mutation_p.K225T|FNBP1L_ENST00000370253.2_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T	p.K225T	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	8	825	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	225			Induction of membrane tubulation (By similarity).		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	c.674A>C	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595502	0.86953	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.63843	1.955	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.865	D;D;B	0.87578	0.994;0.998;0.408	T	0.03739	-1.1008	10	0.36615	T	0.2	-19.1227	15.7725	0.78180	1.0:0.0:0.0:0.0	.	45;225;225	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	T	225;225;225;225;92	ENSP00000359278:K225T;ENSP00000271234:K225T;ENSP00000260506:K225T;ENSP00000359275:K225T	ENSP00000260506:K225T	K	+	2	0	FNBP1L	93771101	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.678000	0.91211	2.131000	0.65755	0.482000	0.46254	AAA		0.323	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		16	127	0	0	0	1	0	16	127				
ADCK4	79934	broad.mit.edu	37	19	41201931	41201931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41201931C>T	ENST00000324464.3	-	13	1473	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q|ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	391	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCCAAACTCCCGGCTTGCACC	0.562																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(1171-1173)cGg>cAg		aarF domain containing kinase 4							145.0	134.0	138.0					19																	41201931		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41201931C>T	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1172G>A	19.37:g.41201931C>T	ENSP00000315118:p.Arg391Gln					ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q|ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q	p.R391Q	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		13	1473	-			391			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.1172G>A	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404456	0.83230	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.68025	-0.3;-0.3;-0.3	4.78	3.75	0.43078	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.85630	2.765	0.53005	D	0.999967	D;P	0.60575	0.988;0.931	P;P	0.45195	0.473;0.468	T	0.77487	-0.2569	10	0.87932	D	0	-24.933	11.8167	0.52216	0.0:0.9133:0.0:0.0867	.	391;350	Q96D53;Q96D53-2	ADCK4_HUMAN;.	Q	391;350;350	ENSP00000315118:R391Q;ENSP00000412839:R350Q;ENSP00000243583:R350Q	ENSP00000243583:R350Q	R	-	2	0	ADCK4	45893771	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	5.595000	0.67563	1.245000	0.43885	0.561000	0.74099	CGG		0.562	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		120	644	0	0	0	1	0	120	644				
DFFB	1677	broad.mit.edu	37	1	3800135	3800135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3800135G>T	ENST00000378209.3	+	7	1170	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	283					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGATGGAAGAGAAGTGGACTG	0.413																																						ENST00000378209.3																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(847-849)Gaa>Taa		DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)							192.0	182.0	186.0					1																	3800135		2203	4300	6503	SO:0001587	stop_gained	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3800135G>T		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.847G>T	1.37:g.3800135G>T	ENSP00000367454:p.Glu283*						p.E283*	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1170	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	283					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	ENST00000378209.3	37	c.847G>T	CCDS52.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017598	0.97205	.	.	ENSG00000169598	ENST00000378209;ENST00000339350;ENST00000378206	.	.	.	5.3	5.3	0.74995	.	0.155202	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-23.2552	17.9466	0.89040	0.0:0.0:1.0:0.0	.	.	.	.	X	283;219;219	.	ENSP00000343218:E219X	E	+	1	0	DFFB	3789995	0.995000	0.38212	0.136000	0.22124	0.031000	0.12232	2.836000	0.48183	2.467000	0.83353	0.655000	0.94253	GAA		0.413	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		11	571	1	0	5.50884e-06	1	5.65664e-06	11	571				
SRI	6717	broad.mit.edu	37	7	87838718	87838718	+	Silent	SNP	G	G	A	rs150714131	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87838718G>A	ENST00000265729.2	-	6	499	c.447C>T	c.(445-447)agC>agT	p.S149S	SRI_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000431660.1_Silent_p.S134S|SRI_ENST00000490437.1_Silent_p.S106S|SRI_ENST00000394641.3_Silent_p.S134S	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					TTCCATTGGTGCTGTATCGTT	0.448													G|||	4	0.000798722	0.003	0.0	5008	,	,		14263	0.0		0.0	False		,,,				2504	0.0					ENST00000265729.2																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(445-447)agC>agT		sorcin		G	,	4,4402	8.1+/-20.4	0,4,2199	191.0	159.0	170.0		447,402	4.1	1.0	7	dbSNP_134	170	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SRI	NM_003130.2,NM_198901.1	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	149/199,134/184	87838718	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87838718G>A	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.447C>T	7.37:g.87838718G>A						SRI_ENST00000490437.1_Silent_p.S106S|SRI_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000394641.3_Silent_p.S134S|SRI_ENST00000431660.1_Silent_p.S134S	p.S149S	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN			6	499	-	Esophageal squamous(14;0.00202)		149			EF-hand 4.		A8MTH6|B4DKK2|D6W5Q0	Silent	SNP	ENST00000265729.2	37	c.447C>T	CCDS5612.1																																																																																				0.448	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		70	242	0	0	0	1	0	70	242				
PIK3C2B	5287	broad.mit.edu	37	1	204394128	204394128	+	Missense_Mutation	SNP	C	C	T	rs370165316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204394128C>T	ENST00000367187.3	-	34	5313	c.4757G>A	c.(4756-4758)cGg>cAg	p.R1586Q	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1586	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGGAGCTCCCGCTGCTGCAG	0.572																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(4756-4758)cGg>cAg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		C	GLN/ARG	0,4406		0,0,2203	68.0	57.0	61.0		4757	5.3	1.0	1		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C2B	NM_002646.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1586/1635	204394128	1,13005	2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204394128C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4757G>A	1.37:g.204394128C>T	ENSP00000356155:p.Arg1586Gln					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q|RP11-739N20.2_ENST00000443515.1_RNA	p.R1586Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		34	5313	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1586			C2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.4757G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965639	0.92855	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.78595	-1.19;-1.19	5.26	5.26	0.73747	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.64080	1.96	0.43408	D	0.995544	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.87946	0.2720	10	0.72032	D	0.01	.	18.464	0.90749	0.0:1.0:0.0:0.0	.	1558;1586	F5GWN5;O00750	.;P3C2B_HUMAN	Q	1586;1558	ENSP00000356155:R1586Q;ENSP00000400561:R1558Q	ENSP00000356155:R1586Q	R	-	2	0	PIK3C2B	202660751	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.775000	0.85489	2.465000	0.83290	0.655000	0.94253	CGG		0.572	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		33	124	0	0	0	1	0	33	124				
BASP1	10409	broad.mit.edu	37	5	17275470	17275470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17275470G>A	ENST00000322611.3	+	2	405	c.145G>A	c.(145-147)Gcc>Acc	p.A49T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	49					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						CGCAGAGCCCGCCGAGGCCAA	0.697																																						ENST00000322611.3																			0				endometrium(1)|lung(8)	9						c.(145-147)Gcc>Acc		brain abundant, membrane attached signal protein 1							17.0	23.0	21.0					5																	17275470		2171	4251	6422	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275470G>A	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.145G>A	5.37:g.17275470G>A	ENSP00000319281:p.Ala49Thr						p.A49T	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN			2	405	+			49					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.145G>A	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	3.895	-0.023250	0.07634	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.37235	1.21	4.57	-2.57	0.06248	.	0.106078	0.39687	N	0.001289	T	0.06050	0.0157	N	0.00368	-1.59	0.22811	N	0.998704	B	0.09022	0.002	B	0.11329	0.006	T	0.36915	-0.9728	10	0.02654	T	1	1.1939	5.7382	0.18079	0.4852:0.1426:0.3722:0.0	.	49	P80723	BASP1_HUMAN	T	49	ENSP00000319281:A49T	ENSP00000319281:A49T	A	+	1	0	BASP1	17328470	0.000000	0.05858	0.008000	0.14137	0.730000	0.41778	-0.936000	0.03946	-0.514000	0.06488	0.455000	0.32223	GCC		0.697	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			19	89	0	0	0	1	0	19	89				
SNW1	22938	broad.mit.edu	37	14	78221419	78221419	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78221419G>T	ENST00000261531.7	-	2	121	c.59C>A	c.(58-60)gCt>gAt	p.A20D	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A20D	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	20					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTTTCTTCAGCCTCAAGCTG	0.453																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(58-60)gCt>gAt		SNW domain containing 1							69.0	60.0	63.0					14																	78221419		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78221419G>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.59C>A	14.37:g.78221419G>T	ENSP00000261531:p.Ala20Asp					SNW1_ENST00000555761.1_Missense_Mutation_p.A20D|SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron	p.A20D	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	2	121	-			20					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.59C>A	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671489	0.47781	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	6.04	6.04	0.98038	.	0.145914	0.64402	D	0.000009	T	0.41373	0.1156	N	0.26042	0.785	0.58432	D	0.999999	B;B	0.24186	0.001;0.099	B;B	0.19946	0.002;0.027	T	0.27502	-1.0072	9	0.14252	T	0.57	.	11.4594	0.50202	0.1068:0.0:0.8932:0.0	.	20;20	G3V3A4;Q13573	.;SNW1_HUMAN	D	20	.	ENSP00000261531:A20D	A	-	2	0	SNW1	77291172	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.028000	0.70889	2.873000	0.98535	0.561000	0.74099	GCT		0.453	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		25	142	1	0	2.14196e-07	1	2.22428e-07	25	142				
P4HTM	54681	broad.mit.edu	37	3	49042371	49042371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042371G>A	ENST00000383729.4	+	6	1336	c.965G>A	c.(964-966)gGg>gAg	p.G322E	P4HTM_ENST00000343546.4_Missense_Mutation_p.G322E|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	322	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TATGGTGAGGGGGGCCACTAC	0.622																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(964-966)gGg>gAg		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						103.0	86.0	92.0					3																	49042371		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042371G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.965G>A	3.37:g.49042371G>A	ENSP00000373235:p.Gly322Glu					P4HTM_ENST00000383729.4_Missense_Mutation_p.G322E	p.G322E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			6	1333	+			322			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.965G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606911	0.87157	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.69175	-0.38	5.29	4.41	0.53225	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.103605	0.64402	D	0.000003	D	0.83922	0.5359	M	0.90595	3.13	0.51482	D	0.999927	D;D	0.64830	0.966;0.994	P;D	0.67900	0.875;0.954	D	0.87471	0.2414	10	0.66056	D	0.02	-3.3372	15.3609	0.74472	0.0:0.0:0.8593:0.1406	.	322;322	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	E	322	ENSP00000373235:G322E	ENSP00000341422:G322E	G	+	2	0	P4HTM	49017375	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.430000	0.97488	1.231000	0.43661	0.650000	0.86243	GGG		0.622	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		77	345	0	0	0	1	0	77	345				
RAD21	5885	broad.mit.edu	37	8	117864941	117864941	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864941T>C	ENST00000297338.2	-	10	1455	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	390	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGACAGCGTGTAAAGAGCtat	0.308																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1168-1170)Aca>Gca		RAD21 homolog (S. pombe)							58.0	57.0	57.0					8																	117864941		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117864941T>C	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1168A>G	8.37:g.117864941T>C	ENSP00000297338:p.Thr390Ala						p.T390A	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			10	1455	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		390			Interaction with STAG1.|Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1168A>G	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099247	0.56183	.	.	ENSG00000164754	ENST00000297338	T	0.65732	-0.17	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	L	0.56396	1.775	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.67795	-0.5578	10	0.08381	T	0.77	0.1095	15.669	0.77258	0.0:0.0:0.0:1.0	.	390	O60216	RAD21_HUMAN	A	390	ENSP00000297338:T390A	ENSP00000297338:T390A	T	-	1	0	RAD21	117934122	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.952000	0.70282	2.092000	0.63282	0.460000	0.39030	ACA		0.308	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		69	226	0	0	0	1	0	69	226				
GJD4	219770	broad.mit.edu	37	10	35896742	35896742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35896742G>A	ENST00000321660.1	+	2	459	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	101					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCACCGAGGAGCCACGCTCGC	0.746																																						ENST00000321660.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(301-303)Gcc>Acc		gap junction protein, delta 4, 40.1kDa							50.0	43.0	45.0					10																	35896742		2203	4300	6503	SO:0001583	missense	219770				cell communication	connexon complex|integral to membrane		g.chr10:35896742G>A	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.301G>A	10.37:g.35896742G>A	ENSP00000315070:p.Ala101Thr						p.A101T	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN			2	459	+			101					Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	c.301G>A	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594813	0.46318	.	.	ENSG00000177291	ENST00000321660	D	0.97752	-4.52	6.11	-0.15	0.13416	.	0.885835	0.10230	N	0.699820	D	0.94522	0.8236	L	0.60067	1.865	0.09310	N	1	B	0.32324	0.364	B	0.27170	0.077	D	0.87133	0.2198	10	0.34782	T	0.22	.	4.7058	0.12849	0.2524:0.0:0.5118:0.2359	.	101	Q96KN9	CXD4_HUMAN	T	101	ENSP00000315070:A101T	ENSP00000315070:A101T	A	+	1	0	GJD4	35936748	0.035000	0.19736	0.000000	0.03702	0.013000	0.08279	1.566000	0.36396	-0.280000	0.09154	0.655000	0.94253	GCC		0.746	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		66	283	0	0	0	1	0	66	283				
FBN1	2200	broad.mit.edu	37	15	48779509	48779509	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779509C>T	ENST00000316623.5	-	28	3918	c.3463G>A	c.(3463-3465)Gac>Aac	p.D1155N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1155	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		D -> N (in MFS). {ECO:0000269|PubMed:14695540}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCTCCTTACCGATACACGCG	0.473																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM960637	FBN1	M		c.e28+1		fibrillin 1							93.0	94.0	94.0					15																	48779509		2198	4296	6494	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48779509C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3463+1G>A	15.37:g.48779509C>T							p.D1155_splice	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	28	3918	-		all_lung(180;0.00279)	1155		D -> N (in MFS).	EGF-like 18; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37	c.3463_splice	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045556	0.93685	.	.	ENSG00000166147	ENST00000316623	D	0.99051	-5.37	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.095797	0.64402	D	0.000001	D	0.99351	0.9772	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99323	1.0907	9	.	.	.	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1155	P35555	FBN1_HUMAN	N	1155	ENSP00000325527:D1155N	.	D	-	1	0	FBN1	46566801	1.000000	0.71417	0.963000	0.40424	0.409000	0.31022	5.775000	0.68915	2.639000	0.89480	0.655000	0.94253	GAC		0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Missense_Mutation	72	276	0	0	0	1	0	72	276				
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(742-744)Gcc>Acc		keratin 33A							65.0	59.0	61.0					17																	39503321		2203	4296	6499	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503321C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.742G>A	17.37:g.39503321C>T	ENSP00000007735:p.Ala248Thr						p.A248T	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			4	786	-		Breast(137;0.000496)	248			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.742G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	1.714	-0.498453	0.04291	.	.	ENSG00000006059	ENST00000007735	D	0.88741	-2.42	4.41	-0.427	0.12310	Filament (1);	0.385342	0.25264	N	0.031925	T	0.65037	0.2653	N	0.01505	-0.83	0.28797	N	0.898975	B	0.06786	0.001	B	0.06405	0.002	T	0.57423	-0.7814	10	0.17369	T	0.5	.	5.9195	0.19073	0.0:0.3508:0.1481:0.5011	.	248	O76009	KT33A_HUMAN	T	248	ENSP00000007735:A248T	ENSP00000007735:A248T	A	-	1	0	KRT33A	36756847	0.000000	0.05858	0.695000	0.30226	0.567000	0.35839	-1.415000	0.02469	-0.209000	0.10156	-0.471000	0.05019	GCC		0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		29	286	0	0	0	1	0	29	286				
LTBP3	4054	broad.mit.edu	37	11	65308385	65308385	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65308385G>T	ENST00000301873.5	-	21	3202	c.2934C>A	c.(2932-2934)acC>acA	p.T978T	LTBP3_ENST00000536982.1_Silent_p.T604T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Silent_p.T978T|LTBP3_ENST00000532932.1_Silent_p.T408T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	978					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTTGTCCTGGGTGTAGCCCT	0.706											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2932-2934)acC>acA		latent transforming growth factor beta binding protein 3							128.0	112.0	118.0					11																	65308385		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65308385G>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2934C>A	11.37:g.65308385G>T			OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000536982.1_Silent_p.T604T|LTBP3_ENST00000322147.4_Silent_p.T978T|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.T408T|LTBP3_ENST00000530785.1_5'UTR	p.T978T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			21	3202	-			978					O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.2934C>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469160	0.26423	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.45	2.47	0.30058	.	.	.	.	.	T	0.45377	0.1339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	.	2.5657	0.04783	0.1095:0.1875:0.5105:0.1926	.	.	.	.	T	629	.	.	P	-	1	0	LTBP3	65064961	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	0.141000	0.16076	0.280000	0.22209	0.455000	0.32223	CCA		0.706	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		18	102	1	0	6.33239e-15	1	6.89894e-15	18	102				
CORIN	10699	broad.mit.edu	37	4	47788906	47788906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47788906C>T	ENST00000273857.4	-	3	244	c.245G>A	c.(244-246)aGt>aAt	p.S82N	CORIN_ENST00000502252.1_Intron|CORIN_ENST00000505909.1_Missense_Mutation_p.S82N|CORIN_ENST00000504584.1_Missense_Mutation_p.S82N|CORIN_ENST00000508498.1_De_novo_Start_OutOfFrame	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	82					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAAAGGTTCACTCCCATTTGA	0.348																																						ENST00000508498.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79								corin, serine peptidase							70.0	65.0	67.0					4																	47788906		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47788906C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.245G>A	4.37:g.47788906C>T	ENSP00000273857:p.Ser82Asn					CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.S82N|CORIN_ENST00000273857.4_Missense_Mutation_p.S82N|CORIN_ENST00000505909.1_Missense_Mutation_p.S82N				Q9Y5Q5	CORIN_HUMAN			0	76	-								B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Translation_Start_Site	SNP	ENST00000273857.4	37		CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889134	0.33348	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.93712	-2.74;-2.65;-3.27	4.78	3.93	0.45458	.	0.273464	0.34628	N	0.003803	D	0.89389	0.6701	N	0.20986	0.625	0.32522	N	0.53616	P;P;P	0.48764	0.915;0.888;0.627	B;P;B	0.47102	0.397;0.537;0.196	D	0.91141	0.4945	10	0.62326	D	0.03	.	11.2784	0.49180	0.0:0.8161:0.1839:0.0	.	82;82;82	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	N	82	ENSP00000273857:S82N;ENSP00000425401:S82N;ENSP00000423216:S82N	ENSP00000273857:S82N	S	-	2	0	CORIN	47483663	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	2.087000	0.41653	1.385000	0.46445	0.558000	0.71614	AGT		0.348	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			33	139	0	0	0	1	0	33	139				
DOK5	55816	broad.mit.edu	37	20	53227033	53227033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53227033C>T	ENST00000262593.5	+	6	1056	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	236	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCAGCACGAGCGCTTGCTACA	0.507																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(706-708)Cgc>Tgc		docking protein 5							71.0	65.0	67.0					20																	53227033		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53227033C>T	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.706C>T	20.37:g.53227033C>T	ENSP00000262593:p.Arg236Cys					DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	p.R236C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		6	1056	+			236			IRS-type PTB.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.706C>T	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961252	0.92791	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.83250	-1.7;-1.7	5.78	5.78	0.91487	Insulin receptor substrate-1, PTB (1);	0.048112	0.85682	D	0.000000	D	0.89687	0.6787	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.975	P;B	0.57846	0.828;0.232	D	0.90145	0.4216	10	0.66056	D	0.02	-34.542	19.0159	0.92894	0.0:1.0:0.0:0.0	.	128;236	Q9P104-2;Q9P104	.;DOK5_HUMAN	C	236;128	ENSP00000262593:R236C;ENSP00000379270:R128C	ENSP00000262593:R236C	R	+	1	0	DOK5	52660440	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	4.543000	0.60684	2.732000	0.93576	0.655000	0.94253	CGC		0.507	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			43	228	0	0	0	1	0	43	228				
SLC25A47	283600	broad.mit.edu	37	14	100795904	100795904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100795904C>A	ENST00000361529.3	+	6	927	c.849C>A	c.(847-849)tgC>tgA	p.C283*	SLC25A47_ENST00000557052.1_Nonsense_Mutation_p.C137*	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	283					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TCAATTGCTGCCGCGCCTTCC	0.652																																					GBM(11;1289 1351)	ENST00000361529.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(847-849)tgC>tgA		solute carrier family 25, member 47							81.0	89.0	86.0					14																	100795904		2203	4300	6503	SO:0001587	stop_gained	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795904C>A		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.849C>A	14.37:g.100795904C>A	ENSP00000354886:p.Cys283*					SLC25A47_ENST00000557052.1_Nonsense_Mutation_p.C137*	p.C283*	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN			6	927	+			283					B2RP39|Q68CL2|Q6PZD8|Q86U14	Nonsense_Mutation	SNP	ENST00000361529.3	37	c.849C>A	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	39	7.452438	0.98292	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	.	.	.	5.38	2.03	0.26663	.	0.227225	0.46758	D	0.000265	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.2138	8.0378	0.30504	0.0:0.609:0.1141:0.2769	.	.	.	.	X	283;137	.	ENSP00000354886:C283X	C	+	3	2	SLC25A47	99865657	0.104000	0.21937	0.998000	0.56505	0.722000	0.41435	-0.563000	0.05943	0.619000	0.30197	0.555000	0.69702	TGC		0.652	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			151	765	1	0	1.1305e-62	1	1.42512e-62	151	765				
PCDH18	54510	broad.mit.edu	37	4	138452051	138452051	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452051T>C	ENST00000344876.4	-	1	1578	c.1192A>G	c.(1192-1194)Aag>Gag	p.K398E	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATGAAGCTTACAAACTATT	0.343																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1192-1194)Aag>Gag		protocadherin 18							95.0	101.0	99.0					4																	138452051		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452051T>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1192A>G	4.37:g.138452051T>C	ENSP00000355082:p.Lys398Glu					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E	p.K398E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1578	-	all_hematologic(180;0.24)		398			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1192A>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	9.072	0.997051	0.19043	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.146640	0.30593	N	0.009295	T	0.29749	0.0743	N	0.03967	-0.31	0.80722	D	1	B;B;B	0.33022	0.108;0.006;0.394	B;B;B	0.37015	0.153;0.016;0.239	T	0.25502	-1.0130	10	0.21540	T	0.41	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	178;398;398	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	E	398;398;178	ENSP00000355082:K398E;ENSP00000390688:K398E;ENSP00000425903:K178E	ENSP00000355082:K398E	K	-	1	0	PCDH18	138671501	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.823000	0.62694	2.313000	0.78055	0.455000	0.32223	AAG		0.343	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		88	377	0	0	0	1	0	88	377				
EPB41L1	2036	broad.mit.edu	37	20	34778662	34778662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34778662C>T	ENST00000338074.2	+	11	1404	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	415					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCGGCCTGCACCCTTCTTTGA	0.612																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1243-1245)Ccc>Tcc		erythrocyte membrane protein band 4.1-like 1							57.0	51.0	53.0					20																	34778662		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34778662C>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1243C>T	20.37:g.34778662C>T	ENSP00000337168:p.Pro415Ser					EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S	p.P415S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			11	1404	+	Breast(12;0.0239)		415					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1243C>T	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008744	0.93346	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.18	5.18	0.71444	FERM adjacent (FA) (1);	.	.	.	.	D	0.94833	0.8331	M	0.83483	2.645	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	0.999;1.0;0.998;0.998;0.998;0.988	D	0.95367	0.8461	9	0.87932	D	0	.	17.6293	0.88102	0.0:1.0:0.0:0.0	.	415;415;384;318;318;353	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	S	353;318;415;318;353;384;415;415	ENSP00000202028:P353S;ENSP00000363061:P318S;ENSP00000399214:P353S;ENSP00000363057:P384S;ENSP00000337168:P415S;ENSP00000363052:P415S	ENSP00000202028:P353S	P	+	1	0	EPB41L1	34242076	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.776000	0.85560	2.556000	0.86216	0.561000	0.74099	CCC		0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		24	194	0	0	0	1	0	24	194				
NEDD1	121441	broad.mit.edu	37	12	97303532	97303532	+	5'UTR	SNP	G	G	A	rs201249479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97303532G>A	ENST00000266742.4	+	0	334				NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000557644.1_Missense_Mutation_p.A6T|NEDD1_ENST00000429527.2_5'UTR|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000457368.2_5'Flank	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTTGTAGGCGCAGTCATGCA	0.328																																						ENST00000557644.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(16-18)Gca>Aca		neural precursor cell expressed, developmentally down-regulated 1							73.0	71.0	72.0					12																	97303532		2203	4300	6503	SO:0001623	5_prime_UTR_variant	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97303532G>A		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.-6G>A	12.37:g.97303532G>A						NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000429527.2_5'UTR|NEDD1_ENST00000266742.4_5'UTR|NEDD1_ENST00000555114.1_Intron	p.A6T	NM_001135175.1	NP_001128647.1	Q8NHV4	NEDD1_HUMAN			2	162	+			0					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.16G>A	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727406	0.69074	.	.	ENSG00000139350	ENST00000554226;ENST00000557644	T;T	0.48836	1.07;0.8	5.46	3.28	0.37604	.	.	.	.	.	T	0.34861	0.0912	L	0.41236	1.265	0.80722	D	1	B	0.22346	0.068	B	0.21546	0.035	T	0.14839	-1.0458	9	0.52906	T	0.07	.	4.6055	0.12376	0.071:0.1276:0.4372:0.3641	.	6	G3V3F1	.	T	6	ENSP00000450881:A6T;ENSP00000451211:A6T	ENSP00000407964:A6T	A	+	1	0	NEDD1	95827663	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.710000	0.37920	0.433000	0.26313	0.561000	0.74099	GCA		0.328	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			54	215	0	0	0	1	0	54	215				
NCKAP5	344148	broad.mit.edu	37	2	133543008	133543008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133543008C>T	ENST00000409261.1	-	14	1749	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	459										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTGCAGGGGCTCCCCAGGTC	0.468																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1375-1377)aGc>aAc		NCK-associated protein 5							55.0	54.0	54.0					2																	133543008		1878	4102	5980	SO:0001583	missense	344148						protein binding	g.chr2:133543008C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1376G>A	2.37:g.133543008C>T	ENSP00000387128:p.Ser459Asn					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N	p.S459N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	1749	-			459					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1376G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	9.912	1.209740	0.22289	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10573	2.86;2.86	5.38	2.4	0.29515	.	0.181563	0.24942	U	0.034373	T	0.12178	0.0296	L	0.27053	0.805	0.19775	N	0.999957	D	0.58620	0.983	P	0.51453	0.67	T	0.08006	-1.0743	10	0.59425	D	0.04	.	10.4977	0.44788	0.1449:0.4593:0.3958:0.0	.	459	O14513	NCKP5_HUMAN	N	459	ENSP00000387128:S459N;ENSP00000380603:S459N	ENSP00000380603:S459N	S	-	2	0	NCKAP5	133259478	0.002000	0.14202	0.482000	0.27366	0.139000	0.21198	0.826000	0.27407	0.305000	0.22832	0.645000	0.84053	AGC		0.468	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		20	245	0	0	0	1	0	20	245				
RUNDC1	146923	broad.mit.edu	37	17	41143294	41143294	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41143294A>T	ENST00000361677.1	+	5	1415	c.1403A>T	c.(1402-1404)gAg>gTg	p.E468V		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	468	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGGCCCCAGAGGCCATGCAC	0.587																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1402-1404)gAg>gTg		RUN domain containing 1							59.0	58.0	58.0					17																	41143294		2203	4300	6503	SO:0001583	missense	146923							g.chr17:41143294A>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1403A>T	17.37:g.41143294A>T	ENSP00000354622:p.Glu468Val						p.E468V	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1415	+		Breast(137;0.00499)	468			RUN.		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1403A>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879132	0.33162	.	.	ENSG00000198863	ENST00000361677	T	0.18502	2.21	4.92	4.92	0.64577	RUN (2);	0.266944	0.37955	N	0.001880	T	0.06645	0.0170	N	0.08118	0	0.37927	D	0.931873	P	0.38677	0.642	B	0.25614	0.062	T	0.37911	-0.9685	10	0.32370	T	0.25	-24.4041	9.4733	0.38856	0.9171:0.0:0.0829:0.0	.	468	Q96C34	RUND1_HUMAN	V	468	ENSP00000354622:E468V	ENSP00000354622:E468V	E	+	2	0	RUNDC1	38396820	1.000000	0.71417	0.974000	0.42286	0.954000	0.61252	3.290000	0.51755	2.062000	0.61559	0.533000	0.62120	GAG		0.587	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		10	360	0	0	0	1	0	10	360				
KIAA1549	57670	broad.mit.edu	37	7	138602176	138602176	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602176C>T	ENST00000422774.1	-	2	2244	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A	KIAA1549_ENST00000242365.4_Silent_p.A682A|KIAA1549_ENST00000440172.1_Silent_p.A732A			Q9HCM3	K1549_HUMAN	KIAA1549	732	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAACCGTAGACGCTTCAACAA	0.463			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(2194-2196)gcG>gcA		KIAA1549							66.0	64.0	64.0					7																	138602176		1961	4156	6117	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138602176C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2196G>A	7.37:g.138602176C>T						KIAA1549_ENST00000422774.1_Silent_p.A732A|KIAA1549_ENST00000242365.4_Silent_p.A682A	p.A732A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	2244	-			732			Ser-rich.		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.2196G>A	CCDS56513.1																																																																																				0.463	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			51	216	0	0	0	1	0	51	216				
COL11A2	1302	broad.mit.edu	37	6	33144231	33144231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33144231G>T	ENST00000374708.4	-	25	2148	c.1890C>A	c.(1888-1890)taC>taA	p.Y630*	COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.Y716*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	716	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GAGGTCCTGGGTATCCTAGAG	0.572																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2146-2148)taC>taA		collagen, type XI, alpha 2							38.0	39.0	39.0					6																	33144231		1511	2709	4220	SO:0001587	stop_gained	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33144231G>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1890C>A	6.37:g.33144231G>T	ENSP00000363840:p.Tyr630*					COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.Y630*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*	p.Y716*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			27	2375	-			716			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	ENST00000374708.4	37	c.2148C>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	42	9.337532	0.99142	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	.	.	.	4.88	3.11	0.35812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8654	0.24091	0.2806:0.0:0.7194:0.0	.	.	.	.	X	630;716;695;690;669;656;635;609	.	ENSP00000339915:Y716X	Y	-	3	2	COL11A2	33252209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.868000	0.39509	0.675000	0.31264	0.549000	0.68633	TAC		0.572	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			32	125	1	0	4.3181e-19	1	4.80867e-19	32	125				
PRKAB2	5565	broad.mit.edu	37	1	146631222	146631222	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146631222C>A	ENST00000254101.3	-	8	880		c.e8-1		PRKAB2_ENST00000425272.2_Splice_Site|PRKAB2_ENST00000496858.1_Splice_Site	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit						carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TCACACTGTCCTGCAAGGAAA	0.438																																						ENST00000254101.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.e8-1		protein kinase, AMP-activated, beta 2 non-catalytic subunit	Adenosine monophosphate(DB00131)						145.0	125.0	132.0					1																	146631222		2203	4300	6503	SO:0001630	splice_region_variant	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146631222C>A	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.742-1G>T	1.37:g.146631222C>A						PRKAB2_ENST00000425272.2_Splice_Site|PRKAB2_ENST00000496858.1_Splice_Site		NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN			8	880	-	all_hematologic(923;0.0487)							A8K9V5|B4DH06|Q5VXY0	Splice_Site	SNP	ENST00000254101.3	37		CCDS925.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027570	0.75390	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1174	0.86692	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKAB2	145097846	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.608000	0.67654	2.906000	0.99361	0.655000	0.94253	.		0.438	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399	Intron	28	139	1	0	1.88708e-17	1	2.08396e-17	28	139				
JAM2	58494	broad.mit.edu	37	21	27066137	27066137	+	Missense_Mutation	SNP	C	C	T	rs369585750	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27066137C>T	ENST00000480456.1	+	4	861	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_ENST00000312957.5_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V|JAM2_ENST00000400532.1_Missense_Mutation_p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	104	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A104V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGAAGTGATGCGGGGAAATAT	0.388													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20332	0.001		0.0	False		,,,				2504	0.0					ENST00000480456.1																			1	Substitution - Missense(1)	p.A104V(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(310-312)gCg>gTg		junctional adhesion molecule 2		C	VAL/ALA	3,3919		0,3,1958	167.0	168.0	167.0		311	5.6	1.0	21		167	0,8280		0,0,4140	no	missense	JAM2	NM_021219.2	64	0,3,6098	TT,TC,CC		0.0,0.0765,0.0246	probably-damaging	104/299	27066137	3,12199	1961	4140	6101	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27066137C>T	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.311C>T	21.37:g.27066137C>T	ENSP00000420419:p.Ala104Val					JAM2_ENST00000312957.5_Missense_Mutation_p.A104V|JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V	p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			4	861	+			104			Ig-like V-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.311C>T	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683903	0.88639	7.65E-4	0.0	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165192	0.53938	D	0.000058	T	0.77837	0.4190	L	0.50333	1.59	0.42849	D	0.994071	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.98;0.993;0.993;0.949;0.989	T	0.77560	-0.2542	10	0.54805	T	0.06	.	16.5363	0.84373	0.0:1.0:0.0:0.0	.	68;104;104;104;104	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	V	104;104;104;104;104;68	ENSP00000420419:A104V;ENSP00000383376:A104V;ENSP00000318416:A104V;ENSP00000392611:A68V	ENSP00000318416:A104V	A	+	2	0	JAM2	25988008	0.997000	0.39634	0.997000	0.53966	0.910000	0.53928	4.433000	0.59929	2.890000	0.99128	0.655000	0.94253	GCG		0.388	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			81	363	0	0	0	1	0	81	363				
ST8SIA5	29906	broad.mit.edu	37	18	44260357	44260357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44260357C>T	ENST00000315087.7	-	7	1439	c.779G>A	c.(778-780)cGc>cAc	p.R260H	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	260					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTACTTGACGCGGATGGACAC	0.612																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(778-780)cGc>cAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							105.0	60.0	75.0					18																	44260357		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260357C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.779G>A	18.37:g.44260357C>T	ENSP00000321343:p.Arg260His					ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H	p.R260H	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1439	-			260					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.779G>A	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571418	0.96553	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.32272	1.46;1.46;1.46	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.985;0.998	T	0.63892	-0.6534	10	0.22109	T	0.4	-8.1148	19.4172	0.94706	0.0:1.0:0.0:0.0	.	229;296;260	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	H	260;296;229	ENSP00000321343:R260H;ENSP00000445492:R296H;ENSP00000443683:R229H	ENSP00000321343:R260H	R	-	2	0	ST8SIA5	42514355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.094000	0.71431	2.584000	0.87258	0.561000	0.74099	CGC		0.612	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		20	144	0	0	0	1	0	20	144				
USP8	9101	broad.mit.edu	37	15	50786282	50786282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50786282G>A	ENST00000396444.3	+	16	2801	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	USP8_ENST00000307179.4_Silent_p.G821G|USP8_ENST00000433963.1_Silent_p.G821G|USP8_ENST00000425032.3_Silent_p.G715G|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	821	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTTGTTGGGGCATAAAGGTG	0.348																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2461-2463)ggG>ggA		ubiquitin specific peptidase 8							95.0	92.0	93.0					15																	50786282		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50786282G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2463G>A	15.37:g.50786282G>A						USP8_ENST00000307179.4_Silent_p.G821G|USP8_ENST00000396444.3_Silent_p.G821G|USP8_ENST00000425032.3_Silent_p.G715G|RP11-562A8.5_ENST00000560159.1_lincRNA	p.G821G	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	17	2963	+			821					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2463G>A	CCDS10137.1																																																																																				0.348	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		40	316	0	0	0	1	0	40	316				
MPO	4353	broad.mit.edu	37	17	56356920	56356920	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56356920T>C	ENST00000225275.3	-	4	688	c.512A>G	c.(511-513)gAc>gGc	p.D171G	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.D171G	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	171					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCGGTATTTGTCCTGCTCCGG	0.652																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(511-513)gAc>gGc		myeloperoxidase	Cefdinir(DB00535)						35.0	33.0	34.0					17																	56356920		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56356920T>C		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.512A>G	17.37:g.56356920T>C	ENSP00000225275:p.Asp171Gly					MPO_ENST00000225275.3_Missense_Mutation_p.D171G	p.D171G			P05164	PERM_HUMAN			4	688	-			171					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.512A>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450950	0.26074	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72505	-0.66;-0.66	5.04	3.95	0.45737	.	0.304797	0.36101	N	0.002783	T	0.65565	0.2703	M	0.72118	2.19	0.22779	N	0.998745	B	0.31968	0.349	B	0.30316	0.114	T	0.61860	-0.6976	10	0.49607	T	0.09	-28.6647	8.6186	0.33847	0.0:0.0911:0.0:0.9089	.	171	P05164	PERM_HUMAN	G	171	ENSP00000344419:D171G;ENSP00000225275:D171G	ENSP00000225275:D171G	D	-	2	0	MPO	53711919	0.174000	0.23070	0.965000	0.40720	0.175000	0.22909	0.275000	0.18698	1.904000	0.55121	0.379000	0.24179	GAC		0.652	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			37	160	0	0	0	1	0	37	160				
KIAA0195	9772	broad.mit.edu	37	17	73494598	73494598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494598G>A	ENST00000314256.7	+	29	4106	c.3712G>A	c.(3712-3714)Gcc>Acc	p.A1238T	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1238						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCACGGCCGCCCTGATTGT	0.632																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3712-3714)Gcc>Acc		KIAA0195							72.0	66.0	68.0					17																	73494598		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73494598G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3712G>A	17.37:g.73494598G>A	ENSP00000313885:p.Ala1238Thr					KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T	p.A1238T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		29	4106	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1238					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3712G>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823393	0.50739	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96232	-3.95;-3.95	5.26	4.3	0.51218	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.185058	0.45606	N	0.000351	D	0.88175	0.6366	N	0.11427	0.14	0.35385	D	0.790261	P;P;B;P	0.48162	0.906;0.792;0.002;0.826	B;B;B;B	0.37650	0.255;0.063;0.001;0.104	D	0.88180	0.2870	10	0.21540	T	0.41	-20.8489	8.6701	0.34145	0.0762:0.0:0.7733:0.1505	.	1248;1248;1238;1238	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	T	1238;1248	ENSP00000313885:A1238T;ENSP00000364397:A1248T	ENSP00000313885:A1238T	A	+	1	0	KIAA0195	71006193	0.989000	0.36119	0.871000	0.34182	0.991000	0.79684	2.266000	0.43320	1.217000	0.43442	0.467000	0.42956	GCC		0.632	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		52	221	0	0	0	1	0	52	221				
CASR	846	broad.mit.edu	37	3	122002644	122002644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002644G>A	ENST00000490131.1	+	7	2215	c.1843G>A	c.(1843-1845)Gca>Aca	p.A615T	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.A615T|CASR_ENST00000498619.1_Missense_Mutation_p.A625T	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	615					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGGGATCGCACTCACCCT	0.537																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1873-1875)Gca>Aca		calcium-sensing receptor	Cinacalcet(DB01012)						171.0	133.0	146.0					3																	122002644		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002644G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1843G>A	3.37:g.122002644G>A	ENSP00000418685:p.Ala615Thr					CASR_ENST00000296154.5_Missense_Mutation_p.A615T|CASR_ENST00000490131.1_Missense_Mutation_p.A615T	p.A625T	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2311	+			615					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1873G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219855	0.09863	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89343	-2.5;-2.49;-2.5	5.91	5.91	0.95273	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	L	0.35542	1.07	0.58432	D	0.999998	D;P	0.89917	1.0;0.9	D;B	0.79784	0.993;0.167	D	0.85965	0.1473	10	0.10377	T	0.69	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	625;615	E7ENE0;P41180	.;CASR_HUMAN	T	615;625;615	ENSP00000418685:A615T;ENSP00000420194:A625T;ENSP00000296154:A615T	ENSP00000296154:A615T	A	+	1	0	CASR	123485334	1.000000	0.71417	0.949000	0.38748	0.753000	0.42808	6.632000	0.74281	2.804000	0.96469	0.462000	0.41574	GCA		0.537	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		56	285	0	0	0	1	0	56	285				
TNIP3	79931	broad.mit.edu	37	4	122085277	122085277	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122085277C>A	ENST00000509841.1	-	4	313	c.235G>T	c.(235-237)Gca>Tca	p.A79S	TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S|TNIP3_ENST00000454328.1_Missense_Mutation_p.A2S	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ACAAAATGTGCCATGGAAGCT	0.388																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(4-6)Gca>Tca		TNFAIP3 interacting protein 3							110.0	104.0	106.0					4																	122085277		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122085277C>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.235G>T	4.37:g.122085277C>A	ENSP00000426613:p.Ala79Ser					TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S|TNIP3_ENST00000509841.1_Missense_Mutation_p.A79S	p.A2S			Q96KP6	TNIP3_HUMAN			3	231	-			2						Missense_Mutation	SNP	ENST00000509841.1	37	c.4G>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590273	0.66105	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.59364	0.77;0.77;0.28;0.27	4.5	2.71	0.32032	.	0.176081	0.27567	N	0.018781	T	0.51109	0.1655	L	0.57536	1.79	0.09310	N	1	P;P;P	0.46784	0.793;0.884;0.884	B;B;B	0.42738	0.272;0.396;0.256	T	0.49437	-0.8940	10	0.87932	D	0	-4.2012	6.5541	0.22450	0.0:0.7133:0.1842:0.1025	.	72;2;2	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	S	2;2;72;79	ENSP00000057513:A2S;ENSP00000411817:A2S;ENSP00000427106:A72S;ENSP00000426613:A79S	ENSP00000057513:A2S	A	-	1	0	TNIP3	122304727	0.003000	0.15002	0.088000	0.20740	0.334000	0.28698	0.274000	0.18680	0.564000	0.29238	0.650000	0.86243	GCA		0.388	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		8	374	1	0	3.09899e-07	1	3.21319e-07	8	374				
EP400	57634	broad.mit.edu	37	12	132475998	132475998	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132475998T>C	ENST00000333577.4	+	11	2893	c.2784T>C	c.(2782-2784)tcT>tcC	p.S928S	EP400_ENST00000332482.4_Silent_p.S855S|EP400_ENST00000389561.2_Silent_p.S892S|EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000330386.6_Silent_p.S892S			Q96L91	EP400_HUMAN	E1A binding protein p400	928					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAAAGTTCTCTGGTAAGTT	0.488																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2782-2784)tcT>tcC		E1A binding protein p400							167.0	170.0	169.0					12																	132475998		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132475998T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2784T>C	12.37:g.132475998T>C						EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000389561.2_Silent_p.S892S|EP400_ENST00000330386.6_Silent_p.S892S|EP400_ENST00000332482.4_Silent_p.S855S	p.S928S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	11	2893	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	928					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.2784T>C																																																																																					0.488	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		94	463	0	0	0	1	0	94	463				
GPR108	56927	broad.mit.edu	37	19	6732321	6732321	+	Silent	SNP	G	G	A	rs202152370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6732321G>A	ENST00000264080.7	-	12	1104	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.L118L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	360						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTATCCGACAGGACGTACTTG	0.617																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1078-1080)Ctg>Ttg		G protein-coupled receptor 108							60.0	64.0	62.0					19																	6732321		2098	4212	6310	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6732321G>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1078C>T	19.37:g.6732321G>A						GPR108_ENST00000430424.4_Silent_p.L118L	p.L360L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			12	1104	-			360					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.1078C>T	CCDS42479.1																																																																																				0.617	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			94	393	0	0	0	1	0	94	393				
NCOR1	9611	broad.mit.edu	37	17	15938174	15938174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15938174G>A	ENST00000268712.3	-	45	7297	c.7040C>T	c.(7039-7041)aCg>aTg	p.T2347M	NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M|NCOR1_ENST00000395857.3_Missense_Mutation_p.T931M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2347	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGCCGTTCCGTTCCTAAGTA	0.502																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(7039-7041)aCg>aTg		nuclear receptor corepressor 1							125.0	119.0	121.0					17																	15938174		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15938174G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7040C>T	17.37:g.15938174G>A	ENSP00000268712:p.Thr2347Met					NCOR1_ENST00000395857.3_Missense_Mutation_p.T931M|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M	p.T2347M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	45	7297	-			2347			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.7040C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886070	0.72410	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.48522	0.81;1.39;0.81	5.35	4.36	0.52297	.	0.431594	0.29572	N	0.011776	T	0.63534	0.2519	L	0.54323	1.7	0.31714	N	0.639108	D;B;D;P;P	0.76494	0.961;0.298;0.999;0.914;0.951	P;B;D;P;P	0.73380	0.518;0.09;0.98;0.595;0.727	T	0.71513	-0.4570	10	0.87932	D	0	-0.5725	15.0177	0.71600	0.0:0.1555:0.8444:0.0	.	2250;2347;2244;866;360	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	M	2347;2244;2250;931	ENSP00000268712:T2347M;ENSP00000379192:T2244M;ENSP00000379198:T931M	ENSP00000268712:T2347M	T	-	2	0	NCOR1	15878899	1.000000	0.71417	0.046000	0.18839	0.962000	0.63368	4.224000	0.58593	1.362000	0.46000	0.650000	0.86243	ACG		0.502	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		15	550	0	0	0	1	0	15	550				
KIAA1715	80856	broad.mit.edu	37	2	176812408	176812408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176812408C>T	ENST00000272748.4	-	9	753	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q|KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	169					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGCTGCAGTTCGCTGACGAAT	0.403																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(505-507)cGa>cAa		KIAA1715							114.0	102.0	106.0					2																	176812408		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176812408C>T	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.506G>A	2.37:g.176812408C>T	ENSP00000272748:p.Arg169Gln					KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q|KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q	p.R169Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		9	753	-			169					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.506G>A	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729288	0.89390	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;0.995	D;B;D;P	0.91635	0.999;0.36;0.996;0.629	T	0.79631	-0.1723	9	0.87932	D	0	-8.9298	20.5407	0.99260	0.0:1.0:0.0:0.0	.	171;169;166;169	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	169;171;46;169;94	.	ENSP00000272748:R169Q	R	-	2	0	KIAA1715	176520654	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.769000	0.74985	2.865000	0.98341	0.655000	0.94253	CGA		0.403	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		26	309	0	0	0	1	0	26	309				
PLEKHG2	64857	broad.mit.edu	37	19	39908676	39908676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39908676C>A	ENST00000409794.3	+	9	1864	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.F338L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	338	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTGCTCTTCCTGTTCTCTC	0.632																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1012-1014)ttC>ttA		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							19.0	19.0	19.0					19																	39908676		2203	4297	6500	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908676C>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1014C>A	19.37:g.39908676C>A	ENSP00000386733:p.Phe338Leu					PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.F338L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L	p.F338L			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	1339	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		338			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1014C>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.1|21.1	4.098734|4.098734	0.76870|0.76870	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797|ENST00000205135	D;D;D;D;D|.	0.90844|.	-2.74;-2.74;-2.74;-2.74;-2.74|.	4.65|4.65	0.0907|0.0907	0.14464|0.14464	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48857|0.48857	0.1523|0.1523	L|L	0.37697|0.37697	1.125|1.125	0.41715|0.41715	D|D	0.989477|0.989477	P;D;P;P|.	0.69078|.	0.499;0.997;0.55;0.678|.	P;D;P;P|.	0.70716|.	0.708;0.97;0.613;0.519|.	T|T	0.30621|0.30621	-0.9972|-0.9972	10|5	0.87932|.	D|.	0|.	.|.	8.4114|8.4114	0.32646|0.32646	0.0:0.6421:0.0:0.3579|0.0:0.6421:0.0:0.3579	.|.	338;338;279;338|.	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2|.	.;PKHG2_HUMAN;.;.|.	L|Y	338;338;338;279;338|235	ENSP00000386733:F338L;ENSP00000392906:F338L;ENSP00000367812:F338L;ENSP00000408857:F279L;ENSP00000386492:F338L|.	ENSP00000367812:F338L|.	F|S	+|+	3|2	2|0	PLEKHG2|PLEKHG2	44600516|44600516	0.998000|0.998000	0.40836|0.40836	0.875000|0.875000	0.34327|0.34327	0.859000|0.859000	0.49053|0.49053	1.089000|1.089000	0.30890|0.30890	-0.008000|-0.008000	0.14320|0.14320	-0.265000|-0.265000	0.10407|0.10407	TTC|TCC		0.632	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		12	93	1	0	7.93312e-07	1	8.20014e-07	12	93				
VKORC1	79001	broad.mit.edu	37	16	31104708	31104708	+	Missense_Mutation	SNP	G	G	T	rs202194968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104708G>T	ENST00000394975.2	-	2	435	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M|VKORC1_ENST00000319788.7_Missense_Mutation_p.L70M|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	70					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCTGTCCCAGCACATGCTCC	0.592																																						ENST00000319788.7																			0				lung(3)|urinary_tract(1)	4						c.(208-210)Ctg>Atg		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						139.0	100.0	113.0					16																	31104708		2197	4300	6497	SO:0001583	missense	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31104708G>T		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.208C>A	16.37:g.31104708G>T	ENSP00000378426:p.Leu70Met					VKORC1_ENST00000394975.2_Missense_Mutation_p.L70M|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D|VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D	p.L70M			Q9BQB6	VKOR1_HUMAN			2	418	-			70					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.208C>A	CCDS10703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.84|19.84	3.901624|3.901624	0.72754|0.72754	.|.	.|.	ENSG00000167397|ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000300851;ENST00000394971;ENST00000498155|ENST00000319788;ENST00000394975;ENST00000529564	D|D;D;D	0.97303|0.98649	-4.33|-4.71;-5.05;-3.23	6.17|6.17	0.769|0.769	0.18492|0.18492	.|Vitamin K epoxide reductase (2);	.|0.000000	.|0.50627	.|D	.|0.000102	D|D	0.98707|0.98707	0.9566|0.9566	M|M	0.78456|0.78456	2.415|2.415	0.24446|0.24446	N|N	0.994508|0.994508	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.96014|0.96014	0.9004|0.9004	7|10	0.36615|0.62326	T|D	0.2|0.03	-2.9956|-2.9956	10.007|10.007	0.41964|0.41964	0.4261:0.0:0.5738:0.0|0.4261:0.0:0.5738:0.0	.|.	.|70;70	.|Q9BQB6-2;Q9BQB6	.|.;VKOR1_HUMAN	D|M	90;101;102|70	ENSP00000300851:A90D|ENSP00000326135:L70M;ENSP00000378426:L70M;ENSP00000431371:L70M	ENSP00000300851:A90D|ENSP00000431371:L70M	A|L	-|-	2|1	0|2	VKORC1|RP11-196G11.1;VKORC1	31012209|31012209	0.992000|0.992000	0.36948|0.36948	0.770000|0.770000	0.31555|0.31555	0.903000|0.903000	0.53119|0.53119	0.200000|0.200000	0.17257|0.17257	-0.055000|-0.055000	0.13244|0.13244	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.592	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		68	287	1	0	1.15098e-32	1	1.36004e-32	68	287				
RAB11FIP2	22841	broad.mit.edu	37	10	119799769	119799769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119799769G>A	ENST00000355624.3	-	2	1100	c.661C>T	c.(661-663)Cga>Tga	p.R221*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	221					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACGAGAGTCGCTGAGGACCC	0.443																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(661-663)Cga>Tga		RAB11 family interacting protein 2 (class I)							182.0	184.0	183.0					10																	119799769		2203	4299	6502	SO:0001587	stop_gained	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799769G>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.661C>T	10.37:g.119799769G>A	ENSP00000347839:p.Arg221*					RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*	p.R221*	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1100	-		Colorectal(252;0.235)	221					A6NEI4|Q3I768|Q9Y2F0	Nonsense_Mutation	SNP	ENST00000355624.3	37	c.661C>T	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887967	0.91814	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.5	2.44	0.29823	.	0.237237	0.39210	N	0.001431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-12.2399	15.2537	0.73568	0.0:0.0:0.4982:0.5018	.	.	.	.	X	221	.	ENSP00000347839:R221X	R	-	1	2	RAB11FIP2	119789759	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.844000	0.48246	0.284000	0.22305	0.655000	0.94253	CGA		0.443	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		145	577	0	0	0	1	0	145	577				
PPP6R1	22870	broad.mit.edu	37	19	55748115	55748115	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55748115G>A	ENST00000412770.2	-	17	2450	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	PPP6R1_ENST00000587283.1_Silent_p.D628D|AC010327.1_ENST00000581390.1_RNA	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	628	Glu-rich.|Poly-Glu.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CCTCTTCCTCGTCCTCCTCTT	0.632																																						ENST00000412770.2																			0				breast(1)	1						c.(1882-1884)gaC>gaT		protein phosphatase 6, regulatory subunit 1							76.0	77.0	77.0					19																	55748115		2034	4177	6211	SO:0001819	synonymous_variant	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55748115G>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1884C>T	19.37:g.55748115G>A						PPP6R1_ENST00000587283.1_Silent_p.D628D	p.D628D	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			17	2450	-			628			Glu-rich.|Poly-Glu.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	ENST00000412770.2	37	c.1884C>T	CCDS46186.1																																																																																				0.632	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		10	197	0	0	0	1	0	10	197				
SMOC2	64094	broad.mit.edu	37	6	168949822	168949822	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168949822T>C	ENST00000356284.2	+	7	796	c.576T>C	c.(574-576)cgT>cgC	p.R192R	SMOC2_ENST00000354536.5_Silent_p.R203R	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	192					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTGCATCACGTTACCCTACCC	0.393																																						ENST00000354536.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(607-609)cgT>cgC		SPARC related modular calcium binding 2							183.0	154.0	164.0					6																	168949822		2203	4300	6503	SO:0001819	synonymous_variant	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:168949822T>C	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.576T>C	6.37:g.168949822T>C						SMOC2_ENST00000356284.2_Silent_p.R192R	p.R203R	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	7	829	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	192					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	c.609T>C	CCDS55076.1																																																																																				0.393	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			64	338	0	0	0	1	0	64	338				
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(142-144)aaG>aaT		autophagy related 7							167.0	158.0	161.0					3																	11340313		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11340313G>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.144G>T	3.37:g.11340313G>T	ENSP00000346437:p.Lys48Asn					ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N	p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			2	169	+			48					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.144G>T	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492548	0.44352	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	L	0.52905	1.665	0.52099	D	0.999946	B;B;B	0.33266	0.215;0.404;0.282	B;B;B	0.32677	0.07;0.15;0.072	T	0.10730	-1.0617	10	0.13853	T	0.58	-24.377	14.969	0.71217	0.0693:0.0:0.9307:0.0	.	48;48;48	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	N	48	ENSP00000415223:K48N;ENSP00000390547:K48N;ENSP00000411880:K48N;ENSP00000389996:K48N;ENSP00000412580:K48N;ENSP00000347042:K48N;ENSP00000346437:K48N;ENSP00000408303:K48N;ENSP00000416644:K48N	ENSP00000346437:K48N	K	+	3	2	ATG7	11315313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.722000	0.47269	2.941000	0.99782	0.655000	0.94253	AAG		0.428	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		104	647	1	0	8.27256e-43	1	1.00832e-42	104	647				
PGBD4	161779	broad.mit.edu	37	15	34394945	34394945	+	Silent	SNP	C	C	A	rs374986308		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34394945C>A	ENST00000397766.2	+	1	672	c.213C>A	c.(211-213)cgC>cgA	p.R71R	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	71										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACTCAGGGCGCTCCATGAAAT	0.458																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(211-213)cgC>cgA		piggyBac transposable element derived 4							76.0	70.0	72.0					15																	34394945		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34394945C>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.213C>A	15.37:g.34394945C>A							p.R71R	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	672	+		all_lung(180;1.76e-08)	71					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.213C>A	CCDS10033.1																																																																																				0.458	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			20	272	1	0	2.39187e-15	1	2.61288e-15	20	272				
PREP	5550	broad.mit.edu	37	6	105726037	105726037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105726037G>A	ENST00000369110.3	-	15	2307	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	705					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TCCAGTCGACGTTCAGGCACC	0.552																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(2113-2115)aaC>aaT		prolyl endopeptidase	Oxytocin(DB00107)						188.0	180.0	183.0					6																	105726037		2203	4300	6503	SO:0001819	synonymous_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105726037G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.2115C>T	6.37:g.105726037G>A							p.N705N	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			15	2307	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	705					Q8N6D4	Silent	SNP	ENST00000369110.3	37	c.2115C>T	CCDS5053.1																																																																																				0.552	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			200	857	0	0	0	1	0	200	857				
SLC26A11	284129	broad.mit.edu	37	17	78215619	78215619	+	Splice_Site	SNP	C	C	T	rs367934688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78215619C>T	ENST00000361193.3	+	10	1315	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SLC26A11_ENST00000411502.3_Splice_Site_p.I345I|SLC26A11_ENST00000546047.2_Splice_Site_p.I345I|SLC26A11_ENST00000572725.1_Splice_Site_p.I345I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCTGGCCATCGGTAAGACCC	0.552																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.e10+1		solute carrier family 26 (anion exchanger), member 11		C	,,,	1,4405	2.1+/-5.4	0,1,2202	85.0	89.0	87.0		1035,1035,1035,1035	-7.6	0.3	17		87	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SLC26A11	NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	345/607,345/607,345/607,345/607	78215619	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78215619C>T		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1036+1C>T	17.37:g.78215619C>T						SLC26A11_ENST00000411502.3_Splice_Site_p.I345_splice|SLC26A11_ENST00000546047.2_Splice_Site_p.I345_splice|SLC26A11_ENST00000572725.1_Splice_Site_p.I345_splice	p.I345_splice	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		10	1315	+	all_neural(118;0.0538)		345						Splice_Site	SNP	ENST00000361193.3	37	c.1036_splice	CCDS11771.2																																																																																				0.552	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1		Silent	112	479	0	0	0	1	0	112	479				
SASH1	23328	broad.mit.edu	37	6	148852764	148852764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852764C>A	ENST00000367467.3	+	13	2006	c.1531C>A	c.(1531-1533)Ctt>Att	p.L511I		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	511					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGTAGAAAGTCTTCGCAGTTC	0.512																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1531-1533)Ctt>Att		SAM and SH3 domain containing 1							81.0	73.0	76.0					6																	148852764		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148852764C>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1531C>A	6.37:g.148852764C>A	ENSP00000356437:p.Leu511Ile						p.L511I	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	13	2006	+		Ovarian(120;0.0169)	511					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1531C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217478	0.95104	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53206	0.63	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.71206	2.165	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65541	-0.6143	10	0.54805	T	0.06	-14.2685	19.0299	0.92952	0.0:1.0:0.0:0.0	.	492;511	Q6P4R9;O94885	.;SASH1_HUMAN	I	511;272	ENSP00000356437:L511I	ENSP00000356437:L511I	L	+	1	0	SASH1	148894457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.503000	0.84419	0.655000	0.94253	CTT		0.512	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		16	215	1	0	1.99824e-07	1	2.07512e-07	16	215				
MRPS23	51649	broad.mit.edu	37	17	55917297	55917297	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55917297C>A	ENST00000313608.8	-	5	466		c.e5-1			NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23						translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTCCGTGTTGCTTAAAAGACC	0.403																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.e5-1		mitochondrial ribosomal protein S23							105.0	90.0	95.0					17																	55917297		2203	4300	6503	SO:0001630	splice_region_variant	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55917297C>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.421-1G>T	17.37:g.55917297C>A								NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			5	466	-	Breast(9;8.75e-08)							B2R6V3|Q96Q24|Q9BWH8|Q9P053	Splice_Site	SNP	ENST00000313608.8	37		CCDS11598.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528459	0.44969	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.708	0.77602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS23	53272296	0.930000	0.31532	0.453000	0.27007	0.010000	0.07245	0.503000	0.22610	2.781000	0.95711	0.655000	0.94253	.		0.403	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070	Intron	56	284	1	0	1.00798e-23	1	1.14783e-23	56	284				
AGL	178	broad.mit.edu	37	1	100356893	100356893	+	Missense_Mutation	SNP	G	G	A	rs147977213	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100356893G>A	ENST00000294724.4	+	22	3408	c.2930G>A	c.(2929-2931)cGa>cAa	p.R977Q	AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000370163.3_Missense_Mutation_p.R977Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	977					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTATTTCACGATCAGGAACT	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		18919	0.002		0.0	False		,,,				2504	0.0					ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2929-2931)cGa>cAa		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							105.0	108.0	107.0					1																	100356893		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100356893G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2930G>A	1.37:g.100356893G>A	ENSP00000294724:p.Arg977Gln					AGL_ENST00000370163.3_Missense_Mutation_p.R977Q|AGL_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q	p.R977Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	22	3408	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	977					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2930G>A	CCDS759.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.44	3.624360	0.66901	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.38838	1.175	0.80722	D	1	P;P;P	0.42649	0.786;0.786;0.681	B;B;B	0.39660	0.306;0.306;0.161	T	0.57505	-0.7800	10	0.13853	T	0.58	.	19.852	0.96744	0.0:0.0:1.0:0.0	.	960;961;977	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	977;977;977;977;961;961;960	ENSP00000355106:R977Q;ENSP00000359184:R977Q;ENSP00000359182:R977Q;ENSP00000294724:R977Q;ENSP00000354971:R961Q;ENSP00000359180:R961Q;ENSP00000354635:R960Q	ENSP00000294724:R977Q	R	+	2	0	AGL	100129481	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	3.025000	0.49681	2.703000	0.92315	0.579000	0.79373	CGA		0.323	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		78	302	0	0	0	1	0	78	302				
PDCD6IP	10015	broad.mit.edu	37	3	33885712	33885712	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33885712G>T	ENST00000307296.3	+	11	1845	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	490	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GCCTTTAAGAGCAGGTAAAAA	0.338																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(1468-1470)Gca>Tca		programmed cell death 6 interacting protein							58.0	58.0	58.0					3																	33885712		2203	4299	6502	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33885712G>T	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1468G>T	3.37:g.33885712G>T	ENSP00000307387:p.Ala490Ser					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S	p.A490S			Q8WUM4	PDC6I_HUMAN			11	1845	+			490			Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.1468G>T	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550891	0.27739	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.28069	1.63;1.63	5.27	4.4	0.53042	.	0.369300	0.31949	N	0.006801	T	0.15305	0.0369	N	0.20766	0.605	0.48632	D	0.999686	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.14578	0.009;0.011;0.005	T	0.07654	-1.0761	10	0.07644	T	0.81	-6.8926	6.2042	0.20593	0.1533:0.0:0.6964:0.1503	.	271;495;490	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	S	490;495	ENSP00000307387:A490S;ENSP00000411825:A495S	ENSP00000307387:A490S	A	+	1	0	PDCD6IP	33860716	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.287000	0.43505	1.238000	0.43771	-0.259000	0.10710	GCA		0.338	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			53	221	1	0	5.73376e-24	1	6.5387e-24	53	221				
MAPK8IP3	23162	broad.mit.edu	37	16	1817158	1817158	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1817158T>C	ENST00000250894.4	+	26	3251	c.3094T>C	c.(3094-3096)Tgg>Cgg	p.W1032R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1032					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGATGGCCAGTGGGATCTGAG	0.622																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3094-3096)Tgg>Cgg		mitogen-activated protein kinase 8 interacting protein 3							89.0	102.0	98.0					16																	1817158		2122	4236	6358	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817158T>C	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3094T>C	16.37:g.1817158T>C	ENSP00000250894:p.Trp1032Arg					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	p.W1032R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			26	3251	+			1032					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3094T>C	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231571	0.79688	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.63744	-0.06;-0.06	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.91635	0.983;0.999;0.998	D	0.84928	0.0858	10	0.87932	D	0	-12.7884	12.9591	0.58447	0.0:0.0:0.0:1.0	.	1033;1026;1032	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	R	1032;1026	ENSP00000250894:W1032R;ENSP00000348290:W1026R	ENSP00000250894:W1032R	W	+	1	0	MAPK8IP3	1757159	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.811000	0.86092	1.610000	0.50200	0.482000	0.46254	TGG		0.622	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		151	623	0	0	0	1	0	151	623				
CAMK4	814	broad.mit.edu	37	5	110818547	110818547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110818547C>T	ENST00000282356.4	+	10	1291	c.893C>T	c.(892-894)cCg>cTg	p.P298L	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTCCAGCATCCGTGGGTCACA	0.408																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(892-894)cCg>cTg		calcium/calmodulin-dependent protein kinase IV							94.0	93.0	93.0					5																	110818547		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110818547C>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.893C>T	5.37:g.110818547C>T	ENSP00000282356:p.Pro298Leu					CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L	p.P298L	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	10	1291	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	298			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.893C>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977222	0.92982	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.56941	0.43;0.43	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86752	0.1961	10	0.87932	D	0	.	19.0311	0.92957	0.0:1.0:0.0:0.0	.	298	Q16566	KCC4_HUMAN	L	298	ENSP00000422634:P298L;ENSP00000282356:P298L	ENSP00000282356:P298L	P	+	2	0	CAMK4	110846446	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	7.388000	0.79795	2.482000	0.83794	0.563000	0.77884	CCG		0.408	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		89	390	0	0	0	1	0	89	390				
NCOR2	9612	broad.mit.edu	37	12	124827723	124827723	+	Silent	SNP	C	C	T	rs571877591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124827723C>T	ENST00000405201.1	-	33	4764	c.4764G>A	c.(4762-4764)acG>acA	p.T1588T	NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000356219.3_Silent_p.T1595T|NCOR2_ENST00000404121.2_Silent_p.T1149T|NCOR2_ENST00000397355.1_Silent_p.T1579T|NCOR2_ENST00000404621.1_Silent_p.T1578T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1596					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCACGAGGCGTCGACGTCA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17561	0.0		0.0	False		,,,				2504	0.0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4783-4785)acG>acA		nuclear receptor corepressor 2							46.0	56.0	53.0					12																	124827723		2175	4254	6429	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124827723C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4764G>A	12.37:g.124827723C>T						NCOR2_ENST00000397355.1_Silent_p.T1579T|NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000405201.1_Silent_p.T1588T|NCOR2_ENST00000404621.1_Silent_p.T1578T|NCOR2_ENST00000404121.2_Silent_p.T1149T	p.T1595T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	34	4940	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1596					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.4785G>A	CCDS41858.2																																																																																				0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		16	224	0	0	0	1	0	16	224				
MYCBP2	23077	broad.mit.edu	37	13	77736067	77736067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77736067C>A	ENST00000544440.2	-	44	6474	c.6457G>T	c.(6457-6459)Gaa>Taa	p.E2153*	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.E2191*					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)		TCAAGAATTTCAAGGTCTTCT	0.294																																						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.(6571-6573)Gaa>Taa		MYC binding protein 2, E3 ubiquitin protein ligase							82.0	87.0	85.0					13																	77736067		2203	4298	6501	SO:0001587	stop_gained	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77736067C>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.6457G>T	13.37:g.77736067C>A	ENSP00000444596:p.Glu2153*					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.E2153*	p.E2191*	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	44	6837	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2153						Nonsense_Mutation	SNP	ENST00000544440.2	37	c.6571G>T		.	.	.	.	.	.	.	.	.	.	C	47	13.314540	0.99734	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.72	5.72	0.89469	.	0.055132	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.8938	0.96942	0.0:1.0:0.0:0.0	.	.	.	.	X	2153;2191;2153	.	ENSP00000349892:E2153X	E	-	1	0	MYCBP2	76634068	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.316000	0.72857	2.703000	0.92315	0.460000	0.39030	GAA		0.294	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		62	308	1	0	3.39796e-24	1	3.87938e-24	62	308				
YME1L1	10730	broad.mit.edu	37	10	27436510	27436510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27436510C>T	ENST00000326799.3	-	3	404	c.256G>A	c.(256-258)Gag>Aag	p.E86K	YME1L1_ENST00000477432.1_Missense_Mutation_p.E86K|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	86					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						tttgctggctccatgaacatg	0.453																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(256-258)Gag>Aag		YME1-like 1 ATPase							206.0	156.0	173.0					10																	27436510		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27436510C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.256G>A	10.37:g.27436510C>T	ENSP00000318480:p.Glu86Lys					YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.E86K	p.E86K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			3	404	-			86					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.256G>A	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	0.335	-0.953921	0.02285	.	.	ENSG00000136758	ENST00000326799;ENST00000375969	D	0.92348	-3.02	2.06	0.00919	0.14078	Peptidase M41, FtsH (1);	1.972690	0.03706	U	0.249369	T	0.82195	0.4984	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.0	B;B	0.15484	0.013;0.0	T	0.70970	-0.4727	10	0.59425	D	0.04	.	3.2512	0.06815	0.0:0.5467:0.2784:0.1749	.	86;86	Q6PJ89;Q96TA2	.;YMEL1_HUMAN	K	86	ENSP00000318480:E86K	ENSP00000318480:E86K	E	-	1	0	YME1L1	27476516	0.001000	0.12720	0.002000	0.10522	0.036000	0.12997	-0.120000	0.10660	0.002000	0.14630	0.467000	0.42956	GAG		0.453	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		9	44	0	0	0	1	0	9	44				
SLC34A2	10568	broad.mit.edu	37	4	25671453	25671453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25671453C>T	ENST00000382051.3	+	7	870	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	274					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTCACAAAGCTCATTGTCCA	0.463			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(820-822)Ctc>Ttc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							136.0	135.0	135.0					4																	25671453		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25671453C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.820C>T	4.37:g.25671453C>T	ENSP00000371483:p.Leu274Phe					SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F	p.L274F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			7	870	+		Breast(46;0.0503)	274					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.820C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592077	0.66219	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.26660	1.73;1.72;1.73	5.39	4.53	0.55603	.	0.470827	0.24917	N	0.034573	T	0.48768	0.1518	M	0.85710	2.77	0.39028	D	0.95987	P;B	0.51791	0.948;0.086	P;B	0.56823	0.807;0.036	T	0.55724	-0.8096	10	0.30854	T	0.27	-30.4741	14.7178	0.69284	0.0:0.7251:0.2749:0.0	.	273;274	O95436-2;O95436	.;NPT2B_HUMAN	F	273;274;273	ENSP00000425501:L273F;ENSP00000371483:L274F;ENSP00000423021:L273F	ENSP00000371483:L274F	L	+	1	0	SLC34A2	25280551	1.000000	0.71417	0.956000	0.39512	0.953000	0.61014	1.867000	0.39499	1.372000	0.46190	0.561000	0.74099	CTC		0.463	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		122	568	0	0	0	1	0	122	568				
NNT	23530	broad.mit.edu	37	5	43609350	43609350	+	Missense_Mutation	SNP	G	G	A	rs12653648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43609350G>A	ENST00000264663.5	+	2	274	c.53G>A	c.(52-54)aGc>aAc	p.S18N	NNT_ENST00000344920.4_Missense_Mutation_p.S18N|NNT_ENST00000512996.2_Intron	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	18					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CCTCTACTTAGCAATTTGGGG	0.438																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(52-54)aGc>aAc		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						133.0	137.0	135.0					5																	43609350		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43609350G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.53G>A	5.37:g.43609350G>A	ENSP00000264663:p.Ser18Asn					NNT_ENST00000344920.4_Missense_Mutation_p.S18N|NNT_ENST00000512996.2_Intron	p.S18N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			2	274	+	Lung NSC(6;2.58e-06)		18					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.53G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018041	0.35606	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	D;D;D;D	0.95788	-1.82;-1.83;-3.81;-3.81	5.72	2.2	0.27929	.	0.357997	0.37261	N	0.002169	D	0.88507	0.6455	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79857	-0.1626	10	0.33940	T	0.23	-6.4642	5.563	0.17154	0.1469:0.106:0.6264:0.1207	rs12653648	18	Q13423	NNTM_HUMAN	N	18	ENSP00000427670:S18N;ENSP00000421886:S18N;ENSP00000264663:S18N;ENSP00000343873:S18N	ENSP00000264663:S18N	S	+	2	0	NNT	43645107	0.997000	0.39634	0.916000	0.36221	0.503000	0.33858	0.857000	0.27831	0.593000	0.29745	0.563000	0.77884	AGC		0.438	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		36	248	0	0	0	1	0	36	248				
TMEM67	91147	broad.mit.edu	37	8	94800075	94800075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94800075C>T	ENST00000453321.3	+	14	1474	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	TMEM67_ENST00000409623.3_Silent_p.V391V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	472					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TAAATAGTGTCCACCTTGTAC	0.343																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(1414-1416)gtC>gtT		transmembrane protein 67							154.0	145.0	148.0					8																	94800075		2203	4300	6503	SO:0001819	synonymous_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94800075C>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1416C>T	8.37:g.94800075C>T						TMEM67_ENST00000409623.3_Silent_p.V391V	p.V472V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		14	1474	+	Breast(36;4.14e-07)		472					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	c.1416C>T	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	0.834	-0.744151	0.03088	.	.	ENSG00000164953	ENST00000520680	.	.	.	5.59	3.39	0.38822	.	.	.	.	.	T	0.54902	0.1887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51036	-0.8756	4	.	.	.	-9.2279	6.1893	0.20516	0.1666:0.6377:0.0:0.1957	.	.	.	.	S	80	.	.	P	+	1	0	TMEM67	94869251	0.767000	0.28508	0.964000	0.40570	0.236000	0.25371	1.234000	0.32660	1.305000	0.44909	0.557000	0.71058	CCA		0.343	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		75	423	0	0	0	1	0	75	423				
HDAC7	51564	broad.mit.edu	37	12	48188688	48188688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188688C>T	ENST00000427332.2	-	12	1352	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R438Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q|HDAC7_ENST00000488927.1_5'Flank			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	399	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTGCCGCAGCCGGGGCTTCTC	0.687																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1312-1314)cGg>cAg		histone deacetylase 7							49.0	58.0	55.0					12																	48188688		2202	4299	6501	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48188688C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1196G>A	12.37:g.48188688C>T	ENSP00000404394:p.Arg399Gln					HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000427332.2_Missense_Mutation_p.R399Q	p.R438Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	12	1312	-			399			Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1313G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397265	0.83120	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.58506	0.42;0.33;0.43;0.4;0.44	4.5	3.57	0.40892	.	0.664644	0.13526	N	0.381323	T	0.71056	0.3295	L	0.55481	1.735	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.70156	-0.4949	10	0.62326	D	0.03	.	12.8923	0.58078	0.1646:0.8354:0.0:0.0	.	438;421;401	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	Q	438;401;421;455;399	ENSP00000080059:R438Q;ENSP00000351326:R401Q;ENSP00000448532:R421Q;ENSP00000369984:R455Q;ENSP00000404394:R399Q	ENSP00000080059:R438Q	R	-	2	0	HDAC7	46474955	0.996000	0.38824	0.995000	0.50966	0.970000	0.65996	3.544000	0.53640	1.122000	0.41944	0.563000	0.77884	CGG		0.687	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			17	745	0	0	0	1	0	17	745				
CDH23	64072	broad.mit.edu	37	10	73500672	73500672	+	Missense_Mutation	SNP	G	G	A	rs201533282	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73500672G>A	ENST00000224721.6	+	36	4602	c.4597G>A	c.(4597-4599)Gag>Aag	p.E1533K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1528	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGTCATCGAGAGCCCCTT	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		18011	0.0		0.002	False		,,,				2504	0.0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(4597-4599)Gag>Aag		cadherin-related 23		G	LYS/GLU	0,4074		0,0,2037	83.0	88.0	86.0		4582	4.9	1.0	10	dbSNP_134	86	2,8376		0,2,4187	yes	missense	CDH23	NM_022124.5	56	0,2,6224	AA,AG,GG		0.0239,0.0,0.0161	possibly-damaging	1528/3355	73500672	2,12450	2037	4189	6226	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73500672G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4597G>A	10.37:g.73500672G>A	ENSP00000224721:p.Glu1533Lys						p.E1533K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			36	4602	+			1528			Cadherin 15.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.4597G>A		.	.	.	.	.	.	.	.	.	.	G	18.86	3.713318	0.68730	0.0	2.39E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.9	4.9	0.64082	Cadherin (1);Cadherin-like (1);	0.227974	0.36066	N	0.002816	T	0.45617	0.1351	L	0.48218	1.51	0.80722	D	1	B;P	0.39601	0.222;0.68	B;B	0.28139	0.053;0.086	T	0.47262	-0.9131	9	0.11182	T	0.66	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	348;1528	E7ERT0;Q9H251	.;CAD23_HUMAN	K	1533;1528;1531;348	.	ENSP00000224721:E1533K	E	+	1	0	CDH23	73170678	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.317000	0.65822	2.425000	0.82216	0.591000	0.81541	GAG		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		95	387	0	0	0	1	0	95	387				
C1orf116	79098	broad.mit.edu	37	1	207198256	207198256	+	Missense_Mutation	SNP	G	G	A	rs706846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207198256G>A	ENST00000359470.5	-	3	508	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	87			P -> S (in dbSNP:rs706846).			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGGTTATGGGCAGTGCTCGG	0.592																																						ENST00000359470.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(259-261)Ccc>Tcc		chromosome 1 open reading frame 116							93.0	99.0	97.0					1																	207198256		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207198256G>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.259C>T	1.37:g.207198256G>A	ENSP00000352447:p.Pro87Ser					C1orf116_ENST00000461135.2_5'UTR	p.P87S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			3	508	-	Prostate(682;0.19)		87		P -> S (in dbSNP:rs706846).			C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.259C>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798076	0.50208	.	.	ENSG00000182795	ENST00000359470	T	0.19532	2.14	4.39	3.44	0.39384	.	0.353687	0.27495	N	0.019120	T	0.31451	0.0797	M	0.63843	1.955	0.38128	D	0.938075	D	0.53462	0.96	P	0.52217	0.693	T	0.17018	-1.0383	10	0.32370	T	0.25	-11.1548	12.6221	0.56610	0.0:0.0:0.8266:0.1734	rs706846;rs1770381;rs706846	87	Q9BW04	SARG_HUMAN	S	87	ENSP00000352447:P87S	ENSP00000352447:P87S	P	-	1	0	C1orf116	205264879	0.809000	0.29036	0.008000	0.14137	0.038000	0.13279	2.613000	0.46351	1.084000	0.41184	0.655000	0.94253	CCC		0.592	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		103	328	0	0	0	1	0	103	328				
NT5DC3	51559	broad.mit.edu	37	12	104179235	104179235	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104179235C>A	ENST00000392876.3	-	12	1247	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	403						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTCCTCCAGCCATGCTTTAGG	0.443																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(1207-1209)Ggc>Tgc		5'-nucleotidase domain containing 3							164.0	136.0	146.0					12																	104179235		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104179235C>A	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1207G>T	12.37:g.104179235C>A	ENSP00000376615:p.Gly403Cys						p.G403C	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			12	1247	-			403					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.1207G>T	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831137	0.91036	.	.	ENSG00000111696	ENST00000392876	T	0.28666	1.6	5.46	5.46	0.80206	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78588	-0.2146	9	.	.	.	-28.532	19.3059	0.94163	0.0:1.0:0.0:0.0	.	403	Q86UY8	NT5D3_HUMAN	C	403	ENSP00000376615:G403C	.	G	-	1	0	NT5DC3	102703365	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.772000	0.85439	2.559000	0.86315	0.655000	0.94253	GGC		0.443	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		82	372	1	0	2.14232e-31	1	2.52235e-31	82	372				
CFAP97	57587	broad.mit.edu	37	4	186084022	186084022	+	Missense_Mutation	SNP	G	G	A	rs192418727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186084022G>A	ENST00000458385.2	-	5	1648	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		510										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGGTCAACCGCTGATCGCTC	0.438													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18464	0.0		0.0	False		,,,				2504	0.0					ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(1528-1530)gCg>gTg		KIAA1430							49.0	54.0	52.0					4																	186084022		1931	4138	6069	SO:0001583	missense	57587							g.chr4:186084022G>A																												ENST00000458385.2:c.1529C>T	4.37:g.186084022G>A	ENSP00000409964:p.Ala510Val						p.A510V	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	5	1648	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	510					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.1529C>T	CCDS47168.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.214	0.224956	0.09916	.	.	ENSG00000164323	ENST00000458385	T	0.28666	1.6	4.7	-5.24	0.02789	.	.	.	.	.	T	0.10208	0.0250	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	9	0.15066	T	0.55	0.3863	5.5487	0.17079	0.398:0.2639:0.3381:0.0	.	510	Q9P2B7	K1430_HUMAN	V	510	ENSP00000409964:A510V	ENSP00000409964:A510V	A	-	2	0	KIAA1430	186321016	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.268000	0.08607	-1.005000	0.03417	-0.355000	0.07637	GCG		0.438	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			12	84	0	0	0	1	0	12	84				
TNR	7143	broad.mit.edu	37	1	175304878	175304878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175304878G>A	ENST00000367674.2	-	20	4308	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Silent_p.G1200G			Q92752	TENR_HUMAN	tenascin R	1200	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTTCCCGAAGCCAACACGGT	0.433																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3598-3600)ggC>ggT		tenascin R							167.0	168.0	168.0					1																	175304878		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175304878G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3600C>T	1.37:g.175304878G>A						TNR_ENST00000263525.2_Silent_p.G1200G	p.G1200G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			20	4308	-	Renal(580;0.146)		1200			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.3600C>T	CCDS1318.1																																																																																				0.433	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		109	576	0	0	0	1	0	109	576				
CELSR1	9620	broad.mit.edu	37	22	46859644	46859644	+	Silent	SNP	G	G	A	rs150510873		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46859644G>A	ENST00000262738.3	-	2	4142	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R	CELSR1_ENST00000395964.1_Silent_p.R1381R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1381	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCCGCCCTCGCGGCTGCGGC	0.687																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4141-4143)cgC>cgT		cadherin, EGF LAG seven-pass G-type receptor 1							13.0	11.0	12.0					22																	46859644		2095	4132	6227	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859644G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4143C>T	22.37:g.46859644G>A						CELSR1_ENST00000395964.1_Silent_p.R1381R	p.R1381R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	4142	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1381			EGF-like 2; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4143C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	4.939	0.174509	0.09391	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.22	-7.57	0.01318	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41016	-0.9532	4	.	.	.	.	0.9322	0.01338	0.373:0.1609:0.2912:0.1749	.	.	.	.	V	756	.	.	A	-	2	0	CELSR1	45238308	0.209000	0.23505	0.890000	0.34922	0.479000	0.33129	-0.551000	0.06027	-1.286000	0.02384	-2.815000	0.00110	GCG		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		20	87	0	0	0	1	0	20	87				
CUZD1	50624	broad.mit.edu	37	10	124591924	124591924	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124591924G>T	ENST00000368904.1	-	11	2643	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H|CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACTGTTGAAAGGCTGGTTTGG	0.388																																						ENST00000368904.1																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39						c.(1693-1695)cCt>cAt		CUB and zona pellucida-like domains 1							188.0	157.0	168.0					10																	124591924		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124591924G>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1694C>A	10.37:g.124591924G>T	ENSP00000357900:p.Pro565His					CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H|CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H	p.P565H			Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	11	2643	-		all_neural(114;0.169)|Glioma(114;0.222)	565						Missense_Mutation	SNP	ENST00000368904.1	37	c.1694C>A	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892986	0.33442	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	T;T;T	0.40225	1.04;1.04;1.04	5.2	5.2	0.72013	.	0.184780	0.36268	N	0.002682	T	0.55909	0.1950	M	0.64997	1.995	0.09310	N	0.99999	D	0.71674	0.998	P	0.61328	0.887	T	0.50980	-0.8763	10	0.45353	T	0.12	-19.8253	11.8476	0.52393	0.0:0.0:0.7809:0.2191	.	565	Q86UP6	CUZD1_HUMAN	H	565;284;284;199;284;565;565	ENSP00000357900:P565H;ENSP00000441590:P565H;ENSP00000376540:P565H	ENSP00000340905:P199H	P	-	2	0	CUZD1	124581914	0.521000	0.26258	0.078000	0.20375	0.148000	0.21650	2.828000	0.48120	2.564000	0.86499	0.655000	0.94253	CCT		0.388	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		122	464	1	0	6.14176e-70	1	7.79703e-70	122	464				
ITPR3	3710	broad.mit.edu	37	6	33652166	33652166	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33652166C>T	ENST00000374316.5	+	38	6030	c.4970C>T	c.(4969-4971)tCg>tTg	p.S1657L	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1657					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTCATGGAGTCGGAGGAGAAG	0.637																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(4969-4971)tCg>tTg		inositol 1,4,5-trisphosphate receptor, type 3							51.0	54.0	53.0					6																	33652166		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33652166C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4970C>T	6.37:g.33652166C>T	ENSP00000363435:p.Ser1657Leu					ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L	p.S1657L			Q14573	ITPR3_HUMAN			38	6030	+			1657					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.4970C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392363	0.62066	.	.	ENSG00000096433	ENST00000374316	D	0.91894	-2.93	5.31	5.31	0.75309	.	0.273852	0.37437	N	0.002098	T	0.82245	0.4995	L	0.36672	1.1	0.39997	D	0.975114	B	0.31949	0.348	B	0.24541	0.054	D	0.84365	0.0540	10	0.56958	D	0.05	-11.7663	13.8974	0.63781	0.1523:0.8477:0.0:0.0	.	1657	Q14573	ITPR3_HUMAN	L	1657	ENSP00000363435:S1657L	ENSP00000363435:S1657L	S	+	2	0	ITPR3	33760144	0.961000	0.32948	0.967000	0.41034	0.985000	0.73830	3.599000	0.54045	2.475000	0.83589	0.650000	0.86243	TCG		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		37	165	0	0	0	1	0	37	165				
ENOX1	55068	broad.mit.edu	37	13	43986136	43986136	+	Missense_Mutation	SNP	C	C	T	rs146373261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986136C>T	ENST00000261488.6	-	5	701	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	42					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGATCTGTCACGGACATGTTG	0.537																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(124-126)Gtg>Atg		ecto-NOX disulfide-thiol exchanger 1		C	MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	140.0	119.0	126.0		124,124,124	4.8	1.0	13	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ENOX1	NM_001127615.1,NM_001242863.1,NM_017993.3	21,21,21	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign,benign	42/644,42/644,42/644	43986136	3,13003	2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43986136C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.124G>A	13.37:g.43986136C>T	ENSP00000261488:p.Val42Met					ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	5	701	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	42					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.124G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251216	0.22880	4.54E-4	1.16E-4	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.48522	0.81;0.81	5.62	4.77	0.60923	.	0.065961	0.64402	D	0.000012	T	0.33614	0.0869	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.08554	-1.0716	10	0.23302	T	0.38	0.011	14.0448	0.64698	0.0:0.9273:0.0:0.0727	.	42	Q8TC92	ENOX1_HUMAN	M	42	ENSP00000261488:V42M;ENSP00000415054:V42M	ENSP00000261488:V42M	V	-	1	0	ENOX1	42884136	0.990000	0.36364	0.994000	0.49952	0.994000	0.84299	2.711000	0.47177	1.511000	0.48818	0.467000	0.42956	GTG		0.537	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		61	237	0	0	0	1	0	61	237				
HNF1A	6927	broad.mit.edu	37	12	121437184	121437184	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121437184A>G	ENST00000257555.6	+	8	1841	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A	HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A			P20823	HNF1A_HUMAN	HNF1 homeobox A	539					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCACGCCCACCAAGCAGGT	0.682									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1615-1617)Acc>Gcc		HNF1 homeobox A							80.0	82.0	81.0					12																	121437184		2203	4299	6502	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121437184A>G	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1615A>G	12.37:g.121437184A>G	ENSP00000257555:p.Thr539Ala					HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A|HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A	p.T539A			P20823	HNF1A_HUMAN			8	1841	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		539					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1615A>G	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079208	0.55753	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.97089	-4.24;-4.24;-4.24	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.099892	0.43110	D	0.000606	D	0.94328	0.8177	L	0.36672	1.1	0.80722	D	1	B;B	0.26002	0.114;0.139	B;B	0.24541	0.042;0.054	D	0.92434	0.5956	10	0.48119	T	0.1	-34.5381	14.8565	0.70341	1.0:0.0:0.0:0.0	.	539;539	F5H0K0;P20823	.;HNF1A_HUMAN	A	539;431;539;360;539;539	ENSP00000257555:T539A;ENSP00000443112:T539A;ENSP00000438804:T539A	ENSP00000257555:T539A	T	+	1	0	HNF1A	119921567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.625000	0.61262	2.104000	0.64026	0.528000	0.53228	ACC		0.682	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		115	649	0	0	0	1	0	115	649				
TRIM24	8805	broad.mit.edu	37	7	138239586	138239586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239586C>T	ENST00000343526.4	+	9	1620	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	469					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGCTCAATTACGGCTCCAGCA	0.502																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1405-1407)Cgg>Tgg		tripartite motif containing 24							113.0	113.0	113.0					7																	138239586		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138239586C>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1405C>T	7.37:g.138239586C>T	ENSP00000340507:p.Arg469Trp					TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W|TRIM24_ENST00000497516.1_3'UTR	p.R469W			O15164	TIF1A_HUMAN			9	1620	+			469					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1405C>T	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544278	0.86022	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.78481	-1.18;-1.17	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	M	0.68593	2.085	0.58432	D	0.999996	P;D	0.89917	0.938;1.0	B;D	0.91635	0.384;0.999	D	0.87165	0.2217	10	0.52906	T	0.07	-13.5221	19.328	0.94270	0.0:1.0:0.0:0.0	.	469;469	O15164;O15164-2	TIF1A_HUMAN;.	W	469;380;469;427	ENSP00000340507:R469W;ENSP00000390829:R469W	ENSP00000340507:R469W	R	+	1	2	TRIM24	137890126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.311000	0.65786	2.661000	0.90470	0.557000	0.71058	CGG		0.502	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		17	579	0	0	0	1	0	17	579				
POLG	5428	broad.mit.edu	37	15	89872175	89872175	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872175G>A	ENST00000268124.5	-	4	1355	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	POLG_ENST00000442287.2_Splice_Site_p.A341V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	341					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGCTCTCACCGCTGGGCCTCT	0.632								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.e4+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							77.0	68.0	71.0					15																	89872175		2200	4299	6499	SO:0001630	splice_region_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89872175G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1023+1C>T	15.37:g.89872175G>A						POLG_ENST00000442287.2_Splice_Site_p.A341_splice	p.A341_splice	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		4	1355	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		341					Q8NFM2|Q92515	Splice_Site	SNP	ENST00000268124.5	37	c.1023_splice	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724842	0.48833	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.92595	-3.07;-3.07	6.06	-7.57	0.01318	Ribonuclease H-like (1);	1.214350	0.05347	N	0.531184	D	0.86648	0.5983	M	0.65975	2.015	0.24342	N	0.99495	B	0.02656	0.0	B	0.01281	0.0	T	0.69339	-0.5171	10	0.27785	T	0.31	0.3442	2.8765	0.05632	0.4242:0.0849:0.3187:0.1722	.	341	P54098	DPOG1_HUMAN	V	341	ENSP00000268124:A341V;ENSP00000399851:A341V	ENSP00000268124:A341V	A	-	2	0	POLG	87673179	0.000000	0.05858	0.028000	0.17463	0.389000	0.30415	-0.861000	0.04268	-1.448000	0.01941	-0.812000	0.03155	GCG		0.632	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	Missense_Mutation	55	204	0	0	0	1	0	55	204				
DVL1	1855	broad.mit.edu	37	1	1275450	1275450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275450C>T	ENST00000378888.5	-	8	1161	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	DVL1_ENST00000378891.5_Missense_Mutation_p.G293S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	293	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGATGCGGCCGTCAGCGGCC	0.647																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(877-879)Ggc>Agc		dishevelled segment polarity protein 1							39.0	44.0	42.0					1																	1275450		2201	4298	6499	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275450C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.877G>A	1.37:g.1275450C>T	ENSP00000368166:p.Gly293Ser					DVL1_ENST00000378891.5_Missense_Mutation_p.G293S	p.G293S			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	1161	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	293			PDZ.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.877G>A		.	.	.	.	.	.	.	.	.	.	C	18.53	3.643377	0.67244	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.60548	0.18;0.18	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.117824	0.56097	D	0.000023	T	0.81143	0.4761	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.921;0.991	D	0.87372	0.2351	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	293;293	O14640;O14640-2	DVL1_HUMAN;.	S	293	ENSP00000368169:G293S;ENSP00000368166:G293S	ENSP00000368166:G293S	G	-	1	0	DVL1	1265313	1.000000	0.71417	0.892000	0.35008	0.156000	0.22039	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	GGC		0.647	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		35	328	0	0	0	1	0	35	328				
DUOXA2	405753	broad.mit.edu	37	15	45408806	45408806	+	Missense_Mutation	SNP	G	G	A	rs371428294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45408806G>A	ENST00000323030.5	+	4	718	c.433G>A	c.(433-435)Gca>Aca	p.A145T	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	145					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GTACGCGAACGCACTGGAGAA	0.607																																						ENST00000323030.5																			0											c.(433-435)Gca>Aca		dual oxidase maturation factor 2							56.0	63.0	61.0					15																	45408806		2087	4233	6320	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45408806G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.433G>A	15.37:g.45408806G>A	ENSP00000319705:p.Ala145Thr						p.A145T	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	4	718	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	145					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.433G>A	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031029	0.75504	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.62232	0.04	5.58	5.58	0.84498	.	0.106984	0.64402	D	0.000006	T	0.81403	0.4815	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.83964	0.0323	10	0.72032	D	0.01	-18.6423	18.5627	0.91107	0.0:0.0:1.0:0.0	.	145	Q1HG44	DOXA2_HUMAN	T	145;100	ENSP00000319705:A145T	ENSP00000319705:A145T	A	+	1	0	DUOXA2	43196098	1.000000	0.71417	0.122000	0.21767	0.005000	0.04900	5.750000	0.68712	2.633000	0.89246	0.655000	0.94253	GCA		0.607	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		60	255	0	0	0	1	0	60	255				
ZNF750	79755	broad.mit.edu	37	17	80790046	80790046	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80790046G>T	ENST00000269394.3	-	2	1118	c.285C>A	c.(283-285)ctC>ctA	p.L95L	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	95					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGAAGGCAGAGAGTCCATTTG	0.567																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(283-285)ctC>ctA		zinc finger protein 750							111.0	95.0	100.0					17																	80790046		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80790046G>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.285C>A	17.37:g.80790046G>T						TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron	p.L95L	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1118	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	95					Q9H899	Silent	SNP	ENST00000269394.3	37	c.285C>A	CCDS11819.1																																																																																				0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		87	364	1	0	4.08182e-41	1	4.95533e-41	87	364				
KRTAP24-1	643803	broad.mit.edu	37	21	31654660	31654660	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31654660G>T	ENST00000340345.4	-	1	616	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	197	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGGGTTGGCAGCTGTTGGAAA	0.423																																						ENST00000340345.4																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(589-591)agC>agA		keratin associated protein 24-1							108.0	106.0	107.0					21																	31654660		1860	4106	5966	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654660G>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.591C>A	21.37:g.31654660G>T	ENSP00000339238:p.Ser197Arg						p.S197R	NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN			1	616	-			197			6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].		Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.591C>A	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	g	2.552	-0.303796	0.05495	.	.	ENSG00000188694	ENST00000340345	T	0.37058	1.22	4.93	0.789	0.18607	.	1.016370	0.07852	N	0.964882	T	0.20373	0.0490	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.29212	-1.0019	10	0.25106	T	0.35	-0.0641	6.5864	0.22622	0.0855:0.0:0.4606:0.454	.	197	Q3LI83	KR241_HUMAN	R	197	ENSP00000339238:S197R	ENSP00000339238:S197R	S	-	3	2	KRTAP24-1	30576531	0.139000	0.22563	0.000000	0.03702	0.001000	0.01503	0.131000	0.15870	0.022000	0.15160	-0.213000	0.12676	AGC		0.423	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		103	349	1	0	1.04553e-52	1	1.30113e-52	103	349				
HECTD4	283450	broad.mit.edu	37	12	112642296	112642296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112642296G>A	ENST00000430131.2	-	52	8142	c.6997C>T	c.(6997-6999)Cga>Tga	p.R2333*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R2583*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.R2609*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2333					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R2583*(1)									AAACCTTTTCGAACTTTATCA	0.393																																						ENST00000550722.1																			1	Substitution - Nonsense(1)	p.R2583*(1)	large_intestine(1)								c.(7825-7827)Cga>Tga		HECT domain containing E3 ubiquitin protein ligase 4							100.0	102.0	102.0					12																	112642296		1925	4109	6034	SO:0001587	stop_gained	283450							g.chr12:112642296G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6997C>T	12.37:g.112642296G>A	ENSP00000404379:p.Arg2333*					HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R2583*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.R2333*	p.R2609*	NM_001109662.3	NP_001103132.3					53	8220	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.7825C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.053339	0.97241	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.02	6.02	0.97574	.	0.188661	0.34906	U	0.003584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	2583;2333;2609	.	ENSP00000366783:R2583X	R	-	1	2	C12orf51	111126679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.865000	0.98341	0.655000	0.94253	CGA		0.393	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		19	347	0	0	0	1	0	19	347				
ANKRD12	23253	broad.mit.edu	37	18	9255009	9255009	+	Missense_Mutation	SNP	C	C	T	rs187421957	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9255009C>T	ENST00000262126.4	+	9	1984	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R559W	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	582						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGATCTTGTTCGGTATGATAA	0.333													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19035	0.0		0.0	False		,,,				2504	0.0					ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(1675-1677)Cgg>Tgg		ankyrin repeat domain 12							64.0	66.0	65.0					18																	9255009		2202	4297	6499	SO:0001583	missense	23253					nucleus		g.chr18:9255009C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1744C>T	18.37:g.9255009C>T	ENSP00000262126:p.Arg582Trp					ANKRD12_ENST00000262126.3_Missense_Mutation_p.R582W|ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W	p.R559W	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	1932	+			582					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.1675C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021177	0.54576	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92647	-3.08;-3.08	5.92	4.97	0.65823	.	0.057065	0.64402	D	0.000001	D	0.95984	0.8692	M	0.77820	2.39	0.47778	D	0.999513	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.971	D	0.96146	0.9104	10	0.87932	D	0	-8.2663	17.8287	0.88674	0.1302:0.8698:0.0:0.0	.	209;559;582	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	W	559;582;289	ENSP00000372932:R559W;ENSP00000262126:R582W	ENSP00000262126:R582W	R	+	1	2	ANKRD12	9245009	1.000000	0.71417	0.937000	0.37676	0.988000	0.76386	3.404000	0.52623	2.814000	0.96858	0.585000	0.79938	CGG		0.333	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		59	269	0	0	0	1	0	59	269				
CACNA1F	778	broad.mit.edu	37	X	49071930	49071930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49071930C>T	ENST00000376265.2	-	28	3404	c.3343G>A	c.(3343-3345)Gtg>Atg	p.V1115M	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1115	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGAAGAACACTGAGATCTCC	0.507																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3343-3345)Gtg>Atg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						117.0	89.0	98.0					X																	49071930		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49071930C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3343G>A	X.37:g.49071930C>T	ENSP00000365441:p.Val1115Met					CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M|CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M	p.V1115M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			28	3404	-			1115			Dihydropyridine binding (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3343G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.875558	0.51695	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98684	-5.07;-5.07;-5.07	5.13	2.36	0.29203	Ion transport (1);	0.429330	0.22789	N	0.055631	D	0.96210	0.8764	L	0.41079	1.255	0.27141	N	0.961644	B;P	0.43314	0.225;0.803	B;B	0.42062	0.048;0.374	D	0.92451	0.5970	10	0.72032	D	0.01	.	7.5806	0.27963	0.0:0.5361:0.0:0.4639	.	1104;1115	F5CIQ9;O60840	.;CAC1F_HUMAN	M	1050;1104;1115	ENSP00000365427:V1050M;ENSP00000321618:V1104M;ENSP00000365441:V1115M	ENSP00000321618:V1104M	V	-	1	0	CACNA1F	48958874	0.971000	0.33674	0.597000	0.28824	0.952000	0.60782	1.968000	0.40500	0.391000	0.25143	0.597000	0.82753	GTG		0.507	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		31	110	0	0	0	1	0	31	110				
TTLL8	164714	broad.mit.edu	37	22	50493029	50493029	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50493029A>C	ENST00000266182.6	-	1	26	c.27T>G	c.(25-27)acT>acG	p.T9T	TTLL8_ENST00000440475.1_Silent_p.T9T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	0					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		agtacctggaagtctgtttcc	0.587																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(25-27)acT>acG		tubulin tyrosine ligase-like family, member 8							49.0	53.0	52.0					22																	50493029		1927	4127	6054	SO:0001819	synonymous_variant	164714							g.chr22:50493029A>C			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.27T>G	22.37:g.50493029A>C						TTLL8_ENST00000440475.1_Silent_p.T9T	p.T9T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	1	26	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.27T>G																																																																																					0.587	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		7	37	0	0	0	1	0	7	37				
DPP10	57628	broad.mit.edu	37	2	116520160	116520160	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116520160A>G	ENST00000410059.1	+	12	1567	c.1087A>G	c.(1087-1089)Aca>Gca	p.T363A	DPP10_ENST00000310323.8_Missense_Mutation_p.T356A|DPP10_ENST00000409163.1_Missense_Mutation_p.T313A|DPP10_ENST00000393147.2_Missense_Mutation_p.T367A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	363						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATGAGATGACATCAGATAC	0.353																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1087-1089)Aca>Gca		dipeptidyl-peptidase 10 (non-functional)							197.0	186.0	190.0					2																	116520160		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116520160A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1087A>G	2.37:g.116520160A>G	ENSP00000386565:p.Thr363Ala					DPP10_ENST00000409163.1_Missense_Mutation_p.T313A|DPP10_ENST00000393147.2_Missense_Mutation_p.T367A|DPP10_ENST00000310323.8_Missense_Mutation_p.T356A	p.T363A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			12	1567	+			363					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1087A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	8.327	0.825688	0.16749	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.99	3.83	0.44106	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.499086	0.21341	N	0.076137	T	0.09686	0.0238	N	0.01250	-0.93	0.29987	N	0.817178	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.15484	0.008;0.002;0.013;0.013	T	0.08932	-1.0698	10	0.33940	T	0.23	-1.6217	4.4942	0.11828	0.6423:0.1833:0.1744:0.0	.	356;367;359;363	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	A	363;313;367;356;313	ENSP00000386565:T363A;ENSP00000387038:T313A;ENSP00000376855:T367A;ENSP00000309066:T356A	ENSP00000309066:T356A	T	+	1	0	DPP10	116236630	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.676000	0.54612	0.927000	0.37143	0.454000	0.30748	ACA		0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		12	589	0	0	0	1	0	12	589				
MEGF11	84465	broad.mit.edu	37	15	66190303	66190303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190303G>A	ENST00000409699.2	-	23	3276	c.3104C>T	c.(3103-3105)gCc>gTc	p.A1035V	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V|MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1035					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGCCCATTGGCAGGGCTCTG	0.483																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(3103-3105)gCc>gTc		multiple EGF-like-domains 11							135.0	131.0	132.0					15																	66190303		2201	4298	6499	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66190303G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3104C>T	15.37:g.66190303G>A	ENSP00000386908:p.Ala1035Val					MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V	p.A1035V			A6BM72	MEG11_HUMAN			23	3276	-			1035					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.3104C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175873	0.57692	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.86956	-2.19;-2.07;-2.19;-2.07	5.23	5.23	0.72850	.	0.206026	0.23813	U	0.044314	T	0.81800	0.4899	N	0.22421	0.69	0.80722	D	1	B;B	0.28933	0.146;0.228	B;B	0.30855	0.057;0.121	T	0.80547	-0.1334	10	0.62326	D	0.03	.	17.9876	0.89159	0.0:0.0:1.0:0.0	.	1035;960	A6BM72;A6BM72-2	MEG11_HUMAN;.	V	1035;960;1035;960	ENSP00000386908:A1035V;ENSP00000288745:A960V;ENSP00000414475:A1035V;ENSP00000378987:A960V	ENSP00000288745:A960V	A	-	2	0	MEGF11	63977357	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.576000	0.60915	2.713000	0.92767	0.655000	0.94253	GCC		0.483	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		78	373	0	0	0	1	0	78	373				
SRRM2	23524	broad.mit.edu	37	16	2812144	2812144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812144C>T	ENST00000301740.8	+	11	2164	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	539	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCTCCTCAGCGACCAGGCTG	0.607																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1615-1617)Cga>Tga		serine/arginine repetitive matrix 2							50.0	49.0	50.0					16																	2812144		2198	4300	6498	SO:0001587	stop_gained	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812144C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1615C>T	16.37:g.2812144C>T	ENSP00000301740:p.Arg539*						p.R539*	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2164	+			539			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	c.1615C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147204	0.97324	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	.	.	.	5.91	1.33	0.21861	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4156	13.596	0.61991	0.5421:0.4579:0.0:0.0	.	.	.	.	X	539;539;504	.	ENSP00000301740:R539X	R	+	1	2	SRRM2	2752145	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.373000	0.20484	0.330000	0.23485	0.655000	0.94253	CGA		0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			27	271	0	0	0	1	0	27	271				
FCGR2A	2212	broad.mit.edu	37	1	161487824	161487824	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.D279D|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	280					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(838-840)gaC>gaT		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						99.0	100.0	100.0					1																	161487824		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487824C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.840C>T	1.37:g.161487824C>T						FCGR2A_ENST00000367972.4_Silent_p.D279D|FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000461298.1_Silent_p.D15D	p.D280D	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	878	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		280					Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.840C>T	CCDS44264.1																																																																																				0.448	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		95	273	0	0	0	1	0	95	273				
ZC3H3	23144	broad.mit.edu	37	8	144589969	144589969	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144589969C>T	ENST00000262577.5	-	4	1693	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	554					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGGGAAGGGCGGGGCGCTGA	0.672																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1660-1662)ccG>ccA		zinc finger CCCH-type containing 3							49.0	57.0	55.0					8																	144589969		2202	4300	6502	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144589969C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1662G>A	8.37:g.144589969C>T							p.P554P	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		4	1693	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		554					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.1662G>A	CCDS6402.1																																																																																				0.672	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		55	391	0	0	0	1	0	55	391				
NOC4L	79050	broad.mit.edu	37	12	132636687	132636687	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636687C>T	ENST00000330579.1	+	14	1417	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	459					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ATCAACCAGGCCCTGTCCATG	0.692																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1375-1377)gCc>gTc		nucleolar complex associated 4 homolog (S. cerevisiae)							42.0	35.0	38.0					12																	132636687		2198	4290	6488	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132636687C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1376C>T	12.37:g.132636687C>T	ENSP00000328854:p.Ala459Val					NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	p.A459V	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	14	1417	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		459					Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.1376C>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	C	8.870	0.948946	0.18356	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.30448	1.53;1.53	4.59	-2.23	0.06930	.	0.527270	0.19773	N	0.106394	T	0.15305	0.0369	N	0.22421	0.69	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.41790	T	0.15	-3.0191	5.1389	0.14948	0.1287:0.4935:0.0:0.3778	.	459	Q9BVI4	NOC4L_HUMAN	V	459;74	ENSP00000328854:A459V;ENSP00000443336:A74V	ENSP00000328854:A459V	A	+	2	0	NOC4L	131202640	0.088000	0.21588	0.006000	0.13384	0.280000	0.26924	0.526000	0.22971	-0.980000	0.03524	0.478000	0.44815	GCC		0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		24	152	0	0	0	1	0	24	152				
PTPRH	5794	broad.mit.edu	37	19	55696921	55696921	+	Missense_Mutation	SNP	C	C	T	rs367681827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55696921C>T	ENST00000376350.3	-	18	3033	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1004	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGCCACTGCCGAAGCATCCT	0.627																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(3010-3012)cGg>cAg		protein tyrosine phosphatase, receptor type, H		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	47.0	50.0		2477,3011	4.2	0.0	19		50	0,8600		0,0,4300	no	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	826/938,1004/1116	55696921	1,13005	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55696921C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3011G>A	19.37:g.55696921C>T	ENSP00000365528:p.Arg1004Gln					PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	p.R1004Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	18	3033	-		Renal(1328;0.245)	1004			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3011G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568486	0.65651	2.27E-4	0.0	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.84070	-1.8;-1.8	5.21	4.18	0.49190	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.280866	0.19786	N	0.106116	D	0.86197	0.5875	L	0.37466	1.105	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.77557	0.987;0.99	D	0.86387	0.1733	10	0.56958	D	0.05	.	13.0867	0.59144	0.0:0.9202:0.0:0.0798	.	826;1004	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	1004;826	ENSP00000365528:R1004Q;ENSP00000263434:R826Q	ENSP00000263434:R826Q	R	-	2	0	PTPRH	60388733	0.090000	0.21635	0.040000	0.18447	0.275000	0.26752	2.734000	0.47368	1.357000	0.45904	0.650000	0.86243	CGG		0.627	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			27	192	0	0	0	1	0	27	192				
BMP2K	55589	broad.mit.edu	37	4	79832926	79832926	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79832926T>A	ENST00000335016.5	+	16	3391	c.3225T>A	c.(3223-3225)caT>caA	p.H1075Q	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1075					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGCCCTTCCATTCTCCAGACC	0.537																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(3223-3225)caT>caA		BMP2 inducible kinase							85.0	85.0	85.0					4																	79832926		1986	4175	6161	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79832926T>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3225T>A	4.37:g.79832926T>A	ENSP00000334836:p.His1075Gln					PAQR3_ENST00000295462.3_Intron	p.H1075Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			16	3391	+			1075					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.3225T>A	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.759|8.759	0.923117|0.923117	0.18056|0.18056	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000335016	.|T	.|0.47869	.|0.83	5.41|5.41	1.7|1.7	0.24286|0.24286	.|.	.|0.202762	.|0.40469	.|N	.|0.001092	T|T	0.54078|0.54078	0.1836|0.1836	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.55161	.|0.77	T|T	0.53655|0.53655	-0.8408|-0.8408	5|10	.|0.66056	.|D	.|0.02	-14.2633|-14.2633	7.5944|7.5944	0.28039|0.28039	0.0:0.3899:0.0:0.6101|0.0:0.3899:0.0:0.6101	.|.	.|1075	.|Q9NSY1	.|BMP2K_HUMAN	I|Q	768|1075	.|ENSP00000334836:H1075Q	.|ENSP00000334836:H1075Q	F|H	+|+	1|3	0|2	BMP2K|BMP2K	80051950|80051950	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.008000|0.008000	0.06430|0.06430	1.194000|1.194000	0.32174|0.32174	0.357000|0.357000	0.24183|0.24183	0.397000|0.397000	0.26171|0.26171	TTC|CAT		0.537	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		103	374	0	0	0	1	0	103	374				
NLE1	54475	broad.mit.edu	37	17	33464116	33464116	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33464116C>A	ENST00000442241.4	-	7	771	c.732G>T	c.(730-732)ggG>ggT	p.G244G	NLE1_ENST00000360831.5_Silent_p.G202G|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	244					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACTGGGTGTGCCCGGTGAGGA	0.627																																						ENST00000442241.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(730-732)ggG>ggT		notchless homolog 1 (Drosophila)							77.0	72.0	74.0					17																	33464116		2203	4300	6503	SO:0001819	synonymous_variant	54475					nucleolus		g.chr17:33464116C>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.732G>T	17.37:g.33464116C>A						NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.G202G	p.G244G	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN			7	771	-		Ovarian(249;0.17)	244					O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	37	c.732G>T	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235133	0.22626	.	.	ENSG00000073536	ENST00000436188	.	.	.	4.6	-1.56	0.08532	.	0.051829	0.85682	D	0.000000	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55798	-0.8084	6	0.87932	D	0	-24.1017	5.3062	0.15805	0.0:0.3098:0.1577:0.5325	.	.	.	.	V	24	.	ENSP00000416023:G24V	G	-	2	0	NLE1	30488229	0.059000	0.20769	0.992000	0.48379	0.991000	0.79684	-0.790000	0.04604	-0.084000	0.12595	-0.345000	0.07892	GGC		0.627	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		10	409	1	0	7.48243e-07	1	7.73841e-07	10	409				
ABI2	10152	broad.mit.edu	37	2	204231708	204231708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204231708C>A	ENST00000261016.6	+	2	346	c.15C>A	c.(13-15)tgC>tgA	p.C5*	ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000422511.2_Missense_Mutation_p.L76M|ABI2_ENST00000295851.5_Missense_Mutation_p.L76M|ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M			Q9NYB9	ABI2_HUMAN	abl-interactor 2	0					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCTGCAGATGCTGGATATCCA	0.443																																						ENST00000261016.6																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(13-15)tgC>tgA		abl-interactor 2							130.0	112.0	118.0					2																	204231708		2203	4300	6503	SO:0001587	stop_gained	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204231708C>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000261016.6:c.15C>A	2.37:g.204231708C>A	ENSP00000261016:p.Cys5*					ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000295851.4_Missense_Mutation_p.L76M|ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M|ABI2_ENST00000422511.2_Missense_Mutation_p.L76M	p.C5*			Q9NYB9	ABI2_HUMAN			2	346	+			0					B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Nonsense_Mutation	SNP	ENST00000261016.6	37	c.15C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715171|4.715171	0.89112|0.89112	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000261016|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000417864;ENST00000422511	.|D;D;D;D;D;D	.|0.92858	.|-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.42|5.42	3.29|3.29	0.37713|0.37713	.|Target SNARE coiled-coil domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.93746	.|0.8001	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.988;0.971	.|D;P;D	.|0.70716	.|0.965;0.864;0.97	.|D	.|0.92531	.|0.6033	.|10	0.45353|0.42905	T|T	0.12|0.14	-8.6106|-8.6106	10.4872|10.4872	0.44729|0.44729	0.0:0.7672:0.0:0.2328|0.0:0.7672:0.0:0.2328	.|.	.|76;76;76	.|Q9NYB9-4;Q9NYB9;Q9NYB9-2	.|.;ABI2_HUMAN;.	X|M	5|76	.|ENSP00000295851:L76M;ENSP00000261017:L76M;ENSP00000408898:L76M;ENSP00000391433:L76M;ENSP00000414703:L76M;ENSP00000396249:L76M	ENSP00000261016:C5X|ENSP00000261017:L76M	C|L	+|+	3|1	2|2	ABI2|ABI2	203939953|203939953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.708000|2.708000	0.47152|0.47152	1.293000|1.293000	0.44690|0.44690	0.655000|0.655000	0.94253|0.94253	TGC|CTG		0.443	ABI2-201	KNOWN	basic	protein_coding	protein_coding		NM_005759		61	260	1	0	2.6711e-34	1	3.17551e-34	61	260				
RASGRP2	10235	broad.mit.edu	37	11	64504476	64504476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64504476C>T	ENST00000354024.3	-	9	1096	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000377494.1_Missense_Mutation_p.A282T|RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	282	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCCTGTCGCCGTCACTAGT	0.607																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(844-846)Gcg>Acg		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							40.0	40.0	40.0					11																	64504476		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64504476C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.844G>A	11.37:g.64504476C>T	ENSP00000338864:p.Ala282Thr					RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000354024.3_Missense_Mutation_p.A282T	p.A282T			Q7LDG7	GRP2_HUMAN			8	1766	-			282			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.844G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699499	0.48307	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.12	5.12	0.69794	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.119837	0.56097	D	0.000027	T	0.19725	0.0474	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.04140	-1.0974	10	0.87932	D	0	-6.3758	11.5176	0.50532	0.1792:0.8208:0.0:0.0	.	282;282	Q7LDG7;A6NDC7	GRP2_HUMAN;.	T	282	ENSP00000366714:A282T;ENSP00000377953:A282T;ENSP00000366717:A282T;ENSP00000338864:A282T	ENSP00000338864:A282T	A	-	1	0	RASGRP2	64261052	0.993000	0.37304	0.929000	0.37066	0.395000	0.30598	3.158000	0.50723	2.550000	0.86006	0.579000	0.79373	GCG		0.607	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		37	109	0	0	0	1	0	37	109				
DCBLD2	131566	broad.mit.edu	37	3	98541110	98541110	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98541110A>C	ENST00000326840.6	-	6	1154	c.792T>G	c.(790-792)taT>taG	p.Y264*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	264	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						AACTTTCATAATAGGGGATAC	0.393																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(790-792)taT>taG		discoidin, CUB and LCCL domain containing 2							66.0	59.0	61.0					3																	98541110		1893	4123	6016	SO:0001587	stop_gained	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98541110A>C		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.792T>G	3.37:g.98541110A>C	ENSP00000321573:p.Tyr264*					DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*	p.Y264*	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			6	1154	-			264			LCCL.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Nonsense_Mutation	SNP	ENST00000326840.6	37	c.792T>G	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	A	37	6.508712	0.97624	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	.	.	.	5.83	4.01	0.46588	.	0.252743	0.42294	D	0.000734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9355	7.1549	0.25632	0.2823:0.0:0.7177:0.0	.	.	.	.	X	264;218;264	.	ENSP00000321573:Y264X	Y	-	3	2	DCBLD2	100023800	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	2.362000	0.44169	0.764000	0.33197	-0.472000	0.04984	TAT		0.393	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		30	130	0	0	0	1	0	30	130				
TCN2	6948	broad.mit.edu	37	22	31011762	31011762	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011762C>A	ENST00000215838.3	+	6	1422	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	TCN2_ENST00000405742.3_Missense_Mutation_p.L306M|TCN2_ENST00000407817.3_Missense_Mutation_p.L283M			P20062	TCO2_HUMAN	transcobalamin II	310					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAGACTGTCTGGCACCACG	0.532																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(928-930)Ctg>Atg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						149.0	127.0	135.0					22																	31011762		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011762C>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.928C>A	22.37:g.31011762C>A	ENSP00000215838:p.Leu310Met					TCN2_ENST00000407817.3_Missense_Mutation_p.L283M|TCN2_ENST00000405742.3_Missense_Mutation_p.L306M	p.L310M			P20062	TCO2_HUMAN			6	1422	+			310					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.928C>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969362	0.53614	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.35421	1.31;1.31;1.31	5.33	2.1	0.27182	.	0.995000	0.08159	N	0.988829	T	0.29158	0.0725	N	0.22421	0.69	0.49299	D	0.999773	P;B;B	0.49696	0.927;0.436;0.436	P;B;B	0.45343	0.477;0.189;0.189	T	0.08027	-1.0742	10	0.48119	T	0.1	-1.1978	8.6513	0.34035	0.0:0.6047:0.314:0.0813	.	283;306;310	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	M	310;306;283	ENSP00000215838:L310M;ENSP00000385914:L306M;ENSP00000384914:L283M	ENSP00000215838:L310M	L	+	1	2	TCN2	29341762	0.375000	0.25089	0.993000	0.49108	0.850000	0.48378	0.998000	0.29744	0.883000	0.36040	0.655000	0.94253	CTG		0.532	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		41	479	1	0	2.47872e-24	1	2.8326e-24	41	479				
MAPK9	5601	broad.mit.edu	37	5	179676059	179676059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179676059C>T	ENST00000452135.2	-	6	828	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGTTAGTGCACGCTGTCCG	0.512																																						ENST00000452135.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(529-531)tGc>tAc		mitogen-activated protein kinase 9							155.0	156.0	156.0					5																	179676059		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179676059C>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.530G>A	5.37:g.179676059C>T	ENSP00000394560:p.Cys177Tyr					MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR	p.C177Y			P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	828	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	177			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.530G>A	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703293	0.48412	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	N	0.16201	0.385	0.80722	D	1	B;B;B;B;B	0.33612	0.148;0.297;0.297;0.297;0.419	B;B;B;B;B	0.34824	0.015;0.19;0.015;0.015;0.041	T	0.56547	-0.7961	10	0.72032	D	0.01	-16.9108	19.6612	0.95875	0.0:1.0:0.0:0.0	.	177;177;177;177;177	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	177	ENSP00000394560:C177Y;ENSP00000377028:C177Y;ENSP00000389338:C177Y;ENSP00000345524:C177Y;ENSP00000321410:C177Y;ENSP00000397422:C177Y;ENSP00000443149:C177Y	ENSP00000345524:C177Y	C	-	2	0	MAPK9	179608665	1.000000	0.71417	0.995000	0.50966	0.294000	0.27393	7.711000	0.84669	2.639000	0.89480	0.650000	0.86243	TGC		0.512	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			285	896	0	0	0	1	0	285	896				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		12	88	0	0	0	1	0	12	88				
NUPL1	9818	broad.mit.edu	37	13	25912815	25912815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25912815G>A	ENST00000381736.3	+	15	1826	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	526	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CACCACAGGGGCCTCCACATT	0.403																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000381736.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(1576-1578)Gcc>Acc		nucleoporin like 1							111.0	118.0	116.0					13																	25912815		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25912815G>A	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1576G>A	13.37:g.25912815G>A	ENSP00000371155:p.Ala526Thr					NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T|NUPL1_ENST00000466694.1_3'UTR	p.A526T	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	15	1826	+		Lung SC(185;0.0225)|Breast(139;0.0351)	526			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.1576G>A	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108680	0.77096	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.32753	1.44;1.51	5.65	3.92	0.45320	.	0.306795	0.36778	N	0.002417	T	0.22936	0.0554	L	0.38531	1.155	0.37791	D	0.927377	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.08659	-1.0711	10	0.66056	D	0.02	-3.7116	7.1388	0.25543	0.1416:0.0:0.72:0.1384	.	514;526	A6NI12;Q9BVL2	.;NUPL1_HUMAN	T	526;503;514	ENSP00000371155:A526T;ENSP00000371137:A514T	ENSP00000318459:A503T	A	+	1	0	NUPL1	24810815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.325000	0.33724	0.754000	0.32968	0.558000	0.71614	GCC		0.403	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			57	440	0	0	0	1	0	57	440				
IGHV3-30	28439	broad.mit.edu	37	14	106791288	106791288	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106791288A>C	ENST00000390613.2	-	0	147									immunoglobulin heavy variable 3-30																		AGACTCCACCAGCTGCACCTG	0.542																																						ENST00000390613.2																			0																				32.0	51.0	45.0					14																	106791288		1727	4049	5776			0							g.chr14:106791288A>C	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791288A>C														0	147	-									RNA	SNP	ENST00000390613.2	37																																																																																						0.542	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		62	868	0	0	0	1	0	62	868				
MAML2	84441	broad.mit.edu	37	11	95825100	95825100	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95825100G>A	ENST00000524717.1	-	2	3379	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	699					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCTGCAATGGGCTGATTCTGC	0.478			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2095-2097)Ccc>Tcc		mastermind-like 2 (Drosophila)							77.0	79.0	79.0					11																	95825100		2111	4250	6361	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825100G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2095C>T	11.37:g.95825100G>A	ENSP00000434552:p.Pro699Ser						p.P699S	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			2	3379	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	699					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2095C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	1.383	-0.583013	0.03827	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.43688	0.94;0.94	5.44	2.32	0.28847	.	0.300651	0.27749	N	0.018011	T	0.22003	0.0530	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13818	-1.0495	10	0.27082	T	0.32	-1.027	4.0119	0.09626	0.2704:0.2275:0.5021:0.0	.	699	Q8IZL2	MAML2_HUMAN	S	699	ENSP00000434552:P699S;ENSP00000412394:P699S	ENSP00000412394:P699S	P	-	1	0	MAML2	95464748	0.895000	0.30542	0.002000	0.10522	0.111000	0.19643	0.223000	0.17719	0.147000	0.19030	0.655000	0.94253	CCC		0.478	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			4	86	0	0	0	1	0	4	86				
NAGLU	4669	broad.mit.edu	37	17	40695928	40695928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695928C>T	ENST00000225927.2	+	6	2005	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	635					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GAGGCCGAGGCCGATTTCTAC	0.642																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(1903-1905)gCc>gTc		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						24.0	21.0	22.0					17																	40695928		2202	4296	6498	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695928C>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1904C>T	17.37:g.40695928C>T	ENSP00000225927:p.Ala635Val					RP11-400F19.8_ENST00000585572.1_RNA	p.A635V	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2005	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	635						Missense_Mutation	SNP	ENST00000225927.2	37	c.1904C>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469090	0.63625	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98717	-5.09	4.69	2.56	0.30785	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.109437	0.64402	D	0.000007	D	0.98235	0.9416	M	0.73962	2.25	0.47547	D	0.999454	D	0.52996	0.957	P	0.52823	0.71	D	0.96897	0.9657	10	0.30078	T	0.28	-17.0091	13.5916	0.61964	0.0:0.7022:0.2978:0.0	.	635	P54802	ANAG_HUMAN	V	635;311	ENSP00000225927:A635V	ENSP00000225927:A635V	A	+	2	0	NAGLU	37949454	1.000000	0.71417	0.830000	0.32933	0.741000	0.42261	4.670000	0.61583	0.633000	0.30452	0.561000	0.74099	GCC		0.642	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		11	71	0	0	0	1	0	11	71				
FAT3	120114	broad.mit.edu	37	11	92085814	92085814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92085814A>G	ENST00000298047.6	+	1	553	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R|FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGTTGCCCAGGTGACTGCA	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(535-537)cAg>cGg		FAT atypical cadherin 3							64.0	63.0	64.0					11																	92085814		1878	4123	6001	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085814A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.536A>G	11.37:g.92085814A>G	ENSP00000298047:p.Gln179Arg	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R	p.Q179R			Q8TDW7	FAT3_HUMAN			1	553	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	179			Cadherin 2.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.536A>G		.	.	.	.	.	.	.	.	.	.	A	1.197	-0.633542	0.03584	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.26	5.26	0.73747	.	.	.	.	.	T	0.30696	0.0773	N	0.16233	0.39	0.32415	N	0.550188	B	0.25105	0.118	B	0.26969	0.075	T	0.19778	-1.0295	9	0.06494	T	0.89	.	14.6575	0.68844	1.0:0.0:0.0:0.0	.	179	Q8TDW7-3	.	R	179;179;179;29	ENSP00000298047:Q179R;ENSP00000387040:Q179R;ENSP00000443786:Q179R;ENSP00000432586:Q29R	ENSP00000298047:Q179R	Q	+	2	0	FAT3	91725462	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.197000	0.65141	2.108000	0.64289	0.533000	0.62120	CAG		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		52	227	0	0	0	1	0	52	227				
KRTAP19-1	337882	broad.mit.edu	37	21	31852458	31852458	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31852458C>A	ENST00000390689.2	-	1	205	c.179G>T	c.(178-180)gGa>gTa	p.G60V		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	60	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCGTAGCCTCCAAAGCCAGA	0.522																																						ENST00000390689.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(178-180)gGa>gTa		keratin associated protein 19-1							217.0	231.0	226.0					21																	31852458		2203	4300	6503	SO:0001583	missense	337882					intermediate filament		g.chr21:31852458C>A	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.179G>T	21.37:g.31852458C>A	ENSP00000375108:p.Gly60Val						p.G60V	NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN			1	205	-			60			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	c.179G>T	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	C	3.115	-0.181755	0.06340	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.11277	2.79	2.28	1.38	0.22167	.	0.000000	0.39475	U	0.001353	T	0.12860	0.0312	.	.	.	0.19945	N	0.999949	P	0.45986	0.87	P	0.48400	0.576	T	0.07654	-1.0761	9	0.87932	D	0	.	4.9284	0.13905	0.0:0.8163:0.0:0.1837	.	60	Q8IUB9	KR191_HUMAN	V	60;51	ENSP00000375108:G60V	ENSP00000375108:G60V	G	-	2	0	KRTAP19-1	30774329	0.667000	0.27484	0.004000	0.12327	0.021000	0.10359	1.794000	0.38774	0.500000	0.27991	0.313000	0.20887	GGA		0.522	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2			44	1708	1	0	3.5997e-14	1	3.90403e-14	44	1708				
PXDNL	137902	broad.mit.edu	37	8	52258438	52258438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52258438C>A	ENST00000356297.4	-	20	4071	c.3971G>T	c.(3970-3972)aGc>aTc	p.S1324I	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1324					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACAGGATAGCTGTATTGAGC	0.388																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3970-3972)aGc>aTc		peroxidasin homolog (Drosophila)-like							147.0	138.0	141.0					8																	52258438		1924	4125	6049	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52258438C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3971G>T	8.37:g.52258438C>A	ENSP00000348645:p.Ser1324Ile					PXDNL_ENST00000543296.1_Intron	p.S1324I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			20	4071	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1324					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3971G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.765638|1.765638	0.31228|0.31228	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.67698	.|-0.28	4.53|4.53	-0.773|-0.773	0.10995|0.10995	.|.	.|.	.|.	.|.	.|.	T|T	0.55832|0.55832	0.1945|0.1945	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.48016	.|0.904	.|P	.|0.46543	.|0.52	T|T	0.49000|0.49000	-0.8984|-0.8984	5|9	.|0.51188	.|T	.|0.08	.|.	6.3897|6.3897	0.21579|0.21579	0.0:0.5412:0.1284:0.3304|0.0:0.5412:0.1284:0.3304	.|.	.|1324	.|A1KZ92	.|PXDNL_HUMAN	S|I	398|1324	.|ENSP00000348645:S1324I	.|ENSP00000348645:S1324I	A|S	-|-	1|2	0|0	PXDNL|PXDNL	52420991|52420991	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.259000|-0.259000	0.08721|0.08721	-0.976000|-0.976000	0.03542|0.03542	-0.797000|-0.797000	0.03246|0.03246	GCT|AGC		0.388	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		36	198	1	0	2.59497e-14	1	2.81812e-14	36	198				
NPC1L1	29881	broad.mit.edu	37	7	44579904	44579904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579904C>T	ENST00000289547.4	-	2	147	c.92G>A	c.(91-93)gGc>gAc	p.G31D	NPC1L1_ENST00000423141.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	31					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCGCAGTAGCCAGGCTGGTG	0.612																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(91-93)gGc>gAc		NPC1-like 1	Ezetimibe(DB00973)						79.0	74.0	75.0					7																	44579904		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579904C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.92G>A	7.37:g.44579904C>T	ENSP00000289547:p.Gly31Asp					NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G31D	p.G31D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	147	-			31					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.92G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	17.29	3.353004	0.61293	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.17	4.29	0.51040	.	0.064498	0.64402	N	0.000011	D	0.97801	0.9278	M	0.83012	2.62	0.49389	D	0.999782	P;D;D;D	0.89917	0.941;1.0;0.995;1.0	B;D;P;D	0.97110	0.369;1.0;0.739;0.999	D	0.97747	1.0212	10	0.56958	D	0.05	-27.0967	11.3615	0.49646	0.0:0.9104:0.0:0.0896	.	31;31;31;31	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	D	31	ENSP00000289547:G31D;ENSP00000370552:G31D;ENSP00000438033:G31D;ENSP00000404670:G31D	ENSP00000289547:G31D	G	-	2	0	NPC1L1	44546429	0.991000	0.36638	0.924000	0.36721	0.716000	0.41182	3.187000	0.50950	1.172000	0.42781	0.561000	0.74099	GGC		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		56	219	0	0	0	1	0	56	219				
TTI1	9675	broad.mit.edu	37	20	36640365	36640365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36640365G>T	ENST00000373448.2	-	3	2092	c.1854C>A	c.(1852-1854)tgC>tgA	p.C618*	TTI1_ENST00000373447.3_Nonsense_Mutation_p.C618*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.C618*|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	618					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGTTCATGGAGCAAATAGTGG	0.458																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1852-1854)tgC>tgA		TELO2 interacting protein 1							139.0	136.0	137.0					20																	36640365		2203	4300	6503	SO:0001587	stop_gained	9675						binding	g.chr20:36640365G>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1854C>A	20.37:g.36640365G>T	ENSP00000362547:p.Cys618*					TTI1_ENST00000373447.3_Nonsense_Mutation_p.C618*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.C618*|TTI1_ENST00000487362.1_5'UTR	p.C618*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2092	-			618					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP	ENST00000373448.2	37	c.1854C>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322914	0.95708	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.23	3.16	0.36331	.	0.144292	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.7978	8.3783	0.32455	0.2575:0.0:0.7425:0.0	.	.	.	.	X	618	.	ENSP00000362546:C618X	C	-	3	2	TTI1	36073779	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.011000	0.49567	1.436000	0.47453	0.655000	0.94253	TGC		0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		163	620	1	0	1.97036e-79	1	2.51827e-79	163	620				
CCDC93	54520	broad.mit.edu	37	2	118758448	118758448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118758448C>A	ENST00000376300.2	-	4	449	c.312G>T	c.(310-312)gaG>gaT	p.E104D	CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|RP11-98C1.1_ENST00000588733.1_RNA|RP11-98C1.2_ENST00000591103.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGGTGGGGCTCCAGCTGGT	0.453																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(310-312)gaG>gaT		coiled-coil domain containing 93							114.0	112.0	113.0					2																	118758448		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118758448C>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.312G>T	2.37:g.118758448C>A	ENSP00000365477:p.Glu104Asp					CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	p.E104D	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			4	449	-			104					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.312G>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126002	0.77436	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.49432	0.78;0.78	5.01	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.80508	2.5	0.50813	D	0.999895	D	0.89917	1.0	D	0.83275	0.996	T	0.70163	-0.4947	10	0.44086	T	0.13	-23.1679	12.5642	0.56300	0.0:0.918:0.0:0.082	.	104	Q567U6	CCD93_HUMAN	D	104	ENSP00000365477:E104D;ENSP00000324135:E104D	ENSP00000324135:E104D	E	-	3	2	CCDC93	118474918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.082000	0.30803	1.480000	0.48289	0.591000	0.81541	GAG		0.453	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		17	239	1	0	1.99824e-07	1	2.07512e-07	17	239				
SACS	26278	broad.mit.edu	37	13	23929960	23929960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929960C>T	ENST00000382292.3	-	7	1064	c.791G>A	c.(790-792)gGc>gAc	p.G264D	SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.G264D|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	264					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.G117D(1)|p.G264D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGAAAATTGCCGTTTATAAA	0.388																																						ENST00000382298.3																			2	Substitution - Missense(2)	p.G117D(1)|p.G264D(1)	endometrium(2)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(790-792)gGc>gAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							113.0	108.0	109.0					13																	23929960		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929960C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.791G>A	13.37:g.23929960C>T	ENSP00000371729:p.Gly264Asp					SACS_ENST00000382292.3_Missense_Mutation_p.G264D|SACS_ENST00000402364.1_5'UTR	p.G264D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1379	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	264					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.791G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342613	0.61073	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	D;D	0.91407	-2.84;-2.84	5.94	5.1	0.69264	ATPase-like, ATP-binding domain (2);	0.110179	0.64402	D	0.000010	D	0.92668	0.7670	L	0.47716	1.5	0.45490	D	0.998454	D;B;B	0.56968	0.978;0.147;0.173	P;B;B	0.61397	0.888;0.138;0.068	D	0.91868	0.5505	10	0.36615	T	0.2	.	17.0221	0.86436	0.0:0.8658:0.1342:0.0	.	163;51;264	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	D	264	ENSP00000371729:G264D;ENSP00000371735:G264D	ENSP00000371729:G264D	G	-	2	0	SACS	22827960	1.000000	0.71417	0.649000	0.29536	0.772000	0.43724	5.028000	0.64115	1.506000	0.48736	0.650000	0.86243	GGC		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		86	337	0	0	0	1	0	86	337				
KRT6C	286887	broad.mit.edu	37	12	52864412	52864412	+	Silent	SNP	G	G	A	rs371866175	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52864412G>A	ENST00000252250.6	-	6	1127	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	360	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCAGCTCCTCGTACTGCAGCC	0.542													G|||	2	0.000399361	0.0008	0.0	5008	,	,		22915	0.0		0.0	False		,,,				2504	0.001					ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1078-1080)taC>taT		keratin 6C		G		1,4403	2.1+/-5.4	0,1,2201	70.0	63.0	65.0		1080	-2.9	1.0	12		65	2,8558	2.2+/-6.3	0,2,4278	no	coding-synonymous	KRT6C	NM_173086.4		0,3,6479	AA,AG,GG		0.0234,0.0227,0.0231		360/565	52864412	3,12961	2202	4280	6482	SO:0001819	synonymous_variant	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52864412G>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1080C>T	12.37:g.52864412G>A							p.Y360Y	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	6	1127	-			360			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	c.1080C>T	CCDS8829.1																																																																																				0.542	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		58	330	0	0	0	1	0	58	330				
NAIF1	203245	broad.mit.edu	37	9	130828911	130828911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130828911G>A	ENST00000373078.4	-	1	689	c.470C>T	c.(469-471)cCc>cTc	p.P157L	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	157					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGTGGCCGAGGGTCCGAGGGC	0.652																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(469-471)cCc>cTc		nuclear apoptosis inducing factor 1							35.0	35.0	35.0					9																	130828911		2202	4300	6502	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130828911G>A	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.470C>T	9.37:g.130828911G>A	ENSP00000362170:p.Pro157Leu						p.P157L	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			1	689	-			157					B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.470C>T	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043163	0.36085	.	.	ENSG00000171169	ENST00000373078	.	.	.	4.05	4.05	0.47172	.	0.416727	0.25566	N	0.029795	T	0.35508	0.0934	N	0.03608	-0.345	0.46131	D	0.998881	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	9	0.38643	T	0.18	-8.1042	16.4788	0.84152	0.0:0.0:1.0:0.0	.	157	Q69YI7	NAIF1_HUMAN	L	157	.	ENSP00000362170:P157L	P	-	2	0	NAIF1	129868732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.430000	0.90283	2.557000	0.86248	0.561000	0.74099	CCC		0.652	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		12	342	0	0	0	1	0	12	342				
CASP5	838	broad.mit.edu	37	11	104872894	104872894	+	Missense_Mutation	SNP	C	C	T	rs142438968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104872894C>T	ENST00000260315.3	-	5	577	c.578G>A	c.(577-579)cGc>cAc	p.R193H	CASP5_ENST00000393139.2_Silent_p.T123T|CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000393141.2_Missense_Mutation_p.R206H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	193					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GAGAGCCAGGCGTCTGCGGTC	0.483																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(616-618)cGc>cAc		caspase 5, apoptosis-related cysteine peptidase		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4402		0,2,2200	129.0	118.0	122.0		404,152,617,578	4.0	0.2	11	dbSNP_134	122	0,8598		0,0,4299	no	missense,missense,missense,missense	CASP5	NM_001136109.1,NM_001136110.1,NM_001136112.1,NM_004347.3	29,29,29,29	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	135/377,51/293,206/448,193/435	104872894	2,13000	2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104872894C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.578G>A	11.37:g.104872894C>T	ENSP00000260315:p.Arg193His					CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H|CASP5_ENST00000260315.3_Missense_Mutation_p.R193H|CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000393139.2_Silent_p.T123T	p.R206H	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	5	648	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	193					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.617G>A	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204119	0.38905	4.54E-4	0.0	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	3.98	3.98	0.46160	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.982;0.993;0.993;0.988	T	0.72293	-0.4336	10	0.72032	D	0.01	.	13.923	0.63945	0.0:1.0:0.0:0.0	.	51;135;193;206	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	H	206;51;193;135;206;51	ENSP00000376849:R206H;ENSP00000398130:R51H;ENSP00000260315:R193H;ENSP00000388365:R135H;ENSP00000436877:R206H;ENSP00000434471:R51H	ENSP00000260315:R193H	R	-	2	0	CASP5	104378104	0.077000	0.21312	0.156000	0.22583	0.057000	0.15508	1.320000	0.33666	1.942000	0.56320	0.411000	0.27672	CGC		0.483	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		88	445	0	0	0	1	0	88	445				
SLC7A2	6542	broad.mit.edu	37	8	17396407	17396407	+	Intron	SNP	C	C	T	rs530793445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17396407C>T	ENST00000494857.1	+	3	196				SLC7A2_ENST00000398090.3_Missense_Mutation_p.P25L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.P25L|SLC7A2_ENST00000470360.1_Missense_Mutation_p.P25L|SLC7A2_ENST00000522656.1_Intron	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGCCCCACCGGTTTGCGAC	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17517	0.0		0.0	False		,,,				2504	0.0					ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(73-75)cCg>cTg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						103.0	93.0	96.0					8																	17396407		1845	4088	5933	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17396407C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4420C>T	8.37:g.17396407C>T						SLC7A2_ENST00000004531.10_Missense_Mutation_p.P25L|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.P25L	p.P25L			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	191	+			0					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.74C>T	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	c	1.728	-0.494862	0.04322	.	.	ENSG00000003989	ENST00000470360;ENST00000004531;ENST00000398090	D;D;D	0.88354	-2.37;-2.23;-2.37	3.09	-6.17	0.02091	.	.	.	.	.	T	0.81128	0.4758	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63216	-0.6687	8	0.72032	D	0.01	.	8.2694	0.31836	0.0:0.2783:0.1131:0.6086	.	25;25	P52569-3;P52569-2	.;.	L	25	ENSP00000419873:P25L;ENSP00000004531:P25L;ENSP00000381164:P25L	ENSP00000004531:P25L	P	+	2	0	SLC7A2	17440786	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.672000	0.05244	-2.514000	0.00502	-3.196000	0.00055	CCG		0.418	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		74	333	0	0	0	1	0	74	333				
DGAT1	8694	broad.mit.edu	37	8	145541760	145541760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145541760C>T	ENST00000332324.4	-	8	1022	c.749G>A	c.(748-750)cGc>cAc	p.R250H	DGAT1_ENST00000531896.1_Silent_p.P280P|DGAT1_ENST00000527438.1_5'Flank|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	250					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCCTCACCGCGGTAGGTCAG	0.632																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(748-750)cGc>cAc		diacylglycerol O-acyltransferase 1							57.0	60.0	59.0					8																	145541760		2203	4296	6499	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541760C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.749G>A	8.37:g.145541760C>T	ENSP00000332258:p.Arg250His					DGAT1_ENST00000531896.1_Silent_p.P280P	p.R250H	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1022	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		250					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.749G>A	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214885	0.39102	.	.	ENSG00000185000	ENST00000332324	T	0.73047	-0.71	4.68	1.75	0.24633	.	0.442530	0.22651	N	0.057328	T	0.67841	0.2936	L	0.52364	1.645	0.47123	D	0.999321	D	0.55605	0.972	P	0.51833	0.681	T	0.64424	-0.6411	10	0.46703	T	0.11	-5.946	6.3125	0.21173	0.0:0.6649:0.1536:0.1815	.	250	O75907	DGAT1_HUMAN	H	250	ENSP00000332258:R250H	ENSP00000332258:R250H	R	-	2	0	DGAT1	145512568	0.152000	0.22762	0.078000	0.20375	0.589000	0.36550	0.550000	0.23345	0.554000	0.29061	0.484000	0.47621	CGC		0.632	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		52	323	0	0	0	1	0	52	323				
STX16	8675	broad.mit.edu	37	20	57248758	57248758	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57248758G>A	ENST00000371141.4	+	8	1588	c.864G>A	c.(862-864)caG>caA	p.Q288Q	STX16_ENST00000358029.4_Silent_p.Q284Q|STX16_ENST00000359617.4_Silent_p.Q235Q|STX16_ENST00000361770.5_Silent_p.Q271Q|STX16_ENST00000371132.4_Silent_p.Q267Q|STX16_ENST00000361830.3_Silent_p.Q288Q|STX16_ENST00000355957.5_Silent_p.Q271Q|STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Silent_p.Q288Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	288	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTTTGAAACAGCTTCACAAGG	0.353																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(862-864)caG>caA		syntaxin 16							94.0	84.0	87.0					20																	57248758		2203	4300	6503	SO:0001819	synonymous_variant	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57248758G>A	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.864G>A	20.37:g.57248758G>A						STX16_ENST00000371132.4_Silent_p.Q267Q|STX16_ENST00000361770.5_Silent_p.Q271Q|STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Silent_p.Q288Q|STX16_ENST00000358029.4_Silent_p.Q284Q|STX16_ENST00000361830.3_Silent_p.Q288Q|STX16_ENST00000355957.5_Silent_p.Q271Q|STX16_ENST00000359617.4_Silent_p.Q235Q	p.Q288Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		8	1588	+	all_lung(29;0.0175)		288			t-SNARE coiled-coil homology.		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	37	c.864G>A	CCDS13468.1																																																																																				0.353	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		32	165	0	0	0	1	0	32	165				
RP11-146E13.4	0	broad.mit.edu	37	14	19857058	19857058	+	lincRNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19857058C>A	ENST00000548109.1	+	0	72																											AGTTCAAATTCTCCACCAACC	0.353																																						ENST00000548109.1																			0																																																			0							g.chr14:19857058C>A																													14.37:g.19857058C>A														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.353	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			38	169	1	0	3.33393e-15	1	3.63836e-15	38	169				
PAQR4	124222	broad.mit.edu	37	16	3021795	3021795	+	Missense_Mutation	SNP	G	G	A	rs377539451		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021795G>A	ENST00000318782.8	+	3	1098	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H|PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	223						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R223L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AATGTAGCCCGTCTGCCCGAG	0.672																																						ENST00000318782.8																			1	Substitution - Missense(1)	p.R223L(1)	lung(1)	kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(667-669)cGt>cAt		progestin and adipoQ receptor family member IV		G	HIS/ARG	0,4396		0,0,2198	47.0	50.0	49.0		668	4.8	1.0	16		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAQR4	NM_152341.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	223/274	3021795	1,12995	2198	4300	6498	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021795G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.668G>A	16.37:g.3021795G>A	ENSP00000321804:p.Arg223His					PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H|PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H	p.R223H	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1098	+			223					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.668G>A	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	18.26	3.583961	0.65992	0.0	1.16E-4	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.33865	1.39	4.81	4.81	0.61882	.	0.063428	0.64402	D	0.000004	T	0.56673	0.2001	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.973;0.929;0.982	T	0.58864	-0.7561	10	0.54805	T	0.06	-29.6577	15.3988	0.74818	0.0:0.0:1.0:0.0	.	148;184;223	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	H	223;149	ENSP00000321804:R223H	ENSP00000293978:R149H	R	+	2	0	PAQR4	2961796	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.200000	0.77838	2.220000	0.72140	0.457000	0.33378	CGT		0.672	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		30	323	0	0	0	1	0	30	323				
IFT46	56912	broad.mit.edu	37	11	118425964	118425964	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118425964T>G	ENST00000264021.3	-	5	677	c.259A>C	c.(259-261)Agg>Cgg	p.R87R	IFT46_ENST00000264020.2_Splice_Site_p.R138R|IFT46_ENST00000530872.1_Splice_Site_p.R138R	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	87					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTACTCACCTACTGATGTAC	0.463																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.e6+1		intraflagellar transport 46 homolog (Chlamydomonas)							108.0	106.0	107.0					11																	118425964		2200	4295	6495	SO:0001630	splice_region_variant	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118425964T>G	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.260+1A>C	11.37:g.118425964T>G						IFT46_ENST00000264021.3_Splice_Site_p.R87_splice|IFT46_ENST00000530872.1_Splice_Site_p.R138_splice	p.R138_splice	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			6	789	-			87					A8K0F6|Q9H6V5	Splice_Site	SNP	ENST00000264021.3	37	c.413_splice	CCDS53718.1																																																																																				0.463	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153	Silent	60	291	0	0	0	1	0	60	291				
CLPTM1	1209	broad.mit.edu	37	19	45490528	45490528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45490528C>T	ENST00000337392.5	+	8	1035	c.885C>T	c.(883-885)aaC>aaT	p.N295N	CLPTM1_ENST00000546079.1_Silent_p.N193N|CLPTM1_ENST00000541297.2_Silent_p.N281N|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	295					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACCCCATCAACGAGAGCCTGG	0.582																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(841-843)aaC>aaT		cleft lip and palate associated transmembrane protein 1							119.0	124.0	122.0					19																	45490528		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490528C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.885C>T	19.37:g.45490528C>T						CLPTM1_ENST00000546079.1_Silent_p.N193N|CLPTM1_ENST00000337392.5_Silent_p.N295N|CLPTM1_ENST00000589158.1_3'UTR	p.N281N			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	1308	+		all_neural(266;0.224)|Ovarian(192;0.231)	295					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.843C>T	CCDS12651.1																																																																																				0.582	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		176	832	0	0	0	1	0	176	832				
TWF1	5756	broad.mit.edu	37	12	44191256	44191256	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44191256C>T	ENST00000395510.2	-	7	739		c.e7-1		TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000548315.1_Splice_Site|TWF1_ENST00000552521.1_Splice_Site	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1						barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TATCTATTTCCTGCCAATAAG	0.299																																						ENST00000395510.2																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.e7-1		twinfilin actin-binding protein 1							29.0	30.0	29.0					12																	44191256		2200	4294	6494	SO:0001630	splice_region_variant	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44191256C>T	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.610-1G>A	12.37:g.44191256C>T						TWF1_ENST00000552521.1_Splice_Site|TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000548315.1_Splice_Site		NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	7	739	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)						A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Splice_Site	SNP	ENST00000395510.2	37		CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005480	0.54254	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7243	0.91708	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TWF1	42477523	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	3.475000	0.53136	2.435000	0.82474	0.591000	0.81541	.		0.299	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	Intron	19	117	0	0	0	1	0	19	117				
DIXDC1	85458	broad.mit.edu	37	11	111866132	111866132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866132C>T	ENST00000440460.2	+	17	1827	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.S299S	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	511					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CACAGACCAGCGACCTGCAGC	0.527																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(1528-1530)agC>agT		DIX domain containing 1							58.0	60.0	59.0					11																	111866132		2112	4221	6333	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111866132C>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1530C>T	11.37:g.111866132C>T						DIXDC1_ENST00000315253.5_Silent_p.S299S|DIXDC1_ENST00000389821.4_3'UTR	p.S510S	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	17	1827	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	511					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000440460.2	37	c.1530C>T																																																																																					0.527	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		46	231	0	0	0	1	0	46	231				
NPAP1	23742	broad.mit.edu	37	15	24923233	24923233	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24923233C>A	ENST00000329468.2	+	1	2693	c.2219C>A	c.(2218-2220)gCc>gAc	p.A740D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	740					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGCAACACTGCCTCAGTCCAA	0.547																																						ENST00000329468.2																			0											c.(2218-2220)gCc>gAc		nuclear pore associated protein 1							108.0	110.0	109.0					15																	24923233		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923233C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2219C>A	15.37:g.24923233C>A	ENSP00000333735:p.Ala740Asp						p.A740D	NM_018958.2	NP_061831.2					1	2693	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2219C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.916930	0.33815	.	.	ENSG00000185823	ENST00000329468	T	0.07114	3.22	2.31	0.331	0.15933	.	0.631794	0.13178	N	0.407709	T	0.11665	0.0284	L	0.42245	1.32	0.09310	N	1	D	0.65815	0.995	P	0.55011	0.766	T	0.17899	-1.0354	10	0.44086	T	0.13	.	4.4867	0.11794	0.0:0.6493:0.0:0.3507	.	740	Q9NZP6	CO002_HUMAN	D	740	ENSP00000333735:A740D	ENSP00000333735:A740D	A	+	2	0	C15orf2	22474326	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.426000	0.07008	0.089000	0.17243	0.195000	0.17529	GCC		0.547	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		159	752	1	0	4.44197e-71	1	5.64539e-71	159	752				
T	6862	broad.mit.edu	37	6	166580185	166580185	+	Silent	SNP	G	G	A	rs201970663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166580185G>A	ENST00000296946.2	-	3	834	c.366C>T	c.(364-366)tgC>tgT	p.C122C	T_ENST00000366871.3_Silent_p.C122C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	122					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGATGTAGACGCAGCTGGGCG	0.652									Chordoma, Familial Clustering of				G|||	1	0.000199681	0.0008	0.0	5008	,	,		14908	0.0		0.0	False		,,,				2504	0.0					ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(364-366)tgC>tgT		T, brachyury homolog (mouse)							50.0	55.0	53.0					6																	166580185		2203	4300	6503	SO:0001819	synonymous_variant	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166580185G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.366C>T	6.37:g.166580185G>A						T_ENST00000366871.3_Silent_p.C122C	p.C122C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	3	834	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	122					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.366C>T	CCDS5290.1																																																																																				0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		38	617	0	0	0	1	0	38	617				
KIAA1549L	25758	broad.mit.edu	37	11	33612912	33612912	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33612912G>A	ENST00000321505.4	+	11	3985	c.3805G>A	c.(3805-3807)Gtc>Atc	p.V1269I	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1275I|KIAA1549L_ENST00000265654.5_Intron			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1269						integral component of membrane (GO:0016021)											GGAAAGAGACGTCGCTCAGGA	0.557																																						ENST00000321505.4																			0											c.(3805-3807)Gtc>Atc		KIAA1549-like							74.0	76.0	75.0					11																	33612912		2020	4171	6191	SO:0001583	missense	25758							g.chr11:33612912G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3805G>A	11.37:g.33612912G>A	ENSP00000315295:p.Val1269Ile					KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1275I	p.V1269I							11	3985	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3805G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064327	0.20067	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.6	-7.58	0.01313	.	1.331440	0.04385	N	0.361474	T	0.24314	0.0589	N	0.15975	0.35	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.21211	-1.0252	9	0.30854	T	0.27	-0.0386	12.2063	0.54355	0.7122:0.085:0.2028:0.0	.	1275	E9PAT2	.	I	1269;1275;1108	.	ENSP00000315295:V1269I	V	+	1	0	C11orf41	33569488	0.000000	0.05858	0.000000	0.03702	0.755000	0.42902	0.341000	0.19909	-1.089000	0.03073	-0.367000	0.07326	GTC		0.557	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		30	291	0	0	0	1	0	30	291				
CNTROB	116840	broad.mit.edu	37	17	7840525	7840525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7840525C>T	ENST00000563694.1	+	7	1797	c.872C>T	c.(871-873)gCc>gTc	p.A291V	CNTROB_ENST00000565740.1_Missense_Mutation_p.A291V|CNTROB_ENST00000380262.3_Missense_Mutation_p.A291V|CNTROB_ENST00000380255.3_Missense_Mutation_p.A291V	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	291					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCCATGGAGGCCCTGAATCGT	0.498																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(871-873)gCc>gTc		centrobin, centrosomal BRCA2 interacting protein							147.0	147.0	147.0					17																	7840525		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7840525C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.872C>T	17.37:g.7840525C>T	ENSP00000456335:p.Ala291Val					CNTROB_ENST00000565740.1_Missense_Mutation_p.A291V|CNTROB_ENST00000380255.3_Missense_Mutation_p.A291V|CNTROB_ENST00000563694.1_Missense_Mutation_p.A291V	p.A291V	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			7	1797	+		Prostate(122;0.173)	291					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.872C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282376	0.40394	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.64618	-0.11;0.8	5.81	5.81	0.92471	.	0.093058	0.45606	D	0.000343	T	0.68897	0.3051	L	0.29908	0.895	0.39465	D	0.967631	P;D;D;D	0.76494	0.775;0.999;0.999;0.999	B;D;D;D	0.83275	0.266;0.996;0.996;0.996	T	0.66420	-0.5928	10	0.30854	T	0.27	-13.9144	15.5789	0.76418	0.0:1.0:0.0:0.0	.	291;291;291;291	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	V	291	ENSP00000369614:A291V;ENSP00000369605:A291V	ENSP00000369605:A291V	A	+	2	0	CNTROB	7781250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	2.753000	0.94483	0.591000	0.81541	GCC		0.498	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		19	962	0	0	0	1	0	19	962				
FASN	2194	broad.mit.edu	37	17	80047259	80047259	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80047259G>A	ENST00000306749.2	-	13	2185	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	656	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AAACACCGGGGCCTGGACATC	0.637																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.e13-1		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						47.0	49.0	48.0					17																	80047259		2202	4298	6500	SO:0001630	splice_region_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80047259G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1966-1C>T	17.37:g.80047259G>A							p.A656_splice	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		13	2185	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		656			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	37	c.1965_splice	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442750	0.43326	.	.	ENSG00000169710	ENST00000306749	T	0.46063	0.88	3.61	2.62	0.31277	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.134441	0.48286	D	0.000182	T	0.40956	0.1138	M	0.71206	2.165	0.33081	D	0.536584	P	0.49559	0.925	P	0.45037	0.467	T	0.53422	-0.8441	10	0.31617	T	0.26	-17.289	7.0309	0.24967	0.0:0.1538:0.5935:0.2526	.	656	P49327	FAS_HUMAN	V	656	ENSP00000304592:A656V	ENSP00000304592:A656V	A	-	2	0	FASN	77640548	0.874000	0.30092	0.302000	0.25058	0.007000	0.05969	1.180000	0.32005	0.812000	0.34326	-0.467000	0.05162	GCC		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	Missense_Mutation	74	304	0	0	0	1	0	74	304				
FBXL17	64839	broad.mit.edu	37	5	107559841	107559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107559841C>T	ENST00000542267.1	-	5	2001	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	FBXL17_ENST00000359660.5_Missense_Mutation_p.G134E|FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	532										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTGAATGACTCCTTTAGAAGT	0.398																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1594-1596)gGa>gAa		F-box and leucine-rich repeat protein 17							116.0	107.0	110.0					5																	107559841		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107559841C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1595G>A	5.37:g.107559841C>T	ENSP00000437464:p.Gly532Glu					FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E|FBXL17_ENST00000359660.5_Missense_Mutation_p.G134E	p.G532E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	5	2001	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	532					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1595G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613456	0.87359	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.17213	2.29;4.3;2.29	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.41627	0.1167	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.16719	-1.0393	10	0.72032	D	0.01	.	19.3264	0.94264	0.0:1.0:0.0:0.0	.	532;134	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	E	134;532;134	ENSP00000352683:G134E;ENSP00000437464:G532E;ENSP00000418111:G134E	ENSP00000352683:G134E	G	-	2	0	FBXL17	107587740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.586000	0.87340	0.591000	0.81541	GGA		0.398	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				43	186	0	0	0	1	0	43	186				
SCARA3	51435	broad.mit.edu	37	8	27514340	27514340	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27514340A>G	ENST00000301904.3	+	4	288	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	90					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATCTCCTTGACCCAGTCTAT	0.468																																						ENST00000301904.3																			0				breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9						c.(268-270)Acc>Gcc		scavenger receptor class A, member 3							120.0	111.0	114.0					8																	27514340		2203	4300	6503	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27514340A>G	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.268A>G	8.37:g.27514340A>G	ENSP00000301904:p.Thr90Ala					SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	p.T90A	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	4	288	+		Ovarian(32;2.61e-05)	90					Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.268A>G	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	A	6.616	0.482141	0.12581	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.90444	2.63;-2.67	5.81	2.65	0.31530	.	0.369337	0.26119	N	0.026238	T	0.78534	0.4298	N	0.24115	0.695	0.22424	N	0.999119	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59500	-0.7443	10	0.17369	T	0.5	-11.845	2.8434	0.05536	0.3555:0.0:0.4459:0.1986	.	90;90	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	A	90	ENSP00000337985:T90A;ENSP00000301904:T90A	ENSP00000301904:T90A	T	+	1	0	SCARA3	27570259	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	1.245000	0.32790	0.788000	0.33755	-0.242000	0.12053	ACC		0.468	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		86	441	0	0	0	1	0	86	441				
PPP6R2	9701	broad.mit.edu	37	22	50853043	50853043	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50853043C>A	ENST00000216061.5	+	6	847	c.477C>A	c.(475-477)acC>acA	p.T159T	PPP6R2_ENST00000395741.3_Silent_p.T159T|PPP6R2_ENST00000359139.3_Silent_p.T159T|PPP6R2_ENST00000395744.3_Silent_p.T159T			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	159						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACATCGGCACCTCAGCGCTTA	0.607																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(475-477)acC>acA		protein phosphatase 6, regulatory subunit 2							111.0	96.0	101.0					22																	50853043		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50853043C>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.477C>A	22.37:g.50853043C>A						PPP6R2_ENST00000395741.3_Silent_p.T159T|PPP6R2_ENST00000216061.5_Silent_p.T159T|PPP6R2_ENST00000395744.3_Silent_p.T159T	p.T159T	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			5	871	+			159					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.477C>A																																																																																					0.607	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		48	306	1	0	7.88023e-25	1	9.02574e-25	48	306				
DCHS2	54798	broad.mit.edu	37	4	155254359	155254359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254359C>T	ENST00000357232.4	-	9	1503	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	502	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCGCACGTGCGAGGTACAAG	0.597																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1504-1506)Gca>Aca		dachsous cadherin-related 2							68.0	64.0	66.0					4																	155254359		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254359C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1504G>A	4.37:g.155254359C>T	ENSP00000349768:p.Ala502Thr					DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T	p.A502T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1503	-	all_hematologic(180;0.208)	Renal(120;0.0854)	502			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1504G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048405	0.75846	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.51817	0.69;0.69	5.6	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.198922	0.33005	N	0.005383	T	0.67002	0.2847	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66666	-0.5866	10	0.33141	T	0.24	.	14.2287	0.65877	0.0:0.9285:0.0:0.0715	.	1001;502	E9PC11;Q6V1P9	.;PCD23_HUMAN	T	502;1001;1001	ENSP00000349768:A502T;ENSP00000345062:A1001T	ENSP00000345062:A1001T	A	-	1	0	DCHS2	155473809	1.000000	0.71417	0.020000	0.16555	0.653000	0.38743	6.018000	0.70811	1.366000	0.46076	0.563000	0.77884	GCA		0.597	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		25	299	0	0	0	1	0	25	299				
ZNF665	79788	broad.mit.edu	37	19	53668078	53668078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668078C>T	ENST00000600412.1	-	2	1585	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.S555S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCAAGGTACGAATTGTGTC	0.388																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1468-1470)tcG>tcA		zinc finger protein 665							139.0	147.0	144.0					19																	53668078		2202	4299	6501	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668078C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1470G>A	19.37:g.53668078C>T						ZNF665_ENST00000396424.3_Silent_p.S555S	p.S490S			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1585	-			490					A8K5T8	Silent	SNP	ENST00000600412.1	37	c.1470G>A																																																																																					0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		110	470	0	0	0	1	0	110	470				
PRUNE2	158471	broad.mit.edu	37	9	79320790	79320790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320790G>A	ENST00000376718.3	-	8	6523	c.6400C>T	c.(6400-6402)Ctt>Ttt	p.L2134F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1775F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2134					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAGACAAAGCTCACTGGAT	0.488																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5323-5325)Ctt>Ttt		prune homolog 2 (Drosophila)							147.0	135.0	139.0					9																	79320790		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320790G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6400C>T	9.37:g.79320790G>A	ENSP00000365908:p.Leu2134Phe					PRUNE2_ENST00000376718.3_Missense_Mutation_p.L2134F	p.L1775F			Q8WUY3	PRUN2_HUMAN			8	6523	-			2134					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5323C>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.566|6.566	0.472728|0.472728	0.12461|0.12461	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.48836	.|0.81;0.8	5.88|5.88	0.462|0.462	0.16695|0.16695	.|.	.|1.215700	.|0.05871	.|N	.|0.624565	T|T	0.27765|0.27765	0.0683|0.0683	N|N	0.16903|0.16903	0.455|0.455	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.16719|0.16719	-1.0393|-1.0393	5|10	.|0.34782	.|T	.|0.22	0.4604|0.4604	1.4907|1.4907	0.02456|0.02456	0.2165:0.1181:0.3431:0.3223|0.2165:0.1181:0.3431:0.3223	.|.	.|2134	.|Q8WUY3	.|PRUN2_HUMAN	V|F	1455|2134;1775;2133	.|ENSP00000365908:L2134F;ENSP00000397425:L1775F	.|ENSP00000365908:L2134F	A|L	-|-	2|1	0|0	PRUNE2|PRUNE2	78510610|78510610	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.151000|0.151000	0.21798|0.21798	-0.644000|-0.644000	0.05415|0.05415	-0.156000|-0.156000	0.11079|0.11079	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		108	501	0	0	0	1	0	108	501				
ATN1	1822	broad.mit.edu	37	12	7045789	7045789	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045789C>A	ENST00000356654.4	+	5	1596	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	ATN1_ENST00000396684.2_Silent_p.A453A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	453					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCTCTTAGCCAACAGCAATG	0.622																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1357-1359)gcC>gcA		atrophin 1							157.0	157.0	157.0					12																	7045789		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045789C>A	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1359C>A	12.37:g.7045789C>A						ATN1_ENST00000396684.2_Silent_p.A453A	p.A453A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1596	+			453					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1359C>A	CCDS31734.1																																																																																				0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		264	1303	1	0	5.60598e-63	1	7.07121e-63	264	1303				
XKR6	286046	broad.mit.edu	37	8	10755726	10755726	+	Silent	SNP	G	G	A	rs183318725		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10755726G>A	ENST00000416569.2	-	3	1688	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	XKR6_ENST00000304437.2_Silent_p.L275L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	554						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGTCAGCCGTGAGATCCTCCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16685	0.001		0.0	False		,,,				2504	0.0					ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1660-1662)ctC>ctT		XK, Kell blood group complex subunit-related family, member 6							57.0	45.0	49.0					8																	10755726		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10755726G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1662C>T	8.37:g.10755726G>A						XKR6_ENST00000304437.2_Silent_p.L275L	p.L554L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1688	-			554					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1662C>T	CCDS5978.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.635	-0.074829	0.07184	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.61324	0.2338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58792	-0.7574	4	.	.	.	-7.9244	10.5583	0.45131	0.0878:0.0:0.9122:0.0	.	.	.	.	L	331	.	.	S	-	2	0	XKR6	10793136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.189000	0.42621	2.479000	0.83701	0.561000	0.74099	TCA		0.612	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		40	182	0	0	0	1	0	40	182				
RPL4	6124	broad.mit.edu	37	15	66793365	66793365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66793365C>T	ENST00000307961.6	-	7	847	c.755G>A	c.(754-756)tGg>tAg	p.W252*	SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|RPL4_ENST00000568588.1_Nonsense_Mutation_p.W158*|SNORD16_ENST00000362803.1_RNA|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	252					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						ACTTTCAGTCCAAATGCAGAA	0.403																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(754-756)tGg>tAg		ribosomal protein L4							66.0	64.0	65.0					15																	66793365		2201	4299	6500	SO:0001587	stop_gained	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66793365C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.755G>A	15.37:g.66793365C>T	ENSP00000311430:p.Trp252*					RPL4_ENST00000568588.1_Nonsense_Mutation_p.W158*	p.W252*	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			7	847	-			252					A8K502|P39029|Q4VBR0|Q969Z9	Nonsense_Mutation	SNP	ENST00000307961.6	37	c.755G>A	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	43	10.289014	0.99376	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9401	15.7932	0.78384	0.137:0.863:0.0:0.0	.	.	.	.	X	252	.	ENSP00000311430:W252X	W	-	2	0	RPL4	64580419	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.698000	0.84413	1.311000	0.45024	0.563000	0.77884	TGG		0.403	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		9	346	0	0	0	1	0	9	346				
PKP3	11187	broad.mit.edu	37	11	399008	399008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:399008C>T	ENST00000331563.2	+	5	1161	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	362					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCTTCAGGCCGTGCCTAGG	0.612																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1084-1086)gCc>gTc		plakophilin 3							96.0	83.0	88.0					11																	399008		2199	4292	6491	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:399008C>T	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1085C>T	11.37:g.399008C>T	ENSP00000331678:p.Ala362Val						p.A362V	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	1161	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	362					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.1085C>T	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.731141	0.48939	.	.	ENSG00000184363	ENST00000331563	T	0.70282	-0.47	3.99	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);	0.067408	0.64402	D	0.000018	T	0.74298	0.3698	N	0.25647	0.755	0.49130	D	0.999757	D	0.69078	0.997	D	0.65140	0.932	T	0.79347	-0.1841	10	0.87932	D	0	-9.5982	16.4754	0.84131	0.0:1.0:0.0:0.0	.	362	Q9Y446	PKP3_HUMAN	V	362	ENSP00000331678:A362V	ENSP00000331678:A362V	A	+	2	0	PKP3	389008	1.000000	0.71417	0.891000	0.34965	0.225000	0.24961	4.398000	0.59697	1.968000	0.57251	0.486000	0.48141	GCC		0.612	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		57	331	0	0	0	1	0	57	331				
TRIM51	84767	broad.mit.edu	37	11	55658776	55658776	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55658776T>C	ENST00000449290.2	+	7	1119	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R	TRIM51_ENST00000244891.3_Missense_Mutation_p.W200R	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	343	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAAATATTATTGGGAGGTTCA	0.433																																						ENST00000449290.2																			0											c.(1027-1029)Tgg>Cgg		tripartite motif-containing 51							81.0	87.0	85.0					11																	55658776		2100	4041	6141	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658776T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1027T>C	11.37:g.55658776T>C	ENSP00000395086:p.Trp343Arg					TRIM51_ENST00000244891.3_Missense_Mutation_p.W200R	p.W343R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1119	+			343			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1027T>C		.	.	.	.	.	.	.	.	.	.	.	14.67	2.603919	0.46423	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	D;D	0.86432	-2.12;-2.12	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.94460	0.8217	H	0.96691	3.865	0.24143	N	0.995722	D	0.89917	1.0	D	0.87578	0.998	D	0.84579	0.0660	9	0.87932	D	0	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	343	Q9BSJ1	SPRY5_HUMAN	R	343;200	ENSP00000395086:W343R;ENSP00000244891:W200R	ENSP00000244891:W200R	W	+	1	0	SPRYD5	55415352	1.000000	0.71417	0.077000	0.20336	0.407000	0.30961	3.040000	0.49799	0.540000	0.28808	0.136000	0.15936	TGG		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		110	544	0	0	0	1	0	110	544				
NLRC5	84166	broad.mit.edu	37	16	57060576	57060576	+	Missense_Mutation	SNP	G	G	A	rs368370938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57060576G>A	ENST00000262510.6	+	6	1946	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NLRC5_ENST00000436936.1_Missense_Mutation_p.R574H|NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H|NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	574					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCACCTGCCGCCCCTTCCTT	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19733	0.0		0.0	False		,,,				2504	0.0					ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(1720-1722)cGc>cAc		NLR family, CARD domain containing 5		G	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	59.0	54.0	56.0		1721	-3.6	0.0	16		56	0,8600		0,0,4300	no	missense	NLRC5	NM_032206.3	29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	574/1867	57060576	1,12995	2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060576G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1721G>A	16.37:g.57060576G>A	ENSP00000262510:p.Arg574His					NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H|NLRC5_ENST00000262510.6_Missense_Mutation_p.R574H|NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H	p.R574H			Q86WI3	NLRC5_HUMAN			6	1946	+		all_neural(199;0.225)	574					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1721G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098957	0.08681	2.27E-4	0.0	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.36	-3.61	0.04556	.	1.014940	0.07930	N	0.977276	T	0.74152	0.3679	L	0.39566	1.225	0.09310	N	1	B;B;B;B	0.23316	0.083;0.067;0.012;0.007	B;B;B;B	0.16289	0.01;0.015;0.009;0.006	T	0.58165	-0.7684	10	0.39692	T	0.17	.	5.0745	0.14625	0.4379:0.0:0.3413:0.2208	.	574;574;574;574	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	H	574;574;574;48;574;81	ENSP00000262510:R574H;ENSP00000308886:R574H;ENSP00000389739:R574H;ENSP00000441727:R574H;ENSP00000441597:R81H	ENSP00000262510:R574H	R	+	2	0	NLRC5	55618077	0.000000	0.05858	0.030000	0.17652	0.031000	0.12232	0.137000	0.15995	-0.473000	0.06871	-0.310000	0.09108	CGC		0.632	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		39	401	0	0	0	1	0	39	401				
PACSIN1	29993	broad.mit.edu	37	6	34497247	34497247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34497247G>T	ENST00000538621.1	+	5	775	c.530G>T	c.(529-531)aGc>aTc	p.S177I	PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	177	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GAGATGAACAGCAAGACGGAG	0.562																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(529-531)aGc>aTc		protein kinase C and casein kinase substrate in neurons 1							120.0	102.0	108.0					6																	34497247		2203	4300	6503	SO:0001583	missense	0				endocytosis		protein kinase activity	g.chr6:34497247G>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.530G>T	6.37:g.34497247G>T	ENSP00000439639:p.Ser177Ile					PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I|PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000486120.1_3'UTR	p.S177I	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			5	775	+			177					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.530G>T	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853724	0.51270	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.42513	0.97;2.54;0.97	3.83	3.83	0.44106	.	0.244310	0.43919	D	0.000517	T	0.32071	0.0817	M	0.69823	2.125	0.53005	D	0.999966	B	0.17852	0.024	B	0.16722	0.016	T	0.42699	-0.9436	10	0.62326	D	0.03	-11.3885	15.9069	0.79436	0.0:0.0:1.0:0.0	.	177	Q9BY11	PACN1_HUMAN	I	177;135;177;177	ENSP00000244458:S177I;ENSP00000363155:S135I;ENSP00000439639:S177I	ENSP00000244458:S177I	S	+	2	0	PACSIN1	34605225	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.590000	0.82653	2.127000	0.65507	0.557000	0.71058	AGC		0.562	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			24	285	1	0	1.64293e-13	1	1.77503e-13	24	285				
SEC31A	22872	broad.mit.edu	37	4	83793159	83793159	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793159C>T	ENST00000395310.2	-	7	902	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V|SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000432794.1_Silent_p.V240V|SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	240	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACATCTGGATCACTGGTAACC	0.468																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(718-720)gtG>gtA		SEC31 homolog A (S. cerevisiae)							123.0	94.0	104.0					4																	83793159		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83793159C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.720G>A	4.37:g.83793159C>T						SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000395310.2_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V	p.V240V			O94979	SC31A_HUMAN			7	883	-		Hepatocellular(203;0.114)	240			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.720G>A	CCDS3596.1																																																																																				0.468	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		59	202	0	0	0	1	0	59	202				
CABIN1	23523	broad.mit.edu	37	22	24509677	24509677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24509677C>T	ENST00000398319.2	+	27	4647	c.4262C>T	c.(4261-4263)gCg>gTg	p.A1421V	CABIN1_ENST00000405822.2_Missense_Mutation_p.A1342V|CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1421					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAGCAGGAGCGACGGGTAAA	0.507																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4261-4263)gCg>gTg		calcineurin binding protein 1							81.0	82.0	81.0					22																	24509677		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24509677C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4262C>T	22.37:g.24509677C>T	ENSP00000381364:p.Ala1421Val					CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1342V	p.A1421V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			27	4647	+			1421					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.4262C>T	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072617	0.08436	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.63580	0.17;-0.05;0.17	4.44	-7.85	0.01192	.	1.488080	0.03540	N	0.223755	T	0.35885	0.0947	N	0.14661	0.345	0.09310	N	1	B;B	0.23058	0.079;0.048	B;B	0.15870	0.014;0.006	T	0.41431	-0.9509	10	0.06236	T	0.91	.	9.8865	0.41264	0.0:0.1883:0.1182:0.6935	.	1342;1421	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	1421;1342;1421	ENSP00000263119:A1421V;ENSP00000384694:A1342V;ENSP00000381364:A1421V	ENSP00000263119:A1421V	A	+	2	0	CABIN1	22839677	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.152000	0.16302	-1.329000	0.02258	-1.867000	0.00556	GCG		0.507	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		85	458	0	0	0	1	0	85	458				
OPLAH	26873	broad.mit.edu	37	8	145114642	145114642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114642C>T	ENST00000426825.1	-	3	304	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	75					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGATGCTGGCGATATGACTG	0.687																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(223-225)Gcc>Acc		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						26.0	33.0	30.0					8																	145114642		2171	4254	6425	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145114642C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.223G>A	8.37:g.145114642C>T	ENSP00000475943:p.Ala75Thr					OPLAH_ENST00000534424.1_5'UTR	p.A75T	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	304	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		75					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.223G>A		.	.	.	.	.	.	.	.	.	.	C	12.15	1.850511	0.32699	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	5.24	0.73138	Hydantoinaseoxoprolinase, N-terminal (1);	0.111520	0.64402	D	0.000012	T	0.50137	0.1598	.	.	.	0.28467	N	0.915628	P	0.35192	0.489	B	0.31495	0.131	T	0.63129	-0.6706	7	0.48119	T	0.1	.	16.3018	0.82820	0.0:1.0:0.0:0.0	.	75	O14841	OPLA_HUMAN	T	75	.	ENSP00000412071:A75T	A	-	1	0	OPLAH	145186630	1.000000	0.71417	0.950000	0.38849	0.271000	0.26615	5.497000	0.66924	2.450000	0.82876	0.462000	0.41574	GCC		0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		35	148	0	0	0	1	0	35	148				
TXNDC2	84203	broad.mit.edu	37	18	9887884	9887884	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9887884C>T	ENST00000306084.6	+	2	1607	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	TXNDC2_ENST00000357775.5_Silent_p.L403L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	470	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CGGGGAGAGGCTGGTGGCTGT	0.572																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1408-1410)Ctg>Ttg		thioredoxin domain containing 2 (spermatozoa)							66.0	53.0	58.0					18																	9887884		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887884C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1408C>T	18.37:g.9887884C>T						TXNDC2_ENST00000357775.4_Silent_p.L403L|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR	p.L470L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1607	+			470			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1408C>T	CCDS42414.1																																																																																				0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			48	155	0	0	0	1	0	48	155				
C18orf54	162681	broad.mit.edu	37	18	51898889	51898889	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51898889A>G	ENST00000300091.5	+	6	1229	c.897A>G	c.(895-897)caA>caG	p.Q299Q	C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Silent_p.Q460Q|C18orf54_ENST00000578138.1_Silent_p.Q78Q	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	299						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CCCTGAAACAAATGTTATTTA	0.358																																						ENST00000300091.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(895-897)caA>caG		chromosome 18 open reading frame 54							120.0	112.0	115.0					18																	51898889		2203	4300	6503	SO:0001819	synonymous_variant	162681					extracellular region		g.chr18:51898889A>G	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.897A>G	18.37:g.51898889A>G						C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Silent_p.Q78Q|C18orf54_ENST00000382911.4_Silent_p.Q460Q	p.Q299Q	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	6	1229	+			299					I7HFJ6|Q6MZU3|Q6ZTL6	Silent	SNP	ENST00000300091.5	37	c.897A>G	CCDS11956.1																																																																																				0.358	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		21	464	0	0	0	1	0	21	464				
VCAN	1462	broad.mit.edu	37	5	82835411	82835411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82835411C>A	ENST00000265077.3	+	8	7154	c.6589C>A	c.(6589-6591)Cct>Act	p.P2197T	VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2197	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CACAACTCTCCCTGAAGCTAC	0.373																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(6589-6591)Cct>Act		versican							91.0	89.0	89.0					5																	82835411		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835411C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6589C>A	5.37:g.82835411C>A	ENSP00000265077:p.Pro2197Thr					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN-AS1_ENST00000512090.1_RNA	p.P2197T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7154	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2197			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.6589C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553069	0.45487	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84442	-1.83;-1.85;3.29	5.46	3.41	0.39046	.	0.454272	0.20652	N	0.088197	T	0.77824	0.4188	M	0.62723	1.935	0.09310	N	0.999999	P;B	0.34864	0.473;0.307	B;B	0.27887	0.084;0.051	T	0.70081	-0.4970	10	0.46703	T	0.11	.	5.0923	0.14715	0.2257:0.586:0.1064:0.0819	.	1210;2197	P13611-2;P13611	.;CSPG2_HUMAN	T	2197;1210;1210	ENSP00000265077:P2197T;ENSP00000340062:P1210T;ENSP00000426251:P1210T	ENSP00000265077:P2197T	P	+	1	0	VCAN	82871167	0.003000	0.15002	0.059000	0.19551	0.372000	0.29890	0.710000	0.25748	1.450000	0.47717	0.655000	0.94253	CCT		0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		86	478	1	0	8.45761e-33	1	1.00019e-32	86	478				
KIF1C	10749	broad.mit.edu	37	17	4905925	4905925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4905925G>A	ENST00000320785.5	+	7	953	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	199	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATGGACTGTGGAAATAAAGCA	0.592																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(595-597)gGa>gAa		kinesin family member 1C							111.0	102.0	105.0					17																	4905925		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4905925G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.596G>A	17.37:g.4905925G>A	ENSP00000320821:p.Gly199Glu						p.G199E	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			7	953	+			199			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.596G>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048994	0.93740	.	.	ENSG00000129250	ENST00000320785	D	0.83837	-1.77	5.43	5.43	0.79202	Kinesin, motor domain (4);	.	.	.	.	D	0.95114	0.8417	H	0.99117	4.435	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.96978	0.9713	9	0.87932	D	0	.	17.1003	0.86647	0.0:0.0:1.0:0.0	.	199	O43896	KIF1C_HUMAN	E	199	ENSP00000320821:G199E	ENSP00000320821:G199E	G	+	2	0	KIF1C	4846649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.890000	0.87313	2.727000	0.93392	0.561000	0.74099	GGA		0.592	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			60	618	0	0	0	1	0	60	618				
POLE2	5427	broad.mit.edu	37	14	50118009	50118009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50118009C>T	ENST00000216367.5	-	16	1397	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	POLE2_ENST00000539565.2_Missense_Mutation_p.S407N|POLE2_ENST00000554396.1_Missense_Mutation_p.S433N|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	433					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	AGCCAAATTGCTGCTAGGAAA	0.318																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(1219-1221)aGc>aAc		polymerase (DNA directed), epsilon 2, accessory subunit							75.0	76.0	76.0					14																	50118009		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50118009C>T	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1298G>A	14.37:g.50118009C>T	ENSP00000216367:p.Ser433Asn					POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.S433N|POLE2_ENST00000216367.5_Missense_Mutation_p.S433N	p.S407N	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			15	1438	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		433					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1220G>A	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450900	0.26074	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.30714	1.52;1.52;1.52	5.73	5.73	0.89815	DNA polymerase alpha/epsilon, subunit B (1);	0.152499	0.64402	D	0.000001	T	0.19525	0.0469	N	0.20685	0.6	0.36970	D	0.893758	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.14023	0.006;0.01;0.01	T	0.13495	-1.0507	10	0.25751	T	0.34	-14.4251	10.6341	0.45554	0.0:0.8577:0.0:0.1423	.	433;407;433	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	N	433;407;433	ENSP00000216367:S433N;ENSP00000446313:S407N;ENSP00000451621:S433N	ENSP00000216367:S433N	S	-	2	0	POLE2	49187759	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.097000	0.30988	2.861000	0.98227	0.655000	0.94253	AGC		0.318	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		45	150	0	0	0	1	0	45	150				
AVL9	23080	broad.mit.edu	37	7	32598658	32598658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32598658C>T	ENST00000318709.4	+	10	1018	c.797C>T	c.(796-798)aCt>aTt	p.T266I	AVL9_ENST00000409301.1_Missense_Mutation_p.T266I|AVL9_ENST00000404479.1_Missense_Mutation_p.T266I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	266					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTGCATCCACTGCTGATGTT	0.458																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(796-798)aCt>aTt		AVL9 homolog (S. cerevisiase)							89.0	84.0	86.0					7																	32598658		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598658C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.797C>T	7.37:g.32598658C>T	ENSP00000315568:p.Thr266Ile					AVL9_ENST00000409301.1_Missense_Mutation_p.T266I|AVL9_ENST00000404479.1_Missense_Mutation_p.T266I	p.T266I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			10	1018	+			266					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.797C>T	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	3.691	-0.063590	0.07273	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.46819	0.93;0.93;0.88;0.86	5.21	2.41	0.29592	.	0.540486	0.20014	N	0.101063	T	0.29556	0.0737	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.24317	0.101;0.009;0.011	B;B;B	0.21917	0.037;0.008;0.009	T	0.26087	-1.0113	10	0.56958	D	0.05	-17.5432	10.5606	0.45144	0.0:0.7882:0.0:0.2118	.	266;266;266	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	I	266;266;266;266;197	ENSP00000315568:T266I;ENSP00000387011:T266I;ENSP00000385242:T266I;ENSP00000395134:T197I	ENSP00000315568:T266I	T	+	2	0	AVL9	32565183	0.004000	0.15560	0.009000	0.14445	0.005000	0.04900	0.044000	0.13992	0.794000	0.33899	0.591000	0.81541	ACT		0.458	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		49	195	0	0	0	1	0	49	195				
SIPA1L2	57568	broad.mit.edu	37	1	232534934	232534934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232534934G>A	ENST00000366630.1	-	22	5466	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1703					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGAGCTGTCGCGGTCTGGGA	0.517																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(5107-5109)gCg>gTg		signal-induced proliferation-associated 1 like 2							124.0	124.0	124.0					1																	232534934		2091	4251	6342	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232534934G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.5108C>T	1.37:g.232534934G>A	ENSP00000355589:p.Ala1703Val					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V	p.A1703V			Q9P2F8	SI1L2_HUMAN			22	5466	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1703					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.5108C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585424	0.86748	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	D;D;T	0.88818	-2.43;-2.43;1.47	4.99	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.83953	2.67	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.95329	0.8428	10	0.87932	D	0	-32.8176	15.5869	0.76491	0.0:0.1381:0.8619:0.0	.	1703;759	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1703;1703;759	ENSP00000355589:A1703V;ENSP00000262861:A1703V;ENSP00000309102:A759V	ENSP00000262861:A1703V	A	-	2	0	SIPA1L2	230601557	1.000000	0.71417	0.082000	0.20525	0.806000	0.45545	9.653000	0.98506	1.319000	0.45190	0.460000	0.39030	GCG		0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		77	213	0	0	0	1	0	77	213				
TLK2	11011	broad.mit.edu	37	17	60685485	60685485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685485G>A	ENST00000326270.9	+	22	2389	c.2121G>A	c.(2119-2121)aaG>aaA	p.K707K	TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000346027.5_Silent_p.K685K|TLK2_ENST00000343388.7_Silent_p.K653K|TLK2_ENST00000582809.1_Silent_p.K536K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCCCGCCAAAGCCAGTAGTAA	0.418																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1606-1608)aaG>aaA		tousled-like kinase 2							73.0	74.0	74.0					17																	60685485		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60685485G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2121G>A	17.37:g.60685485G>A						TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000343388.7_Silent_p.K653K|TLK2_ENST00000346027.5_Silent_p.K685K|TLK2_ENST00000326270.9_Silent_p.K707K	p.K536K			Q86UE8	TLK2_HUMAN			22	2311	+			707			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1608G>A																																																																																					0.418	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		37	192	0	0	0	1	0	37	192				
TTLL1	25809	broad.mit.edu	37	22	43442432	43442432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442432C>T	ENST00000266254.7	-	10	1366	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Missense_Mutation_p.G347S	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	376					axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCGTAATTGCCGAGGACTTCC	0.498																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(1039-1041)Ggc>Agc		tubulin tyrosine ligase-like family, member 1							390.0	307.0	335.0					22																	43442432		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43442432C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1126G>A	22.37:g.43442432C>T	ENSP00000266254:p.Gly376Ser					TTLL1_ENST00000266254.7_Missense_Mutation_p.G376S|AL022476.2_ENST00000443063.1_RNA	p.G347S			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1279	-		Ovarian(80;0.0694)	376			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.1039G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210431	0.95069	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.11712	2.75;3.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.78049	2.395	0.80722	D	1	D;P	0.55385	0.971;0.952	P;P	0.52598	0.703;0.577	T	0.01545	-1.1328	10	0.54805	T	0.06	.	19.548	0.95307	0.0:1.0:0.0:0.0	.	347;376	O95922-4;O95922	.;TTLL1_HUMAN	S	347;376	ENSP00000333734:G347S;ENSP00000266254:G376S	ENSP00000266254:G376S	G	-	1	0	TTLL1	41772376	1.000000	0.71417	0.940000	0.37924	0.820000	0.46376	7.740000	0.84986	2.621000	0.88768	0.555000	0.69702	GGC		0.498	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		28	741	0	0	0	1	0	28	741				
OSBPL1A	114876	broad.mit.edu	37	18	21805159	21805159	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21805159G>T	ENST00000319481.3	-	17	1654	c.1448C>A	c.(1447-1449)tCc>tAc	p.S483Y	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	483					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTCGGACTCGGAATCTGTGGC	0.483																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1447-1449)tCc>tAc		oxysterol binding protein-like 1A							67.0	60.0	63.0					18																	21805159		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21805159G>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1448C>A	18.37:g.21805159G>T	ENSP00000320291:p.Ser483Tyr					OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y|OSBPL1A_ENST00000399443.3_5'UTR	p.S483Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			17	1654	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		483					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.1448C>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832775	0.71258	.	.	ENSG00000141447	ENST00000319481;ENST00000357041	T;T	0.49720	0.77;0.82	5.98	5.11	0.69529	.	.	.	.	.	T	0.65491	0.2696	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.971	D;P	0.64042	0.921;0.641	T	0.66685	-0.5861	9	0.41790	T	0.15	-18.226	15.6561	0.77136	0.0:0.1364:0.8636:0.0	.	483;483	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	483;101	ENSP00000320291:S483Y;ENSP00000349545:S101Y	ENSP00000320291:S483Y	S	-	2	0	OSBPL1A	20059157	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	6.355000	0.73041	1.518000	0.48934	0.655000	0.94253	TCC		0.483	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		46	236	1	0	5.2432e-18	1	5.80754e-18	46	236				
CD44	960	broad.mit.edu	37	11	35250775	35250775	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35250775A>T	ENST00000428726.2	+	18	2247	c.2124A>T	c.(2122-2124)gaA>gaT	p.E708D	CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000263398.6_Missense_Mutation_p.E327D|CD44_ENST00000278386.6_Missense_Mutation_p.N121Y|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	708					blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGTCTCAGGAAATGGTGCATT	0.498																																						ENST00000263398.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(979-981)gaA>gaT		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						182.0	170.0	174.0					11																	35250775		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35250775A>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.2124A>T	11.37:g.35250775A>T	ENSP00000398632:p.Glu708Asp					CD44_ENST00000278386.6_Missense_Mutation_p.N121Y|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000428726.2_Missense_Mutation_p.E708D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D|CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D	p.E327D	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		9	1415	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	708			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.981A>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.989376|3.989376	0.74589|0.74589	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000526669;ENST00000279452;ENST00000278385;ENST00000525469|ENST00000278386	T;T;T;T;T;T;T;T;T;T;T;T|T	0.56275|0.53423	1.47;1.41;1.64;1.37;1.88;1.54;1.46;1.21;1.02;1.6;0.82;0.47|0.62	5.93|5.93	0.878|0.878	0.19150|0.19150	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56804|0.56804	0.2010|0.2010	M|M	0.80847|0.80847	2.515|2.515	0.27384|0.27384	N|N	0.955334|0.955334	D;D;D;B;D;D|P	0.89917|0.51791	1.0;0.998;0.996;0.013;1.0;0.994|0.948	D;D;D;B;D;D|P	0.85130|0.50659	0.997;0.997;0.995;0.018;0.996;0.97|0.647	T|T	0.52533|0.52533	-0.8563|-0.8563	10|9	0.87932|0.87932	D|D	0|0	-13.3682|-13.3682	8.8766|8.8766	0.35350|0.35350	0.5752:0.0:0.4248:0.0|0.5752:0.0:0.4248:0.0	.|.	306;395;327;459;665;708|121	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070|O95370	.;.;.;.;.;CD44_HUMAN|.	D|Y	327;665;680;665;640;362;708;459;395;306;151;256;227;48|121	ENSP00000263398:E327D;ENSP00000389830:E665D;ENSP00000414567:E680D;ENSP00000391008:E665D;ENSP00000403990:E640D;ENSP00000353280:E362D;ENSP00000398632:E708D;ENSP00000392331:E459D;ENSP00000404447:E395D;ENSP00000309732:E306D;ENSP00000279452:E256D;ENSP00000278385:E227D|ENSP00000278386:N121Y	ENSP00000263398:E327D|ENSP00000278386:N121Y	E|N	+|+	3|1	2|0	CD44|CD44	35207351|35207351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	1.898000|1.898000	0.39809|0.39809	0.235000|0.235000	0.21160|0.21160	-0.250000|-0.250000	0.11733|0.11733	GAA|AAT		0.498	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		107	485	0	0	0	1	0	107	485				
PAX7	5081	broad.mit.edu	37	1	19018338	19018338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19018338C>T	ENST00000375375.3	+	5	1275	c.677C>T	c.(676-678)gCc>gTc	p.A226V	PAX7_ENST00000420770.2_Missense_Mutation_p.A226V|PAX7_ENST00000400661.3_Missense_Mutation_p.A224V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	226					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACATTCACGGCCGAGCAGCTG	0.637			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(676-678)gCc>gTc		paired box 7							43.0	37.0	39.0					1																	19018338		2202	4300	6502	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19018338C>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.677C>T	1.37:g.19018338C>T	ENSP00000364524:p.Ala226Val					PAX7_ENST00000400661.3_Missense_Mutation_p.A224V|PAX7_ENST00000375375.3_Missense_Mutation_p.A226V	p.A226V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	5	760	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	226					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.677C>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780423	0.70222	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95656	-3.77;-3.77;-3.77	4.98	4.07	0.47477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.112115	0.64402	D	0.000012	D	0.92922	0.7748	L	0.37897	1.145	0.80722	D	1	P;P;B	0.47762	0.571;0.9;0.151	P;P;B	0.45660	0.489;0.477;0.192	D	0.92496	0.6004	10	0.72032	D	0.01	.	12.0368	0.53429	0.0:0.9151:0.0:0.0849	.	226;224;226	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	226;226;224	ENSP00000364524:A226V;ENSP00000403389:A226V;ENSP00000383502:A224V	ENSP00000364524:A226V	A	+	2	0	PAX7	18890925	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.783000	0.85696	1.104000	0.41587	-0.136000	0.14681	GCC		0.637	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		15	109	0	0	0	1	0	15	109				
LEFTY2	7044	broad.mit.edu	37	1	226128787	226128787	+	Silent	SNP	G	G	A	rs370508860		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226128787G>A	ENST00000366820.5	-	1	402	c.54C>T	c.(52-54)ccC>ccT	p.P18P	LEFTY2_ENST00000420304.2_Silent_p.P18P|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	18					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCCGCCCCGGGGCCAGCCA	0.711																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(52-54)ccC>ccT		left-right determination factor 2		G	,	1,4325		0,1,2162	8.0	10.0	9.0		54,54	-9.9	0.0	1		9	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous	LEFTY2	NM_001172425.1,NM_003240.3	,	0,1,6396	AA,AG,GG		0.0,0.0231,0.0078	,	18/333,18/367	226128787	1,12793	2163	4234	6397	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226128787G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.54C>T	1.37:g.226128787G>A						LEFTY2_ENST00000420304.2_Silent_p.P18P	p.P18P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			1	402	-	Breast(184;0.197)		18					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.54C>T	CCDS1549.1																																																																																				0.711	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		34	84	0	0	0	1	0	34	84				
WDR55	54853	broad.mit.edu	37	5	140049193	140049193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140049193C>A	ENST00000358337.5	+	7	1343	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	369					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGACTCCATGGCTCAG	0.527																																						ENST00000358337.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(1105-1107)tCc>tAc		WD repeat domain 55							46.0	47.0	47.0					5																	140049193		2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140049193C>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1106C>A	5.37:g.140049193C>A	ENSP00000351100:p.Ser369Tyr					WDR55_ENST00000520764.1_3'UTR	p.S369Y	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1343	+			369					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.1106C>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	C	4.703	0.130747	0.08981	.	.	ENSG00000120314	ENST00000358337	T	0.30448	1.53	5.08	3.28	0.37604	.	2.952420	0.01434	U	0.014845	T	0.23926	0.0579	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.20140	-1.0284	10	0.62326	D	0.03	1.6088	5.5687	0.17184	0.2574:0.5876:0.0:0.155	.	369	Q9H6Y2	WDR55_HUMAN	Y	369	ENSP00000351100:S369Y	ENSP00000351100:S369Y	S	+	2	0	WDR55	140029377	0.000000	0.05858	0.031000	0.17742	0.426000	0.31534	1.067000	0.30616	1.124000	0.41980	-0.444000	0.05651	TCC		0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		23	120	1	0	1.12875e-08	1	1.18168e-08	23	120				
TBC1D15	64786	broad.mit.edu	37	12	72300817	72300817	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72300817G>A	ENST00000550746.1	+	12	1314	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	417	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGTTAACAGAACAGATCGA	0.318																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1249-1251)aGa>aAa		TBC1 domain family, member 15							154.0	135.0	142.0					12																	72300817		2201	4298	6499	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72300817G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1250G>A	12.37:g.72300817G>A	ENSP00000448182:p.Arg417Lys					TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K	p.R417K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			12	1314	+			417			Rab-GAP TBC.		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.1250G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263479	0.95399	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.19	5.19	0.71726	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.98466	4.24	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.80764	0.994;0.99;0.992	D	0.85054	0.0930	10	0.87932	D	0	-16.0406	18.7218	0.91698	0.0:0.0:1.0:0.0	.	408;400;417	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	417;408;400;171	ENSP00000448182:R417K;ENSP00000318262:R408K;ENSP00000420678:R400K;ENSP00000376986:R171K	ENSP00000318262:R408K	R	+	2	0	TBC1D15	70587084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.416000	0.81992	0.650000	0.86243	AGA		0.318	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		22	92	0	0	0	1	0	22	92				
SIGIRR	59307	broad.mit.edu	37	11	407518	407518	+	Missense_Mutation	SNP	G	G	A	rs200106219	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407518G>A	ENST00000431843.2	-	6	838	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	178	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGAACTTGCGGTCCTCGGGG	0.667																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(532-534)Cgc>Tgc		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							27.0	27.0	27.0					11																	407518		2188	4290	6478	SO:0001583	missense	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:407518G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.532C>T	11.37:g.407518G>A	ENSP00000403104:p.Arg178Cys					SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C|SIGIRR_ENST00000529486.1_5'UTR	p.R178C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	838	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	178			TIR.		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.532C>T	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.751638	0.49362	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000528209;ENST00000530494	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	2.75	1.81	0.25067	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.072087	0.56097	D	0.000036	T	0.25344	0.0616	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.01078	-1.1459	10	0.87932	D	0	.	9.1772	0.37118	0.0:0.0:0.6093:0.3907	.	178;178	C9JFX4;Q6IA17	.;SIGIR_HUMAN	C	178;178;178;178;178;74;122	ENSP00000403104:R178C;ENSP00000380756:R178C;ENSP00000333656:R178C;ENSP00000433022:R178C;ENSP00000371960:R178C;ENSP00000435135:R74C	ENSP00000333656:R178C	R	-	1	0	SIGIRR	397518	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.303000	0.33470	0.725000	0.32318	0.289000	0.19496	CGC		0.667	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		10	67	0	0	0	1	0	10	67				
GP5	2814	broad.mit.edu	37	3	194118876	194118876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118876G>T	ENST00000401815.1	-	1	207	c.136C>A	c.(136-138)Cta>Ata	p.L46I	GP5_ENST00000323007.3_Missense_Mutation_p.L46I			P40197	GPV_HUMAN	glycoprotein V (platelet)	46	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCAGGCCTAGCGCGGAGATG	0.697																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(136-138)Cta>Ata		glycoprotein V (platelet)							35.0	35.0	35.0					3																	194118876		2194	4284	6478	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118876G>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.136C>A	3.37:g.194118876G>T	ENSP00000383931:p.Leu46Ile					GP5_ENST00000323007.3_Missense_Mutation_p.L46I	p.L46I			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	207	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	46			LRRNT.		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.136C>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292667	0.40594	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.42131	0.98;0.98	4.72	2.91	0.33838	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.31495	N	0.007541	T	0.43299	0.1241	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.66084	0.941	T	0.18085	-1.0348	10	0.21014	T	0.42	.	8.376	0.32442	0.2441:0.0:0.7559:0.0	.	46	P40197	GPV_HUMAN	I	46	ENSP00000383931:L46I;ENSP00000319286:L46I	ENSP00000319286:L46I	L	-	1	2	GP5	195600165	0.002000	0.14202	0.099000	0.21106	0.162000	0.22319	0.483000	0.22292	1.290000	0.44636	0.561000	0.74099	CTA		0.697	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		69	351	1	0	6.8682e-38	1	8.26113e-38	69	351				
DUS3L	56931	broad.mit.edu	37	19	5789522	5789522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5789522C>T	ENST00000309061.7	-	3	692	c.596G>A	c.(595-597)cGc>cAc	p.R199H	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	199							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTGGGTCCCGCGGGCCGCCAA	0.716																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(595-597)cGc>cAc		dihydrouridine synthase 3-like (S. cerevisiae)							9.0	13.0	12.0					19																	5789522		2171	4259	6430	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5789522C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.596G>A	19.37:g.5789522C>T	ENSP00000311977:p.Arg199His					DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.R199H	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			3	692	-			199					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.596G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	4.977	0.181424	0.09495	.	.	ENSG00000141994	ENST00000309061	T	0.18174	2.23	3.46	-0.567	0.11763	.	0.476605	0.20383	N	0.093420	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27157	-1.0082	10	0.39692	T	0.17	-30.0716	6.8336	0.23923	0.0:0.3103:0.0:0.6897	.	199	Q96G46	DUS3L_HUMAN	H	199	ENSP00000311977:R199H	ENSP00000311977:R199H	R	-	2	0	DUS3L	5740522	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.723000	0.04952	-0.333000	0.08476	0.491000	0.48974	CGC		0.716	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		17	89	0	0	0	1	0	17	89				
MFAP2	4237	broad.mit.edu	37	1	17301766	17301766	+	Missense_Mutation	SNP	C	C	T	rs372325611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17301766C>T	ENST00000375535.3	-	8	735	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	149					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTTCCTACCTCGGAGGAGCTC	0.567																																						ENST00000375535.3																			0				kidney(1)|lung(1)	2						c.(445-447)cGa>cAa		microfibrillar-associated protein 2							96.0	74.0	81.0					1																	17301766		2203	4300	6503	SO:0001583	missense	4237					microfibril		g.chr1:17301766C>T	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.446G>A	1.37:g.17301766C>T	ENSP00000364685:p.Arg149Gln					MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR	p.R149Q			P55001	MFAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	8	735	-		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	149					Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	c.446G>A	CCDS174.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956411	0.92726	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	L	0.59436	1.845	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.75935	-0.3142	9	0.49607	T	0.09	-26.3955	14.0767	0.64893	0.0:1.0:0.0:0.0	.	148;149	Q5JXY0;P55001	.;MFAP2_HUMAN	Q	149;148;148	.	ENSP00000364684:R148Q	R	-	2	0	MFAP2	17174353	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.053000	0.57427	1.990000	0.58119	0.491000	0.48974	CGA		0.567	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403		26	157	0	0	0	1	0	26	157				
DMTF1	9988	broad.mit.edu	37	7	86823161	86823161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86823161G>A	ENST00000394703.5	+	18	2334	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I|TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000414194.2_Missense_Mutation_p.V325I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	591	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGAACTGACAGTCGATAGTGA	0.448																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(973-975)Gtc>Atc		cyclin D binding myb-like transcription factor 1							163.0	136.0	145.0					7																	86823161		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86823161G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1771G>A	7.37:g.86823161G>A	ENSP00000378193:p.Val591Ile					DMTF1_ENST00000394703.5_Missense_Mutation_p.V591I|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I|DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I	p.V325I			Q9Y222	DMTF1_HUMAN			16	2765	+	Esophageal squamous(14;0.0058)		591			HTH myb-type.|Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.973G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328568	0.60743	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.58358	0.48;0.34;0.5;0.48;0.49	6.03	5.16	0.70880	.	0.144170	0.44902	N	0.000409	T	0.40347	0.1113	L	0.27053	0.805	0.43118	D	0.994835	B	0.16603	0.018	B	0.13407	0.009	T	0.19289	-1.0310	10	0.27785	T	0.31	-0.0123	14.2613	0.66088	0.0706:0.0:0.9294:0.0	.	591	Q9Y222	DMTF1_HUMAN	I	591;521;503;591;325	ENSP00000332171:V591I;ENSP00000402627:V521I;ENSP00000412532:V503I;ENSP00000378193:V591I;ENSP00000415910:V325I	ENSP00000332171:V591I	V	+	1	0	DMTF1	86661097	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.060000	0.57477	1.558000	0.49541	0.655000	0.94253	GTC		0.448	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		93	445	0	0	0	1	0	93	445				
ACHE	43	broad.mit.edu	37	7	100491402	100491402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100491402C>A	ENST00000412389.1	-	1	607	c.452G>T	c.(451-453)gGg>gTg	p.G151V	ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V|ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V|ACHE_ENST00000302913.4_Missense_Mutation_p.G151V			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	151					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GAAGCCACCCCCATAGATCCA	0.612																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(451-453)gGg>gTg		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						79.0	82.0	81.0					7																	100491402		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491402C>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.452G>T	7.37:g.100491402C>A	ENSP00000394976:p.Gly151Val					ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000412389.1_Missense_Mutation_p.G151V|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V|ACHE_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V	p.G151V	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	590	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		151					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.452G>T	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079176	0.76528	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	D;D;D;D;D;D;D;D;D	0.86097	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-2.07	5.45	4.56	0.56223	Carboxylesterase, type B (1);	0.050345	0.85682	D	0.000000	D	0.95114	0.8417	H	0.98487	4.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95826	0.8854	10	0.87932	D	0	.	11.8685	0.52507	0.0:0.9137:0.0:0.0863	.	151;151;151;151	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	V	151	ENSP00000403474:G151V;ENSP00000241069:G151V;ENSP00000414858:G151V;ENSP00000303211:G151V;ENSP00000394976:G151V;ENSP00000397143:G151V;ENSP00000399725:G151V;ENSP00000404865:G151V;ENSP00000396360:G151V	ENSP00000241069:G151V	G	-	2	0	ACHE	100329338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.560000	0.82277	1.274000	0.44362	0.561000	0.74099	GGG		0.612	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		124	468	1	0	3.79751e-50	1	4.70383e-50	124	468				
SH3PXD2B	285590	broad.mit.edu	37	5	171821594	171821594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171821594G>A	ENST00000311601.5	-	4	452	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SH3PXD2B_ENST00000519643.1_Silent_p.R94R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	94	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGGTATCAGGCGTTTGACAG	0.468																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(280-282)cgC>cgT		SH3 and PX domains 2B							100.0	93.0	95.0					5																	171821594		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171821594G>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.282C>T	5.37:g.171821594G>A						SH3PXD2B_ENST00000519643.1_Silent_p.R94R	p.R94R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	452	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	94			PX.		B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.282C>T	CCDS34291.1																																																																																				0.468	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		21	136	0	0	0	1	0	21	136				
ZBTB20	26137	broad.mit.edu	37	3	114069698	114069698	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069698G>A	ENST00000474710.1	-	4	1405	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20_ENST00000462705.1_Silent_p.P336P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.P336P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	409						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGCCTGCTCGGGTTGGGTGG	0.637																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1006-1008)ccC>ccT		zinc finger and BTB domain containing 20							47.0	51.0	50.0					3																	114069698		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069698G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1227C>T	3.37:g.114069698G>A						ZBTB20_ENST00000357258.3_Silent_p.P336P|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20_ENST00000474710.1_Silent_p.P409P|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000464560.1_Silent_p.P336P	p.P336P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1829	-			409					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1008C>T	CCDS54626.1																																																																																				0.637	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		88	413	0	0	0	1	0	88	413				
CAD	790	broad.mit.edu	37	2	27449826	27449826	+	Silent	SNP	C	C	T	rs542135109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27449826C>T	ENST00000403525.1	+	14	2238	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	CAD_ENST00000264705.4_Silent_p.S761S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGAAGAGCGTTGGTGAGA	0.527																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2281-2283)agC>agT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						94.0	94.0	94.0					2																	27449826		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449826C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2094C>T	2.37:g.27449826C>T						CAD_ENST00000403525.1_Silent_p.S698S	p.S761S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			15	2445	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		761			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2283C>T																																																																																					0.527	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			83	483	0	0	0	1	0	83	483				
NRK	203447	broad.mit.edu	37	X	105189929	105189929	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105189929A>G	ENST00000243300.9	+	25	4428	c.4125A>G	c.(4123-4125)atA>atG	p.I1375M	NRK_ENST00000540278.1_5'Flank|NRK_ENST00000428173.2_Missense_Mutation_p.I1376M	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1375	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATATACGAATACTGGCAAAAA	0.443										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(4126-4128)atA>atG		Nik related kinase							101.0	88.0	92.0					X																	105189929		1880	4113	5993	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105189929A>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4125A>G	X.37:g.105189929A>G	ENSP00000434830:p.Ile1375Met	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.I1375M	p.I1376M			Q7Z2Y5	NRK_HUMAN			25	4431	+			1375			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4128A>G		.	.	.	.	.	.	.	.	.	.	A	15.06	2.721956	0.48728	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79141	-1.23;-1.24	4.33	3.14	0.36123	Citron-like (2);	0.000000	0.56097	D	0.000036	T	0.72309	0.3444	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72940	-0.4139	10	0.72032	D	0.01	.	6.1494	0.20303	0.7716:0.0:0.0:0.2284	.	1375	Q7Z2Y5	NRK_HUMAN	M	1375;1376	ENSP00000434830:I1375M;ENSP00000438378:I1376M	ENSP00000434830:I1375M	I	+	3	3	NRK	105076585	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.184000	0.42575	0.749000	0.32854	0.486000	0.48141	ATA		0.443	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		41	117	0	0	0	1	0	41	117				
CYP2C18	1562	broad.mit.edu	37	10	96493196	96493196	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96493196G>A	ENST00000285979.6	+	8	1490		c.e8+1		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTCTCAGCAGGTAATAGATAT	0.438																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.e8+1		cytochrome P450, family 2, subfamily C, polypeptide 18							127.0	114.0	119.0					10																	96493196		2203	4300	6503	SO:0001630	splice_region_variant	1562							g.chr10:96493196G>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1291+1G>A	10.37:g.96493196G>A						CYP2C18_ENST00000339022.5_Splice_Site|CYP2C19_ENST00000464755.1_Splice_Site		NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	8	1490	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Splice_Site	SNP	ENST00000285979.6	37		CCDS7435.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405243	0.25378	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.05	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3368	0.38056	0.1076:0.0:0.8924:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2C18	96483186	1.000000	0.71417	0.995000	0.50966	0.163000	0.22366	8.335000	0.90031	0.886000	0.36113	0.455000	0.32223	.		0.438	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	Intron	110	383	0	0	0	1	0	110	383				
SLC35E4	339665	broad.mit.edu	37	22	31032960	31032960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31032960G>A	ENST00000343605.4	+	1	1322	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T|SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	175	EamA.|Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCTGGGGGCCGCCTGCAGCCT	0.682																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(523-525)Gcc>Acc		solute carrier family 35, member E4							22.0	22.0	22.0					22																	31032960		2202	4298	6500	SO:0001583	missense	339665					integral to membrane		g.chr22:31032960G>A		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.523G>A	22.37:g.31032960G>A	ENSP00000339626:p.Ala175Thr					SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T|SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T	p.A175T	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			1	1322	+			175			DUF6.|Leu-rich.		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.523G>A	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412306	0.83340	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.16	5.16	0.70880	Drug/metabolite transporter (1);	0.115704	0.64402	D	0.000015	T	0.52581	0.1743	L	0.38175	1.15	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.59056	0.851;0.637	T	0.50524	-0.8818	10	0.44086	T	0.13	-13.2384	12.5429	0.56182	0.0:0.0:0.8333:0.1666	.	175;175	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	T	175;175;175;151	ENSP00000339626:A175T;ENSP00000300385:A175T;ENSP00000384377:A175T;ENSP00000413552:A151T	ENSP00000300385:A175T	A	+	1	0	SLC35E4	29362960	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.155000	0.58131	2.406000	0.81754	0.549000	0.68633	GCC		0.682	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		32	172	0	0	0	1	0	32	172				
SAMD3	154075	broad.mit.edu	37	6	130505263	130505263	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130505263C>T	ENST00000368134.2	-	9	1247	c.639G>A	c.(637-639)gaG>gaA	p.E213E	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000532763.1_Silent_p.E211E|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	213										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACAGCCATCCTCATCCAGGA	0.468																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(631-633)gaG>gaA		sterile alpha motif domain containing 3							102.0	86.0	92.0					6																	130505263		2203	4300	6503	SO:0001819	synonymous_variant	154075							g.chr6:130505263C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.639G>A	6.37:g.130505263C>T						SAMD3_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000368134.2_Silent_p.E213E	p.E211E			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	6	762	-			213					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.633G>A	CCDS34539.1																																																																																				0.468	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		25	161	0	0	0	1	0	25	161				
ZNF764	92595	broad.mit.edu	37	16	30567369	30567369	+	Missense_Mutation	SNP	C	C	T	rs538592097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567369C>T	ENST00000252797.2	-	3	453	c.373G>A	c.(373-375)Gac>Aac	p.D125N	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.D124N	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCACAGGGTCGGGCTTCTCC	0.622																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(370-372)Gac>Aac		zinc finger protein 764							45.0	52.0	50.0					16																	30567369		2196	4300	6496	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567369C>T	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.373G>A	16.37:g.30567369C>T	ENSP00000252797:p.Asp125Asn					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.D125N	p.D124N			Q96H86	ZN764_HUMAN			3	685	-			125					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.370G>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669192	0.14776	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.05855	3.4;3.38	4.18	1.06	0.20224	.	0.992446	0.08162	N	0.988372	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B	0.29671	0.254;0.0	B;B	0.17979	0.02;0.0	T	0.46992	-0.9151	10	0.22109	T	0.4	-0.8577	4.71	0.12868	0.199:0.1833:0.6177:0.0	.	124;125	B3KSN2;Q96H86	.;ZN764_HUMAN	N	125;124	ENSP00000252797:D125N;ENSP00000378526:D124N	ENSP00000252797:D125N	D	-	1	0	ZNF764	30474870	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.285000	0.22329	-0.256000	0.11100	GAC		0.622	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		90	372	0	0	0	1	0	90	372				
KLF4	9314	broad.mit.edu	37	9	110248208	110248208	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110248208C>A	ENST00000374672.4	-	5	1738		c.e5-1			NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)						cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|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)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGTTTCTCACCTGTAAAGGTA	0.463																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.e5-1		Kruppel-like factor 4 (gut)							59.0	57.0	58.0					9																	110248208		2203	4300	6503	SO:0001630	splice_region_variant	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110248208C>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1265-1G>T	9.37:g.110248208C>A								NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			5	1738	-								B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Splice_Site	SNP	ENST00000374672.4	37		CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708696	0.48517	.	.	ENSG00000136826	ENST00000374672	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLF4	109288029	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	7.818000	0.86416	2.536000	0.85505	0.462000	0.41574	.		0.463	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235	Intron	65	263	1	0	3.63617e-18	1	4.02878e-18	65	263				
GABARAPL1	23710	broad.mit.edu	37	12	10374440	10374440	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10374440T>C	ENST00000266458.5	+	4	668	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	GABARAPL1_ENST00000546017.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	115		Cleavage; by RavZ.			autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|dendrite cytoplasm (GO:0032839)|dendrite membrane (GO:0032590)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|microtubule (GO:0005874)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			NS(1)|lung(1)	2						TGAGAGTGTCTATGGGAAATG	0.498																																					Melanoma(3;46 76 4652 22680 42285)	ENST00000546017.1																			0				NS(1)|lung(1)	2						c.(73-75)Tat>Cat		GABA(A) receptor-associated protein like 1							107.0	99.0	101.0					12																	10374440		2203	4300	6503	SO:0001583	missense	23710					autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding	g.chr12:10374440T>C	AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112			4068	protein-coding gene	gene with protein product		607420				11414770, 11374880	Standard	NM_031412		Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000266458.5:c.343T>C	12.37:g.10374440T>C	ENSP00000266458:p.Tyr115His					GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000266458.5_Missense_Mutation_p.Y115H	p.Y25H			Q9H0R8	GBRL1_HUMAN			4	1012	+			115					B4E0Y7|Q6FIE6	Missense_Mutation	SNP	ENST00000266458.5	37	c.73T>C	CCDS8620.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622355	0.46840	.	.	ENSG00000139112	ENST00000266458;ENST00000544284;ENST00000545887;ENST00000546017;ENST00000535576;ENST00000539170	T;T;T;T;T;T	0.50813	0.79;0.73;0.79;0.73;0.73;0.73	5.43	5.43	0.79202	.	0.085531	0.50627	N	0.000110	T	0.60637	0.2284	M	0.86573	2.825	0.31322	N	0.685925	B	0.15719	0.014	B	0.34931	0.192	T	0.67948	-0.5538	10	0.87932	D	0	.	13.4361	0.61084	0.0:0.0:0.0:1.0	.	115	Q9H0R8	GBRL1_HUMAN	H	115;25;115;25;25;25	ENSP00000266458:Y115H;ENSP00000439734:Y25H;ENSP00000444186:Y115H;ENSP00000446456:Y25H;ENSP00000444738:Y25H;ENSP00000444209:Y25H	ENSP00000266458:Y115H	Y	+	1	0	GABARAPL1	10265707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.060000	0.61445	0.533000	0.62120	TAT		0.498	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399651.1			45	174	0	0	0	1	0	45	174				
FAM83B	222584	broad.mit.edu	37	6	54735119	54735119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54735119G>T	ENST00000306858.7	+	2	191	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	25								p.K25N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCACTACAAGGAATGGTATC	0.423																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.K25N(1)	kidney(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(73-75)aaG>aaT		family with sequence similarity 83, member B							142.0	128.0	133.0					6																	54735119		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735119G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.75G>T	6.37:g.54735119G>T	ENSP00000304078:p.Lys25Asn						p.K25N	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	191	+	Lung NSC(77;0.0178)|Renal(3;0.122)		25					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.75G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035781	0.54896	.	.	ENSG00000168143	ENST00000306858	T	0.11063	2.81	5.08	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	N	0.26092	0.79	0.49051	D	0.99974	D	0.89917	1.0	D	0.83275	0.996	T	0.07966	-1.0745	10	0.46703	T	0.11	-29.8232	9.8932	0.41302	0.1563:0.0:0.8437:0.0	.	25	Q5T0W9	FA83B_HUMAN	N	25	ENSP00000304078:K25N	ENSP00000304078:K25N	K	+	3	2	FAM83B	54843078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.459000	0.35234	1.273000	0.44346	0.467000	0.42956	AAG		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		123	448	1	0	1.04646e-50	1	1.29704e-50	123	448				
BANP	54971	broad.mit.edu	37	16	88066767	88066767	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88066767G>A	ENST00000393207.1	+	9	1313	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	BANP_ENST00000393208.2_Silent_p.P333P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000286122.7_Silent_p.P364P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	364	DNA-binding. {ECO:0000250}.|Gln-rich.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCCACAGCCGCAGCCGCAGG	0.627																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1090-1092)ccG>ccA		BTG3 associated nuclear protein							27.0	23.0	25.0					16																	88066767		2198	4299	6497	SO:0001819	synonymous_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88066767G>A	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1092G>A	16.37:g.88066767G>A						BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000286122.7_Silent_p.P364P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000393208.2_Silent_p.P333P	p.P364P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	9	1313	+			364			DNA-binding (By similarity).|Gln-rich.		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	c.1092G>A	CCDS54054.1																																																																																				0.627	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		10	199	0	0	0	1	0	10	199				
TTC7B	145567	broad.mit.edu	37	14	91044542	91044542	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91044542C>A	ENST00000328459.6	-	19	2339	c.2218G>T	c.(2218-2220)Gct>Tct	p.A740S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.A757S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	740										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CGGAGCTCAGCAATCTGGCCG	0.602																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(2269-2271)Gct>Tct		tetratricopeptide repeat domain 7B							102.0	86.0	91.0					14																	91044542		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91044542C>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2218G>T	14.37:g.91044542C>A	ENSP00000336127:p.Ala740Ser					TTC7B_ENST00000328459.6_Missense_Mutation_p.A740S|TTC7B_ENST00000554654.1_5'UTR	p.A757S			Q86TV6	TTC7B_HUMAN			20	2390	-		Melanoma(154;0.222)	740					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.2269G>T	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.383|9.383	1.073633|1.073633	0.20147|0.20147	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972|ENST00000557292	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.48|5.48	3.44|3.44	0.39384|0.39384	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);|.	0.184815|.	0.46758|.	D|.	0.000263|.	T|T	0.68421|0.68421	0.2999|0.2999	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.17268|.	0.021;0.0|.	B;B|.	0.19666|.	0.026;0.004|.	T|T	0.67577|0.67577	-0.5635|-0.5635	10|5	0.22109|.	T|.	0.4|.	-2.2328|-2.2328	12.6405|12.6405	0.56707|0.56707	0.155:0.7368:0.1082:0.0|0.155:0.7368:0.1082:0.0	.|.	740;757|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	S|F	638;757;740;227|167	ENSP00000349564:A757S;ENSP00000336127:A740S;ENSP00000451440:A227S|.	ENSP00000336127:A740S|.	A|C	-|-	1|2	0|0	TTC7B|TTC7B	90114295|90114295	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.177000|0.177000	0.22998|0.22998	4.822000|4.822000	0.62686|0.62686	1.273000|1.273000	0.44346|0.44346	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.602	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			33	121	1	0	2.81731e-10	1	2.98404e-10	33	121				
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49371699C>A	ENST00000374201.3	-	28	3855	c.3553G>T	c.(3553-3555)Gct>Tct	p.A1185S	FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458																																						ENST00000374201.3																			1	Substitution - Missense(1)	p.A1185T(1)	lung(1)	NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(3553-3555)Gct>Tct		FERM and PDZ domain containing 2							104.0	112.0	109.0					10																	49371699		2189	4297	6486	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49371699C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3553G>T	10.37:g.49371699C>A	ENSP00000363317:p.Ala1185Ser					FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S|FRMPD2_ENST00000463706.1_5'UTR	p.A1185S	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	28	3855	-			1185					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.3553G>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674182	0.00758	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	T;T;T;T	0.61742	3.65;0.14;0.08;0.08	3.75	-0.861	0.10676	.	.	.	.	.	T	0.30324	0.0761	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.13145	0.004;0.007;0.001;0.007;0.007	B;B;B;B;B	0.14578	0.01;0.011;0.001;0.011;0.01	T	0.15009	-1.0452	9	0.20519	T	0.43	.	1.0555	0.01589	0.1527:0.3824:0.2338:0.2311	.	137;1160;1185;1153;196	Q68DX3-5;Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;.;FRPD2_HUMAN;.;.	S	137;1185;1160;1153	ENSP00000422446:A137S;ENSP00000363317:A1185S;ENSP00000307079:A1160S;ENSP00000384339:A1153S	ENSP00000307079:A1160S	A	-	1	0	FRMPD2	49041705	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.174000	0.09839	-0.044000	0.13491	-0.347000	0.07816	GCT		0.458	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		110	584	1	0	6.33484e-38	1	7.62105e-38	110	584				
FST	10468	broad.mit.edu	37	5	52779404	52779404	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52779404C>T	ENST00000256759.3	+	3	731	c.348C>T	c.(346-348)tgC>tgT	p.C116C	FST_ENST00000396947.3_Silent_p.C116C	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	116	Follistatin-like 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AACCCCGCTGCGTCTGCGCCC	0.502																																						ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(346-348)tgC>tgT		follistatin							73.0	72.0	72.0					5																	52779404		2203	4300	6503	SO:0001819	synonymous_variant	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52779404C>T	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.348C>T	5.37:g.52779404C>T						FST_ENST00000256759.3_Silent_p.C116C	p.C116C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			3	514	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	116			Follistatin-like 1.|Kazal-like 1.		B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	c.348C>T	CCDS3959.1																																																																																				0.502	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		47	204	0	0	0	1	0	47	204				
CDHR3	222256	broad.mit.edu	37	7	105660870	105660870	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105660870A>G	ENST00000317716.9	+	13	1785	c.1705A>G	c.(1705-1707)Aac>Gac	p.N569D	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.N569D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTGTACTCCAAACTCTTATTT	0.408																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(1705-1707)Aac>Gac		cadherin-related family member 3							85.0	76.0	79.0					7																	105660870		1856	4106	5962	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105660870A>G	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1705A>G	7.37:g.105660870A>G	ENSP00000325954:p.Asn569Asp					CDHR3_ENST00000317716.9_Missense_Mutation_p.N569D|CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron	p.N569D			Q6ZTQ4	CDHR3_HUMAN			13	1813	+			569			Cadherin 6.		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.1705A>G	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859843	0.32884	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.58652	0.32;0.32;1.2	5.55	0.184	0.15086	Cadherin (2);Cadherin-like (1);	0.653907	0.15506	N	0.258791	T	0.40570	0.1122	L	0.42245	1.32	0.80722	D	1	B;B	0.15141	0.006;0.012	B;B	0.11329	0.003;0.006	T	0.14980	-1.0453	10	0.10111	T	0.7	-11.2539	6.4987	0.22155	0.573:0.2928:0.1342:0.0	.	556;569	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	D	569;569;481	ENSP00000439766:N569D;ENSP00000325954:N569D;ENSP00000417771:N481D	ENSP00000325954:N569D	N	+	1	0	CDHR3	105448106	0.035000	0.19736	0.416000	0.26546	0.757000	0.42996	1.294000	0.33365	-0.213000	0.10094	-0.316000	0.08728	AAC		0.408	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		33	157	0	0	0	1	0	33	157				
SRCAP	10847	broad.mit.edu	37	16	30750367	30750367	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30750367A>G	ENST00000262518.4	+	34	9391	c.9006A>G	c.(9004-9006)ccA>ccG	p.P3002P	SRCAP_ENST00000395059.2_Silent_p.P2940P|SRCAP_ENST00000344771.4_Silent_p.P2844P|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3002	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAACGTCCCCACCCAAACGGA	0.592																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(9004-9006)ccA>ccG		Snf2-related CREBBP activator protein							146.0	115.0	126.0					16																	30750367		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750367A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9006A>G	16.37:g.30750367A>G						SRCAP_ENST00000395059.2_Silent_p.P2940P|SRCAP_ENST00000344771.4_Silent_p.P2844P	p.P3002P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9391	+			3002			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.9006A>G	CCDS10689.2																																																																																				0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		49	316	0	0	0	1	0	49	316				
NKAPL	222698	broad.mit.edu	37	6	28228254	28228254	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28228254C>A	ENST00000343684.3	+	1	1157	c.1105C>A	c.(1105-1107)Ctt>Att	p.L369I	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	369										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAGAGAGCTCTTGCATCCTT	0.443																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1105-1107)Ctt>Att		NFKB activating protein-like							154.0	142.0	146.0					6																	28228254		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28228254C>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1105C>A	6.37:g.28228254C>A	ENSP00000345716:p.Leu369Ile						p.L369I	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	1157	+			369					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.1105C>A	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645815	0.87958	.	.	ENSG00000189134	ENST00000343684	T	0.23754	1.89	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33189	-0.9878	10	0.59425	D	0.04	-9.0374	15.3886	0.74723	0.0:1.0:0.0:0.0	.	369	Q5M9Q1	NKAPL_HUMAN	I	369	ENSP00000345716:L369I	ENSP00000345716:L369I	L	+	1	0	NKAPL	28336233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.478000	0.81082	2.563000	0.86464	0.655000	0.94253	CTT		0.443	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			78	344	1	0	5.04879e-28	1	5.86081e-28	78	344				
OR51V1	283111	broad.mit.edu	37	11	5221587	5221587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221587C>T	ENST00000321255.1	-	1	343	c.344G>A	c.(343-345)gGt>gAt	p.G115D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	115					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGACAGACCATGGATGAA	0.502																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(343-345)gGt>gAt		olfactory receptor, family 51, subfamily V, member 1							59.0	58.0	58.0					11																	5221587		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221587C>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.344G>A	11.37:g.5221587C>T	ENSP00000321729:p.Gly115Asp						p.G115D	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	343	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	115						Missense_Mutation	SNP	ENST00000321255.1	37	c.344G>A	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888099	0.52014	.	.	ENSG00000176742	ENST00000321255	T	0.02709	4.19	5.48	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.141905	0.32134	N	0.006537	T	0.10637	0.0260	M	0.81497	2.545	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.18777	-1.0326	10	0.35671	T	0.21	.	2.7779	0.05352	0.1462:0.5646:0.1419:0.1473	.	115	Q9H2C8	O51V1_HUMAN	D	115	ENSP00000321729:G115D	ENSP00000321729:G115D	G	-	2	0	OR51V1	5178163	0.000000	0.05858	0.153000	0.22517	0.985000	0.73830	0.025000	0.13577	0.881000	0.35993	0.650000	0.86243	GGT		0.502	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		41	201	0	0	0	1	0	41	201				
PI4KAP2	375133	broad.mit.edu	37	22	21829583	21829583	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21829583G>T	ENST00000450651.1	-	0	1755							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						CCACATCCATGTAGGGCCTGG	0.602																																						ENST00000450651.1																			0				endometrium(3)|urinary_tract(1)	4															22.0	20.0	20.0					22																	21829583		692	1583	2275			0							g.chr22:21829583G>T			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21829583G>T														0	1755	-								Q6ICJ0|Q6ZT68|Q8WUK7	RNA	SNP	ENST00000450651.1	37																																																																																						0.602	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1			5	85	1	0	1.23904e-05	1	1.26975e-05	5	85				
SPTBN5	51332	broad.mit.edu	37	15	42166183	42166183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42166183G>A	ENST00000320955.6	-	25	4977	c.4750C>T	c.(4750-4752)Cgg>Tgg	p.R1584W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1584					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCAGGCTCCGCCCAGAACTC	0.632																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(4750-4752)Cgg>Tgg		spectrin, beta, non-erythrocytic 5							28.0	33.0	32.0					15																	42166183		2027	4200	6227	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42166183G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4750C>T	15.37:g.42166183G>A	ENSP00000317790:p.Arg1584Trp						p.R1584W	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	25	4977	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1584						Missense_Mutation	SNP	ENST00000320955.6	37	c.4750C>T		.	.	.	.	.	.	.	.	.	.	.	5.857	0.342341	0.11069	.	.	ENSG00000137877	ENST00000320955	T	0.36340	1.26	5.26	3.38	0.38709	.	0.357061	0.24606	N	0.037096	T	0.27098	0.0664	L	0.48362	1.52	0.09310	N	1	B	0.26081	0.141	B	0.22880	0.042	T	0.19257	-1.0311	10	0.42905	T	0.14	.	5.2006	0.15262	0.1607:0.0:0.5872:0.2521	.	1584	Q9NRC6	SPTN5_HUMAN	W	1584	ENSP00000317790:R1584W	ENSP00000317790:R1584W	R	-	1	2	SPTBN5	39953475	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.047000	0.11963	0.603000	0.29913	-0.130000	0.14895	CGG		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	140	0	0	0	1	0	6	140				
ERBB3	2065	broad.mit.edu	37	12	56492614	56492614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56492614G>T	ENST00000267101.3	+	23	3204	c.2764G>T	c.(2764-2766)Gac>Tac	p.D922Y	ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	922	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGAAGTACCAGACCTGCTAGA	0.537																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2764-2766)Gac>Tac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							130.0	117.0	121.0					12																	56492614		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56492614G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2764G>T	12.37:g.56492614G>T	ENSP00000267101:p.Asp922Tyr					ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y|ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y	p.D922Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		23	3204	+			922			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2764G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323234	0.81580	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88544	0.6465	L	0.41824	1.3	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.989;0.983;0.992	D	0.88489	0.3074	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	863;42;922	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	Y	922;279;863;45;163;42	ENSP00000267101:D922Y;ENSP00000399178:D279Y;ENSP00000408340:D863Y;ENSP00000449129:D163Y;ENSP00000448729:D42Y	ENSP00000267101:D922Y	D	+	1	0	ERBB3	54778881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.698000	0.54771	2.941000	0.99782	0.655000	0.94253	GAC		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			84	388	1	0	7.7321e-48	1	9.52824e-48	84	388				
USP31	57478	broad.mit.edu	37	16	23093780	23093780	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23093780T>C	ENST00000219689.7	-	12	1928	c.1929A>G	c.(1927-1929)atA>atG	p.I643M		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	294	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCTTTAGATGTATAATAAGCA	0.498																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(1927-1929)atA>atG		ubiquitin specific peptidase 31							94.0	86.0	89.0					16																	23093780		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23093780T>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1929A>G	16.37:g.23093780T>C	ENSP00000219689:p.Ile643Met						p.I643M	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	12	1928	-			643					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.1929A>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751067	0.69533	.	.	ENSG00000103404	ENST00000219689	T	0.04083	3.71	4.75	-7.99	0.01131	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.155815	0.43110	D	0.000605	T	0.04182	0.0116	L	0.38175	1.15	0.80722	D	1	D	0.55800	0.973	P	0.49226	0.603	T	0.32508	-0.9904	10	0.72032	D	0.01	-2.6077	5.5788	0.17238	0.1062:0.1315:0.5449:0.2175	.	643	Q70CQ4	UBP31_HUMAN	M	643	ENSP00000219689:I643M	ENSP00000219689:I643M	I	-	3	3	USP31	23001281	0.017000	0.18338	0.011000	0.14972	0.999000	0.98932	-1.059000	0.03479	-1.905000	0.01090	0.528000	0.53228	ATA		0.498	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		83	323	0	0	0	1	0	83	323				
RAB19	401409	broad.mit.edu	37	7	140111711	140111711	+	Missense_Mutation	SNP	G	G	A	rs146219058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140111711G>A	ENST00000356407.3	+	2	307	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RAB19_ENST00000275874.5_Missense_Mutation_p.R127H|RAB19_ENST00000537763.1_Missense_Mutation_p.R80H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	80					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAGCGCTTCCGCACCATCACC	0.582													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16060	0.0		0.0	False		,,,				2504	0.0					ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(379-381)cGc>cAc		RAB19, member RAS oncogene family		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	123.0	101.0	108.0		239	4.7	1.0	7	dbSNP_134	108	0,8600		0,0,4300	yes	missense	RAB19	NM_001008749.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	80/218	140111711	3,13003	2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140111711G>A		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.239G>A	7.37:g.140111711G>A	ENSP00000348778:p.Arg80His					RAB19_ENST00000537763.1_Missense_Mutation_p.R80H|RAB19_ENST00000356407.3_Missense_Mutation_p.R80H	p.R127H			A4D1S5	RAB19_HUMAN			4	578	+	Melanoma(164;0.0142)		80					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.380G>A	CCDS34762.2	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	22.2	4.254546	0.80135	6.81E-4	0.0	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.59	4.68	0.58851	Small GTP-binding protein domain (1);	0.098409	0.64402	D	0.000001	T	0.82139	0.4972	M	0.75447	2.3	0.80722	D	1	D	0.59357	0.985	P	0.50378	0.639	D	0.84581	0.0661	10	0.87932	D	0	.	13.6217	0.62140	0.0775:0.0:0.9225:0.0	.	80	A4D1S5	RAB19_HUMAN	H	80;127;80;80	ENSP00000420782:R80H;ENSP00000275874:R127H;ENSP00000440167:R80H;ENSP00000348778:R80H	ENSP00000275874:R127H	R	+	2	0	RAB19	139758180	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.678000	0.68153	1.300000	0.44818	0.491000	0.48974	CGC		0.582	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			59	314	0	0	0	1	0	59	314				
PLCB3	5331	broad.mit.edu	37	11	64021957	64021957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64021957C>A	ENST00000540288.1	+	2	273	c.170C>A	c.(169-171)cCc>cAc	p.P57H	PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	57					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGACGGGCCCCAACATGGTG	0.682																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(169-171)cCc>cAc		phospholipase C, beta 3 (phosphatidylinositol-specific)							133.0	124.0	127.0					11																	64021957		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64021957C>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.170C>A	11.37:g.64021957C>A	ENSP00000443631:p.Pro57His					PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H	p.P57H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			2	273	+			57					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.170C>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.690530	0.48097	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.42900	0.96;0.96	4.37	4.37	0.52481	.	2.609590	0.03948	N	0.288080	T	0.48003	0.1476	L	0.29908	0.895	0.80722	D	1	P	0.49559	0.925	P	0.49752	0.621	T	0.32613	-0.9900	10	0.72032	D	0.01	.	14.2399	0.65950	0.0:1.0:0.0:0.0	.	57	Q01970	PLCB3_HUMAN	H	57	ENSP00000279230:P57H;ENSP00000443631:P57H	ENSP00000279230:P57H	P	+	2	0	PLCB3	63778533	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	1.618000	0.36954	2.139000	0.66308	0.550000	0.68814	CCC		0.682	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			181	750	1	0	1.06352e-88	1	1.36425e-88	181	750				
BRCA2	675	broad.mit.edu	37	13	32913417	32913417	+	Missense_Mutation	SNP	A	A	C	rs397507750|rs80358718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913417A>C	ENST00000380152.3	+	11	5158	c.4925A>C	c.(4924-4926)aAt>aCt	p.N1642T	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1642T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1642	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTACATGAAAATGTAGAAAAA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4924-4926)aAt>aCt	Homologous recombination	breast cancer 2, early onset							34.0	36.0	35.0					13																	32913417		2202	4298	6500	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913417A>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4925A>C	13.37:g.32913417A>C	ENSP00000369497:p.Asn1642Thr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.N1642T	p.N1642T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5152	+		Lung SC(185;0.0262)	1642					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4925A>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975053	0.34848	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00873	5.59;5.59	5.96	0.18	0.15068	.	0.582880	0.18290	N	0.145734	T	0.01124	0.0037	L	0.59436	1.845	0.09310	N	1	B	0.29909	0.261	B	0.20184	0.028	T	0.44143	-0.9347	10	0.52906	T	0.07	.	7.2658	0.26229	0.3915:0.3705:0.0:0.2381	.	1642	P51587	BRCA2_HUMAN	T	1642	ENSP00000369497:N1642T;ENSP00000439902:N1642T	ENSP00000369497:N1642T	N	+	2	0	BRCA2	31811417	0.219000	0.23619	0.013000	0.15412	0.989000	0.77384	1.041000	0.30291	0.105000	0.17753	0.533000	0.62120	AAT		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		30	179	0	0	0	1	0	30	179				
ACSF3	197322	broad.mit.edu	37	16	89167414	89167414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167414G>A	ENST00000317447.4	+	3	702	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	109					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGCCTCCTACGTCGTGGCCCA	0.647																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(325-327)Gtc>Atc		acyl-CoA synthetase family member 3							85.0	72.0	76.0					16																	89167414		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167414G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.325G>A	16.37:g.89167414G>A	ENSP00000320646:p.Val109Ile					ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I|ACSF3_ENST00000378345.4_Intron	p.V109I	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	702	+			109					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.325G>A	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946386	0.53079	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	AMP-dependent synthetase/ligase (1);	0.163204	0.56097	D	0.000040	T	0.54532	0.1864	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.57720	0.826	T	0.51356	-0.8716	10	0.41790	T	0.15	-40.9689	18.891	0.92403	0.0:0.0:1.0:0.0	.	109	Q4G176	ACSF3_HUMAN	I	109	ENSP00000320646:V109I;ENSP00000440734:V109I;ENSP00000384627:V109I	ENSP00000320646:V109I	V	+	1	0	ACSF3	87694915	1.000000	0.71417	0.113000	0.21522	0.035000	0.12851	4.632000	0.61311	2.460000	0.83146	0.655000	0.94253	GTC		0.647	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		18	150	0	0	0	1	0	18	150				
LRP10	26020	broad.mit.edu	37	14	23345402	23345402	+	Silent	SNP	G	G	A	rs372856009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23345402G>A	ENST00000359591.4	+	5	1936	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	LRP10_ENST00000546834.1_Silent_p.T415T	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	415	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTATGAGACGTGGGTGTGCG	0.572																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1243-1245)acG>acA		low density lipoprotein receptor-related protein 10		A		0,4406		0,0,2203	214.0	194.0	201.0		1245	-11.9	0.2	14		201	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	LRP10	NM_014045.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		415/714	23345402	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345402G>A	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1245G>A	14.37:g.23345402G>A						LRP10_ENST00000546834.1_Silent_p.T415T	p.T415T	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1936	+	all_cancers(95;4.69e-05)		415			LDL-receptor class A 4.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	37	c.1245G>A	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	A	5.109	0.205658	0.09704	0.0	1.16E-4	ENSG00000197324	ENST00000551466	.	.	.	5.97	-11.9	0.00025	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49504	-0.8933	4	.	.	.	-8.3507	5.5399	0.17031	0.4097:0.2297:0.2983:0.0623	.	.	.	.	M	317	.	.	V	+	1	0	LRP10	22415242	0.000000	0.05858	0.232000	0.24009	0.871000	0.50021	-4.299000	0.00257	-2.310000	0.00650	-2.160000	0.00327	GTG		0.572	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			33	669	0	0	0	1	0	33	669				
TJP3	27134	broad.mit.edu	37	19	3744015	3744015	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3744015A>G	ENST00000541714.2	+	15	2384	c.1922A>G	c.(1921-1923)gAc>gGc	p.D641G	TJP3_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000382008.3_Missense_Mutation_p.D655G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G|TJP3_ENST00000589378.1_Missense_Mutation_p.D650G|TJP3_ENST00000587686.1_Missense_Mutation_p.D660G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	641	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGATGCCTGACCAGTTTGAA	0.522																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1921-1923)gAc>gGc		tight junction protein 3							108.0	99.0	102.0					19																	3744015		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3744015A>G	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1922A>G	19.37:g.3744015A>G	ENSP00000439278:p.Asp641Gly					TJP3_ENST00000382008.3_Missense_Mutation_p.D655G|TJP3_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000587686.1_Missense_Mutation_p.D660G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G|TJP3_ENST00000589378.1_Missense_Mutation_p.D650G	p.D641G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2384	+			655			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1922A>G	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027520	0.75390	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10382	2.88;3.04;2.88;2.95	4.68	4.68	0.58851	Guanylate kinase/L-type calcium channel (1);	0.356896	0.31589	N	0.007385	T	0.17323	0.0416	L	0.59436	1.845	0.54753	D	0.999989	P;B;P;P	0.52061	0.95;0.032;0.9;0.735	P;B;P;P	0.47705	0.555;0.073;0.502;0.543	T	0.00878	-1.1530	10	0.87932	D	0	.	12.1035	0.53798	1.0:0.0:0.0:0.0	.	660;674;655;641	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	G	641;605;655;674	ENSP00000439278:D641G;ENSP00000439991:D605G;ENSP00000371438:D655G;ENSP00000262968:D674G	ENSP00000262968:D674G	D	+	2	0	TJP3	3695015	1.000000	0.71417	0.867000	0.34043	0.960000	0.62799	6.024000	0.70857	1.742000	0.51746	0.533000	0.62120	GAC		0.522	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			9	367	0	0	0	1	0	9	367				
POLR1A	25885	broad.mit.edu	37	2	86325797	86325797	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86325797C>T	ENST00000263857.6	-	3	747	c.369G>A	c.(367-369)caG>caA	p.Q123Q	POLR1A_ENST00000409681.1_Silent_p.Q123Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	123					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAACCCTCAGCTGGCAGAGTA	0.532																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(367-369)caG>caA		polymerase (RNA) I polypeptide A, 194kDa							147.0	149.0	149.0					2																	86325797		1920	4123	6043	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86325797C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.369G>A	2.37:g.86325797C>T						POLR1A_ENST00000409681.1_Silent_p.Q123Q	p.Q123Q			O95602	RPA1_HUMAN			3	747	-			123					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.369G>A	CCDS42706.1																																																																																				0.532	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		207	908	0	0	0	1	0	207	908				
DYNC1H1	1778	broad.mit.edu	37	14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTTTGACCCTAAGCAAACT	0.418																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5542-5544)cCt>cAt		dynein, cytoplasmic 1, heavy chain 1							151.0	142.0	145.0					14																	102472334		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102472334C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5543C>A	14.37:g.102472334C>A	ENSP00000348965:p.Pro1848His						p.P1848H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			27	5707	+			1848			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5543C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620173	0.66787	.	.	ENSG00000197102	ENST00000360184	T	0.30714	1.52	6.07	6.07	0.98685	.	0.050998	0.85682	D	0.000000	T	0.57417	0.2052	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	P	0.55545	0.778	T	0.60870	-0.7177	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1848	Q14204	DYHC1_HUMAN	H	1848	ENSP00000348965:P1848H	ENSP00000348965:P1848H	P	+	2	0	DYNC1H1	101542087	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.801000	0.69115	2.884000	0.98904	0.655000	0.94253	CCT		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		60	612	1	0	9.59835e-30	1	1.1228e-29	60	612				
TMEM175	84286	broad.mit.edu	37	4	947071	947071	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:947071C>A	ENST00000264771.4	+	8	741	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M|TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	186						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGACACGTCCTGGGCATCGT	0.647																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(556-558)Ctg>Atg		transmembrane protein 175							130.0	108.0	115.0					4																	947071		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:947071C>A	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.556C>A	4.37:g.947071C>A	ENSP00000264771:p.Leu186Met					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M|TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M	p.L186M	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	741	+			186					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.556C>A	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.323824	0.41096	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.56275	1.16;0.47;0.79;0.54	4.93	3.94	0.45596	.	0.000000	0.64402	D	0.000010	T	0.63010	0.2475	M	0.65498	2.005	0.42111	D	0.991389	D;D;D	0.76494	0.991;0.983;0.999	P;P;D	0.67231	0.863;0.863;0.95	T	0.64791	-0.6324	10	0.52906	T	0.07	-0.6814	5.3876	0.16226	0.0:0.8163:0.0:0.1837	.	104;186;104	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	M	186;173;104;104;92;70;104;104	ENSP00000264771:L186M;ENSP00000425181:L173M;ENSP00000427039:L70M;ENSP00000423669:L104M	ENSP00000264771:L186M	L	+	1	2	TMEM175	937071	1.000000	0.71417	0.664000	0.29753	0.013000	0.08279	1.546000	0.36179	2.273000	0.75805	0.574000	0.79327	CTG		0.647	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		56	221	1	0	2.14674e-31	1	2.52731e-31	56	221				
NQO2	4835	broad.mit.edu	37	6	3010414	3010414	+	Missense_Mutation	SNP	G	G	T	rs55771117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3010414G>T	ENST00000338130.2	+	6	875	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	55					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	CACAGACAAAGATATCACTGG	0.413																																						ENST00000338130.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7						c.(163-165)Gat>Tat		NAD(P)H dehydrogenase, quinone 2	Menadione(DB00170)|NADH(DB00157)						68.0	62.0	64.0					6																	3010414		2203	4300	6503	SO:0001583	missense	4835					cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity	g.chr6:3010414G>T	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.163G>T	6.37:g.3010414G>T	ENSP00000337773:p.Asp55Tyr					NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR	p.D55Y			P16083	NQO2_HUMAN			6	875	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	55					B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	37	c.163G>T	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851555	0.51270	.	.	ENSG00000124588	ENST00000426637;ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.63	5.63	0.86233	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	H	0.95079	3.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61103	-0.7130	10	0.87932	D	0	-29.6135	16.8378	0.85961	0.0:0.0:1.0:0.0	rs55771117	55;102	P16083;Q59EN2	NQO2_HUMAN;.	Y	55;55;102;55;55;55;55;55;55	ENSP00000406951:D55Y;ENSP00000369839:D55Y;ENSP00000380829:D55Y;ENSP00000337773:D55Y;ENSP00000369806:D55Y;ENSP00000369822:D55Y;ENSP00000369821:D55Y;ENSP00000369795:D55Y	ENSP00000337773:D55Y	D	+	1	0	NQO2	2955413	1.000000	0.71417	0.414000	0.26521	0.078000	0.17371	8.075000	0.89502	2.650000	0.89964	0.563000	0.77884	GAT		0.413	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			30	127	1	0	1.75199e-13	1	1.89187e-13	30	127				
CD302	9936	broad.mit.edu	37	2	160636639	160636639	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160636639T>C	ENST00000259053.4	-	4	389	c.346A>G	c.(346-348)Aca>Gca	p.T116A	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T1701A|LY75_ENST00000554112.1_Missense_Mutation_p.T1757A|LY75_ENST00000553424.1_Missense_Mutation_p.T1701A|CD302_ENST00000429078.2_Intron|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T1757A|CD302_ENST00000480212.1_5'UTR	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	116	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCTTGGTCTGTCCACTTATCA	0.348																																						ENST00000504764.1																			0											c.(5269-5271)Aca>Gca									131.0	118.0	122.0					2																	160636639		2202	4299	6501	SO:0001583	missense	0				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160636639T>C	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.346A>G	2.37:g.160636639T>C	ENSP00000259053:p.Thr116Ala					CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_Missense_Mutation_p.T1757A|LY75_ENST00000553424.1_Missense_Mutation_p.T1701A|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T1701A|CD302_ENST00000259053.4_Missense_Mutation_p.T116A|CD302_ENST00000429078.2_Intron	p.T1757A	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN			37	5296	-			1624					A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	ENST00000259053.4	37	c.5269A>G	CCDS33308.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595105	0.28445	.	.	ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	5.36	1.87	0.25490	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.430316	0.23114	N	0.051774	T	0.02610	0.0079	N	0.12182	0.205	0.22171	N	0.999315	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.46555	-0.9183	10	0.08837	T	0.75	-12.4594	3.5096	0.07703	0.1993:0.1593:0.0:0.6414	.	1701;1757;116	O60449-3;O60449-2;Q8IX05	.;.;CD302_HUMAN	A	116;1757;1701;1757;1701	ENSP00000259053:T116A;ENSP00000451511:T1757A;ENSP00000451446:T1701A;ENSP00000423463:T1757A;ENSP00000421035:T1701A	ENSP00000259053:T116A	T	-	1	0	LY75;CD302;LY75-CD302	160344885	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	0.696000	0.25541	0.090000	0.17273	0.377000	0.23210	ACA		0.348	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		49	287	0	0	0	1	0	49	287				
TGM1	7051	broad.mit.edu	37	14	24731070	24731070	+	Missense_Mutation	SNP	G	G	C	rs144651432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24731070G>C	ENST00000206765.6	-	3	462	c.339C>G	c.(337-339)aaC>aaG	p.N113K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	113					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTCCACACCGTTCACTACTA	0.592																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(337-339)aaC>aaG		transglutaminase 1	L-Glutamine(DB00130)						100.0	92.0	95.0					14																	24731070		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731070G>C	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.339C>G	14.37:g.24731070G>C	ENSP00000206765:p.Asn113Lys					TGM1_ENST00000544573.1_Intron	p.N113K	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	462	-			113					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.339C>G	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474567	0.12521	.	.	ENSG00000092295	ENST00000206765	D	0.83673	-1.75	5.29	-10.6	0.00265	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.720818	0.13927	N	0.353165	T	0.51126	0.1656	N	0.04880	-0.145	0.26576	N	0.973466	B	0.02656	0.0	B	0.08055	0.003	T	0.49698	-0.8912	10	0.06891	T	0.86	-1.3594	7.4068	0.26995	0.6273:0.1535:0.1418:0.0774	.	113	P22735	TGM1_HUMAN	K	113	ENSP00000206765:N113K	ENSP00000206765:N113K	N	-	3	2	TGM1	23800910	0.000000	0.05858	0.023000	0.16930	0.131000	0.20780	-3.860000	0.00348	-3.021000	0.00269	-1.036000	0.02392	AAC		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		36	421	0	0	0	1	0	36	421				
CXorf67	340602	broad.mit.edu	37	X	51150956	51150956	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51150956C>A	ENST00000342995.2	+	1	1190	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	363	Ser-rich.									breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGCTCTCTGTCTGGGTCAGCT	0.612																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(1087-1089)tCt>tAt		chromosome X open reading frame 67							46.0	38.0	40.0					X																	51150956		2203	4300	6503	SO:0001583	missense	340602							g.chrX:51150956C>A	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1088C>A	X.37:g.51150956C>A	ENSP00000342680:p.Ser363Tyr						p.S363Y							1	1190	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.1088C>A		.	.	.	.	.	.	.	.	.	.	c	8.941	0.965848	0.18659	.	.	ENSG00000187690	ENST00000342995	T	0.53640	0.61	3.23	1.34	0.21922	.	0.454593	0.16449	N	0.213970	T	0.49966	0.1588	.	.	.	0.09310	N	1	D	0.59767	0.986	P	0.56865	0.808	T	0.32903	-0.9889	9	0.36615	T	0.2	-2.7354	4.8626	0.13592	0.2113:0.6608:0.0:0.128	.	363	Q86X51	CX067_HUMAN	Y	363	ENSP00000342680:S363Y	ENSP00000342680:S363Y	S	+	2	0	CXorf67	51167696	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.531000	0.06171	0.219000	0.20840	0.597000	0.82753	TCT		0.612	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		64	208	1	0	3.8128e-34	1	4.53067e-34	64	208				
ITGAV	3685	broad.mit.edu	37	2	187503186	187503186	+	Silent	SNP	C	C	T	rs140473956		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503186C>T	ENST00000261023.3	+	10	1171	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ITGAV_ENST00000433736.2_Silent_p.G253G|ITGAV_ENST00000374907.3_Silent_p.G263G|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	299					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ATTTTACTGGCGAGCAGGTAT	0.333																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(895-897)ggC>ggT		integrin, alpha V		C	,,	2,4402	4.2+/-10.8	0,2,2200	84.0	86.0	85.0		759,789,897	0.8	1.0	2	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGAV	NM_001144999.1,NM_001145000.1,NM_002210.3	,,	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	,,	253/1003,263/1013,299/1049	187503186	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187503186C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.897C>T	2.37:g.187503186C>T						ITGAV_ENST00000374907.3_Silent_p.G263G|ITGAV_ENST00000433736.2_Silent_p.G253G	p.G299G	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	10	1171	+			299					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.897C>T	CCDS2292.1																																																																																				0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		58	285	0	0	0	1	0	58	285				
CRTC1	23373	broad.mit.edu	37	19	18888081	18888081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18888081C>T	ENST00000321949.8	+	14	1820	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	CRTC1_ENST00000594658.1_Silent_p.D557D|CRTC1_ENST00000338797.6_Silent_p.D614D|CRTC1_ENST00000601916.1_Silent_p.D356D	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TTCCCCTGGACGAACTCAAGA	0.632																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1840-1842)gaC>gaT		CREB regulated transcription coactivator 1							178.0	189.0	185.0					19																	18888081		2203	4300	6503	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18888081C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1794C>T	19.37:g.18888081C>T						CRTC1_ENST00000594658.1_Silent_p.D557D|CRTC1_ENST00000601916.1_Silent_p.D356D|CRTC1_ENST00000321949.8_Silent_p.D598D	p.D614D	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1867	+			598						Silent	SNP	ENST00000321949.8	37	c.1842C>T	CCDS32963.1																																																																																				0.632	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		348	1541	0	0	0	1	0	348	1541				
PPP2R1A	5518	broad.mit.edu	37	19	52729015	52729015	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52729015G>T	ENST00000322088.6	+	14	1765	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	CTD-2525I3.3_ENST00000599125.1_RNA|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	569	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGCTGACCCAGGACCAGGATG	0.567			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1705-1707)caG>caT		protein phosphatase 2, regulatory subunit A, alpha							143.0	139.0	140.0					19																	52729015		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52729015G>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1707G>T	19.37:g.52729015G>T	ENSP00000324804:p.Gln569His					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H|CTD-2525I3.3_ENST00000593857.1_RNA	p.Q569H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	14	1765	+			569			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1707G>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080854	0.36758	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.33438	1.41;2.36	4.33	4.33	0.51752	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000048	T	0.25082	0.0609	L	0.45228	1.405	0.46927	D	0.999252	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.09530	-1.0670	10	0.62326	D	0.03	-26.7592	8.3321	0.32193	0.1055:0.0:0.8945:0.0	.	514;569	F5H3X9;P30153	.;2AAA_HUMAN	H	559;489;569;136;514	ENSP00000324804:Q569H;ENSP00000415067:Q514H	ENSP00000324804:Q569H	Q	+	3	2	PPP2R1A	57420827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.085000	0.30840	2.413000	0.81919	0.650000	0.86243	CAG		0.567	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		94	416	1	0	5.82527e-40	1	7.05318e-40	94	416				
DHX32	55760	broad.mit.edu	37	10	127529488	127529488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127529488C>T	ENST00000284690.3	-	8	2111	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	BCCIP_ENST00000429863.2_Intron|AL360176.1_ENST00000401153.1_RNA|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	541						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATCTCCTTCGGGATGTAAA	0.413																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1621-1623)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 32							165.0	143.0	150.0					10																	127529488		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127529488C>T		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1621G>A	10.37:g.127529488C>T	ENSP00000284690:p.Glu541Lys					BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K	p.E541K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			8	2111	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	541					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1621G>A	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908434	0.92107	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.02579	4.24;4.24;4.24	4.75	4.75	0.60458	Helicase-associated domain (2);	0.165187	0.52532	D	0.000075	T	0.08891	0.0220	M	0.88450	2.955	0.53688	D	0.999973	P	0.41214	0.742	B	0.39258	0.295	T	0.02457	-1.1156	10	0.87932	D	0	-11.2385	16.4963	0.84246	0.0:1.0:0.0:0.0	.	541	Q7L7V1	DHX32_HUMAN	K	165;541;460	ENSP00000357710:E165K;ENSP00000284690:E541K;ENSP00000284688:E460K	ENSP00000284688:E460K	E	-	1	0	DHX32	127519478	0.996000	0.38824	0.988000	0.46212	0.956000	0.61745	4.222000	0.58580	2.470000	0.83445	0.655000	0.94253	GAA		0.413	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		139	519	0	0	0	1	0	139	519				
IGLV3-27	28791	broad.mit.edu	37	22	23011242	23011242	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23011242C>T	ENST00000390304.2	+	0	343									immunoglobulin lambda variable 3-27																		GAGGATGAGGCTGACTATTAC	0.557																																						ENST00000390304.2																			0																				29.0	30.0	30.0					22																	23011242		2081	4204	6285			0							g.chr22:23011242C>T	D86994		22q11.2	2012-02-08			ENSG00000211658	ENSG00000211658		"""Immunoglobulins / IGL locus"""	5910	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151171		22.37:g.23011242C>T														0	343	+									RNA	SNP	ENST00000390304.2	37																																																																																						0.557	IGLV3-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321641.1	NG_000002		12	136	0	0	0	1	0	12	136				
ERMAP	114625	broad.mit.edu	37	1	43296571	43296571	+	Missense_Mutation	SNP	G	G	A	rs146247630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43296571G>A	ENST00000372517.2	+	4	462	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	73	Ig-like V-type.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCCGCAGCGCTCCCAGGCT	0.622																																						ENST00000372517.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(217-219)cGc>cAc		erythroblast membrane-associated protein (Scianna blood group)		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	56.0	58.0		218,218	-7.9	0.0	1	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	ERMAP	NM_001017922.1,NM_018538.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	73/476,73/476	43296571	1,13005	2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43296571G>A	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.218G>A	1.37:g.43296571G>A	ENSP00000361595:p.Arg73His					ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H|ERMAP_ENST00000328249.3_5'UTR	p.R73H	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN			4	462	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	73			Ig-like V-type.		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.218G>A	CCDS475.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941175	0.73557	2.27E-4	0.0	ENSG00000164010	ENST00000372517;ENST00000372514	T;T	0.65732	-0.17;-0.17	4.97	-7.88	0.01178	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.993010	0.02380	N	0.078693	T	0.41442	0.1159	N	0.25485	0.75	0.20403	N	0.999905	B;D	0.54047	0.161;0.964	B;P	0.45946	0.012;0.498	T	0.53187	-0.8474	10	0.14656	T	0.56	.	0.3555	0.00356	0.24:0.2245:0.1643:0.3712	.	134;73	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	H	73	ENSP00000361595:R73H;ENSP00000361592:R73H	ENSP00000361592:R73H	R	+	2	0	ERMAP	43069158	0.000000	0.05858	0.000000	0.03702	0.477000	0.33069	-0.950000	0.03889	-1.200000	0.02662	0.460000	0.39030	CGC		0.622	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		25	83	0	0	0	1	0	25	83				
JPH4	84502	broad.mit.edu	37	14	24045124	24045124	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24045124G>A	ENST00000397118.3	-	4	1823	c.921C>T	c.(919-921)ggC>ggT	p.G307G	JPH4_ENST00000356300.4_Silent_p.G307G|JPH4_ENST00000544177.1_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	307					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCAGCCACTCGCCCTCGTAGC	0.741																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(919-921)ggC>ggT		junctophilin 4							7.0	8.0	7.0					14																	24045124		1863	3754	5617	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24045124G>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.921C>T	14.37:g.24045124G>A						JPH4_ENST00000356300.4_Silent_p.G307G	p.G307G	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	1823	-	all_cancers(95;0.000251)		307					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.921C>T	CCDS9603.1																																																																																				0.741	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		16	108	0	0	0	1	0	16	108				
PMPCA	23203	broad.mit.edu	37	9	139313360	139313360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139313360A>G	ENST00000371717.3	+	10	1199	c.1190A>G	c.(1189-1191)gAc>gGc	p.D397G	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	397					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCCAGCGCCGACCCAAGACAG	0.652																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1189-1191)gAc>gGc		peptidase (mitochondrial processing) alpha							60.0	50.0	54.0					9																	139313360		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139313360A>G	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1190A>G	9.37:g.139313360A>G	ENSP00000360782:p.Asp397Gly					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G	p.D397G	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	10	1199	+		Myeloproliferative disorder(178;0.0821)	397					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1190A>G	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	a	12.48	1.949759	0.34377	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.09445	2.98;2.98;2.98	5.2	5.2	0.72013	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.042704	0.85682	D	0.000000	T	0.10035	0.0246	L	0.35487	1.065	0.80722	D	1	B;B;B;B	0.32968	0.12;0.025;0.392;0.025	B;B;B;B	0.33960	0.126;0.056;0.173;0.056	T	0.26360	-1.0105	10	0.24483	T	0.36	.	14.2719	0.66157	1.0:0.0:0.0:0.0	.	266;397;105;397	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	G	397;266;105	ENSP00000360782:D397G;ENSP00000416702:D266G;ENSP00000408393:D105G	ENSP00000360782:D397G	D	+	2	0	PMPCA	138433181	1.000000	0.71417	0.992000	0.48379	0.277000	0.26821	7.014000	0.76380	1.964000	0.57103	0.529000	0.55759	GAC		0.652	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		9	224	0	0	0	1	0	9	224				
MSMO1	6307	broad.mit.edu	37	4	166254711	166254711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166254711C>A	ENST00000261507.6	+	2	362	c.189C>A	c.(187-189)ttC>ttA	p.F63L	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.F63L	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	63					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)	p.F63L(1)									CCCTTTATTTCTTATTCTGTT	0.279																																						ENST00000261507.6																			1	Substitution - Missense(1)	p.F63L(1)	large_intestine(1)								c.(187-189)ttC>ttA		methylsterol monooxygenase 1	NADH(DB00157)						90.0	94.0	93.0					4																	166254711		2203	4298	6501	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166254711C>A	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.189C>A	4.37:g.166254711C>A	ENSP00000261507:p.Phe63Leu					MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.F63L	p.F63L	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN			2	362	+			63					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.189C>A	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186492	0.38609	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.58	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.90145	3.09	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.15484	0.013;0.003	T	0.57435	-0.7812	10	0.46703	T	0.11	-18.31	10.0691	0.42322	0.0:0.7285:0.0:0.2715	.	63;63	D6R952;Q15800	.;MSMO1_HUMAN	L	63	ENSP00000261507:F63L;ENSP00000425241:F63L;ENSP00000423633:F63L;ENSP00000425112:F63L	ENSP00000261507:F63L	F	+	3	2	SC4MOL	166474161	1.000000	0.71417	0.968000	0.41197	0.790000	0.44656	1.956000	0.40382	0.718000	0.32166	0.561000	0.74099	TTC		0.279	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745		33	153	1	0	9.65021e-13	1	1.03847e-12	33	153				
MTG2	26164	broad.mit.edu	37	20	60768660	60768660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60768660C>T	ENST00000370823.3	+	2	202	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.L62L	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	62	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGGGAAGAAGCTGCTCTCTGA	0.622																																						ENST00000370823.3																			0											c.(184-186)Ctg>Ttg		mitochondrial ribosome-associated GTPase 2							30.0	31.0	31.0					20																	60768660		2202	4300	6502	SO:0001819	synonymous_variant	26164							g.chr20:60768660C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.184C>T	20.37:g.60768660C>T						MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.L62L	p.L62L	NM_015666.3	NP_056481.1					2	202	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.184C>T	CCDS13492.1																																																																																				0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		32	128	0	0	0	1	0	32	128				
KIAA0232	9778	broad.mit.edu	37	4	6862743	6862743	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6862743G>T	ENST00000307659.5	+	7	1089	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	212							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATCATCCACAGCCCCACCAGC	0.463																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(634-636)Gcc>Tcc		KIAA0232							115.0	120.0	118.0					4																	6862743		2046	4199	6245	SO:0001583	missense	9778						ATP binding	g.chr4:6862743G>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.634G>T	4.37:g.6862743G>T	ENSP00000303928:p.Ala212Ser					KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	p.A212S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	1089	+			212					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.634G>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059173	0.76074	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	5.53	0.82687	.	0.106608	0.64402	D	0.000005	T	0.53818	0.1820	N	0.24115	0.695	0.39144	D	0.962104	P	0.37370	0.592	B	0.42771	0.397	T	0.60791	-0.7193	9	0.72032	D	0.01	-7.13	19.4461	0.94847	0.0:0.0:1.0:0.0	.	212	Q92628	K0232_HUMAN	S	212	.	ENSP00000303928:A212S	A	+	1	0	KIAA0232	6913644	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.409000	0.80053	2.603000	0.88011	0.655000	0.94253	GCC		0.463	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		122	388	1	0	4.61678e-68	1	5.85161e-68	122	388				
GMDS	2762	broad.mit.edu	37	6	1624761	1624761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1624761G>A	ENST00000380815.4	-	10	1271	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	GMDS_ENST00000530927.1_Silent_p.G304G|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	334					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGGTGCAGTCGCCCTGCAGAA	0.667																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(1000-1002)ggC>ggT		GDP-mannose 4,6-dehydratase							33.0	35.0	34.0					6																	1624761		2203	4300	6503	SO:0001819	synonymous_variant	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1624761G>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.1002C>T	6.37:g.1624761G>A						GMDS_ENST00000530927.1_Silent_p.G304G|GMDS_ENST00000467288.2_5'UTR	p.G334G	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	10	1271	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	334					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	c.1002C>T	CCDS4474.1																																																																																				0.667	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			5	181	0	0	0	1	0	5	181				
RYR2	6262	broad.mit.edu	37	1	237886522	237886522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237886522G>T	ENST00000366574.2	+	74	10966	c.10649G>T	c.(10648-10650)aGa>aTa	p.R3550I	RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3550					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGTAGAAAGAGTATTGGAT	0.383																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10648-10650)aGa>aTa		ryanodine receptor 2 (cardiac)							150.0	142.0	145.0					1																	237886522		1867	4086	5953	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237886522G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10649G>T	1.37:g.237886522G>T	ENSP00000355533:p.Arg3550Ile					RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I|RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I	p.R3550I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10966	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3550					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10649G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916312	0.92249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97089	-4.24;-4.21;-4.23	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000014	D	0.97328	0.9126	M	0.77406	2.37	0.80722	D	1	P	0.49696	0.927	P	0.46758	0.526	D	0.97220	0.9877	10	0.52906	T	0.07	-17.554	20.275	0.98485	0.0:0.0:1.0:0.0	.	3550	Q92736	RYR2_HUMAN	I	3550;3548;3534;505	ENSP00000355533:R3550I;ENSP00000353174:R3548I;ENSP00000443798:R3534I	ENSP00000353174:R3548I	R	+	2	0	RYR2	235953145	1.000000	0.71417	0.838000	0.33150	0.994000	0.84299	9.539000	0.98076	2.800000	0.96347	0.455000	0.32223	AGA		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		112	337	1	0	4.05343e-56	1	5.07097e-56	112	337				
COL12A1	1303	broad.mit.edu	37	6	75840677	75840677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75840677C>T	ENST00000322507.8	-	36	6267	c.5958G>A	c.(5956-5958)acG>acA	p.T1986T	COL12A1_ENST00000483888.2_Silent_p.T1986T|COL12A1_ENST00000416123.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1986	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCACCATGCGCGTGTTTCCTG	0.507																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5956-5958)acG>acA		collagen, type XII, alpha 1							94.0	96.0	95.0					6																	75840677		2071	4226	6297	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75840677C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5958G>A	6.37:g.75840677C>T						COL12A1_ENST00000416123.2_Silent_p.T1986T|COL12A1_ENST00000483888.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T	p.T1986T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			36	6267	-			1986			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5958G>A	CCDS43482.1																																																																																				0.507	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		67	329	0	0	0	1	0	67	329				
IGSF10	285313	broad.mit.edu	37	3	151163109	151163109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151163109C>T	ENST00000282466.3	-	4	4659	c.4660G>A	c.(4660-4662)Gca>Aca	p.A1554T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1554					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTGTTAGTGCTGGCATGGGA	0.413																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(4660-4662)Gca>Aca		immunoglobulin superfamily, member 10							177.0	178.0	177.0					3																	151163109		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163109C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4660G>A	3.37:g.151163109C>T	ENSP00000282466:p.Ala1554Thr						p.A1554T	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4659	-			1554					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4660G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725953	0.15439	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68624	-0.34	5.72	1.66	0.24008	.	0.321356	0.21865	N	0.067969	T	0.44138	0.1279	L	0.36672	1.1	0.09310	N	1	B	0.25312	0.123	B	0.24006	0.05	T	0.16070	-1.0415	10	0.07990	T	0.79	.	1.8719	0.03210	0.166:0.4979:0.1608:0.1753	.	1554	Q6WRI0	IGS10_HUMAN	T	1554;181	ENSP00000282466:A1554T	ENSP00000282466:A1554T	A	-	1	0	IGSF10	152645799	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.788000	0.04614	0.333000	0.23563	0.644000	0.83932	GCA		0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		153	744	0	0	0	1	0	153	744				
RNF213	57674	broad.mit.edu	37	17	78363064	78363064	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78363064C>T	ENST00000582970.1	+	65	15235	c.15092C>T	c.(15091-15093)aCt>aTt	p.T5031I	RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5031					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTAGAAGTCACTCTGGGGTTT	0.517																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(15091-15093)aCt>aTt		ring finger protein 213							129.0	114.0	119.0					17																	78363064		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78363064C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15092C>T	17.37:g.78363064C>T	ENSP00000464087:p.Thr5031Ile					CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I	p.T5031I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		65	15235	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.15092C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	8.805	0.933888	0.18206	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22539	1.95	5.39	3.41	0.39046	.	0.444633	0.22383	N	0.060799	T	0.22859	0.0552	M	0.75447	2.3	0.09310	N	1	B;B	0.24533	0.105;0.014	B;B	0.18871	0.023;0.012	T	0.16958	-1.0385	10	0.44086	T	0.13	.	8.0358	0.30491	0.0:0.6954:0.0:0.3046	.	5031;3104	D6RI12;Q63HN8	.;RN213_HUMAN	I	5031;5080;3104;381	ENSP00000338218:T3104I	ENSP00000338218:T3104I	T	+	2	0	RNF213	75977659	0.009000	0.17119	0.050000	0.19076	0.379000	0.30106	2.150000	0.42254	0.660000	0.30964	0.655000	0.94253	ACT		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		44	239	0	0	0	1	0	44	239				
GNPTAB	79158	broad.mit.edu	37	12	102159023	102159023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102159023G>A	ENST00000299314.7	-	13	1934	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	558					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCACCTTTTGGAATAATATAG	0.358																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1672-1674)Cca>Tca		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							112.0	110.0	111.0					12																	102159023		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102159023G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1672C>T	12.37:g.102159023G>A	ENSP00000299314:p.Pro558Ser						p.P558S	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	1934	-			558					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.1672C>T	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313537	0.81358	.	.	ENSG00000111670	ENST00000299314	D	0.97161	-4.27	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98025	1.0373	10	0.72032	D	0.01	-16.2415	15.2943	0.73891	0.0669:0.0:0.9331:0.0	.	558	Q3T906	GNPTA_HUMAN	S	558	ENSP00000299314:P558S	ENSP00000299314:P558S	P	-	1	0	GNPTAB	100683154	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.230000	0.95299	1.536000	0.49237	0.655000	0.94253	CCA		0.358	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			102	460	0	0	0	1	0	102	460				
NRXN3	9369	broad.mit.edu	37	14	79454462	79454462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79454462T>C	ENST00000554719.1	+	12	2612	c.2121T>C	c.(2119-2121)taT>taC	p.Y707Y	NRXN3_ENST00000335750.5_Silent_p.Y707Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGACCTCTTATTCTGGAAACC	0.438																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(2119-2121)taT>taC		neurexin 3							167.0	156.0	160.0					14																	79454462		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79454462T>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.2121T>C	14.37:g.79454462T>C						NRXN3_ENST00000335750.5_Silent_p.Y707Y	p.Y707Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	12	2612	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.2121T>C	CCDS9870.1																																																																																				0.438	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		91	461	0	0	0	1	0	91	461				
OR52I2	143502	broad.mit.edu	37	11	4608230	4608230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608230C>A	ENST00000312614.4	+	1	210	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACTGAGTGCCATGTACATC	0.493																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(187-189)gCc>gAc		olfactory receptor, family 52, subfamily I, member 2							247.0	241.0	243.0					11																	4608230		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608230C>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.188C>A	11.37:g.4608230C>A	ENSP00000308764:p.Ala63Asp						p.A63D	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	210	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	63					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.188C>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112313	0.08831	.	.	ENSG00000226288	ENST00000312614	T	0.01106	5.33	4.1	-1.4	0.08968	.	1.354880	0.05027	N	0.473901	T	0.01940	0.0061	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.23574	0.047	T	0.47459	-0.9116	10	0.35671	T	0.21	-0.0649	8.724	0.34458	0.0:0.4359:0.0:0.5641	.	63	Q8NH67	O52I2_HUMAN	D	63	ENSP00000308764:A63D	ENSP00000308764:A63D	A	+	2	0	OR52I2	4564806	0.000000	0.05858	0.032000	0.17829	0.220000	0.24768	-1.719000	0.01873	-0.171000	0.10797	0.552000	0.68991	GCC		0.493	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		170	908	1	0	4.37143e-48	1	5.39033e-48	170	908				
SACS	26278	broad.mit.edu	37	13	23904672	23904672	+	Missense_Mutation	SNP	C	C	T	rs374048886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23904672C>T	ENST00000382292.3	-	9	13616	c.13343G>A	c.(13342-13344)cGc>cAc	p.R4448H	SACS_ENST00000382298.3_Missense_Mutation_p.R4448H|SACS_ENST00000402364.1_Missense_Mutation_p.R3698H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4448					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGCCATCTGCGTGCTTCCAC	0.468																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(13342-13344)cGc>cAc		spastic ataxia of Charlevoix-Saguenay (sacsin)		C	HIS/ARG	0,4406		0,0,2203	81.0	88.0	86.0		13343	5.8	0.1	13		86	1,8597	1.2+/-3.3	0,1,4298	no	missense	SACS	NM_014363.4	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	4448/4580	23904672	1,13003	2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904672C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13343G>A	13.37:g.23904672C>T	ENSP00000371729:p.Arg4448His					SACS_ENST00000382292.3_Missense_Mutation_p.R4448H|SACS_ENST00000402364.1_Missense_Mutation_p.R3698H	p.R4448H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13931	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4448					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13343G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325834	0.60743	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-2.13;-2.13;-2.13	5.85	5.85	0.93711	HEPN (1);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	L	0.38175	1.15	0.54753	D	0.999985	D	0.89917	1.0	D	0.76071	0.987	D	0.91393	0.5137	10	0.72032	D	0.01	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	4448	Q9NZJ4	SACS_HUMAN	H	4448;3698;4448	ENSP00000371729:R4448H;ENSP00000385844:R3698H;ENSP00000371735:R4448H	ENSP00000371729:R4448H	R	-	2	0	SACS	22802672	1.000000	0.71417	0.063000	0.19743	0.063000	0.16089	5.920000	0.70017	2.767000	0.95098	0.563000	0.77884	CGC		0.468	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		87	580	0	0	0	1	0	87	580				
RLN2	6019	broad.mit.edu	37	9	5300153	5300153	+	Missense_Mutation	SNP	G	G	A	rs372740663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5300153G>A	ENST00000381627.3	-	2	891	c.503C>T	c.(502-504)gCt>gTt	p.A168V	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	168					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ACATTTATTAGCCAATGCACT	0.373																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(502-504)gCt>gTt		relaxin 2							109.0	105.0	107.0					9																	5300153		2203	4300	6503	SO:0001583	missense	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300153G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.503C>T	9.37:g.5300153G>A	ENSP00000371040:p.Ala168Val					RLN2_ENST00000308420.3_3'UTR	p.A168V	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	891	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	168					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	c.503C>T	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421148	0.11928	.	.	ENSG00000107014	ENST00000381627	D	0.84944	-1.92	3.24	-5.1	0.02911	Insulin-like (4);	2.252680	0.01724	N	0.028443	T	0.76212	0.3956	L	0.32530	0.975	0.09310	N	1	B	0.18968	0.032	B	0.20955	0.032	T	0.61426	-0.7065	10	0.51188	T	0.08	.	5.4884	0.16763	0.1364:0.2102:0.5552:0.0982	.	168	P04090	REL2_HUMAN	V	168	ENSP00000371040:A168V	ENSP00000371040:A168V	A	-	2	0	RLN2	5290153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.396000	0.01052	-1.078000	0.03117	-2.219000	0.00296	GCT		0.373	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		86	295	0	0	0	1	0	86	295				
TTN	7273	broad.mit.edu	37	2	179456819	179456819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179456819C>T	ENST00000591111.1	-	252	55113	c.54889G>A	c.(54889-54891)Gct>Act	p.A18297T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19938T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18297	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AGATGCTTAGCGAAGTGACTC	0.473																																						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.(59812-59814)Gct>Act		titin							81.0	79.0	79.0					2																	179456819		1933	4139	6072	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456819C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54889G>A	2.37:g.179456819C>T	ENSP00000465570:p.Ala18297Thr					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18297T|TTN-AS1_ENST00000592689.1_RNA	p.A19938T	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)		302	60036	-			18297			Fibronectin type-III 44.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.59812G>A		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563683	0.45694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70046	0.3179	L	0.55017	1.72	0.58432	D	0.999994	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.67103	0.909;0.909;0.909;0.949	T	0.69734	-0.5065	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10873;10998;11065;18297	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17370;10873;11065;10998;10871	ENSP00000343764:A17370T;ENSP00000434586:A10873T;ENSP00000340554:A11065T;ENSP00000352154:A10998T	ENSP00000340554:A11065T	A	-	1	0	TTN	179165065	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.059000	0.57470	2.868000	0.98415	0.557000	0.71058	GCT		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	150	0	0	0	1	0	32	150				
DUOX1	53905	broad.mit.edu	37	15	45444185	45444185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45444185G>A	ENST00000321429.4	+	25	3535	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H|DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1043	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AACTACCGGCGCCACATCGGC	0.587																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3127-3129)cGc>cAc		dual oxidase 1							56.0	53.0	54.0					15																	45444185		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45444185G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3128G>A	15.37:g.45444185G>A	ENSP00000317997:p.Arg1043His					DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H	p.R1043H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	25	3535	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1043			Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3128G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103198	0.94245	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87179	-2.22;-2.22	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.932	D	0.92687	0.6163	10	0.66056	D	0.02	-27.6461	14.3394	0.66614	0.0:0.0:1.0:0.0	.	176;1043	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	H	1043	ENSP00000317997:R1043H;ENSP00000373689:R1043H	ENSP00000317997:R1043H	R	+	2	0	DUOX1	43231477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.511000	0.98006	2.302000	0.77476	0.655000	0.94253	CGC		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		39	197	0	0	0	1	0	39	197				
ABCA8	10351	broad.mit.edu	37	17	66928609	66928609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66928609C>T	ENST00000269080.2	-	6	754	c.617G>A	c.(616-618)gGa>gAa	p.G206E	ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	206					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CATATTTTTTCCAGTAACTGA	0.338																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(616-618)gGa>gAa		ATP-binding cassette, sub-family A (ABC1), member 8							103.0	99.0	100.0					17																	66928609		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928609C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.617G>A	17.37:g.66928609C>T	ENSP00000269080:p.Gly206Glu					ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E|ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E	p.G206E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			6	754	-	Breast(10;4.56e-13)		206					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.617G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390071	0.61956	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.86164	-2.08;-2.08	4.86	4.86	0.63082	.	0.000000	0.50627	D	0.000113	D	0.93041	0.7785	M	0.83603	2.65	0.45541	D	0.998499	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999	D;D;D;D;D	0.83275	0.991;0.996;0.991;0.978;0.987	D	0.92106	0.5692	10	0.38643	T	0.18	.	13.6644	0.62387	0.0:1.0:0.0:0.0	.	145;206;206;206;206	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	E	206;206;145;206	ENSP00000269080:G206E;ENSP00000402814:G206E	ENSP00000269080:G206E	G	-	2	0	ABCA8	64440204	0.972000	0.33761	0.965000	0.40720	0.557000	0.35523	2.978000	0.49305	2.686000	0.91538	0.563000	0.77884	GGA		0.338	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		34	399	0	0	0	1	0	34	399				
CEP192	55125	broad.mit.edu	37	18	13068922	13068922	+	Missense_Mutation	SNP	G	G	A	rs142781329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13068922G>A	ENST00000325971.8	+	23	4699	c.3106G>A	c.(3106-3108)Gtt>Att	p.V1036I	CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I|CEP192_ENST00000506447.1_Missense_Mutation_p.V1632I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1036					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						CCCTACGCCCGTTCTTAGAAG	0.473																																						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.(4894-4896)Gtt>Att		centrosomal protein 192kDa		G	ILE/VAL	0,4406		0,0,2203	116.0	115.0	115.0		4894	2.0	0.0	18	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP192	NM_032142.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1632/2538	13068922	1,13005	2203	4300	6503	SO:0001583	missense	55125							g.chr18:13068922G>A	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.3106G>A	18.37:g.13068922G>A	ENSP00000317156:p.Val1036Ile					CEP192_ENST00000325971.8_Missense_Mutation_p.V1036I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I	p.V1632I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			25	4974	+			1227					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4894G>A		.	.	.	.	.	.	.	.	.	.	G	7.910	0.736223	0.15574	0.0	1.16E-4	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.58060	0.36;0.36;0.36	5.77	2.03	0.26663	.	0.287772	0.32852	N	0.005567	T	0.31231	0.0790	L	0.38175	1.15	0.24190	N	0.995551	P;P;B	0.44627	0.725;0.839;0.108	B;B;B	0.31946	0.073;0.138;0.029	T	0.23691	-1.0181	10	0.14252	T	0.57	-3.5773	9.756	0.40504	0.3947:0.0:0.6053:0.0	.	1157;1632;234	C9JT09;E9PF99;Q9HCK3	.;.;.	I	1632;1036;1036;1157	ENSP00000427550:V1632I;ENSP00000317156:V1036I;ENSP00000389190:V1157I	ENSP00000317156:V1036I	V	+	1	0	CEP192	13058922	0.936000	0.31750	0.027000	0.17364	0.003000	0.03518	1.456000	0.35201	0.472000	0.27344	-0.749000	0.03505	GTT		0.473	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		113	456	0	0	0	1	0	113	456				
YTHDC2	64848	broad.mit.edu	37	5	112889540	112889540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112889540G>A	ENST00000161863.4	+	15	2254	c.2041G>A	c.(2041-2043)Gtt>Att	p.V681I	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V681I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	681	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACCTGCAGGTGTTCGAAAAAT	0.284																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2041-2043)Gtt>Att		YTH domain containing 2							56.0	57.0	56.0					5																	112889540		2201	4297	6498	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112889540G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2041G>A	5.37:g.112889540G>A	ENSP00000161863:p.Val681Ile					YTHDC2_ENST00000515883.1_Missense_Mutation_p.V681I	p.V681I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	15	2254	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	681			Helicase C-terminal.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.2041G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274031	0.23221	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.75154	-0.91;-0.91	5.51	4.52	0.55395	Helicase, C-terminal (3);	0.121117	0.52532	D	0.000061	T	0.66829	0.2829	M	0.64567	1.98	0.30228	N	0.796184	B	0.06786	0.001	B	0.12837	0.008	T	0.60439	-0.7263	10	0.35671	T	0.21	.	6.275	0.20975	0.3016:0.0:0.6984:0.0	.	681	Q9H6S0	YTDC2_HUMAN	I	681;681;591	ENSP00000161863:V681I;ENSP00000423101:V681I	ENSP00000161863:V681I	V	+	1	0	YTHDC2	112917439	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.406000	0.44557	2.572000	0.86782	0.650000	0.86243	GTT		0.284	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		62	169	0	0	0	1	0	62	169				
TRIM3	10612	broad.mit.edu	37	11	6478645	6478645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6478645G>A	ENST00000525074.1	-	5	971	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	TRIM3_ENST00000345851.3_Missense_Mutation_p.R193C|TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R193C|TRIM3_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	193					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCCTTGCGCTCCTGCAGC	0.612																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(577-579)Cgc>Tgc		tripartite motif containing 3							72.0	69.0	70.0					11																	6478645		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478645G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.577C>T	11.37:g.6478645G>A	ENSP00000433102:p.Arg193Cys					TRIM3_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R193C|TRIM3_ENST00000345851.3_Missense_Mutation_p.R193C	p.R193C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	971	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	193					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.577C>T	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382009	0.61845	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;D;T	0.84516	-0.7;-0.7;-0.87;-0.7;-1.86;0.89	5.15	4.24	0.50183	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.65975	2.015	0.58432	D	0.999996	D;P;D	0.71674	0.998;0.815;0.997	D;B;P	0.64042	0.921;0.071;0.836	D	0.86892	0.2049	10	0.42905	T	0.14	-9.609	7.5834	0.27978	0.0849:0.0:0.7521:0.163	.	74;74;193	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	C	193;193;193;193;182;193;193;74;193	ENSP00000433102:R193C;ENSP00000340797:R193C;ENSP00000441091:R193C;ENSP00000352508:R193C;ENSP00000445460:R74C;ENSP00000433070:R193C	ENSP00000337094:R182C	R	-	1	0	TRIM3	6435221	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.499000	0.45372	1.177000	0.42855	0.462000	0.41574	CGC		0.612	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		8	411	0	0	0	1	0	8	411				
SRMS	6725	broad.mit.edu	37	20	62178549	62178549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178549C>T	ENST00000217188.1	-	1	308	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	90	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGCCTGCGTGCGAAGATGTAG	0.677																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(268-270)Gca>Aca		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							94.0	99.0	97.0					20																	62178549		2202	4298	6500	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178549C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.268G>A	20.37:g.62178549C>T	ENSP00000217188:p.Ala90Thr						p.A90T	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	308	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		90			SH3.			Missense_Mutation	SNP	ENST00000217188.1	37	c.268G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090229	0.36855	.	.	ENSG00000125508	ENST00000217188	T	0.51817	0.69	4.24	4.24	0.50183	Src homology-3 domain (3);	0.000000	0.53938	D	0.000053	T	0.51787	0.1695	M	0.89658	3.05	0.42584	D	0.993225	P	0.34699	0.464	B	0.31751	0.135	T	0.57745	-0.7758	10	0.36615	T	0.2	.	10.051	0.42216	0.0:0.9043:0.0:0.0957	.	90	Q9H3Y6	SRMS_HUMAN	T	90	ENSP00000217188:A90T	ENSP00000217188:A90T	A	-	1	0	SRMS	61648993	0.984000	0.35163	0.101000	0.21167	0.005000	0.04900	2.625000	0.46452	1.899000	0.54978	0.491000	0.48974	GCA		0.677	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		52	189	0	0	0	1	0	52	189				
AP3M2	10947	broad.mit.edu	37	8	42012394	42012394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42012394G>T	ENST00000518421.1	+	3	480	c.189G>T	c.(187-189)aaG>aaT	p.K63N	AP3M2_ENST00000520685.1_Intron|RP11-589C21.5_ENST00000564481.1_RNA|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N|AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	63					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCGCCACAAGATCTTTTTTG	0.488																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(187-189)aaG>aaT		adaptor-related protein complex 3, mu 2 subunit							90.0	89.0	90.0					8																	42012394		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42012394G>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.189G>T	8.37:g.42012394G>T	ENSP00000428787:p.Lys63Asn					AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N|AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N	p.K63N	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		3	480	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	63					B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.189G>T	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699415	0.30142	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000522288;ENST00000517922	T;T;T;T	0.75050	-0.88;-0.88;-0.88;-0.9	5.29	5.29	0.74685	Longin-like (1);AP complex, mu/sigma subunit (1);	0.108971	0.64402	D	0.000009	T	0.43366	0.1244	N	0.01197	-0.965	0.44309	D	0.99718	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52117	-0.8618	10	0.02654	T	1	-23.4747	14.5269	0.67894	0.0:0.1463:0.8537:0.0	.	63;63	E7ER80;P53677	.;AP3M2_HUMAN	N	63	ENSP00000428787:K63N;ENSP00000174653:K63N;ENSP00000380132:K63N;ENSP00000429435:K63N	ENSP00000174653:K63N	K	+	3	2	AP3M2	42131551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.038000	0.30254	2.477000	0.83638	0.555000	0.69702	AAG		0.488	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			26	307	1	0	2.79863e-10	1	2.965e-10	26	307				
ARID1B	57492	broad.mit.edu	37	6	157505566	157505566	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157505566C>A	ENST00000350026.5	+	12	3509	c.3508C>A	c.(3508-3510)Cct>Act	p.P1170T	ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1183T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1170					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCGCCATCTCCTGGTAAGTG	0.632																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3547-3549)Cct>Act		AT rich interactive domain 1B (SWI1-like)							22.0	25.0	24.0					6																	157505566		2203	4295	6498	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157505566C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3508C>A	6.37:g.157505566C>A	ENSP00000055163:p.Pro1170Thr					ARID1B_ENST00000350026.5_Missense_Mutation_p.P1170T|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T	p.P1183T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	13	3548	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1170					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3547C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022586	0.93462	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.33865	4.49;4.48;4.5;4.52;4.15;2.07;1.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.51857	-0.8652	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	420;1170;1183;1165	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	T	1183;1170;1223;1165;640;692;645;237	ENSP00000344546:P1183T;ENSP00000055163:P1170T;ENSP00000356116:P1223T;ENSP00000275248:P1165T;ENSP00000412835:P692T;ENSP00000313006:P645T;ENSP00000383596:P237T	ENSP00000275248:P1165T	P	+	1	0	ARID1B	157547258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.793000	0.96121	0.655000	0.94253	CCT		0.632	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		37	183	1	0	1.90571e-15	1	2.08261e-15	37	183				
WNT5B	81029	broad.mit.edu	37	12	1741887	1741887	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1741887C>T	ENST00000397196.2	+	3	376	c.144C>T	c.(142-144)tgC>tgT	p.C48C	WNT5B_ENST00000542408.1_Silent_p.C48C|WNT5B_ENST00000310594.3_Silent_p.C48C|WNT5B_ENST00000537031.1_Silent_p.C48C	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	48					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCCCGTGTGCAGTCAGCTTC	0.567																																						ENST00000397196.2																			0				skin(1)	1						c.(142-144)tgC>tgT		wingless-type MMTV integration site family, member 5B							100.0	104.0	102.0					12																	1741887		2203	4300	6503	SO:0001819	synonymous_variant	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1741887C>T	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.144C>T	12.37:g.1741887C>T						WNT5B_ENST00000310594.3_Silent_p.C48C|WNT5B_ENST00000542408.1_Silent_p.C48C|WNT5B_ENST00000537031.1_Silent_p.C48C	p.C48C	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	376	+	Ovarian(42;0.107)		48					A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	c.144C>T	CCDS8510.1																																																																																				0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			117	715	0	0	0	1	0	117	715				
SORBS2	8470	broad.mit.edu	37	4	186545525	186545525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186545525G>A	ENST00000284776.7	-	13	1555	c.1046C>T	c.(1045-1047)cCa>cTa	p.P349L	SORBS2_ENST00000355634.5_Missense_Mutation_p.P449L|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|SORBS2_ENST00000431808.1_Missense_Mutation_p.P349L|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	349					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATGGCTCTTGGTGAGTCCCG	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1045-1047)cCa>cTa		sorbin and SH3 domain containing 2							72.0	73.0	73.0					4																	186545525		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545525G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1046C>T	4.37:g.186545525G>A	ENSP00000284776:p.Pro349Leu					SORBS2_ENST00000355634.5_Missense_Mutation_p.P449L|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P349L|SORBS2_ENST00000393528.3_Intron	p.P349L			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1609	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	349					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1046C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	3.587	-0.084326	0.07097	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.33654	1.5;1.5;1.4;1.5	5.87	-2.43	0.06522	.	0.719070	0.14393	N	0.322388	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B;B;B	0.20887	0.013;0.049;0.028	B;B;B	0.12837	0.006;0.008;0.008	T	0.13872	-1.0493	10	0.48119	T	0.1	-1.8135	6.9316	0.24444	0.1099:0.0964:0.6321:0.1616	.	253;449;349	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	L	349;349;253;449	ENSP00000284776:P349L;ENSP00000411764:P349L;ENSP00000397482:P253L;ENSP00000347852:P449L	ENSP00000284776:P349L	P	-	2	0	SORBS2	186782519	0.672000	0.27530	0.002000	0.10522	0.026000	0.11368	0.538000	0.23160	-0.343000	0.08351	-0.538000	0.04264	CCA		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		34	338	0	0	0	1	0	34	338				
PCDHB6	56130	broad.mit.edu	37	5	140531873	140531873	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531873G>T	ENST00000231136.1	+	1	2035	c.2035G>T	c.(2035-2037)Gcc>Tcc	p.A679S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	679					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAAGCCCAGGCCGA	0.697																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2035-2037)Gcc>Tcc									67.0	73.0	71.0					5																	140531873		2189	4274	6463	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531873G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2035G>T	5.37:g.140531873G>T	ENSP00000231136:p.Ala679Ser					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	p.A679S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2035	+			679					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2035G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837250	0.16891	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.52754	0.65;0.69	4.55	1.51	0.23008	.	.	.	.	.	T	0.37999	0.1024	L	0.60067	1.865	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.42832	-0.9428	9	0.66056	D	0.02	.	1.634	0.02738	0.2053:0.1642:0.4627:0.1677	.	679	Q9Y5E3	PCDB6_HUMAN	S	543;679	ENSP00000438466:A543S;ENSP00000231136:A679S	ENSP00000231136:A679S	A	+	1	0	PCDHB6	140512057	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	0.139000	0.16036	0.397000	0.25310	0.556000	0.70494	GCC		0.697	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		185	848	1	0	3.14303e-62	1	3.96095e-62	185	848				
LRBA	987	broad.mit.edu	37	4	151837610	151837610	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151837610T>C	ENST00000357115.3	-	7	1080	c.837A>G	c.(835-837)atA>atG	p.I279M	LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000535741.1_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	279						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTTTGACTTTATTGATGTTA	0.343																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(835-837)atA>atG		LPS-responsive vesicle trafficking, beach and anchor containing							71.0	66.0	68.0					4																	151837610		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151837610T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.837A>G	4.37:g.151837610T>C	ENSP00000349629:p.Ile279Met					LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000357115.3_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M	p.I279M			P50851	LRBA_HUMAN			7	1310	-	all_hematologic(180;0.151)		279					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.837A>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626892	0.28978	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.24	0.50183	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.063284	0.64402	D	0.000006	T	0.64249	0.2581	N	0.03608	-0.345	0.39855	D	0.973295	P;D;P	0.53619	0.934;0.961;0.573	P;D;B	0.63283	0.789;0.913;0.392	T	0.63042	-0.6725	10	0.23302	T	0.38	.	8.4306	0.32755	0.1305:0.0:0.1366:0.733	.	279;279;279	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	M	279	ENSP00000446299:I279M;ENSP00000421552:I279M;ENSP00000349629:I279M;ENSP00000422180:I279M	ENSP00000349629:I279M	I	-	3	3	LRBA	152057060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.715000	0.37971	0.974000	0.38366	0.374000	0.22700	ATA		0.343	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			7	155	0	0	0	1	0	7	155				
TRIM40	135644	broad.mit.edu	37	6	30114887	30114887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30114887G>A	ENST00000396581.1	+	4	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	189					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597																																						ENST00000396581.1																			0				ovary(1)	1						c.(565-567)gcG>gcA		tripartite motif containing 40							76.0	68.0	71.0					6																	30114887		2203	4300	6503	SO:0001819	synonymous_variant	135644					intracellular	zinc ion binding	g.chr6:30114887G>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.567G>A	6.37:g.30114887G>A						TRIM40_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A	p.A189A			Q6P9F5	TRI40_HUMAN			4	953	+			189					Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	ENST00000396581.1	37	c.567G>A																																																																																					0.597	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			72	264	0	0	0	1	0	72	264				
SLC3A1	6519	broad.mit.edu	37	2	44508543	44508543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44508543G>A	ENST00000260649.6	+	3	704	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SLC3A1_ENST00000409387.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	210					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ATTAATCATCGATTTCATACC	0.348																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(628-630)Gat>Aat		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						77.0	75.0	76.0					2																	44508543		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44508543G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.628G>A	2.37:g.44508543G>A	ENSP00000260649:p.Asp210Asn					SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D210N	p.D210N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			3	704	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	210					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.628G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907315	0.72868	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99960	-9.19;-9.19;-7.36;-9.19;-9.19	4.19	4.19	0.49359	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.054621	0.64402	N	0.000001	D	0.99971	0.9990	H	0.98701	4.305	0.80722	D	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	0.999;0.999;1.0;0.999;0.998	D	0.96864	0.9634	10	0.62326	D	0.03	-12.8222	17.147	0.86768	0.0:0.0:1.0:0.0	.	210;210;210;210;210	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	N	210;210;146;210;210;210;210	ENSP00000260649:D210N;ENSP00000387308:D210N;ENSP00000387337:D210N;ENSP00000386954:D210N;ENSP00000386620:D210N	ENSP00000260649:D210N	D	+	1	0	SLC3A1	44362047	1.000000	0.71417	0.952000	0.39060	0.467000	0.32768	9.024000	0.93689	2.323000	0.78572	0.551000	0.68910	GAT		0.348	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		65	236	0	0	0	1	0	65	236				
GSPT1	2935	broad.mit.edu	37	16	11967016	11967016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11967016G>A	ENST00000563468.1	-	13	1486	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|GSPT1_ENST00000434724.2_Missense_Mutation_p.A625V|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V			P15170	ERF3A_HUMAN	G1 to S phase transition 1	487					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTCCAATTGCAATGGTCTT	0.308																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1873-1875)gCa>gTa		G1 to S phase transition 1							141.0	140.0	140.0					16																	11967016		1873	4112	5985	SO:0001583	missense	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11967016G>A	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1460C>T	16.37:g.11967016G>A	ENSP00000454351:p.Ala487Val					GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V|GSPT1_ENST00000563468.1_Missense_Mutation_p.A487V	p.A625V	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			15	2073	-			487					J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	c.1874C>T	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450010	0.84101	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.59906	0.54;0.55;0.23	5.54	5.54	0.83059	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.83487	0.5265	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.68039	0.955;0.955;0.935	D	0.88726	0.3233	10	0.87932	D	0	-19.6359	18.0661	0.89391	0.0:0.0:1.0:0.0	.	624;621;487	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	V	625;624;487	ENSP00000398131:A625V;ENSP00000408399:A624V;ENSP00000399539:A487V	ENSP00000399539:A487V	A	-	2	0	GSPT1	11874517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.400000	0.97290	2.605000	0.88082	0.591000	0.81541	GCA		0.308	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		85	483	0	0	0	1	0	85	483				
GON4L	54856	broad.mit.edu	37	1	155783530	155783530	+	Silent	SNP	C	C	T	rs368634028		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155783530C>T	ENST00000368331.1	-	10	1395	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	449	Poly-Pro.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGAGGGGGCGGGGGCCCCA	0.517																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(1345-1347)ccG>ccA		gon-4-like (C. elegans)		C	,	1,4405	2.1+/-5.4	0,1,2202	66.0	62.0	64.0		1347,1347	-8.9	0.2	1		64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GON4L	NM_001037533.1,NM_032292.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	449/2241,449/1530	155783530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155783530C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1347G>A	1.37:g.155783530C>T						GON4L_ENST00000368331.1_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P|GON4L_ENST00000471341.1_5'UTR	p.P449P			Q3T8J9	GON4L_HUMAN			10	1469	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		449			Poly-Pro.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.1347G>A																																																																																					0.517	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		76	229	0	0	0	1	0	76	229				
AIM1	202	broad.mit.edu	37	6	106968895	106968895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106968895G>A	ENST00000369066.3	+	2	3075	c.2588G>A	c.(2587-2589)aGt>aAt	p.S863N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACGGCTTTCAGTACTTCTCAG	0.448																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2587-2589)aGt>aAt		absent in melanoma 1							71.0	74.0	73.0					6																	106968895		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968895G>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2588G>A	6.37:g.106968895G>A	ENSP00000358062:p.Ser863Asn						p.S863N	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3075	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	863					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2588G>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596516	0.46318	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72615	-0.67	5.99	5.12	0.69794	.	1.354340	0.04133	N	0.318282	T	0.51958	0.1705	L	0.57536	1.79	0.80722	D	1	P	0.38922	0.651	B	0.29785	0.107	T	0.54289	-0.8316	10	0.44086	T	0.13	.	10.16	0.42847	0.1977:0.0:0.8023:0.0	.	863	Q9Y4K1	AIM1_HUMAN	N	1271;863	ENSP00000358062:S863N	ENSP00000285105:S1271N	S	+	2	0	AIM1	107075588	1.000000	0.71417	0.972000	0.41901	0.967000	0.64934	1.573000	0.36472	1.544000	0.49359	0.655000	0.94253	AGT		0.448	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			83	317	0	0	0	1	0	83	317				
NCOR2	9612	broad.mit.edu	37	12	124885145	124885145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885145G>A	ENST00000405201.1	-	15	1715	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V	NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000356219.3_Missense_Mutation_p.A572V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	572					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGGCTGTTGGCAGTTTTGCG	0.617																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1714-1716)gCc>gTc		nuclear receptor corepressor 2							163.0	143.0	149.0					12																	124885145		1963	4154	6117	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124885145G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1715C>T	12.37:g.124885145G>A	ENSP00000384018:p.Ala572Val					NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A572V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V	p.A572V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	16	1870	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		572					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.1715C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506717	0.64410	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.994;0.994;0.997	T	0.60271	-0.7296	10	0.87932	D	0	-31.0363	18.5739	0.91147	0.0:0.0:1.0:0.0	.	571;572;572	C9J0Q5;C9J239;C9JFD3	.;.;.	V	572;571;572;572;572;142;571;572	ENSP00000384018:A572V;ENSP00000384202:A571V;ENSP00000348551:A572V;ENSP00000380513:A572V;ENSP00000385618:A142V;ENSP00000400281:A571V;ENSP00000402808:A572V	ENSP00000348551:A572V	A	-	2	0	NCOR2	123451098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.215000	0.95146	2.382000	0.81193	0.491000	0.48974	GCC		0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		157	744	0	0	0	1	0	157	744				
TAS2R60	338398	broad.mit.edu	37	7	143140633	143140633	+	Missense_Mutation	SNP	G	G	A	rs199511246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143140633G>A	ENST00000332690.1	+	1	88	c.88G>A	c.(88-90)Gta>Ata	p.V30I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	30					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTTACGCCTGGTAGCAATAGC	0.488																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(88-90)Gta>Ata		taste receptor, type 2, member 60							243.0	221.0	228.0					7																	143140633		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140633G>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.88G>A	7.37:g.143140633G>A	ENSP00000327724:p.Val30Ile					EPHA1-AS1_ENST00000429289.1_RNA	p.V30I	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	88	+	Melanoma(164;0.172)		30					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.88G>A	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989567	0.18966	.	.	ENSG00000185899	ENST00000332690	T	0.38722	1.12	5.68	0.57	0.17347	.	0.678333	0.13091	U	0.414543	T	0.24624	0.0597	L	0.28504	0.86	0.09310	N	0.999999	B	0.31413	0.322	B	0.37550	0.253	T	0.23797	-1.0178	10	0.08381	T	0.77	.	1.7473	0.02964	0.2404:0.1384:0.4789:0.1424	.	30	P59551	T2R60_HUMAN	I	30	ENSP00000327724:V30I	ENSP00000327724:V30I	V	+	1	0	TAS2R60	142850755	0.034000	0.19679	0.022000	0.16811	0.019000	0.09904	0.535000	0.23114	0.045000	0.15804	0.655000	0.94253	GTA		0.488	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			55	730	0	0	0	1	0	55	730				
NCOA1	8648	broad.mit.edu	37	2	24991146	24991146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24991146C>T	ENST00000406961.1	+	23	4864	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G	NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000348332.3_Silent_p.G1404G|NCOA1_ENST00000405141.1_3'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1404					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.G1404G(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGGTAGGCGGGGACCCTT	0.557			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000406961.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	1	Substitution - coding silent(1)	p.G1404G(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(4210-4212)ggC>ggT		nuclear receptor coactivator 1							100.0	101.0	100.0					2																	24991146		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24991146C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4212C>T	2.37:g.24991146C>T						NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000348332.3_Silent_p.G1404G|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR	p.G1404G			Q15788	NCOA1_HUMAN			23	4864	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1404					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.4212C>T	CCDS1712.1																																																																																				0.557	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		93	509	0	0	0	1	0	93	509				
MUC16	94025	broad.mit.edu	37	19	9067822	9067822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9067822T>C	ENST00000397910.4	-	3	19827	c.19624A>G	c.(19624-19626)Act>Gct	p.T6542A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6544	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGTGAAGTCAGATGAACA	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19624-19626)Act>Gct		mucin 16, cell surface associated							85.0	78.0	80.0					19																	9067822		1935	4119	6054	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067822T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19624A>G	19.37:g.9067822T>C	ENSP00000381008:p.Thr6542Ala						p.T6542A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	19827	-			6544			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19624A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.252	-0.371374	0.05034	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	0.691	0.691	0.18045	.	.	.	.	.	T	0.37019	0.0988	L	0.52573	1.65	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.52260	-0.8599	7	0.87932	D	0	.	.	.	.	.	6542	B5ME49	.	A	6542	ENSP00000381008:T6542A	ENSP00000381008:T6542A	T	-	1	0	MUC16	8928822	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.860000	0.04272	0.568000	0.29311	0.149000	0.16113	ACT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	140	0	0	0	1	0	35	140				
RCC2	55920	broad.mit.edu	37	1	17749218	17749218	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17749218T>G	ENST00000375436.4	-	5	825	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	213					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGCCAAGGTGTGGTTCCGCCC	0.602																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(637-639)cAc>cCc		regulator of chromosome condensation 2							108.0	88.0	95.0					1																	17749218		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17749218T>G		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.638A>C	1.37:g.17749218T>G	ENSP00000364585:p.His213Pro					RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	p.H213P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	5	825	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	213					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.638A>C	CCDS181.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150176	0.78001	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.92048	-2.96;-2.96	5.1	5.1	0.69264	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	H	0.98466	4.24	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98922	1.0784	10	0.87932	D	0	-27.7457	14.0094	0.64486	0.0:0.0:0.0:1.0	.	213	Q9P258	RCC2_HUMAN	P	213	ENSP00000364585:H213P;ENSP00000364582:H213P	ENSP00000364582:H213P	H	-	2	0	RCC2	17621805	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.884000	0.87274	2.059000	0.61396	0.454000	0.30748	CAC		0.602	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		47	258	0	0	0	1	0	47	258				
RNF123	63891	broad.mit.edu	37	3	49742976	49742976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49742976G>T	ENST00000327697.6	+	24	2312	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	723					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTTGAAGGCAGCCACTGGAAT	0.642																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2167-2169)aGc>aTc		ring finger protein 123							33.0	35.0	35.0					3																	49742976		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49742976G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2168G>T	3.37:g.49742976G>T	ENSP00000328287:p.Ser723Ile					RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	p.S723I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	24	2312	+			723					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.2168G>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196140	0.38806	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.77098	-0.75;-1.07	5.46	2.71	0.32032	.	0.382752	0.28933	N	0.013663	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P;B	0.41265	0.744;0.089	B;B	0.34038	0.174;0.037	T	0.49011	-0.8983	10	0.40728	T	0.16	-13.4445	5.2758	0.15649	0.3055:0.1404:0.5541:0.0	.	577;723	C9J266;Q5XPI4	.;RN123_HUMAN	I	723;723;577	ENSP00000328287:S723I;ENSP00000392443:S577I	ENSP00000328287:S723I	S	+	2	0	RNF123	49717980	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.783000	0.47766	0.678000	0.31325	-0.258000	0.10820	AGC		0.642	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		47	218	1	0	1.19451e-25	1	1.37202e-25	47	218				
GON4L	54856	broad.mit.edu	37	1	155732150	155732150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155732150G>A	ENST00000368331.1	-	23	4790	c.4742C>T	c.(4741-4743)gCt>gTt	p.A1581V	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1581					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTTCCAGCAGCTTTGATGCT	0.542																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4741-4743)gCt>gTt		gon-4-like (C. elegans)							60.0	58.0	59.0					1																	155732150		1991	4171	6162	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155732150G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4742C>T	1.37:g.155732150G>A	ENSP00000357315:p.Ala1581Val					GON4L_ENST00000368331.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V	p.A1581V			Q3T8J9	GON4L_HUMAN			23	4864	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1581					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4742C>T		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522108	0.64747	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.12672	2.66;2.66;2.66	5.13	3.21	0.36854	.	0.280404	0.31123	N	0.008201	T	0.07954	0.0199	N	0.14661	0.345	0.30708	N	0.74962	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.85130	0.985;0.994;0.997	T	0.09143	-1.0688	10	0.59425	D	0.04	.	5.1678	0.15094	0.0779:0.1456:0.6255:0.1509	.	777;1581;1581	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	V	1581	ENSP00000396117:A1581V;ENSP00000357315:A1581V;ENSP00000271883:A1581V	ENSP00000271883:A1581V	A	-	2	0	GON4L	153998774	0.989000	0.36119	0.997000	0.53966	0.690000	0.40134	1.827000	0.39102	0.699000	0.31761	0.305000	0.20034	GCT		0.542	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		40	110	0	0	0	1	0	40	110				
ACOT12	134526	broad.mit.edu	37	5	80655779	80655779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80655779G>A	ENST00000307624.3	-	5	467	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	147					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R147*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTTGTAATCGAACTTTCCTT	0.313																																						ENST00000307624.3																			1	Substitution - Nonsense(1)	p.R147*(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(439-441)Cga>Tga		acyl-CoA thioesterase 12							132.0	129.0	130.0					5																	80655779		2203	4300	6503	SO:0001587	stop_gained	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80655779G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.439C>T	5.37:g.80655779G>A	ENSP00000303246:p.Arg147*					ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	p.R147*	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	5	467	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	147					B3KVK9|Q5FWE9	Nonsense_Mutation	SNP	ENST00000307624.3	37	c.439C>T	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121210	0.56613	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	.	.	.	5.04	3.07	0.35406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9079	13.1836	0.59668	0.0:0.0:0.7144:0.2856	.	.	.	.	X	147	.	ENSP00000303246:R147X	R	-	1	2	ACOT12	80691535	1.000000	0.71417	0.958000	0.39756	0.533000	0.34776	2.560000	0.45896	1.203000	0.43233	0.655000	0.94253	CGA		0.313	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		63	239	0	0	0	1	0	63	239				
GBP1	2633	broad.mit.edu	37	1	89520419	89520419	+	Silent	SNP	G	G	A	rs369920657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89520419G>A	ENST00000370473.4	-	10	1830	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	537					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGACCCTGTCGTTCTCCATCT	0.423																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(1609-1611)aaC>aaT		guanylate binding protein 1, interferon-inducible		G		0,4406		0,0,2203	304.0	305.0	304.0		1611	-2.8	0.0	1		304	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GBP1	NM_002053.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		537/593	89520419	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89520419G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1611C>T	1.37:g.89520419G>A						GBP1_ENST00000484970.1_5'UTR	p.N537N	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	10	1830	-		Lung NSC(277;0.123)	537					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.1611C>T	CCDS718.1																																																																																				0.423	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		83	1453	0	0	0	1	0	83	1453				
AHNAK	79026	broad.mit.edu	37	11	62291340	62291340	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291340G>T	ENST00000378024.4	-	5	10823	c.10549C>A	c.(10549-10551)Ctc>Atc	p.L3517I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3517					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATTGAGATCTGGGCCC	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10549-10551)Ctc>Atc		AHNAK nucleoprotein							103.0	107.0	106.0					11																	62291340		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291340G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10549C>A	11.37:g.62291340G>T	ENSP00000367263:p.Leu3517Ile					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3517I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10823	-		Melanoma(852;0.155)	3517					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10549C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.016	-1.538701	0.00942	.	.	ENSG00000124942	ENST00000378024	T	0.00642	6.02	4.81	-9.61	0.00550	.	.	.	.	.	T	0.00384	0.0012	N	0.04669	-0.19	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.49184	-0.8966	9	0.15499	T	0.54	.	13.4681	0.61268	0.0:0.5675:0.2339:0.1986	.	3517	Q09666	AHNK_HUMAN	I	3517	ENSP00000367263:L3517I	ENSP00000367263:L3517I	L	-	1	0	AHNAK	62047916	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	-3.861000	0.00348	-2.639000	0.00430	0.447000	0.29281	CTC		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		164	568	1	0	7.52437e-61	1	9.46778e-61	164	568				
KIF26B	55083	broad.mit.edu	37	1	245850027	245850027	+	Missense_Mutation	SNP	G	G	A	rs371194278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850027G>A	ENST00000407071.2	+	12	4182	c.3742G>A	c.(3742-3744)Gtc>Atc	p.V1248I	KIF26B_ENST00000366518.4_Missense_Mutation_p.V867I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1248					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACGGCCCCCGTCTCCGAGGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18867	0.0		0.0	False		,,,				2504	0.001					ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2599-2601)Gtc>Atc		kinesin family member 26B		G	ILE/VAL	0,4304		0,0,2152	31.0	37.0	35.0		3742	5.8	0.8	1		35	1,8499		0,1,4249	no	missense	KIF26B	NM_018012.3	29	0,1,6401	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	1248/2109	245850027	1,12803	2152	4250	6402	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850027G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3742G>A	1.37:g.245850027G>A	ENSP00000385545:p.Val1248Ile					KIF26B_ENST00000407071.2_Missense_Mutation_p.V1248I	p.V867I			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2703	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1248					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2599G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950125	0.34377	0.0	1.18E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.77	5.77	0.91146	.	.	.	.	.	T	0.69878	0.3160	L	0.40543	1.245	0.38325	D	0.943622	B;B	0.33379	0.41;0.123	B;B	0.17098	0.017;0.013	T	0.70219	-0.4932	9	0.37606	T	0.19	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	867;1248	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1248;867;864	ENSP00000385545:V1248I;ENSP00000355475:V867I	ENSP00000355475:V867I	V	+	1	0	KIF26B	243916650	1.000000	0.71417	0.777000	0.31699	0.274000	0.26718	5.310000	0.65780	2.744000	0.94065	0.561000	0.74099	GTC		0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		31	104	0	0	0	1	0	31	104				
CCNL1	57018	broad.mit.edu	37	3	156866190	156866190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156866190G>A	ENST00000295926.3	-	11	1539	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	474					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTTGCTCTGAGATCGAGAACG	0.453																																						ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(1420-1422)tCt>tTt		cyclin L1							272.0	250.0	258.0					3																	156866190		2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866190G>A	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1421C>T	3.37:g.156866190G>A	ENSP00000295926:p.Ser474Phe					CCNL1_ENST00000461804.1_Intron	p.S474F	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1539	-			474					B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1421C>T	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272501	0.59649	.	.	ENSG00000163660	ENST00000295926	T	0.24350	1.86	4.99	4.99	0.66335	.	0.226724	0.46442	D	0.000294	T	0.34164	0.0888	L	0.55213	1.73	0.80722	D	1	P	0.48911	0.917	P	0.46049	0.502	T	0.15665	-1.0429	10	0.59425	D	0.04	-9.688	18.6886	0.91574	0.0:0.0:1.0:0.0	.	474	Q9UK58	CCNL1_HUMAN	F	474	ENSP00000295926:S474F	ENSP00000295926:S474F	S	-	2	0	CCNL1	158348884	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.015000	0.88690	2.458000	0.83093	0.551000	0.68910	TCT		0.453	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		155	775	0	0	0	1	0	155	775				
PDE4D	5144	broad.mit.edu	37	5	58285692	58285692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58285692G>T	ENST00000340635.6	-	10	1517	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	448					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGAGTCATAAGATATGTAATT	0.333																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(1342-1344)Ctt>Att		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						110.0	112.0	111.0					5																	58285692		1882	4097	5979	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58285692G>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1342C>A	5.37:g.58285692G>T	ENSP00000345502:p.Leu448Ile					PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I	p.L448I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	10	1517	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	448					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1342C>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411307	0.62399	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.5	4.63	0.57726	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.65975	2.015	0.42555	D	0.993127	B;P;P;B;B;P;B;B	0.49783	0.013;0.928;0.897;0.405;0.405;0.897;0.008;0.008	B;D;D;B;B;D;B;B	0.70716	0.059;0.955;0.97;0.34;0.34;0.97;0.031;0.076	T	0.76860	-0.2803	10	0.33940	T	0.23	.	6.4503	0.21900	0.1786:0.1537:0.6677:0.0	.	387;448;384;311;326;318;223;157	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	I	448;317;312;384;146;157;318;326;387;387;146	ENSP00000345502:L448I;ENSP00000353152:L312I;ENSP00000424852:L384I;ENSP00000351800:L146I;ENSP00000321739:L157I;ENSP00000425605:L318I;ENSP00000384806:L326I;ENSP00000423094:L387I;ENSP00000442734:L387I;ENSP00000421013:L146I	ENSP00000321739:L157I	L	-	1	0	PDE4D	58321449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.215000	0.32431	1.523000	0.49018	0.655000	0.94253	CTT		0.333	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			16	204	1	0	0.000308642	1	0.000312942	16	204				
RBCK1	10616	broad.mit.edu	37	20	409726	409726	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:409726C>T	ENST00000356286.5	+	11	2145	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	RBCK1_ENST00000353660.3_Silent_p.R438R|RBCK1_ENST00000382181.2_Silent_p.R310R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	480					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGGGCCCACGCTGGGGCCCTG	0.637																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(1438-1440)cgC>cgT		RanBP-type and C3HC4-type zinc finger containing 1							34.0	39.0	37.0					20																	409726		2203	4300	6503	SO:0001819	synonymous_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:409726C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1440C>T	20.37:g.409726C>T						RBCK1_ENST00000382181.2_Silent_p.R310R|RBCK1_ENST00000353660.3_Silent_p.R438R	p.R480R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			11	2145	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	480					O95623|Q86SL2|Q96BS3|Q9BYM9	Silent	SNP	ENST00000356286.5	37	c.1440C>T	CCDS13000.2																																																																																				0.637	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		46	197	0	0	0	1	0	46	197				
MACROD1	28992	broad.mit.edu	37	11	63782725	63782725	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63782725G>A	ENST00000255681.6	-	4	612	c.546C>T	c.(544-546)ggC>ggT	p.G182G		NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	182	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding. {ECO:0000250}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TCCACTCACCGCCACCGCCTC	0.657																																						ENST00000255681.6																			0				breast(1)|large_intestine(3)|lung(6)|skin(1)	11						c.e4+1		MACRO domain containing 1							80.0	57.0	65.0					11																	63782725		2198	4295	6493	SO:0001630	splice_region_variant	28992							g.chr11:63782725G>A	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.547+1C>T	11.37:g.63782725G>A							p.G182_splice	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN			4	612	-			182			Macro.		Q9UH96	Splice_Site	SNP	ENST00000255681.6	37	c.547_splice	CCDS8056.1																																																																																				0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	Silent	21	70	0	0	0	1	0	21	70				
HHIPL1	84439	broad.mit.edu	37	14	100119188	100119188	+	Missense_Mutation	SNP	G	G	A	rs369676917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119188G>A	ENST00000330710.5	+	2	981	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	295					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGAACGCCGTGGACCACAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18884	0.0		0.001	False		,,,				2504	0.0					ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(883-885)Gtg>Atg		HHIP-like 1		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	29.0	30.0	30.0		883,883	4.6	1.0	14		30	0,8600		0,0,4300	no	missense,missense	HHIPL1	NM_001127258.1,NM_032425.4	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	295/783,295/609	100119188	1,13005	2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100119188G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.883G>A	14.37:g.100119188G>A	ENSP00000330601:p.Val295Met					HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	p.V295M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			2	981	+		Melanoma(154;0.128)	295					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.883G>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350023	0.61183	2.27E-4	0.0	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.12039	2.72;2.72	4.61	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.079955	0.51477	D	0.000094	T	0.40145	0.1105	M	0.85462	2.755	0.47819	D	0.999523	D;D	0.76494	0.999;0.995	D;P	0.69654	0.965;0.898	T	0.44620	-0.9316	10	0.72032	D	0.01	.	14.0064	0.64465	0.0:0.0:0.8484:0.1516	.	295;295	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	M	295	ENSP00000330601:V295M;ENSP00000349757:V295M	ENSP00000330601:V295M	V	+	1	0	HHIPL1	99188941	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	3.063000	0.49978	2.106000	0.64143	0.563000	0.77884	GTG		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		55	174	0	0	0	1	0	55	174				
PIF1	80119	broad.mit.edu	37	15	65112092	65112092	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65112092C>A	ENST00000268043.4	-	8	1381	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H|PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCACATCATCCTGGTGGGTGC	0.617																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(1285-1287)caG>caT		PIF1 5'-to-3' DNA helicase							68.0	60.0	62.0					15																	65112092		2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65112092C>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1287G>T	15.37:g.65112092C>A	ENSP00000268043:p.Gln429His					PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H|PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H	p.Q429H			Q9H611	PIF1_HUMAN			8	1381	-			429			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1287G>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884722	0.51908	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77489	-1.1;-1.1	5.62	4.7	0.59300	.	0.047074	0.85682	D	0.000000	T	0.79305	0.4423	L	0.36672	1.1	0.40223	D	0.977751	D	0.69078	0.997	D	0.64410	0.925	T	0.79245	-0.1883	10	0.48119	T	0.1	-29.2408	8.5208	0.33275	0.0:0.8264:0.0:0.1736	.	429	Q9H611	PIF1_HUMAN	H	429	ENSP00000268043:Q429H;ENSP00000328174:Q429H	ENSP00000268043:Q429H	Q	-	3	2	PIF1	62899145	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	0.885000	0.28227	1.379000	0.46325	0.655000	0.94253	CAG		0.617	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		18	373	1	0	6.94344e-10	1	7.33246e-10	18	373				
BAGE2	85319	broad.mit.edu	37	21	11039076	11039076	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11039076C>A	ENST00000470054.1	-	0	1127							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTTCAGAATCTTCTTTCTGT	0.393																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039076C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039076C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1127	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		58	2088	1	0	1.08312e-15	1	1.1851e-15	58	2088				
CNTLN	54875	broad.mit.edu	37	9	17394704	17394704	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17394704A>C	ENST00000380647.3	+	15	2336	c.2252A>C	c.(2251-2253)aAa>aCa	p.K751T	CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	751					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGGGGAGTAAAGATGTAGAA	0.363																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2251-2253)aAa>aCa		centlein, centrosomal protein							85.0	80.0	81.0					9																	17394704		1836	4103	5939	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17394704A>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2252A>C	9.37:g.17394704A>C	ENSP00000370021:p.Lys751Thr					CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T	p.K751T			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	15	2336	+			751					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.2252A>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.334863	0.01287	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18174	2.23;2.23;2.49	5.56	1.7	0.24286	.	.	.	.	.	T	0.09862	0.0242	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17667	0.023;0.021;0.021	B;B;B	0.13407	0.008;0.009;0.006	T	0.35624	-0.9781	9	0.27785	T	0.31	.	1.5427	0.02558	0.3752:0.1479:0.3343:0.1427	.	751;751;751	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	751	ENSP00000370021:K751T;ENSP00000392798:K751T;ENSP00000262360:K751T	ENSP00000262360:K751T	K	+	2	0	CNTLN	17384704	0.218000	0.23608	0.082000	0.20525	0.634000	0.38068	0.444000	0.21661	0.309000	0.22966	0.528000	0.53228	AAA		0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		68	237	0	0	0	1	0	68	237				
XPC	7508	broad.mit.edu	37	3	14190224	14190224	+	Missense_Mutation	SNP	C	C	A	rs377360172		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190224C>A	ENST00000285021.7	-	13	2472	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	AC093495.4_ENST00000428681.3_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.R716L|AC093495.4_ENST00000420253.1_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	753	Minimal sensor domain involved in damage recognition.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAACTCGTTCCGGGGCACCTG	0.602			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2257-2259)cGg>cTg	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							64.0	73.0	70.0					3																	14190224		2111	4218	6329	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14190224C>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2258G>T	3.37:g.14190224C>A	ENSP00000285021:p.Arg753Leu					XPC_ENST00000449060.2_Missense_Mutation_p.R716L	p.R753L	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			13	2472	-			753			Minimal sensor domain involved in damage recognition.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.2258G>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904535	0.92035	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.41400	1.0;1.04	5.65	5.65	0.86999	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.77281	-0.2646	10	0.87932	D	0	-25.7765	19.7205	0.96142	0.0:1.0:0.0:0.0	.	716;753	E9PH69;Q01831	.;XPC_HUMAN	L	753;716	ENSP00000285021:R753L;ENSP00000404002:R716L	ENSP00000285021:R753L	R	-	2	0	XPC	14165225	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	7.617000	0.83032	2.671000	0.90904	0.462000	0.41574	CGG		0.602	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		32	155	1	0	5.04308e-16	1	5.52873e-16	32	155				
PTCH1	5727	broad.mit.edu	37	9	98212127	98212127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98212127G>T	ENST00000331920.6	-	21	3844	c.3545C>A	c.(3544-3546)cCt>cAt	p.P1182H	PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P1116H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1182					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTGACCTCAGGATATGGTCC	0.537																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3346-3348)cCt>cAt		patched 1							98.0	85.0	89.0					9																	98212127		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98212127G>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3545C>A	9.37:g.98212127G>T	ENSP00000332353:p.Pro1182His					PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000331920.6_Missense_Mutation_p.P1182H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H	p.P1116H			Q13635	PTC1_HUMAN			21	3932	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1182					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3347C>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257690	0.80246	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90900	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	L	0.60455	1.87	0.80722	D	1	P;D;B	0.89917	0.767;1.0;0.409	P;D;B	0.74348	0.561;0.983;0.082	D	0.94148	0.7403	10	0.54805	T	0.06	-15.707	19.4381	0.94806	0.0:0.0:1.0:0.0	.	1116;1181;1182	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	1182;1116;1031;1031;1116;1031;1181	ENSP00000332353:P1182H;ENSP00000389744:P1116H;ENSP00000399981:P1031H;ENSP00000396135:P1031H;ENSP00000410287:P1116H;ENSP00000414823:P1031H;ENSP00000364423:P1181H	ENSP00000332353:P1182H	P	-	2	0	PTCH1	97251948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.606000	0.88127	0.561000	0.74099	CCT		0.537	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		36	141	1	0	3.76114e-14	1	4.07806e-14	36	141				
BRWD3	254065	broad.mit.edu	37	X	79945476	79945476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79945476G>A	ENST00000373275.4	-	32	3934	c.3718C>T	c.(3718-3720)Cga>Tga	p.R1240*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1240					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R1240*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAATAAATCGAAGTAAGACA	0.299																																						ENST00000373275.4																			1	Substitution - Nonsense(1)	p.R1240*(1)	endometrium(1)	breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3718-3720)Cga>Tga		bromodomain and WD repeat domain containing 3							83.0	70.0	74.0					X																	79945476		2203	4300	6503	SO:0001587	stop_gained	254065							g.chrX:79945476G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3718C>T	X.37:g.79945476G>A	ENSP00000362372:p.Arg1240*					BRWD3_ENST00000473691.1_5'UTR	p.R1240*	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			32	3934	-			1240					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.3718C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	44	11.213710	0.99531	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.44	3.55	0.40652	.	0.112392	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.701	13.0163	0.58759	0.0:0.0:0.8376:0.1624	.	.	.	.	X	1240	.	.	R	-	1	2	BRWD3	79832132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.343000	0.79319	0.932000	0.37266	0.594000	0.82650	CGA		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		36	134	0	0	0	1	0	36	134				
MYO15A	51168	broad.mit.edu	37	17	18051507	18051507	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18051507A>G	ENST00000205890.5	+	31	7012	c.6674A>G	c.(6673-6675)gAc>gGc	p.D2225G	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2225	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCGCTGGACGTGGGCTGC	0.672																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6673-6675)gAc>gGc		myosin XVA							30.0	34.0	32.0					17																	18051507		2118	4244	6362	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18051507A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6674A>G	17.37:g.18051507A>G	ENSP00000205890:p.Asp2225Gly						p.D2225G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			31	7012	+	all_neural(463;0.228)		2225			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6674A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276792	0.59758	.	.	ENSG00000091536	ENST00000205890	D	0.88431	-2.38	4.1	4.1	0.47936	.	.	.	.	.	D	0.91338	0.7268	M	0.66939	2.045	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	D	0.90939	0.4796	9	0.42905	T	0.14	.	12.9351	0.58309	1.0:0.0:0.0:0.0	.	2225	Q9UKN7	MYO15_HUMAN	G	2225	ENSP00000205890:D2225G	ENSP00000205890:D2225G	D	+	2	0	MYO15A	17992232	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	5.611000	0.67674	1.733000	0.51620	0.459000	0.35465	GAC		0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		40	234	0	0	0	1	0	40	234				
PLBD2	196463	broad.mit.edu	37	12	113825591	113825591	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113825591C>A	ENST00000280800.3	+	11	1513	c.1482C>A	c.(1480-1482)gcC>gcA	p.A494A	PLBD2_ENST00000545182.2_Silent_p.A462A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	494					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGTGCAAAGCCTGCAACCCCC	0.607																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1480-1482)gcC>gcA		phospholipase B domain containing 2							292.0	282.0	286.0					12																	113825591		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113825591C>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1482C>A	12.37:g.113825591C>A						PLBD2_ENST00000545182.2_Silent_p.A462A	p.A494A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			11	1513	+			494					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1482C>A	CCDS9168.1																																																																																				0.607	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		102	2362	1	0	3.11337e-16	1	3.41587e-16	102	2362				
RNF115	27246	broad.mit.edu	37	1	145663313	145663313	+	Missense_Mutation	SNP	G	G	A	rs148749353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145663313G>A	ENST00000369291.5	+	4	578	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CCATTGGGTCGGAGATACAGA	0.458																																						ENST00000369291.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(373-375)cGg>cAg		ring finger protein 115		G	GLN/ARG	0,4406		0,0,2203	99.0	93.0	95.0		374	2.1	0.9	1	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	missense	RNF115	NM_014455.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	125/305	145663313	2,13004	2203	4300	6503	SO:0001583	missense	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145663313G>A	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.374G>A	1.37:g.145663313G>A	ENSP00000358297:p.Arg125Gln						p.R125Q	NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN			4	578	+			125						Missense_Mutation	SNP	ENST00000369291.5	37	c.374G>A	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298000	0.23650	0.0	2.33E-4	ENSG00000121848	ENST00000369291	T	0.12361	2.69	5.14	2.14	0.27477	.	0.120515	0.53938	N	0.000056	T	0.01940	0.0061	N	0.08118	0	0.34876	D	0.744124	B	0.10296	0.003	B	0.04013	0.001	T	0.44559	-0.9320	10	0.27082	T	0.32	-4.4071	8.2455	0.31686	0.2735:0.0:0.7265:0.0	.	125	Q9Y4L5	RN115_HUMAN	Q	125	ENSP00000358297:R125Q	ENSP00000358297:R125Q	R	+	2	0	RNF115	144374670	1.000000	0.71417	0.921000	0.36526	0.519000	0.34347	2.408000	0.44574	0.288000	0.22398	0.655000	0.94253	CGG		0.458	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		33	387	0	0	0	1	0	33	387				
KCTD3	51133	broad.mit.edu	37	1	215793742	215793742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793742G>T	ENST00000259154.4	+	18	2524	c.2230G>T	c.(2230-2232)Gaa>Taa	p.E744*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	744					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGGTCATCAGAAGATGAAAA	0.378																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2230-2232)Gaa>Taa		potassium channel tetramerization domain containing 3							63.0	68.0	66.0					1																	215793742		2198	4297	6495	SO:0001587	stop_gained	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793742G>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2230G>T	1.37:g.215793742G>T	ENSP00000259154:p.Glu744*					KCTD3_ENST00000495537.1_3'UTR	p.E744*	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2524	+			744					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	37	c.2230G>T	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	41	9.094347	0.99064	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.81	4.9	0.64082	.	0.468579	0.24403	N	0.038832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.727	14.6228	0.68599	0.0697:0.0:0.9303:0.0	.	.	.	.	X	744	.	ENSP00000259154:E744X	E	+	1	0	KCTD3	213860365	1.000000	0.71417	0.819000	0.32651	0.993000	0.82548	8.169000	0.89672	1.456000	0.47831	0.655000	0.94253	GAA		0.378	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		114	399	1	0	9.42799e-54	1	1.17567e-53	114	399				
PIK3R4	30849	broad.mit.edu	37	3	130454718	130454718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130454718C>A	ENST00000356763.3	-	3	1419	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTACCAATTCTCTGATACTG	0.318																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(862-864)Gaa>Taa		phosphoinositide-3-kinase, regulatory subunit 4							119.0	127.0	124.0					3																	130454718		2203	4299	6502	SO:0001587	stop_gained	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130454718C>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.862G>T	3.37:g.130454718C>A	ENSP00000349205:p.Glu288*						p.E288*	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			3	1419	-			288			Protein kinase.		Q2TBF4	Nonsense_Mutation	SNP	ENST00000356763.3	37	c.862G>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	43	9.832098	0.99275	.	.	ENSG00000196455	ENST00000356763	.	.	.	5.48	5.48	0.80851	.	0.262537	0.42964	D	0.000632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-16.9242	15.2285	0.73369	0.0:0.8598:0.1402:0.0	.	.	.	.	X	288	.	ENSP00000349205:E288X	E	-	1	0	PIK3R4	131937408	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.138000	0.50570	2.732000	0.93576	0.591000	0.81541	GAA		0.318	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		66	295	1	0	9.04393e-38	1	1.08724e-37	66	295				
VWA3B	200403	broad.mit.edu	37	2	98709695	98709695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98709695G>A	ENST00000477737.1	+	2	344	c.140G>A	c.(139-141)aGc>aAc	p.S47N	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	47										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGCTTAAGAGCAACAAATTG	0.448																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(139-141)aGc>aAc		von Willebrand factor A domain containing 3B							128.0	119.0	122.0					2																	98709695		1969	4160	6129	SO:0001583	missense	200403							g.chr2:98709695G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.140G>A	2.37:g.98709695G>A	ENSP00000417955:p.Ser47Asn					VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N	p.S47N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			2	344	+			47					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.140G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469179	0.26423	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.38887	1.11;1.11	5.52	1.49	0.22878	.	0.364292	0.30446	N	0.009620	T	0.21103	0.0508	N	0.17474	0.49	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.16289	0.003;0.015	T	0.04347	-1.0958	10	0.25751	T	0.34	.	4.8174	0.13374	0.2586:0.3219:0.4195:0.0	.	47;47	Q502W6;Q502W6-8	VWA3B_HUMAN;.	N	47	ENSP00000401959:S47N;ENSP00000417955:S47N	ENSP00000411168:S47N	S	+	2	0	VWA3B	98076127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.157000	0.31724	0.419000	0.25927	0.650000	0.86243	AGC		0.448	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		58	567	0	0	0	1	0	58	567				
ANK1	286	broad.mit.edu	37	8	41561607	41561607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41561607G>A	ENST00000347528.4	-	20	2330	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	ANK1_ENST00000396942.1_Silent_p.I749I|ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I|ANK1_ENST00000379758.2_Silent_p.I749I|ANK1_ENST00000289734.7_Silent_p.I749I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	749	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGAGTCACGATGTCTGTGT	0.552																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2245-2247)atC>atT		ankyrin 1, erythrocytic							136.0	122.0	127.0					8																	41561607		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41561607G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2247C>T	8.37:g.41561607G>A						ANK1_ENST00000289734.7_Silent_p.I749I|ANK1_ENST00000347528.4_Silent_p.I749I|ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000379758.2_Silent_p.I749I	p.I749I			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		20	2330	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	749			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2247C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997392	0.02145	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52931	-0.8509	4	.	.	.	.	6.4693	0.21999	0.5719:0.0725:0.2188:0.1368	.	.	.	.	C	63	.	.	R	-	1	0	ANK1	41680764	0.000000	0.05858	0.062000	0.19696	0.002000	0.02628	-2.265000	0.01172	-2.763000	0.00369	-0.314000	0.08810	CGT		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		82	401	0	0	0	1	0	82	401				
DNAH11	8701	broad.mit.edu	37	7	21805045	21805045	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21805045G>A	ENST00000409508.3	+	55	8971		c.e55-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTCTCCACAGATCATTTTGT	0.483									Kartagener syndrome																													ENST00000328843.6																			1	Unknown(1)	p.?(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.e56-1		dynein, axonemal, heavy chain 11							168.0	162.0	164.0					7																	21805045		2022	4203	6225	SO:0001630	splice_region_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21805045G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8941-1G>A	7.37:g.21805045G>A						DNAH11_ENST00000409508.3_Splice_Site				Q96DT5	DYH11_HUMAN			56	8992	+								Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37			.	.	.	.	.	.	.	.	.	.	G	28.3	4.911606	0.92178	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21771570	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.582000	0.82546	2.719000	0.93026	0.555000	0.69702	.		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron	43	558	0	0	0	1	0	43	558				
IREB2	3658	broad.mit.edu	37	15	78780532	78780532	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78780532T>C	ENST00000258886.8	+	15	1954	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	602					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGTGATTTGGTTACCTGTGGA	0.343																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1804-1806)gTt>gCt		iron-responsive element binding protein 2							124.0	130.0	128.0					15																	78780532		2195	4293	6488	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78780532T>C	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1805T>C	15.37:g.78780532T>C	ENSP00000258886:p.Val602Ala						p.V602A	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	15	1954	+			602					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.1805T>C	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557804	0.65425	.	.	ENSG00000136381	ENST00000258886	T	0.44881	0.91	5.05	5.05	0.67936	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.175846	0.49305	D	0.000148	T	0.51432	0.1674	M	0.86178	2.8	0.80722	D	1	P	0.45569	0.861	B	0.42214	0.38	T	0.62006	-0.6945	10	0.54805	T	0.06	.	14.8033	0.69932	0.0:0.0:0.0:1.0	.	602	P48200	IREB2_HUMAN	A	602	ENSP00000258886:V602A	ENSP00000258886:V602A	V	+	2	0	IREB2	76567587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.807000	0.86032	1.905000	0.55150	0.528000	0.53228	GTT		0.343	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		91	433	0	0	0	1	0	91	433				
EFR3A	23167	broad.mit.edu	37	8	132982776	132982776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132982776G>A	ENST00000254624.5	+	10	1270	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I|EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	349						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.S348fs*15(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCGTCTCAGCGTTGAATTCGA	0.398																																						ENST00000254624.5																			1	Deletion - Frameshift(1)	p.S348fs*15(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1045-1047)Gtt>Att		EFR3 homolog A (S. cerevisiae)							100.0	93.0	95.0					8																	132982776		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132982776G>A	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1045G>A	8.37:g.132982776G>A	ENSP00000254624:p.Val349Ile					EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I|EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I	p.V349I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		10	1270	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		349					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1045G>A	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441885	0.83993	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.35048	1.33;1.33;1.34	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.43923	1.385	0.80722	D	1	P	0.35401	0.499	B	0.29785	0.107	T	0.05022	-1.0911	10	0.25751	T	0.34	-23.4206	18.4707	0.90773	0.0:0.0:1.0:0.0	.	349	Q14156	EFR3A_HUMAN	I	349;349;349;313	ENSP00000254624:V349I;ENSP00000334769:V349I;ENSP00000428086:V313I	ENSP00000254624:V349I	V	+	1	0	EFR3A	133051958	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.473000	0.97714	2.622000	0.88805	0.591000	0.81541	GTT		0.398	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		38	185	0	0	0	1	0	38	185				
TTN	7273	broad.mit.edu	37	2	179458402	179458402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458402G>A	ENST00000591111.1	-	248	53926	c.53702C>T	c.(53701-53703)tCt>tTt	p.S17901F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S19542F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17901	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AAGTAGTTTAGAAACTTTGCA	0.368																																						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.(58624-58626)tCt>tTt		titin							100.0	94.0	96.0					2																	179458402		1848	4092	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458402G>A	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.53702C>T	2.37:g.179458402G>A	ENSP00000465570:p.Ser17901Phe					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S17901F|TTN-AS1_ENST00000592689.1_RNA	p.S19542F	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)		298	58849	-			17901			Ig-like 109.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.58625C>T		.	.	.	.	.	.	.	.	.	.	G	13.45	2.239923	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63651	0.2529	L	0.47078	1.49	0.39337	D	0.965512	B;B;B;B	0.30793	0.295;0.295;0.295;0.295	B;B;B;B	0.41299	0.22;0.22;0.353;0.353	T	0.63976	-0.6515	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	10477;10602;10669;17901	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16974;10477;10669;10602;10475	ENSP00000343764:S16974F;ENSP00000434586:S10477F;ENSP00000340554:S10669F;ENSP00000352154:S10602F	ENSP00000340554:S10669F	S	-	2	0	TTN	179166648	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.769000	0.98969	2.857000	0.98124	0.650000	0.86243	TCT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	318	0	0	0	1	0	13	318				
RALGAPA2	57186	broad.mit.edu	37	20	20620538	20620538	+	Missense_Mutation	SNP	A	A	G	rs370779249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20620538A>G	ENST00000202677.7	-	7	564	c.557T>C	c.(556-558)aTa>aCa	p.I186T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	186					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTGGATATATCTTTACTGA	0.343																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(556-558)aTa>aCa		Ral GTPase activating protein, alpha subunit 2 (catalytic)		A	THR/ILE	0,3628		0,0,1814	97.0	90.0	92.0		557	5.7	1.0	20		92	1,8181		0,1,4090	no	missense	RALGAPA2	NM_020343.3	89	0,1,5904	GG,GA,AA		0.0122,0.0,0.0085	possibly-damaging	186/1874	20620538	1,11809	1814	4091	5905	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20620538A>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.557T>C	20.37:g.20620538A>G	ENSP00000202677:p.Ile186Thr						p.I186T	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			7	699	-			186					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.557T>C	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.27|14.27	2.484649|2.484649	0.44147|0.44147	0.0|0.0	1.22E-4|1.22E-4	ENSG00000188559|ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161|ENST00000430436	T;T;T|.	0.77098|.	-1.07;-1.07;-1.07|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.144833|.	0.64402|.	D|.	0.000006|.	T|T	0.71617|0.71617	0.3361|0.3361	M|M	0.62723|0.62723	1.935|1.935	0.44780|0.44780	D|D	0.99778|0.99778	P|.	0.44627|.	0.839|.	B|.	0.33454|.	0.164|.	T|T	0.70615|0.70615	-0.4823|-0.4823	10|5	0.51188|.	T|.	0.08|.	.|.	15.6105|15.6105	0.76713|0.76713	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	186|.	Q2PPJ7|.	RGPA2_HUMAN|.	T|H	186;38;38;186|3	ENSP00000202677:I186T;ENSP00000400901:I38T;ENSP00000412795:I186T|.	ENSP00000202677:I186T|.	I|Y	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20568538|20568538	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.501000|0.501000	0.33797|0.33797	8.502000|8.502000	0.90505|0.90505	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	ATA|TAT		0.343	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		90	375	0	0	0	1	0	90	375				
C9	735	broad.mit.edu	37	5	39341328	39341328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39341328A>C	ENST00000263408.4	-	4	491	c.396T>G	c.(394-396)gaT>gaG	p.D132E	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	132	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTCACAATCATCCTCATCTG	0.478																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(394-396)gaT>gaG		complement component 9							125.0	122.0	123.0					5																	39341328		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341328A>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.396T>G	5.37:g.39341328A>C	ENSP00000263408:p.Asp132Glu					C9_ENST00000509186.1_5'UTR	p.D132E	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	491	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	132			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263408.4	37	c.396T>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.382830	0.42207	.	.	ENSG00000113600	ENST00000263408	D	0.94966	-3.57	5.52	-2.54	0.06307	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.403256	0.29172	N	0.012922	D	0.85026	0.5603	N	0.04162	-0.26	0.09310	N	1	D	0.53619	0.961	P	0.50970	0.655	T	0.82456	-0.0448	10	0.15952	T	0.53	-22.6294	5.9416	0.19196	0.4123:0.2496:0.3381:0.0	.	132	P02748	CO9_HUMAN	E	132	ENSP00000263408:D132E	ENSP00000263408:D132E	D	-	3	2	C9	39377085	0.028000	0.19301	0.111000	0.21465	0.828000	0.46876	0.049000	0.14099	-0.180000	0.10637	0.460000	0.39030	GAT		0.478	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			45	509	0	0	0	1	0	45	509				
CHST2	9435	broad.mit.edu	37	3	142840537	142840537	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840537G>T	ENST00000309575.3	+	2	2263	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	293					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTTTCGAGGAGGAGTGCCGCA	0.662																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(877-879)gaG>gaT		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							25.0	26.0	25.0					3																	142840537		2197	4298	6495	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840537G>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.879G>T	3.37:g.142840537G>T	ENSP00000307911:p.Glu293Asp						p.E293D	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2263	+			293					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.879G>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592743	0.66219	.	.	ENSG00000175040	ENST00000309575	D	0.96554	-4.05	4.38	0.464	0.16706	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.96065	0.8718	L	0.53561	1.675	0.39569	D	0.969251	D	0.61080	0.989	D	0.64321	0.924	D	0.93768	0.7072	10	0.45353	T	0.12	-18.7552	8.4754	0.33009	0.3951:0.0:0.6049:0.0	.	293	Q9Y4C5	CHST2_HUMAN	D	293	ENSP00000307911:E293D	ENSP00000307911:E293D	E	+	3	2	CHST2	144323227	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	0.494000	0.22467	0.143000	0.18926	-0.481000	0.04817	GAG		0.662	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		18	57	1	0	1.67942e-08	1	1.75525e-08	18	57				
CACNA1E	777	broad.mit.edu	37	1	181620541	181620541	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181620541T>A	ENST00000367573.2	+	7	1019	c.1019T>A	c.(1018-1020)tTc>tAc	p.F340Y	CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	340					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTGGATCCTTCTTTGTTCTC	0.438																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1018-1020)tTc>tAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							198.0	189.0	192.0					1																	181620541		1925	4133	6058	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181620541T>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1019T>A	1.37:g.181620541T>A	ENSP00000356545:p.Phe340Tyr					CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F340Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y	p.F340Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			7	1184	+			340					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1019T>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090601	0.76756	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.86420	2.815	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.70487	0.969;0.969	D	0.99418	1.0932	10	0.56958	D	0.05	.	14.8892	0.70594	0.0:0.0:0.0:1.0	.	340;340	Q15878-2;Q15878-3	.;.	Y	340;340;340;291;291;340;340	ENSP00000432038:F340Y;ENSP00000356542:F340Y;ENSP00000434814:F340Y;ENSP00000350183:F291Y;ENSP00000351101:F291Y;ENSP00000353222:F340Y;ENSP00000356545:F340Y	ENSP00000350183:F291Y	F	+	2	0	CACNA1E	179887164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.062000	0.61559	0.460000	0.39030	TTC		0.438	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		77	437	0	0	0	1	0	77	437				
C3	718	broad.mit.edu	37	19	6694466	6694466	+	Missense_Mutation	SNP	C	C	T	rs146026441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694466C>T	ENST00000245907.6	-	24	3222	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1044					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCCAAGGCCCCCTGCCGCTTC	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3130-3132)Ggg>Agg		complement component 3							97.0	76.0	83.0					19																	6694466		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694466C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3130G>A	19.37:g.6694466C>T	ENSP00000245907:p.Gly1044Arg						p.G1044R	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3222	-			1044					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3130G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542636	0.13250	.	.	ENSG00000125730	ENST00000245907	T	0.34859	1.34	5.76	1.07	0.20283	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.658785	0.16479	N	0.212637	T	0.12008	0.0292	N	0.02225	-0.63	0.09310	N	1	B	0.32968	0.392	B	0.27887	0.084	T	0.16276	-1.0408	10	0.38643	T	0.18	.	5.8472	0.18673	0.0:0.5259:0.2595:0.2146	.	1044	P01024	CO3_HUMAN	R	1044	ENSP00000245907:G1044R	ENSP00000245907:G1044R	G	-	1	0	C3	6645466	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.841000	0.27613	0.062000	0.16340	0.650000	0.86243	GGG		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		56	313	0	0	0	1	0	56	313				
DARS	1615	broad.mit.edu	37	2	136673868	136673868	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136673868C>T	ENST00000264161.4	-	11	1249	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	DARS_ENST00000537273.1_Missense_Mutation_p.R245K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	345					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATATTCTAGTCTTAGAGTTGG	0.368																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(1033-1035)aGa>aAa		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						133.0	131.0	131.0					2																	136673868		2203	4300	6503	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673868C>T	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1034G>A	2.37:g.136673868C>T	ENSP00000264161:p.Arg345Lys					DARS_ENST00000537273.1_Missense_Mutation_p.R245K	p.R345K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1249	-			345					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.1034G>A	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478771	0.44044	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	D;D;D	0.86865	-1.51;-2.18;-1.51	5.43	5.43	0.79202	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	L	0.49350	1.555	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.78919	-0.2014	10	0.21014	T	0.42	-16.9407	19.6188	0.95647	0.0:1.0:0.0:0.0	.	345	P14868	SYDC_HUMAN	K	345;59;245	ENSP00000264161:R345K;ENSP00000387508:R59K;ENSP00000444192:R245K	ENSP00000264161:R345K	R	-	2	0	DARS	136390338	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.746000	0.68681	2.699000	0.92147	0.650000	0.86243	AGA		0.368	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		45	465	0	0	0	1	0	45	465				
ALDH3B2	222	broad.mit.edu	37	11	67433656	67433656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67433656G>T	ENST00000349015.3	-	6	694	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	86					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GGTCCGCCCAGCACCACGGCA	0.647																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(256-258)Ctg>Atg		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						82.0	84.0	83.0					11																	67433656		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433656G>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.256C>A	11.37:g.67433656G>T	ENSP00000255084:p.Leu86Met					ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	p.L86M	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			6	694	-			86					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.256C>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541846	0.45280	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	3.19	2.24	0.28232	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.980889	0.08310	N	0.965484	T	0.80226	0.4584	L	0.53561	1.675	0.23107	N	0.998288	P	0.48834	0.916	P	0.57620	0.824	T	0.65475	-0.6159	10	0.54805	T	0.06	.	3.3714	0.07222	0.226:0.0:0.5203:0.2536	.	86	P48448	AL3B2_HUMAN	M	86	ENSP00000431595:L86M;ENSP00000255084:L86M;ENSP00000433718:L86M;ENSP00000433466:L86M	ENSP00000255084:L86M	L	-	1	2	ALDH3B2	67190232	0.001000	0.12720	0.911000	0.35937	0.899000	0.52679	0.590000	0.23954	0.872000	0.35775	0.563000	0.77884	CTG		0.647	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		86	445	1	0	9.35349e-44	1	1.14279e-43	86	445				
PAPPA2	60676	broad.mit.edu	37	1	176760572	176760572	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176760572A>G	ENST00000367662.3	+	19	6138	c.4974A>G	c.(4972-4974)tcA>tcG	p.S1658S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1658	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCCTCAGAGCTGAATT	0.433																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4972-4974)tcA>tcG		pappalysin 2							85.0	84.0	85.0					1																	176760572		1896	4105	6001	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176760572A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4974A>G	1.37:g.176760572A>G							p.S1658S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			19	6138	+			1658			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4974A>G	CCDS41438.1																																																																																				0.433	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			72	309	0	0	0	1	0	72	309				
APEX1	328	broad.mit.edu	37	14	20922835	20922835	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20922835G>A	ENST00000216714.3	+	0	0				APEX1_ENST00000555414.1_5'Flank|APEX1_ENST00000398030.4_5'Flank|RP11-203M5.7_ENST00000555435.1_RNA|OSGEP_ENST00000206542.4_Missense_Mutation_p.A3V|OSGEP_ENST00000556252.1_5'UTR|APEX1_ENST00000557054.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	ACCCAGCACCGCCGGCATGGC	0.652								Other BER factors																														ENST00000206542.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(7-9)gCg>gTg		O-sialoglycoprotein endopeptidase							27.0	30.0	29.0					14																	20922835		2195	4285	6480	SO:0001631	upstream_gene_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20922835G>A	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20922835G>A	Exception_encountered					OSGEP_ENST00000556252.1_5'UTR	p.A3V	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	1	429	-	all_cancers(95;0.00123)	all_lung(585;0.235)	3					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.8C>T	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	G	9.341	1.063008	0.19987	.	.	ENSG00000092094	ENST00000206542;ENST00000553640;ENST00000488532	T;T	0.40476	1.04;1.03	5.65	4.76	0.60689	.	0.652897	0.16588	N	0.207884	T	0.13756	0.0333	N	0.00642	-1.3	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07597	-1.0764	10	0.31617	T	0.26	-4.1894	7.2917	0.26370	0.2415:0.0:0.7585:0.0	.	3	Q9NPF4	OSGEP_HUMAN	V	3	ENSP00000206542:A3V;ENSP00000450507:A3V	ENSP00000206542:A3V	A	-	2	0	OSGEP	19992675	0.029000	0.19370	0.630000	0.29268	0.997000	0.91878	2.455000	0.44988	1.633000	0.50488	0.655000	0.94253	GCG		0.652	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		12	341	0	0	0	1	0	12	341				
MKI67	4288	broad.mit.edu	37	10	129901952	129901952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129901952C>T	ENST00000368654.3	-	13	8527	c.8152G>A	c.(8152-8154)Gca>Aca	p.A2718T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2718	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGTGCTTGCTGTGGTGTCT	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8152-8154)Gca>Aca		marker of proliferation Ki-67							122.0	115.0	117.0					10																	129901952		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901952C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8152G>A	10.37:g.129901952C>T	ENSP00000357643:p.Ala2718Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	p.A2718T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	8527	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2718			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8152G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.194393	0.01594	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02085	4.46;4.46	3.48	-2.61	0.06171	.	.	.	.	.	T	0.00666	0.0022	N	0.00317	-1.655	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.001;0.003;0.006	T	0.48468	-0.9033	9	0.10377	T	0.69	.	8.1379	0.31064	0.0:0.4302:0.0:0.5698	.	2717;2358;2718	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	2718;2358;2717	ENSP00000357643:A2718T;ENSP00000357642:A2358T	ENSP00000357642:A2358T	A	-	1	0	MKI67	129791942	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.647000	0.00860	-0.473000	0.06871	-0.794000	0.03295	GCA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		104	508	0	0	0	1	0	104	508				
ZNF548	147694	broad.mit.edu	37	19	57909869	57909869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57909869A>G	ENST00000366197.5	+	3	464	c.214A>G	c.(214-216)Aca>Gca	p.T72A	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.4_ENST00000597658.1_Missense_Mutation_p.T75A|ZNF548_ENST00000336128.7_Missense_Mutation_p.T84A|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000597400.1_3'UTR	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCAGAGGTTACAGCTTCAAA	0.512																																						ENST00000366197.5																			0				breast(1)	1						c.(214-216)Aca>Gca		zinc finger protein 548							97.0	97.0	97.0					19																	57909869		2142	4282	6424	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57909869A>G	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.214A>G	19.37:g.57909869A>G	ENSP00000379482:p.Thr72Ala					AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000600421.1_Intron|AC003002.4_ENST00000597658.1_Missense_Mutation_p.75_75insA|ZNF548_ENST00000336128.7_Missense_Mutation_p.T84A|AC004076.7_ENST00000597410.1_Intron	p.T72A	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	464	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	72			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.214A>G	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	A	9.353	1.065906	0.20067	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.04970	3.52;3.52	3.25	3.25	0.37280	Krueppel-associated box (1);	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.46190	-0.9209	9	0.14656	T	0.56	.	5.164	0.15075	0.8649:0.0:0.1351:0.0	.	84;72	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	A	84;72	ENSP00000337555:T84A;ENSP00000379482:T72A	ENSP00000337555:T84A	T	+	1	0	ZNF548	62601681	0.000000	0.05858	0.014000	0.15608	0.006000	0.05464	0.041000	0.13927	1.500000	0.48636	0.377000	0.23210	ACA		0.512	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		63	335	0	0	0	1	0	63	335				
OR6K2	81448	broad.mit.edu	37	1	158669633	158669633	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669633G>T	ENST00000359610.2	-	1	853	c.810C>A	c.(808-810)ttC>ttA	p.F270L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTATATCCCAGAACAAAGAGT	0.423																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(808-810)ttC>ttA		olfactory receptor, family 6, subfamily K, member 2							103.0	99.0	101.0					1																	158669633		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669633G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.810C>A	1.37:g.158669633G>T	ENSP00000352626:p.Phe270Leu						p.F270L	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	853	-	all_hematologic(112;0.0378)		270					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.810C>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854524	0.17106	.	.	ENSG00000196171	ENST00000359610	T	0.00058	8.79	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000525	T	0.00039	0.0001	N	0.04820	-0.15	0.24203	N	0.995501	B	0.11235	0.004	B	0.20384	0.029	T	0.41360	-0.9513	10	0.28530	T	0.3	-14.1783	3.9631	0.09420	0.0876:0.1584:0.5905:0.1635	.	270	Q8NGY2	OR6K2_HUMAN	L	270	ENSP00000352626:F270L	ENSP00000352626:F270L	F	-	3	2	OR6K2	156936257	0.167000	0.22975	0.999000	0.59377	0.980000	0.70556	0.303000	0.19210	1.287000	0.44583	0.655000	0.94253	TTC		0.423	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		63	183	1	0	1.80625e-27	1	2.09175e-27	63	183				
FCHO1	23149	broad.mit.edu	37	19	17873639	17873639	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17873639G>A	ENST00000596536.1	+	5	379	c.96G>A	c.(94-96)gaG>gaA	p.E32E	FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000597512.1_Silent_p.E39E|FCHO1_ENST00000539407.1_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000595033.1_De_novo_Start_InFrame|FCHO1_ENST00000596951.1_Silent_p.E32E	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	32	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCACCAAGGAGCTGGCGGACT	0.597																																						ENST00000595033.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22								FCH domain only 1							104.0	90.0	95.0					19																	17873639		2203	4300	6503	SO:0001819	synonymous_variant	23149							g.chr19:17873639G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.96G>A	19.37:g.17873639G>A						FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000596951.1_Silent_p.E32E|FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000596536.1_Silent_p.E32E|FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000539407.1_Silent_p.E32E|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000597512.1_Silent_p.E39E		NM_001161359.1	NP_001154831.1	O14526	FCHO1_HUMAN			0	186	+								A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Translation_Start_Site	SNP	ENST00000596536.1	37		CCDS32955.1																																																																																				0.597	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		75	418	0	0	0	1	0	75	418				
PSMD11	5717	broad.mit.edu	37	17	30796059	30796059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30796059C>A	ENST00000261712.3	+	6	754	c.491C>A	c.(490-492)gCt>gAt	p.A164D	PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GACGACAAAGCTCTTTTGGTG	0.448																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(490-492)gCt>gAt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							78.0	78.0	78.0					17																	30796059		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30796059C>A	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.491C>A	17.37:g.30796059C>A	ENSP00000261712:p.Ala164Asp					PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		6	754	+		Breast(31;0.159)|Ovarian(249;0.182)	164					A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.491C>A	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261777	0.39995	.	.	ENSG00000108671	ENST00000261712	T	0.43294	0.95	5.65	5.65	0.86999	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.37507	1.11	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.17098	0.017;0.003	T	0.10730	-1.0617	10	0.11485	T	0.65	-6.4445	17.2626	0.87075	0.0:1.0:0.0:0.0	.	164;164	B4DTS5;O00231	.;PSD11_HUMAN	D	164	ENSP00000261712:A164D	ENSP00000261712:A164D	A	+	2	0	PSMD11	27820172	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.551000	0.82182	2.941000	0.99782	0.655000	0.94253	GCT		0.448	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		65	313	1	0	1.93348e-29	1	2.25966e-29	65	313				
SACS	26278	broad.mit.edu	37	13	23912282	23912282	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23912282C>T	ENST00000382292.3	-	9	6006	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	SACS_ENST00000382298.3_Silent_p.T1911T|SACS_ENST00000402364.1_Silent_p.T1161T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1911					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTCTCATGAACGTGGTATTCC	0.408																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5731-5733)acG>acA		spastic ataxia of Charlevoix-Saguenay (sacsin)							162.0	134.0	144.0					13																	23912282		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912282C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5733G>A	13.37:g.23912282C>T						SACS_ENST00000382292.3_Silent_p.T1911T|SACS_ENST00000402364.1_Silent_p.T1161T	p.T1911T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6321	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1911					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.5733G>A	CCDS9300.2																																																																																				0.408	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	334	0	0	0	1	0	7	334				
SYNE2	23224	broad.mit.edu	37	14	64519119	64519119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64519119G>T	ENST00000344113.4	+	48	8700	c.8488G>T	c.(8488-8490)Gaa>Taa	p.E2830*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2863*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E2830*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2830					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAGCAATTAGAATTTAAGTT	0.343																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8488-8490)Gaa>Taa		spectrin repeat containing, nuclear envelope 2							43.0	41.0	42.0					14																	64519119		1810	4083	5893	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519119G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8488G>T	14.37:g.64519119G>T	ENSP00000341781:p.Glu2830*					SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E2830*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2863*	p.E2830*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8718	+			2830					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.8488G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	50	16.124919	0.99855	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.543	0.50677	0.0821:0.0:0.9179:0.0	.	.	.	.	X	2830;2830;2863;2863	.	ENSP00000261678:E2863X	E	+	1	0	SYNE2	63588872	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	3.719000	0.54926	2.475000	0.83589	0.313000	0.20887	GAA		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		57	219	1	0	2.01807e-28	1	2.34828e-28	57	219				
DCHS1	8642	broad.mit.edu	37	11	6645358	6645358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6645358C>T	ENST00000299441.3	-	21	7960	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2517	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2517T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTCCACAGCGGCATGGCTG	0.632																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.A2517T(1)	endometrium(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7549-7551)Gct>Act		dachsous cadherin-related 1							27.0	28.0	28.0					11																	6645358		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645358C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7549G>A	11.37:g.6645358C>T	ENSP00000299441:p.Ala2517Thr						p.A2517T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	7960	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2517			Cadherin 24.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7549G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	0.279	-0.987492	0.02180	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	4.78	-3.44	0.04796	Cadherin (4);Cadherin-like (1);	0.801687	0.10522	N	0.664820	T	0.24236	0.0587	N	0.20766	0.605	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27706	-1.0066	10	0.13470	T	0.59	.	6.5608	0.22485	0.1193:0.4814:0.0:0.3993	.	2517	Q96JQ0	PCD16_HUMAN	T	2517	ENSP00000299441:A2517T	ENSP00000299441:A2517T	A	-	1	0	DCHS1	6601934	0.001000	0.12720	0.781000	0.31783	0.363000	0.29612	0.260000	0.18424	-0.169000	0.10834	0.462000	0.41574	GCT		0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		21	83	0	0	0	1	0	21	83				
SYNRG	11276	broad.mit.edu	37	17	35914119	35914119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35914119C>T	ENST00000339208.6	-	14	1846	c.1706G>A	c.(1705-1707)gGt>gAt	p.G569D	SYNRG_ENST00000394378.2_Missense_Mutation_p.G491D|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	569	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCGGTGAAACCATCATCAGT	0.398																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1705-1707)gGt>gAt		synergin, gamma							154.0	150.0	151.0					17																	35914119		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35914119C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1706G>A	17.37:g.35914119C>T	ENSP00000343610:p.Gly569Asp					SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D|SYNRG_ENST00000394378.2_Missense_Mutation_p.G491D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000588194.1_5'UTR	p.G569D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	1846	-			569			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1706G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863236	0.71949	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T	0.58652	0.89;1.43;0.32;0.34	6.08	6.08	0.98989	.	0.149646	0.64402	D	0.000011	T	0.74253	0.3692	L	0.59436	1.845	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	0.995;1.0;1.0;1.0;1.0;1.0	T	0.69749	-0.5061	10	0.39692	T	0.17	-18.8664	19.6516	0.95815	0.0:1.0:0.0:0.0	.	408;491;491;491;569;569	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	D	569;408;569;491;491	ENSP00000005279:G569D;ENSP00000343610:G408D;ENSP00000424893:G491D;ENSP00000377903:G491D	ENSP00000343610:G408D	G	-	2	0	SYNRG	32988232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	GGT		0.398	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		72	449	0	0	0	1	0	72	449				
TBX20	57057	broad.mit.edu	37	7	35293166	35293166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35293166C>T	ENST00000408931.3	-	1	592	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	22					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCGACATGAGCGCGGCAATGG	0.657																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(64-66)gcG>gcA		T-box 20							44.0	44.0	44.0					7																	35293166		2203	4300	6503	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35293166C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.66G>A	7.37:g.35293166C>T							p.A22A	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			1	592	-			22					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.66G>A	CCDS43568.1																																																																																				0.657	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		37	169	0	0	0	1	0	37	169				
HELZ2	85441	broad.mit.edu	37	20	62200677	62200677	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62200677G>A	ENST00000467148.1	-	4	981	c.912C>T	c.(910-912)ggC>ggT	p.G304G	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	304					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCCGCTCCACGCCAGGCACCA	0.706																																						ENST00000467148.1																			0											c.(910-912)ggC>ggT		helicase with zinc finger 2, transcriptional coactivator							19.0	20.0	20.0					20																	62200677		2185	4292	6477	SO:0001819	synonymous_variant	85441							g.chr20:62200677G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.912C>T	20.37:g.62200677G>A							p.G304G	NM_001037335.2	NP_001032412.2					4	981	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.912C>T	CCDS33508.1																																																																																				0.706	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		23	83	0	0	0	1	0	23	83				
FSHR	2492	broad.mit.edu	37	2	49195960	49195960	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:49195960A>G	ENST00000406846.2	-	9	850	c.731T>C	c.(730-732)cTg>cCg	p.L244P	FSHR_ENST00000304421.4_Missense_Mutation_p.L218P|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	244					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CCTGGCCCTCAGCTTCTTAAG	0.438									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(730-732)cTg>cCg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						84.0	81.0	82.0					2																	49195960		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49195960A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.731T>C	2.37:g.49195960A>G	ENSP00000384708:p.Leu244Pro					FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.L218P|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000469138.1_5'UTR	p.L244P	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	850	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	244					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.731T>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492369	0.84962	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	D;D	0.82711	-1.64;-1.64	5.45	5.45	0.79879	.	0.082955	0.50627	D	0.000101	D	0.93324	0.7872	H	0.94620	3.56	0.80722	D	1	D;D	0.76494	0.975;0.999	D;D	0.75484	0.916;0.986	D	0.94962	0.8109	9	.	.	.	.	14.8487	0.70281	1.0:0.0:0.0:0.0	.	218;244	Q05AH0;P23945	.;FSHR_HUMAN	P	244;218	ENSP00000384708:L244P;ENSP00000306780:L218P	.	L	-	2	0	FSHR	49049464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.288000	0.76882	0.533000	0.62120	CTG		0.438	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			6	320	0	0	0	1	0	6	320				
REST	5978	broad.mit.edu	37	4	57796731	57796731	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796731A>C	ENST00000309042.7	+	4	2021	c.1707A>C	c.(1705-1707)aaA>aaC	p.K569N		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	569	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGGAGAATAAAAAGCAAAATA	0.343																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1705-1707)aaA>aaC		RE1-silencing transcription factor							18.0	20.0	19.0					4																	57796731		2187	4290	6477	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796731A>C	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1707A>C	4.37:g.57796731A>C	ENSP00000311816:p.Lys569Asn						p.K569N	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2021	+	Glioma(25;0.08)|all_neural(26;0.181)		569			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1707A>C	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931575	0.52866	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.42513	0.97	5.59	-1.26	0.09376	.	0.631179	0.15334	N	0.267877	T	0.56673	0.2001	M	0.71581	2.175	0.47905	D	0.999548	D;D	0.76494	0.999;0.986	D;P	0.68192	0.956;0.843	T	0.58612	-0.7606	10	0.62326	D	0.03	-5.6695	10.1506	0.42791	0.6404:0.0:0.3596:0.0	.	546;569	F8WAN5;Q13127	.;REST_HUMAN	N	569;546	ENSP00000311816:K569N	ENSP00000311816:K569N	K	+	3	2	REST	57491488	0.997000	0.39634	0.279000	0.24732	0.478000	0.33099	0.618000	0.24373	-0.182000	0.10602	-0.366000	0.07423	AAA		0.343	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		8	141	0	0	0	1	0	8	141				
NTNG2	84628	broad.mit.edu	37	9	135073991	135073991	+	Silent	SNP	C	C	T	rs535593595	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073991C>T	ENST00000393229.3	+	3	1628	c.852C>T	c.(850-852)atC>atT	p.I284I	NTNG2_ENST00000393228.4_Silent_p.I284I|NTNG2_ENST00000360670.3_Silent_p.I284I|NTNG2_ENST00000372179.3_Silent_p.I284I	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	284	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCGAGGTCATCGGCAGGTAAG	0.587													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20902	0.0		0.0	False		,,,				2504	0.0					ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(850-852)atC>atT		netrin G2							25.0	29.0	27.0					9																	135073991		2181	4270	6451	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073991C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.852C>T	9.37:g.135073991C>T						NTNG2_ENST00000393228.4_Silent_p.I284I|NTNG2_ENST00000372179.3_Silent_p.I284I|NTNG2_ENST00000360670.3_Silent_p.I284I	p.I284I	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1628	+			284			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.852C>T	CCDS6946.1																																																																																				0.587	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		70	244	0	0	0	1	0	70	244				
ADAM10	102	broad.mit.edu	37	15	58889681	58889681	+	3'UTR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:58889681G>T	ENST00000260408.3	-	0	2755				ADAM10_ENST00000402627.1_Missense_Mutation_p.P64H|snoU13_ENST00000458913.1_RNA|ADAM10_ENST00000561288.1_Missense_Mutation_p.P31H|ADAM10_ENST00000396140.2_3'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10						cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGACTTAATAGGTTTCTCTTT	0.398																																						ENST00000402627.1																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(190-192)cCt>cAt		ADAM metallopeptidase domain 10																																				SO:0001624	3_prime_UTR_variant	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58889681G>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.*65C>A	15.37:g.58889681G>T						ADAM10_ENST00000396140.2_3'UTR|ADAM10_ENST00000260408.3_3'UTR|ADAM10_ENST00000561288.1_Missense_Mutation_p.P31H	p.P64H			O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	4	250	-			0					B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.191C>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674629	0.47781	.	.	ENSG00000137845	ENST00000402627	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.78685	0.4322	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80894	-0.1178	5	0.72032	D	0.01	.	18.9694	0.92709	0.0:0.0:1.0:0.0	.	.	.	.	H	64	.	ENSP00000386056:P64H	P	-	2	0	ADAM10	56676973	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.880000	0.69698	2.712000	0.92718	0.563000	0.77884	CCT		0.398	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		5	106	1	0	3.59834e-05	1	3.67436e-05	5	106				
ST8SIA1	6489	broad.mit.edu	37	12	22487118	22487118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22487118C>T	ENST00000396037.4	-	1	530	c.49G>A	c.(49-51)Gct>Act	p.A17T	ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	17					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGTACAGCCATGGCCCCT	0.701																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(49-51)Gct>Act		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							56.0	56.0	56.0					12																	22487118		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487118C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.49G>A	12.37:g.22487118C>T	ENSP00000379353:p.Ala17Thr					ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000539510.1_5'UTR	p.A17T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			1	530	-			17					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.49G>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315728	0.60524	.	.	ENSG00000111728	ENST00000396037;ENST00000404299;ENST00000381424	T	0.27256	1.68	4.39	4.39	0.52855	.	0.168872	0.41097	D	0.000955	T	0.28101	0.0693	L	0.44542	1.39	0.80722	D	1	P	0.51791	0.948	P	0.45610	0.487	T	0.07501	-1.0769	10	0.87932	D	0	-12.5297	14.6168	0.68556	0.0:1.0:0.0:0.0	.	17	Q92185	SIA8A_HUMAN	T	17	ENSP00000379353:A17T	ENSP00000261197:A17T	A	-	1	0	ST8SIA1	22378385	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.223000	0.42936	2.397000	0.81536	0.655000	0.94253	GCT		0.701	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		105	412	0	0	0	1	0	105	412				
THAP2	83591	broad.mit.edu	37	12	72070775	72070775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72070775C>T	ENST00000308086.2	+	3	2075	c.574C>T	c.(574-576)Cca>Tca	p.P192S	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	192						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACACATGTTACCAACTGCCTT	0.378																																						ENST00000308086.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						c.(574-576)Cca>Tca		THAP domain containing, apoptosis associated protein 2							88.0	81.0	83.0					12																	72070775		2203	4299	6502	SO:0001583	missense	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72070775C>T	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.574C>T	12.37:g.72070775C>T	ENSP00000310796:p.Pro192Ser					RP11-293I14.2_ENST00000548802.1_Intron	p.P192S	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN			3	2075	+			192					B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	c.574C>T	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503363	0.85176	.	.	ENSG00000173451	ENST00000308086	D	0.97232	-4.3	6.04	6.04	0.98038	.	0.000000	0.44902	D	0.000415	D	0.95831	0.8643	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93516	0.6857	10	0.12766	T	0.61	.	19.1586	0.93522	0.0:1.0:0.0:0.0	.	192	Q9H0W7	THAP2_HUMAN	S	192	ENSP00000310796:P192S	ENSP00000310796:P192S	P	+	1	0	THAP2	70357042	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.161000	0.50747	2.873000	0.98535	0.563000	0.77884	CCA		0.378	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		55	250	0	0	0	1	0	55	250				
APPL1	26060	broad.mit.edu	37	3	57294725	57294725	+	Missense_Mutation	SNP	C	C	T	rs576774339		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57294725C>T	ENST00000288266.3	+	19	1912	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	589	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ATTTGTTCTTCGGACATCAAG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		12955	0.0		0.001	False		,,,				2504	0.0					ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1765-1767)Cgg>Tgg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							197.0	194.0	195.0					3																	57294725		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57294725C>T	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1765C>T	3.37:g.57294725C>T	ENSP00000288266:p.Arg589Trp						p.R589W	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	19	1912	+			589			PID.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1765C>T	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810490	0.90707	.	.	ENSG00000157500	ENST00000288266	T	0.12255	2.7	5.37	5.37	0.77165	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.133459	0.51477	D	0.000085	T	0.30293	0.0760	L	0.54323	1.7	0.52501	D	0.999957	D;D	0.89917	0.999;1.0	P;P	0.62089	0.854;0.898	T	0.00912	-1.1517	10	0.87932	D	0	.	14.9148	0.70789	0.152:0.848:0.0:0.0	.	572;589	B4DQX8;Q9UKG1	.;DP13A_HUMAN	W	589	ENSP00000288266:R589W	ENSP00000288266:R589W	R	+	1	2	APPL1	57269765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.511000	0.84671	0.650000	0.86243	CGG		0.393	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		164	827	0	0	0	1	0	164	827				
ZNF124	7678	broad.mit.edu	37	1	247320502	247320502	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247320502T>G	ENST00000543802.2	-	4	511	c.422A>C	c.(421-423)cAg>cCg	p.Q141P	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.Q79P|ZNF124_ENST00000491848.1_5'UTR			Q15973	ZN124_HUMAN	zinc finger protein 124	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTGATTTCTCTGATGTATCTG	0.378																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(235-237)cAg>cCg		zinc finger protein 124							40.0	43.0	42.0					1																	247320502		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320502T>G	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.422A>C	1.37:g.247320502T>G	ENSP00000440365:p.Gln141Pro					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000543802.2_Missense_Mutation_p.Q141P	p.Q79P	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	374	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		141			KRAB.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.236A>C		.	.	.	.	.	.	.	.	.	.	T	8.726	0.915547	0.17907	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.18810	2.19	0.729	0.729	0.18266	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35189	0.0923	M	0.81112	2.525	0.20307	N	0.999911	D;P	0.57899	0.981;0.514	P;B	0.54924	0.764;0.03	T	0.13764	-1.0497	9	0.72032	D	0.01	.	5.6554	0.17640	0.0:0.0:0.0:1.0	.	141;79	Q15973;Q15973-4	ZN124_HUMAN;.	P	102;79;85;85	ENSP00000340749:Q79P	ENSP00000340749:Q79P	Q	-	2	0	ZNF124	245387125	0.064000	0.20934	0.009000	0.14445	0.546000	0.35178	0.514000	0.22786	0.553000	0.29044	0.260000	0.18958	CAG		0.378	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		80	189	0	0	0	1	0	80	189				
TAS2R40	259286	broad.mit.edu	37	7	142920107	142920107	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142920107C>T	ENST00000408947.3	+	1	978	c.936C>T	c.(934-936)caC>caT	p.H312H	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	312					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GGTTTCAGCACCAAGTTCCTC	0.537																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(934-936)caC>caT		taste receptor, type 2, member 40							53.0	52.0	52.0					7																	142920107		1895	4136	6031	SO:0001819	synonymous_variant	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142920107C>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.936C>T	7.37:g.142920107C>T							p.H312H	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	978	+	Melanoma(164;0.059)		312					A4D2I2|Q645W6	Silent	SNP	ENST00000408947.3	37	c.936C>T	CCDS43662.1																																																																																				0.537	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			67	249	0	0	0	1	0	67	249				
TCEB3B	51224	broad.mit.edu	37	18	44561072	44561072	+	Silent	SNP	C	C	T	rs529402856	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44561072C>T	ENST00000332567.4	-	1	916	c.564G>A	c.(562-564)gcG>gcA	p.A188A	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	188					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTCCCGGGCGCAGCGGGCT	0.692													C|||	2	0.000399361	0.0	0.0	5008	,	,		13156	0.002		0.0	False		,,,				2504	0.0					ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(562-564)gcG>gcA		transcription elongation factor B polypeptide 3B (elongin A2)							24.0	28.0	27.0					18																	44561072		2188	4282	6470	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561072C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.564G>A	18.37:g.44561072C>T						KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A188A	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	916	-			188					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.564G>A	CCDS11932.1																																																																																				0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		62	280	0	0	0	1	0	62	280				
DDX54	79039	broad.mit.edu	37	12	113603721	113603721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113603721C>T	ENST00000306014.5	-	13	1558	c.1531G>A	c.(1531-1533)Gtt>Att	p.V511I	DDX54_ENST00000314045.7_Missense_Mutation_p.V511I	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	511					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTATCAGCAACGCGGGCCAGG	0.662																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1531-1533)Gtt>Att		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							60.0	58.0	59.0					12																	113603721		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113603721C>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1531G>A	12.37:g.113603721C>T	ENSP00000304072:p.Val511Ile					DDX54_ENST00000306014.5_Missense_Mutation_p.V511I	p.V511I	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			13	1558	-			511					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.1531G>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895350	0.33442	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.14144	2.53;2.53	4.69	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.80028	2.48	0.53005	D	0.999967	P;P	0.45283	0.855;0.773	B;B	0.38020	0.263;0.135	T	0.08166	-1.0735	10	0.54805	T	0.06	.	12.58	0.56386	0.0:0.9185:0.0:0.0815	.	511;511	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	I	511	ENSP00000323858:V511I;ENSP00000304072:V511I	ENSP00000304072:V511I	V	-	1	0	DDX54	112088104	0.990000	0.36364	0.246000	0.24233	0.002000	0.02628	2.884000	0.48562	1.188000	0.43014	0.655000	0.94253	GTT		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		101	300	0	0	0	1	0	101	300				
RGS2	5997	broad.mit.edu	37	1	192778279	192778279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192778279C>T	ENST00000235382.5	+	1	109	c.78C>T	c.(76-78)agC>agT	p.S26S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	26					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCACAAGAGCGAGGAGAAGC	0.567																																					Pancreas(71;51 2183 4981)	ENST00000235382.5																			0				large_intestine(3)|lung(1)|urinary_tract(1)	5						c.(76-78)agC>agT		regulator of G-protein signaling 2, 24kDa							198.0	172.0	181.0					1																	192778279		2203	4300	6503	SO:0001819	synonymous_variant	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192778279C>T	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.78C>T	1.37:g.192778279C>T						RGS2_ENST00000483295.1_3'UTR	p.S26S	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN			1	109	+			26					Q6I9U5	Silent	SNP	ENST00000235382.5	37	c.78C>T	CCDS1377.1																																																																																				0.567	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		8	488	0	0	0	1	0	8	488				
INPP5F	22876	broad.mit.edu	37	10	121551041	121551041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551041C>T	ENST00000361976.2	+	4	494	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y|INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGTAAGAAGCATCATTTTGG	0.358																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(328-330)Cat>Tat		inositol polyphosphate-5-phosphatase F							107.0	112.0	110.0					10																	121551041		2203	4298	6501	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121551041C>T	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.328C>T	10.37:g.121551041C>T	ENSP00000354519:p.His110Tyr					INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y|INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y	p.H110Y	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	4	494	+		Lung NSC(174;0.109)|all_lung(145;0.142)	110					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.328C>T	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669097	0.88348	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T	0.59772	0.74;0.24	5.63	5.63	0.86233	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.71036	2.16	0.80722	D	1	P;D	0.67145	0.889;0.996	P;D	0.75484	0.651;0.986	T	0.76539	-0.2922	10	0.56958	D	0.05	-25.1659	20.0344	0.97551	0.0:1.0:0.0:0.0	.	110;110	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	Y	110;110;14	ENSP00000354519:H110Y;ENSP00000358079:H110Y	ENSP00000354519:H110Y	H	+	1	0	INPP5F	121541031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.803000	0.96430	0.650000	0.86243	CAT		0.358	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		71	354	0	0	0	1	0	71	354				
PNPLA7	375775	broad.mit.edu	37	9	140392624	140392624	+	Missense_Mutation	SNP	G	G	A	rs148776350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140392624G>A	ENST00000277531.4	-	16	1942	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R611W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	586					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGATTTGCCGCACGAAGGAC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19881	0.0		0.0	False		,,,				2504	0.0					ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1831-1833)Cgg>Tgg		patatin-like phospholipase domain containing 7		G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	154.0	116.0	129.0		1831,1756	2.2	1.0	9	dbSNP_134	129	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	101,101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	611/1343,586/1318	140392624	1,12999	2201	4299	6500	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140392624G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1756C>T	9.37:g.140392624G>A	ENSP00000277531:p.Arg586Trp					PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R586W	p.R611W	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	17	2167	-	all_cancers(76;0.126)		586					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1831C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974443	0.74246	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.4	2.19	0.27852	Cyclic nucleotide-binding-like (2);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70905	-0.4745	10	0.87932	D	0	-25.6295	11.2036	0.48756	0.0:0.0:0.6261:0.3739	.	611;586	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	W	192;586;611;586;577	ENSP00000360512:R192W;ENSP00000277531:R586W;ENSP00000384610:R611W;ENSP00000400582:R577W	ENSP00000277531:R586W	R	-	1	2	PNPLA7	139512445	0.016000	0.18221	1.000000	0.80357	0.983000	0.72400	0.023000	0.13533	0.859000	0.35456	0.448000	0.29417	CGG		0.627	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		65	332	0	0	0	1	0	65	332				
MON1B	22879	broad.mit.edu	37	16	77228807	77228807	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228807C>A	ENST00000248248.3	+	4	1401	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	MON1B_ENST00000545553.1_Missense_Mutation_p.L205M|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.L242M	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	351										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGTCTGCCTGCTGCTGCTTGG	0.637																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1051-1053)Ctg>Atg		MON1 secretory trafficking family member B							92.0	94.0	93.0					16																	77228807		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77228807C>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1051C>A	16.37:g.77228807C>A	ENSP00000248248:p.Leu351Met					MON1B_ENST00000545553.1_Missense_Mutation_p.L205M|MON1B_ENST00000439557.2_Missense_Mutation_p.L242M|MON1B_ENST00000320859.6_Intron	p.L351M	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	1401	+			351					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1051C>A	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248251	0.59103	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.53	3.49	0.39957	.	0.145145	0.44688	D	0.000439	T	0.68375	0.2994	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.67145	0.992;0.996;0.996;0.994	D;D;D;D	0.70935	0.94;0.971;0.964;0.94	T	0.66586	-0.5886	9	0.39692	T	0.17	.	10.4658	0.44607	0.0:0.6801:0.3198:0.0	.	205;242;231;351	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	M	351;242;205	.	ENSP00000248248:L351M	L	+	1	2	MON1B	75786308	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	0.901000	0.28445	2.456000	0.83038	0.563000	0.77884	CTG		0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		167	460	1	0	4.62547e-62	1	5.82772e-62	167	460				
NKTR	4820	broad.mit.edu	37	3	42672059	42672059	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42672059C>T	ENST00000232978.8	+	7	584	c.396C>T	c.(394-396)caC>caT	p.H132H	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	132	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTGCTCCACACCTGGATGGGT	0.453																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(394-396)caC>caT		natural killer-tumor recognition sequence							160.0	138.0	145.0					3																	42672059		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42672059C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.396C>T	3.37:g.42672059C>T						RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.H132H	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	7	584	+			132			PPIase cyclophilin-type.			Silent	SNP	ENST00000232978.8	37	c.396C>T	CCDS2702.1																																																																																				0.453	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		62	299	0	0	0	1	0	62	299				
FKBP4	2288	broad.mit.edu	37	12	2907877	2907877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2907877G>A	ENST00000001008.4	+	4	586	c.399G>A	c.(397-399)gaG>gaA	p.E133E	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	133	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CACAGGTGGAGTTGTTTGAGT	0.483																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(397-399)gaG>gaA		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						162.0	150.0	154.0					12																	2907877		2203	4300	6503	SO:0001819	synonymous_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2907877G>A	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.399G>A	12.37:g.2907877G>A						RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	p.E133E	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		4	586	+			133			PPIase FKBP-type 1.		D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	37	c.399G>A	CCDS8512.1																																																																																				0.483	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			105	515	0	0	0	1	0	105	515				
NTNG2	84628	broad.mit.edu	37	9	135117335	135117335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135117335G>A	ENST00000393229.3	+	8	2206	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y	NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y|NTNG2_ENST00000490694.1_3'UTR	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	477					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGCTGCGCCTGCCCGCGCGGC	0.761																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1429-1431)tGc>tAc		netrin G2							6.0	6.0	6.0					9																	135117335		1984	3955	5939	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135117335G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1430G>A	9.37:g.135117335G>A	ENSP00000376921:p.Cys477Tyr					NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y|NTNG2_ENST00000490694.1_3'UTR	p.C477Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	8	2206	+			477					Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.1430G>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370429	0.82573	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	D;D;D	0.99837	-7.06;-7.06;-7.06	3.5	3.5	0.40072	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99906	0.9955	H	0.99507	4.6	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95924	0.8933	10	0.87932	D	0	.	14.1615	0.65450	0.0:0.0:1.0:0.0	.	477	Q96CW9	NTNG2_HUMAN	Y	477;469;483	ENSP00000376921:C477Y;ENSP00000376920:C469Y;ENSP00000353888:C483Y	ENSP00000353888:C483Y	C	+	2	0	NTNG2	134107156	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	8.688000	0.91260	1.788000	0.52465	0.491000	0.48974	TGC		0.761	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		10	42	0	0	0	1	0	10	42				
ZNF33A	7581	broad.mit.edu	37	10	38343685	38343685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38343685G>T	ENST00000458705.2	+	5	788	c.630G>T	c.(628-630)aaG>aaT	p.K210N	ZNF33A_ENST00000374618.3_Missense_Mutation_p.K211N|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N			Q06730	ZN33A_HUMAN	zinc finger protein 33A	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCATGAGAAGATTCAAACTT	0.358																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(631-633)aaG>aaT		zinc finger protein 33A							84.0	83.0	84.0					10																	38343685		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343685G>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.630G>T	10.37:g.38343685G>T	ENSP00000387713:p.Lys210Asn					ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N|ZNF33A_ENST00000458705.2_Missense_Mutation_p.K210N|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N	p.K211N	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	811	+			210					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.633G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042204	0.35989	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.07327	3.2;3.23;3.23;3.23	2.26	0.11	0.14611	.	0.000000	0.34133	N	0.004228	T	0.10078	0.0247	L	0.58810	1.83	0.09310	N	1	P;P;B	0.49635	0.86;0.926;0.051	P;P;B	0.47075	0.536;0.454;0.067	T	0.13415	-1.0510	10	0.87932	D	0	.	4.2204	0.10554	0.1641:0.4812:0.3547:0.0	.	217;210;211	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	N	211;217;210;210	ENSP00000363747:K211N;ENSP00000402467:K217N;ENSP00000387713:K210N;ENSP00000304268:K210N	ENSP00000304268:K210N	K	+	3	2	ZNF33A	38383691	0.000000	0.05858	0.426000	0.26672	0.225000	0.24961	0.698000	0.25571	0.219000	0.20840	0.460000	0.39030	AAG		0.358	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		63	363	1	0	4.45325e-31	1	5.23636e-31	63	363				
SLC43A2	124935	broad.mit.edu	37	17	1519929	1519929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1519929G>A	ENST00000301335.5	-	3	383	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	SLC43A2_ENST00000571650.1_Missense_Mutation_p.L99F|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F|snoU13_ENST00000459614.1_RNA	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	99					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		ATGGCACTGAGCAGAAAGGAG	0.622																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(295-297)Ctc>Ttc		solute carrier family 43 (amino acid system L transporter), member 2							94.0	70.0	78.0					17																	1519929		2203	4300	6503	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1519929G>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.295C>T	17.37:g.1519929G>A	ENSP00000301335:p.Leu99Phe					SLC43A2_ENST00000301335.4_Missense_Mutation_p.L99F|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F	p.L99F			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	3	601	-			99					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.295C>T	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699104	0.88830	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	T;T	0.71817	-0.6;-0.6	4.36	4.36	0.52297	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.91635	0.999;0.95;0.994	T	0.77928	-0.2404	10	0.10377	T	0.69	-22.1218	18.2018	0.89840	0.0:0.0:1.0:0.0	.	99;99;99	Q8N370-2;Q8N370;Q8N370-3	.;LAT4_HUMAN;.	F	99	ENSP00000301335:L99F;ENSP00000371582:L99F	ENSP00000301335:L99F	L	-	1	0	SLC43A2	1466679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.715000	0.92844	0.655000	0.94253	CTC		0.622	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		5	199	0	0	0	1	0	5	199				
CLCN2	1181	broad.mit.edu	37	3	184072081	184072081	+	Missense_Mutation	SNP	G	G	A	rs145746859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184072081G>A	ENST00000265593.4	-	15	1700	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V|CLCN2_ENST00000434054.2_Missense_Mutation_p.A466V|CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	510					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGTGTCACCGCTCCTGCCAG	0.627											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1528-1530)gCg>gTg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	50.0	39.0	43.0		1478,1397,1529,1529	5.1	1.0	3	dbSNP_134	43	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	64,64,64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	493/882,466/855,510/870,510/899	184072081	2,13002	2202	4300	6502	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184072081G>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1529C>T	3.37:g.184072081G>A	ENSP00000265593:p.Ala510Val		OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|CLCN2_ENST00000434054.2_Missense_Mutation_p.A466V|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V	p.A510V	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	1700	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		510					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1529C>T	CCDS3263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.197962|5.197962	0.94997|0.94997	0.0|0.0	2.33E-4|2.33E-4	ENSG00000114859|ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512|ENST00000423355	D;D;D;D|T	0.95171|0.70399	-3.63;-3.63;-3.63;-3.63|-0.48	5.14|5.14	5.14|5.14	0.70334|0.70334	Chloride channel, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79070|0.79070	0.4384|0.4384	L|L	0.53561|0.53561	1.675|1.675	0.41557|0.41557	D|D	0.988604|0.988604	D;P;P;B;B|.	0.52996|.	0.957;0.558;0.948;0.415;0.204|.	P;B;P;B;B|.	0.48400|.	0.568;0.158;0.576;0.158;0.075|.	T|T	0.81575|0.81575	-0.0870|-0.0870	10|7	0.87932|0.87932	D|D	0|0	-3.6081|-3.6081	18.2333|18.2333	0.89941|0.89941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	466;510;493;510;466|.	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58|.	.;.;.;CLCN2_HUMAN;.|.	V|W	510;493;466;510|126	ENSP00000265593:A510V;ENSP00000345056:A493V;ENSP00000400425:A466V;ENSP00000391928:A510V|ENSP00000412226:R126W	ENSP00000265593:A510V|ENSP00000412226:R126W	A|R	-|-	2|1	0|2	CLCN2|CLCN2	185554775|185554775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.768000|9.768000	0.98965|0.98965	2.391000|2.391000	0.81399|0.81399	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			36	145	0	0	0	1	0	36	145				
PABPC3	5042	broad.mit.edu	37	13	25672226	25672226	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25672226T>G	ENST00000281589.3	+	1	1927	c.1890T>G	c.(1888-1890)acT>acG	p.T630T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	630					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGTTCCAACTGTTTAAAATT	0.393																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1888-1890)acT>acG		poly(A) binding protein, cytoplasmic 3							85.0	92.0	89.0					13																	25672226		2202	4298	6500	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672226T>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1890T>G	13.37:g.25672226T>G							p.T630T	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1927	+		Lung SC(185;0.0225)|Breast(139;0.0602)	630					Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.1890T>G	CCDS9311.1																																																																																				0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		119	482	0	0	0	1	0	119	482				
ZNF616	90317	broad.mit.edu	37	19	52618727	52618727	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618727G>T	ENST00000600228.1	-	4	1951	c.1690C>A	c.(1690-1692)Ctt>Att	p.L564I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGCACTGTAAGACGTGAACAT	0.443																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1690-1692)Ctt>Att		zinc finger protein 616							115.0	102.0	106.0					19																	52618727		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618727G>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1690C>A	19.37:g.52618727G>T	ENSP00000471000:p.Leu564Ile					ZNF616_ENST00000330123.5_3'UTR	p.L564I	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1951	-			564					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1690C>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739390	0.30774	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.24	-1.25	0.09405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65196	0.2668	M	0.89030	3	0.09310	N	1	D	0.69078	0.997	D	0.79784	0.993	T	0.53995	-0.8359	8	0.72032	D	0.01	.	2.527	0.04694	0.3208:0.0:0.4485:0.2307	.	564	Q08AN1	ZN616_HUMAN	I	564	.	ENSP00000328722:L564I	L	-	1	0	ZNF616	57310539	0.048000	0.20356	0.000000	0.03702	0.038000	0.13279	0.316000	0.19469	-0.339000	0.08401	-0.350000	0.07774	CTT		0.443	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		8	378	1	0	0.00307968	1	0.00310409	8	378				
DNAJC6	9829	broad.mit.edu	37	1	65855062	65855062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855062C>T	ENST00000395325.3	+	10	1303	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	DNAJC6_ENST00000371069.4_Silent_p.C439C|DNAJC6_ENST00000263441.7_Silent_p.C369C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	382					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AACATTACTGCACAAAAGATG	0.428																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(1144-1146)tgC>tgT		DnaJ (Hsp40) homolog, subfamily C, member 6							142.0	125.0	131.0					1																	65855062		2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855062C>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1146C>T	1.37:g.65855062C>T						DNAJC6_ENST00000263441.7_Silent_p.C369C|DNAJC6_ENST00000371069.4_Silent_p.C439C	p.C382C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			10	1303	+			382					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1146C>T	CCDS30739.1																																																																																				0.428	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			63	282	0	0	0	1	0	63	282				
TOX	9760	broad.mit.edu	37	8	59739462	59739462	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59739462C>A	ENST00000361421.1	-	6	1145		c.e6-1			NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box							nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTTTATAGACCTGCAACAACA	0.403																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.e6-1		thymocyte selection-associated high mobility group box							105.0	87.0	93.0					8																	59739462		2203	4300	6503	SO:0001630	splice_region_variant	9760					nucleus	DNA binding	g.chr8:59739462C>A		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.925-1G>T	8.37:g.59739462C>A								NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			6	1145	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)						Q96AV5	Splice_Site	SNP	ENST00000361421.1	37		CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027275	0.93518	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOX	59902016	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.794000	0.85869	2.751000	0.94390	0.650000	0.86243	.		0.403	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	Intron	6	139	1	0	0.0215528	1	0.0216335	6	139				
SEMA6C	10500	broad.mit.edu	37	1	151115025	151115025	+	Missense_Mutation	SNP	C	C	T	rs373129237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151115025C>T	ENST00000341697.3	-	3	1764	c.73G>A	c.(73-75)Gcc>Acc	p.A25T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	25					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGGGAAAGGCGGCCTGAGTA	0.607																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(73-75)Gcc>Acc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	52.0	54.0	53.0		73,73,73	0.4	0.5	1		53	0,8600		0,0,4300	no	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	25/963,25/923,25/931	151115025	1,13005	2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151115025C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.73G>A	1.37:g.151115025C>T	ENSP00000344148:p.Ala25Thr						p.A25T			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1764	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		25					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.73G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136424	0.21123	2.27E-4	0.0	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.18657	2.2;2.42;2.23;2.2	4.69	0.448	0.16614	.	0.900793	0.09727	N	0.763666	T	0.02848	0.0085	N	0.12182	0.205	0.20074	N	0.999937	B;B;B;B	0.31817	0.011;0.341;0.076;0.066	B;B;B;B	0.19148	0.006;0.024;0.021;0.01	T	0.40553	-0.9557	10	0.40728	T	0.16	.	6.1663	0.20392	0.0:0.5412:0.0:0.4588	.	25;25;25;25	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	T	25	ENSP00000357910:A25T;ENSP00000357908:A25T;ENSP00000357909:A25T;ENSP00000344148:A25T	ENSP00000344148:A25T	A	-	1	0	SEMA6C	149381649	0.057000	0.20700	0.453000	0.27007	0.785000	0.44390	0.048000	0.14078	0.231000	0.21079	0.462000	0.41574	GCC		0.607	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		38	169	0	0	0	1	0	38	169				
BSG	682	broad.mit.edu	37	19	578071	578071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:578071C>T	ENST00000333511.3	+	2	435	c.365C>T	c.(364-366)gCg>gTg	p.A122V	BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	122					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCCGGGCGCCCAGGGTC	0.687																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(364-366)gCg>gTg		basigin																																				SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:578071C>T	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.365C>T	19.37:g.578071C>T	ENSP00000333769:p.Ala122Val					BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron	p.A122V	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	435	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	122					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.365C>T	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018309	0.35606	.	.	ENSG00000172270	ENST00000333511	T	0.60040	0.22	2.86	-0.386	0.12466	.	0.880482	0.09736	N	0.762478	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	P	0.51057	0.941	B	0.24701	0.055	T	0.16719	-1.0393	10	0.16896	T	0.51	-0.2264	4.1335	0.10160	0.0:0.3412:0.3477:0.3111	.	122	P35613	BASI_HUMAN	V	122	ENSP00000333769:A122V	ENSP00000333769:A122V	A	+	2	0	BSG	529071	0.001000	0.12720	0.817000	0.32601	0.975000	0.68041	-0.018000	0.12568	0.286000	0.22352	0.462000	0.41574	GCG		0.687	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		27	101	0	0	0	1	0	27	101				
GAS8	2622	broad.mit.edu	37	16	90102049	90102049	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90102049C>T	ENST00000268699.4	+	5	626	c.504C>T	c.(502-504)acC>acT	p.T168T	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.T143T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	168	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGAAACACACCGAGGAGATCA	0.562																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(502-504)acC>acT		growth arrest-specific 8							191.0	152.0	165.0					16																	90102049		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90102049C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.504C>T	16.37:g.90102049C>T						GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.T143T	p.T168T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	5	626	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	168			Microtubule-binding.		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.504C>T	CCDS10992.1																																																																																				0.562	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			98	457	0	0	0	1	0	98	457				
SLC12A5	57468	broad.mit.edu	37	20	44671916	44671916	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671916C>A	ENST00000454036.2	+	9	1309	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	SLC12A5_ENST00000243964.3_Silent_p.T397T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	420					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGATATGACCTCCTACTTCA	0.567																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1258-1260)acC>acA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						297.0	251.0	266.0					20																	44671916		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671916C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1260C>A	20.37:g.44671916C>A						SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.T397T	p.T420T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			9	1336	+		Myeloproliferative disorder(115;0.0122)	420					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1260C>A	CCDS46610.1																																																																																				0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			232	1148	1	0	2.64144e-59	1	3.31638e-59	232	1148				
MTCH2	23788	broad.mit.edu	37	11	47644304	47644304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47644304G>T	ENST00000302503.3	-	12	931	c.774C>A	c.(772-774)taC>taA	p.Y258*	MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	258					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATATTGGGGAGTAAGGAGGGC	0.333																																						ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(772-774)taC>taA		mitochondrial carrier 2							70.0	65.0	67.0					11																	47644304		2201	4297	6498	SO:0001587	stop_gained	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47644304G>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.774C>A	11.37:g.47644304G>T	ENSP00000303222:p.Tyr258*					MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*|MTCH2_ENST00000534074.1_5'UTR	p.Y258*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			12	931	-			258					B2R7L8	Nonsense_Mutation	SNP	ENST00000302503.3	37	c.774C>A	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637882	0.96693	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	.	.	.	5.82	1.34	0.21922	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8946	6.5142	0.22239	0.4954:0.0:0.5046:0.0	.	.	.	.	X	258;110;249	.	ENSP00000303222:Y258X	Y	-	3	2	MTCH2	47600880	0.988000	0.35896	1.000000	0.80357	0.970000	0.65996	0.071000	0.14594	0.376000	0.24707	0.561000	0.74099	TAC		0.333	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		35	168	1	0	1.47244e-24	1	1.6848e-24	35	168				
PLEC	5339	broad.mit.edu	37	8	145024727	145024727	+	Missense_Mutation	SNP	G	G	A	rs371156105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024727G>A	ENST00000322810.4	-	1	317	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	50	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCATGGCACGCATGACCTGC	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(148-150)Cgt>Tgt		plectin		G	,,,CYS/ARG	0,4160		0,0,2080	19.0	26.0	24.0		,,,148	0.9	0.5	8		24	2,8388		0,2,4193	no	intron,intron,intron,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2	,,,180	0,2,6273	AA,AG,GG		0.0238,0.0,0.0159	,,,benign	,,,50/4685	145024727	2,12548	2080	4195	6275	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024727G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.148C>T	8.37:g.145024727G>A	ENSP00000323856:p.Arg50Cys					PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron	p.R50C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			1	317	-			50			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.148C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	9.296	1.051834	0.19827	0.0	2.38E-4	ENSG00000178209	ENST00000322810	T	0.76839	-1.05	4.9	0.952	0.19584	Plectin/S10, N-terminal (1);	0.000000	0.43260	U	0.000591	T	0.51041	0.1651	N	0.04508	-0.205	0.32630	N	0.522118	B	0.19935	0.04	B	0.16289	0.015	T	0.46582	-0.9181	10	0.87932	D	0	.	4.7403	0.13010	0.1569:0.0:0.4131:0.4299	.	50	Q15149	PLEC_HUMAN	C	50	ENSP00000323856:R50C	ENSP00000323856:R50C	R	-	1	0	PLEC	145096715	0.003000	0.15002	0.502000	0.27614	0.510000	0.34073	0.452000	0.21795	-0.126000	0.11682	-1.008000	0.02478	CGT		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	79	0	0	0	1	0	8	79				
GRID2	2895	broad.mit.edu	37	4	94006190	94006190	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94006190A>G	ENST00000282020.4	+	3	547	c.289A>G	c.(289-291)Att>Gtt	p.I97V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	97					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGTCAGCTCCATTGGCTGCAC	0.512																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(289-291)Att>Gtt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						101.0	81.0	88.0					4																	94006190		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006190A>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.289A>G	4.37:g.94006190A>G	ENSP00000282020:p.Ile97Val					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	p.I97V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	547	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	97					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.289A>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258560	0.59321	.	.	ENSG00000152208	ENST00000282020	D	0.81499	-1.5	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.167972	0.50627	D	0.000117	T	0.77294	0.4109	L	0.34521	1.04	0.80722	D	1	P;P	0.46327	0.589;0.876	B;P	0.47376	0.216;0.545	T	0.77083	-0.2719	10	0.36615	T	0.2	.	15.2094	0.73206	1.0:0.0:0.0:0.0	.	97;38	O43424;B4DYB9	GRID2_HUMAN;.	V	97	ENSP00000282020:I97V	ENSP00000282020:I97V	I	+	1	0	GRID2	94225213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.064000	0.61679	0.533000	0.62120	ATT		0.512	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			12	304	0	0	0	1	0	12	304				
B3GALNT2	148789	broad.mit.edu	37	1	235617568	235617568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235617568C>T	ENST00000366600.3	-	10	1439	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	404					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTAAGCGGGGCTCGGGTACTC	0.507																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1210-1212)aGc>aAc		beta-1,3-N-acetylgalactosaminyltransferase 2							73.0	68.0	69.0					1																	235617568		2203	4300	6503	SO:0001583	missense	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235617568C>T	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1211G>A	1.37:g.235617568C>T	ENSP00000355559:p.Ser404Asn						p.S404N	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		10	1439	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	404					Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	37	c.1211G>A	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318292	0.95682	.	.	ENSG00000162885	ENST00000366600	T	0.55052	0.54	5.93	5.93	0.95920	.	0.123054	0.85682	D	0.000000	T	0.71970	0.3403	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68006	-0.5523	10	0.41790	T	0.15	-18.5104	20.3398	0.98759	0.0:1.0:0.0:0.0	.	404	Q8NCR0	B3GL2_HUMAN	N	404	ENSP00000355559:S404N	ENSP00000355559:S404N	S	-	2	0	B3GALNT2	233684191	1.000000	0.71417	0.094000	0.20943	0.860000	0.49131	7.440000	0.80464	2.811000	0.96726	0.557000	0.71058	AGC		0.507	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		60	356	0	0	0	1	0	60	356				
WWOX	51741	broad.mit.edu	37	16	78149014	78149014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:78149014C>T	ENST00000566780.1	+	4	738	c.372C>T	c.(370-372)ggC>ggT	p.G124G	WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G|WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000355860.3_Silent_p.G124G	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	124					cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTTCACTGGCAAAGTGGTTG	0.478																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(370-372)ggC>ggT		WW domain containing oxidoreductase							94.0	94.0	94.0					16																	78149014		1857	4095	5952	SO:0001819	synonymous_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78149014C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.372C>T	16.37:g.78149014C>T						WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000355860.3_Silent_p.G124G|WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G	p.G124G	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	4	738	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	124					A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.372C>T	CCDS42196.1																																																																																				0.478	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			142	427	0	0	0	1	0	142	427				
CYP3A7	1551	broad.mit.edu	37	7	99313450	99313450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99313450C>A	ENST00000336374.2	-	7	603	c.601G>T	c.(601-603)Gac>Tac	p.D201Y	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	201					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ACAAAGGGGTCTTGTGGATTG	0.428																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(601-603)Gac>Tac		cytochrome P450, family 3, subfamily A, polypeptide 7							180.0	170.0	174.0					7																	99313450		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99313450C>A	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.601G>T	7.37:g.99313450C>A	ENSP00000337450:p.Asp201Tyr						p.D201Y	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			7	603	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		201					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.601G>T	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739833	0.30865	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69435	-0.4	4.22	2.38	0.29361	.	0.155454	0.64402	D	0.000015	D	0.84808	0.5554	H	0.96015	3.755	0.46113	D	0.998871	D	0.89917	1.0	D	0.87578	0.998	D	0.84182	0.0440	10	0.72032	D	0.01	.	8.3536	0.32316	0.0:0.7975:0.0:0.2025	.	201	P24462	CP3A7_HUMAN	Y	201	ENSP00000337450:D201Y	ENSP00000292414:D201Y	D	-	1	0	CYP3A7	99151386	0.976000	0.34144	0.007000	0.13788	0.002000	0.02628	2.482000	0.45224	0.335000	0.23614	-0.266000	0.10368	GAC		0.428	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			162	561	1	0	3.76969e-91	1	4.84057e-91	162	561				
MRPS11	64963	broad.mit.edu	37	15	89018411	89018411	+	Missense_Mutation	SNP	C	C	T	rs149047976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89018411C>T	ENST00000325844.4	+	4	617	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	118					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R118W(1)		large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGAGGGATTTCGGAATGCCAA	0.517																																						ENST00000325844.4																			1	Substitution - Missense(1)	p.R118W(1)	large_intestine(1)	large_intestine(3)	3						c.(352-354)Cgg>Tgg		mitochondrial ribosomal protein S11		C	TRP/ARG,TRP/ARG	3,4399	4.2+/-10.8	0,3,2198	120.0	103.0	109.0		352,253	4.3	1.0	15	dbSNP_134	109	0,8598		0,0,4299	yes	missense,missense	MRPS11	NM_022839.3,NM_176805.2	101,101	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging,probably-damaging	118/195,85/162	89018411	3,12997	2201	4299	6500	SO:0001583	missense	64963				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr15:89018411C>T	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"""Mitochondrial ribosomal proteins / small subunits"""	14050	protein-coding gene	gene with protein product	"""cervical cancer proto-oncogene 2"""	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.352C>T	15.37:g.89018411C>T	ENSP00000317376:p.Arg118Trp					MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	p.R118W	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		4	617	+	Lung NSC(78;0.203)		118					B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	ENST00000325844.4	37	c.352C>T	CCDS10342.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049306	0.36181	6.82E-4	0.0	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.37235	1.32;1.21	5.31	4.32	0.51571	.	0.113323	0.56097	D	0.000033	T	0.62780	0.2456	M	0.87269	2.87	0.40465	D	0.980286	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.971;0.99;0.983	T	0.70200	-0.4937	10	0.87932	D	0	-14.4484	12.2988	0.54862	0.2645:0.7355:0.0:0.0	.	117;85;118	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	W	118;85	ENSP00000317376:R118W;ENSP00000318054:R85W	ENSP00000317376:R118W	R	+	1	2	MRPS11	86819415	0.976000	0.34144	0.989000	0.46669	0.900000	0.52787	1.300000	0.33436	2.479000	0.83701	0.655000	0.94253	CGG		0.517	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839		56	314	0	0	0	1	0	56	314				
RGS10	6001	broad.mit.edu	37	10	121286924	121286924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121286924C>A	ENST00000369101.3	-	1	65	c.38G>T	c.(37-39)aGc>aTc	p.S13I	RGS10_ENST00000392865.1_Missense_Mutation_p.S7I|RGS10_ENST00000369103.2_Missense_Mutation_p.S21I|RGS10_ENST00000469575.1_5'Flank			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	13					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACTGCCATCGCTGTCGTGGAT	0.527																																						ENST00000392865.1																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(19-21)aGc>aTc		regulator of G-protein signaling 10							99.0	90.0	93.0					10																	121286924		2203	4300	6503	SO:0001583	missense	6001				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr10:121286924C>A	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.38G>T	10.37:g.121286924C>A	ENSP00000358097:p.Ser13Ile					RGS10_ENST00000369103.2_Missense_Mutation_p.S21I|RGS10_ENST00000369101.3_Missense_Mutation_p.S13I	p.S7I	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)	2	82	-		Lung NSC(174;0.094)|all_lung(145;0.123)	13					A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37	c.20G>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.034845	0.35893	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.47528	0.85;0.84;0.84	5.63	4.73	0.59995	.	0.429106	0.24220	N	0.040450	T	0.29652	0.0740	N	0.08118	0	0.22489	N	0.999058	B;B;B	0.28880	0.226;0.226;0.145	B;B;B	0.34242	0.176;0.178;0.058	T	0.22521	-1.0214	10	0.25751	T	0.34	-10.5978	11.8905	0.52626	0.0:0.9179:0.0:0.0821	.	21;7;13	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	I	7;21;13	ENSP00000376605:S7I;ENSP00000358099:S21I;ENSP00000358097:S13I	ENSP00000358097:S13I	S	-	2	0	RGS10	121276914	0.227000	0.23707	0.039000	0.18376	0.655000	0.38815	1.434000	0.34958	1.516000	0.48900	0.551000	0.68910	AGC		0.527	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		47	264	1	0	1.30916e-28	1	1.52443e-28	47	264				
MDGA2	161357	broad.mit.edu	37	14	47324240	47324240	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47324240A>T	ENST00000399232.2	-	15	3027	c.2663T>A	c.(2662-2664)aTt>aAt	p.I888N	MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000426342.1_Missense_Mutation_p.I659N|MDGA2_ENST00000439988.3_Missense_Mutation_p.I957N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	888	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAATGAAGTAATTGGGTATAT	0.323																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1975-1977)aTt>aAt		MAM domain containing glycosylphosphatidylinositol anchor 2							136.0	124.0	128.0					14																	47324240		1816	4076	5892	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47324240A>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2663T>A	14.37:g.47324240A>T	ENSP00000382178:p.Ile888Asn					MDGA2_ENST00000439988.2_Missense_Mutation_p.I888N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I957N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N	p.I659N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			15	2722	-			888					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1976T>A		.	.	.	.	.	.	.	.	.	.	A	10.88	1.475480	0.26511	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.126462	0.34314	U	0.004061	T	0.01189	0.0039	N	0.02697	-0.525	0.33543	D	0.595187	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.40728	T	0.16	.	7.311	0.26475	0.8997:0.0:0.1003:0.0	.	888	Q7Z553	MDGA2_HUMAN	N	888;659;957;90;659	ENSP00000400011:I888N;ENSP00000405456:I659N;ENSP00000382178:I957N;ENSP00000382168:I90N;ENSP00000349925:I659N	ENSP00000349925:I659N	I	-	2	0	MDGA2	46393990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.795000	0.55499	1.890000	0.54733	0.455000	0.32223	ATT		0.323	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		24	210	0	0	0	1	0	24	210				
NBPF14	25832	broad.mit.edu	37	1	148004691	148004691	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148004691A>G	ENST00000369219.1	-	22	2639	c.2623T>C	c.(2623-2625)Tca>Cca	p.S875P				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	875	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTGGAATGAGTCAGGTAGT	0.438																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(2623-2625)Tca>Cca		neuroblastoma breakpoint family, member 14							108.0	173.0	152.0					1																	148004691		2122	4257	6379	SO:0001583	missense	25832					cytoplasm		g.chr1:148004691A>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2623T>C	1.37:g.148004691A>G	ENSP00000358221:p.Ser875Pro						p.S875P			Q5TI25	NBPFE_HUMAN			22	2639	-	all_hematologic(923;0.032)		875			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.2623T>C		.	.	.	.	.	.	.	.	.	.	a	4.830	0.154329	0.09236	.	.	ENSG00000122497	ENST00000369219;ENST00000369368	T	0.16324	2.35	0.445	-0.891	0.10573	DUF1220 (2);	.	.	.	.	T	0.07234	0.0183	M	0.75264	2.295	0.09310	N	1	B;B;B	0.17852	0.001;0.024;0.006	B;B;B	0.24006	0.005;0.05;0.02	T	0.39231	-0.9624	8	0.59425	D	0.04	.	.	.	.	.	223;856;875	F8WEX8;B4DH59;Q5TI25	.;.;NBPFE_HUMAN	P	875;223	ENSP00000358221:S875P	ENSP00000358221:S875P	S	-	1	0	NBPF14	146471315	0.998000	0.40836	0.002000	0.10522	0.010000	0.07245	0.750000	0.26334	-0.415000	0.07484	0.305000	0.20034	TCA		0.438	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		21	1655	0	0	0	1	0	21	1655				
LAMB2	3913	broad.mit.edu	37	3	49159704	49159704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49159704G>A	ENST00000418109.1	-	29	4837	c.4673C>T	c.(4672-4674)gCg>gTg	p.A1558V	USP19_ENST00000434032.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000398898.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1558	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCTGCAATCGCACCCGCCAG	0.607																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4672-4674)gCg>gTg		laminin, beta 2 (laminin S)							59.0	57.0	58.0					3																	49159704		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159704G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4673C>T	3.37:g.49159704G>A	ENSP00000388325:p.Ala1558Val					LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V	p.A1558V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	29	4837	-			1558			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4673C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358164	0.41801	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.34859	1.34;1.34	5.27	-5.68	0.02436	.	0.294380	0.35525	N	0.003158	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.27700	0.186	B	0.21151	0.033	T	0.03545	-1.1026	10	0.66056	D	0.02	.	21.1267	0.99946	0.0:0.0:0.1172:0.8828	.	1558	P55268	LAMB2_HUMAN	V	1558;1558;325	ENSP00000388325:A1558V;ENSP00000307156:A1558V	ENSP00000307156:A1558V	A	-	2	0	LAMB2	49134708	0.637000	0.27216	0.000000	0.03702	0.679000	0.39708	1.191000	0.32138	-0.833000	0.04245	0.650000	0.86243	GCG		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		73	290	0	0	0	1	0	73	290				
AADACL4	343066	broad.mit.edu	37	1	12726629	12726629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726629G>A	ENST00000376221.1	+	4	1107	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	369						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GCGTGACATGGTACCACCTGT	0.478																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1105-1107)tgG>tgA		arylacetamide deacetylase-like 4							87.0	89.0	88.0					1																	12726629		2203	4300	6503	SO:0001587	stop_gained	343066					integral to membrane	carboxylesterase activity	g.chr1:12726629G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1107G>A	1.37:g.12726629G>A	ENSP00000365395:p.Trp369*						p.W369*	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1107	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	369						Nonsense_Mutation	SNP	ENST00000376221.1	37	c.1107G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311381	0.23821	.	.	ENSG00000204518	ENST00000376221	.	.	.	4.53	1.47	0.22746	.	0.068503	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6505	5.0584	0.14544	0.0817:0.1461:0.621:0.1512	.	.	.	.	X	369	.	ENSP00000365395:W369X	W	+	3	0	AADACL4	12649216	0.994000	0.37717	0.004000	0.12327	0.020000	0.10135	2.300000	0.43620	0.120000	0.18254	0.655000	0.94253	TGG		0.478	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		65	541	0	0	0	1	0	65	541				
GPR124	25960	broad.mit.edu	37	8	37702377	37702377	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702377G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Silent_p.I297I|GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAAGGTCACCGATGTGCTTCA	0.627																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(889-891)atC>atT		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							77.0	67.0	71.0					8																	37702377		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702377G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702377G>A						GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	p.I297I	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1011	-		Lung NSC(58;0.118)|all_lung(54;0.195)	297					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.891C>T	CCDS6097.2																																																																																				0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			75	310	0	0	0	1	0	75	310				
ZNF354A	6940	broad.mit.edu	37	5	178139568	178139568	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139568A>C	ENST00000335815.2	-	5	1508	c.1311T>G	c.(1309-1311)ttT>ttG	p.F437L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	437				F -> Y (in Ref. 1; BAA25182). {ECO:0000305}.	regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TACAATTATAAAACTTCTCTC	0.363																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(1309-1311)ttT>ttG		zinc finger protein 354A							77.0	82.0	80.0					5																	178139568		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139568A>C	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1311T>G	5.37:g.178139568A>C	ENSP00000337122:p.Phe437Leu						p.F437L	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1508	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	437	F -> Y (in Ref. 1; BAA25182).				Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.1311T>G	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058668	0.36277	.	.	ENSG00000169131	ENST00000335815	T	0.16897	2.31	4.71	-0.432	0.12291	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.257680	0.20616	N	0.088869	T	0.03564	0.0102	N	0.00459	-1.475	0.32908	D	0.514063	B	0.06786	0.001	B	0.06405	0.002	T	0.19451	-1.0305	10	0.42905	T	0.14	-4.5652	5.5901	0.17297	0.3554:0.4687:0.1759:0.0	.	437	O60765	Z354A_HUMAN	L	437	ENSP00000337122:F437L	ENSP00000337122:F437L	F	-	3	2	ZNF354A	178072174	0.001000	0.12720	0.999000	0.59377	0.794000	0.44872	-0.793000	0.04589	0.062000	0.16340	-0.375000	0.07067	TTT		0.363	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		100	459	0	0	0	1	0	100	459				
ERN1	2081	broad.mit.edu	37	17	62130142	62130142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62130142G>A	ENST00000433197.3	-	17	2346	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TTACTCACAGGGTTCTCCTTA	0.542																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2251-2253)Cct>Tct		endoplasmic reticulum to nucleus signaling 1							60.0	58.0	58.0					17																	62130142		1930	4138	6068	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62130142G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2251C>T	17.37:g.62130142G>A	ENSP00000401445:p.Pro751Ser						p.P751S	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			17	2346	-			751			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2251C>T	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371479	0.61624	.	.	ENSG00000178607	ENST00000433197	T	0.48836	0.8	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	N	0.19112	0.55	0.80722	D	1	B	0.21071	0.051	B	0.29716	0.106	T	0.14504	-1.0470	10	0.21540	T	0.41	-16.6814	19.3787	0.94523	0.0:0.0:1.0:0.0	.	751	O75460	ERN1_HUMAN	S	751	ENSP00000401445:P751S	ENSP00000401445:P751S	P	-	1	0	ERN1	59483874	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	9.286000	0.95898	2.588000	0.87417	0.205000	0.17691	CCT		0.542	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		30	148	0	0	0	1	0	30	148				
SULT6B1	391365	broad.mit.edu	37	2	37415634	37415634	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37415634G>T	ENST00000535679.1	-	1	149	c.150C>A	c.(148-150)acC>acA	p.T50T	SULT6B1_ENST00000379149.2_Silent_p.T50T|SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000407963.1_Silent_p.T12T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	50						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGCTTCGAAGGTGTCCAGCG	0.438																																						ENST00000535679.1																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(148-150)acC>acA		sulfotransferase family, cytosolic, 6B, member 1							213.0	183.0	193.0					2																	37415634		2203	4300	6503	SO:0001819	synonymous_variant	391365					cytoplasm	sulfotransferase activity	g.chr2:37415634G>T	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.150C>A	2.37:g.37415634G>T						SULT6B1_ENST00000379149.2_Silent_p.T50T|SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000407963.1_Silent_p.T12T	p.T50T			Q6IMI4	ST6B1_HUMAN			1	149	-		all_hematologic(82;0.248)	50					B2RTS7	Silent	SNP	ENST00000535679.1	37	c.150C>A																																																																																					0.438	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		13	536	1	0	1.49906e-05	1	1.53515e-05	13	536				
GGA3	23163	broad.mit.edu	37	17	73239206	73239206	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73239206G>T	ENST00000245541.6	-	6	682	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000351904.7_Missense_Mutation_p.L123M|GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.L84M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	156	Binds to ARF1 (in long isoform).				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GAGGGGATCAGCGTCCTATCC	0.547																																						ENST00000245541.6																			0				breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(466-468)Ctg>Atg		golgi-associated, gamma adaptin ear containing, ARF binding protein 3							223.0	186.0	198.0					17																	73239206		2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73239206G>T	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.466C>A	17.37:g.73239206G>T	ENSP00000245541:p.Leu156Met					GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M|GGA3_ENST00000582486.1_Missense_Mutation_p.L84M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000351904.7_Missense_Mutation_p.L123M	p.L156M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		6	682	-			156			Binds to ARF1 (in long isoform).		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.466C>A	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166671	0.38217	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.52295	2.04;0.67	4.85	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.63141	0.2486	M	0.63843	1.955	0.80722	D	1	D;P;D	0.89917	1.0;0.723;0.988	D;P;P	0.87578	0.998;0.64;0.798	T	0.61407	-0.7069	10	0.33141	T	0.24	-16.506	13.0458	0.58925	0.0775:0.0:0.9225:0.0	.	34;123;156	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	M	156;123;84;34	ENSP00000245541:L156M;ENSP00000326575:L123M	ENSP00000245541:L156M	L	-	1	2	GGA3	70750801	0.999000	0.42202	0.986000	0.45419	0.984000	0.73092	2.840000	0.48215	1.256000	0.44068	0.563000	0.77884	CTG		0.547	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		94	444	1	0	5.30763e-54	1	6.62094e-54	94	444				
SERAC1	84947	broad.mit.edu	37	6	158564142	158564142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158564142C>A	ENST00000367104.3	-	8	815	c.684G>T	c.(682-684)caG>caT	p.Q228H	SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H|SERAC1_ENST00000367102.2_Missense_Mutation_p.Q228H	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	228					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGTAAAATACTGGATACACT	0.393																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(682-684)caG>caT		serine active site containing 1							128.0	123.0	125.0					6																	158564142		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158564142C>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.684G>T	6.37:g.158564142C>A	ENSP00000356071:p.Gln228His					SERAC1_ENST00000367104.3_Missense_Mutation_p.Q228H|SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H	p.Q228H			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	8	825	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	228					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.684G>T	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319136	0.60524	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.48201	0.82;0.82;0.82	5.79	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.159951	0.56097	D	0.000022	T	0.48003	0.1476	M	0.63428	1.95	0.52501	D	0.999957	D	0.76494	0.999	D	0.66497	0.944	T	0.52034	-0.8629	10	0.87932	D	0	-11.4575	7.6555	0.28373	0.0:0.6056:0.0:0.3944	.	228	Q96JX3	SRAC1_HUMAN	H	228	ENSP00000356069:Q228H;ENSP00000356071:Q228H;ENSP00000356068:Q228H	ENSP00000356068:Q228H	Q	-	3	2	SERAC1	158484130	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.136000	0.31467	0.439000	0.26476	0.455000	0.32223	CAG		0.393	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		65	275	1	0	2.92391e-54	1	3.64956e-54	65	275				
ZNF281	23528	broad.mit.edu	37	1	200377323	200377323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200377323C>T	ENST00000294740.3	-	2	1635	c.1511G>A	c.(1510-1512)gGc>gAc	p.G504D	ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D|ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	504					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGATACTATGCCAAGTGAGCC	0.383																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1510-1512)gGc>gAc		zinc finger protein 281							85.0	81.0	82.0					1																	200377323		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377323C>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1511G>A	1.37:g.200377323C>T	ENSP00000294740:p.Gly504Asp					ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D|ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D	p.G504D	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1635	-			504					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1511G>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.556407	0.00910	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.26518	1.73;1.73;1.73	5.63	5.63	0.86233	.	0.173579	0.49305	D	0.000144	T	0.11793	0.0287	N	0.05383	-0.06	0.40018	D	0.975371	B;B	0.25272	0.122;0.122	B;B	0.23852	0.049;0.049	T	0.09037	-1.0693	10	0.02654	T	1	-8.8136	12.9562	0.58430	0.0:0.9262:0.0:0.0738	.	468;504	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	504;504;468;209	ENSP00000294740:G504D;ENSP00000356322:G504D;ENSP00000356321:G468D	ENSP00000294740:G504D	G	-	2	0	ZNF281	198643946	1.000000	0.71417	0.975000	0.42487	0.945000	0.59286	4.300000	0.59079	2.641000	0.89580	0.650000	0.86243	GGC		0.383	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		90	392	0	0	0	1	0	90	392				
PROX1	5629	broad.mit.edu	37	1	214170140	214170140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170140C>T	ENST00000366958.4	+	2	870	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PROX1_ENST00000435016.1_Missense_Mutation_p.P88S|PROX1_ENST00000261454.4_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_Missense_Mutation_p.P88S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	88					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGCCTTTTCCAGGAGCAAC	0.483																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(262-264)Cca>Tca		prospero homeobox 1							86.0	83.0	84.0					1																	214170140		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170140C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.262C>T	1.37:g.214170140C>T	ENSP00000355925:p.Pro88Ser					PROX1_ENST00000435016.1_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_Missense_Mutation_p.P88S|PROX1_ENST00000261454.4_Missense_Mutation_p.P88S	p.P88S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	870	+			88					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.262C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671909	0.29693	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.14661	0.345	0.80722	D	1	B	0.27166	0.17	B	0.34536	0.185	T	0.11470	-1.0586	10	0.20046	T	0.44	-2.4481	20.3627	0.98863	0.0:1.0:0.0:0.0	.	88	Q92786	PROX1_HUMAN	S	88	ENSP00000419517:P88S;ENSP00000420283:P88S;ENSP00000355925:P88S;ENSP00000400694:P88S;ENSP00000261454:P88S	ENSP00000261454:P88S	P	+	1	0	PROX1	212236763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.721000	0.68477	2.885000	0.99019	0.655000	0.94253	CCA		0.483	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		59	371	0	0	0	1	0	59	371				
OR2Z1	284383	broad.mit.edu	37	19	8841503	8841503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841503G>A	ENST00000324060.2	+	1	188	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTGTCATAGGCCTTCTGGGC	0.542																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(112-114)gGc>gAc		olfactory receptor, family 2, subfamily Z, member 1							145.0	123.0	130.0					19																	8841503		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841503G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.113G>A	19.37:g.8841503G>A	ENSP00000316284:p.Gly38Asp						p.G38D	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	188	+			38					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.113G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974594	0.53720	.	.	ENSG00000181733	ENST00000324060	T	0.01092	5.35	4.33	3.16	0.36331	.	0.369647	0.22845	N	0.054923	T	0.02380	0.0073	L	0.52905	1.665	0.09310	N	1	P	0.50617	0.937	P	0.49561	0.615	T	0.38308	-0.9667	10	0.87932	D	0	.	10.1776	0.42948	0.0:0.3736:0.6264:0.0	.	38	Q8NG97	OR2Z1_HUMAN	D	38	ENSP00000316284:G38D	ENSP00000316284:G38D	G	+	2	0	OR2Z1	8702503	0.263000	0.24083	0.040000	0.18447	0.014000	0.08584	1.834000	0.39171	2.182000	0.69389	0.543000	0.68304	GGC		0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			21	420	0	0	0	1	0	21	420				
NPHP1	4867	broad.mit.edu	37	2	110936030	110936030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110936030G>T	ENST00000393272.3	-	4	396	c.299C>A	c.(298-300)gCt>gAt	p.A100D	NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000316534.4_Missense_Mutation_p.A100D	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	100					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATTGTCACAGCAAGGCCCTG	0.363																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(298-300)gCt>gAt		nephronophthisis 1 (juvenile)							174.0	160.0	165.0					2																	110936030		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110936030G>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.299C>A	2.37:g.110936030G>T	ENSP00000376953:p.Ala100Asp					NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000393272.3_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D	p.A100D			O15259	NPHP1_HUMAN			4	372	-			100					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.299C>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258482	0.39896	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000417665;ENST00000418527	T;T;T;T	0.62364	0.03;0.06;0.03;0.06	5.57	5.57	0.84162	.	0.210292	0.38959	N	0.001519	T	0.76723	0.4027	M	0.61703	1.905	0.42839	D	0.994045	P;P;D;P;P;D	0.71674	0.664;0.947;0.998;0.933;0.773;0.96	B;B;D;B;B;P	0.71656	0.231;0.344;0.974;0.357;0.408;0.56	T	0.76572	-0.2910	10	0.51188	T	0.08	-15.4178	17.4116	0.87487	0.0:0.0:1.0:0.0	.	100;100;100;100;100;100	B4DQY0;C9JNM7;C9J082;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	D	100	ENSP00000313169:A100D;ENSP00000389879:A100D;ENSP00000376953:A100D;ENSP00000402176:A100D	ENSP00000313169:A100D	A	-	2	0	NPHP1	110293319	0.944000	0.32072	0.795000	0.32087	0.182000	0.23217	4.441000	0.59981	2.780000	0.95670	0.655000	0.94253	GCT		0.363	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		119	336	1	0	2.51135e-46	1	3.08402e-46	119	336				
SMTN	6525	broad.mit.edu	37	22	31489809	31489809	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31489809G>A	ENST00000347557.2	+	12	1850				SMTN_ENST00000358743.1_Intron|SMTN_ENST00000333137.7_Intron|SMTN_ENST00000404574.1_Missense_Mutation_p.A126T	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCACCCACCTGCCTTCAGCAC	0.692																																						ENST00000404574.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(376-378)Gcc>Acc		smoothelin							9.0	10.0	9.0					22																	31489809		868	1978	2846	SO:0001627	intron_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31489809G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1633-1480G>A	22.37:g.31489809G>A						SMTN_ENST00000333137.7_Intron|SMTN_ENST00000347557.2_Intron|SMTN_ENST00000358743.1_Intron	p.A126T			P53814	SMTN_HUMAN			1	466	+			529					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.376G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462024	0.63513	.	.	ENSG00000183963	ENST00000404496;ENST00000404574	D	0.93859	-3.3	4.74	3.71	0.42584	.	.	.	.	.	D	0.85358	0.5678	N	0.19112	0.55	0.80722	D	1	B;B;B	0.28324	0.207;0.024;0.207	B;B;B	0.26517	0.07;0.003;0.07	T	0.82731	-0.0312	9	0.56958	D	0.05	.	5.7994	0.18406	0.2264:0.0:0.7736:0.0	.	612;126;550	B4E229;B5MCI0;B5MC56	.;.;.	T	550;126	ENSP00000383919:A126T	ENSP00000385094:A550T	A	+	1	0	SMTN	29819809	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.627000	0.37050	2.372000	0.80975	0.462000	0.41574	GCC		0.692	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		20	50	0	0	0	1	0	20	50				
RPTN	126638	broad.mit.edu	37	1	152127264	152127264	+	Nonsense_Mutation	SNP	G	G	A	rs192865821	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152127264G>A	ENST00000316073.3	-	3	2375	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	771	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCCTGTCTCGTCTCTGACGG	0.473													G|||	4	0.000798722	0.0008	0.0	5008	,	,		24071	0.003		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2311-2313)Cga>Tga		repetin							848.0	672.0	726.0					1																	152127264		1568	3582	5150	SO:0001587	stop_gained	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127264G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2311C>T	1.37:g.152127264G>A	ENSP00000317895:p.Arg771*						p.R771*	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	2375	-			771			Gln-rich.		B7ZBZ3	Nonsense_Mutation	SNP	ENST00000316073.3	37	c.2311C>T	CCDS41397.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	37	6.007274	0.97195	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	5.09	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.24012	N	0.996175	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0492	6.6798	0.23113	0.0867:0.0:0.3764:0.5369	.	.	.	.	X	771;426	.	ENSP00000317895:R771X	R	-	1	2	RPTN	150393888	0.001000	0.12720	0.205000	0.23548	0.272000	0.26649	0.228000	0.17814	0.371000	0.24564	0.643000	0.83706	CGA		0.473	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		436	2265	0	0	0	1	0	436	2265				
TMEM131	23505	broad.mit.edu	37	2	98373767	98373767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373767G>A	ENST00000186436.5	-	41	5675	c.5447C>T	c.(5446-5448)gCc>gTc	p.A1816V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1816						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGAAGGGCGCTGCTAAG	0.592																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5446-5448)gCc>gTc		transmembrane protein 131							141.0	144.0	143.0					2																	98373767		2148	4256	6404	SO:0001583	missense	23505					integral to membrane		g.chr2:98373767G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5447C>T	2.37:g.98373767G>A	ENSP00000186436:p.Ala1816Val						p.A1816V	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			41	5675	-			1816						Missense_Mutation	SNP	ENST00000186436.5	37	c.5447C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044813	0.36085	.	.	ENSG00000075568	ENST00000186436	T	0.35973	1.28	5.47	4.56	0.56223	.	0.550760	0.21063	N	0.080790	T	0.23532	0.0569	N	0.14661	0.345	0.41406	D	0.987701	B;B	0.22414	0.005;0.069	B;B	0.24701	0.01;0.055	T	0.07233	-1.0783	10	0.56958	D	0.05	-0.0624	10.5944	0.45329	0.0:0.2379:0.6324:0.1297	.	1816;196	Q92545;Q0P631	TM131_HUMAN;.	V	1816	ENSP00000186436:A1816V	ENSP00000186436:A1816V	A	-	2	0	TMEM131	97740199	0.994000	0.37717	0.253000	0.24343	0.984000	0.73092	2.242000	0.43106	1.487000	0.48415	0.637000	0.83480	GCC		0.592	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		68	284	0	0	0	1	0	68	284				
EPHA10	284656	broad.mit.edu	37	1	38192845	38192845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38192845G>A	ENST00000373048.4	-	8	1700	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	EPHA10_ENST00000540011.1_Silent_p.V62V|EPHA10_ENST00000330210.7_Silent_p.V62V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.V567V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	567					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTACGGTGACGACAATGGCGG	0.642																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1699-1701)gtC>gtT		EPH receptor A10							52.0	67.0	62.0					1																	38192845		2062	4193	6255	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38192845G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1701C>T	1.37:g.38192845G>A						EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.V567V|EPHA10_ENST00000330210.7_Silent_p.V62V|EPHA10_ENST00000540011.1_Silent_p.V62V	p.V567V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			8	1700	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	567					A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1701C>T	CCDS41305.1																																																																																				0.642	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		14	196	0	0	0	1	0	14	196				
PDE9A	5152	broad.mit.edu	37	21	44119111	44119111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44119111G>T	ENST00000291539.6	+	4	312	c.252G>T	c.(250-252)aaG>aaT	p.K84N	PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S|PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	84					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGGCCATCAAGCAACTCTCCG	0.468																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(250-252)aaG>aaT		phosphodiesterase 9A							93.0	84.0	87.0					21																	44119111		2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44119111G>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.252G>T	21.37:g.44119111G>T	ENSP00000291539:p.Lys84Asn					PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S	p.K84N	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			4	312	+			84					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.252G>T	CCDS13690.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.981|9.981	1.228164|1.228164	0.22542|0.22542	.|.	.|.	ENSG00000160191|ENSG00000160191	ENST00000380328;ENST00000335440;ENST00000349112|ENST00000335512;ENST00000291539;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000398225;ENST00000398224	T;T;T|T;T;T;T;T;T;T;T	0.68765|0.69435	-0.28;-0.35;-0.26|-0.37;-0.38;-0.39;-0.38;-0.33;-0.37;-0.4;-0.33	4.19|4.19	2.18|2.18	0.27775|0.27775	.|.	.|4.256290	.|0.01036	.|U	.|0.004236	T|T	0.75042|0.75042	0.3796|0.3796	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|D;B;B;B;D;B;B;B;B	0.32101|0.76494	0.229;0.356;0.356|0.999;0.001;0.001;0.001;0.999;0.001;0.002;0.0;0.002	B;B;B|D;B;B;B;D;B;B;B;B	0.32090|0.78314	0.099;0.14;0.14|0.991;0.002;0.002;0.004;0.991;0.002;0.004;0.001;0.004	T|T	0.69101|0.69101	-0.5234|-0.5234	8|9	0.27082|0.17369	T|T	0.32|0.5	.|.	5.1173|5.1173	0.14840|0.14840	0.2781:0.0:0.7219:0.0|0.2781:0.0:0.7219:0.0	.|.	35;61;110|17;58;43;58;43;36;84;17;84	O76083-4;O76083-12;O76083-5|O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-3;O76083	.;.;.|.;.;.;.;.;.;.;.;PDE9A_HUMAN	S|N	110;61;35|84;84;17;43;58;58;43;17	ENSP00000369685:A110S;ENSP00000335365:A61S;ENSP00000344730:A35S|ENSP00000335242:K84N;ENSP00000291539:K84N;ENSP00000381287:K17N;ENSP00000381289:K43N;ENSP00000381291:K58N;ENSP00000328699:K58N;ENSP00000381281:K43N;ENSP00000381280:K17N	ENSP00000335365:A61S|ENSP00000291539:K84N	A|K	+|+	1|3	0|2	PDE9A|PDE9A	42992180|42992180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.671000|1.671000	0.37513|0.37513	0.984000|0.984000	0.38629|0.38629	0.514000|0.514000	0.50259|0.50259	GCA|AAG		0.468	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			17	310	1	0	7.07596e-05	1	7.20791e-05	17	310				
PKHD1L1	93035	broad.mit.edu	37	8	110471888	110471888	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110471888A>G	ENST00000378402.5	+	47	7173	c.7069A>G	c.(7069-7071)Aca>Gca	p.T2357A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2357					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAAACATAACACTAAGTAA	0.348										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7069-7071)Aca>Gca		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							64.0	62.0	62.0					8																	110471888		1867	4114	5981	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110471888A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7069A>G	8.37:g.110471888A>G	ENSP00000367655:p.Thr2357Ala	HNSCC(38;0.096)					p.T2357A	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		47	7173	+			2357					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7069A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.382117	0.42207	.	.	ENSG00000205038	ENST00000378402	D	0.93133	-3.17	5.44	4.26	0.50523	.	0.060492	0.64402	D	0.000005	D	0.91036	0.7180	M	0.68952	2.095	0.09310	N	1	B	0.22604	0.072	B	0.25506	0.061	T	0.80991	-0.1135	10	0.30854	T	0.27	.	9.9275	0.41501	0.8475:0.0:0.0:0.1525	.	2357	Q86WI1	PKHL1_HUMAN	A	2357	ENSP00000367655:T2357A	ENSP00000367655:T2357A	T	+	1	0	PKHD1L1	110541064	0.927000	0.31430	0.014000	0.15608	0.929000	0.56500	4.668000	0.61568	0.881000	0.35993	0.374000	0.22700	ACA		0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		19	52	0	0	0	1	0	19	52				
LMBRD2	92255	broad.mit.edu	37	5	36108727	36108727	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36108727A>C	ENST00000296603.4	-	16	2268	c.1806T>G	c.(1804-1806)cgT>cgG	p.R602R		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	602						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGTCCATAACGTTCTTTCC	0.303																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1804-1806)cgT>cgG		LMBR1 domain containing 2							119.0	110.0	113.0					5																	36108727		2202	4300	6502	SO:0001819	synonymous_variant	92255					integral to membrane		g.chr5:36108727A>C		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1806T>G	5.37:g.36108727A>C							p.R602R	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2268	-	all_lung(31;0.000146)		602					B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	37	c.1806T>G	CCDS34145.1																																																																																				0.303	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		25	94	0	0	0	1	0	25	94				
SLC35C1	55343	broad.mit.edu	37	11	45832503	45832503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45832503G>A	ENST00000314134.3	+	2	2108	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	238					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAACGTCAACGCCTGCATCCT	0.627																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(712-714)Gcc>Acc		solute carrier family 35 (GDP-fucose transporter), member C1							59.0	55.0	56.0					11																	45832503		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45832503G>A		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.712G>A	11.37:g.45832503G>A	ENSP00000313318:p.Ala238Thr					SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T	p.A238T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	2	2108	+			238					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.712G>A	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291539	0.95546	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.68765	-0.35;-0.35;-0.35	6.17	6.17	0.99709	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.82711	-0.0322	10	0.39692	T	0.17	-43.6867	20.8794	0.99867	0.0:0.0:1.0:0.0	.	238	Q96A29	FUCT1_HUMAN	T	225;225;159;238;238	ENSP00000412408:A225T;ENSP00000399779:A225T;ENSP00000313318:A238T	ENSP00000313318:A238T	A	+	1	0	SLC35C1	45789079	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	9.570000	0.98174	2.941000	0.99782	0.655000	0.94253	GCC		0.627	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		57	232	0	0	0	1	0	57	232				
KCTD18	130535	broad.mit.edu	37	2	201355283	201355283	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355283T>G	ENST00000359878.3	-	7	1331	c.821A>C	c.(820-822)aAg>aCg	p.K274T	KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	274					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTAACTGGCTTAGGACCAGT	0.463																																						ENST00000359878.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(820-822)aAg>aCg		potassium channel tetramerization domain containing 18							65.0	70.0	68.0					2																	201355283		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201355283T>G	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.821A>C	2.37:g.201355283T>G	ENSP00000352941:p.Lys274Thr					KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T	p.K274T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			7	1331	-			274					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.821A>C	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198727	0.58126	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.54479	0.57;0.57	5.09	3.91	0.45181	.	0.086833	0.49916	N	0.000137	T	0.39489	0.1080	L	0.32530	0.975	0.35781	D	0.821628	P	0.43169	0.8	B	0.36534	0.227	T	0.54410	-0.8298	10	0.87932	D	0	-20.859	11.6997	0.51564	0.0:0.0:0.1484:0.8516	.	274	Q6PI47	KCD18_HUMAN	T	274	ENSP00000352941:K274T;ENSP00000386751:K274T	ENSP00000352941:K274T	K	-	2	0	KCTD18	201063528	1.000000	0.71417	0.976000	0.42696	0.924000	0.55760	3.977000	0.56874	0.925000	0.37094	0.533000	0.62120	AAG		0.463	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		93	253	0	0	0	1	0	93	253				
GLI3	2737	broad.mit.edu	37	7	42005592	42005592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005592G>T	ENST00000395925.3	-	15	3163	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1027					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGCTGCTGAGGCTGCTGAAG	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3079-3081)Ctc>Atc		GLI family zinc finger 3							15.0	17.0	16.0					7																	42005592		2196	4291	6487	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005592G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3079C>A	7.37:g.42005592G>T	ENSP00000379258:p.Leu1027Ile					GLI3_ENST00000479210.1_5'UTR	p.L1027I	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3163	-			1027					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3079C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622484	0.46840	.	.	ENSG00000106571	ENST00000395925	T	0.16743	2.32	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	M	0.70595	2.14	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.03384	-1.1042	10	0.46703	T	0.11	.	19.025	0.92929	0.0:0.0:1.0:0.0	.	1027	P10071	GLI3_HUMAN	I	1027	ENSP00000379258:L1027I	ENSP00000379258:L1027I	L	-	1	0	GLI3	41972117	1.000000	0.71417	0.979000	0.43373	0.014000	0.08584	4.491000	0.60326	2.473000	0.83533	0.563000	0.77884	CTC		0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		36	140	1	0	1.49673e-21	1	1.68722e-21	36	140				
TMOD2	29767	broad.mit.edu	37	15	52058709	52058709	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52058709T>G	ENST00000249700.4	+	2	292	c.71T>G	c.(70-72)cTc>cGc	p.L24R	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.L24R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	24					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		CTTGGCAAACTCTCAGAAGAG	0.418																																						ENST00000249700.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(70-72)cTc>cGc		tropomodulin 2 (neuronal)							126.0	117.0	120.0					15																	52058709		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52058709T>G	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.71T>G	15.37:g.52058709T>G	ENSP00000249700:p.Leu24Arg					TMOD2_ENST00000435126.2_Missense_Mutation_p.L24R|TMOD2_ENST00000539962.2_5'UTR	p.L24R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	2	292	+			24					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.71T>G	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732686	0.89482	.	.	ENSG00000128872	ENST00000435126;ENST00000249700	T;T	0.51817	0.69;0.69	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80917	-0.1168	10	0.87932	D	0	-9.5235	16.0592	0.80826	0.0:0.0:0.0:1.0	.	24;24	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	R	24	ENSP00000404590:L24R;ENSP00000249700:L24R	ENSP00000249700:L24R	L	+	2	0	TMOD2	49846001	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.196000	0.70406	0.482000	0.46254	CTC		0.418	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			9	493	0	0	0	1	0	9	493				
SRR	63826	broad.mit.edu	37	17	2226545	2226545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2226545C>T	ENST00000344595.5	+	7	1028	c.710C>T	c.(709-711)gCa>gTa	p.A237V	SRR_ENST00000576848.1_Missense_Mutation_p.A11V|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	237					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	GAAACCATAGCAGATGGTGTC	0.463																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(709-711)gCa>gTa		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						157.0	146.0	149.0					17																	2226545		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2226545C>T	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.710C>T	17.37:g.2226545C>T	ENSP00000339435:p.Ala237Val					SRR_ENST00000576848.1_3'UTR|TSR1_ENST00000301364.4_3'UTR	p.A237V	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	7	1028	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	237					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.710C>T	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694601	0.88830	.	.	ENSG00000167720	ENST00000344595	D	0.97455	-4.39	5.88	5.88	0.94601	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.224065	0.47455	N	0.000236	D	0.98704	0.9565	M	0.90595	3.13	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.99421	1.0933	10	0.87932	D	0	-23.5163	19.2253	0.93816	0.0:1.0:0.0:0.0	.	237	Q9GZT4	SRR_HUMAN	V	237	ENSP00000339435:A237V	ENSP00000339435:A237V	A	+	2	0	SRR	2173295	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.992000	0.63889	2.788000	0.95919	0.555000	0.69702	GCA		0.463	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		17	654	0	0	0	1	0	17	654				
PRDM2	7799	broad.mit.edu	37	1	14105221	14105221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105221C>T	ENST00000235372.7	+	8	1787	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	311	Retinoblastoma protein binding.			EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCCAGAAATACGGTGTGATGA	0.423																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(931-933)Cgg>Tgg		PR domain containing 2, with ZNF domain							93.0	93.0	93.0					1																	14105221		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105221C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.931C>T	1.37:g.14105221C>T	ENSP00000235372:p.Arg311Trp					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W	p.R311W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1787	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	311	EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 4; AAA87023).		Retinoblastoma protein binding.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.931C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927125	0.34002	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01705	4.79;4.68;4.68;4.68	5.67	4.73	0.59995	.	0.997794	0.08122	N	0.994503	T	0.07908	0.0198	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.89917	0.999;0.978;1.0;1.0	P;B;D;D	0.64321	0.841;0.328;0.922;0.924	T	0.37753	-0.9692	10	0.72032	D	0.01	.	11.1206	0.48287	0.0:0.7614:0.2386:0.0	.	311;169;311;311	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	W	311;311;311;110;110	ENSP00000235372:R311W;ENSP00000312352:R311W;ENSP00000411103:R110W;ENSP00000341621:R110W	ENSP00000235372:R311W	R	+	1	2	PRDM2	13977808	0.000000	0.05858	0.822000	0.32727	0.952000	0.60782	0.436000	0.21526	2.666000	0.90696	0.561000	0.74099	CGG		0.423	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		84	318	0	0	0	1	0	84	318				
IGSF10	285313	broad.mit.edu	37	3	151154517	151154517	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151154517A>T	ENST00000282466.3	-	6	7831	c.7832T>A	c.(7831-7833)cTt>cAt	p.L2611H	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2611	Ig-like C2-type 12.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCACTACCAAGTGGGTTCTT	0.383																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(7831-7833)cTt>cAt		immunoglobulin superfamily, member 10							121.0	121.0	121.0					3																	151154517		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151154517A>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7832T>A	3.37:g.151154517A>T	ENSP00000282466:p.Leu2611His					IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	p.L2611H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7831	-			2611			Ig-like C2-type 12.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.7832T>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780214	0.70222	.	.	ENSG00000152580	ENST00000282466	T	0.68765	-0.35	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40908	D	0.000993	T	0.70107	0.3186	N	0.20401	0.57	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.969	T	0.71331	-0.4625	10	0.38643	T	0.18	.	15.5146	0.75812	1.0:0.0:0.0:0.0	.	2611;638	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	H	2611	ENSP00000282466:L2611H	ENSP00000282466:L2611H	L	-	2	0	IGSF10	152637207	1.000000	0.71417	0.075000	0.20258	0.984000	0.73092	8.851000	0.92205	2.123000	0.65237	0.533000	0.62120	CTT		0.383	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		122	589	0	0	0	1	0	122	589				
SYT5	6861	broad.mit.edu	37	19	55687085	55687085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687085C>T	ENST00000354308.3	-	5	901	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	178	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTGAAGGCGAAGGTCTCC	0.627																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(532-534)Gcc>Acc		synaptotagmin V							124.0	114.0	117.0					19																	55687085		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687085C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.532G>A	19.37:g.55687085C>T	ENSP00000346265:p.Ala178Thr					SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|CTD-2587H24.5_ENST00000591665.1_RNA	p.A178T	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	901	-			178			C2 1.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.532G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727184	0.15439	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.67698	-0.28;-0.28	4.54	3.41	0.39046	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.319059	0.33199	N	0.005177	T	0.22859	0.0552	N	0.00595	-1.35	0.32241	N	0.572744	B;B;B	0.21753	0.047;0.06;0.008	B;B;B	0.20955	0.032;0.005;0.01	T	0.46569	-0.9182	10	0.02654	T	1	.	3.4824	0.07607	0.2164:0.5961:0.0:0.1876	.	175;178;178	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	T	178;178;175	ENSP00000442896:A178T;ENSP00000346265:A178T	ENSP00000346265:A178T	A	-	1	0	SYT5	60378897	0.910000	0.30920	0.990000	0.47175	0.955000	0.61496	1.263000	0.33004	2.480000	0.83734	0.555000	0.69702	GCC		0.627	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		66	373	0	0	0	1	0	66	373				
GGT7	2686	broad.mit.edu	37	20	33447341	33447341	+	Missense_Mutation	SNP	G	G	A	rs199667196		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33447341G>A	ENST00000336431.5	-	7	963	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	307					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGTCGGGCCGATGCAGCAAC	0.662																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(919-921)Cgg>Tgg		gamma-glutamyltransferase 7		G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	32.0	26.0	28.0		919	0.9	0.5	20		28	0,8596		0,0,4298	yes	missense	GGT7	NM_178026.2	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	307/663	33447341	1,12999	2202	4298	6500	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33447341G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.919C>T	20.37:g.33447341G>A	ENSP00000338964:p.Arg307Trp						p.R307W	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			7	963	-			307					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.919C>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305865	0.60305	2.27E-4	0.0	ENSG00000131067	ENST00000336431	T	0.07567	3.18	5.84	0.916	0.19373	.	0.059319	0.64402	D	0.000003	T	0.25975	0.0633	M	0.71871	2.18	0.32068	N	0.594845	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.39121	-0.9629	10	0.66056	D	0.02	-16.4042	15.8612	0.79021	0.0:0.0:0.4708:0.5292	.	307;307	A4FU32;Q9UJ14	.;GGT7_HUMAN	W	307	ENSP00000338964:R307W	ENSP00000338964:R307W	R	-	1	2	GGT7	32911002	0.990000	0.36364	0.514000	0.27761	0.736000	0.42039	2.037000	0.41174	0.322000	0.23283	0.561000	0.74099	CGG		0.662	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		26	107	0	0	0	1	0	26	107				
MFRP	83552	broad.mit.edu	37	11	119212585	119212585	+	Silent	SNP	C	C	T	rs375425631		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119212585C>T	ENST00000530681.1	-	12	1641	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	MFRP_ENST00000449574.2_Silent_p.E499E|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Silent_p.E499E|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000360167.4_Intron|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	499	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CGCTGAGGACCTCTACCACCT	0.632																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1495-1497)gaG>gaA		membrane frizzled-related protein		C	,	0,4398		0,0,2199	94.0	83.0	86.0		,1497	-3.6	0.1	11		86	4,8586	3.7+/-12.6	0,4,4291	no	utr-5,coding-synonymous	MFRP,C1QTNF5	NM_015645.3,NM_031433.2	,	0,4,6490	TT,TC,CC		0.0466,0.0,0.0308	,	,499/580	119212585	4,12984	2199	4295	6494	SO:0001819	synonymous_variant	83552							g.chr11:119212585C>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1497G>A	11.37:g.119212585C>T						MFRP_ENST00000360167.4_Intron|MFRP_ENST00000530681.1_Silent_p.E499E|MFRP_ENST00000449574.2_Silent_p.E499E|C1QTNF5_ENST00000445041.2_5'UTR	p.E499E	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	12	1656	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	ENST00000530681.1	37	c.1497G>A	CCDS8421.1																																																																																				0.632	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		62	238	0	0	0	1	0	62	238				
TTC7A	57217	broad.mit.edu	37	2	47221507	47221507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47221507G>T	ENST00000319190.5	+	7	1223	c.855G>T	c.(853-855)aaG>aaT	p.K285N	TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	285					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGCGGCCAAGCACCTGGCGG	0.617																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(853-855)aaG>aaT		tetratricopeptide repeat domain 7A							90.0	96.0	94.0					2																	47221507		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47221507G>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.855G>T	2.37:g.47221507G>T	ENSP00000316699:p.Lys285Asn					TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N	p.K285N	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		7	1223	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	285					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.855G>T	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275418	0.59649	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.32023	1.88;1.88;1.47	4.63	2.82	0.32997	.	0.346876	0.29205	N	0.012822	T	0.25082	0.0609	L	0.36672	1.1	0.80722	D	1	D;P;P;P;P	0.53619	0.961;0.57;0.835;0.651;0.696	B;B;B;B;B	0.43360	0.417;0.096;0.272;0.122;0.196	T	0.02975	-1.1087	10	0.72032	D	0.01	-23.2989	9.8632	0.41127	0.1717:0.0:0.8283:0.0	.	285;251;285;113;251	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	N	251;285;285;112	ENSP00000386307:K251N;ENSP00000316699:K285N;ENSP00000378320:K285N	ENSP00000316699:K285N	K	+	3	2	TTC7A	47075011	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.442000	0.35046	0.679000	0.31345	0.655000	0.94253	AAG		0.617	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		33	934	1	0	8.58068e-18	1	9.49213e-18	33	934				
ABHD17B	51104	broad.mit.edu	37	9	74489764	74489764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74489764C>T	ENST00000333421.6	-	2	344	c.233G>A	c.(232-234)aGa>aAa	p.R78K	ABHD17B_ENST00000377041.2_Missense_Mutation_p.R78K	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	78						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										ACAAGCAATTCTGTTGCCTTT	0.398																																						ENST00000333421.6																			0											c.(232-234)aGa>aAa		abhydrolase domain containing 17B							202.0	178.0	187.0					9																	74489764		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74489764C>T	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.233G>A	9.37:g.74489764C>T	ENSP00000330222:p.Arg78Lys					ABHD17B_ENST00000377041.2_Missense_Mutation_p.R78K	p.R78K	NM_001025780.1	NP_001020951.1					2	344	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.233G>A	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036725	0.54896	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.43688	0.94;0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.52905	1.665	0.50813	D	0.999892	B;B	0.13145	0.004;0.007	B;B	0.14578	0.008;0.011	T	0.20907	-1.0261	10	0.21540	T	0.41	-9.0591	20.8794	0.99867	0.0:1.0:0.0:0.0	.	78;78	Q5VST6;Q5VST6-2	F108B_HUMAN;.	K	78	ENSP00000366240:R78K;ENSP00000330222:R78K	ENSP00000330222:R78K	R	-	2	0	FAM108B1	73679584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	2.941000	0.99782	0.655000	0.94253	AGA		0.398	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		132	516	0	0	0	1	0	132	516				
DHRS4L2	317749	broad.mit.edu	37	14	24470603	24470603	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24470603C>A	ENST00000335125.6	+	6	668	c.542C>A	c.(541-543)cCt>cAt	p.P181H	DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	179						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGCTTCAGTCCTTACAATGTC	0.478																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(541-543)cCt>cAt		dehydrogenase/reductase (SDR family) member 4 like 2							97.0	117.0	111.0					14																	24470603		2141	4300	6441	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24470603C>A		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.542C>A	14.37:g.24470603C>A	ENSP00000334801:p.Pro181His					DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000397071.1_Intron	p.P181H	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	6	668	+			119					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.542C>A	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	7.332	0.619136	0.14129	.	.	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000537912;ENST00000382755	D;T;D	0.87256	-2.23;0.69;-2.23	2.85	0.915	0.19366	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	N	0.10733	0.035	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.76575	0.98;0.948;0.988	T	0.79205	-0.1899	10	0.52906	T	0.07	.	6.6805	0.23117	0.0:0.7399:0.0:0.2601	.	106;179;179	F6TD35;D3YTE6;Q6PKH6	.;.;DR4L2_HUMAN	H	119;181;106;179	ENSP00000334801:P181H;ENSP00000439942:P106H;ENSP00000372203:P179H	ENSP00000334801:P181H	P	+	2	0	DHRS4L2	23540443	0.998000	0.40836	0.148000	0.22405	0.107000	0.19398	4.550000	0.60733	0.091000	0.17302	0.194000	0.17425	CCT		0.478	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			117	632	1	0	4.37143e-48	1	5.39033e-48	117	632				
TTN	7273	broad.mit.edu	37	2	179567333	179567333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179567333G>A	ENST00000591111.1	-	105	29554	c.29330C>T	c.(29329-29331)tCt>tTt	p.S9777F	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S10094F|TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13855	Ig-like 79.				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)			AAAGGTGGCAGACTGATGCTC	0.408																																						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.(30280-30282)tCt>tTt		titin							160.0	157.0	158.0					2																	179567333		2018	4182	6200	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179567333G>A	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.29330C>T	2.37:g.179567333G>A	ENSP00000465570:p.Ser9777Phe					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9777F	p.S10094F	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)		107	30505	-			9777			Glu-rich.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.30281C>T		.	.	.	.	.	.	.	.	.	.	G	17.69	3.451783	0.63290	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88081	0.6341	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.89989	0.4106	9	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	9777	Q8WZ42	TITIN_HUMAN	F	8850	ENSP00000343764:S8850F	ENSP00000343764:S8850F	S	-	2	0	TTN	179275578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.704000	0.92352	0.655000	0.94253	TCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	482	0	0	0	1	0	14	482				
CHD6	84181	broad.mit.edu	37	20	40050062	40050062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40050062G>A	ENST00000373233.3	-	31	5390	c.5213C>T	c.(5212-5214)tCa>tTa	p.S1738L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5212-5214)tCa>tTa		chromodomain helicase DNA binding protein 6							89.0	92.0	91.0					20																	40050062		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40050062G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5213C>T	20.37:g.40050062G>A	ENSP00000362330:p.Ser1738Leu						p.S1738L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5390	-		Myeloproliferative disorder(115;0.00425)	1738					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5213C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	4.040	0.005104	0.07866	.	.	ENSG00000124177	ENST00000373233	D	0.85773	-2.03	6.03	5.0	0.66597	.	0.290117	0.25352	N	0.031290	T	0.72244	0.3436	N	0.12746	0.255	0.22034	N	0.999407	B	0.02656	0.0	B	0.04013	0.001	T	0.60850	-0.7181	10	0.41790	T	0.15	-11.2026	11.7484	0.51835	0.1082:0.0:0.8918:0.0	.	1738	Q8TD26	CHD6_HUMAN	L	1738	ENSP00000362330:S1738L	ENSP00000362330:S1738L	S	-	2	0	CHD6	39483476	0.275000	0.24201	0.073000	0.20177	0.002000	0.02628	1.859000	0.39418	2.861000	0.98227	0.655000	0.94253	TCA		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			24	460	0	0	0	1	0	24	460				
TRIO	7204	broad.mit.edu	37	5	14336786	14336786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336786C>T	ENST00000344204.4	+	11	2020	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	666					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTTGAGCAGCGAAAGATCCT	0.498																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1996-1998)Cga>Tga		trio Rho guanine nucleotide exchange factor							103.0	89.0	94.0					5																	14336786		2203	4300	6503	SO:0001587	stop_gained	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14336786C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1996C>T	5.37:g.14336786C>T	ENSP00000339299:p.Arg666*					TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*	p.R666*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			11	2020	+	Lung NSC(4;0.000742)		666					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	c.1996C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	40	8.039053	0.98624	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.46	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4675	0.61263	0.303:0.697:0.0:0.0	.	.	.	.	X	666;666;617;353	.	ENSP00000339299:R666X	R	+	1	2	TRIO	14389786	1.000000	0.71417	0.775000	0.31657	0.959000	0.62525	3.196000	0.51020	1.211000	0.43351	0.650000	0.86243	CGA		0.498	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		38	230	0	0	0	1	0	38	230				
KDM6B	23135	broad.mit.edu	37	17	7751581	7751581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751581G>A	ENST00000448097.2	+	11	2306	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	KDM6B_ENST00000254846.5_Missense_Mutation_p.G659R			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	659	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGTGCCGCCCGGGGTTGGGGA	0.687																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1975-1977)Ggg>Agg		lysine (K)-specific demethylase 6B							25.0	32.0	30.0					17																	7751581		2072	4103	6175	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751581G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1975G>A	17.37:g.7751581G>A	ENSP00000412513:p.Gly659Arg					KDM6B_ENST00000448097.2_Missense_Mutation_p.G659R	p.G659R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2364	+			659			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1975G>A		.	.	.	.	.	.	.	.	.	.	G	1.555	-0.538130	0.04082	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.07216	3.21;3.21	4.52	-3.84	0.04256	.	1.227230	0.05789	N	0.609988	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	10	0.28530	T	0.3	0.4754	11.6493	0.51279	0.3807:0.0:0.6193:0.0	.	659	O15054-1	.	R	659	ENSP00000254846:G659R;ENSP00000412513:G659R	ENSP00000254846:G659R	G	+	1	0	KDM6B	7692306	0.003000	0.15002	0.056000	0.19401	0.038000	0.13279	-0.068000	0.11561	-0.664000	0.05324	-2.436000	0.00213	GGG		0.687	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		97	390	0	0	0	1	0	97	390				
PIAS2	9063	broad.mit.edu	37	18	44470643	44470643	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470643C>A	ENST00000585916.1	-	2	398	c.399G>T	c.(397-399)caG>caT	p.Q133H	PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	133					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GAGATGGCTGCTGCATCTCAA	0.473																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(397-399)caG>caT		protein inhibitor of activated STAT, 2							110.0	88.0	95.0					18																	44470643		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470643C>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.399G>T	18.37:g.44470643C>A	ENSP00000465676:p.Gln133His					PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H	p.Q133H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			2	398	-			133					O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.399G>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154880	0.38021	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.32515	1.45	6.06	6.06	0.98353	.	0.050470	0.85682	D	0.000000	T	0.27798	0.0684	L	0.28274	0.84	0.80722	D	1	B;B;B;B	0.26512	0.012;0.007;0.151;0.057	B;B;B;B	0.25884	0.012;0.005;0.064;0.029	T	0.02477	-1.1153	10	0.42905	T	0.14	-6.6939	20.6244	0.99512	0.0:1.0:0.0:0.0	.	137;133;133;133	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	H	133;133;129;133	ENSP00000317163:Q133H	ENSP00000262161:Q133H	Q	-	3	2	PIAS2	42724641	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	3.066000	0.50002	2.879000	0.98667	0.650000	0.86243	CAG		0.473	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		41	170	1	0	1.96642e-18	1	2.182e-18	41	170				
USP28	57646	broad.mit.edu	37	11	113702669	113702669	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113702669T>C	ENST00000003302.4	-	8	874	c.806A>G	c.(805-807)gAc>gGc	p.D269G	USP28_ENST00000542033.1_Intron|USP28_ENST00000544967.1_5'Flank|USP28_ENST00000537706.1_Missense_Mutation_p.D269G|USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000260188.5_Missense_Mutation_p.D269G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	269	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTGGAATGCGTCCTCTAGCCA	0.408																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(805-807)gAc>gGc		ubiquitin specific peptidase 28							112.0	92.0	99.0					11																	113702669		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113702669T>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.806A>G	11.37:g.113702669T>C	ENSP00000003302:p.Asp269Gly					USP28_ENST00000260188.5_Missense_Mutation_p.D269G|USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000537706.1_Missense_Mutation_p.D269G|USP28_ENST00000542033.1_Intron	p.D269G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	8	874	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	269					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.806A>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741660	0.89573	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.992;0.999	T	0.47484	-0.9114	10	0.49607	T	0.09	-26.2298	15.0622	0.71964	0.0:0.0:0.0:1.0	.	144;269;269	B4E3L3;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	G	269;269;144;33;269;168	ENSP00000003302:D269G;ENSP00000260188:D269G;ENSP00000444991:D144G;ENSP00000442257:D33G;ENSP00000445743:D269G;ENSP00000440799:D168G	ENSP00000003302:D269G	D	-	2	0	USP28	113207879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.707000	0.68370	2.011000	0.59026	0.460000	0.39030	GAC		0.408	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			12	201	0	0	0	1	0	12	201				
ARRDC2	27106	broad.mit.edu	37	19	18119532	18119532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18119532C>T	ENST00000222250.4	+	2	430	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ARRDC2_ENST00000379656.3_Missense_Mutation_p.T91I|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	96					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						ACCGGGGAGACCACGACGCTG	0.657																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(286-288)aCc>aTc		arrestin domain containing 2							68.0	71.0	70.0					19																	18119532		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18119532C>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.287C>T	19.37:g.18119532C>T	ENSP00000222250:p.Thr96Ile					ARRDC2_ENST00000379656.2_Missense_Mutation_p.T91I|ARRDC2_ENST00000595712.1_3'UTR	p.T96I	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			2	430	+			96					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.287C>T	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	C	6.628	0.484246	0.12641	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.13901	3.38;2.55	4.38	0.983	0.19767	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.742565	0.13154	N	0.409615	T	0.06781	0.0173	N	0.12637	0.245	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42413	-0.9453	10	0.20046	T	0.44	-1.567	8.174	0.31270	0.0:0.5569:0.0:0.4431	.	96;91	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	I	91;96	ENSP00000368977:T91I;ENSP00000222250:T96I	ENSP00000222250:T96I	T	+	2	0	ARRDC2	17980532	0.001000	0.12720	0.003000	0.11579	0.550000	0.35303	0.229000	0.17833	0.080000	0.16959	0.561000	0.74099	ACC		0.657	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		77	434	0	0	0	1	0	77	434				
PHF11	51131	broad.mit.edu	37	13	50080886	50080886	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50080886T>G	ENST00000378319.3	+	2	251	c.210T>G	c.(208-210)aaT>aaG	p.N70K	PHF11_ENST00000357596.3_Missense_Mutation_p.N31K|PHF11_ENST00000488958.1_Missense_Mutation_p.N31K	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	70					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)		CTCATGAGAATTGTTTGGTAA	0.343																																						ENST00000357596.3																			0				large_intestine(3)|lung(1)	4						c.(91-93)aaT>aaG		PHD finger protein 11							87.0	74.0	78.0					13																	50080886		2203	4300	6503	SO:0001583	missense	51131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr13:50080886T>G	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.210T>G	13.37:g.50080886T>G	ENSP00000367570:p.Asn70Lys					PHF11_ENST00000378319.3_Missense_Mutation_p.N70K|PHF11_ENST00000488958.1_Missense_Mutation_p.N31K	p.N31K	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)	3	369	+		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)	70					Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	37	c.93T>G	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216685	0.58452	.	.	ENSG00000136147	ENST00000378319;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.55	0.94	0.19513	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.75085	2.285	0.43355	D	0.99542	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.73020	-0.4114	10	0.35671	T	0.21	-29.6694	6.4155	0.21714	0.0:0.3386:0.0:0.6614	.	70;70	B4DTX8;Q9UIL8	.;PHF11_HUMAN	K	70;31;31;31;31	ENSP00000367570:N70K;ENSP00000350209:N31K;ENSP00000420129:N31K;ENSP00000405227:N31K;ENSP00000417539:N31K	ENSP00000350209:N31K	N	+	3	2	PHF11	48978887	0.956000	0.32656	0.998000	0.56505	0.993000	0.82548	-0.295000	0.08298	0.088000	0.17205	0.528000	0.53228	AAT		0.343	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119		20	106	0	0	0	1	0	20	106				
SIRPA	140885	broad.mit.edu	37	20	1903222	1903222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1903222G>A	ENST00000358771.4	+	4	1170	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T|SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	340	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CGGGCAGCCAGCGGTCAGCAA	0.577																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1018-1020)Gcg>Acg		signal-regulatory protein alpha							56.0	48.0	50.0					20																	1903222		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1903222G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1018G>A	20.37:g.1903222G>A	ENSP00000351621:p.Ala340Thr					SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T|SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T	p.A340T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	4	1170	+			340			Ig-like C1-type 2.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1018G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142702	0.57044	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.09073	3.02;3.02;3.02	5.35	3.26	0.37387	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.593939	0.16053	N	0.231870	T	0.13500	0.0327	M	0.79475	2.455	0.09310	N	1	P;D;P	0.54047	0.79;0.964;0.889	B;B;P	0.44732	0.286;0.441;0.459	T	0.12656	-1.0539	10	0.48119	T	0.1	.	8.1172	0.30950	0.0:0.1926:0.6346:0.1728	.	320;340;340	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	340	ENSP00000382941:A340T;ENSP00000348307:A340T;ENSP00000351621:A340T	ENSP00000348307:A340T	A	+	1	0	SIRPA	1851222	0.048000	0.20356	0.113000	0.21522	0.081000	0.17604	1.072000	0.30678	1.607000	0.50170	-0.211000	0.12701	GCG		0.577	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		40	136	0	0	0	1	0	40	136				
IFIH1	64135	broad.mit.edu	37	2	163124694	163124694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163124694T>C	ENST00000263642.2	-	14	3105	c.2710A>G	c.(2710-2712)Act>Gct	p.T904A		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	904					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAAAGGAAAGTTATTAGTGAT	0.363																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(2710-2712)Act>Gct		interferon induced with helicase C domain 1							130.0	136.0	134.0					2																	163124694		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163124694T>C	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2710A>G	2.37:g.163124694T>C	ENSP00000263642:p.Thr904Ala						p.T904A	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			14	3105	-			904					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2710A>G	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034499	0.35893	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.43688	0.94	5.31	5.31	0.75309	C-terminal domain of RIG-I (1);	0.350310	0.35291	N	0.003313	T	0.39489	0.1080	M	0.62723	1.935	0.41933	D	0.990576	B	0.27765	0.188	B	0.24006	0.05	T	0.27400	-1.0075	10	0.13470	T	0.59	-0.9591	15.2788	0.73764	0.0:0.0:0.0:1.0	.	904	Q9BYX4	IFIH1_HUMAN	A	904	ENSP00000263642:T904A	ENSP00000263642:T904A	T	-	1	0	IFIH1	162832940	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.717000	0.68446	2.013000	0.59113	0.528000	0.53228	ACT		0.363	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		62	249	0	0	0	1	0	62	249				
OR4X2	119764	broad.mit.edu	37	11	48267277	48267277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267277G>T	ENST00000302329.3	+	1	670	c.622G>T	c.(622-624)Gca>Tca	p.A208S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCTCTTAGCATCCTATAT	0.517																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Gca>Tca		olfactory receptor, family 4, subfamily X, member 2							192.0	168.0	176.0					11																	48267277		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267277G>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.622G>T	11.37:g.48267277G>T	ENSP00000307751:p.Ala208Ser						p.A208S	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	670	+			208					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.622G>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040199	0.08148	.	.	ENSG00000172208	ENST00000302329	T	0.37235	1.21	5.37	0.603	0.17541	GPCR, rhodopsin-like superfamily (1);	0.378408	0.22553	N	0.058569	T	0.22244	0.0536	L	0.35487	1.065	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.13045	-1.0524	10	0.35671	T	0.21	.	4.8436	0.13503	0.1753:0.0:0.4144:0.4104	.	208	Q8NGF9	OR4X2_HUMAN	S	208	ENSP00000307751:A208S	ENSP00000307751:A208S	A	+	1	0	OR4X2	48223853	0.000000	0.05858	0.002000	0.10522	0.320000	0.28249	-1.070000	0.03440	0.201000	0.20466	0.650000	0.86243	GCA		0.517	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		97	582	1	0	1.31969e-37	1	1.58597e-37	97	582				
ZNF860	344787	broad.mit.edu	37	3	32031382	32031382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031382C>T	ENST00000360311.4	+	2	1360	c.811C>T	c.(811-813)Cga>Tga	p.R271*		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TAATCAGAAGCGATACCTTGC	0.368																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(811-813)Cga>Tga		zinc finger protein 860							114.0	89.0	97.0					3																	32031382		692	1591	2283	SO:0001587	stop_gained	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031382C>T	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.811C>T	3.37:g.32031382C>T	ENSP00000373274:p.Arg271*						p.R271*	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1360	+			271					B4DFA4	Nonsense_Mutation	SNP	ENST00000360311.4	37	c.811C>T	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789049	0.90367	.	.	ENSG00000197385	ENST00000360311	.	.	.	0.345	-0.691	0.11305	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5488	0.12098	0.0:0.2934:0.0:0.7066	.	.	.	.	X	271	.	.	R	+	1	2	ZNF860	32006386	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-2.051000	0.01402	-1.274000	0.02421	-1.289000	0.01358	CGA		0.368	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			63	385	0	0	0	1	0	63	385				
TTN	7273	broad.mit.edu	37	2	179636087	179636087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179636087C>T	ENST00000591111.1	-	34	8191	c.7967G>A	c.(7966-7968)gGc>gAc	p.G2656D	TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D|TTN_ENST00000360870.5_Missense_Mutation_p.G2656D			Q8WZ42	TITIN_HUMAN	titin	12981	Ig-like 15.				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)			TAGGTGTTTGCCATCCCTCAA	0.458																																						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.(7966-7968)gGc>gAc		titin							226.0	175.0	192.0					2																	179636087		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179636087C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7967G>A	2.37:g.179636087C>T	ENSP00000465570:p.Gly2656Asp					TTN_ENST00000360870.5_Missense_Mutation_p.G2656D|TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D|TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D|TTN_ENST00000591111.1_Missense_Mutation_p.G2656D	p.G2656D	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)		34	8191	-			2392			Ig-like 15.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.7967G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043155	0.55003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	6.17	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19525	0.0469	M	0.80183	2.485	0.41668	D	0.989228	B;B;B;B;P	0.37573	0.315;0.315;0.315;0.315;0.6	B;B;B;B;B	0.42319	0.214;0.214;0.214;0.214;0.383	T	0.01356	-1.1376	9	0.87932	D	0	.	15.8705	0.79117	0.0:0.9354:0.0:0.0646	.	2610;2610;2610;2656;2656	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2656;2610;2610;2610;2610;2656	ENSP00000343764:G2656D;ENSP00000434586:G2610D;ENSP00000340554:G2610D;ENSP00000352154:G2610D;ENSP00000354117:G2656D	ENSP00000340554:G2610D	G	-	2	0	TTN	179344332	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.087000	0.71362	1.631000	0.50456	0.655000	0.94253	GGC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	338	0	0	0	1	0	8	338				
DYRK1B	9149	broad.mit.edu	37	19	40318000	40318000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40318000C>T	ENST00000593685.1	-	8	1488	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DYRK1B_ENST00000430012.2_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000323039.5_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GAGCCTTGGGCGCCTGGTCCA	0.642																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1018-1020)gcG>gcA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							43.0	44.0	43.0					19																	40318000		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318000C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1020G>A	19.37:g.40318000C>T						DYRK1B_ENST00000430012.2_Silent_p.A340A|DYRK1B_ENST00000323039.5_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A	p.A340A			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		8	1488	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		340			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1020G>A	CCDS12543.1																																																																																				0.642	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		38	297	0	0	0	1	0	38	297				
TCEB3B	51224	broad.mit.edu	37	18	44559411	44559411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44559411G>A	ENST00000332567.4	-	1	2577	c.2225C>T	c.(2224-2226)gCa>gTa	p.A742V	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|TCEB3C_ENST00000330682.2_5'Flank|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	742					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCTCGAATTGCCTTGGCCAT	0.567																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2224-2226)gCa>gTa		transcription elongation factor B polypeptide 3B (elongin A2)							68.0	75.0	73.0					18																	44559411		2203	4296	6499	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559411G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2225C>T	18.37:g.44559411G>A	ENSP00000331302:p.Ala742Val					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A742V	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	2577	-			742					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.2225C>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078773	0.36662	.	.	ENSG00000206181	ENST00000332567	T	0.07567	3.18	1.62	-0.654	0.11443	.	0.693792	0.11843	N	0.524097	T	0.11153	0.0272	L	0.44542	1.39	0.09310	N	1	D	0.58268	0.982	P	0.54664	0.758	T	0.19386	-1.0307	10	0.41790	T	0.15	-1.6528	3.5071	0.07695	0.0:0.2844:0.4274:0.2882	.	742	Q8IYF1	ELOA2_HUMAN	V	742	ENSP00000331302:A742V	ENSP00000331302:A742V	A	-	2	0	TCEB3B	42813409	0.186000	0.23225	0.001000	0.08648	0.002000	0.02628	0.417000	0.21214	-0.196000	0.10366	-0.222000	0.12452	GCA		0.567	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		141	730	0	0	0	1	0	141	730				
GDAP1	54332	broad.mit.edu	37	8	75276322	75276322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75276322G>T	ENST00000220822.7	+	6	877	c.797G>T	c.(796-798)aGa>aTa	p.R266I	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	266	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTTGCAAGGAGAAACTGGGGA	0.478																																						ENST00000220822.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(796-798)aGa>aTa		ganglioside induced differentiation associated protein 1							88.0	86.0	87.0					8																	75276322		2203	4300	6503	SO:0001583	missense	54332					cytoplasm		g.chr8:75276322G>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.797G>T	8.37:g.75276322G>T	ENSP00000220822:p.Arg266Ile					GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I	p.R266I	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		6	877	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	266			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.797G>T	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083547	0.76642	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.97688	-4.49;-4.49	4.99	4.99	0.66335	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.70842	2.15	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	D	0.98190	1.0462	10	0.39692	T	0.17	-12.6828	18.8301	0.92135	0.0:0.0:1.0:0.0	.	266	Q8TB36	GDAP1_HUMAN	I	266;198	ENSP00000220822:R266I;ENSP00000417006:R198I	ENSP00000220822:R266I	R	+	2	0	GDAP1	75438877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.881000	0.63114	2.767000	0.95098	0.655000	0.94253	AGA		0.478	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		8	404	1	0	0.000157383	1	0.000159814	8	404				
GDAP2	54834	broad.mit.edu	37	1	118462854	118462854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118462854G>A	ENST00000369443.5	-	2	376	c.127C>T	c.(127-129)Cga>Tga	p.R43*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	43	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AAAGGTGATCGAACAGTGTCT	0.358																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(127-129)Cga>Tga		ganglioside induced differentiation associated protein 2							99.0	99.0	99.0					1																	118462854		2203	4300	6503	SO:0001587	stop_gained	54834							g.chr1:118462854G>A	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.127C>T	1.37:g.118462854G>A	ENSP00000358451:p.Arg43*					GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	2	376	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	43			Macro.		Q96DZ0	Nonsense_Mutation	SNP	ENST00000369443.5	37	c.127C>T	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500671	0.85176	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.22	-0.0107	0.13995	.	0.392143	0.28067	N	0.016740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.2569	11.4034	0.49883	0.0:0.0671:0.5995:0.3334	.	.	.	.	X	43	.	ENSP00000358450:R43X	R	-	1	2	GDAP2	118264377	0.980000	0.34600	0.089000	0.20774	0.378000	0.30076	0.652000	0.24888	-0.085000	0.12573	-0.271000	0.10264	CGA		0.358	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		32	307	0	0	0	1	0	32	307				
PPP1R42	286187	broad.mit.edu	37	8	67926689	67926689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67926689G>A	ENST00000324682.5	-	3	412	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	PPP1R42_ENST00000517834.1_Intron|PPP1R42_ENST00000522909.1_Missense_Mutation_p.L90F	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	90					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										AATGACCTGAGGTTCTCTATA	0.284																																						ENST00000522909.1																			0											c.(268-270)Ctc>Ttc		protein phosphatase 1, regulatory subunit 42							88.0	97.0	94.0					8																	67926689		2203	4292	6495	SO:0001583	missense	286187							g.chr8:67926689G>A	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.268C>T	8.37:g.67926689G>A	ENSP00000315035:p.Leu90Phe					PPP1R42_ENST00000324682.5_Missense_Mutation_p.L90F|PPP1R42_ENST00000517834.1_Intron	p.L90F			Q7Z4L9	LRC67_HUMAN			3	452	-			90						Missense_Mutation	SNP	ENST00000324682.5	37	c.268C>T	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418317	0.83449	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	M	0.82193	2.58	0.58432	D	0.999993	D	0.76494	0.999	D	0.76575	0.988	T	0.53989	-0.8360	10	0.87932	D	0	-2.997	15.5585	0.76219	0.0:0.0:0.8615:0.1385	.	90	Q7Z4L9-2	.	F	90	ENSP00000429721:L90F;ENSP00000315035:L90F	ENSP00000315035:L90F	L	-	1	0	LRRC67	68089243	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.291000	0.72719	2.721000	0.93114	0.591000	0.81541	CTC		0.284	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		82	413	0	0	0	1	0	82	413				
GRIN2B	2904	broad.mit.edu	37	12	13828724	13828724	+	Silent	SNP	C	C	T	rs201952040		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13828724C>T	ENST00000609686.1	-	4	1289	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	360					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCACCAGTTTCGGGTGCATCT	0.373																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1078-1080)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						127.0	124.0	125.0					12																	13828724		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13828724C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1080G>A	12.37:g.13828724C>T							p.P360P	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			4	1289	-			360					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.1080G>A	CCDS8662.1																																																																																				0.373	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			66	343	0	0	0	1	0	66	343				
PGM2L1	283209	broad.mit.edu	37	11	74054391	74054391	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74054391A>G	ENST00000298198.4	-	10	1600	c.1289T>C	c.(1288-1290)cTt>cCt	p.L430P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	430					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAATGCAAAAAGGACTTCTTT	0.318																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1288-1290)cTt>cCt		phosphoglucomutase 2-like 1							65.0	66.0	66.0					11																	74054391		2200	4292	6492	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74054391A>G	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1289T>C	11.37:g.74054391A>G	ENSP00000298198:p.Leu430Pro						p.L430P	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			10	1600	-	Breast(11;3.32e-06)		430					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1289T>C	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064889	0.76187	.	.	ENSG00000165434	ENST00000298198	T	0.47177	0.85	5.92	5.92	0.95590	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.225935	0.37955	N	0.001868	T	0.65428	0.2690	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.65734	-0.6096	10	0.48119	T	0.1	-21.5015	14.3046	0.66377	1.0:0.0:0.0:0.0	.	430	Q6PCE3	PGM2L_HUMAN	P	430	ENSP00000298198:L430P	ENSP00000298198:L430P	L	-	2	0	PGM2L1	73732039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.255000	0.74692	0.533000	0.62120	CTT		0.318	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		67	279	0	0	0	1	0	67	279				
LUM	4060	broad.mit.edu	37	12	91502072	91502072	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91502072T>C	ENST00000266718.4	-	2	1139	c.685A>G	c.(685-687)Aat>Gat	p.N229D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	229					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGCAATGCATTAAAACGCTTG	0.433																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(685-687)Aat>Gat		lumican							170.0	159.0	163.0					12																	91502072		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502072T>C	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.685A>G	12.37:g.91502072T>C	ENSP00000266718:p.Asn229Asp					LUM_ENST00000548071.1_Intron	p.N229D	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1139	-			229					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.685A>G	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737966	0.30774	.	.	ENSG00000139329	ENST00000266718	T	0.56611	0.45	5.84	4.7	0.59300	.	1.142620	0.06250	N	0.691833	T	0.42944	0.1225	N	0.16166	0.38	0.09310	N	1	B	0.16166	0.016	B	0.25987	0.065	T	0.43294	-0.9400	10	0.59425	D	0.04	-14.8601	11.6157	0.51088	0.0:0.0691:0.0:0.9309	.	229	P51884	LUM_HUMAN	D	229	ENSP00000266718:N229D	ENSP00000266718:N229D	N	-	1	0	LUM	90026203	0.517000	0.26226	0.037000	0.18230	0.844000	0.47949	2.745000	0.47459	1.049000	0.40321	0.455000	0.32223	AAT		0.433	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		115	573	0	0	0	1	0	115	573				
ZNF264	9422	broad.mit.edu	37	19	57722984	57722984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57722984G>T	ENST00000263095.6	+	4	933	c.519G>T	c.(517-519)caG>caT	p.Q173H	ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGATTGGACAGGAGCAAGTCT	0.468																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(517-519)caG>caT		zinc finger protein 264							104.0	94.0	98.0					19																	57722984		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57722984G>T	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.519G>T	19.37:g.57722984G>T	ENSP00000263095:p.Gln173His					ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	p.Q173H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	933	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	173					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.519G>T	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898262	0.33535	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.28069	1.63;1.63	2.35	1.19	0.21007	.	.	.	.	.	T	0.13114	0.0318	N	0.10664	0.02	0.25288	N	0.98938	P	0.36438	0.553	B	0.38712	0.28	T	0.18808	-1.0325	9	0.02654	T	1	.	7.8941	0.29695	0.1559:0.0:0.8441:0.0	.	173	O43296	ZN264_HUMAN	H	173	ENSP00000263095:Q173H;ENSP00000440376:Q173H	ENSP00000263095:Q173H	Q	+	3	2	ZNF264	62414796	0.001000	0.12720	0.005000	0.12908	0.043000	0.13939	-0.111000	0.10807	0.461000	0.27071	-0.378000	0.06908	CAG		0.468	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			60	219	1	0	2.83923e-41	1	3.44832e-41	60	219				
STXBP5	134957	broad.mit.edu	37	6	147684474	147684474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147684474C>T	ENST00000321680.6	+	24	2549	c.2549C>T	c.(2548-2550)aCt>aTt	p.T850I	STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I|STXBP5_ENST00000367481.3_Missense_Mutation_p.T814I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	850					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTTTAGGTACTATATTGAGG	0.333																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2440-2442)aCt>aTt		syntaxin binding protein 5 (tomosyn)							34.0	37.0	36.0					6																	147684474		2200	4298	6498	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147684474C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2549C>T	6.37:g.147684474C>T	ENSP00000321826:p.Thr850Ile					STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I|STXBP5_ENST00000321680.6_Missense_Mutation_p.T850I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I	p.T814I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	22	2549	+		Ovarian(120;0.0164)	850					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2441C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066018	0.55539	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.79	5.79	0.91817	.	0.101850	0.64402	D	0.000003	T	0.20740	0.0499	M	0.65975	2.015	0.58432	D	0.999999	P;P;P	0.36222	0.465;0.544;0.544	B;B;B	0.34242	0.178;0.086;0.162	T	0.02411	-1.1163	10	0.35671	T	0.21	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	814;850;505	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	I	189;814;850;797;505;174	ENSP00000356451:T814I;ENSP00000321826:T850I;ENSP00000356450:T797I;ENSP00000179882:T505I;ENSP00000376112:T174I	ENSP00000179882:T505I	T	+	2	0	STXBP5	147726167	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.744000	0.55112	2.746000	0.94184	0.655000	0.94253	ACT		0.333	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			37	160	0	0	0	1	0	37	160				
LECT1	11061	broad.mit.edu	37	13	53282672	53282672	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282672T>C	ENST00000377962.3	-	6	866	c.788A>G	c.(787-789)cAt>cGt	p.H263R	LECT1_ENST00000448904.2_Splice_Site_p.H263R			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	263					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAACGCACATGATAAGGATT	0.488																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.e6+1		leukocyte cell derived chemotaxin 1							175.0	148.0	157.0					13																	53282672		2203	4300	6503	SO:0001630	splice_region_variant	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282672T>C	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.789+1A>G	13.37:g.53282672T>C						LECT1_ENST00000377962.3_Splice_Site_p.H263_splice	p.H263_splice	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	898	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	263					Q5TAM4|Q8TAY6|Q9UM18	Splice_Site	SNP	ENST00000377962.3	37	c.789_splice	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819505	0.16607	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.28666	1.61;1.6	5.06	5.06	0.68205	.	0.094720	0.64402	D	0.000001	T	0.39886	0.1095	M	0.64997	1.995	0.49051	D	0.999742	P;P	0.41848	0.763;0.651	P;B	0.44990	0.466;0.276	T	0.37502	-0.9703	10	0.66056	D	0.02	.	15.114	0.72384	0.0:0.0:0.0:1.0	.	263;263	O75829-2;O75829	.;LECT1_HUMAN	R	263	ENSP00000388576:H263R;ENSP00000367198:H263R	ENSP00000367198:H263R	H	-	2	0	LECT1	52180673	1.000000	0.71417	0.998000	0.56505	0.042000	0.13812	5.407000	0.66363	2.044000	0.60594	0.454000	0.30748	CAT		0.488	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3		Missense_Mutation	46	234	0	0	0	1	0	46	234				
ZNF518A	9849	broad.mit.edu	37	10	97916210	97916210	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97916210C>T	ENST00000534948.1	+	0	988							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTCATTATGCACTAAAAAAT	0.269																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							41.0	41.0	41.0					10																	97916210		1791	4059	5850			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916210C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916210C>T										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	988	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.269	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		40	164	0	0	0	1	0	40	164				
GSG1L	146395	broad.mit.edu	37	16	27818817	27818817	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27818817A>T	ENST00000447459.2	-	6	973	c.889T>A	c.(889-891)Tac>Aac	p.Y297N	GSG1L_ENST00000380898.2_Missense_Mutation_p.Y160N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N|GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	297					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CGGGCAGGGTATCTCTCGTGG	0.512																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(478-480)Tac>Aac		GSG1-like							80.0	63.0	69.0					16																	27818817		2196	4300	6496	SO:0001583	missense	146395					integral to membrane		g.chr16:27818817A>T	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.889T>A	16.37:g.27818817A>T	ENSP00000394954:p.Tyr297Asn					GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N|GSG1L_ENST00000447459.2_Missense_Mutation_p.Y297N|GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N	p.Y160N			Q6UXU4	GSG1L_HUMAN			7	1027	-			297					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.478T>A	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447450	0.25987	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.39056	1.2;1.1	3.81	2.71	0.32032	.	0.845752	0.10437	N	0.674780	T	0.32585	0.0834	N	0.19112	0.55	0.29055	N	0.884258	P;P;P	0.50528	0.936;0.891;0.808	P;P;B	0.48227	0.534;0.571;0.212	T	0.14117	-1.0484	10	0.45353	T	0.12	.	6.0671	0.19870	0.8844:0.0:0.1156:0.0	.	246;160;297	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	297;246;160;142	ENSP00000394954:Y297N;ENSP00000379074:Y246N	ENSP00000370282:Y142N	Y	-	1	0	GSG1L	27726318	1.000000	0.71417	0.847000	0.33407	0.620000	0.37586	1.654000	0.37334	0.816000	0.34421	0.459000	0.35465	TAC		0.512	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		22	99	0	0	0	1	0	22	99				
CASP8AP2	9994	broad.mit.edu	37	6	90578293	90578293	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578293T>C	ENST00000551025.1	+	0	6721									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGTGGAAGACTTGGGATGTGG	0.403																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							87.0	81.0	83.0					6																	90578293		1924	4143	6067			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578293T>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578293T>C										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6721	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.403	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		35	121	0	0	0	1	0	35	121				
MIP	4284	broad.mit.edu	37	12	56848296	56848296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56848296C>T	ENST00000257979.4	-	1	130	c.102G>A	c.(100-102)tgG>tgA	p.W34*	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	34					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GTCCAGGAGCCCAGCGCAGTG	0.582																																						ENST00000257979.4																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						c.(100-102)tgG>tgA		major intrinsic protein of lens fiber							89.0	87.0	88.0					12																	56848296		2203	4300	6503	SO:0001587	stop_gained	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56848296C>T		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.102G>A	12.37:g.56848296C>T	ENSP00000257979:p.Trp34*					MIP_ENST00000555551.1_Intron	p.W34*	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN			1	130	-			34					Q17R41	Nonsense_Mutation	SNP	ENST00000257979.4	37	c.102G>A	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430354	0.96150	.	.	ENSG00000135517	ENST00000257979	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2643	18.1394	0.89634	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000257979:W34X	W	-	3	0	MIP	55134563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.657000	0.90304	0.655000	0.94253	TGG		0.582	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		73	391	0	0	0	1	0	73	391				
C9orf41	138199	broad.mit.edu	37	9	77611376	77611376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77611376A>C	ENST00000376834.3	-	6	1163	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	337										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GATTTATCCAAATTCCACCTG	0.308																																						ENST00000376834.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(1009-1011)atT>atG		chromosome 9 open reading frame 41							77.0	79.0	78.0					9																	77611376		2203	4291	6494	SO:0001583	missense	138199							g.chr9:77611376A>C	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.1011T>G	9.37:g.77611376A>C	ENSP00000366030:p.Ile337Met					C9orf41_ENST00000376837.3_3'UTR	p.I337M	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN			6	1163	-			337					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.1011T>G	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037682	0.54896	.	.	ENSG00000156017	ENST00000376834	T	0.03889	3.77	5.67	3.19	0.36642	N2227-like (1);	0.234938	0.42964	D	0.000638	T	0.12944	0.0314	M	0.62154	1.92	0.80722	D	1	D	0.59357	0.985	D	0.63877	0.919	T	0.01287	-1.1395	10	0.52906	T	0.07	-13.637	5.5966	0.17331	0.5278:0.0:0.0759:0.3963	.	337	Q8N4J0	CI041_HUMAN	M	337	ENSP00000366030:I337M	ENSP00000366030:I337M	I	-	3	3	C9orf41	76801196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.274000	0.33132	0.367000	0.24454	0.528000	0.53228	ATT		0.308	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		9	369	0	0	0	1	0	9	369				
NOTCH1	4851	broad.mit.edu	37	9	139390585	139390585	+	Missense_Mutation	SNP	C	C	T	rs111627256	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139390585C>T	ENST00000277541.6	-	34	7681	c.7606G>A	c.(7606-7608)Gtc>Atc	p.V2536I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2536					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)	p.V2537I(1)		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)		GGGCTGGAGACGCCCTCGGAC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			C|||	6	0.00119808	0.0023	0.0029	5008	,	,		13229	0.0		0.001	False		,,,				2504	0.0					ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		1	Substitution - Missense(1)	p.V2537I(1)	haematopoietic_and_lymphoid_tissue(1)	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	GRCh37	CM083740	NOTCH1	M	rs111627256	c.(7606-7608)Gtc>Atc		notch 1		C	ILE/VAL	2,3982		0,2,1990	18.0	25.0	23.0		7606	0.9	1.0	9	dbSNP_132	23	3,8311		0,3,4154	yes	missense	NOTCH1	NM_017617.3	29	0,5,6144	TT,TC,CC		0.0361,0.0502,0.0407	benign	2536/2556	139390585	5,12293	1992	4157	6149	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.chr9:139390585C>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.7606G>A	9.37:g.139390585C>T	ENSP00000277541:p.Val2536Ile	HNSCC(8;0.001)					p.V2536I	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7681	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2536					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.7606G>A	CCDS43905.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	C	2.729	-0.264917	0.05754	5.02E-4	3.61E-4	ENSG00000148400	ENST00000277541	T	0.74842	-0.88	4.83	0.936	0.19488	Domain of unknown function DUF3454, notch (1);	0.110491	0.64402	N	0.000015	T	0.40815	0.1132	N	0.02765	-0.5	0.25400	N	0.988454	B	0.09022	0.002	B	0.09377	0.004	T	0.37314	-0.9711	10	0.02654	T	1	.	7.9967	0.30271	0.0:0.2534:0.0:0.7466	.	2536	P46531	NOTC1_HUMAN	I	2536	ENSP00000277541:V2536I	ENSP00000277541:V2536I	V	-	1	0	NOTCH1	138510406	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.703000	0.37846	-0.037000	0.13646	0.462000	0.41574	GTC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	91	0	0	0	1	0	5	91				
LCT	3938	broad.mit.edu	37	2	136594308	136594308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136594308G>A	ENST00000264162.2	-	1	442	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	144	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CAAAGGCTTCGGTTCTCCGGA	0.597																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(430-432)acC>acT		lactase							107.0	95.0	99.0					2																	136594308		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594308G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.432C>T	2.37:g.136594308G>A							p.T144T	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	442	-			144			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.432C>T	CCDS2178.1																																																																																				0.597	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		77	201	0	0	0	1	0	77	201				
RORC	6097	broad.mit.edu	37	1	151787891	151787891	+	Silent	SNP	G	G	A	rs267598021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151787891G>A	ENST00000318247.6	-	5	416	c.309C>T	c.(307-309)ttC>ttT	p.F103F	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Silent_p.F82F|RORC_ENST00000392697.3_Silent_p.F157F	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	103	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACATGCGGCCGAACTTGACAG	0.552																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(244-246)ttC>ttT		RAR-related orphan receptor C							43.0	41.0	42.0					1																	151787891		2202	4298	6500	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151787891G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.309C>T	1.37:g.151787891G>A						RORC_ENST00000392697.3_Silent_p.F157F|RORC_ENST00000318247.6_Silent_p.F103F	p.F82F	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	400	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		103					Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.246C>T	CCDS1004.1																																																																																				0.552	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			49	260	0	0	0	1	0	49	260				
UCP3	7352	broad.mit.edu	37	11	73714966	73714966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73714966G>A	ENST00000314032.4	-	6	1282	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	UCP3_ENST00000348534.4_Missense_Mutation_p.R142W|UCP3_ENST00000426995.2_Missense_Mutation_p.R244W|UCP3_ENST00000545271.1_5'Flank	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	244					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTCATATACCGGGTCTTCACC	0.592																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(730-732)Cgg>Tgg		uncoupling protein 3 (mitochondrial, proton carrier)							63.0	64.0	64.0					11																	73714966		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73714966G>A	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.730C>T	11.37:g.73714966G>A	ENSP00000323740:p.Arg244Trp					UCP3_ENST00000426995.2_Missense_Mutation_p.R244W|UCP3_ENST00000348534.4_Missense_Mutation_p.R142W	p.R244W	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			6	1282	-	Breast(11;2.08e-05)		244					O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.730C>T	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379920	0.95945	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	D;D;D	0.84589	-1.82;-1.87;-1.82	5.07	5.07	0.68467	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98312	1.0524	10	0.87932	D	0	-0.9863	18.4155	0.90568	0.0:0.0:1.0:0.0	.	244	P55916	UCP3_HUMAN	W	244;142;244	ENSP00000323740:R244W;ENSP00000343615:R142W;ENSP00000392143:R244W	ENSP00000323740:R244W	R	-	1	2	UCP3	73392614	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.504000	0.60414	2.528000	0.85240	0.655000	0.94253	CGG		0.592	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		88	381	0	0	0	1	0	88	381				
HHLA3	11147	broad.mit.edu	37	1	70832204	70832204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70832204C>T	ENST00000359875.5	+	2	475	c.335C>T	c.(334-336)gCg>gTg	p.A112V	HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000370940.5_Nonsense_Mutation_p.R80*|HHLA3_ENST00000361764.4_3'UTR	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	112										large_intestine(3)|lung(1)	4						gaatttgaggcgaatccatag	0.413																																						ENST00000370940.5																			0				large_intestine(3)|lung(1)	4						c.(238-240)Cga>Tga		HERV-H LTR-associating 3							9.0	10.0	10.0					1																	70832204		2158	4207	6365	SO:0001583	missense	11147						protein binding	g.chr1:70832204C>T	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.335C>T	1.37:g.70832204C>T	ENSP00000352938:p.Ala112Val					HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000359875.5_Missense_Mutation_p.A112V|HHLA3_ENST00000361764.4_3'UTR	p.R80*	NM_001031693.2|NM_001036646.1	NP_001026863.1|NP_001031723.1	Q9XRX5	HHLA3_HUMAN			2	354	+			0					D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Nonsense_Mutation	SNP	ENST00000359875.5	37	c.238C>T	CCDS30753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.009|7.009	0.556444|0.556444	0.13436|0.13436	.|.	.|.	ENSG00000197568|ENSG00000197568	ENST00000359875;ENST00000531950|ENST00000370940;ENST00000432224	.|.	.|.	.|.	0.137|0.137	0.137|0.137	0.14787|0.14787	.|.	.|.	.|.	.|.	.|.	T|.	0.11793|.	0.0287|.	.|.	.|.	.|.	0.42570|0.42570	D|D	0.993172|0.993172	B|.	0.31611|.	0.331|.	B|.	0.17722|.	0.019|.	T|.	0.24119|.	-1.0169|.	6|.	0.87932|0.02654	D|T	0|1	.|.	.|.	.|.	.|.	.|.	112|.	Q9XRX5|.	HHLA3_HUMAN|.	V|X	112|80;113	.|.	ENSP00000352938:A112V|ENSP00000359978:R80X	A|R	+|+	2|1	0|2	HHLA3|HHLA3	70604792|70604792	0.003000|0.003000	0.15002|0.15002	0.016000|0.016000	0.15963|0.15963	0.016000|0.016000	0.09150|0.09150	0.283000|0.283000	0.18846|0.18846	0.291000|0.291000	0.22468|0.22468	0.297000|0.297000	0.19635|0.19635	GCG|CGA		0.413	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		9	82	0	0	0	1	0	9	82				
TNFSF13	8741	broad.mit.edu	37	17	7463164	7463164	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463164G>T	ENST00000338784.4	+	3	782	c.339G>T	c.(337-339)aaG>aaT	p.K113N	SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396545.4_Splice_Site_p.K113N|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396542.1_Intron|TNFSF13_ENST00000380535.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193N|TNFSF12_ENST00000557233.1_Splice_Site_p.K193N|TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000349228.4_Intron	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	113					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TCTCCTCAGAGCAGCACTCTG	0.562											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338784.4																			0				large_intestine(2)|lung(2)|skin(1)	5						c.e3-1		tumor necrosis factor (ligand) superfamily, member 13							128.0	134.0	132.0					17																	7463164		2203	4300	6503	SO:0001630	splice_region_variant	8741							g.chr17:7463164G>T	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.338-1G>T	17.37:g.7463164G>T			OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	641	TNFSF13_ENST00000396542.1_Intron|TNFSF13_ENST00000396545.4_Splice_Site_p.K113_splice|TNFSF12_ENST00000557233.1_Splice_Site_p.K193_splice|TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000349228.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193_splice|TNFSF13_ENST00000380535.4_Intron	p.K113_splice	NM_003808.3	NP_003799.1					3	782	+		Prostate(122;0.157)						A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Splice_Site	SNP	ENST00000338784.4	37	c.337_splice	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619682	0.28801	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000436057;ENST00000338784;ENST00000396545	D;D;T;D;D	0.97620	-4.46;-4.46;1.42;-3.86;-3.86	4.17	3.2	0.36748	.	0.967335	0.08562	N	0.927345	D	0.96562	0.8878	L	0.60455	1.87	0.80722	D	1	P;P;D	0.57257	0.501;0.634;0.979	B;B;P	0.54759	0.261;0.167;0.76	D	0.91970	0.5586	10	0.18276	T	0.48	.	8.0311	0.30465	0.1132:0.0:0.8868:0.0	.	113;113;193	O75888;O75888-3;Q8IZK7	TNF13_HUMAN;.;.	N	193;193;96;113;113	ENSP00000451451:K193N;ENSP00000293826:K193N;ENSP00000410094:K96N;ENSP00000343505:K113N;ENSP00000379794:K113N	ENSP00000293826:K193N	K	+	3	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7403888	0.963000	0.33076	0.981000	0.43875	0.104000	0.19210	1.446000	0.35090	1.102000	0.41551	0.462000	0.41574	AAG		0.562	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808	Missense_Mutation	14	462	1	0	1.05317e-09	1	1.11087e-09	14	462				
LAMA5	3911	broad.mit.edu	37	20	60922054	60922054	+	Silent	SNP	G	G	A	rs373324316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60922054G>A	ENST00000252999.3	-	7	1053	c.987C>T	c.(985-987)tgC>tgT	p.C329C	LAMA5_ENST00000370677.3_Silent_p.C329C|LAMA5_ENST00000370692.3_Silent_p.C329C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	329	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGTGCCCCCGCAGGTGTTGT	0.662																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(985-987)tgC>tgT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C		1,4403	2.1+/-5.4	0,1,2201	34.0	35.0	34.0		987	-6.9	0.1	20		34	0,8584		0,0,4292	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		329/3696	60922054	1,12987	2202	4292	6494	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60922054G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.987C>T	20.37:g.60922054G>A						LAMA5_ENST00000370677.3_Silent_p.C329C|LAMA5_ENST00000370692.3_Silent_p.C329C	p.C329C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		7	1053	-	Breast(26;1.57e-08)		329			Laminin EGF-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.987C>T	CCDS33502.1																																																																																				0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		35	163	0	0	0	1	0	35	163				
CCDC40	55036	broad.mit.edu	37	17	78024044	78024044	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78024044C>A	ENST00000397545.4	+	7	1148	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	CCDC40_ENST00000374877.3_Missense_Mutation_p.T374N|CCDC40_ENST00000269318.5_Missense_Mutation_p.T374N|CCDC40_ENST00000374876.4_Missense_Mutation_p.T374N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	374					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCTCTACACCAAGACCTGC	0.657																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1120-1122)aCc>aAc		coiled-coil domain containing 40							9.0	13.0	12.0					17																	78024044		2085	4205	6290	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78024044C>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1121C>A	17.37:g.78024044C>A	ENSP00000380679:p.Thr374Asn					CCDC40_ENST00000269318.5_Missense_Mutation_p.T374N|CCDC40_ENST00000374876.4_Missense_Mutation_p.T374N|CCDC40_ENST00000374877.3_Missense_Mutation_p.T374N	p.T374N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		7	1148	+	all_neural(118;0.167)		374					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1121C>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	8.144	0.785905	0.16189	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84944	0.94;-1.92;0.93;0.94	4.7	-1.27	0.09347	.	.	.	.	.	T	0.68632	0.3022	N	0.17474	0.49	0.09310	N	1	B;B;B	0.16603	0.018;0.003;0.001	B;B;B	0.16289	0.015;0.001;0.002	T	0.51849	-0.8653	9	0.11485	T	0.65	-6.5075	8.3251	0.32151	0.6184:0.2918:0.0:0.0898	.	374;374;157	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	N	374	ENSP00000364011:T374N;ENSP00000269318:T374N;ENSP00000364010:T374N;ENSP00000380679:T374N	ENSP00000269318:T374N	T	+	2	0	CCDC40	75638639	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	0.728000	0.26013	0.034000	0.15491	0.655000	0.94253	ACC		0.657	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		16	59	1	0	3.52763e-06	1	3.62938e-06	16	59				
RBM46	166863	broad.mit.edu	37	4	155749142	155749142	+	Missense_Mutation	SNP	T	T	C	rs564343316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155749142T>C	ENST00000281722.3	+	5	1760	c.1525T>C	c.(1525-1527)Tca>Cca	p.S509P	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	509							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTATCCTTTGTCACCAACAAT	0.433													T|||	1	0.000199681	0.0	0.0	5008	,	,		16339	0.0		0.0	False		,,,				2504	0.001					ENST00000281722.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(1525-1527)Tca>Cca		RNA binding motif protein 46							168.0	161.0	163.0					4																	155749142		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155749142T>C	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1525T>C	4.37:g.155749142T>C	ENSP00000281722:p.Ser509Pro					RBM46_ENST00000510397.1_3'UTR	p.S509P	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN			5	1760	+	all_hematologic(180;0.24)	Renal(120;0.0854)	509					B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.1525T>C	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923194	0.52653	.	.	ENSG00000151962	ENST00000281722	T	0.20463	2.07	5.67	4.49	0.54785	.	0.000000	0.43260	D	0.000590	T	0.09291	0.0229	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.15066	T	0.55	-10.9458	7.6213	0.28187	0.1256:0.0701:0.0:0.8043	.	509	Q8TBY0	RBM46_HUMAN	P	509	ENSP00000281722:S509P	ENSP00000281722:S509P	S	+	1	0	RBM46	155968592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.048000	0.49862	1.077000	0.40990	0.533000	0.62120	TCA		0.433	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		171	701	0	0	0	1	0	171	701				
CCDC25	55246	broad.mit.edu	37	8	27605727	27605727	+	Missense_Mutation	SNP	G	G	A	rs374219944		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605727G>A	ENST00000356537.4	-	7	511	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W|CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	140						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TCTGGGAACCGCTCGACTTTG	0.393																																						ENST00000356537.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(418-420)Cgg>Tgg		coiled-coil domain containing 25		G	TRP/ARG	0,4406		0,0,2203	126.0	122.0	123.0		418	3.7	1.0	8		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC25	NM_018246.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	140/209	27605727	1,13005	2203	4300	6503	SO:0001583	missense	55246							g.chr8:27605727G>A	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.418C>T	8.37:g.27605727G>A	ENSP00000348933:p.Arg140Trp					CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W	p.R140W	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	7	511	-		Ovarian(32;0.000953)	140					Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	c.418C>T	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375397	0.82682	0.0	1.16E-4	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	3.72	0.42706	.	0.061313	0.64402	D	0.000002	T	0.79293	0.4421	M	0.86651	2.83	0.46981	D	0.999275	D	0.89917	1.0	D	0.65987	0.94	T	0.81684	-0.0821	9	0.87932	D	0	-6.8299	12.373	0.55265	0.0:0.0:0.6832:0.3168	.	140	Q86WR0	CCD25_HUMAN	W	140;72;72	.	ENSP00000348933:R140W	R	-	1	2	CCDC25	27661646	0.993000	0.37304	0.988000	0.46212	0.964000	0.63967	3.511000	0.53400	0.644000	0.30656	0.655000	0.94253	CGG		0.393	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		19	452	0	0	0	1	0	19	452				
SUPV3L1	6832	broad.mit.edu	37	10	70940063	70940063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70940063G>A	ENST00000359655.4	+	1	76	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	6					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTCCCGTGCCCTATTGTG	0.697																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(16-18)Gcc>Acc		suppressor of var1, 3-like 1 (S. cerevisiae)							25.0	29.0	28.0					10																	70940063		2202	4299	6501	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940063G>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.16G>A	10.37:g.70940063G>A	ENSP00000352678:p.Ala6Thr					SUPV3L1_ENST00000483572.1_3'UTR	p.A6T	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			1	76	+			6					A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.16G>A	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991774	0.54041	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.37584	1.43;1.19	5.78	4.88	0.63580	.	0.224693	0.37136	N	0.002237	T	0.24314	0.0589	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.49607	T	0.09	0.8932	9.357	0.38173	0.0777:0.1447:0.7775:0.0	.	6	Q8IYB8	SUV3_HUMAN	T	6	ENSP00000352678:A6T;ENSP00000409072:A6T	ENSP00000352678:A6T	A	+	1	0	SUPV3L1	70610069	0.249000	0.23941	0.990000	0.47175	0.886000	0.51366	0.284000	0.18864	1.443000	0.47586	0.655000	0.94253	GCC		0.697	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		52	201	0	0	0	1	0	52	201				
PTRH1	138428	broad.mit.edu	37	9	130477960	130477960	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477960C>T	ENST00000419060.1	-	0	1415				PTRH1_ENST00000423807.1_De_novo_Start_InFrame|PTRH1_ENST00000543175.1_5'Flank|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						GACGTCATCACCCCGCAGCAG	0.667																																						ENST00000419060.1																			0				NS(1)	1								peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							13.0	14.0	14.0					9																	130477960		2194	4284	6478			138428				translation		aminoacyl-tRNA hydrolase activity|protein binding	g.chr9:130477960C>T	AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710		9.37:g.130477960C>T						PTRH1_ENST00000423807.1_De_novo_Start_InFrame|C9orf117_ENST00000373293.5_3'UTR|C9orf117_ENST00000464092.1_3'UTR				Q86Y79	PTH_HUMAN			0	1415	-									Translation_Start_Site	SNP	ENST00000419060.1	37		CCDS35147.1																																																																																				0.667	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	NM_001002913		16	73	0	0	0	1	0	16	73				
SMARCA4	6597	broad.mit.edu	37	19	11170476	11170476	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170476G>A	ENST00000429416.3	+	34	4964	c.4683G>A	c.(4681-4683)cgG>cgA	p.R1561R	SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000358026.2_Silent_p.R1593R|SMARCA4_ENST00000344626.4_Silent_p.R1561R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000590574.1_Silent_p.R1528R|SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000589677.1_Silent_p.R1530R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1561					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCAGCGTGCGGCAGAAAATCg	0.602			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4777-4779)cgG>cgA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							51.0	43.0	46.0					19																	11170476		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11170476G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4683G>A	19.37:g.11170476G>A						SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000589677.1_Silent_p.R1530R|SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000429416.3_Silent_p.R1561R|SMARCA4_ENST00000590574.1_Silent_p.R1528R|SMARCA4_ENST00000344626.4_Silent_p.R1561R	p.R1593R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			34	5063	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1561					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4779G>A	CCDS12253.1																																																																																				0.602	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		20	84	0	0	0	1	0	20	84				
MAP1S	55201	broad.mit.edu	37	19	17837219	17837219	+	Silent	SNP	C	C	T	rs370137934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17837219C>T	ENST00000324096.4	+	5	1177	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	342	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCAACGCCTGCGAGGCCGCGT	0.731																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(1024-1026)tgC>tgT		microtubule-associated protein 1S							6.0	7.0	6.0					19																	17837219		2098	4136	6234	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17837219C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1026C>T	19.37:g.17837219C>T						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C	p.C342C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	1177	+			342			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.1026C>T	CCDS32954.1																																																																																				0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		15	42	0	0	0	1	0	15	42				
GPR110	266977	broad.mit.edu	37	6	46989795	46989795	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46989795C>A	ENST00000371253.2	-	6	667		c.e6-1		GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCCAAATCTCTGTAGGAAAT	0.274																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.e6-1		G protein-coupled receptor 110							48.0	53.0	51.0					6																	46989795		2199	4287	6486	SO:0001630	splice_region_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46989795C>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.452-1G>T	6.37:g.46989795C>A						GPR110_ENST00000449332.2_Splice_Site|GPR110_ENST00000371243.2_Splice_Site		NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			6	667	-								Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Splice_Site	SNP	ENST00000371253.2	37		CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	7.976	0.750104	0.15778	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	.	.	.	5.62	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.743	0.46164	0.0:0.9121:0.0:0.0879	.	.	.	.	.	-1	.	.	.	-	.	.	GPR110	47097754	1.000000	0.71417	0.886000	0.34754	0.094000	0.18550	3.505000	0.53356	1.527000	0.49086	0.655000	0.94253	.		0.274	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	Intron	46	247	1	0	6.21074e-16	1	6.80439e-16	46	247				
DNAH2	146754	broad.mit.edu	37	17	7667264	7667264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7667264C>T	ENST00000572933.1	+	19	4554	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1032	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAATGAATGGCAGAACAAGTT	0.572																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3094-3096)Cag>Tag		dynein, axonemal, heavy chain 2							97.0	86.0	90.0					17																	7667264		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7667264C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3094C>T	17.37:g.7667264C>T	ENSP00000458355:p.Gln1032*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*	p.Q1032*			Q9P225	DYH2_HUMAN			19	4554	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1032			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.3094C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	42	9.586910	0.99213	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8308	0.85944	0.0:1.0:0.0:0.0	.	.	.	.	X	1032	.	ENSP00000353818:Q1032X	Q	+	1	0	DNAH2	7607989	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.871000	0.75531	2.251000	0.74343	0.555000	0.69702	CAG		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		70	273	0	0	0	1	0	70	273				
OR52A1	23538	broad.mit.edu	37	11	5173380	5173380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5173380C>T	ENST00000380367.1	-	2	637	c.220G>A	c.(220-222)Gca>Aca	p.A74T	OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	74					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCAAGTGCAATGTCTGTG	0.418																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(220-222)Gca>Aca		olfactory receptor, family 52, subfamily A, member 1							74.0	67.0	69.0					11																	5173380		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173380C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.220G>A	11.37:g.5173380C>T	ENSP00000369725:p.Ala74Thr					OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T	p.A74T			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	637	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	74					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.220G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657534	0.29425	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00402	7.56;7.56	5.37	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.806400	0.10768	N	0.636328	T	0.00384	0.0012	L	0.52823	1.66	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.40021	-0.9585	10	0.45353	T	0.12	.	8.5773	0.33605	0.271:0.6566:0.0:0.0724	.	74	Q9UKL2	O52A1_HUMAN	T	74	ENSP00000369725:A74T;ENSP00000333684:A74T	ENSP00000333684:A74T	A	-	1	0	OR52A1	5129956	0.000000	0.05858	0.328000	0.25416	0.711000	0.40976	0.037000	0.13840	0.380000	0.24823	0.655000	0.94253	GCA		0.418	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		40	167	0	0	0	1	0	40	167				
KLHL38	340359	broad.mit.edu	37	8	124664939	124664939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124664939C>T	ENST00000325995.7	-	1	251	c.228G>A	c.(226-228)caG>caA	p.Q76Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	76	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGCCTTTCAGCTGCACTTTGG	0.592																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(226-228)caG>caA		kelch-like family member 38							76.0	84.0	81.0					8																	124664939		2079	4200	6279	SO:0001819	synonymous_variant	340359							g.chr8:124664939C>T		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.228G>A	8.37:g.124664939C>T						CTD-2552K11.2_ENST00000524355.1_RNA	p.Q76Q	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	251	-			76			BTB.		A0PK12	Silent	SNP	ENST00000325995.7	37	c.228G>A	CCDS43766.1																																																																																				0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			11	321	0	0	0	1	0	11	321				
BEST3	144453	broad.mit.edu	37	12	70049199	70049199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049199G>T	ENST00000330891.5	-	10	1721	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	BEST3_ENST00000488961.1_Missense_Mutation_p.L286M|BEST3_ENST00000553096.1_Missense_Mutation_p.L393M|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	499					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCAGGTACCAGTGGCATTTTG	0.547																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1495-1497)Ctg>Atg		bestrophin 3							132.0	132.0	132.0					12																	70049199		2076	4208	6284	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049199G>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1495C>A	12.37:g.70049199G>T	ENSP00000332413:p.Leu499Met					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.L393M|BEST3_ENST00000488961.1_Missense_Mutation_p.L286M	p.L499M	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1721	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		499					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1495C>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153276	0.06585	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97906	-4.25;-4.6;-4.56	5.5	4.59	0.56863	.	0.763157	0.12006	N	0.508283	D	0.92714	0.7684	N	0.08118	0	0.19575	N	0.999961	B;B	0.14438	0.01;0.0	B;B	0.04013	0.001;0.001	D	0.86400	0.1741	10	0.46703	T	0.11	-2.0894	10.0521	0.42221	0.0:0.1495:0.6955:0.155	.	499;286	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	286;499;393	ENSP00000433213:L286M;ENSP00000332413:L499M;ENSP00000449548:L393M	ENSP00000332413:L499M	L	-	1	2	BEST3	68335466	0.014000	0.17966	0.021000	0.16686	0.017000	0.09413	1.913000	0.39956	1.267000	0.44247	0.563000	0.77884	CTG		0.547	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		82	702	1	0	2.27507e-24	1	2.6007e-24	82	702				
FHL3	2275	broad.mit.edu	37	1	38463411	38463411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463411G>A	ENST00000373016.3	-	5	801	c.633C>T	c.(631-633)gcC>gcT	p.A211A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	211	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCAAAACAGGCCACACAGT	0.587																																						ENST00000373016.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(631-633)gcC>gcT		four and a half LIM domains 3							80.0	78.0	79.0					1																	38463411		2203	4300	6503	SO:0001819	synonymous_variant	2275				muscle organ development		zinc ion binding	g.chr1:38463411G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.633C>T	1.37:g.38463411G>A						FHL3_ENST00000485803.1_5'UTR	p.A211A	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			5	801	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	211			LIM zinc-binding 3.		D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	ENST00000373016.3	37	c.633C>T	CCDS30678.1																																																																																				0.587	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		10	311	0	0	0	1	0	10	311				
IGKV1D-33	28896	broad.mit.edu	37	2	89952914	89952914	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:89952914C>A	ENST00000390265.2	+	0	123									immunoglobulin kappa variable 1D-33																		GCTCCTGGGGCTCCTGCTGCT	0.537																																						ENST00000390265.2																			0																				25.0	43.0	38.0					2																	89952914		1553	4052	5605			0							g.chr2:89952914C>A	M64855		2p11.2	2012-02-08			ENSG00000239975	ENSG00000239975		"""Immunoglobulins / IGK locus"""	5753	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151602		2.37:g.89952914C>A														0	123	+									RNA	SNP	ENST00000390265.2	37																																																																																						0.537	IGKV1D-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323274.1	NG_000833		21	312	1	0	6.21321e-17	1	6.84222e-17	21	312				
HIVEP1	3096	broad.mit.edu	37	6	12123223	12123223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123223C>T	ENST00000379388.2	+	4	3527	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3193-3195)ggC>ggT		human immunodeficiency virus type I enhancer binding protein 1							76.0	75.0	75.0					6																	12123223		1867	4098	5965	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123223C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3195C>T	6.37:g.12123223C>T							p.G1065G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	3527	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1065					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3195C>T	CCDS43426.1																																																																																				0.403	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		21	485	0	0	0	1	0	21	485				
DERL1	79139	broad.mit.edu	37	8	124054334	124054334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124054334C>T	ENST00000259512.4	-	1	329	c.29G>A	c.(28-30)aGc>aAc	p.S10N	RNY4P5_ENST00000362808.1_RNA|DERL1_ENST00000405944.3_Missense_Mutation_p.S10N|DERL1_ENST00000419562.2_Missense_Mutation_p.S10N	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	10					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCCGGGATGCTCCTGAACCA	0.667																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.(28-30)aGc>aAc		derlin 1							93.0	64.0	74.0					8																	124054334		2203	4300	6503	SO:0001583	missense	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124054334C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.29G>A	8.37:g.124054334C>T	ENSP00000259512:p.Ser10Asn					DERL1_ENST00000419562.2_Missense_Mutation_p.S10N|DERL1_ENST00000405944.3_Missense_Mutation_p.S10N	p.S10N	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	329	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		10					B3KW41|E9PH19	Missense_Mutation	SNP	ENST00000259512.4	37	c.29G>A	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439631	0.43326	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562	T;T;T	0.34072	2.83;1.63;1.38	5.79	5.79	0.91817	.	0.114972	0.85682	D	0.000000	T	0.30135	0.0755	N	0.26042	0.785	0.80722	D	1	B;B;B	0.14012	0.003;0.009;0.003	B;B;B	0.15052	0.002;0.012;0.008	T	0.04900	-1.0919	10	0.22706	T	0.39	.	20.039	0.97573	0.0:1.0:0.0:0.0	.	10;10;10	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	N	10	ENSP00000259512:S10N;ENSP00000384289:S10N;ENSP00000389965:S10N	ENSP00000259512:S10N	S	-	2	0	DERL1	124123515	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.261000	0.65496	2.743000	0.94032	0.453000	0.30009	AGC		0.667	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		32	129	0	0	0	1	0	32	129				
SEC24A	10802	broad.mit.edu	37	5	134032917	134032917	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134032917T>G	ENST00000398844.2	+	14	2376	c.2088T>G	c.(2086-2088)taT>taG	p.Y696*		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	696					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)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|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)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGGACAGTATTCTGATTTGG	0.348																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2086-2088)taT>taG		SEC24 family member A							213.0	196.0	202.0					5																	134032917		1863	4094	5957	SO:0001587	stop_gained	10802				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.chr5:134032917T>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2088T>G	5.37:g.134032917T>G	ENSP00000381823:p.Tyr696*						p.Y696*	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2376	+			696					A8MVW3|Q8WUV2|Q96GP7	Nonsense_Mutation	SNP	ENST00000398844.2	37	c.2088T>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	T	41	8.638871	0.98895	.	.	ENSG00000113615	ENST00000398844	.	.	.	5.59	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1559	8.6221	0.33866	0.0:0.365:0.0:0.635	.	.	.	.	X	696	.	ENSP00000381823:Y696X	Y	+	3	2	SEC24A	134060816	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.795000	0.38784	0.390000	0.25115	0.460000	0.39030	TAT		0.348	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			128	562	0	0	0	1	0	128	562				
DNAJC19	131118	broad.mit.edu	37	3	180706014	180706014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180706014T>C	ENST00000382564.2	-	2	177	c.7A>G	c.(7-9)Agt>Ggt	p.S3G	DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G|DNAJC19_ENST00000491873.1_Intron	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	3					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			ACCACTGTACTGGCCTGGTAA	0.448																																						ENST00000382564.2																			0				large_intestine(2)|lung(1)	3						c.(7-9)Agt>Ggt		DnaJ (Hsp40) homolog, subfamily C, member 19							76.0	73.0	74.0					3																	180706014		2203	4300	6503	SO:0001583	missense	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180706014T>C		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.7A>G	3.37:g.180706014T>C	ENSP00000372005:p.Ser3Gly					DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000491873.1_Intron|DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G	p.S3G	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		2	177	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		3					B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	c.7A>G	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478437	0.44044	.	.	ENSG00000205981	ENST00000382564	.	.	.	5.37	4.2	0.49525	.	0.162599	0.64402	N	0.000003	T	0.45013	0.1321	L	0.39326	1.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	9	0.32370	T	0.25	-1.0867	8.4651	0.32951	0.0:0.0942:0.0:0.9058	.	3	Q96DA6	TIM14_HUMAN	G	3	.	ENSP00000372005:S3G	S	-	1	0	DNAJC19	182188708	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.615000	0.46368	0.976000	0.38417	0.533000	0.62120	AGT		0.448	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		34	144	0	0	0	1	0	34	144				
NDST4	64579	broad.mit.edu	37	4	115856370	115856370	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115856370G>T	ENST00000264363.2	-	6	2206	c.1528C>A	c.(1528-1530)Cta>Ata	p.L510I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	510	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACTGGGTTTAGAAGGATTGTG	0.323																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1528-1530)Cta>Ata		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							177.0	180.0	179.0					4																	115856370		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115856370G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1528C>A	4.37:g.115856370G>T	ENSP00000264363:p.Leu510Ile						p.L510I	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	6	2206	-		Ovarian(17;0.156)	510			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1528C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356548	0.61293	.	.	ENSG00000138653	ENST00000264363	T	0.38560	1.13	5.12	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.75777	2.31	0.53688	D	0.999978	P	0.38420	0.63	B	0.40602	0.334	T	0.49688	-0.8913	10	0.46703	T	0.11	.	13.4805	0.61332	0.076:0.0:0.924:0.0	.	510	Q9H3R1	NDST4_HUMAN	I	510	ENSP00000264363:L510I	ENSP00000264363:L510I	L	-	1	2	NDST4	116075819	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.918000	0.87506	1.128000	0.42052	0.591000	0.81541	CTA		0.323	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		66	232	1	0	3.05417e-18	1	3.38677e-18	66	232				
DSCAML1	57453	broad.mit.edu	37	11	117308099	117308099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117308099G>A	ENST00000321322.6	-	26	4640	c.4639C>T	c.(4639-4641)Ctc>Ttc	p.L1547F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1487	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGTGAAGAGGTGTTGGTCT	0.592																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4639-4641)Ctc>Ttc		Down syndrome cell adhesion molecule like 1							166.0	147.0	153.0					11																	117308099		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117308099G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4639C>T	11.37:g.117308099G>A	ENSP00000315465:p.Leu1547Phe					DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	p.L1547F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4640	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1487			Fibronectin type-III 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4639C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742166	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.54479	0.57;0.57	4.45	4.45	0.53987	Fibronectin, type III (4);	.	.	.	.	T	0.68659	0.3025	M	0.75447	2.3	0.58432	D	0.999995	P	0.49185	0.92	P	0.57620	0.824	T	0.71244	-0.4650	9	0.44086	T	0.13	.	17.4654	0.87631	0.0:0.0:1.0:0.0	.	1487	Q8TD84	DSCL1_HUMAN	F	1277;1547;1254	ENSP00000434335:L1277F;ENSP00000315465:L1547F	ENSP00000315465:L1547F	L	-	1	0	DSCAML1	116813309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.211000	0.51137	2.195000	0.70347	0.655000	0.94253	CTC		0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		71	380	0	0	0	1	0	71	380				
ZNF277	11179	broad.mit.edu	37	7	111979911	111979911	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111979911T>G	ENST00000361822.3	+	10	1109	c.980T>G	c.(979-981)tTt>tGt	p.F327C	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	327					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACACGAATTTGATCTTCTC	0.313																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(979-981)tTt>tGt		zinc finger protein 277							146.0	140.0	143.0					7																	111979911		2201	4297	6498	SO:0001583	missense	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111979911T>G	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.980T>G	7.37:g.111979911T>G	ENSP00000354501:p.Phe327Cys					AC004112.4_ENST00000431064.1_RNA	p.F327C	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN			10	1109	+			327					Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	c.980T>G	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210912	0.79240	.	.	ENSG00000198839	ENST00000361822;ENST00000421864	T;T	0.64618	-0.11;-0.11	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85404	0.1133	10	0.87932	D	0	-21.357	16.3035	0.82836	0.0:0.0:0.0:1.0	.	327	Q9NRM2	ZN277_HUMAN	C	327;38	ENSP00000354501:F327C;ENSP00000415735:F38C	ENSP00000354501:F327C	F	+	2	0	ZNF277	111767147	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.798000	0.75155	2.299000	0.77371	0.528000	0.53228	TTT		0.313	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		55	296	0	0	0	1	0	55	296				
DGCR8	54487	broad.mit.edu	37	22	20073696	20073696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20073696C>T	ENST00000351989.3	+	2	639	c.210C>T	c.(208-210)taC>taT	p.Y70Y	DGCR8_ENST00000407755.1_Silent_p.Y70Y|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Silent_p.Y70Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	70	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCAACTTCTACGGAGCTTCTC	0.602																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(208-210)taC>taT		DGCR8 microprocessor complex subunit							71.0	74.0	73.0					22																	20073696		2203	4300	6503	SO:0001819	synonymous_variant	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20073696C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.210C>T	22.37:g.20073696C>T						DGCR8_ENST00000383024.2_Silent_p.Y70Y|DGCR8_ENST00000407755.1_Silent_p.Y70Y	p.Y70Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			2	639	+	Colorectal(54;0.0993)		70			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	c.210C>T	CCDS13773.1																																																																																				0.602	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			104	431	0	0	0	1	0	104	431				
EFCAB6	64800	broad.mit.edu	37	22	44131843	44131843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44131843C>T	ENST00000262726.7	-	7	791	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	180	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCAAAGGCTTTCATAACA	0.368																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(538-540)Gcc>Acc		EF-hand calcium binding domain 6							121.0	115.0	117.0					22																	44131843		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44131843C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.538G>A	22.37:g.44131843C>T	ENSP00000262726:p.Ala180Thr					EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T	p.A180T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			7	791	-		Ovarian(80;0.0247)|all_neural(38;0.025)	180			EF-hand 2.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.538G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024267	0.54683	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.14	5.14	0.70334	EF-hand-like domain (1);	0.189738	0.31859	N	0.006945	T	0.53190	0.1781	M	0.83118	2.625	0.29855	N	0.828138	D;D;D;P	0.65815	0.976;0.995;0.962;0.851	P;D;P;B	0.64144	0.606;0.922;0.681;0.307	T	0.54642	-0.8263	10	0.20519	T	0.43	-25.4603	6.6988	0.23213	0.2817:0.6351:0.0:0.0833	.	74;74;180;180	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	T	28;180;74;74	ENSP00000379533:A28T;ENSP00000262726:A180T;ENSP00000351219:A74T;ENSP00000348391:A74T	ENSP00000262726:A180T	A	-	1	0	EFCAB6	42463176	0.994000	0.37717	0.875000	0.34327	0.886000	0.51366	1.392000	0.34486	2.835000	0.97688	0.591000	0.81541	GCC		0.368	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		75	336	0	0	0	1	0	75	336				
TOP3A	7156	broad.mit.edu	37	17	18194223	18194223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194223G>A	ENST00000321105.5	-	12	1614	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	467					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGGCCATGGGCCACAAAGCG	0.522																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1399-1401)gCc>gTc		topoisomerase (DNA) III alpha							130.0	121.0	124.0					17																	18194223		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18194223G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1400C>T	17.37:g.18194223G>A	ENSP00000321636:p.Ala467Val					TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V|TOP3A_ENST00000540524.1_5'UTR	p.A467V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			12	1614	-			467					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1400C>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466920	0.63625	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.26957	1.7;1.7	5.72	5.72	0.89469	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.099623	0.64402	D	0.000001	T	0.52725	0.1752	M	0.77712	2.385	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.63283	0.913;0.859	T	0.51560	-0.8690	10	0.51188	T	0.08	-22.6968	19.8731	0.96858	0.0:0.0:1.0:0.0	.	372;467	B4DK80;Q13472	.;TOP3A_HUMAN	V	467;372	ENSP00000321636:A467V;ENSP00000442336:A372V	ENSP00000321636:A467V	A	-	2	0	TOP3A	18134948	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	7.829000	0.86735	2.699000	0.92147	0.563000	0.77884	GCC		0.522	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			38	255	0	0	0	1	0	38	255				
ZNF257	113835	broad.mit.edu	37	19	22270975	22270975	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22270975G>T	ENST00000594947.1	+	4	567	c.423G>T	c.(421-423)caG>caT	p.Q141H	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACTACCCAGAGCAAAATGT	0.313																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(421-423)caG>caT		zinc finger protein 257							68.0	73.0	71.0					19																	22270975		2178	4290	6468	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22270975G>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.423G>T	19.37:g.22270975G>T	ENSP00000470209:p.Gln141His					ZNF257_ENST00000600162.1_3'UTR	p.Q141H	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	567	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	141					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.423G>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	3.686	-0.064607	0.07273	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.926	-0.301	0.12800	.	.	.	.	.	T	0.27169	0.0666	L	0.39085	1.19	0.09310	N	1	B	0.21520	0.057	B	0.22601	0.04	T	0.24154	-1.0168	8	0.37606	T	0.19	.	2.7022	0.05152	0.4382:0.0:0.5618:0.0	.	141	Q9Y2Q1	ZN257_HUMAN	H	141	.	ENSP00000380312:Q141H	Q	+	3	2	ZNF257	22062815	0.012000	0.17670	0.045000	0.18777	0.427000	0.31564	-0.124000	0.10595	0.308000	0.22923	0.313000	0.20887	CAG		0.313	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			44	204	1	0	1.22674e-20	1	1.37621e-20	44	204				
INSL6	11172	broad.mit.edu	37	9	5164187	5164187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5164187G>A	ENST00000381641.3	-	2	433	c.368C>T	c.(367-369)tCa>tTa	p.S123L	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	123					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACCAAGGGGTGAATATCCCTT	0.328																																						ENST00000381641.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(367-369)tCa>tTa		insulin-like 6							91.0	91.0	91.0					9																	5164187		2203	4298	6501	SO:0001583	missense	11172					extracellular region	hormone activity	g.chr9:5164187G>A	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.368C>T	9.37:g.5164187G>A	ENSP00000371054:p.Ser123Leu					INSL6_ENST00000510407.1_5'UTR	p.S123L	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	2	433	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	123					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	c.368C>T	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547171	0.13312	.	.	ENSG00000120210	ENST00000381641	T	0.48522	0.81	4.2	-0.793	0.10922	Insulin-like (3);	2.496800	0.01306	N	0.010478	T	0.23094	0.0558	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	10	0.13470	T	0.59	0.3335	7.5577	0.27833	0.7562:0.0:0.2438:0.0	.	123	Q9Y581	INSL6_HUMAN	L	123	ENSP00000371054:S123L	ENSP00000371054:S123L	S	-	2	0	INSL6	5154187	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.126000	0.15769	-0.124000	0.11724	0.591000	0.81541	TCA		0.328	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		75	340	0	0	0	1	0	75	340				
HHEX	3087	broad.mit.edu	37	10	94452255	94452255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94452255G>A	ENST00000282728.5	+	2	2291	c.492G>A	c.(490-492)ccG>ccA	p.P164P	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	164					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATCTCTCTCCGCCCGAGAGGA	0.607																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(490-492)ccG>ccA		hematopoietically expressed homeobox							37.0	40.0	39.0					10																	94452255		2203	4300	6503	SO:0001819	synonymous_variant	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94452255G>A	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.492G>A	10.37:g.94452255G>A						HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	p.P164P	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			2	2291	+			164					B1AQ17|Q96CE9	Silent	SNP	ENST00000282728.5	37	c.492G>A	CCDS7423.1																																																																																				0.607	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			54	255	0	0	0	1	0	54	255				
PTPN6	5777	broad.mit.edu	37	12	7061307	7061307	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7061307A>G	ENST00000318974.9	+	3	537	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C|PTPN6_ENST00000456013.1_Missense_Mutation_p.Y98C	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	98	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CACCTCAAGTACCCGCTGAAC	0.627																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(292-294)tAc>tGc		protein tyrosine phosphatase, non-receptor type 6							96.0	110.0	105.0					12																	7061307		2189	4282	6471	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7061307A>G		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.293A>G	12.37:g.7061307A>G	ENSP00000326010:p.Tyr98Cys					PTPN6_ENST00000318974.9_Missense_Mutation_p.Y98C|PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C	p.Y98C	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			3	535	+			98			SH2 1.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.293A>G	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.381149	0.61845	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	4.37	4.37	0.52481	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	M	0.63843	1.955	0.58432	D	0.999999	P;B;P;B;P	0.43607	0.812;0.444;0.802;0.184;0.701	P;B;B;B;B	0.46659	0.523;0.44;0.44;0.184;0.343	D	0.95169	0.8288	10	0.46703	T	0.11	.	13.5971	0.61996	1.0:0.0:0.0:0.0	.	86;59;98;98;100	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	C	119;100;59;98;98;98;98;98;57	ENSP00000443393:Y119C;ENSP00000382376:Y100C;ENSP00000415979:Y59C;ENSP00000438740:Y98C;ENSP00000326010:Y98C;ENSP00000391592:Y98C;ENSP00000444337:Y98C;ENSP00000445646:Y98C;ENSP00000440114:Y57C	ENSP00000326010:Y98C	Y	+	2	0	PTPN6	6931568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.612000	0.50221	0.459000	0.35465	TAC		0.627	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		62	443	0	0	0	1	0	62	443				
OR51F1	256892	broad.mit.edu	37	11	4790217	4790217	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4790217T>C	ENST00000380383.1	-	1	951	c.952A>G	c.(952-954)Aca>Gca	p.T318A	OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTTCATTTTGTAAGCAGCAGA	0.423																																						ENST00000380383.1																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(952-954)Aca>Gca		olfactory receptor, family 51, subfamily F, member 1							87.0	83.0	84.0					11																	4790217		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790217T>C	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.952A>G	11.37:g.4790217T>C	ENSP00000369744:p.Thr318Ala					MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A|MMP26_ENST00000477339.1_Intron	p.T318A			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	951	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	311						Missense_Mutation	SNP	ENST00000380383.1	37	c.952A>G		.	.	.	.	.	.	.	.	.	.	T	0.003	-2.436733	0.00182	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00002	9.85;9.85	5.2	-7.56	0.01322	.	1.837620	0.02621	N	0.103194	T	0.00039	0.0001	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34825	-0.9813	10	0.07813	T	0.8	.	1.1005	0.01683	0.3628:0.2485:0.0937:0.295	.	318	A6NGY5	O51F1_HUMAN	A	311;318	ENSP00000345163:T311A;ENSP00000369744:T318A	ENSP00000345163:T311A	T	-	1	0	OR51F1	4746793	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.691000	0.05133	-1.941000	0.01042	-1.255000	0.01485	ACA		0.423	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		63	256	0	0	0	1	0	63	256				
C15orf26	161502	broad.mit.edu	37	15	81427610	81427610	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81427610G>T	ENST00000286732.4	+	2	152		c.e2-1			NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26											endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTTCTGTTTAGGAGCTCATGA	0.343																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.e2-1		chromosome 15 open reading frame 26							65.0	68.0	67.0					15																	81427610		1793	4067	5860	SO:0001630	splice_region_variant	161502							g.chr15:81427610G>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.70-1G>T	15.37:g.81427610G>T								NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN			2	152	+								Q8N906	Splice_Site	SNP	ENST00000286732.4	37		CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026856	0.35797	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf26	79214665	1.000000	0.71417	0.995000	0.50966	0.416000	0.31233	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	.		0.343	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	Intron	33	216	1	0	6.70999e-13	1	7.22283e-13	33	216				
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025324G>T	ENST00000205890.5	+	2	3548	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1070					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3208-3210)caG>caT		myosin XVA							85.0	91.0	89.0					17																	18025324		1998	4164	6162	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025324G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3210G>T	17.37:g.18025324G>T	ENSP00000205890:p.Gln1070His						p.Q1070H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3548	+	all_neural(463;0.228)		1070			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3210G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	9.487	1.099688	0.20552	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.08	1.67	0.24075	.	.	.	.	.	T	0.74253	0.3692	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.31751	0.135	T	0.63651	-0.6589	9	0.37606	T	0.19	.	4.9784	0.14153	0.1983:0.1751:0.6266:0.0	.	1070	Q9UKN7	MYO15_HUMAN	H	1070	ENSP00000205890:Q1070H	ENSP00000205890:Q1070H	Q	+	3	2	MYO15A	17966049	0.012000	0.17670	0.006000	0.13384	0.156000	0.22039	0.746000	0.26275	1.114000	0.41781	0.561000	0.74099	CAG		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		114	776	1	0	1.26781e-57	1	1.58805e-57	114	776				
SSPO	23145	broad.mit.edu	37	7	149509003	149509003	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149509003G>A	ENST00000378016.2	+	0	9549							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTAGGTGAGCCCACGTGGT	0.672																																						ENST00000378016.2																			0													SCO-spondin							28.0	33.0	31.0					7																	149509003		2101	4213	6314			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509003G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509003G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9549	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				32	209	0	0	0	1	0	32	209				
CLASRP	11129	broad.mit.edu	37	19	45573808	45573808	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45573808C>T	ENST00000221455.3	+	20	2069	c.1971C>T	c.(1969-1971)agC>agT	p.S657S	CLASRP_ENST00000391953.4_Silent_p.S595S|CLASRP_ENST00000544944.2_Silent_p.S638S	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	657	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGAATACAGCTCTTCTCGAA	0.522																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1912-1914)agC>agT		CLK4-associating serine/arginine rich protein							227.0	231.0	230.0					19																	45573808		2203	4300	6503	SO:0001819	synonymous_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45573808C>T	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1971C>T	19.37:g.45573808C>T						CLASRP_ENST00000221455.3_Silent_p.S657S|CLASRP_ENST00000391953.4_Silent_p.S595S	p.S638S			Q8N2M8	CLASR_HUMAN			18	2606	+			657			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Silent	SNP	ENST00000221455.3	37	c.1914C>T	CCDS12652.2																																																																																				0.522	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		21	1390	0	0	0	1	0	21	1390				
GDF2	2658	broad.mit.edu	37	10	48413908	48413908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48413908G>A	ENST00000249598.1	-	2	1119	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	320					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCCCGGCGCTCCTTTTCC	0.612																																						ENST00000249598.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(958-960)agC>agT		growth differentiation factor 2							50.0	52.0	51.0					10																	48413908		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413908G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.960C>T	10.37:g.48413908G>A							p.S320S	NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN			2	1119	-			320					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.960C>T	CCDS7219.1																																																																																				0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		78	370	0	0	0	1	0	78	370				
PCSK4	54760	broad.mit.edu	37	19	1487861	1487861	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1487861C>A	ENST00000300954.5	-	5	578		c.e5-1		PCSK4_ENST00000587784.1_Splice_Site|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGGTCCTGGGGGCAGG	0.692																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.e5-1		proprotein convertase subtilisin/kexin type 4							11.0	14.0	13.0					19																	1487861		2149	4260	6409	SO:0001630	splice_region_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487861C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.517-1G>T	19.37:g.1487861C>A						PCSK4_ENST00000587784.1_Splice_Site		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	578	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)							Splice_Site	SNP	ENST00000300954.5	37		CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797892	0.50208	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7328	0.51748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK4	1438861	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.471000	0.80985	1.501000	0.48654	0.491000	0.48974	.		0.692	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573	Intron	40	141	1	0	1.69901e-12	1	1.82497e-12	40	141				
C4A	720	broad.mit.edu	37	6	31963881	31963881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31963881G>A	ENST00000428956.2	+	26	3464	c.3380G>A	c.(3379-3381)aGc>aAc	p.S1127N	C4A_ENST00000498271.1_Missense_Mutation_p.S1127N	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1127					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTAGACAGGAGCATGCAGGTG	0.602																																						ENST00000428956.2																			0											c.(3379-3381)aGc>aAc		complement component 4A (Rodgers blood group)							81.0	81.0	81.0					6																	31963881		1565	3532	5097	SO:0001583	missense	720							g.chr6:31963881G>A	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3380G>A	6.37:g.31963881G>A	ENSP00000396688:p.Ser1127Asn					C4A_ENST00000498271.1_Missense_Mutation_p.S1127N	p.S1127N	NM_007293.2	NP_009224.2					26	3464	+								A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000428956.2	37	c.3380G>A	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.396858	0.01175	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37915	1.17;1.17	3.18	-6.36	0.01969	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	1.042290	0.07510	N	0.908737	T	0.07007	0.0178	L	0.35593	1.075	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.004	T	0.27157	-1.0082	10	0.24483	T	0.36	.	4.7977	0.13281	0.4814:0.2912:0.2274:0.0	.	1127;1127	A6H8M8;P0C0L4	.;CO4A_HUMAN	N	1127	ENSP00000396688:S1127N;ENSP00000420212:S1127N	ENSP00000396688:S1127N	S	+	2	0	C4A	32071860	0.000000	0.05858	0.006000	0.13384	0.062000	0.15995	-3.523000	0.00442	-1.500000	0.01819	0.413000	0.27773	AGC		0.602	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		6	260	0	0	0	1	0	6	260				
UNC13C	440279	broad.mit.edu	37	15	54306705	54306705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54306705G>A	ENST00000260323.11	+	1	1605	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	535					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACCTCTCTGGCACTCACAGA	0.363																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1603-1605)tgG>tgA		unc-13 homolog C (C. elegans)							58.0	58.0	58.0					15																	54306705		1854	4111	5965	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306705G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1605G>A	15.37:g.54306705G>A	ENSP00000260323:p.Trp535*					UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.W535*	p.W535*			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1605	+			535					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.1605G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	39	7.471675	0.98306	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4826	0.87677	0.0:0.0:1.0:0.0	.	.	.	.	X	535	.	ENSP00000260323:W535X	W	+	3	0	UNC13C	52093997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.608000	0.88229	0.655000	0.94253	TGG		0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		50	188	0	0	0	1	0	50	188				
TMEM63B	55362	broad.mit.edu	37	6	44116249	44116249	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44116249G>T	ENST00000259746.9	+	14	1304		c.e14-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CATCTTTCTAGCATCCTGAAG	0.622																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.e14-1		transmembrane protein 63B							105.0	96.0	99.0					6																	44116249		2203	4300	6503	SO:0001630	splice_region_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44116249G>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1122-1G>T	6.37:g.44116249G>T						TMEM63B_ENST00000323267.6_Splice_Site				Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		14	1304	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)							B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Splice_Site	SNP	ENST00000259746.9	37		CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153572	0.57259	.	.	ENSG00000137216	ENST00000259746;ENST00000323267;ENST00000371893	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1371	0.81494	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM63B	44224227	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.663000	0.83820	2.280000	0.76307	0.563000	0.77884	.		0.622	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	Intron	90	464	1	0	5.48297e-45	1	6.7172e-45	90	464				
SEC16B	89866	broad.mit.edu	37	1	177913771	177913771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177913771C>T	ENST00000308284.6	-	15	1895	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	602					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTGGATTGCCTCAGTTGTTG	0.473																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1804-1806)gaG>gaA		SEC16 homolog B (S. cerevisiae)							137.0	141.0	140.0					1																	177913771		1900	4118	6018	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177913771C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1806G>A	1.37:g.177913771C>T						RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	p.E602E	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			15	1895	-			602					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.1806G>A	CCDS44281.1																																																																																				0.473	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		165	584	0	0	0	1	0	165	584				
RYR1	6261	broad.mit.edu	37	19	39008036	39008036	+	Silent	SNP	C	C	T	rs199828145	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39008036C>T	ENST00000359596.3	+	66	9723	c.9723C>T	c.(9721-9723)ccC>ccT	p.P3241P	RYR1_ENST00000355481.4_Silent_p.P3241P|RYR1_ENST00000360985.3_Silent_p.P3241P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3241					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGATGTGTCCCGACATCCCGG	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		12272	0.0		0.0	False		,,,				2504	0.002					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9721-9723)ccC>ccT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						42.0	43.0	43.0					19																	39008036		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008036C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9723C>T	19.37:g.39008036C>T						RYR1_ENST00000360985.3_Silent_p.P3241P|RYR1_ENST00000359596.3_Silent_p.P3241P	p.P3241P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	9854	+	all_cancers(60;7.91e-06)		3241					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.9723C>T	CCDS33011.1																																																																																				0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			6	300	0	0	0	1	0	6	300				
CCNY	219771	broad.mit.edu	37	10	35841947	35841947	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35841947G>A	ENST00000374704.4	+	8	760	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CCNY_ENST00000374706.1_Splice_Site_p.V140M|CCNY_ENST00000339497.5_Splice_Site_p.V169M|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Splice_Site_p.V140M	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	194	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GTCTTCCCAGGTGTACCTTGA	0.438																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.e8-1		cyclin Y							103.0	105.0	105.0					10																	35841947		2203	4300	6503	SO:0001630	splice_region_variant	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35841947G>A	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.580-1G>A	10.37:g.35841947G>A						CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Splice_Site_p.V140_splice|CCNY_ENST00000339497.5_Splice_Site_p.V169_splice|CCNY_ENST00000374706.1_Splice_Site_p.V140_splice	p.V194_splice	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			8	760	+			194			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Splice_Site	SNP	ENST00000374704.4	37	c.579_splice	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242475	0.95272	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.052937	0.85682	D	0.000000	D	0.95937	0.8677	M	0.92784	3.345	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.72338	0.966;0.962;0.977	D	0.96513	0.9380	9	.	.	.	-0.383	19.3632	0.94451	0.0:0.0:1.0:0.0	.	61;169;194	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	M	140;194;194;169;140;61	ENSP00000363838:V140M;ENSP00000363836:V194M;ENSP00000344275:V169M;ENSP00000265375:V140M	.	V	+	1	0	CCNY	35881953	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GTG		0.438	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698	Missense_Mutation	81	337	0	0	0	1	0	81	337				
TMEM59L	25789	broad.mit.edu	37	19	18724721	18724721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724721G>A	ENST00000600490.1	+	3	396	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	71						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CTATGACAGAGCCGTTCTGAT	0.662																																						ENST00000600490.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(211-213)Gcc>Acc		transmembrane protein 59-like							43.0	50.0	47.0					19																	18724721		2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18724721G>A	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.211G>A	19.37:g.18724721G>A	ENSP00000470879:p.Ala71Thr					TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T	p.A71T			Q9UK28	TM59L_HUMAN			3	396	+			71						Missense_Mutation	SNP	ENST00000600490.1	37	c.211G>A	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377042	0.61735	.	.	ENSG00000105696	ENST00000262817	T	0.46451	0.87	4.14	4.14	0.48551	.	0.124651	0.56097	D	0.000022	T	0.48095	0.1481	L	0.54323	1.7	0.29756	N	0.835919	D	0.63880	0.993	P	0.55508	0.777	T	0.48387	-0.9040	10	0.48119	T	0.1	-21.1015	8.338	0.32225	0.1127:0.0:0.8873:0.0	.	71	Q9UK28	TM59L_HUMAN	T	71	ENSP00000262817:A71T	ENSP00000262817:A71T	A	+	1	0	TMEM59L	18585721	0.608000	0.26966	0.124000	0.21820	0.030000	0.12068	2.480000	0.45206	1.997000	0.58415	0.561000	0.74099	GCC		0.662	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			93	465	0	0	0	1	0	93	465				
DLEC1	9940	broad.mit.edu	37	3	38105386	38105386	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38105386T>A	ENST00000308059.6	+	6	1170	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E|DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTTTCACAGATTATGAAATTG	0.378																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1147-1149)gaT>gaA		deleted in lung and esophageal cancer 1							173.0	163.0	166.0					3																	38105386		1835	4090	5925	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38105386T>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1149T>A	3.37:g.38105386T>A	ENSP00000308597:p.Asp383Glu					DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E|DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E|DLEC1_ENST00000469151.1_3'UTR	p.D383E			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	6	1170	+			383						Missense_Mutation	SNP	ENST00000308059.6	37	c.1149T>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	14.23	2.471952	0.43942	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06608	3.29;3.28;3.51	4.67	3.52	0.40303	.	0.104304	0.64402	D	0.000006	T	0.07773	0.0195	L	0.53249	1.67	0.42793	D	0.993903	P;P;P;P	0.47604	0.811;0.898;0.735;0.898	B;B;B;B	0.43658	0.331;0.426;0.331;0.426	T	0.31779	-0.9931	10	0.33940	T	0.23	-13.2537	6.7698	0.23587	0.0:0.1057:0.0:0.8943	.	383;383;383;383	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	E	383	ENSP00000308597:D383E;ENSP00000315914:D383E;ENSP00000410427:D383E	ENSP00000308597:D383E	D	+	3	2	DLEC1	38080390	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.526000	0.22971	0.813000	0.34350	0.528000	0.53228	GAT		0.378	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		137	596	0	0	0	1	0	137	596				
TFEC	22797	broad.mit.edu	37	7	115582018	115582018	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115582018T>G	ENST00000265440.7	-	7	772	c.592A>C	c.(592-594)Aga>Cga	p.R198R	TFEC_ENST00000484212.1_Silent_p.R288R|TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000320239.7_Silent_p.R169R|TFEC_ENST00000457268.1_Silent_p.R131R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	198					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTCGGGCTCTCTGTTGTTCT	0.418																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(592-594)Aga>Cga		transcription factor EC							210.0	202.0	205.0					7																	115582018		2203	4300	6503	SO:0001819	synonymous_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115582018T>G	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.592A>C	7.37:g.115582018T>G						TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000320239.7_Silent_p.R169R|TFEC_ENST00000457268.1_Silent_p.R131R|TFEC_ENST00000484212.1_Silent_p.R288R	p.R198R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		7	772	-			198					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Silent	SNP	ENST00000265440.7	37	c.592A>C	CCDS5762.1																																																																																				0.418	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		147	606	0	0	0	1	0	147	606				
ST8SIA5	29906	broad.mit.edu	37	18	44336397	44336397	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44336397G>A	ENST00000315087.7	-	1	735	c.75C>T	c.(73-75)gcC>gcT	p.A25A	ST8SIA5_ENST00000538168.1_Silent_p.A25A|ST8SIA5_ENST00000536490.1_Silent_p.A25A|RP11-742D12.2_ENST00000602329.1_RNA|RP11-742D12.2_ENST00000602333.1_RNA	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	25					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAAGGCAAAGGCGCAGATGA	0.612																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(73-75)gcC>gcT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							110.0	103.0	105.0					18																	44336397		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44336397G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.75C>T	18.37:g.44336397G>A						ST8SIA5_ENST00000538168.1_Silent_p.A25A|ST8SIA5_ENST00000536490.1_Silent_p.A25A	p.A25A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			1	735	-			25					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.75C>T	CCDS11930.1																																																																																				0.612	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		64	349	0	0	0	1	0	64	349				
ETV2	2116	broad.mit.edu	37	19	36134268	36134268	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36134268G>T	ENST00000403402.1	+	4	634	c.328G>T	c.(328-330)Ggc>Tgc	p.G110C	ETV2_ENST00000379023.4_Intron|ETV2_ENST00000479824.1_Missense_Mutation_p.G17C|ETV2_ENST00000379026.2_Missense_Mutation_p.G138C|ETV2_ENST00000402764.2_Missense_Mutation_p.G110C			O00321	ETV2_HUMAN	ets variant 2	110					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGACCCTGGGCCCCGCCCC	0.741																																						ENST00000379026.2																			0				lung(2)	2						c.(412-414)Ggc>Tgc		ets variant 2							5.0	6.0	5.0					19																	36134268		2076	4184	6260	SO:0001583	missense	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36134268G>T	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.328G>T	19.37:g.36134268G>T	ENSP00000385369:p.Gly110Cys					ETV2_ENST00000479824.1_Missense_Mutation_p.G17C|ETV2_ENST00000403402.1_Missense_Mutation_p.G110C|ETV2_ENST00000402764.2_Missense_Mutation_p.G110C|ETV2_ENST00000379023.4_Intron	p.G138C			B9EIN1	B9EIN1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	851	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		110					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	c.412G>T	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	g	18.79	3.698179	0.68386	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379021;ENST00000403402	T;T;T	0.44083	0.93;0.93;0.93	3.87	2.84	0.33178	.	3.921250	0.01179	N	0.007058	T	0.54062	0.1835	L	0.29908	0.895	0.25390	N	0.988537	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.80764	0.829;0.994;0.829	T	0.41945	-0.9480	10	0.87932	D	0	.	7.0931	0.25295	0.1211:0.0:0.8789:0.0	.	109;138;110	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	C	138;110;110;110	ENSP00000368312:G138C;ENSP00000384524:G110C;ENSP00000385369:G110C	ENSP00000368307:G110C	G	+	1	0	ETV2	40826108	0.168000	0.22989	0.515000	0.27774	0.052000	0.14988	0.816000	0.27267	1.221000	0.43506	0.556000	0.70494	GGC		0.741	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		10	41	1	0	0.000673444	1	0.000681208	10	41				
WDR24	84219	broad.mit.edu	37	16	739280	739280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:739280G>A	ENST00000248142.6	-	3	546	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	WDR24_ENST00000293883.4_Missense_Mutation_p.R121C|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	183										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TTTACCGTGCGCTTGTGTTCT	0.597																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(361-363)Cgc>Tgc		WD repeat domain 24							132.0	100.0	111.0					16																	739280		2200	4300	6500	SO:0001583	missense	84219							g.chr16:739280G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.547C>T	16.37:g.739280G>A	ENSP00000248142:p.Arg183Cys					WDR24_ENST00000248142.6_Missense_Mutation_p.R183C	p.R121C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			1	1120	-		Hepatocellular(780;0.0218)	183					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.361C>T		.	.	.	.	.	.	.	.	.	.	g	33	5.223778	0.95139	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.60548	0.18;0.18	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76748	-0.2845	10	0.56958	D	0.05	-15.7029	17.5824	0.87972	0.0:0.0:1.0:0.0	.	121	Q96S15-2	.	C	183;121	ENSP00000248142:R183C;ENSP00000293883:R121C	ENSP00000248142:R183C	R	-	1	0	WDR24	679281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.132000	0.94455	2.391000	0.81399	0.561000	0.74099	CGC		0.597	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		43	216	0	0	0	1	0	43	216				
PRSS55	203074	broad.mit.edu	37	8	10383150	10383150	+	Missense_Mutation	SNP	G	G	A	rs200945105		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10383150G>A	ENST00000328655.3	+	1	95	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	19						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AACTCAGCTCGGTCCACGGAC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		17168	0.001		0.0	False		,,,				2504	0.0					ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(55-57)Ggt>Agt		protease, serine, 55							80.0	66.0	71.0					8																	10383150		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10383150G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.55G>A	8.37:g.10383150G>A	ENSP00000333003:p.Gly19Ser					PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S	p.G19S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			1	95	+			19					E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.55G>A	CCDS5976.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.148	0.025788	0.08054	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.87887	-2.31;-2.29	3.39	0.607	0.17564	.	.	.	.	.	T	0.71904	0.3395	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.23275	0.045	T	0.60939	-0.7163	9	0.51188	T	0.08	.	6.7064	0.23252	0.1156:0.1717:0.7127:0.0	.	19	Q6UWB4	PRS55_HUMAN	S	19	ENSP00000333003:G19S;ENSP00000430459:G19S	ENSP00000333003:G19S	G	+	1	0	PRSS55	10420560	0.566000	0.26618	0.024000	0.17045	0.000000	0.00434	0.525000	0.22956	0.103000	0.17682	-2.793000	0.00115	GGT		0.677	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		52	206	0	0	0	1	0	52	206				
SPERT	220082	broad.mit.edu	37	13	46276968	46276968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46276968C>T	ENST00000310521.1	+	2	214	c.134C>T	c.(133-135)cCa>cTa	p.P45L	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	45						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTAGAAATTCCAATCAGTGTG	0.428																																						ENST00000310521.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(133-135)cCa>cTa		spermatid associated							59.0	59.0	59.0					13																	46276968		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46276968C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.134C>T	13.37:g.46276968C>T	ENSP00000309189:p.Pro45Leu						p.P45L	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	214	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	45					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.134C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693050	0.68271	.	.	ENSG00000174015	ENST00000310521	T	0.58358	0.34	4.46	4.46	0.54185	.	0.180171	0.27654	N	0.018417	T	0.61426	0.2346	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59783	-0.7389	10	0.48119	T	0.1	.	12.9338	0.58303	0.0:1.0:0.0:0.0	.	45	Q8NA61	SPERT_HUMAN	L	45	ENSP00000309189:P45L	ENSP00000309189:P45L	P	+	2	0	SPERT	45174969	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.018000	0.49625	2.753000	0.94483	0.655000	0.94253	CCA		0.428	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		36	188	0	0	0	1	0	36	188				
DPY19L2P2	349152	broad.mit.edu	37	7	102912196	102912196	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102912196A>C	ENST00000312132.4	-	0	2383							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TAAATATGGAAGCGTTTTACT	0.338																																						ENST00000312132.4																			0																																																			0							g.chr7:102912196A>C	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912196A>C														0	2383	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.338	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		60	211	0	0	0	1	0	60	211				
HDAC9	9734	broad.mit.edu	37	7	18631230	18631230	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18631230T>C	ENST00000432645.2	+	4	498	c.498T>C	c.(496-498)aaT>aaC	p.N166N	HDAC9_ENST00000401921.1_Silent_p.N169N|HDAC9_ENST00000405010.3_Silent_p.N166N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000417496.2_Silent_p.N208N|HDAC9_ENST00000406072.1_Silent_p.N197N|HDAC9_ENST00000406451.4_Silent_p.N166N|HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000441542.2_Silent_p.N169N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	166					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGGAAAAAATCATTCCGTGA	0.448																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(496-498)aaT>aaC		histone deacetylase 9	Valproic Acid(DB00313)						84.0	85.0	85.0					7																	18631230		1954	4153	6107	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18631230T>C	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.498T>C	7.37:g.18631230T>C						HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000417496.2_Silent_p.N208N|HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000406072.1_Silent_p.N197N|HDAC9_ENST00000441542.2_Silent_p.N169N|HDAC9_ENST00000432645.2_Silent_p.N166N|HDAC9_ENST00000401921.1_Silent_p.N169N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000405010.3_Silent_p.N166N	p.N166N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			5	648	+	all_lung(11;0.187)		166					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.498T>C	CCDS47555.1																																																																																				0.448	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			13	165	0	0	0	1	0	13	165				
GCC1	79571	broad.mit.edu	37	7	127224652	127224652	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224652C>T	ENST00000321407.2	-	1	1009	c.585G>A	c.(583-585)caG>caA	p.Q195Q	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	195					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTCTAAGTCCTGTTTCATCT	0.527											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(583-585)caG>caA		GRIP and coiled-coil domain containing 1							97.0	106.0	103.0					7																	127224652		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224652C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.585G>A	7.37:g.127224652C>T			OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.Q195Q	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	1009	-			195					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.585G>A	CCDS5796.1																																																																																				0.527	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		120	550	0	0	0	1	0	120	550				
SGSM2	9905	broad.mit.edu	37	17	2281186	2281186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2281186G>T	ENST00000426855.2	+	21	2878	c.2703G>T	c.(2701-2703)caG>caT	p.Q901H	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.Q946H|SGSM2_ENST00000574563.1_Missense_Mutation_p.Q901H	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	901	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGATGCATCAGAATGGAGACT	0.537																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2836-2838)caG>caT		small G protein signaling modulator 2							218.0	183.0	195.0					17																	2281186		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2281186G>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2703G>T	17.37:g.2281186G>T	ENSP00000415107:p.Gln901His					SGSM2_ENST00000574563.1_Missense_Mutation_p.Q901H|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Missense_Mutation_p.Q901H	p.Q946H	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	22	3015	+			901					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.2838G>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.841965	0.51057	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.23147	1.92;1.92	6.04	3.73	0.42828	Rab-GAP/TBC domain (5);	0.216848	0.49305	D	0.000150	T	0.46833	0.1413	M	0.75447	2.3	0.47862	D	0.999531	D;D;D;D	0.69078	0.997;0.984;0.984;0.98	D;P;P;P	0.71414	0.973;0.876;0.876;0.844	T	0.48927	-0.8991	10	0.72032	D	0.01	-5.6589	9.9037	0.41364	0.2421:0.0:0.7579:0.0	.	901;901;901;946	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	H	946;901	ENSP00000268989:Q946H;ENSP00000415107:Q901H	ENSP00000268989:Q946H	Q	+	3	2	SGSM2	2227936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.766000	0.47629	1.542000	0.49330	0.651000	0.88453	CAG		0.537	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		69	385	1	0	2.25582e-47	1	2.77644e-47	69	385				
NPAS3	64067	broad.mit.edu	37	14	34029338	34029338	+	Silent	SNP	C	C	T	rs144736542		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34029338C>T	ENST00000356141.4	+	5	480	c.480C>T	c.(478-480)ggC>ggT	p.G160G	NPAS3_ENST00000551492.1_Silent_p.G165G|NPAS3_ENST00000346562.2_Silent_p.G128G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000341321.4_Silent_p.G160G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	160	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCTGGATGGCTTTGTATTTG	0.318																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(382-384)ggC>ggT		neuronal PAS domain protein 3							78.0	76.0	77.0					14																	34029338		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34029338C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.480C>T	14.37:g.34029338C>T						NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000356141.4_Silent_p.G160G|NPAS3_ENST00000551492.1_Silent_p.G165G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000341321.4_Silent_p.G160G	p.G128G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	4	458	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		160					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.384C>T	CCDS53891.1																																																																																				0.318	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			70	279	0	0	0	1	0	70	279				
DTX1	1840	broad.mit.edu	37	12	113496220	113496220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496220G>A	ENST00000257600.3	+	1	726	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	75	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTACATCATCGACCTGCAGTC	0.637																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(223-225)Gac>Aac		deltex homolog 1 (Drosophila)							121.0	113.0	115.0					12																	113496220		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496220G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.223G>A	12.37:g.113496220G>A	ENSP00000257600:p.Asp75Asn						p.D75N	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	726	+			75			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.223G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301233	0.95601	.	.	ENSG00000135144	ENST00000257600	T	0.56941	0.43	4.05	4.05	0.47172	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.69823	2.125	0.51012	D	0.999909	D	0.76494	0.999	D	0.83275	0.996	T	0.70241	-0.4926	10	0.36615	T	0.2	-5.2327	15.2014	0.73139	0.0:0.0:1.0:0.0	.	75	Q86Y01	DTX1_HUMAN	N	75	ENSP00000257600:D75N	ENSP00000257600:D75N	D	+	1	0	DTX1	111980603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.104000	0.64026	0.555000	0.69702	GAC		0.637	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			117	566	0	0	0	1	0	117	566				
SLC12A6	9990	broad.mit.edu	37	15	34531296	34531296	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34531296C>A	ENST00000354181.3	-	20	2994	c.2502G>T	c.(2500-2502)aaG>aaT	p.K834N	SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	834					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTCTCTCAGCTTGGCGGCCA	0.557																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2500-2502)aaG>aaT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						181.0	169.0	173.0					15																	34531296		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34531296C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2502G>T	15.37:g.34531296C>A	ENSP00000346112:p.Lys834Asn					SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N	p.K834N			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	20	2994	-		all_lung(180;2.78e-08)	834					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2502G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	2.746	-0.261117	0.05791	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.97	-1.61	0.08399	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	N	0.01729	-0.75	0.48395	D	0.999641	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.12156	0.001;0.007;0.003;0.002	T	0.66324	-0.5952	10	0.02654	T	1	.	10.0645	0.42295	0.0:0.41:0.0:0.59	.	819;834;783;646	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	783;819;825;775;775;646	ENSP00000290209:K783N;ENSP00000380819:K819N;ENSP00000380814:K775N;ENSP00000387725:K775N;ENSP00000390199:K646N	ENSP00000290209:K783N	K	-	3	2	SLC12A6	32318588	0.337000	0.24766	0.989000	0.46669	0.988000	0.76386	-0.131000	0.10482	-0.133000	0.11537	-0.252000	0.11476	AAG		0.557	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		198	986	1	0	5.13203e-58	1	6.43216e-58	198	986				
RHOBTB1	9886	broad.mit.edu	37	10	62648459	62648459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62648459G>A	ENST00000337910.5	-	6	1304	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	323	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCAATATCCGCCCCTGGAAA	0.502																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(967-969)Cgg>Tgg		Rho-related BTB domain containing 1							54.0	60.0	58.0					10																	62648459		2203	4299	6502	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648459G>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.967C>T	10.37:g.62648459G>A	ENSP00000338671:p.Arg323Trp					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	1304	-	Prostate(12;0.0112)		323			BTB 1.			Missense_Mutation	SNP	ENST00000337910.5	37	c.967C>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	4.703	0.130805	0.08981	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.17528	2.27;2.27	5.91	2.84	0.33178	BTB/POZ-like (2);BTB/POZ fold (1);	0.903634	0.09537	N	0.788737	T	0.20251	0.0487	M	0.73962	2.25	0.09310	N	0.999995	B	0.16802	0.019	B	0.12837	0.008	T	0.29212	-1.0019	10	0.59425	D	0.04	.	4.6453	0.12568	0.1802:0.0:0.5467:0.2731	.	323	O94844	RHBT1_HUMAN	W	323	ENSP00000350595:R323W;ENSP00000338671:R323W	ENSP00000338671:R323W	R	-	1	2	RHOBTB1	62318465	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.103000	0.15292	0.859000	0.35456	-0.384000	0.06662	CGG		0.502	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			43	492	0	0	0	1	0	43	492				
ADAMTS17	170691	broad.mit.edu	37	15	100821525	100821525	+	Missense_Mutation	SNP	G	G	A	rs545485140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100821525G>A	ENST00000268070.4	-	4	803	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	233	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTCTCCACCGTGTGCTCGCT	0.627																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(697-699)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							45.0	44.0	44.0					15																	100821525		2203	4299	6502	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100821525G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.698C>T	15.37:g.100821525G>A	ENSP00000268070:p.Thr233Met						p.T233M	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	4	803	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		233			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.698C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032945	0.75504	.	.	ENSG00000140470	ENST00000268070	D	0.87491	-2.26	4.89	4.89	0.63831	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.062019	0.64402	D	0.000009	D	0.90796	0.7110	L	0.46157	1.445	0.58432	D	0.999992	D	0.89917	1.0	D	0.68621	0.959	D	0.89864	0.4018	10	0.35671	T	0.21	.	18.0645	0.89387	0.0:0.0:1.0:0.0	.	233	Q8TE56	ATS17_HUMAN	M	233	ENSP00000268070:T233M	ENSP00000268070:T233M	T	-	2	0	ADAMTS17	98639048	1.000000	0.71417	0.298000	0.25002	0.984000	0.73092	5.800000	0.69108	2.259000	0.74868	0.462000	0.41574	ACG		0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		91	286	0	0	0	1	0	91	286				
SPATA31D1	389763	broad.mit.edu	37	9	84605879	84605879	+	Missense_Mutation	SNP	C	C	T	rs536036092	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84605879C>T	ENST00000344803.2	+	4	541	c.494C>T	c.(493-495)gCg>gTg	p.A165V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	165					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCGGCTTCTGCGACTGAGTCA	0.562																																						ENST00000344803.2																			0											c.(493-495)gCg>gTg		SPATA31 subfamily D, member 1							120.0	119.0	120.0					9																	84605879		2007	4168	6175	SO:0001583	missense	389763							g.chr9:84605879C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.494C>T	9.37:g.84605879C>T	ENSP00000341988:p.Ala165Val						p.A165V	NM_001001670.2	NP_001001670.1					4	541	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.494C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.663843	0.00772	.	.	ENSG00000214929	ENST00000344803	T	0.03982	3.74	2.8	-1.13	0.09775	.	2.086360	0.02128	N	0.056144	T	0.01800	0.0057	N	0.02539	-0.55	0.09310	N	1	B	0.18968	0.032	B	0.06405	0.002	T	0.37079	-0.9721	10	0.06757	T	0.87	-1.3739	2.9947	0.05994	0.0:0.285:0.235:0.48	.	165	Q6ZQQ2	F75D1_HUMAN	V	165	ENSP00000341988:A165V	ENSP00000341988:A165V	A	+	2	0	FAM75D1	83795699	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.925000	0.03992	-0.203000	0.10251	-1.409000	0.01127	GCG		0.562	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		11	395	0	0	0	1	0	11	395				
SCN10A	6336	broad.mit.edu	37	3	38770385	38770385	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38770385A>G	ENST00000449082.2	-	15	2287	c.2288T>C	c.(2287-2289)gTa>gCa	p.V763A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	763					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAGCTTGAATACGCGCAGCTG	0.493																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2287-2289)gTa>gCa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						89.0	90.0	90.0					3																	38770385		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770385A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2288T>C	3.37:g.38770385A>G	ENSP00000390600:p.Val763Ala						p.V763A	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2287	-			763					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2288T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234726	0.79800	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	4.83	4.83	0.62350	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.85630	2.765	0.54753	D	0.999984	P	0.52170	0.951	P	0.48770	0.589	D	0.98897	1.0775	10	0.87932	D	0	.	14.5588	0.68120	1.0:0.0:0.0:0.0	.	763	Q9Y5Y9	SCNAA_HUMAN	A	763	ENSP00000390600:V763A	ENSP00000390600:V763A	V	-	2	0	SCN10A	38745389	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.083000	0.94067	2.028000	0.59812	0.533000	0.62120	GTA		0.493	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		64	277	0	0	0	1	0	64	277				
LINGO4	339398	broad.mit.edu	37	1	151775046	151775046	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775046G>T	ENST00000368820.3	-	2	1072	c.135C>A	c.(133-135)ctC>ctA	p.L45L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	45	LRRNT.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGGCCACAGAGCACAGCCT	0.662																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(133-135)ctC>ctA		leucine rich repeat and Ig domain containing 4							30.0	21.0	24.0					1																	151775046		2199	4298	6497	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151775046G>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.135C>A	1.37:g.151775046G>T							p.L45L	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1072	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		45			LRRNT.			Silent	SNP	ENST00000368820.3	37	c.135C>A	CCDS30855.1																																																																																				0.662	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		7	72	1	0	8.12818e-05	1	8.2724e-05	7	72				
ZNF709	163051	broad.mit.edu	37	19	12576512	12576512	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12576512T>G	ENST00000397732.3	-	4	395	c.224A>C	c.(223-225)gAa>gCa	p.E75A	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTGACTACCTTCTTTCCTTTC	0.328																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(223-225)gAa>gCa		zinc finger protein 709							88.0	72.0	77.0					19																	12576512		1838	4099	5937	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12576512T>G	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.224A>C	19.37:g.12576512T>G	ENSP00000380840:p.Glu75Ala					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A	p.E75A	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	395	-			75			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.224A>C	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.178007	0.57692	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.05855	3.38;5.1;3.38	2.81	2.81	0.32909	Krueppel-associated box (1);	1.016590	0.07923	N	0.976251	T	0.10423	0.0255	L	0.57536	1.79	0.24101	N	0.99588	P	0.52316	0.952	B	0.43950	0.437	T	0.28713	-1.0035	10	0.62326	D	0.03	.	9.3748	0.38277	0.0:0.0:0.0:1.0	.	75	Q8N972	ZN709_HUMAN	A	75;104;75	ENSP00000380840:E75A;ENSP00000398085:E104A;ENSP00000404127:E75A	ENSP00000404127:E75A	E	-	2	0	ZNF709;CTD-2192J16.17	12437512	0.007000	0.16637	0.633000	0.29310	0.263000	0.26337	1.824000	0.39072	1.542000	0.49330	0.260000	0.18958	GAA		0.328	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		42	145	0	0	0	1	0	42	145				
GGTLC2	91227	broad.mit.edu	37	22	22989491	22989491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22989491G>A	ENST00000480559.1	+	3	343	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	GGTLC2_ENST00000448514.1_Missense_Mutation_p.V115M|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	115					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GACGATCATGGTGGGCCAGGA	0.647																																						ENST00000448514.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(343-345)Gtg>Atg		gamma-glutamyltransferase light chain 2							59.0	68.0	65.0					22																	22989491		2203	4298	6501	SO:0001583	missense	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22989491G>A	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.343G>A	22.37:g.22989491G>A	ENSP00000419751:p.Val115Met					GGTLC2_ENST00000480559.1_Missense_Mutation_p.V115M	p.V115M			Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	343	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	115					A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	ENST00000480559.1	37	c.343G>A	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	g	9.519	1.107886	0.20714	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.06849	3.25;3.25	.	.	.	.	0.211609	0.40818	N	0.001017	T	0.09335	0.0230	L	0.51853	1.615	0.26742	N	0.970369	P;P	0.41848	0.763;0.763	P;P	0.46208	0.507;0.507	T	0.12372	-1.0550	9	0.45353	T	0.12	-36.1029	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	.	115;115	Q14390;B7WND7	GGTL2_HUMAN;.	M	115	ENSP00000419751:V115M;ENSP00000415676:V115M	ENSP00000415676:V115M	V	+	1	0	GGTLC2	21319491	0.908000	0.30866	0.000000	0.03702	0.000000	0.00434	0.392000	0.20801	-0.000000	0.14550	0.000000	0.15137	GTG		0.647	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		55	651	0	0	0	1	0	55	651				
SRP68	6730	broad.mit.edu	37	17	74056448	74056448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74056448G>A	ENST00000307877.2	-	7	939	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	SRP68_ENST00000539137.1_Missense_Mutation_p.L222F|SRP68_ENST00000355113.5_Missense_Mutation_p.L159F	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	260					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ATCTGCATGAGTTCATTGATG	0.418																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(778-780)Ctc>Ttc		signal recognition particle 68kDa							83.0	83.0	83.0					17																	74056448		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74056448G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.778C>T	17.37:g.74056448G>A	ENSP00000312066:p.Leu260Phe					SRP68_ENST00000355113.5_Missense_Mutation_p.L159F|SRP68_ENST00000539137.1_Missense_Mutation_p.L222F	p.L260F	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			7	939	-			260					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.778C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710345	0.68730	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.23	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.982	T	0.46884	-0.9159	10	0.42905	T	0.14	-17.7999	9.3472	0.38115	0.2081:0.0:0.7919:0.0	.	222;260	G3V1U4;Q9UHB9	.;SRP68_HUMAN	F	222;260;260;159	ENSP00000446136:L222F;ENSP00000312066:L260F;ENSP00000347233:L159F	ENSP00000312066:L260F	L	-	1	0	SRP68	71568043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.475000	0.45162	2.601000	0.87937	0.467000	0.42956	CTC		0.418	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		33	192	0	0	0	1	0	33	192				
CDYL2	124359	broad.mit.edu	37	16	80718665	80718665	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718665T>C	ENST00000570137.2	-	2	541	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	129						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTGGCCCTGTCACCTCCTGA	0.542																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(385-387)gAc>gGc		chromodomain protein, Y-like 2							81.0	84.0	83.0					16																	80718665		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718665T>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.386A>G	16.37:g.80718665T>C	ENSP00000476295:p.Asp129Gly					CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G|CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G	p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	541	-			129					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.386A>G	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345323	0.24426	.	.	ENSG00000166446	ENST00000299564	T	0.56776	0.44	5.14	5.14	0.70334	.	0.432209	0.23830	N	0.044141	T	0.46405	0.1391	N	0.14661	0.345	0.46542	D	0.999092	D	0.58620	0.983	P	0.55222	0.771	T	0.30679	-0.9970	10	0.12430	T	0.62	.	14.3011	0.66352	0.0:0.0:0.0:1.0	.	129	Q8N8U2	CDYL2_HUMAN	G	129	ENSP00000299564:D129G	ENSP00000299564:D129G	D	-	2	0	CDYL2	79276166	1.000000	0.71417	0.987000	0.45799	0.061000	0.15899	4.807000	0.62576	2.154000	0.67381	0.482000	0.46254	GAC		0.542	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		77	337	0	0	0	1	0	77	337				
PLD5	200150	broad.mit.edu	37	1	242253373	242253373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242253373G>T	ENST00000536534.2	-	10	1635	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	PLD5_ENST00000442594.2_Missense_Mutation_p.A373D|PLD5_ENST00000427495.1_Missense_Mutation_p.A403D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	465						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GCCCGTGCCAGCATTCTGAGT	0.408																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1117-1119)gCt>gAt		phospholipase D family, member 5							131.0	125.0	127.0					1																	242253373		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253373G>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1394C>A	1.37:g.242253373G>T	ENSP00000440896:p.Ala465Asp					PLD5_ENST00000427495.1_Missense_Mutation_p.A403D|PLD5_ENST00000536534.1_Missense_Mutation_p.A465D	p.A373D	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		11	1627	-	Melanoma(84;0.242)		465					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1118C>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481388	0.44147	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.976;0.982	T	0.61950	-0.6957	10	0.87932	D	0	-19.3676	17.7645	0.88473	0.0:0.0:1.0:0.0	.	373;465;403	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	D	403;373;465	ENSP00000401285:A403D;ENSP00000414188:A373D;ENSP00000440896:A465D	ENSP00000401285:A403D	A	-	2	0	PLD5	240319996	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	8.145000	0.89625	2.723000	0.93209	0.655000	0.94253	GCT		0.408	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		150	553	1	0	3.62976e-74	1	4.6241e-74	150	553				
NT5E	4907	broad.mit.edu	37	6	86197066	86197066	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86197066A>T	ENST00000257770.3	+	5	1012	c.963A>T	c.(961-963)aaA>aaT	p.K321N	NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	321					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CAAGCATAAAAGCAGACATTA	0.363																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(961-963)aaA>aaT		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						88.0	91.0	90.0					6																	86197066		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86197066A>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.963A>T	6.37:g.86197066A>T	ENSP00000257770:p.Lys321Asn					NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	p.K321N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	5	1012	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	321					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.963A>T	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.08|16.08	3.022934|3.022934	0.54683|0.54683	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334;ENST00000437581|ENST00000369647;ENST00000257770;ENST00000369651	T;T|T;T	0.57752|0.56776	0.45;0.38|0.44;0.45	5.38|5.38	4.22|4.22	0.49857|0.49857	.|.	0.169287|0.169287	0.52532|0.52532	D|D	0.000063|0.000063	T|T	0.37293|0.37293	0.0998|0.0998	M|M	0.64997|0.64997	1.995|1.995	0.40974|0.40974	D|D	0.984722|0.984722	.|P;P	.|0.42735	.|0.788;0.67	.|P;B	.|0.45474	.|0.482;0.381	T|T	0.19877|0.19877	-1.0292|-1.0292	8|10	0.46703|0.25106	T|T	0.11|0.35	-25.9351|-25.9351	9.7274|9.7274	0.40339|0.40339	0.8553:0.0:0.1447:0.0|0.8553:0.0:0.1447:0.0	.|.	.|321;321	.|B3KQI8;P21589	.|.;5NTD_HUMAN	M|N	86;17|97;321;321	ENSP00000414674:K86M;ENSP00000387630:K17M|ENSP00000257770:K321N;ENSP00000358665:K321N	ENSP00000414674:K86M|ENSP00000257770:K321N	K|K	+|+	2|3	0|2	NT5E|NT5E	86253785|86253785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	3.070000|3.070000	0.50033|0.50033	0.894000|0.894000	0.36317|0.36317	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.363	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			71	308	0	0	0	1	0	71	308				
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373																																						ENST00000478176.1																			1	Substitution - Missense(1)	p.G41R(1)	kidney(1)																	42.0	30.0	34.0					20																	26084295		692	1590	2282			0							g.chr20:26084295C>T	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084295C>T								NR_003678.1						0	162	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.373	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			8	238	0	0	0	1	0	8	238				
ZNF480	147657	broad.mit.edu	37	19	52825080	52825080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825080G>T	ENST00000595962.1	+	5	643	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCTCCCACAAGAACAGAAAGT	0.363																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(577-579)Gaa>Taa		zinc finger protein 480							84.0	86.0	85.0					19																	52825080		2203	4300	6503	SO:0001587	stop_gained	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825080G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.577G>T	19.37:g.52825080G>T	ENSP00000471754:p.Glu193*					ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*	p.E193*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	643	+			193					Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	37	c.577G>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649274	0.29336	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	1.99	-0.868	0.10652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.0554	0.09814	0.0:0.2636:0.468:0.2684	.	.	.	.	X	193;150;116	.	ENSP00000334164:E150X	E	+	1	0	ZNF480	57516892	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.292000	0.02772	-0.275000	0.09219	0.467000	0.42956	GAA		0.363	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		38	394	1	0	3.30226e-22	1	3.73289e-22	38	394				
GNPDA1	10007	broad.mit.edu	37	5	141384657	141384657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384657G>A	ENST00000508177.1	-	4	1192	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	145					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTTGAAGGCAATGTGTCC	0.562																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(433-435)gCc>gTc		glucosamine-6-phosphate deaminase 1							55.0	48.0	50.0					5																	141384657		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384657G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.434C>T	5.37:g.141384657G>A	ENSP00000423674:p.Ala145Val					GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A145V	p.A145V			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1192	-		all_hematologic(541;0.118)	145					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.434C>T	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492421	0.96339	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194	T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.84	4.97	0.65823	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	H	0.97659	4.05	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.69307	0.831;0.963	D	0.89652	0.3870	10	0.87932	D	0	-15.799	14.9374	0.70967	0.0688:0.0:0.9312:0.0	.	111;145	E7EVU7;P46926	.;GNPI1_HUMAN	V	145;145;111;145;145;145;145;166;145	ENSP00000423494:A145V;ENSP00000311876:A145V;ENSP00000387718:A111V;ENSP00000424275:A145V;ENSP00000423674:A145V;ENSP00000423485:A145V;ENSP00000424625:A145V;ENSP00000421524:A166V;ENSP00000424537:A145V	ENSP00000311876:A145V	A	-	2	0	GNPDA1	141364841	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.476000	0.97823	1.477000	0.48234	0.591000	0.81541	GCC		0.562	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		28	91	0	0	0	1	0	28	91				
CDHR2	54825	broad.mit.edu	37	5	176016537	176016537	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176016537C>T	ENST00000510636.1	+	24	3400	c.3126C>T	c.(3124-3126)acC>acT	p.T1042T	CDHR2_ENST00000506348.1_Silent_p.T1042T|CDHR2_ENST00000261944.5_Silent_p.T1042T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1042	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCTCTTCACCGTGGACCAGA	0.652																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3124-3126)acC>acT		cadherin-related family member 2							52.0	54.0	53.0					5																	176016537		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016537C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3126C>T	5.37:g.176016537C>T						CDHR2_ENST00000261944.5_Silent_p.T1042T|CDHR2_ENST00000506348.1_Silent_p.T1042T	p.T1042T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			24	3400	+			1042			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.3126C>T	CCDS34297.1																																																																																				0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		54	288	0	0	0	1	0	54	288				
GP6	51206	broad.mit.edu	37	19	55525665	55525665	+	3'UTR	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55525665A>G	ENST00000417454.1	-	0	1671				CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.Y550H|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ttttgttggtagagatgaggt	0.453																																						ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1648-1650)Tac>Cac		glycoprotein VI (platelet)							56.0	53.0	54.0					19																	55525665		1917	4119	6036	SO:0001624	3_prime_UTR_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55525665A>G	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*624T>C	19.37:g.55525665A>G						GP6_ENST00000417454.1_3'UTR|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	p.Y550H	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	8	1675	-			0					Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.1648T>C	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295340	0.23564	.	.	ENSG00000088053	ENST00000310373	T	0.00564	6.57	0.235	0.235	0.15431	.	.	.	.	.	T	0.00754	0.0025	.	.	.	0.09310	N	1	P	0.47106	0.89	P	0.49332	0.607	T	0.53027	-0.8496	7	0.87932	D	0	.	.	.	.	.	550	Q9HCN6-3	.	H	550	ENSP00000308782:Y550H	ENSP00000308782:Y550H	Y	-	1	0	GP6	60217477	0.078000	0.21339	0.044000	0.18714	0.044000	0.14063	0.303000	0.19210	0.263000	0.21812	0.260000	0.18958	TAC		0.453	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			45	235	0	0	0	1	0	45	235				
PCDHA9	9752	broad.mit.edu	37	5	140229908	140229908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229908G>A	ENST00000532602.1	+	1	2861	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E610K|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	610	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTCATACGAGCTGCAGCC	0.672																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1828-1830)Gag>Aag									61.0	67.0	65.0					5																	140229908		2196	4269	6465	SO:0001583	missense	0							g.chr5:140229908G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1828G>A	5.37:g.140229908G>A	ENSP00000436042:p.Glu610Lys					PCDHA9_ENST00000532602.1_Missense_Mutation_p.E610K|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.E610K	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2552	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1828G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599753	0.46318	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.72;0.72	3.51	3.51	0.40186	Cadherin (4);Cadherin-like (1);	0.000000	0.31760	U	0.007116	T	0.61739	0.2371	L	0.60067	1.865	0.20074	N	0.999932	P;D	0.89917	0.945;1.0	P;D	0.80764	0.545;0.994	T	0.52403	-0.8580	10	0.87932	D	0	.	11.4541	0.50171	0.0:0.1816:0.8184:0.0	.	610;610	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	K	610	ENSP00000436042:E610K;ENSP00000367362:E610K	ENSP00000367362:E610K	E	+	1	0	PCDHA9	140210092	0.000000	0.05858	0.968000	0.41197	0.109000	0.19521	0.053000	0.14184	1.934000	0.56057	0.313000	0.20887	GAG		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		126	475	0	0	0	1	0	126	475				
ARHGAP24	83478	broad.mit.edu	37	4	86491742	86491742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86491742G>A	ENST00000395184.1	+	2	514	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	16					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGGCCAAGGGCGGCAGAATG	0.483																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(46-48)ggG>ggA		Rho GTPase activating protein 24							88.0	75.0	79.0					4																	86491742		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86491742G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.48G>A	4.37:g.86491742G>A						ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	p.G16G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	2	514	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	16					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.48G>A	CCDS34025.1																																																																																				0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		48	204	0	0	0	1	0	48	204				
CHD3	1107	broad.mit.edu	37	17	7811277	7811277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7811277C>T	ENST00000330494.7	+	34	5242	c.5092C>T	c.(5092-5094)Cga>Tga	p.R1698*	CHD3_ENST00000380358.4_Nonsense_Mutation_p.R1757*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1698	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATGGGCGACGAGAGGAAAA	0.557																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5269-5271)Cga>Tga		chromodomain helicase DNA binding protein 3							114.0	107.0	110.0					17																	7811277		2203	4300	6503	SO:0001587	stop_gained	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7811277C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5092C>T	17.37:g.7811277C>T	ENSP00000332628:p.Arg1698*					CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|CHD3_ENST00000330494.7_Nonsense_Mutation_p.R1698*	p.R1757*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			34	5270	+		Prostate(122;0.202)	1698			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	37	c.5269C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	45	11.358056	0.99551	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235	.	.	.	4.83	4.83	0.62350	.	0.000000	0.43416	D	0.000566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.2051	11.0777	0.48040	0.3173:0.6827:0.0:0.0	.	.	.	.	X	1757;1664;1698;26	.	ENSP00000332628:R1698X	R	+	1	2	CHD3	7752002	0.142000	0.22610	0.996000	0.52242	0.980000	0.70556	0.737000	0.26144	2.509000	0.84616	0.561000	0.74099	CGA		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		83	428	0	0	0	1	0	83	428				
TFEC	22797	broad.mit.edu	37	7	115580909	115580909	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580909A>G	ENST00000265440.7	-	8	920	c.740T>C	c.(739-741)gTc>gCc	p.V247A	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.V218A|TFEC_ENST00000457268.1_Missense_Mutation_p.V180A	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	247					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTGTTTGGTGACATGAGCACC	0.468																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(739-741)gTc>gCc		transcription factor EC							124.0	125.0	125.0					7																	115580909		2203	4300	6503	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580909A>G	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.740T>C	7.37:g.115580909A>G	ENSP00000265440:p.Val247Ala					TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.V218A|TFEC_ENST00000457268.1_Missense_Mutation_p.V180A	p.V247A	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	920	-			247					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.740T>C	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042192	0.35989	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.64803	-0.12;-0.12;-0.12	5.04	3.86	0.44501	.	0.308377	0.35378	N	0.003250	T	0.54498	0.1862	L	0.48877	1.53	0.42132	D	0.991472	B;B	0.32302	0.359;0.363	B;B	0.37601	0.108;0.254	T	0.50224	-0.8853	10	0.18710	T	0.47	-0.6008	11.2959	0.49277	0.924:0.0:0.076:0.0	.	218;247	O14948-2;O14948	.;TFEC_HUMAN	A	247;180;218	ENSP00000265440:V247A;ENSP00000387650:V180A;ENSP00000318676:V218A	ENSP00000265440:V247A	V	-	2	0	TFEC	115368145	1.000000	0.71417	0.906000	0.35671	0.899000	0.52679	3.858000	0.55979	2.012000	0.59069	0.528000	0.53228	GTC		0.468	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		95	494	0	0	0	1	0	95	494				
MAD2L1	4085	broad.mit.edu	37	4	120981442	120981442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120981442G>A	ENST00000296509.6	-	5	788	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	150	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CAGATCAAATGAACCTAAATT	0.363																																						ENST00000296509.5																			0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.(448-450)tCa>tTa		MAD2 mitotic arrest deficient-like 1 (yeast)							47.0	44.0	45.0					4																	120981442		2203	4300	6503	SO:0001583	missense	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120981442G>A	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.449C>T	4.37:g.120981442G>A	ENSP00000296509:p.Ser150Leu						p.S150L	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN			5	788	-			150			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	37	c.449C>T	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821885	0.90873	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	5.13	0.70059	DNA-binding HORMA (4);	0.304482	0.34002	N	0.004354	T	0.75436	0.3849	M	0.77486	2.375	0.58432	D	0.999999	B	0.32800	0.385	B	0.42062	0.374	T	0.77373	-0.2612	9	0.59425	D	0.04	-4.4885	18.9343	0.92579	0.0:0.0:1.0:0.0	.	150	Q13257	MD2L1_HUMAN	L	150	.	ENSP00000296509:S150L	S	-	2	0	MAD2L1	121200890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.265000	0.95647	2.542000	0.85734	0.591000	0.81541	TCA		0.363	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			10	133	0	0	0	1	0	10	133				
LILRA5	353514	broad.mit.edu	37	19	54822915	54822915	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54822915G>T	ENST00000301219.3	-	5	600	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K|LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	161	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCACACTGGAGGGTCACG	0.562																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(481-483)Cag>Aag		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							77.0	76.0	76.0					19																	54822915		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822915G>T	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.481C>A	19.37:g.54822915G>T	ENSP00000301219:p.Gln161Lys					LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K|LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K|AC008984.2_ENST00000507363.1_RNA	p.Q161K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	600	-	Ovarian(34;0.19)		161			Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.481C>A	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515449	0.12944	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03181	4.02;4.02;4.02;4.02	3.14	2.04	0.26737	Immunoglobulin-like fold (1);	0.690178	0.11907	U	0.518010	T	0.05823	0.0152	M	0.68952	2.095	0.09310	N	1	B;B;B;B	0.29115	0.106;0.233;0.094;0.11	B;B;B;B	0.29077	0.071;0.056;0.03;0.098	T	0.27839	-1.0062	10	0.51188	T	0.08	.	7.5281	0.27666	0.0:0.0:0.7427:0.2573	.	149;161;149;161	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	K	161;149;149;161	ENSP00000301219:Q161K;ENSP00000302948:Q149K;ENSP00000389499:Q149K;ENSP00000404236:Q161K	ENSP00000301219:Q161K	Q	-	1	0	LILRA5	59514727	0.538000	0.26394	0.176000	0.23000	0.021000	0.10359	1.675000	0.37555	0.407000	0.25591	0.205000	0.17691	CAG		0.562	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		90	387	1	0	4.21487e-37	1	5.05809e-37	90	387				
SLITRK4	139065	broad.mit.edu	37	X	142717676	142717676	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142717676T>C	ENST00000381779.4	-	2	1474	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E	SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	417						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACGTCTCCCTTAATCACTGTA	0.383																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1249-1251)Aag>Gag		SLIT and NTRK-like family, member 4							133.0	113.0	120.0					X																	142717676		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717676T>C	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1249A>G	X.37:g.142717676T>C	ENSP00000371198:p.Lys417Glu					SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E	p.K417E	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1474	-	Acute lymphoblastic leukemia(192;6.56e-05)		417					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1249A>G	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	9.702	1.154735	0.21371	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.50001	0.76;0.76;0.76	5.29	4.09	0.47781	.	0.172029	0.47852	D	0.000218	T	0.18841	0.0452	N	0.01817	-0.705	0.35030	D	0.758698	B	0.02656	0.0	B	0.06405	0.002	T	0.15263	-1.0443	10	0.10902	T	0.67	-12.1744	9.6744	0.40032	0.0:0.0:0.3327:0.6672	.	417	Q8IW52	SLIK4_HUMAN	E	417	ENSP00000371198:K417E;ENSP00000349400:K417E;ENSP00000336627:K417E	ENSP00000336627:K417E	K	-	1	0	SLITRK4	142545342	1.000000	0.71417	0.885000	0.34714	0.972000	0.66771	1.931000	0.40134	0.718000	0.32166	0.437000	0.28790	AAG		0.383	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		123	397	0	0	0	1	0	123	397				
SMEK2	57223	broad.mit.edu	37	2	55825941	55825941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825941G>A	ENST00000345102.5	-	4	833	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SMEK2_ENST00000407823.3_Silent_p.L178L|SMEK2_ENST00000272313.5_Silent_p.L178L	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	178					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTGGAACAGCTGCAATAGT	0.398																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(532-534)Ctg>Ttg		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							78.0	83.0	81.0					2																	55825941		2203	4300	6503	SO:0001819	synonymous_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825941G>A	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.532C>T	2.37:g.55825941G>A						SMEK2_ENST00000345102.5_Silent_p.L178L|SMEK2_ENST00000407823.3_Silent_p.L178L	p.L178L	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	859	-			178					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	37	c.532C>T	CCDS46289.1																																																																																				0.398	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		58	300	0	0	0	1	0	58	300				
ZNF624	57547	broad.mit.edu	37	17	16537218	16537218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16537218G>A	ENST00000311331.7	-	5	425	c.334C>T	c.(334-336)Cca>Tca	p.P112S	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	112	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTCACCCATGGTCCTTTCCCA	0.413																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(334-336)Cca>Tca		zinc finger protein 624							93.0	83.0	86.0					17																	16537218		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16537218G>A	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.334C>T	17.37:g.16537218G>A	ENSP00000310472:p.Pro112Ser					ZNF624_ENST00000579983.1_5'UTR	p.P112S	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	425	-			112			KRAB.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.334C>T	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194827	0.22037	.	.	ENSG00000197566	ENST00000311331	T	0.08282	3.11	3.63	2.65	0.31530	Krueppel-associated box (2);	.	.	.	.	T	0.20780	0.0500	L	0.59967	1.855	0.23673	N	0.997146	D	0.89917	1.0	D	0.79108	0.992	T	0.03695	-1.1012	9	0.36615	T	0.2	.	8.7679	0.34713	0.118:0.0:0.882:0.0	.	112	Q9P2J8	ZN624_HUMAN	S	112	ENSP00000310472:P112S	ENSP00000310472:P112S	P	-	1	0	ZNF624	16477943	0.999000	0.42202	1.000000	0.80357	0.914000	0.54420	3.196000	0.51020	2.046000	0.60703	0.591000	0.81541	CCA		0.413	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		19	176	0	0	0	1	0	19	176				
INTS2	57508	broad.mit.edu	37	17	59947320	59947320	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59947320C>T	ENST00000444766.3	-	21	2907	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	INTS2_ENST00000251334.6_Silent_p.E936E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	944					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTAGGCAAATCTCTAAGAGAA	0.343																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(2830-2832)gaG>gaA		integrator complex subunit 2							53.0	52.0	52.0					17																	59947320		1832	4092	5924	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59947320C>T	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2832G>A	17.37:g.59947320C>T						INTS2_ENST00000251334.6_Silent_p.E936E	p.E944E	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			21	2907	-			944					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.2832G>A	CCDS45750.1																																																																																				0.343	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		8	248	0	0	0	1	0	8	248				
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			1	Substitution - Missense(1)	p.R760Q(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2278-2280)cGa>cAa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							180.0	146.0	158.0					7																	84628811		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628811C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2279G>A	7.37:g.84628811C>T	ENSP00000284136:p.Arg760Gln					SEMA3D_ENST00000484038.1_5'UTR	p.R760Q	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2322	-			760			Arg/Lys-rich (basic).		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2279G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155987	0.78114	.	.	ENSG00000153993	ENST00000284136	T	0.36699	1.24	5.93	5.93	0.95920	.	0.114181	0.56097	D	0.000021	T	0.63070	0.2480	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62581	-0.6824	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	760	O95025	SEM3D_HUMAN	Q	760	ENSP00000284136:R760Q	ENSP00000284136:R760Q	R	-	2	0	SEMA3D	84466747	1.000000	0.71417	0.980000	0.43619	0.271000	0.26615	7.224000	0.78042	2.814000	0.96858	0.655000	0.94253	CGA		0.453	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		98	358	0	0	0	1	0	98	358				
MSTO1	55154	broad.mit.edu	37	1	155581999	155581999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155581999C>T	ENST00000245564.2	+	8	729	c.705C>T	c.(703-705)caC>caT	p.H235H	MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	235					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GTGACCTGCACGATGGCTTCT	0.567																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(703-705)caC>caT		misato 1, mitochondrial distribution and morphology regulator							40.0	44.0	43.0					1																	155581999		2201	4300	6501	SO:0001819	synonymous_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155581999C>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.705C>T	1.37:g.155581999C>T						MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	p.H235H	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			8	729	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		235					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	37	c.705C>T	CCDS1114.1																																																																																				0.567	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		52	269	0	0	0	1	0	52	269				
VPS13B	157680	broad.mit.edu	37	8	100454751	100454751	+	Silent	SNP	G	G	A	rs367791771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100454751G>A	ENST00000358544.2	+	23	3444	c.3333G>A	c.(3331-3333)ccG>ccA	p.P1111P	VPS13B_ENST00000357162.2_Silent_p.P1111P|VPS13B_ENST00000395996.1_Silent_p.P1111P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1111					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAGCATGCCGGGAACACTTG	0.443																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3331-3333)ccG>ccA		vacuolar protein sorting 13 homolog B (yeast)		G	,	0,4406		0,0,2203	142.0	132.0	135.0		3333,3333	-1.0	1.0	8		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13B	NM_017890.3,NM_152564.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1111/4023,1111/3998	100454751	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100454751G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3333G>A	8.37:g.100454751G>A						VPS13B_ENST00000358544.2_Silent_p.P1111P|VPS13B_ENST00000357162.2_Silent_p.P1111P	p.P1111P			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3444	+	Breast(36;3.73e-07)		1111					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.3333G>A	CCDS6280.1																																																																																				0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	409	0	0	0	1	0	8	409				
TNR	7143	broad.mit.edu	37	1	175365935	175365935	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175365935G>T	ENST00000367674.2	-	5	1693	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TNR_ENST00000263525.2_Missense_Mutation_p.P329T			Q92752	TENR_HUMAN	tenascin R	329	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTCCTCTGGAGGGGCAACT	0.557																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(985-987)Cca>Aca		tenascin R							74.0	77.0	76.0					1																	175365935		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365935G>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.985C>A	1.37:g.175365935G>T	ENSP00000356646:p.Pro329Thr					TNR_ENST00000263525.2_Missense_Mutation_p.P329T	p.P329T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1693	-	Renal(580;0.146)		329			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.985C>A	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.291601|4.291601	0.80914|0.80914	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.79845|.	-1.31;-1.31|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.060171|.	0.64402|.	D|.	0.000003|.	D|D	0.84442|0.84442	0.5473|0.5473	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59767|.	0.986|.	D|.	0.65573|.	0.936|.	D|D	0.85106|0.85106	0.0960|0.0960	10|5	0.72032|.	D|.	0.01|.	.|.	19.9698|19.9698	0.97280|0.97280	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329|.	Q92752|.	TENR_HUMAN|.	T|Y	329|53	ENSP00000356646:P329T;ENSP00000263525:P329T|.	ENSP00000263525:P329T|.	P|S	-|-	1|2	0|0	TNR|TNR	173632558|173632558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.286000|3.286000	0.51724|0.51724	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		89	545	1	0	1.41191e-52	1	1.75639e-52	89	545				
NUP50	10762	broad.mit.edu	37	22	45567527	45567527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45567527C>A	ENST00000347635.4	+	3	582	c.116C>A	c.(115-117)gCc>gAc	p.A39D	NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D|NUP50_ENST00000425733.2_5'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	39					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGAATAGAGCCATAAAGAAA	0.403																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(115-117)gCc>gAc		nucleoporin 50kDa							118.0	113.0	115.0					22																	45567527		2203	4300	6503	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45567527C>A	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.116C>A	22.37:g.45567527C>A	ENSP00000345895:p.Ala39Asp					NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D	p.A39D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	3	582	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	39					B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.116C>A	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342059	0.81911	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000424634;ENST00000430547;ENST00000396096;ENST00000422489	.	.	.	4.82	4.82	0.62117	Nuclear pore complex, NUP2/50/61 (1);	0.115168	0.64402	D	0.000018	T	0.69205	0.3085	M	0.68317	2.08	0.80722	D	1	D	0.61697	0.99	D	0.63703	0.917	T	0.65471	-0.6160	9	0.22109	T	0.4	-14.7002	13.265	0.60128	0.1587:0.8413:0.0:0.0	.	39	Q9UKX7	NUP50_HUMAN	D	39;11;39;39;11;39	.	ENSP00000345895:A39D	A	+	2	0	NUP50	43946191	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.659000	0.74412	2.384000	0.81235	0.563000	0.77884	GCC		0.403	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			68	374	1	0	9.42754e-34	1	1.11862e-33	68	374				
MYOM3	127294	broad.mit.edu	37	1	24406591	24406591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24406591G>A	ENST00000374434.3	-	20	2663	c.2501C>T	c.(2500-2502)aCa>aTa	p.T834I	MYOM3_ENST00000475306.1_5'Flank|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I|MYOM3_ENST00000330966.7_Missense_Mutation_p.T835I|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	834	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGATAGCCTGTGACAGGCCC	0.627																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(2503-2505)aCa>aTa		myomesin 3							57.0	63.0	61.0					1																	24406591		1950	4148	6098	SO:0001583	missense	127294							g.chr1:24406591G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2501C>T	1.37:g.24406591G>A	ENSP00000363557:p.Thr834Ile					MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.T834I	p.T835I			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	20	2666	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	834			Fibronectin type-III 5.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.2504C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587235	0.28268	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.59638	0.25;0.25;0.25	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.63208	1.945	0.41796	D	0.989896	B;B	0.19817	0.026;0.039	B;B	0.28709	0.093;0.045	T	0.53556	-0.8422	10	0.33141	T	0.24	.	13.684	0.62504	0.0735:0.0:0.9265:0.0	.	834;834	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	I	834;835;834	ENSP00000363557:T834I;ENSP00000332670:T835I;ENSP00000328415:T834I	ENSP00000328415:T834I	T	-	2	0	MYOM3	24279178	1.000000	0.71417	0.965000	0.40720	0.012000	0.07955	4.261000	0.58841	2.600000	0.87896	0.655000	0.94253	ACA		0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		38	336	0	0	0	1	0	38	336				
OTX2	5015	broad.mit.edu	37	14	57268778	57268778	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57268778G>T	ENST00000555006.1	-	4	953	c.545C>A	c.(544-546)gCt>gAt	p.A182D	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.A190D|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A182D|RP11-1085N6.6_ENST00000602485.1_lincRNA			P32243	OTX2_HUMAN	orthodenticle homeobox 2	182					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATAACCTGAAGCCTGAGTATA	0.522																																						ENST00000339475.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(568-570)gCt>gAt		orthodenticle homeobox 2							119.0	109.0	112.0					14																	57268778		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268778G>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.545C>A	14.37:g.57268778G>T	ENSP00000452336:p.Ala182Asp					OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A182D|OTX2_ENST00000555006.1_Missense_Mutation_p.A182D	p.A190D	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			5	845	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		182					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.569C>A	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010981	0.54361	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	6.06	5.17	0.71159	Transcription factor Otx, C-terminal (1);	0.000000	0.42053	D	0.000764	D	0.91915	0.7440	M	0.78049	2.395	0.80722	D	1	P;P	0.49696	0.927;0.775	P;P	0.51742	0.678;0.67	D	0.92564	0.6060	10	0.66056	D	0.02	.	14.119	0.65175	0.0723:0.0:0.9277:0.0	.	190;182	F1T0D1;P32243	.;OTX2_HUMAN	D	190;182;182;190	ENSP00000343819:A190D;ENSP00000386185:A182D;ENSP00000452336:A182D;ENSP00000451357:A190D	ENSP00000343819:A190D	A	-	2	0	OTX2	56338531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.576000	0.49790	0.655000	0.94253	GCT		0.522	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		75	267	1	0	4.14589e-37	1	4.97555e-37	75	267				
STAT4	6775	broad.mit.edu	37	2	191905836	191905836	+	Silent	SNP	C	C	T	rs145312304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191905836C>T	ENST00000392320.2	-	15	1604	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.T430T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	430					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTGTTTCAAACGTTATGGAAT	0.383																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1288-1290)acG>acA		signal transducer and activator of transcription 4		T		3,4403	6.2+/-15.9	0,3,2200	136.0	128.0	131.0		1290	0.9	1.0	2	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	STAT4	NM_003151.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		430/749	191905836	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191905836C>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1290G>A	2.37:g.191905836C>T						STAT4_ENST00000358470.4_Silent_p.T430T|STAT4_ENST00000470708.1_5'UTR	p.T430T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		15	1604	-			430					Q96NZ6	Silent	SNP	ENST00000392320.2	37	c.1290G>A	CCDS2310.1																																																																																				0.383	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		125	409	0	0	0	1	0	125	409				
GPR183	1880	broad.mit.edu	37	13	99947758	99947758	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99947758G>T	ENST00000376414.4	-	2	725	c.642C>A	c.(640-642)atC>atA	p.I214I	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	214					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GAGAATAGCAGATGAGAATGA	0.393																																						ENST00000376414.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						c.(640-642)atC>atA		G protein-coupled receptor 183							74.0	74.0	74.0					13																	99947758		2203	4297	6500	SO:0001819	synonymous_variant	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99947758G>T	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.642C>A	13.37:g.99947758G>T						UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	p.I214I	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN			2	725	-			214					B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	37	c.642C>A	CCDS9492.1																																																																																				0.393	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		30	458	1	0	1.75199e-13	1	1.89187e-13	30	458				
ATP13A5	344905	broad.mit.edu	37	3	193036817	193036817	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036817T>C	ENST00000342358.4	-	17	2113	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	666						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCCCCATCTTTAAGGTTTTG	0.498																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1996-1998)Aag>Gag		ATPase type 13A5							140.0	141.0	141.0					3																	193036817		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193036817T>C	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1996A>G	3.37:g.193036817T>C	ENSP00000341942:p.Lys666Glu						p.K666E	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	17	2113	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		666					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1996A>G	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.678550	0.00751	.	.	ENSG00000187527	ENST00000342358	T	0.69561	-0.41	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.607321	0.17170	N	0.184335	T	0.35038	0.0918	N	0.02296	-0.605	0.09310	N	0.999996	B	0.06786	0.001	B	0.11329	0.006	T	0.27938	-1.0059	10	0.02654	T	1	-2.4489	8.7358	0.34528	0.0:0.0835:0.0:0.9165	.	666	Q4VNC0	AT135_HUMAN	E	666	ENSP00000341942:K666E	ENSP00000341942:K666E	K	-	1	0	ATP13A5	194519511	0.372000	0.25064	0.047000	0.18901	0.004000	0.04260	1.395000	0.34520	2.251000	0.74343	0.533000	0.62120	AAG		0.498	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		127	549	0	0	0	1	0	127	549				
STXBP1	6812	broad.mit.edu	37	9	130430387	130430387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130430387C>T	ENST00000373299.1	+	10	938	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R275W	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	275					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGGGGAGGCACGGGTGAAGGA	0.592																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(823-825)Cgg>Tgg		syntaxin binding protein 1							98.0	85.0	90.0					9																	130430387		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130430387C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.823C>T	9.37:g.130430387C>T	ENSP00000362396:p.Arg275Trp					STXBP1_ENST00000373299.1_Missense_Mutation_p.R275W	p.R275W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			10	962	+			275					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.823C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897959	0.72639	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80653	-1.4;-1.4	5.95	4.09	0.47781	.	0.051872	0.85682	N	0.000000	D	0.88284	0.6395	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.663	D	0.89115	0.3499	10	0.72032	D	0.01	-24.1287	13.7543	0.62926	0.2788:0.7212:0.0:0.0	.	275;275	P61764;P61764-2	STXB1_HUMAN;.	W	229;275;107;275	ENSP00000362399:R275W;ENSP00000362396:R275W	ENSP00000362396:R275W	R	+	1	2	STXBP1	129470208	0.889000	0.30405	0.703000	0.30354	0.505000	0.33919	1.803000	0.38863	0.834000	0.34852	0.491000	0.48974	CGG		0.592	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		41	217	0	0	0	1	0	41	217				
MMP2	4313	broad.mit.edu	37	16	55523659	55523659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55523659G>A	ENST00000219070.4	+	7	1612	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	MMP2_ENST00000570308.1_Missense_Mutation_p.R292H|MMP2_ENST00000437642.2_Missense_Mutation_p.R318H|MMP2_ENST00000543485.1_Missense_Mutation_p.R292H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	368	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGCGCCGGCCGCAGTGACGGA	0.582																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1102-1104)cGc>cAc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						109.0	97.0	101.0					16																	55523659		2198	4300	6498	SO:0001583	missense	0				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523659G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1103G>A	16.37:g.55523659G>A	ENSP00000219070:p.Arg368His					MMP2_ENST00000570308.1_Missense_Mutation_p.R292H|MMP2_ENST00000543485.1_Missense_Mutation_p.R292H|MMP2_ENST00000437642.2_Missense_Mutation_p.R318H	p.R368H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1612	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	368			Collagen-binding.|Fibronectin type-II 3.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1103G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879572	0.91740	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.53640	0.61;0.61;0.61	4.91	4.91	0.64330	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.81826	-0.0754	10	0.87932	D	0	.	18.459	0.90731	0.0:0.0:1.0:0.0	.	318;368	E9PE45;P08253	.;MMP2_HUMAN	H	368;292;318	ENSP00000219070:R368H;ENSP00000444143:R292H;ENSP00000394237:R318H	ENSP00000219070:R368H	R	+	2	0	MMP2	54081160	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.813000	0.99286	2.423000	0.82170	0.655000	0.94253	CGC		0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			118	451	0	0	0	1	0	118	451				
ZBTB8A	653121	broad.mit.edu	37	1	33058584	33058584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33058584C>T	ENST00000373510.4	+	3	281	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAACGAGCAGCGCAGGCAAGA	0.418																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(52-54)Cgc>Tgc		zinc finger and BTB domain containing 8A							65.0	60.0	62.0					1																	33058584		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058584C>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.52C>T	1.37:g.33058584C>T	ENSP00000362609:p.Arg18Cys					RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C	p.R18C	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	281	+			18					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.52C>T	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107142	0.77096	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.73152	-0.72;-0.72	5.32	5.32	0.75619	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	D	0.88217	0.6377	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90743	0.4651	10	0.87932	D	0	-12.0923	18.3637	0.90384	0.0:1.0:0.0:0.0	.	18;18	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	C	18	ENSP00000362609:R18C;ENSP00000317561:R18C	ENSP00000317561:R18C	R	+	1	0	ZBTB8A	32831171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.560000	0.67332	2.651000	0.90000	0.585000	0.79938	CGC		0.418	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		26	157	0	0	0	1	0	26	157				
ITGA5	3678	broad.mit.edu	37	12	54795226	54795226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54795226G>A	ENST00000293379.4	-	24	2685	c.2424C>T	c.(2422-2424)agC>agT	p.S808S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	808					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GATGCCAGTCGCTTACTGGGA	0.572																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(2422-2424)agC>agT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							129.0	129.0	129.0					12																	54795226		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795226G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2424C>T	12.37:g.54795226G>A						RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.S808S	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			24	2685	-			808					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.2424C>T	CCDS8880.1																																																																																				0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			81	815	0	0	0	1	0	81	815				
PHYH	5264	broad.mit.edu	37	10	13330532	13330532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13330532G>A	ENST00000263038.4	-	6	564	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PHYH_ENST00000396913.2_Missense_Mutation_p.T69M|PHYH_ENST00000396920.3_Missense_Mutation_p.T152M	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	169					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GTGACGGGACGTCTTCTTGCC	0.542																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(454-456)aCg>aTg		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						73.0	74.0	74.0					10																	13330532		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13330532G>A		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.506C>T	10.37:g.13330532G>A	ENSP00000263038:p.Thr169Met					PHYH_ENST00000263038.4_Missense_Mutation_p.T169M|PHYH_ENST00000396913.2_Missense_Mutation_p.T69M	p.T152M			O14832	PAHX_HUMAN			6	859	-		Ovarian(717;0.0448)	169					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.455C>T	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176313	0.78564	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.8	4.89	0.63831	.	0.046113	0.85682	D	0.000000	D	0.95762	0.8621	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	D	0.96017	0.9006	10	0.87932	D	0	-23.7368	11.1462	0.48432	0.0:0.254:0.6126:0.1333	.	152;169	B1ALH6;O14832	.;PAHX_HUMAN	M	69;169;152;69;171	ENSP00000380121:T69M;ENSP00000263038:T169M;ENSP00000380126:T152M;ENSP00000412525:T69M;ENSP00000420117:T171M	ENSP00000263038:T169M	T	-	2	0	PHYH	13370538	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	5.212000	0.65225	1.444000	0.47605	0.655000	0.94253	ACG		0.542	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			14	366	0	0	0	1	0	14	366				
IQSEC3	440073	broad.mit.edu	37	12	250375	250375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:250375C>T	ENST00000538872.1	+	5	2195	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	693	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTCCTCCAGCGAAAGGGCCT	0.612																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2077-2079)Cga>Tga		IQ motif and Sec7 domain 3							98.0	93.0	94.0					12																	250375		2203	4300	6503	SO:0001587	stop_gained	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:250375C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2077C>T	12.37:g.250375C>T	ENSP00000437554:p.Arg693*					RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*|RP11-598F7.4_ENST00000508953.2_RNA	p.R693*			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	5	2195	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		693			SEC7.		A6NIF2|A6NKV9|Q8TB43	Nonsense_Mutation	SNP	ENST00000538872.1	37	c.2077C>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	40	8.302209	0.98750	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	.	.	.	5.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0142	0.64515	0.3356:0.6644:0.0:0.0	.	.	.	.	X	693;693;390	.	ENSP00000315662:R693X	R	+	1	2	IQSEC3	120636	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.531000	0.36018	2.763000	0.94921	0.561000	0.74099	CGA		0.612	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		63	450	0	0	0	1	0	63	450				
CEACAM5	1048	broad.mit.edu	37	19	42223929	42223929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42223929C>T	ENST00000221992.6	+	7	1687	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	525	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACCTGTGAACCTGAGGCTCA	0.567																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1573-1575)Cct>Tct		carcinoembryonic antigen-related cell adhesion molecule 5							163.0	140.0	148.0					19																	42223929		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42223929C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1573C>T	19.37:g.42223929C>T	ENSP00000221992:p.Pro525Ser					CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S	p.P525S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1687	+			525			Ig-like 6.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1573C>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.682|4.682	0.126783|0.126783	0.08931|0.08931	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.02446|.	4.29;4.29|.	2.53|2.53	0.1|0.1	0.14510|0.14510	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.32615|0.32615	0.0835|0.0835	L|L	0.37800|0.37800	1.135|1.135	0.09310|0.09310	N|N	1|1	B;B|.	0.27700|.	0.032;0.186|.	B;B|.	0.35073|.	0.108;0.195|.	T|T	0.28650|0.28650	-1.0037|-1.0037	9|5	0.44086|.	T|.	0.13|.	.|.	6.8499|6.8499	0.24008|0.24008	0.5356:0.4644:0.0:0.0|0.5356:0.4644:0.0:0.0	.|.	525;525|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	S|I	525;525;243|520	ENSP00000221992:P525S;ENSP00000385072:P525S|.	ENSP00000221992:P525S|.	P|T	+|+	1|2	0|0	CEACAM5|CEACAM5	46915769|46915769	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.072000|0.072000	0.16883|0.16883	-4.237000|-4.237000	0.00268|0.00268	0.076000|0.076000	0.16826|0.16826	0.404000|0.404000	0.27445|0.27445	CCT|ACC		0.567	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		131	682	0	0	0	1	0	131	682				
B9D2	80776	broad.mit.edu	37	19	41860620	41860620	+	Silent	SNP	G	G	A	rs143680317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41860620G>A	ENST00000243578.3	-	4	732	c.513C>T	c.(511-513)taC>taT	p.Y171Y	TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron|TGFB1_ENST00000221930.5_5'Flank	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	171					cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						ACTCCACGCCGTAGCGGTCGA	0.637													g|||	5	0.000998403	0.0008	0.0	5008	,	,		17417	0.004		0.0	False		,,,				2504	0.0					ENST00000243578.3																			0				large_intestine(1)|ovary(1)	2						c.(511-513)taC>taT		B9 protein domain 2				1,4405	2.1+/-5.4	0,1,2202	85.0	69.0	74.0		513	-7.2	0.0	19	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B9D2	NM_030578.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		171/176	41860620	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80776				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding	g.chr19:41860620G>A	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.513C>T	19.37:g.41860620G>A						TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	p.Y171Y	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN			4	732	-			171						Silent	SNP	ENST00000243578.3	37	c.513C>T	CCDS12579.1																																																																																				0.637	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		41	250	0	0	0	1	0	41	250				
NTN5	126147	broad.mit.edu	37	19	49167894	49167894	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49167894G>A	ENST00000270235.4	-	3	857	c.762C>T	c.(760-762)tgC>tgT	p.C254C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	254	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACCCAGGTTGGCAGTAGTGGC	0.657																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(760-762)tgC>tgT		netrin 5							32.0	29.0	30.0					19																	49167894		2203	4300	6503	SO:0001819	synonymous_variant	126147					extracellular region		g.chr19:49167894G>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.762C>T	19.37:g.49167894G>A						SEC1P_ENST00000430145.2_RNA	p.C254C	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			3	857	-			254			Laminin EGF-like 2.		Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	c.762C>T	CCDS33068.1																																																																																				0.657	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		21	133	0	0	0	1	0	21	133				
CTDSP2	10106	broad.mit.edu	37	12	58223343	58223343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58223343C>T	ENST00000398073.2	-	2	404	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	34					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GATGTTACGTCCACGAGGCTT	0.517																																						ENST00000398073.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(100-102)gGa>gAa		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							108.0	108.0	108.0					12																	58223343		1990	4171	6161	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58223343C>T	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.101G>A	12.37:g.58223343C>T	ENSP00000381148:p.Gly34Glu					CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E	p.G34E	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN			2	404	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		34					A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.101G>A	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567575	0.86439	.	.	ENSG00000175215	ENST00000398073;ENST00000548823	T;T	0.21932	2.38;1.98	4.68	4.68	0.58851	.	0.049788	0.85682	D	0.000000	T	0.31888	0.0811	L	0.34521	1.04	0.80722	D	1	D;B	0.89917	1.0;0.01	D;B	0.97110	1.0;0.01	T	0.01858	-1.1259	10	0.07482	T	0.82	-16.9848	16.8584	0.86011	0.0:1.0:0.0:0.0	.	34;34	F8W1I1;O14595	.;CTDS2_HUMAN	E	34	ENSP00000381148:G34E;ENSP00000447046:G34E	ENSP00000381148:G34E	G	-	2	0	CTDSP2	56509610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.984000	0.63838	2.592000	0.87571	0.655000	0.94253	GGA		0.517	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		47	467	0	0	0	1	0	47	467				
ATP12A	479	broad.mit.edu	37	13	25264578	25264578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264578G>A	ENST00000381946.3	+	6	816	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ATP12A_ENST00000218548.6_Missense_Mutation_p.D217N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	217					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GATCCCTGCAGACATCAGGGT	0.577																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(649-651)Gac>Aac		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						91.0	85.0	87.0					13																	25264578		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264578G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.649G>A	13.37:g.25264578G>A	ENSP00000371372:p.Asp217Asn					ATP12A_ENST00000381946.3_Missense_Mutation_p.D217N	p.D217N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	982	+		Lung SC(185;0.0225)|Breast(139;0.077)	217					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.649G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024448	0.93518	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99042	-5.36;-5.36	4.73	4.73	0.59995	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.99708	0.9888	H	0.99962	5.075	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.92	D	0.96736	0.9543	10	0.87932	D	0	.	15.2818	0.73790	0.0:0.0:1.0:0.0	.	217;217	P54707-2;P54707	.;AT12A_HUMAN	N	217	ENSP00000218548:D217N;ENSP00000371372:D217N	ENSP00000218548:D217N	D	+	1	0	ATP12A	24162578	1.000000	0.71417	0.985000	0.45067	0.945000	0.59286	9.371000	0.97162	2.445000	0.82738	0.643000	0.83706	GAC		0.577	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		70	384	0	0	0	1	0	70	384				
MYBPC2	4606	broad.mit.edu	37	19	50958825	50958825	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50958825A>G	ENST00000357701.5	+	20	2313	c.2262A>G	c.(2260-2262)acA>acG	p.T754T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	754	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCACCACCACACTCAAGTGGA	0.592																																						ENST00000357701.5																			0				breast(1)	1						c.(2260-2262)acA>acG		myosin binding protein C, fast type							93.0	96.0	95.0					19																	50958825		2013	4179	6192	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50958825A>G		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2262A>G	19.37:g.50958825A>G							p.T754T	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	20	2313	+		all_neural(266;0.057)	754			Fibronectin type-III 2.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.2262A>G	CCDS46152.1																																																																																				0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		94	418	0	0	0	1	0	94	418				
HADHA	3030	broad.mit.edu	37	2	26437387	26437387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26437387C>A	ENST00000380649.3	-	9	972	c.843G>T	c.(841-843)caG>caT	p.Q281H	HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	281					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTGTAAACCTGTTGCCTGA	0.363																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(841-843)caG>caT		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						146.0	135.0	139.0					2																	26437387		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26437387C>A	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.843G>T	2.37:g.26437387C>A	ENSP00000370023:p.Gln281His					HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	p.Q281H	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			9	972	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		281					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.843G>T	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053627	0.36277	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.72051	-0.62;-0.62	5.64	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.80982	2.52	0.53005	D	0.99996	P;P;P	0.45011	0.848;0.844;0.844	P;P;P	0.51055	0.652;0.657;0.657	T	0.65340	-0.6192	10	0.27785	T	0.31	-21.0299	4.6841	0.12750	0.138:0.4851:0.0:0.377	.	194;281;281	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	H	281;194	ENSP00000370023:Q281H;ENSP00000405344:Q194H	ENSP00000370023:Q281H	Q	-	3	2	HADHA	26290891	0.719000	0.27986	0.264000	0.24511	0.980000	0.70556	0.215000	0.17562	-0.075000	0.12798	-0.143000	0.13931	CAG		0.363	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		126	322	1	0	4.50961e-65	1	5.70143e-65	126	322				
CRX	1406	broad.mit.edu	37	19	48342916	48342916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342916G>A	ENST00000221996.7	+	4	798	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.A198T	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	198					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTACGCCCCGGCCTCCGCTTT	0.672																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(592-594)Gcc>Acc		cone-rod homeobox							61.0	64.0	63.0					19																	48342916		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342916G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.592G>A	19.37:g.48342916G>A	ENSP00000221996:p.Ala198Thr					CRX_ENST00000539067.1_Missense_Mutation_p.A198T|TPRX2P_ENST00000535362.1_Intron	p.A198T	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	798	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	198					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.592G>A	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481258	0.26598	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.87103	-2.21;-2.21	4.46	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.83889	0.5352	L	0.27053	0.805	0.37373	D	0.911731	D	0.56287	0.975	P	0.54372	0.75	T	0.82238	-0.0556	10	0.27785	T	0.31	-11.2854	10.3854	0.44136	0.0984:0.0:0.9016:0.0	.	198	O43186	CRX_HUMAN	T	198	ENSP00000221996:A198T;ENSP00000445565:A198T	ENSP00000221996:A198T	A	+	1	0	CRX	53034728	0.998000	0.40836	0.042000	0.18584	0.312000	0.27988	3.493000	0.53266	0.860000	0.35481	0.467000	0.42956	GCC		0.672	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		160	579	0	0	0	1	0	160	579				
MYBPC2	4606	broad.mit.edu	37	19	50944251	50944251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50944251C>T	ENST00000357701.5	+	8	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	229					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACGAGAAAATCGCCTTCCAGT	0.542																																						ENST00000357701.5																			0				breast(1)	1						c.(685-687)atC>atT		myosin binding protein C, fast type							41.0	45.0	44.0					19																	50944251		2093	4247	6340	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944251C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.687C>T	19.37:g.50944251C>T							p.I229I	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	8	738	+		all_neural(266;0.057)	229					A1L4G9	Silent	SNP	ENST00000357701.5	37	c.687C>T	CCDS46152.1																																																																																				0.542	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		23	83	0	0	0	1	0	23	83				
PXK	54899	broad.mit.edu	37	3	58395340	58395340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58395340C>T	ENST00000356151.2	+	15	1499	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000463280.1_Nonsense_Mutation_p.R431*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTAGCTCGAAAGGTAAG	0.418																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1291-1293)Cga>Tga		PX domain containing serine/threonine kinase							38.0	37.0	37.0					3																	58395340		2202	4299	6501	SO:0001587	stop_gained	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58395340C>T	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1390C>T	3.37:g.58395340C>T	ENSP00000348472:p.Arg464*					PXK_ENST00000356151.2_Nonsense_Mutation_p.R464*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*	p.R431*			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	13	1382	+			464			Protein kinase.			Nonsense_Mutation	SNP	ENST00000356151.2	37	c.1291C>T	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.792770|7.792770	0.98492|0.98492	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660|ENST00000536750	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65842	.|0.2730	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69135	.|-0.5225	.|3	0.08381|.	T|.	0.77|.	-9.0252|-9.0252	14.5269|14.5269	0.67894|0.67894	0.1458:0.8542:0.0:0.0|0.1458:0.8542:0.0:0.0	.|.	.|.	.|.	.|.	X|L	464;447;431;431;447;464;447;327|326	.|.	ENSP00000305045:R447X|.	R|S	+|+	1|2	2|0	PXK|PXK	58370380|58370380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.316000|2.316000	0.43761|0.43761	2.759000|2.759000	0.94783|0.94783	0.643000|0.643000	0.83706|0.83706	CGA|TCG		0.418	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		27	126	0	0	0	1	0	27	126				
DDX26B	203522	broad.mit.edu	37	X	134711279	134711279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134711279C>T	ENST00000370752.4	+	14	2269	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	645								p.G645G(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGTGGGCGGAAAGGGAC	0.488																																						ENST00000370752.4																			2	Substitution - coding silent(2)	p.G645G(2)	large_intestine(1)|endometrium(1)	large_intestine(1)|lung(8)	9						c.(1933-1935)ggC>ggT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							220.0	178.0	192.0					X																	134711279		2203	4300	6503	SO:0001819	synonymous_variant	203522							g.chrX:134711279C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1935C>T	X.37:g.134711279C>T						DDX26B_ENST00000493637.1_Intron	p.G645G	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			14	2269	+	Acute lymphoblastic leukemia(192;6.56e-05)		645					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	c.1935C>T	CCDS35401.1																																																																																				0.488	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		65	620	0	0	0	1	0	65	620				
ATP2A1	487	broad.mit.edu	37	16	28913689	28913689	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913689C>T	ENST00000357084.3	+	17	2773	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C|ATP2A1_ENST00000395503.4_Missense_Mutation_p.R836C	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	836					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCTCTTCTTCCGCTACATGGC	0.662																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2506-2508)Cgc>Tgc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							42.0	49.0	46.0					16																	28913689		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913689C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2506C>T	16.37:g.28913689C>T	ENSP00000349595:p.Arg836Cys					ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R836C	p.R836C	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			17	2690	+			836					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2506C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674581	0.67928	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96168	-3.93;-3.93;-3.93	4.83	3.88	0.44766	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.98766	1.0726	10	0.87932	D	0	.	12.2849	0.54788	0.0:0.9152:0.0:0.0848	.	711;836;836	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	C	836;836;711	ENSP00000349595:R836C;ENSP00000378879:R836C;ENSP00000443101:R711C	ENSP00000349595:R836C	R	+	1	0	ATP2A1	28821190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.778000	0.68940	1.250000	0.43966	0.561000	0.74099	CGC		0.662	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		44	508	0	0	0	1	0	44	508				
ADORA2A	135	broad.mit.edu	37	22	24829461	24829461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24829461C>T	ENST00000337539.7	+	2	548	c.89C>T	c.(88-90)gCc>gTc	p.A30V	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	30					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GTGTGCTGGGCCGTGTGGCTC	0.617																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(88-90)gCc>gTc		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						143.0	86.0	105.0					22																	24829461		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24829461C>T	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.89C>T	22.37:g.24829461C>T	ENSP00000336630:p.Ala30Val					ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|KB-1896H10.1_ENST00000358654.2_3'UTR	p.A30V	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			2	548	+	Colorectal(2;0.196)		30					B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.89C>T	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963669	0.92791	.	.	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.33216	1.42;2.22;2.22;1.42;1.42	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	T	0.55289	-0.8164	10	0.51188	T	0.08	-14.2269	16.4299	0.83839	0.0:1.0:0.0:0.0	.	30	P29274	AA2AR_HUMAN	V	30	ENSP00000404497:A30V;ENSP00000414802:A30V;ENSP00000336630:A30V;ENSP00000397071:A30V;ENSP00000400190:A30V	ENSP00000336630:A30V	A	+	2	0	ADORA2A	23159461	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.463000	0.80869	2.350000	0.79820	0.561000	0.74099	GCC		0.617	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		79	295	0	0	0	1	0	79	295				
NXPE3	91775	broad.mit.edu	37	3	101520807	101520807	+	Silent	SNP	C	C	T	rs201844634		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101520807C>T	ENST00000491511.2	+	5	1778	c.822C>T	c.(820-822)acC>acT	p.T274T	NXPE3_ENST00000273347.5_Silent_p.T274T|NXPE3_ENST00000422132.1_Silent_p.T274T|NXPE3_ENST00000477909.1_Silent_p.T274T	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	274						extracellular region (GO:0005576)											GTCTCCTAACCGCTGCAGAGA	0.468																																						ENST00000422132.1																			0											c.(820-822)acC>acT		neurexophilin and PC-esterase domain family, member 3							90.0	96.0	94.0					3																	101520807		2198	4298	6496	SO:0001819	synonymous_variant	91775							g.chr3:101520807C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.822C>T	3.37:g.101520807C>T						NXPE3_ENST00000273347.5_Silent_p.T274T|NXPE3_ENST00000477909.1_Silent_p.T274T|NXPE3_ENST00000491511.1_Silent_p.T274T	p.T274T							2	1019	+								A8K0X4|D3DN53|Q7Z2S8	Silent	SNP	ENST00000491511.2	37	c.822C>T	CCDS2945.1																																																																																				0.468	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		110	509	0	0	0	1	0	110	509				
UXS1	80146	broad.mit.edu	37	2	106739525	106739525	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106739525A>G	ENST00000409501.3	-	9	702	c.645T>C	c.(643-645)agT>agC	p.S215S	UXS1_ENST00000428048.2_Silent_p.S59S|UXS1_ENST00000540130.1_Silent_p.S158S|UXS1_ENST00000283148.7_Silent_p.S220S|UXS1_ENST00000409032.1_Silent_p.S47S			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	215					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTAATCCTCACTTTGAGGGT	0.453																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(658-660)agT>agC		UDP-glucuronate decarboxylase 1							121.0	119.0	120.0					2																	106739525		1939	4131	6070	SO:0001819	synonymous_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106739525A>G	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.645T>C	2.37:g.106739525A>G						UXS1_ENST00000540130.1_Silent_p.S158S|UXS1_ENST00000428048.2_Silent_p.S59S|UXS1_ENST00000409501.3_Silent_p.S215S|UXS1_ENST00000409032.1_Silent_p.S47S	p.S220S	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			9	757	-			215					Q8NBX3|Q9H5C2	Silent	SNP	ENST00000409501.3	37	c.660T>C	CCDS46378.1																																																																																				0.453	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		73	339	0	0	0	1	0	73	339				
USP49	25862	broad.mit.edu	37	6	41774276	41774276	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774276C>T	ENST00000394253.3	-	3	775	c.446G>A	c.(445-447)cGc>cAc	p.R149H	USP49_ENST00000373010.1_Missense_Mutation_p.R149H|USP49_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000373009.3_Missense_Mutation_p.R149H|USP49_ENST00000297229.2_Missense_Mutation_p.R149H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	149					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCAGCAGGCGCTGACGCCG	0.701																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(445-447)cGc>cAc		ubiquitin specific peptidase 49							11.0	13.0	12.0					6																	41774276		2185	4272	6457	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774276C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.446G>A	6.37:g.41774276C>T	ENSP00000377797:p.Arg149His					USP49_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000373010.1_Missense_Mutation_p.R149H|USP49_ENST00000297229.2_Missense_Mutation_p.R149H|USP49_ENST00000373009.3_Missense_Mutation_p.R149H	p.R149H			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	775	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		149					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.446G>A		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292763	0.23564	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06687	3.76;3.27;3.76;3.54;3.54	4.46	4.46	0.54185	.	0.404141	0.27896	N	0.017420	T	0.01523	0.0049	N	0.08118	0	0.33826	D	0.629658	B	0.22983	0.078	B	0.23275	0.045	T	0.47598	-0.9105	10	0.14656	T	0.56	-16.6087	11.6726	0.51411	0.0:0.671:0.329:0.0	.	149	Q70CQ1-2	.	H	149	ENSP00000377797:R149H;ENSP00000362101:R149H;ENSP00000362100:R149H;ENSP00000362097:R149H;ENSP00000297229:R149H	ENSP00000297229:R149H	R	-	2	0	USP49	41882254	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.582000	0.46085	2.288000	0.76882	0.655000	0.94253	CGC		0.701	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		25	138	0	0	0	1	0	25	138				
NDUFAF7	55471	broad.mit.edu	37	2	37464951	37464951	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37464951G>T	ENST00000002125.4	+	4	389	c.349G>T	c.(349-351)Gct>Tct	p.A117S	NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.A90S	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	117					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										AAAAAGCACAGCTTTCCAGCT	0.388																																						ENST00000002125.4																			0											c.(349-351)Gct>Tct		NADH dehydrogenase (ubiquinone) complex I, assembly factor 7							53.0	63.0	59.0					2																	37464951		2203	4300	6503	SO:0001583	missense	55471							g.chr2:37464951G>T		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.349G>T	2.37:g.37464951G>T	ENSP00000002125:p.Ala117Ser					NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Missense_Mutation_p.A90S	p.A117S	NM_144736.4	NP_653337.1					4	389	+								Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.349G>T	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951916	0.34471	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000416653;ENST00000439218;ENST00000432075	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.84	1.6	0.23607	.	0.402717	0.28156	N	0.016390	T	0.52709	0.1751	N	0.20357	0.565	0.09310	N	1	B;B;B;B	0.20459	0.005;0.045;0.037;0.005	B;B;B;B	0.24848	0.012;0.056;0.033;0.019	T	0.29243	-1.0018	10	0.18276	T	0.48	-11.7246	5.0397	0.14452	0.4036:0.0:0.4579:0.1386	.	90;117;90;117	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	S	117;90;38;75;75;75	ENSP00000002125:A117S;ENSP00000337431:A90S;ENSP00000399207:A38S;ENSP00000410181:A75S;ENSP00000394436:A75S;ENSP00000402959:A75S	ENSP00000002125:A117S	A	+	1	0	C2orf56	37318455	0.016000	0.18221	0.867000	0.34043	0.922000	0.55478	0.585000	0.23879	0.389000	0.25086	0.655000	0.94253	GCT		0.388	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		45	213	1	0	5.22555e-25	1	5.98653e-25	45	213				
BACH1	571	broad.mit.edu	37	21	30698591	30698591	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30698591A>G	ENST00000399921.1	+	3	689	c.446A>G	c.(445-447)cAc>cGc	p.H149R	BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTTTCATCACACTGTCAGAAA	0.373																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(445-447)cAc>cGc		BTB and CNC homology 1, basic leucine zipper transcription factor 1							73.0	75.0	75.0					21																	30698591		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30698591A>G	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.446A>G	21.37:g.30698591A>G	ENSP00000382805:p.His149Arg					BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	p.H149R	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			3	689	+			149					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.446A>G	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	A	4.953	0.177102	0.09443	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.76316	-0.54;-0.54;-0.87;-0.87;-1.01	5.45	1.81	0.25067	.	0.459050	0.23900	N	0.043458	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29274	-1.0017	10	0.22109	T	0.4	-4.9071	1.8311	0.03130	0.4783:0.1338:0.2672:0.1208	.	149	O14867	BACH1_HUMAN	R	149	ENSP00000286800:H149R;ENSP00000382805:H149R;ENSP00000400576:H149R;ENSP00000408605:H149R;ENSP00000392202:H149R	ENSP00000286800:H149R	H	+	2	0	BACH1	29620462	0.006000	0.16342	0.545000	0.28153	0.716000	0.41182	0.999000	0.29757	0.136000	0.18733	0.482000	0.46254	CAC		0.373	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		35	333	0	0	0	1	0	35	333				
TLR9	54106	broad.mit.edu	37	3	52257562	52257562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52257562C>T	ENST00000360658.2	-	2	1403	c.770G>A	c.(769-771)cGc>cAc	p.R257H	TLR9_ENST00000494383.1_Silent_p.P410P|TLR9_ENST00000597542.1_Missense_Mutation_p.R281H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	257					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GTGGTCGCAGCGGCGGCAATT	0.617																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(841-843)cGc>cAc		toll-like receptor 9	Chloroquine(DB00608)						41.0	34.0	36.0					3																	52257562		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257562C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.770G>A	3.37:g.52257562C>T	ENSP00000353874:p.Arg257His					TLR9_ENST00000494383.1_Silent_p.P410P|TLR9_ENST00000360658.2_Missense_Mutation_p.R257H	p.R281H			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1799	-			257					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.842G>A	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622972	0.87460	.	.	ENSG00000239732	ENST00000360658	T	0.19105	2.17	5.38	5.38	0.77491	.	0.000000	0.32548	N	0.005945	T	0.52273	0.1724	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58999	-0.7536	10	0.87932	D	0	.	16.6158	0.84915	0.0:1.0:0.0:0.0	.	354;257	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	257	ENSP00000353874:R257H	ENSP00000353874:R257H	R	-	2	0	TLR9	52232602	1.000000	0.71417	0.990000	0.47175	0.424000	0.31475	7.427000	0.80284	2.521000	0.84997	0.655000	0.94253	CGC		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			26	142	0	0	0	1	0	26	142				
DDX4	54514	broad.mit.edu	37	5	55059041	55059041	+	Missense_Mutation	SNP	A	A	C	rs202041209	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55059041A>C	ENST00000505374.1	+	5	336	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|DDX4_ENST00000354991.5_Missense_Mutation_p.M82L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	82	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACATCCACAATGGGTGGTTT	0.318																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(244-246)Atg>Ctg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							134.0	132.0	133.0					5																	55059041		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55059041A>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.244A>C	5.37:g.55059041A>C	ENSP00000424838:p.Met82Leu					DDX4_ENST00000354991.5_Missense_Mutation_p.M82L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|DDX4_ENST00000508580.1_3'UTR	p.M82L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			5	336	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	82			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.244A>C	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	3.374	-0.127770	0.06753	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T;T	0.43294	2.08;2.06;2.1;3.58;0.98;0.97;2.08;0.95	4.99	-7.6	0.01303	.	0.763357	0.11712	N	0.536851	T	0.25269	0.0614	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.17832	T	0.49	-15.6323	11.6015	0.51006	0.7513:0.1138:0.1349:0.0	.	82;82;82	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	L	82;82;82;82;56;82;82;82;82	ENSP00000334167:M82L;ENSP00000425359:M82L;ENSP00000424838:M82L;ENSP00000427167:M82L;ENSP00000424779:M56L;ENSP00000424112:M82L;ENSP00000347087:M82L;ENSP00000427522:M82L	ENSP00000334167:M82L	M	+	1	0	DDX4	55094798	0.001000	0.12720	0.005000	0.12908	0.082000	0.17680	-1.309000	0.02728	-1.647000	0.01511	-0.467000	0.05162	ATG		0.318	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		59	288	0	0	0	1	0	59	288				
PPRC1	23082	broad.mit.edu	37	10	103908144	103908144	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908144C>A	ENST00000278070.2	+	10	4455	c.4416C>A	c.(4414-4416)tcC>tcA	p.S1472S	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Silent_p.S1208S|PPRC1_ENST00000370012.1_Silent_p.S439S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1472	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTGTAGTTCCTCTGGACGTT	0.527																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4414-4416)tcC>tcA		peroxisome proliferator-activated receptor gamma, coactivator-related 1							175.0	120.0	139.0					10																	103908144		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908144C>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4416C>A	10.37:g.103908144C>A						PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Silent_p.S439S|PPRC1_ENST00000413464.2_Silent_p.S1208S	p.S1472S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4455	+		Colorectal(252;0.122)	1472			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.4416C>A	CCDS7529.1																																																																																				0.527	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		12	421	1	0	6.40141e-05	1	6.5221e-05	12	421				
SORL1	6653	broad.mit.edu	37	11	121459973	121459973	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121459973G>T	ENST00000260197.7	+	29	4081	c.3952G>T	c.(3952-3954)Gat>Tat	p.D1318Y	SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1318					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTAGCCCAAGATCCTGAGTT	0.517																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3952-3954)Gat>Tat		sortilin-related receptor, L(DLR class) A repeats containing							457.0	381.0	407.0					11																	121459973		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121459973G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3952G>T	11.37:g.121459973G>T	ENSP00000260197:p.Asp1318Tyr					SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y|SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y	p.D1318Y	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	29	4081	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1318					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3952G>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038523	0.35989	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.91631	-2.88;-2.63;-2.27;-2.29	5.62	5.62	0.85841	.	0.395539	0.28448	N	0.015315	D	0.91147	0.7212	N	0.20574	0.59	0.80722	D	1	D	0.62365	0.991	P	0.53593	0.73	D	0.92346	0.5885	10	0.66056	D	0.02	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	1318	Q92673	SORL_HUMAN	Y	1318;262;164;228	ENSP00000260197:D1318Y;ENSP00000434634:D262Y;ENSP00000432131:D164Y;ENSP00000436447:D228Y	ENSP00000260197:D1318Y	D	+	1	0	SORL1	120965183	1.000000	0.71417	0.984000	0.44739	0.637000	0.38172	4.922000	0.63404	2.634000	0.89283	0.655000	0.94253	GAT		0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		92	1069	1	0	9.25274e-37	1	1.1089e-36	92	1069				
CLEC9A	283420	broad.mit.edu	37	12	10206926	10206926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10206926G>A	ENST00000355819.1	+	5	761	c.148G>A	c.(148-150)Gca>Aca	p.A50T		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	50					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ATTATTAACAGCATCCATTTT	0.323																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(148-150)Gca>Aca		C-type lectin domain family 9, member A							160.0	130.0	140.0					12																	10206926		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10206926G>A		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.148G>A	12.37:g.10206926G>A	ENSP00000348074:p.Ala50Thr						p.A50T	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			5	761	+			50					B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.148G>A	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920691	0.00498	.	.	ENSG00000197992	ENST00000355819	T	0.01313	5.02	3.89	-2.15	0.07102	.	0.672896	0.13056	N	0.417266	T	0.00440	0.0014	N	0.00399	-1.545	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44605	-0.9317	10	0.06365	T	0.9	.	7.9944	0.30258	0.4952:0.0:0.5048:0.0	.	50	Q6UXN8	CLC9A_HUMAN	T	50	ENSP00000348074:A50T	ENSP00000348074:A50T	A	+	1	0	CLEC9A	10098193	0.000000	0.05858	0.082000	0.20525	0.268000	0.26511	-0.467000	0.06664	-0.309000	0.08779	-0.423000	0.05987	GCA		0.323	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		30	179	0	0	0	1	0	30	179				
PRSS16	10279	broad.mit.edu	37	6	27219749	27219749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219749G>A	ENST00000230582.3	+	8	953	c.938G>A	c.(937-939)gGa>gAa	p.G313E	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	313					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCTCTGCGGACTTCTCCTC	0.687																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(937-939)gGa>gAa		protease, serine, 16 (thymus)							8.0	9.0	9.0					6																	27219749		2174	4266	6440	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27219749G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.938G>A	6.37:g.27219749G>A	ENSP00000230582:p.Gly313Glu					PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	p.G313E	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			8	953	+			313					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.938G>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661647	0.47572	.	.	ENSG00000112812	ENST00000230582	T	0.12774	2.65	3.18	3.18	0.36537	.	0.841051	0.10596	N	0.656227	T	0.03178	0.0093	L	0.29908	0.895	0.35506	D	0.800225	B	0.19445	0.036	B	0.18871	0.023	T	0.26258	-1.0108	10	0.07644	T	0.81	-0.0554	10.0977	0.42486	0.0:0.0:1.0:0.0	.	313	Q9NQE7	TSSP_HUMAN	E	313	ENSP00000230582:G313E	ENSP00000230582:G313E	G	+	2	0	PRSS16	27327728	0.995000	0.38212	0.776000	0.31678	0.930000	0.56654	2.556000	0.45862	2.067000	0.61834	0.563000	0.77884	GGA		0.687	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			19	62	0	0	0	1	0	19	62				
PCNT	5116	broad.mit.edu	37	21	47766794	47766794	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47766794C>T	ENST00000359568.5	+	5	965	c.858C>T	c.(856-858)agC>agT	p.S286S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	286	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCTCAACAGCCGGCGTGCCC	0.642																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(856-858)agC>agT		pericentrin							30.0	26.0	27.0					21																	47766794		2197	4298	6495	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47766794C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.858C>T	21.37:g.47766794C>T						PCNT_ENST00000480896.1_3'UTR	p.S286S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			5	965	+	Breast(49;0.112)		286			Glu-rich.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.858C>T	CCDS33592.1																																																																																				0.642	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		16	53	0	0	0	1	0	16	53				
NOTCH3	4854	broad.mit.edu	37	19	15284889	15284889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15284889C>T	ENST00000263388.2	-	25	4801	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1576					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCGATCACCTCGGGGGCCAGC	0.637																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(4726-4728)Gag>Aag		notch 3							18.0	25.0	23.0					19																	15284889		2171	4259	6430	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15284889C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4726G>A	19.37:g.15284889C>T	ENSP00000263388:p.Glu1576Lys						p.E1576K	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		25	4801	-			1576					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.4726G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192522	0.58017	.	.	ENSG00000074181	ENST00000263388	T	0.33654	1.4	4.68	4.68	0.58851	Notch, NODP domain (1);	.	.	.	.	T	0.35595	0.0937	L	0.53249	1.67	0.51012	D	0.999904	P	0.42039	0.769	B	0.40199	0.322	T	0.12967	-1.0527	9	0.21540	T	0.41	.	16.3591	0.83246	0.0:1.0:0.0:0.0	.	1576	Q9UM47	NOTC3_HUMAN	K	1576	ENSP00000263388:E1576K	ENSP00000263388:E1576K	E	-	1	0	NOTCH3	15145889	0.999000	0.42202	0.909000	0.35828	0.350000	0.29205	5.378000	0.66190	2.156000	0.67533	0.491000	0.48974	GAG		0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		54	201	0	0	0	1	0	54	201				
TRMT5	57570	broad.mit.edu	37	14	61442419	61442419	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61442419C>T	ENST00000261249.6	-	4	1602	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	RNU6-398P_ENST00000384143.1_RNA|RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCTGCATGGCTGCCCATCTA	0.458																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(1216-1218)caG>caA		tRNA methyltransferase 5							92.0	92.0	92.0					14																	61442419		2203	4300	6503	SO:0001819	synonymous_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61442419C>T	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1218G>A	14.37:g.61442419C>T						RP11-193F5.1_ENST00000553946.1_RNA	p.Q406Q	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	4	1602	-			406						Silent	SNP	ENST00000261249.6	37	c.1218G>A	CCDS32092.1																																																																																				0.458	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		65	277	0	0	0	1	0	65	277				
DPP9	91039	broad.mit.edu	37	19	4690947	4690947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4690947C>A	ENST00000598800.1	-	15	1957	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N	DPP9_ENST00000594671.1_Missense_Mutation_p.K484N|DPP9_ENST00000262960.9_Missense_Mutation_p.K513N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	484						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAATCTCTTCCTTAATGGGGC	0.557																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1537-1539)aaG>aaT		dipeptidyl-peptidase 9							60.0	62.0	61.0					19																	4690947		1963	4154	6117	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4690947C>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1452G>T	19.37:g.4690947C>A	ENSP00000469603:p.Lys484Asn					DPP9_ENST00000594671.1_Missense_Mutation_p.K484N|DPP9_ENST00000598800.1_Missense_Mutation_p.K484N	p.K513N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	14	1816	-		Hepatocellular(1079;0.137)	484					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.1539G>T		.	.	.	.	.	.	.	.	.	.	C	6.528	0.465689	0.12402	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30448	1.53	4.39	2.15	0.27550	.	0.166608	0.51477	D	0.000082	T	0.27278	0.0669	M	0.65975	2.015	0.52501	D	0.99995	B	0.20459	0.045	B	0.26614	0.071	T	0.07520	-1.0768	10	0.30078	T	0.28	-23.8297	4.6523	0.12601	0.0:0.6645:0.0:0.3355	.	513	Q1ZZB8	.	N	592;454;513	ENSP00000262960:K513N	ENSP00000262960:K513N	K	-	3	2	DPP9	4641947	0.999000	0.42202	1.000000	0.80357	0.285000	0.27093	0.716000	0.25836	1.086000	0.41228	-0.263000	0.10527	AAG		0.557	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			15	64	1	0	1.5739e-10	1	1.67034e-10	15	64				
C9orf114	51490	broad.mit.edu	37	9	131591055	131591055	+	Missense_Mutation	SNP	C	C	T	rs138669669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591055C>T	ENST00000361256.5	-	3	207	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	56							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CTCTTCCAGGCGCTTTGCCTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18104	0.001		0.0	False		,,,				2504	0.0					ENST00000361256.5																			0				kidney(2)|large_intestine(4)|ovary(1)	7						c.(166-168)cGc>cAc		chromosome 9 open reading frame 114							102.0	105.0	104.0					9																	131591055		2203	4300	6503	SO:0001583	missense	51490							g.chr9:131591055C>T		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.167G>A	9.37:g.131591055C>T	ENSP00000354812:p.Arg56His						p.R56H	NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN			3	207	-			56					Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	c.167G>A	CCDS6913.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.18	2.756269	0.49362	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.23754	1.89	4.69	-4.72	0.03269	.	0.936047	0.09163	N	0.839890	T	0.16769	0.0403	L	0.43152	1.355	0.22666	N	0.998873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31308	-0.9948	10	0.45353	T	0.12	0.5691	4.5371	0.12038	0.5098:0.1352:0.0:0.355	.	56;56	E7ESY7;Q5T280	.;CI114_HUMAN	H	56	ENSP00000354812:R56H	ENSP00000354812:R56H	R	-	2	0	C9orf114	130630876	0.014000	0.17966	0.699000	0.30290	0.735000	0.41995	-0.488000	0.06497	-0.778000	0.04566	0.561000	0.74099	CGC		0.562	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		125	650	0	0	0	1	0	125	650				
DICER1	23405	broad.mit.edu	37	14	95560313	95560313	+	Missense_Mutation	SNP	T	T	C	rs144259142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95560313T>C	ENST00000526495.1	-	26	5567	c.5276A>G	c.(5275-5277)aAa>aGa	p.K1759R	DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000556045.1_Missense_Mutation_p.K657R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000527416.2_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1759	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGAGACAGCTTTGAAGTACTT	0.493			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5275-5277)aAa>aGa		dicer 1, ribonuclease type III		T	ARG/LYS,ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	145.0	135.0	138.0		5276,5276,5276	5.3	0.7	14	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DICER1	NM_001195573.1,NM_030621.3,NM_177438.2	26,26,26	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	1759/1830,1759/1923,1759/1923	95560313	2,13004	2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560313T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5276A>G	14.37:g.95560313T>C	ENSP00000437256:p.Lys1759Arg					DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000556045.1_Missense_Mutation_p.K657R	p.K1759R			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5567	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1759			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5276A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893633	0.52121	2.27E-4	1.16E-4	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.29	5.29	0.74685	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	N	0.04994	-0.135	0.80722	D	1	B;D	0.76494	0.301;0.999	B;D	0.83275	0.144;0.996	T	0.65479	-0.6158	10	0.02654	T	1	-26.0429	15.2459	0.73507	0.0:0.0:0.0:1.0	.	657;1759	B3KRG4;Q9UPY3	.;DICER_HUMAN	R	1759;1759;1759;1759;657;1759	ENSP00000343745:K1759R;ENSP00000437256:K1759R;ENSP00000376783:K1759R;ENSP00000435681:K1759R;ENSP00000451041:K657R;ENSP00000444719:K1759R	ENSP00000343745:K1759R	K	-	2	0	DICER1	94630066	1.000000	0.71417	0.738000	0.30950	0.984000	0.73092	7.630000	0.83225	1.998000	0.58463	0.533000	0.62120	AAA		0.493	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			116	483	0	0	0	1	0	116	483				
MUC16	94025	broad.mit.edu	37	19	8973992	8973992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8973992G>T	ENST00000397910.4	-	76	42882	c.42679C>A	c.(42679-42681)Ctg>Atg	p.L14227M	MUC16_ENST00000380951.5_Missense_Mutation_p.L868M|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14290				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCCTCAGCAGGGTGATG	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42679-42681)Ctg>Atg		mucin 16, cell surface associated							106.0	109.0	108.0					19																	8973992		1982	4158	6140	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8973992G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42679C>A	19.37:g.8973992G>T	ENSP00000381008:p.Leu14227Met					MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.L868M	p.L14227M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			76	42882	-			14290	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42679C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.859|8.859	0.946373|0.946373	0.18356|0.18356	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32988	.|1.43;1.43	4.57|4.57	0.89|0.89	0.19218|0.19218	.|SEA (1);	.|1.613830	.|0.04579	.|N	.|0.394628	.|T	.|0.57533	.|0.2060	M|M	0.85542|0.85542	2.76|2.76	.|.	.|.	.|.	.|B;D	.|0.58970	.|0.245;0.984	.|B;D	.|0.73708	.|0.126;0.981	.|T	.|0.40403	.|-0.9565	.|9	.|0.34782	.|T	.|0.22	.|.	7.68|7.68	0.28507|0.28507	0.0:0.3544:0.4759:0.1697|0.0:0.3544:0.4759:0.1697	.|.	.|21872;14227	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	X|M	1049|14227;868	.|ENSP00000381008:L14227M;ENSP00000370338:L868M	.|ENSP00000370338:L868M	C|L	-|-	3|1	2|2	MUC16|MUC16	8834992|8834992	0.000000|0.000000	0.05858|0.05858	0.272000|0.272000	0.24630|0.24630	0.054000|0.054000	0.15201|0.15201	-0.019000|-0.019000	0.12546|0.12546	0.190000|0.190000	0.20209|0.20209	0.609000|0.609000	0.83330|0.83330	TGC|CTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	57	1	0	3.27435e-08	1	3.41456e-08	15	57				
ALDH7A1	501	broad.mit.edu	37	5	125889982	125889982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125889982G>A	ENST00000409134.3	-	13	1416	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	ALDH7A1_ENST00000553117.1_Intron|ALDH7A1_ENST00000447989.2_Intron|RNU6-963P_ENST00000363477.1_RNA	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	399					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CCCTTACCTTGCCCCCATAGA	0.493																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1195-1197)ggC>ggT		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						213.0	171.0	185.0					5																	125889982		2203	4300	6503	SO:0001819	synonymous_variant	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125889982G>A	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1197C>T	5.37:g.125889982G>A						ALDH7A1_ENST00000553117.1_Intron|ALDH7A1_ENST00000447989.2_Intron	p.G399G	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	13	1416	-		all_cancers(142;0.24)|Prostate(80;0.081)	399					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	37	c.1197C>T	CCDS4137.2																																																																																				0.493	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		12	652	0	0	0	1	0	12	652				
ZG16B	124220	broad.mit.edu	37	16	2880318	2880318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2880318G>T	ENST00000382280.3	+	1	149	c.70G>T	c.(70-72)Gtc>Ttc	p.V24F	ZG16B_ENST00000572863.1_5'Flank	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	24					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CAGACGCCCAGTCACAGGCGA	0.652																																						ENST00000382280.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(70-72)Gtc>Ttc		zymogen granule protein 16B							38.0	48.0	45.0					16																	2880318		1955	4128	6083	SO:0001583	missense	124220					extracellular region	sugar binding	g.chr16:2880318G>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.70G>T	16.37:g.2880318G>T	ENSP00000371715:p.Val24Phe						p.V24F	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN			1	149	+			24					A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	c.70G>T	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	g	8.265	0.812131	0.16537	.	.	ENSG00000162078	ENST00000382280	T	0.38887	1.11	2.93	-5.85	0.02311	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999999	P	0.42908	0.793	B	0.40134	0.32	T	0.23332	-1.0191	9	0.54805	T	0.06	.	5.8272	0.18560	0.318:0.0:0.5352:0.1467	.	24	Q96DA0	ZG16B_HUMAN	F	24	ENSP00000371715:V24F	ENSP00000371715:V24F	V	+	1	0	ZG16B	2820319	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.451000	0.21779	-1.582000	0.01640	-0.360000	0.07572	GTC		0.652	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		6	107	1	0	3.59834e-05	1	3.67436e-05	6	107				
NFAT5	10725	broad.mit.edu	37	16	69725929	69725929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725929C>T	ENST00000354436.2	+	12	2465	c.2147C>T	c.(2146-2148)aCt>aTt	p.T716I	NFAT5_ENST00000349945.1_Missense_Mutation_p.T640I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	716					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAAGAGAAACTCAGTCTAGA	0.453																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1918-1920)aCt>aTt		nuclear factor of activated T-cells 5, tonicity-responsive							117.0	109.0	112.0					16																	69725929		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69725929C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2147C>T	16.37:g.69725929C>T	ENSP00000346420:p.Thr716Ile					NFAT5_ENST00000354436.2_Missense_Mutation_p.T716I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I	p.T640I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3471	+			716					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1919C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537703	0.45176	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.08	5.12	0.69794	.	0.847763	0.11135	N	0.595942	T	0.31167	0.0788	N	0.14661	0.345	0.24227	N	0.995411	B;B;B	0.18166	0.016;0.016;0.026	B;B;B	0.17979	0.009;0.009;0.02	T	0.20907	-1.0261	10	0.32370	T	0.25	-1.521	16.105	0.81213	0.0:0.6288:0.3712:0.0	.	733;716;734	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	734;733;640;716;640	ENSP00000396538:T734I;ENSP00000338806:T640I;ENSP00000346420:T716I;ENSP00000377343:T640I	ENSP00000338806:T640I	T	+	2	0	NFAT5	68283430	0.050000	0.20438	0.968000	0.41197	0.967000	0.64934	1.052000	0.30429	1.556000	0.49512	0.655000	0.94253	ACT		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		66	303	0	0	0	1	0	66	303				
TCF20	6942	broad.mit.edu	37	22	42605786	42605786	+	Silent	SNP	G	G	T	rs578222327	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42605786G>T	ENST00000359486.3	-	1	5662	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	TCF20_ENST00000404876.1_Silent_p.I143I|TCF20_ENST00000335626.4_Silent_p.I1842I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1842					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTAGTTCAGGGATTTGTAACT	0.517																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5524-5526)atC>atA		transcription factor 20 (AR1)							143.0	145.0	145.0					22																	42605786		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605786G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5526C>A	22.37:g.42605786G>T						TCF20_ENST00000335626.4_Silent_p.I1842I|TCF20_ENST00000404876.1_Silent_p.I143I	p.I1842I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5662	-			1842					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.5526C>A	CCDS14033.1																																																																																				0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		34	855	1	0	6.50621e-10	1	6.87419e-10	34	855				
HRG	3273	broad.mit.edu	37	3	186395415	186395415	+	Nonsense_Mutation	SNP	C	C	T	rs370685538		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186395415C>T	ENST00000232003.4	+	7	1401	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	441	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTAAGAAGGCGAGGCCCAGG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.001					ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1321-1323)Cga>Tga		histidine-rich glycoprotein		C	stop/ARG	0,4406		0,0,2203	69.0	62.0	64.0		1321	2.4	0.0	3		64	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HRG	NM_000412.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		441/526	186395415	1,13005	2203	4300	6503	SO:0001587	stop_gained	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395415C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1321C>T	3.37:g.186395415C>T	ENSP00000232003:p.Arg441*						p.R441*	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1401	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		441			His/Pro-rich (HRR).		B9EK35|D3DNU7	Nonsense_Mutation	SNP	ENST00000232003.4	37	c.1321C>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676245	0.47886	0.0	1.16E-4	ENSG00000113905	ENST00000232003	.	.	.	4.88	2.37	0.29283	.	0.270380	0.26590	N	0.023525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8229	8.8476	0.35179	0.6:0.4:0.0:0.0	.	.	.	.	X	441	.	ENSP00000232003:R441X	R	+	1	2	HRG	187878109	0.002000	0.14202	0.035000	0.18076	0.002000	0.02628	0.913000	0.28611	1.016000	0.39470	-0.410000	0.06199	CGA		0.552	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		77	284	0	0	0	1	0	77	284				
DST	667	broad.mit.edu	37	6	56498955	56498955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56498955C>T	ENST00000361203.3	-	23	2970	c.2963G>A	c.(2962-2964)aGa>aAa	p.R988K	DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000312431.6_Missense_Mutation_p.R988K|DST_ENST00000370769.4_Missense_Mutation_p.R988K|DST_ENST00000370754.5_Missense_Mutation_p.R1166K|DST_ENST00000518935.1_Missense_Mutation_p.R662K			Q03001	DYST_HUMAN	dystonin	988					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTCGAATTCTATCAATTTC	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3496-3498)aGa>aAa		dystonin							186.0	168.0	174.0					6																	56498955		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56498955C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2963G>A	6.37:g.56498955C>T	ENSP00000354508:p.Arg988Lys					DST_ENST00000370769.4_Missense_Mutation_p.R988K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000312431.6_Missense_Mutation_p.R988K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000361203.3_Missense_Mutation_p.R988K|DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000518935.1_Missense_Mutation_p.R662K	p.R1166K			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		26	3496	-	Lung NSC(77;0.103)		988					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3497G>A		.	.	.	.	.	.	.	.	.	.	C	11.37	1.617451	0.28801	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.48	3.66	0.41972	.	0.611371	0.14323	N	0.326849	T	0.24044	0.0582	N	0.04508	-0.205	0.25078	N	0.990944	B;B;B;B;B;B;B;B	0.27951	0.0;0.001;0.0;0.088;0.115;0.001;0.0;0.195	B;B;B;B;B;B;B;B	0.30943	0.0;0.003;0.0;0.028;0.086;0.007;0.0;0.122	T	0.12682	-1.0538	9	0.05959	T	0.93	.	5.762	0.18205	0.1075:0.5844:0.2226:0.0855	.	988;988;1166;662;662;662;988;662	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	662;1166;988;988;662;988;988;988;662;1028;662;662	ENSP00000244364:R662K;ENSP00000359790:R1166K;ENSP00000359805:R988K;ENSP00000400883:R988K;ENSP00000393645:R662K;ENSP00000307959:R988K;ENSP00000359824:R988K;ENSP00000354508:R988K;ENSP00000404924:R662K;ENSP00000431030:R1028K;ENSP00000359801:R662K;ENSP00000431003:R662K	ENSP00000244364:R662K	R	-	2	0	DST	56606914	0.933000	0.31639	0.996000	0.52242	0.992000	0.81027	2.772000	0.47678	1.327000	0.45338	0.585000	0.79938	AGA		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		93	438	0	0	0	1	0	93	438				
LZTS2	84445	broad.mit.edu	37	10	102766922	102766922	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766922C>A	ENST00000370220.1	+	4	5070	c.2007C>A	c.(2005-2007)atC>atA	p.I669I	LZTS2_ENST00000370223.3_Silent_p.I669I					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTACTGAGATCTAGGGCCCTC	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2005-2007)atC>atA		leucine zipper, putative tumor suppressor 2							14.0	17.0	16.0					10																	102766922		2091	4088	6179	SO:0001819	synonymous_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102766922C>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.2007C>A	10.37:g.102766922C>A						LZTS2_ENST00000370223.3_Silent_p.I669I	p.I669I			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	4	5070	+			669			Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).			Silent	SNP	ENST00000370220.1	37	c.2007C>A	CCDS7507.1																																																																																				0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		10	98	1	0	6.40141e-05	1	6.5221e-05	10	98				
MN1	4330	broad.mit.edu	37	22	28196482	28196482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196482C>T	ENST00000302326.4	-	1	1004	c.50G>A	c.(49-51)gGc>gAc	p.G17D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	17					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CTCGCCCTGGCCAGCGTTCCT	0.622			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(49-51)gGc>gAc		meningioma (disrupted in balanced translocation) 1							56.0	61.0	59.0					22																	28196482		2001	4167	6168	SO:0001583	missense	4330						binding	g.chr22:28196482C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.50G>A	22.37:g.28196482C>T	ENSP00000304956:p.Gly17Asp						p.G17D	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1004	-			17					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.50G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889768	0.72524	.	.	ENSG00000169184	ENST00000302326	T	0.72051	-0.62	4.6	4.6	0.57074	.	0.060889	0.64402	D	0.000005	T	0.74959	0.3785	L	0.27053	0.805	0.53005	D	0.99996	D	0.67145	0.996	D	0.67725	0.953	T	0.79220	-0.1893	10	0.87932	D	0	-16.2213	16.3356	0.83059	0.0:1.0:0.0:0.0	.	17	Q10571	MN1_HUMAN	D	17	ENSP00000304956:G17D	ENSP00000304956:G17D	G	-	2	0	MN1	26526482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.894000	0.75655	2.249000	0.74217	0.462000	0.41574	GGC		0.622	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		10	287	0	0	0	1	0	10	287				
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178408655C>A	ENST00000462775.1	+	4	454	c.329C>A	c.(328-330)cCt>cAt	p.P110H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000448150.3_Missense_Mutation_p.P240H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(718-720)cCt>cAt		RAS protein activator like 2							143.0	130.0	135.0					1																	178408655		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178408655C>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.329C>A	1.37:g.178408655C>A	ENSP00000420558:p.Pro110His					RASAL2_ENST00000462775.1_Missense_Mutation_p.P110H|RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H	p.P240H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			6	1537	+			110			C2.|Poly-Lys.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.719C>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345162	0.41498	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;D;D	0.93366	-3.21;-3.21;-3.21	6.17	6.17	0.99709	Pleckstrin homology domain (1);	0.247592	0.38164	N	0.001796	D	0.88138	0.6356	N	0.22421	0.69	0.28191	N	0.927767	B;P	0.44946	0.375;0.846	B;B	0.41202	0.139;0.35	D	0.85085	0.0948	10	0.72032	D	0.01	.	11.4783	0.50310	0.2266:0.6573:0.116:0.0	.	110;258	Q9UJF2;F8W755	NGAP_HUMAN;.	H	240;258;110	ENSP00000407768:P240H;ENSP00000356621:P258H;ENSP00000420558:P110H	ENSP00000356621:P258H	P	+	2	0	RASAL2	176675278	0.996000	0.38824	0.974000	0.42286	0.684000	0.39900	3.478000	0.53158	2.941000	0.99782	0.655000	0.94253	CCT		0.433	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		43	362	1	0	2.29192e-23	1	2.60423e-23	43	362				
ZNF385D	79750	broad.mit.edu	37	3	21478500	21478500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21478500G>T	ENST00000281523.2	-	5	1153	c.635C>A	c.(634-636)gCt>gAt	p.A212D	ZNF385D_ENST00000494118.1_5'Flank	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	212						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAGTTGACAGCAACCTTGCA	0.473																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(634-636)gCt>gAt		zinc finger protein 385D							163.0	133.0	143.0					3																	21478500		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478500G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.635C>A	3.37:g.21478500G>T	ENSP00000281523:p.Ala212Asp						p.A212D	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	1153	-			212						Missense_Mutation	SNP	ENST00000281523.2	37	c.635C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215996	0.95104	.	.	ENSG00000151789	ENST00000281523	T	0.21543	2.0	6.09	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.70595	2.14	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.24584	-1.0156	10	0.54805	T	0.06	-9.7885	17.5408	0.87846	0.0:0.1232:0.8768:0.0	.	212	Q9H6B1	Z385D_HUMAN	D	212	ENSP00000281523:A212D	ENSP00000281523:A212D	A	-	2	0	ZNF385D	21453504	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.769000	0.98969	2.891000	0.99171	0.655000	0.94253	GCT		0.473	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		73	411	1	0	5.68823e-23	1	6.45521e-23	73	411				
COL12A1	1303	broad.mit.edu	37	6	75839891	75839891	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75839891C>T	ENST00000322507.8	-	37	6435	c.6126G>A	c.(6124-6126)tcG>tcA	p.S2042S	COL12A1_ENST00000483888.2_Silent_p.S2042S|COL12A1_ENST00000416123.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2042	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCAGGCTACCGAGAGGCTAT	0.438																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(6124-6126)tcG>tcA		collagen, type XII, alpha 1							126.0	124.0	125.0					6																	75839891		1896	4122	6018	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75839891C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6126G>A	6.37:g.75839891C>T						COL12A1_ENST00000416123.2_Silent_p.S2042S|COL12A1_ENST00000483888.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S	p.S2042S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			37	6435	-			2042			Fibronectin type-III 16.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.6126G>A	CCDS43482.1																																																																																				0.438	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		57	275	0	0	0	1	0	57	275				
ROS1	6098	broad.mit.edu	37	6	117709106	117709106	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117709106T>G	ENST00000368508.3	-	13	2049	c.1851A>C	c.(1849-1851)caA>caC	p.Q617H	ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	617	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGGAGGGTCTTGGGTGGATA	0.443			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1849-1851)caA>caC		c-ros oncogene 1 , receptor tyrosine kinase							150.0	148.0	149.0					6																	117709106		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117709106T>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1851A>C	6.37:g.117709106T>G	ENSP00000357494:p.Gln617His					ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H|GOPC_ENST00000467125.1_Intron	p.Q617H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	13	2049	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	617			Fibronectin type-III 3.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1851A>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932830	0.52866	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.84800	-1.9;1.08	5.39	0.293	0.15742	.	0.190179	0.37393	N	0.002110	T	0.75803	0.3899	L	0.47716	1.5	0.22903	N	0.998584	P	0.45348	0.856	P	0.51582	0.674	T	0.71374	-0.4612	10	0.66056	D	0.02	.	9.4166	0.38525	0.0:0.3978:0.0:0.6022	.	617	P08922	ROS1_HUMAN	H	617;612	ENSP00000357494:Q617H;ENSP00000357493:Q612H	ENSP00000357493:Q612H	Q	-	3	2	ROS1	117815799	0.015000	0.18098	0.207000	0.23584	0.900000	0.52787	-0.068000	0.11561	-0.094000	0.12374	0.459000	0.35465	CAA		0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			152	657	0	0	0	1	0	152	657				
QKI	9444	broad.mit.edu	37	6	163836318	163836318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163836318G>A	ENST00000361752.3	+	1	644	c.93G>A	c.(91-93)ctG>ctA	p.L31L	QKI_ENST00000453779.2_Silent_p.L31L|QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000424802.3_Silent_p.L31L|CAHM_ENST00000604200.1_lincRNA|QKI_ENST00000361195.2_Silent_p.L31L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	31					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L31L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGAGCAGCCTGCCCAACTTCT	0.642																																						ENST00000361752.3																			1	Substitution - coding silent(1)	p.L31L(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(91-93)ctG>ctA		QKI, KH domain containing, RNA binding							93.0	91.0	92.0					6																	163836318		2203	4300	6503	SO:0001819	synonymous_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163836318G>A	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.93G>A	6.37:g.163836318G>A						QKI_ENST00000424802.3_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000361195.2_Silent_p.L31L|QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000453779.2_Silent_p.L31L	p.L31L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	1	644	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	31					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	c.93G>A	CCDS5285.1																																																																																				0.642	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		61	297	0	0	0	1	0	61	297				
ALDH3B1	221	broad.mit.edu	37	11	67790162	67790162	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67790162A>C	ENST00000539229.1	+	10	1159	c.1043A>C	c.(1042-1044)gAg>gCg	p.E348A	ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E312A|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E348A	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	350					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										AGCTTGGACGAGGCCATCGAG	0.657																																						ENST00000539229.1																			0											c.(1042-1044)gAg>gCg		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)						123.0	112.0	116.0					11																	67790162		2200	4294	6494	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67790162A>C	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.1043A>C	11.37:g.67790162A>C	ENSP00000474034:p.Glu348Ala					ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E312A|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E348A|ALDH3B1_ENST00000434449.1_3'UTR	p.E348A	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			10	1159	+			350					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.1043A>C																																																																																					0.657	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		85	362	0	0	0	1	0	85	362				
BTN3A1	11119	broad.mit.edu	37	6	26413464	26413464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26413464G>A	ENST00000289361.6	+	10	1454	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	BTN3A1_ENST00000414912.2_Silent_p.V310V|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAGGAGTGTGCAGCGTGCCA	0.502																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1084-1086)gtG>gtA		butyrophilin, subfamily 3, member A1							133.0	144.0	140.0					6																	26413464		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid metabolic process	integral to membrane		g.chr6:26413464G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1086G>A	6.37:g.26413464G>A						BTN3A1_ENST00000414912.2_Silent_p.V310V|BTN3A1_ENST00000476549.2_3'UTR	p.V362V	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			10	1454	+			362			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	c.1086G>A	CCDS4608.1																																																																																				0.502	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			117	572	0	0	0	1	0	117	572				
MYH8	4626	broad.mit.edu	37	17	10299984	10299984	+	Missense_Mutation	SNP	C	C	T	rs199592324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10299984C>T	ENST00000403437.2	-	32	4508	c.4414G>A	c.(4414-4416)Gcc>Acc	p.A1472T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1472					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTGGGAGGCCTCAAGTTCA	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	1	0.000199681	0.0008	0.0	5008	,	,		21723	0.0		0.0	False		,,,				2504	0.0					ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4414-4416)Gcc>Acc		myosin, heavy chain 8, skeletal muscle, perinatal		C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	103.0	105.0	105.0		4414	0.8	1.0	17		105	0,8600		0,0,4300	yes	missense	MYH8	NM_002472.2	58	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	1472/1938	10299984	5,13001	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10299984C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4414G>A	17.37:g.10299984C>T	ENSP00000384330:p.Ala1472Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1472T	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			32	4508	-			1472					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4414G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998557	0.54147	0.001135	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82619	-1.63	5.26	0.808	0.18719	Myosin tail (1);	0.362158	0.19522	N	0.112257	T	0.72630	0.3484	L	0.36672	1.1	0.32477	N	0.541975	B	0.22003	0.063	B	0.24848	0.056	T	0.69764	-0.5057	10	0.59425	D	0.04	.	7.0599	0.25119	0.2492:0.6169:0.0:0.134	.	1472	P13535	MYH8_HUMAN	T	1472	ENSP00000384330:A1472T	ENSP00000252173:A1472T	A	-	1	0	MYH8	10240709	0.231000	0.23751	0.997000	0.53966	0.552000	0.35366	0.814000	0.27239	0.324000	0.23333	-0.133000	0.14855	GCC		0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		53	288	0	0	0	1	0	53	288				
MASP2	10747	broad.mit.edu	37	1	11090932	11090932	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11090932G>A	ENST00000400897.3	-	9	1110	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	365	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GAGGGCCACAGTCAACAACTA	0.507																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1093-1095)gaC>gaT		mannan-binding lectin serine peptidase 2							76.0	63.0	67.0					1																	11090932		2203	4300	6503	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090932G>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1095C>T	1.37:g.11090932G>A							p.D365D	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	9	1110	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	365			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.1095C>T	CCDS123.1																																																																																				0.507	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		8	168	0	0	0	1	0	8	168				
C1orf132	100128537	broad.mit.edu	37	1	207975244	207975244	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207975244C>T	ENST00000385231.1	-	0	40				C1orf132_ENST00000385055.1_RNA	NR_029832.1				chromosome 1 open reading frame 132																		CAAAAACAGACTCTGAACACC	0.542																																						ENST00000385231.1																			0																				36.0	34.0	35.0					1																	207975244		1568	3582	5150			0							g.chr1:207975244C>T	AK092969		1q32.2	2013-03-14			ENSG00000203709	ENSG00000203709			32018	other	unknown						14702039	Standard			Approved	FLJ35650			OTTHUMG00000036553		1.37:g.207975244C>T								NR_029832.1						0	40	-									RNA	SNP	ENST00000385231.1	37																																																																																						0.542	C1orf132-202	KNOWN	basic	miRNA	processed_transcript				7	34	0	0	0	1	0	7	34				
TNS3	64759	broad.mit.edu	37	7	47333423	47333423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47333423C>T	ENST00000398879.1	-	25	4046	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E|TNS3_ENST00000355730.3_Missense_Mutation_p.G987E			Q68CZ2	TENS3_HUMAN	tensin 3	1227	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCCAAATCTCCAGCTGTGGC	0.433																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3679-3681)gGa>gAa		tensin 3							64.0	61.0	62.0					7																	47333423		1862	4099	5961	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47333423C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3680G>A	7.37:g.47333423C>T	ENSP00000381854:p.Gly1227Glu					TNS3_ENST00000355730.3_Missense_Mutation_p.G987E|TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E	p.G1227E			Q68CZ2	TENS3_HUMAN			25	4046	-			1227			SH2.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3680G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907899	0.72868	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.94793	-3.06;-3.06;-3.52	5.2	4.29	0.51040	SH2 motif (4);	1.364500	0.04355	N	0.356346	D	0.96445	0.8840	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.88733	0.3238	10	0.62326	D	0.03	-12.7553	8.8008	0.34907	0.1707:0.6643:0.165:0.0	.	1227	Q68CZ2	TENS3_HUMAN	E	1227;1227;987;683	ENSP00000312143:G1227E;ENSP00000381854:G1227E;ENSP00000347968:G987E	ENSP00000312143:G1227E	G	-	2	0	TNS3	47299948	0.999000	0.42202	0.895000	0.35142	0.974000	0.67602	3.456000	0.53000	1.264000	0.44198	0.655000	0.94253	GGA		0.433	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		39	187	0	0	0	1	0	39	187				
ABCA13	154664	broad.mit.edu	37	7	48378016	48378016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48378016G>A	ENST00000435803.1	+	29	10192	c.10168G>A	c.(10168-10170)Gat>Aat	p.D3390N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3390					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTTGCACATTGATGTAGACAA	0.383																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10168-10170)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 13							60.0	60.0	60.0					7																	48378016		1892	4104	5996	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48378016G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10168G>A	7.37:g.48378016G>A	ENSP00000411096:p.Asp3390Asn						p.D3390N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			29	10192	+			3390					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10168G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935998	0.52972	.	.	ENSG00000179869	ENST00000435803	D	0.84944	-1.92	5.43	5.43	0.79202	.	0.000000	0.51477	D	0.000085	D	0.89574	0.6754	L	0.56199	1.76	0.80722	D	1	P;D	0.71674	0.859;0.998	B;D	0.70935	0.301;0.971	D	0.88033	0.2776	10	0.34782	T	0.22	.	14.7439	0.69477	0.0:0.0:1.0:0.0	.	1092;3390	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3390	ENSP00000411096:D3390N	ENSP00000411096:D3390N	D	+	1	0	ABCA13	48348562	0.998000	0.40836	0.053000	0.19242	0.011000	0.07611	2.561000	0.45905	2.527000	0.85204	0.563000	0.77884	GAT		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	46	0	0	0	1	0	6	46				
ZNF24	7572	broad.mit.edu	37	18	32917607	32917607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32917607G>A	ENST00000261332.6	-	4	875	c.696C>T	c.(694-696)acC>acT	p.T232T	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.T232T	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	232					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGGGAAACAGGTTTCTCCAT	0.433																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(694-696)acC>acT		zinc finger protein 24							89.0	99.0	95.0					18																	32917607		2203	4298	6501	SO:0001819	synonymous_variant	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917607G>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.696C>T	18.37:g.32917607G>A						ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.T232T	p.T232T	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN			4	875	-			232					O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	ENST00000261332.6	37	c.696C>T	CCDS11912.1																																																																																				0.433	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		97	472	0	0	0	1	0	97	472				
ZFAND4	93550	broad.mit.edu	37	10	46121762	46121762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46121762C>T	ENST00000344646.5	-	7	1724	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Silent_p.Q429Q|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	503							zinc ion binding (GO:0008270)										AAGAAGAAGGCTGTAGCTTCC	0.413																																						ENST00000374366.3																			0											c.(1285-1287)caG>caA		zinc finger, AN1-type domain 4							78.0	80.0	79.0					10																	46121762		2203	4300	6503	SO:0001819	synonymous_variant	93550						zinc ion binding	g.chr10:46121762C>T	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1509G>A	10.37:g.46121762C>T						ZFAND4_ENST00000344646.5_Silent_p.Q503Q|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	p.Q429Q			Q86XD8	ANUB1_HUMAN			8	1752	-			503					A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	ENST00000344646.5	37	c.1287G>A	CCDS7214.1																																																																																				0.413	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		89	352	0	0	0	1	0	89	352				
ZFC3H1	196441	broad.mit.edu	37	12	72036294	72036294	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72036294C>G	ENST00000378743.3	-	6	1907	c.1549G>C	c.(1549-1551)Gat>Cat	p.D517H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	517					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCCACTATCAGTAGGTTGC	0.383																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1549-1551)Gat>Cat		zinc finger, C3H1-type containing							171.0	155.0	160.0					12																	72036294		1857	4098	5955	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72036294C>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1549G>C	12.37:g.72036294C>G	ENSP00000368017:p.Asp517His						p.D517H	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			6	1907	-			517					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1549G>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748941	0.89753	.	.	ENSG00000133858	ENST00000378743	T	0.38077	1.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	N	0.19112	0.55	0.80722	D	1	P	0.47604	0.898	P	0.47786	0.557	T	0.23013	-1.0200	10	0.72032	D	0.01	.	19.6898	0.95996	0.0:1.0:0.0:0.0	.	517	O60293	ZC3H1_HUMAN	H	517	ENSP00000368017:D517H	ENSP00000368017:D517H	D	-	1	0	ZFC3H1	70322561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.705000	0.74644	2.669000	0.90835	0.655000	0.94253	GAT		0.383	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		8	497	0	0	0	1	0	8	497				
PEAK1	79834	broad.mit.edu	37	15	77425586	77425586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77425586G>A	ENST00000560626.2	-	6	4313	c.3838C>T	c.(3838-3840)Ctt>Ttt	p.L1280F	PEAK1_ENST00000312493.4_Missense_Mutation_p.L1280F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1280					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGATTCTCAAGTCCTCGATAA	0.522																																						ENST00000560626.2																			0											c.(3838-3840)Ctt>Ttt		pseudopodium-enriched atypical kinase 1							141.0	136.0	138.0					15																	77425586		1877	4102	5979	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425586G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3838C>T	15.37:g.77425586G>A	ENSP00000452796:p.Leu1280Phe					PEAK1_ENST00000312493.4_Missense_Mutation_p.L1280F	p.L1280F			Q9H792	PEAK1_HUMAN			6	4313	-			1280					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3838C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629020	0.67015	.	.	ENSG00000173517	ENST00000312493	T	0.30182	1.54	5.61	3.54	0.40534	.	0.223449	0.39475	N	0.001350	T	0.30355	0.0762	N	0.19112	0.55	0.33896	D	0.637907	D	0.59767	0.986	P	0.54060	0.741	T	0.42816	-0.9429	10	0.72032	D	0.01	-10.6377	12.4949	0.55923	0.0:0.0:0.7218:0.2782	.	1280	Q9H792	PEAK1_HUMAN	F	1280	ENSP00000309230:L1280F	ENSP00000309230:L1280F	L	-	1	0	AC087465.1	75212641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.061000	0.49963	2.642000	0.89623	0.655000	0.94253	CTT		0.522	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			133	698	0	0	0	1	0	133	698				
RC3H1	149041	broad.mit.edu	37	1	173947683	173947683	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173947683T>G	ENST00000367696.2	-	7	1396	c.1045A>C	c.(1045-1047)Aac>Cac	p.N349H	RC3H1_ENST00000258349.4_Missense_Mutation_p.N349H|RC3H1_ENST00000367694.2_Missense_Mutation_p.N349H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	349					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CGGTTCAAGTTTGCTGGGTCT	0.423																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(1045-1047)Aac>Cac		ring finger and CCCH-type domains 1							112.0	114.0	113.0					1																	173947683		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173947683T>G	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1045A>C	1.37:g.173947683T>G	ENSP00000356669:p.Asn349His					RC3H1_ENST00000367694.2_Missense_Mutation_p.N349H|RC3H1_ENST00000258349.4_Missense_Mutation_p.N349H	p.N349H			Q5TC82	RC3H1_HUMAN			7	1396	-			349					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1045A>C	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818545	0.90790	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.93859	-3.3;-3.3;-3.3	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.74023	0.96;0.96;0.982;0.952	D	0.95993	0.8987	10	0.72032	D	0.01	-15.3279	15.8908	0.79296	0.0:0.0:0.0:1.0	.	349;349;349;349	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	349	ENSP00000356669:N349H;ENSP00000258349:N349H;ENSP00000356667:N349H	ENSP00000258349:N349H	N	-	1	0	RC3H1	172214306	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.037000	0.88933	2.144000	0.66660	0.529000	0.55759	AAC		0.423	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		9	417	0	0	0	1	0	9	417				
SMEK2	57223	broad.mit.edu	37	2	55825881	55825881	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825881T>C	ENST00000345102.5	-	4	893	c.592A>G	c.(592-594)Att>Gtt	p.I198V	SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V|SMEK2_ENST00000272313.5_Missense_Mutation_p.I198V	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	198					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTCCTCTAATAATTTCATAC	0.383																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(592-594)Att>Gtt		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							64.0	69.0	67.0					2																	55825881		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825881T>C	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.592A>G	2.37:g.55825881T>C	ENSP00000339769:p.Ile198Val					SMEK2_ENST00000345102.5_Missense_Mutation_p.I198V|SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V	p.I198V	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	919	-			198					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.592A>G	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591840	0.28357	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.40225	1.04;1.04;1.04	5.74	4.56	0.56223	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.148187	0.64402	D	0.000010	T	0.24470	0.0593	N	0.16307	0.4	0.44789	D	0.997791	B;B;B;B	0.13594	0.0;0.004;0.001;0.008	B;B;B;B	0.20384	0.001;0.029;0.003;0.013	T	0.05835	-1.0861	10	0.06494	T	0.89	-7.5148	12.0855	0.53695	0.129:0.0:0.0:0.871	.	198;198;198;198	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	V	198	ENSP00000272313:I198V;ENSP00000385912:I198V;ENSP00000339769:I198V	ENSP00000272313:I198V	I	-	1	0	SMEK2	55679385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.134000	0.57990	0.953000	0.37825	0.533000	0.62120	ATT		0.383	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		97	227	0	0	0	1	0	97	227				
REXO1	57455	broad.mit.edu	37	19	1819095	1819095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1819095C>T	ENST00000170168.4	-	8	2780	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	CTB-31O20.4_ENST00000593201.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	896						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCCAACACCACCTCGTGG	0.667																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(2686-2688)Gtg>Atg		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							37.0	38.0	38.0					19																	1819095		2203	4298	6501	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1819095C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2686G>A	19.37:g.1819095C>T	ENSP00000170168:p.Val896Met						p.V896M	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	2780	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	896					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.2686G>A	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955945	0.73902	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.16597	2.33	3.98	2.91	0.33838	.	0.000000	0.64402	U	0.000001	T	0.26231	0.0640	L	0.53249	1.67	0.52501	D	0.999958	P;P	0.51057	0.941;0.874	B;P	0.53146	0.374;0.719	T	0.02150	-1.1205	10	0.72032	D	0.01	-18.672	10.5817	0.45259	0.1932:0.8068:0.0:0.0	.	205;896	B4DWY3;Q8N1G1	.;REXO1_HUMAN	M	896;168	ENSP00000170168:V896M	ENSP00000170168:V896M	V	-	1	0	REXO1	1770095	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.543000	0.60684	0.992000	0.38840	0.561000	0.74099	GTG		0.667	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		44	178	0	0	0	1	0	44	178				
GLB1	2720	broad.mit.edu	37	3	33099761	33099761	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33099761C>A	ENST00000399402.3	-	6	594	c.463G>T	c.(463-465)Gtt>Ttt	p.V155F	GLB1_ENST00000445488.2_Splice_Site_p.V233F|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Splice_Site_p.V185F	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	185			L -> R (in GM1G2 and GM1G3; 6.7% of wild- type enzyme activity). {ECO:0000269|PubMed:17309651, ECO:0000269|PubMed:19472408}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCATTTTCAACCTGTGAGTGA	0.453																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.e6-1		galactosidase, beta 1							27.0	29.0	28.0					3																	33099761		1851	4099	5950	SO:0001630	splice_region_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33099761C>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.463-1G>T	3.37:g.33099761C>A						GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Splice_Site_p.V233_splice|GLB1_ENST00000399402.3_Splice_Site_p.V155_splice	p.V185_splice	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			6	697	-		Melanoma(143;0.104)	185					B2R7H8|B7Z6B0|P16279	Splice_Site	SNP	ENST00000399402.3	37	c.552_splice	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775302	0.90108	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000415454;ENST00000440656	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.57	5.57	0.84162	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 35, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98516	1.0621	10	0.87932	D	0	-22.4263	19.5175	0.95170	0.0:1.0:0.0:0.0	.	185;185;233	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	F	155;185;233;26;54	ENSP00000382333:V155F;ENSP00000306920:V185F;ENSP00000393377:V233F;ENSP00000411813:V26F;ENSP00000411769:V54F	ENSP00000306920:V185F	V	-	1	0	GLB1	33074765	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.574000	0.67424	2.780000	0.95670	0.655000	0.94253	GTT		0.453	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404	Missense_Mutation	30	125	1	0	5.91797e-21	1	6.65236e-21	30	125				
DCAF13	25879	broad.mit.edu	37	8	104432575	104432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104432575C>T	ENST00000297579.5	+	2	887	c.610C>T	c.(610-612)Cga>Tga	p.R204*	DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521999.1_Intron	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	52					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAACTGGAACGAGTATTTGC	0.428																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(610-612)Cga>Tga		DDB1 and CUL4 associated factor 13							113.0	103.0	106.0					8																	104432575		2203	4300	6503	SO:0001587	stop_gained	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104432575C>T	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.610C>T	8.37:g.104432575C>T	ENSP00000297579:p.Arg204*					DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*	p.R204*	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			2	887	+			52					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Nonsense_Mutation	SNP	ENST00000297579.5	37	c.610C>T	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798807	0.90538	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	.	.	.	5.19	5.19	0.71726	.	0.111571	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3513	18.7083	0.91646	0.0:1.0:0.0:0.0	.	.	.	.	X	204;48;48;52;48	.	ENSP00000297579:R204X	R	+	1	2	DCAF13	104501751	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.375000	0.59549	2.415000	0.81967	0.650000	0.86243	CGA		0.428	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		13	183	0	0	0	1	0	13	183				
LPHN3	23284	broad.mit.edu	37	4	62598530	62598530	+	Silent	SNP	C	C	T	rs187372699		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62598530C>T	ENST00000514591.1	+	7	782	c.453C>T	c.(451-453)tcC>tcT	p.S151S	LPHN3_ENST00000506746.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000504896.1_Silent_p.S151S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000511324.1_Silent_p.S219S|LPHN3_ENST00000512091.2_Silent_p.S151S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000506720.1_Silent_p.S219S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTTTGAGTCCGACCACCAAT	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16931	0.0		0.0	False		,,,				2504	0.0					ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(451-453)tcC>tcT		latrophilin 3		C		0,3744		0,0,1872	36.0	33.0	34.0		453	-11.5	0.1	4		34	1,8201		0,1,4100	no	coding-synonymous	LPHN3	NM_015236.4		0,1,5972	TT,TC,CC		0.0122,0.0,0.0084		151/1470	62598530	1,11945	1872	4101	5973	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598530C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.453C>T	4.37:g.62598530C>T						LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000504896.1_Silent_p.S151S|LPHN3_ENST00000514591.1_Silent_p.S151S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000506746.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000511324.1_Silent_p.S219S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000506720.1_Silent_p.S219S	p.S151S			Q9HAR2	LPHN3_HUMAN			7	1200	+			151			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.453C>T	CCDS54768.1																																																																																				0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			16	67	0	0	0	1	0	16	67				
KCNV2	169522	broad.mit.edu	37	9	2719093	2719093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2719093G>A	ENST00000382082.3	+	1	1592	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	452					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.A452T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGTGGGCCGCGGTGAGTAC	0.602																																						ENST00000382082.3																			1	Substitution - Missense(1)	p.A452T(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(1354-1356)Gcg>Acg		potassium channel, subfamily V, member 2							47.0	46.0	46.0					9																	2719093		2203	4300	6503	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2719093G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1354G>A	9.37:g.2719093G>A	ENSP00000371514:p.Ala452Thr						p.A452T	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1592	+			452					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.1354G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614062	0.28712	.	.	ENSG00000168263	ENST00000382082	D	0.98313	-4.86	5.44	4.54	0.55810	Ion transport (1);	0.051120	0.85682	D	0.000000	D	0.96466	0.8847	N	0.20401	0.57	0.58432	D	0.999999	D	0.65815	0.995	P	0.55713	0.782	D	0.94666	0.7852	10	0.15499	T	0.54	.	14.1427	0.65329	0.0716:0.0:0.9284:0.0	.	452	Q8TDN2	KCNV2_HUMAN	T	452	ENSP00000371514:A452T	ENSP00000371514:A452T	A	+	1	0	KCNV2	2709093	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	6.784000	0.75084	1.299000	0.44798	0.650000	0.86243	GCG		0.602	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		47	196	0	0	0	1	0	47	196				
ZFHX4	79776	broad.mit.edu	37	8	77616625	77616625	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77616625C>A	ENST00000521891.2	+	2	750	c.302C>A	c.(301-303)cCt>cAt	p.P101H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCACTGCCCTAATGCCCGC	0.498										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(301-303)cCt>cAt		zinc finger homeobox 4							184.0	179.0	180.0					8																	77616625		2041	4183	6224	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616625C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.302C>A	8.37:g.77616625C>A	ENSP00000430497:p.Pro101His	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H	p.P101H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	750	+			101					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.302C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433634	0.62955	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.43	5.43	0.79202	.	0.000000	0.44285	U	0.000473	T	0.54806	0.1881	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.57797	-0.7749	10	0.87932	D	0	.	19.4356	0.94792	0.0:1.0:0.0:0.0	.	101;101;101;101	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	101	ENSP00000430497:P101H;ENSP00000399605:P101H;ENSP00000050961:P101H;ENSP00000428525:P101H;ENSP00000429495:P101H;ENSP00000427775:P101H;ENSP00000427739:P101H;ENSP00000430848:P101H	ENSP00000050961:P101H	P	+	2	0	ZFHX4	77779180	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.293000	0.78740	2.826000	0.97356	0.655000	0.94253	CCT		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		147	678	1	0	2.7625e-60	1	3.47358e-60	147	678				
PRKCDBP	112464	broad.mit.edu	37	11	6340679	6340679	+	Missense_Mutation	SNP	T	T	C	rs369741142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6340679T>C	ENST00000303927.3	-	2	670	c.500A>G	c.(499-501)gAc>gGc	p.D167G	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.D199G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	167					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCTCCTCGTCCGAGCTCTC	0.692																																						ENST00000303927.3																			0				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(499-501)gAc>gGc		protein kinase C, delta binding protein		T	GLY/ASP	0,4400		0,0,2200	18.0	22.0	20.0		500	5.1	0.6	11		20	1,8583		0,1,4291	no	missense	PRKCDBP	NM_145040.2	94	0,1,6491	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	167/262	6340679	1,12983	2200	4292	6492	SO:0001583	missense	112464							g.chr11:6340679T>C	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.500A>G	11.37:g.6340679T>C	ENSP00000307292:p.Asp167Gly					PRKCDBP_ENST00000530979.1_Missense_Mutation_p.D199G	p.D167G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	670	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	167						Missense_Mutation	SNP	ENST00000303927.3	37	c.500A>G	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311230	0.81358	0.0	1.16E-4	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.62498	0.02;0.02	5.08	5.08	0.68730	.	0.056346	0.64402	D	0.000002	T	0.64159	0.2573	L	0.47716	1.5	0.29727	N	0.838205	P	0.43094	0.799	P	0.49829	0.623	T	0.66712	-0.5854	10	0.87932	D	0	-24.4683	11.2449	0.48991	0.0:0.0:0.0:1.0	.	167	Q969G5	PRDBP_HUMAN	G	167;199	ENSP00000307292:D167G;ENSP00000432047:D199G	ENSP00000307292:D167G	D	-	2	0	PRKCDBP	6297255	0.944000	0.32072	0.601000	0.28877	0.976000	0.68499	2.835000	0.48175	1.920000	0.55613	0.459000	0.35465	GAC		0.692	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		34	225	0	0	0	1	0	34	225				
ANKRD11	29123	broad.mit.edu	37	16	89350530	89350530	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89350530A>C	ENST00000301030.4	-	9	2880	c.2420T>G	c.(2419-2421)gTt>gGt	p.V807G	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	807	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCCCTATAAACCTTTTCTTT	0.313																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2419-2421)gTt>gGt		ankyrin repeat domain 11							37.0	40.0	39.0					16																	89350530		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350530A>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2420T>G	16.37:g.89350530A>C	ENSP00000301030:p.Val807Gly					ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2880	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	807			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2420T>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	0.971	-0.700084	0.03279	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.38560	1.13;1.13	5.66	-0.892	0.10570	.	0.755412	0.12064	N	0.502858	T	0.22589	0.0545	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.25882	-1.0119	10	0.15952	T	0.53	.	6.1812	0.20472	0.3566:0.366:0.2774:0.0	.	426;807	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	G	807;807;426	ENSP00000301030:V807G;ENSP00000367581:V807G	ENSP00000301030:V807G	V	-	2	0	ANKRD11	87878031	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	0.721000	0.25911	-0.456000	0.07043	-0.441000	0.05720	GTT		0.313	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		10	185	0	0	0	1	0	10	185				
NTRK3	4916	broad.mit.edu	37	15	88669595	88669595	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88669595C>A	ENST00000360948.2	-	12	1464	c.1303G>T	c.(1303-1305)Gca>Tca	p.A435S	NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000394480.2_Missense_Mutation_p.A435S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S|NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S|NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	435					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTCCAACTGCTATGGATACC	0.438			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1303-1305)Gca>Tca		neurotrophic tyrosine kinase, receptor, type 3							105.0	91.0	96.0					15																	88669595		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88669595C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1303G>T	15.37:g.88669595C>A	ENSP00000354207:p.Ala435Ser	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S|NTRK3_ENST00000360948.2_Missense_Mutation_p.A435S|NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000558306.1_Intron	p.A435S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1624	-			435					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1303G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687306	0.68157	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74526	-0.84;-0.79;-0.85;-0.84;-0.73;-0.1;-0.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	M	0.71206	2.165	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;0.997;0.947;1.0;0.999;0.947	D;D;P;D;D;P	0.81914	0.994;0.985;0.677;0.994;0.995;0.677	D	0.86621	0.1879	10	0.66056	D	0.02	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	337;427;427;435;435;435	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	435;435;427;435;337;435;435	ENSP00000377990:A435S;ENSP00000354207:A435S;ENSP00000350356:A427S;ENSP00000347397:A435S;ENSP00000437773:A337S;ENSP00000444673:A435S;ENSP00000318328:A435S	ENSP00000318328:A435S	A	-	1	0	NTRK3	86470599	1.000000	0.71417	0.932000	0.37286	0.122000	0.20287	7.543000	0.82106	2.652000	0.90054	0.655000	0.94253	GCA		0.438	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				18	166	1	0	1.99824e-07	1	2.07512e-07	18	166				
ARVCF	421	broad.mit.edu	37	22	19965028	19965028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19965028C>A	ENST00000263207.3	-	9	2071	c.1780G>T	c.(1780-1782)Gag>Tag	p.E594*	ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	594					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCTCGGCCTCCTGGTACCTG	0.667																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1780-1782)Gag>Tag		armadillo repeat gene deleted in velocardiofacial syndrome							51.0	58.0	56.0					22																	19965028		2203	4300	6503	SO:0001587	stop_gained	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19965028C>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1780G>T	22.37:g.19965028C>A	ENSP00000263207:p.Glu594*					ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*	p.E594*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			9	2071	-	Colorectal(54;0.0993)		594					B7WNV2	Nonsense_Mutation	SNP	ENST00000263207.3	37	c.1780G>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	40	8.382237	0.98786	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.05	1.9	0.25705	.	0.159506	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.541	8.6051	0.33769	0.1523:0.7647:0.0:0.083	.	.	.	.	X	594;531;531;531;594	.	.	E	-	1	0	ARVCF	18345028	1.000000	0.71417	0.999000	0.59377	0.600000	0.36913	5.825000	0.69286	0.638000	0.30545	0.563000	0.77884	GAG		0.667	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		75	506	1	0	5.44642e-36	1	6.51243e-36	75	506				
USP25	29761	broad.mit.edu	37	21	17181149	17181149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181149C>T	ENST00000285679.6	+	8	1171	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.H268Y|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	268	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGAGTTTACACACAAATTATT	0.348																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(802-804)Cac>Tac		ubiquitin specific peptidase 25							73.0	70.0	71.0					21																	17181149		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17181149C>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.802C>T	21.37:g.17181149C>T	ENSP00000285679:p.His268Tyr					USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.H268Y|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y|USP25_ENST00000547201.1_3'UTR	p.H268Y			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	8	1171	+			268					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.802C>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693941	0.88735	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.30182	1.54;1.54;1.54	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	1.0;0.999;0.988	T	0.64719	-0.6341	10	0.72032	D	0.01	.	18.3146	0.90215	0.0:1.0:0.0:0.0	.	268;268;268	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	Y	268	ENSP00000285681:H268Y;ENSP00000285679:H268Y;ENSP00000383044:H268Y	ENSP00000285679:H268Y	H	+	1	0	USP25	16103020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.380000	0.81148	0.591000	0.81541	CAC		0.348	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			30	151	0	0	0	1	0	30	151				
LRP1B	53353	broad.mit.edu	37	2	141208170	141208170	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141208170A>G	ENST00000389484.3	-	63	10995	c.10024T>C	c.(10024-10026)Tgt>Cgt	p.C3342R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3342	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCACCACAGTCATCCACG	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10024-10026)Tgt>Cgt		low density lipoprotein receptor-related protein 1B							128.0	126.0	127.0					2																	141208170		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141208170A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10024T>C	2.37:g.141208170A>G	ENSP00000374135:p.Cys3342Arg	TSP Lung(27;0.18)					p.C3342R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	63	10995	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3342			LDL-receptor class A 21.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10024T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704899	0.88924	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.51	5.51	0.81932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96100	0.9068	10	0.87932	D	0	.	15.9059	0.79430	1.0:0.0:0.0:0.0	.	3342	Q9NZR2	LRP1B_HUMAN	R	3342;3280	ENSP00000374135:C3342R	ENSP00000374135:C3342R	C	-	1	0	LRP1B	140924640	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.245000	0.95431	2.225000	0.72522	0.477000	0.44152	TGT		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		128	310	0	0	0	1	0	128	310				
RNF43	54894	broad.mit.edu	37	17	56435680	56435680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435680C>A	ENST00000584437.1	-	8	3412	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I			Q68DV7	RNF43_HUMAN	ring finger protein 43	486	Ser-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCTGTAGGCTGATGTCCGT	0.587																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1456-1458)aGc>aTc		ring finger protein 43							84.0	84.0	84.0					17																	56435680		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435680C>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1457G>T	17.37:g.56435680C>A	ENSP00000463069:p.Ser486Ile					RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I|RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I	p.S486I			Q68DV7	RNF43_HUMAN			8	3412	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		486			Ser-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1457G>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354749	0.41700	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.34667	1.35;1.41	4.69	4.69	0.59074	.	0.283745	0.41396	D	0.000883	T	0.51227	0.1662	L	0.36672	1.1	0.36562	D	0.872467	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.991	T	0.62358	-0.6871	10	0.87932	D	0	-19.8757	16.5861	0.84727	0.0:1.0:0.0:0.0	.	445;486;486	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	I	486;445	ENSP00000385328:S486I;ENSP00000441969:S445I	ENSP00000385328:S486I	S	-	2	0	RNF43	53790679	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	5.849000	0.69465	2.160000	0.67779	0.174000	0.16983	AGC		0.587	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		86	445	1	0	1.42074e-37	1	1.70676e-37	86	445				
SLC5A7	60482	broad.mit.edu	37	2	108622641	108622641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108622641C>A	ENST00000264047.2	+	7	1154	c.878C>A	c.(877-879)gCc>gAc	p.A293D	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	293					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTCATTGGGGCCATTGGAGCA	0.537																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(877-879)gCc>gAc		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						101.0	94.0	96.0					2																	108622641		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108622641C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.878C>A	2.37:g.108622641C>A	ENSP00000264047:p.Ala293Asp					SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D	p.A293D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			7	1154	+			293					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.878C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023063	0.75275	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88201	-2.35;-2.35;-2.35	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95437	0.8522	10	0.45353	T	0.12	-21.0254	19.8703	0.96847	0.0:1.0:0.0:0.0	.	293	Q9GZV3	SC5A7_HUMAN	D	293;188;293	ENSP00000387346:A293D;ENSP00000445351:A188D;ENSP00000264047:A293D	ENSP00000264047:A293D	A	+	2	0	SLC5A7	107989073	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	7.773000	0.85462	2.770000	0.95276	0.650000	0.86243	GCC		0.537	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			36	477	1	0	2.6416e-12	1	2.83477e-12	36	477				
PCDH18	54510	broad.mit.edu	37	4	138451342	138451342	+	Missense_Mutation	SNP	C	C	T	rs202041043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138451342C>T	ENST00000344876.4	-	1	2287	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	634	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTCACATGATCGTGGATCAAT	0.438																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1900-1902)cGa>cAa		protocadherin 18							224.0	197.0	206.0					4																	138451342		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451342C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1901G>A	4.37:g.138451342C>T	ENSP00000355082:p.Arg634Gln					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q	p.R634Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2287	-	all_hematologic(180;0.24)		634			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1901G>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594153	0.28445	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	5.93	2.81	0.32909	Cadherin (4);Cadherin-like (1);	0.249600	0.20560	N	0.089923	T	0.32496	0.0831	L	0.38733	1.17	0.09310	N	0.999995	B;B;B	0.20671	0.023;0.003;0.047	B;B;B	0.17098	0.012;0.003;0.017	T	0.14839	-1.0458	10	0.25106	T	0.35	.	6.8418	0.23967	0.0:0.5662:0.0:0.4338	.	414;634;634	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	Q	634;634;414	ENSP00000355082:R634Q;ENSP00000390688:R634Q;ENSP00000425903:R414Q	ENSP00000355082:R634Q	R	-	2	0	PCDH18	138670792	0.001000	0.12720	0.964000	0.40570	0.992000	0.81027	1.013000	0.29937	0.791000	0.33826	0.563000	0.77884	CGA		0.438	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		221	906	0	0	0	1	0	221	906				
APLP2	334	broad.mit.edu	37	11	129993589	129993589	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129993589C>T	ENST00000263574.5	+	7	1077	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	APLP2_ENST00000345598.5_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.C345C|APLP2_ENST00000338167.5_Silent_p.C335C|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000528499.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	335	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGGGAAAGTGCGTGCGCTTTA	0.547																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1003-1005)tgC>tgT		amyloid beta (A4) precursor-like protein 2							129.0	123.0	125.0					11																	129993589		2201	4297	6498	SO:0001819	synonymous_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129993589C>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1005C>T	11.37:g.129993589C>T						APLP2_ENST00000345598.5_Intron|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000278756.7_Silent_p.C345C|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000338167.5_Silent_p.C335C	p.C335C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	7	1077	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	335			BPTI/Kunitz inhibitor.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	c.1005C>T	CCDS8486.1																																																																																				0.547	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		38	609	0	0	0	1	0	38	609				
CCDC108	255101	broad.mit.edu	37	2	219870946	219870946	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219870946C>A	ENST00000341552.5	-	31	4803		c.e31-1		CCDC108_ENST00000441968.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Splice_Site	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCAGTGTCTTTGGGAAGG	0.602																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.e31-1		coiled-coil domain containing 108							52.0	58.0	56.0					2																	219870946		2202	4300	6502	SO:0001630	splice_region_variant	255101					integral to membrane	structural molecule activity	g.chr2:219870946C>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4720-1G>T	2.37:g.219870946C>A						CCDC108_ENST00000453220.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Splice_Site		NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4803	-		Renal(207;0.0915)						A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Splice_Site	SNP	ENST00000341552.5	37		CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255038	0.39896	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.862	0.79032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC108	219579190	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.724000	0.61972	2.466000	0.83321	0.655000	0.94253	.		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	Intron	69	355	1	0	5.89852e-23	1	6.69324e-23	69	355				
LOC645166	645166	broad.mit.edu	37	1	148932898	148932898	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148932898C>T	ENST00000539543.1	+	0	154					NR_027355.2																						GCTCAGTCTGCGGCCAAGACT	0.617																																						ENST00000539543.1																			0																																																			0							g.chr1:148932898C>T																													1.37:g.148932898C>T								NR_027355.1						0	154	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.617	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				48	994	0	0	0	1	0	48	994				
CMTR2	55783	broad.mit.edu	37	16	71319453	71319453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71319453C>A	ENST00000338099.5	-	3	707	c.371G>T	c.(370-372)aGc>aTc	p.S124I	CMTR2_ENST00000434935.2_Missense_Mutation_p.S124I			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	124	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										AAGTGGAAAGCTGCACAAAAT	0.388																																						ENST00000338099.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(370-372)aGc>aTc									59.0	58.0	58.0					16																	71319453		2198	4300	6498	SO:0001583	missense	0					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319453C>A	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.371G>T	16.37:g.71319453C>A	ENSP00000337512:p.Ser124Ile					FTSJD1_ENST00000434935.2_Missense_Mutation_p.S124I	p.S124I			Q8IYT2	FTSJ1_HUMAN			3	707	-			124					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.371G>T	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573462	0.28092	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.30714	1.52;1.52	5.56	4.61	0.57282	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.258640	0.43416	D	0.000561	T	0.38799	0.1054	L	0.43152	1.355	0.40103	D	0.976396	D	0.55172	0.97	P	0.57846	0.828	T	0.14896	-1.0456	10	0.36615	T	0.2	-37.2314	9.7217	0.40306	0.0:0.8437:0.0:0.1563	.	124	Q8IYT2	FTSJ1_HUMAN	I	124	ENSP00000337512:S124I;ENSP00000411148:S124I	ENSP00000337512:S124I	S	-	2	0	FTSJD1	69876954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.395000	0.34520	1.342000	0.45619	0.561000	0.74099	AGC		0.388	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		80	295	1	0	5.04879e-28	1	5.86081e-28	80	295				
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139929414G>A	ENST00000314330.2	+	3	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632																																						ENST00000314330.2																			0				cervix(1)|lung(2)	3						c.(481-483)Gaa>Aaa		chromosome 9 open reading frame 139							45.0	57.0	53.0					9																	139929414		2198	4295	6493	SO:0001583	missense	401563							g.chr9:139929414G>A		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.481G>A	9.37:g.139929414G>A	ENSP00000318119:p.Glu161Lys						p.E161K	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1995	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	161					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.481G>A	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	g	13.60	2.285647	0.40394	.	.	ENSG00000180539	ENST00000314330	T	0.54675	0.56	2.64	0.667	0.17907	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	P	0.44090	0.826	B	0.33846	0.171	T	0.12682	-1.0538	9	0.87932	D	0	.	5.1043	0.14775	0.3008:0.0:0.6992:0.0	.	161	Q6ZV77	CI139_HUMAN	K	161	ENSP00000318119:E161K	ENSP00000318119:E161K	E	+	1	0	C9orf139	139049235	0.001000	0.12720	0.001000	0.08648	0.302000	0.27658	0.219000	0.17641	0.169000	0.19679	0.290000	0.19541	GAA		0.632	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		90	483	0	0	0	1	0	90	483				
CD93	22918	broad.mit.edu	37	20	23066450	23066450	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066450T>C	ENST00000246006.4	-	1	527	c.380A>G	c.(379-381)aAc>aGc	p.N127S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	127	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTGTGCCAGTTAGAGTAAGG	0.642																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(379-381)aAc>aGc		CD93 molecule							23.0	27.0	26.0					20																	23066450		2202	4298	6500	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066450T>C	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.380A>G	20.37:g.23066450T>C	ENSP00000246006:p.Asn127Ser						p.N127S	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	527	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		127			C-type lectin.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.380A>G	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598365	0.66332	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.20463	2.07	5.49	5.49	0.81192	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.184763	0.37857	N	0.001901	T	0.42517	0.1206	M	0.64080	1.96	0.42882	D	0.994172	D	0.89917	1.0	D	0.76071	0.987	T	0.34179	-0.9839	10	0.66056	D	0.02	-56.0508	12.2766	0.54739	0.0:0.0:0.1411:0.8589	.	127	Q9NPY3	C1QR1_HUMAN	S	127	ENSP00000246006:N127S	ENSP00000246006:N127S	N	-	2	0	CD93	23014450	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	1.684000	0.37649	2.194000	0.70268	0.533000	0.62120	AAC		0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		18	97	0	0	0	1	0	18	97				
DSP	1832	broad.mit.edu	37	6	7583025	7583025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7583025G>A	ENST00000379802.3	+	24	5871	c.5530G>A	c.(5530-5532)Gag>Aag	p.E1844K	DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1844	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAACTCTAGAGGCAGAAAC	0.498																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5530-5532)Gag>Aag		desmoplakin							108.0	111.0	110.0					6																	7583025		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583025G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5530G>A	6.37:g.7583025G>A	ENSP00000369129:p.Glu1844Lys					DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	p.E1844K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5871	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1844			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5530G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765989	0.69878	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.66815	-0.23;-0.23	5.2	5.2	0.72013	.	0.103621	0.41823	D	0.000808	T	0.58538	0.2129	N	0.16903	0.455	0.31119	N	0.709018	D;B	0.76494	0.999;0.247	P;B	0.60541	0.876;0.091	T	0.60772	-0.7197	10	0.41790	T	0.15	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	1292;1844	Q4LE79;P15924	.;DESP_HUMAN	K	1844;1245	ENSP00000369129:E1844K;ENSP00000396591:E1245K	ENSP00000369129:E1844K	E	+	1	0	DSP	7528024	1.000000	0.71417	0.145000	0.22337	0.902000	0.53008	9.860000	0.99555	2.410000	0.81850	0.650000	0.86243	GAG		0.498	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		103	497	0	0	0	1	0	103	497				
TNXB	7148	broad.mit.edu	37	6	32036330	32036330	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32036330G>A	ENST00000375244.3	-	17	6258	c.6057C>T	c.(6055-6057)gtC>gtT	p.V2019V	TNXB_ENST00000375247.2_Silent_p.V2019V			P22105	TENX_HUMAN	tenascin XB	2101	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCTGTACTGGACCAGGAAGT	0.607																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(6055-6057)gtC>gtT		tenascin XB							42.0	45.0	44.0					6																	32036330		2006	4171	6177	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036330G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6057C>T	6.37:g.32036330G>A						TNXB_ENST00000375247.2_Silent_p.V2019V	p.V2019V			P22105	TENX_HUMAN			17	6258	-			2101			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.6057C>T																																																																																					0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		38	183	0	0	0	1	0	38	183				
NKD1	85407	broad.mit.edu	37	16	50583467	50583467	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50583467G>A	ENST00000268459.3	+	3	416		c.e3+1		RP11-401P9.1_ENST00000569940.2_RNA|NKD1_ENST00000564336.1_Splice_Site	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AAGCACCCGGGTATGATTCCC	0.652																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.e3+1		naked cuticle homolog 1 (Drosophila)							18.0	19.0	18.0					16																	50583467		2196	4299	6495	SO:0001630	splice_region_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50583467G>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.192+1G>A	16.37:g.50583467G>A						NKD1_ENST00000564336.1_Splice_Site		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	3	416	+		all_cancers(37;0.229)						B2RC39|Q8WZ08	Splice_Site	SNP	ENST00000268459.3	37		CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924349	0.52653	.	.	ENSG00000140807	ENST00000268459	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3982	0.60868	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NKD1	49140968	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.869000	0.63028	2.263000	0.75096	0.313000	0.20887	.		0.652	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1		Intron	15	80	0	0	0	1	0	15	80				
VTN	7448	broad.mit.edu	37	17	26695907	26695907	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695907A>G	ENST00000226218.4	-	5	1430	c.812T>C	c.(811-813)gTc>gCc	p.V271A	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	271					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GAAGAAGTAGACCCGCTCCCG	0.582																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(811-813)gTc>gCc		vitronectin	Urokinase(DB00013)						71.0	63.0	66.0					17																	26695907		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26695907A>G	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.812T>C	17.37:g.26695907A>G	ENSP00000226218:p.Val271Ala					SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	p.V271A	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	5	1430	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		271			Hemopexin-like 3.		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.812T>C	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727973	0.48833	.	.	ENSG00000255604	ENST00000226218	T	0.02916	4.11	5.92	0.74	0.18330	Hemopexin/matrixin (2);	0.161668	0.53938	N	0.000042	T	0.02494	0.0076	L	0.28115	0.83	0.48511	D	0.999661	B	0.30793	0.295	B	0.30495	0.116	T	0.56068	-0.8040	10	0.45353	T	0.12	-21.9931	10.6541	0.45665	0.6559:0.0:0.3441:0.0	.	271	P04004	VTNC_HUMAN	A	271	ENSP00000226218:V271A	ENSP00000226218:V271A	V	-	2	0	AC002094.1	23720034	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.268000	0.33062	0.146000	0.19002	0.533000	0.62120	GTC		0.582	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		19	471	0	0	0	1	0	19	471				
KRT25	147183	broad.mit.edu	37	17	38910676	38910676	+	Silent	SNP	G	G	A	rs146092638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38910676G>A	ENST00000312150.4	-	2	534	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGGCATTATCGATCTGCAGAA	0.388													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20520	0.0		0.0	False		,,,				2504	0.0					ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(472-474)atC>atT		keratin 25							137.0	130.0	133.0					17																	38910676		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910676G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.474C>T	17.37:g.38910676G>A							p.I158I	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			2	534	-		Breast(137;0.00526)	158			Coil 1B.|Rod.			Silent	SNP	ENST00000312150.4	37	c.474C>T	CCDS11373.1																																																																																				0.388	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		81	334	0	0	0	1	0	81	334				
CCDC66	285331	broad.mit.edu	37	3	56653485	56653485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56653485C>T	ENST00000394672.3	+	16	2635	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	CCDC66_ENST00000436465.2_Silent_p.I855I|CCDC66_ENST00000326595.7_Silent_p.I821I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	855					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAAATGAGATCTATTACCTTG	0.378																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(2563-2565)atC>atT		coiled-coil domain containing 66							102.0	111.0	108.0					3																	56653485		2203	4300	6503	SO:0001819	synonymous_variant	285331							g.chr3:56653485C>T	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2565C>T	3.37:g.56653485C>T						CCDC66_ENST00000436465.2_Silent_p.I855I|CCDC66_ENST00000326595.7_Silent_p.I821I	p.I855I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	16	2635	+			855					B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.2565C>T	CCDS46852.1																																																																																				0.378	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		92	351	0	0	0	1	0	92	351				
TNR	7143	broad.mit.edu	37	1	175375803	175375803	+	Silent	SNP	G	G	A	rs142523357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175375803G>A	ENST00000367674.2	-	3	756	c.48C>T	c.(46-48)ggC>ggT	p.G16G	TNR_ENST00000263525.2_Silent_p.G16G			Q92752	TENR_HUMAN	tenascin R	16					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAGGTTGATGCCAATGAGCA	0.557													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20810	0.0		0.0	False		,,,				2504	0.0					ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(46-48)ggC>ggT		tenascin R		G		3,4403	6.2+/-15.9	0,3,2200	174.0	154.0	161.0		48	-11.1	0.5	1	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	TNR	NM_003285.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		16/1359	175375803	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375803G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.48C>T	1.37:g.175375803G>A						TNR_ENST00000263525.2_Silent_p.G16G	p.G16G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	756	-	Renal(580;0.146)		16					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.48C>T	CCDS1318.1																																																																																				0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		59	641	0	0	0	1	0	59	641				
PIK3C2B	5287	broad.mit.edu	37	1	204402964	204402964	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204402964A>C	ENST00000367187.3	-	26	4356	c.3800T>G	c.(3799-3801)cTc>cGc	p.L1267R	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1267	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTGCGAATGAGGTTGTAGGC	0.502																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3799-3801)cTc>cGc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							180.0	163.0	169.0					1																	204402964		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204402964A>C	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3800T>G	1.37:g.204402964A>C	ENSP00000356155:p.Leu1267Arg					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R|RP11-739N20.2_ENST00000443515.1_RNA	p.L1267R	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		26	4356	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1267			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3800T>G	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688735	0.68271	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	D;D	0.82081	-1.57;-1.57	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.072137	0.56097	D	0.000027	D	0.87853	0.6282	L	0.47716	1.5	0.49915	D	0.999835	B;D	0.64830	0.002;0.994	B;D	0.65573	0.017;0.936	D	0.88456	0.3052	10	0.59425	D	0.04	.	15.9741	0.80044	1.0:0.0:0.0:0.0	.	1239;1267	F5GWN5;O00750	.;P3C2B_HUMAN	R	1267;45;1239	ENSP00000356155:L1267R;ENSP00000400561:L1239R	ENSP00000356155:L1267R	L	-	2	0	PIK3C2B	202669587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.236000	0.78154	2.246000	0.74042	0.533000	0.62120	CTC		0.502	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		166	885	0	0	0	1	0	166	885				
TSGA10	80705	broad.mit.edu	37	2	99722093	99722093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99722093G>A	ENST00000393483.3	-	8	1122	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	93					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.T93M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGCATGTGCCGTTGTTGATTT	0.413																																						ENST00000393483.3																			1	Substitution - Missense(1)	p.T93M(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(277-279)aCg>aTg		testis specific, 10							238.0	229.0	232.0					2																	99722093		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99722093G>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.278C>T	2.37:g.99722093G>A	ENSP00000377123:p.Thr93Met					TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M|TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M	p.T93M	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			8	1122	-			93					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.278C>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271194	0.80469	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.75;0.73	4.99	4.99	0.66335	.	0.104336	0.42821	D	0.000649	T	0.61085	0.2319	L	0.44542	1.39	0.39356	D	0.965848	D;D	0.89917	1.0;1.0	D;D	0.71870	0.96;0.975	T	0.62364	-0.6870	10	0.49607	T	0.09	-14.2659	17.049	0.86513	0.0:0.0:1.0:0.0	.	93;93	B7Z925;Q9BZW7	.;TSG10_HUMAN	M	93	ENSP00000377123:T93M;ENSP00000386956:T93M;ENSP00000347161:T93M;ENSP00000444419:T93M;ENSP00000386508:T93M;ENSP00000377122:T93M	ENSP00000347161:T93M	T	-	2	0	TSGA10	99088525	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.481000	0.81124	2.601000	0.87937	0.650000	0.86243	ACG		0.413	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		262	765	0	0	0	1	0	262	765				
IRX6	79190	broad.mit.edu	37	16	55361564	55361564	+	Silent	SNP	A	A	G	rs148248438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361564A>G	ENST00000290552.7	+	4	1812	c.480A>G	c.(478-480)acA>acG	p.T160T	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	160					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCAGTACACTCAAGGCCT	0.572																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(478-480)acA>acG		iroquois homeobox 6							105.0	79.0	88.0					16																	55361564		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361564A>G	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.480A>G	16.37:g.55361564A>G						IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	p.T160T	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			4	1812	+			160					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.480A>G	CCDS32449.1																																																																																				0.572	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		51	203	0	0	0	1	0	51	203				
NBPF14	25832	broad.mit.edu	37	1	148009417	148009417	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148009417G>T	ENST00000369219.1	-	16	1906	c.1890C>A	c.(1888-1890)gaC>gaA	p.D630E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	630	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCTGGCATGAGTCAGTCAGTT	0.483																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1888-1890)gaC>gaA		neuroblastoma breakpoint family, member 14							107.0	217.0	185.0					1																	148009417		1681	4055	5736	SO:0001583	missense	25832					cytoplasm		g.chr1:148009417G>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1890C>A	1.37:g.148009417G>T	ENSP00000358221:p.Asp630Glu						p.D630E			Q5TI25	NBPFE_HUMAN			16	1906	-	all_hematologic(923;0.032)		630			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1890C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.08|10.08	1.253160|1.253160	0.22965|0.22965	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000434489|ENST00000310701	T|.	0.08102|.	3.13|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.36331|0.36331	0.0963|0.0963	M|M	0.76002|0.76002	2.32|2.32	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29852|0.29852	-0.9998|-0.9998	4|2	0.27785|.	T|.	0.31|.	.|.	.|.	.|.	.|.	.|.	630|.	Q5TI25|.	NBPFE_HUMAN|.	E|N	630;220|636	ENSP00000358221:D630E|.	ENSP00000358221:D630E|.	D|T	-|-	3|2	2|0	NBPF14|NBPF14	146476041|146476041	0.929000|0.929000	0.31497|0.31497	.|.	.|.	.|.	.|.	0.748000|0.748000	0.26305|0.26305	.|.	.|.	.|.	.|.	GAC|ACT		0.483	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		27	1611	1	0	7.93312e-07	1	8.20014e-07	27	1611				
ADAM15	8751	broad.mit.edu	37	1	155028286	155028286	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155028286G>A	ENST00000356955.2	+	7	734	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000368412.3_Silent_p.E211E	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	211					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTAACAGAGACCAAGACTG	0.592																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(631-633)gaG>gaA		ADAM metallopeptidase domain 15							176.0	159.0	164.0					1																	155028286		2203	4300	6503	SO:0001819	synonymous_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155028286G>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.633G>A	1.37:g.155028286G>A						ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000368412.3_Silent_p.E211E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000355956.2_Silent_p.E211E	p.E211E	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		7	734	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		211					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.633G>A	CCDS1087.1																																																																																				0.592	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		13	564	0	0	0	1	0	13	564				
TRIM32	22954	broad.mit.edu	37	9	119461253	119461253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461253C>T	ENST00000450136.1	+	2	1393	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	411					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCCGCAGCCCCAGTGGCATT	0.512																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1231-1233)cCc>cTc		tripartite motif containing 32							109.0	116.0	114.0					9																	119461253		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461253C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1232C>T	9.37:g.119461253C>T	ENSP00000408292:p.Pro411Leu					TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	p.P411L	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1393	+			411					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1232C>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843637	0.51164	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.91295	-2.82;-2.82	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.145392	0.46442	D	0.000287	D	0.84329	0.5448	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78513	-0.2175	9	.	.	.	-12.8032	19.3288	0.94275	0.0:1.0:0.0:0.0	.	411	Q13049	TRI32_HUMAN	L	411	ENSP00000408292:P411L;ENSP00000363095:P411L	.	P	+	2	0	TRIM32	118501074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.551000	0.86045	0.650000	0.86243	CCC		0.512	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		191	735	0	0	0	1	0	191	735				
LINGO4	339398	broad.mit.edu	37	1	151775194	151775194	+	Splice_Site	SNP	C	C	A	rs561612887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775194C>A	ENST00000368820.3	-	2	925		c.e2-1			NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4							integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTTCAGTCCTGGAATAGAT	0.562																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.e2-1		leucine rich repeat and Ig domain containing 4							6.0	6.0	6.0					1																	151775194		2000	3946	5946	SO:0001630	splice_region_variant	339398					integral to membrane		g.chr1:151775194C>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.13-1G>T	1.37:g.151775194C>A								NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	925	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)								Splice_Site	SNP	ENST00000368820.3	37		CCDS30855.1																																																																																				0.562	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387	Intron	12	30	1	0	5.50884e-06	1	5.65664e-06	12	30				
F2RL3	9002	broad.mit.edu	37	19	17001352	17001352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17001352C>A	ENST00000248076.3	+	2	1408	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	360					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAACGGTCGCCGGGGGACAC	0.647																																						ENST00000248076.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(1078-1080)Ccg>Acg		coagulation factor II (thrombin) receptor-like 3							22.0	21.0	22.0					19																	17001352		2200	4298	6498	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17001352C>A	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1078C>A	19.37:g.17001352C>A	ENSP00000248076:p.Pro360Thr						p.P360T	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN			2	1408	+			360					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.1078C>A	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701811	0.30232	.	.	ENSG00000127533	ENST00000248076	T	0.57436	0.4	4.15	1.75	0.24633	.	0.781535	0.10545	U	0.662160	T	0.35998	0.0951	L	0.27053	0.805	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.20840	-1.0263	10	0.14252	T	0.57	.	9.728	0.40344	0.6634:0.3366:0.0:0.0	.	360	Q96RI0	PAR4_HUMAN	T	360	ENSP00000248076:P360T	ENSP00000248076:P360T	P	+	1	0	F2RL3	16862352	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.489000	0.22387	0.676000	0.31285	0.491000	0.48974	CCG		0.647	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			17	67	1	0	3.45872e-05	1	3.53336e-05	17	67				
C1orf141	400757	broad.mit.edu	37	1	67558913	67558913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67558913T>G	ENST00000371007.2	-	8	1087	c.978A>C	c.(976-978)aaA>aaC	p.K326N	C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N|C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	326										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CCACAAATTGTTTTGTTAGGC	0.328																																						ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(976-978)aaA>aaC		chromosome 1 open reading frame 141							90.0	93.0	92.0					1																	67558913		2203	4300	6503	SO:0001583	missense	400757							g.chr1:67558913T>G	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.978A>C	1.37:g.67558913T>G	ENSP00000360046:p.Lys326Asn					C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N|C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N	p.K326N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			8	1087	-			326					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.978A>C	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660596	0.29515	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.48201	0.82;0.82;0.82	4.56	2.03	0.26663	.	0.667620	0.13397	N	0.390906	T	0.17492	0.0420	L	0.32530	0.975	0.09310	N	1	P	0.39250	0.665	B	0.39805	0.31	T	0.08953	-1.0697	10	0.72032	D	0.01	-5.4976	4.0586	0.09827	0.0:0.1103:0.2124:0.6773	.	326	Q5JVX7	CA141_HUMAN	N	326	ENSP00000360046:K326N;ENSP00000360045:K326N;ENSP00000444018:K326N	ENSP00000360045:K326N	K	-	3	2	C1orf141	67331501	0.337000	0.24766	0.006000	0.13384	0.007000	0.05969	0.712000	0.25779	0.847000	0.35167	0.533000	0.62120	AAA		0.328	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		58	471	0	0	0	1	0	58	471				
FYCO1	79443	broad.mit.edu	37	3	46008506	46008506	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008506A>G	ENST00000296137.2	-	8	2525	c.2320T>C	c.(2320-2322)Tct>Cct	p.S774P	FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	774					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCGCCTGAGACAGGGCTAGC	0.632																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2320-2322)Tct>Cct		FYVE and coiled-coil domain containing 1							55.0	56.0	56.0					3																	46008506		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008506A>G	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2320T>C	3.37:g.46008506A>G	ENSP00000296137:p.Ser774Pro					FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	p.S774P	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2525	-			774					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2320T>C	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209595	0.22289	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21543	2.0;2.0	5.55	-0.343	0.12632	.	0.902870	0.09603	N	0.779956	T	0.17450	0.0419	L	0.43152	1.355	0.09310	N	1	P;B	0.36086	0.536;0.403	B;B	0.37198	0.243;0.086	T	0.26395	-1.0104	10	0.35671	T	0.21	-0.2682	8.0651	0.30657	0.382:0.4815:0.0:0.1365	.	774;774	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	P	774	ENSP00000296137:S774P;ENSP00000441178:S774P	ENSP00000296137:S774P	S	-	1	0	FYCO1	45983510	0.000000	0.05858	0.480000	0.27341	0.566000	0.35808	0.052000	0.14163	0.355000	0.24131	0.533000	0.62120	TCT		0.632	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		82	348	0	0	0	1	0	82	348				
MED13	9969	broad.mit.edu	37	17	60042453	60042453	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60042453C>T	ENST00000397786.2	-	20	4834	c.4758G>A	c.(4756-4758)ggG>ggA	p.G1586G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1586					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGTCTGTTGCCCTCCTAGCT	0.453																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4756-4758)ggG>ggA		mediator complex subunit 13							95.0	94.0	94.0					17																	60042453		2001	4181	6182	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60042453C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4758G>A	17.37:g.60042453C>T							p.G1586G	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			20	4834	-			1586					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.4758G>A	CCDS42366.1																																																																																				0.453	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		51	210	0	0	0	1	0	51	210				
AGER	177	broad.mit.edu	37	6	32149346	32149346	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32149346C>T	ENST00000375076.4	-	9	1093				AGER_ENST00000375069.3_Intron|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375065.5_Intron|AGER_ENST00000375055.2_Missense_Mutation_p.S343N|AGER_ENST00000438221.2_Missense_Mutation_p.S359N|AGER_ENST00000375070.3_Intron|AGER_ENST00000375067.3_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor						cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GTGTTGGGGGCTATCTTCTGC	0.532																																						ENST00000375055.2																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(1027-1029)aGc>aAc		advanced glycosylation end product-specific receptor							91.0	90.0	91.0					6																	32149346		1510	2709	4219	SO:0001627	intron_variant	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32149346C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.991+36G>A	6.37:g.32149346C>T						AGER_ENST00000375070.3_Intron|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375065.5_Intron|AGER_ENST00000375067.3_Intron|AGER_ENST00000375076.4_Intron|AGER_ENST00000375069.3_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.S359N	p.S343N	NM_001206934.1|NM_001206936.1|NM_001206940.1|NM_001206954.1|NM_001206966.1	NP_001193863.1|NP_001193865.1|NP_001193869.1|NP_001193883.1|NP_001193895.1	Q15109	RAGE_HUMAN			9	1051	-			0					A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.1028G>A	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987435	0.53934	.	.	ENSG00000204305	ENST00000375055;ENST00000438221	T;T	0.59772	0.24;2.01	2.98	2.05	0.26809	.	.	.	.	.	T	0.14442	0.0349	L	0.29908	0.895	0.09310	N	1	B;B	0.27700	0.186;0.117	B;B	0.14578	0.011;0.005	T	0.31392	-0.9945	9	0.02654	T	1	.	8.6932	0.34280	0.0:0.7356:0.2644:0.0	.	343;359	Q15109-3;Q3L1R7	.;.	N	343;359	ENSP00000364195:S343N;ENSP00000387887:S359N	ENSP00000364195:S343N	S	-	2	0	AGER	32257324	0.086000	0.21541	0.001000	0.08648	0.475000	0.33008	0.619000	0.24388	0.461000	0.27071	0.544000	0.68410	AGC		0.532	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		29	362	0	0	0	1	0	29	362				
FN1	2335	broad.mit.edu	37	2	216292951	216292951	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216292951C>A	ENST00000359671.1	-	6	1061	c.796G>T	c.(796-798)Gga>Tga	p.G266*	FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000354785.4_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*			P02751	FINC_HUMAN	fibronectin 1	266	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTCCACTCTCCTCGGCCGTTG	0.552																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(796-798)Gga>Tga		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	108.0	114.0					2																	216292951		2203	4300	6503	SO:0001587	stop_gained	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216292951C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.796G>T	2.37:g.216292951C>A	ENSP00000352696:p.Gly266*					FN1_ENST00000359671.1_Nonsense_Mutation_p.G266*|FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*|FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*	p.G266*			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1165	-		Renal(323;0.127)	266			Fibrin- and heparin-binding 1.|Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	ENST00000359671.1	37	c.796G>T		.	.	.	.	.	.	.	.	.	.	C	41	9.094722	0.99064	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000265313:G266X	G	-	1	0	FN1	216001196	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GGA		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		78	346	1	0	5.72124e-26	1	6.58255e-26	78	346				
ULK4	54986	broad.mit.edu	37	3	41939937	41939937	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41939937T>C	ENST00000301831.4	-	14	1797	c.1335A>G	c.(1333-1335)ctA>ctG	p.L445L	U8_ENST00000390843.2_RNA|ULK4_ENST00000420927.1_Silent_p.L445L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	445					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATATGTTGGTAGATGCAATA	0.284																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1333-1335)ctA>ctG		unc-51 like kinase 4							133.0	140.0	138.0					3																	41939937		2186	4291	6477	SO:0001819	synonymous_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41939937T>C	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1335A>G	3.37:g.41939937T>C						ULK4_ENST00000420927.1_Silent_p.L445L	p.L445L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	14	1797	-			445					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	37	c.1335A>G	CCDS43071.1																																																																																				0.284	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		103	378	0	0	0	1	0	103	378				
SYMPK	8189	broad.mit.edu	37	19	46345746	46345746	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46345746G>A	ENST00000245934.7	-	9	1093	c.849C>T	c.(847-849)gcC>gcT	p.A283A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	283					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGCAGGTTGGCTGTGAGGA	0.557																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.e9-1		symplekin							55.0	56.0	56.0					19																	46345746		2203	4300	6503	SO:0001630	splice_region_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345746G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.848-1C>T	19.37:g.46345746G>A							p.A283_splice	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1093	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	283					O00521|O00689|O00733|Q59GT5|Q8N2U5	Splice_Site	SNP	ENST00000245934.7	37	c.847_splice	CCDS12676.2																																																																																				0.557	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	Silent	71	351	0	0	0	1	0	71	351				
IGSF21	84966	broad.mit.edu	37	1	18691979	18691979	+	Missense_Mutation	SNP	C	C	T	rs538117555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18691979C>T	ENST00000251296.1	+	6	1186	c.803C>T	c.(802-804)aCg>aTg	p.T268M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	268						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATACCAGAGACGGTCGTGAGC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17509	0.001		0.0	False		,,,				2504	0.0					ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(802-804)aCg>aTg		immunoglobin superfamily, member 21							114.0	119.0	118.0					1																	18691979		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18691979C>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.803C>T	1.37:g.18691979C>T	ENSP00000251296:p.Thr268Met						p.T268M	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1186	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	268					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.803C>T	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176491	0.78564	.	.	ENSG00000117154	ENST00000251296	T	0.59224	0.28	4.28	4.28	0.50868	.	0.151120	0.64402	D	0.000016	T	0.61123	0.2322	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	T	0.63769	-0.6562	10	0.49607	T	0.09	-3.8792	15.7859	0.78304	0.0:1.0:0.0:0.0	.	268	Q96ID5	IGS21_HUMAN	M	268	ENSP00000251296:T268M	ENSP00000251296:T268M	T	+	2	0	IGSF21	18564566	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.953000	0.75995	2.383000	0.81215	0.561000	0.74099	ACG		0.657	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		82	804	0	0	0	1	0	82	804				
ANLN	54443	broad.mit.edu	37	7	36489433	36489433	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36489433C>A	ENST00000265748.2	+	23	3459	c.3238C>A	c.(3238-3240)Ctc>Atc	p.L1080I	ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1080	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGGACACACTCTGTGTTAC	0.393																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(3238-3240)Ctc>Atc		anillin, actin binding protein							85.0	79.0	81.0					7																	36489433		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36489433C>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3238C>A	7.37:g.36489433C>A	ENSP00000265748:p.Leu1080Ile					ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	p.L1080I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			23	3459	+			1080			Localization to the cleavage furrow.|PH.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.3238C>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911644	0.72983	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.13538	2.58;2.6	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.121557	0.56097	D	0.000025	T	0.26702	0.0653	N	0.25890	0.77	0.54753	D	0.999981	D;P;P;P	0.67145	0.996;0.631;0.577;0.631	D;P;B;P	0.80764	0.994;0.579;0.443;0.579	T	0.01301	-1.1391	10	0.44086	T	0.13	-8.1585	18.4774	0.90798	0.0:1.0:0.0:0.0	.	957;1042;1043;1080	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	I	1080;1043	ENSP00000265748:L1080I;ENSP00000379380:L1043I	ENSP00000265748:L1080I	L	+	1	0	ANLN	36455958	0.906000	0.30813	0.923000	0.36655	0.973000	0.67179	1.935000	0.40173	2.665000	0.90641	0.655000	0.94253	CTC		0.393	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		58	228	1	0	8.72158e-25	1	9.98758e-25	58	228				
TTN	7273	broad.mit.edu	37	2	179474553	179474553	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474553T>C	ENST00000591111.1	-	222	46898	c.46674A>G	c.(46672-46674)gaA>gaG	p.E15558E	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.E8259E|TTN_ENST00000460472.2_Silent_p.E8134E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.E17199E|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15558	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTACCAGGTGTTCATTGCATC	0.468																																						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.(51595-51597)gaA>gaG		titin							456.0	433.0	440.0					2																	179474553		1928	4144	6072	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474553T>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.46674A>G	2.37:g.179474553T>C						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.E8259E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.E8134E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.E15558E	p.E17199E	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)		272	51821	-			15558			Fibronectin type-III 24.		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.51597A>G																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		208	1990	0	0	0	1	0	208	1990				
ZNF407	55628	broad.mit.edu	37	18	72775187	72775187	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775187C>T	ENST00000299687.5	+	8	5510	c.5510C>T	c.(5509-5511)gCg>gTg	p.A1837V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCACCGCGGCGGCCTTGGCA	0.617																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5509-5511)gCg>gTg		zinc finger protein 407							88.0	103.0	98.0					18																	72775187		2067	4199	6266	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775187C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5510C>T	18.37:g.72775187C>T	ENSP00000299687:p.Ala1837Val						p.A1837V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5510	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1837					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5510C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986701	0.35036	.	.	ENSG00000215421	ENST00000299687	T	0.11930	2.73	4.97	3.19	0.36642	.	.	.	.	.	T	0.06416	0.0165	L	0.27053	0.805	0.09310	N	0.999998	P	0.50710	0.938	B	0.33890	0.172	T	0.36696	-0.9737	9	0.05721	T	0.95	.	9.8525	0.41066	0.0:0.8462:0.0:0.1538	.	1837	Q9C0G0	ZN407_HUMAN	V	1837	ENSP00000299687:A1837V	ENSP00000299687:A1837V	A	+	2	0	ZNF407	70904175	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	5.516000	0.67055	-0.759000	0.04684	-2.034000	0.00421	GCG		0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		24	964	0	0	0	1	0	24	964				
AKAP12	9590	broad.mit.edu	37	6	151671445	151671445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151671445G>A	ENST00000253332.1	+	3	2108	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	AKAP12_ENST00000402676.2_Missense_Mutation_p.S640N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N|AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	640					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGGTCAAGAGCGCTACCTTG	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1918-1920)aGc>aAc		A kinase (PRKA) anchor protein 12							80.0	76.0	77.0					6																	151671445		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671445G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1919G>A	6.37:g.151671445G>A	ENSP00000253332:p.Ser640Asn					AKAP12_ENST00000253332.1_Missense_Mutation_p.S640N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N|AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N	p.S640N	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2159	+		Ovarian(120;0.125)	640					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.1919G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269256	0.80469	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.15603	2.41;2.41;2.43;2.43	5.52	5.52	0.82312	.	0.000000	0.47093	D	0.000244	T	0.33265	0.0857	M	0.73962	2.25	0.42414	D	0.992611	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.989	T	0.03969	-1.0988	10	0.54805	T	0.06	.	14.6536	0.68817	0.0:0.1452:0.8548:0.0	.	535;542;640	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	640;640;542;535	ENSP00000384537:S640N;ENSP00000253332:S640N;ENSP00000346702:S542N;ENSP00000352794:S535N	ENSP00000253332:S640N	S	+	2	0	AKAP12	151713138	0.998000	0.40836	0.872000	0.34217	0.818000	0.46254	2.910000	0.48766	2.591000	0.87537	0.650000	0.86243	AGC		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			9	208	0	0	0	1	0	9	208				
AHDC1	27245	broad.mit.edu	37	1	27876902	27876902	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27876902T>C	ENST00000247087.5	-	5	2321	c.1725A>G	c.(1723-1725)gcA>gcG	p.A575A	AHDC1_ENST00000374011.2_Silent_p.A575A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	575							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGTGGCCGCTGCCACAGTGG	0.637																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1723-1725)gcA>gcG		AT hook, DNA binding motif, containing 1							31.0	31.0	31.0					1																	27876902		2200	4297	6497	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27876902T>C	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1725A>G	1.37:g.27876902T>C						AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.A575A	p.A575A	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2693	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	575					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.1725A>G	CCDS30652.1																																																																																				0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			58	243	0	0	0	1	0	58	243				
CACNA1D	776	broad.mit.edu	37	3	53699719	53699719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53699719G>A	ENST00000350061.5	+	6	1310	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A267T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	267					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATTATAAAAGCCATGGTTCC	0.333																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(799-801)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						138.0	139.0	139.0					3																	53699719		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53699719G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.799G>A	3.37:g.53699719G>A	ENSP00000288133:p.Ala267Thr					CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A267T	p.A267T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	6	917	+			267					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.799G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234915	0.95207	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98512	-4.97;-4.97;-4.97	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98982	0.9653	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.996	D	0.99819	1.1046	10	0.87932	D	0	.	18.6572	0.91458	0.0:0.0:1.0:0.0	.	267;267;267	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	T	267	ENSP00000288133:A267T;ENSP00000288139:A267T;ENSP00000409174:A267T	ENSP00000288139:A267T	A	+	1	0	CACNA1D	53674759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.630000	0.89119	0.655000	0.94253	GCC		0.333	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		83	455	0	0	0	1	0	83	455				
FAM50B	26240	broad.mit.edu	37	6	3850321	3850321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3850321G>T	ENST00000380274.1	+	1	702	c.276G>T	c.(274-276)caG>caT	p.Q92H	FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	92						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCAAGCGCCAGCACCTGGAGG	0.682																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(274-276)caG>caT		family with sequence similarity 50, member B							12.0	17.0	15.0					6																	3850321		2197	4287	6484	SO:0001583	missense	26240					nucleus		g.chr6:3850321G>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.276G>T	6.37:g.3850321G>T	ENSP00000369627:p.Gln92His					FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H	p.Q92H			Q9Y247	FA50B_HUMAN			1	702	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	92					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.276G>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232500	0.22626	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.4	0.595	0.17490	.	0.124634	0.52532	D	0.000069	T	0.25901	0.0631	N	0.24115	0.695	0.32716	N	0.510942	P	0.38370	0.628	P	0.50314	0.637	T	0.13629	-1.0502	9	0.52906	T	0.07	-9.468	8.009	0.30342	0.3786:0.0:0.6214:0.0	.	92	Q9Y247	FA50B_HUMAN	H	92	.	ENSP00000369625:Q92H	Q	+	3	2	FAM50B	3795320	1.000000	0.71417	0.805000	0.32314	0.035000	0.12851	2.188000	0.42612	0.230000	0.21059	0.485000	0.47835	CAG		0.682	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		18	86	1	0	1.99824e-07	1	2.07512e-07	18	86				
EPHA5	2044	broad.mit.edu	37	4	66356119	66356119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356119C>T	ENST00000273854.3	-	5	1978	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I|EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	460	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTACATTTACAGACACATAC	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1378-1380)Gta>Ata		EPH receptor A5							83.0	67.0	72.0					4																	66356119		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356119C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1378G>A	4.37:g.66356119C>T	ENSP00000273854:p.Val460Ile	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I	p.V460I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1978	-			460					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1378G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790228	0.50102	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.55234	0.53;0.53;0.53	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.53938	D	0.000049	T	0.60090	0.2242	L	0.46157	1.445	0.42608	D	0.993307	B;B;P;B	0.36330	0.413;0.017;0.548;0.129	B;B;P;B	0.46237	0.311;0.027;0.508;0.026	T	0.52381	-0.8583	10	0.35671	T	0.21	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	460;460;460;460	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	I	460	ENSP00000273854:V460I;ENSP00000346899:V460I;ENSP00000427638:V460I	ENSP00000273854:V460I	V	-	1	0	EPHA5	66038714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.904000	0.56325	2.894000	0.99253	0.591000	0.81541	GTA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		59	252	0	0	0	1	0	59	252				
SAMD9L	219285	broad.mit.edu	37	7	92763168	92763168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92763168G>T	ENST00000318238.4	-	5	3333	c.2117C>A	c.(2116-2118)tCt>tAt	p.S706Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	706					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAATCTGAAGAATAGTTTTC	0.323																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2116-2118)tCt>tAt		sterile alpha motif domain containing 9-like							52.0	55.0	54.0					7																	92763168		2200	4294	6494	SO:0001583	missense	219285							g.chr7:92763168G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2117C>A	7.37:g.92763168G>T	ENSP00000326247:p.Ser706Tyr					SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y	p.S706Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3333	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		706					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.2117C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680810	0.47886	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25085	1.82;1.82;1.82	4.55	4.55	0.56014	.	0.482216	0.19226	N	0.119549	T	0.41442	0.1159	M	0.63843	1.955	0.29057	N	0.884132	P	0.46142	0.873	P	0.54026	0.74	T	0.33059	-0.9883	10	0.72032	D	0.01	-9.738	13.7229	0.62740	0.0:0.1554:0.8446:0.0	.	706	Q8IVG5	SAM9L_HUMAN	Y	706	ENSP00000326247:S706Y;ENSP00000405760:S706Y;ENSP00000408796:S706Y	ENSP00000326247:S706Y	S	-	2	0	SAMD9L	92601104	0.961000	0.32948	1.000000	0.80357	0.864000	0.49448	2.549000	0.45803	2.372000	0.80975	0.467000	0.42956	TCT		0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		101	315	1	0	2.73867e-56	1	3.42633e-56	101	315				
WFDC3	140686	broad.mit.edu	37	20	44405742	44405742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44405742G>A	ENST00000243938.4	-	5	548	c.465C>T	c.(463-465)ggC>ggT	p.G155G	WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron|RNU6ATAC38P_ENST00000408119.1_RNA|WFDC3_ENST00000372632.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	155	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGCAGGTGCGGCCACAGCCGG	0.562																																						ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(463-465)ggC>ggT		WAP four-disulfide core domain 3							60.0	52.0	55.0					20																	44405742		2203	4300	6503	SO:0001819	synonymous_variant	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44405742G>A	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.465C>T	20.37:g.44405742G>A						WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_Intron	p.G155G	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN			5	548	-		Myeloproliferative disorder(115;0.0122)	155			WAP 3.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Silent	SNP	ENST00000243938.4	37	c.465C>T	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278801	0.10458	.	.	ENSG00000124116	ENST00000337205	.	.	.	4.62	-5.88	0.02290	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.44966	D	0.99798	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-18.3447	0.1543	0.00096	0.3196:0.237:0.2028:0.2406	.	.	.	.	V	149	.	.	A	-	2	0	WFDC3	43839149	0.017000	0.18338	0.095000	0.20976	0.737000	0.42083	-1.363000	0.02592	-0.847000	0.04168	-0.137000	0.14449	GCC		0.562	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			53	206	0	0	0	1	0	53	206				
SMARCA4	6597	broad.mit.edu	37	19	11152114	11152114	+	Silent	SNP	C	C	T	rs146747026	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11152114C>T	ENST00000429416.3	+	31	4583	c.4302C>T	c.(4300-4302)gaC>gaT	p.D1434D	SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Silent_p.D1466D|SMARCA4_ENST00000344626.4_Silent_p.D1434D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000589677.1_Silent_p.D1404D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1434					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGACAAGGACGACGAGAGCA	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4396-4398)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		C	,,,,,,	0,4404		0,0,2202	43.0	47.0	46.0		4302,4212,4212,4203,4203,4398,4302	-3.7	1.0	19	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMARCA4	NM_001128844.1,NM_001128845.1,NM_001128846.1,NM_001128847.1,NM_001128848.1,NM_001128849.1,NM_003072.3	,,,,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	1434/1648,1404/1618,1404/1617,1401/1615,1401/1614,1466/1680,1434/1648	11152114	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11152114C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4302C>T	19.37:g.11152114C>T						SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000589677.1_Silent_p.D1404D|SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000429416.3_Silent_p.D1434D|SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000344626.4_Silent_p.D1434D	p.D1466D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			31	4682	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1434					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4398C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223480	0.22457	0.0	1.16E-4	ENSG00000127616	ENST00000538456	.	.	.	4.44	-3.66	0.04489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-42.7996	6.6399	0.22903	0.0:0.3788:0.126:0.4952	.	.	.	.	X	206	.	.	R	+	1	2	SMARCA4	11013114	0.000000	0.05858	0.987000	0.45799	0.959000	0.62525	-1.961000	0.01516	-0.370000	0.08016	-0.363000	0.07495	CGA		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		41	173	0	0	0	1	0	41	173				
SYNE2	23224	broad.mit.edu	37	14	64518467	64518467	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518467G>T	ENST00000344113.4	+	48	8048	c.7836G>T	c.(7834-7836)caG>caT	p.Q2612H	SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2645H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q2612H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2612					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTGGAACAGCAGATTCAAA	0.398																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7834-7836)caG>caT		spectrin repeat containing, nuclear envelope 2							103.0	98.0	100.0					14																	64518467		1907	4121	6028	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518467G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7836G>T	14.37:g.64518467G>T	ENSP00000341781:p.Gln2612His					SYNE2_ENST00000344113.4_Missense_Mutation_p.Q2612H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2645H	p.Q2612H	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8066	+			2612					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7836G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	0.133	-1.111435	0.01813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58358	1.27;1.27;0.34	5.91	-11.5	0.00074	.	0.216802	0.32386	N	0.006174	T	0.32763	0.0840	L	0.34521	1.04	0.58432	D	0.999992	B;B	0.24368	0.062;0.102	B;B	0.25759	0.028;0.063	T	0.37079	-0.9721	10	0.46703	T	0.11	.	14.6757	0.68978	0.2302:0.2164:0.5534:0.0	.	2612;2612	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2612;2612;2645;2645	ENSP00000350719:Q2612H;ENSP00000341781:Q2612H;ENSP00000452570:Q2645H	ENSP00000261678:Q2645H	Q	+	3	2	SYNE2	63588220	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-3.055000	0.00626	-2.273000	0.00681	-1.053000	0.02334	CAG		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		70	369	1	0	7.07328e-35	1	8.4269e-35	70	369				
PCSK4	54760	broad.mit.edu	37	19	1486949	1486949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1486949C>A	ENST00000300954.5	-	8	1032	c.971G>T	c.(970-972)aGc>aTc	p.S324I	PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGTGGTGCTGCCCACGGA	0.672																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(970-972)aGc>aTc		proprotein convertase subtilisin/kexin type 4							84.0	70.0	75.0					19																	1486949		2203	4300	6503	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1486949C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.971G>T	19.37:g.1486949C>A	ENSP00000300954:p.Ser324Ile						p.S324I	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1032	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	324			Catalytic (By similarity).			Missense_Mutation	SNP	ENST00000300954.5	37	c.971G>T	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522650	0.64747	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.83419	-1.72	2.71	2.71	0.32032	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.64402	U	0.000013	D	0.93539	0.7938	H	0.97315	3.98	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94710	0.7891	10	0.87932	D	0	.	12.2145	0.54398	0.0:1.0:0.0:0.0	.	324;136	Q6UW60;B3KQ28	PCSK4_HUMAN;.	I	324;136	ENSP00000300954:S324I	ENSP00000300954:S324I	S	-	2	0	PCSK4	1437949	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	4.703000	0.61824	1.221000	0.43506	0.313000	0.20887	AGC		0.672	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		88	364	1	0	4.02937e-33	1	4.77023e-33	88	364				
OSBPL9	114883	broad.mit.edu	37	1	52254946	52254946	+	IGR	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52254946T>G	ENST00000428468.1	+	0	2893				NRD1_ENST00000539524.1_Missense_Mutation_p.T1076P|NRD1_ENST00000352171.7_Missense_Mutation_p.T1140P|NRD1_ENST00000354831.7_Missense_Mutation_p.T1208P|NRD1_ENST00000485608.1_5'UTR			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AGGTTGAGTGTTGTTGTGAAA	0.398																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(3622-3624)Aca>Cca		nardilysin (N-arginine dibasic convertase)							164.0	153.0	157.0					1																	52254946		2203	4300	6503	SO:0001628	intergenic_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52254946T>G	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52254946T>G						NRD1_ENST00000352171.7_Missense_Mutation_p.T1140P|NRD1_ENST00000539524.1_Missense_Mutation_p.T1076P|NRD1_ENST00000485608.1_5'UTR	p.T1208P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			33	3811	-			1139					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.3622A>C	CCDS41332.3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.08|13.08|13.08	2.130634|2.130634|2.130634	0.37630|0.37630|0.37630	.|.|.	.|.|.	ENSG00000078618|ENSG00000078618|ENSG00000078618	ENST00000440943|ENST00000546169|ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665	.|.|T;T;T	.|.|0.32988	.|.|1.43;1.44;1.43	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|.	.|.|0.347388	.|.|0.34777	.|.|N	.|.|0.003685	T|T|T	0.22666|0.22666|0.22666	0.0547|0.0547|0.0547	N|N|N	0.25647|0.25647|0.25647	0.755|0.755|0.755	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B	.|.|0.17038	.|.|0.009;0.02	.|.|B;B	.|.|0.12156	.|.|0.005;0.007	T|T|T	0.03829|0.03829|0.03829	-1.1000|-1.1000|-1.1000	5|6|10	.|0.72032|0.46703	.|D|T	.|0.01|0.11	-0.2449|-0.2449|-0.2449	11.2735|11.2735|11.2735	0.49153|0.49153|0.49153	0.0:0.0:0.1525:0.8475|0.0:0.0:0.1525:0.8475|0.0:0.0:0.1525:0.8475	.|.|.	.|.|1139;1208	.|.|O43847;B1AKJ5	.|.|NRDC_HUMAN;.	T|H|P	526|1139|1140;1208;1076;542	.|.|ENSP00000262679:T1140P;ENSP00000346890:T1208P;ENSP00000444416:T1076P	.|ENSP00000437424:Q1139H|ENSP00000262679:T1140P	N|Q|T	-|-|-	2|3|1	0|2|0	NRD1|NRD1|NRD1	52027534|52027534|52027534	0.294000|0.294000|0.294000	0.24380|0.24380|0.24380	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	0.592000|0.592000|0.592000	0.23984|0.23984|0.23984	2.202000|2.202000|2.202000	0.70862|0.70862|0.70862	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	AAC|CAA|ACA		0.398	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			89	358	0	0	0	1	0	89	358				
KIF21B	23046	broad.mit.edu	37	1	200974440	200974440	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200974440T>C	ENST00000422435.2	-	5	1044	c.728A>G	c.(727-729)gAc>gGc	p.D243G	KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G|KIF21B_ENST00000332129.2_Missense_Mutation_p.D243G|KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	243	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCACCAGGTCGGGCTGGGT	0.622																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(727-729)gAc>gGc		kinesin family member 21B							55.0	53.0	54.0					1																	200974440		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200974440T>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.728A>G	1.37:g.200974440T>C	ENSP00000411831:p.Asp243Gly					KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G|KIF21B_ENST00000422435.2_Missense_Mutation_p.D243G|KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G	p.D243G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			5	1044	-			243			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.728A>G	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664022	0.47572	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.17	1.55	0.23275	Kinesin, motor domain (4);	0.390814	0.28977	N	0.013533	T	0.54951	0.1890	N	0.14661	0.345	0.52501	D	0.99995	B;B;B;B	0.23185	0.081;0.081;0.0;0.066	B;B;B;B	0.24269	0.052;0.052;0.001;0.031	T	0.45760	-0.9239	10	0.72032	D	0.01	.	8.1806	0.31309	0.0:0.3035:0.0:0.6965	.	243;243;243;243	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	243	ENSP00000328494:D243G;ENSP00000353724:D243G;ENSP00000433808:D243G;ENSP00000411831:D243G	ENSP00000328494:D243G	D	-	2	0	KIF21B	199241063	1.000000	0.71417	0.956000	0.39512	0.911000	0.54048	3.857000	0.55972	0.014000	0.14944	0.533000	0.62120	GAC		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		68	348	0	0	0	1	0	68	348				
WDFY3	23001	broad.mit.edu	37	4	85750255	85750255	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750255A>C	ENST00000295888.4	-	9	1265	c.858T>G	c.(856-858)ctT>ctG	p.L286L	WDFY3_ENST00000322366.6_Silent_p.L286L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	286					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGAAACAAGAAAGCCCAGCAA	0.388																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(856-858)ctT>ctG		WD repeat and FYVE domain containing 3							96.0	100.0	99.0					4																	85750255		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85750255A>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.858T>G	4.37:g.85750255A>C						WDFY3_ENST00000295888.4_Silent_p.L286L	p.L286L			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	9	1265	-		Hepatocellular(203;0.114)	286					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.858T>G	CCDS3609.1																																																																																				0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		79	370	0	0	0	1	0	79	370				
TPD52L2	7165	broad.mit.edu	37	20	62514152	62514152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62514152G>A	ENST00000346249.4	+	5	531	c.455G>A	c.(454-456)aGc>aAc	p.S152N	TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N|TPD52L2_ENST00000217121.5_Missense_Mutation_p.S152N|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	152					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCTGCCATCAGCAGGAAGCTT	0.552																																						ENST00000217121.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(454-456)aGc>aAc		tumor protein D52-like 2							97.0	73.0	81.0					20																	62514152		2203	4300	6503	SO:0001583	missense	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62514152G>A	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.455G>A	20.37:g.62514152G>A	ENSP00000343547:p.Ser152Asn					TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N|TPD52L2_ENST00000346249.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N	p.S152N	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN			5	527	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		152					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	c.455G>A	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242139	0.79912	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.15	5.15	0.70609	.	0.147707	0.64402	D	0.000017	T	0.49201	0.1543	M	0.82193	2.58	0.40483	D	0.980467	P;P;B;D;B;P;P;B;B	0.53885	0.464;0.661;0.433;0.963;0.433;0.454;0.765;0.254;0.433	P;P;P;P;P;B;B;B;P	0.58780	0.579;0.456;0.561;0.845;0.561;0.357;0.357;0.375;0.456	T	0.56792	-0.7920	10	0.72032	D	0.01	-20.0996	13.3671	0.60692	0.0:0.1579:0.8421:0.0	.	109;103;152;132;152;132;132;152;152	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	N	109;152;132;152;132;152;132	ENSP00000358943:S109N;ENSP00000343547:S152N;ENSP00000343554:S132N;ENSP00000344647:S152N;ENSP00000340006:S132N;ENSP00000217121:S152N;ENSP00000351350:S132N	ENSP00000217121:S152N	S	+	2	0	TPD52L2	61984596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.296000	0.72751	2.401000	0.81631	0.561000	0.74099	AGC		0.552	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			36	178	0	0	0	1	0	36	178				
GRIK2	2898	broad.mit.edu	37	6	102074437	102074437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102074437C>A	ENST00000421544.1	+	3	956	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	GRIK2_ENST00000369138.1_Missense_Mutation_p.L156I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I|GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	156					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTTCTCTTCACTCAGCCGTGC	0.468																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(466-468)Ctc>Atc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						96.0	96.0	96.0					6																	102074437		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074437C>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.466C>A	6.37:g.102074437C>A	ENSP00000397026:p.Leu156Ile					GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000421544.1_Missense_Mutation_p.L156I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I|GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I	p.L156I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	956	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	156					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.466C>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352039	0.41700	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.79	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	L	0.31752	0.955	0.40380	D	0.979436	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.30401	0.07;0.115;0.049	T	0.65265	-0.6210	10	0.19590	T	0.45	.	16.1759	0.81851	0.1345:0.8655:0.0:0.0	.	156;156;156	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	156;156;156;156;156;156;156;107;118	ENSP00000397026:L156I;ENSP00000405596:L156I;ENSP00000358134:L156I;ENSP00000351128:L156I;ENSP00000358133:L156I;ENSP00000313276:L156I;ENSP00000358130:L107I	ENSP00000313276:L156I	L	+	1	0	GRIK2	102181130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.541000	0.60670	1.404000	0.46819	0.655000	0.94253	CTC		0.468	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			75	355	1	0	3.00167e-28	1	3.48911e-28	75	355				
FAM149A	25854	broad.mit.edu	37	4	187074871	187074871	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187074871C>T	ENST00000356371.5	+	5	1032	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	FAM149A_ENST00000514153.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	344										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTCCTGCCTCCGCAGTCCACA	0.507																																						ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1030-1032)tcC>tcT		family with sequence similarity 149, member A							118.0	127.0	124.0					4																	187074871		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187074871C>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1032C>T	4.37:g.187074871C>T						FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000514153.1_Silent_p.S53S|FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S	p.S344S			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	5	1032	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	344					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.1032C>T																																																																																					0.507	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		197	776	0	0	0	1	0	197	776				
VANGL1	81839	broad.mit.edu	37	1	116233771	116233771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116233771C>T	ENST00000355485.2	+	8	1617	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.4_Missense_Mutation_p.P447L|VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	449					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGTGCGGGCCCCACCCTGCAA	0.542																																						ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(1345-1347)cCc>cTc		VANGL planar cell polarity protein 1							88.0	76.0	80.0					1																	116233771		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116233771C>T	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1346C>T	1.37:g.116233771C>T	ENSP00000347672:p.Pro449Leu					VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L|VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.3_Missense_Mutation_p.P447L	p.P449L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	8	1617	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	449					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.1346C>T	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996543	0.93167	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94849	0.8012	10	0.54805	T	0.06	-16.6377	18.5856	0.91188	0.0:1.0:0.0:0.0	.	447;449	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	L	449;447;449;449	ENSP00000347672:P449L;ENSP00000358523:P447L;ENSP00000310800:P449L;ENSP00000358522:P449L	ENSP00000310800:P449L	P	+	2	0	VANGL1	116035294	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.651000	0.83577	2.617000	0.88574	0.655000	0.94253	CCC		0.542	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			40	211	0	0	0	1	0	40	211				
MED12L	116931	broad.mit.edu	37	3	150877748	150877748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877748G>T	ENST00000474524.1	+	7	1005	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MED12L_ENST00000309237.4_Nonsense_Mutation_p.G323*|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Nonsense_Mutation_p.G323*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	323						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGATGATAGGACCAAACAA	0.607																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(967-969)Gga>Tga		mediator complex subunit 12-like							128.0	132.0	130.0					3																	150877748		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877748G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.967G>T	3.37:g.150877748G>T	ENSP00000417235:p.Gly323*					MED12L_ENST00000422248.2_Nonsense_Mutation_p.G323*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.G323*|MED12L_ENST00000273432.4_Intron	p.G323*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1005	+			323					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.967G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	38	6.671110	0.97751	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	.	.	.	5.41	5.41	0.78517	.	0.130879	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.7336	18.813	0.92065	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000310760:G323X	G	+	1	0	MED12L	152360438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.323000	0.59221	2.533000	0.85409	0.561000	0.74099	GGA		0.607	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		184	837	1	0	9.35327e-79	1	1.19482e-78	184	837				
PCDH8	5100	broad.mit.edu	37	13	53419603	53419603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419603G>A	ENST00000377942.3	-	2	2999	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	PCDH8_ENST00000338862.4_Silent_p.S835S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	932					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAGCGTCCCCGCTGATGTCGG	0.522																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2794-2796)agC>agT		protocadherin 8							171.0	136.0	148.0					13																	53419603		2203	4300	6503	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419603G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2796C>T	13.37:g.53419603G>A						PCDH8_ENST00000338862.4_Silent_p.S835S	p.S932S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	2	2999	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	932					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.2796C>T	CCDS9438.1																																																																																				0.522	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		21	368	0	0	0	1	0	21	368				
BPIFB2	80341	broad.mit.edu	37	20	31606506	31606506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31606506C>T	ENST00000170150.3	+	9	928	c.733C>T	c.(733-735)Cca>Tca	p.P245S		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	245						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TTTTGTGTTGCCAAGGCATGT	0.627																																						ENST00000170150.3																			0											c.(733-735)Cca>Tca		BPI fold containing family B, member 2							127.0	123.0	124.0					20																	31606506		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606506C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.733C>T	20.37:g.31606506C>T	ENSP00000170150:p.Pro245Ser						p.P245S	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			9	928	+			245					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.733C>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714973	0.68844	.	.	ENSG00000078898	ENST00000170150	T	0.09630	2.96	5.13	5.13	0.70059	.	0.000000	0.52532	D	0.000066	T	0.37156	0.0993	M	0.86028	2.79	0.44214	D	0.997043	D	0.89917	1.0	D	0.91635	0.999	T	0.22730	-1.0208	10	0.66056	D	0.02	-10.9098	14.4292	0.67238	0.0:1.0:0.0:0.0	.	245	Q8N4F0	BPIB2_HUMAN	S	245	ENSP00000170150:P245S	ENSP00000170150:P245S	P	+	1	0	BPIFB2	31070167	0.996000	0.38824	0.472000	0.27241	0.002000	0.02628	3.683000	0.54663	2.540000	0.85666	0.561000	0.74099	CCA		0.627	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		152	729	0	0	0	1	0	152	729				
CAMTA2	23125	broad.mit.edu	37	17	4876933	4876933	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4876933G>A	ENST00000348066.3	-	13	2271	c.2148C>T	c.(2146-2148)caC>caT	p.H716H	CAMTA2_ENST00000572543.1_Silent_p.H721H|CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000381311.5_Silent_p.H718H|CAMTA2_ENST00000358183.4_Silent_p.H716H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Silent_p.H715H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	716					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGCAGCCAGGTGCAGAAGGC	0.642																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2143-2145)caC>caT		calmodulin binding transcription activator 2							41.0	43.0	42.0					17																	4876933		2203	4300	6503	SO:0001819	synonymous_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4876933G>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2148C>T	17.37:g.4876933G>A						CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000358183.4_Silent_p.H716H|CAMTA2_ENST00000348066.3_Silent_p.H716H|CAMTA2_ENST00000572543.1_Silent_p.H721H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Silent_p.H718H	p.H715H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			12	2556	-			716					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	ENST00000348066.3	37	c.2145C>T	CCDS11063.1																																																																																				0.642	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		36	163	0	0	0	1	0	36	163				
PIK3C2B	5287	broad.mit.edu	37	1	204426936	204426936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204426936C>T	ENST00000367187.3	-	10	2189	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	PIK3C2B_ENST00000496872.1_5'Flank|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	545					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTCCACGGCGGCCAGGGCG	0.632																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1633-1635)Gcc>Acc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57.0	53.0	54.0					1																	204426936		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204426936C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1633G>A	1.37:g.204426936C>T	ENSP00000356155:p.Ala545Thr					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T	p.A545T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		10	2189	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		545					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1633G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222775	0.58668	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.60920	0.15;0.22	5.37	5.37	0.77165	.	0.063724	0.64402	D	0.000011	T	0.51702	0.1690	L	0.57536	1.79	0.39730	D	0.97159	B;P	0.38827	0.27;0.649	B;B	0.34093	0.09;0.175	T	0.53208	-0.8471	10	0.18710	T	0.47	.	16.8798	0.86060	0.0:1.0:0.0:0.0	.	545;545	F5GWN5;O00750	.;P3C2B_HUMAN	T	545	ENSP00000356155:A545T;ENSP00000400561:A545T	ENSP00000356155:A545T	A	-	1	0	PIK3C2B	202693559	0.999000	0.42202	0.348000	0.25681	0.689000	0.40095	4.266000	0.58871	2.509000	0.84616	0.655000	0.94253	GCC		0.632	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		37	207	0	0	0	1	0	37	207				
KCNMA1	3778	broad.mit.edu	37	10	78944632	78944632	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78944632T>C	ENST00000286628.8	-	4	644	c.645A>G	c.(643-645)ttA>ttG	p.L215L	KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000354353.5_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000286627.5_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	215					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGTCGATCTGTAATGTGAAAT	0.413																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(643-645)ttA>ttG		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						179.0	161.0	167.0					10																	78944632		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78944632T>C	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.645A>G	10.37:g.78944632T>C						KCNMA1_ENST00000354353.5_Silent_p.L215L|KCNMA1_ENST00000286628.8_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L	p.L215L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		4	1597	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		215					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.645A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.680|7.680	0.688727|0.688727	0.14973|0.14973	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372403	.|.	.|.	.|.	5.31|5.31	2.98|2.98	0.34508|0.34508	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44651|0.44651	-0.9314|-0.9314	4|4	.|.	.|.	.|.	-8.5752|-8.5752	5.3325|5.3325	0.15940|0.15940	0.1298:0.1414:0.0:0.7288|0.1298:0.1414:0.0:0.7288	.|.	.|.	.|.	.|.	A|C	204|166	.|.	.|.	T|Y	-|-	1|2	0|0	KCNMA1|KCNMA1	78614638|78614638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.531000|2.531000	0.45650|0.45650	0.531000|0.531000	0.28639|0.28639	-0.256000|-0.256000	0.11100|0.11100	ACA|TAC		0.413	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		114	434	0	0	0	1	0	114	434				
TOP2B	7155	broad.mit.edu	37	3	25668286	25668286	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25668286G>A	ENST00000264331.4	-	17	2085	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	TOP2B_ENST00000435706.2_Missense_Mutation_p.R691C	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	696					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGTAGCCTACGCTGTCTCCGG	0.388																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(2071-2073)Cgt>Tgt		topoisomerase (DNA) II beta 180kDa							68.0	69.0	69.0					3																	25668286		2203	4300	6503	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25668286G>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2086C>T	3.37:g.25668286G>A	ENSP00000264331:p.Arg696Cys					TOP2B_ENST00000264331.4_Missense_Mutation_p.R696C	p.R691C			Q02880	TOP2B_HUMAN			17	2272	-			696					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.2071C>T		.	.	.	.	.	.	.	.	.	.	G	18.21	3.574399	0.65878	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.78049	2.395	0.80722	D	1	D	0.53745	0.962	P	0.49192	0.602	T	0.67397	-0.5681	10	0.66056	D	0.02	0.0	19.5213	0.95185	0.0:0.0:1.0:0.0	.	691	Q02880-2	.	C	691;696;691	ENSP00000396704:R691C;ENSP00000264331:R696C	ENSP00000264331:R696C	R	-	1	0	TOP2B	25643290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.316000	0.59178	2.681000	0.91329	0.557000	0.71058	CGT		0.388	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				9	58	0	0	0	1	0	9	58				
SGSM1	129049	broad.mit.edu	37	22	25251355	25251355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251355C>T	ENST00000400359.4	+	7	634	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SGSM1_ENST00000400358.4_Silent_p.S209S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	209						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCACAGCTCCCACGTGCGGC	0.622																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(625-627)tcC>tcT		small G protein signaling modulator 1							28.0	31.0	30.0					22																	25251355		2092	4221	6313	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25251355C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.627C>T	22.37:g.25251355C>T						SGSM1_ENST00000400359.4_Silent_p.S209S	p.S209S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			7	684	+			209					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.627C>T	CCDS46674.1																																																																																				0.622	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		23	117	0	0	0	1	0	23	117				
ESR2	2100	broad.mit.edu	37	14	64727439	64727439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64727439C>T	ENST00000341099.4	-	5	1097	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000557772.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H|ESR2_ENST00000555278.1_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	227	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R227L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACAAGGCGGTACCCACA	0.587																																						ENST00000557772.1																			2	Substitution - Missense(2)	p.R227L(2)	lung(2)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(679-681)cGc>cAc		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						29.0	30.0	30.0					14																	64727439		2201	4294	6495	SO:0001583	missense	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64727439C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.680G>A	14.37:g.64727439C>T	ENSP00000343925:p.Arg227His					ESR2_ENST00000555278.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000341099.4_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H|ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H	p.R227H	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	4	679	-			227			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.680G>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344503	0.61073	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.94;-2.89;-2.88;-2.88;-2.88;-2.96;-2.94;-2.96;-2.94;-2.79;-2.53	5.53	3.72	0.42706	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.414867	0.28748	N	0.014261	D	0.96513	0.8862	M	0.92923	3.36	0.58432	D	0.999997	P;D;D;D;B	0.89917	0.835;1.0;0.998;1.0;0.066	B;D;D;D;B	0.77557	0.401;0.985;0.921;0.99;0.017	D	0.96129	0.9091	10	0.54805	T	0.06	.	12.2801	0.54759	0.0:0.8637:0.0:0.1363	.	227;227;227;227;227	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	H	227	ENSP00000452485:R227H;ENSP00000441792:R227H;ENSP00000450699:R227H;ENSP00000335551:R227H;ENSP00000351412:R227H;ENSP00000450488:R227H;ENSP00000452426:R227H;ENSP00000350427:R227H;ENSP00000451582:R227H;ENSP00000343925:R227H;ENSP00000267525:R227H	ENSP00000267525:R227H	R	-	2	0	ESR2	63797192	0.982000	0.34865	0.709000	0.30452	0.245000	0.25701	2.455000	0.44988	0.818000	0.34468	0.563000	0.77884	CGC		0.587	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			59	230	0	0	0	1	0	59	230				
VPRBP	9730	broad.mit.edu	37	3	51457767	51457767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457767G>A	ENST00000335891.5	-	7	1319	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	886	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGGGTAAAGGCAGAAGAATG	0.527																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1309-1311)gCc>gTc		Vpr (HIV-1) binding protein							125.0	136.0	132.0					3																	51457767		2169	4263	6432	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457767G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1310C>T	3.37:g.51457767G>A	ENSP00000338857:p.Ala437Val						p.A437V			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1319	-			886					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.1310C>T		.	.	.	.	.	.	.	.	.	.	G	12.24	1.877421	0.33162	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.35048	1.33;1.33	6.07	6.07	0.98685	.	0.263121	0.44688	D	0.000424	T	0.31071	0.0785	L	0.34521	1.04	0.44603	D	0.997579	B	0.29646	0.253	B	0.28305	0.088	T	0.06935	-1.0799	10	0.13470	T	0.59	-12.0272	20.6439	0.99570	0.0:0.0:1.0:0.0	.	886	Q9Y4B6	VPRBP_HUMAN	V	457;437	ENSP00000393183:A457V;ENSP00000338857:A437V	ENSP00000338857:A437V	A	-	2	0	VPRBP	51432807	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.219000	0.78000	2.884000	0.98904	0.655000	0.94253	GCC		0.527	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		66	336	0	0	0	1	0	66	336				
FATE1	89885	broad.mit.edu	37	X	150889958	150889958	+	Missense_Mutation	SNP	G	G	A	rs138889158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150889958G>A	ENST00000370350.3	+	3	411	c.326G>A	c.(325-327)cGt>cAt	p.R109H		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCATACGTTTCCATTAT	0.592													G|||	4	0.0010596	0.0	0.0	3775	,	,		14800	0.0		0.0	False		,,,				2504	0.0041					ENST00000370350.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15						c.(325-327)cGt>cAt		fetal and adult testis expressed 1		G	HIS/ARG	1,3834		0,1,0,1631,571	95.0	75.0	82.0		326	-1.0	0.0	X	dbSNP_134	82	2,6726		0,1,1,2427,1871	yes	missense	FATE1	NM_033085.2	29	0,2,1,4058,2442	AA,AG,A,GG,G		0.0297,0.0261,0.0284	probably-damaging	109/184	150889958	3,10560	2203	4300	6503	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150889958G>A	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.326G>A	X.37:g.150889958G>A	ENSP00000359375:p.Arg109His						p.R109H	NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN			3	411	+	Acute lymphoblastic leukemia(192;6.56e-05)		109						Missense_Mutation	SNP	ENST00000370350.3	37	c.326G>A	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344934	0.41498	2.61E-4	2.97E-4	ENSG00000147378	ENST00000370350	T	0.50548	0.74	3.86	-0.981	0.10269	.	1.771650	0.03809	N	0.265624	T	0.32406	0.0828	L	0.34521	1.04	0.09310	N	1	P	0.44627	0.839	B	0.32762	0.152	T	0.36432	-0.9748	10	0.56958	D	0.05	-1.8615	7.3918	0.26913	0.6058:0.0:0.3942:0.0	.	109	Q969F0	FATE1_HUMAN	H	109	ENSP00000359375:R109H	ENSP00000359375:R109H	R	+	2	0	FATE1	150640614	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.331000	0.19733	-0.382000	0.07870	0.483000	0.47432	CGT		0.592	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		70	224	0	0	0	1	0	70	224				
ABHD1	84696	broad.mit.edu	37	2	27352776	27352776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27352776C>T	ENST00000316470.4	+	6	886	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	258						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGCTGGGCTCTGCCAACT	0.562																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(772-774)Ctc>Ttc		abhydrolase domain containing 1							52.0	50.0	50.0					2																	27352776		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27352776C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.772C>T	2.37:g.27352776C>T	ENSP00000326491:p.Leu258Phe						p.L258F	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			6	886	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.772C>T	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131254	0.56828	.	.	ENSG00000143994	ENST00000316470	T	0.71222	-0.55	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000008	D	0.88005	0.6321	M	0.93808	3.46	0.48762	D	0.9997	D	0.89917	1.0	D	0.87578	0.998	D	0.90798	0.4692	10	0.87932	D	0	-15.2943	16.0869	0.81060	0.0:1.0:0.0:0.0	.	258	Q96SE0	ABHD1_HUMAN	F	258	ENSP00000326491:L258F	ENSP00000326491:L258F	L	+	1	0	ABHD1	27206280	0.986000	0.35501	0.962000	0.40283	0.262000	0.26303	2.752000	0.47516	2.655000	0.90218	0.655000	0.94253	CTC		0.562	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		41	184	0	0	0	1	0	41	184				
C3orf38	285237	broad.mit.edu	37	3	88205716	88205716	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205716A>G	ENST00000318887.3	+	3	1231	c.921A>G	c.(919-921)gtA>gtG	p.V307V	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	307					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TAATCACTGTATGTGGTACCA	0.398																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(919-921)gtA>gtG		chromosome 3 open reading frame 38							70.0	74.0	73.0					3																	88205716		2203	4300	6503	SO:0001819	synonymous_variant	285237				apoptosis			g.chr3:88205716A>G	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.921A>G	3.37:g.88205716A>G						C3orf38_ENST00000486971.1_3'UTR	p.V307V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	1231	+		Lung NSC(201;0.17)	307					B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	c.921A>G	CCDS2921.2																																																																																				0.398	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		35	299	0	0	0	1	0	35	299				
PLA2G3	50487	broad.mit.edu	37	22	31531903	31531903	+	Missense_Mutation	SNP	C	C	T	rs374622090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31531903C>T	ENST00000215885.3	-	7	1588	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	446					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCCTGATGGCCCTAGGGTCT	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		19023	0.0		0.0	False		,,,				2504	0.002					ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(1336-1338)Gcc>Acc		phospholipase A2, group III							43.0	45.0	44.0					22																	31531903		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31531903C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1336G>A	22.37:g.31531903C>T	ENSP00000215885:p.Ala446Thr						p.A446T	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			7	1588	-			446					O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.1336G>A	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333843	0.60853	.	.	ENSG00000100078	ENST00000215885	T	0.30981	1.51	5.27	5.27	0.74061	Phospholipase A2 (2);	0.201738	0.42682	D	0.000673	T	0.52948	0.1766	M	0.71581	2.175	0.37492	D	0.916428	D	0.89917	1.0	D	0.80764	0.994	T	0.53613	-0.8414	10	0.30854	T	0.27	-9.2791	14.739	0.69440	0.0:1.0:0.0:0.0	.	446	Q9NZ20	PA2G3_HUMAN	T	446	ENSP00000215885:A446T	ENSP00000215885:A446T	A	-	1	0	PLA2G3	29861903	0.999000	0.42202	0.972000	0.41901	0.360000	0.29518	3.589000	0.53972	2.631000	0.89168	0.655000	0.94253	GCC		0.597	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		74	274	0	0	0	1	0	74	274				
FAM179B	23116	broad.mit.edu	37	14	45432435	45432435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432435G>A	ENST00000361577.3	+	1	1025	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	FAM179B_ENST00000361462.2_Missense_Mutation_p.E271K|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	271										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAGACAGAAGAAGAATCTGA	0.493																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(811-813)Gaa>Aaa		family with sequence similarity 179, member B							88.0	93.0	91.0					14																	45432435		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432435G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.811G>A	14.37:g.45432435G>A	ENSP00000355045:p.Glu271Lys					FAM179B_ENST00000361577.3_Missense_Mutation_p.E271K|FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K	p.E271K			Q9Y4F4	F179B_HUMAN			1	994	+			271					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.811G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001673	0.74932	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.52983	0.64;0.64;0.64	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.50627	D	0.000111	T	0.32526	0.0832	N	0.19112	0.55	0.36094	D	0.84367	P;B;B;P	0.42296	0.775;0.167;0.167;0.649	B;B;B;B	0.36666	0.23;0.124;0.085;0.23	T	0.49862	-0.8894	10	0.66056	D	0.02	-15.5345	13.7639	0.62983	0.0:0.0:1.0:0.0	.	271;271;271;271	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	K	271	ENSP00000355045:E271K;ENSP00000354917:E271K;ENSP00000371668:E271K	ENSP00000354917:E271K	E	+	1	0	FAM179B	44502185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.307000	0.51888	2.619000	0.88677	0.561000	0.74099	GAA		0.493	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		103	463	0	0	0	1	0	103	463				
FAM149A	25854	broad.mit.edu	37	4	187078767	187078767	+	Missense_Mutation	SNP	C	C	T	rs548671208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187078767C>T	ENST00000356371.5	+	8	1496	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L	FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	499										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AACAGATTTCCGCACGTCCTC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.0		0.0	False		,,,				2504	0.001					ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1495-1497)cCg>cTg		family with sequence similarity 149, member A							72.0	81.0	78.0					4																	187078767		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187078767C>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1496C>T	4.37:g.187078767C>T	ENSP00000348732:p.Pro499Leu					FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L	p.P499L			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	8	1496	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	499					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.1496C>T		.	.	.	.	.	.	.	.	.	.	C	10.45	1.353175	0.24512	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.13307	2.63;2.6;2.63;2.63;2.63;2.63	4.77	2.07	0.26955	.	0.475510	0.22929	N	0.053939	T	0.10165	0.0249	L	0.48362	1.52	0.09310	N	1	B;B;B	0.28850	0.054;0.032;0.225	B;B;B	0.17722	0.011;0.006;0.019	T	0.21449	-1.0245	10	0.51188	T	0.08	-2.3135	5.3957	0.16268	0.1608:0.6666:0.0:0.1725	.	499;499;208	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	L	208;499;208;208;208;208	ENSP00000426835:P208L;ENSP00000348732:P499L;ENSP00000227065:P208L;ENSP00000427155:P208L;ENSP00000424380:P208L;ENSP00000374005:P208L	ENSP00000227065:P208L	P	+	2	0	FAM149A	187315761	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.478000	0.22212	0.326000	0.23384	-0.272000	0.10252	CCG		0.512	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		53	313	0	0	0	1	0	53	313				
SHFM1	7979	broad.mit.edu	37	7	96324145	96324145	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96324145A>G	ENST00000248566.2	-	2	262	c.135T>C	c.(133-135)gaT>gaC	p.D45D	SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	45	Asp/Glu-rich (highly acidic).				double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CTACATTGTCATCATCCCAAT	0.333								Homologous recombination																														ENST00000248566.2																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(133-135)gaT>gaC	Homologous recombination	split hand/foot malformation (ectrodactyly) type 1							180.0	177.0	178.0					7																	96324145		2203	4300	6503	SO:0001819	synonymous_variant	7979				proteolysis	proteasome complex	peptidase activity|protein binding	g.chr7:96324145A>G	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.135T>C	7.37:g.96324145A>G						SHFM1_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D	p.D45D	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN			2	262	-	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)		45			Asp/Glu-rich (highly acidic).		Q13437|Q61067	Silent	SNP	ENST00000248566.2	37	c.135T>C	CCDS5646.1																																																																																				0.333	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304		114	420	0	0	0	1	0	114	420				
ATAD5	79915	broad.mit.edu	37	17	29196541	29196541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196541C>T	ENST00000321990.4	+	14	3862	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1162					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTCTTCCCAGCGCAGTGGTAG	0.353																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3484-3486)Cgc>Tgc		ATPase family, AAA domain containing 5							121.0	119.0	120.0					17																	29196541		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196541C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3484C>T	17.37:g.29196541C>T	ENSP00000313171:p.Arg1162Cys						p.R1162C	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			14	3862	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1162					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3484C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004580	0.54254	.	.	ENSG00000176208	ENST00000321990	T	0.19806	2.12	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.169939	0.51477	D	0.000090	T	0.61299	0.2336	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72693	-0.4216	10	0.87932	D	0	.	19.6689	0.95903	0.0:1.0:0.0:0.0	.	1162;1162	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1162	ENSP00000313171:R1162C	ENSP00000313171:R1162C	R	+	1	0	ATAD5	26220667	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.581000	0.67471	2.642000	0.89623	0.655000	0.94253	CGC		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		84	346	0	0	0	1	0	84	346				
PAN3	255967	broad.mit.edu	37	13	28844994	28844994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28844994G>T	ENST00000380958.3	+	13	2101	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	PAN3_ENST00000399613.1_Missense_Mutation_p.G450V|PAN3_ENST00000282391.5_Missense_Mutation_p.G338V	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGATAACTGGCAAAACAAGG	0.363																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1348-1350)gGc>gTc		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							161.0	152.0	155.0					13																	28844994		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28844994G>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1949G>T	13.37:g.28844994G>T	ENSP00000370345:p.Gly650Val					PAN3_ENST00000380958.3_Missense_Mutation_p.G650V|PAN3_ENST00000282391.5_Missense_Mutation_p.G338V	p.G450V			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	12	1412	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	650			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1349G>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809788	0.90707	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.42131	0.98;0.98;0.98	5.42	5.42	0.78866	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043637	0.85682	D	0.000000	T	0.64897	0.2640	M	0.77103	2.36	0.80722	D	1	D;D;P;D	0.63880	0.975;0.968;0.904;0.993	P;P;P;P	0.61533	0.848;0.732;0.463;0.89	T	0.65681	-0.6109	10	0.49607	T	0.09	-7.5491	19.5822	0.95471	0.0:0.0:1.0:0.0	.	650;650;338;596	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	V	650;450;338	ENSP00000370345:G650V;ENSP00000382522:G450V;ENSP00000282391:G338V	ENSP00000282391:G338V	G	+	2	0	PAN3	27742994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.704000	0.92352	0.563000	0.77884	GGC		0.363	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		85	601	1	0	3.77759e-48	1	4.65876e-48	85	601				
ZNF808	388558	broad.mit.edu	37	19	53056883	53056883	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53056883A>C	ENST00000359798.4	+	5	894	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGAGTGGCAAAGCCTTTAATT	0.373																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(712-714)aaA>aaC		zinc finger protein 808							144.0	147.0	146.0					19																	53056883		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056883A>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.714A>C	19.37:g.53056883A>C	ENSP00000352846:p.Lys238Asn						p.K238N	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	894	+			238					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.714A>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.11	1.839190	0.32513	.	.	ENSG00000198482	ENST00000359798	T	0.22134	1.97	1.57	-2.54	0.06307	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47078	0.1426	M	0.92367	3.3	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.33803	-0.9854	9	0.66056	D	0.02	.	7.1187	0.25431	0.5911:0.0:0.4089:0.0	.	238	Q8N4W9	ZN808_HUMAN	N	238	ENSP00000352846:K238N	ENSP00000352846:K238N	K	+	3	2	ZNF808	57748695	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.148000	0.16224	-0.600000	0.05790	0.254000	0.18369	AAA		0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		34	888	0	0	0	1	0	34	888				
TTC3	7267	broad.mit.edu	37	21	38537998	38537998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38537998G>A	ENST00000399017.2	+	33	6229	c.3482G>A	c.(3481-3483)cGt>cAt	p.R1161H	TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1161					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGATGCCCTCGTTTTGTTGTG	0.363																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3481-3483)cGt>cAt		tetratricopeptide repeat domain 3							161.0	176.0	171.0					21																	38537998		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38537998G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3482G>A	21.37:g.38537998G>A	ENSP00000381981:p.Arg1161His					TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H	p.R1161H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			33	6229	+		Myeloproliferative disorder(46;0.0412)	1161					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3482G>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472211	0.63737	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.14766	2.48;2.48;2.79;2.79;2.79	4.75	4.75	0.60458	.	0.097011	0.45867	D	0.000333	T	0.36026	0.0952	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.926	T	0.13282	-1.0515	10	0.87932	D	0	-11.0241	16.2538	0.82501	0.0:0.0:1.0:0.0	.	219;1161	Q5GIT6;P53804	.;TTC3_HUMAN	H	1161;1143;1161;1161;1161	ENSP00000403943:R1161H;ENSP00000391891:R1143H;ENSP00000347889:R1161H;ENSP00000381981:R1161H;ENSP00000346791:R1161H	ENSP00000346791:R1161H	R	+	2	0	TTC3	37459868	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.674000	0.46867	2.352000	0.79861	0.591000	0.81541	CGT		0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			100	961	0	0	0	1	0	100	961				
USP24	23358	broad.mit.edu	37	1	55589226	55589226	+	Silent	SNP	C	C	T	rs373311667		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55589226C>T	ENST00000294383.6	-	36	4169	c.4170G>A	c.(4168-4170)gcG>gcA	p.A1390A	USP24_ENST00000407756.1_Silent_p.A1230A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1390					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.A1390A(1)|p.A1307A(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACAGATTCCCGCATGCAGGG	0.493																																						ENST00000294383.6																			2	Substitution - coding silent(2)	p.A1390A(1)|p.A1307A(1)	lung(2)	breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4168-4170)gcG>gcA		ubiquitin specific peptidase 24		T		0,3840		0,0,1920	65.0	63.0	64.0		4170	-9.6	0.5	1		64	1,8259		0,1,4129	no	coding-synonymous	USP24	NM_015306.2		0,1,6049	TT,TC,CC		0.0121,0.0,0.0083		1390/2621	55589226	1,12099	1920	4130	6050	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55589226C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4170G>A	1.37:g.55589226C>T						USP24_ENST00000407756.1_Silent_p.A1230A	p.A1390A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			36	4169	-			1390					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.4170G>A	CCDS44154.2																																																																																				0.493	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			13	45	0	0	0	1	0	13	45				
STXBP5L	9515	broad.mit.edu	37	3	120941850	120941850	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120941850C>T	ENST00000273666.6	+	11	1228	c.957C>T	c.(955-957)agC>agT	p.S319S	STXBP5L_ENST00000492541.1_Splice_Site_p.S319S|STXBP5L_ENST00000497029.1_Splice_Site_p.S319S|STXBP5L_ENST00000472879.1_Splice_Site_p.S319S|STXBP5L_ENST00000471454.1_Splice_Site_p.S319S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	319					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCTATGTAGCGAACCATTCA	0.368																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.e11-1		syntaxin binding protein 5-like							134.0	124.0	127.0					3																	120941850		1861	4094	5955	SO:0001630	splice_region_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120941850C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.957-1C>T	3.37:g.120941850C>T						STXBP5L_ENST00000471454.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000472879.1_Splice_Site_p.S319_splice	p.S319_splice	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	11	1228	+			319					Q4G1B4|Q6PIC3	Splice_Site	SNP	ENST00000273666.6	37	c.956_splice	CCDS43137.1																																																																																				0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		Silent	58	403	0	0	0	1	0	58	403				
IGHV2-5	28457	broad.mit.edu	37	14	106494250	106494250	+	RNA	SNP	C	C	A	rs575983672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106494250C>A	ENST00000390597.2	-	0	261									immunoglobulin heavy variable 2-5																		CAGAGATGGGCTGTAGCGCTT	0.537																																						ENST00000390597.2																			0																				134.0	120.0	125.0					14																	106494250		2012	4167	6179			0							g.chr14:106494250C>A	X62111		14q32.33	2012-02-08			ENSG00000211937	ENSG00000211937		"""Immunoglobulins / IGH locus"""	5576	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152287		14.37:g.106494250C>A														0	261	-									RNA	SNP	ENST00000390597.2	37																																																																																						0.537	IGHV2-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325675.1	NG_001019		78	315	1	0	1.38705e-31	1	1.63402e-31	78	315				
LMTK2	22853	broad.mit.edu	37	7	97821797	97821797	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821797G>T	ENST00000297293.5	+	11	2313	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	674					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCCAGTTTGGATAACCCCAA	0.408																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(2020-2022)Gat>Tat		lemur tyrosine kinase 2							78.0	87.0	84.0					7																	97821797		2202	4300	6502	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821797G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2020G>T	7.37:g.97821797G>T	ENSP00000297293:p.Asp674Tyr						p.D674Y	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2313	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		674					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2020G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172564	0.57584	.	.	ENSG00000164715	ENST00000297293	T	0.80393	-1.37	5.91	3.1	0.35709	.	0.619197	0.18351	N	0.143894	D	0.82820	0.5120	M	0.64997	1.995	0.09310	N	0.999999	D	0.58620	0.983	P	0.56865	0.808	T	0.72846	-0.4169	10	0.66056	D	0.02	.	6.1036	0.20061	0.2139:0.1357:0.6504:0.0	.	674	Q8IWU2	LMTK2_HUMAN	Y	674	ENSP00000297293:D674Y	ENSP00000297293:D674Y	D	+	1	0	LMTK2	97659733	0.984000	0.35163	0.009000	0.14445	0.988000	0.76386	2.183000	0.42565	0.384000	0.24942	0.655000	0.94253	GAT		0.408	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		179	645	1	0	6.55925e-89	1	8.4157e-89	179	645				
EIF4G3	8672	broad.mit.edu	37	1	21268661	21268661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268661G>A	ENST00000264211.8	-	8	1012	c.818C>T	c.(817-819)tCt>tTt	p.S273F	EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S279F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	273					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGAGCAACAGAAGAAACAGT	0.463																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(835-837)tCt>tTt		eukaryotic translation initiation factor 4 gamma, 3							137.0	126.0	130.0					1																	21268661		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268661G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.818C>T	1.37:g.21268661G>A	ENSP00000264211:p.Ser273Phe					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S273F|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F	p.S279F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1419	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	273					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.836C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025039	0.35701	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.96	5.96	0.96718	.	0.226323	0.46442	D	0.000299	T	0.13841	0.0335	N	0.08118	0	0.26073	N	0.981196	P;P;P;B;B	0.48016	0.824;0.608;0.904;0.004;0.162	B;B;P;B;B	0.44811	0.419;0.078;0.461;0.001;0.203	T	0.12066	-1.0562	10	0.59425	D	0.04	-2.8518	11.2797	0.49186	0.0822:0.0:0.9178:0.0	.	273;468;399;279;273	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	273;469;273;279;399;273;284	ENSP00000264211:S273F;ENSP00000383274:S273F;ENSP00000364073:S279F;ENSP00000364062:S273F	ENSP00000264211:S273F	S	-	2	0	EIF4G3	21141248	1.000000	0.71417	0.995000	0.50966	0.716000	0.41182	4.328000	0.59253	2.832000	0.97577	0.655000	0.94253	TCT		0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		50	491	0	0	0	1	0	50	491				
NETO1	81832	broad.mit.edu	37	18	70461420	70461420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461420C>T	ENST00000327305.6	-	6	1228	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NETO1_ENST00000299430.2_Missense_Mutation_p.E190K|NETO1_ENST00000583169.1_Missense_Mutation_p.E191K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	191	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCTTTGCCTTCCTTCATAATT	0.458																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(571-573)Gaa>Aaa		neuropilin (NRP) and tolloid (TLL)-like 1							159.0	141.0	147.0					18																	70461420		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461420C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.571G>A	18.37:g.70461420C>T	ENSP00000313088:p.Glu191Lys					NETO1_ENST00000299430.2_Missense_Mutation_p.E190K|NETO1_ENST00000583169.1_Missense_Mutation_p.E191K	p.E191K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1228	-		Esophageal squamous(42;0.129)	191			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.571G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093415	0.94149	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.57752	0.38;0.38	5.29	5.29	0.74685	CUB (4);	0.000000	0.64402	D	0.000011	T	0.63212	0.2492	M	0.73598	2.24	0.80722	D	1	P;P	0.45768	0.728;0.866	B;P	0.46389	0.217;0.515	T	0.69412	-0.5152	10	0.72032	D	0.01	-18.1455	18.9328	0.92572	0.0:1.0:0.0:0.0	.	190;191	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	191;190	ENSP00000313088:E191K;ENSP00000299430:E190K	ENSP00000299430:E190K	E	-	1	0	NETO1	68612400	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.487000	0.81328	2.462000	0.83206	0.655000	0.94253	GAA		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		89	413	0	0	0	1	0	89	413				
C8A	731	broad.mit.edu	37	1	57340669	57340669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57340669C>T	ENST00000361249.3	+	3	315	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	73	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGGAACCATCTGCAGTGGTG	0.478																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(217-219)atC>atT		complement component 8, alpha polypeptide							88.0	82.0	84.0					1																	57340669		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57340669C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.219C>T	1.37:g.57340669C>T							p.I73I	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			3	315	+			73			TSP type-1 1.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.219C>T	CCDS606.1																																																																																				0.478	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		14	136	0	0	0	1	0	14	136				
RC3H2	54542	broad.mit.edu	37	9	125652725	125652725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125652725C>A	ENST00000373670.1	-	3	1049	c.449G>T	c.(448-450)aGa>aTa	p.R150I	RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I|RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	150					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGCATGGCTCTTACACGACC	0.502																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(448-450)aGa>aTa		ring finger and CCCH-type domains 2							104.0	105.0	105.0					9																	125652725		1961	4173	6134	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125652725C>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.449G>T	9.37:g.125652725C>A	ENSP00000362774:p.Arg150Ile					RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I	p.R150I			Q9HBD1	RC3H2_HUMAN			3	1049	-			150					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.449G>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269290	0.95429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;1.0;0.994	D;D;D;D	0.83275	0.979;0.944;0.996;0.975	D	0.98019	1.0370	10	0.87932	D	0	-25.9351	18.5797	0.91166	0.0:1.0:0.0:0.0	.	150;150;150;150	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	I	150;150;21;150;150;150	ENSP00000362774:R150I;ENSP00000349783:R150I;ENSP00000411767:R150I;ENSP00000362769:R150I;ENSP00000335150:R150I	ENSP00000335150:R150I	R	-	2	0	RC3H2	124692546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.636000	0.89361	0.491000	0.48974	AGA		0.502	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		79	281	1	0	1.10181e-30	1	1.29357e-30	79	281				
DHODH	1723	broad.mit.edu	37	16	72055168	72055168	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72055168G>A	ENST00000219240.4	+	5	684	c.663G>A	c.(661-663)cgG>cgA	p.R221R	DHODH_ENST00000573922.1_Intron|DHODH_ENST00000572887.1_Silent_p.R221R	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	221					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CCGGGCTGCGGAGCCTTCAGG	0.697																																						ENST00000572887.1																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(661-663)cgG>cgA		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)						20.0	28.0	26.0					16																	72055168		2046	4177	6223	SO:0001819	synonymous_variant	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72055168G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.663G>A	16.37:g.72055168G>A						DHODH_ENST00000219240.4_Silent_p.R221R|DHODH_ENST00000573922.1_Intron	p.R221R			Q02127	PYRD_HUMAN			5	840	+		Ovarian(137;0.125)	221					A8K8C8|Q6P176	Silent	SNP	ENST00000219240.4	37	c.663G>A	CCDS42192.1																																																																																				0.697	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		14	96	0	0	0	1	0	14	96				
KAT6A	7994	broad.mit.edu	37	8	41791219	41791219	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41791219T>G	ENST00000396930.3	-	18	5062	c.4519A>C	c.(4519-4521)Agt>Cgt	p.S1507R	KAT6A_ENST00000406337.1_Missense_Mutation_p.S1507R|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1507R	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1507					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTGTAGCCACTCTCAAGGGCA	0.562																																						ENST00000396930.3																			0											c.(4519-4521)Agt>Cgt		K(lysine) acetyltransferase 6A							146.0	121.0	129.0					8																	41791219		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791219T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4519A>C	8.37:g.41791219T>G	ENSP00000380136:p.Ser1507Arg					KAT6A_ENST00000265713.2_Missense_Mutation_p.S1507R|KAT6A_ENST00000406337.1_Missense_Mutation_p.S1507R	p.S1507R	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5062	-			1507					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4519A>C	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568113	0.45798	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60797	0.16;0.16;0.16	5.76	3.37	0.38596	.	0.170466	0.53938	D	0.000049	T	0.57784	0.2077	N	0.19112	0.55	0.33496	D	0.589302	D	0.69078	0.997	D	0.73380	0.98	T	0.65681	-0.6109	10	0.48119	T	0.1	-2.5365	8.962	0.35854	0.0:0.1623:0.0:0.8377	.	1507	Q92794	KAT6A_HUMAN	R	1507	ENSP00000265713:S1507R;ENSP00000385888:S1507R;ENSP00000380136:S1507R	ENSP00000265713:S1507R	S	-	1	0	KAT6A	41910376	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.835000	0.39181	0.524000	0.28502	0.528000	0.53228	AGT		0.562	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		99	363	0	0	0	1	0	99	363				
CILP2	148113	broad.mit.edu	37	19	19655592	19655592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19655592C>T	ENST00000291495.5	+	8	2323	c.2238C>T	c.(2236-2238)aaC>aaT	p.N746N	CILP2_ENST00000586018.1_Silent_p.N752N	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	746						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTACGCCAACGACAAGTTCA	0.687																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2254-2256)aaC>aaT		cartilage intermediate layer protein 2							17.0	19.0	19.0					19																	19655592		2192	4282	6474	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655592C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2238C>T	19.37:g.19655592C>T						CILP2_ENST00000291495.4_Silent_p.N746N	p.N752N			Q8IUL8	CILP2_HUMAN			8	2358	+			746					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2256C>T	CCDS12405.1																																																																																				0.687	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		37	197	0	0	0	1	0	37	197				
ABCA4	24	broad.mit.edu	37	1	94514490	94514490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94514490C>T	ENST00000370225.3	-	18	2763	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	893					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTTCCAGGGCTCTTTCTTCT	0.532																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2677-2679)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 4							136.0	123.0	127.0					1																	94514490		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94514490C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2677G>A	1.37:g.94514490C>T	ENSP00000359245:p.Ala893Thr					ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	p.A893T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	18	2763	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	893					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2677G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178708	0.38511	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91792	-2.79;-2.91	5.35	4.42	0.53409	.	1.078010	0.07078	N	0.836569	D	0.87434	0.6176	L	0.36672	1.1	0.22940	N	0.998535	D;B	0.58268	0.982;0.001	P;B	0.55615	0.78;0.005	T	0.76719	-0.2856	10	0.20519	T	0.43	.	9.2755	0.37696	0.0:0.9035:0.0:0.0965	.	819;893	F5H6E5;P78363	.;ABCA4_HUMAN	T	893;819	ENSP00000359245:A893T;ENSP00000437682:A819T	ENSP00000359245:A893T	A	-	1	0	ABCA4	94287078	0.030000	0.19436	1.000000	0.80357	0.960000	0.62799	0.969000	0.29370	2.642000	0.89623	0.655000	0.94253	GCC		0.532	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		28	223	0	0	0	1	0	28	223				
CLEC4F	165530	broad.mit.edu	37	2	71043855	71043855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71043855C>A	ENST00000272367.2	-	4	734	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.E220*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	220					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTGCATTTTCTAAGCCTCTG	0.413																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(658-660)Gaa>Taa		C-type lectin domain family 4, member F							84.0	82.0	83.0					2																	71043855		2203	4300	6503	SO:0001587	stop_gained	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043855C>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.658G>T	2.37:g.71043855C>A	ENSP00000272367:p.Glu220*					CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.E220*	p.E220*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	734	-			220					A4QPA5	Nonsense_Mutation	SNP	ENST00000272367.2	37	c.658G>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322102	0.41096	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	.	.	.	2.42	1.52	0.23074	.	0.343745	0.21127	N	0.079714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.3439	0.15998	0.0:0.8318:0.0:0.1682	.	.	.	.	X	220	.	ENSP00000272367:E220X	E	-	1	0	CLEC4F	70897363	0.002000	0.14202	0.110000	0.21437	0.340000	0.28889	0.282000	0.18829	0.575000	0.29434	0.313000	0.20887	GAA		0.413	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		16	283	1	0	1.5739e-10	1	1.67034e-10	16	283				
MAML1	9794	broad.mit.edu	37	5	179193073	179193073	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193073C>A	ENST00000292599.3	+	2	1325	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTCAGCCCCGGGCGGACA	0.622																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1060-1062)ccC>ccA		mastermind-like 1 (Drosophila)							35.0	37.0	36.0					5																	179193073		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193073C>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1062C>A	5.37:g.179193073C>A						MAML1_ENST00000503050.1_3'UTR	p.P354P	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1325	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	354						Silent	SNP	ENST00000292599.3	37	c.1062C>A	CCDS34315.1																																																																																				0.622	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		66	319	1	0	6.07242e-22	1	6.85844e-22	66	319				
IGSF1	3547	broad.mit.edu	37	X	130409168	130409168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130409168C>A	ENST00000361420.3	-	17	3356	c.3277G>T	c.(3277-3279)Gac>Tac	p.D1093Y	IGSF1_ENST00000370904.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1093	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AATGTTGAGTCTGGCAGTTCC	0.557																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3250-3252)Gac>Tac		immunoglobulin superfamily, member 1							132.0	132.0	132.0					X																	130409168		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409168C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3277G>T	X.37:g.130409168C>A	ENSP00000355010:p.Asp1093Tyr					IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.D1093Y	p.D1084Y			Q8N6C5	IGSF1_HUMAN			23	4160	-			1093			Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3250G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.838615	0.00573	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02812	4.15;4.15;4.15;4.15	4.83	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616837	0.16303	N	0.220364	T	0.03695	0.0105	N	0.05467	-0.045	0.31995	N	0.604081	D;D;D	0.89917	0.998;0.993;1.0	D;D;D	0.87578	0.984;0.924;0.998	T	0.10382	-1.0632	10	0.02654	T	1	.	8.2379	0.31638	0.0:0.8894:0.0:0.1106	.	1084;537;1093	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Y	1084;1093;1084;1098	ENSP00000359947:D1084Y;ENSP00000355010:D1093Y;ENSP00000359941:D1084Y;ENSP00000359940:D1098Y	ENSP00000355010:D1093Y	D	-	1	0	IGSF1	130236849	1.000000	0.71417	0.994000	0.49952	0.029000	0.11900	1.162000	0.31786	1.152000	0.42452	-0.215000	0.12644	GAC		0.557	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			263	818	1	0	8.53533e-96	1	1.09695e-95	263	818				
ZNF345	25850	broad.mit.edu	37	19	37368910	37368910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368910C>A	ENST00000529555.1	+	2	1966	c.1178C>A	c.(1177-1179)aCt>aAt	p.T393N	ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	393					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)			CTAATCCATACTGGTGAAAGA	0.423																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1177-1179)aCt>aAt		zinc finger protein 345							84.0	79.0	81.0					19																	37368910		2203	4300	6503	SO:0001583	missense	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.chr19:37368910C>A	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.1178C>A	19.37:g.37368910C>A	ENSP00000431202:p.Thr393Asn					ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N	p.T393N			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1966	+	Esophageal squamous(110;0.183)		393						Missense_Mutation	SNP	ENST00000529555.1	37	c.1178C>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714819	0.48622	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.26067	1.76;1.76	3.93	1.46	0.22682	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26484	0.0647	L	0.46670	1.46	0.24034	N	0.996108	P	0.34826	0.471	B	0.38683	0.279	T	0.26224	-1.0109	9	0.72032	D	0.01	.	11.4064	0.49900	0.0:0.6517:0.3483:0.0	.	393	Q14585	ZN345_HUMAN	N	393;393;157	ENSP00000431216:T393N;ENSP00000431202:T393N	ENSP00000442320:T157N	T	+	2	0	ZNF345	42060750	0.001000	0.12720	0.997000	0.53966	0.616000	0.37450	1.183000	0.32041	0.915000	0.36847	0.561000	0.74099	ACT		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			60	269	1	0	1.47633e-17	1	1.63113e-17	60	269				
EPPK1	83481	broad.mit.edu	37	8	144945010	144945010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144945010C>T	ENST00000525985.1	-	2	2483	c.2412G>A	c.(2410-2412)ccG>ccA	p.P804P				P58107	EPIPL_HUMAN	epiplakin 1	804						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCACCAGCGGGGACTGCG	0.637																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2410-2412)ccG>ccA		epiplakin 1							41.0	48.0	46.0					8																	144945010		2084	4201	6285	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945010C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2412G>A	8.37:g.144945010C>T							p.P804P			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2483	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		804					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.2412G>A																																																																																					0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		24	257	0	0	0	1	0	24	257				
RIPK4	54101	broad.mit.edu	37	21	43161678	43161678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161678G>A	ENST00000352483.2	-	9	1883	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	607					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R559*(1)|p.R607*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCACGCCTCGGCGCAGCAGG	0.662																																						ENST00000352483.2																			2	Substitution - Nonsense(2)	p.R559*(1)|p.R607*(1)	lung(2)	NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1819-1821)Cga>Tga		receptor-interacting serine-threonine kinase 4							42.0	39.0	40.0					21																	43161678		2203	4299	6502	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161678G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1819C>T	21.37:g.43161678G>A	ENSP00000330161:p.Arg607*					RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*	p.R607*			Q96T11	Q96T11_HUMAN			9	1883	-			559					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.1819C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.258731	0.97421	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	.	.	.	4.99	2.93	0.34026	.	0.088033	0.44688	D	0.000429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5631	6.8025	0.23758	0.0:0.1277:0.4676:0.4047	.	.	.	.	X	559;607;496;496;298	.	ENSP00000330975:R298X	R	-	1	2	RIPK4	42034747	1.000000	0.71417	0.187000	0.23214	0.881000	0.50899	5.506000	0.66993	1.055000	0.40461	0.655000	0.94253	CGA		0.662	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		73	215	0	0	0	1	0	73	215				
KIZ-AS1	101929591	broad.mit.edu	37	20	21142762	21142762	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142762A>C	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							CAGTGCTTAAATAAGTCTGAC	0.433																																						ENST00000591761.1																			0																				67.0	68.0	68.0					20																	21142762		1975	4170	6145			0							g.chr20:21142762A>C																													20.37:g.21142762A>C						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.433	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			49	219	0	0	0	1	0	49	219				
CRB1	23418	broad.mit.edu	37	1	197396679	197396679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197396679T>C	ENST00000367400.3	+	7	2359	c.2224T>C	c.(2224-2226)Ttt>Ctt	p.F742L	CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367397.1_Missense_Mutation_p.F123L|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	742	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTCCATGTTTGTCCGAAC	0.473																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(367-369)Ttt>Ctt		crumbs homolog 1 (Drosophila)							85.0	75.0	79.0					1																	197396679		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197396679T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2224T>C	1.37:g.197396679T>C	ENSP00000356370:p.Phe742Leu					CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L|CRB1_ENST00000367400.3_Missense_Mutation_p.F742L|CRB1_ENST00000543483.1_3'UTR	p.F123L			P82279	CRUM1_HUMAN			3	1225	+			742			EGF-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.367T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223179	0.58668	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.75	3.43	0.39272	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.81327	0.4799	L	0.55990	1.75	0.58432	D	0.999994	D;D;P;D	0.76494	0.999;0.99;0.889;0.997	D;D;B;D	0.77557	0.99;0.979;0.399;0.97	T	0.75952	-0.3136	9	0.10111	T	0.7	.	10.1145	0.42583	0.0:0.1356:0.0:0.8644	.	673;630;391;742	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	673;742;630;223;123;391	ENSP00000438786:F673L;ENSP00000356370:F742L;ENSP00000356369:F630L;ENSP00000444556:F223L;ENSP00000356367:F123L	ENSP00000356367:F123L	F	+	1	0	CRB1	195663302	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	4.662000	0.61525	0.438000	0.26450	-0.297000	0.09499	TTT		0.473	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		63	203	0	0	0	1	0	63	203				
RAPGEF4	11069	broad.mit.edu	37	2	173830410	173830410	+	Splice_Site	SNP	C	C	T	rs376523114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173830410C>T	ENST00000397081.3	+	9	962	c.819C>T	c.(817-819)caC>caT	p.H273H	RAPGEF4_ENST00000539331.1_Splice_Site_p.H120H|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273H|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000264111.6_Splice_Site_p.H272H|RAPGEF4_ENST00000535187.1_Splice_Site_p.H53H|RAPGEF4_ENST00000397087.3_Splice_Site_p.H129H|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120H|RAPGEF4_ENST00000538974.1_Splice_Site_p.H102H	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	273	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCTCAACCACGGTAAGATGA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21213	0.0		0.001	False		,,,				2504	0.0					ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e9+1		Rap guanine nucleotide exchange factor (GEF) 4							124.0	125.0	124.0					2																	173830410		2061	4216	6277	SO:0001630	splice_region_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173830410C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.820+1C>T	2.37:g.173830410C>T						RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Splice_Site_p.H102_splice|RAPGEF4_ENST00000397081.3_Splice_Site_p.H273_splice|RAPGEF4_ENST00000397087.3_Splice_Site_p.H129_splice|RAPGEF4_ENST00000535187.1_Splice_Site_p.H53_splice|RAPGEF4_ENST00000539331.1_Splice_Site_p.H120_splice|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120_splice|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273_splice	p.H272_splice			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		9	1003	+			273			DEP.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Splice_Site	SNP	ENST00000397081.3	37	c.817_splice	CCDS42775.1																																																																																				0.483	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	Silent	14	428	0	0	0	1	0	14	428				
ATP11A	23250	broad.mit.edu	37	13	113478723	113478723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113478723C>T	ENST00000487903.1	+	10	944	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	286					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTCAGAAGCGATCTGCCGT	0.458																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(856-858)Cga>Tga		ATPase, class VI, type 11A							98.0	96.0	97.0					13																	113478723		2203	4300	6503	SO:0001587	stop_gained	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113478723C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.856C>T	13.37:g.113478723C>T	ENSP00000420387:p.Arg286*					ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*	p.R286*			P98196	AT11A_HUMAN			10	944	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	286					Q5VXT2	Nonsense_Mutation	SNP	ENST00000487903.1	37	c.856C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427410	0.83667	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.	.	.	4.77	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6097	0.28122	0.465:0.4582:0.0:0.0768	.	.	.	.	X	286	.	ENSP00000283558:R286X	R	+	1	2	ATP11A	112526724	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	1.787000	0.38704	0.102000	0.17638	0.455000	0.32223	CGA		0.458	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		18	285	0	0	0	1	0	18	285				
SPTA1	6708	broad.mit.edu	37	1	158631186	158631186	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631186A>G	ENST00000368147.4	-	18	2658	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	826					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTTGGAAGCAATCAGGTCCT	0.428																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2476-2478)atT>atC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							140.0	131.0	134.0					1																	158631186		1877	4112	5989	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158631186A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2478T>C	1.37:g.158631186A>G						SPTA1_ENST00000368147.3_Silent_p.I826I	p.I826I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			18	2658	-	all_hematologic(112;0.0378)		826					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.2478T>C	CCDS41423.1																																																																																				0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		64	383	0	0	0	1	0	64	383				
CER1	9350	broad.mit.edu	37	9	14720322	14720322	+	Silent	SNP	G	G	A	rs533058950		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720322G>A	ENST00000380911.3	-	2	614	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	190	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAACAGACCCGCATTTCCCAA	0.458																																						ENST00000380911.3																			0				endometrium(2)|large_intestine(3)|lung(6)	11						c.(568-570)tgC>tgT		cerberus 1, DAN family BMP antagonist							88.0	75.0	80.0					9																	14720322		2203	4300	6503	SO:0001819	synonymous_variant	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720322G>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.570C>T	9.37:g.14720322G>A							p.C190C	NM_005454.2	NP_005445.1	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	614	-			190			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	37	c.570C>T	CCDS6476.1																																																																																				0.458	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		44	179	0	0	0	1	0	44	179				
RAPGEF2	9693	broad.mit.edu	37	4	160273849	160273849	+	Missense_Mutation	SNP	C	C	A	rs546918296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160273849C>A	ENST00000264431.4	+	21	3814	c.3395C>A	c.(3394-3396)gCt>gAt	p.A1132D		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1132	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.A1120V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TATACTTTGGCTCCCAGTGGT	0.373																																						ENST00000264431.4																			1	Substitution - Missense(1)	p.A1120V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(3394-3396)gCt>gAt		Rap guanine nucleotide exchange factor (GEF) 2							95.0	89.0	91.0					4																	160273849		1878	4101	5979	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160273849C>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3395C>A	4.37:g.160273849C>A	ENSP00000264431:p.Ala1132Asp						p.A1132D	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	21	3814	+	all_hematologic(180;0.24)		1132			Ser-rich.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3395C>A	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.93|10.93	1.489606|1.489606	0.26686|0.26686	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000510253	T|.	0.38560|.	1.13|.	6.07|6.07	5.21|5.21	0.72293|0.72293	.|.	0.101183|.	0.64402|.	D|.	0.000002|.	T|T	0.59404|0.59404	0.2191|0.2191	L|L	0.36672|0.36672	1.1|1.1	0.48135|0.48135	D|D	0.999599|0.999599	B|.	0.27068|.	0.167|.	B|.	0.26202|.	0.067|.	T|T	0.55679|0.55679	-0.8103|-0.8103	10|5	0.44086|.	T|.	0.13|.	.|.	17.2077|17.2077	0.86922|0.86922	0.0:0.874:0.126:0.0|0.0:0.874:0.126:0.0	.|.	1132|.	Q9Y4G8|.	RPGF2_HUMAN|.	D|I	1132|189	ENSP00000264431:A1132D|.	ENSP00000264431:A1132D|.	A|L	+|+	2|1	0|0	RAPGEF2|RAPGEF2	160493299|160493299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.546000|1.546000	0.36179|0.36179	1.536000|1.536000	0.49237|0.49237	0.655000|0.655000	0.94253|0.94253	GCT|CTC		0.373	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		10	357	1	0	6.40141e-05	1	6.5221e-05	10	357				
GPR139	124274	broad.mit.edu	37	16	20043983	20043983	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043983A>G	ENST00000570682.1	-	2	436	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	46					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATCACTGTCAAGATATTTGCT	0.473																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(136-138)Ttg>Ctg		G protein-coupled receptor 139							42.0	44.0	43.0					16																	20043983		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043983A>G	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.136T>C	16.37:g.20043983A>G							p.L46L	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	436	-			46					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.136T>C	CCDS32398.1																																																																																				0.473	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		6	167	0	0	0	1	0	6	167				
STAB1	23166	broad.mit.edu	37	3	52539356	52539356	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52539356G>A	ENST00000321725.6	+	14	1616	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	514	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGATCCTCGCCTCTACCGA	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1540-1542)Gcc>Acc		stabilin 1							51.0	50.0	50.0					3																	52539356		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539356G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1540G>A	3.37:g.52539356G>A	ENSP00000312946:p.Ala514Thr						p.A514T	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	14	1616	+			514			FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1540G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134423	0.56828	.	.	ENSG00000010327	ENST00000321725	T	0.72394	-0.65	5.36	4.47	0.54385	FAS1 domain (3);	0.220722	0.36740	N	0.002428	T	0.71290	0.3322	L	0.50993	1.605	0.37281	D	0.90782	B;D	0.61697	0.394;0.99	B;P	0.51297	0.078;0.665	T	0.73895	-0.3838	10	0.34782	T	0.22	.	12.5123	0.56013	0.0:0.0:0.8324:0.1676	.	514;514	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	T	514	ENSP00000312946:A514T	ENSP00000312946:A514T	A	+	1	0	STAB1	52514396	0.997000	0.39634	0.855000	0.33649	0.462000	0.32619	3.469000	0.53093	1.236000	0.43740	0.585000	0.79938	GCC		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		35	136	0	0	0	1	0	35	136				
FGF8	2253	broad.mit.edu	37	10	103530353	103530353	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103530353G>A	ENST00000344255.3	-	6	434	c.435C>T	c.(433-435)tgC>tgT	p.C145C	FGF8_ENST00000347978.2_Silent_p.C127C|FGF8_ENST00000320185.2_Silent_p.C156C|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.C116C			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	145					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCGTGAAGACGCAGTCCTTGC	0.632																																						ENST00000347978.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5						c.(379-381)tgC>tgT		fibroblast growth factor 8 (androgen-induced)							93.0	69.0	77.0					10																	103530353		2203	4300	6503	SO:0001819	synonymous_variant	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103530353G>A	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.435C>T	10.37:g.103530353G>A						FGF8_ENST00000320185.2_Silent_p.C156C|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.C116C|FGF8_ENST00000344255.3_Silent_p.C145C	p.C127C	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	550	-		Colorectal(252;0.122)	145					A1A514|Q14915|Q15766	Silent	SNP	ENST00000344255.3	37	c.381C>T	CCDS7517.1																																																																																				0.632	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		8	334	0	0	0	1	0	8	334				
CSMD3	114788	broad.mit.edu	37	8	113358415	113358415	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113358415A>C	ENST00000297405.5	-	41	6597	c.6353T>G	c.(6352-6354)tTc>tGc	p.F2118C	CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C|CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2118	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACCACTGAAGTCTGACAT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6352-6354)tTc>tGc		CUB and Sushi multiple domains 3							106.0	107.0	107.0					8																	113358415		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358415A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6353T>G	8.37:g.113358415A>C	ENSP00000297405:p.Phe2118Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C|CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C	p.F2118C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			41	6597	-			2118			CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6353T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235999	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.44	5.44	0.79542	CUB (5);	0.071493	0.56097	D	0.000031	T	0.29620	0.0739	L	0.34521	1.04	0.53005	D	0.999968	D;D;D	0.71674	0.998;0.973;0.994	D;P;D	0.66497	0.944;0.852;0.916	T	0.01259	-1.1403	10	0.39692	T	0.17	.	15.6637	0.77209	1.0:0.0:0.0:0.0	.	2014;2118;2078	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2078;2118;1388;2014;2048	ENSP00000345799:F2078C;ENSP00000297405:F2118C;ENSP00000341558:F1388C;ENSP00000412263:F2014C;ENSP00000343124:F2048C	ENSP00000297405:F2118C	F	-	2	0	CSMD3	113427591	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.097000	0.94193	2.285000	0.76669	0.528000	0.53228	TTC		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	321	0	0	0	1	0	12	321				
NOTCH3	4854	broad.mit.edu	37	19	15296115	15296115	+	Missense_Mutation	SNP	C	C	A	rs370975434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296115C>A	ENST00000263388.2	-	14	2324	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	750	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCATCGCTGCTGCATGTCCC	0.662																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2248-2250)aGc>aTc		notch 3							54.0	36.0	42.0					19																	15296115		2201	4297	6498	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15296115C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2249G>T	19.37:g.15296115C>A	ENSP00000263388:p.Ser750Ile						p.S750I	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		14	2324	-			750			EGF-like 19.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2249G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509253	0.04231	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.04	0.389	0.16269	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.518457	0.14525	N	0.314219	T	0.28499	0.0705	N	0.10707	0.03	0.24311	N	0.995084	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.10314	-1.0635	10	0.31617	T	0.26	.	1.9816	0.03427	0.1487:0.1388:0.4477:0.2648	.	753;750	Q59FL3;Q9UM47	.;NOTC3_HUMAN	I	750;752	ENSP00000263388:S750I	ENSP00000263388:S750I	S	-	2	0	NOTCH3	15157115	0.125000	0.22332	0.922000	0.36590	0.109000	0.19521	0.849000	0.27723	-0.056000	0.13221	-0.356000	0.07607	AGC		0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		57	211	1	0	9.77569e-14	1	1.05744e-13	57	211				
FLT4	2324	broad.mit.edu	37	5	180046743	180046743	+	Missense_Mutation	SNP	C	C	T	rs267606818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180046743C>T	ENST00000261937.6	-	18	2647	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	FLT4_ENST00000393347.3_Missense_Mutation_p.G857R|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Missense_Mutation_p.G857R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> R (in LMPH1A; loss of kinase activity). {ECO:0000269|PubMed:10835628}.		blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACCTTCCCGAAGGCGCCG	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	GRCh37	CM001158	FLT4	M		c.(2569-2571)Ggg>Agg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						54.0	57.0	56.0					5																	180046743		2203	4298	6501	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180046743C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2569G>A	5.37:g.180046743C>T	ENSP00000261937:p.Gly857Arg					FLT4_ENST00000393347.3_Missense_Mutation_p.G857R|FLT4_ENST00000502649.1_Missense_Mutation_p.G857R	p.G857R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	18	2647	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	857		G -> R (in LMPH1A; loss of kinase activity).	Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2569G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504333	0.85176	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.95103	-3.61;-3.61;-3.61	4.28	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98175	0.9397	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99612	1.0981	9	0.87932	D	0	.	17.2749	0.87112	0.0:1.0:0.0:0.0	.	667;857;857	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	R	857;857;857;667	ENSP00000261937:G857R;ENSP00000377016:G857R;ENSP00000426057:G857R	ENSP00000261937:G857R	G	-	1	0	FLT4	179979349	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	7.645000	0.83430	2.379000	0.81126	0.563000	0.77884	GGG		0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			135	458	0	0	0	1	0	135	458				
IL16	3603	broad.mit.edu	37	15	81592491	81592491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81592491C>T	ENST00000302987.4	+	13	2824	c.2824C>T	c.(2824-2826)Cta>Tta	p.L942L	IL16_ENST00000394660.2_Silent_p.L942L|IL16_ENST00000394652.2_Silent_p.L241L			Q14005	IL16_HUMAN	interleukin 16	942				LRL -> PRE (in Ref. 5). {ECO:0000305}.	immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGACCCGCTCCTAAGGCTGCT	0.652																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2824-2826)Cta>Tta		interleukin 16							31.0	35.0	33.0					15																	81592491		2203	4300	6503	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592491C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2824C>T	15.37:g.81592491C>T						IL16_ENST00000394652.2_Silent_p.L241L|IL16_ENST00000302987.4_Silent_p.L942L	p.L942L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3184	+			942	LRL -> PRE (in Ref. 4).				A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.2824C>T	CCDS42069.1																																																																																				0.652	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		62	244	0	0	0	1	0	62	244				
FCGBP	8857	broad.mit.edu	37	19	40357450	40357450	+	Missense_Mutation	SNP	G	G	A	rs371919834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357450G>A	ENST00000221347.6	-	34	15870	c.15863C>T	c.(15862-15864)aCg>aTg	p.T5288M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5288	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTCCGTTTTGCCATG	0.547																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15862-15864)aCg>aTg		Fc fragment of IgG binding protein		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	112.0	105.0	107.0		15863	-8.9	0.0	19		107	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	5288/5406	40357450	1,13005	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40357450G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15863C>T	19.37:g.40357450G>A	ENSP00000221347:p.Thr5288Met						p.T5288M	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15870	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5288			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15863C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082636	0.36758	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.60424	0.19	4.45	-8.91	0.00778	von Willebrand factor, type D domain (3);	3.408990	0.02289	U	0.070141	T	0.47284	0.1437	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.59177	-0.7503	10	0.36615	T	0.2	.	5.0479	0.14494	0.1611:0.0:0.5152:0.3237	.	5288	Q9Y6R7	FCGBP_HUMAN	M	5288	ENSP00000221347:T5288M	ENSP00000221347:T5288M	T	-	2	0	FCGBP	45049290	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.973000	0.01500	-2.355000	0.00614	-1.261000	0.01458	ACG		0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		70	231	0	0	0	1	0	70	231				
TCN1	6947	broad.mit.edu	37	11	59620480	59620480	+	Missense_Mutation	SNP	C	C	T	rs17851654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59620480C>T	ENST00000257264.3	-	9	1374	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	424	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAAGTTTTCTCCATTGCGG	0.413																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1270-1272)Gaa>Aaa		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						148.0	146.0	147.0					11																	59620480		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620480C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1270G>A	11.37:g.59620480C>T	ENSP00000257264:p.Glu424Lys						p.E424K	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			9	1374	-		all_epithelial(135;0.198)	424					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1270G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319130	0.60524	.	.	ENSG00000134827	ENST00000257264	T	0.30714	1.52	5.05	5.05	0.67936	.	0.192482	0.33290	N	0.005077	T	0.47581	0.1453	M	0.82193	2.58	0.25364	N	0.988751	D	0.54047	0.964	P	0.50314	0.637	T	0.51988	-0.8635	10	0.66056	D	0.02	7.206	13.7737	0.63039	0.0:1.0:0.0:0.0	.	424	P20061	TCO1_HUMAN	K	424	ENSP00000257264:E424K	ENSP00000257264:E424K	E	-	1	0	TCN1	59377056	0.665000	0.27466	0.932000	0.37286	0.107000	0.19398	2.374000	0.44274	2.620000	0.88729	0.650000	0.86243	GAA		0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		138	631	0	0	0	1	0	138	631				
NFATC3	4775	broad.mit.edu	37	16	68156483	68156483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156483C>T	ENST00000346183.3	+	2	721	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	NFATC3_ENST00000575270.1_Missense_Mutation_p.H233Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y|NFATC3_ENST00000349223.5_Missense_Mutation_p.H233Y|RP11-67A1.2_ENST00000548144.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	233	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGACTTGGACACTCATTATC	0.552																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(697-699)Cac>Tac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							104.0	103.0	103.0					16																	68156483		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156483C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.697C>T	16.37:g.68156483C>T	ENSP00000300659:p.His233Tyr					NFATC3_ENST00000575270.1_Missense_Mutation_p.H233Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.H233Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y	p.H233Y	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	921	+		Ovarian(137;0.0563)	233			3 X SP repeats.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.697C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855006	0.17106	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08720	3.06;3.06;3.06	5.28	3.28	0.37604	.	0.224215	0.46442	D	0.000294	T	0.08935	0.0221	L	0.46157	1.445	0.49051	D	0.999746	B;P;B;B	0.41313	0.437;0.745;0.437;0.437	B;B;B;B	0.40375	0.075;0.327;0.12;0.12	T	0.23583	-1.0184	9	.	.	.	-0.3688	10.0157	0.42014	0.1474:0.7807:0.0:0.0719	.	233;233;233;233	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	233	ENSP00000264008:H233Y;ENSP00000300659:H233Y;ENSP00000331324:H233Y	.	H	+	1	0	NFATC3	66713984	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	3.159000	0.50731	0.660000	0.30964	0.563000	0.77884	CAC		0.552	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		57	294	0	0	0	1	0	57	294				
SDK1	221935	broad.mit.edu	37	7	4213928	4213928	+	Silent	SNP	C	C	T	rs201560962		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4213928C>T	ENST00000404826.2	+	33	5014	c.4875C>T	c.(4873-4875)gcC>gcT	p.A1625A	SDK1_ENST00000389531.3_Silent_p.A1625A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTATGAAGCCGGGTCAGGCA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20451	0.001		0.0	False		,,,				2504	0.0					ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4873-4875)gcC>gcT		sidekick cell adhesion molecule 1		C		0,4406		0,0,2203	202.0	196.0	198.0		4875	-9.8	0.0	7		198	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1625/2214	4213928	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4213928C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4875C>T	7.37:g.4213928C>T						SDK1_ENST00000389531.3_Silent_p.A1625A	p.A1625A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	33	5014	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1625			Fibronectin type-III 10.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4875C>T	CCDS34590.1																																																																																				0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		212	957	0	0	0	1	0	212	957				
HMG20B	10362	broad.mit.edu	37	19	3576607	3576607	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3576607C>A	ENST00000333651.6	+	7	651	c.576C>A	c.(574-576)ttC>ttA	p.F192L	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	192					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAGAGTTCTTGGACCAAA	0.572																																						ENST00000333651.6																			0				cervix(1)	1						c.(574-576)ttC>ttA		high mobility group 20B							71.0	72.0	71.0					19																	3576607		2008	4159	6167	SO:0001583	missense	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3576607C>A	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.576C>A	19.37:g.3576607C>A	ENSP00000328269:p.Phe192Leu						p.F192L	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	7	651	+		Hepatocellular(1079;0.137)	192					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	ENST00000333651.6	37	c.576C>A	CCDS45919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.504858|4.504858	0.85176|0.85176	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949|ENST00000402569	D;T|.	0.85556|.	-2.0;-0.74|.	4.87|4.87	1.54|1.54	0.23209|0.23209	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.72510|0.72510	0.3469|0.3469	M|M	0.85197|0.85197	2.74|2.74	0.46749|0.46749	D|D	0.999183|0.999183	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.71076|0.71076	-0.4697|-0.4697	10|6	0.40728|0.87932	T|D	0.16|0	-23.6179|-23.6179	7.2297|7.2297	0.26036|0.26036	0.0:0.6278:0.0:0.3722|0.0:0.6278:0.0:0.3722	.|.	192;192|.	A8K0D5;Q9P0W2|.	.;HM20B_HUMAN|.	L|Y	192;192;209|23	ENSP00000410924:F192L;ENSP00000328269:F192L|.	ENSP00000262949:F209L|ENSP00000385987:S23Y	F|S	+|+	3|2	2|0	HMG20B|HMG20B	3527607|3527607	0.277000|0.277000	0.24220|0.24220	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	-0.222000|-0.222000	0.09190|0.09190	0.116000|0.116000	0.18110|0.18110	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.572	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339		25	75	1	0	3.83957e-06	1	3.94984e-06	25	75				
GDPGP1	390637	broad.mit.edu	37	15	90785069	90785069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90785069G>A	ENST00000558017.1	+	4	1349	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	GDPGP1_ENST00000329600.6_Missense_Mutation_p.R310Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	310					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										ACAGGGGTCCGAGTAATTCTG	0.537																																						ENST00000558017.1																			0											c.(928-930)cGa>cAa		GDP-D-glucose phosphorylase 1							88.0	87.0	87.0					15																	90785069		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90785069G>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.929G>A	15.37:g.90785069G>A	ENSP00000452793:p.Arg310Gln					GDPGP1_ENST00000329600.6_Missense_Mutation_p.R310Q	p.R310Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	1349	+			310						Missense_Mutation	SNP	ENST00000558017.1	37	c.929G>A	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359444	0.95854	.	.	ENSG00000183208	ENST00000329600	T	0.30182	1.54	5.62	5.62	0.85841	.	0.067449	0.64402	N	0.000018	T	0.57784	0.2077	M	0.76002	2.32	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.56529	-0.7964	10	0.48119	T	0.1	-4.3321	18.2287	0.89927	0.0:0.0:1.0:0.0	.	310	Q6ZNW5	VTC2_HUMAN	Q	310	ENSP00000368405:R310Q	ENSP00000368405:R310Q	R	+	2	0	C15orf58	88586073	1.000000	0.71417	0.963000	0.40424	0.946000	0.59487	6.936000	0.75892	2.661000	0.90470	0.655000	0.94253	CGA		0.537	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		75	303	0	0	0	1	0	75	303				
ICAM5	7087	broad.mit.edu	37	19	10406086	10406086	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10406086C>T	ENST00000221980.4	+	10	2358	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	765	Ig-like C2-type 9.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGGAAACTTCACGTTGACCT	0.687																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(2293-2295)ttC>ttT		intercellular adhesion molecule 5, telencephalin							12.0	15.0	14.0					19																	10406086		2152	4271	6423	SO:0001819	synonymous_variant	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10406086C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2295C>T	19.37:g.10406086C>T							p.F765F	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		10	2358	+			765			Ig-like C2-type 9.		Q9Y6F3	Silent	SNP	ENST00000221980.4	37	c.2295C>T	CCDS12233.1																																																																																				0.687	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		9	126	0	0	0	1	0	9	126				
OR8U1	219417	broad.mit.edu	37	11	56143190	56143190	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56143190T>G	ENST00000302270.1	+	1	91	c.91T>G	c.(91-93)Ttc>Gtc	p.F31V		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTTTGTGCTATTCTTATCCAT	0.448																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(91-93)Ttc>Gtc		olfactory receptor, family 8, subfamily U, member 1							240.0	211.0	220.0					11																	56143190		1909	4133	6042	SO:0001583	missense	219417							g.chr11:56143190T>G	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.91T>G	11.37:g.56143190T>G	ENSP00000304188:p.Phe31Val						p.F31V	NM_001005204.1	NP_001005204.1					1	91	+	Esophageal squamous(21;0.00448)								Missense_Mutation	SNP	ENST00000302270.1	37	c.91T>G	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	T	8.715	0.912903	0.17907	.	.	ENSG00000172199	ENST00000302270	T	0.04551	3.6	5.78	4.64	0.57946	.	0.000000	0.50627	D	0.000113	T	0.09862	0.0242	M	0.77406	2.37	0.30146	N	0.803476	B	0.24963	0.115	B	0.28784	0.094	T	0.02020	-1.1228	10	0.87932	D	0	.	11.5397	0.50659	0.1341:0.0:0.0:0.8659	.	31	Q8NH10	OR8U1_HUMAN	V	31	ENSP00000304188:F31V	ENSP00000304188:F31V	F	+	1	0	OR8U1	55899766	0.031000	0.19500	0.591000	0.28745	0.001000	0.01503	0.476000	0.22180	1.001000	0.39076	-0.350000	0.07774	TTC		0.448	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		141	668	0	0	0	1	0	141	668				
IKBKB	3551	broad.mit.edu	37	8	42174349	42174349	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42174349A>G	ENST00000520810.1	+	11	1238	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	351					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GAGGAGGACCAGGAGCTGCTG	0.592																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1051-1053)cAg>cGg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						86.0	78.0	81.0					8																	42174349		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42174349A>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1052A>G	8.37:g.42174349A>G	ENSP00000430684:p.Gln351Arg					IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R	p.Q351R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		11	1238	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	351					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1052A>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289614	0.95546	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.46	5.46	0.80206	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.77313	2.365	0.80722	D	1	P;D;P;D;D;D	0.89917	0.651;0.997;0.593;0.996;0.991;1.0	B;D;B;D;D;D	0.85130	0.198;0.972;0.229;0.944;0.917;0.997	T	0.80089	-0.1528	10	0.87932	D	0	.	15.4872	0.75575	1.0:0.0:0.0:0.0	.	292;349;128;302;351;351	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	R	351;292;349;128	ENSP00000430684:Q351R;ENSP00000404920:Q292R;ENSP00000430868:Q349R;ENSP00000369030:Q128R	ENSP00000369030:Q128R	Q	+	2	0	IKBKB	42293506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.195000	0.70347	0.528000	0.53228	CAG		0.592	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			30	148	0	0	0	1	0	30	148				
LRP8	7804	broad.mit.edu	37	1	53746293	53746293	+	Silent	SNP	G	G	A	rs558436036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53746293G>A	ENST00000306052.6	-	4	563	c.462C>T	c.(460-462)tgC>tgT	p.C154C	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000354412.3_Silent_p.C154C|LRP8_ENST00000347547.2_Silent_p.C154C|LRP8_ENST00000371454.2_Silent_p.C154C	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	154	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTCCACCCTCGCAGTCCTTCT	0.642																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(460-462)tgC>tgT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							110.0	81.0	91.0					1																	53746293		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53746293G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.462C>T	1.37:g.53746293G>A						LRP8_ENST00000354412.3_Silent_p.C154C|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.C154C|LRP8_ENST00000347547.2_Silent_p.C154C	p.C154C	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			4	563	-			154			LDL-receptor class A 3.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.462C>T	CCDS578.1																																																																																				0.642	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		49	210	0	0	0	1	0	49	210				
ZNF516	9658	broad.mit.edu	37	18	74154150	74154150	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154150C>T	ENST00000443185.2	-	3	1178	c.861G>A	c.(859-861)gaG>gaA	p.E287E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAACCAGGGCTCCTTGAACC	0.622																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(859-861)gaG>gaA		zinc finger protein 516							44.0	52.0	49.0					18																	74154150		2156	4255	6411	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154150C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.861G>A	18.37:g.74154150C>T						ZNF516_ENST00000524431.2_5'UTR	p.E287E	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1178	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	287						Silent	SNP	ENST00000443185.2	37	c.861G>A																																																																																					0.622	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		40	258	0	0	0	1	0	40	258				
SPECC1L	23384	broad.mit.edu	37	22	24709374	24709374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24709374G>A	ENST00000314328.9	+	4	532	c.247G>A	c.(247-249)Gca>Aca	p.A83T	SPECC1L_ENST00000437398.1_Missense_Mutation_p.A83T|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A83T|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.A83T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	83					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CCCATCTGCAGCACCTTCAGC	0.488																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(247-249)Gca>Aca		sperm antigen with calponin homology and coiled-coil domains 1-like							98.0	80.0	86.0					22																	24709374		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24709374G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.247G>A	22.37:g.24709374G>A	ENSP00000325785:p.Ala83Thr					SPECC1L_ENST00000416735.1_3'UTR|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A83T|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A83T|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.A83T	p.A83T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			4	532	+			83					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.247G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528348	0.44969	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.64991	-0.13;2.37;-0.13;2.88;0.46	5.09	4.06	0.47325	.	0.334721	0.32518	N	0.005999	T	0.38295	0.1035	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.22941	-1.0202	10	0.62326	D	0.03	-13.1645	7.611	0.28131	0.0837:0.0:0.7514:0.1649	.	83;83	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	T	111;83;83;83;83;22	ENSP00000393363:A83T;ENSP00000405671:A83T;ENSP00000325785:A83T;ENSP00000439633:A83T;ENSP00000414354:A22T	ENSP00000325785:A83T	A	+	1	0	SPECC1L	23039374	0.958000	0.32768	0.100000	0.21137	0.993000	0.82548	2.735000	0.47377	2.538000	0.85594	0.655000	0.94253	GCA		0.488	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		16	272	0	0	0	1	0	16	272				
SGSM2	9905	broad.mit.edu	37	17	2282760	2282760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282760G>A	ENST00000426855.2	+	23	3142	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.L1034L|SGSM2_ENST00000574563.1_Intron	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	989					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGAGATCCTGCGGATTGCCC	0.622																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(3100-3102)ctG>ctA		small G protein signaling modulator 2							59.0	49.0	53.0					17																	2282760		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2282760G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2967G>A	17.37:g.2282760G>A						SGSM2_ENST00000574563.1_Intron|SGSM2_ENST00000426855.2_Silent_p.L989L	p.L1034L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	24	3279	+			989					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.3102G>A	CCDS45570.1																																																																																				0.622	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		29	133	0	0	0	1	0	29	133				
ADAMTS19	171019	broad.mit.edu	37	5	129030537	129030537	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129030537A>C	ENST00000274487.4	+	19	3070	c.2925A>C	c.(2923-2925)ccA>ccC	p.P975P	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	975	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGAGCAACCATGTCAAACAA	0.373																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2923-2925)ccA>ccC		ADAM metallopeptidase with thrombospondin type 1 motif, 19							163.0	151.0	155.0					5																	129030537		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129030537A>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2925A>C	5.37:g.129030537A>C						CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	p.P975P	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	19	3070	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	975			TSP type-1 2.			Silent	SNP	ENST00000274487.4	37	c.2925A>C	CCDS4146.1																																																																																				0.373	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		105	403	0	0	0	1	0	105	403				
ATP5G3	518	broad.mit.edu	37	2	176043125	176043125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176043125G>T	ENST00000284727.4	-	5	3344	c.320C>A	c.(319-321)cCt>cAt	p.P107H	ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H|ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H|Y_RNA_ENST00000363251.1_RNA	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	107					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTTCAGCGAAGGGTTTCTAAA	0.363																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(319-321)cCt>cAt		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							97.0	92.0	94.0					2																	176043125		2203	4300	6503	SO:0001583	missense	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176043125G>T	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.320C>A	2.37:g.176043125G>T	ENSP00000284727:p.Pro107His					ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H|ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H	p.P107H	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		5	3344	-			107					B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.320C>A	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101759	0.76983	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.70164	-0.46;-0.46;-0.46	5.93	5.06	0.68205	ATPase, F0/V0 complex, subunit C (3);	0.045788	0.85682	D	0.000000	D	0.90463	0.7013	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95152	0.8273	10	0.87932	D	0	-12.4168	17.3342	0.87275	0.0:0.1249:0.8751:0.0	.	107	P48201	AT5G3_HUMAN	H	107	ENSP00000284727:P107H;ENSP00000387317:P107H;ENSP00000376324:P107H	ENSP00000284727:P107H	P	-	2	0	ATP5G3	175751371	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.808000	0.99193	1.525000	0.49052	0.655000	0.94253	CCT		0.363	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		37	373	1	0	2.42023e-17	1	2.67004e-17	37	373				
ASPH	444	broad.mit.edu	37	8	62578060	62578060	+	Intron	SNP	C	C	T	rs555432849		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62578060C>T	ENST00000379454.4	-	4	510				ASPH_ENST00000522603.1_Missense_Mutation_p.R128Q|ASPH_ENST00000389204.4_Missense_Mutation_p.R143Q|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000518068.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	cttatcctttcggacatcctc	0.408																																						ENST00000389204.4																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(427-429)cGa>cAa		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						144.0	116.0	125.0					8																	62578060		2180	4240	6420	SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62578060C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.323-11841G>A	8.37:g.62578060C>T						ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.R128Q|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000379454.4_Intron	p.R143Q	NM_020164.4	NP_064549.1	Q12797	ASPH_HUMAN			6	513	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	155			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.428G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	1.577	-0.532715	0.04112	.	.	ENSG00000198363	ENST00000389204;ENST00000522603	T;T	0.54866	0.55;0.55	4.82	1.99	0.26369	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.32244	N	0.57236	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.30446	-0.9978	8	0.27785	T	0.31	.	5.6765	0.17751	0.1561:0.6738:0.0:0.1701	.	128;143	Q12797-4;Q12797-3	.;.	Q	143;128	ENSP00000373856:R143Q;ENSP00000436188:R128Q	ENSP00000373856:R143Q	R	-	2	0	ASPH	62740614	0.371000	0.25056	0.191000	0.23289	0.071000	0.16799	0.621000	0.24418	0.298000	0.22638	-0.181000	0.13052	CGA		0.408	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		7	33	0	0	0	1	0	7	33				
RNF111	54778	broad.mit.edu	37	15	59323801	59323801	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59323801C>T	ENST00000557998.1	+	2	1067	c.780C>T	c.(778-780)gaC>gaT	p.D260D	RNF111_ENST00000559209.1_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D|RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000348370.4_Silent_p.D260D	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	260	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGAGAATGACCTCAGCAGTG	0.413																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(778-780)gaC>gaT		ring finger protein 111							134.0	131.0	132.0					15																	59323801		2192	4291	6483	SO:0001819	synonymous_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323801C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.780C>T	15.37:g.59323801C>T						RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000557998.1_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D|RNF111_ENST00000559209.1_Silent_p.D260D	p.D260D	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	1213	+			260			Interaction with AXIN1.|Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	c.780C>T	CCDS58366.1																																																																																				0.413	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		96	515	0	0	0	1	0	96	515				
RARB	5915	broad.mit.edu	37	3	25502706	25502706	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25502706C>A	ENST00000404969.1	+	2	201	c.201C>A	c.(199-201)agC>agA	p.S67R	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.S60R|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	67	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAGCACCAGCTCTGAGGAAC	0.448																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(178-180)agC>agA		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						96.0	103.0	100.0					3																	25502706		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25502706C>A	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.201C>A	3.37:g.25502706C>A	ENSP00000385865:p.Ser67Arg					RARB_ENST00000404969.1_Missense_Mutation_p.S67R|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR	p.S60R	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			2	601	+			67			Modulating.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.180C>A		.	.	.	.	.	.	.	.	.	.	C	26.4	4.730521	0.89390	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92858	-2.9;-3.12;-3.09	5.71	4.73	0.59995	.	0.088824	0.85682	D	0.000000	D	0.92740	0.7692	L	0.56280	1.765	0.53688	D	0.999978	D;D	0.62365	0.991;0.977	D;P	0.68039	0.955;0.905	D	0.91640	0.5326	10	0.72032	D	0.01	.	3.7645	0.08617	0.0:0.667:0.0:0.333	.	67;60	P10826;F1D8S6	RARB_HUMAN;.	R	67;67;67;60	ENSP00000373282:S67R;ENSP00000385865:S67R;ENSP00000332296:S60R	ENSP00000332296:S60R	S	+	3	2	RARB	25477710	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.723000	0.93209	0.644000	0.83932	AGC		0.448	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		67	356	1	0	2.72615e-36	1	3.26283e-36	67	356				
PKN1	5585	broad.mit.edu	37	19	14568859	14568859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14568859G>A	ENST00000242783.6	+	8	1347	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	CTC-548K16.6_ENST00000589702.1_RNA|PKN1_ENST00000342216.4_Silent_p.V400V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	394	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGCACTGTGCTTAAGCTGG	0.552																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1180-1182)gtG>gtA		protein kinase N1							147.0	143.0	144.0					19																	14568859		1984	4165	6149	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14568859G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1182G>A	19.37:g.14568859G>A						PKN1_ENST00000342216.4_Silent_p.V400V	p.V394V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			8	1347	+			394			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.1182G>A	CCDS42513.1																																																																																				0.552	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		206	901	0	0	0	1	0	206	901				
CER1	9350	broad.mit.edu	37	9	14720268	14720268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720268G>A	ENST00000380911.3	-	2	668	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	208	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CAGGCAAACAGTGAGAGCAGG	0.522																																						ENST00000380911.3																			0				endometrium(2)|large_intestine(3)|lung(6)	11						c.(622-624)caC>caT		cerberus 1, DAN family BMP antagonist							137.0	110.0	119.0					9																	14720268		2203	4300	6503	SO:0001819	synonymous_variant	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720268G>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.624C>T	9.37:g.14720268G>A							p.H208H	NM_005454.2	NP_005445.1	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	668	-			208			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Silent	SNP	ENST00000380911.3	37	c.624C>T	CCDS6476.1																																																																																				0.522	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		49	242	0	0	0	1	0	49	242				
C15orf54	400360	broad.mit.edu	37	15	39544706	39544706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39544706C>T	ENST00000318578.3	+	2	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S	C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	124										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGCACAGAAACCTCAGTCTCC	0.458																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(370-372)Cct>Tct		chromosome 15 open reading frame 54							133.0	119.0	124.0					15																	39544706		2200	4297	6497	SO:0001583	missense	400360							g.chr15:39544706C>T		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.370C>T	15.37:g.39544706C>T	ENSP00000323686:p.Pro124Ser					C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	p.P124S	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	738	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	124					B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	c.370C>T	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687291	0.14973	.	.	ENSG00000175746	ENST00000318578	T	0.40756	1.02	5.07	2.71	0.32032	.	.	.	.	.	T	0.23965	0.0580	N	0.08118	0	0.09310	N	0.999994	B	0.12013	0.005	B	0.10450	0.005	T	0.22800	-1.0206	9	0.87932	D	0	.	9.227	0.37414	0.6178:0.3822:0.0:0.0	.	124	Q8N8G6	CO054_HUMAN	S	124	ENSP00000323686:P124S	ENSP00000323686:P124S	P	+	1	0	C15orf54	37331998	0.710000	0.27896	0.189000	0.23252	0.044000	0.14063	1.137000	0.31479	0.387000	0.25024	-0.262000	0.10625	CCT		0.458	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		111	509	0	0	0	1	0	111	509				
DNTTIP1	116092	broad.mit.edu	37	20	44430041	44430041	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44430041C>T	ENST00000372622.3	+	6	510	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	148						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TTTCTTTTAGCGTGGCCGTCA	0.522																																						ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.e6-1		deoxynucleotidyltransferase, terminal, interacting protein 1							98.0	93.0	95.0					20																	44430041		2203	4300	6503	SO:0001630	splice_region_variant	116092					nucleus		g.chr20:44430041C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.442-1C>T	20.37:g.44430041C>T							p.R148_splice	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			6	510	+		Myeloproliferative disorder(115;0.0122)	148					B2RA18|Q96DE3|Q9BQP2|Q9H148	Splice_Site	SNP	ENST00000372622.3	37	c.441_splice	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.970557|3.970557	0.74246|0.74246	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000372622;ENST00000415790	.|T;T	.|0.52057	.|0.8;0.68	6.06|6.06	5.08|5.08	0.68730|0.68730	.|.	.|0.165435	.|0.46758	.|D	.|0.000273	T|T	0.63343|0.63343	0.2503|0.2503	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69824	.|0.966	T|T	0.60672|0.60672	-0.7217|-0.7217	5|9	.|.	.|.	.|.	-10.899|-10.899	13.2985|13.2985	0.60311|0.60311	0.2813:0.7187:0.0:0.0|0.2813:0.7187:0.0:0.0	.|.	.|148	.|Q9H147	.|TDIF1_HUMAN	V|C	98|148;108	.|ENSP00000361705:R148C;ENSP00000392509:R108C	.|.	A|R	+|+	2|1	0|0	DNTTIP1|DNTTIP1	43863448|43863448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	2.741000|2.741000	0.47426|0.47426	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	Missense_Mutation	89	415	0	0	0	1	0	89	415				
ZW10	9183	broad.mit.edu	37	11	113610060	113610060	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113610060T>G	ENST00000200135.3	-	12	1772	c.1628A>C	c.(1627-1629)aAc>aCc	p.N543T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	543					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CATACAGTTGTTGTGATGAAT	0.488																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(1627-1629)aAc>aCc		zw10 kinetochore protein							158.0	140.0	146.0					11																	113610060		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113610060T>G	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1628A>C	11.37:g.113610060T>G	ENSP00000200135:p.Asn543Thr						p.N543T	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	12	1772	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	543					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.1628A>C	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310377	0.81358	.	.	ENSG00000086827	ENST00000200135	T	0.75704	-0.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88631	0.3169	10	0.87932	D	0	-19.3846	15.9494	0.79820	0.0:0.0:0.0:1.0	.	543	O43264	ZW10_HUMAN	T	543	ENSP00000200135:N543T	ENSP00000200135:N543T	N	-	2	0	ZW10	113115270	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.698000	0.84413	2.167000	0.68274	0.482000	0.46254	AAC		0.488	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		73	349	0	0	0	1	0	73	349				
CFAP46	54777	broad.mit.edu	37	10	134622044	134622044	+	Missense_Mutation	SNP	G	G	A	rs138118152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134622044G>A	ENST00000368586.5	-	58	8129	c.8029C>T	c.(8029-8031)Cgg>Tgg	p.R2677W	TTC40_ENST00000263170.5_Missense_Mutation_p.R838W	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTCCAGCCCCGACGCAGACCC	0.677																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(8029-8031)Cgg>Tgg		tetratricopeptide repeat domain 40		G	TRP/ARG	0,4406		0,0,2203	37.0	45.0	42.0		2965	-2.0	0.0	10	dbSNP_134	42	1,8595	1.2+/-3.3	0,1,4297	no	missense	C10orf92	NM_001200049.1	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	989/1028	134622044	1,13001	2203	4298	6501	SO:0001583	missense	54777							g.chr10:134622044G>A																												ENST00000368586.5:c.8029C>T	10.37:g.134622044G>A	ENSP00000357575:p.Arg2677Trp					TTC40_ENST00000263170.5_Missense_Mutation_p.R838W	p.R2677W	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			58	8129	-			838						Missense_Mutation	SNP	ENST00000368586.5	37	c.8029C>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925596	0.18056	0.0	1.16E-4	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.16457	2.68;2.34	1.36	-2.04	0.07343	.	.	.	.	.	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.33369	-0.9871	9	0.87932	D	0	.	2.7259	0.05214	0.2584:0.386:0.3556:0.0	.	838	Q8IYW2	CJ092_HUMAN	W	2677;838	ENSP00000357575:R2677W;ENSP00000263170:R838W	ENSP00000263170:R838W	R	-	1	2	C10orf93	134472034	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-4.662000	0.00201	-0.144000	0.11314	0.478000	0.44815	CGG		0.677	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			132	441	0	0	0	1	0	132	441				
EML1	2009	broad.mit.edu	37	14	100404186	100404186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100404186G>A	ENST00000262233.6	+	20	2267	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	EML1_ENST00000334192.4_Missense_Mutation_p.V729M|EML1_ENST00000327921.9_Missense_Mutation_p.V698M	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	710	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGTCGTAAGTGTGGAAACTAC	0.483																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2128-2130)Gtg>Atg		echinoderm microtubule associated protein like 1							269.0	231.0	244.0					14																	100404186		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100404186G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2128G>A	14.37:g.100404186G>A	ENSP00000262233:p.Val710Met					EML1_ENST00000327921.9_Missense_Mutation_p.V698M|EML1_ENST00000334192.4_Missense_Mutation_p.V729M	p.V710M	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			20	2267	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	710					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2128G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993268	0.54041	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.18174	2.23;2.23;2.23	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	N	0.13098	0.295	0.80722	D	1	B;B;B	0.30326	0.156;0.004;0.276	B;B;B	0.39185	0.151;0.004;0.293	T	0.16958	-1.0385	10	0.40728	T	0.16	-8.1253	18.1469	0.89661	0.0:0.0:1.0:0.0	.	698;710;729	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	M	698;710;729;729	ENSP00000327384:V698M;ENSP00000262233:V710M;ENSP00000334314:V729M	ENSP00000262233:V710M	V	+	1	0	EML1	99473939	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.549000	0.82163	2.364000	0.80123	0.561000	0.74099	GTG		0.483	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		79	427	0	0	0	1	0	79	427				
FGF23	8074	broad.mit.edu	37	12	4479908	4479908	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4479908C>T	ENST00000237837.1	-	3	502	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	119					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTTTTCCAGCGTCTGGTGTT	0.607																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(355-357)acG>acA		fibroblast growth factor 23							103.0	100.0	101.0					12																	4479908		2203	4300	6503	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479908C>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.357G>A	12.37:g.4479908C>T							p.T119T	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	502	-			119					Q4V758	Silent	SNP	ENST00000237837.1	37	c.357G>A	CCDS8526.1																																																																																				0.607	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			87	587	0	0	0	1	0	87	587				
KIF17	57576	broad.mit.edu	37	1	21014359	21014359	+	Missense_Mutation	SNP	G	G	A	rs534971002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21014359G>A	ENST00000247986.2	-	8	1770	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.P487L|KIF17_ENST00000375044.1_Missense_Mutation_p.P387L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	487					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAAAGCAGGCGGGTACTCAGC	0.547													g|||	1	0.000199681	0.0	0.0	5008	,	,		17380	0.0		0.0	False		,,,				2504	0.001					ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1459-1461)cCg>cTg		kinesin family member 17							78.0	72.0	74.0					1																	21014359		2203	4298	6501	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014359G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1460C>T	1.37:g.21014359G>A	ENSP00000247986:p.Pro487Leu					KIF17_ENST00000400463.3_Missense_Mutation_p.P487L|KIF17_ENST00000375044.1_Missense_Mutation_p.P387L|KIF17_ENST00000490034.1_Intron	p.P487L			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1770	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	487					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.1460C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446381	0.12223	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.69806	-0.43;-0.32;-0.33	4.93	-0.286	0.12862	.	1.577840	0.04772	U	0.428171	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20438	-1.0275	10	0.21540	T	0.41	.	4.1203	0.10103	0.3776:0.1698:0.4526:0.0	.	487;487	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	387;487;487	ENSP00000364184:P387L;ENSP00000383311:P487L;ENSP00000247986:P487L	ENSP00000247986:P487L	P	-	2	0	KIF17	20886946	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	0.213000	0.17521	0.290000	0.22444	0.491000	0.48974	CCG		0.547	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		14	406	0	0	0	1	0	14	406				
TATDN2	9797	broad.mit.edu	37	3	10312335	10312335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10312335G>A	ENST00000287652.4	+	4	2520	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	490					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGAGCCAAGCCTAGAGGAG	0.498																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1468-1470)aGc>aAc		TatD DNase domain containing 2							67.0	65.0	66.0					3																	10312335		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312335G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1469G>A	3.37:g.10312335G>A	ENSP00000287652:p.Ser490Asn					TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N|RP11-438J1.1_ENST00000450534.1_3'UTR	p.S490N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2520	+			490					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1469G>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495864	0.26774	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.23950	1.88;1.88	5.0	2.21	0.28008	.	1.020500	0.07845	N	0.963704	T	0.17023	0.0409	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28808	-1.0032	10	0.54805	T	0.06	-3.2363	3.5254	0.07757	0.2796:0.0:0.5426:0.1779	.	490	Q93075	TATD2_HUMAN	N	490	ENSP00000287652:S490N;ENSP00000408736:S490N	ENSP00000287652:S490N	S	+	2	0	TATDN2	10287335	0.012000	0.17670	0.117000	0.21633	0.411000	0.31082	0.275000	0.18698	0.638000	0.30545	0.644000	0.83932	AGC		0.498	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		66	270	0	0	0	1	0	66	270				
CRISP1	167	broad.mit.edu	37	6	49819742	49819742	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49819742A>C	ENST00000335847.4	-	3	268	c.167T>G	c.(166-168)gTt>gGt	p.V56G	CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	56	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCTGGTGGAACTACTCTTCT	0.378																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(166-168)gTt>gGt		cysteine-rich secretory protein 1							175.0	162.0	167.0					6																	49819742		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49819742A>C	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.167T>G	6.37:g.49819742A>C	ENSP00000338276:p.Val56Gly					CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G|CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G	p.V56G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			3	268	-	Lung NSC(77;0.0358)		56					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.167T>G	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667597	0.29604	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.06	-2.72	0.05968	CAP domain (3);	2.580360	0.01107	N	0.005496	T	0.01029	0.0034	N	0.03224	-0.385	0.09310	N	1	B;P	0.44521	0.444;0.837	B;B	0.36030	0.086;0.216	T	0.24297	-1.0164	9	.	.	.	.	3.2892	0.06943	0.3582:0.0:0.3343:0.3075	.	56;56	P54107-2;P54107	.;CRIS1_HUMAN	G	56	ENSP00000425020:V56G;ENSP00000338276:V56G;ENSP00000348044:V56G;ENSP00000331317:V56G;ENSP00000427589:V56G;ENSP00000441798:V56G	.	V	-	2	0	CRISP1	49927701	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.585000	0.00423	-0.638000	0.05509	-0.256000	0.11100	GTT		0.378	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		83	349	0	0	0	1	0	83	349				
PRTG	283659	broad.mit.edu	37	15	55964693	55964693	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964693C>A	ENST00000389286.4	-	11	2038	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAATGGGCCCATTCTCCTG	0.463																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1990-1992)gGg>gTg		protogenin							130.0	134.0	133.0					15																	55964693		1949	4137	6086	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55964693C>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1991G>T	15.37:g.55964693C>A	ENSP00000373937:p.Gly664Val						p.G664V	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	11	2038	-			664			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1991G>T	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459123	0.63401	.	.	ENSG00000166450	ENST00000389286	T	0.56776	0.44	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.229954	0.43416	D	0.000576	T	0.49762	0.1576	L	0.46670	1.46	0.80722	D	1	P	0.49185	0.92	B	0.42462	0.388	T	0.44065	-0.9352	10	0.26408	T	0.33	-15.9296	18.4581	0.90728	0.0:1.0:0.0:0.0	.	664	Q2VWP7	PRTG_HUMAN	V	664	ENSP00000373937:G664V	ENSP00000373937:G664V	G	-	2	0	PRTG	53751985	0.997000	0.39634	0.919000	0.36401	0.733000	0.41908	4.482000	0.60257	2.591000	0.87537	0.650000	0.86243	GGG		0.463	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		18	442	1	0	8.28177e-16	1	9.06825e-16	18	442				
KLC2	64837	broad.mit.edu	37	11	66033168	66033168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66033168C>T	ENST00000417856.1	+	12	1620	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	RAB1B_ENST00000527397.1_5'Flank|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000421552.1_Silent_p.Y382Y|KLC2_ENST00000394067.2_Silent_p.Y459Y|KLC2_ENST00000394066.2_Silent_p.Y382Y|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Silent_p.Y320Y|KLC2_ENST00000316924.5_Silent_p.Y459Y|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	459					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGCCCTATACCGGCGCCAGG	0.652																																						ENST00000394065.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(958-960)taC>taT		kinesin light chain 2							32.0	31.0	31.0					11																	66033168		2200	4295	6495	SO:0001819	synonymous_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66033168C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1377C>T	11.37:g.66033168C>T						KLC2_ENST00000421552.1_Silent_p.Y382Y|KLC2_ENST00000394067.2_Silent_p.Y459Y|KLC2_ENST00000417856.1_Silent_p.Y459Y|KLC2_ENST00000316924.5_Silent_p.Y459Y|KLC2_ENST00000394066.2_Silent_p.Y382Y|KLC2_ENST00000394078.1_Intron	p.Y320Y			Q9H0B6	KLC2_HUMAN			10	1978	+			459					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	37	c.960C>T	CCDS8130.1																																																																																				0.652	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		12	242	0	0	0	1	0	12	242				
ELMOD1	55531	broad.mit.edu	37	11	107535879	107535879	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107535879C>T	ENST00000265840.7	+	12	1226	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	ELMOD1_ENST00000443271.2_Silent_p.L313L|ELMOD1_ENST00000531234.1_Silent_p.L315L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	321					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGACATGGCGCTGTGCCCACA	0.478																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(961-963)Ctg>Ttg		ELMO/CED-12 domain containing 1							131.0	139.0	137.0					11																	107535879		2062	4204	6266	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107535879C>T	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.961C>T	11.37:g.107535879C>T						ELMOD1_ENST00000443271.2_Silent_p.L313L|ELMOD1_ENST00000531234.1_Silent_p.L315L	p.L321L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	12	1226	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	321					B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.961C>T	CCDS44723.1																																																																																				0.478	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		129	558	0	0	0	1	0	129	558				
NOTCH1	4851	broad.mit.edu	37	9	139412240	139412240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139412240C>A	ENST00000277541.6	-	8	1480	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	469	EGF-like 12; 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)	p.D469N(2)		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)		CCAATCTGGTCCAGGCAGGTG	0.677			"""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		2	Substitution - Missense(2)	p.D469N(2)	breast(2)	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.(1405-1407)Gac>Tac		notch 1							57.0	64.0	61.0					9																	139412240		2138	4230	6368	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.chr9:139412240C>A	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.1405G>T	9.37:g.139412240C>A	ENSP00000277541:p.Asp469Tyr	HNSCC(8;0.001)					p.D469Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1480	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	469			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1405G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444221	0.83993	.	.	ENSG00000148400	ENST00000277541	D	0.92048	-2.96	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97256	0.9103	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98713	1.0705	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	469	P46531	NOTC1_HUMAN	Y	469	ENSP00000277541:D469Y	ENSP00000277541:D469Y	D	-	1	0	NOTCH1	138532061	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.258000	0.78371	2.088000	0.63022	0.462000	0.41574	GAC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		76	327	1	0	6.11987e-43	1	7.46226e-43	76	327				
ASH1L	55870	broad.mit.edu	37	1	155408590	155408590	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155408590A>C	ENST00000368346.3	-	5	5995	c.5356T>G	c.(5356-5358)Ttg>Gtg	p.L1786V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1786	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGCTTGTCAACTTTTCAGAT	0.473																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5356-5358)Ttg>Gtg		ash1 (absent, small, or homeotic)-like (Drosophila)							110.0	105.0	107.0					1																	155408590		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408590A>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5356T>G	1.37:g.155408590A>C	ENSP00000357330:p.Leu1786Val					ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V	p.L1786V			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	5995	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1786			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5356T>G		.	.	.	.	.	.	.	.	.	.	A	13.55	2.271183	0.40194	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88509	-2.39;-2.39	5.04	5.04	0.67666	.	0.308755	0.23714	N	0.045287	T	0.66616	0.2807	N	0.14661	0.345	0.80722	D	1	B;B	0.21606	0.034;0.058	B;B	0.18871	0.01;0.023	T	0.65043	-0.6264	10	0.24483	T	0.36	.	9.4335	0.38624	0.9199:0.0:0.0801:0.0	.	1786;1786	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	1786	ENSP00000357330:L1786V;ENSP00000376204:L1786V	ENSP00000357330:L1786V	L	-	1	2	ASH1L	153675214	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.828000	0.39111	2.253000	0.74438	0.533000	0.62120	TTG		0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		123	555	0	0	0	1	0	123	555				
TRAT1	50852	broad.mit.edu	37	3	108572597	108572597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108572597C>A	ENST00000295756.6	+	6	664	c.434C>A	c.(433-435)gCc>gAc	p.A145D	TRAT1_ENST00000426646.1_Missense_Mutation_p.A108D	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	145					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GCAATAGATGCCAGCGTTTCT	0.448																																						ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(433-435)gCc>gAc		T cell receptor associated transmembrane adaptor 1							100.0	92.0	95.0					3																	108572597		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572597C>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.434C>A	3.37:g.108572597C>A	ENSP00000295756:p.Ala145Asp					TRAT1_ENST00000426646.1_Missense_Mutation_p.A108D	p.A145D	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			6	664	+			145					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.434C>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485794	0.44147	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.35789	1.29;1.46	5.09	2.31	0.28768	.	0.794703	0.11559	N	0.551876	T	0.36826	0.0981	L	0.44542	1.39	0.09310	N	1	P;P	0.52061	0.95;0.911	P;P	0.50082	0.63;0.63	T	0.14839	-1.0458	10	0.54805	T	0.06	-10.9248	6.4161	0.21717	0.0:0.6917:0.0:0.3083	.	108;145	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	D	145;108	ENSP00000295756:A145D;ENSP00000410097:A108D	ENSP00000295756:A145D	A	+	2	0	TRAT1	110055287	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.085000	0.14912	0.312000	0.23038	-0.136000	0.14681	GCC		0.448	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		7	330	1	0	2.0095e-06	1	2.07161e-06	7	330				
HPS4	89781	broad.mit.edu	37	22	26861460	26861460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26861460G>T	ENST00000398145.2	-	10	1380	c.764C>A	c.(763-765)gCc>gAc	p.A255D	HPS4_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.A250D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	255					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGACTAATGGCTTCCTCTTT	0.512									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(763-765)gCc>gAc		Hermansky-Pudlak syndrome 4							134.0	117.0	123.0					22																	26861460		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26861460G>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.764C>A	22.37:g.26861460G>T	ENSP00000381213:p.Ala255Asp					HPS4_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000402105.3_Missense_Mutation_p.A250D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D	p.A255D	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			10	1380	-			255					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.764C>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614690	0.28712	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;D;T;T;D	0.88741	1.36;-2.42;1.36;1.36;-2.42	4.6	1.76	0.24704	.	1.063930	0.07167	N	0.851742	D	0.91026	0.7177	L	0.55481	1.735	0.09310	N	1	D;P;P;D;B;P	0.69078	0.997;0.944;0.944;0.997;0.413;0.944	D;P;P;D;B;P	0.64410	0.925;0.733;0.66;0.925;0.319;0.66	T	0.77640	-0.2512	10	0.36615	T	0.2	-6.8662	5.997	0.19499	0.4162:0.0:0.5838:0.0	.	255;255;255;255;268;250	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	D	255;268;250;255;273;273	ENSP00000381213:A255D;ENSP00000381210:A268D;ENSP00000384185:A250D;ENSP00000338457:A255D;ENSP00000415081:A273D	ENSP00000325840:A273D	A	-	2	0	HPS4	25191460	0.811000	0.29063	0.177000	0.23020	0.024000	0.10985	1.182000	0.32029	0.262000	0.21774	0.655000	0.94253	GCC		0.512	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		60	277	1	0	4.46356e-37	1	5.35602e-37	60	277				
TMEM200A	114801	broad.mit.edu	37	6	130762475	130762475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130762475C>A	ENST00000296978.3	+	3	1779	c.908C>A	c.(907-909)cCc>cAc	p.P303H	TMEM200A_ENST00000392429.1_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	303						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTGATGAGCCCAGTATAGAT	0.408																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(907-909)cCc>cAc		transmembrane protein 200A							128.0	124.0	125.0					6																	130762475		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762475C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.908C>A	6.37:g.130762475C>A	ENSP00000296978:p.Pro303His					TMEM200A_ENST00000296978.3_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	p.P303H	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3286	+			303					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.908C>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400639	0.83120	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.65224	-0.6220	9	0.72032	D	0.01	-33.6773	20.3368	0.98748	0.0:1.0:0.0:0.0	.	303	Q86VY9	T200A_HUMAN	H	303	.	ENSP00000296978:P303H	P	+	2	0	TMEM200A	130804168	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	CCC		0.408	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		71	341	1	0	2.23399e-28	1	2.59905e-28	71	341				
ZBED4	9889	broad.mit.edu	37	22	50277250	50277250	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50277250A>T	ENST00000216268.5	+	0	417					NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGGCACAAATGAGCACTTG	0.373																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44								zinc finger, BED-type containing 4																																						9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50277250A>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.-61A>T	22.37:g.50277250A>T								NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	0	417	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)						B2RZH1|Q1ECU0|Q9UGG8	Translation_Start_Site	SNP	ENST00000216268.5	37		CCDS33677.1																																																																																				0.373	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		25	109	0	0	0	1	0	25	109				
MFAP3L	9848	broad.mit.edu	37	4	170912876	170912876	+	Missense_Mutation	SNP	G	G	A	rs184358631		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170912876G>A	ENST00000361618.3	-	3	1190	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAGTCGCTCCGCTTCAGAGAG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16991	0.0		0.0	False		,,,				2504	0.0					ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(883-885)Cgg>Tgg		microfibrillar-associated protein 3-like							45.0	44.0	44.0					4																	170912876		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170912876G>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.883C>T	4.37:g.170912876G>A	ENSP00000354583:p.Arg295Trp					RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W	p.R295W	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	1190	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	295					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.883C>T	CCDS34103.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.62	2.291683	0.40594	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98968	-5.28;-2.39	5.41	4.53	0.55603	.	0.053234	0.85682	D	0.000000	D	0.98551	0.9516	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99323	1.0907	10	0.72032	D	0.01	-15.6816	13.0861	0.59142	0.0:0.0:0.6621:0.3379	.	295	O75121	MFA3L_HUMAN	W	192;295	ENSP00000377307:R192W;ENSP00000354583:R295W	ENSP00000354583:R295W	R	-	1	2	MFAP3L	171149451	1.000000	0.71417	0.990000	0.47175	0.022000	0.10575	3.062000	0.49971	1.154000	0.42482	0.650000	0.86243	CGG		0.582	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		68	278	0	0	0	1	0	68	278				
LRRC49	54839	broad.mit.edu	37	15	71276472	71276472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71276472T>C	ENST00000260382.5	+	11	1305	c.1045T>C	c.(1045-1047)Tgg>Cgg	p.W349R	LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	349						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGCTCGACAGTGGGACTTGCA	0.378																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1045-1047)Tgg>Cgg		leucine rich repeat containing 49							110.0	95.0	100.0					15																	71276472		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71276472T>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1045T>C	15.37:g.71276472T>C	ENSP00000260382:p.Trp349Arg					LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R|LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000436542.2_3'UTR	p.W349R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			11	1305	+			349					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1045T>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.218337	0.39201	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.22743	1.94;1.94;1.94	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.68952	2.095	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	T	0.28618	-1.0038	10	0.51188	T	0.08	-0.4011	11.7414	0.51794	0.0:0.0:0.0:1.0	.	354;321;305;349;339	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	339;349;305;321	ENSP00000439600:W339R;ENSP00000260382:W349R;ENSP00000414065:W305R	ENSP00000260382:W349R	W	+	1	0	LRRC49	69063526	0.998000	0.40836	1.000000	0.80357	0.143000	0.21401	4.186000	0.58337	1.939000	0.56221	0.383000	0.25322	TGG		0.378	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		47	185	0	0	0	1	0	47	185				
TCERG1	10915	broad.mit.edu	37	5	145838887	145838887	+	Silent	SNP	G	G	A	rs371433599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838887G>A	ENST00000296702.5	+	4	917	c.879G>A	c.(877-879)gcG>gcA	p.A293A	TCERG1_ENST00000394421.2_Silent_p.A293A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	293	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGTTGCGCAGACAGTAT	0.468																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(877-879)gcG>gcA		transcription elongation regulator 1							155.0	143.0	147.0					5																	145838887		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838887G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.879G>A	5.37:g.145838887G>A						TCERG1_ENST00000394421.2_Silent_p.A293A	p.A293A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	917	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	293			Thr-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.879G>A	CCDS4282.1																																																																																				0.468	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		124	528	0	0	0	1	0	124	528				
TNNC1	7134	broad.mit.edu	37	3	52485422	52485422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485422G>A	ENST00000232975.3	-	5	493	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	147	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)	p.R147C(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	TAGTCGATGCGGCCGTCGTTG	0.592																																						ENST00000232975.3																			1	Substitution - Missense(1)	p.R147C(1)	lung(1)	endometrium(1)|lung(3)|ovary(1)|skin(1)	6						c.(439-441)Cgc>Tgc		troponin C type 1 (slow)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						188.0	137.0	154.0					3																	52485422		2203	4300	6503	SO:0001583	missense	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485422G>A		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.439C>T	3.37:g.52485422G>A	ENSP00000232975:p.Arg147Cys						p.R147C	NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	5	493	-			147			EF-hand 4.		O14800|P02590|P04463	Missense_Mutation	SNP	ENST00000232975.3	37	c.439C>T	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071955	0.55646	.	.	ENSG00000114854	ENST00000232975	T	0.72505	-0.66	5.28	4.32	0.51571	EF-hand-like domain (1);	0.045312	0.85682	D	0.000000	T	0.64427	0.2597	L	0.60067	1.865	0.80722	D	1	P	0.47962	0.903	B	0.39771	0.309	T	0.70842	-0.4762	10	0.87932	D	0	.	10.6775	0.45794	0.0:0.0:0.5674:0.4326	.	147	P63316	TNNC1_HUMAN	C	147	ENSP00000232975:R147C	ENSP00000232975:R147C	R	-	1	0	TNNC1	52460462	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.222000	0.51223	2.471000	0.83476	0.561000	0.74099	CGC		0.592	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			45	226	0	0	0	1	0	45	226				
MID1	4281	broad.mit.edu	37	X	10427733	10427733	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10427733T>A	ENST00000317552.4	-	8	1800	c.1400A>T	c.(1399-1401)aAc>aTc	p.N467I	MID1_ENST00000453318.2_Missense_Mutation_p.N467I|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.N467I|MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000380782.2_Missense_Mutation_p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	467	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCGCCTGGTTGATGGCCTT	0.517																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1399-1401)aAc>aTc		midline 1 (Opitz/BBB syndrome)							207.0	153.0	172.0					X																	10427733		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10427733T>A	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1400A>T	X.37:g.10427733T>A	ENSP00000312678:p.Asn467Ile					MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000453318.2_Missense_Mutation_p.N467I|MID1_ENST00000380782.2_Missense_Mutation_p.N467I|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380785.1_Missense_Mutation_p.N467I	p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			8	1800	-			467			Fibronectin type-III.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1400A>T	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641151	0.87859	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.34	5.34	0.76211	Fibronectin, type III (4);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73953	-0.3820	10	0.72032	D	0.01	.	14.4277	0.67227	0.0:0.0:0.0:1.0	.	467;467;417	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	I	467;467;467;467;467;467;467;417;467	ENSP00000414521:N467I;ENSP00000312678:N467I;ENSP00000370162:N467I;ENSP00000370156:N467I;ENSP00000370164:N467I;ENSP00000370157:N467I;ENSP00000370159:N467I;ENSP00000391154:N467I	ENSP00000312678:N467I	N	-	2	0	MID1	10387733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	1.787000	0.52448	0.481000	0.45027	AAC		0.517	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			193	663	0	0	0	1	0	193	663				
ZNF473	25888	broad.mit.edu	37	19	50548627	50548627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548627G>A	ENST00000595661.1	+	6	1422	c.927G>A	c.(925-927)gaG>gaA	p.E309E	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.E309E|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.E297E|ZNF473_ENST00000270617.3_Silent_p.E309E			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	309			E -> G (in dbSNP:rs16981706).		gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGCCTGGTGAGCATCAGAAAA	0.473																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(925-927)gaG>gaA		zinc finger protein 473							95.0	95.0	95.0					19																	50548627		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548627G>A	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.927G>A	19.37:g.50548627G>A						CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.E297E|ZNF473_ENST00000270617.3_Silent_p.E309E|ZNF473_ENST00000391821.2_Silent_p.E309E	p.E309E			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1422	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	309		E -> G (in dbSNP:rs16981706).			A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.927G>A	CCDS33077.1																																																																																				0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		105	467	0	0	0	1	0	105	467				
CCDC25	55246	broad.mit.edu	37	8	27605688	27605688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605688G>A	ENST00000356537.4	-	7	550	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C|CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	153						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTCTCTTCACGATCTCTGCAT	0.403																																						ENST00000356537.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(457-459)Cgt>Tgt		coiled-coil domain containing 25							128.0	124.0	126.0					8																	27605688		2203	4300	6503	SO:0001583	missense	55246							g.chr8:27605688G>A	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.457C>T	8.37:g.27605688G>A	ENSP00000348933:p.Arg153Cys					CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C	p.R153C	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	7	550	-		Ovarian(32;0.000953)	153					Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	c.457C>T	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481698	0.44147	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.37	5.37	0.77165	.	0.205907	0.40469	N	0.001099	T	0.59514	0.2199	L	0.52823	1.66	0.53688	D	0.999978	B	0.14012	0.009	B	0.06405	0.002	T	0.56655	-0.7943	9	0.48119	T	0.1	-0.3323	16.5983	0.84802	0.0:0.0:1.0:0.0	.	153	Q86WR0	CCD25_HUMAN	C	153;85;85	.	ENSP00000348933:R153C	R	-	1	0	CCDC25	27661607	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	3.308000	0.51896	2.523000	0.85059	0.655000	0.94253	CGT		0.403	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		80	430	0	0	0	1	0	80	430				
CUL4B	8450	broad.mit.edu	37	X	119668405	119668405	+	Silent	SNP	G	G	A	rs202209674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668405G>A	ENST00000404115.3	-	19	2652	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	CUL4B_ENST00000371322.5_Silent_p.L733L|CUL4B_ENST00000336592.6_Silent_p.L738L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	751					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCAGCACCAGTGTTTGAAAA	0.343																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2197-2199)Ctg>Ttg		cullin 4B							157.0	148.0	151.0					X																	119668405		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119668405G>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2251C>T	X.37:g.119668405G>A						CUL4B_ENST00000404115.3_Silent_p.L751L|CUL4B_ENST00000336592.6_Silent_p.L738L	p.L733L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			17	2258	-			751					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.2197C>T	CCDS35379.1																																																																																				0.343	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		23	671	0	0	0	1	0	23	671				
TRPC6	7225	broad.mit.edu	37	11	101342956	101342956	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342956A>G	ENST00000344327.3	-	8	2541	c.2117T>C	c.(2116-2118)gTt>gCt	p.V706A	TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A|TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A|TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	706					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCATAAAGAACGTAACCAAT	0.338																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2116-2118)gTt>gCt		transient receptor potential cation channel, subfamily C, member 6							88.0	89.0	88.0					11																	101342956		2203	4298	6501	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101342956A>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2117T>C	11.37:g.101342956A>G	ENSP00000340913:p.Val706Ala					TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A|TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A|TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A	p.V706A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	8	2541	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	706					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2117T>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518349	0.44763	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.81	5.81	0.92471	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.47190	1.495	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.956	D;D;D	0.87578	0.998;0.995;0.927	D	0.99215	1.0877	10	0.33141	T	0.24	-6.7012	16.1667	0.81768	1.0:0.0:0.0:0.0	.	651;590;706	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	A	706;628;590;651	ENSP00000340913:V706A;ENSP00000435574:V628A;ENSP00000343672:V590A;ENSP00000353687:V651A	ENSP00000340913:V706A	V	-	2	0	TRPC6	100848166	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.531000	0.81973	2.210000	0.71456	0.533000	0.62120	GTT		0.338	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		58	313	0	0	0	1	0	58	313				
FAT4	79633	broad.mit.edu	37	4	126371043	126371043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371043C>T	ENST00000394329.3	+	9	8885	c.8872C>T	c.(8872-8874)Cga>Tga	p.R2958*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2958	Cadherin 28. {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						ATCTTCAGATCGAGGTAAACC	0.333																																						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.(8872-8874)Cga>Tga		FAT atypical cadherin 4							69.0	70.0	70.0					4																	126371043		2203	4299	6502	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371043C>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.8872C>T	4.37:g.126371043C>T	ENSP00000377862:p.Arg2958*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	p.R2958*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	8885	+			2958			Cadherin 28.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.8872C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	50	16.322416	0.99860	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.34	4.49	0.54785	.	0.000000	0.30311	U	0.009916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.4453	0.61138	0.2856:0.7144:0.0:0.0	.	.	.	.	X	2958;1256	.	ENSP00000335169:R1256X	R	+	1	2	FAT4	126590493	0.993000	0.37304	0.947000	0.38551	0.929000	0.56500	0.941000	0.29005	1.377000	0.46286	0.655000	0.94253	CGA		0.333	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		56	286	0	0	0	1	0	56	286				
ETFDH	2110	broad.mit.edu	37	4	159606330	159606330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159606330G>A	ENST00000511912.1	+	5	897	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	ETFDH_ENST00000307738.5_Missense_Mutation_p.A142T	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	189					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAAGCAGAAGCCCTTGGTGT	0.358																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(565-567)Gcc>Acc		electron-transferring-flavoprotein dehydrogenase							129.0	131.0	130.0					4																	159606330		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159606330G>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.565G>A	4.37:g.159606330G>A	ENSP00000426638:p.Ala189Thr					ETFDH_ENST00000307738.5_Missense_Mutation_p.A142T	p.A189T	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	5	897	+	all_hematologic(180;0.24)	Renal(120;0.0458)	189					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.565G>A	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009916	0.54361	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.95821	-3.77;-3.82;-3.77	5.73	2.97	0.34412	.	0.219823	0.47093	D	0.000260	D	0.93598	0.7956	M	0.77616	2.38	0.39314	D	0.96512	B;B;B	0.23591	0.031;0.012;0.088	B;B;B	0.25405	0.02;0.015;0.06	D	0.90089	0.4176	10	0.39692	T	0.17	-9.9469	7.7272	0.28767	0.0652:0.1201:0.6898:0.1248	.	142;128;189	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	T	189;24;142	ENSP00000426638:A189T;ENSP00000422735:A24T;ENSP00000303552:A142T	ENSP00000303552:A142T	A	+	1	0	ETFDH	159825780	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.621000	0.67743	0.772000	0.33382	0.563000	0.77884	GCC		0.358	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			106	522	0	0	0	1	0	106	522				
VSTM4	196740	broad.mit.edu	37	10	50256539	50256539	+	Silent	SNP	G	G	A	rs17854125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50256539G>A	ENST00000332853.4	-	6	782	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P253P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CAGGGACTGCGGGAGGAATGT	0.532													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0					ENST00000332853.3																			1	Substitution - coding silent(1)	p.P253P(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(757-759)ccC>ccT		V-set and transmembrane domain containing 4		A		2,4404	826.0+/-416.6	0,2,2201	106.0	93.0	97.0		759	-0.3	0.9	10	dbSNP_123	97	0,8600		0,0,4300	no	coding-synonymous	VSTM4	NM_001031746.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		253/321	50256539	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50256539G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.759C>T	10.37:g.50256539G>A							p.P253P	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			6	782	-			253					B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.759C>T	CCDS31198.1																																																																																				0.532	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		52	297	0	0	0	1	0	52	297				
WDR72	256764	broad.mit.edu	37	15	53908400	53908400	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53908400A>G	ENST00000396328.1	-	15	2242	c.2003T>C	c.(2002-2004)tTg>tCg	p.L668S	WDR72_ENST00000360509.5_Missense_Mutation_p.L668S|WDR72_ENST00000557913.1_Missense_Mutation_p.L665S|WDR72_ENST00000559418.1_Missense_Mutation_p.L678S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	668										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCACAGGCAAGACATTAAA	0.343																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2002-2004)tTg>tCg		WD repeat domain 72							59.0	57.0	57.0					15																	53908400		2193	4292	6485	SO:0001583	missense	256764							g.chr15:53908400A>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2003T>C	15.37:g.53908400A>G	ENSP00000379619:p.Leu668Ser					WDR72_ENST00000360509.5_Missense_Mutation_p.L668S|WDR72_ENST00000559418.1_Missense_Mutation_p.L678S|WDR72_ENST00000557913.1_Missense_Mutation_p.L665S	p.L668S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2242	-			668					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2003T>C	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598868	0.46318	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.39229	1.09;1.09	5.23	5.23	0.72850	.	0.221234	0.31519	N	0.007503	T	0.42314	0.1197	L	0.32530	0.975	0.35638	D	0.810786	P	0.46706	0.883	P	0.49752	0.621	T	0.51379	-0.8713	10	0.33141	T	0.24	.	14.2825	0.66221	1.0:0.0:0.0:0.0	.	668	Q3MJ13	WDR72_HUMAN	S	668	ENSP00000379619:L668S;ENSP00000353699:L668S	ENSP00000353699:L668S	L	-	2	0	WDR72	51695692	0.969000	0.33509	0.979000	0.43373	0.571000	0.35966	2.695000	0.47043	1.972000	0.57404	0.260000	0.18958	TTG		0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		40	207	0	0	0	1	0	40	207				
LRRC8D	55144	broad.mit.edu	37	1	90400677	90400677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90400677C>T	ENST00000337338.5	+	3	2457	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	684					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R684*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCATTTAAAACGACTGACTTG	0.343																																						ENST00000337338.5																			1	Substitution - Nonsense(1)	p.R684*(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(2050-2052)Cga>Tga		leucine rich repeat containing 8 family, member D							63.0	67.0	66.0					1																	90400677		2203	4299	6502	SO:0001587	stop_gained	55144					integral to membrane	protein binding	g.chr1:90400677C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2050C>T	1.37:g.90400677C>T	ENSP00000338887:p.Arg684*					LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	p.R684*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2457	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	684					D3DT29|Q6UWB2|Q9NVW3	Nonsense_Mutation	SNP	ENST00000337338.5	37	c.2050C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	39	7.678981	0.98428	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	.	.	.	6.07	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4984	0.61438	0.4943:0.5057:0.0:0.0	.	.	.	.	X	684	.	.	R	+	1	2	LRRC8D	90173265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	0.784000	0.33661	0.655000	0.94253	CGA		0.343	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		27	328	0	0	0	1	0	27	328				
LRP1B	53353	broad.mit.edu	37	2	140990894	140990894	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:140990894G>A	ENST00000389484.3	-	91	14632	c.13661C>T	c.(13660-13662)cCa>cTa	p.P4554L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4554					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAATTTGTTGGCTGAAGGAG	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e91-1		low density lipoprotein receptor-related protein 1B							57.0	55.0	56.0					2																	140990894		2201	4293	6494	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990894G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13660-1C>T	2.37:g.140990894G>A		TSP Lung(27;0.18)					p.P4554_splice	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14632	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4554					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.13659_splice	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.080957|4.080957	0.76528|0.76528	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.49720|.	0.77|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|.	0.71117|.	0.3302|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P|.	0.45986|.	0.87|.	B|.	0.41571|.	0.36|.	T|.	0.66396|.	-0.5934|.	10|.	0.87932|.	D|.	0|.	.|.	19.8102|19.8102	0.96543|0.96543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4554|.	Q9NZR2|.	LRP1B_HUMAN|.	L|X	4554;4492|753	ENSP00000374135:P4554L|.	ENSP00000374135:P4554L|.	P|Q	-|-	2|1	0|0	LRP1B|LRP1B	140707364|140707364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	6.398000|6.398000	0.73244|0.73244	2.682000|2.682000	0.91365|0.91365	0.585000|0.585000	0.79938|0.79938	CCA|CAA		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	19	194	0	0	0	1	0	19	194				
GBA3	57733	broad.mit.edu	37	4	22737808	22737808	+	RNA	SNP	C	C	T	rs529839966		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22737808C>T	ENST00000503442.1	+	0	354				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.T88K(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTGATGGGACGACAGGTTTC	0.413																																						ENST00000511446.1																			1	Substitution - Missense(1)	p.T88K(1)	lung(1)	breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							132.0	131.0	131.0					4																	22737808		1880	4112	5992			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737808C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737808C>T						GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	266	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			126	534	0	0	0	1	0	126	534				
PCDHGB3	56102	broad.mit.edu	37	5	140751489	140751489	+	Missense_Mutation	SNP	C	C	T	rs200368368		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140751489C>T	ENST00000576222.1	+	1	1659	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCGCGCGGAGCGGGGT	0.667																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1528-1530)Cgg>Tgg				C	,,,,,,,TRP/ARG,TRP/ARG	0,4154		0,0,2077	49.0	53.0	52.0		,,,,,,,1528,1528	2.9	0.1	5		52	2,8448		0,2,4223	no	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,101,101	0,2,6300	TT,TC,CC		0.0237,0.0,0.0159	,,,,,,,,	,,,,,,,510/930,510/815	140751489	2,12602	2077	4225	6302	SO:0001583	missense	0							g.chr5:140751489C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1528C>T	5.37:g.140751489C>T	ENSP00000461862:p.Arg510Trp					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R510W	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1659	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1528C>T	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		92	396	0	0	0	1	0	92	396				
PBX3	5090	broad.mit.edu	37	9	128723010	128723010	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128723010T>A	ENST00000373489.5	+	6	907	c.891T>A	c.(889-891)atT>atA	p.I297I	PBX3_ENST00000373487.4_Silent_p.I318I|PBX3_ENST00000447726.2_Silent_p.I222I|PBX3_ENST00000342287.5_Silent_p.I297I|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000538998.1_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	297					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAGAACATTGGCAAGTTTC	0.483																																						ENST00000373487.4																			0				biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						c.(952-954)atT>atA		pre-B-cell leukemia homeobox 3							71.0	65.0	67.0					9																	128723010		2203	4300	6503	SO:0001819	synonymous_variant	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128723010T>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.891T>A	9.37:g.128723010T>A						PBX3_ENST00000373489.5_Silent_p.I297I|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000447726.2_Silent_p.I222I|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Silent_p.I297I	p.I318I			P40426	PBX3_HUMAN			7	1034	+			297					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	37	c.954T>A	CCDS6865.1																																																																																				0.483	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			53	167	0	0	0	1	0	53	167				
DNMBP	23268	broad.mit.edu	37	10	101654741	101654741	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101654741A>G	ENST00000324109.4	-	11	3209	c.3118T>C	c.(3118-3120)Ttt>Ctt	p.F1040L	DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000342239.3_Missense_Mutation_p.F1064L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1040	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTCGGATAAAAGACTTAATC	0.368																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3190-3192)Ttt>Ctt		dynamin binding protein							155.0	133.0	140.0					10																	101654741		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101654741A>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3118T>C	10.37:g.101654741A>G	ENSP00000315659:p.Phe1040Leu					DNMBP_ENST00000324109.4_Missense_Mutation_p.F1040L|DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000540316.1_5'UTR	p.F1064L			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	11	3281	-		Colorectal(252;0.234)	1040			BAR.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.3190T>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785164	0.70222	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.42513	0.97;0.97;0.97	5.77	5.77	0.91146	BAR (3);	0.000000	0.50627	D	0.000104	T	0.48677	0.1513	N	0.17082	0.46	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.999	D;P;D	0.87578	0.998;0.849;0.998	T	0.48163	-0.9059	10	0.33141	T	0.24	-20.926	15.7668	0.78131	1.0:0.0:0.0:0.0	.	1040;286;1064	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	1064;1040;286;286	ENSP00000344914:F1064L;ENSP00000315659:F1040L;ENSP00000443657:F286L	ENSP00000315659:F1040L	F	-	1	0	DNMBP	101644731	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.184000	0.94893	2.201000	0.70794	0.528000	0.53228	TTT		0.368	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		27	149	0	0	0	1	0	27	149				
OTUD7B	56957	broad.mit.edu	37	1	149916165	149916165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149916165C>T	ENST00000369135.4	-	12	2417	c.2123G>A	c.(2122-2124)tGc>tAc	p.C708Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	708					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTTCCTGGCAGTGGACTCC	0.662																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2122-2124)tGc>tAc		OTU domain containing 7B							32.0	36.0	35.0					1																	149916165		1907	4103	6010	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916165C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2123G>A	1.37:g.149916165C>T	ENSP00000358131:p.Cys708Tyr						p.C708Y	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2417	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		708					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.2123G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.486588	0.01018	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.28069	1.63	4.35	2.4	0.29515	.	0.653611	0.16589	N	0.207856	T	0.03011	0.0089	N	0.03608	-0.345	0.29048	N	0.884704	B	0.02656	0.0	B	0.01281	0.0	T	0.43310	-0.9399	9	.	.	.	-4.9849	3.2711	0.06882	0.1875:0.5359:0.0:0.2766	.	708	Q6GQQ9	OTU7B_HUMAN	Y	708	ENSP00000358131:C708Y	.	C	-	2	0	OTUD7B	148182789	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	1.522000	0.35921	0.438000	0.26450	0.450000	0.29827	TGC		0.662	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		94	303	0	0	0	1	0	94	303				
KNDC1	85442	broad.mit.edu	37	10	134999981	134999981	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134999981C>A	ENST00000304613.3	+	6	1150	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T|KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	377					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGACGGGTTCCCTGTGCAGG	0.672																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1129-1131)Ccc>Acc		kinase non-catalytic C-lobe domain (KIND) containing 1							15.0	18.0	17.0					10																	134999981		2194	4294	6488	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134999981C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1129C>A	10.37:g.134999981C>A	ENSP00000304437:p.Pro377Thr					KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T|KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T	p.P377T			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	6	1150	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	377					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1129C>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	4.390	0.071987	0.08436	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17691	2.75;2.75;2.26	3.66	1.72	0.24424	.	1.960230	0.03115	U	0.163004	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	B;B	0.27732	0.187;0.001	B;B	0.24701	0.055;0.001	T	0.27502	-1.0072	10	0.52906	T	0.07	.	5.4819	0.16729	0.0:0.654:0.2237:0.1223	.	312;377	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	T	377;377;312	ENSP00000304437:P377T;ENSP00000357561:P377T;ENSP00000357560:P312T	ENSP00000304437:P377T	P	+	1	0	KNDC1	134849971	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.315000	0.19451	0.312000	0.23038	0.538000	0.68166	CCC		0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		40	147	1	0	1.03484e-13	1	1.11885e-13	40	147				
CLTC	1213	broad.mit.edu	37	17	57741290	57741290	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57741290A>G	ENST00000269122.3	+	9	1730	c.1456A>G	c.(1456-1458)Aat>Gat	p.N486D	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.N486D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	486	Flexible linker.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAACGTCCCAAATAAAGTCAT	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(1456-1458)Aat>Gat		clathrin, heavy chain (Hc)							138.0	131.0	133.0					17																	57741290		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57741290A>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1456A>G	17.37:g.57741290A>G	ENSP00000269122:p.Asn486Asp					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.N486D	p.N486D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			9	1730	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		486			Flexible linker.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1456A>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025966	0.54683	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21191	2.02;2.02	5.38	5.38	0.77491	Armadillo-type fold (2);	0.043136	0.85682	D	0.000000	T	0.18383	0.0441	L	0.41027	1.25	0.80722	D	1	B;B	0.20550	0.046;0.0	B;B	0.20384	0.029;0.006	T	0.05616	-1.0874	10	0.11794	T	0.64	.	15.6795	0.77357	1.0:0.0:0.0:0.0	.	486;486	Q00610;Q00610-2	CLH1_HUMAN;.	D	486	ENSP00000269122:N486D;ENSP00000376763:N486D	ENSP00000269122:N486D	N	+	1	0	CLTC	55096072	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.161000	0.67846	0.460000	0.39030	AAT		0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		85	351	0	0	0	1	0	85	351				
AP4E1	23431	broad.mit.edu	37	15	51293263	51293263	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293263T>C	ENST00000261842.5	+	20	3242	c.3136T>C	c.(3136-3138)Tta>Cta	p.L1046L	AP4E1_ENST00000560508.1_Silent_p.L971L|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1046					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAAACTCTGGTTATCCTTCGC	0.328																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(3136-3138)Tta>Cta		adaptor-related protein complex 4, epsilon 1 subunit							99.0	102.0	101.0					15																	51293263		2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51293263T>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3136T>C	15.37:g.51293263T>C						AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.L971L	p.L1046L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	20	3242	+			1046					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.3136T>C	CCDS32240.1																																																																																				0.328	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			13	382	0	0	0	1	0	13	382				
SNAP29	9342	broad.mit.edu	37	22	21224631	21224631	+	Missense_Mutation	SNP	G	G	A	rs146502130	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224631G>A	ENST00000215730.7	+	2	372	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	82					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CCAGGAGCTCGCCCGTCAGCG	0.532																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(244-246)Gcc>Acc		synaptosomal-associated protein, 29kDa		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81.0	74.0	77.0		244	3.4	0.3	22	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNAP29	NM_004782.3	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	82/259	21224631	2,13004	2203	4300	6503	SO:0001583	missense	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21224631G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.244G>A	22.37:g.21224631G>A	ENSP00000215730:p.Ala82Thr						p.A82T	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		2	372	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	82						Missense_Mutation	SNP	ENST00000215730.7	37	c.244G>A	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651895	0.29336	2.27E-4	1.16E-4	ENSG00000099940	ENST00000215730	T	0.76839	-1.05	5.58	3.37	0.38596	Target SNARE coiled-coil domain (1);	0.328618	0.32120	N	0.006545	T	0.60625	0.2283	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.41016	-0.9532	10	0.18276	T	0.48	-14.9797	7.7116	0.28682	0.191:0.1277:0.6814:0.0	.	82	O95721	SNP29_HUMAN	T	82	ENSP00000215730:A82T	ENSP00000215730:A82T	A	+	1	0	SNAP29	19554631	0.017000	0.18338	0.282000	0.24776	0.226000	0.24999	0.542000	0.23222	1.357000	0.45904	0.591000	0.81541	GCC		0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		69	305	0	0	0	1	0	69	305				
IAH1	285148	broad.mit.edu	37	2	9621566	9621566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9621566C>T	ENST00000497473.1	+	4	472	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000470914.1_Silent_p.C32C|IAH1_ENST00000482918.1_Silent_p.C32C	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	145					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGAACAGTGCATCATACAAG	0.512																																						ENST00000470914.1																			0				breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(94-96)tgC>tgT		isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)							49.0	49.0	49.0					2																	9621566		1986	4174	6160	SO:0001819	synonymous_variant	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9621566C>T	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.435C>T	2.37:g.9621566C>T						IAH1_ENST00000497473.1_Silent_p.C145C|IAH1_ENST00000482918.1_Silent_p.C32C|IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000489468.1_3'UTR	p.C32C			Q2TAA2	IAH1_HUMAN			3	412	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		145					B4DMV3	Silent	SNP	ENST00000497473.1	37	c.96C>T	CCDS42651.1	.	.	.	.	.	.	.	.	.	.	C	5.483	0.274065	0.10403	.	.	ENSG00000134330	ENST00000481367	.	.	.	5.38	2.56	0.30785	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54761	-0.8245	4	.	.	.	-28.454	10.0625	0.42284	0.0:0.657:0.0:0.343	.	.	.	.	V	125	.	.	A	+	2	0	IAH1	9539017	0.047000	0.20315	0.040000	0.18447	0.035000	0.12851	0.441000	0.21611	0.753000	0.32945	0.563000	0.77884	GCA		0.512	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613		30	159	0	0	0	1	0	30	159				
RERE	473	broad.mit.edu	37	1	8424198	8424198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8424198G>A	ENST00000337907.3	-	16	2292	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	RERE_ENST00000377464.1_Missense_Mutation_p.P285L|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000400908.2_Missense_Mutation_p.P553L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	553					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAACATAAACGGTGGCGGGTC	0.602																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1657-1659)cCg>cTg		arginine-glutamic acid dipeptide (RE) repeats							87.0	82.0	83.0					1																	8424198		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8424198G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1658C>T	1.37:g.8424198G>A	ENSP00000338629:p.Pro553Leu					RERE_ENST00000377464.1_Missense_Mutation_p.P285L|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400908.2_Missense_Mutation_p.P553L|RERE_ENST00000400907.2_Intron	p.P553L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	16	2292	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	553					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.1658C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444138	0.83993	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400908	T;T;T	0.50548	0.76;0.74;0.76	5.2	5.2	0.72013	.	.	.	.	.	T	0.63022	0.2476	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.64495	-0.6394	9	0.72032	D	0.01	-20.5155	17.9071	0.88921	0.0:0.0:1.0:0.0	.	285;553	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	553;285;553	ENSP00000338629:P553L;ENSP00000366684:P285L;ENSP00000383700:P553L	ENSP00000338629:P553L	P	-	2	0	RERE	8346785	1.000000	0.71417	0.967000	0.41034	0.226000	0.24999	9.212000	0.95126	2.711000	0.92665	0.561000	0.74099	CCG		0.602	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			26	417	0	0	0	1	0	26	417				
TMPRSS7	344805	broad.mit.edu	37	3	111782371	111782371	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111782371G>T	ENST00000452346.2	+	12	1450		c.e12-1		TMPRSS7_ENST00000419127.1_Splice_Site			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7						proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTGCCCATAGCCTGCCCTGT	0.413																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e12-1		transmembrane protease, serine 7							217.0	199.0	205.0					3																	111782371		1898	4117	6015	SO:0001630	splice_region_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111782371G>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1448-1G>T	3.37:g.111782371G>T						TMPRSS7_ENST00000419127.1_Splice_Site				Q7RTY8	TMPS7_HUMAN			12	1450	+								C9J8P7|E9PAS3|Q17RH4	Splice_Site	SNP	ENST00000452346.2	37			.	.	.	.	.	.	.	.	.	.	G	16.11	3.030445	0.54790	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6344	0.85042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMPRSS7	113265061	1.000000	0.71417	0.995000	0.50966	0.611000	0.37282	6.145000	0.71769	2.670000	0.90874	0.563000	0.77884	.		0.413	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	Intron	160	675	1	0	1.00085e-62	1	1.26187e-62	160	675				
SENP6	26054	broad.mit.edu	37	6	76412670	76412670	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76412670T>G	ENST00000447266.2	+	19	3076	c.2598T>G	c.(2596-2598)caT>caG	p.H866Q	SENP6_ENST00000370014.3_Missense_Mutation_p.H866Q|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q|SENP6_ENST00000541192.1_Intron	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	866	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAATAAATCATACTGCGAGTG	0.358																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2596-2598)caT>caG		SUMO1/sentrin specific peptidase 6							124.0	123.0	124.0					6																	76412670		1834	4093	5927	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412670T>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2598T>G	6.37:g.76412670T>G	ENSP00000402527:p.His866Gln					SENP6_ENST00000447266.2_Missense_Mutation_p.H866Q|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q	p.H866Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			19	3217	+		all_hematologic(105;0.189)	866			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.2598T>G	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026728	0.07589	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.10763	2.84;2.84;2.84	5.85	0.5	0.16919	.	0.313789	0.35179	N	0.003387	T	0.01189	0.0039	N	0.11560	0.145	0.31730	N	0.637123	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.47420	-0.9119	10	0.27082	T	0.32	-7.1186	1.7865	0.03043	0.1332:0.1508:0.3504:0.3656	.	859;866	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	859;866;866	ENSP00000359027:H859Q;ENSP00000359031:H866Q;ENSP00000402527:H866Q	ENSP00000359027:H859Q	H	+	3	2	SENP6	76469390	0.998000	0.40836	0.976000	0.42696	0.868000	0.49771	0.292000	0.19011	0.142000	0.18901	-0.361000	0.07541	CAT		0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		139	571	0	0	0	1	0	139	571				
KLHL11	55175	broad.mit.edu	37	17	40011445	40011445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40011445G>A	ENST00000319121.3	-	2	734	c.674C>T	c.(673-675)gCt>gTt	p.A225V		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	225	BACK.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TATCATATCAGCAGCCTTCAG	0.383																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(673-675)gCt>gTt		kelch-like family member 11							82.0	82.0	82.0					17																	40011445		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40011445G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.674C>T	17.37:g.40011445G>A	ENSP00000314608:p.Ala225Val						p.A225V	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	734	-		Breast(137;0.00156)	225			BACK.			Missense_Mutation	SNP	ENST00000319121.3	37	c.674C>T	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768529	0.31320	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.68903	-0.36	4.84	4.84	0.62591	BTB/Kelch-associated (2);	0.124523	0.53938	D	0.000058	T	0.51753	0.1693	N	0.25647	0.755	0.80722	D	1	B	0.26363	0.147	B	0.13407	0.009	T	0.50101	-0.8867	10	0.33141	T	0.24	5.868	13.8592	0.63550	0.0:0.0:0.8372:0.1628	.	225	Q9NVR0	KLH11_HUMAN	V	225;88	ENSP00000314608:A225V	ENSP00000314608:A225V	A	-	2	0	KLHL11	37264971	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	9.318000	0.96334	2.225000	0.72522	0.591000	0.81541	GCT		0.383	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		13	504	0	0	0	1	0	13	504				
LRRC14B	389257	broad.mit.edu	37	5	194943	194943	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:194943A>G	ENST00000328278.3	+	2	1048	c.1020A>G	c.(1018-1020)ggA>ggG	p.G340G	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	340										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ACCTCAGTGGACACAACCTGG	0.617																																						ENST00000328278.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						c.(1018-1020)ggA>ggG		leucine rich repeat containing 14B							33.0	37.0	36.0					5																	194943		2133	4246	6379	SO:0001819	synonymous_variant	389257							g.chr5:194943A>G		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1020A>G	5.37:g.194943A>G							p.G340G	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN			2	1048	+			340						Silent	SNP	ENST00000328278.3	37	c.1020A>G	CCDS47184.1																																																																																				0.617	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		13	67	0	0	0	1	0	13	67				
DAW1	164781	broad.mit.edu	37	2	228750117	228750117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228750117G>T	ENST00000309931.2	+	2	174	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	DAW1_ENST00000545118.1_Missense_Mutation_p.D16Y|DAW1_ENST00000373666.2_Missense_Mutation_p.D31Y|SNORA25_ENST00000607153.1_RNA	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	31						cilium (GO:0005929)											TAAGTCCATAGATTTGCTTGA	0.358																																						ENST00000373666.2																			0											c.(91-93)Gat>Tat		dynein assembly factor with WDR repeat domains 1							110.0	113.0	112.0					2																	228750117		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228750117G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.91G>T	2.37:g.228750117G>T	ENSP00000311899:p.Asp31Tyr					DAW1_ENST00000545118.1_Missense_Mutation_p.D16Y|DAW1_ENST00000309931.2_Missense_Mutation_p.D31Y	p.D31Y							2	727	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.91G>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834469	0.71373	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.72051	0.47;0.38;-0.62;0.35	5.52	5.52	0.82312	.	0.054817	0.64402	D	0.000001	D	0.86205	0.5877	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88385	0.3004	10	0.87932	D	0	.	16.9351	0.86201	0.0:0.0:1.0:0.0	.	31	Q8N136	WDR69_HUMAN	Y	31;31;16;16	ENSP00000362770:D31Y;ENSP00000311899:D31Y;ENSP00000394853:D16Y;ENSP00000437887:D16Y	ENSP00000311899:D31Y	D	+	1	0	WDR69	228458361	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	8.283000	0.89909	2.577000	0.86979	0.655000	0.94253	GAT		0.358	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		50	292	1	0	9.57592e-29	1	1.11608e-28	50	292				
HCRTR1	3061	broad.mit.edu	37	1	32084938	32084938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32084938C>A	ENST00000373706.5	+	1	298	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I|HCRTR1_ENST00000403528.2_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	49					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGAGTGGGTCCTCATCGCAGC	0.597																																						ENST00000403528.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(145-147)Ctc>Atc		hypocretin (orexin) receptor 1							144.0	145.0	144.0					1																	32084938		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32084938C>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.145C>A	1.37:g.32084938C>A	ENSP00000362810:p.Leu49Ile					HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373706.5_Missense_Mutation_p.L49I	p.L49I	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	3	530	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	49					A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.145C>A	CCDS344.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248482	0.80024	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.43294	0.95;0.95;0.95	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000004	T	0.51058	0.1652	L	0.47190	1.495	0.43863	D	0.996469	D;P	0.61697	0.99;0.941	P;P	0.58013	0.831;0.693	T	0.50898	-0.8773	10	0.44086	T	0.13	.	14.47	0.67509	0.0:1.0:0.0:0.0	.	49;49	A6NMV7;O43613	.;OX1R_HUMAN	I	49	ENSP00000384387:L49I;ENSP00000362810:L49I;ENSP00000362809:L49I	ENSP00000362809:L49I	L	+	1	0	HCRTR1	31857525	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.548000	0.53670	2.160000	0.67779	0.591000	0.81541	CTC		0.597	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		81	758	1	0	7.29696e-51	1	9.04737e-51	81	758				
SLC25A31	83447	broad.mit.edu	37	4	128688339	128688339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128688339C>T	ENST00000281154.4	+	4	765	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	199					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCATTGTGTACCGAGCCTCTT	0.358																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(595-597)taC>taT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							186.0	182.0	184.0					4																	128688339		2203	4300	6503	SO:0001819	synonymous_variant	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128688339C>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.597C>T	4.37:g.128688339C>T							p.Y199Y	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			4	765	+			199						Silent	SNP	ENST00000281154.4	37	c.597C>T	CCDS3733.1																																																																																				0.358	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		132	703	0	0	0	1	0	132	703				
MICALL1	85377	broad.mit.edu	37	22	38308394	38308394	+	Missense_Mutation	SNP	G	G	A	rs114708609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308394G>A	ENST00000215957.6	+	3	358	c.232G>A	c.(232-234)Gct>Act	p.A78T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	78	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.A78T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGGGATCCCCGCTCTCCTGGA	0.592													G|||	6	0.00119808	0.0038	0.0	5008	,	,		17461	0.001		0.0	False		,,,				2504	0.0					ENST00000215957.6																			1	Substitution - Missense(1)	p.A78T(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(232-234)Gct>Act		MICAL-like 1		G	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	80.0	71.0	74.0		232	4.7	1.0	22	dbSNP_132	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MICALL1	NM_033386.3	58	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging	78/864	38308394	7,12999	2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38308394G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.232G>A	22.37:g.38308394G>A	ENSP00000215957:p.Ala78Thr						p.A78T	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			3	358	+	Melanoma(58;0.045)		78			CH.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.232G>A	CCDS13961.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.488600	0.96323	0.001362	1.16E-4	ENSG00000100139	ENST00000215957	D	0.94793	-3.52	4.69	4.69	0.59074	Calponin homology domain (5);	0.310182	0.22740	N	0.056202	D	0.96935	0.8999	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97262	0.9905	10	0.66056	D	0.02	.	18.2487	0.89996	0.0:0.0:1.0:0.0	.	78	Q8N3F8	MILK1_HUMAN	T	78	ENSP00000215957:A78T	ENSP00000215957:A78T	A	+	1	0	MICALL1	36638340	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.604000	0.82830	2.609000	0.88269	0.632000	0.83419	GCT		0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		65	318	0	0	0	1	0	65	318				
BAI3	577	broad.mit.edu	37	6	69653757	69653757	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69653757T>G	ENST00000370598.1	+	6	1887	c.1066T>G	c.(1066-1068)Tta>Gta	p.L356V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	356	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACCATGGAGTTTATGTTCATT	0.423																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1066-1068)Tta>Gta		brain-specific angiogenesis inhibitor 3							242.0	193.0	210.0					6																	69653757		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69653757T>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1066T>G	6.37:g.69653757T>G	ENSP00000359630:p.Leu356Val						p.L356V	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			6	1887	+		all_lung(197;0.212)	356			TSP type-1 2.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1066T>G	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762932	0.69763	.	.	ENSG00000135298	ENST00000370598	T	0.52754	0.65	5.16	1.52	0.23074	.	0.000000	0.64402	D	0.000004	T	0.23133	0.0559	N	0.04805	-0.155	0.80722	D	1	D	0.61697	0.99	P	0.60173	0.87	T	0.06789	-1.0807	10	0.31617	T	0.26	.	9.3381	0.38062	0.0:0.187:0.0:0.813	.	356	O60242	BAI3_HUMAN	V	356	ENSP00000359630:L356V	ENSP00000359630:L356V	L	+	1	2	BAI3	69710478	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	2.086000	0.41643	0.116000	0.18110	0.528000	0.53228	TTA		0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	640	0	0	0	1	0	12	640				
NIPSNAP3B	55335	broad.mit.edu	37	9	107528697	107528697	+	Missense_Mutation	SNP	C	C	T	rs565850921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107528697C>T	ENST00000374762.3	+	2	223	c.152C>T	c.(151-153)gCg>gTg	p.A51V	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	51										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AATATGAATGCGTTCATGGAA	0.388																																						ENST00000374762.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.(151-153)gCg>gTg		nipsnap homolog 3B (C. elegans)							134.0	135.0	135.0					9																	107528697		2203	4300	6503	SO:0001583	missense	55335							g.chr9:107528697C>T	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.152C>T	9.37:g.107528697C>T	ENSP00000363894:p.Ala51Val					NIPSNAP3B_ENST00000461177.1_Intron	p.A51V	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN			2	223	+			51					Q5VX30|Q9NUM2	Missense_Mutation	SNP	ENST00000374762.3	37	c.152C>T	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541424	0.27563	.	.	ENSG00000165028	ENST00000374762	T	0.49139	0.79	3.93	-0.174	0.13319	Dimeric alpha-beta barrel (1);	0.311612	0.33591	N	0.004758	T	0.35913	0.0948	L	0.46157	1.445	0.29368	N	0.864236	P	0.35348	0.496	B	0.31390	0.129	T	0.30909	-0.9962	10	0.56958	D	0.05	-6.9514	11.2204	0.48851	0.527:0.473:0.0:0.0	.	51	Q9BS92	NPS3B_HUMAN	V	51	ENSP00000363894:A51V	ENSP00000363894:A51V	A	+	2	0	NIPSNAP3B	106568518	1.000000	0.71417	0.836000	0.33094	0.307000	0.27823	2.743000	0.47442	-0.130000	0.11599	-0.271000	0.10264	GCG		0.388	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		94	494	0	0	0	1	0	94	494				
PPY2P	23614	broad.mit.edu	37	17	26574722	26574722	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26574722C>T	ENST00000579045.1	-	0	310				PPY2_ENST00000583761.1_RNA																							ACTCCACATTCCTGGCCACAC	0.612																																						ENST00000579045.1																			0																																																			0							g.chr17:26574722C>T																													17.37:g.26574722C>T						PPY2_ENST00000583761.1_RNA								0	310	-									RNA	SNP	ENST00000579045.1	37																																																																																						0.612	CTD-2008P7.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446190.1			4	21	0	0	0	1	0	4	21				
HTR5A	3361	broad.mit.edu	37	7	154863096	154863096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863096G>A	ENST00000287907.2	+	1	1063	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CGTCATGATCGCGCTCACCTG	0.627																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(487-489)Gcg>Acg		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							102.0	74.0	84.0					7																	154863096		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863096G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.487G>A	7.37:g.154863096G>A	ENSP00000287907:p.Ala163Thr					AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.A163T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1063	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	163					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.487G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	6.284	0.420448	0.11928	.	.	ENSG00000157219	ENST00000287907	T	0.39997	1.05	4.75	-3.65	0.04502	GPCR, rhodopsin-like superfamily (1);	1.020240	0.07783	N	0.953679	T	0.29061	0.0722	L	0.39245	1.2	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.30031	-0.9992	10	0.21540	T	0.41	.	7.9454	0.29982	0.2722:0.3975:0.3303:0.0	.	163	P47898	5HT5A_HUMAN	T	163	ENSP00000287907:A163T	ENSP00000287907:A163T	A	+	1	0	HTR5A	154494029	0.004000	0.15560	0.002000	0.10522	0.334000	0.28698	1.467000	0.35321	-0.612000	0.05701	-0.176000	0.13171	GCG		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		22	273	0	0	0	1	0	22	273				
ATP11AUN	400165	broad.mit.edu	37	13	113333706	113333706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113333706G>T	ENST00000356049.1	+	2	771	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN		5										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GAACTCACCAGAGGCGAGGCT	0.557																																						ENST00000356049.1																			0				breast(1)|lung(2)|ovary(1)|prostate(1)	5						c.(13-15)Gag>Tag		chromosome 13 open reading frame 35							59.0	54.0	56.0					13																	113333706		2203	4300	6503	SO:0001587	stop_gained	400165							g.chr13:113333706G>T																												ENST00000356049.1:c.13G>T	13.37:g.113333706G>T	ENSP00000348337:p.Glu5*						p.E5*	NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	all cancers(43;0.201)		2	771	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		5						Nonsense_Mutation	SNP	ENST00000356049.1	37	c.13G>T	CCDS9526.1	.	.	.	.	.	.	.	.	.	.	G	38	6.663447	0.97743	.	.	ENSG00000197595	ENST00000356049	.	.	.	1.82	0.911	0.19343	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0085	0.19559	0.0:0.3287:0.6713:0.0	.	.	.	.	X	5	.	ENSP00000348337:E5X	E	+	1	0	C13orf35	112381707	0.002000	0.14202	0.042000	0.18584	0.018000	0.09664	0.232000	0.17891	0.296000	0.22592	0.462000	0.41574	GAG		0.557	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2			32	154	1	0	1.26612e-14	1	1.37737e-14	32	154				
GPR123	84435	broad.mit.edu	37	10	134942239	134942239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942239C>T	ENST00000392607.3	+	7	1343	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	GPR123_ENST00000607359.1_Missense_Mutation_p.L1022F|GPR123_ENST00000392606.2_Missense_Mutation_p.L206F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	303					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACTCTTCGTGCTCATCCACCA	0.682																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3064-3066)Ctc>Ttc		G protein-coupled receptor 123							44.0	35.0	38.0					10																	134942239		2197	4287	6484	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942239C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.907C>T	10.37:g.134942239C>T	ENSP00000376384:p.Leu303Phe					GPR123_ENST00000392607.3_Missense_Mutation_p.L303F|GPR123_ENST00000392606.2_Missense_Mutation_p.L206F	p.L1022F			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3064	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	303					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.3064C>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.401612	0.62288	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.38722	1.12	4.91	3.98	0.46160	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.45606	D	0.000345	T	0.48840	0.1522	M	0.69823	2.125	0.58432	D	0.999995	B;B	0.27791	0.09;0.189	B;P	0.45794	0.084;0.493	T	0.38067	-0.9678	10	0.12766	T	0.61	-43.9164	6.9616	0.24599	0.0:0.727:0.1787:0.0943	.	303;1022	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	F	1022;303;207	ENSP00000376384:L303F	ENSP00000357566:L1022F	L	+	1	0	GPR123	134792229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.313000	0.43735	1.162000	0.42619	0.561000	0.74099	CTC		0.682	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			45	181	0	0	0	1	0	45	181				
ELSPBP1	64100	broad.mit.edu	37	19	48519159	48519159	+	Missense_Mutation	SNP	G	G	A	rs370140212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48519159G>A	ENST00000339841.2	+	4	396	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	73	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATTACCCACGCTGTATCTTC	0.463																																						ENST00000339841.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(217-219)cGc>cAc		epididymal sperm binding protein 1		A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	85.0	93.0		218	2.3	0.8	19		93	0,8600		0,0,4300	no	missense	ELSPBP1	NM_022142.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	73/224	48519159	1,13005	2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48519159G>A	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.218G>A	19.37:g.48519159G>A	ENSP00000340660:p.Arg73His					ELSPBP1_ENST00000597519.1_Intron	p.R73H	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	4	396	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	73			Fibronectin type-II 2.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.218G>A	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	g	8.098	0.776018	0.16051	2.27E-4	0.0	ENSG00000169393	ENST00000339841	T	0.09817	2.94	3.4	2.35	0.29111	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.186449	0.24554	N	0.037536	T	0.09555	0.0235	M	0.62016	1.91	0.19945	N	0.999947	P	0.44521	0.837	B	0.38106	0.265	T	0.22312	-1.0220	10	0.15952	T	0.53	.	7.4446	0.27203	0.1314:0.0:0.8686:0.0	.	73	Q96BH3	ESPB1_HUMAN	H	73	ENSP00000340660:R73H	ENSP00000340660:R73H	R	+	2	0	ELSPBP1	53210971	0.746000	0.28272	0.802000	0.32245	0.261000	0.26267	0.922000	0.28734	0.710000	0.31997	-0.246000	0.11932	CGC		0.463	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			54	160	0	0	0	1	0	54	160				
TENM2	57451	broad.mit.edu	37	5	167674181	167674181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167674181C>A	ENST00000518659.1	+	27	6276	c.6237C>A	c.(6235-6237)ttC>ttA	p.F2079L	TENM2_ENST00000545108.1_Missense_Mutation_p.F2078L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1903L|TENM2_ENST00000519204.1_Missense_Mutation_p.F1958L|TENM2_ENST00000520394.1_Missense_Mutation_p.F1840L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2079					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)	p.F1912L(1)									TCTACAGGTTCTCCGAGGAAG	0.542																																						ENST00000519204.1																			1	Substitution - Missense(1)	p.F1912L(1)	large_intestine(1)								c.(5872-5874)ttC>ttA		teneurin transmembrane protein 2							118.0	117.0	117.0					5																	167674181		2016	4184	6200	SO:0001583	missense	57451							g.chr5:167674181C>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.6237C>A	5.37:g.167674181C>A	ENSP00000429430:p.Phe2079Leu					TENM2_ENST00000545108.1_Missense_Mutation_p.F2078L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1903L|TENM2_ENST00000520394.1_Missense_Mutation_p.F1840L|TENM2_ENST00000518659.1_Missense_Mutation_p.F2079L	p.F1958L							26	5992	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5874C>A		.	.	.	.	.	.	.	.	.	.	C	17.11	3.305576	0.60305	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.07;-2.06;-2.18;-2.51;-2.55	5.32	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.93259	0.7852	M	0.85859	2.78	0.48632	D	0.999684	D;D;D	0.76494	0.999;0.998;0.982	D;D;D	0.87578	0.998;0.995;0.961	D	0.90436	0.4428	10	0.20519	T	0.43	.	9.2418	0.37500	0.0:0.7511:0.0:0.2488	.	2078;2079;1840	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2079;2078;1958;1840;1903	ENSP00000429430:F2079L;ENSP00000438635:F2078L;ENSP00000428964:F1958L;ENSP00000427874:F1840L;ENSP00000384905:F1903L	ENSP00000384905:F1903L	F	+	3	2	ODZ2	167606759	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	2.164000	0.42387	0.537000	0.28751	0.561000	0.74099	TTC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		120	444	1	0	2.21197e-46	1	2.71663e-46	120	444				
ARAP1	116985	broad.mit.edu	37	11	72423582	72423582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72423582G>A	ENST00000393609.3	-	6	981	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V|ARAP1_ENST00000359373.5_Missense_Mutation_p.A260V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	260					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACGCGCACGGCCCGTGGGAC	0.667																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(778-780)gCc>gTc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							139.0	118.0	125.0					11																	72423582		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72423582G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.779C>T	11.37:g.72423582G>A	ENSP00000377233:p.Ala260Val					ARAP1_ENST00000393609.3_Missense_Mutation_p.A260V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V	p.A260V			Q96P48	ARAP1_HUMAN			6	1630	-			260					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.779C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453783	0.63290	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.24;3.19;3.24;3.18	4.34	4.34	0.51931	.	0.493437	0.17716	N	0.164432	T	0.06462	0.0166	L	0.27053	0.805	0.30659	N	0.754637	B;B;P;P;P	0.42908	0.437;0.437;0.793;0.689;0.573	B;B;B;B;B	0.35182	0.046;0.046;0.197;0.097;0.099	T	0.06162	-1.0842	10	0.72032	D	0.01	.	12.2025	0.54335	0.0:0.0:1.0:0.0	.	15;15;260;260;20	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	V	260;260;20;15;260;15;15;49	ENSP00000352332:A260V;ENSP00000390461:A260V;ENSP00000377230:A20V;ENSP00000335506:A15V;ENSP00000377233:A260V;ENSP00000392264:A15V;ENSP00000403127:A15V	ENSP00000335506:A15V	A	-	2	0	ARAP1	72101230	0.992000	0.36948	0.998000	0.56505	0.887000	0.51463	4.806000	0.62569	2.250000	0.74265	0.561000	0.74099	GCC		0.667	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		230	1014	0	0	0	1	0	230	1014				
SRRM1	10250	broad.mit.edu	37	1	24993313	24993313	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24993313C>T	ENST00000323848.9	+	13	1951	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W|SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|snoU13_ENST00000459464.1_RNA	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	546	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TAGTGGTAGACGGAGGAGAAG	0.547																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1636-1638)Cgg>Tgg		serine/arginine repetitive matrix 1							45.0	41.0	43.0					1																	24993313		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993313C>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1636C>T	1.37:g.24993313C>T	ENSP00000326261:p.Arg546Trp					SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W|SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|SRRM1_ENST00000479034.1_3'UTR	p.R546W	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	1951	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	546			Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1636C>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865956	0.51588	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.58210	0.35;0.39;0.39	5.75	3.84	0.44239	.	0.000000	0.56097	D	0.000026	T	0.50411	0.1614	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.996;0.993	P;B	0.47744	0.556;0.353	T	0.51293	-0.8724	10	0.72032	D	0.01	-1.6334	7.3672	0.26781	0.3668:0.5543:0.0:0.079	.	558;546	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	W	546;558;555	ENSP00000326261:R546W;ENSP00000391430:R558W;ENSP00000363510:R555W	ENSP00000326261:R546W	R	+	1	2	SRRM1	24865900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.679000	0.37597	0.723000	0.32274	0.650000	0.86243	CGG		0.547	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		45	189	0	0	0	1	0	45	189				
PDE8B	8622	broad.mit.edu	37	5	76715655	76715655	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76715655A>C	ENST00000264917.5	+	19	2238	c.2193A>C	c.(2191-2193)aaA>aaC	p.K731N	PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	731	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AGATGACAAAACACTTTGAAC	0.433																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(2191-2193)aaA>aaC		phosphodiesterase 8B							128.0	109.0	116.0					5																	76715655		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76715655A>C	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2193A>C	5.37:g.76715655A>C	ENSP00000264917:p.Lys731Asn					PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N	p.K731N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	19	2238	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	731			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.2193A>C	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065729	0.55539	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.87	3.53	0.40419	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043664	0.85682	D	0.000000	T	0.72819	0.3508	L	0.38838	1.175	0.46521	D	0.999086	B;P;P;P;P	0.46706	0.27;0.858;0.596;0.858;0.883	B;P;B;P;P	0.50754	0.145;0.517;0.259;0.517;0.649	T	0.71955	-0.4436	10	0.59425	D	0.04	.	5.9761	0.19379	0.6459:0.0:0.3541:0.0	.	634;684;676;711;731	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	N	684;634;731;711;676;196	ENSP00000345446:K684N;ENSP00000330428:K634N;ENSP00000264917:K731N;ENSP00000345646:K711N;ENSP00000331336:K676N;ENSP00000423461:K196N	ENSP00000264917:K731N	K	+	3	2	PDE8B	76751411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.847000	0.39299	1.054000	0.40438	0.533000	0.62120	AAA		0.433	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		14	384	0	0	0	1	0	14	384				
PARVG	64098	broad.mit.edu	37	22	44602221	44602221	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44602221G>T	ENST00000444313.3	+	14	1395	c.911G>T	c.(910-912)aGc>aTc	p.S304I	PARVG_ENST00000422871.1_Missense_Mutation_p.S304I|PARVG_ENST00000415224.1_Missense_Mutation_p.S304I	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	304	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GATGCCAAGAGCACACTGAGG	0.602																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(910-912)aGc>aTc		parvin, gamma							85.0	79.0	81.0					22																	44602221		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44602221G>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.911G>T	22.37:g.44602221G>T	ENSP00000391583:p.Ser304Ile					PARVG_ENST00000444313.2_Missense_Mutation_p.S304I|PARVG_ENST00000415224.1_Missense_Mutation_p.S304I	p.S304I	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			14	1335	+		Ovarian(80;0.024)|all_neural(38;0.0299)	304			CH 2.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.911G>T	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090273	0.36855	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.64618	-0.11;-0.11;-0.11	4.0	1.33	0.21861	Calponin homology domain (5);	0.428844	0.24779	N	0.035679	T	0.71500	0.3347	L	0.58810	1.83	0.43777	D	0.996304	D	0.89917	1.0	D	0.85130	0.997	T	0.69323	-0.5175	10	0.39692	T	0.17	-4.3916	11.0206	0.47715	0.0:0.5995:0.4005:0.0	.	304	Q9HBI0	PARVG_HUMAN	I	304	ENSP00000391453:S304I;ENSP00000391583:S304I;ENSP00000416761:S304I	ENSP00000416761:S304I	S	+	2	0	PARVG	42933554	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.476000	0.53143	0.731000	0.32448	0.491000	0.48974	AGC		0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		45	268	1	0	6.23363e-37	1	7.47573e-37	45	268				
CXorf21	80231	broad.mit.edu	37	X	30577645	30577645	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30577645C>T	ENST00000378962.3	-	3	1150	c.828G>A	c.(826-828)ttG>ttA	p.L276L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	276										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACATCAATTGCAATAGGCGGC	0.388																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(826-828)ttG>ttA		chromosome X open reading frame 21							77.0	68.0	71.0					X																	30577645		2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577645C>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.828G>A	X.37:g.30577645C>T							p.L276L	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	1150	-			276						Silent	SNP	ENST00000378962.3	37	c.828G>A	CCDS14224.1																																																																																				0.388	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		69	288	0	0	0	1	0	69	288				
FANCC	2176	broad.mit.edu	37	9	97879632	97879632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97879632G>A	ENST00000289081.3	-	11	1291	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	FANCC_ENST00000464653.1_5'UTR|RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000375305.1_Missense_Mutation_p.P346L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	346					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGCAAGAGATGGAGAAGTGTA	0.458			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1036-1038)cCa>cTa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							100.0	90.0	93.0					9																	97879632		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97879632G>A	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1037C>T	9.37:g.97879632G>A	ENSP00000289081:p.Pro346Leu					FANCC_ENST00000464653.1_5'UTR|FANCC_ENST00000375305.1_Missense_Mutation_p.P346L	p.P346L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			11	1291	-		Acute lymphoblastic leukemia(62;0.138)	346					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1037C>T	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864764	0.51482	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.54675	0.56;0.56	5.65	5.65	0.86999	.	0.330468	0.33980	N	0.004380	T	0.53997	0.1831	M	0.67953	2.075	0.21416	N	0.999698	D	0.56521	0.976	P	0.46419	0.516	T	0.59257	-0.7488	10	0.59425	D	0.04	-7.3384	9.5099	0.39071	0.0:0.1275:0.6774:0.1952	.	346	Q00597	FANCC_HUMAN	L	346	ENSP00000289081:P346L;ENSP00000364454:P346L	ENSP00000289081:P346L	P	-	2	0	FANCC	96919453	0.882000	0.30256	0.325000	0.25375	0.484000	0.33280	2.583000	0.46094	2.941000	0.99782	0.655000	0.94253	CCA		0.458	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		19	124	0	0	0	1	0	19	124				
GLI1	2735	broad.mit.edu	37	12	57864506	57864506	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864506C>A	ENST00000228682.2	+	12	2074	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	GLI1_ENST00000546141.1_Silent_p.G620G|GLI1_ENST00000543426.1_Silent_p.G533G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	661					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGAGCCTGGGCTGTGTCCATA	0.607																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1981-1983)ggC>ggA		GLI family zinc finger 1							34.0	35.0	35.0					12																	57864506		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864506C>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1983C>A	12.37:g.57864506C>A						GLI1_ENST00000543426.1_Silent_p.G533G|GLI1_ENST00000546141.1_Silent_p.G620G	p.G661G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2074	+			661					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.1983C>A	CCDS8940.1																																																																																				0.607	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		38	146	1	0	2.87052e-16	1	3.15093e-16	38	146				
NUP188	23511	broad.mit.edu	37	9	131763821	131763821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131763821G>A	ENST00000372577.2	+	35	3878	c.3857G>A	c.(3856-3858)gGc>gAc	p.G1286D	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1286					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGTGTCCTGGGCCTGCACCTG	0.612																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3856-3858)gGc>gAc		nucleoporin 188kDa							62.0	56.0	58.0					9																	131763821		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131763821G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3857G>A	9.37:g.131763821G>A	ENSP00000361658:p.Gly1286Asp						p.G1286D	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			35	3878	+			1286					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3857G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180739	0.78677	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65732	-0.17	5.27	5.27	0.74061	.	0.051262	0.85682	D	0.000000	T	0.69620	0.3131	M	0.65975	2.015	0.54753	D	0.999987	D;P	0.54397	0.966;0.952	P;P	0.49140	0.543;0.601	T	0.74657	-0.3592	10	0.72032	D	0.01	-6.8777	17.8614	0.88783	0.0:0.0:1.0:0.0	.	619;1286	E9PET9;Q5SRE5	.;NU188_HUMAN	D	1175;1286	ENSP00000361658:G1286D	ENSP00000349125:G1175D	G	+	2	0	NUP188	130803642	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.631000	0.74277	2.473000	0.83533	0.313000	0.20887	GGC		0.612	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			36	246	0	0	0	1	0	36	246				
MED13L	23389	broad.mit.edu	37	12	116714891	116714891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116714891C>T	ENST00000281928.3	-	1	252	c.46G>A	c.(46-48)Gat>Aat	p.D16N	MED13L_ENST00000551197.1_5'Flank	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	16						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAGTGACAATCCTCCAGGCTC	0.716																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(46-48)Gat>Aat		mediator complex subunit 13-like							10.0	9.0	9.0					12																	116714891		2122	4184	6306	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116714891C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.46G>A	12.37:g.116714891C>T	ENSP00000281928:p.Asp16Asn						p.D16N	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	1	252	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		16					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.46G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506221	0.64410	.	.	ENSG00000123066	ENST00000281928	D	0.87256	-2.23	2.44	1.51	0.23008	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	1.203760	0.06820	N	0.792134	D	0.86543	0.5958	M	0.81341	2.54	0.31603	N	0.652473	B	0.16396	0.017	B	0.09377	0.004	T	0.77582	-0.2534	10	0.62326	D	0.03	.	6.5042	0.22186	0.0:0.8402:0.0:0.1598	.	16	Q71F56	MD13L_HUMAN	N	16	ENSP00000281928:D16N	ENSP00000281928:D16N	D	-	1	0	MED13L	115199274	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	5.716000	0.68437	0.137000	0.18759	0.385000	0.25706	GAT		0.716	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			6	34	0	0	0	1	0	6	34				
OTX1	5013	broad.mit.edu	37	2	63283061	63283061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283061C>T	ENST00000282549.2	+	5	951	c.675C>T	c.(673-675)taC>taT	p.Y225Y	OTX1_ENST00000366671.3_Silent_p.Y225Y	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	225					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCATGTCCTACGGCCAGGGCG	0.652																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(673-675)taC>taT		orthodenticle homeobox 1							38.0	39.0	39.0					2																	63283061		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283061C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.675C>T	2.37:g.63283061C>T						OTX1_ENST00000366671.3_Silent_p.Y225Y	p.Y225Y	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	951	+	Lung NSC(7;0.121)|all_lung(7;0.211)		225					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.675C>T	CCDS1873.1																																																																																				0.652	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			104	337	0	0	0	1	0	104	337				
ZNF782	158431	broad.mit.edu	37	9	99581465	99581465	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581465G>T	ENST00000481138.1	-	6	1501	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGATTCTACAGAAACAATTTC	0.358																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(838-840)ttC>ttA		zinc finger protein 782							85.0	89.0	88.0					9																	99581465		2203	4299	6502	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581465G>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.840C>A	9.37:g.99581465G>T	ENSP00000419397:p.Phe280Leu					ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L	p.F280L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1501	-		Acute lymphoblastic leukemia(62;0.0527)	280					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.840C>A	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.062972|3.062972	0.55432|0.55432	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.05081|.	3.56;3.5|.	3.8|3.8	2.91|2.91	0.33838|0.33838	Zinc finger, C2H2 (1);|.	0.491488|.	0.15252|.	N|.	0.272278|.	T|T	0.41627|0.41627	0.1167|0.1167	L|L	0.48174|0.48174	1.505|1.505	0.20563|0.20563	N|N	0.999882|0.999882	B|.	0.25904|.	0.137|.	B|.	0.27715|.	0.082|.	T|T	0.24941|0.24941	-1.0146|-1.0146	10|5	0.59425|.	D|.	0.04|.	.|.	9.737|9.737	0.40395|0.40395	0.1042:0.0:0.8958:0.0|0.1042:0.0:0.8958:0.0	.|.	280|.	Q6ZMW2|.	ZN782_HUMAN|.	L|M	280;148|269	ENSP00000419397:F280L;ENSP00000440624:F148L|.	ENSP00000419397:F280L|.	F|L	-|-	3|1	2|2	ZNF782|ZNF782	98621286|98621286	0.867000|0.867000	0.29959|0.29959	0.093000|0.093000	0.20910|0.20910	0.015000|0.015000	0.08874|0.08874	0.649000|0.649000	0.24843|0.24843	1.202000|1.202000	0.43218|0.43218	0.650000|0.650000	0.86243|0.86243	TTC|CTG		0.358	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		72	346	1	0	4.29146e-36	1	5.13238e-36	72	346				
PDGFRB	5159	broad.mit.edu	37	5	149512485	149512485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149512485G>A	ENST00000261799.4	-	7	1424	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	319					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTCTCCCAGGAGCCGCACG	0.647			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(955-957)Ctg>Ttg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						28.0	23.0	25.0					5																	149512485		2198	4292	6490	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149512485G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.955C>T	5.37:g.149512485G>A							p.L319L	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1424	-		all_hematologic(541;0.224)	319					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.955C>T	CCDS4303.1																																																																																				0.647	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		8	32	0	0	0	1	0	8	32				
FGFR1OP2	26127	broad.mit.edu	37	12	27116329	27116329	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27116329G>T	ENST00000229395.3	+	6	907	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.A151S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	189					wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AATGAGGAAAGCCATTGAAAT	0.373																																						ENST00000229395.3																			0				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(565-567)Gcc>Tcc		FGFR1 oncogene partner 2							86.0	80.0	82.0					12																	27116329		2203	4300	6503	SO:0001583	missense	26127					cytoplasm		g.chr12:27116329G>T	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.565G>T	12.37:g.27116329G>T	ENSP00000229395:p.Ala189Ser					FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.A151S	p.A189S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			6	907	+	Colorectal(261;0.0847)		189					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	ENST00000229395.3	37	c.565G>T	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	.	34	5.336050	0.95758	.	.	ENSG00000111790	ENST00000229395;ENST00000327214	.	.	.	5.22	5.22	0.72569	.	0.047999	0.85682	N	0.000000	D	0.83672	0.5305	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.985	D	0.84292	0.0500	9	0.52906	T	0.07	-24.0077	19.6699	0.95907	0.0:0.0:1.0:0.0	.	151;189	Q9NVK5-2;Q9NVK5	.;FGOP2_HUMAN	S	189;151	.	ENSP00000229395:A189S	A	+	1	0	FGFR1OP2	27007596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.971000	0.93419	2.817000	0.96982	0.563000	0.77884	GCC		0.373	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633		47	167	1	0	7.34454e-26	1	8.44522e-26	47	167				
NUP214	8021	broad.mit.edu	37	9	134103652	134103652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134103652C>A	ENST00000359428.5	+	33	6152	c.6008C>A	c.(6007-6009)cCt>cAt	p.P2003H	NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H|NUP214_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H			P35658	NU214_HUMAN	nucleoporin 214kDa	2003	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTACAAGCCCTCTGGGCTCG	0.637			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(6007-6009)cCt>cAt		nucleoporin 214kDa							44.0	48.0	47.0					9																	134103652		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134103652C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.6008C>A	9.37:g.134103652C>A	ENSP00000352400:p.Pro2003His					NUP214_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H|NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H	p.P2003H			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	33	6152	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	2003			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.6008C>A	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.844751|2.844751	0.51164|0.51164	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000498010|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	.|T;T;T;T	.|0.60299	.|0.76;0.78;0.77;0.2	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.43919	.|D	.|0.000503	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.994;0.996	T|T	0.69837|0.69837	-0.5037|-0.5037	5|10	.|0.66056	.|D	.|0.02	-22.1057|-22.1057	18.1351|18.1351	0.89616|0.89616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|829;1597;1993;2003	.|B7ZAV2;Q5JUP9;P35658-4;P35658	.|.;.;.;NU214_HUMAN	I|H	31|2003;1993;2004;1982;1597;1432;829	.|ENSP00000352400:P2003H;ENSP00000396576:P1993H;ENSP00000405014:P2004H;ENSP00000436793:P829H	.|ENSP00000352400:P2003H	L|P	+|+	1|2	0|0	NUP214|NUP214	133093473|133093473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.687000|5.687000	0.68219|0.68219	2.531000|2.531000	0.85337|0.85337	0.563000|0.563000	0.77884|0.77884	CTC|CCT		0.637	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		44	264	1	0	1.03325e-14	1	1.12462e-14	44	264				
HELZ	9931	broad.mit.edu	37	17	65162603	65162603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65162603C>T	ENST00000358691.5	-	15	2052	c.1886G>A	c.(1885-1887)aGt>aAt	p.S629N	HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	629						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCTGTTAGGACTCCATGGTAT	0.358																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1885-1887)aGt>aAt		helicase with zinc finger							141.0	129.0	133.0					17																	65162603		1851	4112	5963	SO:0001583	missense	9931							g.chr17:65162603C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1886G>A	17.37:g.65162603C>T	ENSP00000351524:p.Ser629Asn					HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	p.S629N	NM_014877.3	NP_055692.2					15	2052	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1886G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637614	0.47049	.	.	ENSG00000198265	ENST00000358691	D	0.84223	-1.82	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	N	0.17082	0.46	0.80722	D	1	B;B	0.31837	0.342;0.288	B;B	0.28709	0.093;0.076	T	0.74112	-0.3770	10	0.36615	T	0.2	-16.2585	19.6559	0.95842	0.0:1.0:0.0:0.0	.	629;629	B7ZLW2;P42694	.;HELZ_HUMAN	N	629	ENSP00000351524:S629N	ENSP00000351524:S629N	S	-	2	0	HELZ	62593065	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.358000	0.79466	2.657000	0.90304	0.491000	0.48974	AGT		0.358	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		73	327	0	0	0	1	0	73	327				
COA4	51287	broad.mit.edu	37	11	73584383	73584383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73584383C>T	ENST00000355693.4	-	2	288	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	COA4_ENST00000545127.1_Missense_Mutation_p.R14Q|COA4_ENST00000541455.1_Missense_Mutation_p.R23Q|COA4_ENST00000537581.1_5'Flank|COA4_ENST00000537289.1_Missense_Mutation_p.R14Q	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	14						mitochondrion (GO:0005739)											TTTCTTCACCCGTTGGGTCCA	0.547																																						ENST00000541455.1																			0											c.(67-69)cGg>cAg		cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)							66.0	74.0	71.0					11																	73584383		2200	4293	6493	SO:0001583	missense	51287							g.chr11:73584383C>T	AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Mitochondrial respiratory chain complex assembly factors"""	24604	protein-coding gene	gene with protein product		608016	"""coiled-coil-helix-coiled-coil-helix domain containing 8"""	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.41G>A	11.37:g.73584383C>T	ENSP00000347919:p.Arg14Gln					COA4_ENST00000537289.1_Missense_Mutation_p.R14Q|COA4_ENST00000355693.4_Missense_Mutation_p.R14Q|COA4_ENST00000545127.1_Missense_Mutation_p.R14Q	p.R23Q							2	461	-								B2RAA0|Q69YU4	Missense_Mutation	SNP	ENST00000355693.4	37	c.68G>A	CCDS8225.1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160663	0.01686	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	.	.	.	6.17	-2.03	0.07365	.	0.455201	0.24927	N	0.034483	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	8	0.08599	T	0.76	-0.3931	5.6892	0.17821	0.0:0.2297:0.4126:0.3577	.	14	Q9NYJ1	CHCH8_HUMAN	Q	14;14;23;14	.	ENSP00000347919:R14Q	R	-	2	0	CHCHD8	73262031	0.000000	0.05858	0.006000	0.13384	0.057000	0.15508	-0.336000	0.07863	-0.257000	0.09459	-1.073000	0.02249	CGG		0.547	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565		12	392	0	0	0	1	0	12	392				
BRD7	29117	broad.mit.edu	37	16	50402680	50402680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50402680G>A	ENST00000394688.3	-	1	165	c.6C>T	c.(4-6)ggC>ggT	p.G2G	BRD7_ENST00000394689.2_Silent_p.G2G|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	2					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGTGCTTCTTGCCCATGTCCG	0.771																																						ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(4-6)ggC>ggT		bromodomain containing 7							24.0	23.0	24.0					16																	50402680		2179	4254	6433	SO:0001819	synonymous_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50402680G>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.6C>T	16.37:g.50402680G>A						BRD7_ENST00000401491.3_5'UTR|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000394689.2_Silent_p.G2G	p.G2G			Q9NPI1	BRD7_HUMAN			1	165	-		all_cancers(37;0.0127)	2					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	ENST00000394688.3	37	c.6C>T	CCDS10742.1																																																																																				0.771	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		51	203	0	0	0	1	0	51	203				
CES1	1066	broad.mit.edu	37	16	55844569	55844569	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55844569G>T	ENST00000361503.4	-	11	1305	c.1175C>A	c.(1174-1176)gCt>gAt	p.A392D	CES1_ENST00000422046.2_Missense_Mutation_p.A391D|CES1_ENST00000360526.3_Missense_Mutation_p.A393D			P23141	EST1_HUMAN	carboxylesterase 1	392					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CAGTTCCTTAGCAATGCACTG	0.483																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1171-1173)gCt>gAt		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						127.0	136.0	133.0					16																	55844569		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844569G>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1175C>A	16.37:g.55844569G>T	ENSP00000355193:p.Ala392Asp					CES1_ENST00000360526.3_Missense_Mutation_p.A393D|CES1_ENST00000361503.4_Missense_Mutation_p.A392D	p.A391D			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1453	-			392					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.1172C>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.953664	0.34471	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.08984	3.09;3.09;3.03	4.69	4.69	0.59074	Carboxylesterase, type B (1);	0.644142	0.15298	N	0.269790	T	0.06872	0.0175	N	0.11131	0.1	0.09310	N	1	B;B;B	0.20261	0.021;0.043;0.017	B;B;B	0.30495	0.116;0.116;0.071	T	0.34551	-0.9824	10	0.59425	D	0.04	.	13.1724	0.59606	0.0:0.0:1.0:0.0	.	391;392;393	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	D	393;392;391;257	ENSP00000353720:A393D;ENSP00000355193:A392D;ENSP00000390492:A391D	ENSP00000353720:A393D	A	-	2	0	CES1	54402070	0.507000	0.26146	0.005000	0.12908	0.003000	0.03518	5.319000	0.65835	2.182000	0.69389	0.456000	0.33151	GCT		0.483	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		19	844	1	0	1.01871e-10	1	1.082e-10	19	844				
PCDHGA8	9708	broad.mit.edu	37	5	140772663	140772663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140772663C>A	ENST00000398604.2	+	1	283	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGAGGAGCTCTGCGCTCA	0.517																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(283-285)Ctc>Atc									31.0	38.0	36.0					5																	140772663		2167	4290	6457	SO:0001583	missense	0							g.chr5:140772663C>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.283C>A	5.37:g.140772663C>A	ENSP00000381605:p.Leu95Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L95I	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	283	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.283C>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	9.529	1.110383	0.20714	.	.	ENSG00000253767	ENST00000398604	T	0.39592	1.07	5.26	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.351709	0.15671	U	0.250390	T	0.41351	0.1155	L	0.52126	1.63	0.25431	N	0.988188	B;B	0.25486	0.127;0.048	B;B	0.35971	0.215;0.096	T	0.33979	-0.9847	10	0.19147	T	0.46	.	13.2724	0.60167	0.3938:0.6062:0.0:0.0	.	95;95	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	I	95	ENSP00000381605:L95I	ENSP00000381605:L95I	L	+	1	0	PCDHGA8	140752847	0.974000	0.33945	1.000000	0.80357	0.888000	0.51559	0.579000	0.23788	1.210000	0.43336	0.655000	0.94253	CTC		0.517	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		75	336	1	0	2.49587e-40	1	3.02561e-40	75	336				
FDXR	2232	broad.mit.edu	37	17	72863044	72863044	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72863044C>A	ENST00000293195.5	-	3	256				FDXR_ENST00000582944.1_Intron|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000581969.1_Intron|FDXR_ENST00000581530.1_Intron|FDXR_ENST00000413947.2_Intron|FDXR_ENST00000544854.1_Intron|FDXR_ENST00000442102.2_Missense_Mutation_p.Q87H|FDXR_ENST00000455107.2_Intron	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase						cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GAGAGAGAGGCTGGGACGCCC	0.632																																						ENST00000442102.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(259-261)caG>caT		ferredoxin reductase							27.0	26.0	26.0					17																	72863044		2202	4299	6501	SO:0001627	intron_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72863044C>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.178-46G>T	17.37:g.72863044C>A						FDXR_ENST00000293195.5_Intron|FDXR_ENST00000544854.1_Intron|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000581530.1_Intron|FDXR_ENST00000581969.1_Intron|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000582944.1_Intron|FDXR_ENST00000455107.2_Intron|FDXR_ENST00000413947.2_Intron	p.Q87H	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN			3	347	-	all_lung(278;0.172)|Lung NSC(278;0.207)		59					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.261G>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	7.495	0.651484	0.14516	.	.	ENSG00000161513	ENST00000442102	T	0.06687	3.27	4.46	3.45	0.39498	.	.	.	.	.	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41734	-0.9492	7	.	.	.	.	9.4188	0.38539	0.213:0.787:0.0:0.0	.	87	B4DHX5	.	H	87	ENSP00000416515:Q87H	.	Q	-	3	2	FDXR	70374639	0.003000	0.15002	0.002000	0.10522	0.087000	0.18053	0.759000	0.26461	0.822000	0.34565	0.561000	0.74099	CAG		0.632	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		7	61	1	0	2.0095e-06	1	2.07161e-06	7	61				
PFKFB4	5210	broad.mit.edu	37	3	48587583	48587583	+	Missense_Mutation	SNP	C	C	T	rs147977517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48587583C>T	ENST00000232375.3	-	2	294	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R61Q	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	61	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTTCAGGTATCGAGTCAGCTT	0.562																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(181-183)cGa>cAa		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							141.0	113.0	123.0					3																	48587583		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48587583C>T	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.182G>A	3.37:g.48587583C>T	ENSP00000232375:p.Arg61Gln					PFKFB4_ENST00000416568.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q	p.R61Q	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	2	294	-			61			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.182G>A	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561027	0.96527	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.89	4.89	0.63831	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.993;0.994;0.997;0.966	D	0.89580	0.3820	9	0.87932	D	0	-5.0995	15.5865	0.76489	0.0:1.0:0.0:0.0	.	50;61;61;61	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	Q	61;50;61;61;27;61;50;27;64	.	ENSP00000232375:R61Q	R	-	2	0	PFKFB4	48562587	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.737000	0.68606	2.532000	0.85374	0.655000	0.94253	CGA		0.562	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		48	220	0	0	0	1	0	48	220				
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(823-825)ggC>ggT		RNA polymerase II associated protein 2							117.0	115.0	116.0					1																	92789302		2203	4300	6503	SO:0001819	synonymous_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789302C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.825C>T	1.37:g.92789302C>T						RPAP2_ENST00000484158.1_3'UTR	p.G275G	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	934	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	275					C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	37	c.825C>T	CCDS740.1																																																																																				0.373	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		40	376	0	0	0	1	0	40	376				
MICAL3	57553	broad.mit.edu	37	22	18273538	18273538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18273538G>A	ENST00000441493.2	-	32	6321	c.5969C>T	c.(5968-5970)gCt>gTt	p.A1990V	MICAL3_ENST00000580469.1_5'Flank|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1990					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAGCATGGCAGCCTCCAGGTC	0.607																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(5968-5970)gCt>gTt		microtubule associated monooxygenase, calponin and LIM domain containing 3							35.0	39.0	38.0					22																	18273538		2088	4214	6302	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18273538G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5969C>T	22.37:g.18273538G>A	ENSP00000416015:p.Ala1990Val					XXbac-B461K10.4_ENST00000476405.1_RNA	p.A1990V	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	32	6321	-		all_epithelial(15;0.198)	1990					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.5969C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271560	0.80469	.	.	ENSG00000093100	ENST00000441493	T	0.66099	-0.19	5.0	3.98	0.46160	.	0.281639	0.31566	N	0.007430	T	0.73210	0.3558	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.73990	-0.3808	10	0.59425	D	0.04	.	8.843	0.35153	0.0764:0.0:0.7759:0.1478	.	1990	Q7RTP6	MICA3_HUMAN	V	1990	ENSP00000416015:A1990V	ENSP00000416015:A1990V	A	-	2	0	XXbac-B461K10.4	16653538	1.000000	0.71417	0.982000	0.44146	0.968000	0.65278	5.543000	0.67225	1.242000	0.43836	-0.291000	0.09656	GCT		0.607	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	85	0	0	0	1	0	4	85				
EPHA8	2046	broad.mit.edu	37	1	22903086	22903086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903086G>A	ENST00000166244.3	+	3	608	c.536G>A	c.(535-537)cGc>cAc	p.R179H	EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H|EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	179	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.		R -> C (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGCAAGCGCGGCTTCTAC	0.612																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(535-537)cGc>cAc		EPH receptor A8							81.0	72.0	75.0					1																	22903086		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903086G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.536G>A	1.37:g.22903086G>A	ENSP00000166244:p.Arg179His					EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H|EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H	p.R179H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	608	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	179		R -> C (in a gastric adenocarcinoma sample; somatic mutation).			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.536G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555036	0.65425	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.10382	2.88;2.88;2.88	3.93	3.93	0.45458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.27063	0.0663	M	0.66439	2.03	0.45554	D	0.998501	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.00847	-1.1542	10	0.59425	D	0.04	.	8.6547	0.34055	0.1084:0.0:0.8916:0.0	.	179;179	P29322;P29322-2	EPHA8_HUMAN;.	H	179	ENSP00000166244:R179H;ENSP00000363775:R179H;ENSP00000440274:R179H	ENSP00000166244:R179H	R	+	2	0	EPHA8	22775673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.435000	0.52849	2.008000	0.58898	0.442000	0.29010	CGC		0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		65	268	0	0	0	1	0	65	268				
MYL4	4635	broad.mit.edu	37	17	45299202	45299202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45299202G>A	ENST00000354968.1	+	5	596	c.468G>A	c.(466-468)cgG>cgA	p.R156R	snoU13_ENST00000516279.1_RNA|MYL4_ENST00000572316.1_Silent_p.R156R|MYL4_ENST00000393450.1_Silent_p.R156R	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	156	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTGAGCTTCGGCACGTCCTTG	0.592																																						ENST00000354968.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						c.(466-468)cgG>cgA		myosin, light chain 4, alkali; atrial, embryonic							97.0	73.0	81.0					17																	45299202		2203	4300	6503	SO:0001819	synonymous_variant	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45299202G>A		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.468G>A	17.37:g.45299202G>A						MYL4_ENST00000572316.1_Silent_p.R156R|MYL4_ENST00000393450.1_Silent_p.R156R	p.R156R	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN			5	596	+			156			EF-hand 2.		D3DXJ7|P11783	Silent	SNP	ENST00000354968.1	37	c.468G>A	CCDS11510.1																																																																																				0.592	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		6	280	0	0	0	1	0	6	280				
ANKRD30A	91074	broad.mit.edu	37	10	37441021	37441021	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37441021A>G	ENST00000602533.1	+	12	1610	c.1511A>G	c.(1510-1512)gAc>gGc	p.D504G	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	560					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAACAAAAGGACTATGAAGAA	0.299																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1510-1512)gAc>gGc		ankyrin repeat domain 30A							122.0	110.0	114.0					10																	37441021		1798	4065	5863	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37441021A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1511A>G	10.37:g.37441021A>G	ENSP00000473551:p.Asp504Gly					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G	p.D504G			Q9BXX3	AN30A_HUMAN			12	1610	+			560					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1511A>G		.	.	.	.	.	.	.	.	.	.	.	11.34	1.611090	0.28712	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07114	3.22;3.22	1.71	1.71	0.24356	.	.	.	.	.	T	0.13586	0.0329	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.15636	-1.0430	9	0.49607	T	0.09	.	5.5239	0.16947	1.0:0.0:0.0:0.0	.	560	Q9BXX3	AN30A_HUMAN	G	504	ENSP00000354432:D504G;ENSP00000363792:D504G	ENSP00000354432:D504G	D	+	2	0	ANKRD30A	37481027	0.097000	0.21791	0.130000	0.21974	0.004000	0.04260	0.505000	0.22642	1.038000	0.40049	0.315000	0.21342	GAC		0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		41	193	0	0	0	1	0	41	193				
THOC1	9984	broad.mit.edu	37	18	265360	265360	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265360T>G	ENST00000261600.6	-	3	139	c.132A>C	c.(130-132)gaA>gaC	p.E44D	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	44					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTTTTCATTTTCACTATTAA	0.299																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(130-132)gaA>gaC		THO complex 1							53.0	50.0	51.0					18																	265360		1799	4065	5864	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:265360T>G	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.132A>C	18.37:g.265360T>G	ENSP00000261600:p.Glu44Asp					THOC1_ENST00000582313.1_5'UTR	p.E44D	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			3	139	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	44					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.132A>C	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086039	0.36855	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.27053	0.805	0.50039	D	0.999844	B;B	0.32467	0.285;0.372	B;B	0.30943	0.122;0.108	T	0.36504	-0.9745	9	0.14252	T	0.57	-17.3277	16.2861	0.82722	0.0:0.0:0.0:1.0	.	44;44	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	44	.	ENSP00000261600:E44D	E	-	3	2	THOC1	255360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.961000	0.56759	2.322000	0.78497	0.528000	0.53228	GAA		0.299	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		16	64	0	0	0	1	0	16	64				
SYT10	341359	broad.mit.edu	37	12	33559978	33559978	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33559978G>T	ENST00000228567.3	-	3	1119	c.823C>A	c.(823-825)Ctt>Att	p.L275I	SYT10_ENST00000535526.1_Missense_Mutation_p.L94I|RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	275	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGGAAGAAGATACATCTTC	0.343																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(823-825)Ctt>Att		synaptotagmin X							66.0	66.0	66.0					12																	33559978		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33559978G>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.823C>A	12.37:g.33559978G>T	ENSP00000228567:p.Leu275Ile					SYT10_ENST00000535526.1_Missense_Mutation_p.L94I	p.L275I	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			3	1119	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		275			C2 1.		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.823C>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286843	0.80803	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.71579	-0.58;-0.58	4.94	4.94	0.65067	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.36815	U	0.002390	T	0.80341	0.4605	L	0.46741	1.465	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	T	0.79750	-0.1672	10	0.46703	T	0.11	.	18.0323	0.89289	0.0:0.0:1.0:0.0	.	275	Q6XYQ8	SYT10_HUMAN	I	275;94	ENSP00000228567:L275I;ENSP00000438691:L94I	ENSP00000228567:L275I	L	-	1	0	SYT10	33451245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.355000	0.73041	2.665000	0.90641	0.563000	0.77884	CTT		0.343	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		44	201	1	0	1.06522e-23	1	1.21267e-23	44	201				
NTS	4922	broad.mit.edu	37	12	86272330	86272330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:86272330G>A	ENST00000256010.6	+	3	450	c.343G>A	c.(343-345)Gct>Act	p.A115T	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	115					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						TCACAGCAGGGCTTTTCAACA	0.353																																						ENST00000256010.6																			0				large_intestine(2)|lung(6)	8						c.(343-345)Gct>Act		neurotensin							72.0	71.0	71.0					12																	86272330		2203	4300	6503	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86272330G>A		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.343G>A	12.37:g.86272330G>A	ENSP00000256010:p.Ala115Thr					NTS_ENST00000551529.1_Intron	p.A115T	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN			3	450	+			115						Missense_Mutation	SNP	ENST00000256010.6	37	c.343G>A	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773904	0.49786	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.32	5.32	0.75619	.	0.294351	0.34750	N	0.003709	T	0.49474	0.1559	L	0.50333	1.59	0.34515	D	0.707496	P	0.39717	0.684	B	0.41036	0.346	T	0.61628	-0.7024	9	0.32370	T	0.25	-2.8639	13.3229	0.60442	0.0757:0.0:0.9243:0.0	.	115	P30990	NEUT_HUMAN	T	115;60	.	ENSP00000256010:A115T	A	+	1	0	NTS	84796461	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	2.658000	0.46733	2.477000	0.83638	0.563000	0.77884	GCT		0.353	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2			77	296	0	0	0	1	0	77	296				
EDA	1896	broad.mit.edu	37	X	68836217	68836217	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68836217G>A	ENST00000374552.4	+	1	307	c.65G>A	c.(64-66)aGc>aAc	p.S22N	EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000338901.3_Missense_Mutation_p.S22N|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Missense_Mutation_p.S22N|EDA_ENST00000527388.1_Missense_Mutation_p.S22N|EDA_ENST00000524573.1_Missense_Mutation_p.S22N	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	22					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GAGCGAGGGAGCCAGGGCTGC	0.716																																						ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14	GRCh37	CD011600	EDA	D		c.(64-66)aGc>aAc		ectodysplasin A							15.0	16.0	15.0					X																	68836217		2187	4241	6428	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:68836217G>A	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.65G>A	X.37:g.68836217G>A	ENSP00000363680:p.Ser22Asn					EDA_ENST00000374553.2_Missense_Mutation_p.S22N|EDA_ENST00000527388.1_Missense_Mutation_p.S22N|EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000524573.1_Missense_Mutation_p.S22N|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000338901.3_Missense_Mutation_p.S22N	p.S22N	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			1	307	+			22					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.65G>A	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010706	0.19277	.	.	ENSG00000158813	ENST00000513754;ENST00000338901;ENST00000374552;ENST00000374553;ENST00000525810;ENST00000527388;ENST00000524573	D;D;D;D;D;D	0.97791	-4.54;-3.69;-3.73;-4.5;-4.54;-3.58	4.56	1.84	0.25277	.	0.635376	0.15579	N	0.255024	D	0.92925	0.7749	N	0.19112	0.55	0.19775	N	0.999951	B;B;B;B;B;B;B;B	0.13594	0.001;0.0;0.001;0.003;0.001;0.003;0.008;0.003	B;B;B;B;B;B;B;B	0.11329	0.001;0.001;0.001;0.004;0.002;0.002;0.006;0.002	D	0.86464	0.1781	10	0.72032	D	0.01	-1.5345	6.1542	0.20328	0.3371:0.0:0.6629:0.0	.	22;22;22;22;22;22;22;22	Q92838-9;Q92838;Q92838-3;Q92838-8;Q92838-6;Q92838-2;Q92838-7;Q92838-5	.;EDA_HUMAN;.;.;.;.;.;.	N	22	ENSP00000340611:S22N;ENSP00000363680:S22N;ENSP00000363681:S22N;ENSP00000434195:S22N;ENSP00000434861:S22N;ENSP00000432585:S22N	ENSP00000340611:S22N	S	+	2	0	EDA	68752942	1.000000	0.71417	0.928000	0.36995	0.366000	0.29705	2.389000	0.44407	0.061000	0.16311	-0.208000	0.12717	AGC		0.716	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		13	158	0	0	0	1	0	13	158				
HAAO	23498	broad.mit.edu	37	2	43015685	43015685	+	Missense_Mutation	SNP	A	A	T	rs200729980		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43015685A>T	ENST00000294973.6	-	2	198	c.143T>A	c.(142-144)aTc>aAc	p.I48N		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						ACCCTCTTCGATGTGATAGTC	0.597													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21701	0.0		0.0	False		,,,				2504	0.0					ENST00000294973.6																			0				breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						c.(142-144)aTc>aAc		3-hydroxyanthranilate 3,4-dioxygenase							252.0	179.0	203.0					2																	43015685		2203	4300	6503	SO:0001583	missense	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:43015685A>T	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.143T>A	2.37:g.43015685A>T	ENSP00000294973:p.Ile48Asn						p.I48N	NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN			2	198	-			48			Domain A (catalytic) (By similarity).			Missense_Mutation	SNP	ENST00000294973.6	37	c.143T>A	CCDS33187.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	21.6	4.174278	0.78452	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.33654	1.4;1.4	5.44	5.44	0.79542	Cupin, RmlC-type (1);	0.068157	0.56097	D	0.000034	T	0.66406	0.2786	M	0.90650	3.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74216	-0.3737	10	0.87932	D	0	.	13.4538	0.61187	1.0:0.0:0.0:0.0	.	48	P46952	3HAO_HUMAN	N	48;14	ENSP00000294973:I48N;ENSP00000412601:I14N	ENSP00000294973:I48N	I	-	2	0	HAAO	42869189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.083000	0.76859	2.065000	0.61736	0.533000	0.62120	ATC		0.597	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			13	439	0	0	0	1	0	13	439				
NQO2	4835	broad.mit.edu	37	6	3017130	3017130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3017130C>T	ENST00000338130.2	+	9	1142	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	NQO2_ENST00000380455.4_Missense_Mutation_p.L144F|NQO2_ENST00000380441.1_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	144					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TAAACTAGCGCTCCTTTCCGT	0.547																																						ENST00000338130.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7						c.(430-432)Ctc>Ttc		NAD(P)H dehydrogenase, quinone 2	Menadione(DB00170)|NADH(DB00157)						132.0	99.0	110.0					6																	3017130		2203	4300	6503	SO:0001583	missense	4835					cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity	g.chr6:3017130C>T	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.430C>T	6.37:g.3017130C>T	ENSP00000337773:p.Leu144Phe					NQO2_ENST00000380455.4_Missense_Mutation_p.L144F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380441.1_Missense_Mutation_p.L106F	p.L144F			P16083	NQO2_HUMAN			9	1142	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	144					B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	37	c.430C>T	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009775	0.35415	.	.	ENSG00000124588	ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T	0.12361	2.69;2.96;2.69;2.96;2.69	5.4	4.52	0.55395	Flavodoxin-like fold (1);	0.108382	0.64402	D	0.000013	T	0.16896	0.0406	M	0.69463	2.115	0.39564	D	0.969173	D	0.56287	0.975	P	0.61132	0.884	T	0.02075	-1.1218	10	0.59425	D	0.04	-27.4601	6.6329	0.22867	0.337:0.5798:0.0:0.0831	.	144	P16083	NQO2_HUMAN	F	144;106;144;106;144	ENSP00000337773:L144F;ENSP00000369806:L106F;ENSP00000369822:L144F;ENSP00000369821:L106F;ENSP00000369795:L144F	ENSP00000337773:L144F	L	+	1	0	NQO2	2962129	0.541000	0.26417	0.022000	0.16811	0.025000	0.11179	0.754000	0.26390	1.246000	0.43901	0.563000	0.77884	CTC		0.547	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			24	158	0	0	0	1	0	24	158				
MMP17	4326	broad.mit.edu	37	12	132334409	132334409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132334409G>A	ENST00000360564.1	+	9	1369	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MMP17_ENST00000535291.1_Missense_Mutation_p.D339N|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	423					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CCCCGTCTCCGACTTCAGCCT	0.602																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1267-1269)Gac>Aac		matrix metallopeptidase 17 (membrane-inserted)							100.0	104.0	103.0					12																	132334409		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132334409G>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1267G>A	12.37:g.132334409G>A	ENSP00000353767:p.Asp423Asn					MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.D339N	p.D423N	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	9	1369	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		423			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1267G>A	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093522	0.94149	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	L	0.58583	1.82	0.80722	D	1	D	0.56746	0.977	P	0.48552	0.581	T	0.13442	-1.0509	10	0.66056	D	0.02	.	17.1756	0.86841	0.0:0.0:1.0:0.0	.	423	Q9ULZ9	MMP17_HUMAN	N	423;339;264;53	ENSP00000353767:D423N;ENSP00000441106:D339N;ENSP00000442104:D264N;ENSP00000439542:D53N	ENSP00000353767:D423N	D	+	1	0	MMP17	130900362	1.000000	0.71417	0.965000	0.40720	0.822000	0.46500	9.750000	0.98875	2.054000	0.61138	0.471000	0.43371	GAC		0.602	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		158	705	0	0	0	1	0	158	705				
ZNF770	54989	broad.mit.edu	37	15	35275070	35275070	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275070T>G	ENST00000356321.4	-	3	910	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	189					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CAAGACACATTTAAAAGGCCT	0.348																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(565-567)aAa>aCa		zinc finger protein 770							61.0	60.0	61.0					15																	35275070		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275070T>G	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.566A>C	15.37:g.35275070T>G	ENSP00000348673:p.Lys189Thr						p.K189T	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	910	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	189					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.566A>C	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751978	0.31046	.	.	ENSG00000198146	ENST00000356321	T	0.18810	2.19	5.28	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.312282	0.25833	N	0.028016	T	0.26666	0.0652	L	0.39633	1.23	0.30520	N	0.768574	P	0.44776	0.843	P	0.51866	0.682	T	0.07102	-1.0790	10	0.34782	T	0.22	-6.6884	11.1873	0.48664	0.0:0.0:0.2942:0.7058	.	189	Q6IQ21	ZN770_HUMAN	T	189	ENSP00000348673:K189T	ENSP00000348673:K189T	K	-	2	0	ZNF770	33062362	0.430000	0.25538	1.000000	0.80357	0.994000	0.84299	0.305000	0.19254	0.986000	0.38683	0.533000	0.62120	AAA		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		37	178	0	0	0	1	0	37	178				
PRKD2	25865	broad.mit.edu	37	19	47178333	47178333	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47178333T>G	ENST00000291281.4	-	17	2606	c.2381A>C	c.(2380-2382)aAa>aCa	p.K794T	PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T|PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000433867.1_Missense_Mutation_p.K794T|DACT3-AS1_ENST00000525008.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	794	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTGTAGCGTTTGCGCATCTT	0.567																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(2380-2382)aAa>aCa		protein kinase D2							98.0	66.0	77.0					19																	47178333		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47178333T>G	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2381A>C	19.37:g.47178333T>G	ENSP00000291281:p.Lys794Thr					PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T|PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000291281.4_Missense_Mutation_p.K794T|DACT3-AS1_ENST00000525008.1_RNA	p.K794T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	18	2858	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	794			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2381A>C	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184267	0.94885	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68479	-0.33;-0.33	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.76414	0.3984	L	0.53780	1.695	0.80722	D	1	D;P;D	0.55800	0.973;0.645;0.965	P;B;P	0.62014	0.837;0.271;0.897	T	0.78994	-0.1984	10	0.87932	D	0	-45.8839	14.6862	0.69052	0.0:0.0:0.0:1.0	.	804;279;794	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	T	794	ENSP00000291281:K794T;ENSP00000393978:K794T	ENSP00000291281:K794T	K	-	2	0	PRKD2	51870173	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.982000	0.88131	2.169000	0.68431	0.533000	0.62120	AAA		0.567	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		8	69	0	0	0	1	0	8	69				
ZC3HAV1	56829	broad.mit.edu	37	7	138738249	138738249	+	Silent	SNP	C	C	T	rs61743965	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138738249C>T	ENST00000242351.5	-	12	2713	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	ZC3HAV1_ENST00000464606.1_Silent_p.S921S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	799	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAAAATTATTCGAACAGATAG	0.398													C|||	8	0.00159744	0.0008	0.0	5008	,	,		20039	0.001		0.006	False		,,,				2504	0.0					ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(2395-2397)tcG>tcA		zinc finger CCCH-type, antiviral 1		C		6,4400	11.4+/-27.6	0,6,2197	135.0	138.0	137.0		2397	-6.7	0.0	7	dbSNP_129	137	54,8546	33.8+/-87.4	0,54,4246	no	coding-synonymous	ZC3HAV1	NM_020119.3		0,60,6443	TT,TC,CC		0.6279,0.1362,0.4613		799/903	138738249	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138738249C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2397G>A	7.37:g.138738249C>T						ZC3HAV1_ENST00000464606.1_Silent_p.S921S	p.S799S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			12	2713	-			799			PARP catalytic.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.2397G>A	CCDS5851.1																																																																																				0.398	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		21	433	0	0	0	1	0	21	433				
SLC4A10	57282	broad.mit.edu	37	2	162833344	162833344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833344C>T	ENST00000446997.1	+	25	3395	c.3302C>T	c.(3301-3303)gCc>gTc	p.A1101V	SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000375514.5_Missense_Mutation_p.A1082V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A1071V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1101					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CTGATTACTGCCGATAACTCA	0.343																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3244-3246)gCc>gTc		solute carrier family 4, sodium bicarbonate transporter, member 10							57.0	53.0	54.0					2																	162833344		1833	4086	5919	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162833344C>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3302C>T	2.37:g.162833344C>T	ENSP00000393066:p.Ala1101Val					SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Missense_Mutation_p.A1101V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A1071V	p.A1082V	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			25	3532	+			1101					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.3245C>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951059	0.53186	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.79554	-1.28;-1.27;-1.27;-1.28	6.03	5.15	0.70609	.	0.288336	0.35291	N	0.003310	T	0.70692	0.3253	N	0.22421	0.69	0.30656	N	0.75494	B;B;B	0.26512	0.053;0.053;0.151	B;B;B	0.28916	0.096;0.096;0.06	T	0.67166	-0.5739	10	0.27785	T	0.31	.	15.1765	0.72916	0.0:0.9327:0.0:0.0673	.	1082;1071;1101	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	V	1082;1071;1071;1070;1101;1100	ENSP00000364664:A1082V;ENSP00000395797:A1071V;ENSP00000272716:A1071V;ENSP00000393066:A1101V	ENSP00000272716:A1071V	A	+	2	0	SLC4A10	162541590	0.997000	0.39634	0.999000	0.59377	0.997000	0.91878	3.943000	0.56621	1.547000	0.49401	0.655000	0.94253	GCC		0.343	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		5	55	0	0	0	1	0	5	55				
RPS6KA5	9252	broad.mit.edu	37	14	91526692	91526692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91526692C>T	ENST00000261991.3	-	1	260	c.87G>A	c.(85-87)aaG>aaA	p.K29K	RPS6KA5_ENST00000536315.2_5'Flank|RPS6KA5_ENST00000418736.2_Silent_p.K29K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	29					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCAGCTCGTGCTTGACAGTGA	0.761																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(85-87)aaG>aaA		ribosomal protein S6 kinase, 90kDa, polypeptide 5							9.0	10.0	9.0					14																	91526692		2151	4181	6332	SO:0001819	synonymous_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91526692C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.87G>A	14.37:g.91526692C>T						RPS6KA5_ENST00000418736.2_Silent_p.K29K	p.K29K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	1	260	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	29					O95316|Q96AF7	Silent	SNP	ENST00000261991.3	37	c.87G>A	CCDS9893.1																																																																																				0.761	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		22	58	0	0	0	1	0	22	58				
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(580-582)Ctg>Atg		symplekin							111.0	92.0	98.0					19																	46351106		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351106G>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.580C>A	19.37:g.46351106G>T	ENSP00000245934:p.Leu194Met						p.L194M	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	7	824	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	194					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.580C>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253472	0.59212	.	.	ENSG00000125755	ENST00000245934	T	0.51325	0.71	5.5	2.29	0.28610	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.57242	0.2040	M	0.63843	1.955	0.41784	D	0.989833	D;P	0.63046	0.992;0.849	D;P	0.65573	0.936;0.811	T	0.52764	-0.8532	10	0.35671	T	0.21	.	7.2308	0.26040	0.335:0.0:0.665:0.0	.	209;194	Q4LE61;Q92797	.;SYMPK_HUMAN	M	194	ENSP00000245934:L194M	ENSP00000245934:L194M	L	-	1	2	SYMPK	51042946	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.346000	0.44027	0.452000	0.26830	0.655000	0.94253	CTG		0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		40	190	1	0	5.04308e-16	1	5.52873e-16	40	190				
IFIT3	3437	broad.mit.edu	37	10	91098786	91098786	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098786A>T	ENST00000371818.4	+	2	554	c.374A>T	c.(373-375)aAg>aTg	p.K125M	IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	125					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAAACCTGCAAGAAATTTTCA	0.428																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(373-375)aAg>aTg		interferon-induced protein with tetratricopeptide repeats 3							59.0	65.0	63.0					10																	91098786		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91098786A>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.374A>T	10.37:g.91098786A>T	ENSP00000360883:p.Lys125Met					LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M	p.K125M	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	554	+			125					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.374A>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379661	0.42207	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.76316	-1.01;-1.01	4.71	2.32	0.28847	Tetratricopeptide-like helical (1);	0.814160	0.11368	N	0.571235	T	0.78792	0.4339	L	0.50333	1.59	0.31164	N	0.703982	P	0.41848	0.763	P	0.51974	0.686	T	0.74691	-0.3580	10	0.59425	D	0.04	-0.1749	6.3659	0.21455	0.7797:0.0:0.0794:0.1409	.	125	O14879	IFIT3_HUMAN	M	125	ENSP00000360883:K125M;ENSP00000360876:K125M	ENSP00000360876:K125M	K	+	2	0	IFIT3	91088766	0.864000	0.29904	0.540000	0.28089	0.336000	0.28762	1.583000	0.36579	0.509000	0.28195	0.528000	0.53228	AAG		0.428	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		74	300	0	0	0	1	0	74	300				
ADAMTS6	11174	broad.mit.edu	37	5	64766794	64766794	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64766794G>T	ENST00000536360.1	-	3	1086	c.273C>A	c.(271-273)gcC>gcA	p.A91A				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	91						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTTGCCATAGGCTGAAAGTT	0.393																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(271-273)gcC>gcA		ADAM metallopeptidase with thrombospondin type 1 motif, 6							115.0	115.0	115.0					5																	64766794		2203	4300	6503	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766794G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.273C>A	5.37:g.64766794G>T							p.A91A			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	3	1086	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	91					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.273C>A																																																																																					0.393	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		79	329	1	0	1.15773e-35	1	1.38295e-35	79	329				
RNF25	64320	broad.mit.edu	37	2	219538400	219538400	+	5'Flank	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219538400G>T	ENST00000295704.2	-	0	0				STK36_ENST00000392105.3_Missense_Mutation_p.R46M|STK36_ENST00000392106.2_Missense_Mutation_p.R46M|STK36_ENST00000295709.3_Missense_Mutation_p.R46M|STK36_ENST00000440309.1_Missense_Mutation_p.R46M	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGAGCTGAGGAATTTGCAA	0.463																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(136-138)aGg>aTg		serine/threonine kinase 36							78.0	76.0	76.0					2																	219538400		2203	4300	6503	SO:0001631	upstream_gene_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219538400G>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219538400G>T	Exception_encountered					STK36_ENST00000392106.2_Missense_Mutation_p.R46M|STK36_ENST00000392105.3_Missense_Mutation_p.R46M|STK36_ENST00000440309.1_Missense_Mutation_p.R46M	p.R46M	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	3	416	+		Renal(207;0.0915)	46			Protein kinase.		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.137G>T	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703019	0.48412	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.72	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.402596	0.21314	N	0.076600	T	0.54367	0.1854	L	0.31578	0.945	0.40073	D	0.976035	B;B	0.25563	0.129;0.081	B;B	0.33042	0.097;0.157	T	0.50709	-0.8796	10	0.62326	D	0.03	-5.5108	7.5168	0.27606	0.4912:0.0:0.5088:0.0	.	46;46	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	M	46	ENSP00000295709:R46M;ENSP00000375955:R46M;ENSP00000375954:R46M;ENSP00000394095:R46M;ENSP00000403527:R46M	ENSP00000295709:R46M	R	+	2	0	STK36	219246644	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.139000	0.31504	0.321000	0.23259	-0.150000	0.13652	AGG		0.463	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		54	169	1	0	1.11015e-26	1	1.28132e-26	54	169				
OR52I1	390037	broad.mit.edu	37	11	4615444	4615444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615444G>A	ENST00000530443.2	+	1	176	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	OR52I1_ENST00000450052.2_Missense_Mutation_p.R83Q	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTCCACTCGGCATGAGCCC	0.512																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(247-249)cGg>cAg		olfactory receptor, family 52, subfamily I, member 1							165.0	142.0	150.0					11																	4615444		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615444G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.176G>A	11.37:g.4615444G>A	ENSP00000436453:p.Arg59Gln					OR52I1_ENST00000530443.2_Missense_Mutation_p.R59Q	p.R83Q			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	248	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	59					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.248G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	g	7.180	0.589398	0.13812	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.02974	4.09;4.09	4.63	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	N	0.002662	T	0.01661	0.0053	N	0.08118	0	0.18873	N	0.999988	B	0.20780	0.048	B	0.12837	0.008	T	0.30851	-0.9964	9	0.87932	D	0	-0.5677	5.7199	0.17980	0.0:0.0885:0.3218:0.5897	.	59	Q8NGK6	O52I1_HUMAN	Q	83;59	ENSP00000409094:R83Q;ENSP00000436453:R59Q	ENSP00000409094:R83Q	R	+	2	0	OR52I1	4572020	0.042000	0.20092	0.689000	0.30133	0.062000	0.15995	0.900000	0.28431	0.022000	0.15160	-2.279000	0.00272	CGG		0.512	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		180	602	0	0	0	1	0	180	602				
ENTPD6	955	broad.mit.edu	37	20	25205943	25205943	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205943A>G	ENST00000376652.4	+	14	1509	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	ENTPD6_ENST00000360031.2_Missense_Mutation_p.K448R|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Silent_p.Q429Q|ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	449					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCAGGAGCAAAGTGCTGAAG	0.607																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1342-1344)aAa>aGa		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							107.0	77.0	87.0					20																	25205943		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25205943A>G	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1346A>G	20.37:g.25205943A>G	ENSP00000365840:p.Lys449Arg					ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R|ENTPD6_ENST00000376652.4_Missense_Mutation_p.K449R|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Silent_p.Q429Q	p.K448R	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			14	1525	+			449					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1343A>G	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.36|13.36	2.213574|2.213574	0.39102|0.39102	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000354989;ENST00000360031;ENST00000376652	T|T;T;T	0.24538|0.11604	1.85|2.76;2.76;2.76	5.76|5.76	4.66|4.66	0.58398|0.58398	.|.	0.146358|0.146358	0.64402|0.64402	D|N	0.000014|0.000014	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.12961|0.12961	0.28|0.28	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.29188	.|0.024;0.02;0.236;0.236	.|B;B;B;B	.|0.34590	.|0.056;0.029;0.186;0.186	T|T	0.36986|0.36986	-0.9725|-0.9725	7|10	.|0.12430	.|T	.|0.62	-13.8871|-13.8871	9.6271|9.6271	0.39757|0.39757	0.9198:0.0:0.0802:0.0|0.9198:0.0:0.0802:0.0	.|.	.|197;432;448;449	.|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.;ENTP6_HUMAN	E|R	308;287|432;448;449	ENSP00000406975:K308E|ENSP00000347084:K432R;ENSP00000353131:K448R;ENSP00000365840:K449R	.|ENSP00000347084:K432R	K|K	+|+	1|2	0|0	ENTPD6|ENTPD6	25153943|25153943	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.741000|0.741000	0.42261|0.42261	3.715000|3.715000	0.54897|0.54897	0.988000|0.988000	0.38734|0.38734	0.460000|0.460000	0.39030|0.39030	AAG|AAA		0.607	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			22	128	0	0	0	1	0	22	128				
BMP1	649	broad.mit.edu	37	8	22020132	22020132	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22020132C>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000318561.3_Missense_Mutation_p.P30S|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.P30S|SFTPC_ENST00000521315.1_Missense_Mutation_p.P30S|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_Missense_Mutation_p.P30S|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCCTGCTGCCCAGTGCACCT	0.612																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(88-90)Cca>Tca		surfactant protein C							131.0	140.0	137.0					8																	22020132		2078	4204	6282	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020132C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020132C>T	Exception_encountered					SFTPC_ENST00000522109.1_Missense_Mutation_p.P30S|SFTPC_ENST00000318561.3_Missense_Mutation_p.P30S|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_Missense_Mutation_p.P30S|SFTPC_ENST00000524255.1_Intron	p.P30S			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	120	+			30					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.88C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403037	0.62288	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000522109;ENST00000518615	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	4.54	4.54	0.55810	Surfactant protein C, N-terminal propeptide (1);	0.000000	0.42420	D	0.000715	D	0.96393	0.8823	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.96590	0.9437	10	0.72032	D	0.01	-24.4444	13.1596	0.59537	0.0:1.0:0.0:0.0	.	30;30;30;30;30	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	S	30	ENSP00000316152:P30S;ENSP00000430410:P30S;ENSP00000407931:P30S;ENSP00000429496:P30S;ENSP00000428817:P30S	ENSP00000316152:P30S	P	+	1	0	SFTPC	22076077	0.991000	0.36638	0.580000	0.28601	0.466000	0.32739	1.409000	0.34680	2.234000	0.73211	0.655000	0.94253	CCA		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		112	519	0	0	0	1	0	112	519				
TMEM55A	55529	broad.mit.edu	37	8	92033488	92033488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92033488G>A	ENST00000285419.3	-	2	565	c.251C>T	c.(250-252)gCt>gTt	p.A84V	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	84						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTTACCGTAGCTTCATTGCA	0.343																																						ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(250-252)gCt>gTt		transmembrane protein 55A							97.0	88.0	91.0					8																	92033488		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92033488G>A	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.251C>T	8.37:g.92033488G>A	ENSP00000285419:p.Ala84Val						p.A84V	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		2	565	-			84					B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.251C>T	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467683	0.96257	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.75363	-0.3344	9	0.54805	T	0.06	-7.6323	19.8946	0.96949	0.0:0.0:1.0:0.0	.	84	Q8N4L2	TM55A_HUMAN	V	84;90	.	ENSP00000285419:A84V	A	-	2	0	TMEM55A	92102664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	GCT		0.343	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		65	271	0	0	0	1	0	65	271				
SKI	6497	broad.mit.edu	37	1	2160432	2160432	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160432T>C	ENST00000378536.4	+	1	299	c.227T>C	c.(226-228)cTg>cCg	p.L76P		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	76					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GTGCTGCACCTGCCCGCCATC	0.761																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(226-228)cTg>cCg		v-ski avian sarcoma viral oncogene homolog							4.0	4.0	4.0					1																	2160432		1917	3938	5855	SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160432T>C	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.227T>C	1.37:g.2160432T>C	ENSP00000367797:p.Leu76Pro						p.L76P	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	299	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		76					Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	c.227T>C	CCDS39.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685220	0.47991	.	.	ENSG00000157933	ENST00000378536	D	0.96136	-3.92	2.61	2.61	0.31194	.	0.437967	0.20248	U	0.096156	D	0.92770	0.7701	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.91623	0.5312	10	0.52906	T	0.07	-7.6158	9.7448	0.40440	0.0:0.0:0.0:1.0	.	76	P12755	SKI_HUMAN	P	76	ENSP00000367797:L76P	ENSP00000367797:L76P	L	+	2	0	SKI	2150292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.193000	0.50997	1.060000	0.40578	0.323000	0.21402	CTG		0.761	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		7	40	0	0	0	1	0	7	40				
RASAL2	9462	broad.mit.edu	37	1	178442279	178442279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442279C>T	ENST00000462775.1	+	16	3450	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W	RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W|RASAL2_ENST00000448150.3_Missense_Mutation_p.R1239W	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1109					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGTGAAGGAGCGGTACAGCAT	0.537																																						ENST00000448150.3																			3	Substitution - Missense(3)	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)	lung(3)	biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3715-3717)Cgg>Tgg		RAS protein activator like 2							180.0	152.0	161.0					1																	178442279		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178442279C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3325C>T	1.37:g.178442279C>T	ENSP00000420558:p.Arg1109Trp					RASAL2_ENST00000462775.1_Missense_Mutation_p.R1109W|RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W	p.R1239W	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			18	4533	+			1109					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.3715C>T	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755894|4.755894	0.89843|0.89843	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000367647|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46092|0.46092	0.1375|0.1375	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.919	.|D;B	.|0.91635	.|0.999;0.27	T|T	0.37865|0.37865	-0.9687|-0.9687	6|10	0.87932|0.87932	D|D	0|0	.|.	19.635|19.635	0.95728|0.95728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1109;1250	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|W	62|1239;1250;1109	.|ENSP00000407768:R1239W;ENSP00000356621:R1250W;ENSP00000420558:R1109W	ENSP00000356619:A62V|ENSP00000356621:R1250W	A|R	+|+	2|1	0|2	RASAL2|RASAL2	176708902|176708902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.711000|7.711000	0.84669|0.84669	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.537	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		81	432	0	0	0	1	0	81	432				
NFATC1	4772	broad.mit.edu	37	18	77171438	77171438	+	Missense_Mutation	SNP	C	C	T	rs199736877		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171438C>T	ENST00000427363.2	+	2	1163	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A388V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	388					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CAGTACCTGGCGGTGCCGCAG	0.706													C|||	1	0.000199681	0.0008	0.0	5008	,	,		5682	0.0		0.0	False		,,,				2504	0.0				GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1162-1164)gCg>gTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1		C	VAL/ALA,VAL/ALA,,VAL/ALA,VAL/ALA	0,4378		0,0,2189	13.0	15.0	14.0		1163,1124,,1124,1163	4.8	0.7	18		14	1,8539		0,1,4269	no	missense,missense,intron,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	64,64,,64,64	0,1,6458	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,,benign,benign	388/826,375/931,,375/813,388/717	77171438	1,12917	2189	4270	6459	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171438C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1163C>T	18.37:g.77171438C>T	ENSP00000389377:p.Ala388Val					NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A388V	p.A388V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1532	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	388					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1163C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.93	1.489050	0.26686	0.0	1.17E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.14640	2.89;2.49;2.72	4.81	4.81	0.61882	.	0.320352	0.33364	N	0.004996	T	0.06826	0.0174	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P;P;P	0.39782	0.688;0.688;0.688;0.477;0.477;0.624;0.688	B;B;B;B;B;B;B	0.27500	0.08;0.08;0.05;0.08;0.08;0.067;0.05	T	0.33240	-0.9876	10	0.08179	T	0.78	-15.3254	18.0734	0.89419	0.0:1.0:0.0:0.0	.	375;375;388;388;388;375;388	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	388;388;388;375;375;352	ENSP00000253506:A388V;ENSP00000442435:A388V;ENSP00000327850:A375V	ENSP00000253506:A388V	A	+	2	0	NFATC1	75272426	1.000000	0.71417	0.716000	0.30569	0.700000	0.40528	4.620000	0.61226	2.497000	0.84241	0.591000	0.81541	GCG		0.706	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		34	120	0	0	0	1	0	34	120				
ZBTB38	253461	broad.mit.edu	37	3	141163596	141163596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163596C>T	ENST00000514251.1	+	4	2645	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGAGAAATACCGGAGGAGTCA	0.428																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2365-2367)cCg>cTg		zinc finger and BTB domain containing 38							55.0	53.0	54.0					3																	141163596		1861	4103	5964	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163596C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2366C>T	3.37:g.141163596C>T	ENSP00000426387:p.Pro789Leu					ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L	p.P789L			Q8NAP3	ZBT38_HUMAN			4	2645	+			789						Missense_Mutation	SNP	ENST00000514251.1	37	c.2366C>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.027271	0.02045	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08370	3.1;3.1;3.1	5.33	3.29	0.37713	.	1.066810	0.07311	N	0.875850	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40040	-0.9584	9	.	.	.	-0.1081	8.7571	0.34652	0.0:0.7163:0.0:0.2837	.	790;789	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	789;789;790	ENSP00000426387:P789L;ENSP00000406955:P789L;ENSP00000372635:P790L	.	P	+	2	0	ZBTB38	142646286	0.006000	0.16342	0.265000	0.24526	0.304000	0.27724	1.585000	0.36600	1.255000	0.44051	-0.143000	0.13931	CCG		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			42	169	0	0	0	1	0	42	169				
RASA3	22821	broad.mit.edu	37	13	114795310	114795310	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114795310G>A	ENST00000334062.7	-	5	547	c.426C>T	c.(424-426)gtC>gtT	p.V142V	RASA3_ENST00000542651.1_Missense_Mutation_p.R111C|RASA3_ENST00000389544.4_Silent_p.V110V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	142	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGTGGCAGACGACCCCAGTGT	0.622																																						ENST00000542651.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(331-333)Cgt>Tgt		RAS p21 protein activator 3							120.0	71.0	88.0					13																	114795310		2200	4297	6497	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114795310G>A		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.426C>T	13.37:g.114795310G>A						RASA3_ENST00000334062.7_Silent_p.V142V|RASA3_ENST00000389544.4_Silent_p.V110V	p.R111C			Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		4	393	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	0					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.331C>T	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275872	0.40294	.	.	ENSG00000185989	ENST00000542651	T	0.18810	2.19	4.5	-1.6	0.08426	.	.	.	.	.	T	0.13927	0.0337	.	.	.	0.27189	N	0.960467	.	.	.	.	.	.	T	0.34153	-0.9840	5	.	.	.	.	5.8744	0.18820	0.4508:0.0:0.427:0.1222	.	.	.	.	C	111	ENSP00000439008:R111C	.	R	-	1	0	RASA3	113813412	0.459000	0.25768	0.061000	0.19648	0.857000	0.48899	0.095000	0.15127	-0.728000	0.04882	-0.221000	0.12465	CGT		0.622	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		5	35	0	0	0	1	0	5	35				
HPS4	89781	broad.mit.edu	37	22	26860621	26860621	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26860621G>A	ENST00000398145.2	-	11	1591	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HPS4_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000398141.1_Silent_p.N338N|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Silent_p.N320N	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	325					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ACAAGCATCCGTTCTCCTTCC	0.597									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(973-975)aaC>aaT		Hermansky-Pudlak syndrome 4							95.0	87.0	90.0					22																	26860621		2203	4300	6503	SO:0001819	synonymous_variant	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860621G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.975C>T	22.37:g.26860621G>A						HPS4_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000402105.3_Silent_p.N320N|HPS4_ENST00000398141.1_Silent_p.N338N	p.N325N	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	1591	-			325					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	c.975C>T	CCDS13835.1																																																																																				0.597	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		85	379	0	0	0	1	0	85	379				
FOXP2	93986	broad.mit.edu	37	7	114282577	114282577	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114282577C>A	ENST00000393494.2	+	7	1167	c.888C>A	c.(886-888)tcC>tcA	p.S296S	FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000393500.3_Silent_p.S221S|FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000390668.3_Silent_p.S320S			O15409	FOXP2_HUMAN	forkhead box P2	296				DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439). {ECO:0000305}.	camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTAACAATTCCTCCTCGACTA	0.443																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(661-663)tcC>tcA		forkhead box P2							241.0	209.0	220.0					7																	114282577		2203	4300	6503	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114282577C>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.888C>A	7.37:g.114282577C>A						FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000393494.2_Silent_p.S296S|FOXP2_ENST00000390668.3_Silent_p.S320S	p.S221S			O15409	FOXP2_HUMAN			13	1483	+			296			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.663C>A	CCDS5760.1																																																																																				0.443	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		51	434	1	0	1.51926e-22	1	1.72e-22	51	434				
HELZ2	85441	broad.mit.edu	37	20	62194310	62194310	+	Silent	SNP	G	G	A	rs201232331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62194310G>A	ENST00000467148.1	-	8	5934	c.5865C>T	c.(5863-5865)acC>acT	p.T1955T	HELZ2_ENST00000427522.2_Silent_p.T1386T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1955					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAACCGCGCCGGTGGCCGACT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16832	0.001		0.0	False		,,,				2504	0.0					ENST00000467148.1																			0											c.(5863-5865)acC>acT		helicase with zinc finger 2, transcriptional coactivator							13.0	11.0	11.0					20																	62194310		2148	4262	6410	SO:0001819	synonymous_variant	85441							g.chr20:62194310G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5865C>T	20.37:g.62194310G>A						HELZ2_ENST00000427522.2_Silent_p.T1386T	p.T1955T	NM_001037335.2	NP_001032412.2					8	5934	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.5865C>T	CCDS33508.1																																																																																				0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		14	44	0	0	0	1	0	14	44				
MSANTD3	91283	broad.mit.edu	37	9	103212948	103212948	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103212948A>C	ENST00000395067.2	+	3	799	c.528A>C	c.(526-528)agA>agC	p.R176S	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron|TMEFF1_ENST00000334943.6_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	176										endometrium(2)|lung(2)	4						CAGCTGTCAGAATAACAGCCA	0.413																																						ENST00000395067.2																			0				endometrium(2)|lung(2)	4						c.(526-528)agA>agC		Myb/SANT-like DNA-binding domain containing 3							58.0	55.0	56.0					9																	103212948		2203	4300	6503	SO:0001583	missense	91283							g.chr9:103212948A>C	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.528A>C	9.37:g.103212948A>C	ENSP00000378506:p.Arg176Ser					MSANTD3-TMEFF1_ENST00000502978.1_Intron|TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3_ENST00000489377.1_3'UTR	p.R176S	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1					3	799	+								B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.528A>C	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.239398	0.39598	.	.	ENSG00000066697	ENST00000395067;ENST00000374886	.	.	.	5.55	1.78	0.24846	.	.	.	.	.	T	0.25938	0.0632	N	0.22421	0.69	0.80722	D	1	P	0.41232	0.743	B	0.26094	0.066	T	0.06625	-1.0816	8	0.87932	D	0	-6.9505	9.221	0.37377	0.7846:0.0:0.2154:0.0	.	176	Q96H12	CI030_HUMAN	S	176	.	ENSP00000364021:R176S	R	+	3	2	C9orf30	102252769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.139000	0.42149	0.374000	0.24650	0.383000	0.25322	AGA		0.413	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		38	170	0	0	0	1	0	38	170				
MYH10	4628	broad.mit.edu	37	17	8390805	8390805	+	Silent	SNP	G	G	A	rs375050384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8390805G>A	ENST00000269243.4	-	34	5037	c.4899C>T	c.(4897-4899)atC>atT	p.I1633I	MYH10_ENST00000379980.4_Silent_p.I1649I|MYH10_ENST00000360416.3_Silent_p.I1664I|MYH10_ENST00000396239.1_Silent_p.I1654I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1633					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCGCAGCCTCGATTTGGGCTT	0.552																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4990-4992)atC>atT		myosin, heavy chain 10, non-muscle		G		1,4405	2.1+/-5.4	0,1,2202	254.0	232.0	239.0		4899	-10.1	0.1	17		239	0,8600		0,0,4300	no	coding-synonymous	MYH10	NM_005964.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1633/1977	8390805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8390805G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4899C>T	17.37:g.8390805G>A						MYH10_ENST00000269243.4_Silent_p.I1633I|MYH10_ENST00000396239.1_Silent_p.I1654I|MYH10_ENST00000379980.4_Silent_p.I1649I	p.I1664I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			36	5130	-			1633					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.4992C>T	CCDS11144.1																																																																																				0.552	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			263	1053	0	0	0	1	0	263	1053				
MPO	4353	broad.mit.edu	37	17	56355451	56355451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56355451C>T	ENST00000225275.3	-	7	1117	c.941G>A	c.(940-942)cGc>cAc	p.R314H	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.R346H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	314					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CGGGCAGGAGCGGAAGAACGG	0.622																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1036-1038)cGc>cAc		myeloperoxidase	Cefdinir(DB00535)						96.0	88.0	91.0					17																	56355451		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355451C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.941G>A	17.37:g.56355451C>T	ENSP00000225275:p.Arg314His					MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.R314H	p.R346H			P05164	PERM_HUMAN			6	1213	-			314					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1037G>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382585	0.95967	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	H	0.98559	4.265	0.80722	D	1	D	0.55800	0.973	P	0.48089	0.566	D	0.95837	0.8863	10	0.87932	D	0	-24.6902	18.0012	0.89198	0.0:1.0:0.0:0.0	.	314	P05164	PERM_HUMAN	H	346;314	ENSP00000344419:R346H;ENSP00000225275:R314H	ENSP00000225275:R314H	R	-	2	0	MPO	53710450	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.046000	0.71029	2.518000	0.84900	0.561000	0.74099	CGC		0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			101	477	0	0	0	1	0	101	477				
HCFC1	3054	broad.mit.edu	37	X	153219959	153219959	+	Silent	SNP	G	G	A	rs368228709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153219959G>A	ENST00000310441.7	-	17	4857	c.3891C>T	c.(3889-3891)caC>caT	p.H1297H	HCFC1_ENST00000354233.3_Silent_p.H1228H|HCFC1_ENST00000369984.4_Silent_p.H1297H	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1297					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTGTCTCGTGGGTCTCAC	0.662																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3889-3891)caC>caT		host cell factor C1 (VP16-accessory protein)		G		1,3771		0,0,1,1601,569	99.0	112.0	108.0		3891	-2.2	1.0	X		108	0,6616		0,0,0,2397,1822	no	coding-synonymous	HCFC1	NM_005334.2		0,0,1,3998,2391	AA,AG,A,GG,G		0.0,0.0265,0.0096		1297/2036	153219959	1,10387	2171	4219	6390	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153219959G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3891C>T	X.37:g.153219959G>A						HCFC1_ENST00000369984.4_Silent_p.H1297H|HCFC1_ENST00000354233.3_Silent_p.H1228H	p.H1297H	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			17	4857	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1297					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.3891C>T	CCDS44020.1																																																																																				0.662	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		231	781	0	0	0	1	0	231	781				
RAP1GAP2	23108	broad.mit.edu	37	17	2898752	2898752	+	Missense_Mutation	SNP	G	G	A	rs376964895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2898752G>A	ENST00000254695.8	+	13	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	346	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACGGAGACGCCCAGCAGGT	0.607																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1036-1038)Gcc>Acc		RAP1 GTPase activating protein 2		G	THR/ALA,THR/ALA	1,4331	2.1+/-5.4	0,1,2165	61.0	63.0	62.0		991,1036	1.3	1.0	17		62	0,8584		0,0,4292	no	missense,missense	RAP1GAP2	NM_001100398.1,NM_015085.4	58,58	0,1,6457	AA,AG,GG		0.0,0.0231,0.0077	benign,benign	331/716,346/731	2898752	1,12915	2166	4292	6458	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2898752G>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1036G>A	17.37:g.2898752G>A	ENSP00000254695:p.Ala346Thr					RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T	p.A346T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			13	1126	+			346			Rap-GAP.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.1036G>A	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869383	0.32977	2.31E-4	0.0	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.72	1.34	0.21922	Rap/ran-GAP (2);	0.529823	0.23081	N	0.052147	D	0.83450	0.5257	N	0.05608	-0.01	0.30925	N	0.727525	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.72972	-0.4129	10	0.13853	T	0.58	-16.4671	7.4483	0.27223	0.6114:0.0:0.3886:0.0	.	331;346	Q684P5-2;Q684P5	.;RPGP2_HUMAN	T	346;331;327;346	ENSP00000254695:A346T;ENSP00000389824:A331T;ENSP00000439688:A327T;ENSP00000444890:A346T	ENSP00000254695:A346T	A	+	1	0	RAP1GAP2	2845502	0.021000	0.18746	0.984000	0.44739	0.997000	0.91878	1.245000	0.32790	0.271000	0.22005	0.655000	0.94253	GCC		0.607	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			64	307	0	0	0	1	0	64	307				
MYH8	4626	broad.mit.edu	37	17	10323446	10323446	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10323446C>T	ENST00000403437.2	-	3	193	c.99G>A	c.(97-99)ccG>ccA	p.P33P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	33					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGCATCAAACGGCTTGTTTT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(97-99)ccG>ccA		myosin, heavy chain 8, skeletal muscle, perinatal							229.0	218.0	222.0					17																	10323446		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10323446C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.99G>A	17.37:g.10323446C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.P33P	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			3	193	-			33			Myosin head-like.		Q14910	Silent	SNP	ENST00000403437.2	37	c.99G>A	CCDS11153.1																																																																																				0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		188	711	0	0	0	1	0	188	711				
SAMD3	154075	broad.mit.edu	37	6	130497140	130497140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130497140C>T	ENST00000368134.2	-	10	1276	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000532763.1_Missense_Mutation_p.R221Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	223										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTGAGGGCTCGTTTCCATAA	0.348																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(661-663)cGa>cAa		sterile alpha motif domain containing 3							85.0	84.0	85.0					6																	130497140		2203	4299	6502	SO:0001583	missense	154075							g.chr6:130497140C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.668G>A	6.37:g.130497140C>T	ENSP00000357116:p.Arg223Gln					SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R223Q	p.R221Q			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	791	-			223					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.662G>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020104	0.93462	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.46819	1.0;0.99;1.0;1.0;0.86	5.69	5.69	0.88448	.	0.000000	0.52532	D	0.000073	T	0.54481	0.1861	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40813	-0.9543	10	0.19147	T	0.46	.	17.9821	0.89145	0.0:1.0:0.0:0.0	.	223	Q8N6K7	SAMD3_HUMAN	Q	223;247;223;223;221	ENSP00000357116:R223Q;ENSP00000402092:R247Q;ENSP00000403565:R223Q;ENSP00000391163:R223Q;ENSP00000436088:R221Q	ENSP00000357116:R223Q	R	-	2	0	SAMD3	130538833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.019000	0.64060	2.677000	0.91161	0.655000	0.94253	CGA		0.348	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		62	266	0	0	0	1	0	62	266				
YIF1A	10897	broad.mit.edu	37	11	66052203	66052203	+	Missense_Mutation	SNP	C	C	T	rs144345497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66052203C>T	ENST00000376901.4	-	8	971	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	YIF1A_ENST00000471387.2_Silent_p.P149P|YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000526497.1_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	263					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGCCGGGGGACGGGGCCCCCC	0.652																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(787-789)Gtc>Atc		Yip1 interacting factor homolog A (S. cerevisiae)		C	ILE/VAL	1,4383		0,1,2191	17.0	22.0	20.0		787	3.7	0.0	11	dbSNP_134	20	0,8550		0,0,4275	no	missense	YIF1A	NM_020470.2	29	0,1,6466	TT,TC,CC		0.0,0.0228,0.0077	benign	263/294	66052203	1,12933	2192	4275	6467	SO:0001583	missense	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66052203C>T	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.787G>A	11.37:g.66052203C>T	ENSP00000366098:p.Val263Ile					YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|YIF1A_ENST00000471387.2_Silent_p.P149P|YIF1A_ENST00000526497.1_5'UTR|CNIH2_ENST00000530519.1_Intron	p.V263I	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			8	971	-			263					A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	ENST00000376901.4	37	c.787G>A	CCDS8132.1	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457601	0.12342	2.28E-4	0.0	ENSG00000174851	ENST00000496746;ENST00000359461;ENST00000376901;ENST00000376904	T;T	0.43688	0.94;0.94	5.66	3.72	0.42706	.	0.739902	0.13028	N	0.419526	T	0.22475	0.0542	N	0.03608	-0.345	0.09310	N	1	B	0.18610	0.029	B	0.26202	0.067	T	0.26018	-1.0115	10	0.30078	T	0.28	-9.9507	10.6611	0.45702	0.0:0.7933:0.1328:0.074	.	263	O95070	YIF1A_HUMAN	I	49;211;263;267	ENSP00000352437:V211I;ENSP00000366098:V263I	ENSP00000352437:V211I	V	-	1	0	YIF1A	65808779	0.005000	0.15991	0.001000	0.08648	0.073000	0.16967	1.543000	0.36147	0.700000	0.31782	0.561000	0.74099	GTC		0.652	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		50	182	0	0	0	1	0	50	182				
KCNE1	3753	broad.mit.edu	37	21	35821672	35821672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35821672C>T	ENST00000337385.3	-	3	636	c.261G>A	c.(259-261)tgG>tgA	p.W87*	KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	87			W -> R (in LQT5). {ECO:0000269|PubMed:10400998}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CCTTCTCTTGCCAGGCATCGG	0.552																																						ENST00000337385.3																			0				large_intestine(4)|lung(1)|ovary(2)	7						c.(259-261)tgG>tgA		potassium voltage-gated channel, Isk-related family, member 1	Indapamide(DB00808)						96.0	95.0	96.0					21																	35821672		2203	4300	6503	SO:0001587	stop_gained	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821672C>T	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.261G>A	21.37:g.35821672C>T	ENSP00000337255:p.Trp87*					KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*	p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN			3	636	-			87		W -> R (in LQT5).			A5H1P2|Q8N709|Q91Z94	Nonsense_Mutation	SNP	ENST00000337385.3	37	c.261G>A	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735347	0.89482	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2752	18.2469	0.89989	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000337255:W87X	W	-	3	0	KCNE1	34743542	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.189000	0.72051	2.398000	0.81561	0.591000	0.81541	TGG		0.552	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			92	321	0	0	0	1	0	92	321				
KIRREL	55243	broad.mit.edu	37	1	158064849	158064849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158064849A>G	ENST00000359209.6	+	15	2280	c.2213A>G	c.(2212-2214)tAc>tGc	p.Y738C	KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000368172.1_Missense_Mutation_p.Y552C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	738					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGATTCTCCTACACCTCCCAG	0.652																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1654-1656)tAc>tGc		kin of IRRE like (Drosophila)							46.0	41.0	43.0					1																	158064849		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064849A>G	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2213A>G	1.37:g.158064849A>G	ENSP00000352138:p.Tyr738Cys					KIRREL_ENST00000359209.6_Missense_Mutation_p.Y738C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C|KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C	p.Y552C			Q96J84	KIRR1_HUMAN			11	1667	+	all_hematologic(112;0.0378)		738					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1655A>G	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111895	0.77210	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;D;D;D;D;T	0.86497	-1.15;-2.13;-1.55;-1.74;-1.68;-1.37	5.0	5.0	0.66597	.	0.000000	0.39274	N	0.001417	D	0.85890	0.5802	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	D	0.87188	0.2232	10	0.45353	T	0.12	-20.5602	12.6627	0.56824	1.0:0.0:0.0:0.0	.	638;574;552;738	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	574;754;635;738;638;552	ENSP00000353202:Y574C;ENSP00000357155:Y754C;ENSP00000376098:Y635C;ENSP00000352138:Y738C;ENSP00000389674:Y638C;ENSP00000357154:Y552C	ENSP00000352138:Y738C	Y	+	2	0	KIRREL	156331473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.605000	0.90883	1.881000	0.54492	0.459000	0.35465	TAC		0.652	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		41	123	0	0	0	1	0	41	123				
CPNE5	57699	broad.mit.edu	37	6	36710162	36710162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36710162C>T	ENST00000244751.2	-	21	2289	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.V263V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	555						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCATGTAGGACACCAGTTGGT	0.687																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1663-1665)gtG>gtA		copine V							120.0	102.0	108.0					6																	36710162		2203	4300	6503	SO:0001819	synonymous_variant	57699							g.chr6:36710162C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1665G>A	6.37:g.36710162C>T						CPNE5_ENST00000393189.2_Silent_p.V263V|CPNE5_ENST00000459703.1_5'UTR	p.V555V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			21	2289	-			555					Q7Z6C8	Silent	SNP	ENST00000244751.2	37	c.1665G>A	CCDS4825.1																																																																																				0.687	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		23	633	0	0	0	1	0	23	633				
NYNRIN	57523	broad.mit.edu	37	14	24880593	24880593	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24880593A>C	ENST00000382554.3	+	6	2897	c.2579A>C	c.(2578-2580)aAg>aCg	p.K860T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	860					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CACTCGCTCAAGATGCTTTCA	0.552											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2578-2580)aAg>aCg		NYN domain and retroviral integrase containing							204.0	201.0	202.0					14																	24880593		2001	4171	6172	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880593A>C	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2579A>C	14.37:g.24880593A>C	ENSP00000371994:p.Lys860Thr		OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.K860T	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			6	2897	+			860					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2579A>C	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150699	0.78001	.	.	ENSG00000205978	ENST00000382554	T	0.44083	0.93	5.02	-0.0439	0.13857	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.44603	0.1301	L	0.36672	1.1	0.25084	N	0.9909	D	0.54601	0.967	P	0.58620	0.842	T	0.33445	-0.9868	9	0.87932	D	0	.	7.177	0.25751	0.5853:0.0:0.4147:0.0	.	860	Q9P2P1	NYNRI_HUMAN	T	860	ENSP00000371994:K860T	ENSP00000371994:K860T	K	+	2	0	NYNRIN	23950433	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.414000	0.52693	0.069000	0.16605	0.383000	0.25322	AAG		0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			213	882	0	0	0	1	0	213	882				
XKR6	286046	broad.mit.edu	37	8	10756176	10756176	+	Silent	SNP	G	G	A	rs139763869	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10756176G>A	ENST00000416569.2	-	3	1238	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	XKR6_ENST00000304437.2_Silent_p.G125G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	404						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTCTGTTCCGCCATGGATGA	0.507													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20851	0.001		0.0	False		,,,				2504	0.0					ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1210-1212)ggC>ggT		XK, Kell blood group complex subunit-related family, member 6							94.0	87.0	89.0					8																	10756176		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10756176G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1212C>T	8.37:g.10756176G>A						XKR6_ENST00000304437.2_Silent_p.G125G	p.G404G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1238	-			404					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1212C>T	CCDS5978.2	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	3.745	-0.052838	0.07362	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.27	1.98	0.26296	.	.	.	.	.	T	0.57740	0.2074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51787	-0.8661	4	.	.	.	-0.0538	8.8542	0.35219	0.3603:0.0:0.6397:0.0	.	.	.	.	V	181	.	.	A	-	2	0	XKR6	10793586	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.370000	0.20433	0.590000	0.29694	0.561000	0.74099	GCG		0.507	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		42	147	0	0	0	1	0	42	147				
VIPR2	7434	broad.mit.edu	37	7	158835849	158835849	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158835849C>T	ENST00000262178.2	-	6	659	c.474G>A	c.(472-474)agG>agA	p.R158R	VIPR2_ENST00000402066.1_Silent_p.R299R|VIPR2_ENST00000377633.3_Silent_p.R142R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	158					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGATGTAATTCCTGGTGCAGT	0.557																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(472-474)agG>agA		vasoactive intestinal peptide receptor 2							113.0	98.0	103.0					7																	158835849		2203	4300	6503	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158835849C>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.474G>A	7.37:g.158835849C>T						VIPR2_ENST00000402066.1_Silent_p.R299R|VIPR2_ENST00000377633.3_Silent_p.R142R	p.R158R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	6	659	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	158					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.474G>A	CCDS5950.1																																																																																				0.557	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		31	137	0	0	0	1	0	31	137				
CBX1	10951	broad.mit.edu	37	17	46153428	46153428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46153428G>A	ENST00000393408.3	-	3	733	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	CBX1_ENST00000225603.4_Missense_Mutation_p.R85C|CBX1_ENST00000495350.1_Missense_Mutation_p.R85C	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	85					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TCAGCTTTGCGCTTGCCTCCC	0.443																																					NSCLC(136;694 2497 38792 39034)	ENST00000393408.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						c.(253-255)Cgc>Tgc		chromobox homolog 1							88.0	73.0	78.0					17																	46153428		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46153428G>A	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.253C>T	17.37:g.46153428G>A	ENSP00000377060:p.Arg85Cys					CBX1_ENST00000495350.1_Missense_Mutation_p.R85C|CBX1_ENST00000225603.4_Missense_Mutation_p.R85C	p.R85C	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN			3	733	-			85					P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.253C>T	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383460	0.61845	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	5.85	0.93711	.	0.154565	0.39615	U	0.001312	T	0.59487	0.2197	L	0.47716	1.5	0.80722	D	1	B	0.18610	0.029	B	0.06405	0.002	T	0.55623	-0.8112	9	0.66056	D	0.02	-6.0528	18.9246	0.92540	0.0:0.0:1.0:0.0	.	85	P83916	CBX1_HUMAN	C	85	.	ENSP00000225603:R85C	R	-	1	0	CBX1	43508427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.032000	0.57274	2.767000	0.95098	0.655000	0.94253	CGC		0.443	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		44	154	0	0	0	1	0	44	154				
HECTD1	25831	broad.mit.edu	37	14	31641142	31641142	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31641142A>G	ENST00000399332.1	-	8	1745	c.1257T>C	c.(1255-1257)ggT>ggC	p.G419G	HECTD1_ENST00000553700.1_Silent_p.G419G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	419					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TAACATCTGCACCTCTCTCAC	0.303																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(1255-1257)ggT>ggC		HECT domain containing E3 ubiquitin protein ligase 1							98.0	91.0	93.0					14																	31641142		1829	4086	5915	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31641142A>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1257T>C	14.37:g.31641142A>G						HECTD1_ENST00000553700.1_Silent_p.G419G	p.G419G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	8	1745	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		419					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.1257T>C	CCDS41939.1																																																																																				0.303	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			38	178	0	0	0	1	0	38	178				
NKAIN3	286183	broad.mit.edu	37	8	63659620	63659620	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63659620G>A	ENST00000523211.1	+	4	535	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GTACGTCTCTGTCACAGGCTG	0.493																																						ENST00000523211.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.(403-405)Gtc>Atc		Na+/K+ transporting ATPase interacting 3							124.0	125.0	125.0					8																	63659620		2082	4217	6299	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63659620G>A	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.403G>A	8.37:g.63659620G>A	ENSP00000429073:p.Val135Ile					NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I|NKAIN3_ENST00000519049.1_3'UTR	p.V135I	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			4	535	+	Breast(64;0.127)	Lung NSC(129;0.187)	135						Missense_Mutation	SNP	ENST00000523211.1	37	c.403G>A	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309719	0.60414	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.15256	2.44;2.44	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.20618	0.0496	L	0.55103	1.725	0.44395	D	0.997307	P	0.39443	0.674	B	0.36418	0.224	T	0.01390	-1.1367	10	0.46703	T	0.11	-20.8503	18.3654	0.90389	0.0:0.0:1.0:0.0	.	135	Q8N8D7	NKAI3_HUMAN	I	135	ENSP00000429073:V135I;ENSP00000333627:V135I	ENSP00000333627:V135I	V	+	1	0	NKAIN3	63822174	1.000000	0.71417	0.954000	0.39281	0.744000	0.42396	6.307000	0.72815	2.583000	0.87209	0.650000	0.86243	GTC		0.493	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		26	131	0	0	0	1	0	26	131				
RHD	6007	broad.mit.edu	37	1	25655516	25655516	+	3'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25655516C>T	ENST00000328664.4	+	0	1510				RHD_ENST00000454452.2_3'UTR|RHD_ENST00000568195.1_Silent_p.V427V|RHD_ENST00000417538.2_3'UTR|RHD_ENST00000423810.2_3'UTR|RHD_ENST00000357542.4_3'UTR|RHD_ENST00000342055.5_Silent_p.V457V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen							integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAGCAAAGTCTCCAATGTTC	0.438																																						ENST00000342055.5																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(1369-1371)gtC>gtT		Rh blood group, D antigen																																				SO:0001624	3_prime_UTR_variant	6007					integral to plasma membrane		g.chr1:25655516C>T	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.*101C>T	1.37:g.25655516C>T						RHD_ENST00000417538.2_3'UTR|RHD_ENST00000423810.2_3'UTR|RHD_ENST00000568195.1_Silent_p.V427V|RHD_ENST00000328664.4_3'UTR|RHD_ENST00000454452.2_3'UTR|RHD_ENST00000357542.4_3'UTR	p.V457V			Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	9	1371	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	0					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	37	c.1371C>T	CCDS262.1																																																																																				0.438	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		40	152	0	0	0	1	0	40	152				
SELP	6403	broad.mit.edu	37	1	169588378	169588378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169588378G>A	ENST00000263686.6	-	2	120	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SELP_ENST00000367792.2_Missense_Mutation_p.A28V|SELP_ENST00000367791.2_Missense_Mutation_p.A28V|SELP_ENST00000367794.2_Missense_Mutation_p.A28V|SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V|SELP_ENST00000458599.2_Missense_Mutation_p.A28V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	28					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AGAGATCAGGGCACTGAAGCA	0.418																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(82-84)gCc>gTc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						91.0	88.0	89.0					1																	169588378		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169588378G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.83C>T	1.37:g.169588378G>A	ENSP00000263686:p.Ala28Val					SELP_ENST00000458599.2_Missense_Mutation_p.A28V|SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V|SELP_ENST00000367794.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367792.2_Missense_Mutation_p.A28V|SELP_ENST00000367791.2_Missense_Mutation_p.A28V	p.A28V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			2	120	-	all_hematologic(923;0.208)		28					Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.83C>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	7.562	0.664991	0.14710	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.25912	2.27;2.09;1.81;1.77;1.98;2.09;1.81	4.73	-1.6	0.08426	.	0.585628	0.15169	N	0.276744	T	0.05364	0.0142	L	0.37561	1.115	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.11329	0.006;0.006	T	0.43861	-0.9365	10	0.17369	T	0.5	-2.8872	8.7545	0.34637	0.486:0.0:0.514:0.0	.	28;28	Q6NUL9;P16109	.;LYAM3_HUMAN	V	28;28;27;28;28;28;28;28;28;28;28;28;13	ENSP00000263686:A28V;ENSP00000356767:A28V;ENSP00000356768:A28V;ENSP00000356766:A28V;ENSP00000356765:A28V;ENSP00000356762:A28V;ENSP00000356760:A28V	ENSP00000263686:A28V	A	-	2	0	SELP	167855002	0.000000	0.05858	0.005000	0.12908	0.896000	0.52359	-1.463000	0.02361	-0.404000	0.07610	0.561000	0.74099	GCC		0.418	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		25	165	0	0	0	1	0	25	165				
MKNK2	2872	broad.mit.edu	37	19	2043157	2043157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2043157G>A	ENST00000591601.1	-	6	494	c.459C>T	c.(457-459)gaC>gaT	p.D153D	MKNK2_ENST00000250896.3_Silent_p.D153D|MKNK2_ENST00000541165.1_Silent_p.D22D|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.D153D			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTAGAAGCGGTCCTCCTCCT	0.627																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(457-459)gaC>gaT		MAP kinase interacting serine/threonine kinase 2							145.0	144.0	145.0					19																	2043157		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2043157G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.459C>T	19.37:g.2043157G>A						MKNK2_ENST00000591601.1_Silent_p.D153D|MKNK2_ENST00000309340.7_Silent_p.D153D|MKNK2_ENST00000541165.1_Silent_p.D22D	p.D153D	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	703	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	153			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.459C>T	CCDS12080.1																																																																																				0.627	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		197	902	0	0	0	1	0	197	902				
SAP130	79595	broad.mit.edu	37	2	128747250	128747250	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747250C>T	ENST00000259235.3	-	13	1875	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	SAP130_ENST00000357702.5_Silent_p.Q582Q|SAP130_ENST00000259234.6_Silent_p.Q556Q	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	582					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTGGTGCAGGCTGTATCCCTG	0.577																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1744-1746)caG>caA		Sin3A-associated protein, 130kDa							125.0	119.0	121.0					2																	128747250		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747250C>T	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1746G>A	2.37:g.128747250C>T						SAP130_ENST00000259234.6_Silent_p.Q556Q|SAP130_ENST00000259235.3_Silent_p.Q582Q	p.Q582Q	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1877	-	Colorectal(110;0.1)		582					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.1746G>A	CCDS2153.1																																																																																				0.577	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		66	402	0	0	0	1	0	66	402				
GRM7	2917	broad.mit.edu	37	3	6903438	6903438	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903438T>G	ENST00000357716.4	+	1	637	c.363T>G	c.(361-363)acT>acG	p.T121T	GRM7_ENST00000486284.1_Silent_p.T121T|GRM7_ENST00000402647.2_Silent_p.T121T|GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	121					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						AGTCGCTTACTTTCGTCCAGG	0.582																																						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.(361-363)acT>acG		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						70.0	66.0	68.0					3																	6903438		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:6903438T>G	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.363T>G	3.37:g.6903438T>G						GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T|GRM7_ENST00000357716.4_Silent_p.T121T|GRM7_ENST00000402647.2_Silent_p.T121T	p.T121T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	637	+			121					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.363T>G	CCDS43042.1																																																																																				0.582	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		62	238	0	0	0	1	0	62	238				
CDC73	79577	broad.mit.edu	37	1	193111038	193111038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193111038G>A	ENST00000367435.3	+	7	755	c.571G>A	c.(571-573)Gct>Act	p.A191T		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	191					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAAATTATGGCTAAGAAAAG	0.373																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(571-573)Gct>Act		cell division cycle 73							63.0	56.0	59.0					1																	193111038		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111038G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.571G>A	1.37:g.193111038G>A	ENSP00000356405:p.Ala191Thr						p.A191T	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	755	+			191					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.571G>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093681	0.76870	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.86030	-2.06	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.79805	2.47	0.80722	D	1	B	0.21520	0.057	B	0.21708	0.036	T	0.81872	-0.0733	10	0.23891	T	0.37	-18.9726	20.5568	0.99304	0.0:0.0:1.0:0.0	.	191	Q6P1J9	CDC73_HUMAN	T	191	ENSP00000356405:A191T	ENSP00000356405:A191T	A	+	1	0	CDC73	191377661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.861000	0.98227	0.655000	0.94253	GCT		0.373	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		34	135	0	0	0	1	0	34	135				
MAGEA5	4104	broad.mit.edu	37	X	151283580	151283580	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151283580G>A	ENST00000509345.2	-	0	756																											GGAAAGCAGCGCTTGTAATTT	0.502																																						ENST00000509345.2																			0																																																			0							g.chrX:151283580G>A																													X.37:g.151283580G>A														0	756	-									RNA	SNP	ENST00000509345.2	37																																																																																						0.502	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			149	521	0	0	0	1	0	149	521				
C10orf76	79591	broad.mit.edu	37	10	103783272	103783272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103783272C>T	ENST00000370033.4	-	8	750	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	211						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCAAGAGGACGACAGCATCA	0.458																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(631-633)Gtc>Atc		chromosome 10 open reading frame 76							119.0	116.0	117.0					10																	103783272		1940	4149	6089	SO:0001583	missense	79591					integral to membrane		g.chr10:103783272C>T	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.631G>A	10.37:g.103783272C>T	ENSP00000359050:p.Val211Ile						p.V211I	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	8	750	-		Colorectal(252;0.123)	211					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.631G>A	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427440	0.43122	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.34521	1.04	0.80722	D	1	B	0.33345	0.409	B	0.22753	0.041	T	0.39941	-0.9589	9	0.29301	T	0.29	-12.1907	18.8547	0.92247	0.0:1.0:0.0:0.0	.	211	Q5T2E6	CJ076_HUMAN	I	211	.	ENSP00000359050:V211I	V	-	1	0	C10orf76	103773262	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	7.480000	0.81109	2.526000	0.85167	0.467000	0.42956	GTC		0.458	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		64	326	0	0	0	1	0	64	326				
RNF123	63891	broad.mit.edu	37	3	49735349	49735349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735349G>A	ENST00000327697.6	+	6	518	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	125	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCACCATCCGCTCTACCACA	0.552																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(373-375)cGc>cAc		ring finger protein 123							320.0	281.0	294.0					3																	49735349		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735349G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.374G>A	3.37:g.49735349G>A	ENSP00000328287:p.Arg125His					RNF123_ENST00000432042.1_5'UTR	p.R125H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	6	518	+			125			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.374G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133591	0.94517	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.64260	-0.09	5.95	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.163697	0.41712	D	0.000839	D	0.82797	0.5115	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.87548	0.2463	10	0.87932	D	0	-26.426	14.3226	0.66496	0.0706:0.0:0.9294:0.0	.	125	Q5XPI4	RN123_HUMAN	H	125	ENSP00000328287:R125H	ENSP00000328287:R125H	R	+	2	0	RNF123	49710353	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.235000	0.78143	1.536000	0.49237	0.655000	0.94253	CGC		0.552	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		283	1172	0	0	0	1	0	283	1172				
KIAA1614	57710	broad.mit.edu	37	1	180886166	180886166	+	Silent	SNP	C	C	T	rs538856835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180886166C>T	ENST00000367588.4	+	2	982	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	309										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGATGCTCAACGTTTCTGGGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.001					ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(925-927)aaC>aaT		KIAA1614							37.0	43.0	41.0					1																	180886166		2009	4180	6189	SO:0001819	synonymous_variant	57710							g.chr1:180886166C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.927C>T	1.37:g.180886166C>T							p.N309N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	982	+			309					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.927C>T	CCDS41442.1																																																																																				0.622	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		61	259	0	0	0	1	0	61	259				
MCM8	84515	broad.mit.edu	37	20	5974312	5974312	+	Missense_Mutation	SNP	C	C	T	rs147649536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5974312C>T	ENST00000378896.3	+	18	2778	c.2401C>T	c.(2401-2403)Cgg>Tgg	p.R801W	MCM8_ENST00000378883.1_Missense_Mutation_p.R754W|MCM8_ENST00000265187.4_Missense_Mutation_p.R785W|MCM8_ENST00000378886.2_Missense_Mutation_p.R841W	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	801					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCATCAACTTCGGCAGATTGC	0.318																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2401-2403)Cgg>Tgg		minichromosome maintenance complex component 8		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	42.0	49.0	47.0		2401,2353	4.7	1.0	20	dbSNP_134	47	0,8598		0,0,4299	no	missense,missense	MCM8	NM_032485.4,NM_182802.1	101,101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	801/841,785/825	5974312	1,13003	2203	4299	6502	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5974312C>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2401C>T	20.37:g.5974312C>T	ENSP00000368174:p.Arg801Trp					MCM8_ENST00000378886.2_Missense_Mutation_p.R841W|MCM8_ENST00000378883.1_Missense_Mutation_p.R754W|MCM8_ENST00000265187.4_Missense_Mutation_p.R785W	p.R801W	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			18	2778	+			801					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2401C>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513050	0.64522	2.27E-4	0.0	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03181	4.08;4.02;4.09;4.08	5.69	4.72	0.59763	.	0.060767	0.64402	D	0.000002	T	0.10981	0.0268	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.65815	0.992;0.995;0.987;0.986	P;P;P;P	0.51229	0.663;0.582;0.54;0.453	T	0.05550	-1.0878	10	0.39692	T	0.17	-7.6747	15.8853	0.79244	0.1364:0.8636:0.0:0.0	.	754;841;785;801	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	W	801;754;841;785	ENSP00000368174:R801W;ENSP00000368161:R754W;ENSP00000368164:R841W;ENSP00000265187:R785W	ENSP00000265187:R785W	R	+	1	2	MCM8	5922312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.514000	0.60482	1.349000	0.45751	0.561000	0.74099	CGG		0.318	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		7	292	0	0	0	1	0	7	292				
SLC9A4	389015	broad.mit.edu	37	2	103095444	103095444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103095444C>A	ENST00000295269.4	+	2	860	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	135					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTGTATCTCCTGCCACCCAT	0.612																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(403-405)Ctg>Atg		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							70.0	65.0	67.0					2																	103095444		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095444C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.403C>A	2.37:g.103095444C>A	ENSP00000295269:p.Leu135Met						p.L135M	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			2	860	+			135					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.403C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111165	0.77210	.	.	ENSG00000180251	ENST00000295269	T	0.25912	1.77	5.92	5.92	0.95590	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	H	0.94808	3.585	0.54753	D	0.999989	D	0.89917	1.0	D	0.83275	0.996	T	0.72187	-0.4366	10	0.87932	D	0	.	14.4691	0.67504	0.0:0.9302:0.0:0.0698	.	135	Q6AI14	SL9A4_HUMAN	M	135	ENSP00000295269:L135M	ENSP00000295269:L135M	L	+	1	2	SLC9A4	102461876	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	3.996000	0.57009	2.804000	0.96469	0.655000	0.94253	CTG		0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		13	469	1	0	3.27435e-08	1	3.41456e-08	13	469				
PLEKHA4	57664	broad.mit.edu	37	19	49357476	49357476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49357476C>A	ENST00000263265.6	-	10	1648	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	365						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CAACTTACATCTGTCTCCAAG	0.512																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1093-1095)Gat>Tat		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							109.0	116.0	114.0					19																	49357476		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49357476C>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1093G>T	19.37:g.49357476C>A	ENSP00000263265:p.Asp365Tyr					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	p.D365Y	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	10	1648	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	365					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.1093G>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936060	0.73442	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.39056	1.1;1.1	5.2	5.2	0.72013	.	0.367900	0.25380	N	0.031082	T	0.61825	0.2378	M	0.64997	1.995	0.39509	D	0.968337	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.65672	-0.6111	10	0.87932	D	0	.	14.6028	0.68453	0.0:1.0:0.0:0.0	.	340;365	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	Y	365;340	ENSP00000263265:D365Y;ENSP00000347683:D340Y	ENSP00000263265:D365Y	D	-	1	0	PLEKHA4	54049288	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.439000	0.52878	2.580000	0.87095	0.563000	0.77884	GAT		0.512	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			120	468	1	0	1.84609e-46	1	2.26828e-46	120	468				
BPTF	2186	broad.mit.edu	37	17	65862587	65862587	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862587G>T	ENST00000321892.4	+	3	1505	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	BPTF_ENST00000306378.6_Missense_Mutation_p.D482Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	482					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAGAAGAAGATACAGAAAA	0.328																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1444-1446)Gat>Tat		bromodomain PHD finger transcription factor							65.0	76.0	73.0					17																	65862587		2197	4296	6493	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65862587G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1444G>T	17.37:g.65862587G>T	ENSP00000315454:p.Asp482Tyr					BPTF_ENST00000306378.6_Missense_Mutation_p.D482Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y	p.D482Y			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1505	+	all_cancers(12;6e-11)		482					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1444G>T		.	.	.	.	.	.	.	.	.	.	G	15.58	2.875642	0.51695	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.64991	-0.11;-0.13;-0.12	5.84	5.84	0.93424	.	.	.	.	.	T	0.66376	0.2783	L	0.49350	1.555	0.80722	D	1	B;P;P	0.47106	0.128;0.756;0.89	B;P;P	0.49683	0.03;0.619;0.6	T	0.68720	-0.5334	9	0.72032	D	0.01	.	14.9343	0.70941	0.0:0.0:0.8571:0.1429	.	482;482;482	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	Y	387;482;482;482;343	ENSP00000307208:D482Y;ENSP00000334351:D482Y;ENSP00000315454:D482Y	ENSP00000307208:D482Y	D	+	1	0	BPTF	63293049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.618000	0.74214	2.760000	0.94817	0.655000	0.94253	GAT		0.328	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		101	505	1	0	2.76703e-59	1	3.4739e-59	101	505				
OR14K1	343170	broad.mit.edu	37	1	247902169	247902169	+	Missense_Mutation	SNP	G	G	A	rs376802380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247902169G>A	ENST00000283225.2	+	1	253	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CAACTCTGTCGCCTCCACTGA	0.507																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(253-255)Gcc>Acc		olfactory receptor, family 14, subfamily K, member 1		G		1,4367		0,1,2183	118.0	118.0	118.0			-7.5	0.0	1		118	1,8583		0,1,4291	no	intergenic				0,2,6474	AA,AG,GG		0.0116,0.0229,0.0154			247902169	2,12950	2184	4292	6476	SO:0001583	missense	343170							g.chr1:247902169G>A	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.253G>A	1.37:g.247902169G>A	ENSP00000283225:p.Ala85Thr					RP11-634B7.4_ENST00000449298.1_RNA	p.A85T							1	253	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.253G>A		.	.	.	.	.	.	.	.	.	.	A	0.139	-1.104688	0.01828	2.29E-4	1.16E-4	ENSG00000153230	ENST00000283225	T	0.01347	4.99	3.74	-7.48	0.01360	.	1.893990	0.04454	N	0.373174	T	0.00524	0.0017	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46679	-0.9174	7	0.06625	T	0.88	.	2.2564	0.04056	0.1827:0.1107:0.1671:0.5394	.	.	.	.	T	85	ENSP00000283225:A85T	ENSP00000283225:A85T	A	+	1	0	OR14K1	245968792	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.761000	0.00786	-1.458000	0.01916	-1.716000	0.00709	GCC		0.507	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		77	340	0	0	0	1	0	77	340				
GSX2	170825	broad.mit.edu	37	4	54967769	54967769	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54967769G>T	ENST00000326902.2	+	2	909	c.595G>T	c.(595-597)Gta>Tta	p.V199L	GSX2_ENST00000503800.1_Missense_Mutation_p.R128S|FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	199					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGCCAGCCAGGTACCCAATGG	0.587																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(595-597)Gta>Tta		GS homeobox 2							59.0	63.0	62.0					4																	54967769		2203	4300	6503	SO:0001583	missense	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54967769G>T		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.595G>T	4.37:g.54967769G>T	ENSP00000319118:p.Val199Leu					FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_Missense_Mutation_p.R128S	p.V199L	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	909	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		199						Missense_Mutation	SNP	ENST00000326902.2	37	c.595G>T	CCDS3494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.120|4.120	0.020448|0.020448	0.08006|0.08006	.|.	.|.	ENSG00000180613|ENSG00000180613	ENST00000503800|ENST00000326902	T|D	0.44881|0.95447	0.91|-3.71	4.9|4.9	3.97|3.97	0.46021|0.46021	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.599177	.|0.17438	.|N	.|0.174220	D|D	0.84763|0.84763	0.5544|0.5544	N|N	0.04508|0.04508	-0.205|-0.205	0.20196|0.20196	N|N	0.99992|0.99992	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.71210|0.71210	-0.4660|-0.4660	7|10	0.23302|0.10902	T|T	0.38|0.67	.|.	6.1955|6.1955	0.20548|0.20548	0.1326:0.1976:0.6698:0.0|0.1326:0.1976:0.6698:0.0	.|.	.|199	.|Q9BZM3	.|GSX2_HUMAN	S|L	128|199	ENSP00000422213:R128S|ENSP00000319118:V199L	ENSP00000422213:R128S|ENSP00000319118:V199L	R|V	+|+	3|1	2|0	GSX2|GSX2	54662526|54662526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.948000|0.948000	0.59901|0.59901	2.792000|2.792000	0.47837|0.47837	2.535000|2.535000	0.85469|0.85469	0.484000|0.484000	0.47621|0.47621	AGG|GTA		0.587	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		11	272	1	0	3.86212e-05	1	3.93988e-05	11	272				
BSN	8927	broad.mit.edu	37	3	49690192	49690192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690192G>A	ENST00000296452.4	+	5	3317	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1068					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)		CAGCGCATCCGCAGCACGGCC	0.647																																						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.(3202-3204)cGc>cAc		bassoon presynaptic cytomatrix protein							33.0	38.0	36.0					3																	49690192		2203	4299	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690192G>A	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.3203G>A	3.37:g.49690192G>A	ENSP00000296452:p.Arg1068His						p.R1068H	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)	5	3317	+			1068					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3203G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536312	0.45176	.	.	ENSG00000164061	ENST00000296452	T	0.23754	1.89	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.66939	2.045	0.37678	D	0.923388	D	0.89917	1.0	D	0.68621	0.959	T	0.56613	-0.7950	10	0.66056	D	0.02	.	15.2326	0.73404	0.0:0.1407:0.8593:0.0	.	1068	Q9UPA5	BSN_HUMAN	H	1068	ENSP00000296452:R1068H	ENSP00000296452:R1068H	R	+	2	0	BSN	49665196	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.773000	0.75006	2.357000	0.79964	0.561000	0.74099	CGC		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		55	245	0	0	0	1	0	55	245				
ATXN7	6314	broad.mit.edu	37	3	63981756	63981756	+	Missense_Mutation	SNP	C	C	T	rs562913625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981756C>T	ENST00000295900.6	+	12	2808	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000398590.3_Missense_Mutation_p.S753F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	753	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTAACATCTTCCCATAGCATC	0.557																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2257-2259)tCc>tTc		ataxin 7							71.0	74.0	73.0					3																	63981756		2026	4199	6225	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981756C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2258C>T	3.37:g.63981756C>T	ENSP00000295900:p.Ser753Phe					ATXN7_ENST00000295900.6_Missense_Mutation_p.S753F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F	p.S753F	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2811	+		Prostate(884;0.0181)	753			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.2258C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043594	0.75732	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.18960	2.18;2.22;2.22;2.18;2.2	4.78	4.78	0.61160	.	0.408743	0.27631	N	0.018516	T	0.32406	0.0828	L	0.53249	1.67	0.58432	D	0.99999	P;P;P	0.50617	0.8;0.937;0.895	B;P;B	0.49999	0.424;0.628;0.424	T	0.03259	-1.1055	10	0.40728	T	0.16	-1.2999	18.2362	0.89950	0.0:1.0:0.0:0.0	.	608;753;753	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	F	753;753;753;753;608	ENSP00000381590:S753F;ENSP00000295900:S753F;ENSP00000420234:S753F;ENSP00000439585:S753F;ENSP00000428277:S608F	ENSP00000295900:S753F	S	+	2	0	ATXN7	63956796	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	7.191000	0.77763	2.383000	0.81215	0.650000	0.86243	TCC		0.557	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		15	438	0	0	0	1	0	15	438				
WDR70	55100	broad.mit.edu	37	5	37479970	37479970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37479970G>T	ENST00000265107.4	+	8	877	c.721G>T	c.(721-723)Gga>Tga	p.G241*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	241							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGTAACACAGGAGACATGAT	0.348																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(721-723)Gga>Tga		WD repeat domain 70							231.0	215.0	221.0					5																	37479970		2203	4300	6503	SO:0001587	stop_gained	55100							g.chr5:37479970G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.721G>T	5.37:g.37479970G>T	ENSP00000265107:p.Gly241*					WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*|WDR70_ENST00000510699.1_3'UTR	p.G241*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	877	+	all_lung(31;0.000285)		241					Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	37	c.721G>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	40	8.390321	0.98791	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.2527	19.5183	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000265107:G241X	G	+	1	0	WDR70	37515727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.270000	0.95690	2.633000	0.89246	0.655000	0.94253	GGA		0.348	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		130	572	1	0	9.77321e-77	1	1.24726e-76	130	572				
HIST1H1E	3008	broad.mit.edu	37	6	26157183	26157183	+	Missense_Mutation	SNP	G	G	A	rs372876447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26157183G>A	ENST00000304218.3	+	1	625	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	189					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAGAGCCCAGCGAAGGCCAA	0.542																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(565-567)Gcg>Acg		histone cluster 1, H1e		G	THR/ALA	0,4402		0,0,2201	27.0	28.0	27.0		565	5.5	0.9	6		27	1,8595		0,1,4297	no	missense	HIST1H1E	NM_005321.2	58	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	189/220	26157183	1,12997	2201	4298	6499	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26157183G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.565G>A	6.37:g.26157183G>A	ENSP00000307705:p.Ala189Thr						p.A189T	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	625	+			189					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.565G>A	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.658789	0.67586	0.0	1.16E-4	ENSG00000168298	ENST00000304218	T	0.23147	1.92	5.48	5.48	0.80851	.	0.281102	0.33217	N	0.005152	T	0.25754	0.0627	M	0.69523	2.12	0.43230	D	0.995122	P	0.51057	0.941	B	0.43889	0.435	T	0.06041	-1.0849	10	0.51188	T	0.08	-4.8345	18.6997	0.91615	0.0:0.0:1.0:0.0	.	189	P10412	H14_HUMAN	T	189	ENSP00000307705:A189T	ENSP00000307705:A189T	A	+	1	0	HIST1H1E	26265162	1.000000	0.71417	0.916000	0.36221	0.999000	0.98932	4.418000	0.59828	2.717000	0.92951	0.655000	0.94253	GCG		0.542	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		28	145	0	0	0	1	0	28	145				
FBXO11	80204	broad.mit.edu	37	2	48037464	48037464	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48037464A>G	ENST00000403359.3	-	19	2401	c.2329T>C	c.(2329-2331)Ttt>Ctt	p.F777L	FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L|FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L|FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000405808.1_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	777					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGCGGCAAATCCATCAAAT	0.333			"""Mis, F, D"""		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2329-2331)Ttt>Ctt		F-box protein 11							76.0	75.0	76.0					2																	48037464		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48037464A>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2329T>C	2.37:g.48037464A>G	ENSP00000384823:p.Phe777Leu					FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L|FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L	p.F777L	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		19	2401	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	777					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2329T>C	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691405	0.48097	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	N	0.04245	-0.25	0.80722	D	1	B	0.29862	0.259	P	0.55871	0.786	T	0.76547	-0.2919	10	0.27785	T	0.31	-2.8193	16.8061	0.85666	1.0:0.0:0.0:0.0	.	201	B3KUR1	.	L	693;777;693;201	ENSP00000385398:F693L;ENSP00000384823:F777L;ENSP00000323822:F693L;ENSP00000397359:F201L	ENSP00000323822:F693L	F	-	1	0	FBXO11	47890968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.367000	0.80283	0.528000	0.53228	TTT		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		25	149	0	0	0	1	0	25	149				
PPFIA3	8541	broad.mit.edu	37	19	49632175	49632175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49632175G>A	ENST00000334186.4	+	4	762	c.413G>A	c.(412-414)cGc>cAc	p.R138H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	138					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGTGAAGCGCCAGGCCCAG	0.597																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(412-414)cGc>cAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							56.0	61.0	59.0					19																	49632175		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49632175G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.413G>A	19.37:g.49632175G>A	ENSP00000335614:p.Arg138His					PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	p.R138H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	4	762	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	138					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.413G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858546	0.97036	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.51325	0.71	4.74	4.74	0.60224	.	0.000000	0.44097	D	0.000481	T	0.56352	0.1979	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.61845	-0.6979	10	0.87932	D	0	-14.6239	17.0217	0.86435	0.0:0.0:1.0:0.0	.	62;138;138	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	H	138;62	ENSP00000335614:R138H	ENSP00000335614:R138H	R	+	2	0	PPFIA3	54323987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.596000	0.98267	2.646000	0.89796	0.563000	0.77884	CGC		0.597	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		80	406	0	0	0	1	0	80	406				
TRPC4AP	26133	broad.mit.edu	37	20	33588098	33588098	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33588098G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.R1637H			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCCCATAGGCGCAACCACCAG	0.582																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4909-4911)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							104.0	116.0	112.0					20																	33588098		2047	4110	6157	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588098G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588098G>A							p.R1637H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		37	5002	+			1595					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.4910G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418027	0.83449	.	.	ENSG00000078814	ENST00000262873	T	0.81415	-1.49	3.97	3.97	0.46021	Myosin tail (1);	0.000000	0.35235	N	0.003347	D	0.92364	0.7577	H	0.96547	3.84	0.58432	D	0.999991	D	0.76494	0.999	D	0.65773	0.938	D	0.95091	0.8222	10	0.87932	D	0	.	16.6423	0.85129	0.0:0.0:1.0:0.0	.	1595	A7E2Y1	MYH7B_HUMAN	H	1637	ENSP00000262873:R1637H	ENSP00000262873:R1637H	R	+	2	0	MYH7B	33051759	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.758000	0.85224	2.222000	0.72286	0.558000	0.71614	CGC		0.582	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		219	986	0	0	0	1	0	219	986				
PLA2G6	8398	broad.mit.edu	37	22	38531004	38531004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531004C>A	ENST00000332509.3	-	6	1068	c.885G>T	c.(883-885)aaG>aaT	p.K295N	PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N|PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	295					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTCTGCGTTCTTGGCCCAGT	0.657																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(883-885)aaG>aaT		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						42.0	43.0	43.0					22																	38531004		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531004C>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.885G>T	22.37:g.38531004C>A	ENSP00000333142:p.Lys295Asn					PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N|PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N	p.K295N	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	1068	-	Melanoma(58;0.045)		295					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.885G>T	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.862454|2.862454	0.51482|0.51482	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.62941|.	-0.01;-0.01;-0.01|.	5.67|5.67	2.51|2.51	0.30379|0.30379	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13098|0.13098	0.295|0.295	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	1.0;1.0;0.993|.	D;D;D|.	0.91635|.	0.999;0.997;0.917|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.25106|.	T|.	0.35|.	-42.4992|-42.4992	8.61|8.61	0.33797|0.33797	0.0:0.6465:0.0:0.3535|0.0:0.6465:0.0:0.3535	.|.	260;295;295|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	N|I	295;156;295;295;223;295;260|100;47;126	ENSP00000333142:K295N;ENSP00000335149:K295N;ENSP00000386100:K295N|.	ENSP00000333142:K295N|.	K|R	-|-	3|2	2|0	PLA2G6|PLA2G6	36860950|36860950	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.453000|0.453000	0.32348|0.32348	0.802000|0.802000	0.27069|0.27069	0.352000|0.352000	0.24053|0.24053	-0.254000|-0.254000	0.11334|0.11334	AAG|AGA		0.657	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		37	163	1	0	1.04594e-18	1	1.16214e-18	37	163				
VN1R2	317701	broad.mit.edu	37	19	53762196	53762196	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762196A>G	ENST00000341702.3	+	1	652	c.568A>G	c.(568-570)Acc>Gcc	p.T190A		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	190					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.T190S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCAGGTGATCACCATCAACCC	0.488																																						ENST00000341702.3																			1	Substitution - Missense(1)	p.T190S(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(568-570)Acc>Gcc		vomeronasal 1 receptor 2							45.0	45.0	45.0					19																	53762196		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762196A>G	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.568A>G	19.37:g.53762196A>G	ENSP00000351244:p.Thr190Ala						p.T190A	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	652	+			190					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.568A>G	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	8.622	0.891570	0.17613	.	.	ENSG00000196131	ENST00000341702	T	0.24723	1.84	2.94	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46870	0.1415	M	0.89478	3.035	0.09310	N	1	D	0.55605	0.972	P	0.60609	0.877	T	0.34179	-0.9839	9	0.72032	D	0.01	.	3.328	0.07074	0.6274:0.2408:0.1318:0.0	.	190	Q8NFZ6	VN1R2_HUMAN	A	190	ENSP00000351244:T190A	ENSP00000351244:T190A	T	+	1	0	VN1R2	58454008	0.001000	0.12720	0.022000	0.16811	0.022000	0.10575	0.059000	0.14322	0.560000	0.29169	0.486000	0.48141	ACC		0.488	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		47	213	0	0	0	1	0	47	213				
NDUFA10	4705	broad.mit.edu	37	2	240921628	240921628	+	Intron	SNP	G	G	T	rs369652236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240921628G>T	ENST00000252711.2	-	9	1100				NDUFA10_ENST00000404554.1_Silent_p.I336I	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		GCGGGTAGGGGATCCCCAGCT	0.488																																						ENST00000404554.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(1006-1008)atC>atA		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						104.0	99.0	100.0					2																	240921628		876	1991	2867	SO:0001627	intron_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240921628G>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.999+7862C>A	2.37:g.240921628G>T						NDUFA10_ENST00000252711.2_Intron	p.I336I			O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	10	1012	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	333					Q8WXC9	Silent	SNP	ENST00000252711.2	37	c.1008C>A	CCDS2531.1																																																																																				0.488	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		79	316	1	0	6.11987e-43	1	7.46226e-43	79	316				
MICAL2	9645	broad.mit.edu	37	11	12246330	12246330	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12246330C>A	ENST00000256194.4	+	13	1939	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M	MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M|MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M|MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	551	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGGTTGGCCCTGTGTGCCAT	0.647																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1651-1653)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 2							101.0	84.0	90.0					11																	12246330		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12246330C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1651C>A	11.37:g.12246330C>A	ENSP00000256194:p.Leu551Met					MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M|MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M|MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M	p.L551M	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	13	1939	+			551			CH.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1651C>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749488	0.69533	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	5.01	4.02	0.46733	Calponin homology domain (5);	0.000000	0.64402	D	0.000005	D	0.98485	0.9495	M	0.89353	3.025	0.58432	D	0.999999	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;0.999;1.0;1.0	D	0.98206	1.0470	10	0.87932	D	0	.	7.4697	0.27342	0.0:0.7662:0.0:0.2338	.	551;551;551;551;551	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	M	551;84;551;551;551;551	ENSP00000441689:L551M;ENSP00000256194:L551M;ENSP00000433965:L551M;ENSP00000344894:L551M;ENSP00000368932:L551M	ENSP00000256194:L551M	L	+	1	2	MICAL2	12202906	0.581000	0.26741	1.000000	0.80357	0.975000	0.68041	1.248000	0.32827	2.606000	0.88127	0.655000	0.94253	CTG		0.647	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		14	304	1	0	3.27435e-08	1	3.41456e-08	14	304				
TRANK1	9881	broad.mit.edu	37	3	36876271	36876271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36876271G>T	ENST00000429976.2	-	20	5760	c.5513C>A	c.(5512-5514)gCt>gAt	p.A1838D	TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1288D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1838							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCAATAGCAGCTTCTTCAAA	0.483																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5512-5514)gCt>gAt		tetratricopeptide repeat and ankyrin repeat containing 1							108.0	108.0	108.0					3																	36876271		1913	4119	6032	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36876271G>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5513C>A	3.37:g.36876271G>T	ENSP00000416168:p.Ala1838Asp					TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1288D	p.A1838D			O15050	TRNK1_HUMAN			20	5760	-			1838					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5513C>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604635	0.87157	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.39406	1.08;1.5;1.08	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000017	T	0.56834	0.2012	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.57394	-0.7819	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	1838	O15050	TRNK1_HUMAN	D	1288;1838;1288	ENSP00000416826:A1288D;ENSP00000416168:A1838D;ENSP00000301807:A1288D	ENSP00000301807:A1288D	A	-	2	0	TRANK1	36851275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.778000	0.75043	2.941000	0.99782	0.655000	0.94253	GCT		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		77	233	1	0	5.42381e-49	1	6.70277e-49	77	233				
FABP4	2167	broad.mit.edu	37	8	82391667	82391667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82391667C>A	ENST00000256104.4	-	3	425	c.330G>T	c.(328-330)gaG>gaT	p.E110D	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	110					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTTTATCATCCTCTCGTTTTC	0.403																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(328-330)gaG>gaT		fatty acid binding protein 4, adipocyte							302.0	270.0	281.0					8																	82391667		2203	4300	6503	SO:0001583	missense	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82391667C>A	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.330G>T	8.37:g.82391667C>A	ENSP00000256104:p.Glu110Asp					RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	p.E110D	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		3	425	-			110					Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	37	c.330G>T	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	9.214	1.031752	0.19590	.	.	ENSG00000170323	ENST00000256104	T	0.08458	3.09	5.56	3.71	0.42584	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.477666	0.24683	N	0.036444	T	0.03520	0.0101	N	0.08118	0	0.33815	D	0.628387	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.13853	T	0.58	.	5.3675	0.16121	0.1482:0.6352:0.0:0.2166	.	110	P15090	FABP4_HUMAN	D	110	ENSP00000256104:E110D	ENSP00000256104:E110D	E	-	3	2	FABP4	82554222	0.567000	0.26626	1.000000	0.80357	0.961000	0.63080	-0.082000	0.11304	0.779000	0.33543	0.655000	0.94253	GAG		0.403	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		50	263	1	0	1.39843e-22	1	1.58406e-22	50	263				
ZNF350	59348	broad.mit.edu	37	19	52468200	52468200	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52468200T>C	ENST00000243644.4	-	5	1733	c.1506A>G	c.(1504-1506)ggA>ggG	p.G502G	HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	502					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTGTGCAAATCCTCTGTTAT	0.453																																						ENST00000243644.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1504-1506)ggA>ggG		zinc finger protein 350							109.0	93.0	98.0					19																	52468200		2203	4300	6503	SO:0001819	synonymous_variant	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468200T>C	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1506A>G	19.37:g.52468200T>C						HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	p.G502G	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1733	-		all_neural(266;0.0505)	502					Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	37	c.1506A>G	CCDS12845.1																																																																																				0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		66	265	0	0	0	1	0	66	265				
ZBED1	9189	broad.mit.edu	37	X	2406917	2406917	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406917C>T	ENST00000381223.4	-	2	2047	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H|ZBED1_ENST00000515319.1_5'UTR	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	615					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGGCGACGCGCGTGGCCGT	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		17210	0.0		0.0	False		,,,				2504	0.001					ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1843-1845)cGc>cAc		zinc finger, BED-type containing 1							120.0	120.0	120.0					X																	2406917		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406917C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1844G>A	X.37:g.2406917C>T	ENSP00000370621:p.Arg615His					RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H|DHRSX_ENST00000334651.5_Intron	p.R615H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	2047	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	615					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1844G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211017	0.39102	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22336	1.96;1.96;1.96	3.06	3.06	0.35304	HAT dimerisation (1);Ribonuclease H-like (1);	0.371038	0.23307	N	0.049612	T	0.41880	0.1178	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64144	0.922	T	0.27020	-1.0086	9	0.72032	D	0.01	.	13.6519	0.62316	0.0:1.0:0.0:0.0	.	615	O96006	ZBED1_HUMAN	H	615	ENSP00000370621:R615H;ENSP00000370620:R615H;ENSP00000370616:R615H	ENSP00000370616:R615H	R	-	2	0	ZBED1	2416917	0.964000	0.33143	0.141000	0.22245	0.139000	0.21198	5.063000	0.64332	1.155000	0.42497	0.519000	0.50382	CGC		0.662	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		217	711	0	0	0	1	0	217	711				
SKIV2L	6499	broad.mit.edu	37	6	31936211	31936211	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31936211C>G	ENST00000375394.2	+	24	3078	c.2965C>G	c.(2965-2967)Cag>Gag	p.Q989E	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	989					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAATGACCTGCAGCTCAAAGA	0.632																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(2965-2967)Cag>Gag		superkiller viralicidic activity 2-like (S. cerevisiae)							62.0	75.0	70.0					6																	31936211		1509	2707	4216	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31936211C>G		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2965C>G	6.37:g.31936211C>G	ENSP00000364543:p.Gln989Glu					SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	p.Q989E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			24	3078	+			989					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.2965C>G	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878536	0.33162	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.46451	0.99;0.87	5.14	5.14	0.70334	.	0.164519	0.56097	D	0.000030	T	0.32406	0.0828	L	0.50333	1.59	0.37894	D	0.930823	P	0.43542	0.81	B	0.43478	0.421	T	0.09796	-1.0658	10	0.37606	T	0.19	-22.6152	17.7336	0.88386	0.0:1.0:0.0:0.0	.	989	Q15477	SKIV2_HUMAN	E	989;831;796	ENSP00000364543:Q989E;ENSP00000442645:Q796E	ENSP00000364543:Q989E	Q	+	1	0	SKIV2L	32044190	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.574000	0.74014	2.549000	0.85964	0.655000	0.94253	CAG		0.632	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			91	452	0	0	0	1	0	91	452				
MTMR12	54545	broad.mit.edu	37	5	32230272	32230272	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32230272T>G	ENST00000382142.3	-	16	2026	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T	MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	619	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTCAGTGGACTTGCTATGCCA	0.448																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1855-1857)aAg>aCg		myotubularin related protein 12							100.0	99.0	99.0					5																	32230272		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230272T>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1856A>C	5.37:g.32230272T>G	ENSP00000371577:p.Lys619Thr					MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T|MTMR12_ENST00000510216.1_5'UTR	p.K619T	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			16	2026	-			619			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1856A>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210419	0.58343	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.42131	0.98;0.98;0.98	5.78	2.13	0.27403	Myotubularin phosphatase domain (1);	0.470463	0.23450	N	0.048057	T	0.42245	0.1194	L	0.59436	1.845	0.21325	N	0.999729	P;B;P	0.37158	0.585;0.449;0.505	B;B;B	0.42827	0.399;0.212;0.317	T	0.28870	-1.0030	10	0.49607	T	0.09	.	9.2291	0.37425	0.0:0.2043:0.0:0.7957	.	509;565;619	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	T	565;619;509	ENSP00000280285:K565T;ENSP00000371577:K619T;ENSP00000264934:K509T	ENSP00000264934:K509T	K	-	2	0	MTMR12	32266029	1.000000	0.71417	0.969000	0.41365	0.800000	0.45204	2.127000	0.42035	0.139000	0.18822	0.459000	0.35465	AAG		0.448	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		103	525	0	0	0	1	0	103	525				
CCBE1	147372	broad.mit.edu	37	18	57115301	57115301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115301C>T	ENST00000439986.4	-	7	726	c.689G>A	c.(688-690)gGc>gAc	p.G230D	CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	230					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GATATACTTGCCCAGGTCAGC	0.577																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(688-690)gGc>gAc		collagen and calcium binding EGF domains 1							110.0	79.0	90.0					18																	57115301		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57115301C>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.689G>A	18.37:g.57115301C>T	ENSP00000404464:p.Gly230Asp					CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	p.G230D	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			7	726	-		Colorectal(73;0.175)	230					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.689G>A	CCDS32838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672116|2.672116	0.47781|0.47781	.|.	.|.	ENSG00000183287|ENSG00000183287	ENST00000398179|ENST00000439986	T|T	0.33438|0.68479	1.41|-0.33	5.62|5.62	4.74|4.74	0.60224|0.60224	.|.	.|0.531492	.|0.21278	.|N	.|0.077192	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.57536|0.57536	1.79|1.79	0.21020|0.21020	N|N	0.999809|0.999809	P|P;P	0.40731|0.45531	0.728|0.666;0.86	B|B;P	0.41332|0.47075	0.354|0.194;0.536	T|T	0.64076|0.64076	-0.6492|-0.6492	9|10	0.87932|0.62326	D|D	0|0.03	-24.5082|-24.5082	11.0934|11.0934	0.48130|0.48130	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	6|230;39	Q6UXH8-2|Q6UXH8;Q6UXH8-3	.|CCBE1_HUMAN;.	T|D	6|230	ENSP00000381241:A6T|ENSP00000404464:G230D	ENSP00000381241:A6T|ENSP00000404464:G230D	A|G	-|-	1|2	0|0	CCBE1|CCBE1	55266281|55266281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	3.725000|3.725000	0.54970|0.54970	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.577	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		72	278	0	0	0	1	0	72	278				
OR4A5	81318	broad.mit.edu	37	11	51411541	51411541	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411541C>T	ENST00000319760.6	-	1	907	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T285T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATTTCTCAACGTATATATTA	0.328																																						ENST00000319760.6																			1	Substitution - coding silent(1)	p.T285T(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(853-855)acG>acA		olfactory receptor, family 4, subfamily A, member 5							34.0	36.0	35.0					11																	51411541		2201	4293	6494	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411541C>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.855G>A	11.37:g.51411541C>T							p.T285T	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	907	-		all_lung(304;0.236)	285					Q6IF84	Silent	SNP	ENST00000319760.6	37	c.855G>A	CCDS31497.1																																																																																				0.328	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		29	136	0	0	0	1	0	29	136				
ZBTB46	140685	broad.mit.edu	37	20	62421293	62421293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62421293C>T	ENST00000245663.4	-	2	968	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q|ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	273					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TTTGTTTTTCCGATTCTTCCT	0.627																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(817-819)cGg>cAg		zinc finger and BTB domain containing 46							82.0	78.0	79.0					20																	62421293		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421293C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.818G>A	20.37:g.62421293C>T	ENSP00000245663:p.Arg273Gln					ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q|ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q	p.R273Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	968	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		273					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.818G>A	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461000	0.63513	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.12774	2.65;2.65;2.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.63843	1.955	0.47123	D	0.999327	D	0.57899	0.981	P	0.46275	0.51	T	0.04870	-1.0921	10	0.11794	T	0.64	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	273	Q86UZ6	ZBT46_HUMAN	Q	273	ENSP00000245663:R273Q;ENSP00000303102:R273Q;ENSP00000378536:R273Q	ENSP00000245663:R273Q	R	-	2	0	ZBTB46	61891737	0.997000	0.39634	0.966000	0.40874	0.785000	0.44390	5.613000	0.67688	2.749000	0.94314	0.655000	0.94253	CGG		0.627	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		105	429	0	0	0	1	0	105	429				
SIPA1L3	23094	broad.mit.edu	37	19	38610136	38610136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610136C>A	ENST00000222345.6	+	9	2991	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	828	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCAAGGACCTGGCCGAAAA	0.557																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2482-2484)Ctg>Atg		signal-induced proliferation-associated 1 like 3							90.0	77.0	81.0					19																	38610136		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610136C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2482C>A	19.37:g.38610136C>A	ENSP00000222345:p.Leu828Met						p.L828M	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	2991	+			828			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2482C>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951204	0.73787	.	.	ENSG00000105738	ENST00000222345	D	0.95949	-3.86	5.75	4.72	0.59763	Rap/ran-GAP (2);	0.000000	0.64402	D	0.000001	D	0.96861	0.8975	M	0.72353	2.195	0.47341	D	0.999397	D	0.56746	0.977	D	0.70935	0.971	D	0.96927	0.9678	10	0.87932	D	0	-22.4447	10.6047	0.45388	0.0:0.8459:0.0:0.1541	.	828	O60292	SI1L3_HUMAN	M	828	ENSP00000222345:L828M	ENSP00000222345:L828M	L	+	1	2	SIPA1L3	43301976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.356000	0.34079	1.451000	0.47736	-0.136000	0.14681	CTG		0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		80	245	1	0	1.20111e-47	1	1.47919e-47	80	245				
SSPO	23145	broad.mit.edu	37	7	149514988	149514988	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149514988G>T	ENST00000378016.2	+	0	11378							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTTCCCCCAGCTCGTGTGCA	0.662																																						ENST00000378016.2																			0													SCO-spondin							38.0	42.0	41.0					7																	149514988		1981	4150	6131			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149514988G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149514988G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11378	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				44	169	1	0	1.00776e-21	1	1.13667e-21	44	169				
BRDT	676	broad.mit.edu	37	1	92446276	92446276	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92446276C>A	ENST00000362005.3	+	10	1782	c.1364C>A	c.(1363-1365)tCt>tAt	p.S455Y	BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000370389.2_Missense_Mutation_p.S382Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y|BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	455					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAGAGAAGTCTAAAAAGGAA	0.323																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1144-1146)tCt>tAt		bromodomain, testis-specific							45.0	50.0	48.0					1																	92446276		2200	4295	6495	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446276C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1364C>A	1.37:g.92446276C>A	ENSP00000354568:p.Ser455Tyr					BRDT_ENST00000362005.3_Missense_Mutation_p.S455Y|BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y|BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y	p.S382Y	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	9	2069	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	455					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1145C>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	7.522	0.656878	0.14580	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.8	4.89	0.63831	.	0.810877	0.10944	N	0.616858	T	0.08268	0.0206	L	0.51422	1.61	0.26267	N	0.978481	P;P;B;P	0.48162	0.906;0.906;0.048;0.906	P;P;B;P	0.44732	0.459;0.459;0.024;0.459	T	0.21314	-1.0249	10	0.72032	D	0.01	-0.1534	9.7956	0.40733	0.1389:0.7913:0.0:0.0698	.	409;409;459;455	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Y	455;382;455;455;409;455;455	ENSP00000354568:S455Y;ENSP00000359416:S382Y;ENSP00000387822:S455Y;ENSP00000378038:S409Y;ENSP00000404969:S455Y;ENSP00000384051:S455Y	ENSP00000354568:S455Y	S	+	2	0	BRDT	92218864	0.994000	0.37717	0.097000	0.21041	0.118000	0.20060	2.258000	0.43249	1.457000	0.47850	0.650000	0.86243	TCT		0.323	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		21	156	1	0	1.28384e-07	1	1.33406e-07	21	156				
MASP1	5648	broad.mit.edu	37	3	186953477	186953477	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186953477G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.R615W|MASP1_ENST00000495249.1_5'Flank|MASP1_ENST00000296280.6_Missense_Mutation_p.R728W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCAGCTCACCGTTCCACCTGG	0.542																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(2182-2184)Cgg>Tgg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							86.0	76.0	80.0					3																	186953477		2203	4300	6503	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186953477G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5791C>T	3.37:g.186953477G>A						MASP1_ENST00000392472.2_Missense_Mutation_p.R615W|MASP1_ENST00000337774.5_Intron	p.R728W	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	2407	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		0					A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.2182C>T	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755415	0.49362	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541811	D;D	0.83250	-1.68;-1.7	6.16	5.29	0.74685	.	0.376195	0.22804	N	0.055430	T	0.79604	0.4474	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.80167	-0.1495	10	0.87932	D	0	.	7.4791	0.27393	0.0809:0.0:0.7417:0.1774	.	615;728	P48740-4;P48740-2	.;.	W	728;615;82	ENSP00000296280:R728W;ENSP00000376264:R615W	ENSP00000296280:R728W	R	-	1	2	MASP1	188436171	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	3.036000	0.49767	2.937000	0.99478	0.650000	0.86243	CGG		0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		59	261	0	0	0	1	0	59	261				
ZNF876P	642280	broad.mit.edu	37	4	206515	206515	+	RNA	SNP	C	C	T	rs530398173	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:206515C>T	ENST00000356347.3	+	0	117					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTGTGACCTGCGGGTATTGGA	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		17025	0.003		0.0	False		,,,				2504	0.0					ENST00000356347.3																			0																																																			0							g.chr4:206515C>T	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206515C>T								NR_027481.1						0	117	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.637	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		23	141	0	0	0	1	0	23	141				
CASP9	842	broad.mit.edu	37	1	15832565	15832565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15832565G>T	ENST00000333868.5	-	5	734	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000546424.1_Missense_Mutation_p.L214M|CASP9_ENST00000348549.5_Intron	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	214					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGCAAAGCCAGCACCATTTTC	0.577																																						ENST00000546424.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18						c.(640-642)Ctg>Atg		caspase 9, apoptosis-related cysteine peptidase							63.0	62.0	62.0					1																	15832565		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15832565G>T	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.640C>A	1.37:g.15832565G>T	ENSP00000330237:p.Leu214Met					CASP9_ENST00000333868.5_Missense_Mutation_p.L214M|CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000348549.5_Intron	p.L214M			P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	5	884	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	214					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.640C>A	CCDS158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.46|13.46	2.244376|2.244376	0.39697|0.39697	.|.	.|.	ENSG00000132906|ENSG00000132906	ENST00000424908|ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522	.|T;T;T;T	.|0.20463	.|2.07;2.07;2.07;2.07	5.1|5.1	1.91|1.91	0.25777|0.25777	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	.|2.094920	.|0.01550	.|N	.|0.019639	T|T	0.32315|0.32315	0.0825|0.0825	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44478	.|0.774;0.836	.|P;P	.|0.52217	.|0.637;0.693	T|T	0.17018|0.17018	-1.0383|-1.0383	5|10	.|0.48119	.|T	.|0.1	.|.	6.7094|6.7094	0.23268|0.23268	0.0:0.1671:0.4634:0.3695|0.0:0.1671:0.4634:0.3695	.|.	.|214;214	.|P55211;F8VVS7	.|CASP9_HUMAN;.	D|M	55|214;214;58;131;131	.|ENSP00000449584:L214M;ENSP00000330237:L214M;ENSP00000365051:L131M;ENSP00000396540:L131M	.|ENSP00000330237:L214M	A|L	-|-	2|1	0|2	CASP9|CASP9	15705152|15705152	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.015000|0.015000	0.08874|0.08874	-0.298000|-0.298000	0.08265|0.08265	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.577	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		10	349	1	0	1.08611e-07	1	1.12939e-07	10	349				
UROS	7390	broad.mit.edu	37	10	127503679	127503679	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127503679G>A	ENST00000368797.4	-	4	392	c.168C>T	c.(166-168)taC>taT	p.Y56Y	UROS_ENST00000368778.3_Silent_p.Y56Y|UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368774.1_Silent_p.Y56Y	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	56					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TGAGTCCCCCGTAATCTTCAG	0.438																																						ENST00000368778.3																			0				endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7						c.(166-168)taC>taT		uroporphyrinogen III synthase							86.0	85.0	85.0					10																	127503679		2203	4300	6503	SO:0001819	synonymous_variant	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127503679G>A	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.168C>T	10.37:g.127503679G>A						UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368797.4_Silent_p.Y56Y|UROS_ENST00000368774.1_Silent_p.Y56Y	p.Y56Y			P10746	HEM4_HUMAN			4	361	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	56					B2RC13|D3DRF7|Q9H2T1	Silent	SNP	ENST00000368797.4	37	c.168C>T	CCDS7648.1																																																																																				0.438	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375		30	169	0	0	0	1	0	30	169				
CDC25B	994	broad.mit.edu	37	20	3785572	3785572	+	Silent	SNP	C	C	T	rs514521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3785572C>T	ENST00000245960.5	+	16	2404	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	CDC25B_ENST00000439880.2_Silent_p.S555S|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	569					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGGAGCGGAGCCGGCGGGAGC	0.647																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1705-1707)agC>agT		cell division cycle 25B							43.0	46.0	45.0					20																	3785572		2203	4300	6503	SO:0001819	synonymous_variant	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3785572C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1707C>T	20.37:g.3785572C>T						CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Silent_p.S555S	p.S569S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			16	2404	+			569					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	37	c.1707C>T	CCDS13067.1																																																																																				0.647	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		65	392	0	0	0	1	0	65	392				
LRRC7	57554	broad.mit.edu	37	1	70541910	70541910	+	Silent	SNP	C	C	A	rs199872098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70541910C>A	ENST00000035383.5	+	22	4297	c.4267C>A	c.(4267-4269)Cgg>Agg	p.R1423R	LRRC7_ENST00000310961.5_Silent_p.R1381R|LRRC7_ENST00000415775.2_Silent_p.R707R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1423						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCACCCGGGGACCTCA	0.473																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4141-4143)Cgg>Agg		leucine rich repeat containing 7							83.0	83.0	83.0					1																	70541910		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541910C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4267C>A	1.37:g.70541910C>A						LRRC7_ENST00000035383.5_Silent_p.R1423R|LRRC7_ENST00000415775.2_Silent_p.R707R	p.R1381R			Q96NW7	LRRC7_HUMAN			24	4559	+			1423					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4141C>A	CCDS645.1																																																																																				0.473	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		18	440	1	0	3.51602e-12	1	3.76992e-12	18	440				
COL1A1	1277	broad.mit.edu	37	17	48264896	48264896	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264896G>T	ENST00000225964.5	-	46	3490	c.3372C>A	c.(3370-3372)ggC>ggA	p.G1124G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1124	Triple-helical region.		G -> C (in OI2). {ECO:0000269|PubMed:7961597}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CACCAGGAGAGCCCTGAAGGA	0.587			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3370-3372)ggC>ggA		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						62.0	56.0	58.0					17																	48264896		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264896G>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3372C>A	17.37:g.48264896G>T							p.G1124G	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			46	3490	-			1124		G -> C (in OI2A).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.3372C>A	CCDS11561.1																																																																																				0.587	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			28	133	1	0	1.39806e-14	1	1.52044e-14	28	133				
STAT6	6778	broad.mit.edu	37	12	57499303	57499303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499303G>A	ENST00000300134.3	-	8	1085	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	STAT6_ENST00000538913.2_Missense_Mutation_p.R144W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W|STAT6_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W|STAT6_ENST00000556155.1_Missense_Mutation_p.R254W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	254					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGCGATGCCCGGGTCTTGGGC	0.617																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(760-762)Cgg>Tgg		signal transducer and activator of transcription 6, interleukin-4 induced							44.0	48.0	46.0					12																	57499303		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499303G>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.760C>T	12.37:g.57499303G>A	ENSP00000300134:p.Arg254Trp					STAT6_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000538913.2_Missense_Mutation_p.R144W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W|STAT6_ENST00000556155.1_Missense_Mutation_p.R254W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W	p.R254W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			8	1085	-			254					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.760C>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039745	0.35989	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.19	3.33	0.38152	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.207808	0.33515	N	0.004828	T	0.55337	0.1914	N	0.22421	0.69	0.37815	D	0.928196	D;D	0.69078	0.997;0.983	P;P	0.54815	0.761;0.545	T	0.60311	-0.7288	10	0.72032	D	0.01	-18.7629	6.2986	0.21099	0.0923:0.0:0.7261:0.1816	.	254;254	A8K4S9;P42226	.;STAT6_HUMAN	W	254;144;144;254;254;144;254;144;254	ENSP00000300134:R254W;ENSP00000445409:R144W;ENSP00000438451:R254W;ENSP00000451742:R254W;ENSP00000444530:R144W;ENSP00000401486:R254W	ENSP00000300134:R254W	R	-	1	2	STAT6	55785570	0.990000	0.36364	1.000000	0.80357	0.005000	0.04900	2.916000	0.48813	0.749000	0.32854	-0.140000	0.14226	CGG		0.617	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		33	153	0	0	0	1	0	33	153				
EYS	346007	broad.mit.edu	37	6	66063454	66063454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063454G>T	ENST00000370621.3	-	9	1882	c.1356C>A	c.(1354-1356)taC>taA	p.Y452*	EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000503581.1_Nonsense_Mutation_p.Y452*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	452					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATGAATTAGGTAAACATTCT	0.368																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1354-1356)taC>taA		eyes shut homolog (Drosophila)							116.0	105.0	109.0					6																	66063454		2203	4300	6503	SO:0001587	stop_gained	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063454G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1356C>A	6.37:g.66063454G>T	ENSP00000359655:p.Tyr452*					EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*|EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370621.3_Nonsense_Mutation_p.Y452*	p.Y452*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			9	1893	-			452					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37	c.1356C>A		.	.	.	.	.	.	.	.	.	.	g	36	5.640997	0.96693	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.14	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.5793	0.07946	0.3058:0.0:0.6942:0.0	.	.	.	.	X	452	.	ENSP00000341818:Y452X	Y	-	3	2	EYS	66120175	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.467000	0.22035	1.855000	0.53841	0.591000	0.81541	TAC		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		59	300	1	0	1.19403e-26	1	1.3775e-26	59	300				
PCDH10	57575	broad.mit.edu	37	4	134073073	134073073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073073C>T	ENST00000264360.5	+	1	2604	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	593	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGCCCCGCTCGGCGGAGCCG	0.657																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1777-1779)tCg>tTg		protocadherin 10							20.0	23.0	22.0					4																	134073073		2081	4169	6250	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073073C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1778C>T	4.37:g.134073073C>T	ENSP00000264360:p.Ser593Leu						p.S593L	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2604	+			593			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1778C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829921	0.50845	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.39997	1.05	4.5	4.5	0.54988	Cadherin (2);Cadherin-like (1);	0.000000	0.40144	N	0.001165	T	0.34745	0.0908	L	0.41236	1.265	0.49299	D	0.999777	P;B	0.38455	0.632;0.258	B;B	0.34346	0.18;0.076	T	0.19224	-1.0312	10	0.34782	T	0.22	.	17.0032	0.86386	0.0:1.0:0.0:0.0	.	593;593	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	593	ENSP00000264360:S593L	ENSP00000264360:S593L	S	+	2	0	PCDH10	134292523	0.000000	0.05858	1.000000	0.80357	0.413000	0.31143	0.592000	0.23984	2.325000	0.78763	0.655000	0.94253	TCG		0.657	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		71	273	0	0	0	1	0	71	273				
CACNA1C	775	broad.mit.edu	37	12	2717701	2717701	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2717701C>A	ENST00000347598.4	+	28	3441	c.3441C>A	c.(3439-3441)tcC>tcA	p.S1147S	CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399655.1_Silent_p.S1127S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1147	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATCGACTCCCACACGGAAG	0.552																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3379-3381)tcC>tcA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						68.0	63.0	64.0					12																	2717701		2203	4300	6503	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2717701C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3441C>A	12.37:g.2717701C>A						CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000347598.4_Silent_p.S1147S|CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S	p.S1127S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	27	3646	+			1147			Dihydropyridine binding (By similarity).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.3381C>A	CCDS44788.1																																																																																				0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		25	75	1	0	1.10923e-09	1	1.16946e-09	25	75				
INPP5E	56623	broad.mit.edu	37	9	139324245	139324245	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139324245G>T	ENST00000371712.3	-	10	2219	c.1817C>A	c.(1816-1818)gCt>gAt	p.A606D		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AAATTTGCCAGCTGCCAACGG	0.582																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1816-1818)gCt>gAt		inositol polyphosphate-5-phosphatase, 72 kDa							78.0	81.0	80.0					9																	139324245		2203	4300	6503	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139324245G>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1817C>A	9.37:g.139324245G>T	ENSP00000360777:p.Ala606Asp						p.A606D	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	10	2219	-		Myeloproliferative disorder(178;0.0511)	606					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.1817C>A	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511380	0.85389	.	.	ENSG00000148384	ENST00000371712	D	0.97941	-4.62	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.935	D	0.99466	1.0944	10	0.72032	D	0.01	-15.3769	16.6228	0.84934	0.0:0.0:1.0:0.0	.	572;606	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	D	606	ENSP00000360777:A606D	ENSP00000360777:A606D	A	-	2	0	INPP5E	138444066	1.000000	0.71417	0.920000	0.36463	0.744000	0.42396	8.104000	0.89551	2.599000	0.87857	0.651000	0.88453	GCT		0.582	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		10	302	1	0	2.74318e-10	1	2.90674e-10	10	302				
RYR1	6261	broad.mit.edu	37	19	38956988	38956988	+	Missense_Mutation	SNP	G	G	A	rs374776563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38956988G>A	ENST00000359596.3	+	24	3128	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1043H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1043H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1043	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.		R -> C (in MHS1). {ECO:0000269|PubMed:19191329}.|R -> H (in MHS1; unknown pathological significance). {ECO:0000269|PubMed:23558838}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAGGCCGTGCGCACCCTCCTG	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3127-3129)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	HIS/ARG,HIS/ARG	0,4376		0,0,2188	25.0	24.0	24.0		3128,3128	2.9	1.0	19		24	3,8569		0,3,4283	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	29,29	0,3,6471	AA,AG,GG		0.035,0.0,0.0232	probably-damaging,probably-damaging	1043/5039,1043/5034	38956988	3,12945	2188	4286	6474	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38956988G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3128G>A	19.37:g.38956988G>A	ENSP00000352608:p.Arg1043His					RYR1_ENST00000360985.3_Missense_Mutation_p.R1043H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1043H	p.R1043H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3259	+	all_cancers(60;7.91e-06)		1043		R -> C (in MHS1).	6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3128G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	17.85	3.491232	0.64074	0.0	3.5E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92595	-3.07;-3.07;-3.07	2.94	2.94	0.34122	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.96056	0.8715	M	0.86651	2.83	0.50813	D	0.999898	D;D	0.89917	1.0;1.0	D;D	0.79784	0.978;0.993	D	0.96693	0.9512	10	0.72032	D	0.01	.	14.7726	0.69691	0.0:0.0:1.0:0.0	.	1043;1043	P21817-2;P21817	.;RYR1_HUMAN	H	1043	ENSP00000352608:R1043H;ENSP00000347667:R1043H;ENSP00000354254:R1043H	ENSP00000347667:R1043H	R	+	2	0	RYR1	43648828	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.451000	0.97610	1.988000	0.58038	0.444000	0.29173	CGC		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	54	0	0	0	1	0	15	54				
MAP1A	4130	broad.mit.edu	37	15	43816999	43816999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816999G>A	ENST00000300231.5	+	4	3778	c.3328G>A	c.(3328-3330)Ggc>Agc	p.G1110S	MAP1A_ENST00000382031.1_Missense_Mutation_p.G1348S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1110					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGCCCACAGGCCCAATTCT	0.507																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4042-4044)Ggc>Agc		microtubule-associated protein 1A	Estramustine(DB01196)						75.0	79.0	78.0					15																	43816999		1926	4110	6036	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816999G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3328G>A	15.37:g.43816999G>A	ENSP00000300231:p.Gly1110Ser					MAP1A_ENST00000300231.5_Missense_Mutation_p.G1110S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S	p.G1348S			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4073	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1110					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4042G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047335	0.19827	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.94	3.02	0.34903	.	.	.	.	.	T	0.02119	0.0066	M	0.65975	2.015	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.50276	-0.8847	9	0.09084	T	0.74	-0.3322	3.4006	0.07321	0.1578:0.1335:0.5714:0.1373	.	1110	P78559	MAP1A_HUMAN	S	1348;1110;1110	ENSP00000371462:G1348S;ENSP00000382380:G1110S;ENSP00000300231:G1110S	ENSP00000300231:G1110S	G	+	1	0	MAP1A	41604291	0.039000	0.19947	0.144000	0.22314	0.531000	0.34715	2.172000	0.42463	1.315000	0.45114	0.655000	0.94253	GGC		0.507	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		83	414	0	0	0	1	0	83	414				
CCT3	7203	broad.mit.edu	37	1	156279038	156279038	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156279038G>A	ENST00000295688.3	-	14	1870	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_ENST00000472765.2_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000368261.3_Silent_p.G485G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	530					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTGGTCATCGCCTTTCTTTT	0.527																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1588-1590)ggC>ggT		chaperonin containing TCP1, subunit 3 (gamma)							115.0	118.0	117.0					1																	156279038		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156279038G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1590C>T	1.37:g.156279038G>A						CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000472765.2_Silent_p.G485G	p.G530G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			14	1870	-	Hepatocellular(266;0.158)		530					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.1590C>T	CCDS1140.2																																																																																				0.527	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		152	657	0	0	0	1	0	152	657				
IDO2	169355	broad.mit.edu	37	8	39873093	39873093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39873093T>C	ENST00000389060.4	+	10	1196	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.L412S			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	399					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GATAAGACCTTGGAGTCAATC	0.567																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(1234-1236)tTg>tCg		indoleamine 2,3-dioxygenase 2							101.0	99.0	100.0					8																	39873093		1971	4152	6123	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39873093T>C	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1196T>C	8.37:g.39873093T>C	ENSP00000426447:p.Leu399Ser					IDO2_ENST00000389060.4_Missense_Mutation_p.L399S|IDO2_ENST00000343295.4_3'UTR	p.L412S	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			11	1477	+			399					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.1235T>C		.	.	.	.	.	.	.	.	.	.	T	7.742	0.701517	0.15172	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.46819	0.86;0.86	5.93	1.95	0.26073	.	0.356037	0.26700	N	0.022959	T	0.28764	0.0713	L	0.36672	1.1	0.09310	N	1	B;B	0.16802	0.019;0.013	B;B	0.12837	0.005;0.008	T	0.09487	-1.0672	9	.	.	.	.	1.7147	0.02899	0.2668:0.0793:0.1567:0.4972	.	412;399	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	S	412;399	ENSP00000443432:L412S;ENSP00000426447:L399S	.	L	+	2	0	IDO2	39992250	0.009000	0.17119	0.005000	0.12908	0.014000	0.08584	0.496000	0.22499	0.455000	0.26910	0.533000	0.62120	TTG		0.567	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		78	383	0	0	0	1	0	78	383				
CAD	790	broad.mit.edu	37	2	27456554	27456554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27456554C>A	ENST00000403525.1	+	20	3232	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CAD_ENST00000264705.4_Missense_Mutation_p.L1093M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTATGTGCTGAGCGGTGC	0.592																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3277-3279)Ctg>Atg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						69.0	71.0	71.0					2																	27456554		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456554C>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3088C>A	2.37:g.27456554C>A	ENSP00000384510:p.Leu1030Met					CAD_ENST00000403525.1_Missense_Mutation_p.L1030M	p.L1093M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			21	3439	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1093			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3277C>A		.	.	.	.	.	.	.	.	.	.	C	28.9	4.956543	0.92726	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97976	-4.64;-4.64	5.95	5.95	0.96441	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98818	1.0746	10	0.87932	D	0	-1.0788	18.9357	0.92584	0.0:1.0:0.0:0.0	.	1030;1093	F8VPD4;P27708	.;PYR1_HUMAN	M	1093;1030	ENSP00000264705:L1093M;ENSP00000384510:L1030M	ENSP00000264705:L1093M	L	+	1	2	CAD	27310058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.908000	0.48750	2.826000	0.97356	0.491000	0.48974	CTG		0.592	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			79	353	1	0	9.61239e-26	1	1.10474e-25	79	353				
PAK4	10298	broad.mit.edu	37	19	39667313	39667313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667313G>A	ENST00000593690.1	+	9	1870	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000599386.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCCCTACTGGATGGCCCCAG	0.647																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(982-984)tgG>tgA		p21 protein (Cdc42/Rac)-activated kinase 4							99.0	105.0	103.0					19																	39667313		2203	4300	6503	SO:0001587	stop_gained	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39667313G>A	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1443G>A	19.37:g.39667313G>A	ENSP00000469413:p.Trp481*					PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000593690.1_Nonsense_Mutation_p.W481*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*	p.W328*	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		7	1165	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		481			Protein kinase.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Nonsense_Mutation	SNP	ENST00000593690.1	37	c.984G>A	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	39	7.304802	0.98200	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5385	0.76021	0.0:0.0:1.0:0.0	.	.	.	.	X	481;328;285;237;481;481	.	ENSP00000326864:W328X	W	+	3	0	PAK4	44359153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.591000	0.98241	2.521000	0.84997	0.650000	0.86243	TGG		0.647	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			199	796	0	0	0	1	0	199	796				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		9	243	0	0	0	1	0	9	243				
C1S	716	broad.mit.edu	37	12	7177578	7177578	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177578C>A	ENST00000406697.1	+	15	2318	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	C1S_ENST00000402681.3_Missense_Mutation_p.L397M|C1S_ENST00000328916.3_Missense_Mutation_p.L564M|C1S_ENST00000360817.5_Missense_Mutation_p.L564M			P09871	C1S_HUMAN	complement component 1, s subcomponent	564	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGATGGGGACCTGGGACTGAT	0.552																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1690-1692)Ctg>Atg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						52.0	49.0	50.0					12																	7177578		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177578C>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1690C>A	12.37:g.7177578C>A	ENSP00000385035:p.Leu564Met					C1S_ENST00000360817.5_Missense_Mutation_p.L564M|C1S_ENST00000328916.3_Missense_Mutation_p.L564M|C1S_ENST00000402681.3_Missense_Mutation_p.L397M	p.L564M			P09871	C1S_HUMAN			15	2318	+			564			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1690C>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040696	0.35989	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.16	2.35	0.29111	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.252645	0.20722	N	0.086888	T	0.73442	0.3587	N	0.12569	0.235	0.09310	N	0.999995	B	0.24882	0.113	B	0.26770	0.073	T	0.57763	-0.7755	10	0.16420	T	0.52	.	3.5999	0.08020	0.1378:0.5849:0.1332:0.1441	.	564	P09871	C1S_HUMAN	M	564;564;564;558;397	ENSP00000385035:L564M;ENSP00000328173:L564M;ENSP00000354057:L564M;ENSP00000384171:L397M	ENSP00000328173:L564M	L	+	1	2	C1S	7047839	0.044000	0.20184	0.241000	0.24154	0.018000	0.09664	0.253000	0.18296	0.330000	0.23485	0.561000	0.74099	CTG		0.552	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		47	144	1	0	1.23103e-26	1	1.41986e-26	47	144				
APCDD1L	164284	broad.mit.edu	37	20	57036492	57036492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57036492G>A	ENST00000371149.3	-	4	1090	c.860C>T	c.(859-861)tCg>tTg	p.S287L	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	287						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(859-861)tCg>tTg		adenomatosis polyposis coli down-regulated 1-like							10.0	10.0	10.0					20																	57036492		2164	4254	6418	SO:0001583	missense	164284					integral to membrane		g.chr20:57036492G>A	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.860C>T	20.37:g.57036492G>A	ENSP00000360191:p.Ser287Leu					APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L|APCDD1L_ENST00000491015.1_5'UTR	p.S287L	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1090	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		287						Missense_Mutation	SNP	ENST00000371149.3	37	c.860C>T	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441587	0.04604	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.18174	2.23;2.23	4.44	2.01	0.26516	.	1.721060	0.02886	N	0.133503	T	0.13756	0.0333	L	0.29908	0.895	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.08055	0.003;0.002	T	0.23619	-1.0183	10	0.23302	T	0.38	-1.2958	6.7257	0.23355	0.1959:0.1501:0.654:0.0	.	298;287	F5H6V6;Q8NCL9	.;APCDL_HUMAN	L	287;298	ENSP00000360191:S287L;ENSP00000413261:S298L	ENSP00000360191:S287L	S	-	2	0	APCDD1L	56469898	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	1.772000	0.38552	0.830000	0.34757	0.563000	0.77884	TCG		0.687	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		14	63	0	0	0	1	0	14	63				
ZNF701	55762	broad.mit.edu	37	19	53086349	53086349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086349G>T	ENST00000540331.1	+	5	1460	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I|ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGACATAGGAGAATTCACACT	0.408																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1234-1236)aGa>aTa		zinc finger protein 701							92.0	94.0	93.0					19																	53086349		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086349G>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1235G>T	19.37:g.53086349G>T	ENSP00000444339:p.Arg412Ile					ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I	p.R412I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1460	+			346					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1235G>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382750	0.25031	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.24908	1.83;1.83;1.83	1.87	-2.88	0.05682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35480	0.0933	M	0.81341	2.54	0.09310	N	1	P;D	0.60575	0.619;0.988	B;P	0.56514	0.094;0.8	T	0.25537	-1.0129	9	0.45353	T	0.12	.	0.9989	0.01473	0.2602:0.1741:0.3898:0.1759	.	412;346	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	346;412;412	ENSP00000375662:R346I;ENSP00000301093:R412I;ENSP00000444339:R412I	ENSP00000301093:R412I	R	+	2	0	ZNF701	57778161	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-4.934000	0.00168	-0.245000	0.09625	-0.530000	0.04314	AGA		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		125	529	1	0	8.41509e-73	1	1.07079e-72	125	529				
ANO7	50636	broad.mit.edu	37	2	242155543	242155543	+	Missense_Mutation	SNP	G	G	A	rs545708893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242155543G>A	ENST00000274979.8	+	19	2127	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	675					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTCCGGCTTCGCTCCAAGAAG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		3913	0.0		0.0	False		,,,				2504	0.001					ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(2023-2025)cGc>cAc		anoctamin 7							62.0	70.0	68.0					2																	242155543		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242155543G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2024G>A	2.37:g.242155543G>A	ENSP00000274979:p.Arg675His					ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	p.R675H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			19	2127	+			675					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.2024G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067185	0.20067	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64260	-0.09;-0.09	3.2	-1.18	0.09617	.	.	.	.	.	T	0.53238	0.1784	M	0.66506	2.035	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47522	-0.9111	9	0.44086	T	0.13	.	4.0495	0.09788	0.3427:0.343:0.3142:0.0	.	675	Q6IWH7	ANO7_HUMAN	H	675;674	ENSP00000274979:R675H;ENSP00000385418:R674H	ENSP00000274979:R675H	R	+	2	0	ANO7	241804216	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	-1.133000	0.03232	-0.258000	0.09446	-0.363000	0.07495	CGC		0.577	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		89	397	0	0	0	1	0	89	397				
AQR	9716	broad.mit.edu	37	15	35196597	35196597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35196597C>A	ENST00000156471.5	-	19	2166	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	647					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CATACACATCCTCTGCTCCAT	0.328																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1939-1941)gaG>gaT		aquarius intron-binding spliceosomal factor							104.0	95.0	98.0					15																	35196597		1805	4065	5870	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35196597C>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1941G>T	15.37:g.35196597C>A	ENSP00000156471:p.Glu647Asp						p.E647D	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	19	2166	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	647					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1941G>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780978	0.31502	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94138	-3.36	5.26	1.72	0.24424	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	L	0.33710	1.025	0.40691	D	0.982397	B	0.12630	0.006	B	0.16289	0.015	T	0.76080	-0.3090	10	0.22109	T	0.4	-18.8299	7.9653	0.30095	0.0:0.3197:0.0:0.6803	.	647	O60306	AQR_HUMAN	D	647	ENSP00000156471:E647D	ENSP00000156471:E647D	E	-	3	2	AQR	32983889	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.569000	0.45973	0.413000	0.25759	-0.302000	0.09304	GAG		0.328	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		45	247	1	0	2.58029e-29	1	3.0132e-29	45	247				
IL33	90865	broad.mit.edu	37	9	6250583	6250583	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6250583G>A	ENST00000381434.3	+	2	214	c.201G>A	c.(199-201)agG>agA	p.R67R	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Silent_p.R67R	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	67	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CCACCAAAAGGCCTTCACTGA	0.408																																						ENST00000381434.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(199-201)agG>agA		interleukin 33							87.0	84.0	85.0					9																	6250583		2203	4300	6503	SO:0001819	synonymous_variant	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6250583G>A	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.201G>A	9.37:g.6250583G>A						IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Silent_p.R67R	p.R67R	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	2	214	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	67					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Silent	SNP	ENST00000381434.3	37	c.201G>A	CCDS6468.1																																																																																				0.408	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		68	233	0	0	0	1	0	68	233				
LDLRAD3	143458	broad.mit.edu	37	11	36248778	36248778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36248778C>T	ENST00000315571.5	+	5	619	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R151W|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	200					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCAGCGGAAGCGGAACAACCT	0.617																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(598-600)Cgg>Tgg		low density lipoprotein receptor class A domain containing 3							78.0	70.0	73.0					11																	36248778		2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36248778C>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.598C>T	11.37:g.36248778C>T	ENSP00000318607:p.Arg200Trp					LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R151W|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W|LDLRAD3_ENST00000529759.1_3'UTR	p.R200W	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			5	619	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	200					B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.598C>T	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218315	0.79464	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.95690	-3.78;-3.77;-3.6	5.07	1.95	0.26073	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.36672	1.1	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.99	D	0.94432	0.7650	10	0.49607	T	0.09	.	13.9673	0.64216	0.4149:0.5851:0.0:0.0	.	190;151;200	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	W	151;190;200	ENSP00000433954:R151W;ENSP00000434313:R190W;ENSP00000318607:R200W	ENSP00000318607:R200W	R	+	1	2	LDLRAD3	36205354	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	2.100000	0.41777	0.489000	0.27749	0.655000	0.94253	CGG		0.617	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		18	448	0	0	0	1	0	18	448				
MFSD6L	162387	broad.mit.edu	37	17	8702270	8702270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8702270G>T	ENST00000329805.4	-	1	397	c.169C>A	c.(169-171)Cta>Ata	p.L57I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	57						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCAGCGATTAGGTGCTTGGTT	0.657																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(169-171)Cta>Ata		major facilitator superfamily domain containing 6-like							50.0	57.0	55.0					17																	8702270		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8702270G>T	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.169C>A	17.37:g.8702270G>T	ENSP00000330051:p.Leu57Ile						p.L57I	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	397	-			57					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.169C>A	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798281	0.70567	.	.	ENSG00000185156	ENST00000329805	D	0.84442	-1.85	4.47	3.42	0.39159	Major facilitator superfamily domain, general substrate transporter (1);	0.222943	0.29369	N	0.012358	D	0.86707	0.5997	M	0.70595	2.14	0.33418	D	0.57947	D	0.64830	0.994	D	0.66716	0.946	D	0.83921	0.0301	10	0.09338	T	0.73	-9.7704	3.8006	0.08757	0.1738:0.2465:0.5797:0.0	.	57	Q8IWD5	MFS6L_HUMAN	I	57	ENSP00000330051:L57I	ENSP00000330051:L57I	L	-	1	2	MFSD6L	8642995	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	2.524000	0.45589	2.302000	0.77476	0.655000	0.94253	CTA		0.657	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		69	302	1	0	9.07738e-34	1	1.07712e-33	69	302				
EVPL	2125	broad.mit.edu	37	17	74013961	74013961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74013961C>A	ENST00000301607.3	-	14	1822	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	523	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTTCTGGGCCTGTGGGTTGG	0.677																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1567-1569)caG>caT		envoplakin							43.0	47.0	45.0					17																	74013961		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74013961C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1569G>T	17.37:g.74013961C>A	ENSP00000301607:p.Gln523His					EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	p.Q523H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			14	1822	-			523			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1569G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703153	0.30232	.	.	ENSG00000167880	ENST00000301607	T	0.68181	-0.31	4.88	0.285	0.15705	.	0.177195	0.49916	N	0.000121	T	0.50240	0.1604	L	0.51914	1.62	0.34965	D	0.752622	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.40213	-0.9575	10	0.22706	T	0.39	-33.1096	4.0054	0.09598	0.3073:0.4617:0.0:0.231	.	545;523	B7ZLH8;Q92817	.;EVPL_HUMAN	H	523	ENSP00000301607:Q523H	ENSP00000301607:Q523H	Q	-	3	2	EVPL	71525556	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.576000	0.23744	0.584000	0.29591	-0.226000	0.12346	CAG		0.677	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		42	329	1	0	2.00842e-17	1	2.21757e-17	42	329				
CCDC108	255101	broad.mit.edu	37	2	219884315	219884315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219884315C>T	ENST00000341552.5	-	20	3469	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1129						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAGAGGCGCCACAGGTG	0.612																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3385-3387)cGc>cAc		coiled-coil domain containing 108							41.0	43.0	42.0					2																	219884315		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219884315C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3386G>A	2.37:g.219884315C>T	ENSP00000340776:p.Arg1129His					CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H	p.R1129H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3469	-		Renal(207;0.0915)	1129					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.3386G>A	CCDS2430.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.035950|2.035950	0.35893|0.35893	.|.	.|.	ENSG00000181378|ENSG00000181378	ENST00000413871|ENST00000341552;ENST00000441968;ENST00000453220	.|T;T;T	.|0.05139	.|3.49;3.49;3.49	5.04|5.04	-1.92|-1.92	0.07618|0.07618	.|.	.|0.958231	.|0.08607	.|N	.|0.920538	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.14661|0.14661	0.345|0.345	0.37377|0.37377	D|D	0.911878|0.911878	.|B	.|0.26147	.|0.143	.|B	.|0.19391	.|0.025	T|T	0.35919|0.35919	-0.9769|-0.9769	5|10	.|0.39692	.|T	.|0.17	-5.0064|-5.0064	11.4139|11.4139	0.49941|0.49941	0.0:0.4375:0.0:0.5625|0.0:0.4375:0.0:0.5625	.|.	.|1129	.|Q6ZU64	.|CC108_HUMAN	T|H	38|1129	.|ENSP00000340776:R1129H;ENSP00000413377:R1129H;ENSP00000409117:R1129H	.|ENSP00000340776:R1129H	A|R	-|-	1|2	0|0	CCDC108|CCDC108	219592559|219592559	0.005000|0.005000	0.15991|0.15991	0.960000|0.960000	0.40013|0.40013	0.982000|0.982000	0.71751|0.71751	-0.237000|-0.237000	0.08990|0.08990	-0.636000|-0.636000	0.05524|0.05524	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		54	160	0	0	0	1	0	54	160				
MMRN2	79812	broad.mit.edu	37	10	88703541	88703541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703541C>T	ENST00000372027.5	-	6	1321	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	334					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AATTTGGTGTCCACATCGGCT	0.632																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1000-1002)Gac>Aac		multimerin 2							58.0	61.0	60.0					10																	88703541		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88703541C>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1000G>A	10.37:g.88703541C>T	ENSP00000361097:p.Asp334Asn						p.D334N	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1073	-			334					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1000G>A	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819059	0.50633	.	.	ENSG00000173269	ENST00000372027	T	0.69806	-0.43	5.06	3.19	0.36642	.	0.137298	0.44097	D	0.000491	T	0.61751	0.2372	M	0.65498	2.005	0.09310	N	1	P;P	0.52316	0.583;0.952	B;B	0.40636	0.144;0.335	T	0.57201	-0.7852	10	0.54805	T	0.06	-29.529	10.4158	0.44320	0.0:0.8491:0.0:0.1509	.	273;334	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	N	334	ENSP00000361097:D334N	ENSP00000361097:D334N	D	-	1	0	MMRN2	88693521	0.855000	0.29742	0.038000	0.18304	0.895000	0.52256	1.714000	0.37961	0.517000	0.28361	0.462000	0.41574	GAC		0.632	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		65	264	0	0	0	1	0	65	264				
SESN3	143686	broad.mit.edu	37	11	94924736	94924736	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924736A>G	ENST00000536441.1	-	3	510	c.174T>C	c.(172-174)cgT>cgC	p.R58R	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Silent_p.R58R|SESN3_ENST00000393234.1_Silent_p.R58R|SESN3_ENST00000537480.1_5'UTR	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	58					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GAAAGTTAGTACGTTCATCCA	0.383																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(172-174)cgT>cgC		sestrin 3							141.0	122.0	128.0					11																	94924736		2201	4298	6499	SO:0001819	synonymous_variant	143686				cell cycle arrest	nucleus		g.chr11:94924736A>G	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.174T>C	11.37:g.94924736A>G						RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000537480.1_5'UTR|SESN3_ENST00000416495.2_Silent_p.R58R|SESN3_ENST00000278499.2_5'UTR|SESN3_ENST00000393234.1_Silent_p.R58R	p.R58R	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	510	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	58					B7Z7P9|Q96AD1	Silent	SNP	ENST00000536441.1	37	c.174T>C	CCDS8303.1																																																																																				0.383	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		61	279	0	0	0	1	0	61	279				
PKDREJ	10343	broad.mit.edu	37	22	46656713	46656713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46656713G>T	ENST00000253255.5	-	1	2506	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	836	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCTGATAGAGATTCTATTAC	0.353																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(2506-2508)tCt>tAt		polycystin (PKD) family receptor for egg jelly							65.0	67.0	66.0					22																	46656713		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46656713G>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2507C>A	22.37:g.46656713G>T	ENSP00000253255:p.Ser836Tyr						p.S836Y	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2506	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	836			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.2507C>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424952	0.43020	.	.	ENSG00000130943	ENST00000253255	T	0.36699	1.24	5.18	3.0	0.34707	Egg jelly receptor, REJ-like (1);	0.806157	0.10979	N	0.612902	T	0.30665	0.0772	L	0.50333	1.59	0.09310	N	1	P	0.42620	0.785	B	0.41691	0.364	T	0.31779	-0.9931	10	0.59425	D	0.04	-10.9169	2.5692	0.04790	0.1803:0.1451:0.5255:0.1492	.	836	Q9NTG1	PKDRE_HUMAN	Y	836	ENSP00000253255:S836Y	ENSP00000253255:S836Y	S	-	2	0	PKDREJ	45035377	0.005000	0.15991	0.003000	0.11579	0.153000	0.21895	0.800000	0.27042	1.260000	0.44134	0.561000	0.74099	TCT		0.353	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		40	160	1	0	1.22674e-20	1	1.37621e-20	40	160				
CREB3L2	64764	broad.mit.edu	37	7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565290C>T	ENST00000330387.6	-	12	1846	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	499					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCAGTTTGGCGCTGACCCTG	0.458			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1495-1497)Gcc>Acc		cAMP responsive element binding protein 3-like 2							124.0	97.0	106.0					7																	137565290		2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137565290C>T	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1495G>A	7.37:g.137565290C>T	ENSP00000329140:p.Ala499Thr						p.A499T	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			12	1846	-			499					Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.1495G>A	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264711	0.40095	.	.	ENSG00000182158	ENST00000330387	T	0.57752	0.38	5.3	-7.39	0.01402	.	1.247950	0.05251	N	0.514033	T	0.26412	0.0645	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07195	-1.0785	10	0.12766	T	0.61	-0.4631	9.9392	0.41570	0.1659:0.139:0.0:0.6951	.	499	Q70SY1	CR3L2_HUMAN	T	499	ENSP00000329140:A499T	ENSP00000329140:A499T	A	-	1	0	CREB3L2	137215830	0.672000	0.27530	0.318000	0.25279	0.994000	0.84299	-0.646000	0.05403	-2.087000	0.00862	-0.136000	0.14681	GCC		0.458	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		19	90	0	0	0	1	0	19	90				
LRSAM1	90678	broad.mit.edu	37	9	130230041	130230041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130230041C>A	ENST00000323301.4	+	9	1155	c.551C>A	c.(550-552)gCc>gAc	p.A184D	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	184					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACGCCTCGGCCATGGTCTAC	0.582																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(550-552)gCc>gAc		leucine rich repeat and sterile alpha motif containing 1							84.0	58.0	67.0					9																	130230041		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130230041C>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.551C>A	9.37:g.130230041C>A	ENSP00000322937:p.Ala184Asp					LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D	p.A184D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			9	1155	+			184					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.551C>A	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	7.081	0.570305	0.13560	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76448	0.7;-1.02;0.7;0.7	5.46	3.43	0.39272	.	0.945370	0.09009	N	0.861813	T	0.70894	0.3276	L	0.36672	1.1	0.31744	N	0.635413	B;B	0.20988	0.05;0.03	B;B	0.29176	0.099;0.022	T	0.65553	-0.6140	10	0.25751	T	0.34	-1.6772	11.3735	0.49713	0.0:0.6447:0.3553:0.0	.	184;184	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	184	ENSP00000300417:A184D;ENSP00000362421:A184D;ENSP00000322937:A184D;ENSP00000362419:A184D	ENSP00000300417:A184D	A	+	2	0	LRSAM1	129269862	0.940000	0.31905	0.781000	0.31783	0.142000	0.21351	1.837000	0.39201	1.252000	0.44001	0.561000	0.74099	GCC		0.582	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		26	66	1	0	3.00307e-07	1	3.1154e-07	26	66				
RPGRIP1	57096	broad.mit.edu	37	14	21788264	21788264	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21788264T>G	ENST00000400017.2	+	11	1395	c.1395T>G	c.(1393-1395)atT>atG	p.I465M	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I465M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	465					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGCCACAATTTCCCAACCTC	0.458																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1393-1395)atT>atG		retinitis pigmentosa GTPase regulator interacting protein 1							50.0	49.0	49.0					14																	21788264		1924	4135	6059	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21788264T>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1395T>G	14.37:g.21788264T>G	ENSP00000382895:p.Ile465Met					RPGRIP1_ENST00000400017.2_Missense_Mutation_p.I465M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M	p.I465M			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	11	1395	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	465					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1395T>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170421	0.21621	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.76060	-0.16;-0.94;-0.99;-0.99;-0.48	4.68	-2.0	0.07433	.	1.272670	0.04951	N	0.460368	T	0.64864	0.2637	L	0.54323	1.7	0.09310	N	0.999995	B;P;B	0.38250	0.015;0.624;0.306	B;B;B	0.38954	0.023;0.286;0.11	T	0.51710	-0.8671	10	0.35671	T	0.21	2.5688	0.4158	0.00448	0.1926:0.1991:0.2835:0.3248	.	107;81;465	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	M	438;438;465;465;107;132	ENSP00000450445:I438M;ENSP00000451219:I438M;ENSP00000382895:I465M;ENSP00000206660:I465M;ENSP00000372391:I107M	ENSP00000206660:I465M	I	+	3	3	RPGRIP1	20858104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.230000	0.09083	-0.325000	0.08577	-0.256000	0.11100	ATT		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		36	132	0	0	0	1	0	36	132				
AUTS2	26053	broad.mit.edu	37	7	70239029	70239029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70239029G>A	ENST00000342771.4	+	12	2167	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	616										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACCCTATCGATGTCGCTGC	0.488																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1846-1848)Gat>Aat		autism susceptibility candidate 2							127.0	100.0	109.0					7																	70239029		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70239029G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1846G>A	7.37:g.70239029G>A	ENSP00000344087:p.Asp616Asn					AUTS2_ENST00000406775.2_Intron	p.D616N	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	12	2167	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	616					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1846G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463611	0.84425	.	.	ENSG00000158321	ENST00000342771	T	0.35973	1.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.52011	1.625	0.80722	D	1	D;D	0.63880	0.966;0.993	P;P	0.52109	0.45;0.69	T	0.15694	-1.0428	9	.	.	.	-21.3555	19.609	0.95594	0.0:0.0:1.0:0.0	.	68;616	B4DLG0;Q8WXX7	.;AUTS2_HUMAN	N	616	ENSP00000344087:D616N	.	D	+	1	0	AUTS2	69876965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.408000	0.97327	2.882000	0.98803	0.655000	0.94253	GAT		0.488	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			45	199	0	0	0	1	0	45	199				
G2E3	55632	broad.mit.edu	37	14	31077197	31077197	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31077197C>T	ENST00000206595.6	+	12	1576	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	G2E3_ENST00000553504.1_Silent_p.C504C|G2E3_ENST00000438909.2_Silent_p.C428C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	474	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTAACTGCCTTGTTTATG	0.368																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1420-1422)tgC>tgT		G2/M-phase specific E3 ubiquitin protein ligase							135.0	123.0	127.0					14																	31077197		2203	4300	6503	SO:0001819	synonymous_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31077197C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1422C>T	14.37:g.31077197C>T						G2E3_ENST00000553504.1_Silent_p.C504C|G2E3_ENST00000438909.2_Silent_p.C428C	p.C474C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			12	1576	+			474			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Silent	SNP	ENST00000206595.6	37	c.1422C>T	CCDS9638.1																																																																																				0.368	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		80	411	0	0	0	1	0	80	411				
GRM6	2916	broad.mit.edu	37	5	178413731	178413731	+	Silent	SNP	G	G	A	rs150342590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413731G>A	ENST00000517717.1	-	9	1562	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G508G			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	508					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.G508G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGTGGGGGTCGCCAGACCACT	0.697													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15902	0.0		0.0	False		,,,				2504	0.0					ENST00000231188.5																			1	Substitution - coding silent(1)	p.G508G(1)	large_intestine(1)	NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1522-1524)ggC>ggT		glutamate receptor, metabotropic 6		G		0,4406		0,0,2203	29.0	32.0	31.0		1524	-4.6	0.0	5	dbSNP_134	31	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	GRM6	NM_000843.3		0,4,6498	AA,AG,GG		0.0465,0.0,0.0308		508/878	178413731	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413731G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1524C>T	5.37:g.178413731G>A						RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.G508G	p.G508G	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1702	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	508						Silent	SNP	ENST00000517717.1	37	c.1524C>T	CCDS4442.1																																																																																				0.697	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			34	255	0	0	0	1	0	34	255				
ARID4B	51742	broad.mit.edu	37	1	235359344	235359344	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359344A>G	ENST00000264183.3	-	18	2424		c.e18+1		ARID4B_ENST00000349213.3_Splice_Site|ARID4B_ENST00000366603.2_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)						histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACAAGCACTTACCTTTATTTT	0.294																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.e18+1		AT rich interactive domain 4B (RBP1-like)							115.0	111.0	113.0					1																	235359344		2200	4297	6497	SO:0001630	splice_region_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235359344A>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1926+1T>C	1.37:g.235359344A>G						ARID4B_ENST00000349213.3_Splice_Site|ARID4B_ENST00000366603.2_Splice_Site		NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		18	2424	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)						A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Splice_Site	SNP	ENST00000264183.3	37		CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391584	0.83011	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000444620;ENST00000439834	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4757	0.75478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARID4B	233425967	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.442000	0.90317	2.197000	0.70478	0.477000	0.44152	.		0.294	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	Intron	30	173	0	0	0	1	0	30	173				
NOP56	10528	broad.mit.edu	37	20	2636275	2636275	+	Silent	SNP	C	C	T	rs147425088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636275C>T	ENST00000329276.5	+	7	1308	c.792C>T	c.(790-792)atC>atT	p.I264I	SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORA51_ENST00000606420.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	264					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.I264I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGATAAACATCGAGAGCTTCT	0.498																																						ENST00000329276.5																			1	Substitution - coding silent(1)	p.I264I(1)	large_intestine(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(790-792)atC>atT		NOP56 ribonucleoprotein		C		4,4402	8.1+/-20.4	0,4,2199	157.0	151.0	153.0		792	-0.6	1.0	20	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	NOP56	NM_006392.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		264/595	2636275	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636275C>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.792C>T	20.37:g.2636275C>T							p.I264I	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			7	1308	+			264			Nop.		Q2M3T6|Q9NQ05	Silent	SNP	ENST00000329276.5	37	c.792C>T	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637467	0.14386	9.08E-4	0.0	ENSG00000101361	ENST00000415272	.	.	.	4.9	-0.592	0.11671	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	-15.8854	4.1248	0.10123	0.1696:0.339:0.0:0.4913	.	.	.	.	L	5	.	.	S	+	2	0	NOP56	2584275	0.809000	0.29036	0.998000	0.56505	0.992000	0.81027	-0.068000	0.11561	0.024000	0.15214	-0.258000	0.10820	TCG		0.498	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		113	477	0	0	0	1	0	113	477				
COL4A2	1284	broad.mit.edu	37	13	111164356	111164356	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111164356A>C	ENST00000360467.5	+	48	5263	c.4957A>C	c.(4957-4959)Aca>Cca	p.T1653P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1653	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTTCCGCGCCACACCATTCAT	0.627																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4957-4959)Aca>Cca		collagen, type IV, alpha 2							61.0	69.0	66.0					13																	111164356		2125	4245	6370	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111164356A>C	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4957A>C	13.37:g.111164356A>C	ENSP00000353654:p.Thr1653Pro						p.T1653P	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		48	5263	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1653			Collagen IV NC1.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4957A>C	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815592	0.50527	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94613	-3.47	4.91	4.91	0.64330	C-type lectin fold (1);	0.000000	0.53938	D	0.000060	D	0.97349	0.9133	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97832	1.0263	10	0.56958	D	0.05	.	14.5597	0.68126	1.0:0.0:0.0:0.0	.	1653	P08572	CO4A2_HUMAN	P	1653	ENSP00000353654:T1653P	ENSP00000257309:T1653P	T	+	1	0	COL4A2	109962357	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.969000	0.76092	1.833000	0.53350	0.459000	0.35465	ACA		0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		49	399	0	0	0	1	0	49	399				
PAK2	5062	broad.mit.edu	37	3	196541366	196541366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196541366C>A	ENST00000327134.3	+	11	1302	c.980C>A	c.(979-981)gCt>gAt	p.A327D		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAATACCTTGCTGGGGGGTCA	0.413																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(979-981)gCt>gAt		p21 protein (Cdc42/Rac)-activated kinase 2							163.0	159.0	160.0					3																	196541366		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196541366C>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.980C>A	3.37:g.196541366C>A	ENSP00000314067:p.Ala327Asp						p.A327D	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	11	1302	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		327			Protein kinase.		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.980C>A	CCDS3321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.038673|3.038673	0.55003|0.55003	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000327134|ENST00000426668	T|.	0.12672|.	2.66|.	5.85|5.85	4.97|4.97	0.65823|0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.046739|.	0.85682|.	N|.	0.000000|.	T|T	0.45518|0.45518	0.1346|0.1346	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	P|.	0.37500|.	0.597|.	B|.	0.35899|.	0.213|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|5	0.33141|.	T|.	0.24|.	.|.	16.3062|16.3062	0.82849|0.82849	0.1334:0.8666:0.0:0.0|0.1334:0.8666:0.0:0.0	.|.	327|.	Q13177|.	PAK2_HUMAN|.	D|M	327|70	ENSP00000314067:A327D|.	ENSP00000314067:A327D|.	A|L	+|+	2|1	0|2	PAK2|PAK2	198025763|198025763	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.928000|0.928000	0.56348|0.56348	7.463000|7.463000	0.80869|0.80869	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.413	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		149	637	1	0	1.5746e-79	1	2.01278e-79	149	637				
ZIM3	114026	broad.mit.edu	37	19	57646296	57646296	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646296T>G	ENST00000269834.1	-	5	1794	c.1409A>C	c.(1408-1410)cAc>cCc	p.H470P	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTATCTGGAGTGAATTCTTTT	0.423																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1408-1410)cAc>cCc		zinc finger, imprinted 3							104.0	103.0	103.0					19																	57646296		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646296T>G	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1409A>C	19.37:g.57646296T>G	ENSP00000269834:p.His470Pro						p.H470P	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1794	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	470					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1409A>C	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075839	0.36662	.	.	ENSG00000141946	ENST00000269834	T	0.10005	2.92	2.27	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	H	0.94542	3.55	0.26154	N	0.980096	P	0.46020	0.871	P	0.47891	0.56	T	0.15235	-1.0444	9	0.87932	D	0	.	5.3816	0.16194	0.0:0.0:0.2927:0.7073	.	470	Q96PE6	ZIM3_HUMAN	P	470	ENSP00000269834:H470P	ENSP00000269834:H470P	H	-	2	0	ZIM3	62338108	0.999000	0.42202	0.109000	0.21407	0.405000	0.30901	1.731000	0.38135	0.268000	0.21939	0.260000	0.18958	CAC		0.423	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			15	419	0	0	0	1	0	15	419				
DYNC1LI1	51143	broad.mit.edu	37	3	32571040	32571040	+	Missense_Mutation	SNP	T	T	C	rs373462716		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32571040T>C	ENST00000273130.4	-	11	1401	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.N317S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	433					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ACCTTTCATGTTTGGATCAAT	0.378																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(1297-1299)aAc>aGc		dynein, cytoplasmic 1, light intermediate chain 1							68.0	65.0	66.0					3																	32571040		2203	4300	6503	SO:0001583	missense	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32571040T>C	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1298A>G	3.37:g.32571040T>C	ENSP00000273130:p.Asn433Ser					DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.N317S	p.N433S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			11	1401	-			433					A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	c.1298A>G	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479274	0.44044	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.19394	2.15;2.15	6.17	6.17	0.99709	.	0.141137	0.64402	D	0.000007	T	0.19846	0.0477	L	0.48877	1.53	0.50813	D	0.999897	B;B	0.20550	0.046;0.002	B;B	0.22152	0.038;0.005	T	0.05903	-1.0857	10	0.23302	T	0.38	-24.0102	11.794	0.52088	0.0:0.0674:0.0:0.9326	.	317;433	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	433;317	ENSP00000273130:N433S;ENSP00000407279:N317S	ENSP00000273130:N433S	N	-	2	0	DYNC1LI1	32546044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.339000	0.65953	2.371000	0.80710	0.533000	0.62120	AAC		0.378	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		17	88	0	0	0	1	0	17	88				
ASCC3	10973	broad.mit.edu	37	6	101054895	101054895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101054895G>A	ENST00000369162.2	-	31	5199	c.4855C>T	c.(4855-4857)Cat>Tat	p.H1619Y		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1619	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCAGCATGATGCATTCCTATC	0.383																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4855-4857)Cat>Tat		activating signal cointegrator 1 complex subunit 3							105.0	96.0	99.0					6																	101054895		2202	4300	6502	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101054895G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4855C>T	6.37:g.101054895G>A	ENSP00000358159:p.His1619Tyr						p.H1619Y	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	31	5199	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1619			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4855C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923127	0.92319	.	.	ENSG00000112249	ENST00000369162	D	0.91843	-2.92	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93604	0.6933	10	0.21014	T	0.42	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1619	Q8N3C0	HELC1_HUMAN	Y	1619	ENSP00000358159:H1619Y	ENSP00000358159:H1619Y	H	-	1	0	ASCC3	101161616	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.693000	0.98684	2.753000	0.94483	0.585000	0.79938	CAT		0.383	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		49	230	0	0	0	1	0	49	230				
TMC8	147138	broad.mit.edu	37	17	76128508	76128508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76128508A>G	ENST00000318430.5	+	4	741	c.367A>G	c.(367-369)Agc>Ggc	p.S123G	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	123					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAACCTGCTGAGCCTGCTGCT	0.642																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(367-369)Agc>Ggc		transmembrane channel-like 8							49.0	37.0	41.0					17																	76128508		2200	4300	6500	SO:0001583	missense	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76128508A>G	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.367A>G	17.37:g.76128508A>G	ENSP00000325561:p.Ser123Gly					TMC8_ENST00000589691.1_5'UTR	p.S123G	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		4	741	+			123					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.367A>G	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465858	0.26335	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.55413	0.52	4.13	4.13	0.48395	.	0.610314	0.17676	N	0.165800	T	0.35128	0.0921	N	0.25245	0.725	0.39951	D	0.974545	B	0.21381	0.055	B	0.16722	0.016	T	0.30880	-0.9963	10	0.54805	T	0.06	-27.8647	6.1247	0.20172	0.8852:0.0:0.1148:0.0	.	123	Q8IU68	TMC8_HUMAN	G	123	ENSP00000325561:S123G	ENSP00000301627:S123G	S	+	1	0	TMC8	73640103	0.134000	0.22483	0.780000	0.31762	0.293000	0.27360	1.004000	0.29822	1.738000	0.51689	0.459000	0.35465	AGC		0.642	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			10	108	0	0	0	1	0	10	108				
SMARCC1	6599	broad.mit.edu	37	3	47651741	47651741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47651741C>T	ENST00000254480.5	-	26	2977	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	953					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGTCGTGCTCGTAATTCAGC	0.537																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2857-2859)cGa>cAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							300.0	265.0	276.0					3																	47651741		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47651741C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2858G>A	3.37:g.47651741C>T	ENSP00000254480:p.Arg953Gln					SMARCC1_ENST00000425518.1_5'UTR	p.R953Q	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	26	2977	-			953					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2858G>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934430	0.52866	.	.	ENSG00000173473	ENST00000254480	T	0.16597	2.33	6.06	5.19	0.71726	.	0.062950	0.64402	D	0.000016	T	0.32882	0.0844	M	0.75447	2.3	0.46078	D	0.99885	D	0.58268	0.982	P	0.51415	0.669	T	0.17992	-1.0351	10	0.87932	D	0	-11.0315	14.4989	0.67707	0.0:0.9302:0.0:0.0698	.	953	Q92922	SMRC1_HUMAN	Q	953	ENSP00000254480:R953Q	ENSP00000254480:R953Q	R	-	2	0	SMARCC1	47626745	1.000000	0.71417	0.868000	0.34077	0.009000	0.06853	4.547000	0.60712	1.571000	0.49722	-0.140000	0.14226	CGA		0.537	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			47	1101	0	0	0	1	0	47	1101				
SALL1	6299	broad.mit.edu	37	16	51174870	51174870	+	Silent	SNP	G	G	T	rs554599187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51174870G>T	ENST00000251020.4	-	2	1296	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Silent_p.A324A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	421					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTGGGCCAAGGCAGACAAGG	0.493																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126	GRCh37	CD054417	SALL1	D		c.(970-972)gcC>gcA		spalt-like transcription factor 1							101.0	102.0	102.0					16																	51174870		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174870G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1263C>A	16.37:g.51174870G>T						SALL1_ENST00000251020.4_Silent_p.A421A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.A324A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1403	-		all_cancers(37;0.0322)	421					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.972C>A	CCDS10747.1																																																																																				0.493	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		101	492	1	0	2.14978e-47	1	2.64632e-47	101	492				
STOM	2040	broad.mit.edu	37	9	124111572	124111572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124111572G>A	ENST00000286713.2	-	5	368	c.351C>T	c.(349-351)agC>agT	p.S117S	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S66S	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	117					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CACCATCCACGCTAATTGTCA	0.418																																						ENST00000286713.2																			0				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6						c.(349-351)agC>agT		stomatin							159.0	136.0	144.0					9																	124111572		2203	4300	6503	SO:0001819	synonymous_variant	2040				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	g.chr9:124111572G>A		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"""erythrocyte membrane protein band 7.2 (stomatin)"""	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.351C>T	9.37:g.124111572G>A						STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S66S	p.S117S	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	5	368	-			117					B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Silent	SNP	ENST00000286713.2	37	c.351C>T	CCDS6830.1																																																																																				0.418	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099		43	234	0	0	0	1	0	43	234				
OR1K1	392392	broad.mit.edu	37	9	125563013	125563013	+	Silent	SNP	C	C	T	rs201462124	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125563013C>T	ENST00000277309.2	+	1	644	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCACCGAGGGCGCCGCAGTGG	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		20184	0.002		0.0	False		,,,				2504	0.001					ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(610-612)ggC>ggT		olfactory receptor, family 1, subfamily K, member 1							80.0	68.0	72.0					9																	125563013		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563013C>T	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.612C>T	9.37:g.125563013C>T							p.G204G	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	644	+			204					B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	c.612C>T	CCDS35132.1																																																																																				0.637	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			82	328	0	0	0	1	0	82	328				
DDIT4	54541	broad.mit.edu	37	10	74034579	74034579	+	Missense_Mutation	SNP	C	C	T	rs143474945	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74034579C>T	ENST00000307365.3	+	3	533	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	111					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGGCTGGGCTCTCGACGCCCT	0.657											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3	0.000599042	0.0023	0.0	5008	,	,		16683	0.0		0.0	False		,,,				2504	0.0					ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(331-333)tCt>tTt		DNA-damage-inducible transcript 4		C	PHE/SER	9,4397	14.3+/-33.2	0,9,2194	64.0	70.0	68.0		332	4.0	1.0	10	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DDIT4	NM_019058.2	155	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	possibly-damaging	111/233	74034579	9,12997	2203	4300	6503	SO:0001583	missense	54541				apoptosis			g.chr10:74034579C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.332C>T	10.37:g.74034579C>T	ENSP00000307305:p.Ser111Phe		OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.S111F	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			3	533	+			111					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.332C>T	CCDS7315.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.53	2.862093	0.51482	0.002043	0.0	ENSG00000168209	ENST00000307365	T	0.47528	0.84	4.96	4.01	0.46588	.	0.296750	0.31884	N	0.006908	T	0.44644	0.1303	L	0.34521	1.04	0.40091	D	0.976251	P	0.42409	0.779	P	0.45946	0.498	T	0.52719	-0.8538	10	0.72032	D	0.01	-11.6794	14.2728	0.66162	0.0:0.8507:0.1493:0.0	.	111	Q9NX09	DDIT4_HUMAN	F	111	ENSP00000307305:S111F	ENSP00000307305:S111F	S	+	2	0	DDIT4	73704585	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	2.756000	0.47549	2.289000	0.77006	0.462000	0.41574	TCT		0.657	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		155	675	0	0	0	1	0	155	675				
TMEM140	55281	broad.mit.edu	37	7	134849279	134849279	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134849279T>C	ENST00000275767.3	+	2	309	c.86T>C	c.(85-87)tTt>tCt	p.F29S	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	29			F -> L (in dbSNP:rs292501). {ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TGCCTGATGTTTTACGCTCTT	0.562																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(85-87)tTt>tCt		transmembrane protein 140							165.0	144.0	151.0					7																	134849279		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849279T>C	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.86T>C	7.37:g.134849279T>C	ENSP00000275767:p.Phe29Ser					C7orf49_ENST00000459937.1_Intron	p.F29S	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	309	+			29		F -> L (in dbSNP:rs292501).			A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.86T>C	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	T	9.346	1.064210	0.20067	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.17854	2.25	5.68	4.5	0.54988	.	0.413393	0.23396	N	0.048631	T	0.17662	0.0424	L	0.53249	1.67	0.25660	N	0.98601	B	0.28783	0.222	B	0.30251	0.113	T	0.13308	-1.0514	10	0.40728	T	0.16	-26.4586	9.709	0.40233	0.0:0.0809:0.0:0.9191	.	29	Q9NV12	TM140_HUMAN	S	29	ENSP00000275767:F29S	ENSP00000275767:F29S	F	+	2	0	TMEM140	134499819	0.225000	0.23685	0.963000	0.40424	0.010000	0.07245	1.083000	0.30815	0.940000	0.37473	0.460000	0.39030	TTT		0.562	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		138	571	0	0	0	1	0	138	571				
ARID4B	51742	broad.mit.edu	37	1	235359427	235359427	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359427G>A	ENST00000264183.3	-	18	2342	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ARID4B_ENST00000349213.3_Silent_p.Y529Y|ARID4B_ENST00000366603.2_Silent_p.Y615Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	615					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCATTCATCGTATCTAAAAT	0.274																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1843-1845)taC>taT		AT rich interactive domain 4B (RBP1-like)							75.0	74.0	74.0					1																	235359427		2200	4293	6493	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235359427G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1845C>T	1.37:g.235359427G>A						ARID4B_ENST00000349213.3_Silent_p.Y529Y|ARID4B_ENST00000366603.2_Silent_p.Y615Y	p.Y615Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		18	2342	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	615					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.1845C>T	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107998	0.08780	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.45	-0.742	0.11108	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53968	-0.8363	4	.	.	.	-14.7718	10.9931	0.47561	0.5709:0.0:0.4291:0.0	.	.	.	.	M	15	.	.	T	-	2	0	ARID4B	233426050	0.998000	0.40836	0.998000	0.56505	0.652000	0.38707	0.752000	0.26362	-0.085000	0.12573	-0.482000	0.04802	ACG		0.274	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		30	189	0	0	0	1	0	30	189				
ZMYND8	23613	broad.mit.edu	37	20	45874915	45874915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45874915C>A	ENST00000311275.7	-	14	2314	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N	ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	687					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.K707N(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCAGTTTATCCTTTATGGGGT	0.507																																						ENST00000311275.7																			1	Substitution - Missense(1)	p.K707N(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2059-2061)aaG>aaT		zinc finger, MYND-type containing 8							201.0	183.0	189.0					20																	45874915		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45874915C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2061G>T	20.37:g.45874915C>A	ENSP00000312237:p.Lys687Asn					ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N	p.K687N			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2314	-			687					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2061G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.358130|2.358130	0.41801|0.41801	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.91|5.91	2.53|2.53	0.30540|0.30540	.|.	.|0.227351	.|0.44097	.|D	.|0.000491	.|T	.|0.54598	.|0.1868	M|M	0.69823|0.69823	2.125|2.125	0.40769|0.40769	D|D	0.98307|0.98307	.|P;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.47302	.|0.893;0.609;0.159;0.078;0.134;0.276;0.38;0.127;0.21;0.127;0.127;0.078;0.078;0.078;0.078;0.277;0.06;0.159	.|B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	.|0.46172	.|0.276;0.258;0.131;0.091;0.103;0.199;0.506;0.258;0.208;0.258;0.258;0.131;0.131;0.131;0.131;0.109;0.047;0.131	.|T	.|0.57106	.|-0.7868	.|10	.|0.34782	.|T	.|0.22	-17.7768|-17.7768	11.8262|11.8262	0.52269|0.52269	0.0:0.7249:0.0:0.2751|0.0:0.7249:0.0:0.2751	.|.	.|682;714;682;682;662;681;707;687;682;707;707;687;624;682;635;707;635;687	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	X|N	615|682;687;682;688;708;707;687;714;687;624;707;682;635	.|ENSP00000354166:K682N;ENSP00000312237:K687N;ENSP00000392964:K682N;ENSP00000335537:K707N;ENSP00000379577:K687N;ENSP00000439800:K714N;ENSP00000348246:K687N;ENSP00000396725:K624N;ENSP00000418210:K707N;ENSP00000361093:K682N;ENSP00000443086:K635N	.|ENSP00000262975:K688N	G|K	-|-	1|3	0|2	ZMYND8|ZMYND8	45308322|45308322	0.994000|0.994000	0.37717|0.37717	0.993000|0.993000	0.49108|0.49108	0.888000|0.888000	0.51559|0.51559	0.368000|0.368000	0.20399|0.20399	0.842000|0.842000	0.35045|0.35045	-0.137000|-0.137000	0.14449|0.14449	GGA|AAG		0.507	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		68	713	1	0	1.02487e-32	1	1.21166e-32	68	713				
SWAP70	23075	broad.mit.edu	37	11	9761736	9761736	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9761736G>T	ENST00000318950.6	+	9	1300	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	399					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGATCAGACAGCAGATGGAAG	0.493																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(1195-1197)caG>caT		SWAP switching B-cell complex 70kDa subunit							73.0	69.0	70.0					11																	9761736		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9761736G>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1197G>T	11.37:g.9761736G>T	ENSP00000315630:p.Gln399His					SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	p.Q399H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	9	1300	+			399					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.1197G>T	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494561	0.64186	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.20200	2.09;2.09	5.25	4.28	0.50868	.	0.189996	0.48286	D	0.000184	T	0.15825	0.0381	N	0.24115	0.695	0.51482	D	0.99992	P;P;P	0.50943	0.94;0.612;0.641	P;B;B	0.44732	0.459;0.172;0.259	T	0.01007	-1.1483	10	0.46703	T	0.11	-16.3576	9.916	0.41434	0.074:0.0:0.7874:0.1386	.	341;399;341	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	H	341;399	ENSP00000399056:Q341H;ENSP00000315630:Q399H	ENSP00000315630:Q399H	Q	+	3	2	SWAP70	9718312	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.051000	0.49885	2.445000	0.82738	0.591000	0.81541	CAG		0.493	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		39	162	1	0	4.14481e-20	1	4.63599e-20	39	162				
KIF15	56992	broad.mit.edu	37	3	44867540	44867540	+	Silent	SNP	C	C	T	rs146760782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867540C>T	ENST00000326047.4	+	21	2708	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	KIF15_ENST00000425755.1_Silent_p.N488N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	853					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGTTAGAAAACGAAAAGCTGC	0.308																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(2557-2559)aaC>aaT		kinesin family member 15		C		0,4404		0,0,2202	48.0	54.0	52.0		2559	0.4	1.0	3	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF15	NM_020242.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		853/1389	44867540	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44867540C>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2559C>T	3.37:g.44867540C>T						KIF15_ENST00000425755.1_Silent_p.N488N	p.N853N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	21	2708	+			853					Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	c.2559C>T	CCDS33744.1																																																																																				0.308	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			37	283	0	0	0	1	0	37	283				
TNFRSF1B	7133	broad.mit.edu	37	1	12251090	12251090	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12251090G>T	ENST00000376259.3	+	3	344	c.255G>T	c.(253-255)caG>caT	p.Q85H	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	85					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CATACACCCAGCTCTGGAACT	0.567																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(253-255)caG>caT		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						148.0	147.0	147.0					1																	12251090		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251090G>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.255G>T	1.37:g.12251090G>T	ENSP00000365435:p.Gln85His					TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H	p.Q85H	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	3	344	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	85					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.255G>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074733	0.36566	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.90788	-2.73;-2.73	4.1	4.1	0.47936	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.459943	0.22611	N	0.057824	D	0.88588	0.6477	L	0.47716	1.5	0.09310	N	0.999991	D	0.57571	0.98	P	0.47346	0.544	T	0.82744	-0.0306	10	0.54805	T	0.06	-3.5724	12.0529	0.53518	0.0:0.0:1.0:0.0	.	85	P20333	TNR1B_HUMAN	H	85	ENSP00000365435:Q85H;ENSP00000440425:Q85H	ENSP00000365435:Q85H	Q	+	3	2	TNFRSF1B	12173677	0.713000	0.27926	0.452000	0.26994	0.212000	0.24457	1.180000	0.32005	2.312000	0.78011	0.655000	0.94253	CAG		0.567	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		75	784	1	0	6.06247e-24	1	6.9123e-24	75	784				
NTRK3	4916	broad.mit.edu	37	15	88799241	88799241	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88799241C>T	ENST00000360948.2	-	2	305	c.144G>A	c.(142-144)ccG>ccA	p.P48P	NTRK3_ENST00000394480.2_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000317501.3_Silent_p.P48P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	48					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCCATCGTCCGGCCGCCGGC	0.547			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(142-144)ccG>ccA		neurotrophic tyrosine kinase, receptor, type 3							268.0	220.0	237.0					15																	88799241		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88799241C>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.144G>A	15.37:g.88799241C>T		TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P|NTRK3_ENST00000360948.2_Silent_p.P48P|NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000317501.3_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P	p.P48P	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	465	-			48					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.144G>A	CCDS32322.1																																																																																				0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				71	412	0	0	0	1	0	71	412				
EGFR	1956	broad.mit.edu	37	7	55249101	55249101	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55249101A>G	ENST00000275493.2	+	20	2576	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	EGFR_ENST00000455089.1_Missense_Mutation_p.D755G|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	800	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCTCCTGGACTATGTCCGG	0.602		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2398-2400)gAc>gGc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93.0	81.0	85.0					7																	55249101		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249101A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2399A>G	7.37:g.55249101A>G	ENSP00000275493:p.Asp800Gly	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G|EGFR_ENST00000455089.1_Missense_Mutation_p.D755G	p.D800G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2576	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		800			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2399A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740451	0.89573	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.65364	-0.15;-0.15;-0.15	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	L	0.49571	1.57	0.80722	D	1	P;D	0.89917	0.596;1.0	P;D	0.83275	0.464;0.996	T	0.77101	-0.2712	10	0.87932	D	0	.	15.1766	0.72916	1.0:0.0:0.0:0.0	.	755;800	Q504U8;P00533	.;EGFR_HUMAN	G	755;670;800;747	ENSP00000415559:D755G;ENSP00000275493:D800G;ENSP00000395243:D747G	ENSP00000275493:D800G	D	+	2	0	EGFR	55216595	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.303000	0.96183	2.255000	0.74692	0.533000	0.62120	GAC		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		75	311	0	0	0	1	0	75	311				
CYP2R1	120227	broad.mit.edu	37	11	14902107	14902107	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14902107T>G	ENST00000334636.5	-	3	621	c.575A>C	c.(574-576)aAt>aCt	p.N192T	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	192					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AATGATCAGATTGGTTATGTT	0.343																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(574-576)aAt>aCt		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						105.0	97.0	100.0					11																	14902107		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14902107T>G	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.575A>C	11.37:g.14902107T>G	ENSP00000334592:p.Asn192Thr					CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	p.N192T	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			3	621	-			192					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.575A>C	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008957	0.75046	.	.	ENSG00000186104	ENST00000334636	T	0.67345	-0.26	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	L	0.55213	1.73	0.80722	D	1	D;P	0.76494	0.999;0.736	D;P	0.85130	0.997;0.649	T	0.80915	-0.1169	10	0.87932	D	0	.	16.3196	0.82941	0.0:0.0:0.0:1.0	.	77;192	E9PS56;Q6VVX0	.;CP2R1_HUMAN	T	192	ENSP00000334592:N192T	ENSP00000334592:N192T	N	-	2	0	CYP2R1	14858683	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	5.167000	0.64972	2.248000	0.74166	0.459000	0.35465	AAT		0.343	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		52	247	0	0	0	1	0	52	247				
IL17C	27189	broad.mit.edu	37	16	88706264	88706264	+	Silent	SNP	C	C	T	rs375212710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706264C>T	ENST00000244241.4	+	3	427	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	126					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGCTGGCCTTCGCCGAGTGCC	0.667																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(376-378)ttC>ttT		interleukin 17C		C		1,4203		0,1,2101	24.0	30.0	28.0		378	-2.4	0.2	16		28	0,8432		0,0,4216	no	coding-synonymous	IL17C	NM_013278.3		0,1,6317	TT,TC,CC		0.0,0.0238,0.0079		126/198	88706264	1,12635	2102	4216	6318	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706264C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.378C>T	16.37:g.88706264C>T							p.F126F	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	427	+			126					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.378C>T	CCDS42217.1																																																																																				0.667	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		24	56	0	0	0	1	0	24	56				
TLE1	7088	broad.mit.edu	37	9	84205779	84205779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84205779G>T	ENST00000376499.3	-	16	2834	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	590					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGCAGCATGAGAAGCAGACCT	0.617																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1768-1770)ttC>ttA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							87.0	83.0	85.0					9																	84205779		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84205779G>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1770C>A	9.37:g.84205779G>T	ENSP00000365682:p.Phe590Leu						p.F590L	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			16	2834	-			590					A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1770C>A	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	g	32	5.149377	0.94645	.	.	ENSG00000196781	ENST00000376499	T	0.58060	0.36	5.96	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.043738	0.85682	D	0.000000	T	0.65688	0.2715	L	0.49571	1.57	0.80722	D	1	P;D;P	0.62365	0.887;0.991;0.624	P;D;P	0.70716	0.634;0.97;0.537	T	0.66830	-0.5824	10	0.87932	D	0	-24.4386	13.694	0.62567	0.1244:0.0:0.8756:0.0	.	575;616;590	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	L	590	ENSP00000365682:F590L	ENSP00000365682:F590L	F	-	3	2	TLE1	83395599	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.394000	0.52551	2.832000	0.97577	0.655000	0.94253	TTC		0.617	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		98	419	1	0	1.42366e-38	1	1.7169e-38	98	419				
CYP1B1	1545	broad.mit.edu	37	2	38298319	38298319	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298319C>A	ENST00000260630.3	-	3	1579	c.1178G>T	c.(1177-1179)aGc>aTc	p.S393I	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	393					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	AGGCACAAAGCTGGAGAAGCG	0.547																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(1177-1179)aGc>aTc		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						49.0	43.0	45.0					2																	38298319		2203	4298	6501	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38298319C>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1178G>T	2.37:g.38298319C>A	ENSP00000260630:p.Ser393Ile					CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I	p.S393I	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			3	1579	-		all_hematologic(82;0.21)	393					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.1178G>T	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240725	0.79912	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.80033	-1.33;-1.33	5.85	4.97	0.65823	.	0.255155	0.50627	D	0.000108	D	0.90109	0.6910	M	0.85859	2.78	0.45250	D	0.99825	D	0.76494	0.999	D	0.76575	0.988	D	0.91609	0.5301	10	0.87932	D	0	.	14.1707	0.65508	0.1509:0.8491:0.0:0.0	.	393	Q53TK1	.	I	393	ENSP00000260630:S393I;ENSP00000384972:S393I	ENSP00000260630:S393I	S	-	2	0	CYP1B1	38151823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.720000	0.61944	1.461000	0.47929	0.655000	0.94253	AGC		0.547	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		66	190	1	0	9.5628e-27	1	1.10398e-26	66	190				
TTN	7273	broad.mit.edu	37	2	179631200	179631200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179631200C>T	ENST00000591111.1	-	41	9835	c.9611G>A	c.(9610-9612)cGa>cAa	p.R3204Q	TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q			Q8WZ42	TITIN_HUMAN	titin	13534					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)			GATAAACATTCGGTGGATTCT	0.418																																						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.(9610-9612)cGa>cAa		titin							175.0	162.0	166.0					2																	179631200		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631200C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9611G>A	2.37:g.179631200C>T	ENSP00000465570:p.Arg3204Gln					TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN_ENST00000591111.1_Missense_Mutation_p.R3204Q	p.R3204Q	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)		41	9835	-			2937					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.9611G>A		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419283	0.62622	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77512	0.4141	L	0.58810	1.83	0.26641	N	0.972283	D;D;D;D;D	0.76494	0.997;0.997;0.997;0.997;0.999	P;P;P;P;D	0.63793	0.778;0.778;0.778;0.778;0.918	T	0.70799	-0.4774	9	0.87932	D	0	.	13.7635	0.62981	0.0:0.9263:0.0:0.0737	.	3158;3158;3158;3204;3204	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	3204;3158;3158;3158;3158;3204	ENSP00000343764:R3204Q;ENSP00000434586:R3158Q;ENSP00000340554:R3158Q;ENSP00000352154:R3158Q;ENSP00000354117:R3204Q	ENSP00000340554:R3158Q	R	-	2	0	TTN	179339445	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.659000	0.61504	2.625000	0.88918	0.591000	0.81541	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		91	506	0	0	0	1	0	91	506				
TTC12	54970	broad.mit.edu	37	11	113235728	113235728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113235728C>T	ENST00000529221.1	+	21	2093	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	TTC12_ENST00000314756.3_Missense_Mutation_p.A663V|TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	663										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAAGACGGCCGTGCAGGTG	0.562																																						ENST00000529221.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1987-1989)gCc>gTc		tetratricopeptide repeat domain 12							88.0	65.0	73.0					11																	113235728		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113235728C>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1988C>T	11.37:g.113235728C>T	ENSP00000433757:p.Ala663Val					TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000314756.3_Missense_Mutation_p.A663V	p.A663V	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	21	2093	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	663					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1988C>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718723	0.48622	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000483239	T;T;T	0.50277	0.75;0.75;0.75	5.78	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	1.215570	0.05388	N	0.538515	T	0.47192	0.1432	L	0.47190	1.495	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.38562	0.276;0.276	T	0.41142	-0.9525	10	0.52906	T	0.07	-7.9027	10.3699	0.44046	0.2592:0.6124:0.1284:0.0	.	663;663	A8K8G6;Q9H892	.;TTC12_HUMAN	V	663;663;669	ENSP00000433757:A663V;ENSP00000315160:A663V;ENSP00000419652:A669V	ENSP00000315160:A663V	A	+	2	0	TTC12	112740938	0.002000	0.14202	0.071000	0.20095	0.428000	0.31595	0.574000	0.23714	1.443000	0.47586	0.650000	0.86243	GCC		0.562	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		9	267	0	0	0	1	0	9	267				
CACNA1G	8913	broad.mit.edu	37	17	48703937	48703937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48703937G>A	ENST00000359106.5	+	38	6959	c.6959G>A	c.(6958-6960)gGt>gAt	p.G2320D	CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G2193D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2320					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGAGCCAAGGTCCTCGGACC	0.667											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6577-6579)gGt>gAt		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						17.0	22.0	21.0					17																	48703937		1842	4071	5913	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703937G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6959G>A	17.37:g.48703937G>A	ENSP00000352011:p.Gly2320Asp		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G2320D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D	p.G2193D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6950	+	Breast(11;6.7e-17)		2320					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.6578G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451879	0.43531	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.5	5.5	0.81552	.	0.838841	0.10943	N	0.617055	T	0.57417	0.2052	L	0.59436	1.845	0.35367	D	0.788757	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;P;P;D;D;P;D;D;D;D;D	0.89917	1.0;0.913;0.907;1.0;0.997;0.997;1.0;0.895;1.0;0.02;0.02;0.995;0.437;0.019;0.999;0.729;0.949;1.0;0.991;0.57;1.0;0.997;0.997;0.978;1.0	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;B;P;D;P;B;D;D;P;P;D	0.91635	0.998;0.517;0.722;0.999;0.947;0.96;0.999;0.652;0.999;0.012;0.012;0.948;0.119;0.012;0.971;0.334;0.829;0.998;0.889;0.25;0.998;0.947;0.907;0.719;0.997	T	0.61978	-0.6951	10	0.87932	D	0	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	2170;2182;2175;2257;2230;2202;2234;2193;2220;2137;2148;2249;2216;2309;2209;2264;2227;2297;2275;2193;2186;2241;2204;2320;2114	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	D	2204;2193;2286;2186;2249;2216;2182;2170;2175;2193;2275;2309;2230;2220;2241;2227;2202;2264;2234;2114;2320;2209;2257;2148;2137	ENSP00000353990:G2204D;ENSP00000339302:G2193D;ENSP00000347078:G2286D;ENSP00000409759:G2186D;ENSP00000425522:G2249D;ENSP00000426261:G2216D;ENSP00000425451:G2182D;ENSP00000422407:G2170D;ENSP00000426814:G2175D;ENSP00000427238:G2193D;ENSP00000423112:G2275D;ENSP00000420918:G2309D;ENSP00000426172:G2230D;ENSP00000423045:G2220D;ENSP00000427173:G2241D;ENSP00000426098:G2227D;ENSP00000425698:G2202D;ENSP00000426232:G2264D;ENSP00000423317:G2234D;ENSP00000350979:G2114D;ENSP00000352011:G2320D;ENSP00000414388:G2209D;ENSP00000423155:G2257D;ENSP00000422268:G2148D;ENSP00000421518:G2137D	ENSP00000339302:G2193D	G	+	2	0	CACNA1G	46058936	1.000000	0.71417	0.980000	0.43619	0.300000	0.27592	5.458000	0.66679	2.590000	0.87494	0.561000	0.74099	GGT		0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		18	94	0	0	0	1	0	18	94				
PAQR4	124222	broad.mit.edu	37	16	3021850	3021850	+	Silent	SNP	G	G	A	rs576724634		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021850G>A	ENST00000318782.8	+	3	1153	c.723G>A	c.(721-723)caG>caA	p.Q241Q	PAQR4_ENST00000574988.1_Silent_p.Q174Q|PAQR4_ENST00000576565.1_Silent_p.Q174Q|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Silent_p.Q167Q|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Silent_p.Q202Q	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	241						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTCCCACCAGATCATGCACC	0.677																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(721-723)caG>caA		progestin and adipoQ receptor family member IV							40.0	43.0	42.0					16																	3021850		2197	4300	6497	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021850G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.723G>A	16.37:g.3021850G>A						PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.Q202Q|PAQR4_ENST00000572687.1_Silent_p.Q167Q|PAQR4_ENST00000576565.1_Silent_p.Q174Q|PAQR4_ENST00000574988.1_Silent_p.Q174Q	p.Q241Q	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1153	+			241					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.723G>A	CCDS10485.1																																																																																				0.677	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		57	232	0	0	0	1	0	57	232				
SLC16A7	9194	broad.mit.edu	37	12	60169243	60169243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:60169243C>T	ENST00000261187.4	+	4	1331	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552432.1_Silent_p.G389G|SLC16A7_ENST00000552024.1_Silent_p.G389G	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	389					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTCTTCTTGGCCCTCCTCTTG	0.413																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(1165-1167)ggC>ggT		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						77.0	71.0	73.0					12																	60169243		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169243C>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1167C>T	12.37:g.60169243C>T						SLC16A7_ENST00000552024.1_Silent_p.G389G|SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552432.1_Silent_p.G389G	p.G389G	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	1331	+			389					Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1167C>T	CCDS8961.1																																																																																				0.413	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		48	300	0	0	0	1	0	48	300				
KISS1	3814	broad.mit.edu	37	1	204159862	204159862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204159862C>T	ENST00000367194.4	-	3	315	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	56					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		AGCTGGCTTCCTCTCGGTGCA	0.726																																						ENST00000367194.4																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(166-168)aGg>aAg		KiSS-1 metastasis-suppressor							9.0	11.0	10.0					1																	204159862		1448	3383	4831	SO:0001583	missense	3814				cytoskeleton organization	extracellular region	protein binding	g.chr1:204159862C>T	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.167G>A	1.37:g.204159862C>T	ENSP00000356162:p.Arg56Lys						p.R56K	NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)	3	315	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	56					A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	37	c.167G>A	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316310	0.10789	.	.	ENSG00000170498	ENST00000367194	T	0.79653	-1.29	4.13	-2.12	0.07165	.	1.205720	0.06169	N	0.677340	T	0.64505	0.2604	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.46762	-0.9168	10	0.06891	T	0.86	-0.7887	4.1234	0.10116	0.0:0.2389:0.3513:0.4098	.	56	Q15726	KISS1_HUMAN	K	56	ENSP00000356162:R56K	ENSP00000356162:R56K	R	-	2	0	KISS1	202426485	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.052000	0.11865	-0.284000	0.09102	-0.165000	0.13383	AGG		0.726	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		22	79	0	0	0	1	0	22	79				
SLIT1	6585	broad.mit.edu	37	10	98808726	98808726	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98808726T>G	ENST00000266058.4	-	14	1696	c.1451A>C	c.(1450-1452)aAg>aCg	p.K484T	SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	484	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACCGGAACTTCTTGCTCTT	0.652																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1450-1452)aAg>aCg		slit homolog 1 (Drosophila)							110.0	91.0	97.0					10																	98808726		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808726T>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1451A>C	10.37:g.98808726T>G	ENSP00000266058:p.Lys484Thr					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T	p.K484T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1696	-		Colorectal(252;0.162)	484			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1451A>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628289	0.87560	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;T	0.81739	-1.53;-1.52;0.71	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.81914	0.941;0.995	D	0.88106	0.2822	10	0.87932	D	0	.	15.1227	0.72457	0.0:0.0:0.0:1.0	.	494;484	E7EWQ8;O75093	.;SLIT1_HUMAN	T	484;494;484;477	ENSP00000266058:K484T;ENSP00000360109:K484T;ENSP00000315005:K477T	ENSP00000266058:K484T	K	-	2	0	SLIT1	98798716	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.151000	0.67156	0.455000	0.32223	AAG		0.652	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		112	517	0	0	0	1	0	112	517				
MYO10	4651	broad.mit.edu	37	5	16671030	16671030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16671030G>T	ENST00000513610.1	-	39	5942	c.5488C>A	c.(5488-5490)Ctt>Att	p.L1830I	MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1830	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGCAGCAAGAACCTGGAGG	0.572																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5488-5490)Ctt>Att		myosin X							37.0	43.0	41.0					5																	16671030		2032	4189	6221	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16671030G>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5488C>A	5.37:g.16671030G>T	ENSP00000421280:p.Leu1830Ile					MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I	p.L1830I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			39	5942	-			1830			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5488C>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939936	0.52972	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.94411	0.8202	M	0.85859	2.78	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.94752	0.7928	9	0.72032	D	0.01	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	709;1470;1830	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1830;1169;1187;1169;1187	ENSP00000421280:L1830I;ENSP00000425051:L1169I;ENSP00000274203:L1187I;ENSP00000421170:L1169I;ENSP00000391106:L1187I	ENSP00000274203:L1187I	L	-	1	0	MYO10	16724030	1.000000	0.71417	0.151000	0.22473	0.319000	0.28217	4.901000	0.63259	2.586000	0.87340	0.563000	0.77884	CTT		0.572	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		25	140	1	0	2.79863e-10	1	2.965e-10	25	140				
MEGF8	1954	broad.mit.edu	37	19	42857101	42857101	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42857101T>G	ENST00000251268.6	+	20	3372	c.3372T>G	c.(3370-3372)caT>caG	p.H1124Q	MEGF8_ENST00000334370.4_Missense_Mutation_p.H1057Q	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1124					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTGTGGCCATGGTGTGTGCA	0.682																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3169-3171)caT>caG		multiple EGF-like-domains 8							36.0	28.0	31.0					19																	42857101		2201	4294	6495	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42857101T>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.3372T>G	19.37:g.42857101T>G	ENSP00000251268:p.His1124Gln					MEGF8_ENST00000251268.6_Missense_Mutation_p.H1124Q	p.H1057Q	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			19	3806	+		Prostate(69;0.00682)	1124					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.3171T>G		.	.	.	.	.	.	.	.	.	.	T	14.13	2.442395	0.43326	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21932	1.98;1.99	5.41	-4.91	0.03085	Epidermal growth factor-like (1);	0.159391	0.42682	D	0.000661	T	0.11537	0.0281	N	0.21194	0.64	0.80722	D	1	P;B	0.34934	0.476;0.22	B;B	0.29267	0.1;0.042	T	0.01071	-1.1461	10	0.62326	D	0.03	-12.568	15.5599	0.76237	0.0:0.6235:0.0:0.3765	.	1124;1057	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Q	1057;1124	ENSP00000334219:H1057Q;ENSP00000251268:H1124Q	ENSP00000251268:H1124Q	H	+	3	2	MEGF8	47548941	0.020000	0.18652	0.953000	0.39169	0.823000	0.46562	-1.492000	0.02300	-0.873000	0.04032	-0.366000	0.07423	CAT		0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	34	0	0	0	1	0	7	34				
ZNF548	147694	broad.mit.edu	37	19	57910367	57910367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910367G>A	ENST00000366197.5	+	3	962	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.A250T|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGTACAGTGCCAATTTCAT	0.388																																						ENST00000366197.5																			0				breast(1)	1						c.(712-714)Gcc>Acc		zinc finger protein 548							48.0	49.0	49.0					19																	57910367		2145	4274	6419	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910367G>A	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.712G>A	19.37:g.57910367G>A	ENSP00000379482:p.Ala238Thr					AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.A250T|AC004076.7_ENST00000597410.1_Intron	p.A238T	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	962	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	238					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.712G>A	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119527	0.20877	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.15256	2.44;2.44	2.28	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	N	0.17248	0.465	0.09310	N	1	B;B	0.20988	0.05;0.03	B;B	0.23574	0.047;0.021	T	0.34453	-0.9828	9	0.48119	T	0.1	.	5.8219	0.18532	0.0:0.3077:0.2372:0.4551	.	250;238	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	T	250;238	ENSP00000337555:A250T;ENSP00000379482:A238T	ENSP00000337555:A250T	A	+	1	0	ZNF548	62602179	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-2.895000	0.00707	-0.209000	0.10156	0.655000	0.94253	GCC		0.388	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		49	199	0	0	0	1	0	49	199				
SHROOM2	357	broad.mit.edu	37	X	9863881	9863881	+	Missense_Mutation	SNP	C	C	T	rs374898048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9863881C>T	ENST00000380913.3	+	4	2023	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	645					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCAGAAGAGCCGGAGCACAGT	0.667																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(1933-1935)Cgg>Tgg		shroom family member 2		C	TRP/ARG	0,3828		0,0,1630,568	15.0	16.0	16.0		1933	-0.7	0.1	X		16	1,6713		0,1,2424,1864	no	missense	SHROOM2	NM_001649.2	101	0,1,4054,2432	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	645/1617	9863881	1,10541	2198	4289	6487	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863881C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1933C>T	X.37:g.9863881C>T	ENSP00000370299:p.Arg645Trp						p.R645W	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	2023	+		Hepatocellular(5;0.000888)	645					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1933C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797175	0.31777	0.0	1.49E-4	ENSG00000146950	ENST00000380913	T	0.49139	0.79	5.04	-0.677	0.11357	Apx/shroom, ASD1 (1);	0.744958	0.12658	N	0.449893	T	0.61211	0.2329	L	0.59436	1.845	0.34755	D	0.732147	D	0.76494	0.999	D	0.65987	0.94	T	0.70916	-0.4742	10	0.87932	D	0	-8.1434	14.1036	0.65072	0.4572:0.5428:0.0:0.0	.	645	Q13796	SHRM2_HUMAN	W	645	ENSP00000370299:R645W	ENSP00000370299:R645W	R	+	1	2	SHROOM2	9823881	0.846000	0.29590	0.060000	0.19600	0.043000	0.13939	1.833000	0.39161	-0.131000	0.11578	-0.315000	0.08773	CGG		0.667	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		26	104	0	0	0	1	0	26	104				
TMPRSS6	164656	broad.mit.edu	37	22	37462993	37462993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37462993C>A	ENST00000346753.3	-	17	2266	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.S730I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	717	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGAGCGTTGCTGATGGGGCC	0.562																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(2188-2190)aGc>aTc		transmembrane protease, serine 6							104.0	77.0	86.0					22																	37462993		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37462993C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2150G>T	22.37:g.37462993C>A	ENSP00000334962:p.Ser717Ile					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.S717I	p.S730I			Q8IU80	TMPS6_HUMAN			18	2329	-			717			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.2189G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647772	0.67358	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.85777	2.775	0.47123	D	0.999323	D;D	0.76494	0.998;0.999	D;D	0.77557	0.952;0.99	D	0.96516	0.9382	10	0.87932	D	0	.	18.1606	0.89707	0.0:1.0:0.0:0.0	.	730;717	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	I	730;717;708;730	ENSP00000371211:S730I;ENSP00000334962:S717I;ENSP00000385453:S708I;ENSP00000384964:S730I	ENSP00000334962:S717I	S	-	2	0	TMPRSS6	35792939	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	3.654000	0.54453	2.267000	0.75376	0.591000	0.81541	AGC		0.562	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		39	187	1	0	6.2361e-21	1	7.00342e-21	39	187				
ABCA7	10347	broad.mit.edu	37	19	1043394	1043394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043394G>A	ENST00000263094.6	+	9	1083	c.852G>A	c.(850-852)tgG>tgA	p.W284*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W284*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W146*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	284					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGCTCTGGAGACGCCTGA	0.662																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(850-852)tgG>tgA		ATP-binding cassette, sub-family A (ABC1), member 7							53.0	64.0	60.0					19																	1043394		2203	4300	6503	SO:0001587	stop_gained	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043394G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.852G>A	19.37:g.1043394G>A	ENSP00000263094:p.Trp284*					ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W284*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W146*	p.W284*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1083	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	284					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	ENST00000263094.6	37	c.852G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	36	5.790066	0.96945	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	.	.	.	X	284	.	ENSP00000263094:W284X	W	+	3	0	ABCA7	994394	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.221000	0.78016	1.937000	0.56155	0.313000	0.20887	TGG		0.662	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		14	648	0	0	0	1	0	14	648				
ENSA	2029	broad.mit.edu	37	1	150598174	150598174	+	Silent	SNP	G	G	A	rs141017549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150598174G>A	ENST00000369014.5	-	3	419	c.294C>T	c.(292-294)ccC>ccT	p.P98P	ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361532.5_Silent_p.P94P|ENSA_ENST00000271690.8_Silent_p.P98P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000513281.1_Silent_p.P94P|ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000369016.4_Silent_p.P114P			O43768	ENSA_HUMAN	endosulfine alpha	98					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGTGGGGTGGGGATGTGAT	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18647	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(188;763 2078 3002 3411 26027)	ENST00000271690.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4						c.(292-294)ccC>ccT		endosulfine alpha		G	,,,,,,	11,4395	17.9+/-39.9	0,11,2192	108.0	92.0	97.0		294,342,342,294,330,282,282	3.4	1.0	1	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ENSA	NM_004436.2,NM_207042.1,NM_207043.1,NM_207044.1,NM_207045.1,NM_207046.1,NM_207047.1	,,,,,,	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	,,,,,,	98/122,114/138,114/134,98/118,110/134,94/118,94/114	150598174	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	2029				cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	g.chr1:150598174G>A	X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.294C>T	1.37:g.150598174G>A						ENSA_ENST00000369016.4_Silent_p.P114P|ENSA_ENST00000361532.5_Silent_p.P94P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000369014.5_Silent_p.P98P|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000513281.1_Silent_p.P94P	p.P98P	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	400	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		98					A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Silent	SNP	ENST00000369014.5	37	c.294C>T	CCDS958.1																																																																																				0.567	ENSA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084720.2	NM_207042		10	295	0	0	0	1	0	10	295				
PIPSL	266971	broad.mit.edu	37	10	95720340	95720340	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720340G>T	ENST00000480546.1	-	0	957					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GACATCAAGAGGCTATAATCC	0.463																																						ENST00000480546.1																			0																																																			0							g.chr10:95720340G>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720340G>T								NR_002319.2						0	957	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.463	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		67	270	1	0	1.34159e-35	1	1.60235e-35	67	270				
ATRNL1	26033	broad.mit.edu	37	10	116925332	116925332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116925332G>T	ENST00000355044.3	+	7	1145	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	340					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATTTAGAAAGCAGTATATGG	0.323																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1018-1020)aGc>aTc		attractin-like 1							76.0	77.0	77.0					10																	116925332		2203	4298	6501	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116925332G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1019G>T	10.37:g.116925332G>T	ENSP00000347152:p.Ser340Ile					ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	p.S340I	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1145	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	340					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1019G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255337	0.80135	.	.	ENSG00000107518	ENST00000355044	T	0.68331	-0.32	5.65	4.69	0.59074	.	0.036729	0.85682	D	0.000000	T	0.77370	0.4120	M	0.65975	2.015	0.80722	D	1	P;D	0.61080	0.933;0.989	B;P	0.61201	0.441;0.885	T	0.79502	-0.1777	10	0.66056	D	0.02	-9.9627	13.3729	0.60723	0.0818:0.0:0.9182:0.0	.	340;340	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	I	340	ENSP00000347152:S340I	ENSP00000347152:S340I	S	+	2	0	ATRNL1	116915322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.321000	0.51999	1.253000	0.44018	0.650000	0.86243	AGC		0.323	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		31	176	1	0	1.06801e-11	1	1.14091e-11	31	176				
RPTOR	57521	broad.mit.edu	37	17	78681708	78681708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78681708G>A	ENST00000306801.3	+	4	778	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H|RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	139					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCTTACGTCGCAACGCCAAG	0.557																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(415-417)cGc>cAc		regulatory associated protein of MTOR, complex 1							70.0	60.0	63.0					17																	78681708		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78681708G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.416G>A	17.37:g.78681708G>A	ENSP00000307272:p.Arg139His					RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H	p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			4	778	+			139					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.416G>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570396	0.86542	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.53857	0.61;0.6	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.77896	0.4199	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.97	T	0.81344	-0.0975	10	0.54805	T	0.06	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	139;139	F5H7J5;Q8N122	.;RPTOR_HUMAN	H	139	ENSP00000307272:R139H;ENSP00000442479:R139H	ENSP00000307272:R139H	R	+	2	0	RPTOR	76296303	1.000000	0.71417	0.151000	0.22473	0.528000	0.34623	9.713000	0.98740	2.485000	0.83878	0.655000	0.94253	CGC		0.557	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		22	116	0	0	0	1	0	22	116				
GPR39	2863	broad.mit.edu	37	2	133402959	133402959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402959C>T	ENST00000329321.3	+	2	1611	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	381					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGCACTCCACCACCGACAGC	0.622																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1141-1143)aCc>aTc		G protein-coupled receptor 39							45.0	46.0	46.0					2																	133402959		2203	4299	6502	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402959C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1142C>T	2.37:g.133402959C>T	ENSP00000327417:p.Thr381Ile					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.T381I	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1611	+			381					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1142C>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566091	0.27915	.	.	ENSG00000183840	ENST00000329321	T	0.64991	-0.13	4.94	2.04	0.26737	.	3.978600	0.00610	N	0.000413	T	0.58250	0.2109	L	0.60455	1.87	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.16482	-1.0401	10	0.21540	T	0.41	.	6.3971	0.21618	0.1186:0.3915:0.4169:0.073	.	381	O43194	GPR39_HUMAN	I	381	ENSP00000327417:T381I	ENSP00000327417:T381I	T	+	2	0	GPR39	133119429	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	0.240000	0.21263	-0.219000	0.12488	ACC		0.622	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			103	302	0	0	0	1	0	103	302				
C19orf35	374872	broad.mit.edu	37	19	2280862	2280862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2280862C>T	ENST00000342063.3	-	2	162	c.69G>A	c.(67-69)acG>acA	p.T23T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	23										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTGCTATACGTGGGCTGAG	0.697																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(67-69)acG>acA		chromosome 19 open reading frame 35							25.0	26.0	25.0					19																	2280862		2199	4298	6497	SO:0001819	synonymous_variant	374872							g.chr19:2280862C>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.69G>A	19.37:g.2280862C>T							p.T23T	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	162	-			23						Silent	SNP	ENST00000342063.3	37	c.69G>A	CCDS12087.1																																																																																				0.697	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		31	112	0	0	0	1	0	31	112				
C21orf62	56245	broad.mit.edu	37	21	34166106	34166106	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34166106G>A	ENST00000536776.1	-	2	767	c.627C>T	c.(625-627)agC>agT	p.S209S	C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000479548.1_Silent_p.S209S|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000490358.1_Silent_p.S209S|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000487113.1_Silent_p.S209S	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	209										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				AGCTTTTGTTGCTTGGCATTG	0.378																																						ENST00000536776.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(625-627)agC>agT		chromosome 21 open reading frame 62							114.0	108.0	110.0					21																	34166106		1893	4112	6005	SO:0001819	synonymous_variant	56245							g.chr21:34166106G>A	AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.627C>T	21.37:g.34166106G>A						C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000490358.1_Silent_p.S209S|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000479548.1_Silent_p.S209S|C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000487113.1_Silent_p.S209S|C21orf49_ENST00000453404.1_Intron	p.S209S	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN			2	767	-		Myeloproliferative disorder(46;0.0255)	209					A8K4L8	Silent	SNP	ENST00000536776.1	37	c.627C>T	CCDS42919.2																																																																																				0.378	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139598.5	NM_019596		94	288	0	0	0	1	0	94	288				
COX20	116228	broad.mit.edu	37	1	245006387	245006387	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245006387G>T	ENST00000411948.2	+	4	659	c.266G>T	c.(265-267)aGa>aTa	p.R89I	HNRNPU-AS1_ENST00000475997.1_RNA|COX20_ENST00000366528.3_Missense_Mutation_p.R101I|HNRNPU-AS1_ENST00000489705.1_RNA|COX20_ENST00000498262.1_3'UTR	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	89						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											ATCCAGGAAAGAATTGCCAGA	0.318																																						ENST00000411948.2																			0											c.(265-267)aGa>aTa		COX20 cytochrome C oxidase assembly factor							35.0	43.0	40.0					1																	245006387		2190	4298	6488	SO:0001583	missense	116228					integral to membrane		g.chr1:245006387G>T	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.266G>T	1.37:g.245006387G>T	ENSP00000406327:p.Arg89Ile					COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Missense_Mutation_p.R101I	p.R89I	NM_198076.4	NP_932342.1	Q5RI15	FA36A_HUMAN			4	659	+			89					Q8WV86	Missense_Mutation	SNP	ENST00000411948.2	37	c.266G>T	CCDS31080.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259239	0.80246	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.63	5.63	0.86233	.	0.041393	0.85682	D	0.000000	T	0.78848	0.4348	M	0.83603	2.65	0.58432	D	0.999997	D	0.71674	0.998	D	0.66979	0.948	T	0.81441	-0.0931	9	0.72032	D	0.01	-26.0448	12.9433	0.58359	0.0741:0.0:0.9259:0.0	.	89	Q5RI15	FA36A_HUMAN	I	89;101	.	ENSP00000355486:R101I	R	+	2	0	FAM36A	243073010	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.314000	0.59166	2.646000	0.89796	0.557000	0.71058	AGA		0.318	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097174.1	NM_198076		6	198	1	0	0.000442599	1	0.000448314	6	198				
MKL1	57591	broad.mit.edu	37	22	40814828	40814828	+	Silent	SNP	C	C	T	rs373988834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40814828C>T	ENST00000355630.3	-	12	2204	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000396617.3_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	538					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGAGCATGCGCGTCAGCGCCT	0.706			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1612-1614)acG>acA		megakaryoblastic leukemia (translocation) 1		C		1,4399		0,1,2199	16.0	18.0	18.0		1614	-9.6	0.5	22		18	0,8586		0,0,4293	no	coding-synonymous	MKL1	NM_020831.3		0,1,6492	TT,TC,CC		0.0,0.0227,0.0077		538/932	40814828	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40814828C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1614G>A	22.37:g.40814828C>T						MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000355630.3_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T	p.T538T			Q969V6	MKL1_HUMAN			12	2204	-			538					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1614G>A	CCDS14003.1																																																																																				0.706	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		42	178	0	0	0	1	0	42	178				
GMEB1	10691	broad.mit.edu	37	1	29037105	29037105	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29037105A>C	ENST00000294409.2	+	9	1062	c.972A>C	c.(970-972)agA>agC	p.R324S	GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S|GMEB1_ENST00000373816.1_Missense_Mutation_p.R314S|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	324					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TAGACAACAGAAGGAACCAAG	0.393																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.(940-942)agA>agC		glucocorticoid modulatory element binding protein 1							191.0	169.0	177.0					1																	29037105		2203	4300	6503	SO:0001583	missense	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29037105A>C	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.972A>C	1.37:g.29037105A>C	ENSP00000294409:p.Arg324Ser					GMEB1_ENST00000294409.2_Missense_Mutation_p.R324S|GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S|GMEB1_ENST00000480454.1_3'UTR	p.R314S	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	9	1080	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	324					B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	c.942A>C	CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133479	0.56828	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.58940	0.3;0.3;0.3	5.38	-1.54	0.08584	.	0.049383	0.85682	D	0.000000	T	0.46034	0.1372	L	0.56769	1.78	0.20403	N	0.999907	P;P	0.39480	0.675;0.462	B;B	0.30943	0.122;0.063	T	0.45425	-0.9262	10	0.46703	T	0.11	-27.8777	13.9953	0.64392	0.2001:0.0:0.7999:0.0	.	324;314	Q9Y692;B1AT47	GMEB1_HUMAN;.	S	314;290;314;324	ENSP00000362922:R314S;ENSP00000355186:R314S;ENSP00000294409:R324S	ENSP00000294409:R324S	R	+	3	2	GMEB1	28909692	0.997000	0.39634	0.992000	0.48379	0.998000	0.95712	0.286000	0.18902	-0.280000	0.09154	0.529000	0.55759	AGA		0.393	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		90	364	0	0	0	1	0	90	364				
TANC1	85461	broad.mit.edu	37	2	160084456	160084456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160084456C>T	ENST00000263635.6	+	25	4267	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1344					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATTTGTCGCGATGCCGAAG	0.483																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4030-4032)Cga>Tga		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							95.0	96.0	96.0					2																	160084456		1912	4130	6042	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160084456C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4030C>T	2.37:g.160084456C>T	ENSP00000263635:p.Arg1344*					TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	p.R1344*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			25	4267	+			1344					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.4030C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	45	11.797480	0.99604	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6244	0.76840	0.3198:0.6802:0.0:0.0	.	.	.	.	X	1238;1344	.	.	R	+	1	2	TANC1	159792702	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	2.467000	0.45093	1.551000	0.49450	0.655000	0.94253	CGA		0.483	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			113	341	0	0	0	1	0	113	341				
PIGQ	9091	broad.mit.edu	37	16	633231	633231	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633231G>T	ENST00000026218.5	+	10	1968	c.1880G>T	c.(1879-1881)aGg>aTg	p.R627M	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	627					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGCCAGCCAGGCTGGCCGCA	0.642																																						ENST00000026218.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1879-1881)aGg>aTg		phosphatidylinositol glycan anchor biosynthesis, class Q							104.0	112.0	109.0					16																	633231		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633231G>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1880G>T	16.37:g.633231G>T	ENSP00000026218:p.Arg627Met					PIGQ_ENST00000321878.5_3'UTR	p.R627M	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN			10	1968	+		Hepatocellular(780;0.00335)	627					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1880G>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443129	0.25987	.	.	ENSG00000007541	ENST00000026218	T	0.23950	1.88	3.49	-1.56	0.08532	.	0.716622	0.12313	N	0.479982	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	D;B	0.55605	0.972;0.41	P;B	0.49047	0.599;0.146	T	0.15178	-1.0446	9	.	.	.	.	3.4154	0.07373	0.4076:0.2047:0.3877:0.0	.	197;627	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	M	627	ENSP00000026218:R627M	.	R	+	2	0	PIGQ	573232	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.537000	0.02206	-0.037000	0.13646	-0.513000	0.04457	AGG		0.642	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		42	1170	1	0	3.90053e-15	1	4.25374e-15	42	1170				
AP3B1	8546	broad.mit.edu	37	5	77458776	77458776	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77458776C>A	ENST00000255194.6	-	13	1406		c.e13-1		AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCACATAGGTCTAAAAGATAT	0.348									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.e13-1		adaptor-related protein complex 3, beta 1 subunit							88.0	86.0	87.0					5																	77458776		2203	4299	6502	SO:0001630	splice_region_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77458776C>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1231-1G>T	5.37:g.77458776C>A						AP3B1_ENST00000519295.1_Splice_Site		NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	13	1406	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)						E5RJ68|O00580|Q7Z393|Q9HD66	Splice_Site	SNP	ENST00000255194.6	37		CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543789	0.86022	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4768	0.87661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP3B1	77494532	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.783000	0.85696	2.728000	0.93425	0.650000	0.86243	.		0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		Intron	75	371	1	0	2.72187e-29	1	3.17825e-29	75	371				
TAS2R14	50840	broad.mit.edu	37	12	11091357	11091357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11091357G>A	ENST00000537503.1	-	1	505	c.450C>T	c.(448-450)atC>atT	p.I150I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	150					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTTATATGGATGTTTATCA	0.353																																						ENST00000537503.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(448-450)atC>atT		taste receptor, type 2, member 14							68.0	70.0	69.0					12																	11091357		2203	4300	6503	SO:0001819	synonymous_variant	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091357G>A	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.450C>T	12.37:g.11091357G>A						TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.I150I	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN			1	505	-			150					Q645X3	Silent	SNP	ENST00000537503.1	37	c.450C>T	CCDS8637.1																																																																																				0.353	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		66	296	0	0	0	1	0	66	296				
GPR139	124274	broad.mit.edu	37	16	20043299	20043299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043299C>A	ENST00000570682.1	-	2	1120	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	274					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.A274S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCAGAAGGGCTAGCATGTTG	0.552																																						ENST00000570682.1																			1	Substitution - Missense(1)	p.A274S(1)	lung(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(820-822)Gcc>Tcc		G protein-coupled receptor 139							88.0	89.0	89.0					16																	20043299		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043299C>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.820G>T	16.37:g.20043299C>A	ENSP00000458791:p.Ala274Ser						p.A274S	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1120	-			274					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.820G>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209851	0.79240	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63972	-0.6516	9	0.06365	T	0.9	-38.6886	19.1302	0.93402	0.0:1.0:0.0:0.0	.	274	Q6DWJ6	GP139_HUMAN	S	274	.	ENSP00000370779:A274S	A	-	1	0	GPR139	19950800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.754000	0.94517	0.655000	0.94253	GCC		0.552	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		124	401	1	0	6.25824e-51	1	7.76101e-51	124	401				
OR6X1	390260	broad.mit.edu	37	11	123624777	123624777	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624777G>A	ENST00000327930.2	-	1	476	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAATGGTGAAGCCCACCACCC	0.517																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(448-450)ggC>ggT		olfactory receptor, family 6, subfamily X, member 1							101.0	103.0	103.0					11																	123624777		2202	4299	6501	SO:0001819	synonymous_variant	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624777G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.450C>T	11.37:g.123624777G>A							p.G150G	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	476	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	150					B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	c.450C>T	CCDS31695.1																																																																																				0.517	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		65	347	0	0	0	1	0	65	347				
KIAA0226	9711	broad.mit.edu	37	3	197408180	197408180	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408180G>A	ENST00000296343.5	-	16	2249	c.2250C>T	c.(2248-2250)tgC>tgT	p.C750C	KIAA0226_ENST00000389665.5_Silent_p.C775C|KIAA0226_ENST00000273582.5_Silent_p.C705C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	750					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.C750*(1)|p.C705*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCTCGTGGCAGCACTGGC	0.527																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			2	Substitution - Nonsense(2)	p.C750*(1)|p.C705*(1)	lung(2)	NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2113-2115)tgC>tgT		KIAA0226							88.0	87.0	87.0					3																	197408180		2004	4190	6194	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408180G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2250C>T	3.37:g.197408180G>A						KIAA0226_ENST00000296343.5_Silent_p.C750C|KIAA0226_ENST00000389665.5_Silent_p.C775C	p.C705C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	17	2660	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		750					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.2115C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.39|10.39	1.337956|1.337956	0.24253|0.24253	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000413360	.|.	.|.	.|.	5.48|5.48	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|T	0.69531|0.69531	0.3121|0.3121	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67325|0.67325	-0.5699|-0.5699	4|4	.|.	.|.	.|.	.|.	14.4957|14.4957	0.67685|0.67685	0.0:0.0:0.8529:0.1471|0.0:0.0:0.8529:0.1471	.|.	.|.	.|.	.|.	V|S	534|712	.|.	.|.	A|P	-|-	2|1	0|0	KIAA0226|KIAA0226	198892577|198892577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.022000|4.022000	0.57203|0.57203	2.742000|2.742000	0.94016|0.94016	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.527	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		106	399	0	0	0	1	0	106	399				
PTCHD2	57540	broad.mit.edu	37	1	11561444	11561444	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561444C>T	ENST00000294484.6	+	2	533	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	132					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTTTGGATCCTGGGGGCGG	0.597																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(394-396)tCc>tTc		patched domain containing 2							40.0	42.0	42.0					1																	11561444		2051	4176	6227	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561444C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.395C>T	1.37:g.11561444C>T	ENSP00000294484:p.Ser132Phe					PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	p.S132F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	533	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	132					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.395C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979915	0.92982	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.25579	1.79;1.79	5.67	5.67	0.87782	.	0.116909	0.64402	D	0.000012	T	0.36853	0.0982	L	0.29908	0.895	0.53005	D	0.999964	D	0.62365	0.991	P	0.57502	0.822	T	0.09840	-1.0656	10	0.87932	D	0	-35.2713	18.751	0.91814	0.0:1.0:0.0:0.0	.	132	Q9P2K9	PTHD2_HUMAN	F	132	ENSP00000294484:S132F;ENSP00000374226:S132F	ENSP00000294484:S132F	S	+	2	0	PTCHD2	11484031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.623000	0.67757	2.666000	0.90696	0.561000	0.74099	TCC		0.597	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		50	159	0	0	0	1	0	50	159				
GDAP2	54834	broad.mit.edu	37	1	118455300	118455300	+	Nonsense_Mutation	SNP	G	G	A	rs200761394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118455300G>A	ENST00000369443.5	-	4	571	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	108	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TCACCTGTTCGGCACCCTGAA	0.398																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(322-324)Cga>Tga		ganglioside induced differentiation associated protein 2							108.0	100.0	103.0					1																	118455300		2203	4300	6503	SO:0001587	stop_gained	54834							g.chr1:118455300G>A	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.322C>T	1.37:g.118455300G>A	ENSP00000358451:p.Arg108*					GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	p.R108*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	4	571	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	108			Macro.		Q96DZ0	Nonsense_Mutation	SNP	ENST00000369443.5	37	c.322C>T	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844187	0.97016	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.9	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2636	14.3031	0.66368	0.0:0.0:0.6772:0.3228	.	.	.	.	X	108	.	ENSP00000358450:R108X	R	-	1	2	GDAP2	118256823	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.369000	0.66138	1.470000	0.48102	0.585000	0.79938	CGA		0.398	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		73	332	0	0	0	1	0	73	332				
COG7	91949	broad.mit.edu	37	16	23403772	23403772	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23403772G>A	ENST00000307149.5	-	16	2260	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	692					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATCACAGTAGGTCTGCATTGT	0.577																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2074-2076)aCc>aTc		component of oligomeric golgi complex 7							129.0	111.0	117.0					16																	23403772		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23403772G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2075C>T	16.37:g.23403772G>A	ENSP00000305442:p.Thr692Ile					COG7_ENST00000569635.1_Intron	p.T692I	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	16	2260	-			692					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.2075C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662772	0.67700	.	.	ENSG00000168434	ENST00000307149	T	0.42900	0.96	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53322	-0.8455	10	0.16420	T	0.52	-37.0723	18.2016	0.89840	0.0:0.0:1.0:0.0	.	692	P83436	COG7_HUMAN	I	692	ENSP00000305442:T692I	ENSP00000305442:T692I	T	-	2	0	COG7	23311273	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.013000	0.88655	2.534000	0.85438	0.484000	0.47621	ACC		0.577	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			68	252	0	0	0	1	0	68	252				
MLF2	8079	broad.mit.edu	37	12	6858017	6858017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6858017C>T	ENST00000203630.5	-	8	1335	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	231					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						CCCTGGATGGCCAGGCGGGGA	0.682																																						ENST00000203630.5																			0				kidney(2)|large_intestine(3)|lung(4)	9						c.(691-693)Gcc>Acc		myeloid leukemia factor 2							33.0	39.0	37.0					12																	6858017		2199	4290	6489	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6858017C>T	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.691G>A	12.37:g.6858017C>T	ENSP00000203630:p.Ala231Thr					MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T	p.A231T			Q15773	MLF2_HUMAN			8	1335	-			231						Missense_Mutation	SNP	ENST00000203630.5	37	c.691G>A	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048903	0.75846	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	5.08	0.68730	.	0.246438	0.40554	N	0.001074	T	0.44329	0.1288	N	0.24115	0.695	0.52501	D	0.999955	P	0.51791	0.948	P	0.45610	0.487	T	0.26677	-1.0096	9	0.17369	T	0.5	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	231	Q15773	MLF2_HUMAN	T	231	.	ENSP00000203630:A231T	A	-	1	0	MLF2	6728278	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	5.062000	0.64326	2.365000	0.80145	0.491000	0.48974	GCC		0.682	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			79	397	0	0	0	1	0	79	397				
FBXO45	200933	broad.mit.edu	37	3	196304505	196304505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196304505C>T	ENST00000311630.6	+	2	797	c.500C>T	c.(499-501)aCt>aTt	p.T167I	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	167	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTCTGGGCACTGTGGCAGTG	0.577																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(499-501)aCt>aTt		F-box protein 45							41.0	42.0	42.0					3																	196304505		1949	4144	6093	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196304505C>T	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.500C>T	3.37:g.196304505C>T	ENSP00000310332:p.Thr167Ile					FBXO45_ENST00000440469.1_5'UTR	p.T167I	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	2	797	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		167			B30.2/SPRY.		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.500C>T	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688765	0.88639	.	.	ENSG00000174013	ENST00000311630	T	0.60424	0.19	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.098281	0.64402	D	0.000001	D	0.82655	0.5084	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87388	0.2361	10	0.87932	D	0	-20.9781	18.4427	0.90673	0.0:1.0:0.0:0.0	.	167	P0C2W1	FBSP1_HUMAN	I	167	ENSP00000310332:T167I	ENSP00000310332:T167I	T	+	2	0	FBXO45	197788902	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.099000	0.76981	2.608000	0.88229	0.456000	0.33151	ACT		0.577	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			23	99	0	0	0	1	0	23	99				
RASGEF1C	255426	broad.mit.edu	37	5	179545622	179545622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179545622C>T	ENST00000393371.2	-	9	1366	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	357	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGGCTGCTGTGGGCCGT	0.672																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(1069-1071)aGc>aAc		RasGEF domain family, member 1C							38.0	47.0	44.0					5																	179545622		2202	4298	6500	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179545622C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1070G>A	5.37:g.179545622C>T	ENSP00000377037:p.Ser357Asn					RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N	p.S357N			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1366	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	357			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.1070G>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678280	0.47886	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.30981	1.51;1.51;1.51	4.18	3.31	0.37934	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.51422	1.61	0.49798	D	0.999829	B	0.29766	0.256	B	0.35607	0.206	T	0.16630	-1.0396	10	0.56958	D	0.05	.	11.3716	0.49702	0.0:0.9071:0.0:0.0929	.	357	Q8N431	RGF1C_HUMAN	N	357;357;206	ENSP00000354963:S357N;ENSP00000377037:S357N;ENSP00000429114:S206N	ENSP00000354963:S357N	S	-	2	0	RASGEF1C	179478228	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.189000	0.65098	1.064000	0.40671	0.313000	0.20887	AGC		0.672	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		103	473	0	0	0	1	0	103	473				
NECAP2	55707	broad.mit.edu	37	1	16775694	16775694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16775694G>A	ENST00000337132.5	+	5	577	c.487G>A	c.(487-489)Gca>Aca	p.A163T	NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T|NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T|NECAP2_ENST00000504551.2_Missense_Mutation_p.A102T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	163					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCAACATCGCAGTGAGTTC	0.532																																						ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(487-489)Gca>Aca		NECAP endocytosis associated 2							66.0	50.0	56.0					1																	16775694		2203	4300	6503	SO:0001583	missense	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16775694G>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.487G>A	1.37:g.16775694G>A	ENSP00000338746:p.Ala163Thr					NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T|NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T|NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000504551.2_Missense_Mutation_p.A102T	p.A163T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	5	577	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	163					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	c.487G>A	CCDS173.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216824	0.95104	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.44482	0.92;1.51;0.92;0.92;0.92;0.92	5.84	5.84	0.93424	.	0.047689	0.85682	D	0.000000	T	0.56232	0.1971	L	0.56769	1.78	0.51482	D	0.999926	D;D;D	0.63880	0.987;0.993;0.989	P;P;P	0.55871	0.748;0.786;0.773	T	0.53279	-0.8461	10	0.48119	T	0.1	-16.4034	17.6382	0.88129	0.0:0.0:1.0:0.0	.	137;163;163	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	T	163;102;137;163;163;163;163	ENSP00000338746:A163T;ENSP00000424509:A102T;ENSP00000407091:A137T;ENSP00000383925:A163T;ENSP00000391942:A163T;ENSP00000427620:A163T	ENSP00000263498:A163T	A	+	1	0	NECAP2	16648281	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	9.042000	0.93793	2.760000	0.94817	0.655000	0.94253	GCA		0.532	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		18	55	0	0	0	1	0	18	55				
WWC2	80014	broad.mit.edu	37	4	184192281	184192281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184192281T>C	ENST00000403733.3	+	16	2648	c.2449T>C	c.(2449-2451)Ttc>Ctc	p.F817L	WWC2_ENST00000448232.2_Missense_Mutation_p.F817L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L|WWC2_ENST00000504005.1_Missense_Mutation_p.F499L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	817					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGTGAGGTTTTCACTCTATG	0.363																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2449-2451)Ttc>Ctc		WW and C2 domain containing 2							47.0	46.0	47.0					4																	184192281		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184192281T>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2449T>C	4.37:g.184192281T>C	ENSP00000384222:p.Phe817Leu					WWC2_ENST00000448232.2_Missense_Mutation_p.F817L|WWC2_ENST00000504005.1_Missense_Mutation_p.F499L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L	p.F817L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	16	2648	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	817					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2449T>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	T	9.951	1.220036	0.22373	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.52	4.35	0.52113	C2 calcium/lipid-binding domain, CaLB (1);	0.313337	0.32204	N	0.006421	T	0.29976	0.0750	L	0.39898	1.24	0.80722	D	1	B;B;B	0.28933	0.228;0.011;0.002	B;B;B	0.30855	0.121;0.017;0.003	T	0.04509	-1.0946	10	0.10377	T	0.69	-14.1055	8.5657	0.33538	0.0:0.146:0.0:0.854	.	817;817;768	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	L	817;768;817;499	ENSP00000384222:F817L;ENSP00000425054:F768L;ENSP00000398577:F817L;ENSP00000427569:F499L	ENSP00000384222:F817L	F	+	1	0	WWC2	184429275	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	3.275000	0.51639	1.121000	0.41925	0.460000	0.39030	TTC		0.363	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		29	123	0	0	0	1	0	29	123				
TMPRSS15	5651	broad.mit.edu	37	21	19642312	19642312	+	Missense_Mutation	SNP	C	C	T	rs146494364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642312C>T	ENST00000284885.3	-	25	3067	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1012	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGTATCCATTCGGTAAACCTT	0.423																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(3034-3036)Gaa>Aaa		transmembrane protease, serine 15		C	LYS/GLU	0,4406		0,0,2203	104.0	96.0	98.0		3034	2.6	1.0	21	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMPRSS15	NM_002772.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1012/1020	19642312	1,13005	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19642312C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.3034G>A	21.37:g.19642312C>T	ENSP00000284885:p.Glu1012Lys						p.E1012K	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			25	3067	-			1012			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.3034G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902014	0.33535	0.0	1.16E-4	ENSG00000154646	ENST00000284885	D	0.93019	-3.15	5.69	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.385045	0.28062	N	0.016744	D	0.82595	0.5071	N	0.12887	0.27	0.33889	D	0.637124	B	0.12013	0.005	B	0.08055	0.003	T	0.77523	-0.2556	9	.	.	.	.	6.8671	0.24100	0.0:0.5801:0.2755:0.1444	.	1012	P98073	ENTK_HUMAN	K	1012	ENSP00000284885:E1012K	.	E	-	1	0	TMPRSS15	18564183	0.789000	0.28775	1.000000	0.80357	0.696000	0.40369	0.918000	0.28678	1.361000	0.45981	0.655000	0.94253	GAA		0.423	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		54	248	0	0	0	1	0	54	248				
OR4Q3	441669	broad.mit.edu	37	14	20216295	20216295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216295G>A	ENST00000331723.1	+	1	709	c.709G>A	c.(709-711)Gtc>Atc	p.V237I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGAACAAGGTCTTCTCTAC	0.483																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(709-711)Gtc>Atc		olfactory receptor, family 4, subfamily Q, member 3							166.0	151.0	156.0					14																	20216295		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216295G>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.709G>A	14.37:g.20216295G>A	ENSP00000330049:p.Val237Ile						p.V237I	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	709	+	all_cancers(95;0.00108)		237					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.709G>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.243	0.807218	0.16467	.	.	ENSG00000182652	ENST00000331723	T	0.00202	8.56	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.182095	0.25798	U	0.028227	T	0.00178	0.0005	L	0.31578	0.945	0.09310	N	0.999998	B	0.27166	0.17	B	0.32022	0.139	T	0.48896	-0.8994	10	0.87932	D	0	.	13.8562	0.63529	0.0:0.0:1.0:0.0	.	237	Q8NH05	OR4Q3_HUMAN	I	237	ENSP00000330049:V237I	ENSP00000330049:V237I	V	+	1	0	OR4Q3	19286135	0.986000	0.35501	0.967000	0.41034	0.006000	0.05464	3.452000	0.52971	2.106000	0.64143	0.509000	0.49947	GTC		0.483	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			62	581	0	0	0	1	0	62	581				
CHD8	57680	broad.mit.edu	37	14	21859667	21859667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21859667C>T	ENST00000557364.1	-	36	7283	c.7020G>A	c.(7018-7020)tgG>tgA	p.W2340*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Nonsense_Mutation_p.W2340*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2340					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACCCTGTAACCACATCTCCA	0.512																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(7018-7020)tgG>tgA		chromodomain helicase DNA binding protein 8							50.0	51.0	51.0					14																	21859667		2025	4166	6191	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21859667C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7020G>A	14.37:g.21859667C>T	ENSP00000451601:p.Trp2340*					CHD8_ENST00000557364.1_Nonsense_Mutation_p.W2340*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*	p.W2340*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	35	7084	-	all_cancers(95;0.00121)		2340					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.7020G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	49	15.257496	0.99828	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6396	18.1527	0.89679	0.0:1.0:0.0:0.0	.	.	.	.	X	2061;2340;2060;2340	.	ENSP00000262707:W2060X	W	-	3	0	CHD8	20929507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.949000	0.75971	2.819000	0.97034	0.655000	0.94253	TGG		0.512	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		22	110	0	0	0	1	0	22	110				
PLCH1	23007	broad.mit.edu	37	3	155198762	155198762	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155198762G>A	ENST00000340059.7	-	23	5076	c.5077C>T	c.(5077-5079)Ctg>Ttg	p.L1693L	PLCH1_ENST00000460012.1_Silent_p.L1655L|PLCH1_ENST00000414191.1_Silent_p.L1655L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1693					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAATTCACAGTCTCAAAAGA	0.338																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4963-4965)Ctg>Ttg		phospholipase C, eta 1							39.0	47.0	44.0					3																	155198762		2202	4299	6501	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155198762G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.5077C>T	3.37:g.155198762G>A						PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000340059.7_Silent_p.L1693L|PLCH1_ENST00000414191.1_Silent_p.L1655L	p.L1655L			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5320	-			1693					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.4963C>T	CCDS46939.1																																																																																				0.338	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		38	236	0	0	0	1	0	38	236				
TMCO6	55374	broad.mit.edu	37	5	140023463	140023463	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140023463G>T	ENST00000394671.3	+	9	1118	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	TMCO6_ENST00000537378.1_Silent_p.V99V|TMCO6_ENST00000252100.6_Silent_p.V345V|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	339					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTGTGGCAGCCTTAT	0.537																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(1015-1017)gtG>gtT		transmembrane and coiled-coil domains 6							94.0	104.0	101.0					5																	140023463		2075	4235	6310	SO:0001819	synonymous_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023463G>T	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1017G>T	5.37:g.140023463G>T						TMCO6_ENST00000537378.1_Silent_p.V99V|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Silent_p.V345V	p.V339V	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1118	+			339					Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	37	c.1017G>T	CCDS4233.2																																																																																				0.537	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		81	309	1	0	6.86016e-32	1	8.08805e-32	81	309				
TSG101	7251	broad.mit.edu	37	11	18536312	18536312	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536312C>T	ENST00000251968.3	-	4	685	c.270G>A	c.(268-270)aaG>aaA	p.K90K	TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Silent_p.K90K	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	90	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AACTAGTAGGCTTAACAAAAC	0.338																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(268-270)aaG>aaA		tumor susceptibility 101							156.0	168.0	164.0					11																	18536312		2199	4291	6490	SO:0001819	synonymous_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18536312C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.270G>A	11.37:g.18536312C>T						TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000251968.3_Silent_p.K90K	p.K90K			Q99816	TS101_HUMAN			4	404	-			90			UEV.		Q9BUM5	Silent	SNP	ENST00000251968.3	37	c.270G>A	CCDS7842.1																																																																																				0.338	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		86	535	0	0	0	1	0	86	535				
CCDC102A	92922	broad.mit.edu	37	16	57550216	57550216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57550216C>T	ENST00000258214.2	-	7	1654	c.1408G>A	c.(1408-1410)Gct>Act	p.A470T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	470										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCGTCCTCAGCCTGGGCCAGC	0.667																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1408-1410)Gct>Act		coiled-coil domain containing 102A							63.0	49.0	54.0					16																	57550216		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57550216C>T	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1408G>A	16.37:g.57550216C>T	ENSP00000258214:p.Ala470Thr						p.A470T	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			7	1654	-			470					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1408G>A	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.337255	0.81911	.	.	ENSG00000135736	ENST00000258214	T	0.78816	-1.21	3.97	3.0	0.34707	.	0.060265	0.64402	U	0.000003	T	0.80127	0.4566	M	0.68317	2.08	0.58432	D	0.999997	P	0.46327	0.876	P	0.50192	0.634	T	0.79909	-0.1604	10	0.49607	T	0.09	-7.7109	11.9481	0.52940	0.1752:0.8247:0.0:0.0	.	470	Q96A19	C102A_HUMAN	T	470	ENSP00000258214:A470T	ENSP00000258214:A470T	A	-	1	0	CCDC102A	56107717	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.586000	0.67503	0.863000	0.35553	0.466000	0.42574	GCT		0.667	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		7	214	0	0	0	1	0	7	214				
ZBTB41	360023	broad.mit.edu	37	1	197168633	197168633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197168633C>T	ENST00000367405.4	-	1	1039	c.971G>A	c.(970-972)aGt>aAt	p.S324N	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ATCCTTTTCACTTTGTTCTTC	0.418																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(970-972)aGt>aAt		zinc finger and BTB domain containing 41							136.0	131.0	133.0					1																	197168633		2202	4300	6502	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197168633C>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.971G>A	1.37:g.197168633C>T	ENSP00000356375:p.Ser324Asn					ZBTB41_ENST00000467322.1_5'UTR	p.S324N	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	1039	-			324					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.971G>A	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889621	0.52014	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.33	4.33	0.51752	.	0.000000	0.47093	U	0.000248	T	0.06096	0.0158	N	0.24115	0.695	0.36069	D	0.84197	P	0.47409	0.895	B	0.41332	0.354	T	0.48885	-0.8995	10	0.32370	T	0.25	.	16.9144	0.86148	0.0:1.0:0.0:0.0	.	324	Q5SVQ8	ZBT41_HUMAN	N	324	ENSP00000356375:S324N	ENSP00000356375:S324N	S	-	2	0	ZBTB41	195435256	0.998000	0.40836	0.960000	0.40013	0.873000	0.50193	2.775000	0.47702	1.947000	0.56498	0.298000	0.19748	AGT		0.418	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		93	440	0	0	0	1	0	93	440				
TMEM225	338661	broad.mit.edu	37	11	123754867	123754867	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754867T>G	ENST00000375026.2	-	3	594	c.378A>C	c.(376-378)caA>caC	p.Q126H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	126					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TGGATTGACCTTGCTTCAGCT	0.373																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(376-378)caA>caC		transmembrane protein 225							126.0	123.0	124.0					11																	123754867		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123754867T>G	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.378A>C	11.37:g.123754867T>G	ENSP00000364166:p.Gln126His						p.Q126H	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			3	594	-			126						Missense_Mutation	SNP	ENST00000375026.2	37	c.378A>C	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	5.286	0.238253	0.10023	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69306	-0.39;-0.39	4.84	0.998	0.19857	.	0.666048	0.13298	N	0.398474	T	0.43897	0.1268	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.22753	0.041	T	0.30880	-0.9963	10	0.49607	T	0.09	-0.9408	3.1305	0.06421	0.1383:0.0847:0.1405:0.6364	.	126	Q6GV28	TM225_HUMAN	H	126;76	ENSP00000364166:Q126H;ENSP00000431282:Q76H	ENSP00000364166:Q126H	Q	-	3	2	TMEM225	123260077	0.454000	0.25728	0.099000	0.21106	0.001000	0.01503	0.556000	0.23438	0.032000	0.15435	-1.532000	0.00920	CAA		0.373	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		98	441	0	0	0	1	0	98	441				
UMPS	7372	broad.mit.edu	37	3	124454055	124454055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124454055T>C	ENST00000232607.2	+	2	378	c.272T>C	c.(271-273)aTt>aCt	p.I91T	UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	91	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ACCAATCAAATTCCAATGCTT	0.348																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(271-273)aTt>aCt		uridine monophosphate synthetase							78.0	68.0	72.0					3																	124454055		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124454055T>C		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.272T>C	3.37:g.124454055T>C	ENSP00000232607:p.Ile91Thr					UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000413078.2_Intron	p.I91T	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	2	378	+			91			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.272T>C	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121934	0.56613	.	.	ENSG00000114491	ENST00000232607	T	0.72725	-0.68	5.22	5.22	0.72569	Phosphoribosyltransferase (1);	0.350832	0.30260	N	0.010038	T	0.62221	0.2410	L	0.35854	1.095	0.80722	D	1	B	0.24186	0.099	B	0.25405	0.06	T	0.58301	-0.7660	10	0.29301	T	0.29	-22.7445	15.253	0.73561	0.0:0.0:0.0:1.0	.	91	P11172	UMPS_HUMAN	T	91	ENSP00000232607:I91T	ENSP00000232607:I91T	I	+	2	0	UMPS	125936745	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.114000	0.64648	2.178000	0.69098	0.533000	0.62120	ATT		0.348	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		26	146	0	0	0	1	0	26	146				
TRPC6	7225	broad.mit.edu	37	11	101353865	101353865	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101353865T>G	ENST00000344327.3	-	5	1749	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T|TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T|TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	442					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTACAAACTTCATGAATGG	0.413																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1324-1326)aAg>aCg		transient receptor potential cation channel, subfamily C, member 6							97.0	88.0	91.0					11																	101353865		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101353865T>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1325A>C	11.37:g.101353865T>G	ENSP00000340913:p.Lys442Thr					TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T|TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T|TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T	p.K442T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	5	1749	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	442					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1325A>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618452	0.66787	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.969;0.997	D	0.87137	0.2200	10	0.87932	D	0	-10.7074	15.6364	0.76958	0.0:0.0:0.0:1.0	.	387;326;442	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	442;442;326;387	ENSP00000340913:K442T;ENSP00000435574:K442T;ENSP00000343672:K326T;ENSP00000353687:K387T	ENSP00000340913:K442T	K	-	2	0	TRPC6	100859075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.089000	0.63090	0.482000	0.46254	AAG		0.413	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		37	227	0	0	0	1	0	37	227				
KIF13A	63971	broad.mit.edu	37	6	17826038	17826038	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17826038C>T	ENST00000259711.6	-	16	1852	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378814.5_Missense_Mutation_p.A583T	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	583					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCATCTGTGCAAATTCATAG	0.468																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1747-1749)Gca>Aca		kinesin family member 13A							106.0	107.0	107.0					6																	17826038		1922	4132	6054	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17826038C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1747G>A	6.37:g.17826038C>T	ENSP00000259711:p.Ala583Thr					KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000259711.6_Missense_Mutation_p.A583T	p.A583T	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		16	1746	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	583					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1747G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610702	0.96637	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;0.998	D;D;D;D;D	0.80764	0.994;0.931;0.982;0.988;0.937	D	0.89111	0.3496	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	554;583;583;583;583	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	T	583	ENSP00000368091:A583T;ENSP00000259711:A583T;ENSP00000368103:A583T;ENSP00000368120:A583T;ENSP00000368093:A583T	ENSP00000259711:A583T	A	-	1	0	KIF13A	17934017	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.432000	0.80349	2.894000	0.99253	0.655000	0.94253	GCA		0.468	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			88	385	0	0	0	1	0	88	385				
COL6A1	1291	broad.mit.edu	37	21	47410314	47410314	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47410314T>C	ENST00000361866.3	+	13	1094	c.980T>C	c.(979-981)aTc>aCc	p.I327T		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	327	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AAGCGTGGCATCGACGGGGTG	0.657																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(979-981)aTc>aCc		collagen, type VI, alpha 1	Palifermin(DB00039)						41.0	36.0	38.0					21																	47410314		2201	4299	6500	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410314T>C	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.980T>C	21.37:g.47410314T>C	ENSP00000355180:p.Ile327Thr						p.I327T	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	13	1094	+	all_hematologic(128;0.24)		327			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.980T>C	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003781	0.35320	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93133	-3.17	4.79	4.79	0.61399	.	0.462231	0.20711	N	0.087098	D	0.92064	0.7485	L	0.33668	1.02	0.23636	N	0.997236	D	0.63880	0.993	P	0.57620	0.824	D	0.83907	0.0293	10	0.11182	T	0.66	-14.5701	13.5188	0.61555	0.0:0.0:0.0:1.0	.	327	P12109	CO6A1_HUMAN	T	327	ENSP00000355180:I327T	ENSP00000355180:I327T	I	+	2	0	COL6A1	46234742	0.853000	0.29707	0.835000	0.33067	0.796000	0.44982	2.119000	0.41958	1.791000	0.52520	0.533000	0.62120	ATC		0.657	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		54	201	0	0	0	1	0	54	201				
CCDC106	29903	broad.mit.edu	37	19	56163952	56163952	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56163952A>C	ENST00000586790.1	+	5	1587	c.683A>C	c.(682-684)gAg>gCg	p.E228A	CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A|CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A|U2AF2_ENST00000308924.4_5'Flank|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	228						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCCCCCGAGAAGCTGGCC	0.662																																						ENST00000586790.1																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(682-684)gAg>gCg		coiled-coil domain containing 106							52.0	59.0	56.0					19																	56163952		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56163952A>C	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.683A>C	19.37:g.56163952A>C	ENSP00000465757:p.Glu228Ala					CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A|CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A	p.E228A			Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	5	1587	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	228					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.683A>C	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124616	0.77436	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.54323	1.7	0.58432	D	0.999995	D	0.67145	0.996	D	0.79784	0.993	T	0.71286	-0.4638	9	0.66056	D	0.02	0.0717	11.4314	0.50043	1.0:0.0:0.0:0.0	.	228	Q9BWC9	CC106_HUMAN	A	228	.	ENSP00000309681:E228A	E	+	2	0	CCDC106	60855764	1.000000	0.71417	0.957000	0.39632	0.872000	0.50106	5.552000	0.67281	1.584000	0.49913	0.454000	0.30748	GAG		0.662	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		84	357	0	0	0	1	0	84	357				
SLFNL1	200172	broad.mit.edu	37	1	41482929	41482929	+	Missense_Mutation	SNP	C	C	T	rs187351729		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41482929C>T	ENST00000359345.1	-	3	3654	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	SLFNL1_ENST00000439569.2_Missense_Mutation_p.A360T|SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|SLFNL1_ENST00000397197.2_Intron|SLFNL1_ENST00000302946.8_Missense_Mutation_p.A360T|SLFNL1_ENST00000372613.2_Intron	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	360							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TCCTGGATGGCGCTGGCAGAC	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17143	0.0		0.0	False		,,,				2504	0.0					ENST00000359345.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1078-1080)Gcc>Acc		schlafen-like 1							25.0	25.0	25.0					1																	41482929		2199	4296	6495	SO:0001583	missense	200172						ATP binding	g.chr1:41482929C>T	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.1078G>A	1.37:g.41482929C>T	ENSP00000352299:p.Ala360Thr					SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|SLFNL1_ENST00000302946.8_Missense_Mutation_p.A360T|SLFNL1_ENST00000372613.2_Intron|SLFNL1_ENST00000439569.2_Missense_Mutation_p.A360T|SLFNL1_ENST00000397197.2_Intron	p.A360T	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			3	3654	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	360					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	c.1078G>A	CCDS460.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	26.7	4.758338	0.89843	.	.	ENSG00000171790	ENST00000302946;ENST00000372611;ENST00000359345;ENST00000439569	T;T;T;T	0.27402	1.67;1.8;1.67;1.67	5.57	5.57	0.84162	.	0.000000	0.52532	D	0.000073	T	0.42517	0.1206	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.64506	0.926;0.565	T	0.12785	-1.0534	10	0.42905	T	0.14	-35.7209	15.047	0.71835	0.0:1.0:0.0:0.0	.	301;360	Q499Z3-2;Q499Z3	.;SLNL1_HUMAN	T	360;301;360;360	ENSP00000304401:A360T;ENSP00000361694:A301T;ENSP00000352299:A360T;ENSP00000398938:A360T	ENSP00000304401:A360T	A	-	1	0	SLFNL1	41255516	0.980000	0.34600	0.960000	0.40013	0.876000	0.50452	2.561000	0.45905	2.619000	0.88677	0.561000	0.74099	GCC		0.682	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		10	51	0	0	0	1	0	10	51				
ITGB8	3696	broad.mit.edu	37	7	20418715	20418715	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418715A>G	ENST00000222573.4	+	4	1114	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	144					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCCTCTGAAGAAATATCCTGT	0.308																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(430-432)Aaa>Gaa		integrin, beta 8							70.0	81.0	77.0					7																	20418715		2193	4298	6491	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418715A>G		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.430A>G	7.37:g.20418715A>G	ENSP00000222573:p.Lys144Glu					ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E	p.K144E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			4	1114	+			144					A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.430A>G	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785427	0.49997	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.91996	-2.95;-2.95	5.42	4.25	0.50352	Integrin beta subunit, N-terminal (2);	0.067674	0.64402	D	0.000011	D	0.85423	0.5693	N	0.17082	0.46	0.36197	D	0.850466	B;B	0.27286	0.034;0.174	B;B	0.29942	0.068;0.109	D	0.83988	0.0336	10	0.41790	T	0.15	-20.749	12.8016	0.57588	0.863:0.137:0.0:0.0	.	144;144	P26012;Q9BUG9	ITB8_HUMAN;.	E	9;144	ENSP00000441561:K9E;ENSP00000222573:K144E	ENSP00000222573:K144E	K	+	1	0	ITGB8	20385240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	0.972000	0.38314	0.528000	0.53228	AAA		0.308	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		80	304	0	0	0	1	0	80	304				
NOD2	64127	broad.mit.edu	37	16	50745198	50745198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745198G>A	ENST00000300589.2	+	4	1481	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGAGGAAGCGCCATCATGAG	0.622																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1375-1377)cGc>cAc		nucleotide-binding oligomerization domain containing 2							68.0	72.0	70.0					16																	50745198		2198	4299	6497	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745198G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1376G>A	16.37:g.50745198G>A	ENSP00000300589:p.Arg459His						p.R459H	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1481	+		all_cancers(37;0.0156)	459			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1376G>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470983	0.01044	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.78003	-1.14	5.12	2.32	0.28847	.	0.954894	0.08725	N	0.902954	T	0.51958	0.1705	N	0.03948	-0.315	0.25087	N	0.990887	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.002;0.0;0.003	T	0.36744	-0.9735	10	0.12103	T	0.63	.	6.681	0.23119	0.5308:0.0:0.4692:0.0	.	243;432;459	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	H	432;459	ENSP00000300589:R459H	ENSP00000300589:R459H	R	+	2	0	NOD2	49302699	0.712000	0.27916	0.723000	0.30687	0.042000	0.13812	3.150000	0.50662	0.267000	0.21916	0.561000	0.74099	CGC		0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		67	590	0	0	0	1	0	67	590				
PIK3R3	8503	broad.mit.edu	37	1	46527716	46527716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46527716C>T	ENST00000262741.5	-	6	1338	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	217					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TTAAAAGCTTCTATTGCAGTC	0.333																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(649-651)Gaa>Aaa		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							134.0	127.0	129.0					1																	46527716		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46527716C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.649G>A	1.37:g.46527716C>T	ENSP00000262741:p.Glu217Lys					PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K	p.E217K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			6	1338	-	Acute lymphoblastic leukemia(166;0.155)		217					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.649G>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110001	0.94292	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;D;D;T;D	0.86627	-1.4;-1.4;-1.4;-1.59;-2.15;-1.37;-1.59	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	M	0.86953	2.85	0.80722	D	1	P;D;P;P	0.53619	0.803;0.961;0.897;0.507	P;P;P;B	0.54100	0.612;0.742;0.686;0.296	D	0.93558	0.6892	10	0.87932	D	0	.	15.1844	0.72989	0.0:0.9324:0.0:0.0676	.	263;250;217;217	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	217;217;217;217;181;263;217	ENSP00000361075:E217K;ENSP00000262741:E217K;ENSP00000412546:E217K;ENSP00000346188:E217K;ENSP00000342484:E181K;ENSP00000439913:E263K;ENSP00000391431:E217K	ENSP00000262741:E217K	E	-	1	0	PIK3R3	46300303	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	1.481000	0.48307	0.563000	0.77884	GAA		0.333	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		88	314	0	0	0	1	0	88	314				
GALNT13	114805	broad.mit.edu	37	2	155102495	155102495	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:155102495G>A	ENST00000392825.3	+	7	1424	c.857G>A	c.(856-858)aGg>aAg	p.R286K	GALNT13_ENST00000409237.1_Splice_Site_p.R286K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	286	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTACCTGTCAGGTATGTAGAT	0.343																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.e7+1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							52.0	50.0	51.0					2																	155102495		2203	4300	6503	SO:0001630	splice_region_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102495G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.857+1G>A	2.37:g.155102495G>A						GALNT13_ENST00000409237.1_Splice_Site_p.R286_splice	p.R286_splice	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			7	1424	+			286			Catalytic subdomain B.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Splice_Site	SNP	ENST00000392825.3	37	c.857_splice	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788402	0.49997	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.13	4.24	0.50183	Glycosyl transferase, family 2 (1);	0.042624	0.85682	D	0.000000	T	0.54615	0.1869	L	0.58354	1.805	0.80722	D	1	B;B;B;B	0.15719	0.001;0.01;0.014;0.01	B;B;B;B	0.24006	0.006;0.034;0.05;0.034	T	0.51132	-0.8744	10	0.25106	T	0.35	.	15.0273	0.71680	0.0:0.1431:0.8569:0.0	.	286;286;286;286	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	K	286	ENSP00000376570:R286K;ENSP00000387239:R286K	ENSP00000376570:R286K	R	+	2	0	GALNT13	154810741	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.373000	0.73128	1.298000	0.44778	-0.292000	0.09595	AGG		0.343	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	Missense_Mutation	45	171	0	0	0	1	0	45	171				
ABCC4	10257	broad.mit.edu	37	13	95886992	95886992	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95886992A>G	ENST00000376887.4	-	4	517	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	135	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Y135H(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCATAGGCGTACGCTGTGTTC	0.393																																						ENST00000376887.4																			2	Substitution - Missense(2)	p.Y135H(2)	large_intestine(2)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(403-405)Tac>Cac		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						82.0	71.0	75.0					13																	95886992		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95886992A>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.403T>C	13.37:g.95886992A>G	ENSP00000366084:p.Tyr135His					ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H	p.Y135H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			4	517	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		135			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.403T>C	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	9.128	1.010584	0.19277	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	D;D;D	0.90900	-2.75;-2.75;-2.75	5.27	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.333305	0.32624	N	0.005842	D	0.94545	0.8243	M	0.90595	3.13	0.58432	D	0.999998	P;B;P;B	0.41232	0.743;0.086;0.743;0.245	P;B;P;B	0.53224	0.721;0.2;0.721;0.41	D	0.94090	0.7352	10	0.66056	D	0.02	.	10.9779	0.47478	0.9269:0.0:0.073:0.0	.	135;135;135;135	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	H	135	ENSP00000388657:Y135H;ENSP00000366084:Y135H;ENSP00000398562:Y135H	ENSP00000366084:Y135H	Y	-	1	0	ABCC4	94684993	0.993000	0.37304	0.007000	0.13788	0.038000	0.13279	4.615000	0.61190	0.851000	0.35264	0.533000	0.62120	TAC		0.393	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		25	109	0	0	0	1	0	25	109				
AGBL2	79841	broad.mit.edu	37	11	47735874	47735874	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47735874A>C	ENST00000525123.1	-	3	344	c.59T>G	c.(58-60)tTt>tGt	p.F20C	AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	20						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACGGTACATAAAGTCTTCATA	0.363																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(58-60)tTt>tGt		ATP/GTP binding protein-like 2							124.0	113.0	117.0					11																	47735874		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47735874A>C		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.59T>G	11.37:g.47735874A>C	ENSP00000435582:p.Phe20Cys					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C|AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C	p.F20C	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			3	344	-			20					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.59T>G	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276428	0.80580	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000529154;ENST00000530969	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.76	4.76	0.60689	.	0.244339	0.35151	N	0.003404	T	0.54679	0.1873	M	0.72894	2.215	0.37178	D	0.903382	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.972;0.996	T	0.65792	-0.6082	10	0.87932	D	0	-22.7366	14.5772	0.68258	1.0:0.0:0.0:0.0	.	20;20;20	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	C	20	ENSP00000435582:F20C;ENSP00000350228:F20C;ENSP00000298861:F20C;ENSP00000436630:F20C;ENSP00000436063:F20C;ENSP00000436518:F20C;ENSP00000431835:F20C	ENSP00000298861:F20C	F	-	2	0	AGBL2	47692450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.886000	0.75611	1.914000	0.55421	0.533000	0.62120	TTT		0.363	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		79	280	0	0	0	1	0	79	280				
PSORS1C1	170679	broad.mit.edu	37	6	31084043	31084043	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084043C>T	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Missense_Mutation_p.S450N|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GCTGGACTTGCTGCCACAAGG	0.612																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1348-1350)aGc>aAc		corneodesmosin							40.0	40.0	40.0					6																	31084043		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084043C>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1375C>T	6.37:g.31084043C>T						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S450N	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1375	-			450			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.1349G>A	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589734	0.66105	.	.	ENSG00000204539	ENST00000376288	T	0.11277	2.79	4.09	4.09	0.47781	.	0.000000	0.52532	D	0.000073	T	0.11922	0.0290	L	0.34521	1.04	0.27733	N	0.944733	D	0.67145	0.996	D	0.75484	0.986	T	0.01771	-1.1277	10	0.72032	D	0.01	-20.7062	11.9619	0.53013	0.0:1.0:0.0:0.0	.	450	Q15517	CDSN_HUMAN	N	450	ENSP00000365465:S450N	ENSP00000365465:S450N	S	-	2	0	CDSN	31192022	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.072000	0.41510	2.260000	0.74910	0.471000	0.43371	AGC		0.612	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		61	202	0	0	0	1	0	61	202				
LARP4	113251	broad.mit.edu	37	12	50869634	50869634	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50869634G>T	ENST00000398473.2	+	16	2274	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I	LARP4_ENST00000518444.1_Missense_Mutation_p.R720I|LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000429001.3_Missense_Mutation_p.R727I|LARP4_ENST00000347328.5_Missense_Mutation_p.R650I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	721					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTGCCACCCAGATCACCAAAG	0.443																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2161-2163)aGa>aTa		La ribonucleoprotein domain family, member 4							52.0	53.0	52.0					12																	50869634		1884	4121	6005	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50869634G>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2162G>T	12.37:g.50869634G>T	ENSP00000381490:p.Arg721Ile					LARP4_ENST00000429001.3_Missense_Mutation_p.R727I|LARP4_ENST00000347328.5_Missense_Mutation_p.R650I|LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000518444.1_Missense_Mutation_p.R720I	p.R721I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			16	2274	+			721					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.2162G>T	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798127	0.50208	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.34072	1.38;1.39;1.41;1.4;1.38	5.44	5.44	0.79542	.	0.290023	0.38605	N	0.001639	T	0.56046	0.1959	L	0.52364	1.645	0.58432	D	0.999992	B;D;P;B;B;P;B	0.76494	0.36;0.999;0.866;0.42;0.42;0.495;0.379	B;D;B;B;B;B;B	0.69479	0.112;0.964;0.328;0.061;0.09;0.09;0.095	T	0.54125	-0.8340	10	0.56958	D	0.05	.	19.6351	0.95728	0.0:0.0:1.0:0.0	.	602;131;720;650;650;721;727	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	I	650;727;721;720;602;650	ENSP00000293618:R650I;ENSP00000415464:R727I;ENSP00000381490:R721I;ENSP00000429077:R720I;ENSP00000340901:R650I	ENSP00000293618:R650I	R	+	2	0	LARP4	49155901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.787000	0.55439	2.728000	0.93425	0.643000	0.83706	AGA		0.443	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		7	285	1	0	8.12818e-05	1	8.2724e-05	7	285				
KCTD11	147040	broad.mit.edu	37	17	7256823	7256823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256823C>T	ENST00000333751.3	+	1	1616	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	188					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGGAGAGCGGCGGGAGGTGGT	0.677																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(562-564)Cgg>Tgg		potassium channel tetramerization domain containing 11							15.0	19.0	17.0					17																	7256823		2167	4253	6420	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256823C>T	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.562C>T	17.37:g.7256823C>T	ENSP00000328352:p.Arg188Trp					RP11-542C16.1_ENST00000572417.1_RNA	p.R188W	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1616	+		Prostate(122;0.157)	188					B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.562C>T	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237051	0.58886	.	.	ENSG00000213859	ENST00000333751	T	0.71461	-0.57	4.94	2.86	0.33363	.	0.130623	0.29009	U	0.013434	T	0.68430	0.3000	N	0.19112	0.55	0.29962	N	0.819331	D	0.76494	0.999	P	0.62014	0.897	T	0.66642	-0.5872	10	0.66056	D	0.02	.	9.9281	0.41505	0.3702:0.6298:0.0:0.0	.	188	Q693B1	KCD11_HUMAN	W	188	ENSP00000328352:R188W	ENSP00000328352:R188W	R	+	1	2	KCTD11	7197547	0.144000	0.22641	0.592000	0.28758	0.930000	0.56654	0.415000	0.21181	0.622000	0.30249	0.462000	0.41574	CGG		0.677	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		51	191	0	0	0	1	0	51	191				
SCN1A	6323	broad.mit.edu	37	2	166900413	166900413	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166900413G>A	ENST00000303395.4	-	11	1808	c.1809C>T	c.(1807-1809)agC>agT	p.S603S	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Silent_p.S603S|SCN1A_ENST00000375405.3_Silent_p.S603S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S603S|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	603					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCTCTACGGCTCTCGTTAT	0.532																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1807-1809)agC>agT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						172.0	149.0	157.0					2																	166900413		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900413G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1809C>T	2.37:g.166900413G>A						SCN1A_ENST00000303395.4_Silent_p.S603S|SCN1A_ENST00000375405.3_Silent_p.S603S|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S603S	p.S603S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1826	-			603					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.1809C>T	CCDS54413.1																																																																																				0.532	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		83	369	0	0	0	1	0	83	369				
MITF	4286	broad.mit.edu	37	3	70014328	70014328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014328T>C	ENST00000448226.2	+	10	1637	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000352241.4_Missense_Mutation_p.S498P|MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	504					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTCCTCAGTGTCCCCCGGAGC	0.532			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(1492-1494)Tcc>Ccc		microphthalmia-associated transcription factor							103.0	102.0	102.0					3																	70014328		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70014328T>C		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1510T>C	3.37:g.70014328T>C	ENSP00000391803:p.Ser504Pro					MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P|MITF_ENST00000448226.2_Missense_Mutation_p.S504P	p.S498P	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	10	1655	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	504					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.1492T>C		.	.	.	.	.	.	.	.	.	.	T	24.8	4.571044	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.994;0.996;0.996;0.994;0.991;0.998	D	0.90812	0.4702	9	.	.	.	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	446;397;391;473;482;497;498	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	P	498;504;446;497;482;473;391;397;335	ENSP00000295600:S498P;ENSP00000391803:S504P;ENSP00000418845:S446P;ENSP00000327867:S497P;ENSP00000324443:S482P;ENSP00000377884:S473P;ENSP00000324246:S391P;ENSP00000377880:S397P;ENSP00000435909:S335P	.	S	+	1	0	MITF	70097018	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	TCC		0.532	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		84	341	0	0	0	1	0	84	341				
COPA	1314	broad.mit.edu	37	1	160277034	160277034	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160277034C>T	ENST00000241704.7	-	14	1450	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	COPA_ENST00000368069.3_Splice_Site_p.A407A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	407					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCTTCAGGCGCTGAGAAGA	0.537																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.e14-1		coatomer protein complex, subunit alpha							121.0	114.0	116.0					1																	160277034		2203	4300	6503	SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160277034C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1220-1G>A	1.37:g.160277034C>T						COPA_ENST00000368069.3_Splice_Site_p.A407_splice	p.A407_splice	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1450	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		407					Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	37	c.1219_splice	CCDS1202.1																																																																																				0.537	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Silent	175	453	0	0	0	1	0	175	453				
SLC36A3	285641	broad.mit.edu	37	5	150664259	150664259	+	Missense_Mutation	SNP	G	G	T	rs202009800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150664259G>T	ENST00000335230.3	-	7	1133	c.722C>A	c.(721-723)cCc>cAc	p.P241H	SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	241						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGTTGCTGGGATATGGAAT	0.473																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(721-723)cCc>cAc		solute carrier family 36, member 3							103.0	93.0	97.0					5																	150664259		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150664259G>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.722C>A	5.37:g.150664259G>T	ENSP00000334750:p.Pro241His					SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	p.P241H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1133	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	241					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.722C>A	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438396	0.43326	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02301	4.35;4.35	4.35	3.45	0.39498	.	0.052083	0.85682	N	0.000000	T	0.07548	0.0190	M	0.77103	2.36	0.45354	D	0.99834	B;P;B	0.38223	0.241;0.623;0.258	B;P;B	0.50192	0.202;0.634;0.202	T	0.35992	-0.9766	10	0.15499	T	0.54	.	13.1275	0.59364	0.0:0.0:0.8332:0.1668	.	282;241;226	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	H	241;282	ENSP00000334750:P241H;ENSP00000366942:P282H	ENSP00000334750:P241H	P	-	2	0	SLC36A3	150644452	1.000000	0.71417	0.864000	0.33941	0.342000	0.28953	6.764000	0.74960	1.125000	0.41998	0.655000	0.94253	CCC		0.473	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		17	179	1	0	5.03518e-11	1	5.3609e-11	17	179				
MYH7B	57644	broad.mit.edu	37	20	33575697	33575697	+	Missense_Mutation	SNP	G	G	A	rs376103118		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33575697G>A	ENST00000262873.7	+	16	1614	c.1522G>A	c.(1522-1524)Gct>Act	p.A508T	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	466	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCTGGACATCGCTGGGTTTGA	0.607																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1522-1524)Gct>Act		myosin, heavy chain 7B, cardiac muscle, beta		G	THR/ALA	1,4313		0,1,2156	54.0	63.0	60.0		1522	3.7	1.0	20		60	0,8572		0,0,4286	no	missense	MYH7B	NM_020884.3	58	0,1,6442	AA,AG,GG		0.0,0.0232,0.0078	probably-damaging	508/1984	33575697	1,12885	2157	4286	6443	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575697G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1522G>A	20.37:g.33575697G>A	ENSP00000262873:p.Ala508Thr						p.A508T	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		16	1614	+			466			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1522G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814580	0.70912	2.32E-4	0.0	ENSG00000078814	ENST00000262873	T	0.72505	-0.66	3.74	3.74	0.42951	Myosin head, motor domain (3);	0.000000	0.35708	N	0.003031	D	0.84447	0.5474	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85621	0.1264	10	0.42905	T	0.14	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	466	A7E2Y1	MYH7B_HUMAN	T	508	ENSP00000262873:A508T	ENSP00000262873:A508T	A	+	1	0	MYH7B	33039358	1.000000	0.71417	0.975000	0.42487	0.978000	0.69477	9.657000	0.98554	2.390000	0.81377	0.561000	0.74099	GCT		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		67	367	0	0	0	1	0	67	367				
WBP4	11193	broad.mit.edu	37	13	41646932	41646932	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41646932C>T	ENST00000379487.3	+	7	901	c.501C>T	c.(499-501)acC>acT	p.T167T	WBP4_ENST00000542082.1_Silent_p.T146T	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	167	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CAGTGAAGACCGTTTGGGTAG	0.358																																						ENST00000379487.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12						c.(499-501)acC>acT		WW domain binding protein 4							137.0	138.0	138.0					13																	41646932		2203	4300	6503	SO:0001819	synonymous_variant	11193				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	g.chr13:41646932C>T	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.501C>T	13.37:g.41646932C>T						WBP4_ENST00000542082.1_Silent_p.T146T	p.T167T	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)	7	901	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	167			WW 2.		B7Z4M2|Q32P29	Silent	SNP	ENST00000379487.3	37	c.501C>T	CCDS9375.1																																																																																				0.358	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		42	355	0	0	0	1	0	42	355				
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	rs368249657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56.0	59.0	58.0					17																	4712837		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His					PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			7	736	+			202					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.605G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		37	441	0	0	0	1	0	37	441				
C3orf58	205428	broad.mit.edu	37	3	143691407	143691407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143691407G>A	ENST00000315691.3	+	1	768	c.233G>A	c.(232-234)gGc>gAc	p.G78D	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	78					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGCGTGGGGCCGCTTGCGC	0.682																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(232-234)gGc>gAc		chromosome 3 open reading frame 58							31.0	34.0	33.0					3																	143691407		2190	4271	6461	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143691407G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.233G>A	3.37:g.143691407G>A	ENSP00000320081:p.Gly78Asp						p.G78D	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			1	768	+			78					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.233G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641408	0.67244	.	.	ENSG00000181744	ENST00000315691	T	0.29917	1.55	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.41236	1.265	0.80722	D	1	D	0.54964	0.969	P	0.54431	0.752	T	0.05869	-1.0859	10	0.09590	T	0.72	.	15.8889	0.79276	0.0:0.0:1.0:0.0	.	78	Q8NDZ4	CC058_HUMAN	D	78	ENSP00000320081:G78D	ENSP00000320081:G78D	G	+	2	0	C3orf58	145174097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.437000	0.90302	1.981000	0.57761	0.561000	0.74099	GGC		0.682	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		55	280	0	0	0	1	0	55	280				
MLF1	4291	broad.mit.edu	37	3	158315917	158315917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158315917G>T	ENST00000355893.5	+	4	466	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	MLF1_ENST00000482628.1_Missense_Mutation_p.V85F|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F|MLF1_ENST00000471745.1_Missense_Mutation_p.V100F|MLF1_ENST00000359117.5_Missense_Mutation_p.V85F|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000484955.1_Missense_Mutation_p.V85F	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	110	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TTCTTCCTCAGTTATGACTTA	0.368			T	NPM1	AML																																	ENST00000359117.5				Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		0				large_intestine(3)	3						c.(253-255)Gtt>Ttt		myeloid leukemia factor 1							87.0	90.0	89.0					3																	158315917		2203	4300	6503	SO:0001583	missense	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158315917G>T	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.328G>T	3.37:g.158315917G>T	ENSP00000348157:p.Val110Phe					MLF1_ENST00000355893.5_Missense_Mutation_p.V110F|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Missense_Mutation_p.V100F|MLF1_ENST00000484955.1_Missense_Mutation_p.V85F|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F|MLF1_ENST00000482628.1_Missense_Mutation_p.V85F	p.V85F	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		4	489	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	110			Interaction with COPS3.		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	ENST00000355893.5	37	c.253G>T	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340854	0.60963	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T	0.58797	0.5;0.37;0.45;0.45;0.44;0.31;0.45;0.31;0.4	5.44	2.28	0.28536	.	0.259886	0.33515	N	0.004840	T	0.65719	0.2718	L	0.50333	1.59	0.26948	N	0.966105	D;D	0.71674	0.998;0.995	D;D	0.71414	0.973;0.959	T	0.57100	-0.7869	10	0.37606	T	0.19	-16.2454	10.8672	0.46862	0.3256:0.0:0.6744:0.0	.	141;110	Q8N8F8;P58340	.;MLF1_HUMAN	F	36;110;85;85;65;100;100;85;100;141;125	ENSP00000420410:V36F;ENSP00000348157:V110F;ENSP00000417835:V85F;ENSP00000352025:V85F;ENSP00000419636:V65F;ENSP00000420134:V100F;ENSP00000417141:V85F;ENSP00000417777:V100F;ENSP00000376568:V141F	ENSP00000348157:V110F	V	+	1	0	MLF1	159798611	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	3.451000	0.52964	0.683000	0.31428	0.563000	0.77884	GTT		0.368	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		9	370	1	0	0.000442599	1	0.000448314	9	370				
AREL1	9870	broad.mit.edu	37	14	75151269	75151269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75151269C>T	ENST00000356357.4	-	4	646	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	44					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATAAATAGTCCGGTCCCCTCG	0.547																																						ENST00000356357.4																			0											c.(130-132)cGg>cAg		apoptosis resistant E3 ubiquitin protein ligase 1							57.0	57.0	57.0					14																	75151269		1917	4123	6040	SO:0001583	missense	9870							g.chr14:75151269C>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.131G>A	14.37:g.75151269C>T	ENSP00000348714:p.Arg44Gln					AREL1_ENST00000557401.1_5'UTR	p.R44Q	NM_001039479.1	NP_001034568.1					4	646	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.131G>A	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565892	0.96540	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.53857	0.6;0.6	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.976	D;B	0.72982	0.979;0.347	T	0.59241	-0.7491	10	0.32370	T	0.25	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	44;44	O15033-2;O15033	.;K0317_HUMAN	Q	44	ENSP00000348714:R44Q;ENSP00000450458:R44Q	ENSP00000348714:R44Q	R	-	2	0	KIAA0317	74221022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.730000	0.93505	0.655000	0.94253	CGG		0.547	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		10	290	0	0	0	1	0	10	290				
NAV3	89795	broad.mit.edu	37	12	78510602	78510602	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78510602A>C	ENST00000397909.2	+	13	2860	c.2687A>C	c.(2686-2688)aAc>aCc	p.N896T	NAV3_ENST00000536525.2_Missense_Mutation_p.N896T|NAV3_ENST00000228327.6_Missense_Mutation_p.N896T|NAV3_ENST00000266692.7_Missense_Mutation_p.N896T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	896						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCCTTGATAACATCAGCACT	0.478										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2686-2688)aAc>aCc		neuron navigator 3							178.0	169.0	172.0					12																	78510602		2105	4253	6358	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78510602A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2687A>C	12.37:g.78510602A>C	ENSP00000381007:p.Asn896Thr	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.N896T|NAV3_ENST00000228327.6_Missense_Mutation_p.N896T|NAV3_ENST00000536525.2_Missense_Mutation_p.N896T	p.N896T			Q8IVL0	NAV3_HUMAN			13	2860	+			896					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2687A>C		.	.	.	.	.	.	.	.	.	.	A	20.2	3.942704	0.73672	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.64618	0.89;0.93;0.9;-0.11	5.71	5.71	0.89125	.	0.000000	0.43260	U	0.000582	T	0.79112	0.4391	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.81914	0.98;0.992;0.995	T	0.81765	-0.0783	10	0.87932	D	0	-25.6081	15.9877	0.80174	1.0:0.0:0.0:0.0	.	896;896;896	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	896	ENSP00000446132:N896T;ENSP00000381007:N896T;ENSP00000228327:N896T;ENSP00000266692:N896T	ENSP00000228327:N896T	N	+	2	0	NAV3	77034733	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.300000	0.96151	2.165000	0.68154	0.455000	0.32223	AAC		0.478	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		70	327	0	0	0	1	0	70	327				
CLIP2	7461	broad.mit.edu	37	7	73768230	73768230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768230C>T	ENST00000395060.1	+	3	699	c.699C>T	c.(697-699)ggC>ggT	p.G233G	CLIP2_ENST00000223398.6_Silent_p.G233G|CLIP2_ENST00000361545.5_Silent_p.G233G			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	233						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGACTGGCGTGGTGCGGT	0.647																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(697-699)ggC>ggT		CAP-GLY domain containing linker protein 2							128.0	108.0	115.0					7																	73768230		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73768230C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.699C>T	7.37:g.73768230C>T						CLIP2_ENST00000361545.5_Silent_p.G233G|CLIP2_ENST00000395060.1_Silent_p.G233G	p.G233G	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			4	1026	+			233					O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.699C>T	CCDS5569.1																																																																																				0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		20	688	0	0	0	1	0	20	688				
ABCA6	23460	broad.mit.edu	37	17	67111029	67111029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67111029C>A	ENST00000284425.2	-	13	1830	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	552	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTGATTTCCTCCAAGTCTT	0.328																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1654-1656)gaG>gaT		ATP-binding cassette, sub-family A (ABC1), member 6							94.0	88.0	90.0					17																	67111029		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111029C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1656G>T	17.37:g.67111029C>A	ENSP00000284425:p.Glu552Asp						p.E552D	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			13	1830	-	Breast(10;5.65e-12)		552			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1656G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569986	0.45798	.	.	ENSG00000154262	ENST00000284425	D	0.94537	-3.45	4.87	3.9	0.45041	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.229900	0.30051	N	0.010528	D	0.86003	0.5829	N	0.04746	-0.17	0.80722	D	1	B	0.24132	0.098	B	0.35688	0.208	T	0.79208	-0.1898	10	0.29301	T	0.29	.	5.1731	0.15120	0.0:0.7539:0.0:0.2461	.	552	Q8N139	ABCA6_HUMAN	D	552	ENSP00000284425:E552D	ENSP00000284425:E552D	E	-	3	2	ABCA6	64622624	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	-0.638000	0.05452	2.686000	0.91538	0.650000	0.86243	GAG		0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		18	355	1	0	3.32936e-07	1	3.45006e-07	18	355				
SLC44A2	57153	broad.mit.edu	37	19	10748582	10748582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10748582C>T	ENST00000335757.5	+	18	2122	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	SLC44A2_ENST00000586078.1_Silent_p.F582F|SLC44A2_ENST00000407327.4_Silent_p.F580F|SLC44A2_ENST00000588214.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	582					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGCCTTCTTCCTGCTCATGA	0.572																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1744-1746)ttC>ttT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						146.0	131.0	136.0					19																	10748582		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10748582C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1746C>T	19.37:g.10748582C>T						SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Silent_p.F580F|SLC44A2_ENST00000335757.5_Silent_p.F582F	p.F582F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		18	1855	+			582					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.1746C>T	CCDS12245.1																																																																																				0.572	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			74	734	0	0	0	1	0	74	734				
MAST4	375449	broad.mit.edu	37	5	66084569	66084569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084569C>T	ENST00000403625.2	+	3	884	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	MAST4_ENST00000406039.1_Missense_Mutation_p.R197C|MAST4_ENST00000404260.3_Missense_Mutation_p.R197C|MAST4_ENST00000406374.1_Missense_Mutation_p.R197C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	197						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAACCTCGTGCGCATGCGCAG	0.657																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(589-591)Cgc>Tgc		microtubule associated serine/threonine kinase family member 4							30.0	31.0	31.0					5																	66084569		1887	4111	5998	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66084569C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.589C>T	5.37:g.66084569C>T	ENSP00000385727:p.Arg197Cys					MAST4_ENST00000406039.1_Missense_Mutation_p.R197C|MAST4_ENST00000403625.2_Missense_Mutation_p.R197C|MAST4_ENST00000406374.1_Missense_Mutation_p.R197C	p.R197C			O15021	MAST4_HUMAN		Lung(70;0.011)	3	897	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	197					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.589C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553642	0.96501	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817;ENST00000434115	T;T;T;T;T	0.80304	-1.33;-1.36;-0.16;-0.03;-0.42	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	D	0.89019	0.6596	M	0.62723	1.935	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89396	0.3692	10	0.87932	D	0	.	19.3639	0.94454	0.0:1.0:0.0:0.0	.	197;197	E7EX28;O15021-4	.;.	C	197;197;197;197;69;4	ENSP00000385048:R197C;ENSP00000385727:R197C;ENSP00000385088:R197C;ENSP00000384547:R197C;ENSP00000413573:R69C	ENSP00000385727:R197C	R	+	1	0	MAST4	66120325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.677000	0.91161	0.557000	0.71058	CGC		0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			33	187	0	0	0	1	0	33	187				
DNAH9	1770	broad.mit.edu	37	17	11650903	11650903	+	Missense_Mutation	SNP	C	C	T	rs138652506	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11650903C>T	ENST00000262442.4	+	32	6498	c.6430C>T	c.(6430-6432)Cgg>Tgg	p.R2144W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2144	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGGCTGTGCGGCACTCTGT	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		17074	0.002		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6430-6432)Cgg>Tgg		dynein, axonemal, heavy chain 9		C	TRP/ARG	0,4406		0,0,2203	65.0	61.0	62.0		6430	0.1	0.3	17	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH9	NM_001372.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2144/4487	11650903	1,13005	2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650903C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6430C>T	17.37:g.11650903C>T	ENSP00000262442:p.Arg2144Trp					DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144W	p.R2144W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6498	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2144			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6430C>T	CCDS11160.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.38	3.611421	0.66558	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44881	0.91;0.91	5.03	0.113	0.14631	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.70254	0.3203	H	0.99740	4.74	0.80722	D	1	D	0.55605	0.972	P	0.50537	0.643	D	0.83810	0.0241	10	0.72032	D	0.01	.	13.858	0.63542	0.5383:0.4617:0.0:0.0	.	2144	Q9NYC9	DYH9_HUMAN	W	2144;2144;726	ENSP00000262442:R2144W;ENSP00000414874:R2144W	ENSP00000262442:R2144W	R	+	1	2	DNAH9	11591628	0.013000	0.17824	0.299000	0.25016	0.864000	0.49448	0.130000	0.15850	0.093000	0.17368	0.557000	0.71058	CGG		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		41	183	0	0	0	1	0	41	183				
FAM78A	286336	broad.mit.edu	37	9	134151457	134151457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151457C>T	ENST00000372271.3	-	1	477	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	37										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CACCGTGATCCCTTCCCGGAA	0.582																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(109-111)gGg>gAg		family with sequence similarity 78, member A							96.0	80.0	85.0					9																	134151457		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134151457C>T	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.110G>A	9.37:g.134151457C>T	ENSP00000361345:p.Gly37Glu						p.G37E	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	1	477	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	37					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.110G>A	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403374	0.83230	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.137041	0.64402	D	0.000004	T	0.34803	0.0910	N	0.08118	0	0.37486	D	0.916183	B	0.25904	0.137	B	0.31191	0.125	T	0.38045	-0.9679	9	0.41790	T	0.15	-26.0808	13.1809	0.59653	0.0:0.8399:0.1601:0.0	.	37	Q5JUQ0	FA78A_HUMAN	E	37	.	ENSP00000361345:G37E	G	-	2	0	FAM78A	133141278	0.992000	0.36948	0.998000	0.56505	0.995000	0.86356	2.985000	0.49362	2.422000	0.82143	0.561000	0.74099	GGG		0.582	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		40	174	0	0	0	1	0	40	174				
IQGAP2	10788	broad.mit.edu	37	5	76003126	76003126	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76003126C>T	ENST00000274364.6	+	36	5013	c.4716C>T	c.(4714-4716)ttC>ttT	p.F1572F	IQGAP2_ENST00000379730.3_Silent_p.F1074F|IQGAP2_ENST00000396234.3_Silent_p.F1068F|IQGAP2_ENST00000502745.1_Silent_p.F1068F|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1572					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAAGAAGTTCTATGGAAAGT	0.299																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(4714-4716)ttC>ttT		IQ motif containing GTPase activating protein 2							68.0	67.0	67.0					5																	76003126		2203	4298	6501	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:76003126C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4716C>T	5.37:g.76003126C>T						IQGAP2_ENST00000502745.1_Silent_p.F1068F|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Silent_p.F1068F|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000379730.3_Silent_p.F1074F	p.F1572F	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	36	5013	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1572					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.4716C>T	CCDS34188.1																																																																																				0.299	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		8	212	0	0	0	1	0	8	212				
SDK2	54549	broad.mit.edu	37	17	71398243	71398243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398243G>A	ENST00000392650.3	-	19	2522	c.2522C>T	c.(2521-2523)aCc>aTc	p.T841I	SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	841	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGTCACCATGGTAACCTCCTC	0.587																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(2521-2523)aCc>aTc		sidekick cell adhesion molecule 2							96.0	74.0	82.0					17																	71398243		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71398243G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2522C>T	17.37:g.71398243G>A	ENSP00000376421:p.Thr841Ile					SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	p.T841I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			19	2522	-			841			Fibronectin type-III 3.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2522C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005846	0.54254	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57107	0.42;0.42;1.57	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108394	0.64402	D	0.000007	T	0.40645	0.1125	L	0.28556	0.865	0.51233	D	0.999915	B;B	0.17038	0.013;0.02	B;B	0.17979	0.02;0.014	T	0.22034	-1.0228	10	0.36615	T	0.2	.	12.2987	0.54862	0.0782:0.0:0.9218:0.0	.	841;841	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	I	465;841;841;17;841	ENSP00000376421:T841I;ENSP00000373378:T841I;ENSP00000407098:T17I	ENSP00000324967:T841I	T	-	2	0	SDK2	68909838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.646000	0.74348	2.540000	0.85666	0.597000	0.82753	ACC		0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		47	217	0	0	0	1	0	47	217				
COL18A1	80781	broad.mit.edu	37	21	46893834	46893834	+	Missense_Mutation	SNP	G	G	A	rs201095161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46893834G>A	ENST00000359759.4	+	3	1943	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H|COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	641	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGAAGGTGCGCAGGGACCCC	0.632																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1921-1923)cGc>cAc		collagen, type XVIII, alpha 1		G	HIS/ARG,HIS/ARG	0,4104		0,0,2052	32.0	36.0	35.0		1217,677	2.8	0.1	21		35	1,8363		0,1,4181	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	29,29	0,1,6233	AA,AG,GG		0.012,0.0,0.0080	probably-damaging,probably-damaging	406/1520,226/1340	46893834	1,12467	2052	4182	6234	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46893834G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1922G>A	21.37:g.46893834G>A	ENSP00000352798:p.Arg641His					COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H|COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H	p.R641H			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	3	1943	+			641			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.1922G>A		.	.	.	.	.	.	.	.	.	.	G	7.098	0.573551	0.13623	0.0	1.2E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02158	4.42;4.42;4.42	2.81	2.81	0.32909	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.405345	0.23598	N	0.046475	T	0.05823	0.0152	L	0.28556	0.865	0.33300	D	0.564707	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.986;0.976;0.953	T	0.26916	-1.0089	10	0.56958	D	0.05	.	11.3718	0.49704	0.0:0.0:1.0:0.0	.	641;406;226	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	H	226;226;406;641;641	ENSP00000383191:R226H;ENSP00000347665:R406H;ENSP00000352798:R641H	ENSP00000347665:R406H	R	+	2	0	COL18A1	45718262	0.994000	0.37717	0.061000	0.19648	0.073000	0.16967	2.871000	0.48459	1.889000	0.54706	0.186000	0.17326	CGC		0.632	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			16	50	0	0	0	1	0	16	50				
SUGP2	10147	broad.mit.edu	37	19	19136736	19136736	+	Missense_Mutation	SNP	G	G	A	rs372694244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136736G>A	ENST00000601879.1	-	3	718	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	SUGP2_ENST00000456085.2_Silent_p.S42S|SUGP2_ENST00000452918.2_Missense_Mutation_p.R141C|SUGP2_ENST00000337018.6_Missense_Mutation_p.R141C|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.R155C			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	141					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAAGAACCACGGAGCGCAAAT	0.512																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(421-423)Cgt>Tgt		SURP and G patch domain containing 2		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	100.0	99.0	99.0		421,421	3.0	1.0	19		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SUGP2	NM_001017392.3,NM_014884.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	141/1083,141/1083	19136736	1,13005	2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136736G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.421C>T	19.37:g.19136736G>A	ENSP00000472286:p.Arg141Cys					SUGP2_ENST00000337018.6_Missense_Mutation_p.R141C|SUGP2_ENST00000456085.2_Silent_p.S42S|SUGP2_ENST00000600377.1_Missense_Mutation_p.R155C|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Missense_Mutation_p.R141C	p.R141C			Q8IX01	SUGP2_HUMAN			3	718	-			141					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.421C>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510062	0.44660	0.0	1.16E-4	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.10860	2.83;2.84;2.83	5.29	3.03	0.35002	.	0.564561	0.17120	N	0.186255	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	0.999992	D;D	0.62365	0.991;0.978	B;P	0.44477	0.446;0.451	T	0.24728	-1.0152	10	0.49607	T	0.09	-2.171	8.6193	0.33851	0.0828:0.0:0.7646:0.1527	.	141;141	A8K5G0;Q8IX01	.;SUGP2_HUMAN	C	141	ENSP00000337926:R141C;ENSP00000332373:R141C;ENSP00000389380:R141C	ENSP00000332373:R141C	R	-	1	0	SUGP2	18997736	0.035000	0.19736	0.978000	0.43139	0.837000	0.47467	2.153000	0.42282	2.489000	0.83994	0.305000	0.20034	CGT		0.512	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		87	501	0	0	0	1	0	87	501				
LAPTM5	7805	broad.mit.edu	37	1	31230535	31230535	+	Missense_Mutation	SNP	C	C	T	rs369470045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31230535C>T	ENST00000294507.3	-	1	132	c.58G>A	c.(58-60)Gca>Aca	p.A20T	LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	20					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTGGTTGCGATGCGGACA	0.627																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(58-60)Gca>Aca		lysosomal protein transmembrane 5		C	THR/ALA	0,4406		0,0,2203	82.0	77.0	79.0		58	5.4	1.0	1		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAPTM5	NM_006762.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	20/263	31230535	1,13005	2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31230535C>T	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.58G>A	1.37:g.31230535C>T	ENSP00000294507:p.Ala20Thr					LAPTM5_ENST00000476492.1_5'UTR	p.A20T	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	1	132	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	20					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.58G>A	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753101	0.89753	0.0	1.16E-4	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.38	5.38	0.77491	.	0.407078	0.25361	N	0.031230	T	0.50820	0.1638	L	0.29908	0.895	0.35481	D	0.798177	D	0.89917	1.0	P	0.56216	0.794	T	0.61377	-0.7075	10	0.66056	D	0.02	-37.7545	14.5121	0.67794	0.0:1.0:0.0:0.0	.	20	Q13571	LAPM5_HUMAN	T	20	ENSP00000294507:A20T	ENSP00000294507:A20T	A	-	1	0	LAPTM5	31003122	0.983000	0.35010	0.963000	0.40424	0.567000	0.35839	3.347000	0.52200	2.793000	0.96121	0.655000	0.94253	GCA		0.627	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		30	146	0	0	0	1	0	30	146				
FAIM3	9214	broad.mit.edu	37	1	207087392	207087392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087392G>T	ENST00000367091.3	-	2	228	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	29					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GATCCGCCCAGCTCCCCCTCT	0.537																																						ENST00000367091.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15						c.(85-87)Ctg>Atg		Fas apoptotic inhibitory molecule 3							116.0	102.0	107.0					1																	207087392		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087392G>T	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.85C>A	1.37:g.207087392G>T	ENSP00000356058:p.Leu29Met					FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M	p.L29M	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN			2	228	-	Breast(84;0.201)		29					A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.85C>A	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900391	0.17686	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.28	2.18	0.27775	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.370929	0.19644	N	0.109386	T	0.07503	0.0189	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.61328	0.887	T	0.27400	-1.0075	10	0.33141	T	0.24	-5.8687	3.0783	0.06254	0.0978:0.1775:0.5413:0.1834	.	29	O60667	FAIM3_HUMAN	M	29;29;29;29;60	ENSP00000356058:L29M;ENSP00000403356:L29M;ENSP00000432936:L29M;ENSP00000437331:L29M;ENSP00000436316:L60M	ENSP00000356058:L29M	L	-	1	2	FAIM3	205154015	0.133000	0.22466	0.124000	0.21820	0.021000	0.10359	0.731000	0.26058	0.604000	0.29930	-0.122000	0.15005	CTG		0.537	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		174	426	1	0	8.57523e-64	1	1.0829e-63	174	426				
ZNF497	162968	broad.mit.edu	37	19	58868179	58868179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58868179C>T	ENST00000311044.3	-	3	1011	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.A275T|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCGGGACAGGCGTGTGGCCGT	0.736																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(823-825)Gcc>Acc		zinc finger protein 497							7.0	8.0	8.0					19																	58868179		2165	4245	6410	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868179C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.823G>A	19.37:g.58868179C>T	ENSP00000311183:p.Ala275Thr					ZNF497_ENST00000425453.3_Missense_Mutation_p.A275T|CTD-2619J13.8_ENST00000599109.1_RNA	p.A275T	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1011	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	275					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.823G>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753174	0.31046	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.16073	2.37;2.37	1.23	-0.0606	0.13788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.03084	-0.415	0.09310	N	1	P	0.36222	0.544	B	0.23574	0.047	T	0.28522	-1.0041	9	0.54805	T	0.06	.	2.3078	0.04178	0.0:0.328:0.3019:0.3701	.	275	Q6ZNH5	ZN497_HUMAN	T	275	ENSP00000311183:A275T;ENSP00000402815:A275T	ENSP00000311183:A275T	A	-	1	0	ZNF497	63559991	0.000000	0.05858	0.001000	0.08648	0.454000	0.32378	-2.470000	0.00991	0.026000	0.15269	0.205000	0.17691	GCC		0.736	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		4	44	0	0	0	1	0	4	44				
TSHZ1	10194	broad.mit.edu	37	18	72997452	72997452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72997452C>T	ENST00000580243.1	+	2	438	c.90C>T	c.(88-90)caC>caT	p.H30H	TSHZ1_ENST00000322038.5_5'UTR			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	30					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ATGAAGAGCACGTGGAGGATG	0.448																																						ENST00000580243.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(88-90)caC>caT		teashirt zinc finger homeobox 1							22.0	23.0	22.0					18																	72997452		2183	4248	6431	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72997452C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.90C>T	18.37:g.72997452C>T						TSHZ1_ENST00000322038.5_5'UTR	p.H30H			Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	438	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	30					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.90C>T																																																																																					0.448	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		20	109	0	0	0	1	0	20	109				
PPP1R21	129285	broad.mit.edu	37	2	48734492	48734492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48734492G>A	ENST00000294952.8	+	19	2210	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	PPP1R21_ENST00000449090.2_Missense_Mutation_p.A643T|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A674T|PPP1R21_ENST00000476199.1_3'UTR	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	685						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						GTTGCAGCTGGCTGACAGTAA	0.413																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(2053-2055)Gct>Act		protein phosphatase 1, regulatory subunit 21							168.0	149.0	155.0					2																	48734492		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48734492G>A	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.2053G>A	2.37:g.48734492G>A	ENSP00000294952:p.Ala685Thr					PPP1R21_ENST00000449090.2_Missense_Mutation_p.A643T|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A674T|PPP1R21_ENST00000476199.1_3'UTR	p.A685T	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			19	2210	+			685					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.2053G>A	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469891	0.84533	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.01	5.01	0.66863	.	0.106709	0.64402	D	0.000004	T	0.60508	0.2274	M	0.72894	2.215	0.54753	D	0.999986	P;P;B	0.49559	0.925;0.645;0.161	B;B;B	0.43838	0.433;0.41;0.116	T	0.59690	-0.7407	9	0.20519	T	0.43	-13.0053	18.8654	0.92290	0.0:0.0:1.0:0.0	.	643;685;674	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	T	674;685;643	.	ENSP00000281394:A674T	A	+	1	0	KLRAQ1	48587996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.416000	0.66417	2.751000	0.94390	0.655000	0.94253	GCT		0.413	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		79	287	0	0	0	1	0	79	287				
MEP1A	4224	broad.mit.edu	37	6	46787418	46787418	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46787418T>G	ENST00000230588.4	+	7	542	c.533T>G	c.(532-534)aTc>aGc	p.I178S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	178	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGTGAACATCTGGTGGGAC	0.473																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(532-534)aTc>aGc		meprin A, alpha (PABA peptide hydrolase)							301.0	280.0	287.0					6																	46787418		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46787418T>G		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.533T>G	6.37:g.46787418T>G	ENSP00000230588:p.Ile178Ser						p.I178S	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		7	542	+			178			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.533T>G	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734390	0.89482	.	.	ENSG00000112818	ENST00000230588	T	0.72615	-0.67	5.81	5.81	0.92471	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93521	0.6861	10	0.87932	D	0	-26.6282	16.1678	0.81782	0.0:0.0:0.0:1.0	.	206;178	B7ZL91;Q16819	.;MEP1A_HUMAN	S	178	ENSP00000230588:I178S	ENSP00000230588:I178S	I	+	2	0	MEP1A	46895377	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	ATC		0.473	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		136	691	0	0	0	1	0	136	691				
NES	10763	broad.mit.edu	37	1	156641882	156641882	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641882G>T	ENST00000368223.3	-	4	2230	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	700	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGACCTCAGGGGTTCCTGA	0.468																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2098-2100)Ctg>Atg		nestin							69.0	66.0	67.0					1																	156641882		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641882G>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2098C>A	1.37:g.156641882G>T	ENSP00000357206:p.Leu700Met						p.L700M	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2230	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		700			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2098C>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215857	0.58452	.	.	ENSG00000132688	ENST00000368223	D	0.88896	-2.44	5.4	2.47	0.30058	.	0.809762	0.09720	N	0.764638	T	0.81088	0.4750	L	0.52573	1.65	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.69888	-0.5023	10	0.49607	T	0.09	.	8.9551	0.35812	0.0785:0.2821:0.6394:0.0	.	700	P48681	NEST_HUMAN	M	700	ENSP00000357206:L700M	ENSP00000357206:L700M	L	-	1	2	NES	154908506	0.222000	0.23652	0.000000	0.03702	0.231000	0.25187	0.619000	0.24388	0.248000	0.21435	0.563000	0.77884	CTG		0.468	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		102	264	1	0	2.43056e-48	1	2.99958e-48	102	264				
DUOX1	53905	broad.mit.edu	37	15	45431796	45431796	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45431796C>T	ENST00000321429.4	+	13	1795	c.1388C>T	c.(1387-1389)aCt>aTt	p.T463I	DUOX1_ENST00000389037.3_Splice_Site_p.T463I|DUOX1_ENST00000561166.1_Splice_Site_p.T109I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	463	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCAATGACACTGTGAGGAGG	0.602																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.e13+1		dual oxidase 1							27.0	24.0	25.0					15																	45431796		2198	4298	6496	SO:0001630	splice_region_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45431796C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1389+1C>T	15.37:g.45431796C>T						DUOX1_ENST00000561166.1_Splice_Site_p.T109_splice|DUOX1_ENST00000389037.3_Splice_Site_p.T463_splice	p.T463_splice	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	13	1795	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	463			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Splice_Site	SNP	ENST00000321429.4	37	c.1389_splice	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886650	0.17540	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73152	-0.72;-0.72	5.72	2.71	0.32032	.	0.243293	0.39909	N	0.001234	T	0.52964	0.1767	N	0.25647	0.755	0.32324	N	0.562014	B	0.02656	0.0	B	0.10450	0.005	T	0.55535	-0.8126	10	0.54805	T	0.06	-0.7355	6.0181	0.19615	0.1547:0.6792:0.0:0.1661	.	463	Q9NRD9	DUOX1_HUMAN	I	463	ENSP00000317997:T463I;ENSP00000373689:T463I	ENSP00000317997:T463I	T	+	2	0	DUOX1	43219088	0.017000	0.18338	0.747000	0.31113	0.149000	0.21700	0.147000	0.16202	0.846000	0.35142	0.655000	0.94253	ACT		0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	Missense_Mutation	32	152	0	0	0	1	0	32	152				
SAMD15	161394	broad.mit.edu	37	14	77857396	77857396	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77857396T>G	ENST00000216471.4	+	3	2120	c.1834T>G	c.(1834-1836)Tta>Gta	p.L612V	SAMD15_ENST00000533095.2_Missense_Mutation_p.L26V	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	612										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAAGAGCCATTATTCAAACG	0.383																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1834-1836)Tta>Gta		sterile alpha motif domain containing 15							67.0	69.0	69.0					14																	77857396		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77857396T>G	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1834T>G	14.37:g.77857396T>G	ENSP00000216471:p.Leu612Val					SAMD15_ENST00000533095.2_Missense_Mutation_p.L26V	p.L612V	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			3	2120	+			612					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1834T>G	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576316	0.28092	.	.	ENSG00000100583	ENST00000533095;ENST00000216471	T	0.20200	2.09	5.43	1.72	0.24424	Sterile alpha motif/pointed domain (1);	.	.	.	.	T	0.24392	0.0591	L	0.43152	1.355	0.19945	N	0.999946	P	0.44380	0.834	P	0.51385	0.668	T	0.12426	-1.0548	9	0.54805	T	0.06	-1.7538	4.1866	0.10400	0.0:0.2663:0.1712:0.5625	.	612	Q9P1V8	SAM15_HUMAN	V	26;612	ENSP00000216471:L612V	ENSP00000216471:L612V	L	+	1	2	SAMD15	76927149	0.030000	0.19436	0.255000	0.24374	0.507000	0.33981	-0.297000	0.08276	0.051000	0.15978	0.528000	0.53228	TTA		0.383	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		57	281	0	0	0	1	0	57	281				
CHST5	23563	broad.mit.edu	37	16	75563625	75563625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563625C>T	ENST00000336257.3	-	3	2052	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V226M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCAGGTGCACGATGCGCAGG	0.697																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(658-660)Gtg>Atg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							42.0	47.0	46.0					16																	75563625		2197	4299	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563625C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.658G>A	16.37:g.75563625C>T	ENSP00000338783:p.Val220Met					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V226M	p.V220M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2052	-			220					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.658G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688457	0.29962	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.29142	1.58;1.58	2.84	1.87	0.25490	Sulfotransferase domain (1);	0.204220	0.40222	N	0.001141	T	0.47563	0.1452	M	0.79805	2.47	0.40904	D	0.984174	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.49224	-0.8962	10	0.52906	T	0.07	.	3.652	0.08206	0.0:0.6029:0.0:0.3971	.	226;220	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	220;226	ENSP00000338783:V220M;ENSP00000441220:V226M	ENSP00000338783:V220M	V	-	1	0	CHST5	74121126	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.279000	0.43435	1.583000	0.49898	0.313000	0.20887	GTG		0.697	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		118	590	0	0	0	1	0	118	590				
XRRA1	143570	broad.mit.edu	37	11	74570255	74570255	+	Missense_Mutation	SNP	G	G	A	rs199618264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74570255G>A	ENST00000340360.6	-	12	1425	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGGCCAGCGTCTGGTTCCT	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21381	0.0		0.0	False		,,,				2504	0.0					ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1093-1095)aCg>aTg		X-ray radiation resistance associated 1							64.0	66.0	65.0					11																	74570255		1902	4115	6017	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74570255G>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1094C>T	11.37:g.74570255G>A	ENSP00000339918:p.Thr365Met					XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Intron	p.T365M	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			12	1425	-			365						Missense_Mutation	SNP	ENST00000340360.6	37	c.1094C>T	CCDS44680.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.0	4.362635	0.82353	.	.	ENSG00000166435	ENST00000340360;ENST00000344880	T	0.53423	0.62	6.07	4.06	0.47325	.	.	.	.	.	T	0.55210	0.1906	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.55315	-0.8160	9	0.48119	T	0.1	-10.3559	9.074	0.36511	0.0:0.161:0.6719:0.167	.	365	Q6P2D8	XRRA1_HUMAN	M	365;351	ENSP00000339918:T365M	ENSP00000339918:T365M	T	-	2	0	XRRA1	74247903	0.997000	0.39634	0.995000	0.50966	0.996000	0.88848	1.994000	0.40757	1.529000	0.49120	0.655000	0.94253	ACG		0.498	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		21	61	0	0	0	1	0	21	61				
CD22	933	broad.mit.edu	37	19	35836007	35836007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35836007G>T	ENST00000085219.5	+	11	2252	c.2186G>T	c.(2185-2187)aGc>aTc	p.S729I	CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000544992.2_Missense_Mutation_p.S729I|CD22_ENST00000341773.6_Missense_Mutation_p.S552I|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	729					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGCGGCCAGAGCTTCTTTGTG	0.552																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2185-2187)aGc>aTc		CD22 molecule	OspA lipoprotein(DB00045)						65.0	70.0	68.0					19																	35836007		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35836007G>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2186G>T	19.37:g.35836007G>T	ENSP00000085219:p.Ser729Ile					CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000544992.2_Missense_Mutation_p.S729I|CD22_ENST00000341773.6_Missense_Mutation_p.S552I|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I	p.S729I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	2252	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		729					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2186G>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304738	0.60305	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000419549	T;T;T;T;T	0.56444	0.95;0.54;0.46;0.94;1.01	5.32	3.03	0.35002	.	0.239865	0.30085	N	0.010457	T	0.64864	0.2637	M	0.75447	2.3	0.30270	N	0.792324	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.963;0.999;0.992;0.992;0.999	T	0.60398	-0.7271	10	0.20519	T	0.43	.	6.9595	0.24590	0.0941:0.174:0.7319:0.0	.	557;729;641;729;552	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	I	729;641;552;729;557	ENSP00000085219:S729I;ENSP00000442279:S641I;ENSP00000339349:S552I;ENSP00000441237:S729I;ENSP00000403822:S557I	ENSP00000085219:S729I	S	+	2	0	CD22	40527847	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	2.117000	0.41939	1.245000	0.43885	0.563000	0.77884	AGC		0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		71	381	1	0	1.34568e-36	1	1.61182e-36	71	381				
SUCO	51430	broad.mit.edu	37	1	172579371	172579371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172579371G>A	ENST00000263688.3	+	24	3956	c.3737G>A	c.(3736-3738)gGt>gAt	p.G1246D	SUCO_ENST00000367723.4_Missense_Mutation_p.G1397D|SUCO_ENST00000610051.1_Missense_Mutation_p.G875D|SUCO_ENST00000608151.1_Missense_Mutation_p.G1398D	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1246					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											GGAACATTTGGTGTTACAGCA	0.363																																						ENST00000367723.3																			0											c.(4192-4194)gGt>gAt		SUN domain containing ossification factor							63.0	66.0	65.0					1																	172579371		2203	4300	6503	SO:0001583	missense	51430							g.chr1:172579371G>A	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3737G>A	1.37:g.172579371G>A	ENSP00000263688:p.Gly1246Asp					SUCO_ENST00000263688.3_Missense_Mutation_p.G1246D	p.G1398D	NM_016227.2	NP_057311.2					23	4317	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.4193G>A	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371797	0.61624	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	5.26	0.73747	.	0.099482	0.64402	D	0.000002	T	0.73659	0.3615	M	0.71581	2.175	0.58432	D	0.999995	D;D;D	0.71674	0.996;0.998;0.998	D;D;P	0.65443	0.935;0.922;0.896	T	0.76645	-0.2883	9	0.87932	D	0	-15.5508	17.7888	0.88546	0.0:0.0:1.0:0.0	.	875;1398;1246	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	D	1398;1246	.	ENSP00000263688:G1246D	G	+	2	0	C1orf9	170845994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.279000	0.72620	2.617000	0.88574	0.650000	0.86243	GGT		0.363	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		65	189	0	0	0	1	0	65	189				
RUFY1	80230	broad.mit.edu	37	5	178987118	178987118	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178987118G>T	ENST00000319449.4	+	2	415	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C	RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C|RUFY1_ENST00000377001.2_Missense_Mutation_p.G135C|RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	135					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTGGGCCGCAGCCT	0.577										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(403-405)Ggc>Tgc		RUN and FYVE domain containing 1							64.0	54.0	58.0					5																	178987118		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178987118G>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.403G>T	5.37:g.178987118G>T	ENSP00000325594:p.Gly135Cys	HNSCC(44;0.11)				RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C|RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C|RUFY1_ENST00000319449.4_Missense_Mutation_p.G135C	p.G135C			Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	403	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	135					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.403G>T	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.494453|5.494453	0.96339|0.96339	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000502984	T;T;T;T|.	0.12465|.	2.68;2.68;2.68;2.68|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.047726|.	0.85682|.	D|.	0.000000|.	T|T	0.81828|0.81828	0.4905|0.4905	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.82051|0.82051	-0.0649|-0.0649	10|5	0.87932|.	D|.	0|.	-17.8433|-17.8433	19.5387|19.5387	0.95266|0.95266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	135|.	Q96T51|.	RUFY1_HUMAN|.	C|C	135;135;27;27|92	ENSP00000325594:G135C;ENSP00000366200:G135C;ENSP00000390025:G27C;ENSP00000377087:G27C|.	ENSP00000325594:G135C|.	G|W	+|+	1|3	0|0	RUFY1|RUFY1	178919724|178919724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.699000|9.699000	0.98703|0.98703	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GGC|TGG		0.577	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		37	109	1	0	5.04308e-16	1	5.52873e-16	37	109				
TRIM39	56658	broad.mit.edu	37	6	30297258	30297258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30297258G>A	ENST00000396547.1	+	2	324	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H|HCG18_ENST00000413358.2_RNA|TRIM39-RPP21_ENST00000513556.1_5'Flank|HCG18_ENST00000412685.2_RNA|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.R55H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	55					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TGCATCACCCGCTGGTGGGAG	0.547																																						ENST00000376659.5																			0				ovary(3)	3						c.(163-165)cGc>cAc		tripartite motif containing 39							173.0	158.0	163.0					6																	30297258		1509	2708	4217	SO:0001583	missense	56658							g.chr6:30297258G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.164G>A	6.37:g.30297258G>A	ENSP00000379796:p.Arg55His					TRIM39_ENST00000396547.1_Missense_Mutation_p.R55H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H	p.R55H	NM_172016.2	NP_742013.1					3	762	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.164G>A	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782143	0.70222	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000428404;ENST00000376659;ENST00000396547	D;D;D;D;D;T;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;2.18;-1.91;-1.91;-1.91;-1.91	5.15	2.36	0.29203	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000043	T	0.80560	0.4646	L	0.52126	1.63	0.26498	N	0.974821	D;B	0.76494	0.999;0.201	D;B	0.63192	0.912;0.064	T	0.71314	-0.4630	10	0.41790	T	0.15	.	7.3567	0.26723	0.3472:0.0:0.6528:0.0	.	55;55	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	H	55	ENSP00000405928:R55H;ENSP00000394768:R55H;ENSP00000379800:R55H;ENSP00000365844:R55H;ENSP00000439400:R55H;ENSP00000406019:R55H;ENSP00000379797:R55H;ENSP00000405498:R55H;ENSP00000365847:R55H;ENSP00000379796:R55H	ENSP00000365844:R55H	R	+	2	0	TRIM39	30405237	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.462000	0.21956	0.754000	0.32968	0.561000	0.74099	CGC		0.547	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		131	558	0	0	0	1	0	131	558				
ZSWIM5	57643	broad.mit.edu	37	1	45504624	45504624	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45504624G>T	ENST00000359600.5	-	8	2083	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	626						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTCCAGATAGCCATCATCAT	0.552																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1876-1878)ggC>ggA		zinc finger, SWIM-type containing 5							51.0	52.0	52.0					1																	45504624		1988	4174	6162	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45504624G>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1878C>A	1.37:g.45504624G>T							p.G626G	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			8	2083	-	Acute lymphoblastic leukemia(166;0.155)		626					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.1878C>A	CCDS41319.1																																																																																				0.552	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		18	209	1	0	1.02788e-11	1	1.09837e-11	18	209				
AGXT	189	broad.mit.edu	37	2	241808766	241808766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241808766C>T	ENST00000307503.3	+	2	732	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	115					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CCGTGGACATCGGGGAGCGCA	0.657																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(343-345)atC>atT		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						55.0	56.0	56.0					2																	241808766		2203	4300	6503	SO:0001819	synonymous_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241808766C>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.345C>T	2.37:g.241808766C>T							p.I115I	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	732	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	115					Q53QU6	Silent	SNP	ENST00000307503.3	37	c.345C>T	CCDS2543.1																																																																																				0.657	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		60	343	0	0	0	1	0	60	343				
DCUN1D4	23142	broad.mit.edu	37	4	52740484	52740484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740484C>T	ENST00000334635.5	+	4	364	c.184C>T	c.(184-186)Cca>Tca	p.P62S	DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	62						nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TAAAGTGATGCCACCAAGGAA	0.393																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(184-186)Cca>Tca		DCN1, defective in cullin neddylation 1, domain containing 4							127.0	124.0	125.0					4																	52740484		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52740484C>T	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.184C>T	4.37:g.52740484C>T	ENSP00000334625:p.Pro62Ser					DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S	p.P62S	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		4	364	+			62					B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.184C>T	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.365101	0.82463	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.18	5.18	0.71444	.	0.165490	0.53938	D	0.000041	T	0.62539	0.2436	L	0.39245	1.2	0.53005	D	0.999969	B;D;B	0.58970	0.264;0.984;0.264	B;P;B	0.58780	0.093;0.845;0.178	T	0.56153	-0.8026	9	0.19590	T	0.45	-15.7428	15.8845	0.79232	0.0:1.0:0.0:0.0	.	106;62;62	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	S	62;62;2;106;106	.	ENSP00000334625:P62S	P	+	1	0	DCUN1D4	52435241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.207000	0.72159	2.426000	0.82243	0.651000	0.88453	CCA		0.393	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		73	330	0	0	0	1	0	73	330				
PTGDS	5730	broad.mit.edu	37	9	139873809	139873809	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873809C>T	ENST00000371625.3	+	3	405				PTGDS_ENST00000460340.1_3'UTR|RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Missense_Mutation_p.T130M	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTTGCCGGGACGACTCTGGGC	0.731																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(388-390)aCg>aTg		prostaglandin D2 synthase 21kDa (brain)							7.0	10.0	9.0					9																	139873809		686	1580	2266	SO:0001627	intron_variant	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139873809C>T	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.331+58C>T	9.37:g.139873809C>T						PTGDS_ENST00000371625.3_Intron|PTGDS_ENST00000460340.1_3'UTR	p.T130M			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	3	464	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	111					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.389C>T	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	6.653	0.489057	0.12641	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371623	T;T;T	0.52983	1.76;0.77;0.64	1.24	-1.36	0.09085	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37798	-0.9690	6	0.56958	D	0.05	.	2.4973	0.04624	0.0:0.435:0.3195:0.2455	.	.	.	.	M	130	ENSP00000224167:T130M;ENSP00000392633:T130M;ENSP00000360685:T130M	ENSP00000224167:T130M	T	+	2	0	PTGDS	138993630	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.387000	0.02535	-0.442000	0.07190	-0.494000	0.04653	ACG		0.731	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		30	160	0	0	0	1	0	30	160				
RCAN3	11123	broad.mit.edu	37	1	24859587	24859587	+	Silent	SNP	C	C	T	rs34116411	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24859587C>T	ENST00000374395.4	+	4	697	c.384C>T	c.(382-384)ggC>ggT	p.G128G	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G|RCAN3_ENST00000412742.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	128					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGATGTCCGGCGAAGTGCGGG	0.562													C|||	36	0.0071885	0.0265	0.0014	5008	,	,		12597	0.0		0.0	False		,,,				2504	0.0					ENST00000374395.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(382-384)ggC>ggT		RCAN family member 3		C		84,4322	72.0+/-110.0	0,84,2119	56.0	49.0	51.0		384	-5.4	0.0	1	dbSNP_126	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RCAN3	NM_013441.2		0,85,6418	TT,TC,CC		0.0116,1.9065,0.6535		128/242	24859587	85,12921	2203	4300	6503	SO:0001819	synonymous_variant	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24859587C>T		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.384C>T	1.37:g.24859587C>T						RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G|RCAN3_ENST00000374393.2_Intron	p.G128G	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	4	697	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	128					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Silent	SNP	ENST00000374395.4	37	c.384C>T	CCDS254.1																																																																																				0.562	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			23	132	0	0	0	1	0	23	132				
HOXC9	3225	broad.mit.edu	37	12	54394142	54394142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54394142C>T	ENST00000303450.4	+	1	240	c.170C>T	c.(169-171)cCc>cTc	p.P57L	HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L|HOXC9_ENST00000504557.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	57					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						AGCTTCGCGCCCAAGCCGGCA	0.687																																						ENST00000303450.4																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(169-171)cCc>cTc		homeobox C9							39.0	38.0	38.0					12																	54394142		2202	4299	6501	SO:0001583	missense	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54394142C>T		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.170C>T	12.37:g.54394142C>T	ENSP00000302836:p.Pro57Leu					HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L|HOXC9_ENST00000504557.1_Intron	p.P57L	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN			1	240	+			57					B2RCN7|Q9H1I0	Missense_Mutation	SNP	ENST00000303450.4	37	c.170C>T	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515582	0.85389	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.95885	-3.84;-3.84	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000001	D	0.97949	0.9325	M	0.91406	3.205	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.98931	1.0787	10	0.87932	D	0	.	15.4974	0.75666	0.0:1.0:0.0:0.0	.	57	P31274	HXC9_HUMAN	L	57	ENSP00000423861:P57L;ENSP00000302836:P57L	ENSP00000302836:P57L	P	+	2	0	HOXC9	52680409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.430000	0.80321	2.268000	0.75426	0.561000	0.74099	CCC		0.687	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			52	273	0	0	0	1	0	52	273				
ACIN1	22985	broad.mit.edu	37	14	23528517	23528517	+	Missense_Mutation	SNP	C	C	A	rs140209940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528517C>A	ENST00000262710.1	-	19	4193	c.3866G>T	c.(3865-3867)aGg>aTg	p.R1289M	ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|CDH24_ENST00000397359.3_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1289	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ctctctctccctgtccctctc	0.612											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3865-3867)aGg>aTg		apoptotic chromatin condensation inducer 1							106.0	82.0	90.0					14																	23528517		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528517C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3866G>T	14.37:g.23528517C>A	ENSP00000262710:p.Arg1289Met		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M|ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M	p.R1289M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4193	-	all_cancers(95;1.36e-05)		1289			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3866G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042506	0.55003	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.29	4.29	0.51040	.	0.000000	0.37483	N	0.002076	T	0.63558	0.2521	N	0.24115	0.695	0.45161	D	0.998177	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.982;0.982	D;D;D;P;P	0.74348	0.983;0.962;0.962;0.629;0.629	T	0.69057	-0.5246	10	0.72032	D	0.01	-8.6477	16.0217	0.80503	0.0:1.0:0.0:0.0	.	1276;1289;1249;562;531	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	M	530;562;531;1289;1249;531;1276	ENSP00000451138:R530M;ENSP00000345541:R562M;ENSP00000350073:R531M;ENSP00000262710:R1289M;ENSP00000405677:R1249M;ENSP00000380502:R531M;ENSP00000451328:R1276M	ENSP00000262710:R1289M	R	-	2	0	ACIN1	22598357	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	1.905000	0.39878	2.379000	0.81126	0.563000	0.77884	AGG		0.612	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		59	241	1	0	7.36392e-32	1	8.68075e-32	59	241				
LRBA	987	broad.mit.edu	37	4	151682954	151682954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151682954C>T	ENST00000357115.3	-	35	5869	c.5626G>A	c.(5626-5628)Gaa>Aaa	p.E1876K	LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000535741.1_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1876						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGACAAGTTCGATAAAAGCA	0.294																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5626-5628)Gaa>Aaa		LPS-responsive vesicle trafficking, beach and anchor containing							47.0	55.0	52.0					4																	151682954		2203	4285	6488	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151682954C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5626G>A	4.37:g.151682954C>T	ENSP00000349629:p.Glu1876Lys					LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000357115.3_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K	p.E1876K			P50851	LRBA_HUMAN			35	6099	-	all_hematologic(180;0.151)		1876					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5626G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632454	0.67015	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63913	0.37;0.52;0.38;-0.07	5.09	5.09	0.68999	.	0.060679	0.64402	D	0.000004	T	0.81269	0.4787	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.452;0.996	T	0.82938	-0.0209	10	0.49607	T	0.09	.	18.5067	0.90900	0.0:1.0:0.0:0.0	.	1876;1876	P50851;P50851-2	LRBA_HUMAN;.	K	1876	ENSP00000446299:E1876K;ENSP00000421552:E1876K;ENSP00000349629:E1876K;ENSP00000422180:E1876K	ENSP00000349629:E1876K	E	-	1	0	LRBA	151902404	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.128000	0.77217	2.352000	0.79861	0.655000	0.94253	GAA		0.294	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			63	372	0	0	0	1	0	63	372				
CCDC9	26093	broad.mit.edu	37	19	47763668	47763668	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47763668G>A	ENST00000221922.6	+	4	421	c.199G>A	c.(199-201)Gca>Aca	p.A67T		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	67							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGAACGTGGCAGTGGAGTC	0.622																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(199-201)Gca>Aca		coiled-coil domain containing 9							38.0	31.0	34.0					19																	47763668		2202	4298	6500	SO:0001583	missense	26093							g.chr19:47763668G>A	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.199G>A	19.37:g.47763668G>A	ENSP00000221922:p.Ala67Thr						p.A67T	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	4	421	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	67						Missense_Mutation	SNP	ENST00000221922.6	37	c.199G>A	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.764582	0.31228	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.21361	2.01	3.38	3.38	0.38709	.	0.391146	0.23398	N	0.048608	T	0.16385	0.0394	L	0.45137	1.4	0.22639	N	0.998904	P	0.40731	0.728	B	0.37888	0.26	T	0.12811	-1.0533	10	0.15952	T	0.53	-5.1606	12.1213	0.53893	0.0:0.0:1.0:0.0	.	67	Q9Y3X0	CCDC9_HUMAN	T	67	ENSP00000221922:A67T	ENSP00000221922:A67T	A	+	1	0	CCDC9	52455508	0.999000	0.42202	0.737000	0.30932	0.406000	0.30931	3.854000	0.55949	1.907000	0.55213	0.486000	0.48141	GCA		0.622	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		21	80	0	0	0	1	0	21	80				
PPP1R16B	26051	broad.mit.edu	37	20	37546928	37546928	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37546928C>T	ENST00000299824.1	+	11	1512	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PPP1R16B_ENST00000373331.2_Silent_p.N399N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	441					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CGCTGGCCAACGGGGATGTCT	0.607																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1321-1323)aaC>aaT		protein phosphatase 1, regulatory subunit 16B							156.0	149.0	151.0					20																	37546928		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37546928C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1323C>T	20.37:g.37546928C>T						PPP1R16B_ENST00000373331.2_Silent_p.N399N	p.N441N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1512	+		Myeloproliferative disorder(115;0.00878)	441					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.1323C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553955	0.13374	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.3	-2.26	0.06867	.	.	.	.	.	T	0.63082	0.2481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61471	-0.7056	4	.	.	.	.	12.7867	0.57510	0.0:0.5801:0.0:0.4199	.	.	.	.	M	342	.	.	T	+	2	0	PPP1R16B	36980342	0.131000	0.22433	0.990000	0.47175	0.795000	0.44927	-0.901000	0.04093	-0.251000	0.09542	-0.940000	0.02684	ACG		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		166	825	0	0	0	1	0	166	825				
RELN	5649	broad.mit.edu	37	7	103215993	103215993	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103215993A>G	ENST00000428762.1	-	29	4463		c.e29+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTAGCCTTACCAGTATATC	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e29+1		reelin							111.0	99.0	103.0					7																	103215993		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103215993A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4303+1T>C	7.37:g.103215993A>G						RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	29	4463	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37		CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797698	0.50208	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9441	0.79779	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103003229	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	8.910000	0.92685	2.225000	0.72522	0.460000	0.39030	.		0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	45	266	0	0	0	1	0	45	266				
WDR86	349136	broad.mit.edu	37	7	151079024	151079024	+	Silent	SNP	C	C	T	rs370137886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151079024C>T	ENST00000334493.6	-	5	1336	c.906G>A	c.(904-906)gcG>gcA	p.A302A	WDR86_ENST00000463000.1_Intron|WDR86_ENST00000477459.1_Missense_Mutation_p.R129H|WDR86_ENST00000469830.2_Missense_Mutation_p.A324T	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	302										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGACTGCGCGTCGAAGG	0.706																																						ENST00000469830.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(970-972)Gca>Aca		WD repeat domain 86		C		0,4404		0,0,2202	26.0	25.0	25.0		906	0.1	1.0	7		25	1,8595		0,1,4297	no	coding-synonymous	WDR86	NM_198285.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		302/377	151079024	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	349136							g.chr7:151079024C>T	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.906G>A	7.37:g.151079024C>T						WDR86_ENST00000477459.1_Missense_Mutation_p.R129H|WDR86_ENST00000334493.6_Silent_p.A302A|WDR86_ENST00000463000.1_Intron	p.A324T			Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1011	-			338					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.970G>A	CCDS5925.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.49|19.49	3.837177|3.837177	0.71373|0.71373	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187260|ENSG00000187260	ENST00000469830|ENST00000477459	T|T	0.61392|0.58506	0.11|0.33	4.47|4.47	0.139|0.139	0.14798|0.14798	.|.	.|0.469068	.|0.13213	.|N	.|0.405041	T|T	0.30135|0.30135	0.0755|0.0755	.|.	.|.	.|.	0.20307|0.20307	N|N	0.999919|0.999919	B|B	0.30211|0.22909	0.273|0.077	B|B	0.15052|0.09377	0.012|0.004	T|T	0.09357|0.09357	-1.0678|-1.0678	8|9	0.08837|0.20046	T|T	0.75|0.44	-12.6375|-12.6375	1.6353|1.6353	0.02740|0.02740	0.1945:0.3125:0.3458:0.1472|0.1945:0.3125:0.3458:0.1472	.|.	324|129	B4DJF1|C9JAJ5	.|.	T|H	324|129	ENSP00000419162:A324T|ENSP00000417512:R129H	ENSP00000419162:A324T|ENSP00000417512:R129H	A|R	-|-	1|2	0|0	WDR86|WDR86	150709957|150709957	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.825000|0.825000	0.46686|0.46686	0.142000|0.142000	0.16096|0.16096	0.325000|0.325000	0.23359|0.23359	0.313000|0.313000	0.20887|0.20887	GCA|CGC		0.706	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		17	91	0	0	0	1	0	17	91				
SKIV2L2	23517	broad.mit.edu	37	5	54706447	54706447	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54706447T>G	ENST00000230640.5	+	23	2995	c.2741T>G	c.(2740-2742)tTt>tGt	p.F914C	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	914					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCTTTGTGTTTCAAGAGAAT	0.323																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2740-2742)tTt>tGt		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							164.0	147.0	153.0					5																	54706447		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54706447T>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2741T>G	5.37:g.54706447T>G	ENSP00000230640:p.Phe914Cys					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	p.F914C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			23	2995	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	914					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.2741T>G	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758141	0.49468	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.25749	1.78;1.78	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.33093	0.98	0.80722	D	1	B;B	0.23650	0.07;0.089	B;B	0.29353	0.043;0.101	T	0.03717	-1.1010	10	0.35671	T	0.21	-32.1727	15.1757	0.72910	0.0:0.0:0.0:1.0	.	813;914	F5H7E2;P42285	.;SK2L2_HUMAN	C	914;813	ENSP00000230640:F914C;ENSP00000442583:F813C	ENSP00000230640:F914C	F	+	2	0	SKIV2L2	54742204	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.549000	0.82163	2.047000	0.60756	0.482000	0.46254	TTT		0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			69	356	0	0	0	1	0	69	356				
MFSD12	126321	broad.mit.edu	37	19	3547282	3547282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3547282G>A	ENST00000355415.2	-	6	1180	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'Flank|MFSD12_ENST00000389395.3_Silent_p.C337C|MFSD12_ENST00000398558.4_Silent_p.C337C	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	337					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCCTCCCAATGCACTTGTTGA	0.637																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(1009-1011)tgC>tgT		major facilitator superfamily domain containing 12							68.0	73.0	71.0					19																	3547282		2004	4162	6166	SO:0001819	synonymous_variant	126321				transmembrane transport	integral to membrane		g.chr19:3547282G>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.1011C>T	19.37:g.3547282G>A						AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Silent_p.C337C|MFSD12_ENST00000389395.3_Silent_p.C337C	p.C337C	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			6	1180	-			337					A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	c.1011C>T	CCDS42465.1																																																																																				0.637	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		64	415	0	0	0	1	0	64	415				
TGFBR2	7048	broad.mit.edu	37	3	30729950	30729950	+	Missense_Mutation	SNP	G	G	A	rs397516493		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30729950G>A	ENST00000295754.5	+	6	1853	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGGACAACGTGTTGAGAGA	0.488																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1471-1473)Gtg>Atg		transforming growth factor, beta receptor II (70/80kDa)							124.0	115.0	118.0					3																	30729950		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30729950G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1471G>A	3.37:g.30729950G>A	ENSP00000295754:p.Val491Met					TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	p.V491M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			6	1853	+			491			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1471G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232553	0.95207	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67345	-0.26;-0.26	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86550	0.1834	10	0.87932	D	0	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	491;516	P37173;D2JYI1	TGFR2_HUMAN;.	M	491;516;321	ENSP00000295754:V491M;ENSP00000351905:V516M	ENSP00000295754:V491M	V	+	1	0	TGFBR2	30704954	1.000000	0.71417	0.802000	0.32245	0.993000	0.82548	9.577000	0.98196	2.682000	0.91365	0.591000	0.81541	GTG		0.488	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			69	320	0	0	0	1	0	69	320				
CCDC60	160777	broad.mit.edu	37	12	119957964	119957964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119957964C>T	ENST00000327554.2	+	9	1472	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	336										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTAATTCTGCTTATAAGGAA	0.473																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)gCt>gTt		coiled-coil domain containing 60							169.0	165.0	166.0					12																	119957964		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119957964C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1007C>T	12.37:g.119957964C>T	ENSP00000333374:p.Ala336Val					RP11-768F21.1_ENST00000509470.2_lincRNA	p.A336V	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	9	1472	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		336						Missense_Mutation	SNP	ENST00000327554.2	37	c.1007C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171345	0.06421	.	.	ENSG00000183273	ENST00000327554	T	0.22743	1.94	3.75	-0.352	0.12598	.	1.142040	0.06595	N	0.752738	T	0.15739	0.0379	L	0.44542	1.39	0.09310	N	1	B	0.25904	0.137	B	0.24269	0.052	T	0.33420	-0.9869	9	.	.	.	-0.9919	3.5628	0.07889	0.0:0.4639:0.1939:0.3421	.	336	Q8IWA6	CCD60_HUMAN	V	336	ENSP00000333374:A336V	.	A	+	2	0	CCDC60	118442347	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.191000	0.09601	-0.063000	0.13065	-0.150000	0.13652	GCT		0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		78	829	0	0	0	1	0	78	829				
KPRP	448834	broad.mit.edu	37	1	152733397	152733397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152733397C>T	ENST00000606109.1	+	1	1361	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KPRP_ENST00000368773.1_Missense_Mutation_p.R445W			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAACACCGCGGCCAGTTCC	0.582																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1333-1335)Cgg>Tgg		keratinocyte proline-rich protein							172.0	173.0	173.0					1																	152733397		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733397C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1333C>T	1.37:g.152733397C>T	ENSP00000475216:p.Arg445Trp					KPRP_ENST00000606109.1_Missense_Mutation_p.R445W	p.R445W	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1391	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		445			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1333C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	5.697	0.313134	0.10789	.	.	ENSG00000203786	ENST00000368773	T	0.15952	2.38	1.66	-3.18	0.05186	.	0.339830	0.21778	N	0.069258	T	0.02193	0.0068	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36138	-0.9760	10	0.48119	T	0.1	-4.7283	4.4444	0.11589	0.0:0.287:0.1788:0.5342	.	445	Q5T749	KPRP_HUMAN	W	445	ENSP00000357762:R445W	ENSP00000357762:R445W	R	+	1	2	KPRP	151000021	0.049000	0.20398	0.008000	0.14137	0.028000	0.11728	0.165000	0.16564	-1.060000	0.03189	-0.448000	0.05591	CGG		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		18	890	0	0	0	1	0	18	890				
CRADD	8738	broad.mit.edu	37	12	94072579	94072579	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072579G>A	ENST00000542893.2	+	2	347	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CRADD_ENST00000552983.1_Missense_Mutation_p.R10H|CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000548483.1_Missense_Mutation_p.R10H|CRADD_ENST00000541813.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	10	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CAAGTACTCCGCTCACTTCGC	0.483																																						ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(28-30)cGc>cAc		CASP2 and RIPK1 domain containing adaptor with death domain							71.0	67.0	69.0					12																	94072579		2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94072579G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.29G>A	12.37:g.94072579G>A	ENSP00000439068:p.Arg10His					CRADD_ENST00000541813.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H|CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000548483.1_Missense_Mutation_p.R10H|CRADD_ENST00000552983.1_Missense_Mutation_p.R10H	p.R10H			P78560	CRADD_HUMAN			2	347	+			10			CARD.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.29G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963985	0.92791	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.58177	-0.7682	10	0.72032	D	0.01	-7.4989	18.7029	0.91627	0.0:0.0:1.0:0.0	.	10;10	F5H7C2;P78560	.;CRADD_HUMAN	H	10	ENSP00000449570:R10H;ENSP00000327647:R10H;ENSP00000449664:R10H;ENSP00000448685:R10H;ENSP00000439068:R10H;ENSP00000442624:R10H	ENSP00000327647:R10H	R	+	2	0	CRADD	92596710	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	8.787000	0.91830	2.403000	0.81681	0.655000	0.94253	CGC		0.483	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		50	187	0	0	0	1	0	50	187				
ATP6AP1L	92270	broad.mit.edu	37	5	81608455	81608455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81608455T>C	ENST00000380167.4	+	9	1482	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.L53L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	53					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTACAACAAGTTGTCCATCCA	0.418											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380167.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(157-159)Ttg>Ctg		ATPase, H+ transporting, lysosomal accessory protein 1-like							176.0	172.0	173.0					5																	81608455		2203	4300	6503	SO:0001819	synonymous_variant	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608455T>C	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.157T>C	5.37:g.81608455T>C			OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.L53L	p.L53L			Q52LC2	VAS1L_HUMAN			9	1482	+			53						Silent	SNP	ENST00000380167.4	37	c.157T>C	CCDS34196.1																																																																																				0.418	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		143	626	0	0	0	1	0	143	626				
PCM1	5108	broad.mit.edu	37	8	17869310	17869310	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17869310A>G	ENST00000519253.1	+	34	5712	c.5461A>G	c.(5461-5463)Act>Gct	p.T1821A	PCM1_ENST00000325083.8_Missense_Mutation_p.T1829A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A|PCM1_ENST00000327578.8_Missense_Mutation_p.T528A			Q15154	PCM1_HUMAN	pericentriolar material 1	1829					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CACTGAAGCTACTGAAGAAAA	0.393			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(5485-5487)Act>Gct		pericentriolar material 1							132.0	134.0	133.0					8																	17869310		1920	4127	6047	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17869310A>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5461A>G	8.37:g.17869310A>G	ENSP00000431099:p.Thr1821Ala					PCM1_ENST00000327578.8_Missense_Mutation_p.T528A|PCM1_ENST00000519253.1_Missense_Mutation_p.T1821A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A	p.T1829A	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	34	5924	+			1829					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.5485A>G		.	.	.	.	.	.	.	.	.	.	A	7.488	0.649995	0.14516	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.32	1.26	0.21427	.	0.627807	0.17034	N	0.189614	T	0.27967	0.0689	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.001;0.0;0.001;0.001;0.003;0.001	B;B;B;B;B;B;B	0.09377	0.002;0.002;0.003;0.002;0.001;0.004;0.002	T	0.18840	-1.0324	10	0.18276	T	0.48	-2.9531	5.6939	0.17845	0.4667:0.1901:0.3432:0.0	.	1821;1829;628;1821;1774;1775;1829	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154	.;.;.;.;.;.;PCM1_HUMAN	A	1829;1821;1775;528	ENSP00000327077:T1829A;ENSP00000431099:T1821A;ENSP00000430521:T1775A;ENSP00000328332:T528A	ENSP00000327077:T1829A	T	+	1	0	PCM1	17913590	0.000000	0.05858	0.864000	0.33941	0.897000	0.52465	-0.088000	0.11198	0.415000	0.25817	0.533000	0.62120	ACT		0.393	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		36	172	0	0	0	1	0	36	172				
PLEC	5339	broad.mit.edu	37	8	144991545	144991545	+	Silent	SNP	C	C	T	rs143548638	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991545C>T	ENST00000322810.4	-	32	13024	c.12855G>A	c.(12853-12855)acG>acA	p.T4285T	PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000398774.2_Silent_p.T4116T|PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000357649.2_Silent_p.T4152T|PLEC_ENST00000436759.2_Silent_p.T4175T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000354958.2_Silent_p.T4126T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4285	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCTTGCCCGTCTCGGGGT	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		19843	0.0		0.002	False		,,,				2504	0.002					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12853-12855)acG>acA		plectin		C	,,,,,,,	0,4282		0,0,2141	74.0	82.0	79.0		12525,12402,12378,12855,12348,12444,12456,12444	-2.4	1.0	8	dbSNP_134	79	1,8483		0,1,4241	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,1,6382	TT,TC,CC		0.0118,0.0,0.0078	,,,,,,,	4175/4575,4134/4534,4126/4526,4285/4685,4116/4516,4148/4548,4152/4552,4148/4548	144991545	1,12765	2141	4242	6383	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991545C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12855G>A	8.37:g.144991545C>T						PLEC_ENST00000357649.2_Silent_p.T4152T|PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000398774.2_Silent_p.T4116T|PLEC_ENST00000354958.2_Silent_p.T4126T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000436759.2_Silent_p.T4175T	p.T4285T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13024	-			4285			Binding to intermediate filaments (By similarity).|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12855G>A	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		71	328	0	0	0	1	0	71	328				
ZNF800	168850	broad.mit.edu	37	7	127014937	127014937	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014937A>G	ENST00000393313.1	-	5	1044	c.453T>C	c.(451-453)gaT>gaC	p.D151D	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Silent_p.D151D|ZNF800_ENST00000393312.1_Silent_p.D151D			Q2TB10	ZN800_HUMAN	zinc finger protein 800	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAATAGGATTATCAGTCCTCG	0.368																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(451-453)gaT>gaC		zinc finger protein 800							115.0	110.0	111.0					7																	127014937		2203	4300	6503	SO:0001819	synonymous_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014937A>G	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.453T>C	7.37:g.127014937A>G						ZNF800_ENST00000265827.3_Silent_p.D151D|ZNF800_ENST00000393312.1_Silent_p.D151D	p.D151D			Q2TB10	ZN800_HUMAN			5	1044	-			151					Q9HBN0	Silent	SNP	ENST00000393313.1	37	c.453T>C	CCDS5795.1																																																																																				0.368	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		71	387	0	0	0	1	0	71	387				
RABL2A	11159	broad.mit.edu	37	2	114398497	114398497	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114398497C>A	ENST00000393167.3	+	6	549	c.324C>A	c.(322-324)acC>acA	p.T108T	RABL2A_ENST00000409875.1_Silent_p.T108T|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393165.3_Silent_p.T108T|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000409842.1_Intron	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	108					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GGAAAGTCACCTATAGGAACC	0.502																																						ENST00000409875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						c.(322-324)acC>acA		RAB, member of RAS oncogene family-like 2A							91.0	85.0	87.0					2																	114398497		2201	4299	6500	SO:0001819	synonymous_variant	11159				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:114398497C>A		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.324C>A	2.37:g.114398497C>A						RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000393167.3_Silent_p.T108T|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393165.3_Silent_p.T108T|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR	p.T108T			Q9UBK7	RBL2A_HUMAN			7	626	+			108					B7ZBD6|Q9NU37	Silent	SNP	ENST00000393167.3	37	c.324C>A	CCDS2118.1																																																																																				0.502	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2			57	346	1	0	2.03652e-46	1	2.50201e-46	57	346				
CDK9	1025	broad.mit.edu	37	9	130551610	130551610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130551610C>T	ENST00000373264.4	+	7	1007	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	CDK9_ENST00000373265.2_Missense_Mutation_p.R420C	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.R303C(1)		lung(1)	1						CCCTGCCCAGCGCATCGACAG	0.617																																						ENST00000373265.2																			1	Substitution - Missense(1)	p.R303C(1)	endometrium(1)	lung(1)	1						c.(1258-1260)Cgc>Tgc		cyclin-dependent kinase 9							161.0	96.0	118.0					9																	130551610		2203	4300	6503	SO:0001583	missense	1025				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr9:130551610C>T	L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"""Cyclin-dependent kinases"""	1780	protein-coding gene	gene with protein product		603251	"""cyclin-dependent kinase 9 (CDC2-related kinase)"""	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.907C>T	9.37:g.130551610C>T	ENSP00000362361:p.Arg303Cys					CDK9_ENST00000373264.4_Missense_Mutation_p.R303C	p.R420C			P50750	CDK9_HUMAN			7	1258	+			303					Q5JU24|Q5JU25|Q5U006|Q96TF1	Missense_Mutation	SNP	ENST00000373264.4	37	c.1258C>T	CCDS6879.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127329	0.77549	.	.	ENSG00000136807	ENST00000373265;ENST00000373264	T;T	0.74947	-0.89;-0.89	5.52	4.61	0.57282	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.92468	0.5983	10	0.87932	D	0	-8.2494	8.841	0.35142	0.1461:0.7767:0.0:0.0772	.	303	P50750	CDK9_HUMAN	C	420;303	ENSP00000362362:R420C;ENSP00000362361:R303C	ENSP00000362361:R303C	R	+	1	0	CDK9	129591431	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.550000	0.45811	2.587000	0.87381	0.591000	0.81541	CGC		0.617	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054235.1			86	264	0	0	0	1	0	86	264				
FRMD4A	55691	broad.mit.edu	37	10	13743470	13743470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13743470A>G	ENST00000357447.2	-	14	1213	c.845T>C	c.(844-846)gTg>gCg	p.V282A	FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A|FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	282	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTCCTTGTCACTGAAGCCCT	0.512																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(844-846)gTg>gCg		FERM domain containing 4A							147.0	132.0	137.0					10																	13743470		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13743470A>G	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.845T>C	10.37:g.13743470A>G	ENSP00000350032:p.Val282Ala					FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A	p.V282A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			14	1213	-			282			FERM.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.845T>C	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268444	0.59540	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.75;-1.76	5.34	5.34	0.76211	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	L	0.38531	1.155	0.80722	D	1	B;B;P	0.42123	0.106;0.234;0.771	B;B;P	0.44422	0.147;0.135;0.449	T	0.78753	-0.2081	10	0.19590	T	0.45	-18.9258	15.6255	0.76851	1.0:0.0:0.0:0.0	.	298;315;282	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	A	267;282;282;315;298	ENSP00000351438:V267A;ENSP00000350032:V282A;ENSP00000367764:V282A;ENSP00000264546:V315A;ENSP00000344237:V298A	ENSP00000264546:V315A	V	-	2	0	FRMD4A	13783476	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	9.339000	0.96797	2.144000	0.66660	0.533000	0.62120	GTG		0.512	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		79	391	0	0	0	1	0	79	391				
MYO3B	140469	broad.mit.edu	37	2	171225744	171225744	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171225744G>T	ENST00000408978.4	+	9	971	c.828G>T	c.(826-828)aaG>aaT	p.K276N	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000334231.6_Missense_Mutation_p.K285N	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTCTTATTAAGGATTTTGAAA	0.413																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(853-855)aaG>aaT		myosin IIIB							145.0	130.0	135.0					2																	171225744		1839	4093	5932	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171225744G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.828G>T	2.37:g.171225744G>T	ENSP00000386213:p.Lys276Asn					MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.K276N	p.K285N			Q8WXR4	MYO3B_HUMAN			9	855	+			276			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.855G>T	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.99|18.99	3.740166|3.740166	0.69304|0.69304	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.15718	.|2.4;2.4;2.4;2.4	6.06|6.06	2.85|2.85	0.33270|0.33270	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.45856	.|0.1363	M|M	0.89840|0.89840	3.065|3.065	0.44862|0.44862	D|D	0.997871|0.997871	.|D;D;D;D	.|0.89917	.|0.991;0.997;1.0;0.997	.|P;D;D;D	.|0.97110	.|0.86;0.942;1.0;0.914	.|T	.|0.46693	.|-0.9173	.|10	.|0.87932	.|D	.|0	.|.	10.1377|10.1377	0.42717|0.42717	0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0	.|.	.|276;276;276;276	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	X|N	276|276;276;275;285;285	.|ENSP00000386497:K276N;ENSP00000386213:K276N;ENSP00000446237:K285N;ENSP00000335100:K285N	.|ENSP00000314213:K275N	G|K	+|+	1|3	0|2	MYO3B|MYO3B	170933990|170933990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.400000|2.400000	0.44504|0.44504	0.272000|0.272000	0.22027|0.22027	-0.145000|-0.145000	0.13849|0.13849	GGA|AAG		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			91	267	1	0	7.90906e-34	1	9.3893e-34	91	267				
SULT4A1	25830	broad.mit.edu	37	22	44234874	44234874	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44234874C>A	ENST00000330884.4	-	4	502		c.e4-1		SULT4A1_ENST00000249130.5_Splice_Site|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TATAGATGACCTGTGGGTGAC	0.582																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.e4-1		sulfotransferase family 4A, member 1							120.0	89.0	99.0					22																	44234874		2203	4300	6503	SO:0001630	splice_region_variant	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44234874C>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.382-1G>T	22.37:g.44234874C>A						SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Splice_Site		NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	4	502	-		Ovarian(80;0.024)|all_neural(38;0.0416)						B2R7N3|O43728	Splice_Site	SNP	ENST00000330884.4	37		CCDS14051.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726121	0.69074	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7041	0.85367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT4A1	42566207	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.396000	0.79891	2.175000	0.68902	0.655000	0.94253	.		0.582	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351	Intron	62	260	1	0	1.08241e-25	1	1.24348e-25	62	260				
DNAH2	146754	broad.mit.edu	37	17	7660422	7660422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7660422C>T	ENST00000572933.1	+	13	3378	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	RPL29P2_ENST00000498671.1_RNA|DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	640	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTCTGATTCTCTTTGCGGA	0.567																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1918-1920)Ctc>Ttc		dynein, axonemal, heavy chain 2							195.0	191.0	192.0					17																	7660422		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7660422C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1918C>T	17.37:g.7660422C>T	ENSP00000458355:p.Leu640Phe					DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F	p.L640F			Q9P225	DYH2_HUMAN			13	3378	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	640			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1918C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716165	0.48622	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.65364	-0.15	4.96	4.96	0.65561	Dynein heavy chain, domain-1 (1);	0.163839	0.41097	D	0.000952	T	0.77103	0.4081	M	0.85710	2.77	0.80722	D	1	D	0.63046	0.992	D	0.73380	0.98	T	0.79327	-0.1849	10	0.72032	D	0.01	.	6.3087	0.21153	0.1845:0.7244:0.0:0.0911	.	640	Q9P225	DYH2_HUMAN	F	640	ENSP00000373825:L640F	ENSP00000353818:L640F	L	+	1	0	DNAH2	7601147	0.879000	0.30193	1.000000	0.80357	0.519000	0.34347	1.072000	0.30678	2.578000	0.87016	0.491000	0.48974	CTC		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		315	1289	0	0	0	1	0	315	1289				
KSR1	8844	broad.mit.edu	37	17	25932780	25932780	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25932780G>A	ENST00000319524.6	+	15	2001	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	KSR1_ENST00000268763.6_Silent_p.E530E|KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000398988.3_Silent_p.E530E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	667	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGCGGCATGAGAACGTGGTGC	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1588-1590)gaG>gaA		kinase suppressor of ras 1							20.0	22.0	21.0					17																	25932780		2044	4187	6231	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932780G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2001G>A	17.37:g.25932780G>A						KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000319524.6_Silent_p.E667E|KSR1_ENST00000268763.6_Silent_p.E530E	p.E530E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	2035	+	Lung NSC(42;0.00836)		665					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1590G>A		.	.	.	.	.	.	.	.	.	.	G	8.744	0.919764	0.17982	.	.	ENSG00000141068	ENST00000398988	T	0.79454	-1.27	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66019	-0.6027	7	0.18710	T	0.47	.	11.3617	0.49646	0.1457:0.0:0.8543:0.0	.	.	.	.	K	381	ENSP00000381958:E381K	ENSP00000381958:E381K	E	+	1	0	KSR1	22956907	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.664000	0.68045	0.768000	0.33290	-0.140000	0.14226	GAA		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		26	118	0	0	0	1	0	26	118				
LMAN1L	79748	broad.mit.edu	37	15	75114202	75114202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75114202C>T	ENST00000309664.5	+	10	1231	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	LMAN1L_ENST00000379709.3_Silent_p.T352T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	364						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATCCACCCCAGGGAGGG	0.607																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1090-1092)acC>acT		lectin, mannose-binding, 1 like							75.0	73.0	74.0					15																	75114202		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75114202C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1092C>T	15.37:g.75114202C>T						LMAN1L_ENST00000379709.3_Silent_p.T352T|RP11-414J4.2_ENST00000564823.1_RNA	p.T364T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			10	1231	+			364					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1092C>T	CCDS10270.1																																																																																				0.607	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			78	429	0	0	0	1	0	78	429				
MUC5B	727897	broad.mit.edu	37	11	1254494	1254494	+	Missense_Mutation	SNP	G	G	A	rs375763678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1254494G>A	ENST00000529681.1	+	18	2375	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V776M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	773					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGAGGGCGCCGTGTGGTAAGG	0.697																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2326-2328)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming							6.0	8.0	7.0					11																	1254494		1872	4057	5929	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1254494G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2317G>A	11.37:g.1254494G>A	ENSP00000436812:p.Val773Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V773M	p.V776M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	18	2384	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	773					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.2326G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.866	1.197696	0.22037	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22539	1.95;1.95	4.99	-1.4	0.08968	.	.	.	.	.	T	0.14313	0.0346	L	0.39397	1.21	0.09310	N	1	P;D;D	0.54047	0.487;0.964;0.964	B;B;B	0.39660	0.015;0.306;0.306	T	0.19745	-1.0296	9	0.87932	D	0	.	6.3433	0.21335	0.427:0.1201:0.4529:0.0	.	773;1432;776	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	M	773;776;774;809	ENSP00000436812:V773M;ENSP00000415793:V776M	ENSP00000343037:V774M	V	+	1	0	MUC5B	1211070	0.036000	0.19791	0.059000	0.19551	0.001000	0.01503	0.405000	0.21015	-0.063000	0.13065	-0.373000	0.07131	GTG		0.697	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		13	37	0	0	0	1	0	13	37				
UNC13A	23025	broad.mit.edu	37	19	17752235	17752235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17752235C>T	ENST00000519716.2	-	21	2602	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R956H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	868					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACGCCGTAGCGCATGGCAAA	0.572																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2866-2868)cGc>cAc		unc-13 homolog A (C. elegans)							97.0	99.0	98.0					19																	17752235		2180	4283	6463	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17752235C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2603G>A	19.37:g.17752235C>T	ENSP00000429562:p.Arg868His					UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000519716.2_Missense_Mutation_p.R868H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H	p.R956H			Q9UPW8	UN13A_HUMAN			22	2866	-			868					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2867G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	21.1	4.097947	0.76870	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84298	-1.81;-1.82;-1.8;-1.67;-1.71;-1.83	3.0	3.0	0.34707	.	0.000000	0.64402	U	0.000005	D	0.91250	0.7242	M	0.82056	2.57	0.44042	D	0.996771	D	0.89917	1.0	D	0.87578	0.998	D	0.91487	0.5209	10	0.54805	T	0.06	-10.0808	11.8562	0.52439	0.0:1.0:0.0:0.0	.	868	Q9UPW8	UN13A_HUMAN	H	868;956;868;868;868;866	ENSP00000429562:R868H;ENSP00000400409:R956H;ENSP00000252773:R868H;ENSP00000447236:R868H;ENSP00000447572:R868H;ENSP00000446831:R866H	ENSP00000252773:R868H	R	-	2	0	UNC13A	17613235	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.467000	0.80930	1.706000	0.51276	0.299000	0.19835	CGC		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		48	214	0	0	0	1	0	48	214				
CPZ	8532	broad.mit.edu	37	4	8616132	8616132	+	Silent	SNP	G	G	A	rs376761004		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8616132G>A	ENST00000360986.4	+	9	1584	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	CPZ_ENST00000382480.2_Silent_p.T333T|CPZ_ENST00000429646.2_Silent_p.T78T|CPZ_ENST00000315782.6_Silent_p.T459T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	470					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTGAGATCACGGTAGAGCTGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17163	0.0		0.0	False		,,,				2504	0.001					ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(232-234)acG>acA		carboxypeptidase Z		G	,,	0,4406		0,0,2203	154.0	134.0	141.0		1410,999,1377	-9.5	0.0	4		141	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	470/653,333/516,459/642	8616132	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8616132G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1410G>A	4.37:g.8616132G>A						CPZ_ENST00000360986.4_Silent_p.T470T|CPZ_ENST00000382480.2_Silent_p.T333T|CPZ_ENST00000315782.6_Silent_p.T459T	p.T78T			Q66K79	CBPZ_HUMAN			7	3027	+			470			FZ.		O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.234G>A	CCDS33953.1																																																																																				0.572	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		75	337	0	0	0	1	0	75	337				
DCLK1	9201	broad.mit.edu	37	13	36686204	36686204	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686204C>T	ENST00000360631.3	-	3	736	c.525G>A	c.(523-525)gaG>gaA	p.E175E	DCLK1_ENST00000255448.4_Silent_p.E175E|DCLK1_ENST00000379892.4_Silent_p.E175E			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	175					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTCTCGCACCTCTGAAGGGC	0.527																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(523-525)gaG>gaA		doublecortin-like kinase 1							122.0	118.0	120.0					13																	36686204		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686204C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.525G>A	13.37:g.36686204C>T						DCLK1_ENST00000360631.3_Silent_p.E175E|DCLK1_ENST00000379892.4_Silent_p.E175E	p.E175E	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	736	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	175					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.525G>A																																																																																					0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		86	541	0	0	0	1	0	86	541				
CDH8	1006	broad.mit.edu	37	16	61891126	61891126	+	Silent	SNP	G	G	A	rs113885361	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61891126G>A	ENST00000577390.1	-	4	1518	c.564C>T	c.(562-564)aaC>aaT	p.N188N	CDH8_ENST00000299345.6_Silent_p.N188N|CDH8_ENST00000584337.1_Silent_p.N188N|CDH8_ENST00000577730.1_Silent_p.N188N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCGCAGTGACGTTAGTGACAG	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		16997	0.002		0.0	False		,,,				2504	0.0					ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(562-564)aaC>aaT		cadherin 8, type 2							68.0	62.0	64.0					16																	61891126		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891126G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.564C>T	16.37:g.61891126G>A						CDH8_ENST00000299345.6_Silent_p.N188N|CDH8_ENST00000584337.1_Silent_p.N188N|CDH8_ENST00000577730.1_Silent_p.N188N	p.N188N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	4	1518	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	188			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.564C>T	CCDS10802.1																																																																																				0.363	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		12	234	0	0	0	1	0	12	234				
CTTN	2017	broad.mit.edu	37	11	70256068	70256068	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70256068T>C	ENST00000301843.8	+	5	497		c.e5+2		CTTN_ENST00000346329.3_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000527622.1_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ATGGATAAGGTAAGTGGCCCG	0.522																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.e5+2		cortactin							139.0	139.0	139.0					11																	70256068		2200	4294	6494	SO:0001630	splice_region_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70256068T>C	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.291+2T>C	11.37:g.70256068T>C						CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000301843.8_Splice_Site		NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	5	599	+								Q8N707|Q96H99	Splice_Site	SNP	ENST00000301843.8	37		CCDS41680.1	.	.	.	.	.	.	.	.	.	.	T	9.232	1.036166	0.19590	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000415461	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4978	0.67700	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTTN	69933716	1.000000	0.71417	0.073000	0.20177	0.021000	0.10359	4.852000	0.62904	1.873000	0.54277	0.460000	0.39030	.		0.522	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	Intron	23	747	0	0	0	1	0	23	747				
UBXN4	23190	broad.mit.edu	37	2	136540441	136540441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136540441C>T	ENST00000272638.9	+	13	1822	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	504					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AATGGAAATTCCACTCAACAG	0.348																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1510-1512)tCc>tTc		UBX domain protein 4							104.0	102.0	103.0					2																	136540441		1850	4100	5950	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136540441C>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1511C>T	2.37:g.136540441C>T	ENSP00000272638:p.Ser504Phe					UBXN4_ENST00000490163.1_3'UTR	p.S504F	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			13	1822	+			504					A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.1511C>T	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460317	0.84317	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.75050	-0.9	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89257	0.3595	10	0.87932	D	0	.	19.3516	0.94389	0.0:1.0:0.0:0.0	.	504	Q92575	UBXN4_HUMAN	F	504;486	ENSP00000272638:S504F	ENSP00000272638:S504F	S	+	2	0	UBXN4	136256911	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.430000	0.80321	2.557000	0.86248	0.643000	0.83706	TCC		0.348	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		152	381	0	0	0	1	0	152	381				
PCGF3	10336	broad.mit.edu	37	4	727471	727471	+	Start_Codon_SNP	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:727471T>C	ENST00000362003.5	+	4	397	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PCGF3_ENST00000505655.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000470161.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000400151.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000521023.2_5'UTR	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AAGCCAAAGATGTTGACCAGG	0.552																																						ENST00000362003.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						c.(1-3)aTg>aCg		polycomb group ring finger 3							80.0	89.0	86.0					4																	727471		2136	4225	6361	SO:0001582	initiator_codon_variant	10336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	g.chr4:727471T>C	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.2T>C	4.37:g.727471T>C	ENSP00000354724:p.Met1Thr					PCGF3_ENST00000505655.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000470161.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000400151.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000521023.2_5'UTR	p.M1T	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN			4	397	+			1					D3DVN1|O15262	Translation_Start_Site	SNP	ENST00000362003.5	37	c.2T>C	CCDS3339.2	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938236	0.52972	.	.	ENSG00000185619	ENST00000419774;ENST00000362003;ENST00000427463;ENST00000470161;ENST00000400151;ENST00000433814;ENST00000505655	T;T;T;T;T;T;T	0.51325	0.78;0.94;0.95;0.94;0.71;0.97;0.94	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	.	.	.	0.80722	D	1	P	0.40431	0.717	P	0.49047	0.599	T	0.61019	-0.7147	9	0.72032	D	0.01	-49.9347	13.7178	0.62708	0.0:0.0:0.0:1.0	.	1	Q3KNV8	PCGF3_HUMAN	T	1	ENSP00000416279:M1T;ENSP00000354724:M1T;ENSP00000401431:M1T;ENSP00000420489:M1T;ENSP00000383015:M1T;ENSP00000398493:M1T;ENSP00000423393:M1T	ENSP00000354724:M1T	M	+	2	0	PCGF3	717471	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.176000	0.77643	2.186000	0.69663	0.533000	0.62120	ATG		0.552	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315	Missense_Mutation	78	448	0	0	0	1	0	78	448				
EGR2	1959	broad.mit.edu	37	10	64573594	64573594	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573594G>T	ENST00000242480.3	-	2	1129	c.804C>A	c.(802-804)atC>atA	p.I268I	EGR2_ENST00000411732.1_Silent_p.I218I|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Silent_p.I268I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	268			I -> N (in CHN). {ECO:0000269|PubMed:9537424}.		brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAAAGTTACGGATTGTAGAGA	0.652																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(802-804)atC>atA		early growth response 2							27.0	31.0	30.0					10																	64573594		2196	4289	6485	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573594G>T	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.804C>A	10.37:g.64573594G>T						EGR2_ENST00000439032.1_Silent_p.I268I|EGR2_ENST00000411732.1_Silent_p.I218I	p.I268I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	1129	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		268		I -> N (in CHN).			B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.804C>A	CCDS7267.1																																																																																				0.652	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		54	287	1	0	9.57592e-29	1	1.11608e-28	54	287				
LAPTM4B	55353	broad.mit.edu	37	8	98827618	98827618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98827618G>A	ENST00000521545.2	+	3	508	c.274G>A	c.(274-276)Gga>Aga	p.G92R	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.G183R			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	236					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GGCTACTTACGGAGCGTACAA	0.418																																						ENST00000445593.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10						c.(547-549)Gga>Aga		lysosomal protein transmembrane 4 beta							126.0	116.0	120.0					8																	98827618		2203	4300	6503	SO:0001583	missense	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98827618G>A	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.274G>A	8.37:g.98827618G>A	ENSP00000428409:p.Gly92Arg					LAPTM4B_ENST00000521545.2_Missense_Mutation_p.G92R	p.G183R	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		3	1227	+	Breast(36;1.59e-06)		236					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000521545.2	37	c.547G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.872607	0.91587	.	.	ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545	T;T	0.47177	0.85;0.85	5.81	5.81	0.92471	.	0.055694	0.64402	D	0.000001	T	0.72906	0.3519	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76418	-0.2966	10	0.72032	D	0.01	-12.4055	16.9823	0.86332	0.0:0.0:1.0:0.0	.	236	Q86VI4	LAP4B_HUMAN	R	183;229;92	ENSP00000402301:G183R;ENSP00000428409:G92R	ENSP00000367995:G229R	G	+	1	0	LAPTM4B	98896794	1.000000	0.71417	0.939000	0.37840	0.756000	0.42949	8.852000	0.92215	2.738000	0.93877	0.557000	0.71058	GGA		0.418	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2			41	255	0	0	0	1	0	41	255				
MIR197	406974	broad.mit.edu	37	1	110141551	110141551	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110141551G>T	ENST00000436416.1	+	0	1192				MIR197_ENST00000384976.2_RNA																							GGAGGTAAGAGCTCTTCACCC	0.552																																						ENST00000384976.2																			0																				111.0	104.0	106.0					1																	110141551		1568	3582	5150			0							g.chr1:110141551G>T																													1.37:g.110141551G>T								NR_029583.1						0	37	+									RNA	SNP	ENST00000436416.1	37																																																																																						0.552	RP5-1160K1.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000032199.1			81	339	1	0	8.87156e-34	1	1.0529e-33	81	339				
TRAPPC10	7109	broad.mit.edu	37	21	45522699	45522699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45522699C>A	ENST00000291574.4	+	22	3562	c.3387C>A	c.(3385-3387)agC>agA	p.S1129R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1129					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGGGAAAAGCTGCGGTGTCA	0.592																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3385-3387)agC>agA		trafficking protein particle complex 10							166.0	158.0	161.0					21																	45522699		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45522699C>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3387C>A	21.37:g.45522699C>A	ENSP00000291574:p.Ser1129Arg						p.S1129R	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			22	3562	+			1129					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3387C>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655720	0.67586	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.26660	1.72	5.49	-0.441	0.12257	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.34875	-0.9811	10	0.87932	D	0	.	12.5211	0.56060	0.0:0.6282:0.0:0.3718	.	388;1129	B4DI17;P48553	.;TPC10_HUMAN	R	1129;260	ENSP00000291574:S1129R	ENSP00000291574:S1129R	S	+	3	2	TRAPPC10	44347127	0.437000	0.25593	0.954000	0.39281	0.922000	0.55478	-0.330000	0.07925	-0.043000	0.13513	-0.345000	0.07892	AGC		0.592	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		160	682	1	0	3.66178e-69	1	4.64609e-69	160	682				
WDR24	84219	broad.mit.edu	37	16	737061	737061	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737061T>A	ENST00000248142.6	-	7	1404	c.1405A>T	c.(1405-1407)Aac>Tac	p.N469Y	JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.N339Y|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	469										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCCTCAGGGTTGGCGCGCTCG	0.706																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(1015-1017)Aac>Tac		WD repeat domain 24							13.0	17.0	15.0					16																	737061		2189	4288	6477	SO:0001583	missense	84219							g.chr16:737061T>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1405A>T	16.37:g.737061T>A	ENSP00000248142:p.Asn469Tyr					WDR24_ENST00000248142.6_Missense_Mutation_p.N469Y	p.N339Y	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	1774	-		Hepatocellular(780;0.0218)	469					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.1015A>T		.	.	.	.	.	.	.	.	.	.	T	19.02	3.745631	0.69418	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.79554	-1.28;0.15	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.89353	0.3662	10	0.72032	D	0.01	-23.566	13.5165	0.61543	0.0:0.0:0.0:1.0	.	339	Q96S15-2	.	Y	469;339	ENSP00000248142:N469Y;ENSP00000293883:N339Y	ENSP00000248142:N469Y	N	-	1	0	WDR24	677062	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.142000	0.77339	2.033000	0.60031	0.533000	0.62120	AAC		0.706	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		23	96	0	0	0	1	0	23	96				
RP11-337C18.8	0	broad.mit.edu	37	1	146649741	146649741	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146649741G>A	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							GCTGCTTCTCGCCGCGGCCCG	0.721																																						ENST00000607149.1																			0																																																			0							g.chr1:146649741G>A																													1.37:g.146649741G>A														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.721	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			58	138	0	0	0	1	0	58	138				
CNTN4	152330	broad.mit.edu	37	3	3067840	3067840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3067840G>A	ENST00000397461.1	+	14	1925	c.1541G>A	c.(1540-1542)aGt>aAt	p.S514N	CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N|CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	514	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGGAGAGAGTATTGTTTTA	0.428																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1540-1542)aGt>aAt		contactin 4							192.0	162.0	172.0					3																	3067840		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3067840G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1541G>A	3.37:g.3067840G>A	ENSP00000380602:p.Ser514Asn					CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N	p.S514N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	14	1925	+		Ovarian(110;0.156)	514			Ig-like C2-type 6.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1541G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819485	0.50633	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	4.99	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.64260	1.97	0.80722	D	1	P;D;D	0.76494	0.918;0.996;0.999	P;D;D	0.77557	0.835;0.977;0.99	T	0.03287	-1.1052	10	0.18276	T	0.48	.	18.2793	0.90092	0.0:0.0:1.0:0.0	.	514;514;514	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	N	514;514;514;295;186;186	ENSP00000396010:S514N;ENSP00000380602:S514N;ENSP00000413642:S514N;ENSP00000351267:S295N;ENSP00000380600:S186N;ENSP00000392077:S186N	ENSP00000351267:S295N	S	+	2	0	CNTN4	3042840	1.000000	0.71417	0.981000	0.43875	0.155000	0.21991	9.247000	0.95444	2.301000	0.77427	0.561000	0.74099	AGT		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			44	190	0	0	0	1	0	44	190				
NPR1	4881	broad.mit.edu	37	1	153657450	153657450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153657450C>A	ENST00000368680.3	+	8	1967	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	499					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAAGATGCAGCTGGAGAAGGA	0.662																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1495-1497)Ctg>Atg		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						79.0	76.0	77.0					1																	153657450		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153657450C>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1495C>A	1.37:g.153657450C>A	ENSP00000357669:p.Leu499Met						p.L499M	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1967	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		499					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1495C>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512980	0.64522	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.83914	-1.78	4.86	3.96	0.45880	.	0.000000	0.53938	D	0.000048	D	0.87637	0.6227	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	D	0.87090	0.2172	10	0.38643	T	0.18	.	10.9002	0.47047	0.0:0.9088:0.0:0.0912	.	4;499	B7Z4Y7;P16066	.;ANPRA_HUMAN	M	499;4	ENSP00000357669:L499M	ENSP00000357669:L499M	L	+	1	2	NPR1	151924074	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.911000	0.48774	1.282000	0.44496	-0.136000	0.14681	CTG		0.662	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		144	381	1	0	6.51915e-81	1	8.33962e-81	144	381				
DOPEY2	9980	broad.mit.edu	37	21	37617780	37617780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617780G>A	ENST00000399151.3	+	19	3587	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1168					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTCCAGTCAGAAAGCTTCAA	0.637																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3502-3504)Gaa>Aaa		dopey family member 2							36.0	40.0	38.0					21																	37617780		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617780G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3502G>A	21.37:g.37617780G>A	ENSP00000382104:p.Glu1168Lys						p.E1168K	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3587	+			1168					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3502G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	6.407	0.443183	0.12164	.	.	ENSG00000142197	ENST00000399151	T	0.32988	1.43	4.61	3.65	0.41850	.	0.412728	0.20393	N	0.093212	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	1	B;B	0.32753	0.383;0.265	B;B	0.26770	0.073;0.033	T	0.11916	-1.0568	10	0.10111	T	0.7	.	9.0698	0.36486	0.0813:0.1495:0.7692:0.0	.	1168;1168	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1168	ENSP00000382104:E1168K	ENSP00000382104:E1168K	E	+	1	0	DOPEY2	36539650	0.790000	0.28787	0.010000	0.14722	0.014000	0.08584	2.759000	0.47573	2.575000	0.86900	0.650000	0.86243	GAA		0.637	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		58	232	0	0	0	1	0	58	232				
ITIH5	80760	broad.mit.edu	37	10	7605113	7605113	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7605113T>G	ENST00000256861.6	-	14	2840	c.2762A>C	c.(2761-2763)gAt>gCt	p.D921A	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	921					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGCCAGGTAATCCTTGTACTC	0.512																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2761-2763)gAt>gCt		inter-alpha-trypsin inhibitor heavy chain family, member 5							191.0	162.0	172.0					10																	7605113		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605113T>G			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2762A>C	10.37:g.7605113T>G	ENSP00000256861:p.Asp921Ala					ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A	p.D921A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			14	2840	-			921					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2762A>C		.	.	.	.	.	.	.	.	.	.	T	16.31	3.088393	0.55968	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.03580	4.08;3.88;3.91	5.79	4.66	0.58398	.	0.198444	0.51477	D	0.000086	T	0.12689	0.0308	.	.	.	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.57324	0.662;0.818	T	0.00299	-1.1836	9	0.87932	D	0	-16.5541	11.7484	0.51835	0.0:0.0689:0.0:0.9311	.	921;707	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	A	921;707;703	ENSP00000256861:D921A;ENSP00000298441:D707A;ENSP00000387969:D703A	ENSP00000256861:D921A	D	-	2	0	ITIH5	7645119	1.000000	0.71417	0.053000	0.19242	0.140000	0.21249	5.835000	0.69368	1.023000	0.39654	0.528000	0.53228	GAT		0.512	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		141	699	0	0	0	1	0	141	699				
MAP3K10	4294	broad.mit.edu	37	19	40719444	40719444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40719444G>A	ENST00000253055.3	+	9	2146	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	620					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAGGCAGAGGATGGAGGCAG	0.721																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1858-1860)Gat>Aat		mitogen-activated protein kinase kinase kinase 10							17.0	18.0	18.0					19																	40719444		2202	4295	6497	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719444G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1858G>A	19.37:g.40719444G>A	ENSP00000253055:p.Asp620Asn						p.D620N	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			9	2146	+			620					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1858G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822251	0.32237	.	.	ENSG00000130758	ENST00000253055	T	0.75367	-0.93	4.49	4.49	0.54785	.	0.953020	0.08742	N	0.900357	T	0.69351	0.3101	L	0.36672	1.1	0.35487	D	0.798683	B	0.19817	0.039	B	0.21917	0.037	T	0.65796	-0.6081	10	0.49607	T	0.09	.	14.6516	0.68800	0.0:0.0:1.0:0.0	.	620	Q02779	M3K10_HUMAN	N	620	ENSP00000253055:D620N	ENSP00000253055:D620N	D	+	1	0	MAP3K10	45411284	0.663000	0.27448	0.671000	0.29857	0.238000	0.25445	1.213000	0.32407	2.040000	0.60383	0.313000	0.20887	GAT		0.721	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		34	116	0	0	0	1	0	34	116				
CDK13	8621	broad.mit.edu	37	7	39991439	39991439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:39991439G>T	ENST00000181839.4	+	1	1804	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	CDK13_ENST00000340829.5_Missense_Mutation_p.S400I|RP11-467D6.1_ENST00000569710.1_RNA	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	400					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGTCCCTACAGCCCTGTGCTC	0.662																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1198-1200)aGc>aTc		cyclin-dependent kinase 13							44.0	32.0	36.0					7																	39991439		1996	3992	5988	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:39991439G>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1199G>T	7.37:g.39991439G>T	ENSP00000181839:p.Ser400Ile					CDK13_ENST00000340829.5_Missense_Mutation_p.S400I	p.S400I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			1	1804	+			400					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1199G>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179393	0.38511	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.69435	-0.4;-0.4	4.8	4.8	0.61643	.	.	.	.	.	T	0.66954	0.2842	L	0.36672	1.1	0.54753	D	0.999985	P;P	0.47677	0.899;0.838	P;P	0.51355	0.667;0.466	T	0.65134	-0.6242	8	.	.	.	-1.6856	16.4026	0.83647	0.0:0.0:1.0:0.0	.	400;400	Q14004-2;Q14004	.;CDK13_HUMAN	I	400	ENSP00000181839:S400I;ENSP00000340557:S400I	.	S	+	2	0	CDK13	39957964	1.000000	0.71417	0.996000	0.52242	0.238000	0.25445	7.157000	0.77461	2.343000	0.79666	0.563000	0.77884	AGC		0.662	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		46	272	1	0	5.82388e-19	1	6.47979e-19	46	272				
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39383090G>A	ENST00000320816.6	-	10	1438	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468																																						ENST00000320816.6																			1	Substitution - Nonsense(1)	p.S324*(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(970-972)tCg>tTg		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							102.0	106.0	105.0					5																	39383090		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39383090G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.971C>T	5.37:g.39383090G>A	ENSP00000313391:p.Ser324Leu					DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L	p.S324L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1438	-	all_lung(31;0.000197)		324					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.971C>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	6.467	0.454341	0.12283	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.34275	1.41;1.37;1.37	5.73	-0.829	0.10796	.	0.998658	0.08105	N	0.997037	T	0.12092	0.0294	N	0.00677	-1.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.26408	T	0.33	-0.1136	11.3431	0.49543	0.6031:0.0:0.3969:0.0	.	324;303	P98082;P98082-3	DAB2_HUMAN;.	L	324;303;303	ENSP00000313391:S324L;ENSP00000439919:S303L;ENSP00000426245:S303L	ENSP00000313391:S324L	S	-	2	0	DAB2	39418847	0.972000	0.33761	0.997000	0.53966	0.662000	0.39071	0.570000	0.23653	-0.060000	0.13132	-1.004000	0.02495	TCG		0.468	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		23	521	0	0	0	1	0	23	521				
CYP4Z1	199974	broad.mit.edu	37	1	47533229	47533229	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47533229T>G	ENST00000334194.3	+	1	70	c.67T>G	c.(67-69)Tct>Gct	p.S23A		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	23						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTCTGCATGTCTCTGCTGCT	0.557																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(67-69)Tct>Gct		cytochrome P450, family 4, subfamily Z, polypeptide 1							74.0	67.0	70.0					1																	47533229		2203	4298	6501	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533229T>G	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.67T>G	1.37:g.47533229T>G	ENSP00000334246:p.Ser23Ala						p.S23A	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			1	70	+			23					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.67T>G	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.297443	0.01364	.	.	ENSG00000186160	ENST00000334194	T	0.68903	-0.36	3.29	-0.545	0.11843	.	0.321368	0.22204	U	0.063190	T	0.33469	0.0864	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25222	-1.0138	10	0.19147	T	0.46	.	8.8238	0.35043	0.0:0.0:0.3568:0.6432	.	23	Q86W10	CP4Z1_HUMAN	A	23	ENSP00000334246:S23A	ENSP00000334246:S23A	S	+	1	0	CYP4Z1	47305816	0.000000	0.05858	0.112000	0.21494	0.073000	0.16967	-0.537000	0.06128	0.036000	0.15547	0.378000	0.23410	TCT		0.557	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		24	208	0	0	0	1	0	24	208				
CPSF1	29894	broad.mit.edu	37	8	145625850	145625850	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145625850C>A	ENST00000349769.3	-	8	818	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	242					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTGAGATGGCCACAATGGAG	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(724-726)Gcc>Tcc		cleavage and polyadenylation specific factor 1, 160kDa							103.0	100.0	101.0					8																	145625850		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145625850C>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.724G>T	8.37:g.145625850C>A	ENSP00000339353:p.Ala242Ser						p.A242S	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		8	818	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		242					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.724G>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167240	0.94768	.	.	ENSG00000071894	ENST00000349769	T	0.24350	1.86	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.991;0.994;0.988	T	0.61618	-0.7026	10	0.66056	D	0.02	-15.0396	17.2687	0.87095	0.0:1.0:0.0:0.0	.	242;164;242	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	S	242	ENSP00000339353:A242S	ENSP00000339353:A242S	A	-	1	0	CPSF1	145596658	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.771000	0.55318	2.686000	0.91538	0.650000	0.86243	GCC		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		79	443	1	0	3.24273e-39	1	3.91873e-39	79	443				
LRP4	4038	broad.mit.edu	37	11	46917842	46917842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46917842G>A	ENST00000378623.1	-	9	1209	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	323	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCAATGCAGCGCCCATTCCAA	0.577																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(967-969)Cgc>Tgc		low density lipoprotein receptor-related protein 4							94.0	88.0	90.0					11																	46917842		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917842G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.967C>T	11.37:g.46917842G>A	ENSP00000367888:p.Arg323Cys						p.R323C	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	9	1209	-			323			LDL-receptor class A 8.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.967C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292347	0.95546	.	.	ENSG00000134569	ENST00000378623	T	0.42513	0.97	5.96	5.96	0.96718	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.60642	-0.7223	10	0.59425	D	0.04	.	20.4123	0.99019	0.0:0.0:1.0:0.0	.	323	O75096	LRP4_HUMAN	C	323	ENSP00000367888:R323C	ENSP00000367888:R323C	R	-	1	0	LRP4	46874418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.824000	0.97209	0.655000	0.94253	CGC		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	486	0	0	0	1	0	8	486				
KCNH1	3756	broad.mit.edu	37	1	210857251	210857251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210857251C>T	ENST00000271751.4	-	11	2369	c.2342G>A	c.(2341-2343)aGc>aAc	p.S781N	KCNH1_ENST00000367007.4_Missense_Mutation_p.S754N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	781					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTCACGAGGCTGTGGTTGGC	0.632																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2260-2262)aGc>aAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							58.0	52.0	54.0					1																	210857251		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210857251C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2342G>A	1.37:g.210857251C>T	ENSP00000271751:p.Ser781Asn					KCNH1_ENST00000271751.4_Missense_Mutation_p.S781N	p.S754N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2430	-			781			Calmodulin-binding.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2261G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	8.408	0.843422	0.16963	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98996	-5.28;-5.31	4.64	2.65	0.31530	.	0.968284	0.08580	N	0.924690	D	0.95661	0.8589	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.91852	0.5492	10	0.35671	T	0.21	.	5.6062	0.17381	0.0:0.4757:0.3043:0.2201	.	754;781	Q14CL3;O95259	.;KCNH1_HUMAN	N	781;754	ENSP00000271751:S781N;ENSP00000355974:S754N	ENSP00000271751:S781N	S	-	2	0	KCNH1	208923874	0.000000	0.05858	0.119000	0.21687	0.781000	0.44180	0.876000	0.28092	0.933000	0.37291	0.462000	0.41574	AGC		0.632	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		111	272	0	0	0	1	0	111	272				
CCDC112	153733	broad.mit.edu	37	5	114611181	114611181	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114611181C>T	ENST00000512261.1	-	7	817	c.401G>A	c.(400-402)aGc>aAc	p.S134N	CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N|CCDC112_ENST00000379611.5_Missense_Mutation_p.S217N|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	134										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		AGGAACTTTGCTTGAGATTGC	0.408																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(649-651)aGc>aAc		coiled-coil domain containing 112							138.0	139.0	139.0					5																	114611181		2202	4300	6502	SO:0001583	missense	153733							g.chr5:114611181C>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.401G>A	5.37:g.114611181C>T	ENSP00000423712:p.Ser134Asn					CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000512261.1_Missense_Mutation_p.S134N|CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N|CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N	p.S217N	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	937	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	134					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.650G>A	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831347	0.50845	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.24538	1.85;2.19;2.19;2.19	5.95	5.95	0.96441	.	0.516231	0.25114	N	0.033025	T	0.27559	0.0677	L	0.43152	1.355	0.29259	N	0.871457	P;P;P	0.38504	0.634;0.634;0.493	B;B;B	0.41894	0.369;0.369;0.206	T	0.10683	-1.0619	10	0.22109	T	0.4	-3.5344	15.6166	0.76773	0.0:0.8531:0.1469:0.0	.	134;217;134	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	N	217;134;134;134	ENSP00000368931:S217N;ENSP00000423712:S134N;ENSP00000424876:S134N;ENSP00000378925:S134N	ENSP00000368931:S217N	S	-	2	0	CCDC112	114639080	0.664000	0.27457	0.851000	0.33527	0.995000	0.86356	1.112000	0.31172	2.810000	0.96702	0.650000	0.86243	AGC		0.408	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		124	530	0	0	0	1	0	124	530				
HIST1H2BG	8339	broad.mit.edu	37	6	26216523	26216523	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216523T>C	ENST00000244601.3	-	1	349	c.349A>G	c.(349-351)Aag>Gag	p.K117E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	117					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GTGACAGCCTTGGTACCTTCG	0.517																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(349-351)Aag>Gag		histone cluster 1, H2bg							99.0	99.0	99.0					6																	26216523		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216523T>C	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.349A>G	6.37:g.26216523T>C	ENSP00000244601:p.Lys117Glu						p.K117E	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	349	-		all_hematologic(11;0.196)	117					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.349A>G	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.149696	0.37923	.	.	ENSG00000187990	ENST00000244601	T	0.46063	0.88	3.89	3.89	0.44902	.	0.000000	0.34531	U	0.003887	T	0.41143	0.1146	.	.	.	0.34553	D	0.71154	.	.	.	.	.	.	T	0.47209	-0.9135	7	0.59425	D	0.04	.	12.3158	0.54955	0.0:0.0:0.0:1.0	.	.	.	.	E	117	ENSP00000244601:K117E	ENSP00000244601:K117E	K	-	1	0	HIST1H2BG	26324502	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.711000	0.84669	1.762000	0.52044	0.459000	0.35465	AAG		0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		127	558	0	0	0	1	0	127	558				
WDR26	80232	broad.mit.edu	37	1	224599257	224599257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224599257G>A	ENST00000414423.2	-	7	1223	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.P197S	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	344						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTATAACATGGGAACTGCCTC	0.333																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(1030-1032)Cca>Tca		WD repeat domain 26							114.0	106.0	108.0					1																	224599257		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224599257G>A	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1030C>T	1.37:g.224599257G>A	ENSP00000408108:p.Pro344Ser					WDR26_ENST00000295024.6_Missense_Mutation_p.P197S|WDR26_ENST00000366852.2_3'UTR	p.P344S	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	7	1223	-			344					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.1030C>T	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012648	0.93346	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	D;D	0.81499	-1.5;-1.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88197	0.2881	10	0.54805	T	0.06	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	328	Q9H7D7-2	.	S	344;197	ENSP00000408108:P344S;ENSP00000295024:P197S	ENSP00000295024:P197S	P	-	1	0	WDR26	222665880	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.695000	0.91970	0.563000	0.77884	CCA		0.333	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		33	277	0	0	0	1	0	33	277				
PSG5	5673	broad.mit.edu	37	19	43689108	43689108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43689108C>T	ENST00000366175.3	-	2	386	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG5_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000404580.1_Missense_Mutation_p.G86S|PSG5_ENST00000407356.1_Missense_Mutation_p.G86S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	86	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTATTTGACCGTCTACTACA	0.438																																						ENST00000404580.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(256-258)Ggt>Agt		pregnancy specific beta-1-glycoprotein 5							264.0	253.0	257.0					19																	43689108		2203	4295	6498	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43689108C>T		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.256G>A	19.37:g.43689108C>T	ENSP00000382334:p.Gly86Ser					PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000366175.3_Missense_Mutation_p.G86S|PSG5_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000407356.1_Missense_Mutation_p.G86S	p.G86S			Q15238	PSG5_HUMAN			2	344	-		Prostate(69;0.00899)	86			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.256G>A	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	0.169	-1.073275	0.01918	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	1.56	-3.12	0.05282	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33294	0.0858	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.001;0.003	B;B;B;B	0.12156	0.007;0.007;0.002;0.004	T	0.20273	-1.0280	9	0.10377	T	0.69	.	4.6263	0.12479	0.0:0.511:0.218:0.2709	.	86;86;86;86	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	S	86	ENSP00000382334:G86S;ENSP00000386008:G86S;ENSP00000386053:G86S;ENSP00000344413:G86S;ENSP00000385250:G86S	ENSP00000344413:G86S	G	-	1	0	PSG5	48380948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.628000	0.02031	-1.539000	0.01732	-0.771000	0.03389	GGT		0.438	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		335	1395	0	0	0	1	0	335	1395				
CTNNA2	1496	broad.mit.edu	37	2	80085159	80085159	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80085159T>G	ENST00000402739.4	+	3	324	c.319T>G	c.(319-321)Tcc>Gcc	p.S107A	CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	107					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCGGATCGCCTCCTCCGAGTT	0.572																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(319-321)Tcc>Gcc		catenin (cadherin-associated protein), alpha 2							96.0	94.0	95.0					2																	80085159		2051	4191	6242	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085159T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.319T>G	2.37:g.80085159T>G	ENSP00000384638:p.Ser107Ala					CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S107A	p.S107A			P26232	CTNA2_HUMAN			8	1043	+			107					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.319T>G		.	.	.	.	.	.	.	.	.	.	T	8.425	0.847206	0.17034	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.67	5.67	0.87782	.	0.065157	0.64402	N	0.000005	T	0.21022	0.0506	N	0.16166	0.38	0.51767	D	0.999934	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.15484	0.013;0.005;0.008	T	0.08617	-1.0713	10	0.02654	T	1	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	107;107;107	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	A	107;107;107;141;107;107;107	ENSP00000418191:S107A;ENSP00000419295:S107A;ENSP00000387073:S107A;ENSP00000355398:S141A;ENSP00000384638:S107A;ENSP00000444675:S107A;ENSP00000441705:S107A	ENSP00000355398:S141A	S	+	1	0	CTNNA2	79938667	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.186000	0.72026	2.164000	0.68074	0.533000	0.62120	TCC		0.572	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		85	502	0	0	0	1	0	85	502				
SDAD1	55153	broad.mit.edu	37	4	76895229	76895229	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76895229C>T	ENST00000356260.5	-	7	754	c.636G>A	c.(634-636)aaG>aaA	p.K212K	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Splice_Site_p.K175K	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	212					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTGCTCACCTTGGTGACCT	0.428																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.e7+1		SDA1 domain containing 1							190.0	157.0	168.0					4																	76895229		2203	4300	6503	SO:0001630	splice_region_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76895229C>T	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.636+1G>A	4.37:g.76895229C>T						SDAD1_ENST00000395711.4_Splice_Site_p.K175_splice	p.K212_splice	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		7	754	-			212					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Splice_Site	SNP	ENST00000356260.5	37	c.636_splice	CCDS3573.2																																																																																				0.428	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115	Silent	76	377	0	0	0	1	0	76	377				
PLD2	5338	broad.mit.edu	37	17	4720350	4720350	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4720350G>A	ENST00000263088.6	+	16	1832	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	PLD2_ENST00000572940.1_Splice_Site_p.K567K	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	567	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACTTCACCAAGGTGTTCATTC	0.647																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.e16+1		phospholipase D2	Choline(DB00122)						91.0	84.0	87.0					17																	4720350		2203	4300	6503	SO:0001630	splice_region_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4720350G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1701+1G>A	17.37:g.4720350G>A						PLD2_ENST00000572940.1_Splice_Site_p.K567_splice	p.K567_splice	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			16	1832	+			567			Catalytic.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Splice_Site	SNP	ENST00000263088.6	37	c.1701_splice	CCDS11057.1																																																																																				0.647	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	Silent	130	507	0	0	0	1	0	130	507				
HSD3B1	3283	broad.mit.edu	37	1	120057147	120057147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120057147C>T	ENST00000369413.3	+	4	1146	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	HSD3B1_ENST00000235547.6_Missense_Mutation_p.A336V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	334					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TATAAGAAGGCTCAGCGAGAT	0.517																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(1006-1008)gCt>gTt		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						102.0	91.0	95.0					1																	120057147		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057147C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1001C>T	1.37:g.120057147C>T	ENSP00000358421:p.Ala334Val					HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V|HSD3B1_ENST00000369413.3_Missense_Mutation_p.A334V	p.A336V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1146	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	334					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.1007C>T	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277993	0.59758	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.90955	-2.76;-2.76;-2.76	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.978;0.999	D	0.96505	0.9374	10	0.87932	D	0	-7.6718	12.346	0.55122	0.0:1.0:0.0:0.0	.	336;334	Q5TDG2;P14060	.;3BHS1_HUMAN	V	334;336;334	ENSP00000358421:A334V;ENSP00000235547:A336V;ENSP00000432268:A334V	ENSP00000235547:A336V	A	+	2	0	HSD3B1	119858670	1.000000	0.71417	0.994000	0.49952	0.327000	0.28475	7.157000	0.77461	1.799000	0.52666	0.313000	0.20887	GCT		0.517	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		49	370	0	0	0	1	0	49	370				
PKDREJ	10343	broad.mit.edu	37	22	46655993	46655993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655993G>A	ENST00000253255.5	-	1	3226	c.3227C>T	c.(3226-3228)aCt>aTt	p.T1076I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1076					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TATGGATACAGTACAGTGGGG	0.512																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3226-3228)aCt>aTt		polycystin (PKD) family receptor for egg jelly							48.0	42.0	44.0					22																	46655993		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655993G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3227C>T	22.37:g.46655993G>A	ENSP00000253255:p.Thr1076Ile						p.T1076I	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3226	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1076					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3227C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718557	0.30503	.	.	ENSG00000130943	ENST00000253255	T	0.36878	1.23	4.93	-4.29	0.03721	.	2.079570	0.01985	N	0.045099	T	0.27419	0.0673	L	0.40543	1.245	0.09310	N	1	B	0.26002	0.139	B	0.21546	0.035	T	0.33317	-0.9873	10	0.54805	T	0.06	-0.9435	5.2917	0.15731	0.2422:0.0:0.3316:0.4262	.	1076	Q9NTG1	PKDRE_HUMAN	I	1076	ENSP00000253255:T1076I	ENSP00000253255:T1076I	T	-	2	0	PKDREJ	45034657	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.064000	0.11636	-0.302000	0.08869	0.455000	0.32223	ACT		0.512	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		30	147	0	0	0	1	0	30	147				
GP9	2815	broad.mit.edu	37	3	128780912	128780912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780912G>T	ENST00000307395.4	+	3	552	c.330G>T	c.(328-330)caG>caT	p.Q110H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	110	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CCCTGCTGCAGGTCCGCTGTG	0.701																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(328-330)caG>caT		glycoprotein IX (platelet)	Quinine(DB00468)						15.0	15.0	15.0					3																	128780912		2196	4285	6481	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780912G>T		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.330G>T	3.37:g.128780912G>T	ENSP00000303942:p.Gln110His						p.Q110H	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	552	+			110			LRRCT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.330G>T	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233487	0.22626	.	.	ENSG00000169704	ENST00000307395	D	0.90133	-2.62	4.17	-7.05	0.01573	Cysteine-rich flanking region, C-terminal (1);	2.023410	0.02760	N	0.118489	T	0.82116	0.4967	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68557	-0.5377	10	0.30078	T	0.28	0.4949	8.6414	0.33978	0.0:0.1345:0.4621:0.4033	.	110	P14770	GPIX_HUMAN	H	110	ENSP00000303942:Q110H	ENSP00000303942:Q110H	Q	+	3	2	GP9	130263602	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.946000	0.00328	-1.210000	0.02627	0.462000	0.41574	CAG		0.701	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			20	171	1	0	1.00905e-13	1	1.09121e-13	20	171				
SNTG2	54221	broad.mit.edu	37	2	1243543	1243543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1243543G>A	ENST00000308624.5	+	11	1012	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	295					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTCTCCTTCCGACCAGGTAGG	0.473																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(883-885)Gac>Aac		syntrophin, gamma 2							170.0	161.0	164.0					2																	1243543		2076	4217	6293	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1243543G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.883G>A	2.37:g.1243543G>A	ENSP00000311837:p.Asp295Asn					SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	p.D295N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	11	1012	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	295					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.883G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988159	0.35036	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69040	1.6;-0.37	4.77	4.77	0.60923	.	0.106304	0.64402	D	0.000007	T	0.66117	0.2757	M	0.70595	2.14	0.58432	D	0.999992	B;B	0.28667	0.219;0.14	B;B	0.23716	0.048;0.009	T	0.67047	-0.5769	10	0.42905	T	0.14	.	16.9182	0.86157	0.0:0.0:1.0:0.0	.	168;295	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	295;168	ENSP00000311837:D295N;ENSP00000385020:D168N	ENSP00000311837:D295N	D	+	1	0	SNTG2	1226094	1.000000	0.71417	0.964000	0.40570	0.041000	0.13682	3.705000	0.54823	2.338000	0.79540	0.655000	0.94253	GAC		0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		18	93	0	0	0	1	0	18	93				
AGR2	10551	broad.mit.edu	37	7	16834575	16834575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16834575C>T	ENST00000419304.2	-	7	615	c.463G>A	c.(463-465)Gca>Aca	p.A155T	AGR2_ENST00000401412.1_Missense_Mutation_p.A155T|AGR2_ENST00000419572.2_Missense_Mutation_p.A175T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	155					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCTGTATCTGCAGGTTCGTAA	0.448																																						ENST00000419304.2																			0				endometrium(2)|lung(1)|prostate(1)|skin(2)	6						c.(463-465)Gca>Aca		anterior gradient 2							151.0	120.0	131.0					7																	16834575		2203	4300	6503	SO:0001583	missense	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16834575C>T	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"""Protein disulfide isomerases"""	328	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 17"""	606358	"""anterior gradient 2 homolog (Xenopus laevis)"""			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.463G>A	7.37:g.16834575C>T	ENSP00000391490:p.Ala155Thr					AGR2_ENST00000419572.2_Missense_Mutation_p.A175T|AGR2_ENST00000401412.1_Missense_Mutation_p.A155T	p.A155T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	7	615	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		155						Missense_Mutation	SNP	ENST00000419304.2	37	c.463G>A	CCDS5364.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514783	0.27123	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412	.	.	.	5.65	0.0928	0.14474	.	0.354493	0.28104	N	0.016599	T	0.27384	0.0672	L	0.46157	1.445	0.28199	N	0.927427	B	0.02656	0.0	B	0.01281	0.0	T	0.09729	-1.0661	9	0.35671	T	0.21	-13.2225	2.4542	0.04525	0.4416:0.2555:0.0657:0.2372	.	155	O95994	AGR2_HUMAN	T	155;85;175;155	.	ENSP00000386025:A155T	A	-	1	0	AGR2	16801100	0.444000	0.25649	0.856000	0.33681	0.597000	0.36814	0.228000	0.17814	0.082000	0.17018	-2.055000	0.00403	GCA		0.448	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	NM_006408		39	212	0	0	0	1	0	39	212				
CD22	933	broad.mit.edu	37	19	35837493	35837493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35837493G>T	ENST00000085219.5	+	14	2503	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	CD22_ENST00000594250.1_Missense_Mutation_p.D636Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	813					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTCATTCCAGATTTTCCAGA	0.542																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2437-2439)Gat>Tat		CD22 molecule	OspA lipoprotein(DB00045)						52.0	40.0	44.0					19																	35837493		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837493G>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2437G>T	19.37:g.35837493G>T	ENSP00000085219:p.Asp813Tyr					CD22_ENST00000594250.1_Missense_Mutation_p.D636Y|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y	p.D813Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		14	2503	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		813					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2437G>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791871	0.50102	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.58358	0.79;0.4;0.34;0.66;0.87	4.58	-5.01	0.02991	.	1.852020	0.02603	N	0.101271	T	0.54679	0.1873	L	0.29908	0.895	0.09310	N	1	D;P;D;D	0.71674	0.981;0.558;0.991;0.998	P;B;P;D	0.64776	0.592;0.12;0.687;0.929	T	0.56019	-0.8048	10	0.59425	D	0.04	.	6.3034	0.21125	0.5514:0.1399:0.3087:0.0	.	641;725;813;636	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Y	813;725;636;628;641	ENSP00000085219:D813Y;ENSP00000442279:D725Y;ENSP00000339349:D636Y;ENSP00000270311:D628Y;ENSP00000403822:D641Y	ENSP00000085219:D813Y	D	+	1	0	CD22	40529333	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.350000	0.20079	-0.575000	0.05982	-0.384000	0.06662	GAT		0.542	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		11	54	1	0	2.80697e-09	1	2.95087e-09	11	54				
ITGB4	3691	broad.mit.edu	37	17	73723936	73723936	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73723936G>A	ENST00000200181.3	+	5	656	c.469G>A	c.(469-471)Gct>Act	p.A157T	ITGB4_ENST00000450894.3_Splice_Site_p.A157T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Splice_Site_p.A157T|ITGB4_ENST00000579662.1_Splice_Site_p.A157T|ITGB4_ENST00000339591.3_Splice_Site_p.A157T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	157	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGAACCTGGGTACGGCAGG	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.e5+1		integrin, beta 4							50.0	49.0	49.0					17																	73723936		2203	4300	6503	SO:0001630	splice_region_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73723936G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.469+1G>A	17.37:g.73723936G>A						ITGB4_ENST00000339591.3_Splice_Site_p.A157_splice|ITGB4_ENST00000579662.1_Splice_Site_p.A157_splice|ITGB4_ENST00000450894.3_Splice_Site_p.A157_splice|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Splice_Site_p.A157_splice	p.A157_splice	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	656	+	all_cancers(13;1.5e-07)		157			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Splice_Site	SNP	ENST00000200181.3	37	c.469_splice	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799179	0.50208	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97850	-4.57;-4.57;-4.57	5.31	5.31	0.75309	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.77313	2.365	0.80722	D	1	P;P;D;D	0.71674	0.928;0.875;0.998;0.998	P;P;D;D	0.72338	0.672;0.581;0.977;0.977	D	0.99840	1.1061	10	0.87932	D	0	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	157;157;157;157	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	T	73;157;157;157	ENSP00000200181:A157T;ENSP00000344079:A157T;ENSP00000400217:A157T	ENSP00000200181:A157T	A	+	1	0	ITGB4	71235531	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	9.467000	0.97671	2.500000	0.84329	0.591000	0.81541	GCT		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		Missense_Mutation	29	135	0	0	0	1	0	29	135				
ERC1	23085	broad.mit.edu	37	12	1137623	1137623	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1137623G>T	ENST00000397203.2	+	2	960	c.554G>T	c.(553-555)aGc>aTc	p.S185I	ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	185					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TCAATGAATAGCATCAAGACC	0.428																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(553-555)aGc>aTc		ELKS/RAB6-interacting/CAST family member 1							90.0	84.0	86.0					12																	1137623		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137623G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.554G>T	12.37:g.1137623G>T	ENSP00000380386:p.Ser185Ile					ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I	p.S185I			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	960	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		185					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.554G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.020112	0.54576	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.66	5.66	0.87406	.	0.091385	0.85682	D	0.000000	T	0.70518	0.3233	M	0.74647	2.275	0.49299	D	0.999773	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.952;0.965;0.99	T	0.70781	-0.4779	10	0.52906	T	0.07	-12.3985	19.7395	0.96220	0.0:0.0:1.0:0.0	.	185;185;185	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	I	185	ENSP00000340054:S185I;ENSP00000380386:S185I;ENSP00000438546:S185I;ENSP00000445336:S185I;ENSP00000442976:S185I;ENSP00000442739:S185I;ENSP00000347621:S185I;ENSP00000354158:S185I;ENSP00000410064:S185I	ENSP00000299183:S185I	S	+	2	0	ERC1	1007884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.147000	0.71783	2.669000	0.90835	0.655000	0.94253	AGC		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		50	257	1	0	1.4374e-25	1	1.6504e-25	50	257				
NDC1	55706	broad.mit.edu	37	1	54291547	54291547	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54291547C>A	ENST00000371429.3	-	5	1116	c.518G>T	c.(517-519)gGa>gTa	p.G173V	NDC1_ENST00000480952.1_5'UTR|AL049745.1_ENST00000578163.1_RNA|NDC1_ENST00000540001.1_Missense_Mutation_p.G173V|NDC1_ENST00000234725.8_Missense_Mutation_p.G58V|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	173					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										CATAAATGCTCCAGTCAGTAG	0.368																																						ENST00000371429.3																			0											c.(517-519)gGa>gTa		NDC1 transmembrane nucleoporin							96.0	96.0	96.0					1																	54291547		2203	4300	6503	SO:0001583	missense	55706							g.chr1:54291547C>A	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.518G>T	1.37:g.54291547C>A	ENSP00000360483:p.Gly173Val					NDC1_ENST00000234725.8_Missense_Mutation_p.G58V|NDC1_ENST00000540001.1_Missense_Mutation_p.G173V|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR	p.G173V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					5	1116	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.518G>T	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611358	0.87258	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.50001	0.76;0.76;0.76	5.26	5.26	0.73747	.	0.101474	0.64402	D	0.000002	T	0.66567	0.2802	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.59653	-0.7414	10	0.17369	T	0.5	.	19.2925	0.94108	0.0:1.0:0.0:0.0	.	133;173	B4DHA3;Q9BTX1	.;NDC1_HUMAN	V	173;173;173;58	ENSP00000360483:G173V;ENSP00000440873:G173V;ENSP00000234725:G58V	ENSP00000234725:G58V	G	-	2	0	TMEM48	54064135	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.552000	0.73914	2.631000	0.89168	0.460000	0.39030	GGA		0.368	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		80	296	1	0	7.2426e-40	1	8.76758e-40	80	296				
S1PR4	8698	broad.mit.edu	37	19	3178948	3178948	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3178948C>T	ENST00000246115.3	+	1	213	c.158C>T	c.(157-159)tCg>tTg	p.S53L	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	53					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGGGGGCTGTCGGTGGCCGCC	0.711																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(157-159)tCg>tTg		sphingosine-1-phosphate receptor 4							3.0	3.0	3.0					19																	3178948		1815	3689	5504	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3178948C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.158C>T	19.37:g.3178948C>T	ENSP00000246115:p.Ser53Leu					S1PR4_ENST00000591346.1_Intron	p.S53L	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	213	+			53					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.158C>T	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252049	0.39797	.	.	ENSG00000125910	ENST00000246115	T	0.32988	1.43	3.73	2.68	0.31781	.	0.294789	0.32068	N	0.006622	T	0.15089	0.0364	N	0.14661	0.345	0.29794	N	0.832973	B	0.15141	0.012	B	0.04013	0.001	T	0.08371	-1.0725	10	0.46703	T	0.11	.	4.6557	0.12617	0.0:0.2117:0.0:0.7883	.	53	O95977	S1PR4_HUMAN	L	53	ENSP00000246115:S53L	ENSP00000246115:S53L	S	+	2	0	S1PR4	3129948	0.991000	0.36638	0.039000	0.18376	0.953000	0.61014	1.912000	0.39946	0.505000	0.28104	0.462000	0.41574	TCG		0.711	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		8	31	0	0	0	1	0	8	31				
MED12L	116931	broad.mit.edu	37	3	151129262	151129262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151129262C>T	ENST00000474524.1	+	39	6040	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2001	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCAGGCCTCGCCGTACCTG	0.517																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6001-6003)tCg>tTg		mediator complex subunit 12-like							71.0	72.0	72.0					3																	151129262		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129262C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6002C>T	3.37:g.151129262C>T	ENSP00000417235:p.Ser2001Leu					MED12L_ENST00000273432.4_Intron	p.S2001L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	6040	+			2001			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.6002C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084020	0.55861	.	.	ENSG00000144893	ENST00000474524	T	0.57907	0.37	5.75	5.75	0.90469	Mediator complex, subunit Med12, catenin-binding (1);	0.198038	0.45361	D	0.000371	T	0.45337	0.1337	L	0.29908	0.895	0.80722	D	1	B	0.23591	0.088	B	0.23275	0.045	T	0.36817	-0.9732	10	0.62326	D	0.03	-4.2631	17.7294	0.88373	0.0:1.0:0.0:0.0	.	2001	Q86YW9	MD12L_HUMAN	L	2001	ENSP00000417235:S2001L	ENSP00000417235:S2001L	S	+	2	0	MED12L	152611952	0.197000	0.23362	0.555000	0.28281	0.539000	0.34962	5.434000	0.66526	2.708000	0.92522	0.650000	0.86243	TCG		0.517	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		66	409	0	0	0	1	0	66	409				
RFX5	5993	broad.mit.edu	37	1	151316355	151316355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151316355C>A	ENST00000290524.4	-	9	737	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	187					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(559-561)Gaa>Taa		regulatory factor X, 5 (influences HLA class II expression)							57.0	54.0	55.0					1																	151316355		2203	4300	6503	SO:0001587	stop_gained	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316355C>A		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.559G>T	1.37:g.151316355C>A	ENSP00000290524:p.Glu187*					RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*	p.E187*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	737	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		187					B7Z848|D3DV19|E9PFU4|Q5VWC3	Nonsense_Mutation	SNP	ENST00000290524.4	37	c.559G>T	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406966	0.97542	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	.	.	.	5.81	4.89	0.63831	.	0.258141	0.36972	N	0.002303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.5308	15.0322	0.71717	0.1434:0.8566:0.0:0.0	.	.	.	.	X	187;187;79;187;147;187;187	.	ENSP00000290524:E187X	E	-	1	0	RFX5	149582979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.499000	0.73683	1.446000	0.47643	0.655000	0.94253	GAA		0.532	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		77	233	1	0	5.32961e-40	1	6.45334e-40	77	233				
POU5F2	134187	broad.mit.edu	37	5	93076496	93076496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:93076496G>A	ENST00000510627.4	-	1	847	c.774C>T	c.(772-774)ttC>ttT	p.F258F	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	258					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGCGGTTATAGAACCAAACTC	0.577																																						ENST00000510627.4																			0											c.(772-774)ttC>ttT		POU domain class 5, transcription factor 2							52.0	53.0	52.0					5																	93076496		2012	4177	6189	SO:0001819	synonymous_variant	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076496G>A		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.774C>T	5.37:g.93076496G>A						FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron	p.F258F	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	847	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	258					Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	37	c.774C>T	CCDS59489.1																																																																																				0.577	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		19	85	0	0	0	1	0	19	85				
ZNF800	168850	broad.mit.edu	37	7	127013819	127013819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127013819C>T	ENST00000393313.1	-	5	2162	c.1571G>A	c.(1570-1572)tGc>tAc	p.C524Y	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y|ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTCATAAGTGCAAAGAGGACA	0.363																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1570-1572)tGc>tAc		zinc finger protein 800							73.0	67.0	69.0					7																	127013819		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013819C>T	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1571G>A	7.37:g.127013819C>T	ENSP00000376989:p.Cys524Tyr					ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y|ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y	p.C524Y			Q2TB10	ZN800_HUMAN			5	2162	-			524					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1571G>A	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096688	0.56075	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.99176	-5.52;-5.52;-5.52	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	L	0.32530	0.975	0.40964	D	0.984644	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99066	1.0832	8	.	.	.	-12.6818	19.6475	0.95784	0.0:1.0:0.0:0.0	.	427;524	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	524	ENSP00000376989:C524Y;ENSP00000265827:C524Y;ENSP00000376988:C524Y	.	C	-	2	0	ZNF800	126801055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	TGC		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		74	354	0	0	0	1	0	74	354				
ALS2	57679	broad.mit.edu	37	2	202622146	202622146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202622146G>T	ENST00000264276.6	-	5	1822	c.1450C>A	c.(1450-1452)Ctc>Atc	p.L484I		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	484					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATCCAGGGAGGGAGAGTCTT	0.418																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(1450-1452)Ctc>Atc		amyotrophic lateral sclerosis 2 (juvenile)							170.0	156.0	160.0					2																	202622146		1862	4102	5964	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202622146G>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1450C>A	2.37:g.202622146G>T	ENSP00000264276:p.Leu484Ile						p.L484I	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			5	1822	-			484					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.1450C>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835620	0.71373	.	.	ENSG00000003393	ENST00000264276	T	0.58652	0.32	5.9	5.9	0.94986	.	0.064498	0.64402	D	0.000006	T	0.63581	0.2523	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.986	D;P;P	0.83275	0.996;0.872;0.744	T	0.59064	-0.7524	10	0.29301	T	0.29	.	14.4356	0.67279	0.07:0.0:0.93:0.0	.	484;484;484	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	I	484	ENSP00000264276:L484I	ENSP00000264276:L484I	L	-	1	0	ALS2	202330391	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.789000	0.69029	2.786000	0.95864	0.563000	0.77884	CTC		0.418	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		32	409	1	0	5.90632e-09	1	6.19411e-09	32	409				
RGS14	10636	broad.mit.edu	37	5	176795177	176795177	+	Silent	SNP	C	C	T	rs186599028		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176795177C>T	ENST00000408923.3	+	8	947	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	253					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTGCAAACGCCGCCTTGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18613	0.0		0.0	False		,,,				2504	0.0				NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(757-759)aaC>aaT		regulator of G-protein signaling 14		C		1,4005		0,1,2002	54.0	58.0	57.0		759	0.8	0.0	5		57	0,8332		0,0,4166	no	coding-synonymous	RGS14	NM_006480.4		0,1,6168	TT,TC,CC		0.0,0.025,0.0081		253/567	176795177	1,12337	2003	4166	6169	SO:0001819	synonymous_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176795177C>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.759C>T	5.37:g.176795177C>T							p.N253N	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	947	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	253					O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	c.759C>T	CCDS43405.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.088	0.384607	0.11524	2.5E-4	0.0	ENSG00000169220	ENST00000511890	.	.	.	3.64	0.788	0.18601	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	1.3967	0.02262	0.1395:0.3579:0.1371:0.3656	.	.	.	.	M	123	.	.	T	+	2	0	RGS14	176727783	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.014000	0.13333	-0.050000	0.13356	-0.424000	0.05967	ACG		0.647	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		90	259	0	0	0	1	0	90	259				
DAGLA	747	broad.mit.edu	37	11	61498802	61498802	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61498802G>A	ENST00000257215.5	+	9	979	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	288					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGATGCTCCGCTACAAAGAG	0.632																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(862-864)cGc>cAc		diacylglycerol lipase, alpha							88.0	79.0	82.0					11																	61498802		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61498802G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.863G>A	11.37:g.61498802G>A	ENSP00000257215:p.Arg288His						p.R288H	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	9	979	+			288					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.863G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609647	0.46527	.	.	ENSG00000134780	ENST00000257215	T	0.23950	1.88	4.83	4.83	0.62350	.	0.051766	0.85682	D	0.000000	T	0.18841	0.0452	N	0.14661	0.345	0.51767	D	0.999934	D	0.61080	0.989	P	0.45232	0.474	T	0.04840	-1.0923	10	0.15066	T	0.55	-31.8186	18.3022	0.90168	0.0:0.0:1.0:0.0	.	288	Q9Y4D2	DGLA_HUMAN	H	288	ENSP00000257215:R288H	ENSP00000257215:R288H	R	+	2	0	DAGLA	61255378	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	6.339000	0.72969	2.416000	0.81992	0.555000	0.69702	CGC		0.632	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		82	355	0	0	0	1	0	82	355				
HSPA13	6782	broad.mit.edu	37	21	15753528	15753528	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15753528A>C	ENST00000285667.3	-	2	429	c.362T>G	c.(361-363)tTt>tGt	p.F121C	HSPA13_ENST00000544452.1_De_novo_Start_InFrame|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	121						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTTACCTTAAATGGGTATCT	0.328																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(361-363)tTt>tGt		heat shock protein 70kDa family, member 13							83.0	86.0	85.0					21																	15753528		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15753528A>C		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.362T>G	21.37:g.15753528A>C	ENSP00000285667:p.Phe121Cys					HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_De_novo_Start_InFrame	p.F121C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			2	429	-			121					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.362T>G	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299836	0.81136	.	.	ENSG00000155304	ENST00000285667	T	0.01084	5.36	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00451	-1.1731	10	0.87932	D	0	-21.1643	15.8391	0.78831	1.0:0.0:0.0:0.0	.	121	P48723	HSP13_HUMAN	C	121	ENSP00000285667:F121C	ENSP00000285667:F121C	F	-	2	0	HSPA13	14675399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.958000	0.93099	2.144000	0.66660	0.528000	0.53228	TTT		0.328	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			106	352	0	0	0	1	0	106	352				
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(439-441)acG>acA		potassium voltage-gated channel, subfamily H (eag-related), member 5							85.0	82.0	83.0					14																	63453898		2203	4299	6502	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63453898C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.441G>A	14.37:g.63453898C>T						KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000394968.1_Silent_p.T89T	p.T147T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	709	-			147					C9JP98	Silent	SNP	ENST00000322893.7	37	c.441G>A	CCDS9756.1																																																																																				0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		65	267	0	0	0	1	0	65	267				
MORC3	23515	broad.mit.edu	37	21	37741529	37741529	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37741529G>A	ENST00000400485.1	+	15	1939	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	621					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTTGTGGCCAGACTGGTTCAA	0.453																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1861-1863)caG>caA		MORC family CW-type zinc finger 3							223.0	221.0	222.0					21																	37741529		2154	4253	6407	SO:0001819	synonymous_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741529G>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1863G>A	21.37:g.37741529G>A						MORC3_ENST00000487909.1_3'UTR	p.Q621Q	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	1939	+			621					A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	c.1863G>A	CCDS42924.1																																																																																				0.453	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		105	396	0	0	0	1	0	105	396				
LMO7	4008	broad.mit.edu	37	13	76395671	76395671	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76395671T>C	ENST00000321797.8	+	12	2588	c.1867T>C	c.(1867-1869)Tta>Cta	p.L623L	LMO7_ENST00000357063.3_Silent_p.L908L|LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000341547.4_Silent_p.L574L			Q8WWI1	LMO7_HUMAN	LIM domain 7	908					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TACAGTCAGGTTAACATCTGT	0.463																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2722-2724)Tta>Cta		LIM domain 7							70.0	67.0	68.0					13																	76395671		2203	4300	6503	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76395671T>C	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1867T>C	13.37:g.76395671T>C						LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000341547.4_Silent_p.L574L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000321797.8_Silent_p.L623L	p.L908L			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	15	3982	+		Breast(118;0.0992)	908					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.2722T>C		.	.	.	.	.	.	.	.	.	.	T	11.22	1.573555	0.28092	.	.	ENSG00000136153	ENST00000447038	.	.	.	5.91	3.44	0.39384	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	-11.9249	4.7432	0.13024	0.1283:0.2078:0.0:0.6639	.	.	.	.	A	531	.	.	V	+	2	0	LMO7	75293672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.822000	0.39052	0.465000	0.27167	0.528000	0.53228	GTT		0.463	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		17	315	0	0	0	1	0	17	315				
POLDIP3	84271	broad.mit.edu	37	22	42988051	42988051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42988051G>A	ENST00000252115.5	-	7	1035	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Silent_p.L155L|POLDIP3_ENST00000348657.2_Silent_p.L282L	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	311	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGATGGACCAGTCGAGCTCGC	0.542																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(931-933)Ctg>Ttg		polymerase (DNA-directed), delta interacting protein 3							177.0	154.0	162.0					22																	42988051		2203	4300	6503	SO:0001819	synonymous_variant	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42988051G>A		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.931C>T	22.37:g.42988051G>A						POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.L282L|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Silent_p.L155L	p.L311L	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN			7	1035	-			311			RRM.		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	c.931C>T	CCDS14038.1																																																																																				0.542	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		116	616	0	0	0	1	0	116	616				
FBXO40	51725	broad.mit.edu	37	3	121341875	121341875	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341875A>G	ENST00000338040.4	+	3	2013	c.1599A>G	c.(1597-1599)aaA>aaG	p.K533K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	533					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAAGGCAAAAGTAATCTATA	0.507																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1597-1599)aaA>aaG		F-box protein 40							53.0	53.0	53.0					3																	121341875		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341875A>G	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1599A>G	3.37:g.121341875A>G							p.K533K	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	2013	+			533					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.1599A>G	CCDS33835.1																																																																																				0.507	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		50	223	0	0	0	1	0	50	223				
C12orf5	57103	broad.mit.edu	37	12	4460469	4460469	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4460469C>T	ENST00000179259.4	+	5	374	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	103					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GCTAAGTGAGCTGAGGGCCAT	0.478																																					Colon(1;100 192 35375 49454 52532)	ENST00000179259.4																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10						c.(307-309)Ctg>Ttg		chromosome 12 open reading frame 5							106.0	99.0	101.0					12																	4460469		2203	4300	6503	SO:0001819	synonymous_variant	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4460469C>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.307C>T	12.37:g.4460469C>T						C12orf5_ENST00000537251.1_3'UTR	p.L103L	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		5	374	+			103					B2R840	Silent	SNP	ENST00000179259.4	37	c.307C>T	CCDS8525.1																																																																																				0.478	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		39	265	0	0	0	1	0	39	265				
EPHA8	2046	broad.mit.edu	37	1	22927925	22927925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22927925C>T	ENST00000166244.3	+	16	2934	c.2862C>T	c.(2860-2862)ggC>ggT	p.G954G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	954	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGCTGCGGGCGGATACTCCT	0.706																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2860-2862)ggC>ggT		EPH receptor A8							39.0	44.0	42.0					1																	22927925		2203	4297	6500	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927925C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2862C>T	1.37:g.22927925C>T							p.G954G	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	16	2934	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	954			SAM.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2862C>T	CCDS225.1																																																																																				0.706	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		87	317	0	0	0	1	0	87	317				
ABCA6	23460	broad.mit.edu	37	17	67106975	67106975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67106975T>C	ENST00000284425.2	-	17	2413	c.2239A>G	c.(2239-2241)Act>Gct	p.T747A		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	747					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGTGGCAAAGTATATACAAGC	0.294																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2239-2241)Act>Gct		ATP-binding cassette, sub-family A (ABC1), member 6							87.0	85.0	85.0					17																	67106975		2202	4300	6502	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67106975T>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2239A>G	17.37:g.67106975T>C	ENSP00000284425:p.Thr747Ala						p.T747A	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			17	2413	-	Breast(10;5.65e-12)		747					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.2239A>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.924235	0.34002	.	.	ENSG00000154262	ENST00000284425	T	0.62639	0.01	4.96	4.96	0.65561	.	0.257291	0.26828	N	0.022288	T	0.58977	0.2160	M	0.68317	2.08	0.80722	D	1	B	0.21225	0.053	B	0.25291	0.059	T	0.57069	-0.7874	10	0.33940	T	0.23	.	10.1012	0.42507	0.0:0.0817:0.0:0.9183	.	747	Q8N139	ABCA6_HUMAN	A	747	ENSP00000284425:T747A	ENSP00000284425:T747A	T	-	1	0	ABCA6	64618570	0.000000	0.05858	0.997000	0.53966	0.666000	0.39218	0.058000	0.14301	2.071000	0.62044	0.455000	0.32223	ACT		0.294	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		5	132	0	0	0	1	0	5	132				
OR2A2	442361	broad.mit.edu	37	7	143806742	143806742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143806742G>A	ENST00000408979.2	+	1	136	c.67G>A	c.(67-69)Gcg>Acg	p.A23T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCCAGCACTGGCGATTCTCCT	0.512																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(67-69)Gcg>Acg		olfactory receptor, family 2, subfamily A, member 2							141.0	137.0	138.0					7																	143806742		2003	4194	6197	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806742G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.67G>A	7.37:g.143806742G>A	ENSP00000386209:p.Ala23Thr						p.A23T	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	136	+	Melanoma(164;0.0783)		23					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.67G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513049	0.27123	.	.	ENSG00000221989	ENST00000408979	T	0.00438	7.42	3.5	1.64	0.23874	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.19575	N	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.43196	-0.9406	9	0.66056	D	0.02	.	3.436	0.07446	0.2475:0.2198:0.5326:0.0	.	23	Q6IF42	OR2A2_HUMAN	T	23	ENSP00000386209:A23T	ENSP00000386209:A23T	A	+	1	0	OR2A2	143437675	0.000000	0.05858	0.050000	0.19076	0.033000	0.12548	-0.007000	0.12810	0.802000	0.34089	0.609000	0.83330	GCG		0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			81	460	0	0	0	1	0	81	460				
CHPT1	56994	broad.mit.edu	37	12	102117041	102117041	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102117041G>A	ENST00000229266.3	+	6	1111	c.876G>A	c.(874-876)aaG>aaA	p.K292K	CHPT1_ENST00000549872.1_Silent_p.K292K	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	292					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTTTGAAAAGCATCCTTGTC	0.318																																						ENST00000549872.1																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(874-876)aaG>aaA		choline phosphotransferase 1							113.0	115.0	114.0					12																	102117041		2203	4300	6503	SO:0001819	synonymous_variant	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102117041G>A		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.876G>A	12.37:g.102117041G>A						CHPT1_ENST00000229266.3_Silent_p.K292K	p.K292K			Q8WUD6	CHPT1_HUMAN			6	1066	+			292					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Silent	SNP	ENST00000229266.3	37	c.876G>A	CCDS9086.1																																																																																				0.318	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		44	194	0	0	0	1	0	44	194				
TSHZ2	128553	broad.mit.edu	37	20	51871469	51871469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871469C>A	ENST00000371497.5	+	2	2359	c.1472C>A	c.(1471-1473)cCt>cAt	p.P491H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	491					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTACAAAAACCTTTAGACCCT	0.403																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1471-1473)cCt>cAt		teashirt zinc finger homeobox 2							74.0	80.0	78.0					20																	51871469		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871469C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1472C>A	20.37:g.51871469C>A	ENSP00000360552:p.Pro491His					TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H	p.P491H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2359	+			491					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1472C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679273	0.29783	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.28895	1.59;1.59	5.95	5.95	0.96441	.	0.344127	0.34700	N	0.003744	T	0.48537	0.1505	L	0.54323	1.7	0.52501	D	0.999952	D	0.69078	0.997	P	0.56865	0.808	T	0.24799	-1.0150	10	0.46703	T	0.11	-8.973	20.3655	0.98876	0.0:1.0:0.0:0.0	.	491	Q9NRE2	TSH2_HUMAN	H	491;488;17	ENSP00000360552:P491H;ENSP00000333114:P488H	ENSP00000333114:P488H	P	+	2	0	TSHZ2	51304876	0.966000	0.33281	0.094000	0.20943	0.013000	0.08279	4.562000	0.60816	2.822000	0.97130	0.643000	0.83706	CCT		0.403	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		24	480	1	0	9.95505e-16	1	1.08957e-15	24	480				
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820491A>C	ENST00000399989.1	+	2	457	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532																																						ENST00000399989.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(178-180)Agt>Cgt		melanoma antigen family B, 16							46.0	44.0	45.0					X																	35820491		1955	4120	6075	SO:0001583	missense	139604							g.chrX:35820491A>C		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.178A>C	X.37:g.35820491A>C	ENSP00000382871:p.Ser60Arg					MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R	p.S60R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN			2	457	+			60					A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.178A>C	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949479	0.18356	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	3.13	1.92	0.25849	Melanoma associated antigen, MAGE, N-terminal (1);	2.483160	0.01875	N	0.037471	T	0.13372	0.0324	L	0.53561	1.675	0.09310	N	1	B	0.32324	0.364	B	0.37943	0.261	T	0.30387	-0.9980	10	0.56958	D	0.05	.	5.7376	0.18075	0.7239:0.2761:0.0:0.0	.	60	A2A368	MAGBG_HUMAN	R	60;92;60;60;60	ENSP00000382870:S60R;ENSP00000382874:S92R;ENSP00000382869:S60R;ENSP00000382871:S60R;ENSP00000382867:S60R	ENSP00000382867:S60R	S	+	1	0	MAGEB16	35730412	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.012000	0.12699	0.444000	0.26612	0.423000	0.28283	AGT		0.532	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			18	65	0	0	0	1	0	18	65				
TMEM255A	55026	broad.mit.edu	37	X	119438305	119438305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119438305C>T	ENST00000309720.5	-	2	223	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM255A_ENST00000440464.1_Missense_Mutation_p.V34M|TMEM255A_ENST00000371369.4_Missense_Mutation_p.V34M	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	34						integral component of membrane (GO:0016021)											AGCAAAGTCACGGTGACATAG	0.448																																						ENST00000371369.4																			0											c.(100-102)Gtg>Atg		transmembrane protein 255A							188.0	144.0	159.0					X																	119438305		2203	4300	6503	SO:0001583	missense	55026							g.chrX:119438305C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.100G>A	X.37:g.119438305C>T	ENSP00000310110:p.Val34Met					TMEM255A_ENST00000309720.5_Missense_Mutation_p.V34M|TMEM255A_ENST00000440464.1_Missense_Mutation_p.V34M	p.V34M	NM_001104544.1	NP_001098014.1					2	326	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.100G>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225501	0.79576	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.55	5.55	0.83447	.	0.183542	0.47093	D	0.000260	T	0.68760	0.3036	M	0.72894	2.215	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.964;0.935;0.988	T	0.71481	-0.4580	10	0.62326	D	0.03	-8.2725	17.3935	0.87439	0.0:1.0:0.0:0.0	.	34;34;34	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	M	34	ENSP00000310110:V34M;ENSP00000360420:V34M;ENSP00000405781:V34M;ENSP00000428013:V34M	ENSP00000310110:V34M	V	-	1	0	FAM70A	119322333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.261000	0.78400	2.321000	0.78463	0.600000	0.82982	GTG		0.448	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		125	370	0	0	0	1	0	125	370				
TRBV20-1	28567	broad.mit.edu	37	7	142334683	142334683	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142334683C>T	ENST00000390394.3	+	0	183									T cell receptor beta variable 20-1																		CTGTGAAGATCGAGTGCCGTT	0.527											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390394.3																			0																				91.0	94.0	93.0					7																	142334683		1984	4155	6139			0							g.chr7:142334683C>T	M11955		7q34	2012-02-07			ENSG00000211747	ENSG00000211747		"""T cell receptors / TRB locus"""	12196	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV201, TCRBV20S1, TCRBV2S1			OTTHUMG00000158899		7.37:g.142334683C>T			OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1670									0	183	+									RNA	SNP	ENST00000390394.3	37																																																																																						0.527	TRBV20-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352511.2	NG_001333		95	398	0	0	0	1	0	95	398				
BRINP3	339479	broad.mit.edu	37	1	190067938	190067938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:190067938G>A	ENST00000367462.3	-	8	1742	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	BRINP3_ENST00000534846.1_Missense_Mutation_p.T402M	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	504					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCGTCTGTCCGTTTTCTGCAG	0.498																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1510-1512)aCg>aTg									160.0	154.0	156.0					1																	190067938		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190067938G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1511C>T	1.37:g.190067938G>A	ENSP00000356432:p.Thr504Met					FAM5C_ENST00000534846.1_Missense_Mutation_p.T402M|FAM5C_ENST00000484105.1_5'UTR	p.T504M	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1742	-	Prostate(682;0.198)		504					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1511C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	6.582	0.475662	0.12521	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.35973	1.28;1.28	5.75	4.84	0.62591	.	0.238609	0.42172	D	0.000755	T	0.10423	0.0255	N	0.01576	-0.805	0.09310	N	1	P;P	0.47106	0.89;0.606	B;B	0.35413	0.202;0.062	T	0.07214	-1.0784	10	0.17369	T	0.5	.	7.8088	0.29219	0.0816:0.0:0.7589:0.1595	.	402;504	B7Z260;Q76B58	.;FAM5C_HUMAN	M	504;402	ENSP00000356432:T504M;ENSP00000438022:T402M	ENSP00000356432:T504M	T	-	2	0	FAM5C	188334561	0.954000	0.32549	0.070000	0.20053	0.918000	0.54935	3.108000	0.50337	1.437000	0.47472	-0.216000	0.12614	ACG		0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		224	622	0	0	0	1	0	224	622				
MBNL2	10150	broad.mit.edu	37	13	98043610	98043610	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98043610A>G	ENST00000376673.3	+	8	1810	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000343600.4_Silent_p.E331E|MBNL2_ENST00000445661.2_Silent_p.E176E|MBNL2_ENST00000345429.6_3'UTR			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	343					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACGGAATGGAATGCCAAGAAT	0.338																																						ENST00000376673.3																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(1027-1029)gaA>gaG		muscleblind-like splicing regulator 2							141.0	124.0	130.0					13																	98043610		2203	4300	6503	SO:0001819	synonymous_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:98043610A>G	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.1029A>G	13.37:g.98043610A>G						MBNL2_ENST00000445661.2_Silent_p.E176E|MBNL2_ENST00000343600.4_Silent_p.E331E|MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000345429.6_3'UTR	p.E343E			Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		8	1810	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		343					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	37	c.1029A>G																																																																																					0.338	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		45	305	0	0	0	1	0	45	305				
CEP152	22995	broad.mit.edu	37	15	49081138	49081138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49081138C>T	ENST00000380950.2	-	9	1220	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CEP152_ENST00000325747.5_Missense_Mutation_p.D252N|CEP152_ENST00000399334.3_Missense_Mutation_p.D345N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	345					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGATGAAGGTCCACCAGCTGC	0.408																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1033-1035)Gac>Aac		centrosomal protein 152kDa							165.0	152.0	156.0					15																	49081138		1941	4143	6084	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49081138C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1033G>A	15.37:g.49081138C>T	ENSP00000370337:p.Asp345Asn					CEP152_ENST00000325747.5_Missense_Mutation_p.D252N|CEP152_ENST00000399334.3_Missense_Mutation_p.D345N	p.D345N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	9	1220	-		all_lung(180;0.0428)	345					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1033G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226869	0.79576	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80304	-1.36;-1.36;-1.36	6.03	6.03	0.97812	.	0.240671	0.48286	D	0.000186	D	0.86176	0.5870	L	0.45581	1.43	0.43782	D	0.99631	D;D;D	0.69078	0.977;0.997;0.976	P;P;P	0.59357	0.787;0.856;0.724	D	0.86157	0.1591	10	0.72032	D	0.01	-14.6367	20.5568	0.99304	0.0:1.0:0.0:0.0	.	252;345;345	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	345;252;345;345	ENSP00000370337:D345N;ENSP00000321000:D252N;ENSP00000382271:D345N	ENSP00000321000:D252N	D	-	1	0	CEP152	46868430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.306000	0.72810	2.861000	0.98227	0.655000	0.94253	GAC		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		110	571	0	0	0	1	0	110	571				
HTRA2	27429	broad.mit.edu	37	2	74757547	74757547	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74757547G>A	ENST00000258080.3	+	1	1044	c.414G>A	c.(412-414)ccG>ccA	p.P138P	HTRA2_ENST00000352222.3_Silent_p.P138P|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	138					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCCCTAGCCCGCCGCCCGCTT	0.672																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(412-414)ccG>ccA		HtrA serine peptidase 2							7.0	9.0	8.0					2																	74757547		2127	4186	6313	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757547G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.414G>A	2.37:g.74757547G>A						HTRA2_ENST00000352222.3_Silent_p.P138P|HTRA2_ENST00000467961.1_Intron	p.P138P	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	1044	+			138					Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.414G>A	CCDS1951.1																																																																																				0.672	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		31	85	0	0	0	1	0	31	85				
HIBADH	11112	broad.mit.edu	37	7	27565856	27565856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27565856G>T	ENST00000265395.2	-	8	1194	c.988C>A	c.(988-990)Cta>Ata	p.L330I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	330					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			TCCTCTCGTAGGAACTGGAAC	0.502																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(988-990)Cta>Ata		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						111.0	84.0	93.0					7																	27565856		2203	4300	6503	SO:0001583	missense	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27565856G>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.988C>A	7.37:g.27565856G>T	ENSP00000265395:p.Leu330Ile						p.L330I	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		8	1194	-			330					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.988C>A	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441916	0.63067	.	.	ENSG00000106049	ENST00000265395	T	0.36340	1.26	6.16	5.29	0.74685	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.71920	2.185	0.80722	D	1	B	0.27997	0.197	P	0.49665	0.618	T	0.55717	-0.8097	10	0.45353	T	0.12	-1.5058	7.2851	0.26333	0.2718:0.0:0.7282:0.0	.	330	P31937	3HIDH_HUMAN	I	330	ENSP00000265395:L330I	ENSP00000265395:L330I	L	-	1	2	HIBADH	27532381	1.000000	0.71417	0.867000	0.34043	0.821000	0.46438	4.995000	0.63908	1.629000	0.50426	0.650000	0.86243	CTA		0.502	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		34	114	1	0	9.65021e-13	1	1.03847e-12	34	114				
ECM1	1893	broad.mit.edu	37	1	150483559	150483559	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150483559C>A	ENST00000369047.4	+	6	718	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	198	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTACCACAGTCCAGCTACTCC	0.572																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(592-594)tCc>tAc		extracellular matrix protein 1							143.0	146.0	145.0					1																	150483559		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150483559C>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.593C>A	1.37:g.150483559C>A	ENSP00000358043:p.Ser198Tyr					ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y	p.S198Y	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	718	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		198			2 X approximate repeats.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.593C>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672578	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.77098	-1.07;-1.07;-1.07	5.04	5.04	0.67666	.	0.632800	0.15972	N	0.235704	T	0.81697	0.4877	L	0.53249	1.67	0.38322	D	0.943551	D;D;D;D;D;D	0.71674	0.995;0.998;0.991;0.998;0.993;0.998	D;D;P;D;P;D	0.68483	0.913;0.914;0.904;0.958;0.827;0.958	T	0.83003	-0.0176	10	0.87932	D	0	-4.0979	13.7487	0.62894	0.0:1.0:0.0:0.0	.	120;127;225;198;198;198	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	Y	225;198;198	ENSP00000358045:S225Y;ENSP00000358043:S198Y;ENSP00000271630:S198Y	ENSP00000271630:S198Y	S	+	2	0	ECM1	148750183	0.992000	0.36948	0.997000	0.53966	0.958000	0.62258	2.324000	0.43831	2.640000	0.89533	0.655000	0.94253	TCC		0.572	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		87	1273	1	0	3.37043e-27	1	3.8985e-27	87	1273				
ZNF91	7644	broad.mit.edu	37	19	23545140	23545140	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545140T>G	ENST00000300619.7	-	4	846	c.641A>C	c.(640-642)gAa>gCa	p.E214A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	214					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTTTCACATTCTTTACATTT	0.328																																						ENST00000300619.7																			0											c.(640-642)gAa>gCa		zinc finger protein 91							74.0	77.0	76.0					19																	23545140		2129	4266	6395	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545140T>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.641A>C	19.37:g.23545140T>G	ENSP00000300619:p.Glu214Ala					ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A|ZNF91_ENST00000599743.1_Intron	p.E214A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	846	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	214					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.641A>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	6.550	0.469727	0.12461	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16897	2.31;2.31	1.64	0.397	0.16314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24470	0.0593	M	0.88377	2.95	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.30090	-0.9990	9	0.66056	D	0.02	.	6.3699	0.21475	0.0:0.0:0.2523:0.7477	.	182;214	Q05481-2;Q05481	.;ZNF91_HUMAN	A	214;182	ENSP00000300619:E214A;ENSP00000380272:E182A	ENSP00000300619:E214A	E	-	2	0	ZNF91	23336980	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	0.261000	0.18442	-0.159000	0.11021	0.147000	0.16070	GAA		0.328	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		10	282	0	0	0	1	0	10	282				
GAPT	202309	broad.mit.edu	37	5	57790515	57790515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57790515G>A	ENST00000396776.2	+	3	614	c.152G>A	c.(151-153)aGc>aAc	p.S51N	GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	51					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAAAGGAGAAGCAGCAGGAGA	0.448																																						ENST00000396776.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(151-153)aGc>aAc		GRB2-binding adaptor protein, transmembrane							65.0	65.0	65.0					5																	57790515		2203	4300	6503	SO:0001583	missense	202309				B cell activation	integral to membrane|plasma membrane		g.chr5:57790515G>A	AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.152G>A	5.37:g.57790515G>A	ENSP00000379997:p.Ser51Asn					GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	p.S51N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN			3	614	+			51						Missense_Mutation	SNP	ENST00000396776.2	37	c.152G>A	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	G	7.803	0.713986	0.15306	.	.	ENSG00000175857	ENST00000502276;ENST00000396776;ENST00000511930;ENST00000318469	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.82	-0.16	0.13375	.	0.655330	0.14962	N	0.288322	T	0.30355	0.0762	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.18304	-1.0341	10	0.56958	D	0.05	-2.826	5.2222	0.15375	0.2925:0.1463:0.5612:0.0	.	51	Q8N292	GAPT_HUMAN	N	51	ENSP00000423113:S51N;ENSP00000379997:S51N;ENSP00000422645:S51N;ENSP00000323075:S51N	ENSP00000323075:S51N	S	+	2	0	GAPT	57826272	0.044000	0.20184	0.107000	0.21349	0.270000	0.26580	0.039000	0.13884	-0.152000	0.11156	0.591000	0.81541	AGC		0.448	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1	NM_152687		49	223	0	0	0	1	0	49	223				
OSBPL2	9885	broad.mit.edu	37	20	60861650	60861650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60861650C>T	ENST00000313733.3	+	11	1210	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	OSBPL2_ENST00000439951.2_Silent_p.S244S|OSBPL2_ENST00000358053.2_Silent_p.S324S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	336					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATGAAGACTCCGGGAAGGCTG	0.627																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1006-1008)tcC>tcT		oxysterol binding protein-like 2							100.0	97.0	98.0					20																	60861650		2203	4300	6503	SO:0001819	synonymous_variant	9885				lipid transport		lipid binding	g.chr20:60861650C>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1008C>T	20.37:g.60861650C>T						OSBPL2_ENST00000439951.2_Silent_p.S244S|OSBPL2_ENST00000358053.2_Silent_p.S324S	p.S336S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		11	1210	+	Breast(26;7.76e-09)		336					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	c.1008C>T	CCDS13495.1																																																																																				0.627	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		178	764	0	0	0	1	0	178	764				
ACTRT2	140625	broad.mit.edu	37	1	2938529	2938529	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2938529C>A	ENST00000378404.2	+	1	484	c.279C>A	c.(277-279)ctC>ctA	p.L93L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	93						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGAAGCACCTCTTTGAGTGGG	0.612																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(277-279)ctC>ctA		actin-related protein T2							88.0	90.0	89.0					1																	2938529		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938529C>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.279C>A	1.37:g.2938529C>A							p.L93L	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	484	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	93					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.279C>A	CCDS45.1																																																																																				0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		78	369	1	0	1.50424e-25	1	1.72683e-25	78	369				
CASP7	840	broad.mit.edu	37	10	115485189	115485189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115485189G>A	ENST00000345633.4	+	6	829	c.445G>A	c.(445-447)Gta>Ata	p.V149I	CASP7_ENST00000452490.2_Missense_Mutation_p.V124I|CASP7_ENST00000369331.4_Splice_Site|CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369321.2_Missense_Mutation_p.V182I|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	149					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGAAGAAAATGTAATTTATGG	0.418																																						ENST00000369321.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(544-546)Gta>Ata		caspase 7, apoptosis-related cysteine peptidase							68.0	69.0	69.0					10																	115485189		2203	4300	6503	SO:0001583	missense	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115485189G>A	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.445G>A	10.37:g.115485189G>A	ENSP00000298701:p.Val149Ile					CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I|CASP7_ENST00000452490.2_Missense_Mutation_p.V124I|CASP7_ENST00000369331.4_Splice_Site|CASP7_ENST00000345633.4_Missense_Mutation_p.V149I	p.V182I	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	6	864	+		Colorectal(252;0.0946)|Breast(234;0.188)	149					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	c.544G>A	CCDS7581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.498|8.498	0.863645|0.863645	0.17250|0.17250	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000429617;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000369315;ENST00000452490	.|T;T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56;1.56	5.68|5.68	-4.79|-4.79	0.03200|0.03200	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.|0.614966	.|0.17679	.|N	.|0.165713	.|T	.|0.16085	.|0.0387	L|L	0.35414|0.35414	1.06|1.06	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22346	.|0.049;0.009;0.068;0.044	.|B;B;B;B	.|0.17722	.|0.012;0.017;0.011;0.019	.|T	.|0.33007	.|-0.9885	.|10	.|0.13470	.|T	.|0.59	.|.	9.6905|9.6905	0.40125|0.40125	0.0:0.517:0.2157:0.2673|0.0:0.517:0.2157:0.2673	.|.	.|124;157;182;149	.|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	.|I	-1|149;182;149;149;149;124	.|ENSP00000400094:V149I;ENSP00000358327:V182I;ENSP00000298701:V149I;ENSP00000358324:V149I;ENSP00000358321:V149I;ENSP00000398107:V124I	.|ENSP00000298701:V149I	.|V	+|+	.|1	.|0	CASP7|CASP7	115475179|115475179	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.849000|0.849000	0.48306|0.48306	-0.444000|-0.444000	0.06854|0.06854	-0.821000|-0.821000	0.04312|0.04312	-1.245000|-1.245000	0.01525|0.01525	.|GTA		0.418	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		50	255	0	0	0	1	0	50	255				
LPO	4025	broad.mit.edu	37	17	56326984	56326984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326984G>T	ENST00000262290.4	+	6	817	c.501G>T	c.(499-501)gaG>gaT	p.E167D	LPO_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000543544.1_Missense_Mutation_p.E108D|LPO_ENST00000421678.2_Missense_Mutation_p.E84D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	167					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCCCGCGGAGTACGAGGACG	0.726																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(499-501)gaG>gaT		lactoperoxidase							14.0	16.0	15.0					17																	56326984		2154	4238	6392	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56326984G>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.501G>T	17.37:g.56326984G>T	ENSP00000262290:p.Glu167Asp					LPO_ENST00000543544.1_Missense_Mutation_p.E108D|LPO_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000421678.2_Missense_Mutation_p.E84D	p.E167D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			6	817	+			167					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.501G>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759121	0.69763	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.68765	-0.35;-0.35;-0.35	5.45	0.544	0.17185	.	0.164449	0.52532	D	0.000062	T	0.48537	0.1505	L	0.39147	1.195	0.37990	D	0.93387	B;B;B;B	0.26363	0.046;0.021;0.147;0.147	B;B;B;B	0.33121	0.063;0.068;0.112;0.158	T	0.18335	-1.0340	10	0.15066	T	0.55	.	2.1383	0.03768	0.213:0.1522:0.4796:0.1552	.	84;84;108;167	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	D	167;84;108	ENSP00000262290:E167D;ENSP00000400245:E84D;ENSP00000445344:E108D	ENSP00000262290:E167D	E	+	3	2	LPO	53681983	0.999000	0.42202	0.998000	0.56505	0.986000	0.74619	0.577000	0.23758	0.621000	0.30232	0.655000	0.94253	GAG		0.726	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			24	121	1	0	3.6726e-16	1	4.02855e-16	24	121				
KCNJ13	3769	broad.mit.edu	37	2	233635952	233635952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233635952G>A	ENST00000233826.3	-	2	260	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	41					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GCATCTCGAAGATATGCAAGA	0.483																																						ENST00000233826.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(121-123)Ctt>Ttt		potassium inwardly-rectifying channel, subfamily J, member 13							161.0	143.0	149.0					2																	233635952		2203	4300	6503	SO:0001583	missense	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635952G>A	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.121C>T	2.37:g.233635952G>A	ENSP00000233826:p.Leu41Phe					KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000452341.2_Intron	p.L41F	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	2	260	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	41					A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	c.121C>T	CCDS2498.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.589267|3.589267	0.66105|0.66105	.|.	.|.	ENSG00000115474|ENSG00000115474	ENST00000233826;ENST00000409779;ENST00000410029|ENST00000444142	D;D;D|.	0.96200|.	-3.94;-3.94;-3.94|.	5.54|5.54	4.66|4.66	0.58398|0.58398	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71204|0.71204	0.3312|0.3312	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.981|.	D;P|.	0.75020|.	0.985;0.88|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.48119|.	T|.	0.1|.	.|.	14.3369|14.3369	0.66598|0.66598	0.0713:0.0:0.9287:0.0|0.0713:0.0:0.9287:0.0	.|.	41;41|.	O60928;A0PGH1|.	IRK13_HUMAN;.|.	F|F	41|8	ENSP00000233826:L41F;ENSP00000386408:L41F;ENSP00000386251:L41F|.	ENSP00000233826:L41F|.	L|S	-|-	1|2	0|0	KCNJ13|KCNJ13	233344196|233344196	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.957000|0.957000	0.61999|0.61999	4.747000|4.747000	0.62141|0.62141	1.338000|1.338000	0.45544|0.45544	-0.136000|-0.136000	0.14681|0.14681	CTT|TCT		0.483	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		93	276	0	0	0	1	0	93	276				
CYP2B6	1555	broad.mit.edu	37	19	41518231	41518231	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41518231G>A	ENST00000324071.4	+	7	1000	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CYP2B6_ENST00000593831.1_Silent_p.V95V|CYP2B6_ENST00000330446.5_Silent_p.V131V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	331					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TTGAACAGGTGATTGGCCCAC	0.483																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(991-993)gtG>gtA		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						85.0	68.0	74.0					19																	41518231		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41518231G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.993G>A	19.37:g.41518231G>A						CYP2B6_ENST00000593831.1_Silent_p.V95V|CYP2B6_ENST00000330446.5_Silent_p.V131V	p.V331V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		7	1000	+			331					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.993G>A	CCDS12570.1																																																																																				0.483	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		53	180	0	0	0	1	0	53	180				
MEP1A	4224	broad.mit.edu	37	6	46794235	46794235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46794235G>A	ENST00000230588.4	+	9	932	c.923G>A	c.(922-924)tGc>tAc	p.C308Y		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	308	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGGGACAATGCACAGGTCAG	0.483																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(922-924)tGc>tAc		meprin A, alpha (PABA peptide hydrolase)							142.0	131.0	135.0					6																	46794235		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46794235G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.923G>A	6.37:g.46794235G>A	ENSP00000230588:p.Cys308Tyr						p.C308Y	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		9	932	+			308			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.923G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054545	0.75960	.	.	ENSG00000112818	ENST00000230588	T	0.24723	1.84	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66168	-0.5991	10	0.87932	D	0	-26.3005	20.2822	0.98520	0.0:0.0:1.0:0.0	.	336;308	B7ZL91;Q16819	.;MEP1A_HUMAN	Y	308	ENSP00000230588:C308Y	ENSP00000230588:C308Y	C	+	2	0	MEP1A	46902194	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	7.554000	0.82212	2.806000	0.96561	0.655000	0.94253	TGC		0.483	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		77	334	0	0	0	1	0	77	334				
MUC5AC	4586	broad.mit.edu	37	11	1157814	1157814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1157814A>G	ENST00000356191.2	+	13	872	c.872A>G	c.(871-873)gAc>gGc	p.D291G				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	294					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TGCAGGCAAGACCTCTGCTTC	0.642																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(871-873)gAc>gGc		mucin 5AC, oligomeric mucus/gel-forming							75.0	74.0	74.0					11																	1157814		875	1990	2865	SO:0001583	missense	4586							g.chr11:1157814A>G	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.872A>G	11.37:g.1157814A>G	ENSP00000348519:p.Asp291Gly						p.D291G						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	13	872	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.872A>G		.	.	.	.	.	.	.	.	.	.	a	13.34	2.206492	0.39003	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.80214	-1.35;-1.35	3.19	2.05	0.26809	.	.	.	.	.	D	0.88880	0.6557	M	0.86953	2.85	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.89615	0.3844	8	0.87932	D	0	.	8.0238	0.30425	0.8997:0.0:0.1003:0.0	.	294	A7Y9J9	.	G	294;291	ENSP00000435591:D294G;ENSP00000348519:D291G	ENSP00000348519:D291G	D	+	2	0	MUC5AC	1147814	1.000000	0.71417	0.077000	0.20336	0.161000	0.22273	8.272000	0.89885	0.462000	0.27095	0.358000	0.22013	GAC		0.642	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		57	309	0	0	0	1	0	57	309				
RUFY3	22902	broad.mit.edu	37	4	71648856	71648856	+	Nonsense_Mutation	SNP	C	C	T	rs368406328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71648856C>T	ENST00000226328.4	+	9	1506	c.943C>T	c.(943-945)Cga>Tga	p.R315*	RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	315					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGAAATGGAACGAGTTAAAGA	0.308																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(943-945)Cga>Tga		RUN and FYVE domain containing 3							68.0	67.0	67.0					4																	71648856		2203	4300	6503	SO:0001587	stop_gained	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71648856C>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.943C>T	4.37:g.71648856C>T	ENSP00000226328:p.Arg315*					RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*	p.R315*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		9	1506	+		all_hematologic(202;0.248)	315					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Nonsense_Mutation	SNP	ENST00000226328.4	37	c.943C>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	37	6.280902	0.97440	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-10.6392	14.6544	0.68823	0.1453:0.8547:0.0:0.0	.	.	.	.	X	375;315;315;299;262	.	ENSP00000226328:R315X	R	+	1	2	RUFY3	71867720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.594000	0.36697	2.683000	0.91414	0.655000	0.94253	CGA		0.308	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		27	149	0	0	0	1	0	27	149				
CD207	50489	broad.mit.edu	37	2	71062889	71062889	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062889C>A	ENST00000410009.3	-	1	63	c.18G>T	c.(16-18)gaG>gaT	p.E6D		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	6					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CATCAGGGGCCTCCTTCTCCA	0.562																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(16-18)gaG>gaT		CD207 molecule, langerin							90.0	97.0	95.0					2																	71062889		2094	4222	6316	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71062889C>A	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.18G>T	2.37:g.71062889C>A	ENSP00000386378:p.Glu6Asp						p.E6D	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			1	63	-			6						Missense_Mutation	SNP	ENST00000410009.3	37	c.18G>T		.	.	.	.	.	.	.	.	.	.	C	11.42	1.634852	0.29068	.	.	ENSG00000116031	ENST00000410009	T	0.04706	3.57	4.24	2.42	0.29668	.	0.132092	0.34676	N	0.003765	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.21655	-1.0239	10	0.36615	T	0.2	.	5.8743	0.18820	0.0:0.7655:0.0:0.2345	.	6	Q9UJ71	CLC4K_HUMAN	D	6	ENSP00000386378:E6D	ENSP00000386378:E6D	E	-	3	2	CD207	70916397	0.062000	0.20869	0.201000	0.23476	0.052000	0.14988	0.268000	0.18571	1.114000	0.41781	0.655000	0.94253	GAG		0.562	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	94	1	0	0.184627	1	0.18487	5	94				
MACF1	23499	broad.mit.edu	37	1	39896528	39896528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39896528C>A	ENST00000372915.3	+	64	17060	c.16973C>A	c.(16972-16974)aCt>aAt	p.T5658N	MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000564288.1_Missense_Mutation_p.T5762N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5658					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCAGTGACACTATTGGACAA	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(17284-17286)aCt>aAt		microtubule-actin crosslinking factor 1							165.0	144.0	151.0					1																	39896528		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39896528C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16973C>A	1.37:g.39896528C>A	ENSP00000362006:p.Thr5658Asn					MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000372915.3_Missense_Mutation_p.T5658N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N	p.T5762N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		66	18062	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5767					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.17285C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265183|4.265183	0.80358|0.80358	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.35421	.|1.32;1.31;1.32;1.31;1.32;1.32	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.088123	.|0.49305	.|D	.|0.000148	T|T	0.51329|0.51329	0.1668|0.1668	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53151	.|0.942;0.958;0.928	.|P;P;P	.|0.54346	.|0.561;0.749;0.614	T|T	0.47484|0.47484	-0.9114|-0.9114	5|10	.|0.56958	.|D	.|0.05	.|.	19.9093|19.9093	0.97021|0.97021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5658;3700;3644	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	Q|N	2703|3700;5658;3700;3700;3570;4202	.|ENSP00000439537:T3700N;ENSP00000362006:T5658N;ENSP00000354573:T3700N;ENSP00000313438:T3700N;ENSP00000444364:T3570N;ENSP00000289893:T4202N	.|ENSP00000289893:T4202N	H|T	+|+	3|2	2|0	MACF1|MACF1	39669115|39669115	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	3.956000|3.956000	0.56722|0.56722	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	CAC|ACT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		20	289	1	0	1.00905e-13	1	1.09121e-13	20	289				
FBXW2	26190	broad.mit.edu	37	9	123538497	123538497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123538497G>A	ENST00000608872.1	-	5	880	c.693C>T	c.(691-693)agC>agT	p.S231S	FBXW2_ENST00000340778.5_Silent_p.S166S|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	231					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGTAGTCCACGCTAAATACTA	0.378																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(691-693)agC>agT		F-box and WD repeat domain containing 2							103.0	103.0	103.0					9																	123538497		2031	4194	6225	SO:0001819	synonymous_variant	0				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123538497G>A	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.693C>T	9.37:g.123538497G>A						FBXW2_ENST00000340778.5_Silent_p.S166S|FBXW2_ENST00000493559.1_5'UTR	p.S231S	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			5	880	-			231					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	ENST00000608872.1	37	c.693C>T	CCDS43872.1																																																																																				0.378	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			35	416	0	0	0	1	0	35	416				
OVOL1	5017	broad.mit.edu	37	11	65562523	65562523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65562523G>A	ENST00000335987.3	+	4	867	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	172					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ACAGGCGTGCGGCCCTACAAG	0.607																																						ENST00000335987.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(514-516)cGg>cAg		ovo-like zinc finger 1							46.0	39.0	41.0					11																	65562523		2201	4297	6498	SO:0001583	missense	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65562523G>A	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.515G>A	11.37:g.65562523G>A	ENSP00000337862:p.Arg172Gln					OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q	p.R172Q	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	4	867	+			172					Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	37	c.515G>A	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313980	0.95655	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.19806	2.12;2.12	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.086427	0.47852	N	0.000209	T	0.44519	0.1297	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42050	-0.9474	10	0.87932	D	0	-40.47	15.5686	0.76313	0.0:0.0:1.0:0.0	.	172	O14753	OVOL1_HUMAN	Q	172;110	ENSP00000337862:R172Q;ENSP00000434220:R110Q	ENSP00000337862:R172Q	R	+	2	0	OVOL1	65319099	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.787000	0.99055	2.266000	0.75297	0.561000	0.74099	CGG		0.607	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		35	123	0	0	0	1	0	35	123				
CAPN15	6650	broad.mit.edu	37	16	601376	601376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:601376G>A	ENST00000219611.2	+	8	2504	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	714	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGGGCCTGCGCCCCCGGCAT	0.682																																						ENST00000219611.2																			0											c.(2140-2142)cGc>cAc		calpain 15							52.0	61.0	58.0					16																	601376		2200	4297	6497	SO:0001583	missense	6650							g.chr16:601376G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2141G>A	16.37:g.601376G>A	ENSP00000219611:p.Arg714His					LA16c-366D1.3_ENST00000565879.1_RNA	p.R714H	NM_005632.2	NP_005623.1					8	2504	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2141G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	29.2	4.989237	0.93106	.	.	ENSG00000103326	ENST00000219611	D	0.87809	-2.3	5.36	5.36	0.76844	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92401	0.5929	10	0.72032	D	0.01	.	17.6567	0.88180	0.0:0.0:1.0:0.0	.	714	O75808	CAN15_HUMAN	H	714	ENSP00000219611:R714H	ENSP00000219611:R714H	R	+	2	0	SOLH	541377	1.000000	0.71417	0.995000	0.50966	0.793000	0.44817	9.745000	0.98856	2.509000	0.84616	0.556000	0.70494	CGC		0.682	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		90	381	0	0	0	1	0	90	381				
ARID2	196528	broad.mit.edu	37	12	46254587	46254587	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46254587A>G	ENST00000334344.6	+	16	4949	c.4777A>G	c.(4777-4779)Act>Gct	p.T1593A	ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.T201A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1593					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCACAGAACACTCCTATGCC	0.393			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4777-4779)Act>Gct		AT rich interactive domain 2 (ARID, RFX-like)							64.0	60.0	62.0					12																	46254587		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46254587A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4777A>G	12.37:g.46254587A>G	ENSP00000335044:p.Thr1593Ala					ARID2_ENST00000457135.1_Missense_Mutation_p.T201A|ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A	p.T1593A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	16	4949	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1593					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4777A>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865393	0.51588	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T;T	0.34072	1.38;1.57	5.86	5.86	0.93980	.	0.157958	0.56097	D	0.000029	T	0.38214	0.1032	L	0.44542	1.39	0.40793	D	0.983272	B;B;B	0.33022	0.394;0.394;0.15	B;B;B	0.37650	0.255;0.12;0.041	T	0.29243	-1.0018	10	0.56958	D	0.05	-15.3707	16.2644	0.82568	1.0:0.0:0.0:0.0	.	1593;1203;1593	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1593;710;710;1444;1203;201	ENSP00000335044:T1593A;ENSP00000388357:T201A	ENSP00000335044:T1593A	T	+	1	0	ARID2	44540854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.876000	0.48498	2.244000	0.73946	0.528000	0.53228	ACT		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		44	214	0	0	0	1	0	44	214				
CCNB2	9133	broad.mit.edu	37	15	59399591	59399591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59399591G>A	ENST00000288207.2	+	2	286	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	32					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						ACTATTAGGCGAACTGTTTTA	0.353																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(94-96)cGa>cAa		cyclin B2							78.0	77.0	77.0					15																	59399591		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59399591G>A	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.95G>A	15.37:g.59399591G>A	ENSP00000288207:p.Arg32Gln					CCNB2_ENST00000559622.1_Intron	p.R32Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN			2	286	+			32					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.95G>A	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565353	0.65651	.	.	ENSG00000157456	ENST00000288207	T	0.22539	1.95	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59096	-0.7518	10	0.87932	D	0	.	15.4855	0.75564	0.0:0.0:1.0:0.0	.	32	O95067	CCNB2_HUMAN	Q	32	ENSP00000288207:R32Q	ENSP00000288207:R32Q	R	+	2	0	CCNB2	57186883	1.000000	0.71417	0.356000	0.25785	0.461000	0.32589	6.531000	0.73820	2.410000	0.81850	0.563000	0.77884	CGA		0.353	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		63	261	0	0	0	1	0	63	261				
ZNF19	7567	broad.mit.edu	37	16	71515996	71515996	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71515996C>A	ENST00000288177.5	-	3	277	c.22G>T	c.(22-24)Gct>Tct	p.A8S	ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000568446.1_5'Flank|ZNF19_ENST00000564230.1_Missense_Mutation_p.A8S|ZNF19_ENST00000567225.1_Missense_Mutation_p.A8S|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565100.2_5'UTR	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGGTATTGAGCTTTCAGAGGC	0.507																																						ENST00000561908.1																			0											c.(22-24)Gct>Tct									65.0	52.0	57.0					16																	71515996		2198	4300	6498	SO:0001583	missense	0							g.chr16:71515996C>A	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.22G>T	16.37:g.71515996C>A	ENSP00000288177:p.Ala8Ser					ZNF19_ENST00000564230.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000567225.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.A8S	p.A8S							3	524	-								A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.22G>T	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	7.008	0.556229	0.13436	.	.	ENSG00000157429	ENST00000288177	T	0.05447	3.44	2.62	0.54	0.17163	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.33668	1.02	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.40040	-0.9584	9	0.39692	T	0.17	.	5.5727	0.17206	0.1911:0.6832:0.0:0.1257	.	8	P17023	ZNF19_HUMAN	S	8	ENSP00000288177:A8S	ENSP00000288177:A8S	A	-	1	0	ZNF19	70073497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.308000	0.08156	-0.093000	0.12396	-1.579000	0.00862	GCT		0.507	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		28	100	1	0	5.45727e-16	1	5.98072e-16	28	100				
CHST8	64377	broad.mit.edu	37	19	34263465	34263465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263465C>T	ENST00000262622.4	+	4	1530	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CHST8_ENST00000434302.1_Missense_Mutation_p.R258C|CHST8_ENST00000438847.3_Missense_Mutation_p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	258					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTCTTTGTCCGCGAGCCCTT	0.607																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(772-774)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							113.0	103.0	107.0					19																	34263465		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263465C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.772C>T	19.37:g.34263465C>T	ENSP00000262622:p.Arg258Cys					CHST8_ENST00000434302.1_Missense_Mutation_p.R258C|CHST8_ENST00000438847.2_Missense_Mutation_p.R258C	p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1530	+	Esophageal squamous(110;0.162)		258					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.772C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581599	0.65992	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	D;D;D	0.94376	-3.41;-3.41;-3.41	4.73	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.97288	0.9113	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-3.592	13.2052	0.59790	0.1607:0.8393:0.0:0.0	.	258	Q9H2A9	CHST8_HUMAN	C	258	ENSP00000392604:R258C;ENSP00000393879:R258C;ENSP00000262622:R258C	ENSP00000262622:R258C	R	+	1	0	CHST8	38955305	1.000000	0.71417	0.587000	0.28692	0.791000	0.44710	4.738000	0.62073	0.943000	0.37553	0.297000	0.19635	CGC		0.607	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		113	487	0	0	0	1	0	113	487				
BNC2	54796	broad.mit.edu	37	9	16437072	16437072	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16437072T>C	ENST00000380672.4	-	6	1177	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A	BNC2_ENST00000545497.1_Missense_Mutation_p.T279A|BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000380666.2_Missense_Mutation_p.T374A	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTATAAGGTGTGGGAGAAACT	0.473																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1120-1122)Aca>Gca		basonuclin 2							110.0	112.0	111.0					9																	16437072		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437072T>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1120A>G	9.37:g.16437072T>C	ENSP00000370047:p.Thr374Ala					BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000380666.2_Missense_Mutation_p.T374A|BNC2_ENST00000545497.1_Missense_Mutation_p.T279A	p.T374A	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1177	-			374						Missense_Mutation	SNP	ENST00000380672.4	37	c.1120A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	7.413	0.635166	0.14322	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.29397	1.57;1.57;1.58;1.58;1.57	5.96	5.96	0.96718	.	0.102553	0.64402	D	0.000002	T	0.17365	0.0417	N	0.14661	0.345	0.37568	D	0.919307	B;B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.001;0.004;0.001;0.0;0.0;0.0;0.002	B;B;B;B;B;B;B;B;B	0.12156	0.001;0.0;0.001;0.007;0.003;0.0;0.0;0.0;0.001	T	0.18681	-1.0329	10	0.11485	T	0.65	-11.4966	11.4686	0.50254	0.0:0.0695:0.0:0.9305	.	279;307;374;200;374;331;374;279;139	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	374;331;307;279;200;374;374	ENSP00000370047:T374A;ENSP00000408370:T331A;ENSP00000370042:T307A;ENSP00000444640:T279A;ENSP00000370041:T374A	ENSP00000370041:T374A	T	-	1	0	BNC2	16427072	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.615000	0.46368	2.270000	0.75569	0.533000	0.62120	ACA		0.473	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		65	294	0	0	0	1	0	65	294				
TEF	7008	broad.mit.edu	37	22	41790200	41790200	+	Silent	SNP	C	C	T	rs201504261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41790200C>T	ENST00000266304.4	+	3	692	c.576C>T	c.(574-576)ctC>ctT	p.L192L	TEF_ENST00000406644.3_Silent_p.L162L	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	192	Pro-rich (proline/acidic region (PAR)).				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGGTGCTCTCCAGTGTGC	0.567																																						ENST00000266304.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(574-576)ctC>ctT		thyrotrophic embryonic factor							79.0	81.0	80.0					22																	41790200		2203	4300	6503	SO:0001819	synonymous_variant	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41790200C>T		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.576C>T	22.37:g.41790200C>T						TEF_ENST00000406644.3_Silent_p.L162L	p.L192L	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN			3	692	+			192			Pro-rich (proline/acidic region (PAR)).		B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Silent	SNP	ENST00000266304.4	37	c.576C>T	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325398	0.24080	.	.	ENSG00000167074	ENST00000413942	.	.	.	5.78	0.71	0.18157	.	.	.	.	.	T	0.65893	0.2735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-30.8495	13.1516	0.59492	0.0988:0.4108:0.4905:0.0	.	.	.	.	F	158	.	.	S	+	2	0	TEF	40120146	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.219000	0.17641	0.374000	0.24650	0.655000	0.94253	TCT		0.567	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		84	491	0	0	0	1	0	84	491				
MYH7B	57644	broad.mit.edu	37	20	33577604	33577604	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33577604G>T	ENST00000262873.7	+	18	1867	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	550	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCAGACGCCAGCTTCCGGGCC	0.592																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1774-1776)aGc>aTc		myosin, heavy chain 7B, cardiac muscle, beta							57.0	63.0	61.0					20																	33577604		2201	4300	6501	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577604G>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1775G>T	20.37:g.33577604G>T	ENSP00000262873:p.Ser592Ile						p.S592I	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		18	1867	+			550			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1775G>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381992	0.61845	.	.	ENSG00000078814	ENST00000262873	D	0.88431	-2.38	4.5	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.45361	D	0.000376	D	0.92935	0.7752	M	0.92026	3.265	0.37939	D	0.932263	P	0.45569	0.861	P	0.49887	0.625	D	0.95124	0.8249	10	0.87932	D	0	.	12.2402	0.54538	0.0:0.3167:0.6833:0.0	.	550	A7E2Y1	MYH7B_HUMAN	I	592	ENSP00000262873:S592I	ENSP00000262873:S592I	S	+	2	0	MYH7B	33041265	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.988000	0.56951	2.503000	0.84419	0.561000	0.74099	AGC		0.592	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		14	299	1	0	6.31663e-08	1	6.57865e-08	14	299				
MLLT1	4298	broad.mit.edu	37	19	6213743	6213743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213743G>A	ENST00000252674.7	-	10	1636	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	491					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCACCTTGTCGTAGGTGCCCT	0.667			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1471-1473)taC>taT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							85.0	81.0	82.0					19																	6213743		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213743G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1473C>T	19.37:g.6213743G>A						MLLT1_ENST00000585588.1_5'UTR	p.Y491Y	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			10	1636	-			491					Q14768	Silent	SNP	ENST00000252674.7	37	c.1473C>T	CCDS12160.1																																																																																				0.667	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		90	448	0	0	0	1	0	90	448				
KRT85	3891	broad.mit.edu	37	12	52758891	52758891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52758891G>A	ENST00000257901.3	-	2	559	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	162	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R162S(1)		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)		TCGCAGCAGCGCTGGTTCTGG	0.622																																						ENST00000257901.3																			1	Substitution - Missense(1)	p.R162S(1)	lung(1)	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.(484-486)Cgc>Tgc		keratin 85							51.0	52.0	52.0					12																	52758891		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758891G>A	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.484C>T	12.37:g.52758891G>A	ENSP00000257901:p.Arg162Cys						p.R162C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	559	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		162			Linker 1.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.484C>T	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591234	0.46214	.	.	ENSG00000135443	ENST00000257901	T	0.76186	-1.0	4.51	-1.86	0.07760	Filament (1);	2.754660	0.00855	N	0.001868	T	0.78780	0.4337	L	0.43152	1.355	0.09310	N	1	D	0.60160	0.987	P	0.58820	0.846	T	0.66705	-0.5856	10	0.87932	D	0	.	8.8268	0.35061	0.0:0.1999:0.195:0.6051	.	162	P78386	KRT85_HUMAN	C	162	ENSP00000257901:R162C	ENSP00000257901:R162C	R	-	1	0	KRT85	51045158	0.001000	0.12720	0.000000	0.03702	0.413000	0.31143	-0.345000	0.07770	-0.134000	0.11516	0.491000	0.48974	CGC		0.622	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		95	342	0	0	0	1	0	95	342				
MBD1	4152	broad.mit.edu	37	18	47806310	47806310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47806310C>T	ENST00000591416.1	-	2	484	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	18	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AAAGACTTCGCGGCGCTTCCA	0.632																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(52-54)cGc>cAc		methyl-CpG binding domain protein 1							39.0	38.0	38.0					18																	47806310		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47806310C>T	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.53G>A	18.37:g.47806310C>T	ENSP00000467017:p.Arg18His					MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H	p.R18H			Q9UIS9	MBD1_HUMAN			2	484	-			18			MBD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.53G>A	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422881	0.83559	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78	4.35	4.35	0.52113	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.48286	D	0.000200	D	0.99168	0.9712	M	0.65320	2	0.39293	D	0.964775	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.999;1.0;0.999;0.997;0.997;0.996;1.0;0.997;1.0	D	0.99880	1.1112	10	0.87932	D	0	-9.431	14.7516	0.69530	0.0:1.0:0.0:0.0	.	18;44;18;18;18;18;18;18;18;18;18	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	H	18;18;18;18;18;18;18;44;18;18;18;18;18	ENSP00000372407:R18H;ENSP00000269469:R18H;ENSP00000342531:R18H;ENSP00000269468:R18H;ENSP00000285102:R18H;ENSP00000409561:R18H;ENSP00000269471:R18H;ENSP00000408846:R44H;ENSP00000339546:R18H;ENSP00000381508:R18H;ENSP00000405268:R18H;ENSP00000381506:R18H;ENSP00000381502:R18H	ENSP00000269468:R18H	R	-	2	0	MBD1	46060308	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.952000	0.56691	2.143000	0.66587	0.467000	0.42956	CGC		0.632	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		44	237	0	0	0	1	0	44	237				
FAM131B	9715	broad.mit.edu	37	7	143053714	143053714	+	Missense_Mutation	SNP	G	G	A	rs534174916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143053714G>A	ENST00000409408.1	-	6	2636	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W|FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	310										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GACACCTTCCGGCTGAGAGCG	0.582																																						ENST00000409408.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(928-930)Cgg>Tgg		family with sequence similarity 131, member B							172.0	152.0	159.0					7																	143053714		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143053714G>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.928C>T	7.37:g.143053714G>A	ENSP00000387017:p.Arg310Trp					FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W|FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W|FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W	p.R310W			Q86XD5	F131B_HUMAN			6	2636	-	Melanoma(164;0.205)		310					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.928C>T	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960051	0.74016	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.81	2.9	0.33743	.	0.131595	0.52532	D	0.000072	T	0.60418	0.2267	M	0.61703	1.905	0.48830	D	0.999715	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.65681	-0.6109	10	0.87932	D	0	-22.6696	15.1848	0.72993	0.0:0.0:0.6325:0.3675	.	326;310	Q86XD5-2;Q86XD5	.;F131B_HUMAN	W	338;326;310;314;310;310	ENSP00000410603:R338W;ENSP00000386568:R326W;ENSP00000386984:R310W;ENSP00000387017:R310W;ENSP00000387147:R310W	ENSP00000387147:R310W	R	-	1	2	FAM131B	142763836	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.229000	0.51278	0.775000	0.33450	-0.169000	0.13324	CGG		0.582	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		80	925	0	0	0	1	0	80	925				
SFXN1	94081	broad.mit.edu	37	5	174937166	174937166	+	Silent	SNP	C	C	T	rs146805862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174937166C>T	ENST00000321442.5	+	4	644	c.390C>T	c.(388-390)gtC>gtT	p.V130V	SFXN1_ENST00000502393.1_Silent_p.V130V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	130					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAATGCCGTCGTCAATTACA	0.502																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(388-390)gtC>gtT		sideroflexin 1		C		1,4405	2.1+/-5.4	0,1,2202	162.0	121.0	135.0		390	-1.5	0.3	5	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	SFXN1	NM_022754.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		130/323	174937166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174937166C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.390C>T	5.37:g.174937166C>T						SFXN1_ENST00000502393.1_Silent_p.V130V	p.V130V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	644	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	130					B3KPW3|D3DQN2|Q9HA53	Silent	SNP	ENST00000321442.5	37	c.390C>T	CCDS4394.1																																																																																				0.502	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		30	81	0	0	0	1	0	30	81				
MMP15	4324	broad.mit.edu	37	16	58079274	58079274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079274C>T	ENST00000219271.3	+	10	2719	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	645					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CTCACCTACGCGCTGGTGCAG	0.652																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1933-1935)gCg>gTg		matrix metallopeptidase 15 (membrane-inserted)							118.0	120.0	119.0					16																	58079274		2197	4298	6495	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58079274C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1934C>T	16.37:g.58079274C>T	ENSP00000219271:p.Ala645Val						p.A645V	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			10	2719	+			645					A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1934C>T	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840009	0.16891	.	.	ENSG00000102996	ENST00000219271	T	0.32023	1.47	4.65	1.37	0.22104	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.354298	0.31936	N	0.006838	T	0.10937	0.0267	N	0.03209	-0.39	0.40827	D	0.983555	B	0.28470	0.213	B	0.31495	0.131	T	0.09509	-1.0671	10	0.26408	T	0.33	.	3.1214	0.06392	0.0:0.4653:0.219:0.3157	.	645	P51511	MMP15_HUMAN	V	645	ENSP00000219271:A645V	ENSP00000219271:A645V	A	+	2	0	MMP15	56636775	0.652000	0.27349	0.042000	0.18584	0.046000	0.14306	1.282000	0.33226	0.565000	0.29255	0.555000	0.69702	GCG		0.652	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		16	45	0	0	0	1	0	16	45				
LRRC42	115353	broad.mit.edu	37	1	54418090	54418090	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54418090A>C	ENST00000371370.3	+	3	939	c.418A>C	c.(418-420)Aaa>Caa	p.K140Q	LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	140										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GGCTTTACAGAAATTCACTGA	0.463																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(418-420)Aaa>Caa		leucine rich repeat containing 42							65.0	65.0	65.0					1																	54418090		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54418090A>C	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.418A>C	1.37:g.54418090A>C	ENSP00000360421:p.Lys140Gln					LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	p.K140Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			3	939	+			140					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.418A>C	CCDS585.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190926	0.58017	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.52	5.52	0.82312	.	0.113302	0.64402	D	0.000017	T	0.61502	0.2352	N	0.24115	0.695	0.38195	D	0.940032	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.74674	0.943;0.984;0.879	T	0.59343	-0.7472	9	0.15952	T	0.53	-17.9803	15.9419	0.79763	1.0:0.0:0.0:0.0	.	140;140;140	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	Q	140	.	ENSP00000318185:K140Q	K	+	1	0	LRRC42	54190678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.195000	0.51013	2.235000	0.73313	0.459000	0.35465	AAA		0.463	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		25	236	0	0	0	1	0	25	236				
MROH7	374977	broad.mit.edu	37	1	55136215	55136215	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55136215C>T	ENST00000421030.2	+	6	1720	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	MROH7_ENST00000395690.2_Missense_Mutation_p.R479C|MROH7_ENST00000545244.1_Missense_Mutation_p.R47C|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R479C|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.R479C|MROH7_ENST00000409996.1_Missense_Mutation_p.R47C	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	479						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AAGCTCCGTCCGCAAGCAGGC	0.632																																						ENST00000414150.2																			0											c.(1435-1437)Cgc>Tgc		maestro heat-like repeat family member 7							41.0	47.0	45.0					1																	55136215		2066	4180	6246	SO:0001583	missense	374977							g.chr1:55136215C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1435C>T	1.37:g.55136215C>T	ENSP00000396622:p.Arg479Cys					MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000409996.1_Missense_Mutation_p.R47C|MROH7_ENST00000339553.5_Missense_Mutation_p.R479C|MROH7_ENST00000421030.2_Missense_Mutation_p.R479C|MROH7_ENST00000545244.1_Missense_Mutation_p.R47C|MROH7_ENST00000395690.2_Missense_Mutation_p.R479C	p.R479C							6	1713	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1435C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317774	0.60524	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000395690	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	4.81	3.89	0.44902	Armadillo-like helical (1);	0.298550	0.24037	N	0.042128	T	0.69771	0.3148	M	0.78049	2.395	0.21604	N	0.999622	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.60444	-0.7262	10	0.87932	D	0	-14.4809	10.1245	0.42641	0.0:0.9015:0.0:0.0985	.	479;479;47	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	C	479;47;504;479;47;479	ENSP00000396622:R479C;ENSP00000442333:R47C;ENSP00000343211:R479C;ENSP00000387048:R47C;ENSP00000379044:R479C	ENSP00000343211:R479C	R	+	1	0	HEATR8	54908803	0.056000	0.20664	0.360000	0.25837	0.914000	0.54420	2.084000	0.41625	2.215000	0.71742	0.456000	0.33151	CGC		0.632	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		17	97	0	0	0	1	0	17	97				
PARP10	84875	broad.mit.edu	37	8	145057668	145057668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145057668C>A	ENST00000313028.7	-	8	2183	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Nonsense_Mutation_p.E688*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	697	Glu-rich.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGGGCTCTTCTGCCTCC	0.667																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2089-2091)Gag>Tag		poly (ADP-ribose) polymerase family, member 10							12.0	13.0	13.0					8																	145057668		2198	4295	6493	SO:0001587	stop_gained	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057668C>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2089G>T	8.37:g.145057668C>A	ENSP00000325618:p.Glu697*					PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*|PARP10_ENST00000524918.1_Nonsense_Mutation_p.E688*	p.E697*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	2183	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		697			Glu-rich.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Nonsense_Mutation	SNP	ENST00000313028.7	37	c.2089G>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675280	0.67928	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	.	.	.	4.04	2.14	0.27477	.	0.750699	0.11574	N	0.550478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.8845	0.13696	0.0:0.6573:0.2226:0.1201	.	.	.	.	X	688;403;697;709	.	ENSP00000325618:E697X	E	-	1	0	PARP10	145129656	0.003000	0.15002	0.002000	0.10522	0.023000	0.10783	0.905000	0.28504	1.011000	0.39340	0.639000	0.83563	GAG		0.667	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		19	60	1	0	1.45105e-14	1	1.57787e-14	19	60				
COPB1	1315	broad.mit.edu	37	11	14504589	14504589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14504589G>A	ENST00000249923.3	-	8	1246	c.946C>T	c.(946-948)Cga>Tga	p.R316*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	316					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGTAGTACTCGTTCATGAGCA	0.333																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(946-948)Cga>Tga		coatomer protein complex, subunit beta 1							80.0	76.0	77.0					11																	14504589		2199	4294	6493	SO:0001587	stop_gained	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14504589G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.946C>T	11.37:g.14504589G>A	ENSP00000249923:p.Arg316*					COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	p.R316*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			8	1246	-			316					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Nonsense_Mutation	SNP	ENST00000249923.3	37	c.946C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	38	7.098576	0.98063	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	.	.	.	5.56	2.38	0.29361	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3051	0.66380	0.0:0.0:0.5008:0.4992	.	.	.	.	X	316	.	ENSP00000249923:R316X	R	-	1	2	COPB1	14461165	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	3.868000	0.56055	0.649000	0.30751	0.591000	0.81541	CGA		0.333	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		31	168	0	0	0	1	0	31	168				
GALNT9	50614	broad.mit.edu	37	12	132681759	132681759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132681759C>T	ENST00000328957.8	-	11	1704	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	569	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ATCTCCACCTCCAGGCAGCGG	0.622																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1705-1707)Gag>Aag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)							54.0	64.0	60.0					12																	132681759		2070	4212	6282	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132681759C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1705G>A	12.37:g.132681759C>T	ENSP00000329846:p.Glu569Lys					GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	p.E569K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	11	1704	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	569			Ricin B-type lectin.		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1705G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	34|34	5.330857|5.330857	0.95733|0.95733	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	4.45|4.45	4.45|4.45	0.53987|0.53987	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77329|0.77329	0.4114|0.4114	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	T|T	0.79964|0.79964	-0.1581|-0.1581	10|5	0.42905|.	T|.	0.14|.	.|.	17.0974|17.0974	0.86639|0.86639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320;569;426|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	K|E	203;569;320;203|341	ENSP00000380488:E203K;ENSP00000329846:E569K;ENSP00000439745:E320K;ENSP00000440544:E203K|.	ENSP00000329846:E569K|.	E|G	-|-	1|2	0|0	GALNT9|GALNT9	131247712|131247712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.545000|7.545000	0.82128|0.82128	1.997000|1.997000	0.58415|0.58415	0.457000|0.457000	0.33378|0.33378	GAG|GGA		0.622	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		55	281	0	0	0	1	0	55	281				
L3MBTL4	91133	broad.mit.edu	37	18	5969448	5969448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5969448G>A	ENST00000284898.6	-	18	1785	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	529					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACGCCTGGAAGCAACTTGCAG	0.647																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000284898.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1585-1587)Ctt>Ttt		l(3)mbt-like 4 (Drosophila)							56.0	65.0	62.0					18																	5969448		2130	4243	6373	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5969448G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1585C>T	18.37:g.5969448G>A	ENSP00000284898:p.Leu529Phe					L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F	p.L529F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN			18	1785	-		Colorectal(10;0.0249)	529					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1585C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565267	0.86439	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.19394	2.15;2.15;2.15;2.16	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000019	T	0.47248	0.1435	M	0.76170	2.325	0.46954	D	0.99926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43065	-0.9414	10	0.59425	D	0.04	.	14.9777	0.71286	0.0:0.0:1.0:0.0	.	529;520	Q8NA19;F8W9S8	LMBL4_HUMAN;.	F	529;520;529;333	ENSP00000382976:L529F;ENSP00000318543:L520F;ENSP00000284898:L529F;ENSP00000444774:L333F	ENSP00000284898:L529F	L	-	1	0	L3MBTL4	5959448	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	6.371000	0.73119	2.586000	0.87340	0.655000	0.94253	CTT		0.647	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		43	400	0	0	0	1	0	43	400				
RABGAP1L	9910	broad.mit.edu	37	1	174241551	174241551	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174241551G>A	ENST00000251507.4	+	8	1160		c.e8-1		RABGAP1L_ENST00000367689.3_Splice_Site|RABGAP1L_ENST00000357444.6_Splice_Site	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like											NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AATATTTTCAGATGTTTTGGA	0.348																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.e8-1		RAB GTPase activating protein 1-like							149.0	142.0	144.0					1																	174241551		2203	4297	6500	SO:0001630	splice_region_variant	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174241551G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.987-1G>A	1.37:g.174241551G>A						RABGAP1L_ENST00000367689.3_Splice_Site|RABGAP1L_ENST00000357444.6_Splice_Site		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			8	1160	+								B7ZAA4	Splice_Site	SNP	ENST00000251507.4	37		CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092449	0.94149	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1L	172508174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.904000	0.92590	2.700000	0.92200	0.563000	0.77884	.		0.348	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	Intron	82	407	0	0	0	1	0	82	407				
DCPS	28960	broad.mit.edu	37	11	126215338	126215338	+	Missense_Mutation	SNP	G	G	A	rs527294427|rs35029167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215338G>A	ENST00000263579.4	+	6	1173	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	282					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GCACTTCACCGCCCTGGGCTT	0.632																																						ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(844-846)Gcc>Acc		decapping enzyme, scavenger							158.0	112.0	127.0					11																	126215338		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126215338G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.844G>A	11.37:g.126215338G>A	ENSP00000263579:p.Ala282Thr					DCPS_ENST00000530860.1_3'UTR	p.A282T	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	6	1173	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	282					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.844G>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637183	0.67130	.	.	ENSG00000110063	ENST00000263579	D	0.95821	-3.82	5.16	5.16	0.70880	Histidine triad, conserved site (1);Histidine triad-like motif (1);	0.367893	0.30969	N	0.008519	D	0.95201	0.8444	L	0.43152	1.355	0.43122	D	0.994846	D	0.64830	0.994	P	0.53954	0.738	D	0.93806	0.7105	10	0.23302	T	0.38	-15.2573	18.7289	0.91726	0.0:0.0:1.0:0.0	.	282	Q96C86	DCPS_HUMAN	T	282	ENSP00000263579:A282T	ENSP00000263579:A282T	A	+	1	0	DCPS	125720548	0.997000	0.39634	0.997000	0.53966	0.787000	0.44495	4.946000	0.63576	2.421000	0.82119	0.555000	0.69702	GCC		0.632	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		121	555	0	0	0	1	0	121	555				
KRT12	3859	broad.mit.edu	37	17	39022953	39022953	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39022953T>A	ENST00000251643.4	-	1	509	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	162	Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TTCCTCGTGTTTCATACCATT	0.403																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(484-486)gaA>gaT		keratin 12							126.0	126.0	126.0					17																	39022953		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39022953T>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.486A>T	17.37:g.39022953T>A	ENSP00000251643:p.Glu162Asp						p.E162D	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			1	509	-		Breast(137;0.000301)	162			Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.486A>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931852	0.52866	.	.	ENSG00000187242	ENST00000251643	D	0.89746	-2.56	5.91	4.83	0.62350	Filament (1);	0.000000	0.52532	D	0.000069	D	0.82815	0.5119	L	0.38175	1.15	0.37705	D	0.924361	P	0.36974	0.576	B	0.37239	0.244	T	0.82236	-0.0557	10	0.45353	T	0.12	.	8.9766	0.35939	0.0:0.2028:0.0:0.7972	.	162	Q99456	K1C12_HUMAN	D	162	ENSP00000251643:E162D	ENSP00000251643:E162D	E	-	3	2	KRT12	36276479	0.024000	0.19004	0.764000	0.31436	0.882000	0.50991	0.610000	0.24253	1.054000	0.40438	-0.274000	0.10170	GAA		0.403	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		150	630	0	0	0	1	0	150	630				
SLCO5A1	81796	broad.mit.edu	37	8	70617395	70617395	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70617395A>C	ENST00000260126.4	-	6	2199	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	498						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGGCACCAAGTTTCAATTT	0.398																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1492-1494)cTt>cGt		solute carrier organic anion transporter family, member 5A1							89.0	89.0	89.0					8																	70617395		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70617395A>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1493T>G	8.37:g.70617395A>C	ENSP00000260126:p.Leu498Arg					SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R	p.L498R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2199	-	Breast(64;0.0654)		498					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1493T>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611302	0.87258	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.48522	0.81;0.81;0.81	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.83275	0.996;0.993;0.98;0.975	T	0.79999	-0.1566	10	0.59425	D	0.04	.	15.9962	0.80250	1.0:0.0:0.0:0.0	.	443;443;498;498	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	R	498;498;443	ENSP00000260126:L498R;ENSP00000434422:L498R;ENSP00000431611:L443R	ENSP00000260126:L498R	L	-	2	0	SLCO5A1	70779949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.253000	0.95501	2.234000	0.73211	0.533000	0.62120	CTT		0.398	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		74	321	0	0	0	1	0	74	321				
TRMT61B	55006	broad.mit.edu	37	2	29092543	29092543	+	Missense_Mutation	SNP	G	G	T	rs200742289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092543G>T	ENST00000306108.5	-	1	624	c.601C>A	c.(601-603)Ctg>Atg	p.L201M		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	201					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GAACTCCTCAGTATCTGGCCG	0.468																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(601-603)Ctg>Atg		tRNA methyltransferase 61 homolog B (S. cerevisiae)							124.0	132.0	130.0					2																	29092543		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092543G>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.601C>A	2.37:g.29092543G>T	ENSP00000302801:p.Leu201Met						p.L201M	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	624	-			201					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.601C>A	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277361	0.59758	.	.	ENSG00000171103	ENST00000306108	T	0.27402	1.67	5.5	2.6	0.31112	.	0.482216	0.18300	N	0.145454	T	0.44008	0.1273	L	0.54323	1.7	0.09310	N	1	P;D	0.65815	0.809;0.995	P;D	0.64595	0.66;0.927	T	0.11012	-1.0605	10	0.54805	T	0.06	1.1401	8.9325	0.35680	0.1226:0.128:0.7494:0.0	.	201;201	F8WDR2;Q9BVS5	.;TR61B_HUMAN	M	201	ENSP00000302801:L201M	ENSP00000302801:L201M	L	-	1	2	TRMT61B	28946047	0.000000	0.05858	0.004000	0.12327	0.905000	0.53344	0.067000	0.14510	1.259000	0.44117	0.561000	0.74099	CTG		0.468	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		132	744	1	0	2.13359e-52	1	2.6535e-52	132	744				
SULF1	23213	broad.mit.edu	37	8	70533385	70533385	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70533385A>C	ENST00000260128.4	+	14	2210	c.1493A>C	c.(1492-1494)cAt>cCt	p.H498P	SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000419716.3_Missense_Mutation_p.H498P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	498					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGCGGCTTCCATGACAAAGAC	0.527																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1492-1494)cAt>cCt		sulfatase 1							72.0	71.0	71.0					8																	70533385		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70533385A>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1493A>C	8.37:g.70533385A>C	ENSP00000260128:p.His498Pro					SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P|SULF1_ENST00000419716.3_Missense_Mutation_p.H498P|SULF1_ENST00000521946.1_3'UTR	p.H498P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		14	2210	+	Breast(64;0.0654)		498					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1493A>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	7.434	0.639363	0.14386	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.95	0.437	0.16555	Alkaline-phosphatase-like, core domain (1);	0.503729	0.24341	N	0.039369	D	0.93864	0.8037	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87386	0.2360	10	0.25751	T	0.34	.	5.2695	0.15617	0.4829:0.263:0.2542:0.0	.	498	Q8IWU6	SULF1_HUMAN	P	498	ENSP00000403040:H498P;ENSP00000260128:H498P;ENSP00000385704:H498P;ENSP00000390315:H498P	ENSP00000260128:H498P	H	+	2	0	SULF1	70695939	0.001000	0.12720	0.733000	0.30861	0.473000	0.32948	0.257000	0.18369	0.478000	0.27488	0.533000	0.62120	CAT		0.527	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		51	233	0	0	0	1	0	51	233				
LRRC8C	84230	broad.mit.edu	37	1	90178779	90178779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90178779C>A	ENST00000370454.4	+	3	905	c.650C>A	c.(649-651)cCt>cAt	p.P217H	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	217					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAGTCCATTCCTGAGAAGTTT	0.453																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(649-651)cCt>cAt		leucine rich repeat containing 8 family, member C							56.0	61.0	59.0					1																	90178779		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178779C>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.650C>A	1.37:g.90178779C>A	ENSP00000359483:p.Pro217His					LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.P217H	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	905	+		all_lung(203;0.126)	217					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.650C>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234785	0.58886	.	.	ENSG00000171488	ENST00000370454	T	0.24538	1.85	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.59436	1.845	0.80722	D	1	D	0.55800	0.973	P	0.54924	0.764	T	0.01256	-1.1404	10	0.46703	T	0.11	.	20.3501	0.98811	0.0:1.0:0.0:0.0	.	217	Q8TDW0	LRC8C_HUMAN	H	217	ENSP00000359483:P217H	ENSP00000359483:P217H	P	+	2	0	LRRC8C	89951367	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	6.086000	0.71352	2.807000	0.96579	0.650000	0.86243	CCT		0.453	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		35	273	1	0	1.836e-18	1	2.03801e-18	35	273				
ABCA9	10350	broad.mit.edu	37	17	66987055	66987055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66987055G>A	ENST00000340001.4	-	29	3971	c.3760C>T	c.(3760-3762)Cct>Tct	p.P1254S	ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1254					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTCCTTCAGGCTCTTCTGGG	0.388																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3760-3762)Cct>Tct		ATP-binding cassette, sub-family A (ABC1), member 9							173.0	147.0	156.0					17																	66987055		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66987055G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3760C>T	17.37:g.66987055G>A	ENSP00000342216:p.Pro1254Ser					ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S	p.P1254S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			29	3971	-	Breast(10;1.47e-12)		1254					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3760C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139931	0.37728	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.88124	-2.19;-2.34	5.4	5.4	0.78164	.	0.000000	0.47093	D	0.000250	D	0.91164	0.7217	M	0.64170	1.965	0.20074	N	0.999939	D;P	0.60160	0.987;0.529	P;B	0.58660	0.843;0.285	D	0.85458	0.1165	10	0.51188	T	0.08	.	17.7247	0.88362	0.0:0.0:1.0:0.0	.	1254;1254	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1254;1199;1254	ENSP00000342216:P1254S;ENSP00000359767:P1254S	ENSP00000342216:P1254S	P	-	1	0	ABCA9	64498650	0.390000	0.25213	0.465000	0.27155	0.137000	0.21094	1.762000	0.38451	2.541000	0.85698	0.655000	0.94253	CCT		0.388	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		58	271	0	0	0	1	0	58	271				
LRPPRC	10128	broad.mit.edu	37	2	44132886	44132886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44132886G>A	ENST00000260665.7	-	31	3366	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1103					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGCAGCATCGTTCAGTGTGA	0.443																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3307-3309)aaC>aaT		leucine-rich pentatricopeptide repeat containing							139.0	117.0	125.0					2																	44132886		2203	4300	6503	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44132886G>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3309C>T	2.37:g.44132886G>A							p.N1103N	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			31	3366	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1103					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.3309C>T	CCDS33189.1																																																																																				0.443	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		112	221	0	0	0	1	0	112	221				
ZNF718	255403	broad.mit.edu	37	4	155444	155444	+	lincRNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155444C>A	ENST00000510175.1	+	0	879							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TTACCACATCCTCAGACTTTG	0.398																																						ENST00000510175.1																			0													zinc finger protein 718							26.0	29.0	28.0					4																	155444		2117	4260	6377			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155444C>A	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155444C>A										Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	0	879	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)						Q3SXZ4|Q3SXZ5	RNA	SNP	ENST00000510175.1	37																																																																																						0.398	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		22	88	1	0	3.10358e-05	1	3.17146e-05	22	88				
SH3RF3	344558	broad.mit.edu	37	2	110065683	110065683	+	Missense_Mutation	SNP	G	G	A	rs199983346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110065683G>A	ENST00000309415.6	+	8	1886	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	629							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCACCCCTGCGCACCCAGAAC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		13955	0.0		0.001	False		,,,				2504	0.0					ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1885-1887)cGc>cAc		SH3 domain containing ring finger 3		G	HIS/ARG	2,4320		0,2,2159	21.0	29.0	27.0		1886	5.2	1.0	2		27	0,8500		0,0,4250	yes	missense	SH3RF3	NM_001099289.1	29	0,2,6409	AA,AG,GG		0.0,0.0463,0.0156	probably-damaging	629/883	110065683	2,12820	2161	4250	6411	SO:0001583	missense	344558						zinc ion binding	g.chr2:110065683G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1886G>A	2.37:g.110065683G>A	ENSP00000309186:p.Arg629His						p.R629H	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			8	1886	+			629					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1886G>A		.	.	.	.	.	.	.	.	.	.	G	18.14	3.557727	0.65425	4.63E-4	0.0	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.58940	0.3;2.08	5.15	5.15	0.70609	.	0.053596	0.85682	D	0.000000	T	0.67795	0.2931	.	.	.	0.54753	D	0.999989	D	0.69078	0.997	P	0.56088	0.791	T	0.64011	-0.6507	9	0.30078	T	0.28	-29.9474	18.8174	0.92081	0.0:0.0:1.0:0.0	.	629	Q8TEJ3	SH3R3_HUMAN	H	629	ENSP00000414997:R629H;ENSP00000309186:R629H	ENSP00000309186:R629H	R	+	2	0	SH3RF3	109432115	1.000000	0.71417	0.970000	0.41538	0.027000	0.11550	6.664000	0.74437	2.680000	0.91292	0.655000	0.94253	CGC		0.662	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		12	131	0	0	0	1	0	12	131				
TCEB3	6924	broad.mit.edu	37	1	24076437	24076437	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24076437C>T	ENST00000418390.2	+	3	587	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TCEB3_ENST00000609199.1_Splice_Site_p.R80*|TCEB3_ENST00000487554.1_3'UTR	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	106					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCCTGTGGAACGGTAAGAACA	0.393																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.e3+1		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							81.0	83.0	82.0					1																	24076437		2203	4300	6503	SO:0001630	splice_region_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24076437C>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.317+1C>T	1.37:g.24076437C>T						TCEB3_ENST00000487554.1_3'UTR	p.R106_splice	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	587	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	106					B2R7Q8|Q8IXH1	Splice_Site	SNP	ENST00000418390.2	37	c.317_splice	CCDS239.2	.	.	.	.	.	.	.	.	.	.	C	38	6.847530	0.97881	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.92	3.89	0.44902	.	0.278788	0.27424	N	0.019427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6452	13.8483	0.63481	0.3956:0.6044:0.0:0.0	.	.	.	.	X	106	.	ENSP00000395574:R106X	R	+	1	2	TCEB3	23949024	0.767000	0.28508	1.000000	0.80357	0.995000	0.86356	0.433000	0.21477	1.480000	0.48289	0.650000	0.86243	CGA		0.393	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	Nonsense_Mutation	15	117	0	0	0	1	0	15	117				
MYO10	4651	broad.mit.edu	37	5	16689992	16689992	+	Silent	SNP	G	G	A	rs371384622	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16689992G>A	ENST00000513610.1	-	28	4291	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	MYO10_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000274203.9_Silent_p.I636I|MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000505695.1_Silent_p.I618I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1279	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TAATGATGTCGATCCCATTCT	0.463																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3835-3837)atC>atT		myosin X							186.0	180.0	182.0					5																	16689992		2070	4210	6280	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16689992G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3837C>T	5.37:g.16689992G>A						MYO10_ENST00000505695.1_Silent_p.I618I|MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000274203.9_Silent_p.I636I	p.I1279I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			28	4291	-			1279			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3837C>T	CCDS54834.1																																																																																				0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		32	180	0	0	0	1	0	32	180				
RPL10L	140801	broad.mit.edu	37	14	47120892	47120892	+	Silent	SNP	C	C	T	rs368319202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120892C>T	ENST00000298283.3	-	1	136	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	16					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATTTTGGGTACGGCTTGTTCT	0.537																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(46-48)ccG>ccA		ribosomal protein L10-like		C		3,4403	6.2+/-15.9	0,3,2200	90.0	95.0	93.0		48	-8.6	0.0	14		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RPL10L	NM_080746.2		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		16/215	47120892	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120892C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.48G>A	14.37:g.47120892C>T							p.P16P	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	136	-			16					Q8IUD1	Silent	SNP	ENST00000298283.3	37	c.48G>A	CCDS32071.1																																																																																				0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			113	499	0	0	0	1	0	113	499				
SLC45A1	50651	broad.mit.edu	37	1	8390438	8390438	+	Silent	SNP	G	G	A	rs547186750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390438G>A	ENST00000471889.1	+	5	1270	c.885G>A	c.(883-885)ccG>ccA	p.P295P	SLC45A1_ENST00000289877.8_Silent_p.P295P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.P329P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	295					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGCGGCCGCCGAGTGAGA	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11505	0.0		0.0	False		,,,				2504	0.0					ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(883-885)ccG>ccA		solute carrier family 45, member 1							20.0	23.0	22.0					1																	8390438		2190	4280	6470	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390438G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.885G>A	1.37:g.8390438G>A						SLC45A1_ENST00000289877.8_Silent_p.P295P|SLC45A1_ENST00000377479.2_Silent_p.P329P	p.P295P			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1270	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	295					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.885G>A	CCDS30577.1																																																																																				0.692	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			10	250	0	0	0	1	0	10	250				
KCTD19	146212	broad.mit.edu	37	16	67333397	67333397	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67333397C>T	ENST00000304372.5	-	6	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	285					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTGTGTAGAGCGGTTTCACGG	0.632																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(853-855)ccG>ccA		potassium channel tetramerization domain containing 19							93.0	103.0	100.0					16																	67333397		2000	4157	6157	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333397C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.855G>A	16.37:g.67333397C>T						KCTD19_ENST00000562860.1_5'UTR	p.P285P	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	910	-		Ovarian(137;0.192)	285					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.855G>A	CCDS42179.1																																																																																				0.632	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		120	675	0	0	0	1	0	120	675				
RP11-467N20.5	0	broad.mit.edu	37	15	23410635	23410635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23410635G>A	ENST00000558241.1	-	5	644	c.554C>T	c.(553-555)gCg>gTg	p.A185V																	endometrium(1)	1						CACCCTATCCGCCTTCTTCTT	0.567																																						ENST00000558241.1																			0				endometrium(1)	1						c.(553-555)gCg>gTg																																						SO:0001583	missense	0							g.chr15:23410635G>A																												ENST00000558241.1:c.554C>T	15.37:g.23410635G>A	ENSP00000453436:p.Ala185Val						p.A185V							5	644	-									Missense_Mutation	SNP	ENST00000558241.1	37	c.554C>T																																																																																					0.567	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000415942.1			16	23	0	0	0	1	0	16	23				
ZNF525	170958	broad.mit.edu	37	19	53884416	53884416	+	5'Flank	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53884416A>C	ENST00000355326.3	+	0	0				ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000467003.1_Missense_Mutation_p.N159T|ZNF525_ENST00000474037.1_Missense_Mutation_p.N195T			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						TATGGGGATAATTTTCTGAAT	0.368																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(475-477)aAt>aCt		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884416A>C	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884416A>C	Exception_encountered					ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.N195T|ZNF525_ENST00000475179.1_Intron	p.N159T							4	677	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.476A>C		.	.	.	.	.	.	.	.	.	.	A	9.561	1.118537	0.20877	.	.	ENSG00000203326	ENST00000474037;ENST00000467003	T;T	0.26373	1.74;1.74	1.53	-3.06	0.05379	.	.	.	.	.	T	0.06554	0.0168	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31138	-0.9954	6	0.02654	T	1	.	2.8363	0.05516	0.4552:0.0:0.2908:0.254	.	.	.	.	T	195;159	ENSP00000417696:N195T;ENSP00000419136:N159T	ENSP00000419136:N159T	N	+	2	0	ZNF525	58576228	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.725000	0.01863	-0.977000	0.03537	0.248000	0.18094	AAT		0.368	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		27	505	0	0	0	1	0	27	505				
PTPN23	25930	broad.mit.edu	37	3	47452754	47452754	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47452754G>T	ENST00000265562.4	+	20	3543	c.3466G>T	c.(3466-3468)Gcc>Tcc	p.A1156S	PTPN23_ENST00000431726.1_Missense_Mutation_p.A1030S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1156					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCGGCCGCAGGCCCTGCGGCT	0.687																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(3466-3468)Gcc>Tcc		protein tyrosine phosphatase, non-receptor type 23							17.0	20.0	19.0					3																	47452754		2200	4295	6495	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452754G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3466G>T	3.37:g.47452754G>T	ENSP00000265562:p.Ala1156Ser					PTPN23_ENST00000431726.1_Missense_Mutation_p.A1030S	p.A1156S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	3543	+			1156					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.3466G>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958074	0.53400	.	.	ENSG00000076201	ENST00000265562	T	0.02682	4.2	4.78	4.78	0.61160	.	0.067857	0.64402	D	0.000018	T	0.03739	0.0106	N	0.24115	0.695	0.45607	D	0.998543	P;P	0.46987	0.888;0.888	P;P	0.44561	0.453;0.453	T	0.60566	-0.7238	10	0.40728	T	0.16	-18.1626	16.7279	0.85428	0.0:0.0:1.0:0.0	.	1030;1156	B4DST5;Q9H3S7	.;PTN23_HUMAN	S	1156	ENSP00000265562:A1156S	ENSP00000265562:A1156S	A	+	1	0	PTPN23	47427758	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	6.895000	0.75660	2.468000	0.83385	0.563000	0.77884	GCC		0.687	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		7	169	1	0	0.00198382	1	0.00200138	7	169				
PTPRC	5788	broad.mit.edu	37	1	198687417	198687417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198687417G>A	ENST00000367376.2	+	14	1810	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	547	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATATTCAACAGACTACACTTT	0.328																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(1639-1641)Gac>Aac		protein tyrosine phosphatase, receptor type, C							52.0	50.0	51.0					1																	198687417		2202	4300	6502	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198687417G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1639G>A	1.37:g.198687417G>A	ENSP00000356346:p.Asp547Asn					PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N	p.D547N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			14	1810	+			547			Fibronectin type-III 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1639G>A		.	.	.	.	.	.	.	.	.	.	g	0.270	-0.993669	0.02145	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.56103	0.48	4.52	-9.04	0.00734	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.959790	0.02323	N	0.073205	T	0.23492	0.0568	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.14023	0.005;0.01;0.002;0.002;0.002	T	0.18085	-1.0348	10	0.21540	T	0.41	.	4.5056	0.11885	0.5134:0.169:0.2316:0.086	.	483;483;388;499;547	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	N	549;483;499;499;433;547;481;386	ENSP00000193532:D499N	ENSP00000306782:D386N	D	+	1	0	PTPRC	196954040	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.417000	0.02464	-3.012000	0.00272	-4.551000	0.00004	GAC		0.328	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				25	95	0	0	0	1	0	25	95				
RYR2	6262	broad.mit.edu	37	1	237729908	237729908	+	Silent	SNP	C	C	A	rs371303783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237729908C>A	ENST00000366574.2	+	28	3573	c.3256C>A	c.(3256-3258)Cga>Aga	p.R1086R	RYR2_ENST00000360064.6_Silent_p.R1084R|RYR2_ENST00000542537.1_Silent_p.R1070R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1086	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAAGGTTCCGAATCTTCCG	0.542																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3256-3258)Cga>Aga		ryanodine receptor 2 (cardiac)							76.0	77.0	77.0					1																	237729908		1909	4134	6043	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729908C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3256C>A	1.37:g.237729908C>A						RYR2_ENST00000360064.6_Silent_p.R1084R|RYR2_ENST00000542537.1_Silent_p.R1070R	p.R1086R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3573	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1086			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3256C>A	CCDS55691.1																																																																																				0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		98	218	1	0	3.21569e-47	1	3.95668e-47	98	218				
PXDN	7837	broad.mit.edu	37	2	1680761	1680761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1680761G>A	ENST00000252804.4	-	8	836	c.786C>T	c.(784-786)acC>acT	p.T262T	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	262	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAAGTACACGGTGTTCCCCG	0.547																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(784-786)acC>acT		peroxidasin homolog (Drosophila)							65.0	73.0	70.0					2																	1680761		1993	4173	6166	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1680761G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.786C>T	2.37:g.1680761G>A							p.T262T	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	8	836	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	262			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.786C>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.453|3.453	-0.111536|-0.111536	0.06881|0.06881	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|.	.|.	.|.	4.77|4.77	-9.54|-9.54	0.00572|0.00572	.|.	.|.	.|.	.|.	.|.	T|T	0.30947|0.30947	0.0781|0.0781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39418|0.39418	-0.9615|-0.9615	4|4	.|.	.|.	.|.	-26.0331|-26.0331	0.3493|0.3493	0.00346|0.00346	0.3348:0.2419:0.1617:0.2616|0.3348:0.2419:0.1617:0.2616	.|.	.|.	.|.	.|.	L|C	258|186	.|.	.|.	P|R	-|-	2|1	0|0	PXDN|PXDN	1659768|1659768	0.000000|0.000000	0.05858|0.05858	0.500000|0.500000	0.27589|0.27589	0.539000|0.539000	0.34962|0.34962	-3.664000|-3.664000	0.00399|0.00399	-2.386000|-2.386000	0.00590|0.00590	-1.553000|-1.553000	0.00894|0.00894	CCG|CGT		0.547	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		13	78	0	0	0	1	0	13	78				
DAAM1	23002	broad.mit.edu	37	14	59814285	59814285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59814285C>T	ENST00000395125.1	+	17	2157	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	712	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGAAATCAAACGGGCAATTCT	0.373																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2134-2136)Cgg>Tgg		dishevelled associated activator of morphogenesis 1							79.0	69.0	72.0					14																	59814285		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59814285C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2134C>T	14.37:g.59814285C>T	ENSP00000378557:p.Arg712Trp					DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W	p.R712W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	17	2157	+			712			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2134C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261330	0.80246	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.35236	1.32;1.32;1.32	6.06	5.16	0.70880	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.978;0.995	T	0.73799	-0.3869	10	0.72032	D	0.01	.	16.6315	0.85035	0.131:0.869:0.0:0.0	.	702;712	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	W	702;712;712;712	ENSP00000354162:R702W;ENSP00000247170:R712W;ENSP00000378557:R712W	ENSP00000247170:R712W	R	+	1	2	DAAM1	58884038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.930000	0.48924	1.523000	0.49018	0.650000	0.86243	CGG		0.373	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		21	166	0	0	0	1	0	21	166				
RTN2	6253	broad.mit.edu	37	19	45998110	45998110	+	Missense_Mutation	SNP	C	C	T	rs143302045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45998110C>T	ENST00000245923.4	-	3	468	c.233G>A	c.(232-234)cGc>cAc	p.R78H	RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000396737.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	78					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGAATCCCTGCGGCCCCCGGA	0.692																																						ENST00000245923.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(232-234)cGc>cAc		reticulon 2							17.0	22.0	21.0					19																	45998110		2202	4297	6499	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45998110C>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.233G>A	19.37:g.45998110C>T	ENSP00000245923:p.Arg78His					RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H	p.R78H	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	3	468	-		Ovarian(192;0.051)|all_neural(266;0.112)	78					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.233G>A	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054978	0.55325	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.69040	-0.34;-0.37	5.44	5.44	0.79542	.	0.276624	0.26605	N	0.023450	T	0.73877	0.3643	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.965	T	0.75855	-0.3170	10	0.66056	D	0.02	-16.8413	14.7561	0.69567	0.0:1.0:0.0:0.0	.	78;78	O75298-2;O75298	.;RTN2_HUMAN	H	78	ENSP00000345127:R78H;ENSP00000245923:R78H	ENSP00000245923:R78H	R	-	2	0	RTN2	50689950	1.000000	0.71417	0.949000	0.38748	0.058000	0.15608	2.970000	0.49240	2.561000	0.86390	0.462000	0.41574	CGC		0.692	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		67	200	0	0	0	1	0	67	200				
HOXD13	3239	broad.mit.edu	37	2	176959324	176959324	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176959324T>G	ENST00000392539.3	+	2	898	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	300					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CATTAACAAATTCATTAACAA	0.478			T	NUP98	AML*																																	ENST00000392539.3				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6						c.(898-900)Ttc>Gtc		homeobox D13							110.0	100.0	104.0					2																	176959324		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176959324T>G	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.898T>G	2.37:g.176959324T>G	ENSP00000376322:p.Phe300Val						p.F300V	NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	2	898	+			300						Missense_Mutation	SNP	ENST00000392539.3	37	c.898T>G	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384994	0.82792	.	.	ENSG00000128714	ENST00000392539	D	0.96011	-3.88	4.99	4.99	0.66335	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.97999	0.9341	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99050	1.0827	10	0.87932	D	0	.	15.1492	0.72684	0.0:0.0:0.0:1.0	.	300	P35453	HXD13_HUMAN	V	300	ENSP00000376322:F300V	ENSP00000376322:F300V	F	+	1	0	HOXD13	176667570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.825000	0.86693	2.234000	0.73211	0.533000	0.62120	TTC		0.478	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			21	277	0	0	0	1	0	21	277				
PCYT1B	9468	broad.mit.edu	37	X	24625913	24625913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24625913C>T	ENST00000379144.2	-	3	413	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T|PCYT1B_ENST00000379145.1_Missense_Mutation_p.A77T	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	95					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGCATAAGGGCTCTTGCATGA	0.423																																						ENST00000379145.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(229-231)Gcc>Acc		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)						95.0	88.0	90.0					X																	24625913		2203	4300	6503	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24625913C>T	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.283G>A	X.37:g.24625913C>T	ENSP00000368439:p.Ala95Thr					PCYT1B_ENST00000379144.2_Missense_Mutation_p.A95T|PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T	p.A77T	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN			3	273	-			95			Catalytic (Potential).		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	c.229G>A	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763920	0.89932	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96554	-4.05;-4.05;-4.05	5.19	5.19	0.71726	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.95300	0.8475	L	0.56769	1.78	0.80722	D	1	D;P;P	0.53745	0.962;0.86;0.86	B;B;B	0.43701	0.333;0.346;0.428	D	0.95264	0.8371	10	0.48119	T	0.1	-34.0451	17.8268	0.88668	0.0:1.0:0.0:0.0	.	95;77;95	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	T	77;95;95	ENSP00000368440:A77T;ENSP00000368439:A95T;ENSP00000349211:A95T	ENSP00000349211:A95T	A	-	1	0	PCYT1B	24535834	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.320000	0.79064	2.398000	0.81561	0.544000	0.68410	GCC		0.423	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		26	62	0	0	0	1	0	26	62				
FAM49A	81553	broad.mit.edu	37	2	16742781	16742781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16742781C>A	ENST00000381323.3	-	7	676	c.456G>T	c.(454-456)caG>caT	p.Q152H	FAM49A_ENST00000406434.1_Missense_Mutation_p.Q152H|FAM49A_ENST00000355549.2_Missense_Mutation_p.Q152H	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	152						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGAAGTCATTCTGAATAGCCG	0.493																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(454-456)caG>caT		family with sequence similarity 49, member A							118.0	104.0	109.0					2																	16742781		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16742781C>A	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.456G>T	2.37:g.16742781C>A	ENSP00000370724:p.Gln152His					FAM49A_ENST00000406434.1_Missense_Mutation_p.Q152H|FAM49A_ENST00000355549.2_Missense_Mutation_p.Q152H	p.Q152H	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		7	676	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		152					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.456G>T	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599284	0.87055	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.56941	0.43;0.43;0.43	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78178	-0.2305	10	0.87932	D	0	-22.0088	9.8384	0.40985	0.0:0.8495:0.0:0.1505	.	152	Q9H0Q0	FA49A_HUMAN	H	152	ENSP00000370724:Q152H;ENSP00000384771:Q152H;ENSP00000347744:Q152H	ENSP00000347744:Q152H	Q	-	3	2	FAM49A	16606262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.836000	0.39191	2.861000	0.98227	0.655000	0.94253	CAG		0.493	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		9	256	1	0	7.48243e-07	1	7.73841e-07	9	256				
TENM3	55714	broad.mit.edu	37	4	183713625	183713625	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183713625C>A	ENST00000511685.1	+	26	5923	c.5800C>A	c.(5800-5802)Ctt>Att	p.L1934I	TENM3_ENST00000406950.2_Missense_Mutation_p.L1934I			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1934					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGAAGGGCTGCTTCTACAAAC	0.478																																						ENST00000511685.1																			0											c.(5800-5802)Ctt>Att		teneurin transmembrane protein 3							63.0	64.0	64.0					4																	183713625		1945	4131	6076	SO:0001583	missense	55714							g.chr4:183713625C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5800C>A	4.37:g.183713625C>A	ENSP00000424226:p.Leu1934Ile					TENM3_ENST00000406950.2_Missense_Mutation_p.L1934I	p.L1934I							26	5923	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5800C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636474	0.14386	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.88046	-2.33;-2.33	4.74	4.74	0.60224	.	.	.	.	.	D	0.89760	0.6808	L	0.39245	1.2	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.86857	0.2027	9	0.22706	T	0.39	.	18.268	0.90057	0.0:1.0:0.0:0.0	.	1934	Q9P273	TEN3_HUMAN	I	1934	ENSP00000424226:L1934I;ENSP00000385276:L1934I	ENSP00000385276:L1934I	L	+	1	0	ODZ3	183950619	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.804000	0.69135	2.608000	0.88229	0.591000	0.81541	CTT		0.478	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			66	208	1	0	7.1157e-29	1	8.29994e-29	66	208				
WWC1	23286	broad.mit.edu	37	5	167850797	167850797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167850797G>A	ENST00000265293.4	+	11	2036	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	512					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCCAGAAGGCAGAGGGAGG	0.657																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(1534-1536)Gca>Aca		WW and C2 domain containing 1							71.0	57.0	62.0					5																	167850797		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167850797G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1534G>A	5.37:g.167850797G>A	ENSP00000265293:p.Ala512Thr					WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	p.A512T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	11	2036	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	512					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.1534G>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.707|0.707	-0.788550|-0.788550	0.02884|0.02884	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.39229|.	1.09;1.09|.	5.22|5.22	2.48|2.48	0.30137|0.30137	.|.	0.522413|.	0.20287|.	N|.	0.095337|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.04043|0.04043	-0.29|-0.29	0.20403|0.20403	N|N	0.999901|0.999901	B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001|.	B;B;B;B|.	0.12156|.	0.001;0.007;0.007;0.002|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.07990|.	T|.	0.79|.	.|.	7.9508|7.9508	0.30014|0.30014	0.4403:0.0:0.5597:0.0|0.4403:0.0:0.5597:0.0	.|.	512;418;418;512|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	T|D	512|473;288	ENSP00000265293:A512T;ENSP00000427772:A512T|.	ENSP00000265293:A512T|.	A|G	+|+	1|2	0|0	WWC1|WWC1	167783375|167783375	0.966000|0.966000	0.33281|0.33281	0.439000|0.439000	0.26833|0.26833	0.013000|0.013000	0.08279|0.08279	1.428000|1.428000	0.34892|0.34892	0.605000|0.605000	0.29947|0.29947	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.657	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		53	272	0	0	0	1	0	53	272				
CHRNA3	1136	broad.mit.edu	37	15	78893898	78893898	+	Silent	SNP	G	G	A	rs201180674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893898G>A	ENST00000326828.5	-	5	1470	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	CHRNA3_ENST00000348639.3_Silent_p.N362N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	362					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CGTTGCCCTCGTTGCTTGTTG	0.567																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1084-1086)aaC>aaT		cholinergic receptor, nicotinic, alpha 3 (neuronal)		G	,	0,4392		0,0,2196	100.0	91.0	94.0		1086,1086	-3.8	0.0	15		94	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	CHRNA3	NM_000743.4,NM_001166694.1	,	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	,	362/506,362/490	78893898	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893898G>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1086C>T	15.37:g.78893898G>A						CHRNA3_ENST00000348639.3_Silent_p.N362N	p.N362N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	1470	-			362					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	c.1086C>T	CCDS10305.1																																																																																				0.567	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			82	366	0	0	0	1	0	82	366				
ADCK1	57143	broad.mit.edu	37	14	78365490	78365490	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78365490G>A	ENST00000238561.5	+	6	729	c.630G>A	c.(628-630)atG>atA	p.M210I	ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	217	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTGAGTTTATGTGGCTTGTGG	0.502																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(628-630)atG>atA		aarF domain containing kinase 1							179.0	155.0	163.0					14																	78365490		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78365490G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.630G>A	14.37:g.78365490G>A	ENSP00000238561:p.Met210Ile					ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	p.M210I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	6	729	+			217			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.630G>A	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553053	0.45487	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.54071	0.59;0.59;0.59	5.53	3.64	0.41730	.	0.118251	0.85682	N	0.000000	T	0.40791	0.1131	L	0.31294	0.92	0.80722	D	1	B;B	0.23806	0.091;0.05	B;B	0.29663	0.105;0.037	T	0.27773	-1.0064	10	0.36615	T	0.2	-51.955	10.9727	0.47448	0.0702:0.13:0.7999:0.0	.	142;210	Q9UIE6;Q86TW2-2	.;.	I	210;210;142	ENSP00000238561:M210I;ENSP00000451549:M210I;ENSP00000339663:M142I	ENSP00000238561:M210I	M	+	3	0	ADCK1	77435243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.677000	0.74503	1.335000	0.45486	0.591000	0.81541	ATG		0.502	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		126	517	0	0	0	1	0	126	517				
JSRP1	126306	broad.mit.edu	37	19	2255205	2255205	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2255205C>A	ENST00000300961.6	-	2	173	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	JSRP1_ENST00000586471.2_Splice_Site_p.A37S	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	37	Mediates interaction with CACNA1S. {ECO:0000250}.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGGGTACCTGAAGCCCTG	0.652																																						ENST00000300961.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6						c.e2+1		junctional sarcoplasmic reticulum protein 1							38.0	40.0	39.0					19																	2255205		2200	4298	6498	SO:0001630	splice_region_variant	126306					sarcoplasmic reticulum membrane		g.chr19:2255205C>A	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"""homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"""	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.109+1G>T	19.37:g.2255205C>A						JSRP1_ENST00000586471.1_Splice_Site_p.A37_splice	p.A37_splice	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	173	-			37			Mediates interaction with CACNA1S (By similarity).			Splice_Site	SNP	ENST00000300961.6	37	c.109_splice	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393024	0.42410	.	.	ENSG00000167476	ENST00000300961	T	0.18657	2.2	3.63	3.63	0.41609	.	1.872170	0.03542	N	0.224035	T	0.16300	0.0392	N	0.24115	0.695	0.26197	N	0.979504	B	0.30281	0.275	B	0.22601	0.04	T	0.11641	-1.0579	9	.	.	.	.	10.9866	0.47526	0.0:1.0:0.0:0.0	.	37	Q96MG2	JSPR1_HUMAN	S	37	ENSP00000300961:A37S	.	A	-	1	0	JSRP1	2206205	0.992000	0.36948	0.300000	0.25030	0.278000	0.26855	3.501000	0.53325	2.022000	0.59522	0.561000	0.74099	GCG		0.652	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616	Missense_Mutation	25	128	1	0	9.86323e-18	1	1.09066e-17	25	128				
GPSM1	26086	broad.mit.edu	37	9	139229123	139229123	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139229123G>A	ENST00000440944.1	+	2	508	c.288G>A	c.(286-288)gcG>gcA	p.A96A	GPSM1_ENST00000392945.3_Silent_p.A96A	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	96	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TCCTGCTGGCGCGGTGAGTGG	0.682																																						ENST00000440944.1																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(286-288)gcG>gcA		G-protein signaling modulator 1							37.0	36.0	36.0					9																	139229123		2203	4300	6503	SO:0001819	synonymous_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139229123G>A	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.288G>A	9.37:g.139229123G>A						GPSM1_ENST00000392945.3_Silent_p.A96A	p.A96A	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	2	508	+		Myeloproliferative disorder(178;0.0821)	96			Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	37	c.288G>A	CCDS48055.1																																																																																				0.682	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		40	249	0	0	0	1	0	40	249				
EAPP	55837	broad.mit.edu	37	14	34985588	34985588	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34985588A>G	ENST00000250454.3	-	6	867	c.786T>C	c.(784-786)tgT>tgC	p.C262C		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	262					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTTCAGTGGAACATTCAGTGC	0.453																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(784-786)tgT>tgC		E2F-associated phosphoprotein							206.0	199.0	202.0					14																	34985588		1981	4160	6141	SO:0001819	synonymous_variant	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34985588A>G	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.786T>C	14.37:g.34985588A>G							p.C262C	NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	6	867	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		262					Q9BVF4|Q9NWV5|Q9NZ86	Silent	SNP	ENST00000250454.3	37	c.786T>C	CCDS41941.1																																																																																				0.453	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		64	790	0	0	0	1	0	64	790				
LAMA2	3908	broad.mit.edu	37	6	129687448	129687448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687448C>T	ENST00000421865.2	+	33	4851	c.4802C>T	c.(4801-4803)cCg>cTg	p.P1601L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1601	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCACTGGTCCGCTGCCTGCG	0.512																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4801-4803)cCg>cTg		laminin, alpha 2							103.0	89.0	94.0					6																	129687448		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129687448C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4802C>T	6.37:g.129687448C>T	ENSP00000400365:p.Pro1601Leu						p.P1601L	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	33	4851	+			1601			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4802C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578180	0.45902	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.08458	3.09	5.05	5.05	0.67936	Laminin I (1);	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.28170	-1.0052	10	0.10377	T	0.69	.	16.9754	0.86311	0.0:1.0:0.0:0.0	.	1601;1601	A6NF00;P24043	.;LAMA2_HUMAN	L	1601	ENSP00000400365:P1601L	ENSP00000346769:P1601L	P	+	2	0	LAMA2	129729141	1.000000	0.71417	0.990000	0.47175	0.751000	0.42716	5.165000	0.64959	2.503000	0.84419	0.655000	0.94253	CCG		0.512	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			56	244	0	0	0	1	0	56	244				
KCNU1	157855	broad.mit.edu	37	8	36694367	36694367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36694367C>T	ENST00000399881.3	+	14	1459	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	474	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACATCATCTGCTTTGCTGAAT	0.428																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1420-1422)tgC>tgT		potassium channel, subfamily U, member 1							148.0	147.0	147.0					8																	36694367		1872	4116	5988	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36694367C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1422C>T	8.37:g.36694367C>T							p.C474C	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	14	1459	+			474			RCK N-terminal.			Silent	SNP	ENST00000399881.3	37	c.1422C>T	CCDS55220.1																																																																																				0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		46	469	0	0	0	1	0	46	469				
ANKS1B	56899	broad.mit.edu	37	12	99548174	99548174	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99548174C>A	ENST00000547776.2	-	15	2419		c.e15-1		ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000550693.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATCTGGGTCCTGTAAGAGGA	0.532																																						ENST00000550693.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(97-99)Gga>Tga		ankyrin repeat and sterile alpha motif domain containing 1B							107.0	110.0	109.0					12																	99548174		1996	4158	6154	SO:0001630	splice_region_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99548174C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2420-1G>T	12.37:g.99548174C>A						ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000547776.2_Splice_Site|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*	p.G33*	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	1	350	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	807					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Nonsense_Mutation	SNP	ENST00000547776.2	37	c.97G>T	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.761311|2.761311	0.49468|0.49468	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000547446;ENST00000550778|ENST00000549558;ENST00000550693;ENST00000549493;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.6025|18.6025	0.91253|0.91253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|.	.|G	-|-	.|1	.|0	ANKS1B|ANKS1B	98072305|98072305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.450000|5.450000	0.66626|0.66626	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	.|GGA		0.532	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	Intron	55	197	1	0	2.73381e-35	1	3.26223e-35	55	197				
CREBBP	1387	broad.mit.edu	37	16	3778862	3778862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3778862G>A	ENST00000262367.5	-	31	6995	c.6186C>T	c.(6184-6186)atC>atT	p.I2062I	CREBBP_ENST00000382070.3_Silent_p.I2024I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2062					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCTGGGTGAGATGCTCCTGG	0.652			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6184-6186)atC>atT		CREB binding protein																																				SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778862G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6186C>T	16.37:g.3778862G>A						CREBBP_ENST00000382070.3_Silent_p.I2024I	p.I2062I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6995	-		Ovarian(90;0.0266)	2062					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.6186C>T	CCDS10509.1																																																																																				0.652	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		26	399	0	0	0	1	0	26	399				
PPFIA2	8499	broad.mit.edu	37	12	81732974	81732974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81732974G>A	ENST00000549396.1	-	21	2693	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*	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	845					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R845*(1)		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						TGCCCAAGTCGAGCTTTTTCT	0.413																																						ENST00000550584.2																			1	Substitution - Nonsense(1)	p.R845*(1)	large_intestine(1)	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.(2533-2535)Cga>Tga		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							197.0	195.0	196.0					12																	81732974		1863	4103	5966	SO:0001587	stop_gained	8499							g.chr12:81732974G>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.2533C>T	12.37:g.81732974G>A	ENSP00000450337:p.Arg845*					PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*	p.R845*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			20	2828	-			771					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.2533C>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981454|3.981454	0.74474|0.74474	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77905	.|-0.2413	.|3	0.02654|.	T|.	1|.	-9.8226|-9.8226	19.7201|19.7201	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	845;827;412;62;771;856;827;845;746;845|7	.|.	ENSP00000327416:R827X|.	R|S	-|-	1|2	2|0	PPFIA2|PPFIA2	80257105|80257105	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.679000|0.679000	0.39708|0.39708	3.168000|3.168000	0.50801|0.50801	2.661000|2.661000	0.90470|0.90470	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.413	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			141	614	0	0	0	1	0	141	614				
LIN9	286826	broad.mit.edu	37	1	226454009	226454009	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226454009G>A	ENST00000328205.5	-	9	1434	c.889C>T	c.(889-891)Cca>Tca	p.P297S	LIN9_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	281					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCAGCAATTGGCATTGTCTCA	0.363																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(889-891)Cca>Tca		lin-9 homolog (C. elegans)							58.0	58.0	58.0					1																	226454009		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226454009G>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.889C>T	1.37:g.226454009G>A	ENSP00000329102:p.Pro297Ser					LIN9_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	p.P297S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	9	1434	-	Breast(184;0.158)		281					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.889C>T	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005920	0.54254	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.33485	1.01	0.80722	D	1	B;B;P	0.37330	0.15;0.11;0.59	B;B;B	0.34180	0.027;0.057;0.177	T	0.39482	-0.9612	9	0.25106	T	0.35	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	262;281;431	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	S	257;297;352;246;262;431	.	ENSP00000329102:P297S	P	-	1	0	LIN9	224520632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.584000	0.90798	2.763000	0.94921	0.561000	0.74099	CCA		0.363	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		37	97	0	0	0	1	0	37	97				
CDH9	1007	broad.mit.edu	37	5	26903822	26903822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26903822G>A	ENST00000231021.4	-	6	1095	c.923C>T	c.(922-924)gCt>gTt	p.A308V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCTCCTTCAGCAATGCTATA	0.423																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(922-924)gCt>gTt		cadherin 9, type 2 (T1-cadherin)							293.0	255.0	267.0					5																	26903822		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903822G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.923C>T	5.37:g.26903822G>A	ENSP00000231021:p.Ala308Val						p.A308V	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1095	-			308			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.923C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.084935	0.08583	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.74	4.85	0.62838	Cadherin (4);Cadherin-like (1);	0.770981	0.12924	N	0.427965	T	0.17023	0.0409	N	0.00742	-1.23	0.20638	N	0.999873	B	0.02656	0.0	B	0.04013	0.001	T	0.09618	-1.0666	9	.	.	.	.	10.8091	0.46535	0.1489:0.0:0.8511:0.0	.	308	Q9ULB4	CADH9_HUMAN	V	308	ENSP00000231021:A308V	.	A	-	2	0	CDH9	26939579	0.079000	0.21365	0.994000	0.49952	0.741000	0.42261	2.924000	0.48876	2.881000	0.98747	0.650000	0.86243	GCT		0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		188	732	0	0	0	1	0	188	732				
CATSPER1	117144	broad.mit.edu	37	11	65792817	65792817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65792817C>T	ENST00000312106.5	-	1	1171	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	345					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACTCCTGTACGAGAAGCAGC	0.597																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1033-1035)cGt>cAt		cation channel, sperm associated 1							120.0	97.0	105.0					11																	65792817		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792817C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1034G>A	11.37:g.65792817C>T	ENSP00000309052:p.Arg345His						p.R345H	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	1171	-			345					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1034G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866270	0.02590	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	2.15	-4.29	0.03721	.	.	.	.	.	D	0.83524	0.5273	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.76187	-0.3051	9	0.16896	T	0.51	.	5.2396	0.15464	0.0:0.5208:0.1772:0.302	.	345	Q8NEC5	CTSR1_HUMAN	H	345	ENSP00000309052:R345H	ENSP00000309052:R345H	R	-	2	0	CATSPER1	65549393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.628000	0.02031	-1.542000	0.01725	-0.501000	0.04562	CGT		0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		28	273	0	0	0	1	0	28	273				
IQGAP3	128239	broad.mit.edu	37	1	156501021	156501021	+	Silent	SNP	G	G	A	rs201700249	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156501021G>A	ENST00000361170.2	-	33	4132	c.4122C>T	c.(4120-4122)gcC>gcT	p.A1374A	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1374					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTATGATATCGGCCAACAGCT	0.592													G|||	32	0.00638978	0.0	0.0	5008	,	,		20641	0.001		0.0	False		,,,				2504	0.0317					ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4120-4122)gcC>gcT		IQ motif containing GTPase activating protein 3							138.0	124.0	128.0					1																	156501021		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156501021G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4122C>T	1.37:g.156501021G>A							p.A1374A	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			33	4132	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1374					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.4122C>T	CCDS1144.1																																																																																				0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		131	363	0	0	0	1	0	131	363				
MAGI1	9223	broad.mit.edu	37	3	65415781	65415781	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65415781A>C	ENST00000497477.2	-	12	1580	c.1581T>G	c.(1579-1581)gtT>gtG	p.V527V	MAGI1_ENST00000402939.2_Silent_p.V527V|MAGI1_ENST00000330909.8_Silent_p.V527V|MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	527	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGTCCCAAAACACAGGTGT	0.458																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1579-1581)gtT>gtG		membrane associated guanylate kinase, WW and PDZ domain containing 1							84.0	69.0	74.0					3																	65415781		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65415781A>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1581T>G	3.37:g.65415781A>C						MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000497477.2_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.V527V	p.V527V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	12	1580	-		Lung NSC(201;0.0016)	527			PDZ 2.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1581T>G		.	.	.	.	.	.	.	.	.	.	A	9.836	1.189706	0.21954	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.92	0.898	0.19264	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-20.2447	6.8542	0.24032	0.3073:0.3707:0.322:0.0	.	.	.	.	C	408	.	.	F	-	2	0	MAGI1	65390821	0.822000	0.29219	0.999000	0.59377	0.996000	0.88848	0.027000	0.13621	0.140000	0.18849	0.528000	0.53228	TTT		0.458	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		32	174	0	0	0	1	0	32	174				
SSFA2	6744	broad.mit.edu	37	2	182781011	182781011	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781011G>T	ENST00000431877.2	+	11	2823	c.2644G>T	c.(2644-2646)Gct>Tct	p.A882S	SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S|SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S|SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	882						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGTGCCTTCGCTTCCCCTTT	0.517																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2644-2646)Gct>Tct		sperm specific antigen 2							137.0	121.0	127.0					2																	182781011		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182781011G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2644G>T	2.37:g.182781011G>T	ENSP00000388731:p.Ala882Ser					SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S|SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S|SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S	p.A882S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2823	+			882					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2644G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.857345	0.00558	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.55	-11.1	0.00147	.	2.062670	0.01651	N	0.024554	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.006;0.006;0.006;0.006	B;B;B;B;B	0.13407	0.003;0.009;0.003;0.003;0.003	T	0.09207	-1.0685	10	0.16420	T	0.52	5.4602	5.474	0.16686	0.163:0.2509:0.4531:0.133	.	729;391;882;882;882	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	S	882;882;882;729;391	ENSP00000388731:A882S;ENSP00000314669:A882S;ENSP00000387319:A882S;ENSP00000409867:A729S;ENSP00000386916:A391S	ENSP00000314669:A882S	A	+	1	0	SSFA2	182489256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.891000	0.01611	-3.744000	0.00112	-0.136000	0.14681	GCT		0.517	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		116	370	1	0	8.58103e-55	1	1.07165e-54	116	370				
EMR2	30817	broad.mit.edu	37	19	14863237	14863237	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14863237G>T	ENST00000315576.3	-	15	2143	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000596991.2_Silent_p.I553I|EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000594294.1_Silent_p.I515I|EMR2_ENST00000353005.1_Silent_p.I422I|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000392964.3_3'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	564					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGGTGTTCTGGATGGCTTTAC	0.572																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1690-1692)atC>atA		egf-like module containing, mucin-like, hormone receptor-like 2							128.0	111.0	117.0					19																	14863237		2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14863237G>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1692C>A	19.37:g.14863237G>T						EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000596991.2_Silent_p.I553I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000353005.1_Silent_p.I422I|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000594294.1_Silent_p.I515I	p.I564I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			15	2143	-			564					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.1692C>A	CCDS32935.1																																																																																				0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			51	321	1	0	2.74695e-27	1	3.17909e-27	51	321				
GBX2	2637	broad.mit.edu	37	2	237076320	237076320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076320C>T	ENST00000306318.4	-	1	692	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	GBX2_ENST00000551105.1_Missense_Mutation_p.A99T|GBX2_ENST00000465889.1_5'Flank|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	99				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GAGGTGAGCGCCATGCCCTGC	0.746																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(295-297)Gcg>Acg		gastrulation brain homeobox 2							12.0	17.0	15.0					2																	237076320		2145	4210	6355	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237076320C>T	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.295G>A	2.37:g.237076320C>T	ENSP00000302251:p.Ala99Thr					AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.A99T|AC079135.1_ENST00000483218.1_RNA	p.A99T	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	1	692	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	99	LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).				B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.295G>A	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478753	0.84747	.	.	ENSG00000168505	ENST00000306318;ENST00000551105	D	0.92446	-3.04	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	N	0.19112	0.55	0.58432	D	0.999999	D;B	0.76494	0.999;0.024	D;B	0.74023	0.982;0.007	D	0.88360	0.2987	10	0.15952	T	0.53	-13.0501	14.1461	0.65351	0.0:0.8486:0.1513:0.0	.	99;99	F8VY47;P52951	.;GBX2_HUMAN	T	99	ENSP00000302251:A99T	ENSP00000302251:A99T	A	-	1	0	GBX2	236741059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.450000	0.44943	2.176000	0.68965	0.462000	0.41574	GCG		0.746	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		22	120	0	0	0	1	0	22	120				
DHX8	1659	broad.mit.edu	37	17	41599414	41599414	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41599414G>T	ENST00000262415.3	+	22	3335		c.e22-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8						ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TATCTTGATAGACACAAGCTG	0.498																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e22-1		DEAH (Asp-Glu-Ala-His) box polypeptide 8							190.0	179.0	183.0					17																	41599414		2203	4300	6503	SO:0001630	splice_region_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41599414G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3264-1G>T	17.37:g.41599414G>T						DHX8_ENST00000540306.1_Splice_Site		NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	22	3335	+		Breast(137;0.00908)							Splice_Site	SNP	ENST00000262415.3	37		CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662375	0.88251	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7186	0.91685	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX8	38954940	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.992000	0.88273	2.735000	0.93741	0.655000	0.94253	.		0.498	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		Intron	160	814	1	0	2.33983e-75	1	2.98337e-75	160	814				
ATP1A4	480	broad.mit.edu	37	1	160141048	160141048	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160141048T>C	ENST00000368081.4	+	11	1970	c.1499T>C	c.(1498-1500)aTc>aCc	p.I500T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	500					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGATGTCCATCCACCTTCGG	0.507																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1498-1500)aTc>aCc		ATPase, Na+/K+ transporting, alpha 4 polypeptide							126.0	127.0	127.0					1																	160141048		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160141048T>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1499T>C	1.37:g.160141048T>C	ENSP00000357060:p.Ile500Thr						p.I500T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1970	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		500					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1499T>C	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330839	0.24167	.	.	ENSG00000132681	ENST00000368081	T	0.80738	-1.41	4.29	4.29	0.51040	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052036	0.64402	D	0.000001	D	0.83649	0.5300	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.85949	0.1463	10	0.87932	D	0	.	11.7097	0.51618	0.0:0.0:0.0:1.0	.	500	Q13733	AT1A4_HUMAN	T	500	ENSP00000357060:I500T	ENSP00000357060:I500T	I	+	2	0	ATP1A4	158407672	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.963000	0.70372	1.921000	0.55644	0.533000	0.62120	ATC		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		157	490	0	0	0	1	0	157	490				
RUSC2	9853	broad.mit.edu	37	9	35548113	35548113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548113C>T	ENST00000455600.1	+	2	2164	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	532						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCCATGGCCGGGCCTGGC	0.657																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1594-1596)gCc>gTc		RUN and SH3 domain containing 2							22.0	24.0	23.0					9																	35548113		2200	4294	6494	SO:0001583	missense	9853					cytosol		g.chr9:35548113C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1595C>T	9.37:g.35548113C>T	ENSP00000393922:p.Ala532Val						p.A532V	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2164	+			532					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1595C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369892	0.42003	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.30981	1.51;1.51	5.67	4.78	0.61160	.	0.353263	0.30244	N	0.010071	T	0.23330	0.0564	L	0.32530	0.975	0.27433	N	0.953941	B	0.16166	0.016	B	0.15870	0.014	T	0.12293	-1.0553	10	0.18710	T	0.47	-0.8445	13.4712	0.61283	0.0:0.9253:0.0:0.0747	.	532	Q8N2Y8	RUSC2_HUMAN	V	532	ENSP00000355177:A532V;ENSP00000393922:A532V	ENSP00000355177:A532V	A	+	2	0	RUSC2	35538113	0.972000	0.33761	0.971000	0.41717	0.814000	0.46013	2.759000	0.47573	1.403000	0.46800	0.655000	0.94253	GCC		0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		46	192	0	0	0	1	0	46	192				
C17orf75	64149	broad.mit.edu	37	17	30665300	30665300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30665300T>C	ENST00000577809.1	-	4	467	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	140										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTCTATCGTTACTGTTTCA	0.358																																						ENST00000577809.1																			0				ovary(1)	1						c.(418-420)Acg>Gcg		chromosome 17 open reading frame 75							121.0	116.0	117.0					17																	30665300		1839	4100	5939	SO:0001583	missense	64149				spermatogenesis			g.chr17:30665300T>C	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.418A>G	17.37:g.30665300T>C	ENSP00000464275:p.Thr140Ala					C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A|RP11-227G15.3_ENST00000581915.1_RNA	p.T140A	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	467	-		Breast(31;0.116)|Ovarian(249;0.182)	140					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.418A>G	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	T	3.600	-0.081745	0.07141	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.62	0.773	0.18516	.	0.406564	0.30003	N	0.010642	T	0.16257	0.0391	N	0.16478	0.41	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.21008	-1.0258	9	0.14252	T	0.57	-13.093	4.9529	0.14023	0.124:0.2811:0.0:0.5949	.	140	Q9HAS0	NJMU_HUMAN	A	140	.	ENSP00000225805:T140A	T	-	1	0	C17orf75	27689413	0.404000	0.25328	0.386000	0.26170	0.003000	0.03518	0.321000	0.19558	0.085000	0.17107	-0.411000	0.06167	ACG		0.358	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		51	462	0	0	0	1	0	51	462				
RC3H2	54542	broad.mit.edu	37	9	125627791	125627791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125627791G>A	ENST00000373670.1	-	9	2071	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S	RC3H2_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S|RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	491					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTGTACTTGGAACAATTTTC	0.403																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1471-1473)Cca>Tca		ring finger and CCCH-type domains 2							186.0	169.0	174.0					9																	125627791		1887	4104	5991	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125627791G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1471C>T	9.37:g.125627791G>A	ENSP00000362774:p.Pro491Ser					RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S|RC3H2_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S	p.P491S			Q9HBD1	RC3H2_HUMAN			9	2071	-			491					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1471C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765436	0.69878	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.43294	0.95;0.95;0.96	5.97	4.12	0.48240	.	0.260591	0.38720	N	0.001600	T	0.48333	0.1494	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	T	0.33979	-0.9847	10	0.24483	T	0.36	-8.3702	14.8346	0.70172	0.0:0.2712:0.7288:0.0	.	491;491	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	S	491;491;362;491	ENSP00000362774:P491S;ENSP00000349783:P491S;ENSP00000411767:P491S	ENSP00000349783:P491S	P	-	1	0	RC3H2	124667612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.727000	0.47311	0.841000	0.35020	-0.156000	0.13503	CCA		0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		62	350	0	0	0	1	0	62	350				
PFKL	5211	broad.mit.edu	37	21	45744399	45744399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45744399C>T	ENST00000349048.4	+	17	1731	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V	PFKL_ENST00000403390.1_Missense_Mutation_p.A606V	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	559	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AAACAGTCTGCCTCGGGGACC	0.672																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1816-1818)gCc>gTc		phosphofructokinase, liver							67.0	63.0	65.0					21																	45744399		2202	4300	6502	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45744399C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1676C>T	21.37:g.45744399C>T	ENSP00000269848:p.Ala559Val					PFKL_ENST00000349048.4_Missense_Mutation_p.A559V	p.A606V			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	18	1817	+			559					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.1817C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358152	0.82243	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.84298	-1.83;-1.83	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97112	0.9805	10	0.87932	D	0	-34.7073	15.126	0.72483	0.0:1.0:0.0:0.0	.	559;606	P17858;P17858-2	K6PL_HUMAN;.	V	559;352;606	ENSP00000269848:A559V;ENSP00000384038:A606V	ENSP00000269848:A559V	A	+	2	0	PFKL	44568827	1.000000	0.71417	0.928000	0.36995	0.351000	0.29236	7.399000	0.79935	1.852000	0.53769	0.467000	0.42956	GCC		0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			29	252	0	0	0	1	0	29	252				
MAP3K13	9175	broad.mit.edu	37	3	185200169	185200169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185200169C>T	ENST00000265026.3	+	14	3160	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	MAP3K13_ENST00000446828.1_Silent_p.D735D|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000535426.1_Silent_p.D798D|MAP3K13_ENST00000424227.1_Silent_p.D942D	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.D942D(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGAATCGGACTGTGACTCTT	0.423																																						ENST00000265026.3																			1	Substitution - coding silent(1)	p.D942D(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2824-2826)gaC>gaT		mitogen-activated protein kinase kinase kinase 13							208.0	187.0	194.0					3																	185200169		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185200169C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2826C>T	3.37:g.185200169C>T						TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000446828.1_Silent_p.D735D|MAP3K13_ENST00000424227.1_Silent_p.D942D|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000535426.1_Silent_p.D798D	p.D942D	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		14	3160	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		942						Silent	SNP	ENST00000265026.3	37	c.2826C>T	CCDS3270.1																																																																																				0.423	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		117	468	0	0	0	1	0	117	468				
SPINK13	153218	broad.mit.edu	37	5	147649640	147649640	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147649640C>A	ENST00000512953.1	+	3	536	c.5C>A	c.(4-6)gCt>gAt	p.A2D	SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	2					negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|lung(3)	5						GATCAAATGGCTGCCTTTCCC	0.408																																						ENST00000512953.1																			0				breast(2)|lung(3)	5						c.(4-6)gCt>gAt		serine peptidase inhibitor, Kazal type 13 (putative)							228.0	208.0	214.0					5																	147649640		1858	4095	5953	SO:0001583	missense	153218					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147649640C>A		CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"""Serine peptidase inhibitors, Kazal type"""	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.5C>A	5.37:g.147649640C>A	ENSP00000421048:p.Ala2Asp					SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D	p.A2D			Q1W4C9	ISK13_HUMAN			3	536	+			2					A1A4Y2	Missense_Mutation	SNP	ENST00000512953.1	37	c.5C>A	CCDS43383.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419487	0.62622	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	D;D	0.85773	-2.03;-2.03	3.99	3.99	0.46301	.	.	.	.	.	D	0.90109	0.6910	.	.	.	0.24203	N	0.9955	D	0.76494	0.999	D	0.65773	0.938	T	0.81335	-0.0979	8	0.62326	D	0.03	-0.8141	11.9878	0.53157	0.0:1.0:0.0:0.0	.	2	Q1W4C9	ISK13_HUMAN	D	2	ENSP00000421048:A2D;ENSP00000381468:A2D	ENSP00000381468:A2D	A	+	2	0	SPINK13	147629833	0.086000	0.21541	0.924000	0.36721	0.151000	0.21798	0.427000	0.21379	2.533000	0.85409	0.603000	0.83216	GCT		0.408	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373337.1	NM_001040129.2		28	793	1	0	1.7881e-09	1	1.88299e-09	28	793				
MAP2K1	5604	broad.mit.edu	37	15	66729129	66729129	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66729129A>C	ENST00000307102.5	+	3	868	c.337A>C	c.(337-339)Agg>Cgg	p.R113R		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCAGATCATAAGGGAGCTGCA	0.488																																						ENST00000307102.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						c.(337-339)Agg>Cgg		mitogen-activated protein kinase kinase 1							132.0	105.0	114.0					15																	66729129		2201	4299	6500	SO:0001819	synonymous_variant	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66729129A>C	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.337A>C	15.37:g.66729129A>C							p.R113R	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			3	868	+			113			Protein kinase.			Silent	SNP	ENST00000307102.5	37	c.337A>C	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539635	0.27563	.	.	ENSG00000169032	ENST00000425818	.	.	.	4.52	-3.33	0.04958	.	.	.	.	.	T	0.63965	0.2556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64453	-0.6404	4	.	.	.	-26.682	14.717	0.69277	0.2366:0.7634:0.0:0.0	.	.	.	.	T	52	.	.	K	+	2	0	MAP2K1	64516183	0.932000	0.31603	0.982000	0.44146	0.993000	0.82548	0.554000	0.23407	-0.367000	0.08052	0.533000	0.62120	AAG		0.488	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			59	294	0	0	0	1	0	59	294				
SLC29A3	55315	broad.mit.edu	37	10	73121880	73121880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73121880G>A	ENST00000373189.5	+	6	995	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	315					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGTCACCTACGTCTTCTTCAT	0.577																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)Gtc>Atc		solute carrier family 29 (equilibrative nucleoside transporter), member 3							171.0	175.0	174.0					10																	73121880		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73121880G>A	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.943G>A	10.37:g.73121880G>A	ENSP00000362285:p.Val315Ile					SLC29A3_ENST00000469204.1_3'UTR	p.V315I	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			6	995	+			315					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.943G>A	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	3.803	-0.041220	0.07452	.	.	ENSG00000198246	ENST00000373189	T	0.62788	-0.0	5.62	-3.16	0.05217	.	0.511061	0.19037	N	0.124400	T	0.44685	0.1305	L	0.52759	1.655	0.31699	N	0.640933	B	0.22146	0.065	B	0.23150	0.044	T	0.28554	-1.0040	9	0.21540	T	0.41	-24.0032	4.6273	0.12484	0.5022:0.161:0.2622:0.0746	.	315	Q9BZD2	S29A3_HUMAN	I	315	ENSP00000362285:V315I	ENSP00000362285:V315I	V	+	1	0	SLC29A3	72791886	0.025000	0.19082	0.012000	0.15200	0.042000	0.13812	0.286000	0.18902	-0.217000	0.10033	-0.140000	0.14226	GTC		0.577	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		233	903	0	0	0	1	0	233	903				
KRT5	3852	broad.mit.edu	37	12	52913904	52913904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52913904G>A	ENST00000252242.4	-	1	567	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	59	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGCCATAGCCACCCACTC	0.647																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(175-177)ggC>ggT		keratin 5							45.0	60.0	55.0					12																	52913904		2201	4293	6494	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913904G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.177C>T	12.37:g.52913904G>A							p.G59G	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	567	-			59			Gly-rich.|Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.177C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635730	0.14322	.	.	ENSG00000186081	ENST00000456000	.	.	.	5.93	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2039	0.43101	0.2044:0.0:0.7956:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT5	51200171	0.992000	0.36948	0.814000	0.32528	0.075000	0.17131	0.863000	0.27913	0.836000	0.34901	-0.136000	0.14681	.		0.647	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			238	385	0	0	0	1	0	238	385				
PLRG1	5356	broad.mit.edu	37	4	155465619	155465619	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155465619T>C	ENST00000499023.2	-	7	698	c.572A>G	c.(571-573)cAc>cGc	p.H191R	PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R|PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R|RNU6-1285P_ENST00000363480.1_RNA	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	191					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CCACGGTGGGTGCCACTGGGG	0.423																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(571-573)cAc>cGc		pleiotropic regulator 1							132.0	131.0	131.0					4																	155465619		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155465619T>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.572A>G	4.37:g.155465619T>C	ENSP00000424417:p.His191Arg					PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R|PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R	p.H191R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			7	698	-	all_hematologic(180;0.215)	Renal(120;0.0854)	191					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.572A>G	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667238	0.88251	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.80824	-1.42;-1.42;-1.42	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	L	0.51422	1.61	0.80722	D	1	P;B	0.39404	0.672;0.199	B;P	0.49387	0.283;0.609	D	0.84188	0.0443	10	0.56958	D	0.05	-12.8404	16.5494	0.84464	0.0:0.0:0.0:1.0	.	182;191	O43660-2;O43660	.;PLRG1_HUMAN	R	191;191;182;189	ENSP00000424417:H191R;ENSP00000377483:H191R;ENSP00000303191:H182R	ENSP00000303191:H182R	H	-	2	0	PLRG1	155685069	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	CAC		0.423	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		63	223	0	0	0	1	0	63	223				
MYRIP	25924	broad.mit.edu	37	3	40251388	40251388	+	Missense_Mutation	SNP	G	G	A	rs146905729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40251388G>A	ENST00000302541.6	+	11	2051	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	570	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AATGAGGCTCGGGATCCCCAG	0.483																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1708-1710)cGg>cAg		myosin VIIA and Rab interacting protein		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	103.0	104.0		1709	-11.1	0.0	3	dbSNP_134	104	6,8594	5.0+/-18.6	0,6,4294	yes	missense	MYRIP	NM_015460.2	43	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign	570/860	40251388	7,12999	2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40251388G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1709G>A	3.37:g.40251388G>A	ENSP00000301972:p.Arg570Gln					MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q	p.R570Q	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	11	2051	+			570			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1709G>A	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092538	0.08632	2.27E-4	6.98E-4	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.54	-11.1	0.00147	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.219430	0.05706	N	0.595052	T	0.05090	0.0136	N	0.02225	-0.63	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.20739	-1.0266	9	.	.	.	.	4.1303	0.10146	0.3183:0.1099:0.4637:0.1081	.	481;570;570	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	Q	570;570;570;481;383	ENSP00000398665:R570Q;ENSP00000301972:R570Q;ENSP00000389323:R570Q;ENSP00000379519:R481Q;ENSP00000438297:R383Q	.	R	+	2	0	MYRIP	40226392	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	0.017000	0.13399	-2.264000	0.00689	-0.794000	0.03295	CGG		0.483	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		75	367	0	0	0	1	0	75	367				
NPHP4	261734	broad.mit.edu	37	1	5926444	5926444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5926444G>A	ENST00000378156.4	-	26	3898	c.3633C>T	c.(3631-3633)gtC>gtT	p.V1211V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1211					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAAATGATGACAAAGAAGT	0.582																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3631-3633)gtC>gtT		nephronophthisis 4							43.0	45.0	44.0					1																	5926444		1943	4138	6081	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5926444G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3633C>T	1.37:g.5926444G>A						NPHP4_ENST00000478423.2_5'UTR	p.V1211V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	26	3898	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1211					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.3633C>T	CCDS44052.1																																																																																				0.582	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			10	53	0	0	0	1	0	10	53				
LOXL2	4017	broad.mit.edu	37	8	23185946	23185946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23185946G>T	ENST00000389131.3	-	6	1468	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	367	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCAAAGCCCAGCTCTCTGCAG	0.627																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1099-1101)Ctg>Atg		lysyl oxidase-like 2							104.0	86.0	92.0					8																	23185946		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23185946G>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1099C>A	8.37:g.23185946G>T	ENSP00000373783:p.Leu367Met						p.L367M	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	6	1468	-		Prostate(55;0.0453)|Breast(100;0.143)	367			SRCR 3.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1099C>A	CCDS34864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538091|4.538091	0.85917|0.85917	.|.	.|.	ENSG00000134013|ENSG00000134013	ENST00000389131|ENST00000520349	T|.	0.56941|.	0.43|.	5.38|5.38	4.5|4.5	0.54988|0.54988	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.64830|.	0.994|.	D|.	0.64687|.	0.928|.	T|T	0.79045|0.79045	-0.1964|-0.1964	10|5	0.62326|.	D|.	0.03|.	.|.	12.2427|12.2427	0.54553|0.54553	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	367|.	Q9Y4K0|.	LOXL2_HUMAN|.	M|R	367|83	ENSP00000373783:L367M|.	ENSP00000373783:L367M|.	L|S	-|-	1|3	2|2	LOXL2|LOXL2	23241891|23241891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.059000|4.059000	0.57470|0.57470	2.510000|2.510000	0.84645|0.84645	0.462000|0.462000	0.41574|0.41574	CTG|AGC		0.627	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			127	413	1	0	4.90586e-66	1	6.20583e-66	127	413				
FSIP2	401024	broad.mit.edu	37	2	186671858	186671858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671858G>A	ENST00000424728.1	+	17	17825	c.17825G>A	c.(17824-17826)gGa>gAa	p.G5942E	FSIP2_ENST00000343098.5_Missense_Mutation_p.G6031E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5942										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACAGTAATGGAGAAAATTTA	0.318																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18091-18093)gGa>gAa		fibrous sheath interacting protein 2							106.0	103.0	104.0					2																	186671858		1813	4069	5882	SO:0001583	missense	401024							g.chr2:186671858G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17825G>A	2.37:g.186671858G>A	ENSP00000401306:p.Gly5942Glu					FSIP2_ENST00000424728.1_Missense_Mutation_p.G5942E	p.G6031E	NM_173651.2	NP_775922.2					17	18092	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18092G>A		.	.	.	.	.	.	.	.	.	.	G	12.44	1.938612	0.34189	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.55413	0.52;0.53	4.8	2.01	0.26516	.	0.701833	0.13045	N	0.418241	T	0.43389	0.1245	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.30995	-0.9959	8	0.38643	T	0.18	.	6.7008	0.23225	0.2981:0.0:0.7019:0.0	.	.	.	.	E	6031;5942	ENSP00000344403:G6031E;ENSP00000401306:G5942E	ENSP00000344403:G6031E	G	+	2	0	FSIP2	186380103	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	0.567000	0.23608	0.232000	0.21100	0.491000	0.48974	GGA		0.318	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		79	378	0	0	0	1	0	79	378				
B3GNT4	79369	broad.mit.edu	37	12	122691403	122691403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122691403G>A	ENST00000324189.4	+	3	961	c.605G>A	c.(604-606)cGc>cAc	p.R202H	B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000535274.1_Missense_Mutation_p.R177H	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	202					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CACCTGCAGCGCTGGGTGGTG	0.567																																						ENST00000535274.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(529-531)cGc>cAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4							45.0	48.0	47.0					12																	122691403		2203	4300	6503	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691403G>A	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.605G>A	12.37:g.122691403G>A	ENSP00000319636:p.Arg202His					B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.R202H	p.R177H			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2257	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		202					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.530G>A	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174716	0.78452	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.45668	0.89;0.89;0.89	4.93	4.04	0.47022	.	0.000000	0.50627	D	0.000104	T	0.60327	0.2260	M	0.67517	2.055	0.35791	D	0.822427	D	0.89917	1.0	D	0.71414	0.973	T	0.71876	-0.4460	10	0.72032	D	0.01	.	12.8768	0.57994	0.0799:0.0:0.9201:0.0	.	202	Q9C0J1	B3GN4_HUMAN	H	202;177;177	ENSP00000319636:R202H;ENSP00000438840:R177H;ENSP00000444534:R177H	ENSP00000319636:R202H	R	+	2	0	B3GNT4	121257356	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.880000	0.63107	1.201000	0.43203	0.655000	0.94253	CGC		0.567	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		59	318	0	0	0	1	0	59	318				
FRAS1	80144	broad.mit.edu	37	4	79461814	79461814	+	Missense_Mutation	SNP	G	G	A	rs376591687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79461814G>A	ENST00000264895.6	+	74	12015	c.11575G>A	c.(11575-11577)Gat>Aat	p.D3859N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3855					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTAGAGCCCGATGGCCAGCT	0.537																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(11575-11577)Gat>Aat		Fraser syndrome 1		A	ASN/ASP	0,4042		0,0,2021	42.0	45.0	44.0		11575	4.3	1.0	4		44	1,8363		0,1,4181	no	missense	FRAS1	NM_025074.6	23	0,1,6202	AA,AG,GG		0.012,0.0,0.0081	benign	3859/4013	79461814	1,12405	2021	4182	6203	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79461814G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11575G>A	4.37:g.79461814G>A	ENSP00000264895:p.Asp3859Asn						p.D3859N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			74	12015	+			3854					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11575G>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.470|5.470	0.271699|0.271699	0.10349|0.10349	0.0|0.0	1.2E-4|1.2E-4	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.40756|.	1.02|.	5.55|5.55	4.31|4.31	0.51392|0.51392	.|.	0.453509|.	0.24245|.	N|.	0.040236|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.39692|.	T|.	0.17|.	.|.	5.7709|5.7709	0.18253|0.18253	0.725:0.0:0.1481:0.1269|0.725:0.0:0.1481:0.1269	.|.	3859|.	E9PHH6|.	.|.	N|Q	3859|2087	ENSP00000264895:D3859N|.	ENSP00000264895:D3859N|.	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79680838|79680838	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.003000|0.003000	0.03518|0.03518	1.166000|1.166000	0.31834|0.31834	1.120000|1.120000	0.41904|0.41904	-0.352000|-0.352000	0.07741|0.07741	GAT|CGA		0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				36	129	0	0	0	1	0	36	129				
ARID1A	8289	broad.mit.edu	37	1	27092737	27092737	+	Nonsense_Mutation	SNP	C	C	T	rs387906845		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27092737C>T	ENST00000324856.7	+	9	3129	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	920					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATATGAATCAAGGGGGCAT	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2758-2760)Caa>Taa		AT rich interactive domain 1A (SWI-like)							85.0	84.0	85.0					1																	27092737		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27092737C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2758C>T	1.37:g.27092737C>T	ENSP00000320485:p.Gln920*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*	p.Q920*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	9	3129	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	920					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.2758C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	42	9.423699	0.99166	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.571	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	920;920;537	.	ENSP00000320485:Q920X	Q	+	1	0	ARID1A	26965324	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.305000	0.65750	2.941000	0.99782	0.655000	0.94253	CAA		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		57	201	0	0	0	1	0	57	201				
GJB6	10804	broad.mit.edu	37	13	20797589	20797589	+	Missense_Mutation	SNP	C	C	T	rs104894415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797589C>T	ENST00000356192.6	-	5	651	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R|GJB6_ENST00000400066.3_Missense_Mutation_p.G11R	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	11			G -> R (in ECTD2). {ECO:0000269|PubMed:11017065}.	G -> E (in Ref. 9; AAV67951). {ECO:0000305}.	apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TTGACACCCCCGATGAAAGTG	0.507																																						ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9	GRCh37	CM002605	GJB6	M	rs104894415	c.(31-33)Ggg>Agg		gap junction protein, beta 6, 30kDa							124.0	115.0	118.0					13																	20797589		2203	4300	6503	SO:0001583	missense	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797589C>T	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.31G>A	13.37:g.20797589C>T	ENSP00000348521:p.Gly11Arg					GJB6_ENST00000400066.3_Missense_Mutation_p.G11R|GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R	p.G11R	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	651	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	11	G -> E (in Ref. 9; AAV67951).	G -> R (in ED2).			B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	c.31G>A	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164711	0.38217	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	5.38	5.38	0.77491	Connexin, N-terminal (1);	0.134693	0.49916	D	0.000127	D	0.98789	0.9592	L	0.60455	1.87	0.51482	A	0.999923	D	0.89917	1.0	D	0.65010	0.931	D	0.99917	1.1229	9	0.62326	D	0.03	.	12.4904	0.55897	0.0:0.9239:0.0:0.076	.	11	O95452	CXB6_HUMAN	R	11	ENSP00000241124:G11R;ENSP00000382938:G11R;ENSP00000382939:G11R;ENSP00000348521:G11R	ENSP00000241124:G11R	G	-	1	0	GJB6	19695589	0.972000	0.33761	0.859000	0.33776	0.021000	0.10359	2.917000	0.48821	2.507000	0.84556	0.655000	0.94253	GGG		0.507	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			115	528	0	0	0	1	0	115	528				
NIN	51199	broad.mit.edu	37	14	51239168	51239168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51239168G>A	ENST00000382041.3	-	9	1022	c.832C>T	c.(832-834)Cga>Tga	p.R278*	NIN_ENST00000245441.5_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	278					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTGGTACGTCGTCCACTCTCA	0.498			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(832-834)Cga>Tga		ninein (GSK3B interacting protein)							98.0	78.0	85.0					14																	51239168		2203	4300	6503	SO:0001587	stop_gained	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239168G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.832C>T	14.37:g.51239168G>A	ENSP00000371472:p.Arg278*					NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*|NIN_ENST00000382041.3_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*	p.R278*	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			9	1022	-	all_epithelial(31;0.00244)|Breast(41;0.127)		278					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	37	c.832C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	38	6.661193	0.97743	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	.	.	.	5.55	3.4	0.38934	.	0.052990	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3615	13.1678	0.59581	0.0:0.0:0.4918:0.5082	.	.	.	.	X	278;278;278;278;284;278;278;278;240	.	ENSP00000245441:R278X	R	-	1	2	NIN	50308918	0.993000	0.37304	0.981000	0.43875	0.757000	0.42996	2.152000	0.42272	1.170000	0.42753	0.563000	0.77884	CGA		0.498	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		34	161	0	0	0	1	0	34	161				
EBPL	84650	broad.mit.edu	37	13	50235155	50235155	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50235155T>G	ENST00000242827.6	-	4	620	c.570A>C	c.(568-570)gaA>gaC	p.E190D	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	190					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTTTCTTGAGTTCTAGCCATG	0.408																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6																			0				endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(568-570)gaA>gaC		emopamil binding protein-like							64.0	64.0	64.0					13																	50235155		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235155T>G	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.570A>C	13.37:g.50235155T>G	ENSP00000242827:p.Glu190Asp					EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	p.E190D	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	620	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	190					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.570A>C	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932681	0.34096	.	.	ENSG00000123179	ENST00000242827	D	0.98207	-4.79	5.61	0.32	0.15878	.	0.239187	0.43110	D	0.000610	D	0.94847	0.8335	L	0.47016	1.485	0.80722	D	1	B	0.16166	0.016	B	0.17433	0.018	D	0.87792	0.2619	10	0.25751	T	0.34	-3.3949	6.6785	0.23108	0.0:0.2645:0.1192:0.6163	.	190	Q9BY08	EBPL_HUMAN	D	190	ENSP00000242827:E190D	ENSP00000242827:E190D	E	-	3	2	EBPL	49133156	0.571000	0.26659	0.994000	0.49952	0.958000	0.62258	0.552000	0.23376	0.139000	0.18822	0.528000	0.53228	GAA		0.408	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		42	243	0	0	0	1	0	42	243				
CORO7	79585	broad.mit.edu	37	16	4409543	4409543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4409543C>T	ENST00000251166.4	-	22	2333	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	CORO7_ENST00000537233.2_Missense_Mutation_p.A712T|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	730					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTTGAGGGAGCCACGTCCAGG	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2188-2190)Gct>Act		coronin 7							34.0	38.0	37.0					16																	4409543		2197	4298	6495	SO:0001583	missense	79585							g.chr16:4409543C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2188G>A	16.37:g.4409543C>T	ENSP00000251166:p.Ala730Thr		OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	618	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000537233.2_Missense_Mutation_p.A712T|CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T	p.A730T	NM_024535.4	NP_078811.3					22	2333	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.2188G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990845	0.74703	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	1.895140	0.02286	N	0.069820	T	0.61825	0.2378	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D	0.89917	0.971;1.0;1.0;0.989;0.99	P;D;D;P;P	0.91635	0.796;0.999;0.993;0.824;0.897	T	0.18209	-1.0344	10	0.52906	T	0.07	-16.4401	14.1279	0.65233	0.1503:0.8497:0.0:0.0	.	645;712;510;730;711	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	T	730;645;510	ENSP00000251166:A730T;ENSP00000446221:A510T	ENSP00000251166:A730T	A	-	1	0	CORO7	4349544	1.000000	0.71417	0.989000	0.46669	0.010000	0.07245	4.287000	0.59001	2.649000	0.89929	0.655000	0.94253	GCT		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		41	239	0	0	0	1	0	41	239				
SIGLEC8	27181	broad.mit.edu	37	19	51960871	51960871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960871C>T	ENST00000321424.3	-	2	643	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	193	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACGGAGGCCCCAATCCAGGAG	0.652																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(577-579)Ggg>Agg		sialic acid binding Ig-like lectin 8							61.0	65.0	63.0					19																	51960871		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960871C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.577G>A	19.37:g.51960871C>T	ENSP00000321077:p.Gly193Arg					SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	p.G193R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	643	-		all_neural(266;0.0199)	193			Ig-like C2-type 1.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.577G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344112	0.41498	.	.	ENSG00000105366	ENST00000321424	T	0.07800	3.16	2.69	1.6	0.23607	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.384458	0.18663	N	0.134666	T	0.17450	0.0419	M	0.86343	2.81	0.09310	N	1	D	0.53151	0.958	P	0.50405	0.64	T	0.10154	-1.0642	10	0.27082	T	0.32	.	6.7857	0.23672	0.2792:0.7208:0.0:0.0	.	193	Q9NYZ4	SIGL8_HUMAN	R	193	ENSP00000321077:G193R	ENSP00000321077:G193R	G	-	1	0	SIGLEC8	56652683	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.125000	0.15749	0.430000	0.26230	0.502000	0.49764	GGG		0.652	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		111	411	0	0	0	1	0	111	411				
NUMA1	4926	broad.mit.edu	37	11	71735344	71735344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71735344C>T	ENST00000393695.3	-	5	515	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N|NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CACACAAAGTCCAGTCTCTCT	0.468			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(184-186)Gac>Aac		nuclear mitotic apparatus protein 1							116.0	106.0	109.0					11																	71735344		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71735344C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.184G>A	11.37:g.71735344C>T	ENSP00000377298:p.Asp62Asn					NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N|NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N	p.D62N	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			5	515	-			62						Missense_Mutation	SNP	ENST00000393695.3	37	c.184G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447454	0.43429	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394;ENST00000541641	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.84;0.84;0.84;0.84	5.12	2.04	0.26737	.	0.834455	0.11087	N	0.601215	T	0.19485	0.0468	N	0.02916	-0.46	0.24399	N	0.994715	B;B;B;B;B;B	0.30281	0.013;0.275;0.275;0.0;0.001;0.0	B;B;B;B;B;B	0.27076	0.004;0.076;0.076;0.002;0.003;0.001	T	0.19614	-1.0300	10	0.10902	T	0.67	.	8.1203	0.30967	0.0:0.7078:0.0:0.2922	.	62;62;62;62;62;62	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	N	62	ENSP00000260051:D62N;ENSP00000351851:D62N;ENSP00000377298:D62N;ENSP00000444880:D62N;ENSP00000442936:D62N;ENSP00000442761:D62N;ENSP00000439759:D62N;ENSP00000438821:D62N;ENSP00000438589:D62N;ENSP00000439092:D62N;ENSP00000444175:D62N;ENSP00000439576:D62N;ENSP00000357955:D62N;ENSP00000438331:D62N;ENSP00000438318:D62N;ENSP00000441598:D62N	ENSP00000260051:D62N	D	-	1	0	NUMA1	71412992	0.861000	0.29849	0.986000	0.45419	0.966000	0.64601	0.095000	0.15127	0.733000	0.32492	0.655000	0.94253	GAC		0.468	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			81	324	0	0	0	1	0	81	324				
ZNF440	126070	broad.mit.edu	37	19	11942469	11942469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11942469A>G	ENST00000304060.5	+	4	642	c.478A>G	c.(478-480)Aga>Gga	p.R160G		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCTCCTTTAGAACACAAGA	0.413																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(478-480)Aga>Gga		zinc finger protein 440							121.0	124.0	123.0					19																	11942469		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942469A>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.478A>G	19.37:g.11942469A>G	ENSP00000305373:p.Arg160Gly						p.R160G	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	642	+			160					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.478A>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	7.908	0.735858	0.15574	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.29655	1.56;2.37;2.39;5.6	0.724	-1.45	0.08828	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42017	0.1184	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.60173	0.87	T	0.31833	-0.9929	9	0.42905	T	0.14	.	4.0694	0.09876	0.383:0.256:0.361:0.0	.	160	Q8IYI8	ZN440_HUMAN	G	160;38;163;162	ENSP00000305373:R160G;ENSP00000404425:R38G;ENSP00000393489:R163G;ENSP00000411974:R162G	ENSP00000305373:R160G	R	+	1	2	ZNF440	11803469	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.943000	0.03917	-1.616000	0.01572	-1.231000	0.01572	AGA		0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		156	697	0	0	0	1	0	156	697				
AKAP8L	26993	broad.mit.edu	37	19	15508540	15508540	+	Silent	SNP	C	C	T	rs79796304	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15508540C>T	ENST00000397410.5	-	10	1414	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Silent_p.T367T	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	428						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAAAGTCAGCCGTCTGCTTAG	0.502													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		20980	0.0		0.0	False		,,,				2504	0.0					ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1282-1284)acG>acA		A kinase (PRKA) anchor protein 8-like		C		24,3876		0,24,1926	124.0	123.0	123.0		1284	-10.6	0.1	19	dbSNP_132	123	1,8275		0,1,4137	no	coding-synonymous	AKAP8L	NM_014371.2		0,25,6063	TT,TC,CC		0.0121,0.6154,0.2053		428/647	15508540	25,12151	1950	4138	6088	SO:0001819	synonymous_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15508540C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1284G>A	19.37:g.15508540C>T						AKAP8L_ENST00000595465.1_Silent_p.T367T	p.T428T	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			10	1348	-			428					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	c.1284G>A	CCDS46005.1																																																																																				0.502	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		29	364	0	0	0	1	0	29	364				
FER	2241	broad.mit.edu	37	5	108516585	108516585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516585C>T	ENST00000281092.4	+	18	2570	c.2186C>T	c.(2185-2187)cCg>cTg	p.P729L	FER_ENST00000438717.2_Missense_Mutation_p.P554L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	729	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACAGCACCGGAAGCTCTT	0.368																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2185-2187)cCg>cTg		fer (fps/fes related) tyrosine kinase							90.0	86.0	87.0					5																	108516585		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108516585C>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2186C>T	5.37:g.108516585C>T	ENSP00000281092:p.Pro729Leu					FER_ENST00000438717.2_Missense_Mutation_p.P554L	p.P729L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	18	2570	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	729			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2186C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874551	0.91664	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.79749	-1.3;-1.3	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93461	0.6810	10	0.87932	D	0	-15.3907	19.6891	0.95991	0.0:1.0:0.0:0.0	.	729	P16591	FER_HUMAN	L	729;554	ENSP00000281092:P729L;ENSP00000394297:P554L	ENSP00000281092:P729L	P	+	2	0	FER	108544484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.641000	0.89580	0.650000	0.86243	CCG		0.368	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		70	334	0	0	0	1	0	70	334				
SUGP1	57794	broad.mit.edu	37	19	19389537	19389537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19389537C>T	ENST00000247001.5	-	11	1944	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	533					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTTTCCAGCTCGTCTGGAGGC	0.592																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(1597-1599)Gag>Aag		SURP and G patch domain containing 1							43.0	37.0	39.0					19																	19389537		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19389537C>T	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1597G>A	19.37:g.19389537C>T	ENSP00000247001:p.Glu533Lys						p.E533K	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			11	1944	-			533					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1597G>A	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	35	5.525998	0.96431	.	.	ENSG00000105705	ENST00000247001	T	0.32515	1.45	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.56643	-0.7945	10	0.49607	T	0.09	.	17.4482	0.87584	0.0:1.0:0.0:0.0	.	533	Q8IWZ8	SUGP1_HUMAN	K	533	ENSP00000247001:E533K	ENSP00000247001:E533K	E	-	1	0	SUGP1	19250537	1.000000	0.71417	0.948000	0.38648	0.967000	0.64934	7.657000	0.83745	2.458000	0.83093	0.561000	0.74099	GAG		0.592	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		32	130	0	0	0	1	0	32	130				
ZNF492	57615	broad.mit.edu	37	19	22817139	22817139	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22817139G>A	ENST00000456783.2	+	0	14					NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTTGTCTCTCGCTGCAGTCGG	0.602																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21								zinc finger protein 492																																						57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22817139G>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.-231G>A	19.37:g.22817139G>A								NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			0	14	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)						Q08EI7|Q08EI8	Translation_Start_Site	SNP	ENST00000456783.2	37		CCDS46032.1																																																																																				0.602	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		28	119	0	0	0	1	0	28	119				
SLITRK3	22865	broad.mit.edu	37	3	164906549	164906549	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906549G>A	ENST00000475390.1	-	2	2513	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	SLITRK3_ENST00000241274.3_Silent_p.S690S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	690					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTGCCGCTTGCTTCTGAAGG	0.562										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2068-2070)agC>agT		SLIT and NTRK-like family, member 3							90.0	72.0	78.0					3																	164906549		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906549G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2070C>T	3.37:g.164906549G>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.S690S	p.S690S			O94933	SLIK3_HUMAN			2	2513	-			690					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2070C>T	CCDS3197.1																																																																																				0.562	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		57	271	0	0	0	1	0	57	271				
AOC1	26	broad.mit.edu	37	7	150554395	150554395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554395G>A	ENST00000493429.1	+	4	1421	c.837G>A	c.(835-837)ccG>ccA	p.P279P	AOC1_ENST00000360937.4_Silent_p.P279P|AOC1_ENST00000416793.2_Silent_p.P279P|AOC1_ENST00000467291.1_Silent_p.P279P			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	279					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CAGAGGAGCCGCCCCTCTTCT	0.682																																						ENST00000493429.1																			0											c.(835-837)ccG>ccA		amine oxidase, copper containing 1							18.0	22.0	21.0					7																	150554395		1999	4152	6151	SO:0001819	synonymous_variant	26							g.chr7:150554395G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.837G>A	7.37:g.150554395G>A						AOC1_ENST00000467291.1_Silent_p.P279P|AOC1_ENST00000360937.4_Silent_p.P279P|AOC1_ENST00000416793.2_Silent_p.P279P	p.P279P							4	1421	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.837G>A	CCDS43679.1																																																																																				0.682	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		24	98	0	0	0	1	0	24	98				
SH3BP1	23616	broad.mit.edu	37	22	38038957	38038957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38038957G>A	ENST00000357436.4	+	5	653	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SH3BP1_ENST00000599616.1_Missense_Mutation_p.E50K|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATCCTGGCCGAGTTTGAGAT	0.642											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(148-150)Gag>Aag		SH3-domain binding protein 1							63.0	55.0	58.0					22																	38038957		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38038957G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.340G>A	22.37:g.38038957G>A	ENSP00000350018:p.Glu114Lys		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|SH3BP1_ENST00000357436.4_Missense_Mutation_p.E114K|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA	p.E50K			Q9Y3L3	3BP1_HUMAN			3	148	+	Melanoma(58;0.0574)		114			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.148G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099966	0.76983	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.64618	-0.11;-0.11;-0.11	4.51	4.51	0.55191	BAR (2);	0.111773	0.39274	N	0.001419	T	0.70753	0.3260	L	0.43152	1.355	0.42677	D	0.993533	P;D;D;D;D	0.89917	0.763;1.0;0.992;1.0;1.0	B;D;P;D;D	0.69824	0.245;0.966;0.557;0.966;0.966	T	0.68640	-0.5355	10	0.31617	T	0.26	.	15.5694	0.76323	0.0:0.0:1.0:0.0	.	114;28;50;114;28	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	K	114;114;114;28	ENSP00000350018:E114K;ENSP00000337213:E114K;ENSP00000395126:E114K	ENSP00000337213:E114K	E	+	1	0	SH3BP1	36368903	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.545000	0.53648	2.338000	0.79540	0.491000	0.48974	GAG		0.642	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		63	336	0	0	0	1	0	63	336				
HEG1	57493	broad.mit.edu	37	3	124746246	124746246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124746246G>A	ENST00000311127.4	-	3	783	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	239					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAGCCCCATCGCCCTCTCTGT	0.537																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(715-717)gCg>gTg		heart development protein with EGF-like domains 1							63.0	63.0	63.0					3																	124746246		1973	4148	6121	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746246G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.716C>T	3.37:g.124746246G>A	ENSP00000311502:p.Ala239Val						p.A239V	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			3	783	-			239					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.716C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888195	0.17540	.	.	ENSG00000173706	ENST00000311127	T	0.42900	0.96	4.66	-7.15	0.01521	.	.	.	.	.	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15464	-1.0436	9	0.39692	T	0.17	.	3.2358	0.06763	0.1064:0.1681:0.4252:0.3003	.	239;239	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	V	239	ENSP00000311502:A239V	ENSP00000311502:A239V	A	-	2	0	HEG1	126228936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.919000	0.00334	-1.802000	0.01244	-2.159000	0.00328	GCG		0.537	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		26	190	0	0	0	1	0	26	190				
ANKRD18A	253650	broad.mit.edu	37	9	38615926	38615926	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:38615926C>T	ENST00000399703.5	-	2	696		c.e2+1			NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A											NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						CTACTATATACCTTCATTAAA	0.398																																						ENST00000399703.5																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						c.e2+1		ankyrin repeat domain 18A							147.0	115.0	125.0					9																	38615926		692	1591	2283	SO:0001630	splice_region_variant	253650							g.chr9:38615926C>T	AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.321+1G>A	9.37:g.38615926C>T								NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN			2	696	-								A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Splice_Site	SNP	ENST00000399703.5	37		CCDS55311.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836341	0.32421	.	.	ENSG00000180071	ENST00000399703	.	.	.	1.4	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.772	0.34737	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD18A	38605926	1.000000	0.71417	0.107000	0.21349	0.319000	0.28217	5.120000	0.64685	1.086000	0.41228	0.194000	0.17425	.		0.398	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052506.3		Intron	5	28	0	0	0	1	0	5	28				
MTMR4	9110	broad.mit.edu	37	17	56586165	56586165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56586165G>T	ENST00000323456.5	-	6	455	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	111					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCGTGAGAGCCACTCTTGG	0.587																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(331-333)Ctc>Atc		myotubularin related protein 4							55.0	47.0	50.0					17																	56586165		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56586165G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.331C>A	17.37:g.56586165G>T	ENSP00000325285:p.Leu111Ile					MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	p.L111I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			6	455	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		111					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.331C>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942278	0.34283	.	.	ENSG00000108389	ENST00000323456	D	0.82893	-1.66	5.91	4.76	0.60689	.	0.205916	0.42821	D	0.000659	T	0.79293	0.4421	L	0.50333	1.59	0.47547	D	0.999459	P	0.41313	0.745	B	0.39419	0.299	T	0.79988	-0.1571	10	0.44086	T	0.13	.	14.7036	0.69171	0.0825:0.0:0.9175:0.0	.	111	Q9NYA4	MTMR4_HUMAN	I	111	ENSP00000325285:L111I	ENSP00000325285:L111I	L	-	1	0	MTMR4	53941164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.297000	0.51810	2.813000	0.96785	0.655000	0.94253	CTC		0.587	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		51	161	1	0	8.72198e-27	1	1.00714e-26	51	161				
RXFP1	59350	broad.mit.edu	37	4	159566237	159566237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159566237C>T	ENST00000307765.5	+	15	1543	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	RXFP1_ENST00000470033.1_Missense_Mutation_p.P398L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	431					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGCATGCGACCTTATATCAGG	0.378																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1291-1293)cCt>cTt		relaxin/insulin-like family peptide receptor 1							125.0	117.0	120.0					4																	159566237		1880	4119	5999	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159566237C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1292C>T	4.37:g.159566237C>T	ENSP00000303248:p.Pro431Leu					RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P398L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L	p.P431L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	15	1543	+	all_hematologic(180;0.24)	Renal(120;0.0854)	431					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1292C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654980	0.47467	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.76	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.155348	0.64402	D	0.000014	T	0.08223	0.0205	N	0.00991	-1.07	0.50039	D	0.99984	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.001;0.001;0.0;0.002;0.001	T	0.23404	-1.0189	10	0.02654	T	1	.	8.1939	0.31385	0.1294:0.7361:0.0:0.1345	.	442;458;326;383;398;350;301;431	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	350;431;326;383;398;301	ENSP00000423306:P350L;ENSP00000303248:P431L;ENSP00000414885:P326L;ENSP00000345889:P383L;ENSP00000420712:P398L	ENSP00000303248:P431L	P	+	2	0	RXFP1	159785687	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.826000	0.62715	0.767000	0.33267	-0.244000	0.11960	CCT		0.378	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		90	385	0	0	0	1	0	90	385				
CEACAM3	1084	broad.mit.edu	37	19	42301583	42301583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301583C>T	ENST00000357396.3	+	2	368	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	43	Ig-like V-type.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATCCATGCCGCTCAGTGTCGC	0.517																																						ENST00000357396.3																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(127-129)Ctc>Ttc		carcinoembryonic antigen-related cell adhesion molecule 3							158.0	147.0	150.0					19																	42301583		2203	4300	6503	SO:0001583	missense	1084					integral to membrane		g.chr19:42301583C>T	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.127C>T	19.37:g.42301583C>T	ENSP00000349971:p.Leu43Phe					CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F	p.L43F	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			2	368	+			43			Ig-like V-type.		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.127C>T	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	T	4.731	0.136010	0.09032	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.68903	-0.36;-0.36;-0.36	3.44	-6.21	0.02065	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23171	0.0560	N	0.00446	-1.495	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28396	-1.0045	9	0.14656	T	0.56	.	5.5198	0.16925	0.1327:0.5783:0.1335:0.1555	.	43;43	G5E978;P40198	.;CEAM3_HUMAN	F	43	ENSP00000349971:L43F;ENSP00000221999:L43F;ENSP00000341725:L43F	ENSP00000221999:L43F	L	+	1	0	CEACAM3	46993423	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.016000	0.00313	-2.027000	0.00932	-0.439000	0.05793	CTC		0.517	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		175	743	0	0	0	1	0	175	743				
HAUS6	54801	broad.mit.edu	37	9	19050182	19050182	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050182C>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.S175R	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGGTCCAGCATCGTCTACC	0.527																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(523-525)agC>agA		Ras-related GTP binding A							66.0	65.0	65.0					9																	19050182		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050182C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050182C>A							p.S175R	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	811	+			175					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.525C>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064092	0.36373	.	.	ENSG00000155876	ENST00000380527	T	0.64085	-0.08	4.45	-3.64	0.04515	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.69523	2.12	0.54753	D	0.999988	B	0.27765	0.188	B	0.40410	0.328	T	0.55673	-0.8104	10	0.30078	T	0.28	-3.5752	12.9395	0.58335	0.0:0.6573:0.0:0.3427	.	175	Q7L523	RRAGA_HUMAN	R	175	ENSP00000369899:S175R	ENSP00000369899:S175R	S	+	3	2	RRAGA	19040182	0.236000	0.23804	0.953000	0.39169	0.976000	0.68499	-0.468000	0.06656	-0.662000	0.05338	-0.345000	0.07892	AGC		0.527	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		9	167	1	0	1.12685e-05	1	1.15515e-05	9	167				
E2F4	1874	broad.mit.edu	37	16	67229753	67229753	+	Missense_Mutation	SNP	A	A	T	rs1801013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229753A>T	ENST00000379378.3	+	7	936	c.877A>T	c.(877-879)Aca>Tca	p.T293S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	293			T -> P (in dbSNP:rs1801013).		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGCCCAACAACACTGGACAC	0.587																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(877-879)Aca>Tca		E2F transcription factor 4, p107/p130-binding							77.0	71.0	73.0					16																	67229753		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67229753A>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.877A>T	16.37:g.67229753A>T	ENSP00000368686:p.Thr293Ser						p.T293S	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	7	936	+		Ovarian(137;0.0563)	293		T -> P (in dbSNP:rs1801013).			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.877A>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	A	4.392	0.072297	0.08436	.	.	ENSG00000205250	ENST00000379378	D	0.83914	-1.78	4.64	1.54	0.23209	.	0.534717	0.13958	N	0.351005	T	0.47135	0.1429	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48647	-0.9017	10	0.05721	T	0.95	-0.1102	4.5922	0.12313	0.25:0.0:0.5966:0.1534	.	293	Q16254	E2F4_HUMAN	S	293	ENSP00000368686:T293S	ENSP00000368686:T293S	T	+	1	0	E2F4	65787254	0.005000	0.15991	0.091000	0.20842	0.420000	0.31355	1.045000	0.30341	0.182000	0.20032	-0.146000	0.13790	ACA		0.587	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		52	320	0	0	0	1	0	52	320				
ZNF510	22869	broad.mit.edu	37	9	99521177	99521177	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99521177T>C	ENST00000375231.1	-	6	2585	c.1935A>G	c.(1933-1935)atA>atG	p.I645M	ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCTTTGATGTATTCTGAGGT	0.383																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1933-1935)atA>atG		zinc finger protein 510							102.0	110.0	107.0					9																	99521177		2202	4300	6502	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521177T>C	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1935A>G	9.37:g.99521177T>C	ENSP00000364379:p.Ile645Met					ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M	p.I645M			Q9Y2H8	ZN510_HUMAN			6	2585	-		Acute lymphoblastic leukemia(62;0.0527)	645					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.1935A>G	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970517	0.34754	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.18016	2.24;2.24	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	L	0.35249	1.045	0.09310	N	0.999997	P	0.46277	0.875	P	0.44732	0.459	T	0.10660	-1.0620	9	0.45353	T	0.12	.	5.6042	0.17371	0.2439:0.0:0.0:0.7561	.	645	Q9Y2H8	ZN510_HUMAN	M	645	ENSP00000364379:I645M;ENSP00000223428:I645M	ENSP00000223428:I645M	I	-	3	3	ZNF510	98560998	0.000000	0.05858	0.895000	0.35142	0.902000	0.53008	-1.884000	0.01622	1.613000	0.50231	0.533000	0.62120	ATA		0.383	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		124	583	0	0	0	1	0	124	583				
ZBTB34	403341	broad.mit.edu	37	9	129642452	129642452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129642452C>T	ENST00000373452.2	+	1	826	c.762C>T	c.(760-762)gaC>gaT	p.D254D	ZBTB34_ENST00000319119.4_Silent_p.D258D			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D258D(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCTGGGTGACGATGGGTACC	0.557																																						ENST00000319119.4																			1	Substitution - coding silent(1)	p.D258D(1)	upper_aerodigestive_tract(1)	endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(772-774)gaC>gaT		zinc finger and BTB domain containing 34							112.0	119.0	117.0					9																	129642452		2096	4223	6319	SO:0001819	synonymous_variant	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642452C>T	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.762C>T	9.37:g.129642452C>T						ZBTB34_ENST00000373452.2_Silent_p.D254D	p.D258D	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	859	+			254					Q38IA7|Q5VYE9	Silent	SNP	ENST00000373452.2	37	c.774C>T	CCDS48023.1																																																																																				0.557	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		73	437	0	0	0	1	0	73	437				
MLN	4295	broad.mit.edu	37	6	33768931	33768931	+	Missense_Mutation	SNP	G	G	A	rs140882390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33768931G>A	ENST00000430124.2	-	2	75	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	MLN_ENST00000266003.5_Missense_Mutation_p.R4C|MLN_ENST00000507738.1_Missense_Mutation_p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	4					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ACAGCCTTACGGGATACCATC	0.577													G|||	9	0.00179712	0.0	0.0	5008	,	,		21133	0.001		0.001	False		,,,				2504	0.0072					ENST00000430124.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(10-12)Cgt>Tgt		motilin		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	79.0	69.0	73.0		10,10,10	-3.0	0.7	6	dbSNP_134	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	MLN	NM_001040109.1,NM_001184698.1,NM_002418.2	180,180,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	4/115,4/109,4/116	33768931	3,13003	2203	4300	6503	SO:0001583	missense	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33768931G>A		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"""Endogenous ligands"""	7141	protein-coding gene	gene with protein product	"""prepromotilin"""	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.10C>T	6.37:g.33768931G>A	ENSP00000388825:p.Arg4Cys					MLN_ENST00000266003.5_Missense_Mutation_p.R4C|MLN_ENST00000507738.1_Missense_Mutation_p.R4C	p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN			2	75	-			4					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	ENST00000430124.2	37	c.10C>T	CCDS4786.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	12.77	2.039020	0.35989	0.0	3.49E-4	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.49720	0.77;0.77;0.77	5.43	-3.03	0.05429	.	0.976877	0.08403	N	0.951111	T	0.13927	0.0337	L	0.42744	1.35	0.24797	N	0.992721	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.06405	0.001;0.002;0.002	T	0.29640	-1.0005	10	0.52906	T	0.07	-1.6005	1.2522	0.01984	0.4245:0.1104:0.2712:0.1939	.	4;4;4	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	C	4	ENSP00000388825:R4C;ENSP00000266003:R4C;ENSP00000425467:R4C	ENSP00000266003:R4C	R	-	1	0	MLN	33876909	0.003000	0.15002	0.696000	0.30242	0.777000	0.43975	-0.499000	0.06413	-0.404000	0.07610	0.655000	0.94253	CGT		0.577	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4			84	356	0	0	0	1	0	84	356				
AGGF1	55109	broad.mit.edu	37	5	76326595	76326595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76326595G>A	ENST00000312916.7	+	1	386	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	2					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GGAGCTCATGGCCTCGGAGGc	0.741																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(4-6)Gcc>Acc		angiogenic factor with G patch and FHA domains 1							6.0	7.0	7.0					5																	76326595		2086	4002	6088	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76326595G>A	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.4G>A	5.37:g.76326595G>A	ENSP00000316109:p.Ala2Thr					AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T|AGGF1_ENST00000503538.1_Intron	p.A2T	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	1	386	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	2					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.4G>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704739	0.48412	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;D	0.83163	0.86;-1.69	4.04	4.04	0.47022	.	1.581550	0.03952	N	0.288677	D	0.90099	0.6907	L	0.54323	1.7	0.38013	D	0.934595	D;D	0.89917	0.993;1.0	D;D	0.83275	0.977;0.996	T	0.81373	-0.0962	10	0.87932	D	0	-13.0957	11.9022	0.52690	0.0:0.0:1.0:0.0	.	2;2	Q8N302;Q8N302-3	AGGF1_HUMAN;.	T	2	ENSP00000316109:A2T;ENSP00000424733:A2T	ENSP00000316109:A2T	A	+	1	0	AGGF1	76362351	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	4.055000	0.57441	2.258000	0.74832	0.555000	0.69702	GCC		0.741	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		6	60	0	0	0	1	0	6	60				
SLC34A2	10568	broad.mit.edu	37	4	25678117	25678117	+	Missense_Mutation	SNP	G	G	A	rs199853390		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678117G>A	ENST00000382051.3	+	13	1869	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	607					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGATGCCGTCGTCTCCAAGTT	0.647			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1819-1821)Gtc>Atc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							49.0	49.0	49.0					4																	25678117		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678117G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1819G>A	4.37:g.25678117G>A	ENSP00000371483:p.Val607Ile					SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I	p.V607I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1869	+		Breast(46;0.0503)	607					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1819G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.718847	0.00700	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20881	2.04;2.04;2.04	5.48	-8.75	0.00834	.	0.547357	0.21007	N	0.081741	T	0.04092	0.0114	N	0.01535	-0.81	0.09310	N	1	B;B	0.20052	0.041;0.004	B;B	0.19391	0.025;0.004	T	0.24693	-1.0153	10	0.02654	T	1	-15.9216	10.1574	0.42831	0.2074:0.0912:0.6111:0.0903	.	606;607	O95436-2;O95436	.;NPT2B_HUMAN	I	606;607;606	ENSP00000425501:V606I;ENSP00000371483:V607I;ENSP00000423021:V606I	ENSP00000371483:V607I	V	+	1	0	SLC34A2	25287215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.738000	0.04871	-1.512000	0.01791	-2.511000	0.00188	GTC		0.647	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		92	384	0	0	0	1	0	92	384				
FAM9B	171483	broad.mit.edu	37	X	9000434	9000434	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9000434T>C	ENST00000327220.5	-	3	461	c.97A>G	c.(97-99)Act>Gct	p.T33A	FAM9B_ENST00000362066.3_Missense_Mutation_p.T78A|FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	33						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TGCTCATCAGTTACATCTTCC	0.403																																						ENST00000362066.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(232-234)Act>Gct		family with sequence similarity 9, member B							252.0	208.0	223.0					X																	9000434		2203	4300	6503	SO:0001583	missense	171483					nucleus		g.chrX:9000434T>C		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.97A>G	X.37:g.9000434T>C	ENSP00000318716:p.Thr33Ala					FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A|FAM9B_ENST00000327220.5_Missense_Mutation_p.T33A	p.T78A			Q8IZU0	FAM9B_HUMAN			2	420	-		Hepatocellular(5;0.219)	33					Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	c.232A>G	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647061	0.29246	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	T	0.31295	0.0792	L	0.32530	0.975	0.09310	N	1	P;P	0.46578	0.88;0.88	P;P	0.50270	0.636;0.636	T	0.20472	-1.0274	7	0.20519	T	0.43	.	.	.	.	.	33;78	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	A	78;33;33	.	ENSP00000318716:T33A	T	-	1	0	FAM9B	8960434	0.110000	0.22057	0.246000	0.24233	0.246000	0.25737	1.087000	0.30865	0.238000	0.21222	0.235000	0.17854	ACT		0.403	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		214	754	0	0	0	1	0	214	754				
NCBP2	22916	broad.mit.edu	37	3	196666195	196666195	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196666195T>G	ENST00000321256.5	-	2	280	c.187A>C	c.(187-189)Agt>Cgt	p.S63R	NCBP2_ENST00000467803.1_5'Flank|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000422610.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000447325.1_5'UTR|NCBP2_ENST00000427641.2_Intron	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	63	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		ATGTCACCACTTTTGCTGAAG	0.338																																						ENST00000321256.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(187-189)Agt>Cgt		nuclear cap binding protein subunit 2, 20kDa							106.0	100.0	102.0					3																	196666195		2203	4300	6503	SO:0001583	missense	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196666195T>G	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.187A>C	3.37:g.196666195T>G	ENSP00000326806:p.Ser63Arg					NCBP2_ENST00000427641.2_Intron|NCBP2_ENST00000447325.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000422610.1_5'UTR	p.S63R	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	2	280	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		63			RRM.		B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	37	c.187A>C	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747173	0.69418	.	.	ENSG00000114503	ENST00000321256;ENST00000452404	T;T	0.74315	-0.83;-0.83	5.6	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.077733	0.85682	D	0.000000	T	0.79118	0.4392	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.964;0.953;0.969	T	0.80462	-0.1372	10	0.87932	D	0	.	12.4287	0.55561	0.0:0.0:0.1403:0.8597	.	45;82;63	P52298-2;Q7Z3W9;P52298	.;.;NCBP2_HUMAN	R	63;45	ENSP00000326806:S63R;ENSP00000412785:S45R	ENSP00000326806:S63R	S	-	1	0	NCBP2	198150592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.863000	0.39459	1.048000	0.40298	0.459000	0.35465	AGT		0.338	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		60	272	0	0	0	1	0	60	272				
MAP3K14	9020	broad.mit.edu	37	17	43364233	43364233	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43364233C>T	ENST00000344686.2	-	0	822							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCAGTTTCCACACGTGGTTCA	0.612																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							30.0	33.0	32.0					17																	43364233		1935	4121	6056			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43364233C>T	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43364233C>T										Q99558	M3K14_HUMAN			0	822	-								A8K2D8|D3DX67|Q8IYN1	RNA	SNP	ENST00000344686.2	37																																																																																						0.612	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		5	214	0	0	0	1	0	5	214				
UBTD1	80019	broad.mit.edu	37	10	99327681	99327681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99327681G>A	ENST00000370664.3	+	2	417	c.81G>A	c.(79-81)gaG>gaA	p.E27E		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	27										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		GACGCAATGAGCCCCTGAAGA	0.617																																					Pancreas(100;169 2668 32720)	ENST00000370664.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(79-81)gaG>gaA		ubiquitin domain containing 1							60.0	47.0	51.0					10																	99327681		2203	4300	6503	SO:0001819	synonymous_variant	80019							g.chr10:99327681G>A	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.81G>A	10.37:g.99327681G>A							p.E27E	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	2	417	+		Colorectal(252;0.162)	27					D3DR57|Q53HI3	Silent	SNP	ENST00000370664.3	37	c.81G>A	CCDS7465.1																																																																																				0.617	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		61	266	0	0	0	1	0	61	266				
COL6A2	1292	broad.mit.edu	37	21	47552176	47552176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552176G>A	ENST00000300527.4	+	28	2874	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	924	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTGGTGCACGCCATCAATGC	0.667																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2770-2772)Gcc>Acc		collagen, type VI, alpha 2							24.0	26.0	25.0					21																	47552176		2196	4299	6495	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552176G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2770G>A	21.37:g.47552176G>A	ENSP00000300527:p.Ala924Thr						p.A924T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2874	+	Breast(49;0.245)		924			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2770G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713630	0.48517	.	.	ENSG00000142173	ENST00000300527	D	0.82526	-1.62	4.18	4.18	0.49190	von Willebrand factor, type A (3);	0.118916	0.56097	U	0.000030	D	0.83229	0.5209	L	0.57536	1.79	0.80722	D	1	D	0.53619	0.961	P	0.50537	0.643	T	0.80688	-0.1271	10	0.10636	T	0.68	-24.3787	16.5088	0.84279	0.0:0.0:1.0:0.0	.	924	P12110	CO6A2_HUMAN	T	924	ENSP00000300527:A924T	ENSP00000300527:A924T	A	+	1	0	COL6A2	46376604	1.000000	0.71417	0.927000	0.36925	0.019000	0.09904	9.511000	0.98006	1.891000	0.54761	0.313000	0.20887	GCC		0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			19	68	0	0	0	1	0	19	68				
PLXND1	23129	broad.mit.edu	37	3	129305525	129305525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129305525C>T	ENST00000324093.4	-	3	1704	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R509Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	509	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCACCACCCGCCTGCTCAC	0.612																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(1525-1527)cGg>cAg		plexin D1							88.0	59.0	69.0					3																	129305525		2202	4297	6499	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129305525C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1526G>A	3.37:g.129305525C>T	ENSP00000317128:p.Arg509Gln					PLXND1_ENST00000324093.4_Missense_Mutation_p.R509Q	p.R509Q			Q9Y4D7	PLXD1_HUMAN			3	1704	-			509			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1526G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589062	0.28357	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.10477	2.87;2.87;3.59	4.22	0.67	0.17923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.517808	0.18328	N	0.144595	T	0.04724	0.0128	N	0.12182	0.205	0.09310	N	1	B	0.33940	0.433	B	0.27796	0.083	T	0.38520	-0.9657	10	0.37606	T	0.19	.	7.5175	0.27608	0.0:0.4374:0.0:0.5626	.	509	Q9Y4D7	PLXD1_HUMAN	Q	509;509;72	ENSP00000317128:R509Q;ENSP00000376931:R509Q;ENSP00000426241:R72Q	ENSP00000317128:R509Q	R	-	2	0	PLXND1	130788215	0.033000	0.19621	0.016000	0.15963	0.772000	0.43724	0.364000	0.20325	0.225000	0.20959	0.407000	0.27541	CGG		0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		7	28	0	0	0	1	0	7	28				
ROR2	4920	broad.mit.edu	37	9	94486500	94486500	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486500G>A	ENST00000375708.3	-	9	2474	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	ROR2_ENST00000375715.1_Missense_Mutation_p.A619V|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	759	Ser/Thr-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGAGGTCTGCGCCGAGCTGTT	0.652																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2275-2277)gCg>gTg		receptor tyrosine kinase-like orphan receptor 2							51.0	54.0	53.0					9																	94486500		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486500G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2276C>T	9.37:g.94486500G>A	ENSP00000364860:p.Ala759Val					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.A619V	p.A759V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2474	-			759			Ser/Thr-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2276C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712035	0.30322	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.78126	-1.11;-1.15	4.65	3.75	0.43078	.	0.000000	0.41823	D	0.000803	T	0.79718	0.4494	L	0.27053	0.805	0.45791	D	0.998677	D;P	0.89917	1.0;0.932	D;B	0.75484	0.986;0.186	T	0.76631	-0.2888	10	0.24483	T	0.36	.	15.0704	0.72030	0.0:0.142:0.858:0.0	.	759;619	Q01974;B1APY4	ROR2_HUMAN;.	V	619;759	ENSP00000364867:A619V;ENSP00000364860:A759V	ENSP00000364860:A759V	A	-	2	0	ROR2	93526321	0.954000	0.32549	0.971000	0.41717	0.674000	0.39518	3.769000	0.55303	1.173000	0.42796	0.561000	0.74099	GCG		0.652	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			67	375	0	0	0	1	0	67	375				
SLC39A4	55630	broad.mit.edu	37	8	145641572	145641572	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145641572A>G	ENST00000276833.5	-	1	324	c.21T>C	c.(19-21)ctT>ctC	p.L7L	SLC39A4_ENST00000301305.3_Intron|SLC39A4_ENST00000531013.1_5'Flank	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TTTCCCTTTCAAGTCCAACAA	0.672																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(19-21)ctT>ctC		solute carrier family 39 (zinc transporter), member 4							29.0	36.0	34.0					8																	145641572		2009	4165	6174	SO:0001819	synonymous_variant	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145641572A>G	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000276833.5:c.21T>C	8.37:g.145641572A>G						SLC39A4_ENST00000301305.3_Intron	p.L7L	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		1	324	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	ENST00000276833.5	37	c.21T>C	CCDS43782.1																																																																																				0.672	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382687.2			7	48	0	0	0	1	0	7	48				
ZNF480	147657	broad.mit.edu	37	19	52825188	52825188	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825188A>C	ENST00000595962.1	+	5	751	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TACTGTAGAGAAACCTTACAA	0.358																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(685-687)Aaa>Caa		zinc finger protein 480							55.0	56.0	56.0					19																	52825188		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825188A>C	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.685A>C	19.37:g.52825188A>C	ENSP00000471754:p.Lys229Gln					ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q	p.K229Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	751	+			229					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.685A>C	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852413	0.32699	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.27104	1.69;1.69;1.69	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43344	0.1243	M	0.88031	2.925	0.23542	N	0.997456	D;P	0.57257	0.979;0.638	P;B	0.51777	0.679;0.15	T	0.32214	-0.9915	9	0.87932	D	0	.	7.566	0.27879	1.0:0.0:0.0:0.0	.	186;229	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Q	229;186;152	ENSP00000417424:K229Q;ENSP00000334164:K186Q;ENSP00000335670:K152Q	ENSP00000334164:K186Q	K	+	1	0	ZNF480	57517000	0.333000	0.24731	0.044000	0.18714	0.055000	0.15305	2.755000	0.47540	0.894000	0.36317	0.383000	0.25322	AAA		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		65	277	0	0	0	1	0	65	277				
TACC1	6867	broad.mit.edu	37	8	38677324	38677324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677324C>T	ENST00000317827.4	+	3	941	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.P188S|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000443286.2_Missense_Mutation_p.P204S|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	188	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TTCCAGCCCGCCAGACGCCCT	0.582																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(562-564)Cca>Tca		transforming, acidic coiled-coil containing protein 1							57.0	61.0	60.0					8																	38677324		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677324C>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.562C>T	8.37:g.38677324C>T	ENSP00000321703:p.Pro188Ser					TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.P204S|TACC1_ENST00000317827.4_Missense_Mutation_p.P188S|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron	p.P188S			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	941	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	188			Interaction with TDRD7.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.562C>T	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	0.376	-0.931298	0.02359	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.11604	2.95;2.91;2.76;3.0;3.01	4.76	1.72	0.24424	.	0.465646	0.19722	N	0.107580	T	0.04003	0.0112	N	0.11560	0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36407	-0.9749	10	0.23891	T	0.37	-1.0066	0.6547	0.00832	0.1877:0.3759:0.1825:0.2539	.	204;188;143	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	S	204;143;160;188;188	ENSP00000393647:P204S;ENSP00000428706:P143S;ENSP00000430355:P160S;ENSP00000321703:P188S;ENSP00000369263:P188S	ENSP00000321703:P188S	P	+	1	0	TACC1	38796481	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.160000	0.16462	0.599000	0.29845	-1.259000	0.01468	CCA		0.582	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		96	392	0	0	0	1	0	96	392				
TRIO	7204	broad.mit.edu	37	5	14485348	14485348	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485348T>G	ENST00000344204.4	+	47	6852	c.6828T>G	c.(6826-6828)ttT>ttG	p.F2276L	TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2276					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCGCAATTTTTTAAATGGTA	0.383																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6826-6828)ttT>ttG		trio Rho guanine nucleotide exchange factor							66.0	69.0	68.0					5																	14485348		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485348T>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6828T>G	5.37:g.14485348T>G	ENSP00000339299:p.Phe2276Leu					TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	p.F2276L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			47	6852	+	Lung NSC(4;0.000742)		2276					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6828T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199716	0.58126	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.39229	1.09;1.09	5.34	5.34	0.76211	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.64080	1.96	0.47374	D	0.999408	D;D	0.64830	0.994;0.992	P;D	0.69654	0.855;0.965	T	0.52540	-0.8562	10	0.11794	T	0.64	.	11.2948	0.49272	0.0:0.073:0.0:0.927	.	2276;2276	O75962-5;O75962	.;TRIO_HUMAN	L	2276;2276;1963	ENSP00000339299:F2276L;ENSP00000446348:F2276L	ENSP00000339299:F2276L	F	+	3	2	TRIO	14538348	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	2.046000	0.41260	2.023000	0.59567	0.528000	0.53228	TTT		0.383	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		81	322	0	0	0	1	0	81	322				
HPS4	89781	broad.mit.edu	37	22	26854526	26854526	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26854526A>C	ENST00000398145.2	-	12	2347	c.1731T>G	c.(1729-1731)gcT>gcG	p.A577A	HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000398141.1_Silent_p.A590A|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Silent_p.A572A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	577					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CATTCAGTGAAGCCAGGCTGC	0.552									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1729-1731)gcT>gcG		Hermansky-Pudlak syndrome 4							68.0	54.0	59.0					22																	26854526		2203	4300	6503	SO:0001819	synonymous_variant	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26854526A>C		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1731T>G	22.37:g.26854526A>C						HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000402105.3_Silent_p.A572A|HPS4_ENST00000398141.1_Silent_p.A590A|HPS4_ENST00000493455.2_5'UTR	p.A577A	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			12	2347	-			577					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	c.1731T>G	CCDS13835.1																																																																																				0.552	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		24	159	0	0	0	1	0	24	159				
PARD3	56288	broad.mit.edu	37	10	34649102	34649102	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34649102G>T	ENST00000374789.3	-	13	2118	c.1793C>A	c.(1792-1794)tCt>tAt	p.S598Y	PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y|PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	598	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAGGCCTGCAGATCCTGAATC	0.428																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1792-1794)tCt>tAt		par-3 family cell polarity regulator							141.0	128.0	132.0					10																	34649102		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34649102G>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1793C>A	10.37:g.34649102G>T	ENSP00000363921:p.Ser598Tyr					PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y	p.S598Y	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			13	2118	-		Breast(68;0.0707)	598			PDZ 3.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1793C>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632542	0.87660	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.95	5.95	0.96441	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;0.998;0.93;1.0;1.0;0.994;1.0;1.0;0.991	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.97110	0.999;0.991;0.998;0.999;0.998;0.999;0.999;0.99;0.677;0.999;1.0;0.981;0.993;1.0;0.957	T	0.48502	-0.9030	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	541;541;585;585;585;598;598;598;541;585;598;598;585;598;315	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	Y	585;541;598;598;598;541;585;541;585;598;598;315;36	ENSP00000443147:S585Y;ENSP00000440857:S541Y;ENSP00000363921:S598Y;ENSP00000363920:S598Y;ENSP00000340591:S598Y;ENSP00000363926:S541Y;ENSP00000311986:S585Y;ENSP00000363922:S541Y;ENSP00000363908:S585Y;ENSP00000341844:S598Y;ENSP00000363905:S598Y;ENSP00000444429:S315Y;ENSP00000363900:S36Y	ENSP00000341844:S598Y	S	-	2	0	PARD3	34689108	1.000000	0.71417	0.982000	0.44146	0.601000	0.36947	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	TCT		0.428	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		9	524	1	0	1.12685e-05	1	1.15515e-05	9	524				
ZNF619	285267	broad.mit.edu	37	3	40524102	40524102	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40524102G>T	ENST00000314686.5	+	4	509	c.104G>T	c.(103-105)aGa>aTa	p.R35I	ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000447116.2_Missense_Mutation_p.D108Y			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCAAACCAGATCTGATATT	0.532																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(322-324)Gat>Tat		zinc finger protein 619							143.0	138.0	140.0					3																	40524102		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40524102G>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.104G>T	3.37:g.40524102G>T	ENSP00000322529:p.Arg35Ile					ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000314686.5_Missense_Mutation_p.R35I|ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y	p.D108Y	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	5	629	+			108					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.322G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.442|8.442	0.851048|0.851048	0.17034|0.17034	.|.	.|.	ENSG00000177873|ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000456778;ENST00000521353;ENST00000432264|ENST00000314686;ENST00000522736	T;T;T;T;T|T;T	0.42900|0.08282	3.3;0.96;3.2;3.3;0.96|3.12;3.11	3.4|3.4	1.53|1.53	0.23141|0.23141	.|.	.|.	.|.	.|.	.|.	T|T	0.06690|0.06690	0.0171|0.0171	L|L	0.45581|0.45581	1.43|1.43	0.21897|0.21897	N|N	0.999483|0.999483	P;P;P;P|P;P	0.40476|0.40476	0.561;0.561;0.718;0.718|0.718;0.718	B;B;B;B|B;B	0.34242|0.31245	0.128;0.088;0.124;0.178|0.126;0.126	T|T	0.30822|0.30822	-0.9965|-0.9965	9|9	0.62326|0.72032	D|D	0.03|0.01	.|.	6.2387|6.2387	0.20778|0.20778	0.1161:0.1962:0.6877:0.0|0.1161:0.1962:0.6877:0.0	.|.	24;68;108;10|35;35	B4E271;C9JRN5;E9PCD9;B7Z9B3|Q17RW3;Q8N2I2	.;.;.;.|.;ZN619_HUMAN	Y|I	108;68;24;108;68|35	ENSP00000411132:D108Y;ENSP00000398024:D68Y;ENSP00000397232:D24Y;ENSP00000430705:D108Y;ENSP00000388710:D68Y|ENSP00000322529:R35I;ENSP00000428004:R35I	ENSP00000398024:D68Y|ENSP00000322529:R35I	D|R	+|+	1|2	0|0	ZNF619|ZNF619	40499106|40499106	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.075000|0.075000	0.17131|0.17131	0.160000|0.160000	0.16462|0.16462	0.770000|0.770000	0.33336|0.33336	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.532	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		135	611	1	0	3.36649e-63	1	4.24766e-63	135	611				
SCRT2	85508	broad.mit.edu	37	20	644759	644759	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:644759G>A	ENST00000246104.6	-	2	1057	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	160					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						AGGTCTTGCCGCACTCGGCGC	0.791																																						ENST00000246104.6																			0				kidney(1)|liver(1)|ovary(1)	3						c.(478-480)tgC>tgT		scratch family zinc finger 2							17.0	16.0	16.0					20																	644759		2195	4293	6488	SO:0001819	synonymous_variant	85508				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:644759G>A		CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.480C>T	20.37:g.644759G>A						RP5-850E9.3_ENST00000488788.2_Intron	p.C160C	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN			2	1057	-			160						Silent	SNP	ENST00000246104.6	37	c.480C>T	CCDS13006.1																																																																																				0.791	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	NM_033129		29	125	0	0	0	1	0	29	125				
SLK	9748	broad.mit.edu	37	10	105779604	105779604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105779604G>A	ENST00000369755.3	+	16	3790	c.3245G>A	c.(3244-3246)cGa>cAa	p.R1082Q	SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1082					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCAAGACTCGAATGGCCATG	0.403																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(3244-3246)cGa>cAa		STE20-like kinase							116.0	115.0	116.0					10																	105779604		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105779604G>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3245G>A	10.37:g.105779604G>A	ENSP00000358770:p.Arg1082Gln					SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	p.R1082Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	16	3790	+		Colorectal(252;0.178)	1082					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3245G>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	36	5.906712	0.97093	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.34472	1.36;1.36	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72792	-0.4186	10	0.87932	D	0	.	19.8949	0.96954	0.0:0.0:1.0:0.0	.	1051;1082	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	1051;1082	ENSP00000336824:R1051Q;ENSP00000358770:R1082Q	ENSP00000336824:R1051Q	R	+	2	0	SLK	105769594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.712000	0.92718	0.484000	0.47621	CGA		0.403	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		126	549	0	0	0	1	0	126	549				
ANK2	287	broad.mit.edu	37	4	114257193	114257193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114257193C>T	ENST00000357077.4	+	30	3624	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W	ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W|ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1191	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R1191W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTCACCAAGCGGATCCGCGT	0.507																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.R1191W(1)	NS(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3571-3573)Cgg>Tgg		ankyrin 2, neuronal							74.0	74.0	74.0					4																	114257193		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114257193C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3571C>T	4.37:g.114257193C>T	ENSP00000349588:p.Arg1191Trp					ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W|ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W	p.R1191W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	30	3624	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1158					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3571C>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911636|3.911636	0.72983|0.72983	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T	.|0.74315	.|-0.83;-0.83;-0.83;-0.83;-0.39;-0.4;-0.83	5.27|5.27	1.04|1.04	0.20106|0.20106	.|.	.|0.000000	.|0.44688	.|D	.|0.000439	D|D	0.84311|0.84311	0.5444|0.5444	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D;D;D	.|0.87578	.|0.969;0.994;0.969;0.982;0.998;0.967;0.975	D|D	0.85192|0.85192	0.1010|0.1010	5|9	.|.	.|.	.|.	.|.	16.0621|16.0621	0.80843|0.80843	0.6236:0.3764:0.0:0.0|0.6236:0.3764:0.0:0.0	.|.	.|367;1158;203;1191;1191;1182;1182	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	V|W	203|1104;1182;237;1206;1191;1191;1158;1182;367	.|ENSP00000421011:R1104W;ENSP00000421067:R1182W;ENSP00000424722:R1206W;ENSP00000378044:R1191W;ENSP00000349588:R1191W;ENSP00000264366:R1158W;ENSP00000426944:R367W	.|.	A|R	+|+	2|1	0|2	ANK2|ANK2	114476642|114476642	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	0.448000|0.448000	0.21726|0.21726	0.559000|0.559000	0.29153|0.29153	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		28	356	0	0	0	1	0	28	356				
MEI1	150365	broad.mit.edu	37	22	42128519	42128519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128519G>T	ENST00000401548.3	+	11	1283	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGTGCAGAGATGCTGGCCG	0.552																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1243-1245)Gat>Tat		meiosis inhibitor 1							71.0	73.0	72.0					22																	42128519		2106	4238	6344	SO:0001583	missense	150365						binding	g.chr22:42128519G>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1243G>T	22.37:g.42128519G>T	ENSP00000384115:p.Asp415Tyr					MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	p.D415Y	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			11	1283	+			415						Missense_Mutation	SNP	ENST00000401548.3	37	c.1243G>T	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460093	0.63401	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.47528	1.83;0.84	5.74	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.576504	0.18549	N	0.137954	T	0.56645	0.1999	L	0.56769	1.78	0.80722	D	1	P;D	0.60575	0.955;0.988	P;P	0.58873	0.66;0.847	T	0.58317	-0.7657	10	0.66056	D	0.02	-6.4029	7.1383	0.25541	0.1467:0.0:0.7135:0.1399	.	415;415	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	Y	415;155	ENSP00000384115:D415Y;ENSP00000444225:D155Y	ENSP00000384115:D415Y	D	+	1	0	MEI1	40458465	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	2.702000	0.47102	1.410000	0.46936	0.563000	0.77884	GAT		0.552	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		42	216	1	0	8.20599e-20	1	9.16906e-20	42	216				
LCT	3938	broad.mit.edu	37	2	136567505	136567505	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136567505G>A	ENST00000264162.2	-	8	2422	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	804	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGCCTTCGAAGCCATCAATGA	0.443																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2410-2412)ggC>ggT		lactase							63.0	64.0	64.0					2																	136567505		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567505G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2412C>T	2.37:g.136567505G>A							p.G804G	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2422	-			804			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.2412C>T	CCDS2178.1																																																																																				0.443	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		127	351	0	0	0	1	0	127	351				
EXOSC6	118460	broad.mit.edu	37	16	70287683	70287683	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70287683C>A	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Missense_Mutation_p.Q847H	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TGTCGATGAACTGCTTCGTCT	0.602											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2539-2541)caG>caT		alanyl-tRNA synthetase	L-Alanine(DB00160)						89.0	93.0	91.0					16																	70287683		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70287683C>A	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287683C>A	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.Q847H	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	19	2684	-		Ovarian(137;0.0365)	847						Missense_Mutation	SNP	ENST00000435634.1	37	c.2541G>T	CCDS10887.1	.	.	.	.	.	.	.	.	.	.	c	8.936	0.964637	0.18583	.	.	ENSG00000090861	ENST00000261772	T	0.64618	-0.11	5.39	4.44	0.53790	.	0.111909	0.64402	D	0.000009	T	0.49779	0.1577	L	0.29908	0.895	0.50467	D	0.999875	P;P	0.37997	0.614;0.614	B;B	0.39738	0.308;0.252	T	0.51466	-0.8702	10	0.54805	T	0.06	-19.1979	8.2528	0.31737	0.0:0.821:0.0:0.179	.	855;847	E7ETK8;P49588	.;SYAC_HUMAN	H	847	ENSP00000261772:Q847H	ENSP00000261772:Q847H	Q	-	3	2	AARS	68845184	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.955000	0.49121	1.284000	0.44531	0.655000	0.94253	CAG		0.602	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		17	371	1	0	9.16793e-09	1	9.60025e-09	17	371				
RBFA	79863	broad.mit.edu	37	18	77798535	77798535	+	Nonsense_Mutation	SNP	C	C	T	rs200502345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77798535C>T	ENST00000306735.5	+	4	547	c.409C>T	c.(409-411)Cga>Tga	p.R137*	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Nonsense_Mutation_p.R137*|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	137					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCAGCCTGCCGAGCGTACTG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		17419	0.001		0.0	False		,,,				2504	0.0					ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(409-411)Cga>Tga		ribosome binding factor A (putative)							99.0	98.0	98.0					18																	77798535		2203	4300	6503	SO:0001587	stop_gained	79863				rRNA processing	mitochondrion		g.chr18:77798535C>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.409C>T	18.37:g.77798535C>T	ENSP00000305696:p.Arg137*					RBFA_ENST00000262197.7_Nonsense_Mutation_p.R137*|RBFADN_ENST00000569722.1_Intron	p.R137*	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			4	547	+			137					Q6PF07|Q8WZ65|Q9H776	Nonsense_Mutation	SNP	ENST00000306735.5	37	c.409C>T	CCDS12021.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	38	7.251414	0.98164	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	.	.	.	4.68	4.68	0.58851	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3279	16.3814	0.83462	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000262197:R137X	R	+	1	2	RBFA	75899523	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	4.188000	0.58351	2.144000	0.66660	0.561000	0.74099	CGA		0.542	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		42	463	0	0	0	1	0	42	463				
ZNF212	7988	broad.mit.edu	37	7	148951066	148951066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148951066G>T	ENST00000335870.2	+	5	1176	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGAGGAGCCAGAGGAGAGCCT	0.572																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(1048-1050)Gag>Tag		zinc finger protein 212							43.0	39.0	40.0					7																	148951066		2203	4300	6503	SO:0001587	stop_gained	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148951066G>T	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.1048G>T	7.37:g.148951066G>T	ENSP00000338572:p.Glu350*						p.E350*	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		5	1176	+	Melanoma(164;0.15)		350					B2RCF4|Q13396|Q8N664	Nonsense_Mutation	SNP	ENST00000335870.2	37	c.1048G>T	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011410	0.54468	.	.	ENSG00000170260	ENST00000335870	.	.	.	4.99	3.18	0.36537	.	0.811066	0.10930	N	0.618502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.6687	9.7827	0.40658	0.1718:0.0:0.8282:0.0	.	.	.	.	X	350	.	ENSP00000338572:E350X	E	+	1	0	ZNF212	148581999	0.733000	0.28132	0.314000	0.25224	0.078000	0.17371	3.391000	0.52530	0.618000	0.30179	0.561000	0.74099	GAG		0.572	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		32	116	1	0	8.4185e-14	1	9.11178e-14	32	116				
PIWIL2	55124	broad.mit.edu	37	8	22140627	22140627	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22140627A>C	ENST00000454009.2	+	5	1015	c.506A>C	c.(505-507)aAg>aCg	p.K169T	PIWIL2_ENST00000356766.6_Missense_Mutation_p.K169T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.K169T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	169					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)		GAAGTGGACAAGCCTCCCTGT	0.587																																						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.(505-507)aAg>aCg		piwi-like RNA-mediated gene silencing 2							92.0	80.0	84.0					8																	22140627		2203	4300	6503	SO:0001583	missense	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.chr8:22140627A>C	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.506A>C	8.37:g.22140627A>C	ENSP00000406956:p.Lys169Thr					PIWIL2_ENST00000521356.1_Missense_Mutation_p.K169T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.K169T	p.K169T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	5	654	+			169					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.506A>C	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829594	0.32329	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04970	3.53;3.52;3.53	5.52	3.12	0.35913	.	0.889113	0.09620	N	0.777691	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.01	T	0.48340	-0.9044	10	0.16420	T	0.52	-20.0075	6.8642	0.24084	0.8062:0.0:0.1938:0.0	.	169;169	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	169	ENSP00000349208:K169T;ENSP00000428267:K169T;ENSP00000406956:K169T	ENSP00000349208:K169T	K	+	2	0	PIWIL2	22196572	0.376000	0.25098	0.218000	0.23776	0.121000	0.20230	1.893000	0.39758	0.472000	0.27344	-0.263000	0.10527	AAG		0.587	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			45	241	0	0	0	1	0	45	241				
COL25A1	84570	broad.mit.edu	37	4	109773399	109773399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109773399C>T	ENST00000399132.1	-	26	1912	c.1382G>A	c.(1381-1383)gGg>gAg	p.G461E	COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E|COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTTTGGCCCTTGTAGTCC	0.338																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1381-1383)gGg>gAg		collagen, type XXV, alpha 1							83.0	82.0	82.0					4																	109773399		1827	4087	5914	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109773399C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1382G>A	4.37:g.109773399C>T	ENSP00000382083:p.Gly461Glu					COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E|COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E	p.G461E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	26	1912	-		Hepatocellular(203;0.217)	461			Collagen-like 6.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1382G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406093	0.62288	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99353	-5.77;-5.77;-5.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.97240	3.965	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97499	1.0059	9	.	.	.	-5.6076	19.3463	0.94363	0.0:1.0:0.0:0.0	.	461;461	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	461;463;442;434;461;391	ENSP00000382083:G461E;ENSP00000382078:G434E;ENSP00000382077:G461E	.	G	-	2	0	COL25A1	109992848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.922000	0.70036	2.659000	0.90383	0.650000	0.86243	GGG		0.338	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		38	207	0	0	0	1	0	38	207				
PFAS	5198	broad.mit.edu	37	17	8168671	8168671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168671G>A	ENST00000314666.6	+	19	2479	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	PFAS_ENST00000545834.1_Silent_p.A358A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	782					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAGCTTTGGCGGATGCCTGTG	0.627																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2344-2346)gcG>gcA		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						78.0	85.0	83.0					17																	8168671		2203	4300	6503	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8168671G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2346G>A	17.37:g.8168671G>A						PFAS_ENST00000545834.1_Silent_p.A358A	p.A782A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			19	2479	+			782					A6H8V8	Silent	SNP	ENST00000314666.6	37	c.2346G>A	CCDS11136.1																																																																																				0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			111	466	0	0	0	1	0	111	466				
SALL4	57167	broad.mit.edu	37	20	50405478	50405478	+	Silent	SNP	G	G	A	rs11698418	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405478G>A	ENST00000217086.4	-	3	2775	c.2664C>T	c.(2662-2664)caC>caT	p.H888H	SALL4_ENST00000371539.3_Silent_p.H111H|SALL4_ENST00000395997.3_Silent_p.H451H	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	888			H -> R (in DRRS). {ECO:0000269|PubMed:16402211}.		embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCCGCTCGTGGATCTGAA	0.542													G|||	4	0.000798722	0.0023	0.0	5008	,	,		18547	0.0		0.001	False		,,,				2504	0.0					ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2662-2664)caC>caT		spalt-like transcription factor 4		G		1,4405	2.1+/-5.4	0,1,2202	85.0	73.0	77.0		2664	-4.4	0.9	20	dbSNP_120	77	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SALL4	NM_020436.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		888/1054	50405478	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50405478G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2664C>T	20.37:g.50405478G>A						SALL4_ENST00000371539.3_Silent_p.H111H|SALL4_ENST00000395997.3_Silent_p.H451H	p.H888H	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			3	2775	-			888		H -> R (in DRRS).			A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.2664C>T	CCDS13438.1																																																																																				0.542	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			71	306	0	0	0	1	0	71	306				
DZIP1	22873	broad.mit.edu	37	13	96285517	96285517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96285517C>A	ENST00000376829.2	-	6	1507	c.656G>T	c.(655-657)cGc>cTc	p.R219L	DZIP1_ENST00000361396.2_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L|DZIP1_ENST00000347108.3_Missense_Mutation_p.R219L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	219					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGTGTGGCGGCGTTGAATGTG	0.408																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(655-657)cGc>cTc		DAZ interacting zinc finger protein 1							112.0	106.0	108.0					13																	96285517		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96285517C>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.656G>T	13.37:g.96285517C>A	ENSP00000366025:p.Arg219Leu					DZIP1_ENST00000361396.2_Missense_Mutation_p.R219L|DZIP1_ENST00000376829.2_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L	p.R219L			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		4	1088	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		219					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.656G>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437293	0.83885	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.08	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.79475	2.455	0.46011	D	0.99881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.985	T	0.76285	-0.3015	10	0.87932	D	0	-7.4353	13.7411	0.62849	0.0:0.9252:0.0:0.0748	.	219;219;219	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	L	219	ENSP00000257312:R219L;ENSP00000355018:R219L;ENSP00000355175:R219L;ENSP00000366025:R219L	ENSP00000257312:R219L	R	-	2	0	DZIP1	95083518	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.759000	0.74934	1.283000	0.44513	0.561000	0.74099	CGC		0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		21	238	1	0	3.62473e-10	1	3.83521e-10	21	238				
MEX3B	84206	broad.mit.edu	37	15	82336392	82336392	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82336392C>T	ENST00000329713.4	-	2	1254	c.819G>A	c.(817-819)acG>acA	p.T273T	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	273					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGGGGGTGGGCGTGATGCTGG	0.652																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(817-819)acG>acA		mex-3 RNA binding family member B							21.0	25.0	23.0					15																	82336392		2197	4286	6483	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336392C>T	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.819G>A	15.37:g.82336392C>T						MEX3B_ENST00000558133.1_3'UTR	p.T273T	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1254	-			273					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.819G>A	CCDS10319.1																																																																																				0.652	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		11	271	0	0	0	1	0	11	271				
MOV10	4343	broad.mit.edu	37	1	113239108	113239108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113239108G>A	ENST00000413052.2	+	13	2323	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	MOV10_ENST00000369644.1_Missense_Mutation_p.D589N|MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.D645N	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	645					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATCTTCATCGATGAGGCTGG	0.572																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1765-1767)Gat>Aat		Mov10, Moloney leukemia virus 10, homolog (mouse)							112.0	103.0	106.0					1																	113239108		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113239108G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1933G>A	1.37:g.113239108G>A	ENSP00000399797:p.Asp645Asn					MOV10_ENST00000357443.2_Missense_Mutation_p.D645N|MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.D645N	p.D589N			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	14	2794	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	645					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1765G>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658653	0.96734	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97229	0.9883	10	0.87932	D	0	-15.6343	18.4724	0.90779	0.0:0.0:1.0:0.0	.	645	Q9HCE1	MOV10_HUMAN	N	645;645;589;645;583	ENSP00000399797:D645N;ENSP00000358659:D645N;ENSP00000358658:D589N;ENSP00000350028:D645N	ENSP00000350028:D645N	D	+	1	0	MOV10	113040631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.147000	0.94646	2.680000	0.91292	0.655000	0.94253	GAT		0.572	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		59	490	0	0	0	1	0	59	490				
WWC1	23286	broad.mit.edu	37	5	167882444	167882444	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167882444C>A	ENST00000265293.4	+	19	3244	c.2742C>A	c.(2740-2742)tcC>tcA	p.S914S	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.S914S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	914	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACCCCGTCCCAGGGGCCAT	0.632																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2740-2742)tcC>tcA		WW and C2 domain containing 1							101.0	105.0	104.0					5																	167882444		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167882444C>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2742C>A	5.37:g.167882444C>A						WWC1_ENST00000521089.1_Silent_p.S914S|WWC1_ENST00000522140.1_3'UTR	p.S914S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	19	3244	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	914			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.2742C>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.291924	0.01375	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.46	-2.98	0.05513	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	.	0.9385	0.01350	0.2684:0.2673:0.2657:0.1986	.	.	.	.	T	876;691	.	.	P	+	1	0	WWC1	167815022	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.200000	0.01237	-0.511000	0.06514	-0.768000	0.03414	CCA		0.632	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		163	705	1	0	6.23011e-66	1	7.88058e-66	163	705				
IKBKE	9641	broad.mit.edu	37	1	206647703	206647703	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206647703C>A	ENST00000367120.3	+	4	490	c.117C>A	c.(115-117)gtC>gtA	p.V39V	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	39	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTGTGAAGGTCTTCAACACTA	0.582																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(115-117)gtC>gtA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							82.0	68.0	73.0					1																	206647703		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206647703C>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.117C>A	1.37:g.206647703C>A						IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_5'UTR	p.V39V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			4	490	+	Breast(84;0.137)		39			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	c.117C>A	CCDS30996.1																																																																																				0.582	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			60	284	1	0	5.5144e-22	1	6.22847e-22	60	284				
ARSH	347527	broad.mit.edu	37	X	2945456	2945456	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2945456G>T	ENST00000381130.2	+	7	1139	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	380					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAGCCCACCAGCTTAATGGAC	0.522																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1138-1140)aGc>aTc		arylsulfatase family, member H							179.0	136.0	150.0					X																	2945456		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2945456G>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1139G>T	X.37:g.2945456G>T	ENSP00000370522:p.Ser380Ile						p.S380I	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			7	1139	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	380						Missense_Mutation	SNP	ENST00000381130.2	37	c.1139G>T	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349061	0.41599	.	.	ENSG00000205667	ENST00000381130	D	0.99194	-5.54	3.4	3.4	0.38934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.99118	0.9696	M	0.78456	2.415	0.47994	D	0.99956	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.66056	D	0.02	.	14.2922	0.66286	0.0:0.0:1.0:0.0	.	380	Q5FYA8	ARSH_HUMAN	I	380	ENSP00000370522:S380I	ENSP00000370522:S380I	S	+	2	0	ARSH	2955456	1.000000	0.71417	0.009000	0.14445	0.010000	0.07245	7.968000	0.87980	1.328000	0.45358	0.596000	0.82720	AGC		0.522	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		47	297	1	0	1.19451e-25	1	1.37202e-25	47	297				
C7orf31	136895	broad.mit.edu	37	7	25181949	25181949	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25181949G>T	ENST00000409280.1	-	9	1170	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	288										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGGGCCCCAGACCTTAATGG	0.393																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(862-864)Ctg>Atg		chromosome 7 open reading frame 31							87.0	78.0	81.0					7																	25181949		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25181949G>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.862C>A	7.37:g.25181949G>T	ENSP00000386604:p.Leu288Met					C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M	p.L288M			Q8N865	CG031_HUMAN			9	1170	-			288					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.862C>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687199	0.48097	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06528	3.29;3.29	5.48	1.41	0.22369	.	0.446761	0.19074	N	0.123417	T	0.05181	0.0138	L	0.38838	1.175	0.25151	N	0.990429	P	0.37955	0.612	B	0.39503	0.301	T	0.32508	-0.9904	10	0.32370	T	0.25	-37.6172	4.6255	0.12476	0.1732:0.0:0.402:0.4248	.	288	Q8N865	CG031_HUMAN	M	288	ENSP00000386604:L288M;ENSP00000283905:L288M	ENSP00000283905:L288M	L	-	1	2	C7orf31	25148474	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.566000	0.23593	0.773000	0.33404	0.491000	0.48974	CTG		0.393	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		41	232	1	0	1.47197e-15	1	1.61021e-15	41	232				
OR10Q1	219960	broad.mit.edu	37	11	57995968	57995968	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57995968T>C	ENST00000316770.2	-	1	422	c.380A>G	c.(379-381)tAt>tGt	p.Y127C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y127F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GATAGCCACATAGCGGTCATA	0.607																																						ENST00000316770.2																			1	Substitution - Missense(1)	p.Y127F(1)	breast(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(379-381)tAt>tGt		olfactory receptor, family 10, subfamily Q, member 1							88.0	74.0	79.0					11																	57995968		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995968T>C	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.380A>G	11.37:g.57995968T>C	ENSP00000314324:p.Tyr127Cys						p.Y127C	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	422	-		Breast(21;0.0589)	127					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.380A>G	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432837	0.25813	.	.	ENSG00000180475	ENST00000316770	T	0.56444	0.46	4.45	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.196371	0.25172	N	0.032585	T	0.67468	0.2896	M	0.81239	2.535	0.29356	N	0.865038	D	0.89917	1.0	D	0.68621	0.959	T	0.63251	-0.6679	10	0.66056	D	0.02	.	5.8888	0.18896	0.1485:0.084:0.0:0.7675	.	127	Q8NGQ4	O10Q1_HUMAN	C	127	ENSP00000314324:Y127C	ENSP00000314324:Y127C	Y	-	2	0	OR10Q1	57752544	0.999000	0.42202	0.010000	0.14722	0.057000	0.15508	3.287000	0.51732	0.720000	0.32209	0.455000	0.32223	TAT		0.607	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		44	177	0	0	0	1	0	44	177				
TCTE1	202500	broad.mit.edu	37	6	44247991	44247991	+	Missense_Mutation	SNP	C	C	T	rs374037676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44247991C>T	ENST00000371505.4	-	5	1555	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.R175H|TCTE1_ENST00000371503.3_Missense_Mutation_p.R175H|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	478										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCCGCTGGCGGGCTGCTTC	0.557																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1432-1434)cGc>cAc		t-complex-associated-testis-expressed 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	93.0	90.0		1433	5.2	1.0	6		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTE1	NM_182539.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	478/502	44247991	2,13004	2203	4300	6503	SO:0001583	missense	202500							g.chr6:44247991C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1433G>A	6.37:g.44247991C>T	ENSP00000360560:p.Arg478His					TCTE1_ENST00000371504.1_Missense_Mutation_p.R175H|TCTE1_ENST00000371503.3_Missense_Mutation_p.R175H|TMEM151B_ENST00000438774.2_Intron	p.R478H	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1555	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		478					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1433G>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774680	0.70107	2.27E-4	1.16E-4	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.56275	1.89;0.47;0.47	5.17	5.17	0.71159	.	0.141693	0.47852	D	0.000202	T	0.29684	0.0741	N	0.25647	0.755	0.24946	N	0.99182	D	0.56968	0.978	B	0.44085	0.44	T	0.13629	-1.0502	10	0.34782	T	0.22	-40.833	17.2324	0.86988	0.0:1.0:0.0:0.0	.	478	Q5JU00	TCTE1_HUMAN	H	478;175;175	ENSP00000360560:R478H;ENSP00000360558:R175H;ENSP00000360559:R175H	ENSP00000360558:R175H	R	-	2	0	TCTE1	44355969	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.123000	0.31308	2.590000	0.87494	0.563000	0.77884	CGC		0.557	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		119	535	0	0	0	1	0	119	535				
SMG5	23381	broad.mit.edu	37	1	156238182	156238182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156238182C>A	ENST00000361813.5	-	8	882	c.738G>T	c.(736-738)gaG>gaT	p.E246D	SMG5_ENST00000368267.5_Missense_Mutation_p.E246D|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	246					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATAGGCTCCCTCAAAGGACA	0.498																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(736-738)gaG>gaT		SMG5 nonsense mediated mRNA decay factor							166.0	166.0	166.0					1																	156238182		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156238182C>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.738G>T	1.37:g.156238182C>A	ENSP00000355261:p.Glu246Asp					SMG5_ENST00000368267.4_Missense_Mutation_p.E246D	p.E246D	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			8	882	-	Hepatocellular(266;0.158)		246					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.738G>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463389	0.26248	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.30182	1.54;1.54	6.02	3.03	0.35002	.	0.099820	0.64402	D	0.000002	T	0.04543	0.0124	N	0.05012	-0.13	0.42050	D	0.991117	B	0.18013	0.025	B	0.15052	0.012	T	0.25187	-1.0139	10	0.14656	T	0.56	-33.8617	8.0339	0.30480	0.0:0.5959:0.0:0.4041	.	246	Q9UPR3	SMG5_HUMAN	D	246	ENSP00000355261:E246D;ENSP00000357250:E246D	ENSP00000355261:E246D	E	-	3	2	SMG5	154504806	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.277000	0.18734	0.812000	0.34326	0.655000	0.94253	GAG		0.498	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		207	866	1	0	4.77903e-77	1	6.10086e-77	207	866				
USP21	27005	broad.mit.edu	37	1	161130902	161130902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161130902C>T	ENST00000289865.8	+	2	693	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	USP21_ENST00000368002.3_Missense_Mutation_p.R158C|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.R158C	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	158					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTTCTCTCCGCCGCCTAGG	0.652																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(472-474)Cgc>Tgc		ubiquitin specific peptidase 21							55.0	56.0	56.0					1																	161130902		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130902C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.472C>T	1.37:g.161130902C>T	ENSP00000289865:p.Arg158Cys					USP21_ENST00000289865.8_Missense_Mutation_p.R158C|USP21_ENST00000368001.1_Missense_Mutation_p.R158C	p.R158C	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	849	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		158					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.472C>T	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867316	0.72065	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45668	0.89;0.89;0.89	4.89	4.89	0.63831	.	0.164770	0.26503	U	0.024020	T	0.19446	0.0467	N	0.08118	0	0.44162	D	0.996967	D	0.62365	0.991	P	0.47603	0.551	T	0.10800	-1.0614	10	0.72032	D	0.01	.	13.4333	0.61068	0.0:1.0:0.0:0.0	.	158	Q9UK80	UBP21_HUMAN	C	158	ENSP00000356981:R158C;ENSP00000289865:R158C;ENSP00000356980:R158C	ENSP00000289865:R158C	R	+	1	0	USP21	159397526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.808000	0.47963	2.538000	0.85594	0.462000	0.41574	CGC		0.652	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			68	332	0	0	0	1	0	68	332				
XYLT1	64131	broad.mit.edu	37	16	17353281	17353281	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17353281G>A	ENST00000261381.6	-	3	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	159					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTCTCAAAGTCTTTGGGGA	0.502																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(475-477)gaC>gaT		xylosyltransferase I							140.0	127.0	132.0					16																	17353281		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353281G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.477C>T	16.37:g.17353281G>A							p.D159D	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	561	-			159					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.477C>T	CCDS10569.1																																																																																				0.502	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		113	443	0	0	0	1	0	113	443				
CEACAM21	90273	broad.mit.edu	37	19	42083774	42083774	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42083774G>T	ENST00000401445.2	+	2	313	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S96I|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	96						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTGCATACAGCGGTCGAGAG	0.493																																						ENST00000187608.9																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(286-288)aGc>aTc		carcinoembryonic antigen-related cell adhesion molecule 21							103.0	107.0	106.0					19																	42083774		2181	4293	6474	SO:0001583	missense	90273					integral to membrane		g.chr19:42083774G>T	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.287G>T	19.37:g.42083774G>T	ENSP00000385739:p.Ser96Ile					CEACAM21_ENST00000401445.2_Missense_Mutation_p.S96I|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR	p.S96I	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN			2	327	+			96					B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.287G>T	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936009	0.34189	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.69806	-0.43;-0.43	1.84	-0.702	0.11265	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83478	0.5263	H	0.96889	3.9	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.76575	0.979;0.988	T	0.69562	-0.5112	9	0.87932	D	0	.	3.1705	0.06550	0.1868:0.2804:0.5328:0.0	.	96;96	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	I	96	ENSP00000187608:S96I;ENSP00000385739:S96I	ENSP00000187608:S96I	S	+	2	0	CEACAM21	46775614	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-0.462000	0.06704	-0.054000	0.13266	0.123000	0.15791	AGC		0.493	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		42	257	1	0	4.01765e-15	1	4.38033e-15	42	257				
CHD2	1106	broad.mit.edu	37	15	93521533	93521533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:93521533G>A	ENST00000394196.4	+	21	3715	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	883	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACACAGTCGTCATCTTTGA	0.493																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2647-2649)Gtc>Atc		chromodomain helicase DNA binding protein 2							115.0	103.0	107.0					15																	93521533		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93521533G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2647G>A	15.37:g.93521533G>A	ENSP00000377747:p.Val883Ile					CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	p.V883I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		21	3715	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		883			Helicase C-terminal.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2647G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538166	0.27475	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.71461	-0.57;-0.57	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.31102	U	0.008259	T	0.44074	0.1276	N	0.00894	-1.105	0.80722	D	1	B;P;P	0.35923	0.158;0.528;0.477	B;B;B	0.38500	0.241;0.275;0.051	T	0.56836	-0.7913	10	0.02654	T	1	-17.3595	20.1001	0.97870	0.0:0.0:1.0:0.0	.	883;883;883	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	I	883	ENSP00000377747:V883I;ENSP00000451366:V883I	ENSP00000377747:V883I	V	+	1	0	CHD2	91322537	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.835000	0.99442	2.760000	0.94817	0.655000	0.94253	GTC		0.493	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		78	347	0	0	0	1	0	78	347				
NCOA6	23054	broad.mit.edu	37	20	33330933	33330933	+	Missense_Mutation	SNP	G	G	A	rs142432255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330933G>A	ENST00000374796.2	-	12	5697	c.3127C>T	c.(3127-3129)Ccc>Tcc	p.P1043S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1043S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1043	CREBBP-binding region.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACTGATTTGGGATCCTGCTGC	0.562																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3127-3129)Ccc>Tcc		nuclear receptor coactivator 6							134.0	128.0	130.0					20																	33330933		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330933G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3127C>T	20.37:g.33330933G>A	ENSP00000363929:p.Pro1043Ser					NCOA6_ENST00000359003.2_Missense_Mutation_p.P1043S	p.P1043S			Q14686	NCOA6_HUMAN			12	5697	-			1043			CREBBP-binding region.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.3127C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451681	0.26074	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23348	1.91;1.91	5.82	5.82	0.92795	.	0.202921	0.35407	N	0.003237	T	0.14056	0.0340	N	0.08118	0	0.40692	D	0.982402	B	0.14805	0.011	B	0.10450	0.005	T	0.09618	-1.0666	10	0.38643	T	0.18	-6.5654	11.5343	0.50628	0.0691:0.1266:0.8043:0.0	.	1043	Q14686	NCOA6_HUMAN	S	1043	ENSP00000363929:P1043S;ENSP00000351894:P1043S	ENSP00000351894:P1043S	P	-	1	0	NCOA6	32794594	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.148000	0.58085	2.756000	0.94617	0.563000	0.77884	CCC		0.562	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		22	822	0	0	0	1	0	22	822				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		16	270	0	0	0	1	0	16	270				
DNM1P46	196968	broad.mit.edu	37	15	100332832	100332832	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100332832A>G	ENST00000341853.1	-	0	1359				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										ACAACGAGGGACACAGCAAAT	0.607																																						ENST00000341853.1																			0																				79.0	80.0	80.0					15																	100332832		876	1991	2867			0							g.chr15:100332832A>G	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332832A>G								NR_003260.1						0	1359	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.607	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		13	470	0	0	0	1	0	13	470				
NRP1	8829	broad.mit.edu	37	10	33495125	33495125	+	Intron	SNP	G	G	A	rs181113873		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33495125G>A	ENST00000265371.4	-	11	2285				NRP1_ENST00000374875.1_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374816.3_Missense_Mutation_p.A639V|NRP1_ENST00000374823.5_Intron			O14786	NRP1_HUMAN	neuropilin 1						angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTACAGATTCGCATCCAGGGA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20732	0.0		0.0	False		,,,				2504	0.0				Melanoma(104;886 1489 44640 45944 51153)	ENST00000374816.3																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1915-1917)gCg>gTg		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						78.0	69.0	72.0					10																	33495125		876	1991	2867	SO:0001627	intron_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33495125G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1759+1374C>T	10.37:g.33495125G>A						NRP1_ENST00000374823.5_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000395995.1_Intron|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000265371.4_Intron	p.A639V			O14786	NRP1_HUMAN			11	2055	-			0					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1916C>T	CCDS7177.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	12.96	2.094434	0.36952	.	.	ENSG00000099250	ENST00000374816	D	0.89746	-2.56	4.66	0.589	0.17452	.	.	.	.	.	T	0.78735	0.4330	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.65134	-0.6242	6	0.23302	T	0.38	.	3.1876	0.06606	0.3019:0.0:0.5113:0.1868	.	.	.	.	V	639	ENSP00000363949:A639V	ENSP00000363949:A639V	A	-	2	0	NRP1	33535131	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.102000	0.15272	0.595000	0.29777	-0.119000	0.15052	GCG		0.483	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			28	176	0	0	0	1	0	28	176				
PTGDR	5729	broad.mit.edu	37	14	52735331	52735331	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735331C>A	ENST00000306051.2	+	1	901	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L267M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	267					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCTCCTGCTGCTGGCGCTGAT	0.687																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(799-801)Ctg>Atg		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						100.0	102.0	102.0					14																	52735331		2180	4253	6433	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735331C>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.799C>A	14.37:g.52735331C>A	ENSP00000303424:p.Leu267Met					PTGDR_ENST00000553372.1_Missense_Mutation_p.L267M	p.L267M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	901	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		267					G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.799C>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227231	0.58668	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.50001	0.76;0.76	4.38	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001857	T	0.61689	0.2367	M	0.73962	2.25	0.41178	D	0.986219	D	0.65815	0.995	D	0.77557	0.99	T	0.60120	-0.7325	10	0.21540	T	0.41	-19.3755	8.2922	0.31965	0.0:0.8143:0.0:0.1857	.	267	Q13258	PD2R_HUMAN	M	267	ENSP00000303424:L267M;ENSP00000452408:L267M	ENSP00000303424:L267M	L	+	1	2	PTGDR	51805081	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	1.922000	0.40045	1.431000	0.47355	0.563000	0.77884	CTG		0.687	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		242	912	1	0	3.91311e-84	1	5.01297e-84	242	912				
UFSP2	55325	broad.mit.edu	37	4	186329545	186329545	+	Missense_Mutation	SNP	C	C	A	rs201688336		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329545C>A	ENST00000264689.6	-	8	992	c.876G>T	c.(874-876)caG>caT	p.Q292H		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	292						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTATGCGATCCTGCATATAAT	0.398																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(874-876)caG>caT		UFM1-specific peptidase 2							112.0	101.0	105.0					4																	186329545		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329545C>A	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.876G>T	4.37:g.186329545C>A	ENSP00000264689:p.Gln292His						p.Q292H	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	8	992	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	292					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.876G>T	CCDS3842.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.55|11.55|11.55	1.672574|1.672574|1.672574	0.29693|0.29693|0.29693	.|.|.	.|.|.	ENSG00000109775|ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689|ENST00000509180	.|T|.	.|0.31769|.	.|1.48|.	6.03|6.03|6.03	1.59|1.59|1.59	0.23543|0.23543|0.23543	.|.|.	.|0.132090|.	.|0.64402|.	.|D|.	.|0.000018|.	.|T|T	.|0.74238|0.74238	.|0.3690|0.3690	M|M|M	0.87758|0.87758|0.87758	2.905|2.905|2.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	.|T|T	.|0.71935|0.71935	.|-0.4442|-0.4442	.|10|5	.|0.25751|.	.|T|.	.|0.34|.	.|-3.6114|-3.6114	9.224|9.224|9.224	0.37395|0.37395|0.37395	0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608	.|.|.	.|292|.	.|Q9NUQ7|.	.|UFSP2_HUMAN|.	.|H|M	-1|292|21	.|ENSP00000264689:Q292H|.	.|ENSP00000264689:Q292H|.	.|Q|R	-|-|-	.|3|2	.|2|0	UFSP2|UFSP2|UFSP2	186566539|186566539|186566539	0.952000|0.952000|0.952000	0.32445|0.32445|0.32445	0.981000|0.981000|0.981000	0.43875|0.43875|0.43875	0.444000|0.444000|0.444000	0.32077|0.32077|0.32077	0.132000|0.132000|0.132000	0.15891|0.15891|0.15891	-0.039000|-0.039000|-0.039000	0.13602|0.13602|0.13602	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|CAG|AGG		0.398	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		73	315	1	0	7.07328e-35	1	8.4269e-35	73	315				
ADAMTS8	11095	broad.mit.edu	37	11	130281332	130281332	+	Missense_Mutation	SNP	G	G	A	rs377662947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130281332G>A	ENST00000257359.6	-	6	2436	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	577	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T577M(1)|p.T606M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCATTCCTCCGTGTGGCATGA	0.567																																						ENST00000257359.6																			2	Substitution - Missense(2)	p.T577M(1)|p.T606M(1)	pancreas(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1729-1731)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 8		G	MET/THR	1,3979		0,1,1989	76.0	80.0	79.0		1730	4.7	0.9	11		79	0,8294		0,0,4147	no	missense	ADAMTS8	NM_007037.4	81	0,1,6136	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging	577/890	130281332	1,12273	1990	4147	6137	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281332G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1730C>T	11.37:g.130281332G>A	ENSP00000257359:p.Thr577Met						p.T577M	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	6	2436	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	577			TSP type-1 1.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1730C>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470947	0.63625	2.51E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.05649	3.41	5.58	4.67	0.58626	.	0.093473	0.64402	D	0.000001	T	0.25901	0.0631	M	0.86097	2.795	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.72982	0.979;0.973	T	0.01879	-1.1255	10	0.66056	D	0.02	.	10.8882	0.46978	0.1444:0.0:0.8556:0.0	.	577;58	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	577;606	ENSP00000257359:T577M	ENSP00000257359:T577M	T	-	2	0	ADAMTS8	129786542	1.000000	0.71417	0.917000	0.36280	0.651000	0.38670	3.050000	0.49877	1.502000	0.48669	0.591000	0.81541	ACG		0.567	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		36	318	0	0	0	1	0	36	318				
KLF17	128209	broad.mit.edu	37	1	44595709	44595709	+	Missense_Mutation	SNP	G	G	A	rs200292026		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595709G>A	ENST00000372299.3	+	2	824	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	256					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAGCAGCCCGGACCTGCTCC	0.557																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(766-768)Gga>Aga		Kruppel-like factor 17		A	ARG/GLY	0,4406		0,0,2203	54.0	58.0	57.0		766	-0.4	0.0	1		57	1,8599	818.0+/-406.9	0,1,4299	no	missense	KLF17	NM_173484.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	256/390	44595709	1,13005	2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595709G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.766G>A	1.37:g.44595709G>A	ENSP00000361373:p.Gly256Arg					KLF17_ENST00000476802.1_3'UTR	p.G256R	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN			2	824	+	Acute lymphoblastic leukemia(166;0.155)		256					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.766G>A	CCDS508.1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044501	0.08196	0.0	1.16E-4	ENSG00000171872	ENST00000372299	T	0.10763	2.84	4.65	-0.406	0.12389	.	1.149600	0.06340	N	0.707762	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	10	0.11794	T	0.64	.	3.4088	0.07351	0.4837:0.0:0.1661:0.3502	.	256	Q5JT82	KLF17_HUMAN	R	256	ENSP00000361373:G256R	ENSP00000361373:G256R	G	+	1	0	KLF17	44368296	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.802000	0.04545	-0.325000	0.08577	-0.381000	0.06696	GGA		0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		36	318	0	0	0	1	0	36	318				
SALL4	57167	broad.mit.edu	37	20	50405543	50405543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405543C>T	ENST00000217086.4	-	3	2710	c.2599G>A	c.(2599-2601)Gcc>Acc	p.A867T	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Missense_Mutation_p.A90T|SALL4_ENST00000395997.3_Missense_Mutation_p.A430T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	867					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTTGCTTGGCCTGTCGGCGT	0.567																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2599-2601)Gcc>Acc		spalt-like transcription factor 4							62.0	54.0	57.0					20																	50405543		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50405543C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2599G>A	20.37:g.50405543C>T	ENSP00000217086:p.Ala867Thr					SALL4_ENST00000371539.3_Missense_Mutation_p.A90T|SALL4_ENST00000395997.3_Missense_Mutation_p.A430T	p.A867T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			3	2710	-			867					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2599G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119256	0.56505	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.09163	3.01;3.21;3.24	5.73	4.79	0.61399	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.332661	0.22021	N	0.065740	T	0.13586	0.0329	L	0.47190	1.495	0.42929	D	0.994317	B;P;P	0.48294	0.028;0.791;0.908	B;B;P	0.45406	0.02;0.196;0.479	T	0.11372	-1.0590	10	0.18710	T	0.47	-16.0971	14.6039	0.68463	0.0:0.9296:0.0:0.0704	.	430;90;867	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	T	867;430;90	ENSP00000217086:A867T;ENSP00000379319:A430T;ENSP00000360594:A90T	ENSP00000217086:A867T	A	-	1	0	SALL4	49838950	0.897000	0.30589	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	1.413000	0.46997	0.655000	0.94253	GCC		0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			50	248	0	0	0	1	0	50	248				
PPFIA1	8500	broad.mit.edu	37	11	70170552	70170552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70170552G>A	ENST00000253925.7	+	3	524	c.309G>A	c.(307-309)caG>caA	p.Q103Q	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.Q103Q|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	103					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAGGGAACAGCTCCTTGAAA	0.423																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(307-309)caG>caA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							136.0	138.0	137.0					11																	70170552		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70170552G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.309G>A	11.37:g.70170552G>A						PPFIA1_ENST00000389547.3_Silent_p.Q103Q|AP000487.6_ENST00000528607.1_RNA	p.Q103Q	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		3	524	+			103					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.309G>A	CCDS31627.1																																																																																				0.423	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		36	753	0	0	0	1	0	36	753				
NSMCE4A	54780	broad.mit.edu	37	10	123724800	123724800	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123724800C>T	ENST00000369023.3	-	5	805		c.e5+1		NSMCE4A_ENST00000369017.5_Splice_Site|NSMCE4A_ENST00000538652.1_Splice_Site|NSMCE4A_ENST00000489266.1_Splice_Site	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTAAAACAAACCTGGGCAGGC	0.403																																						ENST00000538652.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6						c.e5+1		non-SMC element 4 homolog A (S. cerevisiae)							79.0	80.0	80.0					10																	123724800		2203	4300	6503	SO:0001630	splice_region_variant	54780							g.chr10:123724800C>T	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.753+1G>A	10.37:g.123724800C>T						NSMCE4A_ENST00000369017.5_Splice_Site|NSMCE4A_ENST00000369023.3_Splice_Site|NSMCE4A_ENST00000489266.1_Splice_Site				Q9NXX6	NSE4A_HUMAN			5	914	-		all_neural(114;0.138)|Glioma(114;0.222)						Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Splice_Site	SNP	ENST00000369023.3	37		CCDS7624.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334152	0.60853	.	.	ENSG00000107672	ENST00000369023;ENST00000538652;ENST00000369017	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7303	0.77794	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMCE4A	123714790	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.561000	0.67339	2.516000	0.84829	0.655000	0.94253	.		0.403	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	NM_017615	Intron	58	252	0	0	0	1	0	58	252				
ZNF823	55552	broad.mit.edu	37	19	11832603	11832603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11832603C>T	ENST00000341191.6	-	4	1899	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	ZNF823_ENST00000545749.1_Silent_p.L400L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TACATTCATACAGCTTCTCTC	0.418										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1744-1746)ctG>ctA		zinc finger protein 823							91.0	91.0	91.0					19																	11832603		2203	4300	6503	SO:0001819	synonymous_variant	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832603C>T	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1746G>A	19.37:g.11832603C>T		HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Silent_p.L400L	p.L582L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	1899	-			582					A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	37	c.1746G>A	CCDS45981.1																																																																																				0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		83	328	0	0	0	1	0	83	328				
TTN	7273	broad.mit.edu	37	2	179425926	179425926	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179425926G>A	ENST00000591111.1	-	276	80234	c.80010C>T	c.(80008-80010)taC>taT	p.Y26670Y	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.Y28311Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26670	Fibronectin type-III 94. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTACTTCAAAGTATGTTTCTT	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(84931-84933)taC>taT		titin							84.0	77.0	79.0					2																	179425926		1918	4119	6037	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425926G>A	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.80010C>T	2.37:g.179425926G>A						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.Y26670Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.Y28311Y	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)		326	85157	-			26670			Fibronectin type-III 106.		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.84933C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	276	0	0	0	1	0	64	276				
MYH1	4619	broad.mit.edu	37	17	10399596	10399596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10399596C>T	ENST00000226207.5	-	34	5021	c.4927G>A	c.(4927-4929)Gcc>Acc	p.A1643T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1643				A -> D (in Ref. 4; CAA27380). {ECO:0000305}.	muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCCTCAGGGCCTCAGCAGCC	0.502																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4927-4929)Gcc>Acc		myosin, heavy chain 1, skeletal muscle, adult							182.0	163.0	170.0					17																	10399596		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399596C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4927G>A	17.37:g.10399596C>T	ENSP00000226207:p.Ala1643Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1643T	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			34	5021	-			1643	A -> D (in Ref. 4; CAA27380).				Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4927G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076045	0.36662	.	.	ENSG00000109061	ENST00000226207	T	0.79845	-1.31	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.42964	U	0.000639	T	0.76011	0.3928	M	0.62154	1.92	0.42200	D	0.991768	B	0.06786	0.001	B	0.15052	0.012	T	0.71163	-0.4673	10	0.40728	T	0.16	.	9.0459	0.36347	0.1477:0.7783:0.0:0.074	.	1643	P12882	MYH1_HUMAN	T	1643	ENSP00000226207:A1643T	ENSP00000226207:A1643T	A	-	1	0	MYH1	10340321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.784000	0.38674	2.758000	0.94735	0.655000	0.94253	GCC		0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		125	584	0	0	0	1	0	125	584				
DAGLA	747	broad.mit.edu	37	11	61490390	61490390	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61490390T>C	ENST00000257215.5	+	4	483	c.367T>C	c.(367-369)Tac>Cac	p.Y123H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	123					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACTCAGTACTACACCTCCTG	0.612																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(367-369)Tac>Cac		diacylglycerol lipase, alpha							261.0	172.0	202.0					11																	61490390		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61490390T>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.367T>C	11.37:g.61490390T>C	ENSP00000257215:p.Tyr123His						p.Y123H	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	4	483	+			123					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.367T>C	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252832	0.80135	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.27365	-1.0076	10	0.46703	T	0.11	-31.8586	15.0401	0.71785	0.0:0.0:0.0:1.0	.	123	Q9Y4D2	DGLA_HUMAN	H	123	ENSP00000257215:Y123H	ENSP00000257215:Y123H	Y	+	1	0	DAGLA	61246966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.267000	0.78462	2.027000	0.59764	0.459000	0.35465	TAC		0.612	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		100	476	0	0	0	1	0	100	476				
TSHZ2	128553	broad.mit.edu	37	20	51870871	51870871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870871G>A	ENST00000371497.5	+	2	1761	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	292					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGATTTGAGCGTCCACATGAT	0.438																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(874-876)Gtc>Atc		teashirt zinc finger homeobox 2							66.0	61.0	63.0					20																	51870871		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870871G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.874G>A	20.37:g.51870871G>A	ENSP00000360552:p.Val292Ile					TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I	p.V292I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1761	+			292					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.874G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637790	0.87760	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.41758	0.99;0.99	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.54323	1.7	0.80722	D	1	D	0.58620	0.983	D	0.70935	0.971	T	0.62599	-0.6820	10	0.66056	D	0.02	-3.0281	19.4463	0.94849	0.0:0.0:1.0:0.0	.	292	Q9NRE2	TSH2_HUMAN	I	292;289	ENSP00000360552:V292I;ENSP00000333114:V289I	ENSP00000333114:V289I	V	+	1	0	TSHZ2	51304278	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.414000	0.97362	2.663000	0.90544	0.549000	0.68633	GTC		0.438	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		56	229	0	0	0	1	0	56	229				
ZNF287	57336	broad.mit.edu	37	17	16455434	16455434	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16455434T>C	ENST00000395824.1	-	6	2639	c.2022A>G	c.(2020-2022)aaA>aaG	p.K674K	ZNF287_ENST00000395825.3_Silent_p.K674K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	667					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTATAGGGTTTTTCTCCAG	0.348																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(2020-2022)aaA>aaG		zinc finger protein 287							88.0	87.0	87.0					17																	16455434		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455434T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.2022A>G	17.37:g.16455434T>C						ZNF287_ENST00000395825.3_Silent_p.K674K	p.K674K			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2639	-			667					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.2022A>G	CCDS11179.2																																																																																				0.348	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			76	241	0	0	0	1	0	76	241				
SOX7	83595	broad.mit.edu	37	8	10583423	10583423	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10583423T>C	ENST00000304501.1	-	2	1070	c.992A>G	c.(991-993)gAa>gGa	p.E331G	SOX7_ENST00000554914.1_Missense_Mutation_p.E383G|SOX7_ENST00000553390.1_Missense_Mutation_p.E383G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	331	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTGGTCGAATTCATTGCGATC	0.627																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(991-993)gAa>gGa		SRY (sex determining region Y)-box 7							95.0	85.0	89.0					8																	10583423		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583423T>C	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.992A>G	8.37:g.10583423T>C	ENSP00000301921:p.Glu331Gly					SOX7_ENST00000553390.1_Missense_Mutation_p.E383G|SOX7_ENST00000554914.1_Missense_Mutation_p.E383G	p.E331G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	1070	-			331			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.992A>G	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280179	0.80692	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.89875	-2.58;-2.58;-2.58	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.94676	0.8283	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95429	0.8514	10	0.87932	D	0	.	13.3977	0.60863	0.0:0.0:0.0:1.0	.	383;331	B4DKV0;Q9BT81	.;SOX7_HUMAN	G	331;383;383	ENSP00000301921:E331G;ENSP00000452017:E383G;ENSP00000451145:E383G	ENSP00000346908:E383G	E	-	2	0	SOX7;CTD-2135J3.4	10620833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	1.932000	0.55993	0.459000	0.35465	GAA		0.627	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			51	236	0	0	0	1	0	51	236				
ZDHHC5	25921	broad.mit.edu	37	11	57457546	57457546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57457546G>A	ENST00000287169.3	+	5	1790	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	143					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TGTATTGGTCGCCGGAACTAC	0.458																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(427-429)cGc>cAc		zinc finger, DHHC-type containing 5							157.0	151.0	153.0					11																	57457546		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57457546G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.428G>A	11.37:g.57457546G>A	ENSP00000287169:p.Arg143His					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	p.R143H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			5	1790	+			143					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.428G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687494	0.96784	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.23	5.23	0.72850	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.056441	0.64402	N	0.000001	T	0.47395	0.1443	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.42515	-0.9447	10	0.87932	D	0	-12.894	18.5851	0.91187	0.0:0.0:1.0:0.0	.	143	Q9C0B5	ZDHC5_HUMAN	H	90;143;41;41	ENSP00000432202:R90H;ENSP00000287169:R143H;ENSP00000431209:R41H;ENSP00000435593:R41H	ENSP00000287169:R143H	R	+	2	0	ZDHHC5	57214122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.125000	0.94402	2.714000	0.92807	0.563000	0.77884	CGC		0.458	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		140	604	0	0	0	1	0	140	604				
MAN2A1	4124	broad.mit.edu	37	5	109202616	109202616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109202616C>T	ENST00000261483.4	+	22	4404	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1118					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATCCTTGATGCATTCACCTCC	0.358																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3352-3354)Cat>Tat		mannosidase, alpha, class 2A, member 1							123.0	113.0	116.0					5																	109202616		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109202616C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3352C>T	5.37:g.109202616C>T	ENSP00000261483:p.His1118Tyr						p.H1118Y	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	22	4404	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1118					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3352C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	6.228	0.410203	0.11812	.	.	ENSG00000112893	ENST00000261483	D	0.82893	-1.66	6.03	4.25	0.50352	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.203177	0.44483	D	0.000453	T	0.76821	0.4041	L	0.35487	1.065	0.45662	D	0.998586	B	0.27264	0.173	B	0.35688	0.208	T	0.68777	-0.5319	9	.	.	.	-6.2768	12.481	0.55842	0.0:0.866:0.0:0.134	.	1118	Q16706	MA2A1_HUMAN	Y	1118	ENSP00000261483:H1118Y	.	H	+	1	0	MAN2A1	109230515	1.000000	0.71417	0.964000	0.40570	0.797000	0.45037	4.052000	0.57420	0.881000	0.35993	0.655000	0.94253	CAT		0.358	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			11	410	0	0	0	1	0	11	410				
SLC25A12	8604	broad.mit.edu	37	2	172648089	172648089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172648089G>A	ENST00000422440.2	-	15	1494	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	486					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGGAAACACGCTTTGGCACC	0.448																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1456-1458)gCg>gTg		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						96.0	91.0	93.0					2																	172648089		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172648089G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1457C>T	2.37:g.172648089G>A	ENSP00000388658:p.Ala486Val					SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	p.A486V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		15	1494	-			486					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1457C>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449200	0.96205	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79352	-1.26;-1.26	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89034	0.3444	10	0.87932	D	0	-10.5306	20.6593	0.99626	0.0:0.0:1.0:0.0	.	379;486	B3KR64;O75746	.;CMC1_HUMAN	V	486;379	ENSP00000388658:A486V;ENSP00000376371:A379V	ENSP00000376371:A379V	A	-	2	0	SLC25A12	172356335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.824000	0.99380	2.885000	0.99019	0.655000	0.94253	GCG		0.448	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		100	264	0	0	0	1	0	100	264				
MFN2	9927	broad.mit.edu	37	1	12052696	12052696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12052696G>A	ENST00000235329.5	+	4	582	c.260G>A	c.(259-261)gGc>gAc	p.G87D	MFN2_ENST00000444836.1_Missense_Mutation_p.G87D|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	87					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGTGAGAGGCATCAGTGAG	0.532																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(259-261)gGc>gAc		mitofusin 2							249.0	225.0	233.0					1																	12052696		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12052696G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.260G>A	1.37:g.12052696G>A	ENSP00000235329:p.Gly87Asp					MFN2_ENST00000444836.1_Missense_Mutation_p.G87D|MFN2_ENST00000497302.1_3'UTR	p.G87D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	4	582	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	87					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.260G>A	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788652	0.90367	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.95482	-3.53;-3.53;-3.72	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.73217	2.22	0.80722	D	1	D	0.54772	0.968	P	0.52267	0.694	D	0.94998	0.8140	10	0.29301	T	0.29	-28.61	18.3893	0.90477	0.0:0.0:1.0:0.0	.	87	O95140	MFN2_HUMAN	D	87	ENSP00000416338:G87D;ENSP00000235329:G87D;ENSP00000412023:G87D	ENSP00000235329:G87D	G	+	2	0	MFN2	11975283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.335000	0.72949	2.588000	0.87417	0.561000	0.74099	GGC		0.532	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		185	832	0	0	0	1	0	185	832				
OR10J5	127385	broad.mit.edu	37	1	159505736	159505736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159505736C>T	ENST00000334857.2	-	1	106	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGATGCTTTCCAAAGCTAGA	0.368																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(61-63)gGa>gAa		olfactory receptor, family 10, subfamily J, member 5							85.0	83.0	83.0					1																	159505736		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505736C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.62G>A	1.37:g.159505736C>T	ENSP00000334441:p.Gly21Glu						p.G21E	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	106	-	all_hematologic(112;0.0429)		21					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.62G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628761	0.03610	.	.	ENSG00000184155	ENST00000334857	T	0.03004	4.08	4.29	2.4	0.29515	.	.	.	.	.	T	0.00666	0.0022	N	0.21448	0.665	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.47289	-0.9129	9	0.09338	T	0.73	.	3.2892	0.06943	0.2082:0.5749:0.0:0.2169	.	21	Q8NHC4	O10J5_HUMAN	E	21	ENSP00000334441:G21E	ENSP00000334441:G21E	G	-	2	0	OR10J5	157772360	0.000000	0.05858	0.545000	0.28153	0.476000	0.33039	-0.100000	0.10990	1.146000	0.42352	0.557000	0.71058	GGA		0.368	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		89	489	0	0	0	1	0	89	489				
TTN	7273	broad.mit.edu	37	2	179577471	179577471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179577471C>T	ENST00000591111.1	-	92	26554	c.26330G>A	c.(26329-26331)aGc>aAc	p.S8777N	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9094N|TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12927	Ig-like 70.				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)			AGCTTCATTGCTAACTATGCA	0.393																																						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.(27280-27282)aGc>aAc		titin							93.0	90.0	91.0					2																	179577471		1906	4119	6025	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577471C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26330G>A	2.37:g.179577471C>T	ENSP00000465570:p.Ser8777Asn					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8777N	p.S9094N	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)		94	27505	-			8777			Ig-like 74.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.27281G>A		.	.	.	.	.	.	.	.	.	.	C	9.939	1.217070	0.22373	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.48	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73087	0.3542	M	0.81802	2.56	0.09310	N	0.999999	B	0.25048	0.117	B	0.33196	0.159	T	0.69331	-0.5173	9	0.87932	D	0	.	17.1553	0.86790	0.0:0.5105:0.4895:0.0	.	8777	Q8WZ42	TITIN_HUMAN	N	7850	ENSP00000343764:S7850N	ENSP00000343764:S7850N	S	-	2	0	TTN	179285716	0.000000	0.05858	0.387000	0.26183	0.986000	0.74619	0.215000	0.17562	0.746000	0.32786	0.655000	0.94253	AGC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	279	0	0	0	1	0	53	279				
NCKAP1	10787	broad.mit.edu	37	2	183867735	183867735	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183867735A>G	ENST00000361354.4	-	4	708	c.336T>C	c.(334-336)aaT>aaC	p.N112N	NCKAP1_ENST00000360982.2_Silent_p.N118N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	112					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CGTCAATAGTATTCAGCAATT	0.308																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(352-354)aaT>aaC		NCK-associated protein 1							45.0	46.0	46.0					2																	183867735		2203	4296	6499	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183867735A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.336T>C	2.37:g.183867735A>G						NCKAP1_ENST00000361354.3_Silent_p.N112N	p.N118N	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		5	1112	-			112					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.354T>C	CCDS2287.1																																																																																				0.308	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		8	146	0	0	0	1	0	8	146				
HNF4G	3174	broad.mit.edu	37	8	76465367	76465367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76465367C>A	ENST00000354370.1	+	6	709	c.439C>A	c.(439-441)Ctc>Atc	p.L147I	HNF4G_ENST00000396423.2_Missense_Mutation_p.L184I			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	147					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GAAACAGCAGCTCTTAGTCTT	0.358																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(550-552)Ctc>Atc		hepatocyte nuclear factor 4, gamma							122.0	114.0	117.0					8																	76465367		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76465367C>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.439C>A	8.37:g.76465367C>A	ENSP00000346339:p.Leu147Ile					HNF4G_ENST00000354370.1_Missense_Mutation_p.L147I	p.L184I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	674	+	Breast(64;0.0448)		147					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.550C>A		.	.	.	.	.	.	.	.	.	.	C	32	5.182110	0.94885	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.97404	-4.37;-4.37	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.121290	0.56097	D	0.000027	D	0.98682	0.9558	M	0.89287	3.02	0.80722	D	1	P;D	0.59357	0.883;0.985	D;D	0.75020	0.949;0.985	D	0.99035	1.0822	9	.	.	.	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	184;147	F1D8Q4;Q14541	.;HNF4G_HUMAN	I	147;184	ENSP00000346339:L147I;ENSP00000379701:L184I	.	L	+	1	0	HNF4G	76627922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.247000	0.78257	2.805000	0.96524	0.655000	0.94253	CTC		0.358	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		70	323	1	0	7.07328e-35	1	8.4269e-35	70	323				
UNC93A	54346	broad.mit.edu	37	6	167708179	167708179	+	Missense_Mutation	SNP	G	G	A	rs376773048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167708179G>A	ENST00000230256.3	+	2	437	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAACTTCTTCGCCAGCTGGTA	0.617																																						ENST00000230256.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(262-264)Gcc>Acc		unc-93 homolog A (C. elegans)		G	THR/ALA,THR/ALA	0,4406		0,0,2203	151.0	142.0	145.0		262,262	3.7	0.8	6		145	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	UNC93A	NM_001143947.1,NM_018974.3	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	88/416,88/458	167708179	2,13004	2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167708179G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.262G>A	6.37:g.167708179G>A	ENSP00000230256:p.Ala88Thr					UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T|UNC93A_ENST00000366830.2_3'UTR	p.A88T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	437	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	88					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.262G>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491407	0.44249	0.0	2.33E-4	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	D;D;D	0.83673	-1.75;-1.75;-1.75	4.66	3.72	0.42706	Major facilitator superfamily domain, general substrate transporter (1);	0.115273	0.64402	D	0.000015	T	0.80984	0.4729	M	0.70275	2.135	0.49213	D	0.999765	P;P	0.48230	0.882;0.907	B;P	0.49276	0.418;0.605	T	0.82092	-0.0628	10	0.45353	T	0.12	-26.7025	13.2564	0.60081	0.0:0.1604:0.8396:0.0	.	88;88	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	88	ENSP00000421484:A88T;ENSP00000230256:A88T;ENSP00000355794:A88T	ENSP00000230256:A88T	A	+	1	0	UNC93A	167628169	0.991000	0.36638	0.833000	0.33012	0.410000	0.31052	2.345000	0.44018	2.124000	0.65301	0.313000	0.20887	GCC		0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		63	772	0	0	0	1	0	63	772				
N4BP1	9683	broad.mit.edu	37	16	48587468	48587468	+	Missense_Mutation	SNP	G	G	A	rs377500906		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48587468G>A	ENST00000262384.3	-	3	2238	c.2002C>T	c.(2002-2004)Cgt>Tgt	p.R668C	N4BP1_ENST00000565423.1_5'Flank	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	668					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTAGGATCACGCCTTGTTCTC	0.363																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(2002-2004)Cgt>Tgt		NEDD4 binding protein 1		G	CYS/ARG	0,3780		0,0,1890	66.0	61.0	63.0		2002	5.9	0.9	16		63	1,8241		0,1,4120	no	missense	N4BP1	NM_153029.3	180	0,1,6010	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	668/897	48587468	1,12021	1890	4121	6011	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48587468G>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2002C>T	16.37:g.48587468G>A	ENSP00000262384:p.Arg668Cys						p.R668C	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			3	2238	-		all_cancers(37;0.179)|all_lung(18;0.11)	668					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.2002C>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829345	0.71258	0.0	1.21E-4	ENSG00000102921	ENST00000262384	T	0.44881	0.91	5.93	5.93	0.95920	Ribonuclease Zc3h12a-like (1);	0.048713	0.85682	D	0.000000	T	0.64305	0.2586	M	0.71581	2.175	0.58432	D	0.99999	D	0.76494	0.999	D	0.80764	0.994	T	0.64778	-0.6327	10	0.62326	D	0.03	-17.7326	15.8935	0.79318	0.0:0.0:0.8641:0.1359	.	668	O75113	N4BP1_HUMAN	C	668	ENSP00000262384:R668C	ENSP00000262384:R668C	R	-	1	0	N4BP1	47144969	0.996000	0.38824	0.925000	0.36789	0.994000	0.84299	3.647000	0.54403	2.814000	0.96858	0.655000	0.94253	CGT		0.363	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		26	92	0	0	0	1	0	26	92				
CBFA2T3	863	broad.mit.edu	37	16	88951484	88951484	+	Missense_Mutation	SNP	G	G	A	rs377163386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88951484G>A	ENST00000268679.4	-	7	1483	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|RP11-830F9.5_ENST00000565053.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	363	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTAGCTCCCGGGGGTCTGGG	0.687			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1087-1089)Cgg>Tgg		core-binding factor, runt domain, alpha subunit 2; translocated to, 3		G	TRP/ARG,TRP/ARG	0,4378		0,0,2189	59.0	55.0	56.0		1087,829	4.1	1.0	16		56	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	CBFA2T3	NM_005187.5,NM_175931.2	101,101	0,1,6480	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	363/654,277/568	88951484	1,12961	2189	4292	6481	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88951484G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1087C>T	16.37:g.88951484G>A	ENSP00000268679:p.Arg363Trp					RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W	p.R363W	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	7	1483	-			363			Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1087C>T	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133312	0.56828	0.0	1.16E-4	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.57273	1.04;0.41;0.69;1.04;1.04	4.12	4.12	0.48240	.	0.331834	0.26719	N	0.022859	T	0.69931	0.3166	M	0.78637	2.42	0.47905	D	0.999547	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	P;P;P;P	0.60415	0.874;0.614;0.762;0.858	T	0.76457	-0.2952	10	0.87932	D	0	-13.385	16.5087	0.84278	0.0:0.0:1.0:0.0	.	325;363;363;277	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	W	277;363;325;287;277	ENSP00000332122:R277W;ENSP00000268679:R363W;ENSP00000395739:R325W;ENSP00000401254:R287W;ENSP00000353449:R277W	ENSP00000268679:R363W	R	-	1	2	CBFA2T3	87478985	1.000000	0.71417	0.967000	0.41034	0.075000	0.17131	1.216000	0.32443	2.282000	0.76494	0.561000	0.74099	CGG		0.687	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		69	158	0	0	0	1	0	69	158				
FSIP2	401024	broad.mit.edu	37	2	186671708	186671708	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671708C>A	ENST00000424728.1	+	17	17675	c.17675C>A	c.(17674-17676)cCt>cAt	p.P5892H	FSIP2_ENST00000343098.5_Missense_Mutation_p.P5981H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5892										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATGCCACCTATGCATAAA	0.343																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17941-17943)cCt>cAt		fibrous sheath interacting protein 2							61.0	59.0	59.0					2																	186671708		1851	4106	5957	SO:0001583	missense	401024							g.chr2:186671708C>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17675C>A	2.37:g.186671708C>A	ENSP00000401306:p.Pro5892His					FSIP2_ENST00000424728.1_Missense_Mutation_p.P5892H	p.P5981H	NM_173651.2	NP_775922.2					17	17942	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17942C>A		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.542692	0.00934	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.94	4.52	1.24	0.21308	.	.	.	.	.	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19844	-1.0293	7	0.44086	T	0.13	.	6.0926	0.20003	0.3565:0.5258:0.1177:0.0	.	.	.	.	H	5981;5892	ENSP00000344403:P5981H;ENSP00000401306:P5892H	ENSP00000344403:P5981H	P	+	2	0	FSIP2	186379953	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.154000	0.10130	0.020000	0.15106	-0.479000	0.04858	CCT		0.343	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		53	284	1	0	2.23044e-30	1	2.6157e-30	53	284				
CALHM1	255022	broad.mit.edu	37	10	105218421	105218421	+	Missense_Mutation	SNP	C	C	T	rs146465393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218421C>T	ENST00000329905.5	-	1	224	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	30					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGGGCACTGGCCAGGGCCATG	0.612																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(88-90)Gcc>Acc		calcium homeostasis modulator 1		C	THR/ALA	0,4406		0,0,2203	46.0	49.0	48.0		88	5.6	1.0	10	dbSNP_134	48	9,8591	7.1+/-27.0	0,9,4291	yes	missense	CALHM1	NM_001001412.3	58	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	probably-damaging	30/347	105218421	9,12997	2203	4300	6503	SO:0001583	missense	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218421C>T	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.88G>A	10.37:g.105218421C>T	ENSP00000329926:p.Ala30Thr					RP11-225H22.4_ENST00000411906.1_RNA	p.A30T	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			1	224	-			30					Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	c.88G>A	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572932	0.96553	0.0	0.001047	ENSG00000185933	ENST00000329905	T	0.20332	2.08	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49103	-0.8974	10	0.66056	D	0.02	-31.676	18.5069	0.90901	0.0:1.0:0.0:0.0	.	30	Q8IU99	CAHM1_HUMAN	T	30	ENSP00000329926:A30T	ENSP00000329926:A30T	A	-	1	0	CALHM1	105208411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.332000	0.79203	2.619000	0.88677	0.491000	0.48974	GCC		0.612	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		57	240	0	0	0	1	0	57	240				
SLU7	10569	broad.mit.edu	37	5	159835352	159835352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159835352C>T	ENST00000297151.4	-	8	1190	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	268					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATATCTTCTCGAATCCTGAG	0.368																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(802-804)cGa>cAa		SLU7 splicing factor homolog (S. cerevisiae)							81.0	83.0	82.0					5																	159835352		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159835352C>T	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.803G>A	5.37:g.159835352C>T	ENSP00000297151:p.Arg268Gln						p.R268Q	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1190	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	268					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.803G>A	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675574	0.96764	.	.	ENSG00000164609	ENST00000297151	T	0.72282	-0.64	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88867	0.3330	10	0.87932	D	0	-22.3357	20.8598	0.99761	0.0:1.0:0.0:0.0	.	268	O95391	SLU7_HUMAN	Q	268	ENSP00000297151:R268Q	ENSP00000297151:R268Q	R	-	2	0	SLU7	159767930	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.412000	0.80091	2.937000	0.99478	0.650000	0.86243	CGA		0.368	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		41	265	0	0	0	1	0	41	265				
TAS2R38	5726	broad.mit.edu	37	7	141673051	141673051	+	Missense_Mutation	SNP	T	T	C	rs530889921	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141673051T>C	ENST00000547270.1	-	1	522	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	147					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAAAGAATAATACCCAGGAGC	0.478													T|||	4	0.000798722	0.0	0.0	5008	,	,		21234	0.0		0.0	False		,,,				2504	0.0041					ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(439-441)Att>Gtt		taste receptor, type 2, member 38							46.0	44.0	45.0					7																	141673051		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673051T>C	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.439A>G	7.37:g.141673051T>C	ENSP00000448219:p.Ile147Val						p.I147V	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	522	-	Melanoma(164;0.0171)		147					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.439A>G	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.407434	0.01155	.	.	ENSG00000257138	ENST00000547270	T	0.37411	1.2	4.7	-1.58	0.08479	.	2.377230	0.02256	N	0.067079	T	0.14013	0.0339	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23084	-1.0198	10	0.02654	T	1	.	3.9799	0.09490	0.1721:0.3174:0.0:0.5105	.	147	P59533	T2R38_HUMAN	V	147	ENSP00000448219:I147V	ENSP00000331291:I147V	I	-	1	0	TAS2R38	141319520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.260000	0.08708	-0.092000	0.12417	-0.408000	0.06270	ATT		0.478	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		6	196	0	0	0	1	0	6	196				
FBXL2	25827	broad.mit.edu	37	3	33420310	33420310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33420310G>T	ENST00000446237.3	+	14	1182	c.158G>T	c.(157-159)gGg>gTg	p.G53V	FBXL2_ENST00000484457.1_Intron|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_Intron|FBXL2_ENST00000283627.6_Intron					F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGCTGTTTGGGTTCTCTTTC	0.393																																						ENST00000446237.3																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(157-159)gGg>gTg		F-box and leucine-rich repeat protein 2																																				SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33420310G>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000446237.3:c.158G>T	3.37:g.33420310G>T	ENSP00000389251:p.Gly53Val					FBXL2_ENST00000484457.1_Intron|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000542085.1_Intron|FBXL2_ENST00000507198.1_Intron	p.G53V			Q9UKC9	FBXL2_HUMAN			14	1182	+			317			F-box.			Missense_Mutation	SNP	ENST00000446237.3	37	c.158G>T		.	.	.	.	.	.	.	.	.	.	G	4.724	0.134621	0.09032	.	.	ENSG00000153558	ENST00000446237	T	0.16457	2.34	3.39	1.37	0.22104	.	.	.	.	.	T	0.14442	0.0349	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31280	-0.9949	5	.	.	.	.	8.2416	0.31662	0.0:0.0:0.5855:0.4145	.	.	.	.	V	53	ENSP00000389251:G53V	.	G	+	2	0	FBXL2	33395314	0.053000	0.20554	0.004000	0.12327	0.082000	0.17680	0.485000	0.22324	0.171000	0.19730	0.543000	0.68304	GGG		0.393	FBXL2-201	KNOWN	basic	protein_coding	protein_coding		NM_012157		34	118	1	0	2.49534e-26	1	2.87403e-26	34	118				
OR8K5	219453	broad.mit.edu	37	11	55927351	55927351	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927351T>G	ENST00000313447.1	-	1	442	c.443A>C	c.(442-444)cAa>cCa	p.Q148P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAGAGATATTGAATGCCCAC	0.413																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(442-444)cAa>cCa		olfactory receptor, family 8, subfamily K, member 5							90.0	91.0	90.0					11																	55927351		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927351T>G	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.443A>C	11.37:g.55927351T>G	ENSP00000323853:p.Gln148Pro						p.Q148P	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	442	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	148					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.443A>C	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.573329	0.00131	.	.	ENSG00000181752	ENST00000313447	T	0.36520	1.25	4.18	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.110804	0.41001	N	0.000980	T	0.06188	0.0160	N	0.00095	-2.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	10	0.07175	T	0.84	.	8.1569	0.31173	0.0873:0.0:0.7549:0.1577	.	148	Q8NH50	OR8K5_HUMAN	P	148	ENSP00000323853:Q148P	ENSP00000323853:Q148P	Q	-	2	0	OR8K5	55683927	0.000000	0.05858	0.022000	0.16811	0.358000	0.29455	-0.388000	0.07352	0.503000	0.28060	-1.479000	0.00991	CAA		0.413	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		59	341	0	0	0	1	0	59	341				
PCED1B	91523	broad.mit.edu	37	12	47472178	47472178	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47472178C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R203Q|AMIGO2_ENST00000266581.4_Missense_Mutation_p.R203Q			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.R203Q(1)									GGAAGGAATTCGGTTATAAGA	0.413																																						ENST00000266581.4																			1	Substitution - Missense(1)	p.R203Q(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(607-609)cGa>cAa		adhesion molecule with Ig-like domain 2							68.0	62.0	64.0					12																	47472178		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472178C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472178C>T	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.R203Q|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R203Q	p.R203Q	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1074	-	Renal(347;0.138)|Lung SC(27;0.192)		203					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.608G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075664	0.36662	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	4.92	0.84	0.18912	.	0.416223	0.20229	N	0.096530	T	0.01523	0.0049	N	0.11106	0.095	0.19575	N	0.999964	B	0.12013	0.005	B	0.14578	0.011	T	0.47289	-0.9129	10	0.28530	T	0.3	-5.6583	4.5798	0.12253	0.1437:0.4512:0.0:0.405	.	203	Q86SJ2	AMGO2_HUMAN	Q	203	ENSP00000266581:R203Q;ENSP00000449034:R203Q;ENSP00000406020:R203Q;ENSP00000320848:R203Q	ENSP00000266581:R203Q	R	-	2	0	AMIGO2	45758445	0.012000	0.17670	0.182000	0.23118	0.880000	0.50808	0.213000	0.17521	0.033000	0.15463	-0.140000	0.14226	CGA		0.413	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		56	288	0	0	0	1	0	56	288				
ARVCF	421	broad.mit.edu	37	22	19963242	19963242	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19963242G>T	ENST00000263207.3	-	11	2218	c.1927C>A	c.(1927-1929)Cta>Ata	p.L643I	ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I|ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	643					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCAGGTCTAGCGTGTCAAAG	0.577																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1927-1929)Cta>Ata		armadillo repeat gene deleted in velocardiofacial syndrome							163.0	115.0	131.0					22																	19963242		2202	4300	6502	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19963242G>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1927C>A	22.37:g.19963242G>T	ENSP00000263207:p.Leu643Ile					ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I	p.L643I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			11	2218	-	Colorectal(54;0.0993)		643					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1927C>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878517	0.17395	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	4.74	1.44	0.22558	Armadillo-type fold (1);	0.152006	0.43747	D	0.000521	T	0.52008	0.1708	N	0.24115	0.695	0.48087	D	0.999584	B;P	0.38551	0.119;0.636	B;B	0.31245	0.109;0.126	T	0.38436	-0.9661	9	.	.	.	-11.7534	8.7502	0.34611	0.2567:0.0:0.7433:0.0	.	643;159	O00192;E7EV58	ARVC_HUMAN;.	I	643;580;580;574;637	ENSP00000263207:L643I;ENSP00000342042:L580I;ENSP00000384341:L580I;ENSP00000384732:L574I;ENSP00000385444:L637I	.	L	-	1	2	ARVCF	18343242	0.925000	0.31364	0.988000	0.46212	0.963000	0.63663	1.335000	0.33839	0.305000	0.22832	0.563000	0.77884	CTA		0.577	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		46	205	1	0	7.34454e-26	1	8.44522e-26	46	205				
RPS6KC1	26750	broad.mit.edu	37	1	213415505	213415505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213415505G>T	ENST00000366960.3	+	11	2836	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	896	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTAGCACTAGCCTCCAGGTT	0.453																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2686-2688)Gcc>Tcc		ribosomal protein S6 kinase, 52kDa, polypeptide 1							81.0	85.0	83.0					1																	213415505		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415505G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2686G>T	1.37:g.213415505G>T	ENSP00000355927:p.Ala896Ser					RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S	p.A896S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2836	+			896			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2686G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	0.428	-0.904641	0.02453	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.91	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.528388	0.23014	N	0.052921	T	0.40322	0.1112	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.27640	-1.0068	10	0.10902	T	0.67	-21.3125	6.305	0.21133	0.7318:0.1345:0.1337:0.0	.	684;896;884	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	684;896;884;599	ENSP00000442306:A684S;ENSP00000355927:A896S;ENSP00000355926:A884S;ENSP00000439282:A599S	ENSP00000355926:A884S	A	+	1	0	RPS6KC1	211482128	0.061000	0.20836	0.057000	0.19452	0.939000	0.58152	2.481000	0.45215	0.471000	0.27319	-0.254000	0.11334	GCC		0.453	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		146	372	1	0	1.55947e-51	1	1.93603e-51	146	372				
CNKSR2	22866	broad.mit.edu	37	X	21519642	21519642	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21519642C>A	ENST00000379510.3	+	8	782	c.746C>A	c.(745-747)cCt>cAt	p.P249H	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P249H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	249	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATTCAGTCACCTGCAGATCGG	0.348																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(745-747)cCt>cAt		connector enhancer of kinase suppressor of Ras 2							47.0	44.0	45.0					X																	21519642		2202	4299	6501	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21519642C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.746C>A	X.37:g.21519642C>A	ENSP00000368824:p.Pro249His					CNKSR2_ENST00000379510.3_Missense_Mutation_p.P249H|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H	p.P249H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			8	1226	+			249			PDZ.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.746C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893322	0.72524	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.98	5.09	0.68999	PDZ/DHR/GLGF (4);	0.057904	0.64402	D	0.000001	T	0.64800	0.2631	M	0.92604	3.325	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.99;0.987;0.992	T	0.74287	-0.3714	10	0.87932	D	0	-18.6417	15.6383	0.76973	0.1375:0.8625:0.0:0.0	.	249;249;249	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	H	249	ENSP00000397906:P249H;ENSP00000444633:P249H;ENSP00000279451:P249H;ENSP00000368824:P249H	ENSP00000279451:P249H	P	+	2	0	CNKSR2	21429563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.174000	0.58256	2.524000	0.85096	0.544000	0.68410	CCT		0.348	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		27	120	1	0	5.61819e-17	1	6.18885e-17	27	120				
SPOCD1	90853	broad.mit.edu	37	1	32279785	32279785	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32279785C>T	ENST00000360482.2	-	2	1279	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	384					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGGTGTCAGCGGGGGCAGCG	0.667																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(1150-1152)Gct>Act		SPOC domain containing 1							13.0	14.0	14.0					1																	32279785		2199	4299	6498	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32279785C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1150G>A	1.37:g.32279785C>T	ENSP00000353670:p.Ala384Thr					SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T	p.A384T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	1279	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	384					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.1150G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803308	0.16397	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.32753	1.93;1.44;1.92	3.31	-6.63	0.01807	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.002	T	0.09314	-1.0680	9	0.25751	T	0.34	10.199	1.901	0.03267	0.4835:0.1905:0.0967:0.2293	.	384;384	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	T	384	ENSP00000353670:A384T;ENSP00000362752:A384T;ENSP00000435851:A384T	ENSP00000353670:A384T	A	-	1	0	SPOCD1	32052372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.614000	0.02057	-3.978000	0.00085	-1.209000	0.01634	GCT		0.667	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		12	75	0	0	0	1	0	12	75				
ARSA	410	broad.mit.edu	37	22	51063696	51063696	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51063696G>A	ENST00000547307.1	-	8	1806	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000453344.2_Silent_p.D383D|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000216124.5_Silent_p.D469D|ARSA_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000395621.3_Silent_p.D469D			P15289	ARSA_HUMAN	arylsulfatase A	467					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	TCACAGCTGCGTCTAACTGGG	0.677																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(1399-1401)gaC>gaT		arylsulfatase A	Micafungin(DB01141)						32.0	33.0	33.0					22																	51063696		2203	4300	6503	SO:0001819	synonymous_variant	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51063696G>A	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1401C>T	22.37:g.51063696G>A						ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000395621.3_Silent_p.D469D|ARSA_ENST00000453344.2_Silent_p.D383D|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000216124.5_Silent_p.D469D	p.D467D			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	8	1806	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	467					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	37	c.1401C>T																																																																																					0.677	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		64	225	0	0	0	1	0	64	225				
SLITRK5	26050	broad.mit.edu	37	13	88329162	88329162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329162C>A	ENST00000325089.6	+	2	1738	c.1519C>A	c.(1519-1521)Ctc>Atc	p.L507I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	507					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGTCCCAAACCTCCAGCTGCT	0.527																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1519-1521)Ctc>Atc		SLIT and NTRK-like family, member 5							70.0	74.0	72.0					13																	88329162		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329162C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1519C>A	13.37:g.88329162C>A	ENSP00000366283:p.Leu507Ile					SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	p.L507I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1738	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		507					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1519C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627042	0.66901	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;D	0.81659	-1.33;-1.52	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	D	0.88716	0.6512	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88461	0.3055	9	.	.	.	-15.8397	16.2866	0.82724	0.0:1.0:0.0:0.0	.	266;507	B4DSH5;O94991	.;SLIK5_HUMAN	I	507;266	ENSP00000366283:L507I;ENSP00000442244:L266I	.	L	+	1	0	SLITRK5	87127163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.080000	0.71299	2.426000	0.82243	0.561000	0.74099	CTC		0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			81	356	1	0	2.13431e-38	1	2.57195e-38	81	356				
ZNF35	7584	broad.mit.edu	37	3	44700999	44700999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44700999C>T	ENST00000396056.2	+	4	1379	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	382					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTACATCAGCGAAGCCATAC	0.468																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(1144-1146)Cga>Tga		zinc finger protein 35							67.0	76.0	73.0					3																	44700999		2203	4300	6503	SO:0001587	stop_gained	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700999C>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1144C>T	3.37:g.44700999C>T	ENSP00000379368:p.Arg382*					ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*|RP11-944L7.4_ENST00000457331.1_RNA	p.R382*	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	1379	+		Ovarian(412;0.0228)	382					B2RBU6|Q53Y54|Q96D01	Nonsense_Mutation	SNP	ENST00000396056.2	37	c.1144C>T	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	C	36	5.886527	0.97068	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	.	.	.	5.29	3.41	0.39046	.	0.000000	0.37669	N	0.001982	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7148	12.6574	0.56795	0.4732:0.5268:0.0:0.0	.	.	.	.	X	382;222	.	ENSP00000379368:R382X	R	+	1	2	ZNF35	44676003	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.397000	0.07269	1.441000	0.47550	0.561000	0.74099	CGA		0.468	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		41	213	0	0	0	1	0	41	213				
ARMC3	219681	broad.mit.edu	37	10	23287157	23287157	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287157C>G	ENST00000298032.5	+	11	1340	c.1256C>G	c.(1255-1257)gCt>gGt	p.A419G	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G|ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	419						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCAACGCTGCTACAGTATTA	0.473																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1255-1257)gCt>gGt		armadillo repeat containing 3							74.0	59.0	64.0					10																	23287157		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23287157C>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1256C>G	10.37:g.23287157C>G	ENSP00000298032:p.Ala419Gly					ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G|ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G	p.A419G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			11	1340	+			419					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1256C>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680206	0.47886	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.277507	0.40728	N	0.001023	D	0.87799	0.6268	M	0.92459	3.31	0.46096	D	0.998869	D;D	0.89917	0.998;1.0	D;D	0.77004	0.969;0.989	D	0.89573	0.3815	10	0.87932	D	0	-29.2057	9.8185	0.40867	0.0:0.7844:0.1399:0.0757	.	419;419	Q5W041-4;Q5W041	.;ARMC3_HUMAN	G	419;419;355;419;156	ENSP00000298032:A419G;ENSP00000386943:A419G;ENSP00000387288:A419G;ENSP00000365711:A156G	ENSP00000298032:A419G	A	+	2	0	ARMC3	23327163	0.993000	0.37304	0.705000	0.30386	0.225000	0.24961	3.558000	0.53749	2.461000	0.83175	0.563000	0.77884	GCT		0.473	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		22	85	0	0	0	1	0	22	85				
WFS1	7466	broad.mit.edu	37	4	6303313	6303313	+	Silent	SNP	C	C	T	rs141883293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303313C>T	ENST00000226760.1	+	8	1961	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	WFS1_ENST00000503569.1_Silent_p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	597					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCACCAAGATCGCAGTCACCG	0.647																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1789-1791)atC>atT		Wolfram syndrome 1 (wolframin)		C	,	2,4404	4.2+/-10.8	0,2,2201	131.0	124.0	126.0		1791,1791	-0.3	0.0	4	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	597/891,597/891	6303313	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303313C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1791C>T	4.37:g.6303313C>T						WFS1_ENST00000503569.1_Silent_p.I597I	p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1961	+			597					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.1791C>T	CCDS3386.1																																																																																				0.647	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			23	624	0	0	0	1	0	23	624				
SUV420H2	84787	broad.mit.edu	37	19	55857588	55857588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55857588C>A	ENST00000255613.3	+	7	826	c.578C>A	c.(577-579)cCt>cAt	p.P193H		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	193	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGTTTGTGCCTGCAGATGGG	0.667																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(577-579)cCt>cAt		suppressor of variegation 4-20 homolog 2 (Drosophila)							113.0	95.0	101.0					19																	55857588		2203	4300	6503	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55857588C>A	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.578C>A	19.37:g.55857588C>A	ENSP00000255613:p.Pro193His						p.P193H	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	7	826	+	Breast(117;0.191)		193			SET.		Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.578C>A	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615474	0.66672	.	.	ENSG00000133247	ENST00000255613	D	0.86694	-2.16	3.93	3.93	0.45458	SET domain (3);	0.000000	0.64402	D	0.000016	D	0.91526	0.7324	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.91151	0.4953	10	0.41790	T	0.15	-17.7373	15.2907	0.73865	0.0:1.0:0.0:0.0	.	193	Q86Y97	SV422_HUMAN	H	193	ENSP00000255613:P193H	ENSP00000255613:P193H	P	+	2	0	SUV420H2	60549400	0.935000	0.31712	0.902000	0.35471	0.572000	0.35998	7.140000	0.77322	2.186000	0.69663	0.655000	0.94253	CCT		0.667	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		73	337	1	0	3.25985e-27	1	3.7718e-27	73	337				
A2M	2	broad.mit.edu	37	12	9252027	9252027	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9252027C>T	ENST00000318602.7	-	14	1958	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	551					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCCCCAATCACGTCCCCGGTA	0.428																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1651-1653)Gtg>Atg		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						73.0	68.0	69.0					12																	9252027		1911	4138	6049	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9252027C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1651G>A	12.37:g.9252027C>T	ENSP00000323929:p.Val551Met						p.V551M	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			14	1958	-			551					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1651G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633547	0.29068	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.66280	-0.2	5.27	2.42	0.29668	Alpha-2-macroglobulin, N-terminal 2 (1);	0.194485	0.35378	N	0.003256	T	0.56001	0.1956	L	0.55017	1.72	0.29656	N	0.843599	D	0.60160	0.987	P	0.49953	0.627	T	0.54430	-0.8295	10	0.36615	T	0.2	.	2.0669	0.03605	0.1381:0.4841:0.1345:0.2432	.	551	P01023	A2MG_HUMAN	M	551;566	ENSP00000323929:V551M	ENSP00000323929:V551M	V	-	1	0	A2M	9143294	0.012000	0.17670	0.938000	0.37757	0.322000	0.28314	-0.124000	0.10595	0.723000	0.32274	-0.136000	0.14681	GTG		0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		6	27	0	0	0	1	0	6	27				
CHAF1A	10036	broad.mit.edu	37	19	4432089	4432089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432089C>T	ENST00000301280.5	+	12	2189	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	696	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGACTGCGCAGGCGATG	0.637								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2086-2088)tgC>tgT	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							78.0	68.0	72.0					19																	4432089		2203	4300	6503	SO:0001819	synonymous_variant	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4432089C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2088C>T	19.37:g.4432089C>T						CHAF1A_ENST00000587368.1_3'UTR	p.C696C	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2189	+		Hepatocellular(1079;0.137)	696			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	c.2088C>T	CCDS32875.1																																																																																				0.637	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		102	380	0	0	0	1	0	102	380				
ASGR2	433	broad.mit.edu	37	17	7012170	7012170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7012170G>A	ENST00000380952.2	-	3	426	c.162C>T	c.(160-162)tgC>tgT	p.C54C	ASGR2_ENST00000254850.7_Silent_p.C35C|ASGR2_ENST00000446679.2_Silent_p.C35C|ASGR2_ENST00000355035.5_Silent_p.C54C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	54					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGACCATGGAGCAGAGACGCT	0.647																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(160-162)tgC>tgT		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						51.0	39.0	43.0					17																	7012170		2203	4300	6503	SO:0001819	synonymous_variant	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7012170G>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.162C>T	17.37:g.7012170G>A						ASGR2_ENST00000254850.7_Silent_p.C35C|ASGR2_ENST00000446679.2_Silent_p.C35C|ASGR2_ENST00000355035.5_Silent_p.C54C	p.C54C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			3	426	-			54					A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Silent	SNP	ENST00000380952.2	37	c.162C>T	CCDS32544.1																																																																																				0.647	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		21	81	0	0	0	1	0	21	81				
KCNA1	3736	broad.mit.edu	37	12	5021067	5021067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021067A>G	ENST00000382545.3	+	2	1630	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	175					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CGTCTCCGTCATGGTCATCCT	0.627																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(523-525)Atg>Gtg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						90.0	88.0	89.0					12																	5021067		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021067A>G	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.523A>G	12.37:g.5021067A>G	ENSP00000371985:p.Met175Val					KCNA1_ENST00000543874.2_Intron	p.M175V	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1630	+			175					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.523A>G	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	9.495	1.101671	0.20632	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.67865	-0.29	4.71	3.54	0.40534	.	0.040366	0.85682	D	0.000000	T	0.54870	0.1885	L	0.37850	1.14	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.51980	-0.8636	10	0.49607	T	0.09	.	11.076	0.48032	0.8442:0.1558:0.0:0.0	.	175	Q09470	KCNA1_HUMAN	V	175	ENSP00000371985:M175V	ENSP00000228858:M175V	M	+	1	0	KCNA1	4891328	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	5.838000	0.69388	0.917000	0.36895	-0.313000	0.08912	ATG		0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		65	480	0	0	0	1	0	65	480				
NR5A1	2516	broad.mit.edu	37	9	127262888	127262888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127262888G>A	ENST00000373588.4	-	4	547	c.351C>T	c.(349-351)ggC>ggT	p.G117G		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	117					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						CCAGCTTGAAGCCATTGGCCC	0.672																																						ENST00000373588.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(349-351)ggC>ggT		nuclear receptor subfamily 5, group A, member 1							33.0	36.0	35.0					9																	127262888		2145	4137	6282	SO:0001819	synonymous_variant	2516				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr9:127262888G>A	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"""Nuclear hormone receptors"""	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.351C>T	9.37:g.127262888G>A							p.G117G	NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN			4	547	-			117					O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	c.351C>T	CCDS6856.1																																																																																				0.672	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		47	188	0	0	0	1	0	47	188				
ANPEP	290	broad.mit.edu	37	15	90348375	90348375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90348375C>T	ENST00000300060.6	-	4	1144	c.831G>A	c.(829-831)acG>acA	p.T277T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	277	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.T277T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CCAGCAAGTACGTGGACATCT	0.567																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			1	Substitution - coding silent(1)	p.T277T(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(829-831)acG>acA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						335.0	277.0	297.0					15																	90348375		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348375C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.831G>A	15.37:g.90348375C>T							p.T277T	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		4	1144	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		277			Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.831G>A	CCDS10356.1																																																																																				0.567	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			164	720	0	0	0	1	0	164	720				
MKI67	4288	broad.mit.edu	37	10	129906523	129906523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906523G>A	ENST00000368654.3	-	13	3956	c.3581C>T	c.(3580-3582)cCa>cTa	p.P1194L	MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1194	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTGCACTGGAGTTCCCAT	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3580-3582)cCa>cTa		marker of proliferation Ki-67							205.0	195.0	198.0					10																	129906523		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906523G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3581C>T	10.37:g.129906523G>A	ENSP00000357643:p.Pro1194Leu					MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	p.P1194L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3956	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1194			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3581C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523639	0.64747	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.99	3.99	0.46301	.	1.135460	0.06812	N	0.790500	T	0.13628	0.0330	M	0.74647	2.275	0.46725	D	0.99917	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77557	0.947;0.963;0.99	T	0.00783	-1.1568	10	0.40728	T	0.16	.	14.6341	0.68676	0.0:0.0:1.0:0.0	.	1193;834;1194	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1194;834;1193	ENSP00000357643:P1194L;ENSP00000357642:P834L	ENSP00000357642:P834L	P	-	2	0	MKI67	129796513	0.540000	0.26410	0.041000	0.18516	0.057000	0.15508	2.410000	0.44592	1.956000	0.56807	0.462000	0.41574	CCA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		30	1139	0	0	0	1	0	30	1139				
GLB1L	79411	broad.mit.edu	37	2	220102328	220102328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220102328G>T	ENST00000295759.7	-	16	1908	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H|GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	532					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGCTTGAGGATATGGCCA	0.458																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1594-1596)cCt>cAt		galactosidase, beta 1-like							88.0	91.0	90.0					2																	220102328		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220102328G>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1595C>A	2.37:g.220102328G>T	ENSP00000295759:p.Pro532His					GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H	p.P532H			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1908	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	532					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1595C>A	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136592	0.09032	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.09	1.17	0.20885	Galactose-binding domain-like (1);	0.645122	0.15254	N	0.272188	D	0.89146	0.6632	L	0.38175	1.15	0.09310	N	1	B;P	0.50943	0.001;0.94	B;P	0.50192	0.003;0.634	T	0.80580	-0.1319	10	0.44086	T	0.13	-0.3405	1.9772	0.03418	0.2197:0.1138:0.4649:0.2016	.	442;532	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	H	532;442;532;442	ENSP00000295759:P532H;ENSP00000386354:P442H;ENSP00000375939:P532H;ENSP00000348628:P442H	ENSP00000295759:P532H	P	-	2	0	GLB1L	219810572	0.070000	0.21116	0.018000	0.16275	0.438000	0.31896	0.519000	0.22862	0.735000	0.32537	0.655000	0.94253	CCT		0.458	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		123	404	1	0	6.83383e-50	1	8.46023e-50	123	404				
STEAP4	79689	broad.mit.edu	37	7	87912325	87912325	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87912325A>C	ENST00000380079.4	-	3	716	c.615T>G	c.(613-615)taT>taG	p.Y205*	STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	205					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAGCAGACAAATAGAAGGGGA	0.388																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(613-615)taT>taG		STEAP family member 4							85.0	81.0	82.0					7																	87912325		1875	4106	5981	SO:0001587	stop_gained	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912325A>C	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.615T>G	7.37:g.87912325A>C	ENSP00000369419:p.Tyr205*					AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA	p.Y205*	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			3	716	-	Esophageal squamous(14;0.00802)		205					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Nonsense_Mutation	SNP	ENST00000380079.4	37	c.615T>G	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205892	0.79127	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	.	.	.	6.08	-2.39	0.06602	.	0.397244	0.30800	N	0.008860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0254	4.0244	0.09680	0.4369:0.1028:0.3604:0.0999	.	.	.	.	X	205	.	ENSP00000369419:Y205X	Y	-	3	2	STEAP4	87750261	0.001000	0.12720	0.996000	0.52242	0.971000	0.66376	0.360000	0.20250	-0.059000	0.13154	0.482000	0.46254	TAT		0.388	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		63	300	0	0	0	1	0	63	300				
PUF60	22827	broad.mit.edu	37	8	144899948	144899948	+	Silent	SNP	G	G	A	rs373613651	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144899948G>A	ENST00000526683.1	-	9	1377	c.822C>T	c.(820-822)taC>taT	p.Y274Y	SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Silent_p.Y257Y|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000527197.1_Silent_p.Y228Y|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000456095.2_Silent_p.Y245Y|PUF60_ENST00000313352.7_Silent_p.Y214Y	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	274	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCTTCTCGTACTCTGTGG	0.642													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.0					ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(820-822)taC>taT		poly-U binding splicing factor 60KDa		G	,,	0,4302		0,0,2151	20.0	26.0	24.0		693,771,822	-1.6	1.0	8		24	2,8496		0,2,4247	no	coding-synonymous,coding-synonymous,coding-synonymous	PUF60	NM_001136033.1,NM_014281.3,NM_078480.1	,,	0,2,6398	AA,AG,GG		0.0235,0.0,0.0156	,,	231/517,257/543,274/560	144899948	2,12798	2151	4249	6400	SO:0001819	synonymous_variant	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144899948G>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.822C>T	8.37:g.144899948G>A						PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Silent_p.Y257Y|PUF60_ENST00000527197.1_Silent_p.Y228Y|PUF60_ENST00000313352.7_Silent_p.Y214Y|PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000456095.2_Silent_p.Y245Y	p.Y274Y	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		9	1377	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		274			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	37	c.822C>T	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174581	0.09391	0.0	2.35E-4	ENSG00000179950	ENST00000532884;ENST00000527744	.	.	.	3.92	-1.58	0.08479	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48896	-0.8994	4	.	.	.	.	9.2127	0.37328	0.7488:0.0:0.2512:0.0	.	.	.	.	M	144;272	.	.	T	-	2	0	PUF60	144971936	0.069000	0.21087	0.994000	0.49952	0.853000	0.48598	-0.440000	0.06888	-0.350000	0.08262	-1.119000	0.02030	ACG		0.642	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		26	94	0	0	0	1	0	26	94				
CSPG5	10675	broad.mit.edu	37	3	47619042	47619042	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47619042G>A	ENST00000383738.2	-	2	2572	c.474C>T	c.(472-474)ggC>ggT	p.G158G	CSPG5_ENST00000264723.4_Silent_p.G158G|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.G20G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	158					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGCTTGTCGCCGGGGGTGG	0.667																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(472-474)ggC>ggT		chondroitin sulfate proteoglycan 5 (neuroglycan C)							26.0	33.0	31.0					3																	47619042		2195	4292	6487	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619042G>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.474C>T	3.37:g.47619042G>A						CSPG5_ENST00000456150.1_Silent_p.G20G|CSPG5_ENST00000264723.4_Silent_p.G158G	p.G158G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	2572	-			158					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.474C>T	CCDS56253.1																																																																																				0.667	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		90	353	0	0	0	1	0	90	353				
PEX5L	51555	broad.mit.edu	37	3	179525504	179525504	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179525504C>A	ENST00000467460.1	-	14	1964	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	545					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TAGGTTGTATCTGGACCGGAT	0.577																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1633-1635)aGa>aTa		peroxisomal biogenesis factor 5-like							177.0	173.0	174.0					3																	179525504		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179525504C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1634G>T	3.37:g.179525504C>A	ENSP00000419975:p.Arg545Ile					PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000467440.2_5'UTR	p.R545I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		14	1964	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		545					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1634G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371430	0.95923	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.997;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.94;0.913;0.964	T	0.77429	-0.2591	10	0.87932	D	0	-21.9465	20.6525	0.99598	0.0:1.0:0.0:0.0	.	486;521;437;543;510;545	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	I	545;543;510;543;437;353;502;433;486;437;521	ENSP00000419975:R545I;ENSP00000263962:R543I;ENSP00000418440:R510I;ENSP00000376420:R437I;ENSP00000418665:R353I;ENSP00000420555:R502I;ENSP00000418054:R486I;ENSP00000417270:R437I;ENSP00000419348:R521I	ENSP00000263962:R543I	R	-	2	0	PEX5L	181008198	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	AGA		0.577	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		231	893	1	0	6.04794e-90	1	7.76205e-90	231	893				
FAM160A2	84067	broad.mit.edu	37	11	6238932	6238932	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6238932A>G	ENST00000449352.2	-	9	2147	c.1884T>C	c.(1882-1884)ggT>ggC	p.G628G	FAM160A2_ENST00000524416.1_Silent_p.G628G|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Silent_p.G642G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	628					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGGCAGGTGACCAGGGccct	0.667																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1924-1926)ggT>ggC		family with sequence similarity 160, member A2							20.0	22.0	21.0					11																	6238932		2197	4287	6484	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6238932A>G		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1884T>C	11.37:g.6238932A>G						FAM160A2_ENST00000524416.1_Silent_p.G628G|FAM160A2_ENST00000449352.2_Silent_p.G628G	p.G642G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			9	2284	-			628					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1926T>C	CCDS44530.1																																																																																				0.667	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		40	147	0	0	0	1	0	40	147				
COL18A1	80781	broad.mit.edu	37	21	46911190	46911190	+	Missense_Mutation	SNP	G	G	A	rs375408962		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46911190G>A	ENST00000359759.4	+	21	3385	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R|COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1122	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGCCCCCCCGGACCCCCGGG	0.687																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3364-3366)Gga>Aga		collagen, type XVIII, alpha 1		G	ARG/GLY,ARG/GLY	0,3834		0,0,1917	18.0	24.0	22.0		2659,2119	3.8	1.0	21		22	1,8187		0,1,4093	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	125,125	0,1,6010	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	887/1520,707/1340	46911190	1,12021	1917	4094	6011	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46911190G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3364G>A	21.37:g.46911190G>A	ENSP00000352798:p.Gly1122Arg					COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R	p.G1122R			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	21	3385	+			1122			Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3364G>A		.	.	.	.	.	.	.	.	.	.	G	17.78	3.473025	0.63737	0.0	1.22E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	D	0.99411	0.9792	H	0.97635	4.045	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98124	1.0427	10	0.72032	D	0.01	.	13.6811	0.62487	0.0:0.0:1.0:0.0	.	1122;887;707	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	R	707;707;887;1122;1122;54	ENSP00000383191:G707R;ENSP00000347665:G887R;ENSP00000352798:G1122R;ENSP00000339118:G54R	ENSP00000339118:G54R	G	+	1	0	COL18A1	45735618	0.953000	0.32496	0.963000	0.40424	0.253000	0.25986	1.790000	0.38734	2.159000	0.67721	0.561000	0.74099	GGA		0.687	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			30	142	0	0	0	1	0	30	142				
SCN5A	6331	broad.mit.edu	37	3	38645261	38645261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38645261G>A	ENST00000333535.4	-	12	1981	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	SCN5A_ENST00000413689.1_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A611V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	611					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGGATGTGGCCTCTGGGTC	0.647																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1831-1833)gCc>gTc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						46.0	50.0	48.0					3																	38645261		2055	4201	6256	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645261G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1832C>T	3.37:g.38645261G>A	ENSP00000328968:p.Ala611Val					SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A611V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A611V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V	p.A611V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	2025	-	Medulloblastoma(35;0.163)		611					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1832C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919858	0.33908	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.18	4.18	0.49190	Domain of unknown function DUF3451 (1);	0.829884	0.10873	N	0.624714	D	0.87341	0.6153	L	0.34521	1.04	0.35038	D	0.759426	B;P;B;B;P;P;P	0.44627	0.042;0.684;0.137;0.042;0.631;0.688;0.839	B;B;B;B;B;B;B	0.43536	0.062;0.423;0.085;0.098;0.328;0.218;0.423	D	0.85654	0.1284	10	0.18276	T	0.48	.	16.6938	0.85329	0.0:0.0:1.0:0.0	.	611;611;611;611;611;611;611	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	611	ENSP00000398962:A611V;ENSP00000398266:A611V;ENSP00000410257:A611V;ENSP00000388797:A611V;ENSP00000397915:A611V;ENSP00000416634:A611V;ENSP00000328968:A611V;ENSP00000399524:A611V;ENSP00000403355:A611V;ENSP00000413996:A611V	ENSP00000328968:A611V	A	-	2	0	SCN5A	38620265	1.000000	0.71417	0.992000	0.48379	0.667000	0.39255	7.334000	0.79224	2.164000	0.68074	0.561000	0.74099	GCC		0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	390	0	0	0	1	0	7	390				
HRASLS5	117245	broad.mit.edu	37	11	63257730	63257730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63257730C>T	ENST00000301790.4	-	2	413	c.254G>A	c.(253-255)aGa>aAa	p.R85K	HRASLS5_ENST00000539221.1_Missense_Mutation_p.R85K|HRASLS5_ENST00000540857.1_Missense_Mutation_p.R75K			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	85							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGGATGCTTCTGCCCTGTTC	0.493																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(223-225)aGa>aAa		HRAS-like suppressor family, member 5							198.0	224.0	215.0					11																	63257730		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63257730C>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.254G>A	11.37:g.63257730C>T	ENSP00000301790:p.Arg85Lys					HRASLS5_ENST00000301790.4_Missense_Mutation_p.R85K|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R85K	p.R75K	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			2	356	-			85					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.224G>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785824	0.31593	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.28666	1.6;2.1;1.61	3.75	-1.76	0.08006	.	5.966510	0.00357	N	0.000021	T	0.22551	0.0544	L	0.32530	0.975	0.09310	N	1	B;B;B	0.33103	0.397;0.017;0.231	B;B;B	0.34722	0.188;0.005;0.058	T	0.15263	-1.0443	10	0.66056	D	0.02	-24.3145	0.7116	0.00925	0.1686:0.3593:0.1649:0.3072	.	85;75;85	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	K	75;85;85	ENSP00000444809:R75K;ENSP00000443873:R85K;ENSP00000301790:R85K	ENSP00000301790:R85K	R	-	2	0	HRASLS5	63014306	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.857000	0.04286	-0.330000	0.08514	-0.140000	0.14226	AGA		0.493	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		346	1492	0	0	0	1	0	346	1492				
BRD3	8019	broad.mit.edu	37	9	136913346	136913346	+	Silent	SNP	G	G	A	rs200782945		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913346G>A	ENST00000303407.7	-	6	1130	c.945C>T	c.(943-945)tgC>tgT	p.C315C	BRD3_ENST00000371834.2_Silent_p.C315C|BRD3_ENST00000357885.2_Silent_p.C315C	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	315					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGATGCTGTCGCAGTAGCGTA	0.642			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(943-945)tgC>tgT		bromodomain containing 3		G		0,4406		0,0,2203	85.0	61.0	69.0		945	-4.3	1.0	9		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		315/727	136913346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136913346G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.945C>T	9.37:g.136913346G>A						BRD3_ENST00000371834.2_Silent_p.C315C|BRD3_ENST00000357885.2_Silent_p.C315C	p.C315C	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	6	1130	-			315					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.945C>T	CCDS6980.1																																																																																				0.642	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		23	149	0	0	0	1	0	23	149				
B4GALNT4	338707	broad.mit.edu	37	11	376150	376150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:376150G>A	ENST00000329962.6	+	12	1172	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	391					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTTCTACCGCGAGTCTCCG	0.692																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1171-1173)cGc>cAc		beta-1,4-N-acetyl-galactosaminyl transferase 4							29.0	28.0	29.0					11																	376150		2201	4290	6491	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376150G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1172G>A	11.37:g.376150G>A	ENSP00000328277:p.Arg391His						p.R391H	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1172	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	391					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.1172G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.520086	0.85495	.	.	ENSG00000182272	ENST00000329962	T	0.72615	-0.67	3.01	3.01	0.34805	.	0.137013	0.44688	D	0.000430	T	0.79953	0.4535	L	0.55990	1.75	0.49213	D	0.999765	D	0.89917	1.0	D	0.80764	0.994	T	0.83037	-0.0159	10	0.72032	D	0.01	-20.3149	15.2295	0.73374	0.0:0.0:1.0:0.0	.	391	Q76KP1	B4GN4_HUMAN	H	391	ENSP00000328277:R391H	ENSP00000328277:R391H	R	+	2	0	B4GALNT4	366150	1.000000	0.71417	0.977000	0.42913	0.875000	0.50365	5.187000	0.65087	1.978000	0.57642	0.436000	0.28706	CGC		0.692	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		37	185	0	0	0	1	0	37	185				
GLTSCR2	29997	broad.mit.edu	37	19	48258122	48258122	+	Missense_Mutation	SNP	C	C	T	rs536507041		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48258122C>T	ENST00000246802.5	+	8	1065	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	343						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GCAGCAGCGGCGGCGGGAGAA	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		11236	0.0		0.0	False		,,,				2504	0.001				Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(1027-1029)Cgg>Tgg		glioma tumor suppressor candidate region gene 2							5.0	9.0	8.0					19																	48258122		2077	4130	6207	SO:0001583	missense	29997					nucleolus		g.chr19:48258122C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1027C>T	19.37:g.48258122C>T	ENSP00000246802:p.Arg343Trp					GLTSCR2_ENST00000598681.1_3'UTR	p.R343W	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	8	1065	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	343					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.1027C>T	CCDS12705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.24|14.24	2.477870|2.477870	0.44044|0.44044	.|.	.|.	ENSG00000105373|ENSG00000105373	ENST00000325566|ENST00000246802	.|T	.|0.50001	.|0.76	3.84|3.84	2.7|2.7	0.31948|0.31948	.|.	.|0.126503	.|0.50627	.|D	.|0.000111	T|T	0.62295|0.62295	0.2416|0.2416	M|M	0.80422|0.80422	2.495|2.495	0.42653|0.42653	D|D	0.993456|0.993456	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;P;P	.|0.63033	.|0.91;0.88;0.828	T|T	0.65726|0.65726	-0.6098|-0.6098	6|10	0.54805|0.59425	T|D	0.06|0.04	-20.7609|-20.7609	8.0244|8.0244	0.30427|0.30427	0.2428:0.7572:0.0:0.0|0.2428:0.7572:0.0:0.0	.|.	.|343;343;341	.|Q53YP0;Q9NZM5;Q96CS0	.|.;GSCR2_HUMAN;.	V|W	341|343	.|ENSP00000246802:R343W	ENSP00000324079:A341V|ENSP00000246802:R343W	A|R	+|+	2|1	0|2	GLTSCR2|GLTSCR2	52949934|52949934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.081000|0.081000	0.17604|0.17604	2.674000|2.674000	0.46867|0.46867	2.123000|2.123000	0.65237|0.65237	0.411000|0.411000	0.27672|0.27672	GCG|CGG		0.726	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		5	34	0	0	0	1	0	5	34				
CNTN1	1272	broad.mit.edu	37	12	41333262	41333262	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41333262A>G	ENST00000551295.2	+	12	1471	c.1354A>G	c.(1354-1356)Aca>Gca	p.T452A	CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	452	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGTAAAGGGACAGAGTGGCT	0.378																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1354-1356)Aca>Gca		contactin 1							74.0	74.0	74.0					12																	41333262		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41333262A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1354A>G	12.37:g.41333262A>G	ENSP00000447006:p.Thr452Ala					CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A	p.T452A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			12	1471	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	452			Ig-like C2-type 5.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1354A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244033	0.39697	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.33189	0.99	0.46167	D	0.998905	B;P;P	0.45396	0.184;0.828;0.857	B;P;P	0.48982	0.101;0.462;0.597	T	0.02966	-1.1088	10	0.08837	T	0.75	.	10.6344	0.45556	0.9235:0.0:0.0765:0.0	.	452;441;452	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	A	452;452;452;452;452;441	ENSP00000448004:T452A;ENSP00000447006:T452A;ENSP00000448653:T452A;ENSP00000325660:T452A;ENSP00000353213:T452A;ENSP00000261160:T441A	ENSP00000325660:T452A	T	+	1	0	CNTN1	39619529	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	5.584000	0.67490	2.172000	0.68678	0.459000	0.35465	ACA		0.378	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		45	204	0	0	0	1	0	45	204				
NYNRIN	57523	broad.mit.edu	37	14	24886379	24886379	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24886379G>A	ENST00000382554.3	+	9	5742	c.5424G>A	c.(5422-5424)gcG>gcA	p.A1808A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1808					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGACAAGGCGAGTGAAAAGG	0.582																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5422-5424)gcG>gcA		NYN domain and retroviral integrase containing							72.0	80.0	78.0					14																	24886379		2041	4193	6234	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886379G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5424G>A	14.37:g.24886379G>A							p.A1808A	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5742	+			1808					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.5424G>A	CCDS45090.1																																																																																				0.582	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			62	331	0	0	0	1	0	62	331				
CCDC88C	440193	broad.mit.edu	37	14	91749816	91749816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91749816C>A	ENST00000389857.6	-	26	4573	c.4487G>T	c.(4486-4488)aGc>aTc	p.S1496I	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1496					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCGGTCAAGGCTGCCTCTGTG	0.607																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(4486-4488)aGc>aTc		coiled-coil domain containing 88C							47.0	52.0	51.0					14																	91749816		2053	4177	6230	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91749816C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4487G>T	14.37:g.91749816C>A	ENSP00000374507:p.Ser1496Ile					CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	p.S1496I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			26	4573	-		all_cancers(154;0.0468)	1496					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.4487G>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823460	0.32237	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.55930	1.95;0.49	5.67	4.77	0.60923	.	0.656995	0.13910	U	0.354299	T	0.58452	0.2123	M	0.64997	1.995	0.32828	D	0.503644	P;P	0.49783	0.716;0.928	B;P	0.46253	0.312;0.509	T	0.70510	-0.4852	10	0.72032	D	0.01	-15.6755	15.2156	0.73264	0.0:0.8605:0.1395:0.0	.	1496;20	Q9P219;Q9P219-2	DAPLE_HUMAN;.	I	1496;20;20	ENSP00000374507:S1496I;ENSP00000330332:S20I	ENSP00000330332:S20I	S	-	2	0	CCDC88C	90819569	1.000000	0.71417	0.768000	0.31515	0.040000	0.13550	2.576000	0.46033	1.377000	0.46286	0.655000	0.94253	AGC		0.607	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		11	112	1	0	0.000673444	1	0.000681208	11	112				
OR10X1	128367	broad.mit.edu	37	1	158548816	158548816	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548816T>C	ENST00000368150.1	-	1	873	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTAATGACAGTATAAGGGACT	0.433																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(874-876)Act>Gct		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							107.0	111.0	110.0					1																	158548816		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548816T>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.874A>G	1.37:g.158548816T>C	ENSP00000357132:p.Thr292Ala						p.T292A	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	873	-	all_hematologic(112;0.0378)		292					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.874A>G	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419284	0.62622	.	.	ENSG00000186400	ENST00000368150	T	0.00235	8.48	4.5	4.5	0.54988	.	0.000000	0.50627	D	0.000119	T	0.00241	0.0007	M	0.66297	2.02	0.27388	N	0.955216	D	0.76494	0.999	D	0.87578	0.998	T	0.50363	-0.8837	10	0.48119	T	0.1	.	13.2141	0.59849	0.0:0.0:0.0:1.0	.	292	Q8NGY0	O10X1_HUMAN	A	292	ENSP00000357132:T292A	ENSP00000357132:T292A	T	-	1	0	OR10X1	156815440	0.999000	0.42202	0.879000	0.34478	0.978000	0.69477	1.571000	0.36450	2.001000	0.58596	0.460000	0.39030	ACT		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		28	786	0	0	0	1	0	28	786				
TTYH3	80727	broad.mit.edu	37	7	2697971	2697971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2697971G>A	ENST00000258796.7	+	12	1507	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	TTYH3_ENST00000407643.1_Silent_p.A402A|TTYH3_ENST00000403167.1_Silent_p.A263A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	434					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCGGCAGGCGCACGACAGCC	0.701																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1300-1302)gcG>gcA		tweety family member 3							18.0	16.0	17.0					7																	2697971		2187	4281	6468	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2697971G>A		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1302G>A	7.37:g.2697971G>A						TTYH3_ENST00000403167.1_Silent_p.A263A|TTYH3_ENST00000407643.1_Silent_p.A402A	p.A434A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	12	1507	+		Ovarian(82;0.0112)	434					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.1302G>A	CCDS34588.1																																																																																				0.701	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		19	92	0	0	0	1	0	19	92				
MGAT3	4248	broad.mit.edu	37	22	39883623	39883623	+	Missense_Mutation	SNP	G	G	A	rs369875382		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39883623G>A	ENST00000341184.6	+	2	486	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	91					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CAAGGCGGCCGAGGAGCTCCA	0.697																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(271-273)Gag>Aag		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase		G	LYS/GLU,LYS/GLU	0,4384		0,0,2192	19.0	24.0	22.0		271,271	4.9	0.8	22		22	1,8559		0,1,4279	no	missense,missense	MGAT3	NM_001098270.1,NM_002409.4	56,56	0,1,6471	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	91/534,91/534	39883623	1,12943	2192	4280	6472	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883623G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.271G>A	22.37:g.39883623G>A	ENSP00000345270:p.Glu91Lys						p.E91K	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	486	+	Melanoma(58;0.04)		91					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.271G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089656	0.36855	0.0	1.17E-4	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	4.93	4.93	0.64822	.	0.209294	0.40385	N	0.001102	T	0.48943	0.1528	L	0.27053	0.805	0.38999	D	0.959309	D	0.61080	0.989	P	0.47573	0.55	T	0.56914	-0.7900	9	0.54805	T	0.06	.	18.1411	0.89639	0.0:0.0:1.0:0.0	.	91	Q09327	MGAT3_HUMAN	K	91	.	ENSP00000345270:E91K	E	+	1	0	MGAT3	38213569	1.000000	0.71417	0.790000	0.31976	0.406000	0.30931	5.095000	0.64529	2.281000	0.76405	0.467000	0.42956	GAG		0.697	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		84	342	0	0	0	1	0	84	342				
BBX	56987	broad.mit.edu	37	3	107524307	107524307	+	3'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107524307C>T	ENST00000325805.8	+	0	3116				BBX_ENST00000416476.2_Missense_Mutation_p.A607V|BBX_ENST00000415149.2_3'UTR|BBX_ENST00000406780.1_3'UTR|BBX_ENST00000402543.1_3'UTR			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)						bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCAGTGAAGCGCCCTTTCAT	0.468																																						ENST00000416476.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1819-1821)gCg>gTg		bobby sox homolog (Drosophila)							94.0	92.0	93.0					3																	107524307		2203	4300	6503	SO:0001624	3_prime_UTR_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107524307C>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.*3C>T	3.37:g.107524307C>T						BBX_ENST00000325805.8_3'UTR|BBX_ENST00000415149.2_3'UTR|BBX_ENST00000406780.1_3'UTR|BBX_ENST00000402543.1_3'UTR	p.A607V			Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		17	2040	+			0					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1820C>T	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052519	0.55218	.	.	ENSG00000114439	ENST00000416476	D	0.99005	-5.32	6.16	6.16	0.99307	.	.	.	.	.	D	0.99390	0.9785	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99342	1.0912	8	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	607	A2RRM7	.	V	607	ENSP00000403860:A607V	ENSP00000403860:A607V	A	+	2	0	BBX	109006997	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.298000	0.51818	2.937000	0.99478	0.650000	0.86243	GCG		0.468	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		102	436	0	0	0	1	0	102	436				
SLC18A3	6572	broad.mit.edu	37	10	50819143	50819143	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819143C>T	ENST00000374115.3	+	1	797	c.357C>T	c.(355-357)agC>agT	p.S119S	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	119					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTACGGAGAGCGAAGACGTGA	0.652																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(355-357)agC>agT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							78.0	79.0	79.0					10																	50819143		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819143C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.357C>T	10.37:g.50819143C>T						CHAT_ENST00000339797.1_Intron	p.S119S	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	797	+			119					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.357C>T	CCDS7231.1																																																																																				0.652	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		55	550	0	0	0	1	0	55	550				
GPR26	2849	broad.mit.edu	37	10	125426094	125426094	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125426094G>A	ENST00000284674.1	+	1	224	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	57					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGTGCACCGTGGTCAACATGC	0.721																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(169-171)gtG>gtA		G protein-coupled receptor 26							10.0	10.0	10.0					10																	125426094		2172	4269	6441	SO:0001819	synonymous_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426094G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.171G>A	10.37:g.125426094G>A							p.V57V	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	224	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	57					Q2M2E2	Silent	SNP	ENST00000284674.1	37	c.171G>A	CCDS7636.1																																																																																				0.721	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			11	58	0	0	0	1	0	11	58				
DPP4	1803	broad.mit.edu	37	2	162865071	162865071	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162865071C>T	ENST00000360534.3	-	22	2548		c.e22+1		DPP4_ENST00000491591.1_Splice_Site	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAATTACATACCATAGTACTC	0.478																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.e22+1		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						79.0	75.0	76.0					2																	162865071		2203	4300	6503	SO:0001630	splice_region_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865071C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1987+1G>A	2.37:g.162865071C>T						DPP4_ENST00000491591.1_Splice_Site		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			22	2548	-								Q53TN1	Splice_Site	SNP	ENST00000360534.3	37		CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018506	0.93404	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP4	162573317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	.		0.478	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		Intron	76	253	0	0	0	1	0	76	253				
C1orf43	25912	broad.mit.edu	37	1	154185064	154185064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154185064G>A	ENST00000368521.5	-	5	575	c.377C>T	c.(376-378)tCc>tTc	p.S126F	C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F|C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	126						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCCCATTAAGGAACGGGGATG	0.443																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(376-378)tCc>tTc		chromosome 1 open reading frame 43							62.0	60.0	61.0					1																	154185064		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154185064G>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.377C>T	1.37:g.154185064G>A	ENSP00000357507:p.Ser126Phe					C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F|C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F	p.S126F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			5	575	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		126					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.377C>T	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450681	0.26074	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	3.5	0.40072	.	0.105696	0.64402	D	0.000003	T	0.43211	0.1237	L	0.60455	1.87	0.50039	D	0.999843	B;B;B;B;B	0.24258	0.028;0.082;0.089;0.008;0.1	B;B;B;B;B	0.29942	0.027;0.039;0.109;0.01;0.066	T	0.48758	-0.9007	9	0.59425	D	0.04	-18.5473	9.4956	0.38986	0.0739:0.0:0.7829:0.1433	.	108;92;126;74;92	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	F	92;126;74;108;126;92	.	ENSP00000271925:S92F	S	-	2	0	C1orf43	152451688	1.000000	0.71417	0.990000	0.47175	0.313000	0.28021	6.720000	0.74723	0.820000	0.34516	-0.302000	0.09304	TCC		0.443	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		24	267	0	0	0	1	0	24	267				
MTMR14	64419	broad.mit.edu	37	3	9726291	9726291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726291C>T	ENST00000296003.4	+	11	1109	c.987C>T	c.(985-987)caC>caT	p.H329H	MTMR14_ENST00000351233.5_Silent_p.H329H|MTMR14_ENST00000353332.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	329					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGCTGGTACACTGTATCTCAG	0.582																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(985-987)caC>caT		myotubularin related protein 14							134.0	132.0	132.0					3																	9726291		2023	4173	6196	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9726291C>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.987C>T	3.37:g.9726291C>T						MTMR14_ENST00000353332.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H|MTMR14_ENST00000351233.5_Silent_p.H329H	p.H329H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			11	1109	+	Medulloblastoma(99;0.227)		329					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.987C>T	CCDS43043.1																																																																																				0.582	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		90	451	0	0	0	1	0	90	451				
WDR73	84942	broad.mit.edu	37	15	85186746	85186746	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85186746G>T	ENST00000434634.2	-	8	1152	c.1092C>A	c.(1090-1092)gcC>gcA	p.A364A	SCAND2P_ENST00000348993.5_RNA|WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	364										cervix(1)|large_intestine(1)|lung(1)	3						CATGCAGAGAGGCATCATTTG	0.542																																						ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(1090-1092)gcC>gcA		WD repeat domain 73							96.0	106.0	103.0					15																	85186746		2170	4286	6456	SO:0001819	synonymous_variant	84942							g.chr15:85186746G>T	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.1092C>A	15.37:g.85186746G>T						WDR73_ENST00000398528.3_5'UTR	p.A364A	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			8	1152	-			364					Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	37	c.1092C>A	CCDS45339.1																																																																																				0.542	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		6	43	1	0	8.12818e-05	1	8.2724e-05	6	43				
CPSF3L	54973	broad.mit.edu	37	1	1255909	1255909	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1255909G>A	ENST00000435064.1	-	3	209	c.127C>T	c.(127-129)Cga>Tga	p.R43*	CPSF3L_ENST00000450926.2_Splice_Site_p.R43*|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000545578.1_Splice_Site_p.R14*|CPSF3L_ENST00000540437.1_Splice_Site_p.R49*|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	43					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGGAAGCGTCGCTAGGAAGGA	0.607																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.e5-1		cleavage and polyadenylation specific factor 3-like							154.0	152.0	153.0					1																	1255909		2203	4300	6503	SO:0001630	splice_region_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1255909G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.127-1C>T	1.37:g.1255909G>A						CPSF3L_ENST00000435064.1_Splice_Site_p.R43_splice|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000545578.1_Splice_Site_p.R14_splice|CPSF3L_ENST00000450926.2_Splice_Site_p.R43_splice|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron	p.R49_splice	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	5	600	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	43					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Splice_Site	SNP	ENST00000435064.1	37	c.144_splice	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.526940	0.44969	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	.	.	.	4.73	0.793	0.18632	.	0.048715	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-53.2948	13.2437	0.60012	0.0:0.0:0.5864:0.4136	.	.	.	.	X	43;55;49;43;14;43;49;90;44;103	.	ENSP00000294579:R55X	R	-	1	2	CPSF3L	1245772	1.000000	0.71417	0.930000	0.37139	0.223000	0.24884	1.562000	0.36353	-0.130000	0.11599	-0.269000	0.10298	CGA		0.607	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871	Nonsense_Mutation	119	415	0	0	0	1	0	119	415				
PCNXL2	80003	broad.mit.edu	37	1	233136143	233136143	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136143G>A	ENST00000258229.9	-	30	5470	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	PCNXL2_ENST00000344698.2_Silent_p.L398L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1746						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTGAGCAGCTCTTCCTTG	0.607																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5236-5238)Ctg>Ttg		pecanex-like 2 (Drosophila)							102.0	104.0	104.0					1																	233136143		2088	4209	6297	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233136143G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5236C>T	1.37:g.233136143G>A						PCNXL2_ENST00000344698.2_Silent_p.L398L	p.L1746L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			30	5470	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1746					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.5236C>T	CCDS44335.1																																																																																				0.607	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		12	562	0	0	0	1	0	12	562				
SAP130	79595	broad.mit.edu	37	2	128699597	128699597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128699597G>A	ENST00000259235.3	-	20	3259	c.3130C>T	c.(3130-3132)Cga>Tga	p.R1044*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.R1079*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.R1052*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1044	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTCCTTTCGCTTCAATTTG	0.428																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(3235-3237)Cga>Tga		Sin3A-associated protein, 130kDa							165.0	153.0	157.0					2																	128699597		2203	4300	6503	SO:0001587	stop_gained	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128699597G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.3130C>T	2.37:g.128699597G>A	ENSP00000259235:p.Arg1044*					SAP130_ENST00000259234.6_Nonsense_Mutation_p.R1052*|SAP130_ENST00000259235.3_Nonsense_Mutation_p.R1044*	p.R1079*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	21	3366	-	Colorectal(110;0.1)		1044					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	ENST00000259235.3	37	c.3235C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	.	35	5.482949	0.96307	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	4.22	0.49857	.	0.175533	0.51477	D	0.000088	.	.	.	.	.	.	0.38751	D	0.954104	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4403	12.2802	0.54759	0.0657:0.0:0.7579:0.1764	.	.	.	.	X	1079;1044;1052	.	ENSP00000259234:R1052X	R	-	1	2	SAP130	128416067	1.000000	0.71417	0.998000	0.56505	0.001000	0.01503	5.117000	0.64667	1.632000	0.50472	-0.140000	0.14226	CGA		0.428	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		112	589	0	0	0	1	0	112	589				
CDC42BPA	8476	broad.mit.edu	37	1	227261640	227261640	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227261640T>C	ENST00000366769.3	-	19	3951	c.2660A>G	c.(2659-2661)gAt>gGt	p.D887G	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D806G|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G|CDC42BPA_ENST00000488131.1_5'UTR	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTTCTGCATCCAGAGCCGA	0.393																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(2659-2661)gAt>gGt		CDC42 binding protein kinase alpha (DMPK-like)							149.0	147.0	148.0					1																	227261640		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227261640T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2660A>G	1.37:g.227261640T>C	ENSP00000355731:p.Asp887Gly					CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D806G	p.D887G	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			19	3951	-		all_cancers(173;0.156)|Prostate(94;0.0792)	887						Missense_Mutation	SNP	ENST00000366769.3	37	c.2660A>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776394	0.70107	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.74258	2.255	0.80722	D	1	D;D;B;D;B;B;D	0.76494	0.999;0.983;0.104;0.999;0.02;0.02;0.999	D;P;B;D;B;B;D	0.91635	0.998;0.857;0.143;0.986;0.03;0.03;0.999	T	0.67229	-0.5723	10	0.51188	T	0.08	.	15.9745	0.80049	0.0:0.0:0.0:1.0	.	887;887;151;806;887;887;89	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.	G	887;806;887;887;887;151;887;887	ENSP00000355731:D887G;ENSP00000355729:D806G;ENSP00000335341:D887G;ENSP00000355728:D887G;ENSP00000355726:D887G;ENSP00000443275:D887G;ENSP00000355727:D887G	ENSP00000335341:D887G	D	-	2	0	CDC42BPA	225328263	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.586000	0.82596	2.168000	0.68352	0.533000	0.62120	GAT		0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		11	689	0	0	0	1	0	11	689				
ZNF569	148266	broad.mit.edu	37	19	37916864	37916864	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37916864G>T	ENST00000316950.6	-	5	701	c.144C>A	c.(142-144)ggC>ggA	p.G48G	ZNF569_ENST00000589833.1_Splice_Site_p.G72G|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Splice_Site_p.G48G|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000591073.1_5'Flank	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAACGGATAGCCTGTCAAAG	0.438																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e5-1		zinc finger protein 569							258.0	250.0	253.0					19																	37916864		2203	4300	6503	SO:0001630	splice_region_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37916864G>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.143-1C>A	19.37:g.37916864G>T						ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Splice_Site_p.G72_splice|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392149.2_Splice_Site_p.G48_splice	p.G48_splice	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	701	-			48			KRAB.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Splice_Site	SNP	ENST00000316950.6	37	c.142_splice	CCDS12503.1																																																																																				0.438	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	Silent	283	1097	1	0	5.54837e-101	1	7.1369e-101	283	1097				
MAPK12	6300	broad.mit.edu	37	22	50695062	50695062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50695062C>T	ENST00000215659.8	-	6	785	c.470G>A	c.(469-471)gGc>gAc	p.G157D	MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCAGGTTGCCGGGCTTCAG	0.652																																						ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(469-471)gGc>gAc		mitogen-activated protein kinase 12							76.0	81.0	80.0					22																	50695062		2203	4300	6503	SO:0001583	missense	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50695062C>T	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.470G>A	22.37:g.50695062C>T	ENSP00000215659:p.Gly157Asp					MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D	p.G157D	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	785	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	157			Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Missense_Mutation	SNP	ENST00000215659.8	37	c.470G>A	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370771	0.82573	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.12879	2.64;2.64	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232365	0.21899	U	0.067461	T	0.20618	0.0496	N	0.13272	0.32	0.80722	D	1	D;D;D	0.60575	0.971;0.988;0.964	P;P;P	0.62885	0.908;0.889;0.851	T	0.17410	-1.0370	10	0.87932	D	0	-29.3733	16.9691	0.86294	0.0:1.0:0.0:0.0	.	67;157;147	B5MDL5;P53778;F6TXG5	.;MK12_HUMAN;.	D	147;67;157	ENSP00000379126:G67D;ENSP00000215659:G157D	ENSP00000215659:G157D	G	-	2	0	MAPK12	49037189	0.593000	0.26840	0.986000	0.45419	0.787000	0.44495	4.173000	0.58249	2.241000	0.73720	0.549000	0.68633	GGC		0.652	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		103	468	0	0	0	1	0	103	468				
C16orf78	123970	broad.mit.edu	37	16	49433071	49433071	+	Missense_Mutation	SNP	G	G	A	rs182553423	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49433071G>A	ENST00000299191.3	+	5	797	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	227						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAGAACATTCGGACCTTGCTC	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		20957	0.002		0.0	False		,,,				2504	0.0					ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(679-681)cGg>cAg		chromosome 16 open reading frame 78							128.0	106.0	113.0					16																	49433071		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49433071G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.680G>A	16.37:g.49433071G>A	ENSP00000299191:p.Arg227Gln						p.R227Q	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			5	797	+			227						Missense_Mutation	SNP	ENST00000299191.3	37	c.680G>A	CCDS10738.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.16	1.557611	0.27827	.	.	ENSG00000166152	ENST00000299191	T	0.52983	0.64	5.47	0.731	0.18277	.	1.434460	0.04753	N	0.424991	T	0.41719	0.1171	L	0.54323	1.7	0.09310	N	1	P	0.46952	0.887	B	0.39258	0.295	T	0.36529	-0.9744	9	.	.	.	-25.0095	6.4856	0.22087	0.6281:0.0:0.3719:0.0	.	227	Q8WTQ4	CP078_HUMAN	Q	227	ENSP00000299191:R227Q	.	R	+	2	0	C16orf78	47990572	0.006000	0.16342	0.049000	0.19019	0.561000	0.35649	0.752000	0.26362	0.202000	0.20498	0.561000	0.74099	CGG		0.448	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		61	288	0	0	0	1	0	61	288				
FAXC	84553	broad.mit.edu	37	6	99781355	99781355	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99781355A>G	ENST00000389677.5	-	3	753	c.471T>C	c.(469-471)gtT>gtC	p.V157V	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	157						integral component of membrane (GO:0016021)											CTGTGCCAGAAACTTTTTCAT	0.373																																						ENST00000389677.5																			0											c.(469-471)gtT>gtC		failed axon connections homolog (Drosophila)							71.0	71.0	71.0					6																	99781355		2203	4300	6503	SO:0001819	synonymous_variant	84553							g.chr6:99781355A>G	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.471T>C	6.37:g.99781355A>G						FAXC_ENST00000538471.1_Intron	p.V157V	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN			3	753	-			157					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Silent	SNP	ENST00000389677.5	37	c.471T>C	CCDS34500.1																																																																																				0.373	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		71	216	0	0	0	1	0	71	216				
CFI	3426	broad.mit.edu	37	4	110662246	110662246	+	Missense_Mutation	SNP	C	C	T	rs121964918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110662246C>T	ENST00000394634.2	-	13	1762	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	CFI_ENST00000512148.1_Missense_Mutation_p.D512N|CFI_ENST00000394635.3_Missense_Mutation_p.D527N	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	519	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in AHUS3). {ECO:0000269|PubMed:16621965}.		complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTACAGGCATCGATGGAACCA	0.448																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27	GRCh37	CM062508	CFI	M	rs121964918	c.(1555-1557)Gat>Aat		complement factor I							135.0	143.0	140.0					4																	110662246		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110662246C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1555G>A	4.37:g.110662246C>T	ENSP00000378130:p.Asp519Asn					CFI_ENST00000512148.1_Missense_Mutation_p.D512N|CFI_ENST00000394635.3_Missense_Mutation_p.D527N	p.D519N	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	13	1762	-		Hepatocellular(203;0.217)	519		D -> N (in AHUS3).	Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1555G>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704595	0.88924	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.94687	-3.49;-3.49;-3.49	4.65	4.65	0.58169	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.116409	0.56097	D	0.000028	D	0.97458	0.9168	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.937;0.985;0.982	D	0.98173	1.0453	10	0.72032	D	0.01	-41.0888	15.9685	0.79995	0.0:1.0:0.0:0.0	.	527;512;519	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	N	527;519;512	ENSP00000378131:D527N;ENSP00000378130:D519N;ENSP00000427438:D512N	ENSP00000378130:D519N	D	-	1	0	CFI	110881695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.890000	0.75633	2.433000	0.82419	0.644000	0.83932	GAT		0.448	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		160	778	0	0	0	1	0	160	778				
DDHD2	23259	broad.mit.edu	37	8	38105252	38105252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38105252G>T	ENST00000397166.2	+	10	1672	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y|DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000529845.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	383					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TATTGTAATGGATCAAGGAGA	0.299																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1147-1149)Gat>Tat		DDHD domain containing 2							58.0	63.0	62.0					8																	38105252		2203	4295	6498	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38105252G>T	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1147G>T	8.37:g.38105252G>T	ENSP00000380352:p.Asp383Tyr					DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y|DDHD2_ENST00000528888.1_3'UTR	p.D383Y	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		10	1672	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	383					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1147G>T	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360789	0.61403	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T	0.33438	1.41;1.41	5.88	5.88	0.94601	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);	0.876669	0.10238	N	0.698732	T	0.29458	0.0734	L	0.50333	1.59	0.80722	D	1	B;B	0.26041	0.14;0.028	B;B	0.26770	0.073;0.015	T	0.14952	-1.0454	10	0.02654	T	1	-3.7601	15.7372	0.77853	0.0:0.0:1.0:0.0	.	195;383	B4DSR3;O94830	.;DDHD2_HUMAN	Y	383;383;195;2	ENSP00000380352:D383Y;ENSP00000429932:D383Y	ENSP00000380352:D383Y	D	+	1	0	DDHD2	38224409	1.000000	0.71417	0.888000	0.34837	0.932000	0.56968	6.196000	0.72094	2.788000	0.95919	0.555000	0.69702	GAT		0.299	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		46	264	1	0	2.40228e-13	1	2.59309e-13	46	264				
TCHH	7062	broad.mit.edu	37	1	152080181	152080181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080181G>A	ENST00000368804.1	-	2	5511	c.5512C>T	c.(5512-5514)Cgg>Tgg	p.R1838W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1838	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTCCTGCCGCAGCCTCTGC	0.587																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5512-5514)Cgg>Tgg		trichohyalin							60.0	64.0	62.0					1																	152080181		2077	4207	6284	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080181G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5512C>T	1.37:g.152080181G>A	ENSP00000357794:p.Arg1838Trp						p.R1838W	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5511	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1838			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5512C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526451	0.27299	.	.	ENSG00000159450	ENST00000368804	T	0.10960	2.82	4.6	1.42	0.22433	.	.	.	.	.	T	0.05364	0.0142	L	0.58101	1.795	0.09310	N	1	D	0.57899	0.981	B	0.41466	0.358	T	0.20306	-1.0279	9	0.51188	T	0.08	-14.4328	13.2874	0.60251	0.0:0.0:0.4975:0.5025	.	1838	Q07283	TRHY_HUMAN	W	1838	ENSP00000357794:R1838W	ENSP00000357794:R1838W	R	-	1	2	TCHH	150346805	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.485000	0.22324	0.030000	0.15379	-2.281000	0.00270	CGG		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		93	428	0	0	0	1	0	93	428				
GPR39	2863	broad.mit.edu	37	2	133402986	133402986	+	Missense_Mutation	SNP	G	G	A	rs548819578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402986G>A	ENST00000329321.3	+	2	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	390			R -> C (in dbSNP:rs16838944).		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGTGCAGCGCCCGTTGCTC	0.627																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1168-1170)cGc>cAc		G protein-coupled receptor 39							41.0	43.0	43.0					2																	133402986		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402986G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1169G>A	2.37:g.133402986G>A	ENSP00000327417:p.Arg390His					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.R390H	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1638	+			390		R -> C (in dbSNP:rs16838944).			B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1169G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626000	0.46840	.	.	ENSG00000183840	ENST00000329321	T	0.65549	-0.16	5.15	5.15	0.70609	.	3.095510	0.01007	N	0.003779	T	0.78534	0.4298	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.65990	-0.6034	10	0.66056	D	0.02	.	18.8727	0.92322	0.0:0.0:1.0:0.0	.	390	O43194	GPR39_HUMAN	H	390	ENSP00000327417:R390H	ENSP00000327417:R390H	R	+	2	0	GPR39	133119456	1.000000	0.71417	0.994000	0.49952	0.018000	0.09664	2.018000	0.40991	2.692000	0.91855	0.650000	0.86243	CGC		0.627	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			43	384	0	0	0	1	0	43	384				
KLRC3	3823	broad.mit.edu	37	12	10568293	10568293	+	Intron	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10568293T>G	ENST00000396439.2	-	6	723				NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Intron|KLRC3_ENST00000381903.2_Missense_Mutation_p.S230R	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3						cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATTCTAAAGCTTATGCTCACA	0.343																																						ENST00000381903.2																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(688-690)Agc>Cgc		killer cell lectin-like receptor subfamily C, member 3							105.0	91.0	96.0					12																	10568293		2203	4300	6503	SO:0001627	intron_variant	3823							g.chr12:10568293T>G	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.678+9A>C	12.37:g.10568293T>G						KLRC3_ENST00000396439.2_Intron|NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Intron	p.S230R	NM_007333.2	NP_031359.2					6	687	-								Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.688A>C	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762789	0.31228	.	.	ENSG00000205810	ENST00000381903	T	0.01685	4.69	2.48	-0.255	0.12988	.	.	.	.	.	T	0.01421	0.0046	.	.	.	0.09310	N	1	B	0.26041	0.14	B	0.28849	0.095	T	0.48958	-0.8988	8	0.29301	T	0.29	.	5.0732	0.14617	0.4911:0.0:0.0:0.5089	.	230	Q07444-2	.	R	230	ENSP00000371328:S230R	ENSP00000371328:S230R	S	-	1	0	KLRC3	10459560	0.003000	0.15002	0.000000	0.03702	0.024000	0.10985	2.003000	0.40844	-0.061000	0.13110	-0.503000	0.04515	AGC		0.343	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		39	182	0	0	0	1	0	39	182				
CYB5RL	606495	broad.mit.edu	37	1	54640324	54640324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54640324C>T	ENST00000534324.1	-	6	915	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	CYB5RL_ENST00000419823.2_Missense_Mutation_p.G306S|RP11-446E24.4_ENST00000311841.7_Intron|RP11-446E24.4_ENST00000525949.1_5'Flank|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|AL357673.1_ENST00000536061.1_5'Flank			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	306							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCAGTGAGGCCTGCGCACAGT	0.557																																						ENST00000419823.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						c.(916-918)Ggc>Agc		cytochrome b5 reductase-like							38.0	41.0	40.0					1																	54640324		1987	4173	6160	SO:0001583	missense	606495						cytochrome-b5 reductase activity	g.chr1:54640324C>T		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.916G>A	1.37:g.54640324C>T	ENSP00000434343:p.Gly306Ser					RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|CYB5RL_ENST00000534324.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S	p.G306S	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN			7	1140	-			306					B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	c.916G>A	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936381	0.92458	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.96619	-2.78;-4.07;-2.78;-2.96;-2.78;-2.96	5.14	5.14	0.70334	.	0.000000	0.39544	U	0.001321	D	0.96210	0.8764	N	0.24115	0.695	0.49915	D	0.999838	D;D	0.89917	0.999;1.0	D;D	0.74674	0.921;0.984	D	0.96630	0.9466	10	0.54805	T	0.06	-19.7195	16.9666	0.86287	0.0:1.0:0.0:0.0	.	306;158	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	S	306;158;306;238;306;238	ENSP00000409075:G306S;ENSP00000383825:G158S;ENSP00000434343:G306S;ENSP00000287899:G238S;ENSP00000438151:G306S;ENSP00000443797:G238S	ENSP00000287899:G238S	G	-	1	0	CYB5RL	54412912	0.999000	0.42202	0.960000	0.40013	0.863000	0.49368	5.162000	0.64942	2.672000	0.90937	0.555000	0.69702	GGC		0.557	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		5	77	0	0	0	1	0	5	77				
MUC5B	727897	broad.mit.edu	37	11	1262147	1262147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1262147G>T	ENST00000529681.1	+	31	4095	c.4037G>T	c.(4036-4038)gGg>gTg	p.G1346V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G1349V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1346	7 X Cys-rich subdomain repeats.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGTACAATGGGCACCGCCCA	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(4045-4047)gGg>gTg		mucin 5B, oligomeric mucus/gel-forming							25.0	29.0	28.0					11																	1262147		1979	4156	6135	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262147G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4037G>T	11.37:g.1262147G>T	ENSP00000436812:p.Gly1346Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.G1346V	p.G1349V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	4104	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1346			7 X Cys-rich subdomain repeats.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4046G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616679	0.14129	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15952	2.38;2.38	3.62	0.494	0.16884	.	.	.	.	.	T	0.07007	0.0178	N	0.04090	-0.28	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.30251	0.103;0.113	T	0.32268	-0.9913	9	0.87932	D	0	.	3.0683	0.06221	0.09:0.1427:0.3309:0.4364	.	2039;1349	A7Y9J9;E9PBJ0	.;.	V	1346;1349;1347;1416	ENSP00000436812:G1346V;ENSP00000415793:G1349V	ENSP00000343037:G1347V	G	+	2	0	MUC5B	1218723	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.920000	0.01571	-0.086000	0.12550	0.313000	0.20887	GGG		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		18	184	1	0	5.35267e-07	1	5.54261e-07	18	184				
ITPR1	3708	broad.mit.edu	37	3	4847865	4847865	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4847865C>A	ENST00000443694.2	+	52	7141	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000354582.6_Missense_Mutation_p.L2381M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M|ITPR1_ENST00000302640.8_Missense_Mutation_p.L2381M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2396					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGCCATGGTTCTGGATGTTGA	0.453																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7141-7143)Ctg>Atg		inositol 1,4,5-trisphosphate receptor, type 1							149.0	142.0	144.0					3																	4847865		1951	4154	6105	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4847865C>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7141C>A	3.37:g.4847865C>A	ENSP00000401671:p.Leu2381Met					ITPR1_ENST00000302640.8_Missense_Mutation_p.L2381M|ITPR1_ENST00000443694.2_Missense_Mutation_p.L2381M|ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M	p.L2381M			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	54	7491	+			2396					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7141C>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394562	0.04899	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97430	-2.77;-2.77;-2.77;-2.77;-2.77;-4.38;-2.77	5.07	4.2	0.49525	Ion transport (1);	0.176545	0.46442	D	0.000284	D	0.89522	0.6739	N	0.01267	-0.92	0.33300	D	0.564656	B;B;B	0.24963	0.115;0.001;0.002	B;B;B	0.37989	0.262;0.006;0.004	D	0.87271	0.2286	10	0.29301	T	0.29	.	6.6622	0.23020	0.155:0.6874:0.0:0.1575	.	359;2396;2348	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	M	2396;2381;2381;2348;842;2348;2333;359;2381	ENSP00000306253:L2381M;ENSP00000346595:L2381M;ENSP00000405934:L2348M;ENSP00000349597:L2348M;ENSP00000397885:L2333M;ENSP00000440564:L359M;ENSP00000401671:L2381M	ENSP00000306253:L2381M	L	+	1	2	ITPR1	4822865	0.445000	0.25657	0.981000	0.43875	0.971000	0.66376	0.973000	0.29422	1.273000	0.44346	-0.218000	0.12543	CTG		0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		61	212	1	0	1.19403e-26	1	1.3775e-26	61	212				
FLG	2312	broad.mit.edu	37	1	152277244	152277244	+	Missense_Mutation	SNP	C	C	T	rs550252644		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152277244C>T	ENST00000368799.1	-	3	10153	c.10118G>A	c.(10117-10119)cGt>cAt	p.R3373H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3373	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCGGTCACGTGCGGACTC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10117-10119)cGt>cAt		filaggrin							292.0	311.0	305.0					1																	152277244		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277244C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10118G>A	1.37:g.152277244C>T	ENSP00000357789:p.Arg3373His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3373H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10153	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3373			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10118G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228161	0.22542	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00940	5.52	2.71	-5.36	0.02689	.	.	.	.	.	T	0.00524	0.0017	L	0.60957	1.885	0.09310	N	1	P	0.46706	0.883	P	0.46419	0.516	T	0.18053	-1.0349	9	0.21540	T	0.41	-0.9891	9.4993	0.39008	0.0:0.2497:0.0:0.7503	.	3373	P20930	FILA_HUMAN	H	3373;311	ENSP00000357789:R3373H	ENSP00000357786:R311H	R	-	2	0	FLG	150543868	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.270000	0.02433	-0.396000	0.06452	CGT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		648	1988	0	0	0	1	0	648	1988				
GPR125	166647	broad.mit.edu	37	4	22390256	22390256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390256C>A	ENST00000334304.5	-	19	3307	c.3038G>T	c.(3037-3039)gGg>gTg	p.G1013V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1013					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCCAAAGCCCCAAACATCCA	0.443																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3037-3039)gGg>gTg		G protein-coupled receptor 125							102.0	103.0	103.0					4																	22390256		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390256C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3038G>T	4.37:g.22390256C>A	ENSP00000334952:p.Gly1013Val					GPR125_ENST00000282943.5_5'UTR	p.G1013V	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3307	-		Breast(46;0.198)	1013					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3038G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404043	0.62288	.	.	ENSG00000152990	ENST00000334304	T	0.65732	-0.17	5.94	5.94	0.96194	GPCR, family 2-like (1);	0.098598	0.64402	D	0.000001	T	0.77916	0.4202	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.75484	0.986;0.852	T	0.76049	-0.3101	10	0.51188	T	0.08	-29.7383	20.3501	0.98811	0.0:1.0:0.0:0.0	.	870;1013	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	1013	ENSP00000334952:G1013V	ENSP00000334952:G1013V	G	-	2	0	GPR125	21999354	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	4.597000	0.61062	2.807000	0.96579	0.650000	0.86243	GGG		0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			55	262	1	0	1.4374e-25	1	1.6504e-25	55	262				
FER	2241	broad.mit.edu	37	5	108516459	108516459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516459C>T	ENST00000281092.4	+	18	2444	c.2060C>T	c.(2059-2061)gCa>gTa	p.A687V	FER_ENST00000438717.2_Missense_Mutation_p.A512V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	687	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACCTTGCTGCAAGAAACTGC	0.383																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2059-2061)gCa>gTa		fer (fps/fes related) tyrosine kinase							127.0	122.0	124.0					5																	108516459		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108516459C>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2060C>T	5.37:g.108516459C>T	ENSP00000281092:p.Ala687Val					FER_ENST00000438717.2_Missense_Mutation_p.A512V	p.A687V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	18	2444	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	687			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2060C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117416	0.94385	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.37058	1.22;1.22	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77755	-0.2469	10	0.87932	D	0	-12.7602	18.8338	0.92153	0.0:1.0:0.0:0.0	.	687	P16591	FER_HUMAN	V	687;512	ENSP00000281092:A687V;ENSP00000394297:A512V	ENSP00000281092:A687V	A	+	2	0	FER	108544358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.434000	0.82447	0.650000	0.86243	GCA		0.383	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		78	419	0	0	0	1	0	78	419				
COX17	10063	broad.mit.edu	37	3	119394074	119394074	+	Silent	SNP	G	G	A	rs143622776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119394074G>A	ENST00000261070.2	-	2	206	c.114C>T	c.(112-114)atC>atT	p.I38I	COX17_ENST00000497116.1_Silent_p.I38I|COX17_ENST00000484810.1_Silent_p.I73I	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	38					brain development (GO:0007420)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|heart development (GO:0007507)	cytoplasm (GO:0005737)|mitochondrial intermembrane space (GO:0005758)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CTCCTTTCTCGATGATACTAT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20559	0.0		0.0	False		,,,				2504	0.0					ENST00000261070.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)	3						c.(112-114)atC>atT		COX17 cytochrome c oxidase copper chaperone		G		4,4402	8.1+/-20.4	0,4,2199	107.0	100.0	102.0		114	-9.6	0.6	3	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous	COX17	NM_005694.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		38/64	119394074	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10063				copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity	g.chr3:119394074G>A	L77701	CCDS2993.1	3q13.33	2013-05-23	2013-05-23		ENSG00000138495	ENSG00000138495		"""Mitochondrial respiratory chain complex assembly factors"""	2264	protein-coding gene	gene with protein product		604813	"""COX17 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX17 homolog, cytochrome c oxidase assembly protein (yeast)"", ""COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae)"", ""COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 17 (yeast)"""			9050918, 21816817	Standard	NM_005694		Approved		uc003ecz.1	Q14061	OTTHUMG00000159433	ENST00000261070.2:c.114C>T	3.37:g.119394074G>A						COX17_ENST00000497116.1_Silent_p.I38I|COX17_ENST00000484810.1_Silent_p.I73I	p.I38I	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN		GBM - Glioblastoma multiforme(114;0.227)	2	206	-			38					B2R5D2|D3DN84|Q3MHD6	Silent	SNP	ENST00000261070.2	37	c.114C>T	CCDS2993.1																																																																																				0.363	COX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355297.2	NM_005694		44	237	0	0	0	1	0	44	237				
ADRA2B	151	broad.mit.edu	37	2	96781645	96781645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781645G>A	ENST00000409345.3	-	1	339	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	82					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACCACGTGCGCCGGAAGTAC	0.657																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(244-246)Cgc>Tgc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						46.0	50.0	49.0					2																	96781645		2202	4300	6502	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781645G>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.244C>T	2.37:g.96781645G>A	ENSP00000387281:p.Arg82Cys						p.R82C	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	339	-			82					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.244C>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889619	0.52014	.	.	ENSG00000222040	ENST00000409345	T	0.73469	-0.75	4.48	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.84835	0.5560	M	0.92691	3.335	0.32577	N	0.52904	D	0.67145	0.996	P	0.58970	0.849	D	0.86428	0.1759	9	0.72032	D	0.01	.	5.7559	0.18172	0.0986:0.0:0.7108:0.1905	.	82	P18089	ADA2B_HUMAN	C	82	ENSP00000387281:R82C	ENSP00000387281:R82C	R	-	1	0	ADRA2B	96145372	0.001000	0.12720	0.991000	0.47740	0.742000	0.42306	1.279000	0.33191	1.133000	0.42147	-0.365000	0.07479	CGC		0.657	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			42	123	0	0	0	1	0	42	123				
CMA1	1215	broad.mit.edu	37	14	24976656	24976656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24976656G>T	ENST00000250378.3	-	2	144	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ACAATTTCCAGGTAGGCCATG	0.517																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(115-117)Ctg>Atg		chymase 1, mast cell							150.0	143.0	145.0					14																	24976656		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976656G>T		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.115C>A	14.37:g.24976656G>T	ENSP00000250378:p.Leu39Met					CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	p.L39M	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	144	-			39			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.115C>A	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019589	0.75275	.	.	ENSG00000092009	ENST00000250378	D	0.91124	-2.79	5.01	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39985	N	0.001203	D	0.93314	0.7869	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93113	0.6518	10	0.72032	D	0.01	.	9.3485	0.38122	0.0969:0.0:0.9031:0.0	.	39	P23946	CMA1_HUMAN	M	39	ENSP00000250378:L39M	ENSP00000250378:L39M	L	-	1	2	CMA1	24046496	0.246000	0.23909	0.685000	0.30070	0.489000	0.33432	0.903000	0.28475	1.483000	0.48342	0.655000	0.94253	CTG		0.517	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			161	634	1	0	1.556e-84	1	1.99354e-84	161	634				
PPP3CA	5530	broad.mit.edu	37	4	102117166	102117166	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102117166G>A	ENST00000394854.3	-	2	849	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PPP3CA_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000394853.4_Silent_p.L56L|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000512215.1_Silent_p.L56L	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	56	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTCTCTTCCAGCCTTCCCTCC	0.423																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(166-168)Ctg>Ttg		protein phosphatase 3, catalytic subunit, alpha isozyme							139.0	140.0	139.0					4																	102117166		2203	4300	6503	SO:0001819	synonymous_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102117166G>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.166C>T	4.37:g.102117166G>A						PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Silent_p.L56L|PPP3CA_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000512215.1_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron	p.L56L	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	2	849	-			56			Catalytic.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	ENST00000394854.3	37	c.166C>T	CCDS34037.1																																																																																				0.423	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		70	319	0	0	0	1	0	70	319				
MUC16	94025	broad.mit.edu	37	19	9047793	9047793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047793T>C	ENST00000397910.4	-	5	34041	c.33838A>G	c.(33838-33840)Aca>Gca	p.T11280A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11282	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGAGGTTGTCCTGGGAAGA	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33838-33840)Aca>Gca		mucin 16, cell surface associated							63.0	57.0	59.0					19																	9047793		1948	4159	6107	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047793T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33838A>G	19.37:g.9047793T>C	ENSP00000381008:p.Thr11280Ala						p.T11280A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34041	-			11282			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33838A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.086	0.201588	0.09652	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.27	1.24	0.21308	.	.	.	.	.	T	0.03136	0.0092	L	0.52573	1.65	.	.	.	P	0.45594	0.862	P	0.44477	0.451	T	0.33879	-0.9851	8	0.87932	D	0	.	4.1022	0.10018	0.0:0.1779:0.0:0.8221	.	11280	B5ME49	.	A	11280	ENSP00000381008:T11280A	ENSP00000381008:T11280A	T	-	1	0	MUC16	8908793	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.040000	0.13905	0.311000	0.23014	0.414000	0.27820	ACA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	101	0	0	0	1	0	19	101				
TEP1	7011	broad.mit.edu	37	14	20872901	20872901	+	Missense_Mutation	SNP	C	C	T	rs144854568	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20872901C>T	ENST00000262715.5	-	5	941	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	301	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACATTCCGGACGTTCAGCTGC	0.537													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21486	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(901-903)Gtc>Atc		telomerase-associated protein 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	67.0	62.0	64.0		901	-8.0	0.0	14	dbSNP_134	64	0,8600		0,0,4300	no	missense	TEP1	NM_007110.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	301/2628	20872901	1,13005	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20872901C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.901G>A	14.37:g.20872901C>T	ENSP00000262715:p.Val301Ile					TEP1_ENST00000556935.1_Intron	p.V301I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	5	941	-	all_cancers(95;0.00123)	all_lung(585;0.235)	301			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.901G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169402	0.09339	2.27E-4	0.0	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.13307	2.6	5.55	-7.97	0.01139	TROVE (2);	0.481200	0.21268	N	0.077374	T	0.02230	0.0069	N	0.01789	-0.72	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41910	-0.9482	10	0.02654	T	1	-1.0592	3.0455	0.06152	0.0847:0.1609:0.1646:0.5899	.	301	Q99973	TEP1_HUMAN	I	301	ENSP00000262715:V301I	ENSP00000262715:V301I	V	-	1	0	TEP1	19942741	0.221000	0.23642	0.005000	0.12908	0.695000	0.40330	-0.075000	0.11431	-1.621000	0.01562	-0.150000	0.13652	GTC		0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		44	213	0	0	0	1	0	44	213				
HSF2BP	11077	broad.mit.edu	37	21	45064210	45064210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064210C>T	ENST00000291560.2	-	4	582	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	84					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGTTTCCAGGCGGGCTTTAAA	0.458																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(250-252)cGc>cAc		heat shock transcription factor 2 binding protein							164.0	147.0	153.0					21																	45064210		2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:45064210C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.251G>A	21.37:g.45064210C>T	ENSP00000291560:p.Arg84His					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	p.R84H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	4	582	-			84					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.251G>A	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848928	0.91277	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	5.48	0.80851	.	0.057115	0.64402	D	0.000001	T	0.71771	0.3379	M	0.63428	1.95	0.54753	D	0.999988	D	0.63046	0.992	P	0.53861	0.736	T	0.75033	-0.3460	9	0.72032	D	0.01	-10.2094	17.1439	0.86761	0.0:1.0:0.0:0.0	.	84	O75031	HSF2B_HUMAN	H	84;9;84	.	ENSP00000291560:R84H	R	-	2	0	HSF2BP	43888638	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	2.549000	0.45803	2.576000	0.86940	0.655000	0.94253	CGC		0.458	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		30	389	0	0	0	1	0	30	389				
FBXW4	6468	broad.mit.edu	37	10	103427655	103427655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103427655C>A	ENST00000331272.7	-	5	1376	c.758G>T	c.(757-759)aGc>aTc	p.S253I		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	253					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)		p.S253>?(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GAGTAATGGGCTGATAGCAAT	0.468																																						ENST00000331272.7																			1	Complex(1)	p.S253>?(1)	large_intestine(1)	breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15						c.(757-759)aGc>aTc		F-box and WD repeat domain containing 4							141.0	141.0	141.0					10																	103427655		2203	4300	6503	SO:0001583	missense	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103427655C>A	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.758G>T	10.37:g.103427655C>A	ENSP00000359149:p.Ser253Ile						p.S253I	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	5	1376	-		Colorectal(252;0.123)	253					Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	c.758G>T	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434945	0.83885	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	T	0.22945	1.93	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.076593	0.85682	D	0.000000	T	0.46483	0.1395	M	0.74647	2.275	0.58432	D	0.999993	D	0.67145	0.996	P	0.59171	0.853	T	0.42413	-0.9453	10	0.72032	D	0.01	-20.1976	13.5087	0.61499	0.0:0.9286:0.0:0.0714	.	253	P57775	FBXW4_HUMAN	I	253;253;166;209	ENSP00000359149:S253I	ENSP00000359149:S253I	S	-	2	0	FBXW4	103417645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.468000	0.53086	2.878000	0.98634	0.650000	0.86243	AGC		0.468	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		121	547	1	0	2.02578e-71	1	2.57604e-71	121	547				
ZNF557	79230	broad.mit.edu	37	19	7083484	7083484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083484C>T	ENST00000439035.2	+	8	1241	c.1001C>T	c.(1000-1002)aCt>aTt	p.T334I	ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I|ZNF557_ENST00000414706.1_Missense_Mutation_p.T341I			Q8N988	ZN557_HUMAN	zinc finger protein 557	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CACATAAGAACTCATACTGGA	0.423																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1021-1023)aCt>aTt		zinc finger protein 557							93.0	102.0	99.0					19																	7083484		2184	4286	6470	SO:0001583	missense	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083484C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1001C>T	19.37:g.7083484C>T	ENSP00000398965:p.Thr334Ile					ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I|ZNF557_ENST00000439035.2_Missense_Mutation_p.T334I	p.T341I	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1495	+			334					Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.1022C>T	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	C	1.185	-0.637016	0.03557	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.12672	2.66;2.66;2.66	1.32	0.255	0.15561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.17379	0.485	0.20926	N	0.99983	B;B	0.28512	0.214;0.178	B;B	0.27380	0.079;0.047	T	0.39522	-0.9610	9	0.02654	T	1	.	5.2928	0.15737	0.0:0.784:0.0:0.216	.	334;341	Q8N988;Q8N988-2	ZN557_HUMAN;.	I	341;341;334	ENSP00000252840:T341I;ENSP00000404065:T341I;ENSP00000398965:T334I	ENSP00000252840:T341I	T	+	2	0	ZNF557	7034484	0.000000	0.05858	0.881000	0.34555	0.052000	0.14988	-0.121000	0.10643	0.132000	0.18615	0.313000	0.20887	ACT		0.423	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		68	342	0	0	0	1	0	68	342				
CXorf67	340602	broad.mit.edu	37	X	51150656	51150656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51150656C>T	ENST00000342995.2	+	1	890	c.788C>T	c.(787-789)gCg>gTg	p.A263V				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	263										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CCTGAATCTGCGCCAGGCCCT	0.706																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(787-789)gCg>gTg		chromosome X open reading frame 67							11.0	11.0	11.0					X																	51150656		2189	4257	6446	SO:0001583	missense	340602							g.chrX:51150656C>T	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.788C>T	X.37:g.51150656C>T	ENSP00000342680:p.Ala263Val						p.A263V							1	890	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.788C>T		.	.	.	.	.	.	.	.	.	.	c	11.47	1.648956	0.29336	.	.	ENSG00000187690	ENST00000342995	T	0.46063	0.88	3.4	-6.64	0.01801	.	1.040720	0.07697	N	0.939712	T	0.18635	0.0447	.	.	.	0.09310	N	1	P	0.51791	0.948	B	0.39258	0.295	T	0.14587	-1.0467	9	0.19590	T	0.45	3.1865	3.712	0.08423	0.4469:0.1354:0.3311:0.0866	.	263	Q86X51	CX067_HUMAN	V	263	ENSP00000342680:A263V	ENSP00000342680:A263V	A	+	2	0	CXorf67	51167396	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.542000	0.00436	-1.895000	0.01104	0.431000	0.28591	GCG		0.706	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		26	73	0	0	0	1	0	26	73				
B3GAT3	26229	broad.mit.edu	37	11	62388054	62388054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62388054G>A	ENST00000265471.5	-	2	399	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F|B3GAT3_ENST00000531383.1_Missense_Mutation_p.L58F	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	58					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGCCGTCGGAGTTCCGCTTGC	0.647																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(172-174)Ctc>Ttc		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							23.0	29.0	27.0					11																	62388054		2202	4295	6497	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62388054G>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.172C>T	11.37:g.62388054G>A	ENSP00000265471:p.Leu58Phe					B3GAT3_ENST00000265471.5_Missense_Mutation_p.L58F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F	p.L58F			O94766	B3GA3_HUMAN			2	378	-			58					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.172C>T	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499735	0.85176	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.66815	-0.2;-0.21;-0.23;0.77	5.53	5.53	0.82687	.	0.070269	0.64402	D	0.000016	T	0.75722	0.3888	L	0.58101	1.795	0.48288	D	0.999622	D;D;P	0.71674	0.998;0.998;0.949	D;D;P	0.78314	0.991;0.991;0.601	T	0.69658	-0.5086	10	0.09084	T	0.74	.	14.9659	0.71193	0.0:0.0:1.0:0.0	.	58;64;58	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	F	58;58;58;81	ENSP00000265471:L58F;ENSP00000431359:L58F;ENSP00000432474:L58F;ENSP00000432854:L81F	ENSP00000265471:L58F	L	-	1	0	B3GAT3	62144630	1.000000	0.71417	0.989000	0.46669	0.759000	0.43091	3.026000	0.49689	2.599000	0.87857	0.655000	0.94253	CTC		0.647	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		29	80	0	0	0	1	0	29	80				
SNHG14	104472715	broad.mit.edu	37	15	25344662	25344662	+	RNA	SNP	T	T	C	rs147531614	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25344662T>C	ENST00000546682.1	+	0	1475				SNORD116-27_ENST00000516087.1_RNA|SNORD116-26_ENST00000516006.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-25_ENST00000516517.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGATGACTATAAAAAAAATG	0.468																																						ENST00000546682.1																			0																				103.0	98.0	100.0					15																	25344662		876	1991	2867			0							g.chr15:25344662T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25344662T>C						SNORD116-26_ENST00000516006.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	1475	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.468	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			67	339	0	0	0	1	0	67	339				
CEP78	84131	broad.mit.edu	37	9	80866940	80866940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866940G>A	ENST00000424347.2	+	9	1475	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000277082.5_Missense_Mutation_p.E396K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	396					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCGTACTGCAGAACGTGCAAA	0.413																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1186-1188)Gaa>Aaa		centrosomal protein 78kDa							36.0	36.0	36.0					9																	80866940		1863	4094	5957	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80866940G>A	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1186G>A	9.37:g.80866940G>A	ENSP00000411284:p.Glu396Lys					CEP78_ENST00000277082.5_Missense_Mutation_p.E396K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K|CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K	p.E396K			Q5JTW2	CEP78_HUMAN			9	1475	+			396					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	G	18.76	3.692335	0.68271	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.28666	1.61;1.8;1.6;1.61;1.6	5.51	3.57	0.40892	.	0.299706	0.31246	N	0.007995	T	0.45478	0.1344	M	0.69823	2.125	0.30262	N	0.793045	D;P;D	0.62365	0.991;0.801;0.967	P;B;P	0.53760	0.734;0.314;0.614	T	0.52328	-0.8590	10	0.41790	T	0.15	-8.1064	14.7238	0.69329	0.0:0.276:0.724:0.0	.	397;397;396	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	K	396;396;397;397;396;396	ENSP00000411284:E396K;ENSP00000399286:E397K;ENSP00000365782:E397K;ENSP00000277082:E396K;ENSP00000365783:E396K	ENSP00000277082:E396K	E	+	1	0	CEP78	80056760	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.034000	0.49751	0.622000	0.30249	0.655000	0.94253	GAA		0.413	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		15	64	0	0	0	1	0	15	64				
ZNF195	7748	broad.mit.edu	37	11	3380642	3380642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380642G>A	ENST00000399602.4	-	6	1722	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	ZNF195_ENST00000429541.2_Silent_p.T464T|ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Silent_p.T460T|ZNF195_ENST00000343338.7_Silent_p.T464T	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAGGACTGGGTAAAGTTTT	0.408																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1378-1380)acC>acT		zinc finger protein 195							146.0	148.0	148.0					11																	3380642		2039	4221	6260	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380642G>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1596C>T	11.37:g.3380642G>A						ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.T464T|ZNF195_ENST00000399602.4_Silent_p.T532T|ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000429541.2_Silent_p.T464T	p.T460T	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1484	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	532					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1380C>T	CCDS44522.1																																																																																				0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			57	641	0	0	0	1	0	57	641				
RIOK1	83732	broad.mit.edu	37	6	7404697	7404697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7404697C>T	ENST00000379834.2	+	10	1408	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	301	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATCCAAGGCTCGGGAGTTGTA	0.408																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(901-903)Cgg>Tgg		RIO kinase 1							166.0	158.0	161.0					6																	7404697		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7404697C>T	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.901C>T	6.37:g.7404697C>T	ENSP00000369162:p.Arg301Trp						p.R301W	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			10	1408	+	Ovarian(93;0.0418)		301			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.901C>T	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683615	0.88639	.	.	ENSG00000124784	ENST00000379834	T	0.07444	3.19	5.3	5.3	0.74995	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.08638	-1.0712	10	0.66056	D	0.02	-13.397	13.3026	0.60334	0.158:0.842:0.0:0.0	.	301	Q9BRS2	RIOK1_HUMAN	W	301	ENSP00000369162:R301W	ENSP00000369162:R301W	R	+	1	2	RIOK1	7349696	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.878000	0.48515	2.627000	0.88993	0.655000	0.94253	CGG		0.408	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		128	631	0	0	0	1	0	128	631				
EPPK1	83481	broad.mit.edu	37	8	144940647	144940647	+	Missense_Mutation	SNP	C	C	A	rs202019740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940647C>A	ENST00000525985.1	-	2	6846	c.6775G>T	c.(6775-6777)Gcc>Tcc	p.A2259S				P58107	EPIPL_HUMAN	epiplakin 1	2259						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCAGGGCCGTGCCGGGC	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6775-6777)Gcc>Tcc		epiplakin 1		C	SER/ALA	0,4302		0,0,2151	44.0	41.0	42.0		6775	4.7	1.0	8		42	4,8492		0,4,4244	yes	missense	EPPK1	NM_031308.1	99	0,4,6395	AA,AC,CC		0.0471,0.0,0.0313	probably-damaging	2259/2420	144940647	4,12794	2151	4248	6399	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940647C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6775G>T	8.37:g.144940647C>A	ENSP00000436337:p.Ala2259Ser						p.A2259S			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6846	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2259					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6775G>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.051270	0.75960	0.0	4.71E-4	ENSG00000227184	ENST00000525985	T	0.76709	-1.04	4.67	4.67	0.58626	.	.	.	.	.	D	0.86973	0.6062	M	0.70787	2.145	0.26347	N	0.977271	D	0.56968	0.978	D	0.73380	0.98	T	0.79347	-0.1841	9	0.56958	D	0.05	.	15.1226	0.72457	0.0:1.0:0.0:0.0	.	2259	E9PPU0	.	S	2259	ENSP00000436337:A2259S	ENSP00000436337:A2259S	A	-	1	0	EPPK1	145012635	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	3.203000	0.51075	2.420000	0.82092	0.591000	0.81541	GCC		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	490	1	0	1.05317e-09	1	1.11087e-09	11	490				
ABCB1	5243	broad.mit.edu	37	7	87174266	87174266	+	Missense_Mutation	SNP	C	C	A	rs528939709	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87174266C>A	ENST00000265724.3	-	17	2354	c.1937G>T	c.(1936-1938)aGt>aTt	p.S646I	ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	646					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATCAATTTCACTTTTGGATTC	0.363													C|||	4	0.000798722	0.0	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.0041					ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1936-1938)aGt>aTt		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						105.0	96.0	99.0					7																	87174266		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87174266C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1937G>T	7.37:g.87174266C>A	ENSP00000265724:p.Ser646Ile					ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	p.S646I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			17	2354	-	Esophageal squamous(14;0.00164)		646					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1937G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804349	0.31869	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88124	-2.32;-2.34	5.75	1.3	0.21679	.	2.226270	0.01211	N	0.007857	T	0.81791	0.4897	L	0.43923	1.385	0.09310	N	1	B;B	0.27068	0.053;0.167	B;B	0.21546	0.035;0.025	T	0.63712	-0.6575	10	0.38643	T	0.18	-0.0858	3.9517	0.09372	0.17:0.4676:0.0:0.3624	.	582;646	B5AK60;P08183	.;MDR1_HUMAN	I	427;646;582	ENSP00000265724:S646I;ENSP00000444095:S582I	ENSP00000265724:S646I	S	-	2	0	ABCB1	87012202	0.000000	0.05858	0.418000	0.26571	0.993000	0.82548	-1.124000	0.03260	0.341000	0.23771	0.650000	0.86243	AGT		0.363	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		51	246	1	0	3.16986e-14	1	3.43948e-14	51	246				
IFIH1	64135	broad.mit.edu	37	2	163134176	163134176	+	Missense_Mutation	SNP	C	C	T	rs200945986	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163134176C>T	ENST00000263642.2	-	10	2188	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	598				R -> S (in Ref. 2; AAG54076). {ECO:0000305}.	cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCACAAACACGTTCTTTGCG	0.333													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21117	0.0		0.0	False		,,,				2504	0.0					ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(1792-1794)cGt>cAt		interferon induced with helicase C domain 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	106.0	100.0	102.0		1793	5.7	1.0	2		102	0,8596		0,0,4298	no	missense	IFIH1	NM_022168.2	29	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	598/1026	163134176	2,13000	2203	4298	6501	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134176C>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1793G>A	2.37:g.163134176C>T	ENSP00000263642:p.Arg598His						p.R598H	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			10	2188	-			598	R -> S (in Ref. 2; AAG54076).				Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.1793G>A	CCDS2217.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.05	3.537964	0.65085	4.54E-4	0.0	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.06294	3.32	5.66	5.66	0.87406	.	0.048663	0.85682	D	0.000000	T	0.08492	0.0211	M	0.78916	2.43	0.54753	D	0.999983	P	0.39964	0.697	B	0.28991	0.097	T	0.03761	-1.1006	10	0.42905	T	0.14	-13.7346	10.2205	0.43194	0.0:0.8533:0.0:0.1467	.	598	Q9BYX4	IFIH1_HUMAN	H	598	ENSP00000263642:R598H	ENSP00000263642:R598H	R	-	2	0	IFIH1	162842422	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.782000	0.62396	2.665000	0.90641	0.563000	0.77884	CGT		0.333	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		54	259	0	0	0	1	0	54	259				
CYP4Z2P	163720	broad.mit.edu	37	1	47325458	47325458	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47325458C>A	ENST00000505841.1	-	0	1071					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CTCAGGTGTTCCCTGGGTACA	0.488																																						ENST00000505841.1																			0																																																			0							g.chr1:47325458C>A	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325458C>A								NR_002788.2						0	1071	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.488	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		82	314	1	0	4.05715e-38	1	4.88277e-38	82	314				
TBC1D19	55296	broad.mit.edu	37	4	26638889	26638889	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26638889T>C	ENST00000264866.4	+	5	629	c.351T>C	c.(349-351)agT>agC	p.S117S	AC093807.1_ENST00000580172.1_RNA|TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Silent_p.S52S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	117							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGAACTGAGTATCCCACTGG	0.303																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(349-351)agT>agC		TBC1 domain family, member 19							76.0	78.0	77.0					4																	26638889		2203	4299	6502	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26638889T>C	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.351T>C	4.37:g.26638889T>C						TBC1D19_ENST00000511789.1_Silent_p.S52S|TBC1D19_ENST00000515568.1_3'UTR	p.S117S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			5	629	+		Breast(46;0.0503)	117					B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.351T>C	CCDS3439.1																																																																																				0.303	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		73	341	0	0	0	1	0	73	341				
RP11-876N24.2	0	broad.mit.edu	37	16	10960373	10960373	+	RNA	SNP	G	G	A	rs192133588	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10960373G>A	ENST00000572017.1	-	0	438																											GGGTGGGCCCGGAGTGGGCTG	0.572													G|||	3	0.000599042	0.0	0.0029	5008	,	,		17975	0.001		0.0	False		,,,				2504	0.0					ENST00000572017.1																			0															G		2,1748		0,2,873	14.0	13.0	14.0			2.8	0.0	16		14	0,3982		0,0,1991	no	intergenic				0,2,2864	AA,AG,GG		0.0,0.1143,0.0349			10960373	2,5730	875	1991	2866			0							g.chr16:10960373G>A																													16.37:g.10960373G>A														0	438	-									RNA	SNP	ENST00000572017.1	37																																																																																						0.572	RP11-876N24.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000436684.1			19	59	0	0	0	1	0	19	59				
LINGO4	339398	broad.mit.edu	37	1	151773618	151773618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773618G>A	ENST00000368820.3	-	2	2500	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	521						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGCCCTGGGATCCCTGGCA	0.577																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1561-1563)atC>atT		leucine rich repeat and Ig domain containing 4							142.0	148.0	146.0					1																	151773618		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151773618G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1563C>T	1.37:g.151773618G>A							p.I521I	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2500	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		521						Silent	SNP	ENST00000368820.3	37	c.1563C>T	CCDS30855.1																																																																																				0.577	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		208	915	0	0	0	1	0	208	915				
SNX19	399979	broad.mit.edu	37	11	130784879	130784879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130784879G>A	ENST00000265909.4	-	1	1525	c.956C>T	c.(955-957)cCa>cTa	p.P319L	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P319L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	319					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGAACCCTCTGGCTCACTGTA	0.522																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(955-957)cCa>cTa		sorting nexin 19							58.0	64.0	62.0					11																	130784879		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784879G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.956C>T	11.37:g.130784879G>A	ENSP00000265909:p.Pro319Leu					SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P319L|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron	p.P319L	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1525	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	319					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.956C>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	7.140	0.581622	0.13686	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.18657	2.2;2.2	5.21	3.28	0.37604	.	1.460470	0.04065	N	0.306961	T	0.15349	0.0370	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.26935	0.001;0.164	B;B	0.22601	0.002;0.04	T	0.31081	-0.9956	10	0.15066	T	0.55	-0.3415	6.9849	0.24723	0.0947:0.1756:0.7298:0.0	.	319;319	E9PKB9;Q92543	.;SNX19_HUMAN	L	319	ENSP00000265909:P319L;ENSP00000435390:P319L	ENSP00000265909:P319L	P	-	2	0	SNX19	130290089	0.001000	0.12720	0.001000	0.08648	0.374000	0.29953	0.270000	0.18607	0.560000	0.29169	0.644000	0.83932	CCA		0.522	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		13	485	0	0	0	1	0	13	485				
CHD7	55636	broad.mit.edu	37	8	61750324	61750324	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61750324C>A	ENST00000423902.2	+	18	4762	c.4283C>A	c.(4282-4284)gCt>gAt	p.A1428D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1428	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCGACAAGGCTAGTTTGAAA	0.423																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(4282-4284)gCt>gAt		chromodomain helicase DNA binding protein 7							57.0	54.0	55.0					8																	61750324		1831	4076	5907	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61750324C>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4283C>A	8.37:g.61750324C>A	ENSP00000392028:p.Ala1428Asp					CHD7_ENST00000524602.1_Intron	p.A1428D	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		18	4762	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1428			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.4283C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307885	0.95629	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.77358	-1.09	5.83	5.83	0.93111	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.96489	3.83	0.80722	D	1	D	0.56035	0.974	D	0.74348	0.983	D	0.94000	0.7274	10	0.87932	D	0	-15.5774	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1428	Q9P2D1	CHD7_HUMAN	D	1428	ENSP00000392028:A1428D	ENSP00000307304:A1428D	A	+	2	0	CHD7	61912878	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	GCT		0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		20	92	1	0	3.51602e-12	1	3.76992e-12	20	92				
STAP2	55620	broad.mit.edu	37	19	4325511	4325511	+	Silent	SNP	C	C	T	rs145032917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4325511C>T	ENST00000594605.1	-	10	984	c.861G>A	c.(859-861)ccG>ccA	p.P287P	STAP2_ENST00000600324.1_Silent_p.P287P|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	287	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTGACAGCGGCTTGGGGC	0.622													c|||	1	0.000199681	0.0	0.0014	5008	,	,		15876	0.0		0.0	False		,,,				2504	0.0					ENST00000600324.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23						c.(859-861)ccG>ccA		signal transducing adaptor family member 2							78.0	85.0	83.0					19																	4325511		2203	4300	6503	SO:0001819	synonymous_variant	55620					cytoplasm|nucleus	protein binding	g.chr19:4325511C>T	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.861G>A	19.37:g.4325511C>T						STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Silent_p.P287P	p.P287P	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	10	928	-		Hepatocellular(1079;0.137)	287			Pro-rich.		A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	c.861G>A	CCDS45926.1																																																																																				0.622	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		16	744	0	0	0	1	0	16	744				
ARHGEF6	9459	broad.mit.edu	37	X	135862894	135862894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135862894G>A	ENST00000250617.6	-	1	1353	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	50	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACAGAGCCAGGCATGAGTCTG	0.428																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(148-150)Cct>Tct		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							173.0	163.0	166.0					X																	135862894		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135862894G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.148C>T	X.37:g.135862894G>A	ENSP00000250617:p.Pro50Ser						p.P50S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			1	1353	-	Acute lymphoblastic leukemia(192;0.000127)		50			CH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.148C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039400	0.75617	.	.	ENSG00000129675	ENST00000250617	D	0.97352	-4.35	5.91	5.91	0.95273	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.90082	3.085	0.80722	D	1	P	0.45569	0.861	P	0.54856	0.762	D	0.98971	1.0801	10	0.62326	D	0.03	.	19.2692	0.94002	0.0:0.0:1.0:0.0	.	50	Q15052	ARHG6_HUMAN	S	50	ENSP00000250617:P50S	ENSP00000250617:P50S	P	-	1	0	ARHGEF6	135690560	1.000000	0.71417	0.986000	0.45419	0.708000	0.40852	7.652000	0.83633	2.502000	0.84385	0.436000	0.28706	CCT		0.428	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		210	710	0	0	0	1	0	210	710				
SMYD2	56950	broad.mit.edu	37	1	214501057	214501057	+	Missense_Mutation	SNP	C	C	T	rs140909791	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214501057C>T	ENST00000366957.5	+	7	717	c.695C>T	c.(694-696)cCg>cTg	p.P232L	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	232	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GAAATCAAGCCGGGAGAGGAG	0.507											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	C|||	5	0.000998403	0.0	0.0	5008	,	,		18150	0.0		0.0	False		,,,				2504	0.0051					ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(694-696)cCg>cTg		SET and MYND domain containing 2							92.0	92.0	92.0					1																	214501057		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214501057C>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.695C>T	1.37:g.214501057C>T	ENSP00000355924:p.Pro232Leu		OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2221	SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L|SMYD2_ENST00000491455.1_3'UTR	p.P232L	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	7	717	+			232			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.695C>T	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570763	0.65765	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.82803	-1.65;-1.65	5.64	5.64	0.86602	SET domain (3);	0.048193	0.85682	D	0.000000	D	0.86326	0.5906	L	0.45285	1.41	0.80722	D	1	P;D	0.89917	0.828;1.0	B;P	0.58210	0.177;0.835	D	0.84064	0.0376	10	0.32370	T	0.25	0.2157	19.6851	0.95977	0.0:1.0:0.0:0.0	.	232;216	Q9NRG4;Q05C86	SMYD2_HUMAN;.	L	232	ENSP00000355924:P232L;ENSP00000388682:P232L	ENSP00000355924:P232L	P	+	2	0	SMYD2	212567680	1.000000	0.71417	0.338000	0.25549	0.881000	0.50899	7.449000	0.80643	2.645000	0.89757	0.655000	0.94253	CCG		0.507	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		62	273	0	0	0	1	0	62	273				
BFAR	51283	broad.mit.edu	37	16	14738367	14738367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14738367G>A	ENST00000261658.2	+	2	441	c.164G>A	c.(163-165)cGt>cAt	p.R55H	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.R55H|RNU7-125P_ENST00000458760.1_RNA	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	55					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGCTTCTGCCGTCACTGCCTT	0.488																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(163-165)cGt>cAt		bifunctional apoptosis regulator							145.0	133.0	137.0					16																	14738367		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14738367G>A	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.164G>A	16.37:g.14738367G>A	ENSP00000261658:p.Arg55His					BFAR_ENST00000563971.1_Missense_Mutation_p.R55H|BFAR_ENST00000426842.2_5'UTR	p.R55H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			2	441	+			55					A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.164G>A	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520793	0.96416	.	.	ENSG00000103429	ENST00000261658	T	0.08193	3.12	6.02	6.02	0.97574	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.00536	-1.1683	10	0.87932	D	0	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	55;55;55	B2R9R6;Q9NZS9;B4DLM6	.;BFAR_HUMAN;.	H	55	ENSP00000261658:R55H	ENSP00000261658:R55H	R	+	2	0	BFAR	14645868	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.593000	0.98250	2.855000	0.98099	0.655000	0.94253	CGT		0.488	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		155	598	0	0	0	1	0	155	598				
LGALS12	85329	broad.mit.edu	37	11	63283034	63283034	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63283034G>A	ENST00000394618.3	+	8	1004		c.e8-1		LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000255684.5_Splice_Site|LGALS12_ENST00000415491.2_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12						intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCTTCCTGCAGTTTTACTGTG	0.622																																						ENST00000415491.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						c.e7-1		lectin, galactoside-binding, soluble, 12							65.0	61.0	62.0					11																	63283034		2201	4298	6499	SO:0001630	splice_region_variant	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63283034G>A	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.714-1G>A	11.37:g.63283034G>A						LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000255684.5_Splice_Site|LGALS12_ENST00000394618.3_Splice_Site		NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN			7	1144	+								B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Splice_Site	SNP	ENST00000394618.3	37		CCDS8045.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648764	0.67358	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5052	0.75731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGALS12	63039610	1.000000	0.71417	0.660000	0.29694	0.425000	0.31504	5.322000	0.65852	2.739000	0.93911	0.561000	0.74099	.		0.622	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	Intron	38	335	0	0	0	1	0	38	335				
STAT2	6773	broad.mit.edu	37	12	56750351	56750351	+	Missense_Mutation	SNP	G	G	A	rs200501174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56750351G>A	ENST00000314128.4	-	2	28	c.5C>T	c.(4-6)gCg>gTg	p.A2V	STAT2_ENST00000418572.2_Missense_Mutation_p.A2V|STAT2_ENST00000557235.1_Missense_Mutation_p.A2V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	2					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCCACTGCGCCATTTGGGC	0.458																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(4-6)gCg>gTg		signal transducer and activator of transcription 2, 113kDa							84.0	74.0	78.0					12																	56750351		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56750351G>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.5C>T	12.37:g.56750351G>A	ENSP00000315768:p.Ala2Val					STAT2_ENST00000418572.2_Missense_Mutation_p.A2V|STAT2_ENST00000557235.1_Missense_Mutation_p.A2V	p.A2V			P52630	STAT2_HUMAN			2	28	-			2					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.5C>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460637	0.84317	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.57752	0.38;0.38;0.38	4.85	4.85	0.62838	STAT transcription factor, protein interaction (4);	0.308797	0.34725	N	0.003727	T	0.73273	0.3566	M	0.80982	2.52	0.43714	D	0.996183	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.968	T	0.77029	-0.2739	10	0.87932	D	0	-15.0659	15.3582	0.74443	0.0:0.0:1.0:0.0	.	2;2;2	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	V	2	ENSP00000315768:A2V;ENSP00000450751:A2V;ENSP00000387354:A2V	ENSP00000315768:A2V	A	-	2	0	STAT2	55036618	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	6.130000	0.71663	2.700000	0.92200	0.563000	0.77884	GCG		0.458	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		55	252	0	0	0	1	0	55	252				
NAV1	89796	broad.mit.edu	37	1	201749585	201749585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201749585C>T	ENST00000367296.4	+	4	1683	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000367302.1_Silent_p.S434S|NAV1_ENST00000367300.3_Silent_p.S421S|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	421					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGGACTCAGCGATGCCTCAG	0.468																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(1261-1263)agC>agT		neuron navigator 1							127.0	115.0	119.0					1																	201749585		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201749585C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1263C>T	1.37:g.201749585C>T						NAV1_ENST00000367300.3_Silent_p.S421S|NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000367302.1_Silent_p.S434S|IPO9-AS1_ENST00000413035.1_RNA	p.S421S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			4	1683	+			421					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.1263C>T	CCDS1414.2																																																																																				0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		63	373	0	0	0	1	0	63	373				
CACNA1D	776	broad.mit.edu	37	3	53684805	53684805	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53684805G>T	ENST00000350061.5	+	4	994		c.e4-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000288139.4_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTCTTCACAGGAAAAAGTAG	0.358																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.e4-1		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						100.0	97.0	98.0					3																	53684805		2203	4299	6502	SO:0001630	splice_region_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53684805G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.484-1G>T	3.37:g.53684805G>T						CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	4	601	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37		CCDS46848.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.393114	0.83011	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2711	0.90069	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53659845	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.647000	0.98478	2.545000	0.85829	0.436000	0.28706	.		0.358	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Intron	52	359	1	0	6.3008e-33	1	7.45475e-33	52	359				
ABCG1	9619	broad.mit.edu	37	21	43716283	43716283	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43716283C>T	ENST00000361802.2	+	15	1963	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000398437.1_Silent_p.F752F	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	606	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.F596F(2)|p.F606F(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587																																						ENST00000398437.1																			4	Substitution - coding silent(4)	p.F596F(2)|p.F606F(2)	large_intestine(4)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(2254-2256)ttC>ttT		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						110.0	90.0	97.0					21																	43716283		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43716283C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1818C>T	21.37:g.43716283C>T						ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000361802.2_Silent_p.F606F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000347800.2_Silent_p.F591F	p.F752F			P45844	ABCG1_HUMAN			16	2404	+			606					Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.2256C>T	CCDS13682.1																																																																																				0.587	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		57	203	0	0	0	1	0	57	203				
GFER	2671	broad.mit.edu	37	16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A	rs199541169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	GFER_ENST00000569451.1_3'UTR|AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.R104H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	GAAGTGAACCGCAAGCTGGGC	0.607																																						ENST00000248114.6																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(535-537)cGc>cAc		growth factor, augmenter of liver regeneration		G	HIS/ARG	0,4396		0,0,2198	94.0	90.0	91.0		536	1.1	1.0	16		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	GFER	NM_005262.2	29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign	179/206	2035947	2,12994	2198	4300	6498	SO:0001583	missense	2671				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	g.chr16:2035947G>A	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"""ERV1 homolog (S. cerevisiae)"""	600924	"""growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"""			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.536G>A	16.37:g.2035947G>A	ENSP00000248114:p.Arg179His					AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.R104H|GFER_ENST00000569451.1_3'UTR	p.R179H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN			3	542	+			179			ERV/ALR sulfhydryl oxidase.		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	37	c.536G>A	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.680098	0.47886	0.0	2.33E-4	ENSG00000127554	ENST00000248114	T	0.55234	0.53	4.43	1.06	0.20224	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.442657	0.21663	N	0.070988	T	0.54775	0.1879	M	0.89601	3.045	0.43304	D	0.995307	B;B	0.17667	0.023;0.01	B;B	0.13407	0.009;0.009	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.2452	6.6271	0.22837	0.1669:0.0:0.6913:0.1418	.	105;179	Q9UQK8;P55789	.;ALR_HUMAN	H	179	ENSP00000248114:R179H	ENSP00000248114:R179H	R	+	2	0	GFER	1975948	0.135000	0.22499	0.986000	0.45419	0.823000	0.46562	0.436000	0.21526	0.420000	0.25954	0.511000	0.50034	CGC		0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262		66	616	0	0	0	1	0	66	616				
ZNF615	284370	broad.mit.edu	37	19	52497170	52497170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497170G>T	ENST00000602063.1	-	6	1508	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I|ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGATAAGACTGTTCTTC	0.398																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1159-1161)Ctt>Att		zinc finger protein 615							96.0	90.0	92.0					19																	52497170		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497170G>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1159C>A	19.37:g.52497170G>T	ENSP00000473089:p.Leu387Ile					ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I	p.L387I			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1508	-		all_neural(266;0.117)	387					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1159C>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004858	0.54254	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.53857	0.6;0.6	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75852	0.3906	M	0.88450	2.955	0.29985	N	0.817342	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74390	-0.3681	9	0.87932	D	0	.	13.7922	0.63148	0.0:0.0:1.0:0.0	.	392;394;398;387	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	I	387;397;392;397	ENSP00000365906:L387I;ENSP00000375672:L392I	ENSP00000347019:L397I	L	-	1	0	ZNF615	57188982	0.285000	0.24296	0.284000	0.24805	0.778000	0.44026	2.867000	0.48428	1.797000	0.52628	0.650000	0.86243	CTT		0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		83	340	1	0	1.10345e-40	1	1.33888e-40	83	340				
SPTBN1	6711	broad.mit.edu	37	2	54874327	54874327	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54874327G>T	ENST00000356805.4	+	24	5207	c.4926G>T	c.(4924-4926)gaG>gaT	p.E1642D	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1629D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1642	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGCTGTGGAGGACTATGCAG	0.557																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(4885-4887)gaG>gaT		spectrin, beta, non-erythrocytic 1							113.0	103.0	107.0					2																	54874327		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54874327G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4926G>T	2.37:g.54874327G>T	ENSP00000349259:p.Glu1642Asp					SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1642D	p.E1629D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		23	5272	+			1642			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.4887G>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664028	0.47572	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.51574	0.7;0.7	5.93	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.43923	1.385	0.37954	D	0.932739	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.21381	-1.0247	10	0.40728	T	0.16	.	4.0883	0.09957	0.3414:0.0:0.4919:0.1666	.	1629;1642	Q01082-3;Q01082	.;SPTB2_HUMAN	D	1642;1629	ENSP00000349259:E1642D;ENSP00000334156:E1629D	ENSP00000334156:E1629D	E	+	3	2	SPTBN1	54727831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.723000	0.54955	0.850000	0.35239	0.591000	0.81541	GAG		0.557	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			90	444	1	0	8.55712e-49	1	1.05692e-48	90	444				
TTBK1	84630	broad.mit.edu	37	6	43250511	43250511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43250511C>T	ENST00000259750.4	+	14	2116	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	678					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCCCACGAGCTGTGCCTCTG	0.627																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2032-2034)gCt>gTt		tau tubulin kinase 1							95.0	104.0	101.0					6																	43250511		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43250511C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2033C>T	6.37:g.43250511C>T	ENSP00000259750:p.Ala678Val						p.A678V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	2116	+			678					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.2033C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561581	0.27915	.	.	ENSG00000146216	ENST00000259750	T	0.50813	0.73	4.27	3.39	0.38822	.	0.517766	0.18275	N	0.146196	T	0.13457	0.0326	N	0.25647	0.755	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.07888	-1.0749	10	0.17832	T	0.49	.	6.3882	0.21572	0.0:0.6956:0.0:0.3044	.	678	Q5TCY1	TTBK1_HUMAN	V	678	ENSP00000259750:A678V	ENSP00000259750:A678V	A	+	2	0	TTBK1	43358489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.835000	0.39181	0.775000	0.33450	-0.300000	0.09419	GCT		0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			131	651	0	0	0	1	0	131	651				
SYTL1	84958	broad.mit.edu	37	1	27677441	27677441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677441C>T	ENST00000543823.1	+	10	1624	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	SYTL1_ENST00000318074.5_Missense_Mutation_p.R376W|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	388					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCAGCCCCGGGTGAGGCA	0.692																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1162-1164)Cgg>Tgg		synaptotagmin-like 1							33.0	31.0	32.0					1																	27677441		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27677441C>T	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1162C>T	1.37:g.27677441C>T	ENSP00000440704:p.Arg388Trp					SYTL1_ENST00000318074.5_Missense_Mutation_p.R376W|SYTL1_ENST00000490170.1_3'UTR	p.R388W			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	10	1624	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	388					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.1162C>T	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.881040	0.72294	.	.	ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269	T;T	0.08634	3.07;3.07	4.76	4.76	0.60689	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.00473	-1.1718	10	0.87932	D	0	-31.7094	10.4168	0.44327	0.3059:0.6941:0.0:0.0	.	388;376	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	W	376;388;141	ENSP00000316464:R376W;ENSP00000440704:R388W	ENSP00000316464:R376W	R	+	1	2	SYTL1	27550028	0.139000	0.22563	1.000000	0.80357	0.596000	0.36781	0.533000	0.23082	2.487000	0.83934	0.456000	0.33151	CGG		0.692	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		26	213	0	0	0	1	0	26	213				
ZNF557	79230	broad.mit.edu	37	19	7083365	7083365	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083365C>T	ENST00000439035.2	+	8	1122	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ZNF557_ENST00000252840.6_Silent_p.F301F|ZNF557_ENST00000414706.1_Silent_p.F301F			Q8N988	ZN557_HUMAN	zinc finger protein 557	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAAAGGCTTTCGGCACGAGGT	0.483																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(901-903)ttC>ttT		zinc finger protein 557							150.0	160.0	157.0					19																	7083365		2166	4268	6434	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083365C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.882C>T	19.37:g.7083365C>T						ZNF557_ENST00000252840.6_Silent_p.F301F|ZNF557_ENST00000439035.2_Silent_p.F294F	p.F301F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1376	+			294					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.903C>T	CCDS45945.1																																																																																				0.483	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		130	588	0	0	0	1	0	130	588				
GPRIN2	9721	broad.mit.edu	37	10	46999231	46999231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999231G>A	ENST00000374317.1	+	3	624	c.351G>A	c.(349-351)atG>atA	p.M117I	GPRIN2_ENST00000374314.4_Missense_Mutation_p.M117I	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	117										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGCTGCTATGCAGAGGAGCC	0.647																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(349-351)atG>atA		G protein regulated inducer of neurite outgrowth 2							37.0	30.0	33.0					10																	46999231		2203	4296	6499	SO:0001583	missense	9721							g.chr10:46999231G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.351G>A	10.37:g.46999231G>A	ENSP00000363436:p.Met117Ile					GPRIN2_ENST00000374317.1_Missense_Mutation_p.M117I	p.M117I			O60269	GRIN2_HUMAN			1	1306	+			117					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.351G>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496194	0.26861	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03065	4.06;4.06	5.64	2.72	0.32119	.	1.004860	0.08019	N	0.991607	T	0.03739	0.0106	L	0.40543	1.245	0.26608	N	0.972885	B	0.10296	0.003	B	0.04013	0.001	T	0.48937	-0.8990	10	0.18710	T	0.47	-2.2012	5.2223	0.15375	0.1712:0.0:0.6646:0.1642	.	117	O60269	GRIN2_HUMAN	I	117	ENSP00000363436:M117I;ENSP00000363433:M117I	ENSP00000363433:M117I	M	+	3	0	GPRIN2	46419237	0.986000	0.35501	0.797000	0.32132	0.399000	0.30720	0.575000	0.23729	0.395000	0.25257	0.650000	0.86243	ATG		0.647	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		7	190	0	0	0	1	0	7	190				
GLCCI1	113263	broad.mit.edu	37	7	8043574	8043574	+	Missense_Mutation	SNP	G	G	A	rs547798426		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8043574G>A	ENST00000223145.5	+	2	1051	c.494G>A	c.(493-495)aGt>aAt	p.S165N	GLCCI1_ENST00000474269.1_3'UTR|RPA3-AS1_ENST00000469183.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	165						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CGGACCTCTAGTACAATAAGG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		18434	0.0		0.0	False		,,,				2504	0.001					ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(493-495)aGt>aAt		glucocorticoid induced transcript 1							121.0	111.0	114.0					7																	8043574		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8043574G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.494G>A	7.37:g.8043574G>A	ENSP00000223145:p.Ser165Asn					AC006465.3_ENST00000469183.1_3'UTR|GLCCI1_ENST00000474269.1_3'UTR	p.S165N	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	2	1051	+		Ovarian(82;0.0608)	165					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.494G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380708	0.42207	.	.	ENSG00000106415	ENST00000223145;ENST00000414914;ENST00000430798	.	.	.	4.74	0.789	0.18607	.	0.443287	0.25866	N	0.027788	T	0.16428	0.0395	N	0.14661	0.345	0.22354	N	0.999171	B	0.06786	0.001	B	0.08055	0.003	T	0.15925	-1.0420	9	0.22706	T	0.39	-19.5099	5.3351	0.15953	0.3053:0.1403:0.5543:0.0	.	165	Q86VQ1	GLCI1_HUMAN	N	165;53;53	.	ENSP00000223145:S165N	S	+	2	0	GLCCI1	8010099	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.488000	0.45276	0.263000	0.21812	0.551000	0.68910	AGT		0.393	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		65	331	0	0	0	1	0	65	331				
DUSP27	92235	broad.mit.edu	37	1	167097360	167097360	+	Missense_Mutation	SNP	G	G	A	rs199793061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097360G>A	ENST00000361200.2	+	6	3158	c.2992G>A	c.(2992-2994)Ggc>Agc	p.G998S	DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	998	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGAGGCAAATGGCAACTCTGT	0.517																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2992-2994)Ggc>Agc		dual specificity phosphatase 27 (putative)							84.0	79.0	81.0					1																	167097360		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097360G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2992G>A	1.37:g.167097360G>A	ENSP00000354483:p.Gly998Ser					DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S	p.G998S			Q5VZP5	DUS27_HUMAN			6	3158	+			998			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2992G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838723	0.16891	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.42	4.51	0.55191	.	0.123145	0.37136	N	0.002232	T	0.02012	0.0063	M	0.63428	1.95	0.09310	N	1	B	0.21905	0.062	B	0.20767	0.031	T	0.35251	-0.9796	10	0.51188	T	0.08	-31.6984	10.3833	0.44125	0.1494:0.0:0.8506:0.0	.	998	Q5VZP5	DUS27_HUMAN	S	998	ENSP00000354483:G998S;ENSP00000271385:G998S;ENSP00000404874:G998S	ENSP00000271385:G998S	G	+	1	0	DUSP27	165363984	0.996000	0.38824	0.089000	0.20774	0.416000	0.31233	3.441000	0.52893	1.284000	0.44531	0.643000	0.83706	GGC		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		60	379	0	0	0	1	0	60	379				
KIAA0391	9692	broad.mit.edu	37	14	35735990	35735990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35735990C>T	ENST00000557565.1	+	6	1714	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	445					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTCCTAGGCCGGAAGCACAT	0.478																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1333-1335)Cgg>Tgg		KIAA0391							215.0	207.0	210.0					14																	35735990		2203	4300	6503	SO:0001583	missense	9692				tRNA processing	mitochondrion		g.chr14:35735990C>T	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1333C>T	14.37:g.35735990C>T	ENSP00000454657:p.Arg445Trp					KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W	p.R445W			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	6	1714	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		445					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	c.1333C>T	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972826	0.74246	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.55588	0.58;0.51;0.52;0.83	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.88181	2.935	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-8.7734	12.7785	0.57464	0.2972:0.7028:0.0:0.0	.	429;445	O15091-2;O15091	.;MRRP3_HUMAN	W	350;350;429;445;429;73;73	ENSP00000250377:R350W;ENSP00000324697:R429W;ENSP00000440915:R445W;ENSP00000450898:R73W	ENSP00000250377:R350W	R	+	1	2	KIAA0391	34805741	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.588000	0.53964	1.369000	0.46134	0.650000	0.86243	CGG		0.478	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		136	538	0	0	0	1	0	136	538				
EGR1	1958	broad.mit.edu	37	5	137801568	137801568	+	Missense_Mutation	SNP	C	C	A	rs538748263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137801568C>A	ENST00000239938.4	+	1	390	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	40					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGATGATGCTGCTGAGCAA	0.667																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(118-120)Ctg>Atg		early growth response 1							77.0	69.0	72.0					5																	137801568		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801568C>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.118C>A	5.37:g.137801568C>A	ENSP00000239938:p.Leu40Met						p.L40M	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	390	+			40						Missense_Mutation	SNP	ENST00000239938.4	37	c.118C>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697751	0.48307	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.14391	2.51	5.0	4.12	0.48240	.	0.123911	0.53938	N	0.000047	T	0.09686	0.0238	L	0.28344	0.845	0.41657	D	0.989166	P;B	0.34864	0.473;0.001	B;B	0.32393	0.145;0.005	T	0.19353	-1.0308	10	0.14656	T	0.56	-6.652	14.8172	0.70045	0.1452:0.8548:0.0:0.0	.	40;40	B4DNX4;P18146	.;EGR1_HUMAN	M	40	ENSP00000239938:L40M	ENSP00000239938:L40M	L	+	1	2	EGR1	137829467	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.331000	0.59273	1.304000	0.44892	0.486000	0.48141	CTG		0.667	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		104	421	1	0	8.66691e-33	1	1.02489e-32	104	421				
SVEP1	79987	broad.mit.edu	37	9	113312321	113312321	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312321A>G	ENST00000401783.2	-	2	931	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P|SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	199	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCCCATTGGAATATCCATCA	0.418																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(595-597)Tcc>Ccc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							179.0	176.0	177.0					9																	113312321		1908	4128	6036	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312321A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.595T>C	9.37:g.113312321A>G	ENSP00000384917:p.Ser199Pro					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P	p.S199P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	931	-			199			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.595T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615636	0.87359	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.71920	2.185	0.46437	D	0.999046	D;D;D	0.89917	0.99;0.971;1.0	P;P;D	0.85130	0.855;0.9;0.997	D	0.92626	0.6112	10	0.87932	D	0	.	15.897	0.79341	1.0:0.0:0.0:0.0	.	199;199;199	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	199;176;199;176	ENSP00000384917:S199P;ENSP00000363593:S176P;ENSP00000304118:S199P;ENSP00000363585:S176P	ENSP00000304118:S199P	S	-	1	0	SVEP1	112352142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.209000	0.71365	0.460000	0.39030	TCC		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				107	590	0	0	0	1	0	107	590				
APLP1	333	broad.mit.edu	37	19	36362206	36362206	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36362206G>T	ENST00000221891.4	+	4	684	c.492G>T	c.(490-492)atG>atT	p.M164I	APLP1_ENST00000537454.2_Missense_Mutation_p.M125I|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.M158I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	164	Copper-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGCGCATGGACCAATGTG	0.627																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(490-492)atG>atT		amyloid beta (A4) precursor-like protein 1							83.0	70.0	75.0					19																	36362206		2203	4299	6502	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362206G>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.492G>T	19.37:g.36362206G>T	ENSP00000221891:p.Met164Ile					APLP1_ENST00000537454.2_Missense_Mutation_p.M125I|APLP1_ENST00000586861.1_Missense_Mutation_p.M158I	p.M164I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	684	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		164			Copper-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.492G>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.867486	0.91587	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94497	-3.34;-3.44	4.86	4.86	0.63082	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.56097	D	0.000027	D	0.96664	0.8911	M	0.72894	2.215	0.54753	D	0.999987	P;P;D;D	0.58620	0.917;0.901;0.979;0.983	P;B;D;D	0.72338	0.857;0.398;0.961;0.977	D	0.96868	0.9637	10	0.56958	D	0.05	-12.826	15.4941	0.75634	0.0:0.0:1.0:0.0	.	158;125;164;164	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	I	125;164	ENSP00000441501:M125I;ENSP00000221891:M164I	ENSP00000221891:M164I	M	+	3	0	APLP1	41054046	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.620000	0.67736	2.257000	0.74773	0.479000	0.44913	ATG		0.627	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		19	82	1	0	2.94398e-08	1	3.0722e-08	19	82				
FAM208B	54906	broad.mit.edu	37	10	5777300	5777300	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5777300A>G	ENST00000328090.5	+	12	1863	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	413																	TTTGTACAGAAAACCAAATTG	0.408																																						ENST00000328090.5																			0											c.(1237-1239)aAa>aGa		family with sequence similarity 208, member B							150.0	146.0	147.0					10																	5777300		1829	4087	5916	SO:0001583	missense	54906							g.chr10:5777300A>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1238A>G	10.37:g.5777300A>G	ENSP00000328426:p.Lys413Arg					RP11-336A10.2_ENST00000411512.2_RNA	p.K413R	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			12	1863	+			413					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1238A>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729368	0.48833	.	.	ENSG00000108021	ENST00000328090	D	0.98437	-4.93	5.78	1.49	0.22878	.	0.284575	0.30593	N	0.009292	D	0.93825	0.8025	L	0.38175	1.15	0.26514	N	0.974557	P	0.42827	0.791	B	0.35240	0.198	D	0.88702	0.3216	10	0.39692	T	0.17	.	5.9868	0.19438	0.2203:0.5794:0.0:0.2003	.	413	Q5VWN6	F208B_HUMAN	R	413	ENSP00000328426:K413R	ENSP00000328426:K413R	K	+	2	0	C10orf18	5817306	0.983000	0.35010	0.986000	0.45419	0.992000	0.81027	0.510000	0.22723	-0.007000	0.14345	0.533000	0.62120	AAA		0.408	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		172	734	0	0	0	1	0	172	734				
PPRC1	23082	broad.mit.edu	37	10	103901019	103901019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103901019C>T	ENST00000278070.2	+	5	2793	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A	PPRC1_ENST00000413464.2_Silent_p.A918A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	918	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCACTATGCCCCCTTGCCAT	0.597																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2752-2754)gcC>gcT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							188.0	125.0	146.0					10																	103901019		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901019C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2754C>T	10.37:g.103901019C>T						PPRC1_ENST00000413464.2_Silent_p.A918A	p.A918A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2793	+		Colorectal(252;0.122)	918			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.2754C>T	CCDS7529.1																																																																																				0.597	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		79	379	0	0	0	1	0	79	379				
TBC1D9	23158	broad.mit.edu	37	4	141578910	141578910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141578910G>A	ENST00000442267.2	-	12	2052	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	660	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CAGTCGTACAGCTGTGGGACG	0.517																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1978-1980)Ctg>Ttg		TBC1 domain family, member 9 (with GRAM domain)							197.0	195.0	196.0					4																	141578910		2124	4239	6363	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578910G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1978C>T	4.37:g.141578910G>A							p.L660L	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			12	2052	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	660			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.1978C>T	CCDS47136.1																																																																																				0.517	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		144	613	0	0	0	1	0	144	613				
IFNGR1	3459	broad.mit.edu	37	6	137519427	137519427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137519427T>C	ENST00000367739.4	-	7	1332	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	404					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GTGATCACTCTCAGAACAATT	0.413																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1210-1212)gAg>gGg		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						78.0	78.0	78.0					6																	137519427		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519427T>C		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1211A>G	6.37:g.137519427T>C	ENSP00000356713:p.Glu404Gly					IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	p.E404G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1332	-	Colorectal(23;0.24)		404					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.1211A>G	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111371	0.56398	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72167	-0.63;-0.48	5.99	4.84	0.62591	.	1.612290	0.03414	N	0.205248	T	0.37100	0.0991	N	0.08118	0	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.15484	0.013;0.006	T	0.34527	-0.9825	10	0.51188	T	0.08	.	8.0449	0.30542	0.0:0.0881:0.0:0.9119	.	376;404	F5H5M7;P15260	.;INGR1_HUMAN	G	404;376	ENSP00000356713:E404G;ENSP00000443282:E376G	ENSP00000356713:E404G	E	-	2	0	IFNGR1	137561120	0.962000	0.33011	0.941000	0.38009	0.841000	0.47740	2.407000	0.44565	2.297000	0.77311	0.496000	0.49642	GAG		0.413	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			48	245	0	0	0	1	0	48	245				
MANSC1	54682	broad.mit.edu	37	12	12496182	12496182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12496182G>T	ENST00000535902.1	-	2	630	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	MANSC1_ENST00000396349.3_Intron			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	23						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTAGCAGACAGCCTTAGTGTC	0.403																																						ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(67-69)Ctg>Atg		MANSC domain containing 1							122.0	113.0	116.0					12																	12496182		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12496182G>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.67C>A	12.37:g.12496182G>T	ENSP00000438205:p.Leu23Met					MANSC1_ENST00000396349.3_Intron	p.L23M			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	2	630	-		Prostate(47;0.0865)	23					Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.67C>A	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660531	0.29515	.	.	ENSG00000111261	ENST00000535902;ENST00000543314	T;T	0.49139	2.2;0.79	5.33	4.43	0.53597	.	0.762541	0.10293	N	0.692124	T	0.49983	0.1589	L	0.29908	0.895	0.09310	N	0.999992	D	0.64830	0.994	P	0.57371	0.819	T	0.33292	-0.9874	10	0.54805	T	0.06	0.5003	8.0655	0.30659	0.0867:0.1588:0.7545:0.0	.	23	Q9H8J5	MANS1_HUMAN	M	23	ENSP00000438205:L23M;ENSP00000437624:L23M	ENSP00000438205:L23M	L	-	1	2	MANSC1	12387449	0.026000	0.19158	0.056000	0.19401	0.210000	0.24377	1.945000	0.40273	1.198000	0.43158	0.655000	0.94253	CTG		0.403	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		64	330	1	0	3.57465e-26	1	4.11543e-26	64	330				
E2F5	1875	broad.mit.edu	37	8	86121509	86121509	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121509A>G	ENST00000416274.2	+	6	782	c.748A>G	c.(748-750)Aca>Gca	p.T250A	E2F5_ENST00000521429.1_Missense_Mutation_p.T77A|E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.T250A|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	250					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGATGACCTCACACAGCCTTC	0.483																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(748-750)Aca>Gca		E2F transcription factor 5, p130-binding							112.0	112.0	112.0					8																	86121509		2007	4185	6192	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86121509A>G	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.748A>G	8.37:g.86121509A>G	ENSP00000398124:p.Thr250Ala					E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.T77A|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A|E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000416274.2_Missense_Mutation_p.T250A	p.T250A			Q15329	E2F5_HUMAN			6	944	+			250					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.748A>G	CCDS47885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.274|4.274	0.050017|0.050017	0.08243|0.08243	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000520225|ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	.|D;D;D;D;D;D	.|0.86562	.|-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	6.13|6.13	4.98|4.98	0.66077|0.66077	.|.	.|0.486351	.|0.24282	.|N	.|0.039882	T|T	0.73923|0.73923	0.3649|0.3649	N|N	0.20986|0.20986	0.625|0.625	0.33317|0.33317	D|D	0.566848|0.566848	.|B;B;B	.|0.06786	.|0.001;0.001;0.0	.|B;B;B	.|0.10450	.|0.001;0.005;0.002	T|T	0.66232|0.66232	-0.5975|-0.5975	5|10	.|0.08179	.|T	.|0.78	-13.1823|-13.1823	6.1664|6.1664	0.20392|0.20392	0.715:0.138:0.147:0.0|0.715:0.138:0.147:0.0	.|.	.|77;250;250	.|E5RHD4;Q15329-2;Q15329	.|.;.;E2F5_HUMAN	R|A	21|250;251;250;89;77;86	.|ENSP00000414312:T250A;ENSP00000256117:T251A;ENSP00000398124:T250A;ENSP00000429120:T89A;ENSP00000428606:T77A;ENSP00000429669:T86A	.|ENSP00000256117:T251A	H|T	+|+	2|1	0|0	E2F5|E2F5	86308761|86308761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	2.170000|2.170000	0.42443|0.42443	1.155000|1.155000	0.42497|0.42497	0.529000|0.529000	0.55759|0.55759	CAC|ACA		0.483	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		36	235	0	0	0	1	0	36	235				
GPER1	2852	broad.mit.edu	37	7	1131792	1131792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131792G>A	ENST00000297469.3	+	2	1119	c.428G>A	c.(427-429)aGc>aAc	p.S143N	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.S143N|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.S143N|GPER1_ENST00000401670.1_Missense_Mutation_p.S143N|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	143				NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736). {ECO:0000305}.	apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										AACATGTACAGCAGCGTCTTC	0.612																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(427-429)aGc>aAc									151.0	109.0	123.0					7																	1131792		2203	4300	6503	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131792G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.428G>A	7.37:g.1131792G>A	ENSP00000297469:p.Ser143Asn					GPER_ENST00000297469.3_Missense_Mutation_p.S143N|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.S143N|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.S143N	p.S143N	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1312	+		Ovarian(82;0.0253)	143	NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736).				A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.428G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476454	0.84640	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.80982	2.52	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.88794	0.3280	10	0.87932	D	0	-34.1675	17.8628	0.88786	0.0:0.0:1.0:0.0	.	143	Q99527	GPER_HUMAN	N	143	ENSP00000385151:S143N;ENSP00000380281:S143N;ENSP00000297469:S143N;ENSP00000380277:S143N	ENSP00000297469:S143N	S	+	2	0	GPER	1098318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.204000	0.77872	2.466000	0.83321	0.643000	0.83706	AGC		0.612	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		122	468	0	0	0	1	0	122	468				
CFLAR	8837	broad.mit.edu	37	2	201994608	201994608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994608A>G	ENST00000309955.3	+	2	535	c.20A>G	c.(19-21)cAt>cGt	p.H7R	CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R|CFLAR_ENST00000395148.2_Missense_Mutation_p.H7R|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	7	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GAAGTCATCCATCAGGTTGAA	0.493																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000395148.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(19-21)cAt>cGt		CASP8 and FADD-like apoptosis regulator							171.0	167.0	169.0					2																	201994608		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:201994608A>G	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.20A>G	2.37:g.201994608A>G	ENSP00000312455:p.His7Arg					CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000309955.2_Missense_Mutation_p.H7R|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R	p.H7R			O15519	CFLAR_HUMAN			2	232	+			7			DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.20A>G	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358134	0.41801	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.72;0.82;0.82;3.59;4.0;0.86;3.72;0.82;3.59	5.9	3.44	0.39384	DEATH-like (2);Death effector (3);	0.383959	0.31221	N	0.008038	T	0.60534	0.2276	M	0.66939	2.045	0.38335	D	0.943914	P;D;D;D;P;D;P	0.76494	0.899;0.999;0.999;0.999;0.876;0.967;0.899	P;D;D;D;P;P;P	0.70716	0.834;0.95;0.95;0.97;0.794;0.744;0.901	T	0.59016	-0.7533	10	0.22109	T	0.4	-10.5801	10.0593	0.42263	0.7312:0.0:0.0:0.2688	.	7;7;7;7;7;7;7	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	R	7	ENSP00000312455:H7R;ENSP00000339335:H7R;ENSP00000347757:H7R;ENSP00000339326:H7R;ENSP00000345807:H7R;ENSP00000342809:H7R;ENSP00000399420:H7R;ENSP00000406775:H7R;ENSP00000411535:H7R	ENSP00000312455:H7R	H	+	2	0	CFLAR	201702853	1.000000	0.71417	0.990000	0.47175	0.091000	0.18340	3.037000	0.49775	0.434000	0.26340	0.460000	0.39030	CAT		0.493	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		187	611	0	0	0	1	0	187	611				
GCN1L1	10985	broad.mit.edu	37	12	120599349	120599349	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120599349C>T	ENST00000300648.6	-	22	2393	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	794					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGTTCTCTCGCTTCATGTT	0.527																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2380-2382)cGa>cAa		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							236.0	231.0	233.0					12																	120599349		2116	4240	6356	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120599349C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2381G>A	12.37:g.120599349C>T	ENSP00000300648:p.Arg794Gln						p.R794Q	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			22	2393	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		794					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.2381G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843875	0.97016	.	.	ENSG00000089154	ENST00000300648	T	0.51071	0.72	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.68762	-0.5323	10	0.41790	T	0.15	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	794	Q92616	GCN1L_HUMAN	Q	794	ENSP00000300648:R794Q	ENSP00000300648:R794Q	R	-	2	0	GCN1L1	119083732	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.232000	0.78116	2.767000	0.95098	0.655000	0.94253	CGA		0.527	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			111	519	0	0	0	1	0	111	519				
DIAPH1	1729	broad.mit.edu	37	5	140962828	140962828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140962828C>T	ENST00000398557.4	-	6	705	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.A189T	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAGGAGGCCAAGCCTTCA	0.413																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(565-567)Gcc>Acc		diaphanous-related formin 1							166.0	160.0	162.0					5																	140962828		1935	4150	6085	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140962828C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.565G>A	5.37:g.140962828C>T	ENSP00000381565:p.Ala189Thr					DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189T	p.A189T			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	705	-			189			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.565G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356752	0.61293	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.92	3.16	0.36331	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	T	0.76183	0.3952	N	0.25647	0.755	0.36354	D	0.860293	B;P	0.35192	0.429;0.489	B;B	0.25291	0.043;0.059	T	0.72487	-0.4278	10	0.48119	T	0.1	.	4.3467	0.11136	0.2726:0.5099:0.0:0.2175	.	180;189	E9PEZ2;O60610	.;DIAP1_HUMAN	T	189;135;180;180;180;189;189;180	ENSP00000373706:A189T;ENSP00000429282:A135T;ENSP00000381570:A180T;ENSP00000373709:A180T;ENSP00000381572:A180T;ENSP00000381565:A189T;ENSP00000253811:A189T;ENSP00000428268:A180T	ENSP00000253811:A189T	A	-	1	0	DIAPH1	140943012	0.920000	0.31207	1.000000	0.80357	0.989000	0.77384	1.064000	0.30579	0.394000	0.25230	0.650000	0.86243	GCC		0.413	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		143	552	0	0	0	1	0	143	552				
OXSR1	9943	broad.mit.edu	37	3	38292919	38292919	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38292919A>G	ENST00000311806.3	+	16	1773	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTCTCAGGAACTCATTTCTG	0.478																																						ENST00000311806.3																			0				skin(1)	1						c.(1399-1401)gaA>gaG		oxidative stress responsive 1							326.0	292.0	304.0					3																	38292919		2203	4300	6503	SO:0001819	synonymous_variant	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38292919A>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1401A>G	3.37:g.38292919A>G							p.E467E	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	16	1773	+			467						Silent	SNP	ENST00000311806.3	37	c.1401A>G	CCDS2675.1																																																																																				0.478	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		230	941	0	0	0	1	0	230	941				
RECQL	5965	broad.mit.edu	37	12	21624421	21624421	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21624421T>C	ENST00000444129.2	-	13	2076	c.1608A>G	c.(1606-1608)acA>acG	p.T536T	RECQL_ENST00000421138.2_Silent_p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	536					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CACGAGGAAGTGTGGGAGCCA	0.398								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1606-1608)acA>acG	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							123.0	111.0	115.0					12																	21624421		2203	4300	6503	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21624421T>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1608A>G	12.37:g.21624421T>C						RECQL_ENST00000421138.2_Silent_p.T536T	p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			13	2076	-			536					A8K6G2	Silent	SNP	ENST00000444129.2	37	c.1608A>G	CCDS31756.1																																																																																				0.398	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		88	366	0	0	0	1	0	88	366				
SIPA1L1	26037	broad.mit.edu	37	14	72152161	72152161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72152161C>T	ENST00000555818.1	+	10	3535	c.3187C>T	c.(3187-3189)Cga>Tga	p.R1063*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1063					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTTTCCCTTCCGAAATAATAA	0.512																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3187-3189)Cga>Tga		signal-induced proliferation-associated 1 like 1							104.0	101.0	102.0					14																	72152161		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72152161C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3187C>T	14.37:g.72152161C>T	ENSP00000450832:p.Arg1063*					SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*	p.R1063*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3535	+			1063					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.3187C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	41	8.980838	0.99025	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.48	5.48	0.80851	.	0.057524	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3747	12.7979	0.57569	0.2704:0.7296:0.0:0.0	.	.	.	.	X	1063;1063;1063;538	.	ENSP00000351352:R1063X	R	+	1	2	SIPA1L1	71221914	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.388000	0.34442	2.726000	0.93360	0.561000	0.74099	CGA		0.512	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		107	460	0	0	0	1	0	107	460				
NAGLU	4669	broad.mit.edu	37	17	40695695	40695695	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695695C>A	ENST00000225927.2	+	6	1772	c.1671C>A	c.(1669-1671)cgC>cgA	p.R557R	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	557					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCGCCTTCCGCTACGACCTGC	0.607																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(1669-1671)cgC>cgA		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						28.0	26.0	27.0					17																	40695695		2198	4288	6486	SO:0001819	synonymous_variant	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695695C>A		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1671C>A	17.37:g.40695695C>A						RP11-400F19.8_ENST00000585572.1_RNA	p.R557R	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	1772	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	557						Silent	SNP	ENST00000225927.2	37	c.1671C>A	CCDS11427.1																																																																																				0.607	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		15	183	1	0	6.31663e-08	1	6.57865e-08	15	183				
CAMKMT	79823	broad.mit.edu	37	2	44617401	44617401	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44617401T>C	ENST00000378494.3	+	3	377	c.333T>C	c.(331-333)aaT>aaC	p.N111N	CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000402247.1_Silent_p.N111N|CAMKMT_ENST00000403853.3_Silent_p.N111N|CAMKMT_ENST00000407131.1_Silent_p.N111N	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	111						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GATCCTTGAATGTTGAAGATG	0.303																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(331-333)aaT>aaC		calmodulin-lysine N-methyltransferase							91.0	92.0	92.0					2																	44617401		2203	4295	6498	SO:0001819	synonymous_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44617401T>C		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.333T>C	2.37:g.44617401T>C						CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000407131.1_Silent_p.N111N|CAMKMT_ENST00000402247.1_Silent_p.N111N|CAMKMT_ENST00000403853.3_Silent_p.N111N	p.N111N	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			3	377	+			111					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Silent	SNP	ENST00000378494.3	37	c.333T>C	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	T	9.256	1.042061	0.19748	.	.	ENSG00000143919	ENST00000428929	.	.	.	5.71	3.39	0.38822	.	.	.	.	.	T	0.56834	0.2012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-9.2264	7.9724	0.30134	0.0:0.1593:0.0:0.8407	.	.	.	.	R	57	.	.	C	+	1	0	CAMKMT	44470905	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.498000	0.35660	1.006000	0.39211	0.533000	0.62120	TGT		0.303	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		80	280	0	0	0	1	0	80	280				
AOX1	316	broad.mit.edu	37	2	201477379	201477379	+	Silent	SNP	G	G	A	rs146899961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201477379G>A	ENST00000374700.2	+	14	1552	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	437					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGAGAATGCGCTAGCGATAG	0.468																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1309-1311)gcG>gcA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						146.0	137.0	140.0					2																	201477379		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201477379G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1311G>A	2.37:g.201477379G>A						AOX1_ENST00000485106.1_3'UTR	p.A437A	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			14	1552	+			437					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1311G>A	CCDS33360.1																																																																																				0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		18	562	0	0	0	1	0	18	562				
MUC4	4585	broad.mit.edu	37	3	195517585	195517585	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195517585A>G	ENST00000463781.3	-	2	1325	c.866T>C	c.(865-867)cTt>cCt	p.L289P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L289P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	294					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACTGGCATAAGACTTCCAGT	0.458																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(865-867)cTt>cCt		mucin 4, cell surface associated							176.0	162.0	166.0					3																	195517585		1984	4160	6144	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517585A>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.866T>C	3.37:g.195517585A>G	ENSP00000417498:p.Leu289Pro					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L289P|MUC4_ENST00000349607.4_Intron	p.L289P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1325	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	294					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.866T>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.264	-0.150552	0.06585	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.36520	1.25;1.25	2.84	-1.15	0.09709	.	.	.	.	.	T	0.22205	0.0535	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.001	B;B	0.20767	0.031;0.004	T	0.27331	-1.0077	9	0.25106	T	0.35	.	6.2536	0.20861	0.4505:0.0:0.5495:0.0	.	289;294	E7ESK3;Q99102	.;MUC4_HUMAN	P	289;289;263	ENSP00000417498:L289P;ENSP00000420243:L289P	ENSP00000376209:L263P	L	-	2	0	MUC4	197001980	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.104000	0.03326	-0.195000	0.10382	0.436000	0.28706	CTT		0.458	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		82	294	0	0	0	1	0	82	294				
TMEM95	339168	broad.mit.edu	37	17	7258594	7258594	+	Missense_Mutation	SNP	C	C	T	rs141789227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7258594C>T	ENST00000576060.1	+	1	98	c.71C>T	c.(70-72)gCc>gTc	p.A24V	TMEM95_ENST00000389982.4_Missense_Mutation_p.A24V|TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	24						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CGCCTCCCAGCCCACGACTTG	0.662																																						ENST00000389982.4																			0				large_intestine(1)|lung(2)	3						c.(70-72)gCc>gTc		transmembrane protein 95		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	30.0	31.0	31.0		71	-3.2	0.0	17	dbSNP_134	31	0,8600		0,0,4300	no	missense	TMEM95	NM_198154.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	24/185	7258594	1,13005	2203	4300	6503	SO:0001583	missense	339168					integral to membrane		g.chr17:7258594C>T		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.71C>T	17.37:g.7258594C>T	ENSP00000460828:p.Ala24Val					TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V|TMEM95_ENST00000576060.1_Missense_Mutation_p.A24V	p.A24V			Q3KNT9	TMM95_HUMAN			1	153	+		Prostate(122;0.173)	24					B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	C	18.74	3.688647	0.68271	2.27E-4	0.0	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	-3.19	0.05171	.	0.596942	0.13945	N	0.351909	T	0.31167	0.0788	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33238	0.403;0.403;0.403	B;B;B	0.38842	0.161;0.283;0.161	T	0.24012	-1.0172	9	0.41790	T	0.15	.	14.8977	0.70656	0.7628:0.2372:0.0:0.0	.	24;24;24	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	V	24	.	ENSP00000331466:A24V	A	+	2	0	TMEM95	7199318	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.615000	0.05597	-0.717000	0.04955	0.561000	0.74099	GCC		0.662	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		36	192	0	0	0	1	0	36	192				
HOXB8	3218	broad.mit.edu	37	17	46691797	46691797	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691797C>T	ENST00000239144.4	-	1	504	c.270G>A	c.(268-270)ccG>ccA	p.P90P	HOXB8_ENST00000576562.1_Silent_p.P90P|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	90					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						GGCGTTGCAGCGGGTCGTAGC	0.687																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(268-270)ccG>ccA		homeobox B8							49.0	49.0	49.0					17																	46691797		2203	4298	6501	SO:0001819	synonymous_variant	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691797C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.270G>A	17.37:g.46691797C>T						HOXB8_ENST00000576562.1_Silent_p.P90P|HOXB7_ENST00000567101.1_Intron	p.P90P	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	504	-			90					Q9H1I2	Silent	SNP	ENST00000239144.4	37	c.270G>A	CCDS11533.1																																																																																				0.687	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			17	372	0	0	0	1	0	17	372				
SPTBN2	6712	broad.mit.edu	37	11	66466946	66466946	+	Missense_Mutation	SNP	C	C	T	rs372553453		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66466946C>T	ENST00000533211.1	-	18	4038	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1236					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TACCAGCTGGCGGCCAGCCTC	0.547																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3706-3708)cGc>cAc		spectrin, beta, non-erythrocytic 2		C	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	90.0	86.0	87.0		3707	4.2	1.0	11		87	0,8590		0,0,4295	no	missense	SPTBN2	NM_006946.2	29	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging	1236/2391	66466946	2,12988	2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466946C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3707G>A	11.37:g.66466946C>T	ENSP00000432568:p.Arg1236His					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236H	p.R1236H			O15020	SPTN2_HUMAN			18	4038	-			1236					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3707G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869278	0.91587	4.55E-4	0.0	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35789	1.29;1.29;1.29	5.16	4.23	0.50019	.	0.157403	0.43919	D	0.000501	T	0.57562	0.2062	M	0.75447	2.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.58696	-0.7591	10	0.51188	T	0.08	.	13.2305	0.59941	0.0:0.9195:0.0:0.0805	.	1236	O15020	SPTN2_HUMAN	H	1236	ENSP00000432568:R1236H;ENSP00000311489:R1236H;ENSP00000433593:R1236H	ENSP00000311489:R1236H	R	-	2	0	SPTBN2	66223522	0.023000	0.18921	1.000000	0.80357	0.916000	0.54674	1.257000	0.32932	2.670000	0.90874	0.591000	0.81541	CGC		0.547	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		14	508	0	0	0	1	0	14	508				
RDX	5962	broad.mit.edu	37	11	110124728	110124728	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110124728T>C	ENST00000343115.4	-	9	1221	c.902A>G	c.(901-903)gAa>gGa	p.E301G	RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000528498.1_Missense_Mutation_p.E301G|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.E301G	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	301					actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTGTTGTACTTCAATAGTATC	0.418																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(901-903)gAa>gGa		radixin							124.0	108.0	113.0					11																	110124728		2201	4298	6499	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110124728T>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.902A>G	11.37:g.110124728T>C	ENSP00000342830:p.Glu301Gly					RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.E301G|RDX_ENST00000528498.1_Missense_Mutation_p.E301G	p.E301G	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	9	1221	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	301					A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.902A>G	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661312	0.67700	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.974	D	0.94672	0.7857	10	0.87932	D	0	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	165;301;301	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	G	301;301;301;301;165	ENSP00000432112:E301G;ENSP00000384136:E301G;ENSP00000342830:E301G;ENSP00000445826:E165G	ENSP00000342830:E301G	E	-	2	0	RDX	109629938	1.000000	0.71417	0.689000	0.30133	0.065000	0.16274	7.986000	0.88173	2.184000	0.69523	0.533000	0.62120	GAA		0.418	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		66	314	0	0	0	1	0	66	314				
DUOX1	53905	broad.mit.edu	37	15	45453117	45453117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45453117G>T	ENST00000321429.4	+	30	4192	c.3785G>T	c.(3784-3786)gGc>gTc	p.G1262V	DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V|DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1262	Ferric oxidoreductase.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTATGGGGGCGACAAGCTG	0.577																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3784-3786)gGc>gTc		dual oxidase 1							137.0	120.0	126.0					15																	45453117		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45453117G>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3785G>T	15.37:g.45453117G>T	ENSP00000317997:p.Gly1262Val					DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.G1262V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	30	4192	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1262			Ferric oxidoreductase.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3785G>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487774	0.26686	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85773	-2.03;-2.03	3.47	3.47	0.39725	.	0.341780	0.30869	N	0.008712	T	0.78729	0.4329	L	0.49256	1.55	0.51767	D	0.999938	B	0.31174	0.311	B	0.29524	0.103	T	0.74216	-0.3737	10	0.15952	T	0.53	-26.5883	12.8006	0.57584	0.0:0.0:1.0:0.0	.	1262	Q9NRD9	DUOX1_HUMAN	V	1262	ENSP00000317997:G1262V;ENSP00000373689:G1262V	ENSP00000317997:G1262V	G	+	2	0	DUOX1	43240409	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.581000	0.53914	1.920000	0.55613	0.462000	0.41574	GGC		0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		105	400	1	0	4.10057e-40	1	4.96875e-40	105	400				
ZNF555	148254	broad.mit.edu	37	19	2853592	2853592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2853592G>A	ENST00000334241.4	+	4	1667	c.1529G>A	c.(1528-1530)tGc>tAc	p.C510Y	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.C509Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTATAAATGCAAGCAGTGT	0.413																																						ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(1528-1530)tGc>tAc		zinc finger protein 555							121.0	111.0	114.0					19																	2853592		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853592G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1529G>A	19.37:g.2853592G>A	ENSP00000334853:p.Cys510Tyr					ZNF555_ENST00000591539.1_Missense_Mutation_p.C509Y|AC006130.3_ENST00000589365.1_RNA	p.C510Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1667	+			510					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1529G>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485938	0.63962	.	.	ENSG00000186300	ENST00000334241	D	0.85088	-1.94	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93051	0.7788	M	0.91768	3.24	0.38304	D	0.943076	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94845	0.8008	9	0.87932	D	0	.	12.2446	0.54563	0.0:0.0:1.0:0.0	.	510;509	Q8NEP9;A8KA89	ZN555_HUMAN;.	Y	510	ENSP00000334853:C510Y	ENSP00000334853:C510Y	C	+	2	0	ZNF555	2804592	1.000000	0.71417	0.018000	0.16275	0.957000	0.61999	8.594000	0.90836	1.799000	0.52666	0.561000	0.74099	TGC		0.413	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		73	423	0	0	0	1	0	73	423				
MCOLN2	255231	broad.mit.edu	37	1	85431291	85431291	+	Missense_Mutation	SNP	G	G	A	rs201171839		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85431291G>A	ENST00000370608.3	-	2	245	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	60					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GGAATCTGGCGTCTGGCTCGG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18080	0.001		0.0	False		,,,				2504	0.0					ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(178-180)Cgc>Tgc		mucolipin 2							104.0	104.0	104.0					1																	85431291		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85431291G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.178C>T	1.37:g.85431291G>A	ENSP00000359640:p.Arg60Cys					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	p.R60C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	2	245	-			60					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.178C>T	CCDS30762.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.63	3.177947	0.57692	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.54279	0.58;0.58	5.87	2.85	0.33270	.	0.557733	0.21351	N	0.075975	T	0.31071	0.0785	L	0.47190	1.495	0.40235	D	0.977896	D	0.62365	0.991	B	0.43623	0.425	T	0.09509	-1.0671	10	0.62326	D	0.03	-28.1451	10.4417	0.44469	0.0598:0.1029:0.7311:0.1063	.	60	Q8IZK6	MCLN2_HUMAN	C	60;32	ENSP00000359640:R60C;ENSP00000284027:R32C	ENSP00000284027:R32C	R	-	1	0	MCOLN2	85203879	0.914000	0.31030	0.678000	0.29963	0.663000	0.39108	1.830000	0.39131	0.146000	0.19002	-0.797000	0.03246	CGC		0.413	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		24	244	0	0	0	1	0	24	244				
AAR2	25980	broad.mit.edu	37	20	34843658	34843658	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34843658G>A	ENST00000373932.3	+	4	1492	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Silent_p.E382E	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	382																	AGGGCATCGAGATGGGCTAAC	0.617																																						ENST00000373932.3																			0											c.(1144-1146)gaG>gaA		AAR2 splicing factor homolog (S. cerevisiae)							55.0	59.0	58.0					20																	34843658		2203	4300	6503	SO:0001819	synonymous_variant	25980							g.chr20:34843658G>A		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.1146G>A	20.37:g.34843658G>A						AAR2_ENST00000320849.4_Silent_p.E382E|AAR2_ENST00000397286.3_Intron	p.E382E	NM_015511.3	NP_056326.2					4	1492	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	c.1146G>A	CCDS13273.1																																																																																				0.617	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		9	331	0	0	0	1	0	9	331				
SERAC1	84947	broad.mit.edu	37	6	158579383	158579383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158579383C>T	ENST00000367104.3	-	2	144	c.13G>A	c.(13-15)Gct>Act	p.A5T	SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T|SERAC1_ENST00000367102.2_Missense_Mutation_p.A5T|SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	5					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACGCAATAAGCAGCCAGGGAC	0.378																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(13-15)Gct>Act		serine active site containing 1							104.0	102.0	103.0					6																	158579383		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158579383C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.13G>A	6.37:g.158579383C>T	ENSP00000356071:p.Ala5Thr					SERAC1_ENST00000367104.3_Missense_Mutation_p.A5T|SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T|SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T	p.A5T			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	2	154	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	5					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.13G>A	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884059	0.72410	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.41400	1.0;1.0;1.0	4.79	3.92	0.45320	.	0.217298	0.47852	D	0.000220	T	0.32585	0.0834	M	0.73598	2.24	0.45733	D	0.998636	P	0.49635	0.926	P	0.46917	0.531	T	0.17258	-1.0375	10	0.87932	D	0	-13.9732	7.8583	0.29495	0.1606:0.752:0.0:0.0874	.	5	Q96JX3	SRAC1_HUMAN	T	5	ENSP00000356069:A5T;ENSP00000356071:A5T;ENSP00000356068:A5T	ENSP00000356068:A5T	A	-	1	0	SERAC1	158499371	0.998000	0.40836	0.977000	0.42913	0.996000	0.88848	0.717000	0.25851	-0.016000	0.14127	0.460000	0.39030	GCT		0.378	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		56	279	0	0	0	1	0	56	279				
SMEK1	55671	broad.mit.edu	37	14	91929101	91929101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91929101G>A	ENST00000554943.1	-	12	2066	c.1951C>T	c.(1951-1953)Caa>Taa	p.Q651*	SMEK1_ENST00000554684.1_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	651					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGATTATCTTGCCTTTCTCTT	0.313																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1912-1914)Caa>Taa		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							237.0	238.0	238.0					14																	91929101		2202	4300	6502	SO:0001587	stop_gained	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91929101G>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1951C>T	14.37:g.91929101G>A	ENSP00000450883:p.Gln651*					SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554943.1_Nonsense_Mutation_p.Q651*|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*	p.Q638*			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	12	2408	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	651					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Nonsense_Mutation	SNP	ENST00000554943.1	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.496534	0.99416	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.4584	19.3709	0.94484	0.0:0.0:1.0:0.0	.	.	.	.	X	638;638;412;651;412;638	.	ENSP00000337125:Q638X	Q	-	1	0	SMEK1	90998854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.756000	0.98918	2.576000	0.86940	0.655000	0.94253	CAA		0.313	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		33	365	0	0	0	1	0	33	365				
ABCC4	10257	broad.mit.edu	37	13	95813533	95813533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95813533C>T	ENST00000376887.4	-	19	2479	c.2365G>A	c.(2365-2367)Gtc>Atc	p.V789I	ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	789	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTAACAAGGACGTAGAATACC	0.353																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2365-2367)Gtc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						89.0	88.0	89.0					13																	95813533		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95813533C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2365G>A	13.37:g.95813533C>T	ENSP00000366084:p.Val789Ile					ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I	p.V789I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			19	2479	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		789			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2365G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845818	0.32606	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.45	2.77	0.32553	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.171789	0.51477	N	0.000091	T	0.76630	0.4014	N	0.16266	0.395	0.38575	D	0.950049	B;B;B;B	0.18013	0.001;0.005;0.025;0.006	B;B;B;B	0.20955	0.004;0.002;0.032;0.009	T	0.65001	-0.6274	10	0.06236	T	0.91	.	11.3749	0.49722	0.0:0.8098:0.0:0.1902	.	714;742;789;789	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	742;789;714;789	ENSP00000388657:V742I;ENSP00000366084:V789I;ENSP00000442024:V714I;ENSP00000398562:V789I	ENSP00000366084:V789I	V	-	1	0	ABCC4	94611534	0.917000	0.31117	0.897000	0.35233	0.982000	0.71751	1.786000	0.38694	0.344000	0.23847	0.650000	0.86243	GTC		0.353	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		35	207	0	0	0	1	0	35	207				
SYK	6850	broad.mit.edu	37	9	93606436	93606436	+	Missense_Mutation	SNP	G	G	A	rs201455170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606436G>A	ENST00000375754.4	+	2	404	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Missense_Mutation_p.A86T|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375747.1_Missense_Mutation_p.A86T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	86	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCCAGCCCCGCCGACCTCTG	0.667			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								g|||	2	0.000399361	0.0008	0.0014	5008	,	,		15260	0.0		0.0	False		,,,				2504	0.0					ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(256-258)Gcc>Acc		spleen tyrosine kinase							35.0	33.0	33.0					9																	93606436		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606436G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.256G>A	9.37:g.93606436G>A	ENSP00000364907:p.Ala86Thr					SYK_ENST00000375751.4_Missense_Mutation_p.A86T|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375747.1_Missense_Mutation_p.A86T	p.A86T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			2	404	+			86			SH2 1.			Missense_Mutation	SNP	ENST00000375754.4	37	c.256G>A	CCDS6688.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	19.34	3.808139	0.70797	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.79	4.79	0.61399	SH2 motif (4);	0.115291	0.64402	D	0.000014	D	0.87501	0.6193	N	0.16903	0.455	0.49130	D	0.999752	D;D;D	0.67145	0.992;0.993;0.996	P;P;P	0.56398	0.553;0.681;0.797	D	0.87018	0.2127	10	0.32370	T	0.25	.	18.0426	0.89323	0.0:0.0:1.0:0.0	.	86;86;86	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	T	86	ENSP00000364907:A86T;ENSP00000364904:A86T;ENSP00000364899:A86T;ENSP00000364898:A86T	ENSP00000364898:A86T	A	+	1	0	SYK	92646257	0.996000	0.38824	0.626000	0.29213	0.503000	0.33858	5.814000	0.69208	2.495000	0.84180	0.556000	0.70494	GCC		0.667	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			42	234	0	0	0	1	0	42	234				
CEP164	22897	broad.mit.edu	37	11	117222548	117222548	+	Silent	SNP	C	C	T	rs149281923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(235-237)aaC>aaT		centrosomal protein 164kDa		C		1,4401	2.1+/-5.4	0,1,2200	121.0	108.0	112.0		237	-5.5	0.9	11	dbSNP_134	112	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CEP164	NM_014956.4		0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154		79/1461	117222548	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117222548C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.237C>T	11.37:g.117222548C>T							p.N79N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	5	384	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	79			Interaction with ATRIP.|WW.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.237C>T	CCDS31683.1																																																																																				0.478	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		87	381	0	0	0	1	0	87	381				
RINT1	60561	broad.mit.edu	37	7	105177065	105177065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105177065G>T	ENST00000257700.2	+	3	373	c.142G>T	c.(142-144)Gat>Tat	p.D48Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	48					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAGGTACAGATAATGGTGA	0.338																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(142-144)Gat>Tat		RAD50 interactor 1							192.0	194.0	193.0					7																	105177065		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105177065G>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.142G>T	7.37:g.105177065G>T	ENSP00000257700:p.Asp48Tyr						p.D48Y	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			3	373	+			48					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.142G>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079517	0.55753	.	.	ENSG00000135249	ENST00000257700	T	0.26660	1.72	5.2	3.35	0.38373	.	0.216469	0.45867	D	0.000324	T	0.25457	0.0619	L	0.39898	1.24	0.23266	N	0.998011	D	0.53885	0.963	P	0.45946	0.498	T	0.06356	-1.0831	10	0.59425	D	0.04	-8.8286	11.9528	0.52964	0.1471:0.0:0.8529:0.0	.	48	Q6NUQ1	RINT1_HUMAN	Y	48	ENSP00000257700:D48Y	ENSP00000257700:D48Y	D	+	1	0	RINT1	104964301	1.000000	0.71417	0.024000	0.17045	0.989000	0.77384	4.669000	0.61575	0.545000	0.28902	0.491000	0.48974	GAT		0.338	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		108	499	1	0	8.64887e-64	1	1.09215e-63	108	499				
ZNF626	199777	broad.mit.edu	37	19	20808152	20808152	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20808152T>C	ENST00000601440.1	-	4	677	c.531A>G	c.(529-531)gaA>gaG	p.E177E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTTGCCACATTCTATATATT	0.343																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(529-531)gaA>gaG		zinc finger protein 626							69.0	67.0	67.0					19																	20808152		2067	4246	6313	SO:0001819	synonymous_variant	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808152T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.531A>G	19.37:g.20808152T>C						CTC-513N18.7_ENST00000595094.1_lincRNA	p.E177E	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	677	-			177					Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	c.531A>G	CCDS42535.1																																																																																				0.343	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		50	212	0	0	0	1	0	50	212				
EPS8L1	54869	broad.mit.edu	37	19	55589480	55589480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55589480C>T	ENST00000201647.6	+	3	98	c.42C>T	c.(40-42)agC>agT	p.S14S	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_5'Flank	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	14					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAAAGCCAAGCGCCAAGTCTA	0.577																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(40-42)agC>agT		EPS8-like 1							60.0	55.0	57.0					19																	55589480		2203	4300	6503	SO:0001819	synonymous_variant	54869					cytoplasm		g.chr19:55589480C>T	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.42C>T	19.37:g.55589480C>T						EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron	p.S14S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	3	98	+			14					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	ENST00000201647.6	37	c.42C>T	CCDS12914.1																																																																																				0.577	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		39	183	0	0	0	1	0	39	183				
CCNG2	901	broad.mit.edu	37	4	78086953	78086953	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78086953G>A	ENST00000316355.5	+	8	1267		c.e8-1		CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000395640.1_Splice_Site|CCNG2_ENST00000354403.5_Intron|CCNG2_ENST00000497512.1_Intron	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2						cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCTCTTTAGTGAGGACTCT	0.378																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.e8-1		cyclin G2							84.0	82.0	82.0					4																	78086953		2203	4300	6503	SO:0001630	splice_region_variant	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78086953G>A	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.912-1G>A	4.37:g.78086953G>A						CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000354403.5_Intron|CCNG2_ENST00000395640.1_Splice_Site		NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			8	1267	+								B4DF25|Q6FGA7|Q6FGC6	Splice_Site	SNP	ENST00000316355.5	37		CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794848	0.50102	.	.	ENSG00000138764	ENST00000316355;ENST00000502280;ENST00000395640	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8598	0.86014	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNG2	78305977	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.334000	0.96470	2.407000	0.81776	0.655000	0.94253	.		0.378	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354	Intron	42	205	0	0	0	1	0	42	205				
PCDHA3	56145	broad.mit.edu	37	5	140182308	140182308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140182308C>T	ENST00000522353.2	+	1	1526	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	509	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTACACGCG	0.697																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1525-1527)tCg>tTg									74.0	75.0	75.0					5																	140182308		2203	4299	6502	SO:0001583	missense	0							g.chr5:140182308C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1526C>T	5.37:g.140182308C>T	ENSP00000429808:p.Ser509Leu					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.S509L	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1526	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1526C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	19.17	3.775803	0.70107	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53857	0.6;0.6	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.38663	U	0.001610	T	0.74816	0.3766	M	0.79926	2.475	0.30931	N	0.72689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.77816	-0.2447	10	0.87932	D	0	.	18.1666	0.89729	0.0:1.0:0.0:0.0	.	509;509	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	509	ENSP00000429808:S509L;ENSP00000434086:S509L	ENSP00000429808:S509L	S	+	2	0	PCDHA3	140162492	0.685000	0.27652	0.996000	0.52242	0.848000	0.48234	1.360000	0.34125	2.374000	0.81015	0.461000	0.40582	TCG		0.697	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		170	736	0	0	0	1	0	170	736				
C22orf29	79680	broad.mit.edu	37	22	19839449	19839449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19839449C>T	ENST00000405640.1	-	2	1004	c.336G>A	c.(334-336)tgG>tgA	p.W112*	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|GNB1L_ENST00000329517.6_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	112					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GGTCCAGTAGCCACGGGGAGC	0.622																																						ENST00000405640.1																			0				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(334-336)tgG>tgA		chromosome 22 open reading frame 29							56.0	66.0	63.0					22																	19839449		2203	4300	6503	SO:0001587	stop_gained	79680							g.chr22:19839449C>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.336G>A	22.37:g.19839449C>T	ENSP00000384924:p.Trp112*					C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron	p.W112*			Q7L3V2	CV029_HUMAN			2	1004	-	Colorectal(54;0.0993)		112					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Nonsense_Mutation	SNP	ENST00000405640.1	37	c.336G>A	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193545	0.58017	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	.	.	.	3.35	-0.0897	0.13667	.	0.286677	0.17698	U	0.165025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.2451	0.06794	0.0:0.5045:0.2252:0.2703	.	.	.	.	X	112	.	ENSP00000330596:W112X	W	-	3	0	C22orf29	18219449	0.002000	0.14202	0.080000	0.20451	0.026000	0.11368	0.006000	0.13152	0.059000	0.16252	0.591000	0.81541	TGG		0.622	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		94	452	0	0	0	1	0	94	452				
MAST3	23031	broad.mit.edu	37	19	18249831	18249831	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249831C>T	ENST00000262811.6	+	19	2015	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	672	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACAGCACGTTCGGAACGTTAC	0.597																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2014-2016)tCg>tTg		microtubule associated serine/threonine kinase 3							43.0	48.0	46.0					19																	18249831		2119	4246	6365	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18249831C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2015C>T	19.37:g.18249831C>T	ENSP00000262811:p.Ser672Leu						p.S672L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			19	2015	+			672			AGC-kinase C-terminal.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2015C>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363653	0.61513	.	.	ENSG00000099308	ENST00000262811	T	0.23754	1.89	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.33904	0.0879	M	0.79693	2.465	0.58432	D	0.999999	B	0.10296	0.003	B	0.12837	0.008	T	0.35574	-0.9783	10	0.56958	D	0.05	-12.0036	14.9224	0.70851	0.0:1.0:0.0:0.0	.	672	O60307	MAST3_HUMAN	L	672	ENSP00000262811:S672L	ENSP00000262811:S672L	S	+	2	0	MAST3	18110831	1.000000	0.71417	0.533000	0.28001	0.029000	0.11900	7.713000	0.84693	1.941000	0.56285	0.313000	0.20887	TCG		0.597	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	36	0	0	0	1	0	4	36				
INSL5	10022	broad.mit.edu	37	1	67266800	67266800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67266800C>T	ENST00000304526.2	-	1	139	c.105G>A	c.(103-105)cgG>cgA	p.R35R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	35						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						AGATGACTGTCCGTATGTATT	0.473																																						ENST00000304526.2																			0				breast(2)|endometrium(1)|lung(5)	8						c.(103-105)cgG>cgA		insulin-like 5							117.0	105.0	109.0					1																	67266800		2203	4300	6503	SO:0001819	synonymous_variant	10022					extracellular region	hormone activity	g.chr1:67266800C>T	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.105G>A	1.37:g.67266800C>T							p.R35R	NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN			1	139	-			35					Q3MIY4|Q5VYD8	Silent	SNP	ENST00000304526.2	37	c.105G>A	CCDS634.1																																																																																				0.473	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	NM_005478		10	366	0	0	0	1	0	10	366				
PGLYRP3	114771	broad.mit.edu	37	1	153279722	153279722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153279722C>T	ENST00000290722.1	-	2	129	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	26					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTCCTTGCGGGAGACGAT	0.627																																						ENST00000290722.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(76-78)cGc>cAc		peptidoglycan recognition protein 3							36.0	35.0	35.0					1																	153279722		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153279722C>T	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.77G>A	1.37:g.153279722C>T	ENSP00000290722:p.Arg26His						p.R26H	NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	129	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		26					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.77G>A	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639998	0.47153	.	.	ENSG00000159527	ENST00000290722	T	0.57436	0.4	4.21	3.27	0.37495	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	0.172267	0.25906	N	0.027534	T	0.27205	0.0667	L	0.60455	1.87	0.24925	N	0.991952	P	0.47191	0.891	B	0.36289	0.221	T	0.09079	-1.0691	10	0.87932	D	0	-13.0525	10.0377	0.42139	0.0:0.7946:0.2054:0.0	.	26	Q96LB9	PGRP3_HUMAN	H	26	ENSP00000290722:R26H	ENSP00000290722:R26H	R	-	2	0	PGLYRP3	151546346	0.310000	0.24527	0.967000	0.41034	0.072000	0.16883	1.119000	0.31258	1.086000	0.41228	0.655000	0.94253	CGC		0.627	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		7	79	0	0	0	1	0	7	79				
KIAA1549L	25758	broad.mit.edu	37	11	33564355	33564355	+	Missense_Mutation	SNP	G	G	A	rs374902827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33564355G>A	ENST00000321505.4	+	1	535	c.355G>A	c.(355-357)Gct>Act	p.A119T	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A119T|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A119T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	119						integral component of membrane (GO:0016021)											GACCCATGAGGCTGAGCCTCC	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(355-357)Gct>Act		KIAA1549-like							36.0	38.0	37.0					11																	33564355		1906	4111	6017	SO:0001583	missense	25758							g.chr11:33564355G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.355G>A	11.37:g.33564355G>A	ENSP00000315295:p.Ala119Thr		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A119T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A119T	p.A119T							1	535	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.355G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401602	0.62288	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.4	4.47	0.54385	.	.	.	.	.	T	0.30135	0.0755	N	0.19112	0.55	0.09310	N	1	P;P	0.50156	0.689;0.932	B;P	0.48454	0.186;0.578	T	0.06607	-1.0817	8	0.23302	T	0.38	-2.2273	11.4266	0.50014	0.0:0.0:0.8195:0.1805	.	119;119	E9PAT2;Q6ZVL6-2	.;.	T	119	.	ENSP00000265654:A119T	A	+	1	0	C11orf41	33520931	0.238000	0.23825	0.025000	0.17156	0.780000	0.44128	1.243000	0.32767	1.243000	0.43853	0.561000	0.74099	GCT		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		39	160	0	0	0	1	0	39	160				
ZGRF1	55345	broad.mit.edu	37	4	113538718	113538718	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113538718G>A	ENST00000505019.1	-	6	2605	c.2480C>T	c.(2479-2481)tCt>tTt	p.S827F	C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F|C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		827						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTAAAATAGAAATGGTATT	0.378																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2479-2481)tCt>tTt		chromosome 4 open reading frame 21							84.0	82.0	82.0					4																	113538718		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113538718G>A																												ENST00000505019.1:c.2480C>T	4.37:g.113538718G>A	ENSP00000424737:p.Ser827Phe					C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F|C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F	p.S827F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	2605	-		Ovarian(17;0.156)	827					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.2480C>T		.	.	.	.	.	.	.	.	.	.	G	15.52	2.856696	0.51376	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.86956	-2.19;1.34;0.91	5.98	4.2	0.49525	.	0.378963	0.23192	N	0.050884	D	0.89220	0.6653	M	0.71581	2.175	0.09310	N	1	D;D	0.65815	0.995;0.977	P;P	0.56216	0.705;0.794	T	0.81936	-0.0705	10	0.87932	D	0	-0.832	6.088	0.19978	0.073:0.134:0.6544:0.1386	.	827;827	Q86YA3;G5EA02	CD021_HUMAN;.	F	827;827;796	ENSP00000424737:S827F;ENSP00000309095:S827F;ENSP00000390505:S796F	ENSP00000309095:S827F	S	-	2	0	C4orf21	113758167	0.074000	0.21230	0.099000	0.21106	0.962000	0.63368	1.023000	0.30065	0.798000	0.33994	0.655000	0.94253	TCT		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			49	239	0	0	0	1	0	49	239				
SLC39A12	221074	broad.mit.edu	37	10	18250690	18250690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18250690C>T	ENST00000377369.2	+	3	715	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	SLC39A12_ENST00000377371.3_Silent_p.L148L|SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	148					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACACAGCCTACTGAGCCTCAG	0.393																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(442-444)Ctg>Ttg		solute carrier family 39 (zinc transporter), member 12							82.0	86.0	85.0					10																	18250690		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250690C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.442C>T	10.37:g.18250690C>T						SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000377371.3_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L	p.L148L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			3	715	+			148					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.442C>T	CCDS44362.1																																																																																				0.393	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		64	294	0	0	0	1	0	64	294				
EIF4A3	9775	broad.mit.edu	37	17	78111992	78111992	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78111992G>A	ENST00000269349.3	-	8	1037	c.816C>T	c.(814-816)taC>taT	p.Y272Y		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	272	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCAGTGTGTCGTAGAGGTCAC	0.478																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(814-816)taC>taT		eukaryotic translation initiation factor 4A3							221.0	191.0	201.0					17																	78111992		2203	4300	6503	SO:0001819	synonymous_variant	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78111992G>A	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.816C>T	17.37:g.78111992G>A							p.Y272Y	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		8	1037	-	all_neural(118;0.117)		272			Helicase C-terminal.		Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	c.816C>T	CCDS11767.1																																																																																				0.478	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		118	461	0	0	0	1	0	118	461				
RYR2	6262	broad.mit.edu	37	1	237993907	237993907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237993907G>T	ENST00000366574.2	+	103	15050	c.14733G>T	c.(14731-14733)caG>caT	p.Q4911H	RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4911					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTTTACAGGAGCACAACT	0.458																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14731-14733)caG>caT		ryanodine receptor 2 (cardiac)							181.0	170.0	173.0					1																	237993907		1967	4164	6131	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237993907G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14733G>T	1.37:g.237993907G>T	ENSP00000355533:p.Gln4911His					RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H	p.Q4911H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		103	15050	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4911					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14733G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870785	0.72065	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.09;-4.12	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000011	D	0.93598	0.7956	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	D	0.89771	0.3954	10	0.87932	D	0	-13.8307	19.143	0.93452	0.0:0.0:1.0:0.0	.	4911	Q92736	RYR2_HUMAN	H	4911;4917;4895	ENSP00000355533:Q4911H;ENSP00000353174:Q4917H;ENSP00000443798:Q4895H	ENSP00000353174:Q4917H	Q	+	3	2	RYR2	236060530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.770000	0.47662	2.509000	0.84616	0.561000	0.74099	CAG		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		144	460	1	0	1.72791e-69	1	2.19293e-69	144	460				
SCFD1	23256	broad.mit.edu	37	14	31119778	31119778	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31119778A>G	ENST00000458591.2	+	9	904	c.677A>G	c.(676-678)gAc>gGc	p.D226G	SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G|SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	226					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGAAACTAGACAAGAAACTT	0.294																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(676-678)gAc>gGc		sec1 family domain containing 1							45.0	50.0	49.0					14																	31119778		2203	4292	6495	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31119778A>G	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.677A>G	14.37:g.31119778A>G	ENSP00000390783:p.Asp226Gly					SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G|SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G	p.D226G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	9	904	+	Hepatocellular(127;0.0877)		226					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.677A>G	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383097	0.82792	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000553693;ENST00000396629;ENST00000469043	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.82193	2.58	0.80722	D	1	P;D;D;D	0.89917	0.888;1.0;1.0;1.0	P;D;D;D	0.80764	0.83;0.989;0.994;0.989	D	0.90252	0.4294	10	0.87932	D	0	-12.2595	15.1704	0.72869	1.0:0.0:0.0:0.0	.	167;159;134;226	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	G	226;159;167;41;67;134;81	ENSP00000390783:D226G;ENSP00000443010:D159G;ENSP00000388078:D167G;ENSP00000443537:D41G;ENSP00000452308:D67G;ENSP00000379870:D134G;ENSP00000452448:D81G	ENSP00000309417:D234G	D	+	2	0	SCFD1	30189529	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.600000	0.90860	2.180000	0.69256	0.533000	0.62120	GAC		0.294	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		35	153	0	0	0	1	0	35	153				
RPAP1	26015	broad.mit.edu	37	15	41814074	41814074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814074G>A	ENST00000304330.4	-	21	3016	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V	RPAP1_ENST00000561603.1_Missense_Mutation_p.A967V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	967	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.A967V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGCTGCAGCGCTGCCTGCAG	0.587																																						ENST00000304330.4																			1	Substitution - Missense(1)	p.A967V(1)	NS(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(2899-2901)gCg>gTg		RNA polymerase II associated protein 1							32.0	31.0	31.0					15																	41814074		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41814074G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2900C>T	15.37:g.41814074G>A	ENSP00000306123:p.Ala967Val					RPAP1_ENST00000561603.1_Missense_Mutation_p.A967V	p.A967V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	21	3016	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	967			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.2900C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331785	0.24167	.	.	ENSG00000103932	ENST00000304330	T	0.74632	-0.86	4.88	-0.796	0.10912	.	1.434620	0.04140	N	0.319392	T	0.56529	0.1991	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.42582	-0.9443	10	0.36615	T	0.2	-15.5212	6.4346	0.21817	0.5094:0.1402:0.3504:0.0	.	967	Q9BWH6	RPAP1_HUMAN	V	967	ENSP00000306123:A967V	ENSP00000306123:A967V	A	-	2	0	RPAP1	39601366	0.354000	0.24912	0.000000	0.03702	0.002000	0.02628	2.133000	0.42093	-0.015000	0.14150	-0.259000	0.10710	GCG		0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		48	145	0	0	0	1	0	48	145				
OR5H14	403273	broad.mit.edu	37	3	97868645	97868645	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868645G>T	ENST00000437310.1	+	1	476	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGACCAATGGACTGTGCATC	0.398																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(415-417)gGa>gTa		olfactory receptor, family 5, subfamily H, member 14							109.0	116.0	114.0					3																	97868645		2202	4297	6499	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868645G>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.416G>T	3.37:g.97868645G>T	ENSP00000401706:p.Gly139Val						p.G139V	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	476	+			139					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.416G>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081066	0.08533	.	.	ENSG00000236032	ENST00000437310	T	0.37235	1.21	2.49	0.49	0.16861	GPCR, rhodopsin-like superfamily (1);	0.263956	0.26765	N	0.022614	T	0.22936	0.0554	L	0.37850	1.14	0.09310	N	1	B	0.28178	0.202	B	0.29440	0.102	T	0.15636	-1.0430	10	0.62326	D	0.03	.	3.1544	0.06499	0.2863:0.2291:0.4847:0.0	.	139	A6NHG9	O5H14_HUMAN	V	139	ENSP00000401706:G139V	ENSP00000401706:G139V	G	+	2	0	OR5H14	99351335	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.530000	0.02221	-0.037000	0.13646	-1.098000	0.02139	GGA		0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			12	771	1	0	1.87028e-06	1	1.92935e-06	12	771				
SLC24A3	57419	broad.mit.edu	37	20	19698237	19698237	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:19698237G>A	ENST00000328041.6	+	16	1982	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	595					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTTTGTCACGGTAGGTTGGC	0.522																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e16+1		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							237.0	229.0	231.0					20																	19698237		2203	4300	6503	SO:0001630	splice_region_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19698237G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1785+1G>A	20.37:g.19698237G>A							p.T595_splice	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			16	1982	+			595					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Splice_Site	SNP	ENST00000328041.6	37	c.1785_splice	CCDS13140.1																																																																																				0.522	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	Silent	249	1007	0	0	0	1	0	249	1007				
DNAJB1	3337	broad.mit.edu	37	19	14626848	14626848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14626848C>A	ENST00000254322.2	-	3	997	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	309					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CCCCACGTTTCTCGGGTGTTT	0.507																																						ENST00000254322.2																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16						c.(925-927)gaG>gaT		DnaJ (Hsp40) homolog, subfamily B, member 1							85.0	83.0	84.0					19																	14626848		2203	4300	6503	SO:0001583	missense	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14626848C>A	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.927G>T	19.37:g.14626848C>A	ENSP00000254322:p.Glu309Asp					DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	p.E309D	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	3	997	-			309					B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	c.927G>T	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.523743	0.27299	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.42131	0.98;0.98	4.84	2.64	0.31445	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.304487	0.35067	N	0.003465	T	0.21267	0.0512	N	0.12611	0.24	0.38586	D	0.950306	B	0.02656	0.0	B	0.01281	0.0	T	0.07271	-1.0781	10	0.20046	T	0.44	.	8.377	0.32449	0.1664:0.5109:0.3227:0.0	.	309	P25685	DNJB1_HUMAN	D	309;209	ENSP00000254322:E309D;ENSP00000444212:E209D	ENSP00000254322:E309D	E	-	3	2	DNAJB1	14487848	0.842000	0.29525	0.974000	0.42286	0.969000	0.65631	-0.088000	0.11198	0.441000	0.26529	0.313000	0.20887	GAG		0.507	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		95	397	1	0	7.62712e-44	1	9.32224e-44	95	397				
ZDBF2	57683	broad.mit.edu	37	2	207172773	207172773	+	Missense_Mutation	SNP	G	G	A	rs529263608	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172773G>A	ENST00000374423.3	+	5	3907	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1174							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAGTCAATCGACCTCAAATA	0.373													G|||	3	0.000599042	0.0	0.0	5008	,	,		20144	0.0		0.0	False		,,,				2504	0.0031					ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3520-3522)cGa>cAa		zinc finger, DBF-type containing 2							104.0	101.0	102.0					2																	207172773		1888	4106	5994	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172773G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3521G>A	2.37:g.207172773G>A	ENSP00000363545:p.Arg1174Gln						p.R1174Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3907	+			1174					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3521G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258166	0.10239	.	.	ENSG00000204186	ENST00000374423	T	0.42513	0.97	4.1	0.625	0.17665	.	.	.	.	.	T	0.13628	0.0330	N	0.02247	-0.625	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.28299	-1.0048	9	0.11794	T	0.64	.	3.4928	0.07644	0.4411:0.3476:0.2114:0.0	.	1174	Q9HCK1	ZDBF2_HUMAN	Q	1174	ENSP00000363545:R1174Q	ENSP00000363545:R1174Q	R	+	2	0	ZDBF2	206881018	0.102000	0.21896	0.081000	0.20488	0.046000	0.14306	0.242000	0.18087	0.089000	0.17243	0.650000	0.86243	CGA		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		69	320	0	0	0	1	0	69	320				
MYH6	4624	broad.mit.edu	37	14	23855256	23855256	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23855256G>T	ENST00000356287.3	-	33	5073	c.5044C>A	c.(5044-5046)Ctg>Atg	p.L1682M	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.L1682M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1682					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGCAGCAGGTTGTTGCGC	0.642																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5044-5046)Ctg>Atg		myosin, heavy chain 6, cardiac muscle, alpha							72.0	61.0	65.0					14																	23855256		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855256G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5044C>A	14.37:g.23855256G>T	ENSP00000348634:p.Leu1682Met					MYH6_ENST00000356287.3_Missense_Mutation_p.L1682M	p.L1682M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	34	5114	-	all_cancers(95;2.54e-05)		1682					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5044C>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	19.72	3.879769	0.72294	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82803	-1.65;-1.65	4.2	4.2	0.49525	Myosin tail (1);	.	.	.	.	D	0.90010	0.6881	M	0.82823	2.61	0.47245	D	0.999362	D	0.61080	0.989	D	0.71656	0.974	D	0.90520	0.4488	9	0.59425	D	0.04	.	10.5855	0.45280	0.09:0.0:0.91:0.0	.	1682	P13533	MYH6_HUMAN	M	1682	ENSP00000386041:L1682M;ENSP00000348634:L1682M	ENSP00000348634:L1682M	L	-	1	2	MYH6	22925096	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.145000	0.58065	2.048000	0.60808	0.561000	0.74099	CTG		0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			14	305	1	0	0.00185496	1	0.00187281	14	305				
MCM6	4175	broad.mit.edu	37	2	136610461	136610461	+	Missense_Mutation	SNP	G	G	A	rs564036914		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610461G>A	ENST00000264156.2	-	12	1711	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	551	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCTACTATGCGCCTGGCAATG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18709	0.001		0.0	False		,,,				2504	0.0				Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1651-1653)Cgc>Tgc		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						92.0	86.0	88.0					2																	136610461		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136610461G>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1651C>T	2.37:g.136610461G>A	ENSP00000264156:p.Arg551Cys					MCM6_ENST00000492091.1_Intron	p.R551C	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	12	1711	-			551			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1651C>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650320	0.87958	.	.	ENSG00000076003	ENST00000264156	T	0.06768	3.26	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.05273	-1.0895	10	0.87932	D	0	-9.537	15.9876	0.80174	0.0:0.0:0.8642:0.1358	.	551	Q14566	MCM6_HUMAN	C	551	ENSP00000264156:R551C	ENSP00000264156:R551C	R	-	1	0	MCM6	136326931	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.573000	0.82421	1.405000	0.46838	0.557000	0.71058	CGC		0.363	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		66	196	0	0	0	1	0	66	196				
DHFR	1719	broad.mit.edu	37	5	79924945	79924945	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79924945G>A	ENST00000439211.2	-	6	1018	c.525C>T	c.(523-525)ggC>ggT	p.G175G	CTC-325J23.2_ENST00000514201.1_RNA|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Silent_p.G123G|DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000505337.1_Silent_p.G175G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	175	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTACTTAATGCCTTTCTCCT	0.323																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(523-525)ggC>ggT		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						23.0	21.0	22.0					5																	79924945		1867	4122	5989	SO:0001819	synonymous_variant	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79924945G>A		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.525C>T	5.37:g.79924945G>A						DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000504396.1_Silent_p.G123G|DHFR_ENST00000505337.1_Silent_p.G175G|DHFR_ENST00000513048.1_5'UTR	p.G175G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	6	1018	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	175			DHFR.		B4DDD2|Q14130|Q6IRW8	Silent	SNP	ENST00000439211.2	37	c.525C>T	CCDS47240.1																																																																																				0.323	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		29	100	0	0	0	1	0	29	100				
TCTEX1D4	343521	broad.mit.edu	37	1	45271752	45271752	+	Missense_Mutation	SNP	C	C	T	rs571986288		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271752C>T	ENST00000339355.2	-	1	595	c.589G>A	c.(589-591)Gat>Aat	p.D197N	BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.D197N			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	197						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCCAGCCCATCGCGCGCCACG	0.672																																						ENST00000372200.1																			0				pancreas(1)	1						c.(589-591)Gat>Aat		Tctex1 domain containing 4							16.0	19.0	18.0					1																	45271752		2202	4297	6499	SO:0001583	missense	343521							g.chr1:45271752C>T	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.589G>A	1.37:g.45271752C>T	ENSP00000341803:p.Asp197Asn					TCTEX1D4_ENST00000339355.2_Missense_Mutation_p.D197N	p.D197N	NM_001013632.2	NP_001013654.1	Q5JR98	TC1D4_HUMAN			2	1097	-	Acute lymphoblastic leukemia(166;0.155)		197						Missense_Mutation	SNP	ENST00000339355.2	37	c.589G>A	CCDS30699.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794210	0.70452	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.70399	-0.48;-0.48	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	D	0.88081	0.6341	M	0.93978	3.48	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90925	0.4786	10	0.87932	D	0	-5.9617	15.9529	0.79859	0.0:1.0:0.0:0.0	.	197	Q5JR98	TC1D4_HUMAN	N	197	ENSP00000341803:D197N;ENSP00000361274:D197N	ENSP00000341803:D197N	D	-	1	0	TCTEX1D4	45044339	0.999000	0.42202	0.156000	0.22583	0.084000	0.17831	5.615000	0.67702	2.540000	0.85666	0.555000	0.69702	GAT		0.672	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		11	118	0	0	0	1	0	11	118				
HMCN1	83872	broad.mit.edu	37	1	185969264	185969264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185969264C>T	ENST00000271588.4	+	26	4191	c.3962C>T	c.(3961-3963)aCa>aTa	p.T1321I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1321	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGATGGCACATTGCTGGTT	0.418																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3961-3963)aCa>aTa		hemicentin 1							146.0	133.0	137.0					1																	185969264		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185969264C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3962C>T	1.37:g.185969264C>T	ENSP00000271588:p.Thr1321Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	p.T1321I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			26	4191	+			1321			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3962C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316399	0.23908	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.46	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.313688	0.37715	N	0.001972	T	0.59838	0.2223	L	0.51422	1.61	0.09310	N	1	P	0.37594	0.601	B	0.39876	0.312	T	0.47812	-0.9088	10	0.24483	T	0.36	.	11.1561	0.48489	0.0:0.6935:0.2396:0.0669	.	1321	Q96RW7	HMCN1_HUMAN	I	1321	ENSP00000271588:T1321I;ENSP00000356462:T1321I	ENSP00000271588:T1321I	T	+	2	0	HMCN1	184235887	0.056000	0.20664	0.074000	0.20217	0.277000	0.26821	2.903000	0.48711	0.635000	0.30488	0.558000	0.71614	ACA		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		65	244	0	0	0	1	0	65	244				
CUL9	23113	broad.mit.edu	37	6	43182887	43182887	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43182887C>T	ENST00000252050.4	+	30	5843	c.5759C>T	c.(5758-5760)gCc>gTc	p.A1920V	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1920					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						GGGGGTGTGGCCTGTACCAGT	0.577																																						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.(5758-5760)gCc>gTc		cullin 9							104.0	105.0	104.0					6																	43182887		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.chr6:43182887C>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.5759C>T	6.37:g.43182887C>T	ENSP00000252050:p.Ala1920Val					CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|RP3-330M21.5_ENST00000500590.1_RNA	p.A1920V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			30	5843	+			1920					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5759C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818911	0.50633	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73152	-0.72;-0.72;-0.62	5.11	3.22	0.36961	Cullin protein, neddylation domain (1);	0.807022	0.11802	N	0.528084	T	0.44603	0.1301	L	0.43152	1.355	0.29803	N	0.832275	P;B;B	0.45827	0.867;0.09;0.079	B;B;B	0.39027	0.288;0.028;0.021	T	0.42932	-0.9422	10	0.72032	D	0.01	-8.4531	6.4064	0.21666	0.0:0.5913:0.304:0.1047	.	1810;1892;1920	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	V	1920;1810;1892	ENSP00000252050:A1920V;ENSP00000346490:A1810V;ENSP00000361730:A1892V	ENSP00000252050:A1920V	A	+	2	0	CUL9	43290865	0.910000	0.30920	0.999000	0.59377	0.733000	0.41908	0.174000	0.16743	2.377000	0.81083	0.655000	0.94253	GCC		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		138	580	0	0	0	1	0	138	580				
THAP9	79725	broad.mit.edu	37	4	83838940	83838940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83838940C>A	ENST00000302236.5	+	5	1626	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	525					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.N525K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATAGTAGGAACTGTTATGGAA	0.338																																						ENST00000302236.5																			1	Substitution - Missense(1)	p.N525K(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(1573-1575)aaC>aaA		THAP domain containing 9							106.0	111.0	109.0					4																	83838940		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83838940C>A	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1575C>A	4.37:g.83838940C>A	ENSP00000305533:p.Asn525Lys					LIN54_ENST00000505905.1_Intron	p.N525K	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	1626	+		Hepatocellular(203;0.114)	525					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.1575C>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616179	0.14129	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.91011	-2.77	3.87	3.02	0.34903	.	0.362319	0.24052	N	0.041995	D	0.84964	0.5589	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	B	0.37989	0.262	T	0.81258	-0.1014	10	0.12103	T	0.63	-25.1457	9.742	0.40424	0.0:0.9011:0.0:0.0989	.	525	Q9H5L6	THAP9_HUMAN	K	525	ENSP00000305533:N525K	ENSP00000305533:N525K	N	+	3	2	THAP9	84057964	0.717000	0.27966	0.926000	0.36857	0.021000	0.10359	0.538000	0.23160	1.214000	0.43395	-0.140000	0.14226	AAC		0.338	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		106	518	1	0	1.32035e-51	1	1.6395e-51	106	518				
OR52B6	340980	broad.mit.edu	37	11	5602224	5602224	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602224C>T	ENST00000345043.2	+	1	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(118-120)Ctg>Ttg		olfactory receptor, family 52, subfamily B, member 6							100.0	101.0	101.0					11																	5602224		2155	4271	6426	SO:0001819	synonymous_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602224C>T	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.118C>T	11.37:g.5602224C>T						HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.L40L	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	118	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	40					Q6IFI7	Silent	SNP	ENST00000345043.2	37	c.118C>T	CCDS41611.1																																																																																				0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		55	259	0	0	0	1	0	55	259				
DLGAP1	9229	broad.mit.edu	37	18	3581922	3581922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581922C>A	ENST00000315677.3	-	8	2511	c.1916G>T	c.(1915-1917)aGg>aTg	p.R639M	DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	639					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTCCTTCTTCCTGTCCTCCgt	0.493																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(1915-1917)aGg>aTg		discs, large (Drosophila) homolog-associated protein 1							133.0	113.0	120.0					18																	3581922		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3581922C>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1916G>T	18.37:g.3581922C>A	ENSP00000316377:p.Arg639Met					DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M	p.R639M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			8	2511	-		Colorectal(8;0.0257)	639					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.1916G>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992460	0.35131	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.12255	2.71;2.71;2.7;2.71;2.7;2.71;2.71;2.7;2.71	5.41	5.41	0.78517	.	0.275715	0.41712	D	0.000840	T	0.24005	0.0581	L	0.34521	1.04	0.41063	D	0.985393	P;P;P;P;P;P;P;P	0.49696	0.882;0.927;0.923;0.882;0.923;0.856;0.923;0.905	P;P;P;P;P;B;P;P	0.56343	0.477;0.579;0.722;0.477;0.796;0.346;0.796;0.693	T	0.00662	-1.1621	10	0.34782	T	0.22	-26.0939	19.2071	0.93736	0.0:1.0:0.0:0.0	.	639;323;335;345;347;337;639;337	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	M	639;337;355;329;345;323;347;337;639	ENSP00000316377:R639M;ENSP00000383011:R337M;ENSP00000383014:R355M;ENSP00000383013:R329M;ENSP00000383019:R345M;ENSP00000437817:R323M;ENSP00000446312:R347M;ENSP00000383010:R337M;ENSP00000445973:R639M	ENSP00000316377:R639M	R	-	2	0	DLGAP1	3571922	0.987000	0.35691	1.000000	0.80357	0.969000	0.65631	1.747000	0.38298	2.520000	0.84964	0.563000	0.77884	AGG		0.493	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			114	456	1	0	1.54984e-59	1	1.94674e-59	114	456				
INSRR	3645	broad.mit.edu	37	1	156813243	156813243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156813243G>T	ENST00000368195.3	-	16	3268	c.2872C>A	c.(2872-2874)Cca>Aca	p.P958T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	958					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGTACTCTGGATTCACAGAA	0.537																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2872-2874)Cca>Aca		insulin receptor-related receptor							162.0	167.0	165.0					1																	156813243		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156813243G>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2872C>A	1.37:g.156813243G>T	ENSP00000357178:p.Pro958Thr					NTRK1_ENST00000392302.2_Intron	p.P958T	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			16	3268	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		958					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.2872C>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524442	0.85600	.	.	ENSG00000027644	ENST00000368195	D	0.88975	-2.45	5.12	5.12	0.69794	.	0.000000	0.46758	D	0.000275	D	0.93654	0.7973	.	.	.	0.58432	D	0.999997	D	0.71674	0.998	D	0.74348	0.983	D	0.94153	0.7407	9	0.87932	D	0	.	16.0824	0.81014	0.0:0.0:1.0:0.0	.	958	P14616	INSRR_HUMAN	T	958	ENSP00000357178:P958T	ENSP00000357178:P958T	P	-	1	0	INSRR	155079867	1.000000	0.71417	0.880000	0.34516	0.970000	0.65996	6.042000	0.70996	2.649000	0.89929	0.591000	0.81541	CCA		0.537	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		196	984	1	0	3.38734e-80	1	4.33149e-80	196	984				
PIK3C2A	5286	broad.mit.edu	37	11	17156420	17156420	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17156420T>C	ENST00000265970.7	-	10	2053	c.2054A>G	c.(2053-2055)cAg>cGg	p.Q685R	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	685	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						AAACTGGAGCTGCTCTGTTGT	0.428																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2053-2055)cAg>cGg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						139.0	140.0	140.0					11																	17156420		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17156420T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2054A>G	11.37:g.17156420T>C	ENSP00000265970:p.Gln685Arg					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R	p.Q685R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			10	2053	-			685					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2054A>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925415	0.52759	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.62364	0.03;0.4	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.155014	0.56097	D	0.000027	T	0.51534	0.1680	L	0.40543	1.245	0.32711	N	0.511585	B	0.29716	0.255	B	0.27262	0.078	T	0.57093	-0.7870	10	0.11794	T	0.64	-0.5823	15.8332	0.78773	0.0:0.0:0.0:1.0	.	685	O00443	P3C2A_HUMAN	R	685;305	ENSP00000265970:Q685R;ENSP00000438687:Q305R	ENSP00000265970:Q685R	Q	-	2	0	PIK3C2A	17112996	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.733000	0.74796	2.153000	0.67306	0.477000	0.44152	CAG		0.428	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		106	436	0	0	0	1	0	106	436				
CDH22	64405	broad.mit.edu	37	20	44803650	44803650	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44803650T>C	ENST00000372262.3	-	11	2382	c.1982A>G	c.(1981-1983)gAa>gGa	p.E661G	CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	661					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCGCATGTCTTCATCCTCGTC	0.627																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1981-1983)gAa>gGa		cadherin 22, type 2							46.0	47.0	47.0					20																	44803650		2159	4261	6420	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803650T>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1982A>G	20.37:g.44803650T>C	ENSP00000361336:p.Glu661Gly					CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	p.E661G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			11	2382	-		Myeloproliferative disorder(115;0.0122)	661					B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1982A>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132480	0.77662	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.79352	-1.26;-1.26	4.03	4.03	0.46877	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.71296	2.17	0.44261	D	0.997118	D	0.89917	1.0	D	0.91635	0.999	D	0.87302	0.2306	10	0.87932	D	0	.	11.9296	0.52839	0.0:0.0:0.0:1.0	.	661	Q9UJ99	CAD22_HUMAN	G	661	ENSP00000361336:E661G;ENSP00000437790:E661G	ENSP00000361336:E661G	E	-	2	0	CDH22	44237057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.020000	0.57189	1.691000	0.51100	0.460000	0.39030	GAA		0.627	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		50	266	0	0	0	1	0	50	266				
KCNG2	26251	broad.mit.edu	37	18	77659147	77659147	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659147C>T	ENST00000316249.3	+	2	732	c.732C>T	c.(730-732)tgC>tgT	p.C244C	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	244					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGAGCAAGTGCGCCTTCCTGC	0.677																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(730-732)tgC>tgT		potassium voltage-gated channel, subfamily G, member 2							50.0	43.0	45.0					18																	77659147		2202	4300	6502	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659147C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.732C>T	18.37:g.77659147C>T						KCNG2_ENST00000590307.1_3'UTR	p.C244C	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	732	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	244						Silent	SNP	ENST00000316249.3	37	c.732C>T	CCDS12019.1																																																																																				0.677	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		20	111	0	0	0	1	0	20	111				
GALNT7	51809	broad.mit.edu	37	4	174169569	174169569	+	Missense_Mutation	SNP	G	G	A	rs79967711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174169569G>A	ENST00000265000.4	+	2	648	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	GALNT7_ENST00000512285.1_Missense_Mutation_p.V189I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	189					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGACCGCAGCGTCAATGACTT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		20714	0.001		0.0	False		,,,				2504	0.0					ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(565-567)Gtc>Atc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)		G	ILE/VAL	0,4406		0,0,2203	77.0	74.0	75.0		565	0.6	1.0	4	dbSNP_131	75	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GALNT7	NM_017423.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	189/658	174169569	1,13005	2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174169569G>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.565G>A	4.37:g.174169569G>A	ENSP00000265000:p.Val189Ile					GALNT7_ENST00000512285.1_Missense_Mutation_p.V189I	p.V189I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	2	648	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	189					B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.565G>A	CCDS3815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.741	-0.262254	0.05791	0.0	1.16E-4	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.58940	0.3;0.3	5.93	0.628	0.17681	.	0.330029	0.35040	N	0.003483	T	0.28632	0.0709	N	0.05259	-0.085	0.47407	D	0.999412	B	0.09022	0.002	B	0.04013	0.001	T	0.08330	-1.0727	10	0.10111	T	0.7	.	9.7357	0.40386	0.5395:0.0:0.4605:0.0	.	189	Q86SF2	GALT7_HUMAN	I	189	ENSP00000265000:V189I;ENSP00000427050:V189I	ENSP00000265000:V189I	V	+	1	0	GALNT7	174406144	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	1.925000	0.40074	0.139000	0.18822	-0.140000	0.14226	GTC		0.398	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		8	390	0	0	0	1	0	8	390				
TMEM159	57146	broad.mit.edu	37	16	21181905	21181905	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21181905C>A	ENST00000233047.4	+	3	712	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572258.1_Missense_Mutation_p.L82M|TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M			Q96B96	TM159_HUMAN	transmembrane protein 159	82						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGCTGCTCTGCTGGGGGTCAT	0.458																																						ENST00000233047.4																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(244-246)Ctg>Atg		transmembrane protein 159							188.0	154.0	166.0					16																	21181905		2200	4300	6500	SO:0001583	missense	57146					integral to membrane		g.chr16:21181905C>A	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.244C>A	16.37:g.21181905C>A	ENSP00000233047:p.Leu82Met					TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000572258.1_Missense_Mutation_p.L82M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M	p.L82M			Q96B96	TM159_HUMAN		GBM - Glioblastoma multiforme(48;0.0972)	3	712	+			82					A6NMA9|B4DEC1|O00323	Missense_Mutation	SNP	ENST00000233047.4	37	c.244C>A	CCDS10595.1	.	.	.	.	.	.	.	.	.	.	C	5.328	0.245831	0.10077	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.18810	2.19;2.19;2.19	5.48	0.112	0.14623	.	0.453294	0.21551	N	0.072728	T	0.07954	0.0199	N	0.11255	0.115	0.25155	N	0.990391	B;B	0.22003	0.053;0.063	B;B	0.20955	0.032;0.013	T	0.19031	-1.0318	10	0.36615	T	0.2	-4.6191	1.3316	0.02136	0.2386:0.2792:0.3437:0.1385	.	106;82	B4DEC1;Q96B96	.;TM159_HUMAN	M	82;82;106	ENSP00000233047:L82M;ENSP00000261388:L82M;ENSP00000409879:L106M	ENSP00000233047:L82M	L	+	1	2	TMEM159	21089406	0.966000	0.33281	0.822000	0.32727	0.061000	0.15899	0.354000	0.20146	0.026000	0.15269	-0.147000	0.13772	CTG		0.458	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422		134	455	1	0	4.09057e-56	1	5.11717e-56	134	455				
NLRP4	147945	broad.mit.edu	37	19	56369008	56369008	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56369008G>A	ENST00000301295.6	+	3	702				NLRP4_ENST00000587891.1_Nonsense_Mutation_p.W8*|NLRP4_ENST00000346986.5_Intron	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACTTTGTGGGTTTTCTCTC	0.473																																						ENST00000587891.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(22-24)tgG>tgA		NLR family, pyrin domain containing 4							57.0	57.0	57.0					19																	56369008		2203	4300	6503	SO:0001627	intron_variant	147945						ATP binding	g.chr19:56369008G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.281-32G>A	19.37:g.56369008G>A						NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000301295.6_Intron	p.W8*			Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	1	198	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	0			DAPIN.		Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	c.24G>A	CCDS12936.1																																																																																				0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		35	190	0	0	0	1	0	35	190				
HOXA5	3202	broad.mit.edu	37	7	27182814	27182814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27182814C>A	ENST00000222726.3	-	1	473	c.413G>T	c.(412-414)aGc>aTc	p.S138I	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA6_ENST00000521478.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	138					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCTCTGCTGCTGATGTGGGT	0.746																																					Colon(119;75 2200 7557 42868)	ENST00000222726.3																			0				central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(412-414)aGc>aTc		homeobox A5							22.0	28.0	26.0					7																	27182814		2189	4288	6477	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182814C>A		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.413G>T	7.37:g.27182814C>A	ENSP00000222726:p.Ser138Ile					HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	p.S138I	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN			1	473	-			138					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.413G>T	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921704	0.17982	.	.	ENSG00000106004	ENST00000222726	D	0.92249	-3.0	4.21	2.41	0.29592	.	0.134181	0.64402	D	0.000003	D	0.82981	0.5155	N	0.21448	0.665	0.31152	N	0.705393	B	0.02656	0.0	B	0.04013	0.001	T	0.74987	-0.3476	10	0.30854	T	0.27	.	6.9164	0.24361	0.1432:0.7032:0.0:0.1537	.	138	P20719	HXA5_HUMAN	I	138	ENSP00000222726:S138I	ENSP00000222726:S138I	S	-	2	0	HOXA5	27149339	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.840000	0.39230	0.726000	0.32339	0.591000	0.81541	AGC		0.746	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			79	377	1	0	9.04243e-43	1	1.10195e-42	79	377				
SSPO	23145	broad.mit.edu	37	7	149482714	149482714	+	RNA	SNP	G	G	T	rs369722117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149482714G>T	ENST00000378016.2	+	0	3130							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCGAGAGGCCAGTGGCCT	0.637																																						ENST00000378016.2																			0													SCO-spondin							21.0	26.0	24.0					7																	149482714		2074	4201	6275			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482714G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482714G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3130	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				10	54	1	0	7.48243e-07	1	7.73841e-07	10	54				
GPR182	11318	broad.mit.edu	37	12	57389519	57389519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389519G>T	ENST00000300098.1	+	2	745	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	176					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CATGTGTGCAGGCATCTGGGT	0.642																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(526-528)Ggc>Tgc		G protein-coupled receptor 182							74.0	64.0	67.0					12																	57389519		2203	4300	6503	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389519G>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.526G>T	12.37:g.57389519G>T	ENSP00000300098:p.Gly176Cys						p.G176C	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	745	+			176						Missense_Mutation	SNP	ENST00000300098.1	37	c.526G>T	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	g	8.415	0.844990	0.16963	.	.	ENSG00000166856	ENST00000300098	T	0.39056	1.1	4.44	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.249082	0.38492	N	0.001661	T	0.37433	0.1003	L	0.54323	1.7	0.28950	N	0.890447	P	0.39326	0.668	B	0.42882	0.401	T	0.26018	-1.0115	10	0.48119	T	0.1	.	6.053	0.19796	0.1801:0.1574:0.6625:0.0	.	176	O15218	GP182_HUMAN	C	176	ENSP00000300098:G176C	ENSP00000300098:G176C	G	+	1	0	GPR182	55675786	0.999000	0.42202	0.031000	0.17742	0.034000	0.12701	3.007000	0.49536	0.235000	0.21160	-0.217000	0.12591	GGC		0.642	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		18	341	1	0	3.32936e-07	1	3.45006e-07	18	341				
E2F4	1874	broad.mit.edu	37	16	67228615	67228615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67228615G>T	ENST00000379378.3	+	6	599	c.540G>T	c.(538-540)caG>caT	p.Q180H	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	180	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		AGAAGTACCAGATTCACCTGA	0.562																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(538-540)caG>caT		E2F transcription factor 4, p107/p130-binding							106.0	102.0	103.0					16																	67228615		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67228615G>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.540G>T	16.37:g.67228615G>T	ENSP00000368686:p.Gln180His					E2F4_ENST00000564718.1_3'UTR	p.Q180H	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	6	599	+		Ovarian(137;0.0563)	180			Dimerization (Potential).		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.540G>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494055	0.44352	.	.	ENSG00000205250	ENST00000379378	D	0.87029	-2.2	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.85859	2.78	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.94264	0.7505	10	0.87932	D	0	-16.4072	13.4026	0.60891	0.0762:0.0:0.9238:0.0	.	180	Q16254	E2F4_HUMAN	H	180	ENSP00000368686:Q180H	ENSP00000368686:Q180H	Q	+	3	2	E2F4	65786116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.547000	0.53663	1.424000	0.47217	0.655000	0.94253	CAG		0.562	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		67	298	1	0	6.25564e-26	1	7.19412e-26	67	298				
SLIT1	6585	broad.mit.edu	37	10	98816148	98816148	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98816148A>G	ENST00000266058.4	-	13	1476	c.1231T>C	c.(1231-1233)Tcc>Ccc	p.S411P	SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	411					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATACAGGGAGAGCAGTGAG	0.582																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1231-1233)Tcc>Ccc		slit homolog 1 (Drosophila)							169.0	166.0	167.0					10																	98816148		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98816148A>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1231T>C	10.37:g.98816148A>G	ENSP00000266058:p.Ser411Pro					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P	p.S411P	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	13	1476	-		Colorectal(252;0.162)	411					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1231T>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	a	28.3	4.904775	0.92035	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.54279	1.76;1.76;0.58	5.09	5.09	0.68999	.	0.057785	0.64402	D	0.000001	T	0.76615	0.4012	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82024	-0.0662	10	0.87932	D	0	.	15.0201	0.71624	1.0:0.0:0.0:0.0	.	421;411	E7EWQ8;O75093	.;SLIT1_HUMAN	P	411;421;411;404	ENSP00000266058:S411P;ENSP00000360109:S411P;ENSP00000315005:S404P	ENSP00000266058:S411P	S	-	1	0	SLIT1	98806138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.080000	0.94040	2.129000	0.65627	0.454000	0.30748	TCC		0.582	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		127	637	0	0	0	1	0	127	637				
AGPAT1	10554	broad.mit.edu	37	6	32137097	32137097	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32137097G>A	ENST00000395499.1	-	7	1387	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R270W			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	270					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CCACCACCCCGGCCATCAGTG	0.612																																						ENST00000395499.1																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(808-810)Cgg>Tgg		1-acylglycerol-3-phosphate O-acyltransferase 1							99.0	97.0	98.0					6																	32137097		1510	2709	4219	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32137097G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.808C>T	6.37:g.32137097G>A	ENSP00000378877:p.Arg270Trp					AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R270W|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W|AGPAT1_ENST00000490711.1_5'UTR	p.R270W			Q99943	PLCA_HUMAN			7	1387	-			270					A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.808C>T	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880842	0.51801	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465	D;D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.6	1.37	0.22104	.	0.564260	0.17429	N	0.174560	T	0.80003	0.4544	L	0.29908	0.895	0.29476	N	0.856724	P;D;P	0.56287	0.623;0.975;0.857	B;B;B	0.37422	0.165;0.249;0.165	T	0.72571	-0.4253	10	0.72032	D	0.01	-8.6565	12.9503	0.58397	0.0:0.0:0.3832:0.6168	.	234;160;270	B4DRH1;B3KPH3;Q99943	.;.;PLCA_HUMAN	W	270;270;270;270;270;270;158	ENSP00000378874:R270W;ENSP00000364248:R270W;ENSP00000378877:R270W;ENSP00000364245:R270W;ENSP00000378875:R270W;ENSP00000337463:R270W;ENSP00000410473:R158W	ENSP00000337463:R270W	R	-	1	2	AGPAT1	32245075	.	.	1.000000	0.80357	0.996000	0.88848	.	.	0.210000	0.20664	0.561000	0.74099	CGG		0.612	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		8	473	0	0	0	1	0	8	473				
NAV3	89795	broad.mit.edu	37	12	78531042	78531042	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531042C>T	ENST00000397909.2	+	19	4700	c.4527C>T	c.(4525-4527)ttC>ttT	p.F1509F	NAV3_ENST00000536525.2_Silent_p.F1509F|NAV3_ENST00000228327.6_Silent_p.F1509F|NAV3_ENST00000266692.7_Silent_p.F1332F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1509	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTCTTCCTTCGATCTCTATG	0.502										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4525-4527)ttC>ttT		neuron navigator 3							100.0	100.0	100.0					12																	78531042		1923	4135	6058	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78531042C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4527C>T	12.37:g.78531042C>T		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Silent_p.F1332F|NAV3_ENST00000228327.6_Silent_p.F1509F|NAV3_ENST00000536525.2_Silent_p.F1509F	p.F1509F			Q8IVL0	NAV3_HUMAN			19	4700	+			1509			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.4527C>T		.	.	.	.	.	.	.	.	.	.	C	10.22	1.288995	0.23478	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.87	-3.38	0.04883	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.853	13.9713	0.64242	0.0:0.2815:0.0:0.7185	.	.	.	.	X	404	.	.	R	+	1	2	NAV3	77055173	0.421000	0.25465	0.972000	0.41901	0.953000	0.61014	-0.289000	0.08365	-0.538000	0.06281	-0.224000	0.12420	CGA		0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		71	346	0	0	0	1	0	71	346				
SYCP2	10388	broad.mit.edu	37	20	58457164	58457164	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58457164A>C	ENST00000357552.3	-	27	2811	c.2586T>G	c.(2584-2586)acT>acG	p.T862T	SYCP2_ENST00000371001.2_Silent_p.T862T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	862					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGCATTCAGAAGTAACATTAA	0.289																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2584-2586)acT>acG		synaptonemal complex protein 2							74.0	74.0	74.0					20																	58457164		2198	4296	6494	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58457164A>C	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2586T>G	20.37:g.58457164A>C						SYCP2_ENST00000371001.2_Silent_p.T862T	p.T862T			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		27	2811	-	all_lung(29;0.00344)		862					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.2586T>G	CCDS13482.1																																																																																				0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	165	0	0	0	1	0	10	165				
MST1R	4486	broad.mit.edu	37	3	49934771	49934771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49934771G>A	ENST00000296474.3	-	7	2152	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	MST1R_ENST00000344206.4_Silent_p.L709L|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	709	IPT/TIG 2.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTACAGACAGACTCTGGCCT	0.592																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(2125-2127)Ctg>Ttg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							75.0	70.0	72.0					3																	49934771		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49934771G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2125C>T	3.37:g.49934771G>A						MST1R_ENST00000344206.4_Silent_p.L709L	p.L709L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	7	2152	-			709			IPT/TIG 2.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.2125C>T	CCDS2807.1																																																																																				0.592	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			61	310	0	0	0	1	0	61	310				
THOP1	7064	broad.mit.edu	37	19	2794884	2794884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2794884G>A	ENST00000307741.6	+	3	555	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	118					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGGACGTGTACCAGAG	0.617																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(352-354)Gtg>Atg		thimet oligopeptidase 1							112.0	89.0	96.0					19																	2794884		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2794884G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.352G>A	19.37:g.2794884G>A	ENSP00000304467:p.Val118Met						p.V118M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	555	+			118					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.352G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504213	0.85176	.	.	ENSG00000172009	ENST00000307741	T	0.08634	3.07	5.12	5.12	0.69794	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.32771	-0.9894	10	0.87932	D	0	-61.0448	17.1204	0.86700	0.0:0.0:1.0:0.0	.	118	P52888	THOP1_HUMAN	M	118	ENSP00000304467:V118M	ENSP00000304467:V118M	V	+	1	0	THOP1	2745884	1.000000	0.71417	0.991000	0.47740	0.777000	0.43975	9.003000	0.93577	2.382000	0.81193	0.462000	0.41574	GTG		0.617	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			96	375	0	0	0	1	0	96	375				
FRMPD1	22844	broad.mit.edu	37	9	37745576	37745576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37745576G>T	ENST00000539465.1	+	16	4140	c.3547G>T	c.(3547-3549)Gga>Tga	p.G1183*	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1183						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGACCCTCAAGGACAGAGCAG	0.493																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3547-3549)Gga>Tga		FERM and PDZ domain containing 1							58.0	62.0	61.0					9																	37745576		2203	4300	6503	SO:0001587	stop_gained	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745576G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3547G>T	9.37:g.37745576G>T	ENSP00000444411:p.Gly1183*					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*	p.G1183*			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4140	+			1183					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Nonsense_Mutation	SNP	ENST00000539465.1	37	c.3547G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	43	10.015053	0.99318	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	5.33	4.44	0.53790	.	1.221790	0.05564	N	0.569825	.	.	.	.	.	.	0.24819	N	0.992599	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.0487	9.9312	0.41523	0.0939:0.0:0.9061:0.0	.	.	.	.	X	1183	.	ENSP00000366995:G1183X	G	+	1	0	FRMPD1	37735576	0.001000	0.12720	0.007000	0.13788	0.137000	0.21094	0.888000	0.28268	1.257000	0.44085	0.561000	0.74099	GGA		0.493	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		57	327	1	0	4.96213e-28	1	5.76155e-28	57	327				
DPH5	51611	broad.mit.edu	37	1	101456141	101456141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101456141G>A	ENST00000370109.3	-	8	793	c.681C>T	c.(679-681)gcC>gcT	p.A227A	AC093157.1_ENST00000593496.1_Silent_p.S45S|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000488176.1_Silent_p.A227A|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	227					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCTGGTCGTCGGCTCCAACCC	0.448																																						ENST00000593496.1																			0											c.(133-135)tcG>tcA									93.0	91.0	92.0					1																	101456141		1972	4145	6117	SO:0001819	synonymous_variant	0							g.chr1:101456141G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.681C>T	1.37:g.101456141G>A						DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000488176.1_Silent_p.A227A|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000370109.3_Silent_p.A227A	p.S45S							1	381	+								A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.135G>A	CCDS41358.1																																																																																				0.448	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		53	229	0	0	0	1	0	53	229				
NPC1	4864	broad.mit.edu	37	18	21148813	21148813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21148813T>C	ENST00000269228.5	-	4	991	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	146					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCGACGTAGTATTGTAACTC	0.378																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(436-438)tAc>tGc		Niemann-Pick disease, type C1							174.0	159.0	164.0					18																	21148813		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21148813T>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.437A>G	18.37:g.21148813T>C	ENSP00000269228:p.Tyr146Cys					NPC1_ENST00000540608.1_5'UTR	p.Y146C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			4	991	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		146					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.437A>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444146	0.63067	.	.	ENSG00000141458	ENST00000269228	D	0.91295	-2.82	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82630	2.6	0.80722	D	1	P	0.40619	0.724	P	0.45195	0.473	D	0.93099	0.6507	10	0.52906	T	0.07	-33.6711	16.3798	0.83452	0.0:0.0:0.0:1.0	.	146	O15118	NPC1_HUMAN	C	146	ENSP00000269228:Y146C	ENSP00000269228:Y146C	Y	-	2	0	NPC1	19402811	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.846000	0.86887	2.271000	0.75665	0.533000	0.62120	TAC		0.378	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		53	313	0	0	0	1	0	53	313				
FAM175A	84142	broad.mit.edu	37	4	84390218	84390218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390218G>A	ENST00000321945.7	-	6	671	c.563C>T	c.(562-564)tCc>tTc	p.S188F	FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	188					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AAAACCAGTGGACATACAGGA	0.363																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(562-564)tCc>tTc		family with sequence similarity 175, member A							124.0	131.0	128.0					4																	84390218		2203	4300	6503	SO:0001583	missense	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84390218G>A	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.563C>T	4.37:g.84390218G>A	ENSP00000369857:p.Ser188Phe					FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR	p.S188F	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			6	671	-			188					A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	c.563C>T	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663703	0.67700	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.45668	0.89;0.89	5.38	4.51	0.55191	.	0.050360	0.85682	D	0.000000	T	0.64000	0.2559	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68349	-0.5432	10	0.87932	D	0	-13.6146	16.1534	0.81640	0.0:0.1331:0.8669:0.0	.	188	Q6UWZ7	F175A_HUMAN	F	188;139	ENSP00000369857:S188F;ENSP00000426763:S139F	ENSP00000369857:S188F	S	-	2	0	FAM175A	84609242	1.000000	0.71417	0.056000	0.19401	0.841000	0.47740	7.142000	0.77339	2.518000	0.84900	0.555000	0.69702	TCC		0.363	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		141	524	0	0	0	1	0	141	524				
EPHA7	2045	broad.mit.edu	37	6	93967929	93967929	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:93967929G>A	ENST00000369303.4	-	11	2182	c.1998C>T	c.(1996-1998)acC>acT	p.T666T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAACTTTCAGGGTTTTTATGG	0.448																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1996-1998)acC>acT		EPH receptor A7							129.0	133.0	132.0					6																	93967929		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93967929G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1998C>T	6.37:g.93967929G>A							p.T666T	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	11	2182	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	666			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.1998C>T	CCDS5031.1																																																																																				0.448	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			131	505	0	0	0	1	0	131	505				
NACC1	112939	broad.mit.edu	37	19	13246051	13246051	+	Silent	SNP	G	G	A	rs376533294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246051G>A	ENST00000292431.4	+	2	156	c.30G>A	c.(28-30)ccG>ccA	p.P10P	AC005546.2_ENST00000591837.1_lincRNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	10					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGAGATCCCGAACTTCGGCA	0.622																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(28-30)ccG>ccA		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							44.0	39.0	41.0					19																	13246051		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246051G>A	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.30G>A	19.37:g.13246051G>A							p.P10P	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	156	+			10						Silent	SNP	ENST00000292431.4	37	c.30G>A	CCDS12294.1																																																																																				0.622	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		40	188	0	0	0	1	0	40	188				
ZNF398	57541	broad.mit.edu	37	7	148851380	148851380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851380G>T	ENST00000475153.1	+	2	635	c.368G>T	c.(367-369)aGg>aTg	p.R123M	ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	123					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTGCGCAACAGGAACTTCTGG	0.537																																						ENST00000475153.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(367-369)aGg>aTg		zinc finger protein 398							52.0	56.0	54.0					7																	148851380		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851380G>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.368G>T	7.37:g.148851380G>T	ENSP00000420418:p.Arg123Met					ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR	p.R123M			Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	635	+	Melanoma(164;0.15)		123					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.368G>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000785	0.74818	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10860	2.83;2.84	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000058	T	0.30916	0.0780	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	T	0.00995	-1.1487	10	0.54805	T	0.06	-22.2834	14.2249	0.65853	0.0:0.0:1.0:0.0	.	128;123	B4DXA9;Q8TD17	.;ZN398_HUMAN	M	123;128	ENSP00000420418:R123M;ENSP00000439340:R128M	ENSP00000420418:R123M	R	+	2	0	ZNF398	148482313	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.382000	0.44345	2.420000	0.82092	0.655000	0.94253	AGG		0.537	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			74	404	1	0	1.7488e-33	1	2.07287e-33	74	404				
EHD3	30845	broad.mit.edu	37	2	31489251	31489251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31489251C>T	ENST00000322054.5	+	6	1574	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	430					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGGAGGGGGCTGGAGAAGGT	0.622																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1288-1290)gCt>gTt		EH-domain containing 3							75.0	68.0	71.0					2																	31489251		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31489251C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1289C>T	2.37:g.31489251C>T	ENSP00000327116:p.Ala430Val					EHD3_ENST00000541626.1_3'UTR	p.A430V	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			6	1574	+	Acute lymphoblastic leukemia(172;0.155)		430					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1289C>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140960	0.56936	.	.	ENSG00000013016	ENST00000322054	T	0.17691	2.26	5.84	5.84	0.93424	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.39020	1.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09907	-1.0653	10	0.15952	T	0.53	-19.4475	20.1432	0.98067	0.0:1.0:0.0:0.0	.	430	Q9NZN3	EHD3_HUMAN	V	430	ENSP00000327116:A430V	ENSP00000327116:A430V	A	+	2	0	EHD3	31342755	1.000000	0.71417	0.971000	0.41717	0.918000	0.54935	5.940000	0.70187	2.769000	0.95229	0.561000	0.74099	GCT		0.622	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		19	185	0	0	0	1	0	19	185				
RRM1	6240	broad.mit.edu	37	11	4128754	4128754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4128754G>A	ENST00000300738.5	+	4	580	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	126					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TATTGTTCTGGCCAATAAAGA	0.323																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(376-378)Gcc>Acc		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						84.0	87.0	86.0					11																	4128754		2201	4297	6498	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4128754G>A	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.376G>A	11.37:g.4128754G>A	ENSP00000300738:p.Ala126Thr					RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	p.A126T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	4	580	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	126					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.376G>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764826	0.69878	.	.	ENSG00000167325	ENST00000300738;ENST00000423050	T;T	0.31510	1.49;1.52	6.07	5.17	0.71159	Ribonucleotide reductase R1 subunit, N-terminal (1);	0.048798	0.85682	D	0.000000	T	0.29976	0.0750	L	0.56340	1.77	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.05354	-1.0890	9	.	.	.	-4.3347	14.2372	0.65934	0.0706:0.0:0.9294:0.0	.	126	P23921	RIR1_HUMAN	T	126;29	ENSP00000300738:A126T;ENSP00000390539:A29T	.	A	+	1	0	RRM1	4085330	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	9.091000	0.94151	1.582000	0.49881	0.655000	0.94253	GCC		0.323	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		62	268	0	0	0	1	0	62	268				
WFDC1	58189	broad.mit.edu	37	16	84353101	84353101	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353101C>T	ENST00000219454.5	+	4	812	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WFDC1_ENST00000568638.1_Silent_p.C162C	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	162					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GCTATGAGTGCCACATCCTGA	0.667																																						ENST00000219454.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						c.(484-486)tgC>tgT		WAP four-disulfide core domain 1							84.0	65.0	72.0					16																	84353101		2200	4300	6500	SO:0001819	synonymous_variant	58189				negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	g.chr16:84353101C>T	AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.486C>T	16.37:g.84353101C>T						WFDC1_ENST00000568638.1_Silent_p.C162C	p.C162C			Q9HC57	WFDC1_HUMAN			4	812	+			162					D3DUL7|Q8NC27|Q9HAU1	Silent	SNP	ENST00000219454.5	37	c.486C>T	CCDS10946.1																																																																																				0.667	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			96	247	0	0	0	1	0	96	247				
SLCO1B1	10599	broad.mit.edu	37	12	21355541	21355541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21355541T>C	ENST00000256958.2	+	10	1348	c.1252T>C	c.(1252-1254)Tca>Cca	p.S418P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	418					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGCTGTGATGTCATTGTCCTT	0.323																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1252-1254)Tca>Cca		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						90.0	84.0	86.0					12																	21355541		2203	4296	6499	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355541T>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1252T>C	12.37:g.21355541T>C	ENSP00000256958:p.Ser418Pro						p.S418P	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			10	1348	+			418					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1252T>C	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309843	0.40895	.	.	ENSG00000134538	ENST00000256958	T	0.60040	0.22	2.96	-5.92	0.02261	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.033120	0.07725	N	0.944329	T	0.69611	0.3130	M	0.75447	2.3	0.09310	N	1	P	0.38335	0.627	P	0.62649	0.905	T	0.70568	-0.4836	10	0.59425	D	0.04	.	5.6126	0.17414	0.4594:0.0:0.3794:0.1612	.	418	Q9Y6L6	SO1B1_HUMAN	P	418	ENSP00000256958:S418P	ENSP00000256958:S418P	S	+	1	0	SLCO1B1	21246808	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.081000	0.03403	-1.656000	0.01495	0.254000	0.18369	TCA		0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		52	181	0	0	0	1	0	52	181				
SERPINB5	5268	broad.mit.edu	37	18	61154290	61154290	+	Missense_Mutation	SNP	G	G	A	rs377697959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61154290G>A	ENST00000382771.4	+	3	572	c.280G>A	c.(280-282)Gta>Ata	p.V94I	SERPINB5_ENST00000489441.1_Missense_Mutation_p.V94I|RP11-635N19.3_ENST00000602456.1_RNA	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	94					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GCGGCTCTACGTAGACAAATC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		21211	0.0		0.001	False		,,,				2504	0.0					ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(280-282)Gta>Ata		serpin peptidase inhibitor, clade B (ovalbumin), member 5		G	ILE/VAL	0,4406		0,0,2203	83.0	81.0	82.0		280	-0.2	0.0	18		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB5	NM_002639.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	94/376	61154290	1,13005	2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61154290G>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.280G>A	18.37:g.61154290G>A	ENSP00000372221:p.Val94Ile					SERPINB5_ENST00000489441.1_Missense_Mutation_p.V94I	p.V94I	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			3	572	+			94					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.280G>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	0.164	-1.078385	0.01903	0.0	1.16E-4	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84516	-1.86;-1.86	5.12	-0.218	0.13142	Serpin domain (3);	0.554792	0.16710	N	0.202711	T	0.72779	0.3503	N	0.25647	0.755	0.09310	N	1	B;B	0.18968	0.002;0.032	B;B	0.12156	0.002;0.007	T	0.62115	-0.6922	10	0.56958	D	0.05	.	7.6841	0.28530	0.2986:0.0:0.5894:0.112	.	94;94	P36952;P36952-2	SPB5_HUMAN;.	I	94	ENSP00000372221:V94I;ENSP00000408821:V94I	ENSP00000372221:V94I	V	+	1	0	SERPINB5	59305270	0.264000	0.24093	0.047000	0.18901	0.902000	0.53008	0.384000	0.20668	0.016000	0.14998	-0.813000	0.03139	GTA		0.353	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		8	337	0	0	0	1	0	8	337				
PIK3C2G	5288	broad.mit.edu	37	12	18544112	18544112	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18544112A>G	ENST00000266497.5	+	13	1967	c.1929A>G	c.(1927-1929)agA>agG	p.R643R	PIK3C2G_ENST00000433979.1_Silent_p.R643R|PIK3C2G_ENST00000538779.1_Silent_p.R684R			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	643	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAGAGAATAGAAGTAATCTTG	0.383																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1927-1929)agA>agG		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							67.0	63.0	64.0					12																	18544112		1819	4083	5902	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18544112A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1929A>G	12.37:g.18544112A>G						PIK3C2G_ENST00000266497.5_Silent_p.R643R|PIK3C2G_ENST00000538779.1_Silent_p.R684R	p.R643R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			14	2045	+		Hepatocellular(102;0.194)	643					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.1929A>G	CCDS44839.1																																																																																				0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		21	143	0	0	0	1	0	21	143				
NPFF	8620	broad.mit.edu	37	12	53901208	53901208	+	Silent	SNP	G	G	A	rs369347574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53901208G>A	ENST00000267017.3	-	1	214	c.51C>T	c.(49-51)gaC>gaT	p.D17D	NPFF_ENST00000609999.1_De_novo_Start_OutOfFrame|RP11-793H13.10_ENST00000591834.1_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	17					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CACAGCCCCCGTCTATTAACA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18294	0.0		0.0	False		,,,				2504	0.0					ENST00000267017.3																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(49-51)gaC>gaT		neuropeptide FF-amide peptide precursor		G		1,4405	2.1+/-5.4	0,1,2202	104.0	93.0	97.0		51	1.7	0.0	12		97	0,8600		0,0,4300	no	coding-synonymous	NPFF	NM_003717.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		17/114	53901208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53901208G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.51C>T	12.37:g.53901208G>A						RP11-793H13.10_ENST00000591834.1_Intron	p.D17D	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN			1	214	-			17					Q3SXL4	Silent	SNP	ENST00000267017.3	37	c.51C>T	CCDS8862.1																																																																																				0.582	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		70	294	0	0	0	1	0	70	294				
PROS1	5627	broad.mit.edu	37	3	93617301	93617301	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93617301C>A	ENST00000394236.3	-	8	1156	c.840G>T	c.(838-840)aaG>aaT	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCTCACAACTCTTCTGATCTT	0.383																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(838-840)aaG>aaT		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						99.0	93.0	95.0					3																	93617301		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93617301C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.840G>T	3.37:g.93617301C>A	ENSP00000377783:p.Lys280Asn					PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	p.K280N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			8	1156	-			280			EGF-like 4; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.840G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768117	0.15983	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78481	-1.18;-1.18	4.26	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.340285	0.29822	N	0.011111	T	0.57446	0.2054	N	0.17872	0.535	0.33922	D	0.641007	B	0.33694	0.421	B	0.35470	0.203	T	0.58239	-0.7671	10	0.10377	T	0.69	.	5.791	0.18361	0.0:0.6646:0.1611:0.1743	.	280	P07225	PROS_HUMAN	N	280;149	ENSP00000377783:K280N;ENSP00000385794:K149N	ENSP00000377783:K280N	K	-	3	2	PROS1	95099991	0.262000	0.24073	1.000000	0.80357	0.841000	0.47740	0.917000	0.28665	1.150000	0.42419	0.585000	0.79938	AAG		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		59	252	1	0	5.10508e-28	1	5.92589e-28	59	252				
MDN1	23195	broad.mit.edu	37	6	90463339	90463339	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463339A>G	ENST00000369393.3	-	22	3082	c.2967T>C	c.(2965-2967)ggT>ggC	p.G989G	MDN1_ENST00000428876.1_Silent_p.G989G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	989					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAAACAAAAACCCTAGAAAG	0.398																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(2965-2967)ggT>ggC		MDN1, midasin homolog (yeast)							91.0	91.0	91.0					6																	90463339		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90463339A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2967T>C	6.37:g.90463339A>G						MDN1_ENST00000428876.1_Silent_p.G989G	p.G989G			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	22	3082	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	989					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.2967T>C	CCDS5024.1																																																																																				0.398	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			9	309	0	0	0	1	0	9	309				
RNFT1	51136	broad.mit.edu	37	17	58033915	58033915	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58033915C>A	ENST00000305783.8	-	7	1061		c.e7-1		RNFT1_ENST00000442346.2_Splice_Site|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ATTCCAAAAGCTGAAAAGAGA	0.303																																						ENST00000305783.8																			0				large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.e7-1		ring finger protein, transmembrane 1							49.0	46.0	47.0					17																	58033915		1796	4051	5847	SO:0001630	splice_region_variant	51136					integral to membrane	zinc ion binding	g.chr17:58033915C>A	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.1006-1G>T	17.37:g.58033915C>A						RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Splice_Site		NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		7	1061	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							Q8N7D0|Q96IZ9|Q9Y686	Splice_Site	SNP	ENST00000305783.8	37		CCDS11622.2	.	.	.	.	.	.	.	.	.	.	c	14.27	2.486454	0.44249	.	.	ENSG00000189050	ENST00000305783	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0542	0.89358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNFT1	55388697	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	5.784000	0.68990	2.486000	0.83907	0.557000	0.71058	.		0.303	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125	Intron	21	121	1	0	1.64113e-05	1	1.68037e-05	21	121				
INF2	64423	broad.mit.edu	37	14	105179914	105179914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179914C>T	ENST00000392634.4	+	20	3123	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1004					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AAGGCAGCCTCCATGGATCCC	0.652																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3010-3012)tCc>tTc		inverted formin, FH2 and WH2 domain containing							45.0	63.0	57.0					14																	105179914		2038	4191	6229	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105179914C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3011C>T	14.37:g.105179914C>T	ENSP00000376410:p.Ser1004Phe					INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	p.S1004F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	20	3123	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1004					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3011C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823223	0.32237	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.80738	-1.41;-1.41	4.04	2.16	0.27623	.	7.488640	0.01565	U	0.020283	T	0.66056	0.2751	N	0.19112	0.55	0.09310	N	0.999997	P;P	0.43094	0.799;0.697	B;B	0.31946	0.138;0.094	T	0.60016	-0.7345	10	0.49607	T	0.09	.	6.2899	0.21054	0.0:0.6793:0.1498:0.1709	.	1004;1004	Q27J81-2;Q27J81	.;INF2_HUMAN	F	1004	ENSP00000376406:S1004F;ENSP00000376410:S1004F	ENSP00000252527:S472F	S	+	2	0	INF2	104250959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.929000	0.28844	0.269000	0.21961	-0.379000	0.06801	TCC		0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		25	120	0	0	0	1	0	25	120				
ANO3	63982	broad.mit.edu	37	11	26620467	26620467	+	Silent	SNP	G	G	A	rs202180594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620467G>A	ENST00000256737.3	+	16	2445	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	ANO3_ENST00000531568.1_Silent_p.T385T|ANO3_ENST00000525139.1_Silent_p.T515T|ANO3_ENST00000537978.1_Silent_p.T515T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	531					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCCCATCACGGGAAAACCTG	0.403																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1591-1593)acG>acA		anoctamin 3		G		0,4406		0,0,2203	83.0	72.0	76.0		1593	-5.6	1.0	11		76	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ANO3	NM_031418.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		531/982	26620467	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26620467G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1593G>A	11.37:g.26620467G>A						ANO3_ENST00000537978.1_Silent_p.T515T|ANO3_ENST00000525139.1_Silent_p.T515T|ANO3_ENST00000531568.1_Silent_p.T385T	p.T531T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			16	2445	+			531					B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.1593G>A	CCDS31447.1																																																																																				0.403	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		28	154	0	0	0	1	0	28	154				
DYNC2H1	79659	broad.mit.edu	37	11	103062952	103062952	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103062952T>G	ENST00000375735.2	+	47	7811	c.7667T>G	c.(7666-7668)tTt>tGt	p.F2556C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2556					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACATCAGTGTTTCAAGGAGAT	0.343																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(7666-7668)tTt>tGt		dynein, cytoplasmic 2, heavy chain 1							63.0	61.0	62.0					11																	103062952		1839	4093	5932	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103062952T>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7667T>G	11.37:g.103062952T>G	ENSP00000364887:p.Phe2556Cys					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C	p.F2556C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	47	7811	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2556					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.7667T>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354833	0.61293	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	.	.	.	.	.	T	0.38612	0.1047	L	0.40543	1.245	0.36516	D	0.869866	P;P	0.45531	0.78;0.86	B;P	0.50440	0.325;0.641	T	0.41893	-0.9483	9	0.51188	T	0.08	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	2556;2556	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2556	ENSP00000364887:F2556C;ENSP00000381167:F2556C	ENSP00000364887:F2556C	F	+	2	0	DYNC2H1	102568162	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.682000	0.84083	2.302000	0.77476	0.533000	0.62120	TTT		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		17	68	0	0	0	1	0	17	68				
ANAPC1	64682	broad.mit.edu	37	2	112638284	112638284	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112638284C>T	ENST00000341068.3	-	2	891	c.119G>A	c.(118-120)cGc>cAc	p.R40H	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGCAGCTGGCGAAGTTGAAG	0.493																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(118-120)cGc>cAc		anaphase promoting complex subunit 1							54.0	53.0	54.0					2																	112638284		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112638284C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.119G>A	2.37:g.112638284C>T	ENSP00000339109:p.Arg40His					ANAPC1_ENST00000489177.1_5'UTR	p.R40H	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			2	891	-			40					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.119G>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964728	0.92791	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.83	4.96	0.65561	.	0.000000	0.44483	U	0.000442	T	0.53932	0.1827	L	0.48362	1.52	0.53005	D	0.999967	P;B	0.49559	0.925;0.167	B;B	0.43052	0.406;0.018	T	0.57653	-0.7774	9	0.51188	T	0.08	-15.8115	14.8488	0.70281	0.0:0.9309:0.0:0.0691	.	40;40	F8WAS1;Q9H1A4	.;APC1_HUMAN	H	40	.	ENSP00000339109:R40H	R	-	2	0	ANAPC1	112354755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.222000	0.78025	1.453000	0.47775	0.585000	0.79938	CGC		0.493	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		51	208	0	0	0	1	0	51	208				
ATP1B3	483	broad.mit.edu	37	3	141644374	141644374	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141644374T>C	ENST00000286371.3	+	7	859	c.671T>C	c.(670-672)gTt>gCt	p.V224A	ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000462082.1_Splice_Site_p.V34A	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	224	immunoglobulin-like. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						TATTGCCAGGTTGGGTATCTA	0.378																																						ENST00000286371.3																			0				cervix(1)|endometrium(1)|lung(2)	4						c.e7-1		ATPase, Na+/K+ transporting, beta 3 polypeptide							119.0	115.0	117.0					3																	141644374		2203	4300	6503	SO:0001630	splice_region_variant	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141644374T>C	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.670-1T>C	3.37:g.141644374T>C						ATP1B3_ENST00000462082.1_Splice_Site_p.V34_splice|ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR	p.V224_splice	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN			7	859	+			224					B7Z1N7	Splice_Site	SNP	ENST00000286371.3	37	c.669_splice	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	T	7.279	0.608812	0.14066	.	.	ENSG00000069849	ENST00000286371;ENST00000462082	T;T	0.29142	1.58;1.58	5.58	0.0747	0.14396	.	0.662303	0.16266	N	0.222039	T	0.21590	0.0520	M	0.65975	2.015	0.40735	D	0.982782	B;B	0.19200	0.034;0.034	B;B	0.22152	0.022;0.038	T	0.14699	-1.0463	10	0.07482	T	0.82	-6.4638	1.5542	0.02581	0.1219:0.1728:0.2729:0.4324	.	210;224	D3DNF9;P54709	.;AT1B3_HUMAN	A	224;34	ENSP00000286371:V224A;ENSP00000418353:V34A	ENSP00000286371:V224A	V	+	2	0	ATP1B3	143127064	0.957000	0.32711	0.226000	0.23910	0.093000	0.18481	0.330000	0.19715	0.064000	0.16427	0.533000	0.62120	GTT		0.378	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679	Missense_Mutation	131	558	0	0	0	1	0	131	558				
MAGI2	9863	broad.mit.edu	37	7	78130968	78130968	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:78130968G>A	ENST00000354212.4	-	5	1144	c.891C>T	c.(889-891)gaC>gaT	p.D297D	MAGI2_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000535697.1_Silent_p.D134D|MAGI2_ENST00000522391.1_Silent_p.D297D|MAGI2_ENST00000419488.1_Silent_p.D297D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	297					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTCCTCATTGTCTTCAGGTT	0.488																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(889-891)gaC>gaT		membrane associated guanylate kinase, WW and PDZ domain containing 2							343.0	269.0	294.0					7																	78130968		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78130968G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.891C>T	7.37:g.78130968G>A						MAGI2_ENST00000419488.1_Silent_p.D297D|MAGI2_ENST00000535697.1_Silent_p.D134D|MAGI2_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000522391.1_Silent_p.D297D	p.D297D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			5	1144	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	297					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.891C>T	CCDS5594.1																																																																																				0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		93	430	0	0	0	1	0	93	430				
ATR	545	broad.mit.edu	37	3	142242863	142242863	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142242863T>C	ENST00000350721.4	-	22	4245	c.4124A>G	c.(4123-4125)gAa>gGa	p.E1375G	ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1375					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCTTGAGTTTCAGTTGTTGA	0.393								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4123-4125)gAa>gGa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							116.0	111.0	113.0					3																	142242863		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142242863T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4124A>G	3.37:g.142242863T>C	ENSP00000343741:p.Glu1375Gly					ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	p.E1375G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			22	4245	-			1375					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4124A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027794	0.54790	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.05925	3.37;3.85	5.39	5.39	0.77823	Armadillo-like helical (1);	0.285567	0.39475	N	0.001353	T	0.05823	0.0152	N	0.24115	0.695	0.49051	D	0.999744	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.23891	T	0.37	-9.1976	15.69	0.77442	0.0:0.0:0.0:1.0	.	1375	Q13535	ATR_HUMAN	G	1375;1311	ENSP00000343741:E1375G;ENSP00000372581:E1311G	ENSP00000343741:E1375G	E	-	2	0	ATR	143725553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.812000	0.69194	2.150000	0.67090	0.533000	0.62120	GAA		0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		17	532	0	0	0	1	0	17	532				
NIPBL	25836	broad.mit.edu	37	5	37051924	37051924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051924C>T	ENST00000282516.8	+	41	7497	c.6998C>T	c.(6997-6999)gCt>gTt	p.A2333V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2333					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCAGAACCTGCTATGCGGAAC	0.318																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6997-6999)gCt>gTt		Nipped-B homolog (Drosophila)							85.0	89.0	87.0					5																	37051924		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051924C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6998C>T	5.37:g.37051924C>T	ENSP00000282516:p.Ala2333Val					NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7497	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2333					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6998C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452098	0.43531	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.177968	0.49916	D	0.000135	T	0.41949	0.1181	N	0.04090	-0.28	0.43110	D	0.99481	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.15052	0.009;0.012;0.005	T	0.37663	-0.9696	10	0.11794	T	0.64	-12.0814	19.8167	0.96571	0.0:1.0:0.0:0.0	.	2333;2333;2333	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	V	2333	ENSP00000282516:A2333V;ENSP00000406266:A2333V	ENSP00000282516:A2333V	A	+	2	0	NIPBL	37087681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	2.685000	0.91497	0.557000	0.71058	GCT		0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		59	213	0	0	0	1	0	59	213				
VEPH1	79674	broad.mit.edu	37	3	157081170	157081170	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157081170T>C	ENST00000362010.2	-	9	2025	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	573						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTACACTGATCAGGGACTGG	0.378																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1717-1719)gAt>gGt		ventricular zone expressed PH domain-containing 1							163.0	159.0	160.0					3																	157081170		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081170T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1718A>G	3.37:g.157081170T>C	ENSP00000354919:p.Asp573Gly					VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|RP11-550I24.2_ENST00000487238.1_RNA	p.D573G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	2025	-			573					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1718A>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631716	0.46944	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.09163	3.01;3.04;3.01;3.04	5.5	5.5	0.81552	.	0.098590	0.64402	D	0.000002	T	0.14098	0.0341	L	0.34521	1.04	0.80722	D	1	P;P	0.52170	0.951;0.521	P;B	0.47645	0.553;0.142	T	0.01027	-1.1476	10	0.59425	D	0.04	-14.4798	15.6131	0.76744	0.0:0.0:0.0:1.0	.	573;573	Q14D04-2;Q14D04	.;MELT_HUMAN	G	573	ENSP00000376578:D573G;ENSP00000354919:D573G;ENSP00000446258:D573G;ENSP00000376577:D573G	ENSP00000354919:D573G	D	-	2	0	VEPH1	158563864	1.000000	0.71417	0.914000	0.36105	0.999000	0.98932	5.721000	0.68477	2.084000	0.62774	0.533000	0.62120	GAT		0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		175	703	0	0	0	1	0	175	703				
ETNPPL	64850	broad.mit.edu	37	4	109681389	109681389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109681389C>T	ENST00000296486.3	-	2	284	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000510706.1_Missense_Mutation_p.E4K|ETNPPL_ENST00000411864.2_Missense_Mutation_p.E44K	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	44						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCACCGTTCTCATCAAACATG	0.433																																						ENST00000296486.3																			0											c.(130-132)Gag>Aag		ethanolamine-phosphate phospho-lyase							155.0	145.0	148.0					4																	109681389		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109681389C>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.130G>A	4.37:g.109681389C>T	ENSP00000296486:p.Glu44Lys					ETNPPL_ENST00000411864.2_Missense_Mutation_p.E44K|ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000510706.1_Missense_Mutation_p.E4K	p.E44K	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					2	284	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.130G>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612301	0.87258	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000510706	D;D;D	0.85773	-2.03;-2.03;-2.03	5.46	4.62	0.57501	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92159	0.7514	M	0.84773	2.715	0.80722	D	1	P;D	0.76494	0.877;0.999	P;D	0.67382	0.535;0.951	D	0.92730	0.6199	9	.	.	.	-30.9791	14.1904	0.65635	0.0:0.9277:0.0:0.0723	.	44;44	Q8TBG4-2;Q8TBG4	.;AT2L1_HUMAN	K	44;44;4	ENSP00000296486:E44K;ENSP00000392269:E44K;ENSP00000423240:E4K	.	E	-	1	0	AGXT2L1	109900838	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	7.764000	0.85297	1.306000	0.44926	-0.253000	0.11424	GAG		0.433	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		88	404	0	0	0	1	0	88	404				
SLC6A20	54716	broad.mit.edu	37	3	45812884	45812884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45812884G>T	ENST00000358525.4	-	6	875	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M|SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	254					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCGAAGCCCAGGCCAAGTGAG	0.582																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(760-762)Ctg>Atg		solute carrier family 6 (proline IMINO transporter), member 20							144.0	121.0	129.0					3																	45812884		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812884G>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.760C>A	3.37:g.45812884G>T	ENSP00000346298:p.Leu254Met					SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M	p.L254M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	6	875	-			254					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.760C>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610749	0.66558	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.05	3.22	0.36961	.	0.000000	0.64402	D	0.000003	D	0.88366	0.6417	M	0.88570	2.965	0.38052	D	0.935792	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89369	0.3673	10	0.72032	D	0.01	.	10.8715	0.46885	0.158:0.0:0.842:0.0	.	217;254	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	M	217;254;254;207	ENSP00000296133:L217M;ENSP00000346298:L254M;ENSP00000404310:L254M;ENSP00000395506:L207M	ENSP00000296133:L217M	L	-	1	2	SLC6A20	45787888	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.690000	0.54713	0.499000	0.27970	0.467000	0.42956	CTG		0.582	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		55	242	1	0	2.73381e-35	1	3.26223e-35	55	242				
APOL3	80833	broad.mit.edu	37	22	36537445	36537445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36537445G>A	ENST00000349314.2	-	3	1049	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	APOL3_ENST00000361710.2_Missense_Mutation_p.R138W|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000487423.1_5'Flank|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W|APOL3_ENST00000424878.2_Missense_Mutation_p.R138W	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	338					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)	p.R338W(1)|p.R267W(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTCAGGATCCGGGCTCCTCTG	0.577																																						ENST00000424878.2																			2	Substitution - Missense(2)	p.R338W(1)|p.R267W(1)	endometrium(2)	endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(412-414)Cgg>Tgg		apolipoprotein L, 3							67.0	60.0	62.0					22																	36537445		2203	4300	6503	SO:0001583	missense	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36537445G>A	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.1012C>T	22.37:g.36537445G>A	ENSP00000344577:p.Arg338Trp					APOL3_ENST00000361710.2_Missense_Mutation_p.R138W|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W|APOL3_ENST00000349314.2_Missense_Mutation_p.R338W	p.R138W			O95236	APOL3_HUMAN			4	2560	-			338					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	c.412C>T	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275184	0.59649	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	4.08	0.374	0.16183	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.76170	2.325	0.28874	N	0.894763	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01273	-1.1399	10	0.62326	D	0.03	.	6.8323	0.23917	0.0:0.1585:0.3732:0.4682	.	338;267	O95236;O95236-2	APOL3_HUMAN;.	W	267;138;338;138;138	ENSP00000380461:R267W;ENSP00000415779:R138W;ENSP00000344577:R338W;ENSP00000355164:R138W;ENSP00000380456:R138W	ENSP00000344577:R338W	R	-	1	2	APOL3	34867391	0.252000	0.23972	0.355000	0.25773	0.011000	0.07611	0.390000	0.20768	0.464000	0.27142	0.478000	0.44815	CGG		0.577	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		62	294	0	0	0	1	0	62	294				
CAT	847	broad.mit.edu	37	11	34482810	34482810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34482810G>A	ENST00000241052.4	+	9	1158	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	357					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CCGCCTTTTTGCCTATCCTGA	0.473																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(1069-1071)Gcc>Acc		catalase	Fomepizole(DB01213)						140.0	136.0	137.0					11																	34482810		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34482810G>A	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1069G>A	11.37:g.34482810G>A	ENSP00000241052:p.Ala357Thr						p.A357T	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	9	1158	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	357					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.1069G>A	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785119	0.49997	.	.	ENSG00000121691	ENST00000241052	D	0.93019	-3.15	4.98	-2.58	0.06228	Catalase domain (1);Catalase, N-terminal (2);	0.178585	0.49916	D	0.000137	D	0.94162	0.8127	M	0.87682	2.9	0.41829	D	0.990061	P	0.37914	0.611	B	0.41860	0.368	D	0.92138	0.5718	10	0.72032	D	0.01	-9.7713	18.9336	0.92576	0.0:0.0:0.2394:0.7606	.	357	P04040	CATA_HUMAN	T	357	ENSP00000241052:A357T	ENSP00000241052:A357T	A	+	1	0	CAT	34439386	0.983000	0.35010	0.977000	0.42913	0.951000	0.60555	0.504000	0.22626	-0.437000	0.07243	-1.404000	0.01136	GCC		0.473	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		115	567	0	0	0	1	0	115	567				
PSG1	5669	broad.mit.edu	37	19	43372370	43372370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372370C>A	ENST00000436291.2	-	5	1242	c.1126G>T	c.(1126-1128)Gga>Tga	p.G376*	PSG1_ENST00000403380.3_Nonsense_Mutation_p.G283*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.G283*|PSG1_ENST00000244296.2_Nonsense_Mutation_p.G376*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.G376*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.G376*	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	376	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGCTTTTGTCCTGGTAGCTGA	0.453																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1126-1128)Gga>Tga		pregnancy specific beta-1-glycoprotein 1							180.0	187.0	185.0					19																	43372370		2201	4298	6499	SO:0001587	stop_gained	0							g.chr19:43372370C>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1126G>T	19.37:g.43372370C>A	ENSP00000413041:p.Gly376*					PSG1_ENST00000403380.3_Nonsense_Mutation_p.G283*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.G376*|PSG1_ENST00000436291.2_Nonsense_Mutation_p.G376*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.G283*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.G376*	p.G376*	NM_006905.2	NP_008836.2					5	1263	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Nonsense_Mutation	SNP	ENST00000436291.2	37	c.1126G>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	15.23	2.772159	0.49680	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.63	0.478	0.16789	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3649	0.07199	0.0:0.2662:0.0:0.7338	.	.	.	.	X	376;283;376;376	.	ENSP00000244296:G376X	G	-	1	0	PSG1	48064210	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.107000	0.15375	-0.087000	0.12528	0.195000	0.17529	GGA		0.453	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			198	1090	1	0	7.84169e-52	1	9.74292e-52	198	1090				
LARP1B	55132	broad.mit.edu	37	4	128999013	128999013	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128999013A>C	ENST00000326639.6	+	4	324	c.113A>C	c.(112-114)aAg>aCg	p.K38T	LARP1B_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T|LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	38						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGGTTGAAAAGAGAAGTAAC	0.378																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(112-114)aAg>aCg		La ribonucleoprotein domain family, member 1B							79.0	82.0	81.0					4																	128999013		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:128999013A>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.113A>C	4.37:g.128999013A>C	ENSP00000321997:p.Lys38Thr					LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T|LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR	p.K38T	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			4	324	+			38					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.113A>C	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.13|16.13	3.034923|3.034923	0.54896|0.54896	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	.|T;T;T;T;T;T;T;T	.|0.51071	.|1.77;1.33;1.37;0.74;0.72;1.78;1.75;1.33	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	0.339622|0.339622	0.30028|0.30028	N|N	0.010591|0.010591	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47910	.|0.704;0.873;0.873;0.902	.|B;P;P;B	.|0.47346	.|0.122;0.544;0.544;0.359	T|T	0.40059|0.40059	-0.9583|-0.9583	6|10	.|0.44086	.|T	.|0.13	.|.	12.9379|12.9379	0.58325|0.58325	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|38;38;38;38	.|Q659C4;G3XAJ5;Q659C4-3;G3V0E9	.|LAR1B_HUMAN;.;.;.	N|T	6|38	.|ENSP00000321997:K38T;ENSP00000422850:K38T;ENSP00000427281:K38T;ENSP00000377829:K38T;ENSP00000390395:K38T;ENSP00000264584:K38T;ENSP00000396521:K38T;ENSP00000403586:K38T	.|ENSP00000264584:K38T	K|K	+|+	3|2	2|0	LARP1B|LARP1B	129218463|129218463	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	4.835000|4.835000	0.62781|0.62781	1.791000|1.791000	0.52520|0.52520	0.386000|0.386000	0.25728|0.25728	AAA|AAG		0.378	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		6	189	0	0	0	1	0	6	189				
HERC1	8925	broad.mit.edu	37	15	64050478	64050478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64050478C>T	ENST00000443617.2	-	4	1204	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	373					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATAAACCTCACAGGTTTCG	0.448																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(1117-1119)Gag>Aag		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							104.0	98.0	99.0					15																	64050478		1872	4114	5986	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64050478C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1117G>A	15.37:g.64050478C>T	ENSP00000390158:p.Glu373Lys						p.E373K	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			4	1204	-			373					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1117G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712006	0.96830	.	.	ENSG00000103657	ENST00000443617	D	0.84800	-1.9	5.35	5.35	0.76521	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.64402	U	0.000001	D	0.88676	0.6501	L	0.37630	1.12	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62885	0.908;0.908	D	0.89424	0.3712	10	0.66056	D	0.02	.	19.4276	0.94749	0.0:1.0:0.0:0.0	.	373;373	C9JUT5;Q15751	.;HERC1_HUMAN	K	373	ENSP00000390158:E373K	ENSP00000390158:E373K	E	-	1	0	HERC1	61837531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.647000	0.89833	0.655000	0.94253	GAG		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		43	171	0	0	0	1	0	43	171				
ITPRIPL1	150771	broad.mit.edu	37	2	96992435	96992435	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96992435T>C	ENST00000439118.2	+	3	317	c.66T>C	c.(64-66)gtT>gtC	p.V22V	ITPRIPL1_ENST00000361124.4_Silent_p.V30V|ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000536814.1_Silent_p.V14V	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	22						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATGTATGTTGTTCACCACC	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(88-90)gtT>gtC		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							159.0	133.0	142.0					2																	96992435		2203	4300	6503	SO:0001819	synonymous_variant	150771					integral to membrane		g.chr2:96992435T>C		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.66T>C	2.37:g.96992435T>C						ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000439118.2_Silent_p.V22V|ITPRIPL1_ENST00000536814.1_Silent_p.V14V	p.V30V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	501	+			22					F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	c.90T>C	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	T	6.629	0.484444	0.12641	.	.	ENSG00000198885	ENST00000420728	.	.	.	4.89	-4.61	0.03380	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-6.2416	9.4413	0.38670	0.0:0.1531:0.6099:0.237	.	.	.	.	S	54	.	.	L	+	2	0	ITPRIPL1	96356162	0.000000	0.05858	0.896000	0.35187	0.999000	0.98932	-4.207000	0.00274	-1.018000	0.03363	0.533000	0.62120	TTG		0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		94	417	0	0	0	1	0	94	417				
SLC6A3	6531	broad.mit.edu	37	5	1414875	1414875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1414875C>T	ENST00000270349.9	-	8	1214	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	363					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GAGAAGACGACGAAGCCGGAG	0.612																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1087-1089)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						101.0	86.0	91.0					5																	1414875		2203	4299	6502	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1414875C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1087G>A	5.37:g.1414875C>T	ENSP00000270349:p.Val363Ile					SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	p.V363I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		8	1214	-			363					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1087G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443100	0.96187	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75589	-0.95;-0.95	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.71206	2.165	0.58432	D	0.999999	D	0.63880	0.993	P	0.59595	0.86	D	0.85050	0.0928	10	0.72032	D	0.01	.	13.8206	0.63318	0.0:1.0:0.0:0.0	.	363	Q01959	SC6A3_HUMAN	I	363	ENSP00000270349:V363I;ENSP00000399806:V363I	ENSP00000270349:V363I	V	-	1	0	SLC6A3	1467875	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	7.116000	0.77119	1.837000	0.53436	0.555000	0.69702	GTC		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		52	270	0	0	0	1	0	52	270				
TSHZ1	10194	broad.mit.edu	37	18	72998659	72998659	+	Missense_Mutation	SNP	G	G	A	rs373817259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998659G>A	ENST00000580243.1	+	2	1645	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A388T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	433					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGCTCACCGCCCACATGAT	0.597																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1162-1164)Gcc>Acc		teashirt zinc finger homeobox 1		G	THR/ALA	0,4406		0,0,2203	52.0	50.0	51.0		1162	4.4	1.0	18		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHZ1	NM_005786.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	388/1033	72998659	1,13005	2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998659G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1297G>A	18.37:g.72998659G>A	ENSP00000464391:p.Ala433Thr					TSHZ1_ENST00000580243.1_Missense_Mutation_p.A433T	p.A388T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1746	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	433					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1162G>A		.	.	.	.	.	.	.	.	.	.	G	12.40	1.926152	0.34002	0.0	1.16E-4	ENSG00000179981	ENST00000322038	T	0.28069	1.63	5.27	4.38	0.52667	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	N	0.02539	-0.55	0.52099	D	0.999949	P	0.40731	0.728	B	0.35073	0.195	T	0.18935	-1.0321	10	0.10111	T	0.7	-25.0106	9.3694	0.38246	0.0752:0.1457:0.7791:0.0	.	433	Q6ZSZ6	TSH1_HUMAN	T	388	ENSP00000323584:A388T	ENSP00000323584:A388T	A	+	1	0	TSHZ1	71127647	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.389000	0.97243	2.452000	0.82932	0.561000	0.74099	GCC		0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		7	265	0	0	0	1	0	7	265				
KRT2	3849	broad.mit.edu	37	12	53042884	53042884	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53042884G>A	ENST00000309680.3	-	4	885	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	288	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CATTGTCCACGTCCTGCAAGA	0.517																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(862-864)gaC>gaT		keratin 2							126.0	97.0	107.0					12																	53042884		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53042884G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.864C>T	12.37:g.53042884G>A							p.D288D	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	4	885	-			288			Coil 1B.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.864C>T	CCDS8835.1																																																																																				0.517	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		54	250	0	0	0	1	0	54	250				
GRIP1	23426	broad.mit.edu	37	12	66990684	66990684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66990684C>T	ENST00000398016.3	-	2	147	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	GRIP1_ENST00000359742.4_Missense_Mutation_p.A27T|GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T	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)		GTCTGGCTGGCGGATTTAGTG	0.443																																						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.(79-81)Gcc>Acc		glutamate receptor interacting protein 1							104.0	107.0	106.0					12																	66990684		1895	4124	6019	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.chr12:66990684C>T	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.79G>A	12.37:g.66990684C>T	ENSP00000381098:p.Ala27Thr					GRIP1_ENST00000398016.3_Missense_Mutation_p.A27T|GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T	p.A27T			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	2	319	-			27					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.79G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467165	0.43839	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000541947	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.48	5.83	3.91	0.45181	.	0.135447	0.48767	N	0.000168	T	0.09069	0.0224	N	0.08118	0	0.30312	N	0.788396	B;B	0.13594	0.007;0.008	B;B	0.14578	0.011;0.011	T	0.17471	-1.0368	9	.	.	.	-14.9658	6.7807	0.23643	0.174:0.7379:0.0:0.088	.	27;27	F5H4N6;Q9Y3R0-3	.;.	T	27;27;27;27;53	ENSP00000381098:A27T;ENSP00000352780:A27T;ENSP00000286445:A27T;ENSP00000446047:A27T;ENSP00000438921:A53T	.	A	-	1	0	GRIP1	65276951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.682000	0.37628	1.466000	0.48025	-0.145000	0.13849	GCC		0.443	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			78	342	0	0	0	1	0	78	342				
GAK	2580	broad.mit.edu	37	4	887739	887739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:887739G>A	ENST00000314167.4	-	8	910	c.800C>T	c.(799-801)gCg>gTg	p.A267V	GAK_ENST00000511163.1_Missense_Mutation_p.A188V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCGAAGTTTCGCTCCATCCTC	0.612																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(799-801)gCg>gTg		cyclin G associated kinase							98.0	66.0	77.0					4																	887739		2202	4297	6499	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:887739G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.800C>T	4.37:g.887739G>A	ENSP00000314499:p.Ala267Val					GAK_ENST00000511163.1_Missense_Mutation_p.A188V	p.A267V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	8	910	-			267			Protein kinase.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.800C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772525	0.96922	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.66280	-0.2;-0.2	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050221	0.85682	D	0.000000	T	0.69833	0.3155	L	0.28649	0.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;1.0	T	0.73711	-0.3897	10	0.72032	D	0.01	-19.8381	15.7059	0.77580	0.0:0.0:1.0:0.0	.	188;188;267;163	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	V	267;188	ENSP00000314499:A267V;ENSP00000421361:A188V	ENSP00000314499:A267V	A	-	2	0	GAK	877739	1.000000	0.71417	0.762000	0.31397	0.971000	0.66376	6.812000	0.75226	2.291000	0.77112	0.563000	0.77884	GCG		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		52	127	0	0	0	1	0	52	127				
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|NAT6_ENST00000417393.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000443842.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGCTCTTCCGCTCACACCAC	0.552																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(1291-1293)Cgg>Tgg		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						93.0	95.0	95.0					3																	50337931		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50337931G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1291C>T	3.37:g.50337931G>A	ENSP00000266031:p.Arg431Trp					HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W	p.R431W			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1906	-			431					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.1291C>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551292	0.65311	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.31769	2.22;2.22;2.22;1.89;1.48;1.48	5.26	0.865	0.19074	.	0.616045	0.12080	U	0.501421	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	D;D	0.58970	0.979;0.984	B;B	0.43123	0.409;0.061	T	0.17077	-1.0381	10	0.87932	D	0	-0.7613	12.6533	0.56774	0.0:0.0:0.422:0.578	.	401;431	Q12794-2;Q12794	.;HYAL1_HUMAN	W	431;431;431;401;249;172	ENSP00000378576:R431W;ENSP00000266031:R431W;ENSP00000346068:R431W;ENSP00000378575:R401W;ENSP00000393358:R249W;ENSP00000390149:R172W	ENSP00000266031:R431W	R	-	1	2	HYAL1	50312935	0.135000	0.22499	0.153000	0.22517	0.213000	0.24496	0.949000	0.29109	0.142000	0.18901	0.313000	0.20887	CGG		0.552	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			14	384	0	0	0	1	0	14	384				
HAS3	3038	broad.mit.edu	37	16	69143880	69143880	+	Silent	SNP	C	C	T	rs200119038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69143880C>T	ENST00000306560.1	+	2	738	c.582C>T	c.(580-582)cgC>cgT	p.R194R	HAS3_ENST00000569188.1_Silent_p.R194R|HAS3_ENST00000219322.3_Silent_p.R194R	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	194					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAGGCAAGCGCGAGGTCATGT	0.627																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(580-582)cgC>cgT		hyaluronan synthase 3		C	,,	0,4396		0,0,2198	77.0	61.0	67.0		582,582,582	-3.4	1.0	16		67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	HAS3	NM_001199280.1,NM_005329.2,NM_138612.2	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	194/554,194/554,194/282	69143880	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143880C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.582C>T	16.37:g.69143880C>T						HAS3_ENST00000219322.3_Silent_p.R194R|HAS3_ENST00000569188.1_Silent_p.R194R	p.R194R	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	738	+		Ovarian(137;0.101)	194					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.582C>T	CCDS10871.1																																																																																				0.627	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		44	160	0	0	0	1	0	44	160				
IVNS1ABP	10625	broad.mit.edu	37	1	185278210	185278210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185278210C>T	ENST00000367498.3	-	4	828	c.206G>A	c.(205-207)gGa>gAa	p.G69E	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GTGAGAAATTCCATGAGGATC	0.378																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(205-207)gGa>gAa		influenza virus NS1A binding protein							53.0	55.0	54.0					1																	185278210		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185278210C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.206G>A	1.37:g.185278210C>T	ENSP00000356468:p.Gly69Glu					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E	p.G69E	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			4	828	-			69			BTB.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.206G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830580	0.91036	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.66460	-0.21;-0.21	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.144833	0.64402	D	0.000007	T	0.73666	0.3616	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71774	-0.4491	10	0.35671	T	0.21	.	19.774	0.96385	0.0:1.0:0.0:0.0	.	69	Q9Y6Y0	NS1BP_HUMAN	E	69	ENSP00000356468:G69E;ENSP00000356467:G69E	ENSP00000356467:G69E	G	-	2	0	IVNS1ABP	183544833	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.711000	0.84669	2.679000	0.91253	0.591000	0.81541	GGA		0.378	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		72	215	0	0	0	1	0	72	215				
RIMS1	22999	broad.mit.edu	37	6	73108697	73108697	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73108697T>C	ENST00000521978.1	+	33	4761	c.4761T>C	c.(4759-4761)tgT>tgC	p.C1587C	RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000517960.1_Silent_p.C1370C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000264839.7_Silent_p.C1436C|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000520567.1_Silent_p.C1237C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1587	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGGGCCTGTATAGCCAAGA	0.333																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(4306-4308)tgT>tgC		regulating synaptic membrane exocytosis 1							96.0	93.0	94.0					6																	73108697		1821	4088	5909	SO:0001819	synonymous_variant	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73108697T>C	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4761T>C	6.37:g.73108697T>C						RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000521978.1_Silent_p.C1587C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000520567.1_Silent_p.C1237C|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000517960.1_Silent_p.C1370C	p.C1436C			Q86UR5	RIMS1_HUMAN			29	4308	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1587					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.4308T>C	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.660|6.660	0.490392|0.490392	0.12702|0.12702	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.37|5.37	2.75|2.75	0.32379|0.32379	.|.	.|.	.|.	.|.	.|.	T|T	0.43166|0.43166	0.1235|0.1235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35649|0.35649	-0.9780|-0.9780	4|4	.|.	.|.	.|.	-13.4425|-13.4425	8.1248|8.1248	0.30992|0.30992	0.0:0.2829:0.0:0.7171|0.0:0.2829:0.0:0.7171	.|.	.|.	.|.	.|.	A|H	505|933	.|.	.|.	V|Y	+|+	2|1	0|0	RIMS1|RIMS1	73165418|73165418	0.428000|0.428000	0.25522|0.25522	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	-0.266000|-0.266000	0.08631|0.08631	0.995000|0.995000	0.38917|0.38917	0.482000|0.482000	0.46254|0.46254	GTA|TAT		0.333	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			40	167	0	0	0	1	0	40	167				
FGR	2268	broad.mit.edu	37	1	27939553	27939553	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27939553A>G	ENST00000374005.3	-	13	1750	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	FGR_ENST00000374004.1_Missense_Mutation_p.Y488H|FGR_ENST00000545953.1_Missense_Mutation_p.Y422H|FGR_ENST00000399173.1_Missense_Mutation_p.Y488H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGCCTCGTACAGGGATGCT	0.597																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(1462-1464)Tac>Cac		feline Gardner-Rasheed sarcoma viral oncogene homolog							84.0	71.0	76.0					1																	27939553		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27939553A>G	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1462T>C	1.37:g.27939553A>G	ENSP00000363117:p.Tyr488His					FGR_ENST00000399173.1_Missense_Mutation_p.Y488H|FGR_ENST00000374004.1_Missense_Mutation_p.Y488H|FGR_ENST00000545953.1_Missense_Mutation_p.Y422H	p.Y488H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	13	1750	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	488			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.1462T>C	CCDS305.1	.	.	.	.	.	.	.	.	.	.	a	0.837	-0.743203	0.03088	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	4.89	3.75	0.43078	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.126247	0.34531	N	0.003890	D	0.84897	0.5574	L	0.55017	1.72	0.29442	N	0.85912	P	0.48294	0.908	P	0.54238	0.746	T	0.77115	-0.2707	10	0.22706	T	0.39	.	7.4482	0.27223	0.8264:0.0:0.1736:0.0	.	488	P09769	FGR_HUMAN	H	488;422;488;488;488	ENSP00000363117:Y488H;ENSP00000445302:Y422H;ENSP00000382126:Y488H;ENSP00000363116:Y488H;ENSP00000363115:Y488H	ENSP00000363115:Y488H	Y	-	1	0	FGR	27812140	1.000000	0.71417	0.324000	0.25361	0.033000	0.12548	6.332000	0.72934	0.807000	0.34208	0.478000	0.44815	TAC		0.597	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		24	263	0	0	0	1	0	24	263				
NINL	22981	broad.mit.edu	37	20	25507115	25507115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25507115G>A	ENST00000278886.6	-	2	182	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	NINL_ENST00000422516.1_Missense_Mutation_p.L37F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGAAGCTTAAGGCAGAGCTGG	0.572																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(109-111)Ctt>Ttt		ninein-like							131.0	129.0	130.0					20																	25507115		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507115G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.109C>T	20.37:g.25507115G>A	ENSP00000278886:p.Leu37Phe					NINL_ENST00000422516.1_Missense_Mutation_p.L37F	p.L37F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			2	182	-			37			EF-hand 1.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.109C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445863	0.25987	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.22134	1.97;1.97	5.11	2.05	0.26809	EF-hand-like domain (1);	1.410640	0.04275	N	0.342829	T	0.10766	0.0263	N	0.08118	0	0.22142	N	0.999338	B;B	0.16396	0.004;0.017	B;B	0.15052	0.004;0.012	T	0.29671	-1.0004	10	0.09843	T	0.71	0.1571	6.9357	0.24464	0.1545:0.0:0.7002:0.1453	.	37;37	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	F	37	ENSP00000278886:L37F;ENSP00000410431:L37F	ENSP00000278886:L37F	L	-	1	0	NINL	25455115	0.991000	0.36638	0.322000	0.25334	0.984000	0.73092	1.990000	0.40717	0.390000	0.25115	0.561000	0.74099	CTT		0.572	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		144	703	0	0	0	1	0	144	703				
PPP4C	5531	broad.mit.edu	37	16	30094745	30094745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30094745C>A	ENST00000279387.7	+	6	502	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	PPP4C_ENST00000561610.1_Silent_p.R112R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	112					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CACACTGATCCGGGGCAACCA	0.607																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(334-336)Cgg>Agg		protein phosphatase 4, catalytic subunit							98.0	94.0	96.0					16																	30094745		2197	4300	6497	SO:0001819	synonymous_variant	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30094745C>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.334C>A	16.37:g.30094745C>A						PPP4C_ENST00000561610.1_Silent_p.R112R	p.R112R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			6	502	+			112					P33172	Silent	SNP	ENST00000279387.7	37	c.334C>A	CCDS10669.1																																																																																				0.607	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		81	459	1	0	1.21826e-31	1	1.43537e-31	81	459				
PNMAL1	55228	broad.mit.edu	37	19	46971816	46971816	+	3'UTR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46971816G>T	ENST00000313683.10	-	0	1627				PNMAL1_ENST00000602246.1_Missense_Mutation_p.L79M|PNMAL1_ENST00000438932.2_Missense_Mutation_p.L373M	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1											cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tggtcccccagatcaaacctt	0.418																																						ENST00000438932.2																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1117-1119)Ctg>Atg		paraneoplastic Ma antigen family-like 1							139.0	131.0	134.0					19																	46971816		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55228							g.chr19:46971816G>T	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.*2C>A	19.37:g.46971816G>T						PNMAL1_ENST00000602246.1_Missense_Mutation_p.L79M|PNMAL1_ENST00000313683.10_3'UTR	p.L373M			Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	3	1266	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	0					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.1117C>A	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	G	7.811	0.715735	0.15306	.	.	ENSG00000182013	ENST00000438932	T	0.20738	2.05	3.12	0.823	0.18812	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.09310	N	1	P	0.42357	0.777	P	0.47705	0.555	T	0.15321	-1.0441	8	0.87932	D	0	.	4.8059	0.13319	0.7164:0.0:0.2836:0.0	.	373	Q86V59-2	.	M	373	ENSP00000410273:L373M	ENSP00000410273:L373M	L	-	1	2	PNMAL1	51663656	0.000000	0.05858	0.006000	0.13384	0.066000	0.16364	-0.160000	0.10041	0.137000	0.18759	-0.459000	0.05422	CTG		0.418	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		67	356	1	0	5.00936e-31	1	5.8875e-31	67	356				
NALCN	259232	broad.mit.edu	37	13	101710303	101710303	+	Missense_Mutation	SNP	G	G	A	rs143587652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101710303G>A	ENST00000251127.6	-	43	5092	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1671					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGGCAGACGCCACTGCCCA	0.542																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(5011-5013)Cgt>Tgt		sodium leak channel, non-selective		G	CYS/ARG	0,4406		0,0,2203	91.0	93.0	92.0		5011	4.4	1.0	13	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NALCN	NM_052867.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1671/1739	101710303	1,13005	2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101710303G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.5011C>T	13.37:g.101710303G>A	ENSP00000251127:p.Arg1671Cys					NALCN-AS1_ENST00000457843.1_RNA	p.R1671C	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			43	5092	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1671					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.5011C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587370	0.66105	0.0	1.16E-4	ENSG00000102452	ENST00000251127	D	0.97994	-4.65	5.29	4.45	0.53987	.	0.103999	0.64402	N	0.000003	D	0.93223	0.7841	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	B	0.44278	0.445	D	0.93482	0.6828	10	0.66056	D	0.02	.	11.949	0.52944	0.1454:0.0:0.8546:0.0	.	1671	Q8IZF0	NALCN_HUMAN	C	1671	ENSP00000251127:R1671C	ENSP00000251127:R1671C	R	-	1	0	NALCN	100508304	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	4.238000	0.58688	1.221000	0.43506	0.655000	0.94253	CGT		0.542	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		51	343	0	0	0	1	0	51	343				
ARID3C	138715	broad.mit.edu	37	9	34621468	34621468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34621468C>A	ENST00000378909.2	-	7	1318	c.1226G>T	c.(1225-1227)aGc>aTc	p.S409I	DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	409	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGGCAAGATGCTGGAAGGGGG	0.622																																						ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(1225-1227)aGc>aTc		AT rich interactive domain 3C (BRIGHT-like)							24.0	28.0	27.0					9																	34621468		2203	4300	6503	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34621468C>A		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1226G>T	9.37:g.34621468C>A	ENSP00000368189:p.Ser409Ile						p.S409I	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	7	1318	-	all_epithelial(49;0.102)		409			Pro-rich.			Missense_Mutation	SNP	ENST00000378909.2	37	c.1226G>T	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632287	0.29068	.	.	ENSG00000205143	ENST00000378909	T	0.64438	-0.1	4.37	2.52	0.30459	.	0.251286	0.28688	N	0.014467	T	0.48677	0.1513	L	0.44542	1.39	0.28118	N	0.930726	P	0.42039	0.769	B	0.39185	0.293	T	0.42916	-0.9423	10	0.42905	T	0.14	-6.1084	6.6536	0.22975	0.0:0.7823:0.0:0.2177	.	409	A6NKF2	ARI3C_HUMAN	I	409	ENSP00000368189:S409I	ENSP00000368189:S409I	S	-	2	0	ARID3C	34611468	0.001000	0.12720	0.636000	0.29352	0.735000	0.41995	0.277000	0.18734	0.593000	0.29745	0.549000	0.68633	AGC		0.622	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		9	183	1	0	0.00448238	1	0.00451339	9	183				
ZNF99	7652	broad.mit.edu	37	19	22941668	22941668	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941668T>G	ENST00000596209.1	-	4	1133	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K257T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTAAAAGCTTTGCCACATTC	0.373																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(769-771)aAa>aCa		zinc finger protein 99							52.0	56.0	55.0					19																	22941668		1996	4203	6199	SO:0001583	missense	7652							g.chr19:22941668T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1043A>C	19.37:g.22941668T>G	ENSP00000472969:p.Lys348Thr					ZNF99_ENST00000596209.1_Missense_Mutation_p.K348T	p.K257T							5	769	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.770A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	11.91	1.778440	0.31502	.	.	ENSG00000213973	ENST00000397104	T	0.27890	1.64	1.52	0.405	0.16361	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49525	0.1562	M	0.81802	2.56	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33854	-0.9852	9	0.66056	D	0.02	.	2.9213	0.05770	0.0:0.1716:0.2563:0.572	.	257	A8MXY4	ZNF99_HUMAN	T	257	ENSP00000380293:K257T	ENSP00000380293:K257T	K	-	2	0	ZNF99	22733508	0.009000	0.17119	0.001000	0.08648	0.095000	0.18619	1.634000	0.37123	-0.076000	0.12775	0.370000	0.22315	AAA		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		14	390	0	0	0	1	0	14	390				
ERCC6L2	375748	broad.mit.edu	37	9	98669505	98669505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98669505C>T	ENST00000288985.7	+	4	1078	c.773C>T	c.(772-774)gCt>gTt	p.A258V	RNA5SP289_ENST00000362332.1_RNA|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A69V|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	258	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TGTGAAATTGCTCTAACAACT	0.343																																						ENST00000288985.7																			0											c.(772-774)gCt>gTt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							99.0	95.0	97.0					9																	98669505		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98669505C>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.773C>T	9.37:g.98669505C>T	ENSP00000288985:p.Ala258Val					ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A69V|ERCC6L2_ENST00000466840.1_3'UTR	p.A258V	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			4	1078	+			258			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.773C>T	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608227	0.46527	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	D;D	0.89552	-2.53;-2.53	5.35	5.35	0.76521	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000047	T	0.68815	0.3042	N	0.00337	-1.62	0.80722	D	1	B;P	0.43231	0.285;0.801	B;B	0.39339	0.102;0.297	T	0.76865	-0.2801	10	0.18276	T	0.48	-17.7664	19.075	0.93158	0.0:1.0:0.0:0.0	.	69;258	Q5T890-2;Q5T890	.;RAD26_HUMAN	V	258;69	ENSP00000288985:A258V;ENSP00000416286:A69V	ENSP00000288985:A258V	A	+	2	0	C9orf102	97709326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.110000	0.57831	2.502000	0.84385	0.591000	0.81541	GCT		0.343	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		69	284	0	0	0	1	0	69	284				
CDK14	5218	broad.mit.edu	37	7	90741870	90741870	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90741870A>G	ENST00000380050.3	+	13	1299	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	CDK14_ENST00000406263.1_Missense_Mutation_p.N344D|CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000265741.3_Missense_Mutation_p.N372D			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGCTATGTGAACCATGCAGA	0.443																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(1030-1032)Aac>Gac		cyclin-dependent kinase 14							134.0	142.0	139.0					7																	90741870		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90741870A>G		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1168A>G	7.37:g.90741870A>G	ENSP00000369390:p.Asn390Asp					CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000265741.3_Missense_Mutation_p.N372D|CDK14_ENST00000380050.3_Missense_Mutation_p.N390D	p.N344D			O94921	CDK14_HUMAN			12	1472	+			390			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.1030A>G		.	.	.	.	.	.	.	.	.	.	A	9.628	1.135592	0.21123	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.97	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057435	0.64402	D	0.000003	T	0.39989	0.1099	N	0.11724	0.165	0.39852	D	0.973252	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.12156	0.007;0.001;0.007	T	0.21965	-1.0230	10	0.35671	T	0.21	-17.852	7.7303	0.28783	0.8074:0.0:0.0671:0.1255	.	261;372;390	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	D	390;372;344;261	ENSP00000369390:N390D;ENSP00000265741:N372D;ENSP00000385034:N344D;ENSP00000398936:N261D	ENSP00000265741:N372D	N	+	1	0	CDK14	90579806	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.179000	0.65043	1.056000	0.40484	0.533000	0.62120	AAC		0.443	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		178	741	0	0	0	1	0	178	741				
NISCH	11188	broad.mit.edu	37	3	52514216	52514216	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52514216G>A	ENST00000479054.1	+	14	1505	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	NISCH_ENST00000488380.1_Missense_Mutation_p.R478Q|NISCH_ENST00000345716.4_Missense_Mutation_p.R478Q|NISCH_ENST00000420808.2_Missense_Mutation_p.R478Q			Q9Y2I1	NISCH_HUMAN	nischarin	478	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GAAGACTCCCGGCTCTCAGCT	0.637																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(1432-1434)cGg>cAg		nischarin							80.0	77.0	78.0					3																	52514216		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52514216G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1433G>A	3.37:g.52514216G>A	ENSP00000418232:p.Arg478Gln					NISCH_ENST00000420808.2_Missense_Mutation_p.R478Q|NISCH_ENST00000488380.1_Missense_Mutation_p.R478Q|NISCH_ENST00000479054.1_Missense_Mutation_p.R478Q	p.R478Q	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	13	1567	+			478			Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.1433G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291776	0.59976	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.08008	3.14;3.14;3.19;3.15	5.7	4.82	0.62117	.	0.218004	0.38837	N	0.001547	T	0.14874	0.0359	L	0.32530	0.975	0.33533	D	0.593874	D;B	0.76494	0.999;0.123	P;B	0.61275	0.886;0.008	T	0.17228	-1.0376	10	0.31617	T	0.26	-24.7556	11.7287	0.51724	0.1419:0.0:0.8581:0.0	.	478;478	Q9Y2I1;C9J715	NISCH_HUMAN;.	Q	478	ENSP00000418232:R478Q;ENSP00000339958:R478Q;ENSP00000417812:R478Q;ENSP00000392484:R478Q	ENSP00000339958:R478Q	R	+	2	0	NISCH	52489256	1.000000	0.71417	0.990000	0.47175	0.061000	0.15899	2.423000	0.44705	1.424000	0.47217	0.591000	0.81541	CGG		0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		13	612	0	0	0	1	0	13	612				
LTK	4058	broad.mit.edu	37	15	41805286	41805286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41805286C>A	ENST00000263800.6	-	2	172	c.76G>T	c.(76-78)Gag>Tag	p.E26*	LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*|LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	26					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGAAAAGTCTCCTGGGACCCC	0.617										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(76-78)Gag>Tag		leukocyte receptor tyrosine kinase							16.0	21.0	19.0					15																	41805286		2185	4286	6471	SO:0001587	stop_gained	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41805286C>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.76G>T	15.37:g.41805286C>A	ENSP00000263800:p.Glu26*	TSP Lung(18;0.14)				LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*|LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*|LTK_ENST00000561619.1_Intron	p.E26*	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	2	172	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	26					A6NNJ8|B4DL89|E9PFX4	Nonsense_Mutation	SNP	ENST00000263800.6	37	c.76G>T	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818287	0.71028	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	.	.	.	4.15	-1.42	0.08913	.	1.747210	0.04129	U	0.317719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9101	0.29785	0.0:0.5192:0.0:0.4808	.	.	.	.	X	26	.	ENSP00000263800:E26X	E	-	1	0	LTK	39592578	0.011000	0.17503	0.001000	0.08648	0.225000	0.24961	0.468000	0.22051	-0.355000	0.08199	-0.258000	0.10820	GAG		0.617	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			20	93	1	0	1.33834e-09	1	1.40959e-09	20	93				
USH1C	10083	broad.mit.edu	37	11	17545008	17545008	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17545008G>A	ENST00000318024.4	-	10	885	c.777C>T	c.(775-777)gtC>gtT	p.V259V	USH1C_ENST00000005226.7_Silent_p.V259V|USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000527720.1_Silent_p.V228V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	259	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATTGACTTCGACAATCTGGT	0.537																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(775-777)gtC>gtT		Usher syndrome 1C (autosomal recessive, severe)							122.0	106.0	111.0					11																	17545008		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17545008G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.777C>T	11.37:g.17545008G>A						USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000318024.4_Silent_p.V259V|USH1C_ENST00000527720.1_Silent_p.V228V	p.V259V	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			10	776	-			259			PDZ 2.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.777C>T	CCDS31438.1																																																																																				0.537	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		39	161	0	0	0	1	0	39	161				
LRP1	4035	broad.mit.edu	37	12	57587035	57587035	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587035C>T	ENST00000243077.3	+	46	8098	c.7632C>T	c.(7630-7632)tgC>tgT	p.C2544C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2544	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTGACCTGCGACGGCGTCC	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7630-7632)tgC>tgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						98.0	80.0	86.0					12																	57587035		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587035C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7632C>T	12.37:g.57587035C>T							p.C2544C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	46	8098	+			2544			LDL-receptor class A 11.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.7632C>T	CCDS8932.1																																																																																				0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		76	338	0	0	0	1	0	76	338				
RNASE13	440163	broad.mit.edu	37	14	21502136	21502136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21502136C>A	ENST00000382951.3	-	2	449	c.312G>T	c.(310-312)caG>caT	p.Q104H	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	104						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGAGGGAATCCTGGGTGAGTG	0.498																																						ENST00000382951.3																			0				cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12						c.(310-312)caG>caT		ribonuclease, RNase A family, 13 (non-active)							254.0	205.0	222.0					14																	21502136		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502136C>A	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.312G>T	14.37:g.21502136C>A	ENSP00000372410:p.Gln104His					NDRG2_ENST00000403829.3_Intron	p.Q104H	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	449	-	all_cancers(95;0.000759)		104						Missense_Mutation	SNP	ENST00000382951.3	37	c.312G>T	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050194	0.19827	.	.	ENSG00000206150	ENST00000382951	T	0.73258	-0.73	5.42	3.32	0.38043	Ribonuclease A, domain (3);	1.234980	0.05590	N	0.574488	T	0.53012	0.1770	N	0.12182	0.205	0.09310	N	1	B	0.19073	0.033	B	0.25405	0.06	T	0.41106	-0.9527	10	0.33940	T	0.23	-46.6539	5.426	0.16425	0.0:0.6805:0.208:0.1115	.	104	Q5GAN3	RNS13_HUMAN	H	104	ENSP00000372410:Q104H	ENSP00000372410:Q104H	Q	-	3	2	RNASE13	20571976	0.000000	0.05858	0.026000	0.17262	0.004000	0.04260	0.439000	0.21575	2.545000	0.85829	0.650000	0.86243	CAG		0.498	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			51	496	1	0	3.76525e-18	1	4.17087e-18	51	496				
P4HA2	8974	broad.mit.edu	37	5	131546055	131546055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131546055C>T	ENST00000401867.1	-	7	1199	c.631G>A	c.(631-633)Gac>Aac	p.D211N	P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N|P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	211					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGAGGTAGTCCAGCACCTGT	0.567																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(631-633)Gac>Aac		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						202.0	185.0	191.0					5																	131546055		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131546055C>T	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.631G>A	5.37:g.131546055C>T	ENSP00000384999:p.Asp211Asn					P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N|P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N	p.D211N			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1199	-		all_cancers(142;0.103)|Breast(839;0.198)	211					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.631G>A	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842700	0.97016	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.81;0.8;0.81;0.8;0.81;0.8	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.77112	-0.2708	10	0.87932	D	0	-0.8403	20.3151	0.98650	0.0:1.0:0.0:0.0	.	211;211	O15460;O15460-2	P4HA2_HUMAN;.	N	211	ENSP00000384999:D211N;ENSP00000368379:D211N;ENSP00000166534:D211N;ENSP00000353772:D211N;ENSP00000368398:D211N;ENSP00000368394:D211N	ENSP00000166534:D211N	D	-	1	0	P4HA2	131573954	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.776000	0.85560	2.809000	0.96659	0.467000	0.42956	GAC		0.567	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		124	673	0	0	0	1	0	124	673				
ZNF497	162968	broad.mit.edu	37	19	58867645	58867645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58867645G>A	ENST00000311044.3	-	3	1545	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCGACTTGCGCACGAAGGCC	0.682																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(1357-1359)Cgc>Tgc		zinc finger protein 497							12.0	14.0	14.0					19																	58867645		2197	4297	6494	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867645G>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1357C>T	19.37:g.58867645G>A	ENSP00000311183:p.Arg453Cys					ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|CTD-2619J13.8_ENST00000599109.1_RNA	p.R453C	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1545	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	453					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.1357C>T	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778249	0.49786	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.30182	1.54;1.54	1.14	-2.29	0.06805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35740	0.0942	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.21861	-1.0233	9	0.54805	T	0.06	.	1.8909	0.03247	0.1423:0.1924:0.4699:0.1954	.	453	Q6ZNH5	ZN497_HUMAN	C	453	ENSP00000311183:R453C;ENSP00000402815:R453C	ENSP00000311183:R453C	R	-	1	0	ZNF497	63559457	0.000000	0.05858	0.005000	0.12908	0.374000	0.29953	-1.391000	0.02525	-1.225000	0.02578	0.195000	0.17529	CGC		0.682	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		11	59	0	0	0	1	0	11	59				
ASUN	55726	broad.mit.edu	37	12	27089588	27089588	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27089588G>A	ENST00000261191.7	-	2	685	c.149C>T	c.(148-150)tCa>tTa	p.S50L	FGFR1OP2_ENST00000546072.1_5'Flank|FGFR1OP2_ENST00000229395.3_5'Flank|FGFR1OP2_ENST00000327214.5_5'Flank|ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	50					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGTCCACAATGATTTAGATAT	0.383																																						ENST00000261191.7																			0											c.(148-150)tCa>tTa		asunder spermatogenesis regulator							91.0	94.0	93.0					12																	27089588		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27089588G>A	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.149C>T	12.37:g.27089588G>A	ENSP00000261191:p.Ser50Leu					ASUN_ENST00000539625.1_Intron	p.S50L	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			2	685	-			50					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.149C>T	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846618	0.91277	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.51817	0.69;0.69;0.69	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.75615	2.305	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.72991	-0.4123	10	0.87932	D	0	-13.228	19.7937	0.96469	0.0:0.0:1.0:0.0	.	50	Q9NVM9	M89BB_HUMAN	L	50	ENSP00000261191:S50L;ENSP00000446183:S50L;ENSP00000443066:S50L	ENSP00000261191:S50L	S	-	2	0	C12orf11	26980855	1.000000	0.71417	0.977000	0.42913	0.625000	0.37756	9.388000	0.97237	2.749000	0.94314	0.655000	0.94253	TCA		0.383	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		7	317	0	0	0	1	0	7	317				
KIAA0100	9703	broad.mit.edu	37	17	26965068	26965068	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26965068A>G	ENST00000528896.2	-	14	1631	c.1557T>C	c.(1555-1557)gaT>gaC	p.D519D	KIAA0100_ENST00000389003.3_Silent_p.D376D|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.D376D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	519						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAAAAAGGGTATCTGACTGGG	0.478																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1555-1557)gaT>gaC		KIAA0100							60.0	60.0	60.0					17																	26965068		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26965068A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1557T>C	17.37:g.26965068A>G						KIAA0100_ENST00000389003.3_Silent_p.D376D|KIAA0100_ENST00000544884.1_Silent_p.D376D	p.D519D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			14	1631	-	Lung NSC(42;0.00431)		519					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.1557T>C	CCDS32595.1																																																																																				0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		7	203	0	0	0	1	0	7	203				
KCTD12	115207	broad.mit.edu	37	13	77459400	77459400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77459400C>T	ENST00000377474.2	-	1	1125	c.884G>A	c.(883-885)aGc>aAc	p.S295N	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	295					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GCCCGTGGAGCTGCACGCCAC	0.622											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377474.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(883-885)aGc>aAc		potassium channel tetramerization domain containing 12							58.0	46.0	50.0					13																	77459400		2203	4300	6503	SO:0001583	missense	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77459400C>T	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.884G>A	13.37:g.77459400C>T	ENSP00000366694:p.Ser295Asn		OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1175	KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N	p.S295N	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	1	1125	-		Breast(118;0.212)	295						Missense_Mutation	SNP	ENST00000377474.2	37	c.884G>A	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222536	0.09863	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.39997	1.05;1.05	4.84	4.84	0.62591	.	0.117523	0.85682	N	0.000000	T	0.23054	0.0557	N	0.16098	0.37	0.44719	D	0.997712	B	0.18166	0.026	B	0.15052	0.012	T	0.07986	-1.0744	10	0.02654	T	1	.	14.0984	0.65039	0.0:0.802:0.198:0.0	.	295	Q96CX2	KCD12_HUMAN	N	295	ENSP00000366694:S295N;ENSP00000317141:S295N	ENSP00000317141:S295N	S	-	2	0	KCTD12	76357401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.987000	0.29603	2.399000	0.81585	0.462000	0.41574	AGC		0.622	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		31	117	0	0	0	1	0	31	117				
CHD3	1107	broad.mit.edu	37	17	7810694	7810694	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7810694A>G	ENST00000330494.7	+	32	4962	c.4812A>G	c.(4810-4812)ccA>ccG	p.P1604P	CHD3_ENST00000380358.4_Silent_p.P1663P|CHD3_ENST00000358181.4_Silent_p.P1604P|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1604	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCCAGCCCCATCACTTGGGG	0.647																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(4987-4989)ccA>ccG		chromodomain helicase DNA binding protein 3							37.0	40.0	39.0					17																	7810694		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7810694A>G	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4812A>G	17.37:g.7810694A>G						CHD3_ENST00000358181.4_Silent_p.P1604P|CHD3_ENST00000330494.7_Silent_p.P1604P	p.P1663P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			32	4990	+		Prostate(122;0.202)	1604			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.4989A>G	CCDS32554.1																																																																																				0.647	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		40	174	0	0	0	1	0	40	174				
DEFA4	1669	broad.mit.edu	37	8	6794269	6794269	+	Missense_Mutation	SNP	G	G	T	rs554641481		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6794269G>T	ENST00000297435.2	-	2	277	c.153C>A	c.(151-153)agC>agA	p.S51R		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	51					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAAGAGCAGAGCTTTTATCCC	0.537																																						ENST00000297435.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(151-153)agC>agA		defensin, alpha 4, corticostatin							93.0	90.0	91.0					8																	6794269		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794269G>T	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.153C>A	8.37:g.6794269G>T	ENSP00000297435:p.Ser51Arg						p.S51R	NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	277	-			51					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.153C>A	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	0.745	-0.775024	0.02951	.	.	ENSG00000164821	ENST00000297435	T	0.32988	1.43	1.66	1.66	0.24008	Defensin propeptide (1);	0.817561	0.09937	N	0.736416	T	0.15392	0.0371	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.37091	0.241	T	0.09530	-1.0670	9	0.12103	T	0.63	.	6.8453	0.23984	0.0:0.0:1.0:0.0	.	51	P12838	DEF4_HUMAN	R	51	ENSP00000297435:S51R	ENSP00000297435:S51R	S	-	3	2	DEFA4	6781679	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.162000	0.10012	1.231000	0.43661	0.558000	0.71614	AGC		0.537	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		80	365	1	0	1.52223e-32	1	1.79814e-32	80	365				
SLC25A39	51629	broad.mit.edu	37	17	42398522	42398522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398522G>T	ENST00000377095.5	-	8	714	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000225308.8_Missense_Mutation_p.L191M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	199					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGGCACCCAGCTCCCGGTAC	0.632																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(571-573)Ctg>Atg		solute carrier family 25, member 39							39.0	35.0	36.0					17																	42398522		2203	4299	6502	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42398522G>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.595C>A	17.37:g.42398522G>T	ENSP00000366299:p.Leu199Met					SLC25A39_ENST00000377095.5_Missense_Mutation_p.L199M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M	p.L191M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	745	-		Prostate(33;0.0233)	199					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.571C>A	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974157	0.18736	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80033	-1.33;-1.33;-1.33	5.31	1.23	0.21249	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000003	T	0.79981	0.4540	L	0.40543	1.245	0.52501	D	0.999955	P;D;P	0.61697	0.767;0.99;0.88	P;D;B	0.63957	0.525;0.92;0.444	T	0.72921	-0.4145	10	0.21014	T	0.42	-23.3157	8.4608	0.32927	0.369:0.0:0.631:0.0	.	176;199;191	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	191;199;176	ENSP00000225308:L191M;ENSP00000366299:L199M;ENSP00000444540:L176M	ENSP00000225308:L191M	L	-	1	2	SLC25A39	39754048	1.000000	0.71417	0.856000	0.33681	0.045000	0.14185	1.822000	0.39052	0.118000	0.18165	-0.137000	0.14449	CTG		0.632	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		15	183	1	0	2.32078e-09	1	2.442e-09	15	183				
GLRX3	10539	broad.mit.edu	37	10	131973336	131973336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131973336G>A	ENST00000368644.1	+	10	962	c.940G>A	c.(940-942)Gga>Aga	p.G314R	GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	314	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GCTGGTGGGAGGATTGGATAT	0.393																																						ENST00000368644.1																			0				endometrium(1)|large_intestine(5)|lung(7)	13						c.(940-942)Gga>Aga		glutaredoxin 3							127.0	127.0	127.0					10																	131973336		2203	4300	6503	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131973336G>A	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.940G>A	10.37:g.131973336G>A	ENSP00000357633:p.Gly314Arg					GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	p.G314R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	10	962	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	314			Glutaredoxin 2.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.940G>A	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253560	0.80135	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.29142	1.58;1.58	4.17	4.17	0.49024	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	H	0.99143	4.445	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.85132	0.0975	10	0.87932	D	0	-15.7007	15.2207	0.73308	0.0:0.0:1.0:0.0	.	314	O76003	GLRX3_HUMAN	R	314	ENSP00000330836:G314R;ENSP00000357633:G314R	ENSP00000330836:G314R	G	+	1	0	GLRX3	131863326	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.721000	0.91446	2.171000	0.68590	0.561000	0.74099	GGA		0.393	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		31	190	0	0	0	1	0	31	190				
AHNAK	79026	broad.mit.edu	37	11	62285051	62285051	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285051A>C	ENST00000378024.4	-	5	17112	c.16838T>G	c.(16837-16839)tTt>tGt	p.F5613C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5613	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCCCAGCAAACTTAGATGT	0.542																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16837-16839)tTt>tGt		AHNAK nucleoprotein							117.0	133.0	127.0					11																	62285051		2199	4297	6496	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285051A>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16838T>G	11.37:g.62285051A>C	ENSP00000367263:p.Phe5613Cys					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F5613C	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17112	-		Melanoma(852;0.155)	5613			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16838T>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329771	0.24167	.	.	ENSG00000124942	ENST00000378024	T	0.00922	5.54	4.85	3.73	0.42828	.	0.956702	0.08511	U	0.934902	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.60789	0.879	T	0.57470	-0.7806	10	0.41790	T	0.15	0.0	8.3362	0.32217	0.9051:0.0:0.0949:0.0	.	5613	Q09666	AHNK_HUMAN	C	5613	ENSP00000367263:F5613C	ENSP00000367263:F5613C	F	-	2	0	AHNAK	62041627	0.127000	0.22367	0.001000	0.08648	0.394000	0.30568	5.271000	0.65553	0.709000	0.31976	0.519000	0.50382	TTT		0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		199	764	0	0	0	1	0	199	764				
ATP2C1	27032	broad.mit.edu	37	3	130716497	130716497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130716497G>A	ENST00000510168.1	+	25	2841	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H	ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	764					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAACCTCCTCGCAACTGGAAA	0.343									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(2290-2292)cGc>cAc		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						144.0	146.0	146.0					3																	130716497		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130716497G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2291G>A	3.37:g.130716497G>A	ENSP00000427461:p.Arg764His					ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H	p.R764H			P98194	AT2C1_HUMAN			25	2841	+			764					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.2291G>A	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.566092|5.566092	0.96540|0.96540	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97791	.|-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.87|5.87	5.87|5.87	0.94306|0.94306	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99217|0.99217	0.9728|0.9728	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;0.999;1.0;1.0	D|D	0.98977|0.98977	1.0803|1.0803	5|10	.|0.72032	.|D	.|0.01	.|.	20.1991|20.1991	0.98252|0.98252	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|798;759;798;764;798;764;764	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	T|H	718;282|748;709;748;798;759;764;764;748;748;764;764;764;764;763	.|ENSP00000423774:R748H;ENSP00000425320:R709H;ENSP00000421326:R748H;ENSP00000376914:R798H;ENSP00000432956:R759H;ENSP00000427461:R764H;ENSP00000424783:R764H;ENSP00000423330:R748H;ENSP00000422872:R748H;ENSP00000329664:R764H;ENSP00000395809:R764H;ENSP00000352665:R764H;ENSP00000402677:R764H	.|ENSP00000329664:R764H	A|R	+|+	1|2	0|0	ATP2C1|ATP2C1	132199187|132199187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.861000|9.861000	0.99562|0.99562	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.343	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		90	466	0	0	0	1	0	90	466				
LRP1B	53353	broad.mit.edu	37	2	141665573	141665573	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141665573A>G	ENST00000389484.3	-	22	4364	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1131	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAACTGTCACAGTCATCTT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3391-3393)tgT>tgC		low density lipoprotein receptor-related protein 1B							197.0	160.0	173.0					2																	141665573		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665573A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3393T>C	2.37:g.141665573A>G		TSP Lung(27;0.18)					p.C1131C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4364	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1131			LDL-receptor class A 9.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3393T>C	CCDS2182.1																																																																																				0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		125	297	0	0	0	1	0	125	297				
DCLK1	9201	broad.mit.edu	37	13	36700099	36700099	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36700099A>G	ENST00000360631.3	-	2	387	c.176T>C	c.(175-177)gTt>gCt	p.V59A	DCLK1_ENST00000255448.4_Missense_Mutation_p.V59A|DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	59	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATAGAAACGAACTTTCTTGGC	0.582																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(175-177)gTt>gCt		doublecortin-like kinase 1							94.0	85.0	88.0					13																	36700099		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700099A>G	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.176T>C	13.37:g.36700099A>G	ENSP00000353846:p.Val59Ala					DCLK1_ENST00000360631.3_Missense_Mutation_p.V59A|DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A	p.V59A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	387	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	59			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.176T>C		.	.	.	.	.	.	.	.	.	.	A	15.84	2.953052	0.53293	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.90324	-2.65;-2.65;-2.65	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	M	0.79258	2.445	0.80722	D	1	B	0.13145	0.007	B	0.30316	0.114	D	0.87969	0.2735	10	0.30078	T	0.28	.	15.9073	0.79439	1.0:0.0:0.0:0.0	.	59	O15075-2	.	A	59	ENSP00000255448:V59A;ENSP00000353846:V59A;ENSP00000369222:V59A	ENSP00000255448:V59A	V	-	2	0	DCLK1	35598099	1.000000	0.71417	0.976000	0.42696	0.816000	0.46133	9.127000	0.94417	2.158000	0.67659	0.528000	0.53228	GTT		0.582	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		99	386	0	0	0	1	0	99	386				
PTOV1	53635	broad.mit.edu	37	19	50357694	50357694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50357694C>A	ENST00000601675.1	+	2	307	c.203C>A	c.(202-204)cCc>cAc	p.P68H	PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000391842.1_Missense_Mutation_p.P68H|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|PTOV1_ENST00000598325.1_3'UTR|PTOV1-AS1_ENST00000596521.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	68					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCACTGGGTCCCATCGGTCCC	0.667																																						ENST00000391842.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(202-204)cCc>cAc		prostate tumor overexpressed 1							94.0	105.0	101.0					19																	50357694		2203	4300	6503	SO:0001583	missense	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50357694C>A	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.203C>A	19.37:g.50357694C>A	ENSP00000472816:p.Pro68His					AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H|PTOV1_ENST00000601675.1_Missense_Mutation_p.P68H|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|PTOV1_ENST00000598325.1_3'UTR	p.P68H	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	2	373	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	68					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	c.203C>A	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403721	0.62288	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.92	3.92	0.45320	.	0.184196	0.34002	U	0.004353	T	0.50205	0.1602	N	0.19112	0.55	0.33612	D	0.603735	D;D;D	0.76494	0.999;0.994;0.994	P;P;D	0.69479	0.907;0.897;0.964	T	0.62909	-0.6754	9	0.87932	D	0	-35.9482	11.7343	0.51757	0.0:1.0:0.0:0.0	.	36;68;36	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	H	36;68	.	ENSP00000221557:P36H	P	+	2	0	PTOV1	55049506	0.820000	0.29190	1.000000	0.80357	0.914000	0.54420	2.292000	0.43549	2.476000	0.83614	0.563000	0.77884	CCC		0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		34	1031	1	0	2.70662e-09	1	2.84656e-09	34	1031				
MYO7A	4647	broad.mit.edu	37	11	76912632	76912632	+	Silent	SNP	C	C	T	rs181573957	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912632C>T	ENST00000409709.3	+	36	5264	c.4992C>T	c.(4990-4992)acC>acT	p.T1664T	MYO7A_ENST00000458637.2_Silent_p.T1626T|MYO7A_ENST00000409619.2_Silent_p.T1615T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1664	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTTCCCCACCGACAGTGTGT	0.612													C|||	13	0.00259585	0.0098	0.0	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0					ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4990-4992)acC>acT		myosin VIIA		C	,	42,4240		0,42,2099	71.0	77.0	75.0		4992,4878	-9.2	0.1	11		75	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	0,42,6333	TT,TC,CC		0.0,0.9809,0.3294	,	1664/2216,1626/2176	76912632	42,12708	2141	4234	6375	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912632C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4992C>T	11.37:g.76912632C>T						MYO7A_ENST00000409619.2_Silent_p.T1615T|MYO7A_ENST00000458637.2_Silent_p.T1626T	p.T1664T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5264	+			1664			SH3.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.4992C>T	CCDS53683.1																																																																																				0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		37	184	0	0	0	1	0	37	184				
SRGAP1	57522	broad.mit.edu	37	12	64456834	64456834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64456834C>T	ENST00000355086.3	+	7	1463	c.939C>T	c.(937-939)agC>agT	p.S313S	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S273S|SRGAP1_ENST00000357825.3_Silent_p.S313S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	313	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGCCCAGGAGCGATAAGCAGA	0.443																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(937-939)agC>agT		SLIT-ROBO Rho GTPase activating protein 1							138.0	126.0	130.0					12																	64456834		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64456834C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.939C>T	12.37:g.64456834C>T						RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.S313S|SRGAP1_ENST00000543397.1_Silent_p.S273S	p.S313S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	7	1463	+			313					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.939C>T	CCDS8967.1																																																																																				0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			71	303	0	0	0	1	0	71	303				
RPP40	10799	broad.mit.edu	37	6	5000852	5000852	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5000852T>C	ENST00000380051.2	-	3	326	c.282A>G	c.(280-282)gcA>gcG	p.A94A	RPP40_ENST00000319533.5_Intron|RPP40_ENST00000464646.1_Silent_p.A34A	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	94					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGTATGTTAGTGCATAGCAAG	0.299																																						ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(280-282)gcA>gcG		ribonuclease P/MRP 40kDa subunit							75.0	83.0	80.0					6																	5000852		2203	4300	6503	SO:0001819	synonymous_variant	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5000852T>C	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.282A>G	6.37:g.5000852T>C						RPP40_ENST00000319533.5_Intron|RPP40_ENST00000464646.1_Silent_p.A34A	p.A94A	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			3	326	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	94					Q5VX97|Q8WVK8	Silent	SNP	ENST00000380051.2	37	c.282A>G	CCDS34333.1																																																																																				0.299	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		67	263	0	0	0	1	0	67	263				
CLK1	1195	broad.mit.edu	37	2	201722796	201722796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722796C>A	ENST00000321356.4	-	6	700	c.565G>T	c.(565-567)Gca>Tca	p.A189S	CLK1_ENST00000434813.2_Missense_Mutation_p.A231S|CLK1_ENST00000409769.2_Missense_Mutation_p.A12S|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTTTTACTGCTACATGTCTA	0.378																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(691-693)Gca>Tca		CDC-like kinase 1							155.0	146.0	149.0					2																	201722796		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722796C>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.565G>T	2.37:g.201722796C>A	ENSP00000326830:p.Ala189Ser					CLK1_ENST00000321356.4_Missense_Mutation_p.A189S|CLK1_ENST00000409769.2_Missense_Mutation_p.A12S	p.A231S	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			6	1025	-			189			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.691G>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780641	0.90195	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.56275	0.47;0.47;0.47	5.6	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.85491	0.1185	10	0.87932	D	0	.	15.5631	0.76266	0.1385:0.8615:0.0:0.0	.	231;159;189;12	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	S	189;159;12;231	ENSP00000326830:A189S;ENSP00000386358:A12S;ENSP00000394734:A231S	ENSP00000326830:A189S	A	-	1	0	CLK1	201431041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.626000	0.88956	0.563000	0.77884	GCA		0.378	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			71	412	1	0	1.05635e-38	1	1.2743e-38	71	412				
FDFT1	2222	broad.mit.edu	37	8	11660380	11660380	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11660380C>A	ENST00000220584.4	+	1	261	c.39C>A	c.(37-39)ttC>ttA	p.F13L	FDFT1_ENST00000528812.1_5'Flank|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L|FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|RP11-297N6.4_ENST00000533405.1_5'Flank	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	13					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGAAGAGTTCTACAACCTGG	0.682																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(37-39)ttC>ttA		farnesyl-diphosphate farnesyltransferase 1							47.0	39.0	42.0					8																	11660380		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11660380C>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.39C>A	8.37:g.11660380C>A	ENSP00000220584:p.Phe13Leu					FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L|FDFT1_ENST00000538689.1_Intron	p.F13L	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	1	261	+	all_epithelial(15;0.234)		13					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.39C>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896273	0.52121	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900	T;T;T;T	0.35236	1.32;1.89;1.86;1.87	5.04	4.17	0.49024	.	0.183845	0.45867	D	0.000328	T	0.17323	0.0416	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.09378	-1.0677	10	0.02654	T	1	-27.1942	8.0589	0.30621	0.1569:0.7621:0.0:0.081	.	13;13;13	B4DJE5;E9PNM1;P37268	.;.;FDFT_HUMAN	L	13	ENSP00000431852:F13L;ENSP00000220584:F13L;ENSP00000390367:F13L;ENSP00000434714:F13L	ENSP00000220584:F13L	F	+	3	2	FDFT1	11697789	0.997000	0.39634	1.000000	0.80357	0.931000	0.56810	0.312000	0.19397	1.266000	0.44231	0.485000	0.47835	TTC		0.682	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			25	71	1	0	2.27525e-19	1	2.53767e-19	25	71				
PDE4A	5141	broad.mit.edu	37	19	10578270	10578270	+	Silent	SNP	C	C	T	rs373634594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10578270C>T	ENST00000352831.6	+	15	2744	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000380702.2_Silent_p.G856G|PDE4A_ENST00000592685.1_Silent_p.G856G|PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000344979.3_Silent_p.G639G	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	878					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTCCTGGTGGCGGGGGGTCAG	0.662																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2566-2568)ggC>ggT		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)		,,,	0,4188		0,0,2094	37.0	39.0	39.0		2634,2556,2451,1917	-1.6	0.0	19		39	1,8261		0,1,4130	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE4A	NM_001111307.1,NM_001111308.1,NM_001111309.1,NM_006202.2	,,,	0,1,6224	TT,TC,CC		0.0121,0.0,0.0080	,,,	878/887,852/861,817/826,639/648	10578270	1,12449	2094	4131	6225	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578270C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2634C>T	19.37:g.10578270C>T						PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000592685.1_Silent_p.G856G|PDE4A_ENST00000344979.3_Silent_p.G639G|PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000352831.6_Silent_p.G878G	p.G856G			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2568	+			878					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.2568C>T	CCDS45961.1																																																																																				0.662	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			73	391	0	0	0	1	0	73	391				
FAM71A	149647	broad.mit.edu	37	1	212799202	212799202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212799202C>T	ENST00000294829.3	+	1	1414	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	328	Ala-rich.					nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCAACATGGCCCTTGCAGGC	0.617																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(982-984)gCc>gTc		family with sequence similarity 71, member A							45.0	49.0	48.0					1																	212799202		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212799202C>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.983C>T	1.37:g.212799202C>T	ENSP00000294829:p.Ala328Val					RP11-338C15.5_ENST00000427949.1_RNA	p.A328V	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1414	+			328			Ala-rich.		Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.983C>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422128	0.25639	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.04603	3.59	3.47	1.54	0.23209	.	.	.	.	.	T	0.04227	0.0117	L	0.51422	1.61	0.09310	N	1	P	0.39809	0.689	B	0.33254	0.16	T	0.39231	-0.9624	9	0.36615	T	0.2	-4.0201	3.9602	0.09407	0.2355:0.6397:0.0:0.1248	.	328	Q8IYT1	FA71A_HUMAN	V	328;103	ENSP00000294829:A328V	ENSP00000294829:A328V	A	+	2	0	FAM71A	210865825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.087000	0.14958	0.431000	0.26258	0.655000	0.94253	GCC		0.617	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		65	175	0	0	0	1	0	65	175				
TBCEL	219899	broad.mit.edu	37	11	120930756	120930756	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120930756T>C	ENST00000529397.1	+	7	1018	c.918T>C	c.(916-918)cgT>cgC	p.R306R	TBCEL_ENST00000422003.2_Silent_p.R306R	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	306						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTTTTATTCGTTACTATGTGG	0.383																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(916-918)cgT>cgC		tubulin folding cofactor E-like							100.0	92.0	95.0					11																	120930756		2202	4299	6501	SO:0001819	synonymous_variant	219899					cytoplasm|cytoskeleton		g.chr11:120930756T>C	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.918T>C	11.37:g.120930756T>C						TBCEL_ENST00000529397.1_Silent_p.R306R	p.R306R	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	7	1106	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	306					Q0VAN6	Silent	SNP	ENST00000529397.1	37	c.918T>C	CCDS31692.1																																																																																				0.383	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		9	235	0	0	0	1	0	9	235				
DSP	1832	broad.mit.edu	37	6	7582959	7582959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7582959C>T	ENST00000379802.3	+	24	5805	c.5464C>T	c.(5464-5466)Ctg>Ttg	p.L1822L	DSP_ENST00000418664.2_Silent_p.L1223L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1822	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATCAAAGTCCTGGAGCAAGA	0.478																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5464-5466)Ctg>Ttg		desmoplakin							118.0	125.0	123.0					6																	7582959		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7582959C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5464C>T	6.37:g.7582959C>T						DSP_ENST00000418664.2_Silent_p.L1223L	p.L1822L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5805	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1822			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.5464C>T	CCDS4501.1																																																																																				0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		111	520	0	0	0	1	0	111	520				
SYNE2	23224	broad.mit.edu	37	14	64532268	64532268	+	Missense_Mutation	SNP	C	C	T	rs372338837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532268C>T	ENST00000344113.4	+	51	10543	c.10331C>T	c.(10330-10332)tCg>tTg	p.S3444L	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3444L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3444					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S3444L(1)|p.S3444>?(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGATTGTGTCGGCTCTGTGG	0.433																																						ENST00000358025.3																			2	Substitution - Missense(1)|Complex(1)	p.S3444L(1)|p.S3444>?(1)	kidney(2)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10330-10332)tCg>tTg		spectrin repeat containing, nuclear envelope 2		C	LEU/SER,LEU/SER	1,3939		0,1,1969	168.0	165.0	166.0		10331,10331	1.7	0.0	14		166	0,8344		0,0,4172	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	145,145	0,1,6141	TT,TC,CC		0.0,0.0254,0.0081	benign,benign	3444/6886,3444/6908	64532268	1,12283	1970	4172	6142	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532268C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10331C>T	14.37:g.64532268C>T	ENSP00000341781:p.Ser3444Leu					SYNE2_ENST00000344113.4_Missense_Mutation_p.S3444L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477L	p.S3444L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10561	+			3444					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10331C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.043958	0.19748	2.54E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.51325	1.3;0.71;1.3;4.09	5.61	1.7	0.24286	.	0.592105	0.15399	N	0.264435	T	0.28300	0.0699	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.18741	0.017;0.03	B;B	0.12156	0.003;0.007	T	0.15263	-1.0443	10	0.34782	T	0.22	.	6.4274	0.21778	0.0:0.5589:0.2442:0.1969	.	3444;3444	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	3444;3444;3477;3477;78	ENSP00000350719:S3444L;ENSP00000341781:S3444L;ENSP00000452570:S3477L;ENSP00000450831:S78L	ENSP00000261678:S3477L	S	+	2	0	SYNE2	63602021	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.058000	0.14301	0.107000	0.17824	-0.145000	0.13849	TCG		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		67	225	0	0	0	1	0	67	225				
AHNAK	79026	broad.mit.edu	37	11	62296060	62296060	+	Silent	SNP	C	C	T	rs601430	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62296060C>T	ENST00000378024.4	-	5	6103	c.5829G>A	c.(5827-5829)tcG>tcA	p.S1943S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1943					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S1943S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTTGGCACCGACACATCCA	0.512													A|||	3	0.000599042	0.0	0.0	5008	,	,		21526	0.0		0.0	False		,,,				2504	0.0031					ENST00000378024.4																			1	Substitution - coding silent(1)	p.S1943S(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5827-5829)tcG>tcA		AHNAK nucleoprotein							214.0	223.0	220.0					11																	62296060		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62296060C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5829G>A	11.37:g.62296060C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S1943S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6103	-		Melanoma(852;0.155)	1943					A1A586	Silent	SNP	ENST00000378024.4	37	c.5829G>A	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		313	1272	0	0	0	1	0	313	1272				
PEX5L	51555	broad.mit.edu	37	3	179576866	179576866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179576866G>A	ENST00000467460.1	-	8	1136	c.806C>T	c.(805-807)gCa>gTa	p.A269V	PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	269					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCTGCTTTTGCCCTTTCAAA	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(805-807)gCa>gTa		peroxisomal biogenesis factor 5-like							143.0	142.0	142.0					3																	179576866		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179576866G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.806C>T	3.37:g.179576866G>A	ENSP00000419975:p.Ala269Val					PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V|PEX5L_ENST00000467440.2_5'UTR	p.A269V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		8	1136	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		269					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.806C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875930	0.91664	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.46;-2.4;-2.44;-2.47;-2.47;-2.4;-2.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	L	0.57536	1.79	0.80722	D	1	D;D;P;D;D;D	0.89917	0.993;0.999;0.884;1.0;0.999;0.999	D;D;P;D;D;D	0.85130	0.968;0.986;0.54;0.997;0.996;0.994	D	0.92940	0.6371	10	0.51188	T	0.08	-17.3417	18.8213	0.92099	0.0:0.0:1.0:0.0	.	210;245;161;267;234;269	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	269;267;234;267;161;77;226;157;210;161;245	ENSP00000419975:A269V;ENSP00000263962:A267V;ENSP00000418440:A234V;ENSP00000376420:A161V;ENSP00000418665:A77V;ENSP00000420555:A226V;ENSP00000418054:A210V;ENSP00000417270:A161V;ENSP00000419348:A245V	ENSP00000263962:A267V	A	-	2	0	PEX5L	181059560	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.049000	0.89443	2.754000	0.94517	0.558000	0.71614	GCA		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		37	239	0	0	0	1	0	37	239				
MYO1B	4430	broad.mit.edu	37	2	192288586	192288586	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192288586A>G	ENST00000392318.3	+	31	3558	c.3311A>G	c.(3310-3312)gAc>gGc	p.D1104G	MYO1B_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1104	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTCAGACAGGACAAAGTATGT	0.358																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(3310-3312)gAc>gGc		myosin IB							110.0	111.0	111.0					2																	192288586		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192288586A>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3311A>G	2.37:g.192288586A>G	ENSP00000376132:p.Asp1104Gly					MYO1B_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G|MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G	p.D1104G	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		31	3558	+			1104					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.3311A>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225845	0.39300	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.78	5.78	0.91487	Myosin tail 2 (1);	0.048029	0.85682	D	0.000000	T	0.29093	0.0723	N	0.16166	0.38	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.006;0.003	D;B;B	0.91635	0.999;0.012;0.007	T	0.05784	-1.0864	10	0.02654	T	1	.	14.6915	0.69091	1.0:0.0:0.0:0.0	.	349;1104;1046	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	G	1046;1104;1104;1075;349	ENSP00000341903:D1046G;ENSP00000376132:D1104G;ENSP00000306382:D1104G;ENSP00000376130:D1075G;ENSP00000391442:D349G	ENSP00000306382:D1104G	D	+	2	0	MYO1B	191996831	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	8.458000	0.90364	2.205000	0.71048	0.533000	0.62120	GAC		0.358	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		15	647	0	0	0	1	0	15	647				
ALG12	79087	broad.mit.edu	37	22	50303569	50303569	+	Missense_Mutation	SNP	C	C	T	rs200241636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50303569C>T	ENST00000330817.6	-	5	910	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	213					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGACGGCGTGGCGAAGG	0.522													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17070	0.001		0.0	False		,,,				2504	0.0					ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(637-639)Gcc>Acc		ALG12, alpha-1,6-mannosyltransferase							71.0	71.0	71.0					22																	50303569		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50303569C>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.637G>A	22.37:g.50303569C>T	ENSP00000333813:p.Ala213Thr						p.A213T	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	5	910	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	213					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.637G>A	CCDS14081.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.8	4.575536	0.86645	.	.	ENSG00000182858	ENST00000330817	T	0.62788	0.0	4.43	4.43	0.53597	.	0.048778	0.85682	D	0.000000	T	0.78400	0.4277	M	0.82056	2.57	0.80722	D	1	D	0.67145	0.996	P	0.62184	0.899	T	0.80986	-0.1137	10	0.49607	T	0.09	-10.9563	18.0056	0.89208	0.0:1.0:0.0:0.0	.	213	Q9BV10	ALG12_HUMAN	T	213	ENSP00000333813:A213T	ENSP00000333813:A213T	A	-	1	0	ALG12	48689573	1.000000	0.71417	0.073000	0.20177	0.004000	0.04260	4.036000	0.57304	2.425000	0.82216	0.644000	0.83932	GCC		0.522	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		38	266	0	0	0	1	0	38	266				
KLF4	9314	broad.mit.edu	37	9	110249902	110249902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110249902C>T	ENST00000374672.4	-	3	1246	c.773G>A	c.(772-774)aGc>aAc	p.S258N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	258	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|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)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACCGGGTGGCTGCCGTCAGG	0.687																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(772-774)aGc>aAc		Kruppel-like factor 4 (gut)							11.0	13.0	12.0					9																	110249902		2143	4186	6329	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249902C>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.773G>A	9.37:g.110249902C>T	ENSP00000363804:p.Ser258Asn						p.S258N	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			3	1246	-			258			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.773G>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090335	0.36855	.	.	ENSG00000136826	ENST00000374672	T	0.05580	3.42	4.68	4.68	0.58851	.	0.000000	0.49305	D	0.000155	T	0.04137	0.0115	N	0.19112	0.55	0.22435	N	0.999108	P;P	0.47302	0.808;0.893	B;B	0.33960	0.173;0.16	T	0.43081	-0.9413	10	0.40728	T	0.16	.	13.8346	0.63402	0.0:0.8459:0.1541:0.0	.	258;258	O43474;O43474-1	KLF4_HUMAN;.	N	258	ENSP00000363804:S258N	ENSP00000363804:S258N	S	-	2	0	KLF4	109289723	0.028000	0.19301	0.997000	0.53966	0.885000	0.51271	0.139000	0.16036	2.155000	0.67459	0.655000	0.94253	AGC		0.687	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		20	112	0	0	0	1	0	20	112				
AKAP2	11217	broad.mit.edu	37	9	112899046	112899046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899046G>A	ENST00000259318.7	+	2	736	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A408T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	177										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAAAAAGGAGGCCAAGTTTGA	0.532																																						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.(1222-1224)Gcc>Acc									85.0	79.0	81.0					9																	112899046		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112899046G>A	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.529G>A	9.37:g.112899046G>A	ENSP00000259318:p.Ala177Thr					AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A177T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T	p.A408T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1402	+			177					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1222G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907713	0.92107	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.999;0.997;0.998;0.998;0.996	T	0.68969	-0.5269	10	0.59425	D	0.04	-28.0429	19.8676	0.96824	0.0:0.0:1.0:0.0	.	177;266;260;266;267;408;408;226	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	408;408;408;408;266;266;226;177	ENSP00000363654:A408T;ENSP00000305861:A408T;ENSP00000451476:A408T;ENSP00000421522:A408T;ENSP00000404782:A266T;ENSP00000363649:A266T;ENSP00000419268:A226T;ENSP00000259318:A177T	ENSP00000259318:A177T	A	+	1	0	PALM2-AKAP2;AKAP2	111938867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	GCC		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		57	232	0	0	0	1	0	57	232				
CPSF1	29894	broad.mit.edu	37	8	145620531	145620531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145620531G>A	ENST00000349769.3	-	28	3230	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1046					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGTGGGATGCGGGCACACGGC	0.627																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3136-3138)Cgc>Tgc		cleavage and polyadenylation specific factor 1, 160kDa							59.0	58.0	58.0					8																	145620531		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145620531G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3136C>T	8.37:g.145620531G>A	ENSP00000339353:p.Arg1046Cys						p.R1046C	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		28	3230	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1046					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.3136C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582216	0.65992	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	4.54	3.63	0.41609	.	0.122857	0.52532	D	0.000061	T	0.53400	0.1794	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.53244	-0.8466	10	0.48119	T	0.1	-10.8279	11.225	0.48877	0.0:0.0:0.8083:0.1917	.	1046	Q10570	CPSF1_HUMAN	C	1046	ENSP00000339353:R1046C	ENSP00000339353:R1046C	R	-	1	0	CPSF1	145591339	1.000000	0.71417	0.993000	0.49108	0.774000	0.43823	5.773000	0.68898	1.069000	0.40788	0.561000	0.74099	CGC		0.627	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		39	142	0	0	0	1	0	39	142				
TRMT6	51605	broad.mit.edu	37	20	5927132	5927132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5927132C>T	ENST00000203001.2	-	2	306	c.176G>A	c.(175-177)gGc>gAc	p.G59D	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	59					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.G59V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATAACTATGGCCAATGACGTT	0.408																																						ENST00000203001.2																			1	Substitution - Missense(1)	p.G59V(1)	endometrium(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(175-177)gGc>gAc		tRNA methyltransferase 6 homolog (S. cerevisiae)							197.0	159.0	172.0					20																	5927132		2203	4300	6503	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5927132C>T	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.176G>A	20.37:g.5927132C>T	ENSP00000203001:p.Gly59Asp					TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	p.G59D	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			2	306	-			59					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.176G>A	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742387	0.89573	.	.	ENSG00000089195	ENST00000203001	T	0.48201	0.82	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74432	-0.3667	10	0.59425	D	0.04	-8.7611	16.4517	0.83993	0.0:0.8686:0.1314:0.0	.	59	Q9UJA5	TRM6_HUMAN	D	59	ENSP00000203001:G59D	ENSP00000203001:G59D	G	-	2	0	TRMT6	5875132	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	1.357000	0.45904	0.655000	0.94253	GGC		0.408	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			29	376	0	0	0	1	0	29	376				
TMCO2	127391	broad.mit.edu	37	1	40716992	40716992	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40716992A>G	ENST00000372766.3	+	2	368	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	92						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TACAAACTTTACAAGAAGGGC	0.368																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(274-276)tAc>tGc		transmembrane and coiled-coil domains 2							77.0	80.0	79.0					1																	40716992		2203	4300	6503	SO:0001583	missense	127391					integral to membrane		g.chr1:40716992A>G	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.275A>G	1.37:g.40716992A>G	ENSP00000361852:p.Tyr92Cys					TMCO2_ENST00000468258.1_3'UTR	p.Y92C	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		2	368	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	92						Missense_Mutation	SNP	ENST00000372766.3	37	c.275A>G	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535742	0.64972	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.24	5.24	0.73138	.	0.000000	0.49916	D	0.000124	T	0.60856	0.2301	L	0.32530	0.975	0.36795	D	0.885068	D	0.89917	1.0	D	0.91635	0.999	T	0.68918	-0.5282	9	0.87932	D	0	-9.6777	11.454	0.50169	1.0:0.0:0.0:0.0	.	92	Q7Z6W1	TMCO2_HUMAN	C	92	.	ENSP00000361852:Y92C	Y	+	2	0	TMCO2	40489579	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.007000	0.57093	2.202000	0.70862	0.533000	0.62120	TAC		0.368	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		73	284	0	0	0	1	0	73	284				
MMP16	4325	broad.mit.edu	37	8	89054008	89054008	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:89054008T>G	ENST00000286614.6	-	10	1786	c.1505A>C	c.(1504-1506)tAc>tCc	p.Y502S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	502					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CTTTCCTTTGTAGAAATACGT	0.388																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1504-1506)tAc>tCc		matrix metallopeptidase 16 (membrane-inserted)							128.0	112.0	117.0					8																	89054008		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89054008T>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1505A>C	8.37:g.89054008T>G	ENSP00000286614:p.Tyr502Ser						p.Y502S	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			10	1786	-			502			Hemopexin-like 4.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1505A>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175308	0.78564	.	.	ENSG00000156103	ENST00000286614	T	0.02579	4.24	5.86	5.86	0.93980	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	M	0.91972	3.26	0.80722	D	1	P	0.47962	0.903	D	0.79108	0.992	T	0.01010	-1.1482	10	0.66056	D	0.02	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	502	P51512	MMP16_HUMAN	S	502	ENSP00000286614:Y502S	ENSP00000286614:Y502S	Y	-	2	0	MMP16	89123124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.232000	0.73038	0.533000	0.62120	TAC		0.388	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		35	151	0	0	0	1	0	35	151				
PPEF1	5475	broad.mit.edu	37	X	18843868	18843868	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18843868G>A	ENST00000361511.4	+	18	2159		c.e18-1		PPEF1_ENST00000543630.1_Splice_Site|PPEF1_ENST00000349874.5_Splice_Site|PPEF1_ENST00000544635.1_Splice_Site|PPEF1_ENST00000359763.6_Splice_Site	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1						detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTTTATTTTAGGCTCATTCTA	0.318																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.e18-1		protein phosphatase, EF-hand calcium binding domain 1							94.0	85.0	88.0					X																	18843868		2203	4300	6503	SO:0001630	splice_region_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18843868G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1666-1G>A	X.37:g.18843868G>A						PPEF1_ENST00000543630.1_Splice_Site|PPEF1_ENST00000359763.6_Splice_Site|PPEF1_ENST00000349874.5_Splice_Site|PPEF1_ENST00000544635.1_Splice_Site		NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			18	2159	+	Hepatocellular(33;0.183)							A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Splice_Site	SNP	ENST00000361511.4	37		CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149345	0.37923	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7776	0.85555	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPEF1	18753789	1.000000	0.71417	0.971000	0.41717	0.242000	0.25591	8.412000	0.90232	2.221000	0.72209	0.544000	0.68410	.		0.318	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	Intron	49	206	0	0	0	1	0	49	206				
IGF2BP1	10642	broad.mit.edu	37	17	47123649	47123649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47123649G>A	ENST00000290341.3	+	14	1889	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	519	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGACGGCAGCTGAGGTGGT	0.547																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1555-1557)Gct>Act		insulin-like growth factor 2 mRNA binding protein 1							98.0	86.0	90.0					17																	47123649		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47123649G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1555G>A	17.37:g.47123649G>A	ENSP00000290341:p.Ala519Thr					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	p.A519T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			14	1889	+			519			KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1555G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680623	0.96774	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.54071	0.59;0.59	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.81914	0.995;0.82	T	0.77747	-0.2472	10	0.66056	D	0.02	-13.076	19.5069	0.95121	0.0:0.0:1.0:0.0	.	380;519	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	519;380	ENSP00000290341:A519T;ENSP00000389135:A380T	ENSP00000290341:A519T	A	+	1	0	IGF2BP1	44478648	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	9.614000	0.98353	2.941000	0.99782	0.655000	0.94253	GCT		0.547	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		60	340	0	0	0	1	0	60	340				
PDIA6	10130	broad.mit.edu	37	2	10931982	10931982	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10931982G>T	ENST00000272227.3	-	6	670	c.523C>A	c.(523-525)Ctg>Atg	p.L175M	PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M|PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000404371.2_Missense_Mutation_p.L227M	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	175	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TCACTGTCCAGAACATTCTTA	0.398																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(679-681)Ctg>Atg		protein disulfide isomerase family A, member 6							280.0	207.0	232.0					2																	10931982		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10931982G>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.523C>A	2.37:g.10931982G>T	ENSP00000272227:p.Leu175Met					PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M|PDIA6_ENST00000272227.3_Missense_Mutation_p.L175M|PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M	p.L227M			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	8	1016	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		175			Thioredoxin 2.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.679C>A	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845266	0.51164	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9	5.63	5.63	0.86233	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.062970	0.64402	D	0.000003	T	0.14527	0.0351	M	0.67700	2.07	0.80722	D	1	B;B;B;P	0.40476	0.313;0.197;0.079;0.718	P;B;P;P	0.61132	0.579;0.397;0.448;0.884	T	0.00007	-1.2496	10	0.66056	D	0.02	.	10.7576	0.46245	0.0694:0.0:0.7977:0.1329	.	172;223;227;175	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	M	175;227;223;172;180	ENSP00000272227:L175M;ENSP00000385385:L227M;ENSP00000384459:L223M;ENSP00000438778:L172M;ENSP00000371024:L180M	ENSP00000272227:L175M	L	-	1	2	PDIA6	10849433	0.988000	0.35896	0.552000	0.28243	0.471000	0.32888	1.670000	0.37502	2.826000	0.97356	0.655000	0.94253	CTG		0.398	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		108	269	1	0	8.13839e-76	1	1.0381e-75	108	269				
ESYT2	57488	broad.mit.edu	37	7	158534454	158534454	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158534454C>T	ENST00000251527.5	-	17	2074	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	698					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTGTTGCTGCCACCAGGGCC	0.572																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(2008-2010)gGc>gAc		extended synaptotagmin-like protein 2							59.0	63.0	62.0					7																	158534454		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158534454C>T	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2009G>A	7.37:g.158534454C>T	ENSP00000251527:p.Gly670Asp					ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	p.G670D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			17	2074	-			698					A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.2009G>A	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.315979	0.01331	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.19669	2.13;2.13;2.53	5.51	2.48	0.30137	.	0.993034	0.08196	N	0.983139	T	0.07728	0.0194	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.39981	-0.9587	10	0.12430	T	0.62	-26.6989	6.1546	0.20330	0.0:0.4376:0.3875:0.1749	.	670;698	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	670;719;661;105;105;494	ENSP00000251527:G670D;ENSP00000275418:G661D;ENSP00000411488:G105D	ENSP00000251527:G670D	G	-	2	0	ESYT2	158227215	0.005000	0.15991	0.001000	0.08648	0.010000	0.07245	1.079000	0.30766	0.614000	0.30107	0.650000	0.86243	GGC		0.572	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		57	276	0	0	0	1	0	57	276				
HERC1	8925	broad.mit.edu	37	15	63967220	63967220	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63967220C>T	ENST00000443617.2	-	38	7254	c.7167G>A	c.(7165-7167)acG>acA	p.T2389T	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2389					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACAGAAGCCGTCAGGCCTC	0.488																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(7165-7167)acG>acA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							119.0	113.0	115.0					15																	63967220		2036	4195	6231	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63967220C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7167G>A	15.37:g.63967220C>T							p.T2389T	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			38	7254	-			2389					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.7167G>A	CCDS45277.1																																																																																				0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		107	464	0	0	0	1	0	107	464				
STAM2	10254	broad.mit.edu	37	2	152992061	152992061	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152992061T>G	ENST00000263904.4	-	8	1110	c.761A>C	c.(760-762)aAt>aCt	p.N254T		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	254	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			N -> D (in Ref. 2; CAB63735). {ECO:0000305}.	endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TGTTACAAAATTGGATGGGAA	0.303																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(760-762)aAt>aCt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							107.0	114.0	112.0					2																	152992061		2203	4299	6502	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152992061T>G	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.761A>C	2.37:g.152992061T>G	ENSP00000263904:p.Asn254Thr						p.N254T	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	8	1110	-			254	N -> D (in Ref. 2; CAB63735).		SH3.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.761A>C	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063769	0.76187	.	.	ENSG00000115145	ENST00000263904	T	0.37411	1.2	5.55	4.36	0.52297	Src homology-3 domain (4);	0.041476	0.85682	D	0.000000	T	0.48390	0.1497	L	0.50919	1.6	0.80722	D	1	D;D	0.60575	0.982;0.988	P;P	0.61070	0.883;0.858	T	0.40997	-0.9533	10	0.48119	T	0.1	-18.2276	11.6591	0.51337	0.0:0.0704:0.0:0.9296	.	254;254	O75886-2;O75886	.;STAM2_HUMAN	T	254	ENSP00000263904:N254T	ENSP00000263904:N254T	N	-	2	0	STAM2	152700307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.762000	0.68809	0.897000	0.36392	0.460000	0.39030	AAT		0.303	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		120	324	0	0	0	1	0	120	324				
MET	4233	broad.mit.edu	37	7	116415084	116415084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116415084C>T	ENST00000318493.6	+	15	3419	c.3232C>T	c.(3232-3234)Cca>Tca	p.P1078S	MET_ENST00000539704.1_5'Flank|MET_ENST00000397752.3_Missense_Mutation_p.P1060S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCTCTAAATCCAGAGCTGGT	0.473			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3178-3180)Cca>Tca		met proto-oncogene							188.0	186.0	186.0					7																	116415084		2117	4249	6366	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116415084C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3232C>T	7.37:g.116415084C>T	ENSP00000317272:p.Pro1078Ser					MET_ENST00000318493.6_Missense_Mutation_p.P1078S	p.P1060S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		15	3378	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1060					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3178C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684620	0.68157	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.73789	-0.76;-0.78	5.62	5.62	0.85841	Protein kinase-like domain (1);	0.048031	0.85682	D	0.000000	T	0.80969	0.4726	L	0.43152	1.355	0.80722	D	1	P;D	0.76494	0.453;0.999	B;D	0.74348	0.185;0.983	T	0.79438	-0.1803	10	0.42905	T	0.14	.	14.8095	0.69982	0.1441:0.8559:0.0:0.0	.	1078;1060	P08581-2;P08581	.;MET_HUMAN	S	1060;1078;145	ENSP00000380860:P1060S;ENSP00000317272:P1078S	ENSP00000317272:P1078S	P	+	1	0	MET	116202320	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.267000	0.65530	2.795000	0.96236	0.655000	0.94253	CCA		0.473	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			101	497	0	0	0	1	0	101	497				
NLGN1	22871	broad.mit.edu	37	3	173996999	173996999	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996999A>G	ENST00000457714.1	+	6	1637	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G	NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G|NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	420					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTAGATAGCGATGATGGTATA	0.333																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1207-1209)gAt>gGt		neuroligin 1							122.0	130.0	128.0					3																	173996999		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996999A>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1208A>G	3.37:g.173996999A>G	ENSP00000392500:p.Asp403Gly					NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G	p.D403G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1637	+	Ovarian(172;0.0025)		420					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1208A>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811455	0.50527	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.62	5.62	0.85841	.	0.106713	0.64402	D	0.000006	T	0.55784	0.1942	N	0.21545	0.675	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.54111	-0.8342	10	0.72032	D	0.01	.	15.837	0.78805	1.0:0.0:0.0:0.0	.	443;403	D2X2H5;Q8N2Q7-2	.;.	G	403;403;403;443	ENSP00000392500:D403G;ENSP00000354541:D403G;ENSP00000441108:D403G;ENSP00000385750:D443G	ENSP00000354541:D403G	D	+	2	0	NLGN1	175479693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	GAT		0.333	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		87	399	0	0	0	1	0	87	399				
CASKIN1	57524	broad.mit.edu	37	16	2236773	2236773	+	Missense_Mutation	SNP	C	C	T	rs573154682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236773C>T	ENST00000343516.6	-	10	1075	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	328	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATTGCCCGTCCGGTTGTCATG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16794	0.0		0.0	False		,,,				2504	0.0					ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(982-984)cGg>cAg		CASK interacting protein 1							37.0	41.0	40.0					16																	2236773		2024	4155	6179	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2236773C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.983G>A	16.37:g.2236773C>T	ENSP00000345436:p.Arg328Gln						p.R328Q	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			10	1075	-			328			SH3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.983G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901262	0.72754	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.16743	2.32	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.08670	0.0215	N	0.01352	-0.895	0.58432	D	0.999999	P	0.51537	0.946	P	0.50490	0.642	T	0.21143	-1.0254	9	0.02654	T	1	-28.9012	16.6164	0.84917	0.0:1.0:0.0:0.0	.	328	Q8WXD9	CSKI1_HUMAN	Q	328;157	ENSP00000345436:R328Q	ENSP00000345436:R328Q	R	-	2	0	CASKIN1	2176774	0.983000	0.35010	1.000000	0.80357	0.994000	0.84299	1.815000	0.38981	2.577000	0.86979	0.563000	0.77884	CGG		0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		81	288	0	0	0	1	0	81	288				
BBS5	129880	broad.mit.edu	37	2	170359670	170359670	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170359670T>G	ENST00000295240.3	+	10	1258	c.882T>G	c.(880-882)ggT>ggG	p.G294G	BBS5_ENST00000392663.2_Silent_p.G273G|RP11-724O16.1_ENST00000513963.1_Silent_p.G294G|BBS5_ENST00000554017.1_Silent_p.G294G	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	294					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTCTGATGGTCACACGGATG	0.393									Bardet-Biedl syndrome																													ENST00000295240.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(880-882)ggT>ggG		Bardet-Biedl syndrome 5							90.0	85.0	87.0					2																	170359670		2203	4300	6503	SO:0001819	synonymous_variant	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170359670T>G	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.882T>G	2.37:g.170359670T>G						RP11-724O16.1_ENST00000513963.1_Silent_p.G294G|BBS5_ENST00000554017.1_Silent_p.G294G|BBS5_ENST00000392663.2_Silent_p.G273G	p.G294G	NM_152384.2	NP_689597.1					10	1258	+								D3DPC3|Q6PKN0	Silent	SNP	ENST00000295240.3	37	c.882T>G	CCDS2233.1																																																																																				0.393	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		14	136	0	0	0	1	0	14	136				
FREM2	341640	broad.mit.edu	37	13	39265074	39265074	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39265074T>G	ENST00000280481.7	+	1	3809	c.3593T>G	c.(3592-3594)tTt>tGt	p.F1198C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1198					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGAGAGAATTTATGGTGATG	0.403																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3592-3594)tTt>tGt		FRAS1 related extracellular matrix protein 2							249.0	237.0	241.0					13																	39265074		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265074T>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3593T>G	13.37:g.39265074T>G	ENSP00000280481:p.Phe1198Cys						p.F1198C	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3809	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1198					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3593T>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452837	0.63290	.	.	ENSG00000150893	ENST00000280481	T	0.51325	0.71	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.77973	-0.2386	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1198	Q5SZK8	FREM2_HUMAN	C	1198	ENSP00000280481:F1198C	ENSP00000280481:F1198C	F	+	2	0	FREM2	38163074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.333000	0.79357	0.533000	0.62120	TTT		0.403	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		231	980	0	0	0	1	0	231	980				
ACSM1	116285	broad.mit.edu	37	16	20681260	20681260	+	Silent	SNP	C	C	T	rs577881935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681260C>T	ENST00000307493.4	-	5	868	c.801G>A	c.(799-801)tcG>tcA	p.S267S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.S267S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	267					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S267S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATCCTGAGTCCGACAGGCACC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20004	0.001		0.0	False		,,,				2504	0.0					ENST00000307493.4																			1	Substitution - coding silent(1)	p.S267S(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(799-801)tcG>tcA		acyl-CoA synthetase medium-chain family member 1							141.0	120.0	127.0					16																	20681260		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20681260C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.801G>A	16.37:g.20681260C>T						ACSM1_ENST00000520010.1_Silent_p.S267S|ACSM1_ENST00000219151.4_5'UTR	p.S267S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			5	868	-			267					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.801G>A	CCDS10587.1																																																																																				0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		50	223	0	0	0	1	0	50	223				
METAP1	23173	broad.mit.edu	37	4	99969935	99969935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99969935C>T	ENST00000296411.6	+	9	973	c.839C>T	c.(838-840)gCc>gTc	p.A280V	METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	280					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CAGAAGCATGCCCAAGCAAAT	0.398																																						ENST00000296411.6																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(838-840)gCc>gTc		methionyl aminopeptidase 1							183.0	174.0	177.0					4																	99969935		1877	4104	5981	SO:0001583	missense	23173				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr4:99969935C>T	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.839C>T	4.37:g.99969935C>T	ENSP00000296411:p.Ala280Val					METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	p.A280V	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	9	973	+			280					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.839C>T	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676809	0.67928	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133	T;T;T	0.77750	-1.12;-1.12;-1.12	4.4	4.4	0.53042	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	L	0.46567	1.45	0.80722	D	1	P	0.51653	0.947	P	0.55824	0.785	T	0.80301	-0.1440	9	.	.	.	-12.0974	17.5417	0.87850	0.0:1.0:0.0:0.0	.	280	P53582	AMPM1_HUMAN	V	280;230;64	ENSP00000296411:A280V;ENSP00000440993:A230V;ENSP00000423071:A64V	.	A	+	2	0	METAP1	100188958	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.440000	0.82611	0.585000	0.79938	GCC		0.398	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		109	387	0	0	0	1	0	109	387				
PCDHB2	56133	broad.mit.edu	37	5	140475722	140475722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475722G>A	ENST00000194155.4	+	1	1496	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.597																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1348-1350)Gcc>Acc									126.0	118.0	120.0					5																	140475722		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475722G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1348G>A	5.37:g.140475722G>A	ENSP00000194155:p.Ala450Thr						p.A450T	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1496	+			450			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1348G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681742	0.14907	.	.	ENSG00000112852	ENST00000194155	T	0.03181	4.02	5.11	0.557	0.17260	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.05364	0.0142	M	0.85099	2.735	0.32974	D	0.522764	D	0.55605	0.972	B	0.34652	0.187	T	0.34875	-0.9811	9	0.56958	D	0.05	.	6.9348	0.24461	0.0811:0.5668:0.241:0.1111	.	450	Q9Y5E7	PCDB2_HUMAN	T	450	ENSP00000194155:A450T	ENSP00000194155:A450T	A	+	1	0	PCDHB2	140455906	0.000000	0.05858	0.973000	0.42090	0.005000	0.04900	-0.599000	0.05700	0.236000	0.21180	-1.066000	0.02275	GCC		0.597	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		79	1145	0	0	0	1	0	79	1145				
HIP1	3092	broad.mit.edu	37	7	75187529	75187529	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75187529C>A	ENST00000336926.6	-	15	1432	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	HIP1_ENST00000434438.2_Missense_Mutation_p.S469I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	469	pDED.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTTAGCTTGCTATATCGCTG	0.542			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1405-1407)aGc>aTc		huntingtin interacting protein 1							233.0	185.0	201.0					7																	75187529		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75187529C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1406G>T	7.37:g.75187529C>A	ENSP00000336747:p.Ser469Ile					HIP1_ENST00000434438.2_Missense_Mutation_p.S469I	p.S469I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			15	1432	-			469			pDED.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1406G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626792	0.46840	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.7;2.49	5.18	4.24	0.50183	.	0.192946	0.56097	D	0.000033	T	0.13500	0.0327	L	0.54323	1.7	0.40654	D	0.982062	P;P	0.45531	0.86;0.767	B;B	0.36845	0.234;0.168	T	0.04855	-1.0922	10	0.52906	T	0.07	-21.3599	13.0976	0.59202	0.0:0.7076:0.2924:0.0	.	469;469	E7ES17;O00291	.;HIP1_HUMAN	I	469	ENSP00000336747:S469I;ENSP00000410300:S469I	ENSP00000336747:S469I	S	-	2	0	HIP1	75025465	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.944000	0.40263	2.417000	0.82017	0.591000	0.81541	AGC		0.542	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		72	355	1	0	3.71121e-27	1	4.29247e-27	72	355				
EFEMP1	2202	broad.mit.edu	37	2	56144958	56144958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144958G>A	ENST00000394555.2	-	4	794	c.359C>T	c.(358-360)gCc>gTc	p.A120V	EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V|EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	120					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCAGCACTGGCCACAAAACC	0.597																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(358-360)gCc>gTc		EGF containing fibulin-like extracellular matrix protein 1							56.0	55.0	55.0					2																	56144958		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56144958G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.359C>T	2.37:g.56144958G>A	ENSP00000378058:p.Ala120Val					EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V	p.A120V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	794	-			120					A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.359C>T	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306055	0.81247	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	D;D;T;D;T	0.83755	-1.76;-1.76;-1.28;-1.76;-1.18	4.58	3.69	0.42338	.	0.000000	0.47852	D	0.000203	T	0.61085	0.2319	N	0.08118	0	0.24765	N	0.992903	B;B	0.18310	0.027;0.002	B;B	0.11329	0.006;0.003	T	0.44832	-0.9302	10	0.13470	T	0.59	.	6.5096	0.22214	0.0963:0.1837:0.72:0.0	.	62;120	B4DW75;Q12805	.;FBLN3_HUMAN	V	120;120;62;120;120	ENSP00000378058:A120V;ENSP00000378057:A120V;ENSP00000399145:A62V;ENSP00000347596:A120V;ENSP00000392055:A120V	ENSP00000347596:A120V	A	-	2	0	EFEMP1	55998462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.089000	0.41672	1.522000	0.49001	0.650000	0.86243	GCC		0.597	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			81	373	0	0	0	1	0	81	373				
PKD1	5310	broad.mit.edu	37	16	2153863	2153863	+	Missense_Mutation	SNP	C	C	T	rs78185588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153863C>T	ENST00000262304.4	-	23	8403	c.8195G>A	c.(8194-8196)cGg>cAg	p.R2732Q	PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2732	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGTGCCCGCACGTCCGA	0.642													c|||	1	0.000199681	0.0	0.0	5008	,	,		10585	0.001		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8194-8196)cGg>cAg		polycystic kidney disease 1 (autosomal dominant)		C	GLN/ARG,GLN/ARG	0,4328		0,0,2164	15.0	15.0	15.0		8195,8195	1.9	0.0	16	dbSNP_131	15	2,8538		0,2,4268	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	43,43	0,2,6432	TT,TC,CC		0.0234,0.0,0.0155	benign,benign	2732/4303,2732/4304	2153863	2,12866	2164	4270	6434	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153863C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8195G>A	16.37:g.2153863C>T	ENSP00000262304:p.Arg2732Gln					PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q|PKD1_ENST00000561991.1_5'UTR	p.R2732Q	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8403	-			2732			REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8195G>A	CCDS32369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.137	0.393575	0.11638	0.0	2.34E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.32272	1.46;1.46	4.41	1.91	0.25777	Egg jelly receptor, REJ-like (1);	0.372642	0.27650	N	0.018440	T	0.04815	0.0130	N	0.00162	-1.95	0.09310	N	1	B;B	0.15719	0.011;0.014	B;B	0.04013	0.001;0.001	T	0.37888	-0.9686	10	0.06757	T	0.87	.	4.7784	0.13190	0.0:0.1667:0.3067:0.5266	.	2732;2732	P98161-3;P98161	.;PKD1_HUMAN	Q	2732;2732;2067;1011	ENSP00000262304:R2732Q;ENSP00000399501:R2732Q	ENSP00000262304:R2732Q	R	-	2	0	PKD1	2093864	0.323000	0.24643	0.022000	0.16811	0.001000	0.01503	0.449000	0.21744	0.211000	0.20683	-0.678000	0.03780	CGG		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			23	96	0	0	0	1	0	23	96				
KRTAP10-3	386682	broad.mit.edu	37	21	45977936	45977936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45977936G>T	ENST00000391620.1	-	1	707	c.663C>A	c.(661-663)tgC>tgA	p.C221*	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	221						keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CTGCCCGTCAGCAGCTGGACT	0.652																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(661-663)tgC>tgA		keratin associated protein 10-3							28.0	31.0	30.0					21																	45977936		2156	4261	6417	SO:0001587	stop_gained	386682					keratin filament		g.chr21:45977936G>T	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.663C>A	21.37:g.45977936G>T	ENSP00000375478:p.Cys221*					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.C221*	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	707	-			221					A3KN67|Q70LJ4	Nonsense_Mutation	SNP	ENST00000391620.1	37	c.663C>A	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	16.89	3.248000	0.59103	.	.	ENSG00000212935	ENST00000391620	.	.	.	3.61	2.69	0.31865	.	.	.	.	.	.	.	.	.	.	.	0.38741	D	0.953885	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4773	0.38880	0.1199:0.0:0.8801:0.0	.	.	.	.	X	221	.	ENSP00000375478:C221X	C	-	3	2	KRTAP10-3	44802364	0.998000	0.40836	0.982000	0.44146	0.388000	0.30384	1.564000	0.36375	1.714000	0.51371	0.462000	0.41574	TGC		0.652	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			27	215	1	0	1.77063e-15	1	1.9355e-15	27	215				
ZBED4	9889	broad.mit.edu	37	22	50280636	50280636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50280636C>T	ENST00000216268.5	+	2	3803	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1109						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGAAGAAGGCGTCCTGGCCG	0.582																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3325-3327)gCg>gTg		zinc finger, BED-type containing 4							61.0	53.0	56.0					22																	50280636		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280636C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3326C>T	22.37:g.50280636C>T	ENSP00000216268:p.Ala1109Val						p.A1109V	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3803	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	1109					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.3326C>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	3.477	-0.106658	0.06924	.	.	ENSG00000100426	ENST00000216268	T	0.25250	1.81	5.17	4.15	0.48705	HAT dimerisation (1);Ribonuclease H-like (1);	0.666618	0.15432	N	0.262679	T	0.17874	0.0429	N	0.21142	0.635	0.09310	N	1	B	0.27882	0.192	B	0.19946	0.027	T	0.11991	-1.0565	10	0.35671	T	0.21	-4.1212	13.5439	0.61690	0.0:0.9256:0.0:0.0744	.	1109	O75132	ZBED4_HUMAN	V	1109	ENSP00000216268:A1109V	ENSP00000216268:A1109V	A	+	2	0	ZBED4	48666640	1.000000	0.71417	0.002000	0.10522	0.207000	0.24258	5.419000	0.66435	1.416000	0.47057	0.650000	0.86243	GCG		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		59	251	0	0	0	1	0	59	251				
LRRK2	120892	broad.mit.edu	37	12	40704345	40704345	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40704345G>A	ENST00000298910.7	+	31	4488	c.4430G>A	c.(4429-4431)cGa>cAa	p.R1477Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1477	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGAATAAGCGAGGGTTCCCT	0.453																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(4429-4431)cGa>cAa		leucine-rich repeat kinase 2							185.0	179.0	181.0					12																	40704345		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40704345G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4430G>A	12.37:g.40704345G>A	ENSP00000298910:p.Arg1477Gln						p.R1477Q	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			31	4488	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1477			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4430G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525058	0.44969	.	.	ENSG00000188906	ENST00000298910	T	0.80304	-1.36	5.53	5.53	0.82687	ROC GTPase (1);	0.147080	0.47455	D	0.000223	T	0.63616	0.2526	L	0.29908	0.895	0.29304	N	0.868489	B;P	0.35908	0.338;0.527	B;B	0.15484	0.009;0.013	T	0.59247	-0.7490	10	0.13470	T	0.59	.	12.7605	0.57361	0.075:0.0:0.925:0.0	.	1477;1477	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1477	ENSP00000298910:R1477Q	ENSP00000298910:R1477Q	R	+	2	0	LRRK2	38990612	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.642000	0.61383	2.597000	0.87782	0.650000	0.86243	CGA		0.453	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		149	715	0	0	0	1	0	149	715				
ABL1	25	broad.mit.edu	37	9	133760702	133760702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760702C>T	ENST00000318560.5	+	11	3406	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1009	F-actin-binding.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CATATCAACCCGAGTGTCTCT	0.662			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(3025-3027)Cga>Tga		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						59.0	70.0	66.0					9																	133760702		2203	4300	6503	SO:0001587	stop_gained	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760702C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3025C>T	9.37:g.133760702C>T	ENSP00000323315:p.Arg1009*						p.R1009*	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3406	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	1009			F-actin-binding.|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	37	c.3025C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	43	10.274030	0.99373	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4781	0.61320	0.1667:0.8333:0.0:0.0	.	.	.	.	X	824;1028;1009	.	ENSP00000323315:R1009X	R	+	1	2	ABL1	132750523	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	3.861000	0.56002	2.457000	0.83068	0.555000	0.69702	CGA		0.662	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		112	539	0	0	0	1	0	112	539				
ZKSCAN4	387032	broad.mit.edu	37	6	28213501	28213501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213501C>T	ENST00000377294.2	-	5	1274	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	344					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTTTCTCACCAGTGTGGAT	0.458																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1030-1032)gGt>gAt		zinc finger with KRAB and SCAN domains 4							123.0	111.0	115.0					6																	28213501		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213501C>T	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1031G>A	6.37:g.28213501C>T	ENSP00000366509:p.Gly344Asp					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	p.G344D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1274	-			344					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1031G>A	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958964	0.74016	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.01599	4.74;4.74	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	M	0.73753	2.245	0.49915	D	0.999836	D	0.89917	1.0	D	0.91635	0.999	T	0.07347	-1.0777	9	0.87932	D	0	.	17.6454	0.88147	0.0:1.0:0.0:0.0	.	344	Q969J2	ZKSC4_HUMAN	D	344;189;50;220	ENSP00000366509:G344D;ENSP00000401978:G189D	ENSP00000349249:G220D	G	-	2	0	ZKSCAN4	28321480	0.969000	0.33509	0.438000	0.26821	0.499000	0.33736	4.030000	0.57260	2.522000	0.85027	0.655000	0.94253	GGT		0.458	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		79	317	0	0	0	1	0	79	317				
DNAH7	56171	broad.mit.edu	37	2	196746544	196746544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746544C>T	ENST00000312428.6	-	36	6036	c.5936G>A	c.(5935-5937)gGa>gAa	p.G1979E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1979	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCCCAGTTCCTGTTGGTCC	0.368																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(5935-5937)gGa>gAa		dynein, axonemal, heavy chain 7							158.0	144.0	148.0					2																	196746544		1839	4087	5926	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196746544C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5936G>A	2.37:g.196746544C>T	ENSP00000311273:p.Gly1979Glu						p.G1979E	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			36	6036	-			1979			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5936G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506106	0.85282	.	.	ENSG00000118997	ENST00000312428	D	0.90620	-2.7	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98479	1.0604	10	0.87932	D	0	.	18.2971	0.90150	0.0:1.0:0.0:0.0	.	1979	Q8WXX0	DYH7_HUMAN	E	1979	ENSP00000311273:G1979E	ENSP00000311273:G1979E	G	-	2	0	DNAH7	196454789	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.237000	0.78164	2.665000	0.90641	0.585000	0.79938	GGA		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		83	504	0	0	0	1	0	83	504				
GRM2	2912	broad.mit.edu	37	3	51749343	51749343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51749343C>T	ENST00000395052.3	+	4	1788	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	518					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGAAGTCTGCTGCTGGCTCT	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1552-1554)tgC>tgT		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						34.0	31.0	32.0					3																	51749343		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749343C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1554C>T	3.37:g.51749343C>T						GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	p.C518C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1788	+			518					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.1554C>T	CCDS2834.1																																																																																				0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			14	190	0	0	0	1	0	14	190				
PXDNL	137902	broad.mit.edu	37	8	52321942	52321942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52321942C>T	ENST00000356297.4	-	17	2342	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T	PXDNL_ENST00000543296.1_Missense_Mutation_p.A748T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	748					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGCGAAGGCGGTCAGCGCC	0.736																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2242-2244)Gcc>Acc		peroxidasin homolog (Drosophila)-like							11.0	12.0	12.0					8																	52321942		1911	4099	6010	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321942C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2242G>A	8.37:g.52321942C>T	ENSP00000348645:p.Ala748Thr					PXDNL_ENST00000543296.1_Missense_Mutation_p.A748T	p.A748T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2342	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	748					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2242G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745680	0.69418	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69685	-0.42;-0.42	3.71	3.71	0.42584	.	.	.	.	.	T	0.78323	0.4265	M	0.68952	2.095	0.34599	D	0.716333	D	0.76494	0.999	D	0.68765	0.96	D	0.85349	0.1100	9	0.72032	D	0.01	.	13.2908	0.60270	0.0:1.0:0.0:0.0	.	748	A1KZ92	PXDNL_HUMAN	T	748	ENSP00000348645:A748T;ENSP00000444865:A748T	ENSP00000348645:A748T	A	-	1	0	PXDNL	52484495	0.992000	0.36948	0.070000	0.20053	0.020000	0.10135	2.996000	0.49449	1.779000	0.52309	0.555000	0.69702	GCC		0.736	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		27	107	0	0	0	1	0	27	107				
DLK1	8788	broad.mit.edu	37	14	101200802	101200802	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101200802G>T	ENST00000341267.4	+	5	963	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	241	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CGAGTTCACAGGTCTCACCTG	0.677																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(721-723)Ggt>Tgt		delta-like 1 homolog (Drosophila)							37.0	43.0	41.0					14																	101200802		2202	4300	6502	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200802G>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.721G>T	14.37:g.101200802G>T	ENSP00000340292:p.Gly241Cys					DLK1_ENST00000331224.6_Intron	p.G241C	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	963	+		Melanoma(154;0.155)	241			EGF-like 6.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.721G>T	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953983	0.73902	.	.	ENSG00000185559	ENST00000341267	D	0.99121	-5.45	4.46	4.46	0.54185	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	9	.	.	.	.	16.1202	0.81346	0.0:0.0:1.0:0.0	.	241	P80370	DLK1_HUMAN	C	241	ENSP00000340292:G241C	.	G	+	1	0	DLK1	100270555	1.000000	0.71417	0.175000	0.22980	0.825000	0.46686	9.183000	0.94887	2.031000	0.59945	0.491000	0.48974	GGT		0.677	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			100	385	1	0	1.39607e-43	1	1.70485e-43	100	385				
MAST4	375449	broad.mit.edu	37	5	66462832	66462832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66462832C>T	ENST00000403625.2	+	29	8120	c.7825C>T	c.(7825-7827)Cgg>Tgg	p.R2609W	MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2612W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2612						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACGGCAGAGGCGGGGGAAAGA	0.592																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7834-7836)Cgg>Tgg		microtubule associated serine/threonine kinase family member 4							18.0	19.0	19.0					5																	66462832		1911	4098	6009	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462832C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7825C>T	5.37:g.66462832C>T	ENSP00000385727:p.Arg2609Trp					MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W|MAST4_ENST00000403625.2_Missense_Mutation_p.R2609W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W|MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W	p.R2612W			O15021	MAST4_HUMAN		Lung(70;0.011)	29	8142	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2612					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7834C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.335850|4.335850	0.81801|0.81801	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.74632	.|-0.85;-0.85;-0.86;-0.86;-0.83	5.49|5.49	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.48286	.|D	.|0.000196	T|T	0.77870|0.77870	0.4195|0.4195	L|L	0.34521|0.34521	1.04|1.04	0.32490|0.32490	N|N	0.540319|0.540319	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74674	.|0.981;0.984	T|T	0.82303|0.82303	-0.0524|-0.0524	5|10	.|0.87932	.|D	.|0	-19.1121|-19.1121	11.8895|11.8895	0.52620|0.52620	0.1412:0.7306:0.1282:0.0|0.1412:0.7306:0.1282:0.0	.|.	.|2612;2420	.|O15021;O15021-3	.|MAST4_HUMAN;.	V|W	1665|2612;2609;2420;2430;2430;2415	.|ENSP00000385048:R2612W;ENSP00000385727:R2609W;ENSP00000384313:R2420W;ENSP00000384099:R2430W;ENSP00000261569:R2415W	.|ENSP00000261569:R2415W	A|R	+|+	2|1	0|2	MAST4|MAST4	66498588|66498588	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.195000|1.195000	0.32186|0.32186	1.388000|1.388000	0.46506|0.46506	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.592	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			12	109	0	0	0	1	0	12	109				
ECE1	1889	broad.mit.edu	37	1	21585263	21585263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21585263C>T	ENST00000374893.6	-	6	759	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ECE1_ENST00000415912.2_Missense_Mutation_p.A213T|ECE1_ENST00000436918.2_Missense_Mutation_p.A229T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T|ECE1_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000528294.1_5'Flank	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	229					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTAGTGGGCGGTGACCACC	0.597																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(637-639)Gcc>Acc		endothelin converting enzyme 1							191.0	148.0	163.0					1																	21585263		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21585263C>T	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.685G>A	1.37:g.21585263C>T	ENSP00000364028:p.Ala229Thr					ECE1_ENST00000374893.6_Missense_Mutation_p.A229T|ECE1_ENST00000436918.2_Missense_Mutation_p.A229T|ECE1_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T	p.A213T	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	6	762	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	229					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.637G>A	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886033	0.51908	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.1	3.15	0.36227	Peptidase M13 (1);	0.157018	0.56097	N	0.000028	T	0.65770	0.2723	L	0.50333	1.59	0.53688	D	0.999975	B;B;B;B;B	0.22146	0.031;0.065;0.033;0.015;0.053	B;B;B;B;B	0.21151	0.022;0.02;0.033;0.012;0.019	T	0.60762	-0.7199	10	0.59425	D	0.04	-26.2798	8.0527	0.30587	0.1784:0.7349:0.0:0.0867	.	229;213;229;217;226	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	T	213;217;229;229;226	ENSP00000405088:A213T;ENSP00000349581:A217T;ENSP00000364028:A229T;ENSP00000388439:A229T;ENSP00000264205:A226T	ENSP00000264205:A226T	A	-	1	0	ECE1	21457850	0.994000	0.37717	0.627000	0.29227	0.757000	0.42996	3.234000	0.51320	0.472000	0.27344	0.591000	0.81541	GCC		0.597	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		27	268	0	0	0	1	0	27	268				
N4BP2L2	10443	broad.mit.edu	37	13	33016813	33016813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33016813C>T	ENST00000504114.1	-	6	1907	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.E606K|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E621K			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCTGAGATTCGAAAGTCAAA	0.323																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1816-1818)Gaa>Aaa		NEDD4 binding protein 2-like 2							41.0	41.0	41.0					13																	33016813		1804	4066	5870	SO:0001583	missense	10443							g.chr13:33016813C>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1816G>A	13.37:g.33016813C>T	ENSP00000427477:p.Glu606Lys					N4BP2L2_ENST00000504114.1_Missense_Mutation_p.E606K|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E621K	p.E606K	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1920	-		Lung SC(185;0.0262)	0					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.1816G>A		.	.	.	.	.	.	.	.	.	.	C	0.535	-0.855970	0.02630	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.13	-0.447	0.12234	.	1.638090	0.03096	N	0.160384	T	0.12390	0.0301	N	0.01705	-0.755	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.27054	-1.0085	9	0.02654	T	1	0.0064	4.7777	0.13187	0.0:0.171:0.3034:0.5257	.	606;621;504;504	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	K	504;533;606;606;621	.	ENSP00000350104:E606K	E	-	1	0	N4BP2L2;RP11-298P3.4	31914813	0.002000	0.14202	0.013000	0.15412	0.029000	0.11900	0.222000	0.17699	-0.297000	0.08934	-0.378000	0.06908	GAA		0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		9	164	0	0	0	1	0	9	164				
CLEC14A	161198	broad.mit.edu	37	14	38724293	38724293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724293C>T	ENST00000342213.2	-	1	1281	c.935G>A	c.(934-936)aGc>aAc	p.S312N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	312						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGGCACGGGGCTGGTTGCAGT	0.627																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(934-936)aGc>aAc		C-type lectin domain family 14, member A							61.0	64.0	63.0					14																	38724293		2203	4299	6502	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724293C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.935G>A	14.37:g.38724293C>T	ENSP00000353013:p.Ser312Asn						p.S312N	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1281	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		312					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.935G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275745	0.40294	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.75050	-0.9	3.86	2.96	0.34315	.	.	.	.	.	T	0.64271	0.2583	L	0.32530	0.975	0.09310	N	1	P	0.40731	0.728	B	0.40477	0.33	T	0.55153	-0.8185	9	0.49607	T	0.09	-6.6257	9.6415	0.39842	0.0:0.7883:0.2117:0.0	.	312	Q86T13	CLC14_HUMAN	N	312;77	ENSP00000353013:S312N	ENSP00000353013:S312N	S	-	2	0	CLEC14A	37794044	0.479000	0.25925	0.039000	0.18376	0.008000	0.06430	-0.026000	0.12392	1.192000	0.43071	0.655000	0.94253	AGC		0.627	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		138	647	0	0	0	1	0	138	647				
TMC3	342125	broad.mit.edu	37	15	81666401	81666401	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81666401T>C	ENST00000359440.5	-	1	153	c.18A>G	c.(16-18)gcA>gcG	p.A6A	TMC3_ENST00000558726.1_Silent_p.A6A	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						AGCGCTGGGATGCCTTCGAGG	0.547																																						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.(16-18)gcA>gcG		transmembrane channel-like 3							76.0	76.0	76.0					15																	81666401		2050	4204	6254	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81666401T>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.18A>G	15.37:g.81666401T>C						TMC3_ENST00000359440.5_Silent_p.A6A	p.A6A			Q7Z5M5	TMC3_HUMAN			1	153	-			6						Silent	SNP	ENST00000359440.5	37	c.18A>G	CCDS45324.1																																																																																				0.547	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		21	94	0	0	0	1	0	21	94				
PAPLN	89932	broad.mit.edu	37	14	73733247	73733247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73733247G>A	ENST00000554301.1	+	23	3465	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	PAPLN_ENST00000427855.1_Missense_Mutation_p.R1101Q|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q|PAPLN_ENST00000555445.1_Missense_Mutation_p.R1085Q			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1101	Ig-like C2-type 2.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCATTAGCCGAGTGGCTGTA	0.602																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(3301-3303)cGa>cAa		papilin, proteoglycan-like sulfated glycoprotein							55.0	47.0	50.0					14																	73733247		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73733247G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3302G>A	14.37:g.73733247G>A	ENSP00000451803:p.Arg1101Gln					PAPLN_ENST00000555445.1_Missense_Mutation_p.R1085Q|PAPLN_ENST00000554301.1_Missense_Mutation_p.R1101Q|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q	p.R1101Q			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	24	3404	+			1101			Ig-like C2-type 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.3302G>A		.	.	.	.	.	.	.	.	.	.	G	9.985	1.229254	0.22542	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.8	-9.05	0.00730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17662	0.0424	N	0.21617	0.685	0.39908	D	0.973995	B;B;B;B	0.28082	0.018;0.2;0.145;0.17	B;B;B;B	0.22386	0.023;0.039;0.024;0.01	T	0.05582	-1.0876	9	0.39692	T	0.17	.	17.017	0.86422	0.1111:0.0945:0.7944:0.0	.	1085;1101;300;1074	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	Q	1074;1101;1101;1085	ENSP00000345395:R1074Q;ENSP00000403403:R1101Q;ENSP00000451803:R1101Q;ENSP00000451729:R1085Q	ENSP00000345395:R1074Q	R	+	2	0	PAPLN	72803000	0.000000	0.05858	0.004000	0.12327	0.435000	0.31806	-0.129000	0.10515	-1.380000	0.02115	-1.069000	0.02264	CGA		0.602	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		6	190	0	0	0	1	0	6	190				
RASA2	5922	broad.mit.edu	37	3	141291549	141291549	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141291549A>C	ENST00000452898.1	+	12	1303	c.1268A>C	c.(1267-1269)aAa>aCa	p.K423T	RASA2_ENST00000286364.3_Missense_Mutation_p.K423T	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	423	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GTAACATTAAAACCTATTCTT	0.373																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(1267-1269)aAa>aCa		RAS p21 protein activator 2							97.0	95.0	96.0					3																	141291549		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141291549A>C	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1268A>C	3.37:g.141291549A>C	ENSP00000391677:p.Lys423Thr					RASA2_ENST00000452898.1_Missense_Mutation_p.K423T	p.K423T			Q15283	RASA2_HUMAN			12	1303	+			423			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1268A>C		.	.	.	.	.	.	.	.	.	.	A	24.9	4.583093	0.86748	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.56769	1.78	0.80722	D	1	P;D;D;D	0.56746	0.867;0.977;0.972;0.977	P;D;D;D	0.69824	0.836;0.966;0.943;0.966	T	0.25363	-1.0134	10	0.56958	D	0.05	.	16.0916	0.81094	1.0:0.0:0.0:0.0	.	15;423;423;423	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	T	423;423;15	ENSP00000286364:K423T;ENSP00000391677:K423T	ENSP00000286364:K423T	K	+	2	0	RASA2	142774239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.186000	0.69663	0.533000	0.62120	AAA		0.373	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		55	244	0	0	0	1	0	55	244				
IGSF3	3321	broad.mit.edu	37	1	117159032	117159032	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117159032A>G	ENST00000369486.3	-	3	856	c.91T>C	c.(91-93)Tac>Cac	p.Y31H	IGSF3_ENST00000318837.6_Missense_Mutation_p.Y31H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Y31H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	31	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCCGTGCGGTACAAGGGTCCT	0.527																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(91-93)Tac>Cac		immunoglobulin superfamily, member 3							17.0	18.0	18.0					1																	117159032		1921	3846	5767	SO:0001583	missense	3321					integral to membrane		g.chr1:117159032A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.91T>C	1.37:g.117159032A>G	ENSP00000358498:p.Tyr31His					IGSF3_ENST00000318837.6_Missense_Mutation_p.Y31H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Y31H	p.Y31H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	856	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	31			Ig-like C2-type 1.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.91T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537755	0.65085	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64438	-0.1;-0.1;-0.1	4.65	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.424946	0.24710	N	0.036229	T	0.73187	0.3555	M	0.80847	2.515	0.35189	D	0.773203	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.79176	-0.1911	10	0.87932	D	0	-26.1169	12.0593	0.53555	1.0:0.0:0.0:0.0	.	31;31	O75054;A6NJZ6	IGSF3_HUMAN;.	H	31	ENSP00000358498:Y31H;ENSP00000358495:Y31H;ENSP00000321184:Y31H	ENSP00000321184:Y31H	Y	-	1	0	IGSF3	116960555	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	4.215000	0.58534	1.932000	0.55993	0.454000	0.30748	TAC		0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		22	189	0	0	0	1	0	22	189				
SRGAP3	9901	broad.mit.edu	37	3	9101937	9101937	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9101937T>C	ENST00000383836.3	-	6	1206	c.779A>G	c.(778-780)cAt>cGt	p.H260R	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	260	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGAGACATCATGGATGTAGTA	0.542			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(778-780)cAt>cGt		SLIT-ROBO Rho GTPase activating protein 3							197.0	171.0	180.0					3																	9101937		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9101937T>C	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.779A>G	3.37:g.9101937T>C	ENSP00000373347:p.His260Arg					SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R	p.H260R	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	6	1206	-			260					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.779A>G	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296143	0.81025	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.13089	2.62;2.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.82323	2.585	0.80722	D	1	D;B;D;D	0.59357	0.985;0.232;0.978;0.963	P;B;P;B	0.50659	0.541;0.135;0.647;0.444	T	0.12243	-1.0555	10	0.42905	T	0.14	.	14.8468	0.70267	0.0:0.0:0.0:1.0	.	260;129;260;260	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	R	260;260;140	ENSP00000373347:H260R;ENSP00000353587:H260R	ENSP00000353587:H260R	H	-	2	0	SRGAP3	9076937	1.000000	0.71417	0.970000	0.41538	0.943000	0.58893	7.810000	0.86072	1.992000	0.58205	0.377000	0.23210	CAT		0.542	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			22	481	0	0	0	1	0	22	481				
PCDHGA12	26025	broad.mit.edu	37	5	140811072	140811072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811072C>T	ENST00000252085.3	+	1	888	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	249	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTACCGCGCGAGCGTTCCG	0.637																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(745-747)gCg>gTg									53.0	55.0	54.0					5																	140811072		2203	4300	6503	SO:0001583	missense	0							g.chr5:140811072C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.746C>T	5.37:g.140811072C>T	ENSP00000252085:p.Ala249Val					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A249V	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	888	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.746C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.624354	0.00820	.	.	ENSG00000253159	ENST00000252085	T	0.52295	0.67	5.09	-1.7	0.08159	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.09949	0.0244	N	0.00289	-1.7	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.33266	-0.9875	9	0.02654	T	1	.	5.4684	0.16656	0.1142:0.2523:0.0:0.6335	.	249;249	O60330-2;O60330	.;PCDGC_HUMAN	V	249	ENSP00000252085:A249V	ENSP00000252085:A249V	A	+	2	0	PCDHGA12	140791256	0.977000	0.34250	0.129000	0.21949	0.489000	0.33432	1.584000	0.36589	-0.416000	0.07473	-1.707000	0.00718	GCG		0.637	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		23	437	0	0	0	1	0	23	437				
SPAG5	10615	broad.mit.edu	37	17	26919983	26919983	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26919983A>G	ENST00000321765.5	-	3	611	c.279T>C	c.(277-279)tgT>tgC	p.C93C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	93					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATTCATGCTGACAAGTTTCTA	0.423																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(277-279)tgT>tgC		sperm associated antigen 5							127.0	129.0	128.0					17																	26919983		2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919983A>G	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.279T>C	17.37:g.26919983A>G							p.C93C	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			3	611	-	Lung NSC(42;0.00431)		93					O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.279T>C	CCDS32594.1																																																																																				0.423	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		12	833	0	0	0	1	0	12	833				
MKI67	4288	broad.mit.edu	37	10	129907026	129907026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129907026C>T	ENST00000368654.3	-	13	3453	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Silent_p.K666K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1026	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGGGATGCCTTCAACTGTT	0.507																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3076-3078)aaG>aaA		marker of proliferation Ki-67							471.0	460.0	464.0					10																	129907026		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907026C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3078G>A	10.37:g.129907026C>T						MKI67_ENST00000368653.3_Silent_p.K666K	p.K1026K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3453	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1026			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.3078G>A	CCDS7659.1																																																																																				0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		527	1993	0	0	0	1	0	527	1993				
UNC13B	10497	broad.mit.edu	37	9	35403836	35403836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35403836C>T	ENST00000378495.3	+	39	4804	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	UNC13B_ENST00000396787.1_Silent_p.L1559L|ATP8B5P_ENST00000430846.1_RNA|UNC13B_ENST00000378496.4_Silent_p.L1547L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1528	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGTGCTAGGGCTGGCTGTGAT	0.587																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4582-4584)Ctg>Ttg		unc-13 homolog B (C. elegans)							90.0	85.0	87.0					9																	35403836		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35403836C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4582C>T	9.37:g.35403836C>T						UNC13B_ENST00000378496.4_Silent_p.L1547L|UNC13B_ENST00000396787.1_Silent_p.L1559L	p.L1528L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		39	4804	+	all_epithelial(49;0.212)		1528			C2 3.		Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.4582C>T	CCDS6579.1																																																																																				0.587	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		50	313	0	0	0	1	0	50	313				
RBM47	54502	broad.mit.edu	37	4	40440179	40440179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440179G>A	ENST00000381793.2	-	3	1128	c.732C>T	c.(730-732)acC>acT	p.T244T	RBM47_ENST00000514014.1_Silent_p.T206T|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000319592.4_Silent_p.T244T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.T244T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	244					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGATCTTCACGGTCTCCATCA	0.627																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(730-732)acC>acT		RNA binding motif protein 47							132.0	108.0	116.0					4																	40440179		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440179G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.732C>T	4.37:g.40440179G>A						RBM47_ENST00000381793.2_Silent_p.T244T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000381795.6_Silent_p.T244T|RBM47_ENST00000514014.1_Silent_p.T206T	p.T244T			A0AV96	RBM47_HUMAN			4	1441	-			244					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.732C>T	CCDS43223.1																																																																																				0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		115	503	0	0	0	1	0	115	503				
ACSM5	54988	broad.mit.edu	37	16	20442373	20442373	+	Missense_Mutation	SNP	C	C	T	rs113178652	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20442373C>T	ENST00000331849.4	+	9	1331	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	395					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGGGGAAGGCGTCCCCACCC	0.552																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1183-1185)gCg>gTg		acyl-CoA synthetase medium-chain family member 5							196.0	180.0	186.0					16																	20442373		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442373C>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1184C>T	16.37:g.20442373C>T	ENSP00000327916:p.Ala395Val						p.A395V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			9	1331	+			395					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1184C>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582553	0.65992	.	.	ENSG00000183549	ENST00000331849	T	0.40756	1.02	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.000000	0.52532	D	0.000069	T	0.57814	0.2079	L	0.59436	1.845	0.42229	D	0.991882	D	0.89917	1.0	P	0.61397	0.888	T	0.63915	-0.6529	10	0.72032	D	0.01	-15.9681	16.0686	0.80907	0.0:1.0:0.0:0.0	.	395	Q6NUN0	ACSM5_HUMAN	V	395	ENSP00000327916:A395V	ENSP00000327916:A395V	A	+	2	0	ACSM5	20349874	0.921000	0.31238	0.901000	0.35422	0.230000	0.25150	3.621000	0.54210	2.119000	0.64992	0.650000	0.86243	GCG		0.552	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		179	930	0	0	0	1	0	179	930				
DPEP3	64180	broad.mit.edu	37	16	68011244	68011244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68011244C>T	ENST00000268793.4	-	7	1395	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	316					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CATCACGATGCCACCGTTCTT	0.567																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(1021-1023)gGc>gAc		dipeptidase 3							162.0	125.0	137.0					16																	68011244		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68011244C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1022G>A	16.37:g.68011244C>T	ENSP00000268793:p.Gly341Asp						p.G341D	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	7	1395	-		Ovarian(137;0.192)	316					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1022G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522503	0.85600	.	.	ENSG00000141096	ENST00000268793	T	0.58940	0.3	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88955	0.3389	10	0.87932	D	0	-0.1207	16.2186	0.82243	0.0:1.0:0.0:0.0	.	316	Q9H4B8	DPEP3_HUMAN	D	341	ENSP00000268793:G341D	ENSP00000268793:G341D	G	-	2	0	DPEP3	66568745	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.945000	0.70226	2.420000	0.82092	0.655000	0.94253	GGC		0.567	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		32	128	0	0	0	1	0	32	128				
ZBTB20	26137	broad.mit.edu	37	3	114070337	114070337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070337G>A	ENST00000474710.1	-	4	766	c.588C>T	c.(586-588)aaC>aaT	p.N196N	ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20_ENST00000393785.2_Silent_p.N123N|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.N123N|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.N123N|ZBTB20_ENST00000462705.1_Silent_p.N123N|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.N123N	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	196						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATCGCCCACGTTCTGTGACA	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(367-369)aaC>aaT		zinc finger and BTB domain containing 20							75.0	62.0	66.0					3																	114070337		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070337G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.588C>T	3.37:g.114070337G>A						ZBTB20_ENST00000357258.3_Silent_p.N123N|ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20_ENST00000474710.1_Silent_p.N196N|ZBTB20_ENST00000393785.2_Silent_p.N123N|ZBTB20_ENST00000481632.1_Silent_p.N123N|ZBTB20_ENST00000464560.1_Silent_p.N123N	p.N123N	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1190	-			196			BTB.		Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.369C>T	CCDS54626.1																																																																																				0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		56	328	0	0	0	1	0	56	328				
CNTNAP3	79937	broad.mit.edu	37	9	39149958	39149958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39149958G>A	ENST00000297668.6	-	10	1567	c.1494C>T	c.(1492-1494)agC>agT	p.S498S	CNTNAP3_ENST00000358144.2_Silent_p.S410S|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000323947.7_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	498	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGAGCCAGAGCTGTTGTCCA	0.463																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1492-1494)agC>agT		contactin associated protein-like 3							24.0	26.0	25.0					9																	39149958		2202	4298	6500	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39149958G>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1494C>T	9.37:g.39149958G>A						CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000358144.2_Silent_p.S410S|CNTNAP3_ENST00000323947.7_Intron	p.S498S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	10	1567	-			498			Laminin G-like 2.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.1494C>T	CCDS6616.1																																																																																				0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		27	155	0	0	0	1	0	27	155				
OR11L1	391189	broad.mit.edu	37	1	248005130	248005130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248005130C>T	ENST00000355784.2	-	1	124	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGGGCCTGCCATTCAAGAA	0.488																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(67-69)tgG>tgA		olfactory receptor, family 11, subfamily L, member 1							65.0	59.0	61.0					1																	248005130		2203	4300	6503	SO:0001587	stop_gained	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248005130C>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.69G>A	1.37:g.248005130C>T	ENSP00000348033:p.Trp23*						p.W23*	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	124	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		23						Nonsense_Mutation	SNP	ENST00000355784.2	37	c.69G>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381564	0.82792	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.2	4.2	0.49525	.	0.000000	0.34484	U	0.003929	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.4167	0.44327	0.0:0.9079:0.0:0.0921	.	.	.	.	X	23	.	ENSP00000348033:W23X	W	-	3	0	OR11L1	246071753	0.000000	0.05858	0.989000	0.46669	0.767000	0.43475	-0.051000	0.11885	2.331000	0.79229	0.543000	0.68304	TGG		0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		16	241	0	0	0	1	0	16	241				
GABRA4	2557	broad.mit.edu	37	4	46979547	46979547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46979547G>A	ENST00000264318.3	-	4	1356	c.374C>T	c.(373-375)aCg>aTg	p.T125M		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	125					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCACACTTTCGTTACCATCAT	0.358																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(373-375)aCg>aTg		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						106.0	103.0	104.0					4																	46979547		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979547G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.374C>T	4.37:g.46979547G>A	ENSP00000264318:p.Thr125Met						p.T125M	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			4	1356	-			125					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.374C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500609	0.64298	.	.	ENSG00000109158	ENST00000264318	T	0.78003	-1.14	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101631	0.64402	D	0.000003	T	0.68632	0.3022	N	0.14661	0.345	0.38479	D	0.947676	P	0.45986	0.87	P	0.46237	0.508	T	0.75755	-0.3206	10	0.87932	D	0	.	13.8844	0.63699	0.0:0.1523:0.8477:0.0	.	125	P48169	GBRA4_HUMAN	M	125	ENSP00000264318:T125M	ENSP00000264318:T125M	T	-	2	0	GABRA4	46674304	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	2.977000	0.49297	2.776000	0.95493	0.650000	0.86243	ACG		0.358	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			60	246	0	0	0	1	0	60	246				
CNKSR3	154043	broad.mit.edu	37	6	154743640	154743640	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154743640C>A	ENST00000607772.1	-	9	1489	c.945G>T	c.(943-945)caG>caT	p.Q315H	CNKSR3_ENST00000433165.2_Splice_Site_p.Q140H|CNKSR3_ENST00000479339.1_Splice_Site_p.Q235H	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	315					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCCAGATACCTGTACAAGAG	0.438																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.e9+1		CNKSR family member 3							127.0	136.0	133.0					6																	154743640		2203	4300	6503	SO:0001630	splice_region_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154743640C>A	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.945+1G>T	6.37:g.154743640C>A						CNKSR3_ENST00000433165.2_Splice_Site_p.Q140_splice|CNKSR3_ENST00000479339.1_Splice_Site_p.Q235_splice	p.Q315_splice	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	9	1489	-		Ovarian(120;0.196)	315					Q5SGD5|Q96N65	Splice_Site	SNP	ENST00000607772.1	37	c.945_splice	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330836	0.60853	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	T;T;T;T	0.52983	1.22;0.64;0.64;0.76	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.54323	1.7	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	T	0.54016	-0.8356	9	.	.	.	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	315	Q6P9H4	CNKR3_HUMAN	H	90;315;140;235;77;140	ENSP00000356182:Q315H;ENSP00000414185:Q140H;ENSP00000418975:Q235H;ENSP00000406740:Q140H	.	Q	-	3	2	CNKSR3	154785332	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.416000	0.80143	2.656000	0.90262	0.655000	0.94253	CAG		0.438	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	Missense_Mutation	118	475	1	0	2.44049e-67	1	3.09122e-67	118	475				
SYDE2	84144	broad.mit.edu	37	1	85647833	85647833	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85647833A>G	ENST00000341460.5	-	3	2541	c.2492T>C	c.(2491-2493)gTg>gCg	p.V831A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	831	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGAAGGGGCACCATCAGTCC	0.333																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(2491-2493)gTg>gCg		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							46.0	41.0	42.0					1																	85647833		1817	4077	5894	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85647833A>G	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2492T>C	1.37:g.85647833A>G	ENSP00000340594:p.Val831Ala						p.V831A	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	2541	-			831			Rho-GAP.		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.2492T>C	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882579	0.72294	.	.	ENSG00000097096	ENST00000341460	T	0.50548	0.74	5.85	5.85	0.93711	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.978;0.997	T	0.71646	-0.4530	10	0.87932	D	0	.	16.2343	0.82363	1.0:0.0:0.0:0.0	.	831;831	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	A	831	ENSP00000340594:V831A	ENSP00000340594:V831A	V	-	2	0	SYDE2	85420421	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	GTG		0.333	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			6	55	0	0	0	1	0	6	55				
RAD54B	25788	broad.mit.edu	37	8	95390544	95390544	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95390544G>A	ENST00000336148.5	-	14	2503	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	793	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGGTGAGGTCGACAACTGCCC	0.353								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2377-2379)gtC>gtT	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							95.0	84.0	87.0					8																	95390544		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95390544G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2379C>T	8.37:g.95390544G>A							p.V793V	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		14	2503	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.2379C>T	CCDS6262.1																																																																																				0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		26	134	0	0	0	1	0	26	134				
NEB	4703	broad.mit.edu	37	2	152537333	152537333	+	Missense_Mutation	SNP	G	G	A	rs371287755		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152537333G>A	ENST00000172853.10	-	30	3100	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	NEB_ENST00000603639.1_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000397345.3_Missense_Mutation_p.R985C|NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000427231.2_Missense_Mutation_p.R985C			P20929	NEBU_HUMAN	nebulin	985					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGTTGGCGATATTTTTTC	0.353																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(2953-2955)Cgc>Tgc		nebulin		G	CYS/ARG,CYS/ARG,CYS/ARG	0,3746		0,0,1873	197.0	186.0	190.0		2953,2953,2953	5.7	1.0	2		190	1,8205		0,1,4102	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	180,180,180	0,1,5975	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging	985/8526,985/8526,985/6670	152537333	1,11951	1873	4103	5976	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152537333G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2953C>T	2.37:g.152537333G>A	ENSP00000172853:p.Arg985Cys					NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000603639.1_Missense_Mutation_p.R985C|NEB_ENST00000172853.10_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000427231.2_Missense_Mutation_p.R985C	p.R985C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	30	3155	-			985					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.2953C>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.840704	0.91197	0.0	1.22E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.13307	2.61;2.69;2.68;2.6	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58312	-0.7658	10	0.87932	D	0	.	18.5478	0.91053	0.0:0.0:1.0:0.0	.	985	P20929	NEBU_HUMAN	C	985	ENSP00000386259:R985C;ENSP00000380505:R985C;ENSP00000416578:R985C;ENSP00000172853:R985C	ENSP00000172853:R985C	R	-	1	0	NEB	152245579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.188000	0.58351	2.684000	0.91462	0.650000	0.86243	CGC		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		167	547	0	0	0	1	0	167	547				
PRLR	5618	broad.mit.edu	37	5	35065452	35065452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065452C>T	ENST00000382002.5	-	10	2034	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000310101.5_Missense_Mutation_p.A346T|PRLR_ENST00000511486.1_Silent_p.K435K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	536					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GAGTCCCGGGCTTCTTGGGCT	0.488																																						ENST00000310101.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1036-1038)Gcc>Acc		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						86.0	84.0	85.0					5																	35065452		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065452C>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1608G>A	5.37:g.35065452C>T						PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000382002.5_Silent_p.K536K|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Silent_p.K435K|PRLR_ENST00000542609.1_Intron	p.A346T	NM_001204315.1	NP_001191244.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		9	1035	-	all_lung(31;3.83e-05)		0					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1036G>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	4.643	0.119560	0.08881	.	.	ENSG00000113494	ENST00000310101	T	0.76316	-1.01	5.77	2.92	0.33932	.	.	.	.	.	T	0.71937	0.3399	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.63752	-0.6566	6	0.62326	D	0.03	-2.6829	3.6693	0.08268	0.1317:0.4836:0.2567:0.128	.	.	.	.	T	346	ENSP00000309008:A346T	ENSP00000309008:A346T	A	-	1	0	PRLR	35101209	0.002000	0.14202	0.076000	0.20297	0.003000	0.03518	-0.165000	0.09968	0.304000	0.22809	0.655000	0.94253	GCC		0.488	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			51	312	0	0	0	1	0	51	312				
MICAL1	64780	broad.mit.edu	37	6	109768629	109768629	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768629G>A	ENST00000358807.3	-	16	2312	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	MICAL1_ENST00000358577.3_Silent_p.T581T|MICAL1_ENST00000368952.4_Silent_p.T686T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	667					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGTACTTGGGGTCTCGGCCT	0.617																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2056-2058)acC>acT		microtubule associated monooxygenase, calponin and LIM domain containing 1							69.0	67.0	68.0					6																	109768629		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768629G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2001C>T	6.37:g.109768629G>A						MICAL1_ENST00000358807.3_Silent_p.T667T|MICAL1_ENST00000358577.3_Silent_p.T581T	p.T686T			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	16	2348	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	667					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2058C>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	3.365	-0.129682	0.06753	.	.	ENSG00000135596	ENST00000433205	.	.	.	5.59	-2.28	0.06826	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.36456	-0.9747	4	.	.	.	.	5.426	0.16425	0.5946:0.0:0.2594:0.1461	.	.	.	.	S	229	.	.	P	-	1	0	MICAL1	109875322	0.001000	0.12720	0.004000	0.12327	0.604000	0.37047	-0.429000	0.06982	-0.253000	0.09514	-0.169000	0.13324	CCC		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		17	232	0	0	0	1	0	17	232				
CDC42EP2	10435	broad.mit.edu	37	11	65088649	65088649	+	Missense_Mutation	SNP	C	C	T	rs200071372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65088649C>T	ENST00000544348.1	+	2	886	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	94					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CGTGTGTGGGCGGGAGCTCCC	0.672													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17844	0.001		0.0	False		,,,				2504	0.0					ENST00000544348.1																			0				lung(1)	1						c.(280-282)Cgg>Tgg		CDC42 effector protein (Rho GTPase binding) 2							65.0	66.0	66.0					11																	65088649		2201	4297	6498	SO:0001583	missense	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088649C>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.280C>T	11.37:g.65088649C>T	ENSP00000442534:p.Arg94Trp					CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W	p.R94W			O14613	BORG1_HUMAN			2	886	+			94					B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	c.280C>T	CCDS8099.1	89	0.04075091575091575	24	0.04878048780487805	9	0.024861878453038673	20	0.03496503496503497	36	0.047493403693931395	C	9.404	1.078776	0.20227	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.33865	1.39;1.39;1.39	5.06	3.13	0.36017	.	0.647764	0.14384	N	0.322973	T	0.07593	0.0191	L	0.44542	1.39	0.30127	N	0.805174	D	0.56746	0.977	P	0.47206	0.541	T	0.04347	-1.0958	10	0.56958	D	0.05	-23.6747	11.8157	0.52209	0.3186:0.6814:0.0:0.0	.	94	O14613	BORG1_HUMAN	W	94	ENSP00000279249:R94W;ENSP00000431660:R94W;ENSP00000442534:R94W	ENSP00000279249:R94W	R	+	1	2	CDC42EP2	64845225	0.000000	0.05858	0.091000	0.20842	0.289000	0.27227	0.349000	0.20055	0.673000	0.31224	0.467000	0.42956	CGG		0.672	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		44	398	0	0	0	1	0	44	398				
ST3GAL5	8869	broad.mit.edu	37	2	86094728	86094728	+	Intron	SNP	G	G	A	rs201747823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86094728G>A	ENST00000377332.3	-	2	191				ST3GAL5_ENST00000484728.1_Intron|ST3GAL5_ENST00000525834.2_Intron|ST3GAL5_ENST00000393808.3_Splice_Site_p.P5S|ST3GAL5_ENST00000393805.1_Intron	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5						carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ggggacttacgaacagaagcc	0.522																																						ENST00000393808.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.e1+1		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							71.0	77.0	75.0					2																	86094728		2050	4196	6246	SO:0001627	intron_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86094728G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.83-4120C>T	2.37:g.86094728G>A						ST3GAL5_ENST00000393805.1_Intron|ST3GAL5_ENST00000377332.3_Intron|ST3GAL5_ENST00000484728.1_Intron|ST3GAL5_ENST00000525834.2_Intron	p.P5_splice	NM_001042437.1	NP_001035902.1	Q9UNP4	SIAT9_HUMAN			1	49	-			0					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Splice_Site	SNP	ENST00000377332.3	37	c.13_splice	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.517282	0.00975	.	.	ENSG00000115525	ENST00000393808	T	0.27557	1.66	0.158	-0.317	0.12736	.	.	.	.	.	T	0.14657	0.0354	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29336	-1.0015	6	.	.	.	.	.	.	.	.	5	Q9UNP4-3	.	S	5	ENSP00000377397:P5S	.	P	-	1	0	ST3GAL5	85948239	0.004000	0.15560	0.008000	0.14137	0.008000	0.06430	-0.542000	0.06091	-1.029000	0.03317	-1.021000	0.02439	CCA		0.522	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		55	159	0	0	0	1	0	55	159				
STARD6	147323	broad.mit.edu	37	18	51851233	51851233	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851233A>G	ENST00000581310.1	-	9	865	c.492T>C	c.(490-492)taT>taC	p.Y164Y	STARD6_ENST00000307844.3_Silent_p.Y164Y|STARD6_ENST00000580990.2_Silent_p.Y40Y			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	164	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTAGTTTGGAATATGCTGGGT	0.333																																						ENST00000581310.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8						c.(490-492)taT>taC		StAR-related lipid transfer (START) domain containing 6							93.0	91.0	92.0					18																	51851233		2201	4300	6501	SO:0001819	synonymous_variant	147323				lipid transport		lipid binding	g.chr18:51851233A>G	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.492T>C	18.37:g.51851233A>G						STARD6_ENST00000307844.3_Silent_p.Y164Y|STARD6_ENST00000580990.2_Silent_p.Y40Y	p.Y164Y			P59095	STAR6_HUMAN		Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)	9	865	-			164			START.			Silent	SNP	ENST00000581310.1	37	c.492T>C	CCDS11955.1																																																																																				0.333	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		47	228	0	0	0	1	0	47	228				
UBE2R2	54926	broad.mit.edu	37	9	33922776	33922776	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33922776C>T	ENST00000263228.3	+	0	4075				UBAP2_ENST00000360802.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000379235.1_Missense_Mutation_p.G297D|UBAP2_ENST00000379239.4_Missense_Mutation_p.G791D|UBAP2_ENST00000449054.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000539807.1_Missense_Mutation_p.G813D|UBAP2_ENST00000379238.1_Missense_Mutation_p.G1058D	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GGGTGCATAGCCAGGGGCCGC	0.627																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(3172-3174)gGc>gAc		ubiquitin associated protein 2							59.0	67.0	64.0					9																	33922776		2203	4300	6503	SO:0001628	intergenic_variant	55833							g.chr9:33922776C>T	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33922776C>T						UBAP2_ENST00000449054.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000539807.1_Missense_Mutation_p.G813D|UBAP2_ENST00000360802.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000379239.4_Missense_Mutation_p.G791D|UBAP2_ENST00000379235.1_Missense_Mutation_p.G297D	p.G1058D			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	28	3290	-			1058					D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	c.3173G>A	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457153	0.43634	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.65	4.74	0.60224	.	0.043360	0.85682	D	0.000000	T	0.57577	0.2063	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;P	0.69142	0.962;0.962;0.948;0.889	T	0.65619	-0.6124	10	0.87932	D	0	-17.2814	16.0953	0.81117	0.1349:0.8651:0.0:0.0	.	813;791;967;1058	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	D	1058;1058;1058;967;297;791;813;492	ENSP00000368540:G1058D;ENSP00000416932:G1058D;ENSP00000354039:G1058D;ENSP00000368537:G297D;ENSP00000368541:G791D;ENSP00000439329:G813D	ENSP00000259602:G492D	G	-	2	0	UBAP2	33912776	1.000000	0.71417	0.996000	0.52242	0.489000	0.33432	5.587000	0.67510	1.607000	0.50170	-0.181000	0.13052	GGC		0.627	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		71	291	0	0	0	1	0	71	291				
EFHC1	114327	broad.mit.edu	37	6	52288769	52288769	+	Missense_Mutation	SNP	C	C	T	rs200435907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52288769C>T	ENST00000371068.5	+	2	192	c.89C>T	c.(88-90)aCg>aTg	p.T30M	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	30						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGAAGTCAGACGCTGAGCTAC	0.423																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(88-90)aCg>aTg		EF-hand domain (C-terminal) containing 1		C	MET/THR,MET/THR	0,4406		0,0,2203	79.0	77.0	78.0		32,89	6.0	1.0	6		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EFHC1	NM_001172420.1,NM_018100.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	11/622,30/641	52288769	1,13005	2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52288769C>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.89C>T	6.37:g.52288769C>T	ENSP00000360107:p.Thr30Met					EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M|EFHC1_ENST00000433625.2_5'UTR	p.T30M	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			2	192	+	Lung NSC(77;0.109)		30					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.89C>T	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976744	0.74360	0.0	1.16E-4	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.68624	-0.16;-0.34	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.78432	-0.2206	10	0.37606	T	0.19	-7.9389	20.4581	0.99154	0.0:1.0:0.0:0.0	.	11;30	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	M	30;11	ENSP00000360107:T30M;ENSP00000444521:T11M	ENSP00000360107:T30M	T	+	2	0	EFHC1	52396728	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	6.840000	0.75369	2.835000	0.97688	0.650000	0.86243	ACG		0.423	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		92	365	0	0	0	1	0	92	365				
NRD1	4898	broad.mit.edu	37	1	52302111	52302111	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52302111C>A	ENST00000354831.7	-	4	954		c.e4-1		NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000352171.7_Intron|NRD1_ENST00000544028.1_Intron|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTGCAGACCTAAGGAAAAA	0.463																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.e4-1		nardilysin (N-arginine dibasic convertase)							29.0	29.0	29.0					1																	52302111		2202	4300	6502	SO:0001630	splice_region_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52302111C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.765-1G>T	1.37:g.52302111C>A						NRD1_ENST00000352171.7_Intron|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site		NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			4	954	-								A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	ENST00000354831.7	37		CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082348	0.55861	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	.	.	.	6.08	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4518	0.50158	0.0:0.9176:0.0:0.0824	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52074699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.963000	0.29293	1.584000	0.49913	0.655000	0.94253	.		0.463	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Intron	22	121	1	0	2.70639e-06	1	2.78742e-06	22	121				
ZNF688	146542	broad.mit.edu	37	16	30581384	30581384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30581384C>T	ENST00000223459.6	-	3	1788	c.684G>A	c.(682-684)gcG>gcA	p.A228A	AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Silent_p.A214A	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCACTGGTGCGCTTCCACTG	0.721																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(682-684)gcG>gcA		zinc finger protein 688							13.0	15.0	14.0					16																	30581384		2188	4282	6470	SO:0001819	synonymous_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581384C>T	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.684G>A	16.37:g.30581384C>T						ZNF688_ENST00000395219.1_Silent_p.A214A	p.A228A	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1788	-			228					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	c.684G>A	CCDS10684.1																																																																																				0.721	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		27	103	0	0	0	1	0	27	103				
LPO	4025	broad.mit.edu	37	17	56326965	56326965	+	Missense_Mutation	SNP	C	C	T	rs140216571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326965C>T	ENST00000262290.4	+	6	798	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LPO_ENST00000582328.1_Missense_Mutation_p.A78V|LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000421678.2_Missense_Mutation_p.A78V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	161					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGGGCTCTGGCGCGCTGGCTG	0.716																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(481-483)gCg>gTg		lactoperoxidase							14.0	17.0	16.0					17																	56326965		2153	4215	6368	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56326965C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.482C>T	17.37:g.56326965C>T	ENSP00000262290:p.Ala161Val					LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000582328.1_Missense_Mutation_p.A78V|LPO_ENST00000421678.2_Missense_Mutation_p.A78V	p.A161V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			6	798	+			161					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.482C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609118	0.96637	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.70045	-0.45;-0.45;-0.45	5.45	5.45	0.79879	.	0.165981	0.53938	D	0.000050	T	0.74344	0.3704	L	0.48218	1.51	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;0.983;0.998;0.999	P;P;P;P	0.60173	0.735;0.468;0.806;0.87	T	0.70799	-0.4774	10	0.30078	T	0.28	.	18.2787	0.90092	0.0:1.0:0.0:0.0	.	78;78;102;161	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	V	161;78;102	ENSP00000262290:A161V;ENSP00000400245:A78V;ENSP00000445344:A102V	ENSP00000262290:A161V	A	+	2	0	LPO	53681964	0.934000	0.31675	1.000000	0.80357	0.977000	0.68977	0.792000	0.26929	2.543000	0.85770	0.655000	0.94253	GCG		0.716	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			30	131	0	0	0	1	0	30	131				
SOCS4	122809	broad.mit.edu	37	14	55510090	55510090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55510090C>T	ENST00000395472.2	+	2	663	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	SOCS4_ENST00000339298.2_Missense_Mutation_p.R111W|SOCS4_ENST00000555846.1_Missense_Mutation_p.R111W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	111					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTGTAGTAGTCGGCACTCTTC	0.428																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(331-333)Cgg>Tgg		suppressor of cytokine signaling 4							79.0	81.0	80.0					14																	55510090		2203	4299	6502	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510090C>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.331C>T	14.37:g.55510090C>T	ENSP00000378855:p.Arg111Trp					SOCS4_ENST00000555846.1_Missense_Mutation_p.R111W|SOCS4_ENST00000339298.2_Missense_Mutation_p.R111W	p.R111W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	663	+			111						Missense_Mutation	SNP	ENST00000395472.2	37	c.331C>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855838	0.71834	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.33438	1.41;1.41;1.41	5.52	5.52	0.82312	.	0.180736	0.37906	N	0.001883	T	0.50684	0.1630	L	0.44542	1.39	0.51233	D	0.999913	D	0.89917	1.0	D	0.76071	0.987	T	0.49597	-0.8923	10	0.72032	D	0.01	-13.5262	19.4425	0.94827	0.0:1.0:0.0:0.0	.	111	Q8WXH5	SOCS4_HUMAN	W	111	ENSP00000378855:R111W;ENSP00000452522:R111W;ENSP00000341327:R111W	ENSP00000341327:R111W	R	+	1	2	SOCS4	54579843	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	3.459000	0.53021	2.594000	0.87642	0.655000	0.94253	CGG		0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			10	560	0	0	0	1	0	10	560				
VPRBP	9730	broad.mit.edu	37	3	51517735	51517735	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51517735C>A	ENST00000335891.5	-	1	119	c.110G>T	c.(109-111)aGg>aTg	p.R37M				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	37					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTATTCATACCTGGTAAGGAT	0.443																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.e1+1		Vpr (HIV-1) binding protein							113.0	102.0	105.0					3																	51517735		1893	4107	6000	SO:0001630	splice_region_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51517735C>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.110+1G>T	3.37:g.51517735C>A							p.R37_splice			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	1	119	-			37					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Splice_Site	SNP	ENST00000335891.5	37	c.110_splice		.	.	.	.	.	.	.	.	.	.	C	22.0	4.229696	0.79688	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.61040	0.14;0.59	4.95	4.95	0.65309	.	0.086238	0.85682	D	0.000000	T	0.62780	0.2456	M	0.61703	1.905	0.30541	N	0.766426	P	0.47910	0.902	P	0.47981	0.563	T	0.65709	-0.6102	9	.	.	.	-9.4898	16.5015	0.84257	0.0:1.0:0.0:0.0	.	37	Q9Y4B6	VPRBP_HUMAN	M	37	ENSP00000338857:R37M;ENSP00000421724:R37M	.	R	-	2	0	VPRBP	51492775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.121000	0.57904	2.729000	0.93468	0.655000	0.94253	AGG		0.443	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	Missense_Mutation	79	380	1	0	1.25742e-37	1	1.51121e-37	79	380				
ARSG	22901	broad.mit.edu	37	17	66339816	66339816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66339816G>A	ENST00000448504.2	+	3	1086	c.290G>A	c.(289-291)gGc>gAc	p.G97D	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	97					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCCGGCTTGGCCTTCGCAAT	0.612																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(289-291)gGc>gAc		arylsulfatase G							72.0	61.0	65.0					17																	66339816		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66339816G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.290G>A	17.37:g.66339816G>A	ENSP00000407193:p.Gly97Asp					ARSG_ENST00000452479.2_5'UTR	p.G97D	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1086	+			97					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.290G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746529	0.89663	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.86	4.86	0.63082	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85275	0.1058	9	0.51188	T	0.08	.	17.7751	0.88504	0.0:0.0:1.0:0.0	.	97	Q96EG1	ARSG_HUMAN	D	97	.	ENSP00000413953:G97D	G	+	2	0	ARSG	63851411	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.229000	0.89791	2.514000	0.84764	0.650000	0.86243	GGC		0.612	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		60	259	0	0	0	1	0	60	259				
NR2C1	7181	broad.mit.edu	37	12	95422177	95422177	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422177A>G	ENST00000333003.5	-	12	1847	c.1517T>C	c.(1516-1518)gTa>gCa	p.V506A	NR2C1_ENST00000545833.1_5'Flank	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	506					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ACTGAAGAGTACTATTGCCTT	0.358																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1516-1518)gTa>gCa		nuclear receptor subfamily 2, group C, member 1							106.0	95.0	99.0					12																	95422177		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95422177A>G	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1517T>C	12.37:g.95422177A>G	ENSP00000333275:p.Val506Ala						p.V506A	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			12	1847	-			506					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.1517T>C	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297574	0.60086	.	.	ENSG00000120798	ENST00000333003	D	0.96716	-4.1	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055467	0.64402	D	0.000001	D	0.93112	0.7807	L	0.43554	1.36	0.80722	D	1	B	0.17465	0.022	B	0.18263	0.021	D	0.89908	0.4049	10	0.46703	T	0.11	.	9.6208	0.39721	0.9215:0.0:0.0785:0.0	.	506	P13056	NR2C1_HUMAN	A	506	ENSP00000333275:V506A	ENSP00000333275:V506A	V	-	2	0	NR2C1	93946308	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.574000	0.82434	1.960000	0.56953	0.460000	0.39030	GTA		0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		32	149	0	0	0	1	0	32	149				
MBTD1	54799	broad.mit.edu	37	17	49272664	49272664	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49272664G>T	ENST00000586178.1	-	13	1626	c.1283C>A	c.(1282-1284)tCt>tAt	p.S428Y	MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	428					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAACCAGTCAGATCCGTCTGC	0.433																																						ENST00000586178.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1282-1284)tCt>tAt		mbt domain containing 1							117.0	99.0	105.0					17																	49272664		2203	4300	6503	SO:0001583	missense	0				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49272664G>T	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1283C>A	17.37:g.49272664G>T	ENSP00000468304:p.Ser428Tyr					MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y|MBTD1_ENST00000376381.2_Intron	p.S428Y	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		13	1626	-			428					Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.1283C>A	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997708	0.93227	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.47177	0.85	5.36	5.36	0.76844	.	0.124037	0.64402	D	0.000020	T	0.64724	0.2624	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.64558	-0.6379	10	0.56958	D	0.05	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	428;264	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	Y	428	ENSP00000403946:S428Y	ENSP00000386072:S428Y	S	-	2	0	MBTD1	46627663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.665000	0.90641	0.643000	0.83706	TCT		0.433	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			30	318	1	0	1.55811e-20	1	1.74671e-20	30	318				
CLK1	1195	broad.mit.edu	37	2	201722711	201722711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722711T>C	ENST00000321356.4	-	6	785	c.650A>G	c.(649-651)gAc>gGc	p.D217G	CLK1_ENST00000434813.2_Missense_Mutation_p.D259G|CLK1_ENST00000409769.2_Missense_Mutation_p.D40G|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGTTGGGGTCTGTTGTATT	0.358																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(775-777)gAc>gGc		CDC-like kinase 1							154.0	152.0	153.0					2																	201722711		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722711T>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.650A>G	2.37:g.201722711T>C	ENSP00000326830:p.Asp217Gly					CLK1_ENST00000321356.4_Missense_Mutation_p.D217G|CLK1_ENST00000409769.2_Missense_Mutation_p.D40G	p.D259G	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			6	1110	-			217			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.776A>G	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978869	0.74360	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.64085	-0.08;-0.08;-0.08	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	L	0.48935	1.535	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.998;1.0	T	0.76680	-0.2870	10	0.87932	D	0	.	15.4044	0.74866	0.0:0.0:0.0:1.0	.	259;187;217;40	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	G	217;187;40;259	ENSP00000326830:D217G;ENSP00000386358:D40G;ENSP00000394734:D259G	ENSP00000326830:D217G	D	-	2	0	CLK1	201430956	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.997000	0.88414	2.178000	0.69098	0.460000	0.39030	GAC		0.358	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			72	452	0	0	0	1	0	72	452				
SEC24A	10802	broad.mit.edu	37	5	133997159	133997159	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133997159A>T	ENST00000398844.2	+	2	736	c.448A>T	c.(448-450)Aac>Tac	p.N150Y	SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	150	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)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|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)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCACAAACAAACCATTGTCC	0.408																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(448-450)Aac>Tac		SEC24 family member A							118.0	117.0	117.0					5																	133997159		1991	4165	6156	SO:0001583	missense	10802				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.chr5:133997159A>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.448A>T	5.37:g.133997159A>T	ENSP00000381823:p.Asn150Tyr					SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	p.N150Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	736	+			150			Pro-rich.		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.448A>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642853	0.47153	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97232	-4.3;-4.3	5.77	4.61	0.57282	.	0.312847	0.35615	N	0.003091	D	0.95771	0.8624	L	0.59436	1.845	0.27270	N	0.958396	D	0.56521	0.976	P	0.51016	0.656	D	0.89294	0.3621	10	0.06757	T	0.87	-5.5629	11.8303	0.52290	0.9314:0.0:0.0686:0.0	.	150	O95486	SC24A_HUMAN	Y	150	ENSP00000381823:N150Y;ENSP00000321749:N150Y	ENSP00000321749:N150Y	N	+	1	0	SEC24A	134025058	1.000000	0.71417	0.998000	0.56505	0.238000	0.25445	4.422000	0.59854	1.002000	0.39104	0.533000	0.62120	AAC		0.408	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			22	436	0	0	0	1	0	22	436				
C16orf71	146562	broad.mit.edu	37	16	4786573	4786573	+	Missense_Mutation	SNP	A	A	C	rs201035593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4786573A>C	ENST00000299320.5	+	2	536	c.58A>C	c.(58-60)Atg>Ctg	p.M20L	ANKS3_ENST00000585773.1_5'Flank|ANKS3_ENST00000450067.2_5'Flank|ANKS3_ENST00000592711.1_5'Flank|ANKS3_ENST00000304283.4_5'Flank|C16orf71_ENST00000590191.1_Missense_Mutation_p.M20L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	20										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCCTCCCAGATGGGGCCCTG	0.592																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(58-60)Atg>Ctg		chromosome 16 open reading frame 71							67.0	66.0	66.0					16																	4786573		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4786573A>C	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.58A>C	16.37:g.4786573A>C	ENSP00000299320:p.Met20Leu					C16orf71_ENST00000590191.1_Missense_Mutation_p.M20L|RP11-127I20.7_ENST00000588099.1_RNA	p.M20L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			2	536	+			20					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.58A>C	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.209884	0.01555	.	.	ENSG00000166246	ENST00000299320	T	0.11604	2.76	1.47	0.336	0.15958	.	0.941963	0.08679	U	0.909651	T	0.07098	0.0180	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43426	-0.9392	10	0.25106	T	0.35	.	4.0857	0.09947	0.5859:0.0:0.4141:0.0	.	20	Q8IYS4	CP071_HUMAN	L	20	ENSP00000299320:M20L	ENSP00000299320:M20L	M	+	1	0	C16orf71	4726574	0.005000	0.15991	0.126000	0.21872	0.014000	0.08584	0.408000	0.21065	0.079000	0.16929	-0.441000	0.05720	ATG		0.592	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		79	315	0	0	0	1	0	79	315				
ZNF221	7638	broad.mit.edu	37	19	44470613	44470613	+	Missense_Mutation	SNP	G	G	A	rs140615014	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44470613G>A	ENST00000251269.5	+	6	1287	c.959G>A	c.(958-960)cGt>cAt	p.R320H	ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H|ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGAGCTTCCGTGTTAGATCA	0.413													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		23266	0.0		0.0	False		,,,				2504	0.0					ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(958-960)cGt>cAt		zinc finger protein 221		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	165.0	164.0	164.0		959	-1.7	0.0	19	dbSNP_134	164	0,8600		0,0,4300	yes	missense	ZNF221	NM_013359.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	320/618	44470613	1,13005	2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470613G>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.959G>A	19.37:g.44470613G>A	ENSP00000251269:p.Arg320His					ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H|ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H	p.R320H	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			6	1287	+		Prostate(69;0.0352)	320					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.959G>A	CCDS12633.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	g	11.78	1.740126	0.30865	2.27E-4	0.0	ENSG00000159905	ENST00000251269	T	0.07567	3.18	2.59	-1.74	0.08056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.21617	0.685	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.43376	-0.9395	9	0.29301	T	0.29	.	4.6045	0.12371	0.2389:0.3438:0.4173:0.0	.	320	Q9UK13	ZN221_HUMAN	H	320	ENSP00000251269:R320H	ENSP00000251269:R320H	R	+	2	0	ZNF221	49162453	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.269000	0.08596	-0.021000	0.14009	0.462000	0.41574	CGT		0.413	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			165	735	0	0	0	1	0	165	735				
VEPH1	79674	broad.mit.edu	37	3	157034982	157034982	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157034982T>C	ENST00000362010.2	-	10	2051	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G	RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	582						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAACTTCTCACAGTGTCT	0.378																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1744-1746)Aga>Gga		ventricular zone expressed PH domain-containing 1							127.0	118.0	121.0					3																	157034982		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157034982T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1744A>G	3.37:g.157034982T>C	ENSP00000354919:p.Arg582Gly					VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G|VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000487238.1_RNA	p.R582G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		10	2051	-			582					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1744A>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	7.140	0.581722	0.13749	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08282	3.11;3.13;3.11;3.13	5.46	3.06	0.35304	.	0.222976	0.46758	D	0.000273	T	0.07908	0.0198	L	0.44542	1.39	0.36912	D	0.890968	B;B	0.16396	0.002;0.017	B;B	0.15870	0.004;0.014	T	0.14035	-1.0487	10	0.42905	T	0.14	-7.5471	9.0914	0.36612	0.0:0.1564:0.0:0.8436	.	582;582	Q14D04-2;Q14D04	.;MELT_HUMAN	G	582	ENSP00000376578:R582G;ENSP00000354919:R582G;ENSP00000446258:R582G;ENSP00000376577:R582G	ENSP00000354919:R582G	R	-	1	2	VEPH1	158517676	0.325000	0.24660	0.534000	0.28014	0.603000	0.37013	1.031000	0.30165	0.929000	0.37192	0.533000	0.62120	AGA		0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		22	364	0	0	0	1	0	22	364				
DHCR24	1718	broad.mit.edu	37	1	55319794	55319794	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55319794G>A	ENST00000371269.3	-	7	1232	c.1134C>T	c.(1132-1134)taC>taT	p.Y378Y	DHCR24_ENST00000535035.1_Silent_p.Y337Y|DHCR24_ENST00000537443.1_Silent_p.Y162Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	378					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGTGCTGCTCGTACAGCTTGC	0.607																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1132-1134)taC>taT		24-dehydrocholesterol reductase							78.0	73.0	75.0					1																	55319794		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55319794G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1134C>T	1.37:g.55319794G>A						DHCR24_ENST00000537443.1_Silent_p.Y162Y|DHCR24_ENST00000535035.1_Silent_p.Y337Y	p.Y378Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			7	1232	-			378					B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.1134C>T	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093682	0.20471	.	.	ENSG00000116133	ENST00000436604	.	.	.	5.06	-2.13	0.07144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.6313	13.0848	0.59133	0.6011:0.0:0.3989:0.0	.	.	.	.	X	16	.	.	R	-	1	2	DHCR24	55092382	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-1.693000	0.01917	-0.305000	0.08831	0.561000	0.74099	CGA		0.607	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		38	131	0	0	0	1	0	38	131				
IFI16	3428	broad.mit.edu	37	1	158984471	158984471	+	Start_Codon_SNP	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158984471A>G	ENST00000295809.7	+	2	256	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	IFI16_ENST00000340979.6_Start_Codon_SNP_p.M1V|IFI16_ENST00000448393.2_Start_Codon_SNP_p.M1V|IFI16_ENST00000430894.2_Missense_Mutation_p.M5V|IFI16_ENST00000368131.4_Start_Codon_SNP_p.M1V|IFI16_ENST00000359709.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000368132.3_Start_Codon_SNP_p.M1V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	1	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTCTGTAAAGATGGGAAAAAA	0.328																																						ENST00000430894.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(13-15)Atg>Gtg		interferon, gamma-inducible protein 16							52.0	54.0	54.0					1																	158984471		2203	4298	6501	SO:0001582	initiator_codon_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158984471A>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1A>G	1.37:g.158984471A>G	ENSP00000295809:p.Met1Val					IFI16_ENST00000340979.6_Start_Codon_SNP_p.M1V|IFI16_ENST00000359709.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000448393.2_Start_Codon_SNP_p.M1V|IFI16_ENST00000368132.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000368131.4_Start_Codon_SNP_p.M1V|IFI16_ENST00000295809.7_Start_Codon_SNP_p.M1V	p.M5V			Q16666	IF16_HUMAN			2	173	+	all_hematologic(112;0.0429)		1			DAPIN.|Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.13A>G		.	.	.	.	.	.	.	.	.	.	.	9.694	1.152654	0.21371	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.28454	3.38;1.61;1.93;3.21;3.21;3.23;3.23;3.33	3.14	3.14	0.36123	Pyrin (1);	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	D;P;D	0.63880	0.993;0.954;0.993	D;D;D	0.68192	0.956;0.916;0.956	T	0.38520	-0.9657	8	0.87932	D	0	.	8.0366	0.30496	1.0:0.0:0.0:0.0	.	5;1;1	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	V	1;1;1;1;1;1;1;5	ENSP00000352740:M1V;ENSP00000406406:M1V;ENSP00000407052:M1V;ENSP00000295809:M1V;ENSP00000342741:M1V;ENSP00000357113:M1V;ENSP00000357114:M1V;ENSP00000394935:M5V	ENSP00000295809:M1V	M	+	1	0	IFI16	157251095	0.991000	0.36638	0.313000	0.25210	0.017000	0.09413	3.185000	0.50934	1.657000	0.50732	0.374000	0.22700	ATG		0.328	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531	Missense_Mutation	81	242	0	0	0	1	0	81	242				
L3MBTL2	83746	broad.mit.edu	37	22	41620065	41620065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41620065G>A	ENST00000216237.5	+	9	1142	c.984G>A	c.(982-984)cgG>cgA	p.R328R		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGCATGCGGCTGGAAGTGG	0.597																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(982-984)cgG>cgA		l(3)mbt-like 2 (Drosophila)							118.0	79.0	92.0					22																	41620065		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620065G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.984G>A	22.37:g.41620065G>A							p.R328R	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1142	+			328					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.984G>A	CCDS14011.1																																																																																				0.597	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		7	350	0	0	0	1	0	7	350				
KCNH3	23416	broad.mit.edu	37	12	49942829	49942829	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942829G>A	ENST00000257981.6	+	8	1601	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	447					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCGGCCCGTCGCTGCGCAGCG	0.672																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1339-1341)tcG>tcA		potassium voltage-gated channel, subfamily H (eag-related), member 3							34.0	33.0	33.0					12																	49942829		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49942829G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1341G>A	12.37:g.49942829G>A							p.S447S	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			8	1601	+			447					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.1341G>A	CCDS8786.1																																																																																				0.672	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		7	202	0	0	0	1	0	7	202				
FOXP2	93986	broad.mit.edu	37	7	114269970	114269970	+	Silent	SNP	G	G	A	rs576887296|rs398124272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114269970G>A	ENST00000393494.2	+	5	786	c.507G>A	c.(505-507)caG>caA	p.Q169Q	FOXP2_ENST00000393498.2_Silent_p.Q149Q|FOXP2_ENST00000393500.3_Silent_p.Q94Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q186Q|FOXP2_ENST00000378237.3_Silent_p.Q169Q|FOXP2_ENST00000350908.4_Silent_p.Q169Q|FOXP2_ENST00000393489.3_Silent_p.Q77Q|FOXP2_ENST00000360232.4_Silent_p.Q169Q|FOXP2_ENST00000408937.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q77Q|FOXP2_ENST00000390668.3_Silent_p.Q193Q			O15409	FOXP2_HUMAN	forkhead box P2	169	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacagcagcagcaacaacaac	0.502																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(280-282)caG>caA		forkhead box P2							36.0	35.0	35.0					7																	114269970		2203	4292	6495	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269970G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.507G>A	7.37:g.114269970G>A						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q186Q|FOXP2_ENST00000393489.3_Silent_p.Q77Q|FOXP2_ENST00000360232.4_Silent_p.Q169Q|FOXP2_ENST00000378237.3_Silent_p.Q169Q|FOXP2_ENST00000408937.3_Silent_p.Q194Q|FOXP2_ENST00000393498.2_Silent_p.Q149Q|FOXP2_ENST00000350908.4_Silent_p.Q169Q|FOXP2_ENST00000393491.3_Silent_p.Q77Q|FOXP2_ENST00000393494.2_Silent_p.Q169Q|FOXP2_ENST00000390668.3_Silent_p.Q193Q	p.Q94Q			O15409	FOXP2_HUMAN			11	1102	+			169			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.282G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		35	213	0	0	0	1	0	35	213				
PLIN3	10226	broad.mit.edu	37	19	4852162	4852162	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4852162G>A	ENST00000221957.4	-	5	676	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F|PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	167					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCACTACGGACTTTGTCTT	0.657											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(499-501)tCc>tTc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						77.0	58.0	64.0					19																	4852162		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4852162G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.500C>T	19.37:g.4852162G>A	ENSP00000221957:p.Ser167Phe		OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F|PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F	p.S167F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			5	676	-			167					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.500C>T	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532738	0.45073	.	.	ENSG00000105355	ENST00000221957	T	0.04275	3.66	4.95	2.69	0.31865	.	0.679439	0.14052	U	0.344650	T	0.23766	0.0575	M	0.83953	2.67	0.35540	D	0.802987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.28964	-1.0027	10	0.87932	D	0	-11.6118	14.4207	0.67180	0.0:0.2818:0.7182:0.0	.	167;167	O60664-3;O60664	.;PLIN3_HUMAN	F	167	ENSP00000221957:S167F	ENSP00000221957:S167F	S	-	2	0	PLIN3	4803162	0.976000	0.34144	0.095000	0.20976	0.014000	0.08584	2.719000	0.47244	0.425000	0.26087	0.555000	0.69702	TCC		0.657	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		20	176	0	0	0	1	0	20	176				
FOLH1B	219595	broad.mit.edu	37	11	89424667	89424667	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89424667C>T	ENST00000532352.1	+	0	1830							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCAAGTTCAGCGAGAGACTCC	0.279																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							59.0	60.0	60.0					11																	89424667		2201	4294	6495			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424667C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424667C>T										Q9HBA9	FOH1B_HUMAN			0	1830	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.279	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		27	187	0	0	0	1	0	27	187				
NSUN4	387338	broad.mit.edu	37	1	46827244	46827244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827244C>A	ENST00000474844.1	+	6	1531	c.881C>A	c.(880-882)gCt>gAt	p.A294D	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	294					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGTTTCAGGGCTGGACTCCTT	0.493																																						ENST00000474844.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(880-882)gCt>gAt		NOP2/Sun domain family, member 4							131.0	112.0	119.0					1																	46827244		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46827244C>A	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.881C>A	1.37:g.46827244C>A	ENSP00000419740:p.Ala294Asp					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D	p.A294D	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN			6	1531	+	Acute lymphoblastic leukemia(166;0.155)		294					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.881C>A	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304266	0.81136	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.27402	1.67;1.67;1.67	5.43	5.43	0.79202	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	M	0.84082	2.675	0.80722	D	1	D;D	0.65815	0.995;0.985	D;P	0.63877	0.919;0.889	T	0.61821	-0.6984	10	0.62326	D	0.03	-13.8516	17.5969	0.88014	0.0:1.0:0.0:0.0	.	161;294	B3KUM0;Q96CB9	.;NSUN4_HUMAN	D	294;245;245	ENSP00000419740:A294D;ENSP00000438912:A245D;ENSP00000437758:A245D	ENSP00000419740:A294D	A	+	2	0	NSUN4	46599831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.824000	0.97209	0.655000	0.94253	GCT		0.493	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		36	301	1	0	6.53348e-20	1	7.30415e-20	36	301				
CTDNEP1	23399	broad.mit.edu	37	17	7147563	7147563	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7147563A>G	ENST00000573600.1	-	9	1097	c.676T>C	c.(676-678)Ttc>Ctc	p.F226L	CTD-2545G14.7_ENST00000570760.2_Intron|CTDNEP1_ENST00000574322.1_Splice_Site_p.F226L|GABARAP_ENST00000571253.1_5'Flank|CTDNEP1_ENST00000572043.1_Splice_Site_p.F93L|GABARAP_ENST00000302386.5_5'Flank|GABARAP_ENST00000573928.1_5'Flank|GABARAP_ENST00000577035.1_5'Flank|CTDNEP1_ENST00000318988.6_Splice_Site_p.F226L|GABARAP_ENST00000571129.1_5'Flank			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	226					gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGCGGTGAACCTGGGGTGA	0.522																																						ENST00000573600.1																			0				central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.e9-1		CTD nuclear envelope phosphatase 1							119.0	91.0	100.0					17																	7147563		2203	4299	6502	SO:0001630	splice_region_variant	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7147563A>G	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.675-1T>C	17.37:g.7147563A>G						CTD-2545G14.7_ENST00000570760.2_Intron|CTDNEP1_ENST00000318988.6_Splice_Site_p.F226_splice|CTDNEP1_ENST00000572043.1_Splice_Site_p.F93_splice|CTDNEP1_ENST00000574322.1_Splice_Site_p.F226_splice	p.F226_splice			O95476	CNEP1_HUMAN			9	1097	-			226					D3DTN7|Q96GQ9	Splice_Site	SNP	ENST00000573600.1	37	c.674_splice	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452410	0.84209	.	.	ENSG00000175826	ENST00000318988	T	0.16743	2.32	4.72	4.72	0.59763	NLI interacting factor (1);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21793	-1.0235	10	0.08179	T	0.78	-14.8032	10.5174	0.44898	1.0:0.0:0.0:0.0	.	226	O95476	CNEP1_HUMAN	L	226	ENSP00000321732:F226L	ENSP00000321732:F226L	F	-	1	0	CTDNEP1	7088287	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.239000	0.78182	1.973000	0.57446	0.459000	0.35465	TTC		0.522	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343	Missense_Mutation	5	164	0	0	0	1	0	5	164				
UBXN8	7993	broad.mit.edu	37	8	30623764	30623764	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30623764A>G	ENST00000519246.1	+	0	865							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						CTGGATGACGAGAATTGGGTA	0.438																																					Colon(169;855 1943 17895 39459 47884)	ENST00000519246.1																			0				central_nervous_system(1)|lung(2)	3								UBX domain protein 8							79.0	75.0	76.0					8																	30623764		1872	4106	5978			7993				single fertilization			g.chr8:30623764A>G	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30623764A>G										O00124	UBXN8_HUMAN			0	865	+								Q7Z6F2	RNA	SNP	ENST00000519246.1	37																																																																																						0.438	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		36	210	0	0	0	1	0	36	210				
SCFD2	152579	broad.mit.edu	37	4	54011686	54011686	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54011686T>C	ENST00000401642.3	-	5	1508	c.1375A>G	c.(1375-1377)Acc>Gcc	p.T459A	SCFD2_ENST00000388940.4_Missense_Mutation_p.T459A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	459					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTCTCTGGGTTACAGGCTTA	0.423																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1375-1377)Acc>Gcc		sec1 family domain containing 2							123.0	128.0	126.0					4																	54011686		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54011686T>C	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1375A>G	4.37:g.54011686T>C	ENSP00000384182:p.Thr459Ala					SCFD2_ENST00000388940.4_Missense_Mutation_p.T459A	p.T459A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		5	1508	-			459					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1375A>G	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.662885	0.00772	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.42131	0.98;0.98	5.11	-0.24	0.13047	.	1.330310	0.04976	N	0.464877	T	0.20088	0.0483	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12553	-1.0543	10	0.07813	T	0.8	.	1.7077	0.02885	0.1245:0.21:0.1296:0.5359	.	459;459	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	A	459	ENSP00000384182:T459A;ENSP00000373592:T459A	ENSP00000373592:T459A	T	-	1	0	SCFD2	53706443	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.084000	0.14891	-0.147000	0.11254	0.460000	0.39030	ACC		0.423	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		8	532	0	0	0	1	0	8	532				
EXOSC8	11340	broad.mit.edu	37	13	37582916	37582916	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37582916G>T	ENST00000389704.3	+	10	924	c.659G>T	c.(658-660)gGa>gTa	p.G220V		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	220					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTGGCAACAGGAACCTTAACA	0.378																																						ENST00000389704.3																			0				biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7						c.(658-660)gGa>gTa		exosome component 8							90.0	82.0	85.0					13																	37582916		2203	4300	6503	SO:0001583	missense	11340				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding	g.chr13:37582916G>T	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.659G>T	13.37:g.37582916G>T	ENSP00000374354:p.Gly220Val						p.G220V	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)	10	924	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	220					O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	c.659G>T	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181058	0.78677	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.52526	0.66	5.74	5.74	0.90152	Exoribonuclease, phosphorolytic domain 2 (2);	0.098049	0.64402	D	0.000001	T	0.75882	0.3910	M	0.91300	3.195	0.80722	D	1	P;D	0.71674	0.858;0.998	P;D	0.67382	0.732;0.951	T	0.79729	-0.1681	10	0.54805	T	0.06	-21.2381	19.9173	0.97066	0.0:0.0:1.0:0.0	.	192;220	Q5JXM0;Q96B26	.;EXOS8_HUMAN	V	220;192	ENSP00000374354:G220V	ENSP00000369137:G192V	G	+	2	0	EXOSC8	36480916	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.849000	0.75414	2.707000	0.92482	0.563000	0.77884	GGA		0.378	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		31	184	1	0	8.73648e-17	1	9.61379e-17	31	184				
EGR4	1961	broad.mit.edu	37	2	73519155	73519155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519155G>A	ENST00000545030.1	-	2	1274	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	EGR4_ENST00000436467.2_Silent_p.S297S	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	400	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCCGTCGCCGCTACTCCCTC	0.701																																						ENST00000545030.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1198-1200)agC>agT		early growth response 4							10.0	14.0	13.0					2																	73519155		2141	4241	6382	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519155G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1200C>T	2.37:g.73519155G>A						EGR4_ENST00000436467.2_Silent_p.S297S	p.S400S	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN			2	1274	-			296					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.1200C>T	CCDS1925.2																																																																																				0.701	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		12	106	0	0	0	1	0	12	106				
MUS81	80198	broad.mit.edu	37	11	65631319	65631319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65631319C>T	ENST00000308110.4	+	10	1355	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	336	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGAGCGCAAGCGACTGGATGA	0.607								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1006-1008)Cga>Tga	Homologous recombination	MUS81 structure-specific endonuclease subunit							101.0	101.0	101.0					11																	65631319		2201	4296	6497	SO:0001587	stop_gained	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65631319C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1006C>T	11.37:g.65631319C>T	ENSP00000307853:p.Arg336*					MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*	p.R336*	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	10	1355	+			336			ERCC4.		Q9H7D9	Nonsense_Mutation	SNP	ENST00000308110.4	37	c.1006C>T	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.318799|6.318799	0.97471|0.97471	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|.	.|.	.|.	5.95|5.95	4.99|4.99	0.66335|0.66335	.|.	.|0.098845	.|0.64402	.|D	.|0.000003	T|.	0.26882|.	0.0658|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22941|.	-1.0202|.	3|.	.|0.02654	.|T	.|1	-29.869|-29.869	11.4698|11.4698	0.50261|0.50261	0.2847:0.7153:0.0:0.0|0.2847:0.7153:0.0:0.0	.|.	.|.	.|.	.|.	V|X	261;217|261;336;336	.|.	.|ENSP00000307853:R336X	A|R	+|+	2|1	0|2	MUS81|MUS81	65387895|65387895	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.316000|0.316000	0.28119|0.28119	2.299000|2.299000	0.43611|0.43611	2.819000|2.819000	0.97034|0.97034	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.607	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		54	537	0	0	0	1	0	54	537				
TEX2	55852	broad.mit.edu	37	17	62290017	62290017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290017C>T	ENST00000583097.1	-	2	1733	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	TEX2_ENST00000584379.1_Missense_Mutation_p.A521T|TEX2_ENST00000258991.3_Missense_Mutation_p.A521T			Q8IWB9	TEX2_HUMAN	testis expressed 2	521					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TATTTATGAGCACTTGGTGGT	0.458																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1561-1563)Gct>Act		testis expressed 2							161.0	158.0	159.0					17																	62290017		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290017C>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1561G>A	17.37:g.62290017C>T	ENSP00000462665:p.Ala521Thr					TEX2_ENST00000584379.1_Missense_Mutation_p.A521T|TEX2_ENST00000583097.1_Missense_Mutation_p.A521T	p.A521T			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1645	-			521					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1561G>A		.	.	.	.	.	.	.	.	.	.	C	10.88	1.476242	0.26511	.	.	ENSG00000136478	ENST00000258991	T	0.42513	0.97	6.17	6.17	0.99709	.	0.176192	0.50627	D	0.000104	T	0.33933	0.0880	L	0.56769	1.78	0.32707	N	0.512139	B;B	0.19331	0.035;0.02	B;B	0.19666	0.026;0.007	T	0.38478	-0.9659	10	0.02654	T	1	-15.5616	9.9759	0.41783	0.0:0.7834:0.1404:0.0761	.	521;521	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	T	521	ENSP00000258991:A521T	ENSP00000258991:A521T	A	-	1	0	TEX2	59643749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.407000	0.34657	2.941000	0.99782	0.655000	0.94253	GCT		0.458	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		159	613	0	0	0	1	0	159	613				
LTBP2	4053	broad.mit.edu	37	14	74971732	74971732	+	Silent	SNP	G	G	A	rs535962199		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74971732G>A	ENST00000261978.4	-	29	4709	c.4323C>T	c.(4321-4323)ggC>ggT	p.G1441G	LTBP2_ENST00000556690.1_Silent_p.G1397G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1441	TB 3.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCAGCTAGCGCCCTGGGTGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.001					ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4321-4323)ggC>ggT		latent transforming growth factor beta binding protein 2							64.0	64.0	64.0					14																	74971732		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74971732G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4323C>T	14.37:g.74971732G>A						LTBP2_ENST00000556690.1_Silent_p.G1397G	p.G1441G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	29	4709	-			1441			TB 3.		Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.4323C>T	CCDS9831.1																																																																																				0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		14	436	0	0	0	1	0	14	436				
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000339901.4_Silent_p.D512D|SECISBP2_ENST00000534113.2_Silent_p.D517D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1753-1755)gaC>gaT		SECIS binding protein 2							135.0	114.0	121.0					9																	91964707		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91964707C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1755C>T	9.37:g.91964707C>T						SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	p.D585D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			13	1826	+			585					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.1755C>T	CCDS6683.1																																																																																				0.567	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		53	350	0	0	0	1	0	53	350				
RNF149	284996	broad.mit.edu	37	2	101905443	101905443	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101905443C>T	ENST00000295317.3	-	4	962	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	285					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ACTTGCATGGCAGAATTCTAA	0.279																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(853-855)ctG>ctA		ring finger protein 149							77.0	82.0	80.0					2																	101905443		2202	4298	6500	SO:0001819	synonymous_variant	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101905443C>T	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.855G>A	2.37:g.101905443C>T							p.L285L	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			4	962	-			285					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Silent	SNP	ENST00000295317.3	37	c.855G>A	CCDS2051.1																																																																																				0.279	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		12	189	0	0	0	1	0	12	189				
CHD3	1107	broad.mit.edu	37	17	7806616	7806616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7806616C>T	ENST00000330494.7	+	23	3672	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	CHD3_ENST00000380358.4_Silent_p.G1233G|CHD3_ENST00000358181.4_Silent_p.G1174G|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1174	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATCGGATTGGCCAGGCCAACA	0.582																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(3697-3699)ggC>ggT		chromodomain helicase DNA binding protein 3							61.0	63.0	63.0					17																	7806616		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7806616C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3522C>T	17.37:g.7806616C>T						CHD3_ENST00000358181.4_Silent_p.G1174G|CHD3_ENST00000330494.7_Silent_p.G1174G	p.G1233G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			23	3700	+		Prostate(122;0.202)	1174					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.3699C>T	CCDS32554.1																																																																																				0.582	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		89	311	0	0	0	1	0	89	311				
CCT5	22948	broad.mit.edu	37	5	10261800	10261800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10261800C>T	ENST00000280326.4	+	8	1542	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Silent_p.I281I|CCT5_ENST00000515390.1_Silent_p.I319I|CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000503026.1_Silent_p.I353I	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	374					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGCTGGTCATCGAGCAGTGTA	0.433																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(1120-1122)atC>atT		chaperonin containing TCP1, subunit 5 (epsilon)							123.0	130.0	128.0					5																	10261800		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10261800C>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1122C>T	5.37:g.10261800C>T						CCT5_ENST00000506600.1_Silent_p.I281I|CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000515390.1_Silent_p.I319I|CCT5_ENST00000503026.1_Silent_p.I353I	p.I374I	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			8	1542	+			374					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.1122C>T	CCDS3877.1																																																																																				0.433	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			154	740	0	0	0	1	0	154	740				
RBP3	5949	broad.mit.edu	37	10	48389870	48389870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48389870G>T	ENST00000224600.4	-	1	1121	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	336	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTCCTTCAGGACCTCCTGGA	0.642																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1006-1008)gtC>gtA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						39.0	38.0	38.0					10																	48389870		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389870G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1008C>A	10.37:g.48389870G>T							p.V336V	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1121	-			336			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1008C>A	CCDS7218.1																																																																																				0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		14	278	1	0	1.3612e-06	1	1.40558e-06	14	278				
KCNA1	3736	broad.mit.edu	37	12	5021052	5021052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021052G>A	ENST00000382545.3	+	2	1615	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	170					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.A170T(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGGGTCATCGCCATCGTCTC	0.622																																						ENST00000382545.3																			1	Substitution - Missense(1)	p.A170T(1)	large_intestine(1)	NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(508-510)Gcc>Acc		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						81.0	81.0	81.0					12																	5021052		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021052G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.508G>A	12.37:g.5021052G>A	ENSP00000371985:p.Ala170Thr					KCNA1_ENST00000543874.2_Intron	p.A170T	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1615	+			170					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.508G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760027	0.89932	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.70869	-0.52	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.86864	2.845	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.86857	0.2027	10	0.87932	D	0	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	170	Q09470	KCNA1_HUMAN	T	170	ENSP00000371985:A170T	ENSP00000228858:A170T	A	+	1	0	KCNA1	4891313	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.531000	0.98054	2.606000	0.88127	0.655000	0.94253	GCC		0.622	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		67	502	0	0	0	1	0	67	502				
MACF1	23499	broad.mit.edu	37	1	39826575	39826575	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826575C>A	ENST00000372915.3	+	47	12457	c.12370C>A	c.(12370-12372)Ctg>Atg	p.L4124M	MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000564288.1_Missense_Mutation_p.L4119M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4124					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTGGAGAGCCTGTTGCAGTC	0.507																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12355-12357)Ctg>Atg		microtubule-actin crosslinking factor 1							73.0	71.0	72.0					1																	39826575		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39826575C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12370C>A	1.37:g.39826575C>A	ENSP00000362006:p.Leu4124Met					MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000372915.3_Missense_Mutation_p.L4124M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M	p.L4119M			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		48	13132	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4124	E -> D (in Ref. 1; BAA83821).				B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12355C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.46|10.46	1.356181|1.356181	0.24598|0.24598	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91|.	5.62|5.62	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.46145|.	D|.	0.000302|.	T|T	0.40839|0.40839	0.1133|0.1133	N|N	0.26042|0.26042	0.785|0.785	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.76494|.	0.998;0.542;0.999;0.678|.	D;B;D;P|.	0.85130|.	0.99;0.396;0.997;0.674|.	T|T	0.09530|0.09530	-1.0670|-1.0670	10|5	0.27785|.	T|.	0.31|.	.|.	7.468|7.468	0.27332|0.27332	0.0:0.5743:0.0:0.4257|0.0:0.5743:0.0:0.4257	.|.	4124;2057;2057;2022|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2057;4124;2057;2057;2057;2559|1190	ENSP00000439537:L2057M;ENSP00000362006:L4124M;ENSP00000354573:L2057M;ENSP00000313438:L2057M;ENSP00000444364:L2057M;ENSP00000289893:L2559M|.	ENSP00000289893:L2559M|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39599162|39599162	0.015000|0.015000	0.18098|0.18098	0.987000|0.987000	0.45799|0.45799	0.246000|0.246000	0.25737|0.25737	0.167000|0.167000	0.16602|0.16602	0.603000|0.603000	0.29913|0.29913	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		25	203	1	0	7.88262e-20	1	8.81088e-20	25	203				
HSF1	3297	broad.mit.edu	37	8	145533580	145533580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145533580G>A	ENST00000528838.1	+	4	646	c.486G>A	c.(484-486)aaG>aaA	p.K162K	HSF1_ENST00000400780.4_Silent_p.K97K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	162	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGGCCATGAAGCAGTAGGTCC	0.647																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(484-486)aaG>aaA		heat shock transcription factor 1							61.0	63.0	62.0					8																	145533580		2203	4296	6499	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145533580G>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.486G>A	8.37:g.145533580G>A						HSF1_ENST00000400780.4_Silent_p.K97K	p.K162K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		4	646	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		162			Hydrophobic repeat HR-A/B.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.486G>A	CCDS6419.1																																																																																				0.647	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		33	173	0	0	0	1	0	33	173				
PALD1	27143	broad.mit.edu	37	10	72299451	72299451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72299451G>A	ENST00000263563.6	+	15	2109	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	614						cytosol (GO:0005829)											AGCCAGCACCGCAGGGCCTGT	0.662																																						ENST00000263563.6																			0											c.(1840-1842)cGc>cAc		phosphatase domain containing, paladin 1							76.0	72.0	73.0					10																	72299451		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72299451G>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1841G>A	10.37:g.72299451G>A	ENSP00000263563:p.Arg614His						p.R614H	NM_014431.2	NP_055246.2					15	2109	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1841G>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282991	0.23392	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29917	1.55	4.59	1.63	0.23807	.	0.640598	0.14970	N	0.287846	T	0.20495	0.0493	L	0.39397	1.21	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.27872	-1.0061	10	0.15499	T	0.54	-1.0189	7.2409	0.26096	0.4336:0.0:0.5664:0.0	.	614	Q9ULE6	PALD_HUMAN	H	614	ENSP00000263563:R614H	ENSP00000263563:R614H	R	+	2	0	KIAA1274	71969457	0.055000	0.20627	0.122000	0.21767	0.681000	0.39784	0.530000	0.23036	0.364000	0.24374	0.444000	0.29173	CGC		0.662	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		66	359	0	0	0	1	0	66	359				
TNFAIP2	7127	broad.mit.edu	37	14	103597432	103597432	+	Silent	SNP	C	C	T	rs374639192		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103597432C>T	ENST00000560869.1	+	7	1882	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	TNFAIP2_ENST00000451723.2_Silent_p.L84L|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000333007.1_Silent_p.L415L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	415					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGGCAAGCAGCTGACGAATTA	0.557																																						ENST00000560869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1243-1245)Ctg>Ttg		tumor necrosis factor, alpha-induced protein 2							105.0	92.0	96.0					14																	103597432		2203	4300	6503	SO:0001819	synonymous_variant	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103597432C>T		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1243C>T	14.37:g.103597432C>T						TNFAIP2_ENST00000333007.1_Silent_p.L415L|TNFAIP2_ENST00000451723.2_Silent_p.L84L	p.L415L			Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		7	1882	+		Melanoma(154;0.155)	415					Q86VI0	Silent	SNP	ENST00000560869.1	37	c.1243C>T	CCDS9979.1																																																																																				0.557	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		86	397	0	0	0	1	0	86	397				
TTC16	158248	broad.mit.edu	37	9	130485513	130485513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130485513C>T	ENST00000373289.3	+	7	853	c.773C>T	c.(772-774)gCg>gTg	p.A258V	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	258										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGCCAAGATGCGGGGATCCTG	0.647																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(772-774)gCg>gTg		tetratricopeptide repeat domain 16							62.0	58.0	59.0					9																	130485513		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130485513C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.773C>T	9.37:g.130485513C>T	ENSP00000362386:p.Ala258Val					TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V	p.A258V	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			7	853	+			258					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.773C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787800	0.49997	.	.	ENSG00000167094	ENST00000373289;ENST00000393748;ENST00000316259	T;T	0.64991	2.18;-0.13	4.99	4.99	0.66335	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	M	0.76328	2.33	0.20975	N	0.999814	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.70313	-0.4906	10	0.72032	D	0.01	-27.8116	13.6986	0.62595	0.0:1.0:0.0:0.0	.	245;210;258	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	V	258;82;203	ENSP00000362386:A258V;ENSP00000377349:A82V	ENSP00000319048:A203V	A	+	2	0	TTC16	129525334	0.957000	0.32711	0.133000	0.22050	0.022000	0.10575	2.502000	0.45398	2.619000	0.88677	0.456000	0.33151	GCG		0.647	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		44	233	0	0	0	1	0	44	233				
NUTM1	256646	broad.mit.edu	37	15	34649317	34649317	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34649317G>T	ENST00000333756.4	+	7	3179	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	NUTM1_ENST00000537011.1_Missense_Mutation_p.K1036N|NUTM1_ENST00000438749.3_Missense_Mutation_p.K1026N	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1008						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAAGAAAAAGGAAGCAGAGG	0.483																																						ENST00000537011.1																			0											c.(3106-3108)aaG>aaT		NUT midline carcinoma, family member 1							57.0	48.0	51.0					15																	34649317		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34649317G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3024G>T	15.37:g.34649317G>T	ENSP00000329448:p.Lys1008Asn					NUTM1_ENST00000333756.4_Missense_Mutation_p.K1008N|NUTM1_ENST00000438749.3_Missense_Mutation_p.K1026N	p.K1036N							8	3490	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.3108G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939916	0.18281	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08720	3.06;3.06;3.06	3.76	0.54	0.17163	.	.	.	.	.	T	0.04770	0.0129	N	0.22421	0.69	0.09310	N	1	B;B;B	0.32160	0.244;0.358;0.244	B;B;B	0.26770	0.033;0.073;0.033	T	0.39563	-0.9608	9	0.40728	T	0.16	.	4.9622	0.14072	0.4501:0.0:0.5499:0.0	.	1026;1036;1008	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	N	1036;1026;1008	ENSP00000444896:K1036N;ENSP00000407031:K1026N;ENSP00000329448:K1008N	ENSP00000329448:K1008N	K	+	3	2	C15orf55	32436609	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.231000	0.17872	0.291000	0.22468	-0.140000	0.14226	AAG		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		30	183	1	0	1.2476e-16	1	1.37204e-16	30	183				
KIAA1257	57501	broad.mit.edu	37	3	128706495	128706495	+	Missense_Mutation	SNP	C	C	T	rs376957597	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128706495C>T	ENST00000265068.5	-	4	798	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	211								p.G211C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGTGAAGCCGGCAGTCTTT	0.393																																						ENST00000265068.5																			1	Substitution - Missense(1)	p.G211C(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(631-633)Ggc>Agc		KIAA1257							137.0	134.0	135.0					3																	128706495		1848	4079	5927	SO:0001583	missense	57501							g.chr3:128706495C>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.631G>A	3.37:g.128706495C>T	ENSP00000265068:p.Gly211Ser					KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99S|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S	p.G211S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			4	798	-			211					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.631G>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110812	0.37242	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	1.18	0.20946	.	1.276940	0.05705	N	0.594801	T	0.18215	0.0437	N	0.19112	0.55	0.09310	N	1	B;B	0.34181	0.44;0.44	B;B	0.25405	0.06;0.06	T	0.15809	-1.0424	9	0.13108	T	0.6	-1.7784	4.2781	0.10818	0.1632:0.5601:0.0:0.2768	.	211;211	Q9ULG3;D6RH05	K1257_HUMAN;.	S	211;211;99	.	ENSP00000265068:G211S	G	-	1	0	KIAA1257	130189185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.417000	0.07088	0.258000	0.21686	-0.225000	0.12378	GGC		0.393	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		71	330	0	0	0	1	0	71	330				
C4orf50	389197	broad.mit.edu	37	4	5977679	5977679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5977679C>T	ENST00000324058.5	-	3	261	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	C4orf50_ENST00000531445.1_Missense_Mutation_p.E532K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	58										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGAAGTTCTTCAAGCTGAAAT	0.428																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1594-1596)Gaa>Aaa		chromosome 4 open reading frame 50							116.0	108.0	111.0					4																	5977679		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5977679C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.172G>A	4.37:g.5977679C>T	ENSP00000317287:p.Glu58Lys					C4orf50_ENST00000324058.5_Missense_Mutation_p.E58K	p.E532K			Q6ZRC1	CD050_HUMAN			3	1640	-			58						Missense_Mutation	SNP	ENST00000324058.5	37	c.1594G>A		.	.	.	.	.	.	.	.	.	.	C	9.182	1.023939	0.19433	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.25250	1.81;1.81	3.2	0.226	0.15353	.	1.293370	0.05830	N	0.617356	T	0.19604	0.0471	L	0.43152	1.355	0.09310	N	1	P	0.36535	0.557	B	0.30572	0.117	T	0.23726	-1.0180	10	0.54805	T	0.06	0.1767	5.5477	0.17073	0.0:0.4933:0.3869:0.1198	.	58	Q6ZRC1	CD050_HUMAN	K	532;58	ENSP00000437121:E532K;ENSP00000317287:E58K	ENSP00000317287:E58K	E	-	1	0	C4orf50	6028580	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.081000	0.14823	-0.111000	0.12001	0.455000	0.32223	GAA		0.428	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		23	214	0	0	0	1	0	23	214				
PTPRM	5797	broad.mit.edu	37	18	8244161	8244161	+	Silent	SNP	C	C	T	rs376160903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8244161C>T	ENST00000332175.8	+	15	3443	c.2406C>T	c.(2404-2406)tgC>tgT	p.C802C	PTPRM_ENST00000400053.4_Silent_p.C740C|PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000400060.4_Silent_p.C802C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	802					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCACAAACTGCGACGAGGCTT	0.483																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2404-2406)tgC>tgT		protein tyrosine phosphatase, receptor type, M		C	,	1,4405	2.1+/-5.4	0,1,2202	159.0	143.0	148.0		2406,2406	-0.1	1.0	18		148	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	802/1466,802/1453	8244161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8244161C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2406C>T	18.37:g.8244161C>T						PTPRM_ENST00000400053.4_Silent_p.C740C|PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000400060.4_Silent_p.C802C	p.C802C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			15	3443	+		Colorectal(10;0.234)	802					A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.2406C>T	CCDS11840.1																																																																																				0.483	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			78	373	0	0	0	1	0	78	373				
DZIP1	22873	broad.mit.edu	37	13	96293679	96293679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96293679C>T	ENST00000376829.2	-	5	1318	c.467G>A	c.(466-468)gGc>gAc	p.G156D	DZIP1_ENST00000361396.2_Missense_Mutation_p.G156D|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D|DZIP1_ENST00000347108.3_Missense_Mutation_p.G156D	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	156					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCTCTGCTCGCCGTCGCAGTG	0.607																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(466-468)gGc>gAc		DAZ interacting zinc finger protein 1							65.0	45.0	51.0					13																	96293679		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96293679C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.467G>A	13.37:g.96293679C>T	ENSP00000366025:p.Gly156Asp					DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Missense_Mutation_p.G156D|DZIP1_ENST00000376829.2_Missense_Mutation_p.G156D|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D	p.G156D			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		3	899	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		156					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.467G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	7.319	0.616484	0.14129	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.68	1.82	0.25136	.	0.964593	0.08613	N	0.919682	T	0.39279	0.1072	L	0.47716	1.5	0.09310	N	1	P;P;P	0.40360	0.583;0.666;0.714	B;B;P	0.45428	0.29;0.348;0.48	T	0.26538	-1.0100	10	0.33940	T	0.23	3.5486	4.333	0.11073	0.0:0.3601:0.3114:0.3285	.	156;156;156	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	D	156	ENSP00000257312:G156D;ENSP00000355018:G156D;ENSP00000355175:G156D;ENSP00000366025:G156D	ENSP00000257312:G156D	G	-	2	0	DZIP1	95091680	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.044000	0.13992	0.395000	0.25257	-0.136000	0.14681	GGC		0.607	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		35	190	0	0	0	1	0	35	190				
RDH11	51109	broad.mit.edu	37	14	68159251	68159251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68159251T>G	ENST00000381346.4	-	3	363	c.253A>C	c.(253-255)Atc>Ctc	p.I85L	RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L|RP11-1012A1.4_ENST00000553306.1_5'Flank|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	85					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GTGGTCTGGATCTCTTTGGCC	0.483																																						ENST00000381346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12						c.(253-255)Atc>Ctc		retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						213.0	202.0	206.0					14																	68159251		2203	4300	6503	SO:0001583	missense	51109				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr14:68159251T>G	AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.253A>C	14.37:g.68159251T>G	ENSP00000370750:p.Ile85Leu					RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L	p.I85L	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN		all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	3	363	-			85					A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	c.253A>C	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923609	0.73213	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130	D;D;D	0.84223	-1.82;-1.82;-1.82	5.41	5.41	0.78517	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	N	0.21617	0.685	0.58432	D	0.999999	P;P;P	0.43477	0.756;0.808;0.551	P;P;P	0.50754	0.555;0.517;0.649	D	0.84727	0.0743	10	0.49607	T	0.09	.	15.4448	0.75220	0.0:0.0:0.0:1.0	.	85;72;85	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	L	85;72;85	ENSP00000370750:I85L;ENSP00000452079:I72L;ENSP00000416395:I85L	ENSP00000370750:I85L	I	-	1	0	RDH11	67229004	1.000000	0.71417	0.995000	0.50966	0.226000	0.24999	6.738000	0.74822	2.048000	0.60808	0.528000	0.53228	ATC		0.483	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			158	807	0	0	0	1	0	158	807				
SPATA17	128153	broad.mit.edu	37	1	217824443	217824443	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:217824443T>A	ENST00000366933.4	+	3	218	c.163T>A	c.(163-165)Tta>Ata	p.L55I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	55	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCCTAGGCATTTAAACAGGAT	0.284																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(163-165)Tta>Ata		spermatogenesis associated 17							70.0	79.0	76.0					1																	217824443		2202	4288	6490	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217824443T>A	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.163T>A	1.37:g.217824443T>A	ENSP00000355900:p.Leu55Ile						p.L55I	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	3	218	+			55			IQ 1.|IQ 2.		A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.163T>A	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401820	0.62288	.	.	ENSG00000162814	ENST00000366933	T	0.73575	-0.76	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	T	0.79257	0.4415	L	0.48877	1.53	0.33333	D	0.568893	D	0.89917	1.0	D	0.91635	0.999	T	0.82788	-0.0284	10	0.45353	T	0.12	-6.4751	7.6782	0.28499	0.0:0.097:0.0:0.903	.	55	Q96L03	SPT17_HUMAN	I	55	ENSP00000355900:L55I	ENSP00000355900:L55I	L	+	1	2	SPATA17	215891066	0.993000	0.37304	0.561000	0.28357	0.035000	0.12851	1.911000	0.39937	1.964000	0.57103	0.528000	0.53228	TTA		0.284	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		44	257	0	0	0	1	0	44	257				
ENG	2022	broad.mit.edu	37	9	130581937	130581937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130581937C>T	ENST00000373203.4	-	10	1675	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_Intron|ENG_ENST00000344849.3_Silent_p.A425A|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	425	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TATTGACCACCGCCTGCGGGG	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(1273-1275)gcG>gcA		endoglin							36.0	36.0	36.0					9																	130581937		2201	4300	6501	SO:0001819	synonymous_variant	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130581937C>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1275G>A	9.37:g.130581937C>T						RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_Intron|ENG_ENST00000373203.4_Silent_p.A425A	p.A425A			P17813	EGLN_HUMAN			10	1555	-			425			Ser/Thr-rich.		Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.1275G>A	CCDS48029.1																																																																																				0.607	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			24	60	0	0	0	1	0	24	60				
KMT2C	58508	broad.mit.edu	37	7	151846148	151846148	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151846148A>C	ENST00000262189.6	-	52	13082	c.12864T>G	c.(12862-12864)gaT>gaG	p.D4288E	KMT2C_ENST00000355193.2_Missense_Mutation_p.D4345E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4288					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GACAGTGCACATCCAAAGTGG	0.527																																						ENST00000355193.2																			0											c.(13033-13035)gaT>gaG		lysine (K)-specific methyltransferase 2C							67.0	61.0	63.0					7																	151846148		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151846148A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12864T>G	7.37:g.151846148A>C	ENSP00000262189:p.Asp4288Glu					KMT2C_ENST00000262189.6_Missense_Mutation_p.D4288E	p.D4345E							53	13253	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13035T>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.46|16.46	3.130325|3.130325	0.56721|0.56721	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.89343	.|-1.94;-1.88;-2.5	5.52|5.52	-3.83|-3.83	0.04269|0.04269	.|.	.|0.000000	.|0.45867	.|U	.|0.000334	D|D	0.91102|0.91102	0.7199|0.7199	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|D;D;D	.|0.83275	.|0.952;0.996;0.996	D|D	0.87909|0.87909	0.2696|0.2696	5|10	.|0.30078	.|T	.|0.28	.|.	13.848|13.848	0.63479|0.63479	0.6:0.0:0.4:0.0|0.6:0.0:0.4:0.0	.|.	.|4288;3406;4345	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	G|E	1849|4288;4345;905	.|ENSP00000262189:D4288E;ENSP00000347325:D4345E;ENSP00000410411:D905E	.|ENSP00000262189:D4288E	C|D	-|-	1|3	0|2	MLL3|MLL3	151477081|151477081	0.395000|0.395000	0.25254|0.25254	0.711000|0.711000	0.30485|0.30485	0.993000|0.993000	0.82548|0.82548	-0.105000|-0.105000	0.10907|0.10907	-0.731000|-0.731000	0.04862|0.04862	0.528000|0.528000	0.53228|0.53228	TGT|GAT		0.527	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			16	186	0	0	0	1	0	16	186				
KRTAP13-2	337959	broad.mit.edu	37	21	31744473	31744473	+	Missense_Mutation	SNP	C	C	T	rs146985381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31744473C>T	ENST00000399889.2	-	1	84	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	20						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TGCTGGGTAGCGCAGGTAGTC	0.542													c|||	23	0.00459265	0.0008	0.0	5008	,	,		19202	0.006		0.0	False		,,,				2504	0.0164					ENST00000399889.2																			0				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(58-60)cGc>cAc		keratin associated protein 13-2							147.0	130.0	136.0					21																	31744473		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744473C>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.59G>A	21.37:g.31744473C>T	ENSP00000382777:p.Arg20His						p.R20H	NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN			1	84	-			20						Missense_Mutation	SNP	ENST00000399889.2	37	c.59G>A	CCDS13589.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	c	0.083	-1.180788	0.01633	.	.	ENSG00000182816	ENST00000399889	T	0.02890	4.12	4.42	-5.38	0.02673	.	1.384710	0.05163	N	0.498224	T	0.02047	0.0064	L	0.48260	1.515	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.44574	-0.9319	10	0.15499	T	0.54	.	8.6683	0.34134	0.0:0.3444:0.1055:0.5501	.	20	Q52LG2	KR132_HUMAN	H	20	ENSP00000382777:R20H	ENSP00000382777:R20H	R	-	2	0	KRTAP13-2	30666344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.123000	0.00594	-1.931000	0.01055	-0.722000	0.03604	CGC		0.542	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			62	632	0	0	0	1	0	62	632				
HADHB	3032	broad.mit.edu	37	2	26501669	26501669	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501669G>T	ENST00000317799.5	+	8	734	c.630G>T	c.(628-630)gaG>gaT	p.E210D	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Splice_Site_p.E188D|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Splice_Site_p.E195D	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	210					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCACCTGAGGTAAGGCTTG	0.418																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.e8+1		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							111.0	111.0	111.0					2																	26501669		2203	4300	6503	SO:0001630	splice_region_variant	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26501669G>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.630+1G>T	2.37:g.26501669G>T						HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Splice_Site_p.E195_splice|HADHB_ENST00000545822.1_Splice_Site_p.E188_splice|HADHB_ENST00000494615.1_3'UTR	p.E210_splice	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			8	734	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		210					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Splice_Site	SNP	ENST00000317799.5	37	c.630_splice	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845401	0.71603	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.93426	-3.21;-3.22;-3.2	5.06	5.06	0.68205	Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	L	0.52573	1.65	0.80722	D	1	P;B;B	0.35944	0.529;0.337;0.337	B;B;B	0.37943	0.248;0.261;0.261	D	0.89801	0.3975	9	.	.	.	-22.557	17.5149	0.87770	0.0:0.0:1.0:0.0	.	195;188;210	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	D	210;195;188	ENSP00000325136:E210D;ENSP00000444295:E195D;ENSP00000442665:E188D	.	E	+	3	2	HADHB	26355173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.495000	0.97964	2.788000	0.95919	0.650000	0.86243	GAG		0.418	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183	Missense_Mutation	99	485	1	0	1.76403e-45	1	2.16332e-45	99	485				
MGA	23269	broad.mit.edu	37	15	42041402	42041402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42041402C>A	ENST00000570161.1	+	16	5597	c.5597C>A	c.(5596-5598)cCt>cAt	p.P1866H	MGA_ENST00000566586.1_Missense_Mutation_p.P1657H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000219905.7_Missense_Mutation_p.P1866H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCATGAATCCTGTAATTCAA	0.488																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5596-5598)cCt>cAt		MGA, MAX dimerization protein							123.0	117.0	119.0					15																	42041402		1973	4160	6133	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041402C>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5597C>A	15.37:g.42041402C>A	ENSP00000457035:p.Pro1866His					MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000570161.1_Missense_Mutation_p.P1866H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000566586.1_Missense_Mutation_p.P1657H	p.P1866H	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	5778	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1827					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.5597C>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344375	0.61073	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.22945	1.93;1.93;1.93	5.72	5.72	0.89469	.	0.455762	0.18443	N	0.141068	T	0.38931	0.1059	N	0.19112	0.55	0.30792	N	0.740823	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;P	0.70935	0.936;0.971;0.936;0.894	T	0.36866	-0.9730	10	0.87932	D	0	.	18.867	0.92296	0.0:1.0:0.0:0.0	.	482;1657;1866;1827	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	1866;1827;1657	ENSP00000219905:P1866H;ENSP00000374586:P1827H;ENSP00000442467:P1657H	ENSP00000219905:P1866H	P	+	2	0	MGA	39828694	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	4.034000	0.57289	2.704000	0.92352	0.563000	0.77884	CCT		0.488	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		18	421	1	0	7.07596e-05	1	7.20791e-05	18	421				
MS4A14	84689	broad.mit.edu	37	11	60184368	60184368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60184368G>A	ENST00000300187.6	+	5	2204	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N|MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	643	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GTTATGCCAAGATTCAGAATC	0.473																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1927-1929)Gat>Aat		membrane-spanning 4-domains, subfamily A, member 14							86.0	87.0	86.0					11																	60184368		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60184368G>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1927G>A	11.37:g.60184368G>A	ENSP00000300187:p.Asp643Asn					MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N|MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N	p.D643N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	2204	+			643			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1927G>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518792	0.27211	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.29655	1.56;2.82;1.57;3.18	3.84	0.661	0.17874	.	11.904300	0.00166	N	0.000000	T	0.22282	0.0537	L	0.27053	0.805	0.09310	N	0.999996	P;P	0.40107	0.703;0.578	B;B	0.36959	0.237;0.12	T	0.13872	-1.0493	10	0.46703	T	0.11	-3.5619	4.6492	0.12587	0.2117:0.0:0.6156:0.1727	.	626;643	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	N	531;643;626;676	ENSP00000437222:D531N;ENSP00000300187:D643N;ENSP00000378453:D626N;ENSP00000433761:D676N	ENSP00000300187:D643N	D	+	1	0	MS4A14	59940944	0.003000	0.15002	0.001000	0.08648	0.012000	0.07955	0.371000	0.20450	0.025000	0.15241	0.650000	0.86243	GAT		0.473	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			70	293	0	0	0	1	0	70	293				
ARHGAP39	80728	broad.mit.edu	37	8	145770921	145770921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145770921C>T	ENST00000276826.5	-	5	2434	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTGAAGAGCTCGCAGGCCTCC	0.632																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2233-2235)Gag>Aag		Rho GTPase activating protein 39							72.0	65.0	68.0					8																	145770921		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145770921C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2233G>A	8.37:g.145770921C>T	ENSP00000276826:p.Glu745Lys					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K	p.E745K			Q9C0H5	RHG39_HUMAN			5	2434	-			745			MyTH4.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2233G>A		.	.	.	.	.	.	.	.	.	.	C	27.8	4.860027	0.91433	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.69685	-0.42;-0.16;-0.42	4.92	4.92	0.64577	MyTH4 domain (1);	0.056351	0.64402	D	0.000002	T	0.74824	0.3767	L	0.49778	1.585	0.80722	D	1	D;D	0.76494	0.981;0.999	P;P	0.60173	0.532;0.87	T	0.76945	-0.2771	10	0.59425	D	0.04	-9.4975	15.9706	0.80013	0.0:1.0:0.0:0.0	.	745;745	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	745	ENSP00000276826:E745K;ENSP00000366522:E745K;ENSP00000445075:E745K	ENSP00000276826:E745K	E	-	1	0	ARHGAP39	145741729	1.000000	0.71417	0.978000	0.43139	0.967000	0.64934	7.663000	0.83820	2.427000	0.82271	0.650000	0.86243	GAG		0.632	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			26	231	0	0	0	1	0	26	231				
ZNF430	80264	broad.mit.edu	37	19	21205649	21205649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21205649G>A	ENST00000261560.5	+	2	239	c.58G>A	c.(58-60)Gct>Act	p.A20T	ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T|ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	20					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGCCCTGGGGCTGACAGGAA	0.443																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(58-60)Gct>Act		zinc finger protein 430							97.0	99.0	98.0					19																	21205649		2203	4300	6503	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21205649G>A	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.58G>A	19.37:g.21205649G>A	ENSP00000261560:p.Ala20Thr					ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T|ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T	p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			2	239	+			20					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.58G>A	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320681	0.23994	.	.	ENSG00000118620	ENST00000261560	T	0.04862	3.54	0.82	-0.347	0.12617	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B	0.34103	0.32;0.437	B;B	0.27500	0.02;0.08	T	0.43410	-0.9393	9	0.11182	T	0.66	.	2.9792	0.05948	0.3723:0.0:0.6277:0.0	.	20;20	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	T	20	ENSP00000261560:A20T	ENSP00000261560:A20T	A	+	1	0	ZNF430	20997489	0.003000	0.15002	0.002000	0.10522	0.543000	0.35085	-1.040000	0.03546	-0.098000	0.12285	0.313000	0.20887	GCT		0.443	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		21	472	0	0	0	1	0	21	472				
ZMYND11	10771	broad.mit.edu	37	10	295039	295039	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:295039G>T	ENST00000397962.3	+	14	2114				ZMYND11_ENST00000509513.2_Missense_Mutation_p.S565I|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S566I|ZMYND11_ENST00000381591.1_Intron|ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381602.4_Missense_Mutation_p.S526I|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000381604.4_Intron|ZMYND11_ENST00000309776.4_Intron|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381584.1_Intron			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTAAATACCAGTCTTTTTTAG	0.393																																						ENST00000381602.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(1576-1578)aGt>aTt		zinc finger, MYND-type containing 11							75.0	73.0	74.0					10																	295039		2203	4300	6503	SO:0001627	intron_variant	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:295039G>T	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1686+11G>T	10.37:g.295039G>T						ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000381591.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000397962.3_Intron|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S566I|ZMYND11_ENST00000381604.4_Intron|ZMYND11_ENST00000509513.2_Missense_Mutation_p.S565I|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000309776.4_Intron|ZMYND11_ENST00000381584.1_Intron|ZMYND11_ENST00000602682.1_Intron	p.S526I	NM_212479.3	NP_997644.2	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	14	2125	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	0			Interaction with human adenovirus E1A.		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1577G>T	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062397	0.36373	.	.	ENSG00000015171	ENST00000381602;ENST00000509513	.	.	.	4.79	-9.58	0.00559	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36286	-0.9754	7	0.87932	D	0	.	2.7636	0.05314	0.3917:0.0818:0.1035:0.4231	.	566;512	Q2LD45;Q2LD46	.;.	I	526;566	.	ENSP00000371015:S526I	S	+	2	0	ZMYND11	285039	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.716000	0.01878	-3.340000	0.00183	-0.282000	0.10007	AGT		0.393	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		47	241	1	0	1.00776e-21	1	1.13667e-21	47	241				
NNT	23530	broad.mit.edu	37	5	43651986	43651986	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43651986G>T	ENST00000264663.5	+	13	2084	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	NNT_ENST00000344920.4_Splice_Site_p.Q621H|NNT_ENST00000512996.2_Splice_Site_p.Q490H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	621					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ACATTGAACAGGTAAGATGCT	0.383																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e13+1		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						129.0	133.0	131.0					5																	43651986		2203	4300	6503	SO:0001630	splice_region_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43651986G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1863+1G>T	5.37:g.43651986G>T						NNT_ENST00000344920.4_Splice_Site_p.Q621_splice|NNT_ENST00000512996.2_Splice_Site_p.Q490_splice	p.Q621_splice	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			13	2084	+	Lung NSC(6;2.58e-06)		621					Q16796|Q2TB60|Q8N3V4	Splice_Site	SNP	ENST00000264663.5	37	c.1863_splice	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716944	0.68844	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91843	-2.92;-2.92;-2.92	5.64	2.03	0.26663	.	0.049448	0.85682	D	0.000000	D	0.94272	0.8160	M	0.82630	2.6	0.80722	D	1	P	0.37441	0.595	P	0.53360	0.724	D	0.92446	0.5966	10	0.59425	D	0.04	-7.8661	7.8211	0.29288	0.4948:0.0:0.5052:0.0	.	621	Q13423	NNTM_HUMAN	H	136;621;621;490	ENSP00000264663:Q621H;ENSP00000343873:Q621H;ENSP00000426343:Q490H	ENSP00000264663:Q621H	Q	+	3	2	NNT	43687743	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.093000	0.50217	0.436000	0.26393	-0.302000	0.09304	CAG		0.383	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	Missense_Mutation	124	613	1	0	4.37601e-64	1	5.5278e-64	124	613				
KIRREL2	84063	broad.mit.edu	37	19	36351456	36351456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36351456G>A	ENST00000360202.5	+	7	1013	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	272	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGGCCCGCGGGCCAAGG	0.652																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(814-816)cGc>cAc		kin of IRRE like 2 (Drosophila)							46.0	52.0	50.0					19																	36351456		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351456G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.815G>A	19.37:g.36351456G>A	ENSP00000353331:p.Arg272His					KIRREL2_ENST00000586102.2_Missense_Mutation_p.R252H|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H	p.R272H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1013	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		272			Ig-like C2-type 3.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.815G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	17.73	3.462092	0.63513	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.68903	-0.36;-0.14;-0.34	3.99	3.99	0.46301	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180262	0.27084	N	0.021010	T	0.59985	0.2234	N	0.17872	0.535	0.31437	N	0.672468	D;D;D;D;D	0.67145	0.983;0.979;0.992;0.996;0.996	P;P;P;P;P	0.59643	0.685;0.557;0.861;0.855;0.855	T	0.55062	-0.8199	10	0.06494	T	0.89	-10.5667	11.8642	0.52484	0.0:0.0:1.0:0.0	.	272;252;272;222;272	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	H	272;222;272;252	ENSP00000262625:R272H;ENSP00000345067:R222H;ENSP00000353331:R272H	ENSP00000262625:R272H	R	+	2	0	KIRREL2	41043296	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	2.235000	0.43044	2.257000	0.74773	0.444000	0.29173	CGC		0.652	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		115	431	0	0	0	1	0	115	431				
KRT76	51350	broad.mit.edu	37	12	53165978	53165978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53165978C>T	ENST00000332411.2	-	5	1090	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	346	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTCCAGGCAGCGGTTGTTGTC	0.567																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1036-1038)cGc>cAc		keratin 76							85.0	71.0	75.0					12																	53165978		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53165978C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1037G>A	12.37:g.53165978C>T	ENSP00000330101:p.Arg346His						p.R346H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			5	1090	-			346			Linker 12.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1037G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454347	0.84209	.	.	ENSG00000185069	ENST00000332411	D	0.87729	-2.29	4.42	3.52	0.40303	Filament (1);	0.000000	0.45126	D	0.000382	D	0.91948	0.7450	M	0.75615	2.305	0.52501	D	0.999955	D	0.76494	0.999	D	0.67103	0.949	D	0.92559	0.6056	10	0.87932	D	0	.	12.8514	0.57860	0.0:0.9184:0.0:0.0816	.	346	Q01546	K22O_HUMAN	H	346	ENSP00000330101:R346H	ENSP00000330101:R346H	R	-	2	0	KRT76	51452245	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	4.984000	0.63838	1.169000	0.42739	0.462000	0.41574	CGC		0.567	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		6	229	0	0	0	1	0	6	229				
RGR	5995	broad.mit.edu	37	10	86012754	86012754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:86012754C>A	ENST00000359452.4	+	4	550	c.512C>A	c.(511-513)tCc>tAc	p.S171Y	RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	167					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGGACTACTCCAAGGGGGAC	0.577																																					NSCLC(15;204 545 5889 6385 32445)	ENST00000359452.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(511-513)tCc>tAc		retinal G protein coupled receptor							59.0	46.0	50.0					10																	86012754		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86012754C>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.512C>A	10.37:g.86012754C>A	ENSP00000352427:p.Ser171Tyr					RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	p.S171Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN			4	550	+			167					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.512C>A	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452780	0.63290	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.37235	1.21;1.21	4.92	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.175561	0.64402	D	0.000013	T	0.52208	0.1720	L	0.56769	1.78	0.49213	D	0.999762	D;D;B	0.89917	0.96;1.0;0.051	P;D;B	0.70935	0.6;0.971;0.102	T	0.44019	-0.9355	10	0.36615	T	0.2	.	13.1354	0.59405	0.0:0.7335:0.2664:0.0	.	167;171;167	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	Y	171;167	ENSP00000352427:S171Y;ENSP00000350823:S167Y	ENSP00000350823:S167Y	S	+	2	0	RGR	86002734	0.997000	0.39634	0.990000	0.47175	0.971000	0.66376	1.366000	0.34193	2.667000	0.90743	0.655000	0.94253	TCC		0.577	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		43	174	1	0	3.4345e-17	1	3.7875e-17	43	174				
FUT4	2526	broad.mit.edu	37	11	94278557	94278557	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94278557G>T	ENST00000358752.2	+	1	1541	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	420					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAGCACCTGGATTATATCAC	0.667																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1258-1260)Gat>Tat		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							36.0	34.0	35.0					11																	94278557		2201	4297	6498	SO:0001583	missense	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278557G>T		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1258G>T	11.37:g.94278557G>T	ENSP00000351602:p.Asp420Tyr					RP11-867G2.8_ENST00000536540.1_RNA	p.D420Y	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	1541	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	420					B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	c.1258G>T	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650391	0.87958	.	.	ENSG00000196371	ENST00000358752	T	0.69926	-0.44	4.74	4.74	0.60224	.	0.000000	0.85682	U	0.000000	D	0.85708	0.5759	M	0.94101	3.495	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.89439	0.3722	10	0.87932	D	0	.	14.5742	0.68235	0.0:0.0:0.8535:0.1465	.	420	P22083	FUT4_HUMAN	Y	420	ENSP00000351602:D420Y	ENSP00000351602:D420Y	D	+	1	0	FUT4	93918205	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.770000	0.85390	2.339000	0.79563	0.561000	0.74099	GAT		0.667	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		51	193	1	0	6.03219e-31	1	7.08931e-31	51	193				
RORC	6097	broad.mit.edu	37	1	151785743	151785743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151785743G>A	ENST00000318247.6	-	8	1253	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Silent_p.Y361Y|RORC_ENST00000392697.3_Silent_p.Y436Y	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	382	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCATGCCACCGTATTTGCCTT	0.562																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1081-1083)taC>taT		RAR-related orphan receptor C							234.0	235.0	234.0					1																	151785743		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151785743G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1146C>T	1.37:g.151785743G>A						RORC_ENST00000392697.3_Silent_p.Y436Y|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000318247.6_Silent_p.Y382Y	p.Y361Y	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1237	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		382			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.1083C>T	CCDS1004.1																																																																																				0.562	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			67	1726	0	0	0	1	0	67	1726				
C3P1	388503	broad.mit.edu	37	19	10166279	10166279	+	RNA	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10166279T>A	ENST00000495140.1	+	0	1637							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GCTCACAAGCTATGTGTTCCG	0.552																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															186.0	165.0	172.0					19																	10166279		2069	4207	6276			0							g.chr19:10166279T>A	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10166279T>A														0	1637	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.552	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		70	729	0	0	0	1	0	70	729				
SLC44A4	80736	broad.mit.edu	37	6	31832662	31832662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31832662G>A	ENST00000229729.6	-	19	1877	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	SLC44A4_ENST00000544672.1_Silent_p.S543S|SLC44A4_ENST00000375562.4_Silent_p.S577S|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	619					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGATGCGACCGGAGAAAAAAA	0.572																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1627-1629)tcC>tcT		solute carrier family 44, member 4	Choline(DB00122)						33.0	41.0	38.0					6																	31832662		2203	4300	6503	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31832662G>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1857C>T	6.37:g.31832662G>A						SLC44A4_ENST00000375562.4_Silent_p.S577S|SLC44A4_ENST00000229729.6_Silent_p.S619S	p.S543S	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			19	1925	-			619					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.1629C>T	CCDS4724.2																																																																																				0.572	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			35	152	0	0	0	1	0	35	152				
BTNL2	56244	broad.mit.edu	37	6	32370729	32370729	+	Missense_Mutation	SNP	G	G	A	rs185078933	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32370729G>A	ENST00000374993.1	-	3	691	c.692C>T	c.(691-693)tCg>tTg	p.S231L	BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.S231L|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	231	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCTGATGACCGACCCCTTCTC	0.587													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17261	0.001		0.0	False		,,,				2504	0.0					ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(691-693)tCg>tTg		butyrophilin-like 2 (MHC class II associated)							61.0	51.0	55.0					6																	32370729		1510	2709	4219	SO:0001583	missense	56244					integral to membrane		g.chr6:32370729G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.692C>T	6.37:g.32370729G>A	ENSP00000364132:p.Ser231Leu					BTNL2_ENST00000374993.1_Missense_Mutation_p.S231L|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000540315.1_Intron	p.S231L			Q9UIR0	BTNL2_HUMAN			3	696	-			231			Ig-like V-type 2.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.692C>T		6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	14.29	2.490779	0.44249	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.03982	3.74	4.71	3.84	0.44239	Immunoglobulin-like (1);	1.024130	0.07817	N	0.959082	T	0.02304	0.0071	M	0.66439	2.03	0.22737	N	0.998798	B	0.20052	0.041	B	0.08055	0.003	T	0.45323	-0.9269	10	0.20519	T	0.43	.	9.1993	0.37249	0.0993:0.0:0.9007:0.0	.	231	Q9UIR0	BTNL2_HUMAN	L	231	ENSP00000364132:S231L	ENSP00000364132:S231L	S	-	2	0	BTNL2	32478707	0.024000	0.19004	0.002000	0.10522	0.001000	0.01503	2.342000	0.43992	1.378000	0.46305	0.626000	0.83405	TCG		0.587	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		34	124	0	0	0	1	0	34	124				
ABCC8	6833	broad.mit.edu	37	11	17414677	17414677	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17414677T>G	ENST00000389817.3	-	39	4677		c.e39-2		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACTCGATGCTGGGCAGGGCA	0.642																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67	GRCh37	CS025926|CS061237	ABCC8	S		c.e39-2		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						56.0	46.0	50.0					11																	17414677		2200	4293	6493	SO:0001630	splice_region_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17414677T>G	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4609-2A>C	11.37:g.17414677T>G						ABCC8_ENST00000389817.3_Splice_Site		NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	39	4737	-								A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	SNP	ENST00000389817.3	37		CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336514	0.60963	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.069	0.72021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC8	17371253	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.683000	0.84093	1.968000	0.57251	0.459000	0.35465	.		0.642	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	Intron	50	241	0	0	0	1	0	50	241				
BCL9L	283149	broad.mit.edu	37	11	118772712	118772712	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118772712C>T	ENST00000334801.3	-	6	2704	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	580					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGCCCCCGCAGCTGCGCAC	0.647																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1738-1740)ctG>ctA		B-cell CLL/lymphoma 9-like							41.0	40.0	40.0					11																	118772712		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772712C>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1740G>A	11.37:g.118772712C>T						BCL9L_ENST00000526143.1_5'UTR	p.L580L	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2704	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	580					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.1740G>A	CCDS8403.1																																																																																				0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		24	135	0	0	0	1	0	24	135				
PCK2	5106	broad.mit.edu	37	14	24568398	24568398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24568398G>A	ENST00000216780.4	+	5	1073	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|PCK2_ENST00000559250.1_Missense_Mutation_p.A281T|PCK2_ENST00000545054.2_Missense_Mutation_p.A135T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	269					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTACGCATCGCCTCTCGGCT	0.672																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(403-405)Gcc>Acc		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							45.0	41.0	42.0					14																	24568398		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24568398G>A	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.805G>A	14.37:g.24568398G>A	ENSP00000216780:p.Ala269Thr					PCK2_ENST00000559250.1_Missense_Mutation_p.A281T|PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.A269T	p.A135T			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	5	1321	+			269					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.403G>A	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	36	5.854427	0.97030	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.21191	2.02;2.02;2.02	5.79	5.79	0.91817	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;0.996	T	0.32798	-0.9893	10	0.87932	D	0	-19.0125	17.534	0.87822	0.0:0.0:1.0:0.0	.	135;269;269;269	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	T	269;269;135	ENSP00000216780:A269T;ENSP00000380171:A269T;ENSP00000441826:A135T	ENSP00000216780:A269T	A	+	1	0	PCK2	23638238	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.750000	0.94351	0.563000	0.77884	GCC		0.672	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		27	269	0	0	0	1	0	27	269				
LYST	1130	broad.mit.edu	37	1	235955384	235955384	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235955384A>G	ENST00000389794.3	-	12	4332	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	LYST_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1386					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCATAGTAGTATCACTTTCAA	0.323																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4156-4158)gaT>gaC		lysosomal trafficking regulator							62.0	66.0	65.0					1																	235955384		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235955384A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4158T>C	1.37:g.235955384A>G						LYST_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron	p.D1386D			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		12	4332	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1386					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.4158T>C	CCDS31062.1																																																																																				0.323	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			71	335	0	0	0	1	0	71	335				
JUP	3728	broad.mit.edu	37	17	39919402	39919402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39919402G>A	ENST00000393931.3	-	8	1448	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R444C|JUP_ENST00000393930.1_Missense_Mutation_p.R444C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	444					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACCAGCACGCAGGATGGCA	0.612																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1330-1332)Cgt>Tgt		junction plakoglobin							160.0	120.0	134.0					17																	39919402		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919402G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1330C>T	17.37:g.39919402G>A	ENSP00000377508:p.Arg444Cys					JUP_ENST00000393930.1_Missense_Mutation_p.R444C|JUP_ENST00000310706.5_Missense_Mutation_p.R444C|JUP_ENST00000540235.1_Intron	p.R444C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1448	-		Breast(137;0.000162)	444					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1330C>T	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728521	0.69074	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.01406	4.93;4.93;4.93	5.08	1.81	0.25067	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.29150	-1.0021	10	0.87932	D	0	-8.3127	7.3789	0.26843	0.1507:0.0:0.7112:0.1381	.	444	P14923	PLAK_HUMAN	C	444	ENSP00000377507:R444C;ENSP00000311113:R444C;ENSP00000377508:R444C	ENSP00000311113:R444C	R	-	1	0	JUP	37172928	1.000000	0.71417	0.976000	0.42696	0.847000	0.48162	2.941000	0.49011	0.668000	0.31126	0.491000	0.48974	CGT		0.612	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			58	262	0	0	0	1	0	58	262				
CSMD1	64478	broad.mit.edu	37	8	3216710	3216710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3216710G>A	ENST00000520002.1	-	22	3826	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1091	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACACGGCGGCCCCCACCC	0.552																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(3271-3273)Cgc>Tgc		CUB and Sushi multiple domains 1							69.0	74.0	72.0					8																	3216710		2203	4300	6503	SO:0001583	missense	64478					integral to membrane		g.chr8:3216710G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3271C>T	8.37:g.3216710G>A	ENSP00000430733:p.Arg1091Cys					CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C	p.R1091C			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3826	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1091			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3271C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.7|22.7	4.320993|4.320993	0.81580|0.81580	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.84683|0.84683	0.5526|0.5526	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.998;1.0;1.0	D|D	0.88420|0.88420	0.3028|0.3028	5|10	.|0.87932	.|D	.|0	.|.	19.067|19.067	0.93116|0.93116	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1091;1091;1091	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	L|C	570|1091;1091;953;1090;1090;1090	.|ENSP00000383047:R1091C;ENSP00000430733:R1091C;ENSP00000441462:R1090C;ENSP00000446243:R1090C;ENSP00000441675:R1090C	.|ENSP00000320445:R953C	P|R	-|-	2|1	0|0	CSMD1|CSMD1	3204117|3204117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.104000|6.104000	0.71498|0.71498	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	CCG|CGC		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		84	414	0	0	0	1	0	84	414				
OR14J1	442191	broad.mit.edu	37	6	29275057	29275057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29275057G>A	ENST00000377160.2	+	1	655	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGATTGCACTGGCTGCATTCA	0.438																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(589-591)ctG>ctA		olfactory receptor, family 14, subfamily J, member 1							159.0	163.0	162.0					6																	29275057		1511	2709	4220	SO:0001819	synonymous_variant	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275057G>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.591G>A	6.37:g.29275057G>A							p.L197L	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	655	+			197					A2BEC2|B0V078|Q5ST27	Silent	SNP	ENST00000377160.2	37	c.591G>A	CCDS34362.1																																																																																				0.438	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			120	572	0	0	0	1	0	120	572				
TSN	7247	broad.mit.edu	37	2	122522723	122522723	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122522723T>C	ENST00000389682.3	+	6	714	c.467T>C	c.(466-468)gTc>gCc	p.V156A	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Silent_p.C129C|TSN_ENST00000409193.1_Missense_Mutation_p.V151A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	156					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AGGCTGTCTGTCAACAGCGTG	0.512																																						ENST00000389682.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12						c.(466-468)gTc>gCc		translin							235.0	238.0	237.0					2																	122522723		2203	4300	6503	SO:0001583	missense	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122522723T>C	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.467T>C	2.37:g.122522723T>C	ENSP00000374332:p.Val156Ala					TSN_ENST00000409193.1_Missense_Mutation_p.V151A|TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Silent_p.C129C	p.V156A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN			6	714	+		Ovarian(717;0.0563)|Prostate(154;0.116)	156					B7Z3X8|Q5U0K7	Missense_Mutation	SNP	ENST00000389682.3	37	c.467T>C	CCDS33284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436439|4.436439	0.83885|0.83885	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Translin, C-terminal (1);	.|0.055540	.|0.64402	.|D	.|0.000001	D|D	0.84750|0.84750	0.5541|0.5541	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.81914	.|0.99;0.995	D|D	0.87835|0.87835	0.2647|0.2647	5|9	.|0.72032	.|D	.|0.01	-3.0948|-3.0948	15.3851|15.3851	0.74691|0.74691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|109;156	.|B3KRM8;Q15631	.|.;TSN_HUMAN	P|A	162|156;122;151	.|.	.|ENSP00000374332:V156A	S|V	+|+	1|2	0|0	TSN|TSN	122239193|122239193	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.766000|0.766000	0.43426|0.43426	7.675000|7.675000	0.84002|0.84002	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.512	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622		159	1481	0	0	0	1	0	159	1481				
USP6	9098	broad.mit.edu	37	17	5042898	5042898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042898G>A	ENST00000574788.1	+	22	3657	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	USP6_ENST00000332776.4_Missense_Mutation_p.S476N|USP6_ENST00000304328.5_Missense_Mutation_p.S159N|USP6_ENST00000250066.6_Missense_Mutation_p.S476N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	476					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGAATGGAGCTGCTGGGTC	0.592			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1426-1428)aGc>aAc		ubiquitin specific peptidase 6 (Tre-2 oncogene)							47.0	52.0	51.0					17																	5042898		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042898G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1427G>A	17.37:g.5042898G>A	ENSP00000460380:p.Ser476Asn					USP6_ENST00000332776.4_Missense_Mutation_p.S476N|USP6_ENST00000304328.5_Missense_Mutation_p.S159N|USP6_ENST00000250066.6_Missense_Mutation_p.S476N	p.S476N			P35125	UBP6_HUMAN			22	3657	+			476					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1427G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	9.053	0.992452	0.18966	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.17213	2.44;2.91;2.29	0.266	0.266	0.15617	.	0.110616	0.64402	D	0.000003	T	0.13670	0.0331	L	0.27053	0.805	0.09310	N	1	B;B	0.33000	0.393;0.273	B;B	0.42319	0.383;0.213	T	0.18840	-1.0324	9	0.54805	T	0.06	.	.	.	.	.	159;476	P35125-2;P35125	.;UBP6_HUMAN	N	476;476;159	ENSP00000328010:S476N;ENSP00000250066:S476N;ENSP00000305473:S159N	ENSP00000250066:S476N	S	+	2	0	USP6	4983622	0.463000	0.25799	0.029000	0.17559	0.028000	0.11728	1.033000	0.30191	0.390000	0.25115	0.391000	0.25812	AGC		0.592	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		70	284	0	0	0	1	0	70	284				
PNPLA7	375775	broad.mit.edu	37	9	140437993	140437993	+	Missense_Mutation	SNP	G	G	T	rs146033561		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140437993G>T	ENST00000277531.4	-	5	508	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Missense_Mutation_p.L133M	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	108					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTGGGCTGCAGGGCCGGGTAT	0.572																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(397-399)Ctg>Atg		patatin-like phospholipase domain containing 7							42.0	46.0	44.0					9																	140437993		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140437993G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.322C>A	9.37:g.140437993G>T	ENSP00000277531:p.Leu108Met					PNPLA7_ENST00000277531.4_Missense_Mutation_p.L108M	p.L133M	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	6	733	-	all_cancers(76;0.126)		108					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.397C>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519916	0.64634	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.64438	-0.09;-0.1;-0.08	4.19	0.496	0.16896	.	0.084717	0.49916	D	0.000137	T	0.72415	0.3457	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73380	0.978;0.98	T	0.70769	-0.4782	10	0.66056	D	0.02	-17.7145	8.5224	0.33285	0.3393:0.0:0.6607:0.0	.	133;108	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	M	108;133;108;99;133	ENSP00000277531:L108M;ENSP00000384610:L133M;ENSP00000400582:L99M	ENSP00000277531:L108M	L	-	1	2	PNPLA7	139557814	1.000000	0.71417	0.843000	0.33291	0.982000	0.71751	2.622000	0.46427	0.135000	0.18707	0.563000	0.77884	CTG		0.572	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		51	272	1	0	1.21353e-23	1	1.38083e-23	51	272				
CFAP44	55779	broad.mit.edu	37	3	113120491	113120491	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113120491A>G	ENST00000295868.2	-	10	1428	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Silent_p.N422N|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGAGATTCACATTCTTGTCTA	0.353																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1264-1266)aaT>aaC		WD repeat domain 52							120.0	119.0	120.0					3																	113120491		2203	4300	6503	SO:0001819	synonymous_variant	55779							g.chr3:113120491A>G																												ENST00000295868.2:c.1266T>C	3.37:g.113120491A>G						WDR52_ENST00000295868.2_Silent_p.N422N	p.N422N	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			10	1332	-			422						Silent	SNP	ENST00000295868.2	37	c.1266T>C	CCDS2972.1																																																																																				0.353	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			40	172	0	0	0	1	0	40	172				
ATP13A4	84239	broad.mit.edu	37	3	193171892	193171892	+	Silent	SNP	C	C	T	rs200015919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193171892C>T	ENST00000342695.4	-	17	2347	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	ATP13A4_ENST00000392443.3_Silent_p.T656T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	675						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCATTTACCTCGTCAAGGTAG	0.448																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2023-2025)acG>acA		ATPase type 13A4		C		1,4405	2.1+/-5.4	0,1,2202	125.0	105.0	112.0		2025	-6.6	0.0	3		112	0,8600		0,0,4300	no	coding-synonymous	ATP13A4	NM_032279.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		675/1197	193171892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193171892C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2025G>A	3.37:g.193171892C>T						ATP13A4_ENST00000392443.3_Silent_p.T656T	p.T675T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	17	2347	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		675					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2025G>A	CCDS3304.2																																																																																				0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		64	220	0	0	0	1	0	64	220				
ISLR	3671	broad.mit.edu	37	15	74467777	74467777	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467777C>T	ENST00000249842.3	+	2	935	c.578C>T	c.(577-579)aCa>aTa	p.T193I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.T193I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	193	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGCTCAAGACATGGGCCCTG	0.657																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(577-579)aCa>aTa		immunoglobulin superfamily containing leucine-rich repeat							56.0	47.0	50.0					15																	74467777		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467777C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.578C>T	15.37:g.74467777C>T	ENSP00000249842:p.Thr193Ile					ISLR_ENST00000395118.1_Missense_Mutation_p.T193I|RP11-665J16.1_ENST00000561647.1_RNA	p.T193I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	935	+			193			LRRCT.			Missense_Mutation	SNP	ENST00000249842.3	37	c.578C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168026	0.06461	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.52983	0.64;0.64	4.05	2.86	0.33363	Cysteine-rich flanking region, C-terminal (1);	1.087340	0.07255	U	0.866544	T	0.37183	0.0994	L	0.49350	1.555	0.09310	N	1	B	0.27625	0.183	B	0.16289	0.015	T	0.32161	-0.9917	10	0.42905	T	0.14	.	2.7872	0.05377	0.3256:0.4383:0.1303:0.1058	.	193	O14498	ISLR_HUMAN	I	193	ENSP00000249842:T193I;ENSP00000378550:T193I	ENSP00000249842:T193I	T	+	2	0	ISLR	72254830	0.469000	0.25846	0.855000	0.33649	0.120000	0.20174	1.615000	0.36922	1.822000	0.53115	0.313000	0.20887	ACA		0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		55	232	0	0	0	1	0	55	232				
RNF4	6047	broad.mit.edu	37	4	2502385	2502385	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2502385G>A	ENST00000511600.1	+	4	1639		c.e4-1		RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000314289.8_Splice_Site|RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site|RNF4_ENST00000509258.1_Splice_Site			P78317	RNF4_HUMAN	ring finger protein 4						androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TTCTTTTGAAGCTGGAGATGA	0.398																																						ENST00000511600.1																			0				endometrium(2)|kidney(2)|lung(1)	5						c.e4-1		ring finger protein 4							186.0	164.0	171.0					4																	2502385		1886	4135	6021	SO:0001630	splice_region_variant	6047				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:2502385G>A	U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.125-1G>A	4.37:g.2502385G>A						RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site|RNF4_ENST00000314289.8_Splice_Site|RNF4_ENST00000509258.1_Splice_Site				P78317	RNF4_HUMAN			4	1639	+		all_epithelial(65;0.241)						B2R6D6|D6RF58|Q49AR8	Splice_Site	SNP	ENST00000511600.1	37		CCDS47001.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855263	0.71719	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1961	0.82025	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF4	2472183	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.512000	0.67030	2.676000	0.91093	0.655000	0.94253	.		0.398	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1	NM_002938	Intron	10	161	0	0	0	1	0	10	161				
OGFR	11054	broad.mit.edu	37	20	61443875	61443875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61443875C>T	ENST00000290291.6	+	7	933	c.908C>T	c.(907-909)cCg>cTg	p.P303L	OGFR_ENST00000370461.1_Missense_Mutation_p.P251L	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	303					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CTGCCCCATCCGCTCGAGGGC	0.677																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(751-753)cCg>cTg		opioid growth factor receptor							8.0	8.0	8.0					20																	61443875		2167	4243	6410	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61443875C>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.908C>T	20.37:g.61443875C>T	ENSP00000290291:p.Pro303Leu					OGFR_ENST00000370468.3_Missense_Mutation_p.P303L|OGFR_ENST00000290291.6_Missense_Mutation_p.P303L	p.P251L			Q9NZT2	OGFR_HUMAN			5	3029	+	Breast(26;3.65e-08)		303					O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.752C>T	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268057	0.23136	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.41758	1.97;0.99;1.53	4.31	-3.48	0.04739	.	0.418121	0.17082	N	0.187748	T	0.17704	0.0425	N	0.17474	0.49	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.06770	-1.0808	10	0.48119	T	0.1	-2.4852	0.6694	0.00856	0.3498:0.1736:0.1162:0.3604	.	303;286;303	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	L	303;303;303;158;251	ENSP00000290291:P303L;ENSP00000359499:P303L;ENSP00000359491:P251L	ENSP00000290291:P303L	P	+	2	0	OGFR	60914320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.640000	0.02009	-0.506000	0.06558	-1.036000	0.02392	CCG		0.677	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			12	43	0	0	0	1	0	12	43				
OBSL1	23363	broad.mit.edu	37	2	220431577	220431577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220431577C>A	ENST00000404537.1	-	5	2165	c.2109G>T	c.(2107-2109)caG>caT	p.Q703H	OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	703					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGCTGAGTCCTGCACGCCGG	0.597																																						ENST00000404537.1																			0											c.(2107-2109)caG>caT		obscurin-like 1							55.0	58.0	57.0					2																	220431577		2070	4213	6283	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220431577C>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2109G>T	2.37:g.220431577C>A	ENSP00000385636:p.Gln703His					OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H	p.Q703H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	5	2165	-		Renal(207;0.0376)	703					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.2109G>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874794	0.17395	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.23	2.3	0.28687	.	.	.	.	.	T	0.30634	0.0771	L	0.33485	1.01	0.34611	D	0.717528	B;B;B;B	0.15719	0.014;0.002;0.009;0.014	B;B;B;B	0.24701	0.022;0.007;0.005;0.055	T	0.31251	-0.9950	9	0.44086	T	0.13	.	7.1136	0.25405	0.0:0.6768:0.1574:0.1658	.	704;703;290;703	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	H	703;703;703;703;290	ENSP00000265318:Q703H;ENSP00000385636:Q703H;ENSP00000362983:Q703H;ENSP00000362980:Q703H;ENSP00000289656:Q290H	ENSP00000265318:Q703H	Q	-	3	2	OBSL1	220139821	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.762000	0.26503	0.776000	0.33473	0.655000	0.94253	CAG		0.597	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			74	342	1	0	1.77355e-41	1	2.15486e-41	74	342				
SIX6	4990	broad.mit.edu	37	14	60977961	60977961	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60977961C>T	ENST00000327720.5	+	2	1180	c.732C>T	c.(730-732)tgC>tgT	p.C244C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	244					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACAGCGAGTGCGACATCTGAG	0.557																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(730-732)tgC>tgT		SIX homeobox 6							41.0	41.0	41.0					14																	60977961		2202	4298	6500	SO:0001819	synonymous_variant	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60977961C>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.732C>T	14.37:g.60977961C>T							p.C244C	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	2	1180	+			244					Q6NT42|Q9P1X8	Silent	SNP	ENST00000327720.5	37	c.732C>T	CCDS9747.1																																																																																				0.557	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			30	335	0	0	0	1	0	30	335				
ARMC5	79798	broad.mit.edu	37	16	31478178	31478178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31478178G>T	ENST00000563544.1	+	7	3322	c.2776G>T	c.(2776-2778)Ggg>Tgg	p.G926W	ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W|ARMC5_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000408912.3_Missense_Mutation_p.G1021W|ARMC5_ENST00000457010.2_3'UTR			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	926										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGTGGTGATGGGGATTGAGTT	0.637																																						ENST00000408912.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(3061-3063)Ggg>Tgg		armadillo repeat containing 5							32.0	39.0	36.0					16																	31478178		2018	4170	6188	SO:0001583	missense	79798						binding	g.chr16:31478178G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2776G>T	16.37:g.31478178G>T	ENSP00000456877:p.Gly926Trp					ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000563544.1_Missense_Mutation_p.G926W|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W	p.G1021W			Q96C12	ARMC5_HUMAN			8	3378	+			926					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.3061G>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682392	0.68157	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.59502	1.29;1.43;1.52;0.26	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000007	T	0.60534	0.2276	N	0.14661	0.345	0.45161	D	0.998174	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.66252	-0.5970	10	0.87932	D	0	-30.0352	13.8303	0.63377	0.0:0.0:1.0:0.0	.	958;958;1021;926	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	W	1021;958;926;570	ENSP00000386125:G1021W;ENSP00000443995:G958W;ENSP00000268314:G926W;ENSP00000400183:G570W	ENSP00000268314:G926W	G	+	1	0	ARMC5	31385679	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.971000	0.63749	2.636000	0.89361	0.448000	0.29417	GGG		0.637	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		7	104	1	0	0.00198382	1	0.00200138	7	104				
STXBP1	6812	broad.mit.edu	37	9	130425503	130425503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425503C>T	ENST00000373299.1	+	7	564	c.449C>T	c.(448-450)gCt>gTt	p.A150V	STXBP1_ENST00000373302.3_Missense_Mutation_p.A150V	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	150					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTGGACTCTGCTGACTCTTTC	0.478																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(448-450)gCt>gTt		syntaxin binding protein 1							93.0	95.0	94.0					9																	130425503		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130425503C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.449C>T	9.37:g.130425503C>T	ENSP00000362396:p.Ala150Val					STXBP1_ENST00000373299.1_Missense_Mutation_p.A150V	p.A150V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			7	588	+			150					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.449C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038450	0.75617	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.80480	-1.38;-1.38	5.64	5.64	0.86602	.	0.046500	0.85682	D	0.000000	T	0.67468	0.2896	N	0.08118	0	0.51233	D	0.999913	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.64381	-0.6421	10	0.66056	D	0.02	-0.806	17.2139	0.86937	0.0:1.0:0.0:0.0	.	150;150	P61764;P61764-2	STXB1_HUMAN;.	V	104;150;150	ENSP00000362399:A150V;ENSP00000362396:A150V	ENSP00000362396:A150V	A	+	2	0	STXBP1	129465324	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.598000	0.82745	2.661000	0.90470	0.561000	0.74099	GCT		0.478	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		27	687	0	0	0	1	0	27	687				
KCTD11	147040	broad.mit.edu	37	17	7256700	7256700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256700G>A	ENST00000333751.3	+	1	1493	c.439G>A	c.(439-441)Gat>Aat	p.D147N	TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	147					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GGCCAGTGGGGATAGGGCAGA	0.637																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(439-441)Gat>Aat		potassium channel tetramerization domain containing 11							78.0	70.0	73.0					17																	7256700		2203	4300	6503	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256700G>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.439G>A	17.37:g.7256700G>A	ENSP00000328352:p.Asp147Asn					RP11-542C16.1_ENST00000572417.1_RNA	p.D147N	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1493	+		Prostate(122;0.157)	147					B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.439G>A	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.500956	0.12822	.	.	ENSG00000213859	ENST00000333751	T	0.69040	-0.37	4.99	4.99	0.66335	.	0.487982	0.16655	U	0.205050	T	0.45216	0.1331	N	0.14661	0.345	0.31909	N	0.614981	B	0.23058	0.079	B	0.18871	0.023	T	0.37663	-0.9696	10	0.02654	T	1	.	13.7657	0.62992	0.0:0.0:1.0:0.0	.	147	Q693B1	KCD11_HUMAN	N	147	ENSP00000328352:D147N	ENSP00000328352:D147N	D	+	1	0	KCTD11	7197424	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	2.761000	0.47589	2.316000	0.78162	0.462000	0.41574	GAT		0.637	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		10	615	0	0	0	1	0	10	615				
ARHGEF37	389337	broad.mit.edu	37	5	148999941	148999941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148999941G>A	ENST00000333677.6	+	8	1082	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	307	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CAGGCCGCACGAATACAATCT	0.512																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(919-921)Gaa>Aaa		Rho guanine nucleotide exchange factor (GEF) 37							128.0	127.0	127.0					5																	148999941		1931	4133	6064	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148999941G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.919G>A	5.37:g.148999941G>A	ENSP00000328083:p.Glu307Lys						p.E307K	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			8	1082	+			307			BAR.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.919G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194412	0.22037	.	.	ENSG00000183111	ENST00000333677	T	0.58797	0.31	6.07	5.19	0.71726	BAR (2);	0.508022	0.22973	N	0.053418	T	0.54902	0.1887	M	0.75447	2.3	0.19300	N	0.999974	P	0.47962	0.903	B	0.43838	0.433	T	0.50457	-0.8826	10	0.11182	T	0.66	-0.0621	8.7577	0.34656	0.0787:0.1527:0.7685:0.0	.	307	A1IGU5	ARH37_HUMAN	K	307	ENSP00000328083:E307K	ENSP00000328083:E307K	E	+	1	0	ARHGEF37	148980134	0.815000	0.29118	0.153000	0.22517	0.012000	0.07955	2.143000	0.42187	1.553000	0.49476	0.650000	0.86243	GAA		0.512	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		17	579	0	0	0	1	0	17	579				
CGNL1	84952	broad.mit.edu	37	15	57731164	57731164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57731164G>A	ENST00000281282.5	+	2	1045	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	323	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCCATCCATGCCGACAACGT	0.498																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(967-969)Gcc>Acc		cingulin-like 1							59.0	54.0	56.0					15																	57731164		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731164G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.967G>A	15.37:g.57731164G>A	ENSP00000281282:p.Ala323Thr						p.A323T	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1045	+			323			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.967G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531946	0.85706	.	.	ENSG00000128849	ENST00000281282	T	0.49432	0.78	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000098	T	0.61640	0.2363	L	0.57536	1.79	0.39778	D	0.972257	D	0.57899	0.981	P	0.54924	0.764	T	0.64984	-0.6278	10	0.72032	D	0.01	-23.2504	19.8119	0.96549	0.0:0.0:1.0:0.0	.	323	Q0VF96	CGNL1_HUMAN	T	323	ENSP00000281282:A323T	ENSP00000281282:A323T	A	+	1	0	CGNL1	55518456	1.000000	0.71417	0.220000	0.23810	0.979000	0.70002	4.174000	0.58256	2.664000	0.90586	0.655000	0.94253	GCC		0.498	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		40	198	0	0	0	1	0	40	198				
IFT172	26160	broad.mit.edu	37	2	27670790	27670790	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27670790C>A	ENST00000260570.3	-	41	4532		c.e41-1			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172						bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TATTGAAGTTCTAGAGGTAGA	0.493																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.e41-1		intraflagellar transport 172 homolog (Chlamydomonas)							76.0	75.0	76.0					2																	27670790		2203	4300	6503	SO:0001630	splice_region_variant	26160				cilium assembly	cilium	binding	g.chr2:27670790C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4429-1G>T	2.37:g.27670790C>A								NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			41	4532	-	Acute lymphoblastic leukemia(172;0.155)							A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Splice_Site	SNP	ENST00000260570.3	37		CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034579	0.75617	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6508	0.88163	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27524294	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.616000	0.61197	2.524000	0.85096	0.561000	0.74099	.		0.493	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	Intron	72	248	1	0	1.15062e-32	1	1.35981e-32	72	248				
PCSK5	5125	broad.mit.edu	37	9	78771994	78771994	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78771994C>T	ENST00000545128.1	+	11	1884	c.1346C>T	c.(1345-1347)gCa>gTa	p.A449V	PCSK5_ENST00000376752.4_Missense_Mutation_p.A449V|PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	449	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGATGGACGCAGAAGCCATG	0.507																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1345-1347)gCa>gTa		proprotein convertase subtilisin/kexin type 5							160.0	135.0	144.0					9																	78771994		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78771994C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1346C>T	9.37:g.78771994C>T	ENSP00000446280:p.Ala449Val					PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V|PCSK5_ENST00000376752.4_Missense_Mutation_p.A449V	p.A449V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			11	1884	+			449			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1346C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	36	5.739395	0.96873	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94909	0.8063	10	0.87932	D	0	-17.4375	19.9458	0.97181	0.0:1.0:0.0:0.0	.	449;449	Q92824-2;B1AMG5	.;.	V	449;152;449;449;449;122	ENSP00000446280:A449V;ENSP00000365958:A449V;ENSP00000365943:A449V;ENSP00000411654:A122V	ENSP00000365943:A449V	A	+	2	0	PCSK5	77961814	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.474000	0.81024	2.720000	0.93068	0.591000	0.81541	GCA		0.507	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				109	412	0	0	0	1	0	109	412				
OR6M1	390261	broad.mit.edu	37	11	123676620	123676620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676620G>T	ENST00000309154.2	-	1	475	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCCACCCAGCATCCCAGAA	0.507																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(436-438)tgC>tgA		olfactory receptor, family 6, subfamily M, member 1							46.0	48.0	47.0					11																	123676620		2201	4299	6500	SO:0001587	stop_gained	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676620G>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.438C>A	11.37:g.123676620G>T	ENSP00000311038:p.Cys146*						p.C146*	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	475	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	146					B2RNK0|Q6IEW9|Q96R37	Nonsense_Mutation	SNP	ENST00000309154.2	37	c.438C>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810325	0.50421	.	.	ENSG00000196099	ENST00000309154	.	.	.	3.68	0.438	0.16560	.	0.000000	0.36167	U	0.002747	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	5.4638	0.16632	0.5274:0.0:0.4726:0.0	.	.	.	.	X	146	.	ENSP00000311038:C146X	C	-	3	2	OR6M1	123181830	0.000000	0.05858	0.740000	0.30986	0.589000	0.36550	-0.806000	0.04525	0.242000	0.21303	0.655000	0.94253	TGC		0.507	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		6	264	1	0	1	1	1	6	264				
RBBP6	5930	broad.mit.edu	37	16	24581622	24581622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581622C>T	ENST00000319715.4	+	17	4043	c.3611C>T	c.(3610-3612)gCg>gTg	p.A1204V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1204					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1204V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCTTTAAGTGCGCCAGCCAAA	0.368																																						ENST00000319715.4																			1	Substitution - Missense(1)	p.A1204V(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3610-3612)gCg>gTg		retinoblastoma binding protein 6							42.0	47.0	45.0					16																	24581622		2197	4298	6495	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581622C>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3611C>T	16.37:g.24581622C>T	ENSP00000317872:p.Ala1204Val					RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V|RBBP6_ENST00000381039.3_Intron	p.A1204V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	4043	+			1204					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.3611C>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	c	9.642	1.139303	0.21205	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17213	2.29;2.29	5.59	4.65	0.58169	.	0.314743	0.27227	N	0.020321	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.19679	-1.0298	10	0.41790	T	0.15	-2.5212	6.7918	0.23703	0.1431:0.7081:0.0:0.1488	.	1170;1204	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	1204;1170	ENSP00000317872:A1204V;ENSP00000316291:A1170V	ENSP00000317872:A1204V	A	+	2	0	RBBP6	24489123	0.998000	0.40836	0.735000	0.30896	0.050000	0.14768	2.636000	0.46545	1.368000	0.46115	-0.119000	0.15052	GCG		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		82	362	0	0	0	1	0	82	362				
KIAA1683	80726	broad.mit.edu	37	19	18368859	18368859	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18368859C>A	ENST00000600328.3	-	4	2867	c.2674G>T	c.(2674-2676)Gcc>Tcc	p.A892S	PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1079S|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A846S			Q9H0B3	K1683_HUMAN	KIAA1683	892						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCACCCCTGGCTGGCTCCCAT	0.652																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3235-3237)Gcc>Tcc		KIAA1683							62.0	62.0	62.0					19																	18368859		2202	4294	6496	SO:0001583	missense	80726					mitochondrion		g.chr19:18368859C>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2674G>T	19.37:g.18368859C>A	ENSP00000470780:p.Ala892Ser					KIAA1683_ENST00000600359.2_Missense_Mutation_p.A846S|KIAA1683_ENST00000600328.2_Missense_Mutation_p.A892S	p.A1079S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3450	-			1090					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.3235G>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	6.720	0.501628	0.12822	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.03330	4.13;4.05;3.97	2.8	-0.878	0.10617	.	0.495017	0.15187	N	0.275781	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B;B	0.29862	0.021;0.259	B;B	0.22386	0.014;0.039	T	0.48514	-0.9029	10	0.12766	T	0.61	-0.5975	4.5036	0.11876	0.0:0.3912:0.459:0.1498	.	1079;892	E9PDE0;Q9H0B3	.;K1683_HUMAN	S	1079;892;846;156;506	ENSP00000376213:A1079S;ENSP00000352774:A892S;ENSP00000404501:A846S	ENSP00000352774:A892S	A	-	1	0	KIAA1683	18229859	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.039000	0.12124	-0.084000	0.12595	0.462000	0.41574	GCC		0.652	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			30	793	1	0	1.80694e-10	1	1.9163e-10	30	793				
HECW1	23072	broad.mit.edu	37	7	43484384	43484384	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484384C>A	ENST00000395891.2	+	11	2218	c.1613C>A	c.(1612-1614)cCt>cAt	p.P538H	HECW1_ENST00000453890.1_Missense_Mutation_p.P538H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	538					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCTCCTTGCCTGTGTCCGAG	0.657																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1612-1614)cCt>cAt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							38.0	47.0	44.0					7																	43484384		2108	4227	6335	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484384C>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1613C>A	7.37:g.43484384C>A	ENSP00000379228:p.Pro538His					HECW1_ENST00000453890.1_Missense_Mutation_p.P538H	p.P538H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2218	+			538					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1613C>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.471918	0.43942	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.63913	1.02;-0.07	5.32	3.53	0.40419	.	1.104460	0.06890	N	0.804018	T	0.71745	0.3376	L	0.59436	1.845	0.52099	D	0.999947	D;D	0.58970	0.984;0.984	P;P	0.54372	0.75;0.75	T	0.61212	-0.7108	10	0.87932	D	0	.	11.6784	0.51442	0.0:0.8567:0.0:0.1433	.	538;538	B4DH42;Q76N89	.;HECW1_HUMAN	H	538	ENSP00000379228:P538H;ENSP00000407774:P538H	ENSP00000265522:P538H	P	+	2	0	HECW1	43450909	1.000000	0.71417	0.010000	0.14722	0.236000	0.25371	4.701000	0.61810	0.635000	0.30488	-0.136000	0.14681	CCT		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		10	270	1	0	1.58986e-06	1	1.64048e-06	10	270				
TMPO	7112	broad.mit.edu	37	12	98941365	98941365	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98941365G>T	ENST00000556029.1	+	9	1450	c.1094G>T	c.(1093-1095)aGa>aTa	p.R365I	TMPO_ENST00000343315.5_Missense_Mutation_p.R325I|TMPO_ENST00000393053.2_Missense_Mutation_p.R256I|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	365	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTTGCCGCAGACCAATCAAA	0.408																																						ENST00000556029.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1093-1095)aGa>aTa		thymopoietin							50.0	55.0	53.0					12																	98941365		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98941365G>T		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1094G>T	12.37:g.98941365G>T	ENSP00000450627:p.Arg365Ile					TMPO_ENST00000343315.5_Missense_Mutation_p.R325I|TMPO_ENST00000393053.2_Missense_Mutation_p.R256I|TMPO_ENST00000548223.1_3'UTR	p.R365I	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN			9	1450	+			365			Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1094G>T	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160451	0.78226	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	T;T;T;T	0.81247	-0.46;-0.54;-0.79;-1.47	5.35	5.35	0.76521	.	.	.	.	.	D	0.90103	0.6908	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.991;0.994	D	0.90623	0.4561	9	0.66056	D	0.02	.	19.4355	0.94792	0.0:0.0:1.0:0.0	.	289;365	Q59G12;P42167	.;LAP2B_HUMAN	I	365;325;256;200	ENSP00000450627:R365I;ENSP00000340251:R325I;ENSP00000376773:R256I;ENSP00000451552:R200I	ENSP00000340251:R365I	R	+	2	0	TMPO	97465496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.512000	0.67030	2.668000	0.90789	0.655000	0.94253	AGA		0.408	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		57	256	1	0	2.53126e-37	1	3.03882e-37	57	256				
LRP4	4038	broad.mit.edu	37	11	46911059	46911059	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	706	EGF-like 3.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCAGCCTCCGTTGTTGTCCC	0.587											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2116-2118)aaC>aaT		low density lipoprotein receptor-related protein 4							75.0	72.0	73.0					11																	46911059		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46911059G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2118C>T	11.37:g.46911059G>A			OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.N706N	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	16	2360	-			706			EGF-like 3.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.2118C>T	CCDS31478.1																																																																																				0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		113	450	0	0	0	1	0	113	450				
CCT6A	908	broad.mit.edu	37	7	56125777	56125777	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56125777T>C	ENST00000275603.4	+	6	925	c.706T>C	c.(706-708)Tca>Cca	p.S236P	CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P|SNORA22_ENST00000383876.1_RNA|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	236					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGTAACGTGTCATTAGAGTA	0.408																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(706-708)Tca>Cca		chaperonin containing TCP1, subunit 6A (zeta 1)							75.0	66.0	69.0					7																	56125777		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56125777T>C	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.706T>C	7.37:g.56125777T>C	ENSP00000275603:p.Ser236Pro					CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P|CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P	p.S236P	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	925	+	Breast(14;0.214)		236					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.706T>C	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344422	0.61073	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78707	-1.2;-1.2;-1.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	L	0.45285	1.41	0.80722	D	1	D;B;B	0.58620	0.983;0.177;0.244	P;B;B	0.59948	0.866;0.174;0.215	T	0.77970	-0.2387	10	0.23891	T	0.37	-12.187	14.7035	0.69171	0.0:0.0:0.0:1.0	.	205;191;236	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	P	236;191;205;94	ENSP00000275603:S236P;ENSP00000352019:S191P;ENSP00000438488:S205P	ENSP00000275603:S236P	S	+	1	0	CCT6A	56093271	1.000000	0.71417	0.991000	0.47740	0.029000	0.11900	7.291000	0.78721	2.151000	0.67156	0.397000	0.26171	TCA		0.408	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		33	154	0	0	0	1	0	33	154				
KCNK13	56659	broad.mit.edu	37	14	90650750	90650750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650750C>A	ENST00000282146.4	+	2	1071	c.630C>A	c.(628-630)tgC>tgA	p.C210*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	210					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATCTCTTGCTGCGCCTCAG	0.567																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(628-630)tgC>tgA		potassium channel, subfamily K, member 13							167.0	141.0	149.0					14																	90650750		2203	4300	6503	SO:0001587	stop_gained	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650750C>A	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.630C>A	14.37:g.90650750C>A	ENSP00000282146:p.Cys210*						p.C210*	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1071	+		all_cancers(154;0.186)	210					B5TJL8|Q96E79	Nonsense_Mutation	SNP	ENST00000282146.4	37	c.630C>A	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716592	0.96830	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.31	4.41	0.53225	.	0.000000	0.45126	D	0.000387	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.074	0.36511	0.0:0.7791:0.0:0.2209	.	.	.	.	X	210	.	ENSP00000282146:C210X	C	+	3	2	KCNK13	89720503	1.000000	0.71417	0.996000	0.52242	0.326000	0.28443	0.957000	0.29215	2.476000	0.83614	0.655000	0.94253	TGC		0.567	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		146	744	1	0	8.66588e-61	1	1.0903e-60	146	744				
RALGPS1	9649	broad.mit.edu	37	9	129958828	129958828	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	371					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1111-1113)gaC>gaT		Ral GEF with PH domain and SH3 binding motif 1							175.0	158.0	164.0					9																	129958828		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129958828C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1113C>T	9.37:g.129958828C>T						RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	p.D371D	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			13	1380	+			371					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.1113C>T	CCDS35143.1																																																																																				0.537	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		80	388	0	0	0	1	0	80	388				
PRAMEF12	390999	broad.mit.edu	37	1	12836043	12836043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12836043G>A	ENST00000357726.4	+	2	672	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	215					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGTGGGAGCTGTCCATTC	0.517																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(643-645)gaG>gaA		PRAME family member 12							156.0	163.0	161.0					1																	12836043		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12836043G>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.645G>A	1.37:g.12836043G>A							p.E215E	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	672	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	215						Silent	SNP	ENST00000357726.4	37	c.645G>A	CCDS41254.1																																																																																				0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		59	553	0	0	0	1	0	59	553				
RBM19	9904	broad.mit.edu	37	12	114385222	114385222	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114385222G>T	ENST00000545145.2	-	11	1402	c.1324C>A	c.(1324-1326)Ccc>Acc	p.P442T	RBM19_ENST00000261741.5_Missense_Mutation_p.P442T|RBM19_ENST00000392561.3_Missense_Mutation_p.P442T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	442	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAACCCTTGGGTTTCTTGGTC	0.602																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1324-1326)Ccc>Acc		RNA binding motif protein 19							133.0	114.0	121.0					12																	114385222		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114385222G>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1324C>A	12.37:g.114385222G>T	ENSP00000442053:p.Pro442Thr					RBM19_ENST00000261741.5_Missense_Mutation_p.P442T|RBM19_ENST00000392561.3_Missense_Mutation_p.P442T	p.P442T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			11	1402	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		442			RRM 3.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1324C>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585491	0.28268	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06371	3.31;3.31;3.31	5.15	4.24	0.50183	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116307	0.64402	D	0.000014	T	0.08088	0.0202	L	0.33245	0.995	0.52099	D	0.999942	B	0.24186	0.099	B	0.36378	0.223	T	0.29458	-1.0011	10	0.19147	T	0.46	-24.7373	14.8359	0.70183	0.0:0.0:0.8547:0.1453	.	442	Q9Y4C8	RBM19_HUMAN	T	442	ENSP00000442053:P442T;ENSP00000376344:P442T;ENSP00000261741:P442T	ENSP00000261741:P442T	P	-	1	0	RBM19	112869605	1.000000	0.71417	0.926000	0.36857	0.982000	0.71751	6.171000	0.71926	1.141000	0.42275	0.655000	0.94253	CCC		0.602	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		11	340	1	0	3.86212e-05	1	3.93988e-05	11	340				
CYTH2	9266	broad.mit.edu	37	19	48977504	48977504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48977504C>T	ENST00000452733.2	+	7	1089	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	CYTH2_ENST00000427476.1_Missense_Mutation_p.R205W			Q99418	CYH2_HUMAN	cytohesin 2	205					actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCCAATGTCCGGGACAAGCC	0.637																																						ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(613-615)Cgg>Tgg		cytohesin 2							102.0	86.0	91.0					19																	48977504		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48977504C>T	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.613C>T	19.37:g.48977504C>T	ENSP00000408236:p.Arg205Trp					CYTH2_ENST00000452733.2_Missense_Mutation_p.R205W	p.R205W	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			7	913	+			205					A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.613C>T	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462289	0.63513	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.55930	0.49;0.49;0.49	4.16	0.172	0.15031	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.70903	2.155	0.54753	D	0.999981	D	0.65815	0.995	D	0.63793	0.918	T	0.68693	-0.5341	10	0.87932	D	0	.	11.7766	0.51989	0.3952:0.6048:0.0:0.0	.	205	Q99418-2	.	W	205;205;227	ENSP00000408236:R205W;ENSP00000391648:R205W;ENSP00000314566:R227W	ENSP00000314566:R227W	R	+	1	2	CYTH2	53669316	0.954000	0.32549	0.971000	0.41717	0.651000	0.38670	1.644000	0.37228	0.320000	0.23234	0.561000	0.74099	CGG		0.637	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		96	491	0	0	0	1	0	96	491				
HEATR3	55027	broad.mit.edu	37	16	50104168	50104168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50104168C>T	ENST00000299192.7	+	4	670	c.479C>T	c.(478-480)gCc>gTc	p.A160V	HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	160										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGAACATAGCCAATGAGACT	0.408																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(478-480)gCc>gTc		HEAT repeat containing 3							106.0	97.0	100.0					16																	50104168		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50104168C>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.479C>T	16.37:g.50104168C>T	ENSP00000299192:p.Ala160Val					HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	p.A160V	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			4	670	+			160					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.479C>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483595	0.84854	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.63913	-0.07;-0.07	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.55481	1.735	0.80722	D	1	P;D	0.89917	0.885;1.0	P;D	0.83275	0.465;0.996	T	0.64441	-0.6407	10	0.06757	T	0.87	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	74;160	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	V	74;160	ENSP00000285767:A74V;ENSP00000299192:A160V	ENSP00000285767:A74V	A	+	2	0	HEATR3	48661669	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.510000	0.73729	2.861000	0.98227	0.655000	0.94253	GCC		0.408	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		41	238	0	0	0	1	0	41	238				
IGKV1-6	28943	broad.mit.edu	37	2	89265834	89265834	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:89265834G>T	ENST00000464162.1	-	0	326									immunoglobulin kappa variable 1-6																		TCAGGCTGCAGGCTGCTGATG	0.483																																						ENST00000464162.1																			0																				159.0	153.0	155.0					2																	89265834		1881	4111	5992			0							g.chr2:89265834G>T	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89265834G>T														0	326	-									RNA	SNP	ENST00000464162.1	37																																																																																						0.483	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		290	846	1	0	4.82841e-108	1	6.21493e-108	290	846				
FHL2	2274	broad.mit.edu	37	2	105977891	105977891	+	Splice_Site	SNP	C	C	T	rs568647217		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105977891C>T	ENST00000409807.1	-	6	1023	c.689G>A	c.(688-690)gGa>gAa	p.G230E	FHL2_ENST00000393353.3_Splice_Site_p.G230E|FHL2_ENST00000393352.3_Splice_Site_p.G230E|FHL2_ENST00000358129.4_Splice_Site_p.G230E|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000344213.4_Splice_Site_p.G340E|FHL2_ENST00000322142.8_Splice_Site_p.G230E|FHL2_ENST00000409177.1_Splice_Site_p.G346E|FHL2_ENST00000408995.1_Splice_Site_p.G230E			Q14192	FHL2_HUMAN	four and a half LIM domains 2	230	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						GCCACCAAGTCCTGTTAACAG	0.443																																						ENST00000409177.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.e6-1		four and a half LIM domains 2							86.0	75.0	79.0					2																	105977891		2203	4300	6503	SO:0001630	splice_region_variant	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:105977891C>T		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.689-1G>A	2.37:g.105977891C>T						FHL2_ENST00000344213.4_Splice_Site_p.G340_splice|FHL2_ENST00000408995.1_Splice_Site_p.G230_splice|FHL2_ENST00000409807.1_Splice_Site_p.G230_splice|FHL2_ENST00000393352.3_Splice_Site_p.G230_splice|FHL2_ENST00000358129.4_Splice_Site_p.G230_splice|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393353.3_Splice_Site_p.G230_splice|FHL2_ENST00000322142.8_Splice_Site_p.G230_splice	p.G346_splice			Q14192	FHL2_HUMAN			6	1158	-			230					Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Splice_Site	SNP	ENST00000409807.1	37	c.1036_splice	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238043	0.95240	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	T;T;T;T;T;T;T;T	0.61158	0.2;0.13;0.2;0.2;0.2;0.2;0.2;0.2	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.052402	0.85682	D	0.000000	T	0.74313	0.3700	L	0.60067	1.865	0.80722	D	1	P;P;D;P	0.76494	0.698;0.92;0.999;0.698	P;P;D;P	0.81914	0.58;0.742;0.995;0.58	T	0.76195	-0.3048	10	0.87932	D	0	.	19.3931	0.94592	0.0:1.0:0.0:0.0	.	230;230;340;230	Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	E	230;340;230;230;230;230;230;230	ENSP00000386892:G230E;ENSP00000344266:G340E;ENSP00000377021:G230E;ENSP00000377020:G230E;ENSP00000322909:G230E;ENSP00000350846:G230E;ENSP00000386665:G230E;ENSP00000386633:G230E	ENSP00000322909:G230E	G	-	2	0	FHL2	105344323	1.000000	0.71417	0.949000	0.38748	0.976000	0.68499	5.914000	0.69964	2.634000	0.89283	0.650000	0.86243	GGA		0.443	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1		Missense_Mutation	56	303	0	0	0	1	0	56	303				
RBPJ	3516	broad.mit.edu	37	4	26417218	26417218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26417218G>T	ENST00000361572.6	+	4	510	c.316G>T	c.(316-318)Gga>Tga	p.G106*	RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.G92*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	106					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATTGGGATAGGAAATAGTGA	0.413																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(274-276)Gga>Tga		recombination signal binding protein for immunoglobulin kappa J region							138.0	144.0	142.0					4																	26417218		2203	4300	6503	SO:0001587	stop_gained	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26417218G>T	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.316G>T	4.37:g.26417218G>T	ENSP00000354528:p.Gly106*					RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.G106*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*	p.G92*			Q06330	SUH_HUMAN			4	450	+		Breast(46;0.0503)	106					B4DY22|Q5XKH9|Q6P1N3	Nonsense_Mutation	SNP	ENST00000361572.6	37	c.274G>T	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278968	0.95489	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.5728	19.4292	0.94758	0.0:0.0:1.0:0.0	.	.	.	.	X	92;129;92;106;91;106;106;93;92;71;92;71;92;71;92;92;92;71	.	ENSP00000345206:G106X	G	+	1	0	RBPJ	26026316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.378000	0.97191	2.664000	0.90586	0.650000	0.86243	GGA		0.413	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		144	665	1	0	8.174e-68	1	1.03582e-67	144	665				
DNLZ	728489	broad.mit.edu	37	9	139256578	139256578	+	Silent	SNP	G	G	A	rs144760803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139256578G>A	ENST00000371738.3	-	3	497	c.423C>T	c.(421-423)ggC>ggT	p.G141G	DNLZ_ENST00000371739.3_Nonsense_Mutation_p.R95*|CARD9_ENST00000460290.1_5'Flank	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	141						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GGGCCCCCTCGCCCGCCACAC	0.682																																						ENST00000371739.3																			0				central_nervous_system(1)|prostate(1)	2						c.(283-285)Cga>Tga		DNL-type zinc finger		G		1,4391		0,1,2195	21.0	27.0	25.0		423	-3.8	0.0	9	dbSNP_134	25	0,8588		0,0,4294	no	coding-synonymous	DNLZ	NM_001080849.1		0,1,6489	AA,AG,GG		0.0,0.0228,0.0077		141/179	139256578	1,12979	2196	4294	6490	SO:0001819	synonymous_variant	728489						metal ion binding	g.chr9:139256578G>A	AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"""Zinc fingers"""	33879	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 15 homolog (yeast)"", ""HSP70 escort protein"""		"""chromosome 9 open reading frame 151"""	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.423C>T	9.37:g.139256578G>A						DNLZ_ENST00000371738.3_Silent_p.G141G	p.R95*			Q5SXM8	DNLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)	2	287	-		Myeloproliferative disorder(178;0.0821)	0					B2RUX5|B9EJE1	Nonsense_Mutation	SNP	ENST00000371738.3	37	c.283C>T	CCDS35179.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014166	0.35511	2.28E-4	0.0	ENSG00000213221	ENST00000371739	.	.	.	4.15	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.23043	N	0.998385	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0189	6.9767	0.24679	0.5466:0.2312:0.2222:0.0	.	.	.	.	X	95	.	ENSP00000360804:R95X	R	-	1	2	DNLZ	138376399	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-2.821000	0.00749	-0.993000	0.03467	0.491000	0.48974	CGA		0.682	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055075.2	NM_001080849		25	168	0	0	0	1	0	25	168				
DNAH3	55567	broad.mit.edu	37	16	21049222	21049222	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21049222C>T	ENST00000261383.3	-	34	4810	c.4811G>A	c.(4810-4812)cGc>cAc	p.R1604H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1604	AAA 1. {ECO:0000250}.			YGMR -> FGLH (in Ref. 5; CAB06059). {ECO:0000305}.	cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGACAGCGCGCATACCGTA	0.522																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4810-4812)cGc>cAc		dynein, axonemal, heavy chain 3							124.0	97.0	106.0					16																	21049222		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049222C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4811G>A	16.37:g.21049222C>T	ENSP00000261383:p.Arg1604His					DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	p.R1604H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4810	-			1604	YGMR -> FGLH (in Ref. 5; CAB06059).		AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4811G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393775	0.96009	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.67865	-0.29;-0.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93649	0.6971	10	0.87932	D	0	.	19.9616	0.97254	0.0:1.0:0.0:0.0	.	1604	Q8TD57	DYH3_HUMAN	H	1604	ENSP00000261383:R1604H;ENSP00000394245:R1604H	ENSP00000261383:R1604H	R	-	2	0	DNAH3	20956723	1.000000	0.71417	0.986000	0.45419	0.814000	0.46013	7.764000	0.85297	2.724000	0.93272	0.561000	0.74099	CGC		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		45	166	0	0	0	1	0	45	166				
SPHKAP	80309	broad.mit.edu	37	2	228996712	228996712	+	Missense_Mutation	SNP	A	A	G	rs77015733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228996712A>G	ENST00000392056.3	-	2	168	c.122T>C	c.(121-123)aTc>aCc	p.I41T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	41						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAGGCTGTGATGGAGTTCCC	0.473																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(121-123)aTc>aCc		SPHK1 interactor, AKAP domain containing							90.0	96.0	94.0					2																	228996712		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228996712A>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.122T>C	2.37:g.228996712A>G	ENSP00000375909:p.Ile41Thr					SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	p.I41T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	2	168	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	41					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.122T>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129324	0.37630	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.36340	1.26;1.26	5.63	5.63	0.86233	.	0.151419	0.44483	D	0.000459	T	0.27524	0.0676	N	0.14661	0.345	0.39407	D	0.966687	P;P	0.47762	0.839;0.9	B;P	0.44990	0.276;0.466	T	0.14062	-1.0486	10	0.59425	D	0.04	-12.1023	12.5296	0.56106	1.0:0.0:0.0:0.0	.	41;41	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	41	ENSP00000375909:I41T;ENSP00000339886:I41T	ENSP00000339886:I41T	I	-	2	0	SPHKAP	228704956	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.777000	0.62361	2.281000	0.76405	0.533000	0.62120	ATC		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		55	366	0	0	0	1	0	55	366				
HNRNPM	4670	broad.mit.edu	37	19	8528515	8528515	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8528515C>A	ENST00000325495.4	+	5	424	c.383C>A	c.(382-384)gCt>gAt	p.A128D	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A128D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	128	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATGAAAAAAGCTGCGGAAGTC	0.413																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(382-384)gCt>gAt		heterogeneous nuclear ribonucleoprotein M							148.0	123.0	131.0					19																	8528515		2203	4300	6503	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8528515C>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.383C>A	19.37:g.8528515C>A	ENSP00000325376:p.Ala128Asp					HNRNPM_ENST00000325495.4_Missense_Mutation_p.A128D	p.A128D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			5	615	+			128			RRM 1.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.383C>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248285	0.80024	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	D;T	0.88354	-2.37;1.16	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.97090	0.9790	10	0.87932	D	0	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	128;128;128;28	P52272;P52272-2;B4DEG4;Q59ES8	HNRPM_HUMAN;.;.;.	D	128;128;28	ENSP00000325376:A128D;ENSP00000325732:A128D	ENSP00000325376:A128D	A	+	2	0	HNRNPM	8434515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCT		0.413	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			74	279	1	0	6.20995e-33	1	7.34829e-33	74	279				
A2ML1	144568	broad.mit.edu	37	12	9010616	9010616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9010616A>C	ENST00000299698.7	+	26	3362	c.3182A>C	c.(3181-3183)gAt>gCt	p.D1061A	A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AACATCCAGGATGCTCTCAAG	0.488																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3181-3183)gAt>gCt		alpha-2-macroglobulin-like 1							101.0	99.0	100.0					12																	9010616		1972	4153	6125	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9010616A>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3182A>C	12.37:g.9010616A>C	ENSP00000299698:p.Asp1061Ala					A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	p.D1061A	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			26	3362	+			905						Missense_Mutation	SNP	ENST00000299698.7	37	c.3182A>C	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378609	0.24944	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.37584	1.19;1.19;1.19	3.85	-0.536	0.11876	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.601795	0.15417	N	0.263424	T	0.24236	0.0587	L	0.28400	0.85	0.09310	N	1	P	0.37548	0.599	B	0.41135	0.348	T	0.15009	-1.0452	10	0.30854	T	0.27	.	6.1607	0.20362	0.4837:0.3779:0.0:0.1384	.	1061	A8K2U0	A2ML1_HUMAN	A	1061;1061;611;570	ENSP00000299698:D1061A;ENSP00000443174:D611A;ENSP00000438292:D570A	ENSP00000299698:D1061A	D	+	2	0	A2ML1	8901883	0.080000	0.21391	0.998000	0.56505	0.597000	0.36814	1.458000	0.35223	0.129000	0.18514	-0.333000	0.08304	GAT		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		98	364	0	0	0	1	0	98	364				
LACE1	246269	broad.mit.edu	37	6	108687502	108687502	+	Silent	SNP	C	C	T	rs370599565		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108687502C>T	ENST00000368977.4	+	6	900	c.714C>T	c.(712-714)gtC>gtT	p.V238V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	238						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAAACGGGGTCGTCGTTGTGG	0.373																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(712-714)gtC>gtT		lactation elevated 1		C		0,4406		0,0,2203	62.0	59.0	60.0		714	5.8	1.0	6		60	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	LACE1	NM_145315.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		238/482	108687502	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	246269						ATP binding	g.chr6:108687502C>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.714C>T	6.37:g.108687502C>T							p.V238V	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	6	900	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	238					Q8N6A3	Silent	SNP	ENST00000368977.4	37	c.714C>T	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090020	0.20390	0.0	2.33E-4	ENSG00000135537	ENST00000421954	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50931	-0.8769	4	.	.	.	-10.1505	7.6285	0.28226	0.0:0.8056:0.0:0.1944	.	.	.	.	L	106	.	.	S	+	2	0	LACE1	108794195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.874000	0.28065	2.755000	0.94549	0.655000	0.94253	TCG		0.373	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		17	115	0	0	0	1	0	17	115				
CLRN1	7401	broad.mit.edu	37	3	150645882	150645882	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150645882C>T	ENST00000327047.1	-	3	830	c.540G>A	c.(538-540)acG>acA	p.T180T	CLRN1_ENST00000295911.2_Silent_p.T104T|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.T193T|RP11-166N6.2_ENST00000469268.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	180					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTCACTTTGCGTTTTGTAGA	0.368																																						ENST00000327047.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14						c.(538-540)acG>acA		clarin 1							71.0	75.0	73.0					3																	150645882		2203	4300	6503	SO:0001819	synonymous_variant	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150645882C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.540G>A	3.37:g.150645882C>T						RP11-166N6.3_ENST00000569170.1_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.T193T|CLRN1_ENST00000295911.2_Silent_p.T104T|CLRN1-AS1_ENST00000476886.1_RNA	p.T180T	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	830	-			180					D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	c.540G>A	CCDS3153.1																																																																																				0.368	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			54	220	0	0	0	1	0	54	220				
PDE1B	5153	broad.mit.edu	37	12	54969384	54969384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54969384G>A	ENST00000243052.3	+	12	1671	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H|PDE1B_ENST00000538346.1_Missense_Mutation_p.R371H|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	412	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTCTGTGACCGCACTTCCACT	0.572																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1234-1236)cGc>cAc		phosphodiesterase 1B, calmodulin-dependent							127.0	116.0	120.0					12																	54969384		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54969384G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1235G>A	12.37:g.54969384G>A	ENSP00000243052:p.Arg412His					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R371H	p.R412H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			12	1671	+			412			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.1235G>A	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022590	0.93462	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.84873	-1.91;-1.91;-1.91	4.85	4.85	0.62838	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000001	D	0.94791	0.8318	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96332	0.9244	10	0.87932	D	0	.	15.8505	0.78927	0.0:0.0:1.0:0.0	.	392;412	Q01064-2;Q01064	.;PDE1B_HUMAN	H	412;371;392	ENSP00000243052:R412H;ENSP00000442559:R371H;ENSP00000448519:R392H	ENSP00000243052:R412H	R	+	2	0	PDE1B	53255651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.699000	0.98703	2.402000	0.81655	0.655000	0.94253	CGC		0.572	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			84	436	0	0	0	1	0	84	436				
BEND7	222389	broad.mit.edu	37	10	13489312	13489312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13489312G>A	ENST00000396900.2	-	8	1187	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Silent_p.I357I|BEND7_ENST00000341083.3_Silent_p.I345I|BEND7_ENST00000396898.2_Silent_p.I409I			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	396						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACTGTCCGCGATCTCTGCTG	0.383																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(1033-1035)atC>atT		BEN domain containing 7							181.0	155.0	164.0					10																	13489312		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13489312G>A	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1188C>T	10.37:g.13489312G>A						BEND7_ENST00000378605.3_Silent_p.I357I|BEND7_ENST00000396900.2_Silent_p.I396I|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396898.2_Silent_p.I409I	p.I345I	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			8	1331	-			396			BEN.		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.1035C>T																																																																																					0.383	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		54	436	0	0	0	1	0	54	436				
MORC3	23515	broad.mit.edu	37	21	37717329	37717329	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37717329G>T	ENST00000400485.1	+	8	1081	c.1005G>T	c.(1003-1005)agG>agT	p.R335S	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	335					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTCAGTTAAGGGTAAGCTTTA	0.284																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.e8+1		MORC family CW-type zinc finger 3							67.0	66.0	66.0					21																	37717329		1805	4070	5875	SO:0001630	splice_region_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37717329G>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1005+1G>T	21.37:g.37717329G>T						MORC3_ENST00000487909.1_3'UTR	p.R335_splice	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			8	1081	+			335					A8KA92|Q9UEZ2	Splice_Site	SNP	ENST00000400485.1	37	c.1005_splice	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010232	0.75046	.	.	ENSG00000159256	ENST00000400485	T	0.13657	2.57	5.51	5.51	0.81932	.	0.299915	0.40640	N	0.001045	T	0.09291	0.0229	N	0.04508	-0.205	0.80722	D	1	B	0.23185	0.081	B	0.21546	0.035	T	0.29427	-1.0012	10	0.62326	D	0.03	-11.3544	19.4173	0.94706	0.0:0.0:1.0:0.0	.	335	Q14149	MORC3_HUMAN	S	335	ENSP00000383333:R335S	ENSP00000383333:R335S	R	+	3	2	MORC3	36639199	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.798000	0.85924	2.588000	0.87417	0.655000	0.94253	AGG		0.284	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	Missense_Mutation	8	173	1	0	0.00448238	1	0.00451339	8	173				
LOC101927016	101927016	broad.mit.edu	37	13	64321008	64321008	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:64321008C>A	ENST00000453638.2	+	1	75	c.75C>A	c.(73-75)ggC>ggA	p.G25G	RP11-473M10.3_ENST00000418943.1_lincRNA																endometrium(2)|lung(1)|urinary_tract(1)	4						ctggttatggctatggctatg	0.527																																						ENST00000453638.2																			0				endometrium(2)|lung(1)|urinary_tract(1)	4						c.(73-75)ggC>ggA																																						SO:0001819	synonymous_variant	0							g.chr13:64321008C>A																												ENST00000453638.2:c.75C>A	13.37:g.64321008C>A							p.G25G							1	75	+									Silent	SNP	ENST00000453638.2	37	c.75C>A																																																																																					0.527	AL445989.1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				47	178	1	0	3.70713e-34	1	4.40594e-34	47	178				
INF2	64423	broad.mit.edu	37	14	105180722	105180722	+	Missense_Mutation	SNP	C	C	T	rs376685243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105180722C>T	ENST00000392634.4	+	21	3335	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1075					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGGAGAGGCGTTCTTCCTG	0.677																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3223-3225)Cgt>Tgt		inverted formin, FH2 and WH2 domain containing							40.0	48.0	45.0					14																	105180722		1935	4114	6049	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105180722C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3223C>T	14.37:g.105180722C>T	ENSP00000376410:p.Arg1075Cys					INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	p.R1075C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3335	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1075					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3223C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726340	0.48833	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.82255	-1.58;-1.59	4.06	3.15	0.36227	.	2.226690	0.02138	N	0.056942	D	0.86264	0.5891	L	0.34521	1.04	0.47065	D	0.9993	D;D	0.89917	1.0;0.999	P;P	0.60886	0.88;0.761	T	0.73783	-0.3874	10	0.72032	D	0.01	.	9.5272	0.39171	0.2117:0.7883:0.0:0.0	.	1075;1075	Q27J81-2;Q27J81	.;INF2_HUMAN	C	1075	ENSP00000376406:R1075C;ENSP00000376410:R1075C	ENSP00000252527:R543C	R	+	1	0	INF2	104251767	1.000000	0.71417	0.077000	0.20336	0.958000	0.62258	2.098000	0.41757	0.979000	0.38497	0.491000	0.48974	CGT		0.677	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		11	54	0	0	0	1	0	11	54				
MOCOS	55034	broad.mit.edu	37	18	33780166	33780166	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33780166G>A	ENST00000261326.5	+	4	841	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGCCTGGGCGCTCTGCTGGT	0.562																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(820-822)Gct>Act		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						52.0	49.0	50.0					18																	33780166		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33780166G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.820G>A	18.37:g.33780166G>A	ENSP00000261326:p.Ala274Thr						p.A274T	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			4	841	+			274						Missense_Mutation	SNP	ENST00000261326.5	37	c.820G>A	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730474	0.89390	.	.	ENSG00000075643	ENST00000261326	D	0.87491	-2.26	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	H	0.95982	3.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.96869	0.9638	10	0.87932	D	0	-17.3464	17.225	0.86967	0.0:0.0:1.0:0.0	.	274	Q96EN8	MOCOS_HUMAN	T	274	ENSP00000261326:A274T	ENSP00000261326:A274T	A	+	1	0	MOCOS	32034164	1.000000	0.71417	0.691000	0.30163	0.516000	0.34256	9.708000	0.98727	2.677000	0.91161	0.561000	0.74099	GCT		0.562	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			14	264	0	0	0	1	0	14	264				
IGHMBP2	3508	broad.mit.edu	37	11	68707097	68707097	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68707097C>A	ENST00000255078.3	+	15	2991	c.2880C>A	c.(2878-2880)tcC>tcA	p.S960S	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	960					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAACGGATCCCTGGACCCAG	0.652																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2878-2880)tcC>tcA		immunoglobulin mu binding protein 2							36.0	35.0	35.0					11																	68707097		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68707097C>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2880C>A	11.37:g.68707097C>A							p.S960S	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		15	2991	+			960					A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.2880C>A	CCDS8187.1																																																																																				0.652	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		36	158	1	0	3.86903e-22	1	4.37239e-22	36	158				
GAD1	2571	broad.mit.edu	37	2	171675171	171675171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171675171C>A	ENST00000358196.3	+	2	620	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	AC007405.8_ENST00000451730.1_RNA|GAD1_ENST00000429023.1_3'UTR|AC007405.8_ENST00000455988.1_RNA|AC007405.8_ENST00000418106.1_RNA|GAD1_ENST00000344257.5_Missense_Mutation_p.L24M|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	24					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TACCACTAACCTGCGCCCCAC	0.622																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(70-72)Ctg>Atg		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						69.0	71.0	70.0					2																	171675171		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171675171C>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.70C>A	2.37:g.171675171C>A	ENSP00000350928:p.Leu24Met					GAD1_ENST00000344257.5_Missense_Mutation_p.L24M|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M|GAD1_ENST00000429023.1_3'UTR	p.L24M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			2	620	+			24					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.70C>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850212	0.71719	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	D;D;T;T;T;T;T	0.90504	-1.75;-2.68;2.23;0.35;0.35;-1.38;-1.23	5.67	5.67	0.87782	.	0.183599	0.39083	N	0.001470	D	0.93252	0.7850	L	0.51422	1.61	0.44825	D	0.997839	D;D	0.71674	0.997;0.998	D;D	0.69142	0.942;0.962	D	0.93093	0.6501	10	0.54805	T	0.06	-8.7481	14.9773	0.71283	0.0:0.9299:0.0:0.0701	.	24;24	Q99259;Q99259-3	DCE1_HUMAN;.	M	24	ENSP00000402366:L24M;ENSP00000394948:L24M;ENSP00000350928:L24M;ENSP00000364421:L24M;ENSP00000341167:L24M;ENSP00000405917:L24M;ENSP00000394255:L24M	ENSP00000341167:L24M	L	+	1	2	GAD1	171383417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.625000	0.37029	2.667000	0.90743	0.561000	0.74099	CTG		0.622	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			136	429	1	0	2.13359e-52	1	2.6535e-52	136	429				
OLFM1	10439	broad.mit.edu	37	9	137990133	137990133	+	Splice_Site	SNP	C	C	T	rs367620749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137990133C>T	ENST00000371793.3	+	4	709	c.458C>T	c.(457-459)gCg>gTg	p.A153V	OLFM1_ENST00000371796.3_Splice_Site_p.A126V|OLFM1_ENST00000252854.4_Splice_Site_p.A135V	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	153					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACCTTGCAGGCGATAAAAGCG	0.468																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.e4-1		olfactomedin 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	82.0	78.0	79.0		404	5.1	1.0	9		79	0,8598		0,0,4299	no	missense-near-splice	OLFM1	NM_014279.4	64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	135/468	137990133	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137990133C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.457-1C>T	9.37:g.137990133C>T						OLFM1_ENST00000371793.3_Splice_Site_p.A153_splice|OLFM1_ENST00000371796.3_Splice_Site_p.A126_splice	p.A135_splice	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	4	591	+		Myeloproliferative disorder(178;0.0333)	153					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Splice_Site	SNP	ENST00000371793.3	37	c.402_splice		.	.	.	.	.	.	.	.	.	.	C	16.78	3.216445	0.58452	2.27E-4	0.0	ENSG00000130558	ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877	D;T;D;T;D;D	0.87103	-2.21;1.44;-2.21;0.45;-2.21;-1.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	N	0.19112	0.55	0.80722	D	1	P;B	0.39862	0.692;0.375	B;B	0.36808	0.233;0.104	T	0.81994	-0.0677	10	0.48119	T	0.1	.	18.9219	0.92529	0.0:1.0:0.0:0.0	.	153;135	Q99784;Q6IMJ8	NOE1_HUMAN;.	V	135;142;126;70;153;50	ENSP00000252854:A135V;ENSP00000340318:A142V;ENSP00000360861:A126V;ENSP00000444296:A70V;ENSP00000360858:A153V;ENSP00000443806:A50V	ENSP00000252854:A135V	A	+	2	0	OLFM1	137129954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.695000	0.68279	2.546000	0.85860	0.637000	0.83480	GCG		0.468	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279	Missense_Mutation	25	202	0	0	0	1	0	25	202				
AMHR2	269	broad.mit.edu	37	12	53818959	53818959	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53818959C>A	ENST00000257863.4	+	4	515	c.435C>A	c.(433-435)atC>atA	p.I145I	AMHR2_ENST00000550311.1_Silent_p.I145I|AMHR2_ENST00000379791.3_Silent_p.I145I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	145					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GTGAGTCCATCTGGATGGCAC	0.587																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(433-435)atC>atA		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						171.0	127.0	142.0					12																	53818959		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53818959C>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.435C>A	12.37:g.53818959C>A						AMHR2_ENST00000379791.3_Silent_p.I145I|AMHR2_ENST00000550311.1_Silent_p.I145I	p.I145I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			4	515	+			145					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.435C>A	CCDS8858.1																																																																																				0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		13	438	1	0	0.000151284	1	0.000153739	13	438				
MYO7A	4647	broad.mit.edu	37	11	76909559	76909559	+	Silent	SNP	C	C	T	rs56174006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76909559C>T	ENST00000409709.3	+	34	4733	c.4461C>T	c.(4459-4461)aaC>aaT	p.N1487N	MYO7A_ENST00000458637.2_Silent_p.N1487N|MYO7A_ENST00000409619.2_Silent_p.N1476N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1487	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCCAAGAACGACGTCATCG	0.607													c|||	11	0.00219649	0.0038	0.0043	5008	,	,		20346	0.0		0.002	False		,,,				2504	0.001					ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4459-4461)aaC>aaT		myosin VIIA		T	,	29,4071		0,29,2021	69.0	75.0	73.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4461,4461	-10.1	0.0	11	dbSNP_129	73	51,8311		0,51,4130	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	0,80,6151	TT,TC,CC		0.6099,0.7073,0.642	,	1487/2216,1487/2176	76909559	80,12382	2050	4181	6231	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76909559C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4461C>T	11.37:g.76909559C>T						MYO7A_ENST00000409619.2_Silent_p.N1476N|MYO7A_ENST00000458637.2_Silent_p.N1487N	p.N1487N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			34	4733	+			1487			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.4461C>T	CCDS53683.1																																																																																				0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		42	191	0	0	0	1	0	42	191				
MYO1H	283446	broad.mit.edu	37	12	109843753	109843753	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109843753C>A	ENST00000431443.2	+	7	828	c.828C>A	c.(826-828)gtC>gtA	p.V276V	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000310903.5_Silent_p.V276V	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	276	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTGCCAGTGTCTTACACCTGG	0.483																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(826-828)gtC>gtA		myosin IH							94.0	86.0	88.0					12																	109843753		1910	4126	6036	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109843753C>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.828C>A	12.37:g.109843753C>A						MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Silent_p.V276V	p.V276V			B4DNW6	B4DNW6_HUMAN			8	934	+			0					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.828C>A																																																																																					0.483	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		6	190	1	0	2.0095e-06	1	2.07161e-06	6	190				
AZIN1	51582	broad.mit.edu	37	8	103845355	103845355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103845355G>A	ENST00000337198.5	-	9	1996	c.833C>T	c.(832-834)tCt>tTt	p.S278F	AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	278					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AAATGCAGAAGACACATAGTA	0.338																																						ENST00000337198.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9						c.(832-834)tCt>tTt		antizyme inhibitor 1							84.0	90.0	88.0					8																	103845355		2203	4300	6503	SO:0001583	missense	0				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103845355G>A	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.833C>T	8.37:g.103845355G>A	ENSP00000337180:p.Ser278Phe					AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	p.S278F	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		9	1996	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		278					A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	c.833C>T	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534590	0.45073	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.46063	0.88;0.88	6.06	6.06	0.98353	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.050710	0.85682	D	0.000000	T	0.50939	0.1645	L	0.55743	1.74	0.58432	D	0.999999	B	0.29341	0.242	B	0.39068	0.289	T	0.45527	-0.9255	10	0.56958	D	0.05	-14.8825	20.6208	0.99490	0.0:0.0:1.0:0.0	.	278	O14977	AZIN1_HUMAN	F	278	ENSP00000337180:S278F;ENSP00000321507:S278F	ENSP00000337180:S278F	S	-	2	0	AZIN1	103914531	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	7.647000	0.83462	2.882000	0.98803	0.655000	0.94253	TCT		0.338	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			58	287	0	0	0	1	0	58	287				
NCEH1	57552	broad.mit.edu	37	3	172351691	172351691	+	Silent	SNP	G	G	A	rs375246483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172351691G>A	ENST00000475381.1	-	5	1034	c.801C>T	c.(799-801)atC>atT	p.I267I	NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I|NCEH1_ENST00000273512.3_Silent_p.I299I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	267					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATTGTTAACGATCATTGCCT	0.478																																						ENST00000475381.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(799-801)atC>atT		neutral cholesterol ester hydrolase 1							117.0	110.0	113.0					3																	172351691		2203	4300	6503	SO:0001819	synonymous_variant	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172351691G>A	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.801C>T	3.37:g.172351691G>A						NCEH1_ENST00000273512.3_Silent_p.I299I|NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I	p.I267I			Q6PIU2	NCEH1_HUMAN			5	1034	-			267					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	ENST00000475381.1	37	c.801C>T		.	.	.	.	.	.	.	.	.	.	G	0.019	-1.457690	0.01071	.	.	ENSG00000144959	ENST00000424772	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.30940	N	0.725957	.	.	.	.	.	.	T	0.15093	-1.0449	4	.	.	.	-6.8028	4.8734	0.13644	0.2386:0.2399:0.4538:0.0677	.	.	.	.	L	298	.	.	S	-	2	0	NCEH1	173834385	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.984000	0.01487	-4.969000	0.00025	-2.032000	0.00423	TCG		0.478	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		17	317	0	0	0	1	0	17	317				
ZNF696	79943	broad.mit.edu	37	8	144378799	144378799	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144378799G>T	ENST00000330143.3	+	3	1363	c.954G>T	c.(952-954)gaG>gaT	p.E318D		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACACCGGGGAGAAGCCCCACC	0.736																																						ENST00000330143.3																			0				lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8						c.(952-954)gaG>gaT		zinc finger protein 696							6.0	8.0	7.0					8																	144378799		1992	3926	5918	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378799G>T	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.954G>T	8.37:g.144378799G>T	ENSP00000328515:p.Glu318Asp						p.E318D	NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	1363	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		318					A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.954G>T	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811648	0.70797	.	.	ENSG00000185730	ENST00000330143	T	0.26810	1.71	2.97	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	L	0.46947	1.48	0.80722	D	1	P	0.35807	0.522	B	0.40199	0.322	T	0.03662	-1.1015	8	.	.	.	.	7.6192	0.28175	0.141:0.0:0.859:0.0	.	318	Q9H7X3	ZN696_HUMAN	D	318	ENSP00000328515:E318D	.	E	+	3	2	ZNF696	144450174	0.998000	0.40836	0.990000	0.47175	0.638000	0.38207	3.013000	0.49582	1.661000	0.50771	0.551000	0.68910	GAG		0.736	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		16	71	1	0	2.32078e-09	1	2.442e-09	16	71				
DMTF1	9988	broad.mit.edu	37	7	86794362	86794362	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86794362G>T	ENST00000394703.5	+	5	668	c.105G>T	c.(103-105)caG>caT	p.Q35H	DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	35	Interaction with CCND2. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACTGCCCTCAGAATGGTAGGA	0.438																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(103-105)caG>caT		cyclin D binding myb-like transcription factor 1							74.0	58.0	64.0					7																	86794362		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86794362G>T	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.105G>T	7.37:g.86794362G>T	ENSP00000378193:p.Gln35His					DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H	p.Q35H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			5	668	+	Esophageal squamous(14;0.0058)		35			Interaction with CCND2 (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.105G>T	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991491	0.74703	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000446796;ENST00000425406;ENST00000411766;ENST00000414630;ENST00000453049;ENST00000448598;ENST00000449088;ENST00000430405;ENST00000394703;ENST00000434534;ENST00000423590;ENST00000432366;ENST00000412139;ENST00000425705	T;T;T	0.51817	0.69;0.8;0.69	5.29	4.4	0.53042	.	0.224659	0.46145	N	0.000314	T	0.48892	0.1525	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.51220	-0.8733	10	0.62326	D	0.03	-2.0242	5.0045	0.14280	0.1599:0.0:0.6568:0.1833	.	35	Q9Y222	DMTF1_HUMAN	H	35	ENSP00000332171:Q35H;ENSP00000402627:Q35H;ENSP00000378193:Q35H	ENSP00000332171:Q35H	Q	+	3	2	DMTF1	86632298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.779000	0.38624	1.354000	0.45846	0.655000	0.94253	CAG		0.438	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		36	112	1	0	1.04594e-18	1	1.16214e-18	36	112				
F13B	2165	broad.mit.edu	37	1	197032070	197032070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197032070G>A	ENST00000367412.1	-	2	225	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	61	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGTATAACCAGCCAAGCAGAA	0.398																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(181-183)gCt>gTt		coagulation factor XIII, B polypeptide							148.0	157.0	154.0					1																	197032070		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197032070G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.182C>T	1.37:g.197032070G>A	ENSP00000356382:p.Ala61Val						p.A61V	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			2	225	-			61			Sushi 1.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.182C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080272	0.55753	.	.	ENSG00000143278	ENST00000367412	T	0.65732	-0.17	5.58	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (2);	0.256433	0.20618	N	0.088835	T	0.56232	0.1971	L	0.52364	1.645	0.47862	D	0.999535	B	0.26400	0.148	B	0.31614	0.133	T	0.49854	-0.8895	10	0.18710	T	0.47	.	12.4304	0.55571	0.1397:0.0:0.8603:0.0	.	61	P05160	F13B_HUMAN	V	61	ENSP00000356382:A61V	ENSP00000356382:A61V	A	-	2	0	F13B	195298693	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.868000	0.48436	1.363000	0.46019	0.655000	0.94253	GCT		0.398	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		92	840	0	0	0	1	0	92	840				
ZNF831	128611	broad.mit.edu	37	20	57829317	57829317	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829317A>G	ENST00000371030.2	+	5	4553	c.4553A>G	c.(4552-4554)cAg>cGg	p.Q1518R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1518							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCACAGCCAGACTGCAGGG	0.527																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(4552-4554)cAg>cGg		zinc finger protein 831							42.0	46.0	45.0					20																	57829317		2116	4244	6360	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829317A>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4553A>G	20.37:g.57829317A>G	ENSP00000360069:p.Gln1518Arg						p.Q1518R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			5	4553	+	all_lung(29;0.0085)		1518					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4553A>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	1.075	-0.668825	0.03403	.	.	ENSG00000124203	ENST00000371030	T	0.04083	3.71	4.61	-3.4	0.04853	.	2.591440	0.01282	N	0.009769	T	0.02418	0.0074	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33497	-0.9866	10	0.05351	T	0.99	1.5943	1.4386	0.02349	0.4465:0.1546:0.258:0.1409	.	1518	Q5JPB2	ZN831_HUMAN	R	1518	ENSP00000360069:Q1518R	ENSP00000360069:Q1518R	Q	+	2	0	ZNF831	57262712	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.233000	0.09041	-0.261000	0.09405	-0.248000	0.11899	CAG		0.527	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		36	179	0	0	0	1	0	36	179				
CYP4F24P	388514	broad.mit.edu	37	19	15884913	15884913	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15884913G>A								LLNLR-249E10.1 (3275 upstream) : OR10H5 (19847 downstream)																							CTTTATATAGGGTTTCAGGAT	0.547																																						ENST00000587443.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:15884913G>A																													19.37:g.15884913G>A								NR_033864.1						0	416	-									RNA	SNP		37			.	.	.	.	.	.	.	.	.	.	.	10.11	1.261478	0.23051	.	.	ENSG00000225607	ENST00000412610	.	.	.	1.8	1.8	0.24995	.	.	.	.	.	T	0.64713	0.2623	.	.	.	.	.	.	D	0.58970	0.984	D	0.68192	0.956	T	0.69296	-0.5182	6	0.87932	D	0	.	5.49	0.16771	0.0:0.0:0.6711:0.3289	.	50	B4DNA9	.	L	50	.	ENSP00000389636:P50L	P	-	2	0	AC011537.1	15745913	0.132000	0.22450	0.224000	0.23877	0.024000	0.10985	0.631000	0.24568	1.302000	0.44855	0.514000	0.50259	CCC	0	0.547									26	153	0	0	0	1	0	26	153				
TRPA1	8989	broad.mit.edu	37	8	72950237	72950237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72950237G>A	ENST00000262209.4	-	20	2573	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	789					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.A789V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTTGCCCCGCTTCTTTGCA	0.274																																						ENST00000262209.4																			1	Substitution - Missense(1)	p.A789V(1)	stomach(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2365-2367)gCg>gTg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						34.0	36.0	35.0					8																	72950237		2196	4279	6475	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72950237G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2366C>T	8.37:g.72950237G>A	ENSP00000262209:p.Ala789Val					RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	p.A789V	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		20	2573	-			789					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2366C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	0.257	-1.002122	0.02128	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77358	-1.09;-1.09	5.58	4.36	0.52297	Ion transport (1);	0.669343	0.15878	N	0.240178	T	0.42314	0.1197	N	0.00656	-1.285	0.26743	N	0.970347	B	0.06786	0.001	B	0.04013	0.001	T	0.36720	-0.9736	10	0.06891	T	0.86	-11.0883	7.9719	0.30132	0.8368:0.0:0.1632:0.0	.	789	O75762	TRPA1_HUMAN	V	641;789	ENSP00000428151:A641V;ENSP00000262209:A789V	ENSP00000262209:A789V	A	-	2	0	TRPA1	73112791	0.855000	0.29742	0.961000	0.40146	0.539000	0.34962	3.072000	0.50049	0.938000	0.37419	-0.290000	0.09829	GCG		0.274	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	72	0	0	0	1	0	7	72				
ZNF543	125919	broad.mit.edu	37	19	57839196	57839196	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57839196G>T	ENST00000321545.4	+	4	711	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCAATCCAAGGATCAGGATG	0.507																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(364-366)aaG>aaT		zinc finger protein 543							62.0	65.0	64.0					19																	57839196		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839196G>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.366G>T	19.37:g.57839196G>T	ENSP00000322545:p.Lys122Asn						p.K122N	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	711	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	122					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.366G>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217578	0.06101	.	.	ENSG00000178229	ENST00000321545	T	0.27890	1.64	2.87	0.42	0.16444	.	.	.	.	.	T	0.18509	0.0444	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23547	-1.0185	9	0.27082	T	0.32	.	5.6372	0.17544	0.1319:0.2037:0.6644:0.0	.	122	Q08ER8	ZN543_HUMAN	N	122	ENSP00000322545:K122N	ENSP00000322545:K122N	K	+	3	2	ZNF543	62531008	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	0.122000	0.15687	0.544000	0.28883	0.555000	0.69702	AAG		0.507	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		53	232	1	0	2.9001e-28	1	3.37151e-28	53	232				
LRP1	4035	broad.mit.edu	37	12	57598459	57598459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57598459C>T	ENST00000243077.3	+	72	11587	c.11121C>T	c.(11119-11121)cgC>cgT	p.R3707R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3707	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGAATGACCGCGTCTGTCTGT	0.632																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11119-11121)cgC>cgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						88.0	88.0	88.0					12																	57598459		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598459C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11121C>T	12.37:g.57598459C>T							p.R3707R	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	72	11587	+			3707			LDL-receptor class A 30.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.11121C>T	CCDS8932.1																																																																																				0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		11	618	0	0	0	1	0	11	618				
MZF1	7593	broad.mit.edu	37	19	59073457	59073457	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59073457G>A	ENST00000215057.2	-	6	2747	c.2187C>T	c.(2185-2187)cgC>cgT	p.R729R	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Silent_p.R729R|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	729					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCTGTGGACGCGCTGGTGCT	0.617																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(2185-2187)cgC>cgT		myeloid zinc finger 1							33.0	29.0	30.0					19																	59073457		2179	4278	6457	SO:0001819	synonymous_variant	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59073457G>A	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2187C>T	19.37:g.59073457G>A						MZF1_ENST00000599369.1_Silent_p.R729R|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA	p.R729R	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	2747	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	729					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	c.2187C>T	CCDS12988.1																																																																																				0.617	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		13	27	0	0	0	1	0	13	27				
OR5R1	219479	broad.mit.edu	37	11	56185131	56185131	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56185131T>G	ENST00000312253.1	-	1	577	c.578A>C	c.(577-579)cAc>cCc	p.H193P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTCCTTCATGTGTGTGTCTGA	0.423																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(577-579)cAc>cCc		olfactory receptor, family 5, subfamily R, member 1							99.0	84.0	89.0					11																	56185131		2201	4295	6496	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185131T>G	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.578A>C	11.37:g.56185131T>G	ENSP00000308595:p.His193Pro						p.H193P	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	577	-	Esophageal squamous(21;0.00448)		193						Missense_Mutation	SNP	ENST00000312253.1	37	c.578A>C	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.823943	0.50739	.	.	ENSG00000174942	ENST00000312253	T	0.00123	8.7	5.72	0.771	0.18504	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.63843	1.955	0.09310	N	1	P	0.50272	0.933	P	0.53313	0.723	T	0.46938	-0.9155	9	0.66056	D	0.02	-5.8915	9.1469	0.36939	0.0:0.403:0.0:0.597	.	193	Q8NH85	OR5R1_HUMAN	P	193	ENSP00000308595:H193P	ENSP00000308595:H193P	H	-	2	0	OR5R1	55941707	0.000000	0.05858	0.021000	0.16686	0.985000	0.73830	-1.065000	0.03458	0.096000	0.17463	0.472000	0.43445	CAC		0.423	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		79	266	0	0	0	1	0	79	266				
SPATA31D5P	347127	broad.mit.edu	37	9	84528550	84528550	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84528550G>A	ENST00000527857.1	+	0	199					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TCAACCCTTGGGAAAAATAAT	0.393																																						ENST00000527857.1																			0																																																			0							g.chr9:84528550G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84528550G>A								NR_026851.1						0	199	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.393	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		3	12	0	0	0	1	0	3	12				
DENND4B	9909	broad.mit.edu	37	1	153909116	153909116	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153909116C>T	ENST00000361217.4	-	16	2759	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	781					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCACATAGGCAGGCAGACAC	0.637																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2341-2343)Gcc>Acc		DENN/MADD domain containing 4B							44.0	48.0	47.0					1																	153909116		2130	4229	6359	SO:0001583	missense	9909							g.chr1:153909116C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2341G>A	1.37:g.153909116C>T	ENSP00000354597:p.Ala781Thr						p.A781T	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2759	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		781					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2341G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.551604	0.45487	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07021	3.24;3.23	4.77	4.77	0.60923	.	0.060224	0.64402	D	0.000002	T	0.01870	0.0059	N	0.13299	0.325	0.37388	D	0.912324	B	0.17852	0.024	B	0.11329	0.006	T	0.40608	-0.9554	10	0.38643	T	0.18	-17.5058	7.0873	0.25264	0.0:0.8157:0.0:0.1843	.	781	O75064	DEN4B_HUMAN	T	781;792	ENSP00000354597:A781T;ENSP00000357635:A792T	ENSP00000354597:A781T	A	-	1	0	DENND4B	152175740	0.181000	0.23161	0.905000	0.35620	0.600000	0.36913	0.651000	0.24873	2.463000	0.83235	0.462000	0.41574	GCC		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		64	129	0	0	0	1	0	64	129				
MAP3K2	10746	broad.mit.edu	37	2	128065219	128065219	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128065219A>G	ENST00000409947.1	-	17	2078	c.1796T>C	c.(1795-1797)gTa>gCa	p.V599A	MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TTTGGCCTCTACAAAAATCCG	0.473																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1795-1797)gTa>gCa		mitogen-activated protein kinase kinase kinase 2							60.0	62.0	62.0					2																	128065219		2035	4203	6238	SO:0001583	missense	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128065219A>G	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1796T>C	2.37:g.128065219A>G	ENSP00000387246:p.Val599Ala					MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A	p.V599A			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	17	2078	-	Colorectal(110;0.1)		599			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	c.1796T>C	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683960	0.47991	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.63744	-0.06;-0.06	5.7	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106321	0.64402	D	0.000006	T	0.49745	0.1575	L	0.42008	1.315	0.39428	D	0.967031	B	0.15473	0.013	B	0.16722	0.016	T	0.40590	-0.9555	10	0.13108	T	0.6	.	9.7683	0.40574	0.8608:0.0:0.1392:0.0	.	599	Q9Y2U5	M3K2_HUMAN	A	599	ENSP00000387246:V599A;ENSP00000343463:V599A	ENSP00000343463:V599A	V	-	2	0	MAP3K2	127781689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.321000	0.65846	1.091000	0.41335	0.528000	0.53228	GTA		0.473	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		11	41	0	0	0	1	0	11	41				
TTN	7273	broad.mit.edu	37	2	179481272	179481272	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481272A>C	ENST00000591111.1	-	207	43547	c.43323T>G	c.(43321-43323)gaT>gaG	p.D14441E	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D16082E|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14441	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GACTTCCTCCATCATCATCAG	0.423																																						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.(48244-48246)gaT>gaG		titin							164.0	154.0	157.0					2																	179481272		1927	4127	6054	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481272A>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.43323T>G	2.37:g.179481272A>C	ENSP00000465570:p.Asp14441Glu					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14441E	p.D16082E	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)		257	48470	-			14441			Ig-like 99.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.48246T>G		.	.	.	.	.	.	.	.	.	.	A	11.31	1.601281	0.28534	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.91	4.75	0.60458	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69178	0.3082	M	0.86343	2.81	0.42975	D	0.99444	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.55011	0.766;0.766;0.766;0.766	T	0.75016	-0.3466	9	0.87932	D	0	.	11.6649	0.51368	0.9305:0.0:0.0695:0.0	.	7017;7142;7209;14441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13514;7017;7209;7142;7017	ENSP00000343764:D13514E;ENSP00000434586:D7017E;ENSP00000340554:D7209E;ENSP00000352154:D7142E	ENSP00000340554:D7209E	D	-	3	2	TTN	179189517	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.093000	0.50217	1.061000	0.40601	-0.256000	0.11100	GAT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		149	453	0	0	0	1	0	149	453				
CHAF1A	10036	broad.mit.edu	37	19	4433183	4433183	+	Missense_Mutation	SNP	C	C	T	rs529604161	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4433183C>T	ENST00000301280.5	+	13	2421	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	774	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGCCCGCGGAGCCCCTC	0.662								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2320-2322)Cgg>Tgg	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							43.0	49.0	47.0					19																	4433183		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433183C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2320C>T	19.37:g.4433183C>T	ENSP00000301280:p.Arg774Trp					CHAF1A_ENST00000587368.1_3'UTR	p.R774W	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2421	+		Hepatocellular(1079;0.137)	774			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2320C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728653	0.15507	.	.	ENSG00000167670	ENST00000301280	T	0.30714	1.52	5.33	1.88	0.25563	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	B	0.35413	0.202	T	0.08391	-1.0724	8	.	.	.	-4.6503	9.9541	0.41655	0.1352:0.5331:0.3317:0.0	.	774	Q13111	CAF1A_HUMAN	W	774	ENSP00000301280:R774W	.	R	+	1	2	CHAF1A	4384183	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	0.106000	0.15354	1.223000	0.43536	0.655000	0.94253	CGG		0.662	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		109	401	0	0	0	1	0	109	401				
PLOD1	5351	broad.mit.edu	37	1	12032953	12032953	+	Missense_Mutation	SNP	G	G	A	rs149425237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12032953G>A	ENST00000196061.4	+	18	1954	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	643	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCTTTGTCGTCCGCTACAA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18483	0.0		0.001	False		,,,				2504	0.0					ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1927-1929)Gtc>Atc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	146.0	116.0	126.0		1927	5.4	0.9	1	dbSNP_134	126	10,8590	7.7+/-29.5	0,10,4290	yes	missense	PLOD1	NM_000302.3	29	0,13,6490	AA,AG,GG		0.1163,0.0681,0.1	probably-damaging	643/728	12032953	13,12993	2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12032953G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1927G>A	1.37:g.12032953G>A	ENSP00000196061:p.Val643Ile					PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	p.V643I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	18	1954	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	643			Fe2OG dioxygenase.		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1927G>A	CCDS142.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.292109	0.95546	6.81E-4	0.001163	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.76448	-1.02;-1.02	5.39	5.39	0.77823	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.91341	0.5097	10	0.87932	D	0	.	18.2058	0.89854	0.0:0.0:1.0:0.0	.	690;643	B4DR87;Q02809	.;PLOD1_HUMAN	I	307;690;643	ENSP00000365548:V690I;ENSP00000196061:V643I	ENSP00000196061:V643I	V	+	1	0	PLOD1	11955540	1.000000	0.71417	0.948000	0.38648	0.973000	0.67179	9.854000	0.99522	2.552000	0.86080	0.549000	0.68633	GTC		0.577	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		38	351	0	0	0	1	0	38	351				
GPI	2821	broad.mit.edu	37	19	34884918	34884918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34884918G>A	ENST00000356487.5	+	12	1250	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	GPI_ENST00000586425.1_Missense_Mutation_p.A337T|GPI_ENST00000415930.3_Missense_Mutation_p.A348T	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	337					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGAGACACACGCCATGCTGCC	0.602																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1042-1044)Gcc>Acc		glucose-6-phosphate isomerase							103.0	92.0	95.0					19																	34884918		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884918G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1009G>A	19.37:g.34884918G>A	ENSP00000348877:p.Ala337Thr					GPI_ENST00000586425.1_Missense_Mutation_p.A337T|GPI_ENST00000356487.5_Missense_Mutation_p.A337T	p.A348T	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			12	1212	+	Esophageal squamous(110;0.162)		337					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1042G>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681633	0.68042	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94687	-3.49;-3.49	5.48	4.45	0.53987	.	0.154506	0.56097	D	0.000022	D	0.97031	0.9030	M	0.87547	2.89	0.80722	D	1	P;D;P;D	0.60160	0.944;0.987;0.944;0.972	P;P;P;B	0.61874	0.499;0.895;0.499;0.44	D	0.97544	1.0088	10	0.87932	D	0	-10.4711	14.2882	0.66258	0.0717:0.0:0.9283:0.0	.	309;348;310;337	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	T	348;337	ENSP00000405573:A348T;ENSP00000348877:A337T	ENSP00000348877:A337T	A	+	1	0	GPI	39576758	1.000000	0.71417	0.077000	0.20336	0.030000	0.12068	7.635000	0.83286	1.327000	0.45338	-0.145000	0.13849	GCC		0.602	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			20	514	0	0	0	1	0	20	514				
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139297773G>A	ENST00000296202.7	-	4	615	c.234C>T	c.(232-234)atC>atT	p.I78I	NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000512391.1_Silent_p.I78I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000406164.1_Silent_p.I41I|NMNAT3_ENST00000406824.1_5'UTR			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	78					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587																																						ENST00000406164.1																			1	Substitution - coding silent(1)	p.I41I(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						c.(121-123)atC>atT		nicotinamide nucleotide adenylyltransferase 3							119.0	99.0	106.0					3																	139297773		2203	4300	6503	SO:0001819	synonymous_variant	349565				water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr3:139297773G>A	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.234C>T	3.37:g.139297773G>A						NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000296202.7_Silent_p.I78I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000512391.1_Silent_p.I78I|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000406824.1_5'UTR	p.I41I			Q96T66	NMNA3_HUMAN			4	686	-			78					B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Silent	SNP	ENST00000296202.7	37	c.123C>T																																																																																					0.587	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		38	217	0	0	0	1	0	38	217				
DVL1	1855	broad.mit.edu	37	1	1275821	1275821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275821C>T	ENST00000378888.5	-	6	952	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	223	Poly-Arg.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGCTTCCTCCGCCGGCGTTT	0.667																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(667-669)cGg>cAg		dishevelled segment polarity protein 1							33.0	40.0	38.0					1																	1275821		2195	4294	6489	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275821C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.668G>A	1.37:g.1275821C>T	ENSP00000368166:p.Arg223Gln					DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q	p.R223Q			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	6	952	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	223			Poly-Arg.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.668G>A		.	.	.	.	.	.	.	.	.	.	C	18.61	3.661443	0.67700	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.06687	3.33;3.27	3.79	3.79	0.43588	.	0.064020	0.64402	D	0.000008	T	0.27419	0.0673	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.04522	-1.0945	10	0.54805	T	0.06	.	16.225	0.82285	0.0:1.0:0.0:0.0	.	223	O14640-2	.	Q	223	ENSP00000368169:R223Q;ENSP00000368166:R223Q	ENSP00000368166:R223Q	R	-	2	0	DVL1	1265684	1.000000	0.71417	0.955000	0.39395	0.616000	0.37450	7.146000	0.77373	2.127000	0.65507	0.306000	0.20318	CGG		0.667	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		9	105	0	0	0	1	0	9	105				
CMSS1	84319	broad.mit.edu	37	3	99886649	99886649	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99886649C>T	ENST00000421999.2	+	6	629	c.483C>T	c.(481-483)atC>atT	p.I161I	CMSS1_ENST00000489081.1_Silent_p.I143I	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	161							poly(A) RNA binding (GO:0044822)										TGCTGATCATCTGCAGCTCGG	0.403																																						ENST00000421999.2																			0											c.(481-483)atC>atT		cms1 ribosomal small subunit homolog (yeast)							154.0	160.0	158.0					3																	99886649		2203	4300	6503	SO:0001819	synonymous_variant	84319							g.chr3:99886649C>T		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.483C>T	3.37:g.99886649C>T						CMSS1_ENST00000489081.1_Silent_p.I143I	p.I161I	NM_032359.3	NP_115735.2					6	629	+								A8K5S7|B4DUM1|E9PHS3	Silent	SNP	ENST00000421999.2	37	c.483C>T	CCDS2935.1																																																																																				0.403	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		15	401	0	0	0	1	0	15	401				
ETV7	51513	broad.mit.edu	37	6	36353333	36353333	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36353333G>T	ENST00000340181.4	-	2	361	c.120C>A	c.(118-120)atC>atA	p.I40I	ETV7_ENST00000373738.1_Silent_p.I40I|ETV7_ENST00000373737.4_Silent_p.I40I|ETV7_ENST00000538992.1_Intron|RP1-50J22.4_ENST00000411643.1_RNA|ETV7_ENST00000339796.5_Silent_p.I40I	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	40	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCAGCTTGCAGATCCCCCCTT	0.478																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(118-120)atC>atA		ets variant 7							99.0	102.0	101.0					6																	36353333		2203	4300	6503	SO:0001819	synonymous_variant	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36353333G>T	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.120C>A	6.37:g.36353333G>T						ETV7_ENST00000373737.4_Silent_p.I40I|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Silent_p.I40I|ETV7_ENST00000340181.4_Silent_p.I40I	p.I40I	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN			2	965	-			40			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	c.120C>A	CCDS4819.1																																																																																				0.478	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		11	603	1	0	1.61879e-10	1	1.71755e-10	11	603				
GPAM	57678	broad.mit.edu	37	10	113928664	113928664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113928664C>T	ENST00000348367.4	-	10	1038	c.841G>A	c.(841-843)Gat>Aat	p.D281N	GPAM_ENST00000423155.1_Missense_Mutation_p.D281N|GPAM_ENST00000369425.1_Missense_Mutation_p.D281N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	281					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGTGTTTCATCGAGCCTTCGT	0.373																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(841-843)Gat>Aat		glycerol-3-phosphate acyltransferase, mitochondrial							133.0	126.0	128.0					10																	113928664		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113928664C>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.841G>A	10.37:g.113928664C>T	ENSP00000265276:p.Asp281Asn					GPAM_ENST00000423155.1_Missense_Mutation_p.D281N|GPAM_ENST00000369425.1_Missense_Mutation_p.D281N	p.D281N			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	10	1038	-			281					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.841G>A	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640772	0.67244	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93133	-3.17;-3.17;-3.17	5.58	5.58	0.84498	Phospholipid/glycerol acyltransferase (2);	0.050745	0.85682	D	0.000000	D	0.93184	0.7829	L	0.31065	0.9	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.60682	0.878;0.83	D	0.92607	0.6096	10	0.40728	T	0.16	-26.5966	14.7486	0.69508	0.0:0.9287:0.0:0.0713	.	281;281	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	N	281	ENSP00000265276:D281N;ENSP00000409242:D281N;ENSP00000358433:D281N	ENSP00000265276:D281N	D	-	1	0	GPAM	113918654	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	5.084000	0.64462	2.620000	0.88729	0.643000	0.83706	GAT		0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		67	329	0	0	0	1	0	67	329				
VPS26B	112936	broad.mit.edu	37	11	134113076	134113076	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134113076G>A	ENST00000281187.5	+	4	1087	c.609G>A	c.(607-609)aaG>aaA	p.K203K	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.K203K	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	203					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCAAAATCAAGCACATGGAGA	0.453																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(607-609)aaG>aaA		vacuolar protein sorting 26 homolog B (S. pombe)							146.0	124.0	132.0					11																	134113076		2201	4297	6498	SO:0001819	synonymous_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134113076G>A		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.609G>A	11.37:g.134113076G>A						VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.K203K	p.K203K	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	4	1087	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	203					Q96A55	Silent	SNP	ENST00000281187.5	37	c.609G>A	CCDS8495.1																																																																																				0.453	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		51	304	0	0	0	1	0	51	304				
ASCC1	51008	broad.mit.edu	37	10	73921319	73921319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73921319C>T	ENST00000342444.4	-	7	788	c.687G>A	c.(685-687)caG>caA	p.Q229Q	ASCC1_ENST00000317168.6_Silent_p.Q201Q|ASCC1_ENST00000394919.1_Silent_p.Q201Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000317126.4_Silent_p.Q201Q	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						CTTTACACTGCTGTAGCATCT	0.428																																						ENST00000342444.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						c.(685-687)caG>caA		activating signal cointegrator 1 complex subunit 1							153.0	140.0	144.0					10																	73921319		2203	4300	6503	SO:0001819	synonymous_variant	51008				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding	g.chr10:73921319C>T	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.687G>A	10.37:g.73921319C>T						ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000317126.4_Silent_p.Q201Q|ASCC1_ENST00000394919.1_Silent_p.Q201Q|ASCC1_ENST00000317168.6_Silent_p.Q201Q	p.Q229Q	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN			7	788	-			229					Q5SW06|Q5SW07|Q96EI8|Q9Y307	Silent	SNP	ENST00000342444.4	37	c.687G>A	CCDS55713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.008|9.008	0.981892|0.981892	0.18812|0.18812	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000486689|ENST00000525286	.|.	.|.	.|.	5.6|5.6	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.59266|0.59266	0.2181|0.2181	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56559|0.56559	-0.7959|-0.7959	4|4	.|.	.|.	.|.	.|.	9.1805|9.1805	0.37138|0.37138	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	.|.	.|.	.|.	T|N	133|98	.|.	.|.	A|S	-|-	1|2	0|0	ASCC1|ASCC1	73591325|73591325	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.962000|0.962000	0.63368|0.63368	2.272000|2.272000	0.43373|0.43373	1.347000|1.347000	0.45714|0.45714	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.428	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947		32	466	0	0	0	1	0	32	466				
ZNF592	9640	broad.mit.edu	37	15	85326844	85326844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85326844G>T	ENST00000560079.2	+	4	1226	c.938G>T	c.(937-939)gGg>gTg	p.G313V	ZNF592_ENST00000299927.3_Missense_Mutation_p.G313V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	313					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATCTCTCAGGGCCCACTAAA	0.537																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(937-939)gGg>gTg		zinc finger protein 592							61.0	69.0	67.0					15																	85326844		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326844G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.938G>T	15.37:g.85326844G>T	ENSP00000452877:p.Gly313Val					ZNF592_ENST00000560079.2_Missense_Mutation_p.G313V	p.G313V			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	960	+			313					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.938G>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023302	0.19433	.	.	ENSG00000166716	ENST00000299927	T	0.00608	6.25	5.65	3.78	0.43462	.	0.236852	0.42682	D	0.000680	T	0.00412	0.0013	N	0.12182	0.205	0.53688	D	0.999975	P	0.42518	0.782	B	0.36378	0.223	D	0.85856	0.1407	10	0.37606	T	0.19	-30.6874	9.883	0.41245	0.1648:0.0:0.8352:0.0	.	313	Q92610	ZN592_HUMAN	V	313	ENSP00000299927:G313V	ENSP00000299927:G313V	G	+	2	0	ZNF592	83127848	0.731000	0.28111	1.000000	0.80357	0.942000	0.58702	1.042000	0.30303	1.393000	0.46605	0.655000	0.94253	GGG		0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		88	430	1	0	3.99893e-49	1	4.94408e-49	88	430				
EPB41L2	2037	broad.mit.edu	37	6	131276458	131276458	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131276458C>T	ENST00000337057.3	-	3	674		c.e3-1		EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000392427.3_Splice_Site|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000445890.2_Splice_Site	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTCAGTAGGCTGTTGAGGAA	0.358																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.e3-1		erythrocyte membrane protein band 4.1-like 2							134.0	133.0	133.0					6																	131276458		2203	4300	6503	SO:0001630	splice_region_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131276458C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.493-1G>A	6.37:g.131276458C>T						EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000445890.2_Splice_Site|EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000392427.3_Splice_Site		NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	3	674	-	Breast(56;0.0639)							B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Splice_Site	SNP	ENST00000337057.3	37		CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951311	0.73787	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5197	0.95180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L2	131318151	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	5.014000	0.64029	2.713000	0.92767	0.655000	0.94253	.		0.358	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		Intron	91	501	0	0	0	1	0	91	501				
ATXN7	6314	broad.mit.edu	37	3	63981390	63981390	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981390C>T	ENST00000295900.6	+	12	2442	c.1892C>T	c.(1891-1893)gCt>gTt	p.A631V	ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000398590.3_Missense_Mutation_p.A631V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	631					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CAGCCTGCTGCTTCAGGGGCG	0.542																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1891-1893)gCt>gTt		ataxin 7							170.0	178.0	175.0					3																	63981390		2180	4273	6453	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981390C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1892C>T	3.37:g.63981390C>T	ENSP00000295900:p.Ala631Val					ATXN7_ENST00000295900.6_Missense_Mutation_p.A631V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V	p.A631V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2445	+		Prostate(884;0.0181)	631					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1892C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167233	0.21621	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.16	2.8	0.32819	.	0.627928	0.16530	N	0.210399	T	0.13200	0.0320	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.22730	-1.0208	10	0.42905	T	0.14	4.3154	6.6831	0.23131	0.0:0.5747:0.2973:0.1279	.	486;631;631	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	V	631;631;631;631;486	ENSP00000381590:A631V;ENSP00000295900:A631V;ENSP00000420234:A631V;ENSP00000439585:A631V;ENSP00000428277:A486V	ENSP00000295900:A631V	A	+	2	0	ATXN7	63956430	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	1.181000	0.32017	0.304000	0.22809	0.650000	0.86243	GCT		0.542	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		131	523	0	0	0	1	0	131	523				
PRICKLE2	166336	broad.mit.edu	37	3	64138976	64138976	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64138976G>A	ENST00000295902.6	-	6	1254	c.669C>T	c.(667-669)ttC>ttT	p.F223F	PRICKLE2_ENST00000564377.1_Silent_p.F279F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	223	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTCACACTCGAAGCAGCAAA	0.512																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(667-669)ttC>ttT		prickle homolog 2 (Drosophila)							161.0	142.0	149.0					3																	64138976		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64138976G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.669C>T	3.37:g.64138976G>A						PRICKLE2_ENST00000564377.1_Silent_p.F279F	p.F223F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	6	1254	-		Lung NSC(201;0.136)	223			LIM zinc-binding 2.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.669C>T	CCDS2902.1																																																																																				0.512	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		121	535	0	0	0	1	0	121	535				
FKBP8	23770	broad.mit.edu	37	19	18648447	18648447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18648447C>T	ENST00000596558.2	-	6	1015	c.906G>A	c.(904-906)caG>caA	p.Q302Q	FKBP8_ENST00000222308.4_Silent_p.Q302Q|FKBP8_ENST00000610101.1_Silent_p.Q143Q|FKBP8_ENST00000453489.2_Silent_p.Q331Q|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000597960.3_Silent_p.Q303Q|FKBP8_ENST00000608443.1_Silent_p.Q303Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	302					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGTTGTCTGGCTGGTGCTCCA	0.637																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(907-909)caG>caA		FK506 binding protein 8, 38kDa							62.0	50.0	54.0					19																	18648447		2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648447C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.906G>A	19.37:g.18648447C>T						FKBP8_ENST00000544835.2_Silent_p.Q143Q|FKBP8_ENST00000596558.1_Silent_p.Q302Q|FKBP8_ENST00000222308.3_Silent_p.Q303Q|FKBP8_ENST00000453489.2_Silent_p.Q331Q	p.Q303Q			Q14318	FKBP8_HUMAN			6	1029	-			302					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.909G>A																																																																																					0.637	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		20	227	0	0	0	1	0	20	227				
TENM3	55714	broad.mit.edu	37	4	183721417	183721417	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183721417C>T	ENST00000511685.1	+	28	8136	c.8013C>T	c.(8011-8013)taC>taT	p.Y2671Y	TENM3_ENST00000406950.2_Silent_p.Y2671Y			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2671					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACGGGTACTACGTACTCTCGG	0.701																																						ENST00000511685.1																			0											c.(8011-8013)taC>taT		teneurin transmembrane protein 3							10.0	11.0	11.0					4																	183721417		2041	4117	6158	SO:0001819	synonymous_variant	55714							g.chr4:183721417C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.8013C>T	4.37:g.183721417C>T						TENM3_ENST00000406950.2_Silent_p.Y2671Y	p.Y2671Y							28	8136	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.8013C>T	CCDS47165.1																																																																																				0.701	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	86	0	0	0	1	0	5	86				
HAS1	3036	broad.mit.edu	37	19	52216735	52216735	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52216735A>G	ENST00000222115.1	-	5	1716	c.1682T>C	c.(1681-1683)gTg>gCg	p.V561A	HAS1_ENST00000601714.1_Missense_Mutation_p.V568A|HAS1_ENST00000540069.2_Missense_Mutation_p.V560A	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	561					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCACGCCCACCCAGTACAG	0.721																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1678-1680)gTg>gCg		hyaluronan synthase 1							12.0	14.0	13.0					19																	52216735		2168	4264	6432	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52216735A>G	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1682T>C	19.37:g.52216735A>G	ENSP00000222115:p.Val561Ala					HAS1_ENST00000222115.1_Missense_Mutation_p.V561A|HAS1_ENST00000601714.1_Missense_Mutation_p.V568A	p.V560A			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1739	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	561					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1679T>C	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	a	8.664	0.901231	0.17760	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.31769	1.49;1.48	3.25	2.1	0.27182	.	0.402692	0.21754	U	0.069627	T	0.16685	0.0401	N	0.21282	0.65	0.24831	N	0.992526	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.15607	-1.0431	10	0.20046	T	0.44	-16.5581	7.6722	0.28465	0.7877:0.2123:0.0:0.0	.	560;561;560	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	A	560;561	ENSP00000445021:V560A;ENSP00000222115:V561A	ENSP00000222115:V561A	V	-	2	0	HAS1	56908547	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.442000	0.66575	1.484000	0.48361	0.147000	0.16070	GTG		0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		10	118	0	0	0	1	0	10	118				
NDST4	64579	broad.mit.edu	37	4	115769425	115769425	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115769425G>C	ENST00000264363.2	-	9	2564	c.1886C>G	c.(1885-1887)aCa>aGa	p.T629R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	629	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCCTCAAATGTCTTTGGACT	0.308																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1885-1887)aCa>aGa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							146.0	141.0	143.0					4																	115769425		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115769425G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1886C>G	4.37:g.115769425G>C	ENSP00000264363:p.Thr629Arg						p.T629R	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	9	2564	-		Ovarian(17;0.156)	629			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1886C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416859	0.83449	.	.	ENSG00000138653	ENST00000264363	D	0.82344	-1.6	5.71	5.71	0.89125	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92289	0.5840	10	0.87932	D	0	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	629	Q9H3R1	NDST4_HUMAN	R	629	ENSP00000264363:T629R	ENSP00000264363:T629R	T	-	2	0	NDST4	115988874	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	9.406000	0.97321	2.687000	0.91594	0.655000	0.94253	ACA		0.308	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		81	289	0	0	0	1	0	81	289				
MCM5	4174	broad.mit.edu	37	22	35808506	35808506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35808506G>A	ENST00000216122.4	+	8	1077	c.923G>A	c.(922-924)cGc>cAc	p.R308H	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R265H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACCAAGGCCGCAGCTTTGCT	0.632																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(922-924)cGc>cAc		minichromosome maintenance complex component 5							67.0	70.0	69.0					22																	35808506		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35808506G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.923G>A	22.37:g.35808506G>A	ENSP00000216122:p.Arg308His					MCM5_ENST00000382011.5_Missense_Mutation_p.R265H|MCM5_ENST00000465557.1_3'UTR	p.R308H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			8	1077	+			308					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.923G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555671	0.45487	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.03801	4.13;3.8	5.62	4.6	0.57074	.	0.097141	0.64402	D	0.000001	T	0.10423	0.0255	M	0.86028	2.79	0.58432	D	0.999992	B;B;B;B	0.13594	0.008;0.008;0.008;0.008	B;B;B;B	0.12837	0.008;0.008;0.008;0.008	T	0.01545	-1.1328	10	0.56958	D	0.05	-25.5116	11.3088	0.49351	0.1579:0.0:0.8421:0.0	.	308;308;265;308	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	H	308;265;217	ENSP00000216122:R308H;ENSP00000371441:R265H	ENSP00000216122:R308H	R	+	2	0	MCM5	34138506	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	5.437000	0.66544	1.383000	0.46405	-0.258000	0.10820	CGC		0.632	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			135	501	0	0	0	1	0	135	501				
LRRC16A	55604	broad.mit.edu	37	6	25466164	25466164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25466164G>T	ENST00000329474.6	+	9	1046	c.678G>T	c.(676-678)aaG>aaT	p.K226N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	226					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTCCTCTAAGGATCTAAAAC	0.363																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(676-678)aaG>aaT		leucine rich repeat containing 16A							159.0	150.0	152.0					6																	25466164		1853	4091	5944	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25466164G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.678G>T	6.37:g.25466164G>T	ENSP00000331983:p.Lys226Asn					LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	p.K226N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			9	1046	+			226					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.678G>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232859	0.39498	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.52983	0.64;0.64	5.89	5.02	0.67125	.	0.048959	0.85682	D	0.000000	T	0.34483	0.0899	L	0.50333	1.59	0.48087	D	0.999589	P;P;P;P	0.46987	0.868;0.469;0.888;0.589	B;B;P;B	0.47915	0.358;0.253;0.561;0.288	T	0.10894	-1.0610	10	0.22706	T	0.39	.	13.3814	0.60768	0.0724:0.0:0.9276:0.0	.	226;226;226;65	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	N	226;226;65	ENSP00000331983:K226N;ENSP00000367206:K65N	ENSP00000331983:K226N	K	+	3	2	LRRC16A	25574143	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	5.750000	0.68712	1.508000	0.48769	-0.141000	0.14075	AAG		0.363	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		90	388	1	0	6.31949e-53	1	7.86834e-53	90	388				
EIF4ENIF1	56478	broad.mit.edu	37	22	31844161	31844161	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31844161G>T	ENST00000397525.1	-	13	2049	c.1826C>A	c.(1825-1827)cCc>cAc	p.P609H	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	609						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGGCTCATGGGTTTGCGCAT	0.532																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1825-1827)cCc>cAc		eukaryotic translation initiation factor 4E nuclear import factor 1							239.0	208.0	219.0					22																	31844161		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31844161G>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1826C>A	22.37:g.31844161G>T	ENSP00000380659:p.Pro609His					EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H	p.P609H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			13	2049	-			609					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1826C>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880164	0.91740	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	6.16	0.99307	.	0.404947	0.30630	N	0.009207	T	0.66376	0.2783	L	0.38175	1.15	0.42328	D	0.992287	P;D;P;P	0.61080	0.896;0.989;0.797;0.914	P;P;P;P	0.60345	0.694;0.873;0.57;0.726	T	0.66681	-0.5862	9	0.66056	D	0.02	-6.1473	18.0158	0.89239	0.0:0.0:1.0:0.0	.	434;609;434;585	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	434;609;609;585;264;166	.	ENSP00000328103:P609H	P	-	2	0	EIF4ENIF1	30174161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.493000	0.73658	2.937000	0.99478	0.650000	0.86243	CCC		0.532	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		94	500	1	0	2.28175e-60	1	2.86979e-60	94	500				
ZNF85	7639	broad.mit.edu	37	19	21131956	21131956	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131956C>T	ENST00000328178.8	+	4	749	c.636C>T	c.(634-636)aaC>aaT	p.N212N	ZNF85_ENST00000345030.6_Silent_p.N179N|ZNF85_ENST00000601023.1_Silent_p.N153N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	212					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGCCTTTAACTGGTCCTCAA	0.368																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(457-459)aaC>aaT		zinc finger protein 85							38.0	41.0	40.0					19																	21131956		2196	4296	6492	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131956C>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.636C>T	19.37:g.21131956C>T						ZNF85_ENST00000345030.6_Silent_p.N179N|ZNF85_ENST00000328178.8_Silent_p.N212N	p.N153N			Q03923	ZNF85_HUMAN			2	1105	+			212					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.459C>T	CCDS32977.1																																																																																				0.368	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		58	198	0	0	0	1	0	58	198				
FAM214A	56204	broad.mit.edu	37	15	52901191	52901191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52901191C>T	ENST00000261844.7	-	6	2072	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	FAM214A_ENST00000546305.2_Silent_p.Q647Q	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	640																	AATTTGAATACTGTTTATCAA	0.299																																						ENST00000261844.7																			0											c.(1918-1920)caG>caA		family with sequence similarity 214, member A							117.0	115.0	115.0					15																	52901191		1814	4072	5886	SO:0001819	synonymous_variant	56204							g.chr15:52901191C>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1920G>A	15.37:g.52901191C>T						FAM214A_ENST00000546305.2_Silent_p.Q647Q	p.Q640Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	2072	-			640					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.1920G>A	CCDS45263.1																																																																																				0.299	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		75	285	0	0	0	1	0	75	285				
ANK1	286	broad.mit.edu	37	8	41554206	41554206	+	Missense_Mutation	SNP	G	G	A	rs146518198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41554206G>A	ENST00000347528.4	-	25	2806	c.2723C>T	c.(2722-2724)cCg>cTg	p.P908L	ANK1_ENST00000396942.1_Missense_Mutation_p.P908L|ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L|ANK1_ENST00000289734.7_Missense_Mutation_p.P908L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	908					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGTATGCACCGGGCTGGCCAC	0.622																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2722-2724)cCg>cTg		ankyrin 1, erythrocytic		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	38.0	42.0	41.0		2723,2846,2723,2723,2723	5.7	1.0	8	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	98,98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	908/1881,949/1898,908/1857,908/1882,908/1720	41554206	1,13005	2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554206G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2723C>T	8.37:g.41554206G>A	ENSP00000339620:p.Pro908Leu					ANK1_ENST00000289734.7_Missense_Mutation_p.P908L|ANK1_ENST00000347528.4_Missense_Mutation_p.P908L|ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L	p.P908L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		25	2806	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	908					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2723C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117445	0.77323	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.67171	-0.24;-0.24;-0.21;-0.19;-0.21;-0.2;-0.25	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.83692	2.655	0.80722	D	1	B;B;B;P;B;B	0.37636	0.178;0.414;0.012;0.603;0.178;0.413	B;B;B;B;B;B	0.34138	0.082;0.039;0.01;0.176;0.082;0.037	T	0.74423	-0.3670	10	0.48119	T	0.1	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	949;908;908;908;908;224	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	908;908;908;908;908;908;949;908	ENSP00000339620:P908L;ENSP00000289734:P908L;ENSP00000369082:P908L;ENSP00000380149:P908L;ENSP00000380147:P908L;ENSP00000309131:P908L;ENSP00000265709:P949L	ENSP00000265709:P949L	P	-	2	0	ANK1	41673363	1.000000	0.71417	0.962000	0.40283	0.927000	0.56198	9.553000	0.98118	2.686000	0.91538	0.561000	0.74099	CCG		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		38	224	0	0	0	1	0	38	224				
ABCA3	21	broad.mit.edu	37	16	2358456	2358456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2358456G>A	ENST00000301732.5	-	11	1980	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	427					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A427V(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CTCACCTTTCGCCTCAAATTT	0.557																																						ENST00000301732.5																			1	Substitution - Missense(1)	p.A427V(1)	large_intestine(1)	breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1279-1281)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 3							103.0	86.0	92.0					16																	2358456		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2358456G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1280C>T	16.37:g.2358456G>A	ENSP00000301732:p.Ala427Val					ABCA3_ENST00000382381.3_Intron	p.A427V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			11	1980	-		Ovarian(90;0.17)	427					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.1280C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738516	0.15574	.	.	ENSG00000167972	ENST00000301732	T	0.74632	-0.86	5.65	3.59	0.41128	.	.	.	.	.	T	0.61850	0.2380	L	0.53780	1.695	0.80722	D	1	B;B	0.32829	0.386;0.386	B;B	0.22753	0.041;0.041	T	0.56625	-0.7948	9	0.20046	T	0.44	.	8.2688	0.31831	0.0863:0.2912:0.6225:0.0	.	427;427	A7MBM9;Q99758	.;ABCA3_HUMAN	V	427	ENSP00000301732:A427V	ENSP00000301732:A427V	A	-	2	0	ABCA3	2298457	1.000000	0.71417	0.042000	0.18584	0.005000	0.04900	6.126000	0.71635	1.389000	0.46526	0.650000	0.86243	GCG		0.557	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		38	227	0	0	0	1	0	38	227				
UTF1	8433	broad.mit.edu	37	10	135044789	135044789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135044789C>T	ENST00000304477.2	+	2	884	c.869C>T	c.(868-870)gCg>gTg	p.A290V		NM_003577.2	NP_003568.2			undifferentiated embryonic cell transcription factor 1											upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GGCGACATCGCGAACATCCTG	0.746																																						ENST00000304477.2																			0				upper_aerodigestive_tract(1)	1						c.(868-870)gCg>gTg		undifferentiated embryonic cell transcription factor 1							7.0	8.0	8.0					10																	135044789		2087	4137	6224	SO:0001583	missense	8433				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity	g.chr10:135044789C>T	AB011076	CCDS31318.1	10q26	2008-07-04			ENSG00000171794	ENSG00000171794			12634	protein-coding gene	gene with protein product		604130				9748258, 18281244	Standard	NM_003577		Approved		uc001lmc.3	Q5T230	OTTHUMG00000019302	ENST00000304477.2:c.869C>T	10.37:g.135044789C>T	ENSP00000305906:p.Ala290Val						p.A290V	NM_003577.2	NP_003568.2	Q5T230	UTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	2	884	+		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	290			Leucine-zipper.			Missense_Mutation	SNP	ENST00000304477.2	37	c.869C>T	CCDS31318.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.655222	0.00779	.	.	ENSG00000171794	ENST00000304477	T	0.20200	2.09	3.01	-3.48	0.04739	.	.	.	.	.	T	0.07458	0.0188	N	0.08118	0	0.18873	N	0.999988	B	0.14438	0.01	B	0.04013	0.001	T	0.41627	-0.9498	9	0.02654	T	1	-7.4131	9.1568	0.36998	0.0:0.6073:0.0:0.3927	.	290	Q5T230	UTF1_HUMAN	V	290	ENSP00000305906:A290V	ENSP00000305906:A290V	A	+	2	0	UTF1	134894779	0.020000	0.18652	0.015000	0.15790	0.137000	0.21094	-0.328000	0.07945	-0.559000	0.06110	-0.658000	0.03865	GCG		0.746	UTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051105.1			8	51	0	0	0	1	0	8	51				
LRP1B	53353	broad.mit.edu	37	2	141113963	141113963	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141113963G>T	ENST00000389484.3	-	75	12449	c.11478C>A	c.(11476-11478)ttC>ttA	p.F3826L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3826	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAGCGACAGAAAACAGATG	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11476-11478)ttC>ttA		low density lipoprotein receptor-related protein 1B							120.0	122.0	121.0					2																	141113963		2202	4300	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141113963G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11478C>A	2.37:g.141113963G>T	ENSP00000374135:p.Phe3826Leu	TSP Lung(27;0.18)					p.F3826L	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	75	12449	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3826			EGF-like 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11478C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.83|12.83	2.056885|2.056885	0.36277|0.36277	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.27557|.	1.66|.	5.83|5.83	4.93|4.93	0.64822|0.64822	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.405864|.	0.24373|.	N|.	0.039086|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.29908|0.29908	0.895|0.895	0.30927|0.30927	N|N	0.727314|0.727314	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.33214|0.33214	-0.9877|-0.9877	10|5	0.12766|.	T|.	0.61|.	.|.	5.3529|5.3529	0.16045|0.16045	0.2398:0.1613:0.5989:0.0|0.2398:0.1613:0.5989:0.0	.|.	3826|.	Q9NZR2|.	LRP1B_HUMAN|.	L|Y	3826;3764|58	ENSP00000374135:F3826L|.	ENSP00000374135:F3826L|.	F|S	-|-	3|2	2|0	LRP1B|LRP1B	140830433|140830433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.148000|1.148000	0.31614|0.31614	1.402000|1.402000	0.46780|0.46780	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		97	287	1	0	1.31458e-49	1	1.62656e-49	97	287				
MCM3	4172	broad.mit.edu	37	6	52148176	52148176	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52148176A>G	ENST00000229854.7	-	2	183	c.107T>C	c.(106-108)gTt>gCt	p.V36A	MCM3_ENST00000419835.2_Intron|MCM3_ENST00000596288.1_Missense_Mutation_p.V81A			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	36					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGCTCCCGAACTTTGCTCTG	0.453																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(241-243)gTt>gCt		minichromosome maintenance complex component 3							204.0	176.0	185.0					6																	52148176		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52148176A>G	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.107T>C	6.37:g.52148176A>G	ENSP00000229854:p.Val36Ala					MCM3_ENST00000419835.2_Intron|MCM3_ENST00000229854.7_Missense_Mutation_p.V36A	p.V81A	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			2	269	-	Lung NSC(77;0.0931)		36					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.242T>C		.	.	.	.	.	.	.	.	.	.	A	28.3	4.904051	0.92035	.	.	ENSG00000112118	ENST00000229854	T	0.11821	2.74	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);	0.122293	0.56097	D	0.000038	T	0.20577	0.0495	M	0.88570	2.965	0.80722	D	1	P	0.45474	0.859	P	0.46208	0.507	T	0.08432	-1.0722	10	0.72032	D	0.01	-10.427	14.6754	0.68975	1.0:0.0:0.0:0.0	.	36	P25205	MCM3_HUMAN	A	36	ENSP00000229854:V36A	ENSP00000229854:V36A	V	-	2	0	MCM3	52256135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.051000	0.60960	0.533000	0.62120	GTT		0.453	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			76	396	0	0	0	1	0	76	396				
KCNA6	3742	broad.mit.edu	37	12	4920607	4920607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4920607G>A	ENST00000280684.3	+	1	2266	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	KCNA6_ENST00000433855.1_Missense_Mutation_p.R467Q|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	467					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TTCTACCACCGGGAGACGGAG	0.617										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(1399-1401)cGg>cAg		potassium voltage-gated channel, shaker-related subfamily, member 6							127.0	117.0	121.0					12																	4920607		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920607G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1400G>A	12.37:g.4920607G>A	ENSP00000280684:p.Arg467Gln	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.R467Q	p.R467Q	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	2266	+			467						Missense_Mutation	SNP	ENST00000280684.3	37	c.1400G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430908	0.83776	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97378	-4.36;-4.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.82630	2.6	0.58432	D	0.999998	D	0.56746	0.977	P	0.49451	0.611	D	0.97072	0.9778	10	0.38643	T	0.18	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	467	P17658	KCNA6_HUMAN	Q	467	ENSP00000408321:R467Q;ENSP00000280684:R467Q	ENSP00000280684:R467Q	R	+	2	0	KCNA6	4790868	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.565000	0.98154	2.641000	0.89580	0.591000	0.81541	CGG		0.617	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		77	333	0	0	0	1	0	77	333				
CCAR1	55749	broad.mit.edu	37	10	70508917	70508917	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70508917G>A	ENST00000265872.6	+	9	970	c.851G>A	c.(850-852)cGt>cAt	p.R284H	CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H|CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	284					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCTCCTGTTCGTATAGTTTCA	0.408																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(850-852)cGt>cAt		cell division cycle and apoptosis regulator 1							66.0	66.0	66.0					10																	70508917		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70508917G>A	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.851G>A	10.37:g.70508917G>A	ENSP00000265872:p.Arg284His					CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H|CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H	p.R284H	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			9	970	+			284					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.851G>A	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612691	0.87258	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.29655	1.56;1.77;1.77;1.76;1.8;1.77	5.43	5.43	0.79202	.	0.052549	0.85682	D	0.000000	T	0.51261	0.1664	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.984;0.987;0.994	T	0.48768	-0.9006	10	0.56958	D	0.05	-9.1222	19.2324	0.93845	0.0:0.0:1.0:0.0	.	269;284;258	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	284;269;269;269;258;89	ENSP00000265872:R284H;ENSP00000441820:R269H;ENSP00000445254:R269H;ENSP00000439252:R269H;ENSP00000438610:R258H;ENSP00000439642:R89H	ENSP00000265872:R284H	R	+	2	0	CCAR1	70178923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.832000	0.92079	2.524000	0.85096	0.650000	0.86243	CGT		0.408	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		70	355	0	0	0	1	0	70	355				
INCENP	3619	broad.mit.edu	37	11	61919402	61919402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61919402G>A	ENST00000394818.3	+	19	2913	c.2711G>A	c.(2710-2712)gGc>gAc	p.G904D	INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	904					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCTGCAGGGCGCCAGGGTC	0.607																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2710-2712)gGc>gAc		inner centromere protein antigens 135/155kDa							35.0	37.0	36.0					11																	61919402		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61919402G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2711G>A	11.37:g.61919402G>A	ENSP00000378295:p.Gly904Asp					INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	p.G904D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			19	2913	+			904					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.2711G>A	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349411	0.41599	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.15718	2.46;2.4	5.66	0.169	0.15017	.	0.256920	0.27558	N	0.018829	T	0.22627	0.0546	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.04900	-1.0919	10	0.72032	D	0.01	.	6.141	0.20259	0.0733:0.3729:0.4324:0.1213	.	900;904	Q9NQS7-2;Q9NQS7	.;INCE_HUMAN	D	904;900	ENSP00000378295:G904D;ENSP00000278849:G900D	ENSP00000278849:G900D	G	+	2	0	INCENP	61675978	0.991000	0.36638	0.069000	0.20011	0.248000	0.25809	2.172000	0.42463	0.016000	0.14998	0.462000	0.41574	GGC		0.607	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		43	236	0	0	0	1	0	43	236				
DPP10	57628	broad.mit.edu	37	2	116101463	116101463	+	Silent	SNP	C	C	T	rs143448690	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101463C>T	ENST00000410059.1	+	3	726	c.246C>T	c.(244-246)caC>caT	p.H82H	DPP10_ENST00000310323.8_Silent_p.H75H|DPP10_ENST00000409163.1_Silent_p.H32H|DPP10_ENST00000393147.2_Silent_p.H86H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	82						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTGCTTCACGATCCAGAGG	0.333													C|||	3	0.000599042	0.0	0.0	5008	,	,		14959	0.0		0.0	False		,,,				2504	0.0031					ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(244-246)caC>caT		dipeptidyl-peptidase 10 (non-functional)							86.0	88.0	87.0					2																	116101463		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116101463C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.246C>T	2.37:g.116101463C>T						DPP10_ENST00000409163.1_Silent_p.H32H|DPP10_ENST00000393147.2_Silent_p.H86H|DPP10_ENST00000310323.8_Silent_p.H75H	p.H82H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			3	726	+			82					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.246C>T	CCDS46400.1																																																																																				0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		63	272	0	0	0	1	0	63	272				
SEC13	6396	broad.mit.edu	37	3	10342953	10342953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10342953C>T	ENST00000350697.3	-	9	1086	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000383801.2_Missense_Mutation_p.E367K	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	321					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)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGTCACTGCTCGTTCTGCTGG	0.607																																						ENST00000383801.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(1099-1101)Gag>Aag		SEC13 homolog (S. cerevisiae)							104.0	84.0	91.0					3																	10342953		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10342953C>T		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.961G>A	3.37:g.10342953C>T	ENSP00000312122:p.Glu321Lys					SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000350697.3_Missense_Mutation_p.E321K	p.E367K			P55735	SEC13_HUMAN			10	1170	-			321					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.1099G>A	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616837	0.87359	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.68479	0.93;-0.21;-0.33;-0.33	5.23	5.23	0.72850	.	0.102103	0.64402	D	0.000002	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;B	0.38827	0.649;0.203	B;B	0.28991	0.097;0.012	T	0.65869	-0.6063	10	0.62326	D	0.03	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	367;321	B4DXJ1;P55735	.;SEC13_HUMAN	K	307;324;321;367	ENSP00000380298:E307K;ENSP00000336566:E324K;ENSP00000312122:E321K;ENSP00000373312:E367K	ENSP00000336566:E324K	E	-	1	0	SEC13	10317953	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAG		0.607	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			88	343	0	0	0	1	0	88	343				
WDR46	9277	broad.mit.edu	37	6	33247071	33247071	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33247071C>A	ENST00000374617.4	-	15	2171	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	605							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAAATCTGTCCAGGGCAGATG	0.617																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(1813-1815)ctG>ctT		WD repeat domain 46							90.0	98.0	95.0					6																	33247071		2203	4300	6503	SO:0001819	synonymous_variant	9277							g.chr6:33247071C>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1815G>T	6.37:g.33247071C>A						B3GALT4_ENST00000606990.1_Intron	p.L605L	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			15	2171	-			605					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	37	c.1815G>T	CCDS4772.1																																																																																				0.617	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		26	816	1	0	3.1745e-13	1	3.424e-13	26	816				
CPAMD8	27151	broad.mit.edu	37	19	17132946	17132946	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17132946C>A	ENST00000443236.1	-	2	310	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	46						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGATGACTTCCTCCACGCCCG	0.602																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(277-279)gaG>gaT		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							36.0	36.0	36.0					19																	17132946		1953	4139	6092	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17132946C>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.279G>T	19.37:g.17132946C>A	ENSP00000402505:p.Glu93Asp					CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	p.E93D	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			2	310	-			46					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.279G>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.64|12.64	1.997869|1.997869	0.35226|0.35226	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.53640|.	0.61;0.62|.	3.06|3.06	2.0|2.0	0.26442|0.26442	.|.	0.317597|.	0.24012|.	U|.	0.042378|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.52759|0.52759	1.655|1.655	0.31172|0.31172	N|N	0.703042|0.703042	B|.	0.22276|.	0.067|.	B|.	0.15052|.	0.012|.	T|T	0.47182|0.47182	-0.9137|-0.9137	10|5	0.23302|.	T|.	0.38|.	.|.	6.1895|6.1895	0.20516|0.20516	0.0:0.7583:0.0:0.2417|0.0:0.7583:0.0:0.2417	.|.	46|.	Q8IZJ3|.	CPMD8_HUMAN|.	D|M	93;46|104	ENSP00000291440:E93D;ENSP00000373577:E46D|.	ENSP00000291440:E93D|.	E|R	-|-	3|2	2|0	CPAMD8|CPAMD8	16993946|16993946	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.795000|0.795000	0.44927|0.44927	2.502000|2.502000	0.45398|0.45398	0.290000|0.290000	0.22444|0.22444	-0.229000|-0.229000	0.12294|0.12294	GAG|AGG		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		21	54	1	0	2.27731e-05	1	2.32891e-05	21	54				
UGCG	7357	broad.mit.edu	37	9	114693625	114693625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114693625C>T	ENST00000374279.3	+	7	1262	c.812C>T	c.(811-813)tCc>tTc	p.S271F	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	271					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGTTTCAATCCAGAATGATC	0.338																																						ENST00000374279.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12						c.(811-813)tCc>tTc		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)						94.0	93.0	93.0					9																	114693625		2203	4300	6503	SO:0001583	missense	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114693625C>T	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.812C>T	9.37:g.114693625C>T	ENSP00000363397:p.Ser271Phe						p.S271F	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	7	1262	+			271					Q5T258	Missense_Mutation	SNP	ENST00000374279.3	37	c.812C>T	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879392	0.91740	.	.	ENSG00000148154	ENST00000374279	T	0.59638	0.25	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.48642	1.525	0.80722	D	1	D	0.56035	0.974	P	0.59889	0.865	T	0.68383	-0.5423	10	0.56958	D	0.05	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	271	Q16739	CEGT_HUMAN	F	271	ENSP00000363397:S271F	ENSP00000363397:S271F	S	+	2	0	UGCG	113733446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.800000	0.62524	2.831000	0.97527	0.650000	0.86243	TCC		0.338	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		27	179	0	0	0	1	0	27	179				
RND3	390	broad.mit.edu	37	2	151326722	151326722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:151326722C>T	ENST00000375734.2	-	5	763	c.514G>A	c.(514-516)Gct>Act	p.A172T	RND3_ENST00000409557.1_Missense_Mutation_p.A43T|RND3_ENST00000472416.1_5'Flank|RND3_ENST00000263895.4_Missense_Mutation_p.A172T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	172					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		ATATAAGTAGCTGCTCCAATC	0.403																																						ENST00000375734.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(514-516)Gct>Act		Rho family GTPase 3							91.0	86.0	88.0					2																	151326722		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151326722C>T		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.514G>A	2.37:g.151326722C>T	ENSP00000364886:p.Ala172Thr					RND3_ENST00000263895.4_Missense_Mutation_p.A172T|RND3_ENST00000409557.1_Missense_Mutation_p.A43T	p.A172T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	5	763	-			172					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.514G>A	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952131	0.73787	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.77229	-1.08;-1.08;-1.08	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	N	0.12853	0.265	0.80722	D	1	D;D;D	0.60575	0.988;0.976;0.976	D;P;P	0.73708	0.981;0.625;0.697	T	0.83249	-0.0054	10	0.66056	D	0.02	-3.7331	19.0713	0.93138	0.0:1.0:0.0:0.0	.	35;171;172	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	172;172;43	ENSP00000364886:A172T;ENSP00000263895:A172T;ENSP00000386576:A43T	ENSP00000263895:A172T	A	-	1	0	RND3	151034968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.793000	0.85851	2.751000	0.94390	0.650000	0.86243	GCT		0.403	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		108	300	0	0	0	1	0	108	300				
AKAP9	10142	broad.mit.edu	37	7	91709392	91709392	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91709392C>T	ENST00000359028.2	+	32	8206	c.7981C>T	c.(7981-7983)Cta>Tta	p.L2661L	AKAP9_ENST00000358100.2_Silent_p.L2661L|AKAP9_ENST00000356239.3_Silent_p.L2649L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2661	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACAGAAGCTATTGGAGGG	0.308			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7981-7983)Cta>Tta		A kinase (PRKA) anchor protein 9							20.0	22.0	22.0					7																	91709392		2090	4242	6332	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91709392C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7981C>T	7.37:g.91709392C>T						AKAP9_ENST00000356239.3_Silent_p.L2649L|AKAP9_ENST00000358100.2_Silent_p.L2661L	p.L2661L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	8206	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2661			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.7981C>T																																																																																					0.308	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		45	144	0	0	0	1	0	45	144				
EFCAB5	374786	broad.mit.edu	37	17	28386688	28386688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386688G>T	ENST00000394835.3	+	14	2898	c.2706G>T	c.(2704-2706)aaG>aaT	p.K902N	AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	902	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACATACAAGGAGGGAATGG	0.388																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(2704-2706)aaG>aaT		EF-hand calcium binding domain 5							65.0	64.0	64.0					17																	28386688		1838	4092	5930	SO:0001583	missense	374786						calcium ion binding	g.chr17:28386688G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2706G>T	17.37:g.28386688G>T	ENSP00000378312:p.Lys902Asn					EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|EFCAB5_ENST00000320856.5_Intron|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000541045.1_Intron	p.K902N	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			14	2898	+			902			EF-hand.		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2706G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424923	0.62733	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	T;T;T	0.21031	2.03;2.03;2.03	5.35	3.33	0.38152	EF-hand-like domain (1);	.	.	.	.	T	0.43567	0.1253	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41752	-0.9491	9	0.87932	D	0	-17.5267	10.4304	0.44405	0.1645:0.0:0.8355:0.0	.	902;902	B5MEA3;A4FU69	.;EFCB5_HUMAN	N	902	ENSP00000378312:K902N;ENSP00000378309:K902N;ENSP00000368012:K902N	ENSP00000368012:K902N	K	+	3	2	EFCAB5	25410814	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.089000	0.50183	1.259000	0.44117	0.449000	0.29647	AAG		0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		52	186	1	0	2.55665e-31	1	3.00904e-31	52	186				
ERBB2	2064	broad.mit.edu	37	17	37883966	37883966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37883966G>A	ENST00000269571.5	+	27	3596	c.3437G>A	c.(3436-3438)cGg>cAg	p.R1146Q	ERBB2_ENST00000406381.2_Missense_Mutation_p.R1116Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000584450.1_3'UTR|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1146					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCAGATGTTCGGCCCCAGCCC	0.622		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3346-3348)cGg>cAg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						38.0	46.0	43.0					17																	37883966		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883966G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3437G>A	17.37:g.37883966G>A	ENSP00000269571:p.Arg1146Gln	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1146Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q	p.R1116Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	29	3857	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1146					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3347G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	2.279	-0.365160	0.05103	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75154	-0.91;-0.91;-0.89;-0.91;-0.91	5.06	-1.24	0.09435	.	.	.	.	.	T	0.62380	0.2423	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.06405	0.002;0.002;0.001	T	0.47711	-0.9096	9	0.24483	T	0.36	.	9.9529	0.41649	0.4335:0.0:0.5665:0.0	.	870;1131;1146	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	1116;1131;870;1146;1116	ENSP00000385185:R1116Q;ENSP00000446466:R1131Q;ENSP00000404047:R870Q;ENSP00000269571:R1146Q;ENSP00000443562:R1116Q	ENSP00000269571:R1146Q	R	+	2	0	ERBB2	35137492	0.000000	0.05858	0.068000	0.19968	0.277000	0.26821	0.169000	0.16641	-0.072000	0.12864	0.455000	0.32223	CGG		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			53	203	0	0	0	1	0	53	203				
RPTOR	57521	broad.mit.edu	37	17	78923309	78923309	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78923309C>T	ENST00000306801.3	+	28	3694	c.3332C>T	c.(3331-3333)gCg>gTg	p.A1111V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1111					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ATGGTGACCGCGTGGCAGGGG	0.612																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(3331-3333)gCg>gTg		regulatory associated protein of MTOR, complex 1							176.0	167.0	170.0					17																	78923309		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78923309C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3332C>T	17.37:g.78923309C>T	ENSP00000307272:p.Ala1111Val					RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V|RPTOR_ENST00000575542.1_3'UTR	p.A1111V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			28	3694	+			1111					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.3332C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157797	0.94686	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.26660	1.72;1.72	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.71184	0.972;0.46	T	0.65751	-0.6092	10	0.56958	D	0.05	.	17.552	0.87879	0.0:1.0:0.0:0.0	.	953;1111	F5H7J5;Q8N122	.;RPTOR_HUMAN	V	1111;953	ENSP00000307272:A1111V;ENSP00000442479:A953V	ENSP00000307272:A1111V	A	+	2	0	RPTOR	76537904	1.000000	0.71417	0.057000	0.19452	0.959000	0.62525	7.353000	0.79414	2.145000	0.66743	0.462000	0.41574	GCG		0.612	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		196	913	0	0	0	1	0	196	913				
PNLIPRP2	5408	broad.mit.edu	37	10	118404618	118404618	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118404618G>A	ENST00000298771.7	+	0	1445				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAAACGTGGTGCAGCTATTGC	0.398																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							74.0	76.0	75.0					10																	118404618		1885	4117	6002			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118404618G>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118404618G>A						PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	1443	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37																																																																																						0.398	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		12	82	0	0	0	1	0	12	82				
ZDHHC8	29801	broad.mit.edu	37	22	20130691	20130691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20130691C>T	ENST00000334554.7	+	10	1679	c.1538C>T	c.(1537-1539)gCa>gTa	p.A513V	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	513					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CATCCTGGGGCAACGGGCGAC	0.721																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(1537-1539)gCa>gTa		zinc finger, DHHC-type containing 8							25.0	28.0	27.0					22																	20130691		2198	4287	6485	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20130691C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1538C>T	22.37:g.20130691C>T	ENSP00000334490:p.Ala513Val					ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V	p.A513V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			10	1679	+	Colorectal(54;0.0993)		513					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.1538C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	9.033	0.987662	0.18966	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.72282	1.37;-0.64;1.34	4.79	-1.64	0.08318	.	2.240760	0.01898	N	0.039000	T	0.55210	0.1906	L	0.29908	0.895	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.002;0.008;0.001	T	0.25882	-1.0119	10	0.17832	T	0.49	.	4.9567	0.14044	0.0:0.233:0.1772:0.5898	.	421;513;513	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	V	513;421;513	ENSP00000334490:A513V;ENSP00000317804:A421V;ENSP00000384716:A513V	ENSP00000317804:A421V	A	+	2	0	ZDHHC8	18510691	0.000000	0.05858	0.025000	0.17156	0.312000	0.27988	-0.092000	0.11129	0.120000	0.18254	0.491000	0.48974	GCA		0.721	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		79	347	0	0	0	1	0	79	347				
MAGI3	260425	broad.mit.edu	37	1	114196597	114196597	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114196597T>C	ENST00000307546.9	+	15	2661	c.2586T>C	c.(2584-2586)ttT>ttC	p.F862F	MAGI3_ENST00000369611.4_Silent_p.F862F|MAGI3_ENST00000369617.4_Silent_p.F887F|MAGI3_ENST00000369615.1_Silent_p.F862F	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	887					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAAGGATTTGGCTTTGTCA	0.517																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2584-2586)ttT>ttC		membrane associated guanylate kinase, WW and PDZ domain containing 3							201.0	208.0	205.0					1																	114196597		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114196597T>C	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2586T>C	1.37:g.114196597T>C						MAGI3_ENST00000369617.4_Silent_p.F887F|MAGI3_ENST00000307546.9_Silent_p.F862F|MAGI3_ENST00000369611.4_Silent_p.F862F	p.F862F	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2648	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	887					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2586T>C	CCDS44196.1																																																																																				0.517	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		35	1215	0	0	0	1	0	35	1215				
CDAN1	146059	broad.mit.edu	37	15	43027557	43027557	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027557T>C	ENST00000356231.3	-	5	982	c.959A>G	c.(958-960)aAc>aGc	p.N320S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	320					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAAGAAGAGGTTTGGTACCAG	0.498																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(958-960)aAc>aGc		codanin 1							34.0	38.0	36.0					15																	43027557		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027557T>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.959A>G	15.37:g.43027557T>C	ENSP00000348564:p.Asn320Ser						p.N320S	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	5	982	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	320					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.959A>G	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525466	0.44969	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89552	-2.53	6.04	4.92	0.64577	.	0.180260	0.64402	D	0.000014	T	0.80297	0.4597	L	0.31207	0.915	0.42507	D	0.992951	B	0.19583	0.037	B	0.18561	0.022	T	0.74551	-0.3628	10	0.33940	T	0.23	-18.465	6.6711	0.23068	0.0:0.1664:0.0:0.8336	.	320	Q8IWY9	CDAN1_HUMAN	S	320;318	ENSP00000348564:N320S	ENSP00000267892:N318S	N	-	2	0	CDAN1	40814849	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.021000	0.41020	2.317000	0.78254	0.459000	0.35465	AAC		0.498	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		6	62	0	0	0	1	0	6	62				
FCRL5	83416	broad.mit.edu	37	1	157504525	157504525	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157504525G>T	ENST00000361835.3	-	8	1717	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000356953.4_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000368190.3_Silent_p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	520	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTCCCACAGAGGGTGTTGAGC	0.512																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1558-1560)ccC>ccA		Fc receptor-like 5							61.0	60.0	60.0					1																	157504525		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504525G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1560C>A	1.37:g.157504525G>T						FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000356953.4_Silent_p.P520P|FCRL5_ENST00000368190.3_Silent_p.P520P	p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1717	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	520			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.1560C>A	CCDS1165.1																																																																																				0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		39	194	1	0	6.97489e-18	1	7.71847e-18	39	194				
CADM2	253559	broad.mit.edu	37	3	85961642	85961642	+	Missense_Mutation	SNP	G	G	A	rs201652066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:85961642G>A	ENST00000407528.2	+	5	684	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	CADM2_ENST00000383699.3_Missense_Mutation_p.E217K|CADM2_ENST00000405615.2_Missense_Mutation_p.E210K	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	208	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTAGATCACGAATCCCTCAA	0.502																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(649-651)Gaa>Aaa		cell adhesion molecule 2							107.0	86.0	93.0					3																	85961642		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961642G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.622G>A	3.37:g.85961642G>A	ENSP00000384575:p.Glu208Lys					CADM2_ENST00000405615.2_Missense_Mutation_p.E210K|CADM2_ENST00000407528.2_Missense_Mutation_p.E208K	p.E217K	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1276	+		Lung NSC(201;0.0148)	208			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.649G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156200	0.94686	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76709	-1.04;-1.04;-1.04	5.5	5.5	0.81552	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048239	0.85682	D	0.000000	T	0.77718	0.4172	L	0.27053	0.805	0.58432	D	0.999991	P;D;D	0.64830	0.882;0.979;0.994	B;P;P	0.56163	0.091;0.558;0.793	T	0.73142	-0.4076	10	0.18710	T	0.47	.	19.3937	0.94596	0.0:0.0:1.0:0.0	.	210;217;208	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	K	217;208;210	ENSP00000373200:E217K;ENSP00000384575:E208K;ENSP00000384193:E210K	ENSP00000373200:E217K	E	+	1	0	CADM2	86044332	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	9.261000	0.95576	2.583000	0.87209	0.591000	0.81541	GAA		0.502	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		45	220	0	0	0	1	0	45	220				
TAF4B	6875	broad.mit.edu	37	18	23866330	23866330	+	Missense_Mutation	SNP	C	C	A	rs528866087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866330C>A	ENST00000269142.5	+	7	2455	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H|TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	486					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTGAAACCTGTTGTTTCT	0.483																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1456-1458)cCt>cAt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa																																				SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23866330C>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1457C>A	18.37:g.23866330C>A	ENSP00000269142:p.Pro486His					TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H|TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H	p.P486H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	2455	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		486					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1457C>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156372	0.21454	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26067	1.76;1.79;1.76	5.28	4.4	0.53042	.	0.319646	0.29846	N	0.011058	T	0.30885	0.0779	L	0.32530	0.975	0.20821	N	0.999847	D;D	0.69078	0.997;0.983	P;P	0.55667	0.781;0.635	T	0.06552	-1.0820	10	0.66056	D	0.02	-3.3309	11.2792	0.49184	0.0:0.9146:0.0:0.0854	.	486;486	Q92750;A4PBF7	TAF4B_HUMAN;.	H	486	ENSP00000389365:P486H;ENSP00000269142:P486H;ENSP00000383314:P486H	ENSP00000269142:P486H	P	+	2	0	TAF4B	22120328	0.043000	0.20138	0.658000	0.29665	0.859000	0.49053	2.122000	0.41987	2.483000	0.83821	0.557000	0.71058	CCT		0.483	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		90	414	1	0	2.48941e-46	1	3.05722e-46	90	414				
PTPN23	25930	broad.mit.edu	37	3	47454450	47454450	+	Silent	SNP	G	G	A	rs371856828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454450G>A	ENST00000265562.4	+	25	4763	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	PTPN23_ENST00000431726.1_Silent_p.P1436P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1562	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGAGGAGCCGCCAGTGCCTG	0.687																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4684-4686)ccG>ccA		protein tyrosine phosphatase, non-receptor type 23		G		0,4388		0,0,2194	10.0	13.0	12.0		4686	-3.4	0.0	3		12	1,8573		0,1,4286	no	coding-synonymous	PTPN23	NM_015466.2		0,1,6480	AA,AG,GG		0.0117,0.0,0.0077		1562/1637	47454450	1,12961	2194	4287	6481	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47454450G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4686G>A	3.37:g.47454450G>A						PTPN23_ENST00000431726.1_Silent_p.P1436P	p.P1562P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	25	4763	+			1562			Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.4686G>A	CCDS2754.1																																																																																				0.687	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		19	111	0	0	0	1	0	19	111				
SBNO2	22904	broad.mit.edu	37	19	1112468	1112468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112468G>A	ENST00000361757.3	-	21	2685	c.2448C>T	c.(2446-2448)aaC>aaT	p.N816N	SBNO2_ENST00000587024.1_Silent_p.N806N|SBNO2_ENST00000438103.2_Silent_p.N759N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	816					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCGCTGGTTCTGGACAC	0.706																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2446-2448)aaC>aaT		strawberry notch homolog 2 (Drosophila)							13.0	20.0	17.0					19																	1112468		2026	4147	6173	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1112468G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2448C>T	19.37:g.1112468G>A						SBNO2_ENST00000438103.2_Silent_p.N759N|SBNO2_ENST00000587024.1_Silent_p.N806N	p.N816N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	2685	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	816					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.2448C>T	CCDS45894.1																																																																																				0.706	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		18	77	0	0	0	1	0	18	77				
CYP8B1	1582	broad.mit.edu	37	3	42916392	42916392	+	Missense_Mutation	SNP	C	C	T	rs148690797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42916392C>T	ENST00000316161.4	-	1	1241	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	306					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.R306Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCTCACAGCCCGAATAGCTTC	0.587																																						ENST00000316161.4																			1	Substitution - Missense(1)	p.R306Q(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(916-918)cGg>cAg		cytochrome P450, family 8, subfamily B, polypeptide 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	30.0	28.0	29.0		917	-10.3	0.0	3	dbSNP_134	29	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP8B1	NM_004391.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	306/502	42916392	2,13004	2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916392C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.917G>A	3.37:g.42916392C>T	ENSP00000318867:p.Arg306Gln					CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	p.R306Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1241	-			306					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.917G>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	4.763	0.141844	0.09083	2.27E-4	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01252	5.1;5.1	5.39	-10.3	0.00346	.	0.685302	0.12927	N	0.427656	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B;B	0.22080	0.064;0.003	B;B	0.16289	0.015;0.009	T	0.43393	-0.9394	10	0.19590	T	0.45	-4.7685	9.862	0.41120	0.0:0.4397:0.0963:0.4639	.	306;306	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	306	ENSP00000404499:R306Q;ENSP00000318867:R306Q	ENSP00000318867:R306Q	R	-	2	0	CYP8B1	42891396	0.005000	0.15991	0.041000	0.18516	0.219000	0.24729	-0.442000	0.06871	-1.750000	0.01328	-1.069000	0.02264	CGG		0.587	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		37	126	0	0	0	1	0	37	126				
WWC1	23286	broad.mit.edu	37	5	167812302	167812302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167812302G>A	ENST00000265293.4	+	3	818	c.316G>A	c.(316-318)Gct>Act	p.A106T	WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	106					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCCCAGGAGGCTCTGAGTGC	0.562																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(316-318)Gct>Act		WW and C2 domain containing 1							106.0	106.0	106.0					5																	167812302		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167812302G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.316G>A	5.37:g.167812302G>A	ENSP00000265293:p.Ala106Thr					WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	p.A106T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	3	818	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	106					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.316G>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.630000|5.630000	0.96671|0.96671	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895	T;T|.	0.06449|.	3.3;3.3|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.74230|0.74230	0.3689|0.3689	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.502;1.0;0.995|.	B;D;D|.	0.87578|.	0.28;0.998;0.962|.	T|T	0.71300|0.71300	-0.4634|-0.4634	10|5	0.42905|.	T|.	0.14|.	.|.	19.6523|19.6523	0.95822|0.95822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106;12;106|.	Q8IX03-2;B3KX05;Q8IX03|.	.;.;KIBRA_HUMAN|.	T|D	106|67	ENSP00000265293:A106T;ENSP00000427772:A106T|.	ENSP00000265293:A106T|.	A|G	+|+	1|2	0|0	WWC1|WWC1	167744880|167744880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.576000|9.576000	0.98192|0.98192	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.562	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		53	263	0	0	0	1	0	53	263				
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	G	A	rs189118400	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40735471G>A	ENST00000373187.1	-	24	3344	c.3345C>T	c.(3343-3345)tgC>tgT	p.C1115C	PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373198.4_Silent_p.C1134C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582													G|||	6	0.00119808	0.0	0.0	5008	,	,		21259	0.006		0.0	False		,,,				2504	0.0					ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3409-3411)tgC>tgT		protein tyrosine phosphatase, receptor type, T							95.0	105.0	102.0					20																	40735471		2114	4235	6349	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735471G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3345C>T	20.37:g.40735471G>A						PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373187.1_Silent_p.C1115C	p.C1137C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			25	3646	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1115			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.3411C>T	CCDS42874.1																																																																																				0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			115	480	0	0	0	1	0	115	480				
NUP188	23511	broad.mit.edu	37	9	131730896	131730896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131730896C>T	ENST00000372577.2	+	9	718	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	233					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGTGACTTACTTGTATTAAC	0.428																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(697-699)Ctt>Ttt		nucleoporin 188kDa							162.0	150.0	154.0					9																	131730896		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131730896C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.697C>T	9.37:g.131730896C>T	ENSP00000361658:p.Leu233Phe						p.L233F	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			9	718	+			233					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.697C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.613707	0.46631	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35048	1.33	5.53	-2.97	0.05530	.	0.193822	0.45867	N	0.000321	T	0.38558	0.1045	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	D	0.67548	0.952	T	0.39035	-0.9633	10	0.33940	T	0.23	-25.4788	11.839	0.52342	0.0:0.5586:0.0:0.4414	.	233	Q5SRE5	NU188_HUMAN	F	122;233	ENSP00000361658:L233F	ENSP00000349125:L122F	L	+	1	0	NUP188	130770717	0.007000	0.16637	0.000000	0.03702	0.644000	0.38419	0.153000	0.16323	-0.855000	0.04125	-0.213000	0.12676	CTT		0.428	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			98	444	0	0	0	1	0	98	444				
CEACAM5	1048	broad.mit.edu	37	19	42222194	42222194	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42222194T>A	ENST00000221992.6	+	6	1499	c.1385T>A	c.(1384-1386)cTc>cAc	p.L462H	CEACAM5_ENST00000398599.4_Missense_Mutation_p.L461H|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	462	Ig-like 5.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACAAGAGCTCTTTATCTCC	0.517																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1384-1386)cTc>cAc		carcinoembryonic antigen-related cell adhesion molecule 5							128.0	103.0	111.0					19																	42222194		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42222194T>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1385T>A	19.37:g.42222194T>A	ENSP00000221992:p.Leu462His					CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L461H	p.L462H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	6	1499	+			462			Ig-like 5.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1385T>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.367673	0.42003	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	D;D	0.89415	-2.51;-2.51	2.39	2.39	0.29439	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96599	0.8890	H	0.99863	4.86	0.19300	N	0.999978	P;D	0.76494	0.921;0.999	D;D	0.74674	0.936;0.984	D	0.87983	0.2744	9	0.87932	D	0	.	6.7185	0.23316	0.0:0.0:0.0:1.0	.	462;462	P06731;Q53G30	CEAM5_HUMAN;.	H	462;462;180	ENSP00000221992:L462H;ENSP00000385072:L462H	ENSP00000221992:L462H	L	+	2	0	CEACAM5	46914034	0.022000	0.18835	0.433000	0.26760	0.046000	0.14306	1.093000	0.30939	1.361000	0.45981	0.433000	0.28618	CTC		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		90	358	0	0	0	1	0	90	358				
ICK	22858	broad.mit.edu	37	6	52895864	52895864	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52895864G>A	ENST00000350082.5	-	5	703	c.357C>T	c.(355-357)caC>caT	p.H119H	ICK_ENST00000356971.3_Splice_Site_p.H119H	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.			H -> L (in Ref. 1; AAF37278). {ECO:0000305}.	intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					ATCACCTACCGTGTTTGTGAA	0.368																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e6+1		intestinal cell (MAK-like) kinase							98.0	84.0	89.0					6																	52895864		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52895864G>A	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.358+1C>T	6.37:g.52895864G>A						ICK_ENST00000350082.5_Splice_Site_p.H119_splice	p.H119_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			6	846	-	Lung NSC(77;0.103)		119	H -> L (in Ref. 1; AAF37278).		Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	SNP	ENST00000350082.5	37	c.358_splice	CCDS4949.1																																																																																				0.368	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Silent	58	233	0	0	0	1	0	58	233				
LRRC75A	388341	broad.mit.edu	37	17	16365615	16365615	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16365615T>G	ENST00000409083.3	-	2	494	c.332A>C	c.(331-333)gAc>gCc	p.D111A	C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.D111A|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						GATGATGAGGTCGTGTGTGAT	0.627																																						ENST00000409083.3																			0				lung(1)	1						c.(331-333)gAc>gCc		family with sequence similarity 211, member A							186.0	139.0	155.0					17																	16365615		2203	4300	6503	SO:0001583	missense	388341							g.chr17:16365615T>G																												ENST00000409083.3:c.332A>C	17.37:g.16365615T>G	ENSP00000386504:p.Asp111Ala					C17orf76-AS1_ENST00000478103.2_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.D111A|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA	p.D111A	NM_207387.3	NP_997270.2	Q8NAA5	CQ076_HUMAN			2	494	-			111						Missense_Mutation	SNP	ENST00000409083.3	37	c.332A>C	CCDS11178.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467571	0.84533	.	.	ENSG00000181350	ENST00000409083;ENST00000470794	T	0.58060	0.36	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	L	0.57536	1.79	0.48511	D	0.999669	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.951	T	0.69815	-0.5043	10	0.87932	D	0	.	11.5248	0.50573	0.0:0.0:0.0:1.0	.	111;111	Q8NAA5;Q8NAA5-2	CQ076_HUMAN;.	A	111	ENSP00000419502:D111A	ENSP00000386504:D111A	D	-	2	0	C17orf76	16306340	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.285000	0.78660	1.912000	0.55364	0.402000	0.26972	GAC		0.627	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			19	158	0	0	0	1	0	19	158				
ABAT	18	broad.mit.edu	37	16	8829607	8829607	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8829607T>G	ENST00000396600.2	+	2	949	c.11T>G	c.(10-12)aTg>aGg	p.M4R	ABAT_ENST00000425191.2_Missense_Mutation_p.M4R|ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000268251.8_Missense_Mutation_p.M4R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	4					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGCCTCCATGTTGCTCGCC	0.587																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(10-12)aTg>aGg		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						38.0	29.0	32.0					16																	8829607		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8829607T>G	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.11T>G	16.37:g.8829607T>G	ENSP00000379845:p.Met4Arg					ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000268251.8_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000425191.2_Missense_Mutation_p.M4R	p.M4R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			2	949	+			4					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.11T>G	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110442	0.20714	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.81739	-1.53;-1.53;-1.53	4.1	2.99	0.34606	.	0.314257	0.35615	N	0.003093	T	0.69771	0.3148	L	0.36672	1.1	0.28748	N	0.901563	B	0.02656	0.0	B	0.01281	0.0	T	0.64317	-0.6436	10	0.62326	D	0.03	-2.3346	8.544	0.33410	0.0:0.0:0.2275:0.7725	.	4	P80404	GABT_HUMAN	R	4	ENSP00000268251:M4R;ENSP00000379845:M4R;ENSP00000411916:M4R	ENSP00000268251:M4R	M	+	2	0	ABAT	8737108	0.998000	0.40836	0.855000	0.33649	0.299000	0.27559	1.916000	0.39986	0.781000	0.33589	0.529000	0.55759	ATG		0.587	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		14	54	0	0	0	1	0	14	54				
PRKCG	5582	broad.mit.edu	37	19	54401709	54401709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54401709C>T	ENST00000263431.3	+	11	1390	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GCTGGCCGAGCGCAGGGGCTC	0.577																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1108-1110)Cgc>Tgc		protein kinase C, gamma							59.0	54.0	56.0					19																	54401709		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401709C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1108C>T	19.37:g.54401709C>T	ENSP00000263431:p.Arg370Cys					PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C	p.R370C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	11	1390	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		370			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1108C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224028	0.79576	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.66995	-0.24;-0.24;-0.24	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.68696	0.3029	L	0.31476	0.935	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.997	P;P;P	0.61800	0.894;0.819;0.887	T	0.71523	-0.4567	9	0.87932	D	0	.	11.434	0.50058	0.1803:0.8197:0.0:0.0	.	257;370;370	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	C	370;370;257	ENSP00000443493:R370C;ENSP00000263431:R370C;ENSP00000438090:R257C	ENSP00000263431:R370C	R	+	1	0	PRKCG	59093521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.669000	0.37492	2.528000	0.85240	0.561000	0.74099	CGC		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		11	304	0	0	0	1	0	11	304				
ECE1	1889	broad.mit.edu	37	1	21553685	21553685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21553685C>T	ENST00000374893.6	-	16	1890	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S	ECE1_ENST00000415912.2_Missense_Mutation_p.G590S|ECE1_ENST00000436918.2_Missense_Mutation_p.G606S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S|ECE1_ENST00000357071.4_Missense_Mutation_p.G594S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	606					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGCTCATGGCCCACGACGACA	0.507																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1768-1770)Ggc>Agc		endothelin converting enzyme 1							156.0	126.0	136.0					1																	21553685		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21553685C>T	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1816G>A	1.37:g.21553685C>T	ENSP00000364028:p.Gly606Ser					ECE1_ENST00000374893.6_Missense_Mutation_p.G606S|ECE1_ENST00000436918.2_Missense_Mutation_p.G606S|ECE1_ENST00000357071.4_Missense_Mutation_p.G594S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S	p.G590S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	16	1893	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	606					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1768G>A	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427961	0.96131	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.15	5.15	0.70609	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.93854	3.465	0.80722	D	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;0.997;0.999;0.991;0.995	D	0.96328	0.9241	10	0.87932	D	0	-35.2293	17.5678	0.87924	0.0:1.0:0.0:0.0	.	606;590;606;594;603	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	590;594;606;606;603	ENSP00000405088:G590S;ENSP00000349581:G594S;ENSP00000364028:G606S;ENSP00000388439:G606S;ENSP00000264205:G603S	ENSP00000264205:G603S	G	-	1	0	ECE1	21426272	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.412000	0.80091	2.556000	0.86216	0.555000	0.69702	GGC		0.507	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		20	286	0	0	0	1	0	20	286				
UBR2	23304	broad.mit.edu	37	6	42658801	42658801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42658801C>T	ENST00000372899.1	+	47	5416	c.5158C>T	c.(5158-5160)Cga>Tga	p.R1720*	UBR2_ENST00000372901.1_Nonsense_Mutation_p.R1720*|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1720					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGCAAAGAGCGATTCAAGAA	0.438																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(5158-5160)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 2							104.0	101.0	102.0					6																	42658801		2203	4300	6503	SO:0001587	stop_gained	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42658801C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5158C>T	6.37:g.42658801C>T	ENSP00000361990:p.Arg1720*					UBR2_ENST00000372901.1_Nonsense_Mutation_p.R1720*|UBR2_ENST00000372883.3_3'UTR	p.R1720*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		47	5416	+	Colorectal(47;0.196)		1720					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	37	c.5158C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	47	12.963440	0.99709	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2902	20.3277	0.98707	0.0:1.0:0.0:0.0	.	.	.	.	X	1720	.	ENSP00000361990:R1720X	R	+	1	2	UBR2	42766779	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.985000	0.70556	2.879000	0.98667	0.650000	0.86243	CGA		0.438	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		70	391	0	0	0	1	0	70	391				
ELMO1	9844	broad.mit.edu	37	7	36895162	36895162	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36895162A>G	ENST00000310758.4	-	22	2825	c.2178T>C	c.(2176-2178)tgT>tgC	p.C726C	ELMO1_ENST00000396045.3_Silent_p.C246C|ELMO1_ENST00000442504.1_Silent_p.C726C|ELMO1_ENST00000341056.3_Silent_p.C428C|ELMO1_ENST00000396040.2_Silent_p.C246C|ELMO1_ENST00000448602.1_Silent_p.C726C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	726					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CACTTCAGTTACAGTCATAGA	0.542																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(2176-2178)tgT>tgC		engulfment and cell motility 1							112.0	114.0	113.0					7																	36895162		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36895162A>G	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2178T>C	7.37:g.36895162A>G						ELMO1_ENST00000442504.1_Silent_p.C726C|ELMO1_ENST00000396040.2_Silent_p.C246C|ELMO1_ENST00000448602.1_Silent_p.C726C|ELMO1_ENST00000396045.3_Silent_p.C246C|ELMO1_ENST00000341056.3_Silent_p.C428C	p.C726C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			22	2825	-			726					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.2178T>C	CCDS5449.1																																																																																				0.542	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		23	571	0	0	0	1	0	23	571				
PCDHB14	56122	broad.mit.edu	37	5	140603244	140603244	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603244T>C	ENST00000239449.4	+	1	167	c.167T>C	c.(166-168)gTg>gCg	p.V56A	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTGGGGGTGGAGGAGCTG	0.473																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(166-168)gTg>gCg									86.0	89.0	88.0					5																	140603244		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603244T>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.167T>C	5.37:g.140603244T>C	ENSP00000239449:p.Val56Ala					PCDHB14_ENST00000515856.2_Intron	p.V56A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	167	+			56			Cadherin 1.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.167T>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.03	1.237733	0.22711	.	.	ENSG00000120327	ENST00000239449	T	0.29655	1.56	4.93	4.93	0.64822	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.29491	0.0735	M	0.64170	1.965	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.07809	-1.0753	9	0.20046	T	0.44	.	10.1776	0.42948	0.0:0.0814:0.0:0.9186	.	56	Q9Y5E9	PCDBE_HUMAN	A	56	ENSP00000239449:V56A	ENSP00000239449:V56A	V	+	2	0	PCDHB14	140583428	0.042000	0.20092	0.216000	0.23742	0.715000	0.41141	1.765000	0.38481	1.974000	0.57490	0.533000	0.62120	GTG		0.473	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		71	283	0	0	0	1	0	71	283				
TRAPPC5	126003	broad.mit.edu	37	19	7747600	7747600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7747600G>A	ENST00000317378.5	+	2	648	c.461G>A	c.(460-462)aGc>aAc	p.S154N	TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	154					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						CTCACACACAGCGGCTTCCCT	0.642																																						ENST00000317378.5																			0				NS(1)|lung(2)	3						c.(460-462)aGc>aAc		trafficking protein particle complex 5							26.0	30.0	29.0					19																	7747600		2182	4264	6446	SO:0001583	missense	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747600G>A	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.461G>A	19.37:g.7747600G>A	ENSP00000316990:p.Ser154Asn					TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N	p.S154N	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN			2	648	+			154					A8K7I6	Missense_Mutation	SNP	ENST00000317378.5	37	c.461G>A	CCDS42490.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041884	0.75732	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.43688	0.94;0.94	3.93	3.93	0.45458	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.57140	0.2033	M	0.85299	2.745	0.47511	D	0.99944	P	0.48640	0.913	P	0.49953	0.627	T	0.67405	-0.5679	10	0.72032	D	0.01	-10.8396	13.4726	0.61290	0.0:0.0:1.0:0.0	.	154	Q8IUR0	TPPC5_HUMAN	N	154	ENSP00000316990:S154N;ENSP00000399025:S154N	ENSP00000316990:S154N	S	+	2	0	TRAPPC5	7653600	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.357000	0.79456	1.767000	0.52121	0.306000	0.20318	AGC		0.642	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		19	117	0	0	0	1	0	19	117				
ZNF516	9658	broad.mit.edu	37	18	74153437	74153437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74153437C>T	ENST00000443185.2	-	3	1891	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGATAGGTGCGGAAGATCTT	0.716																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1573-1575)cGc>cAc		zinc finger protein 516							8.0	9.0	9.0					18																	74153437		2057	4158	6215	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153437C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1574G>A	18.37:g.74153437C>T	ENSP00000394757:p.Arg525His					ZNF516_ENST00000524431.2_5'UTR	p.R525H	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1891	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	525						Missense_Mutation	SNP	ENST00000443185.2	37	c.1574G>A		.	.	.	.	.	.	.	.	.	.	C	25.5	4.645577	0.87859	.	.	ENSG00000101493	ENST00000443185	T	0.29142	1.58	5.21	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.58278	0.2111	.	.	.	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.65721	-0.6099	9	0.72032	D	0.01	-61.0823	15.6856	0.77409	0.0:0.8623:0.1376:0.0	.	525	Q92618	ZN516_HUMAN	H	525	ENSP00000394757:R525H	ENSP00000394757:R525H	R	-	2	0	ZNF516	72282425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	1.253000	0.44018	0.655000	0.94253	CGC		0.716	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		10	64	0	0	0	1	0	10	64				
ERICH1	157697	broad.mit.edu	37	8	623821	623821	+	Silent	SNP	G	G	T	rs61743225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623821G>T	ENST00000262109.7	-	4	608	c.531C>A	c.(529-531)gcC>gcA	p.A177A	ERICH1_ENST00000522706.1_Silent_p.A83A|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	177										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGCCAAGCCGGCTGCTTTCT	0.483																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(529-531)gcC>gcA		glutamate-rich 1							70.0	73.0	72.0					8																	623821		2203	4300	6503	SO:0001819	synonymous_variant	157697							g.chr8:623821G>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.531C>A	8.37:g.623821G>T						ERICH1_ENST00000522706.1_Silent_p.A83A	p.A177A	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	608	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	177					A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	c.531C>A	CCDS5955.1																																																																																				0.483	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		18	500	1	0	5.01169e-05	1	5.1097e-05	18	500				
DDX47	51202	broad.mit.edu	37	12	12974954	12974954	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974954A>C	ENST00000358007.3	+	5	520	c.498A>C	c.(496-498)agA>agC	p.R166S	DDX47_ENST00000352940.4_Missense_Mutation_p.R166S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	166	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCAACTTGAGAGCTCTCAAAT	0.428																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(496-498)agA>agC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							93.0	88.0	90.0					12																	12974954		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974954A>C	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.498A>C	12.37:g.12974954A>C	ENSP00000350698:p.Arg166Ser					DDX47_ENST00000352940.4_Missense_Mutation_p.R166S|RP11-59H1.3_ENST00000534843.1_3'UTR	p.R166S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	5	520	+		Prostate(47;0.0526)	166			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.498A>C	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.205868	0.58234	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.12672	2.66;2.66;2.66	5.95	5.95	0.96441	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.04162	-0.26	0.58432	D	0.999999	B;B;B	0.27559	0.004;0.003;0.181	B;B;B	0.36335	0.02;0.012;0.222	T	0.12400	-1.0549	10	0.02654	T	1	-22.6156	16.4323	0.83853	1.0:0.0:0.0:0.0	.	166;166;166	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	S	166;166;103	ENSP00000319578:R166S;ENSP00000350698:R166S;ENSP00000444000:R103S	ENSP00000319578:R166S	R	+	3	2	DDX47	12866221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.358000	0.59442	2.281000	0.76405	0.528000	0.53228	AGA		0.428	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		53	275	0	0	0	1	0	53	275				
KCNH8	131096	broad.mit.edu	37	3	19389273	19389273	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19389273G>A	ENST00000328405.2	+	5	893	c.627G>A	c.(625-627)aaG>aaA	p.K209K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	209					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.K209K(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATGCAAAAAAGTCCAAATTCA	0.373																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			1	Substitution - coding silent(1)	p.K209K(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(625-627)aaG>aaA		potassium voltage-gated channel, subfamily H (eag-related), member 8							147.0	136.0	140.0					3																	19389273		2203	4299	6502	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19389273G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.627G>A	3.37:g.19389273G>A						KCNH8_ENST00000475063.1_3'UTR	p.K209K	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			5	893	+			209					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.627G>A	CCDS2632.1																																																																																				0.373	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		136	498	0	0	0	1	0	136	498				
PCDHB1	29930	broad.mit.edu	37	5	140431560	140431560	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431560A>C	ENST00000306549.3	+	1	582	c.505A>C	c.(505-507)Aac>Cac	p.N169H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTCTCCAGAACTACACCCT	0.567																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(505-507)Aac>Cac									50.0	51.0	51.0					5																	140431560		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431560A>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.505A>C	5.37:g.140431560A>C	ENSP00000307234:p.Asn169His						p.N169H	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	582	+			169			Cadherin 2.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.505A>C	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271842	0.40194	.	.	ENSG00000171815	ENST00000306549	T	0.51325	0.71	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000086	T	0.46405	0.1391	M	0.61703	1.905	0.27636	N	0.947887	B	0.28128	0.201	B	0.27608	0.081	T	0.51608	-0.8684	10	0.66056	D	0.02	.	11.6893	0.51505	0.868:0.0:0.0:0.132	.	169	Q9Y5F3	PCDB1_HUMAN	H	169	ENSP00000307234:N169H	ENSP00000307234:N169H	N	+	1	0	PCDHB1	140411744	0.003000	0.15002	0.983000	0.44433	0.711000	0.40976	2.181000	0.42547	2.333000	0.79357	0.533000	0.62120	AAC		0.567	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	313	0	0	0	1	0	6	313				
SOBP	55084	broad.mit.edu	37	6	107955830	107955830	+	Silent	SNP	C	C	T	rs375402260		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955830C>T	ENST00000317357.5	+	6	2441	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGTCCAAGTCCGCGGACTCGC	0.756																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1780-1782)tcC>tcT		sine oculis binding protein homolog (Drosophila)		A		0,3492		0,0,1746	6.0	7.0	6.0		1782	-0.5	1.0	6		6	1,7817		0,1,3908	no	coding-synonymous	SOBP	NM_018013.3		0,1,5654	TT,TC,CC		0.0128,0.0,0.0088		594/874	107955830	1,11309	1746	3909	5655	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107955830C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1782C>T	6.37:g.107955830C>T							p.S594S	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2441	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	594						Silent	SNP	ENST00000317357.5	37	c.1782C>T	CCDS43488.1																																																																																				0.756	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		23	69	0	0	0	1	0	23	69				
OVCA2	124641	broad.mit.edu	37	17	1946353	1946353	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000263083.6_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										CAGCTGCACCCCAGCGTCAGG	0.562											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1																			0											c.(637-639)ccC>ccA		ovarian tumor suppressor candidate 2							70.0	78.0	76.0					17																	1946353		2203	4300	6503	SO:0001819	synonymous_variant	124641				response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1946353C>A	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"""candidate tumor suppressor in ovarian cancer 2"""	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.639C>A	17.37:g.1946353C>A			OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	599	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	p.P213P	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN			2	654	+			213					Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	ENST00000572195.1	37	c.639C>A	CCDS11015.1																																																																																				0.562	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	NM_080822		25	502	1	0	6.32553e-13	1	6.81307e-13	25	502				
CLIC6	54102	broad.mit.edu	37	21	36088748	36088748	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:36088748G>A	ENST00000360731.3	+	7	2083	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	695	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATTGAACACGCATATTCAGA	0.378																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(2083-2085)Gca>Aca		chloride intracellular channel 6							118.0	114.0	115.0					21																	36088748		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36088748G>A	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2083G>A	21.37:g.36088748G>A	ENSP00000353959:p.Ala695Thr					CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T	p.A695T			Q96NY7	CLIC6_HUMAN			7	2083	+			695			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.2083G>A		.	.	.	.	.	.	.	.	.	.	G	22.8	4.339592	0.81911	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	5.85	5.85	0.93711	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.96494	0.9366	10	0.59425	D	0.04	-12.539	20.1542	0.98100	0.0:0.0:1.0:0.0	.	695;677	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	T	695;677	ENSP00000353959:A695T;ENSP00000290332:A677T	ENSP00000290332:A677T	A	+	1	0	CLIC6	35010618	1.000000	0.71417	0.270000	0.24601	0.967000	0.64934	9.835000	0.99442	2.767000	0.95098	0.563000	0.77884	GCA		0.378	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			87	228	0	0	0	1	0	87	228				
MTF2	22823	broad.mit.edu	37	1	93586135	93586135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93586135A>C	ENST00000370298.4	+	9	1116	c.827A>C	c.(826-828)aAc>aCc	p.N276T	MTF2_ENST00000370303.4_Missense_Mutation_p.N276T|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T|MTF2_ENST00000471953.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	276					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGCCTTTACAACCTAAGTGTT	0.343																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(826-828)aAc>aCc		metal response element binding transcription factor 2							140.0	141.0	140.0					1																	93586135		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93586135A>C	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.827A>C	1.37:g.93586135A>C	ENSP00000359321:p.Asn276Thr					MTF2_ENST00000471953.1_Intron|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T|MTF2_ENST00000370303.4_Missense_Mutation_p.N276T	p.N276T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	9	1116	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	276					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.827A>C	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710211	0.89018	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.83312	2.635	0.80722	D	1	P;D	0.56968	0.931;0.978	P;P	0.58013	0.766;0.831	T	0.21586	-1.0241	10	0.72032	D	0.01	-5.9945	16.2484	0.82467	1.0:0.0:0.0:0.0	.	276;276	B1AKT6;Q9Y483	.;MTF2_HUMAN	T	174;174;276;174;276	ENSP00000444962:N174T;ENSP00000443295:N174T;ENSP00000359321:N276T;ENSP00000359326:N276T	ENSP00000359321:N276T	N	+	2	0	MTF2	93358723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.057000	0.93889	2.291000	0.77112	0.533000	0.62120	AAC		0.343	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		60	262	0	0	0	1	0	60	262				
FMN2	56776	broad.mit.edu	37	1	240255963	240255963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240255963G>A	ENST00000319653.9	+	1	784	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	185					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GACATCTATAGCTTCCATTCG	0.627																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(553-555)aGc>aAc		formin 2							72.0	71.0	72.0					1																	240255963		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255963G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.554G>A	1.37:g.240255963G>A	ENSP00000318884:p.Ser185Asn						p.S185N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	784	+	Ovarian(103;0.127)	all_cancers(173;0.013)	185					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.554G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527126	0.44969	.	.	ENSG00000155816	ENST00000319653	T	0.61274	0.12	3.68	3.68	0.42216	.	0.000000	0.64402	D	0.000001	T	0.72637	0.3485	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77542	-0.2549	10	0.87932	D	0	.	15.9248	0.79609	0.0:0.0:1.0:0.0	.	185	Q9NZ56	FMN2_HUMAN	N	185	ENSP00000318884:S185N	ENSP00000318884:S185N	S	+	2	0	FMN2	238322586	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	8.614000	0.90917	2.046000	0.60703	0.313000	0.20887	AGC		0.627	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	321	0	0	0	1	0	7	321				
HSPA9	3313	broad.mit.edu	37	5	137906735	137906735	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137906735C>A	ENST00000297185.3	-	4	449	c.324G>T	c.(322-324)caG>caT	p.Q108H		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	108					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.Q108Q(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTGACAGCCTGTCGCTTGG	0.498																																						ENST00000297185.3																			1	Substitution - coding silent(1)	p.Q108Q(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(322-324)caG>caT		heat shock 70kDa protein 9 (mortalin)							109.0	99.0	102.0					5																	137906735		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137906735C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.324G>T	5.37:g.137906735C>A	ENSP00000297185:p.Gln108His						p.Q108H	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	449	-			108					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.324G>T	CCDS4208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.50|19.50	3.839122|3.839122	0.71373|0.71373	.|.	.|.	ENSG00000113013|ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886|ENST00000541333	T;T;T|.	0.01203|.	5.18;5.18;5.18|.	5.34|5.34	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87346|0.87346	0.6154|0.6154	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.993|.	D|D	0.88796|0.88796	0.3281|0.3281	10|6	0.87932|0.72032	D|D	0|0.01	-10.1034|-10.1034	10.3089|10.3089	0.43697|0.43697	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	39;108|.	B7Z1V7;P38646|.	.;GRP75_HUMAN|.	H|M	108;94;39;39|78	ENSP00000297185:Q108H;ENSP00000425598:Q39H;ENSP00000423098:Q39H|.	ENSP00000297185:Q108H|ENSP00000438817:R78M	Q|R	-|-	3|2	2|0	HSPA9|HSPA9	137934634|137934634	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.649000|0.649000	0.24843|0.24843	0.726000|0.726000	0.32339|0.32339	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.498	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		24	507	1	0	2.39556e-15	1	2.61601e-15	24	507				
DSCAM	1826	broad.mit.edu	37	21	41385243	41385243	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41385243G>A	ENST00000400454.1	-	33	6234	c.5757C>T	c.(5755-5757)agC>agT	p.S1919S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1919				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAGGTCCCTGCTGGTGCCTG	0.542																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5755-5757)agC>agT		Down syndrome cell adhesion molecule							53.0	53.0	53.0					21																	41385243		1977	4152	6129	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385243G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5757C>T	21.37:g.41385243G>A							p.S1919S	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6234	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1919	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Silent	SNP	ENST00000400454.1	37	c.5757C>T	CCDS42929.1																																																																																				0.542	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	275	0	0	0	1	0	14	275				
PRKCI	5584	broad.mit.edu	37	3	170002313	170002313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170002313G>A	ENST00000295797.4	+	12	1437	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AATTTATAGAGATTTGAAACT	0.308																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1132-1134)Gat>Aat		protein kinase C, iota							60.0	61.0	61.0					3																	170002313		2203	4299	6502	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170002313G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1132G>A	3.37:g.170002313G>A	ENSP00000295797:p.Asp378Asn						p.D378N	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		12	1437	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		378			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1132G>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	33	5.260702	0.95368	.	.	ENSG00000163558	ENST00000295797	D	0.92965	-3.14	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96915	0.9670	9	.	.	.	.	19.4109	0.94671	0.0:0.0:1.0:0.0	.	378	P41743	KPCI_HUMAN	N	378	ENSP00000295797:D378N	.	D	+	1	0	PRKCI	171485007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.368000	0.97152	2.642000	0.89623	0.650000	0.86243	GAT		0.308	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		14	252	0	0	0	1	0	14	252				
ACSS3	79611	broad.mit.edu	37	12	81536950	81536950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81536950C>T	ENST00000548058.1	+	5	1755	c.845C>T	c.(844-846)tCa>tTa	p.S282L	ACSS3_ENST00000261206.3_Missense_Mutation_p.S281L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	282						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAAGCCCAGTCACATGACTGT	0.438																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(844-846)tCa>tTa		acyl-CoA synthetase short-chain family member 3							130.0	117.0	122.0					12																	81536950		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81536950C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.845C>T	12.37:g.81536950C>T	ENSP00000449535:p.Ser282Leu					ACSS3_ENST00000261206.3_Missense_Mutation_p.S281L	p.S282L			Q9H6R3	ACSS3_HUMAN			5	1755	+			282					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.845C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293466	0.80914	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.10288	2.89;2.89	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.166220	0.56097	D	0.000033	T	0.09423	0.0232	N	0.21142	0.635	0.80722	D	1	P	0.43231	0.801	B	0.38106	0.265	T	0.06679	-1.0813	10	0.59425	D	0.04	-9.6296	16.441	0.83901	0.0:0.8602:0.1398:0.0	.	282	Q9H6R3	ACSS3_HUMAN	L	282;281	ENSP00000449535:S282L;ENSP00000261206:S281L	ENSP00000261206:S281L	S	+	2	0	ACSS3	80061081	0.666000	0.27475	0.998000	0.56505	0.994000	0.84299	2.658000	0.46733	2.797000	0.96272	0.561000	0.74099	TCA		0.438	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		7	268	0	0	0	1	0	7	268				
ATP8B3	148229	broad.mit.edu	37	19	1796824	1796824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1796824C>T	ENST00000310127.6	-	16	1877	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T|ATP8B3_ENST00000539485.1_Missense_Mutation_p.A547T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	547					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGGCCGCATTGTGGAAG	0.706																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1639-1641)Gcg>Acg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							30.0	36.0	34.0					19																	1796824		2069	4177	6246	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1796824C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1639G>A	19.37:g.1796824C>T	ENSP00000311336:p.Ala547Thr					ATP8B3_ENST00000310127.6_Missense_Mutation_p.A547T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T	p.A547T			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	1872	-		Hepatocellular(1079;0.137)	547					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1639G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273873	0.23221	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.64085	-0.08;-0.08;-0.08	3.63	-7.26	0.01466	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.801560	0.03175	U	0.171296	T	0.40398	0.1115	L	0.39692	1.235	0.09310	N	1	P;B	0.39352	0.669;0.27	B;B	0.34931	0.192;0.192	T	0.45323	-0.9269	10	0.17832	T	0.49	.	0.5644	0.00684	0.3518:0.1859:0.2576:0.2047	.	547;500	O60423;Q7Z485	AT8B3_HUMAN;.	T	547;547;500	ENSP00000311336:A547T;ENSP00000443574:A547T;ENSP00000437115:A500T	ENSP00000311336:A547T	A	-	1	0	ATP8B3	1747824	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.078000	0.00299	-2.174000	0.00772	-0.258000	0.10820	GCG		0.706	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		37	156	0	0	0	1	0	37	156				
PPP2R3A	5523	broad.mit.edu	37	3	135721855	135721855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135721855C>A	ENST00000264977.3	+	2	2132	c.1515C>A	c.(1513-1515)agC>agA	p.S505R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	505					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTCCAGTAGCCAGGAAGAGA	0.343																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1513-1515)agC>agA		protein phosphatase 2, regulatory subunit B'', alpha							50.0	55.0	53.0					3																	135721855		2199	4294	6493	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721855C>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1515C>A	3.37:g.135721855C>A	ENSP00000264977:p.Ser505Arg					PPP2R3A_ENST00000490467.1_Intron	p.S505R	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2132	+			505					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1515C>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534559	0.04082	.	.	ENSG00000073711	ENST00000264977	T	0.05513	3.43	5.29	1.53	0.23141	.	0.437967	0.27627	N	0.018532	T	0.05090	0.0136	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37596	-0.9699	10	0.35671	T	0.21	.	7.1396	0.25548	0.0:0.4198:0.0:0.5802	.	505	Q06190	P2R3A_HUMAN	R	505	ENSP00000264977:S505R	ENSP00000264977:S505R	S	+	3	2	PPP2R3A	137204545	1.000000	0.71417	0.992000	0.48379	0.335000	0.28730	0.642000	0.24735	0.373000	0.24621	0.563000	0.77884	AGC		0.343	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		71	312	1	0	6.5469e-37	1	7.85029e-37	71	312				
IDI1	3422	broad.mit.edu	37	10	1088604	1088604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1088604G>A	ENST00000381344.3	-	4	671	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	112	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TCAGCTTTCAGCCGTCTCTGT	0.443																																						ENST00000381344.3																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(505-507)Ctg>Ttg		isopentenyl-diphosphate delta isomerase 1							102.0	92.0	96.0					10																	1088604		2203	4300	6503	SO:0001819	synonymous_variant	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1088604G>A	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.505C>T	10.37:g.1088604G>A						IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	p.L169L	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	4	671	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	112			Nudix hydrolase.		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Silent	SNP	ENST00000381344.3	37	c.505C>T	CCDS7056.1																																																																																				0.443	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		58	283	0	0	0	1	0	58	283				
CAMK1	8536	broad.mit.edu	37	3	9807492	9807492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807492G>T	ENST00000256460.3	-	3	343	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	OGG1_ENST00000383826.5_Splice_Site|OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000349503.5_Splice_Site|OGG1_ENST00000449570.2_Splice_Site|OGG1_ENST00000302036.7_Splice_Site	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTGCCCTCCAGGGCCTCCTTG	0.597																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(166-168)Ctg>Atg		calcium/calmodulin-dependent protein kinase I							75.0	69.0	71.0					3																	9807492		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9807492G>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.166C>A	3.37:g.9807492G>T	ENSP00000256460:p.Leu56Met					OGG1_ENST00000349503.5_Splice_Site|OGG1_ENST00000302036.7_Splice_Site|OGG1_ENST00000449570.2_Splice_Site|OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000383826.5_Splice_Site	p.L56M	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	3	343	-	Medulloblastoma(99;0.227)		56			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.166C>A	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.492059|3.492059	0.64074|0.64074	.|.	.|.	ENSG00000114026|ENSG00000134072	ENST00000302036;ENST00000349503;ENST00000302008;ENST00000383826;ENST00000352937|ENST00000256460	.|T	.|0.65549	.|-0.16	4.87|4.87	3.02|3.02	0.34903|0.34903	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.70193	.|0.3196	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.69479	.|0.964	.|T	.|0.68830	.|-0.5305	.|10	.|0.39692	.|T	.|0.17	.|-9.6405	11.8014|11.8014	0.52128|0.52128	0.1533:0.0:0.8467:0.0|0.1533:0.0:0.8467:0.0	.|.	.|56	.|Q14012	.|KCC1A_HUMAN	.|M	-1|56	.|ENSP00000256460:L56M	.|ENSP00000256460:L56M	.|L	+|-	.|1	.|2	OGG1|CAMK1	9782492|9782492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.123000|3.123000	0.50453|0.50453	1.170000|1.170000	0.42753|0.42753	0.455000|0.455000	0.32223|0.32223	.|CTG		0.597	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		35	293	1	0	3.03874e-20	1	3.40186e-20	35	293				
DIO3	1735	broad.mit.edu	37	14	102028265	102028265	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028265C>T	ENST00000510508.4	+	1	578	c.432C>T	c.(430-432)gaC>gaT	p.D144D	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.D118D			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	144					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTCTGCCCGACGGCTTCCAGA	0.637																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(352-354)gaC>gaT		deiodinase, iodothyronine, type III							40.0	45.0	43.0					14																	102028265		2040	4185	6225	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028265C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.432C>T	14.37:g.102028265C>T						DIO3_ENST00000510508.4_Silent_p.D144D	p.D118D	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	578	+		all_neural(303;0.185)	118					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.354C>T	CCDS41992.2																																																																																				0.637	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		89	400	0	0	0	1	0	89	400				
ALPK3	57538	broad.mit.edu	37	15	85382963	85382963	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85382963G>A	ENST00000258888.5	+	5	1226	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	353	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCATCTACCAGGCCTCTGCCC	0.627																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1057-1059)caG>caA		alpha-kinase 3							80.0	73.0	75.0					15																	85382963		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85382963G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1059G>A	15.37:g.85382963G>A							p.Q353Q	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1226	+			353			Ig-like 1.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.1059G>A	CCDS10333.1																																																																																				0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		7	429	0	0	0	1	0	7	429				
ACTR5	79913	broad.mit.edu	37	20	37394145	37394145	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37394145C>T	ENST00000243903.4	+	6	1314	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	426					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTGGAGAAGCCGGTCACCACT	0.473																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1276-1278)cCg>cTg		ARP5 actin-related protein 5 homolog (yeast)							131.0	134.0	133.0					20																	37394145		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37394145C>T	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1277C>T	20.37:g.37394145C>T	ENSP00000243903:p.Pro426Leu						p.P426L	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			6	1314	+		Myeloproliferative disorder(115;0.00878)	426					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.1277C>T	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087033	0.76642	.	.	ENSG00000101442	ENST00000243903	D	0.96265	-3.96	5.13	5.13	0.70059	.	0.216243	0.47852	D	0.000202	D	0.97368	0.9139	M	0.71871	2.18	0.58432	D	0.999998	D	0.76494	0.999	P	0.59595	0.86	D	0.97583	1.0112	10	0.56958	D	0.05	-15.2555	17.1119	0.86678	0.0:1.0:0.0:0.0	.	426	Q9H9F9	ARP5_HUMAN	L	426	ENSP00000243903:P426L	ENSP00000243903:P426L	P	+	2	0	ACTR5	36827559	1.000000	0.71417	0.955000	0.39395	0.906000	0.53458	3.616000	0.54174	2.553000	0.86117	0.455000	0.32223	CCG		0.473	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		99	575	0	0	0	1	0	99	575				
NOTCH3	4854	broad.mit.edu	37	19	15291787	15291787	+	Silent	SNP	C	C	T	rs545858293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15291787C>T	ENST00000263388.2	-	18	3054	c.2979G>A	c.(2977-2979)acG>acA	p.T993T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	993	EGF-like 25. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACTGCGGGCCCGTGAAGCTCT	0.682																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2977-2979)acG>acA		notch 3							10.0	11.0	11.0					19																	15291787		2183	4277	6460	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15291787C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2979G>A	19.37:g.15291787C>T							p.T993T	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		18	3054	-			993			EGF-like 25.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.2979G>A	CCDS12326.1																																																																																				0.682	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		10	44	0	0	0	1	0	10	44				
MR1	3140	broad.mit.edu	37	1	181021609	181021609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181021609G>A	ENST00000367580.5	+	4	848	c.843G>A	c.(841-843)gaG>gaA	p.E281E	MR1_ENST00000282990.6_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.E236E|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GTCATGTGGAGCACTGCGGTG	0.547																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(841-843)gaG>gaA		major histocompatibility complex, class I-related							60.0	65.0	63.0					1																	181021609		2203	4300	6503	SO:0001819	synonymous_variant	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181021609G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.843G>A	1.37:g.181021609G>A						MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.E236E	p.E281E	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			4	848	+			281			Alpha-3.|Ig-like C1-type.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	c.843G>A	CCDS1342.1																																																																																				0.547	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		31	237	0	0	0	1	0	31	237				
HLA-A	3105	broad.mit.edu	37	6	29911111	29911111	+	Missense_Mutation	SNP	A	A	G	rs199474503		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911111A>G	ENST00000396634.1	+	5	751	c.410A>G	c.(409-411)tAc>tGc	p.Y137C	HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	137	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTCCGCGGGTACCGGCAGGAC	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(409-411)tAc>tGc		major histocompatibility complex, class I, A							33.0	25.0	28.0					6																	29911111		1495	2696	4191	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911111A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.410A>G	6.37:g.29911111A>G	ENSP00000379873:p.Tyr137Cys	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C|HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C	p.Y137C			P30443	1A01_HUMAN			5	751	+			137			Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.410A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.604	1.129503	0.21041	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.01068	5.38;5.38;5.38;5.38	3.78	2.5	0.30297	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.538304	0.13547	U	0.379726	T	0.08537	0.0212	H	0.99887	4.895	0.23751	N	0.996947	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;1.0;1.0;1.0;1.0;1.0;1.0	T	0.37478	-0.9704	10	0.87932	D	0	.	7.6849	0.28534	0.811:0.0:0.0:0.189	.	16;137;137;137;137;137;137	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	C	137	ENSP00000379873:Y137C;ENSP00000366002:Y137C;ENSP00000366005:Y137C;ENSP00000365998:Y137C	ENSP00000348012:Y137C	Y	+	2	0	HLA-A	30019090	0.001000	0.12720	0.757000	0.31301	0.175000	0.22909	0.862000	0.27899	1.710000	0.51325	0.397000	0.26171	TAC		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		26	229	0	0	0	1	0	26	229				
MSRB2	22921	broad.mit.edu	37	10	23409785	23409785	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23409785A>C	ENST00000376510.3	+	5	646	c.543A>C	c.(541-543)aaA>aaC	p.K181N	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	181					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	AACCAAGGAAACACTGACCAT	0.458																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	ENST00000376510.3																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9						c.(541-543)aaA>aaC		methionine sulfoxide reductase B2	L-Methionine(DB00134)						105.0	100.0	102.0					10																	23409785		1999	4151	6150	SO:0001583	missense	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23409785A>C	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.543A>C	10.37:g.23409785A>C	ENSP00000365693:p.Lys181Asn					MSRB2_ENST00000468633.1_3'UTR	p.K181N	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN			5	646	+			181					Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	c.543A>C	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255142	0.39896	.	.	ENSG00000148450	ENST00000376510	T	0.76448	-1.02	5.11	-1.37	0.09056	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.989465	0.08160	U	0.988579	T	0.61286	0.2335	N	0.19112	0.55	0.09310	N	1	B	0.25772	0.134	B	0.28991	0.097	T	0.51268	-0.8727	10	0.59425	D	0.04	2.1645	4.2583	0.10728	0.4603:0.0:0.379:0.1607	.	181	Q9Y3D2	MSRB2_HUMAN	N	181	ENSP00000365693:K181N	ENSP00000365693:K181N	K	+	3	2	MSRB2	23449791	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.456000	0.21859	-0.537000	0.06290	-0.256000	0.11100	AAA		0.458	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		24	112	0	0	0	1	0	24	112				
TDRD6	221400	broad.mit.edu	37	6	46661801	46661801	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46661801T>A	ENST00000316081.6	+	1	5936	c.5936T>A	c.(5935-5937)tTt>tAt	p.F1979Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.F1979Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1979					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAGAAGAATTTGTAGAGTAT	0.388																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5935-5937)tTt>tAt		tudor domain containing 6							117.0	119.0	118.0					6																	46661801		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661801T>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5936T>A	6.37:g.46661801T>A	ENSP00000346065:p.Phe1979Tyr					TDRD6_ENST00000316081.6_Missense_Mutation_p.F1979Y	p.F1979Y	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	6190	+			1979					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.5936T>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432198	0.43122	.	.	ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334	T;T	0.23754	1.89;1.92	5.41	2.87	0.33458	.	1.567150	0.03542	N	0.224098	T	0.20129	0.0484	M	0.63843	1.955	0.09310	N	1	P;P	0.45827	0.867;0.791	P;B	0.49829	0.623;0.419	T	0.13361	-1.0512	10	0.59425	D	0.04	-0.4369	5.8137	0.18479	0.1681:0.0:0.1756:0.6563	.	1979;1979	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1979;1979;40	ENSP00000443299:F1979Y;ENSP00000346065:F1979Y	ENSP00000346065:F1979Y	F	+	2	0	TDRD6	46769760	0.003000	0.15002	0.010000	0.14722	0.076000	0.17211	0.362000	0.20284	0.296000	0.22592	0.455000	0.32223	TTT		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		100	358	0	0	0	1	0	100	358				
CSPP1	79848	broad.mit.edu	37	8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1624-1626)Gta>Ata		centrosome and spindle pole associated protein 1							71.0	65.0	67.0					8																	68030998		1838	4077	5915	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68030998G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1624G>A	8.37:g.68030998G>A	ENSP00000262210:p.Val542Ile					CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	p.V542I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		13	1655	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	577					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1624G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498149	0.12762	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.28	3.42	0.39159	.	0.854677	0.10065	N	0.720405	T	0.24812	0.0602	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B	0.18310	0.001;0.004;0.027;0.027	B;B;B;B	0.13407	0.002;0.004;0.009;0.009	T	0.27262	-1.0079	10	0.30854	T	0.27	-4.8658	7.8446	0.29419	0.1696:0.1339:0.6965:0.0	.	248;542;577;577	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	542;577;248;248	ENSP00000262210:V542I;ENSP00000415782:V248I;ENSP00000430092:V248I	ENSP00000262210:V542I	V	+	1	0	CSPP1	68193552	0.013000	0.17824	0.998000	0.56505	0.956000	0.61745	0.281000	0.18810	0.292000	0.22492	-0.813000	0.03139	GTA		0.308	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		30	157	0	0	0	1	0	30	157				
NCK2	8440	broad.mit.edu	37	2	106498449	106498449	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106498449G>A	ENST00000233154.4	+	4	1334	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	298	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GGCCGAGTGCGCCCTCAACGA	0.672																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(892-894)Gcc>Acc		NCK adaptor protein 2							23.0	26.0	25.0					2																	106498449		2203	4294	6497	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498449G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.892G>A	2.37:g.106498449G>A	ENSP00000233154:p.Ala298Thr					NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T	p.A298T	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			4	1334	+			298			SH2.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.892G>A	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147208	0.57151	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.63255	-0.03;-0.03	5.36	5.36	0.76844	SH2 motif (5);	0.158749	0.53938	D	0.000046	T	0.58293	0.2112	L	0.37507	1.11	0.80722	D	1	P	0.39060	0.657	B	0.39840	0.311	T	0.61143	-0.7122	10	0.52906	T	0.07	-20.2399	19.4433	0.94836	0.0:0.0:1.0:0.0	.	298	O43639	NCK2_HUMAN	T	298	ENSP00000233154:A298T;ENSP00000377018:A298T	ENSP00000233154:A298T	A	+	1	0	NCK2	105864881	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	4.867000	0.63013	2.681000	0.91329	0.462000	0.41574	GCC		0.672	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		24	223	0	0	0	1	0	24	223				
GCM1	8521	broad.mit.edu	37	6	52995599	52995599	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995599A>G	ENST00000259803.7	-	5	782		c.e5+1			NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)						anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATGAAGGATTACCCTGGTCTC	0.512																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.e5+1		glial cells missing homolog 1 (Drosophila)							275.0	225.0	242.0					6																	52995599		2203	4300	6503	SO:0001630	splice_region_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52995599A>G	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.570+1T>C	6.37:g.52995599A>G								NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			5	782	-	Lung NSC(77;0.0755)							Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Splice_Site	SNP	ENST00000259803.7	37		CCDS4950.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.912420	0.33721	.	.	ENSG00000137270	ENST00000259803	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1342	0.81471	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCM1	53103558	1.000000	0.71417	0.979000	0.43373	0.016000	0.09150	3.656000	0.54467	2.209000	0.71365	0.533000	0.62120	.		0.512	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		Intron	63	288	0	0	0	1	0	63	288				
TXNIP	10628	broad.mit.edu	37	1	145438873	145438873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145438873G>A	ENST00000369317.4	+	1	405	c.71G>A	c.(70-72)gGc>gAc	p.G24D	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	24					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACGGCAGTGGCGAGAAGGTG	0.488																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(70-72)gGc>gAc		thioredoxin interacting protein							124.0	114.0	117.0					1																	145438873		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438873G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.71G>A	1.37:g.145438873G>A	ENSP00000358323:p.Gly24Asp					TXNIP_ENST00000475171.1_Intron	p.G24D	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			1	405	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		24					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.71G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597236	0.96602	.	.	ENSG00000117289	ENST00000369317	T	0.23348	1.91	5.64	5.64	0.86602	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.053612	0.85682	D	0.000000	T	0.52741	0.1753	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61068	-0.7137	10	0.87932	D	0	-0.422	17.1852	0.86865	0.0:0.0:1.0:0.0	.	24	Q9H3M7	TXNIP_HUMAN	D	24	ENSP00000358323:G24D	ENSP00000358323:G24D	G	+	2	0	TXNIP	144150230	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.980000	0.93460	2.665000	0.90641	0.655000	0.94253	GGC		0.488	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		12	393	0	0	0	1	0	12	393				
NUDT19	390916	broad.mit.edu	37	19	33202821	33202821	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33202821C>T	ENST00000397061.3	+	3	1086	c.1086C>T	c.(1084-1086)caC>caT	p.H362H		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	362						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGTATAAACACGTTTATCCTA	0.408																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(1084-1086)caC>caT		nudix (nucleoside diphosphate linked moiety X)-type motif 19							146.0	139.0	142.0					19																	33202821		1906	4125	6031	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33202821C>T		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.1086C>T	19.37:g.33202821C>T							p.H362H	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			3	1086	+	Esophageal squamous(110;0.137)		362						Silent	SNP	ENST00000397061.3	37	c.1086C>T	CCDS42543.1																																																																																				0.408	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		111	591	0	0	0	1	0	111	591				
LYG1	129530	broad.mit.edu	37	2	99907721	99907721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99907721G>A	ENST00000409448.1	-	6	628	c.312C>T	c.(310-312)ggC>ggT	p.G104G	LYG1_ENST00000308528.4_Silent_p.G104G			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	104					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TAGTCCTATCGCCCATGTTGA	0.493																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(310-312)ggC>ggT		lysozyme G-like 1							163.0	135.0	145.0					2																	99907721		2203	4300	6503	SO:0001819	synonymous_variant	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99907721G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.312C>T	2.37:g.99907721G>A						LYG1_ENST00000308528.4_Silent_p.G104G	p.G104G			Q8N1E2	LYG1_HUMAN			6	628	-			104					Q53RV9	Silent	SNP	ENST00000409448.1	37	c.312C>T	CCDS2043.1																																																																																				0.493	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		88	277	0	0	0	1	0	88	277				
TRAF3IP1	26146	broad.mit.edu	37	2	239306183	239306183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306183G>T	ENST00000373327.4	+	16	1995	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	591	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CGTCCATCCAGACCCTGTGCA	0.542																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(1771-1773)caG>caT		TNF receptor-associated factor 3 interacting protein 1							106.0	99.0	102.0					2																	239306183		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239306183G>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1773G>T	2.37:g.239306183G>T	ENSP00000362424:p.Gln591His					TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H	p.Q591H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	16	1995	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	591			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1773G>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983062	0.93044	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.59502	0.26;0.26;0.26	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83168	-0.0095	10	0.87932	D	0	-46.5263	19.0814	0.93185	0.0:0.0:1.0:0.0	.	525;591	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	H	525;591;591;525	ENSP00000375851:Q525H;ENSP00000362424:Q591H;ENSP00000375852:Q591H	ENSP00000362424:Q591H	Q	+	3	2	TRAF3IP1	238970922	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.262000	0.78410	2.514000	0.84764	0.655000	0.94253	CAG		0.542	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		89	317	1	0	1.68508e-47	1	2.07469e-47	89	317				
METTL18	92342	broad.mit.edu	37	1	169762397	169762397	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169762397A>C	ENST00000310392.4	-	2	793	c.440T>G	c.(439-441)gTt>gGt	p.V147G	METTL18_ENST00000303469.2_Missense_Mutation_p.V147G|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	147						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						GCTTTTTGAAACTATGTTTTC	0.368																																						ENST00000310392.4																			0				kidney(1)|large_intestine(3)|lung(4)	8						c.(439-441)gTt>gGt		methyltransferase like 18							54.0	57.0	56.0					1																	169762397		2203	4300	6503	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762397A>C	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.440T>G	1.37:g.169762397A>C	ENSP00000307975:p.Val147Gly					C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.V147G	p.V147G	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN			2	793	-			147					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.440T>G	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427622	0.62733	.	.	ENSG00000171806	ENST00000310392;ENST00000303469;ENST00000454472	T;T;T	0.56941	2.4;2.4;0.43	5.75	5.75	0.90469	.	0.516315	0.19835	N	0.104989	T	0.37785	0.1016	L	0.53249	1.67	0.39165	D	0.962477	P	0.48998	0.918	P	0.44477	0.451	T	0.23154	-1.0196	10	0.18710	T	0.47	0.0509	14.8872	0.70579	1.0:0.0:0.0:0.0	.	147	O95568	MET18_HUMAN	G	147	ENSP00000307975:V147G;ENSP00000307077:V147G;ENSP00000402305:V147G	ENSP00000307077:V147G	V	-	2	0	METTL18	168029021	0.121000	0.22262	0.035000	0.18076	0.988000	0.76386	4.384000	0.59607	2.191000	0.70037	0.533000	0.62120	GTT		0.368	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		7	362	0	0	0	1	0	7	362				
AKAP2	11217	broad.mit.edu	37	9	112899987	112899987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899987C>T	ENST00000259318.7	+	2	1677	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	AKAP2_ENST00000434623.2_Silent_p.T579T|PALM2-AKAP2_ENST00000374530.3_Silent_p.T721T|AKAP2_ENST00000555236.1_Silent_p.T721T|PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T|AKAP2_ENST00000510514.5_Silent_p.T721T|AKAP2_ENST00000374525.1_Silent_p.T579T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	490										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TCCTGGAGACCCTATCCAATG	0.493																																						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.(2161-2163)acC>acT									92.0	91.0	92.0					9																	112899987		2203	4300	6503	SO:0001819	synonymous_variant	0						enzyme binding	g.chr9:112899987C>T	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.1470C>T	9.37:g.112899987C>T						AKAP2_ENST00000555236.1_Silent_p.T721T|AKAP2_ENST00000259318.7_Silent_p.T490T|AKAP2_ENST00000434623.2_Silent_p.T579T|AKAP2_ENST00000510514.5_Silent_p.T721T|PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T|AKAP2_ENST00000374525.1_Silent_p.T579T	p.T721T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2343	+			490					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.2163C>T	CCDS48003.1																																																																																				0.493	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		9	506	0	0	0	1	0	9	506				
PSMB7	5695	broad.mit.edu	37	9	127177699	127177699	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127177699C>T	ENST00000259457.3	-	1	19	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PSMB7_ENST00000536392.1_Silent_p.A2A|PSMB7_ENST00000498485.1_5'Flank	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	2					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CCGACACAGCCGCCATCTTCC	0.617											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536392.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						c.(4-6)gcG>gcA		proteasome (prosome, macropain) subunit, beta type, 7							37.0	37.0	37.0					9																	127177699		2203	4300	6503	SO:0001819	synonymous_variant	5695				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr9:127177699C>T	AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"""Proteasome (prosome, macropain) subunits"""	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.6G>A	9.37:g.127177699C>T			OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1555	PSMB7_ENST00000259457.3_Silent_p.A2A	p.A2A			Q99436	PSB7_HUMAN			1	22	-			2					B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Silent	SNP	ENST00000259457.3	37	c.6G>A	CCDS6855.1																																																																																				0.617	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	NM_002799		43	155	0	0	0	1	0	43	155				
DENND4A	10260	broad.mit.edu	37	15	66031062	66031062	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66031062A>G	ENST00000431932.2	-	6	991	c.783T>C	c.(781-783)acT>acC	p.T261T	DENND4A_ENST00000443035.3_Silent_p.T261T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	261	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTGAGGCTCCAGTTAAAACAA	0.343																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(781-783)acT>acC		DENN/MADD domain containing 4A							102.0	99.0	100.0					15																	66031062		1815	4068	5883	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66031062A>G	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.783T>C	15.37:g.66031062A>G						DENND4A_ENST00000431932.2_Silent_p.T261T	p.T261T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			6	998	-			261			UDENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.783T>C	CCDS45285.1																																																																																				0.343	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		74	326	0	0	0	1	0	74	326				
GNAS	2778	broad.mit.edu	37	20	57415547	57415547	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415547C>A	ENST00000313949.7	+	1	775	c.386C>A	c.(385-387)cCt>cAt	p.P129H	GNAS_ENST00000371075.3_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGACCGAGCCTGAGACCGCC	0.647			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(385-387)cCt>cAt		GNAS complex locus							91.0	83.0	86.0					20																	57415547		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415547C>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.386C>A	20.37:g.57415547C>A	ENSP00000323571:p.Pro129His	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000443966.1_RNA	p.P129H			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	775	+	all_lung(29;0.0104)		144					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.386C>A	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131731	0.37630	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.99	4.05	0.47172	.	.	.	.	.	T	0.28366	0.0701	N	0.14661	0.345	0.26043	N	0.981589	P	0.51449	0.945	P	0.48488	0.579	T	0.05162	-1.0902	8	0.42905	T	0.14	.	9.589	0.39534	0.0:0.9016:0.0:0.0984	.	129	O95467	GNAS3_HUMAN	H	129;129;129;50	.	ENSP00000323571:P129H	P	+	2	0	GNAS	56848942	0.015000	0.18098	0.542000	0.28115	0.964000	0.63967	2.125000	0.42016	1.248000	0.43934	0.585000	0.79938	CCT		0.647	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		100	487	1	0	6.00573e-27	1	6.93999e-27	100	487				
MACF1	23499	broad.mit.edu	37	1	39785375	39785375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39785375G>A	ENST00000372915.3	+	30	4087	c.4000G>A	c.(4000-4002)Gat>Aat	p.D1334N	MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N|MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000564288.1_Missense_Mutation_p.D1329N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1334					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAAAACTGGATCAATGTCA	0.368																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3985-3987)Gat>Aat		microtubule-actin crosslinking factor 1							116.0	114.0	115.0					1																	39785375		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39785375G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4000G>A	1.37:g.39785375G>A	ENSP00000362006:p.Asp1334Asn					MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N|MACF1_ENST00000372915.3_Missense_Mutation_p.D1334N|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N	p.D1329N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		31	4762	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1334					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3985G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.348761|4.348761	0.82132|0.82132	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;T;T|.	0.36520|.	1.25;1.25;1.25;1.25;1.25;1.25;1.25|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|.	.|.	.|.	.|.	T|T	0.70254|0.70254	0.3203|0.3203	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.999;0.96;0.851|.	D;P;P|.	0.69479|.	0.964;0.737;0.493|.	T|T	0.64795|0.64795	-0.6323|-0.6323	9|5	0.87932|.	D|.	0|.	.|.	20.0165|20.0165	0.97478|0.97478	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1334;1334;1299|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	N|E	1334;1334;1334;1334;1334;1292;1483|467	ENSP00000439537:D1334N;ENSP00000362006:D1334N;ENSP00000354573:D1334N;ENSP00000313438:D1334N;ENSP00000444364:D1334N;ENSP00000435070:D1292N;ENSP00000437059:D1483N|.	ENSP00000313438:D1334N|.	D|G	+|+	1|2	0|0	MACF1|MACF1	39557962|39557962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	8.007000|8.007000	0.88571|0.88571	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	GAT|GGA		0.368	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		33	273	0	0	0	1	0	33	273				
RNF8	9025	broad.mit.edu	37	6	37348968	37348968	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37348968A>G	ENST00000373479.4	+	7	1472	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	427					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTCCTACTGTATCAATGAATG	0.423																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(1279-1281)Atc>Gtc		ring finger protein 8, E3 ubiquitin protein ligase							155.0	144.0	147.0					6																	37348968		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37348968A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1279A>G	6.37:g.37348968A>G	ENSP00000362578:p.Ile427Val					RNF8_ENST00000469731.1_Intron	p.I427V	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			7	1472	+			427					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.1279A>G	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804781	0.90623	.	.	ENSG00000112130	ENST00000373479	T	0.73258	-0.73	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74535	-0.3633	10	0.48119	T	0.1	-7.7491	15.6539	0.77118	1.0:0.0:0.0:0.0	.	427	O76064	RNF8_HUMAN	V	427	ENSP00000362578:I427V	ENSP00000362578:I427V	I	+	1	0	RNF8	37456946	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	ATC		0.423	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			116	546	0	0	0	1	0	116	546				
SNX13	23161	broad.mit.edu	37	7	17915361	17915361	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17915361A>C	ENST00000409389.1	-	6	665	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	SNX13_ENST00000428135.3_Missense_Mutation_p.F165V			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	165	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGTGTGCCAAAGTCATCTACA	0.313																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(493-495)Ttt>Gtt		sorting nexin 13							140.0	123.0	128.0					7																	17915361		1829	4084	5913	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17915361A>C	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.493T>G	7.37:g.17915361A>C	ENSP00000386705:p.Phe165Val					SNX13_ENST00000428135.3_Missense_Mutation_p.F165V	p.F165V			Q9Y5W8	SNX13_HUMAN			6	665	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		165			PXA.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.493T>G		.	.	.	.	.	.	.	.	.	.	A	16.29	3.080667	0.55753	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.16457	2.34;2.6	5.5	5.5	0.81552	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	L	0.52905	1.665	0.80722	D	1	P;B;P	0.37207	0.587;0.437;0.459	B;B;B	0.42319	0.383;0.349;0.264	T	0.02026	-1.1227	10	0.05620	T	0.96	-15.2192	15.6101	0.76710	1.0:0.0:0.0:0.0	.	165;165;165	Q9Y5W8;B8ZZT9;Q9Y5W8-2	SNX13_HUMAN;.;.	V	165;165;213	ENSP00000386705:F165V;ENSP00000398789:F165V	ENSP00000242044:F213V	F	-	1	0	SNX13	17881886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.472000	0.90407	2.074000	0.62210	0.533000	0.62120	TTT		0.313	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		17	89	0	0	0	1	0	17	89				
PNISR	25957	broad.mit.edu	37	6	99852519	99852519	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99852519A>C	ENST00000369239.5	-	9	1266	c.1062T>G	c.(1060-1062)atT>atG	p.I354M	PNISR_ENST00000438806.1_Missense_Mutation_p.I354M	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTACGTAATAAATTTCTTCAT	0.338																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1060-1062)atT>atG		PNN-interacting serine/arginine-rich protein							121.0	117.0	118.0					6																	99852519		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99852519A>C	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1062T>G	6.37:g.99852519A>C	ENSP00000358242:p.Ile354Met					PNISR_ENST00000438806.1_Missense_Mutation_p.I354M	p.I354M	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			9	1266	-			354					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.1062T>G	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572816	0.45798	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.43294	0.95;0.95	5.44	2.93	0.34026	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.65677	2.01	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.39901	-0.9591	10	0.48119	T	0.1	.	4.4351	0.11547	0.6821:0.1275:0.0683:0.1221	.	354	Q8TF01	PNISR_HUMAN	M	354	ENSP00000358242:I354M;ENSP00000387997:I354M	ENSP00000358242:I354M	I	-	3	3	PNISR	99959240	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.715000	0.47210	0.318000	0.23185	-0.332000	0.08345	ATT		0.338	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		48	214	0	0	0	1	0	48	214				
FEZF2	55079	broad.mit.edu	37	3	62356929	62356929	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62356929G>A	ENST00000283268.3	-	4	1377	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	FEZF2_ENST00000475839.1_Silent_p.F361F|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Silent_p.F361F	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	361					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		ATTCGCAGACGAAGGGCTTGT	0.572																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1081-1083)ttC>ttT		FEZ family zinc finger 2							114.0	109.0	111.0					3																	62356929		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62356929G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1083C>T	3.37:g.62356929G>A						FEZF2_ENST00000475839.1_Silent_p.F361F|FEZF2_ENST00000486811.1_Silent_p.F361F	p.F361F	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	4	1377	-		Lung SC(41;0.0262)	361					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.1083C>T	CCDS2897.1																																																																																				0.572	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		55	473	0	0	0	1	0	55	473				
PPFIA2	8499	broad.mit.edu	37	12	81660794	81660794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81660794C>A	ENST00000549396.1	-	30	3652	c.3492G>T	c.(3490-3492)agG>agT	p.R1164S	PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1164S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S	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	1164	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						CAAGAATCTGCCTTGCCTGTT	0.358																																						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.(3490-3492)agG>agT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							107.0	97.0	100.0					12																	81660794		1840	4088	5928	SO:0001583	missense	8499							g.chr12:81660794C>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.3492G>T	12.37:g.81660794C>A	ENSP00000450337:p.Arg1164Ser					PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R1164S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S	p.R1164S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			29	3787	-			1063					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3492G>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485167	0.63962	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	D;D;D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.37	2.16	0.27623	.	0.235047	0.29830	N	0.011096	D	0.95582	0.8564	H	0.95187	3.635	0.51482	D	0.999923	.	.	.	.	.	.	D	0.94882	0.8040	8	0.72032	D	0.01	-0.6131	9.5769	0.39463	0.0:0.6552:0.0:0.3448	.	.	.	.	S	1164;1149;700;350;1063;1177;1152;1158;1059;1143	ENSP00000450337:R1164S;ENSP00000450298:R1149S;ENSP00000438337:R700S;ENSP00000445532:R350S;ENSP00000385093:R1063S;ENSP00000327416:R1152S;ENSP00000449338:R1158S;ENSP00000388373:R1059S;ENSP00000447868:R1143S	ENSP00000327416:R1152S	R	-	3	2	PPFIA2	80184925	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.425000	0.21346	0.658000	0.30925	0.563000	0.77884	AGG		0.358	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			18	81	1	0	1.10513e-12	1	1.18868e-12	18	81				
ATP13A1	57130	broad.mit.edu	37	19	19767835	19767835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19767835G>A	ENST00000357324.6	-	5	900	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	292						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCATCTTCCGGATCTCCGAC	0.602																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(874-876)Cgg>Tgg		ATPase type 13A1																																				SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19767835G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.874C>T	19.37:g.19767835G>A	ENSP00000349877:p.Arg292Trp					ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W	p.R292W	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			5	900	-			292					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.874C>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132679	0.77662	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.89552	-2.53;-2.53	5.36	4.32	0.51571	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.053509	0.64402	D	0.000001	D	0.96272	0.8784	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96452	0.9335	10	0.72032	D	0.01	-28.0434	11.1694	0.48563	0.0:0.0:0.6654:0.3346	.	292;174	Q9HD20;Q9HD20-2	AT131_HUMAN;.	W	174;292	ENSP00000291503:R174W;ENSP00000349877:R292W	ENSP00000291503:R174W	R	-	1	2	ATP13A1	19628835	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.171000	0.64996	1.253000	0.44018	0.563000	0.77884	CGG		0.602	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		10	50	0	0	0	1	0	10	50				
SLC1A2	6506	broad.mit.edu	37	11	35338932	35338932	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35338932G>A	ENST00000278379.3	-	2	431	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	50				T -> Q (in Ref. 2; AAA18900). {ECO:0000305}.	adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			ACCAAACACCGTCAGGGTGAG	0.622																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(148-150)aCg>aTg		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						86.0	84.0	85.0					11																	35338932		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35338932G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.149C>T	11.37:g.35338932G>A	ENSP00000278379:p.Thr50Met					SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M|SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M	p.T50M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		2	431	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	50	T -> Q (in Ref. 2; AAA18900).				B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.149C>T	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863853	0.71949	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.94	4.94	0.65067	.	0.146157	0.64402	D	0.000009	T	0.78181	0.4243	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.981;1.0	T	0.82026	-0.0661	10	0.87932	D	0	-16.1262	18.1904	0.89805	0.0:0.0:1.0:0.0	.	50;50	B4DQE9;P43004	.;EAA2_HUMAN	M	50;41;41;46	ENSP00000278379:T50M;ENSP00000379099:T41M;ENSP00000379102:T41M;ENSP00000406133:T46M	ENSP00000278379:T50M	T	-	2	0	SLC1A2	35295508	1.000000	0.71417	0.941000	0.38009	0.422000	0.31414	9.750000	0.98875	2.286000	0.76751	0.561000	0.74099	ACG		0.622	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		51	267	0	0	0	1	0	51	267				
RIN1	9610	broad.mit.edu	37	11	66102411	66102411	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66102411G>T	ENST00000311320.4	-	6	985	c.859C>A	c.(859-861)Cta>Ata	p.L287I	RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Missense_Mutation_p.L182I|RIN1_ENST00000424433.2_Missense_Mutation_p.L182I|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	287					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCCCTCCGTAGCAGCTGGCAA	0.711																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(859-861)Cta>Ata		Ras and Rab interactor 1							16.0	14.0	15.0					11																	66102411		2194	4292	6486	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102411G>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.859C>A	11.37:g.66102411G>T	ENSP00000310406:p.Leu287Ile					RIN1_ENST00000424433.2_Missense_Mutation_p.L182I|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Missense_Mutation_p.L182I	p.L287I	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			6	985	-			287					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.859C>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741447	0.49151	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.17854	2.93;2.74;2.25	4.26	4.26	0.50523	.	0.428856	0.18284	N	0.145939	T	0.28234	0.0697	M	0.61703	1.905	0.28014	N	0.934784	B;D	0.58268	0.32;0.982	B;P	0.51657	0.081;0.676	T	0.06588	-1.0818	10	0.49607	T	0.09	-10.9273	12.5372	0.56147	0.0:0.0:1.0:0.0	.	182;287	E9PNR2;Q13671	.;RIN1_HUMAN	I	287;182;182	ENSP00000310406:L287I;ENSP00000400560:L182I;ENSP00000432798:L182I	ENSP00000310406:L287I	L	-	1	2	RIN1	65858987	0.968000	0.33430	0.996000	0.52242	0.376000	0.30014	1.680000	0.37607	2.099000	0.63709	0.462000	0.41574	CTA		0.711	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		22	98	1	0	1.96292e-10	1	2.08093e-10	22	98				
ADH7	131	broad.mit.edu	37	4	100349765	100349765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349765C>T	ENST00000209665.4	-	3	419	c.179G>A	c.(178-180)cGc>cAc	p.R60H	ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000437033.2_Missense_Mutation_p.R48H	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	60					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		GTCATCTGTGCGACAGATTCC	0.413																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(142-144)cGc>cAc		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						195.0	162.0	173.0					4																	100349765		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349765C>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.179G>A	4.37:g.100349765C>T	ENSP00000209665:p.Arg60His					ADH7_ENST00000209665.4_Missense_Mutation_p.R60H|ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000482593.1_5'UTR	p.R48H			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	3	646	-			60					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.143G>A	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	C	3.540	-0.093892	0.07053	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.02682	4.2;4.2;4.2	4.02	0.0509	0.14296	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.514876	0.22398	N	0.060597	T	0.00695	0.0023	N	0.00339	-1.615	0.40885	D	0.98402	B	0.22080	0.064	B	0.17722	0.019	T	0.50499	-0.8821	10	0.02654	T	1	-0.7343	8.3891	0.32518	0.0:0.6467:0.0:0.3533	.	60	P40394	ADH7_HUMAN	H	48;60;68	ENSP00000414254:R48H;ENSP00000209665:R60H;ENSP00000420269:R68H	ENSP00000209665:R60H	R	-	2	0	ADH7	100568788	1.000000	0.71417	0.493000	0.27502	0.998000	0.95712	0.598000	0.24074	-0.246000	0.09611	0.655000	0.94253	CGC		0.413	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		40	583	0	0	0	1	0	40	583				
MCM8	84515	broad.mit.edu	37	20	5966674	5966674	+	Missense_Mutation	SNP	G	G	A	rs149433613	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5966674G>A	ENST00000378896.3	+	16	2437	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	687					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAAGCTGCTCGAGTTCTTCAA	0.468																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2059-2061)cGa>cAa		minichromosome maintenance complex component 8		A	GLN/ARG,GLN/ARG	1,4405	826.1+/-416.6	0,1,2202	115.0	107.0	110.0		2060,2012	5.7	1.0	20	dbSNP_134	110	2,8598	819.2+/-406.8	0,2,4298	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	43,43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	687/841,671/825	5966674	3,13003	2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5966674G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2060G>A	20.37:g.5966674G>A	ENSP00000368174:p.Arg687Gln					MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q|MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q	p.R687Q	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			16	2437	+			687					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2060G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	9.409	1.079986	0.20309	2.27E-4	2.33E-4	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.65	5.65	0.86999	.	0.054667	0.64402	N	0.000001	T	0.01835	0.0058	N	0.00566	-1.37	0.22401	N	0.999133	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.43228	-0.9404	10	0.06625	T	0.88	-7.1168	11.9878	0.53157	0.9323:0.0:0.0677:0.0	.	640;727;671;687	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	687;640;727;671	ENSP00000368174:R687Q;ENSP00000368161:R640Q;ENSP00000368164:R727Q;ENSP00000265187:R671Q	ENSP00000265187:R671Q	R	+	2	0	MCM8	5914674	1.000000	0.71417	0.975000	0.42487	0.687000	0.40016	6.140000	0.71738	1.081000	0.41110	-0.254000	0.11334	CGA		0.468	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		80	377	0	0	0	1	0	80	377				
APCS	325	broad.mit.edu	37	1	159558114	159558114	+	Silent	SNP	A	A	G	rs11545900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159558114A>G	ENST00000255040.2	+	2	385	c.288A>G	c.(286-288)agA>agG	p.R96R		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	96	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATTGGAAGACACAAAGTTA	0.433																																						ENST00000255040.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(286-288)agA>agG		amyloid P component, serum							95.0	94.0	94.0					1																	159558114		2203	4300	6503	SO:0001819	synonymous_variant	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159558114A>G		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.288A>G	1.37:g.159558114A>G							p.R96R	NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN			2	385	+	all_hematologic(112;0.0429)		96			Pentaxin.			Silent	SNP	ENST00000255040.2	37	c.288A>G	CCDS1186.1																																																																																				0.433	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		40	485	0	0	0	1	0	40	485				
TMEM173	340061	broad.mit.edu	37	5	138860390	138860390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860390G>A	ENST00000330794.4	-	5	838	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	169	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGATCAGCCGCAGATATCCG	0.517																																						ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(505-507)Cgg>Tgg		transmembrane protein 173							61.0	55.0	57.0					5																	138860390		2203	4300	6503	SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138860390G>A		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.505C>T	5.37:g.138860390G>A	ENSP00000331288:p.Arg169Trp					TMEM173_ENST00000511850.1_5'UTR	p.R169W	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	838	-			169					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	37	c.505C>T	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437981	0.62955	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.26223	1.75;1.75	4.4	-0.251	0.13003	.	0.490146	0.20599	N	0.089186	T	0.38585	0.1046	M	0.63428	1.95	0.35366	D	0.788627	D	0.71674	0.998	P	0.56700	0.804	T	0.56685	-0.7938	10	0.87932	D	0	-16.9345	13.4541	0.61189	0.0:0.0:0.3906:0.6094	.	169	Q86WV6	TM173_HUMAN	W	169	ENSP00000331288:R169W;ENSP00000427455:R169W	ENSP00000331288:R169W	R	-	1	2	TMEM173	138840574	0.999000	0.42202	0.997000	0.53966	0.921000	0.55340	0.573000	0.23699	0.091000	0.17302	-0.314000	0.08810	CGG		0.517	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		31	133	0	0	0	1	0	31	133				
USP24	23358	broad.mit.edu	37	1	55569592	55569592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55569592G>T	ENST00000294383.6	-	42	4981	c.4982C>A	c.(4981-4983)tCt>tAt	p.S1661Y	USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1661					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTGATGCATAGAAAGCAGTTC	0.378																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4981-4983)tCt>tAt		ubiquitin specific peptidase 24							59.0	57.0	58.0					1																	55569592		1842	4092	5934	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55569592G>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4982C>A	1.37:g.55569592G>T	ENSP00000294383:p.Ser1661Tyr					USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	p.S1661Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			42	4981	-			1661					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4982C>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410228	0.62399	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.67698	-0.28;-0.28	6.05	6.05	0.98169	.	0.111807	0.64402	D	0.000006	T	0.57140	0.2033	L	0.34521	1.04	0.51767	D	0.999936	P	0.37398	0.593	B	0.30943	0.122	T	0.61481	-0.7054	10	0.66056	D	0.02	.	18.7818	0.91937	0.0:0.0:1.0:0.0	.	1501	B7WPF4	.	Y	1661;1501	ENSP00000294383:S1661Y;ENSP00000385700:S1501Y	ENSP00000294383:S1661Y	S	-	2	0	USP24	55342180	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	7.502000	0.81614	2.878000	0.98634	0.650000	0.86243	TCT		0.378	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			12	66	1	0	1.5739e-10	1	1.67034e-10	12	66				
DNAJC6	9829	broad.mit.edu	37	1	65855014	65855014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855014G>A	ENST00000395325.3	+	10	1255	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	DNAJC6_ENST00000371069.4_Silent_p.Q423Q|DNAJC6_ENST00000263441.7_Silent_p.Q353Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	366	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TAGAACTACAGCCCCATGACA	0.403																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(1096-1098)caG>caA		DnaJ (Hsp40) homolog, subfamily C, member 6							122.0	113.0	116.0					1																	65855014		2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855014G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1098G>A	1.37:g.65855014G>A						DNAJC6_ENST00000263441.7_Silent_p.Q353Q|DNAJC6_ENST00000371069.4_Silent_p.Q423Q	p.Q366Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			10	1255	+			366			C2 tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1098G>A	CCDS30739.1																																																																																				0.403	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			47	370	0	0	0	1	0	47	370				
TPR	7175	broad.mit.edu	37	1	186307228	186307228	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186307228T>C	ENST00000367478.4	-	31	4595	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1433					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTTCTTAACTTGAGTAATAG	0.303			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(4297-4299)caA>caG		translocated promoter region, nuclear basket protein							144.0	129.0	134.0					1																	186307228		1819	4071	5890	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186307228T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4299A>G	1.37:g.186307228T>C							p.Q1433Q	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	31	4595	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1433					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.4299A>G	CCDS41446.1																																																																																				0.303	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		76	207	0	0	0	1	0	76	207				
NUP153	9972	broad.mit.edu	37	6	17688685	17688685	+	Missense_Mutation	SNP	C	C	A	rs371263282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17688685C>A	ENST00000262077.2	-	2	275	c.276G>T	c.(274-276)gaG>gaT	p.E92D	NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	92					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTAGAGCTCTCCTCATCGG	0.413																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(274-276)gaG>gaT		nucleoporin 153kDa							121.0	113.0	115.0					6																	17688685		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17688685C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.276G>T	6.37:g.17688685C>A	ENSP00000262077:p.Glu92Asp					NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	p.E92D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		2	275	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	92					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.276G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	4.533	0.098993	0.08681	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.10668	2.85;2.89	5.25	0.691	0.18045	.	0.000000	0.50627	D	0.000115	T	0.01695	0.0054	L	0.40543	1.245	0.25779	N	0.984748	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.46442	-0.9191	10	0.16420	T	0.52	-7.7884	0.6079	0.00756	0.2222:0.2519:0.3015:0.2244	.	92;114;92	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	92;114;92	ENSP00000262077:E92D;ENSP00000444029:E92D	ENSP00000262077:E92D	E	-	3	2	NUP153	17796664	0.957000	0.32711	0.554000	0.28268	0.009000	0.06853	0.230000	0.17852	0.188000	0.20168	-0.156000	0.13503	GAG		0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			34	400	1	0	6.53348e-20	1	7.30415e-20	34	400				
PRRC2A	7916	broad.mit.edu	37	6	31590622	31590622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31590622C>T	ENST00000376033.2	+	2	290	c.56C>T	c.(55-57)tCg>tTg	p.S19L	PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_Missense_Mutation_p.S19L|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	19						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGTATTCCTCGCTCAACCTG	0.522																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(55-57)tCg>tTg		proline-rich coiled-coil 2A							226.0	228.0	227.0					6																	31590622		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31590622C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.56C>T	6.37:g.31590622C>T	ENSP00000365201:p.Ser19Leu					PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_Missense_Mutation_p.S19L	p.S19L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			2	290	+			19					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.56C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540107	0.65085	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	BAT2, N-terminal (1);	0.000000	0.46758	D	0.000280	T	0.40979	0.1139	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31110	-0.9955	10	0.87932	D	0	-7.4656	17.0393	0.86484	0.0:1.0:0.0:0.0	.	19	P48634	PRC2A_HUMAN	L	19	ENSP00000365175:S19L;ENSP00000365201:S19L	ENSP00000365175:S19L	S	+	2	0	PRRC2A	31698601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.315000	0.78998	2.548000	0.85928	0.650000	0.86243	TCG		0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		87	924	0	0	0	1	0	87	924				
FNBP4	23360	broad.mit.edu	37	11	47772826	47772826	+	Silent	SNP	G	G	A	rs181295298	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47772826G>A	ENST00000263773.5	-	5	666	c.654C>T	c.(652-654)ggC>ggT	p.G218G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	218	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.					nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTGCCAATCGCCCATCTCAA	0.393													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		19019	0.0		0.0	False		,,,				2504	0.0					ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(652-654)ggC>ggT		formin binding protein 4		G		3,3751		0,3,1874	115.0	105.0	108.0		654	4.3	1.0	11		108	0,8220		0,0,4110	no	coding-synonymous	FNBP4	NM_015308.2		0,3,5984	AA,AG,GG		0.0,0.0799,0.0251		218/1018	47772826	3,11971	1877	4110	5987	SO:0001819	synonymous_variant	23360							g.chr11:47772826G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.654C>T	11.37:g.47772826G>A						FNBP4_ENST00000534003.1_5'UTR	p.G218G	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			5	666	-			218			WW 1.		Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	c.654C>T	CCDS41644.1																																																																																				0.393	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			99	467	0	0	0	1	0	99	467				
MYRF	745	broad.mit.edu	37	11	61551832	61551832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61551832G>T	ENST00000278836.5	+	25	3371	c.3275G>T	c.(3274-3276)aGt>aTt	p.S1092I	MYRF_ENST00000265460.5_Missense_Mutation_p.S1052I|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.S478I	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1092					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTCCACAGAGTCTCCACACC	0.632																																						ENST00000278836.5																			0											c.(3274-3276)aGt>aTt		myelin regulatory factor							56.0	47.0	50.0					11																	61551832		2202	4299	6501	SO:0001583	missense	745							g.chr11:61551832G>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3275G>T	11.37:g.61551832G>T	ENSP00000278836:p.Ser1092Ile					MYRF_ENST00000389602.4_Missense_Mutation_p.S478I|MYRF_ENST00000265460.5_Missense_Mutation_p.S1052I|TMEM258_ENST00000535042.1_Intron	p.S1092I	NM_001127392.1	NP_001120864.1					25	3371	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.3275G>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484299	0.26598	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.50548	0.74;0.74;0.74	4.74	0.464	0.16706	.	0.892482	0.09985	N	0.730503	T	0.51958	0.1705	L	0.53249	1.67	0.09310	N	0.999999	P;B;P	0.49253	0.921;0.23;0.517	P;B;P	0.52957	0.714;0.116;0.522	T	0.42982	-0.9419	10	0.46703	T	0.11	-2.0972	8.519	0.33264	0.0874:0.4278:0.4848:0.0	.	478;1052;1092	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	I	1092;1052;478	ENSP00000278836:S1092I;ENSP00000265460:S1052I;ENSP00000374253:S478I	ENSP00000265460:S1052I	S	+	2	0	C11orf9	61308408	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.056000	0.14256	-0.010000	0.14271	-0.140000	0.14226	AGT		0.632	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		18	123	1	0	3.8784e-16	1	4.25319e-16	18	123				
CHD9	80205	broad.mit.edu	37	16	53191042	53191042	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53191042T>C	ENST00000398510.3	+	1	1128	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G	CHD9_ENST00000566029.1_Silent_p.G347G|CHD9_ENST00000564845.1_Silent_p.G347G|CHD9_ENST00000447540.1_Silent_p.G347G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	347					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCCTCAGGGTAATTATAGCA	0.358																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1039-1041)ggT>ggC		chromodomain helicase DNA binding protein 9							42.0	39.0	40.0					16																	53191042		1851	4096	5947	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53191042T>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1041T>C	16.37:g.53191042T>C						CHD9_ENST00000447540.1_Silent_p.G347G|CHD9_ENST00000564845.1_Silent_p.G347G|CHD9_ENST00000398510.3_Silent_p.G347G	p.G347G			Q3L8U1	CHD9_HUMAN			2	1250	+		all_cancers(37;0.0212)	347					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.1041T>C																																																																																					0.358	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		18	81	0	0	0	1	0	18	81				
CDH4	1002	broad.mit.edu	37	20	60504702	60504702	+	Silent	SNP	C	C	T	rs8122772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504702C>T	ENST00000360469.5	+	13	2129	c.2041C>T	c.(2041-2043)Ctg>Ttg	p.L681L	CDH4_ENST00000543233.1_Silent_p.L607L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	681	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CATCCTGTACCTGGAGGCCGG	0.547																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2041-2043)Ctg>Ttg		cadherin 4, type 1, R-cadherin (retinal)							131.0	98.0	109.0					20																	60504702		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504702C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2041C>T	20.37:g.60504702C>T						CDH4_ENST00000543233.1_Silent_p.L607L	p.L681L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2129	+			681			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2041C>T	CCDS13488.1																																																																																				0.547	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		10	398	0	0	0	1	0	10	398				
PLEKHG3	26030	broad.mit.edu	37	14	65209988	65209988	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65209988T>C	ENST00000394691.1	+	17	3374	c.3227T>C	c.(3226-3228)gTc>gCc	p.V1076A	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.V1020A|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1076							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ggcccACCCGTCAACAGGAGC	0.716																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(3058-3060)gTc>gCc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							11.0	15.0	14.0					14																	65209988		2148	4220	6368	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209988T>C	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3227T>C	14.37:g.65209988T>C	ENSP00000378183:p.Val1076Ala					PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.V1076A|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A|PLEKHG3_ENST00000492928.1_Intron	p.V1020A	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3367	+			1076					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.3059T>C		.	.	.	.	.	.	.	.	.	.	T	15.62	2.886197	0.51908	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.68765	0.11;-0.35;1.07;1.07	5.29	5.29	0.74685	.	0.000000	0.50627	D	0.000116	T	0.78426	0.4281	M	0.61703	1.905	0.29738	N	0.83737	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.79784	0.99;0.99;0.984;0.993	T	0.75314	-0.3361	10	0.38643	T	0.18	.	14.2044	0.65725	0.0:0.0:0.0:1.0	.	609;581;1076;1020	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	A	1020;1076;609;581	ENSP00000247226:V1020A;ENSP00000378183:V1076A;ENSP00000450945:V609A;ENSP00000450973:V581A	ENSP00000247226:V1020A	V	+	2	0	PLEKHG3	64279741	1.000000	0.71417	0.986000	0.45419	0.037000	0.13140	5.053000	0.64269	1.987000	0.57996	0.533000	0.62120	GTC		0.716	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		10	289	0	0	0	1	0	10	289				
MYRIP	25924	broad.mit.edu	37	3	40223778	40223778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40223778C>T	ENST00000302541.6	+	9	1283	c.941C>T	c.(940-942)tCg>tTg	p.S314L	MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L|MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L|MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	314	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGGCTCCATCGAGGCAGCCA	0.562																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(940-942)tCg>tTg		myosin VIIA and Rab interacting protein							76.0	76.0	76.0					3																	40223778		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40223778C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.941C>T	3.37:g.40223778C>T	ENSP00000301972:p.Ser314Leu					MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L|MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L|MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L	p.S314L	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	9	1283	+			314			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.941C>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887910	0.33348	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.27	3.49	0.39957	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.047200	0.07557	N	0.916394	T	0.15262	0.0368	L	0.40543	1.245	0.09310	N	1	P;B;B	0.37781	0.608;0.335;0.386	B;B;B	0.27608	0.081;0.037;0.039	T	0.21245	-1.0251	9	.	.	.	.	7.2644	0.26222	0.0:0.426:0.46:0.114	.	225;314;314	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	L	314;314;314;225;127	ENSP00000398665:S314L;ENSP00000301972:S314L;ENSP00000389323:S314L;ENSP00000379519:S225L;ENSP00000438297:S127L	.	S	+	2	0	MYRIP	40198782	0.008000	0.16893	0.002000	0.10522	0.006000	0.05464	1.250000	0.32850	0.618000	0.30179	0.655000	0.94253	TCG		0.562	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		91	393	0	0	0	1	0	91	393				
KLHL1	57626	broad.mit.edu	37	13	70293595	70293595	+	Missense_Mutation	SNP	C	C	T	rs376662373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70293595C>T	ENST00000377844.4	-	9	2680	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	641					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGGCCACTCCGACACCCCCT	0.448																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1921-1923)Gga>Aga		kelch-like family member 1		C	ARG/GLY	0,4406		0,0,2203	130.0	114.0	119.0		1921	5.8	1.0	13		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL1	NM_020866.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	641/749	70293595	1,13005	2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70293595C>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1921G>A	13.37:g.70293595C>T	ENSP00000367075:p.Gly641Arg					KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	p.G641R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	9	2680	-		Breast(118;0.000162)	641					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1921G>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150594	0.94645	0.0	1.16E-4	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.82711	-1.64;-1.64	5.82	5.82	0.92795	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000018	D	0.91192	0.7225	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91300	0.5066	10	0.87932	D	0	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	641;641	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	641;448	ENSP00000367075:G641R;ENSP00000439602:G448R	ENSP00000367075:G641R	G	-	1	0	KLHL1	69191596	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.739000	0.93911	0.655000	0.94253	GGA		0.448	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		28	367	0	0	0	1	0	28	367				
CDHR2	54825	broad.mit.edu	37	5	176019739	176019739	+	Silent	SNP	C	C	T	rs139924459	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176019739C>T	ENST00000510636.1	+	31	4024	c.3750C>T	c.(3748-3750)gaC>gaT	p.D1250D	CDHR2_ENST00000506348.1_Silent_p.D1250D|CDHR2_ENST00000261944.5_Silent_p.D1250D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1250					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTCCCTGGACGACAACTCTG	0.547																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3748-3750)gaC>gaT		cadherin-related family member 2			,	3,4403	6.2+/-15.9	0,3,2200	171.0	134.0	147.0		3750,3750	0.2	0.9	5	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	1250/1311,1250/1311	176019739	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176019739C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3750C>T	5.37:g.176019739C>T						CDHR2_ENST00000261944.5_Silent_p.D1250D|CDHR2_ENST00000506348.1_Silent_p.D1250D	p.D1250D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			31	4024	+			1250					A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.3750C>T	CCDS34297.1																																																																																				0.547	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		8	352	0	0	0	1	0	8	352				
PNLDC1	154197	broad.mit.edu	37	6	160238156	160238156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160238156C>T	ENST00000610273.1	+	15	1268	c.1097C>T	c.(1096-1098)gCa>gTa	p.A366V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A377V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	366						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAAGTGGCACACTTGCTT	0.388																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1096-1098)gCa>gTa		poly(A)-specific ribonuclease (PARN)-like domain containing 1							219.0	198.0	205.0					6																	160238156		2203	4298	6501	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160238156C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1097C>T	6.37:g.160238156C>T	ENSP00000476448:p.Ala366Val					PNLDC1_ENST00000392167.3_Missense_Mutation_p.A377V	p.A366V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	15	1268	+		Breast(66;0.00519)|Ovarian(120;0.123)	366					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1097C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020294	0.75275	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.05	5.05	0.67936	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000008	T	0.58623	0.2135	L	0.29908	0.895	0.47698	D	0.999493	D;D	0.89917	0.998;1.0	D;D	0.74674	0.969;0.984	T	0.62718	-0.6795	9	0.56958	D	0.05	.	16.5757	0.84637	0.0:1.0:0.0:0.0	.	377;366	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	V	366;377	.	ENSP00000275275:A366V	A	+	2	0	PNLDC1	160158146	0.995000	0.38212	0.917000	0.36280	0.953000	0.61014	4.185000	0.58330	2.518000	0.84900	0.655000	0.94253	GCA		0.388	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		44	460	0	0	0	1	0	44	460				
IGF1R	3480	broad.mit.edu	37	15	99500663	99500663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99500663A>G	ENST00000268035.6	+	21	4707	c.4096A>G	c.(4096-4098)Acc>Gcc	p.T1366A	IGF1R_ENST00000558762.1_Missense_Mutation_p.T1365A|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1366					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCAGTCTTCGACCTGCTGATC	0.612																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4096-4098)Acc>Gcc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99500663A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.4096A>G	15.37:g.99500663A>G	ENSP00000268035:p.Thr1366Ala					IGF1R_ENST00000558762.1_Missense_Mutation_p.T1365A|RP11-654A16.3_ENST00000559468.1_RNA	p.T1366A	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		21	4707	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1366					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.4096A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	7.662	0.685143	0.14973	.	.	ENSG00000140443	ENST00000268035	T	0.72615	-0.67	5.67	4.55	0.56014	.	0.101038	0.41396	D	0.000887	T	0.24812	0.0602	N	0.00237	-1.79	0.42249	D	0.991965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47156	-0.9139	10	0.02654	T	1	.	3.2816	0.06917	0.6614:0.0:0.3386:0.0	.	1365;1366	C9J5X1;P08069	.;IGF1R_HUMAN	A	1366	ENSP00000268035:T1366A	ENSP00000268035:T1366A	T	+	1	0	IGF1R	97318186	1.000000	0.71417	0.923000	0.36655	0.965000	0.64279	7.583000	0.82559	2.159000	0.67721	0.455000	0.32223	ACC		0.612	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		60	274	0	0	0	1	0	60	274				
NLGN2	57555	broad.mit.edu	37	17	7315515	7315515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7315515C>T	ENST00000302926.2	+	2	570	c.497C>T	c.(496-498)cCg>cTg	p.P166L	NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	166					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.P166L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ACGCTCAATCCGCCAGACACA	0.502																																						ENST00000302926.2																			1	Substitution - Missense(1)	p.P166L(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(496-498)cCg>cTg		neuroligin 2							74.0	73.0	73.0					17																	7315515		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7315515C>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.497C>T	17.37:g.7315515C>T	ENSP00000305288:p.Pro166Leu					NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	p.P166L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			2	570	+		Prostate(122;0.157)	166					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.497C>T	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446465	0.25987	.	.	ENSG00000169992	ENST00000302926	T	0.67345	-0.26	5.47	5.47	0.80525	Carboxylesterase, type B (1);	1.061950	0.07418	N	0.893516	T	0.51534	0.1680	N	0.08118	0	0.53688	D	0.999978	B	0.09022	0.002	B	0.01281	0.0	T	0.11131	-1.0600	10	0.33141	T	0.24	.	15.1723	0.72884	0.0:1.0:0.0:0.0	.	166	Q8NFZ4	NLGN2_HUMAN	L	166	ENSP00000305288:P166L	ENSP00000305288:P166L	P	+	2	0	NLGN2	7256239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.133000	0.57983	2.729000	0.93468	0.555000	0.69702	CCG		0.502	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		70	319	0	0	0	1	0	70	319				
CALD1	800	broad.mit.edu	37	7	134635161	134635161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134635161C>T	ENST00000361675.2	+	9	2060	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000361901.2_Nonsense_Mutation_p.R356*|CALD1_ENST00000361388.2_Nonsense_Mutation_p.R382*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*			Q05682	CALD1_HUMAN	caldesmon 1	611	Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GATTGAAAGGCGAAGAGCAGA	0.453																																						ENST00000361388.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1144-1146)Cga>Tga		caldesmon 1							86.0	85.0	85.0					7																	134635161		2203	4300	6503	SO:0001587	stop_gained	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134635161C>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1831C>T	7.37:g.134635161C>T	ENSP00000354826:p.Arg611*					CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|CALD1_ENST00000361675.2_Nonsense_Mutation_p.R611*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000361901.2_Nonsense_Mutation_p.R356*	p.R382*	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN			9	1610	+			611					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Nonsense_Mutation	SNP	ENST00000361675.2	37	c.1144C>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	41	8.976056	0.99023	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	.	.	.	5.52	4.55	0.56014	.	0.000000	0.38548	N	0.001657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6252	13.0117	0.58735	0.548:0.452:0.0:0.0	.	.	.	.	X	356;356;382;382;611;356;376;350;376;361	.	ENSP00000355000:R382X	R	+	1	2	CALD1	134285701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.780000	0.62382	1.103000	0.41568	0.655000	0.94253	CGA		0.453	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		12	244	0	0	0	1	0	12	244				
ANK2	287	broad.mit.edu	37	4	114282046	114282046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114282046C>A	ENST00000357077.4	+	39	10802	c.10749C>A	c.(10747-10749)agC>agA	p.S3583R	ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R|ANK2_ENST00000509550.1_Missense_Mutation_p.S674R|ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3583	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCTTCAGCTGGACAGGTA	0.463																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10747-10749)agC>agA		ankyrin 2, neuronal							118.0	104.0	109.0					4																	114282046		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114282046C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10749C>A	4.37:g.114282046C>A	ENSP00000349588:p.Ser3583Arg					ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R|ANK2_ENST00000509550.1_Missense_Mutation_p.S674R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R|ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R	p.S3583R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	39	10802	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3550			Death.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10749C>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.15|18.15	3.560749|3.560749	0.65538|0.65538	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|D;D;D;D;D;D;D	.|0.85556	.|-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.52|5.52	4.56|4.56	0.56223|0.56223	.|.	.|0.173471	.|0.40385	.|N	.|0.001109	D|D	0.91331|0.91331	0.7266|0.7266	M|M	0.77313|0.77313	2.365|2.365	0.39653|0.39653	D|D	0.970495|0.970495	.|D;D;D;D;D;D	.|0.89917	.|0.985;0.999;0.985;0.995;1.0;0.975	.|D;D;D;D;D;P	.|0.91635	.|0.914;0.988;0.936;0.975;0.999;0.837	D|D	0.92053|0.92053	0.5650|0.5650	5|10	.|0.62326	.|D	.|0.03	.|.	12.2485|12.2485	0.54585|0.54585	0.0:0.8502:0.0:0.1498|0.0:0.8502:0.0:0.1498	.|.	.|674;533;499;1498;3583;1489	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	M|R	500;151|1489;533;1498;3583;3550;1489;674;150;593	.|ENSP00000421067:S1489R;ENSP00000378044:S1498R;ENSP00000349588:S3583R;ENSP00000264366:S3550R;ENSP00000426944:S674R;ENSP00000421023:S150R;ENSP00000422498:S593R	.|ENSP00000264366:S3550R	L|S	+|+	1|3	2|2	ANK2|ANK2	114501495|114501495	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.604000|0.604000	0.24164|0.24164	2.603000|2.603000	0.88011|0.88011	0.557000|0.557000	0.71058|0.71058	CTG|AGC		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	78	1	0	0.00307968	1	0.00310409	8	78				
IER3	8870	broad.mit.edu	37	6	30709395	30709395	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30709395G>A	ENST00000259874.5	-	0	1244				XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000470643.1_Intron|FLOT1_ENST00000456573.2_Missense_Mutation_p.A69V|FLOT1_ENST00000376389.3_Missense_Mutation_p.A69V	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CTTCACCTGGGCAATGCCAGT	0.507																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(205-207)gCc>gTc		flotillin 1							154.0	177.0	169.0					6																	30709395		1510	2708	4218	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30709395G>A	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30709395G>A						FLOT1_ENST00000470643.1_Intron|FLOT1_ENST00000456573.2_Missense_Mutation_p.A69V	p.A69V	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			4	426	-			69					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.206C>T	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818336	0.90790	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000438162;ENST00000445853;ENST00000454845	D;T;D;D;D	0.93366	-3.21;0.68;-3.21;-3.21;-3.21	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96272	0.9199	10	0.87932	D	0	-3.4168	15.3399	0.74287	0.0:0.0:1.0:0.0	.	69;69	B4DVY7;O75955	.;FLOT1_HUMAN	V	69	ENSP00000365569:A69V;ENSP00000394375:A69V;ENSP00000400615:A69V;ENSP00000398834:A69V;ENSP00000391341:A69V	ENSP00000365569:A69V	A	-	2	0	FLOT1	30817374	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.177000	0.94849	2.476000	0.83614	0.313000	0.20887	GCC		0.507	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			134	608	0	0	0	1	0	134	608				
OSBPL6	114880	broad.mit.edu	37	2	179248841	179248841	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179248841G>T	ENST00000190611.4	+	18	2327	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	651					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTCAACCCAGTCCTTGGGGA	0.448																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1951-1953)Gtc>Ttc		oxysterol binding protein-like 6							239.0	237.0	238.0					2																	179248841		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179248841G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1951G>T	2.37:g.179248841G>T	ENSP00000190611:p.Val651Phe					OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F	p.V651F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		18	2327	+			651					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1951G>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955235	0.92726	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.91	5.91	0.95273	.	0.056980	0.64402	D	0.000001	T	0.61311	0.2337	M	0.87328	2.875	0.80722	D	1	B;P;D;D;P	0.56287	0.272;0.551;0.975;0.969;0.837	B;B;P;P;B	0.61070	0.209;0.283;0.883;0.613;0.435	T	0.65088	-0.6253	10	0.62326	D	0.03	-13.4894	20.2985	0.98592	0.0:0.0:1.0:0.0	.	620;655;615;676;651	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	F	676;615;620;651;615;655	ENSP00000376293:V676F;ENSP00000352713:V615F;ENSP00000387248:V620F;ENSP00000190611:V651F;ENSP00000386885:V615F;ENSP00000318723:V655F	ENSP00000190611:V651F	V	+	1	0	OSBPL6	178957087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.247000	0.65416	2.793000	0.96121	0.655000	0.94253	GTC		0.448	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		237	1248	1	0	3.68518e-59	1	4.62544e-59	237	1248				
CCDC158	339965	broad.mit.edu	37	4	77288498	77288498	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77288498A>G	ENST00000388914.3	-	11	1931	c.1779T>C	c.(1777-1779)gcT>gcC	p.A593A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	593										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTCCAGTTGAGCTTTTTCTA	0.413																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1777-1779)gcT>gcC		coiled-coil domain containing 158							108.0	104.0	105.0					4																	77288498		1887	4103	5990	SO:0001819	synonymous_variant	339965							g.chr4:77288498A>G	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1779T>C	4.37:g.77288498A>G							p.A593A	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			11	1931	-			593					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.1779T>C	CCDS43242.1																																																																																				0.413	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		91	436	0	0	0	1	0	91	436				
ILF3	3609	broad.mit.edu	37	19	10794144	10794144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10794144C>T	ENST00000590261.1	+	14	1777	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000449870.1_Missense_Mutation_p.P597S|ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000407004.3_Missense_Mutation_p.P597S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	593					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCCTGACACCCCTCTCGCCCT	0.542																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1789-1791)Cct>Tct		interleukin enhancer binding factor 3, 90kDa							76.0	78.0	77.0					19																	10794144		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10794144C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1777C>T	19.37:g.10794144C>T	ENSP00000468156:p.Pro593Ser					ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000407004.3_Missense_Mutation_p.P597S|ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000590261.1_Missense_Mutation_p.P593S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S	p.P597S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		15	2106	+			593					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1789C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734553	0.30774	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15952	2.44;2.44;2.38;2.38;2.38	5.75	4.7	0.59300	.	0.255835	0.39909	N	0.001228	T	0.09113	0.0225	N	0.08118	0	0.18873	N	0.999988	B;B;B;B;B;B	0.29136	0.041;0.234;0.15;0.008;0.012;0.001	B;B;B;B;B;B	0.20184	0.008;0.028;0.012;0.006;0.019;0.004	T	0.21211	-1.0252	10	0.46703	T	0.11	.	12.7548	0.57328	0.2987:0.7013:0.0:0.0	.	597;597;593;597;593;593	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	S	593;597;593;593;597;593	ENSP00000404121:P597S;ENSP00000315205:P593S;ENSP00000405436:P593S;ENSP00000384660:P597S;ENSP00000250241:P593S	ENSP00000250241:P593S	P	+	1	0	ILF3	10655144	0.514000	0.26202	0.159000	0.22649	0.987000	0.75469	2.167000	0.42415	1.398000	0.46701	0.591000	0.81541	CCT		0.542	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			32	358	0	0	0	1	0	32	358				
GPR133	283383	broad.mit.edu	37	12	131466502	131466502	+	Missense_Mutation	SNP	G	G	T	rs138627746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131466502G>T	ENST00000261654.5	+	5	943	c.384G>T	c.(382-384)caG>caT	p.Q128H	GPR133_ENST00000535015.1_Missense_Mutation_p.Q160H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	128					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGGGGGACAGGTCATCTCCA	0.512																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(382-384)caG>caT		G protein-coupled receptor 133							135.0	124.0	128.0					12																	131466502		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466502G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.384G>T	12.37:g.131466502G>T	ENSP00000261654:p.Gln128His					GPR133_ENST00000535015.1_Missense_Mutation_p.Q160H	p.Q128H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	5	943	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		128					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.384G>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	8.347	0.830091	0.16749	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74106	-0.81;-0.81	4.13	3.21	0.36854	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.072165	0.56097	D	0.000026	T	0.69620	0.3131	M	0.77616	2.38	0.80722	D	1	P;B	0.35551	0.509;0.267	B;B	0.35470	0.203;0.127	T	0.73452	-0.3978	10	0.87932	D	0	.	4.6701	0.12685	0.3171:0.0:0.6829:0.0	.	160;128	B7ZLF7;Q6QNK2	.;GP133_HUMAN	H	128;160	ENSP00000261654:Q128H;ENSP00000444425:Q160H	ENSP00000261654:Q128H	Q	+	3	2	GPR133	130032455	1.000000	0.71417	0.969000	0.41365	0.116000	0.19942	0.698000	0.25571	1.996000	0.58369	0.558000	0.71614	CAG		0.512	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		95	398	1	0	2.34548e-53	1	2.9228e-53	95	398				
MCTP2	55784	broad.mit.edu	37	15	94841508	94841508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841508A>C	ENST00000357742.4	+	1	14	c.14A>C	c.(13-15)aAa>aCa	p.K5T	MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	5					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATCTGGATAAACCATCTGTT	0.433																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(13-15)aAa>aCa		multiple C2 domains, transmembrane 2							86.0	88.0	87.0					15																	94841508		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841508A>C	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.14A>C	15.37:g.94841508A>C	ENSP00000350377:p.Lys5Thr					MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR	p.K5T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	14	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		5					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.14A>C	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534538	0.45073	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.80033	-1.33;-0.94;-0.75	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000029	D	0.84374	0.5458	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;0.999	D;D;D;P;D	0.83275	0.973;0.996;0.915;0.866;0.973	D	0.86282	0.1668	10	0.72032	D	0.01	.	14.4272	0.67225	1.0:0.0:0.0:0.0	.	5;5;5;5;5	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	T	5	ENSP00000438521:K5T;ENSP00000395109:K5T;ENSP00000350377:K5T	ENSP00000350377:K5T	K	+	2	0	MCTP2	92642512	1.000000	0.71417	0.804000	0.32291	0.100000	0.18952	4.396000	0.59684	1.897000	0.54924	0.533000	0.62120	AAA		0.433	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		93	406	0	0	0	1	0	93	406				
ACACB	32	broad.mit.edu	37	12	109697952	109697952	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109697952A>G	ENST00000338432.7	+	48	6615				ACACB_ENST00000543201.1_Nonstop_Mutation_p.*859W|ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GATCAGTGTGACTGTTAGTGA	0.498																																						ENST00000543201.1																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2575-2577)tgA>tgG		acetyl-CoA carboxylase beta	Biotin(DB00121)						384.0	340.0	353.0					12																	109697952		876	1991	2867	SO:0001627	intron_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109697952A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6497-333A>G	12.37:g.109697952A>G						ACACB_ENST00000377848.3_Intron|ACACB_ENST00000377854.5_Intron|ACACB_ENST00000338432.7_Intron	p.*859W			O00763	ACACB_HUMAN			20	2578	+			0					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Nonstop_Mutation	SNP	ENST00000338432.7	37	c.2577A>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.638936	0.00799	.	.	ENSG00000076555	ENST00000543201	.	.	.	3.17	-4.36	0.03645	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8571	0.52444	0.2099:0.0:0.7901:0.0	.	.	.	.	W	859	.	.	X	+	3	0	ACACB	108182335	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.046000	0.11983	-0.927000	0.03766	-0.326000	0.08463	TGA		0.498	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		269	741	0	0	0	1	0	269	741				
NAA25	80018	broad.mit.edu	37	12	112509715	112509715	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509715G>A	ENST00000261745.4	-	10	1268	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	340						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGTACTCATCGTTACAACCTT	0.423																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1018-1020)aaC>aaT		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							140.0	114.0	123.0					12																	112509715		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112509715G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1020C>T	12.37:g.112509715G>A							p.N340N	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			10	1268	-			340					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.1020C>T	CCDS9159.1																																																																																				0.423	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		8	181	0	0	0	1	0	8	181				
NALCN	259232	broad.mit.edu	37	13	101777028	101777028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101777028C>T	ENST00000251127.6	-	18	2204	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	708					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAGACTTGCGAAGCTGAAA	0.328																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2122-2124)cGc>cAc		sodium leak channel, non-selective							122.0	117.0	119.0					13																	101777028		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101777028C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2123G>A	13.37:g.101777028C>T	ENSP00000251127:p.Arg708His						p.R708H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			18	2204	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		708					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2123G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087110	0.55861	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	6.07	6.07	0.98685	.	0.048229	0.85682	D	0.000000	D	0.93864	0.8037	N	0.14661	0.345	0.80722	D	1	P	0.38420	0.63	B	0.37047	0.24	D	0.92981	0.6406	10	0.24483	T	0.36	.	17.5761	0.87949	0.0:1.0:0.0:0.0	.	708	Q8IZF0	NALCN_HUMAN	H	708	ENSP00000251127:R708H	ENSP00000251127:R708H	R	-	2	0	NALCN	100575029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.703000	0.68340	2.885000	0.99019	0.655000	0.94253	CGC		0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		87	435	0	0	0	1	0	87	435				
SRRM2	23524	broad.mit.edu	37	16	2815936	2815936	+	Missense_Mutation	SNP	C	C	T	rs200295693		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2815936C>T	ENST00000301740.8	+	11	5956	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1803	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGAAGACAGCGGAGCCGGTC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16846	0.0		0.0	False		,,,				2504	0.0					ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5407-5409)Cgg>Tgg		serine/arginine repetitive matrix 2							39.0	46.0	44.0					16																	2815936		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815936C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5407C>T	16.37:g.2815936C>T	ENSP00000301740:p.Arg1803Trp						p.R1803W	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5956	+			1803			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5407C>T	CCDS32373.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.025	0.985903	0.18889	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39056	1.1	5.46	3.3	0.37823	.	0.000000	0.56097	D	0.000032	T	0.41419	0.1158	N	0.08118	0	0.32718	N	0.510672	D	0.89917	1.0	D	0.77557	0.99	T	0.55483	-0.8134	10	0.62326	D	0.03	-9.0486	10.9653	0.47408	0.4254:0.5746:0.0:0.0	.	1803	Q9UQ35	SRRM2_HUMAN	W	1803;1803;1055	ENSP00000301740:R1803W	ENSP00000301740:R1803W	R	+	1	2	SRRM2	2755937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.904000	0.28491	0.479000	0.27511	0.650000	0.86243	CGG		0.602	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			47	222	0	0	0	1	0	47	222				
CACNA1G	8913	broad.mit.edu	37	17	48701746	48701746	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48701746G>T	ENST00000359106.5	+	37	6255	c.6255G>T	c.(6253-6255)caG>caT	p.Q2085H	CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2085					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCACTCCCAGCCAGCAGATA	0.637																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5872-5874)caG>caT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						34.0	32.0	33.0					17																	48701746		1992	4156	6148	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48701746G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6255G>T	17.37:g.48701746G>T	ENSP00000352011:p.Gln2085His					CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Q2085H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H	p.Q1958H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	6246	+	Breast(11;6.7e-17)		2085					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5874G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	16.87	3.241904	0.58995	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98280	-4.62;-4.54;-4.49;-4.56;-4.84;-4.57;-4.73;-4.69;-4.8;-4.72;-4.69;-4.51;-4.77;-4.62;-4.64;-4.66;-4.55;-4.77;-4.59;-4.4;-4.57;-4.59;-4.67;-4.43;-4.43	5.53	3.44	0.39384	.	47.086200	0.00166	N	0.000000	D	0.98667	0.9553	L	0.55990	1.75	0.39259	D	0.964189	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.995;1.0;0.995;0.995;0.998;0.995;0.991;0.999;0.991;0.999;0.998;1.0;1.0;0.996;0.995;0.988;0.997;0.997;0.999;1.0;0.995;0.999;0.999;0.989;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;P;D	0.87578	0.989;0.984;0.983;0.991;0.995;0.921;0.991;0.998;0.991;0.971;0.993;0.993;0.984;0.993;0.974;0.805;0.921;0.992;0.998;0.984;0.989;0.961;0.997;0.854;0.921	D	0.91737	0.5401	10	0.51188	T	0.08	.	10.6152	0.45445	0.165:0.0:0.835:0.0	.	1935;1947;1940;2022;1995;1967;1999;1958;1985;1981;1992;2014;1981;2074;1974;2029;1992;2062;2040;1958;1951;2006;1969;2085;1958	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1969;1958;2051;1951;2014;1981;1947;1935;1940;1958;2040;2074;1995;1985;2006;1992;1967;2029;1999;1958;2085;1974;2022;1992;1981	ENSP00000353990:Q1969H;ENSP00000339302:Q1958H;ENSP00000347078:Q2051H;ENSP00000409759:Q1951H;ENSP00000425522:Q2014H;ENSP00000426261:Q1981H;ENSP00000425451:Q1947H;ENSP00000422407:Q1935H;ENSP00000426814:Q1940H;ENSP00000427238:Q1958H;ENSP00000423112:Q2040H;ENSP00000420918:Q2074H;ENSP00000426172:Q1995H;ENSP00000423045:Q1985H;ENSP00000427173:Q2006H;ENSP00000426098:Q1992H;ENSP00000425698:Q1967H;ENSP00000426232:Q2029H;ENSP00000423317:Q1999H;ENSP00000350979:Q1958H;ENSP00000352011:Q2085H;ENSP00000414388:Q1974H;ENSP00000423155:Q2022H;ENSP00000422268:Q1992H;ENSP00000421518:Q1981H	ENSP00000339302:Q1958H	Q	+	3	2	CACNA1G	46056745	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.273000	0.51623	0.604000	0.29930	-0.367000	0.07326	CAG		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		5	33	1	0	0.217242	1	0.217458	5	33				
ANK3	288	broad.mit.edu	37	10	62023664	62023664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62023664C>T	ENST00000280772.2	-	6	819	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ANK3_ENST00000503366.1_Missense_Mutation_p.A193T|ANK3_ENST00000373827.2_Missense_Mutation_p.A204T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	210					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTTTCGGGCCGCGATATGA	0.542																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(628-630)Gcc>Acc		ankyrin 3, node of Ranvier (ankyrin G)							112.0	95.0	101.0					10																	62023664		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62023664C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.628G>A	10.37:g.62023664C>T	ENSP00000280772:p.Ala210Thr					ANK3_ENST00000373827.2_Missense_Mutation_p.A204T|ANK3_ENST00000503366.1_Missense_Mutation_p.A193T	p.A210T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			6	819	-			210					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.628G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353870	0.95830	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.72725	0.23;0.23;2.04;-0.68	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.39274	N	0.001413	D	0.85418	0.5692	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.999	D	0.87025	0.2131	10	0.87932	D	0	.	18.879	0.92350	0.0:1.0:0.0:0.0	.	193;204;210	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	T	210;204;193;172;184	ENSP00000280772:A210T;ENSP00000362933:A204T;ENSP00000425236:A193T;ENSP00000426011:A184T	ENSP00000280772:A210T	A	-	1	0	ANK3	61693670	1.000000	0.71417	0.968000	0.41197	0.673000	0.39480	7.647000	0.83462	2.696000	0.92011	0.655000	0.94253	GCC		0.542	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		64	222	0	0	0	1	0	64	222				
CNNM1	26507	broad.mit.edu	37	10	101136957	101136957	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101136957C>T	ENST00000356713.4	+	7	2611	c.2322C>T	c.(2320-2322)agC>agT	p.S774S	CNNM1_ENST00000488090.1_3'UTR|CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000446890.1_Silent_p.S703S|CNNM1_ENST00000370528.3_Silent_p.S703S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	774					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACATCCTCAGCGATGTGCAGT	0.562																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(2320-2322)agC>agT		cyclin M1							135.0	99.0	111.0					10																	101136957		2203	4300	6503	SO:0001819	synonymous_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101136957C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2322C>T	10.37:g.101136957C>T						CNNM1_ENST00000488090.1_3'UTR|CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000370528.3_Silent_p.S703S|CNNM1_ENST00000446890.1_Silent_p.S703S	p.S774S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	7	2611	+		Colorectal(252;0.234)	774					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	c.2322C>T	CCDS7478.2																																																																																				0.562	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		20	102	0	0	0	1	0	20	102				
ZNF526	116115	broad.mit.edu	37	19	42729326	42729326	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42729326C>T	ENST00000301215.3	+	3	996	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGGCAGAGGTCGGTGATGATG	0.612																																						ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(769-771)gtC>gtT		zinc finger protein 526							126.0	67.0	87.0					19																	42729326		2202	4300	6502	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729326C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.771C>T	19.37:g.42729326C>T							p.V257V	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	996	+		Prostate(69;0.0704)	257					B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.771C>T	CCDS12598.1																																																																																				0.612	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		52	214	0	0	0	1	0	52	214				
WDR37	22884	broad.mit.edu	37	10	1175231	1175231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1175231C>T	ENST00000358220.1	+	14	1576	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	WDR37_ENST00000263150.4_Missense_Mutation_p.R478W			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGGGTTTGACCGGCAAGCCAT	0.502																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(1432-1434)Cgg>Tgg		WD repeat domain 37							126.0	99.0	108.0					10																	1175231		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1175231C>T	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1432C>T	10.37:g.1175231C>T	ENSP00000350954:p.Arg478Trp					WDR37_ENST00000263150.4_Missense_Mutation_p.R478W	p.R478W			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	14	1576	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	478					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.1432C>T	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265075	0.80358	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01379	4.96;4.96	5.72	2.29	0.28610	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	T	0.02294	-1.1181	10	0.87932	D	0	.	16.0685	0.80907	0.2373:0.7627:0.0:0.0	.	479;478	A8K976;Q9Y2I8	.;WDR37_HUMAN	W	478	ENSP00000350954:R478W;ENSP00000263150:R478W	ENSP00000263150:R478W	R	+	1	2	WDR37	1165231	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	3.468000	0.53086	0.482000	0.27582	0.561000	0.74099	CGG		0.502	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		44	244	0	0	0	1	0	44	244				
OR7D4	125958	broad.mit.edu	37	19	9324922	9324922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324922C>T	ENST00000308682.2	-	1	620	c.592G>A	c.(592-594)Gtc>Atc	p.V198I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(592-594)Gtc>Atc		olfactory receptor, family 7, subfamily D, member 4							107.0	100.0	102.0					19																	9324922		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324922C>T		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.592G>A	19.37:g.9324922C>T	ENSP00000310488:p.Val198Ile						p.V198I	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	620	-			198					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.592G>A	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475593	0.26511	.	.	ENSG00000174667	ENST00000308682	T	0.37235	1.21	4.0	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	2.995800	0.00741	N	0.001017	T	0.25382	0.0617	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.12656	-1.0539	10	0.49607	T	0.09	.	3.2699	0.06878	0.216:0.4146:0.0713:0.2981	.	198	Q8NG98	OR7D4_HUMAN	I	198	ENSP00000310488:V198I	ENSP00000310488:V198I	V	-	1	0	OR7D4	9185922	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.342000	0.00130	-1.946000	0.01035	-0.436000	0.05848	GTC		0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			92	419	0	0	0	1	0	92	419				
KRT73	319101	broad.mit.edu	37	12	53010165	53010165	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53010165C>T	ENST00000305748.3	-	2	482		c.e2-1		RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAACCGCACCTGGAACCCAT	0.507																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.e2-1		keratin 73							78.0	74.0	75.0					12																	53010165		2203	4300	6503	SO:0001630	splice_region_variant	319101					keratin filament	structural molecule activity	g.chr12:53010165C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.448-1G>A	12.37:g.53010165C>T								NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	482	-								Q32MB2	Splice_Site	SNP	ENST00000305748.3	37		CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658507	0.67586	.	.	ENSG00000186049	ENST00000305748	.	.	.	4.82	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5438	0.61690	0.0:0.9231:0.0:0.0769	.	.	.	.	.	-1	.	.	.	-	.	.	KRT73	51296432	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.713000	0.84693	1.347000	0.45714	0.561000	0.74099	.		0.507	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	Intron	87	292	0	0	0	1	0	87	292				
NDUFA6	4700	broad.mit.edu	37	22	42482233	42482233	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42482233C>A	ENST00000498737.2	-	3	551	c.419G>T	c.(418-420)aGg>aTg	p.R140M	NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M|NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	140					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						ATCCTTTGGCCTTGGCGCTTC	0.428																																						ENST00000498737.2																			0				kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(418-420)aGg>aTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	NADH(DB00157)						212.0	187.0	195.0					22																	42482233		2203	4300	6503	SO:0001583	missense	4700				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr22:42482233C>A	AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7690	protein-coding gene	gene with protein product	"""complex I B14 subunit"""	602138	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"""			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.419G>T	22.37:g.42482233C>A	ENSP00000418842:p.Arg140Met					NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M|NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M|SMDT1_ENST00000547929.1_Intron	p.R140M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN			3	551	-			140					B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Missense_Mutation	SNP	ENST00000498737.2	37	c.419G>T	CCDS33656.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743576	0.89663	.	.	ENSG00000184983	ENST00000498737	T	0.66280	-0.2	6.17	4.09	0.47781	.	0.085950	0.85682	D	0.000000	T	0.74884	0.3775	M	0.87038	2.855	0.80722	D	1	D	0.54047	0.964	P	0.52856	0.711	T	0.78650	-0.2121	10	0.56958	D	0.05	-24.6463	12.8598	0.57908	0.0:0.8674:0.0:0.1326	.	140	P56556	NDUA6_HUMAN	M	140	ENSP00000418842:R140M	ENSP00000418842:R140M	R	-	2	0	NDUFA6	40812179	1.000000	0.71417	0.949000	0.38748	0.959000	0.62525	3.215000	0.51169	0.938000	0.37419	0.655000	0.94253	AGG		0.428	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		123	505	1	0	7.48799e-53	1	9.32186e-53	123	505				
THAP4	51078	broad.mit.edu	37	2	242572744	242572744	+	Silent	SNP	G	G	A	rs575990048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572744G>A	ENST00000407315.1	-	2	1259	c.828C>T	c.(826-828)ccC>ccT	p.P276P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	276							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGCCCTTGTCGGGTCCCAGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17254	0.0		0.0	False		,,,				2504	0.001					ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(826-828)ccC>ccT		THAP domain containing 4							73.0	80.0	77.0					2																	242572744		2203	4296	6499	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242572744G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.828C>T	2.37:g.242572744G>A							p.P276P	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1259	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	276					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.828C>T	CCDS2551.1																																																																																				0.637	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		192	552	0	0	0	1	0	192	552				
TSC2	7249	broad.mit.edu	37	16	2112582	2112582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2112582C>T	ENST00000219476.3	+	13	1972	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000568454.1_Silent_p.L459L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000353929.4_Silent_p.L448L|TSC2_ENST00000439673.2_Silent_p.L411L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	448					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCAGGCGCTGATGGAGAG	0.612			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(1342-1344)Ctg>Ttg		tuberous sclerosis 2							45.0	44.0	44.0					16																	2112582		2198	4300	6498	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2112582C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1342C>T	16.37:g.2112582C>T						TSC2_ENST00000439673.2_Silent_p.L411L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000353929.4_Silent_p.L448L|TSC2_ENST00000568454.1_Silent_p.L459L	p.L448L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			13	1972	+		Hepatocellular(780;0.0202)	448					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.1342C>T	CCDS10458.1																																																																																				0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		12	59	0	0	0	1	0	12	59				
ENPEP	2028	broad.mit.edu	37	4	111431456	111431456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111431456G>A	ENST00000265162.5	+	6	1592	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	417					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTAAATGAAGGATTTGCTTCT	0.368																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1249-1251)gGa>gAa		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						231.0	234.0	233.0					4																	111431456		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111431456G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1250G>A	4.37:g.111431456G>A	ENSP00000265162:p.Gly417Glu						p.G417E	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	6	1592	+		Hepatocellular(203;0.217)	417					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1250G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098730	0.94197	.	.	ENSG00000138792	ENST00000265162	T	0.24350	1.86	5.4	5.4	0.78164	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85786	0.1364	10	0.87932	D	0	.	19.1557	0.93509	0.0:0.0:1.0:0.0	.	417	Q07075	AMPE_HUMAN	E	417	ENSP00000265162:G417E	ENSP00000265162:G417E	G	+	2	0	ENPEP	111650905	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.810000	0.99221	2.522000	0.85027	0.650000	0.86243	GGA		0.368	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			77	356	0	0	0	1	0	77	356				
TMEM198	130612	broad.mit.edu	37	2	220409581	220409581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220409581G>A	ENST00000344458.2	+	3	717	c.132G>A	c.(130-132)atG>atA	p.M44I	CHPF_ENST00000535926.1_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I|CHPF_ENST00000243776.6_5'Flank|RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000373891.2_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198	44					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCTGCATCATGTGCTGTTTGT	0.597																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(130-132)atG>atA		transmembrane protein 198							129.0	114.0	119.0					2																	220409581		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220409581G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.132G>A	2.37:g.220409581G>A	ENSP00000343507:p.Met44Ile					TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I	p.M44I			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	3	717	+		Renal(207;0.0376)	44						Missense_Mutation	SNP	ENST00000344458.2	37	c.132G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058557	0.55325	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883;ENST00000451952	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.42686	1.345	0.48762	D	0.999707	P	0.47841	0.901	P	0.46208	0.507	T	0.48387	-0.9040	9	0.11485	T	0.65	-32.5733	16.4838	0.84179	0.0:0.0:1.0:0.0	.	44	Q66K66	TM198_HUMAN	I	44;44;44;130	.	ENSP00000343507:M44I	M	+	3	0	TMEM198	220117825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.573000	0.67417	2.305000	0.77605	0.555000	0.69702	ATG		0.597	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		81	424	0	0	0	1	0	81	424				
ABCA9	10350	broad.mit.edu	37	17	67004260	67004260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67004260C>T	ENST00000340001.4	-	24	3475	c.3264G>A	c.(3262-3264)atG>atA	p.M1088I	ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1088					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAATATAATCCATTATTTGCA	0.363																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3262-3264)atG>atA		ATP-binding cassette, sub-family A (ABC1), member 9							65.0	75.0	71.0					17																	67004260		2203	4299	6502	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67004260C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3264G>A	17.37:g.67004260C>T	ENSP00000342216:p.Met1088Ile					ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I	p.M1088I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			24	3475	-	Breast(10;1.47e-12)		1088					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3264G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516910	0.00151	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.84730	-1.89;-1.89	4.8	-0.6	0.11642	.	0.807251	0.10785	N	0.634426	T	0.67988	0.2952	L	0.28504	0.86	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.004;0.006	T	0.50242	-0.8851	10	0.07813	T	0.8	.	0.9723	0.01418	0.3544:0.323:0.1349:0.1877	.	1088;1088	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1088;1071;1088;1083	ENSP00000342216:M1088I;ENSP00000359767:M1088I	ENSP00000342216:M1088I	M	-	3	0	ABCA9	64515855	0.001000	0.12720	0.452000	0.26994	0.001000	0.01503	0.311000	0.19380	0.158000	0.19367	-0.309000	0.09137	ATG		0.363	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		37	475	0	0	0	1	0	37	475				
HEATR5B	54497	broad.mit.edu	37	2	37286131	37286131	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37286131C>T	ENST00000233099.5	-	13	1945		c.e13-1		HEATR5B_ENST00000354531.2_Splice_Site	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTCCTCATGGCTAGATAAAAT	0.328																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.e13-1		HEAT repeat containing 5B							79.0	75.0	76.0					2																	37286131		2203	4300	6503	SO:0001630	splice_region_variant	54497						binding	g.chr2:37286131C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1850-1G>A	2.37:g.37286131C>T						HEATR5B_ENST00000354531.2_Splice_Site		NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			13	1945	-		all_hematologic(82;0.21)						B5MDU8|Q7Z3B2|Q9NVL7	Splice_Site	SNP	ENST00000233099.5	37		CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304176	0.81136	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	6.13	6.13	0.99165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR5B	37139635	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.979000	0.70508	2.932000	0.99384	0.644000	0.83932	.		0.328	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	Intron	29	196	0	0	0	1	0	29	196				
DEDD	9191	broad.mit.edu	37	1	161094177	161094177	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161094177G>T	ENST00000368006.3	-	3	290	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|DEDD_ENST00000392188.1_Missense_Mutation_p.L26M|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|DEDD_ENST00000490843.2_Missense_Mutation_p.L26M	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	26	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGCGGTGCAGGCTGTACAGC	0.572																																						ENST00000392188.1																			0				cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10						c.(76-78)Ctg>Atg		death effector domain containing							102.0	94.0	97.0					1																	161094177		2203	4300	6503	SO:0001583	missense	9191				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161094177G>T	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.76C>A	1.37:g.161094177G>T	ENSP00000356985:p.Leu26Met					DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|DEDD_ENST00000368006.3_Missense_Mutation_p.L26M	p.L26M			O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	310	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		26			DED.		D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	c.76C>A	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844544	0.71488	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.13	5.13	0.70059	DEATH-like (1);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	T	0.66352	-0.5945	9	0.87932	D	0	.	9.4848	0.38922	0.0932:0.0:0.9068:0.0	.	26;26;26	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	M	26	.	ENSP00000356984:L26M	L	-	1	2	DEDD	159360801	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.905000	0.56333	2.669000	0.90835	0.655000	0.94253	CTG		0.572	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		76	321	1	0	6.43283e-47	1	7.91128e-47	76	321				
SLC17A1	6568	broad.mit.edu	37	6	25811866	25811866	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25811866C>A	ENST00000244527.4	-	9	1145	c.1030G>T	c.(1030-1032)Gga>Tga	p.G344*	SLC17A1_ENST00000427328.1_Splice_Site_p.G290*|SLC17A1_ENST00000468082.1_Splice_Site_p.G290*|SLC17A1_ENST00000476801.1_Splice_Site_p.G344*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	344					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGTTGCTTACCTGCTGCTGTG	0.468																																						ENST00000244527.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.e9+1		solute carrier family 17 (organic anion transporter), member 1							92.0	84.0	87.0					6																	25811866		2203	4300	6503	SO:0001630	splice_region_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25811866C>A		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1030+1G>T	6.37:g.25811866C>A						SLC17A1_ENST00000427328.1_Splice_Site_p.G290_splice|SLC17A1_ENST00000476801.1_Splice_Site_p.G344_splice|SLC17A1_ENST00000468082.1_Splice_Site_p.G290_splice	p.G344_splice	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN			9	1145	-			344					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Splice_Site	SNP	ENST00000244527.4	37	c.1030_splice	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242864	0.58995	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.48	3.48	0.39840	.	0.000000	0.44097	D	0.000493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7785	0.46363	0.0:1.0:0.0:0.0	.	.	.	.	X	344;290;344;290	.	.	G	-	1	0	SLC17A1	25919845	0.996000	0.38824	0.975000	0.42487	0.106000	0.19336	4.214000	0.58527	2.248000	0.74166	0.650000	0.86243	GGA		0.468	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		Nonsense_Mutation	56	289	1	0	9.59835e-30	1	1.1228e-29	56	289				
NR1I2	8856	broad.mit.edu	37	3	119536008	119536008	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119536008C>T	ENST00000337940.4	+	9	1419	c.1371C>T	c.(1369-1371)caC>caT	p.H457H	NR1I2_ENST00000393716.2_Silent_p.H418H|NR1I2_ENST00000466380.1_Silent_p.H381H	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	418					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGGACATACACCCCTTTGCTA	0.602																																						ENST00000393716.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(1252-1254)caC>caT		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						97.0	93.0	95.0					3																	119536008		2203	4300	6503	SO:0001819	synonymous_variant	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119536008C>T	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1371C>T	3.37:g.119536008C>T						NR1I2_ENST00000337940.4_Silent_p.H457H|NR1I2_ENST00000466380.1_Silent_p.H381H	p.H418H	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	9	3093	+			418			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	ENST00000337940.4	37	c.1254C>T	CCDS2995.1																																																																																				0.602	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			58	397	0	0	0	1	0	58	397				
IL17REL	400935	broad.mit.edu	37	22	50439631	50439631	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200685715		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439631G>A	ENST00000389983.2	-	0	253				IL17REL_ENST00000341280.5_De_novo_Start_OutOfFrame	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like											endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GACACGGGGCGTGGCCGGCAG	0.627																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6								interleukin 17 receptor E-like							27.0	24.0	25.0					22																	50439631		2190	4292	6482			400935							g.chr22:50439631G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.-12C>T	22.37:g.50439631G>A						IL17REL_ENST00000341280.5_De_novo_Start_OutOfFrame		NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	0	253	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)						A6NCN4|A6PVC1	Translation_Start_Site	SNP	ENST00000389983.2	37		CCDS33679.1																																																																																				0.627	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		7	40	0	0	0	1	0	7	40				
KLF14	136259	broad.mit.edu	37	7	130418143	130418143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418143C>T	ENST00000310992.4	-	1	745	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCAGCTCGTCGGAACGCGTA	0.637																																						ENST00000310992.4																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(718-720)Gac>Aac		Kruppel-like factor 14							35.0	34.0	35.0					7																	130418143		2202	4299	6501	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130418143C>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.718G>A	7.37:g.130418143C>T	ENSP00000310878:p.Asp240Asn						p.D240N	NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN			1	745	-	Melanoma(18;0.0435)		240					Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.718G>A	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269922	0.95429	.	.	ENSG00000174595	ENST00000310992	T	0.26067	1.76	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003517	T	0.34135	0.0887	N	0.14661	0.345	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.36529	-0.9744	10	0.87932	D	0	.	15.3231	0.74139	0.0:1.0:0.0:0.0	.	240	Q8TD94	KLF14_HUMAN	N	240	ENSP00000310878:D240N	ENSP00000310878:D240N	D	-	1	0	KLF14	130068683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.374000	0.81015	0.561000	0.74099	GAC		0.637	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		14	70	0	0	0	1	0	14	70				
ELAVL1	1994	broad.mit.edu	37	19	8032510	8032510	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8032510G>A	ENST00000407627.2	-	5	724	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Silent_p.L199L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	199					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAGTGGTACAGCTGCGAGAGG	0.582																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(595-597)Ctg>Ttg		ELAV like RNA binding protein 1							121.0	97.0	105.0					19																	8032510		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8032510G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.595C>T	19.37:g.8032510G>A						ELAVL1_ENST00000596459.1_Silent_p.L199L|ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000593807.1_Intron	p.L199L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			5	724	-			199					B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.595C>T	CCDS12193.1																																																																																				0.582	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		7	259	0	0	0	1	0	7	259				
PRRC2C	23215	broad.mit.edu	37	1	171548988	171548988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171548988C>T	ENST00000338920.4	+	28	7525	c.7288C>T	c.(7288-7290)Cca>Tca	p.P2430S	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2432S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2365S|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P2432S	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2430	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TCAGCAGATTCCAATCCCTAT	0.423																																						ENST00000367742.3																			0											c.(7294-7296)Cca>Tca		proline-rich coiled-coil 2C							108.0	103.0	105.0					1																	171548988		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171548988C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7288C>T	1.37:g.171548988C>T	ENSP00000343629:p.Pro2430Ser					PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2430S|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2432S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2365S	p.P2432S			Q9Y520	PRC2C_HUMAN			28	7536	+			2430			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.7294C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634739	0.67130	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.03889	3.77;3.81;3.8;3.8	5.26	5.26	0.73747	.	0.000000	0.44902	D	0.000420	T	0.13415	0.0325	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01899	-1.1251	10	0.44086	T	0.13	.	18.8668	0.92294	0.0:1.0:0.0:0.0	.	2430	Q9Y520-4	.	S	2432;2384;2365;2432;2430;2187	ENSP00000375928:P2432S;ENSP00000410219:P2365S;ENSP00000356716:P2432S;ENSP00000343629:P2430S	ENSP00000343629:P2430S	P	+	1	0	PRRC2C	169815612	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	7.356000	0.79445	2.466000	0.83321	0.313000	0.20887	CCA		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		64	196	0	0	0	1	0	64	196				
HYAL4	23553	broad.mit.edu	37	7	123516989	123516989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123516989C>T	ENST00000223026.4	+	5	1864	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	409					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CACATAGAGGCCTCTGAGGAC	0.483																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1225-1227)gCc>gTc		hyaluronoglucosaminidase 4							128.0	123.0	125.0					7																	123516989		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516989C>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1226C>T	7.37:g.123516989C>T	ENSP00000223026:p.Ala409Val					HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	p.A409V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			5	1864	+			409					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.1226C>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357485	0.11239	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.17691	2.26;2.26	5.86	1.63	0.23807	Epidermal growth factor-like (1);	0.774566	0.12155	N	0.494491	T	0.08268	0.0206	N	0.12887	0.27	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.41928	-0.9481	10	0.13108	T	0.6	0.0162	8.2129	0.31494	0.0:0.5058:0.0:0.4942	.	409	Q2M3T9	HYAL4_HUMAN	V	409	ENSP00000223026:A409V;ENSP00000417186:A409V	ENSP00000223026:A409V	A	+	2	0	HYAL4	123304225	0.000000	0.05858	0.932000	0.37286	0.464000	0.32679	-0.133000	0.10451	0.348000	0.23949	0.650000	0.86243	GCC		0.483	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		86	381	0	0	0	1	0	86	381				
MFRP	83552	broad.mit.edu	37	11	119216795	119216795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119216795G>A	ENST00000530681.1	-	3	376	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|MFRP_ENST00000555262.1_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	78					embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGCAGCAGGAGGAGCAGGCTG	0.627																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(232-234)Ctc>Ttc		membrane frizzled-related protein							27.0	25.0	25.0					11																	119216795		2189	4293	6482	SO:0001583	missense	83552							g.chr11:119216795G>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.232C>T	11.37:g.119216795G>A	ENSP00000456533:p.Leu78Phe					MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|MFRP_ENST00000530681.1_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|C1QTNF5_ENST00000445041.2_5'UTR	p.L78F	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	3	391	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.232C>T	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261630	0.39995	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.72835	-0.69;-0.69;1.35	4.78	4.78	0.61160	.	0.086607	0.46442	D	0.000283	T	0.56093	0.1962	L	0.36672	1.1	0.38950	D	0.95833	B;B	0.28971	0.229;0.049	B;B	0.27608	0.081;0.026	T	0.53718	-0.8399	10	0.17369	T	0.5	-21.5893	9.4859	0.38928	0.098:0.0:0.902:0.0	.	78;78	B4DHN8;Q9BY79	.;MFRP_HUMAN	F	78	ENSP00000450509:L78F;ENSP00000391664:L78F;ENSP00000353291:L78F	ENSP00000353291:L78F	L	-	1	0	MFRP	118722005	0.004000	0.15560	1.000000	0.80357	0.981000	0.71138	-0.117000	0.10708	2.357000	0.79964	0.655000	0.94253	CTC		0.627	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		12	89	0	0	0	1	0	12	89				
TGFBI	7045	broad.mit.edu	37	5	135383056	135383056	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135383056A>G	ENST00000442011.2	+	6	879	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	240	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCACCATCACCAACAACAT	0.562																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(718-720)Acc>Gcc		transforming growth factor, beta-induced, 68kDa							239.0	235.0	236.0					5																	135383056		2134	4237	6371	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383056A>G	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.718A>G	5.37:g.135383056A>G	ENSP00000416330:p.Thr240Ala					TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	p.T240A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	879	+			240			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.718A>G	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.44|13.44	2.236619|2.236619	0.39498|0.39498	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767|ENST00000442011;ENST00000305126	.|D;D	.|0.91464	.|-2.85;-2.85	6.0|6.0	2.16|2.16	0.27623|0.27623	.|FAS1 domain (2);	.|0.346314	.|0.36268	.|N	.|0.002698	D|D	0.85652|0.85652	0.5746|0.5746	L|L	0.55481|0.55481	1.735|1.735	0.47037|0.47037	D|D	0.999293|0.999293	.|B	.|0.29481	.|0.245	.|B	.|0.25614	.|0.062	T|T	0.76710|0.76710	-0.2859|-0.2859	5|10	.|0.22109	.|T	.|0.4	-6.952|-6.952	11.3332|11.3332	0.49487|0.49487	0.6357:0.0:0.0:0.3643|0.6357:0.0:0.0:0.3643	.|.	.|240	.|Q15582	.|BGH3_HUMAN	R|A	15|240	.|ENSP00000416330:T240A;ENSP00000306306:T240A	.|ENSP00000306306:T240A	H|T	+|+	2|1	0|0	TGFBI|TGFBI	135410955|135410955	0.003000|0.003000	0.15002|0.15002	0.775000|0.775000	0.31657|0.31657	0.891000|0.891000	0.51852|0.51852	1.730000|1.730000	0.38125|0.38125	0.129000|0.129000	0.18514|0.18514	0.454000|0.454000	0.30748|0.30748	CAC|ACC		0.562	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			207	911	0	0	0	1	0	207	911				
THADA	63892	broad.mit.edu	37	2	43801511	43801511	+	Missense_Mutation	SNP	C	C	T	rs369020610		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43801511C>T	ENST00000405006.4	-	11	2044	c.1693G>A	c.(1693-1695)Gta>Ata	p.V565I	THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I|THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000403856.1_Missense_Mutation_p.V565I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	565										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGAATCTTTACCATGTACTGT	0.299																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1693-1695)Gta>Ata		thyroid adenoma associated		C	ILE/VAL,ILE/VAL	1,3611		0,1,1805	28.0	27.0	27.0		1693,1693	5.9	1.0	2		27	0,8146		0,0,4073	no	missense,missense	THADA	NM_001083953.1,NM_022065.4	29,29	0,1,5878	TT,TC,CC		0.0,0.0277,0.0085	benign,benign	565/1954,565/1954	43801511	1,11757	1806	4073	5879	SO:0001583	missense	63892						binding	g.chr2:43801511C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1693G>A	2.37:g.43801511C>T	ENSP00000385995:p.Val565Ile					THADA_ENST00000405006.4_Missense_Mutation_p.V565I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I|THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I	p.V565I			Q6YHU6	THADA_HUMAN			12	1840	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	565					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.1693G>A	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870952	0.33069	2.77E-4	0.0	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.64438	1.59;1.59;1.59;1.59;-0.1;-0.1;1.59	5.94	5.94	0.96194	Armadillo-type fold (1);	0.138436	0.48767	D	0.000176	T	0.44265	0.1285	L	0.39397	1.21	0.34512	D	0.707249	P;B;P;B;P	0.38020	0.597;0.319;0.566;0.431;0.615	B;B;B;B;B	0.33568	0.166;0.069;0.138;0.065;0.1	T	0.51888	-0.8648	10	0.12430	T	0.62	-0.738	5.7072	0.17915	0.1707:0.6832:0.0:0.1461	.	565;565;565;275;565	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	I	275;565;565;275;565;565;565;565	ENSP00000331105:V275I;ENSP00000386088:V565I;ENSP00000416048:V275I;ENSP00000385995:V565I;ENSP00000385441:V565I;ENSP00000384266:V565I;ENSP00000385469:V565I	ENSP00000331105:V275I	V	-	1	0	THADA	43655015	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.380000	0.52448	2.816000	0.96949	0.561000	0.74099	GTA		0.299	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		14	53	0	0	0	1	0	14	53				
SMARCAL1	50485	broad.mit.edu	37	2	217341855	217341855	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217341855C>T	ENST00000357276.4	+	16	2781	c.2451C>T	c.(2449-2451)cgC>cgT	p.R817R	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.R817R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	817	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGAGGACCGCGTGCACCGCA	0.567									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2449-2451)cgC>cgT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							93.0	74.0	80.0					2																	217341855		2202	4298	6500	SO:0001819	synonymous_variant	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217341855C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2451C>T	2.37:g.217341855C>T						SMARCAL1_ENST00000358207.5_Silent_p.R817R	p.R817R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	16	2781	+		Renal(323;0.0458)	817			Helicase C-terminal.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.2451C>T	CCDS2403.1																																																																																				0.567	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			6	26	0	0	0	1	0	6	26				
ELK3	2004	broad.mit.edu	37	12	96641197	96641197	+	Silent	SNP	C	C	T	rs142048091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96641197C>T	ENST00000228741.3	+	3	1013	c.687C>T	c.(685-687)aaC>aaT	p.N229N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	229					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TGTTGCCAAACGCTGCCAGTA	0.622																																						ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(685-687)aaC>aaT		ELK3, ETS-domain protein (SRF accessory protein 2)		C		0,4406		0,0,2203	70.0	80.0	77.0		687	-6.8	0.0	12	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELK3	NM_005230.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		229/408	96641197	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641197C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.687C>T	12.37:g.96641197C>T						ELK3_ENST00000552142.1_Intron	p.N229N	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			3	1013	+	all_cancers(2;0.00173)		229					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.687C>T	CCDS9060.1																																																																																				0.622	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		129	681	0	0	0	1	0	129	681				
AP1M1	8907	broad.mit.edu	37	19	16339685	16339685	+	Silent	SNP	C	C	T	rs532714925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16339685C>T	ENST00000291439.3	+	9	1442	c.993C>T	c.(991-993)agC>agT	p.S331S	AP1M1_ENST00000444449.2_Silent_p.S343S|AP1M1_ENST00000590756.1_Silent_p.S259S|AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000541844.1_Silent_p.S259S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	331	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGGTGGGGAGCGTTAAGTGGG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19720	0.0		0.0	False		,,,				2504	0.0					ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(991-993)agC>agT		adaptor-related protein complex 1, mu 1 subunit							226.0	135.0	166.0					19																	16339685		2203	4300	6503	SO:0001819	synonymous_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16339685C>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.993C>T	19.37:g.16339685C>T						AP1M1_ENST00000590756.1_Silent_p.S259S|AP1M1_ENST00000541844.1_Silent_p.S259S|AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000444449.2_Silent_p.S343S	p.S331S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			9	1442	+			331			MHD.		Q4TTY5	Silent	SNP	ENST00000291439.3	37	c.993C>T	CCDS12342.1																																																																																				0.587	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		54	186	0	0	0	1	0	54	186				
HTR3C	170572	broad.mit.edu	37	3	183777674	183777674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777674C>T	ENST00000318351.1	+	8	1018	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	328					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGACCGTCTTCATTACCTACC	0.572																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(982-984)ttC>ttT		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							132.0	123.0	126.0					3																	183777674		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777674C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.984C>T	3.37:g.183777674C>T							p.F328F	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1018	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		328					A2RRR5	Silent	SNP	ENST00000318351.1	37	c.984C>T	CCDS3250.1																																																																																				0.572	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		90	364	0	0	0	1	0	90	364				
RNF213	57674	broad.mit.edu	37	17	78337097	78337097	+	Silent	SNP	C	C	T	rs528998140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78337097C>T	ENST00000582970.1	+	40	11694	c.11551C>T	c.(11551-11553)Ctg>Ttg	p.L3851L	RNF213_ENST00000508628.2_Silent_p.L3900L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.L1924L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3851					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAACCATGAGCTGGCTGGATG	0.567																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11551-11553)Ctg>Ttg		ring finger protein 213							87.0	76.0	80.0					17																	78337097		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78337097C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11551C>T	17.37:g.78337097C>T						CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3900L|RNF213_ENST00000336301.6_Silent_p.L1924L	p.L3851L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		40	11694	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.11551C>T	CCDS58606.1																																																																																				0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		19	382	0	0	0	1	0	19	382				
GTF2IRD1P1	729156	broad.mit.edu	37	7	66301765	66301765	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66301765C>T	ENST00000457166.1	-	0	301					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TCCACAGGGGCCGGATCACGT	0.582																																						ENST00000457166.1																			0																																																			0							g.chr7:66301765C>T			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66301765C>T								NR_003934.1						0	301	-									RNA	SNP	ENST00000457166.1	37																																																																																						0.582	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		5	80	0	0	0	1	0	5	80				
SNAP29	9342	broad.mit.edu	37	22	21242053	21242053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21242053C>T	ENST00000215730.7	+	5	834	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	AC007308.7_ENST00000608856.1_RNA	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	236	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CATTCTTGACCGGCTGACAAC	0.468																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(706-708)Cgg>Tgg		synaptosomal-associated protein, 29kDa							150.0	132.0	138.0					22																	21242053		2203	4300	6503	SO:0001583	missense	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21242053C>T	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.706C>T	22.37:g.21242053C>T	ENSP00000215730:p.Arg236Trp						p.R236W	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		5	834	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	236			t-SNARE coiled-coil homology.			Missense_Mutation	SNP	ENST00000215730.7	37	c.706C>T	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985515	0.93044	.	.	ENSG00000099940	ENST00000215730;ENST00000439214	.	.	.	5.99	5.99	0.97316	Target SNARE coiled-coil domain (3);	0.175838	0.51477	D	0.000086	D	0.84795	0.5551	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	D	0.86213	0.1626	9	0.87932	D	0	-10.08	20.0728	0.97731	0.0:1.0:0.0:0.0	.	236	O95721	SNP29_HUMAN	W	236;143	.	ENSP00000215730:R236W	R	+	1	2	SNAP29	19572053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.542000	0.45744	2.840000	0.97914	0.655000	0.94253	CGG		0.468	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		76	341	0	0	0	1	0	76	341				
PYROXD2	84795	broad.mit.edu	37	10	100152291	100152291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100152291G>A	ENST00000370575.4	-	10	1008	c.960C>T	c.(958-960)ggC>ggT	p.G320G	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	320							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTGAACACAGCCTTCACTGT	0.532																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(958-960)ggC>ggT		pyridine nucleotide-disulphide oxidoreductase domain 2							234.0	158.0	184.0					10																	100152291		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100152291G>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.960C>T	10.37:g.100152291G>A						PYROXD2_ENST00000483923.1_5'UTR	p.G320G	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			10	1008	-			320					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.960C>T	CCDS7474.1																																																																																				0.532	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		59	346	0	0	0	1	0	59	346				
KIAA1468	57614	broad.mit.edu	37	18	59966089	59966089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59966089C>T	ENST00000398130.2	+	28	3758	c.3526C>T	c.(3526-3528)Caa>Taa	p.Q1176*	KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.Q1210*|RP11-173A16.1_ENST00000591014.1_RNA	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1176										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCAAGAGCCTCAAGGGTAAGA	0.294																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(3628-3630)Caa>Taa		KIAA1468							66.0	67.0	66.0					18																	59966089		2203	4299	6502	SO:0001587	stop_gained	57614						binding	g.chr18:59966089C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3526C>T	18.37:g.59966089C>T	ENSP00000381198:p.Gln1176*					KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.Q1176*	p.Q1210*			Q9P260	K1468_HUMAN			29	3876	+		Colorectal(73;0.186)	1176						Nonsense_Mutation	SNP	ENST00000398130.2	37	c.3628C>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	44	10.535140	0.99423	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.46	5.46	0.80206	.	0.109052	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.4767	19.6622	0.95877	0.0:1.0:0.0:0.0	.	.	.	.	X	1176;1210	.	.	Q	+	1	0	KIAA1468	58117069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.354000	0.79424	2.707000	0.92482	0.557000	0.71058	CAA		0.294	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		27	139	0	0	0	1	0	27	139				
TPPP	11076	broad.mit.edu	37	5	678080	678080	+	Silent	SNP	C	C	T	rs549762776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:678080C>T	ENST00000360578.5	-	2	217	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGATTCCAGCGACAGCCTCT	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		15944	0.0		0.0	False		,,,				2504	0.001					ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(94-96)tcG>tcA		tubulin polymerization promoting protein							15.0	19.0	18.0					5																	678080		2198	4296	6494	SO:0001819	synonymous_variant	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:678080C>T	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.96G>A	5.37:g.678080C>T							p.S32S	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	2	217	-		Ovarian(839;0.0563)	32			Mediates interaction with LIMK1.			Silent	SNP	ENST00000360578.5	37	c.96G>A	CCDS3856.1																																																																																				0.692	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		20	131	0	0	0	1	0	20	131				
CD177	57126	broad.mit.edu	37	19	43858441	43858441	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858441C>A	ENST00000607517.1	+	0	332				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACCGGATGGGCCCCGGCCTCT	0.657																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule							44.0	56.0	52.0					19																	43858441		2003	4150	6153			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43858441C>A	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43858441C>A						CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	318	+		Prostate(69;0.00682)						Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	RNA	SNP	ENST00000607517.1	37																																																																																						0.657	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		46	211	1	0	5.48756e-27	1	6.34209e-27	46	211				
PRSS16	10279	broad.mit.edu	37	6	27222472	27222472	+	Splice_Site	SNP	A	A	G	rs145885657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222472A>G	ENST00000230582.3	+	10	1166	c.1151A>G	c.(1150-1152)tAt>tGt	p.Y384C	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site_p.Y127C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	384					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCTACACAGATGTCACCTGT	0.498																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.e10-1		protease, serine, 16 (thymus)							115.0	108.0	111.0					6																	27222472		2203	4300	6503	SO:0001630	splice_region_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222472A>G	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1151-1A>G	6.37:g.27222472A>G						PRSS16_ENST00000421826.2_Splice_Site_p.Y127_splice|PRSS16_ENST00000377456.2_Intron	p.Y384_splice	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1166	+			384					O75416	Splice_Site	SNP	ENST00000230582.3	37	c.1150_splice	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	A	4.065	0.009916	0.07912	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.17854	2.25;2.25	4.68	4.68	0.58851	.	0.253691	0.41097	D	0.000956	T	0.19967	0.0480	M	0.78285	2.405	0.48452	D	0.999651	D;P	0.53745	0.962;0.654	P;B	0.51701	0.677;0.24	T	0.01512	-1.1336	10	0.40728	T	0.16	.	10.7158	0.46011	1.0:0.0:0.0:0.0	.	127;384	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	C	127;384	ENSP00000404349:Y127C;ENSP00000230582:Y384C	ENSP00000230582:Y384C	Y	+	2	0	PRSS16	27330451	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.570000	0.45981	2.106000	0.64143	0.455000	0.32223	TAT		0.498	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		Missense_Mutation	93	518	0	0	0	1	0	93	518				
CHMP2A	27243	broad.mit.edu	37	19	59063087	59063087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59063087C>T	ENST00000600118.1	-	5	1023	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T|CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	200	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGGCTGCGGCCTCTGCTTTT	0.612																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(598-600)Gcc>Acc		charged multivesicular body protein 2A							51.0	59.0	56.0					19																	59063087		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063087C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.598G>A	19.37:g.59063087C>T	ENSP00000469240:p.Ala200Thr					CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T|CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T	p.A200T			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	1023	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	200			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.598G>A	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859324	0.51376	.	.	ENSG00000130724	ENST00000312547	T	0.78364	-1.17	4.83	3.73	0.42828	.	0.191125	0.46145	D	0.000301	T	0.56187	0.1968	N	0.08118	0	0.44439	D	0.99736	B	0.15141	0.012	B	0.11329	0.006	T	0.51896	-0.8647	10	0.22706	T	0.39	.	11.141	0.48402	0.0:0.7156:0.2844:0.0	.	200	O43633	CHM2A_HUMAN	T	200	ENSP00000310440:A200T	ENSP00000310440:A200T	A	-	1	0	CHMP2A	63754899	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	2.730000	0.47335	2.686000	0.91538	0.650000	0.86243	GCC		0.612	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		24	496	0	0	0	1	0	24	496				
PPL	5493	broad.mit.edu	37	16	4934822	4934822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934822G>A	ENST00000345988.2	-	22	3923	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A	PPL_ENST00000590782.2_Silent_p.A1276A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1278					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTCTTTCAGGGCCTGGATTT	0.522																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3832-3834)gcC>gcT		periplakin							176.0	177.0	177.0					16																	4934822		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934822G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3834C>T	16.37:g.4934822G>A						PPL_ENST00000590782.2_Silent_p.A1276A	p.A1278A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3923	-			1278					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3834C>T	CCDS10526.1																																																																																				0.522	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		237	927	0	0	0	1	0	237	927				
GALR1	2587	broad.mit.edu	37	18	74962940	74962940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74962940C>A	ENST00000299727.3	+	1	436	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	146					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CTCCTCCTCCCTCAGGGTGTC	0.672																																						ENST00000299727.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(436-438)Ctc>Atc		galanin receptor 1							57.0	49.0	52.0					18																	74962940		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962940C>A	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.436C>A	18.37:g.74962940C>A	ENSP00000299727:p.Leu146Ile						p.L146I	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	436	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	146					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.436C>A	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820857	0.16678	.	.	ENSG00000166573	ENST00000299727	T	0.71698	-0.59	4.49	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.157190	0.42821	N	0.000642	T	0.45796	0.1360	N	0.10916	0.065	0.39673	D	0.970781	B	0.12013	0.005	B	0.12156	0.007	T	0.24404	-1.0161	10	0.26408	T	0.33	.	6.7241	0.23346	0.3058:0.6095:0.0:0.0848	.	146	P47211	GALR1_HUMAN	I	146	ENSP00000299727:L146I	ENSP00000299727:L146I	L	+	1	0	GALR1	73091928	0.774000	0.28592	0.970000	0.41538	0.332000	0.28634	1.084000	0.30828	0.816000	0.34421	0.591000	0.81541	CTC		0.672	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			56	249	1	0	2.23044e-30	1	2.6157e-30	56	249				
PSG8	440533	broad.mit.edu	37	19	43258660	43258660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43258660C>T	ENST00000306511.4	-	5	1165	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	PSG8_ENST00000404209.4_Silent_p.A356A|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Silent_p.A263A|PSG8_ENST00000406636.3_Silent_p.A234A	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	356	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGTTAGAGTCCGCAGAACAGG	0.453																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1066-1068)gcG>gcA		pregnancy specific beta-1-glycoprotein 8							126.0	139.0	135.0					19																	43258660		2203	4296	6499	SO:0001819	synonymous_variant	0					extracellular region		g.chr19:43258660C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1068G>A	19.37:g.43258660C>T						PSG8_ENST00000406636.3_Silent_p.A234A|PSG8_ENST00000401467.2_Silent_p.A263A|PSG8_ENST00000306511.4_Silent_p.A356A|PSG8_ENST00000600709.1_5'UTR	p.A356A	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			5	1164	-		Prostate(69;0.00899)	356			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.1068G>A	CCDS33037.1																																																																																				0.453	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			36	1023	0	0	0	1	0	36	1023				
IRF2BPL	64207	broad.mit.edu	37	14	77493962	77493962	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77493962C>T	ENST00000238647.3	-	1	1072	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	58					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CGTGCGCCCGCTTCAGCTGGC	0.692																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(172-174)aaG>aaA		interferon regulatory factor 2 binding protein-like							11.0	13.0	12.0					14																	77493962		2185	4275	6460	SO:0001819	synonymous_variant	64207					nucleus		g.chr14:77493962C>T	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.174G>A	14.37:g.77493962C>T							p.K58K	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1072	-			58					Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	c.174G>A	CCDS9854.1																																																																																				0.692	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		18	90	0	0	0	1	0	18	90				
TG	7038	broad.mit.edu	37	8	134144149	134144149	+	Silent	SNP	G	G	A	rs367550488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134144149G>A	ENST00000220616.4	+	46	7996	c.7956G>A	c.(7954-7956)tcG>tcA	p.S2652S	TG_ENST00000377869.1_Silent_p.S2595S|TG_ENST00000519543.1_Silent_p.S785S|TG_ENST00000542445.1_Silent_p.S1022S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2652					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S2652S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGCCTGTCGCTGAAAATCA	0.507																																						ENST00000220616.4																			1	Substitution - coding silent(1)	p.S2652S(1)	pancreas(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7954-7956)tcG>tcA		thyroglobulin		G		0,4406		0,0,2203	119.0	119.0	119.0		7956	-10.6	0.0	8		119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TG	NM_003235.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		2652/2769	134144149	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134144149G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7956G>A	8.37:g.134144149G>A						TG_ENST00000519543.1_Silent_p.S785S|TG_ENST00000542445.1_Silent_p.S1022S|TG_ENST00000377869.1_Silent_p.S2595S	p.S2652S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	46	7996	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2652					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.7956G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182462	0.09495	0.0	2.33E-4	ENSG00000042832	ENST00000519178	.	.	.	5.32	-10.6	0.00265	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	T	0.69011	-0.5258	4	.	.	.	.	0.5461	0.00654	0.2289:0.2851:0.2121:0.2739	.	.	.	.	T	1108	.	.	A	+	1	0	TG	134213331	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-5.450000	0.00121	-7.265000	0.00001	-1.671000	0.00744	GCT		0.507	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		76	358	0	0	0	1	0	76	358				
NRROS	375387	broad.mit.edu	37	3	196386811	196386811	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196386811C>T	ENST00000328557.4	+	3	500	c.297C>T	c.(295-297)ggC>ggT	p.G99G		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	99					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCAGCCGCGGCGCCTTCCAGG	0.657																																						ENST00000328557.4																			0											c.(295-297)ggC>ggT		negative regulator of reactive oxygen species							44.0	42.0	43.0					3																	196386811		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196386811C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.297C>T	3.37:g.196386811C>T							p.G99G	NM_198565.1	NP_940967.1					3	500	+									Silent	SNP	ENST00000328557.4	37	c.297C>T	CCDS3319.1																																																																																				0.657	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		40	211	0	0	0	1	0	40	211				
MVB12B	89853	broad.mit.edu	37	9	129157960	129157960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129157960G>A	ENST00000361171.3	+	6	727	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	MVB12B_ENST00000436593.3_Missense_Mutation_p.A201T|MVB12B_ENST00000535766.1_Missense_Mutation_p.A209T|MVB12B_ENST00000545391.1_Missense_Mutation_p.A216T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	216					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTCCACCCCAGCCCCCAACCT	0.542																																						ENST00000361171.3																			0											c.(646-648)Gcc>Acc		multivesicular body subunit 12B							134.0	123.0	127.0					9																	129157960		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129157960G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.646G>A	9.37:g.129157960G>A	ENSP00000354772:p.Ala216Thr					MVB12B_ENST00000535766.1_Missense_Mutation_p.A209T|MVB12B_ENST00000545391.1_Missense_Mutation_p.A216T|MVB12B_ENST00000436593.3_Missense_Mutation_p.A201T	p.A216T	NM_033446.2	NP_258257.1					6	727	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.646G>A	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133316	0.77662	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.69	5.69	0.88448	.	0.055983	0.64402	D	0.000001	T	0.52435	0.1734	M	0.63428	1.95	0.48452	D	0.999654	P;B;P;B	0.40931	0.733;0.114;0.659;0.134	B;B;B;B	0.43658	0.426;0.055;0.228;0.112	T	0.43294	-0.9400	10	0.16420	T	0.52	-0.1943	19.8045	0.96525	0.0:0.0:1.0:0.0	.	209;201;85;216	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	T	216;216;201;201;209	ENSP00000354772:A216T;ENSP00000441988:A216T;ENSP00000384751:A201T;ENSP00000401379:A201T;ENSP00000442846:A209T	ENSP00000354772:A216T	A	+	1	0	FAM125B	128197781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.626000	0.74253	2.676000	0.91093	0.655000	0.94253	GCC		0.542	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		19	620	0	0	0	1	0	19	620				
KAT2B	8850	broad.mit.edu	37	3	20167396	20167396	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20167396G>T	ENST00000263754.4	+	10	1868		c.e10-1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTGCATCTCAGACCAATTTTC	0.468																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.e10-1		K(lysine) acetyltransferase 2B							71.0	74.0	73.0					3																	20167396		2203	4300	6503	SO:0001630	splice_region_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20167396G>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1414-1G>T	3.37:g.20167396G>T								NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			10	1868	+								Q6NSK1	Splice_Site	SNP	ENST00000263754.4	37		CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337915	0.60963	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6847	0.95976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT2B	20142400	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	9.813000	0.99286	2.726000	0.93360	0.655000	0.94253	.		0.468	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	Intron	61	381	1	0	1.11718e-16	1	1.22894e-16	61	381				
BCL11B	64919	broad.mit.edu	37	14	99697788	99697788	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697788C>T	ENST00000357195.3	-	3	543	c.534G>A	c.(532-534)ccG>ccA	p.P178P	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	178					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAGGCAGGGCGGGAGAGCGC	0.697			T	TLX3	T-ALL																																	ENST00000357195.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(532-534)ccG>ccA		B-cell CLL/lymphoma 11B (zinc finger protein)							23.0	26.0	25.0					14																	99697788		2196	4298	6494	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99697788C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.534G>A	14.37:g.99697788C>T						BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	p.P178P	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	543	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	178					Q9H162	Silent	SNP	ENST00000357195.3	37	c.534G>A	CCDS9950.1																																																																																				0.697	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		27	98	0	0	0	1	0	27	98				
WNT5A	7474	broad.mit.edu	37	3	55508452	55508452	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55508452G>T	ENST00000474267.1	-	5	1118	c.597C>A	c.(595-597)gcC>gcA	p.A199A	WNT5A_ENST00000497027.1_Silent_p.A184A|WNT5A_ENST00000264634.4_Silent_p.A199A			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	199					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCCGCTCGCGGGCGTCCACGA	0.687																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(595-597)gcC>gcA		wingless-type MMTV integration site family, member 5A							14.0	20.0	18.0					3																	55508452		2121	4263	6384	SO:0001819	synonymous_variant	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508452G>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.597C>A	3.37:g.55508452G>T						WNT5A_ENST00000264634.4_Silent_p.A199A|WNT5A_ENST00000497027.1_Silent_p.A184A	p.A199A			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1118	-			199					A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	c.597C>A	CCDS46850.1																																																																																				0.687	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		23	113	1	0	6.44725e-10	1	6.81304e-10	23	113				
DIP2A	23181	broad.mit.edu	37	21	47931507	47931507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931507C>T	ENST00000417564.2	+	8	1103	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	DIP2A_ENST00000318711.7_Missense_Mutation_p.A362V|DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V|DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	361					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACTGGGAAAGCCGTCTACACT	0.537																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1084-1086)gCc>gTc		DIP2 disco-interacting protein 2 homolog A (Drosophila)							46.0	46.0	46.0					21																	47931507		1987	4174	6161	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47931507C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1082C>T	21.37:g.47931507C>T	ENSP00000392066:p.Ala361Val					DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000417564.2_Missense_Mutation_p.A361V|DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V|DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V	p.A362V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	8	1268	+	Breast(49;0.0933)		361					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1085C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	4.724	0.134557	0.09032	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.34	5.34	0.76211	.	0.147808	0.46145	D	0.000305	T	0.49779	0.1577	L	0.46157	1.445	0.58432	D	0.999991	B;B;D;B;B;B	0.59767	0.003;0.001;0.986;0.302;0.002;0.01	B;B;P;B;B;B	0.52481	0.013;0.026;0.7;0.254;0.015;0.056	T	0.40175	-0.9577	10	0.35671	T	0.21	-18.538	18.0406	0.89318	0.0:1.0:0.0:0.0	.	362;297;318;361;361;361	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	V	357;297;362;318;361;318;361;361	ENSP00000383133:A357V;ENSP00000400528:A297V;ENSP00000323633:A362V;ENSP00000393434:A361V;ENSP00000430249:A318V;ENSP00000415089:A361V;ENSP00000392066:A361V	ENSP00000323633:A362V	A	+	2	0	DIP2A	46755935	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	5.959000	0.70339	2.505000	0.84491	0.563000	0.77884	GCC		0.537	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		11	108	0	0	0	1	0	11	108				
AKR1C3	8644	broad.mit.edu	37	10	5147842	5147842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5147842G>A	ENST00000380554.3	+	8	1554	c.902G>A	c.(901-903)aGa>aAa	p.R301K	AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	301					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	GGCCTAGACAGAAATCTCCAC	0.358																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(901-903)aGa>aAa		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						106.0	109.0	108.0					10																	5147842		2203	4300	6503	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5147842G>A	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.902G>A	10.37:g.5147842G>A	ENSP00000369927:p.Arg301Lys					AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K	p.R301K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN			8	1554	+			301					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	c.902G>A	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443841	0.12164	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.50548	0.74;0.74	2.63	1.65	0.23941	NADP-dependent oxidoreductase domain (2);	0.425790	0.21143	N	0.079453	T	0.19167	0.0460	N	0.02539	-0.55	0.29636	N	0.845116	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.17979	0.02;0.014;0.008	T	0.18398	-1.0338	10	0.21014	T	0.42	.	7.7877	0.29101	0.1407:0.0:0.8593:0.0	.	182;301;301	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	K	182;301	ENSP00000401327:R182K;ENSP00000369927:R301K	ENSP00000369927:R301K	R	+	2	0	AKR1C3	5137842	1.000000	0.71417	0.016000	0.15963	0.046000	0.14306	1.844000	0.39269	0.391000	0.25143	0.491000	0.48974	AGA		0.358	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		38	152	0	0	0	1	0	38	152				
KCNK10	54207	broad.mit.edu	37	14	88652276	88652276	+	Missense_Mutation	SNP	C	C	T	rs144714447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88652276C>T	ENST00000340700.5	-	7	1671	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H|KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	407					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCCTTGAAGCGGCCGGTGTC	0.667																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1219-1221)cGc>cAc		potassium channel, subfamily K, member 10		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	61.0	60.0		1220,1235,1235	4.8	1.0	14	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	407/539,412/544,412/544	88652276	1,13005	2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652276C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1220G>A	14.37:g.88652276C>T	ENSP00000343104:p.Arg407His					KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H|KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H	p.R407H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			7	1671	-			407					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1220G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655498	0.47467	2.27E-4	0.0	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91945	-2.93;-2.94;-2.94	5.71	4.82	0.62117	.	0.156145	0.53938	N	0.000041	D	0.87815	0.6272	L	0.43152	1.355	0.45747	D	0.998646	B;B;B	0.15473	0.002;0.013;0.004	B;B;B	0.10450	0.001;0.005;0.002	T	0.82837	-0.0260	10	0.17369	T	0.5	.	13.9924	0.64374	0.0:0.9275:0.0:0.0725	.	407;412;412	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	H	407;412;412	ENSP00000343104:R407H;ENSP00000310568:R412H;ENSP00000312811:R412H	ENSP00000310568:R412H	R	-	2	0	KCNK10	87722029	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.954000	0.49113	1.428000	0.47296	0.655000	0.94253	CGC		0.667	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		95	375	0	0	0	1	0	95	375				
JARID2	3720	broad.mit.edu	37	6	15497082	15497082	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15497082C>T	ENST00000341776.2	+	7	1870	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	JARID2_ENST00000541660.1_Silent_p.A504A|JARID2_ENST00000397311.3_Silent_p.A370A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	542					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGGCAAGGCCGAGAAGGGCG	0.647																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1624-1626)gcC>gcT		jumonji, AT rich interactive domain 2							24.0	27.0	26.0					6																	15497082		2202	4298	6500	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497082C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1626C>T	6.37:g.15497082C>T						JARID2_ENST00000397311.3_Silent_p.A370A|JARID2_ENST00000541660.1_Silent_p.A504A	p.A542A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1870	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	542					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1626C>T	CCDS4533.1																																																																																				0.647	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		27	143	0	0	0	1	0	27	143				
N4BP2	55728	broad.mit.edu	37	4	40154517	40154517	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40154517G>T	ENST00000261435.6	+	17	5677	c.5261G>T	c.(5260-5262)aGc>aTc	p.S1754I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1754	Smr. {ECO:0000255|PROSITE- ProRule:PRU00321}.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGCCATAGCTTCAGGTGA	0.408																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5260-5262)aGc>aTc		NEDD4 binding protein 2							148.0	130.0	136.0					4																	40154517		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40154517G>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.5261G>T	4.37:g.40154517G>T	ENSP00000261435:p.Ser1754Ile						p.S1754I	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			17	5677	+			1754			Smr.		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.5261G>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.611447|3.611447	0.66558|0.66558	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18810|.	2.19|.	5.83|5.83	0.364|0.364	0.16124|0.16124	Smr protein/MutS2 C-terminal (2);|.	0.428284|.	0.26359|.	N|.	0.024835|.	T|.	0.34513|.	0.0900|.	L|L	0.33137|0.33137	0.985|0.985	0.29688|0.29688	N|N	0.84114|0.84114	P;P|.	0.47409|.	0.872;0.895|.	P;P|.	0.57425|.	0.726;0.82|.	T|.	0.35674|.	-0.9779|.	10|.	0.72032|.	D|.	0.01|.	-0.0705|-0.0705	10.509|10.509	0.44851|0.44851	0.5059:0.0:0.4941:0.0|0.5059:0.0:0.4941:0.0	.|.	1737;1754|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	1754;1674|1383	ENSP00000261435:S1754I|.	ENSP00000261435:S1754I|.	S|X	+|+	2|3	0|2	N4BP2|N4BP2	39830912|39830912	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.982000|0.982000	0.71751|0.71751	1.585000|1.585000	0.36600|0.36600	0.078000|0.078000	0.16900|0.16900	0.655000|0.655000	0.94253|0.94253	AGC|TAG		0.408	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		46	239	1	0	2.68985e-26	1	3.09749e-26	46	239				
CHIT1	1118	broad.mit.edu	37	1	203192262	203192262	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192262C>A	ENST00000367229.1	-	6	640		c.e6+1		CHIT1_ENST00000535569.1_Splice_Site|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Splice_Site	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)						chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGAGACTCACTGGGCGATTT	0.562																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.e6+1		chitinase 1 (chitotriosidase)							139.0	132.0	134.0					1																	203192262		2203	4300	6503	SO:0001630	splice_region_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192262C>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.605+1G>T	1.37:g.203192262C>A						CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Splice_Site|CHIT1_ENST00000535569.1_Splice_Site		NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			6	640	-								B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Splice_Site	SNP	ENST00000367229.1	37		CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156689	0.38119	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.62	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9969	0.47582	0.0:0.9062:0.0:0.0938	.	.	.	.	.	-1	.	.	.	-	.	.	CHIT1	201458885	1.000000	0.71417	0.739000	0.30968	0.434000	0.31775	5.178000	0.65037	1.032000	0.39892	0.655000	0.94253	.		0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465	Intron	163	738	1	0	7.28047e-80	1	9.30738e-80	163	738				
RDH16	8608	broad.mit.edu	37	12	57345960	57345960	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57345960C>T	ENST00000398138.3	-	4	1663	c.807G>A	c.(805-807)gaG>gaA	p.E269E	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	269					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TCAGCGCATGCTCCATGCAGT	0.512																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(805-807)gaG>gaA		retinol dehydrogenase 16 (all-trans)							95.0	106.0	102.0					12																	57345960		2145	4259	6404	SO:0001819	synonymous_variant	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57345960C>T		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.807G>A	12.37:g.57345960C>T						RDH16_ENST00000360752.4_5'UTR	p.E269E	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN			4	1663	-			269					Q9UNV2	Silent	SNP	ENST00000398138.3	37	c.807G>A	CCDS41797.1																																																																																				0.512	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		51	223	0	0	0	1	0	51	223				
MOSPD3	64598	broad.mit.edu	37	7	100210480	100210480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210480G>A	ENST00000393950.2	+	1	348	c.66G>A	c.(64-66)cgG>cgA	p.R22R	MOSPD3_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	22					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.R22R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					gggggtcccggggcgccccTC	0.731																																						ENST00000393950.2																			1	Substitution - coding silent(1)	p.R22R(1)	lung(1)	breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(64-66)cgG>cgA		motile sperm domain containing 3							14.0	17.0	16.0					7																	100210480		2114	4183	6297	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100210480G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.66G>A	7.37:g.100210480G>A						MOSPD3_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R	p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			1	348	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		22					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.66G>A	CCDS5701.1																																																																																				0.731	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		68	240	0	0	0	1	0	68	240				
H2AFY	9555	broad.mit.edu	37	5	134696257	134696257	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134696257C>A	ENST00000511689.1	-	5	1111	c.518G>T	c.(517-519)aGc>aTc	p.S173I	H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I|H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I|H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000512507.1_5'UTR	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	173					chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCGGTTGTGCTGTCGGCGCT	0.587																																						ENST00000511689.1																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(517-519)aGc>aTc		H2A histone family, member Y							109.0	94.0	99.0					5																	134696257		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134696257C>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.518G>T	5.37:g.134696257C>A	ENSP00000423563:p.Ser173Ile					H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000512507.1_5'UTR	p.S173I	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1111	-			173					O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.518G>T	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787136	0.90367	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.26373	1.78;1.74;1.83;1.78	5.84	5.84	0.93424	.	0.075115	0.85682	D	0.000000	T	0.52208	0.1720	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.999;0.987	P;D;P	0.85130	0.808;0.997;0.648	T	0.49624	-0.8920	10	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	172;173;173	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	I	173;172;173;173	ENSP00000423563:S173I;ENSP00000302572:S172I;ENSP00000310169:S173I;ENSP00000424971:S173I	ENSP00000302572:S172I	S	-	2	0	H2AFY	134724156	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.543000	0.67225	2.760000	0.94817	0.655000	0.94253	AGC		0.587	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		22	346	1	0	2.21704e-12	1	2.37967e-12	22	346				
NUP205	23165	broad.mit.edu	37	7	135279294	135279294	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135279294G>T	ENST00000285968.6	+	13	1856		c.e13-1		NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCAATTCTTAGAGTGAAAATG	0.408																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.e13-1		nucleoporin 205kDa							81.0	84.0	83.0					7																	135279294		2203	4300	6503	SO:0001630	splice_region_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135279294G>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1831-1G>T	7.37:g.135279294G>T						NUP205_ENST00000440390.2_Intron		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			13	1856	+								A6H8X3|Q86YC1	Splice_Site	SNP	ENST00000285968.6	37		CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189076	0.57909	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0836	0.93192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP205	134929834	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	9.802000	0.99131	2.479000	0.83701	0.655000	0.94253	.		0.408	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		Intron	73	304	1	0	2.18329e-32	1	2.57781e-32	73	304				
EPB41L4A	64097	broad.mit.edu	37	5	111615981	111615981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111615981C>T	ENST00000261486.5	-	3	520	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	82	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGATCAGTTCTTTGTGTTCA	0.378																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(244-246)Gaa>Aaa		erythrocyte membrane protein band 4.1 like 4A							224.0	209.0	214.0					5																	111615981		1850	4099	5949	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111615981C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.244G>A	5.37:g.111615981C>T	ENSP00000261486:p.Glu82Lys						p.E82K	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	3	520	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	82			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.244G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455780	0.43634	.	.	ENSG00000129595	ENST00000261486	T	0.75589	-0.95	5.74	5.74	0.90152	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.065340	0.64402	D	0.000005	T	0.52403	0.1732	N	0.00894	-1.105	0.40684	D	0.982336	P	0.47253	0.892	P	0.48488	0.579	T	0.61559	-0.7038	10	0.02654	T	1	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	82	Q9HCS5	E41LA_HUMAN	K	82	ENSP00000261486:E82K	ENSP00000261486:E82K	E	-	1	0	EPB41L4A	111643880	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.005000	0.70716	2.715000	0.92844	0.655000	0.94253	GAA		0.378	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			218	947	0	0	0	1	0	218	947				
TCEB2	6923	broad.mit.edu	37	16	2822078	2822078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2822078G>A	ENST00000409906.4	-	4	327	c.270C>T	c.(268-270)atC>atT	p.I90I	AC092117.2_ENST00000581119.1_RNA|TCEB2_ENST00000572954.1_Missense_Mutation_p.S55L|TCEB2_ENST00000262306.7_Silent_p.I90I|TCEB2_ENST00000409477.1_Silent_p.I85I	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	90					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)	p.I90I(1)		endometrium(2)|prostate(1)	3						AAAACGGCTCGATGCACAGGG	0.612																																					GBM(141;5215 5962)	ENST00000572954.1																			1	Substitution - coding silent(1)	p.I90I(1)	endometrium(1)	endometrium(2)|prostate(1)	3						c.(163-165)tCg>tTg		transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)							32.0	31.0	31.0					16																	2822078		2198	4300	6498	SO:0001819	synonymous_variant	6923				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr16:2822078G>A	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"""transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"""			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.270C>T	16.37:g.2822078G>A						TCEB2_ENST00000409906.4_Silent_p.I90I|TCEB2_ENST00000409477.1_Silent_p.I85I|TCEB2_ENST00000262306.7_Silent_p.I90I	p.S55L			Q15370	ELOB_HUMAN			3	196	-			0			Ubiquitin-like.		B7WPD3	Missense_Mutation	SNP	ENST00000409906.4	37	c.164C>T	CCDS45387.1																																																																																				0.612	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108		13	165	0	0	0	1	0	13	165				
TLR1	7096	broad.mit.edu	37	4	38798201	38798201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38798201G>A	ENST00000502213.2	-	3	2481	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.A751V			Q15399	TLR1_HUMAN	toll-like receptor 1	751	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGTCCTCCTGGCCATGAGACT	0.443																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(2251-2253)gCc>gTc		toll-like receptor 1							114.0	108.0	110.0					4																	38798201		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798201G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2252C>T	4.37:g.38798201G>A	ENSP00000421259:p.Ala751Val					TLR1_ENST00000502213.2_Missense_Mutation_p.A751V	p.A751V	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	2525	-			751			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.2252C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838515	0.32513	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	D;D	0.83419	-1.72;-1.72	5.2	3.44	0.39384	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.292074	0.28135	N	0.016470	D	0.83547	0.5278	M	0.71581	2.175	0.37433	D	0.914121	P	0.41929	0.765	P	0.45794	0.493	D	0.85029	0.0916	10	0.72032	D	0.01	.	10.1212	0.42621	0.0714:0.0:0.7915:0.1371	.	751	Q15399	TLR1_HUMAN	V	751	ENSP00000354932:A751V;ENSP00000421259:A751V	ENSP00000354932:A751V	A	-	2	0	TLR1	38474596	0.270000	0.24152	0.617000	0.29091	0.051000	0.14879	1.387000	0.34430	0.677000	0.31305	-0.251000	0.11542	GCC		0.443	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			73	315	0	0	0	1	0	73	315				
UBR4	23352	broad.mit.edu	37	1	19500066	19500066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19500066C>T	ENST00000375254.3	-	23	3059	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	UBR4_ENST00000375226.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375267.2_Missense_Mutation_p.G1011E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1011					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTAAAATTCCTAGGATCCT	0.458																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(3031-3033)gGa>gAa		ubiquitin protein ligase E3 component n-recognin 4							108.0	100.0	103.0					1																	19500066		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19500066C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3032G>A	1.37:g.19500066C>T	ENSP00000364403:p.Gly1011Glu					UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375226.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375254.3_Missense_Mutation_p.G1011E	p.G1011E			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	23	3035	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1011					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3032G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384326	0.82792	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.40543	1.245	0.80722	D	1	P	0.47106	0.89	B	0.42245	0.381	T	0.27706	-1.0066	10	0.31617	T	0.26	.	19.1194	0.93357	0.0:1.0:0.0:0.0	.	1011	Q5T4S7	UBR4_HUMAN	E	1011;1011;1011;1011;227	ENSP00000364403:G1011E;ENSP00000364416:G1011E;ENSP00000364365:G1011E;ENSP00000364374:G1011E	ENSP00000364365:G1011E	G	-	2	0	UBR4	19372653	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.484000	0.81180	2.605000	0.88082	0.655000	0.94253	GGA		0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	186	0	0	0	1	0	8	186				
ZNF100	163227	broad.mit.edu	37	19	21910465	21910465	+	Missense_Mutation	SNP	G	G	A	rs202116657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21910465G>A	ENST00000358296.6	-	5	847	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGGTGTAAAAGCATGCAAAAT	0.303																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(649-651)Ctt>Ttt		zinc finger protein 100							54.0	57.0	56.0					19																	21910465		2066	4230	6296	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910465G>A	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.649C>T	19.37:g.21910465G>A	ENSP00000351042:p.Leu217Phe					ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	p.L217F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	847	-			217					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.649C>T	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	2.310	-0.358056	0.05138	.	.	ENSG00000197020	ENST00000358296	T	0.01005	5.45	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00784	0.0026	L	0.28649	0.875	0.09310	N	1	B;B	0.21688	0.043;0.059	B;B	0.27715	0.039;0.082	T	0.46555	-0.9183	9	0.08599	T	0.76	.	6.7097	0.23270	0.0:0.0:0.7206:0.2794	.	217;271	Q8IYN0;Q4G131	ZN100_HUMAN;.	F	217	ENSP00000351042:L217F	ENSP00000351042:L217F	L	-	1	0	ZNF100	21702305	.	.	0.006000	0.13384	0.171000	0.22731	.	.	-0.656000	0.05380	0.174000	0.16983	CTT		0.303	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		42	219	0	0	0	1	0	42	219				
KIAA1462	57608	broad.mit.edu	37	10	30317872	30317872	+	Missense_Mutation	SNP	C	C	T	rs78646257	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317872C>T	ENST00000375377.1	-	3	1306	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	402	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGAGGCAAGCGGGGGCTCAC	0.587													C|||	7	0.00139776	0.0	0.0	5008	,	,		17711	0.006		0.001	False		,,,				2504	0.0					ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1204-1206)cGc>cAc		KIAA1462		C	HIS/ARG	2,3896		0,2,1947	62.0	68.0	66.0		1205	-1.1	0.0	10	dbSNP_131	66	13,8253		0,13,4120	yes	missense	KIAA1462	NM_020848.2	29	0,15,6067	TT,TC,CC		0.1573,0.0513,0.1233	benign	402/1360	30317872	15,12149	1949	4133	6082	SO:0001583	missense	57608							g.chr10:30317872C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1205G>A	10.37:g.30317872C>T	ENSP00000364526:p.Arg402His						p.R402H	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	1306	-			402			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1205G>A	CCDS41500.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	9.565	1.119386	0.20877	5.13E-4	0.001573	ENSG00000165757	ENST00000375377	T	0.12039	2.72	5.28	-1.06	0.10002	.	1.047670	0.07427	N	0.895065	T	0.06462	0.0166	L	0.41236	1.265	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.42965	-0.9420	10	0.13853	T	0.58	-0.674	4.8785	0.13668	0.1576:0.29:0.0:0.5523	.	402	Q9P266	K1462_HUMAN	H	402	ENSP00000364526:R402H	ENSP00000364526:R402H	R	-	2	0	KIAA1462	30357878	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.357000	0.07651	-0.251000	0.09542	0.561000	0.74099	CGC		0.587	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		121	544	0	0	0	1	0	121	544				
ARHGAP31	57514	broad.mit.edu	37	3	119133927	119133927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119133927G>T	ENST00000264245.4	+	12	3683	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1051					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACACACCTGGGGCACAGCAG	0.602																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3151-3153)Ggg>Tgg		Rho GTPase activating protein 31							117.0	132.0	127.0					3																	119133927		2128	4238	6366	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133927G>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3151G>T	3.37:g.119133927G>T	ENSP00000264245:p.Gly1051Trp						p.G1051W	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3683	+			1051					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3151G>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709532	0.30322	.	.	ENSG00000031081	ENST00000264245	T	0.06608	3.28	5.39	1.34	0.21922	.	0.947823	0.08777	N	0.895302	T	0.04363	0.0120	N	0.24115	0.695	0.09310	N	1	P	0.52463	0.953	B	0.39971	0.315	T	0.39035	-0.9633	10	0.66056	D	0.02	.	3.8652	0.09013	0.1481:0.2452:0.4921:0.1147	.	1051	Q2M1Z3	RHG31_HUMAN	W	1051	ENSP00000264245:G1051W	ENSP00000264245:G1051W	G	+	1	0	ARHGAP31	120616617	0.001000	0.12720	0.000000	0.03702	0.842000	0.47809	0.926000	0.28804	0.376000	0.24707	0.655000	0.94253	GGG		0.602	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			89	800	1	0	3.24273e-39	1	3.91873e-39	89	800				
RUSC1	23623	broad.mit.edu	37	1	155297964	155297964	+	Missense_Mutation	SNP	C	C	T	rs376498049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155297964C>T	ENST00000368352.5	+	9	2589	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	813					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGCTGCCCCCGACAGTGAGT	0.582																																						ENST00000368352.5																			6	Substitution - Missense(6)	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)	lung(3)|kidney(3)	breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2437-2439)cCg>cTg		RUN and SH3 domain containing 1		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	153.0	158.0	156.0		2438,2120,1208,1031	5.2	1.0	1		156	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RUSC1	NM_001105203.1,NM_001105204.1,NM_001105205.1,NM_014328.3	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	813/903,707/797,403/493,344/434	155297964	1,13005	2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155297964C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2438C>T	1.37:g.155297964C>T	ENSP00000357336:p.Pro813Leu					RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L	p.P813L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	2589	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		813					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2438C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317388	0.10845	0.0	1.16E-4	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.29655	2.05;1.99;1.56;1.6;1.6	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000037	T	0.26304	0.0642	L	0.34521	1.04	0.80722	D	1	D;D;D;P;P;D	0.71674	0.997;0.998;0.992;0.937;0.46;0.984	P;P;P;B;B;B	0.60117	0.742;0.869;0.619;0.267;0.234;0.327	T	0.01071	-1.1461	10	0.17832	T	0.49	-16.3888	14.3078	0.66395	0.0:1.0:0.0:0.0	.	311;344;238;403;312;813	B4DQB8;Q9BVN2-2;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;RUSC1_HUMAN	L	707;813;403;344;344	ENSP00000357338:P707L;ENSP00000357336:P813L;ENSP00000357331:P403L;ENSP00000357333:P344L;ENSP00000292254:P344L	ENSP00000292254:P344L	P	+	2	0	RUSC1	153564588	0.916000	0.31088	0.991000	0.47740	0.524000	0.34500	3.985000	0.56930	2.837000	0.97791	0.591000	0.81541	CCG		0.582	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			360	1002	0	0	0	1	0	360	1002				
TSSC1	7260	broad.mit.edu	37	2	3261074	3261074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3261074C>A	ENST00000382125.4	-	4	604	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	TSSC1_ENST00000398659.4_Missense_Mutation_p.A165S|TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	138										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TCCTACCAGGCCATGTTGCCA	0.557																																					Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(493-495)Gcc>Tcc		tumor suppressing subtransferable candidate 1							89.0	80.0	83.0					2																	3261074		2203	4300	6503	SO:0001583	missense	7260						protein binding	g.chr2:3261074C>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.412G>T	2.37:g.3261074C>A	ENSP00000371559:p.Ala138Ser					TSSC1_ENST00000382125.4_Missense_Mutation_p.A138S|TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S|TSSC1_ENST00000478754.1_5'UTR	p.A165S			Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	5	633	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	138					D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.493G>T	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441202	0.43326	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.12774	2.65;2.65;2.65	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.049431	0.85682	D	0.000000	T	0.10121	0.0248	L	0.28115	0.83	0.80722	D	1	B	0.28258	0.205	B	0.20955	0.032	T	0.09357	-1.0678	10	0.06891	T	0.86	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	138	Q53HC9	TSSC1_HUMAN	S	138;165;138	ENSP00000371559:A138S;ENSP00000381652:A165S;ENSP00000389080:A138S	ENSP00000371559:A138S	A	-	1	0	TSSC1	3240081	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.634000	0.61325	2.626000	0.88956	0.650000	0.86243	GCC		0.557	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		51	208	1	0	1.46357e-32	1	1.7291e-32	51	208				
LZTS3	9762	broad.mit.edu	37	20	3146582	3146582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3146582C>T	ENST00000329152.3	-	2	2281	c.884G>A	c.(883-885)gGc>gAc	p.G295D	LZTS3_ENST00000337576.5_Missense_Mutation_p.G295D|LZTS3_ENST00000360342.3_Missense_Mutation_p.G295D			O60299	LZTS3_HUMAN		295						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GCCCAGGTGGCCTGGCCGCCC	0.706																																						ENST00000329152.3																			0											c.(883-885)gGc>gAc									22.0	23.0	23.0					20																	3146582		2182	4238	6420	SO:0001583	missense	0							g.chr20:3146582C>T																												ENST00000329152.3:c.884G>A	20.37:g.3146582C>T	ENSP00000332123:p.Gly295Asp					LZTS3_ENST00000360342.3_Missense_Mutation_p.G295D|LZTS3_ENST00000337576.5_Missense_Mutation_p.G295D	p.G295D	NM_014731.2	NP_055546.1					2	2281	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.884G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781651	0.70222	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.44881	0.91;1.45;1.45	5.46	4.42	0.53409	.	0.153278	0.31051	N	0.008350	T	0.22126	0.0533	N	0.24115	0.695	0.33561	D	0.59738	B;B	0.24426	0.103;0.063	B;B	0.25291	0.059;0.012	T	0.23048	-1.0199	10	0.12103	T	0.63	-17.3486	3.529	0.07770	0.0:0.6414:0.0:0.3585	.	295;295	O60299-2;O60299	.;PRIP1_HUMAN	D	295	ENSP00000332123:G295D;ENSP00000353496:G295D;ENSP00000338166:G295D	ENSP00000332123:G295D	G	-	2	0	RP5-1187M17.10	3094582	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.540000	0.60664	2.556000	0.86216	0.561000	0.74099	GGC		0.706	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			44	233	0	0	0	1	0	44	233				
CEBPZ	10153	broad.mit.edu	37	2	37454709	37454709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454709G>A	ENST00000234170.5	-	2	1772	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	543					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GTGTAATATCGATCCGATATT	0.378																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1627-1629)Cga>Tga		CCAAT/enhancer binding protein (C/EBP), zeta							112.0	114.0	113.0					2																	37454709		2203	4300	6503	SO:0001587	stop_gained	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454709G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1627C>T	2.37:g.37454709G>A	ENSP00000234170:p.Arg543*						p.R543*	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1772	-		all_hematologic(82;0.21)	543					Q8NE75	Nonsense_Mutation	SNP	ENST00000234170.5	37	c.1627C>T	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	39	7.375508	0.98245	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7983	0.63184	0.0:0.0:0.7444:0.2555	.	.	.	.	X	543	.	ENSP00000234170:R543X	R	-	1	2	CEBPZ	37308213	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	5.836000	0.69375	2.694000	0.91930	0.585000	0.79938	CGA		0.378	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		181	508	0	0	0	1	0	181	508				
CSTF3	1479	broad.mit.edu	37	11	33123884	33123884	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33123884T>G	ENST00000323959.4	-	10	804	c.665A>C	c.(664-666)gAa>gCa	p.E222A	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	222					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCTCATATTCCTAGACAAC	0.433																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.e10-1		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							75.0	69.0	71.0					11																	33123884		2202	4298	6500	SO:0001630	splice_region_variant	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33123884T>G	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.664-1A>C	11.37:g.33123884T>G						TCP11L1_ENST00000324357.9_Intron	p.E222_splice	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			10	804	-			222					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Splice_Site	SNP	ENST00000323959.4	37	c.663_splice	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779812	0.70222	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.56199	1.76	0.80722	D	1	B	0.20780	0.048	B	0.26202	0.067	T	0.13255	-1.0516	10	0.40728	T	0.16	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	222	Q12996	CSTF3_HUMAN	A	222;155	ENSP00000315791:E222A	ENSP00000315791:E222A	E	-	2	0	CSTF3	33080460	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.035000	0.88872	2.205000	0.71048	0.482000	0.46254	GAA		0.433	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326	Missense_Mutation	68	172	0	0	0	1	0	68	172				
CLMP	79827	broad.mit.edu	37	11	122944425	122944425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122944425G>A	ENST00000448775.2	-	7	1219	c.879C>T	c.(877-879)ggC>ggT	p.G293G	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	293	Ser-rich.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AGCTCCGAGAGCCTGAGGAAG	0.542																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(877-879)ggC>ggT		CXADR-like membrane protein							103.0	102.0	102.0					11																	122944425		2202	4299	6501	SO:0001819	synonymous_variant	79827					integral to membrane|tight junction		g.chr11:122944425G>A	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.879C>T	11.37:g.122944425G>A						CLMP_ENST00000530371.1_5'UTR	p.G293G	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			7	1219	-			293			Ser-rich.			Silent	SNP	ENST00000448775.2	37	c.879C>T	CCDS8441.1																																																																																				0.542	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		118	556	0	0	0	1	0	118	556				
KRT2	3849	broad.mit.edu	37	12	53040535	53040535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53040535G>A	ENST00000309680.3	-	7	1479	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	486	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCACTCCTCGCCCTCCAGCA	0.622																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1456-1458)ggC>ggT		keratin 2							85.0	77.0	79.0					12																	53040535		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53040535G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1458C>T	12.37:g.53040535G>A							p.G486G	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	7	1479	-			486			Coil 2.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.1458C>T	CCDS8835.1																																																																																				0.622	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		44	555	0	0	0	1	0	44	555				
IRX2	153572	broad.mit.edu	37	5	2749615	2749615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749615G>A	ENST00000382611.6	-	2	784	c.536C>T	c.(535-537)aCc>aTc	p.T179I	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.T179I|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	179					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T179>I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGCCCAGGTCATCTTGTT	0.602																																						ENST00000382611.6																			1	Complex - compound substitution(1)	p.T179>I(1)	skin(1)	breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(535-537)aCc>aTc		iroquois homeobox 2							141.0	133.0	135.0					5																	2749615		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749615G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.536C>T	5.37:g.2749615G>A	ENSP00000372056:p.Thr179Ile					IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.T179I	p.T179I	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	784	-			179					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.536C>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026629	0.93518	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83591	-1.74;-1.74;-1.74	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91229	0.7236	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92552	0.6051	10	0.87932	D	0	-29.3434	17.9697	0.89110	0.0:0.0:1.0:0.0	.	179	Q9BZI1	IRX2_HUMAN	I	179;179;86	ENSP00000372056:T179I;ENSP00000307006:T179I;ENSP00000426151:T86I	ENSP00000307006:T179I	T	-	2	0	IRX2	2802615	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	9.367000	0.97148	2.239000	0.73571	0.655000	0.94253	ACC		0.602	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			103	437	0	0	0	1	0	103	437				
TMUB2	79089	broad.mit.edu	37	17	42266863	42266863	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42266863G>A	ENST00000587989.1	+	3	662	c.509G>A	c.(508-510)aGc>aAc	p.S170N	TMUB2_ENST00000319511.6_Missense_Mutation_p.S150N|TMUB2_ENST00000592825.1_Intron|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	170						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCCCTCCCAGCCCTGGCCTC	0.602																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(448-450)aGc>aAc		transmembrane and ubiquitin-like domain containing 2							48.0	48.0	48.0					17																	42266863		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42266863G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.509G>A	17.37:g.42266863G>A	ENSP00000466971:p.Ser170Asn					TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.S170N|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N	p.S150N	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	1099	+		Breast(137;0.00765)|Prostate(33;0.0181)	170					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.449G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752706	0.15778	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.64	3.43	0.39272	.	0.509177	0.22384	N	0.060766	T	0.23410	0.0566	N	0.16478	0.41	0.09310	N	0.999993	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.07065	-1.0792	10	0.31617	T	0.26	-6.288	7.3111	0.26475	0.1962:0.0:0.8038:0.0	.	113;150;170	E7ESS3;Q71RG4-3;Q71RG4	.;.;TMUB2_HUMAN	N	113;150;170;150	ENSP00000413127:S113N;ENSP00000350672:S150N;ENSP00000444565:S170N;ENSP00000313214:S150N	ENSP00000313214:S150N	S	+	2	0	TMUB2	39622389	0.579000	0.26725	0.836000	0.33094	0.850000	0.48378	2.586000	0.46119	2.128000	0.65567	0.561000	0.74099	AGC		0.602	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		41	314	0	0	0	1	0	41	314				
TNNI2	7136	broad.mit.edu	37	11	1862727	1862727	+	Silent	SNP	C	C	T	rs199474800		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862727C>T	ENST00000381906.1	+	8	564	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_ENST00000381911.1_Silent_p.I165I|TNNI2_ENST00000252898.7_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	165					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAAGAACATCGAGGAGAAGT	0.642																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(493-495)atC>atT		troponin I type 2 (skeletal, fast)							231.0	188.0	203.0					11																	1862727		2202	4299	6501	SO:0001819	synonymous_variant	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862727C>T	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.495C>T	11.37:g.1862727C>T						TNNI2_ENST00000381911.1_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I|TNNI2_ENST00000252898.7_Silent_p.I165I	p.I165I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	8	564	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	165					A6NIV8|A6NJU5	Silent	SNP	ENST00000381906.1	37	c.495C>T	CCDS31333.1																																																																																				0.642	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		65	289	0	0	0	1	0	65	289				
CEP41	95681	broad.mit.edu	37	7	130067795	130067795	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130067795C>T	ENST00000223208.5	-	2	368		c.e2+1		CEP41_ENST00000495702.1_Splice_Site|CEP41_ENST00000541543.1_Splice_Site|CEP41_ENST00000489512.1_Splice_Site|CEP41_ENST00000343969.5_Splice_Site	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TCTTTACTCACCAGTGTCCAG	0.308																																						ENST00000223208.4																			0											c.e2+1		centrosomal protein 41kDa							75.0	75.0	75.0					7																	130067795		2203	4300	6503	SO:0001630	splice_region_variant	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130067795C>T	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.97+1G>A	7.37:g.130067795C>T						CEP41_ENST00000489512.1_Splice_Site|CEP41_ENST00000343969.5_Splice_Site|CEP41_ENST00000541543.1_Splice_Site|CEP41_ENST00000495702.1_Splice_Site		NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			2	368	-								A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Splice_Site	SNP	ENST00000223208.5	37		CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726472	0.69074	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000477003;ENST00000469826;ENST00000489512	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0257	0.71669	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSGA14	129855031	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.001000	0.57046	2.616000	0.88540	0.591000	0.81541	.		0.308	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718	Intron	17	151	0	0	0	1	0	17	151				
PRICKLE2	166336	broad.mit.edu	37	3	64085080	64085080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085080G>A	ENST00000295902.6	-	8	2767	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	728	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCCGCTGGCGCATAAATTGG	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2182-2184)Cgc>Tgc		prickle homolog 2 (Drosophila)							46.0	50.0	48.0					3																	64085080		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085080G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2182C>T	3.37:g.64085080G>A	ENSP00000295902:p.Arg728Cys					PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C	p.R728C	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2767	-		Lung NSC(201;0.136)	728			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2182C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404454	0.42613	.	.	ENSG00000163637	ENST00000295902	D	0.84873	-1.91	5.33	5.33	0.75918	.	0.236745	0.37669	N	0.001984	T	0.76572	0.4006	N	0.22421	0.69	0.45930	D	0.998765	P	0.41978	0.767	B	0.34452	0.183	T	0.78868	-0.2034	10	0.45353	T	0.12	-43.1434	19.3767	0.94512	0.0:0.0:1.0:0.0	.	728	Q7Z3G6	PRIC2_HUMAN	C	728	ENSP00000295902:R728C	ENSP00000295902:R728C	R	-	1	0	PRICKLE2	64060120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.328000	0.52052	2.651000	0.90000	0.591000	0.81541	CGC		0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		49	375	0	0	0	1	0	49	375				
HSD11B1	3290	broad.mit.edu	37	1	209879197	209879197	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209879197A>G	ENST00000367028.2	+	3	299	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	44					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AGGGGCCAGCAAAGGGATCGG	0.507																																						ENST00000367028.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.(130-132)Aaa>Gaa		hydroxysteroid (11-beta) dehydrogenase 1	NADH(DB00157)						126.0	122.0	123.0					1																	209879197		2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209879197A>G	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.130A>G	1.37:g.209879197A>G	ENSP00000355995:p.Lys44Glu					HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E|HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA	p.K44E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	3	299	+			44					B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.130A>G	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633986	0.47049	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	T;T;T	0.51574	0.7;0.7;0.7	3.95	3.95	0.45737	NAD(P)-binding domain (1);	0.312885	0.31834	N	0.006993	T	0.31482	0.0798	N	0.25957	0.775	0.35651	D	0.811754	B	0.33583	0.418	B	0.30105	0.111	T	0.46978	-0.9152	10	0.59425	D	0.04	.	9.0331	0.36271	0.8352:0.0:0.0:0.1647	.	44	P28845	DHI1_HUMAN	E	44	ENSP00000355995:K44E;ENSP00000261465:K44E;ENSP00000355994:K44E	ENSP00000261465:K44E	K	+	1	0	HSD11B1	207945820	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.909000	0.63314	1.746000	0.51805	0.363000	0.22086	AAA		0.507	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		113	272	0	0	0	1	0	113	272				
ATP9B	374868	broad.mit.edu	37	18	77037156	77037156	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77037156G>T	ENST00000426216.2	+	13	1388	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	457					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTATCCCAGAGGAACTTGGGC	0.453																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(1369-1371)gaG>gaT		ATPase, class II, type 9B							155.0	142.0	146.0					18																	77037156		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77037156G>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1371G>T	18.37:g.77037156G>T	ENSP00000398076:p.Glu457Asp					ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	p.E457D	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	13	1388	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	457					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.1371G>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	g	19.56	3.850651	0.71719	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.94723	-3.5;-3.5	5.4	-1.31	0.09230	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.972;0.987	D	0.94917	0.8070	10	0.87932	D	0	.	11.5903	0.50941	0.6405:0.0:0.3595:0.0	.	457;457	O43861;O43861-2	ATP9B_HUMAN;.	D	457	ENSP00000398076:E457D;ENSP00000304500:E457D	ENSP00000304500:E457D	E	+	3	2	ATP9B	75138144	0.711000	0.27906	0.931000	0.37212	0.900000	0.52787	-0.034000	0.12225	-0.207000	0.10187	-0.119000	0.15052	GAG		0.453	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		87	434	1	0	5.42381e-49	1	6.70277e-49	87	434				
DMXL1	1657	broad.mit.edu	37	5	118469685	118469685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118469685G>T	ENST00000311085.8	+	12	2146	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	689										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAAATAAAAGCACTGTTGAC	0.423																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(2065-2067)aGc>aTc		Dmx-like 1							120.0	117.0	118.0					5																	118469685		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118469685G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2066G>T	5.37:g.118469685G>T	ENSP00000309690:p.Ser689Ile					DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	p.S689I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2146	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	689						Missense_Mutation	SNP	ENST00000311085.8	37	c.2066G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	6.734	0.504230	0.12822	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01388	4.95;4.95	5.53	2.75	0.32379	WD40/YVTN repeat-like-containing domain (1);	0.491773	0.26075	N	0.026490	T	0.01592	0.0051	L	0.40543	1.245	0.25668	N	0.985924	B;B	0.27853	0.191;0.037	B;B	0.28709	0.093;0.043	T	0.46034	-0.9220	9	.	.	.	-0.7137	10.1344	0.42697	0.2742:0.0:0.7258:0.0	.	689;689	F5H269;Q9Y485	.;DMXL1_HUMAN	I	689	ENSP00000309690:S689I;ENSP00000439479:S689I	.	S	+	2	0	DMXL1	118497584	0.045000	0.20229	0.991000	0.47740	0.398000	0.30690	0.219000	0.17641	0.700000	0.31782	0.460000	0.39030	AGC		0.423	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		27	487	1	0	1.12875e-08	1	1.18168e-08	27	487				
PPIG	9360	broad.mit.edu	37	2	170493763	170493763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493763C>T	ENST00000260970.3	+	14	2215	c.1995C>T	c.(1993-1995)taC>taT	p.Y665Y	PPIG_ENST00000409714.3_Silent_p.Y650Y|PPIG_ENST00000448752.2_Silent_p.Y665Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	665					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGAATGTACTCTAAAAGTC	0.358																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1993-1995)taC>taT		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						71.0	75.0	73.0					2																	170493763		2202	4300	6502	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493763C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1995C>T	2.37:g.170493763C>T						PPIG_ENST00000448752.2_Silent_p.Y665Y|PPIG_ENST00000409714.3_Silent_p.Y650Y	p.Y665Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2215	+			665					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.1995C>T	CCDS2235.1																																																																																				0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			77	192	0	0	0	1	0	77	192				
ZKSCAN2	342357	broad.mit.edu	37	16	25258585	25258585	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25258585A>C	ENST00000328086.7	-	5	1735	c.932T>G	c.(931-933)gTt>gGt	p.V311G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	311					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AATAGCATGAACTGACTTTTC	0.473																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(931-933)gTt>gGt		zinc finger with KRAB and SCAN domains 2							131.0	118.0	123.0					16																	25258585		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258585A>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.932T>G	16.37:g.25258585A>C	ENSP00000331626:p.Val311Gly						p.V311G	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	1735	-			311					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.932T>G	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	7.519	0.656243	0.14580	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07444	3.19	5.76	3.34	0.38264	.	0.246896	0.28241	N	0.016079	T	0.10895	0.0266	L	0.38175	1.15	0.52099	D	0.999948	B;P;B	0.51791	0.0;0.948;0.001	B;P;B	0.53861	0.001;0.736;0.003	T	0.13019	-1.0525	10	0.38643	T	0.18	-10.3527	5.4928	0.16785	0.6867:0.2218:0.0915:0.0	.	107;311;311	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	G	311	ENSP00000331626:V311G	ENSP00000331626:V311G	V	-	2	0	ZKSCAN2	25166086	0.001000	0.12720	0.920000	0.36463	0.744000	0.42396	0.351000	0.20096	1.109000	0.41680	0.533000	0.62120	GTT		0.473	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		73	354	0	0	0	1	0	73	354				
PIEZO2	63895	broad.mit.edu	37	18	10697835	10697835	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10697835A>C	ENST00000503781.3	-	41	6398	c.6399T>G	c.(6397-6399)gtT>gtG	p.V2133V	PIEZO2_ENST00000580640.1_Silent_p.V2158V|PIEZO2_ENST00000538948.1_Silent_p.V90V|PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000302079.6_Silent_p.V2133V	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2133	Ser-rich.				cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TAATACTCAAAACACTGCTTC	0.393																																						ENST00000302079.6																			0											c.(6397-6399)gtT>gtG		piezo-type mechanosensitive ion channel component 2							112.0	105.0	108.0					18																	10697835		2202	4300	6502	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10697835A>C	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6399T>G	18.37:g.10697835A>C						PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000580640.1_Silent_p.V2158V|PIEZO2_ENST00000538948.1_Silent_p.V90V|PIEZO2_ENST00000503781.3_Silent_p.V2133V	p.V2133V			Q9H5I5	PIEZ2_HUMAN			41	6398	-			2133			Ser-rich.		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.6399T>G																																																																																					0.393	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		28	157	0	0	0	1	0	28	157				
HTR5A	3361	broad.mit.edu	37	7	154863276	154863276	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863276A>T	ENST00000287907.2	+	1	1243	c.667A>T	c.(667-669)Atc>Ttc	p.I223F	HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	223					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTACTGGAAGATCTACAAGGC	0.567																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(667-669)Atc>Ttc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							80.0	75.0	77.0					7																	154863276		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863276A>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.667A>T	7.37:g.154863276A>T	ENSP00000287907:p.Ile223Phe						p.I223F	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1243	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	223					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.667A>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270334	0.80469	.	.	ENSG00000157219	ENST00000287907	T	0.57436	0.4	4.76	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.048431	0.85682	D	0.000000	T	0.79375	0.4435	H	0.97564	4.03	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	T	0.83349	-0.0004	10	0.87932	D	0	.	10.1703	0.42906	0.9222:0.0:0.0778:0.0	.	223	P47898	5HT5A_HUMAN	F	223	ENSP00000287907:I223F	ENSP00000287907:I223F	I	+	1	0	HTR5A	154494209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.800000	0.69108	0.874000	0.35823	0.528000	0.53228	ATC		0.567	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		32	205	0	0	0	1	0	32	205				
GPR152	390212	broad.mit.edu	37	11	67219976	67219976	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219976C>T	ENST00000312457.2	-	1	224	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000325656.5_5'Flank|CABP4_ENST00000438189.2_5'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCAGAGAGGGCCAGGCTGAGC	0.672																																					Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(220-222)Gcc>Acc		G protein-coupled receptor 152							17.0	18.0	18.0					11																	67219976		2200	4291	6491	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219976C>T	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.220G>A	11.37:g.67219976C>T	ENSP00000310255:p.Ala74Thr					CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR	p.A74T	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	224	-			74					Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.220G>A	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358546	0.95854	.	.	ENSG00000175514	ENST00000312457	T	0.56103	0.48	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001330	T	0.67674	0.2918	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.70490	-0.4857	10	0.87932	D	0	.	15.6211	0.76808	0.0:1.0:0.0:0.0	.	74	Q8TDT2	GP152_HUMAN	T	74	ENSP00000310255:A74T	ENSP00000310255:A74T	A	-	1	0	GPR152	66976552	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.199000	0.58426	2.542000	0.85734	0.561000	0.74099	GCC		0.672	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			6	93	0	0	0	1	0	6	93				
TTC33	23548	broad.mit.edu	37	5	40716255	40716255	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40716255C>A	ENST00000337702.4	-	5	933	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	261										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTTCATCGGGCTTTGATAAAA	0.393																																						ENST00000337702.4																			0				NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(781-783)Gcc>Tcc		tetratricopeptide repeat domain 33							68.0	57.0	61.0					5																	40716255		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40716255C>A	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.781G>T	5.37:g.40716255C>A	ENSP00000338533:p.Ala261Ser					TTC33_ENST00000503936.2_5'UTR	p.A261S	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN			5	933	-			261					B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.781G>T	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808046	0.90707	.	.	ENSG00000113638	ENST00000337702	T	0.41065	1.01	5.34	5.34	0.76211	.	0.095158	0.64402	D	0.000001	T	0.62998	0.2474	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.65865	-0.6064	10	0.87932	D	0	-12.367	19.0383	0.92987	0.0:1.0:0.0:0.0	.	261	Q6PID6	TTC33_HUMAN	S	261	ENSP00000338533:A261S	ENSP00000338533:A261S	A	-	1	0	TTC33	40752012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.486000	0.83907	0.650000	0.86243	GCC		0.393	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		5	156	1	0	1.024e-07	1	1.06599e-07	5	156				
OR51D1	390038	broad.mit.edu	37	11	4661117	4661117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661117G>T	ENST00000357605.2	+	1	173	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTGGCCTGGGGCCTACCAT	0.512																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(97-99)Ggg>Tgg		olfactory receptor, family 51, subfamily D, member 1							174.0	146.0	156.0					11																	4661117		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661117G>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.97G>T	11.37:g.4661117G>T	ENSP00000350222:p.Gly33Trp						p.G33W	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	173	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	33					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.97G>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277092	0.23307	.	.	ENSG00000197428	ENST00000357605	T	0.00330	8.08	4.84	3.92	0.45320	.	0.150320	0.30989	N	0.008463	T	0.00356	0.0011	N	0.08118	0	0.34857	D	0.742262	D	0.76494	0.999	D	0.71184	0.972	D	0.87192	0.2235	10	0.87932	D	0	.	14.2248	0.65850	0.0:0.1507:0.8493:0.0	.	33	Q8NGF3	O51D1_HUMAN	W	33	ENSP00000350222:G33W	ENSP00000350222:G33W	G	+	1	0	OR51D1	4617693	1.000000	0.71417	0.226000	0.23910	0.003000	0.03518	3.193000	0.50997	1.378000	0.46305	-0.300000	0.09419	GGG		0.512	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		123	465	1	0	3.44186e-60	1	4.32629e-60	123	465				
FGFR1OP	11116	broad.mit.edu	37	6	167416734	167416734	+	Splice_Site	SNP	C	C	T	rs146065090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167416734C>T	ENST00000366847.4	+	3	441	c.210C>T	c.(208-210)gaC>gaT	p.D70D	FGFR1OP_ENST00000476078.1_3'UTR|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	70	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATACCAAAGACGGTAAGATGT	0.294			T	FGFR1	"""MPD, NHL"""																																	ENST00000366847.3				Dom	yes		6	6q27	11116	T	FGFR1 oncogene partner (FOP)			L	FGFR1		"""MPD, NHL"""		0				large_intestine(2)|ovary(1)|stomach(1)	4						c.e3+1		FGFR1 oncogene partner		C	,	0,4406		0,0,2203	68.0	75.0	73.0		210,210	0.3	1.0	6	dbSNP_134	73	5,8569	3.0+/-9.4	0,5,4282	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	FGFR1OP	NM_007045.2,NM_194429.1	,	0,5,6485	TT,TC,CC		0.0583,0.0,0.0385	,	70/400,70/380	167416734	5,12975	2203	4287	6490	SO:0001630	splice_region_variant	11116				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:167416734C>T	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.211+1C>T	6.37:g.167416734C>T						FGFR1OP_ENST00000349556.4_Splice_Site_p.D70_splice|FGFR1OP_ENST00000476078.1_3'UTR	p.D70_splice	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)	3	441	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	70			LisH.		A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Splice_Site	SNP	ENST00000366847.4	37	c.211_splice	CCDS5296.1																																																																																				0.294	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	Silent	26	179	0	0	0	1	0	26	179				
PPAT	5471	broad.mit.edu	37	4	57266984	57266984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57266984G>A	ENST00000264220.2	-	8	1117	c.980C>T	c.(979-981)tCt>tTt	p.S327F	PPAT_ENST00000507648.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	327					'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)	AGGCGTAGCAGATTCTGGAAC	0.458																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(979-981)tCt>tTt		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						146.0	142.0	143.0					4																	57266984		2203	4300	6503	SO:0001583	missense	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.chr4:57266984G>A		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.980C>T	4.37:g.57266984G>A	ENSP00000264220:p.Ser327Phe						p.S327F	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			8	1117	-	Glioma(25;0.08)|all_neural(26;0.101)		327						Missense_Mutation	SNP	ENST00000264220.2	37	c.980C>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069123	0.93950	.	.	ENSG00000128059	ENST00000264220	D	0.99418	-5.87	5.64	5.64	0.86602	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.98646	4.29	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.97111	0.9804	10	0.87932	D	0	-20.5507	19.6933	0.96010	0.0:0.0:1.0:0.0	.	327	Q06203	PUR1_HUMAN	F	327	ENSP00000264220:S327F	ENSP00000264220:S327F	S	-	2	0	PPAT	56961741	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.208000	0.95075	2.662000	0.90505	0.637000	0.83480	TCT		0.458	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		144	601	0	0	0	1	0	144	601				
C6orf118	168090	broad.mit.edu	37	6	165715758	165715758	+	Missense_Mutation	SNP	G	G	A	rs191807161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715758G>A	ENST00000230301.8	-	2	73	c.53C>T	c.(52-54)aCg>aTg	p.T18M	C6orf118_ENST00000543069.1_De_novo_Start_InFrame	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	18								p.T18M(2)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CACGCCTGGCGTCTCGCAGTG	0.512													-|||	1	0.000199681	0.0	0.0014	5008	,	,		18336	0.0		0.0	False		,,,				2504	0.0					ENST00000543069.1																			2	Substitution - Missense(2)	p.T18M(2)	large_intestine(1)|prostate(1)	breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40								chromosome 6 open reading frame 118		G	MET/THR	0,4406		0,0,2203	51.0	55.0	53.0		53	-2.9	0.0	6		53	1,8599		0,1,4299	no	missense	C6orf118	NM_144980.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	18/470	165715758	1,13005	2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715758G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.53C>T	6.37:g.165715758G>A	ENSP00000230301:p.Thr18Met					C6orf118_ENST00000230301.8_Missense_Mutation_p.T18M				Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	0	322	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)						Q8TC11	Translation_Start_Site	SNP	ENST00000230301.8	37		CCDS5288.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	9.290	1.050372	0.19827	0.0	1.16E-4	ENSG00000112539	ENST00000230301	T	0.13089	2.62	4.36	-2.87	0.05700	.	0.749003	0.12202	N	0.490169	T	0.02156	0.0067	L	0.31065	0.9	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.43261	-0.9402	10	0.48119	T	0.1	.	1.2184	0.01918	0.4093:0.1572:0.2895:0.1439	.	18	Q5T5N4	CF118_HUMAN	M	18	ENSP00000230301:T18M	ENSP00000230301:T18M	T	-	2	0	C6orf118	165635748	0.001000	0.12720	0.010000	0.14722	0.007000	0.05969	0.098000	0.15189	-0.451000	0.07097	-0.224000	0.12420	ACG		0.512	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		68	315	0	0	0	1	0	68	315				
DRD1	1812	broad.mit.edu	37	5	174869427	174869427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869427G>A	ENST00000393752.2	-	2	1668	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	226					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAATGCGCCGTATTTGTTTC	0.493																																						ENST00000393752.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(676-678)Cgg>Tgg		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						124.0	121.0	122.0					5																	174869427		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869427G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.676C>T	5.37:g.174869427G>A	ENSP00000377353:p.Arg226Trp						p.R226W	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1668	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	226					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.676C>T	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637339	0.67130	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.43294	0.95	5.39	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.87932	D	0	.	13.2032	0.59780	0.0:0.0:0.7355:0.2644	.	226	P21728	DRD1_HUMAN	W	226	ENSP00000377353:R226W	ENSP00000327652:R226W	R	-	1	2	DRD1	174802033	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	2.298000	0.43602	2.688000	0.91661	0.650000	0.86243	CGG		0.493	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		113	553	0	0	0	1	0	113	553				
FAM53B	9679	broad.mit.edu	37	10	126395270	126395270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126395270G>T	ENST00000337318.3	-	2	224	c.13C>A	c.(13-15)Cta>Ata	p.L5I	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|RP11-464O2.2_ENST00000432699.1_RNA|RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	5										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTTTCACTTAGGACCATCACC	0.592																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(13-15)Cta>Ata		family with sequence similarity 53, member B							113.0	107.0	109.0					10																	126395270		2203	4300	6503	SO:0001583	missense	9679							g.chr10:126395270G>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.13C>A	10.37:g.126395270G>T	ENSP00000338532:p.Leu5Ile					RP11-464O2.2_ENST00000432699.1_RNA|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I	p.L5I	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	2	224	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	5					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.13C>A	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779685	0.31502	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.40756	1.02;1.02;1.02	4.61	3.71	0.42584	.	0.405020	0.23889	N	0.043562	T	0.41213	0.1149	N	0.24115	0.695	0.27832	N	0.941414	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.80764	0.986;0.994;0.986	T	0.24621	-1.0155	10	0.02654	T	1	-2.5053	10.2122	0.43147	0.0941:0.0:0.9059:0.0	.	5;5;5	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	I	5	ENSP00000338532:L5I;ENSP00000376509:L5I;ENSP00000280780:L5I	ENSP00000280780:L5I	L	-	1	2	FAM53B	126385260	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.337000	0.43947	1.319000	0.45190	0.655000	0.94253	CTA		0.592	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		15	525	1	0	9.16793e-09	1	9.60025e-09	15	525				
LCTL	197021	broad.mit.edu	37	15	66844115	66844115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66844115C>A	ENST00000341509.5	-	11	1540	c.1409G>T	c.(1408-1410)aGa>aTa	p.R470I	LCTL_ENST00000537670.1_Missense_Mutation_p.R297I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	470					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAATCCATATCTATCTGAGTA	0.353																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1408-1410)aGa>aTa		lactase-like							147.0	150.0	149.0					15																	66844115		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66844115C>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1409G>T	15.37:g.66844115C>A	ENSP00000343490:p.Arg470Ile					LCTL_ENST00000537670.1_Missense_Mutation_p.R297I	p.R470I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			11	1540	-			470					B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.1409G>T	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622767	0.87460	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.50277	0.75;0.75	5.77	4.86	0.63082	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.041706	0.85682	D	0.000000	T	0.79358	0.4432	H	0.98612	4.28	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	D	0.86776	0.1976	10	0.87932	D	0	-21.9098	13.1925	0.59719	0.0:0.9231:0.0:0.0769	.	470	Q6UWM7	LCTL_HUMAN	I	297;470	ENSP00000445419:R297I;ENSP00000343490:R470I	ENSP00000343490:R470I	R	-	2	0	LCTL	64631169	1.000000	0.71417	0.786000	0.31890	0.980000	0.70556	5.469000	0.66749	1.439000	0.47511	0.655000	0.94253	AGA		0.353	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		15	720	1	0	7.93312e-07	1	8.20014e-07	15	720				
TREML4	285852	broad.mit.edu	37	6	41196470	41196470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41196470C>T	ENST00000341495.2	+	2	186	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	28	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCCTGAAGAACTTCACAAACA	0.572																																						ENST00000341495.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(82-84)Ctt>Ttt		triggering receptor expressed on myeloid cells-like 4							84.0	84.0	84.0					6																	41196470		2203	4300	6503	SO:0001583	missense	285852					extracellular region		g.chr6:41196470C>T	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.82C>T	6.37:g.41196470C>T	ENSP00000342570:p.Leu28Phe					TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	p.L28F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN			2	186	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		28			Ig-like V-type.		B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	c.82C>T	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.201274	0.38905	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.68903	-0.36;-0.36	3.78	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64316	0.2587	M	0.64080	1.96	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53143	-0.8480	9	0.72032	D	0.01	-8.9772	5.2004	0.15260	0.0:0.6706:0.2107:0.1187	.	28	Q6UXN2	TRML4_HUMAN	F	28	ENSP00000342570:L28F;ENSP00000418078:L28F	ENSP00000342570:L28F	L	+	1	0	TREML4	41304448	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.330000	0.19715	0.354000	0.24105	0.591000	0.81541	CTT		0.572	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			88	388	0	0	0	1	0	88	388				
CMYA5	202333	broad.mit.edu	37	5	79026176	79026176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026176G>A	ENST00000446378.2	+	2	1619	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	530	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTAGAAGAAGAGATCGTAGA	0.418																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(1588-1590)Gag>Aag		cardiomyopathy associated 5							107.0	103.0	104.0					5																	79026176		1853	4096	5949	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026176G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1588G>A	5.37:g.79026176G>A	ENSP00000394770:p.Glu530Lys						p.E530K	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	1619	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	530			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.1588G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221654	0.58560	.	.	ENSG00000164309	ENST00000446378	T	0.63913	-0.07	5.8	5.8	0.92144	.	0.468598	0.18174	N	0.149369	T	0.61223	0.2330	L	0.36672	1.1	0.26789	N	0.969444	P	0.49253	0.921	P	0.49451	0.611	T	0.60332	-0.7284	10	0.87932	D	0	.	12.5436	0.56186	0.0759:0.0:0.9241:0.0	.	530	Q8N3K9	CMYA5_HUMAN	K	530	ENSP00000394770:E530K	ENSP00000394770:E530K	E	+	1	0	CMYA5	79061932	0.821000	0.29204	0.992000	0.48379	0.523000	0.34469	1.409000	0.34680	2.758000	0.94735	0.563000	0.77884	GAG		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		126	468	0	0	0	1	0	126	468				
BCAN	63827	broad.mit.edu	37	1	156617305	156617305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156617305G>A	ENST00000329117.5	+	4	808	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	BCAN_ENST00000361588.5_Missense_Mutation_p.V158I|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	158	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGGGGTCGTCTTTCTCTA	0.627																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(472-474)Gtc>Atc		brevican							45.0	47.0	46.0					1																	156617305		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617305G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.472G>A	1.37:g.156617305G>A	ENSP00000331210:p.Val158Ile					BCAN_ENST00000361588.5_Missense_Mutation_p.V158I|RP11-284F21.7_ENST00000448869.1_RNA	p.V158I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			4	808	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		158			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.472G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667133	0.88251	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.15	4.15	0.48705	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.51477	D	0.000090	T	0.36220	0.0959	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;0.981	D;P	0.74674	0.984;0.888	T	0.29212	-1.0019	10	0.72032	D	0.01	-24.0919	15.1361	0.72566	0.0:0.0:1.0:0.0	.	158;158	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	I	158;158;56;158	ENSP00000331210:V158I;ENSP00000389898:V158I;ENSP00000401709:V56I;ENSP00000354925:V158I	ENSP00000331210:V158I	V	+	1	0	BCAN	154883929	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.494000	0.97962	2.120000	0.65058	0.442000	0.29010	GTC		0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		49	243	0	0	0	1	0	49	243				
LIMK2	3985	broad.mit.edu	37	22	31654314	31654314	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31654314T>C	ENST00000331728.4	+	3	268	c.154T>C	c.(154-156)Tat>Cat	p.Y52H	LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_5'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	52	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAACTGGTACTATGAGAAGGA	0.517																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(154-156)Tat>Cat		LIM domain kinase 2							174.0	161.0	165.0					22																	31654314		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31654314T>C	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.154T>C	22.37:g.31654314T>C	ENSP00000332687:p.Tyr52His					LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H	p.Y52H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			3	268	+			52			LIM zinc-binding 1.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.154T>C	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799831	0.90538	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.66	5.66	0.87406	Zinc finger, LIM-type (4);	0.059305	0.64402	D	0.000001	D	0.93716	0.7992	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.992;0.995;0.992	D	0.94347	0.7576	10	0.87932	D	0	-19.7958	15.0663	0.71999	0.0:0.0:0.0:1.0	.	84;31;52	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	H	52;31;84;31;31	ENSP00000332687:Y52H;ENSP00000388422:Y31H;ENSP00000330470:Y31H;ENSP00000339916:Y31H	ENSP00000332687:Y52H	Y	+	1	0	LIMK2	29984314	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	7.698000	0.84413	2.154000	0.67381	0.379000	0.24179	TAT		0.517	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		11	400	0	0	0	1	0	11	400				
PABPC1L	80336	broad.mit.edu	37	20	43561803	43561803	+	Missense_Mutation	SNP	C	C	T	rs201624445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43561803C>T	ENST00000217073.2	+	10	1421	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	PABPC1L_ENST00000372824.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	474					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GTGCCACGCACGGTGCCTCAT	0.647																																						ENST00000372824.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(82-84)aCg>aTg		poly(A) binding protein, cytoplasmic 1-like		C	MET/THR	0,3136		0,0,1568	22.0	24.0	23.0		1421	-5.1	0.0	20		23	2,7162		0,2,3580	yes	missense	PABPC1L	NM_001124756.1	81	0,2,5148	TT,TC,CC		0.0279,0.0,0.0194	benign	474/615	43561803	2,10298	1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43561803C>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1421C>T	20.37:g.43561803C>T	ENSP00000217073:p.Thr474Met					PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000217073.2_Missense_Mutation_p.T474M|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron	p.T28M			Q4VXU2	PAP1L_HUMAN			1	1601	+			474			RRM 1.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.83C>T	CCDS42878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.195|3.195	-0.164928|-0.164928	0.06502|0.06502	0.0|0.0	2.79E-4|2.79E-4	ENSG00000101104|ENSG00000101104	ENST00000372826|ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075	.|T;T;T;T;T	.|0.42513	.|2.45;2.45;0.99;0.99;0.97	5.8|5.8	-5.13|-5.13	0.02884|0.02884	.|.	.|2.038600	.|0.01959	.|N	.|0.043214	T|T	0.14485|0.14485	0.0350|0.0350	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;P	.|0.39782	.|0.053;0.688	.|B;B	.|0.30251	.|0.011;0.113	T|T	0.16630|0.16630	-1.0396|-1.0396	5|10	.|0.38643	.|T	.|0.18	.|.	5.5724|5.5724	0.17204|0.17204	0.3691:0.2486:0.0:0.3823|0.3691:0.2486:0.0:0.3823	.|.	.|474;28	.|Q4VXU2;G5E9L3	.|PAP1L_HUMAN;.	W|M	10|474;28;28;474;28;28;28	.|ENSP00000255136:T474M;ENSP00000217073:T474M;ENSP00000361911:T28M;ENSP00000361906:T28M;ENSP00000217075:T28M	.|ENSP00000217073:T474M	R|T	+|+	1|2	2|0	PABPC1L|PABPC1L	42995217|42995217	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.325000|-0.325000	0.07976|0.07976	-1.877000|-1.877000	0.01129|0.01129	-0.797000|-0.797000	0.03246|0.03246	CGG|ACG		0.647	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			4	63	0	0	0	1	0	4	63				
DNAH1	25981	broad.mit.edu	37	3	52383039	52383039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52383039G>A	ENST00000420323.2	+	13	2503	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	748	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGGCCTACGCCAAGGAGTA	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(2242-2244)Gcc>Acc		dynein, axonemal, heavy chain 1							130.0	136.0	134.0					3																	52383039		2190	4282	6472	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383039G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2242G>A	3.37:g.52383039G>A	ENSP00000401514:p.Ala748Thr						p.A748T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	13	2503	+			748			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.2242G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371925	0.61624	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.24	4.33	0.51752	.	0.133352	0.33457	N	0.004882	T	0.38719	0.1051	M	0.83012	2.62	0.43050	D	0.994657	P;D	0.53619	0.668;0.961	B;P	0.48873	0.158;0.593	T	0.39502	-0.9611	10	0.52906	T	0.07	.	10.3996	0.44222	0.0718:0.0:0.7944:0.1338	.	748;748	C9JXH6;Q9P2D7-3	.;.	T	748	ENSP00000401514:A748T	ENSP00000401514:A748T	A	+	1	0	DNAH1	52358079	1.000000	0.71417	0.995000	0.50966	0.521000	0.34408	3.970000	0.56824	2.454000	0.82982	0.655000	0.94253	GCC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		58	274	0	0	0	1	0	58	274				
MGLL	11343	broad.mit.edu	37	3	127454569	127454569	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127454569G>T	ENST00000434178.2	-	4	1129				MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398101.3_Missense_Mutation_p.L45M|MGLL_ENST00000265052.5_Intron|MGLL_ENST00000398104.1_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase						acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TGGGTTTCCAGCACGTGCTCG	0.478																																						ENST00000398101.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(133-135)Ctg>Atg		monoglyceride lipase							205.0	199.0	201.0					3																	127454569		876	1991	2867	SO:0001627	intron_variant	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127454569G>T	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.233-13160C>A	3.37:g.127454569G>T						MGLL_ENST00000453507.2_Intron|MGLL_ENST00000434178.2_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000265052.5_Intron	p.L45M			Q99685	MGLL_HUMAN			1	631	-			0					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.133C>A	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	G	7.641	0.680861	0.14907	.	.	ENSG00000074416	ENST00000398101	.	.	.	2.69	-5.38	0.02673	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	1	B	0.30824	0.296	B	0.33042	0.157	T	0.15378	-1.0439	7	0.35671	T	0.21	.	7.0227	0.24922	0.3044:0.5087:0.1869:0.0	.	45	E7EWX8	.	M	45	.	ENSP00000381173:L45M	L	-	1	2	MGLL	128937259	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.802000	0.04545	-2.373000	0.00600	0.313000	0.20887	CTG		0.478	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		100	475	1	0	1.08058e-43	1	1.32003e-43	100	475				
OIT3	170392	broad.mit.edu	37	10	74671483	74671483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74671483G>T	ENST00000334011.5	+	5	894	c.676G>T	c.(676-678)Gga>Tga	p.G226*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	226						nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGACGTTGAAGGATGCCACAA	0.473																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(676-678)Gga>Tga		oncoprotein induced transcript 3							115.0	107.0	110.0					10																	74671483		2203	4300	6503	SO:0001587	stop_gained	170392					nuclear envelope	calcium ion binding	g.chr10:74671483G>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.676G>T	10.37:g.74671483G>T	ENSP00000333900:p.Gly226*						p.G226*	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			5	894	+	Prostate(51;0.0198)		226					A0AVP3|Q8N1M8	Nonsense_Mutation	SNP	ENST00000334011.5	37	c.676G>T	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	38	7.028173	0.98013	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	.	.	.	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.5693	20.2375	0.98362	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000333900:G226X	G	+	1	0	OIT3	74341489	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.019000	0.76412	2.790000	0.95986	0.655000	0.94253	GGA		0.473	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		113	510	1	0	2.20518e-70	1	2.8012e-70	113	510				
WDFY3	23001	broad.mit.edu	37	4	85617954	85617954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85617954C>T	ENST00000295888.4	-	57	9026	c.8619G>A	c.(8617-8619)aaG>aaA	p.K2873K	WDFY3_ENST00000322366.6_Silent_p.K2856K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2873	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTCCAAGCTTGGTGCCAT	0.368																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(8566-8568)aaG>aaA		WD repeat and FYVE domain containing 3							118.0	112.0	114.0					4																	85617954		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85617954C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8619G>A	4.37:g.85617954C>T						WDFY3_ENST00000295888.4_Silent_p.K2873K	p.K2856K			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	56	8975	-		Hepatocellular(203;0.114)	2873			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.8568G>A	CCDS3609.1																																																																																				0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		49	275	0	0	0	1	0	49	275				
MCC	4163	broad.mit.edu	37	5	112720690	112720690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112720690C>T	ENST00000408903.3	-	2	805	c.390G>A	c.(388-390)tgG>tgA	p.W130*	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGCTCGTGGGCCAGGAAGCAA	0.473																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(388-390)tgG>tgA		mutated in colorectal cancers							128.0	126.0	126.0					5																	112720690		1933	4153	6086	SO:0001587	stop_gained	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112720690C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.390G>A	5.37:g.112720690C>T	ENSP00000386227:p.Trp130*					CTD-2201G3.1_ENST00000416046.2_RNA	p.W130*	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	2	805	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	0					D3DT05|Q6ZR04	Nonsense_Mutation	SNP	ENST00000408903.3	37	c.390G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	40	8.134648	0.98670	.	.	ENSG00000171444	ENST00000408903	.	.	.	4.7	4.7	0.59300	.	0.119002	0.37906	N	0.001900	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.029	17.1098	0.86672	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	ENSP00000386227:W130X	W	-	3	0	MCC	112748589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.417000	0.66423	2.542000	0.85734	0.650000	0.86243	TGG		0.473	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		10	397	0	0	0	1	0	10	397				
BLM	641	broad.mit.edu	37	15	91328228	91328228	+	Missense_Mutation	SNP	G	G	A	rs372013507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91328228G>A	ENST00000355112.3	+	14	2858	c.2740G>A	c.(2740-2742)Gct>Act	p.A914T	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.A914T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	914	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATGGGCTCGCTGCTCTTGC	0.473			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2740-2742)Gct>Act	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like		G	THR/ALA	0,4396		0,0,2198	102.0	92.0	96.0		2740	4.0	0.6	15		96	2,8594	2.2+/-6.3	0,2,4296	no	missense	BLM	NM_000057.2	58	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	benign	914/1418	91328228	2,12990	2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91328228G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2740G>A	15.37:g.91328228G>A	ENSP00000347232:p.Ala914Thr					BLM_ENST00000560509.1_Missense_Mutation_p.A914T|BLM_ENST00000560136.1_3'UTR	p.A914T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		14	2858	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		914			Helicase C-terminal.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2740G>A	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991236	0.18966	0.0	2.33E-4	ENSG00000197299	ENST00000355112;ENST00000543977	T	0.74947	-0.89	5.84	3.95	0.45737	Helicase, C-terminal (3);	0.299378	0.36665	N	0.002465	T	0.59595	0.2205	N	0.17474	0.49	0.36005	D	0.837663	B;B;B	0.24721	0.015;0.11;0.032	B;B;B	0.29942	0.034;0.109;0.034	T	0.60026	-0.7343	10	0.34782	T	0.22	-14.9564	11.2575	0.49063	0.0:0.138:0.7184:0.1436	.	914;539;914	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	T	914;101	ENSP00000347232:A914T	ENSP00000347232:A914T	A	+	1	0	BLM	89129232	0.252000	0.23972	0.647000	0.29507	0.050000	0.14768	1.471000	0.35365	0.801000	0.34066	-0.152000	0.13540	GCT		0.473	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			72	301	0	0	0	1	0	72	301				
TYMS	7298	broad.mit.edu	37	18	672975	672975	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:672975T>G	ENST00000323274.10	+	7	1059	c.920T>G	c.(919-921)aTt>aGt	p.I307S	TYMS_ENST00000323250.5_Missense_Mutation_p.I224S|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000583973.1_5'Flank|TYMS_ENST00000323224.7_Missense_Mutation_p.I273S	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	307					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	CATCCAACTATTAAAATGGAA	0.418																																						ENST00000323274.10																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(919-921)aTt>aGt		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						94.0	98.0	96.0					18																	672975		2203	4300	6503	SO:0001583	missense	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:672975T>G	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.920T>G	18.37:g.672975T>G	ENSP00000315644:p.Ile307Ser					TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I273S|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.I224S|ENOSF1_ENST00000383578.3_3'UTR	p.I307S	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			7	1059	+			307					Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	c.920T>G	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986971	0.74589	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.044615	0.85682	D	0.000000	D	0.91402	0.7287	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.995;0.979;0.994	D	0.95074	0.8207	9	0.87932	D	0	-14.2036	16.3101	0.82865	0.0:0.0:0.0:1.0	.	224;273;307	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	S	307;273;224	.	ENSP00000314727:I273S	I	+	2	0	TYMS	662975	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.758000	0.85224	2.247000	0.74100	0.528000	0.53228	ATT		0.418	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		110	592	0	0	0	1	0	110	592				
CUL7	9820	broad.mit.edu	37	6	43015930	43015930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43015930C>T	ENST00000265348.3	-	9	2210	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.D793N			Q14999	CUL7_HUMAN	cullin 7	709					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATGCAGGCATCCACGGCCTCG	0.642																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(2377-2379)Gat>Aat		cullin 7							43.0	43.0	43.0					6																	43015930		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43015930C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2125G>A	6.37:g.43015930C>T	ENSP00000265348:p.Asp709Asn					CUL7_ENST00000265348.3_Missense_Mutation_p.D709N	p.D793N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		9	2463	-			709					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.2377G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665082	0.67700	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65549	-0.16;-0.16	4.19	2.13	0.27403	Armadillo-like helical (1);	0.282093	0.38605	N	0.001636	T	0.33059	0.0850	L	0.36672	1.1	0.80722	D	1	B;B	0.31548	0.328;0.311	B;B	0.34242	0.178;0.15	T	0.21381	-1.0247	10	0.41790	T	0.15	-21.882	7.6878	0.28550	0.1593:0.7418:0.0:0.0989	.	793;709	F5H0L1;Q14999	.;CUL7_HUMAN	N	709;793	ENSP00000265348:D709N;ENSP00000438788:D793N	ENSP00000265348:D709N	D	-	1	0	CUL7	43123908	1.000000	0.71417	0.950000	0.38849	0.925000	0.55904	3.089000	0.50183	1.044000	0.40200	0.655000	0.94253	GAT		0.642	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		51	211	0	0	0	1	0	51	211				
TANC2	26115	broad.mit.edu	37	17	61473130	61473130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61473130G>T	ENST00000424789.2	+	16	2860	c.2856G>T	c.(2854-2856)caG>caT	p.Q952H	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	952					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGAACGGGCAGTGTGCTTTGG	0.502																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(2854-2856)caG>caT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							104.0	108.0	107.0					17																	61473130		2119	4242	6361	SO:0001583	missense	26115						binding	g.chr17:61473130G>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2856G>T	17.37:g.61473130G>T	ENSP00000387593:p.Gln952His					AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H	p.Q952H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			16	2860	+			952					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.2856G>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502657	0.64298	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.15603	2.41;2.41	5.78	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.31526	0.94	0.52099	D	0.999949	D;D	0.89917	0.998;1.0	D;D	0.83275	0.964;0.996	T	0.03008	-1.1083	10	0.44086	T	0.13	.	15.0437	0.71811	0.0683:0.0:0.9317:0.0	.	952;952	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	952	ENSP00000374171:Q952H;ENSP00000387593:Q952H	ENSP00000374171:Q952H	Q	+	3	2	TANC2	58826862	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.902000	0.63266	1.447000	0.47661	-0.137000	0.14449	CAG		0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			10	100	1	0	0.00010058	1	0.000102273	10	100				
CDH17	1015	broad.mit.edu	37	8	95182635	95182635	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95182635A>G	ENST00000027335.3	-	9	1180	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	352	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCAGTCGTTCATTCTCCTGGA	0.443																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1054-1056)aaT>aaC		cadherin 17, LI cadherin (liver-intestine)							153.0	140.0	145.0					8																	95182635		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95182635A>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1056T>C	8.37:g.95182635A>G						CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	p.N352N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		9	1180	-	Breast(36;4.65e-06)		352			Cadherin 4.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.1056T>C	CCDS6260.1																																																																																				0.443	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		125	534	0	0	0	1	0	125	534				
PIK3R6	146850	broad.mit.edu	37	17	8725208	8725208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8725208G>A	ENST00000311434.9	-	18	2071	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	612					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CAGCCCAGTGGCCCGCAGGAA	0.587																																						ENST00000311434.9																			0											c.(1831-1833)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 6							35.0	36.0	36.0					17																	8725208		1989	4168	6157	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8725208G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1832C>T	17.37:g.8725208G>A	ENSP00000475670:p.Ala611Val					PIK3R6_ENST00000434064.2_5'UTR	p.A611V	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			18	2071	-			612					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1832C>T																																																																																					0.587	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		10	34	0	0	0	1	0	10	34				
GPR112	139378	broad.mit.edu	37	X	135429074	135429074	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429074C>T	ENST00000394143.1	+	6	3500	c.3209C>T	c.(3208-3210)aCt>aTt	p.T1070I	GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I|GPR112_ENST00000412101.1_Missense_Mutation_p.T865I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1070					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T1070N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGATCAGACTGCTTCCACA	0.468																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.T1070N(1)	endometrium(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3208-3210)aCt>aTt		G protein-coupled receptor 112							270.0	249.0	256.0					X																	135429074		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429074C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3209C>T	X.37:g.135429074C>T	ENSP00000377699:p.Thr1070Ile					GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000412101.1_Missense_Mutation_p.T865I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I	p.T1070I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3500	+	Acute lymphoblastic leukemia(192;0.000127)		1070					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3209C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.313932	0.40996	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39056	1.14;1.14;1.1;1.21;1.1	1.87	0.972	0.19704	.	.	.	.	.	T	0.47414	0.1444	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.991;0.991;0.981	T	0.27739	-1.0065	9	0.87932	D	0	.	5.7438	0.18108	0.0:0.6663:0.3337:0.0	.	1007;865;1070	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	1070;1070;865;1007;865	ENSP00000377699:T1070I;ENSP00000359686:T1070I;ENSP00000416526:T865I;ENSP00000287534:T1007I;ENSP00000377697:T865I	ENSP00000287534:T1007I	T	+	2	0	GPR112	135256740	0.026000	0.19158	0.001000	0.08648	0.426000	0.31534	0.101000	0.15251	0.241000	0.21283	0.436000	0.28706	ACT		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			298	1062	0	0	0	1	0	298	1062				
ENTPD8	377841	broad.mit.edu	37	9	140331021	140331021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140331021G>A	ENST00000472938.1	-	5	754	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ENTPD8_ENST00000344119.2_Silent_p.C246C|ENTPD8_ENST00000371506.2_Silent_p.C246C			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	246					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCCGTCCAAAGCACAGGTAGC	0.632																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(736-738)tgC>tgT		ectonucleoside triphosphate diphosphohydrolase 8							38.0	35.0	36.0					9																	140331021		2198	4297	6495	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140331021G>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.738C>T	9.37:g.140331021G>A						ENTPD8_ENST00000472938.1_Silent_p.C246C|ENTPD8_ENST00000344119.2_Silent_p.C246C	p.C246C	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	6	921	-	all_cancers(76;0.0926)		246					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.738C>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644662	0.29246	.	.	ENSG00000188833	ENST00000493135	T	0.48201	0.82	4.36	4.36	0.52297	.	.	.	.	.	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64854	-0.6309	6	0.52906	T	0.07	-2.6203	15.6194	0.76793	0.0:0.0:1.0:0.0	.	.	.	.	F	221	ENSP00000420099:L221F	ENSP00000420099:L221F	L	-	1	0	ENTPD8	139450842	1.000000	0.71417	0.982000	0.44146	0.455000	0.32408	3.237000	0.51344	2.257000	0.74773	0.462000	0.41574	CTT		0.632	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		13	71	0	0	0	1	0	13	71				
UNC5CL	222643	broad.mit.edu	37	6	41002657	41002657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41002657C>T	ENST00000373164.1	-	1	217	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	UNC5CL_ENST00000244565.3_Missense_Mutation_p.V53M|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	53					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGGGACACTGGTTCCTCT	0.587																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(157-159)Gtg>Atg		unc-5 homolog C (C. elegans)-like							116.0	105.0	109.0					6																	41002657		2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41002657C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.157G>A	6.37:g.41002657C>T	ENSP00000362258:p.Val53Met					UNC5CL_ENST00000373164.1_Missense_Mutation_p.V53M	p.V53M	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			2	245	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		53					Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.157G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199508	0.22121	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.20598	2.06;2.06	4.49	4.49	0.54785	.	0.836023	0.10201	N	0.703402	T	0.07279	0.0184	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.31751	0.135	T	0.12656	-1.0539	10	0.54805	T	0.06	-3.386	12.5412	0.56172	0.0:1.0:0.0:0.0	.	53	Q8IV45	UN5CL_HUMAN	M	53	ENSP00000244565:V53M;ENSP00000362258:V53M	ENSP00000244565:V53M	V	-	1	0	UNC5CL	41110635	0.009000	0.17119	0.849000	0.33467	0.012000	0.07955	2.263000	0.43293	2.342000	0.79632	0.563000	0.77884	GTG		0.587	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		97	435	0	0	0	1	0	97	435				
JAZF1	221895	broad.mit.edu	37	7	28220184	28220184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:28220184C>T	ENST00000283928.5	-	1	178	c.13G>A	c.(13-15)Gcc>Acc	p.A5T	JAZF1-AS1_ENST00000455963.1_RNA|JAZF1-AS1_ENST00000436758.1_RNA	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	5					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GAGGCGGCGGCGATGCCTGTC	0.677			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(13-15)Gcc>Acc		JAZF zinc finger 1							37.0	36.0	36.0					7																	28220184		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:28220184C>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.13G>A	7.37:g.28220184C>T	ENSP00000283928:p.Ala5Thr					JAZF1-AS1_ENST00000436758.1_RNA|JAZF1-AS1_ENST00000455963.1_RNA	p.A5T	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			1	178	-			5					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.13G>A	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421611	0.83559	.	.	ENSG00000153814	ENST00000283928	T	0.78246	-1.16	2.46	1.54	0.23209	.	0.182425	0.34133	U	0.004221	T	0.61813	0.2377	L	0.51422	1.61	0.46078	D	0.998858	P	0.45011	0.848	B	0.26517	0.07	T	0.58668	-0.7596	10	0.41790	T	0.15	.	9.3941	0.38392	0.0:0.8851:0.0:0.1149	.	5	Q86VZ6	JAZF1_HUMAN	T	5	ENSP00000283928:A5T	ENSP00000283928:A5T	A	-	1	0	JAZF1	28186709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.973000	0.56845	0.326000	0.23384	0.460000	0.39030	GCC		0.677	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		5	186	0	0	0	1	0	5	186				
TLR9	54106	broad.mit.edu	37	3	52258212	52258212	+	Silent	SNP	G	G	A	rs151147353	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52258212G>A	ENST00000360658.2	-	2	753	c.120C>T	c.(118-120)caC>caT	p.H40H	TLR9_ENST00000494383.1_Missense_Mutation_p.R194W|TLR9_ENST00000597542.1_Silent_p.H64H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	40					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TCACCAGGCCGTGGGGCTGGA	0.627													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20588	0.0		0.0	False		,,,				2504	0.0					ENST00000494383.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(580-582)Cgg>Tgg		toll-like receptor 9	Chloroquine(DB00608)	A		4,4402	8.1+/-20.4	0,4,2199	84.0	73.0	77.0		120	-10.4	0.0	3	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	TLR9	NM_017442.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		40/1033	52258212	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52258212G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.120C>T	3.37:g.52258212G>A						TLR9_ENST00000597542.1_Silent_p.H64H|TLR9_ENST00000360658.2_Silent_p.H40H	p.R194W			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	579	-			0					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.580C>T	CCDS2848.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.012	-1.652272	0.00785	9.08E-4	0.0	ENSG00000173366	ENST00000494383	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16958	-1.0385	4	.	.	.	.	3.9338	0.09298	0.235:0.1249:0.4535:0.1866	.	.	.	.	W	194	.	.	R	-	1	2	RP11-330H6.5	52233252	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-6.209000	0.00076	-5.697000	0.00010	-4.451000	0.00005	CGG		0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			32	250	0	0	0	1	0	32	250				
ADAM12	8038	broad.mit.edu	37	10	127786984	127786984	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127786984C>A	ENST00000368679.4	-	10	1315		c.e10+1		ADAM12_ENST00000368676.4_Splice_Site	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGGCTTACCATGACAATT	0.473																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e10+1		ADAM metallopeptidase domain 12							164.0	152.0	156.0					10																	127786984		2203	4300	6503	SO:0001630	splice_region_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127786984C>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1005+1G>T	10.37:g.127786984C>A						ADAM12_ENST00000368676.4_Splice_Site		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	10	1315	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)						O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Splice_Site	SNP	ENST00000368679.4	37		CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347383	0.82022	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM12	127776974	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.502000	0.81614	2.655000	0.90218	0.655000	0.94253	.		0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		Intron	164	646	1	0	2.95651e-86	1	3.79019e-86	164	646				
COL5A2	1290	broad.mit.edu	37	2	189975161	189975161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189975161C>A	ENST00000374866.3	-	2	386	c.112G>T	c.(112-114)Gaa>Taa	p.E38*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	38					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGCTATTTCTTCACCATAT	0.383																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(112-114)Gaa>Taa		collagen, type V, alpha 2							60.0	62.0	61.0					2																	189975161		2203	4300	6503	SO:0001587	stop_gained	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189975161C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.112G>T	2.37:g.189975161C>A	ENSP00000364000:p.Glu38*						p.E38*	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		2	386	-			38					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	c.112G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	38	7.219777	0.98143	.	.	ENSG00000204262	ENST00000374866	.	.	.	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6133	0.95618	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	.	E	-	1	0	COL5A2	189683406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.702000	0.92279	0.655000	0.94253	GAA		0.383	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		43	236	1	0	4.16155e-14	1	4.51065e-14	43	236				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473122	22473122	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22473122C>T	ENST00000557788.2	-	0	148							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGTTACTACTGCTGATGGA	0.622																																						ENST00000557788.2																			0																																																			0							g.chr15:22473122C>T	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473122C>T														0	148	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.622	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			91	669	0	0	0	1	0	91	669				
RUNX2	860	broad.mit.edu	37	6	45514903	45514903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45514903C>T	ENST00000371438.1	+	8	1785	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	476	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGCACCACCACCTCGAATGGC	0.507																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1426-1428)aCc>aTc		runt-related transcription factor 2							94.0	87.0	89.0					6																	45514903		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514903C>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1427C>T	6.37:g.45514903C>T	ENSP00000360493:p.Thr476Ile					RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I	p.T476I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			8	1785	+			476			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.1427C>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006934	0.74932	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.77	5.77	0.91146	Runx inhibition (1);	0.043176	0.85682	D	0.000000	T	0.26340	0.0643	N	0.08118	0	0.53688	D	0.999974	P;P;P	0.49447	0.696;0.924;0.692	B;P;B	0.58266	0.373;0.836;0.275	T	0.34079	-0.9843	10	0.72032	D	0.01	-9.0178	20.3627	0.98863	0.0:1.0:0.0:0.0	.	522;476;462	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	I	476;544;522;476;454;462;440	ENSP00000420707:T476I;ENSP00000319087:T544I;ENSP00000446290:T522I;ENSP00000360493:T476I;ENSP00000360491:T454I;ENSP00000352514:T462I;ENSP00000360486:T440I	ENSP00000319087:T544I	T	+	2	0	RUNX2	45622881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	ACC		0.507	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		61	346	0	0	0	1	0	61	346				
CRABP2	1382	broad.mit.edu	37	1	156670843	156670843	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156670843C>T	ENST00000368222.3	-	2	226	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CRABP2_ENST00000368221.1_Splice_Site_p.G24G	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	24					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	TCACATTCACCCCTGTGGGGA	0.542																																						ENST00000368222.3																			0				endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6						c.e2-1		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)						74.0	65.0	68.0					1																	156670843		2203	4300	6503	SO:0001630	splice_region_variant	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156670843C>T	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.71-1G>A	1.37:g.156670843C>T						CRABP2_ENST00000368221.1_Splice_Site_p.G24_splice	p.G24_splice	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN			2	226	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		24					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Splice_Site	SNP	ENST00000368222.3	37	c.70_splice	CCDS1152.1																																																																																				0.542	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878	Silent	22	260	0	0	0	1	0	22	260				
PRRC1	133619	broad.mit.edu	37	5	126887437	126887437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887437G>A	ENST00000296666.8	+	9	1355	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*|PRRC1_ENST00000513427.1_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	389						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		ATCTGAGGTGGTCAGGCCTTT	0.428																																						ENST00000296666.8																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1165-1167)tgG>tgA		proline-rich coiled-coil 1							78.0	81.0	80.0					5																	126887437		2203	4300	6503	SO:0001587	stop_gained	133619					Golgi apparatus		g.chr5:126887437G>A	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1167G>A	5.37:g.126887437G>A	ENSP00000296666:p.Trp389*					PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*	p.W389*	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	9	1355	+		Prostate(80;0.165)	389					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Nonsense_Mutation	SNP	ENST00000296666.8	37	c.1167G>A	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	37	6.613731	0.97705	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1058	17.8626	0.88786	0.0:0.0:1.0:0.0	.	.	.	.	X	389	.	ENSP00000296666:W389X	W	+	3	0	PRRC1	126915336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.687000	0.91594	0.557000	0.71058	TGG		0.428	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		55	242	0	0	0	1	0	55	242				
BRD4	23476	broad.mit.edu	37	19	15364970	15364970	+	Silent	SNP	G	G	A	rs200329089		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGC	0.542			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2149-2151)tcC>tcT		bromodomain containing 4							76.0	66.0	70.0					19																	15364970		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15364970G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2151C>T	19.37:g.15364970G>A						BRD4_ENST00000360016.5_Silent_p.S717S|BRD4_ENST00000371835.4_Silent_p.S717S	p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		11	2372	-			717			Ser-rich.		O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.2151C>T	CCDS12328.1																																																																																				0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		19	199	0	0	0	1	0	19	199				
ZNF420	147923	broad.mit.edu	37	19	37618211	37618211	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618211T>G	ENST00000337995.3	+	5	533	c.318T>G	c.(316-318)taT>taG	p.Y106*	ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAGGAATATTTCAGGCAAG	0.373																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(316-318)taT>taG		zinc finger protein 420							106.0	104.0	105.0					19																	37618211		2203	4300	6503	SO:0001587	stop_gained	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618211T>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.318T>G	19.37:g.37618211T>G	ENSP00000338770:p.Tyr106*					ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*|ZNF585A_ENST00000588723.1_Intron	p.Y106*	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	533	+			106					B2RDY6|Q96ML5	Nonsense_Mutation	SNP	ENST00000337995.3	37	c.318T>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001244	0.54254	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0673	0.36471	0.0:0.0:0.0:1.0	.	.	.	.	X	106	.	ENSP00000306102:Y106X	Y	+	3	2	ZNF420	42310051	0.010000	0.17322	0.138000	0.22173	0.623000	0.37688	1.531000	0.36018	1.698000	0.51180	0.459000	0.35465	TAT		0.373	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		62	287	0	0	0	1	0	62	287				
USP17L2	377630	broad.mit.edu	37	8	11994753	11994753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994753G>A	ENST00000333796.3	-	1	1833	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	506	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGCAGAGAAGCGAGGGTGCC	0.542																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1516-1518)gCt>gTt		ubiquitin specific peptidase 17-like family member 2							69.0	79.0	76.0					8																	11994753		1436	2999	4435	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11994753G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1517C>T	8.37:g.11994753G>A	ENSP00000333329:p.Ala506Val					FAM66D_ENST00000434078.2_RNA	p.A506V	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1833	-			506						Missense_Mutation	SNP	ENST00000333796.3	37	c.1517C>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	1.052	-0.675426	0.03378	.	.	ENSG00000223443	ENST00000333796	T	0.12147	2.71	0.418	0.418	0.16429	.	3.924260	0.01239	U	0.008577	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.28332	-1.0047	9	0.40728	T	0.16	.	.	.	.	.	506	Q6R6M4	U17L2_HUMAN	V	506	ENSP00000333329:A506V	ENSP00000333329:A506V	A	-	2	0	USP17L2	12032162	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	0.527000	0.22987	0.476000	0.27440	0.479000	0.44913	GCT		0.542	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		65	452	0	0	0	1	0	65	452				
SETX	23064	broad.mit.edu	37	9	135139642	135139642	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135139642T>G	ENST00000224140.5	-	26	8200	c.8018A>C	c.(8017-8019)aAa>aCa	p.K2673T	SETX_ENST00000372169.2_Missense_Mutation_p.K2702T|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.K2640T	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2673	Necessary for nuclear localization.				cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAGCTTTCTTTTCTTGGAACT	0.512																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(8104-8106)aAa>aCa		senataxin							119.0	126.0	123.0					9																	135139642		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135139642T>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.8018A>C	9.37:g.135139642T>G	ENSP00000224140:p.Lys2673Thr					SETX_ENST00000224140.5_Missense_Mutation_p.K2673T|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.K2640T	p.K2702T			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	27	8287	-		Myeloproliferative disorder(178;0.204)	2673					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.8105A>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846347	0.71603	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92348	-2.33;-3.02;-2.52;-2.12	5.57	-2.46	0.06461	.	3.800430	0.00819	N	0.001576	D	0.91061	0.7187	L	0.32530	0.975	0.18873	N	0.999981	P;P;P	0.41848	0.763;0.651;0.763	P;B;P	0.47346	0.544;0.15;0.544	T	0.82462	-0.0445	10	0.66056	D	0.02	.	13.8209	0.63320	0.0:0.7622:0.0:0.2378	.	2640;2673;2702	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	T	2673;944;2702;2640	ENSP00000224140:K2673T;ENSP00000409143:K944T;ENSP00000361242:K2702T;ENSP00000376913:K2640T	ENSP00000224140:K2673T	K	-	2	0	SETX	134129463	0.018000	0.18449	0.019000	0.16419	0.254000	0.26022	-0.230000	0.09083	-0.377000	0.07930	0.402000	0.26972	AAA		0.512	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		240	884	0	0	0	1	0	240	884				
ZEB1	6935	broad.mit.edu	37	10	31815766	31815766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31815766C>T	ENST00000320985.10	+	9	3059	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y	ZEB1_ENST00000542815.3_Silent_p.Y916Y|ZEB1_ENST00000361642.5_Silent_p.Y984Y|ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000446923.2_Silent_p.Y967Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	983					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCATCGCTACTCCTACTGTA	0.498																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2899-2901)taC>taT		zinc finger E-box binding homeobox 1							102.0	85.0	91.0					10																	31815766		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815766C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2949C>T	10.37:g.31815766C>T						ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000542815.3_Silent_p.Y916Y|ZEB1_ENST00000320985.10_Silent_p.Y983Y|ZEB1_ENST00000361642.5_Silent_p.Y984Y	p.Y967Y	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3292	+		Prostate(175;0.0156)	983					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.2901C>T	CCDS7169.1																																																																																				0.498	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		62	220	0	0	0	1	0	62	220				
KCNH2	3757	broad.mit.edu	37	7	150648842	150648842	+	Missense_Mutation	SNP	C	C	T	rs376021230		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648842C>T	ENST00000262186.5	-	7	2040	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	KCNH2_ENST00000392968.2_Missense_Mutation_p.A451T|KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	547					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.A547T(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGCACGGCCGCGCCGTACTCT	0.647																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			1	Substitution - Missense(1)	p.A547T(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1351-1353)Gcg>Acg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	60.0	51.0	54.0		1639,619,1639,619	4.1	1.0	7		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KCNH2	NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2	58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	547/1160,207/549,547/889,207/820	150648842	1,13005	2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648842C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1639G>A	7.37:g.150648842C>T	ENSP00000262186:p.Ala547Thr					KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T|KCNH2_ENST00000262186.5_Missense_Mutation_p.A547T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T	p.A451T			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	2471	-	all_neural(206;0.219)		547		P -> L (in LQT2).			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1351G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678089	0.68042	0.0	1.16E-4	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98330	0.9446	L	0.55017	1.72	0.54753	D	0.999987	D;D;P;D;P	0.89917	1.0;1.0;0.665;0.976;0.607	D;D;B;P;B	0.85130	0.997;0.995;0.255;0.782;0.23	D	0.99032	1.0821	10	0.87932	D	0	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	451;547;207;547;207	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	T	207;451;547;207;547	ENSP00000328531:A207T;ENSP00000376695:A451T;ENSP00000262186:A547T;ENSP00000387657:A547T	ENSP00000262186:A547T	A	-	1	0	KCNH2	150279775	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GCG		0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		45	209	0	0	0	1	0	45	209				
ADAMTS1	9510	broad.mit.edu	37	21	28210028	28210028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28210028C>T	ENST00000284984.3	-	9	3228	c.2774G>A	c.(2773-2775)gGg>gAg	p.G925E		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	925	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTAACCCTTCCCACAGGTCTT	0.488																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2773-2775)gGg>gAg		ADAM metallopeptidase with thrombospondin type 1 motif, 1							110.0	115.0	113.0					21																	28210028		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210028C>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2774G>A	21.37:g.28210028C>T	ENSP00000284984:p.Gly925Glu						p.G925E	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	3228	-		Breast(209;0.000962)	925			TSP type-1 3.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.2774G>A	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630108	0.87660	.	.	ENSG00000154734	ENST00000284984	T	0.70516	-0.49	5.52	4.62	0.57501	.	.	.	.	.	D	0.85150	0.5631	M	0.91663	3.23	0.80722	D	1	P	0.50066	0.931	P	0.60345	0.873	D	0.86873	0.2037	9	0.52906	T	0.07	.	14.8111	0.69996	0.0:0.9302:0.0:0.0698	.	925	Q9UHI8	ATS1_HUMAN	E	925	ENSP00000284984:G925E	ENSP00000284984:G925E	G	-	2	0	ADAMTS1	27131899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.615000	0.67702	2.873000	0.98535	0.563000	0.77884	GGG		0.488	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			117	511	0	0	0	1	0	117	511				
HOXD12	3238	broad.mit.edu	37	2	176964901	176964901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964901C>T	ENST00000406506.2	+	1	444	c.372C>T	c.(370-372)agC>agT	p.S124S	HOXD12_ENST00000404162.2_Silent_p.S124S			P35452	HXD12_HUMAN	homeobox D12	124					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGAGTCTAGCCTGGCTCCTG	0.677																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(370-372)agC>agT		homeobox D12							17.0	20.0	19.0					2																	176964901		1924	4139	6063	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964901C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.372C>T	2.37:g.176964901C>T						HOXD12_ENST00000404162.2_Silent_p.S124S	p.S124S			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	444	+			124					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.372C>T	CCDS46456.1																																																																																				0.677	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		34	127	0	0	0	1	0	34	127				
EPHA8	2046	broad.mit.edu	37	1	22913039	22913039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22913039G>A	ENST00000166244.3	+	4	962	c.890G>A	c.(889-891)aGc>aAc	p.S297N	EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N|EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	297	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTCCCCACAGCCACTCCGCA	0.672																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(889-891)aGc>aAc		EPH receptor A8							41.0	40.0	40.0					1																	22913039		2202	4300	6502	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22913039G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.890G>A	1.37:g.22913039G>A	ENSP00000166244:p.Ser297Asn					EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N|EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N	p.S297N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	962	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	297			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.890G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939549	0.92526	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97430	1.59;-4.38;-4.38	4.35	4.35	0.52113	.	0.053256	0.85682	D	0.000000	D	0.98372	0.9459	M	0.92268	3.29	0.52501	D	0.999958	P;D	0.55800	0.671;0.973	B;P	0.56612	0.107;0.802	D	0.99544	1.0964	10	0.87932	D	0	.	15.6037	0.76646	0.0:0.0:1.0:0.0	.	297;297	P29322;P29322-2	EPHA8_HUMAN;.	N	297	ENSP00000166244:S297N;ENSP00000363775:S297N;ENSP00000440274:S297N	ENSP00000166244:S297N	S	+	2	0	EPHA8	22785626	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.587000	0.98229	2.265000	0.75225	0.455000	0.32223	AGC		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		88	243	0	0	0	1	0	88	243				
HDX	139324	broad.mit.edu	37	X	83724135	83724135	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724135T>G	ENST00000297977.5	-	3	707	c.596A>C	c.(595-597)aAc>aCc	p.N199T	HDX_ENST00000506585.2_Missense_Mutation_p.N141T|HDX_ENST00000373177.2_Missense_Mutation_p.N199T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	199						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACTGAAGAGTTTCCATAGTT	0.388																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(595-597)aAc>aCc		highly divergent homeobox							138.0	123.0	128.0					X																	83724135		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724135T>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.596A>C	X.37:g.83724135T>G	ENSP00000297977:p.Asn199Thr					HDX_ENST00000506585.2_Missense_Mutation_p.N141T|HDX_ENST00000373177.2_Missense_Mutation_p.N199T	p.N199T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	707	-			199					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.596A>C	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.330907	0.01298	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.41400	1.55;1.6;1.55;1.0	4.9	2.82	0.32997	.	0.459886	0.24970	N	0.034148	T	0.17831	0.0428	N	0.14661	0.345	0.20873	N	0.999837	B	0.17038	0.02	B	0.14023	0.01	T	0.30563	-0.9974	10	0.05351	T	0.99	-25.6574	4.4455	0.11595	0.1664:0.6086:0.0:0.225	.	199	Q7Z353	HDX_HUMAN	T	199;141;199;141	ENSP00000297977:N199T;ENSP00000362272:N141T;ENSP00000423670:N199T;ENSP00000387790:N141T	ENSP00000297977:N199T	N	-	2	0	HDX	83610791	0.997000	0.39634	0.977000	0.42913	0.983000	0.72400	0.835000	0.27531	0.380000	0.24823	-0.502000	0.04539	AAC		0.388	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		32	607	0	0	0	1	0	32	607				
CFAP46	54777	broad.mit.edu	37	10	134623955	134623955	+	Missense_Mutation	SNP	G	G	A	rs143790683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134623955G>A	ENST00000368586.5	-	57	7722	c.7622C>T	c.(7621-7623)gCg>gTg	p.A2541V	TTC40_ENST00000263170.5_Missense_Mutation_p.A702V	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGAAGGAGACGCACTGTTTCT	0.622																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(7621-7623)gCg>gTg		tetratricopeptide repeat domain 40		G	VAL/ALA	0,4406		0,0,2203	92.0	78.0	83.0		2558	2.1	0.0	10	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	C10orf92	NM_001200049.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	853/1028	134623955	1,13005	2203	4300	6503	SO:0001583	missense	54777							g.chr10:134623955G>A																												ENST00000368586.5:c.7622C>T	10.37:g.134623955G>A	ENSP00000357575:p.Ala2541Val					TTC40_ENST00000263170.5_Missense_Mutation_p.A702V	p.A2541V	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			57	7722	-			702						Missense_Mutation	SNP	ENST00000368586.5	37	c.7622C>T	CCDS58101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.98|10.98	1.504213|1.504213	0.26949|0.26949	0.0|0.0	1.16E-4|1.16E-4	ENSG00000171811|ENSG00000171811	ENST00000368586;ENST00000263170|ENST00000435957	T;T|.	0.13778|.	2.83;2.56|.	2.98|2.98	2.07|2.07	0.26955|0.26955	.|.	2.093080|.	0.02481|.	N|.	0.088465|.	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999993|0.999993	P|.	0.36660|.	0.564|.	B|.	0.25614|.	0.062|.	T|T	0.31696|0.31696	-0.9934|-0.9934	10|6	0.17832|0.87932	T|D	0.49|0	.|.	7.6152|7.6152	0.28154|0.28154	0.1276:0.0:0.8723:0.0|0.1276:0.0:0.8723:0.0	.|.	702|.	Q8IYW2|.	CJ092_HUMAN|.	V|C	2541;702|170	ENSP00000357575:A2541V;ENSP00000263170:A702V|.	ENSP00000263170:A702V|ENSP00000396731:R170C	A|R	-|-	2|1	0|0	C10orf93|C10orf93	134473945|134473945	0.198000|0.198000	0.23374|0.23374	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	4.651000|4.651000	0.61447|0.61447	0.843000|0.843000	0.35070|0.35070	0.591000|0.591000	0.81541|0.81541	GCG|CGT		0.622	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			22	493	0	0	0	1	0	22	493				
LRRC55	219527	broad.mit.edu	37	11	56949909	56949909	+	Missense_Mutation	SNP	G	G	A	rs368858600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56949909G>A	ENST00000497933.1	+	1	689	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	151					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGCCCATGGGCTAGTCCAC	0.612																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(541-543)gGg>gAg		leucine rich repeat containing 55		G	GLU/GLY	0,4402		0,0,2201	43.0	42.0	42.0		542	5.0	0.8	11		42	1,8591	1.2+/-3.3	0,1,4295	no	missense	LRRC55	NM_001005210.2	98	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	181/342	56949909	1,12993	2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949909G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.542G>A	11.37:g.56949909G>A	ENSP00000419542:p.Gly181Glu						p.G181E	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	689	+			151					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.542G>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350526	0.24512	0.0	1.16E-4	ENSG00000183908	ENST00000497933	T	0.56776	0.44	5.91	4.99	0.66335	.	0.339739	0.25786	N	0.028302	T	0.37376	0.1001	N	0.21373	0.66	0.21290	N	0.999738	B	0.06786	0.001	B	0.18263	0.021	T	0.21965	-1.0230	10	0.34782	T	0.22	.	9.813	0.40835	0.0767:0.1557:0.7677:0.0	.	151	Q6ZSA7	LRC55_HUMAN	E	181	ENSP00000419542:G181E	ENSP00000419542:G181E	G	+	2	0	LRRC55	56706485	0.353000	0.24904	0.788000	0.31933	0.979000	0.70002	2.139000	0.42149	1.467000	0.48044	0.655000	0.94253	GGG		0.612	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		58	214	0	0	0	1	0	58	214				
YY1AP1	55249	broad.mit.edu	37	1	155630344	155630344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155630344G>A	ENST00000295566.4	-	11	1518	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S	YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P571S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	499					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGCTGTATTGGGTGAGGAATC	0.557																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(1711-1713)Cca>Tca		YY1 associated protein 1							43.0	51.0	48.0					1																	155630344		2203	4297	6500	SO:0001583	missense	55249							g.chr1:155630344G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1495C>T	1.37:g.155630344G>A	ENSP00000295566:p.Pro499Ser					YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P499S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S	p.P571S	NM_001198904.1	NP_001185833.1					10	1819	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.1711C>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	1.729	-0.494657	0.04322	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	2.53	-1.25	0.09405	.	1.325680	0.04977	N	0.465021	T	0.08088	0.0202	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B	0.34015	0.024;0.01;0.435;0.026;0.07	B;B;B;B;B	0.32465	0.032;0.022;0.146;0.046;0.023	T	0.24512	-1.0158	10	0.66056	D	0.02	.	4.4857	0.11788	0.2871:0.0:0.5222:0.1907	.	591;433;499;453;571	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	S	442;453;422;453;442;571;499;453;422;433;591;299	ENSP00000352134:P442S;ENSP00000347686:P453S;ENSP00000311138:P422S;ENSP00000316079:P453S;ENSP00000355298:P442S;ENSP00000357324:P571S;ENSP00000295566:P499S;ENSP00000357314:P453S;ENSP00000385791:P422S;ENSP00000385390:P433S;ENSP00000357323:P591S;ENSP00000437926:P299S	ENSP00000295566:P499S	P	-	1	0	YY1AP1	153896968	0.000000	0.05858	0.077000	0.20336	0.031000	0.12232	-0.134000	0.10436	-0.477000	0.06832	0.306000	0.20318	CCA		0.557	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		95	413	0	0	0	1	0	95	413				
CAMK1D	57118	broad.mit.edu	37	10	12708741	12708741	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12708741G>T	ENST00000378847.3	+	3	568	c.231G>T	c.(229-231)aaG>aaT	p.K77N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N|CAMK1D_ENST00000487696.1_3'UTR	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCAGGATTAAGCATGAAAATA	0.338																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(229-231)aaG>aaT		calcium/calmodulin-dependent protein kinase ID							132.0	126.0	128.0					10																	12708741		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12708741G>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.231G>T	10.37:g.12708741G>T	ENSP00000368124:p.Lys77Asn					CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N|CAMK1D_ENST00000487696.1_3'UTR	p.K77N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	3	568	+			77			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.231G>T	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113066	0.37339	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.38401	1.14;1.14	5.51	3.64	0.41730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.11651	0.15	0.53688	D	0.99997	D;B	0.56035	0.974;0.002	P;B	0.58210	0.835;0.011	T	0.02144	-1.1206	10	0.39692	T	0.17	-21.3343	7.0761	0.25205	0.2351:0.0:0.7649:0.0	.	77;77	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	77	ENSP00000368124:K77N;ENSP00000368122:K77N	ENSP00000368122:K77N	K	+	3	2	CAMK1D	12748747	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.100000	0.41777	2.593000	0.87608	0.655000	0.94253	AAG		0.338	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		77	357	1	0	7.427e-35	1	8.84747e-35	77	357				
TPCN2	219931	broad.mit.edu	37	11	68821505	68821505	+	Silent	SNP	C	C	T	rs558916969		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68821505C>T	ENST00000294309.3	+	2	215	c.114C>T	c.(112-114)gcC>gcT	p.A38A	TPCN2_ENST00000542467.1_Silent_p.A38A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	38					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCAGGTGCCGCGGCCAGGT	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		18515	0.0		0.0	False		,,,				2504	0.001					ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(112-114)gcC>gcT		two pore segment channel 2							100.0	72.0	82.0					11																	68821505		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68821505C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.114C>T	11.37:g.68821505C>T						TPCN2_ENST00000542467.1_Silent_p.A38A	p.A38A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		2	215	+			38					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.114C>T	CCDS8189.1																																																																																				0.622	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		29	160	0	0	0	1	0	29	160				
CNTN6	27255	broad.mit.edu	37	3	1414156	1414156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1414156G>T	ENST00000446702.2	+	13	2293	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*			Q9UQ52	CNTN6_HUMAN	contactin 6	556	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATTGGAGGAGTAAGTTA	0.348																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1666-1668)Gga>Tga		contactin 6							83.0	86.0	85.0					3																	1414156		2203	4300	6503	SO:0001587	stop_gained	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1414156G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1666G>T	3.37:g.1414156G>T	ENSP00000407822:p.Gly556*					CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*	p.G556*			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	13	2293	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	556			Ig-like C2-type 6.		Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	37	c.1666G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	44	11.096650	0.99515	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.9318	0.70919	0.0706:0.0:0.9294:0.0	.	.	.	.	X	556;484;556	.	ENSP00000341882:G556X	G	+	1	0	CNTN6	1389156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.376000	0.79658	2.732000	0.93576	0.650000	0.86243	GGA		0.348	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		50	219	1	0	7.34454e-26	1	8.44522e-26	50	219				
DGKI	9162	broad.mit.edu	37	7	137308289	137308289	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137308289T>G	ENST00000288490.5	-	7	816	c.816A>C	c.(814-816)caA>caC	p.Q272H	DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H|DGKI_ENST00000424189.2_Missense_Mutation_p.Q272H|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	272					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGGAGAACTTTTGCTGGAAGC	0.443																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(814-816)caA>caC		diacylglycerol kinase, iota							172.0	166.0	168.0					7																	137308289		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137308289T>G	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.816A>C	7.37:g.137308289T>G	ENSP00000288490:p.Gln272His					DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.Q272H|DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H	p.Q272H			O75912	DGKI_HUMAN			7	1045	-			272					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.816A>C	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848968	0.71603	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.36520	1.25;1.44	5.76	-1.13	0.09775	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.49640	1.575	0.54753	D	0.999988	P	0.45078	0.85	P	0.55391	0.775	T	0.23440	-1.0188	10	0.33141	T	0.24	.	12.5935	0.56454	0.0:0.6635:0.0:0.3365	.	272	O75912	DGKI_HUMAN	H	220;272;272;272	ENSP00000288490:Q272H;ENSP00000399131:Q272H	ENSP00000288490:Q272H	Q	-	3	2	DGKI	136958829	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.934000	0.28910	-0.128000	0.11641	0.533000	0.62120	CAA		0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		107	489	0	0	0	1	0	107	489				
CNTNAP4	85445	broad.mit.edu	37	16	76483753	76483753	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76483753A>T	ENST00000476707.1	+	6	1217	c.1078A>T	c.(1078-1080)Atg>Ttg	p.M360L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.M356L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	357	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATCATTGCTATGGTGAGAGT	0.338																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1066-1068)Atg>Ttg		contactin associated protein-like 4							42.0	40.0	41.0					16																	76483753		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76483753A>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1078A>T	16.37:g.76483753A>T	ENSP00000417628:p.Met360Leu					CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M360L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Intron	p.M356L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			8	1451	+			357			Laminin G-like 1.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1066A>T		.	.	.	.	.	.	.	.	.	.	A	11.39	1.625272	0.28889	.	.	ENSG00000152910	ENST00000307431;ENST00000476707	T;T	0.77877	-1.13;-1.13	5.43	3.1	0.35709	Laminin G domain (1);	0.267039	0.26442	N	0.024349	T	0.56746	0.2006	.	.	.	0.26725	N	0.970691	B;B;B	0.16396	0.008;0.004;0.017	B;B;B	0.19391	0.012;0.017;0.025	T	0.34428	-0.9829	9	0.19590	T	0.45	.	1.6134	0.02698	0.5569:0.1547:0.1396:0.1489	.	360;332;357	E9PDN6;Q96M80;Q9C0A0	.;.;CNTP4_HUMAN	L	356;360	ENSP00000306893:M356L;ENSP00000417628:M360L	ENSP00000306893:M356L	M	+	1	0	CNTNAP4	75041254	0.032000	0.19561	0.033000	0.17914	0.088000	0.18126	1.286000	0.33273	0.447000	0.26695	-0.336000	0.08194	ATG		0.338	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		8	61	0	0	0	1	0	8	61				
GALNTL5	168391	broad.mit.edu	37	7	151668056	151668056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151668056G>T	ENST00000392800.2	+	3	528	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	92					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TACAAACCCAGAACTTCATAA	0.338																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(274-276)Gaa>Taa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							64.0	67.0	66.0					7																	151668056		2203	4297	6500	SO:0001587	stop_gained	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151668056G>T	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.274G>T	7.37:g.151668056G>T	ENSP00000376548:p.Glu92*					GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	p.E92*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	3	528	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	92					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Nonsense_Mutation	SNP	ENST00000392800.2	37	c.274G>T	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144923	0.94603	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	.	.	.	4.94	3.14	0.36123	.	1.405840	0.04436	N	0.370099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.6325	0.28247	0.1907:0.0:0.8093:0.0	.	.	.	.	X	92	.	ENSP00000376548:E92X	E	+	1	0	GALNTL5	151298989	0.757000	0.28394	0.028000	0.17463	0.023000	0.10783	1.917000	0.39996	0.788000	0.33755	-0.140000	0.14226	GAA		0.338	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		34	205	1	0	6.00712e-18	1	6.65163e-18	34	205				
SH3GL3	6457	broad.mit.edu	37	15	84237341	84237341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84237341C>T	ENST00000427482.2	+	4	554	c.248C>T	c.(247-249)aCc>aTc	p.T83I	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T91I|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	83	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Required for dimerization upon membrane association. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CAGGTGAAGACCACAGGATAC	0.468																																						ENST00000324537.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(271-273)aCc>aTc		SH3-domain GRB2-like 3							86.0	86.0	86.0					15																	84237341		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84237341C>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.248C>T	15.37:g.84237341C>T	ENSP00000391372:p.Thr83Ile					SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I|SH3GL3_ENST00000427482.2_Missense_Mutation_p.T83I	p.T91I			Q99963	SH3G3_HUMAN			7	764	+			83			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.272C>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888960	0.33348	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.86	2.82	0.32997	BAR (3);	0.420176	0.25997	N	0.026979	T	0.28928	0.0718	L	0.57536	1.79	0.38708	D	0.953143	B;B;B	0.28820	0.224;0.054;0.076	B;B;B	0.28305	0.088;0.064;0.084	T	0.18903	-1.0322	10	0.38643	T	0.18	-25.1471	11.2328	0.48923	0.1415:0.7217:0.1368:0.0	.	83;83;91	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	I	83;83;91;91	ENSP00000391372:T83I;ENSP00000439239:T83I;ENSP00000320092:T91I;ENSP00000397871:T91I	ENSP00000320092:T91I	T	+	2	0	SH3GL3	82028345	0.427000	0.25514	0.844000	0.33320	0.876000	0.50452	0.547000	0.23299	1.148000	0.42385	0.544000	0.68410	ACC		0.468	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		62	347	0	0	0	1	0	62	347				
NIPBL	25836	broad.mit.edu	37	5	37051929	37051929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051929C>T	ENST00000282516.8	+	41	7502	c.7003C>T	c.(7003-7005)Cgg>Tgg	p.R2335W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2335					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGCTATGCGGAACAAGGC	0.313																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7003-7005)Cgg>Tgg		Nipped-B homolog (Drosophila)							82.0	87.0	85.0					5																	37051929		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051929C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7003C>T	5.37:g.37051929C>T	ENSP00000282516:p.Arg2335Trp					NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7502	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2335					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7003C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.828942	0.71258	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.73363	-0.74;-0.74	5.69	3.78	0.43462	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.81341	2.54	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.99;0.985	D	0.86754	0.1962	10	0.72032	D	0.01	-6.7737	14.2046	0.65725	0.4468:0.5532:0.0:0.0	.	2335;2335;2335	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	W	2335	ENSP00000282516:R2335W;ENSP00000406266:R2335W	ENSP00000282516:R2335W	R	+	1	2	NIPBL	37087686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.838000	0.39211	0.593000	0.29745	0.557000	0.71058	CGG		0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		44	231	0	0	0	1	0	44	231				
CCIN	881	broad.mit.edu	37	9	36169849	36169849	+	Missense_Mutation	SNP	G	G	A	rs547325705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169849G>A	ENST00000335119.2	+	1	461	c.350G>A	c.(349-351)cGa>cAa	p.R117Q		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	117	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R117L(1)|p.R117Q(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCACGCCTTCGAGTTCACTGT	0.507																																						ENST00000335119.2																			2	Substitution - Missense(2)	p.R117L(1)|p.R117Q(1)	large_intestine(1)|lung(1)	breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(349-351)cGa>cAa		calicin							123.0	106.0	112.0					9																	36169849		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169849G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.350G>A	9.37:g.36169849G>A	ENSP00000334996:p.Arg117Gln						p.R117Q	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	461	+			117			BTB.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.350G>A	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090890	0.20471	.	.	ENSG00000185972	ENST00000335119	T	0.70749	-0.51	5.26	3.4	0.38934	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.136685	0.32273	N	0.006338	T	0.51787	0.1695	L	0.28014	0.82	0.09310	N	0.999998	B	0.19331	0.035	B	0.09377	0.004	T	0.31336	-0.9947	10	0.25106	T	0.35	.	7.6467	0.28325	0.1909:0.0:0.8091:0.0	.	117	Q13939	CALI_HUMAN	Q	117	ENSP00000334996:R117Q	ENSP00000334996:R117Q	R	+	2	0	CCIN	36159849	0.121000	0.22262	0.890000	0.34922	0.900000	0.52787	0.886000	0.28241	1.358000	0.45922	-0.448000	0.05591	CGA		0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		26	382	0	0	0	1	0	26	382				
FAM86DP	692099	broad.mit.edu	37	3	75471286	75471286	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75471286G>A	ENST00000459803.1	-	0	1855					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TTTGGTTATGGACACATAACT	0.587																																						ENST00000459803.1																			0																																																			0							g.chr3:75471286G>A	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.75471286G>A								NR_024241.1						0	1855	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.587	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		27	119	0	0	0	1	0	27	119				
ZNF606	80095	broad.mit.edu	37	19	58490209	58490209	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490209T>C	ENST00000341164.4	-	7	2459	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF606_ENST00000536132.1_Silent_p.K523K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTATCTCATGTTTAGTGAGGG	0.423																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1837-1839)aaA>aaG		zinc finger protein 606							90.0	90.0	90.0					19																	58490209		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490209T>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1839A>G	19.37:g.58490209T>C						ZNF606_ENST00000536132.1_Silent_p.K523K	p.K613K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2459	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	613					A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.1839A>G	CCDS12968.1																																																																																				0.423	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		100	427	0	0	0	1	0	100	427				
TNN	63923	broad.mit.edu	37	1	175048561	175048561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175048561C>T	ENST00000239462.4	+	3	615	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	168	EGF-like 1.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCCTGCGAGCGGCTGGCCTG	0.736																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(502-504)Cgg>Tgg		tenascin N							5.0	7.0	6.0					1																	175048561		1883	3851	5734	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048561C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.502C>T	1.37:g.175048561C>T	ENSP00000239462:p.Arg168Trp						p.R168W	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	615	+		Breast(1374;0.000962)	168			EGF-like 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.502C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357543	0.24598	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.03358	3.96	4.46	3.53	0.40419	.	1.169990	0.06082	N	0.661968	T	0.09113	0.0225	M	0.81802	2.56	0.09310	N	0.999998	D;B	0.60160	0.987;0.159	B;B	0.38712	0.28;0.02	T	0.48896	-0.8994	10	0.87932	D	0	.	14.1649	0.65471	0.0:0.8483:0.1517:0.0	.	168;168	B3KXB6;Q9UQP3	.;TENN_HUMAN	W	168	ENSP00000239462:R168W	ENSP00000239462:R168W	R	+	1	2	TNN	173315184	0.004000	0.15560	0.423000	0.26634	0.069000	0.16628	1.331000	0.33793	0.948000	0.37687	0.491000	0.48974	CGG		0.736	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		28	65	0	0	0	1	0	28	65				
MAP3K1	4214	broad.mit.edu	37	5	56171053	56171053	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56171053C>A	ENST00000399503.3	+	10	1881	c.1881C>A	c.(1879-1881)atC>atA	p.I627I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	627					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACCAGTATCTCAGGAGATG	0.547																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1879-1881)atC>atA		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							72.0	78.0	76.0					5																	56171053		2060	4226	6286	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56171053C>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1881C>A	5.37:g.56171053C>A							p.I627I	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	10	1881	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	627						Silent	SNP	ENST00000399503.3	37	c.1881C>A	CCDS43318.1																																																																																				0.547	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		9	268	1	0	0.000274275	1	0.000278163	9	268				
MAGEC1	9947	broad.mit.edu	37	X	140995998	140995998	+	Silent	SNP	G	G	A	rs368536858		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995998G>A	ENST00000285879.4	+	4	3094	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_ENST00000406005.2_Silent_p.T3T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	936	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCTGACGAATGTCATCA	0.468										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2806-2808)acG>acA		melanoma antigen family C, 1		G		0,3835		0,0,0,1632,571	156.0	145.0	149.0		2808	-0.2	0.0	X		149	1,6727		0,0,1,2428,1871	no	coding-synonymous	MAGEC1	NM_005462.4		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		936/1143	140995998	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995998G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2808G>A	X.37:g.140995998G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.T3T	p.T936T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3094	+	Acute lymphoblastic leukemia(192;6.56e-05)		936			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2808G>A	CCDS35417.1																																																																																				0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		206	793	0	0	0	1	0	206	793				
C2CD3	26005	broad.mit.edu	37	11	73809190	73809190	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73809190C>T	ENST00000334126.7	-	16	3069	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.R948Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	948					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TAAAAAGACTCGAAGACTCCC	0.468																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2842-2844)cGa>cAa		C2 calcium-dependent domain containing 3							96.0	101.0	100.0					11																	73809190		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73809190C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2843G>A	11.37:g.73809190C>T	ENSP00000334379:p.Arg948Gln					C2CD3_ENST00000313663.7_Missense_Mutation_p.R948Q	p.R948Q			Q4AC94	C2CD3_HUMAN			16	3069	-	Breast(11;4.16e-06)		948					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2843G>A		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808921	0.90707	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.39997	1.05;1.05	5.62	5.62	0.85841	.	0.055819	0.64402	D	0.000002	T	0.51517	0.1679	L	0.37630	1.12	0.37872	D	0.930098	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.59425	D	0.04	-9.4236	9.4907	0.38958	0.0:0.7798:0.1446:0.0755	.	948	Q4AC94-1	.	Q	948	ENSP00000334379:R948Q;ENSP00000323339:R948Q	ENSP00000323339:R948Q	R	-	2	0	C2CD3	73486838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.794000	0.96219	0.650000	0.86243	CGA		0.468	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		75	403	0	0	0	1	0	75	403				
TMX4	56255	broad.mit.edu	37	20	7963222	7963222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963222C>A	ENST00000246024.2	-	8	941	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	242	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						cctcCGCATCCTGCAACTGTT	0.418																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(724-726)caG>caT		thioredoxin-related transmembrane protein 4							80.0	64.0	70.0					20																	7963222		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963222C>A		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.726G>T	20.37:g.7963222C>A	ENSP00000246024:p.Gln242His						p.Q242H	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			8	941	-			242			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.726G>T	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583302	0.46006	.	.	ENSG00000125827	ENST00000246024	T	0.11495	2.77	5.84	4.71	0.59529	.	0.572613	0.17713	N	0.164518	T	0.12603	0.0306	M	0.63428	1.95	0.31062	N	0.71406	P	0.37864	0.61	B	0.34873	0.191	T	0.03545	-1.1026	10	0.49607	T	0.09	-3.9684	10.6879	0.45854	0.0:0.9007:0.0:0.0993	.	242	Q9H1E5	TMX4_HUMAN	H	242	ENSP00000246024:Q242H	ENSP00000246024:Q242H	Q	-	3	2	TMX4	7911222	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.100000	0.41777	2.763000	0.94921	0.557000	0.71058	CAG		0.418	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		44	179	1	0	1.62957e-23	1	1.85347e-23	44	179				
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23433311G>A	ENST00000377009.3	-	1	171	c.138C>T	c.(136-138)gaC>gaT	p.D46D	CST11_ENST00000377007.3_Silent_p.D46D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473																																						ENST00000377009.3																			0				kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(136-138)gaC>gaT		cystatin 11							211.0	184.0	193.0					20																	23433311		2203	4300	6503	SO:0001819	synonymous_variant	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433311G>A	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>T	20.37:g.23433311G>A						CST11_ENST00000377007.3_Silent_p.D46D	p.D46D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN			1	171	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		46					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Silent	SNP	ENST00000377009.3	37	c.138C>T	CCDS13155.1																																																																																				0.473	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		172	658	0	0	0	1	0	172	658				
MFSD12	126321	broad.mit.edu	37	19	3547970	3547970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3547970C>T	ENST00000355415.2	-	4	882	c.713G>A	c.(712-714)gGc>gAc	p.G238D	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.G238D|MFSD12_ENST00000398558.4_Missense_Mutation_p.G238D	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	238					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CTCCCGGGTGCCCAGGTGGAA	0.701																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(712-714)gGc>gAc		major facilitator superfamily domain containing 12							15.0	19.0	17.0					19																	3547970		1969	4102	6071	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3547970C>T	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.713G>A	19.37:g.3547970C>T	ENSP00000347583:p.Gly238Asp					AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.G238D|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.G238D	p.G238D	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			4	882	-			238					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.713G>A	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862734	0.91511	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.81247	-1.47;-1.47;-1.47	4.62	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);	0.099649	0.64402	D	0.000002	D	0.90099	0.6907	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.83275	0.987;0.979;0.996	D	0.91496	0.5215	10	0.59425	D	0.04	-28.9866	16.4743	0.84128	0.0:1.0:0.0:0.0	.	238;229;238	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	D	238	ENSP00000374046:G238D;ENSP00000381566:G238D;ENSP00000347583:G238D	ENSP00000347583:G238D	G	-	2	0	C19orf28	3498970	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.409000	0.66374	2.112000	0.64535	0.555000	0.69702	GGC		0.701	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		46	168	0	0	0	1	0	46	168				
SAT2	112483	broad.mit.edu	37	17	7530896	7530896	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7530896G>T	ENST00000269298.5	-	1	277	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	SHBG_ENST00000576478.1_Intron|SHBG_ENST00000416273.3_5'Flank|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575903.1_5'Flank|SHBG_ENST00000441599.2_5'Flank|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000572262.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SHBG_ENST00000380450.4_5'Flank	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	20	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	ACCCGAATCAGCCTCAGGATA	0.677																																						ENST00000269298.5																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	kidney(1)|large_intestine(2)	3						c.(58-60)Ctg>Atg		spermidine/spermine N1-acetyltransferase family member 2	Spermine(DB00127)						56.0	50.0	52.0					17																	7530896		2203	4300	6503	SO:0001583	missense	112483					cytoplasm	diamine N-acetyltransferase activity	g.chr17:7530896G>T	AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.58C>A	17.37:g.7530896G>T	ENSP00000269298:p.Leu20Met					SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000380466.2_5'UTR	p.L20M	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN		READ - Rectum adenocarcinoma(115;0.166)	1	277	-			20			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000269298.5	37	c.58C>A	CCDS11116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.725|8.725	0.915223|0.915223	0.17907|0.17907	.|.	.|.	ENSG00000141504|ENSG00000141504	ENST00000380466|ENST00000269298	.|T	.|0.57436	.|0.4	4.95|4.95	-0.0586|-0.0586	0.13796|0.13796	.|GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.585199|.	0.13069|.	N|.	0.416296|.	T|T	0.21590|0.21590	0.0520|0.0520	N|N	0.02420|0.02420	-0.555|-0.555	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.09377	.|0.004	T|T	0.04454|0.04454	-1.0950|-1.0950	7|9	0.16896|0.24483	T|T	0.51|0.36	-44.0846|-44.0846	6.3391|6.3391	0.21312|0.21312	0.0939:0.0:0.3584:0.5477|0.0939:0.0:0.3584:0.5477	.|.	.|20	.|Q96F10	.|SAT2_HUMAN	D|M	93|20	.|ENSP00000269298:L20M	ENSP00000369833:A93D|ENSP00000269298:L20M	A|L	-|-	2|1	0|2	SAT2|SAT2	7471621|7471621	0.884000|0.884000	0.30299|0.30299	0.998000|0.998000	0.56505|0.56505	0.811000|0.811000	0.45836|0.45836	-0.159000|-0.159000	0.10056|0.10056	0.200000|0.200000	0.20447|0.20447	-0.126000|-0.126000	0.14955|0.14955	GCT|CTG		0.677	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491		51	247	1	0	4.86159e-25	1	5.57236e-25	51	247				
TBC1D2	55357	broad.mit.edu	37	9	100961829	100961829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100961829C>T	ENST00000375066.5	-	13	2679	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	874					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTGTTTCATGCGGAAGGGGTT	0.632																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2587-2589)cGc>cAc		TBC1 domain family, member 2							136.0	139.0	138.0					9																	100961829		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961829C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2588G>A	9.37:g.100961829C>T	ENSP00000364207:p.Arg863His					TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H	p.R863H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	13	2679	-		Myeloproliferative disorder(762;0.0255)	874					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2588G>A	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996325	0.54147	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.08720	3.06;3.48;3.08	5.51	2.54	0.30619	Rab-GAP/TBC domain (1);	0.423651	0.25774	N	0.028394	T	0.07818	0.0196	N	0.14661	0.345	0.26248	N	0.978766	D;D	0.57899	0.968;0.981	B;P	0.45449	0.288;0.481	T	0.12528	-1.0544	10	0.66056	D	0.02	.	17.0294	0.86457	0.0:0.5717:0.4283:0.0	.	874;863	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	H	863;656;414	ENSP00000364207:R863H;ENSP00000341567:R656H;ENSP00000364203:R414H	ENSP00000341567:R656H	R	-	2	0	TBC1D2	100001650	1.000000	0.71417	0.075000	0.20258	0.576000	0.36127	3.606000	0.54095	0.218000	0.20820	-0.416000	0.06073	CGC		0.632	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		217	1048	0	0	0	1	0	217	1048				
AFF1	4299	broad.mit.edu	37	4	88047336	88047336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88047336C>T	ENST00000307808.6	+	13	3058	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S	AFF1_ENST00000544085.1_Missense_Mutation_p.P518S|AFF1_ENST00000395146.4_Missense_Mutation_p.P887S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	880					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCAGCCAAGCCTGCACTTAA	0.587																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2638-2640)Cct>Tct		AF4/FMR2 family, member 1							73.0	72.0	72.0					4																	88047336		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88047336C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2638C>T	4.37:g.88047336C>T	ENSP00000305689:p.Pro880Ser					AFF1_ENST00000544085.1_Missense_Mutation_p.P518S|AFF1_ENST00000395146.4_Missense_Mutation_p.P887S	p.P880S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	13	3058	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	880					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2638C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	7.894	0.732993	0.15507	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.68624	-0.34;-0.34;-0.34	5.65	0.25	0.15535	.	0.463760	0.20292	N	0.095213	T	0.51669	0.1688	M	0.65975	2.015	0.31347	N	0.682981	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.15052	0.012;0.012;0.012	T	0.37911	-0.9685	10	0.09084	T	0.74	-1.5827	2.1445	0.03783	0.1853:0.4709:0.0986:0.2452	.	887;880;880	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	887;880;518	ENSP00000378578:P887S;ENSP00000305689:P880S;ENSP00000440843:P518S	ENSP00000305689:P880S	P	+	1	0	AFF1	88266360	0.575000	0.26692	0.996000	0.52242	0.291000	0.27294	0.436000	0.21526	0.061000	0.16311	-0.142000	0.14014	CCT		0.587	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		78	399	0	0	0	1	0	78	399				
DYNC1H1	1778	broad.mit.edu	37	14	102453024	102453024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102453024C>T	ENST00000360184.4	+	8	2626	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	821	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAGGCATTGCGTTGGTGTGG	0.502																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(2461-2463)gCg>gTg		dynein, cytoplasmic 1, heavy chain 1							117.0	105.0	109.0					14																	102453024		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102453024C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2462C>T	14.37:g.102453024C>T	ENSP00000348965:p.Ala821Val						p.A821V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			8	2626	+			821			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2462C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536019	0.45176	.	.	ENSG00000197102	ENST00000360184	T	0.56941	0.43	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.106999	0.64402	D	0.000004	T	0.45337	0.1337	L	0.40543	1.245	0.54753	D	0.999985	B	0.32051	0.354	B	0.24269	0.052	T	0.31971	-0.9924	10	0.31617	T	0.26	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	821	Q14204	DYHC1_HUMAN	V	821	ENSP00000348965:A821V	ENSP00000348965:A821V	A	+	2	0	DYNC1H1	101522777	1.000000	0.71417	0.276000	0.24689	0.607000	0.37147	7.425000	0.80255	2.767000	0.95098	0.655000	0.94253	GCG		0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		86	335	0	0	0	1	0	86	335				
ABCA1	19	broad.mit.edu	37	9	107546610	107546610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546610C>A	ENST00000374736.3	-	50	7166	c.6772G>T	c.(6772-6774)Gaa>Taa	p.E2258*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2258					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACATAGCTTTCTTTCACTTTC	0.413																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6772-6774)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						193.0	180.0	185.0					9																	107546610		2203	4300	6503	SO:0001587	stop_gained	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107546610C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6772G>T	9.37:g.107546610C>A	ENSP00000363868:p.Glu2258*						p.E2258*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	50	7166	-			2258					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.6772G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	50	16.076903	0.99853	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7599	0.96309	0.0:1.0:0.0:0.0	.	.	.	.	X	2258	.	ENSP00000363868:E2258X	E	-	1	0	ABCA1	106586431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.664000	0.68045	2.752000	0.94435	0.650000	0.86243	GAA		0.413	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		19	491	1	0	7.45023e-12	1	7.97024e-12	19	491				
ITIH3	3699	broad.mit.edu	37	3	52830660	52830660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52830660C>T	ENST00000449956.2	+	3	284	c.278C>T	c.(277-279)aCc>aTc	p.T93I	ITIH3_ENST00000416872.2_Missense_Mutation_p.T93I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	93	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCAACTTCACCTTGTGGGTA	0.582																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(277-279)aCc>aTc		inter-alpha-trypsin inhibitor heavy chain 3							55.0	61.0	59.0					3																	52830660		2141	4280	6421	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52830660C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.278C>T	3.37:g.52830660C>T	ENSP00000415769:p.Thr93Ile					ITIH3_ENST00000416872.2_Missense_Mutation_p.T93I	p.T93I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	3	284	+			93			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.278C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062182	0.76187	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.23950	1.88;1.88	4.79	4.79	0.61399	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.047355	0.85682	D	0.000000	T	0.40719	0.1128	L	0.45470	1.425	0.43242	D	0.995154	D;P	0.61080	0.989;0.902	P;P	0.61003	0.882;0.716	T	0.20739	-1.0266	10	0.66056	D	0.02	-28.0532	14.8603	0.70376	0.0:1.0:0.0:0.0	.	93;93	E7ET33;Q06033	.;ITIH3_HUMAN	I	93;93;88;93;93	ENSP00000413922:T93I;ENSP00000415769:T93I	ENSP00000273291:T88I	T	+	2	0	ITIH3	52805700	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.596000	0.36718	2.478000	0.83669	0.561000	0.74099	ACC		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		4	106	0	0	0	1	0	4	106				
FLNC	2318	broad.mit.edu	37	7	128470956	128470956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128470956C>T	ENST00000325888.8	+	1	526	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTTCCATCCGCGCCCCAACTT	0.652																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(265-267)Cgc>Tgc		filamin C, gamma							59.0	61.0	60.0					7																	128470956		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470956C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.265C>T	7.37:g.128470956C>T	ENSP00000327145:p.Arg89Cys					FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	p.R89C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	526	+			89			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.265C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586300	0.86851	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.60672	0.17;0.17	4.49	3.59	0.41128	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	M	0.87547	2.89	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77619	-0.2520	10	0.87932	D	0	.	8.9211	0.35612	0.1678:0.6698:0.1624:0.0	.	89;89	Q14315-2;Q14315	.;FLNC_HUMAN	C	89	ENSP00000327145:R89C;ENSP00000344002:R89C	ENSP00000327145:R89C	R	+	1	0	FLNC	128258192	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.195000	0.51013	0.978000	0.38470	0.561000	0.74099	CGC		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			10	314	0	0	0	1	0	10	314				
LZTS1	11178	broad.mit.edu	37	8	20110763	20110763	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110763G>A	ENST00000381569.1	-	3	1036	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	LZTS1_ENST00000522290.1_Silent_p.L227L|LZTS1_ENST00000265801.6_Silent_p.L227L			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	227					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAGCCTTCAGGCTCATCATG	0.637																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(679-681)Ctg>Ttg		leucine zipper, putative tumor suppressor 1							69.0	61.0	64.0					8																	20110763		2203	4300	6503	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110763G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.679C>T	8.37:g.20110763G>A						LZTS1_ENST00000265801.6_Silent_p.L227L|LZTS1_ENST00000522290.1_Silent_p.L227L	p.L227L			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1036	-			227					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.679C>T	CCDS6015.1																																																																																				0.637	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		93	360	0	0	0	1	0	93	360				
LMO1	4004	broad.mit.edu	37	11	8248572	8248572	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8248572C>T	ENST00000335790.3	-	3	810	c.315G>A	c.(313-315)cgG>cgA	p.R105R	LMO1_ENST00000428101.2_Silent_p.R104R|LMO1_ENST00000534484.1_Silent_p.R94R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	105	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ACACGTTGTCCCGGGCCCGCA	0.632			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma																																ENST00000335790.3			yes	Dom	yes		11	11p15	4004	"""T, A"""	LIM domain only 1 (rhombotin 1) (RBTN1)			L	TRD@	neuroblastoma	"""T-ALL, neuroblastoma"""		0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5						c.(313-315)cgG>cgA		LIM domain only 1 (rhombotin 1)							54.0	62.0	59.0					11																	8248572		2110	4234	6344	SO:0001819	synonymous_variant	4004				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:8248572C>T	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.315G>A	11.37:g.8248572C>T						LMO1_ENST00000534484.1_Silent_p.R94R|LMO1_ENST00000428101.2_Silent_p.R104R	p.R105R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN		Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)	3	810	-			105			LIM zinc-binding 2.		E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	ENST00000335790.3	37	c.315G>A	CCDS44534.1																																																																																				0.632	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	NM_002315		32	170	0	0	0	1	0	32	170				
TMTC1	83857	broad.mit.edu	37	12	29709921	29709921	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29709921G>T	ENST00000539277.1	-	10	1603	c.1545C>A	c.(1543-1545)cgC>cgA	p.R515R	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Silent_p.R407R|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000551659.1_Silent_p.R577R|TMTC1_ENST00000381224.2_Silent_p.R469R	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	515						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CACTTGCATGGCGTGGATACA	0.453																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1219-1221)cgC>cgA		transmembrane and tetratricopeptide repeat containing 1							155.0	137.0	143.0					12																	29709921		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29709921G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1545C>A	12.37:g.29709921G>T						TMTC1_ENST00000381224.2_Silent_p.R469R|TMTC1_ENST00000539277.1_Silent_p.R515R|TMTC1_ENST00000551659.1_Silent_p.R577R|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000319685.8_5'UTR	p.R407R	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			10	1694	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		515					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.1221C>A	CCDS53772.1																																																																																				0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		63	286	1	0	9.4991e-31	1	1.11549e-30	63	286				
WDR78	79819	broad.mit.edu	37	1	67299780	67299780	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67299780T>C	ENST00000371026.3	-	12	1840	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E	WDR78_ENST00000431318.1_Silent_p.E341E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	595					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTCGATCTTGTTCTATCCACT	0.333																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1783-1785)gaA>gaG		WD repeat domain 78							100.0	95.0	96.0					1																	67299780		2203	4300	6503	SO:0001819	synonymous_variant	79819							g.chr1:67299780T>C	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1785A>G	1.37:g.67299780T>C						WDR78_ENST00000431318.1_Silent_p.E341E	p.E595E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			12	1840	-			595					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	c.1785A>G	CCDS635.1																																																																																				0.333	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		37	140	0	0	0	1	0	37	140				
TLE6	79816	broad.mit.edu	37	19	2993462	2993462	+	Missense_Mutation	SNP	C	C	A	rs201023348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2993462C>A	ENST00000246112.4	+	15	1620	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E	TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	473					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGAGGACTGGGTGCTGC	0.632																																						ENST00000246112.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10						c.(1417-1419)gaC>gaA		transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)							42.0	41.0	41.0					19																	2993462		2203	4300	6503	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2993462C>A	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1419C>A	19.37:g.2993462C>A	ENSP00000246112:p.Asp473Glu					TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	p.D473E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1620	+			350					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.1419C>A	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487138	0.26686	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.11385	2.78;2.78	3.38	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.12689	0.0308	L	0.43923	1.385	0.35456	D	0.796125	D;P;P;D	0.54772	0.968;0.859;0.937;0.968	P;P;B;P	0.52758	0.708;0.619;0.414;0.569	T	0.02721	-1.1119	9	0.02654	T	1	-46.1116	10.5257	0.44948	0.0:1.0:0.0:0.0	.	473;331;350;350	C9JGZ7;Q9Y6S1;Q9H808;Q6PJM9	.;.;TLE6_HUMAN;.	E	473;473;350;350	ENSP00000246112:D473E;ENSP00000406893:D350E	ENSP00000246112:D473E	D	+	3	2	TLE6	2944462	0.998000	0.40836	0.859000	0.33776	0.284000	0.27059	0.605000	0.24179	2.202000	0.70862	0.561000	0.74099	GAC		0.632	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		31	185	1	0	2.61193e-14	1	2.83483e-14	31	185				
NAV2	89797	broad.mit.edu	37	11	20066559	20066559	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20066559C>T	ENST00000396087.3	+	15	3413	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000396085.1_Missense_Mutation_p.P1082L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1105					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGCTTTCTCCTAAAGCCTCC	0.542																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(3244-3246)cCt>cTt		neuron navigator 2							53.0	50.0	51.0					11																	20066559		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20066559C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3314C>T	11.37:g.20066559C>T	ENSP00000379396:p.Pro1105Leu					NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000396087.3_Missense_Mutation_p.P1105L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L	p.P1082L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			14	3606	+			1105					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3245C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404617	0.62288	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.39036	0.1063	N	0.24115	0.695	0.80722	D	1	D;D;D;B;D	0.89917	1.0;1.0;1.0;0.166;1.0	D;D;D;B;D	0.91635	0.999;0.999;0.999;0.108;0.999	T	0.08513	-1.0718	9	.	.	.	.	19.6575	0.95849	0.0:1.0:0.0:0.0	.	1105;168;168;1082;1018	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	L	1018;1082;1082;1105;1034;1036;168;168;168;168	ENSP00000353871:P1018L;ENSP00000379394:P1082L;ENSP00000309577:P1082L;ENSP00000379396:P1105L;ENSP00000435395:P1034L;ENSP00000443489:P1036L;ENSP00000437316:P168L;ENSP00000437136:P168L;ENSP00000312169:P168L	.	P	+	2	0	NAV2	20023135	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.776000	0.85560	2.728000	0.93425	0.650000	0.86243	CCT		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		57	235	0	0	0	1	0	57	235				
HS3ST2	9956	broad.mit.edu	37	16	22826268	22826268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22826268C>T	ENST00000261374.3	+	1	771	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	113					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGTACCAAGCGGTTGCCCCA	0.716																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(337-339)Cgg>Tgg		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							10.0	12.0	11.0					16																	22826268		2184	4293	6477	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22826268C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.337C>T	16.37:g.22826268C>T	ENSP00000261374:p.Arg113Trp						p.R113W	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	771	+			113					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.337C>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994931	0.74703	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.51574	0.7	5.12	3.01	0.34805	.	0.053328	0.64402	D	0.000001	T	0.51210	0.1661	L	0.36672	1.1	0.53688	D	0.999977	D	0.71674	0.998	D	0.63793	0.918	T	0.51888	-0.8648	10	0.72032	D	0.01	.	7.645	0.28315	0.2493:0.6578:0.0:0.0929	.	113	Q9Y278	HS3S2_HUMAN	W	113;121	ENSP00000261374:R113W	ENSP00000261374:R113W	R	+	1	2	HS3ST2	22733769	0.998000	0.40836	1.000000	0.80357	0.927000	0.56198	0.513000	0.22770	1.137000	0.42214	0.655000	0.94253	CGG		0.716	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		13	87	0	0	0	1	0	13	87				
MUC6	4588	broad.mit.edu	37	11	1029525	1029525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1029525C>A	ENST00000421673.2	-	9	1156	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	369					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCTCCCCGGGGGCATA	0.667																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1105-1107)gGg>gTg		mucin 6, oligomeric mucus/gel-forming							37.0	44.0	42.0					11																	1029525		1959	4122	6081	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1029525C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1106G>T	11.37:g.1029525C>A	ENSP00000406861:p.Gly369Val						p.G369V	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1156	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	369					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1106G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.753864	0.69648	.	.	ENSG00000184956	ENST00000421673	T	0.74421	-0.84	3.84	2.92	0.33932	.	0.000000	0.31257	U	0.007963	D	0.89051	0.6605	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.90475	0.4456	10	0.87932	D	0	.	10.9721	0.47444	0.0:0.9048:0.0:0.0952	.	369	Q6W4X9	MUC6_HUMAN	V	369	ENSP00000406861:G369V	ENSP00000406861:G369V	G	-	2	0	MUC6	1019525	0.998000	0.40836	0.267000	0.24556	0.028000	0.11728	6.200000	0.72118	0.920000	0.36970	0.457000	0.33378	GGG		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		12	143	1	0	2.68362e-12	1	2.87888e-12	12	143				
CXorf22	170063	broad.mit.edu	37	X	35969425	35969425	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35969425G>T	ENST00000297866.5	+	5	900	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	278										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATAGCCCAGAGCCCATAAATT	0.413																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(832-834)gaG>gaT		chromosome X open reading frame 22							56.0	50.0	52.0					X																	35969425		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35969425G>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.834G>T	X.37:g.35969425G>T	ENSP00000297866:p.Glu278Asp						p.E278D	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			5	900	+			278					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.834G>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600097	0.28534	.	.	ENSG00000165164	ENST00000297866	T	0.15603	2.41	5.76	3.29	0.37713	.	0.485709	0.24033	N	0.042164	T	0.17746	0.0426	M	0.62723	1.935	0.23594	N	0.997333	P	0.41080	0.737	P	0.45167	0.472	T	0.08576	-1.0715	10	0.18710	T	0.47	-30.4234	3.1986	0.06641	0.547:0.0:0.2782:0.1748	.	278	Q6ZTR5	CX022_HUMAN	D	278	ENSP00000297866:E278D	ENSP00000297866:E278D	E	+	3	2	CXorf22	35879346	0.979000	0.34478	0.688000	0.30117	0.437000	0.31866	2.190000	0.42630	0.807000	0.34208	-0.503000	0.04515	GAG		0.413	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		41	129	1	0	1.07121e-22	1	1.21384e-22	41	129				
NUTM1	256646	broad.mit.edu	37	15	34640559	34640559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34640559G>T	ENST00000333756.4	+	2	561	c.406G>T	c.(406-408)Gca>Tca	p.A136S	NUTM1_ENST00000537011.1_Missense_Mutation_p.A164S|NUTM1_ENST00000438749.3_Missense_Mutation_p.A154S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	136	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATTTGTGACAGCATCTAATGT	0.557																																						ENST00000537011.1																			0											c.(490-492)Gca>Tca		NUT midline carcinoma, family member 1							69.0	59.0	62.0					15																	34640559		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34640559G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.406G>T	15.37:g.34640559G>T	ENSP00000329448:p.Ala136Ser					NUTM1_ENST00000333756.4_Missense_Mutation_p.A136S|NUTM1_ENST00000438749.3_Missense_Mutation_p.A154S	p.A164S							3	872	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.490G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799968	0.31869	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28069	1.63;1.63;1.63	5.69	0.226	0.15353	Nuclear Testis  protein, N-terminal (1);	0.456783	0.20699	N	0.087312	T	0.36248	0.0960	M	0.70595	2.14	0.09310	N	1	D;D;P	0.58970	0.984;0.98;0.955	P;P;P	0.53006	0.715;0.592;0.666	T	0.15464	-1.0436	10	0.39692	T	0.17	.	4.5545	0.12130	0.2598:0.3088:0.4314:0.0	.	154;164;136	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	164;154;136;136	ENSP00000444896:A164S;ENSP00000407031:A154S;ENSP00000329448:A136S	ENSP00000329448:A136S	A	+	1	0	C15orf55	32427851	0.005000	0.15991	0.001000	0.08648	0.100000	0.18952	0.322000	0.19576	0.057000	0.16193	0.655000	0.94253	GCA		0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		34	212	1	0	1.04352e-10	1	1.10821e-10	34	212				
ZNF598	90850	broad.mit.edu	37	16	2048484	2048484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048484C>T	ENST00000563630.1	-	12	2541	c.2299G>A	c.(2299-2301)Gcc>Acc	p.A767T	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T|ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	822							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTGCTTGGCCGTGTCGGGC	0.582																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(2299-2301)Gcc>Acc		zinc finger protein 598							29.0	32.0	31.0					16																	2048484		1905	4128	6033	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2048484C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2299G>A	16.37:g.2048484C>T	ENSP00000455882:p.Ala767Thr					ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T|ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T	p.A767T			Q86UK7	ZN598_HUMAN			12	2541	-			822					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.2299G>A		.	.	.	.	.	.	.	.	.	.	.	11.10	1.539123	0.27475	.	.	ENSG00000167962	ENST00000431526	T	0.17854	2.25	4.77	2.83	0.33086	.	0.412070	0.28322	N	0.015774	T	0.11196	0.0273	L	0.28458	0.855	0.24512	N	0.994204	B;B	0.12013	0.005;0.003	B;B	0.14578	0.011;0.004	T	0.31308	-0.9948	10	0.17832	T	0.49	-19.0865	9.7555	0.40500	0.0:0.8338:0.0:0.1662	.	822;814	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	T	822	ENSP00000411409:A822T	ENSP00000411409:A822T	A	-	1	0	ZNF598	1988485	0.466000	0.25823	0.920000	0.36463	0.778000	0.44026	1.064000	0.30579	0.625000	0.30304	0.462000	0.41574	GCC		0.582	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		67	230	0	0	0	1	0	67	230				
CYP26B1	56603	broad.mit.edu	37	2	72371142	72371142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371142G>A	ENST00000001146.2	-	2	608	c.405C>T	c.(403-405)ggC>ggT	p.G135G	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	135					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGGATGTCGCCAATGGAAT	0.622																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(403-405)ggC>ggT		cytochrome P450, family 26, subfamily B, polypeptide 1							61.0	60.0	60.0					2																	72371142		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72371142G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.405C>T	2.37:g.72371142G>A						CYP26B1_ENST00000546307.1_Intron	p.G135G	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			2	608	-			135					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.405C>T	CCDS1919.1																																																																																				0.622	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		24	378	0	0	0	1	0	24	378				
FRY	10129	broad.mit.edu	37	13	32747543	32747543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32747543C>T	ENST00000380250.3	+	19	2687	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	731						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAGTCGGAACGAGGTCCCCA	0.448																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2191-2193)Cga>Tga		furry homolog (Drosophila)							145.0	148.0	147.0					13																	32747543		1983	4165	6148	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32747543C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2191C>T	13.37:g.32747543C>T	ENSP00000369600:p.Arg731*						p.R731*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	19	2687	+		Lung SC(185;0.0271)	731					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.2191C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	45	11.495109	0.99568	.	.	ENSG00000073910	ENST00000380250	.	.	.	5.75	3.84	0.44239	.	0.064498	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.018	0.71600	0.2216:0.7784:0.0:0.0	.	.	.	.	X	731	.	ENSP00000369600:R731X	R	+	1	2	FRY	31645543	0.894000	0.30519	0.967000	0.41034	0.999000	0.98932	1.229000	0.32600	2.708000	0.92522	0.650000	0.86243	CGA		0.448	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		86	425	0	0	0	1	0	86	425				
NCOA3	8202	broad.mit.edu	37	20	46264735	46264735	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264735T>G	ENST00000371998.3	+	12	1796	c.1605T>G	c.(1603-1605)acT>acG	p.T535T	NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000372004.3_Silent_p.T535T|NCOA3_ENST00000341724.6_Silent_p.T545T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	535	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTGTGGGGACTTCCCTTTTAT	0.478																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1603-1605)acT>acG		nuclear receptor coactivator 3							86.0	84.0	84.0					20																	46264735		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46264735T>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1605T>G	20.37:g.46264735T>G						NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000371998.3_Silent_p.T535T|NCOA3_ENST00000341724.6_Silent_p.T545T	p.T535T	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			12	1821	+			535			Ser-rich.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.1605T>G	CCDS13407.1																																																																																				0.478	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		95	416	0	0	0	1	0	95	416				
PKHD1L1	93035	broad.mit.edu	37	8	110509151	110509151	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509151A>C	ENST00000378402.5	+	64	10435	c.10331A>C	c.(10330-10332)cAg>cCg	p.Q3444P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3444					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCAAGGCCAGTTTAATCCT	0.353										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10330-10332)cAg>cCg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							143.0	135.0	138.0					8																	110509151		1809	4077	5886	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509151A>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10331A>C	8.37:g.110509151A>C	ENSP00000367655:p.Gln3444Pro	HNSCC(38;0.096)					p.Q3444P	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10435	+			3444					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10331A>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	5.872	0.345001	0.11126	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80480	-1.38;-1.38	5.64	1.7	0.24286	Pectin lyase fold/virulence factor (1);	0.537282	0.18922	N	0.127454	T	0.70684	0.3252	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.56601	-0.7952	10	0.33141	T	0.24	.	5.5863	0.17277	0.5405:0.1574:0.0:0.3021	.	3444	Q86WI1	PKHL1_HUMAN	P	3444;372	ENSP00000367655:Q3444P;ENSP00000437376:Q372P	ENSP00000367655:Q3444P	Q	+	2	0	PKHD1L1	110578327	0.180000	0.23148	0.176000	0.23000	0.438000	0.31896	0.570000	0.23653	0.044000	0.15775	0.528000	0.53228	CAG		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		59	335	0	0	0	1	0	59	335				
GAP43	2596	broad.mit.edu	37	3	115395285	115395285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395285G>A	ENST00000305124.6	+	2	822	c.456G>A	c.(454-456)ccG>ccA	p.P152P	GAP43_ENST00000393780.3_Silent_p.P188P	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	152					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ATAACTCGCCGTCCTCCAAGG	0.617																																						ENST00000393780.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(562-564)ccG>ccA		growth associated protein 43							37.0	40.0	39.0					3																	115395285		2203	4298	6501	SO:0001819	synonymous_variant	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395285G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.456G>A	3.37:g.115395285G>A						GAP43_ENST00000305124.6_Silent_p.P152P	p.P188P	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	1032	+			152					A8K0Y4	Silent	SNP	ENST00000305124.6	37	c.564G>A	CCDS33830.1																																																																																				0.617	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		53	200	0	0	0	1	0	53	200				
GSG1L	146395	broad.mit.edu	37	16	27856320	27856320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27856320C>T	ENST00000447459.2	-	4	697	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	GSG1L_ENST00000380898.2_Missense_Mutation_p.G50S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S|GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	205					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCCTCAGGACCGAGGCTCACG	0.597																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(148-150)Ggt>Agt		GSG1-like							95.0	64.0	75.0					16																	27856320		2197	4300	6497	SO:0001583	missense	146395					integral to membrane		g.chr16:27856320C>T	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.613G>A	16.37:g.27856320C>T	ENSP00000394954:p.Gly205Ser					GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S|GSG1L_ENST00000447459.2_Missense_Mutation_p.G205S|GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S	p.G50S			Q6UXU4	GSG1L_HUMAN			4	697	-			205					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.148G>A	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699849	0.96802	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T;D;D	0.87571	0.96;1.16;-2.27;-2.27	5.25	5.25	0.73442	.	0.057467	0.64402	D	0.000002	D	0.93262	0.7853	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93950	0.7231	10	0.87932	D	0	-6.9936	17.6218	0.88084	0.0:1.0:0.0:0.0	.	154;50;205	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	S	205;154;50;50	ENSP00000394954:G205S;ENSP00000379074:G154S;ENSP00000370283:G50S;ENSP00000370282:G50S	ENSP00000370282:G50S	G	-	1	0	GSG1L	27763821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.496000	0.81526	2.460000	0.83146	0.655000	0.94253	GGT		0.597	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		21	95	0	0	0	1	0	21	95				
HARS	3035	broad.mit.edu	37	5	140056961	140056961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140056961G>A	ENST00000504156.1	-	8	1493	c.774C>T	c.(772-774)ggC>ggT	p.G258G	HARS_ENST00000457527.2_Silent_p.G238G|HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000415192.2_Silent_p.G184G|HARS_ENST00000504366.1_Silent_p.G189G|HARS_ENST00000448240.1_Silent_p.G63G	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	258					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGTGCAAGGCCCTTCTCTC	0.602																																						ENST00000504366.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(565-567)ggC>ggT		histidyl-tRNA synthetase	L-Histidine(DB00117)						169.0	142.0	151.0					5																	140056961		2203	4300	6503	SO:0001819	synonymous_variant	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056961G>A	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.774C>T	5.37:g.140056961G>A						HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000448240.1_Silent_p.G63G|HARS_ENST00000457527.2_Silent_p.G238G|HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000504156.1_Silent_p.G258G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000415192.2_Silent_p.G184G	p.G189G			P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	2386	-			258					B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	ENST00000504156.1	37	c.567C>T	CCDS4237.1																																																																																				0.602	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		85	439	0	0	0	1	0	85	439				
MXRA5	25878	broad.mit.edu	37	X	3240577	3240577	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3240577G>T	ENST00000217939.6	-	5	3303	c.3149C>A	c.(3148-3150)aCt>aAt	p.T1050N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1050						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGTCTTGAGTGCTTAGACT	0.443																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3148-3150)aCt>aAt		matrix-remodelling associated 5							175.0	153.0	160.0					X																	3240577		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240577G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3149C>A	X.37:g.3240577G>T	ENSP00000217939:p.Thr1050Asn						p.T1050N	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3303	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1050					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3149C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.939047	0.34189	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	3.29	3.29	0.37713	.	0.381301	0.18935	U	0.127103	T	0.55689	0.1936	L	0.32530	0.975	0.09310	N	1	P	0.50528	0.936	P	0.45343	0.477	T	0.51466	-0.8702	10	0.72032	D	0.01	.	7.2354	0.26067	0.2147:0.0:0.7853:0.0	.	1050	Q9NR99	MXRA5_HUMAN	N	1050	ENSP00000217939:T1050N	ENSP00000217939:T1050N	T	-	2	0	MXRA5	3250577	0.001000	0.12720	0.020000	0.16555	0.052000	0.14988	0.470000	0.22084	1.440000	0.47531	0.522000	0.50473	ACT		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		116	487	1	0	7.80801e-58	1	9.78215e-58	116	487				
TEX13A	56157	broad.mit.edu	37	X	104464394	104464394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464394G>T	ENST00000413579.1	-	3	595	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L162M|TEX13A_ENST00000372578.3_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	162							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCAGTGGCCAGGCCTGGCCAC	0.652																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(484-486)Ctg>Atg		testis expressed 13A							20.0	23.0	22.0					X																	104464394		2049	4071	6120	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464394G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.484C>A	X.37:g.104464394G>T	ENSP00000399753:p.Leu162Met					TEX13A_ENST00000413579.1_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L162M	p.L162M	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	595	-			162					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.484C>A		.	.	.	.	.	.	.	.	.	.	G	10.95	1.495161	0.26774	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.65	0.636	0.17729	.	1.458410	0.05184	N	0.501986	T	0.59376	0.2189	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.70487	0.969;0.969	T	0.42155	-0.9468	8	0.51188	T	0.08	.	7.7274	0.28767	0.0:0.5363:0.4637:0.0	.	162;162	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	162	.	ENSP00000361656:L162M	L	-	1	2	TEX13A	104351050	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.664000	0.05292	0.056000	0.16144	0.422000	0.28245	CTG		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		6	264	1	0	2.0095e-06	1	2.07161e-06	6	264				
WDR3	10885	broad.mit.edu	37	1	118492397	118492397	+	Silent	SNP	A	A	G	rs111307478	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118492397A>G	ENST00000349139.5	+	14	1595	c.1548A>G	c.(1546-1548)gcA>gcG	p.A516A		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	516						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGGTGGTGCAGATAAATCTG	0.313																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1546-1548)gcA>gcG		WD repeat domain 3							88.0	89.0	89.0					1																	118492397		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118492397A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1548A>G	1.37:g.118492397A>G							p.A516A	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	14	1595	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	516						Silent	SNP	ENST00000349139.5	37	c.1548A>G	CCDS898.1																																																																																				0.313	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		56	227	0	0	0	1	0	56	227				
DSC3	1825	broad.mit.edu	37	18	28602455	28602455	+	Silent	SNP	C	C	T	rs573762324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28602455C>T	ENST00000360428.4	-	7	869	c.789G>A	c.(787-789)ggG>ggA	p.G263G	DSC3_ENST00000434452.1_Silent_p.G263G	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	263	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CACAAACCACCCCCACTGTAG	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16554	0.0		0.0	False		,,,				2504	0.0					ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(787-789)ggG>ggA		desmocollin 3							122.0	109.0	113.0					18																	28602455		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28602455C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.789G>A	18.37:g.28602455C>T						DSC3_ENST00000360428.4_Silent_p.G263G	p.G263G	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		7	943	-			263			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.789G>A	CCDS32810.1																																																																																				0.388	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		41	239	0	0	0	1	0	41	239				
ABCA1	19	broad.mit.edu	37	9	107589230	107589230	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107589230G>A	ENST00000374736.3	-	16	2730	c.2336C>T	c.(2335-2337)gCt>gTt	p.A779V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	779					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGTACTCACAGCGAAGATCTT	0.517																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.e16+1		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						90.0	77.0	81.0					9																	107589230		2203	4300	6503	SO:0001630	splice_region_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107589230G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2337+1C>T	9.37:g.107589230G>A						ABCA1_ENST00000494467.1_5'UTR	p.A779_splice	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	16	2730	-			779					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	SNP	ENST00000374736.3	37	c.2337_splice	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439234	0.43326	.	.	ENSG00000165029	ENST00000374736	D	0.84370	-1.84	5.45	0.529	0.17095	.	0.434585	0.26518	N	0.023925	T	0.73908	0.3647	L	0.31804	0.96	0.37658	D	0.922663	B	0.10296	0.003	B	0.20384	0.029	T	0.60727	-0.7206	10	0.26408	T	0.33	.	9.5601	0.39364	0.3416:0.0:0.6584:0.0	.	779	O95477	ABCA1_HUMAN	V	779	ENSP00000363868:A779V	ENSP00000363868:A779V	A	-	2	0	ABCA1	106629051	0.965000	0.33210	0.001000	0.08648	0.573000	0.36030	2.795000	0.47861	-0.170000	0.10816	0.655000	0.94253	GCT		0.517	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Missense_Mutation	32	160	0	0	0	1	0	32	160				
PTPN23	25930	broad.mit.edu	37	3	47449834	47449834	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47449834G>T	ENST00000265562.4	+	15	1261		c.e15-1		PTPN23_ENST00000431726.1_Splice_Site	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23						cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCCCACAGCCAGTTCATG	0.582																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.e15-1		protein tyrosine phosphatase, non-receptor type 23							79.0	74.0	76.0					3																	47449834		2203	4300	6503	SO:0001630	splice_region_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47449834G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1185-1G>T	3.37:g.47449834G>T						PTPN23_ENST00000431726.1_Splice_Site		NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	15	1261	+								A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Splice_Site	SNP	ENST00000265562.4	37		CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477482	0.63849	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4941	0.75634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN23	47424838	1.000000	0.71417	0.990000	0.47175	0.727000	0.41649	9.305000	0.96197	2.195000	0.70347	0.557000	0.71058	.		0.582	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466	Intron	57	311	1	0	1.19403e-26	1	1.3775e-26	57	311				
SEC16B	89866	broad.mit.edu	37	1	177930826	177930826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177930826G>A	ENST00000308284.6	-	6	775	c.686C>T	c.(685-687)tCt>tTt	p.S229F	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S229F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	229					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGAGACCAGACTCACGCTG	0.512																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(685-687)tCt>tTt		SEC16 homolog B (S. cerevisiae)							48.0	50.0	49.0					1																	177930826		1971	4160	6131	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177930826G>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.686C>T	1.37:g.177930826G>A	ENSP00000308339:p.Ser229Phe					RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S229F|SEC16B_ENST00000464631.1_Missense_Mutation_p.S229F	p.S229F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			6	775	-			229					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.686C>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297096	0.81025	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.50813	2.31;0.73	5.79	5.79	0.91817	.	0.086330	0.51477	D	0.000092	T	0.59595	0.2205	M	0.66939	2.045	0.49687	D	0.999813	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.55923	0.787;0.771;0.771	T	0.52866	-0.8518	10	0.11485	T	0.65	-13.7531	17.8165	0.88635	0.0:0.0:1.0:0.0	.	229;229;229	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	F	229	ENSP00000308339:S229F;ENSP00000431727:S229F	ENSP00000308339:S229F	S	-	2	0	AL359075.1	176197449	1.000000	0.71417	0.985000	0.45067	0.640000	0.38277	4.685000	0.61693	2.731000	0.93534	0.650000	0.86243	TCT		0.512	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		33	171	0	0	0	1	0	33	171				
GFAP	2670	broad.mit.edu	37	17	42985496	42985496	+	Missense_Mutation	SNP	G	G	T	rs267607508		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42985496G>T	ENST00000253408.5	-	8	1258	c.1193C>A	c.(1192-1194)tCt>tAt	p.S398Y	GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	398	Tail.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.S398C(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCTGACACAGACTTGGTGTC	0.592																																						ENST00000253408.5																			1	Substitution - Missense(1)	p.S398C(1)	urinary_tract(1)	endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23	GRCh37	CM083521	GFAP	M		c.(1192-1194)tCt>tAt		glial fibrillary acidic protein							206.0	170.0	182.0					17																	42985496		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42985496G>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1193C>A	17.37:g.42985496G>T	ENSP00000253408:p.Ser398Tyr					GFAP_ENST00000588735.1_Intron	p.S398Y	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			8	1258	-		Prostate(33;0.0959)	398			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1193C>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715042	0.68844	.	.	ENSG00000131095	ENST00000253408;ENST00000421021	D	0.97811	-4.55	5.23	5.23	0.72850	.	0.742362	0.13157	N	0.409394	D	0.95856	0.8651	L	0.27053	0.805	0.80722	D	1	P	0.45672	0.864	P	0.44597	0.454	D	0.94770	0.7944	10	0.38643	T	0.18	.	18.9902	0.92788	0.0:0.0:1.0:0.0	.	398	P14136	GFAP_HUMAN	Y	398;373	ENSP00000253408:S398Y	ENSP00000253408:S398Y	S	-	2	0	GFAP	40341022	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	7.074000	0.76791	2.735000	0.93741	0.549000	0.68633	TCT		0.592	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		34	686	1	0	3.76114e-14	1	4.07806e-14	34	686				
FBXO34	55030	broad.mit.edu	37	14	55818571	55818571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818571G>A	ENST00000313833.4	+	2	1708	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	488										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGCCACCTGGTCAGCACTTG	0.468																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1462-1464)gGt>gAt		F-box protein 34							92.0	91.0	91.0					14																	55818571		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818571G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1463G>A	14.37:g.55818571G>A	ENSP00000313159:p.Gly488Asp					FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	p.G488D	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1708	+			488					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1463G>A	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495072	0.12762	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.17054	2.3;2.3	5.19	1.27	0.21489	.	0.678775	0.13082	N	0.415215	T	0.15998	0.0385	M	0.66939	2.045	0.09310	N	0.999995	B	0.17667	0.023	B	0.16722	0.016	T	0.31447	-0.9943	10	0.21014	T	0.42	-21.5041	5.5875	0.17283	0.2199:0.3356:0.4444:0.0	.	488	Q9NWN3	FBX34_HUMAN	D	488	ENSP00000313159:G488D;ENSP00000394117:G488D	ENSP00000313159:G488D	G	+	2	0	FBXO34	54888324	0.584000	0.26766	0.391000	0.26233	0.703000	0.40648	0.752000	0.26362	0.421000	0.25980	0.655000	0.94253	GGT		0.468	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			112	502	0	0	0	1	0	112	502				
PDXDC2P	283970	broad.mit.edu	37	16	70016263	70016263	+	RNA	SNP	C	C	T	rs139165288		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70016263C>T	ENST00000531894.1	-	0	2508				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										TGTTCTTTGGCGGTCTTCCTC	0.373													.|||	1	0.000199681	0.0	0.0	5008	,	,		20522	0.0		0.001	False		,,,				2504	0.0					ENST00000325845.7																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(439-441)Gcc>Acc																																								0							g.chr16:70016263C>T			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70016263C>T						RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.A179T|PDXDC2P_ENST00000531894.1_RNA	p.A147T							23	2508	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.439G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	3.078	-0.189651	0.06299	.	.	ENSG00000226232	ENST00000532298;ENST00000325845	T;T	0.51071	0.72;0.72	0.659	-0.583	0.11706	.	.	.	.	.	T	0.36936	0.0985	.	.	.	.	.	.	P	0.47962	0.903	B	0.42959	0.403	T	0.43475	-0.9389	6	0.52906	T	0.07	.	.	.	.	.	143	A8MZ50	NPIL4_HUMAN	T	179;147	ENSP00000448651:A179T;ENSP00000449128:A147T	ENSP00000449128:A147T	A	-	1	0	RP11-419C5.2	68573764	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.612000	0.05616	-0.153000	0.11137	-0.576000	0.04144	GCC		0.373	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			7	231	0	0	0	1	0	7	231				
CDH10	1008	broad.mit.edu	37	5	24488103	24488103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24488103G>A	ENST00000264463.4	-	12	2543	c.2036C>T	c.(2035-2037)gCa>gTa	p.A679V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	679					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCAATGGCTGCAGGATTCCT	0.483										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2035-2037)gCa>gTa		cadherin 10, type 2 (T2-cadherin)							60.0	64.0	63.0					5																	24488103		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488103G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2036C>T	5.37:g.24488103G>A	ENSP00000264463:p.Ala679Val	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.A679V	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2543	-			679					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2036C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713235	0.48517	.	.	ENSG00000040731	ENST00000264463	T	0.76186	-1.0	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.100384	0.64402	D	0.000002	T	0.57917	0.2086	N	0.04260	-0.245	0.46564	D	0.999106	P	0.34815	0.47	B	0.39027	0.288	T	0.64364	-0.6425	10	0.51188	T	0.08	.	13.9707	0.64237	0.0:0.1515:0.8485:0.0	.	679	Q9Y6N8	CAD10_HUMAN	V	679	ENSP00000264463:A679V	ENSP00000264463:A679V	A	-	2	0	CDH10	24523860	1.000000	0.71417	0.855000	0.33649	0.953000	0.61014	5.855000	0.69510	2.580000	0.87095	0.655000	0.94253	GCA		0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		56	354	0	0	0	1	0	56	354				
RPL36	25873	broad.mit.edu	37	19	5691599	5691599	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5691599C>T	ENST00000577222.1	+	6	829	c.285C>T	c.(283-285)gcC>gcT	p.A95A	RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000347512.3_Silent_p.A95A|RPL36_ENST00000579649.1_Silent_p.A95A|RPL36_ENST00000394580.2_Silent_p.A95A			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	95					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						ACGTACTGGCCGCCATGAGGA	0.637											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1																			0				breast(1)|upper_aerodigestive_tract(1)	2						c.(283-285)gcC>gcT		ribosomal protein L36							14.0	16.0	15.0					19																	5691599		2189	4273	6462	SO:0001819	synonymous_variant	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691599C>T		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.285C>T	19.37:g.5691599C>T			OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000394580.2_Silent_p.A95A|RPL36_ENST00000347512.3_Silent_p.A95A|RPL36_ENST00000579649.1_Silent_p.A95A	p.A95A			Q9Y3U8	RL36_HUMAN			6	829	+			95					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	ENST00000577222.1	37	c.285C>T	CCDS12147.1																																																																																				0.637	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		5	147	0	0	0	1	0	5	147				
NOL4	8715	broad.mit.edu	37	18	31523032	31523032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31523032C>T	ENST00000261592.5	-	9	1836	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	NOL4_ENST00000535475.1_Silent_p.Q294Q|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Silent_p.Q228Q|NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	513						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCAGTACCTGCTGTCTCTCCA	0.433																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1537-1539)caG>caA		nucleolar protein 4							105.0	93.0	97.0					18																	31523032		2203	4299	6502	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31523032C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1539G>A	18.37:g.31523032C>T						NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Silent_p.Q228Q|NOL4_ENST00000535475.1_Silent_p.Q294Q	p.Q513Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			9	1836	-			513					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1539G>A	CCDS11907.2																																																																																				0.433	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		73	310	0	0	0	1	0	73	310				
PKD1	5310	broad.mit.edu	37	16	2147772	2147772	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147772C>T	ENST00000262304.4	-	32	10385	c.10177G>A	c.(10177-10179)Gtt>Att	p.V3393I	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3393					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCTGTCCAACAAAGGCCTGC	0.587																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(10177-10179)Gtt>Att		polycystic kidney disease 1 (autosomal dominant)							91.0	101.0	97.0					16																	2147772		2198	4300	6498	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2147772C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10177G>A	16.37:g.2147772C>T	ENSP00000262304:p.Val3393Ile					PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I	p.V3393I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			32	10385	-			3393					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.10177G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	7.242	0.601532	0.13939	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34275	1.37;1.4	4.44	-1.98	0.07480	.	0.805808	0.11217	N	0.587105	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	P;B	0.35226	0.491;0.128	B;B	0.27076	0.076;0.05	T	0.16541	-1.0399	10	0.34782	T	0.22	.	6.1194	0.20144	0.5948:0.2285:0.0:0.1767	.	3392;3393	P98161-3;P98161	.;PKD1_HUMAN	I	3393;3392;2727	ENSP00000262304:V3393I;ENSP00000399501:V3392I	ENSP00000262304:V3393I	V	-	1	0	PKD1	2087773	0.134000	0.22483	0.047000	0.18901	0.004000	0.04260	0.088000	0.14979	-0.109000	0.12044	-0.300000	0.09419	GTT		0.587	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			176	811	0	0	0	1	0	176	811				
LAIR2	3904	broad.mit.edu	37	19	55019358	55019358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55019358G>A	ENST00000301202.2	+	3	445	c.323G>A	c.(322-324)gGa>gAa	p.G108E	LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	108	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		AAGCCCCCTGGATGGTCTGAG	0.547																																						ENST00000301202.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18						c.(322-324)gGa>gAa		leukocyte-associated immunoglobulin-like receptor 2							102.0	101.0	101.0					19																	55019358		2203	4300	6503	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55019358G>A	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.323G>A	19.37:g.55019358G>A	ENSP00000301202:p.Gly108Glu					LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	p.G108E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	445	+	Ovarian(34;0.19)		108			Ig-like C2-type.		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.323G>A	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.458951	0.01062	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.15139	2.45;2.61	3.77	-7.55	0.01327	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.257690	0.00166	N	0.000009	T	0.08088	0.0202	N	0.13272	0.32	0.09310	N	1	B;B	0.27068	0.167;0.125	B;B	0.31390	0.085;0.129	T	0.18935	-1.0321	9	.	.	.	.	1.3272	0.02128	0.1782:0.2237:0.1497:0.4485	.	108;108	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	E	108	ENSP00000301202:G108E;ENSP00000301203:G108E	.	G	+	2	0	LAIR2	59711170	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-5.739000	0.00101	-1.884000	0.01119	0.313000	0.20887	GGA		0.547	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			109	483	0	0	0	1	0	109	483				
EDN3	1908	broad.mit.edu	37	20	57896193	57896193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57896193G>A	ENST00000337938.2	+	3	873	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	EDN3_ENST00000395654.3_Missense_Mutation_p.G163R|EDN3_ENST00000371028.2_Missense_Mutation_p.G163R|EDN3_ENST00000371025.3_Missense_Mutation_p.G163R|EDN3_ENST00000311585.7_Missense_Mutation_p.G163R	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	163	Endothelin-like.				blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGCTTGTGTGGGGAGATATGA	0.552																																						ENST00000311585.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(487-489)Ggg>Agg		endothelin 3							122.0	113.0	116.0					20																	57896193		2203	4300	6503	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57896193G>A	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.487G>A	20.37:g.57896193G>A	ENSP00000337128:p.Gly163Arg					EDN3_ENST00000337938.2_Missense_Mutation_p.G163R|EDN3_ENST00000371028.2_Missense_Mutation_p.G163R|EDN3_ENST00000395654.3_Missense_Mutation_p.G163R|EDN3_ENST00000371025.3_Missense_Mutation_p.G163R	p.G163R	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN			3	857	+	all_lung(29;0.0115)		163			Endothelin-like.		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.487G>A	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001224	0.19121	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86865	-2.05;-2.05;-2.05;-2.18;-2.18	4.75	2.71	0.32032	Endothelin-like toxin, conserved site (1);Endothelin-like toxin (1);	0.869368	0.10054	N	0.721777	T	0.80412	0.4618	L	0.39898	1.24	0.09310	N	1	B;B;B;P	0.37612	0.2;0.126;0.034;0.602	B;B;B;B	0.34489	0.049;0.035;0.022;0.184	T	0.62282	-0.6887	10	0.19147	T	0.46	-11.8105	11.4336	0.50056	0.0:0.3801:0.6199:0.0	.	163;163;163;163	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	R	163	ENSP00000337128:G163R;ENSP00000311854:G163R;ENSP00000360067:G163R;ENSP00000360064:G163R;ENSP00000379015:G163R	ENSP00000311854:G163R	G	+	1	0	EDN3	57329588	0.047000	0.20315	0.001000	0.08648	0.040000	0.13550	1.507000	0.35758	0.488000	0.27723	0.555000	0.69702	GGG		0.552	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		19	571	0	0	0	1	0	19	571				
TRIM52	84851	broad.mit.edu	37	5	180687720	180687720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180687720G>A	ENST00000327767.4	-	1	399	c.95C>T	c.(94-96)tCc>tTc	p.S32F	TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000433265.3_RNA|TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	32					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ACAGCTGATGGACACGGGGTC	0.562																																						ENST00000327767.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(94-96)tCc>tTc		tripartite motif containing 52							66.0	56.0	60.0					5																	180687720		2203	4300	6503	SO:0001583	missense	84851					intracellular	zinc ion binding	g.chr5:180687720G>A		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.95C>T	5.37:g.180687720G>A	ENSP00000332152:p.Ser32Phe					TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA	p.S32F	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	399	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	32						Missense_Mutation	SNP	ENST00000327767.4	37	c.95C>T	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.014596	0.54468	.	.	ENSG00000183718	ENST00000327767	D	0.95238	-3.65	3.72	3.72	0.42706	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.96670	0.8913	M	0.77486	2.375	0.47123	D	0.999328	D	0.89917	1.0	D	0.75484	0.986	D	0.96451	0.9334	8	.	.	.	.	13.7957	0.63168	0.0:0.0:1.0:0.0	.	32	Q96A61	TRI52_HUMAN	F	32	ENSP00000332152:S32F	.	S	-	2	0	TRIM52	180620326	0.093000	0.21703	0.112000	0.21494	0.279000	0.26890	1.476000	0.35420	2.041000	0.60428	0.511000	0.50034	TCC		0.562	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		48	220	0	0	0	1	0	48	220				
ROBO3	64221	broad.mit.edu	37	11	124742334	124742334	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742334A>C	ENST00000397801.1	+	8	1408	c.1216A>C	c.(1216-1218)Aga>Cga	p.R406R	ROBO3_ENST00000538940.1_Silent_p.R384R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	406	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTGTCTCCAAGAGGCCAACT	0.612																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1216-1218)Aga>Cga		roundabout, axon guidance receptor, homolog 3 (Drosophila)							74.0	75.0	75.0					11																	124742334		2065	4214	6279	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742334A>C	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1216A>C	11.37:g.124742334A>C						ROBO3_ENST00000538940.1_Silent_p.R384R	p.R406R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	8	1408	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	406			Ig-like C2-type 4.			Silent	SNP	ENST00000397801.1	37	c.1216A>C	CCDS44755.1																																																																																				0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		76	257	0	0	0	1	0	76	257				
HK1	3098	broad.mit.edu	37	10	71119777	71119777	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71119777C>T	ENST00000359426.6	+	3	455	c.351C>T	c.(349-351)aaC>aaT	p.N117N	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.N116N|HK1_ENST00000360289.2_Silent_p.N105N|HK1_ENST00000448642.2_Silent_p.N152N|HK1_ENST00000404387.2_Silent_p.N121N	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	117	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCCCAGAGAACATCGTGCACG	0.562																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(454-456)aaC>aaT		hexokinase 1							107.0	100.0	102.0					10																	71119777		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71119777C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.351C>T	10.37:g.71119777C>T						HK1_ENST00000298649.3_Silent_p.N116N|HK1_ENST00000359426.6_Silent_p.N117N|HK1_ENST00000404387.2_Silent_p.N121N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Silent_p.N105N	p.N152N			P19367	HXK1_HUMAN			8	845	+			117			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.456C>T	CCDS7292.1																																																																																				0.562	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		56	331	0	0	0	1	0	56	331				
ITGA1	3672	broad.mit.edu	37	5	52160617	52160617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52160617G>A	ENST00000282588.6	+	4	774	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	106					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTCCCAATGTCACAGAAGT	0.318																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(316-318)Gtc>Atc		integrin, alpha 1							74.0	76.0	76.0					5																	52160617		2203	4298	6501	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52160617G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.316G>A	5.37:g.52160617G>A	ENSP00000282588:p.Val106Ile						p.V106I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			4	774	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	106					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.316G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474008	0.43942	.	.	ENSG00000213949	ENST00000282588	T	0.71341	-0.56	5.62	5.62	0.85841	.	0.132263	0.53938	D	0.000056	T	0.53417	0.1795	N	0.13235	0.315	0.40578	D	0.981368	P	0.36282	0.546	B	0.35312	0.2	T	0.56408	-0.7984	10	0.33940	T	0.23	.	13.273	0.60172	0.0726:0.0:0.9274:0.0	.	106	P56199	ITA1_HUMAN	I	106	ENSP00000282588:V106I	ENSP00000282588:V106I	V	+	1	0	ITGA1	52196374	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.087000	0.50167	2.810000	0.96702	0.585000	0.79938	GTC		0.318	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		40	174	0	0	0	1	0	40	174				
FAF2	23197	broad.mit.edu	37	5	175921013	175921013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175921013C>A	ENST00000261942.6	+	6	550	c.497C>A	c.(496-498)gCc>gAc	p.A166D		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	166					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTTAACGATGCCAAAAGGGAG	0.403																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(496-498)gCc>gAc		Fas associated factor family member 2							146.0	138.0	141.0					5																	175921013		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175921013C>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.497C>A	5.37:g.175921013C>A	ENSP00000261942:p.Ala166Asp						p.A166D	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			6	550	+			166					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.497C>A	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043875	0.93685	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	T	0.71934	-0.61	5.5	5.5	0.81552	UAS (1);	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89066	0.3466	10	0.87932	D	0	-13.0592	19.7671	0.96349	0.0:1.0:0.0:0.0	.	166	Q96CS3	FAF2_HUMAN	D	166	ENSP00000261942:A166D	ENSP00000261942:A166D	A	+	2	0	FAF2	175853619	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.414000	0.80117	2.751000	0.94390	0.650000	0.86243	GCC		0.403	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		160	366	1	0	2.95651e-86	1	3.79019e-86	160	366				
GOLIM4	27333	broad.mit.edu	37	3	167747014	167747014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167747014C>A	ENST00000470487.1	-	11	2199	c.1510G>T	c.(1510-1512)Gga>Tga	p.G504*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.G476*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	504	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCACCACCTCCTTCCTCTCCT	0.373																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1510-1512)Gga>Tga		golgi integral membrane protein 4							125.0	108.0	114.0					3																	167747014		2203	4300	6503	SO:0001587	stop_gained	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747014C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1510G>T	3.37:g.167747014C>A	ENSP00000417354:p.Gly504*					GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.G476*	p.G504*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			11	2199	-			504			Gln-rich.|Glu-rich.			Nonsense_Mutation	SNP	ENST00000470487.1	37	c.1510G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	45	11.814472	0.99605	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	.	0.253136	0.39615	N	0.001302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.2927	0.90136	0.0:1.0:0.0:0.0	.	.	.	.	X	504;476	.	ENSP00000309893:G476X	G	-	1	0	GOLIM4	169229708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.734000	0.68580	2.325000	0.78763	0.549000	0.68633	GGA		0.373	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			65	232	1	0	3.94896e-32	1	4.66014e-32	65	232				
FAM53C	51307	broad.mit.edu	37	5	137681012	137681012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681012G>A	ENST00000239906.5	+	4	1063	c.635G>A	c.(634-636)aGt>aAt	p.S212N	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	212										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCTCAAAGTGGCTCCTGG	0.627																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(634-636)aGt>aAt		family with sequence similarity 53, member C							139.0	157.0	151.0					5																	137681012		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681012G>A	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.635G>A	5.37:g.137681012G>A	ENSP00000239906:p.Ser212Asn					FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N	p.S212N	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1063	+			212					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.635G>A	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185991	0.78789	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.47177	0.85;0.85	5.55	4.68	0.58851	.	0.257713	0.45126	N	0.000392	T	0.65698	0.2716	M	0.72353	2.195	0.80722	D	1	D	0.54772	0.968	D	0.70487	0.969	T	0.66893	-0.5808	9	.	.	.	-1.3068	13.3265	0.60463	0.0768:0.0:0.9232:0.0	.	212	Q9NYF3	FA53C_HUMAN	N	212	ENSP00000403705:S212N;ENSP00000239906:S212N	.	S	+	2	0	FAM53C	137708911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.416000	0.44644	1.575000	0.49775	0.655000	0.94253	AGT		0.627	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		253	1236	0	0	0	1	0	253	1236				
RBCK1	10616	broad.mit.edu	37	20	400247	400247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:400247C>T	ENST00000356286.5	+	6	1333	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W|RBCK1_ENST00000382181.2_Silent_p.R93R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	210	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAAGCCCACGCGGCCTGGCTG	0.721																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(628-630)Cgg>Tgg		RanBP-type and C3HC4-type zinc finger containing 1							18.0	18.0	18.0					20																	400247		2196	4292	6488	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:400247C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.628C>T	20.37:g.400247C>T	ENSP00000348632:p.Arg210Trp					RBCK1_ENST00000382181.2_Silent_p.R93R|RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W	p.R210W	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			6	1333	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	210			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.628C>T	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485723	0.63962	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000400244;ENST00000400243	T;T	0.45276	0.9;0.9	4.73	-1.35	0.09114	Zinc finger, RanBP2-type (3);	0.131807	0.50627	D	0.000105	T	0.46405	0.1391	M	0.72353	2.195	0.80722	D	1	D;P;B	0.56035	0.974;0.812;0.322	P;B;B	0.47015	0.534;0.19;0.037	T	0.58451	-0.7634	10	0.87932	D	0	-17.207	15.1642	0.72807	0.7534:0.2466:0.0:0.0	.	200;168;210	B4E0F5;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	W	210;168;210;251	ENSP00000348632:R210W;ENSP00000254960:R168W	ENSP00000254960:R168W	R	+	1	2	RBCK1	348247	0.162000	0.22906	0.350000	0.25708	0.966000	0.64601	0.739000	0.26173	-0.431000	0.07307	-0.521000	0.04368	CGG		0.721	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		20	54	0	0	0	1	0	20	54				
C2orf48	348738	broad.mit.edu	37	2	10350578	10350578	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10350578T>C	ENST00000381786.3	+	4	624	c.335T>C	c.(334-336)tTc>tCc	p.F112S		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	112										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CGACCCTGTTTCAGAATGAAG	0.572																																						ENST00000381786.3																			0				endometrium(1)|lung(7)	8						c.(334-336)tTc>tCc		chromosome 2 open reading frame 48							51.0	55.0	54.0					2																	10350578		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350578T>C	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.335T>C	2.37:g.10350578T>C	ENSP00000371205:p.Phe112Ser						p.F112S	NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	624	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		112						Missense_Mutation	SNP	ENST00000381786.3	37	c.335T>C	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	T	7.417	0.635880	0.14386	.	.	ENSG00000163009	ENST00000381786	T	0.46451	0.87	1.51	-0.013	0.13986	.	.	.	.	.	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.13656	-1.0501	9	0.87932	D	0	.	3.5676	0.07905	0.5114:0.0:0.0:0.4886	.	112	Q96LS8	CB048_HUMAN	S	112	ENSP00000371205:F112S	ENSP00000371205:F112S	F	+	2	0	C2orf48	10268029	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.390000	0.07332	-0.033000	0.13736	0.448000	0.29417	TTC		0.572	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		95	379	0	0	0	1	0	95	379				
WDR19	57728	broad.mit.edu	37	4	39191347	39191347	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39191347T>G	ENST00000399820.3	+	4	390	c.236T>G	c.(235-237)aTt>aGt	p.I79S	WDR19_ENST00000506503.1_Missense_Mutation_p.I79S|WDR19_ENST00000288634.7_De_novo_Start_OutOfFrame	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	79					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TCTAGCTGCATTTATCTTTGG	0.358																																						ENST00000288634.7																			0				large_intestine(1)	1								WD repeat domain 19							111.0	110.0	110.0					4																	39191347		1850	4117	5967	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39191347T>G	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.236T>G	4.37:g.39191347T>G	ENSP00000382717:p.Ile79Ser					WDR19_ENST00000506503.1_Missense_Mutation_p.I79S|WDR19_ENST00000399820.3_Missense_Mutation_p.I79S				Q8NEZ3	WDR19_HUMAN			0	265	+								B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Translation_Start_Site	SNP	ENST00000399820.3	37		CCDS47042.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564276	0.86335	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	T;T;T	0.38560	3.0;1.13;3.0	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043861	0.85682	D	0.000000	T	0.67468	0.2896	M	0.85542	2.76	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64042	0.913;0.921	T	0.73335	-0.4015	10	0.87932	D	0	-21.0613	16.3939	0.83550	0.0:0.0:0.0:1.0	.	79;79	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	S	79;20;79;78	ENSP00000382717:I79S;ENSP00000426918:I20S;ENSP00000423491:I79S	ENSP00000382717:I79S	I	+	2	0	WDR19	38867742	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.670000	0.83925	2.276000	0.75962	0.455000	0.32223	ATT		0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			40	203	0	0	0	1	0	40	203				
RAB4B	53916	broad.mit.edu	37	19	41289706	41289706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41289706G>A	ENST00000594800.1	+	4	396	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	RAB4B_ENST00000602069.1_Intron|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.R79Q|RAB4B-EGLN2_ENST00000601949.1_Intron|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.R79Q			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	79					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGTTATTACCGAGGGGCGGCT	0.667																																						ENST00000594136.1																			0											c.(235-237)cGa>cAa									20.0	23.0	22.0					19																	41289706		2203	4300	6503	SO:0001583	missense	0							g.chr19:41289706G>A	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.236G>A	19.37:g.41289706G>A	ENSP00000470246:p.Arg79Gln					RAB4B_ENST00000357052.2_Missense_Mutation_p.R79Q|RAB4B_ENST00000594800.1_Missense_Mutation_p.R79Q|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_Intron|MIA-RAB4B_ENST00000600729.1_3'UTR	p.R79Q							4	341	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.236G>A	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380825	0.95945	.	.	ENSG00000167578	ENST00000357052;ENST00000378307	D;D	0.81821	-1.54;-1.54	4.79	4.79	0.61399	Small GTP-binding protein domain (1);	0.071260	0.53938	D	0.000059	D	0.91818	0.7411	M	0.93594	3.435	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.66847	0.897;0.947	D	0.94142	0.7398	10	0.87932	D	0	.	16.5844	0.84724	0.0:0.0:1.0:0.0	.	114;79	P61018-2;P61018	.;RAB4B_HUMAN	Q	79	ENSP00000349560:R79Q;ENSP00000367557:R79Q	ENSP00000349560:R79Q	R	+	2	0	RAB4B	45981546	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.388000	0.97237	2.195000	0.70347	0.436000	0.28706	CGA		0.667	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		37	160	0	0	0	1	0	37	160				
SUSD2	56241	broad.mit.edu	37	22	24583271	24583271	+	Missense_Mutation	SNP	G	G	A	rs116324909	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583271G>A	ENST00000358321.3	+	11	2005	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	582	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGTGTGTCCGTCCTGCTGCC	0.657													G|||	12	0.00239617	0.0091	0.0	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.0					ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1744-1746)Gtc>Atc		sushi domain containing 2		G	ILE/VAL	14,4392	20.2+/-43.8	0,14,2189	174.0	135.0	148.0		1744	1.1	0.1	22	dbSNP_132	148	0,8600		0,0,4300	yes	missense	SUSD2	NM_019601.3	29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	possibly-damaging	582/823	24583271	14,12992	2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24583271G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1744G>A	22.37:g.24583271G>A	ENSP00000351075:p.Val582Ile						p.V582I	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			11	2005	+			582			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1744G>A	CCDS13824.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.542	1.113576	0.20795	0.003177	0.0	ENSG00000099994	ENST00000358321	T	0.60797	0.16	4.49	1.1	0.20463	von Willebrand factor, type D domain (3);	0.124624	0.53938	N	0.000055	T	0.36166	0.0957	L	0.53617	1.68	0.33002	D	0.526427	B	0.28470	0.213	B	0.23018	0.043	T	0.41680	-0.9495	10	0.26408	T	0.33	-35.7097	7.3624	0.26754	0.3256:0.0:0.6744:0.0	.	582	Q9UGT4	SUSD2_HUMAN	I	582	ENSP00000351075:V582I	ENSP00000351075:V582I	V	+	1	0	SUSD2	22913271	0.988000	0.35896	0.139000	0.22197	0.023000	0.10783	1.336000	0.33850	0.071000	0.16664	0.549000	0.68633	GTC		0.657	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		11	258	0	0	0	1	0	11	258				
A1CF	29974	broad.mit.edu	37	10	52595869	52595869	+	Missense_Mutation	SNP	C	C	T	rs200365066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595869C>T	ENST00000373993.1	-	4	613	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	A1CF_ENST00000282641.2_Missense_Mutation_p.R190Q|A1CF_ENST00000373997.3_Missense_Mutation_p.R190Q|A1CF_ENST00000374001.2_Missense_Mutation_p.R190Q|A1CF_ENST00000395489.2_Missense_Mutation_p.R183Q|A1CF_ENST00000395495.1_Missense_Mutation_p.R190Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R198Q			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	190	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGCAGCTGCTCGATGACTCTC	0.498																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(547-549)cGa>cAa		APOBEC1 complementation factor							110.0	101.0	104.0					10																	52595869		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595869C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.569G>A	10.37:g.52595869C>T	ENSP00000363105:p.Arg190Gln					A1CF_ENST00000282641.2_Missense_Mutation_p.R190Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R198Q|A1CF_ENST00000373993.1_Missense_Mutation_p.R190Q|A1CF_ENST00000374001.1_Missense_Mutation_p.R190Q|A1CF_ENST00000395495.1_Missense_Mutation_p.R190Q|A1CF_ENST00000373997.3_Missense_Mutation_p.R190Q	p.R183Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	944	-			190			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.548G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291523	0.80914	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.43598	1.365	0.80722	D	1	P;P;D;B	0.58620	0.787;0.666;0.983;0.439	B;B;P;B	0.52424	0.197;0.298;0.698;0.07	T	0.00076	-1.2119	10	0.52906	T	0.07	-6.6783	18.0887	0.89466	0.0:1.0:0.0:0.0	.	183;190;190;198	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	Q	190;190;190;198;190;190;173;183;190	ENSP00000363113:R190Q;ENSP00000363105:R190Q;ENSP00000363109:R190Q;ENSP00000363107:R198Q;ENSP00000282641:R190Q;ENSP00000378873:R190Q;ENSP00000378868:R183Q;ENSP00000397953:R190Q	ENSP00000282641:R190Q	R	-	2	0	A1CF	52265875	1.000000	0.71417	0.049000	0.19019	0.287000	0.27160	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	CGA		0.498	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		34	468	0	0	0	1	0	34	468				
ZNF598	90850	broad.mit.edu	37	16	2048485	2048485	+	Silent	SNP	C	C	T	rs557029560		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048485C>T	ENST00000563630.1	-	12	2540	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.T821T|ZNF598_ENST00000562103.1_Silent_p.T766T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	821							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTGCTTGGCCGTGTCGGGCA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16755	0.0		0.0	False		,,,				2504	0.001					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(2296-2298)acG>acA		zinc finger protein 598							28.0	32.0	31.0					16																	2048485		1905	4128	6033	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2048485C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2298G>A	16.37:g.2048485C>T						ZNF598_ENST00000562103.1_Silent_p.T766T|ZNF598_ENST00000431526.1_Silent_p.T821T	p.T766T			Q86UK7	ZN598_HUMAN			12	2540	-			821					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.2298G>A																																																																																					0.582	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		65	230	0	0	0	1	0	65	230				
PIK3R2	5296	broad.mit.edu	37	19	18273018	18273018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18273018C>T	ENST00000593731.1	+	8	1468	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.P303L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	303					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CCAGCGCTGCCGCCTAAACCC	0.617																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(907-909)cCg>cTg		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							24.0	24.0	24.0					19																	18273018		2201	4297	6498	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18273018C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.908C>T	19.37:g.18273018C>T	ENSP00000471914:p.Pro303Leu					PIK3R2_ENST00000222254.7_Missense_Mutation_p.P303L	p.P303L			O00459	P85B_HUMAN			8	1468	+			303					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.908C>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437493	0.83885	.	.	ENSG00000105647	ENST00000222254	T	0.52057	0.68	4.16	4.16	0.48862	.	0.114304	0.64402	D	0.000010	T	0.70002	0.3174	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76402	-0.2972	10	0.87932	D	0	-12.1593	15.8108	0.78561	0.0:1.0:0.0:0.0	.	303	O00459	P85B_HUMAN	L	303	ENSP00000222254:P303L	ENSP00000222254:P303L	P	+	2	0	PIK3R2	18134018	1.000000	0.71417	0.933000	0.37362	0.752000	0.42762	7.627000	0.83176	2.054000	0.61138	0.491000	0.48974	CCG		0.617	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		17	116	0	0	0	1	0	17	116				
DECR1	1666	broad.mit.edu	37	8	91033242	91033242	+	Missense_Mutation	SNP	G	G	A	rs372630127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91033242G>A	ENST00000220764.2	+	5	611	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Missense_Mutation_p.V166M	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	175					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CACAGCCTTCGTGACACTAGA	0.363																																						ENST00000522161.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(496-498)Gtg>Atg		2,4-dienoyl CoA reductase 1, mitochondrial		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	78.0	77.0	77.0		523	3.8	1.0	8		77	0,8598		0,0,4299	no	missense	DECR1	NM_001359.1	21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	175/336	91033242	1,13003	2203	4299	6502	SO:0001583	missense	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91033242G>A	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.523G>A	8.37:g.91033242G>A	ENSP00000220764:p.Val175Met					DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Missense_Mutation_p.V175M	p.V166M			Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		7	1179	+			175					B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	c.496G>A	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304840	0.40795	2.27E-4	0.0	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.87650	0.96;-2.28;0.96;-2.28;-2.28	5.59	3.83	0.44106	NAD(P)-binding domain (1);	0.055756	0.64402	N	0.000001	D	0.87549	0.6205	L	0.49455	1.56	0.80722	D	1	D;P	0.58620	0.983;0.697	P;B	0.53313	0.723;0.179	D	0.85099	0.0956	10	0.35671	T	0.21	.	12.5811	0.56391	0.135:0.0:0.865:0.0	.	166;175	B7Z6B8;Q16698	.;DECR_HUMAN	M	175;153;166;166;125	ENSP00000220764:V175M;ENSP00000430561:V153M;ENSP00000429779:V166M;ENSP00000427936:V166M;ENSP00000429096:V125M	ENSP00000220764:V175M	V	+	1	0	DECR1	91102418	1.000000	0.71417	0.997000	0.53966	0.235000	0.25334	4.127000	0.57944	0.748000	0.32831	-1.020000	0.02445	GTG		0.363	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			59	216	0	0	0	1	0	59	216				
KIAA0408	9729	broad.mit.edu	37	6	127765336	127765336	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127765336C>A	ENST00000483725.3	-	6	2339	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	668										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGATGGAGATCTGGATGCCCA	0.517																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(2002-2004)aGa>aTa		KIAA0408							131.0	106.0	115.0					6																	127765336		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127765336C>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.2003G>T	6.37:g.127765336C>A	ENSP00000435150:p.Arg668Ile					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.R668I	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	6	2339	-			668					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.2003G>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999775	0.93227	.	.	ENSG00000189367	ENST00000483725	T	0.22336	1.96	6.07	6.07	0.98685	.	0.000000	0.39341	U	0.001396	T	0.41213	0.1149	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13791	-1.0496	10	0.87932	D	0	-8.9135	20.6525	0.99598	0.0:1.0:0.0:0.0	.	668;551	Q6ZU52;Q6ZU52-2	K0408_HUMAN;.	I	668	ENSP00000435150:R668I	ENSP00000435150:R668I	R	-	2	0	KIAA0408	127807029	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	6.269000	0.72558	2.890000	0.99128	0.585000	0.79938	AGA		0.517	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		47	183	1	0	2.46787e-29	1	2.8822e-29	47	183				
CDC7	8317	broad.mit.edu	37	1	91967338	91967338	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91967338T>C	ENST00000428239.1	+	2	324	c.65T>C	c.(64-66)tTt>tCt	p.F22S	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.F22S|CDC7_ENST00000430031.2_Missense_Mutation_p.F22S	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	22					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CGTGACCGGTTTCAGGCTGAA	0.428																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(64-66)tTt>tCt		cell division cycle 7							119.0	127.0	124.0					1																	91967338		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967338T>C	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.65T>C	1.37:g.91967338T>C	ENSP00000393139:p.Phe22Ser					CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Missense_Mutation_p.F22S|CDC7_ENST00000234626.6_Missense_Mutation_p.F22S	p.F22S	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	324	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	22					D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.65T>C	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	7.648	0.682364	0.14907	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.49432	0.78;1.01;1.01;2.02	5.42	1.72	0.24424	.	1.624430	0.02734	N	0.115407	T	0.07413	0.0187	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.10405	-1.0631	10	0.22109	T	0.4	-3.2262	2.6492	0.04994	0.1226:0.1499:0.1202:0.6073	.	22;22	B7Z5H7;O00311	.;CDC7_HUMAN	S	22	ENSP00000407477:F22S;ENSP00000234626:F22S;ENSP00000393139:F22S;ENSP00000398077:F22S	ENSP00000234626:F22S	F	+	2	0	CDC7	91739926	0.001000	0.12720	0.151000	0.22473	0.612000	0.37316	0.256000	0.18351	-0.131000	0.11578	-1.431000	0.01090	TTT		0.428	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		73	560	0	0	0	1	0	73	560				
ZNF776	284309	broad.mit.edu	37	19	58262226	58262226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58262226G>A	ENST00000317178.5	+	2	370	c.107G>A	c.(106-108)aGa>aAa	p.R36K	AC003006.7_ENST00000594684.1_Missense_Mutation_p.R36K|ZNF776_ENST00000431353.1_Missense_Mutation_p.R36K	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GAGGCTCAGAGATGCCTTTAT	0.473																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(106-108)aGa>aAa		zinc finger protein 776							286.0	220.0	242.0					19																	58262226		2203	4300	6503	SO:0001583	missense	284309							g.chr19:58262226G>A	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.107G>A	19.37:g.58262226G>A	ENSP00000321812:p.Arg36Lys					ZNF776_ENST00000431353.1_Missense_Mutation_p.R36K	p.R36K	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	2	370	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.107G>A	CCDS12962.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.616021|2.616021	0.46631|0.46631	.|.	.|.	ENSG00000152443|ENSG00000152443	ENST00000451849|ENST00000317178;ENST00000431353	.|T;T	.|0.01685	.|4.69;4.69	1.5|1.5	1.5|1.5	0.22942|0.22942	.|Krueppel-associated box (4);	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	L|L	0.37561|0.37561	1.115|1.115	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.994	T|T	0.49263|0.49263	-0.8958|-0.8958	5|9	.|0.30854	.|T	.|0.27	.|.	6.4096|6.4096	0.21684|0.21684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|36;36	.|Q68DI1;B4DSC6	.|ZN776_HUMAN;.	N|K	19|36	.|ENSP00000321812:R36K;ENSP00000405772:R36K	.|ENSP00000321812:R36K	D|R	+|+	1|2	0|0	ZNF776|ZNF776	62954038|62954038	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.910000|0.910000	0.53928|0.53928	-0.429000|-0.429000	0.06982|0.06982	1.151000|1.151000	0.42436|0.42436	0.313000|0.313000	0.20887|0.20887	GAT|AGA		0.473	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		71	375	0	0	0	1	0	71	375				
TMEM150A	129303	broad.mit.edu	37	2	85826704	85826704	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85826704G>T	ENST00000409668.1	-	6	985	c.518C>A	c.(517-519)gCt>gAt	p.A173D	TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D|TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D			Q86TG1	T150A_HUMAN	transmembrane protein 150A	173					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						ATAGGCCACAGCCAGGTCCAG	0.612																																						ENST00000409668.1																			0				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						c.(517-519)gCt>gAt		transmembrane protein 150A							74.0	73.0	74.0					2																	85826704		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85826704G>T	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.518C>A	2.37:g.85826704G>T	ENSP00000387292:p.Ala173Asp					TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D|TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D	p.A173D			Q86TG1	T150A_HUMAN			6	985	-			173					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.518C>A	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784993	0.31593	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668	T;T;T	0.44083	0.93;0.93;0.93	5.23	4.35	0.52113	.	0.105109	0.64402	D	0.000002	T	0.32285	0.0824	L	0.47716	1.5	0.26903	N	0.967064	P;B	0.39404	0.672;0.154	B;B	0.35073	0.195;0.124	T	0.13072	-1.0523	10	0.18710	T	0.47	-31.071	11.5548	0.50741	0.0878:0.0:0.9122:0.0	.	120;173	Q86TG1-2;Q86TG1	.;T150A_HUMAN	D	120;173;173	ENSP00000302715:A120D;ENSP00000334708:A173D;ENSP00000387292:A173D	ENSP00000302715:A120D	A	-	2	0	TMEM150A	85680215	0.923000	0.31300	0.960000	0.40013	0.986000	0.74619	1.599000	0.36751	1.200000	0.43188	0.561000	0.74099	GCT		0.612	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		110	315	1	0	6.2294e-58	1	7.80558e-58	110	315				
HDLBP	3069	broad.mit.edu	37	2	242173318	242173318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242173318C>T	ENST00000391975.1	-	24	3432	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1069	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.G1069W(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCTTTCTCCCGATAATCTTG	0.473																																						ENST00000391975.1																			1	Substitution - Missense(1)	p.G1069W(1)	lung(1)	breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3205-3207)Ggg>Agg		high density lipoprotein binding protein							171.0	155.0	161.0					2																	242173318		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242173318C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3205G>A	2.37:g.242173318C>T	ENSP00000375836:p.Gly1069Arg					HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R|HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R	p.G1069R	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	24	3432	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1069			KH 13.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.3205G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902790|3.902790	0.72754|0.72754	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41|.	5.56|5.56	5.56|5.56	0.83823|0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87233|0.87233	0.6126|0.6126	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90091|0.90091	0.4177|0.4177	10|5	0.87932|.	D|.	0|.	-32.9522|-32.9522	19.5308|19.5308	0.95228|0.95228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;1069|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|Q	1069;1069;1069;1036|877	ENSP00000375836:G1069R;ENSP00000375837:G1069R;ENSP00000312042:G1069R;ENSP00000399139:G1036R|.	ENSP00000312042:G1069R|.	G|R	-|-	1|2	0|0	HDLBP|HDLBP	241821991|241821991	1.000000|1.000000	0.71417|0.71417	0.140000|0.140000	0.22221|0.22221	0.229000|0.229000	0.25112|0.25112	7.721000|7.721000	0.84768|0.84768	2.630000|2.630000	0.89119|0.89119	0.563000|0.563000	0.77884|0.77884	GGG|CGG		0.473	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		13	469	0	0	0	1	0	13	469				
ATP9A	10079	broad.mit.edu	37	20	50235228	50235228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50235228G>A	ENST00000338821.5	-	21	2587	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C	ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C|ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	775					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGCCCGTGCGCTCCTGAAGC	0.642																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2323-2325)Cgc>Tgc		ATPase, class II, type 9A							43.0	45.0	44.0					20																	50235228		2203	4299	6502	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50235228G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2323C>T	20.37:g.50235228G>A	ENSP00000342481:p.Arg775Cys					ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C	p.R775C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			21	2587	-			775					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2323C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105149	0.77096	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.82433	-1.61;-1.61;-1.61	5.35	5.35	0.76521	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	L	0.56396	1.775	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61658	0.738;0.892	D	0.88117	0.2829	10	0.72032	D	0.01	-33.5724	12.251	0.54597	0.0:0.0:0.7122:0.2878	.	654;775	O75110-2;O75110	.;ATP9A_HUMAN	C	639;775;654	ENSP00000309086:R639C;ENSP00000342481:R775C;ENSP00000385875:R654C	ENSP00000309086:R639C	R	-	1	0	ATP9A	49668635	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.258000	0.51507	2.493000	0.84123	0.655000	0.94253	CGC		0.642	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		81	332	0	0	0	1	0	81	332				
TRAPPC8	22878	broad.mit.edu	37	18	29429662	29429662	+	Missense_Mutation	SNP	C	C	T	rs78689148	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29429662C>T	ENST00000283351.4	-	25	3937	c.3602G>A	c.(3601-3603)cGa>cAa	p.R1201Q	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R1147Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1201					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATAAACTTCGATAAAAGAA	0.328													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14870	0.0		0.0	False		,,,				2504	0.0					ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3601-3603)cGa>cAa		trafficking protein particle complex 8		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	74.0	72.0	73.0		3602	5.9	1.0	18	dbSNP_131	73	0,8598		0,0,4299	yes	missense	TRAPPC8	NM_014939.3	43	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	benign	1201/1436	29429662	2,13002	2203	4299	6502	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29429662C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3602G>A	18.37:g.29429662C>T	ENSP00000283351:p.Arg1201Gln					TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R1147Q	p.R1201Q	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			25	3937	-			1201					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3602G>A	CCDS11901.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.82	2.649391	0.47362	4.54E-4	0.0	ENSG00000153339	ENST00000283351	T	0.10382	2.88	5.86	5.86	0.93980	.	0.193458	0.46442	D	0.000284	T	0.07593	0.0191	N	0.25426	0.745	0.80722	D	1	B	0.25169	0.119	B	0.15484	0.013	T	0.34750	-0.9816	10	0.23891	T	0.37	.	10.2431	0.43324	0.0:0.8495:0.0:0.1505	.	1201	Q9Y2L5	TPPC8_HUMAN	Q	1201	ENSP00000283351:R1201Q	ENSP00000283351:R1201Q	R	-	2	0	TRAPPC8	27683660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.731000	0.47343	2.776000	0.95493	0.655000	0.94253	CGA		0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		55	244	0	0	0	1	0	55	244				
TGFB1	7040	broad.mit.edu	37	19	41854288	41854288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41854288G>A	ENST00000221930.5	-	2	1294	c.428C>T	c.(427-429)gCg>gTg	p.A143V	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	143	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTCAGGTACCGCTTCTCGGAG	0.507																																						ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(427-429)gCg>gTg		transforming growth factor, beta 1	Hyaluronidase(DB00070)						133.0	125.0	128.0					19																	41854288		2203	4300	6503	SO:0001583	missense	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41854288G>A	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.428C>T	19.37:g.41854288G>A	ENSP00000221930:p.Ala143Val						p.A143V	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			2	1294	-			143					A8K792|Q9UCG4	Missense_Mutation	SNP	ENST00000221930.5	37	c.428C>T	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608131	0.28623	.	.	ENSG00000105329	ENST00000221930	T	0.72394	-0.65	4.84	4.84	0.62591	Transforming growth factor-beta, N-terminal (1);	0.165870	0.53938	D	0.000058	T	0.50820	0.1638	L	0.41710	1.295	0.39365	D	0.965985	D	0.53151	0.958	B	0.27796	0.083	T	0.56691	-0.7937	10	0.15952	T	0.53	-15.2657	13.313	0.60390	0.0:0.0:1.0:0.0	.	143	P01137	TGFB1_HUMAN	V	143	ENSP00000221930:A143V	ENSP00000221930:A143V	A	-	2	0	TGFB1	46546128	0.929000	0.31497	0.953000	0.39169	0.286000	0.27126	1.795000	0.38784	2.513000	0.84729	0.455000	0.32223	GCG		0.507	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			159	629	0	0	0	1	0	159	629				
BAZ2B	29994	broad.mit.edu	37	2	160289445	160289445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160289445C>T	ENST00000392783.2	-	9	2218	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTGTTTTTACTGGGTTTACA	0.428																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1723-1725)Gta>Ata		bromodomain adjacent to zinc finger domain, 2B							212.0	200.0	204.0					2																	160289445		1928	4136	6064	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289445C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1723G>A	2.37:g.160289445C>T	ENSP00000376534:p.Val575Ile					BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I	p.V575I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			9	2218	-			575					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1723G>A	CCDS2209.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.30|10.30|10.30	1.313359|1.313359|1.313359	0.23908|0.23908|0.23908	.|.|.	.|.|.	ENSG00000123636|ENSG00000123636|ENSG00000123636	ENST00000546335|ENST00000441143|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|.|T;T;T;D	.|.|0.85411	.|.|0.85;0.85;0.85;-1.98	5.92|5.92|5.92	3.05|3.05|3.05	0.35203|0.35203|0.35203	.|.|.	.|.|0.605656	.|.|0.12140	.|.|U	.|.|0.495959	.|T|T	.|0.75466|0.75466	.|0.3853|0.3853	N|N|N	0.16478|0.16478|0.16478	0.41|0.41|0.41	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	.|.|P;B;B;B;B	.|.|0.46859	.|.|0.885;0.0;0.0;0.0;0.0	.|.|P;B;B;B;B	.|.|0.47981	.|.|0.563;0.002;0.002;0.003;0.001	.|T|T	.|0.61879|0.61879	.|-0.6972|-0.6972	.|5|10	.|.|0.20046	.|.|T	.|.|0.44	.|-1.6543|-1.6543	5.3963|5.3963|5.3963	0.16271|0.16271|0.16271	0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703	.|.|.	.|.|575;379;573;573;575	.|.|Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.|.|.;.;.;.;BAZ2B_HUMAN	.|N|I	-1|6|573;575;575;573	.|.|ENSP00000376533:V573I;ENSP00000376534:V575I;ENSP00000348087:V575I;ENSP00000339670:V573I	.|.|ENSP00000339670:V573I	.|S|V	-|-|-	.|2|1	.|0|0	BAZ2B|BAZ2B|BAZ2B	159997691|159997691|159997691	0.850000|0.850000|0.850000	0.29656|0.29656|0.29656	0.004000|0.004000|0.004000	0.12327|0.12327|0.12327	0.532000|0.532000|0.532000	0.34746|0.34746|0.34746	1.138000|1.138000|1.138000	0.31491|0.31491|0.31491	0.347000|0.347000|0.347000	0.23924|0.23924|0.23924	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|AGT|GTA		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			182	520	0	0	0	1	0	182	520				
FAM83C	128876	broad.mit.edu	37	20	33874450	33874450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33874450C>A	ENST00000374408.3	-	4	2228	c.2132G>T	c.(2131-2133)aGt>aTt	p.S711I	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	711										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCAGGTCACTGTTACCACC	0.562																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2131-2133)aGt>aTt		family with sequence similarity 83, member C							112.0	106.0	108.0					20																	33874450		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33874450C>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2132G>T	20.37:g.33874450C>A	ENSP00000363529:p.Ser711Ile						p.S711I	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	2228	-			711					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.2132G>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038302	0.08148	.	.	ENSG00000125998	ENST00000374408	T	0.07567	3.18	4.43	0.193	0.15139	.	1.521730	0.03597	N	0.232847	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.28784	0.094	T	0.38950	-0.9637	10	0.87932	D	0	-10.6538	4.8603	0.13581	0.0:0.2742:0.1535:0.5723	.	711	Q9BQN1	FA83C_HUMAN	I	711	ENSP00000363529:S711I	ENSP00000363529:S711I	S	-	2	0	FAM83C	33337864	0.299000	0.24426	0.943000	0.38184	0.006000	0.05464	0.540000	0.23191	0.285000	0.22329	-0.672000	0.03802	AGT		0.562	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			97	381	1	0	1.64877e-56	1	2.06338e-56	97	381				
UBR5	51366	broad.mit.edu	37	8	103266610	103266610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103266610C>T	ENST00000520539.1	-	59	8926	c.8320G>A	c.(8320-8322)Gtc>Atc	p.V2774I	KB-431C1.4_ENST00000499653.1_RNA|UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I|UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000520820.1_RNA|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2774	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGAGTGGGACGTAAAGTCGA	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(8320-8322)Gtc>Atc		ubiquitin protein ligase E3 component n-recognin 5							194.0	178.0	183.0					8																	103266610		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103266610C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8320G>A	8.37:g.103266610C>T	ENSP00000429084:p.Val2774Ile					UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I|UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I	p.V2774I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		59	8926	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2774			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.8320G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	6.479	0.456561	0.12283	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.76	5.76	0.90799	HECT (4);	0.000000	0.64402	D	0.000001	T	0.25644	0.0624	N	0.01771	-0.73	0.80722	D	1	B;B	0.31790	0.34;0.34	B;B	0.26517	0.045;0.07	T	0.35649	-0.9780	10	0.06099	T	0.92	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	2767;2774	E7EMW7;O95071	.;UBR5_HUMAN	I	2774;2773;502;2767	ENSP00000429084:V2774I;ENSP00000220959:V2773I;ENSP00000428693:V502I;ENSP00000427819:V2767I	ENSP00000220959:V2773I	V	-	1	0	UBR5	103335786	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.734000	0.84928	2.706000	0.92434	0.563000	0.77884	GTC		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		49	175	0	0	0	1	0	49	175				
TRIM71	131405	broad.mit.edu	37	3	32860298	32860298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32860298G>A	ENST00000383763.5	+	1	789	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	242					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P242P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCGCGGCCCGCCGGGTCCCG	0.721																																						ENST00000383763.4																			1	Substitution - coding silent(1)	p.P242P(1)	lung(1)	breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(724-726)ccG>ccA		tripartite motif containing 71, E3 ubiquitin protein ligase							11.0	12.0	12.0					3																	32860298		1658	3720	5378	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32860298G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.726G>A	3.37:g.32860298G>A							p.P242P	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			1	789	+			242						Silent	SNP	ENST00000383763.5	37	c.726G>A	CCDS43060.1																																																																																				0.721	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		44	208	0	0	0	1	0	44	208				
TNN	63923	broad.mit.edu	37	1	175049459	175049459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175049459C>T	ENST00000239462.4	+	4	1058	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	315	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAGCACAGCTATGAGATTC	0.547																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(943-945)agC>agT		tenascin N							120.0	114.0	116.0					1																	175049459		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049459C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.945C>T	1.37:g.175049459C>T							p.S315S	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1058	+		Breast(1374;0.000962)	315			Fibronectin type-III 1.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.945C>T	CCDS30943.1																																																																																				0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	428	0	0	0	1	0	16	428				
TTN	7273	broad.mit.edu	37	2	179462653	179462653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462653C>T	ENST00000591111.1	-	243	52545	c.52321G>A	c.(52321-52323)Gaa>Aaa	p.E17441K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E19082K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17441	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TCCTTCATTTCAATGACATCT	0.373																																						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.(57244-57246)Gaa>Aaa		titin							160.0	155.0	157.0					2																	179462653		1899	4125	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462653C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52321G>A	2.37:g.179462653C>T	ENSP00000465570:p.Glu17441Lys					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17441K	p.E19082K	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)		293	57468	-			17441			Fibronectin type-III 38.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.57244G>A		.	.	.	.	.	.	.	.	.	.	C	17.12	3.307995	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.87	5.87	0.94306	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44371	0.1290	N	0.11313	0.125	0.58432	D	0.999994	D;D;D;D	0.58620	0.966;0.966;0.966;0.983	P;P;P;P	0.51016	0.505;0.505;0.505;0.656	T	0.51841	-0.8654	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	10017;10142;10209;17441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	16514;10017;10209;10142;10015	ENSP00000343764:E16514K;ENSP00000434586:E10017K;ENSP00000340554:E10209K;ENSP00000352154:E10142K	ENSP00000340554:E10209K	E	-	1	0	TTN	179170898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.904000	0.69886	2.941000	0.99782	0.655000	0.94253	GAA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		83	404	0	0	0	1	0	83	404				
ZNF12	7559	broad.mit.edu	37	7	6730700	6730700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6730700G>A	ENST00000405858.1	-	5	2414	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	625					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGAATTCGATGATGTATA	0.413																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1873-1875)Cga>Tga		zinc finger protein 12							81.0	87.0	85.0					7																	6730700		2199	4300	6499	SO:0001587	stop_gained	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730700G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1873C>T	7.37:g.6730700G>A	ENSP00000385939:p.Arg625*					AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*	p.R625*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2414	-		Ovarian(82;0.0776)	625					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	ENST00000405858.1	37	c.1873C>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	43	9.845057	0.99277	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	4.17	1.09	0.20402	.	0.000000	0.33327	N	0.005033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7017	0.51575	0.0:0.0:0.3034:0.6966	.	.	.	.	X	551;625;587;683	.	ENSP00000344745:R587X	R	-	1	2	ZNF12	6697225	0.000000	0.05858	0.995000	0.50966	0.996000	0.88848	-0.696000	0.05104	0.208000	0.20626	-0.188000	0.12872	CGA		0.413	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		40	188	0	0	0	1	0	40	188				
MYH1	4619	broad.mit.edu	37	17	10409416	10409416	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10409416C>T	ENST00000226207.5	-	18	2063	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	657	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAAATTCTCCTGTGGAACC	0.363																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e18-1		myosin, heavy chain 1, skeletal muscle, adult							131.0	129.0	130.0					17																	10409416		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10409416C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1969-1G>A	17.37:g.10409416C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.E657_splice	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			18	2063	-			657			Myosin head-like.		Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37	c.1968_splice	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880945	0.91740	.	.	ENSG00000109061	ENST00000226207	T	0.72167	-0.63	5.18	5.18	0.71444	Myosin head, motor domain (2);	0.000000	0.43579	U	0.000542	D	0.83580	0.5285	M	0.82630	2.6	0.80722	D	1	P	0.49961	0.93	P	0.56865	0.808	D	0.85289	0.1066	10	0.66056	D	0.02	.	19.2559	0.93945	0.0:1.0:0.0:0.0	.	657	P12882	MYH1_HUMAN	K	657	ENSP00000226207:E657K	ENSP00000226207:E657K	E	-	1	0	MYH1	10350141	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.425000	0.80255	2.861000	0.98227	0.650000	0.86243	GAG		0.363	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Missense_Mutation	105	451	0	0	0	1	0	105	451				
ENPP3	5169	broad.mit.edu	37	6	131997935	131997935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131997935C>T	ENST00000414305.1	+	11	1260	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	311	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTGCCCAAAGCTGAAAGGTAA	0.318																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(931-933)gCt>gTt		ectonucleotide pyrophosphatase/phosphodiesterase 3							81.0	79.0	79.0					6																	131997935		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131997935C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.932C>T	6.37:g.131997935C>T	ENSP00000406261:p.Ala311Val					ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V	p.A311V			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	11	1260	+	Breast(56;0.0753)		311			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.932C>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703247	0.68501	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75477	-0.94;-0.94;-0.94	4.84	3.95	0.45737	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.741475	0.12195	N	0.490799	T	0.62441	0.2428	M	0.64676	1.99	0.80722	D	1	P	0.38335	0.627	B	0.41135	0.348	T	0.60826	-0.7186	10	0.34782	T	0.22	-5.1856	11.5456	0.50693	0.3241:0.6759:0.0:0.0	.	311	O14638	ENPP3_HUMAN	V	311	ENSP00000406261:A311V;ENSP00000350265:A311V;ENSP00000350964:A311V	ENSP00000350265:A311V	A	+	2	0	ENPP3	132039628	0.008000	0.16893	1.000000	0.80357	0.950000	0.60333	0.198000	0.17217	1.127000	0.42034	0.549000	0.68633	GCT		0.318	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			51	219	0	0	0	1	0	51	219				
DHX30	22907	broad.mit.edu	37	3	47891449	47891449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891449C>T	ENST00000445061.1	+	22	3831	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W	DHX30_ENST00000446256.2_Missense_Mutation_p.R1103W|DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W|DHX30_ENST00000348968.4_Missense_Mutation_p.R1114W|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1142						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGGAGCTGCGGCGGGCCCT	0.697											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3307-3309)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box helicase 30							23.0	24.0	24.0					3																	47891449		2200	4297	6497	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891449C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3424C>T	3.37:g.47891449C>T	ENSP00000405620:p.Arg1142Trp		OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000445061.1_Missense_Mutation_p.R1142W|DHX30_ENST00000348968.4_Missense_Mutation_p.R1114W|DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W	p.R1103W	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	23	3879	+			1142					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3307C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214897	0.79352	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.10192	2.95;2.92;2.94;2.9	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.03662	-1.1015	10	0.87932	D	0	.	16.6955	0.85334	0.0:1.0:0.0:0.0	.	1142;1103	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	W	1103;1142;1114;1170	ENSP00000392601:R1103W;ENSP00000405620:R1142W;ENSP00000343442:R1114W;ENSP00000394682:R1170W	ENSP00000343442:R1114W	R	+	1	2	DHX30	47866453	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.851000	0.55926	2.160000	0.67779	0.462000	0.41574	CGG		0.697	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		31	202	0	0	0	1	0	31	202				
FAT3	120114	broad.mit.edu	37	11	92088327	92088327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92088327C>T	ENST00000298047.6	+	1	3066	c.3049C>T	c.(3049-3051)Cgg>Tgg	p.R1017W	FAT3_ENST00000525166.1_Missense_Mutation_p.R867W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W|FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1017	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACAAAGGGCGGCCTGTCTC	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3049-3051)Cgg>Tgg		FAT atypical cadherin 3							87.0	88.0	88.0					11																	92088327		1940	4144	6084	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088327C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3049C>T	11.37:g.92088327C>T	ENSP00000298047:p.Arg1017Trp	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W|FAT3_ENST00000525166.1_Missense_Mutation_p.R867W	p.R1017W			Q8TDW7	FAT3_HUMAN			1	3066	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1017			Cadherin 9.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3049C>T		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738915	0.49045	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	4.9	0.64082	.	.	.	.	.	T	0.60379	0.2264	L	0.46670	1.46	0.35678	D	0.813842	D	0.89917	1.0	D	0.70935	0.971	T	0.70737	-0.4790	9	0.62326	D	0.03	.	13.1108	0.59273	0.2917:0.7083:0.0:0.0	.	1017	Q8TDW7-3	.	W	1017;1017;1017;867	ENSP00000298047:R1017W;ENSP00000387040:R1017W;ENSP00000443786:R1017W;ENSP00000432586:R867W	ENSP00000298047:R1017W	R	+	1	2	FAT3	91727975	0.951000	0.32395	1.000000	0.80357	1.000000	0.99986	1.969000	0.40510	1.452000	0.47756	0.655000	0.94253	CGG		0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	175	0	0	0	1	0	9	175				
SPRTN	83932	broad.mit.edu	37	1	231487087	231487087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231487087G>A	ENST00000295050.7	+	4	824	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	SPRTN_ENST00000008440.9_Missense_Mutation_p.R120Q|SPRTN_ENST00000391858.4_Missense_Mutation_p.R163Q|SPRTN_ENST00000469904.1_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	163	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										GATGAGTATCGGCGACACTGG	0.458																																						ENST00000391858.4																			0											c.(487-489)cGg>cAg		SprT-like N-terminal domain							70.0	71.0	70.0					1																	231487087		2203	4300	6503	SO:0001583	missense	83932							g.chr1:231487087G>A	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.488G>A	1.37:g.231487087G>A	ENSP00000295050:p.Arg163Gln					SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000295050.7_Missense_Mutation_p.R163Q|SPRTN_ENST00000008440.9_Missense_Mutation_p.R120Q	p.R163Q							4	1768	+								B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.488G>A	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	G	36	5.897455	0.97081	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269;ENST00000366644	T;T;T	0.44881	0.91;0.91;0.91	5.74	5.74	0.90152	Domain of unknown function SprT-like (2);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.989	D;D;P	0.91635	0.999;0.914;0.902	T	0.54180	-0.8332	10	0.35671	T	0.21	-32.4859	20.2835	0.98531	0.0:0.0:1.0:0.0	.	120;163;163	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	Q	163;163;120;120;59	ENSP00000375731:R163Q;ENSP00000295050:R163Q;ENSP00000355604:R59Q	ENSP00000008440:R120Q	R	+	2	0	C1orf124	229553710	1.000000	0.71417	0.983000	0.44433	0.957000	0.61999	9.813000	0.99286	2.873000	0.98535	0.643000	0.83706	CGG		0.458	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		95	349	0	0	0	1	0	95	349				
PARP6	56965	broad.mit.edu	37	15	72551961	72551961	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72551961T>C	ENST00000569795.1	-	11	1485	c.798A>G	c.(796-798)ggA>ggG	p.G266G	PARP6_ENST00000260376.7_Silent_p.G266G|PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	266							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GAACGAGGAATCCATACTCCA	0.493																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(796-798)ggA>ggG		poly (ADP-ribose) polymerase family, member 6							295.0	289.0	291.0					15																	72551961		1921	4136	6057	SO:0001819	synonymous_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72551961T>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.798A>G	15.37:g.72551961T>C						PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Silent_p.G266G	p.G266G			Q2NL67	PARP6_HUMAN			11	1485	-			266					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.798A>G	CCDS10241.2																																																																																				0.493	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		250	1050	0	0	0	1	0	250	1050				
FRMPD2	143162	broad.mit.edu	37	10	49446033	49446033	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49446033C>T	ENST00000374201.3	-	8	1224		c.e8+1		FRMPD2_ENST00000305531.3_Splice_Site|FRMPD2_ENST00000407470.4_Splice_Site	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATTTTGCTTACCTTGCTCCTT	0.577																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.e8+1		FERM and PDZ domain containing 2							127.0	126.0	126.0					10																	49446033		2203	4300	6503	SO:0001630	splice_region_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49446033C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.921+1G>A	10.37:g.49446033C>T						FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site		NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	8	1224	-								B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Splice_Site	SNP	ENST00000374201.3	37		CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609163	0.28623	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7138	0.57103	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMPD2	49116039	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	3.079000	0.50104	2.268000	0.75426	0.462000	0.41574	.		0.577	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	Intron	165	697	0	0	0	1	0	165	697				
XKR9	389668	broad.mit.edu	37	8	71646310	71646310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646310G>T	ENST00000408926.3	+	5	1307	c.773G>T	c.(772-774)aGt>aTt	p.S258I	XKR9_ENST00000520030.1_Missense_Mutation_p.S258I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	258						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACTTGTATAAGTATGGAATTC	0.274																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(772-774)aGt>aTt		XK, Kell blood group complex subunit-related family, member 9							114.0	113.0	113.0					8																	71646310		2201	4297	6498	SO:0001583	missense	389668					integral to membrane		g.chr8:71646310G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.773G>T	8.37:g.71646310G>T	ENSP00000386141:p.Ser258Ile					XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.S258I	p.S258I	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1307	+	Breast(64;0.0716)		258					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.773G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	4.350	0.064419	0.08388	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64438	-0.1;-0.1	4.99	4.09	0.47781	.	1.137670	0.06108	N	0.666720	T	0.58652	0.2137	L	0.55481	1.735	0.09310	N	1	P	0.38395	0.629	B	0.41619	0.361	T	0.46748	-0.9169	10	0.21540	T	0.41	0.5492	4.7866	0.13227	0.086:0.1521:0.6048:0.1571	.	258	Q5GH70	XKR9_HUMAN	I	258	ENSP00000386141:S258I;ENSP00000431088:S258I	ENSP00000386141:S258I	S	+	2	0	XKR9	71808864	0.993000	0.37304	0.556000	0.28293	0.194000	0.23727	2.704000	0.47118	1.268000	0.44264	0.563000	0.77884	AGT		0.274	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		42	187	1	0	9.9191e-30	1	1.16027e-29	42	187				
RING1	6015	broad.mit.edu	37	6	33179292	33179292	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179292G>A	ENST00000374656.4	+	5	1021	c.813G>A	c.(811-813)ctG>ctA	p.L271L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	271	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCCACCCCCTGCTCGTGGAGA	0.627																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(811-813)ctG>ctA		ring finger protein 1							23.0	26.0	25.0					6																	33179292		1262	2567	3829	SO:0001819	synonymous_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179292G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.813G>A	6.37:g.33179292G>A						RING1_ENST00000478431.1_3'UTR	p.L271L	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			5	1021	+			271			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Silent	SNP	ENST00000374656.4	37	c.813G>A	CCDS34424.1																																																																																				0.627	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			46	182	0	0	0	1	0	46	182				
IKBKAP	8518	broad.mit.edu	37	9	111653624	111653624	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111653624G>A	ENST00000374647.5	-	28	3326	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1007					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAAACATGAGCCCCGCTGGC	0.527																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3019-3021)Ctc>Ttc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							75.0	68.0	71.0					9																	111653624		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111653624G>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3019C>T	9.37:g.111653624G>A	ENSP00000363779:p.Leu1007Phe					IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F	p.L1007F	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			28	3326	-			1007					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.3019C>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191802	0.78902	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.33865	1.79;1.39	5.87	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.52901	0.1763	M	0.63428	1.95	0.47659	D	0.999484	D	0.89917	1.0	D	0.79784	0.993	T	0.50189	-0.8857	10	0.49607	T	0.09	-14.8029	9.4432	0.38681	0.1607:0.0:0.8393:0.0	.	1007	O95163	ELP1_HUMAN	F	1007;658	ENSP00000363779:L1007F;ENSP00000439367:L658F	ENSP00000363779:L1007F	L	-	1	0	IKBKAP	110693445	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	3.297000	0.51810	2.779000	0.95612	0.591000	0.81541	CTC		0.527	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			62	321	0	0	0	1	0	62	321				
KIAA0226	9711	broad.mit.edu	37	3	197431564	197431564	+	Silent	SNP	G	G	A	rs557932058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431564G>A	ENST00000296343.5	-	4	311	c.312C>T	c.(310-312)agC>agT	p.S104S	KIAA0226_ENST00000389665.5_Silent_p.S104S|KIAA0226_ENST00000273582.5_Silent_p.S44S|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.S104S	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	104	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCGTGCACGCTGATGAACT	0.542													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19123	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(130-132)agC>agT		KIAA0226							47.0	47.0	47.0					3																	197431564		2109	4250	6359	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197431564G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.312C>T	3.37:g.197431564G>A						KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.S104S|KIAA0226_ENST00000296343.5_Silent_p.S104S|KIAA0226_ENST00000389665.5_Silent_p.S104S	p.S44S	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	4	677	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		104					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.132C>T	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	2.423	-0.332689	0.05314	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.84	4.75	0.60458	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61710	-0.7007	4	.	.	.	.	12.2711	0.54706	0.1033:0.0:0.8967:0.0	.	.	.	.	C	83	.	.	R	-	1	0	KIAA0226	198915961	1.000000	0.71417	0.480000	0.27341	0.202000	0.24057	3.885000	0.56182	1.123000	0.41961	0.643000	0.83706	CGT		0.542	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		14	207	0	0	0	1	0	14	207				
PGR	5241	broad.mit.edu	37	11	100999149	100999149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100999149G>A	ENST00000325455.5	-	1	2106	c.653C>T	c.(652-654)gCg>gTg	p.A218V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A218V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	218	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AACCTCCACCGCAGCGGCCTG	0.711																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(652-654)gCg>gTg		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						10.0	13.0	12.0					11																	100999149		2147	4241	6388	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999149G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.653C>T	11.37:g.100999149G>A	ENSP00000325120:p.Ala218Val					PGR_ENST00000263463.5_Missense_Mutation_p.A218V|PGR_ENST00000534013.1_Intron	p.A218V	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2106	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	218			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.653C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	1.375	-0.585081	0.03827	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08008	3.14;3.14	3.72	-5.21	0.02815	.	2.543820	0.01540	N	0.019191	T	0.03827	0.0108	N	0.17723	0.515	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.33445	-0.9868	10	0.02654	T	1	.	2.2323	0.04000	0.4059:0.1211:0.3515:0.1215	.	218;218	Q8TDS3;P06401	.;PRGR_HUMAN	V	218	ENSP00000325120:A218V;ENSP00000263463:A218V	ENSP00000263463:A218V	A	-	2	0	PGR	100504359	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.615000	0.05597	-0.747000	0.04759	-0.258000	0.10820	GCG		0.711	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			35	147	0	0	0	1	0	35	147				
DSP	1832	broad.mit.edu	37	6	7580632	7580632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7580632G>A	ENST00000379802.3	+	23	4550	c.4209G>A	c.(4207-4209)agG>agA	p.R1403R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1403	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAAAACAGGAGCTTATCTG	0.493																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4207-4209)agG>agA		desmoplakin							63.0	66.0	65.0					6																	7580632		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580632G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4209G>A	6.37:g.7580632G>A						DSP_ENST00000418664.2_Intron	p.R1403R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4550	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1403			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.4209G>A	CCDS4501.1																																																																																				0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		74	290	0	0	0	1	0	74	290				
SNW1	22938	broad.mit.edu	37	14	78189607	78189607	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78189607T>C	ENST00000261531.7	-	11	1109	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.A187A|SNW1_ENST00000555761.1_Silent_p.A349A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	349					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCCTCTCACGTGCCTCCCCAT	0.413																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1045-1047)gcA>gcG		SNW domain containing 1							136.0	109.0	118.0					14																	78189607		2203	4300	6503	SO:0001819	synonymous_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78189607T>C	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1047A>G	14.37:g.78189607T>C						SNW1_ENST00000555761.1_Silent_p.A349A|SNW1_ENST00000554775.1_Silent_p.A187A|SLIRP_ENST00000557431.1_Intron	p.A349A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	11	1109	-			349					A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	37	c.1047A>G	CCDS9867.1																																																																																				0.413	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		89	395	0	0	0	1	0	89	395				
PTBP1	5725	broad.mit.edu	37	19	806450	806450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:806450C>T	ENST00000349038.4	+	9	1008	c.935C>T	c.(934-936)gCc>gTc	p.A312V	PTBP1_ENST00000394601.4_Missense_Mutation_p.A331V|PTBP1_ENST00000356948.6_Missense_Mutation_p.A338V|PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	312					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCCTGGCCATCCCCTCG	0.697																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1012-1014)gCc>gTc		polypyrimidine tract binding protein 1							15.0	18.0	17.0					19																	806450		2190	4273	6463	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:806450C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.935C>T	19.37:g.806450C>T	ENSP00000014112:p.Ala312Val					PTBP1_ENST00000349038.4_Missense_Mutation_p.A312V|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A331V	p.A338V	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1436	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	312			RRM 3.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.1013C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336728	0.24253	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50548	0.74;0.79;1.13	4.29	3.25	0.37280	.	0.201845	0.41001	D	0.000969	T	0.44244	0.1284	L	0.56769	1.78	0.80722	D	1	B;B;B	0.31174	0.077;0.005;0.311	B;B;B	0.32677	0.044;0.014;0.15	T	0.43180	-0.9407	10	0.56958	D	0.05	-12.4848	11.1165	0.48264	0.0:0.9089:0.0:0.0911	.	312;331;338	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	338;331;312	ENSP00000349428:A338V;ENSP00000408096:A331V;ENSP00000014112:A312V	ENSP00000014112:A312V	A	+	2	0	PTBP1	757450	1.000000	0.71417	0.926000	0.36857	0.023000	0.10783	4.477000	0.60223	0.804000	0.34136	-0.251000	0.11542	GCC		0.697	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			6	158	0	0	0	1	0	6	158				
KIF27	55582	broad.mit.edu	37	9	86518595	86518595	+	Missense_Mutation	SNP	C	C	T	rs372449530		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518595C>T	ENST00000297814.2	-	4	981	c.838G>A	c.(838-840)Gct>Act	p.A280T	KIF27_ENST00000413982.1_Missense_Mutation_p.A280T|KIF27_ENST00000334204.2_Missense_Mutation_p.A280T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	280	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCCCAAGAGCGCTTATTACA	0.438																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(838-840)Gct>Act		kinesin family member 27		C	THR/ALA	0,4406		0,0,2203	78.0	82.0	81.0		838	4.8	1.0	9		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF27	NM_017576.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	280/1402	86518595	1,13005	2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518595C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.838G>A	9.37:g.86518595C>T	ENSP00000297814:p.Ala280Thr					KIF27_ENST00000334204.2_Missense_Mutation_p.A280T|KIF27_ENST00000413982.1_Missense_Mutation_p.A280T	p.A280T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	981	-			280					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.838G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471658	0.84533	0.0	1.16E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77620	-1.11;-1.11;-1.11	5.66	4.76	0.60689	Kinesin, motor domain (3);	0.000000	0.56097	D	0.000025	D	0.89750	0.6805	M	0.92077	3.27	0.52501	D	0.999955	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.68483	0.914;0.958;0.948	D	0.91639	0.5325	10	0.72032	D	0.01	.	14.0295	0.64606	0.0:0.9279:0.0:0.0721	.	280;280;280	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	280	ENSP00000297814:A280T;ENSP00000401688:A280T;ENSP00000333928:A280T	ENSP00000297814:A280T	A	-	1	0	KIF27	85708415	1.000000	0.71417	0.975000	0.42487	0.856000	0.48823	6.081000	0.71309	2.657000	0.90304	0.655000	0.94253	GCT		0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		75	351	0	0	0	1	0	75	351				
ODF2	4957	broad.mit.edu	37	9	131262527	131262527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131262527C>A	ENST00000434106.3	+	21	2846	c.2483C>A	c.(2482-2484)cCt>cAt	p.P828H	ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000351030.3_Missense_Mutation_p.P823H|ODF2_ENST00000604420.1_Missense_Mutation_p.P828H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H|ODF2_ENST00000393527.3_Missense_Mutation_p.P804H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	828					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGATCTCCTCCTGCCTGAGGC	0.552																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(2410-2412)cCt>cAt		outer dense fiber of sperm tails 2							134.0	116.0	122.0					9																	131262527		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131262527C>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2483C>A	9.37:g.131262527C>A	ENSP00000403453:p.Pro828His					ODF2_ENST00000372796.4_Missense_Mutation_p.P828H|ODF2_ENST00000434106.2_Missense_Mutation_p.P828H|ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H|ODF2_ENST00000351030.3_Missense_Mutation_p.P823H	p.P804H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			23	2996	+			828					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.2411C>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863291	0.91511	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.32515	1.58;1.45;1.57	5.5	4.6	0.57074	.	0.484236	0.19596	N	0.110515	T	0.31734	0.0806	N	0.14661	0.345	0.80722	D	1	P;D;P;B	0.69078	0.743;0.997;0.743;0.444	B;P;B;B	0.57548	0.432;0.823;0.432;0.432	T	0.16217	-1.0410	10	0.87932	D	0	-10.0449	11.2733	0.49153	0.0:0.9148:0.0:0.0852	.	823;173;828;804	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	H	823;828;804	ENSP00000342581:P823H;ENSP00000361882:P828H;ENSP00000307781:P804H	ENSP00000307781:P804H	P	+	2	0	ODF2	130302348	0.941000	0.31946	0.490000	0.27465	0.702000	0.40608	1.728000	0.38105	1.314000	0.45095	0.561000	0.74099	CCT		0.552	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			80	524	1	0	2.05912e-35	1	2.45818e-35	80	524				
CAMSAP3	57662	broad.mit.edu	37	19	7671252	7671252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7671252G>T	ENST00000160298.4	+	3	599	c.498G>T	c.(496-498)gaG>gaT	p.E166D	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.E166D	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	166	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCAGCTTGGAGCACAAGCTGC	0.627																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(496-498)gaG>gaT		calmodulin regulated spectrin-associated protein family, member 3							72.0	78.0	76.0					19																	7671252		1983	4148	6131	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7671252G>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.498G>T	19.37:g.7671252G>T	ENSP00000160298:p.Glu166Asp					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E166D	p.E166D	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			3	599	+			166			CH.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.498G>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.911864	0.52439	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.25085	1.82;2.02	4.14	1.52	0.23074	Calponin homology domain (1);	0.137740	0.46442	D	0.000283	T	0.27278	0.0669	M	0.64997	1.995	0.31962	N	0.608328	B;B	0.30326	0.276;0.041	B;B	0.35813	0.211;0.028	T	0.34204	-0.9838	10	0.48119	T	0.1	-16.5692	9.974	0.41772	0.2186:0.0:0.7814:0.0	.	166;166	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	D	166	ENSP00000416797:E166D;ENSP00000160298:E166D	ENSP00000160298:E166D	E	+	3	2	KIAA1543	7577252	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.525000	0.35953	0.723000	0.32274	0.289000	0.19496	GAG		0.627	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		44	347	1	0	1.22674e-20	1	1.37621e-20	44	347				
MDH1B	130752	broad.mit.edu	37	2	207604335	207604335	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207604335T>C	ENST00000374412.3	-	11	1785	c.1510A>G	c.(1510-1512)Agt>Ggt	p.S504G	MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G|MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	504					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AACTCAAGACTCTGTGGCTTT	0.348																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(1510-1512)Agt>Ggt		malate dehydrogenase 1B, NAD (soluble)							105.0	103.0	104.0					2																	207604335		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207604335T>C		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1510A>G	2.37:g.207604335T>C	ENSP00000363533:p.Ser504Gly					MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G|MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G	p.S504G	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	11	1785	-			504					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.1510A>G	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965573	0.34659	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.34275	1.4;1.37;1.39	3.73	-0.204	0.13200	.	0.471361	0.15781	U	0.244910	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.14504	-1.0470	10	0.87932	D	0	.	6.2416	0.20793	0.0:0.3261:0.0:0.6739	.	503;504	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	G	504;406;503	ENSP00000363533:S504G;ENSP00000416577:S406G;ENSP00000389916:S503G	ENSP00000363533:S504G	S	-	1	0	MDH1B	207312580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.117000	0.11872	-0.509000	0.04479	AGT		0.348	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		29	186	0	0	0	1	0	29	186				
ATP10D	57205	broad.mit.edu	37	4	47589067	47589067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47589067G>A	ENST00000273859.3	+	22	4054	c.3785G>A	c.(3784-3786)aGc>aAc	p.S1262N		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1262					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCATTGGTAGCATCTTGTCT	0.433																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3784-3786)aGc>aAc		ATPase, class V, type 10D							262.0	222.0	235.0					4																	47589067		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47589067G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3785G>A	4.37:g.47589067G>A	ENSP00000273859:p.Ser1262Asn						p.S1262N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			22	4054	+			1262					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3785G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406645	0.62399	.	.	ENSG00000145246	ENST00000273859	T	0.63255	-0.03	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86843	0.6030	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91347	0.5101	10	0.87932	D	0	-6.3784	17.7053	0.88308	0.0:0.0:1.0:0.0	.	1262	Q9P241	AT10D_HUMAN	N	1262	ENSP00000273859:S1262N	ENSP00000273859:S1262N	S	+	2	0	ATP10D	47283824	1.000000	0.71417	0.984000	0.44739	0.005000	0.04900	9.515000	0.98015	2.665000	0.90641	0.655000	0.94253	AGC		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		88	413	0	0	0	1	0	88	413				
CEP192	55125	broad.mit.edu	37	18	13059273	13059273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059273G>A	ENST00000325971.8	+	19	4255	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I|CEP192_ENST00000506447.1_Missense_Mutation_p.V1484I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	888					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)	p.V888I(1)		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						GGCCAGCACCGTCACTCTCAC	0.458																																						ENST00000506447.1																			1	Substitution - Missense(1)	p.V888I(1)	ovary(1)	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.(4450-4452)Gtc>Atc		centrosomal protein 192kDa							148.0	136.0	140.0					18																	13059273		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13059273G>A	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.2662G>A	18.37:g.13059273G>A	ENSP00000317156:p.Val888Ile					CEP192_ENST00000325971.8_Missense_Mutation_p.V888I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I	p.V1484I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			21	4530	+			1079					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4450G>A		.	.	.	.	.	.	.	.	.	.	G	18.33	3.601079	0.66332	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80653	-1.4;-1.4;-1.4	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.89760	0.6808	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.962;0.996	D	0.90832	0.4717	10	0.87932	D	0	-15.641	18.8382	0.92171	0.0:0.0:1.0:0.0	.	1009;1484;888	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	I	1484;888;888;1009	ENSP00000427550:V1484I;ENSP00000317156:V888I;ENSP00000389190:V1009I	ENSP00000317156:V888I	V	+	1	0	CEP192	13049273	1.000000	0.71417	0.586000	0.28679	0.022000	0.10575	9.136000	0.94489	2.520000	0.84964	0.591000	0.81541	GTC		0.458	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		86	424	0	0	0	1	0	86	424				
IL12RB1	3594	broad.mit.edu	37	19	18187135	18187135	+	Silent	SNP	G	G	A	rs193097863	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18187135G>A	ENST00000600835.2	-	7	850	c.552C>T	c.(550-552)ggC>ggT	p.G184G	IL12RB1_ENST00000322153.7_Silent_p.G184G|IL12RB1_ENST00000593993.2_Silent_p.G184G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	184	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)	p.G184G(3)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTCCGCAGTCGCCCTAGAATA	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		21705	0.0		0.002	False		,,,				2504	0.0					ENST00000600835.1																			3	Substitution - coding silent(3)	p.G184G(3)	endometrium(2)|pancreas(1)	endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(550-552)ggC>ggT		interleukin 12 receptor, beta 1																																				SO:0001819	synonymous_variant	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18187135G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.552C>T	19.37:g.18187135G>A						IL12RB1_ENST00000322153.6_Silent_p.G184G|IL12RB1_ENST00000593993.1_Silent_p.G184G|IL12RB1_ENST00000430026.2_Silent_p.G184G	p.G184G			P42701	I12R1_HUMAN			7	855	-			184			Fibronectin type-III 2.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.552C>T	CCDS54232.1																																																																																				0.333	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			8	198	0	0	0	1	0	8	198				
ATAD2B	54454	broad.mit.edu	37	2	24033200	24033200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24033200C>A	ENST00000238789.5	-	18	2783	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	814						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACATGATTCCTCAGGTGTT	0.398																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2440-2442)Gaa>Taa		ATPase family, AAA domain containing 2B							91.0	95.0	94.0					2																	24033200		1888	4121	6009	SO:0001587	stop_gained	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24033200C>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2440G>T	2.37:g.24033200C>A	ENSP00000238789:p.Glu814*					ATAD2B_ENST00000474583.1_5'UTR	p.E814*	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			18	2783	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		814					B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	c.2440G>T	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.798718|10.798718	0.99470|0.99470	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000381024	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.546240|.	0.19494|.	N|.	0.112908|.	.|T	.|0.79747	.|0.4499	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77713	.|-0.2485	.|3	0.36615|.	T|.	0.2|.	.|.	19.7937|19.7937	0.96469|0.96469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	814|94	.|.	ENSP00000238789:E814X|.	E|R	-|-	1|3	0|2	ATAD2B|ATAD2B	23886704|23886704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.398	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		33	207	1	0	4.4194e-11	1	4.70867e-11	33	207				
AKR1C4	1109	broad.mit.edu	37	10	5247767	5247767	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5247767C>T	ENST00000380448.1	+	6	670	c.417C>T	c.(415-417)ttC>ttT	p.F139F	AKR1C4_ENST00000263126.1_Silent_p.F139F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	139					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.F139F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AAGTAATATTCGACACAGTGG	0.448																																						ENST00000380448.1																			1	Substitution - coding silent(1)	p.F139F(1)	large_intestine(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						c.(415-417)ttC>ttT		aldo-keto reductase family 1, member C4	NADH(DB00157)						139.0	118.0	125.0					10																	5247767		2203	4300	6503	SO:0001819	synonymous_variant	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5247767C>T	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.417C>T	10.37:g.5247767C>T						AKR1C4_ENST00000263126.1_Silent_p.F139F	p.F139F			P17516	AK1C4_HUMAN			6	670	+			139					Q5T6A3|Q8WW84|Q9NS54	Silent	SNP	ENST00000380448.1	37	c.417C>T	CCDS7064.1																																																																																				0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		55	225	0	0	0	1	0	55	225				
MMP26	56547	broad.mit.edu	37	11	5011082	5011082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5011082C>T	ENST00000380390.1	+	3	520	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MMP26_ENST00000300762.1_Missense_Mutation_p.H102Y			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	102					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GTGGAATAAGCACACTCTAAC	0.527																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(304-306)Cac>Tac		matrix metallopeptidase 26							63.0	53.0	56.0					11																	5011082		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5011082C>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.304C>T	11.37:g.5011082C>T	ENSP00000369753:p.His102Tyr					MMP26_ENST00000300762.1_Missense_Mutation_p.H102Y	p.H102Y			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	520	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	102					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.304C>T	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	6.808	0.518199	0.13005	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.20881	2.04;2.04	3.73	-4.56	0.03431	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.474640	0.04758	N	0.425797	T	0.13072	0.0317	L	0.35644	1.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25676	-1.0125	9	.	.	.	0.2539	2.7916	0.05390	0.2437:0.4949:0.1324:0.129	.	102	Q9NRE1	MMP26_HUMAN	Y	102	ENSP00000369753:H102Y;ENSP00000300762:H102Y	.	H	+	1	0	MMP26	4967658	0.001000	0.12720	0.219000	0.23793	0.016000	0.09150	1.163000	0.31798	-0.861000	0.04094	-1.181000	0.01715	CAC		0.527	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		8	159	0	0	0	1	0	8	159				
REPS1	85021	broad.mit.edu	37	6	139265101	139265101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139265101G>A	ENST00000450536.2	-	6	1379	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	REPS1_ENST00000415951.2_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C|REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000367663.4_Missense_Mutation_p.R269C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	269					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATTGCCTACGAATTTCAATG	0.363																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(805-807)Cgt>Tgt		RALBP1 associated Eps domain containing 1							152.0	137.0	142.0					6																	139265101		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139265101G>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.805C>T	6.37:g.139265101G>A	ENSP00000392065:p.Arg269Cys					REPS1_ENST00000415951.2_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C|REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000367663.4_Missense_Mutation_p.R269C	p.R269C			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	6	1379	-			269					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.805C>T		.	.	.	.	.	.	.	.	.	.	G	24.3	4.513044	0.85389	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.32988	1.44;1.43;1.45;1.45;1.43;1.43	6.01	6.01	0.97437	.	0.048115	0.85682	D	0.000000	T	0.34513	0.0900	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;D;P	0.63488	0.851;0.897;0.915;0.794	T	0.13019	-1.0525	10	0.59425	D	0.04	-11.6175	20.5211	0.99222	0.0:0.0:1.0:0.0	.	269;269;269;269	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	269;269;255;269;269;269;217	ENSP00000392065:R269C;ENSP00000356635:R269C;ENSP00000434251:R255C;ENSP00000386699:R269C;ENSP00000258062:R269C;ENSP00000397941:R269C	ENSP00000258062:R269C	R	-	1	0	REPS1	139306794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.861000	0.98227	0.650000	0.86243	CGT		0.363	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			44	235	0	0	0	1	0	44	235				
SLC43A2	124935	broad.mit.edu	37	17	1494748	1494748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1494748C>T	ENST00000301335.5	-	8	834	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000571650.1_Missense_Mutation_p.S249N|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	249					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCCAGCCAGCTGAACTTGAT	0.687																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(745-747)aGc>aAc		solute carrier family 43 (amino acid system L transporter), member 2							71.0	65.0	67.0					17																	1494748		2203	4300	6503	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1494748C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.746G>A	17.37:g.1494748C>T	ENSP00000301335:p.Ser249Asn					SLC43A2_ENST00000301335.4_Missense_Mutation_p.S249N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N	p.S249N			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	8	1052	-			249					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.746G>A	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465755	0.84425	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.34275	1.83;1.85;1.37	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	L	0.49350	1.555	0.80722	D	1	D;D;B;B	0.71674	0.998;0.998;0.182;0.151	D;D;B;B	0.80764	0.957;0.994;0.058;0.144	T	0.30268	-0.9984	10	0.19147	T	0.46	-21.9657	20.6439	0.99570	0.0:1.0:0.0:0.0	.	112;249;249;249	B7Z6X9;Q8N370-2;Q8N370;Q8N370-3	.;.;LAT4_HUMAN;.	N	249;249;112	ENSP00000301335:S249N;ENSP00000371582:S249N;ENSP00000408284:S112N	ENSP00000301335:S249N	S	-	2	0	SLC43A2	1441498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.666000	0.61554	2.884000	0.98904	0.655000	0.94253	AGC		0.687	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		72	361	0	0	0	1	0	72	361				
LAMA1	284217	broad.mit.edu	37	18	7015724	7015724	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7015724G>A	ENST00000389658.3	-	22	3216	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1041	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCTCACCTGGCACCCCACCT	0.512																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3121-3123)tgC>tgT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						137.0	115.0	123.0					18																	7015724		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7015724G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3123C>T	18.37:g.7015724G>A							p.C1041C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			22	3216	-		Colorectal(10;0.172)	1041			Laminin EGF-like 11.			Silent	SNP	ENST00000389658.3	37	c.3123C>T	CCDS32787.1																																																																																				0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		21	532	0	0	0	1	0	21	532				
FAM129B	64855	broad.mit.edu	37	9	130269379	130269379	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269379C>T	ENST00000373312.3	-	14	2199	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Silent_p.R649R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	662					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTCTCAGGCCGCAGACCTT	0.726																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1984-1986)cgG>cgA		family with sequence similarity 129, member B							9.0	9.0	9.0					9																	130269379		2167	4237	6404	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130269379C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1986G>A	9.37:g.130269379C>T						FAM129B_ENST00000373314.3_Silent_p.R649R	p.R662R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2199	-			662					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1986G>A	CCDS35145.1																																																																																				0.726	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		9	59	0	0	0	1	0	9	59				
MAP3K2	10746	broad.mit.edu	37	2	128088062	128088062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128088062G>A	ENST00000409947.1	-	6	566	c.284C>T	c.(283-285)aCt>aTt	p.T95I	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	95	OPR.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GTCATCTTGAGTAGTTAATGG	0.383																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(283-285)aCt>aTt		mitogen-activated protein kinase kinase kinase 2							69.0	62.0	65.0					2																	128088062		1882	4122	6004	SO:0001583	missense	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128088062G>A	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.284C>T	2.37:g.128088062G>A	ENSP00000387246:p.Thr95Ile					MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I	p.T95I			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	6	566	-	Colorectal(110;0.1)		95			OPR.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	c.284C>T	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813786	0.90790	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.23552	1.9;1.9	6.07	6.07	0.98685	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.47716	1.5	0.80722	D	1	P	0.37276	0.589	P	0.45610	0.487	T	0.03630	-1.1018	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	95	Q9Y2U5	M3K2_HUMAN	I	95	ENSP00000387246:T95I;ENSP00000343463:T95I	ENSP00000343463:T95I	T	-	2	0	MAP3K2	127804532	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	7.177000	0.77650	2.890000	0.99128	0.585000	0.79938	ACT		0.383	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		22	82	0	0	0	1	0	22	82				
FHOD3	80206	broad.mit.edu	37	18	34289191	34289191	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34289191A>G	ENST00000359247.4	+	14	1794	c.1794A>G	c.(1792-1794)gcA>gcG	p.A598A	FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000257209.4_Silent_p.A615A|FHOD3_ENST00000590592.1_Silent_p.A790A|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	598					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGGAGCAGGCACTAGAGCAAG	0.602																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1843-1845)gcA>gcG		formin homology 2 domain containing 3							72.0	78.0	76.0					18																	34289191		2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34289191A>G	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1794A>G	18.37:g.34289191A>G						FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000590592.1_Silent_p.A790A|FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000359247.4_Silent_p.A598A|FHOD3_ENST00000591635.1_Intron	p.A615A	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			15	1967	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	598					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.1845A>G																																																																																					0.602	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		110	482	0	0	0	1	0	110	482				
RNASE11	122651	broad.mit.edu	37	14	21052116	21052116	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21052116C>A	ENST00000610205.1	-	3	701	c.518G>T	c.(517-519)aGt>aTt	p.S173I	RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	173						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TGAGGTAACACTATGGTATTG	0.448																																						ENST00000335950.4																			0				endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(517-519)aGt>aTt		ribonuclease, RNase A family, 11 (non-active)							106.0	88.0	94.0					14																	21052116		2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052116C>A	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.518G>T	14.37:g.21052116C>A	ENSP00000476537:p.Ser173Ile					RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I	p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	3	980	-	all_cancers(95;0.00238)	all_lung(585;0.235)	173						Missense_Mutation	SNP	ENST00000610205.1	37	c.518G>T	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103399	0.56291	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503	T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.06	3.17	0.36434	Ribonuclease A, domain (3);	0.766368	0.12270	N	0.483906	T	0.72606	0.3481	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.60541	0.876	T	0.60209	-0.7308	10	0.56958	D	0.05	-12.3081	7.8189	0.29276	0.0:0.8873:0.0:0.1127	.	173	Q8TAA1	RNS11_HUMAN	I	173	ENSP00000338288:S173I;ENSP00000451318:S173I;ENSP00000451563:S173I;ENSP00000381093:S173I;ENSP00000381092:S173I;ENSP00000395210:S173I;ENSP00000401398:S173I;ENSP00000451839:S173I	ENSP00000338288:S173I	S	-	2	0	RNASE11	20121956	0.041000	0.20044	0.005000	0.12908	0.226000	0.24999	1.381000	0.34362	1.297000	0.44761	0.511000	0.50034	AGT		0.448	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		23	258	1	0	3.5997e-14	1	3.90403e-14	23	258				
CNNM2	54805	broad.mit.edu	37	10	104679834	104679834	+	Missense_Mutation	SNP	G	G	A	rs146507239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679834G>A	ENST00000369878.4	+	1	1785	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T|CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	533	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGTTGGACGCTATGCTGGA	0.463																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1597-1599)Gct>Act		cyclin M2		G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	115.0	121.0	119.0		1597,1597,1597	5.6	1.0	10	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	CNNM2	NM_017649.3,NM_199076.1,NM_199077.1	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	533/876,533/854,533/553	104679834	1,13005	2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679834G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1597G>A	10.37:g.104679834G>A	ENSP00000358894:p.Ala533Thr					CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T|CNNM2_ENST00000457502.2_Missense_Mutation_p.A291T|CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T	p.A533T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1721	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	533			CBS 2.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1597G>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599526	0.46318	2.27E-4	0.0	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;T;D	0.93426	-3.22;-0.99;-3.22	5.55	5.55	0.83447	Cystathionine beta-synthase, core (1);	0.103082	0.64402	D	0.000004	D	0.89420	0.6710	N	0.10916	0.065	0.58432	D	0.999999	B;B;D	0.56968	0.027;0.075;0.978	B;B;P	0.50049	0.024;0.011;0.629	D	0.87620	0.2509	10	0.16896	T	0.51	.	19.4871	0.95033	0.0:0.0:1.0:0.0	.	533;533;533	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	T	533	ENSP00000392875:A533T;ENSP00000358891:A533T;ENSP00000358894:A533T	ENSP00000286899:A533T	A	+	1	0	CNNM2	104669824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.750000	0.74888	2.604000	0.88044	0.561000	0.74099	GCT		0.463	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		81	714	0	0	0	1	0	81	714				
MYO1B	4430	broad.mit.edu	37	2	192225372	192225372	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192225372C>A	ENST00000392318.3	+	8	825	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	193	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTAGAGAAATCTCGGGTTGTT	0.388																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(577-579)tCt>tAt		myosin IB							181.0	188.0	186.0					2																	192225372		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192225372C>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.578C>A	2.37:g.192225372C>A	ENSP00000376132:p.Ser193Tyr					MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y	p.S193Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		8	825	+			193			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.578C>A	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712950	0.89112	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98855	1.0760	10	0.87932	D	0	.	18.0408	0.89318	0.0:1.0:0.0:0.0	.	193;193	O43795;O43795-2	MYO1B_HUMAN;.	Y	193	ENSP00000341903:S193Y;ENSP00000376132:S193Y;ENSP00000306382:S193Y;ENSP00000388140:S193Y;ENSP00000376130:S193Y	ENSP00000306382:S193Y	S	+	2	0	MYO1B	191933617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.073000	0.76784	2.681000	0.91329	0.655000	0.94253	TCT		0.388	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		54	906	1	0	4.00472e-15	1	4.3668e-15	54	906				
WNK4	65266	broad.mit.edu	37	17	40936549	40936549	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40936549G>A	ENST00000246914.5	+	4	1143	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGAGTACCCGTACTCCGAGT	0.582																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1120-1122)ccG>ccA		WNK lysine deficient protein kinase 4							90.0	72.0	78.0					17																	40936549		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40936549G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1122G>A	17.37:g.40936549G>A							p.P374P	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	4	1143	+		Breast(137;0.000143)	374			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.1122G>A	CCDS11439.1																																																																																				0.582	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			11	162	0	0	0	1	0	11	162				
CNTN3	5067	broad.mit.edu	37	3	74420531	74420531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74420531G>A	ENST00000263665.6	-	5	501	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	158	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCATTGAAGATCCAAGCAT	0.393																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(472-474)atC>atT		contactin 3 (plasmacytoma associated)							69.0	67.0	68.0					3																	74420531		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74420531G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.474C>T	3.37:g.74420531G>A							p.I158I	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	5	501	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	158			Ig-like C2-type 2.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.474C>T	CCDS33790.1																																																																																				0.393	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		28	178	0	0	0	1	0	28	178				
HERC2P3	283755	broad.mit.edu	37	15	20649517	20649517	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20649517C>T	ENST00000428453.1	-	0	2681							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTGCTGAGGGCTGTGCAGGGG	0.562																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															92.0	81.0	85.0					15																	20649517		2191	4272	6463			0							g.chr15:20649517C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649517C>T														0	2681	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.562	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		106	858	0	0	0	1	0	106	858				
TNFSF8	944	broad.mit.edu	37	9	117692528	117692528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117692528G>T	ENST00000223795.2	-	1	169	c.56C>A	c.(55-57)gCc>gAc	p.A19D		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	19					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CACATGCATGGCTGTGTCTCC	0.567																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(55-57)gCc>gAc		tumor necrosis factor (ligand) superfamily, member 8							81.0	83.0	82.0					9																	117692528		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117692528G>T	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.56C>A	9.37:g.117692528G>T	ENSP00000223795:p.Ala19Asp						p.A19D	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			1	169	-			19					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.56C>A	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309749	0.23821	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	4.57	0.56435	.	0.205833	0.33875	N	0.004480	T	0.50599	0.1625	L	0.32530	0.975	0.46131	D	0.998883	P	0.50443	0.935	P	0.50490	0.642	T	0.54549	-0.8277	9	0.87932	D	0	-12.895	11.6842	0.51476	0.0822:0.0:0.9178:0.0	.	19	P32971	TNFL8_HUMAN	D	19	.	ENSP00000223795:A19D	A	-	2	0	TNFSF8	116732349	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.109000	0.50345	1.306000	0.44926	0.544000	0.68410	GCC		0.567	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			102	532	1	0	1.08058e-43	1	1.32003e-43	102	532				
AMTN	401138	broad.mit.edu	37	4	71396761	71396761	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71396761A>C	ENST00000339336.4	+	8	493	c.363A>C	c.(361-363)caA>caC	p.Q121H	AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	121					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TCCAGCCACAAATCTTCACGA	0.478																																						ENST00000339336.4																			0				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19						c.(361-363)caA>caC		amelotin							41.0	42.0	42.0					4																	71396761		2203	4300	6503	SO:0001583	missense	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71396761A>C	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.363A>C	4.37:g.71396761A>C	ENSP00000341013:p.Gln121His					AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	p.Q121H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		8	493	+			121					Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	c.363A>C	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.062974	0.19987	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.70045	-0.45;-0.45	6.01	-3.7	0.04437	.	0.365001	0.24285	N	0.039878	T	0.45736	0.1357	L	0.32530	0.975	0.19300	N	0.999972	B;B	0.27140	0.169;0.169	B;B	0.25884	0.064;0.064	T	0.32107	-0.9919	10	0.51188	T	0.08	-0.0032	6.0287	0.19669	0.32:0.3932:0.2867:0.0	.	120;121	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	H	121;120	ENSP00000341013:Q121H;ENSP00000422452:Q120H	ENSP00000341013:Q121H	Q	+	3	2	AMTN	71431350	0.993000	0.37304	0.090000	0.20809	0.062000	0.15995	0.194000	0.17135	-0.335000	0.08451	-0.321000	0.08615	CAA		0.478	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		42	153	0	0	0	1	0	42	153				
TRPC5	7224	broad.mit.edu	37	X	111097109	111097109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097109T>C	ENST00000262839.2	-	4	2044	c.1126A>G	c.(1126-1128)Acc>Gcc	p.T376A		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	376					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGAGGAAGGTCAAATAGGAT	0.488																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1126-1128)Acc>Gcc		transient receptor potential cation channel, subfamily C, member 5							129.0	111.0	117.0					X																	111097109		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097109T>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1126A>G	X.37:g.111097109T>C	ENSP00000262839:p.Thr376Ala						p.T376A	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			4	2044	-			376					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1126A>G	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184230	0.57800	.	.	ENSG00000072315	ENST00000262839	T	0.56611	0.45	4.95	4.95	0.65309	.	0.045076	0.85682	D	0.000000	T	0.51753	0.1693	M	0.66506	2.035	0.80722	D	1	B;B	0.30281	0.157;0.275	B;B	0.29176	0.059;0.099	T	0.55049	-0.8201	10	0.49607	T	0.09	-2.7783	13.9562	0.64150	0.0:0.0:0.0:1.0	.	377;376	Q59G51;Q9UL62	.;TRPC5_HUMAN	A	376	ENSP00000262839:T376A	ENSP00000262839:T376A	T	-	1	0	TRPC5	110983765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	1.939000	0.56221	0.486000	0.48141	ACC		0.488	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		22	463	0	0	0	1	0	22	463				
CD34	947	broad.mit.edu	37	1	208062870	208062870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208062870G>A	ENST00000310833.7	-	5	1015	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.L232F|CD34_ENST00000537704.1_Missense_Mutation_p.L97F|CD34_ENST00000367036.3_Missense_Mutation_p.L74F	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	232					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGGGCAAGGAGCAGGGAGCAT	0.617																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(694-696)Ctc>Ttc		CD34 molecule							75.0	70.0	72.0					1																	208062870		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062870G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.694C>T	1.37:g.208062870G>A	ENSP00000310036:p.Leu232Phe					CD34_ENST00000485761.1_5'UTR|CD34_ENST00000310833.7_Missense_Mutation_p.L232F|CD34_ENST00000367036.3_Missense_Mutation_p.L74F|CD34_ENST00000537704.1_Missense_Mutation_p.L97F	p.L232F	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			5	1015	-			232					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.694C>T	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269298	0.59540	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.38	3.32	0.38043	.	0.574499	0.17561	N	0.169820	T	0.43634	0.1256	M	0.63428	1.95	0.27559	N	0.950238	D;D;D;D	0.76494	0.999;0.999;0.997;0.997	D;D;D;D	0.70487	0.969;0.956;0.935;0.952	T	0.16988	-1.0384	10	0.46703	T	0.11	-3.214	9.9748	0.41777	0.0:0.0:0.5552:0.4448	.	97;232;232;74	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	F	232;232;74;97;202	ENSP00000310036:L232F;ENSP00000348916:L232F;ENSP00000356003:L74F;ENSP00000442874:L97F	ENSP00000310036:L232F	L	-	1	0	CD34	206129493	0.907000	0.30839	0.849000	0.33467	0.742000	0.42306	0.784000	0.26816	1.243000	0.43853	0.650000	0.86243	CTC		0.617	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		5	183	0	0	0	1	0	5	183				
NIPBL	25836	broad.mit.edu	37	5	36961636	36961636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36961636C>T	ENST00000282516.8	+	5	908	c.409C>T	c.(409-411)Cct>Tct	p.P137S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	137					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCACAGTAGTCCTGCATCTTC	0.328																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(409-411)Cct>Tct		Nipped-B homolog (Drosophila)							150.0	148.0	149.0					5																	36961636		2203	4299	6502	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36961636C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.409C>T	5.37:g.36961636C>T	ENSP00000282516:p.Pro137Ser					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S	p.P137S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		5	908	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		137					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.409C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164427	0.78339	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95518	-3.72;-3.73	5.01	5.01	0.66863	.	0.204155	0.42821	D	0.000642	D	0.96531	0.8868	M	0.62723	1.935	0.51482	D	0.999924	D;D	0.69078	0.994;0.997	P;P	0.59357	0.637;0.856	D	0.95418	0.8504	10	0.30078	T	0.28	.	18.2672	0.90055	0.0:1.0:0.0:0.0	.	137;137	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	137	ENSP00000282516:P137S;ENSP00000406266:P137S	ENSP00000282516:P137S	P	+	1	0	NIPBL	36997393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.481000	0.83766	0.655000	0.94253	CCT		0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		70	387	0	0	0	1	0	70	387				
PSG5	5673	broad.mit.edu	37	19	43679390	43679390	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43679390T>G	ENST00000366175.3	-	4	1071	c.941A>C	c.(940-942)aAa>aCa	p.K314T	PSG5_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Missense_Mutation_p.K314T|PSG5_ENST00000407356.1_Missense_Mutation_p.K314T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	314	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGTCATGGATTTGGAGCTTTC	0.458																																						ENST00000404580.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(940-942)aAa>aCa		pregnancy specific beta-1-glycoprotein 5							114.0	139.0	130.0					19																	43679390		2202	4294	6496	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43679390T>G		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.941A>C	19.37:g.43679390T>G	ENSP00000382334:p.Lys314Thr					PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000366175.3_Missense_Mutation_p.K314T|PSG5_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000407356.1_Missense_Mutation_p.K314T	p.K314T			Q15238	PSG5_HUMAN			4	1029	-		Prostate(69;0.00899)	314			Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.941A>C	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.374823	0.00207	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	1.25	-0.00511	0.14018	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05273	0.0140	N	0.11756	0.17	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.17722	0.019;0.006	T	0.43393	-0.9394	9	0.02654	T	1	.	4.6039	0.12366	0.0:0.0:0.626:0.374	.	407;314	Q15228;Q15238	.;PSG5_HUMAN	T	314	ENSP00000382334:K314T;ENSP00000386008:K314T;ENSP00000344413:K314T;ENSP00000385250:K314T	ENSP00000344413:K314T	K	-	2	0	PSG5	48371230	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.706000	0.05047	-0.160000	0.11002	-1.566000	0.00877	AAA		0.458	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		188	1002	0	0	0	1	0	188	1002				
USH2A	7399	broad.mit.edu	37	1	215844619	215844619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215844619G>A	ENST00000307340.3	-	64	14214	c.13828C>T	c.(13828-13830)Caa>Taa	p.Q4610*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q4610*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4610	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCACGCTTGAATTCGTATT	0.428										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13828-13830)Caa>Taa		Usher syndrome 2A (autosomal recessive, mild)							83.0	82.0	82.0					1																	215844619		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844619G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13828C>T	1.37:g.215844619G>A	ENSP00000305941:p.Gln4610*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q4610*	p.Q4610*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14214	-			4610			Fibronectin type-III 31.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.13828C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	56	26.069887	0.99967	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	4.94	4.01	0.46588	.	0.000000	0.41712	D	0.000827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1318	0.65260	0.0:0.286:0.714:0.0	.	.	.	.	X	4610	.	ENSP00000305941:Q4610X	Q	-	1	0	USH2A	213911242	1.000000	0.71417	0.883000	0.34634	0.818000	0.46254	3.830000	0.55768	1.179000	0.42884	0.650000	0.86243	CAA		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	327	0	0	0	1	0	8	327				
CNTD1	124817	broad.mit.edu	37	17	40951182	40951182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40951182G>T	ENST00000588408.1	+	1	373	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	33	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTCACTTGGCCCAGCAGAA	0.632																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(97-99)Gcc>Tcc		cyclin N-terminal domain containing 1							45.0	43.0	44.0					17																	40951182		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40951182G>T	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.97G>T	17.37:g.40951182G>T	ENSP00000465204:p.Ala33Ser					CNTD1_ENST00000588527.1_Intron	p.A33S	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	1	373	+		Breast(137;0.00104)	33			Cyclin N-terminal.		Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.97G>T	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890450	0.52014	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.04	5.04	0.67666	Cyclin-like (1);	0.254806	0.39146	N	0.001455	T	0.58552	0.2130	M	0.61703	1.905	0.80722	D	1	B	0.26876	0.162	B	0.18871	0.023	T	0.57219	-0.7849	9	0.37606	T	0.19	-2.1701	15.0029	0.71489	0.0:0.0:0.8574:0.1426	.	33	Q8N815	CNTD1_HUMAN	S	33	.	ENSP00000316647:A33S	A	+	1	0	CNTD1	38204708	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.244000	0.58728	2.629000	0.89072	0.655000	0.94253	GCC		0.632	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		47	226	1	0	3.86236e-30	1	4.52529e-30	47	226				
MMP21	118856	broad.mit.edu	37	10	127456127	127456127	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127456127A>G	ENST00000368808.3	-	6	1383	c.1384T>C	c.(1384-1386)Tta>Cta	p.L462L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	462					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	AAGTAAATTAACTTCTGTCTT	0.423																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1384-1386)Tta>Cta		matrix metallopeptidase 21							114.0	111.0	112.0					10																	127456127		2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127456127A>G	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1384T>C	10.37:g.127456127A>G							p.L462L	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			6	1383	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	462			Hemopexin-like 3.		Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.1384T>C	CCDS7647.1																																																																																				0.423	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			75	249	0	0	0	1	0	75	249				
AFF2	2334	broad.mit.edu	37	X	148072854	148072854	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148072854T>G	ENST00000370460.2	+	21	4407	c.3928T>G	c.(3928-3930)Ttg>Gtg	p.L1310V	AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V|AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1310					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CGATGCCCACTTGTTGTAGTG	0.562																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3928-3930)Ttg>Gtg		AF4/FMR2 family, member 2							224.0	148.0	174.0					X																	148072854		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072854T>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3928T>G	X.37:g.148072854T>G	ENSP00000359489:p.Leu1310Val					AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V|AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V	p.L1310V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			21	4407	+	Acute lymphoblastic leukemia(192;6.56e-05)		1310					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3928T>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195460	0.58126	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;D	0.82167	-0.89;-1.16;-1.16;-1.58	5.46	2.74	0.32292	.	0.000000	0.56097	D	0.000021	D	0.86293	0.5898	L	0.47716	1.5	0.42839	D	0.994048	B;P;B;D;D;D	0.89917	0.361;0.526;0.342;1.0;1.0;0.999	B;P;B;D;D;D	0.83275	0.235;0.825;0.367;0.996;0.996;0.991	D	0.85580	0.1239	10	0.66056	D	0.02	.	9.8601	0.41109	0.0:0.1681:0.0:0.8319	.	951;1275;1275;1271;1300;1310	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1310;1275;1277;951	ENSP00000359489:L1310V;ENSP00000359486:L1275V;ENSP00000345459:L1277V;ENSP00000286437:L951V	ENSP00000286437:L951V	L	+	1	2	AFF2	147880560	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	2.860000	0.48372	0.718000	0.32166	-0.330000	0.08379	TTG		0.562	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		164	541	0	0	0	1	0	164	541				
LHFPL5	222662	broad.mit.edu	37	6	35782423	35782423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782423C>T	ENST00000373853.1	+	2	891	c.513C>T	c.(511-513)ggC>ggT	p.G171G	LHFPL5_ENST00000360215.1_Silent_p.G171G|LHFPL5_ENST00000496656.1_3'UTR			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	171					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACACGCTGGGCCACTGCACCA	0.622																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(511-513)ggC>ggT		lipoma HMGIC fusion partner-like 5							181.0	111.0	135.0					6																	35782423		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35782423C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.513C>T	6.37:g.35782423C>T						LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000373853.1_Silent_p.G171G	p.G171G	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			2	890	+			171					B3KX66	Silent	SNP	ENST00000373853.1	37	c.513C>T	CCDS4812.1																																																																																				0.622	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		57	303	0	0	0	1	0	57	303				
TMPRSS3	64699	broad.mit.edu	37	21	43796726	43796726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43796726C>A	ENST00000291532.3	-	11	2073	c.1118G>T	c.(1117-1119)aGg>aTg	p.R373M	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	373	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012). {ECO:0000305}.	cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTACACGTCCCTGTGGTTGCA	0.627																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(1117-1119)aGg>aTg		transmembrane protease, serine 3							185.0	165.0	172.0					21																	43796726		2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43796726C>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1118G>T	21.37:g.43796726C>A	ENSP00000291532:p.Arg373Met					TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M	p.R373M	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			11	2073	-			373	ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).		Peptidase S1.		D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.1118G>T	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720711	0.68959	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.94	3.84	0.44239	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.135322	0.48286	D	0.000181	D	0.88228	0.6380	L	0.39085	1.19	0.28890	N	0.893885	P;P;D	0.55800	0.928;0.916;0.973	P;P;P	0.56960	0.667;0.726;0.81	T	0.82323	-0.0514	9	.	.	.	.	10.8134	0.46559	0.0:0.8328:0.0:0.1672	.	372;373;370	P57727-5;P57727;B7WPR2	.;TMPS3_HUMAN;.	M	373;372;370;457	ENSP00000291532:R373M;ENSP00000411013:R372M;ENSP00000381442:R370M;ENSP00000369762:R457M	.	R	-	2	0	TMPRSS3	42669795	0.972000	0.33761	1.000000	0.80357	0.953000	0.61014	2.005000	0.40864	2.269000	0.75478	0.591000	0.81541	AGG		0.627	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			224	762	1	0	9.29173e-92	1	1.19331e-91	224	762				
CTPS1	1503	broad.mit.edu	37	1	41474522	41474522	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41474522A>C	ENST00000372621.4	+	16	2014	c.1506A>C	c.(1504-1506)caA>caC	p.Q502H	CTPS1_ENST00000372616.1_Missense_Mutation_p.Q502H|CTPS1_ENST00000541520.1_Missense_Mutation_p.Q271H	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TTGTTGGCCAAGATGTTGAAG	0.393																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1504-1506)caA>caC		CTP synthase 1	L-Glutamine(DB00130)						137.0	137.0	137.0					1																	41474522		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41474522A>C	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1506A>C	1.37:g.41474522A>C	ENSP00000361704:p.Gln502His					CTPS1_ENST00000372616.1_Missense_Mutation_p.Q502H|CTPS1_ENST00000541520.1_Missense_Mutation_p.Q271H	p.Q502H	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			16	2014	+			502			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1506A>C	CCDS459.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823330	0.32237	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	D;D;D	0.89485	-2.52;-2.52;-2.52	5.08	-0.101	0.13618	Glutamine amidotransferase type 1 (2);	0.108809	0.64402	D	0.000004	T	0.74801	0.3764	N	0.12853	0.265	0.51482	D	0.999922	B	0.06786	0.001	B	0.08055	0.003	T	0.57219	-0.7849	10	0.27082	T	0.32	.	9.0008	0.36081	0.5741:0.0:0.4259:0.0	.	502	P17812	PYRG1_HUMAN	H	502;271;502	ENSP00000361704:Q502H;ENSP00000442646:Q271H;ENSP00000361699:Q502H	ENSP00000361699:Q502H	Q	+	3	2	CTPS	41247109	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	0.465000	0.22004	-0.209000	0.10156	-0.290000	0.09829	CAA		0.393	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		142	490	0	0	0	1	0	142	490				
PAPSS2	9060	broad.mit.edu	37	10	89473032	89473032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89473032G>A	ENST00000361175.4	+	3	715	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	116					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGCTGGTCTGGTCTGCATTAC	0.448																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(346-348)Gtc>Atc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							98.0	91.0	93.0					10																	89473032		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89473032G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.346G>A	10.37:g.89473032G>A	ENSP00000354436:p.Val116Ile					PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I|PAPSS2_ENST00000482258.1_3'UTR	p.V116I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	3	715	+		Melanoma(5;0.019)|Colorectal(252;0.123)	116					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.346G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341184	0.24339	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.74842	-0.88;-0.88;-0.88	5.78	1.9	0.25705	Adenylylsulphate kinase, C-terminal (3);	0.167857	0.52532	N	0.000075	T	0.47820	0.1466	N	0.04959	-0.14	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.002	T	0.23226	-1.0194	10	0.08599	T	0.76	-13.2731	10.4387	0.44452	0.2627:0.0:0.7373:0.0	.	116;116	O95340;O95340-2	PAPS2_HUMAN;.	I	116;116;120;115	ENSP00000354436:V116I;ENSP00000406157:V116I;ENSP00000397123:V120I	ENSP00000354436:V116I	V	+	1	0	PAPSS2	89463012	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	3.235000	0.51328	0.097000	0.17492	0.591000	0.81541	GTC		0.448	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			69	333	0	0	0	1	0	69	333				
RABEP1	9135	broad.mit.edu	37	17	5284791	5284791	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5284791G>A	ENST00000546142.2	+	17	2665	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	RABEP1_ENST00000262477.6_Silent_p.Q826Q|RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000408982.2_Silent_p.Q793Q|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Silent_p.Q783Q			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	826					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCTTTCACAGACCCTTCAGG	0.458																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(2476-2478)caG>caA		rabaptin, RAB GTPase binding effector protein 1							86.0	87.0	87.0					17																	5284791		1897	4123	6020	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5284791G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2478G>A	17.37:g.5284791G>A						RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000546142.2_Silent_p.Q826Q|RABEP1_ENST00000408982.2_Silent_p.Q793Q|RABEP1_ENST00000537505.1_Silent_p.Q783Q|NUP88_ENST00000573169.1_Intron	p.Q826Q	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			17	2702	+			826					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.2478G>A	CCDS45592.1																																																																																				0.458	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		46	236	0	0	0	1	0	46	236				
HMGCS2	3158	broad.mit.edu	37	1	120295298	120295298	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120295298C>T	ENST00000369406.3	-	8	1344		c.e8-1		HMGCS2_ENST00000544913.2_Splice_Site|HMGCS2_ENST00000476640.1_5'Flank	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)						cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGGGGAGAGCCTGGGAAGCAA	0.478																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.e8-1		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							111.0	111.0	111.0					1																	120295298		2203	4300	6503	SO:0001630	splice_region_variant	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120295298C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1295-1G>A	1.37:g.120295298C>T						HMGCS2_ENST00000544913.2_Splice_Site		NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	8	1344	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)						B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Splice_Site	SNP	ENST00000369406.3	37		CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047514	0.55110	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	.	.	.	5.43	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2131	0.59836	0.0:0.9223:0.0:0.0777	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCS2	120096821	1.000000	0.71417	0.997000	0.53966	0.712000	0.41017	5.072000	0.64389	1.416000	0.47057	0.655000	0.94253	.		0.478	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518	Intron	74	354	0	0	0	1	0	74	354				
TTN	7273	broad.mit.edu	37	2	179434671	179434671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179434671G>T	ENST00000591111.1	-	276	71489	c.71265C>A	c.(71263-71265)taC>taA	p.Y23755*	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y25396*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23755	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AAGCCTTTTGGTAAGCAGAAG	0.433																																						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.(76186-76188)taC>taA		titin							111.0	105.0	106.0					2																	179434671		1874	4104	5978	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434671G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71265C>A	2.37:g.179434671G>T	ENSP00000465570:p.Tyr23755*					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y23755*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.Y25396*	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)		326	76412	-			23755			Fibronectin type-III 84.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.76188C>A		.	.	.	.	.	.	.	.	.	.	G	63	75.056652	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.03	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4014	0.16299	0.2655:0.0:0.6036:0.1309	.	.	.	.	X	22828;16331;16523;16456;16329	.	ENSP00000340554:Y16523X	Y	-	3	2	TTN	179142917	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.980000	0.49321	0.422000	0.26005	0.655000	0.94253	TAC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	243	1	0	2.00842e-17	1	2.21757e-17	45	243				
LOC644669	644669	broad.mit.edu	37	18	15316640	15316640	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:15316640A>C	ENST00000455308.2	-	0	783					NR_027417.1																						TACAGGCTAAAATCTTTGAAG	0.398																																						ENST00000455308.2																			0																																																			0							g.chr18:15316640A>C																													18.37:g.15316640A>C								NR_027417.1						0	783	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.398	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			4	22	0	0	0	1	0	4	22				
CD97	976	broad.mit.edu	37	19	14501839	14501839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14501839G>A	ENST00000242786.5	+	4	374	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CD97_ENST00000358600.3_Silent_p.E98E|CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000587728.1_3'UTR	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	98	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGGATATGAGCCTGTTTCTG	0.527																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(292-294)gaG>gaA		CD97 molecule							171.0	138.0	149.0					19																	14501839		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14501839G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.294G>A	19.37:g.14501839G>A						CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000358600.3_Silent_p.E98E|CD97_ENST00000587728.1_3'UTR	p.E98E	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			4	374	+			98			EGF-like 2; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.294G>A	CCDS32929.1																																																																																				0.527	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		57	364	0	0	0	1	0	57	364				
ROPN1	54763	broad.mit.edu	37	3	123699239	123699239	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123699239C>T	ENST00000184183.4	-	3	430	c.90G>A	c.(88-90)ccG>ccA	p.P30P	ROPN1_ENST00000479867.1_Silent_p.P30P|ROPN1_ENST00000484329.1_Silent_p.P30P|ROPN1_ENST00000405845.3_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000495093.1_Silent_p.P30P	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	30	RIIa.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TGAGGTCCTGCGGCTGCACCC	0.592																																						ENST00000479867.1																			0				lung(2)|ovary(1)|skin(1)	4						c.(88-90)ccG>ccA		rhophilin associated tail protein 1																																				SO:0001819	synonymous_variant	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123699239C>T	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.90G>A	3.37:g.123699239C>T						ROPN1_ENST00000484329.1_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000405845.3_Silent_p.P30P|ROPN1_ENST00000495093.1_Silent_p.P30P|ROPN1_ENST00000184183.4_Silent_p.P30P	p.P30P			Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	2	338	-			30			RIIa.		D3DN99|Q9UF38	Silent	SNP	ENST00000184183.4	37	c.90G>A	CCDS3026.1																																																																																				0.592	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		11	425	0	0	0	1	0	11	425				
CCNK	8812	broad.mit.edu	37	14	99976659	99976659	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99976659A>G	ENST00000389879.5	+	11	1406	c.1283A>G	c.(1282-1284)tAc>tGc	p.Y428C	RP11-688G15.3_ENST00000557733.1_RNA|CCNK_ENST00000555049.1_Intron	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	428					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCCTCCAGCTACATGACCGGG	0.682																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(1282-1284)tAc>tGc		cyclin K							16.0	17.0	17.0					14																	99976659		1839	4080	5919	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99976659A>G	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1283A>G	14.37:g.99976659A>G	ENSP00000374529:p.Tyr428Cys					CCNK_ENST00000555049.1_Intron	p.Y428C	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			11	1406	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	428					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.1283A>G	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294859	0.23564	.	.	ENSG00000090061	ENST00000437596;ENST00000389879	T	0.21932	1.98	3.96	3.96	0.45880	.	0.313205	0.31031	N	0.008392	T	0.24624	0.0597	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.56042	0.79	T	0.02365	-1.1170	10	0.44086	T	0.13	-6.2002	13.0066	0.58707	1.0:0.0:0.0:0.0	.	428	O75909	CCNK_HUMAN	C	448;428	ENSP00000374529:Y428C	ENSP00000374529:Y428C	Y	+	2	0	CCNK	99046412	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	8.145000	0.89625	1.665000	0.50811	0.397000	0.26171	TAC		0.682	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			5	44	0	0	0	1	0	5	44				
FNDC3A	22862	broad.mit.edu	37	13	49772216	49772216	+	Silent	SNP	C	C	T	rs376708332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49772216C>T	ENST00000492622.2	+	22	2894	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	FNDC3A_ENST00000398316.3_Silent_p.S807S|FNDC3A_ENST00000541916.1_Silent_p.S863S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	863	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGAAATAAGCGATGATGAGA	0.468																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2587-2589)agC>agT		fibronectin type III domain containing 3A		C	,	0,4406		0,0,2203	126.0	117.0	120.0		2589,2421	2.0	1.0	13		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FNDC3A	NM_001079673.1,NM_014923.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	863/1199,807/1143	49772216	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49772216C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2589C>T	13.37:g.49772216C>T						FNDC3A_ENST00000541916.1_Silent_p.S863S|FNDC3A_ENST00000398316.3_Silent_p.S807S	p.S863S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	22	2894	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	863			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.2589C>T	CCDS41886.1																																																																																				0.468	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		79	432	0	0	0	1	0	79	432				
AFF3	3899	broad.mit.edu	37	2	100453987	100453987	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100453987C>A	ENST00000409236.2	-	6	986		c.e6-1		AFF3_ENST00000317233.4_Splice_Site|AFF3_ENST00000409579.1_Splice_Site|AFF3_ENST00000356421.2_Splice_Site			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATCTACTCTCCTGAAAGCAAA	0.368																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.e7-1		AF4/FMR2 family, member 3							63.0	66.0	65.0					2																	100453987		2202	4300	6502	SO:0001630	splice_region_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100453987C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.874-1G>T	2.37:g.100453987C>A						AFF3_ENST00000409579.1_Splice_Site|AFF3_ENST00000409236.1_Splice_Site|AFF3_ENST00000356421.2_Splice_Site		NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			7	1109	-								B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37		CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561482	0.65538	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.787	0.57512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFF3	99820419	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.194000	0.58393	2.450000	0.82876	0.650000	0.86243	.		0.368	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	Intron	23	308	1	0	1.85244e-09	1	1.95034e-09	23	308				
HECW2	57520	broad.mit.edu	37	2	197157417	197157417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197157417G>A	ENST00000260983.3	-	14	3054	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.R602W	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	958	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGTCCCTCCGGACTTTGGTG	0.493																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2872-2874)Cgg>Tgg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							129.0	103.0	112.0					2																	197157417		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197157417G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2872C>T	2.37:g.197157417G>A	ENSP00000260983:p.Arg958Trp					HECW2_ENST00000409111.1_Missense_Mutation_p.R602W	p.R958W	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			14	3054	-			958			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2872C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771237	0.90108	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85339	-1.97;-1.97	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91818	0.5465	10	0.87932	D	0	.	18.5859	0.91189	0.0:0.0:1.0:0.0	.	958	Q9P2P5	HECW2_HUMAN	W	602;958	ENSP00000386775:R602W;ENSP00000260983:R958W	ENSP00000260983:R958W	R	-	1	2	HECW2	196865662	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.238000	0.95380	2.617000	0.88574	0.655000	0.94253	CGG		0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		50	254	0	0	0	1	0	50	254				
MAGI1	9223	broad.mit.edu	37	3	65479270	65479270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65479270C>T	ENST00000497477.2	-	3	466	c.467G>A	c.(466-468)gGc>gAc	p.G156D	MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D|MAGI1_ENST00000330909.8_Missense_Mutation_p.G156D|MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	156	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATAGTCCACGCCAGGCACTTC	0.478																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(466-468)gGc>gAc		membrane associated guanylate kinase, WW and PDZ domain containing 1							81.0	74.0	77.0					3																	65479270		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65479270C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.467G>A	3.37:g.65479270C>T	ENSP00000424369:p.Gly156Asp					MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000497477.2_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D	p.G156D	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	3	466	-		Lung NSC(201;0.0016)	156			Guanylate kinase-like.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.467G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.007034|5.007034	0.93287|0.93287	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477	.|T;T;T;T;T	.|0.76968	.|-1.06;-1.06;-1.06;-1.06;-1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90631|0.90631	0.7062|0.7062	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|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;0.995;1.0;1.0;1.0	D|D	0.91138|0.91138	0.4943|0.4943	5|10	.|0.66056	.|D	.|0.02	-22.1782|-22.1782	20.2552|20.2552	0.98417|0.98417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;156;156;156;156;156	.|Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;MAGI1_HUMAN;.;.;.;.	T|D	37|156;156;52;31;156;156	.|ENSP00000385450:G156D;ENSP00000331157:G156D;ENSP00000418177:G31D;ENSP00000420323:G156D;ENSP00000424369:G156D	.|ENSP00000331157:G156D	A|G	-|-	1|2	0|0	MAGI1|MAGI1	65454310|65454310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.089000|6.089000	0.71384|0.71384	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GCG|GGC		0.478	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		26	219	0	0	0	1	0	26	219				
C17orf80	55028	broad.mit.edu	37	17	71232062	71232062	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232062T>C	ENST00000535032.2	+	2	554	c.441T>C	c.(439-441)tcT>tcC	p.S147S	C17orf80_ENST00000255557.4_Silent_p.S147S|C17orf80_ENST00000359042.2_Silent_p.S147S|C17orf80_ENST00000577615.1_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	147						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGAAAACCTCTCCTAAAAGAG	0.388																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(439-441)tcT>tcC		chromosome 17 open reading frame 80							77.0	81.0	80.0					17																	71232062		2202	4299	6501	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71232062T>C	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.441T>C	17.37:g.71232062T>C						C17orf80_ENST00000535032.2_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S|C17orf80_ENST00000577615.1_Silent_p.S147S|C17orf80_ENST00000268942.8_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Silent_p.S147S	p.S147S	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	635	+			147					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.441T>C	CCDS11694.1																																																																																				0.388	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		92	420	0	0	0	1	0	92	420				
EFEMP1	2202	broad.mit.edu	37	2	56094228	56094228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094228C>T	ENST00000394555.2	-	11	1897	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M|EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	488	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGGCCCCACTATTATTGTC	0.383																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1462-1464)Gtg>Atg		EGF containing fibulin-like extracellular matrix protein 1							132.0	121.0	125.0					2																	56094228		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56094228C>T	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1462G>A	2.37:g.56094228C>T	ENSP00000378058:p.Val488Met					EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M	p.V488M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		11	1897	-			488			Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.1462G>A	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408195	0.83340	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.88818	-2.43;-2.43;-1.95;-2.43	5.27	5.27	0.74061	.	0.000000	0.53938	D	0.000053	D	0.94241	0.8151	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.94553	0.7755	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	350;488	B4DW75;Q12805	.;FBLN3_HUMAN	M	488;488;344;350;488	ENSP00000378058:V488M;ENSP00000378057:V488M;ENSP00000399145:V350M;ENSP00000347596:V488M	ENSP00000347596:V488M	V	-	1	0	EFEMP1	55947732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.623000	0.88846	0.585000	0.79938	GTG		0.383	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			139	453	0	0	0	1	0	139	453				
VSIG4	11326	broad.mit.edu	37	X	65253408	65253408	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65253408T>G	ENST00000374737.4	-	2	428	c.320A>C	c.(319-321)gAc>gCc	p.D107A	VSIG4_ENST00000455586.2_Missense_Mutation_p.D107A|VSIG4_ENST00000412866.2_Missense_Mutation_p.D107A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	107	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGGCTCCGGTCATCCATCTC	0.542																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(319-321)gAc>gCc		V-set and immunoglobulin domain containing 4							137.0	118.0	125.0					X																	65253408		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253408T>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.320A>C	X.37:g.65253408T>G	ENSP00000363869:p.Asp107Ala					VSIG4_ENST00000374737.4_Missense_Mutation_p.D107A|VSIG4_ENST00000412866.2_Missense_Mutation_p.D107A	p.D107A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			2	446	-			107			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.320A>C	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.65|15.65	2.897185|2.897185	0.52121|0.52121	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866|ENST00000427538	D;D;D|.	0.88046|.	-2.33;-2.33;-2.33|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|.	0.73257|.	0.3564|.	M|M	0.81802|0.81802	2.56|2.56	0.39632|0.39632	D|D	0.970198|0.970198	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;1.0;1.0;1.0|.	T|.	0.76179|.	-0.3054|.	10|.	0.72032|.	D|.	0.01|.	-21.8408|-21.8408	9.9597|9.9597	0.41688|0.41688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	107;107;97;107;107|.	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279|.	.;.;.;.;VSIG4_HUMAN|.	A|C	107|33	ENSP00000363869:D107A;ENSP00000411581:D107A;ENSP00000394143:D107A|.	ENSP00000363869:D107A|.	D|X	-|-	2|3	0|0	VSIG4|VSIG4	65170133|65170133	0.997000|0.997000	0.39634|0.39634	0.864000|0.864000	0.33941|0.33941	0.435000|0.435000	0.31806|0.31806	3.569000|3.569000	0.53827|0.53827	1.614000|1.614000	0.50241|0.50241	0.481000|0.481000	0.45027|0.45027	GAC|TGA		0.542	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		14	730	0	0	0	1	0	14	730				
MATN1	4146	broad.mit.edu	37	1	31189685	31189685	+	Missense_Mutation	SNP	C	C	T	rs373848420		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31189685C>T	ENST00000373765.4	-	4	777	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	248	EGF-like.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A248T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGCAGGCGCAGGTGTAG	0.622																																						ENST00000373765.4																			1	Substitution - Missense(1)	p.A248T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(742-744)Gcc>Acc		matrilin 1, cartilage matrix protein		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	59.0	64.0		742	1.8	0.8	1		64	0,8600		0,0,4300	no	missense	MATN1	NM_002379.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	248/497	31189685	1,13005	2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31189685C>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.742G>A	1.37:g.31189685C>T	ENSP00000362870:p.Ala248Thr					MATN1_ENST00000477320.1_5'UTR	p.A248T	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	4	777	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	248			EGF-like.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.742G>A	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238134	0.22711	2.27E-4	0.0	ENSG00000162510	ENST00000373765	D	0.85955	-2.05	5.12	1.76	0.24704	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	.	.	.	.	T	0.67655	0.2916	N	0.05487	-0.04	0.54753	D	0.999981	B;B	0.15930	0.006;0.015	B;B	0.13407	0.009;0.009	T	0.54583	-0.8272	9	0.17369	T	0.5	-18.6134	10.4414	0.44469	0.2488:0.6811:0.0:0.0701	.	232;248	A3KMG0;P21941	.;MATN1_HUMAN	T	248	ENSP00000362870:A248T	ENSP00000362870:A248T	A	-	1	0	MATN1	30962272	0.999000	0.42202	0.813000	0.32504	0.620000	0.37586	4.002000	0.57053	0.530000	0.28619	-0.181000	0.13052	GCC		0.622	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		23	106	0	0	0	1	0	23	106				
PLCG2	5336	broad.mit.edu	37	16	81944315	81944315	+	Missense_Mutation	SNP	G	G	A	rs367884906		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81944315G>A	ENST00000359376.3	+	18	2138	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	642					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAACCCCCACGAGTCCAAGCC	0.667																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1924-1926)Gag>Aag		phospholipase C, gamma 2 (phosphatidylinositol-specific)		G	LYS/GLU	1,4155		0,1,2077	83.0	92.0	89.0		1924	5.0	1.0	16		89	0,8422		0,0,4211	no	missense	PLCG2	NM_002661.3	56	0,1,6288	AA,AG,GG		0.0,0.0241,0.0080	possibly-damaging	642/1266	81944315	1,12577	2078	4211	6289	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944315G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1924G>A	16.37:g.81944315G>A	ENSP00000352336:p.Glu642Lys						p.E642K	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			18	2138	+			642					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1924G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450329	0.63290	2.41E-4	0.0	ENSG00000197943	ENST00000359376	D	0.93019	-3.15	4.97	4.97	0.65823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (1);	0.194915	0.45867	D	0.000333	D	0.93383	0.7890	L	0.59436	1.845	0.43863	D	0.996463	D;P	0.64830	0.994;0.888	P;B	0.51487	0.671;0.073	D	0.93177	0.6571	10	0.49607	T	0.09	.	13.2269	0.59919	0.0:0.0:0.841:0.159	.	509;642	B4E3H3;P16885	.;PLCG2_HUMAN	K	642	ENSP00000352336:E642K	ENSP00000352336:E642K	E	+	1	0	PLCG2	80501816	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.682000	0.61671	2.320000	0.78422	0.491000	0.48974	GAG		0.667	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			219	1008	0	0	0	1	0	219	1008				
ZFPM1	161882	broad.mit.edu	37	16	88600853	88600853	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88600853C>T	ENST00000319555.3	+	10	2809	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	829					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCACAGCCTCGAGGCCTACC	0.756																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2485-2487)ctC>ctT		zinc finger protein, FOG family member 1							4.0	5.0	5.0					16																	88600853		1615	3521	5136	SO:0001819	synonymous_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88600853C>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2487C>T	16.37:g.88600853C>T							p.L829L	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	2809	+			829						Silent	SNP	ENST00000319555.3	37	c.2487C>T	CCDS32502.1																																																																																				0.756	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			8	56	0	0	0	1	0	8	56				
ZNF839	55778	broad.mit.edu	37	14	102792469	102792469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102792469G>A	ENST00000558850.1	+	2	438	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T|ZNF839_ENST00000262236.5_Missense_Mutation_p.A30T|ZNF839_ENST00000442396.2_Missense_Mutation_p.A146T	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	30							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCCATATCGCCAGCCCTCA	0.582																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(88-90)Gcc>Acc		zinc finger protein 839							39.0	45.0	43.0					14																	102792469		1944	4155	6099	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792469G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.88G>A	14.37:g.102792469G>A	ENSP00000453363:p.Ala30Thr					ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T|ZNF839_ENST00000558850.1_Missense_Mutation_p.A30T|ZNF839_ENST00000442396.2_Missense_Mutation_p.A146T	p.A30T	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			2	443	+			30					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.88G>A	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	0.364	-0.937686	0.02340	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.42131	0.98;0.98	4.26	-6.21	0.02065	.	.	.	.	.	T	0.18551	0.0445	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.048;0.102;0.102	B;B;B	0.19148	0.011;0.013;0.024	T	0.20140	-1.0284	9	0.16896	T	0.51	.	3.8425	0.08920	0.5386:0.1098:0.2406:0.111	.	146;30;30	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	T	146;30	ENSP00000399863:A146T;ENSP00000262236:A30T	ENSP00000262236:A30T	A	+	1	0	ZNF839	101862222	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.652000	0.05366	-1.733000	0.01357	-1.060000	0.02296	GCC		0.582	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		36	153	0	0	0	1	0	36	153				
SNRK	54861	broad.mit.edu	37	3	43389079	43389079	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43389079T>G	ENST00000296088.7	+	7	1632	c.1328T>G	c.(1327-1329)tTc>tGc	p.F443C	SNRK_ENST00000437827.1_Missense_Mutation_p.F237C|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.F443C|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AAGTGTCTGTTCAGGGTGGAA	0.537																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(1327-1329)tTc>tGc		SNF related kinase							97.0	106.0	103.0					3																	43389079		2011	4186	6197	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43389079T>G	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1328T>G	3.37:g.43389079T>G	ENSP00000296088:p.Phe443Cys					SNRK_ENST00000429705.2_Missense_Mutation_p.F443C|SNRK_ENST00000437827.1_Missense_Mutation_p.F237C|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C|RP11-188P20.3_ENST00000607513.1_RNA	p.F443C	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	7	1632	+			443						Missense_Mutation	SNP	ENST00000296088.7	37	c.1328T>G	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423784	0.62733	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.68479	-0.33;-0.33;-0.33;2.39	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.44542	1.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.68192	0.956	T	0.73751	-0.3884	10	0.39692	T	0.17	.	14.3828	0.66923	0.0:0.0:0.0:1.0	.	443	Q9NRH2	SNRK_HUMAN	C	443;443;443;237	ENSP00000401246:F443C;ENSP00000411375:F443C;ENSP00000296088:F443C;ENSP00000409516:F237C	ENSP00000296088:F443C	F	+	2	0	SNRK	43364083	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.685000	0.68204	1.867000	0.54127	0.460000	0.39030	TTC		0.537	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		43	149	0	0	0	1	0	43	149				
GABRA4	2557	broad.mit.edu	37	4	46930511	46930511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930511G>A	ENST00000264318.3	-	9	2378	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	466					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GAAGCCTTTCGAGGCATATAT	0.468																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1396-1398)Cga>Tga		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111.0	102.0	105.0					4																	46930511		2203	4300	6503	SO:0001587	stop_gained	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930511G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1396C>T	4.37:g.46930511G>A	ENSP00000264318:p.Arg466*						p.R466*	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2378	-			466					Q8IYR7	Nonsense_Mutation	SNP	ENST00000264318.3	37	c.1396C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	40	8.322356	0.98759	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.64	0.869	0.19096	.	35.111300	0.00166	N	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3934	0.32542	0.0733:0.0:0.4515:0.4752	.	.	.	.	X	466	.	ENSP00000264318:R466X	R	-	1	2	GABRA4	46625268	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.507000	0.22675	0.036000	0.15547	-0.175000	0.13238	CGA		0.468	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			38	377	0	0	0	1	0	38	377				
UBE2E3	10477	broad.mit.edu	37	2	181846774	181846774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:181846774C>T	ENST00000410062.4	+	2	398	c.5C>T	c.(4-6)tCc>tTc	p.S2F	UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|AC104076.3_ENST00000428080.1_RNA|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	2					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ACCAAGATGTCCAGTGATAGG	0.478																																						ENST00000410062.4																			0				breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						c.(4-6)tCc>tTc		ubiquitin-conjugating enzyme E2E 3							41.0	49.0	46.0					2																	181846774		2203	4300	6503	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181846774C>T	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.5C>T	2.37:g.181846774C>T	ENSP00000386788:p.Ser2Phe					UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F	p.S2F	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN			2	398	+			2					B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.5C>T	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866090	0.71949	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000409513;ENST00000426294;ENST00000409247;ENST00000409596	T;T	0.66995	-0.24;-0.24	5.15	3.33	0.38152	.	0.084010	0.51477	D	0.000093	T	0.65396	0.2687	L	0.54323	1.7	0.58432	D	0.999996	B	0.27229	0.172	B	0.37387	0.248	T	0.65043	-0.6264	10	0.87932	D	0	.	10.7273	0.46077	0.0:0.7957:0.1325:0.0718	.	2	Q969T4	UB2E3_HUMAN	F	2	ENSP00000376215:S2F;ENSP00000386788:S2F	ENSP00000376215:S2F	S	+	2	0	UBE2E3	181555019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.246000	0.78247	0.668000	0.31126	-0.175000	0.13238	TCC		0.478	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		68	262	0	0	0	1	0	68	262				
BTRC	8945	broad.mit.edu	37	10	103285770	103285770	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103285770C>A	ENST00000370187.3	+	6	675	c.557C>A	c.(556-558)gCt>gAt	p.A186D	BTRC_ENST00000393441.4_Splice_Site_p.A145D|BTRC_ENST00000408038.2_Splice_Site_p.A150D	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTACTGAAAGCTCGGGGATTG	0.438																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.e6-1		beta-transducin repeat containing E3 ubiquitin protein ligase							85.0	68.0	74.0					10																	103285770		2203	4300	6503	SO:0001630	splice_region_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103285770C>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.557-1C>A	10.37:g.103285770C>A						BTRC_ENST00000393441.4_Splice_Site_p.A145_splice|BTRC_ENST00000408038.2_Splice_Site_p.A150_splice	p.A186_splice	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	6	675	+		Colorectal(252;0.234)	186					B5MD49|Q5W141|Q5W142|Q9Y213	Splice_Site	SNP	ENST00000370187.3	37	c.556_splice	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967622	0.53507	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.53	5.53	0.82687	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.43757	1.38	0.80722	D	1	B;B;B	0.32350	0.336;0.28;0.366	B;B;B	0.34301	0.084;0.171;0.179	T	0.02156	-1.1204	9	.	.	.	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	160;150;186	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	D	186;145;150;168	ENSP00000359206:A186D;ENSP00000377088:A145D;ENSP00000385339:A150D;ENSP00000359202:A168D	.	A	+	2	0	BTRC	103275760	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.611000	0.88343	0.650000	0.86243	GCT		0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	Missense_Mutation	27	116	1	0	4.7796e-09	1	5.01584e-09	27	116				
SPAG9	9043	broad.mit.edu	37	17	49075897	49075897	+	Silent	SNP	C	C	T	rs527431717	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49075897C>T	ENST00000262013.7	-	15	1954	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPAG9_ENST00000505279.1_Silent_p.T572T|SPAG9_ENST00000357122.4_Silent_p.T568T|SPAG9_ENST00000510283.1_Silent_p.T425T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	582					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TAACATGAGACGTGGGTGCAT	0.443													C|||	4	0.000798722	0.0	0.0	5008	,	,		16629	0.0		0.0	False		,,,				2504	0.0041					ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1744-1746)acG>acA		sperm associated antigen 9							181.0	152.0	162.0					17																	49075897		2203	4300	6503	SO:0001819	synonymous_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49075897C>T	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1746G>A	17.37:g.49075897C>T						SPAG9_ENST00000357122.4_Silent_p.T568T|SPAG9_ENST00000510283.1_Silent_p.T425T|SPAG9_ENST00000505279.1_Silent_p.T572T	p.T582T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		15	1954	-			582					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.1746G>A	CCDS45740.1																																																																																				0.443	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		81	344	0	0	0	1	0	81	344				
FASTKD1	79675	broad.mit.edu	37	2	170428255	170428255	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170428255A>G	ENST00000453153.2	-	2	631	c.285T>C	c.(283-285)caT>caC	p.H95H	FASTKD1_ENST00000453929.2_Silent_p.H95H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	95					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAAATTGAGGATGGTCTCTGA	0.353																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(283-285)caT>caC		FAST kinase domains 1							78.0	74.0	75.0					2																	170428255		2203	4300	6503	SO:0001819	synonymous_variant	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428255A>G	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.285T>C	2.37:g.170428255A>G						FASTKD1_ENST00000453929.2_Silent_p.H95H	p.H95H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			2	631	-			95					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	c.285T>C	CCDS33318.1																																																																																				0.353	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		6	269	0	0	0	1	0	6	269				
ENGASE	64772	broad.mit.edu	37	17	77078194	77078194	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77078194G>A	ENST00000579016.1	+	7	1038				ENGASE_ENST00000539857.2_Missense_Mutation_p.G177R|ENGASE_ENST00000584568.1_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase							cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GCCTCCCCTGGGACCTCATTT	0.592																																						ENST00000539857.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(529-531)Gga>Aga		endo-beta-N-acetylglucosaminidase							46.0	60.0	55.0					17																	77078194		2073	4190	6263	SO:0001627	intron_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77078194G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1038+49G>A	17.37:g.77078194G>A						ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron	p.G177R			Q8NFI3	ENASE_HUMAN			6	944	+			0					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.529G>A	CCDS42394.1																																																																																				0.592	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		6	277	0	0	0	1	0	6	277				
SOBP	55084	broad.mit.edu	37	6	107955419	107955419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955419G>A	ENST00000317357.5	+	6	2030	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCATGCTATCGCCCCACATCC	0.751																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1369-1371)tcG>tcA		sine oculis binding protein homolog (Drosophila)							9.0	11.0	10.0					6																	107955419		1786	3974	5760	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107955419G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1371G>A	6.37:g.107955419G>A							p.S457S	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2030	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	457			Pro-rich.			Silent	SNP	ENST00000317357.5	37	c.1371G>A	CCDS43488.1																																																																																				0.751	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		34	134	0	0	0	1	0	34	134				
COL20A1	57642	broad.mit.edu	37	20	61926468	61926468	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61926468C>T	ENST00000358894.6	+	2	109	c.9C>T	c.(7-9)tcC>tcT	p.S3S	COL20A1_ENST00000435874.1_Silent_p.S3S|COL20A1_ENST00000326996.6_Silent_p.S3S|COL20A1_ENST00000422202.1_Silent_p.S3S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	3					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCATGAGCTCCGGAGACCCTG	0.647																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(7-9)tcC>tcT		collagen, type XX, alpha 1							13.0	17.0	16.0					20																	61926468		1990	4068	6058	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61926468C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.9C>T	20.37:g.61926468C>T						COL20A1_ENST00000326996.6_Silent_p.S3S|COL20A1_ENST00000358894.6_Silent_p.S3S|COL20A1_ENST00000435874.1_Silent_p.S3S	p.S3S			Q9P218	COKA1_HUMAN			1	77	+	all_cancers(38;1.39e-10)		3					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.9C>T	CCDS46628.1																																																																																				0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		3	14	0	0	0	1	0	3	14				
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	rs140188229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1334					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4000-4002)cGt>cAt		neuroblastoma amplified sequence		C	HIS/ARG	0,4406		0,0,2203	179.0	170.0	173.0		4001	5.0	0.3	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1334/2372	15493765	1,13005	2203	4300	6503	SO:0001583	missense	51594							g.chr2:15493765C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4001G>A	2.37:g.15493765C>T	ENSP00000281513:p.Arg1334His					NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	p.R1334H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			34	4026	-			1334					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4001G>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268487|4.268487	0.80469|0.80469	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.33654|.	1.4;1.4|.	5.83|5.83	4.96|4.96	0.65561|0.65561	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.87932|.	D|.	0|.	.|.	14.0714|14.0714	0.64863|0.64863	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	1214;1334|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	1214;1334|382	ENSP00000413201:R1214H;ENSP00000281513:R1334H|.	ENSP00000281513:R1334H|.	R|V	-|-	2|1	0|0	NBAS|NBAS	15411216|15411216	0.998000|0.998000	0.40836|0.40836	0.337000|0.337000	0.25536|0.25536	0.922000|0.922000	0.55478|0.55478	6.351000|6.351000	0.73022|0.73022	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		242	598	0	0	0	1	0	242	598				
LPHN2	23266	broad.mit.edu	37	1	82409048	82409048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82409048G>A	ENST00000370728.1	+	8	1438	c.793G>A	c.(793-795)Gac>Aac	p.D265N	LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N			O95490	LPHN2_HUMAN	latrophilin 2	265	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D265H(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTGATATCGACCTAGCAGT	0.408																																						ENST00000370728.1																			2	Substitution - Missense(2)	p.D265H(2)	lung(2)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(793-795)Gac>Aac		latrophilin 2							142.0	135.0	137.0					1																	82409048		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409048G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.793G>A	1.37:g.82409048G>A	ENSP00000359763:p.Asp265Asn					LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N	p.D265N			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1438	+			265			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.793G>A		.	.	.	.	.	.	.	.	.	.	G	22.7	4.324477	0.81580	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.964;0.988	D	0.97952	1.0332	10	0.87932	D	0	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	265;265;265	O95490-3;O95490-4;O95490-2	.;.;.	N	269;265;265;265;265;265;265;265;265;265;265;265;265;265	ENSP00000359756:D269N;ENSP00000359763:D265N;ENSP00000359765:D265N;ENSP00000359762:D265N;ENSP00000359760:D265N;ENSP00000359758:D265N;ENSP00000353006:D265N;ENSP00000359750:D265N;ENSP00000359748:D265N;ENSP00000322270:D265N;ENSP00000359752:D265N;ENSP00000378344:D265N;ENSP00000271029:D265N;ENSP00000337306:D265N	ENSP00000271029:D265N	D	+	1	0	LPHN2	82181636	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.476000	0.97823	2.591000	0.87537	0.455000	0.32223	GAC		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		99	380	0	0	0	1	0	99	380				
HECTD1	25831	broad.mit.edu	37	14	31647447	31647447	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31647447T>C	ENST00000399332.1	-	3	642	c.154A>G	c.(154-156)Act>Gct	p.T52A	HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	52					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTAAGAAAGTGCGAGGAGGA	0.338																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(154-156)Act>Gct		HECT domain containing E3 ubiquitin protein ligase 1							62.0	58.0	59.0					14																	31647447		1851	4087	5938	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31647447T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.154A>G	14.37:g.31647447T>C	ENSP00000382269:p.Thr52Ala					HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	p.T52A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	3	642	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		52					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.154A>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572636	0.86542	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.33216	1.42;1.42;1.42	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.82323	2.585	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.59590	-0.7426	10	0.42905	T	0.14	-15.7729	15.1789	0.72938	0.0:0.0:0.0:1.0	.	52	Q9ULT8	HECD1_HUMAN	A	52	ENSP00000450697:T52A;ENSP00000382269:T52A;ENSP00000452015:T52A	ENSP00000261312:T52A	T	-	1	0	HECTD1	30717198	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	7.655000	0.83696	2.047000	0.60756	0.397000	0.26171	ACT		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			52	254	0	0	0	1	0	52	254				
ZFP41	286128	broad.mit.edu	37	8	144332465	144332465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144332465C>T	ENST00000330701.4	+	2	821	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V|ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	151					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGCGGGAAAGCCTTTAACTGC	0.587																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(451-453)gCc>gTc		ZFP41 zinc finger protein							110.0	112.0	111.0					8																	144332465		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332465C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.452C>T	8.37:g.144332465C>T	ENSP00000327427:p.Ala151Val					ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V|ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V	p.A151V	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	821	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		151					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.452C>T	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122670	0.56613	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.36340	1.26;1.26;1.26	3.15	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	N	0.16368	0.405	0.09310	N	1	P	0.38551	0.636	B	0.35770	0.21	T	0.10222	-1.0639	9	0.49607	T	0.09	-9.3379	4.4941	0.11828	0.0:0.6351:0.232:0.1329	.	151	Q8N8Y5	ZFP41_HUMAN	V	151	ENSP00000430465:A151V;ENSP00000327427:A151V;ENSP00000428966:A151V	ENSP00000327427:A151V	A	+	2	0	ZFP41	144403840	0.011000	0.17503	0.241000	0.24154	0.960000	0.62799	0.660000	0.25009	0.647000	0.30713	0.467000	0.42956	GCC		0.587	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		130	710	0	0	0	1	0	130	710				
KCNQ5	56479	broad.mit.edu	37	6	73900337	73900337	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73900337C>T	ENST00000370398.1	+	12	1728	c.1619C>T	c.(1618-1620)aCa>aTa	p.T540I	KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.T559I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	540					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTAAGGAAACATTACGTCCA	0.303																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1675-1677)aCa>aTa		potassium voltage-gated channel, KQT-like subfamily, member 5							88.0	78.0	82.0					6																	73900337		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73900337C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1619C>T	6.37:g.73900337C>T	ENSP00000359425:p.Thr540Ile					KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.T540I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I	p.T559I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	13	2074	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	540					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1676C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359449	0.82353	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.02	5.02	0.67125	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.76574	2.34	0.39638	D	0.970273	D;D;P;P;D	0.89917	0.999;1.0;0.954;0.858;1.0	D;D;P;P;D	0.85130	0.931;0.991;0.771;0.661;0.997	D	0.97990	1.0354	10	0.87932	D	0	.	18.3416	0.90307	0.0:1.0:0.0:0.0	.	430;550;559;531;540	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	I	559;559;540;540;550;541;531;430	ENSP00000345055:T559I;ENSP00000347326:T540I;ENSP00000359425:T540I;ENSP00000385501:T550I;ENSP00000347853:T541I;ENSP00000384453:T531I;ENSP00000409861:T430I	ENSP00000345055:T559I	T	+	2	0	KCNQ5	73957058	1.000000	0.71417	0.960000	0.40013	0.742000	0.42306	7.814000	0.86154	2.301000	0.77427	0.643000	0.83706	ACA		0.303	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		24	130	0	0	0	1	0	24	130				
FBXL3	26224	broad.mit.edu	37	13	77595939	77595939	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77595939C>A	ENST00000355619.5	-	2	381	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	19					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCTTGGATTTCTCTGCAGTTC	0.383																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(55-57)gaG>gaT		F-box and leucine-rich repeat protein 3							141.0	152.0	148.0					13																	77595939		2203	4300	6503	SO:0001583	missense	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77595939C>A	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.57G>T	13.37:g.77595939C>A	ENSP00000347834:p.Glu19Asp						p.E19D	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	2	381	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	19					B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	c.57G>T	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133939	0.37630	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.35789	1.45;1.29	5.96	1.71	0.24356	.	0.332847	0.34906	N	0.003593	T	0.13114	0.0318	N	0.08118	0	0.40094	D	0.976287	B	0.02656	0.0	B	0.01281	0.0	T	0.09058	-1.0692	10	0.17369	T	0.5	-17.2596	1.574	0.02621	0.1378:0.3734:0.1359:0.3529	.	19	Q9UKT7	FBXL3_HUMAN	D	19	ENSP00000347834:E19D;ENSP00000412183:E19D	ENSP00000347834:E19D	E	-	3	2	FBXL3	76493940	0.999000	0.42202	0.999000	0.59377	0.931000	0.56810	1.126000	0.31344	0.397000	0.25310	0.655000	0.94253	GAG		0.383	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			142	620	1	0	1.80369e-55	1	2.25446e-55	142	620				
NBEAL2	23218	broad.mit.edu	37	3	47030423	47030423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47030423G>A	ENST00000450053.3	+	3	411	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	78					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGAGCAAGCCCTCCTGCT	0.602																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(232-234)Gcc>Acc		neurobeachin-like 2							48.0	53.0	51.0					3																	47030423		2158	4259	6417	SO:0001583	missense	23218						binding	g.chr3:47030423G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.232G>A	3.37:g.47030423G>A	ENSP00000415034:p.Ala78Thr					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T	p.A78T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	3	411	+		Acute lymphoblastic leukemia(5;0.0534)	78					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.232G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918185	0.33815	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.60040	0.22;0.24	4.07	2.25	0.28309	.	.	.	.	.	T	0.50257	0.1605	M	0.63843	1.955	0.80722	D	1	B;B	0.16603	0.018;0.002	B;B	0.18561	0.022;0.002	T	0.45673	-0.9245	9	0.54805	T	0.06	.	6.2584	0.20887	0.3197:0.0:0.6803:0.0	.	71;78	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	T	78;78;71	ENSP00000292309:A78T;ENSP00000415034:A78T	ENSP00000292309:A78T	A	+	1	0	NBEAL2	47005427	0.380000	0.25131	0.704000	0.30370	0.708000	0.40852	1.522000	0.35921	0.370000	0.24538	0.561000	0.74099	GCC		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		32	186	0	0	0	1	0	32	186				
FERMT3	83706	broad.mit.edu	37	11	63987987	63987987	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63987987G>T	ENST00000279227.5	+	12	1498	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	468	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGCTACACCAGCGAGGTGCAG	0.716																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1402-1404)aGc>aTc		fermitin family member 3							12.0	15.0	14.0					11																	63987987		2184	4270	6454	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63987987G>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1403G>T	11.37:g.63987987G>T	ENSP00000279227:p.Ser468Ile					FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	p.S468I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			12	1498	+			468			FERM.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1403G>T	CCDS8060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944161|0.944161	0.18281|0.18281	.|.	.|.	ENSG00000149781|ENSG00000149781	ENST00000545896|ENST00000345728;ENST00000279227	T|T;T	0.56941|0.71579	0.43|-0.58;-0.58	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Band 4.1 domain (1);FERM central domain (2);	.|0.149940	.|0.64402	.|D	.|0.000020	T|T	0.70456|0.70456	0.3226|0.3226	L|L	0.50333|0.50333	1.59|1.59	0.47245|0.47245	D|D	0.999366|0.999366	.|P;P	.|0.46277	.|0.875;0.753	.|P;P	.|0.48795	.|0.454;0.59	T|T	0.71764|0.71764	-0.4494|-0.4494	7|10	0.49607|0.46703	T|T	0.09|0.11	-27.66|-27.66	12.5477|12.5477	0.56210|0.56210	0.0:0.1693:0.8307:0.0|0.0:0.1693:0.8307:0.0	.|.	.|464;468	.|Q86UX7-2;Q86UX7	.|.;URP2_HUMAN	S|I	27|464;468	ENSP00000440209:A27S|ENSP00000339950:S464I;ENSP00000279227:S468I	ENSP00000440209:A27S|ENSP00000279227:S468I	A|S	+|+	1|2	0|0	FERMT3|FERMT3	63744563|63744563	0.055000|0.055000	0.20627|0.20627	0.983000|0.983000	0.44433|0.44433	0.057000|0.057000	0.15508|0.15508	1.991000|1.991000	0.40727|0.40727	2.395000|2.395000	0.81488|0.81488	0.561000|0.561000	0.74099|0.74099	GCG|AGC		0.716	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		28	87	1	0	2.44723e-14	1	2.65813e-14	28	87				
RIMS2	9699	broad.mit.edu	37	8	104897708	104897708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104897708G>A	ENST00000436393.2	+	2	456	c.215G>A	c.(214-216)aGg>aAg	p.R72K	RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Missense_Mutation_p.R102K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	325	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAGTTATAGGGACTCCAAC	0.408										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(304-306)aGg>aAg		regulating synaptic membrane exocytosis 2							105.0	97.0	99.0					8																	104897708		1884	4109	5993	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897708G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.215G>A	8.37:g.104897708G>A	ENSP00000390665:p.Arg72Lys	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K|RIMS2_ENST00000436393.2_Missense_Mutation_p.R72K	p.R102K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	541	+			325			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.305G>A		.	.	.	.	.	.	.	.	.	.	G	22.9	4.343756	0.82022	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.89;1.87;1.88;1.85;2.27	5.31	5.31	0.75309	.	.	.	.	.	T	0.58906	0.2155	M	0.65975	2.015	0.80722	D	1	P;P;P;D;D	0.63046	0.774;0.921;0.93;0.977;0.992	B;D;P;P;P	0.65233	0.416;0.933;0.712;0.652;0.854	T	0.60801	-0.7191	9	0.59425	D	0.04	.	18.9666	0.92698	0.0:0.0:1.0:0.0	.	325;72;102;102;294	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	K	294;325;294;325;102;102;102;102;72	ENSP00000427018:R294K;ENSP00000384892:R294K;ENSP00000425205:R102K;ENSP00000262231:R102K;ENSP00000423559:R102K;ENSP00000386228:R102K;ENSP00000390665:R72K	ENSP00000262231:R102K	R	+	2	0	RIMS2	104966884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.108000	0.89559	2.474000	0.83562	0.460000	0.39030	AGG		0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		44	325	0	0	0	1	0	44	325				
ZNF516	9658	broad.mit.edu	37	18	74091857	74091857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091857C>T	ENST00000443185.2	-	4	2530	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCGCGTCGACCTCGCACTTAA	0.592																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2212-2214)aGg>aAg		zinc finger protein 516							50.0	54.0	52.0					18																	74091857		2017	4172	6189	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091857C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2213G>A	18.37:g.74091857C>T	ENSP00000394757:p.Arg738Lys					ZNF516_ENST00000524431.2_5'UTR	p.R738K	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2530	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	738						Missense_Mutation	SNP	ENST00000443185.2	37	c.2213G>A		.	.	.	.	.	.	.	.	.	.	C	0.392	-0.922902	0.02377	.	.	ENSG00000101493	ENST00000443185	T	0.09073	3.02	4.55	0.168	0.15012	.	0.745817	0.12140	N	0.495931	T	0.02455	0.0075	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	9	0.02654	T	1	-16.5927	2.3624	0.04310	0.4105:0.3026:0.0:0.2869	.	738	Q92618	ZN516_HUMAN	K	738	ENSP00000394757:R738K	ENSP00000394757:R738K	R	-	2	0	ZNF516	72220845	0.817000	0.29147	0.010000	0.14722	0.004000	0.04260	1.027000	0.30115	0.122000	0.18314	0.655000	0.94253	AGG		0.592	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		34	179	0	0	0	1	0	34	179				
AADACL4	343066	broad.mit.edu	37	1	12726682	12726682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726682C>T	ENST00000376221.1	+	4	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	387						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATAAGAAGGCTCTCTCTTTC	0.478																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1159-1161)gCt>gTt		arylacetamide deacetylase-like 4							65.0	71.0	69.0					1																	12726682		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726682C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1160C>T	1.37:g.12726682C>T	ENSP00000365395:p.Ala387Val						p.A387V	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1160	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	387						Missense_Mutation	SNP	ENST00000376221.1	37	c.1160C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	4.428	0.079249	0.08533	.	.	ENSG00000204518	ENST00000376221	T	0.04234	3.67	4.53	-9.05	0.00730	.	1.865950	0.02502	N	0.090580	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36553	-0.9743	10	0.17369	T	0.5	12.6824	3.0524	0.06173	0.1666:0.3435:0.341:0.1489	.	387	Q5VUY2	ADCL4_HUMAN	V	387	ENSP00000365395:A387V	ENSP00000365395:A387V	A	+	2	0	AADACL4	12649269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.630000	0.00032	-3.514000	0.00149	-0.882000	0.02950	GCT		0.478	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		54	494	0	0	0	1	0	54	494				
DPYSL5	56896	broad.mit.edu	37	2	27154526	27154526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27154526C>T	ENST00000288699.6	+	6	846	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	230					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGCCACTCATCGTGTTAT	0.502																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(688-690)Cat>Tat		dihydropyrimidinase-like 5							221.0	190.0	200.0					2																	27154526		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27154526C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.688C>T	2.37:g.27154526C>T	ENSP00000288699:p.His230Tyr					DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			6	846	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		230					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.688C>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267448	0.40095	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89746	-2.56;-2.56	6.08	6.08	0.98989	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	N	0.20483	0.58	0.54753	D	0.999989	B	0.13594	0.008	B	0.20577	0.03	T	0.74819	-0.3535	10	0.05351	T	0.99	-23.087	19.4436	0.94836	0.0:1.0:0.0:0.0	.	230	Q9BPU6	DPYL5_HUMAN	Y	230	ENSP00000288699:H230Y;ENSP00000385549:H230Y	ENSP00000288699:H230Y	H	+	1	0	DPYSL5	27008030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.894000	0.99253	0.591000	0.81541	CAT		0.502	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		80	243	0	0	0	1	0	80	243				
CCNE1	898	broad.mit.edu	37	19	30313366	30313366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313366C>T	ENST00000262643.3	+	11	1245	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_ENST00000357943.5_Silent_p.C279C|CCNE1_ENST00000444983.2_Silent_p.C307C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	322					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCAGTGGTGCGACATAGAGA	0.498			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(964-966)tgC>tgT		cyclin E1							174.0	145.0	155.0					19																	30313366		2203	4300	6503	SO:0001819	synonymous_variant	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30313366C>T	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.966C>T	19.37:g.30313366C>T						CCNE1_ENST00000357943.5_Silent_p.C279C|CCNE1_ENST00000444983.2_Silent_p.C307C	p.C322C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		11	1245	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		322					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	ENST00000262643.3	37	c.966C>T	CCDS12419.1																																																																																				0.498	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		117	500	0	0	0	1	0	117	500				
TRRAP	8295	broad.mit.edu	37	7	98588118	98588118	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98588118T>C	ENST00000359863.4	+	63	9853	c.9644T>C	c.(9643-9645)tTg>tCg	p.L3215S	TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000446306.3_Missense_Mutation_p.L3186S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3215	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAACACTTTGGCAGATGCC	0.507																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9643-9645)tTg>tCg		transformation/transcription domain-associated protein							111.0	102.0	105.0					7																	98588118		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98588118T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9644T>C	7.37:g.98588118T>C	ENSP00000352925:p.Leu3215Ser					TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000446306.3_Missense_Mutation_p.L3186S	p.L3215S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		63	9853	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3215			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9644T>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.7|26.7	4.764004|4.764004	0.89932|0.89932	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.04275|.	3.66;3.66|.	5.67|5.67	5.67|5.67	0.87782|0.87782	PIK-related kinase (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.84656|0.84656	0.5520|0.5520	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.997|.	D;D;D|.	0.76071|.	0.987;0.944;0.944|.	D|D	0.88106|0.88106	0.2822|0.2822	10|5	0.87932|.	D|.	0|.	.|.	15.9056|15.9056	0.79427|0.79427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3186;2925;3215|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|R	3215;3186;3185|2926	ENSP00000352925:L3215S;ENSP00000347733:L3186S|.	ENSP00000347733:L3186S|.	L|W	+|+	2|1	0|0	TRRAP|TRRAP	98426054|98426054	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.157000|2.157000	0.67596|0.67596	0.533000|0.533000	0.62120|0.62120	TTG|TGG		0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		87	352	0	0	0	1	0	87	352				
DIO2	1734	broad.mit.edu	37	14	80669213	80669213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669213C>T	ENST00000557010.1	-	4	1026	c.641G>A	c.(640-642)cGc>cAc	p.R214H	DIO2_ENST00000438257.4_Missense_Mutation_p.R214H|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.R250H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	214					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATTGTCCATGCGGTCAGCCAC	0.547											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(640-642)cGc>cAc		deiodinase, iodothyronine, type II							84.0	86.0	86.0					14																	80669213		2053	4188	6241	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669213C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.641G>A	14.37:g.80669213C>T	ENSP00000451419:p.Arg214His		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.R214H|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.R250H	p.R214H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	1026	-			214					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.641G>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872074	0.72180	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.33216	1.42;1.42;1.42	5.77	5.77	0.91146	.	0.147221	0.45606	D	0.000345	T	0.35740	0.0942	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.981;0.985;0.997	P;P;P	0.56700	0.578;0.703;0.804	T	0.16217	-1.0410	10	0.46703	T	0.11	.	19.9785	0.97317	0.0:1.0:0.0:0.0	.	250;214;250	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	H	214;214;250	ENSP00000405854:R214H;ENSP00000451419:R214H;ENSP00000450980:R250H	ENSP00000405854:R214H	R	-	2	0	DIO2	79738966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.946000	0.70234	2.724000	0.93272	0.650000	0.86243	CGC		0.547	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			63	311	0	0	0	1	0	63	311				
RAD21	5885	broad.mit.edu	37	8	117862951	117862951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117862951G>A	ENST00000297338.2	-	12	1813	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	RAD21_ENST00000523986.1_Missense_Mutation_p.P13L|RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_Missense_Mutation_p.P54L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	509	Pro-rich.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GATATTTGGAGGTTCTTCTGG	0.383																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1525-1527)cCt>cTt		RAD21 homolog (S. pombe)							132.0	131.0	132.0					8																	117862951		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117862951G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1526C>T	8.37:g.117862951G>A	ENSP00000297338:p.Pro509Leu					RAD21_ENST00000523986.1_Missense_Mutation_p.P13L|RAD21_ENST00000518055.1_Missense_Mutation_p.P54L	p.P509L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			12	1813	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		509			Pro-rich.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1526C>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665099	0.67700	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000518055	T;T;T	0.77358	0.66;-1.09;-0.09	5.36	5.36	0.76844	.	0.205404	0.50627	D	0.000105	T	0.70482	0.3229	L	0.36672	1.1	0.80722	D	1	B	0.27823	0.19	B	0.23018	0.043	T	0.66114	-0.6004	10	0.30078	T	0.28	-26.6076	19.1023	0.93279	0.0:0.0:1.0:0.0	.	509	O60216	RAD21_HUMAN	L	509;13;54	ENSP00000297338:P509L;ENSP00000428513:P13L;ENSP00000428003:P54L	ENSP00000297338:P509L	P	-	2	0	RAD21	117932132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.869000	0.87170	2.481000	0.83766	0.467000	0.42956	CCT		0.383	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		84	444	0	0	0	1	0	84	444				
FRMD3	257019	broad.mit.edu	37	9	85863059	85863059	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85863059G>T	ENST00000304195.3	-	14	1774	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	FRMD3_ENST00000376438.1_Missense_Mutation_p.P523Q|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.P180Q|FRMD3_ENST00000376434.1_Missense_Mutation_p.P329Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	523						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTGACCAGTGGGTTCACCCG	0.517																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1567-1569)cCa>cAa		FERM domain containing 3							62.0	66.0	65.0					9																	85863059		1951	4148	6099	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863059G>T	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1568C>A	9.37:g.85863059G>T	ENSP00000303508:p.Pro523Gln					FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.P523Q|FRMD3_ENST00000328788.1_Missense_Mutation_p.P180Q|FRMD3_ENST00000376434.1_Missense_Mutation_p.P329Q	p.P523Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1774	-			523					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1568C>A	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600036	0.28534	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.85411	-1.57;-1.98;0.93;-1.57	5.69	4.74	0.60224	.	0.213391	0.47852	D	0.000220	T	0.80803	0.4693	L	0.44542	1.39	0.30744	N	0.745893	B;B;B	0.33583	0.112;0.078;0.418	B;B;B	0.36504	0.039;0.06;0.226	T	0.76402	-0.2972	10	0.20046	T	0.44	.	15.4669	0.75409	0.0:0.0:0.8608:0.1392	.	523;523;180	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	Q	523;329;180;523	ENSP00000365621:P523Q;ENSP00000365617:P329Q;ENSP00000328615:P180Q;ENSP00000303508:P523Q	ENSP00000303508:P523Q	P	-	2	0	FRMD3	85052879	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.125000	0.64715	2.699000	0.92147	0.655000	0.94253	CCA		0.517	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		72	321	1	0	2.03652e-46	1	2.50201e-46	72	321				
MSRB3	253827	broad.mit.edu	37	12	65702408	65702408	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65702408G>A	ENST00000355192.3	+	2	223				MSRB3_ENST00000538725.1_3'UTR|MSRB3_ENST00000540804.1_Intron|MSRB3_ENST00000308259.5_Missense_Mutation_p.A17T|MSRB3_ENST00000535664.1_Missense_Mutation_p.A17T	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3						protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CCAGCCAGTAGCCCTTCGAGC	0.502																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(49-51)Gcc>Acc		methionine sulfoxide reductase B3							130.0	115.0	120.0					12																	65702408		2203	4300	6503	SO:0001627	intron_variant	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65702408G>A	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.98-18198G>A	12.37:g.65702408G>A						MSRB3_ENST00000535664.1_Missense_Mutation_p.A17T|MSRB3_ENST00000355192.3_Intron|MSRB3_ENST00000540804.1_Intron|MSRB3_ENST00000538725.1_3'UTR	p.A17T	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	2	323	+			0					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.49G>A	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231460	0.39399	.	.	ENSG00000174099	ENST00000308259;ENST00000535664;ENST00000538045;ENST00000535239	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.07	6.01	5.07	0.68467	.	.	.	.	.	T	0.46073	0.1374	N	0.25647	0.755	0.33937	D	0.642723	B	0.14012	0.009	B	0.12837	0.008	T	0.49661	-0.8916	8	.	.	.	.	9.4925	0.38969	0.0704:0.0:0.7859:0.1437	.	17	Q8IXL7-2	.	T	17	ENSP00000312274:A17T;ENSP00000441650:A17T;ENSP00000442620:A17T;ENSP00000445843:A17T	.	A	+	1	0	MSRB3	63988675	1.000000	0.71417	0.980000	0.43619	0.720000	0.41350	3.998000	0.57024	2.861000	0.98227	0.650000	0.86243	GCC		0.502	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		72	360	0	0	0	1	0	72	360				
UPF2	26019	broad.mit.edu	37	10	11997479	11997479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11997479G>A	ENST00000356352.2	-	13	3075	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	UPF2_ENST00000397053.2_Missense_Mutation_p.R868C|UPF2_ENST00000357604.5_Missense_Mutation_p.R868C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	868	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTGCTGATGCGCCTCTGATTA	0.358																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(2602-2604)Cgc>Tgc		UPF2 regulator of nonsense transcripts homolog (yeast)							59.0	58.0	58.0					10																	11997479		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11997479G>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2602C>T	10.37:g.11997479G>A	ENSP00000348708:p.Arg868Cys					UPF2_ENST00000397053.2_Missense_Mutation_p.R868C|UPF2_ENST00000357604.5_Missense_Mutation_p.R868C	p.R868C			Q9HAU5	RENT2_HUMAN			13	3075	-		Renal(717;0.228)	868			MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2602C>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960300	0.74016	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23950	1.88;1.88;1.88	5.17	5.17	0.71159	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68546	-0.5380	10	0.87932	D	0	.	12.3971	0.55391	0.0:0.0:0.7054:0.2946	.	868	Q9HAU5	RENT2_HUMAN	C	868	ENSP00000348708:R868C;ENSP00000350221:R868C;ENSP00000380244:R868C	ENSP00000348708:R868C	R	-	1	0	UPF2	12037485	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.203000	0.72137	2.413000	0.81919	0.591000	0.81541	CGC		0.358	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			43	207	0	0	0	1	0	43	207				
ZNF462	58499	broad.mit.edu	37	9	109686536	109686536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109686536C>T	ENST00000277225.5	+	3	632	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	115					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R115S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTCTGTGTACGCTACTTCAG	0.473																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.R115S(1)	lung(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(343-345)Cgc>Tgc		zinc finger protein 462							87.0	82.0	84.0					9																	109686536		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109686536C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.343C>T	9.37:g.109686536C>T	ENSP00000277225:p.Arg115Cys					ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C	p.R115C			Q96JM2	ZN462_HUMAN			3	632	+			115					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.343C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241105	0.58995	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.10288	2.89;3.36	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00254	-1.1874	9	.	.	.	.	19.525	0.95201	0.0:1.0:0.0:0.0	.	115	Q96JM2	ZN462_HUMAN	C	115	ENSP00000277225:R115C;ENSP00000414570:R115C	.	R	+	1	0	ZNF462	108726357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.628000	0.89032	0.467000	0.42956	CGC		0.473	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		52	240	0	0	0	1	0	52	240				
RABGAP1	23637	broad.mit.edu	37	9	125746835	125746835	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125746835C>T	ENST00000373647.4	+	3	356	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	74					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTCCAATGGACGACCAGCCAG	0.478																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(220-222)gaC>gaT		RAB GTPase activating protein 1							107.0	89.0	95.0					9																	125746835		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125746835C>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.222C>T	9.37:g.125746835C>T							p.D74D	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			3	356	+			74					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.222C>T	CCDS6848.2																																																																																				0.478	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		30	203	0	0	0	1	0	30	203				
ASTN1	460	broad.mit.edu	37	1	177030297	177030297	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177030297T>G	ENST00000367654.3	-	2	599	c.388A>C	c.(388-390)Agc>Cgc	p.S130R	ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R|ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	130					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGAAGGCTTGGGGCACCA	0.537																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(388-390)Agc>Cgc		astrotactin 1							254.0	238.0	244.0					1																	177030297		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030297T>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.388A>C	1.37:g.177030297T>G	ENSP00000356626:p.Ser130Arg					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R	p.S130R			O14525	ASTN1_HUMAN			2	401	-			130					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.388A>C		.	.	.	.	.	.	.	.	.	.	T	16.00	2.998800	0.54147	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14640	2.49;2.9;2.9;2.49	6.06	6.06	0.98353	.	0.133095	0.64402	D	0.000003	T	0.14356	0.0347	L	0.36672	1.1	0.41103	D	0.985688	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.15870	0.014;0.014;0.014	T	0.02471	-1.1154	10	0.49607	T	0.09	-23.7253	16.2708	0.82618	0.0:0.0:0.0:1.0	.	130;130;130	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	130	ENSP00000356629:S130R;ENSP00000354536:S130R;ENSP00000356626:S130R;ENSP00000395041:S130R	ENSP00000354536:S130R	S	-	1	0	ASTN1	175296920	1.000000	0.71417	0.578000	0.28575	0.995000	0.86356	6.017000	0.70805	2.324000	0.78689	0.533000	0.62120	AGC		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		261	799	0	0	0	1	0	261	799				
EML4	27436	broad.mit.edu	37	2	42513424	42513424	+	Missense_Mutation	SNP	G	G	A	rs146370925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42513424G>A	ENST00000318522.5	+	10	1289	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	EML4_ENST00000402711.2_Missense_Mutation_p.V285I|EML4_ENST00000401738.3_Missense_Mutation_p.V354I	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	343					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACAACCCCACGTCAGAGTGTG	0.438			T	ALK	NSCLC								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18978	0.0		0.0	False		,,,				2504	0.0					ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1027-1029)Gtc>Atc		echinoderm microtubule associated protein like 4		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	159.0	135.0	143.0		853,1027	4.9	1.0	2	dbSNP_134	143	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	EML4	NM_001145076.1,NM_019063.3	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	285/924,343/982	42513424	2,13004	2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42513424G>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1027G>A	2.37:g.42513424G>A	ENSP00000320663:p.Val343Ile					EML4_ENST00000402711.2_Missense_Mutation_p.V285I|EML4_ENST00000401738.3_Missense_Mutation_p.V354I	p.V343I	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			10	1289	+			343					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1027G>A	CCDS1807.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.7	4.851680	0.91355	0.0	2.33E-4	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57752	0.38;0.38;0.38	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	L	0.32530	0.975	0.80722	D	1	D;P;D	0.76494	0.975;0.764;0.999	B;B;D	0.77557	0.353;0.391;0.99	T	0.53648	-0.8409	10	0.14252	T	0.57	-11.591	18.5327	0.90999	0.0:0.0:1.0:0.0	.	285;354;343	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	I	343;285;354	ENSP00000320663:V343I;ENSP00000385059:V285I;ENSP00000384939:V354I	ENSP00000320663:V343I	V	+	1	0	EML4	42366928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.438000	0.82558	0.650000	0.86243	GTC		0.438	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		94	261	0	0	0	1	0	94	261				
FOXM1	2305	broad.mit.edu	37	12	2973867	2973867	+	Missense_Mutation	SNP	C	C	T	rs376160082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2973867C>T	ENST00000359843.3	-	7	1140	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.E358K|FOXM1_ENST00000361953.3_Missense_Mutation_p.E343K	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	358					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGGGGGAGTTCGGTTTTGATG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.001					ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1072-1074)Gaa>Aaa		forkhead box M1		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	165.0	144.0	151.0		1072,1072,1027	4.8	1.0	12		151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	358/764,358/802,343/749	2973867	1,13005	2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2973867C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1072G>A	12.37:g.2973867C>T	ENSP00000352901:p.Glu358Lys					FOXM1_ENST00000359843.3_Missense_Mutation_p.E358K|FOXM1_ENST00000361953.3_Missense_Mutation_p.E343K	p.E358K	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		7	1185	-			358					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1072G>A	CCDS8515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.936750|2.936750	0.52972|0.52972	0.0|0.0	1.16E-4|1.16E-4	ENSG00000111206|ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843|ENST00000535350	D;D;D|.	0.92805|.	-2.97;-3.11;-3.03|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.604087|.	0.16138|.	N|.	0.227843|.	T|T	0.37293|0.37293	0.0998|0.0998	N|N	0.14661|0.14661	0.345|0.345	0.30901|0.30901	N|N	0.729328|0.729328	P;D;P;D;D|.	0.69078|.	0.898;0.971;0.939;0.971;0.997|.	B;B;B;B;P|.	0.59487|.	0.234;0.298;0.412;0.298;0.858|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|5	0.25751|.	T|.	0.34|.	.|.	14.7477|14.7477	0.69501|0.69501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	342;358;343;358;358|.	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3|.	.;.;.;FOXM1_HUMAN;.|.	K|Q	358;343;358|83	ENSP00000342307:E358K;ENSP00000354492:E343K;ENSP00000352901:E358K|.	ENSP00000342307:E358K|.	E|R	-|-	1|2	0|0	FOXM1|FOXM1	2844128|2844128	0.323000|0.323000	0.24643|0.24643	0.984000|0.984000	0.44739|0.44739	0.242000|0.242000	0.25591|0.25591	1.607000|1.607000	0.36836|0.36836	2.500000|2.500000	0.84329|0.84329	0.313000|0.313000	0.20887|0.20887	GAA|CGA		0.532	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		22	563	0	0	0	1	0	22	563				
ADAM10	102	broad.mit.edu	37	15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:58974499C>T	ENST00000260408.3	-	3	664	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	74					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTCTTCATTCGTAGGTTGAA	0.299																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(220-222)cGa>cAa		ADAM metallopeptidase domain 10							75.0	76.0	76.0					15																	58974499		2192	4289	6481	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58974499C>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.221G>A	15.37:g.58974499C>T	ENSP00000260408:p.Arg74Gln					ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	p.R74Q	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	3	664	-			74					B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.221G>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697421	0.88830	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;T	0.06449	3.3;3.3	5.67	5.67	0.87782	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	M	0.66506	2.035	0.80722	D	1	P;P	0.42518	0.769;0.782	B;B	0.43386	0.322;0.418	T	0.02081	-1.1217	10	0.30854	T	0.27	-29.3089	19.7476	0.96257	0.0:1.0:0.0:0.0	.	74;74	A0AV88;O14672	.;ADA10_HUMAN	Q	74	ENSP00000260408:R74Q;ENSP00000391930:R74Q	ENSP00000260408:R74Q	R	-	2	0	ADAM10	56761791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.699000	0.68310	2.678000	0.91216	0.591000	0.81541	CGA		0.299	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		5	201	0	0	0	1	0	5	201				
TACC2	10579	broad.mit.edu	37	10	123845303	123845303	+	Silent	SNP	G	G	A	rs41288006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123845303G>A	ENST00000369005.1	+	4	3628	c.3288G>A	c.(3286-3288)ccG>ccA	p.P1096P	TACC2_ENST00000515603.1_Silent_p.P1096P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.P1096P|TACC2_ENST00000334433.3_Silent_p.P1096P|TACC2_ENST00000453444.2_Silent_p.P1096P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1096					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCGGCCCCGCAGCAGAAAA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16793	0.0		0.001	False		,,,				2504	0.0					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(3286-3288)ccG>ccA		transforming, acidic coiled-coil containing protein 2		G	,	1,4405	2.1+/-5.4	0,1,2202	42.0	49.0	47.0		,3288	-3.2	0.0	10	dbSNP_127	47	11,8589	9.1+/-34.3	0,11,4289	no	intron,coding-synonymous	TACC2	NM_206861.1,NM_206862.2	,	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	,	,1096/2949	123845303	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845303G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3288G>A	10.37:g.123845303G>A						TACC2_ENST00000515603.1_Silent_p.P1096P|TACC2_ENST00000334433.3_Silent_p.P1096P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.P1096P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.P1096P	p.P1096P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3628	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1096					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.3288G>A	CCDS7626.1																																																																																				0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			21	402	0	0	0	1	0	21	402				
CD81	975	broad.mit.edu	37	11	2415352	2415352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2415352C>A	ENST00000263645.5	+	3	465	c.209C>A	c.(208-210)gCt>gAt	p.A70D	CD81_ENST00000526072.1_5'UTR|CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	70					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGTGGGCGCTGTCATGATG	0.652																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(208-210)gCt>gAt		CD81 molecule							183.0	121.0	142.0					11																	2415352		2202	4299	6501	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2415352C>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.209C>A	11.37:g.2415352C>A	ENSP00000263645:p.Ala70Asp					CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000524805.1_3'UTR	p.A70D	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	465	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	70					P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.209C>A	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466384|4.466384	0.84425|0.84425	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252;ENST00000481687|ENST00000464784	T;T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45|.	3.67|3.67	3.67|3.67	0.42095|0.42095	Tetraspanin, conserved site (1);|.	0.060633|.	0.64402|.	D|.	0.000004|.	D|D	0.85535|0.85535	0.5719|0.5719	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.989|.	D|D	0.89969|0.89969	0.4092|0.4092	10|5	0.87932|.	D|.	0|.	.|.	14.4788|14.4788	0.67564|0.67564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108;70|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	D|M	70;65;59;62;108;63;76|55	ENSP00000263645:A70D;ENSP00000435633:A65D;ENSP00000433767:A59D;ENSP00000432497:A62D;ENSP00000370424:A108D;ENSP00000432249:A63D;ENSP00000432033:A76D|.	ENSP00000263645:A70D|.	A|L	+|+	2|1	0|2	CD81|CD81	2371928|2371928	0.995000|0.995000	0.38212|0.38212	0.978000|0.978000	0.43139|0.43139	0.837000|0.837000	0.47467|0.47467	4.170000|4.170000	0.58229|0.58229	2.079000|2.079000	0.62486|0.62486	0.462000|0.462000	0.41574|0.41574	GCT|CTG		0.652	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		10	324	1	0	3.86212e-05	1	3.93988e-05	10	324				
CAPN5	726	broad.mit.edu	37	11	76796041	76796041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76796041G>A	ENST00000278559.3	+	2	298	c.109G>A	c.(109-111)Gac>Aac	p.D37N	CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N|CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N|CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	37	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCACTGACGACTCACTCTA	0.657																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(109-111)Gac>Aac		calpain 5							28.0	32.0	31.0					11																	76796041		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76796041G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.109G>A	11.37:g.76796041G>A	ENSP00000278559:p.Asp37Asn					CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N|CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N	p.D37N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			2	298	+			37			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.109G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812369	0.50527	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.18	5.18	0.71444	Peptidase C2, calpain, catalytic domain (3);	0.173178	0.48767	D	0.000164	T	0.23766	0.0575	L	0.52126	1.63	0.58432	D	0.999998	D;B;B;D	0.54601	0.967;0.283;0.269;0.967	P;B;B;P	0.46940	0.532;0.03;0.067;0.454	T	0.00981	-1.1492	10	0.54805	T	0.06	.	16.1934	0.82006	0.0:0.0:1.0:0.0	.	75;37;77;37	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	37;37;77;37;37;37	ENSP00000278559:D37N;ENSP00000435894:D37N;ENSP00000432332:D37N;ENSP00000409996:D37N	ENSP00000278559:D37N	D	+	1	0	CAPN5	76473689	1.000000	0.71417	0.962000	0.40283	0.023000	0.10783	3.769000	0.55303	2.415000	0.81967	0.655000	0.94253	GAC		0.657	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		55	217	0	0	0	1	0	55	217				
FGA	2243	broad.mit.edu	37	4	155507398	155507398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155507398G>A	ENST00000302053.3	-	5	1261	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	FGA_ENST00000403106.3_Missense_Mutation_p.P395S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	395					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGGCTATCTGGCCTAAAACTT	0.537																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1183-1185)Cca>Tca		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						81.0	86.0	84.0					4																	155507398		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507398G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1183C>T	4.37:g.155507398G>A	ENSP00000306361:p.Pro395Ser					FGA_ENST00000403106.3_Missense_Mutation_p.P395S	p.P395S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1261	-	all_hematologic(180;0.215)	Renal(120;0.0458)	395					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1183C>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692833	0.68271	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.69685	-0.42;1.61	5.65	4.8	0.61643	.	37.045900	0.00166	N	0.000000	D	0.82393	0.5027	M	0.73962	2.25	0.27372	N	0.955658	P;D	0.89917	0.886;1.0	P;D	0.83275	0.51;0.996	T	0.52779	-0.8530	10	0.46703	T	0.11	.	7.4811	0.27406	0.0832:0.0:0.7497:0.1671	.	395;395	P02671-2;P02671	.;FIBA_HUMAN	S	395	ENSP00000306361:P395S;ENSP00000385981:P395S	ENSP00000306361:P395S	P	-	1	0	FGA	155726848	0.996000	0.38824	0.665000	0.29768	0.944000	0.59088	1.984000	0.40658	1.379000	0.46325	0.650000	0.86243	CCA		0.537	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		101	499	0	0	0	1	0	101	499				
TPTE2	93492	broad.mit.edu	37	13	20077418	20077418	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20077418C>A	ENST00000382977.4	-	2	168		c.e2-1		TPTE2_ENST00000400230.2_5'UTR|TPTE2_ENST00000390680.2_Splice_Site|TPTE2_ENST00000457266.2_Splice_Site|TPTE2_ENST00000382978.1_5'Flank|TPTE2_ENST00000400103.2_Splice_Site|TPTE2_ENST00000255310.6_5'UTR|TPTE2_ENST00000382975.4_Splice_Site	NM_199254.2	NP_954863.2	Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGTGGGTGGACTAGAGGATGA	0.358																																						ENST00000382977.4																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e2-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							142.0	110.0	120.0					13																	20077418		2203	4300	6503	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20077418C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000382977.4:c.43-1G>T	13.37:g.20077418C>A						TPTE2_ENST00000390680.2_Splice_Site|TPTE2_ENST00000400230.2_5'UTR|TPTE2_ENST00000457266.2_Splice_Site|TPTE2_ENST00000255310.6_5'UTR|TPTE2_ENST00000382975.4_Splice_Site|TPTE2_ENST00000400103.2_Splice_Site		NM_199254.2	NP_954863.2	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	2	168	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)						A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000382977.4	37		CCDS45014.1																																																																																				0.358	TPTE2-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Intron	8	213	1	0	0.00244969	1	0.00247089	8	213				
OR7D4	125958	broad.mit.edu	37	19	9324695	9324695	+	Silent	SNP	G	G	A	rs141567228	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324695G>A	ENST00000308682.2	-	1	847	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCACTGAGGCGGTGGAGCTGC	0.552													g|||	2	0.000399361	0.0008	0.0	5008	,	,		17318	0.0		0.001	False		,,,				2504	0.0					ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(817-819)acC>acT		olfactory receptor, family 7, subfamily D, member 4		G		2,4404	4.2+/-10.8	0,2,2201	72.0	64.0	67.0		819	-6.7	0.0	19	dbSNP_134	67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR7D4	NM_001005191.2		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		273/313	9324695	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324695G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.819C>T	19.37:g.9324695G>A							p.T273T	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	847	-			273					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	c.819C>T	CCDS32901.1																																																																																				0.552	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			12	315	0	0	0	1	0	12	315				
TNP2	7142	broad.mit.edu	37	16	11362939	11362939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11362939C>A	ENST00000312693.3	-	1	250	c.181G>T	c.(181-183)Gga>Tga	p.G61*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	61					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTGTGGGCTCCAGTTGGGTTG	0.617																																						ENST00000312693.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(181-183)Gga>Tga		transition protein 2 (during histone to protamine replacement)							142.0	157.0	152.0					16																	11362939		2075	4213	6288	SO:0001587	stop_gained	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11362939C>A		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.181G>T	16.37:g.11362939C>A	ENSP00000325738:p.Gly61*					RMI2_ENST00000572173.1_Intron	p.G61*	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN			1	250	-			61					Q9NZB0	Nonsense_Mutation	SNP	ENST00000312693.3	37	c.181G>T	CCDS45410.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698888	0.30142	.	.	ENSG00000178279	ENST00000312693	.	.	.	0.91	-1.43	0.08884	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	3.9045	0.09176	0.0:0.4369:0.0:0.5631	.	.	.	.	X	61	.	ENSP00000325738:G61X	G	-	1	0	TNP2	11270440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.023000	0.01438	-0.602000	0.05775	-0.266000	0.10368	GGA		0.617	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		194	905	1	0	1.08951e-92	1	1.39951e-92	194	905				
MOB3A	126308	broad.mit.edu	37	19	2078330	2078330	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2078330C>A	ENST00000357066.3	-	3	609	c.230G>T	c.(229-231)gGc>gTc	p.G77V	MOB3A_ENST00000592280.1_Missense_Mutation_p.G77V|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	77						intracellular (GO:0005622)	metal ion binding (GO:0046872)										GCTGATGGTGCCGTAGATGAG	0.637																																						ENST00000357066.3																			0											c.(229-231)gGc>gTc		MOB kinase activator 3A							83.0	70.0	74.0					19																	2078330		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2078330C>A	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.230G>T	19.37:g.2078330C>A	ENSP00000349575:p.Gly77Val					MOB3A_ENST00000592280.1_Missense_Mutation_p.G77V|MOB3A_ENST00000592143.1_Intron	p.G77V	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			3	609	-			77					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.230G>T	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705448	0.89018	.	.	ENSG00000172081	ENST00000357066	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94005	0.7279	9	0.87932	D	0	-50.1314	15.7938	0.78394	0.0:1.0:0.0:0.0	.	77	Q96BX8	MOB3A_HUMAN	V	77	.	ENSP00000349575:G77V	G	-	2	0	MOBKL2A	2029330	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.454000	0.80714	2.301000	0.77427	0.555000	0.69702	GGC		0.637	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		56	277	1	0	4.02871e-13	1	4.34349e-13	56	277				
PHLDB2	90102	broad.mit.edu	37	3	111693325	111693325	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111693325T>C	ENST00000431670.2	+	18	4088	c.3677T>C	c.(3676-3678)aTg>aCg	p.M1226T	PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T|PHLDB2_ENST00000495180.1_Missense_Mutation_p.M717T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1226	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATCTATTATATGGTAGCCCCA	0.398																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3676-3678)aTg>aCg		pleckstrin homology-like domain, family B, member 2							105.0	108.0	107.0					3																	111693325		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111693325T>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3677T>C	3.37:g.111693325T>C	ENSP00000405405:p.Met1226Thr					PHLDB2_ENST00000495180.1_Missense_Mutation_p.M717T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T	p.M1226T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			18	4088	+			1226			PH.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3677T>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534413	0.45073	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	6.17	6.17	0.99709	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.036996	0.85682	D	0.000000	D	0.86900	0.6044	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.971;0.996;1.0;0.997	D;D;D;D;D	0.85130	0.985;0.926;0.965;0.997;0.991	D	0.88373	0.2996	10	0.87932	D	0	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	338;717;1226;1183;1210	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	T	1210;1226;1183;1226;1183;717	ENSP00000377500:M1210T;ENSP00000405405:M1226T;ENSP00000405292:M1183T;ENSP00000377502:M1226T;ENSP00000418319:M1183T;ENSP00000420303:M717T	ENSP00000377500:M1210T	M	+	2	0	PHLDB2	113176015	1.000000	0.71417	0.990000	0.47175	0.016000	0.09150	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATG		0.398	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		10	461	0	0	0	1	0	10	461				
ARHGAP32	9743	broad.mit.edu	37	11	128844286	128844286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128844286C>T	ENST00000310343.9	-	20	2763	c.2764G>A	c.(2764-2766)Gtc>Atc	p.V922I	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V573I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	922					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTACCAATGACTTCTGACACC	0.458																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2764-2766)Gtc>Atc		Rho GTPase activating protein 32							187.0	171.0	176.0					11																	128844286		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844286C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2764G>A	11.37:g.128844286C>T	ENSP00000310561:p.Val922Ile					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V573I	p.V922I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2763	-			922					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2764G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463911	0.26335	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.81	5.81	0.92471	.	0.522811	0.19795	N	0.105895	T	0.20577	0.0495	L	0.57536	1.79	0.22366	N	0.999161	B;B	0.30741	0.008;0.293	B;B	0.24541	0.016;0.054	T	0.17048	-1.0382	10	0.49607	T	0.09	.	9.7703	0.40585	0.1405:0.7889:0.0:0.0706	.	856;922	Q86T64;A7KAX9	.;RHG32_HUMAN	I	922;573;848;856;573	ENSP00000310561:V922I;ENSP00000376425:V573I;ENSP00000432468:V848I;ENSP00000432862:V573I	ENSP00000310561:V922I	V	-	1	0	ARHGAP32	128349496	0.960000	0.32886	1.000000	0.80357	0.683000	0.39861	1.044000	0.30329	2.745000	0.94114	0.655000	0.94253	GTC		0.458	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		93	311	0	0	0	1	0	93	311				
GZF1	64412	broad.mit.edu	37	20	23345726	23345726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23345726C>T	ENST00000338121.5	+	2	783	c.706C>T	c.(706-708)Cct>Tct	p.P236S	GZF1_ENST00000377051.2_Missense_Mutation_p.P236S|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	236					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTGGAGATCCCTAAAAAGAA	0.507																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(706-708)Cct>Tct		GDNF-inducible zinc finger protein 1							41.0	48.0	46.0					20																	23345726		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345726C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.706C>T	20.37:g.23345726C>T	ENSP00000338290:p.Pro236Ser					GZF1_ENST00000377051.2_Missense_Mutation_p.P236S|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron	p.P236S			Q9H116	GZF1_HUMAN			2	783	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		236					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.706C>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450553	0.43531	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.09538	2.97;2.97	4.02	4.02	0.46733	.	0.000000	0.56097	D	0.000024	T	0.20577	0.0495	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04961	-1.0915	10	0.11182	T	0.66	.	15.6958	0.77494	0.0:1.0:0.0:0.0	.	236	Q9H116	GZF1_HUMAN	S	236	ENSP00000338290:P236S;ENSP00000366250:P236S	ENSP00000338290:P236S	P	+	1	0	GZF1	23293726	0.549000	0.26481	1.000000	0.80357	0.383000	0.30230	3.029000	0.49712	2.245000	0.73994	0.544000	0.68410	CCT		0.507	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		54	243	0	0	0	1	0	54	243				
KCNU1	157855	broad.mit.edu	37	8	36793196	36793196	+	Missense_Mutation	SNP	T	T	G	rs138865963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36793196T>G	ENST00000399881.3	+	27	3245	c.3208T>G	c.(3208-3210)Tca>Gca	p.S1070A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1070					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAGACACATTCAGACACAAA	0.383													T|||	1	0.000199681	0.0	0.0	5008	,	,		20953	0.0		0.001	False		,,,				2504	0.0					ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(3208-3210)Tca>Gca		potassium channel, subfamily U, member 1							141.0	138.0	139.0					8																	36793196		1928	4144	6072	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793196T>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3208T>G	8.37:g.36793196T>G	ENSP00000382770:p.Ser1070Ala						p.S1070A	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3245	+			1070						Missense_Mutation	SNP	ENST00000399881.3	37	c.3208T>G	CCDS55220.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	7.024	0.559231	0.13436	.	.	ENSG00000215262	ENST00000399881	T	0.35605	1.3	4.96	-9.93	0.00452	.	.	.	.	.	T	0.18800	0.0451	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	9	0.62326	D	0.03	.	0.384	0.00399	0.3759:0.1556:0.229:0.2394	.	1070	A8MYU2	KCNU1_HUMAN	A	1070	ENSP00000382770:S1070A	ENSP00000382770:S1070A	S	+	1	0	KCNU1	36912354	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.320000	0.00513	-3.904000	0.00093	-1.119000	0.02030	TCA		0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		104	395	0	0	0	1	0	104	395				
NUP85	79902	broad.mit.edu	37	17	73221213	73221213	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73221213C>A	ENST00000245544.4	+	8	684	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000579298.1_Intron|NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_Missense_Mutation_p.L37M	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	205					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATCTTGGTGCTGCAGGGCCG	0.652																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(109-111)Ctg>Atg		nucleoporin 85kDa							39.0	43.0	42.0					17																	73221213		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73221213C>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.613C>A	17.37:g.73221213C>A	ENSP00000245544:p.Leu205Met					NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000245544.4_Missense_Mutation_p.L205M|NUP85_ENST00000579298.1_Intron	p.L37M			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		7	533	+	all_lung(278;0.14)|Lung NSC(278;0.168)		205					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.109C>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728647	0.48833	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.73721	0.3623	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74553	-0.3627	9	0.52906	T	0.07	-11.6694	18.4662	0.90755	0.0:1.0:0.0:0.0	.	205	Q9BW27	NUP85_HUMAN	M	205;159;159;37	.	ENSP00000245544:L205M	L	+	1	2	NUP85	70732808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.489000	0.66875	2.588000	0.87417	0.650000	0.86243	CTG		0.652	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		80	351	1	0	7.2426e-40	1	8.76758e-40	80	351				
NDOR1	27158	broad.mit.edu	37	9	140110839	140110839	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110839C>T	ENST00000344894.5	+	14	1848	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	NDOR1_ENST00000371521.4_Missense_Mutation_p.R598W|NDOR1_ENST00000427047.2_3'UTR|NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGCAGACACGGCGCTTCCA	0.682																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1792-1794)Cgg>Tgg		NADPH dependent diflavin oxidoreductase 1							35.0	39.0	38.0					9																	140110839		2203	4299	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110839C>T	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1765C>T	9.37:g.140110839C>T	ENSP00000343344:p.Arg589Trp					NDOR1_ENST00000344894.5_Missense_Mutation_p.R589W|NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W|NDOR1_ENST00000427047.2_3'UTR	p.R598W	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	14	1875	+	all_cancers(76;0.0926)		589						Missense_Mutation	SNP	ENST00000344894.5	37	c.1792C>T	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662550	0.29515	.	.	ENSG00000188566	ENST00000458322;ENST00000371521;ENST00000344894	T;T;T	0.78924	-1.22;-1.22;-1.22	3.93	-0.989	0.10242	.	0.777035	0.11604	N	0.547504	D	0.82518	0.5054	M	0.85945	2.785	0.09310	N	1	D;D;D	0.69078	0.995;0.997;0.989	P;P;P	0.54924	0.586;0.764;0.586	T	0.72107	-0.4390	10	0.72032	D	0.01	-4.7404	6.1079	0.20084	0.4665:0.4318:0.0:0.1017	.	582;598;589	D3YTG6;Q9UHB4-2;Q9UHB4	.;.;NDOR1_HUMAN	W	582;598;589	ENSP00000389905:R582W;ENSP00000360576:R598W;ENSP00000343344:R589W	ENSP00000343344:R589W	R	+	1	2	NDOR1	139230660	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	-0.438000	0.06905	-0.003000	0.14444	0.561000	0.74099	CGG		0.682	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		42	216	0	0	0	1	0	42	216				
CPS1	1373	broad.mit.edu	37	2	211481151	211481151	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211481151T>A	ENST00000233072.5	+	21	2769	c.2573T>A	c.(2572-2574)aTt>aAt	p.I858N	CPS1_ENST00000451903.2_Missense_Mutation_p.I407N|CPS1_ENST00000430249.2_Missense_Mutation_p.I864N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	858					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGCAGGCCATTGATGACAAC	0.358																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2572-2574)aTt>aAt		carbamoyl-phosphate synthase 1, mitochondrial							154.0	151.0	152.0					2																	211481151		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211481151T>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2573T>A	2.37:g.211481151T>A	ENSP00000233072:p.Ile858Asn					CPS1_ENST00000430249.2_Missense_Mutation_p.I864N|CPS1_ENST00000451903.2_Missense_Mutation_p.I407N	p.I858N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	21	2769	+			858					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2573T>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786943	0.49997	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96940	-4.18;-4.18;-4.18	5.41	5.41	0.78517	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.354656	0.29900	N	0.010913	D	0.95178	0.8437	M	0.62088	1.915	0.34698	D	0.726462	P;P	0.43477	0.808;0.537	B;B	0.40285	0.325;0.325	D	0.99694	1.1002	10	0.87932	D	0	-3.1683	15.7337	0.77825	0.0:0.0:0.0:1.0	.	868;858	Q59HF8;P31327	.;CPSM_HUMAN	N	864;866;858;407	ENSP00000402608:I864N;ENSP00000233072:I858N;ENSP00000406136:I407N	ENSP00000233072:I858N	I	+	2	0	CPS1	211189396	0.999000	0.42202	0.603000	0.28903	0.669000	0.39330	7.400000	0.79949	2.169000	0.68431	0.533000	0.62120	ATT		0.358	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			86	469	0	0	0	1	0	86	469				
TBC1D31	93594	broad.mit.edu	37	8	124138748	124138748	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124138748C>A	ENST00000287380.1	+	13	1795	c.1705C>A	c.(1705-1707)Cta>Ata	p.L569I	TBC1D31_ENST00000378080.2_Splice_Site_p.L464I|TBC1D31_ENST00000521676.1_Splice_Site_p.L446I|TBC1D31_ENST00000518805.1_Splice_Site_p.L202I|TBC1D31_ENST00000309336.3_Splice_Site_p.L569I|TBC1D31_ENST00000522420.1_Splice_Site_p.L464I|TBC1D31_ENST00000327098.5_Splice_Site_p.L569I	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	569	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TCTGTTTTAGCTATATGCATG	0.343																																						ENST00000287380.1																			0											c.e13-1		TBC1 domain family, member 31							76.0	74.0	75.0					8																	124138748		2203	4300	6503	SO:0001630	splice_region_variant	93594							g.chr8:124138748C>A	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1705-1C>A	8.37:g.124138748C>A						TBC1D31_ENST00000522420.1_Splice_Site_p.L464_splice|TBC1D31_ENST00000309336.3_Splice_Site_p.L569_splice|TBC1D31_ENST00000378080.2_Splice_Site_p.L464_splice|TBC1D31_ENST00000327098.5_Splice_Site_p.L569_splice|TBC1D31_ENST00000521676.1_Splice_Site_p.L446_splice|TBC1D31_ENST00000518805.1_Splice_Site_p.L202_splice	p.L569_splice	NM_145647.3	NP_663622.2					13	1795	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	SNP	ENST00000287380.1	37	c.1704_splice	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	C	6.664	0.491109	0.12702	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.86	-1.32	0.09201	Rab-GAP/TBC domain (3);	0.340162	0.27227	N	0.020328	T	0.24547	0.0595	N	0.25380	0.74	0.33094	D	0.538346	B;B;B;B	0.24675	0.014;0.019;0.078;0.109	B;B;B;B	0.37422	0.047;0.089;0.056;0.249	T	0.28713	-1.0035	9	.	.	.	-7.2556	7.5353	0.27706	0.0:0.1795:0.3623:0.4581	.	569;569;464;569	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	I	569;569;569;464;446;464;202	ENSP00000287380:L569I;ENSP00000308358:L569I;ENSP00000312701:L569I;ENSP00000429334:L464I;ENSP00000430628:L446I;ENSP00000367320:L464I;ENSP00000429494:L202I	.	L	+	1	2	WDR67	124207929	0.974000	0.33945	0.445000	0.26908	0.055000	0.15305	0.166000	0.16583	-0.130000	0.11599	0.650000	0.86243	CTA		0.343	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Missense_Mutation	16	211	1	0	7.05477e-17	1	7.76761e-17	16	211				
CCDC84	338657	broad.mit.edu	37	11	118881506	118881506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118881506C>T	ENST00000334418.1	+	4	472	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	139										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGTTTGGATTCCTATGAAGAA	0.438																																						ENST00000334418.1																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5						c.(415-417)tCc>tTc		coiled-coil domain containing 84							95.0	94.0	94.0					11																	118881506		2200	4295	6495	SO:0001583	missense	338657							g.chr11:118881506C>T	AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.416C>T	11.37:g.118881506C>T	ENSP00000334767:p.Ser139Phe					CCDC84_ENST00000580556.1_3'UTR	p.S139F	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	4	472	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	139						Missense_Mutation	SNP	ENST00000334418.1	37	c.416C>T	CCDS8405.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022775	0.75275	.	.	ENSG00000186166	ENST00000334418	T	0.45668	0.89	5.47	5.47	0.80525	.	0.438718	0.25419	N	0.030807	T	0.46464	0.1394	L	0.44542	1.39	0.33287	D	0.563067	P	0.39883	0.693	P	0.46975	0.533	T	0.60994	-0.7152	10	0.62326	D	0.03	-13.1838	14.8245	0.70101	0.0:1.0:0.0:0.0	.	139	Q86UT8	CCD84_HUMAN	F	139	ENSP00000334767:S139F	ENSP00000334767:S139F	S	+	2	0	CCDC84	118386716	0.978000	0.34361	1.000000	0.80357	0.924000	0.55760	1.030000	0.30153	2.573000	0.86826	0.563000	0.77884	TCC		0.438	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489		38	237	0	0	0	1	0	38	237				
KALRN	8997	broad.mit.edu	37	3	124053224	124053224	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124053224T>C	ENST00000240874.3	+	9	1680	c.1523T>C	c.(1522-1524)cTg>cCg	p.L508P	KALRN_ENST00000460856.1_Missense_Mutation_p.L508P|KALRN_ENST00000360013.3_Missense_Mutation_p.L508P	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	508					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGGTGCTGGACGTGGTG	0.627																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1522-1524)cTg>cCg		kalirin, RhoGEF kinase							83.0	83.0	83.0					3																	124053224		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053224T>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1523T>C	3.37:g.124053224T>C	ENSP00000240874:p.Leu508Pro					KALRN_ENST00000460856.1_Missense_Mutation_p.L508P|KALRN_ENST00000240874.3_Missense_Mutation_p.L508P	p.L508P	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			9	1650	+			508					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1523T>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.102396|4.102396	0.76983|0.76983	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.62105|.	0.05;0.05;0.05|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.74574|0.74574	0.3734|0.3734	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.81914|.	0.961;0.995;0.983|.	T|T	0.75693|0.75693	-0.3229|-0.3229	10|5	0.48119|.	T|.	0.1|.	.|.	15.1227|15.1227	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	508;508;508|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	P|R	508|486	ENSP00000418611:L508P;ENSP00000240874:L508P;ENSP00000353109:L508P|.	ENSP00000240874:L508P|.	L|W	+|+	2|1	0|0	KALRN|KALRN	125535914|125535914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.719000|0.719000	0.41307|0.41307	7.825000|7.825000	0.86693|0.86693	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.627	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		100	515	0	0	0	1	0	100	515				
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389924C>T	ENST00000300098.1	+	2	1150	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(931-933)Ctg>Ttg		G protein-coupled receptor 182							250.0	217.0	228.0					12																	57389924		2203	4300	6503	SO:0001819	synonymous_variant	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389924C>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.931C>T	12.37:g.57389924C>T							p.L311L	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	1150	+			311						Silent	SNP	ENST00000300098.1	37	c.931C>T	CCDS8927.1																																																																																				0.542	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		102	1102	0	0	0	1	0	102	1102				
FAM120B	84498	broad.mit.edu	37	6	170626923	170626923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170626923G>T	ENST00000476287.1	+	2	553	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	149					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AAAGACACTGGGCCAGGAAAC	0.458																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(445-447)Ggc>Tgc		family with sequence similarity 120B							81.0	78.0	79.0					6																	170626923		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626923G>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.445G>T	6.37:g.170626923G>T	ENSP00000417970:p.Gly149Cys					FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000252510.9_Intron	p.G149C	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	553	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	149					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.445G>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160760	0.57368	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.56444	0.46;0.46;0.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70718	-0.4795	10	0.87932	D	0	-23.9753	20.6593	0.99626	0.0:0.0:1.0:0.0	.	149;149	Q96EK7;F2Z2E1	F120B_HUMAN;.	C	161;172;149	ENSP00000444125:G161C;ENSP00000440125:G172C;ENSP00000417970:G149C	ENSP00000436640:G149C	G	+	1	0	FAM120B	170468848	1.000000	0.71417	0.999000	0.59377	0.097000	0.18754	9.175000	0.94831	2.885000	0.99019	0.655000	0.94253	GGC		0.458	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		94	350	1	0	3.11363e-52	1	3.87178e-52	94	350				
SLITRK3	22865	broad.mit.edu	37	3	164906516	164906516	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906516G>T	ENST00000475390.1	-	2	2546	c.2103C>A	c.(2101-2103)atC>atA	p.I701I	SLITRK3_ENST00000241274.3_Silent_p.I701I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	701					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTGCATTTGGATGCCAGTAA	0.577										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2101-2103)atC>atA		SLIT and NTRK-like family, member 3							97.0	73.0	82.0					3																	164906516		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906516G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2103C>A	3.37:g.164906516G>T		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.I701I	p.I701I			O94933	SLIK3_HUMAN			2	2546	-			701					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2103C>A	CCDS3197.1																																																																																				0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		74	293	1	0	3.27973e-32	1	3.87147e-32	74	293				
THADA	63892	broad.mit.edu	37	2	43625219	43625219	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43625219A>C	ENST00000405006.4	-	29	4469	c.4118T>G	c.(4117-4119)tTt>tGt	p.F1373C	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1373										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCATAACAAATGGGACCAA	0.473																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(4117-4119)tTt>tGt		thyroid adenoma associated							135.0	137.0	136.0					2																	43625219		2018	4191	6209	SO:0001583	missense	63892						binding	g.chr2:43625219A>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4118T>G	2.37:g.43625219A>C	ENSP00000385995:p.Phe1373Cys					THADA_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C	p.F1373C	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			29	4469	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1373					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4118T>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.944723|3.944723	0.73672|0.73672	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72455|0.72455	0.3462|0.3462	M|M	0.70275|0.70275	2.135|2.135	0.47994|0.47994	D|D	0.999564|0.999564	D;D;D;D|.	0.76494|.	0.996;0.999;0.987;0.964|.	P;D;P;P|.	0.64506|.	0.889;0.926;0.717;0.541|.	T|T	0.73069|0.73069	-0.4099|-0.4099	10|5	0.39692|.	T|.	0.17|.	.|.	14.0046|14.0046	0.64456|0.64456	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1052;1300;1054;1373|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	C|V	1373;1300;1054;1373|613	ENSP00000386088:F1373C;ENSP00000416048:F1054C;ENSP00000385995:F1373C|.	ENSP00000349464:F1300C|.	F|L	-|-	2|1	0|2	THADA|THADA	43478723|43478723	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.982000|0.982000	0.71751|0.71751	5.562000|5.562000	0.67346|0.67346	1.943000|1.943000	0.56356|0.56356	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.473	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		133	396	0	0	0	1	0	133	396				
INTS4	92105	broad.mit.edu	37	11	77705641	77705641	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77705641C>T	ENST00000534064.1	-	1	83	c.49G>A	c.(49-51)Gtt>Att	p.V17I	INTS4_ENST00000527522.1_Missense_Mutation_p.V17I|INTS4_ENST00000529807.1_Missense_Mutation_p.V17I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	17					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTTACCTGAACCACTTTCGTG	0.577																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(49-51)Gtt>Att		integrator complex subunit 4							95.0	88.0	90.0					11																	77705641		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77705641C>T	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.49G>A	11.37:g.77705641C>T	ENSP00000434466:p.Val17Ile					INTS4_ENST00000529807.1_Missense_Mutation_p.V17I|INTS4_ENST00000527522.1_Missense_Mutation_p.V17I	p.V17I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		1	83	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		17					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.49G>A	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124834	0.56613	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	.	.	.	5.48	5.48	0.80851	.	0.134884	0.48767	D	0.000162	T	0.43456	0.1248	N	0.16743	0.435	0.80722	D	1	B	0.32620	0.378	B	0.32211	0.142	T	0.28202	-1.0051	9	0.16896	T	0.51	-21.5488	19.5509	0.95319	0.0:1.0:0.0:0.0	.	17	Q96HW7	INT4_HUMAN	I	17	.	ENSP00000407787:V17I	V	-	1	0	INTS4	77383289	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.894000	0.63206	2.852000	0.98041	0.643000	0.83706	GTT		0.577	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		11	596	0	0	0	1	0	11	596				
FREM1	158326	broad.mit.edu	37	9	14851350	14851350	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14851350C>A	ENST00000380880.3	-	6	1867	c.1084G>T	c.(1084-1086)Gat>Tat	p.D362Y	FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Missense_Mutation_p.D363Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	362					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCACTGAGATCTTTCCAGGTG	0.493																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1087-1089)Gat>Tat		FRAS1 related extracellular matrix 1							106.0	105.0	106.0					9																	14851350		2090	4217	6307	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14851350C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1084G>T	9.37:g.14851350C>A	ENSP00000370262:p.Asp362Tyr					FREM1_ENST00000380880.3_Missense_Mutation_p.D362Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y	p.D363Y			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	7	1902	-			362					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1087G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544991	0.86022	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27256	1.69;1.68;1.68	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.88906	2.99	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.63808	-0.6553	10	0.87932	D	0	-20.9343	14.6418	0.68732	0.0:0.9309:0.0:0.0691	.	362	Q5H8C1	FREM1_HUMAN	Y	363;362;362	ENSP00000370263:D363Y;ENSP00000412940:D362Y;ENSP00000370262:D362Y	ENSP00000370257:D365Y	D	-	1	0	FREM1	14841350	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	4.660000	0.61511	2.850000	0.98022	0.655000	0.94253	GAT		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		56	226	1	0	1.67886e-27	1	1.94484e-27	56	226				
MYO3A	53904	broad.mit.edu	37	10	26443677	26443677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26443677C>T	ENST00000265944.5	+	25	2884	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	906	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTCCTTAGGGCGACACTGGAG	0.393																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2716-2718)ggC>ggT		myosin IIIA							99.0	97.0	98.0					10																	26443677		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26443677C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2718C>T	10.37:g.26443677C>T						MYO3A_ENST00000543632.1_Intron	p.G906G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			25	2884	+			906			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.2718C>T	CCDS7148.1																																																																																				0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		28	99	0	0	0	1	0	28	99				
HOXB8	3218	broad.mit.edu	37	17	46691677	46691677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691677C>T	ENST00000239144.4	-	1	624	c.390G>A	c.(388-390)tcG>tcA	p.S130S	HOXB8_ENST00000576562.1_Silent_p.S130S|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	130					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCTGTGTGGGCGACGGGCTCT	0.726																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(388-390)tcG>tcA		homeobox B8							9.0	11.0	10.0					17																	46691677		2146	4227	6373	SO:0001819	synonymous_variant	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691677C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.390G>A	17.37:g.46691677C>T						HOXB8_ENST00000576562.1_Silent_p.S130S|HOXB7_ENST00000567101.1_Intron	p.S130S	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	624	-			130					Q9H1I2	Silent	SNP	ENST00000239144.4	37	c.390G>A	CCDS11533.1																																																																																				0.726	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			25	104	0	0	0	1	0	25	104				
AHNAK2	113146	broad.mit.edu	37	14	105420293	105420293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105420293C>A	ENST00000333244.5	-	7	1614	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	499						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTCTTTTTCTGTGGAAAAT	0.507																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1495-1497)Gaa>Taa		AHNAK nucleoprotein 2							56.0	59.0	58.0					14																	105420293		1925	4125	6050	SO:0001587	stop_gained	113146					nucleus		g.chr14:105420293C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1495G>T	14.37:g.105420293C>A	ENSP00000353114:p.Glu499*						p.E499*	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1614	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	499					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.1495G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	37	6.337537	0.97485	.	.	ENSG00000185567	ENST00000333244	.	.	.	5.03	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.3871	0.32508	0.2317:0.3946:0.3736:0.0	.	.	.	.	X	499	.	ENSP00000353114:E499X	E	-	1	0	AHNAK2	104491338	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.375000	0.20518	0.569000	0.29329	0.561000	0.74099	GAA		0.507	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		80	325	1	0	1.24833e-42	1	1.5209e-42	80	325				
RELA	5970	broad.mit.edu	37	11	65423197	65423197	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65423197G>T	ENST00000406246.3	-	10	1256	c.995C>A	c.(994-996)gCt>gAt	p.A332D	RELA_ENST00000525693.1_Missense_Mutation_p.A332D|RELA_ENST00000308639.9_Missense_Mutation_p.A329D	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	332					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAAGGCACAGCAATGCGTCG	0.622																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(994-996)gCt>gAt		v-rel avian reticuloendotheliosis viral oncogene homolog A							91.0	87.0	88.0					11																	65423197		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65423197G>T	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.995C>A	11.37:g.65423197G>T	ENSP00000384273:p.Ala332Asp					RELA_ENST00000406246.3_Missense_Mutation_p.A332D|RELA_ENST00000308639.9_Missense_Mutation_p.A329D	p.A332D			Q04206	TF65_HUMAN			10	1057	-			332					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.995C>A	CCDS31609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.479028|4.479028	0.84747|0.84747	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999|ENST00000526257	T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.308394|.	0.29900|.	N|.	0.010905|.	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.61703|0.61703	1.905|1.905	0.38713|0.38713	D|D	0.953263|0.953263	P;D;D;D;P;P|.	0.64830|.	0.867;0.994;0.982;0.97;0.882;0.86|.	B;P;P;P;P;B|.	0.57425|.	0.372;0.737;0.82;0.665;0.554;0.285|.	T|T	0.67719|0.67719	-0.5598|-0.5598	10|5	0.27785|.	T|.	0.31|.	-8.8835|-8.8835	12.9567|12.9567	0.58432|0.58432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	322;319;329;332;343;332|.	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5|.	.;.;.;TF65_HUMAN;.;.|.	D|M	332;332;329;343;343|66	ENSP00000384273:A332D;ENSP00000432537:A332D;ENSP00000311508:A329D;ENSP00000433526:A343D|.	ENSP00000311508:A329D|.	A|L	-|-	2|1	0|2	RELA|RELA	65179773|65179773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.691000|4.691000	0.61738|0.61738	2.125000|2.125000	0.65367|0.65367	0.555000|0.555000	0.69702|0.69702	GCT|CTG		0.622	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		51	263	1	0	1.38909e-20	1	1.55765e-20	51	263				
NRCAM	4897	broad.mit.edu	37	7	107825029	107825029	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107825029G>T	ENST00000425651.2	-	18	2064	c.2065C>A	c.(2065-2067)Cac>Aac	p.H689N	NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000379028.3_Missense_Mutation_p.H689N|NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N|NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	689	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTGGCTTGTGCATTGCATCT	0.502																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2065-2067)Cac>Aac		neuronal cell adhesion molecule							76.0	73.0	74.0					7																	107825029		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107825029G>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2065C>A	7.37:g.107825029G>T	ENSP00000401244:p.His689Asn					NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N|NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000425651.2_Missense_Mutation_p.H689N|NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N	p.H689N			Q92823	NRCAM_HUMAN			21	2535	-			689			Fibronectin type-III 1.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2065C>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.213949	0.22289	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.46	4.53	0.55603	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049726	0.85682	D	0.000000	T	0.39091	0.1065	N	0.21324	0.655	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.14023	0.008;0.005;0.01;0.006;0.004	T	0.15925	-1.0420	10	0.27785	T	0.31	.	15.0261	0.71671	0.0:0.0:0.8572:0.1428	.	689;670;670;673;689	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	689;689;670;689;673;670;689;689;673	ENSP00000368314:H689N;ENSP00000407858:H670N;ENSP00000325269:H673N;ENSP00000368310:H670N;ENSP00000401244:H689N;ENSP00000368308:H689N	ENSP00000325269:H673N	H	-	1	0	NRCAM	107612265	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.734000	0.74801	2.548000	0.85928	0.591000	0.81541	CAC		0.502	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		29	135	1	0	3.00307e-07	1	3.1154e-07	29	135				
CACNA2D3	55799	broad.mit.edu	37	3	54420803	54420803	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:54420803T>C	ENST00000474759.1	+	4	429		c.e4+2		CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GACTTACAGGTAACTGATTAT	0.383																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.e4+2		calcium channel, voltage-dependent, alpha 2/delta subunit 3							90.0	91.0	91.0					3																	54420803		1870	4109	5979	SO:0001630	splice_region_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54420803T>C	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.381+2T>C	3.37:g.54420803T>C						CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site		NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	4	429	+								B2RPL6|Q9NY16|Q9NY18	Splice_Site	SNP	ENST00000474759.1	37		CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049840	0.75846	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.203	0.54337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA2D3	54395843	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.994000	0.63901	2.199000	0.70637	0.533000	0.62120	.		0.383	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Intron	18	51	0	0	0	1	0	18	51				
NRCAM	4897	broad.mit.edu	37	7	107831702	107831702	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107831702A>C	ENST00000425651.2	-	16	1928	c.1929T>G	c.(1927-1929)gtT>gtG	p.V643V	NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000379028.3_Silent_p.V643V|NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Silent_p.V643V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTTTACCGTAAACGGGAGCTG	0.318																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1927-1929)gtT>gtG		neuronal cell adhesion molecule							59.0	60.0	60.0					7																	107831702		1825	4081	5906	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107831702A>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1929T>G	7.37:g.107831702A>C						NRCAM_ENST00000379022.4_Silent_p.V643V|NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000425651.2_Silent_p.V643V|NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000351718.4_Intron	p.V643V			Q92823	NRCAM_HUMAN			19	2399	-			643					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.1929T>G	CCDS47686.1																																																																																				0.318	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		9	47	0	0	0	1	0	9	47				
TGFBRAP1	9392	broad.mit.edu	37	2	105924245	105924245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105924245C>T	ENST00000393359.2	-	2	940	c.514G>A	c.(514-516)Gct>Act	p.A172T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	172	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ACAGCCACAGCGAGGGGCTGC	0.562																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(514-516)Gct>Act		transforming growth factor, beta receptor associated protein 1							113.0	114.0	113.0					2																	105924245		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924245C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.514G>A	2.37:g.105924245C>T	ENSP00000377027:p.Ala172Thr					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T	p.A172T			Q8WUH2	TGFA1_HUMAN			2	940	-			172			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.514G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952985	0.73902	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04406	3.63;3.63	5.32	5.32	0.75619	Citron-like (2);	0.053757	0.64402	D	0.000001	T	0.06554	0.0168	L	0.47716	1.5	0.80722	D	1	P	0.47841	0.901	B	0.40677	0.337	T	0.48801	-0.9003	10	0.10636	T	0.68	-20.6955	19.1899	0.93660	0.0:1.0:0.0:0.0	.	172	Q8WUH2	TGFA1_HUMAN	T	172	ENSP00000377027:A172T;ENSP00000258449:A172T	ENSP00000258449:A172T	A	-	1	0	TGFBRAP1	105290677	1.000000	0.71417	0.590000	0.28732	0.869000	0.49853	7.313000	0.78978	2.760000	0.94817	0.655000	0.94253	GCT		0.562	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		174	850	0	0	0	1	0	174	850				
KAT2A	2648	broad.mit.edu	37	17	40266508	40266508	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40266508G>A	ENST00000225916.5	-	14	2187	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	712					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCTGCTTACGAATGCCAGGA	0.587																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.e14+1		K(lysine) acetyltransferase 2A							199.0	192.0	194.0					17																	40266508		2203	4300	6503	SO:0001630	splice_region_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40266508G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2134+1C>T	17.37:g.40266508G>A							p.R712_splice	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			14	2187	-			712					Q8N1A2|Q9UCW1	Splice_Site	SNP	ENST00000225916.5	37	c.2134_splice	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631659	0.96682	.	.	ENSG00000108773	ENST00000225916	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.445	17.8076	0.88606	0.0:0.0:1.0:0.0	.	.	.	.	X	712	.	.	R	-	1	2	KAT2A	37520034	0.995000	0.38212	0.999000	0.59377	0.384000	0.30261	1.883000	0.39658	2.192000	0.70111	0.462000	0.41574	CGA		0.587	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078	Nonsense_Mutation	153	1102	0	0	0	1	0	153	1102				
AEBP1	165	broad.mit.edu	37	7	44144435	44144435	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44144435G>A	ENST00000223357.3	+	1	476	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	57	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGAGGCCCCGCCGCCTCCCG	0.711																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(169-171)ccG>ccA		AE binding protein 1							12.0	11.0	11.0					7																	44144435		2179	4281	6460	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44144435G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.171G>A	7.37:g.44144435G>A							p.P57P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			1	476	+			57			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.171G>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414423	0.11870	.	.	ENSG00000106624	ENST00000455443	.	.	.	3.52	1.46	0.22682	.	.	.	.	.	T	0.30947	0.0781	.	.	.	0.20074	N	0.999932	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	-9.9063	5.7451	0.18116	0.2815:0.0:0.7185:0.0	.	.	.	.	T	15	.	.	A	+	1	0	AEBP1	44110960	0.060000	0.20803	0.708000	0.30435	0.435000	0.31806	1.053000	0.30442	-0.018000	0.14079	0.511000	0.50034	GCC		0.711	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		9	57	0	0	0	1	0	9	57				
LEFTY1	10637	broad.mit.edu	37	1	226074781	226074781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226074781G>A	ENST00000272134.5	-	4	826	c.747C>T	c.(745-747)ggC>ggT	p.G249G	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Nonsense_Mutation_p.R358*	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	249					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GGTCACAGTCGCCCTGAGCTC	0.607																																						ENST00000432920.2																			0											c.(1072-1074)Cga>Tga									18.0	20.0	19.0					1																	226074781		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:226074781G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.747C>T	1.37:g.226074781G>A						LEFTY1_ENST00000272134.5_Silent_p.G249G	p.R358*							8	1239	-								B2R7U0|Q53H67|Q5TE94	Nonsense_Mutation	SNP	ENST00000272134.5	37	c.1072C>T	CCDS1548.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461120	0.63513	.	.	ENSG00000255835	ENST00000432920	.	.	.	4.33	-4.54	0.03452	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5295	0.5159	0.00603	0.3469:0.1898:0.2604:0.2029	.	.	.	.	X	358	.	ENSP00000414068:R358X	R	-	1	2	RP4-559A3.7	224141404	0.329000	0.24696	0.006000	0.13384	0.313000	0.28021	-0.599000	0.05700	-1.159000	0.02807	-1.800000	0.00619	CGA		0.607	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		33	138	0	0	0	1	0	33	138				
KIAA1549	57670	broad.mit.edu	37	7	138602828	138602828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602828C>T	ENST00000422774.1	-	2	1592	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S515N			Q9HCM3	K1549_HUMAN	KIAA1549	515	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTTGTAACACTACTCATATC	0.532			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1543-1545)aGt>aAt		KIAA1549							32.0	34.0	33.0					7																	138602828		2012	4181	6193	SO:0001583	missense	57670					integral to membrane		g.chr7:138602828C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1544G>A	7.37:g.138602828C>T	ENSP00000416040:p.Ser515Asn					KIAA1549_ENST00000422774.1_Missense_Mutation_p.S515N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N	p.S515N	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1592	-			515			Ser-rich.		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1544G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	8.531	0.871075	0.17322	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25749	1.78;1.79;1.78	4.05	2.15	0.27550	.	0.739620	0.12433	N	0.469386	T	0.14570	0.0352	L	0.27053	0.805	0.09310	N	1	B;P	0.36535	0.421;0.557	B;B	0.35971	0.107;0.215	T	0.16630	-1.0396	10	0.38643	T	0.18	.	2.382	0.04357	0.3473:0.3871:0.1687:0.097	.	515;515	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	N	515;465;515	ENSP00000406661:S515N;ENSP00000242365:S465N;ENSP00000416040:S515N	ENSP00000242365:S465N	S	-	2	0	KIAA1549	138253368	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.137000	0.31479	0.336000	0.23639	0.655000	0.94253	AGT		0.532	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			22	87	0	0	0	1	0	22	87				
ARMC3	219681	broad.mit.edu	37	10	23326238	23326238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23326238C>T	ENST00000298032.5	+	19	2533	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C|ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	817						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCCTAGTTCGCGGAGAGTA	0.542																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2449-2451)Cgc>Tgc		armadillo repeat containing 3							112.0	109.0	110.0					10																	23326238		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23326238C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2449C>T	10.37:g.23326238C>T	ENSP00000298032:p.Arg817Cys					ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C|ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C	p.R817C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			19	2533	+			817					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2449C>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509953	0.44660	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.63255	-0.03;-0.03;1.21	5.68	4.77	0.60923	.	0.063312	0.64402	D	0.000010	D	0.82848	0.5126	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87089	0.2171	10	0.87932	D	0	-7.066	16.1674	0.81777	0.1341:0.8659:0.0:0.0	.	810;817	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	817;810;554	ENSP00000298032:R817C;ENSP00000386943:R810C;ENSP00000365711:R554C	ENSP00000298032:R817C	R	+	1	0	ARMC3	23366244	1.000000	0.71417	0.085000	0.20634	0.011000	0.07611	3.600000	0.54052	1.370000	0.46153	0.655000	0.94253	CGC		0.542	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		75	329	0	0	0	1	0	75	329				
ANGPTL3	27329	broad.mit.edu	37	1	63069843	63069843	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63069843T>G	ENST00000371129.3	+	6	1215	c.1135T>G	c.(1135-1137)Ttg>Gtg	p.L379V	ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	379	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AAACAAAGATTTGGTGTTTTC	0.373																																						ENST00000371129.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(1135-1137)Ttg>Gtg		angiopoietin-like 3							108.0	111.0	110.0					1																	63069843		2203	4300	6503	SO:0001583	missense	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63069843T>G	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.1135T>G	1.37:g.63069843T>G	ENSP00000360170:p.Leu379Val					DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000404627.2_Intron	p.L379V	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN			6	1215	+			379			Fibrinogen C-terminal.		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	c.1135T>G	CCDS622.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923441	0.52653	.	.	ENSG00000132855	ENST00000371129	T	0.76578	-1.03	5.6	2.01	0.26516	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.098369	0.64402	D	0.000002	T	0.53190	0.1781	L	0.41906	1.305	0.33659	D	0.60952	P	0.51791	0.948	P	0.50570	0.644	T	0.50233	-0.8852	10	0.15952	T	0.53	.	3.4284	0.07420	0.2153:0.4539:0.0:0.3307	.	379	Q9Y5C1	ANGL3_HUMAN	V	379	ENSP00000360170:L379V	ENSP00000360170:L379V	L	+	1	2	ANGPTL3	62842431	0.982000	0.34865	0.964000	0.40570	0.724000	0.41520	2.327000	0.43858	0.420000	0.25954	0.533000	0.62120	TTG		0.373	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		109	411	0	0	0	1	0	109	411				
KCNJ1	3758	broad.mit.edu	37	11	128709054	128709054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128709054G>A	ENST00000392664.2	-	2	1258	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	KCNJ1_ENST00000392665.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	381					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATTGACTTCTGACAAGATGAA	0.433																																						ENST00000392665.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(1084-1086)tCa>tTa		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						123.0	107.0	113.0					11																	128709054		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709054G>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.1142C>T	11.37:g.128709054G>A	ENSP00000376432:p.Ser381Leu					KCNJ1_ENST00000392664.2_Missense_Mutation_p.S381L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L	p.S362L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	1229	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	381					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.1085C>T	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	2.846	-0.239413	0.05944	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.39	5.61	4.67	0.58626	.	0.761422	0.12512	N	0.462434	T	0.76962	0.4061	N	0.08118	0	0.30629	N	0.757678	B	0.14012	0.009	B	0.06405	0.002	T	0.63093	-0.6714	10	0.08837	T	0.75	.	14.3961	0.67013	0.0:0.0:0.7371:0.2629	.	381	P48048	IRK1_HUMAN	L	362;362;362;362;381	ENSP00000376433:S362L;ENSP00000376434:S362L;ENSP00000406320:S362L;ENSP00000316233:S362L;ENSP00000376432:S381L	ENSP00000316233:S362L	S	-	2	0	KCNJ1	128214264	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.657000	0.61490	2.635000	0.89317	0.563000	0.77884	TCA		0.433	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		38	214	0	0	0	1	0	38	214				
FNTA	2339	broad.mit.edu	37	8	42919301	42919301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42919301G>A	ENST00000302279.3	+	3	538	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	115					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGAAGTGAACGAGCTTTTAAG	0.383																																						ENST00000302279.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(343-345)cGa>cAa		farnesyltransferase, CAAX box, alpha							194.0	182.0	186.0					8																	42919301		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42919301G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.344G>A	8.37:g.42919301G>A	ENSP00000303423:p.Arg115Gln					FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q|FNTA_ENST00000529687.1_5'UTR	p.R115Q	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		3	538	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	115					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.344G>A	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519814	0.96416	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88255	0.2919	9	0.87932	D	0	-14.361	15.8992	0.79359	0.0:0.0:1.0:0.0	.	24;115	A8MVX8;P49354	.;FNTA_HUMAN	Q	72;115;97;53	.	ENSP00000303423:R115Q	R	+	2	0	FNTA;RP11-598P20.5	43038458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.536000	0.98067	2.335000	0.79485	0.555000	0.69702	CGA		0.383	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		109	550	0	0	0	1	0	109	550				
SYF2	25949	broad.mit.edu	37	1	25549848	25549848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25549848C>A	ENST00000236273.4	-	7	666	c.641G>T	c.(640-642)aGg>aTg	p.R214M	SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	214					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTTGGCATTCCTTTCATTAAT	0.353																																						ENST00000236273.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(640-642)aGg>aTg		SYF2 pre-mRNA-splicing factor							189.0	193.0	192.0					1																	25549848		2203	4300	6503	SO:0001583	missense	25949					catalytic step 2 spliceosome		g.chr1:25549848C>A	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.641G>T	1.37:g.25549848C>A	ENSP00000236273:p.Arg214Met					SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	p.R214M	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	7	666	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	214					Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	37	c.641G>T	CCDS259.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925336	0.52759	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.55052	0.54;0.58	5.56	4.65	0.58169	.	0.130232	0.64402	D	0.000001	T	0.78444	0.4284	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.84341	0.0527	10	0.87932	D	0	-30.8613	13.5045	0.61477	0.0:0.9238:0.0:0.0762	.	214;214	B2RBX8;O95926	.;SYF2_HUMAN	M	214;172	ENSP00000236273:R214M;ENSP00000346330:R172M	ENSP00000236273:R214M	R	-	2	0	SYF2	25422435	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	7.409000	0.80053	1.491000	0.48482	-0.140000	0.14226	AGG		0.353	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		124	413	1	0	1.58838e-66	1	2.01039e-66	124	413				
ERC1	23085	broad.mit.edu	37	12	1219453	1219453	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1219453G>T	ENST00000397203.2	+	5	1663	c.1257G>T	c.(1255-1257)agG>agT	p.R419S	ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.R419S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	419					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTGAGGAAAGGGAAGAAGAAA	0.388																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1255-1257)agG>agT		ELKS/RAB6-interacting/CAST family member 1							115.0	117.0	116.0					12																	1219453		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1219453G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1257G>T	12.37:g.1219453G>T	ENSP00000380386:p.Arg419Ser					ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000355446.5_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S	p.R419S			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		5	1663	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		419					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1257G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492438	0.64074	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.93	1.33	0.21861	.	0.059501	0.64402	D	0.000001	T	0.69717	0.3142	L	0.54323	1.7	0.49213	D	0.999763	P;D;D;D;D	0.64830	0.917;0.974;0.994;0.993;0.988	P;P;P;P;D	0.65233	0.557;0.786;0.856;0.863;0.933	T	0.67845	-0.5565	10	0.10636	T	0.68	-17.5835	2.8857	0.05660	0.2938:0.0969:0.463:0.1462	.	195;56;419;419;419	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	S	419;419;419;419;419;419;419;419;419;419;195;56	ENSP00000340054:R419S;ENSP00000380386:R419S;ENSP00000438546:R419S;ENSP00000445336:R419S;ENSP00000442739:R419S;ENSP00000347621:R419S;ENSP00000354158:R419S;ENSP00000410064:R419S	ENSP00000340054:R419S	R	+	3	2	ERC1	1089714	0.221000	0.23642	0.999000	0.59377	0.900000	0.52787	-0.547000	0.06055	0.356000	0.24157	0.585000	0.79938	AGG		0.388	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		52	282	1	0	4.17463e-26	1	4.80398e-26	52	282				
CUEDC2	79004	broad.mit.edu	37	10	104183780	104183780	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104183780C>T	ENST00000369937.4	-	6	712	c.567G>A	c.(565-567)ggG>ggA	p.G189G	PSD_ENST00000492902.2_5'Flank|CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	189						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGCTGCAGGCCCCTCTTCCT	0.597																																						ENST00000369937.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(565-567)ggG>ggA		CUE domain containing 2							32.0	35.0	34.0					10																	104183780		1917	4117	6034	SO:0001819	synonymous_variant	79004					cytoplasm|nucleus	protein binding	g.chr10:104183780C>T	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.567G>A	10.37:g.104183780C>T						CUEDC2_ENST00000465409.1_5'UTR	p.G189G	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	712	-		Colorectal(252;0.122)	189					D3DR88|Q9BWG8	Silent	SNP	ENST00000369937.4	37	c.567G>A	CCDS41566.1																																																																																				0.597	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		50	226	0	0	0	1	0	50	226				
TMEM38A	79041	broad.mit.edu	37	19	16791297	16791297	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16791297T>G	ENST00000187762.2	+	3	462	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	124						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATGAAGGAGGTGGTGCGAGTC	0.542																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(370-372)gTg>gGg		transmembrane protein 38A							207.0	191.0	197.0					19																	16791297		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16791297T>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.371T>G	19.37:g.16791297T>G	ENSP00000187762:p.Val124Gly						p.V124G	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			3	462	+			124					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.371T>G	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.675985	0.88445	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82824	-0.0266	9	0.87932	D	0	-30.6057	14.1028	0.65068	0.0:0.0:0.0:1.0	.	124	Q9H6F2	TM38A_HUMAN	G	124	.	ENSP00000187762:V124G	V	+	2	0	TMEM38A	16652297	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.903000	0.87398	1.991000	0.58162	0.459000	0.35465	GTG		0.542	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		245	1012	0	0	0	1	0	245	1012				
ETS2	2114	broad.mit.edu	37	21	40191600	40191600	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191600A>G	ENST00000360214.3	+	9	1445	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	329					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TAAGCCAACCATGTCTTTCAA	0.537																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(985-987)Atg>Gtg		v-ets avian erythroblastosis virus E26 oncogene homolog 2							74.0	62.0	66.0					21																	40191600		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40191600A>G		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.985A>G	21.37:g.40191600A>G	ENSP00000353344:p.Met329Val					ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	p.M329V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			9	1445	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	329					A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.985A>G	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295585	0.23564	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.12039	2.72;2.72	5.9	5.9	0.94986	.	0.293939	0.42821	D	0.000653	T	0.12732	0.0309	L	0.38838	1.175	0.41499	D	0.988279	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.16420	T	0.52	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	329	P15036	ETS2_HUMAN	V	329	ENSP00000353344:M329V;ENSP00000354194:M329V	ENSP00000353344:M329V	M	+	1	0	ETS2	39113470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.507000	0.60434	2.251000	0.74343	0.528000	0.53228	ATG		0.537	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			14	110	0	0	0	1	0	14	110				
PSMC1	5700	broad.mit.edu	37	14	90735847	90735847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90735847G>A	ENST00000261303.8	+	9	1091	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AGTTATCATGGCCACAAACCG	0.388																																						ENST00000261303.8																			0				endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6						c.(988-990)Gcc>Acc		proteasome (prosome, macropain) 26S subunit, ATPase, 1							138.0	137.0	138.0					14																	90735847		2203	4298	6501	SO:0001583	missense	5700				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr14:90735847G>A	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.988G>A	14.37:g.90735847G>A	ENSP00000261303:p.Ala330Thr					PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	p.A330T	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	9	1091	+		all_cancers(154;0.142)	330					B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	c.988G>A	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717645	0.89205	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94576	-3.46;-3.46	4.92	4.01	0.46588	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.148921	0.64402	D	0.000012	D	0.95658	0.8588	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95992	0.8986	10	0.87932	D	0	-16.7283	14.7381	0.69430	0.0:0.0:0.854:0.146	.	330	P62191	PRS4_HUMAN	T	330;257	ENSP00000261303:A330T;ENSP00000445147:A257T	ENSP00000261303:A330T	A	+	1	0	PSMC1	89805600	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.830000	0.99415	1.166000	0.42689	0.563000	0.77884	GCC		0.388	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		68	487	0	0	0	1	0	68	487				
LOC101927924	101927924	broad.mit.edu	37	2	130681192	130681192	+	lincRNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130681192C>A	ENST00000450840.1	+	0	105				AC079776.2_ENST00000433290.1_RNA																							AGGCCAGGTCCTCTAGCAGGC	0.632																																						ENST00000450840.1																			0																																																			0							g.chr2:130681192C>A																													2.37:g.130681192C>A						AC079776.2_ENST00000433290.1_RNA								0	105	+									RNA	SNP	ENST00000450840.1	37																																																																																						0.632	AC079776.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331345.1			7	57	1	0	8.12818e-05	1	8.2724e-05	7	57				
MOCS2	4338	broad.mit.edu	37	5	52396257	52396257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52396257A>G	ENST00000396954.3	-	6	1162	c.485T>C	c.(484-486)gTg>gCg	p.V162A	MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCATATGGGCACCTTGGCTTT	0.403																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(484-486)gTg>gCg		molybdenum cofactor synthesis 2							90.0	93.0	92.0					5																	52396257		2203	4300	6503	SO:0001583	missense	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52396257A>G	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.485T>C	5.37:g.52396257A>G	ENSP00000380157:p.Val162Ala					MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000510818.2_3'UTR	p.V162A	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			6	1162	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Missense_Mutation	SNP	ENST00000396954.3	37	c.485T>C	CCDS3958.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497555	0.85069	.	.	ENSG00000164172	ENST00000396954	T	0.22539	1.95	5.65	5.65	0.86999	.	0.123423	0.56097	D	0.000038	T	0.41259	0.1151	M	0.62154	1.92	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.08889	-1.0700	10	0.33940	T	0.23	-7.8556	15.3584	0.74448	1.0:0.0:0.0:0.0	.	162	O96007	MOC2B_HUMAN	A	162	ENSP00000380157:V162A	ENSP00000380157:V162A	V	-	2	0	MOCS2	52432014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.373000	0.79623	2.279000	0.76181	0.533000	0.62120	GTG		0.403	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		54	277	0	0	0	1	0	54	277				
LOC101926911	101926911	broad.mit.edu	37	15	91578446	91578446	+	RNA	SNP	G	G	A	rs552827995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91578446G>A	ENST00000557804.1	+	0	764																											AGCTGTGCCCGCTCCTCCATG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18664	0.0		0.0	False		,,,				2504	0.001					ENST00000557804.1																			0																																																			0							g.chr15:91578446G>A																													15.37:g.91578446G>A														0	764	+									RNA	SNP	ENST00000557804.1	37																																																																																						0.572	AC068831.10-004	KNOWN	basic	antisense	antisense	OTTHUMT00000418639.1			11	126	0	0	0	1	0	11	126				
FAM53C	51307	broad.mit.edu	37	5	137681135	137681135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681135C>T	ENST00000239906.5	+	4	1186	c.758C>T	c.(757-759)gCa>gTa	p.A253V	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	253										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCTCTCCCGCATCCTCCCCA	0.657																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(757-759)gCa>gTa		family with sequence similarity 53, member C							50.0	60.0	56.0					5																	137681135		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681135C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.758C>T	5.37:g.137681135C>T	ENSP00000239906:p.Ala253Val					FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V	p.A253V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1186	+			253					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.758C>T	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.346|9.346	1.064224|1.064224	0.20067|0.20067	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000434981;ENST00000239906|ENST00000513056	T;T|T	0.45668|0.50277	0.89;0.89|0.75	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.257566|.	0.40469|.	N|.	0.001100|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.47190|0.47190	1.495|1.495	0.29900|0.29900	N|N	0.824489|0.824489	B|P	0.33238|0.52692	0.403|0.955	B|B	0.22601|0.41088	0.04|0.347	T|T	0.54050|0.54050	-0.8351|-0.8351	10|9	0.66056|0.66056	D|D	0.02|0.02	-3.7722|-3.7722	18.4386|18.4386	0.90656|0.90656	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|63	Q9NYF3|D6RE00	FA53C_HUMAN|.	V|Y	253|63	ENSP00000403705:A253V;ENSP00000239906:A253V|ENSP00000425154:H63Y	ENSP00000239906:A253V|ENSP00000425154:H63Y	A|H	+|+	2|1	0|0	FAM53C|FAM53C	137709034|137709034	0.675000|0.675000	0.27558|0.27558	0.775000|0.775000	0.31657|0.31657	0.053000|0.053000	0.15095|0.15095	3.901000|3.901000	0.56303|0.56303	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.657	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		147	577	0	0	0	1	0	147	577				
BPIFB1	92747	broad.mit.edu	37	20	31885345	31885345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31885345C>T	ENST00000253354.1	+	7	773	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	204					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GTCCCGTGATCGAGGCTTCCT	0.602																																						ENST00000253354.1																			0											c.(610-612)atC>atT		BPI fold containing family B, member 1							202.0	164.0	177.0					20																	31885345		2203	4300	6503	SO:0001819	synonymous_variant	92747					extracellular space	lipid binding	g.chr20:31885345C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.612C>T	20.37:g.31885345C>T							p.I204I	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			7	773	+			204					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP	ENST00000253354.1	37	c.612C>T	CCDS13218.1																																																																																				0.602	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		52	522	0	0	0	1	0	52	522				
TRRAP	8295	broad.mit.edu	37	7	98592299	98592299	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592299C>T	ENST00000359863.4	+	66	10304	c.10095C>T	c.(10093-10095)ccC>ccT	p.P3365P	TRRAP_ENST00000355540.3_Silent_p.P3336P|TRRAP_ENST00000446306.3_Silent_p.P3354P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3365					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATCACCCCCCACACTCTCA	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10093-10095)ccC>ccT		transformation/transcription domain-associated protein							194.0	185.0	188.0					7																	98592299		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592299C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10095C>T	7.37:g.98592299C>T						TRRAP_ENST00000355540.3_Silent_p.P3336P|TRRAP_ENST00000446306.3_Silent_p.P3354P	p.P3365P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10304	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3365					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.10095C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.904	0.957124	0.18507	.	.	ENSG00000196367	ENST00000456197	T	0.03124	4.04	5.05	-8.0	0.01126	.	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	7	0.49607	T	0.09	.	1.4586	0.02391	0.1617:0.2501:0.2958:0.2925	.	.	.	.	L	3094	ENSP00000394645:P3094L	ENSP00000394645:P3094L	P	+	2	0	TRRAP	98430235	0.000000	0.05858	0.884000	0.34674	0.963000	0.63663	-2.000000	0.01466	-1.255000	0.02481	0.462000	0.41574	CCC		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		260	1043	0	0	0	1	0	260	1043				
PCDH11X	27328	broad.mit.edu	37	X	91090959	91090959	+	Silent	SNP	G	G	A	rs148082586		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090959G>A	ENST00000373094.1	+	1	1301	c.456G>A	c.(454-456)tcG>tcA	p.S152S	PCDH11X_ENST00000395337.2_Silent_p.S152S|PCDH11X_ENST00000373088.1_Silent_p.S152S|PCDH11X_ENST00000361655.2_Silent_p.S152S|PCDH11X_ENST00000361724.1_Silent_p.S152S|PCDH11X_ENST00000504220.2_Silent_p.S152S|PCDH11X_ENST00000406881.1_Silent_p.S152S|PCDH11X_ENST00000298274.8_Silent_p.S152S|PCDH11X_ENST00000373097.1_Silent_p.S152S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGAGAACTCGGCTATAAACT	0.358																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(454-456)tcG>tcA		protocadherin 11 X-linked		G	,,,,,,,	1,3794		0,1,1613,567	20.0	22.0	21.0		456,456,456,456,456,456,456,456	-8.9	0.3	X	dbSNP_134	21	0,6698		0,0,2420,1858	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDH11X	NM_001168360.1,NM_001168361.1,NM_001168362.1,NM_001168363.1,NM_014522.1,NM_032967.2,NM_032968.3,NM_032969.3	,,,,,,,	0,1,4033,2425	AA,AG,GG,G		0.0,0.0264,0.0095	,,,,,,,	152/1340,152/1066,152/1311,152/1330,152/1022,152/1026,152/1348,152/1338	91090959	1,10492	2181	4278	6459	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090959G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.456G>A	X.37:g.91090959G>A						PCDH11X_ENST00000373097.1_Silent_p.S152S|PCDH11X_ENST00000361724.1_Silent_p.S152S|PCDH11X_ENST00000298274.8_Silent_p.S152S|PCDH11X_ENST00000361655.2_Silent_p.S152S|PCDH11X_ENST00000373088.1_Silent_p.S152S|PCDH11X_ENST00000395337.2_Silent_p.S152S|PCDH11X_ENST00000406881.1_Silent_p.S152S|PCDH11X_ENST00000504220.1_Silent_p.S152S	p.S152S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1301	+			152			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.456G>A	CCDS14461.1																																																																																				0.358	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		8	258	0	0	0	1	0	8	258				
KRT31	3881	broad.mit.edu	37	17	39551317	39551317	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39551317C>T	ENST00000251645.2	-	6	932	c.880G>A	c.(880-882)Gac>Aac	p.D294N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	294	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAGAGAGTCTCGCTGTGGT	0.547																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(880-882)Gac>Aac		keratin 31							50.0	49.0	49.0					17																	39551317		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551317C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.880G>A	17.37:g.39551317C>T	ENSP00000251645:p.Asp294Asn						p.D294N	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			6	932	-		Breast(137;0.000496)	294			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.880G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	9.320	1.057790	0.19907	.	.	ENSG00000094796	ENST00000251645	D	0.89123	-2.47	5.62	-0.748	0.11087	Filament (1);	0.271361	0.32671	N	0.005792	T	0.77452	0.4132	N	0.25144	0.715	0.21355	N	0.999718	B	0.02656	0.0	B	0.04013	0.001	T	0.62172	-0.6910	10	0.24483	T	0.36	.	9.9863	0.41843	0.0:0.3794:0.0:0.6206	.	294	Q15323	K1H1_HUMAN	N	294	ENSP00000251645:D294N	ENSP00000251645:D294N	D	-	1	0	KRT31	36804843	0.000000	0.05858	0.865000	0.33974	0.439000	0.31926	-0.763000	0.04740	0.100000	0.17581	-0.355000	0.07637	GAC		0.547	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		52	211	0	0	0	1	0	52	211				
FADS3	3995	broad.mit.edu	37	11	61645639	61645639	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61645639A>G	ENST00000278829.2	-	6	948	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H|FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H|FADS3_ENST00000540820.1_Missense_Mutation_p.Y266H	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	266					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAAGAAGTACAGGTGCTGC	0.602																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(796-798)Tac>Cac		fatty acid desaturase 3							257.0	215.0	229.0					11																	61645639		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61645639A>G		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.796T>C	11.37:g.61645639A>G	ENSP00000278829:p.Tyr266His					FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H|FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H|FADS3_ENST00000278829.2_Missense_Mutation_p.Y266H	p.Y266H			Q9Y5Q0	FADS3_HUMAN			6	868	-			266					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.796T>C	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.058693	0.76074	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.35	4.18	0.49190	Fatty acid desaturase, type 1 (1);	.	.	.	.	D	0.87063	0.6084	H	0.94847	3.59	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89775	0.3957	9	0.87932	D	0	-10.4061	11.4256	0.50009	0.8493:0.1507:0.0:0.0	.	142;266	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	H	142;266;266;238;142;142	ENSP00000431533:Y142H;ENSP00000278829:Y266H;ENSP00000439308:Y266H;ENSP00000432206:Y238H;ENSP00000436890:Y142H;ENSP00000434551:Y142H	ENSP00000278829:Y266H	Y	-	1	0	FADS3	61402215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.605000	0.82844	2.041000	0.60428	0.533000	0.62120	TAC		0.602	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			122	580	0	0	0	1	0	122	580				
CPO	130749	broad.mit.edu	37	2	207824432	207824432	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824432T>C	ENST00000272852.3	+	5	496	c.450T>C	c.(448-450)ctT>ctC	p.L150L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	150						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TTCCAGTTCTTAACATAGATG	0.373																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(448-450)ctT>ctC		carboxypeptidase O							118.0	111.0	113.0					2																	207824432		2203	4300	6503	SO:0001819	synonymous_variant	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207824432T>C		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.450T>C	2.37:g.207824432T>C							p.L150L	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	5	496	+			150					Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	c.450T>C	CCDS2372.1																																																																																				0.373	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		7	271	0	0	0	1	0	7	271				
PTRF	284119	broad.mit.edu	37	17	40557079	40557079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557079G>A	ENST00000357037.5	-	2	1218	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGGGTGTGCCGCGTCTTCTCC	0.607																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(799-801)Cgg>Tgg		polymerase I and transcript release factor							123.0	109.0	113.0					17																	40557079		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557079G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.799C>T	17.37:g.40557079G>A	ENSP00000349541:p.Arg267Trp						p.R267W	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1218	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	267						Missense_Mutation	SNP	ENST00000357037.5	37	c.799C>T	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340340	0.60963	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.66815	-0.23	5.81	3.64	0.41730	.	0.150034	0.41823	D	0.000818	T	0.78233	0.4251	L	0.61218	1.895	0.36143	D	0.846923	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	D	0.85280	0.1061	10	0.87932	D	0	-14.7881	15.557	0.76203	0.0:0.0:0.6534:0.3466	.	249;267	B4DNU9;Q6NZI2	.;PTRF_HUMAN	W	267;222	ENSP00000349541:R267W	ENSP00000349541:R267W	R	-	1	2	PTRF	37810605	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.337000	0.52120	1.463000	0.47967	-0.289000	0.09944	CGG		0.607	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		81	354	0	0	0	1	0	81	354				
IFT80	57560	broad.mit.edu	37	3	160073820	160073820	+	Missense_Mutation	SNP	C	C	T	rs144738877	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073820C>T	ENST00000326448.7	-	8	1190	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H|IFT80_ENST00000496589.1_Missense_Mutation_p.R116H|IFT80_ENST00000483465.1_Missense_Mutation_p.R116H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	253					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCACACAAGCGTAAAGTATG	0.423																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(757-759)cGc>cAc		intraflagellar transport 80 homolog (Chlamydomonas)		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	144.0	132.0	136.0		758,347,347	5.4	1.0	3	dbSNP_134	136	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	IFT80	NM_020800.2,NM_001190242.1,NM_001190241.1	29,29,29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign,benign,benign	253/778,116/641,116/641	160073820	5,13001	2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160073820C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.758G>A	3.37:g.160073820C>T	ENSP00000312778:p.Arg253His					IFT80_ENST00000496589.1_Missense_Mutation_p.R116H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H|IFT80_ENST00000483465.1_Missense_Mutation_p.R116H	p.R253H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		8	1190	-			253					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.758G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650169	0.67472	0.0	5.81E-4	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.210664	0.27384	U	0.019619	T	0.73289	0.3568	M	0.84846	2.72	0.80722	D	1	B	0.24368	0.102	B	0.23419	0.046	T	0.73889	-0.3840	10	0.66056	D	0.02	-15.0695	19.1062	0.93296	0.0:1.0:0.0:0.0	.	253	Q9P2H3	IFT80_HUMAN	H	253;116;116;116	ENSP00000312778:R253H;ENSP00000418196:R116H;ENSP00000420646:R116H;ENSP00000418602:R116H	ENSP00000312778:R253H	R	-	2	0	IFT80	161556514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	2.520000	0.84964	0.655000	0.94253	CGC		0.423	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		89	445	0	0	0	1	0	89	445				
ZNF613	79898	broad.mit.edu	37	19	52448557	52448557	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448557A>G	ENST00000293471.6	+	6	2100	c.1421A>G	c.(1420-1422)cAc>cGc	p.H474R	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCATTAACCACCAGAGAATT	0.418																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1420-1422)cAc>cGc		zinc finger protein 613							77.0	71.0	73.0					19																	52448557		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448557A>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1421A>G	19.37:g.52448557A>G	ENSP00000293471:p.His474Arg					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R	p.H474R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2100	+		all_neural(266;0.117)	474					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1421A>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523677	0.64747	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	D;D	0.86865	-2.18;-2.18	3.36	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002058	D	0.94542	0.8242	H	0.94964	3.605	0.35510	D	0.800563	D	0.89917	1.0	D	0.91635	0.999	D	0.97054	0.9766	10	0.87932	D	0	.	11.2125	0.48806	1.0:0.0:0.0:0.0	.	474	Q6PF04	ZN613_HUMAN	R	474;438;148	ENSP00000293471:H474R;ENSP00000375671:H438R	ENSP00000293471:H474R	H	+	2	0	ZNF613	57140369	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.074000	0.64401	1.543000	0.49345	0.533000	0.62120	CAC		0.418	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		61	280	0	0	0	1	0	61	280				
MAGEA3	4102	broad.mit.edu	37	X	151935444	151935444	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151935444A>C	ENST00000393902.3	-	3	1290	c.723T>G	c.(721-723)gaT>gaG	p.D241E	MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	241	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCTTGGGATCCCCCAAGA	0.542																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(721-723)gaT>gaG		melanoma antigen family A, 3							147.0	140.0	143.0					X																	151935444		2202	4293	6495	SO:0001583	missense	4102							g.chrX:151935444A>C		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.723T>G	X.37:g.151935444A>C	ENSP00000377480:p.Asp241Glu					MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E	p.D241E			P43357	MAGA3_HUMAN			3	1290	-	Acute lymphoblastic leukemia(192;6.56e-05)		241			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.723T>G	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.022220	0.00414	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.04551	3.6;3.6	1.42	-2.84	0.05751	.	0.209202	0.47852	N	0.000214	T	0.00784	0.0026	N	0.00329	-1.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	10	0.02654	T	1	.	2.0781	0.03628	0.41:0.2959:0.0:0.294	.	241	P43357	MAGA3_HUMAN	E	241	ENSP00000359301:D241E;ENSP00000377480:D241E	ENSP00000359301:D241E	D	-	3	2	MAGEA3	151686100	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.106000	0.03319	-0.868000	0.04058	-1.030000	0.02411	GAT		0.542	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		206	701	0	0	0	1	0	206	701				
YTHDC2	64848	broad.mit.edu	37	5	112849636	112849636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112849636G>T	ENST00000161863.4	+	1	257	c.44G>T	c.(43-45)gGc>gTc	p.G15V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G15V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	15	Gly-rich.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCGGCTCCTGGCGGTGGCGGA	0.706																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(43-45)gGc>gTc		YTH domain containing 2							7.0	8.0	8.0					5																	112849636		2038	3998	6036	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112849636G>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.44G>T	5.37:g.112849636G>T	ENSP00000161863:p.Gly15Val					YTHDC2_ENST00000515883.1_Missense_Mutation_p.G15V	p.G15V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	1	257	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	15			Gly-rich.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.44G>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	4.005	-0.001738	0.07819	.	.	ENSG00000047188	ENST00000161863;ENST00000515883	T;T	0.08102	4.12;3.13	4.23	1.2	0.21068	.	0.371841	0.19490	N	0.113018	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	10	0.51188	T	0.08	.	5.7402	0.18089	0.1115:0.3936:0.4949:0.0	.	15	Q9H6S0	YTDC2_HUMAN	V	15	ENSP00000161863:G15V;ENSP00000423101:G15V	ENSP00000161863:G15V	G	+	2	0	YTHDC2	112877535	0.976000	0.34144	0.002000	0.10522	0.004000	0.04260	2.975000	0.49281	0.308000	0.22923	-0.502000	0.04539	GGC		0.706	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		37	95	1	0	1.67305e-13	1	1.80725e-13	37	95				
INPPL1	3636	broad.mit.edu	37	11	71948167	71948167	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71948167G>T	ENST00000298229.2	+	26	3083		c.e26-1		PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Splice_Site|INPPL1_ENST00000541756.1_Splice_Site	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCACACCCAGGTTGAAGCCA	0.582																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e26-1		inositol polyphosphate phosphatase-like 1							56.0	64.0	61.0					11																	71948167		2200	4293	6493	SO:0001630	splice_region_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948167G>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2880-1G>T	11.37:g.71948167G>T						INPPL1_ENST00000298229.2_Splice_Site|INPPL1_ENST00000538751.1_Splice_Site				O15357	SHIP2_HUMAN			26	3083	+								B2RTX5|Q13577|Q13578	Splice_Site	SNP	ENST00000298229.2	37		CCDS8213.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429636	0.43122	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.622	0.68594	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPPL1	71625815	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.309000	0.72825	2.513000	0.84729	0.563000	0.77884	.		0.582	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	Intron	108	459	1	0	1.15724e-44	1	1.41663e-44	108	459				
OR2W5	441932	broad.mit.edu	37	1	247654999	247654999	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654999G>A	ENST00000522351.1	+	0	630							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCTTGTGAGGAAACCATGC	0.572																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															139.0	140.0	139.0					1																	247654999		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654999G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654999G>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	630	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.572	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		204	585	0	0	0	1	0	204	585				
SAMD9L	219285	broad.mit.edu	37	7	92760879	92760879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92760879G>A	ENST00000318238.4	-	5	5622	c.4406C>T	c.(4405-4407)tCc>tTc	p.S1469F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1469					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCTGCTTGGACCTGCACAT	0.398																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4405-4407)tCc>tTc		sterile alpha motif domain containing 9-like							150.0	140.0	144.0					7																	92760879		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92760879G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4406C>T	7.37:g.92760879G>A	ENSP00000326247:p.Ser1469Phe					SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F	p.S1469F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5622	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1469					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.4406C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398691	0.42512	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.24908	1.83;1.83;1.83	5.22	4.26	0.50523	.	0.251965	0.32518	N	0.005995	T	0.27697	0.0681	L	0.56769	1.78	0.26349	N	0.977236	B	0.15473	0.013	B	0.14578	0.011	T	0.21008	-1.0258	10	0.72032	D	0.01	-7.544	14.055	0.64761	0.0851:0.0:0.9149:0.0	.	1469	Q8IVG5	SAM9L_HUMAN	F	1469;1469;1469;291	ENSP00000326247:S1469F;ENSP00000405760:S1469F;ENSP00000408796:S1469F	ENSP00000326247:S1469F	S	-	2	0	SAMD9L	92598815	0.014000	0.17966	0.986000	0.45419	0.848000	0.48234	1.075000	0.30716	2.716000	0.92895	0.467000	0.42956	TCC		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		211	792	0	0	0	1	0	211	792				
ZBBX	79740	broad.mit.edu	37	3	167078481	167078481	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167078481G>T	ENST00000392766.2	-	7	644	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M|ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	102						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTCCTTCAGCAATTTTAAT	0.254																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(304-306)Ctg>Atg		zinc finger, B-box domain containing							37.0	38.0	38.0					3																	167078481		1778	4036	5814	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167078481G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.304C>A	3.37:g.167078481G>T	ENSP00000376519:p.Leu102Met					ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M|ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M|ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000469220.1_Intron	p.L102M	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			7	644	-			102					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.304C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752272	0.49362	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.40756	2.36;2.36;2.37;2.37;2.19;1.02	5.71	3.92	0.45320	.	.	.	.	.	T	0.59142	0.2172	M	0.66939	2.045	0.32798	N	0.500289	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67647	-0.5617	9	0.66056	D	0.02	-2.8561	8.7091	0.34374	0.1735:0.0:0.8265:0.0	.	102;102	A8MT70-2;A8MT70	.;ZBBX_HUMAN	M	102;102;102;102;73;102	ENSP00000376519:L102M;ENSP00000376520:L102M;ENSP00000390232:L102M;ENSP00000305065:L102M;ENSP00000376517:L73M;ENSP00000419307:L102M	ENSP00000305065:L102M	L	-	1	2	ZBBX	168561175	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.899000	0.56288	0.887000	0.36136	0.650000	0.86243	CTG		0.254	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		21	121	1	0	9.57634e-11	1	1.01752e-10	21	121				
MUC16	94025	broad.mit.edu	37	19	9089523	9089523	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089523C>T	ENST00000397910.4	-	1	2495	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	764	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGCTGGGCTTTGTCTTTG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2290-2292)aaG>aaA		mucin 16, cell surface associated							206.0	209.0	208.0					19																	9089523		2083	4225	6308	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089523C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2292G>A	19.37:g.9089523C>T							p.K764K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2495	-			764			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2292G>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		130	613	0	0	0	1	0	130	613				
AQP7	364	broad.mit.edu	37	9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A	rs373454335		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACCCCCCACCCCTCAACACA	0.602																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(409-411)gGg>gTg		aquaporin 7																																				SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385585C>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.410G>T	9.37:g.33385585C>A	ENSP00000438860:p.Gly137Val					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.G137V			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	859	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.410G>T		.	.	.	.	.	.	.	.	.	.	c	6.340	0.430890	0.12045	.	.	ENSG00000165269	ENST00000541274	T	0.58940	0.3	4.16	-1.14	0.09741	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.09310	N	1	B	0.34372	0.451	B	0.31686	0.134	T	0.32929	-0.9888	8	0.87932	D	0	.	3.9387	0.09316	0.0:0.3773:0.1846:0.4381	.	137	B7Z7F6	.	V	137	ENSP00000438860:G137V	ENSP00000438860:G137V	G	-	2	0	AQP7	33375585	0.004000	0.15560	0.024000	0.17045	0.041000	0.13682	0.014000	0.13333	-0.108000	0.12066	-0.270000	0.10280	GGG		0.602	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	286	1	0	0.000274275	1	0.000278163	6	286				
USP45	85015	broad.mit.edu	37	6	99883713	99883713	+	Missense_Mutation	SNP	G	G	A	rs375582786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99883713G>A	ENST00000327681.6	-	18	2856	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	USP45_ENST00000369233.2_Missense_Mutation_p.A727V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	775	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATTATCAGCCGCTTTCAAACC	0.368																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(2323-2325)gCg>gTg		ubiquitin specific peptidase 45		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	91.0	92.0	92.0		2324	4.5	0.9	6		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP45	NM_001080481.1	64	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	775/815	99883713	3,13003	2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99883713G>A	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2324C>T	6.37:g.99883713G>A	ENSP00000333376:p.Ala775Val					USP45_ENST00000369233.2_Missense_Mutation_p.A727V|USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V	p.A775V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	18	2856	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	775					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.2324C>T	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743813	0.30865	4.54E-4	1.16E-4	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.43688	2.21;3.69;3.69;0.94;3.69	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.109289	0.64402	D	0.000008	T	0.13243	0.0321	N	0.19112	0.55	0.80722	D	1	B;B	0.32939	0.275;0.391	B;B	0.32465	0.146;0.031	T	0.05784	-1.0864	10	0.52906	T	0.07	.	7.6188	0.28173	0.0:0.0704:0.1431:0.7865	.	775;455	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	V	455;775;775;68;727	ENSP00000376495:A455V;ENSP00000424372:A775V;ENSP00000333376:A775V;ENSP00000439569:A68V;ENSP00000358236:A727V	ENSP00000333376:A775V	A	-	2	0	USP45	99990434	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	4.699000	0.61796	0.970000	0.38263	-0.264000	0.10439	GCG		0.368	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		72	292	0	0	0	1	0	72	292				
SYNE1	23345	broad.mit.edu	37	6	152683354	152683354	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152683354C>A	ENST00000367255.5	-	64	10851	c.10250G>T	c.(10249-10251)aGg>aTg	p.R3417M	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3417					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGCATGCTGCCTTTCTGATTC	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10249-10251)aGg>aTg		spectrin repeat containing, nuclear envelope 1							134.0	119.0	124.0					6																	152683354		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152683354C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10250G>T	6.37:g.152683354C>A	ENSP00000356224:p.Arg3417Met	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M	p.R3417M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	64	10851	-		Ovarian(120;0.0955)	3417					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10250G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713306	0.30413	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.28	4.39	0.52855	.	0.096293	0.44285	D	0.000461	T	0.37461	0.1004	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.65815	0.992;0.992;0.992;0.995	P;P;P;P	0.61800	0.786;0.786;0.786;0.894	T	0.22173	-1.0224	10	0.46703	T	0.11	.	10.8188	0.46593	0.0:0.8525:0.0:0.1475	.	3417;3417;3417;3424	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	3417;3424;3417;3424	ENSP00000356224:R3417M;ENSP00000396024:R3424M;ENSP00000265368:R3417M;ENSP00000390975:R3424M	ENSP00000265368:R3417M	R	-	2	0	SYNE1	152725047	1.000000	0.71417	0.940000	0.37924	0.033000	0.12548	2.954000	0.49113	1.315000	0.45114	0.655000	0.94253	AGG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		63	303	1	0	9.40535e-28	1	1.0908e-27	63	303				
PPAP2B	8613	broad.mit.edu	37	1	56977739	56977739	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56977739T>C	ENST00000371250.3	-	5	1270	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	240					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CAGTCCCGTGTAGAAGGCCAT	0.582																																						ENST00000371250.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(718-720)tAc>tGc		phosphatidic acid phosphatase type 2B							88.0	81.0	84.0					1																	56977739		2203	4300	6503	SO:0001583	missense	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56977739T>C	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.719A>G	1.37:g.56977739T>C	ENSP00000360296:p.Tyr240Cys					PPAP2B_ENST00000459962.1_5'UTR	p.Y240C	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN			5	1270	-			240					B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	c.719A>G	CCDS604.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692869	0.88735	.	.	ENSG00000162407	ENST00000371250	T	0.74209	-0.82	6.04	6.04	0.98038	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.169906	0.52532	D	0.000069	D	0.86859	0.6034	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88431	0.3035	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	240	O14495	LPP3_HUMAN	C	240	ENSP00000360296:Y240C	ENSP00000360296:Y240C	Y	-	2	0	PPAP2B	56750327	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	TAC		0.582	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		27	250	0	0	0	1	0	27	250				
LRIG2	9860	broad.mit.edu	37	1	113662141	113662141	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113662141C>T	ENST00000361127.5	+	17	3165	c.2967C>T	c.(2965-2967)agC>agT	p.S989S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	989					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CACAGATGAGCGGTGGTAAGG	0.438																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2965-2967)agC>agT		leucine-rich repeats and immunoglobulin-like domains 2							98.0	94.0	96.0					1																	113662141		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113662141C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2967C>T	1.37:g.113662141C>T						LRIG2_ENST00000492207.1_3'UTR	p.S989S	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	17	3165	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	989					Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.2967C>T	CCDS30808.1																																																																																				0.438	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		26	172	0	0	0	1	0	26	172				
ATP2B1	490	broad.mit.edu	37	12	90049503	90049503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90049503C>T	ENST00000428670.3	-	2	617	c.161G>A	c.(160-162)gGa>gAa	p.G54E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	54					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATAGACATCTCCATAGCTTTC	0.403																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(160-162)gGa>gAa		ATPase, Ca++ transporting, plasma membrane 1							81.0	78.0	79.0					12																	90049503		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90049503C>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.161G>A	12.37:g.90049503C>T	ENSP00000392043:p.Gly54Glu					ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E	p.G54E			P20020	AT2B1_HUMAN			2	617	-			54					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.161G>A	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152498	0.78001	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000551310	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.48	5.48	0.80851	.	0.052038	0.85682	D	0.000000	D	0.87533	0.6201	M	0.89534	3.04	0.80722	D	1	B;P	0.34815	0.046;0.47	B;P	0.46172	0.027;0.506	D	0.86701	0.1929	9	.	.	.	0.5749	19.7147	0.96110	0.0:1.0:0.0:0.0	.	54;54	P20020-3;P20020-2	.;.	E	54	ENSP00000261173:G54E;ENSP00000343599:G54E;ENSP00000352054:G54E;ENSP00000392043:G54E	.	G	-	2	0	ATP2B1	88573634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.577000	0.60922	2.732000	0.93576	0.591000	0.81541	GGA		0.403	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		54	247	0	0	0	1	0	54	247				
ADCY2	108	broad.mit.edu	37	5	7717276	7717276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7717276G>A	ENST00000338316.4	+	12	1718	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.K363K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	543					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATAGAACCAAGTCACAAAAGA	0.264																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1627-1629)aaG>aaA		adenylate cyclase 2 (brain)							83.0	88.0	86.0					5																	7717276		2202	4299	6501	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7717276G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1629G>A	5.37:g.7717276G>A						RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.K363K	p.K543K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			12	1718	+			543					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1629G>A	CCDS3872.2																																																																																				0.264	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		44	277	0	0	0	1	0	44	277				
PLXNA4	91584	broad.mit.edu	37	7	131908351	131908351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131908351G>A	ENST00000359827.3	-	9	2994	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W			Q9HCM2	PLXA4_HUMAN	plexin A4	678	PSI 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGACATGCCGGTATTTACAC	0.592																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2032-2034)Cgg>Tgg		plexin A4							44.0	47.0	46.0					7																	131908351		2099	4251	6350	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131908351G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2032C>T	7.37:g.131908351G>A	ENSP00000352882:p.Arg678Trp					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W	p.R678W			Q9HCM2	PLXA4_HUMAN			9	2994	-			678			PSI 2.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2032C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120518	0.77323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18502	2.21;2.21	5.8	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.55885	-0.8070	10	0.72032	D	0.01	.	14.8525	0.70309	0.0:0.0:0.7376:0.2624	.	678	Q9HCM2	PLXA4_HUMAN	W	678	ENSP00000323194:R678W;ENSP00000352882:R678W	ENSP00000323194:R678W	R	-	1	2	PLXNA4	131558891	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.686000	0.54685	0.765000	0.33221	-0.169000	0.13324	CGG		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		15	88	0	0	0	1	0	15	88				
CYLC1	1538	broad.mit.edu	37	X	83128818	83128818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128818G>A	ENST00000329312.4	+	4	1139	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	368					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						gaaGTACCCAGAGTCTACTGA	0.343																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1102-1104)Gag>Aag		cylicin, basic protein of sperm head cytoskeleton 1							34.0	31.0	32.0					X																	83128818		2189	4291	6480	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128818G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1102G>A	X.37:g.83128818G>A	ENSP00000331556:p.Glu368Lys						p.E368K	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1139	+			368					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1102G>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	6.577	0.474736	0.12521	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.25749	1.78	4.18	2.32	0.28847	.	.	.	.	.	T	0.14356	0.0347	L	0.43923	1.385	0.09310	N	1	P;P	0.46512	0.879;0.764	B;B	0.37144	0.242;0.173	T	0.10200	-1.0640	9	0.07990	T	0.79	.	4.2204	0.10554	0.1255:0.0:0.6479:0.2266	.	368;368	P35663;F5H4V5	CYLC1_HUMAN;.	K	368	ENSP00000331556:E368K	ENSP00000331556:E368K	E	+	1	0	CYLC1	83015474	0.267000	0.24122	0.001000	0.08648	0.566000	0.35808	3.563000	0.53784	0.325000	0.23359	0.556000	0.70494	GAG		0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		6	115	0	0	0	1	0	6	115				
MROH1	727957	broad.mit.edu	37	8	145235357	145235357	+	Missense_Mutation	SNP	G	G	A	rs185394696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145235357G>A	ENST00000528919.1	+	6	614	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	MROH1_ENST00000423230.2_Missense_Mutation_p.V165I|MROH1_ENST00000398656.4_Missense_Mutation_p.V165I|MROH1_ENST00000326134.5_Missense_Mutation_p.V165I|MROH1_ENST00000534366.1_Missense_Mutation_p.V165I	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	165								p.V165I(1)									CCTGCCATCCGTCCTGAGCTC	0.677																																						ENST00000528919.1																			1	Substitution - Missense(1)	p.V165I(1)	endometrium(1)								c.(493-495)Gtc>Atc		maestro heat-like repeat family member 1		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4353		0,1,2176	89.0	94.0	92.0		493,493,493	2.8	1.0	8		92	0,8500		0,0,4250	no	missense,missense,missense	HEATR7A	NM_001099280.1,NM_001099281.1,NM_032450.2	29,29,29	0,1,6426	AA,AG,GG		0.0,0.023,0.0078	benign,benign,benign	165/423,165/423,165/1642	145235357	1,12853	2177	4250	6427	SO:0001583	missense	727957							g.chr8:145235357G>A		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.493G>A	8.37:g.145235357G>A	ENSP00000435565:p.Val165Ile					MROH1_ENST00000398656.4_Missense_Mutation_p.V165I|MROH1_ENST00000326134.5_Missense_Mutation_p.V165I|MROH1_ENST00000534366.1_Missense_Mutation_p.V165I|MROH1_ENST00000423230.2_Missense_Mutation_p.V165I	p.V165I	NM_032450.2	NP_115826.2					6	614	+								C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.493G>A	CCDS47938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.000	-0.206197	0.06180	2.3E-4	0.0	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.62498	3.3;0.02;0.02;0.02;0.02	5.42	2.85	0.33270	Armadillo-type fold (1);	0.157571	0.38164	N	0.001795	T	0.19046	0.0457	N	0.00275	-1.725	0.80722	D	1	B;B;B;B;B	0.22746	0.001;0.0;0.0;0.004;0.074	B;B;B;B;B	0.15484	0.003;0.0;0.0;0.012;0.013	T	0.35500	-0.9786	10	0.02654	T	1	.	8.4312	0.32759	0.8335:0.0:0.1665:0.0	.	165;165;165;165;165	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	I	165;165;165;165;165;97	ENSP00000388174:V165I;ENSP00000381649:V165I;ENSP00000436636:V165I;ENSP00000435565:V165I;ENSP00000321737:V165I	ENSP00000321737:V165I	V	+	1	0	HEATR7A	145307345	0.997000	0.39634	0.998000	0.56505	0.282000	0.26991	1.985000	0.40668	0.434000	0.26340	-0.459000	0.05422	GTC		0.677	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		65	305	0	0	0	1	0	65	305				
PTPRC	5788	broad.mit.edu	37	1	198718653	198718653	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198718653A>C	ENST00000367376.2	+	28	3212	c.3041A>C	c.(3040-3042)aAa>aCa	p.K1014T	PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T|PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1014	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACCAAGCAAATACATCAAT	0.348																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3040-3042)aAa>aCa		protein tyrosine phosphatase, receptor type, C							95.0	89.0	91.0					1																	198718653		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198718653A>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3041A>C	1.37:g.198718653A>C	ENSP00000356346:p.Lys1014Thr					PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T|PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T	p.K1014T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			28	3212	+			1014			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3041A>C		.	.	.	.	.	.	.	.	.	.	A	18.28	3.588355	0.66105	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13307	2.6	5.82	2.25	0.28309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.125027	0.35936	N	0.002887	T	0.17874	0.0429	N	0.17901	0.54	0.44295	D	0.997169	D;D;D	0.57899	0.981;0.981;0.961	P;P;P	0.62740	0.906;0.906;0.875	T	0.01212	-1.1417	10	0.62326	D	0.03	.	9.6267	0.39754	0.7274:0.0:0.2726:0.0	.	855;966;1014	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	T	1016;966;1014;853	ENSP00000193532:K966T	ENSP00000306782:K853T	K	+	2	0	PTPRC	196985276	0.958000	0.32768	0.969000	0.41365	0.763000	0.43281	0.284000	0.18864	0.131000	0.18576	0.528000	0.53228	AAA		0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				51	203	0	0	0	1	0	51	203				
FRK	2444	broad.mit.edu	37	6	116381319	116381319	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116381319A>G	ENST00000606080.1	-	1	602	c.156T>C	c.(154-156)gaT>gaC	p.D52D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	52	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GAGCCTGGTAATCAAACAAAG	0.532																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(154-156)gaT>gaC		fyn-related kinase							102.0	104.0	103.0					6																	116381319		2203	4300	6503	SO:0001819	synonymous_variant	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116381319A>G	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.156T>C	6.37:g.116381319A>G							p.D52D	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	1	602	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	52			SH3.		B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	c.156T>C	CCDS5103.1																																																																																				0.532	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		91	463	0	0	0	1	0	91	463				
C1QTNF9B	387911	broad.mit.edu	37	13	24471132	24471132	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471132G>T	ENST00000382140.2	-	0	54				C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382137.3_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382145.1_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382057.3_De_novo_Start_OutOfFrame			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B							collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCATGGTTCAGATGACAGACT	0.527																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6								C1q and tumor necrosis factor related protein 9B							101.0	93.0	96.0					13																	24471132		2203	4300	6503			387911					collagen		g.chr13:24471132G>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.-7C>A	13.37:g.24471132G>T						C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382140.2_De_novo_Start_OutOfFrame|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382145.1_De_novo_Start_OutOfFrame		NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			0	62	-								A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Translation_Start_Site	SNP	ENST00000382140.2	37		CCDS31947.1																																																																																				0.527	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		13	323	1	0	6.31663e-08	1	6.57865e-08	13	323				
SSPO	23145	broad.mit.edu	37	7	149520498	149520498	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149520498T>G	ENST00000378016.2	+	0	13316							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCTGGGCTCTGTGCCACA	0.662																																						ENST00000378016.2																			0													SCO-spondin							46.0	54.0	52.0					7																	149520498		2046	4204	6250			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149520498T>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149520498T>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	13316	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				73	338	0	0	0	1	0	73	338				
TLR6	10333	broad.mit.edu	37	4	38829804	38829804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38829804C>A	ENST00000381950.1	-	1	1356	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	TLR6_ENST00000436693.2_Missense_Mutation_p.V431L			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	431					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACACCACTATACTCTCA	0.373																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1291-1293)Gtg>Ttg		toll-like receptor 6							113.0	120.0	118.0					4																	38829804		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829804C>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1291G>T	4.37:g.38829804C>A	ENSP00000371376:p.Val431Leu					TLR6_ENST00000381950.1_Missense_Mutation_p.V431L	p.V431L	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	1410	-			431					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1291G>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	1.183	-0.637613	0.03557	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.52295	0.67;0.67	5.14	-0.74	0.11115	.	1.929330	0.02338	N	0.074593	T	0.27933	0.0688	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05954	-1.0854	10	0.11794	T	0.64	.	2.4207	0.04447	0.2402:0.4105:0.1997:0.1497	.	431	Q9Y2C9	TLR6_HUMAN	L	431	ENSP00000389600:V431L;ENSP00000371376:V431L	ENSP00000371376:V431L	V	-	1	0	TLR6	38506199	0.000000	0.05858	0.850000	0.33497	0.978000	0.69477	-0.572000	0.05881	-0.071000	0.12886	0.484000	0.47621	GTG		0.373	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			131	572	1	0	4.21061e-56	1	5.26708e-56	131	572				
PRKDC	5591	broad.mit.edu	37	8	48701608	48701608	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48701608A>G	ENST00000314191.2	-	77	10814	c.10758T>C	c.(10756-10758)gaT>gaC	p.D3586D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.D3586D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3587					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CATTGCTCCAATCCTGTCAGG	0.343								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(10756-10758)gaT>gaC	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							67.0	61.0	63.0					8																	48701608		1801	4067	5868	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48701608A>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10758T>C	8.37:g.48701608A>G						PRKDC_ENST00000338368.3_Silent_p.D3586D|PRKDC_ENST00000523565.1_5'UTR	p.D3586D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			77	10814	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3587					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.10758T>C																																																																																					0.343	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		42	185	0	0	0	1	0	42	185				
PRSS16	10279	broad.mit.edu	37	6	27219637	27219637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219637G>T	ENST00000230582.3	+	8	841	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	276					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGGCCCCTGGGCCGCGCTGA	0.701																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(826-828)Ggc>Tgc		protease, serine, 16 (thymus)							16.0	21.0	20.0					6																	27219637		2184	4284	6468	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27219637G>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.826G>T	6.37:g.27219637G>T	ENSP00000230582:p.Gly276Cys					PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	p.G276C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			8	841	+			276					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.826G>T	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414040	0.25465	.	.	ENSG00000112812	ENST00000230582	T	0.14640	2.49	3.72	0.425	0.16473	.	0.632610	0.15930	N	0.237713	T	0.04724	0.0128	L	0.39898	1.24	0.09310	N	1	P	0.43542	0.81	P	0.46362	0.514	T	0.25882	-1.0119	10	0.56958	D	0.05	0.5666	2.8425	0.05534	0.284:0.0:0.5066:0.2094	.	276	Q9NQE7	TSSP_HUMAN	C	276	ENSP00000230582:G276C	ENSP00000230582:G276C	G	+	1	0	PRSS16	27327616	0.061000	0.20836	0.006000	0.13384	0.040000	0.13550	0.408000	0.21065	-0.048000	0.13401	-0.244000	0.11960	GGC		0.701	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			51	218	1	0	8.72198e-27	1	1.00714e-26	51	218				
CSPG4	1464	broad.mit.edu	37	15	75981045	75981045	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981045C>T	ENST00000308508.5	-	3	2453	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	787	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCCAGCCGCAGCATCCACA	0.642																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2359-2361)ctG>ctA		chondroitin sulfate proteoglycan 4							36.0	35.0	35.0					15																	75981045		2194	4287	6481	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981045C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2361G>A	15.37:g.75981045C>T							p.L787L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2453	-			787			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2361G>A	CCDS10284.1																																																																																				0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		8	280	0	0	0	1	0	8	280				
CD1E	913	broad.mit.edu	37	1	158325793	158325793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158325793T>C	ENST00000368167.3	+	4	1041	c.802T>C	c.(802-804)Tat>Cat	p.Y268H	CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H|CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H|CD1E_ENST00000444681.2_Missense_Mutation_p.Y169H	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	268	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CGAGACATGGTATCTCCGAGC	0.602																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(505-507)Tat>Cat		CD1e molecule							108.0	107.0	107.0					1																	158325793		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325793T>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.802T>C	1.37:g.158325793T>C	ENSP00000357149:p.Tyr268His					CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000368167.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H	p.Y169H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			3	798	+	all_hematologic(112;0.0378)		268					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.505T>C	CCDS41417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.43|13.43	2.235311|2.235311	0.39498|0.39498	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000368164;ENST00000368161;ENST00000368162|ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	.|T;T;T;T;T;T;T;T	.|0.14144	.|2.53;2.53;2.53;2.53;4.18;2.53;2.53;4.18	4.38|4.38	3.23|3.23	0.37069|0.37069	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|0.371926	.|0.19941	.|N	.|0.102654	.|T	.|0.15609	.|0.0376	M|M	0.72894|0.72894	2.215|2.215	0.25800|0.25800	N|N	0.984516|0.984516	.|D;P;D;P;P;P;P;D;P;D;P	.|0.58268	.|0.958;0.953;0.982;0.951;0.659;0.549;0.896;0.981;0.953;0.97;0.871	.|P;P;P;P;D;P;P;P;D;D;P	.|0.65987	.|0.895;0.872;0.863;0.863;0.94;0.868;0.774;0.864;0.926;0.931;0.826	.|T	.|0.06445	.|-1.0826	.|10	.|0.31617	.|T	.|0.26	.|-3.3614	7.8875|7.8875	0.29659|0.29659	0.0:0.0:0.21:0.79|0.0:0.0:0.21:0.79	.|.	.|79;169;266;268;169;178;79;268;268;79;178	.|B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.|.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	.|H	-1|266;169;268;79;178;79;268;178	.|ENSP00000401957:Y266H;ENSP00000402906:Y169H;ENSP00000357149:Y268H;ENSP00000416228:Y79H;ENSP00000357147:Y178H;ENSP00000357148:Y79H;ENSP00000357142:Y268H;ENSP00000357138:Y178H	.|ENSP00000357138:Y178H	.|Y	+|+	.|1	.|0	CD1E|CD1E	156592417|156592417	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.697000|0.697000	0.40408|0.40408	2.127000|2.127000	0.42035|0.42035	0.706000|0.706000	0.31912|0.31912	0.460000|0.460000	0.39030|0.39030	.|TAT		0.602	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		41	600	0	0	0	1	0	41	600				
GBE1	2632	broad.mit.edu	37	3	81810601	81810601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810601G>A	ENST00000429644.2	-	1	711	c.68C>T	c.(67-69)gCt>gTt	p.A23V	RP11-142L1.1_ENST00000497946.1_lincRNA	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	23					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GGGCACGTCAGCCAGGGCGGC	0.682									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)gCt>gTt		glucan (1,4-alpha-), branching enzyme 1							34.0	41.0	39.0					3																	81810601		2014	4163	6177	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81810601G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.68C>T	3.37:g.81810601G>A	ENSP00000410833:p.Ala23Val						p.A23V	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	1	711	-		Lung NSC(201;0.0117)	23					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.68C>T	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278638	0.23307	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.17370	2.28	3.42	3.42	0.39159	.	0.197648	0.34002	U	0.004349	T	0.13457	0.0326	L	0.40543	1.245	0.43919	D	0.996564	B	0.02656	0.0	B	0.04013	0.001	T	0.06679	-1.0813	10	0.27785	T	0.31	-2.5332	10.5247	0.44941	0.0:0.0:1.0:0.0	.	23	Q04446	GLGB_HUMAN	V	23;74	ENSP00000410833:A23V	ENSP00000264326:A74V	A	-	2	0	GBE1	81893291	0.069000	0.21087	0.179000	0.23059	0.093000	0.18481	1.010000	0.29898	1.906000	0.55180	0.462000	0.41574	GCT		0.682	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			52	217	0	0	0	1	0	52	217				
NDFIP1	80762	broad.mit.edu	37	5	141524156	141524156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141524156G>T	ENST00000253814.4	+	7	1053	c.583G>T	c.(583-585)Gga>Tga	p.G195*		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	195					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCTCAGAGGATTTATCAA	0.343																																						ENST00000253814.4																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(583-585)Gga>Tga		Nedd4 family interacting protein 1							89.0	104.0	99.0					5																	141524156		2194	4295	6489	SO:0001587	stop_gained	80762				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	g.chr5:141524156G>T	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.583G>T	5.37:g.141524156G>T	ENSP00000253814:p.Gly195*						p.G195*	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1053	+		all_hematologic(541;0.0999)	195					B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Nonsense_Mutation	SNP	ENST00000253814.4	37	c.583G>T	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	G	42	9.550999	0.99202	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1228	19.5914	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000253814:G195X	G	+	1	0	NDFIP1	141504340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.708000	0.92522	0.563000	0.77884	GGA		0.343	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		134	654	1	0	1.73106e-74	1	2.20561e-74	134	654				
DMPK	1760	broad.mit.edu	37	19	46281440	46281440	+	Missense_Mutation	SNP	C	C	A	rs369279468		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281440C>A	ENST00000291270.4	-	6	745	c.620G>T	c.(619-621)gGc>gTc	p.G207V	DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000600757.1_Missense_Mutation_p.G217V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGGATGTGGCCACAGCGGTC	0.607																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(649-651)gGc>gTc		dystrophia myotonica-protein kinase							71.0	51.0	58.0					19																	46281440		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281440C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.620G>T	19.37:g.46281440C>A	ENSP00000291270:p.Gly207Val					DMPK_ENST00000291270.4_Missense_Mutation_p.G207V|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V	p.G217V			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	5	1337	-		Ovarian(192;0.0308)|all_neural(266;0.112)	217			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.650G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.931895	0.92389	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.53	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42294	D	0.000722	T	0.75803	0.3899	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.83025	-0.0165	10	0.87932	D	0	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	207;207;233;207;207;207;254;217	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	V	207;233;207;207;207;217;217;207	ENSP00000401753:G207V;ENSP00000291270:G207V;ENSP00000413417:G207V;ENSP00000345997:G217V;ENSP00000346168:G207V	ENSP00000291270:G207V	G	-	2	0	DMPK	50973280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.564000	0.82326	2.330000	0.79161	0.650000	0.86243	GGC		0.607	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		11	98	1	0	3.86212e-05	1	3.93988e-05	11	98				
CASP4	837	broad.mit.edu	37	11	104820346	104820346	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104820346G>T	ENST00000444739.2	-	5	1615	c.705C>A	c.(703-705)ttC>ttA	p.F235L	CASP4_ENST00000393150.3_Missense_Mutation_p.F179L|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	235					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.F235F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGAATATCTGGAAGATGGTGT	0.483																																						ENST00000444739.2																			1	Substitution - coding silent(1)	p.F235F(1)	lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(703-705)ttC>ttA		caspase 4, apoptosis-related cysteine peptidase							280.0	231.0	248.0					11																	104820346		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104820346G>T	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.705C>A	11.37:g.104820346G>T	ENSP00000388566:p.Phe235Leu					CASP4_ENST00000393150.3_Missense_Mutation_p.F179L	p.F235L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	5	1615	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	235					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.705C>A	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013534	0.35511	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20738	2.05;2.05	4.57	0.471	0.16752	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.171913	0.52532	D	0.000069	T	0.25082	0.0609	M	0.73319	2.225	0.20821	N	0.999842	P;P	0.40578	0.722;0.593	B;B	0.44044	0.439;0.233	T	0.10268	-1.0637	10	0.62326	D	0.03	.	7.3478	0.26674	0.5099:0.0:0.4901:0.0	.	235;235	B4E2D2;P49662	.;CASP4_HUMAN	L	235;179;188	ENSP00000388566:F235L;ENSP00000376857:F179L	ENSP00000347741:F188L	F	-	3	2	CASP4	104325556	0.064000	0.20934	0.380000	0.26093	0.105000	0.19272	0.351000	0.20096	0.169000	0.19679	-0.142000	0.14014	TTC		0.483	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		104	484	1	0	4.95557e-46	1	6.08382e-46	104	484				
KIAA1210	57481	broad.mit.edu	37	X	118239009	118239009	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118239009T>C	ENST00000402510.2	-	7	1013	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	338										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GATTCTTAGGTGACTCATCAT	0.463																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(1012-1014)tcA>tcG		KIAA1210							150.0	144.0	146.0					X																	118239009		1908	4127	6035	SO:0001819	synonymous_variant	57481							g.chrX:118239009T>C	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1014A>G	X.37:g.118239009T>C							p.S338S	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			7	1013	-			338					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.1014A>G	CCDS48156.1																																																																																				0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		24	742	0	0	0	1	0	24	742				
SERTAD2	9792	broad.mit.edu	37	2	64863673	64863673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863673C>T	ENST00000313349.3	-	2	630	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	111					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGACGGGGACGCCAGGTGGC	0.692																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(331-333)gcG>gcA		SERTA domain containing 2							33.0	36.0	35.0					2																	64863673		2203	4299	6502	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863673C>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.333G>A	2.37:g.64863673C>T						SERTAD2_ENST00000476805.1_5'UTR	p.A111A	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	630	-			111					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.333G>A	CCDS33210.1																																																																																				0.692	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		81	202	0	0	0	1	0	81	202				
BCL11B	64919	broad.mit.edu	37	14	99641019	99641019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99641019C>T	ENST00000357195.3	-	4	2163	c.2154G>A	c.(2152-2154)tcG>tcA	p.S718S	BCL11B_ENST00000443726.2_Silent_p.S524S|BCL11B_ENST00000345514.2_Silent_p.S647S	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	718					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGAAGTGCCGCGACGCCGCGT	0.672			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1939-1941)tcG>tcA		B-cell CLL/lymphoma 11B (zinc finger protein)							22.0	20.0	21.0					14																	99641019		2196	4293	6489	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641019C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2154G>A	14.37:g.99641019C>T						BCL11B_ENST00000443726.2_Silent_p.S524S|BCL11B_ENST00000357195.3_Silent_p.S718S	p.S647S	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2207	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	718			Gly-rich.		Q9H162	Silent	SNP	ENST00000357195.3	37	c.1941G>A	CCDS9950.1																																																																																				0.672	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		29	100	0	0	0	1	0	29	100				
GCC1	79571	broad.mit.edu	37	7	127223015	127223015	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127223015C>A	ENST00000321407.2	-	2	1805	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	461					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTCCAGGTCACAGAGCTTC	0.527																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1381-1383)Gac>Tac		GRIP and coiled-coil domain containing 1							99.0	102.0	101.0					7																	127223015		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223015C>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1381G>T	7.37:g.127223015C>A	ENSP00000318821:p.Asp461Tyr					GCC1_ENST00000497650.1_5'UTR	p.D461Y	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	1805	-			461					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1381G>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582210	0.46006	.	.	ENSG00000179562	ENST00000321407	T	0.12672	2.66	5.12	2.34	0.29019	.	0.224065	0.47852	D	0.000209	T	0.10637	0.0260	L	0.29908	0.895	0.40906	D	0.984191	P	0.44195	0.828	B	0.42653	0.394	T	0.09662	-1.0664	10	0.59425	D	0.04	-14.9262	7.7853	0.29089	0.0:0.735:0.0:0.265	.	461	Q96CN9	GCC1_HUMAN	Y	461	ENSP00000318821:D461Y	ENSP00000318821:D461Y	D	-	1	0	GCC1	127010251	0.233000	0.23772	0.980000	0.43619	0.992000	0.81027	0.619000	0.24388	0.278000	0.22164	0.655000	0.94253	GAC		0.527	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		122	528	1	0	6.92432e-61	1	8.71362e-61	122	528				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		8	228	0	0	0	1	0	8	228				
CCDC144A	9720	broad.mit.edu	37	17	16612399	16612399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16612399G>A	ENST00000360524.8	+	5	1104	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000443444.2_Missense_Mutation_p.G343D|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G342D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G343D|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G343D	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	343																	AACATACCTGGTTGTGAGGAA	0.383																																						ENST00000443444.2																			0											c.(1027-1029)gGt>gAt		coiled-coil domain containing 144A							34.0	33.0	33.0					17																	16612399		1804	4040	5844	SO:0001583	missense	9720							g.chr17:16612399G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1028G>A	17.37:g.16612399G>A	ENSP00000353717:p.Gly343Asp					RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G343D|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G343D|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G343D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G342D	p.G343D			A2RUR9	C144A_HUMAN			5	1168	+			343					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1028G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	2.033	-0.422021	0.04734	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	1.26	-0.0891	0.13670	.	.	.	.	.	T	0.08891	0.0220	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	B	0.43728	0.429	T	0.22836	-1.0205	8	.	.	.	.	4.2586	0.10730	0.7666:0.0:0.2334:0.0	.	343	A2RUR9	C144A_HUMAN	D	342;343;343;343;343;343	ENSP00000344740:G342D;ENSP00000382215:G343D;ENSP00000439262:G343D;ENSP00000440655:G343D;ENSP00000353717:G343D;ENSP00000353685:G343D	.	G	+	2	0	CCDC144A	16553124	0.011000	0.17503	0.285000	0.24819	0.113000	0.19764	0.692000	0.25482	-0.236000	0.09753	0.175000	0.17021	GGT		0.383	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			63	309	0	0	0	1	0	63	309				
CCS	9973	broad.mit.edu	37	11	66366974	66366974	+	Missense_Mutation	SNP	G	G	A	rs149989199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66366974G>A	ENST00000533244.1	+	4	736	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	CCS_ENST00000310190.4_Missense_Mutation_p.V80M	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	99	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCTGGCACCGTGCAGGGGGT	0.632													G|||	4	0.000798722	0.0023	0.0	5008	,	,		16974	0.001		0.0	False		,,,				2504	0.0					ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(295-297)Gtg>Atg		copper chaperone for superoxide dismutase		G	MET/VAL	3,4397	6.2+/-15.9	0,3,2197	25.0	26.0	25.0		295	4.3	0.9	11	dbSNP_134	25	0,8590		0,0,4295	yes	missense	CCS	NM_005125.1	21	0,3,6492	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	99/275	66366974	3,12987	2200	4295	6495	SO:0001583	missense	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366974G>A	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.295G>A	11.37:g.66366974G>A	ENSP00000436318:p.Val99Met					CCS_ENST00000310190.4_Missense_Mutation_p.V80M	p.V99M	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	736	+			99			Superoxide dismutase-like.		Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	37	c.295G>A	CCDS8146.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.0	4.077420	0.76528	6.82E-4	0.0	ENSG00000173992	ENST00000533244;ENST00000310190	T;T	0.57752	0.38;0.38	5.23	4.31	0.51392	Superoxide dismutase, copper/zinc binding domain (3);	0.189495	0.46442	D	0.000286	T	0.78175	0.4242	H	0.97103	3.94	0.39517	D	0.968446	D	0.89917	1.0	D	0.67231	0.95	T	0.83326	-0.0015	10	0.87932	D	0	.	8.7598	0.34667	0.103:0.0:0.897:0.0	.	99	O14618	CCS_HUMAN	M	99;80	ENSP00000436318:V99M;ENSP00000307870:V80M	ENSP00000307870:V80M	V	+	1	0	CCS	66123550	1.000000	0.71417	0.896000	0.35187	0.900000	0.52787	4.047000	0.57383	1.419000	0.47118	0.655000	0.94253	GTG		0.632	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		36	177	0	0	0	1	0	36	177				
ZCCHC4	29063	broad.mit.edu	37	4	25370758	25370758	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25370758A>G	ENST00000302874.4	+	13	1538	c.1514A>G	c.(1513-1515)gAa>gGa	p.E505G		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	505							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAAGGAGGGAAAGAGCCCAT	0.388																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1513-1515)gAa>gGa		zinc finger, CCHC domain containing 4							106.0	98.0	101.0					4																	25370758		1856	4120	5976	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25370758A>G	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1514A>G	4.37:g.25370758A>G	ENSP00000303468:p.Glu505Gly						p.E505G	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			13	1538	+		Breast(46;0.0503)	505					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.1514A>G	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593813	0.46214	.	.	ENSG00000168228	ENST00000302874	T	0.32272	1.46	5.81	3.39	0.38822	.	1.110990	0.06650	N	0.762600	T	0.23330	0.0564	N	0.22421	0.69	0.23144	N	0.998221	B	0.06786	0.001	B	0.04013	0.001	T	0.21827	-1.0234	10	0.59425	D	0.04	3.3457	8.192	0.31374	0.8395:0.0:0.1605:0.0	.	505	Q9H5U6	ZCHC4_HUMAN	G	505	ENSP00000303468:E505G	ENSP00000303468:E505G	E	+	2	0	ZCCHC4	24979856	0.998000	0.40836	0.963000	0.40424	0.930000	0.56654	2.267000	0.43329	1.043000	0.40175	0.482000	0.46254	GAA		0.388	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			86	302	0	0	0	1	0	86	302				
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	C	T	rs370756412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85445199C>T	ENST00000528231.1	-	6	1447	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SYTL2_ENST00000316356.4_Silent_p.S391S|SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398													C|||	5	0.000998403	0.0	0.0	5008	,	,		19078	0.0		0.0	False		,,,				2504	0.0051					ENST00000316356.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1171-1173)tcG>tcA		synaptotagmin-like 2							145.0	140.0	142.0					11																	85445199		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445199C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1170G>A	11.37:g.85445199C>T						SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S	p.S391S			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	7	1737	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	390					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.1173G>A	CCDS53688.1																																																																																				0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		112	452	0	0	0	1	0	112	452				
MAML1	9794	broad.mit.edu	37	5	179193167	179193167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193167G>A	ENST00000292599.3	+	2	1419	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGTCAGGGCCCAGGAGG	0.642																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1156-1158)Ggc>Agc		mastermind-like 1 (Drosophila)							41.0	45.0	43.0					5																	179193167		2203	4299	6502	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193167G>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1156G>A	5.37:g.179193167G>A	ENSP00000292599:p.Gly386Ser					MAML1_ENST00000503050.1_3'UTR	p.G386S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1419	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	386						Missense_Mutation	SNP	ENST00000292599.3	37	c.1156G>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571803	0.45798	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.27402	1.67	4.88	4.01	0.46588	.	0.078647	0.53938	D	0.000052	T	0.41880	0.1178	M	0.63843	1.955	0.37548	D	0.918591	D;D	0.76494	0.997;0.999	D;D	0.67103	0.949;0.928	T	0.49925	-0.8887	10	0.09084	T	0.74	-19.2223	6.9821	0.24708	0.1549:0.0:0.7039:0.1412	.	423;386	Q59GH4;Q92585	.;MAML1_HUMAN	S	386;423	ENSP00000292599:G386S	ENSP00000292599:G386S	G	+	1	0	MAML1	179125773	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.309000	0.59135	1.047000	0.40274	0.305000	0.20034	GGC		0.642	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		58	462	0	0	0	1	0	58	462				
APOA1BP	128240	broad.mit.edu	37	1	156563698	156563698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156563698C>T	ENST00000368235.3	+	6	732	c.689C>T	c.(688-690)gCt>gTt	p.A230V	APOA1BP_ENST00000368234.3_Silent_p.C211C|GPATCH4_ENST00000497287.1_5'Flank	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGAAATGCTGGAGGGATC	0.532																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(688-690)gCt>gTt		apolipoprotein A-I binding protein							119.0	120.0	120.0					1																	156563698		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156563698C>T	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.689C>T	1.37:g.156563698C>T	ENSP00000357218:p.Ala230Val					APOA1BP_ENST00000368234.3_Silent_p.C211C	p.A230V	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			6	732	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		230			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.689C>T	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711231	0.48517	.	.	ENSG00000163382	ENST00000446584;ENST00000368235	T	0.37411	1.2	4.86	4.86	0.63082	YjeF-related protein, N-terminal (5);	0.473392	0.23176	N	0.051061	T	0.12135	0.0295	N	0.12663	0.25	0.80722	D	1	B	0.11235	0.004	B	0.23018	0.043	T	0.06881	-1.0802	10	0.23302	T	0.38	.	16.5957	0.84795	0.0:1.0:0.0:0.0	.	230	Q8NCW5	AIBP_HUMAN	V	248;230	ENSP00000357218:A230V	ENSP00000357218:A230V	A	+	2	0	APOA1BP	154830322	0.432000	0.25554	0.553000	0.28255	0.656000	0.38851	4.888000	0.63164	2.223000	0.72356	0.563000	0.77884	GCT		0.532	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		195	677	0	0	0	1	0	195	677				
DKKL1	27120	broad.mit.edu	37	19	49878129	49878129	+	Silent	SNP	C	C	T	rs375202437		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49878129C>T	ENST00000221498.2	+	5	978	c.573C>T	c.(571-573)agC>agT	p.S191S	DKKL1_ENST00000594268.1_Silent_p.S49S|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	191					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		ACTGGCTCAGCGAGAAGCGAC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16007	0.0		0.0	False		,,,				2504	0.001					ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(571-573)agC>agT		dickkopf-like 1							27.0	30.0	29.0					19																	49878129		2203	4300	6503	SO:0001819	synonymous_variant	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49878129C>T	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.573C>T	19.37:g.49878129C>T						DKKL1_ENST00000594268.1_Silent_p.S49S|AC010524.2_ENST00000599433.1_RNA	p.S191S	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	5	978	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	191						Silent	SNP	ENST00000221498.2	37	c.573C>T	CCDS12762.1																																																																																				0.657	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		35	189	0	0	0	1	0	35	189				
LCE3A	353142	broad.mit.edu	37	1	152595443	152595443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152595443C>T	ENST00000335674.1	-	1	136	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	46					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCAGCAGCTGCGCTCGGA	0.657																																						ENST00000335674.1																			0				endometrium(1)|lung(5)	6						c.(136-138)aGc>aAc		late cornified envelope 3A							48.0	51.0	50.0					1																	152595443		2203	4300	6503	SO:0001583	missense	353142				keratinization			g.chr1:152595443C>T		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.137G>A	1.37:g.152595443C>T	ENSP00000335006:p.Ser46Asn						p.S46N	NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	136	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		46						Missense_Mutation	SNP	ENST00000335674.1	37	c.137G>A	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022189	0.07634	.	.	ENSG00000185962	ENST00000335674	T	0.04015	3.73	3.61	3.61	0.41365	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	B	0.25609	0.13	B	0.24269	0.052	T	0.40831	-0.9542	8	0.62326	D	0.03	.	10.9218	0.47169	0.0:1.0:0.0:0.0	.	46	Q5TA76	LCE3A_HUMAN	N	46	ENSP00000335006:S46N	ENSP00000335006:S46N	S	-	2	0	LCE3A	150862067	0.724000	0.28038	0.059000	0.19551	0.012000	0.07955	1.084000	0.30828	2.002000	0.58637	0.650000	0.86243	AGC		0.657	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		35	497	0	0	0	1	0	35	497				
ARMC2	84071	broad.mit.edu	37	6	109274296	109274296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109274296C>T	ENST00000392644.4	+	13	1825	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	553										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAACCAGGCTCGTGAACAATT	0.463																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(1657-1659)Cgt>Tgt		armadillo repeat containing 2							49.0	44.0	46.0					6																	109274296		2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109274296C>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1657C>T	6.37:g.109274296C>T	ENSP00000376417:p.Arg553Cys					ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	p.R553C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	13	1825	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	553					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.1657C>T	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801871	0.70682	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.50813	0.73;0.73	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.67933	-0.5542	10	0.72032	D	0.01	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	553	Q8NEN0	ARMC2_HUMAN	C	388;553	ENSP00000357968:R388C;ENSP00000376417:R553C	ENSP00000357968:R388C	R	+	1	0	ARMC2	109380989	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	5.047000	0.64232	2.756000	0.94617	0.655000	0.94253	CGT		0.463	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		25	103	0	0	0	1	0	25	103				
BOC	91653	broad.mit.edu	37	3	112993336	112993336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112993336G>A	ENST00000495514.1	+	9	2053	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000355385.3_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	450					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCGCTCCCCAGACCCCCAACG	0.667																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1348-1350)aGa>aAa		BOC cell adhesion associated, oncogene regulated							37.0	38.0	38.0					3																	112993336		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993336G>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1349G>A	3.37:g.112993336G>A	ENSP00000418663:p.Arg450Lys					BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.R450K	p.R450K			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	2053	+			450					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1349G>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	2.811	-0.246972	0.05867	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57752	0.38;0.38;0.38	5.08	1.1	0.20463	.	0.391327	0.25747	N	0.028573	T	0.25938	0.0632	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	8.127	0.31005	0.519:0.0:0.481:0.0	.	450;450	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	450	ENSP00000418663:R450K;ENSP00000273395:R450K;ENSP00000347546:R450K	ENSP00000273395:R450K	R	+	2	0	BOC	114476026	0.914000	0.31030	0.000000	0.03702	0.014000	0.08584	0.500000	0.22562	0.132000	0.18615	0.563000	0.77884	AGA		0.667	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		58	287	0	0	0	1	0	58	287				
BMPR1A	657	broad.mit.edu	37	10	88635777	88635777	+	Start_Codon_SNP	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88635777T>C	ENST00000372037.3	+	3	539	c.2T>C	c.(1-3)aTg>aCg	p.M1T	BMPR1A_ENST00000480152.1_3'UTR	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	1					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AATTGAACAATGCCTCAGCTA	0.328			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(1-3)aTg>aCg		bone morphogenetic protein receptor, type IA							195.0	194.0	194.0					10																	88635777		2203	4300	6503	SO:0001582	initiator_codon_variant	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88635777T>C	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.2T>C	10.37:g.88635777T>C	ENSP00000361107:p.Met1Thr					BMPR1A_ENST00000480152.1_3'UTR	p.M1T	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			3	539	+			1					A8K6U9|Q8NEN8	Translation_Start_Site	SNP	ENST00000372037.3	37	c.2T>C	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778498	0.31502	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.82619	-1.63	5.3	5.3	0.74995	.	0.047717	0.85682	D	0.000000	T	0.78836	0.4346	.	.	.	0.80722	D	1	B	0.18166	0.026	B	0.13407	0.009	T	0.76631	-0.2888	9	0.87932	D	0	.	13.7802	0.63079	0.0:0.0:0.0:1.0	.	1	P36894	BMR1A_HUMAN	T	1	ENSP00000361107:M1T	ENSP00000224764:M1T	M	+	2	0	BMPR1A	88625757	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.551000	0.60740	2.128000	0.65567	0.455000	0.32223	ATG		0.328	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	Missense_Mutation	51	264	0	0	0	1	0	51	264				
TARS	6897	broad.mit.edu	37	5	33461024	33461024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33461024G>A	ENST00000265112.3	+	12	1579	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	TARS_ENST00000502553.1_Missense_Mutation_p.R423Q|TARS_ENST00000455217.2_Missense_Mutation_p.R456Q|TARS_ENST00000541634.1_Missense_Mutation_p.R319Q|TARS_ENST00000414361.2_Missense_Mutation_p.R302Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	423					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTTGATCATCGGCCAAGGTCC	0.463																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1267-1269)cGg>cAg		threonyl-tRNA synthetase	L-Threonine(DB00156)						71.0	74.0	73.0					5																	33461024		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461024G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1268G>A	5.37:g.33461024G>A	ENSP00000265112:p.Arg423Gln					TARS_ENST00000502553.1_Missense_Mutation_p.R423Q|TARS_ENST00000455217.2_Missense_Mutation_p.R456Q|TARS_ENST00000414361.2_Missense_Mutation_p.R302Q|TARS_ENST00000541634.1_Missense_Mutation_p.R319Q	p.R423Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			12	1579	+			423					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1268G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372127	0.95923	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	L	0.59967	1.855	0.80722	D	1	D;D;D;D	0.89917	0.983;1.0;0.999;1.0	B;D;D;D	0.75484	0.427;0.986;0.959;0.986	T	0.80476	-0.1366	10	0.87932	D	0	-7.802	20.8794	0.99867	0.0:0.0:1.0:0.0	.	302;456;319;423	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	Q	423;423;319;456;302	ENSP00000424387:R423Q;ENSP00000265112:R423Q;ENSP00000438469:R319Q;ENSP00000387710:R456Q;ENSP00000394291:R302Q	ENSP00000265112:R423Q	R	+	2	0	TARS	33496781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.820000	0.99359	2.941000	0.99782	0.655000	0.94253	CGG		0.463	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		68	271	0	0	0	1	0	68	271				
ZNF263	10127	broad.mit.edu	37	16	3333885	3333885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3333885G>A	ENST00000219069.5	+	1	943	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T|ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	23					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGAGGACTGCGCCTGGAGCCA	0.677																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(67-69)Gcc>Acc		zinc finger protein 263							34.0	40.0	38.0					16																	3333885		2197	4299	6496	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3333885G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.67G>A	16.37:g.3333885G>A	ENSP00000219069:p.Ala23Thr					ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T	p.A23T	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			1	943	+			23					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.67G>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096876	0.08681	.	.	ENSG00000006194	ENST00000219069	T	0.04809	3.55	5.06	3.08	0.35506	.	0.623424	0.15188	N	0.275713	T	0.02455	0.0075	N	0.14661	0.345	0.29067	N	0.883524	B;B	0.13594	0.008;0.001	B;B	0.08055	0.003;0.001	T	0.40942	-0.9536	10	0.02654	T	1	.	7.4218	0.27075	0.1935:0.0:0.8065:0.0	.	23;23	O14978;D3DUC1	ZN263_HUMAN;.	T	23	ENSP00000219069:A23T	ENSP00000219069:A23T	A	+	1	0	ZNF263	3273886	0.021000	0.18746	0.999000	0.59377	0.980000	0.70556	0.319000	0.19522	1.468000	0.48064	0.655000	0.94253	GCC		0.677	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			32	271	0	0	0	1	0	32	271				
BAGE2	85319	broad.mit.edu	37	21	11049580	11049580	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11049580C>A	ENST00000470054.1	-	0	528							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTAAGAGGTCTCCCGGGCTG	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							75.0	58.0	63.0					21																	11049580		692	1590	2282			85319							g.chr21:11049580C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049580C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	528	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		38	959	1	0	1.32181e-22	1	1.49747e-22	38	959				
KLK7	5650	broad.mit.edu	37	19	51483600	51483600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51483600G>A	ENST00000391807.1	-	4	466	c.365C>T	c.(364-366)gCc>gTc	p.A122V	KLK7_ENST00000595820.1_Missense_Mutation_p.A122V|KLK7_ENST00000597707.1_Missense_Mutation_p.A50V|KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000595638.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	122	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGACAGCCTGGCCTGGCTATT	0.592																																						ENST00000391807.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19						c.(364-366)gCc>gTc		kallikrein-related peptidase 7							121.0	93.0	103.0					19																	51483600		2203	4300	6503	SO:0001583	missense	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51483600G>A	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.365C>T	19.37:g.51483600G>A	ENSP00000375683:p.Ala122Val					KLK7_ENST00000597707.1_Missense_Mutation_p.A50V|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000595820.1_Missense_Mutation_p.A122V	p.A122V	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	4	466	-		all_neural(266;0.026)	122			Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	c.365C>T	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	g	11.20	1.568450	0.28003	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;D	0.91686	-2.89;-2.23	4.6	0.361	0.16107	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254023	0.20322	N	0.094608	T	0.71239	0.3316	N	0.02916	-0.46	0.22656	N	0.99889	B	0.23937	0.094	B	0.16722	0.016	T	0.64162	-0.6472	10	0.02654	T	1	.	3.1037	0.06334	0.3087:0.0:0.4984:0.1929	.	122	P49862	KLK7_HUMAN	V	122;122;9	ENSP00000375683:A122V;ENSP00000337540:A9V	ENSP00000304791:A122V	A	-	2	0	KLK7	56175412	0.001000	0.12720	0.006000	0.13384	0.076000	0.17211	0.085000	0.14912	-0.128000	0.11641	0.448000	0.29417	GCC		0.592	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		49	202	0	0	0	1	0	49	202				
CHIT1	1118	broad.mit.edu	37	1	203192720	203192720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192720C>T	ENST00000367229.1	-	5	417	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	128					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTGTATTTGCGCAGAAACCT	0.567																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(382-384)cGc>cAc		chitinase 1 (chitotriosidase)							154.0	139.0	144.0					1																	203192720		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192720C>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.383G>A	1.37:g.203192720C>T	ENSP00000356198:p.Arg128His					CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H|CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H	p.R128H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			5	417	-			128					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.383G>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847641	0.51164	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.07114	3.22;3.22;3.22	5.0	4.09	0.47781	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.132232	0.34906	N	0.003582	T	0.27765	0.0683	M	0.76938	2.355	0.49389	D	0.99978	D;D	0.89917	0.998;1.0	P;D	0.91635	0.87;0.999	T	0.01468	-1.1347	10	0.66056	D	0.02	-5.7151	11.2471	0.49004	0.0:0.9098:0.0:0.0902	.	119;128	G5EA51;Q13231	.;CHIT1_HUMAN	H	128;109;119	ENSP00000356198:R128H;ENSP00000255427:R109H;ENSP00000438078:R119H	ENSP00000255427:R109H	R	-	2	0	CHIT1	201459343	0.998000	0.40836	0.503000	0.27626	0.339000	0.28857	4.054000	0.57434	1.084000	0.41184	0.643000	0.83706	CGC		0.567	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		149	582	0	0	0	1	0	149	582				
OPHN1	4983	broad.mit.edu	37	X	67283811	67283811	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67283811C>A	ENST00000355520.5	-	21	2684	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	681	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGATCTTGGTCCCTCCATCCT	0.612																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(2041-2043)ggG>ggT		oligophrenin 1							79.0	60.0	66.0					X																	67283811		2203	4300	6503	SO:0001819	synonymous_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283811C>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2043G>T	X.37:g.67283811C>A						OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	p.G681G	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			21	2684	-			681			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	c.2043G>T	CCDS14388.1																																																																																				0.612	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		39	177	1	0	1.49673e-21	1	1.68722e-21	39	177				
KRT79	338785	broad.mit.edu	37	12	53227585	53227585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53227585C>T	ENST00000330553.5	-	1	494	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	154	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGAAGGAGGCGAACTTGTTG	0.612																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(460-462)Gcc>Acc		keratin 79							127.0	125.0	126.0					12																	53227585		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227585C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.460G>A	12.37:g.53227585C>T	ENSP00000328358:p.Ala154Thr						p.A154T	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			1	494	-			154			Coil 1A.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.460G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474512	0.84640	.	.	ENSG00000185640	ENST00000330553	D	0.95205	-3.64	4.26	4.26	0.50523	Filament (1);	0.000000	0.48286	D	0.000188	D	0.98049	0.9357	H	0.95114	3.625	0.54753	D	0.999989	D	0.76494	0.999	D	0.76575	0.988	D	0.98942	1.0791	10	0.87932	D	0	.	16.9074	0.86131	0.0:1.0:0.0:0.0	.	154	Q5XKE5	K2C79_HUMAN	T	154	ENSP00000328358:A154T	ENSP00000328358:A154T	A	-	1	0	KRT79	51513852	1.000000	0.71417	0.976000	0.42696	0.725000	0.41563	7.602000	0.82796	2.643000	0.89663	0.591000	0.81541	GCC		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		136	755	0	0	0	1	0	136	755				
ATRX	546	broad.mit.edu	37	X	76939224	76939224	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76939224G>A	ENST00000373344.5	-	9	1738	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.N470N	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	508					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTCAGAAGTGTTGGCAGGTT	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1522-1524)aaC>aaT		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						211.0	212.0	212.0					X																	76939224		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939224G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1524C>T	X.37:g.76939224G>A						ATRX_ENST00000395603.3_Silent_p.N470N|ATRX_ENST00000480283.1_5'UTR	p.N508N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1738	-			508					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.1524C>T	CCDS14434.1																																																																																				0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		314	1107	0	0	0	1	0	314	1107				
GRIN3A	116443	broad.mit.edu	37	9	104432737	104432737	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104432737A>C	ENST00000361820.3	-	3	2557	c.1957T>G	c.(1957-1959)Ttg>Gtg	p.L653V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	653					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAGATGCCCAAGCTGGTGGAG	0.537																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1957-1959)Ttg>Gtg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						76.0	79.0	78.0					9																	104432737		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432737A>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1957T>G	9.37:g.104432737A>C	ENSP00000355155:p.Leu653Val						p.L653V	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2557	-		Acute lymphoblastic leukemia(62;0.0568)	653					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1957T>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134427	0.56828	.	.	ENSG00000198785	ENST00000361820	T	0.51574	0.7	5.63	4.5	0.54988	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000004	T	0.55862	0.1947	L	0.41961	1.31	0.53688	D	0.99997	P	0.47191	0.891	P	0.59825	0.864	T	0.54098	-0.8344	10	0.46703	T	0.11	.	11.7737	0.51972	0.931:0.0:0.069:0.0	.	653	Q8TCU5	NMD3A_HUMAN	V	653	ENSP00000355155:L653V	ENSP00000355155:L653V	L	-	1	2	GRIN3A	103472558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.160000	0.64929	1.084000	0.41184	0.473000	0.43528	TTG		0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			87	325	0	0	0	1	0	87	325				
ETV3L	440695	broad.mit.edu	37	1	157069139	157069139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157069139G>A	ENST00000454449.2	-	2	374	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	30					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGACGACTCGGCTTTGTAGG	0.647																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(88-90)gcC>gcT		ets variant 3-like							48.0	49.0	48.0					1																	157069139		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157069139G>A	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.90C>T	1.37:g.157069139G>A							p.A30A	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			2	374	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	30						Silent	SNP	ENST00000454449.2	37	c.90C>T	CCDS30893.1																																																																																				0.647	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		111	196	0	0	0	1	0	111	196				
OBSCN	84033	broad.mit.edu	37	1	228459737	228459737	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459737C>T	ENST00000422127.1	+	18	5181				OBSCN_ENST00000570156.2_Missense_Mutation_p.A1934V|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.A406V|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGAGGTGGCCCAAGCCCAG	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5800-5802)gCc>gTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							77.0	71.0	73.0					1																	228459737		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228459737C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5138-1734C>T	1.37:g.228459737C>T						OBSCN_ENST00000359599.6_Missense_Mutation_p.A406V|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron	p.A1934V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			20	5875	+		Prostate(94;0.0405)	915			Ig-like 19.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.5801C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986101	0.74589	.	.	ENSG00000154358	ENST00000359599	T	0.67698	-0.28	4.95	4.95	0.65309	.	.	.	.	.	T	0.77624	0.4158	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80103	-0.1522	6	0.62326	D	0.03	.	15.3414	0.74300	0.0:0.8602:0.1398:0.0	.	.	.	.	V	406	ENSP00000352613:A406V	ENSP00000352613:A406V	A	+	2	0	OBSCN	226526360	0.029000	0.19370	1.000000	0.80357	0.498000	0.33706	0.752000	0.26362	2.309000	0.77851	0.511000	0.50034	GCC		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		48	266	0	0	0	1	0	48	266				
SLC10A3	8273	broad.mit.edu	37	X	153716401	153716401	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716401C>A	ENST00000393587.4	-	3	1142	c.879G>T	c.(877-879)gtG>gtT	p.V293V	UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.V264V|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.V348V|SLC10A3_ENST00000263512.4_Silent_p.V293V	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	293					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGTGGCAGCCACCGTAGAGA	0.627																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(877-879)gtG>gtT		solute carrier family 10, member 3							59.0	59.0	59.0					X																	153716401		2202	4299	6501	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716401C>A	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.879G>T	X.37:g.153716401C>A						SLC10A3_ENST00000393587.4_Silent_p.V293V|SLC10A3_ENST00000369649.4_Silent_p.V264V|SLC10A3_ENST00000393586.1_Silent_p.V348V	p.V293V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	1377	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		293					Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.879G>T	CCDS14755.1																																																																																				0.627	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		121	369	1	0	9.67539e-52	1	1.20159e-51	121	369				
RAB11FIP1	80223	broad.mit.edu	37	8	37732467	37732467	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732467C>T	ENST00000330843.4	-	3	1200	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	RAB11FIP1_ENST00000524118.1_Silent_p.P248P|RAB11FIP1_ENST00000522727.1_Silent_p.P248P|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Silent_p.P396P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	396					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTCGGTAGGACGGCAGGGTCA	0.577																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1186-1188)ccG>ccA		RAB11 family interacting protein 1 (class I)							56.0	54.0	55.0					8																	37732467		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732467C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1188G>A	8.37:g.37732467C>T						RAB11FIP1_ENST00000287263.4_Silent_p.P396P|RAB11FIP1_ENST00000524118.1_Silent_p.P248P|RAB11FIP1_ENST00000522727.1_Silent_p.P248P	p.P396P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1200	-		Lung NSC(58;0.118)|all_lung(54;0.195)	396					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1188G>A	CCDS34882.1																																																																																				0.577	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		88	351	0	0	0	1	0	88	351				
SPATS2	65244	broad.mit.edu	37	12	49883338	49883338	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49883338G>T	ENST00000553127.1	+	6	709	c.196G>T	c.(196-198)Gta>Tta	p.V66L	SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L|SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	66						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GGACAAAACAGTACAAGCATT	0.323																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(196-198)Gta>Tta		spermatogenesis associated, serine-rich 2							116.0	102.0	107.0					12																	49883338		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49883338G>T	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.196G>T	12.37:g.49883338G>T	ENSP00000448228:p.Val66Leu					SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L|SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L	p.V66L			Q86XZ4	SPAS2_HUMAN			6	709	+			66					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.196G>T	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094313	0.76870	.	.	ENSG00000123352	ENST00000550997;ENST00000549538;ENST00000548710;ENST00000553127;ENST00000321898;ENST00000551540;ENST00000552918;ENST00000395063	.	.	.	5.33	5.33	0.75918	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.53249	1.67	0.80722	D	1	P	0.34800	0.469	B	0.28385	0.089	T	0.58891	-0.7556	9	0.72032	D	0.01	-4.6616	16.5539	0.84479	0.0:0.0:1.0:0.0	.	66	Q86XZ4	SPAS2_HUMAN	L	66	.	ENSP00000326841:V66L	V	+	1	0	SPATS2	48169605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.932000	0.92897	2.770000	0.95276	0.557000	0.71058	GTA		0.323	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		38	214	1	0	3.61848e-18	1	4.01023e-18	38	214				
NDUFS7	374291	broad.mit.edu	37	19	1391124	1391124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1391124G>A	ENST00000233627.9	+	6	711	c.415G>A	c.(415-417)Gac>Aac	p.D139N	AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000313408.7_Missense_Mutation_p.D139N|NDUFS7_ENST00000546283.1_Missense_Mutation_p.D139N|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N|AC005329.7_ENST00000501448.1_RNA	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	139					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	CCAGGTCTACGACCAGATGCC	0.692																																						ENST00000313408.7																			0				ovary(1)	1						c.(415-417)Gac>Aac		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						23.0	25.0	24.0					19																	1391124		2201	4299	6500	SO:0001583	missense	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1391124G>A	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.415G>A	19.37:g.1391124G>A	ENSP00000233627:p.Asp139Asn					NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000546283.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N|NDUFS7_ENST00000233627.9_Missense_Mutation_p.D139N|NDUFS7_ENST00000540530.1_3'UTR	p.D139N			O75251	NDUS7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	438	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	139					B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	ENST00000233627.9	37	c.415G>A	CCDS12063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.316424|2.316424	0.40996|0.40996	.|.	.|.	ENSG00000115286|ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382|ENST00000450862	T;T;T;T;T|.	0.78481|.	-1.18;-0.99;-1.18;-1.18;-1.18|.	4.44|4.44	4.44|4.44	0.53790|0.53790	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);|.	.|.	.|.	.|.	.|.	T|T	0.66396|0.66396	0.2785|0.2785	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.988;0.994;0.998;0.991|.	T|T	0.65092|0.65092	-0.6252|-0.6252	9|6	0.87932|0.02654	D|T	0|1	.|.	10.4224|10.4224	0.44359|0.44359	0.0977:0.0:0.9023:0.0|0.0977:0.0:0.9023:0.0	.|.	139;146;139;139|.	F5H5N1;Q8NAS7;B3KRI2;O75251|.	.;.;.;NDUS7_HUMAN|.	N|Q	139;139;139;139;169;58;58;58;58|140	ENSP00000440348:D139N;ENSP00000233627:D139N;ENSP00000443273:D139N;ENSP00000364262:D139N;ENSP00000406630:D169N|.	ENSP00000233627:D139N|ENSP00000388398:R140Q	D|R	+|+	1|2	0|0	NDUFS7|NDUFS7	1342124|1342124	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.176000|0.176000	0.22953|0.22953	7.182000|7.182000	0.77689|0.77689	2.016000|2.016000	0.59253|0.59253	0.511000|0.511000	0.50034|0.50034	GAC|CGA		0.692	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		32	93	0	0	0	1	0	32	93				
B4GALT3	8703	broad.mit.edu	37	1	161144912	161144912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161144912C>T	ENST00000319769.5	-	4	582	c.360G>A	c.(358-360)gaG>gaA	p.E120E	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.E120E|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	120					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGGAGCGGGGCTCACAACCTG	0.647																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(358-360)gaG>gaA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						87.0	87.0	87.0					1																	161144912		2203	4300	6503	SO:0001819	synonymous_variant	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161144912C>T	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.360G>A	1.37:g.161144912C>T						PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.E120E|B4GALT3_ENST00000470882.1_5'UTR	p.E120E	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	582	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		120					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Silent	SNP	ENST00000319769.5	37	c.360G>A	CCDS1222.1																																																																																				0.647	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		23	868	0	0	0	1	0	23	868				
KDM7A	80853	broad.mit.edu	37	7	139829450	139829450	+	Silent	SNP	G	G	A	rs368815114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139829450G>A	ENST00000397560.2	-	4	499	c.402C>T	c.(400-402)gcC>gcT	p.A134A	JHDM1D_ENST00000006967.5_Silent_p.A134A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		134					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTATTTCATCGGCACTAAGGA	0.328																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(400-402)gcC>gcT				G		1,3665		0,1,1832	87.0	79.0	81.0		402	2.7	1.0	7		81	0,8176		0,0,4088	no	coding-synonymous	JHDM1D	NM_030647.1		0,1,5920	AA,AG,GG		0.0,0.0273,0.0084		134/942	139829450	1,11841	1833	4088	5921	SO:0001819	synonymous_variant	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139829450G>A																												ENST00000397560.2:c.402C>T	7.37:g.139829450G>A						JHDM1D_ENST00000006967.5_Silent_p.A134A	p.A134A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			4	499	-	Melanoma(164;0.0142)		134					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	ENST00000397560.2	37	c.402C>T	CCDS43658.1																																																																																				0.328	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			34	180	0	0	0	1	0	34	180				
MID1IP1	58526	broad.mit.edu	37	X	38664233	38664233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38664233C>T	ENST00000336949.6	+	2	979	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y|MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	12					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CAACCAGAAGCACTCGCTCTT	0.627																																						ENST00000336949.6																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(34-36)Cac>Tac		MID1 interacting protein 1							121.0	82.0	95.0					X																	38664233		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664233C>T		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.34C>T	X.37:g.38664233C>T	ENSP00000338706:p.His12Tyr					MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y|MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y	p.H12Y	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN			2	979	+			12					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.34C>T	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138881	0.37728	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.194465	0.42172	D	0.000750	T	0.50837	0.1639	L	0.29908	0.895	0.45390	D	0.998374	B	0.22080	0.064	B	0.18263	0.021	T	0.49173	-0.8967	9	0.40728	T	0.16	-8.7866	15.3016	0.73955	0.0:1.0:0.0:0.0	.	12	Q9NPA3	M1IP1_HUMAN	Y	12	.	ENSP00000338706:H12Y	H	+	1	0	MID1IP1	38549177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.475000	0.60210	2.116000	0.64780	0.529000	0.55759	CAC		0.627	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			42	196	0	0	0	1	0	42	196				
MYT1L	23040	broad.mit.edu	37	2	1926671	1926671	+	Silent	SNP	C	C	T	rs369668763		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926671C>T	ENST00000399161.2	-	10	1617	c.870G>A	c.(868-870)tcG>tcA	p.S290S	MYT1L_ENST00000428368.2_Silent_p.S290S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	290					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCTTGCTGCGACATGCTGT	0.453																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(868-870)tcG>tcA		myelin transcription factor 1-like		C		2,4142		0,2,2070	195.0	196.0	196.0		870	-12.1	0.0	2		196	1,8439		0,1,4219	no	coding-synonymous	MYT1L	NM_015025.2		0,3,6289	TT,TC,CC		0.0118,0.0483,0.0238		290/1185	1926671	3,12581	2072	4220	6292	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926671C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.870G>A	2.37:g.1926671C>T						MYT1L_ENST00000428368.2_Silent_p.S290S	p.S290S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1617	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	290					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.870G>A																																																																																					0.453	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		136	870	0	0	0	1	0	136	870				
KIAA1522	57648	broad.mit.edu	37	1	33235788	33235788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33235788G>A	ENST00000373480.1	+	6	934	c.831G>A	c.(829-831)gaG>gaA	p.E277E	KIAA1522_ENST00000401073.2_Silent_p.E336E|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.E288E	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	277										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGAGCCCCTGAGCC	0.652																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1006-1008)gaG>gaA		KIAA1522							37.0	41.0	39.0					1																	33235788		2020	4157	6177	SO:0001819	synonymous_variant	57648							g.chr1:33235788G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.831G>A	1.37:g.33235788G>A						KIAA1522_ENST00000373481.3_Silent_p.E288E|KIAA1522_ENST00000373480.1_Silent_p.E277E|KIAA1522_ENST00000294521.3_Intron	p.E336E	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1078	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	277			Ser-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.1008G>A	CCDS55588.1																																																																																				0.652	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			47	410	0	0	0	1	0	47	410				
COL8A2	1296	broad.mit.edu	37	1	36563558	36563558	+	Missense_Mutation	SNP	G	G	A	rs145553904	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563558G>A	ENST00000397799.1	-	4	1948	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	COL8A2_ENST00000481785.1_Missense_Mutation_p.P510L|COL8A2_ENST00000303143.4_Missense_Mutation_p.P575L			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	575	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).		P -> L (in FECD1; unknown pathological significance; dbSNP:rs145553904). {ECO:0000269|PubMed:11689488}.		angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGAAGGCCGGTGTGGCATG	0.667													G|||	4	0.000798722	0.0	0.0014	5008	,	,		16265	0.0		0.003	False		,,,				2504	0.0					ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1723-1725)cCg>cTg		collagen, type VIII, alpha 2		G	LEU/PRO	0,4402		0,0,2201	26.0	25.0	25.0		1724	4.2	0.8	1	dbSNP_134	25	12,8586	8.4+/-32.0	0,12,4287	yes	missense	COL8A2	NM_005202.2	98	0,12,6488	AA,AG,GG		0.1396,0.0,0.0923	probably-damaging	575/704	36563558	12,12988	2201	4299	6500	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563558G>A	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1724C>T	1.37:g.36563558G>A	ENSP00000380901:p.Pro575Leu					COL8A2_ENST00000481785.1_Missense_Mutation_p.P510L|COL8A2_ENST00000303143.4_Missense_Mutation_p.P575L	p.P575L			P25067	CO8A2_HUMAN			4	1948	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	575		P -> L (in FECD1; uncertain pathogenicity).	C1q.|Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1724C>T	CCDS403.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.79	3.698095	0.68386	0.0	0.001396	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.85013	-1.93;-1.93;-1.93	4.23	4.23	0.50019	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.65323	0.934	D	0.92921	0.6355	10	0.40728	T	0.16	.	17.1366	0.86742	0.0:0.0:1.0:0.0	.	575	P25067	CO8A2_HUMAN	L	575;575;510;299	ENSP00000305913:P575L;ENSP00000380901:P575L;ENSP00000436433:P510L	ENSP00000305913:P575L	P	-	2	0	COL8A2	36336145	1.000000	0.71417	0.764000	0.31436	0.595000	0.36748	9.162000	0.94745	2.333000	0.79357	0.563000	0.77884	CCG		0.667	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		11	119	0	0	0	1	0	11	119				
TAL1	6886	broad.mit.edu	37	1	47685563	47685563	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47685563C>T	ENST00000294339.3	-	4	1401	c.825G>A	c.(823-825)gcG>gcA	p.A275A	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Silent_p.A277A|TAL1_ENST00000371884.2_Silent_p.A275A	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	275					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CATCTGGGGGCGCGccgcccc	0.701			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	ENST00000371883.3				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	"""TRD@, SIL"""		lymphoblastic leukemia/biphasic		0				haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(829-831)gcG>gcA		T-cell acute lymphocytic leukemia 1							12.0	15.0	14.0					1																	47685563		2157	4259	6416	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685563C>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.825G>A	1.37:g.47685563C>T						TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Silent_p.A275A|TAL1_ENST00000371884.2_Silent_p.A275A	p.A277A			P17542	TAL1_HUMAN			4	1407	-			275					D3DQ24	Silent	SNP	ENST00000294339.3	37	c.831G>A	CCDS547.1																																																																																				0.701	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		42	134	0	0	0	1	0	42	134				
SLC25A21	89874	broad.mit.edu	37	14	37194861	37194861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37194861C>T	ENST00000331299.5	-	6	867	c.352G>A	c.(352-354)Gga>Aga	p.G118R	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	118					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		AGTCCAGATCCCAATCCAGCA	0.358																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(352-354)Gga>Aga		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							94.0	89.0	91.0					14																	37194861		2203	4300	6503	SO:0001583	missense	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37194861C>T	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.352G>A	14.37:g.37194861C>T	ENSP00000329452:p.Gly118Arg					SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	p.G118R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	6	867	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		118					A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	37	c.352G>A	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440300	0.63067	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79033	-1.23;-1.23	5.43	5.43	0.79202	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	H	0.95004	3.61	0.80722	D	1	D	0.58620	0.983	D	0.66497	0.944	D	0.90820	0.4708	10	0.31617	T	0.26	-10.3573	19.3129	0.94198	0.0:1.0:0.0:0.0	.	118	Q9BQT8	ODC_HUMAN	R	118	ENSP00000451873:G118R;ENSP00000329452:G118R	ENSP00000329452:G118R	G	-	1	0	SLC25A21	36264612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.937000	0.70162	2.565000	0.86533	0.644000	0.83932	GGA		0.358	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		59	244	0	0	0	1	0	59	244				
PTCH1	5727	broad.mit.edu	37	9	98239123	98239123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98239123G>T	ENST00000331920.6	-	11	1819	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D|PTCH1_ENST00000430669.2_Missense_Mutation_p.A441D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	507	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1321-1323)gCt>gAt		patched 1							143.0	111.0	121.0					9																	98239123		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98239123G>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1520C>A	9.37:g.98239123G>T	ENSP00000332353:p.Ala507Asp					PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000331920.6_Missense_Mutation_p.A507D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D	p.A441D			Q13635	PTC1_HUMAN			11	1907	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	507			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1322C>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122708	0.77436	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.998	D	0.98834	1.0752	10	0.87932	D	0	-17.953	16.6136	0.84901	0.0:0.13:0.87:0.0	.	356;441;506;507	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	D	507;441;356;356;441;356;506;172	ENSP00000332353:A507D;ENSP00000389744:A441D;ENSP00000399981:A356D;ENSP00000396135:A356D;ENSP00000410287:A441D;ENSP00000414823:A356D;ENSP00000364423:A506D;ENSP00000364420:A172D	ENSP00000332353:A507D	A	-	2	0	PTCH1	97278944	1.000000	0.71417	0.946000	0.38457	0.550000	0.35303	9.263000	0.95617	1.562000	0.49601	0.655000	0.94253	GCT		0.428	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		20	122	1	0	1.2644e-06	1	1.30616e-06	20	122				
MSC	9242	broad.mit.edu	37	8	72754977	72754977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72754977C>A	ENST00000325509.4	-	2	829	c.540G>T	c.(538-540)tgG>tgT	p.W180C	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000537896.1_5'Flank|RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	180					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCACGAATGGCCATGTCTGTA	0.473																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(538-540)tgG>tgT		musculin							228.0	228.0	228.0					8																	72754977		1932	4132	6064	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754977C>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.540G>T	8.37:g.72754977C>A	ENSP00000321445:p.Trp180Cys					MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	p.W180C	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	829	-	Breast(64;0.176)		180					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.540G>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598965	0.87055	.	.	ENSG00000178860	ENST00000325509	D	0.87887	-2.31	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92801	0.6256	10	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	180	O60682	MUSC_HUMAN	C	180	ENSP00000321445:W180C	ENSP00000321445:W180C	W	-	3	0	MSC	72917531	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.137000	0.77295	2.559000	0.86315	0.462000	0.41574	TGG		0.473	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		76	1344	1	0	1.81118e-26	1	2.08805e-26	76	1344				
KRTAP15-1	254950	broad.mit.edu	37	21	31812700	31812700	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812700C>A	ENST00000334067.3	+	1	104	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	19						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGAAGTTACCTGAGGTATCC	0.463																																						ENST00000334067.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(55-57)Ctg>Atg		keratin associated protein 15-1							96.0	93.0	94.0					21																	31812700		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812700C>A	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.55C>A	21.37:g.31812700C>A	ENSP00000334866:p.Leu19Met						p.L19M	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	104	+			19					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.55C>A	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228604	0.39399	.	.	ENSG00000186970	ENST00000334067	T	0.03717	3.83	4.7	-0.183	0.13284	.	0.385350	0.18546	N	0.138051	T	0.11707	0.0285	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.03993	-1.0986	10	0.59425	D	0.04	-1.5745	7.2605	0.26201	0.0:0.5014:0.0:0.4986	.	19	Q3LI76	KR151_HUMAN	M	19	ENSP00000334866:L19M	ENSP00000334866:L19M	L	+	1	2	KRTAP15-1	30734571	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.369000	0.07533	-0.042000	0.13535	0.655000	0.94253	CTG		0.463	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			33	324	1	0	1.61788e-16	1	1.7777e-16	33	324				
AGER	177	broad.mit.edu	37	6	32151969	32151969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32151969C>T	ENST00000375076.4	-	1	132	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000438221.2_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000375067.3_Missense_Mutation_p.V11M	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	11					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGACCAGCACCCAGGCTCCA	0.627																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(31-33)Gtg>Atg		advanced glycosylation end product-specific receptor							71.0	47.0	55.0					6																	32151969		1511	2709	4220	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32151969C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.31G>A	6.37:g.32151969C>T	ENSP00000364217:p.Val11Met					AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|AGER_ENST00000375067.3_Missense_Mutation_p.V11M|AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000438221.2_Missense_Mutation_p.V11M	p.V11M	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			1	132	-			11					A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.31G>A	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648675	0.29336	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000546237;ENST00000438221;ENST00000375065;ENST00000450110;ENST00000375056;ENST00000538695	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.67	1.38	0.22167	.	0.482456	0.17591	N	0.168765	T	0.17789	0.0427	N	0.14661	0.345	0.80722	D	1	B;B;D;B;P;P;D;B;B;P;P;B	0.69078	0.36;0.055;0.997;0.36;0.5;0.633;0.996;0.36;0.156;0.5;0.831;0.027	B;B;D;B;B;B;D;B;B;B;B;B	0.78314	0.09;0.063;0.991;0.09;0.09;0.184;0.986;0.09;0.063;0.111;0.284;0.046	T	0.11518	-1.0584	10	0.51188	T	0.08	-4.4117	4.2601	0.10737	0.1736:0.6105:0.0:0.2159	.	11;11;11;11;11;11;11;11;11;11;11;11	B5A978;B5A979;B5A981;B5A980;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	M	11;11;11;42;11;11;11;11;11;11	ENSP00000364208:V11M;ENSP00000364195:V11M;ENSP00000364217:V11M;ENSP00000364211:V42M;ENSP00000387887:V11M;ENSP00000364206:V11M;ENSP00000398466:V11M;ENSP00000364196:V11M;ENSP00000445389:V11M	ENSP00000364195:V11M	V	-	1	0	AGER	32259947	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.350000	0.20079	0.452000	0.26830	0.655000	0.94253	GTG		0.627	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		20	131	0	0	0	1	0	20	131				
GPT2	84706	broad.mit.edu	37	16	46918680	46918680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46918680G>T	ENST00000340124.4	+	2	165	c.53G>T	c.(52-54)aGc>aTc	p.S18I	GPT2_ENST00000440783.2_5'Flank	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	18					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CGGACCCCCAGCTCCTGGGGC	0.721																																						ENST00000340124.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(52-54)aGc>aTc		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						7.0	9.0	8.0					16																	46918680		1422	3190	4612	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46918680G>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.53G>T	16.37:g.46918680G>T	ENSP00000345282:p.Ser18Ile						p.S18I	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN			2	165	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	18					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.53G>T	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093386	0.36952	.	.	ENSG00000166123	ENST00000340124	D	0.83075	-1.68	4.92	4.92	0.64577	.	1.077360	0.07185	N	0.854704	T	0.72301	0.3443	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.53556	-0.8422	10	0.42905	T	0.14	.	15.1791	0.72941	0.0:0.0:1.0:0.0	.	18	Q8TD30	ALAT2_HUMAN	I	18	ENSP00000345282:S18I	ENSP00000345282:S18I	S	+	2	0	GPT2	45476181	0.479000	0.25925	0.367000	0.25926	0.088000	0.18126	2.108000	0.41854	2.434000	0.82447	0.313000	0.20887	AGC		0.721	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			44	99	1	0	6.33695e-27	1	7.31871e-27	44	99				
RGS19	10287	broad.mit.edu	37	20	62705215	62705215	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705215G>A	ENST00000395042.1	-	6	911	c.645C>T	c.(643-645)tcC>tcT	p.S215S	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.S215S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	215	Interaction with GIPC.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCTAGGCCTCGGAGGAGGACT	0.662																																						ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(643-645)tcC>tcT		regulator of G-protein signaling 19							66.0	60.0	62.0					20																	62705215		2203	4300	6503	SO:0001819	synonymous_variant	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705215G>A	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.645C>T	20.37:g.62705215G>A						RGS19_ENST00000332298.5_Silent_p.S215S	p.S215S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			6	911	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		215			Interaction with GIPC.		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	c.645C>T	CCDS13555.1																																																																																				0.662	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		49	282	0	0	0	1	0	49	282				
CLDN3	1365	broad.mit.edu	37	7	73184141	73184141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184141C>T	ENST00000395145.2	-	1	459	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	80					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GATGAGGGCGCGGGCCGCCTG	0.677																																						ENST00000395145.2																			0				kidney(1)|lung(1)	2						c.(238-240)cGc>cAc		claudin 3							43.0	36.0	39.0					7																	73184141		2203	4300	6503	SO:0001583	missense	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73184141C>T	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.239G>A	7.37:g.73184141C>T	ENSP00000378577:p.Arg80His						p.R80H	NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN			1	459	-		Lung NSC(55;0.159)	80						Missense_Mutation	SNP	ENST00000395145.2	37	c.239G>A	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245394	0.95272	.	.	ENSG00000165215	ENST00000395145	D	0.89875	-2.58	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.96883	0.8982	H	0.98951	4.38	0.49582	D	0.999803	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	.	15.4509	0.75271	0.0:1.0:0.0:0.0	.	80	O15551	CLD3_HUMAN	H	80	ENSP00000378577:R80H	ENSP00000378577:R80H	R	-	2	0	CLDN3	72822077	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.773000	0.85462	2.223000	0.72356	0.561000	0.74099	CGC		0.677	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		14	174	0	0	0	1	0	14	174				
BCKDHB	594	broad.mit.edu	37	6	80912929	80912929	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80912929G>T	ENST00000320393.6	+	8	998	c.951G>T	c.(949-951)aaG>aaT	p.K317N	BCKDHB_ENST00000356489.5_Splice_Site_p.K317N|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	317					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CAATTTGTAAGGTATGAATAT	0.368																																						ENST00000320393.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.e8+1		branched chain keto acid dehydrogenase E1, beta polypeptide							115.0	115.0	115.0					6																	80912929		2203	4300	6503	SO:0001630	splice_region_variant	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80912929G>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.951+1G>T	6.37:g.80912929G>T						BCKDHB_ENST00000356489.5_Splice_Site_p.K317_splice|BCKDHB_ENST00000545529.1_3'UTR	p.K317_splice	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	8	998	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	317					Q5T2J3|Q9BQL0	Splice_Site	SNP	ENST00000320393.6	37	c.951_splice	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743814	0.30865	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.91295	-2.82;-2.82	5.92	5.06	0.68205	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.043164	0.85682	D	0.000000	T	0.72787	0.3504	N	0.20328	0.56	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.69383	-0.5160	10	0.25751	T	0.34	-18.8136	11.0312	0.47774	0.0849:0.0:0.9151:0.0	.	317	P21953	ODBB_HUMAN	N	317;317;247	ENSP00000318351:K317N;ENSP00000348880:K317N	ENSP00000318351:K317N	K	+	3	2	BCKDHB	80969648	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.117000	0.77129	1.518000	0.48934	-0.136000	0.14681	AAG		0.368	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056	Missense_Mutation	56	301	1	0	2.93687e-30	1	3.44351e-30	56	301				
KCNG2	26251	broad.mit.edu	37	18	77659486	77659486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659486C>T	ENST00000316249.3	+	2	1071	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	357					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCAGCGTGCCCGCCAGCTATT	0.706																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1069-1071)ccC>ccT		potassium voltage-gated channel, subfamily G, member 2							24.0	25.0	25.0					18																	77659486		2201	4298	6499	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659486C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1071C>T	18.37:g.77659486C>T						KCNG2_ENST00000590307.1_3'UTR	p.P357P	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1071	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	357						Silent	SNP	ENST00000316249.3	37	c.1071C>T	CCDS12019.1																																																																																				0.706	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		26	196	0	0	0	1	0	26	196				
HTR1A	3350	broad.mit.edu	37	5	63256774	63256774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256774G>A	ENST00000323865.3	-	1	1006	c.773C>T	c.(772-774)tCg>tTg	p.S258L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	258					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S258L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTGCTCCCCGACTCTCCATT	0.657																																						ENST00000323865.3																			1	Substitution - Missense(1)	p.S258L(1)	lung(1)	cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(772-774)tCg>tTg		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						58.0	56.0	57.0					5																	63256774		2203	4299	6502	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256774G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.773C>T	5.37:g.63256774G>A	ENSP00000316244:p.Ser258Leu					RP11-158J3.2_ENST00000502882.1_RNA	p.S258L	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1006	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	258					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.773C>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	0.413	-0.912302	0.02415	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.17	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.421461	0.25566	N	0.029793	T	0.42154	0.1190	N	0.25245	0.725	0.22541	N	0.999003	B	0.02656	0.0	B	0.04013	0.001	T	0.19582	-1.0301	10	0.26408	T	0.33	.	7.3854	0.26880	0.1445:0.0:0.72:0.1355	.	258	P08908	5HT1A_HUMAN	L	258	ENSP00000316244:S258L	ENSP00000316244:S258L	S	-	2	0	HTR1A	63292530	0.553000	0.26513	0.001000	0.08648	0.010000	0.07245	2.917000	0.48821	0.349000	0.23975	0.655000	0.94253	TCG		0.657	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		107	463	0	0	0	1	0	107	463				
ANKRD52	283373	broad.mit.edu	37	12	56647941	56647941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647941G>A	ENST00000267116.7	-	8	937	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	272										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGGCGTGAAGCCCTTGTCAT	0.557																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(814-816)ggC>ggT		ankyrin repeat domain 52							116.0	134.0	128.0					12																	56647941		2090	4238	6328	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56647941G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.816C>T	12.37:g.56647941G>A							p.G272G	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			8	937	-			272					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.816C>T	CCDS44920.1																																																																																				0.557	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		117	508	0	0	0	1	0	117	508				
DPY19L3	147991	broad.mit.edu	37	19	32954831	32954831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32954831G>A	ENST00000342179.5	+	14	1717	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	501						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGCCTATGTAGCCCTGAAATA	0.438																																						ENST00000342179.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32						c.(1501-1503)aGc>aAc		dpy-19-like 3 (C. elegans)							247.0	220.0	230.0					19																	32954831		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32954831G>A		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1502G>A	19.37:g.32954831G>A	ENSP00000344937:p.Ser501Asn					DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N	p.S501N	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN			14	1717	+	Esophageal squamous(110;0.162)		501					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1502G>A	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905790	0.72868	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.61980	0.06;0.06	4.93	4.93	0.64822	.	0.101993	0.64402	D	0.000001	T	0.67192	0.2867	M	0.67569	2.06	0.41464	D	0.988064	B	0.32324	0.364	B	0.38106	0.265	T	0.71741	-0.4501	10	0.72032	D	0.01	-17.6341	18.1687	0.89737	0.0:0.0:1.0:0.0	.	501	Q6ZPD9	D19L3_HUMAN	N	501	ENSP00000376081:S501N;ENSP00000344937:S501N	ENSP00000315672:S501N	S	+	2	0	DPY19L3	37646671	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	8.503000	0.90509	2.284000	0.76573	0.557000	0.71058	AGC		0.438	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		148	660	0	0	0	1	0	148	660				
DIDO1	11083	broad.mit.edu	37	20	61537393	61537393	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61537393T>C	ENST00000266070.4	-	6	1759	c.1434A>G	c.(1432-1434)acA>acG	p.T478T	DIDO1_ENST00000354665.4_Silent_p.T478T|DIDO1_ENST00000370368.1_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T|DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000370366.1_Silent_p.T478T|DIDO1_ENST00000370371.4_Silent_p.T478T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	478					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCTTCTTCACTGTGGTCTCTT	0.488																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1432-1434)acA>acG		death inducer-obliterator 1							108.0	115.0	113.0					20																	61537393		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61537393T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1434A>G	20.37:g.61537393T>C						DIDO1_ENST00000370371.4_Silent_p.T478T|DIDO1_ENST00000370366.1_Silent_p.T478T|DIDO1_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000354665.4_Silent_p.T478T|DIDO1_ENST00000370368.1_Silent_p.T478T|DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T	p.T478T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			6	1759	-	Breast(26;5.68e-08)		478					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.1434A>G	CCDS33506.1																																																																																				0.488	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		12	691	0	0	0	1	0	12	691				
DDX41	51428	broad.mit.edu	37	5	176940011	176940011	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176940011C>T	ENST00000507955.1	-	12	1826		c.e12+1		DOK3_ENST00000501403.2_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41						apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCTGCACTCACAGGCGGGGGT	0.637																																						ENST00000507955.1																			0											c.e12+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							89.0	97.0	94.0					5																	176940011		2203	4300	6503	SO:0001630	splice_region_variant	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176940011C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1302+1G>A	5.37:g.176940011C>T								NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		12	1826	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Splice_Site	SNP	ENST00000507955.1	37		CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839580	0.71488	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1173	0.65161	0.0:0.9279:0.0:0.0721	.	.	.	.	.	-1	.	.	.	-	.	.	DDX41	176872617	1.000000	0.71417	0.896000	0.35187	0.367000	0.29736	5.691000	0.68249	1.455000	0.47813	0.655000	0.94253	.		0.637	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	Intron	74	867	0	0	0	1	0	74	867				
POSTN	10631	broad.mit.edu	37	13	38160387	38160387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38160387C>T	ENST00000379747.4	-	7	901	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T|POSTN_ENST00000541179.1_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_Missense_Mutation_p.A262T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	262	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCCAAGGGCCTCCAATATG	0.453																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(784-786)Gcc>Acc		periostin, osteoblast specific factor							106.0	92.0	97.0					13																	38160387		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160387C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.784G>A	13.37:g.38160387C>T	ENSP00000369071:p.Ala262Thr					POSTN_ENST00000541179.1_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_Missense_Mutation_p.A262T|POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T	p.A262T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	901	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	262			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.784G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500245	0.04291	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.67	-11.3	0.00108	FAS1 domain (4);	0.942284	0.09131	N	0.844389	T	0.55705	0.1937	N	0.00602	-1.34	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.002;0.007;0.002;0.002;0.004;0.001;0.002	T	0.52601	-0.8554	10	0.02654	T	1	.	7.6951	0.28590	0.4374:0.1388:0.0:0.4238	.	262;262;262;262;262;262;262	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	262;262;262;262;262;262;179	ENSP00000437959:A262T;ENSP00000369073:A262T;ENSP00000369071:A262T;ENSP00000369067:A262T;ENSP00000369066:A262T;ENSP00000437953:A262T	ENSP00000369066:A262T	A	-	1	0	POSTN	37058387	0.000000	0.05858	0.017000	0.16124	0.496000	0.33645	-0.702000	0.05069	-3.501000	0.00151	-0.169000	0.13324	GCC		0.453	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		56	260	0	0	0	1	0	56	260				
MYT1	4661	broad.mit.edu	37	20	62843485	62843485	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62843485A>G	ENST00000328439.1	+	9	1875	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	MYT1_ENST00000536311.1_Missense_Mutation_p.H504R|MYT1_ENST00000360149.4_Missense_Mutation_p.H206R	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCAACACGCACAGAAGGTAC	0.667																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1510-1512)cAc>cGc		myelin transcription factor 1							103.0	98.0	99.0					20																	62843485		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62843485A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1511A>G	20.37:g.62843485A>G	ENSP00000327465:p.His504Arg					MYT1_ENST00000360149.4_Missense_Mutation_p.H206R|MYT1_ENST00000328439.1_Missense_Mutation_p.H504R	p.H504R			Q01538	MYT1_HUMAN			9	1875	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		504					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1511A>G	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842425	0.51057	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.61040	0.26;0.14;1.66	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.85130	0.995;0.997;0.997	D	0.85237	0.1036	10	0.87932	D	0	-25.2467	14.0537	0.64754	1.0:0.0:0.0:0.0	.	504;504;206	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	R	206;504;504	ENSP00000353269:H206R;ENSP00000327465:H504R;ENSP00000442412:H504R	ENSP00000327465:H504R	H	+	2	0	MYT1	62313929	1.000000	0.71417	0.986000	0.45419	0.686000	0.39977	9.204000	0.95041	1.777000	0.52277	0.455000	0.32223	CAC		0.667	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		135	532	0	0	0	1	0	135	532				
RTN2	6253	broad.mit.edu	37	19	45996450	45996450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45996450C>A	ENST00000245923.4	-	5	1236	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000590526.1_Missense_Mutation_p.S60I|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	334					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTGAGAGGCTGGGGACACC	0.637																																						ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(178-180)aGc>aTc		reticulon 2							83.0	91.0	88.0					19																	45996450		2202	4294	6496	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45996450C>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1001G>T	19.37:g.45996450C>A	ENSP00000245923:p.Ser334Ile					PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000245923.4_Missense_Mutation_p.S334I|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000344680.4_Intron	p.S60I			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	5	1305	-		Ovarian(192;0.051)|all_neural(266;0.112)	334					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.179G>T	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835262	0.71373	.	.	ENSG00000125744	ENST00000245923	T	0.48522	0.81	4.42	2.3	0.28687	.	0.963263	0.08459	U	0.942690	T	0.29945	0.0749	N	0.08118	0	0.80722	D	1	P	0.41041	0.736	P	0.44477	0.451	T	0.05338	-1.0891	10	0.21540	T	0.41	-2.4034	6.1929	0.20534	0.0:0.7722:0.0:0.2278	.	334	O75298	RTN2_HUMAN	I	334	ENSP00000245923:S334I	ENSP00000245923:S334I	S	-	2	0	RTN2	50688290	0.995000	0.38212	0.997000	0.53966	0.965000	0.64279	0.486000	0.22340	0.789000	0.33779	0.467000	0.42956	AGC		0.637	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		184	895	1	0	7.31253e-68	1	9.26744e-68	184	895				
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	rs144033515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517													c|||	1	0.000199681	0.0	0.0	5008	,	,		19924	0.001		0.0	False		,,,				2504	0.0				Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(802-804)Gca>Aca		ubiquilin 3			THR/ALA	0,4402		0,0,2201	122.0	106.0	112.0		802	5.6	1.0	11	dbSNP_134	112	3,8591	3.0+/-9.4	0,3,4294	yes	missense	UBQLN3	NM_017481.2	58	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	268/656	5529987	3,12993	2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529987C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.802G>A	11.37:g.5529987C>T	ENSP00000347997:p.Ala268Thr					HBG2_ENST00000380259.2_Intron	p.A268T	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	949	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	268					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.802G>A	CCDS7758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.0	4.086352	0.76642	0.0	3.49E-4	ENSG00000175520	ENST00000311659	T	0.51817	0.69	5.63	5.63	0.86233	.	0.000000	0.45126	D	0.000389	T	0.54159	0.1841	M	0.88181	2.935	0.47094	D	0.999313	P	0.39060	0.657	B	0.30105	0.111	T	0.66396	-0.5934	10	0.87932	D	0	-11.0381	17.5369	0.87834	0.0:1.0:0.0:0.0	.	268	Q9H347	UBQL3_HUMAN	T	268	ENSP00000347997:A268T	ENSP00000347997:A268T	A	-	1	0	UBQLN3	5486563	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	7.322000	0.79097	2.804000	0.96469	0.586000	0.80456	GCA		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		103	464	0	0	0	1	0	103	464				
RNF123	63891	broad.mit.edu	37	3	49735557	49735557	+	Missense_Mutation	SNP	G	G	A	rs538967921		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735557G>A	ENST00000327697.6	+	7	614	c.470G>A	c.(469-471)cGc>cAc	p.R157H	RNF123_ENST00000432042.1_Missense_Mutation_p.R11H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	157	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ATCAGCTGCCGCTTCAACCAG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14638	0.0		0.0	False		,,,				2504	0.0					ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(469-471)cGc>cAc		ring finger protein 123							52.0	55.0	54.0					3																	49735557		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735557G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.470G>A	3.37:g.49735557G>A	ENSP00000328287:p.Arg157His					RNF123_ENST00000432042.1_Missense_Mutation_p.R11H	p.R157H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	7	614	+			157			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.470G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484585	0.96323	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.72051	-0.62;-0.62	5.85	5.85	0.93711	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.240919	0.36374	N	0.002630	D	0.82797	0.5115	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82804	-0.0276	10	0.62326	D	0.03	-28.8845	19.1459	0.93467	0.0:0.0:1.0:0.0	.	157	Q5XPI4	RN123_HUMAN	H	157;157;11	ENSP00000328287:R157H;ENSP00000392443:R11H	ENSP00000328287:R157H	R	+	2	0	RNF123	49710561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.198000	0.77823	2.767000	0.95098	0.655000	0.94253	CGC		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		8	333	0	0	0	1	0	8	333				
ZFHX4	79776	broad.mit.edu	37	8	77763508	77763508	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77763508C>A	ENST00000521891.2	+	10	4799	c.4351C>A	c.(4351-4353)Ctg>Atg	p.L1451M	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACCCTGAACTGAGTGAAGC	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4351-4353)Ctg>Atg		zinc finger homeobox 4							42.0	41.0	41.0					8																	77763508		1984	4159	6143	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763508C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4351C>A	8.37:g.77763508C>A	ENSP00000430497:p.Leu1451Met	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M	p.L1451M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4799	+			1406					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4351C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161838	0.38217	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56275	0.48;0.52;0.47;0.49	5.01	3.12	0.35913	Zinc finger, C2H2 (1);	0.000000	0.35615	U	0.003097	T	0.62466	0.2430	L	0.50333	1.59	0.48901	D	0.999721	D;D;D	0.76494	0.989;0.999;0.994	P;D;P	0.66979	0.786;0.948;0.894	T	0.64972	-0.6281	10	0.72032	D	0.01	.	10.7432	0.46166	0.0:0.7962:0.1309:0.0729	.	1406;1406;1451	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	1451;1451;1406;1406;1425	ENSP00000430497:L1451M;ENSP00000399605:L1406M;ENSP00000050961:L1406M;ENSP00000430848:L1425M	ENSP00000050961:L1406M	L	+	1	2	ZFHX4	77926063	1.000000	0.71417	0.977000	0.42913	0.822000	0.46500	5.927000	0.70080	1.313000	0.45069	0.549000	0.68633	CTG		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		29	107	1	0	3.99451e-17	1	4.40333e-17	29	107				
UNC50	25972	broad.mit.edu	37	2	99226382	99226382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226382C>T	ENST00000357765.2	+	2	312	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.L71F|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.L71F|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	54					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTGGCAGATGCTCTACCTGTT	0.488																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(211-213)Ctc>Ttc		unc-50 homolog (C. elegans)							105.0	107.0	106.0					2																	99226382		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226382C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.160C>T	2.37:g.99226382C>T	ENSP00000350409:p.Leu54Phe					UNC50_ENST00000357765.2_Missense_Mutation_p.L54F|UNC50_ENST00000409347.1_Missense_Mutation_p.L71F	p.L71F			Q53HI1	UNC50_HUMAN			1	1341	+			54					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.211C>T	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823659	0.50739	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.126220	0.56097	D	0.000040	T	0.45013	0.1321	N	0.20685	0.6	0.80722	D	1	B	0.25007	0.116	B	0.28638	0.092	T	0.32508	-0.9904	9	0.16420	T	0.52	-20.4457	18.0646	0.89387	0.0:1.0:0.0:0.0	.	54	Q53HI1	UNC50_HUMAN	F	54;71;71	.	ENSP00000350409:L54F	L	+	1	0	UNC50	98592814	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.511000	0.60462	2.505000	0.84491	0.591000	0.81541	CTC		0.488	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		107	546	0	0	0	1	0	107	546				
ABI1	10006	broad.mit.edu	37	10	27149786	27149786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27149786C>T	ENST00000376142.2	-	1	78	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ABI1_ENST00000346832.5_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000355394.4_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	3					actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCAGCTCTGCCATTTTC	0.562																																						ENST00000355394.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(7-9)Gag>Aag		abl-interactor 1							159.0	119.0	133.0					10																	27149786		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27149786C>T	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.7G>A	10.37:g.27149786C>T	ENSP00000365312:p.Glu3Lys					ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000376142.2_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000346832.5_Missense_Mutation_p.E3K	p.E3K			Q8IZP0	ABI1_HUMAN			1	230	-			3					A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.7G>A	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416588	0.83449	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.81942	2.565	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B	0.23891	0.031;0.001;0.093;0.008;0.009;0.008;0.029;0.01;0.01;0.017;0.017;0.022	B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.007;0.007;0.035;0.012;0.013;0.003;0.044;0.006;0.016;0.024;0.024;0.011	D	0.91037	0.4868	10	0.72032	D	0.01	-8.868	17.3129	0.87214	0.0:1.0:0.0:0.0	.	3;3;3;3;3;28;3;3;3;3;3;3	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	K	3	ENSP00000365308:E3K;ENSP00000365340:E3K;ENSP00000365336:E3K;ENSP00000365330:E3K;ENSP00000365312:E3K;ENSP00000352114:E3K;ENSP00000365309:E3K;ENSP00000347555:E3K;ENSP00000279599:E3K;ENSP00000365304:E3K;ENSP00000365307:E3K;ENSP00000439646:E3K;ENSP00000440101:E3K;ENSP00000365310:E3K	ENSP00000279599:E3K	E	-	1	0	ABI1	27189792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.100000	0.76989	2.496000	0.84212	0.563000	0.77884	GAG		0.562	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		14	404	0	0	0	1	0	14	404				
TMPRSS15	5651	broad.mit.edu	37	21	19642342	19642342	+	Missense_Mutation	SNP	C	C	T	rs144640412		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642342C>T	ENST00000284885.3	-	25	3037	c.3004G>A	c.(3004-3006)Gga>Aga	p.G1002R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1002	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCATACACTCCGGGGCGATTA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		11769	0.0		0.001	False		,,,				2504	0.0					ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(3004-3006)Gga>Aga		transmembrane protease, serine 15		C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	130.0	117.0	122.0		3004	4.2	1.0	21	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMPRSS15	NM_002772.2	125	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	probably-damaging	1002/1020	19642342	4,13002	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19642342C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.3004G>A	21.37:g.19642342C>T	ENSP00000284885:p.Gly1002Arg						p.G1002R	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			25	3037	-			1002			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.3004G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088709	0.55968	4.54E-4	2.33E-4	ENSG00000154646	ENST00000284885	D	0.91180	-2.8	5.99	4.19	0.49359	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	H	0.96430	3.82	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.96634	0.9469	9	.	.	.	.	12.0887	0.53713	0.0:0.8633:0.0:0.1367	.	1002	P98073	ENTK_HUMAN	R	1002	ENSP00000284885:G1002R	.	G	-	1	0	TMPRSS15	18564213	1.000000	0.71417	0.960000	0.40013	0.151000	0.21798	4.990000	0.63876	0.878000	0.35920	0.655000	0.94253	GGA		0.453	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		77	321	0	0	0	1	0	77	321				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	250	0	0	0	1	0	8	250				
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48110168C>A	ENST00000422538.3	-	6	788	c.666G>T	c.(664-666)caG>caT	p.Q222H	ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame|ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	222					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000542202.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14								endonuclease, polyU-specific							130.0	119.0	123.0					12																	48110168		2203	4300	6503	SO:0001583	missense	8909				female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity	g.chr12:48110168C>A	M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.666G>T	12.37:g.48110168C>A	ENSP00000397679:p.Gln222His		OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000422538.3_Missense_Mutation_p.Q222H|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H				P21128	ENDOU_HUMAN			0	415	-								B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Translation_Start_Site	SNP	ENST00000422538.3	37		CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634583	0.29068	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32515	1.45;1.46	6.06	5.16	0.70880	.	0.278254	0.43260	D	0.000585	T	0.32526	0.0832	L	0.56396	1.775	0.80722	D	1	B;B;P	0.38745	0.447;0.444;0.645	B;B;B	0.40982	0.143;0.345;0.234	T	0.12041	-1.0563	10	0.54805	T	0.06	-32.8867	9.3973	0.38410	0.1423:0.7846:0.0:0.0732	.	159;222;181	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	H	181;222;159	ENSP00000229003:Q181H;ENSP00000397679:Q222H	ENSP00000229003:Q181H	Q	-	3	2	ENDOU	46396435	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.082000	0.41605	1.548000	0.49413	0.655000	0.94253	CAG		0.562	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		56	290	1	0	3.4597e-24	1	3.94879e-24	56	290				
ACTC1	70	broad.mit.edu	37	15	35084354	35084354	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35084354C>A	ENST00000290378.4	-	5	1400	c.745G>T	c.(745-747)Gtc>Ttc	p.V249F	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	249					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATAGTGATGACTTGGCCATCA	0.532																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(745-747)Gtc>Ttc		actin, alpha, cardiac muscle 1							98.0	92.0	94.0					15																	35084354		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35084354C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.745G>T	15.37:g.35084354C>A	ENSP00000290378:p.Val249Phe					ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	p.V249F	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	5	1400	-		all_lung(180;2.3e-08)	249					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.745G>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892425	0.52121	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94758	-3.51	4.75	4.75	0.60458	.	0.000000	0.47093	U	0.000258	D	0.97841	0.9291	H	0.96576	3.845	0.80722	D	1	P	0.39535	0.677	P	0.51918	0.684	D	0.99364	1.0918	10	0.87932	D	0	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	249	P68032	ACTC_HUMAN	F	249;214	ENSP00000290378:V249F	ENSP00000290378:V249F	V	-	1	0	ACTC1	32871646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.630000	0.89119	0.655000	0.94253	GTC		0.532	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		63	233	1	0	6.20203e-27	1	7.16519e-27	63	233				
PNMA5	114824	broad.mit.edu	37	X	152159032	152159032	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152159032C>T	ENST00000439251.1	-	2	1549	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T|PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	371					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGACCTTGCCTGCACGGTG	0.587																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1111-1113)Gca>Aca		paraneoplastic Ma antigen family member 5							85.0	75.0	78.0					X																	152159032		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159032C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1111G>A	X.37:g.152159032C>T	ENSP00000388850:p.Ala371Thr					PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T|PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T	p.A371T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1549	-	Acute lymphoblastic leukemia(192;6.56e-05)		371					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.1111G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361264	0.24684	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	3.13	-0.979	0.10276	.	.	.	.	.	T	0.04452	0.0122	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.46898	-0.9158	9	0.16420	T	0.52	-24.3667	3.8085	0.08788	0.0:0.3323:0.3985:0.2692	.	371	Q96PV4	PNMA5_HUMAN	T	371	ENSP00000354834:A371T;ENSP00000445775:A371T;ENSP00000388850:A371T;ENSP00000392342:A371T	ENSP00000354834:A371T	A	-	1	0	PNMA5	151909688	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	-0.928000	0.03980	-0.376000	0.07943	-0.880000	0.02959	GCA		0.587	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		107	335	0	0	0	1	0	107	335				
ACSM5	54988	broad.mit.edu	37	16	20422901	20422901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20422901C>A	ENST00000331849.4	+	2	242	c.95C>A	c.(94-96)cCt>cAt	p.P32H	ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	32					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTACCTGTTCCTCAGAAGATC	0.577																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(94-96)cCt>cAt		acyl-CoA synthetase medium-chain family member 5							90.0	75.0	80.0					16																	20422901		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20422901C>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.95C>A	16.37:g.20422901C>A	ENSP00000327916:p.Pro32His					ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	p.P32H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			2	242	+			32					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.95C>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879921	0.33162	.	.	ENSG00000183549	ENST00000331849	T	0.51817	0.69	4.69	3.74	0.42951	.	1.094530	0.07036	N	0.829339	T	0.44222	0.1283	L	0.46157	1.445	0.21355	N	0.999718	B	0.28933	0.228	B	0.29176	0.099	T	0.34527	-0.9825	10	0.34782	T	0.22	-6.7651	10.9456	0.47299	0.0:0.9118:0.0:0.0882	.	32	Q6NUN0	ACSM5_HUMAN	H	32	ENSP00000327916:P32H	ENSP00000327916:P32H	P	+	2	0	ACSM5	20330402	0.007000	0.16637	0.277000	0.24703	0.061000	0.15899	1.969000	0.40510	1.187000	0.43000	-0.140000	0.14226	CCT		0.577	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		50	205	1	0	1.86633e-21	1	2.10207e-21	50	205				
ZFHX3	463	broad.mit.edu	37	16	72821414	72821414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821414C>T	ENST00000268489.5	-	10	11433	c.10761G>A	c.(10759-10761)tcG>tcA	p.S3587S	ZFHX3_ENST00000397992.5_Silent_p.S2673S|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3587					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCAGACTGCGAGGTAGATG	0.617																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10759-10761)tcG>tcA		zinc finger homeobox 3							234.0	184.0	201.0					16																	72821414		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821414C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10761G>A	16.37:g.72821414C>T						ZFHX3_ENST00000397992.5_Silent_p.S2673S	p.S3587S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11433	-		Ovarian(137;0.13)	3587					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10761G>A	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		37	799	0	0	0	1	0	37	799				
PVR	5817	broad.mit.edu	37	19	45150592	45150592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45150592G>A	ENST00000425690.3	+	2	476	c.177G>A	c.(175-177)acG>acA	p.T59T	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.T59T|PVR_ENST00000403059.4_Silent_p.T59T|PVR_ENST00000344956.4_Silent_p.T59T	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	59	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TGGAGGTGACGCATGTGTCAC	0.647																																						ENST00000425690.3																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(175-177)acG>acA		poliovirus receptor							34.0	28.0	30.0					19																	45150592		2203	4299	6502	SO:0001819	synonymous_variant	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45150592G>A	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.177G>A	19.37:g.45150592G>A						PVR_ENST00000406449.4_Silent_p.T59T|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Silent_p.T59T|PVR_ENST00000344956.4_Silent_p.T59T	p.T59T	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN		Epithelial(262;0.000601)	2	476	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	59			Ig-like V-type.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	ENST00000425690.3	37	c.177G>A	CCDS12640.1																																																																																				0.647	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		17	79	0	0	0	1	0	17	79				
SNX33	257364	broad.mit.edu	37	15	75942572	75942572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942572C>T	ENST00000308527.5	+	1	2326	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	377	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CGTGGAAGATCGCGTGGACAC	0.592																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1129-1131)Cgc>Tgc		sorting nexin 33							73.0	67.0	69.0					15																	75942572		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942572C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1129C>T	15.37:g.75942572C>T	ENSP00000311427:p.Arg377Cys						p.R377C	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	2326	+			377			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1129C>T	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813202	0.32053	.	.	ENSG00000173548	ENST00000308527	T	0.50548	0.74	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.65899	-0.6056	10	0.87932	D	0	-10.5611	13.3236	0.60447	0.1579:0.8421:0.0:0.0	.	377;377	B1NM17;Q8WV41	.;SNX33_HUMAN	C	377	ENSP00000311427:R377C	ENSP00000311427:R377C	R	+	1	0	SNX33	73729627	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.002000	0.49496	2.586000	0.87340	0.561000	0.74099	CGC		0.592	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		73	280	0	0	0	1	0	73	280				
ITGA8	8516	broad.mit.edu	37	10	15697376	15697376	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15697376G>A	ENST00000378076.3	-	11	1331	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	326					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATCTGATACGACAACGGTAT	0.318																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(976-978)gtC>gtT		integrin, alpha 8							156.0	146.0	149.0					10																	15697376		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15697376G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.978C>T	10.37:g.15697376G>A							p.V326V	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			11	1331	-			326					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.978C>T	CCDS31155.1																																																																																				0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		71	357	0	0	0	1	0	71	357				
DRC1	92749	broad.mit.edu	37	2	26667147	26667147	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26667147T>C	ENST00000288710.2	+	9	1160	c.1086T>C	c.(1084-1086)ttT>ttC	p.F362F	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	362					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TAAAGCAGTTTCAGGAGGAGA	0.418																																						ENST00000288710.2																			0											c.(1084-1086)ttT>ttC		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							113.0	101.0	105.0					2																	26667147		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26667147T>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1086T>C	2.37:g.26667147T>C						DRC1_ENST00000483675.1_3'UTR	p.F362F	NM_145038.2	NP_659475.2					9	1160	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1086T>C	CCDS1723.1																																																																																				0.418	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		14	307	0	0	0	1	0	14	307				
ADAM19	8728	broad.mit.edu	37	5	156908832	156908832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156908832C>A	ENST00000517905.1	-	22	2714	c.2670G>T	c.(2668-2670)caG>caT	p.Q890H	ADAM19_ENST00000257527.4_Missense_Mutation_p.Q890H|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H|ADAM19_ENST00000430702.2_Intron			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	890					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCGGGACTGCTGAGGGCCAG	0.687																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2668-2670)caG>caT		ADAM metallopeptidase domain 19							13.0	14.0	14.0					5																	156908832		2196	4295	6491	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156908832C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2670G>T	5.37:g.156908832C>A	ENSP00000428654:p.Gln890His					ADAM19_ENST00000517905.1_Missense_Mutation_p.Q890H|ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H	p.Q890H	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		22	2748	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	890					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2670G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.939|8.939	0.965465|0.965465	0.18583|0.18583	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T|.	0.01538|.	4.8;4.82;4.79|.	5.51|5.51	0.583|0.583	0.17417|0.17417	.|.	0.734758|.	0.12449|.	N|.	0.467961|.	T|T	0.23171|0.23171	0.0560|0.0560	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.28512|.	0.115;0.214|.	B;B|.	0.35688|.	0.208;0.135|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.38643|.	T|.	0.18|.	.|.	3.4723|3.4723	0.07571|0.07571	0.2793:0.3996:0.0:0.321|0.2793:0.3996:0.0:0.321	.|.	890;890|.	Q9H013-2;Q9H013|.	.;ADA19_HUMAN|.	H|I	890;892;890|461	ENSP00000257527:Q890H;ENSP00000377588:Q892H;ENSP00000428654:Q890H|.	ENSP00000257527:Q890H|.	Q|S	-|-	3|2	2|0	ADAM19|ADAM19	156841410|156841410	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.150000|-0.150000	0.10189|0.10189	-0.189000|-0.189000	0.10482|0.10482	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.687	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		13	39	1	0	2.27111e-07	1	2.35674e-07	13	39				
ABCB6	10058	broad.mit.edu	37	2	220075733	220075733	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220075733A>G	ENST00000265316.3	-	15	2382	c.2066T>C	c.(2065-2067)gTc>gCc	p.V689A	ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	689	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCTGTGACACGGCCGTA	0.542																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(2065-2067)gTc>gCc		ATP-binding cassette, sub-family B (MDR/TAP), member 6							90.0	81.0	84.0					2																	220075733		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220075733A>G	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2066T>C	2.37:g.220075733A>G	ENSP00000265316:p.Val689Ala					ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	p.V689A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2382	-		Renal(207;0.0474)	689			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.2066T>C	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.14|14.14	2.447439|2.447439	0.43429|0.43429	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.90261	.|-2.64;-2.64	4.7|4.7	3.54|3.54	0.40534|0.40534	.|ATPase, AAA+ type, core (1);ABC transporter-like (2);	.|0.266329	.|0.37530	.|N	.|0.002060	T|T	0.78220|0.78220	0.4249|0.4249	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.18263	.|0.007;0.021	T|T	0.67818|0.67818	-0.5572|-0.5572	5|10	.|0.15066	.|T	.|0.55	-7.5861|-7.5861	10.1721|10.1721	0.42915|0.42915	0.92:0.0:0.08:0.0|0.92:0.0:0.08:0.0	.|.	.|643;689	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	P|A	537|689;643	.|ENSP00000265316:V689A;ENSP00000394333:V643A	.|ENSP00000265316:V689A	S|V	-|-	1|2	0|0	ABCB6|ABCB6	219783977|219783977	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.876000|0.876000	0.50452|0.50452	4.887000|4.887000	0.63156|0.63156	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.542	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		54	331	0	0	0	1	0	54	331				
WTIP	126374	broad.mit.edu	37	19	34991053	34991053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34991053G>T	ENST00000590071.2	+	8	1509	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	391	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGCAGCTGAGCGGGGAGGAG	0.677																																						ENST00000590071.2																			0				NS(1)|large_intestine(2)|lung(1)	4						c.(1171-1173)aGc>aTc		Wilms tumor 1 interacting protein							30.0	37.0	35.0					19																	34991053		2143	4242	6385	SO:0001583	missense	126374							g.chr19:34991053G>T	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.1172G>T	19.37:g.34991053G>T	ENSP00000466953:p.Ser391Ile					WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	p.S391I	NM_001080436.1	NP_001073905.1			LUSC - Lung squamous cell carcinoma(66;0.211)		8	1509	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Missense_Mutation	SNP	ENST00000590071.2	37	c.1172G>T	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275618	0.59649	.	.	ENSG00000142279	ENST00000270288	D	0.87966	-2.32	4.35	3.04	0.35103	Zinc finger, LIM-type (4);	0.180578	0.50627	D	0.000107	D	0.91068	0.7189	M	0.85373	2.75	0.35499	D	0.799668	D	0.61697	0.99	D	0.63877	0.919	D	0.91846	0.5487	10	0.72032	D	0.01	.	3.9293	0.09278	0.3703:0.0:0.6297:0.0	.	615	A6NIX2	WTIP_HUMAN	I	615	ENSP00000270288:S615I	ENSP00000270288:S615I	S	+	2	0	WTIP	39682893	1.000000	0.71417	0.995000	0.50966	0.570000	0.35934	3.870000	0.56070	2.101000	0.63845	0.305000	0.20034	AGC		0.677	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		24	141	1	0	7.01153e-11	1	7.45501e-11	24	141				
PGK1	5230	broad.mit.edu	37	X	77369650	77369650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369650G>A	ENST00000373316.4	+	4	577	c.410G>A	c.(409-411)gGg>gAg	p.G137E	PGK1_ENST00000537456.1_Missense_Mutation_p.G109E|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	137					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GATGCTTCTGGGAACAAGGTA	0.483																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(409-411)gGg>gAg		phosphoglycerate kinase 1							135.0	144.0	141.0					X																	77369650		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369650G>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.410G>A	X.37:g.77369650G>A	ENSP00000362413:p.Gly137Glu					PGK1_ENST00000537456.1_Missense_Mutation_p.G109E|PGK1_ENST00000442431.1_Intron	p.G137E	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			4	577	+			137					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.410G>A	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.659388	0.88154	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.92495	-3.05;-3.05	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	N	0.01874	-0.695	0.80722	D	1	P	0.51653	0.947	P	0.57204	0.815	D	0.92061	0.5656	10	0.72032	D	0.01	-11.2942	16.5542	0.84481	0.0:0.0:1.0:0.0	.	137	P00558	PGK1_HUMAN	E	137;109	ENSP00000362413:G137E;ENSP00000444708:G109E	ENSP00000362413:G137E	G	+	2	0	PGK1	77256306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.197000	0.70478	0.591000	0.81541	GGG		0.483	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			164	664	0	0	0	1	0	164	664				
EZH2	2146	broad.mit.edu	37	7	148524275	148524275	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148524275C>A	ENST00000460911.1	-	7	797	c.709G>T	c.(709-711)Gca>Tca	p.A237S	EZH2_ENST00000536783.1_Missense_Mutation_p.A128S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000320356.2_Missense_Mutation_p.A237S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	237	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGTTCTTCTGCTGTGCCCTTA	0.368			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(709-711)Gca>Tca		enhancer of zeste homolog 2 (Drosophila)							168.0	162.0	164.0					7																	148524275		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148524275C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.709G>T	7.37:g.148524275C>A	ENSP00000419711:p.Ala237Ser					EZH2_ENST00000460911.1_Missense_Mutation_p.A237S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000536783.1_Missense_Mutation_p.A128S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S	p.A237S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		7	830	-	Melanoma(164;0.15)		237			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.709G>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.685787	0.29962	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.93712	-3.24;-3.27;-3.27;-3.27;-3.24;-3.24;-3.27;0.97	5.6	4.68	0.58851	SANT domain, DNA binding (1);	0.338513	0.34580	N	0.003859	D	0.83519	0.5272	N	0.04636	-0.2	0.31822	N	0.62585	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.09377	0.004;0.002;0.002;0.001;0.002;0.001	T	0.79035	-0.1968	10	0.24483	T	0.36	.	13.5966	0.61994	0.2792:0.7208:0.0:0.0	.	237;228;228;237;198;237	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	S	228;237;237;198;228;228;228;128	ENSP00000417062:A228S;ENSP00000320147:A237S;ENSP00000419711:A237S;ENSP00000223193:A198S;ENSP00000443219:A228S;ENSP00000419050:A228S;ENSP00000419856:A228S;ENSP00000439305:A128S	ENSP00000320147:A237S	A	-	1	0	EZH2	148155208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.138000	0.31491	2.632000	0.89209	0.650000	0.86243	GCA		0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		56	682	1	0	2.23044e-30	1	2.6157e-30	56	682				
SETX	23064	broad.mit.edu	37	9	135203375	135203375	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203375T>G	ENST00000224140.5	-	10	3792	c.3610A>C	c.(3610-3612)Agg>Cgg	p.R1204R	SETX_ENST00000372169.2_Silent_p.R1204R|SETX_ENST00000393220.1_Silent_p.R1204R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1204					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTGAAGTCCTTCTATCAATA	0.403																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3610-3612)Agg>Cgg		senataxin							96.0	94.0	95.0					9																	135203375		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203375T>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3610A>C	9.37:g.135203375T>G						SETX_ENST00000224140.5_Silent_p.R1204R|SETX_ENST00000393220.1_Silent_p.R1204R	p.R1204R			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3792	-		Myeloproliferative disorder(178;0.204)	1204					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.3610A>C	CCDS6947.1																																																																																				0.403	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		90	406	0	0	0	1	0	90	406				
NPFF	8620	broad.mit.edu	37	12	53898552	53898552	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53898552G>A	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Missense_Mutation_p.R168H|TARBP2_ENST00000266987.2_Missense_Mutation_p.R189H|TARBP2_ENST00000394357.2_Missense_Mutation_p.R168H|TARBP2_ENST00000552857.1_Missense_Mutation_p.R98H	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CCAGCCCACCGCAAAGAATTC	0.587																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(565-567)cGc>cAc		TAR (HIV-1) RNA binding protein 2							78.0	78.0	78.0					12																	53898552		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898552G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898552G>A						TARBP2_ENST00000456234.2_Missense_Mutation_p.R168H|TARBP2_ENST00000552857.1_Missense_Mutation_p.R98H|TARBP2_ENST00000394357.2_Missense_Mutation_p.R168H	p.R189H	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			6	1049	+			189			DRBM 2.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.566G>A	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670256	0.88348	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000552857;ENST00000394357;ENST00000550407	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.9	4.9	0.64082	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	N	0.17674	0.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.83445	0.0045	10	0.66056	D	0.02	-28.2955	17.3565	0.87337	0.0:0.0:1.0:0.0	.	189;189	A8K3X2;Q15633	.;TRBP2_HUMAN	H	189;168;98;168;90	ENSP00000266987:R189H;ENSP00000416077:R168H;ENSP00000449537:R98H;ENSP00000377885:R168H	ENSP00000266987:R189H	R	+	2	0	TARBP2	52184819	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.175000	0.71949	2.717000	0.92951	0.491000	0.48974	CGC		0.587	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		74	294	0	0	0	1	0	74	294				
KIRREL2	84063	broad.mit.edu	37	19	36349719	36349719	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36349719C>T	ENST00000360202.5	+	4	673	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	KIRREL2_ENST00000262625.7_Silent_p.L159L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.L109L|KIRREL2_ENST00000592409.1_Silent_p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	159	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGAATTGCTGTGGTTCCG	0.597																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(475-477)Ctg>Ttg		kin of IRRE like 2 (Drosophila)							107.0	103.0	104.0					19																	36349719		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36349719C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.475C>T	19.37:g.36349719C>T						KIRREL2_ENST00000586102.2_Silent_p.L159L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.L159L|KIRREL2_ENST00000347900.6_Silent_p.L109L|KIRREL2_ENST00000262625.7_Silent_p.L159L	p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	673	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		159			Ig-like C2-type 2.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.475C>T	CCDS12481.1																																																																																				0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		108	479	0	0	0	1	0	108	479				
USP6	9098	broad.mit.edu	37	17	5040979	5040979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5040979G>A	ENST00000574788.1	+	20	3089	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	USP6_ENST00000332776.4_Missense_Mutation_p.V287M|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V287M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	287	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTGTGGGACGTGTATTTGGT	0.587			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(859-861)Gtg>Atg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							229.0	214.0	219.0					17																	5040979		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5040979G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.859G>A	17.37:g.5040979G>A	ENSP00000460380:p.Val287Met					USP6_ENST00000332776.4_Missense_Mutation_p.V287M|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V287M	p.V287M			P35125	UBP6_HUMAN			20	3089	+			287			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.859G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598163	0.46318	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.43294	0.95;0.95	.	.	.	Rab-GAP/TBC domain (4);	1.338740	0.04428	N	0.368799	T	0.42585	0.1209	L	0.46670	1.46	0.80722	D	1	D	0.63046	0.992	P	0.46275	0.51	T	0.47497	-0.9113	8	0.87932	D	0	.	.	.	.	.	287	P35125	UBP6_HUMAN	M	287	ENSP00000328010:V287M;ENSP00000250066:V287M	ENSP00000250066:V287M	V	+	1	0	USP6	4981703	1.000000	0.71417	0.269000	0.24586	0.272000	0.26649	1.918000	0.40006	0.119000	0.18210	0.121000	0.15741	GTG		0.587	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		170	877	0	0	0	1	0	170	877				
MRPL1	65008	broad.mit.edu	37	4	78808417	78808417	+	Missense_Mutation	SNP	T	T	C	rs17855456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78808417T>C	ENST00000315567.8	+	5	859	c.530T>C	c.(529-531)tTt>tCt	p.F177S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	177			F -> S (in dbSNP:rs17855456). {ECO:0000269|PubMed:15489334}.		translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GGAGCTGCATTTGCAGGAGGC	0.328																																						ENST00000315567.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(529-531)tTt>tCt		mitochondrial ribosomal protein L1							126.0	124.0	125.0					4																	78808417		2203	4300	6503	SO:0001583	missense	65008						RNA binding	g.chr4:78808417T>C	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.530T>C	4.37:g.78808417T>C	ENSP00000315017:p.Phe177Ser					MRPL1_ENST00000506674.1_3'UTR	p.F177S	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			5	859	+			177		F -> S (in dbSNP:rs17855456).			A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.530T>C	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123426	0.77436	.	.	ENSG00000169288	ENST00000315567;ENST00000538314	T	0.44881	0.91	5.96	3.51	0.40186	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.356101	0.33670	N	0.004665	T	0.48624	0.1510	M	0.74881	2.28	0.36811	D	0.885884	P;P	0.46457	0.673;0.878	B;P	0.49683	0.393;0.619	T	0.54957	-0.8215	10	0.59425	D	0.04	-11.0467	6.1015	0.20049	0.1439:0.0769:0.0:0.7792	rs17855456;rs17855456	155;177	A0PJ79;Q9BYD6	.;RM01_HUMAN	S	177;155	ENSP00000315017:F177S	ENSP00000315017:F177S	F	+	2	0	MRPL1	79027441	1.000000	0.71417	0.875000	0.34327	0.978000	0.69477	4.046000	0.57376	0.498000	0.27948	0.528000	0.53228	TTT		0.328	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		61	294	0	0	0	1	0	61	294				
TULP4	56995	broad.mit.edu	37	6	158923474	158923474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158923474C>T	ENST00000367097.3	+	13	4136	c.2779C>T	c.(2779-2781)Ctc>Ttc	p.L927F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	927					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTTGAGGCTCACGGCCAC	0.687																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2779-2781)Ctc>Ttc		tubby like protein 4							61.0	65.0	64.0					6																	158923474		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923474C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2779C>T	6.37:g.158923474C>T	ENSP00000356064:p.Leu927Phe					TULP4_ENST00000367094.2_Intron	p.L927F	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4136	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	927					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2779C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999019	0.35226	.	.	ENSG00000130338	ENST00000367097	T	0.63255	-0.03	4.82	2.89	0.33648	.	0.189697	0.46758	D	0.000263	T	0.34571	0.0902	L	0.40543	1.245	0.80722	D	1	P	0.35383	0.498	B	0.33620	0.167	T	0.42050	-0.9474	10	0.87932	D	0	-24.6158	8.4255	0.32727	0.3675:0.4241:0.2084:0.0	.	927	Q9NRJ4	TULP4_HUMAN	F	927	ENSP00000356064:L927F	ENSP00000356064:L927F	L	+	1	0	TULP4	158843462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.231000	0.43009	1.140000	0.42260	0.561000	0.74099	CTC		0.687	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		83	404	0	0	0	1	0	83	404				
CNTNAP2	26047	broad.mit.edu	37	7	147844744	147844744	+	Missense_Mutation	SNP	C	C	T	rs141617212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147844744C>T	ENST00000361727.3	+	17	3232	c.2716C>T	c.(2716-2718)Cgc>Tgc	p.R906C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	906	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> H. {ECO:0000269|PubMed:18179895}.		adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAGCAGATCCGCAAGGCCCC	0.562										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2716-2718)Cgc>Tgc		contactin associated protein-like 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	68.0	69.0		2716	5.5	1.0	7	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	906/1332	147844744	2,13004	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147844744C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2716C>T	7.37:g.147844744C>T	ENSP00000354778:p.Arg906Cys	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_5'UTR	p.R906C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		17	3232	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	906		R -> H.	Laminin G-like 3.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2716C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566564	0.86439	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91397	0.5140	10	0.56958	D	0.05	.	17.9875	0.89159	0.0:1.0:0.0:0.0	.	906	Q9UHC6	CNTP2_HUMAN	C	906	ENSP00000354778:R906C	ENSP00000354778:R906C	R	+	1	0	CNTNAP2	147475677	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	2.369000	0.44231	2.583000	0.87209	0.561000	0.74099	CGC		0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			77	371	0	0	0	1	0	77	371				
TOP2B	7155	broad.mit.edu	37	3	25660243	25660243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25660243C>T	ENST00000264331.4	-	24	3160	c.3161G>A	c.(3160-3162)cGt>cAt	p.R1054H	TOP2B_ENST00000475717.1_5'Flank|TOP2B_ENST00000542520.1_5'UTR|TOP2B_ENST00000435706.2_Missense_Mutation_p.R1049H|TOP2B_ENST00000540199.1_5'Flank	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1054					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCACTCCTTACGTAAACCGTA	0.353																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(3145-3147)cGt>cAt		topoisomerase (DNA) II beta 180kDa							55.0	53.0	53.0					3																	25660243		1835	4083	5918	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25660243C>T	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.3161G>A	3.37:g.25660243C>T	ENSP00000264331:p.Arg1054His					TOP2B_ENST00000264331.4_Missense_Mutation_p.R1054H|TOP2B_ENST00000542520.1_5'UTR	p.R1049H			Q02880	TOP2B_HUMAN			24	3347	-			1054					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.3146G>A		.	.	.	.	.	.	.	.	.	.	C	28.1	4.890974	0.91889	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.68903	-0.36;-0.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90894	0.4763	10	0.87932	D	0	-0.216	20.038	0.97570	0.0:1.0:0.0:0.0	.	1049	Q02880-2	.	H	1049;1054;1049	ENSP00000396704:R1049H;ENSP00000264331:R1054H	ENSP00000264331:R1054H	R	-	2	0	TOP2B	25635247	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.737000	0.93849	0.557000	0.71058	CGT		0.353	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				31	99	0	0	0	1	0	31	99				
SYNJ2	8871	broad.mit.edu	37	6	158495692	158495692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158495692C>T	ENST00000355585.4	+	16	2289	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SYNJ2_ENST00000367122.2_Silent_p.V738V|SYNJ2_ENST00000367121.3_Silent_p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	738					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGAAGAAGTCTTCTATTTTG	0.333																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2212-2214)gtC>gtT		synaptojanin 2							111.0	104.0	106.0					6																	158495692		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158495692C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2214C>T	6.37:g.158495692C>T						SYNJ2_ENST00000367121.3_Silent_p.V738V|SYNJ2_ENST00000367122.2_Silent_p.V738V	p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	16	2289	+			738					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.2214C>T	CCDS5254.1																																																																																				0.333	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			100	327	0	0	0	1	0	100	327				
HID1	283987	broad.mit.edu	37	17	72956031	72956031	+	Splice_Site	SNP	G	G	A	rs144555805	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72956031G>A	ENST00000425042.2	-	8	1030	c.953C>T	c.(952-954)cCt>cTt	p.P318L	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	318					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGGGCCTGGAGGCTGCCAAGA	0.622																																						ENST00000425042.2																			0											c.e8-1		HID1 domain containing		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	94.0	88.0	90.0		953	5.0	1.0	17	dbSNP_134	90	6,8594	5.0+/-18.6	0,6,4294	yes	missense-near-splice	C17orf28	NM_030630.2	98	0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615	benign	318/789	72956031	8,12998	2203	4300	6503	SO:0001630	splice_region_variant	283987							g.chr17:72956031G>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.952-1C>T	17.37:g.72956031G>A							p.P318_splice	NM_030630.2	NP_085133.1					8	1030	-								Q8N5L6|Q8TE83|Q9NT34	Splice_Site	SNP	ENST00000425042.2	37	c.951_splice	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761941	0.49468	4.54E-4	6.98E-4	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565;ENST00000530857	.	.	.	5.0	5.0	0.66597	.	0.280366	0.36034	N	0.002829	T	0.54159	0.1841	L	0.38531	1.155	0.58432	D	0.999997	B;B	0.23806	0.074;0.091	B;B	0.33121	0.098;0.158	T	0.48843	-0.8999	9	0.19147	T	0.46	-8.3614	13.6343	0.62213	0.0:0.1556:0.8444:0.0	.	317;318	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	L	90;318;90;210	.	ENSP00000317795:P90L	P	-	2	0	C17orf28	70467626	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	6.366000	0.73095	2.291000	0.77112	0.561000	0.74099	CCT		0.622	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	Missense_Mutation	104	500	0	0	0	1	0	104	500				
DCSTAMP	81501	broad.mit.edu	37	8	105367128	105367128	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105367128C>T	ENST00000297581.2	+	3	1102	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	351					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAGATATTATCCATGATTCTT	0.348																																						ENST00000297581.2																			0											c.(1051-1053)atC>atT		dendrocyte expressed seven transmembrane protein							70.0	68.0	69.0					8																	105367128		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367128C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1053C>T	8.37:g.105367128C>T						DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	p.I351I	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1102	+			351					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1053C>T	CCDS6301.1																																																																																				0.348	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		40	165	0	0	0	1	0	40	165				
MC3R	4159	broad.mit.edu	37	20	54824796	54824796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824796C>T	ENST00000243911.2	+	1	1009	c.897C>T	c.(895-897)taC>taT	p.Y299Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	299					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CACTCATCTACGCTTTCCGGA	0.537																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(895-897)taC>taT		melanocortin 3 receptor							188.0	175.0	179.0					20																	54824796		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824796C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.897C>T	20.37:g.54824796C>T							p.Y299Y	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	1009	+			336					Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.897C>T	CCDS13449.2																																																																																				0.537	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			24	940	0	0	0	1	0	24	940				
PLA2G15	23659	broad.mit.edu	37	16	68293398	68293398	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68293398C>T	ENST00000219345.5	+	6	1160	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	PLA2G15_ENST00000413021.2_Silent_p.G265G|PLA2G15_ENST00000444212.2_Silent_p.G159G|RP11-96D1.7_ENST00000563175.1_RNA|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	359					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGGTGACGGCGATGGTACTG	0.587																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(1075-1077)ggC>ggT		phospholipase A2, group XV							81.0	74.0	77.0					16																	68293398		2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293398C>T	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.1077C>T	16.37:g.68293398C>T						RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Silent_p.G159G|PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000413021.2_Silent_p.G265G	p.G359G	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			6	1160	+			359					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	c.1077C>T	CCDS10864.1																																																																																				0.587	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		63	311	0	0	0	1	0	63	311				
ARID4B	51742	broad.mit.edu	37	1	235377308	235377308	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235377308A>G	ENST00000264183.3	-	17	2114	c.1617T>C	c.(1615-1617)gaT>gaC	p.D539D	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Silent_p.D539D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	539	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ctgcttcttcatcatcttcat	0.383																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1615-1617)gaT>gaC		AT rich interactive domain 4B (RBP1-like)							124.0	117.0	119.0					1																	235377308		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377308A>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1617T>C	1.37:g.235377308A>G						ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Silent_p.D539D	p.D539D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2114	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	539			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.1617T>C	CCDS31061.1																																																																																				0.383	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		11	357	0	0	0	1	0	11	357				
GRM2	2912	broad.mit.edu	37	3	51743024	51743024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743024G>A	ENST00000395052.3	+	2	259	c.25G>A	c.(25-27)Gca>Aca	p.A9T	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A9T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	9					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCGCTCCTGGCACTGCTGCT	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(25-27)Gca>Aca		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						36.0	40.0	39.0					3																	51743024		2201	4300	6501	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743024G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.25G>A	3.37:g.51743024G>A	ENSP00000378492:p.Ala9Thr					GRM2_ENST00000442933.2_Missense_Mutation_p.A9T|GRM2_ENST00000475478.1_Intron	p.A9T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	259	+			9					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.25G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	9.794	1.178770	0.21787	.	.	ENSG00000164082	ENST00000395052;ENST00000419928;ENST00000442933	D;D;D	0.94232	-2.44;-3.38;-2.54	4.98	1.85	0.25348	.	0.572387	0.10090	U	0.717260	D	0.84424	0.5469	N	0.19112	0.55	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.70428	-0.4874	10	0.22109	T	0.4	.	3.3242	0.07061	0.1657:0.2389:0.4812:0.1143	.	9	Q14416	GRM2_HUMAN	T	9	ENSP00000378492:A9T;ENSP00000404797:A9T;ENSP00000408906:A9T	ENSP00000296479:A9T	A	+	1	0	GRM2	51718064	0.168000	0.22989	0.928000	0.36995	0.922000	0.55478	0.356000	0.20181	0.622000	0.30249	-0.310000	0.09108	GCA		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			38	136	0	0	0	1	0	38	136				
EFCAB5	374786	broad.mit.edu	37	17	28380972	28380972	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380972T>C	ENST00000394835.3	+	10	2192	c.2000T>C	c.(1999-2001)aTa>aCa	p.I667T	EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T|EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	667							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGAAGACATAGGCTCAACT	0.378																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1999-2001)aTa>aCa		EF-hand calcium binding domain 5							89.0	80.0	83.0					17																	28380972		1858	4108	5966	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380972T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2000T>C	17.37:g.28380972T>C	ENSP00000378312:p.Ile667Thr					EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T	p.I667T	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	2192	+			667					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2000T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	4.950	0.176404	0.09443	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.42513	1.97;0.97;2.97;2.97;2.29;1.97;2.97	5.14	-5.04	0.02964	.	2.425250	0.01699	N	0.027091	T	0.13586	0.0329	N	0.01705	-0.755	0.09310	N	1	B;B;B;B;B;B	0.17268	0.012;0.021;0.001;0.002;0.007;0.001	B;B;B;B;B;B	0.10450	0.004;0.003;0.001;0.002;0.005;0.001	T	0.10894	-1.0610	10	0.11794	T	0.64	3.3471	2.0208	0.03509	0.1158:0.2281:0.3554:0.3007	.	611;611;667;667;667;667	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	T	611;410;324;667;667;667;667;611;473	ENSP00000440619:I611T;ENSP00000445575:I324T;ENSP00000378312:I667T;ENSP00000322003:I667T;ENSP00000378309:I667T;ENSP00000368012:I667T;ENSP00000417009:I473T	ENSP00000322003:I667T	I	+	2	0	EFCAB5	25405098	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.336000	0.01105	-0.899000	0.03901	0.524000	0.50904	ATA		0.378	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		15	176	0	0	0	1	0	15	176				
GNA13	10672	broad.mit.edu	37	17	63010504	63010504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63010504C>T	ENST00000439174.2	-	4	1250	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	GNA13_ENST00000541118.1_Silent_p.R240R	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	335					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTGCTGGTCCCGGCGTTTGT	0.473																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(1003-1005)cgG>cgA		guanine nucleotide binding protein (G protein), alpha 13							131.0	108.0	116.0					17																	63010504		2203	4300	6503	SO:0001819	synonymous_variant	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010504C>T	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.1005G>A	17.37:g.63010504C>T						GNA13_ENST00000541118.1_Silent_p.R240R	p.R335R	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			4	1250	-			335					B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	c.1005G>A	CCDS11661.1																																																																																				0.473	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		44	341	0	0	0	1	0	44	341				
SLC34A3	142680	broad.mit.edu	37	9	140130446	140130446	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140130446C>A	ENST00000538474.1	+	13	1602	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	460					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCATCCTGCTGTGGTACCT	0.697											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1378-1380)Ctg>Atg		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							60.0	57.0	58.0					9																	140130446		2202	4294	6496	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130446C>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1378C>A	9.37:g.140130446C>A	ENSP00000442397:p.Leu460Met		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1602	+	all_cancers(76;0.0926)		460					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1378C>A	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725024	0.48833	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.88277	-2.36;-2.36	4.11	1.11	0.20524	.	0.148979	0.29321	N	0.012482	D	0.90417	0.7000	M	0.74258	2.255	0.28738	N	0.902132	D	0.56287	0.975	P	0.57720	0.826	D	0.84038	0.0363	10	0.87932	D	0	-4.6612	4.7646	0.13127	0.1719:0.6313:0.0:0.1968	.	460	Q8N130	NPT2C_HUMAN	M	460	ENSP00000442397:L460M;ENSP00000355353:L460M	ENSP00000355353:L460M	L	+	1	2	SLC34A3	139250267	0.990000	0.36364	0.886000	0.34754	0.730000	0.41778	0.730000	0.26043	0.124000	0.18369	0.407000	0.27541	CTG		0.697	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		91	452	1	0	7.62712e-44	1	9.32224e-44	91	452				
PCDHAC1	56135	broad.mit.edu	37	5	140307056	140307056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140307056C>T	ENST00000253807.2	+	1	579	c.579C>T	c.(577-579)cgC>cgT	p.R193R	PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGATCGCGAACAGCGCG	0.612																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(577-579)cgC>cgT									45.0	49.0	47.0					5																	140307056		2202	4300	6502	SO:0001819	synonymous_variant	0							g.chr5:140307056C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.579C>T	5.37:g.140307056C>T						PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.R193R	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	579	+								Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	c.579C>T	CCDS4241.1																																																																																				0.612	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		13	358	0	0	0	1	0	13	358				
KCTD8	386617	broad.mit.edu	37	4	44449580	44449580	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44449580G>A	ENST00000360029.3	-	1	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	321					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCGAACTTACGGAAGAAAATG	0.662										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.e1+1		potassium channel tetramerization domain containing 8							19.0	17.0	17.0					4																	44449580		2198	4300	6498	SO:0001630	splice_region_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449580G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.961+1C>T	4.37:g.44449580G>A		HNSCC(17;0.042)					p.R321_splice	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	1244	-			321					A2RU39	Splice_Site	SNP	ENST00000360029.3	37	c.961_splice	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	40	8.116172	0.98662	.	.	ENSG00000183783	ENST00000360029	.	.	.	4.27	3.33	0.38152	.	0.146450	0.42682	D	0.000664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2831	0.37740	0.0:0.0:0.6078:0.3922	.	.	.	.	X	321	.	.	R	-	1	2	KCTD8	44144337	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.944000	0.40263	2.214000	0.71695	0.591000	0.81541	CGA		0.662	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1		Nonsense_Mutation	20	84	0	0	0	1	0	20	84				
SNX2	6643	broad.mit.edu	37	5	122152613	122152613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122152613C>T	ENST00000379516.2	+	9	910	c.802C>T	c.(802-804)Cct>Tct	p.P268S	SNX2_ENST00000514949.1_Missense_Mutation_p.P151S|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	268	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		ATTCCAGCTGCCTAGAGCAGT	0.488																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(802-804)Cct>Tct		sorting nexin 2							48.0	47.0	47.0					5																	122152613		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122152613C>T	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.802C>T	5.37:g.122152613C>T	ENSP00000368831:p.Pro268Ser					SNX2_ENST00000514949.1_Missense_Mutation_p.P151S|SNX2_ENST00000510372.1_3'UTR	p.P268S	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	9	910	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	268			PX.		B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.802C>T	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532860	0.85812	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.22945	2.0;1.93	5.93	5.93	0.95920	Phox homologous domain (2);	0.102077	0.64402	D	0.000001	T	0.56016	0.1957	M	0.90252	3.1	0.80722	D	1	P	0.51537	0.946	P	0.55260	0.772	T	0.63761	-0.6564	10	0.87932	D	0	-8.4387	20.3334	0.98727	0.0:1.0:0.0:0.0	.	268	O60749	SNX2_HUMAN	S	268;151	ENSP00000368831:P268S;ENSP00000421663:P151S	ENSP00000368831:P268S	P	+	1	0	SNX2	122180512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.818000	0.97014	0.591000	0.81541	CCT		0.488	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		7	115	0	0	0	1	0	7	115				
NUP153	9972	broad.mit.edu	37	6	17661976	17661976	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17661976C>A	ENST00000262077.2	-	11	1302	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	435					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAACCATTGGCTGCAGGCAAA	0.398																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(1303-1305)Gcc>Tcc		nucleoporin 153kDa							112.0	111.0	111.0					6																	17661976		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17661976C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1303G>T	6.37:g.17661976C>A	ENSP00000262077:p.Ala435Ser					NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	p.A435S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		11	1302	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	435					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1303G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867447	0.32977	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.31769	1.48;1.48	5.62	4.74	0.60224	Nucleoporin, Nup153-like (1);	0.149996	0.31113	N	0.008233	T	0.06690	0.0171	N	0.05414	-0.055	0.41898	D	0.990406	B;B;B	0.21688	0.047;0.059;0.046	B;B;B	0.29353	0.025;0.101;0.031	T	0.22556	-1.0213	10	0.16420	T	0.52	-0.5263	8.1593	0.31190	0.1977:0.7191:0.0:0.0832	.	435;457;435	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	435;457;435	ENSP00000262077:A435S;ENSP00000444029:A435S	ENSP00000262077:A435S	A	-	1	0	NUP153	17769955	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.060000	0.41394	2.809000	0.96659	0.655000	0.94253	GCC		0.398	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			116	517	1	0	7.61515e-48	1	9.38505e-48	116	517				
MYBBP1A	10514	broad.mit.edu	37	17	4455562	4455562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4455562C>T	ENST00000254718.4	-	7	1069	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	255	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGAGGAGGCGGCCATCTTC	0.617																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(763-765)Gcc>Acc		MYB binding protein (P160) 1a							79.0	73.0	75.0					17																	4455562		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4455562C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.763G>A	17.37:g.4455562C>T	ENSP00000254718:p.Ala255Thr					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T	p.A255T			Q9BQG0	MBB1A_HUMAN			7	1069	-			255			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.763G>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.187487	0.57909	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.67345	-0.26;-0.26	5.78	1.52	0.23074	Armadillo-type fold (1);	0.293259	0.37906	N	0.001897	T	0.67505	0.2900	M	0.64997	1.995	0.33679	D	0.611828	D;D	0.60160	0.987;0.984	P;P	0.55161	0.679;0.77	T	0.69698	-0.5075	10	0.30854	T	0.27	-9.8343	5.999	0.19509	0.2503:0.5632:0.1206:0.0659	.	255;255	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	T	255	ENSP00000370968:A255T;ENSP00000254718:A255T	ENSP00000254718:A255T	A	-	1	0	MYBBP1A	4402311	0.892000	0.30473	0.001000	0.08648	0.000000	0.00434	2.404000	0.44539	0.154000	0.19237	-0.829000	0.03081	GCC		0.617	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		59	327	0	0	0	1	0	59	327				
BICD1	636	broad.mit.edu	37	12	32481286	32481286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32481286C>T	ENST00000281474.5	+	5	2000	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	BICD1_ENST00000548411.1_Missense_Mutation_p.R633W	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	633					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCATAATCCGGGACCAAAT	0.483																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1897-1899)Cgg>Tgg		bicaudal D homolog 1 (Drosophila)							141.0	142.0	142.0					12																	32481286		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32481286C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1897C>T	12.37:g.32481286C>T	ENSP00000281474:p.Arg633Trp					BICD1_ENST00000281474.5_Missense_Mutation_p.R633W	p.R633W	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	2078	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		633					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1897C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921531	0.52653	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.53640	0.61;0.61	5.2	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.973;0.991	T	0.78033	-0.2362	10	0.87932	D	0	.	14.9211	0.70838	0.233:0.767:0.0:0.0	.	633;633	F8W113;Q96G01	.;BICD1_HUMAN	W	633	ENSP00000446793:R633W;ENSP00000281474:R633W	ENSP00000281474:R633W	R	+	1	2	BICD1	32372553	0.937000	0.31787	1.000000	0.80357	0.991000	0.79684	0.460000	0.21924	2.415000	0.81967	0.655000	0.94253	CGG		0.483	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		120	494	0	0	0	1	0	120	494				
KIAA1522	57648	broad.mit.edu	37	1	33233558	33233558	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33233558G>T	ENST00000373480.1	+	2	332	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KIAA1522_ENST00000401073.2_Splice_Site_p.E136*|KIAA1522_ENST00000294521.3_Splice_Site_p.E77*|KIAA1522_ENST00000373481.3_Splice_Site_p.E88*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	77										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAACACCAAGGTAAGCTtcc	0.612																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.e2+1		KIAA1522							60.0	66.0	64.0					1																	33233558		2005	4167	6172	SO:0001630	splice_region_variant	57648							g.chr1:33233558G>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.229+1G>T	1.37:g.33233558G>T						KIAA1522_ENST00000373481.3_Splice_Site_p.E88_splice|KIAA1522_ENST00000373480.1_Splice_Site_p.E77_splice|KIAA1522_ENST00000294521.3_Splice_Site_p.E77_splice	p.E136_splice	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	476	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	77					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Splice_Site	SNP	ENST00000373480.1	37	c.406_splice	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826624	0.71143	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	.	.	.	5.03	4.12	0.48240	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.3583	13.3902	0.60821	0.0776:0.0:0.9224:0.0	.	.	.	.	X	136;88;77;77	.	ENSP00000294521:E77X	E	+	1	0	KIAA1522	33006145	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.778000	0.91785	1.269000	0.44280	0.462000	0.41574	GAG		0.612	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1		Nonsense_Mutation	20	383	1	0	5.03518e-11	1	5.3609e-11	20	383				
MED13	9969	broad.mit.edu	37	17	60028352	60028352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60028352C>T	ENST00000397786.2	-	28	6201	c.6125G>A	c.(6124-6126)aGt>aAt	p.S2042N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2042					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCGATCAGTACTCTGACCCTT	0.378																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6124-6126)aGt>aAt		mediator complex subunit 13							95.0	85.0	88.0					17																	60028352		1881	4129	6010	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60028352C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6125G>A	17.37:g.60028352C>T	ENSP00000380888:p.Ser2042Asn						p.S2042N	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			28	6201	-			2042					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.6125G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781751	0.16120	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	6.04	6.04	0.98038	.	0.086896	0.85682	D	0.000000	T	0.78413	0.4279	L	0.43152	1.355	0.40256	D	0.978125	B	0.02656	0.0	B	0.08055	0.003	T	0.72567	-0.4254	10	0.10111	T	0.7	-14.3882	20.5792	0.99380	0.0:1.0:0.0:0.0	.	2042	Q9UHV7	MED13_HUMAN	N	2042;2041	ENSP00000380888:S2042N	ENSP00000262436:S2041N	S	-	2	0	MED13	57383134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.735000	0.68587	2.873000	0.98535	0.561000	0.74099	AGT		0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		54	267	0	0	0	1	0	54	267				
BAZ2B	29994	broad.mit.edu	37	2	160295624	160295624	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160295624C>A	ENST00000392783.2	-	7	1291	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tctAGATCATCTGAATCACTG	0.373																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(796-798)Gat>Tat		bromodomain adjacent to zinc finger domain, 2B							308.0	274.0	285.0					2																	160295624		1932	4144	6076	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295624C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.796G>T	2.37:g.160295624C>A	ENSP00000376534:p.Asp266Tyr					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y	p.D266Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			7	1291	-			266					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.796G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548459	0.65311	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.51	5.51	0.81932	.	0.000000	0.38164	U	0.001791	T	0.29355	0.0731	M	0.62723	1.935	0.58432	D	0.999997	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	0.87578	0.998;0.998;0.998;0.982;0.982;0.96	T	0.00638	-1.1632	10	0.87932	D	0	-16.055	19.4202	0.94719	0.0:1.0:0.0:0.0	.	264;203;266;264;264;266	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Y	264;266;266;264;203	ENSP00000376533:D264Y;ENSP00000376534:D266Y;ENSP00000348087:D266Y;ENSP00000339670:D264Y	ENSP00000339670:D264Y	D	-	1	0	BAZ2B	160003870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.558000	0.86282	0.563000	0.77884	GAT		0.373	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			120	602	1	0	3.0332e-58	1	3.802e-58	120	602				
PLCB2	5330	broad.mit.edu	37	15	40584302	40584302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40584302G>T	ENST00000260402.3	-	23	2738	c.2489C>A	c.(2488-2490)tCt>tAt	p.S830Y	PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	830					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGCTTCACAGACTTCGTGTC	0.542																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(2488-2490)tCt>tAt		phospholipase C, beta 2							94.0	100.0	98.0					15																	40584302		2067	4214	6281	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40584302G>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2489C>A	15.37:g.40584302G>T	ENSP00000260402:p.Ser830Tyr					PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	p.S830Y	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	23	2738	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	830					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2489C>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161357	0.57368	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.23950	1.91;1.88	4.71	4.71	0.59529	.	0.370926	0.28784	N	0.014151	T	0.41858	0.1177	L	0.52011	1.625	0.80722	D	1	P;D;P	0.63880	0.911;0.993;0.62	B;P;B	0.62649	0.424;0.905;0.396	T	0.22312	-1.0220	10	0.72032	D	0.01	.	13.5805	0.61901	0.0782:0.0:0.9218:0.0	.	830;826;830	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	Y	830	ENSP00000260402:S830Y;ENSP00000411991:S830Y	ENSP00000260402:S830Y	S	-	2	0	PLCB2	38371594	1.000000	0.71417	0.991000	0.47740	0.410000	0.31052	4.878000	0.63093	2.605000	0.88082	0.491000	0.48974	TCT		0.542	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			76	322	1	0	9.04243e-43	1	1.10195e-42	76	322				
COLEC12	81035	broad.mit.edu	37	18	335154	335154	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335154C>A	ENST00000400256.3	-	6	1611	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	468	Collagen-like 1.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTCTCCTTTCTGTCCCTTGT	0.617																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1402-1404)caG>caT		collectin sub-family member 12							34.0	36.0	35.0					18																	335154		2192	4292	6484	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335154C>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1404G>T	18.37:g.335154C>A	ENSP00000383115:p.Gln468His						p.Q468H	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			6	1611	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	468			Collagen-like 1.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1404G>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175481	0.38413	.	.	ENSG00000158270	ENST00000400256	D	0.86164	-2.08	5.66	3.86	0.44501	.	0.100946	0.64402	D	0.000002	D	0.83797	0.5332	N	0.22421	0.69	0.40914	D	0.984257	D	0.56746	0.977	P	0.59288	0.855	T	0.82448	-0.0452	10	0.46703	T	0.11	-14.5309	4.8189	0.13381	0.1542:0.5913:0.0:0.2545	.	468	Q5KU26	COL12_HUMAN	H	468	ENSP00000383115:Q468H	ENSP00000383115:Q468H	Q	-	3	2	COLEC12	325154	0.277000	0.24220	1.000000	0.80357	0.992000	0.81027	-0.319000	0.08039	1.376000	0.46267	0.655000	0.94253	CAG		0.617	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			65	290	1	0	2.6711e-34	1	3.17551e-34	65	290				
THAP3	90326	broad.mit.edu	37	1	6692877	6692877	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6692877G>T	ENST00000054650.4	+	6	618	c.460G>T	c.(460-462)Gca>Tca	p.A154S	DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.A153S	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	154							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCCGCAAGCAACAGAGGC	0.622																																						ENST00000054650.4																			0				breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(460-462)Gca>Tca		THAP domain containing, apoptosis associated protein 3							91.0	92.0	92.0					1																	6692877		876	1991	2867	SO:0001583	missense	90326						DNA binding|metal ion binding	g.chr1:6692877G>T	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.460G>T	1.37:g.6692877G>T	ENSP00000054650:p.Ala154Ser					THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.A153S	p.A154S	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	618	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	154					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	37	c.460G>T	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413824	0.25465	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.95001	-3.58;-3.58	3.9	2.98	0.34508	.	1.429030	0.05053	N	0.478551	D	0.90539	0.7035	L	0.43152	1.355	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.78181	-0.2304	10	0.13470	T	0.59	-14.5844	7.5838	0.27980	0.1194:0.0:0.8806:0.0	.	153;154	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	S	154;153	ENSP00000054650:A154S;ENSP00000311537:A153S	ENSP00000054650:A154S	A	+	1	0	THAP3	6615464	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	1.455000	0.35190	0.965000	0.38133	0.462000	0.41574	GCA		0.622	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		42	439	1	0	1.8453e-21	1	2.07902e-21	42	439				
ZP4	57829	broad.mit.edu	37	1	238053923	238053923	+	Missense_Mutation	SNP	G	G	A	rs371052672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238053923G>A	ENST00000366570.4	-	1	171	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	5					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.R5W(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAACGCACCGCAGCAGCCAC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17424	0.0		0.0	False		,,,				2504	0.0				NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			1	Substitution - Missense(1)	p.R5W(1)	large_intestine(1)	breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(13-15)Cgg>Tgg		zona pellucida glycoprotein 4		G	TRP/ARG	0,4406		0,0,2203	38.0	38.0	38.0		13	-2.1	0.0	1		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZP4	NM_021186.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	5/541	238053923	1,13005	2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053923G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.13C>T	1.37:g.238053923G>A	ENSP00000355529:p.Arg5Trp					RP11-193H5.1_ENST00000450451.1_RNA	p.R5W	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		1	171	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	5					B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.13C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543054	0.27563	0.0	1.16E-4	ENSG00000116996	ENST00000366570	T	0.75260	-0.92	3.64	-2.11	0.07187	.	2.841300	0.01275	N	0.009565	T	0.53690	0.1812	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46665	-0.9175	10	0.62326	D	0.03	5.1698	4.3134	0.10981	0.4909:0.1788:0.3303:0.0	.	5	Q12836	ZP4_HUMAN	W	5	ENSP00000355529:R5W	ENSP00000355529:R5W	R	-	1	2	ZP4	236120546	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.091000	0.11146	-0.416000	0.07473	0.563000	0.77884	CGG		0.557	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			42	196	0	0	0	1	0	42	196				
CCDC37	348807	broad.mit.edu	37	3	126138556	126138556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138556G>T	ENST00000352312.1	+	9	907	c.808G>T	c.(808-810)Gag>Tag	p.E270*	CCDC37_ENST00000393425.1_Nonsense_Mutation_p.E271*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	270										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTCGCCCAAGGAGTGGCTTGA	0.493																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(811-813)Gag>Tag		coiled-coil domain containing 37							69.0	72.0	71.0					3																	126138556		2203	4300	6503	SO:0001587	stop_gained	348807							g.chr3:126138556G>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.808G>T	3.37:g.126138556G>T	ENSP00000344749:p.Glu270*					CCDC37_ENST00000352312.1_Nonsense_Mutation_p.E270*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*	p.E271*			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	9	910	+			270					D3DNA8|Q494V1|Q494V4|Q8N838	Nonsense_Mutation	SNP	ENST00000352312.1	37	c.811G>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	37	6.350566	0.97498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-30.7575	14.9376	0.70970	0.0:0.0:1.0:0.0	.	.	.	.	X	270;271;271	.	ENSP00000344749:E270X	E	+	1	0	CCDC37	127621246	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.465000	0.90383	2.379000	0.81126	0.467000	0.42956	GAG		0.493	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		15	428	1	0	2.32078e-09	1	2.442e-09	15	428				
CACNA1A	773	broad.mit.edu	37	19	13428040	13428040	+	Missense_Mutation	SNP	G	G	A	rs377011125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13428040G>A	ENST00000360228.5	-	11	1440	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	482					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.R482C(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGACCATGCGGCGGATGTAG	0.512																																						ENST00000360228.5																			3	Substitution - Missense(3)	p.R482C(3)	endometrium(3)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1441-1443)Cgc>Tgc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3990		0,0,1995	73.0	76.0	75.0		1444,1444,1441,1444,1444	4.7	1.0	19		75	1,8317		0,1,4158	no	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	180,180,180,180,180	0,1,6153	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	482/2267,482/2262,481/2507,482/2264,482/2513	13428040	1,12307	1995	4159	6154	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13428040G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1441C>T	19.37:g.13428040G>A	ENSP00000353362:p.Arg481Cys					CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	p.R481C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		11	1440	-			482					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1441C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347420	0.41599	0.0	1.2E-4	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96365	-3.99	5.76	4.73	0.59995	.	0.218239	0.39274	N	0.001415	D	0.98277	0.9429	M	0.89785	3.06	0.47949	D	0.999551	B;D;B	0.89917	0.246;1.0;0.246	B;D;B	0.85130	0.008;0.997;0.008	D	0.99066	1.0832	10	0.72032	D	0.01	.	13.7078	0.62651	0.0752:0.0:0.9248:0.0	.	482;482;481	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	481;482;482;482	ENSP00000353362:R481C	ENSP00000317661:R482C	R	-	1	0	CACNA1A	13289040	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.782000	0.68973	1.437000	0.47472	-0.136000	0.14681	CGC		0.512	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		21	92	0	0	0	1	0	21	92				
STRADB	55437	broad.mit.edu	37	2	202339474	202339474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202339474C>T	ENST00000194530.3	+	6	785	c.420C>T	c.(418-420)gcC>gcT	p.A140A	STRADB_ENST00000392249.2_Silent_p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CATTTATGGCCTATGGTAAGA	0.343																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(418-420)gcC>gcT		STE20-related kinase adaptor beta							84.0	85.0	85.0					2																	202339474		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202339474C>T	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.420C>T	2.37:g.202339474C>T						STRADB_ENST00000392249.2_Silent_p.A140A	p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			6	785	+			140			Protein kinase.		Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.420C>T	CCDS2348.1																																																																																				0.343	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		110	329	0	0	0	1	0	110	329				
GIPC2	54810	broad.mit.edu	37	1	78546358	78546358	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78546358G>A	ENST00000370759.3	+	2	433		c.e2-1		GIPC2_ENST00000476882.1_Splice_Site	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TTTCTTTGCAGATCTTATATT	0.318																																						ENST00000370759.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.e2-1		GIPC PDZ domain containing family, member 2							101.0	104.0	103.0					1																	78546358		2203	4300	6503	SO:0001630	splice_region_variant	54810					cytoplasm		g.chr1:78546358G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.241-1G>A	1.37:g.78546358G>A						GIPC2_ENST00000476882.1_Splice_Site		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN			2	433	+								Q8IYD3|Q9NXS7	Splice_Site	SNP	ENST00000370759.3	37		CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322948	0.81580	.	.	ENSG00000137960	ENST00000370759	.	.	.	6.02	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7102	0.69225	0.0687:0.0:0.9313:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIPC2	78318946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	.		0.318	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655	Intron	34	386	0	0	0	1	0	34	386				
PCDH15	65217	broad.mit.edu	37	10	56128916	56128916	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56128916A>T	ENST00000320301.6	-	5	832	c.438T>A	c.(436-438)acT>acA	p.T146T	PCDH15_ENST00000373955.1_Silent_p.T146T|PCDH15_ENST00000395440.1_Silent_p.T146T|PCDH15_ENST00000437009.1_Silent_p.T146T|PCDH15_ENST00000414778.1_Silent_p.T151T|PCDH15_ENST00000395432.2_Silent_p.T146T|PCDH15_ENST00000361849.3_Silent_p.T146T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.T146T|PCDH15_ENST00000373965.2_Silent_p.T146T|PCDH15_ENST00000395433.1_Silent_p.T124T|PCDH15_ENST00000395445.1_Silent_p.T146T|PCDH15_ENST00000395446.1_Silent_p.T146T|PCDH15_ENST00000373957.3_Silent_p.T124T|PCDH15_ENST00000395430.1_Silent_p.T146T|PCDH15_ENST00000395442.1_Silent_p.T146T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	146	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATGCTTGAAAGTGGGTGAGT	0.403										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(436-438)acT>acA		protocadherin-related 15							166.0	127.0	140.0					10																	56128916		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56128916A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.438T>A	10.37:g.56128916A>T		HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Silent_p.T146T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.T124T|PCDH15_ENST00000395430.1_Silent_p.T146T|PCDH15_ENST00000395445.1_Silent_p.T146T|PCDH15_ENST00000414778.1_Silent_p.T151T|PCDH15_ENST00000395446.1_Silent_p.T146T|PCDH15_ENST00000437009.1_Silent_p.T146T|PCDH15_ENST00000395438.1_Silent_p.T146T|PCDH15_ENST00000320301.6_Silent_p.T146T|PCDH15_ENST00000373955.1_Silent_p.T146T|PCDH15_ENST00000395440.1_Silent_p.T146T|PCDH15_ENST00000395432.2_Silent_p.T146T|PCDH15_ENST00000395442.1_Silent_p.T146T|PCDH15_ENST00000395433.1_Silent_p.T124T	p.T146T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			5	832	-		Melanoma(3;0.117)|Lung SC(717;0.238)	146			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.438T>A	CCDS7248.1																																																																																				0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		49	211	0	0	0	1	0	49	211				
EFTUD2	9343	broad.mit.edu	37	17	42957999	42957999	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42957999A>G	ENST00000426333.2	-	8	839	c.542T>C	c.(541-543)aTc>aCc	p.I181T	EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	181	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGTGCTTTTGATGCCTACACC	0.443																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(541-543)aTc>aCc		elongation factor Tu GTP binding domain containing 2							154.0	145.0	148.0					17																	42957999		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42957999A>G	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.542T>C	17.37:g.42957999A>G	ENSP00000392094:p.Ile181Thr					EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T|EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T	p.I181T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			8	839	-		Prostate(33;0.109)	181					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.542T>C	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196402	0.78902	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.77098	-1.07;-1.07	5.23	5.23	0.72850	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.044203	0.85682	D	0.000000	D	0.86920	0.6049	M	0.88512	2.96	0.80722	D	1	P;P	0.35944	0.529;0.529	P;P	0.48524	0.58;0.58	D	0.88626	0.3166	10	0.66056	D	0.02	-1.4112	15.2882	0.73846	1.0:0.0:0.0:0.0	.	171;181	B4DMC0;Q15029	.;U5S1_HUMAN	T	181;171;146	ENSP00000392094:I181T;ENSP00000385873:I146T	ENSP00000262414:I171T	I	-	2	0	EFTUD2	40313525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.777000	0.91781	2.191000	0.70037	0.482000	0.46254	ATC		0.443	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		70	259	0	0	0	1	0	70	259				
WAC	51322	broad.mit.edu	37	10	28878735	28878735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878735G>A	ENST00000354911.4	+	5	613	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	WAC_ENST00000375664.4_Missense_Mutation_p.R106Q|WAC_ENST00000428935.1_Missense_Mutation_p.R106Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000347934.4_Missense_Mutation_p.R151Q	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	151	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TACAATTGTCGAACAGAAGTT	0.318																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(316-318)cGa>cAa		WW domain containing adaptor with coiled-coil							84.0	92.0	89.0					10																	28878735		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28878735G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.452G>A	10.37:g.28878735G>A	ENSP00000346986:p.Arg151Gln					WAC_ENST00000428935.1_Missense_Mutation_p.R106Q|WAC_ENST00000347934.4_Missense_Mutation_p.R151Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000354911.4_Missense_Mutation_p.R151Q	p.R106Q			Q9BTA9	WAC_HUMAN			5	926	+			151					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.317G>A	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167989	0.94768	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.24	4.33	0.51752	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	N	0.17312	0.475	0.80722	D	1	B;P;P	0.42584	0.274;0.784;0.515	B;B;B	0.40444	0.036;0.329;0.06	T	0.75513	-0.3291	10	0.45353	T	0.12	-5.4856	16.1738	0.81836	0.0:0.1336:0.8664:0.0	.	106;151;151	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Q	106;106;151;151;106;106;106;106;106;106	ENSP00000364816:R106Q;ENSP00000364797:R106Q;ENSP00000311106:R151Q;ENSP00000346986:R151Q;ENSP00000399706:R106Q;ENSP00000404758:R106Q;ENSP00000400848:R106Q;ENSP00000415645:R106Q	ENSP00000311106:R151Q	R	+	2	0	WAC	28918741	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.567000	0.98161	1.315000	0.45114	0.563000	0.77884	CGA		0.318	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		72	322	0	0	0	1	0	72	322				
LIPF	8513	broad.mit.edu	37	10	90429617	90429617	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90429617A>G	ENST00000238983.4	+	5	492	c.446A>G	c.(445-447)gAc>gGc	p.D149G	LIPF_ENST00000355843.2_Missense_Mutation_p.D126G|LIPF_ENST00000394375.3_Missense_Mutation_p.D159G|LIPF_ENST00000608620.1_Missense_Mutation_p.D116G	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	149					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	GCTAAATATGACCTTCCAGCC	0.378																																						ENST00000394375.3																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13						c.(475-477)gAc>gGc		lipase, gastric							167.0	157.0	160.0					10																	90429617		2203	4300	6503	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90429617A>G	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.446A>G	10.37:g.90429617A>G	ENSP00000238983:p.Asp149Gly					LIPF_ENST00000355843.2_Missense_Mutation_p.D116G|LIPF_ENST00000238983.4_Missense_Mutation_p.D149G	p.D159G	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	6	589	+		Colorectal(252;0.0161)	149					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.476A>G	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395450	0.83011	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.79940	-1.32;-1.32;-1.32	5.07	5.07	0.68467	Alpha/beta hydrolase fold-1 (1);	0.000000	0.64402	D	0.000015	D	0.94627	0.8268	H	0.99794	4.785	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.998;0.997;0.999	D	0.96729	0.9538	10	0.87932	D	0	-31.7369	13.9526	0.64129	1.0:0.0:0.0:0.0	.	116;159;126;149	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	G	159;149;116	ENSP00000377900:D159G;ENSP00000238983:D149G;ENSP00000348101:D116G	ENSP00000238983:D149G	D	+	2	0	LIPF	90419597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.672000	0.91181	2.110000	0.64415	0.528000	0.53228	GAC		0.378	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			119	517	0	0	0	1	0	119	517				
ICAM3	3385	broad.mit.edu	37	19	10444960	10444960	+	Silent	SNP	G	G	A	rs527877890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444960G>A	ENST00000160262.5	-	6	1525	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Silent_p.G362G	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	439	Ig-like C2-type 5.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCCGGCTGGAGCCTTCCTTCA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18017	0.0		0.001	False		,,,				2504	0.0					ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1084-1086)ggC>ggT		intercellular adhesion molecule 3							84.0	85.0	85.0					19																	10444960		2203	4300	6503	SO:0001819	synonymous_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10444960G>A		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1317C>T	19.37:g.10444960G>A						ICAM3_ENST00000160262.5_Silent_p.G439G	p.G362G			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		6	1618	-			439			Ig-like C2-type 4.		Q6PD68	Silent	SNP	ENST00000160262.5	37	c.1086C>T	CCDS12235.1																																																																																				0.567	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			9	407	0	0	0	1	0	9	407				
CRLF1	9244	broad.mit.edu	37	19	18710412	18710412	+	Silent	SNP	G	G	A	rs562764303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710412G>A	ENST00000392386.3	-	2	553	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	120	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGATGCTGCCGTCACGGGCGT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16829	0.001		0.0	False		,,,				2504	0.0					ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(358-360)gaC>gaT		cytokine receptor-like factor 1							34.0	35.0	34.0					19																	18710412		2202	4300	6502	SO:0001819	synonymous_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710412G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.360C>T	19.37:g.18710412G>A							p.D120D	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			2	553	-			120			Ig-like C2-type.		Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.360C>T	CCDS32962.1																																																																																				0.647	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			67	217	0	0	0	1	0	67	217				
CD300LF	146722	broad.mit.edu	37	17	72699238	72699238	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72699238C>A	ENST00000326165.6	-	3	494		c.e3-1		CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Splice_Site|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S|CD300LF_ENST00000343125.4_Splice_Site|CD300LF_ENST00000361254.4_Missense_Mutation_p.A146S|CD300LF_ENST00000301573.9_Splice_Site|CD300LF_ENST00000469092.1_Splice_Site	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f						immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGACTGGTGCTGTAAACGTA	0.567																																						ENST00000361254.4																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(436-438)Gca>Tca		CD300 molecule-like family member f							216.0	174.0	188.0					17																	72699238		2203	4300	6503	SO:0001630	splice_region_variant	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72699238C>A	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.383-1G>T	17.37:g.72699238C>A						CD300LF_ENST00000469092.1_Splice_Site|CD300LF_ENST00000343125.4_Splice_Site|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000326165.6_Splice_Site|CD300LF_ENST00000301573.9_Splice_Site|CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Splice_Site|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S	p.A146S			Q8TDQ1	CLM1_HUMAN			3	435	-			128					B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.436G>T	CCDS11704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.397|5.397	0.258510|0.258510	0.10239|0.10239	.|.	.|.	ENSG00000186074|ENSG00000186074	ENST00000301573;ENST00000343125;ENST00000326165|ENST00000361254	.|T	.|0.03663	.|3.85	4.35|4.35	0.167|0.167	0.15006|0.15006	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02193	.|0.0068	.|.	.|.	.|.	0.20196|0.20196	N|N	0.999926|0.999926	.|P;B	.|0.35272	.|0.493;0.42	.|B;B	.|0.29176	.|0.045;0.099	.|T	.|0.48833	.|-0.9000	.|7	.|.	.|.	.|.	.|.	6.1128|6.1128	0.20110|0.20110	0.0:0.5579:0.0:0.4421|0.0:0.5579:0.0:0.4421	.|.	.|143;146	.|E7EME0;Q8TDQ1-2	.|.;.	.|S	-1|146	.|ENSP00000355294:A146S	.|.	.|A	-|-	.|1	.|0	CD300LF|CD300LF	70210833|70210833	0.013000|0.013000	0.17824|0.17824	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-0.022000|-0.022000	0.12480|0.12480	0.221000|0.221000	0.20879|0.20879	0.655000|0.655000	0.94253|0.94253	.|GCA		0.567	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018	Intron	49	308	1	0	1.64591e-14	1	1.78884e-14	49	308				
SH2D2A	9047	broad.mit.edu	37	1	156779246	156779246	+	Missense_Mutation	SNP	C	C	T	rs367900320		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156779246C>T	ENST00000368199.3	-	7	904	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A261T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	251	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGGTTTGGCGGGGATGGGA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15171	0.0		0.0	False		,,,				2504	0.001					ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(781-783)Gcc>Acc		SH2 domain containing 2A		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	54.0	62.0	59.0		781,697,667,751,751	3.0	0.4	1		59	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SH2D2A	NM_001161441.1,NM_001161442.1,NM_001161443.1,NM_001161444.1,NM_003975.3	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	261/400,233/372,223/362,251/390,251/390	156779246	1,13005	2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779246C>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.751G>A	1.37:g.156779246C>T	ENSP00000357182:p.Ala251Thr					SH2D2A_ENST00000368199.3_Missense_Mutation_p.A251T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	p.A261T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			7	920	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		251			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.781G>A	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312911	0.40895	2.27E-4	0.0	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.60920	0.19;0.15;0.6	3.92	3.0	0.34707	.	0.769781	0.11950	N	0.513770	T	0.34193	0.0889	L	0.34521	1.04	0.21984	N	0.999432	D;D;D	0.61697	0.99;0.983;0.983	P;B;B	0.49192	0.602;0.397;0.397	T	0.05289	-1.0894	10	0.33141	T	0.24	-9.6279	9.5505	0.39306	0.0:0.8926:0.0:0.1074	.	261;233;251	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	251;233;261	ENSP00000357182:A251T;ENSP00000357181:A233T;ENSP00000376123:A261T	ENSP00000357181:A233T	A	-	1	0	SH2D2A	155045870	0.704000	0.27836	0.424000	0.26647	0.690000	0.40134	1.018000	0.30002	0.984000	0.38629	-0.266000	0.10368	GCC		0.637	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		104	480	0	0	0	1	0	104	480				
C22orf42	150297	broad.mit.edu	37	22	32555003	32555003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32555003G>A	ENST00000382097.3	-	1	272	c.200C>T	c.(199-201)cCg>cTg	p.P67L	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	67										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGGCGTCTTCGGGAGGCTGAG	0.557																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(199-201)cCg>cTg		chromosome 22 open reading frame 42							181.0	175.0	177.0					22																	32555003		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32555003G>A	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.200C>T	22.37:g.32555003G>A	ENSP00000371529:p.Pro67Leu						p.P67L	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			1	272	-			67					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.200C>T	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	3.665	-0.068624	0.07228	.	.	ENSG00000205856	ENST00000382097	T	0.24723	1.84	.	.	.	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.59546	0.859	T	0.15983	-1.0418	7	0.51188	T	0.08	.	.	.	.	.	67	Q6IC83	CV042_HUMAN	L	67	ENSP00000371529:P67L	ENSP00000371529:P67L	P	-	2	0	C22orf42	30885003	0.003000	0.15002	0.025000	0.17156	0.029000	0.11900	0.226000	0.17776	0.064000	0.16427	0.064000	0.15345	CCG		0.557	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		241	1045	0	0	0	1	0	241	1045				
NLRP13	126204	broad.mit.edu	37	19	56423953	56423953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423953C>T	ENST00000342929.3	-	5	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	NLRP13_ENST00000588751.1_Silent_p.Q410Q	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	410	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCTTAGCTGCTGCAGGATTT	0.458																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1228-1230)caG>caA		NLR family, pyrin domain containing 13							84.0	89.0	87.0					19																	56423953		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423953C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1230G>A	19.37:g.56423953C>T						NLRP13_ENST00000342929.3_Silent_p.Q410Q	p.Q410Q			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1254	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	410			NACHT.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1230G>A	CCDS33119.1																																																																																				0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		83	323	0	0	0	1	0	83	323				
LRGUK	136332	broad.mit.edu	37	7	133933760	133933760	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133933760A>C	ENST00000285928.2	+	18	2199	c.2130A>C	c.(2128-2130)gaA>gaC	p.E710D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	710						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTTAGAAGAACTCTGGAAAA	0.368																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(2128-2130)gaA>gaC		leucine-rich repeats and guanylate kinase domain containing							79.0	81.0	81.0					7																	133933760		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133933760A>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2130A>C	7.37:g.133933760A>C	ENSP00000285928:p.Glu710Asp						p.E710D	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			18	2199	+			710					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.2130A>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	8.507	0.865667	0.17250	.	.	ENSG00000155530	ENST00000285928	T	0.38240	1.15	3.27	-4.44	0.03557	.	0.311846	0.27754	N	0.018000	T	0.17492	0.0420	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05903	-1.0857	10	0.48119	T	0.1	-11.3641	1.0572	0.01592	0.304:0.1769:0.346:0.1732	.	710	Q96M69	LRGUK_HUMAN	D	710	ENSP00000285928:E710D	ENSP00000285928:E710D	E	+	3	2	LRGUK	133584300	0.043000	0.20138	0.001000	0.08648	0.023000	0.10783	0.036000	0.13819	-0.943000	0.03691	-0.263000	0.10527	GAA		0.368	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		67	232	0	0	0	1	0	67	232				
LMOD3	56203	broad.mit.edu	37	3	69169146	69169146	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69169146T>G	ENST00000420581.2	-	2	539	c.360A>C	c.(358-360)aaA>aaC	p.K120N	LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N|LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	120	Glu-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGAGCTTTTCTTTTAAATACT	0.328																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(358-360)aaA>aaC		leiomodin 3 (fetal)							59.0	49.0	52.0					3																	69169146		1829	4083	5912	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69169146T>G	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.360A>C	3.37:g.69169146T>G	ENSP00000414670:p.Lys120Asn					LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N|LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N	p.K120N	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	539	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	120			Glu-rich.		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.360A>C	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	T	8.956	0.969269	0.18659	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.42513	0.97;0.97;0.97	5.43	1.65	0.23941	.	1.267940	0.04832	N	0.438860	T	0.42630	0.1211	L	0.57536	1.79	0.19300	N	0.99997	B	0.32010	0.351	B	0.40329	0.326	T	0.32348	-0.9910	10	0.19590	T	0.45	-30.8145	3.7605	0.08602	0.2288:0.2411:0.0:0.5301	.	120	Q0VAK6	LMOD3_HUMAN	N	120	ENSP00000414670:K120N;ENSP00000417210:K120N;ENSP00000418645:K120N	ENSP00000414670:K120N	K	-	3	2	LMOD3	69251836	0.012000	0.17670	0.999000	0.59377	0.752000	0.42762	0.255000	0.18333	0.363000	0.24346	0.482000	0.46254	AAA		0.328	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		14	69	0	0	0	1	0	14	69				
PER1	5187	broad.mit.edu	37	17	8051103	8051103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8051103C>T	ENST00000317276.4	-	11	1514	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.R406H|PER1_ENST00000354903.5_Missense_Mutation_p.R410H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	426	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCACAGAAGCGGATAGGGGA	0.617			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1276-1278)cGc>cAc	Other conserved DNA damage response genes	period circadian clock 1							37.0	37.0	37.0					17																	8051103		2202	4300	6502	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8051103C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1277G>A	17.37:g.8051103C>T	ENSP00000314420:p.Arg426His					PER1_ENST00000354903.5_Missense_Mutation_p.R410H|PER1_ENST00000581082.1_Missense_Mutation_p.R406H	p.R426H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			11	1514	-			426			PAC.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.1277G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909148	0.92107	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.43688	0.94;0.94	4.73	4.73	0.59995	PAS fold-3 (1);	0.051652	0.64402	D	0.000001	T	0.76579	0.4007	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85115	0.0965	10	0.87932	D	0	-19.2658	15.5824	0.76455	0.0:1.0:0.0:0.0	.	410;426	B4DI49;O15534	.;PER1_HUMAN	H	426;410	ENSP00000314420:R426H;ENSP00000346979:R410H	ENSP00000314420:R426H	R	-	2	0	PER1	7991828	0.997000	0.39634	0.997000	0.53966	0.982000	0.71751	7.544000	0.82117	2.619000	0.88677	0.462000	0.41574	CGC		0.617	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			32	178	0	0	0	1	0	32	178				
N4BP2	55728	broad.mit.edu	37	4	40104536	40104536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40104536G>A	ENST00000261435.6	+	4	1487	c.1071G>A	c.(1069-1071)ccG>ccA	p.P357P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	357	Pro-rich.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGCCTCCTCCGCCACCTCCAC	0.512																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1069-1071)ccG>ccA		NEDD4 binding protein 2							125.0	121.0	122.0					4																	40104536		2203	4300	6503	SO:0001819	synonymous_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104536G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1071G>A	4.37:g.40104536G>A							p.P357P	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			4	1487	+			357			Pro-rich.		A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	c.1071G>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.602319	0.00849	.	.	ENSG00000078177	ENST00000513269	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09618	-1.0666	4	.	.	.	-2.5964	0.9054	0.01283	0.2678:0.2321:0.2979:0.2023	.	.	.	.	T	4	.	.	A	+	1	0	N4BP2	39780931	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-1.413000	0.02473	-1.582000	0.01640	-1.303000	0.01326	GCC		0.512	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		94	401	0	0	0	1	0	94	401				
C11orf94	143678	broad.mit.edu	37	11	45928146	45928146	+	Missense_Mutation	SNP	C	C	T	rs370775218	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928146C>T	ENST00000449465.1	-	3	307	c.271G>A	c.(271-273)Gag>Aag	p.E91K	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	91						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TAGTAATACTCGGCAAGGTCG	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		18929	0.0		0.0	False		,,,				2504	0.0031					ENST00000449465.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						c.(271-273)Gag>Aag		chromosome 11 open reading frame 94		C	LYS/GLU	0,3844		0,0,1922	85.0	89.0	88.0		271	4.7	0.9	11		88	1,8245		0,1,4122	no	missense	C11orf94	NM_001080446.2	56	0,1,6044	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	91/99	45928146	1,12089	1922	4123	6045	SO:0001583	missense	143678					extracellular region		g.chr11:45928146C>T		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.271G>A	11.37:g.45928146C>T	ENSP00000401498:p.Glu91Lys						p.E91K	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN			3	307	-			91						Missense_Mutation	SNP	ENST00000449465.1	37	c.271G>A	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536627	0.45176	0.0	1.21E-4	ENSG00000234776	ENST00000449465	T	0.53206	0.63	4.66	4.66	0.58398	.	.	.	.	.	T	0.53174	0.1780	.	.	.	0.31659	N	0.64586	D	0.56521	0.976	P	0.47981	0.563	T	0.63580	-0.6605	8	0.62326	D	0.03	-14.8082	17.7516	0.88436	0.0:1.0:0.0:0.0	.	91	C9JXX5	CK094_HUMAN	K	91	ENSP00000401498:E91K	ENSP00000401498:E91K	E	-	1	0	C11orf94	45884722	0.983000	0.35010	0.918000	0.36340	0.016000	0.09150	2.674000	0.46867	2.419000	0.82065	0.655000	0.94253	GAG		0.607	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		88	484	0	0	0	1	0	88	484				
KIAA0430	9665	broad.mit.edu	37	16	15718648	15718648	+	Missense_Mutation	SNP	C	C	T	rs370385036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15718648C>T	ENST00000396368.3	-	10	2454	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T	KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	750					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GACTGAGATGCGAGCAGAGGA	0.428																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(2248-2250)Gca>Aca		KIAA0430		C	THR/ALA,THR/ALA,THR/ALA	0,3946		0,0,1973	115.0	121.0	119.0		2248,2239,2245	-7.6	0.0	16		119	1,8323		0,1,4161	no	missense,missense,missense	KIAA0430	NM_014647.3,NM_001184999.1,NM_001184998.1	58,58,58	0,1,6134	TT,TC,CC		0.012,0.0,0.0081	benign,benign,benign	750/1743,747/1740,749/1743	15718648	1,12269	1973	4162	6135	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15718648C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2248G>A	16.37:g.15718648C>T	ENSP00000379654:p.Ala750Thr					KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T	p.A750T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			10	2454	-			749					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2248G>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212746	0.09757	0.0	1.2E-4	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.08	-7.59	0.01308	.	1.014950	0.07841	N	0.963039	T	0.09905	0.0243	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.44452	-0.9327	9	0.05959	T	0.93	.	12.1485	0.54036	0.1754:0.5963:0.0:0.2282	.	748;747;746;749	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	T	750;607;749;428;747;749;606	.	ENSP00000315718:A749T	A	-	1	0	KIAA0430	15626149	0.001000	0.12720	0.004000	0.12327	0.596000	0.36781	-0.766000	0.04725	-1.422000	0.02004	-1.083000	0.02208	GCA		0.428	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		41	483	0	0	0	1	0	41	483				
FAT4	79633	broad.mit.edu	37	4	126239005	126239005	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239005A>G	ENST00000394329.3	+	1	1452	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	480	Cadherin 5. {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						CAGCAAGTGTACAGAGTGAAC	0.542											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1438-1440)tAc>tGc		FAT atypical cadherin 4							43.0	47.0	46.0					4																	126239005		2197	4293	6490	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239005A>G	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.1439A>G	4.37:g.126239005A>G	ENSP00000377862:p.Tyr480Cys		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.Y480C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	1452	+			480			Cadherin 5.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1439A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511323	0.44660	.	.	ENSG00000196159	ENST00000394329	T	0.57595	0.39	4.66	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.000000	0.31859	U	0.006954	T	0.79034	0.4378	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80407	-0.1395	10	0.87932	D	0	.	7.4765	0.27378	0.8343:0.0:0.1657:0.0	.	480	Q6V0I7	FAT4_HUMAN	C	480	ENSP00000377862:Y480C	ENSP00000377862:Y480C	Y	+	2	0	FAT4	126458455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.147000	0.58078	0.831000	0.34780	0.459000	0.35465	TAC		0.542	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		35	153	0	0	0	1	0	35	153				
FOXD4	2298	broad.mit.edu	37	9	118009	118009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118009G>A	ENST00000382500.2	-	1	408	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	37					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCTCCTCCTCGTCTTCATCTT	0.662																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(109-111)gaC>gaT		forkhead box D4							44.0	59.0	54.0					9																	118009		2203	4300	6503	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118009G>A	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.111C>T	9.37:g.118009G>A							p.D37D	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	408	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	37					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.111C>T	CCDS34975.1																																																																																				0.662	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		101	510	0	0	0	1	0	101	510				
MSI1	4440	broad.mit.edu	37	12	120783401	120783401	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120783401T>G	ENST00000257552.2	-	14	1170	c.1082A>C	c.(1081-1083)tAc>tCc	p.Y361S		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	361					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCAGTGGTACCCATTGGT	0.572																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(1081-1083)tAc>tCc		musashi RNA-binding protein 1							119.0	111.0	114.0					12																	120783401		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120783401T>G	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.1082A>C	12.37:g.120783401T>G	ENSP00000257552:p.Tyr361Ser						p.Y361S	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			14	1170	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		361					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.1082A>C	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868890	0.72065	.	.	ENSG00000135097	ENST00000257552	T	0.39229	1.09	4.72	2.24	0.28232	.	0.000000	0.56097	D	0.000027	T	0.58409	0.2120	M	0.68952	2.095	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.57676	-0.7770	10	0.87932	D	0	.	9.8364	0.40971	0.2735:0.0:0.0:0.7265	.	361	O43347	MSI1H_HUMAN	S	361	ENSP00000257552:Y361S	ENSP00000257552:Y361S	Y	-	2	0	MSI1	119267784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	0.276000	0.22118	0.454000	0.30748	TAC		0.572	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		89	505	0	0	0	1	0	89	505				
SLC9A3R2	9351	broad.mit.edu	37	16	2087936	2087936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2087936C>T	ENST00000424542.2	+	7	1103	c.965C>T	c.(964-966)gCg>gTg	p.A322V	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V|NTHL1_ENST00000562951.1_5'Flank	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	322					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						AACAAGCGCGCGCCACAGATG	0.642																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(964-966)gCg>gTg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							43.0	53.0	50.0					16																	2087936		2116	4212	6328	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2087936C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.965C>T	16.37:g.2087936C>T	ENSP00000408005:p.Ala322Val					SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V	p.A322V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			7	1103	+			322					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.965C>T	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870517	0.72065	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.55760	0.5;1.09	5.09	5.09	0.68999	EBP50, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.949;0.994	T	0.71968	-0.4432	10	0.59425	D	0.04	-11.734	17.4642	0.87628	0.0:1.0:0.0:0.0	.	357;311;322	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	V	322;311	ENSP00000408005:A322V;ENSP00000402857:A311V	ENSP00000408005:A322V	A	+	2	0	SLC9A3R2	2027937	1.000000	0.71417	0.939000	0.37840	0.365000	0.29674	7.125000	0.77193	2.377000	0.81083	0.491000	0.48974	GCG		0.642	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			17	94	0	0	0	1	0	17	94				
QSER1	79832	broad.mit.edu	37	11	32955888	32955888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32955888G>A	ENST00000399302.2	+	4	3032	c.2697G>A	c.(2695-2697)gtG>gtA	p.V899V	QSER1_ENST00000527788.1_Silent_p.V660V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	899										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGGCATGTGACTTCAGATT	0.373																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(2695-2697)gtG>gtA		glutamine and serine rich 1							77.0	71.0	73.0					11																	32955888		1875	4119	5994	SO:0001819	synonymous_variant	79832							g.chr11:32955888G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2697G>A	11.37:g.32955888G>A						QSER1_ENST00000527788.1_Silent_p.V660V	p.V899V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3032	+	Breast(20;0.158)		899					Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.2697G>A	CCDS41631.1																																																																																				0.373	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		61	285	0	0	0	1	0	61	285				
EP400	57634	broad.mit.edu	37	12	132498065	132498065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132498065G>A	ENST00000333577.4	+	19	3859	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	EP400_ENST00000332482.4_Silent_p.P1177P|EP400_ENST00000389561.2_Silent_p.P1214P|EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000330386.6_Silent_p.P1214P			Q96L91	EP400_HUMAN	E1A binding protein p400	1250	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGACTCGCCGCTGCACAATA	0.592																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(3748-3750)ccG>ccA		E1A binding protein p400							88.0	88.0	88.0					12																	132498065		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132498065G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3750G>A	12.37:g.132498065G>A						EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000389561.2_Silent_p.P1214P|EP400_ENST00000330386.6_Silent_p.P1214P|EP400_ENST00000332482.4_Silent_p.P1177P	p.P1250P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	19	3859	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1250			Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.3750G>A																																																																																					0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		110	386	0	0	0	1	0	110	386				
ZNF681	148213	broad.mit.edu	37	19	23927387	23927387	+	Missense_Mutation	SNP	G	G	A	rs543743392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23927387G>A	ENST00000402377.3	-	4	1106	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGGTTGAA	0.388																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(964-966)tCc>tTc		zinc finger protein 681							116.0	113.0	114.0					19																	23927387		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927387G>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.965C>T	19.37:g.23927387G>A	ENSP00000384000:p.Ser322Phe					ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	p.S322F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1106	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	322					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.965C>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.263283	0.01445	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.16196	2.36;2.36	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	M	0.66506	2.035	0.09310	N	1	B	0.25850	0.136	B	0.24394	0.053	T	0.26189	-1.0110	9	0.25106	T	0.35	.	4.1271	0.10133	0.0:0.0:0.5976:0.4023	.	322	Q96N22	ZN681_HUMAN	F	322;253	ENSP00000384000:S322F;ENSP00000378783:S253F	ENSP00000378783:S253F	S	-	2	0	ZNF681	23719227	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-6.620000	0.00059	0.798000	0.33994	0.313000	0.20887	TCC		0.388	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		58	301	0	0	0	1	0	58	301				
NLRP13	126204	broad.mit.edu	37	19	56407480	56407480	+	Missense_Mutation	SNP	G	G	A	rs201165184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56407480G>A	ENST00000342929.3	-	11	2962	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V	NLRP13_ENST00000588751.1_Missense_Mutation_p.A988V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	988							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGCATTTCGCCAACCTAGG	0.458																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2962-2964)gCg>gTg		NLR family, pyrin domain containing 13							81.0	80.0	80.0					19																	56407480		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56407480G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2963C>T	19.37:g.56407480G>A	ENSP00000343891:p.Ala988Val					NLRP13_ENST00000342929.3_Missense_Mutation_p.A988V	p.A988V			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	11	2987	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	988					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2963C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457029	0.12283	.	.	ENSG00000173572	ENST00000342929	T	0.53857	0.6	3.0	-2.83	0.05769	.	.	.	.	.	T	0.25044	0.0608	N	0.05574	-0.02	0.09310	N	1	P	0.39748	0.686	B	0.34138	0.176	T	0.18745	-1.0327	9	0.15066	T	0.55	.	11.3765	0.49730	0.0:0.0:0.7324:0.2676	.	988	Q86W25	NAL13_HUMAN	V	988	ENSP00000343891:A988V	ENSP00000343891:A988V	A	-	2	0	NLRP13	61099292	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.576000	0.05854	-0.373000	0.07979	-0.467000	0.05162	GCG		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		105	359	0	0	0	1	0	105	359				
SSTR4	6754	broad.mit.edu	37	20	23016359	23016359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016359C>T	ENST00000255008.3	+	1	303	c.239C>T	c.(238-240)aCg>aTg	p.T80M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	80					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.T80M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGATGAAGACGGCTACCAAC	0.632																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			1	Substitution - Missense(1)	p.T80M(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(238-240)aCg>aTg		somatostatin receptor 4							128.0	135.0	133.0					20																	23016359		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016359C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.239C>T	20.37:g.23016359C>T	ENSP00000255008:p.Thr80Met					RP4-753D10.3_ENST00000440921.1_RNA	p.T80M	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	303	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		80					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.239C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223631	0.79576	.	.	ENSG00000132671	ENST00000255008	T	0.46819	0.86	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000005	T	0.74222	0.3688	M	0.92970	3.365	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	T	0.82368	-0.0492	10	0.87932	D	0	.	14.3291	0.66541	0.0:1.0:0.0:0.0	.	80	P31391	SSR4_HUMAN	M	80	ENSP00000255008:T80M	ENSP00000255008:T80M	T	+	2	0	SSTR4	22964359	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.256000	0.65468	1.811000	0.52892	0.561000	0.74099	ACG		0.632	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			166	802	0	0	0	1	0	166	802				
BAG3	9531	broad.mit.edu	37	10	121429472	121429472	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429472C>A	ENST00000369085.3	+	2	596	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	97					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ATTCCCATTCCTGTGCTCCAT	0.637																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(289-291)cCt>cAt		BCL2-associated athanogene 3							127.0	127.0	127.0					10																	121429472		2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121429472C>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.290C>A	10.37:g.121429472C>A	ENSP00000358081:p.Pro97His						p.P97H	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	2	596	+		Lung NSC(174;0.109)|all_lung(145;0.142)	97					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.290C>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687358	0.88639	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	D;D	0.91894	-1.85;-2.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96290	0.9213	10	0.87932	D	0	-10.6369	19.1934	0.93677	0.0:1.0:0.0:0.0	.	97;97	O95817;Q53GY1	BAG3_HUMAN;.	H	97;39	ENSP00000358081:P97H;ENSP00000410036:P39H	ENSP00000358081:P97H	P	+	2	0	BAG3	121419462	1.000000	0.71417	0.796000	0.32109	0.852000	0.48524	7.059000	0.76684	2.536000	0.85505	0.561000	0.74099	CCT		0.637	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		61	886	1	0	9.59835e-30	1	1.1228e-29	61	886				
ARHGAP10	79658	broad.mit.edu	37	4	148786101	148786101	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148786101G>A	ENST00000336498.3	+	6	830	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGAGTTTGTGGAACCTGTGA	0.373																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(589-591)gtG>gtA		Rho GTPase activating protein 10							110.0	112.0	112.0					4																	148786101		2203	4300	6503	SO:0001819	synonymous_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148786101G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.591G>A	4.37:g.148786101G>A							p.V197V	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	6	830	+	all_hematologic(180;0.151)	Renal(17;0.0166)	197			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	c.591G>A	CCDS34075.1																																																																																				0.373	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		52	196	0	0	0	1	0	52	196				
TRIM50	135892	broad.mit.edu	37	7	72738607	72738607	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72738607A>G	ENST00000333149.2	-	2	379	c.179T>C	c.(178-180)gTg>gCg	p.V60A	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	60						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTGCCGTCCACCGCCTGCCG	0.687											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(178-180)gTg>gCg		tripartite motif containing 50							47.0	47.0	47.0					7																	72738607		2202	4299	6501	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72738607A>G	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.179T>C	7.37:g.72738607A>G	ENSP00000327994:p.Val60Ala		OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	p.V60A	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			2	379	-			60					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.179T>C	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236062	0.22626	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	D;D	0.84442	-1.85;-1.85	3.7	2.48	0.30137	Zinc finger, RING/FYVE/PHD-type (1);	0.108239	0.39146	N	0.001441	T	0.78509	0.4294	L	0.53671	1.685	0.22001	N	0.999425	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.62388	-0.6865	10	0.23891	T	0.37	.	8.3006	0.32012	0.9005:0.0:0.0995:0.0	.	60;60	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	A	60	ENSP00000327994:V60A;ENSP00000413875:V60A	ENSP00000327994:V60A	V	-	2	0	TRIM50	72376543	0.016000	0.18221	0.823000	0.32752	0.789000	0.44602	2.697000	0.47060	0.585000	0.29608	0.397000	0.26171	GTG		0.687	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		78	331	0	0	0	1	0	78	331				
ZNF175	7728	broad.mit.edu	37	19	52090174	52090174	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52090174A>G	ENST00000262259.2	+	5	948	c.590A>G	c.(589-591)aAa>aGa	p.K197R	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	197					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CAACCTCAGAAATGTTGCTTA	0.418																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(589-591)aAa>aGa		zinc finger protein 175							89.0	86.0	87.0					19																	52090174		2203	4299	6502	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090174A>G	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.590A>G	19.37:g.52090174A>G	ENSP00000262259:p.Lys197Arg					ZNF175_ENST00000436511.2_Intron	p.K197R	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	948	+		all_neural(266;0.0299)	197					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.590A>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	A	8.124	0.781600	0.16120	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.2	-1.37	0.09056	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.40440	-0.9563	9	0.46703	T	0.11	.	3.398	0.07313	0.2846:0.0:0.1349:0.5805	.	197	Q9Y473	ZN175_HUMAN	R	197	ENSP00000262259:K197R	ENSP00000262259:K197R	K	+	2	0	ZNF175	56781986	0.000000	0.05858	0.001000	0.08648	0.728000	0.41692	-0.003000	0.12901	-0.459000	0.07013	0.533000	0.62120	AAA		0.418	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		84	404	0	0	0	1	0	84	404				
STRA8	346673	broad.mit.edu	37	7	134927583	134927583	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134927583C>A	ENST00000275764.3	+	3	309	c.309C>A	c.(307-309)acC>acA	p.T103T		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.T103T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TGGAGCAAACCCTGGATAATT	0.458																																						ENST00000275764.3																			1	Substitution - coding silent(1)	p.T103T(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						c.(307-309)acC>acA		stimulated by retinoic acid 8							117.0	115.0	116.0					7																	134927583		2203	4300	6503	SO:0001819	synonymous_variant	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134927583C>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.309C>A	7.37:g.134927583C>A							p.T103T	NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN			3	309	+			103						Silent	SNP	ENST00000275764.3	37	c.309C>A	CCDS5839.1																																																																																				0.458	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		43	401	1	0	2.65591e-33	1	3.14676e-33	43	401				
TRAV8-2	28684	broad.mit.edu	37	14	22315371	22315371	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22315371C>T	ENST00000390434.3	+	0	534									T cell receptor alpha variable 8-2																		CCCATATGAGCGACGCGGCTG	0.512																																						ENST00000390434.3																			0																				76.0	72.0	74.0					14																	22315371		1908	4140	6048			0							g.chr14:22315371C>T	AE000659		14q11.2	2012-02-07			ENSG00000211786	ENSG00000211786		"""T cell receptors / TRA locus"""	12147	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168991		14.37:g.22315371C>T														0	534	+									RNA	SNP	ENST00000390434.3	37																																																																																						0.512	TRAV8-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401889.1	NG_001332		62	345	0	0	0	1	0	62	345				
PCDH19	57526	broad.mit.edu	37	X	99661460	99661460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661460G>A	ENST00000373034.4	-	1	3811	c.2136C>T	c.(2134-2136)acC>acT	p.T712T	PCDH19_ENST00000420881.2_Silent_p.T712T|PCDH19_ENST00000255531.7_Silent_p.T712T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	712					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGCAGTTGTAGGTCCGGATCT	0.428																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(2134-2136)acC>acT		protocadherin 19							76.0	67.0	70.0					X																	99661460		1934	4120	6054	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661460G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2136C>T	X.37:g.99661460G>A						PCDH19_ENST00000420881.2_Silent_p.T712T|PCDH19_ENST00000255531.7_Silent_p.T712T	p.T712T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	3811	-			712					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.2136C>T	CCDS55462.1																																																																																				0.428	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		7	59	0	0	0	1	0	7	59				
CAP2	10486	broad.mit.edu	37	6	17426835	17426835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17426835G>A	ENST00000229922.2	+	3	668	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000493172.1_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	46					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGCACCCTCCGTGGAAGCCTT	0.527																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(136-138)Gtg>Atg		CAP, adenylate cyclase-associated protein, 2 (yeast)							109.0	98.0	102.0					6																	17426835		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17426835G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.136G>A	6.37:g.17426835G>A	ENSP00000229922:p.Val46Met					CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M|CAP2_ENST00000493172.1_Missense_Mutation_p.V46M	p.V46M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		3	668	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	46					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.136G>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093368	0.76756	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.37915	1.17;1.17;1.17;2.42;1.17	5.57	5.57	0.84162	Adenylate cyclase-associated CAP, N-terminal (2);	0.249150	0.41396	D	0.000897	T	0.56746	0.2006	M	0.84773	2.715	0.29975	N	0.81823	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.996;0.941	D;D;D;P;B	0.87578	0.998;0.997;0.998;0.826;0.257	T	0.59257	-0.7488	10	0.62326	D	0.03	-18.492	16.447	0.83937	0.0:0.0:1.0:0.0	.	46;46;46;46;46	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	M	46	ENSP00000229922:V46M;ENSP00000417705:V46M;ENSP00000368275:V46M;ENSP00000417208:V46M;ENSP00000418604:V46M	ENSP00000229922:V46M	V	+	1	0	CAP2	17534814	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.323000	0.43823	2.626000	0.88956	0.591000	0.81541	GTG		0.527	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			70	335	0	0	0	1	0	70	335				
SEMA4B	10509	broad.mit.edu	37	15	90766793	90766793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90766793C>T	ENST00000411539.2	+	8	1124	c.864C>T	c.(862-864)ggC>ggT	p.G288G	SEMA4B_ENST00000332496.6_Silent_p.G288G|SEMA4B_ENST00000379122.3_Silent_p.G283G	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	283	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCTCCAGGGCGATGAGGGTG	0.647																																						ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(862-864)ggC>ggT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							20.0	21.0	21.0					15																	90766793		2113	4221	6334	SO:0001819	synonymous_variant	10509							g.chr15:90766793C>T	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.864C>T	15.37:g.90766793C>T						SEMA4B_ENST00000332496.6_Silent_p.G288G|SEMA4B_ENST00000379122.3_Silent_p.G283G	p.G288G	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		8	1124	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	37	c.864C>T	CCDS45347.1																																																																																				0.647	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		16	94	0	0	0	1	0	16	94				
KLHDC1	122773	broad.mit.edu	37	14	50218425	50218425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50218425C>T	ENST00000359332.2	+	13	1246	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	386						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGCTAATCACCGAGAAGAACA	0.284																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(1156-1158)Cga>Tga		kelch domain containing 1							55.0	56.0	55.0					14																	50218425		2203	4299	6502	SO:0001587	stop_gained	122773					cytoplasm		g.chr14:50218425C>T	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.1156C>T	14.37:g.50218425C>T	ENSP00000352282:p.Arg386*						p.R386*	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN			13	1246	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		386					B3KXD9|Q8WYI1	Nonsense_Mutation	SNP	ENST00000359332.2	37	c.1156C>T	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947149	0.92593	.	.	ENSG00000197776	ENST00000359332	.	.	.	5.53	4.62	0.57501	.	0.106294	0.40064	N	0.001190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6475	11.2832	0.49208	0.3314:0.6686:0.0:0.0	.	.	.	.	X	386	.	ENSP00000352282:R386X	R	+	1	2	KLHDC1	49288175	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.867000	0.27968	1.280000	0.44463	0.467000	0.42956	CGA		0.284	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		27	120	0	0	0	1	0	27	120				
MACF1	23499	broad.mit.edu	37	1	39945590	39945590	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39945590C>A	ENST00000372915.3	+	95	21776	c.21689C>A	c.(21688-21690)tCc>tAc	p.S7230Y	MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000564288.1_Missense_Mutation_p.S7360Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S5272Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7230	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGGCAGCTTCCCCTACTCGT	0.552																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(22078-22080)tCc>tAc		microtubule-actin crosslinking factor 1							117.0	92.0	101.0					1																	39945590		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39945590C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21689C>A	1.37:g.39945590C>A	ENSP00000362006:p.Ser7230Tyr					MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000372915.3_Missense_Mutation_p.S7230Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S5272Y	p.S7360Y			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		98	22856	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7230			C-terminal tail (By similarity).		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.22079C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	33|33|33	5.272131|5.272131|5.272131	0.95429|0.95429|0.95429	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000360115;ENST00000442046|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218;ENST00000422234	.|.|T;T;T;T;T;T	.|.|0.70164	.|.|-0.42;-0.31;-0.42;-0.46;-0.25;0.75	5.81|5.81|5.81	5.81|5.81|5.81	0.92471|0.92471|0.92471	.|.|.	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000014	T|T|T	0.81029|0.81029|0.81029	0.4738|0.4738|0.4738	M|M|M	0.64997|0.64997|0.64997	1.995|1.995|1.995	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D	.|.|0.76494	.|.|0.998;0.996;0.999;0.998;0.999;0.998	.|.|D;D;D;D;D;D	.|.|0.87578	.|.|0.997;0.967;0.998;0.992;0.996;0.997	T|T|T	0.78650|0.78650|0.78650	-0.2121|-0.2121|-0.2121	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	20.0628|20.0628|20.0628	0.97684|0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|7230;5272;4275;63;5780;172	.|.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|T|Y	4275;259|385;173|5272;7230;5272;5272;5142;5780;149;134	.|.|ENSP00000439537:S5272Y;ENSP00000362006:S7230Y;ENSP00000354573:S5272Y;ENSP00000313438:S5272Y;ENSP00000444364:S5142Y;ENSP00000289893:S5780Y	.|.|.	F|P|S	+|+|+	3|1|2	2|0|0	MACF1|MACF1|MACF1	39718177|39718177|39718177	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	7.425000|7.425000|7.425000	0.80255|0.80255|0.80255	2.745000|2.745000|2.745000	0.94114|0.94114|0.94114	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CCC|TCC		0.552	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	293	1	0	2.7689e-08	1	2.89045e-08	7	293				
AAGAB	79719	broad.mit.edu	37	15	67524224	67524224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67524224C>T	ENST00000261880.5	-	5	567	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AAGAB_ENST00000561452.1_Missense_Mutation_p.E46K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	155					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E155*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTGTAGATTCTGGGAAGTCA	0.403																																						ENST00000261880.5																			1	Substitution - Nonsense(1)	p.E155*(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(463-465)Gaa>Aaa		alpha- and gamma-adaptin binding protein							211.0	198.0	202.0					15																	67524224		1887	4126	6013	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67524224C>T	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.463G>A	15.37:g.67524224C>T	ENSP00000261880:p.Glu155Lys					AAGAB_ENST00000561452.1_Missense_Mutation_p.E46K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K	p.E155K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN			5	567	-			155					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.463G>A	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306213	0.95629	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.55588	0.51;0.51	5.21	5.21	0.72293	.	0.093945	0.64402	D	0.000001	T	0.66819	0.2828	M	0.63843	1.955	0.80722	D	1	D	0.58268	0.982	P	0.56398	0.797	T	0.69639	-0.5091	10	0.72032	D	0.01	-20.1834	18.9506	0.92640	0.0:1.0:0.0:0.0	.	155	Q6PD74	AAGAB_HUMAN	K	155;46	ENSP00000261880:E155K;ENSP00000440735:E46K	ENSP00000261880:E155K	E	-	1	0	AAGAB	65311278	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	GAA		0.403	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		149	676	0	0	0	1	0	149	676				
WNK2	65268	broad.mit.edu	37	9	96051635	96051635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96051635G>A	ENST00000297954.4	+	20	4710	c.4710G>A	c.(4708-4710)tcG>tcA	p.S1570S	WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1570					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGGAGTCGGATGGGGAAG	0.701																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4708-4710)tcG>tcA		WNK lysine deficient protein kinase 2							17.0	20.0	19.0					9																	96051635		2201	4297	6498	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051635G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4710G>A	9.37:g.96051635G>A						WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000395477.2_Silent_p.S1533S	p.S1570S			Q9Y3S1	WNK2_HUMAN			20	4710	+			1570					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.4710G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.503|0.503	-0.869937|-0.869937	0.02570|0.02570	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	5.32|5.32	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.48370|0.48370	0.1496|0.1496	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66590|0.66590	-0.5885|-0.5885	4|4	.|.	.|.	.|.	.|.	10.4564|10.4564	0.44553|0.44553	0.1629:0.0:0.3035:0.5336|0.1629:0.0:0.3035:0.5336	.|.	.|.	.|.	.|.	R|Q	1137|1529;330;56	.|.	.|.	G|R	+|+	1|2	0|0	WNK2|WNK2	95091456|95091456	0.000000|0.000000	0.05858|0.05858	0.137000|0.137000	0.22149|0.22149	0.154000|0.154000	0.21943|0.21943	-4.704000|-4.704000	0.00196|0.00196	-3.903000|-3.903000	0.00093|0.00093	-1.618000|-1.618000	0.00794|0.00794	GGA|CGG		0.701	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		10	96	0	0	0	1	0	10	96				
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	rs146807462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9-AS1_ENST00000449656.1_RNA|AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	230	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(688-690)Gaa>Aaa		C1q and tumor necrosis factor related protein 9		G	LYS/GLU	0,4406		0,0,2203	181.0	160.0	167.0		688	3.1	0.0	13	dbSNP_134	167	3,8597		0,3,4297	no	missense	C1QTNF9	NM_178540.3	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	230/334	24895592	3,13003	2203	4300	6503	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24895592G>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.688G>A	13.37:g.24895592G>A	ENSP00000371503:p.Glu230Lys					C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K	p.E230K			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	773	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	230			C1q.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.688G>A	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	3.525	-0.097032	0.07010	0.0	3.49E-4	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93906	-3.31;-3.31	3.96	3.1	0.35709	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.666605	0.15858	N	0.241198	D	0.90246	0.6950	L	0.60845	1.875	0.09310	N	1	B	0.20780	0.048	B	0.18263	0.021	T	0.82639	-0.0358	10	0.42905	T	0.14	.	10.001	0.41929	0.1676:0.0:0.8324:0.0	.	230	P0C862	C1T9A_HUMAN	K	230	ENSP00000371503:E230K;ENSP00000333737:E230K	ENSP00000333737:E230K	E	+	1	0	C1QTNF9	23793592	0.001000	0.12720	0.026000	0.17262	0.238000	0.25445	0.911000	0.28584	2.180000	0.69256	0.430000	0.28490	GAA		0.428	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		117	550	0	0	0	1	0	117	550				
FBXO10	26267	broad.mit.edu	37	9	37537896	37537896	+	Silent	SNP	G	G	A	rs573738932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37537896G>A	ENST00000432825.2	-	3	678	c.630C>T	c.(628-630)aaC>aaT	p.N210N	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	210					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGATGTGCCCGTTCTCAAAGT	0.498													g|||	1	0.000199681	0.0	0.0	5008	,	,		22045	0.001		0.0	False		,,,				2504	0.0					ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(628-630)aaC>aaT		F-box protein 10							82.0	83.0	83.0					9																	37537896		1941	4126	6067	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537896G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.630C>T	9.37:g.37537896G>A						RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	p.N210N	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	678	-			210					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.630C>T	CCDS47966.1																																																																																				0.498	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			10	475	0	0	0	1	0	10	475				
DYSF	8291	broad.mit.edu	37	2	71883410	71883410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71883410G>T	ENST00000258104.3	+	42	4905	c.4628G>T	c.(4627-4629)gGt>gTt	p.G1543V	DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V|DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1543			G -> D (in LGMD2B). {ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTGTGATTGGTGAATTTAAG	0.517																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM074150	DYSF	M		c.(4627-4629)gGt>gTt		dysferlin							257.0	251.0	253.0					2																	71883410		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883410G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4628G>T	2.37:g.71883410G>T	ENSP00000258104:p.Gly1543Val					DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V	p.G1543V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			42	4905	+			1543		G -> D (in LGMD2B).			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4628G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967841	0.74131	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.73;-2.69;-2.69;-2.69;-2.72;-2.73;-2.72;-2.67;-2.69;-2.69;-2.69	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.220575	0.47093	D	0.000249	D	0.96291	0.8790	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.997;0.998;1.0;0.998;1.0;0.999;0.998;1.0;0.995;0.997;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.988;0.962;0.978;0.988;0.962;0.991;0.993;0.991;0.997;0.978;0.993;0.993;0.962;0.962;0.917	D	0.96680	0.9503	10	0.72032	D	0.01	-37.0403	16.7046	0.85368	0.0:0.0:1.0:0.0	.	307;1575;1582;1565;1530;1561;1551;1560;1550;1574;1581;1564;1529;1544;1543	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1574;1560;1581;1564;1543;1575;1544;1551;1565;1582;1561	ENSP00000407046:G1574V;ENSP00000387137:G1560V;ENSP00000386547:G1581V;ENSP00000398305:G1564V;ENSP00000258104:G1543V;ENSP00000386683:G1575V;ENSP00000377678:G1544V;ENSP00000386285:G1551V;ENSP00000386512:G1565V;ENSP00000386881:G1582V;ENSP00000386617:G1561V	ENSP00000258104:G1543V	G	+	2	0	DYSF	71736918	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.524000	0.98036	2.804000	0.96469	0.655000	0.94253	GGT		0.517	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		395	1148	1	0	3.81505e-103	1	4.90782e-103	395	1148				
KIF6	221458	broad.mit.edu	37	6	39328261	39328261	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39328261G>A	ENST00000287152.7	-	18	2086	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000373213.4_Silent_p.I503I|KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000229913.5_Silent_p.I115I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	664					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCAAGTGCTCGATCTCCACCT	0.542																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1990-1992)atC>atT		kinesin family member 6							111.0	98.0	102.0					6																	39328261		2203	4300	6503	SO:0001819	synonymous_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39328261G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1992C>T	6.37:g.39328261G>A						KIF6_ENST00000229913.5_Silent_p.I115I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000373213.4_Silent_p.I503I|KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I	p.I664I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			18	2086	-			664					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1992C>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319264	0.23994	.	.	ENSG00000164627	ENST00000458470	.	.	.	4.47	-2.17	0.07059	.	.	.	.	.	T	0.30386	0.0763	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	4.6477	0.12580	0.3828:0.0:0.3915:0.2257	.	.	.	.	L	556	.	.	S	-	2	0	KIF6	39436239	0.245000	0.23899	0.965000	0.40720	0.997000	0.91878	-0.733000	0.04898	-0.816000	0.04340	0.462000	0.41574	TCG		0.542	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		95	304	0	0	0	1	0	95	304				
LRFN1	57622	broad.mit.edu	37	19	39805276	39805276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805276G>A	ENST00000248668.4	-	1	700	c.701C>T	c.(700-702)tCg>tTg	p.S234L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	234						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGCCCTGCGACCTCAGGAA	0.682																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(700-702)tCg>tTg		leucine rich repeat and fibronectin type III domain containing 1							23.0	28.0	26.0					19																	39805276		2114	4236	6350	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805276G>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.701C>T	19.37:g.39805276G>A	ENSP00000248668:p.Ser234Leu						p.S234L	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	700	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		234					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.701C>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118643	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.3	4.3	0.51218	.	0.200845	0.24848	N	0.035105	T	0.54515	0.1863	L	0.54323	1.7	0.32386	N	0.553962	B	0.17038	0.02	B	0.13407	0.009	T	0.56920	-0.7899	10	0.12766	T	0.61	.	14.2826	0.66224	0.0:0.0:1.0:0.0	.	234	Q9P244	LRFN1_HUMAN	L	234	ENSP00000248668:S234L	ENSP00000248668:S234L	S	-	2	0	LRFN1	44497116	1.000000	0.71417	0.987000	0.45799	0.754000	0.42855	5.523000	0.67099	2.234000	0.73211	0.491000	0.48974	TCG		0.682	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		32	100	0	0	0	1	0	32	100				
CELSR1	9620	broad.mit.edu	37	22	46931735	46931735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46931735C>T	ENST00000262738.3	-	1	1332	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	445	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGATGTACACGGTGGCCGTG	0.672																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1333-1335)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 1							61.0	37.0	45.0					22																	46931735		2198	4292	6490	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931735C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1333G>A	22.37:g.46931735C>T	ENSP00000262738:p.Val445Met					CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M	p.V445M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1332	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	445			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1333G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261258	0.80246	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.33216	1.42;1.42	4.8	4.8	0.61643	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	U	0.000025	T	0.68439	0.3001	H	0.95712	3.71	0.46774	D	0.999194	D	0.89917	1.0	D	0.91635	0.999	T	0.80346	-0.1421	10	0.87932	D	0	.	17.4763	0.87659	0.0:1.0:0.0:0.0	.	445	Q9NYQ6	CELR1_HUMAN	M	445	ENSP00000262738:V445M;ENSP00000379293:V445M	ENSP00000262738:V445M	V	-	1	0	CELSR1	45310399	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.498000	0.81546	2.218000	0.71995	0.462000	0.41574	GTG		0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		69	204	0	0	0	1	0	69	204				
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAAAGTAATTCGGGGGCTCTC	0.413																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(703-705)cGa>cAa		peroxidasin homolog (Drosophila)-like							96.0	90.0	92.0					8																	52384855		1837	4075	5912	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384855C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.704G>A	8.37:g.52384855C>T	ENSP00000348645:p.Arg235Gln					PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	p.R235Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			8	804	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	235			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.704G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	PXDNL	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		55	326	0	0	0	1	0	55	326				
CCBE1	147372	broad.mit.edu	37	18	57115222	57115222	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115222G>A	ENST00000439986.4	-	7	805	c.768C>T	c.(766-768)ggC>ggT	p.G256G	CCBE1_ENST00000398179.2_Missense_Mutation_p.A32V	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	256	Collagen-like 1.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CACCGGGAGGGCCCTGGCCCC	0.582																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000398179.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(94-96)gCc>gTc		collagen and calcium binding EGF domains 1							92.0	81.0	85.0					18																	57115222		2203	4300	6503	SO:0001819	synonymous_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57115222G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.768C>T	18.37:g.57115222G>A						CCBE1_ENST00000439986.4_Silent_p.G256G	p.A32V			Q6UXH8	CCBE1_HUMAN			5	557	-		Colorectal(73;0.175)	303					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.95C>T	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855409	0.32791	.	.	ENSG00000183287	ENST00000398179	D	0.84070	-1.8	5.62	2.72	0.32119	.	.	.	.	.	T	0.72471	0.3464	.	.	.	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.62886	-0.6759	8	0.66056	D	0.02	-24.2524	3.7746	0.08654	0.2623:0.0:0.5666:0.1711	.	32	Q6UXH8-2	.	V	32	ENSP00000381241:A32V	ENSP00000381241:A32V	A	-	2	0	CCBE1	55266202	0.996000	0.38824	1.000000	0.80357	0.688000	0.40055	0.196000	0.17176	0.746000	0.32786	0.591000	0.81541	GCC		0.582	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		102	464	0	0	0	1	0	102	464				
PROSER3	148137	broad.mit.edu	37	19	36253018	36253018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36253018C>A	ENST00000544099.1	+	4	473	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y|C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y			Q2NL68	PRSR3_HUMAN		137										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGTCTGACTCTCCAGACCCC	0.582																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(409-411)tCt>tAt		chromosome 19 open reading frame 55							36.0	40.0	38.0					19																	36253018		1962	4171	6133	SO:0001583	missense	148137							g.chr19:36253018C>A																												ENST00000544099.1:c.410C>A	19.37:g.36253018C>A	ENSP00000467267:p.Ser137Tyr					C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y|C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y	p.S137Y			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	473	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		137					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.410C>A		.	.	.	.	.	.	.	.	.	.	C	18.99	3.739653	0.69304	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.59	3.55	0.40652	.	0.191988	0.25885	N	0.027669	T	0.61173	0.2326	M	0.64997	1.995	0.09310	N	1	D;D;D	0.69078	0.994;0.997;0.997	P;D;D	0.80764	0.874;0.994;0.994	T	0.50709	-0.8796	10	0.62326	D	0.03	-2.4722	8.6048	0.33767	0.0:0.8937:0.0:0.1063	.	137;137;137	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	Y	52;137;137;52;52	ENSP00000394231:S52Y;ENSP00000380116:S137Y;ENSP00000301165:S137Y;ENSP00000440357:S52Y	ENSP00000301165:S137Y	S	+	2	0	C19orf55	40944858	0.000000	0.05858	0.004000	0.12327	0.583000	0.36354	0.394000	0.20834	1.266000	0.44231	0.650000	0.86243	TCT		0.582	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			38	161	1	0	7.04047e-22	1	7.94894e-22	38	161				
SYN3	8224	broad.mit.edu	37	22	33402568	33402568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33402568C>T	ENST00000358763.2	-	2	322	c.80G>A	c.(79-81)cGc>cAc	p.R27H	SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	27	A.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTATCTGGGCGTTGCAGGTC	0.592																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(79-81)cGc>cAc		synapsin III							105.0	110.0	108.0					22																	33402568		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402568C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.80G>A	22.37:g.33402568C>T	ENSP00000351614:p.Arg27His					SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	p.R27H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			2	322	-			27			A.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.80G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620197	0.66787	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.39229	1.09;1.09	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.63450	0.2512	M	0.62723	1.935	0.47547	D	0.999454	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.971;0.98	T	0.65932	-0.6048	10	0.66056	D	0.02	-4.6075	18.8654	0.92290	0.0:1.0:0.0:0.0	.	27;27;27	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	27	ENSP00000351614:R27H;ENSP00000330219:R27H	ENSP00000330219:R27H	R	-	2	0	SYN3	31732568	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.908000	0.69916	2.509000	0.84616	0.557000	0.71058	CGC		0.592	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			114	579	0	0	0	1	0	114	579				
PXDN	7837	broad.mit.edu	37	2	1653036	1653036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1653036G>A	ENST00000252804.4	-	17	2566	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	839					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAGAAGCGTGCCTGGCTCAG	0.652																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2515-2517)gCa>gTa		peroxidasin homolog (Drosophila)							39.0	42.0	41.0					2																	1653036		2196	4284	6480	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653036G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2516C>T	2.37:g.1653036G>A	ENSP00000252804:p.Ala839Val						p.A839V	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2566	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	839					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2516C>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351801	0.61183	.	.	ENSG00000130508	ENST00000252804	T	0.61392	0.11	5.18	4.28	0.50868	.	0.128490	0.53938	D	0.000048	T	0.51075	0.1653	L	0.41027	1.25	0.53005	D	0.999967	B	0.19445	0.036	B	0.31614	0.133	T	0.42361	-0.9456	10	0.18276	T	0.48	-36.1755	15.2212	0.73313	0.0:0.0:0.8581:0.1419	.	839	Q92626	PXDN_HUMAN	V	839	ENSP00000252804:A839V	ENSP00000252804:A839V	A	-	2	0	PXDN	1632043	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.797000	0.85911	1.276000	0.44395	0.558000	0.71614	GCA		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		43	122	0	0	0	1	0	43	122				
IQSEC1	9922	broad.mit.edu	37	3	12957129	12957129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12957129G>A	ENST00000273221.4	-	7	2383	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	723					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACCTTCTGCACCTGGGAC	0.602																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2167-2169)Cag>Tag		IQ motif and Sec7 domain 1							205.0	155.0	172.0					3																	12957129		2203	4300	6503	SO:0001587	stop_gained	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12957129G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2167C>T	3.37:g.12957129G>A	ENSP00000273221:p.Gln723*						p.Q723*	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			7	2383	-			723					O94863|Q96D85	Nonsense_Mutation	SNP	ENST00000273221.4	37	c.2167C>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.136507|8.136507	0.98672|0.98672	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.51702|.	0.1690|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48410|.	-0.9038|.	3|.	.|0.08599	.|T	.|0.76	.|.	17.6453|17.6453	0.88147|0.88147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	723|723;709;709	.|.	.|ENSP00000273221:Q723X	A|Q	-|-	2|1	0|0	IQSEC1|IQSEC1	12932129|12932129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.823000|7.823000	0.86660|0.86660	2.229000|2.229000	0.72834|0.72834	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.602	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		83	357	0	0	0	1	0	83	357				
PEAK1	79834	broad.mit.edu	37	15	77425553	77425553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77425553G>A	ENST00000560626.2	-	6	4346	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R1291*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1291					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGAAGGCTTCGGATTTTACCC	0.527																																						ENST00000560626.2																			0											c.(3871-3873)Cga>Tga		pseudopodium-enriched atypical kinase 1							150.0	148.0	148.0					15																	77425553		1893	4110	6003	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425553G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3871C>T	15.37:g.77425553G>A	ENSP00000452796:p.Arg1291*					PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R1291*	p.R1291*			Q9H792	PEAK1_HUMAN			6	4346	-			1291					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.3871C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.057542	0.99631	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-2.3873	15.2561	0.73585	0.0:0.0:0.8591:0.1409	.	.	.	.	X	1291	.	ENSP00000309230:R1291X	R	-	1	2	AC087465.1	75212608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.555000	0.60767	2.642000	0.89623	0.655000	0.94253	CGA		0.527	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			136	705	0	0	0	1	0	136	705				
CEP83	51134	broad.mit.edu	37	12	94725559	94725559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94725559G>T	ENST00000397809.5	-	14	2173	c.1624C>A	c.(1624-1626)Ctt>Att	p.L542I	CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		534					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CGCTCATGAAGCTTATGCTTT	0.378																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1624-1626)Ctt>Att		coiled-coil domain containing 41							274.0	242.0	252.0					12																	94725559		1893	4116	6009	SO:0001583	missense	51134							g.chr12:94725559G>T																												ENST00000397809.5:c.1624C>A	12.37:g.94725559G>T	ENSP00000380911:p.Leu542Ile					CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I	p.L542I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			14	2173	-			534					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1624C>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177979	0.38413	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809;ENST00000397807	T;T;T;T	0.62105	1.98;1.98;1.98;0.05	5.79	3.96	0.45880	.	.	.	.	.	T	0.47746	0.1462	L	0.42245	1.32	0.32867	D	0.508704	B;B	0.31193	0.312;0.141	B;B	0.29524	0.103;0.028	T	0.51284	-0.8725	9	0.10902	T	0.67	-6.9572	8.4164	0.32674	0.2343:0.0:0.7657:0.0	.	509;534	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	I	6;542;542;509	ENSP00000447094:L6I;ENSP00000344655:L542I;ENSP00000380911:L542I;ENSP00000380909:L509I	ENSP00000344655:L542I	L	-	1	0	CCDC41	93249690	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.990000	0.40717	1.459000	0.47892	0.655000	0.94253	CTT		0.378	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			145	584	1	0	1.91924e-68	1	2.4338e-68	145	584				
GPR12	2835	broad.mit.edu	37	13	27333552	27333552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333552C>T	ENST00000381436.2	-	1	875	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GPR12_ENST00000405846.3_Missense_Mutation_p.R138H			P47775	GPR12_HUMAN	G protein-coupled receptor 12	138					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGAGAGGTAGCGGTCAACAGT	0.552																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(412-414)cGc>cAc		G protein-coupled receptor 12							106.0	91.0	96.0					13																	27333552		2203	4300	6503	SO:0001583	missense	0					integral to plasma membrane		g.chr13:27333552C>T	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.413G>A	13.37:g.27333552C>T	ENSP00000370844:p.Arg138His					GPR12_ENST00000381436.2_Missense_Mutation_p.R138H	p.R138H	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	634	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	138					Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.413G>A	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992314	0.93167	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	D;D	0.97161	-4.27;-4.27	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99094	1.0841	10	0.87932	D	0	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	138	P47775	GPR12_HUMAN	H	138	ENSP00000384932:R138H;ENSP00000370844:R138H	ENSP00000370844:R138H	R	-	2	0	GPR12	26231552	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	CGC		0.552	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			67	279	0	0	0	1	0	67	279				
VPS39	23339	broad.mit.edu	37	15	42481361	42481361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42481361G>T	ENST00000348544.4	-	6	325	c.326C>A	c.(325-327)aCt>aAt	p.T109N	VPS39_ENST00000318006.5_Missense_Mutation_p.T98N|VPS39_ENST00000568357.1_5'Flank			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	109	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAAACCGTAGTGATTTGTTG	0.368																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(292-294)aCt>aAt		vacuolar protein sorting 39 homolog (S. cerevisiae)							211.0	176.0	188.0					15																	42481361		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42481361G>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.326C>A	15.37:g.42481361G>T	ENSP00000335193:p.Thr109Asn					VPS39_ENST00000348544.4_Missense_Mutation_p.T109N	p.T98N	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	455	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	109			CNH.		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.293C>A	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896044	0.72639	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04654	3.58;3.58	5.92	5.92	0.95590	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.54323	1.7	0.80722	D	1	P;P	0.45428	0.642;0.858	B;B	0.41666	0.288;0.363	T	0.42498	-0.9448	10	0.14252	T	0.57	-13.9161	20.3343	0.98733	0.0:0.0:1.0:0.0	.	109;98	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	N	98;109	ENSP00000326534:T98N;ENSP00000335193:T109N	ENSP00000326534:T98N	T	-	2	0	VPS39	40268653	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.618000	0.98365	2.822000	0.97130	0.650000	0.86243	ACT		0.368	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		74	311	1	0	1.10345e-40	1	1.33888e-40	74	311				
PRRC2B	84726	broad.mit.edu	37	9	134350717	134350717	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134350717G>T	ENST00000357304.4	+	15	3256	c.3201G>T	c.(3199-3201)cgG>cgT	p.R1067R	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1067							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCCGGGGCCGGGGCCGTGGTT	0.612																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3199-3201)cgG>cgT		proline-rich coiled-coil 2B							21.0	25.0	24.0					9																	134350717		1850	4085	5935	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134350717G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3201G>T	9.37:g.134350717G>T						PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	p.R1067R	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3256	+			1067					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.3201G>T	CCDS48044.1																																																																																				0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	210	1	0	0.00116845	1	0.00118049	6	210				
PLEKHM3	389072	broad.mit.edu	37	2	208841720	208841720	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208841720G>T	ENST00000427836.2	-	3	1690	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.P401T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P401T	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	401	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCAACAGTGGATCCTCGTCT	0.507																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1201-1203)Cca>Aca		pleckstrin homology domain containing, family M, member 3							59.0	62.0	61.0					2																	208841720		2036	4190	6226	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208841720G>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1201C>A	2.37:g.208841720G>T	ENSP00000417003:p.Pro401Thr					PLEKHM3_ENST00000427836.2_Missense_Mutation_p.P401T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P401T	p.P401T			Q6ZWE6	PKHM3_HUMAN			3	1628	-			401			PH 2.		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1201C>A	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.370651|3.370651	0.61624|0.61624	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	T;T;T|.	0.15834|.	2.39;2.39;2.39|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69106|0.69106	0.3074|0.3074	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.63075|0.63075	-0.6718|-0.6718	10|5	0.59425|.	D|.	0.04|.	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	401;401|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	T|Y	401|152	ENSP00000417003:P401T;ENSP00000373899:P401T;ENSP00000400150:P401T|.	ENSP00000373899:P401T|.	P|S	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208549965|208549965	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.347000|0.347000	0.29111|0.29111	7.103000|7.103000	0.77014|0.77014	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.507	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		8	244	1	0	5.18039e-06	1	5.32547e-06	8	244				
RGS12	6002	broad.mit.edu	37	4	3317942	3317942	+	Silent	SNP	G	G	A	rs377043527		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3317942G>A	ENST00000344733.5	+	2	949	c.45G>A	c.(43-45)ccG>ccA	p.P15P	RGS12_ENST00000382788.3_Silent_p.P15P|RGS12_ENST00000543385.1_Silent_p.P15P|RGS12_ENST00000336727.3_Silent_p.P15P	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	15					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCTGGGCCGTCGCCCCCAA	0.602																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(43-45)ccG>ccA		regulator of G-protein signaling 12		G	,	0,4404		0,0,2202	67.0	81.0	76.0		45,45	-2.5	0.0	4		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS12	NM_002926.3,NM_198229.2	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	15/1377,15/1448	3317942	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3317942G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.45G>A	4.37:g.3317942G>A						RGS12_ENST00000382788.3_Silent_p.P15P|RGS12_ENST00000344733.5_Silent_p.P15P|RGS12_ENST00000543385.1_Silent_p.P15P	p.P15P	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	949	+			15					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.45G>A	CCDS3366.1																																																																																				0.602	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		148	634	0	0	0	1	0	148	634				
PRKRIR	5612	broad.mit.edu	37	11	76063238	76063238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063238C>T	ENST00000260045.3	-	5	1061	c.956G>A	c.(955-957)gGa>gAa	p.G319E	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	319					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATATTTAATCCCCACTTCTC	0.383																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(955-957)gGa>gAa		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							41.0	43.0	42.0					11																	76063238		2138	4178	6316	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063238C>T	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.956G>A	11.37:g.76063238C>T	ENSP00000260045:p.Gly319Glu						p.G319E	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1061	-			319					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.956G>A	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662339	0.67700	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.27256	1.68;1.68	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.56335	-0.7996	10	0.51188	T	0.08	.	18.3441	0.90315	0.0:1.0:0.0:0.0	.	319	O43422	P52K_HUMAN	E	144;319	ENSP00000436249:G144E;ENSP00000260045:G319E	ENSP00000260045:G319E	G	-	2	0	PRKRIR	75740886	1.000000	0.71417	0.945000	0.38365	0.604000	0.37047	5.409000	0.66374	2.416000	0.81992	0.644000	0.83932	GGA		0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		21	580	0	0	0	1	0	21	580				
KHDC3L	154288	broad.mit.edu	37	6	74072979	74072979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74072979C>T	ENST00000370367.3	+	2	384	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	111							RNA binding (GO:0003723)										TGACTATCACCGCCAGCTCCA	0.577																																						ENST00000370367.3																			0											c.(331-333)Cgc>Tgc		KH domain containing 3-like, subcortical maternal complex member							82.0	79.0	80.0					6																	74072979		2203	4300	6503	SO:0001583	missense	154288							g.chr6:74072979C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.331C>T	6.37:g.74072979C>T	ENSP00000359392:p.Arg111Cys						p.R111C	NM_001017361.2	NP_001017361.1					2	384	+								B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.331C>T	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970233	0.34754	.	.	ENSG00000203908	ENST00000370367	T	0.55588	0.51	3.52	1.73	0.24493	.	0.000000	0.44483	D	0.000443	T	0.47266	0.1436	L	0.55743	1.74	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.29088	-1.0023	10	0.56958	D	0.05	-14.0054	5.7963	0.18389	0.0:0.7552:0.0:0.2448	.	111	Q587J8	ECAT1_HUMAN	C	111	ENSP00000359392:R111C	ENSP00000359392:R111C	R	+	1	0	C6orf221	74129700	0.175000	0.23083	0.055000	0.19348	0.004000	0.04260	0.840000	0.27600	0.497000	0.27926	-0.136000	0.14681	CGC		0.577	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		11	522	0	0	0	1	0	11	522				
NEBL	10529	broad.mit.edu	37	10	21178809	21178809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21178809T>G	ENST00000377122.4	-	3	619	c.223A>C	c.(223-225)Aac>Cac	p.N75H	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	75				N -> T (in Ref. 2; AAF24858). {ECO:0000305}.	cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTACATGGTTTAGCATAGGA	0.313																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(223-225)Aac>Cac		nebulette							98.0	100.0	100.0					10																	21178809		2202	4300	6502	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21178809T>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.223A>C	10.37:g.21178809T>G	ENSP00000366326:p.Asn75His					NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H|NEBL_ENST00000417816.2_Intron	p.N75H	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			3	619	-			75	N -> T (in Ref. 2; AAF24858).				B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.223A>C	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254167	0.80135	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.32272	1.46;1.46;1.46	6.17	6.17	0.99709	.	0.317378	0.35067	N	0.003462	T	0.40448	0.1117	L	0.44542	1.39	0.80722	D	1	D	0.53151	0.958	P	0.53146	0.719	T	0.08868	-1.0701	10	0.44086	T	0.13	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	75	O76041	NEBL_HUMAN	H	75;75;59	ENSP00000366326:N75H;ENSP00000366323:N75H;ENSP00000396512:N59H	ENSP00000366323:N75H	N	-	1	0	NEBL	21218815	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.617000	0.54181	2.371000	0.80710	0.533000	0.62120	AAC		0.313	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		58	273	0	0	0	1	0	58	273				
SZT2	23334	broad.mit.edu	37	1	43912779	43912779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43912779C>T	ENST00000562955.1	+	65	9055	c.9055C>T	c.(9055-9057)Cga>Tga	p.R3019*	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Nonsense_Mutation_p.R2177*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3076					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACCTTTCTGCGACACTTCCT	0.582																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(9055-9057)Cga>Tga		seizure threshold 2 homolog (mouse)							132.0	91.0	105.0					1																	43912779		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43912779C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9055C>T	1.37:g.43912779C>T	ENSP00000457168:p.Arg3019*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.R2177*	p.R3019*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			65	9055	+			3076					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.9055C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	49	15.568687	0.99838	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.43	3.5	0.40072	.	0.394513	0.28706	N	0.014420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	10.1138	0.42579	0.2329:0.5971:0.17:0.0	.	.	.	.	X	2177	.	ENSP00000361519:R2177X	R	+	1	2	SZT2	43685366	1.000000	0.71417	0.801000	0.32222	0.998000	0.95712	3.002000	0.49496	0.717000	0.32145	0.655000	0.94253	CGA		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		14	100	0	0	0	1	0	14	100				
ZSCAN9	7746	broad.mit.edu	37	6	28195016	28195016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28195016C>T	ENST00000252207.5	+	2	302	c.154C>T	c.(154-156)Cga>Tga	p.R52*	ZSCAN9_ENST00000531981.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000531979.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000527436.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000425468.2_Nonsense_Mutation_p.R52*	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	52	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGAAATCTTCCGAAGGCACTT	0.498																																						ENST00000527436.1																			0											c.(154-156)Cga>Tga		zinc finger and SCAN domain containing 9							75.0	69.0	71.0					6																	28195016		2203	4300	6503	SO:0001587	stop_gained	7746							g.chr6:28195016C>T	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.154C>T	6.37:g.28195016C>T	ENSP00000252207:p.Arg52*					ZSCAN9_ENST00000531979.1_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000425468.2_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000252207.5_Nonsense_Mutation_p.R52*|ZSCAN9_ENST00000531981.1_Nonsense_Mutation_p.R52*	p.R52*							2	255	+								B4E1W6|E7EVQ2|Q2TTR1	Nonsense_Mutation	SNP	ENST00000252207.5	37	c.154C>T	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563399	0.65651	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	.	.	.	3.07	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2508	0.15521	0.0:0.7216:0.0:0.2784	.	.	.	.	X	52	.	ENSP00000252207:R52X	R	+	1	2	ZNF193	28302995	0.261000	0.24063	0.450000	0.26969	0.958000	0.62258	0.665000	0.25083	0.323000	0.23307	-0.258000	0.10820	CGA		0.498	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		47	234	0	0	0	1	0	47	234				
WAC	51322	broad.mit.edu	37	10	28878779	28878779	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878779A>C	ENST00000354911.4	+	5	657	c.496A>C	c.(496-498)Aga>Cga	p.R166R	WAC_ENST00000375664.4_Splice_Site_p.R121R|WAC_ENST00000428935.1_Splice_Site_p.R121R|WAC_ENST00000375646.1_Splice_Site_p.R121R|WAC_ENST00000347934.4_Splice_Site_p.R166R	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	166					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GTGGCTTGAAAGGTAATTAGC	0.323																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.e5+1		WW domain containing adaptor with coiled-coil							60.0	65.0	63.0					10																	28878779		2203	4299	6502	SO:0001630	splice_region_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28878779A>C	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.497+1A>C	10.37:g.28878779A>C						WAC_ENST00000428935.1_Splice_Site_p.R121_splice|WAC_ENST00000347934.4_Splice_Site_p.R166_splice|WAC_ENST00000375646.1_Splice_Site_p.R121_splice|WAC_ENST00000354911.4_Splice_Site_p.R166_splice	p.R121_splice			Q9BTA9	WAC_HUMAN			5	970	+			166					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Splice_Site	SNP	ENST00000354911.4	37	c.362_splice	CCDS7159.1																																																																																				0.323	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	Silent	54	218	0	0	0	1	0	54	218				
PRR14	78994	broad.mit.edu	37	16	30666370	30666370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666370G>A	ENST00000542965.2	+	7	1535	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	360	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCACGGCCGCGGCGGCACACT	0.701																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1078-1080)cGg>cAg		proline rich 14							24.0	30.0	28.0					16																	30666370		2192	4295	6487	SO:0001583	missense	78994							g.chr16:30666370G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1079G>A	16.37:g.30666370G>A	ENSP00000441641:p.Arg360Gln					PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q|PRR14_ENST00000571654.1_Intron	p.R360Q			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1535	+			360			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1079G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575059	0.86542	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.52057	0.68;0.68	5.37	5.37	0.77165	.	0.457720	0.20325	N	0.094558	T	0.67078	0.2855	M	0.67953	2.075	0.33381	D	0.574913	D	0.89917	1.0	D	0.83275	0.996	T	0.73594	-0.3933	10	0.42905	T	0.14	-12.9856	16.0349	0.80617	0.0:0.0:1.0:0.0	.	360	Q9BWN1	PRR14_HUMAN	Q	333;360;360	ENSP00000300835:R360Q;ENSP00000441641:R360Q	ENSP00000287463:R333Q	R	+	2	0	PRR14	30573871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.502000	0.66956	2.507000	0.84556	0.563000	0.77884	CGG		0.701	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		88	339	0	0	0	1	0	88	339				
TLE2	7089	broad.mit.edu	37	19	3006594	3006594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3006594C>T	ENST00000262953.6	-	15	1586	c.1324G>A	c.(1324-1326)Gcg>Acg	p.A442T	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000426948.2_Missense_Mutation_p.A456T|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	442					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCCCGCGCCTACCAGT	0.682																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1324-1326)Gcg>Acg		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							13.0	18.0	17.0					19																	3006594		2075	4203	6278	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3006594C>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1324G>A	19.37:g.3006594C>T	ENSP00000262953:p.Ala442Thr					TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.A456T	p.A442T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1586	-			442					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.1324G>A	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729813	0.48833	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	3.87	-0.643	0.11482	WD40 repeat-like-containing domain (1);	0.333784	0.33496	N	0.004855	T	0.03827	0.0108	N	0.15975	0.35	0.26651	N	0.972095	B;B;B;B;B;B	0.29716	0.255;0.001;0.003;0.003;0.001;0.001	B;B;B;B;B;B	0.15484	0.013;0.0;0.002;0.003;0.0;0.0	T	0.30238	-0.9985	10	0.52906	T	0.07	-20.3281	1.0155	0.01506	0.1583:0.2763:0.1551:0.4103	.	350;320;109;456;320;442	B4DZU9;E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;.;TLE2_HUMAN	T	442;320;436;109;320;456;350	ENSP00000262953:A442T;ENSP00000413107:A320T;ENSP00000406523:A109T;ENSP00000392427:A320T;ENSP00000392869:A456T	ENSP00000262953:A442T	A	-	1	0	TLE2	2957594	0.965000	0.33210	0.620000	0.29132	0.832000	0.47134	0.456000	0.21859	0.086000	0.17137	0.456000	0.33151	GCG		0.682	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		16	69	0	0	0	1	0	16	69				
LCP1	3936	broad.mit.edu	37	13	46716542	46716542	+	Missense_Mutation	SNP	C	C	T	rs541702713		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46716542C>T	ENST00000398576.2	-	16	1775	c.1387G>A	c.(1387-1389)Gcg>Acg	p.A463T	LCP1_ENST00000323076.2_Missense_Mutation_p.A463T|LCP1_ENST00000435666.2_Missense_Mutation_p.A32T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	463	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AATTCTACCGCGTAGTTACAA	0.388			T	BCL6	NHL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17376	0.0		0.0	False		,,,				2504	0.0					ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1387-1389)Gcg>Acg		lymphocyte cytosolic protein 1 (L-plastin)							129.0	109.0	116.0					13																	46716542		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46716542C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1387G>A	13.37:g.46716542C>T	ENSP00000381581:p.Ala463Thr					LCP1_ENST00000323076.2_Missense_Mutation_p.A463T|LCP1_ENST00000435666.2_Missense_Mutation_p.A32T	p.A463T			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	16	1775	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	463			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1387G>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392492	0.83011	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.97089	-4.24;-4.24;-4.24	5.64	5.64	0.86602	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.97110	0.903;1.0	D	0.98678	1.0691	10	0.45353	T	0.12	-15.0268	18.6878	0.91571	0.0:1.0:0.0:0.0	.	32;463	B4DUA0;P13796	.;PLSL_HUMAN	T	463;463;32	ENSP00000315757:A463T;ENSP00000381581:A463T;ENSP00000405134:A32T	ENSP00000315757:A463T	A	-	1	0	LCP1	45614543	1.000000	0.71417	0.994000	0.49952	0.261000	0.26267	7.818000	0.86416	2.662000	0.90505	0.655000	0.94253	GCG		0.388	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		84	322	0	0	0	1	0	84	322				
NFYC	4802	broad.mit.edu	37	1	41223914	41223914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41223914C>T	ENST00000308733.5	+	5	515	c.509C>T	c.(508-510)aCg>aTg	p.T170M	NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M|NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|NFYC_ENST00000456393.2_Missense_Mutation_p.T170M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	170					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACCAGCTCCACGACCACCATC	0.617																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(508-510)aCg>aTg		nuclear transcription factor Y, gamma							54.0	49.0	51.0					1																	41223914		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41223914C>T	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.509C>T	1.37:g.41223914C>T	ENSP00000312617:p.Thr170Met					NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M|NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000308733.5_Missense_Mutation_p.T170M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|NFYC_ENST00000456393.2_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M	p.T170M			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		6	777	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	170					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.509C>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.162681	0.78226	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T	0.43688	1.0;1.0;1.0;1.0;1.0;0.94;1.0;1.0;1.0;1.0;1.5;1.0	5.6	5.6	0.85130	.	0.094419	0.64402	D	0.000001	T	0.56124	0.1964	L	0.36672	1.1	0.54753	D	0.999982	D;D;D;D;D;D;D;D	0.89917	0.99;0.997;1.0;0.983;1.0;0.99;0.99;1.0	P;P;D;B;D;P;P;D	0.79784	0.725;0.855;0.926;0.321;0.951;0.725;0.725;0.993	T	0.56426	-0.7981	10	0.62326	D	0.03	.	17.0961	0.86635	0.0:1.0:0.0:0.0	.	132;76;170;170;170;170;170;170	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	M	132;170;170;170;68;68;170;170;170;170;170;170;138;170	ENSP00000408315:T132M;ENSP00000404427:T170M;ENSP00000396620:T170M;ENSP00000408867:T170M;ENSP00000361738:T170M;ENSP00000361737:T170M;ENSP00000361754:T170M;ENSP00000361736:T170M;ENSP00000361734:T170M;ENSP00000414299:T170M;ENSP00000409219:T138M;ENSP00000312617:T170M	ENSP00000312617:T170M	T	+	2	0	NFYC	40996501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.653000	0.90120	0.561000	0.74099	ACG		0.617	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		9	194	0	0	0	1	0	9	194				
AMOTL1	154810	broad.mit.edu	37	11	94602523	94602523	+	Silent	SNP	C	C	T	rs574065556		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94602523C>T	ENST00000433060.2	+	12	2790	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	AMOTL1_ENST00000317829.8_Silent_p.A833A|AMOTL1_ENST00000317837.9_Silent_p.A470A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	883					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACAAGAGTGCCGAGCTCTTCT	0.652																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(2647-2649)gcC>gcT		angiomotin like 1							34.0	44.0	41.0					11																	94602523		2170	4276	6446	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94602523C>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2649C>T	11.37:g.94602523C>T						AMOTL1_ENST00000317829.8_Silent_p.A833A|AMOTL1_ENST00000317837.9_Silent_p.A470A	p.A883A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			12	2790	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	883					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.2649C>T	CCDS44712.1																																																																																				0.652	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		11	84	0	0	0	1	0	11	84				
CCDC64	92558	broad.mit.edu	37	12	120502561	120502561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120502561C>T	ENST00000397558.2	+	4	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	263					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATCGGAAACGGGAGCTGGA	0.567																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(787-789)Cgg>Tgg		coiled-coil domain containing 64							106.0	109.0	108.0					12																	120502561		1967	4143	6110	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120502561C>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.787C>T	12.37:g.120502561C>T	ENSP00000380690:p.Arg263Trp					CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	p.R263W	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			4	787	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		263					A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.787C>T	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584929	0.86748	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727	T;T	0.78924	-1.22;1.4	5.52	5.52	0.82312	.	0.295893	0.32258	N	0.006347	T	0.80747	0.4682	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.52514	0.653;0.701	T	0.82396	-0.0478	10	0.66056	D	0.02	-16.1118	19.4454	0.94844	0.0:1.0:0.0:0.0	.	7;263	B4DNE7;Q6ZP65	.;BICR1_HUMAN	W	244;263;7	ENSP00000380690:R263W;ENSP00000399658:R7W	ENSP00000349605:R244W	R	+	1	2	CCDC64	118986944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.209000	0.42806	2.586000	0.87340	0.655000	0.94253	CGG		0.567	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		120	517	0	0	0	1	0	120	517				
PAX5	5079	broad.mit.edu	37	9	37015015	37015015	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37015015G>T	ENST00000358127.4	-	3	463	c.389C>A	c.(388-390)cCt>cAt	p.P130H	PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.P22H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	130	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ACTGACGCTAGGCACGGTGTC	0.567			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(388-390)cCt>cAt		paired box 5							180.0	166.0	171.0					9																	37015015		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015015G>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.389C>A	9.37:g.37015015G>T	ENSP00000350844:p.Pro130His					PAX5_ENST00000522003.1_Missense_Mutation_p.P22H|PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H	p.P130H	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	463	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	130			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.389C>A	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922520	0.92319	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	5.5	5.5	0.81552	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.056939	0.64402	D	0.000001	D	0.99857	0.9933	H	0.97291	3.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.985;0.998;0.999;0.997;0.998;0.998;0.998	D	0.96755	0.9557	10	0.87932	D	0	.	19.8015	0.96509	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130;130	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	H	130;22;130;130;130;130;130;22;22;130;130	ENSP00000350844:P130H;ENSP00000367084:P130H;ENSP00000367083:P130H;ENSP00000429637:P130H;ENSP00000429291:P130H;ENSP00000430773:P130H;ENSP00000429359:P22H;ENSP00000429197:P22H;ENSP00000412188:P130H;ENSP00000367078:P130H	ENSP00000350844:P130H	P	-	2	0	PAX5	37005015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.749000	0.94314	0.650000	0.86243	CCT		0.567	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			26	1081	1	0	7.33628e-21	1	8.23749e-21	26	1081				
RBM44	375316	broad.mit.edu	37	2	238726960	238726960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238726960G>A	ENST00000409864.1	+	3	1655	c.1401G>A	c.(1399-1401)caG>caA	p.Q467Q	RBM44_ENST00000316997.4_Silent_p.Q467Q|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	466						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAATTAATCAGACAGTGGACG	0.398																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1399-1401)caG>caA		RNA binding motif protein 44							101.0	94.0	96.0					2																	238726960		1946	4133	6079	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238726960G>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1401G>A	2.37:g.238726960G>A						RBM44_ENST00000409864.1_Silent_p.Q467Q|RBM44_ENST00000444524.2_Intron	p.Q467Q	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1533	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	466					A0AUW3	Silent	SNP	ENST00000409864.1	37	c.1401G>A	CCDS46554.1																																																																																				0.398	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		77	220	0	0	0	1	0	77	220				
TSEN54	283989	broad.mit.edu	37	17	73512857	73512857	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73512857G>A	ENST00000333213.6	+	2	123	c.87G>A	c.(85-87)cgG>cgA	p.R29R	TSEN54_ENST00000580013.1_3'UTR|CASKIN2_ENST00000581870.1_5'Flank|CASKIN2_ENST00000321617.3_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	29					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCGCTCGCGGTCGCAGAAGC	0.771																																						ENST00000333213.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13						c.(85-87)cgG>cgA		TSEN54 tRNA splicing endonuclease subunit							7.0	9.0	8.0					17																	73512857		1419	3248	4667	SO:0001819	synonymous_variant	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73512857G>A	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.87G>A	17.37:g.73512857G>A						TSEN54_ENST00000580013.1_3'UTR	p.R29R	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	123	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		29					Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	ENST00000333213.6	37	c.87G>A	CCDS11724.1																																																																																				0.771	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		7	97	0	0	0	1	0	7	97				
MAP7D2	256714	broad.mit.edu	37	X	20134917	20134917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20134917G>A	ENST00000379651.3	-	1	99	c.81C>T	c.(79-81)atC>atT	p.I27I	MAP7D2_ENST00000452324.3_5'Flank|MAP7D2_ENST00000443379.3_Silent_p.I27I|MAP7D2_ENST00000379643.5_Silent_p.I27I	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	27					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCGGTTCTGCGATCTTCCCTG	0.716																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(79-81)atC>atT		MAP7 domain containing 2							17.0	18.0	18.0					X																	20134917		2200	4291	6491	SO:0001819	synonymous_variant	256714							g.chrX:20134917G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.81C>T	X.37:g.20134917G>A						MAP7D2_ENST00000379643.5_Silent_p.I27I|MAP7D2_ENST00000443379.3_Silent_p.I27I	p.I27I	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			1	99	-			27					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.81C>T	CCDS14195.1																																																																																				0.716	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		27	50	0	0	0	1	0	27	50				
AMHR2	269	broad.mit.edu	37	12	53823984	53823984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823984C>T	ENST00000257863.4	+	10	1423	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AMHR2_ENST00000550311.1_Silent_p.L447L|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in PMDS2). {ECO:0000269|PubMed:8872466}.		Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1342-1344)cCt>cTt		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						251.0	214.0	226.0					12																	53823984		2203	4300	6503	SO:0001583	missense	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823984C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1343C>T	12.37:g.53823984C>T	ENSP00000257863:p.Pro448Leu					AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Silent_p.L447L	p.P448L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			10	1423	+			448		Missing (in PMDS2).	Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1343C>T	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034635	0.75617	.	.	ENSG00000135409	ENST00000257863	T	0.65178	-0.14	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39020	N	0.001489	T	0.79423	0.4443	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81415	-0.0943	9	0.87932	D	0	.	15.8836	0.79222	0.0:1.0:0.0:0.0	.	448	Q16671	AMHR2_HUMAN	L	448	ENSP00000257863:P448L	ENSP00000257863:P448L	P	+	2	0	AMHR2	52110251	0.997000	0.39634	0.542000	0.28115	0.552000	0.35366	5.059000	0.64306	2.822000	0.97130	0.557000	0.71058	CCT		0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		284	1052	0	0	0	1	0	284	1052				
MIS18BP1	55320	broad.mit.edu	37	14	45679599	45679599	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45679599G>T	ENST00000310806.4	-	14	3594	c.3136C>A	c.(3136-3138)Cta>Ata	p.L1046I		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1046					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATAGAACCTAGCATGCCAGGA	0.358																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(3136-3138)Cta>Ata		MIS18 binding protein 1							124.0	109.0	114.0					14																	45679599		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45679599G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3136C>A	14.37:g.45679599G>T	ENSP00000309790:p.Leu1046Ile						p.L1046I	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			14	3594	-			1046					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.3136C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808888	0.70797	.	.	ENSG00000129534	ENST00000310806	T	0.53640	0.61	5.64	4.72	0.59763	.	0.062950	0.64402	D	0.000005	T	0.67562	0.2906	M	0.78049	2.395	0.40652	D	0.98204	D	0.89917	1.0	D	0.75484	0.986	T	0.72544	-0.4261	10	0.87932	D	0	-11.476	11.9019	0.52688	0.0901:0.0:0.9099:0.0	.	1046	Q6P0N0	M18BP_HUMAN	I	1046	ENSP00000309790:L1046I	ENSP00000309790:L1046I	L	-	1	2	MIS18BP1	44749349	1.000000	0.71417	0.989000	0.46669	0.825000	0.46686	3.040000	0.49799	1.282000	0.44496	0.563000	0.77884	CTA		0.358	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			6	300	1	0	3.59834e-05	1	3.67436e-05	6	300				
STAC2	342667	broad.mit.edu	37	17	37371375	37371375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37371375C>T	ENST00000333461.5	-	5	1064	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	232					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.S232N(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCATACCAGGCTCCTTGTCGG	0.617																																						ENST00000333461.5																			1	Substitution - Missense(1)	p.S232N(1)	large_intestine(1)	NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(694-696)aGc>aAc		SH3 and cysteine rich domain 2							89.0	90.0	89.0					17																	37371375		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37371375C>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.695G>A	17.37:g.37371375C>T	ENSP00000327509:p.Ser232Asn						p.S232N	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			5	1064	-			232					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.695G>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.281530	0.59758	.	.	ENSG00000141750	ENST00000333461	D	0.81579	-1.51	4.83	3.84	0.44239	.	0.464554	0.23409	N	0.048484	T	0.72455	0.3462	N	0.24115	0.695	0.44918	D	0.997938	B	0.32245	0.361	B	0.37943	0.261	T	0.71041	-0.4707	10	0.46703	T	0.11	-10.2716	13.8386	0.63424	0.0:0.8449:0.1551:0.0	.	232	Q6ZMT1	STAC2_HUMAN	N	232	ENSP00000327509:S232N	ENSP00000327509:S232N	S	-	2	0	STAC2	34624901	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	4.916000	0.63362	0.996000	0.38943	0.511000	0.50034	AGC		0.617	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		86	382	0	0	0	1	0	86	382				
HTR5A	3361	broad.mit.edu	37	7	154863212	154863212	+	Silent	SNP	C	C	T	rs367906443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863212C>T	ENST00000287907.2	+	1	1179	c.603C>T	c.(601-603)gcC>gcT	p.A201A	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	201					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTTCCTACGCCGTGTTCTCCA	0.612																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(601-603)gcC>gcT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled		C		1,4405	2.1+/-5.4	0,1,2202	85.0	71.0	76.0		603	0.6	1.0	7		76	0,8600		0,0,4300	no	coding-synonymous	HTR5A	NM_024012.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		201/358	154863212	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863212C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.603C>T	7.37:g.154863212C>T						AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.A201A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1179	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	201					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.603C>T	CCDS5936.1																																																																																				0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		32	175	0	0	0	1	0	32	175				
DSCC1	79075	broad.mit.edu	37	8	120855987	120855987	+	Splice_Site	SNP	C	C	A	rs376874066		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855987C>A	ENST00000313655.4	-	5	792	c.578G>T	c.(577-579)gGt>gTt	p.G193V		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	193					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTCCAATAACCTACAAATTT	0.363																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.e5-1		DNA replication and sister chromatid cohesion 1							85.0	96.0	92.0					8																	120855987		2203	4300	6503	SO:0001630	splice_region_variant	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120855987C>A		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.578-1G>T	8.37:g.120855987C>A							p.G193_splice	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	792	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		193					Q969N5	Splice_Site	SNP	ENST00000313655.4	37	c.577_splice	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312999	0.81358	.	.	ENSG00000136982	ENST00000313655	T	0.67865	-0.29	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87853	0.2659	10	0.87932	D	0	.	19.3011	0.94144	0.0:1.0:0.0:0.0	.	193	Q9BVC3	DCC1_HUMAN	V	193	ENSP00000322180:G193V	ENSP00000322180:G193V	G	-	2	0	DSCC1	120925168	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.560000	0.82277	2.642000	0.89623	0.650000	0.86243	GGT		0.363	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094	Missense_Mutation	97	490	1	0	2.1089e-46	1	2.5903e-46	97	490				
TMEM150B	284417	broad.mit.edu	37	19	55824302	55824302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55824302G>T	ENST00000326652.4	-	8	809	c.627C>A	c.(625-627)tgC>tgA	p.C209*	CTD-2105E13.14_ENST00000596786.1_RNA|TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	209						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CACACAGGGTGCAGCTCTCCA	0.692																																						ENST00000326652.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(625-627)tgC>tgA		transmembrane protein 150B							24.0	29.0	27.0					19																	55824302		2135	4248	6383	SO:0001587	stop_gained	284417					integral to membrane		g.chr19:55824302G>T	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.627C>A	19.37:g.55824302G>T	ENSP00000320757:p.Cys209*					TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*	p.C209*			A6NC51	T150B_HUMAN			8	809	-			209					B7ZW71	Nonsense_Mutation	SNP	ENST00000326652.4	37	c.627C>A	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839759	0.51057	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	.	.	.	4.55	2.4	0.29515	.	0.319446	0.33854	N	0.004487	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-31.8358	7.383	0.26866	0.2106:0.0:0.7894:0.0	.	.	.	.	X	209	.	ENSP00000320757:C209X	C	-	3	2	TMEM150B	60516114	0.498000	0.26075	0.996000	0.52242	0.190000	0.23558	0.360000	0.20250	0.622000	0.30249	-0.350000	0.07774	TGC		0.692	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		24	93	1	0	2.32416e-17	1	2.56562e-17	24	93				
SAMHD1	25939	broad.mit.edu	37	20	35563450	35563450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563450C>T	ENST00000262878.4	-	4	690	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	164	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATGCTCAAATCGATTGTGTGA	0.428																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(490-492)cGa>cAa		SAM domain and HD domain 1							116.0	108.0	110.0					20																	35563450		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35563450C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.491G>A	20.37:g.35563450C>T	ENSP00000262878:p.Arg164Gln					SAMHD1_ENST00000373694.5_5'UTR	p.R164Q	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			4	690	-		Myeloproliferative disorder(115;0.00878)	164			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.491G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808521	0.96967	.	.	ENSG00000101347	ENST00000262878	D	0.99936	-8.3	6.05	6.05	0.98169	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96570	0.9422	10	0.87932	D	0	-14.9894	20.6013	0.99457	0.0:1.0:0.0:0.0	.	164	Q9Y3Z3	SAMH1_HUMAN	Q	164	ENSP00000262878:R164Q	ENSP00000262878:R164Q	R	-	2	0	SAMHD1	34996864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	CGA		0.428	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		92	313	0	0	0	1	0	92	313				
PLEKHG1	57480	broad.mit.edu	37	6	151125824	151125824	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151125824G>A	ENST00000358517.2	+	7	1070	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A287T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	287	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A287T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCGAGTCGCCTGGCATAT	0.517																																						ENST00000367328.1																			1	Substitution - Missense(1)	p.A287T(1)	central_nervous_system(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(859-861)Gcc>Acc		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							83.0	76.0	78.0					6																	151125824		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151125824G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.859G>A	6.37:g.151125824G>A	ENSP00000351318:p.Ala287Thr					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A287T	p.A287T	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	8	1171	+			287			DH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.859G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.042648	0.97231	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82335	-0.0508	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	94;287;287	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	T	287	ENSP00000356297:A287T;ENSP00000351318:A287T	ENSP00000351318:A287T	A	+	1	0	PLEKHG1	151167517	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.731000	0.98807	2.941000	0.99782	0.655000	0.94253	GCC		0.517	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			66	248	0	0	0	1	0	66	248				
PPP1R7	5510	broad.mit.edu	37	2	242122122	242122122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242122122C>A	ENST00000234038.6	+	10	1441	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M|PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	323					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		AGCCAGGAGCCTGGAGACAGT	0.597																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(967-969)Ctg>Atg		protein phosphatase 1, regulatory subunit 7							121.0	114.0	116.0					2																	242122122		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242122122C>A	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.967C>A	2.37:g.242122122C>A	ENSP00000234038:p.Leu323Met					PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M	p.L323M	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	10	1441	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	323					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.967C>A	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.410388|4.410388	0.83340|0.83340	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038|ENST00000415769	T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.81394|0.81394	0.4813|0.4813	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.80764|.	0.992;0.982;0.994|.	D|D	0.85414|0.85414	0.1139|0.1139	10|5	0.66056|.	D|.	0.02|.	-9.5125|-9.5125	11.7306|11.7306	0.51735|0.51735	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	264;280;323|.	C9J177;Q15435-2;Q15435|.	.;.;PP1R7_HUMAN|.	M|H	264;323;280;323|44	ENSP00000412092:L264M;ENSP00000385657:L323M;ENSP00000272983:L280M;ENSP00000234038:L323M|.	ENSP00000234038:L323M|.	L|P	+|+	1|2	2|0	PPP1R7|PPP1R7	241770795|241770795	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.917000|0.917000	0.54804|0.54804	4.465000|4.465000	0.60141|0.60141	2.417000|2.417000	0.82017|0.82017	0.467000|0.467000	0.42956|0.42956	CTG|CCT		0.597	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		17	413	1	0	8.34094e-07	1	8.61956e-07	17	413				
STRN3	29966	broad.mit.edu	37	14	31416418	31416418	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31416418C>A	ENST00000357479.5	-	5	790	c.594G>T	c.(592-594)caG>caT	p.Q198H	STRN3_ENST00000355683.5_Missense_Mutation_p.Q198H	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	198					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCTTACCCGCTGAGACCGTA	0.358																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(592-594)caG>caT		striatin, calmodulin binding protein 3							149.0	145.0	147.0					14																	31416418		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31416418C>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.594G>T	14.37:g.31416418C>A	ENSP00000350071:p.Gln198His					STRN3_ENST00000357479.5_Missense_Mutation_p.Q198H	p.Q198H	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	5	809	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		198					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.594G>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491504	0.44249	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86097	-2.07;-2.07	5.9	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.50333	1.59	0.54753	D	0.999983	P;B	0.51351	0.944;0.035	B;B	0.41202	0.35;0.028	T	0.78866	-0.2035	10	0.54805	T	0.06	0.5774	10.3793	0.44101	0.0:0.8053:0.0:0.1947	.	198;198	Q13033-2;Q13033	.;STRN3_HUMAN	H	198;198;79	ENSP00000347909:Q198H;ENSP00000350071:Q198H	ENSP00000347909:Q198H	Q	-	3	2	STRN3	30486169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.598000	0.36740	0.812000	0.34326	0.591000	0.81541	CAG		0.358	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		70	441	1	0	4.9621e-21	1	5.57887e-21	70	441				
NCAM2	4685	broad.mit.edu	37	21	22849623	22849623	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849623A>C	ENST00000400546.1	+	15	2157	c.1908A>C	c.(1906-1908)gaA>gaC	p.E636D	NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	636	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGATAAGGAAGACCAATGGC	0.348																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1906-1908)gaA>gaC		neural cell adhesion molecule 2							84.0	78.0	80.0					21																	22849623		1830	4090	5920	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849623A>C		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1908A>C	21.37:g.22849623A>C	ENSP00000383392:p.Glu636Asp					NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	p.E636D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2157	+		Lung NSC(9;0.195)	636			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1908A>C	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742087	0.69418	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.59224	0.28;0.28	5.8	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.50333	1.59	0.80722	D	1	P;P	0.50617	0.937;0.937	D;D	0.72982	0.979;0.979	T	0.66432	-0.5925	10	0.42905	T	0.14	-31.9442	10.259	0.43414	0.9222:0.0:0.0778:0.0	.	494;636	B7Z5K2;O15394	.;NCAM2_HUMAN	D	636;494	ENSP00000383392:E636D;ENSP00000284894:E494D	ENSP00000284894:E494D	E	+	3	2	NCAM2	21771494	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.295000	0.65692	2.213000	0.71641	0.528000	0.53228	GAA		0.348	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		39	230	0	0	0	1	0	39	230				
SLC25A36	55186	broad.mit.edu	37	3	140692672	140692672	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140692672G>T	ENST00000324194.6	+	6	735	c.567G>T	c.(565-567)gaG>gaT	p.E189D	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E189D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	189					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATATCAGAGACTGTTATCC	0.353																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(565-567)gaG>gaT		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							67.0	68.0	68.0					3																	140692672		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692672G>T	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.567G>T	3.37:g.140692672G>T	ENSP00000320688:p.Glu189Asp					SLC25A36_ENST00000324194.6_Missense_Mutation_p.E189D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D	p.E189D	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			6	792	+			189					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.567G>T	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335840	0.81801	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78246	-1.16;-1.16;-1.16	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.996	D	0.92087	0.5677	10	0.54805	T	0.06	-7.1033	11.2987	0.49292	0.0818:0.0:0.9182:0.0	.	163;189;189	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	D	189;189;163	ENSP00000401938:E189D;ENSP00000320688:E189D;ENSP00000391521:E163D	ENSP00000320688:E189D	E	+	3	2	SLC25A36	142175362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.264000	0.58859	2.861000	0.98227	0.650000	0.86243	GAG		0.353	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		48	227	1	0	3.4345e-17	1	3.7875e-17	48	227				
TSC2	7249	broad.mit.edu	37	16	2130198	2130198	+	Missense_Mutation	SNP	G	G	A	rs45517294	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130198G>A	ENST00000219476.3	+	30	4060	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M|TSC2_ENST00000568454.1_Missense_Mutation_p.V1111M|TSC2_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000353929.4_Missense_Mutation_p.V1101M|TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1144			V -> M (in TSC2).		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCCCTGGACGTGCCGGCCTC	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56	GRCh37	CM983889	TSC2	M	rs45517294	c.(3430-3432)Gtg>Atg		tuberous sclerosis 2		G	MET/VAL,MET/VAL,MET/VAL	1,4395	2.1+/-5.4	0,1,2197	100.0	106.0	104.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3430,3298,3430	-9.5	0.0	16	dbSNP_127	104	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	21,21,21	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign	1144/1808,1100/1741,1144/1785	2130198	2,12990	2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2130198G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3430G>A	16.37:g.2130198G>A	ENSP00000219476:p.Val1144Met					TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M|TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000353929.4_Missense_Mutation_p.V1101M|TSC2_ENST00000568454.1_Missense_Mutation_p.V1111M	p.V1144M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			30	4060	+		Hepatocellular(780;0.0202)	1144		V -> M (in TSC2).			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3430G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788889	0.31685	2.27E-4	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.89050	-2.38;-2.37;-2.46;-2.41;-2.38	4.74	-9.47	0.00594	.	1.939910	0.02201	N	0.062319	T	0.74989	0.3789	N	0.08118	0	0.09310	N	1	B;B;P;B;B;P	0.43024	0.029;0.049;0.485;0.049;0.086;0.798	B;B;B;B;B;B	0.38803	0.008;0.018;0.282;0.018;0.013;0.089	T	0.75150	-0.3419	10	0.48119	T	0.1	0.0994	10.1082	0.42546	0.6815:0.172:0.1466:0.0	.	1052;1064;1144;1100;1100;1144	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	M	1144;1101;1101;1064;1052;1144	ENSP00000219476:V1144M;ENSP00000248099:V1101M;ENSP00000399232:V1064M;ENSP00000371978:V1052M;ENSP00000344383:V1144M	ENSP00000219476:V1144M	V	+	1	0	TSC2	2070199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.054000	0.11826	-2.326000	0.00637	-1.186000	0.01703	GTG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		17	1075	0	0	0	1	0	17	1075				
WDR83	84292	broad.mit.edu	37	19	12784068	12784068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12784068C>T	ENST00000418543.3	+	10	1085	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.R246C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	246					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)		p.R246C(1)		breast(2)|large_intestine(1)|lung(1)	4						CCTGAGCGAGCGTGACACACA	0.587																																						ENST00000418543.3																			1	Substitution - Missense(1)	p.R246C(1)	large_intestine(1)	breast(2)|large_intestine(1)|lung(1)	4						c.(736-738)Cgt>Tgt		WD repeat domain 83							157.0	145.0	149.0					19																	12784068		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12784068C>T	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.736C>T	19.37:g.12784068C>T	ENSP00000402653:p.Arg246Cys					WDR83_ENST00000242796.4_Missense_Mutation_p.R246C	p.R246C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			10	1085	+			246					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.736C>T	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866536	0.72065	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.81247	-1.47;-1.47	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.174525	0.50627	D	0.000101	T	0.78175	0.4242	N	0.25825	0.765	0.49299	D	0.999771	D	0.63046	0.992	P	0.54174	0.744	T	0.79776	-0.1661	10	0.59425	D	0.04	.	11.6736	0.51417	0.2845:0.7154:0.0:0.0	.	246	Q9BRX9	WDR83_HUMAN	C	246	ENSP00000402653:R246C;ENSP00000242796:R246C	ENSP00000242796:R246C	R	+	1	0	WDR83	12645068	1.000000	0.71417	0.984000	0.44739	0.564000	0.35744	4.499000	0.60380	2.549000	0.85964	0.561000	0.74099	CGT		0.587	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		71	322	0	0	0	1	0	71	322				
PGK1	5230	broad.mit.edu	37	X	77369532	77369532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369532G>T	ENST00000373316.4	+	4	459	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	98					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GTTCTTGAAGGACTGTGTAGG	0.502																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(292-294)Gac>Tac		phosphoglycerate kinase 1							123.0	126.0	125.0					X																	77369532		2203	4297	6500	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369532G>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.292G>T	X.37:g.77369532G>T	ENSP00000362413:p.Asp98Tyr					PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y|PGK1_ENST00000442431.1_Intron	p.D98Y	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			4	459	+			98					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.292G>T	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.121848	0.77436	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.94184	-3.37;-3.37	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.99838	4.83	0.58432	D	0.999999	P	0.48834	0.916	P	0.51974	0.686	D	0.99675	1.0997	10	0.87932	D	0	-12.4287	16.5542	0.84481	0.0:0.0:1.0:0.0	.	98	P00558	PGK1_HUMAN	Y	98;70	ENSP00000362413:D98Y;ENSP00000444708:D70Y	ENSP00000362413:D98Y	D	+	1	0	PGK1	77256188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.214000	0.95140	2.197000	0.70478	0.591000	0.81541	GAC		0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			65	765	1	0	2.17656e-39	1	2.63193e-39	65	765				
NPAT	4863	broad.mit.edu	37	11	108044536	108044536	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108044536T>C	ENST00000278612.8	-	13	1280	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	392					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGTCATCATTCTGATAGGA	0.398																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(1174-1176)aAt>aGt		nuclear protein, ataxia-telangiectasia locus							108.0	98.0	101.0					11																	108044536		1881	4101	5982	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044536T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1175A>G	11.37:g.108044536T>C	ENSP00000278612:p.Asn392Ser						p.N392S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1280	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	392					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1175A>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.698758	0.00725	.	.	ENSG00000149308	ENST00000278612	T	0.03951	3.75	5.67	1.76	0.24704	.	0.510538	0.20492	N	0.091278	T	0.02767	0.0083	L	0.36672	1.1	0.24006	N	0.99619	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.45279	-0.9272	10	0.06365	T	0.9	-14.1273	0.9102	0.01293	0.1478:0.1741:0.1959:0.4822	.	392;392	B9EG70;Q14207	.;NPAT_HUMAN	S	392	ENSP00000278612:N392S	ENSP00000278612:N392S	N	-	2	0	NPAT	107549746	1.000000	0.71417	0.985000	0.45067	0.020000	0.10135	0.889000	0.28282	0.517000	0.28361	0.528000	0.53228	AAT		0.398	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		41	289	0	0	0	1	0	41	289				
SP4	6671	broad.mit.edu	37	7	21521598	21521598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21521598G>A	ENST00000222584.3	+	5	2182	c.1964G>A	c.(1963-1965)gGt>gAt	p.G655D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	655					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAAGGATGTGGTAAAGTTTAT	0.373																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1963-1965)gGt>gAt		Sp4 transcription factor							147.0	144.0	145.0					7																	21521598		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21521598G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1964G>A	7.37:g.21521598G>A	ENSP00000222584:p.Gly655Asp						p.G655D	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			5	2182	+			655					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1964G>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316989	0.95682	.	.	ENSG00000105866	ENST00000222584	T	0.49139	0.79	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	M	0.81341	2.54	0.80722	D	1	D	0.61697	0.99	P	0.61070	0.883	T	0.73707	-0.3898	10	0.72032	D	0.01	.	19.3343	0.94309	0.0:0.0:1.0:0.0	.	655	Q02446	SP4_HUMAN	D	655	ENSP00000222584:G655D	ENSP00000222584:G655D	G	+	2	0	SP4	21488123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.567000	0.86603	0.591000	0.81541	GGT		0.373	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		95	475	0	0	0	1	0	95	475				
CNDP2	55748	broad.mit.edu	37	18	72187265	72187265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72187265G>A	ENST00000324262.4	+	12	1706	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T|CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	464					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CAAGATGCTGGCCGCGTACCT	0.547																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(1390-1392)Gcc>Acc		CNDP dipeptidase 2 (metallopeptidase M20 family)							119.0	94.0	102.0					18																	72187265		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72187265G>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1390G>A	18.37:g.72187265G>A	ENSP00000325548:p.Ala464Thr					CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T|CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T	p.A464T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	12	1706	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	464					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.1390G>A	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722165	0.68959	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09723	2.95;2.95	5.44	4.56	0.56223	.	0.147326	0.64402	D	0.000010	T	0.20047	0.0482	M	0.78801	2.425	0.38235	D	0.941156	P;P	0.38195	0.513;0.622	B;B	0.43251	0.291;0.413	T	0.02942	-1.1091	10	0.72032	D	0.01	-9.0077	11.9072	0.52719	0.0801:0.0:0.9199:0.0	.	380;464	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	T	464;380	ENSP00000325548:A464T;ENSP00000325756:A380T	ENSP00000325548:A464T	A	+	1	0	CNDP2	70338245	1.000000	0.71417	0.972000	0.41901	0.323000	0.28346	5.178000	0.65037	2.548000	0.85928	0.650000	0.86243	GCC		0.547	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		31	152	0	0	0	1	0	31	152				
SYNE1	23345	broad.mit.edu	37	6	152697632	152697632	+	Nonsense_Mutation	SNP	G	G	A	rs549779256		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152697632G>A	ENST00000367255.5	-	58	9809	c.9208C>T	c.(9208-9210)Cga>Tga	p.R3070*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3070					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCCTTTCGAAATCTTTGC	0.388										HNSCC(10;0.0054)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.0		0.001	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(9208-9210)Cga>Tga		spectrin repeat containing, nuclear envelope 1							76.0	79.0	78.0					6																	152697632		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152697632G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9208C>T	6.37:g.152697632G>A	ENSP00000356224:p.Arg3070*	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*	p.R3070*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	58	9809	-		Ovarian(120;0.0955)	3070					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.9208C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711637	0.89112	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.71	3.87	0.44632	.	0.696895	0.13021	N	0.420059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.2997	0.66339	0.0:0.0:0.6123:0.3877	.	.	.	.	X	3070;3077;3070;3077;3109	.	ENSP00000265368:R3070X	R	-	1	2	SYNE1	152739325	1.000000	0.71417	0.880000	0.34516	0.904000	0.53231	4.425000	0.59875	0.714000	0.32081	0.655000	0.94253	CGA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		45	235	0	0	0	1	0	45	235				
ST6GALNAC6	30815	broad.mit.edu	37	9	130656830	130656830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130656830C>T	ENST00000373146.1	-	4	437	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	86					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTGATGCTCCACTTCTTGA	0.592																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(256-258)tgG>tgA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							110.0	104.0	106.0					9																	130656830		2203	4300	6503	SO:0001587	stop_gained	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130656830C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.258G>A	9.37:g.130656830C>T	ENSP00000362239:p.Trp86*					ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*	p.W86*			Q969X2	SIA7F_HUMAN			4	437	-			86					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Nonsense_Mutation	SNP	ENST00000373146.1	37	c.258G>A	CCDS6882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.412320|5.412320	0.96072|0.96072	.|.	.|.	ENSG00000160408|ENSG00000160408	ENST00000542456|ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T|.	0.47177|.	0.85|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.117745	.|0.64402	.|D	.|0.000007	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.34597|0.34597	D|D	0.716131|0.716131	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.43065|.	-0.9414|.	8|.	0.45353|0.07175	T|T	0.12|0.84	-12.0278|-12.0278	16.0654|16.0654	0.80867|0.80867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	22|.	B4DU80|.	.|.	E|X	22|86;52;86;52;86;52	ENSP00000438109:G22E|.	ENSP00000438109:G22E|ENSP00000291839:W86X	G|W	-|-	2|3	0|0	ST6GALNAC6|ST6GALNAC6	129696651|129696651	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.833000|0.833000	0.47200|0.47200	4.981000|4.981000	0.63819|0.63819	2.390000|2.390000	0.81377|0.81377	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.592	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		96	500	0	0	0	1	0	96	500				
CNOT3	4849	broad.mit.edu	37	19	54649380	54649380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54649380G>A	ENST00000406403.1	+	7	2133	c.530G>A	c.(529-531)cGc>cAc	p.R177H	CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	177					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGAAGCACCGCTACCACGTG	0.607																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(529-531)cGc>cAc		CCR4-NOT transcription complex, subunit 3							143.0	94.0	111.0					19																	54649380		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649380G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.530G>A	19.37:g.54649380G>A	ENSP00000383954:p.Arg177His					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H	p.R177H			O75175	CNOT3_HUMAN			7	2133	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		177					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.530G>A	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.011912|5.011912	0.93346|0.93346	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000406403	.|T;T	.|0.48201	.|0.82;0.82	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Not CCR4-Not complex component, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.997;0.999	T|T	0.68224|0.68224	-0.5465|-0.5465	5|10	.|0.87932	.|D	.|0	-25.8557|-25.8557	17.3261|17.3261	0.87248|0.87248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|177;177;101	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	T|H	99|177	.|ENSP00000221232:R177H;ENSP00000383954:R177H	.|ENSP00000221232:R177H	A|R	+|+	1|2	0|0	CNOT3|CNOT3	59341192|59341192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	9.430000|9.430000	0.97488|0.97488	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	GCT|CGC		0.607	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		39	158	0	0	0	1	0	39	158				
TEKT4	150483	broad.mit.edu	37	2	95537600	95537600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537600C>T	ENST00000295201.4	+	1	413	c.276C>T	c.(274-276)ggC>ggT	p.G92G	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.G92G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	92					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCACAGTGGGCGAGCGACTGC	0.687																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(274-276)ggC>ggT		tektin 4							15.0	14.0	14.0					2																	95537600		2189	4285	6474	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537600C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.276C>T	2.37:g.95537600C>T						AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.G92G	p.G92G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	413	+			92						Silent	SNP	ENST00000295201.4	37	c.276C>T	CCDS2005.1																																																																																				0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		47	84	0	0	0	1	0	47	84				
AP4B1	10717	broad.mit.edu	37	1	114443916	114443916	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114443916G>A	ENST00000369569.1	-	4	839	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	AP4B1_ENST00000256658.4_Silent_p.L187L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	187					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTTTCAGAATTTCCTCT	0.418																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(559-561)Ctg>Ttg		adaptor-related protein complex 4, beta 1 subunit							105.0	103.0	104.0					1																	114443916		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114443916G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.559C>T	1.37:g.114443916G>A						AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Silent_p.L187L|AP4B1_ENST00000369566.3_Intron	p.L187L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	839	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	187					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.559C>T	CCDS865.1																																																																																				0.418	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		88	339	0	0	0	1	0	88	339				
AP1S1	1174	broad.mit.edu	37	7	100802426	100802426	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100802426C>A	ENST00000337619.5	+	4	496	c.378C>A	c.(376-378)acC>acA	p.T126T	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	126					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCAGGACACCTCCAAGAAGA	0.582																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(376-378)acC>acA		adaptor-related protein complex 1, sigma 1 subunit							55.0	60.0	58.0					7																	100802426		2114	4210	6324	SO:0001819	synonymous_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802426C>A	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.378C>A	7.37:g.100802426C>A							p.T126T	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			4	496	+	Lung NSC(181;0.168)|all_lung(186;0.215)		126					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Silent	SNP	ENST00000337619.5	37	c.378C>A	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	C	9.249	1.040322	0.19669	.	.	ENSG00000106367	ENST00000429457	.	.	.	4.82	-0.323	0.12709	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22800	-1.0206	4	.	.	.	3.3721	0.5486	0.00658	0.2789:0.337:0.1363:0.2478	.	.	.	.	H	168	.	.	P	+	2	0	AP1S1	100589146	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-2.737000	0.00801	-0.265000	0.09352	0.555000	0.69702	CCT		0.582	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		36	119	1	0	9.78485e-24	1	1.11444e-23	36	119				
ZSCAN1	284312	broad.mit.edu	37	19	58565026	58565026	+	Silent	SNP	C	C	T	rs542464502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58565026C>T	ENST00000282326.1	+	6	1081	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	278					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGTTGCAGGCATCTCGGTAG	0.622																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(832-834)ggC>ggT		zinc finger and SCAN domain containing 1							69.0	70.0	69.0					19																	58565026		2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565026C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.834C>T	19.37:g.58565026C>T							p.G278G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1081	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	278					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.834C>T	CCDS12969.1																																																																																				0.622	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		32	363	0	0	0	1	0	32	363				
NUTM2F	54754	broad.mit.edu	37	9	97081272	97081272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97081272C>A	ENST00000253262.4	-	7	1766	c.1746G>T	c.(1744-1746)caG>caT	p.Q582H	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.Q567H	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	582																	TGGGGGAATCCTGACATCCCA	0.672																																						ENST00000253262.4																			0											c.(1744-1746)caG>caT		NUT family member 2F							59.0	53.0	55.0					9																	97081272		1999	4162	6161	SO:0001583	missense	54754							g.chr9:97081272C>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1746G>T	9.37:g.97081272C>A	ENSP00000253262:p.Gln582His					NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.Q567H	p.Q582H	NM_017561.1	NP_060031.1					7	1766	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.1746G>T	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154686	0.21371	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.16324	2.35;2.35	1.52	-0.556	0.11803	.	1.777890	0.02932	N	0.139294	T	0.33265	0.0857	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	D	0.64042	0.921	T	0.12837	-1.0532	10	0.44086	T	0.13	.	4.1144	0.10074	0.0:0.57:0.0:0.43	.	582	A1L443	FA22F_HUMAN	H	582;567;416	ENSP00000253262:Q582H;ENSP00000343865:Q567H	ENSP00000253262:Q582H	Q	-	3	2	FAM22F	96121093	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.708000	0.05035	-0.139000	0.11414	-0.391000	0.06502	CAG		0.672	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		45	230	1	0	3.86236e-30	1	4.52529e-30	45	230				
KANSL1	284058	broad.mit.edu	37	17	44108915	44108915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44108915G>A	ENST00000262419.6	-	15	3715	c.3245C>T	c.(3244-3246)tCg>tTg	p.S1082L	KANSL1_ENST00000393476.3_Missense_Mutation_p.S376L|KANSL1_ENST00000574590.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000432791.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000572904.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000575318.1_Missense_Mutation_p.S1018L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1082	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AATGGGAGGCGAGGTGGGCGC	0.642																																						ENST00000262419.6																			0											c.(3244-3246)tCg>tTg		KAT8 regulatory NSL complex subunit 1							31.0	28.0	29.0					17																	44108915		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44108915G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3245C>T	17.37:g.44108915G>A	ENSP00000262419:p.Ser1082Leu					KANSL1_ENST00000393476.3_Missense_Mutation_p.S376L|KANSL1_ENST00000432791.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000575318.1_Missense_Mutation_p.S1018L|KANSL1_ENST00000574590.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000572904.1_Missense_Mutation_p.S1082L	p.S1082L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			15	3715	-			1082					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.3245C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658927	0.67586	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.36340	2.09;2.09;1.26	5.72	4.74	0.60224	.	0.157171	0.42964	D	0.000640	T	0.44993	0.1320	L	0.27053	0.805	0.41849	D	0.990164	B;B;D;D	0.71674	0.002;0.002;0.998;0.998	B;B;D;D	0.72982	0.002;0.002;0.979;0.979	T	0.44034	-0.9354	10	0.54805	T	0.06	-3.2033	12.071	0.53616	0.0811:0.0:0.9189:0.0	.	350;413;1082;1082	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	L	1082;1082;376	ENSP00000262419:S1082L;ENSP00000387393:S1082L;ENSP00000377117:S376L	ENSP00000262419:S1082L	S	-	2	0	KIAA1267	41464762	0.974000	0.33945	0.935000	0.37517	0.682000	0.39822	2.195000	0.42677	1.401000	0.46761	0.561000	0.74099	TCG		0.642	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		39	163	0	0	0	1	0	39	163				
ZIM2	23619	broad.mit.edu	37	19	57286274	57286274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286274G>A	ENST00000391708.3	-	12	1908	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R456W|ZIM2_ENST00000601070.1_Missense_Mutation_p.R456W|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R456W|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R456W	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	456					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCATGTTTCCGCTGATAACGA	0.468																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1366-1368)Cgg>Tgg		zinc finger, imprinted 2							88.0	69.0	76.0					19																	57286274		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286274G>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1366C>T	19.37:g.57286274G>A	ENSP00000375589:p.Arg456Trp					AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R456W|ZIM2_ENST00000593711.1_Missense_Mutation_p.R456W|ZIM2_ENST00000221722.5_Missense_Mutation_p.R456W|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R456W	p.R456W	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1908	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.1366C>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361381	0.61403	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05513	3.43;3.43	4.63	3.52	0.40303	.	.	.	.	.	T	0.22513	0.0543	M	0.79614	2.46	.	.	.	D	0.89917	1.0	D	0.67548	0.952	T	0.17410	-1.0370	8	0.87932	D	0	.	12.0163	0.53315	0.0:0.0:0.8271:0.1729	.	456	Q9NZV7	ZIM2_HUMAN	W	456	ENSP00000375589:R456W;ENSP00000221722:R456W	ENSP00000221722:R456W	R	-	1	2	ZIM2	61978086	0.000000	0.05858	0.731000	0.30826	0.830000	0.47004	-0.107000	0.10873	2.575000	0.86900	0.655000	0.94253	CGG		0.468	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			10	285	0	0	0	1	0	10	285				
CLPX	10845	broad.mit.edu	37	15	65448058	65448058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65448058C>T	ENST00000300107.3	-	10	1471	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	428					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTGATGATTCTGTCTAAACC	0.398																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(1282-1284)aGa>aAa		caseinolytic mitochondrial matrix peptidase chaperone subunit							132.0	128.0	129.0					15																	65448058		2202	4299	6501	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65448058C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1283G>A	15.37:g.65448058C>T	ENSP00000300107:p.Arg428Lys						p.R428K	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			10	1471	-			428					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.1283G>A	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551455	0.45487	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.38240	1.15	5.98	5.98	0.97165	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.02111	-0.68	0.80722	D	1	B	0.24132	0.098	B	0.34180	0.177	T	0.17592	-1.0364	10	0.05351	T	0.99	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	428	O76031	CLPX_HUMAN	K	428	ENSP00000300107:R428K	ENSP00000300107:R428K	R	-	2	0	CLPX	63235111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.838000	0.97847	0.591000	0.81541	AGA		0.398	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		110	456	0	0	0	1	0	110	456				
NPY4R	5540	broad.mit.edu	37	10	47087512	47087512	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47087512G>A	ENST00000395716.1	+	2	814	c.729G>A	c.(727-729)agG>agA	p.R243R	NPY4R_ENST00000374312.1_Silent_p.R243R			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	243					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GCCTGCAGAGGCAGGGGCGCG	0.597																																						ENST00000374312.1																			0											c.(727-729)agG>agA		neuropeptide Y receptor Y4							154.0	126.0	136.0					10																	47087512		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087512G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.729G>A	10.37:g.47087512G>A						NPY4R_ENST00000395716.1_Silent_p.R243R	p.R243R	NM_005972.4	NP_005963.3					3	1148	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.729G>A	CCDS31193.1																																																																																				0.597	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			53	728	0	0	0	1	0	53	728				
KCNK13	56659	broad.mit.edu	37	14	90651173	90651173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90651173C>T	ENST00000282146.4	+	2	1494	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	351					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATGAAGGACTTGCTGGCAG	0.627																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(1051-1053)gaC>gaT		potassium channel, subfamily K, member 13							46.0	47.0	47.0					14																	90651173		2203	4299	6502	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651173C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1053C>T	14.37:g.90651173C>T							p.D351D	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1494	+		all_cancers(154;0.186)	351					B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.1053C>T	CCDS9889.1																																																																																				0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		72	359	0	0	0	1	0	72	359				
ZNF574	64763	broad.mit.edu	37	19	42585196	42585196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585196G>A	ENST00000600245.1	+	2	3093	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	813					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCAGAACATCGCCGCATCCAC	0.612																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2437-2439)cGc>cAc		zinc finger protein 574							66.0	66.0	66.0					19																	42585196		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42585196G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2438G>A	19.37:g.42585196G>A	ENSP00000469029:p.Arg813His					ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H	p.R813H			Q6ZN55	ZN574_HUMAN			2	3093	+		Prostate(69;0.059)	813					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.2438G>A	CCDS12596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.936183|2.936183	0.52972|0.52972	.|.	.|.	ENSG00000105732|ENSG00000105732	ENST00000535775|ENST00000222339;ENST00000359044	.|T;T	.|0.07688	.|3.17;3.17	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.077728	.|0.49305	.|D	.|0.000142	T|T	0.15176|0.15176	0.0366|0.0366	L|L	0.31845|0.31845	0.965|0.965	0.34860|0.34860	D|D	0.742544|0.742544	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.957;0.982	T|T	0.07908|0.07908	-1.0748|-1.0748	6|10	0.72032|0.48119	D|T	0.01|0.1	-21.3264|-21.3264	7.1979|7.1979	0.25864|0.25864	0.1825:0.0:0.8175:0.0|0.1825:0.0:0.8175:0.0	.|.	.|813;902	.|Q6ZN55;Q6ZN55-2	.|ZN574_HUMAN;.	T|H	420|903;813	.|ENSP00000222339:R903H;ENSP00000351939:R813H	ENSP00000445515:A420T|ENSP00000222339:R903H	A|R	+|+	1|2	0|0	ZNF574|ZNF574	47277036|47277036	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.503000|1.503000	0.35715|0.35715	2.510000|2.510000	0.84645|0.84645	0.557000|0.557000	0.71058|0.71058	GCC|CGC		0.612	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		96	425	0	0	0	1	0	96	425				
MYH11	4629	broad.mit.edu	37	16	15829434	15829434	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15829434G>T	ENST00000300036.5	-	26	3404	c.3295C>A	c.(3295-3297)Ctt>Att	p.L1099I	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Splice_Site_p.L1106I|MYH11_ENST00000452625.2_Splice_Site_p.L1106I|MYH11_ENST00000576790.2_Splice_Site_p.L1099I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1099					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCATCGTCAAGCCTTCCAGGG	0.542			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.e26-1		myosin, heavy chain 11, smooth muscle							57.0	60.0	59.0					16																	15829434		2197	4300	6497	SO:0001630	splice_region_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15829434G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3294-1C>A	16.37:g.15829434G>T						MYH11_ENST00000300036.5_Splice_Site_p.L1099_splice|MYH11_ENST00000452625.2_Splice_Site_p.L1106_splice|MYH11_ENST00000396324.3_Splice_Site_p.L1106_splice|MYH11_ENST00000576790.1_Splice_Site_p.L1099_splice	p.L1099_splice	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			26	3401	-			1099					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Splice_Site	SNP	ENST00000300036.5	37	c.3293_splice	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550723	0.13374	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.64402	D	0.000002	T	0.78464	0.4287	N	0.20986	0.625	0.53005	D	0.999961	B;B;B;B;B	0.11235	0.002;0.004;0.004;0.002;0.002	B;B;B;B;B	0.18263	0.021;0.02;0.02;0.02;0.012	T	0.72357	-0.4318	10	0.02654	T	1	.	18.4136	0.90561	0.0:0.0:1.0:0.0	.	1106;1099;1106;1099;1106	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	1099;1099;1106;1106;1106	ENSP00000300036:L1099I;ENSP00000345136:L1099I;ENSP00000379616:L1106I;ENSP00000407821:L1106I	ENSP00000300036:L1099I	L	-	1	0	MYH11	15736935	1.000000	0.71417	0.996000	0.52242	0.437000	0.31866	1.568000	0.36418	2.593000	0.87608	0.442000	0.29010	CTT		0.542	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	Missense_Mutation	96	375	1	0	2.1089e-46	1	2.5903e-46	96	375				
SEMA3F	6405	broad.mit.edu	37	3	50222947	50222947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50222947G>A	ENST00000002829.3	+	14	2012	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	510	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CATGCTGGAGGAGGTGGAGGT	0.627																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1528-1530)Gag>Aag		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							126.0	104.0	112.0					3																	50222947		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50222947G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1528G>A	3.37:g.50222947G>A	ENSP00000002829:p.Glu510Lys					SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	p.E510K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	14	2012	+			510			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1528G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213343	0.79352	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.29917	1.55;1.55;1.55	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.043661	0.85682	D	0.000000	T	0.51193	0.1660	H	0.96547	3.84	0.58432	D	0.999998	P;B	0.36660	0.564;0.148	B;B	0.35688	0.208;0.133	T	0.68051	-0.5511	10	0.87932	D	0	.	17.0521	0.86521	0.0:0.0:1.0:0.0	.	479;510	C9JQ85;Q13275	.;SEM3F_HUMAN	K	411;510;479	ENSP00000388931:E411K;ENSP00000002829:E510K;ENSP00000409859:E479K	ENSP00000002829:E510K	E	+	1	0	SEMA3F	50197951	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.395000	0.97266	2.575000	0.86900	0.448000	0.29417	GAG		0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		28	122	0	0	0	1	0	28	122				
SMURF2P1	107133516	broad.mit.edu	37	17	28935515	28935515	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28935515G>T	ENST00000579301.1	+	0	366									SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1																		TAAGAAACAAGGTGCTGGATT	0.363																																						ENST00000578265.1																			0																																																			0							g.chr17:28935515G>T			17q11.2	2012-10-05			ENSG00000248121	ENSG00000248121			44402	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000132798		17.37:g.28935515G>T														0	168	+									RNA	SNP	ENST00000579301.1	37																																																																																						0.363	SMURF2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444254.1			23	138	1	0	7.92952e-12	1	8.47903e-12	23	138				
NUDT19	390916	broad.mit.edu	37	19	33183175	33183175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33183175G>A	ENST00000397061.3	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	103	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CTTTCCCGTCGCTGCCCGACA	0.721																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(307-309)tcG>tcA		nudix (nucleoside diphosphate linked moiety X)-type motif 19							20.0	24.0	23.0					19																	33183175		2101	4210	6311	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183175G>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.309G>A	19.37:g.33183175G>A							p.S103S	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	309	+	Esophageal squamous(110;0.137)		103			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.309G>A	CCDS42543.1																																																																																				0.721	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		56	237	0	0	0	1	0	56	237				
KIAA1045	23349	broad.mit.edu	37	9	34972508	34972508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34972508G>T	ENST00000242315.3	+	3	626	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	182							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CACAGAAACAGGCTGGAGCTG	0.572																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(544-546)Ggc>Tgc		KIAA1045							46.0	61.0	56.0					9																	34972508		2041	4172	6213	SO:0001583	missense	23349						calcium ion binding	g.chr9:34972508G>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.544G>T	9.37:g.34972508G>T	ENSP00000242315:p.Gly182Cys					KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C	p.G182C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	626	+			182					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.544G>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	33	5.206604	0.95033	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	5.73	0.89815	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80106	-0.1521	9	0.87932	D	0	-2.4144	18.8848	0.92372	0.0:0.0:1.0:0.0	.	182	Q9UPV7	K1045_HUMAN	C	182	.	ENSP00000242315:G182C	G	+	1	0	KIAA1045	34962508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.743000	0.91592	2.700000	0.92200	0.655000	0.94253	GGC		0.572	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		85	340	1	0	5.92634e-42	1	7.20812e-42	85	340				
SAFB2	9667	broad.mit.edu	37	19	5592849	5592849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5592849G>A	ENST00000252542.4	-	16	2521	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	753	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCACGATATCGGTCCTCCATT	0.507																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2257-2259)Cga>Tga		scaffold attachment factor B2							153.0	117.0	129.0					19																	5592849		2203	4300	6503	SO:0001587	stop_gained	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5592849G>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2257C>T	19.37:g.5592849G>A	ENSP00000252542:p.Arg753*						p.R753*	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	16	2521	-			753			Arg-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Nonsense_Mutation	SNP	ENST00000252542.4	37	c.2257C>T	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.247483	0.97412	.	.	ENSG00000130254	ENST00000252542	.	.	.	4.7	2.52	0.30459	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.424	12.9125	0.58187	0.0:0.0:0.5736:0.4264	.	.	.	.	X	753	.	ENSP00000252542:R753X	R	-	1	2	SAFB2	5543849	0.784000	0.28713	0.872000	0.34217	0.114000	0.19823	0.052000	0.14163	0.155000	0.19261	-0.364000	0.07487	CGA		0.507	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		10	229	0	0	0	1	0	10	229				
QPCTL	54814	broad.mit.edu	37	19	46198779	46198779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46198779G>T	ENST00000012049.5	+	3	657	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L	SNRPD2_ENST00000587579.1_5'Flank|QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	146					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCTGGGGCCAGTGGACTTTGG	0.622																																						ENST00000012049.5																			0				breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11						c.(436-438)Gtg>Ttg		glutaminyl-peptide cyclotransferase-like							124.0	114.0	117.0					19																	46198779		2203	4300	6503	SO:0001583	missense	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46198779G>T	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.436G>T	19.37:g.46198779G>T	ENSP00000012049:p.Val146Leu					QPCTL_ENST00000366382.4_Intron	p.V146L	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	3	657	+		Ovarian(192;0.051)|all_neural(266;0.112)	146	Missing (in Ref. 4; AAH11553).				Q53HE4|Q96F74	Missense_Mutation	SNP	ENST00000012049.5	37	c.436G>T	CCDS12672.1	.	.	.	.	.	.	.	.	.	.	g	0.026	-1.368345	0.01225	.	.	ENSG00000011478	ENST00000012049	T	0.22743	1.94	4.72	-6.65	0.01795	.	0.339445	0.28077	N	0.016700	T	0.03739	0.0106	N	0.03268	-0.37	0.21627	N	0.999617	B	0.02656	0.0	B	0.04013	0.001	T	0.36817	-0.9732	10	0.02654	T	1	-10.4789	0.09	0.00039	0.2793:0.1748:0.2162:0.3297	.	146	Q9NXS2	QPCTL_HUMAN	L	146	ENSP00000012049:V146L	ENSP00000012049:V146L	V	+	1	0	QPCTL	50890619	0.000000	0.05858	0.401000	0.26359	0.357000	0.29423	-0.645000	0.05409	-0.462000	0.06984	-1.248000	0.01517	GTG		0.622	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		17	809	1	0	1.37285e-15	1	1.50199e-15	17	809				
CYP2J2	1573	broad.mit.edu	37	1	60377927	60377927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377927C>T	ENST00000371204.3	-	3	473	c.430G>A	c.(430-432)Gca>Aca	p.A144T	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	144					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	TTCCTTAGTGCTGTCAGAGTG	0.438																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(430-432)Gca>Aca		cytochrome P450, family 2, subfamily J, polypeptide 2							202.0	169.0	180.0					1																	60377927		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377927C>T	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.430G>A	1.37:g.60377927C>T	ENSP00000360247:p.Ala144Thr					CYP2J2_ENST00000492633.1_5'UTR	p.A144T	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			3	473	-	all_cancers(7;0.000396)		144					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.430G>A	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860623	0.02610	.	.	ENSG00000134716	ENST00000371204	T	0.67171	-0.25	5.85	3.59	0.41128	.	0.155125	0.56097	N	0.000022	T	0.25938	0.0632	N	0.00560	-1.38	0.19775	N	0.999956	B	0.02656	0.0	B	0.08055	0.003	T	0.36237	-0.9756	10	0.02654	T	1	.	7.9599	0.30066	0.0:0.1789:0.0:0.8211	.	144	P51589	CP2J2_HUMAN	T	144	ENSP00000360247:A144T	ENSP00000360247:A144T	A	-	1	0	CYP2J2	60150515	0.862000	0.29867	0.204000	0.23530	0.488000	0.33401	1.207000	0.32333	0.514000	0.28300	0.655000	0.94253	GCA		0.438	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		54	550	0	0	0	1	0	54	550				
LCE1C	353133	broad.mit.edu	37	1	152777882	152777882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777882G>A	ENST00000607093.1	-	1	72	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	LCE1C_ENST00000368768.1_Missense_Mutation_p.P25S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tttggggTGgggcacttggga	0.637																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(73-75)Ccc>Tcc		late cornified envelope 1C							43.0	44.0	44.0					1																	152777882		2203	4300	6503	SO:0001583	missense	353133				keratinization			g.chr1:152777882G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.73C>T	1.37:g.152777882G>A	ENSP00000475270:p.Pro25Ser					LCE1C_ENST00000607093.1_Missense_Mutation_p.P25S	p.P25S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	123	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		25			Pro-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.73C>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968345	0.02232	.	.	ENSG00000197084	ENST00000368768	T	0.03663	3.85	3.53	-0.578	0.11724	.	.	.	.	.	T	0.01489	0.0048	M	0.68952	2.095	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43048	-0.9415	9	0.87932	D	0	.	3.3399	0.07115	0.3664:0.2056:0.428:0.0	.	25	Q5T751	LCE1C_HUMAN	S	25	ENSP00000357757:P25S	ENSP00000357757:P25S	P	-	1	0	LCE1C	151044506	0.872000	0.30054	0.035000	0.18076	0.093000	0.18481	2.296000	0.43584	0.008000	0.14787	-0.150000	0.13652	CCC		0.637	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		108	303	0	0	0	1	0	108	303				
ZNF358	140467	broad.mit.edu	37	19	7584405	7584405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7584405G>A	ENST00000597229.1	+	2	447	c.277G>A	c.(277-279)Gac>Aac	p.D93N	ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N|CTD-2207O23.11_ENST00000602083.1_RNA|CTD-2207O23.12_ENST00000599312.1_3'UTR	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	93					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTCGAGTTTCGACCTCGATCC	0.607																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(277-279)Gac>Aac		zinc finger protein 358							99.0	86.0	90.0					19																	7584405		2203	4300	6503	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584405G>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.277G>A	19.37:g.7584405G>A	ENSP00000472305:p.Asp93Asn					CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N	p.D93N	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	447	+			93					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.277G>A	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655071	0.67472	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07327	3.2	3.91	3.91	0.45181	.	.	.	.	.	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	0.999998	P	0.43885	0.82	B	0.26969	0.075	T	0.38542	-0.9656	9	0.26408	T	0.33	-25.3346	14.2642	0.66104	0.0:0.0:1.0:0.0	.	93	Q9NW07	ZN358_HUMAN	N	93	ENSP00000377873:D93N	ENSP00000354703:D93N	D	+	1	0	ZNF358	7490405	0.975000	0.34042	0.250000	0.24296	0.609000	0.37215	3.926000	0.56491	2.137000	0.66172	0.456000	0.33151	GAC		0.607	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			34	743	0	0	0	1	0	34	743				
KCNQ5	56479	broad.mit.edu	37	6	73787531	73787531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73787531C>T	ENST00000370398.1	+	5	948	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	280					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.S280L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTTATTTTTTCGTCTTTCCTT	0.338																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			1	Substitution - Missense(1)	p.S280L(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(838-840)tCg>tTg		potassium voltage-gated channel, KQT-like subfamily, member 5							138.0	118.0	125.0					6																	73787531		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787531C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.839C>T	6.37:g.73787531C>T	ENSP00000359425:p.Ser280Leu					KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L	p.S280L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	5	1237	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	280					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.839C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204449	0.79127	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.86	5.86	0.93980	Ion transport (1);	0.066132	0.64402	D	0.000006	D	0.97383	0.9144	L	0.58354	1.805	0.80722	D	1	P;P;D;D;P;P	0.61080	0.55;0.937;0.981;0.989;0.949;0.521	B;B;P;P;P;B	0.57101	0.167;0.358;0.813;0.778;0.687;0.054	D	0.97285	0.9920	10	0.62326	D	0.03	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	280;280;280;280;280;280	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	L	280	ENSP00000345055:S280L;ENSP00000347326:S280L;ENSP00000359425:S280L;ENSP00000359419:S280L;ENSP00000385501:S280L;ENSP00000347853:S280L;ENSP00000384453:S280L;ENSP00000409861:S280L	ENSP00000345055:S280L	S	+	2	0	KCNQ5	73844252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	TCG		0.338	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		20	134	0	0	0	1	0	20	134				
GSAP	54103	broad.mit.edu	37	7	76950696	76950696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76950696C>T	ENST00000257626.7	-	25	2026	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	650					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CAATTGGTTTCTACGATGTGG	0.458																																						ENST00000257626.7																			0											c.(1948-1950)Gaa>Aaa		gamma-secretase activating protein							118.0	117.0	117.0					7																	76950696		1975	4166	6141	SO:0001583	missense	54103							g.chr7:76950696C>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1948G>A	7.37:g.76950696C>T	ENSP00000257626:p.Glu650Lys					GSAP_ENST00000441833.2_Intron|GSAP_ENST00000440473.1_5'UTR	p.E650K	NM_017439.3	NP_059135.2					25	2026	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.1948G>A	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096086	0.36952	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.30714	1.52;1.52	5.56	5.56	0.83823	.	0.106321	0.64402	D	0.000005	T	0.27629	0.0679	L	0.40543	1.245	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02713	-1.1120	10	0.25751	T	0.34	.	16.8033	0.85619	0.0:1.0:0.0:0.0	.	650	A4D1B5	GSAP_HUMAN	K	650;103	ENSP00000257626:E650K;ENSP00000396230:E103K	ENSP00000257626:E650K	E	-	1	0	PION	76788632	1.000000	0.71417	0.844000	0.33320	0.068000	0.16541	3.095000	0.50235	2.777000	0.95525	0.591000	0.81541	GAA		0.458	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		54	201	0	0	0	1	0	54	201				
N4BP2	55728	broad.mit.edu	37	4	40138628	40138628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40138628G>A	ENST00000261435.6	+	14	5127	c.4711G>A	c.(4711-4713)Gtt>Att	p.V1571I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1571					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGTAAAAACAGTTGTAGCCCA	0.338																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4711-4713)Gtt>Att		NEDD4 binding protein 2							75.0	75.0	75.0					4																	40138628		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40138628G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4711G>A	4.37:g.40138628G>A	ENSP00000261435:p.Val1571Ile						p.V1571I	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			14	5127	+			1571					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4711G>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.676723|4.676723	0.88445|0.88445	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.22134	.|1.97	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.069343	.|0.56097	.|D	.|0.000029	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.32530|0.32530	0.975|0.975	0.48341|0.48341	D|D	0.999636|0.999636	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.80764	.|0.994;0.987	T|T	0.03025|0.03025	-1.1081|-1.1081	5|10	.|0.39692	.|T	.|0.17	-14.4961|-14.4961	17.3733|17.3733	0.87384|0.87384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1571;1571	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	N|I	1217|1571;1491	.|ENSP00000261435:V1571I	.|ENSP00000261435:V1571I	S|V	+|+	2|1	0|0	N4BP2|N4BP2	39815023|39815023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.671000|7.671000	0.83941|0.83941	2.524000|2.524000	0.85096|0.85096	0.563000|0.563000	0.77884|0.77884	AGT|GTT		0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		40	225	0	0	0	1	0	40	225				
GAD1	2571	broad.mit.edu	37	2	171702066	171702066	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702066T>C	ENST00000358196.3	+	8	1352	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	268					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTACAAGTACTTCCCGGAAGT	0.517																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(802-804)Ttc>Ctc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						116.0	117.0	116.0					2																	171702066		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702066T>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.802T>C	2.37:g.171702066T>C	ENSP00000350928:p.Phe268Leu						p.F268L	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			8	1352	+			268					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.802T>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634935	0.47049	.	.	ENSG00000128683	ENST00000358196	T	0.35236	1.32	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.49571	1.57	0.80722	D	1	P	0.49862	0.929	P	0.50049	0.629	T	0.43442	-0.9391	10	0.66056	D	0.02	-17.3573	15.91	0.79467	0.0:0.0:0.0:1.0	.	268	Q99259	DCE1_HUMAN	L	268	ENSP00000350928:F268L	ENSP00000350928:F268L	F	+	1	0	GAD1	171410312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.141000	0.66446	0.533000	0.62120	TTC		0.517	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			86	436	0	0	0	1	0	86	436				
TTC30B	150737	broad.mit.edu	37	2	178415760	178415760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178415760G>A	ENST00000408939.3	-	1	1982	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	578					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCTGTTCCCAGCTTTTTGTTG	0.368																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1732-1734)Ctg>Ttg		tetratricopeptide repeat domain 30B							154.0	160.0	158.0					2																	178415760		2203	4300	6503	SO:0001819	synonymous_variant	150737				cell projection organization	cilium	binding	g.chr2:178415760G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1732C>T	2.37:g.178415760G>A							p.L578L	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1982	-			578					Q63HQ1|Q96NE6	Silent	SNP	ENST00000408939.3	37	c.1732C>T	CCDS42784.1																																																																																				0.368	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		280	865	0	0	0	1	0	280	865				
BCLAF1	9774	broad.mit.edu	37	6	136590614	136590614	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136590614G>A	ENST00000531224.1	-	9	2432	c.2180C>T	c.(2179-2181)cCa>cTa	p.P727L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	727					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTAATCTTTTGGAGTTTTTTC	0.383																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2179-2181)cCa>cTa		BCL2-associated transcription factor 1							110.0	105.0	107.0					6																	136590614		2203	4299	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590614G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2180C>T	6.37:g.136590614G>A	ENSP00000435210:p.Pro727Leu					BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L	p.P727L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2432	-	Colorectal(23;0.24)		727					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2180C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814670	0.32053	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.14640	4.35;4.35;4.35;2.49;4.35;4.35	4.82	3.89	0.44902	.	0.582086	0.15264	N	0.271612	T	0.04543	0.0124	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.21905	0.027;0.062;0.027;0.004	B;B;B;B	0.16289	0.006;0.015;0.006;0.006	T	0.16988	-1.0384	10	0.56958	D	0.05	0.3182	12.8904	0.58068	0.0:0.0:0.7217:0.2783	.	725;725;727;554	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	727;725;727;554;725;725	ENSP00000435210:P727L;ENSP00000229446:P725L;ENSP00000435441:P727L;ENSP00000436501:P554L;ENSP00000434826:P725L;ENSP00000376159:P725L	ENSP00000229446:P725L	P	-	2	0	BCLAF1	136632307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.059000	0.57470	2.393000	0.81446	0.591000	0.81541	CCA		0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	383	0	0	0	1	0	14	383				
EEF1D	1936	broad.mit.edu	37	8	144672378	144672378	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144672378G>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000532741.1_Silent_p.I8I|EEF1D_ENST00000442189.2_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGGGGCTGAGGATGCTCCCCA	0.657																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(22-24)atC>atT		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)																																				SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144672378G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-3359C>T	8.37:g.144672378G>A						EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron	p.I8I			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	252	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		115					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.24C>T	CCDS6405.1																																																																																				0.657	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		4	38	0	0	0	1	0	4	38				
IFNAR2	3455	broad.mit.edu	37	21	34635602	34635602	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34635602C>T	ENST00000342136.4	+	9	1671	c.1345C>T	c.(1345-1347)Cta>Tta	p.L449L	IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Silent_p.L449L|IFNAR2_ENST00000404220.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	449					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CCCTCTGATGCTATCGTCTCA	0.498																																						ENST00000342136.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(1345-1347)Cta>Tta		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						257.0	258.0	258.0					21																	34635602		2203	4300	6503	SO:0001819	synonymous_variant	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34635602C>T		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1345C>T	21.37:g.34635602C>T						IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Silent_p.L449L	p.L449L			P48551	INAR2_HUMAN			9	1671	+			449					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Silent	SNP	ENST00000342136.4	37	c.1345C>T	CCDS13621.1																																																																																				0.498	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			56	1480	0	0	0	1	0	56	1480				
KIAA1324L	222223	broad.mit.edu	37	7	86537040	86537040	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86537040A>G	ENST00000450689.2	-	18	2689	c.2504T>C	c.(2503-2505)gTg>gCg	p.V835A	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	835						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTCATTTTCACAGCAGTTGA	0.343																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2503-2505)gTg>gCg		KIAA1324-like							121.0	109.0	113.0					7																	86537040		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86537040A>G	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2504T>C	7.37:g.86537040A>G	ENSP00000413445:p.Val835Ala					KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A	p.V835A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			18	2689	-	Esophageal squamous(14;0.0058)		835					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2504T>C	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952311	0.92660	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.97	5.97	0.96955	Mannose-6-phosphate receptor, binding (1);	0.113441	0.64402	D	0.000010	T	0.19805	0.0476	M	0.78801	2.425	0.80722	D	1	P;P;P	0.52170	0.951;0.925;0.925	P;B;B	0.55112	0.769;0.435;0.435	T	0.00402	-1.1762	10	0.40728	T	0.16	.	13.8398	0.63432	1.0:0.0:0.0:0.0	.	835;595;668	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	A	835;595;764;668	ENSP00000413445:V835A;ENSP00000297222:V595A;ENSP00000397377:V764A;ENSP00000402390:V668A	ENSP00000297222:V595A	V	-	2	0	KIAA1324L	86374976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.130000	0.89598	2.289000	0.77006	0.459000	0.35465	GTG		0.343	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		66	303	0	0	0	1	0	66	303				
TGFBR3	7049	broad.mit.edu	37	1	92200439	92200439	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92200439G>T	ENST00000525962.1	-	4	523	c.462C>A	c.(460-462)ccC>ccA	p.P154P	TGFBR3_ENST00000370399.2_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Silent_p.P154P			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	154					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CATTTCCATGGGGGAAGTTCC	0.413																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(460-462)ccC>ccA		transforming growth factor, beta receptor III							164.0	165.0	165.0					1																	92200439		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92200439G>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.462C>A	1.37:g.92200439G>T						TGFBR3_ENST00000525962.1_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.P154P	p.P154P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	5	927	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	154					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.462C>A	CCDS30770.1																																																																																				0.413	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		153	627	1	0	6.19006e-74	1	7.88378e-74	153	627				
PCNXL3	399909	broad.mit.edu	37	11	65392409	65392409	+	Silent	SNP	G	G	A	rs370523828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65392409G>A	ENST00000355703.3	+	16	3380	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	947						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCACCAGCCCGCTCACGGCAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16273	0.001		0.0	False		,,,				2504	0.0					ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(2839-2841)ccG>ccA		pecanex-like 3 (Drosophila)		G		1,4173		0,1,2086	18.0	21.0	20.0		2841	-10.1	0.3	11		20	0,8422		0,0,4211	no	coding-synonymous	PCNXL3	NM_032223.2		0,1,6297	AA,AG,GG		0.0,0.024,0.0079		947/2035	65392409	1,12595	2087	4211	6298	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65392409G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2841G>A	11.37:g.65392409G>A							p.P947P	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			16	3380	+			947					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.2841G>A	CCDS44650.1																																																																																				0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		27	87	0	0	0	1	0	27	87				
IL18RAP	8807	broad.mit.edu	37	2	103068334	103068334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103068334T>C	ENST00000264260.2	+	12	2082	c.1493T>C	c.(1492-1494)gTg>gCg	p.V498A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V356A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	498	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGCAGCAGTGAATCTTGCC	0.393																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1492-1494)gTg>gCg		interleukin 18 receptor accessory protein							127.0	129.0	129.0					2																	103068334		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068334T>C	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1493T>C	2.37:g.103068334T>C	ENSP00000264260:p.Val498Ala					IL18RAP_ENST00000409369.1_Missense_Mutation_p.V356A	p.V498A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2082	+			498			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1493T>C	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969215	0.74246	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09445	2.98;2.98	6.02	4.86	0.63082	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.097526	0.44688	N	0.000424	T	0.30947	0.0781	M	0.82056	2.57	0.34843	D	0.740879	D	0.64830	0.994	P	0.62298	0.9	T	0.49986	-0.8880	10	0.62326	D	0.03	.	11.8534	0.52423	0.0:0.0677:0.0:0.9323	.	498	O95256	I18RA_HUMAN	A	498;356	ENSP00000264260:V498A;ENSP00000387201:V356A	ENSP00000264260:V498A	V	+	2	0	IL18RAP	102434766	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.227000	0.58612	1.105000	0.41606	0.528000	0.53228	GTG		0.393	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		105	464	0	0	0	1	0	105	464				
SYNE2	23224	broad.mit.edu	37	14	64532312	64532312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532312G>T	ENST00000344113.4	+	51	10587	c.10375G>T	c.(10375-10377)Gag>Tag	p.E3459*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E3492*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E93*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E3459*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3459					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCTGCTAAAGAGTGGGAGAT	0.433																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10375-10377)Gag>Tag		spectrin repeat containing, nuclear envelope 2							169.0	168.0	168.0					14																	64532312		1974	4170	6144	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532312G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10375G>T	14.37:g.64532312G>T	ENSP00000341781:p.Glu3459*					SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E3459*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E93*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E3492*	p.E3459*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10605	+			3459					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.10375G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	52	19.842458	0.99924	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	.	.	.	5.52	4.63	0.57726	.	0.300758	0.28104	N	0.016586	.	.	.	.	.	.	0.34453	D	0.700926	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	10.6066	0.45398	0.1471:0.0:0.8529:0.0	.	.	.	.	X	3459;3459;3492;3492;93	.	ENSP00000261678:E3492X	E	+	1	0	SYNE2	63602065	0.115000	0.22152	0.006000	0.13384	0.973000	0.67179	2.785000	0.47782	1.477000	0.48234	0.585000	0.79938	GAG		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	253	1	0	0.27861	1	0.278732	7	253				
SAMD9L	219285	broad.mit.edu	37	7	92761865	92761865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92761865G>T	ENST00000318238.4	-	5	4636	c.3420C>A	c.(3418-3420)aaC>aaA	p.N1140K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1140					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.N1140N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTCCTACAGTTTTTGTTCC	0.383																																						ENST00000318238.4																			1	Substitution - coding silent(1)	p.N1140N(1)	large_intestine(1)	central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3418-3420)aaC>aaA		sterile alpha motif domain containing 9-like							114.0	118.0	116.0					7																	92761865		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92761865G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3420C>A	7.37:g.92761865G>T	ENSP00000326247:p.Asn1140Lys					SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K	p.N1140K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4636	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1140					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3420C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.018784	0.00418	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20881	2.04;2.04;2.04	4.88	-1.8	0.07907	.	0.250073	0.29369	N	0.012357	T	0.06781	0.0173	N	0.16368	0.405	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.32348	-0.9910	10	0.02654	T	1	-0.4434	1.9203	0.03306	0.1395:0.1944:0.276:0.3901	.	1140	Q8IVG5	SAM9L_HUMAN	K	1140	ENSP00000326247:N1140K;ENSP00000405760:N1140K;ENSP00000408796:N1140K	ENSP00000326247:N1140K	N	-	3	2	SAMD9L	92599801	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.330000	0.02675	-0.013000	0.14199	0.467000	0.42956	AAC		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		168	619	1	0	7.35938e-57	1	9.2123e-57	168	619				
HCAR1	27198	broad.mit.edu	37	12	123214777	123214777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123214777A>G	ENST00000436083.2	-	1	613	c.110T>C	c.(109-111)cTg>cCg	p.L37P	HCAR1_ENST00000432564.1_Missense_Mutation_p.L37P|HCAR1_ENST00000356987.2_Missense_Mutation_p.L37P			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	37					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GAAACCACACAGGGCGACCCC	0.572																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(109-111)cTg>cCg		hydroxycarboxylic acid receptor 1							83.0	70.0	75.0					12																	123214777		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214777A>G	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.110T>C	12.37:g.123214777A>G	ENSP00000409980:p.Leu37Pro					HCAR1_ENST00000436083.2_Missense_Mutation_p.L37P|HCAR1_ENST00000356987.2_Missense_Mutation_p.L37P	p.L37P	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	352	-			37					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.110T>C	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050810	0.75960	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.75938	-0.98;-0.98;-0.98	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	D	0.89008	0.6593	M	0.94142	3.5	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	D	0.91773	0.5429	10	0.87932	D	0	-9.4957	13.1691	0.59587	1.0:0.0:0.0:0.0	.	37	Q9BXC0	HCAR1_HUMAN	P	37	ENSP00000349478:L37P;ENSP00000389255:L37P;ENSP00000409980:L37P	ENSP00000349478:L37P	L	-	2	0	HCAR1	121780730	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	9.071000	0.93980	2.003000	0.58678	0.460000	0.39030	CTG		0.572	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			5	175	0	0	0	1	0	5	175				
ZNF583	147949	broad.mit.edu	37	19	56935280	56935280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935280G>A	ENST00000333201.9	+	5	1463	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AAAGCCTTCAGCCAAATTGCA	0.408																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1252-1254)aGc>aAc		zinc finger protein 583							61.0	63.0	62.0					19																	56935280		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935280G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1253G>A	19.37:g.56935280G>A	ENSP00000388502:p.Ser418Asn					ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N|ZNF583_ENST00000585612.1_Intron	p.S418N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1463	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	418					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1253G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956489	0.53293	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07567	3.18;3.18	4.57	-0.998	0.10212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.13670	0.0331	L	0.48218	1.51	0.09310	N	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.12400	-1.0549	9	.	.	.	.	1.7987	0.03067	0.3461:0.1244:0.4027:0.1268	.	418	Q96ND8	ZN583_HUMAN	N	418	ENSP00000291598:S418N;ENSP00000388502:S418N	.	S	+	2	0	ZNF583	61627092	0.000000	0.05858	0.130000	0.21974	0.997000	0.91878	-4.173000	0.00280	-0.120000	0.11809	0.563000	0.77884	AGC		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		42	264	0	0	0	1	0	42	264				
PRRC2A	7916	broad.mit.edu	37	6	31599424	31599424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31599424G>A	ENST00000376033.2	+	16	3208	c.2974G>A	c.(2974-2976)Ggg>Agg	p.G992R	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G992R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	992	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGGAAGCTAGGGGGCCCCAA	0.572																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2974-2976)Ggg>Agg		proline-rich coiled-coil 2A							16.0	19.0	18.0					6																	31599424		1499	2704	4203	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599424G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2974G>A	6.37:g.31599424G>A	ENSP00000365201:p.Gly992Arg					PRRC2A_ENST00000376007.4_Missense_Mutation_p.G992R	p.G992R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3208	+			992			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2974G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	0.231	-1.020760	0.02061	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01887	4.58;4.58	3.45	3.45	0.39498	.	0.113381	0.40064	N	0.001181	T	0.00754	0.0025	L	0.27053	0.805	0.33162	D	0.547171	B	0.33694	0.421	B	0.26864	0.074	T	0.51608	-0.8684	10	0.87932	D	0	-6.8984	8.5475	0.33430	0.116:0.0:0.884:0.0	.	992	P48634	PRC2A_HUMAN	R	992;981;992;992;217	ENSP00000365175:G992R;ENSP00000365201:G992R	ENSP00000365175:G992R	G	+	1	0	PRRC2A	31707403	0.914000	0.31030	0.720000	0.30636	0.063000	0.16089	3.322000	0.52007	1.784000	0.52394	0.563000	0.77884	GGG		0.572	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		35	130	0	0	0	1	0	35	130				
OGDHL	55753	broad.mit.edu	37	10	50955097	50955097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50955097C>T	ENST00000374103.4	-	9	1230	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCATCTCCACGGTAGAACTG	0.642																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1144-1146)cGt>cAt		oxoglutarate dehydrogenase-like							178.0	156.0	164.0					10																	50955097		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955097C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1145G>A	10.37:g.50955097C>T	ENSP00000363216:p.Arg382His					OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	p.R382H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			9	1230	-			382					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1145G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160670	0.57368	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.14640	2.49;2.49;3.34	5.97	5.07	0.68467	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.14830	0.0358	L	0.58969	1.84	0.80722	D	1	B;B;P	0.41420	0.305;0.052;0.749	B;B;B	0.34652	0.118;0.083;0.187	T	0.03587	-1.1022	10	0.31617	T	0.26	.	15.1812	0.72960	0.0:0.9326:0.0:0.0674	.	325;173;382	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	382;325;173	ENSP00000363216:R382H;ENSP00000401356:R325H;ENSP00000390240:R173H	ENSP00000363216:R382H	R	-	2	0	OGDHL	50625103	1.000000	0.71417	0.990000	0.47175	0.748000	0.42578	7.574000	0.82434	1.542000	0.49330	0.655000	0.94253	CGT		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		79	361	0	0	0	1	0	79	361				
WDR78	79819	broad.mit.edu	37	1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T	rs375562160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	554					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1660-1662)Gtt>Att		WD repeat domain 78		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	104.0	103.0	103.0		1660	4.4	1.0	1		103	0,8600		0,0,4300	no	missense	WDR78	NM_024763.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	554/849	67301382	1,13005	2203	4300	6503	SO:0001583	missense	79819							g.chr1:67301382C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1660G>A	1.37:g.67301382C>T	ENSP00000360065:p.Val554Ile					WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	p.V554I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			11	1715	-			554					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1660G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	2.27E-4	0.0	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67865	1.44;-0.29;-0.29	5.35	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162824	0.53938	D	0.000052	T	0.48114	0.1482	L	0.46157	1.445	0.41589	D	0.988782	P;P	0.40534	0.72;0.599	B;B	0.37833	0.259;0.133	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.4496	14.3454	0.66658	0.0:0.9272:0.0:0.0728	.	300;554	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	I	554;300;320	ENSP00000360065:V554I;ENSP00000393182:V300I;ENSP00000433682:V320I	ENSP00000360065:V554I	V	-	1	0	WDR78	67073970	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	3.904000	0.56325	2.514000	0.84764	0.644000	0.83932	GTT		0.363	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		90	319	0	0	0	1	0	90	319				
PDIA3	2923	broad.mit.edu	37	15	44059072	44059072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44059072C>A	ENST00000300289.5	+	8	1140	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	331					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ATCAGAACTGCTAAAGGAGAG	0.428																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(991-993)gCt>gAt		protein disulfide isomerase family A, member 3							123.0	129.0	127.0					15																	44059072		2198	4298	6496	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44059072C>A		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.992C>A	15.37:g.44059072C>A	ENSP00000300289:p.Ala331Asp					PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	p.A331D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	8	1140	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	331					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.992C>A	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391325	0.42410	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.30714	1.52;1.52	5.74	5.74	0.90152	Thioredoxin-like fold (1);	0.143545	0.64402	D	0.000007	T	0.34571	0.0902	M	0.61703	1.905	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.09377	0.004;0.004	T	0.14952	-1.0454	10	0.18276	T	0.48	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	311;331	G5EA52;P30101	.;PDIA3_HUMAN	D	331;306;105;311	ENSP00000300289:A331D;ENSP00000438260:A311D	ENSP00000300289:A331D	A	+	2	0	PDIA3	41846364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.937000	0.56575	2.683000	0.91414	0.655000	0.94253	GCT		0.428	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		27	573	1	0	1.75199e-13	1	1.89187e-13	27	573				
NAPEPLD	222236	broad.mit.edu	37	7	102760532	102760532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102760532G>T	ENST00000417955.1	-	3	587	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	145					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCCGTGAGAAATATGAGC	0.498																																						ENST00000417955.1																			0				endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(433-435)Ctc>Atc		N-acyl phosphatidylethanolamine phospholipase D							160.0	123.0	136.0					7																	102760532		2203	4300	6503	SO:0001583	missense	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760532G>T	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.433C>A	7.37:g.102760532G>T	ENSP00000407112:p.Leu145Ile					NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I	p.L145I			Q6IQ20	NAPEP_HUMAN			3	587	-			145					Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	c.433C>A	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313779	0.95655	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.81239	2.535	0.80722	D	1	D;D	0.64830	0.994;0.994	D;P	0.67725	0.953;0.889	D	0.95625	0.8684	10	0.56958	D	0.05	-16.9828	20.3334	0.98727	0.0:0.0:1.0:0.0	.	218;145	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	I	145;145;145;145;218	ENSP00000340093:L145I;ENSP00000407112:L145I;ENSP00000419188:L145I;ENSP00000392775:L145I;ENSP00000414364:L218I	ENSP00000340093:L145I	L	-	1	0	NAPEPLD	102547768	1.000000	0.71417	0.868000	0.34077	0.980000	0.70556	8.004000	0.88535	2.818000	0.97014	0.591000	0.81541	CTC		0.498	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		105	351	1	0	4.18329e-38	1	5.03435e-38	105	351				
ESYT3	83850	broad.mit.edu	37	3	138192394	138192394	+	Nonsense_Mutation	SNP	C	C	T	rs200317671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138192394C>T	ENST00000389567.4	+	19	2440	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	752					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGACCTCAGGCGACGGCAGCT	0.557																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2254-2256)Cga>Tga		extended synaptotagmin-like protein 3							107.0	115.0	112.0					3																	138192394		2053	4188	6241	SO:0001587	stop_gained	83850					integral to membrane|plasma membrane		g.chr3:138192394C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2254C>T	3.37:g.138192394C>T	ENSP00000374218:p.Arg752*					ESYT3_ENST00000460133.1_3'UTR	p.R752*	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			19	2440	+			752					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	ENST00000389567.4	37	c.2254C>T	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	38	7.071072	0.98044	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.83	1.96	0.26148	.	1.153470	0.06567	N	0.747700	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-21.8153	8.2911	0.31958	0.4533:0.3999:0.1468:0.0	.	.	.	.	X	752	.	ENSP00000374218:R752X	R	+	1	2	ESYT3	139675084	0.050000	0.20438	0.001000	0.08648	0.012000	0.07955	0.631000	0.24568	0.314000	0.23086	-0.127000	0.14921	CGA		0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		118	606	0	0	0	1	0	118	606				
FRMD1	79981	broad.mit.edu	37	6	168461613	168461613	+	Silent	SNP	G	G	A	rs143590279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168461613G>A	ENST00000283309.6	-	9	1234	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Silent_p.A161A|FRMD1_ENST00000440994.2_Silent_p.A322A	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	390						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGTGGCTGTCGGCGGAGTGGC	0.642																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(1168-1170)gcC>gcT		FERM domain containing 1							53.0	46.0	49.0					6																	168461613		2203	4300	6503	SO:0001819	synonymous_variant	79981					cytoskeleton	binding	g.chr6:168461613G>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1170C>T	6.37:g.168461613G>A						FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.A322A|FRMD1_ENST00000537786.1_Silent_p.A161A	p.A390A	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1234	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	390					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	c.1170C>T	CCDS5306.1																																																																																				0.642	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		29	292	0	0	0	1	0	29	292				
PRTG	283659	broad.mit.edu	37	15	55912364	55912364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55912364C>T	ENST00000389286.4	-	20	3346	c.3299G>A	c.(3298-3300)aGc>aAc	p.S1100N		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTTGAGAAGCTGGTTGTCTG	0.498																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3298-3300)aGc>aAc		protogenin							112.0	110.0	111.0					15																	55912364		1893	4115	6008	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55912364C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3299G>A	15.37:g.55912364C>T	ENSP00000373937:p.Ser1100Asn						p.S1100N	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3346	-			1100						Missense_Mutation	SNP	ENST00000389286.4	37	c.3299G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	8.289	0.817317	0.16607	.	.	ENSG00000166450	ENST00000389286	T	0.53640	0.61	5.84	-0.687	0.11320	.	0.386496	0.30501	N	0.009484	T	0.28167	0.0695	L	0.31294	0.92	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02950	-1.1090	10	0.36615	T	0.2	-6.4774	5.4248	0.16419	0.0:0.3966:0.2439:0.3595	.	1100	Q2VWP7	PRTG_HUMAN	N	1100	ENSP00000373937:S1100N	ENSP00000373937:S1100N	S	-	2	0	PRTG	53699656	0.001000	0.12720	0.912000	0.35992	0.489000	0.33432	-0.035000	0.12205	-0.109000	0.12044	-0.808000	0.03180	AGC		0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		71	387	0	0	0	1	0	71	387				
CST9L	128821	broad.mit.edu	37	20	23549084	23549084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23549084G>T	ENST00000376979.3	-	1	302	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	2						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCAGGCCCAGCATGGTGCTG	0.577																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4-6)Ctg>Atg		cystatin 9-like							58.0	55.0	56.0					20																	23549084		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23549084G>T		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.4C>A	20.37:g.23549084G>T	ENSP00000366178:p.Leu2Met						p.L2M	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			1	302	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		2					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.4C>A	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	8.927	0.962408	0.18583	.	.	ENSG00000101435	ENST00000376979	T	0.14516	2.5	1.94	-3.45	0.04781	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.40440	-0.9563	9	0.21014	T	0.42	.	2.7249	0.05211	0.4778:0.0:0.3052:0.217	.	2	Q9H4G1	CST9L_HUMAN	M	2	ENSP00000366178:L2M	ENSP00000366178:L2M	L	-	1	2	CST9L	23497084	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.321000	0.02697	-0.956000	0.03631	0.313000	0.20887	CTG		0.577	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		9	117	1	0	3.09899e-07	1	3.21319e-07	9	117				
FIZ1	84922	broad.mit.edu	37	19	56104155	56104155	+	Silent	SNP	G	G	A	rs368962867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56104155G>A	ENST00000221665.3	-	3	1241	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	384					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCTCCCCGCCGCCCTCACCGT	0.766																																						ENST00000221665.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(1150-1152)ggC>ggT		FLT3-interacting zinc finger 1		G		0,2658		0,0,1329	6.0	10.0	9.0		1152	-2.3	0.2	19		9	1,6103		0,1,3051	no	coding-synonymous	FIZ1	NM_032836.2		0,1,4380	AA,AG,GG		0.0164,0.0,0.0114		384/497	56104155	1,8761	1329	3052	4381	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56104155G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.1152C>T	19.37:g.56104155G>A							p.G384G	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	1241	-			384					A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.1152C>T	CCDS12928.1																																																																																				0.766	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		28	111	0	0	0	1	0	28	111				
HS3ST1	9957	broad.mit.edu	37	4	11401429	11401429	+	Silent	SNP	C	C	T	rs148222581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11401429C>T	ENST00000002596.5	-	2	1375	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	67					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCAGTGCGCGCGTGCCGCCCT	0.677																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(199-201)acG>acA		heparan sulfate (glucosamine) 3-O-sulfotransferase 1		C		1,4405	2.1+/-5.4	0,1,2202	48.0	40.0	43.0		201	-11.0	0.8	4	dbSNP_134	43	0,8598		0,0,4299	no	coding-synonymous	HS3ST1	NM_005114.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		67/308	11401429	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401429C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.201G>A	4.37:g.11401429C>T							p.T67T	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1375	-			67					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.201G>A	CCDS3408.1																																																																																				0.677	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		52	243	0	0	0	1	0	52	243				
FCGR2A	2212	broad.mit.edu	37	1	161483694	161483694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161483694C>T	ENST00000271450.6	+	6	790	c.752C>T	c.(751-753)aCt>aTt	p.T251I	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	251					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCAATTCCACTGATCCTGTG	0.502																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(751-753)aCt>aTt		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						307.0	302.0	304.0					1																	161483694		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161483694C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.752C>T	1.37:g.161483694C>T	ENSP00000271450:p.Thr251Ile					FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I|FCGR2A_ENST00000467525.1_Intron|FCGR2A_ENST00000461298.1_5'UTR	p.T251I	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	790	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		251					Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.752C>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	9.031	0.987260	0.18889	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01821	4.62;4.62	2.16	0.207	0.15214	.	0.547369	0.14986	N	0.286962	T	0.00695	0.0023	L	0.55481	1.735	0.21604	N	0.999625	P;P	0.43352	0.704;0.804	B;B	0.37550	0.183;0.253	T	0.52631	-0.8550	9	0.45353	T	0.12	.	4.3943	0.11355	0.0:0.6442:0.0:0.3558	.	251;250	P12318;P12318-2	FCG2A_HUMAN;.	I	250;251	ENSP00000356949:T250I;ENSP00000271450:T251I	ENSP00000271450:T251I	T	+	2	0	FCGR2A	159750318	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.148000	0.16224	0.044000	0.15775	-0.291000	0.09656	ACT		0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		34	1143	0	0	0	1	0	34	1143				
SCN5A	6331	broad.mit.edu	37	3	38647544	38647544	+	Silent	SNP	G	G	A	rs45565936	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38647544G>A	ENST00000333535.4	-	10	1385	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SCN5A_ENST00000413689.1_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V|SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	412					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGCCATTGCGACCACGGCCA	0.542													G|||	8	0.00159744	0.0061	0.0	5008	,	,		21884	0.0		0.0	False		,,,				2504	0.0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1234-1236)gtC>gtT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	,,,,,	25,4115		0,25,2045	80.0	84.0	83.0		1236,1236,1236,1236,1236,1236	-6.6	0.9	3	dbSNP_127	83	0,8412		0,0,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,25,6251	AA,AG,GG		0.0,0.6039,0.1992	,,,,,	412/2016,412/2017,412/1999,412/1984,412/1963,412/2017	38647544	25,12527	2070	4206	6276	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38647544G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1236C>T	3.37:g.38647544G>A						SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000333535.4_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V	p.V412V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	10	1429	-	Medulloblastoma(35;0.163)		412					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.1236C>T	CCDS46796.1																																																																																				0.542	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		75	235	0	0	0	1	0	75	235				
CAMTA2	23125	broad.mit.edu	37	17	4883865	4883865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4883865G>T	ENST00000348066.3	-	9	875	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S250Y	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	251					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACTTTGGGAGAGATGATGCG	0.587											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(748-750)tCt>tAt		calmodulin binding transcription activator 2							101.0	110.0	107.0					17																	4883865		2084	4217	6301	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883865G>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.752C>A	17.37:g.4883865G>T	ENSP00000321813:p.Ser251Tyr		OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y|CAMTA2_ENST00000348066.3_Missense_Mutation_p.S251Y|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y	p.S250Y	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			8	1160	-			251					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.749C>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171901	0.78452	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.44083	2.19;1.24;0.93;1.24;1.01	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000007	T	0.50565	0.1623	N	0.24115	0.695	0.46927	D	0.999255	D;D;D;D	0.76494	0.999;0.999;0.996;0.997	D;D;D;D	0.91635	0.997;0.999;0.982;0.997	T	0.56165	-0.8024	10	0.87932	D	0	-16.0601	14.9845	0.71336	0.0:0.0:1.0:0.0	.	274;253;251;250	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Y	274;253;250;251;251	ENSP00000412886:S274Y;ENSP00000370712:S253Y;ENSP00000354828:S250Y;ENSP00000350910:S251Y;ENSP00000321813:S251Y	ENSP00000321813:S251Y	S	-	2	0	CAMTA2	4824589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.388000	0.81334	0.650000	0.86243	TCT		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		89	448	1	0	5.48297e-45	1	6.7172e-45	89	448				
PXDN	7837	broad.mit.edu	37	2	1687462	1687462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1687462C>A	ENST00000252804.4	-	6	576	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	176					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTAAATGTCCCTGGAACTAAA	0.308																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(526-528)Ggg>Tgg		peroxidasin homolog (Drosophila)							45.0	46.0	46.0					2																	1687462		1795	4061	5856	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1687462C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.526G>T	2.37:g.1687462C>A	ENSP00000252804:p.Gly176Trp						p.G176W	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	6	576	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	176					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.526G>T	CCDS46221.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.82|18.82|18.82	3.706140|3.706140|3.706140	0.68615|0.68615|0.68615	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.55413|.|.	0.52;0.92|.|.	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	.|.|.	0.057139|.|.	0.64402|.|.	D|.|.	0.000001|.|.	D|D|D	0.83792|0.83792|0.83792	0.5331|0.5331|0.5331	M|M|M	0.87269|0.87269|0.87269	2.87|2.87|2.87	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.97110|.|.	0.999;1.0|.|.	D|D|D	0.85695|0.85695|0.85695	0.1309|0.1309|0.1309	10|5|5	0.87932|.|.	D|.|.	0|.|.	-32.4813|-32.4813|-32.4813	19.2505|19.2505|19.2505	0.93923|0.93923|0.93923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	176;176|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	W|H|M	176;152|171|99	ENSP00000252804:G176W;ENSP00000398363:G152W|.|.	ENSP00000252804:G176W|.|.	G|Q|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1666469|1666469|1666469	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.428000|0.428000|0.428000	0.26697|0.26697|0.26697	0.491000|0.491000|0.491000	0.33493|0.33493|0.33493	7.505000|7.505000|7.505000	0.81655|0.81655|0.81655	2.542000|2.542000|2.542000	0.85734|0.85734|0.85734	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGG|CAG|AGG		0.308	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	51	1	0	5.50884e-06	1	5.65664e-06	11	51				
FBL	2091	broad.mit.edu	37	19	40327287	40327287	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40327287G>T	ENST00000221801.3	-	7	817	c.704C>A	c.(703-705)gCt>gAt	p.A235D	DYRK1B_ENST00000430012.2_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000348817.3_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	235					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GGCCACATCAGCAAAGATCAC	0.537																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(703-705)gCt>gAt		fibrillarin							106.0	88.0	94.0					19																	40327287		2203	4300	6503	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40327287G>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.704C>A	19.37:g.40327287G>T	ENSP00000221801:p.Ala235Asp					FBL_ENST00000593503.1_5'UTR	p.A235D	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	7	817	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	235					B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.704C>A	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605171	0.87157	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	H	0.95294	3.65	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.69479	0.919;0.964	D	0.90595	0.4540	9	0.87932	D	0	-10.8703	15.0249	0.71663	0.0:0.0:1.0:0.0	.	174;235	Q96BS4;P22087	.;FBRL_HUMAN	D	235	.	ENSP00000221801:A235D	A	-	2	0	FBL	45019127	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.416000	0.97383	2.123000	0.65237	0.655000	0.94253	GCT		0.537	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		49	209	1	0	1.93748e-29	1	2.26412e-29	49	209				
ADAM19	8728	broad.mit.edu	37	5	156945848	156945848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156945848C>T	ENST00000517905.1	-	7	693	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ADAM19_ENST00000257527.4_Missense_Mutation_p.V217M|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M|ADAM19_ENST00000430702.2_De_novo_Start_InFrame			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	217	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATCAGCCACGAGGTAAAGC	0.443																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(649-651)Gtg>Atg		ADAM metallopeptidase domain 19							179.0	177.0	178.0					5																	156945848		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156945848C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.649G>A	5.37:g.156945848C>T	ENSP00000428654:p.Val217Met					ADAM19_ENST00000517905.1_Missense_Mutation_p.V217M|ADAM19_ENST00000430702.2_De_novo_Start_InFrame|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M	p.V217M	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	727	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	217			Peptidase M12B.		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.649G>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.478870	0.84747	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.74315	-0.83;-0.83;-0.83	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000017	D	0.92315	0.7562	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95271	0.8377	10	0.87932	D	0	.	18.0871	0.89461	0.0:1.0:0.0:0.0	.	217	Q9H013-2	.	M	217;219;217	ENSP00000257527:V217M;ENSP00000377588:V219M;ENSP00000428654:V217M	ENSP00000257527:V217M	V	-	1	0	ADAM19	156878426	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.542000	0.73869	2.567000	0.86603	0.655000	0.94253	GTG		0.443	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		200	824	0	0	0	1	0	200	824				
MAPK9	5601	broad.mit.edu	37	5	179666973	179666973	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179666973A>T	ENST00000452135.2	-	10	1309	c.1011T>A	c.(1009-1011)atT>atA	p.I337I	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Silent_p.I252I|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000393360.3_Silent_p.I337I			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	337					cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATCATAAATTTGAGGTG	0.338																																						ENST00000452135.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1009-1011)atT>atA		mitogen-activated protein kinase 9							153.0	143.0	146.0					5																	179666973		2203	4300	6503	SO:0001819	synonymous_variant	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179666973A>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.1011T>A	5.37:g.179666973A>T						MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000347470.4_Silent_p.I252I|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000393360.3_Silent_p.I337I	p.I337I			P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1309	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	337					A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	ENST00000452135.2	37	c.1011T>A	CCDS4453.1																																																																																				0.338	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			69	320	0	0	0	1	0	69	320				
APBB1	322	broad.mit.edu	37	11	6422833	6422833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6422833C>T	ENST00000609360.1	-	10	1573	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	APBB1_ENST00000608655.1_Missense_Mutation_p.A272T|APBB1_ENST00000389906.2_Missense_Mutation_p.A492T|APBB1_ENST00000609331.1_Missense_Mutation_p.A257T|APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000530885.1_Missense_Mutation_p.A270T|APBB1_ENST00000608645.1_Missense_Mutation_p.A233T|APBB1_ENST00000608394.1_Missense_Mutation_p.A233T|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T|APBB1_ENST00000608704.1_Missense_Mutation_p.A233T|APBB1_ENST00000529519.1_Missense_Mutation_p.A17T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	492	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCTGGTGGCGATGTTCTTG	0.582																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1474-1476)Gcc>Acc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							154.0	112.0	126.0					11																	6422833		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422833C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1474G>A	11.37:g.6422833C>T	ENSP00000477213:p.Ala492Thr					APBB1_ENST00000530885.1_Missense_Mutation_p.A270T|APBB1_ENST00000533407.1_Missense_Mutation_p.A231T|APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T	p.A492T	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	9	1573	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	492			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1474G>A		.	.	.	.	.	.	.	.	.	.	C	19.72	3.880540	0.72294	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.15	4.15	0.48705	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.075519	0.51477	N	0.000085	T	0.47002	0.1422	M	0.67700	2.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.985;0.973;1.0	D;B;P;D	0.68483	0.958;0.378;0.497;0.939	T	0.49504	-0.8933	10	0.62326	D	0.03	-3.8853	13.9432	0.64069	0.0:1.0:0.0:0.0	.	95;492;270;490	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	T	490;490;492;341;233;257;270;231	ENSP00000299402:A490T;ENSP00000311912:A490T;ENSP00000374556:A492T;ENSP00000433338:A270T;ENSP00000437114:A231T	ENSP00000299402:A490T	A	-	1	0	APBB1	6379409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.425000	0.80255	2.137000	0.66172	0.591000	0.81541	GCC		0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		43	266	0	0	0	1	0	43	266				
BTNL2	56244	broad.mit.edu	37	6	32369565	32369565	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32369565G>A	ENST00000374993.1	-	4	726	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000454136.3_Silent_p.L243L|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	243	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TACTTACCCAGCTCAGTCTGG	0.468																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(727-729)Ctg>Ttg		butyrophilin-like 2 (MHC class II associated)							49.0	51.0	50.0					6																	32369565		2203	4300	6503	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32369565G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.727C>T	6.37:g.32369565G>A						BTNL2_ENST00000374993.1_Silent_p.L243L|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000540315.1_Intron	p.L243L			Q9UIR0	BTNL2_HUMAN			4	731	-			243			Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.727C>T																																																																																					0.468	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		30	133	0	0	0	1	0	30	133				
RYR3	6263	broad.mit.edu	37	15	33926885	33926885	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926885C>T	ENST00000389232.4	+	25	3196	c.3126C>T	c.(3124-3126)cgC>cgT	p.R1042R	RYR3_ENST00000415757.3_Silent_p.R1042R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1042	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCTGTGCGCACTTTTGTTG	0.463																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3124-3126)cgC>cgT		ryanodine receptor 3							155.0	152.0	153.0					15																	33926885		1927	4141	6068	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33926885C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3126C>T	15.37:g.33926885C>T						RYR3_ENST00000415757.3_Silent_p.R1042R	p.R1042R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	25	3196	+		all_lung(180;7.18e-09)	1042			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.3126C>T	CCDS45210.1																																																																																				0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			98	369	0	0	0	1	0	98	369				
BCL11A	53335	broad.mit.edu	37	2	60688136	60688136	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688136C>T	ENST00000335712.6	-	4	2138	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000356842.4_Silent_p.K637K|BCL11A_ENST00000538214.1_Silent_p.K603K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	637					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCTTCTCGAGCTTGATGCGCT	0.687			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1909-1911)aaG>aaA		B-cell CLL/lymphoma 11A (zinc finger protein)							22.0	25.0	24.0					2																	60688136		2198	4299	6497	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688136C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1911G>A	2.37:g.60688136C>T						BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.K603K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.K637K	p.K637K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2138	-			637					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1911G>A	CCDS1862.1																																																																																				0.687	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		74	255	0	0	0	1	0	74	255				
MEP1A	4224	broad.mit.edu	37	6	46806754	46806754	+	Missense_Mutation	SNP	C	C	T	rs565677690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46806754C>T	ENST00000230588.4	+	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	708	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGGGGGAGCGCTGTCAGGC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19821	0.0		0.0	False		,,,				2504	0.0					ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2122-2124)Cgc>Tgc		meprin A, alpha (PABA peptide hydrolase)							144.0	130.0	135.0					6																	46806754		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806754C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2122C>T	6.37:g.46806754C>T	ENSP00000230588:p.Arg708Cys						p.R708C	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2131	+			708			EGF-like.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.2122C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925138	0.73213	.	.	ENSG00000112818	ENST00000230588	D	0.93811	-3.29	5.8	4.88	0.63580	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.383602	0.31963	N	0.006797	D	0.94417	0.8204	M	0.71036	2.16	0.50039	D	0.999846	D;D	0.76494	0.999;0.996	P;P	0.57283	0.817;0.803	D	0.94627	0.7818	10	0.87932	D	0	-9.3579	14.1676	0.65488	0.2205:0.7795:0.0:0.0	.	736;708	B7ZL91;Q16819	.;MEP1A_HUMAN	C	708	ENSP00000230588:R708C	ENSP00000230588:R708C	R	+	1	0	MEP1A	46914713	0.998000	0.40836	1.000000	0.80357	0.476000	0.33039	2.820000	0.48057	2.751000	0.94390	0.650000	0.86243	CGC		0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		133	643	0	0	0	1	0	133	643				
OR6N1	128372	broad.mit.edu	37	1	158735907	158735907	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158735907C>T	ENST00000335094.2	-	1	585	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CGTATCAGTGCAAGCCAAACT	0.458																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(565-567)tGc>tAc		olfactory receptor, family 6, subfamily N, member 1							109.0	113.0	111.0					1																	158735907		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735907C>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.566G>A	1.37:g.158735907C>T	ENSP00000335535:p.Cys189Tyr						p.C189Y	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	585	-	all_hematologic(112;0.0378)		189					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.566G>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558087	0.65538	.	.	ENSG00000197403	ENST00000335094	T	0.00462	7.26	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000116	T	0.01421	0.0046	M	0.93678	3.445	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.44847	-0.9301	10	0.87932	D	0	-13.5291	16.7399	0.85456	0.0:1.0:0.0:0.0	.	189	Q8NGY5	OR6N1_HUMAN	Y	189	ENSP00000335535:C189Y	ENSP00000335535:C189Y	C	-	2	0	OR6N1	157002531	0.955000	0.32602	1.000000	0.80357	0.966000	0.64601	2.281000	0.43452	2.454000	0.82982	0.655000	0.94253	TGC		0.458	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		120	535	0	0	0	1	0	120	535				
ZNF189	7743	broad.mit.edu	37	9	104170227	104170227	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170227T>C	ENST00000339664.2	+	3	306	c.177T>C	c.(175-177)gaT>gaC	p.D59D	ZNF189_ENST00000374861.3_Silent_p.D45D|ZNF189_ENST00000259395.4_Silent_p.D17D	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGAACAGAGATAAGGATGAGG	0.358																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(133-135)gaT>gaC		zinc finger protein 189							51.0	54.0	53.0					9																	104170227		2202	4300	6502	SO:0001819	synonymous_variant	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170227T>C	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.177T>C	9.37:g.104170227T>C						ZNF189_ENST00000339664.2_Silent_p.D59D|ZNF189_ENST00000259395.4_Silent_p.D17D	p.D45D	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	419	+		Acute lymphoblastic leukemia(62;0.0559)	59			KRAB.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Silent	SNP	ENST00000339664.2	37	c.135T>C	CCDS6754.1																																																																																				0.358	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		13	81	0	0	0	1	0	13	81				
GRM8	2918	broad.mit.edu	37	7	126746697	126746697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:126746697G>A	ENST00000339582.2	-	3	1388	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	194				R -> A (in Ref. 1; AAB72040). {ECO:0000305}.	adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGAACCACTCGAGAGAAAAAG	0.488										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(580-582)Cga>Tga		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						143.0	142.0	142.0					7																	126746697		2203	4300	6503	SO:0001587	stop_gained	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746697G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.580C>T	7.37:g.126746697G>A	ENSP00000344173:p.Arg194*	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*	p.R194*			O00222	GRM8_HUMAN			3	1388	-		Prostate(267;0.186)	194	R -> A (in Ref. 1; AAB72040).				A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	ENST00000339582.2	37	c.580C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	38	7.190590	0.98125	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	.	.	.	4.91	4.02	0.46733	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6223	0.62144	0.0:0.0:0.8439:0.1561	.	.	.	.	X	194;194;194;194;194;4	.	ENSP00000344173:R194X	R	-	1	2	GRM8	126533933	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.990000	0.88215	1.038000	0.40049	0.563000	0.77884	CGA		0.488	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			62	225	0	0	0	1	0	62	225				
ROBO1	6091	broad.mit.edu	37	3	78680428	78680428	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78680428C>A	ENST00000464233.1	-	25	3622	c.3509G>T	c.(3508-3510)aGa>aTa	p.R1170I	ROBO1_ENST00000436010.2_Missense_Mutation_p.R1131I|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1170					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTTGGGTGTTCTTGCCCCTTT	0.468																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3391-3393)aGa>aTa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							164.0	163.0	164.0					3																	78680428		2061	4190	6251	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78680428C>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3509G>T	3.37:g.78680428C>A	ENSP00000420321:p.Arg1170Ile					ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1170I	p.R1131I			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	23	4389	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1170					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3392G>T	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998365|4.998365	0.93227|0.93227	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.90410	.|0.6998	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;B;D;P;B	.|0.69078	.|0.997;0.294;0.973;0.883;0.264	.|D;B;P;B;B	.|0.80764	.|0.994;0.171;0.713;0.272;0.196	.|D	.|0.88927	.|0.3370	.|9	.|.	.|.	.|.	.|.	19.484|19.484	0.95022|0.95022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;1170;1125;1070;1131	.|Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.|.;ROBO1_HUMAN;.;.;.	X|I	97|1131;1125;1170;1125;1070;1174	.|ENSP00000406043:R1131I;ENSP00000420321:R1170I;ENSP00000420637:R1125I;ENSP00000417992:R1070I	.|.	E|R	-|-	1|2	0|0	ROBO1|ROBO1	78763118|78763118	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.932000|0.932000	0.56968|0.56968	7.445000|7.445000	0.80570|0.80570	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.468	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		20	113	1	0	1.36565e-18	1	1.51684e-18	20	113				
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1282-1284)Gcc>Acc		kelch-like family member 10							50.0	50.0	50.0					17																	40001975		2110	4230	6340	SO:0001583	missense	317719					cytoplasm		g.chr17:40001975G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1282G>A	17.37:g.40001975G>A	ENSP00000293303:p.Ala428Thr						p.A428T	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1435	+		Breast(137;0.000162)	428					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1282G>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248200	0.80024	.	.	ENSG00000161594	ENST00000293303	T	0.80214	-1.35	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.202592	0.50627	D	0.000103	D	0.88108	0.6348	M	0.71296	2.17	0.51767	D	0.999933	D;D	0.71674	0.989;0.998	P;P	0.60415	0.627;0.874	D	0.86624	0.1881	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	422;428	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	428	ENSP00000293303:A428T	.	A	+	1	0	KLHL10	37255501	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	3.880000	0.56145	2.885000	0.99019	0.655000	0.94253	GCC		0.498	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		48	198	0	0	0	1	0	48	198				
TSPAN9	10867	broad.mit.edu	37	12	3387723	3387723	+	Missense_Mutation	SNP	C	C	T	rs372946603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3387723C>T	ENST00000011898.5	+	4	361	c.200C>T	c.(199-201)aCg>aTg	p.T67M	TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	67						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GTCATGGTGACGGGCTTCCTC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21127	0.0		0.0	False		,,,				2504	0.0					ENST00000011898.5																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(199-201)aCg>aTg		tetraspanin 9							127.0	114.0	119.0					12																	3387723		2203	4300	6503	SO:0001583	missense	10867					integral to plasma membrane|membrane fraction		g.chr12:3387723C>T	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.200C>T	12.37:g.3387723C>T	ENSP00000011898:p.Thr67Met					TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	p.T67M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	361	+			67					D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	c.200C>T	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805945	0.70682	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.79653	-1.29;-1.29;-1.29	4.98	4.98	0.66077	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.38838	1.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.84440	0.0582	10	0.41790	T	0.15	.	15.7621	0.78091	0.0:1.0:0.0:0.0	.	67	O75954	TSN9_HUMAN	M	67	ENSP00000444799:T67M;ENSP00000011898:T67M;ENSP00000384488:T67M	ENSP00000011898:T67M	T	+	2	0	TSPAN9	3257984	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	4.985000	0.63845	2.314000	0.78098	0.561000	0.74099	ACG		0.577	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		88	397	0	0	0	1	0	88	397				
RBM7	10179	broad.mit.edu	37	11	114278261	114278261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278261G>A	ENST00000540163.1	+	5	1175	c.533G>A	c.(532-534)aGt>aAt	p.S178N	RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S179N|RBM7_ENST00000545678.1_Missense_Mutation_p.S58N|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	178					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CAATCACACAGTCATAGTTTC	0.423																																						ENST00000540163.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(532-534)aGt>aAt		RNA binding motif protein 7							127.0	117.0	120.0					11																	114278261		2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114278261G>A	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.533G>A	11.37:g.114278261G>A	ENSP00000439918:p.Ser178Asn					RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S179N|RBM7_ENST00000545678.1_Missense_Mutation_p.S58N	p.S178N			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	5	1175	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	178					B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.533G>A	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	G	2.582	-0.297191	0.05532	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.28666	1.6;2.56	5.75	-3.26	0.05064	.	0.953562	0.08863	N	0.882799	T	0.14700	0.0355	N	0.14661	0.345	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36817	-0.9732	10	0.13853	T	0.58	-8.5023	9.279	0.37716	0.2992:0.1276:0.5733:0.0	.	178;178	Q6IRX3;Q9Y580	.;RBM7_HUMAN	N	178;179;58	ENSP00000439918:S178N;ENSP00000364639:S179N	ENSP00000364639:S179N	S	+	2	0	RBM7	113783471	0.122000	0.22280	0.380000	0.26093	0.198000	0.23893	0.087000	0.14958	-0.502000	0.06596	-1.078000	0.02229	AGT		0.423	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		116	499	0	0	0	1	0	116	499				
PCDHGA11	56105	broad.mit.edu	37	5	140802413	140802413	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140802413A>G	ENST00000398587.2	+	1	1652	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCGGGGACCCGCCCCTC	0.562																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1618-1620)gAc>gGc									136.0	158.0	151.0					5																	140802413		2203	4300	6503	SO:0001583	missense	0							g.chr5:140802413A>G	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1619A>G	5.37:g.140802413A>G	ENSP00000381589:p.Asp540Gly					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D540G	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1652	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1619A>G	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	a	7.478	0.648163	0.14516	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.49432	0.78;0.78	5.72	4.5	0.54988	Cadherin (4);Cadherin-like (1);	1.020620	0.07964	U	0.982835	T	0.36413	0.0966	N	0.16602	0.42	0.23356	N	0.997842	B;B;B	0.26876	0.071;0.162;0.036	B;B;B	0.28638	0.068;0.092;0.087	T	0.27191	-1.0081	10	0.66056	D	0.02	.	11.175	0.48595	0.6659:0.3341:0.0:0.0	.	540;540;540	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	G	540	ENSP00000381589:D540G;ENSP00000428333:D540G	ENSP00000381589:D540G	D	+	2	0	PCDHGA11	140782597	0.003000	0.15002	0.684000	0.30055	0.018000	0.09664	2.131000	0.42074	2.189000	0.69895	0.533000	0.62120	GAC		0.562	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		236	1108	0	0	0	1	0	236	1108				
ARFGEF1	10565	broad.mit.edu	37	8	68117025	68117025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117025G>A	ENST00000262215.3	-	35	5238	c.4849C>T	c.(4849-4851)Ctg>Ttg	p.L1617L	ARFGEF1_ENST00000520381.1_Silent_p.L1071L|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000518230.1_Silent_p.L455L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1617					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAATCAACAGGGCAGCAAAC	0.383																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4849-4851)Ctg>Ttg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							96.0	88.0	91.0					8																	68117025		2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68117025G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4849C>T	8.37:g.68117025G>A						ARFGEF1_ENST00000518230.1_Silent_p.L455L|ARFGEF1_ENST00000520381.1_Silent_p.L1071L	p.L1617L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		35	5238	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1617					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.4849C>T	CCDS6199.1																																																																																				0.383	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		80	421	0	0	0	1	0	80	421				
PTPRF	5792	broad.mit.edu	37	1	44071037	44071037	+	Silent	SNP	G	G	A	rs149446507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071037G>A	ENST00000359947.4	+	18	3652	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000438120.1_Silent_p.P1095P|PTPRF_ENST00000422171.2_Silent_p.P452P|PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1104					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCACAAGCCGCTGCCTGCCT	0.637													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19061	0.0		0.0	False		,,,				2504	0.0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3310-3312)ccG>ccA		protein tyrosine phosphatase, receptor type, F		A	,	1,4405	2.1+/-5.4	0,1,2202	47.0	51.0	50.0		3312,3285	-10.6	0.0	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1104/1908,1095/1899	44071037	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071037G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3312G>A	1.37:g.44071037G>A						PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000422171.2_Silent_p.P452P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000438120.1_Silent_p.P1095P	p.P1104P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			18	3652	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1104					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3312G>A	CCDS489.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.624|1.624	-0.520643|-0.520643	0.04171|0.04171	2.27E-4|2.27E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.31|5.31	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.39627|0.39627	0.1085|0.1085	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46484|0.46484	-0.9188|-0.9188	4|4	.|.	.|.	.|.	.|.	4.2496|4.2496	0.10688|0.10688	0.5499:0.158:0.1774:0.1148|0.5499:0.158:0.1774:0.1148	.|.	.|.	.|.	.|.	T|H	477;518|750	.|.	.|.	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43843624|43843624	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.287000|0.287000	0.27160|0.27160	-1.888000|-1.888000	0.01616|0.01616	-2.539000|-2.539000	0.00486|0.00486	-1.290000|-1.290000	0.01357|0.01357	GCT|CGC		0.637	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			34	289	0	0	0	1	0	34	289				
CIART	148523	broad.mit.edu	37	1	150255695	150255695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150255695C>T	ENST00000290363.5	+	1	467	c.18C>T	c.(16-18)agC>agT	p.S6S	C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Silent_p.S6S|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		6	Ser-rich.				circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATCTAGCGTTTCTTCCT	0.512																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(16-18)agC>agT		chromosome 1 open reading frame 51							227.0	215.0	219.0					1																	150255695		2203	4298	6501	SO:0001819	synonymous_variant	148523							g.chr1:150255695C>T																												ENST00000290363.5:c.18C>T	1.37:g.150255695C>T						C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Silent_p.S6S|C1orf51_ENST00000469255.1_3'UTR	p.S6S	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	467	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		6			Ser-rich.		B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	ENST00000290363.5	37	c.18C>T	CCDS949.1																																																																																				0.512	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			302	896	0	0	0	1	0	302	896				
TTN	7273	broad.mit.edu	37	2	179395508	179395508	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179395508C>T	ENST00000591111.1	-	308	101135	c.100911G>A	c.(100909-100911)caG>caA	p.Q33637Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Silent_p.Q35278Q|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33637					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)			CTGGGAGGTGCTGAACTTTCT	0.458																																						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.(105832-105834)caG>caA		titin							139.0	137.0	138.0					2																	179395508		1933	4119	6052	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395508C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100911G>A	2.37:g.179395508C>T						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.Q33637Q|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA	p.Q35278Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	106058	-			33637					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.105834G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	200	0	0	0	1	0	10	200				
SACS	26278	broad.mit.edu	37	13	23911291	23911291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23911291C>T	ENST00000382292.3	-	9	6997	c.6724G>A	c.(6724-6726)Gca>Aca	p.A2242T	SACS_ENST00000382298.3_Missense_Mutation_p.A2242T|SACS_ENST00000402364.1_Missense_Mutation_p.A1492T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2242					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTCAGTTGCTGCAAACATG	0.373																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(6724-6726)Gca>Aca		spastic ataxia of Charlevoix-Saguenay (sacsin)							63.0	65.0	65.0					13																	23911291		2202	4299	6501	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911291C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6724G>A	13.37:g.23911291C>T	ENSP00000371729:p.Ala2242Thr					SACS_ENST00000382292.3_Missense_Mutation_p.A2242T|SACS_ENST00000402364.1_Missense_Mutation_p.A1492T	p.A2242T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7312	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2242					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.6724G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995804	0.74703	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88509	-2.24;-2.39;-2.24	5.75	5.75	0.90469	.	0.055383	0.64402	D	0.000001	D	0.92100	0.7496	M	0.61703	1.905	0.48696	D	0.999694	D	0.59357	0.985	P	0.53518	0.728	D	0.92488	0.5998	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	2242	Q9NZJ4	SACS_HUMAN	T	2242;1492;2242	ENSP00000371729:A2242T;ENSP00000385844:A1492T;ENSP00000371735:A2242T	ENSP00000371729:A2242T	A	-	1	0	SACS	22809291	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.584000	0.67490	2.706000	0.92434	0.655000	0.94253	GCA		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		47	220	0	0	0	1	0	47	220				
AREL1	9870	broad.mit.edu	37	14	75130641	75130641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75130641G>A	ENST00000356357.4	-	19	2845	c.2330C>T	c.(2329-2331)gCc>gTc	p.A777V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	777	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGTCGGAGCGGCAATAATCTG	0.542																																						ENST00000356357.4																			0											c.(2329-2331)gCc>gTc		apoptosis resistant E3 ubiquitin protein ligase 1							130.0	139.0	136.0					14																	75130641		2156	4273	6429	SO:0001583	missense	9870							g.chr14:75130641G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2330C>T	14.37:g.75130641G>A	ENSP00000348714:p.Ala777Val					AREL1_ENST00000557401.1_5'UTR	p.A777V	NM_001039479.1	NP_001034568.1					19	2845	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.2330C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700186	0.88924	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.57436	0.4;0.4	5.73	5.73	0.89815	HECT (4);	0.045635	0.85682	D	0.000000	T	0.53351	0.1791	L	0.41124	1.26	0.80722	D	1	P	0.37688	0.605	P	0.44921	0.464	T	0.54057	-0.8350	10	0.54805	T	0.06	.	15.3969	0.74801	0.0:0.1386:0.8614:0.0	.	777	O15033	K0317_HUMAN	V	777;616;616	ENSP00000348714:A777V;ENSP00000452101:A616V	ENSP00000348714:A777V	A	-	2	0	KIAA0317	74200394	1.000000	0.71417	0.917000	0.36280	0.956000	0.61745	5.548000	0.67255	2.711000	0.92665	0.650000	0.86243	GCC		0.542	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		38	589	0	0	0	1	0	38	589				
ZNF347	84671	broad.mit.edu	37	19	53645126	53645126	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645126A>G	ENST00000334197.7	-	5	1023	c.955T>C	c.(955-957)Tgt>Cgt	p.C319R	ZNF347_ENST00000452676.2_Missense_Mutation_p.C320R|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACTCATTACATTTGTAACGT	0.383																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(958-960)Tgt>Cgt		zinc finger protein 347							153.0	145.0	148.0					19																	53645126		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645126A>G	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.955T>C	19.37:g.53645126A>G	ENSP00000334146:p.Cys319Arg					ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.C319R	p.C320R	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1384	-			319					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.958T>C	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696074	0.48202	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85258	-1.96;-1.96	2.85	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94565	0.8249	H	0.98525	4.255	0.37637	D	0.921891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94998	0.8140	9	0.72032	D	0.01	.	9.1425	0.36912	1.0:0.0:0.0:0.0	.	320;319	G5E9N4;Q96SE7	.;ZN347_HUMAN	R	319;320	ENSP00000334146:C319R;ENSP00000405218:C320R	ENSP00000334146:C319R	C	-	1	0	ZNF347	58336938	0.623000	0.27094	0.005000	0.12908	0.003000	0.03518	4.785000	0.62418	1.326000	0.45319	0.533000	0.62120	TGT		0.383	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		68	598	0	0	0	1	0	68	598				
SLC44A5	204962	broad.mit.edu	37	1	75683626	75683626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683626C>T	ENST00000370855.5	-	18	1662	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	517					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A517S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATCCAAATGCTAGGGATCCT	0.289																																						ENST00000370855.5																			1	Substitution - Missense(1)	p.A517S(1)	large_intestine(1)	kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1549-1551)Gca>Aca		solute carrier family 44, member 5							49.0	53.0	52.0					1																	75683626		2203	4299	6502	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75683626C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1549G>A	1.37:g.75683626C>T	ENSP00000359892:p.Ala517Thr					SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T	p.A517T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			18	1662	-			517					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1549G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341665	0.95783	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.30182	1.54;1.54;1.54	5.93	5.93	0.95920	.	0.105434	0.64402	D	0.000004	T	0.64940	0.2644	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.999;0.997;0.999	D;D;D;D;D	0.80764	0.993;0.994;0.993;0.974;0.99	T	0.73401	-0.3994	10	0.62326	D	0.03	-18.1034	20.3261	0.98701	0.0:1.0:0.0:0.0	.	511;556;517;517;556	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	517;556;517;387;510	ENSP00000359896:A517T;ENSP00000359892:A517T;ENSP00000443090:A387T	ENSP00000359892:A517T	A	-	1	0	SLC44A5	75456214	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	GCA		0.289	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		33	130	0	0	0	1	0	33	130				
TEX35	84066	broad.mit.edu	37	1	178489945	178489945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178489945C>T	ENST00000319416.2	+	7	591	c.479C>T	c.(478-480)aCg>aTg	p.T160M	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367639.1_Missense_Mutation_p.T168M|TEX35_ENST00000367641.3_Missense_Mutation_p.T160M|TEX35_ENST00000258298.2_Missense_Mutation_p.T84M|TEX35_ENST00000367643.3_Missense_Mutation_p.T160M	NM_032126.4	NP_115502.2			testis expressed 35																		CACAAGAAGACGATGGCACCA	0.547																																						ENST00000367641.3																			0											c.(478-480)aCg>aTg		testis expressed 35							82.0	80.0	81.0					1																	178489945		2203	4300	6503	SO:0001583	missense	84066							g.chr1:178489945C>T	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.479C>T	1.37:g.178489945C>T	ENSP00000323795:p.Thr160Met					TEX35_ENST00000367643.3_Missense_Mutation_p.T160M|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367639.1_Missense_Mutation_p.T168M|TEX35_ENST00000258298.2_Missense_Mutation_p.T84M|TEX35_ENST00000319416.2_Missense_Mutation_p.T160M	p.T160M							7	538	+									Missense_Mutation	SNP	ENST00000319416.2	37	c.479C>T	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	C	7.044	0.563165	0.13498	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.09	-8.18	0.01053	.	2.124760	0.01894	N	0.038781	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B;B;B	0.20887	0.049;0.049;0.049	B;B;B	0.11329	0.006;0.006;0.006	T	0.19549	-1.0302	10	0.25106	T	0.35	0.302	1.0225	0.01521	0.3358:0.132:0.1119:0.4203	.	168;160;160	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	M	160;84;160;160;168	ENSP00000323795:T160M;ENSP00000258298:T84M;ENSP00000356615:T160M;ENSP00000356613:T160M;ENSP00000356611:T168M	ENSP00000258298:T84M	T	+	2	0	C1orf49	176756568	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.723000	0.01866	-1.638000	0.01529	0.536000	0.68110	ACG		0.547	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		51	207	0	0	0	1	0	51	207				
PTPN23	25930	broad.mit.edu	37	3	47451949	47451949	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47451949C>A	ENST00000265562.4	+	20	2738	c.2661C>A	c.(2659-2661)atC>atA	p.I887I	PTPN23_ENST00000431726.1_Silent_p.I761I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	887	His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGATAGCATCCAGGCGCCCA	0.697																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(2659-2661)atC>atA		protein tyrosine phosphatase, non-receptor type 23							22.0	25.0	24.0					3																	47451949		2202	4297	6499	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47451949C>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2661C>A	3.37:g.47451949C>A						PTPN23_ENST00000431726.1_Silent_p.I761I	p.I887I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2738	+			887			His.|Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.2661C>A	CCDS2754.1																																																																																				0.697	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		20	119	1	0	9.7654e-05	1	9.93505e-05	20	119				
ZFP69	339559	broad.mit.edu	37	1	40960960	40960960	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40960960C>A	ENST00000372706.1	+	6	1816	c.810C>A	c.(808-810)acC>acA	p.T270T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.T270T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAACAAAAACCTATGAATGTA	0.308																																						ENST00000372706.1																			0											c.(808-810)acC>acA		ZFP69 zinc finger protein							42.0	44.0	43.0					1																	40960960		2202	4299	6501	SO:0001819	synonymous_variant	339559							g.chr1:40960960C>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.810C>A	1.37:g.40960960C>A						ZFP69_ENST00000372705.3_Silent_p.T270T|RP11-656D10.3_ENST00000450713.1_RNA	p.T270T							6	1816	+								Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.810C>A	CCDS30686.1																																																																																				0.308	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		29	174	1	0	1.17739e-12	1	1.26592e-12	29	174				
RNF148	378925	broad.mit.edu	37	7	122342708	122342708	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122342708T>G	ENST00000434824.1	-	1	313	c.97A>C	c.(97-99)Aac>Cac	p.N33H	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	33						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GCTTTTCCGTTTGAGTCAGGA	0.423																																						ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(97-99)Aac>Cac		ring finger protein 148							67.0	58.0	61.0					7																	122342708		1868	4104	5972	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342708T>G	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.97A>C	7.37:g.122342708T>G	ENSP00000388207:p.Asn33His					CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	p.N33H	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	313	-			33					A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.97A>C	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	T	6.628	0.484386	0.12641	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04317	3.65	5.4	4.03	0.46877	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.58432	D	0.999999	B;P	0.35600	0.412;0.511	B;B	0.31751	0.128;0.135	T	0.53330	-0.8454	9	0.45353	T	0.12	.	2.4256	0.04459	0.1502:0.0928:0.1556:0.6014	.	33;33	C9JVJ0;Q8N7C7	.;RN148_HUMAN	H	33	ENSP00000388207:N33H	ENSP00000388207:N33H	N	-	1	0	RNF148	122129944	0.037000	0.19845	0.976000	0.42696	0.468000	0.32798	1.444000	0.35068	2.044000	0.60594	0.454000	0.30748	AAC		0.423	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		22	142	0	0	0	1	0	22	142				
KIAA0196	9897	broad.mit.edu	37	8	126093973	126093973	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126093973G>A	ENST00000318410.7	-	5	797	c.448C>T	c.(448-450)Cta>Tta	p.L150L	KIAA0196_ENST00000521109.1_5'Flank|KIAA0196_ENST00000517845.1_Silent_p.L2L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	150					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGACCAGTAGCATAACTCCA	0.408																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(448-450)Cta>Tta		KIAA0196							159.0	134.0	142.0					8																	126093973		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126093973G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.448C>T	8.37:g.126093973G>A						KIAA0196_ENST00000517845.1_Silent_p.L2L	p.L150L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		5	797	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		150					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.448C>T	CCDS6355.1																																																																																				0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		49	287	0	0	0	1	0	49	287				
IGHV3-66	28412	broad.mit.edu	37	14	107131103	107131103	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107131103G>T	ENST00000390632.2	-	0	356									immunoglobulin heavy variable 3-66																		CGTGTTCTTGGAATTGTCTCT	0.532																																						ENST00000390632.2																			0																				106.0	128.0	121.0					14																	107131103		2130	4257	6387			0							g.chr14:107131103G>T	X92218		14q32.33	2012-02-08			ENSG00000211972	ENSG00000211972		"""Immunoglobulins / IGH locus"""	5619	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151880		14.37:g.107131103G>T														0	356	-									RNA	SNP	ENST00000390632.2	37																																																																																						0.532	IGHV3-66-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324225.1	NG_001019		21	1159	1	0	3.41278e-10	1	3.61262e-10	21	1159				
SETD5	55209	broad.mit.edu	37	3	9506325	9506325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9506325C>T	ENST00000406341.1	+	17	2883	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	SETD5_ENST00000402198.1_Missense_Mutation_p.A898V|SETD5_ENST00000402466.1_Missense_Mutation_p.A800V|SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.A917V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	898										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTTACTACTGCTAGTCGCTGC	0.468																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2398-2400)gCt>gTt		SET domain containing 5							137.0	133.0	135.0					3																	9506325		1985	4171	6156	SO:0001583	missense	55209							g.chr3:9506325C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2693C>T	3.37:g.9506325C>T	ENSP00000383939:p.Ala898Val					SETD5_ENST00000407969.1_Missense_Mutation_p.A917V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000402198.1_Missense_Mutation_p.A898V|SETD5_ENST00000406341.1_Missense_Mutation_p.A898V	p.A800V			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	19	3167	+	Medulloblastoma(99;0.227)		898					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2399C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362848	0.82353	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93133	-2.85;-3.17;-2.85;-2.84;-3.17	5.05	5.05	0.67936	.	0.253628	0.38326	N	0.001729	D	0.89853	0.6835	N	0.19112	0.55	0.46954	D	0.999267	P;P;B;P	0.46952	0.887;0.767;0.427;0.884	B;B;B;B	0.43889	0.435;0.273;0.1;0.414	D	0.91383	0.5129	10	0.66056	D	0.02	-16.0861	19.2942	0.94115	0.0:1.0:0.0:0.0	.	567;800;898;917	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	V	898;800;898;917;800	ENSP00000385852:A898V;ENSP00000384429:A800V;ENSP00000383939:A898V;ENSP00000384114:A917V;ENSP00000302028:A800V	ENSP00000302028:A800V	A	+	2	0	SETD5	9481325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.155000	0.71833	2.724000	0.93272	0.655000	0.94253	GCT		0.468	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		100	498	0	0	0	1	0	100	498				
TENC1	23371	broad.mit.edu	37	12	53456960	53456960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53456960G>A	ENST00000314250.6	+	26	4201	c.3911G>A	c.(3910-3912)aGc>aAc	p.S1304N	TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N|TENC1_ENST00000546602.1_Missense_Mutation_p.S1207N	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1304					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAGCTCTGAGCTGTAGCCCC	0.607																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(3910-3912)aGc>aAc		tensin like C1 domain containing phosphatase (tensin 2)							45.0	47.0	47.0					12																	53456960		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53456960G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3911G>A	12.37:g.53456960G>A	ENSP00000319684:p.Ser1304Asn					TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N|TENC1_ENST00000546602.1_Missense_Mutation_p.S1207N	p.S1304N	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			26	4201	+			1304					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.3911G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820665	0.32145	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	3.91	3.01	0.34805	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.410378	0.23215	N	0.050621	T	0.22003	0.0530	L	0.37850	1.14	0.32095	N	0.591301	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.002;0.0;0.003;0.003	T	0.13899	-1.0492	10	0.49607	T	0.09	.	7.4795	0.27395	0.1205:0.0:0.8795:0.0	.	1302;1304;1207;1304;1314	Q63HR2-6;A7E2A6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;.;TENC1_HUMAN;.	N	1180;1314;1304;1294;676;1207;1302;1239	ENSP00000369232:S1180N;ENSP00000319756:S1314N;ENSP00000319684:S1304N;ENSP00000393362:S1294N;ENSP00000449363:S1207N;ENSP00000447021:S1302N;ENSP00000449361:S1239N	ENSP00000319684:S1304N	S	+	2	0	TENC1	51743227	0.973000	0.33851	1.000000	0.80357	0.982000	0.71751	1.105000	0.31086	0.997000	0.38969	0.511000	0.50034	AGC		0.607	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		26	302	0	0	0	1	0	26	302				
APBA2	321	broad.mit.edu	37	15	29385310	29385310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29385310G>A	ENST00000558402.1	+	8	1701	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000561069.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_Missense_Mutation_p.D368N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	368	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGACCTCATCGACGGGATCAT	0.537																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1102-1104)Gac>Aac		amyloid beta (A4) precursor protein-binding, family A, member 2							118.0	107.0	111.0					15																	29385310		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29385310G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1102G>A	15.37:g.29385310G>A	ENSP00000453293:p.Asp368Asn					APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_Missense_Mutation_p.D368N|APBA2_ENST00000561069.1_Missense_Mutation_p.D368N	p.D368N			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	8	1701	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	368			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1102G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303623	0.81136	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.54675	0.56	5.01	5.01	0.66863	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	L	0.46157	1.445	0.80722	D	1	P;P;D;P	0.71674	0.863;0.86;0.998;0.936	B;B;P;B	0.60682	0.255;0.189;0.878;0.425	T	0.66352	-0.5945	10	0.56958	D	0.05	.	17.3238	0.87242	0.0:0.0:1.0:0.0	.	368;72;368;368	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	N	368;368;72	ENSP00000409312:D368N	ENSP00000219865:D368N	D	+	1	0	APBA2	27172602	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.569000	0.98170	2.331000	0.79229	0.555000	0.69702	GAC		0.537	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		42	436	0	0	0	1	0	42	436				
B3GALT4	8705	broad.mit.edu	37	6	33245202	33245202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245202G>A	ENST00000451237.1	+	1	286	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	2					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCACCATGCAGCTCAGGCTCT	0.677																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(4-6)caG>caA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							44.0	49.0	47.0					6																	33245202		2202	4296	6498	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245202G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.6G>A	6.37:g.33245202G>A							p.Q2Q	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	286	+			2						Silent	SNP	ENST00000451237.1	37	c.6G>A	CCDS34425.1																																																																																				0.677	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			116	515	0	0	0	1	0	116	515				
WDR92	116143	broad.mit.edu	37	2	68361924	68361924	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68361924T>G	ENST00000295121.6	-	7	892	c.776A>C	c.(775-777)aAa>aCa	p.K259T	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000406245.2_Missense_Mutation_p.K158T	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	259					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CACAGTAGATTTATGAGCCTA	0.473																																						ENST00000295121.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.(775-777)aAa>aCa		WD repeat domain 92							33.0	38.0	36.0					2																	68361924		2203	4300	6503	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68361924T>G	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.776A>C	2.37:g.68361924T>G	ENSP00000295121:p.Lys259Thr					WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|WDR92_ENST00000406245.2_Missense_Mutation_p.K158T	p.K259T	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN			7	892	-			259					Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.776A>C	CCDS1884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.25|17.25	3.341843|3.341843	0.61073|0.61073	.|.	.|.	ENSG00000243667|ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164|ENST00000457114	D;T;T|.	0.90563|.	-2.69;1.63;-0.13|.	5.65|5.65	5.65|5.65	0.86999|0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61986|0.61986	0.2391|0.2391	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	B|.	0.31931|.	0.347|.	B|.	0.31686|.	0.134|.	T|T	0.59532|0.59532	-0.7437|-0.7437	10|5	0.26408|.	T|.	0.33|.	.|.	14.4531|14.4531	0.67399|0.67399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259|.	Q96MX6|.	WDR92_HUMAN|.	T|H	259;158;259|63	ENSP00000295121:K259T;ENSP00000384518:K158T;ENSP00000386746:K259T|.	ENSP00000295121:K259T|.	K|N	-|-	2|1	0|0	WDR92|WDR92	68215428|68215428	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.909000|0.909000	0.53808|0.53808	8.040000|8.040000	0.89188|0.89188	2.155000|2.155000	0.67459|0.67459	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.473	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		55	284	0	0	0	1	0	55	284				
ERBB3	2065	broad.mit.edu	37	12	56489582	56489582	+	Missense_Mutation	SNP	C	C	T	rs56387488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56489582C>T	ENST00000267101.3	+	17	2487	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W|ERBB3_ENST00000549832.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	683			R -> W (in dbSNP:rs56387488). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATACTTGGAACGGGGTGAGGT	0.443																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2047-2049)Cgg>Tgg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	145.0	132.0	137.0		2047	4.0	1.0	12	dbSNP_129	137	0,8600		0,0,4300	yes	missense	ERBB3	NM_001982.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	683/1343	56489582	1,13005	2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56489582C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2047C>T	12.37:g.56489582C>T	ENSP00000267101:p.Arg683Trp					ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W|ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W	p.R683W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		17	2487	+			683		R -> W (in dbSNP:rs56387488).			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2047C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804868	0.70682	2.27E-4	0.0	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.78595	-1.19;-1.09;-1.18	4.86	3.96	0.45880	.	0.000000	0.56097	D	0.000031	T	0.80116	0.4564	L	0.29908	0.895	0.44579	D	0.997543	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.965	T	0.81385	-0.0957	10	0.87932	D	0	.	10.8559	0.46798	0.4657:0.5343:0.0:0.0	rs56387488	624;683	P21860-4;P21860	.;ERBB3_HUMAN	W	683;40;624	ENSP00000267101:R683W;ENSP00000399178:R40W;ENSP00000408340:R624W	ENSP00000267101:R683W	R	+	1	2	ERBB3	54775849	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.540000	0.23191	1.258000	0.44101	0.655000	0.94253	CGG		0.443	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			93	474	0	0	0	1	0	93	474				
ZNF419	79744	broad.mit.edu	37	19	58004803	58004803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004803G>A	ENST00000221735.7	+	5	1064	c.878G>A	c.(877-879)gGa>gAa	p.G293E	ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|ZNF419_ENST00000424930.2_Missense_Mutation_p.G294E|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E|ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AGTGAATGTGGAAAAGCTTTC	0.418																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(880-882)gGa>gAa		zinc finger protein 419							91.0	90.0	90.0					19																	58004803		2203	4298	6501	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004803G>A	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.878G>A	19.37:g.58004803G>A	ENSP00000221735:p.Gly293Glu					ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E|ZNF419_ENST00000221735.7_Missense_Mutation_p.G293E|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E	p.G294E	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1110	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	293					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.881G>A	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947702	0.53186	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;3.22;2.01;2.01	2.43	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34193	0.0889	L	0.45470	1.425	0.34922	D	0.748533	D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.995;1.0;0.995	P;D;D;D;P;D;P	0.97110	0.665;0.999;1.0;0.999;0.833;0.999;0.833	T	0.46735	-0.9170	9	0.62326	D	0.03	.	8.495	0.33123	0.1393:0.0:0.8607:0.0	.	247;247;280;281;294;261;293	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	E	268;294;281;281;280;294;261;247;293	ENSP00000388864:G294E;ENSP00000390916:G281E;ENSP00000346136:G281E;ENSP00000414709:G280E;ENSP00000299860:G261E;ENSP00000392129:G247E;ENSP00000221735:G293E	ENSP00000221735:G293E	G	+	2	0	ZNF419	62696615	0.998000	0.40836	0.437000	0.26809	0.921000	0.55340	2.382000	0.44345	1.340000	0.45581	0.205000	0.17691	GGA		0.418	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		88	387	0	0	0	1	0	88	387				
AMZ1	155185	broad.mit.edu	37	7	2752047	2752047	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2752047G>A	ENST00000312371.4	+	7	1400	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	AMZ1_ENST00000407112.1_Missense_Mutation_p.A288T|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	344							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGACACCCCGCCTGCCAGCG	0.672																																						ENST00000407112.1																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(862-864)Gcc>Acc		archaelysin family metallopeptidase 1							21.0	26.0	24.0					7																	2752047		2202	4298	6500	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752047G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1032G>A	7.37:g.2752047G>A						AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000312371.4_Silent_p.P344P	p.A288T			Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	6	1175	+		Ovarian(82;0.0779)	0					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.862G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	g	4.290	0.053063	0.08291	.	.	ENSG00000174945	ENST00000407112	T	0.37058	1.22	4.66	-2.71	0.05986	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.29518	-1.0009	8	0.72032	D	0.01	-5.1853	1.1093	0.01700	0.3229:0.1307:0.3488:0.1977	.	288	B3KRS0	.	T	288	ENSP00000386020:A288T	ENSP00000386020:A288T	A	+	1	0	AMZ1	2718573	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	-0.282000	0.08445	-0.480000	0.06803	-0.355000	0.07637	GCC		0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		17	122	0	0	0	1	0	17	122				
ASPM	259266	broad.mit.edu	37	1	197074013	197074013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197074013C>T	ENST00000367409.4	-	18	4624	c.4368G>A	c.(4366-4368)tgG>tgA	p.W1456*	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1456					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTAAATGCCATTCTCTAA	0.284																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4366-4368)tgG>tgA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							79.0	76.0	77.0					1																	197074013		2203	4296	6499	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197074013C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4368G>A	1.37:g.197074013C>T	ENSP00000356379:p.Trp1456*					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.W1456*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	4624	-			1456					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.4368G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	44	11.166462	0.99525	.	.	ENSG00000066279	ENST00000367409	.	.	.	5.27	5.27	0.74061	.	0.172650	0.42172	D	0.000745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:1.0:0.0:0.0	.	.	.	.	X	1456	.	ENSP00000356379:W1456X	W	-	3	0	ASPM	195340636	1.000000	0.71417	0.958000	0.39756	0.821000	0.46438	5.308000	0.65768	2.636000	0.89361	0.484000	0.47621	TGG		0.284	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		29	181	0	0	0	1	0	29	181				
ZDHHC17	23390	broad.mit.edu	37	12	77239492	77239492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239492C>T	ENST00000426126.2	+	13	1982	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	445					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTAACAGATACGAAAACCGGT	0.338																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1333-1335)Cga>Tga		zinc finger, DHHC-type containing 17							153.0	148.0	150.0					12																	77239492		1848	4087	5935	SO:0001587	stop_gained	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77239492C>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1333C>T	12.37:g.77239492C>T	ENSP00000403397:p.Arg445*					ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*|ZDHHC17_ENST00000550789.1_3'UTR	p.R445*	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			13	1982	+			445					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Nonsense_Mutation	SNP	ENST00000426126.2	37	c.1333C>T	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	45	11.485754	0.99567	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	.	.	.	5.48	5.48	0.80851	.	0.067675	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0498	14.5436	0.68013	0.1464:0.8536:0.0:0.0	.	.	.	.	X	445	.	ENSP00000334868:R445X	R	+	1	2	ZDHHC17	75763623	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.723000	0.93209	0.650000	0.86243	CGA		0.338	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		26	408	0	0	0	1	0	26	408				
RTP5	285093	broad.mit.edu	37	2	242814506	242814506	+	Missense_Mutation	SNP	G	G	T	rs568255285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242814506G>T	ENST00000343216.3	+	2	827	c.799G>T	c.(799-801)Gac>Tac	p.D267Y		NM_173821.2	NP_776182.2																					GGCCATTGGAGACCCCCTCTT	0.662																																						ENST00000343216.3																			0											c.(799-801)Gac>Tac		CXXC finger protein 11							34.0	39.0	38.0					2																	242814506		1918	4127	6045	SO:0001583	missense	285093					integral to membrane		g.chr2:242814506G>T																												ENST00000343216.3:c.799G>T	2.37:g.242814506G>T	ENSP00000345374:p.Asp267Tyr						p.D267Y	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	827	+			267						Missense_Mutation	SNP	ENST00000343216.3	37	c.799G>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	11.69	1.712907	0.30413	.	.	ENSG00000188011	ENST00000343216	T	0.25579	1.79	2.79	0.926	0.19430	.	.	.	.	.	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.50708	0.648	T	0.08827	-1.0703	9	0.56958	D	0.05	-1.4578	2.5208	0.04679	0.2641:0.0:0.5009:0.2351	.	267	Q14D33	CB085_HUMAN	Y	267	ENSP00000345374:D267Y	ENSP00000345374:D267Y	D	+	1	0	C2orf85	242463179	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.275000	0.02817	0.252000	0.21531	0.450000	0.29827	GAC		0.662	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			144	378	1	0	7.71122e-83	1	9.87059e-83	144	378				
RELN	5649	broad.mit.edu	37	7	103191616	103191616	+	Missense_Mutation	SNP	G	G	T	rs368566543		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103191616G>T	ENST00000428762.1	-	41	6359	c.6200C>A	c.(6199-6201)tCt>tAt	p.S2067Y	RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y|RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2067					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGCATAAAGAGCTGACGTG	0.597																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6199-6201)tCt>tAt		reelin							78.0	57.0	64.0					7																	103191616		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191616G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6200C>A	7.37:g.103191616G>T	ENSP00000392423:p.Ser2067Tyr					RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y|RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y	p.S2067Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6359	-			2067					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6200C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807492	0.70797	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.7	5.7	0.88788	Neuraminidase (1);	0.114362	0.64402	D	0.000008	T	0.41190	0.1148	L	0.40543	1.245	0.58432	D	0.999993	D;D	0.76494	0.995;0.999	P;D	0.76071	0.823;0.987	T	0.12243	-1.0555	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2067;2067	P78509-2;P78509	.;RELN_HUMAN	Y	2067	ENSP00000392423:S2067Y;ENSP00000345694:S2067Y;ENSP00000388446:S2067Y	ENSP00000345694:S2067Y	S	-	2	0	RELN	102978852	1.000000	0.71417	0.992000	0.48379	0.282000	0.26991	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	TCT		0.597	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		25	206	1	0	3.6726e-16	1	4.02855e-16	25	206				
KIAA0930	23313	broad.mit.edu	37	22	45601152	45601152	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45601152C>A	ENST00000336156.5	-	5	527	c.462G>T	c.(460-462)gaG>gaT	p.E154D	KIAA0930_ENST00000391627.2_Missense_Mutation_p.E120D|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E159D|KIAA0930_ENST00000443310.3_Missense_Mutation_p.E136D	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	154										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCTTGGACTCCTCCCCCTTGC	0.567																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(460-462)gaG>gaT		KIAA0930							178.0	140.0	153.0					22																	45601152		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601152C>A	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.462G>T	22.37:g.45601152C>A	ENSP00000336720:p.Glu154Asp					KIAA0930_ENST00000443310.3_Missense_Mutation_p.E136D|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E159D|KIAA0930_ENST00000391627.2_Missense_Mutation_p.E120D	p.E154D	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			5	527	-			154					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.462G>T	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141118	0.56936	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.39	-3.56	0.04626	.	0.097389	0.64402	D	0.000002	T	0.62368	0.2422	L	0.46741	1.465	0.58432	D	0.999997	D;D;B;P	0.57257	0.979;0.961;0.433;0.659	D;P;B;B	0.71414	0.973;0.63;0.172;0.401	T	0.58624	-0.7604	9	0.30078	T	0.28	-31.1866	12.9675	0.58492	0.0:0.5595:0.0:0.4405	.	136;154;159;225	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	D	154;39;159;120;136;120;136	.	ENSP00000251993:E159D	E	-	3	2	KIAA0930	43979816	0.937000	0.31787	0.916000	0.36221	0.919000	0.55068	0.113000	0.15499	-1.272000	0.02427	-1.134000	0.01955	GAG		0.567	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		71	314	1	0	1.08321e-29	1	1.26665e-29	71	314				
TMED10	10972	broad.mit.edu	37	14	75618848	75618848	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75618848T>C	ENST00000303575.4	-	2	277		c.e2-2			NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		ATCTGTGATCTAAAATAAGAA	0.373																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e2-2		transmembrane emp24-like trafficking protein 10 (yeast)							63.0	59.0	60.0					14																	75618848		2203	4300	6503	SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75618848T>C	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.226-2A>G	14.37:g.75618848T>C								NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	2	277	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	SNP	ENST00000303575.4	37		CCDS9840.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937216	0.73557	.	.	ENSG00000170348	ENST00000303575	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5719	0.76345	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED10	74688601	1.000000	0.71417	0.997000	0.53966	0.752000	0.42762	7.655000	0.83696	2.142000	0.66516	0.459000	0.35465	.		0.373	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	31	213	0	0	0	1	0	31	213				
SMTNL2	342527	broad.mit.edu	37	17	4496307	4496307	+	Missense_Mutation	SNP	C	C	T	rs112578571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4496307C>T	ENST00000389313.4	+	3	638	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47W	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCTCTCCTTGCGGCTGCCCCA	0.622																																						ENST00000389313.4																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(571-573)Cgg>Tgg		smoothelin-like 2							60.0	61.0	60.0					17																	4496307		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4496307C>T	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.571C>T	17.37:g.4496307C>T	ENSP00000373964:p.Arg191Trp					SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47W	p.R191W	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	3	638	+			191					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.571C>T	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886283	0.51908	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.82619	-1.63;-1.63	5.36	3.33	0.38152	.	.	.	.	.	T	0.80539	0.4642	L	0.53249	1.67	0.27916	N	0.938427	D	0.62365	0.991	B	0.43623	0.425	T	0.73014	-0.4116	9	0.72032	D	0.01	-14.6887	12.6341	0.56673	0.0:0.6813:0.3187:0.0	.	191	Q2TAL5	SMTL2_HUMAN	W	47;191	ENSP00000345143:R47W;ENSP00000373964:R191W	ENSP00000345143:R47W	R	+	1	2	SMTNL2	4443056	1.000000	0.71417	0.999000	0.59377	0.788000	0.44548	1.130000	0.31393	0.747000	0.32809	0.650000	0.86243	CGG		0.622	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		30	320	0	0	0	1	0	30	320				
GALR2	8811	broad.mit.edu	37	17	74073063	74073063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74073063C>A	ENST00000329003.3	+	2	805	c.715C>A	c.(715-717)Ctc>Atc	p.L239I	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCATGATCCTCATCGTGGC	0.701																																						ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(715-717)Ctc>Atc		galanin receptor 2							29.0	30.0	29.0					17																	74073063		2203	4298	6501	SO:0001583	missense	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073063C>A	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.715C>A	17.37:g.74073063C>A	ENSP00000329684:p.Leu239Ile						p.L239I	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	805	+			239					A5JUU4|Q32MN8	Missense_Mutation	SNP	ENST00000329003.3	37	c.715C>A	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650894	0.14516	.	.	ENSG00000182687	ENST00000329003	T	0.38401	1.14	4.85	-6.75	0.01738	GPCR, rhodopsin-like superfamily (1);	0.866516	0.09810	N	0.752895	T	0.14743	0.0356	N	0.10685	0.025	0.25763	N	0.98493	B	0.06786	0.001	B	0.12156	0.007	T	0.34825	-0.9813	10	0.17832	T	0.49	.	10.2836	0.43554	0.6392:0.1143:0.2464:0.0	.	239	O43603	GALR2_HUMAN	I	239	ENSP00000329684:L239I	ENSP00000329684:L239I	L	+	1	0	GALR2	71584658	0.363000	0.24989	0.113000	0.21522	0.948000	0.59901	-0.127000	0.10547	-1.413000	0.02027	0.462000	0.41574	CTC		0.701	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			35	160	1	0	2.32173e-10	1	2.46079e-10	35	160				
SPATA7	55812	broad.mit.edu	37	14	88904553	88904553	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88904553C>T	ENST00000393545.4	+	12	1876	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000556553.1_Silent_p.D497D|SPATA7_ENST00000045347.7_Intron	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	529					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTATTTCAGACAGTTTAACAG	0.348																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(1489-1491)gaC>gaT		spermatogenesis associated 7							79.0	76.0	77.0					14																	88904553		2203	4300	6503	SO:0001819	synonymous_variant	55812				response to stimulus|visual perception			g.chr14:88904553C>T	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1587C>T	14.37:g.88904553C>T						SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000393545.4_Silent_p.D529D	p.D497D			Q9P0W8	SPAT7_HUMAN			12	2050	+			529					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	ENST00000393545.4	37	c.1491C>T	CCDS9883.1																																																																																				0.348	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			50	319	0	0	0	1	0	50	319				
C3AR1	719	broad.mit.edu	37	12	8212009	8212009	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8212009A>G	ENST00000307637.4	-	2	976	c.773T>C	c.(772-774)gTa>gCa	p.V258A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	258					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGTTTAAATACATTAGAATA	0.433																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(772-774)gTa>gCa		complement component 3a receptor 1							63.0	66.0	65.0					12																	8212009		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212009A>G	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.773T>C	12.37:g.8212009A>G	ENSP00000302079:p.Val258Ala						p.V258A	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	976	-			258					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.773T>C	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	A	1.748	-0.489924	0.04322	.	.	ENSG00000171860	ENST00000307637	T	0.71222	-0.55	3.99	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	2.097880	0.02844	N	0.128232	T	0.55497	0.1924	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.45234	-0.9275	10	0.72032	D	0.01	.	4.1551	0.10256	0.399:0.3827:0.2183:0.0	.	258	Q16581	C3AR_HUMAN	A	258	ENSP00000302079:V258A	ENSP00000302079:V258A	V	-	2	0	C3AR1	8103276	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	1.092000	0.30927	-0.370000	0.08016	-0.250000	0.11733	GTA		0.433	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			50	309	0	0	0	1	0	50	309				
APH1A	51107	broad.mit.edu	37	1	150240131	150240131	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240131G>A	ENST00000369109.3	-	3	531	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Missense_Mutation_p.R115C	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	115					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCTGGCGGATGGAGATG	0.582																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(343-345)Cgc>Tgc		APH1A gamma secretase subunit							37.0	42.0	40.0					1																	150240131		1968	4158	6126	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150240131G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.343C>T	1.37:g.150240131G>A	ENSP00000358105:p.Arg115Cys					APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.R115C|APH1A_ENST00000414276.2_Intron	p.R115C	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	835	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		115					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.343C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113317	0.77210	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.48522	0.81;0.81;0.81	4.98	4.98	0.66077	.	0.139815	0.49916	D	0.000132	T	0.61677	0.2366	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;D;D	0.65874	0.81;0.857;0.912;0.939	T	0.62120	-0.6921	10	0.40728	T	0.16	-4.3304	15.7896	0.78343	0.0:0.0:1.0:0.0	.	58;115;115;115	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	C	115;115;58	ENSP00000358105:R115C;ENSP00000353380:R115C;ENSP00000236017:R58C	ENSP00000236017:R58C	R	-	1	0	APH1A	148506755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.833000	0.69349	2.583000	0.87209	0.491000	0.48974	CGC		0.582	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		16	82	0	0	0	1	0	16	82				
DDI1	414301	broad.mit.edu	37	11	103907738	103907738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103907738C>T	ENST00000302259.3	+	1	431	c.188C>T	c.(187-189)tCc>tTc	p.S63F	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	63	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCCTGGGCTCCTACGGCCTC	0.582																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(187-189)tCc>tTc		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							151.0	140.0	144.0					11																	103907738		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907738C>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.188C>T	11.37:g.103907738C>T	ENSP00000302805:p.Ser63Phe					PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	p.S63F	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	431	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	63			Ubiquitin-like.		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.188C>T	CCDS31660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.580993|2.580993	0.46006|0.46006	.|.	.|.	ENSG00000170962|ENSG00000170967	ENST00000529268|ENST00000302259	T|T	0.36520|0.74002	1.25|-0.8	4.97|4.97	4.04|4.04	0.47022|0.47022	.|Ubiquitin supergroup (1);Ubiquitin (2);	.|0.318671	.|0.34555	.|N	.|0.003868	D|D	0.83505|0.83505	0.5269|0.5269	M|M	0.75447|0.75447	2.3|2.3	0.30488|0.30488	N|N	0.771676|0.771676	.|D	.|0.69078	.|0.997	.|D	.|0.69824	.|0.966	T|T	0.82246|0.82246	-0.0552|-0.0552	7|10	0.72032|0.72032	D|D	0.01|0.01	-8.519|-8.519	10.7048|10.7048	0.45948|0.45948	0.1902:0.8098:0.0:0.0|0.1902:0.8098:0.0:0.0	.|.	.|63	.|Q8WTU0	.|DDI1_HUMAN	E|F	6|63	ENSP00000432909:G6E|ENSP00000302805:S63F	ENSP00000432909:G6E|ENSP00000302805:S63F	G|S	-|+	2|2	0|0	PDGFD|DDI1	103412948|103412948	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.333000|0.333000	0.28666|0.28666	1.837000|1.837000	0.39201|0.39201	1.417000|1.417000	0.47077|0.47077	0.655000|0.655000	0.94253|0.94253	GGA|TCC		0.582	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		185	768	0	0	0	1	0	185	768				
GRIK2	2898	broad.mit.edu	37	6	102266352	102266352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102266352C>A	ENST00000421544.1	+	9	1801	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	GRIK2_ENST00000369138.1_Silent_p.T437T|GRIK2_ENST00000369134.4_Silent_p.T388T|GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T|GRIK2_ENST00000318991.6_Silent_p.T437T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	437					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTGTTACCACCATTTTGGTAA	0.383																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1309-1311)acC>acA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						181.0	163.0	169.0					6																	102266352		2203	4300	6503	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102266352C>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1311C>A	6.37:g.102266352C>A						GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000421544.1_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T|GRIK2_ENST00000318991.6_Silent_p.T437T|GRIK2_ENST00000369134.4_Silent_p.T388T	p.T437T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1801	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	437					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.1311C>A	CCDS5048.1																																																																																				0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			27	122	1	0	1.17739e-12	1	1.26592e-12	27	122				
MIS18BP1	55320	broad.mit.edu	37	14	45693599	45693599	+	Missense_Mutation	SNP	G	G	T	rs565326614		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45693599G>T	ENST00000310806.4	-	11	2649	c.2191C>A	c.(2191-2193)Ctt>Att	p.L731I		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	731					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCTTTTCAAGGTTAGATATT	0.303																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2191-2193)Ctt>Att		MIS18 binding protein 1							70.0	72.0	71.0					14																	45693599		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693599G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2191C>A	14.37:g.45693599G>T	ENSP00000309790:p.Leu731Ile						p.L731I	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2649	-			731					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2191C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	5.683	0.310554	0.10733	.	.	ENSG00000129534	ENST00000310806	T	0.17370	2.28	5.72	-1.52	0.08637	.	1.308880	0.04551	N	0.389881	T	0.11110	0.0271	N	0.22421	0.69	0.09310	N	1	P	0.38335	0.627	B	0.32022	0.139	T	0.35101	-0.9802	10	0.40728	T	0.16	0.9183	9.64	0.39833	0.5702:0.0:0.4298:0.0	.	731	Q6P0N0	M18BP_HUMAN	I	731	ENSP00000309790:L731I	ENSP00000309790:L731I	L	-	1	0	MIS18BP1	44763349	0.001000	0.12720	0.001000	0.08648	0.045000	0.14185	-0.051000	0.11885	-0.254000	0.09500	-0.150000	0.13652	CTT		0.303	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			84	351	1	0	3.27973e-32	1	3.87147e-32	84	351				
KIAA1407	57577	broad.mit.edu	37	3	113720481	113720481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113720481C>A	ENST00000295878.3	-	13	2270	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	708										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTTCAAGCTGTGCCTCCT	0.443																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2122-2124)caG>caT		KIAA1407							319.0	302.0	308.0					3																	113720481		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113720481C>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2124G>T	3.37:g.113720481C>A	ENSP00000295878:p.Gln708His					KIAA1407_ENST00000545063.1_3'UTR	p.Q708H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			13	2270	-			708					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2124G>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125908	0.56721	.	.	ENSG00000163617	ENST00000295878	T	0.35048	1.33	5.19	-1.44	0.08856	.	0.303015	0.36200	N	0.002729	T	0.47893	0.1470	M	0.72118	2.19	0.50813	D	0.999891	D	0.69078	0.997	P	0.60473	0.875	T	0.45220	-0.9276	10	0.42905	T	0.14	.	9.9535	0.41653	0.0:0.3164:0.0:0.6836	.	708	Q8NCU4	K1407_HUMAN	H	708	ENSP00000295878:Q708H	ENSP00000295878:Q708H	Q	-	3	2	KIAA1407	115203171	0.796000	0.28864	0.651000	0.29564	0.985000	0.73830	-0.007000	0.12810	-0.159000	0.11021	-0.355000	0.07637	CAG		0.443	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		64	786	1	0	6.8682e-38	1	8.26113e-38	64	786				
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(154-156)cGg>cAg		wingless-type MMTV integration site family member 2							54.0	45.0	48.0					7																	116960776		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960776C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.155G>A	7.37:g.116960776C>T	ENSP00000265441:p.Arg52Gln					AC002465.2_ENST00000436097.1_RNA	p.R52Q	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	454	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		52					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.155G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542970	0.96474	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76448	-1.02;-1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.76433	2.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.86304	0.1682	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	52	P09544	WNT2_HUMAN	Q	52	ENSP00000265441:R52Q;ENSP00000419466:R52Q	ENSP00000265441:R52Q	R	-	2	0	WNT2	116748012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.691000	0.91804	0.655000	0.94253	CGG		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		26	114	0	0	0	1	0	26	114				
ANKS3	124401	broad.mit.edu	37	16	4780014	4780014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4780014C>T	ENST00000304283.4	-	3	431	c.137G>A	c.(136-138)gGc>gAc	p.G46D	ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D|RP11-127I20.7_ENST00000588099.1_RNA	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	46										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTCATACTGGCCAATGGAAGC	0.577																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(136-138)gGc>gAc		ankyrin repeat and sterile alpha motif domain containing 3							177.0	158.0	164.0					16																	4780014		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4780014C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.137G>A	16.37:g.4780014C>T	ENSP00000304586:p.Gly46Asp					ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D	p.G46D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			3	431	-			46					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.137G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951772	0.92660	.	.	ENSG00000168096	ENST00000304283	T	0.62232	0.04	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86223	0.1632	10	0.72032	D	0.01	-1.4544	19.0811	0.93182	0.0:1.0:0.0:0.0	.	46	Q6ZW76	ANKS3_HUMAN	D	46	ENSP00000304586:G46D	ENSP00000304586:G46D	G	-	2	0	ANKS3	4720015	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.466000	0.80914	2.756000	0.94617	0.561000	0.74099	GGC		0.577	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		145	792	0	0	0	1	0	145	792				
RB1	5925	broad.mit.edu	37	13	48955427	48955427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48955427C>A	ENST00000267163.4	+	17	1681	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	515	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTGTCTTTCCCATGGATTCT	0.303		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1543-1545)Cca>Aca		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						47.0	46.0	46.0					13																	48955427		2202	4300	6502	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955427C>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1543C>A	13.37:g.48955427C>A	ENSP00000267163:p.Pro515Thr	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.P515T	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1681	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	515			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1543C>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454404	0.84209	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.96073	-3.9	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99010	1.0814	10	0.87932	D	0	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	515	P06400	RB_HUMAN	T	494;515	ENSP00000267163:P515T	ENSP00000267163:P515T	P	+	1	0	RB1	47853428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.488000	0.83962	0.650000	0.86243	CCA		0.303	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			16	85	1	0	2.35188e-11	1	2.50879e-11	16	85				
SPECC1	92521	broad.mit.edu	37	17	20224721	20224721	+	IGR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20224721G>T	ENST00000395530.2	+	0	8133				U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGCGTCAGGAGCCAGGAGGAC	0.632																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:20224721G>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224721G>T						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1	.	.	.	.	.	.	.	.	.	.	.	2.595	-0.294368	0.05568	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	0.361	0.361	0.16107	.	.	.	.	.	T	0.54967	0.1891	.	.	.	0.23581	N	0.997366	.	.	.	.	.	.	T	0.65146	-0.6239	3	0.87932	D	0	.	.	.	.	.	.	.	.	I	31	.	ENSP00000343605:S31I	S	+	2	0	CCDC144C	20165313	0.012000	0.17670	0.004000	0.12327	0.004000	0.04260	0.219000	0.17641	0.406000	0.25560	0.411000	0.27672	AGC		0.632	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		65	242	1	0	7.92265e-33	1	9.37054e-33	65	242				
LRBA	987	broad.mit.edu	37	4	151511917	151511917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151511917G>A	ENST00000357115.3	-	40	6417	c.6174C>T	c.(6172-6174)ggC>ggT	p.G2058G	LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000535741.1_Silent_p.G2047G|LRBA_ENST00000507224.1_Silent_p.G2047G	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2058						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATCATCATCGCCTTCCAGGA	0.428																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6139-6141)ggC>ggT		LPS-responsive vesicle trafficking, beach and anchor containing							122.0	108.0	113.0					4																	151511917		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151511917G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6174C>T	4.37:g.151511917G>A						LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000357115.3_Silent_p.G2058G|LRBA_ENST00000507224.1_Silent_p.G2047G	p.G2047G			P50851	LRBA_HUMAN			39	6614	-	all_hematologic(180;0.151)		2058					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.6141C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228041	0.22542	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.85	1.01	0.19927	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	1.6732	0.02816	0.243:0.103:0.4426:0.2113	.	.	.	.	V	700	.	.	A	-	2	0	LRBA	151731367	0.966000	0.33281	0.999000	0.59377	0.988000	0.76386	0.059000	0.14322	0.081000	0.16988	0.557000	0.71058	GCG		0.428	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			69	267	0	0	0	1	0	69	267				
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175614714C>T	ENST00000261007.5	-	8	1103	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|CHRNA1_ENST00000348749.5_Missense_Mutation_p.R321H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GCTGGGTGAGCGGTGGTGTGT	0.557																																						ENST00000348749.5																			2	Substitution - Missense(2)	p.R346L(2)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(961-963)cGc>cAc		cholinergic receptor, nicotinic, alpha 1 (muscle)							171.0	133.0	146.0					2																	175614714		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175614714C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1037G>A	2.37:g.175614714C>T	ENSP00000261007:p.Arg346His					CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346H	p.R321H	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			7	1039	-			346					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.962G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499947	0.85176	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049415	0.85682	D	0.000000	D	0.94466	0.8219	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94813	0.7980	10	0.87932	D	0	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	321;346	Q53SH4;P02708	.;ACHA_HUMAN	H	321;346;239;321	ENSP00000261008:R321H;ENSP00000261007:R346H;ENSP00000387026:R239H;ENSP00000386611:R321H	ENSP00000261007:R346H	R	-	2	0	CHRNA1	175322960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.815000	0.86186	2.527000	0.85204	0.655000	0.94253	CGC		0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			49	307	0	0	0	1	0	49	307				
KIAA0195	9772	broad.mit.edu	37	17	73495073	73495073	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495073A>G	ENST00000314256.7	+	31	4302	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1303						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGGCCTGGAGGACGTGCCC	0.632																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3907-3909)gAg>gGg		KIAA0195							97.0	76.0	83.0					17																	73495073		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73495073A>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3908A>G	17.37:g.73495073A>G	ENSP00000313885:p.Glu1303Gly					KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G	p.E1303G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		31	4302	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1303					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3908A>G	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311005	0.40895	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.95980	-3.87;-3.87	5.88	3.6	0.41247	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.432209	0.25267	N	0.031907	D	0.82820	0.5120	N	0.01705	-0.755	0.21719	N	0.999576	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.70722	-0.4794	10	0.13108	T	0.6	-14.9627	6.6047	0.22720	0.7138:0.1475:0.1387:0.0	.	1313;1313;1333;1303	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	G	1303;1313	ENSP00000313885:E1303G;ENSP00000364397:E1313G	ENSP00000313885:E1303G	E	+	2	0	KIAA0195	71006668	0.445000	0.25657	1.000000	0.80357	0.955000	0.61496	1.345000	0.33953	2.246000	0.74042	0.533000	0.62120	GAG		0.632	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		12	321	0	0	0	1	0	12	321				
KIDINS220	57498	broad.mit.edu	37	2	8957806	8957806	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8957806T>C	ENST00000256707.3	-	4	429	c.248A>G	c.(247-249)cAt>cGt	p.H83R	KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	83					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATGTGCACATGCCCTTCTTT	0.343																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(247-249)cAt>cGt		kinase D-interacting substrate, 220kDa							191.0	178.0	182.0					2																	8957806		1903	4096	5999	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8957806T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.248A>G	2.37:g.8957806T>C	ENSP00000256707:p.His83Arg					KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R	p.H83R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			4	429	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		83					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.248A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584883	0.65992	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.65732	-0.12;-0.12;-0.17;-0.12;-0.12;-0.12	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	N	0.26162	0.8	0.80722	D	1	D;D;D	0.89917	0.968;0.999;1.0	D;D;D	0.91635	0.969;0.999;0.999	T	0.73094	-0.4091	10	0.72032	D	0.01	.	15.0783	0.72093	0.0:0.0:0.0:1.0	.	83;41;83	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	R	83;83;41;83;83;83	ENSP00000256707:H83R;ENSP00000411849:H83R;ENSP00000414923:H41R;ENSP00000418974:H83R;ENSP00000419964:H83R;ENSP00000319947:H83R	ENSP00000256707:H83R	H	-	2	0	KIDINS220	8875257	1.000000	0.71417	0.915000	0.36163	0.446000	0.32137	6.861000	0.75478	2.199000	0.70637	0.533000	0.62120	CAT		0.343	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		154	488	0	0	0	1	0	154	488				
KIF21B	23046	broad.mit.edu	37	1	200978481	200978481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200978481C>A	ENST00000422435.2	-	2	493	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C|KIF21B_ENST00000332129.2_Missense_Mutation_p.W59C|KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGTTCTTGCCAGGTGTCCA	0.562																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(175-177)tgG>tgT		kinesin family member 21B							135.0	125.0	128.0					1																	200978481		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200978481C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.177G>T	1.37:g.200978481C>A	ENSP00000411831:p.Trp59Cys					KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C|KIF21B_ENST00000422435.2_Missense_Mutation_p.W59C|KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C	p.W59C	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			2	493	-			59			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.177G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955987	0.34471	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.53	4.53	0.55603	Kinesin, motor domain (4);	0.302314	0.33534	N	0.004803	T	0.59155	0.2173	N	0.01576	-0.805	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.983;0.992	P;P;P;P	0.60173	0.87;0.87;0.749;0.794	T	0.71656	-0.4527	10	0.56958	D	0.05	.	13.2344	0.59961	0.0:0.8405:0.1595:0.0	.	59;59;59;59	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	59	ENSP00000328494:W59C;ENSP00000353724:W59C;ENSP00000433808:W59C;ENSP00000411831:W59C	ENSP00000328494:W59C	W	-	3	0	KIF21B	199245104	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.063000	0.49978	2.341000	0.79615	0.650000	0.86243	TGG		0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		77	224	1	0	1.03218e-28	1	1.20291e-28	77	224				
CAMSAP1	157922	broad.mit.edu	37	9	138714825	138714825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714825C>A	ENST00000389532.4	-	11	1746	c.1682G>T	c.(1681-1683)aGg>aTg	p.R561M	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	561					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGTGAGGCCCTGGGGAACTC	0.567																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1681-1683)aGg>aTg		calmodulin regulated spectrin-associated protein 1							133.0	147.0	142.0					9																	138714825		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714825C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1682G>T	9.37:g.138714825C>A	ENSP00000374183:p.Arg561Met					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M	p.R561M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1746	-			561					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1682G>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549591	0.13374	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15256	2.44;2.44;2.44	3.66	3.66	0.41972	.	0.749151	0.12663	N	0.449442	T	0.16257	0.0391	N	0.22421	0.69	0.09310	N	1	P;P	0.51351	0.79;0.944	B;P	0.47981	0.365;0.563	T	0.08166	-1.0735	10	0.87932	D	0	-38.7949	9.8064	0.40795	0.0:0.8848:0.0:0.1152	.	561;572	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	M	561;283;572	ENSP00000374183:R561M;ENSP00000312463:R283M;ENSP00000386420:R572M	ENSP00000312463:R283M	R	-	2	0	CAMSAP1	137854646	0.008000	0.16893	0.005000	0.12908	0.014000	0.08584	1.419000	0.34793	1.575000	0.49775	0.655000	0.94253	AGG		0.567	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		153	926	1	0	3.78446e-69	1	4.80127e-69	153	926				
MON2	23041	broad.mit.edu	37	12	62861091	62861091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62861091T>G	ENST00000393632.2	+	1	495	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000393630.3_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000552738.1_Missense_Mutation_p.V35G|MON2_ENST00000549378.1_3'UTR	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	35					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCCCACCTGTCAAAGAGGTA	0.542																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(103-105)gTc>gGc		MON2 homolog (S. cerevisiae)							64.0	65.0	65.0					12																	62861091		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62861091T>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.104T>G	12.37:g.62861091T>G	ENSP00000377252:p.Val35Gly					MON2_ENST00000552738.1_Missense_Mutation_p.V35G|MON2_ENST00000393632.2_Missense_Mutation_p.V35G|MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G	p.V35G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	1	495	+			35					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.104T>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	31	5.103451	0.94245	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66815	-0.23;-0.22;-0.23;-0.23;-0.22;-0.23;-0.2	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.76575	0.961;0.983;0.983;0.988	T	0.81688	-0.0819	9	.	.	.	-9.4158	14.8857	0.70567	0.0:0.0:0.0:1.0	.	35;35;35;35	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	G	35	ENSP00000377252:V35G;ENSP00000377250:V35G;ENSP00000280379:V35G;ENSP00000447407:V35G;ENSP00000449215:V35G;ENSP00000377249:V35G;ENSP00000446635:V35G	.	V	+	2	0	MON2	61147358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.157000	0.77461	2.206000	0.71126	0.528000	0.53228	GTC		0.542	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		78	324	0	0	0	1	0	78	324				
RDH10	157506	broad.mit.edu	37	8	74234997	74234997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234997C>T	ENST00000240285.5	+	5	1532	c.854C>T	c.(853-855)cCc>cTc	p.P285L	RDH10_ENST00000519380.1_Missense_Mutation_p.P120L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	285					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ACTGACCAGCCCATGATCTGC	0.517																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(853-855)cCc>cTc		retinol dehydrogenase 10 (all-trans)							110.0	98.0	102.0					8																	74234997		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74234997C>T	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.854C>T	8.37:g.74234997C>T	ENSP00000240285:p.Pro285Leu					RDH10_ENST00000519380.1_Missense_Mutation_p.P120L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	p.P285L	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		5	1532	+	Breast(64;0.0954)		285						Missense_Mutation	SNP	ENST00000240285.5	37	c.854C>T	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790810	0.50102	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.88354	-2.37;0.77	5.55	4.68	0.58851	NAD(P)-binding domain (1);	0.051646	0.85682	D	0.000000	D	0.89022	0.6597	L	0.45285	1.41	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	D	0.87264	0.2281	10	0.28530	T	0.3	.	14.653	0.68811	0.0:0.9306:0.0:0.0694	.	285	Q8IZV5	RDH10_HUMAN	L	285;120	ENSP00000240285:P285L;ENSP00000428132:P120L	ENSP00000240285:P285L	P	+	2	0	RDH10	74397551	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.411000	0.44600	1.589000	0.49982	0.591000	0.81541	CCC		0.517	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			64	330	0	0	0	1	0	64	330				
LIPE	3991	broad.mit.edu	37	19	42910490	42910490	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42910490G>T	ENST00000244289.4	-	7	2464	c.2188C>A	c.(2188-2190)Ctc>Atc	p.L730I	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	730					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGAAGCAGAGGTTCCCGCCT	0.657																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2188-2190)Ctc>Atc		lipase, hormone-sensitive							55.0	54.0	55.0					19																	42910490		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910490G>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2188C>A	19.37:g.42910490G>T	ENSP00000244289:p.Leu730Ile					LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	p.L730I	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			7	2464	-		Prostate(69;0.00682)	730					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.2188C>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268992	0.80469	.	.	ENSG00000079435	ENST00000244289	T	0.19938	2.11	4.74	4.74	0.60224	Alpha/beta hydrolase fold-3 (1);	0.208552	0.30959	N	0.008530	T	0.39627	0.1085	M	0.88775	2.98	0.46901	D	0.999244	B	0.24920	0.114	B	0.34590	0.186	T	0.47209	-0.9135	10	0.62326	D	0.03	-21.1728	16.925	0.86174	0.0:0.0:1.0:0.0	.	730	Q05469	LIPS_HUMAN	I	730	ENSP00000244289:L730I	ENSP00000244289:L730I	L	-	1	0	LIPE	47602330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.180000	0.58296	2.367000	0.80283	0.579000	0.79373	CTC		0.657	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		46	220	1	0	6.17242e-35	1	7.35642e-35	46	220				
GSE1	23199	broad.mit.edu	37	16	85701835	85701835	+	Missense_Mutation	SNP	G	G	A	rs376390313		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85701835G>A	ENST00000253458.7	+	14	3396	c.3220G>A	c.(3220-3222)Gcc>Acc	p.A1074T	GSE1_ENST00000405402.2_Missense_Mutation_p.A970T|GSE1_ENST00000393243.1_Missense_Mutation_p.A1001T	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1074																	CTCCAGCCGCGCCCCTCCACC	0.647																																						ENST00000253458.7																			0											c.(3220-3222)Gcc>Acc		Gse1 coiled-coil protein							85.0	90.0	88.0					16																	85701835		2198	4300	6498	SO:0001583	missense	23199							g.chr16:85701835G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3220G>A	16.37:g.85701835G>A	ENSP00000253458:p.Ala1074Thr					GSE1_ENST00000405402.2_Missense_Mutation_p.A970T|GSE1_ENST00000393243.1_Missense_Mutation_p.A1001T	p.A1074T	NM_014615.2	NP_055430.1					14	3396	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.3220G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921705	0.17982	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.31247	1.5;1.5;1.5	5.53	1.14	0.20703	.	0.499109	0.20844	N	0.084654	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	P;P;D;P	0.54047	0.711;0.903;0.964;0.939	B;B;B;B	0.36922	0.112;0.228;0.228;0.236	T	0.18650	-1.0330	10	0.34782	T	0.22	-6.7814	22.498	0.99972	0.0:0.7778:0.2222:0.0	.	837;970;1001;1074	Q59GZ0;Q14687-2;Q14687-3;Q14687	.;.;.;GSE1_HUMAN	T	970;1074;1001	ENSP00000384839:A970T;ENSP00000253458:A1074T;ENSP00000376934:A1001T	ENSP00000253458:A1074T	A	+	1	0	KIAA0182	84259336	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.412000	0.21131	0.006000	0.14734	0.561000	0.74099	GCC		0.647	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		115	631	0	0	0	1	0	115	631				
DDX51	317781	broad.mit.edu	37	12	132625245	132625245	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132625245C>T	ENST00000397333.3	-	10	1514	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	492					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGACCAGCGGCTTAGAGC	0.657																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1474-1476)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							63.0	75.0	71.0					12																	132625245		2071	4207	6278	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625245C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1476G>A	12.37:g.132625245C>T							p.P492P	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	10	1514	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	492					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.1476G>A	CCDS41865.1																																																																																				0.657	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		31	354	0	0	0	1	0	31	354				
DYNC1LI2	1783	broad.mit.edu	37	16	66785491	66785491	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66785491C>A	ENST00000258198.2	-	1	210	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.A2S	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	2					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CCCACCGGCGCCATCTTGCCA	0.756																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(4-6)Gcg>Tcg		dynein, cytoplasmic 1, light intermediate chain 2							13.0	16.0	15.0					16																	66785491		2071	4067	6138	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66785491C>A	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.4G>T	16.37:g.66785491C>A	ENSP00000258198:p.Ala2Ser					DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S	p.A2S	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	1	210	-		Ovarian(137;0.0563)	2					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.4G>T	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576714	0.86645	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	T;T;T;T	0.50277	2.17;0.77;0.75;1.16	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	N	0.08118	0	0.49213	D	0.999766	B;B;P;D	0.63880	0.037;0.001;0.953;0.993	B;B;D;D	0.70227	0.017;0.001;0.935;0.968	T	0.38972	-0.9636	10	0.18276	T	0.48	-9.9804	14.7925	0.69854	0.0:1.0:0.0:0.0	.	2;2;2;2	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	S	2	ENSP00000258198:A2S;ENSP00000368795:A2S;ENSP00000394289:A2S;ENSP00000408566:A2S	ENSP00000258198:A2S	A	-	1	0	DYNC1LI2	65342992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.106000	0.50322	1.985000	0.57927	0.557000	0.71058	GCG		0.756	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		49	205	1	0	9.86064e-34	1	1.16979e-33	49	205				
PDE4DIP	9659	broad.mit.edu	37	1	144882762	144882762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144882762G>A	ENST00000369354.3	-	24	3446	c.3257C>T	c.(3256-3258)aCt>aTt	p.T1086I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1086					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTTACCACAGTCTCAACCAT	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3667-3669)aCt>aTt		phosphodiesterase 4D interacting protein							304.0	272.0	283.0					1																	144882762		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882762G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3257C>T	1.37:g.144882762G>A	ENSP00000358360:p.Thr1086Ile					PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T1086I	p.T1223I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	3706	-			1086					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3668C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672060	0.47781	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01474	4.86;4.86;4.85;4.86	5.27	3.32	0.38043	.	.	.	.	.	T	0.01222	0.0040	L	0.51422	1.61	0.18873	N	0.999989	D	0.56521	0.976	P	0.47864	0.559	T	0.53027	-0.8496	9	0.42905	T	0.14	.	5.7399	0.18087	0.0915:0.0:0.5945:0.314	.	1086	Q5VU43	MYOME_HUMAN	I	1086;1086;1223;1223	ENSP00000358360:T1086I;ENSP00000358363:T1086I;ENSP00000435654:T1223I;ENSP00000358366:T1223I	ENSP00000358360:T1086I	T	-	2	0	PDE4DIP	143594119	0.389000	0.25205	0.098000	0.21074	0.858000	0.48976	1.796000	0.38794	2.742000	0.94016	0.655000	0.94253	ACT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		66	1368	0	0	0	1	0	66	1368				
HMCN1	83872	broad.mit.edu	37	1	186022185	186022185	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186022185A>C	ENST00000271588.4	+	43	6908	c.6679A>C	c.(6679-6681)Aat>Cat	p.N2227H	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2227	Ig-like C2-type 20.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCACCCCCAAATCTCATCTG	0.338																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6679-6681)Aat>Cat		hemicentin 1							97.0	93.0	94.0					1																	186022185		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186022185A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6679A>C	1.37:g.186022185A>C	ENSP00000271588:p.Asn2227His					HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	p.N2227H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			43	6908	+			2227			Ig-like C2-type 20.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6679A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974850	0.34848	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.3	2.85	0.33270	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220495	0.53938	D	0.000048	T	0.48995	0.1531	L	0.31420	0.93	0.24021	N	0.996143	B	0.11235	0.004	B	0.13407	0.009	T	0.38001	-0.9681	10	0.45353	T	0.12	.	5.1565	0.15038	0.638:0.1428:0.2192:0.0	.	2227	Q96RW7	HMCN1_HUMAN	H	2227	ENSP00000271588:N2227H;ENSP00000356462:N2227H	ENSP00000271588:N2227H	N	+	1	0	HMCN1	184288808	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.908000	0.56355	0.273000	0.22049	0.455000	0.32223	AAT		0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		73	377	0	0	0	1	0	73	377				
CHRAC1	54108	broad.mit.edu	37	8	141524478	141524478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141524478T>G	ENST00000220913.5	+	2	360	c.158T>G	c.(157-159)gTt>gGt	p.V53G	CHRAC1_ENST00000519533.1_Intron	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	53					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAGCTCTTTGTTCAATGCCTA	0.353																																						ENST00000220913.5																			0				ovary(2)	2						c.(157-159)gTt>gGt		chromatin accessibility complex 1							56.0	51.0	53.0					8																	141524478		2203	4300	6503	SO:0001583	missense	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141524478T>G	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.158T>G	8.37:g.141524478T>G	ENSP00000220913:p.Val53Gly					CHRAC1_ENST00000519533.1_Intron	p.V53G	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		2	360	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		53						Missense_Mutation	SNP	ENST00000220913.5	37	c.158T>G	CCDS6379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.236441|4.236441	0.79800|0.79800	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000519618|ENST00000220913;ENST00000518971	.|T;T	.|0.52057	.|0.78;0.68	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75852|0.75852	0.3906|0.3906	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.82564|0.82564	-0.0394|-0.0394	5|10	.|0.87932	.|D	.|0	-13.1144|-13.1144	15.4899|15.4899	0.75597|0.75597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|53	.|Q9NRG0	.|CHRC1_HUMAN	V|G	19|53;40	.|ENSP00000220913:V53G;ENSP00000430484:V40G	.|ENSP00000220913:V53G	F|V	+|+	1|2	0|0	CHRAC1|CHRAC1	141593660|141593660	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.900000|0.900000	0.52787|0.52787	6.923000|6.923000	0.75817|0.75817	2.133000|2.133000	0.65898|0.65898	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.353	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		37	183	0	0	0	1	0	37	183				
NRBP1	29959	broad.mit.edu	37	2	27659651	27659651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27659651G>A	ENST00000233557.3	+	9	1525	c.693G>A	c.(691-693)aaG>aaA	p.K231K	NRBP1_ENST00000379863.3_Silent_p.K239K|NRBP1_ENST00000379852.3_Silent_p.K231K			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCATGTGAAGACTTGTCGAG	0.498																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(691-693)aaG>aaA		nuclear receptor binding protein 1							124.0	106.0	112.0					2																	27659651		2203	4300	6503	SO:0001819	synonymous_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27659651G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.693G>A	2.37:g.27659651G>A						NRBP1_ENST00000379852.3_Silent_p.K231K|NRBP1_ENST00000379863.3_Silent_p.K239K	p.K231K			Q9UHY1	NRBP_HUMAN			9	1525	+	Acute lymphoblastic leukemia(172;0.155)		231			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	c.693G>A	CCDS1753.1																																																																																				0.498	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		82	241	0	0	0	1	0	82	241				
HSPB11	51668	broad.mit.edu	37	1	54387388	54387388	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54387388T>G	ENST00000194214.5	-	6	760	c.371A>C	c.(370-372)gAt>gCt	p.D124A	HSPB11_ENST00000489675.1_5'UTR|HSPB11_ENST00000371378.2_Intron	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	124					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TGCAAAATGATCAAAGGCTGA	0.348																																						ENST00000194214.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						c.(370-372)gAt>gCt		heat shock protein family B (small), member 11							120.0	111.0	114.0					1																	54387388		1879	4126	6005	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54387388T>G	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.371A>C	1.37:g.54387388T>G	ENSP00000194214:p.Asp124Ala					HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	p.D124A	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN			6	760	-			124					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.371A>C	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406711	0.62399	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81163	-1.46;-1.46	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.64567	1.98	0.80722	D	1	P	0.50156	0.932	P	0.51701	0.677	T	0.81915	-0.0714	10	0.35671	T	0.21	-25.3596	11.9234	0.52806	0.0:0.0:0.0:1.0	.	124	Q9Y547	HSB11_HUMAN	A	124	ENSP00000194214:D124A;ENSP00000360429:D124A	ENSP00000194214:D124A	D	-	2	0	HSPB11	54159976	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.426000	0.59882	2.089000	0.63090	0.533000	0.62120	GAT		0.348	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	NM_016126		36	335	0	0	0	1	0	36	335				
TRIM35	23087	broad.mit.edu	37	8	27145212	27145212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27145212C>T	ENST00000305364.4	-	6	1420	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H		NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GTGGCAGTGGCGCTCCGCGTC	0.687																																						ENST00000305364.4																			0				breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1336-1338)cGc>cAc		tripartite motif containing 35																																				SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145212C>T	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1337G>A	8.37:g.27145212C>T	ENSP00000301924:p.Arg446His						p.R446H	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1420	-		Ovarian(32;2.61e-05)	446			B30.2/SPRY.		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.1337G>A	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527742	0.44969	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.61392	0.11	5.23	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.338941	0.29572	N	0.011771	T	0.48537	0.1505	L	0.48986	1.54	0.21627	N	0.999612	B	0.06786	0.001	B	0.06405	0.002	T	0.47142	-0.9140	10	0.66056	D	0.02	.	7.9606	0.30068	0.0:0.8115:0.0:0.1885	.	446	Q9UPQ4	TRI35_HUMAN	H	446	ENSP00000301924:R446H	ENSP00000301924:R446H	R	-	2	0	TRIM35	27201129	0.000000	0.05858	0.854000	0.33618	0.525000	0.34531	0.002000	0.13061	0.607000	0.29982	0.462000	0.41574	CGC		0.687	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		16	54	0	0	0	1	0	16	54				
KIF4B	285643	broad.mit.edu	37	5	154393593	154393593	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393593T>C	ENST00000435029.4	+	1	334	c.174T>C	c.(172-174)tgT>tgC	p.C58C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	58	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACCCCTGTACTGAGCAGG	0.502																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(172-174)tgT>tgC		kinesin family member 4B							99.0	98.0	99.0					5																	154393593		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393593T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.174T>C	5.37:g.154393593T>C							p.C58C	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	334	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	58			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.174T>C	CCDS47324.1																																																																																				0.502	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			60	278	0	0	0	1	0	60	278				
C2CD3	26005	broad.mit.edu	37	11	73814473	73814473	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814473C>A	ENST00000334126.7	-	14	2509	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q761H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	761					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCACCAAGTTCTGTGCTTTCT	0.438																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2281-2283)caG>caT		C2 calcium-dependent domain containing 3							206.0	207.0	207.0					11																	73814473		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73814473C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2283G>T	11.37:g.73814473C>A	ENSP00000334379:p.Gln761His					C2CD3_ENST00000313663.7_Missense_Mutation_p.Q761H	p.Q761H			Q4AC94	C2CD3_HUMAN			14	2509	-	Breast(11;4.16e-06)		761					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2283G>T		.	.	.	.	.	.	.	.	.	.	C	12.90	2.077006	0.36662	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11169	2.8;2.83	5.81	2.59	0.31030	.	0.837535	0.11047	N	0.605427	T	0.24470	0.0593	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.07731	-1.0757	10	0.66056	D	0.02	-0.3047	5.2091	0.15307	0.0:0.5886:0.1741:0.2374	.	761	Q4AC94-1	.	H	761	ENSP00000334379:Q761H;ENSP00000323339:Q761H	ENSP00000323339:Q761H	Q	-	3	2	C2CD3	73492121	0.981000	0.34729	0.078000	0.20375	0.089000	0.18198	1.026000	0.30103	1.457000	0.47850	0.650000	0.86243	CAG		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		77	372	1	0	3.12118e-38	1	3.75939e-38	77	372				
SPATA9	83890	broad.mit.edu	37	5	95011277	95011277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95011277C>T	ENST00000274432.8	-	3	358	c.217G>A	c.(217-219)Gca>Aca	p.A73T	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	73					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ATTAATGTTGCTCGATTAATC	0.403																																						ENST00000274432.8																			0				large_intestine(3)|lung(4)	7						c.(217-219)Gca>Aca		spermatogenesis associated 9							195.0	166.0	176.0					5																	95011277		2203	4300	6503	SO:0001583	missense	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95011277C>T	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.217G>A	5.37:g.95011277C>T	ENSP00000274432:p.Ala73Thr					RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T	p.A73T	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	3	358	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	73					A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	c.217G>A	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049475	0.01981	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.45668	0.89	4.91	-1.22	0.09494	.	0.750081	0.12247	N	0.486018	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.14868	-1.0457	10	0.29301	T	0.29	-2.4842	2.8354	0.05513	0.1166:0.4832:0.1141:0.286	.	73	Q9BWV2	SPAT9_HUMAN	T	73	ENSP00000274432:A73T	ENSP00000274432:A73T	A	-	1	0	SPATA9	95037033	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.809000	0.27168	-0.645000	0.05458	-2.879000	0.00098	GCA		0.403	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		47	252	0	0	0	1	0	47	252				
TNKS1BP1	85456	broad.mit.edu	37	11	57076499	57076499	+	Missense_Mutation	SNP	G	G	A	rs139978039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076499G>A	ENST00000532437.1	-	5	3997	c.3686C>T	c.(3685-3687)tCt>tTt	p.S1229F	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1229	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTAACATCAGAAGTCCAGTC	0.582																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3685-3687)tCt>tTt		tankyrase 1 binding protein 1, 182kDa							158.0	171.0	167.0					11																	57076499		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076499G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3686C>T	11.37:g.57076499G>A	ENSP00000437271:p.Ser1229Phe					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F	p.S1229F			Q9C0C2	TB182_HUMAN			5	3997	-		all_epithelial(135;0.21)	1229			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3686C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185709	0.38609	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33438	1.41;1.41	5.05	0.667	0.17907	.	0.907000	0.09290	N	0.822392	T	0.39911	0.1096	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	P	0.59825	0.864	T	0.22173	-1.0224	10	0.72032	D	0.01	-3.2115	4.4738	0.11726	0.0804:0.2886:0.482:0.1489	.	1229	Q9C0C2	TB182_HUMAN	F	1229	ENSP00000350990:S1229F;ENSP00000437271:S1229F	ENSP00000350990:S1229F	S	-	2	0	TNKS1BP1	56833075	0.043000	0.20138	0.017000	0.16124	0.501000	0.33797	0.663000	0.25053	0.152000	0.19188	0.462000	0.41574	TCT		0.582	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		355	1395	0	0	0	1	0	355	1395				
PHLDB2	90102	broad.mit.edu	37	3	111658364	111658364	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658364C>A	ENST00000431670.2	+	7	2584	c.2173C>A	c.(2173-2175)Ctg>Atg	p.L725M	PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.L311M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	725						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTTTGAAGACCTGGAGTTCCA	0.428																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2173-2175)Ctg>Atg		pleckstrin homology-like domain, family B, member 2							124.0	118.0	120.0					3																	111658364		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111658364C>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2173C>A	3.37:g.111658364C>A	ENSP00000405405:p.Leu725Met					PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.L311M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M	p.L725M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			7	2584	+			725					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.2173C>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613049	0.66672	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.60672	0.54;0.17;0.55;0.64;0.17;0.55;1.44	5.53	1.7	0.24286	.	0.000000	0.64402	D	0.000007	T	0.67720	0.2923	M	0.64567	1.98	0.43430	D	0.995596	D;D;D;D	0.76494	0.989;0.998;0.999;0.984	P;D;D;D	0.68039	0.78;0.95;0.955;0.926	T	0.65705	-0.6103	10	0.62326	D	0.03	.	9.5472	0.39288	0.0:0.7006:0.0:0.2994	.	311;725;682;709	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	M	709;709;725;682;682;725;682;311	ENSP00000377500:L709M;ENSP00000405405:L725M;ENSP00000405292:L682M;ENSP00000418296:L682M;ENSP00000377502:L725M;ENSP00000418319:L682M;ENSP00000420303:L311M	ENSP00000352764:L709M	L	+	1	2	PHLDB2	113141054	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.150000	0.31639	0.090000	0.17273	0.650000	0.86243	CTG		0.428	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		84	377	1	0	5.01443e-46	1	6.15577e-46	84	377				
ASAP3	55616	broad.mit.edu	37	1	23760792	23760792	+	Missense_Mutation	SNP	C	C	T	rs113419927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23760792C>T	ENST00000336689.3	-	19	1950	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N|ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	636					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TTGAGGCAGTCGGGCTGGTTG	0.582																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(1906-1908)Gac>Aac		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							128.0	112.0	117.0					1																	23760792		2203	4300	6503	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23760792C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1906G>A	1.37:g.23760792C>T	ENSP00000338769:p.Asp636Asn					ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N|ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N	p.D636N	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			19	1950	-			636					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.1906G>A	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291951	0.40594	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000437606	T;T;T	0.66099	-0.19;-0.19;-0.19	4.0	3.08	0.35506	Ankyrin repeat-containing domain (4);	0.213938	0.37623	N	0.002014	T	0.45397	0.1340	L	0.28556	0.865	0.39951	D	0.97454	P;P;B;B	0.40066	0.701;0.683;0.379;0.407	B;B;B;B	0.36378	0.076;0.16;0.223;0.151	T	0.49390	-0.8945	10	0.62326	D	0.03	.	8.3007	0.32012	0.0:0.7986:0.0:0.2014	.	627;505;159;636	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	N	159;140;636;627	ENSP00000436150:D140N;ENSP00000338769:D636N;ENSP00000408826:D627N	ENSP00000338769:D636N	D	-	1	0	ASAP3	23633379	0.997000	0.39634	0.980000	0.43619	0.250000	0.25880	3.464000	0.53057	1.027000	0.39758	0.297000	0.19635	GAC		0.582	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		69	329	0	0	0	1	0	69	329				
GSTCD	79807	broad.mit.edu	37	4	106640301	106640301	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640301A>G	ENST00000515279.1	+	3	731	c.511A>G	c.(511-513)Act>Gct	p.T171A	GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	171	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CCAGCCCCCAACTATACCTGT	0.423																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(511-513)Act>Gct		glutathione S-transferase, C-terminal domain containing							84.0	95.0	92.0					4																	106640301		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640301A>G	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.511A>G	4.37:g.106640301A>G	ENSP00000422354:p.Thr171Ala					GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A|GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A	p.T171A			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	731	+		Hepatocellular(203;0.217)	171			GST C-terminal.		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.511A>G	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	0.071	-1.202745	0.01581	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	-10.3	0.00346	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.899655	0.09733	N	0.762952	T	0.18923	0.0454	L	0.28504	0.86	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.17228	-1.0376	9	0.10111	T	0.7	-14.6755	6.6856	0.23144	0.3021:0.0757:0.4727:0.1494	.	84;171	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	A	84;84;171;171;171	.	ENSP00000353695:T171A	T	+	1	0	GSTCD	106859750	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.378000	0.02556	-1.941000	0.01042	-0.417000	0.06048	ACT		0.423	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		143	491	0	0	0	1	0	143	491				
CTNNB1	1499	broad.mit.edu	37	3	41266622	41266622	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41266622T>A	ENST00000349496.5	+	4	699	c.419T>A	c.(418-420)aTt>aAt	p.I140N	CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	140					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTAAACTTGATTAACTATCAA	0.438		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	22	Deletion - In frame(16)|Complex - deletion inframe(6)	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	liver(21)|skin(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(418-420)aTt>aAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						143.0	126.0	131.0					3																	41266622		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266622T>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.419T>A	3.37:g.41266622T>A	ENSP00000344456:p.Ile140Asn					CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N	p.I140N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	699	+			140					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.419T>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018389	0.75275	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T;T	0.65549	-0.16;0.94;-0.16;-0.16;-0.16;-0.16	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.973	T	0.81586	-0.0865	10	0.62326	D	0.03	-26.5655	15.7251	0.77751	0.0:0.0:0.0:1.0	.	68;140	B4DSW9;P35222	.;CTNB1_HUMAN	N	140;140;140;140;133;140	ENSP00000385604:I140N;ENSP00000412219:I140N;ENSP00000379486:I140N;ENSP00000344456:I140N;ENSP00000411226:I133N;ENSP00000379488:I140N	ENSP00000344456:I140N	I	+	2	0	CTNNB1	41241626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.175000	0.68902	0.533000	0.62120	ATT		0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		81	267	0	0	0	1	0	81	267				
MAP1B	4131	broad.mit.edu	37	5	71491850	71491850	+	Missense_Mutation	SNP	G	G	A	rs139604402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71491850G>A	ENST00000296755.7	+	5	2966	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	890					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGTCCTGCCGAGTCCCCTGA	0.542																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2668-2670)Gag>Aag		microtubule-associated protein 1B		G	LYS/GLU	0,4406		0,0,2203	106.0	109.0	108.0		2668	5.4	1.0	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MAP1B	NM_005909.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	890/2469	71491850	1,13005	2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491850G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2668G>A	5.37:g.71491850G>A	ENSP00000296755:p.Glu890Lys						p.E890K	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2966	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	890					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2668G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861569	0.91433	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03920	3.76	5.44	5.44	0.79542	.	0.187730	0.37761	N	0.001952	T	0.10121	0.0248	L	0.52573	1.65	0.80722	D	1	D;D	0.56521	0.976;0.957	P;B	0.46275	0.51;0.267	T	0.01269	-1.1400	10	0.66056	D	0.02	-21.0008	19.2467	0.93905	0.0:0.0:1.0:0.0	.	764;890	A2BDK6;P46821	.;MAP1B_HUMAN	K	890	ENSP00000296755:E890K	ENSP00000296755:E890K	E	+	1	0	MAP1B	71527606	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	8.012000	0.88631	2.557000	0.86248	0.591000	0.81541	GAG		0.542	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		142	627	0	0	0	1	0	142	627				
GRIN2A	2903	broad.mit.edu	37	16	9858386	9858386	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9858386T>G	ENST00000396573.2	-	14	3324	c.3015A>C	c.(3013-3015)aaA>aaC	p.K1005N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1005					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGAGTTCGCTTTGGATTCTG	0.507																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3013-3015)aaA>aaC		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						95.0	93.0	94.0					16																	9858386		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858386T>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3015A>C	16.37:g.9858386T>G	ENSP00000379818:p.Lys1005Asn					GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N	p.K1005N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3324	-			1005					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3015A>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	6.706	0.498927	0.12762	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12465	2.69;2.68;2.68;2.69;2.69	5.33	-2.16	0.07080	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.138656	0.64402	D	0.000005	T	0.13841	0.0335	L	0.51422	1.61	0.29012	N	0.886792	B;P;P	0.39576	0.358;0.679;0.611	B;B;B	0.43413	0.106;0.248;0.419	T	0.11494	-1.0585	9	.	.	.	.	10.8181	0.46589	0.0:0.4309:0.0:0.569	.	848;1005;1005	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1005;1005;848;1005;1005	ENSP00000379818:K1005N;ENSP00000385872:K1005N;ENSP00000441572:K848N;ENSP00000332549:K1005N;ENSP00000379820:K1005N	.	K	-	3	2	GRIN2A	9765887	0.876000	0.30132	0.497000	0.27552	0.541000	0.35023	0.365000	0.20348	-0.475000	0.06852	0.533000	0.62120	AAA		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			112	394	0	0	0	1	0	112	394				
MTMR9	66036	broad.mit.edu	37	8	11157552	11157552	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11157552C>A	ENST00000221086.3	+	3	785	c.312C>A	c.(310-312)tcC>tcA	p.S104S	MTMR9_ENST00000526292.1_Silent_p.S19S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	104						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTCTGGACTCCATCACTCTGA	0.383																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(310-312)tcC>tcA		myotubularin related protein 9							186.0	175.0	179.0					8																	11157552		2203	4300	6503	SO:0001819	synonymous_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11157552C>A	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.312C>A	8.37:g.11157552C>A						MTMR9_ENST00000526292.1_Silent_p.S19S	p.S104S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	3	785	+			104					B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	c.312C>A	CCDS5979.1																																																																																				0.383	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		33	845	1	0	1.06647e-15	1	1.16694e-15	33	845				
MAPK8IP3	23162	broad.mit.edu	37	16	1816924	1816924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1816924C>A	ENST00000250894.4	+	25	3194	c.3037C>A	c.(3037-3039)Ctg>Atg	p.L1013M	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1013					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGCCGTGTGCTGGTGGCTCT	0.697																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3037-3039)Ctg>Atg		mitogen-activated protein kinase 8 interacting protein 3							53.0	60.0	57.0					16																	1816924		2100	4210	6310	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1816924C>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3037C>A	16.37:g.1816924C>A	ENSP00000250894:p.Leu1013Met					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	p.L1013M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			25	3194	+			1013					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3037C>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921714	0.73213	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.38887	1.11;1.11	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.176079	0.38436	N	0.001696	T	0.64702	0.2622	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.989;0.993;0.998	T	0.71115	-0.4686	10	0.72032	D	0.01	-15.1615	16.1662	0.81757	0.0:1.0:0.0:0.0	.	1014;1007;1013	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	M	1013;1007	ENSP00000250894:L1013M;ENSP00000348290:L1007M	ENSP00000250894:L1013M	L	+	1	2	MAPK8IP3	1756925	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.686000	0.54685	1.976000	0.57569	0.591000	0.81541	CTG		0.697	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		84	432	1	0	3.04226e-33	1	3.60366e-33	84	432				
AGRN	375790	broad.mit.edu	37	1	989228	989228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989228C>T	ENST00000379370.2	+	34	5797	c.5747C>T	c.(5746-5748)gCa>gTa	p.A1916V	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1938	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACGGAGCGGGCAGACTATGTG	0.642																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5746-5748)gCa>gTa		agrin							53.0	41.0	45.0					1																	989228		2200	4298	6498	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:989228C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5747C>T	1.37:g.989228C>T	ENSP00000368678:p.Ala1916Val						p.A1916V	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	34	5797	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1916			Laminin G-like 3.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5747C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150289	0.57151	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.79653	-1.29	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.184656	0.35151	N	0.003403	T	0.78761	0.4334	L	0.29908	0.895	0.50039	D	0.99984	P	0.47253	0.892	P	0.51055	0.657	T	0.77446	-0.2585	10	0.30078	T	0.28	-7.4485	16.7343	0.85443	0.0:1.0:0.0:0.0	.	1916	O00468	AGRIN_HUMAN	V	1916;278	ENSP00000368678:A1916V	ENSP00000368671:A278V	A	+	2	0	AGRN	979091	1.000000	0.71417	0.574000	0.28523	0.013000	0.08279	7.574000	0.82434	2.042000	0.60477	0.462000	0.41574	GCA		0.642	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		15	55	0	0	0	1	0	15	55				
FMNL3	91010	broad.mit.edu	37	12	50055822	50055822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50055822C>T	ENST00000293590.5	-	5	612	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000335154.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K			Q8IVF7	FMNL3_HUMAN	formin-like 3	127	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAGAAATTCCCGCACCCAC	0.527																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(379-381)Gaa>Aaa		formin-like 3							90.0	90.0	90.0					12																	50055822		1934	4137	6071	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50055822C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.379G>A	12.37:g.50055822C>T	ENSP00000293590:p.Glu127Lys					FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000293590.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K	p.E127K	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			5	612	-			127			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.349590	0.82132	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.41	4.41	0.53225	.	0.057003	0.64402	D	0.000002	D	0.93239	0.7846	M	0.68593	2.085	0.80722	D	1	D;B	0.67145	0.996;0.055	D;B	0.73708	0.981;0.034	D	0.93275	0.6655	10	0.51188	T	0.08	.	16.2917	0.82756	0.0:1.0:0.0:0.0	.	127;127	Q8IVF7-2;Q8IVF7-3	.;.	K	127	ENSP00000335655:E127K;ENSP00000447479:E127K;ENSP00000344311:E127K;ENSP00000293590:E127K	ENSP00000293590:E127K	E	-	1	0	FMNL3	48342089	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.587000	0.82613	2.460000	0.83146	0.462000	0.41574	GAA		0.527	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		66	248	0	0	0	1	0	66	248				
SYNE1	23345	broad.mit.edu	37	6	152485435	152485435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152485435C>T	ENST00000367255.5	-	131	24254	c.23653G>A	c.(23653-23655)Gta>Ata	p.V7885I	SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7885					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACGGCTACCAGGGTCTCC	0.552										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23653-23655)Gta>Ata		spectrin repeat containing, nuclear envelope 1							72.0	66.0	68.0					6																	152485435		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152485435C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23653G>A	6.37:g.152485435C>T	ENSP00000356224:p.Val7885Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I	p.V7885I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	131	24254	-		Ovarian(120;0.0955)	7885					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23653G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.180579	0.94846	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56275	0.57;0.68;1.45;0.58;0.47;0.58;0.68;2.6;1.62;0.68	5.44	5.44	0.79542	.	0.000000	0.49305	D	0.000154	T	0.62233	0.2411	M	0.63428	1.95	0.80722	D	1	P;P;D;D;B	0.55605	0.673;0.673;0.965;0.972;0.215	B;P;P;P;B	0.62298	0.39;0.6;0.839;0.9;0.188	T	0.58423	-0.7639	10	0.37606	T	0.19	.	19.2685	0.93998	0.0:1.0:0.0:0.0	.	7885;7885;7814;7814;87	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7885;40;531;7814;7885;7814;7497;2409;47;42;807;40	ENSP00000356224:V7885I;ENSP00000441052:V40I;ENSP00000356226:V531I;ENSP00000396024:V7814I;ENSP00000265368:V7885I;ENSP00000390975:V7814I;ENSP00000341887:V7497I;ENSP00000349276:V2409I;ENSP00000356220:V807I;ENSP00000346701:V40I	ENSP00000265368:V7885I	V	-	1	0	SYNE1	152527128	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	4.041000	0.57339	2.555000	0.86185	0.585000	0.79938	GTA		0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		89	348	0	0	0	1	0	89	348				
LRRC39	127495	broad.mit.edu	37	1	100624921	100624921	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100624921A>C	ENST00000370137.1	-	5	468	c.270T>G	c.(268-270)ctT>ctG	p.L90L	LRRC39_ENST00000342895.3_Silent_p.L90L|LRRC39_ENST00000370138.1_Silent_p.L90L	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	90										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGTTCTATGAAGTTGCCATT	0.353																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(268-270)ctT>ctG		leucine rich repeat containing 39							104.0	104.0	104.0					1																	100624921		2203	4300	6503	SO:0001819	synonymous_variant	127495							g.chr1:100624921A>C	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.270T>G	1.37:g.100624921A>C						LRRC39_ENST00000342895.3_Silent_p.L90L|LRRC39_ENST00000370137.1_Silent_p.L90L	p.L90L	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	5	468	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	90					B3KUD2|D3DT56|Q5VVK7	Silent	SNP	ENST00000370137.1	37	c.270T>G	CCDS766.1																																																																																				0.353	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		77	323	0	0	0	1	0	77	323				
GJA8	2703	broad.mit.edu	37	1	147381177	147381177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381177C>T	ENST00000369235.1	+	1	1095	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	GJA8_ENST00000240986.4_Silent_p.A365A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	365					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.A365A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGAAGGTGGCCGTGCCAGAGG	0.627																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			1	Substitution - coding silent(1)	p.A365A(1)	pancreas(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1093-1095)gcC>gcT		gap junction protein, alpha 8, 50kDa							46.0	47.0	46.0					1																	147381177		2200	4294	6494	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381177C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1095C>T	1.37:g.147381177C>T						GJA8_ENST00000369235.1_Silent_p.A365A	p.A365A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	1148	+	all_hematologic(923;0.0276)		365					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.1095C>T	CCDS30834.1																																																																																				0.627	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		13	93	0	0	0	1	0	13	93				
PARP16	54956	broad.mit.edu	37	15	65555562	65555562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65555562C>T	ENST00000444347.2	-	2	687	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	PARP16_ENST00000261888.6_Missense_Mutation_p.G206S			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	206	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AGGATGGGGCCGAGGAGGCTG	0.587																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(616-618)Ggc>Agc		poly (ADP-ribose) polymerase family, member 16							82.0	64.0	70.0					15																	65555562		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65555562C>T	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.271G>A	15.37:g.65555562C>T	ENSP00000396118:p.Gly91Ser					PARP16_ENST00000444347.2_Missense_Mutation_p.G91S	p.G206S	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			4	1061	-			206			PARP catalytic.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.616G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.460407	0.96240	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.61510	0.74;0.1	5.6	5.6	0.85130	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.53671	1.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.987;0.989;0.993	T	0.68032	-0.5516	10	0.33141	T	0.24	-29.5579	18.6133	0.91294	0.0:1.0:0.0:0.0	.	206;91;206	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	S	206;91	ENSP00000261888:G206S;ENSP00000396118:G91S	ENSP00000261888:G206S	G	-	1	0	PARP16	63342615	1.000000	0.71417	0.957000	0.39632	0.962000	0.63368	7.711000	0.84669	2.636000	0.89361	0.655000	0.94253	GGC		0.587	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		31	157	0	0	0	1	0	31	157				
LSP1	4046	broad.mit.edu	37	11	1901374	1901374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1901374G>T	ENST00000311604.3	+	2	286	c.111G>T	c.(109-111)caG>caT	p.Q37H	LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.Q165H	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	37					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGCAATGCCAGCATGAGAGAG	0.657																																						ENST00000381775.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(493-495)caG>caT		lymphocyte-specific protein 1							79.0	63.0	68.0					11																	1901374		2202	4299	6501	SO:0001583	missense	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1901374G>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.111G>T	11.37:g.1901374G>T	ENSP00000308383:p.Gln37His					LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.Q37H|LSP1_ENST00000406638.2_5'UTR	p.Q165H	NM_001242932.1	NP_001229861.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	3	603	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	37					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	c.495G>T	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.400235	0.42613	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000457279;ENST00000429923;ENST00000418975	T;T;T;T;T	0.49139	1.86;1.79;1.86;1.4;0.79	3.24	-0.0138	0.13982	.	0.367615	0.15648	U	0.251555	T	0.30417	0.0764	L	0.36672	1.1	0.09310	N	0.999992	B;B	0.28512	0.214;0.07	B;B	0.22753	0.041;0.025	T	0.14392	-1.0474	10	0.51188	T	0.08	-12.2831	4.5777	0.12241	0.237:0.183:0.58:0.0	.	165;37	E9PFP3;P33241	.;LSP1_HUMAN	H	37;165;28;20;55	ENSP00000308383:Q37H;ENSP00000371194:Q165H;ENSP00000400346:Q28H;ENSP00000400999:Q20H;ENSP00000403460:Q55H	ENSP00000308383:Q37H	Q	+	3	2	LSP1	1857950	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.097000	0.12307	0.491000	0.48974	CAG		0.657	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		43	187	1	0	2.26627e-22	1	2.56399e-22	43	187				
KCNK9	51305	broad.mit.edu	37	8	140714976	140714976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714976G>A	ENST00000520439.1	-	1	323	c.260C>T	c.(259-261)gCg>gTg	p.A87V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	87					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GACCGTGATCGCAAAGTAGAA	0.701																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(259-261)gCg>gTg		potassium channel, subfamily K, member 9							33.0	34.0	34.0					8																	140714976		2202	4299	6501	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140714976G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.260C>T	8.37:g.140714976G>A	ENSP00000430676:p.Ala87Val					KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	p.A87V			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		1	323	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	87					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.260C>T	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164005	0.94727	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.28454	1.61;1.61;1.61	3.87	3.87	0.44632	Ion transport 2 (1);	0.000000	0.64402	D	0.000001	T	0.48259	0.1490	M	0.73430	2.235	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	T	0.54200	-0.8329	10	0.46703	T	0.11	.	15.1508	0.72696	0.0:0.0:1.0:0.0	.	87	Q9NPC2	KCNK9_HUMAN	V	87	ENSP00000429847:A87V;ENSP00000302166:A87V;ENSP00000430676:A87V	ENSP00000302166:A87V	A	-	2	0	KCNK9	140784158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.704000	0.91351	1.839000	0.53478	0.555000	0.69702	GCG		0.701	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		6	122	0	0	0	1	0	6	122				
POMC	5443	broad.mit.edu	37	2	25384073	25384073	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25384073G>T	ENST00000405623.1	-	3	1136	c.681C>A	c.(679-681)cgC>cgA	p.R227R	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_Silent_p.R227R|POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000380794.1_Silent_p.R227R			P01189	COLI_HUMAN	proopiomelanocortin	227					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GGCTGCCCCAGCGGAAGTGCT	0.652																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(679-681)cgC>cgA		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						35.0	37.0	36.0					2																	25384073		2203	4300	6503	SO:0001819	synonymous_variant	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384073G>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.681C>A	2.37:g.25384073G>T						POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000380794.1_Silent_p.R227R|POMC_ENST00000264708.3_Silent_p.R227R	p.R227R			P01189	COLI_HUMAN			3	1136	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		227					P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	37	c.681C>A	CCDS1717.1																																																																																				0.652	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		36	226	1	0	8.73648e-17	1	9.61379e-17	36	226				
RPUSD1	113000	broad.mit.edu	37	16	836310	836310	+	Silent	SNP	G	G	A	rs367977361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836310G>A	ENST00000561734.1	-	5	822	c.579C>T	c.(577-579)taC>taT	p.Y193Y	CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.Y193Y|RPUSD1_ENST00000567114.1_Silent_p.Y64Y|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	193					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				AGACTTCTCCGTAGGTCAGGT	0.677																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(577-579)taC>taT		RNA pseudouridylate synthase domain containing 1		G		0,4400		0,0,2200	53.0	61.0	58.0		579	-5.4	0.3	16		58	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	RPUSD1	NM_058192.2		0,2,6497	AA,AG,GG		0.0233,0.0,0.0154		193/313	836310	2,12996	2200	4299	6499	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836310G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.579C>T	16.37:g.836310G>A						RPUSD1_ENST00000567114.1_Silent_p.Y64Y|RPUSD1_ENST00000007264.2_Silent_p.Y193Y|RPUSD1_ENST00000565809.1_3'UTR	p.Y193Y			Q9UJJ7	RUSD1_HUMAN			5	822	-		Hepatocellular(780;0.00335)	193					D3DU66	Silent	SNP	ENST00000561734.1	37	c.579C>T	CCDS10426.1																																																																																				0.677	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		14	580	0	0	0	1	0	14	580				
CHST5	23563	broad.mit.edu	37	16	75563056	75563056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563056C>T	ENST00000336257.3	-	3	2621	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S415S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	409					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CTCAGTCAGGCGATGCCCAGC	0.657																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(1225-1227)tcG>tcA		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							31.0	25.0	27.0					16																	75563056		2197	4298	6495	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563056C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1227G>A	16.37:g.75563056C>T						RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S415S	p.S409S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2621	-			409					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.1227G>A	CCDS10919.1																																																																																				0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		10	177	0	0	0	1	0	10	177				
FAM173B	134145	broad.mit.edu	37	5	10236629	10236629	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10236629C>T	ENST00000511437.1	-	3	417	c.405G>A	c.(403-405)gtG>gtA	p.V135V	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000510052.1_Intron	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	135						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAGATCCATGCACACCTTCTC	0.413																																						ENST00000511437.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(403-405)gtG>gtA		family with sequence similarity 173, member B							84.0	82.0	83.0					5																	10236629		1861	4112	5973	SO:0001819	synonymous_variant	134145					integral to membrane		g.chr5:10236629C>T		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.405G>A	5.37:g.10236629C>T						FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000510052.1_Intron|FAM173B_ENST00000280330.8_5'UTR	p.V135V	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN			3	417	-			135					B4DT41|B4DXK2|E9PBZ4	Silent	SNP	ENST00000511437.1	37	c.405G>A	CCDS43301.1																																																																																				0.413	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		57	326	0	0	0	1	0	57	326				
TENM1	10178	broad.mit.edu	37	X	123514421	123514421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123514421G>T	ENST00000371130.3	-	31	8206	c.8143C>A	c.(8143-8145)Cac>Aac	p.H2715N	TENM1_ENST00000422452.2_Missense_Mutation_p.H2722N|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2715					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCATAAAGTGAATATTATTG	0.398																																						ENST00000422452.2																			0											c.(8164-8166)Cac>Aac		teneurin transmembrane protein 1							98.0	94.0	95.0					X																	123514421		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514421G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8143C>A	X.37:g.123514421G>T	ENSP00000360171:p.His2715Asn					TENM1_ENST00000371130.3_Missense_Mutation_p.H2715N|STAG2_ENST00000469481.1_Intron	p.H2722N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8227	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8164C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703967	0.68501	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.94	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91408	0.7289	M	0.61703	1.905	0.80722	D	1	D;D;D	0.63880	0.993;0.985;0.965	D;P;P	0.70227	0.968;0.787;0.72	D	0.91575	0.5274	10	0.59425	D	0.04	.	18.9144	0.92499	0.0:0.0:1.0:0.0	.	2721;2722;2715	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	2715;2722	ENSP00000360171:H2715N;ENSP00000403954:H2722N	ENSP00000360171:H2715N	H	-	1	0	ODZ1	123342102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.414000	0.81942	0.538000	0.68166	CAC		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		83	335	1	0	4.81439e-37	1	5.77535e-37	83	335				
ADCY3	109	broad.mit.edu	37	2	25141705	25141705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141705C>T	ENST00000260600.5	-	1	1003	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	51					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGCATGAAGCGAGGCAGGCA	0.637																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(151-153)cGc>cAc		adenylate cyclase 3							41.0	45.0	44.0					2																	25141705		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141705C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.152G>A	2.37:g.25141705C>T	ENSP00000260600:p.Arg51His						p.R51H	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			1	1003	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		51					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.152G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403834	0.62288	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80738	-1.41;-1.02;0.65	4.27	3.37	0.38596	.	0.198405	0.45126	D	0.000381	T	0.72011	0.3408	L	0.51422	1.61	0.80722	D	1	P;P	0.40332	0.713;0.713	B;B	0.35114	0.182;0.196	T	0.74312	-0.3706	10	0.44086	T	0.13	.	11.2568	0.49058	0.0:0.907:0.0:0.0929	.	51;51	B7ZLX9;O60266	.;ADCY3_HUMAN	H	51;26;51;51	ENSP00000260600:R51H;ENSP00000389799:R51H;ENSP00000406153:R51H	ENSP00000260600:R51H	R	-	2	0	ADCY3	24995209	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.815000	0.48018	2.211000	0.71520	0.563000	0.77884	CGC		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			22	318	0	0	0	1	0	22	318				
LYPD4	147719	broad.mit.edu	37	19	42342146	42342146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342146G>T	ENST00000330743.3	-	4	1612	c.401C>A	c.(400-402)tCt>tAt	p.S134Y	LYPD4_ENST00000601246.1_Missense_Mutation_p.S99Y|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Missense_Mutation_p.S99Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	134						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGATGTGATAGACTTAGGAGT	0.522																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(400-402)tCt>tAt		LY6/PLAUR domain containing 4							133.0	113.0	120.0					19																	42342146		2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42342146G>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.401C>A	19.37:g.42342146G>T	ENSP00000328737:p.Ser134Tyr					LYPD4_ENST00000343055.4_Missense_Mutation_p.S99Y|LYPD4_ENST00000601246.1_Missense_Mutation_p.S99Y	p.S134Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1612	-			134					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.401C>A	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	g	9.947	1.219168	0.22373	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.13420	3.23;2.59	4.13	3.1	0.35709	.	1.222090	0.05821	N	0.615812	T	0.17450	0.0419	L	0.51422	1.61	0.09310	N	1	P;P	0.39782	0.688;0.561	B;B	0.40659	0.336;0.181	T	0.26189	-1.0110	10	0.62326	D	0.03	-5.1335	7.9833	0.30196	0.1108:0.0:0.8892:0.0	.	99;134	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	Y	134;99	ENSP00000328737:S134Y;ENSP00000339568:S99Y	ENSP00000328737:S134Y	S	-	2	0	LYPD4	47033986	0.005000	0.15991	0.002000	0.10522	0.017000	0.09413	1.495000	0.35627	1.349000	0.45751	-0.389000	0.06534	TCT		0.522	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		14	346	1	0	1.49906e-05	1	1.53515e-05	14	346				
RFC1	5981	broad.mit.edu	37	4	39310294	39310294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39310294C>T	ENST00000381897.1	-	13	1980	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	616					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGCCAGTTTCGGAGCCAGCG	0.438																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1846-1848)cGa>cAa		replication factor C (activator 1) 1, 145kDa							148.0	155.0	153.0					4																	39310294		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39310294C>T	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1847G>A	4.37:g.39310294C>T	ENSP00000371321:p.Arg616Gln					RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			13	1980	-			616					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1847G>A	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071495	0.36566	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.17370	2.28;2.28	5.91	3.03	0.35002	.	0.309163	0.32416	N	0.006135	T	0.06735	0.0172	N	0.05199	-0.095	0.29184	N	0.876329	B;B	0.16802	0.005;0.019	B;B	0.14023	0.004;0.01	T	0.32640	-0.9899	10	0.15952	T	0.53	-2.8818	6.7029	0.23234	0.0:0.5824:0.0:0.4176	.	616;616	P35251;P35251-2	RFC1_HUMAN;.	Q	616	ENSP00000371321:R616Q;ENSP00000261424:R616Q	ENSP00000261424:R616Q	R	-	2	0	RFC1	38986689	0.208000	0.23494	0.998000	0.56505	0.976000	0.68499	0.502000	0.22594	0.706000	0.31912	0.655000	0.94253	CGA		0.438	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		164	755	0	0	0	1	0	164	755				
DST	667	broad.mit.edu	37	6	56472399	56472399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472399G>A	ENST00000361203.3	-	36	6401	c.6394C>T	c.(6394-6396)Ctc>Ttc	p.L2132F	DST_ENST00000446842.2_Missense_Mutation_p.L1806F|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L2132F|DST_ENST00000370769.4_Missense_Mutation_p.L2132F|DST_ENST00000370754.5_Missense_Mutation_p.L2310F			Q03001	DYST_HUMAN	dystonin	2132					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGATATGAGACTGGGAACA	0.363																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6928-6930)Ctc>Ttc		dystonin							76.0	68.0	70.0					6																	56472399		1880	4124	6004	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56472399G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6394C>T	6.37:g.56472399G>A	ENSP00000354508:p.Leu2132Phe					DST_ENST00000370769.4_Missense_Mutation_p.L2132F|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L2132F|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.L2132F|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.L1806F	p.L2310F			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	6927	-	Lung NSC(77;0.103)		2132					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6928C>T		.	.	.	.	.	.	.	.	.	.	G	10.03	1.238030	0.22711	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80824	0.06;0.06;1.02;-1.42;0.05;-0.2	4.52	-0.0795	0.13710	.	0.798511	0.10832	N	0.629213	T	0.45115	0.1326	.	.	.	0.23336	N	0.997883	B	0.22604	0.072	B	0.12156	0.007	T	0.05599	-1.0875	8	0.35671	T	0.21	.	3.7409	0.08530	0.2912:0.4129:0.296:0.0	.	1806	Q03001-9	.	F	2310;2132;1806;2132;2132;1806	ENSP00000359790:L2310F;ENSP00000359805:L2132F;ENSP00000393645:L1806F;ENSP00000307959:L2132F;ENSP00000354508:L2132F;ENSP00000404924:L1806F	ENSP00000307959:L2132F	L	-	1	0	DST	56580358	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.149000	0.10204	0.158000	0.19367	0.563000	0.77884	CTC		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		16	85	0	0	0	1	0	16	85				
OR11L1	391189	broad.mit.edu	37	1	248004962	248004962	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004962G>T	ENST00000355784.2	-	1	292	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAGGAGAAGGGGCACAGTGG	0.592																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(235-237)ccC>ccA		olfactory receptor, family 11, subfamily L, member 1							74.0	63.0	67.0					1																	248004962		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004962G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.237C>A	1.37:g.248004962G>T							p.P79P	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	292	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		79						Silent	SNP	ENST00000355784.2	37	c.237C>A	CCDS31098.1																																																																																				0.592	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		47	128	1	0	2.68985e-26	1	3.09749e-26	47	128				
SLC35A5	55032	broad.mit.edu	37	3	112299496	112299496	+	Missense_Mutation	SNP	C	C	T	rs144280370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112299496C>T	ENST00000492406.1	+	6	815	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	178					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)	p.R178S(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTGGCAGGACGTGGATTTCA	0.463																																						ENST00000492406.1																			1	Substitution - Missense(1)	p.R178S(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						c.(532-534)Cgt>Tgt		solute carrier family 35, member A5		C	CYS/ARG	0,4406		0,0,2203	116.0	113.0	114.0		532	5.8	1.0	3	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35A5	NM_017945.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	178/425	112299496	1,13005	2203	4300	6503	SO:0001583	missense	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112299496C>T	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.532C>T	3.37:g.112299496C>T	ENSP00000417654:p.Arg178Cys					SLC35A5_ENST00000460713.1_3'UTR	p.R178C	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN			6	815	+			178					D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	c.532C>T	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289704	0.59976	0.0	1.16E-4	ENSG00000138459	ENST00000492406	T	0.47177	0.85	5.76	5.76	0.90799	.	0.314260	0.39475	N	0.001341	T	0.33089	0.0851	N	0.08118	0	0.38054	D	0.935873	P	0.47762	0.9	B	0.43575	0.424	T	0.22034	-1.0228	9	.	.	.	-12.1866	18.1556	0.89689	0.0:1.0:0.0:0.0	.	178	Q9BS91	S35A5_HUMAN	C	178	ENSP00000417654:R178C	.	R	+	1	0	SLC35A5	113782186	0.997000	0.39634	1.000000	0.80357	0.539000	0.34962	3.555000	0.53727	2.724000	0.93272	0.585000	0.79938	CGT		0.463	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		68	351	0	0	0	1	0	68	351				
L3HYPDH	112849	broad.mit.edu	37	14	59950867	59950867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59950867C>A	ENST00000247194.4	-	1	281	c.168G>T	c.(166-168)caG>caT	p.Q56H	JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000556985.1_5'Flank|JKAMP_ENST00000554271.1_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	56					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	GGTCAAGGTGCTGGCGCATGT	0.701											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000247194.4																			0											c.(166-168)caG>caT		L-3-hydroxyproline dehydratase (trans-)							16.0	13.0	14.0					14																	59950867		2125	4206	6331	SO:0001583	missense	112849							g.chr14:59950867C>A	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.168G>T	14.37:g.59950867C>A	ENSP00000247194:p.Gln56His		OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1042	RP11-701B16.2_ENST00000554253.1_RNA	p.Q56H	NM_144581.1	NP_653182.1					1	281	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.168G>T	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141889	0.77775	.	.	ENSG00000126790	ENST00000247194	T	0.17691	2.26	4.53	2.67	0.31697	.	0.111307	0.64402	D	0.000012	T	0.20129	0.0484	L	0.41492	1.28	0.80722	D	1	P;B	0.44877	0.845;0.393	P;P	0.51229	0.663;0.447	T	0.01363	-1.1374	10	0.72032	D	0.01	.	6.853	0.24024	0.0:0.6286:0.1883:0.1831	.	56;56	B4DGY8;Q96EM0	.;PRCM_HUMAN	H	56	ENSP00000247194:Q56H	ENSP00000247194:Q56H	Q	-	3	2	C14orf149	59020620	0.997000	0.39634	0.999000	0.59377	0.950000	0.60333	0.764000	0.26532	0.615000	0.30124	0.455000	0.32223	CAG		0.701	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		21	73	1	0	0.00887093	1	0.00892338	21	73				
CTBP2	1488	broad.mit.edu	37	10	126691615	126691615	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126691615T>C	ENST00000337195.5	-	5	671	c.272A>G	c.(271-273)gAc>gGc	p.D91G	CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G|CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000309035.6_Missense_Mutation_p.D631G|CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	91					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTCTCCAGGTCCTCCCTGGT	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1891-1893)gAc>gGc		C-terminal binding protein 2							88.0	69.0	75.0					10																	126691615		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126691615T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.272A>G	10.37:g.126691615T>C	ENSP00000338615:p.Asp91Gly					CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G|CTBP2_ENST00000337195.5_Missense_Mutation_p.D91G|CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G	p.D631G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	3	2022	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	91					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1892A>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001605	0.74818	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.94	4.94	0.65067	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.996;0.997	T	0.80723	-0.1255	10	0.72032	D	0.01	.	14.9022	0.70687	0.0:0.0:0.0:1.0	.	91;631;159	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	G	91;631;159;91;91;91	ENSP00000338615:D91G;ENSP00000311825:D631G;ENSP00000357816:D159G;ENSP00000434630:D91G;ENSP00000436285:D91G;ENSP00000410474:D91G	ENSP00000311825:D631G	D	-	2	0	CTBP2	126681605	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.033000	0.88852	1.998000	0.58463	0.459000	0.35465	GAC		0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		13	313	0	0	0	1	0	13	313				
MUC5B	727897	broad.mit.edu	37	11	1255461	1255461	+	Missense_Mutation	SNP	G	G	A	rs554418515	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255461G>A	ENST00000529681.1	+	20	2462	c.2404G>A	c.(2404-2406)Gac>Aac	p.D802N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D805N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	802					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGTACCTGGACTGCAGCAA	0.687																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2413-2415)Gac>Aac		mucin 5B, oligomeric mucus/gel-forming							16.0	18.0	17.0					11																	1255461		1972	4134	6106	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1255461G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2404G>A	11.37:g.1255461G>A	ENSP00000436812:p.Asp802Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.D802N	p.D805N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	20	2471	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	802			TIL 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.2413G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282631	0.23392	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16324	2.35;2.35	4.21	3.28	0.37604	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	T	0.18882	0.0453	L	0.37507	1.11	0.31973	N	0.606944	B;P;P	0.42357	0.077;0.777;0.777	B;B;B	0.42738	0.136;0.396;0.396	T	0.09079	-1.0691	9	0.87932	D	0	.	15.1372	0.72576	0.0779:0.0:0.9221:0.0	.	802;1461;805	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	802;805;803;838	ENSP00000436812:D802N;ENSP00000415793:D805N	ENSP00000343037:D803N	D	+	1	0	MUC5B	1212037	0.995000	0.38212	0.873000	0.34254	0.350000	0.29205	2.155000	0.42301	0.431000	0.26258	-1.634000	0.00779	GAC		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		13	53	0	0	0	1	0	13	53				
ABCG2	9429	broad.mit.edu	37	4	89015812	89015812	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89015812C>T	ENST00000237612.3	-	15	2283		c.e15-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)						cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCTGCAAAGCCTATAACACAA	0.373																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.e15-1		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						95.0	86.0	89.0					4																	89015812		2203	4300	6503	SO:0001630	splice_region_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89015812C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1738-1G>A	4.37:g.89015812C>T						ABCG2_ENST00000515655.1_Splice_Site		NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	15	2283	-		Hepatocellular(203;0.114)						A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Splice_Site	SNP	ENST00000237612.3	37		CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011891	0.75046	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5078	0.87750	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCG2	89234836	1.000000	0.71417	0.997000	0.53966	0.832000	0.47134	3.577000	0.53885	2.724000	0.93272	0.563000	0.77884	.		0.373	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	Intron	10	276	0	0	0	1	0	10	276				
ZFP91	80829	broad.mit.edu	37	11	58381795	58381795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58381795C>T	ENST00000316059.6	+	9	1252	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	361	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCAACTTCTGCGACATGCCAA	0.388																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1081-1083)Cga>Tga		ZFP91 zinc finger protein							92.0	83.0	86.0					11																	58381795		2201	4294	6495	SO:0001587	stop_gained	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58381795C>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1081C>T	11.37:g.58381795C>T	ENSP00000339030:p.Arg361*					ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			9	1252	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	361			Interaction with MAP3K14/NIK.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Nonsense_Mutation	SNP	ENST00000316059.6	37	c.1081C>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	39	7.811760	0.98504	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0583	19.2039	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	361	.	ENSP00000374569:R361X	R	+	1	2	ZFP91	58138371	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	CGA		0.388	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		31	203	0	0	0	1	0	31	203				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977992	53977992	+	Missense_Mutation	SNP	C	C	T	rs371519069		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:53977992C>T	ENST00000263634.3	-	3	417	c.283G>A	c.(283-285)Gta>Ata	p.V95I	GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V133I|ASB3_ENST00000406625.2_Missense_Mutation_p.V130I|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V22I|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V22I|ASB3_ENST00000498475.2_Intron	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		AGAATCTGTACGATTTTCCAA	0.393																																						ENST00000263634.3																			0											c.(283-285)Gta>Ata									107.0	108.0	108.0					2																	53977992		2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction			g.chr2:53977992C>T		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.283G>A	2.37:g.53977992C>T	ENSP00000263634:p.Val95Ile					GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V22I|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V133I|ASB3_ENST00000406625.2_Missense_Mutation_p.V130I|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V22I	p.V95I	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			3	417	-			130						Missense_Mutation	SNP	ENST00000263634.3	37	c.283G>A	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.868004|1.868004	0.32977|0.32977	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	5.54|5.54	0.0467|0.0467	0.14278|0.14278	.|Ankyrin repeat-containing domain (4);	.|0.456485	.|0.21812	.|N	.|0.068745	T|T	0.65491|0.65491	0.2696|0.2696	M|M	0.72479|0.72479	2.2|2.2	.|0.28312	.|N	.|0.922643	.|B;B;B	.|0.28933	.|0.008;0.228;0.142	.|B;B;B	.|0.29176	.|0.008;0.099;0.035	T|T	0.66040|0.66040	-0.6022|-0.6022	4|9	.|0.31617	.|T	.|0.26	-8.1936|-8.1936	11.6191|11.6191	0.51106|0.51106	0.0:0.6858:0.0:0.3142|0.0:0.6858:0.0:0.3142	.|.	.|95;130;95	.|B4DZX6;Q2TAI4;Q9Y575	.|.;.;ASB3_HUMAN	H|I	87|95;130;22;22;133;95	.|ENSP00000263634:V95I;ENSP00000385085:V130I;ENSP00000384728:V22I;ENSP00000378206:V22I;ENSP00000313756:V133I	.|ENSP00000263634:V95I	R|V	-|-	2|1	0|0	ASB3|ASB3	53831496|53831496	0.000000|0.000000	0.05858|0.05858	0.048000|0.048000	0.18961|0.18961	0.933000|0.933000	0.57130|0.57130	-0.820000|-0.820000	0.04457|0.04457	0.029000|0.029000	0.15352|0.15352	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.393	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			62	342	0	0	0	1	0	62	342				
GRWD1	83743	broad.mit.edu	37	19	48953963	48953963	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953963C>A	ENST00000253237.5	+	5	956	c.723C>A	c.(721-723)ctC>ctA	p.L241L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	241						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACATCCACCTCTGGACACCTA	0.637																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(721-723)ctC>ctA		glutamate-rich WD repeat containing 1							48.0	44.0	45.0					19																	48953963		2203	4300	6503	SO:0001819	synonymous_variant	83743					nucleolus		g.chr19:48953963C>A	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.723C>A	19.37:g.48953963C>A							p.L241L	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	5	956	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	241					Q8TF59	Silent	SNP	ENST00000253237.5	37	c.723C>A	CCDS12720.1																																																																																				0.637	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		61	258	1	0	1.80625e-27	1	2.09175e-27	61	258				
TTC31	64427	broad.mit.edu	37	2	74719130	74719130	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74719130G>T	ENST00000233623.5	+	9	883		c.e9-1		TTC31_ENST00000410003.1_Splice_Site|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CCTATCCCCAGGCATCTCCGG	0.542																																						ENST00000410003.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.e9-1		tetratricopeptide repeat domain 31							60.0	63.0	62.0					2																	74719130		1984	4166	6150	SO:0001630	splice_region_variant	64427						binding	g.chr2:74719130G>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.877-1G>T	2.37:g.74719130G>T						TTC31_ENST00000233623.5_Splice_Site|TTC31_ENST00000442235.2_Intron				Q49AM3	TTC31_HUMAN			9	885	+								Q4KN40|Q53FD4|Q9H9F7	Splice_Site	SNP	ENST00000233623.5	37		CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920848	0.17982	.	.	ENSG00000115282	ENST00000410003;ENST00000233623;ENST00000414247	.	.	.	4.12	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4006	0.26962	0.1197:0.0:0.8803:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC31	74572638	0.978000	0.34361	0.250000	0.24296	0.357000	0.29423	2.111000	0.41883	0.954000	0.37851	0.561000	0.74099	.		0.542	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492	Intron	58	270	1	0	1.69475e-38	1	2.04315e-38	58	270				
OR4M1	441670	broad.mit.edu	37	14	20249045	20249045	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20249045C>A	ENST00000315957.4	+	1	645	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCGGATTGCCTGTGCCAACA	0.458																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(562-564)gcC>gcA		olfactory receptor, family 4, subfamily M, member 1							300.0	265.0	277.0					14																	20249045		2203	4297	6500	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249045C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.564C>A	14.37:g.20249045C>A							p.A188A	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	645	+	all_cancers(95;0.00108)		188					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.564C>A	CCDS32021.1																																																																																				0.458	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			186	1152	1	0	4.61678e-68	1	5.85161e-68	186	1152				
ABCA8	10351	broad.mit.edu	37	17	66925263	66925263	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925263C>A	ENST00000269080.2	-	8	1189	c.1052G>T	c.(1051-1053)aGa>aTa	p.R351I	ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I|ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	351					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGAAGGTGTCTGTACAGTGA	0.473																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1051-1053)aGa>aTa		ATP-binding cassette, sub-family A (ABC1), member 8							99.0	79.0	86.0					17																	66925263		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66925263C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1052G>T	17.37:g.66925263C>A	ENSP00000269080:p.Arg351Ile					ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I|ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I	p.R351I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			8	1189	-	Breast(10;4.56e-13)		351					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1052G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070010	0.55539	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86865	-2.18;-2.18	4.67	3.7	0.42460	.	0.000000	0.56097	D	0.000028	D	0.89969	0.6869	M	0.81802	2.56	0.48341	D	0.999631	P;D;B;P;D	0.53151	0.948;0.958;0.229;0.896;0.958	P;P;B;P;P	0.58780	0.745;0.845;0.145;0.578;0.845	D	0.88299	0.2948	10	0.42905	T	0.14	.	5.3451	0.16004	0.0:0.753:0.0:0.247	.	290;351;351;351;351	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	I	351;351;290	ENSP00000269080:R351I;ENSP00000402814:R351I	ENSP00000269080:R351I	R	-	2	0	ABCA8	64436858	0.155000	0.22806	0.973000	0.42090	0.203000	0.24098	1.211000	0.32382	2.592000	0.87571	0.655000	0.94253	AGA		0.473	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		27	203	1	0	1.17739e-12	1	1.26592e-12	27	203				
DYNC1H1	1778	broad.mit.edu	37	14	102446777	102446777	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102446777C>T	ENST00000360184.4	+	5	1015	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	284	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGGAACGTGCGTTATACCGC	0.463																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(850-852)gCg>gTg		dynein, cytoplasmic 1, heavy chain 1							103.0	102.0	102.0					14																	102446777		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102446777C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.851C>T	14.37:g.102446777C>T	ENSP00000348965:p.Ala284Val						p.A284V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			5	1015	+			284			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.851C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828299	0.90955	.	.	ENSG00000197102	ENST00000360184	T	0.57436	0.4	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82104	-0.0622	10	0.41790	T	0.15	.	19.1779	0.93611	0.0:1.0:0.0:0.0	.	284	Q14204	DYHC1_HUMAN	V	284	ENSP00000348965:A284V	ENSP00000348965:A284V	A	+	2	0	DYNC1H1	101516530	1.000000	0.71417	0.889000	0.34880	0.305000	0.27757	7.383000	0.79741	2.601000	0.87937	0.591000	0.81541	GCG		0.463	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		41	313	0	0	0	1	0	41	313				
FAT1	2195	broad.mit.edu	37	4	187540331	187540331	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540331C>A	ENST00000441802.2	-	10	7618	c.7409G>T	c.(7408-7410)gGa>gTa	p.G2470V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2470	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTAAAAACTCCATCAGACAC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7408-7410)gGa>gTa		FAT atypical cadherin 1							201.0	199.0	199.0					4																	187540331		1956	4144	6100	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540331C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7409G>T	4.37:g.187540331C>A	ENSP00000406229:p.Gly2470Val	HNSCC(5;0.00058)					p.G2470V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7618	-			2470			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7409G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532735	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04502	3.61	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58482	-0.7629	10	0.72032	D	0.01	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	2470	Q14517	FAT1_HUMAN	V	2470;2472	ENSP00000406229:G2470V	ENSP00000260147:G2472V	G	-	2	0	FAT1	187777325	1.000000	0.71417	0.984000	0.44739	0.491000	0.33493	7.609000	0.82925	2.810000	0.96702	0.650000	0.86243	GGA		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		70	901	1	0	1.46168e-27	1	1.69373e-27	70	901				
CCDC65	85478	broad.mit.edu	37	12	49314776	49314776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49314776C>T	ENST00000320516.4	+	7	1278	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	CCDC65_ENST00000266984.5_Silent_p.L364L|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	364										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAAAGTGCTGCCTTTTTA	0.403																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(1090-1092)Ctg>Ttg		coiled-coil domain containing 65							59.0	64.0	62.0					12																	49314776		2203	4300	6503	SO:0001819	synonymous_variant	85478							g.chr12:49314776C>T		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1090C>T	12.37:g.49314776C>T						ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L364L	p.L364L			Q8IXS2	CCD65_HUMAN			7	1317	+			364					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	37	c.1090C>T	CCDS8772.1																																																																																				0.403	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		44	276	0	0	0	1	0	44	276				
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACACTCACCGCAGTTGGCCT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e66+1		low density lipoprotein receptor-related protein 1B							140.0	127.0	131.0					2																	141200074		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141200074G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10414+1C>T	2.37:g.141200074G>A		TSP Lung(27;0.18)					p.C3471_splice	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	66	11384	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3471			LDL-receptor class A 24.		Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.10414_splice	CCDS2182.1																																																																																				0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Silent	115	283	0	0	0	1	0	115	283				
MRPL15	29088	broad.mit.edu	37	8	55055322	55055322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055322G>T	ENST00000260102.4	+	4	603	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	177					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TGTTACTACAGCCTTCTATGA	0.383																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(529-531)Gcc>Tcc		mitochondrial ribosomal protein L15							141.0	129.0	133.0					8																	55055322		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55055322G>T	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.529G>T	8.37:g.55055322G>T	ENSP00000260102:p.Ala177Ser						p.A177S	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		4	603	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	177					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.529G>T	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353741	0.41700	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	4.39	0.52855	Ribosomal protein L18e/L15P (1);	0.186728	0.56097	D	0.000030	T	0.45677	0.1354	N	0.20807	0.61	0.38242	D	0.941351	B	0.27450	0.179	B	0.34931	0.192	T	0.45600	-0.9250	9	0.28530	T	0.3	-27.9279	14.5839	0.68310	0.0:0.0:0.7817:0.2183	.	177	Q9P015	RM15_HUMAN	S	177	.	ENSP00000260102:A177S	A	+	1	0	MRPL15	55217875	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.928000	0.48908	2.652000	0.90054	0.655000	0.94253	GCC		0.383	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		75	337	1	0	1.62783e-20	1	1.82478e-20	75	337				
CPNE4	131034	broad.mit.edu	37	3	131274360	131274360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131274360C>A	ENST00000512055.1	-	16	3223	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M|CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M			Q96A23	CPNE4_HUMAN	copine IV	366	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGAGGTATCCTGGCGCCAAA	0.418																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1096-1098)aGg>aTg		copine IV							119.0	103.0	109.0					3																	131274360		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131274360C>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1097G>T	3.37:g.131274360C>A	ENSP00000421705:p.Arg366Met					CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M|CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M	p.R366M			Q96A23	CPNE4_HUMAN			16	3223	-			366			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1097G>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916781	0.73098	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.51	5.51	0.81932	von Willebrand factor, type A (1);Copine (1);	0.198870	0.53938	D	0.000053	T	0.55289	0.1911	M	0.90019	3.08	0.50313	D	0.999867	P;D	0.58268	0.745;0.982	P;P	0.56788	0.747;0.806	T	0.65582	-0.6133	10	0.87932	D	0	-26.6481	18.1887	0.89800	0.0:1.0:0.0:0.0	.	384;366	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	366;366;384;366;384	ENSP00000421705:R366M;ENSP00000411904:R366M;ENSP00000424853:R384M;ENSP00000423811:R366M;ENSP00000421646:R384M	ENSP00000411904:R366M	R	-	2	0	CPNE4	132757050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.207000	0.42788	2.580000	0.87095	0.655000	0.94253	AGG		0.418	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		22	106	1	0	1.10513e-12	1	1.18868e-12	22	106				
CPEB4	80315	broad.mit.edu	37	5	173378900	173378900	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173378900A>C	ENST00000265085.5	+	8	3193	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T	CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	580	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACCCACGAAAAACTATATTT	0.428																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1738-1740)aAa>aCa		cytoplasmic polyadenylation element binding protein 4							169.0	144.0	152.0					5																	173378900		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173378900A>C	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1739A>C	5.37:g.173378900A>C	ENSP00000265085:p.Lys580Thr					CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T|CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000519467.1_3'UTR	p.K580T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		8	3193	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	580			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1739A>C	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899702	0.91962	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.040740	0.85682	D	0.000000	T	0.47414	0.1444	L	0.52905	1.665	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.994	D;D;D;D;D	0.76071	0.987;0.982;0.96;0.917;0.96	T	0.45716	-0.9242	10	0.87932	D	0	-16.4703	15.993	0.80220	1.0:0.0:0.0:0.0	.	555;563;555;190;580	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	T	580;555;563;555;190;173	ENSP00000265085:K580T;ENSP00000429092:K555T;ENSP00000334533:K563T;ENSP00000429048:K555T;ENSP00000430345:K190T;ENSP00000427990:K173T	ENSP00000265085:K580T	K	+	2	0	CPEB4	173311506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.236000	0.73375	0.528000	0.53228	AAA		0.428	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		21	223	0	0	0	1	0	21	223				
SARAF	51669	broad.mit.edu	37	8	29923589	29923589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29923589C>A	ENST00000256255.6	-	5	1166	c.909G>T	c.(907-909)tgG>tgT	p.W303C	TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C|TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		303					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AAGCCCTATTCCACGTGCCAG	0.483																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(907-909)tgG>tgT		transmembrane protein 66							133.0	126.0	128.0					8																	29923589		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29923589C>A																												ENST00000256255.6:c.909G>T	8.37:g.29923589C>A	ENSP00000256255:p.Trp303Cys					TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C|TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C	p.W303C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	5	1166	-			303					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.909G>T	CCDS6074.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.95|13.95|13.95	2.389019|2.389019|2.389019	0.42308|0.42308|0.42308	.|.|.	.|.|.	ENSG00000133872|ENSG00000133872|ENSG00000133872	ENST00000518296|ENST00000521265|ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273	.|.|T;T;T	.|.|0.51574	.|.|0.7;0.7;0.7	5.78|5.78|5.78	4.9|4.9|4.9	0.64082|0.64082|0.64082	.|.|.	.|.|0.366629	.|.|0.29799	.|.|N	.|.|0.011163	.|T|T	.|0.68879|0.68879	.|0.3049|0.3049	M|M|M	0.85859|0.85859|0.85859	2.78|2.78|2.78	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|D;D	.|.|0.76494	.|.|0.999;0.998	.|.|D;D	.|.|0.69824	.|.|0.966;0.947	.|T|T	.|0.72763|0.72763	.|-0.4195|-0.4195	.|5|10	.|.|0.59425	.|.|D	.|.|0.04	-19.4179|-19.4179|-19.4179	10.793|10.793|10.793	0.46445|0.46445|0.46445	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.|.	.|.|303;303	.|.|B3KQQ4;Q96BY9	.|.|.;TMM66_HUMAN	X|V|C	173|303|303;131;267;131	.|.|ENSP00000256255:W303C;ENSP00000441351:W131C;ENSP00000441723:W131C	.|.|ENSP00000256255:W303C	E|G|W	-|-|-	1|2|3	0|0|0	TMEM66|TMEM66|TMEM66	30043131|30043131|30043131	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.864000|0.864000|0.864000	0.33941|0.33941|0.33941	0.009000|0.009000|0.009000	0.06853|0.06853|0.06853	2.362000|2.362000|2.362000	0.44169|0.44169|0.44169	1.441000|1.441000|1.441000	0.47550|0.47550|0.47550	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.483	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			45	368	1	0	5.7616e-29	1	6.72236e-29	45	368				
NFKBIZ	64332	broad.mit.edu	37	3	101570965	101570965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101570965G>A	ENST00000326172.5	+	2	441	c.326G>A	c.(325-327)gGc>gAc	p.G109D	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	109					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCAGAGAGGCCCCTTTCAA	0.433																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(325-327)gGc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							100.0	104.0	103.0					3																	101570965		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101570965G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.326G>A	3.37:g.101570965G>A	ENSP00000325663:p.Gly109Asp					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D	p.G109D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			2	441	+			109					B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.326G>A	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066465	0.76187	.	.	ENSG00000144802	ENST00000461724;ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;D;T	0.83163	-1.34;-1.39;-1.69;-1.39	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	D	0.87581	0.6213	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.88539	0.3108	10	0.66056	D	0.02	-22.1952	19.0279	0.92941	0.0:0.0:1.0:0.0	.	109;109	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	D	109;9;9;109;109;9	ENSP00000419800:G9D;ENSP00000377618:G9D;ENSP00000325593:G109D;ENSP00000325663:G109D	ENSP00000325593:G109D	G	+	2	0	NFKBIZ	103053655	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.314000	0.78988	2.584000	0.87258	0.563000	0.77884	GGC		0.433	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		130	503	0	0	0	1	0	130	503				
CEP164	22897	broad.mit.edu	37	11	117241887	117241887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117241887G>A	ENST00000278935.3	+	9	1004	c.857G>A	c.(856-858)aGc>aAc	p.S286N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	286					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGCCCTCCAGCCCAGGTGCA	0.552																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(856-858)aGc>aAc		centrosomal protein 164kDa							90.0	94.0	93.0					11																	117241887		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117241887G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.857G>A	11.37:g.117241887G>A	ENSP00000278935:p.Ser286Asn					CEP164_ENST00000533706.1_3'UTR	p.S286N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1004	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	286					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.857G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850435	0.32699	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.60299	0.2	5.8	5.8	0.92144	.	0.107151	0.42420	D	0.000712	T	0.69133	0.3077	M	0.71581	2.175	0.27288	N	0.957925	D;P;D	0.57257	0.964;0.873;0.979	P;P;P	0.56563	0.637;0.544;0.801	T	0.66333	-0.5950	10	0.51188	T	0.08	-5.5206	13.2253	0.59911	0.0:0.1592:0.8408:0.0	.	260;286;286	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	286;260;213	ENSP00000278935:S286N	ENSP00000278935:S286N	S	+	2	0	CEP164	116747097	0.868000	0.29978	0.837000	0.33122	0.058000	0.15608	2.306000	0.43673	2.732000	0.93576	0.650000	0.86243	AGC		0.552	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		92	481	0	0	0	1	0	92	481				
EI24	9538	broad.mit.edu	37	11	125451139	125451139	+	Nonsense_Mutation	SNP	G	G	T	rs3017282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125451139G>T	ENST00000278903.6	+	9	948	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Intron|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	236					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GTCTAACATAGAAAGGAATTG	0.368																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(706-708)Gaa>Taa		etoposide induced 2.4							96.0	93.0	94.0					11																	125451139		1826	4091	5917	SO:0001587	stop_gained	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125451139G>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.706G>T	11.37:g.125451139G>T	ENSP00000278903:p.Glu236*					STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Intron	p.E236*	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	9	948	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	236					A8K7D6|B4DKL6|Q9BUQ1	Nonsense_Mutation	SNP	ENST00000278903.6	37	c.706G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.653943	0.98412	.	.	ENSG00000149547	ENST00000278903	.	.	.	5.41	5.41	0.78517	.	0.091308	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000278903:E236X	E	+	1	0	EI24	124956349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.826000	0.97356	0.655000	0.94253	GAA		0.368	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		26	168	1	0	1.33986e-20	1	1.50291e-20	26	168				
ARGLU1	55082	broad.mit.edu	37	13	107211878	107211878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107211878G>A	ENST00000400198.3	-	2	719	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ARGLU1_ENST00000472226.1_5'Flank|ARGLU1_ENST00000375926.1_Silent_p.S8S	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	159	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCACCCTTCGGAGAACTTCT	0.478																																						ENST00000400198.3																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(475-477)Cga>Tga		arginine and glutamate rich 1							173.0	170.0	171.0					13																	107211878		1896	4124	6020	SO:0001587	stop_gained	55082							g.chr13:107211878G>A	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.475C>T	13.37:g.107211878G>A	ENSP00000383059:p.Arg159*					ARGLU1_ENST00000375926.1_Silent_p.S8S	p.R159*	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN			2	719	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		159			Glu-rich.		B4E0Y3|Q5T257|Q6IQ34	Nonsense_Mutation	SNP	ENST00000400198.3	37	c.475C>T	CCDS41906.1	.	.	.	.	.	.	.	.	.	.	G	39	7.386779	0.98252	.	.	ENSG00000134884	ENST00000400198;ENST00000426600	.	.	.	5.51	4.66	0.58398	.	0.063133	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2596	16.3132	0.82904	0.0:0.1324:0.8676:0.0	.	.	.	.	X	159;109	.	ENSP00000383059:R159X	R	-	1	2	ARGLU1	106009879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	1.308000	0.44962	0.655000	0.94253	CGA		0.478	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		42	794	0	0	0	1	0	42	794				
MATN4	8785	broad.mit.edu	37	20	43933168	43933168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43933168G>T	ENST00000372754.1	-	2	351	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.L115M|MATN4_ENST00000360607.6_Missense_Mutation_p.L115M|MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M			O95460	MATN4_HUMAN	matrilin 4	115	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGGATTGCCAGTCCCGTCATG	0.677																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(343-345)Ctg>Atg		matrilin 4							19.0	17.0	18.0					20																	43933168		2199	4294	6493	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933168G>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.343C>A	20.37:g.43933168G>T	ENSP00000361840:p.Leu115Met					MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000360607.5_Missense_Mutation_p.L115M|MATN4_ENST00000372754.1_Missense_Mutation_p.L115M|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|MATN4_ENST00000372753.1_Intron	p.L115M			O95460	MATN4_HUMAN			4	587	-		Myeloproliferative disorder(115;0.0122)	115			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.343C>A		.	.	.	.	.	.	.	.	.	.	G	20.1	3.932685	0.73442	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.81	3.83	0.44106	.	0.000000	0.34580	N	0.003846	D	0.90202	0.6937	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.982;1.0;0.994	D	0.90114	0.4194	10	0.52906	T	0.07	.	11.3513	0.49589	0.1481:0.0:0.8519:0.0	.	115;115;115	A6NNA4;O95460-4;O95460-2	.;.;.	M	115	ENSP00000361840:L115M;ENSP00000361842:L115M;ENSP00000243983:L115M;ENSP00000353819:L115M;ENSP00000343164:L115M;ENSP00000440328:L115M	ENSP00000255132:L115M	L	-	1	2	MATN4	43366582	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.524000	0.67105	2.506000	0.84524	0.462000	0.41574	CTG		0.677	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			26	87	1	0	1.42536e-11	1	1.52187e-11	26	87				
NPHP1	4867	broad.mit.edu	37	2	110935995	110935995	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110935995C>T	ENST00000393272.3	-	4	427				NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000418527.1_Missense_Mutation_p.A112T|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)						actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGAAAGGAAGCATACTCAGTT	0.333																																						ENST00000418527.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(334-336)Gct>Act		nephronophthisis 1 (juvenile)							141.0	135.0	137.0					2																	110935995		2203	4300	6503	SO:0001627	intron_variant	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110935995C>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.329+4G>A	2.37:g.110935995C>T						NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Intron|NPHP1_ENST00000393272.3_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000445609.2_Intron	p.A112T			O15259	NPHP1_HUMAN			4	364	-			0					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.334G>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293075	0.60086	.	.	ENSG00000144061	ENST00000418527	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.38719	0.1051	.	.	.	0.09310	N	0.999993	P	0.37330	0.59	B	0.41036	0.346	T	0.21690	-1.0238	7	0.25106	T	0.35	.	16.281	0.82687	0.0:1.0:0.0:0.0	.	112	C9J082	.	T	112	.	ENSP00000412351:A112T	A	-	1	0	NPHP1	110293284	0.848000	0.29623	0.374000	0.26016	0.251000	0.25915	3.899000	0.56288	2.780000	0.95670	0.655000	0.94253	GCT		0.333	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		9	436	0	0	0	1	0	9	436				
PABPC3	5042	broad.mit.edu	37	13	25671625	25671625	+	Missense_Mutation	SNP	G	G	A	rs150466188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671625G>A	ENST00000281589.3	+	1	1326	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	430					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCAAGTCCTCGCTGGACTGCT	0.512													g|||	6	0.00119808	0.003	0.0029	5008	,	,		24008	0.0		0.0	False		,,,				2504	0.0					ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1288-1290)cGc>cAc		poly(A) binding protein, cytoplasmic 3		G	HIS/ARG	11,4395	19.1+/-41.9	0,11,2192	160.0	156.0	157.0		1289	0.7	0.7	13	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	missense	PABPC3	NM_030979.2	29	0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923	benign	430/632	25671625	12,12994	2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671625G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1289G>A	13.37:g.25671625G>A	ENSP00000281589:p.Arg430His						p.R430H	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1326	+		Lung SC(185;0.0225)|Breast(139;0.0602)	430					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1289G>A	CCDS9311.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	10.73	1.431968	0.25813	0.002497	1.16E-4	ENSG00000151846	ENST00000281589	T	0.30182	1.54	0.664	0.664	0.17890	.	0.428123	0.18857	U	0.129224	T	0.20373	0.0490	M	0.71206	2.165	0.36017	D	0.838447	B	0.26195	0.144	B	0.21708	0.036	T	0.14952	-1.0454	10	0.34782	T	0.22	.	7.0697	0.25171	1.0E-4:0.0:0.9999:0.0	.	430	Q9H361	PABP3_HUMAN	H	430	ENSP00000281589:R430H	ENSP00000281589:R430H	R	+	2	0	PABPC3	24569625	1.000000	0.71417	0.701000	0.30321	0.012000	0.07955	3.832000	0.55783	0.593000	0.29745	0.313000	0.20887	CGC		0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		126	706	0	0	0	1	0	126	706				
ZEB2	9839	broad.mit.edu	37	2	145161567	145161567	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145161567A>G	ENST00000558170.2	-	6	1907	c.723T>C	c.(721-723)ttT>ttC	p.F241F	ZEB2_ENST00000303660.4_Silent_p.F241F|ZEB2_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000539609.3_Silent_p.F217F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	241					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGGCAGGAAAAGTTCTCTT	0.562																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(721-723)ttT>ttC		zinc finger E-box binding homeobox 2							250.0	239.0	243.0					2																	145161567		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145161567A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.723T>C	2.37:g.145161567A>G						ZEB2_ENST00000539609.3_Silent_p.F217F|ZEB2_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000303660.4_Silent_p.F241F	p.F241F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1907	-			241					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.723T>C	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	6.344	0.431506	0.12045	.	.	ENSG00000169554	ENST00000419938	T	0.32988	1.43	5.65	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19647	-1.0299	7	0.72032	D	0.01	-9.4435	8.6271	0.33897	0.6345:0.0:0.3655:0.0	.	.	.	.	S	130	ENSP00000394777:F130S	ENSP00000394777:F130S	F	-	2	0	ZEB2	144878037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.639000	0.37176	0.118000	0.18165	0.533000	0.62120	TTT		0.562	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		68	599	0	0	0	1	0	68	599				
SIGLEC6	946	broad.mit.edu	37	19	52033991	52033991	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52033991A>C	ENST00000425629.3	-	3	804	c.650T>G	c.(649-651)gTg>gGg	p.V217G	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.V217G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	217	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGAACGTCACCTGACAGGT	0.662																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(649-651)gTg>gGg		sialic acid binding Ig-like lectin 6							62.0	69.0	66.0					19																	52033991		2202	4300	6502	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033991A>C	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.650T>G	19.37:g.52033991A>C	ENSP00000401502:p.Val217Gly					SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.V217G	p.V217G	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	718	-		all_neural(266;0.0199)	217			Ig-like C2-type 1.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.650T>G	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711806	0.30322	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	3.6	2.57	0.30868	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.33691	N	0.004643	T	0.59918	0.2229	H	0.94462	3.54	0.46609	D	0.999123	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;D;D;D	0.87578	0.995;0.998;0.991;0.991;0.995;0.995	T	0.60414	-0.7268	10	0.87932	D	0	.	5.5093	0.16872	0.8679:0.0:0.1321:0.0	.	217;181;206;217;217;217	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	G	206;217;217;217;181;217	ENSP00000401502:V217G;ENSP00000353071:V217G;ENSP00000410679:V181G;ENSP00000345907:V217G	ENSP00000345907:V217G	V	-	2	0	SIGLEC6	56725803	0.012000	0.17670	0.508000	0.27688	0.115000	0.19883	0.974000	0.29436	0.569000	0.29329	0.460000	0.39030	GTG		0.662	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		99	409	0	0	0	1	0	99	409				
TCF7L1	83439	broad.mit.edu	37	2	85536398	85536398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85536398C>T	ENST00000282111.3	+	12	1855	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	527					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCGGCTAAGGCTGCAGCCTCC	0.692																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1579-1581)gCt>gTt		transcription factor 7-like 1 (T-cell specific, HMG-box)							30.0	30.0	30.0					2																	85536398		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536398C>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1580C>T	2.37:g.85536398C>T	ENSP00000282111:p.Ala527Val						p.A527V	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			12	1855	+			527					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1580C>T	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688751	0.48097	.	.	ENSG00000152284	ENST00000282111	D	0.98567	-5.0	5.36	3.56	0.40772	.	0.976044	0.08419	N	0.948663	D	0.95762	0.8621	L	0.40543	1.245	0.37249	D	0.906489	B	0.18310	0.027	B	0.08055	0.003	D	0.91369	0.5118	10	0.33141	T	0.24	.	9.1199	0.36780	0.0:0.7715:0.1479:0.0806	.	527	Q9HCS4	TF7L1_HUMAN	V	527	ENSP00000282111:A527V	ENSP00000282111:A527V	A	+	2	0	TCF7L1	85389909	1.000000	0.71417	0.777000	0.31699	0.606000	0.37113	6.588000	0.74076	0.829000	0.34733	-0.136000	0.14681	GCT		0.692	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		87	257	0	0	0	1	0	87	257				
LAMA5	3911	broad.mit.edu	37	20	60906108	60906108	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60906108G>A	ENST00000252999.3	-	29	3696	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1210	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAAAGGCGCCGTGGCTGCTGA	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(3628-3630)caC>caT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						21.0	24.0	23.0					20																	60906108		2196	4299	6495	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60906108G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3630C>T	20.37:g.60906108G>A							p.H1210H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		29	3696	-	Breast(26;1.57e-08)		1210			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.3630C>T	CCDS33502.1																																																																																				0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		23	86	0	0	0	1	0	23	86				
HUWE1	10075	broad.mit.edu	37	X	53631738	53631738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53631738G>A	ENST00000342160.3	-	25	3011	c.2554C>T	c.(2554-2556)Ctc>Ttc	p.L852F	HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F|HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	852					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGGAGGAGAGGATGGAGTCC	0.493																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(2554-2556)Ctc>Ttc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							65.0	63.0	64.0					X																	53631738		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53631738G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2554C>T	X.37:g.53631738G>A	ENSP00000340648:p.Leu852Phe					HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F|HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F	p.L852F			Q7Z6Z7	HUWE1_HUMAN			25	3011	-			852					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2554C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267939	0.80469	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.54279	0.88;0.88;0.58	5.88	5.88	0.94601	.	0.197114	0.33534	N	0.004814	T	0.71239	0.3316	L	0.61218	1.895	0.51767	D	0.999938	D	0.89917	1.0	D	0.76071	0.987	T	0.72997	-0.4121	10	0.72032	D	0.01	.	17.8502	0.88744	0.0:0.0:1.0:0.0	.	852	Q7Z6Z7	HUWE1_HUMAN	F	852	ENSP00000340648:L852F;ENSP00000262854:L852F;ENSP00000218328:L852F	ENSP00000218328:L852F	L	-	1	0	HUWE1	53648463	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.910000	0.63321	2.489000	0.83994	0.600000	0.82982	CTC		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		7	224	0	0	0	1	0	7	224				
DOCK8	81704	broad.mit.edu	37	9	376229	376229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:376229C>A	ENST00000453981.1	+	19	2241	c.2129C>A	c.(2128-2130)cCt>cAt	p.P710H	DOCK8_ENST00000469391.1_Missense_Mutation_p.P642H|DOCK8_ENST00000432829.2_Missense_Mutation_p.P642H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H|DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	710	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTACAGAATCCTCCCATTAAG	0.373																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1924-1926)cCt>cAt		dedicator of cytokinesis 8							125.0	124.0	124.0					9																	376229		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:376229C>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2129C>A	9.37:g.376229C>A	ENSP00000408464:p.Pro710His					DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P710H|DOCK8_ENST00000469391.1_Missense_Mutation_p.P642H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H	p.P642H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	19	2241	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	710					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1925C>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329458	0.81690	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.44881	2.23;2.23;2.25;0.91;2.04	5.66	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.99;1.0	D;D;D;D	0.91635	0.961;0.999;0.972;0.998	T	0.75657	-0.3242	10	0.87932	D	0	.	14.5025	0.67732	0.0:0.9297:0.0:0.0703	.	12;642;177;710	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	H	710;710;642;642;12;177	ENSP00000408464:P710H;ENSP00000394888:P642H;ENSP00000419438:P642H;ENSP00000371768:P12H;ENSP00000371766:P177H	ENSP00000287364:P710H	P	+	2	0	DOCK8	366229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.621000	0.67743	1.388000	0.46506	0.650000	0.86243	CCT		0.373	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		103	442	1	0	1.61456e-63	1	2.03829e-63	103	442				
IER3	8870	broad.mit.edu	37	6	30708465	30708465	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30708465G>A	ENST00000259874.5	-	0	1244				XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Silent_p.H107H|FLOT1_ENST00000376389.3_Silent_p.H155H	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CCTGGTCATCGTGAATGTCCT	0.478																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(463-465)caC>caT		flotillin 1							194.0	186.0	189.0					6																	30708465		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30708465G>A	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30708465G>A						FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Silent_p.H107H	p.H155H	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			6	685	-			155					Q5SU30|Q92691|Q93044	Silent	SNP	ENST00000259874.5	37	c.465C>T	CCDS4689.1																																																																																				0.478	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			100	516	0	0	0	1	0	100	516				
ZNF415	55786	broad.mit.edu	37	19	53612071	53612071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612071C>T	ENST00000500065.4	-	4	1560	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000455735.2_Silent_p.E457E|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.E457E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000421033.1_Silent_p.E421E	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGTAAGGTTTCTCTCCAGTAT	0.408																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1369-1371)gaG>gaA		zinc finger protein 415							71.0	71.0	71.0					19																	53612071		2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612071C>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1227G>A	19.37:g.53612071C>T						ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000421033.1_Silent_p.E421E|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.E409E|ZNF415_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.E457E	p.E457E			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1691	-			457					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.1371G>A	CCDS54313.1																																																																																				0.408	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		68	266	0	0	0	1	0	68	266				
RSPRY1	89970	broad.mit.edu	37	16	57272872	57272872	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57272872T>G	ENST00000537866.1	+	15	2589	c.1716T>G	c.(1714-1716)atT>atG	p.I572M	RSPRY1_ENST00000394420.4_Missense_Mutation_p.I572M|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	572						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCAGACAGATTTCTCATATTT	0.393																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(1714-1716)atT>atG		ring finger and SPRY domain containing 1							93.0	81.0	85.0					16																	57272872		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57272872T>G	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1716T>G	16.37:g.57272872T>G	ENSP00000443176:p.Ile572Met					RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.I572M	p.I572M			Q96DX4	RSPRY_HUMAN			15	2589	+			572					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1716T>G	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572026	0.45798	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.86366	-2.11;-2.11	5.73	0.987	0.19790	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.67397	2.05	0.49051	D	0.999746	D	0.56521	0.976	P	0.50659	0.647	T	0.81957	-0.0695	10	0.52906	T	0.07	.	5.7173	0.17968	0.1194:0.3027:0.0:0.5779	.	572	Q96DX4	RSPRY_HUMAN	M	572	ENSP00000377942:I572M;ENSP00000443176:I572M	ENSP00000377942:I572M	I	+	3	3	RSPRY1	55830373	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.341000	0.19909	0.105000	0.17753	0.533000	0.62120	ATT		0.393	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		10	232	0	0	0	1	0	10	232				
CEP135	9662	broad.mit.edu	37	4	56831839	56831839	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56831839C>T	ENST00000257287.4	+	8	982	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	286					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTAATAAAGACCTGGAGAAGC	0.328																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(856-858)gaC>gaT		centrosomal protein 135kDa							52.0	51.0	51.0					4																	56831839		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56831839C>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.858C>T	4.37:g.56831839C>T							p.D286D	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			8	982	+	Glioma(25;0.08)|all_neural(26;0.101)		286					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.858C>T	CCDS33986.1																																																																																				0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		39	155	0	0	0	1	0	39	155				
SPOCD1	90853	broad.mit.edu	37	1	32262200	32262200	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32262200C>T	ENST00000360482.2	-	10	2391	c.2262G>A	c.(2260-2262)gaG>gaA	p.E754E	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000533231.1_Silent_p.E754E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	754					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ccaccaGATCCTCCAGGGTCA	0.602																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2260-2262)gaG>gaA		SPOC domain containing 1							162.0	126.0	138.0					1																	32262200		2203	4300	6503	SO:0001819	synonymous_variant	90853				transcription, DNA-dependent			g.chr1:32262200C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2262G>A	1.37:g.32262200C>T						SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.E754E	p.E754E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	10	2391	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	754					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	c.2262G>A	CCDS347.1																																																																																				0.602	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		50	415	0	0	0	1	0	50	415				
ZNF646	9726	broad.mit.edu	37	16	31089384	31089384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31089384G>A	ENST00000394979.2	+	1	2162	c.1739G>A	c.(1738-1740)tGt>tAt	p.C580Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y			O15015	ZN646_HUMAN	zinc finger protein 646	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGCATCTGTGGGCTGCTC	0.532																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1738-1740)tGt>tAt		zinc finger protein 646							98.0	102.0	101.0					16																	31089384		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089384G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1739G>A	16.37:g.31089384G>A	ENSP00000378429:p.Cys580Tyr					ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y	p.C580Y			O15015	ZN646_HUMAN			1	2162	+			580					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1739G>A		.	.	.	.	.	.	.	.	.	.	G	17.61	3.431314	0.62844	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.57752	0.38;0.38	5.2	5.2	0.72013	.	.	.	.	.	T	0.61739	0.2371	L	0.32530	0.975	0.43300	D	0.995291	D	0.67145	0.996	D	0.63192	0.912	T	0.64732	-0.6338	9	0.87932	D	0	-3.1242	17.6776	0.88235	0.0:0.0:1.0:0.0	.	580	O15015-2	.	Y	580	ENSP00000300850:C580Y;ENSP00000378429:C580Y	ENSP00000300850:C580Y	C	+	2	0	ZNF646	30996885	1.000000	0.71417	0.982000	0.44146	0.936000	0.57629	2.425000	0.44723	2.722000	0.93159	0.655000	0.94253	TGT		0.532	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		57	318	0	0	0	1	0	57	318				
CACNA1C	775	broad.mit.edu	37	12	2774091	2774091	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2774091A>C	ENST00000347598.4	+	37	4477	c.4477A>C	c.(4477-4479)Aca>Cca	p.T1493P	CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1493	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGGGTGAAACACCCTGTGG	0.587																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4333-4335)Aca>Cca		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						54.0	59.0	57.0					12																	2774091		2203	4300	6503	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2774091A>C	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4477A>C	12.37:g.2774091A>C	ENSP00000266376:p.Thr1493Pro					CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1493P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P	p.T1445P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	35	4598	+			1493					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4333A>C	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	5.093	0.202823	0.09652	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96365	-3.92;-3.92;-3.92;-3.88;-3.91;-3.93;-3.83;-3.88;-3.91;-3.81;-3.84;-3.92;-3.94;-3.83;-3.76;-3.99;-3.93;-3.91;-3.94;-3.85;-3.94;-3.99	4.07	-1.38	0.09027	Ion transport (1);	0.447550	0.25619	N	0.029437	D	0.88153	0.6360	N	0.04959	-0.14	0.09310	N	1	B;P;P;B;B;B;P;B;B;B;B;P;B;B;P;B;P;B;B;B;B;B;B;B;B	0.45827	0.001;0.755;0.49;0.009;0.351;0.351;0.49;0.228;0.016;0.129;0.228;0.683;0.009;0.429;0.492;0.003;0.867;0.0;0.351;0.0;0.256;0.351;0.351;0.003;0.256	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44518	0.005;0.452;0.315;0.032;0.334;0.264;0.315;0.322;0.141;0.15;0.264;0.409;0.022;0.322;0.357;0.026;0.439;0.003;0.334;0.003;0.099;0.264;0.264;0.005;0.176	D	0.84372	0.0544	10	0.40728	T	0.16	.	5.47	0.16664	0.3668:0.3625:0.2706:0.0	.	136;1467;1442;1493;1445;1445;1445;1462;1473;1445;1465;1445;1405;1493;1445;1445;1445;1434;1432;1434;1434;1445;1445;1445;1445	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	1470;1445;1445;1473;1445;1445;1445;1434;1445;1493;1465;1445;1467;1462;1445;1432;1445;1445;1445;1445;1445;1434;1275	ENSP00000336982:T1470P;ENSP00000382563:T1445P;ENSP00000382552:T1445P;ENSP00000382547:T1473P;ENSP00000382506:T1445P;ENSP00000382530:T1445P;ENSP00000382546:T1445P;ENSP00000382500:T1434P;ENSP00000382549:T1445P;ENSP00000266376:T1493P;ENSP00000382515:T1465P;ENSP00000382510:T1445P;ENSP00000341092:T1467P;ENSP00000382537:T1462P;ENSP00000329877:T1445P;ENSP00000382557:T1432P;ENSP00000385724:T1445P;ENSP00000382512:T1445P;ENSP00000382542:T1445P;ENSP00000382526:T1445P;ENSP00000385896:T1445P;ENSP00000382504:T1434P	ENSP00000323129:T1275P	T	+	1	0	CACNA1C	2644352	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.426000	0.21363	-0.335000	0.08451	-1.251000	0.01509	ACA		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		24	143	0	0	0	1	0	24	143				
SLITRK5	26050	broad.mit.edu	37	13	88329270	88329270	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329270T>G	ENST00000325089.6	+	2	1846	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	543					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTCACCTCCTTGCCAGTGAG	0.512																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1627-1629)Ttg>Gtg		SLIT and NTRK-like family, member 5							93.0	92.0	93.0					13																	88329270		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329270T>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1627T>G	13.37:g.88329270T>G	ENSP00000366283:p.Leu543Val					SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	p.L543V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1846	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		543					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1627T>G	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415636	0.42817	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59502	0.26;0.26	5.22	-0.313	0.12754	.	0.000000	0.64402	D	0.000004	T	0.60248	0.2254	L	0.38649	1.16	0.43942	D	0.996606	D;D	0.76494	0.999;0.995	D;D	0.79784	0.993;0.971	T	0.54221	-0.8326	9	.	.	.	-8.1908	9.6475	0.39877	0.0:0.6669:0.0:0.3331	.	302;543	B4DSH5;O94991	.;SLIK5_HUMAN	V	543;302	ENSP00000366283:L543V;ENSP00000442244:L302V	.	L	+	1	2	SLITRK5	87127271	0.893000	0.30496	0.991000	0.47740	0.939000	0.58152	0.049000	0.14099	-0.041000	0.13558	-0.421000	0.06004	TTG		0.512	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			103	429	0	0	0	1	0	103	429				
CHST6	4166	broad.mit.edu	37	16	75512732	75512732	+	Missense_Mutation	SNP	G	G	T	rs144301922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75512732G>T	ENST00000332272.4	-	3	1174	c.995C>A	c.(994-996)gCc>gAc	p.A332D	CHST6_ENST00000390664.2_Missense_Mutation_p.A332D|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	332					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGGCGCCAGGCCTGGGAGAC	0.642																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(994-996)gCc>gAc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							65.0	59.0	61.0					16																	75512732		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512732G>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.995C>A	16.37:g.75512732G>T	ENSP00000328983:p.Ala332Asp					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A332D	p.A332D	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	1174	-			332					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.995C>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225761	0.79576	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	T;T	0.79554	-1.28;-1.28	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	M	0.89287	3.02	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.89635	0.3858	10	0.27082	T	0.32	.	15.563	0.76266	0.0:0.0:1.0:0.0	.	332	Q9GZX3	CHST6_HUMAN	D	332	ENSP00000328983:A332D;ENSP00000375079:A332D	ENSP00000328983:A332D	A	-	2	0	CHST6	74070233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.740000	0.84986	2.278000	0.76064	0.591000	0.81541	GCC		0.642	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		18	497	1	0	5.03518e-11	1	5.3609e-11	18	497				
CHD6	84181	broad.mit.edu	37	20	40045244	40045244	+	Missense_Mutation	SNP	G	G	A	rs552643669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40045244G>A	ENST00000373233.3	-	33	6647	c.6470C>T	c.(6469-6471)gCg>gTg	p.A2157V	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2157					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GATCTGGGCCGCCAATGCTGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17758	0.0		0.0	False		,,,				2504	0.001					ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6469-6471)gCg>gTg		chromodomain helicase DNA binding protein 6							97.0	86.0	90.0					20																	40045244		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045244G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6470C>T	20.37:g.40045244G>A	ENSP00000362330:p.Ala2157Val						p.A2157V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			33	6647	-		Myeloproliferative disorder(115;0.00425)	2157					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6470C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	2.525	-0.309776	0.05458	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.46	2.2	0.27929	.	0.217621	0.32231	N	0.006392	T	0.49695	0.1572	N	0.00197	-1.87	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.52426	-0.8577	10	0.13853	T	0.58	-7.7668	7.6075	0.28110	0.5998:0.0:0.4002:0.0	.	2157	Q8TD26	CHD6_HUMAN	V	2157	ENSP00000362330:A2157V	ENSP00000362330:A2157V	A	-	2	0	CHD6	39478658	0.006000	0.16342	0.838000	0.33150	0.043000	0.13939	0.921000	0.28718	0.248000	0.21435	-0.126000	0.14955	GCG		0.552	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			18	509	0	0	0	1	0	18	509				
LYST	1130	broad.mit.edu	37	1	235826308	235826308	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235826308G>A	ENST00000389794.3	-	53	11512	c.11338C>T	c.(11338-11340)Cgg>Tgg	p.R3780W	LYST_ENST00000389793.2_Missense_Mutation_p.R3780W|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3780					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGTCCTTCCGACACCAGGCA	0.453																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(11338-11340)Cgg>Tgg		lysosomal trafficking regulator							112.0	114.0	113.0					1																	235826308		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235826308G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11338C>T	1.37:g.235826308G>A	ENSP00000374444:p.Arg3780Trp					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3780W	p.R3780W			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		53	11512	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3780					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.11338C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974511	0.92919	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28666	1.6;1.6	5.87	4.94	0.65067	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056042	0.64402	D	0.000001	T	0.41143	0.1146	N	0.16833	0.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48433	-0.9036	10	0.87932	D	0	.	16.154	0.81644	0.0:0.0:0.8655:0.1345	.	3780	Q99698	LYST_HUMAN	W	3780	ENSP00000374444:R3780W;ENSP00000374443:R3780W	ENSP00000374443:R3780W	R	-	1	2	LYST	233892931	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.789000	0.85783	1.443000	0.47586	0.655000	0.94253	CGG		0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			161	506	0	0	0	1	0	161	506				
CHRNA9	55584	broad.mit.edu	37	4	40351187	40351187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351187C>T	ENST00000310169.2	+	4	793	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	218					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TCTCCTATGGCTGCTGCTCTG	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(652-654)ggC>ggT		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						267.0	244.0	252.0					4																	40351187		2203	4300	6503	SO:0001819	synonymous_variant	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351187C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.654C>T	4.37:g.40351187C>T							p.G218G	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	793	+			218					Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	c.654C>T	CCDS3459.1																																																																																				0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			279	1276	0	0	0	1	0	279	1276				
GLRA4	441509	broad.mit.edu	37	X	102974199	102974199	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:102974199C>A	ENST00000372617.4	-	7	1139	c.719G>T	c.(718-720)gGg>gTg	p.G240V	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	240						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGTGAATTTCCCTGCAAGGAG	0.552																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.e7-1		glycine receptor, alpha 4							79.0	81.0	81.0					X																	102974199		2195	4288	6483	SO:0001630	splice_region_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102974199C>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.719-1G>T	X.37:g.102974199C>A							p.G240_splice	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			7	1139	-			240						Splice_Site	SNP	ENST00000372617.4	37	c.718_splice	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252104	0.80135	.	.	ENSG00000188828	ENST00000372617	T	0.81163	-1.46	5.29	5.29	0.74685	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94951	0.8100	10	0.87932	D	0	.	15.6	0.76616	0.0:1.0:0.0:0.0	.	240;199	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	V	240	ENSP00000361700:G240V	ENSP00000361700:G240V	G	-	2	0	GLRA4	102860855	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.818000	0.86416	2.366000	0.80165	0.600000	0.82982	GGG		0.552	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452	Missense_Mutation	18	445	1	0	5.01169e-05	1	5.1097e-05	18	445				
FASTKD3	79072	broad.mit.edu	37	5	7868079	7868079	+	Missense_Mutation	SNP	G	G	A	rs540585802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7868079G>A	ENST00000264669.5	-	2	254	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	40					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCACAGACGCTCCTTGACT	0.408																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(118-120)Cgt>Tgt		FAST kinase domains 3							94.0	102.0	99.0					5																	7868079		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7868079G>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.118C>T	5.37:g.7868079G>A	ENSP00000264669:p.Arg40Cys					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.R40C	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	254	-			40					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.118C>T	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	9.046	0.990783	0.18966	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.24908	1.83;1.83;1.83	4.79	-0.638	0.11500	.	2.565830	0.01078	N	0.004921	T	0.18718	0.0449	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.18935	-1.0321	10	0.42905	T	0.14	-0.6029	3.6307	0.08130	0.3878:0.0:0.432:0.1802	.	40	Q14CZ7	FAKD3_HUMAN	C	40;40;23	ENSP00000264669:R40C;ENSP00000426008:R40C;ENSP00000422443:R23C	ENSP00000264669:R40C	R	-	1	0	FASTKD3	7921079	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.420000	0.21263	-0.001000	0.14495	-0.137000	0.14449	CGT		0.408	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		40	383	0	0	0	1	0	40	383				
AKAP2	11217	broad.mit.edu	37	9	112899457	112899457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899457G>A	ENST00000259318.7	+	2	1147	c.940G>A	c.(940-942)Gag>Aag	p.E314K	AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E545K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E403K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	314										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CAAAGCAAAGGAGGACATTGT	0.542																																						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.(1633-1635)Gag>Aag									24.0	21.0	22.0					9																	112899457		2196	4284	6480	SO:0001583	missense	0						enzyme binding	g.chr9:112899457G>A	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.940G>A	9.37:g.112899457G>A	ENSP00000259318:p.Glu314Lys					AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|AKAP2_ENST00000259318.7_Missense_Mutation_p.E314K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E403K	p.E545K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1813	+			314					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1633G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218387	0.39201	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.43	4.53	0.55603	.	0.102279	0.64402	N	0.000004	T	0.48874	0.1524	L	0.51422	1.61	0.45567	D	0.998519	B;B;B;B;B;B;B;B	0.24043	0.008;0.003;0.007;0.015;0.008;0.096;0.096;0.004	B;B;B;B;B;B;B;B	0.29524	0.007;0.009;0.004;0.012;0.005;0.103;0.062;0.004	T	0.51834	-0.8655	10	0.59425	D	0.04	-20.5912	12.6927	0.56985	0.0784:0.0:0.9216:0.0	.	314;403;397;403;404;545;545;363	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	545;545;545;545;403;403;363;314	ENSP00000363654:E545K;ENSP00000305861:E545K;ENSP00000451476:E545K;ENSP00000421522:E545K;ENSP00000404782:E403K;ENSP00000363649:E403K;ENSP00000419268:E363K;ENSP00000259318:E314K	ENSP00000259318:E314K	E	+	1	0	PALM2-AKAP2;AKAP2	111939278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.894000	0.48640	2.546000	0.85860	0.655000	0.94253	GAG		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	136	0	0	0	1	0	5	136				
GARS	2617	broad.mit.edu	37	7	30656818	30656818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30656818G>A	ENST00000389266.3	+	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	428					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GATAAACTCCGCTTCCGGCAG	0.458																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(1282-1284)cGc>cAc		glycyl-tRNA synthetase	Glycine(DB00145)						146.0	137.0	140.0					7																	30656818		1938	4155	6093	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30656818G>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1283G>A	7.37:g.30656818G>A	ENSP00000373918:p.Arg428His						p.R428H	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			10	1524	+			428					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.1283G>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200674	0.94997	.	.	ENSG00000106105	ENST00000389266	T	0.72051	-0.62	5.22	5.22	0.72569	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.87002	0.6069	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89500	0.3763	10	0.87932	D	0	-9.9164	16.6573	0.85232	0.0:0.0:1.0:0.0	.	428	P41250	SYG_HUMAN	H	428	ENSP00000373918:R428H	ENSP00000373918:R428H	R	+	2	0	GARS	30623343	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC		0.458	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		69	309	0	0	0	1	0	69	309				
PCDHA5	56143	broad.mit.edu	37	5	140202462	140202462	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202462A>G	ENST00000529859.1	+	1	1102	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	368	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGGTCATTGCTCTGAT	0.537																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1102-1104)Att>Gtt									106.0	95.0	99.0					5																	140202462		2203	4300	6503	SO:0001583	missense	0							g.chr5:140202462A>G	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1102A>G	5.37:g.140202462A>G	ENSP00000436557:p.Ile368Val					PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.I368V	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1102	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1102A>G	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.614497	0.00835	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.41758	0.99;0.99;0.99	3.84	3.84	0.44239	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28067	0.0692	N	0.02357	-0.585	0.24350	N	0.994924	B;B;B	0.27971	0.196;0.163;0.163	P;B;B	0.46208	0.507;0.133;0.21	T	0.40136	-0.9579	9	0.38643	T	0.18	.	4.7341	0.12979	0.7127:0.0:0.2873:0.0	.	368;368;368	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	368	ENSP00000433416:I368V;ENSP00000436557:I368V;ENSP00000367366:I368V	ENSP00000367366:I368V	I	+	1	0	PCDHA5	140182646	0.615000	0.27026	0.168000	0.22838	0.075000	0.17131	1.124000	0.31320	1.492000	0.48499	0.460000	0.39030	ATT		0.537	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		111	439	0	0	0	1	0	111	439				
EYS	346007	broad.mit.edu	37	6	66053985	66053985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66053985G>A	ENST00000370621.3	-	10	2071	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	EYS_ENST00000370618.3_Silent_p.N515N|EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000342421.5_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000503581.1_Silent_p.N515N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	515					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTCAGGATCGTTCACATAGG	0.373																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1543-1545)aaC>aaT		eyes shut homolog (Drosophila)							98.0	98.0	98.0					6																	66053985		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66053985G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1545C>T	6.37:g.66053985G>A						EYS_ENST00000370618.3_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000342421.5_Silent_p.N515N|EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000370621.3_Silent_p.N515N	p.N515N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			10	2082	-			515					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.1545C>T																																																																																					0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		59	272	0	0	0	1	0	59	272				
LRRN2	10446	broad.mit.edu	37	1	204587617	204587617	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587617G>T	ENST00000367175.1	-	1	3716	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	502	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCCCCACCAGGTTCTGGGCC	0.652																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1504-1506)Ctg>Atg		leucine rich repeat neuronal 2							70.0	69.0	69.0					1																	204587617		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587617G>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1504C>A	1.37:g.204587617G>T	ENSP00000356143:p.Leu502Met					LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M|LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M	p.L502M			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3716	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		502			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1504C>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690355	0.29962	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67171	-0.25;-0.25;-0.25	5.37	2.4	0.29515	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32120	N	0.006559	T	0.68559	0.3014	L	0.31752	0.955	0.35431	D	0.794037	D	0.89917	1.0	D	0.87578	0.998	T	0.72197	-0.4363	10	0.44086	T	0.13	.	9.3331	0.38034	0.3601:0.0:0.6399:0.0	.	502	O75325	LRRN2_HUMAN	M	502	ENSP00000356144:L502M;ENSP00000356145:L502M;ENSP00000356143:L502M	ENSP00000356143:L502M	L	-	1	2	LRRN2	202854240	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.626000	0.24492	0.615000	0.30124	0.591000	0.81541	CTG		0.652	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		76	238	1	0	5.02462e-34	1	5.96784e-34	76	238				
MELK	9833	broad.mit.edu	37	9	36589623	36589623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36589623G>A	ENST00000298048.2	+	4	419	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	MELK_ENST00000536860.1_Missense_Mutation_p.A79T|MELK_ENST00000541717.1_Missense_Mutation_p.A79T|MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000543751.1_Missense_Mutation_p.A47T|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000536329.1_Intron|MELK_ENST00000487398.1_3'UTR	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GCTAGAGACAGCCAACAAAAT	0.383																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(139-141)Gcc>Acc		maternal embryonic leucine zipper kinase							162.0	142.0	149.0					9																	36589623		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36589623G>A	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.235G>A	9.37:g.36589623G>A	ENSP00000298048:p.Ala79Thr					MELK_ENST00000536860.1_Missense_Mutation_p.A79T|MELK_ENST00000536329.1_Intron|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000298048.2_Missense_Mutation_p.A79T|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000541717.1_Missense_Mutation_p.A79T	p.A47T	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	284	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	79			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.139G>A	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634630	0.29068	.	.	ENSG00000165304	ENST00000298048;ENST00000545008;ENST00000536860;ENST00000541717;ENST00000543751	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.21	1.06	0.20224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.606548	0.18547	N	0.138023	T	0.10208	0.0250	N	0.10837	0.055	0.49582	D	0.999807	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.001;0.002	T	0.18493	-1.0335	10	0.45353	T	0.12	1.4915	0.5174	0.00605	0.2484:0.2733:0.2663:0.212	.	47;79;79;79;47;79	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A7;Q14680	.;.;.;.;.;MELK_HUMAN	T	79;79;79;79;47	ENSP00000298048:A79T;ENSP00000445452:A79T;ENSP00000439792:A79T;ENSP00000437804:A79T;ENSP00000441596:A47T	ENSP00000298048:A79T	A	+	1	0	MELK	36579623	0.482000	0.25948	0.999000	0.59377	0.994000	0.84299	0.017000	0.13399	0.213000	0.20722	0.655000	0.94253	GCC		0.383	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		21	416	0	0	0	1	0	21	416				
C9orf50	375759	broad.mit.edu	37	9	132375527	132375527	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375527G>A	ENST00000372478.4	-	6	1248	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	349										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCTTCTGGGTGGACCTGGGGG	0.632																																						ENST00000372478.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1045-1047)tcC>tcT		chromosome 9 open reading frame 50							40.0	38.0	39.0					9																	132375527		2201	4294	6495	SO:0001819	synonymous_variant	375759							g.chr9:132375527G>A	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1047C>T	9.37:g.132375527G>A						NTMT1_ENST00000372486.1_Intron	p.S349S	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN			6	1248	-		Ovarian(14;0.00556)	349					Q2M1I2|Q8NA65	Silent	SNP	ENST00000372478.4	37	c.1047C>T	CCDS35159.1																																																																																				0.632	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		52	224	0	0	0	1	0	52	224				
NELFE	7936	broad.mit.edu	37	6	31922863	31922863	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31922863C>T	ENST00000375429.3	-	6	603	c.377G>A	c.(376-378)cGt>cAt	p.R126H	NELFE_ENST00000375425.5_Missense_Mutation_p.R133H|NELFE_ENST00000444811.2_Missense_Mutation_p.R126H|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	126					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCTCTGGGGACGTCTGGATGA	0.458																																						ENST00000375429.3																			0											c.(376-378)cGt>cAt		negative elongation factor complex member E							93.0	100.0	97.0					6																	31922863		1511	2709	4220	SO:0001583	missense	7936							g.chr6:31922863C>T	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.377G>A	6.37:g.31922863C>T	ENSP00000364578:p.Arg126His					NELFE_ENST00000444811.2_Missense_Mutation_p.R126H|NELFE_ENST00000375425.5_Missense_Mutation_p.R133H	p.R126H	NM_002904.5	NP_002895.3					6	603	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.377G>A	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	c	19.40	3.819864	0.71028	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289;ENST00000426722	T;T;T;T;T;T	0.42131	1.47;1.47;1.47;0.98;1.47;0.98	5.79	4.93	0.64822	.	0.061417	0.64402	N	0.000010	T	0.40595	0.1123	L	0.32530	0.975	0.40364	D	0.979274	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;D;D;P	0.69654	0.893;0.965;0.948;0.893	T	0.36407	-0.9749	10	0.42905	T	0.14	-3.5668	14.0431	0.64689	0.0:0.9268:0.0:0.0732	.	126;126;126;126	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	H	126;133;126;126;126;126;126	ENSP00000364578:R126H;ENSP00000364574:R133H;ENSP00000388400:R126H;ENSP00000397914:R126H;ENSP00000409389:R126H;ENSP00000414029:R126H	ENSP00000364574:R133H	R	-	2	0	RDBP	32030842	1.000000	0.71417	0.999000	0.59377	0.773000	0.43773	4.743000	0.62110	1.478000	0.48253	-0.119000	0.15052	CGT		0.458	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			58	321	0	0	0	1	0	58	321				
A3GALT2	127550	broad.mit.edu	37	1	33772896	33772896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33772896C>T	ENST00000442999.3	-	5	493	c.494G>A	c.(493-495)cGc>cAc	p.R165H	RP11-415J8.3_ENST00000457957.2_RNA|A3GALT2_ENST00000330379.5_Missense_Mutation_p.R110H|RP11-415J8.3_ENST00000588828.1_RNA	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				GCGCCGCTCGCGCGCCACGCG	0.736																																						ENST00000442999.3																			0											c.(493-495)cGc>cAc		alpha 1,3-galactosyltransferase 2							6.0	7.0	7.0					1																	33772896		1581	3556	5137	SO:0001583	missense	127550							g.chr1:33772896C>T		CCDS60080.1	1p35.1	2013-09-05	2013-03-11	2013-03-11	ENSG00000184389	ENSG00000184389		"""Glycosyltransferase family 6 domain containing"""	30005	protein-coding gene	gene with protein product	"""iGb3 synthase"", ""isoglobotriaosylceramide synthase"""		"""alpha 1,3-galactosyltransferase 2, pseudogene"""	A3GALT2P		10854427, 18630988	Standard	NM_001080438		Approved	IGBS3S	uc031plq.1		OTTHUMG00000004125	ENST00000442999.3:c.494G>A	1.37:g.33772896C>T	ENSP00000475261:p.Arg165His					A3GALT2_ENST00000330379.5_Missense_Mutation_p.R110H	p.R165H	NM_001080438.1	NP_001073907.1					5	493	-		Myeloproliferative disorder(586;0.0393)							Missense_Mutation	SNP	ENST00000442999.3	37	c.494G>A																																																																																					0.736	A3GALT2-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000011861.3	NM_001080438		27	57	0	0	0	1	0	27	57				
ATP6V1B2	526	broad.mit.edu	37	8	20068811	20068811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20068811G>A	ENST00000276390.2	+	6	627	c.587G>A	c.(586-588)gGg>gAg	p.G196E		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	196					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TCTGCTGCTGGGCTACCACAC	0.448																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(586-588)gGg>gAg		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							103.0	93.0	96.0					8																	20068811		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20068811G>A	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.587G>A	8.37:g.20068811G>A	ENSP00000276390:p.Gly196Glu						p.G196E	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	6	627	+			196					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.587G>A	CCDS6014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.283492|5.283492	0.95489|0.95489	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000276390;ENST00000542368|ENST00000519667	D|.	0.85088|.	-1.94|.	5.65|5.65	5.65|5.65	0.86999|0.86999	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91219|.	0.7233|.	H|H	0.98701|0.98701	4.305|4.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.94242|.	0.7486|.	10|.	0.87932|.	D|.	0|.	-36.7028|-36.7028	18.6584|18.6584	0.91463|0.91463	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196|.	P21281|.	VATB2_HUMAN|.	E|X	196;70|185	ENSP00000276390:G196E|.	ENSP00000276390:G196E|.	G|W	+|+	2|3	0|0	ATP6V1B2|ATP6V1B2	20113091|20113091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.808000|9.808000	0.99193|0.99193	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.448	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		25	241	0	0	0	1	0	25	241				
EGR4	1961	broad.mit.edu	37	2	73519670	73519670	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519670G>A	ENST00000545030.1	-	2	759	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	EGR4_ENST00000436467.2_Silent_p.L126L	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	229	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGCATCCAGCGGGGATCTG	0.667																																						ENST00000545030.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(685-687)Ctg>Ttg		early growth response 4							22.0	27.0	25.0					2																	73519670		2200	4298	6498	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519670G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.685C>T	2.37:g.73519670G>A						EGR4_ENST00000436467.2_Silent_p.L126L	p.L229L	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN			2	759	-			125					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.685C>T	CCDS1925.2																																																																																				0.667	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		4	94	0	0	0	1	0	4	94				
DBF4B	80174	broad.mit.edu	37	17	42800334	42800334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42800334C>A	ENST00000315005.3	+	3	307	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M|DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	57	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTACTTGGATCTGCCTGCTGG	0.502																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(169-171)Ctg>Atg		DBF4 homolog B (S. cerevisiae)							86.0	84.0	85.0					17																	42800334		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42800334C>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.169C>A	17.37:g.42800334C>A	ENSP00000323663:p.Leu57Met					DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M	p.L57M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			3	307	+		Prostate(33;0.0322)	57			BRCT.		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.169C>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617235	0.66672	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005;ENST00000525011	T;T;T	0.11169	2.8;2.8;2.8	3.94	3.94	0.45596	.	0.183972	0.25327	U	0.031462	T	0.29817	0.0745	M	0.73962	2.25	0.26725	N	0.970697	D;D;D;D	0.71674	0.994;0.998;0.989;0.998	P;D;P;D	0.71656	0.906;0.962;0.862;0.974	T	0.02437	-1.1159	10	0.59425	D	0.04	-9.6037	11.6941	0.51534	0.0:1.0:0.0:0.0	.	57;41;57;57	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	M	57;57;57;57;41	ENSP00000377178:L57M;ENSP00000381381:L57M;ENSP00000323663:L57M	ENSP00000323663:L57M	L	+	1	2	DBF4B	40155860	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.100000	0.41777	2.208000	0.71279	0.555000	0.69702	CTG		0.502	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		72	317	1	0	1.356e-25	1	1.55723e-25	72	317				
AKAP9	10142	broad.mit.edu	37	7	91668085	91668085	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91668085C>A	ENST00000359028.2	+	18	4952	c.4727C>A	c.(4726-4728)tCt>tAt	p.S1576Y	AKAP9_ENST00000358100.2_Splice_Site_p.S1576Y|AKAP9_ENST00000356239.3_Splice_Site_p.S1564Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1576					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTAGACAGTCTGTAAGTATG	0.313			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e18+1		A kinase (PRKA) anchor protein 9							32.0	37.0	35.0					7																	91668085		2190	4286	6476	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91668085C>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4728+1C>A	7.37:g.91668085C>A						AKAP9_ENST00000356239.3_Splice_Site_p.S1564_splice|AKAP9_ENST00000358100.2_Splice_Site_p.S1576_splice	p.S1576_splice			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4952	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1576					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.4728_splice		.	.	.	.	.	.	.	.	.	.	C	11.03	1.518409	0.27211	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03524	3.9;3.9;3.9	5.1	2.12	0.27331	.	0.710293	0.11825	N	0.525801	T	0.05456	0.0144	L	0.57536	1.79	0.09310	N	0.999994	P;P;P;P	0.46220	0.8;0.874;0.874;0.631	B;B;B;B	0.41894	0.143;0.277;0.369;0.246	T	0.34079	-0.9843	10	0.66056	D	0.02	.	6.6724	0.23076	0.1424:0.7018:0.0:0.1558	.	1576;1564;1564;1576	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Y	1564;1576;1576;1576;1576	ENSP00000348573:S1564Y;ENSP00000351922:S1576Y;ENSP00000350813:S1576Y	ENSP00000348573:S1564Y	S	+	2	0	AKAP9	91506021	0.008000	0.16893	0.918000	0.36340	0.705000	0.40729	0.267000	0.18552	0.645000	0.30675	0.591000	0.81541	TCT		0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Missense_Mutation	15	254	1	0	7.93312e-07	1	8.20014e-07	15	254				
SLC25A44	9673	broad.mit.edu	37	1	156169976	156169976	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156169976T>G	ENST00000359511.4	+	2	510	c.338T>G	c.(337-339)cTg>cGg	p.L113R	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	113					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GTCAAATCACTGGTGGCTGGT	0.517																																						ENST00000359511.4																			0				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(337-339)cTg>cGg		solute carrier family 25, member 44							78.0	71.0	73.0					1																	156169976		2203	4300	6503	SO:0001583	missense	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156169976T>G	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.338T>G	1.37:g.156169976T>G	ENSP00000352497:p.Leu113Arg					SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R	p.L113R	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN			2	510	+	Hepatocellular(266;0.158)		113					O75034	Missense_Mutation	SNP	ENST00000359511.4	37	c.338T>G	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434458	0.83776	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	D;T	0.82526	-1.62;-1.45	5.9	5.9	0.94986	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000005	D	0.92629	0.7658	H	0.95470	3.675	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.994	D;D;D	0.74348	0.983;0.95;0.976	D	0.94587	0.7784	10	0.87932	D	0	-7.9359	14.2753	0.66175	0.0:0.0:0.0:1.0	.	113;113;113	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	R	113	ENSP00000352497:L113R;ENSP00000407560:L113R	ENSP00000352497:L113R	L	+	2	0	SLC25A44	154436600	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.825000	0.86693	2.254000	0.74563	0.482000	0.46254	CTG		0.517	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		63	197	0	0	0	1	0	63	197				
RARS	5917	broad.mit.edu	37	5	167929034	167929034	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167929034C>T	ENST00000231572.3	+	9	1035	c.981C>T	c.(979-981)gaC>gaT	p.D327D	RARS_ENST00000520421.1_3'UTR|RARS_ENST00000538719.1_Silent_p.D121D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	327					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATGCATTGGACGTCTCTTTAA	0.308																																						ENST00000231572.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22						c.(979-981)gaC>gaT		arginyl-tRNA synthetase							93.0	100.0	98.0					5																	167929034		2202	4293	6495	SO:0001819	synonymous_variant	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167929034C>T	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.981C>T	5.37:g.167929034C>T						RARS_ENST00000538719.1_Silent_p.D121D|RARS_ENST00000520421.1_3'UTR	p.D327D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	9	1035	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	327					B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	ENST00000231572.3	37	c.981C>T	CCDS4367.1																																																																																				0.308	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		32	447	0	0	0	1	0	32	447				
NAALADL1	10004	broad.mit.edu	37	11	64825602	64825602	+	Silent	SNP	G	G	A	rs144528264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64825602G>A	ENST00000358658.3	-	2	333	c.306C>T	c.(304-306)taC>taT	p.Y102Y	NAALADL1_ENST00000355721.3_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y|NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y|NAALADL1_ENST00000355369.2_Silent_p.Y102Y	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCAGCACTTCGTACGTGGAGG	0.667																																						ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(304-306)taC>taT		N-acetylated alpha-linked acidic dipeptidase-like 1		G		2,4400	4.2+/-10.8	0,2,2199	43.0	40.0	41.0		306	-2.2	0.1	11	dbSNP_134	41	0,8594		0,0,4297	no	coding-synonymous	NAALADL1	NM_005468.2		0,2,6496	AA,AG,GG		0.0,0.0454,0.0154		102/741	64825602	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825602G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.306C>T	11.37:g.64825602G>A						NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000355369.2_Silent_p.Y102Y|NAALADL1_ENST00000355721.3_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y	p.Y102Y	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			2	333	-			102					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	c.306C>T	CCDS31604.1																																																																																				0.667	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		91	308	0	0	0	1	0	91	308				
MRPL28	10573	broad.mit.edu	37	16	419132	419132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:419132G>A	ENST00000199706.8	-	3	412	c.377C>T	c.(376-378)aCt>aTt	p.T126I	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	126					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CATGGTCACAGTCACTGTGAA	0.547																																						ENST00000199706.8																			0				breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5						c.(376-378)aCt>aTt		mitochondrial ribosomal protein L28							203.0	152.0	170.0					16																	419132		2203	4300	6503	SO:0001583	missense	10573				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr16:419132G>A	U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"""Mitochondrial ribosomal proteins / large subunits"""	14484	protein-coding gene	gene with protein product		604853	"""melanoma-associated antigen recognised by cytotoxic T lymphocytes"""	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.377C>T	16.37:g.419132G>A	ENSP00000199706:p.Thr126Ile					MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I|MRPL28_ENST00000429738.1_Intron	p.T126I	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN			3	412	-		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)	126					B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Missense_Mutation	SNP	ENST00000199706.8	37	c.377C>T	CCDS32349.1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838861	0.16891	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675;ENST00000441883;ENST00000447696;ENST00000450882	T;T;T;T;T	0.33438	1.82;1.82;1.83;1.42;1.41	4.35	2.24	0.28232	.	0.156920	0.56097	D	0.000032	T	0.31575	0.0801	M	0.69823	2.125	0.49798	D	0.999828	P;P;P	0.36222	0.544;0.544;0.544	B;B;B	0.35510	0.204;0.204;0.204	T	0.31916	-0.9926	10	0.66056	D	0.02	-21.5801	10.7298	0.46089	0.1878:0.0:0.8122:0.0	.	126;126;126	A2IDC6;Q13084;Q4TT38	.;RM28_HUMAN;.	I	126	ENSP00000199706:T126I;ENSP00000374326:T126I;ENSP00000398684:T126I;ENSP00000390399:T126I;ENSP00000395305:T126I	ENSP00000199706:T126I	T	-	2	0	MRPL28	359133	1.000000	0.71417	0.068000	0.19968	0.002000	0.02628	4.373000	0.59537	1.061000	0.40601	-0.136000	0.14681	ACT		0.547	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2			78	330	0	0	0	1	0	78	330				
C17orf67	339210	broad.mit.edu	37	17	54893177	54893177	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54893177C>A	ENST00000575658.1	-	5	1273	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C	C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C|C17orf67_ENST00000397861.2_De_novo_Start_OutOfFrame	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	23						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TTCATCCTGCCTTGGTTCCTC	0.507																																						ENST00000397861.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7								chromosome 17 open reading frame 67							87.0	92.0	91.0					17																	54893177		2130	4243	6373	SO:0001583	missense	339210					extracellular region		g.chr17:54893177C>A	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.67G>T	17.37:g.54893177C>A	ENSP00000461483:p.Gly23Cys					C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C|C17orf67_ENST00000575658.1_Missense_Mutation_p.G23C				Q0P5P2	CQ067_HUMAN			0	1274	-	Breast(9;2.49e-06)								Translation_Start_Site	SNP	ENST00000575658.1	37			.	.	.	.	.	.	.	.	.	.	C	6.632	0.485154	0.12641	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	3.37	2.39	0.29439	.	.	.	.	.	T	0.19805	0.0476	N	0.08118	0	0.20563	N	0.999885	D	0.58268	0.982	P	0.50490	0.642	T	0.05435	-1.0885	8	0.37606	T	0.19	-3.932	5.3929	0.16253	0.0:0.7225:0.0:0.2775	.	23	Q0P5P2	CQ067_HUMAN	C	23	.	ENSP00000380959:G23C	G	-	1	0	C17orf67	52248176	0.038000	0.19896	0.670000	0.29842	0.427000	0.31564	0.004000	0.13106	0.751000	0.32900	-0.271000	0.10264	GGC		0.507	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430		41	163	1	0	4.07013e-28	1	4.72867e-28	41	163				
PRUNE2	158471	broad.mit.edu	37	9	79323618	79323618	+	Missense_Mutation	SNP	G	G	A	rs560492060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79323618G>A	ENST00000376718.3	-	8	3695	c.3572C>T	c.(3571-3573)gCc>gTc	p.A1191V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A832V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1191					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCATCAGAGGCAGGGAGCTC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20948	0.0		0.0	False		,,,				2504	0.001					ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2494-2496)gCc>gTc		prune homolog 2 (Drosophila)							93.0	85.0	88.0					9																	79323618		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323618G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3572C>T	9.37:g.79323618G>A	ENSP00000365908:p.Ala1191Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1191V	p.A832V			Q8WUY3	PRUN2_HUMAN			8	3695	-			1191					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2495C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	3.673	-0.067125	0.07273	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.51574	0.7;0.71	6.08	0.994	0.19832	.	1.282690	0.05135	N	0.493283	T	0.35189	0.0923	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.31971	-0.9924	10	0.59425	D	0.04	-0.1287	5.8732	0.18814	0.3438:0.0:0.537:0.1192	.	1191	Q8WUY3	PRUN2_HUMAN	V	1191;832;1190	ENSP00000365908:A1191V;ENSP00000397425:A832V	ENSP00000365908:A1191V	A	-	2	0	PRUNE2	78513438	0.003000	0.15002	0.009000	0.14445	0.031000	0.12232	0.395000	0.20850	0.142000	0.18901	-0.150000	0.13652	GCC		0.498	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		66	308	0	0	0	1	0	66	308				
MAGI3	260425	broad.mit.edu	37	1	114215988	114215988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114215988C>T	ENST00000307546.9	+	19	3165	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	MAGI3_ENST00000369611.4_Silent_p.G1030G|MAGI3_ENST00000369617.4_Silent_p.G1055G|MAGI3_ENST00000369615.1_Silent_p.G1030G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1055					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGGGGCTTTGGATTCA	0.478																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3088-3090)ggC>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 3							77.0	85.0	82.0					1																	114215988		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215988C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3090C>T	1.37:g.114215988C>T						MAGI3_ENST00000369617.4_Silent_p.G1055G|MAGI3_ENST00000307546.9_Silent_p.G1030G|MAGI3_ENST00000369611.4_Silent_p.G1030G	p.G1030G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3152	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1055					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3090C>T	CCDS44196.1																																																																																				0.478	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		98	428	0	0	0	1	0	98	428				
OBSCN	84033	broad.mit.edu	37	1	228469832	228469832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228469832C>A	ENST00000422127.1	+	31	8440	c.8396C>A	c.(8395-8397)gCt>gAt	p.A2799D	OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3228D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2799	Ig-like 27.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCGGGAGGCTGCACCAAGT	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(9682-9684)gCt>gAt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							34.0	40.0	38.0					1																	228469832		2016	4176	6192	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228469832C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8396C>A	1.37:g.228469832C>A	ENSP00000409493:p.Ala2799Asp					OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2799D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.A3228D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			36	9757	+		Prostate(94;0.0405)	2262			Ig-like 32.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.9683C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741893	0.30865	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.71103	-0.54;-0.54;-0.54	4.45	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.192642	0.34676	N	0.003775	D	0.83339	0.5233	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.80764	0.993;0.885;0.994	T	0.82165	-0.0592	10	0.66056	D	0.02	.	7.9133	0.29803	0.0:0.645:0.0:0.355	.	2799;2799;2799	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	D	2799;2799;1646;498;205	ENSP00000284548:A2799D;ENSP00000409493:A2799D;ENSP00000352613:A1646D	ENSP00000284548:A2799D	A	+	2	0	OBSCN	226536455	0.951000	0.32395	0.003000	0.11579	0.004000	0.04260	1.801000	0.38843	0.428000	0.26173	0.462000	0.41574	GCT		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	144	1	0	4.36969e-10	1	4.6211e-10	14	144				
LILRA2	11027	broad.mit.edu	37	19	55086784	55086784	+	Missense_Mutation	SNP	C	C	A	rs561216122	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086784C>A	ENST00000251377.3	+	6	850	c.717C>A	c.(715-717)agC>agA	p.S239R	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	239	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCGGGGAGAGCCTGACCCTCC	0.577																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(715-717)agC>agA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							108.0	110.0	109.0					19																	55086784		2203	4300	6503	SO:0001583	missense	0							g.chr19:55086784C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.717C>A	19.37:g.55086784C>A	ENSP00000251377:p.Ser239Arg					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R	p.S239R						GBM - Glioblastoma multiforme(193;0.0963)	6	850	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.717C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	5.286	0.238185	0.10023	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59	2.11	-1.96	0.07525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.810500	0.03188	N	0.172960	T	0.01254	0.0041	L	0.48877	1.53	0.09310	N	1	B;B;B;B	0.22541	0.071;0.003;0.006;0.001	B;B;B;B	0.25759	0.063;0.014;0.014;0.005	T	0.47749	-0.9093	10	0.49607	T	0.09	.	3.4604	0.07531	0.0:0.5:0.2107:0.2894	.	239;227;239;239	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	239;239;239;239;227	ENSP00000388131:S239R;ENSP00000251377:S239R;ENSP00000375618:S239R;ENSP00000251376:S239R;ENSP00000375617:S227R	ENSP00000251376:S239R	S	+	3	2	LILRA2	59778596	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.865000	0.04250	-0.361000	0.08125	-1.294000	0.01345	AGC		0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			105	451	1	0	1.58909e-51	1	1.97261e-51	105	451				
ITGAE	3682	broad.mit.edu	37	17	3632827	3632827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3632827C>A	ENST00000263087.4	-	24	2955	c.2857G>T	c.(2857-2859)Gcc>Tcc	p.A953S	ITGAE_ENST00000571185.1_Intron|CTD-3195I5.4_ENST00000575043.1_RNA	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	953					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTCTCGTTGGCCAAAGACCGT	0.493																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2857-2859)Gcc>Tcc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							219.0	174.0	189.0					17																	3632827		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3632827C>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2857G>T	17.37:g.3632827C>A	ENSP00000263087:p.Ala953Ser					ITGAE_ENST00000571185.1_Intron|CTD-3195I5.4_ENST00000575043.1_RNA	p.A953S	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	24	2955	-			953					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2857G>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637074	0.14386	.	.	ENSG00000083457	ENST00000263087	T	0.43294	0.95	4.19	3.17	0.36434	Integrin alpha-2 (1);	.	.	.	.	T	0.28333	0.0700	L	0.36672	1.1	0.09310	N	1	P	0.47191	0.891	B	0.40199	0.322	T	0.05007	-1.0912	9	0.09338	T	0.73	.	9.5334	0.39207	0.2294:0.7706:0.0:0.0	.	953	P38570	ITAE_HUMAN	S	953	ENSP00000263087:A953S	ENSP00000263087:A953S	A	-	1	0	ITGAE	3579576	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.818000	0.27295	1.261000	0.44149	0.655000	0.94253	GCC		0.493	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		70	371	1	0	3.4779e-39	1	4.20191e-39	70	371				
MOGS	7841	broad.mit.edu	37	2	74691694	74691694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74691694T>C	ENST00000233616.4	-	2	670	c.508A>G	c.(508-510)Act>Gct	p.T170A	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A|MOGS_ENST00000535045.1_Intron	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	170					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACGAACTCAGTGGTGAGCCTT	0.627																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(508-510)Act>Gct		mannosyl-oligosaccharide glucosidase							66.0	73.0	70.0					2																	74691694		2008	4165	6173	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74691694T>C	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.508A>G	2.37:g.74691694T>C	ENSP00000233616:p.Thr170Ala					MOGS_ENST00000535045.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A	p.T170A	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			2	670	-			170					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.508A>G	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794219	0.90453	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000409065;ENST00000448666;ENST00000414701	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.82323	2.585	0.80722	D	1	P	0.48089	0.905	P	0.54401	0.751	T	0.64698	-0.6346	10	0.51188	T	0.08	-12.3794	13.3999	0.60876	0.0:0.0:0.0:1.0	.	170	Q13724	MOGS_HUMAN	A	170;64;170;64;51	ENSP00000233616:T170A;ENSP00000388201:T64A;ENSP00000386493:T170A;ENSP00000410992:T64A;ENSP00000396298:T51A	ENSP00000233616:T170A	T	-	1	0	MOGS	74545202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.711000	0.74675	2.254000	0.74563	0.533000	0.62120	ACT		0.627	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		88	467	0	0	0	1	0	88	467				
MUC16	94025	broad.mit.edu	37	19	9048837	9048837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048837C>A	ENST00000397910.4	-	5	32997	c.32794G>T	c.(32794-32796)Gga>Tga	p.G10932*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10934	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACCACTCCTGGTACCCCA	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32794-32796)Gga>Tga		mucin 16, cell surface associated							115.0	105.0	108.0					19																	9048837		1909	4118	6027	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048837C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32794G>T	19.37:g.9048837C>A	ENSP00000381008:p.Gly10932*						p.G10932*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32997	-			10934			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.32794G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	50.752531	0.99988	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.7	1.49	0.22878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.7297	0.18032	0.0:0.7426:0.0:0.2574	.	.	.	.	X	10932	.	ENSP00000381008:G10932X	G	-	1	0	MUC16	8909837	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.870000	0.04228	0.476000	0.27440	0.586000	0.80456	GGA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		115	449	1	0	8.98033e-41	1	1.08974e-40	115	449				
FREM2	341640	broad.mit.edu	37	13	39450468	39450468	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39450468C>T	ENST00000280481.7	+	20	8709	c.8493C>T	c.(8491-8493)acC>acT	p.T2831T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2831					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCAGTCACCTGCAACCCCA	0.483																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8491-8493)acC>acT		FRAS1 related extracellular matrix protein 2							125.0	105.0	112.0					13																	39450468		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39450468C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8493C>T	13.37:g.39450468C>T							p.T2831T	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	20	8709	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2831					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.8493C>T	CCDS31960.1																																																																																				0.483	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		74	333	0	0	0	1	0	74	333				
MAML3	55534	broad.mit.edu	37	4	140811481	140811481	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140811481G>T	ENST00000509479.2	-	2	1965	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGATCCCATGGAGACATGTGC	0.582																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1108-1110)tCc>tAc		mastermind-like 3 (Drosophila)							82.0	83.0	83.0					4																	140811481		1991	4177	6168	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811481G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1109C>A	4.37:g.140811481G>T	ENSP00000421180:p.Ser370Tyr					MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y	p.S370Y	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	1965	-	all_hematologic(180;0.162)		370						Missense_Mutation	SNP	ENST00000509479.2	37	c.1109C>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642178	0.47153	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.26223	1.75	5.05	5.05	0.67936	.	0.195581	0.43919	D	0.000515	T	0.27169	0.0666	L	0.42245	1.32	0.80722	D	1	P	0.44195	0.828	B	0.40101	0.319	T	0.06972	-1.0797	10	0.62326	D	0.03	.	18.4404	0.90665	0.0:0.0:1.0:0.0	.	370	Q96JK9	MAML3_HUMAN	Y	370;214	ENSP00000421180:S370Y	ENSP00000313316:S214Y	S	-	2	0	MAML3	141030931	1.000000	0.71417	0.945000	0.38365	0.714000	0.41099	6.123000	0.71614	2.318000	0.78349	0.650000	0.86243	TCC		0.582	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			88	366	1	0	2.43516e-34	1	2.89639e-34	88	366				
CNTRL	11064	broad.mit.edu	37	9	123904467	123904467	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123904467A>C	ENST00000373855.1	+	19	3050	c.2790A>C	c.(2788-2790)caA>caC	p.Q930H	CNTRL_ENST00000238341.5_Missense_Mutation_p.Q930H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q378H|CNTRL_ENST00000373847.1_Missense_Mutation_p.Q378H			Q7Z7A1	CNTRL_HUMAN	centriolin	930					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGGAAATCCAAGGCCTTACAG	0.393																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(2788-2790)caA>caC		centriolin							52.0	51.0	52.0					9																	123904467		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123904467A>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2790A>C	9.37:g.123904467A>C	ENSP00000362962:p.Gln930His					CNTRL_ENST00000373847.1_Missense_Mutation_p.Q378H|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q930H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q378H	p.Q930H			Q7Z7A1	CNTRL_HUMAN			19	3050	+			930					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.2790A>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787258	0.70337	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.61	4.49	0.54785	.	.	.	.	.	T	0.22589	0.0545	L	0.32530	0.975	0.34162	D	0.66879	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.17198	-1.0377	9	0.42905	T	0.14	.	7.5375	0.27719	0.852:0.0:0.148:0.0	.	930;930	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	H	930;930;930;412;378;378	ENSP00000362962:Q930H;ENSP00000238341:Q930H;ENSP00000362956:Q378H;ENSP00000362953:Q378H	ENSP00000238341:Q930H	Q	+	3	2	CNTRL	122944288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.549000	0.53681	2.140000	0.66376	0.533000	0.62120	CAA		0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		26	112	0	0	0	1	0	26	112				
UBE2E1	7324	broad.mit.edu	37	3	23932089	23932089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:23932089G>A	ENST00000306627.3	+	6	793	c.574G>A	c.(574-576)Gct>Act	p.A192T	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T|UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						CAAGAGATACGCTACATAAAT	0.453																																						ENST00000306627.3																			0				breast(1)|endometrium(2)|large_intestine(4)	7						c.(574-576)Gct>Act		ubiquitin-conjugating enzyme E2E 1							98.0	88.0	91.0					3																	23932089		2203	4300	6503	SO:0001583	missense	7324				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr3:23932089G>A	X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.574G>A	3.37:g.23932089G>A	ENSP00000303709:p.Ala192Thr					UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T|UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T	p.A192T	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN			6	793	+			192					B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	ENST00000306627.3	37	c.574G>A	CCDS2638.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707835	0.89018	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000424381;ENST00000452012	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.86	5.0	0.66597	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	D	0.91506	0.7318	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.94761	0.7936	10	0.87932	D	0	.	15.0642	0.71980	0.0678:0.0:0.9321:0.0	.	192	P51965	UB2E1_HUMAN	T	192;175;159;150	ENSP00000303709:A192T;ENSP00000329113:A175T;ENSP00000411351:A159T;ENSP00000393088:A150T	ENSP00000303709:A192T	A	+	1	0	UBE2E1	23907093	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.869000	0.99810	1.494000	0.48533	0.655000	0.94253	GCT		0.453	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	NM_003341		30	152	0	0	0	1	0	30	152				
DACT1	51339	broad.mit.edu	37	14	59105255	59105255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59105255G>A	ENST00000335867.4	+	1	359	c.335G>A	c.(334-336)aGa>aAa	p.R112K	DACT1_ENST00000541264.2_5'Flank|DACT1_ENST00000395153.3_Missense_Mutation_p.R112K|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000555845.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	112	Required for self-association. {ECO:0000250}.				dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTGCTGCTAAGAAAGCAATTG	0.677																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(334-336)aGa>aAa		dishevelled-binding antagonist of beta-catenin 1							30.0	32.0	31.0					14																	59105255		1973	4143	6116	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59105255G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.335G>A	14.37:g.59105255G>A	ENSP00000337439:p.Arg112Lys					DACT1_ENST00000395151.3_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000335867.4_Missense_Mutation_p.R112K	p.R112K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			1	482	+			112					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.335G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043459	0.07452	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.44482	0.92;0.92	3.3	3.3	0.37823	.	0.070956	0.49916	D	0.000127	T	0.22399	0.0540	L	0.31420	0.93	0.80722	D	1	B;B	0.31318	0.079;0.319	B;B	0.26416	0.039;0.069	T	0.08166	-1.0735	10	0.02654	T	1	-9.7086	8.7631	0.34687	0.107:0.0:0.893:0.0	.	112;112	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	112	ENSP00000378582:R112K;ENSP00000337439:R112K	ENSP00000337439:R112K	R	+	2	0	DACT1	58175008	1.000000	0.71417	0.999000	0.59377	0.197000	0.23852	4.141000	0.58038	1.673000	0.50895	0.313000	0.20887	AGA		0.677	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		16	94	0	0	0	1	0	16	94				
NHLRC3	387921	broad.mit.edu	37	13	39621894	39621894	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39621894G>T	ENST00000379600.3	+	7	1197	c.875G>T	c.(874-876)aGc>aTc	p.S292I	NHLRC3_ENST00000470258.1_Missense_Mutation_p.S95I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	292						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CCAGTGGGAAGCATTGGGGAG	0.483																																						ENST00000379600.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11						c.(874-876)aGc>aTc		NHL repeat containing 3							76.0	73.0	74.0					13																	39621894		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39621894G>T		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.875G>T	13.37:g.39621894G>T	ENSP00000368920:p.Ser292Ile					NHLRC3_ENST00000470258.1_Missense_Mutation_p.S95I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I	p.S292I	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	7	1197	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	292					B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.875G>T	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584687	0.13749	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	T;T;T	0.65364	-0.12;-0.15;-0.09	5.46	-1.72	0.08107	Six-bladed beta-propeller, TolB-like (1);	0.843236	0.11418	N	0.566115	T	0.44435	0.1293	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27625	0.183;0.138	B;B	0.24541	0.039;0.054	T	0.27054	-1.0085	9	.	.	.	-0.0242	1.6697	0.02809	0.3817:0.2268:0.277:0.1146	.	225;292	B4DTL0;Q5JS37	.;NHLC3_HUMAN	I	95;292;225	ENSP00000418127:S95I;ENSP00000368920:S292I;ENSP00000368919:S225I	.	S	+	2	0	NHLRC3	38519894	0.001000	0.12720	0.102000	0.21198	0.486000	0.33341	0.046000	0.14035	-0.188000	0.10499	0.563000	0.77884	AGC		0.483	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		38	189	1	0	9.45814e-24	1	1.07742e-23	38	189				
MVB12B	89853	broad.mit.edu	37	9	129154412	129154412	+	Silent	SNP	G	G	A	rs544965778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129154412G>A	ENST00000361171.3	+	5	558	c.477G>A	c.(475-477)gcG>gcA	p.A159A	MVB12B_ENST00000436593.3_Silent_p.A144A|MVB12B_ENST00000535766.1_Silent_p.A152A|MVB12B_ENST00000545391.1_Silent_p.A159A	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	159	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CGGAAGCTGCGATTTGTGACA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19579	0.0		0.0	False		,,,				2504	0.0					ENST00000361171.3																			0											c.(475-477)gcG>gcA		multivesicular body subunit 12B							127.0	135.0	132.0					9																	129154412		2203	4300	6503	SO:0001819	synonymous_variant	89853							g.chr9:129154412G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.477G>A	9.37:g.129154412G>A						MVB12B_ENST00000535766.1_Silent_p.A152A|MVB12B_ENST00000545391.1_Silent_p.A159A|MVB12B_ENST00000436593.3_Silent_p.A144A	p.A159A	NM_033446.2	NP_258257.1					5	558	+								Q8N6S7	Silent	SNP	ENST00000361171.3	37	c.477G>A	CCDS35142.1																																																																																				0.468	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		157	681	0	0	0	1	0	157	681				
ROS1	6098	broad.mit.edu	37	6	117704623	117704623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117704623C>T	ENST00000368508.3	-	16	2551	c.2353G>A	c.(2353-2355)Gtg>Atg	p.V785M	ROS1_ENST00000368507.3_Missense_Mutation_p.V780M|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	785					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATAGCTTCACGTGGGTAACA	0.418			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(2353-2355)Gtg>Atg		c-ros oncogene 1 , receptor tyrosine kinase							226.0	203.0	211.0					6																	117704623		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704623C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2353G>A	6.37:g.117704623C>T	ENSP00000357494:p.Val785Met					ROS1_ENST00000368507.3_Missense_Mutation_p.V780M|GOPC_ENST00000467125.1_Intron	p.V785M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2551	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	785					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2353G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524783	0.44969	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91577	-2.87;-2.87	4.57	3.68	0.42216	.	0.126462	0.35378	N	0.003247	D	0.87229	0.6125	N	0.19112	0.55	0.36010	D	0.837963	D	0.76494	0.999	D	0.65987	0.94	D	0.89157	0.3527	10	0.72032	D	0.01	.	11.0181	0.47701	0.0:0.9065:0.0:0.0935	.	785	P08922	ROS1_HUMAN	M	785;780	ENSP00000357494:V785M;ENSP00000357493:V780M	ENSP00000357493:V780M	V	-	1	0	ROS1	117811316	0.997000	0.39634	0.916000	0.36221	0.490000	0.33462	3.832000	0.55783	2.260000	0.74910	0.655000	0.94253	GTG		0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			141	723	0	0	0	1	0	141	723				
SSTR5	6755	broad.mit.edu	37	16	1129206	1129206	+	Missense_Mutation	SNP	G	G	A	rs200422161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129206G>A	ENST00000293897.4	+	1	426	c.338G>A	c.(337-339)cGc>cAc	p.R113H	SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H|SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	113					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.R113H(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTCCTGTGCCGCCTGGTCATG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15183	0.0		0.0	False		,,,				2504	0.0					ENST00000293897.4																			1	Substitution - Missense(1)	p.R113H(1)	endometrium(1)	endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(337-339)cGc>cAc		somatostatin receptor 5	Octreotide(DB00104)						56.0	50.0	52.0					16																	1129206		2194	4297	6491	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129206G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.338G>A	16.37:g.1129206G>A	ENSP00000293897:p.Arg113His					SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H|SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H	p.R113H	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	426	+		Hepatocellular(780;0.00369)	113					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.338G>A	CCDS10429.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.1	4.705785	0.89018	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.19532	2.14;2.14	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.069740	0.56097	D	0.000032	T	0.37972	0.1023	L	0.54863	1.705	0.48696	D	0.999693	D	0.60160	0.987	P	0.57846	0.828	T	0.17107	-1.0380	10	0.62326	D	0.03	.	16.9817	0.86329	0.0:0.0:1.0:0.0	.	113	P35346	SSR5_HUMAN	H	113	ENSP00000380680:R113H;ENSP00000293897:R113H	ENSP00000293897:R113H	R	+	2	0	SSTR5	1069207	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.360000	0.66086	2.260000	0.74910	0.561000	0.74099	CGC		0.652	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			29	305	0	0	0	1	0	29	305				
LETM1	3954	broad.mit.edu	37	4	1824770	1824770	+	Missense_Mutation	SNP	G	G	A	rs139115587	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1824770G>A	ENST00000302787.2	-	9	1717	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	474					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTGGATGGCCGCCTCCTCCTG	0.657													g|||	2	0.000399361	0.0	0.0	5008	,	,		17780	0.002		0.0	False		,,,				2504	0.0					ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1420-1422)gCg>gTg		leucine zipper-EF-hand containing transmembrane protein 1		G	VAL/ALA	0,4406		0,0,2203	75.0	70.0	72.0		1421	3.9	1.0	4	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LETM1	NM_012318.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	474/740	1824770	1,13005	2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1824770G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1421C>T	4.37:g.1824770G>A	ENSP00000305653:p.Ala474Val						p.A474V	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		9	1717	-			474					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1421C>T	CCDS3355.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.44	2.237076	0.39498	0.0	1.16E-4	ENSG00000168924	ENST00000302787	.	.	.	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	M	0.65498	2.005	0.53688	D	0.999977	D	0.67145	0.996	B	0.43251	0.413	T	0.58092	-0.7697	9	0.37606	T	0.19	-21.2189	13.297	0.60303	0.0:0.0:0.5072:0.4928	.	474	O95202	LETM1_HUMAN	V	474	.	ENSP00000305653:A474V	A	-	2	0	LETM1	1794568	0.283000	0.24277	0.997000	0.53966	0.836000	0.47400	0.929000	0.28844	0.916000	0.36871	0.491000	0.48974	GCG		0.657	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			115	418	0	0	0	1	0	115	418				
SZT2	23334	broad.mit.edu	37	1	43896456	43896456	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43896456C>T	ENST00000562955.1	+	31	4599	c.4599C>T	c.(4597-4599)tgC>tgT	p.C1533C	SZT2_ENST00000372442.1_Silent_p.C691C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1590					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCTACCTGCCTGGGTGAGT	0.592																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4597-4599)tgC>tgT		seizure threshold 2 homolog (mouse)							67.0	72.0	70.0					1																	43896456		2203	4299	6502	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43896456C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4599C>T	1.37:g.43896456C>T						SZT2_ENST00000372442.1_Silent_p.C691C	p.C1533C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			31	4599	+			1590					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.4599C>T	CCDS30694.2																																																																																				0.592	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		57	594	0	0	0	1	0	57	594				
RSPH9	221421	broad.mit.edu	37	6	43638647	43638647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43638647C>T	ENST00000372163.4	+	5	845	c.792C>T	c.(790-792)ggC>ggT	p.G264G	RSPH9_ENST00000372165.4_Missense_Mutation_p.H282Y	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	264					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTACGTGGGCACTGGCGAGA	0.532									Kartagener syndrome																													ENST00000372165.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(844-846)Cac>Tac		radial spoke head 9 homolog (Chlamydomonas)							93.0	72.0	79.0					6																	43638647		2203	4300	6503	SO:0001819	synonymous_variant	221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43638647C>T	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.792C>T	6.37:g.43638647C>T						RSPH9_ENST00000372163.4_Silent_p.G264G	p.H282Y	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN			6	897	+			0					A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	c.844C>T	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104727	0.77096	.	.	ENSG00000172426	ENST00000372165	.	.	.	5.97	5.11	0.69529	.	0.475237	0.26082	N	0.026444	T	0.42268	0.1195	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	T	0.49969	-0.8882	8	0.87932	D	0	-0.498	13.149	0.59478	0.0:0.9227:0.0:0.0773	.	282	Q96NH9	.	Y	282	.	ENSP00000361238:H282Y	H	+	1	0	RSPH9	43746625	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.430000	0.34914	1.536000	0.49237	0.655000	0.94253	CAC		0.532	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		56	223	0	0	0	1	0	56	223				
IL17RA	23765	broad.mit.edu	37	22	17586821	17586821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17586821T>C	ENST00000319363.6	+	11	1155	c.1022T>C	c.(1021-1023)gTc>gCc	p.V341A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	341					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTGCTCATCGTCTGCATGACC	0.587																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1021-1023)gTc>gCc		interleukin 17 receptor A							94.0	73.0	80.0					22																	17586821		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17586821T>C	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1022T>C	22.37:g.17586821T>C	ENSP00000320936:p.Val341Ala						p.V341A	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	11	1155	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	341					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1022T>C	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818552	0.32145	.	.	ENSG00000177663	ENST00000319363	T	0.06528	3.29	5.21	5.21	0.72293	.	1.277380	0.05326	N	0.527439	T	0.11793	0.0287	M	0.64997	1.995	0.23978	N	0.996285	B	0.34015	0.435	B	0.30401	0.115	T	0.36311	-0.9753	10	0.59425	D	0.04	-5.4492	12.8275	0.57728	0.0:0.0:0.0:1.0	.	341	Q96F46	I17RA_HUMAN	A	341	ENSP00000320936:V341A	ENSP00000320936:V341A	V	+	2	0	IL17RA	15966821	0.986000	0.35501	0.842000	0.33263	0.137000	0.21094	3.177000	0.50871	1.971000	0.57363	0.459000	0.35465	GTC		0.587	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		20	166	0	0	0	1	0	20	166				
ANKRD11	29123	broad.mit.edu	37	16	89348524	89348524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348524G>A	ENST00000301030.4	-	9	4886	c.4426C>T	c.(4426-4428)Cac>Tac	p.H1476Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1476	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTCCCGGTGCctctccttc	0.552																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4426-4428)Cac>Tac		ankyrin repeat domain 11							101.0	60.0	74.0					16																	89348524		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348524G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4426C>T	16.37:g.89348524G>A	ENSP00000301030:p.His1476Tyr					ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4886	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1476			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4426C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397951	0.25205	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	5.11	5.11	0.69529	.	0.312185	0.31847	N	0.006979	T	0.36690	0.0976	L	0.55103	1.725	0.80722	D	1	P	0.45283	0.855	B	0.37650	0.255	T	0.40251	-0.9573	10	0.62326	D	0.03	.	18.4974	0.90870	0.0:0.0:1.0:0.0	.	1476	Q6UB99	ANR11_HUMAN	Y	1476	ENSP00000301030:H1476Y;ENSP00000367581:H1476Y	ENSP00000301030:H1476Y	H	-	1	0	ANKRD11	87876025	1.000000	0.71417	0.143000	0.22291	0.004000	0.04260	5.766000	0.68843	2.530000	0.85305	0.563000	0.77884	CAC		0.552	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		60	236	0	0	0	1	0	60	236				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		28	510	0	0	0	1	0	28	510				
SNHG14	104472715	broad.mit.edu	37	15	25423768	25423768	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25423768G>T	ENST00000441592.2	+	0	339				SNORD115-5_ENST00000363633.1_RNA|SNORD115-4_ENST00000363810.1_RNA|SNORD115-6_ENST00000363942.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CAGGTGCCCAGCCCTTGGTGC	0.622																																						ENST00000441592.2																			0																																																			0							g.chr15:25423768G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25423768G>T														0	339	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.622	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			77	321	1	0	3.58576e-35	1	4.27743e-35	77	321				
GTPBP3	84705	broad.mit.edu	37	19	17449816	17449816	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17449816G>A	ENST00000324894.8	+	5	713	c.645G>A	c.(643-645)gaG>gaA	p.E215E	GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000361619.5_Silent_p.E237E|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	215					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACAACCTGGAGGAGGGGGTCC	0.622																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(643-645)gaG>gaA		GTP binding protein 3 (mitochondrial)							74.0	69.0	71.0					19																	17449816		2203	4300	6503	SO:0001819	synonymous_variant	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17449816G>A	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.645G>A	19.37:g.17449816G>A						GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Silent_p.E237E	p.E215E	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			5	713	+			215					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	c.645G>A	CCDS32951.1																																																																																				0.622	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		75	345	0	0	0	1	0	75	345				
DOPEY2	9980	broad.mit.edu	37	21	37617678	37617678	+	Missense_Mutation	SNP	G	G	A	rs573603717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617678G>A	ENST00000399151.3	+	19	3485	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1134					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTCCCACGACCTGCAGGA	0.662																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3400-3402)Gac>Aac		dopey family member 2							124.0	85.0	98.0					21																	37617678		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617678G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3400G>A	21.37:g.37617678G>A	ENSP00000382104:p.Asp1134Asn						p.D1134N	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3485	+			1134					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3400G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432271	0.43122	.	.	ENSG00000142197	ENST00000399151	T	0.28666	1.6	5.55	2.74	0.32292	.	0.476618	0.26227	N	0.025593	T	0.25938	0.0632	L	0.50333	1.59	0.35569	D	0.805348	B;B	0.20550	0.046;0.027	B;B	0.11329	0.006;0.003	T	0.16867	-1.0388	10	0.59425	D	0.04	.	8.2768	0.31877	0.1344:0.0:0.7372:0.1284	.	1134;1134	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	1134	ENSP00000382104:D1134N	ENSP00000382104:D1134N	D	+	1	0	DOPEY2	36539548	0.998000	0.40836	0.432000	0.26747	0.858000	0.48976	2.887000	0.48586	0.385000	0.24970	0.650000	0.86243	GAC		0.662	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		86	304	0	0	0	1	0	86	304				
DAB2IP	153090	broad.mit.edu	37	9	124522508	124522508	+	Silent	SNP	C	C	T	rs570908203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124522508C>T	ENST00000408936.3	+	6	1142	c.960C>T	c.(958-960)ggC>ggT	p.G320G	DAB2IP_ENST00000309989.1_Silent_p.G196G|DAB2IP_ENST00000259371.2_Silent_p.G292G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	320					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCCCAAGGGCGGCAAGGGCC	0.622																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(958-960)ggC>ggT		DAB2 interacting protein							74.0	60.0	65.0					9																	124522508		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522508C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.960C>T	9.37:g.124522508C>T						DAB2IP_ENST00000309989.1_Silent_p.G196G|DAB2IP_ENST00000259371.2_Silent_p.G292G	p.G320G			Q5VWQ8	DAB2P_HUMAN			6	1142	+			320					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.960C>T																																																																																					0.622	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		38	212	0	0	0	1	0	38	212				
PCDH8	5100	broad.mit.edu	37	13	53422137	53422137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422137G>A	ENST00000377942.3	-	1	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_ENST00000338862.4_Silent_p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S145S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGCACCCTCGGACACCTCTA	0.711																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			1	Substitution - coding silent(1)	p.S145S(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(433-435)tcC>tcT		protocadherin 8							28.0	28.0	28.0					13																	53422137		2193	4292	6485	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422137G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.435C>T	13.37:g.53422137G>A						PCDH8_ENST00000338862.4_Silent_p.S145S	p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	638	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	145			Cadherin 2.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.435C>T	CCDS9438.1																																																																																				0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		44	194	0	0	0	1	0	44	194				
ITGB6	3694	broad.mit.edu	37	2	161029111	161029111	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161029111C>A	ENST00000283249.2	-	6	1127	c.890G>T	c.(889-891)aGc>aTc	p.S297I	ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	297	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCATTCTTGCTGTCCAAGTG	0.448																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(889-891)aGc>aTc		integrin, beta 6							154.0	139.0	144.0					2																	161029111		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161029111C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.890G>T	2.37:g.161029111C>A	ENSP00000283249:p.Ser297Ile					ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I|ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I	p.S297I			P18564	ITB6_HUMAN			6	1127	-			297			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.890G>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566658	0.45694	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56	5.49	2.16	0.27623	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.596265	0.20136	N	0.098493	D	0.95714	0.8606	L	0.58101	1.795	0.24406	N	0.994683	P;P	0.42337	0.776;0.776	B;B	0.41813	0.367;0.257	D	0.90379	0.4386	10	0.52906	T	0.07	.	8.6805	0.34205	0.0:0.5591:0.0:0.4409	.	255;297	E9PEE8;P18564	.;ITB6_HUMAN	I	297;255;297;297	ENSP00000283249:S297I;ENSP00000408024:S255I;ENSP00000386828:S297I;ENSP00000386367:S297I	ENSP00000283249:S297I	S	-	2	0	ITGB6	160737357	0.967000	0.33354	1.000000	0.80357	0.999000	0.98932	0.172000	0.16704	0.181000	0.19994	0.655000	0.94253	AGC		0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		18	658	1	0	1.33834e-09	1	1.40959e-09	18	658				
IQCB1	9657	broad.mit.edu	37	3	121509063	121509063	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121509063C>A	ENST00000310864.6	-	11	1201		c.e11-1		IQCB1_ENST00000349820.6_Splice_Site	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1						cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCGTTTGGATCTGTGATGGAA	0.318																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.e11-1		IQ motif containing B1							195.0	184.0	188.0					3																	121509063		2203	4300	6503	SO:0001630	splice_region_variant	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121509063C>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.987-1G>T	3.37:g.121509063C>A						IQCB1_ENST00000349820.6_Splice_Site		NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	11	1201	-								Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Splice_Site	SNP	ENST00000310864.6	37		CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667687	0.47677	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0225	0.64565	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQCB1	122991753	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.337000	0.52120	2.757000	0.94681	0.650000	0.86243	.		0.318	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	Intron	148	666	1	0	3.45299e-71	1	4.38936e-71	148	666				
TMEM132E	124842	broad.mit.edu	37	17	32956037	32956037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32956037C>T	ENST00000321639.5	+	5	1210	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	294						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCAGGGAGGGCCAGGGCCCCT	0.612																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(880-882)ggC>ggT		transmembrane protein 132E							69.0	73.0	72.0					17																	32956037		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32956037C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.882C>T	17.37:g.32956037C>T							p.G294G	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1210	+			294					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.882C>T	CCDS11283.1																																																																																				0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		39	594	0	0	0	1	0	39	594				
TXNRD2	10587	broad.mit.edu	37	22	19870891	19870891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19870891G>A	ENST00000400521.1	-	12	1049	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000535882.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	348					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CACAGAGGTGGCTTCCCGGGA	0.627																																						ENST00000535882.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1039-1041)gCc>gTc		thioredoxin reductase 2							106.0	123.0	118.0					22																	19870891		2042	4195	6237	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19870891G>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1043C>T	22.37:g.19870891G>A	ENSP00000383365:p.Ala348Val					TXNRD2_ENST00000400525.1_Missense_Mutation_p.A325V|TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000400521.1_Missense_Mutation_p.A348V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V	p.A347V			Q9NNW7	TRXR2_HUMAN			12	1039	-	Colorectal(54;0.0993)		348					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1040C>T	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586106	0.28268	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.07	4.06	0.47325	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.538685	0.19402	N	0.115146	T	0.42877	0.1222	L	0.45422	1.42	0.80722	D	1	P;P	0.44090	0.826;0.826	B;B	0.37091	0.241;0.241	T	0.41431	-0.9509	10	0.56958	D	0.05	-20.6423	18.7819	0.91937	0.0:0.1189:0.881:0.0	.	348;347	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	V	318;348;348;325;252;347;347;318	ENSP00000383362:A318V;ENSP00000383365:A348V;ENSP00000383369:A325V;ENSP00000383363:A347V;ENSP00000439314:A347V;ENSP00000439570:A318V	ENSP00000383362:A318V	A	-	2	0	TXNRD2	18250891	1.000000	0.71417	0.637000	0.29366	0.091000	0.18340	3.776000	0.55356	0.652000	0.30806	-1.255000	0.01485	GCC		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		134	488	0	0	0	1	0	134	488				
OAS3	4940	broad.mit.edu	37	12	113405976	113405976	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113405976C>T	ENST00000228928.7	+	14	3280	c.3101C>T	c.(3100-3102)cCc>cTc	p.P1034L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1034	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTCAGAAGCCCAGGTTCAGG	0.502																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(3100-3102)cCc>cTc		2'-5'-oligoadenylate synthetase 3, 100kDa							34.0	34.0	34.0					12																	113405976		1913	4123	6036	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113405976C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3101C>T	12.37:g.113405976C>T	ENSP00000228928:p.Pro1034Leu					RP1-71H24.1_ENST00000552784.1_RNA	p.P1034L	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			14	3280	+			1034			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.3101C>T	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273682	0.40194	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.43688	0.94	4.88	3.99	0.46301	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.48732	0.1516	M	0.82517	2.595	0.80722	D	1	P	0.50617	0.937	P	0.45428	0.48	T	0.55823	-0.8080	9	0.66056	D	0.02	.	8.9477	0.35769	0.0:0.899:0.0:0.101	.	1034	Q9Y6K5	OAS3_HUMAN	L	1034;1033	ENSP00000228928:P1034L	ENSP00000228928:P1034L	P	+	2	0	OAS3	111890359	0.807000	0.29009	0.936000	0.37596	0.082000	0.17680	1.627000	0.37050	1.270000	0.44297	-0.136000	0.14681	CCC		0.502	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			43	112	0	0	0	1	0	43	112				
FAM47B	170062	broad.mit.edu	37	X	34961432	34961432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961432G>A	ENST00000329357.5	+	1	520	c.484G>A	c.(484-486)Gct>Act	p.A162T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	162										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCTGGAGGACGCTTGGGCTCG	0.587																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(484-486)Gct>Act		family with sequence similarity 47, member B							47.0	42.0	44.0					X																	34961432		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961432G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.484G>A	X.37:g.34961432G>A	ENSP00000328307:p.Ala162Thr						p.A162T	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	520	+			162					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.484G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.570869	0.00133	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	-1.69	0.08186	.	.	.	.	.	T	0.08403	0.0209	N	0.17922	0.545	0.09310	N	1	B	0.18741	0.03	B	0.16722	0.016	T	0.38499	-0.9658	9	0.02654	T	1	.	2.5263	0.04692	0.3189:0.0:0.4299:0.2512	.	162	Q8NA70	FA47B_HUMAN	T	162	ENSP00000328307:A162T	ENSP00000328307:A162T	A	+	1	0	FAM47B	34871353	0.008000	0.16893	0.007000	0.13788	0.001000	0.01503	-0.704000	0.05058	-1.178000	0.02741	-1.891000	0.00535	GCT		0.587	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		54	189	0	0	0	1	0	54	189				
TIAM1	7074	broad.mit.edu	37	21	32624336	32624336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32624336G>A	ENST00000286827.3	-	6	1604	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	378					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGACGAGCCGCATCCCCGGT	0.662																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(1132-1134)gCg>gTg		T-cell lymphoma invasion and metastasis 1							62.0	69.0	67.0					21																	32624336		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32624336G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1133C>T	21.37:g.32624336G>A	ENSP00000286827:p.Ala378Val					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V	p.A378V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			6	1604	-			378					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1133C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465025	0.43839	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40476	1.03;1.03	4.86	4.86	0.63082	.	0.246207	0.40469	N	0.001093	T	0.23846	0.0577	N	0.17082	0.46	0.36777	D	0.884119	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.001	T	0.17107	-1.0380	10	0.26408	T	0.33	.	7.4756	0.27374	0.0909:0.2254:0.6837:0.0	.	378;378;378	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	378;219;378	ENSP00000286827:A378V;ENSP00000441570:A378V	ENSP00000286827:A378V	A	-	2	0	TIAM1	31546207	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	3.223000	0.51231	2.497000	0.84241	0.655000	0.94253	GCG		0.662	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		63	562	0	0	0	1	0	63	562				
TMBIM4	51643	broad.mit.edu	37	12	66547187	66547187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66547187G>A	ENST00000358230.3	-	2	259	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	47					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GTAGTTAAGAGAACCTGCAGA	0.308																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(139-141)Ctc>Ttc		transmembrane BAX inhibitor motif containing 4							80.0	76.0	77.0					12																	66547187		1820	4062	5882	SO:0001583	missense	51643					integral to membrane	protein binding	g.chr12:66547187G>A	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.139C>T	12.37:g.66547187G>A	ENSP00000350965:p.Leu47Phe					TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F	p.L47F	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	2	259	-			47					Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	37	c.139C>T	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302088	0.40694	.	.	ENSG00000155957	ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T;T	0.54279	0.72;0.72;0.72;0.72;0.58	5.46	5.46	0.80206	.	0.064425	0.64402	D	0.000009	T	0.54727	0.1876	L	0.61387	1.9	0.52099	D	0.999947	P;B;P;B;B	0.35844	0.524;0.185;0.524;0.087;0.179	B;B;B;B;B	0.42112	0.376;0.14;0.376;0.063;0.33	T	0.53034	-0.8495	9	.	.	.	-14.5531	12.2315	0.54490	0.0821:0.0:0.9179:0.0	.	47;94;47;16;47	E7EWY5;G3XAA5;E7EQ00;G3V1M2;Q9HC24	.;.;.;.;TMBI4_HUMAN	F	47;47;47;94;47;47;93;16	ENSP00000451688:L47F;ENSP00000350965:L47F;ENSP00000286424:L94F;ENSP00000381114:L47F;ENSP00000441291:L16F	.	L	-	1	0	TMBIM4	64833454	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	2.312000	0.43726	2.548000	0.85928	0.655000	0.94253	CTC		0.308	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		43	231	0	0	0	1	0	43	231				
RANBP3L	202151	broad.mit.edu	37	5	36255604	36255604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36255604C>A	ENST00000296604.3	-	11	1477	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	331	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAGTCAGTGCTTGCTGTGTC	0.363																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(991-993)aGc>aTc		RAN binding protein 3-like							211.0	170.0	184.0					5																	36255604		2203	4299	6502	SO:0001583	missense	202151				intracellular transport			g.chr5:36255604C>A	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.992G>T	5.37:g.36255604C>A	ENSP00000296604:p.Ser331Ile					RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	p.S331I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		11	1477	-	all_lung(31;4.52e-05)		331			RanBD1.		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.992G>T	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641773	0.67244	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.44083	0.93;0.93	5.87	3.89	0.44902	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.454909	0.24345	N	0.039337	T	0.60196	0.2250	M	0.77313	2.365	0.39277	D	0.964496	D;D	0.61080	0.984;0.989	D;D	0.68943	0.961;0.919	T	0.65483	-0.6157	10	0.87932	D	0	-0.023	8.1223	0.30978	0.0:0.7124:0.1307:0.1569	.	356;331	E9PGP9;Q86VV4	.;RNB3L_HUMAN	I	331;356	ENSP00000296604:S331I;ENSP00000421853:S356I	ENSP00000296604:S331I	S	-	2	0	RANBP3L	36291361	0.827000	0.29292	0.990000	0.47175	0.982000	0.71751	1.325000	0.33724	1.463000	0.47967	0.655000	0.94253	AGC		0.363	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		59	428	1	0	7.92265e-33	1	9.37054e-33	59	428				
WSCD2	9671	broad.mit.edu	37	12	108626655	108626655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108626655G>A	ENST00000332082.4	+	8	1945	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D|WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D|WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	376						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACTTCGATGGCTCCCTCTAC	0.577																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1126-1128)gGc>gAc		WSC domain containing 2							47.0	46.0	46.0					12																	108626655		2067	4218	6285	SO:0001583	missense	9671					integral to membrane		g.chr12:108626655G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1127G>A	12.37:g.108626655G>A	ENSP00000331933:p.Gly376Asp					WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D|WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D|WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D	p.G376D			Q2TBF2	WSCD2_HUMAN			8	1945	+			376					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.1127G>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764889	0.90020	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30981	1.51;4.64;1.51;4.64	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.977;0.998	T	0.54029	-0.8354	10	0.56958	D	0.05	-32.4055	17.703	0.88301	0.0:0.0:1.0:0.0	.	376;376	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	D	376	ENSP00000448047:G376D;ENSP00000261400:G376D;ENSP00000331933:G376D;ENSP00000447272:G376D	ENSP00000261400:G376D	G	+	2	0	WSCD2	107150785	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	9.263000	0.95617	2.644000	0.89710	0.563000	0.77884	GGC		0.577	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		42	186	0	0	0	1	0	42	186				
KALRN	8997	broad.mit.edu	37	3	124211723	124211723	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124211723G>T	ENST00000240874.3	+	32	4977	c.4820G>T	c.(4819-4821)aGt>aTt	p.S1607I	KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I|KALRN_ENST00000360013.3_Missense_Mutation_p.S1607I	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1607					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACAATAGTAAGAGGTAA	0.507																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4819-4821)aGt>aTt		kalirin, RhoGEF kinase							100.0	110.0	107.0					3																	124211723		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124211723G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4820G>T	3.37:g.124211723G>T	ENSP00000240874:p.Ser1607Ile					KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I|KALRN_ENST00000240874.3_Missense_Mutation_p.S1607I	p.S1607I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			32	4947	+			1607					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4820G>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.680189|2.680189	0.47886|0.47886	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.22945|.	1.93;1.93;1.93|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Pleckstrin homology-type (1);|.	0.049843|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;P|.	0.46512|.	0.042;0.421;0.879|.	B;B;B|.	0.43103|.	0.016;0.079;0.408|.	T|T	0.50857|0.50857	-0.8778|-0.8778	10|5	0.49607|.	T|.	0.09|.	.|.	19.6941|19.6941	0.96016|0.96016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1598;1607;1607|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	I|L	1598;1607;1607|1576	ENSP00000418611:S1598I;ENSP00000240874:S1607I;ENSP00000353109:S1607I|.	ENSP00000240874:S1607I|.	S|V	+|+	2|1	0|0	KALRN|KALRN	125694413|125694413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.087000|5.087000	0.64480|0.64480	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		68	254	1	0	2.05175e-36	1	2.45602e-36	68	254				
OVCH2	341277	broad.mit.edu	37	11	7721940	7721940	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7721940G>T	ENST00000534193.2	-	0	830				OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TGTTTCTCCAGCCTCGACCAC	0.517																																						ENST00000454689.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15								ovochymase 2 (gene/pseudogene)							83.0	80.0	81.0					11																	7721940		1980	4158	6138			341277							g.chr11:7721940G>T	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7721940G>T						OVCH2_ENST00000534193.1_RNA		NM_198185.3	NP_937828.3				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	0	803	-									RNA	SNP	ENST00000534193.2	37																																																																																						0.517	OVCH2-001	KNOWN	non_canonical_polymorphism|not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000383929.7	NM_198185		15	104	1	0	2.31682e-05	1	2.36778e-05	15	104				
OR11H12	440153	broad.mit.edu	37	14	19377733	19377733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19377733C>T	ENST00000550708.1	+	1	212	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTCTTTACTACAACATAT	0.423																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(139-141)aCt>aTt		olfactory receptor, family 11, subfamily H, member 12							57.0	63.0	61.0					14																	19377733		2192	4293	6485	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377733C>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.140C>T	14.37:g.19377733C>T	ENSP00000449002:p.Thr47Ile						p.T47I	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	212	+	all_cancers(95;0.00108)		47						Missense_Mutation	SNP	ENST00000550708.1	37	c.140C>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	4.775	0.144168	0.09134	.	.	ENSG00000257115	ENST00000550708	T	0.00569	6.52	.	.	.	.	0.818440	0.10176	N	0.706451	T	0.00384	0.0012	N	0.20483	0.58	0.24248	N	0.995334	B	0.20261	0.043	B	0.15484	0.013	T	0.43686	-0.9376	8	0.66056	D	0.02	.	2.8235	0.05479	0.0:0.591:0.0:0.409	.	47	B2RN74	O11HC_HUMAN	I	47	ENSP00000449002:T47I	ENSP00000449002:T47I	T	+	2	0	CR383656.1	18447733	0.000000	0.05858	0.814000	0.32528	0.065000	0.16274	-0.124000	0.10595	0.413000	0.25759	0.064000	0.15345	ACT		0.423	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		54	451	0	0	0	1	0	54	451				
TTN	7273	broad.mit.edu	37	2	179433050	179433050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433050C>T	ENST00000591111.1	-	276	73110	c.72886G>A	c.(72886-72888)Gta>Ata	p.V24296I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25937I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24296	Fibronectin type-III 76. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ACATCCCATACTGTGGTGGTT	0.393																																						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.(77809-77811)Gta>Ata		titin							94.0	90.0	92.0					2																	179433050		1875	4103	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433050C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72886G>A	2.37:g.179433050C>T	ENSP00000465570:p.Val24296Ile					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24296I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.V25937I	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)		326	78033	-			24296			Fibronectin type-III 89.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.77809G>A		.	.	.	.	.	.	.	.	.	.	C	10.41	1.341799	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.64	2.59	0.31030	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41926	0.1180	L	0.33485	1.01	0.25217	N	0.989934	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	T	0.42766	-0.9432	9	0.87932	D	0	.	10.9367	0.47249	0.0:0.6307:0.2998:0.0695	.	16872;16997;17064;24296	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23369;16872;17064;16997;16870	ENSP00000343764:V23369I;ENSP00000434586:V16872I;ENSP00000340554:V17064I;ENSP00000352154:V16997I	ENSP00000340554:V17064I	V	-	1	0	TTN	179141296	0.690000	0.27699	1.000000	0.80357	0.987000	0.75469	1.222000	0.32515	1.356000	0.45884	0.655000	0.94253	GTA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		66	209	0	0	0	1	0	66	209				
MYCBP2	23077	broad.mit.edu	37	13	77625140	77625140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77625140C>T	ENST00000544440.2	-	82	13816	c.13799G>A	c.(13798-13800)tGt>tAt	p.C4600Y	MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.C4638Y					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)		ACCTGCAGGACAGTGTGGTAG	0.318																																						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.(13912-13914)tGt>tAt		MYC binding protein 2, E3 ubiquitin protein ligase							76.0	75.0	75.0					13																	77625140		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77625140C>T	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.13799G>A	13.37:g.77625140C>T	ENSP00000444596:p.Cys4600Tyr					MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y|MYCBP2_ENST00000544440.2_Missense_Mutation_p.C4600Y	p.C4638Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	82	14179	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4600						Missense_Mutation	SNP	ENST00000544440.2	37	c.13913G>A		.	.	.	.	.	.	.	.	.	.	C	22.4	4.286163	0.80803	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.62105	0.05;0.05;0.05	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.89287	3.02	0.80722	D	1	D	0.57571	0.98	D	0.71656	0.974	D	0.85873	0.1417	10	0.87932	D	0	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	4600	O75592	MYCB2_HUMAN	Y	4600;4638;4600	ENSP00000349892:C4600Y;ENSP00000384288:C4638Y;ENSP00000444596:C4600Y	ENSP00000349892:C4600Y	C	-	2	0	MYCBP2	76523141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.627000	0.88993	0.655000	0.94253	TGT		0.318	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		35	255	0	0	0	1	0	35	255				
EEPD1	80820	broad.mit.edu	37	7	36324351	36324351	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36324351C>T	ENST00000242108.4	+	5	1816	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	EEPD1_ENST00000534978.1_Silent_p.D366D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	366					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGCTGAGAGACGCGGGTTCAC	0.657																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(1096-1098)gaC>gaT		endonuclease/exonuclease/phosphatase family domain containing 1							69.0	78.0	75.0					7																	36324351		2203	4300	6503	SO:0001819	synonymous_variant	80820				DNA repair		DNA binding	g.chr7:36324351C>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1098C>T	7.37:g.36324351C>T						EEPD1_ENST00000534978.1_Silent_p.D366D	p.D366D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			5	1816	+			366					Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	37	c.1098C>T	CCDS34619.1																																																																																				0.657	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		158	652	0	0	0	1	0	158	652				
STRN3	29966	broad.mit.edu	37	14	31374730	31374730	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31374730G>T	ENST00000357479.5	-	15	2119	c.1923C>A	c.(1921-1923)ggC>ggA	p.G641G	STRN3_ENST00000355683.5_Silent_p.G557G	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	641					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGATCACAGCCTATAAAGT	0.358																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1669-1671)ggC>ggA		striatin, calmodulin binding protein 3							109.0	100.0	103.0					14																	31374730		2203	4299	6502	SO:0001819	synonymous_variant	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31374730G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1923C>A	14.37:g.31374730G>T						STRN3_ENST00000357479.5_Silent_p.G641G	p.G557G	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	13	1886	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		641					A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	ENST00000357479.5	37	c.1671C>A	CCDS41938.1																																																																																				0.358	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		60	222	1	0	1.08141e-31	1	1.27425e-31	60	222				
SLC10A6	345274	broad.mit.edu	37	4	87752952	87752952	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87752952A>C	ENST00000273905.6	-	3	725	c.578T>G	c.(577-579)aTt>aGt	p.I193S	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	193					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CACCTTGAGAATGATTTTGGA	0.473																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(577-579)aTt>aGt		solute carrier family 10 (sodium/bile acid cotransporter), member 6							128.0	98.0	108.0					4																	87752952		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87752952A>C	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.578T>G	4.37:g.87752952A>C	ENSP00000273905:p.Ile193Ser					SLC10A6_ENST00000505535.1_5'UTR	p.I193S	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	3	725	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	193					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.578T>G	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406940	0.62399	.	.	ENSG00000145283	ENST00000273905	T	0.11821	2.74	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000008	T	0.35799	0.0944	M	0.75264	2.295	0.36869	D	0.888834	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.87932	D	0	-18.9054	11.2388	0.48958	1.0:0.0:0.0:0.0	.	193	Q3KNW5	SOAT_HUMAN	S	193	ENSP00000273905:I193S	ENSP00000273905:I193S	I	-	2	0	SLC10A6	87971976	1.000000	0.71417	0.994000	0.49952	0.845000	0.48019	6.311000	0.72835	1.958000	0.56883	0.533000	0.62120	ATT		0.473	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		21	101	0	0	0	1	0	21	101				
CC2D1B	200014	broad.mit.edu	37	1	52824952	52824952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824952C>T	ENST00000371586.2	-	10	1234	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CC2D1B_ENST00000438831.1_De_novo_Start_InFrame|CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	366						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGGGCCATCACTGGCTGCACT	0.652																																						ENST00000371586.2																			0				breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1096-1098)Gtg>Atg		coiled-coil and C2 domain containing 1B							39.0	43.0	41.0					1																	52824952		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52824952C>T	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1096G>A	1.37:g.52824952C>T	ENSP00000360642:p.Val366Met					CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_De_novo_Start_InFrame	p.V366M	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			10	1234	-			366					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1096G>A	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534462	0.45073	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.26518	1.73;1.73	4.3	3.38	0.38709	.	0.357869	0.22207	N	0.063158	T	0.24851	0.0603	L	0.55481	1.735	0.80722	D	1	B;B	0.32968	0.392;0.392	B;B	0.34779	0.157;0.189	T	0.04708	-1.0932	10	0.45353	T	0.12	-5.1845	9.661	0.39954	0.2081:0.7919:0.0:0.0	.	152;366	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	M	366;366;280	ENSP00000360642:V366M;ENSP00000284376:V366M	ENSP00000284376:V366M	V	-	1	0	CC2D1B	52597540	0.989000	0.36119	1.000000	0.80357	0.965000	0.64279	1.850000	0.39328	1.153000	0.42468	0.650000	0.86243	GTG		0.652	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		72	224	0	0	0	1	0	72	224				
ZZEF1	23140	broad.mit.edu	37	17	3912991	3912991	+	Silent	SNP	G	G	A	rs373997187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3912991G>A	ENST00000381638.2	-	53	8764	c.8640C>T	c.(8638-8640)taC>taT	p.Y2880Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2880							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAAACAGGCCGTACTCCATGT	0.612																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8638-8640)taC>taT		zinc finger, ZZ-type with EF-hand domain 1		G		0,4406		0,0,2203	87.0	72.0	77.0		8640	0.2	1.0	17		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZZEF1	NM_015113.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2880/2962	3912991	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3912991G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8640C>T	17.37:g.3912991G>A							p.Y2880Y	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			53	8764	-			2880					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.8640C>T	CCDS11043.1																																																																																				0.612	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		47	173	0	0	0	1	0	47	173				
UBA7	7318	broad.mit.edu	37	3	49847012	49847012	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847012C>A	ENST00000333486.3	-	16	2209	c.2051G>T	c.(2050-2052)gGc>gTc	p.G684V	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	684					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGTTTGATGCCATAATGAAA	0.567																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2050-2052)gGc>gTc		ubiquitin-like modifier activating enzyme 7							129.0	133.0	131.0					3																	49847012		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847012C>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2051G>T	3.37:g.49847012C>A	ENSP00000333266:p.Gly684Val						p.G684V	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	16	2209	-			684					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2051G>T	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984739	0.35036	.	.	ENSG00000182179	ENST00000333486	T	0.62788	-0.0	5.92	4.0	0.46444	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.745824	0.14247	N	0.331665	T	0.52008	0.1708	L	0.50333	1.59	0.46279	D	0.998968	B	0.19706	0.038	B	0.23275	0.045	T	0.42310	-0.9459	10	0.31617	T	0.26	-2.5993	4.8671	0.13613	0.0:0.5587:0.1533:0.2879	.	684	P41226	UBA7_HUMAN	V	684	ENSP00000333266:G684V	ENSP00000333266:G684V	G	-	2	0	UBA7	49822016	0.116000	0.22171	0.522000	0.27862	0.938000	0.57974	0.364000	0.20325	0.694000	0.31654	0.655000	0.94253	GGC		0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		200	880	1	0	1.25801e-74	1	1.60312e-74	200	880				
RBMXL2	27288	broad.mit.edu	37	11	7111476	7111476	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111476C>T	ENST00000306904.5	+	1	1312	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	375	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCCCAGGGGCGGAGGCCGTC	0.602																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1123-1125)ggC>ggT		RNA binding motif protein, X-linked-like 2							11.0	13.0	12.0					11																	7111476		2199	4293	6492	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111476C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1125C>T	11.37:g.7111476C>T							p.G375G	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1312	+			375			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.1125C>T	CCDS7777.1																																																																																				0.602	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		19	84	0	0	0	1	0	19	84				
LAMA3	3909	broad.mit.edu	37	18	21494442	21494442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21494442C>T	ENST00000313654.9	+	57	7639	c.7398C>T	c.(7396-7398)gaC>gaT	p.D2466D	LAMA3_ENST00000399516.3_Silent_p.D2410D|LAMA3_ENST00000587184.1_Silent_p.D801D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Silent_p.D857D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2466	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACCTGGGGGACCGTGAGGCTG	0.537																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7396-7398)gaC>gaT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						92.0	84.0	87.0					18																	21494442		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21494442C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7398C>T	18.37:g.21494442C>T						LAMA3_ENST00000399516.3_Silent_p.D2410D|LAMA3_ENST00000269217.6_Silent_p.D857D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D801D	p.D2466D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			57	7639	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2466			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.7398C>T	CCDS42419.1																																																																																				0.537	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		48	221	0	0	0	1	0	48	221				
SLC35F2	54733	broad.mit.edu	37	11	107682519	107682519	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107682519G>A	ENST00000525815.1	-	3	708	c.288C>T	c.(286-288)ggC>ggT	p.G96G	SLC35F2_ENST00000375682.4_Splice_Site_p.G49G|SLC35F2_ENST00000429869.1_Splice_Site_p.G96G|SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000525071.1_Splice_Site_p.G96G	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	96					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGTTATCACTGCCTGGTTGAA	0.368																																						ENST00000525071.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.e6-1		solute carrier family 35, member F2							161.0	147.0	151.0					11																	107682519		1849	4091	5940	SO:0001630	splice_region_variant	54733				transport	integral to membrane		g.chr11:107682519G>A		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.287-1C>T	11.37:g.107682519G>A						SLC35F2_ENST00000375682.4_Splice_Site_p.G49_splice|SLC35F2_ENST00000525815.1_Splice_Site_p.G96_splice|SLC35F2_ENST00000429869.1_Splice_Site_p.G96_splice|SLC35F2_ENST00000265836.7_5'UTR	p.G96_splice			Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	6	876	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	96					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Splice_Site	SNP	ENST00000525815.1	37	c.286_splice	CCDS41709.1																																																																																				0.368	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515	Silent	87	421	0	0	0	1	0	87	421				
CMIP	80790	broad.mit.edu	37	16	81739151	81739151	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81739151C>T	ENST00000537098.3	+	19	2211	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CMIP_ENST00000539778.2_Silent_p.L619L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.L560L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	713						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						TCACCATGCTCCAGGTGCTGA	0.652																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(2137-2139)ctC>ctT		c-Maf inducing protein							46.0	50.0	49.0					16																	81739151		2027	4170	6197	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81739151C>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2139C>T	16.37:g.81739151C>T						CMIP_ENST00000539778.2_Silent_p.L619L|CMIP_ENST00000398040.4_Silent_p.L560L|CMIP_ENST00000566513.1_3'UTR	p.L713L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			19	2211	+			679					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.2139C>T	CCDS54044.1																																																																																				0.652	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		24	81	0	0	0	1	0	24	81				
NLRP14	338323	broad.mit.edu	37	11	7079535	7079535	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7079535G>T	ENST00000299481.4	+	8	2833	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	829					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCTCACAGAGGCTGGCTGTG	0.443																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2485-2487)gaG>gaT		NLR family, pyrin domain containing 14							162.0	151.0	155.0					11																	7079535		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079535G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2487G>T	11.37:g.7079535G>T	ENSP00000299481:p.Glu829Asp						p.E829D	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2833	+			829					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2487G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050293	0.01981	.	.	ENSG00000158077	ENST00000299481	T	0.19806	2.12	4.06	1.68	0.24146	.	0.403035	0.18198	N	0.148618	T	0.09202	0.0227	N	0.16478	0.41	0.09310	N	1	B	0.31435	0.323	B	0.29176	0.099	T	0.25606	-1.0127	10	0.21014	T	0.42	.	2.9839	0.05962	0.6653:0.0:0.1217:0.213	.	829	Q86W24	NAL14_HUMAN	D	829	ENSP00000299481:E829D	ENSP00000299481:E829D	E	+	3	2	NLRP14	7036111	0.000000	0.05858	0.287000	0.24848	0.436000	0.31835	-0.474000	0.06607	0.231000	0.21079	-1.107000	0.02091	GAG		0.443	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		103	438	1	0	2.14978e-47	1	2.64632e-47	103	438				
OSBPL8	114882	broad.mit.edu	37	12	76784265	76784265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76784265G>A	ENST00000261183.3	-	11	1581	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	368					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACAGGCTCAGGTTCGATATAT	0.393																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(1102-1104)Cct>Tct		oxysterol binding protein-like 8							256.0	217.0	230.0					12																	76784265		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76784265G>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1102C>T	12.37:g.76784265G>A	ENSP00000261183:p.Pro368Ser					OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S|OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S	p.P368S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			11	1581	-			368					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.1102C>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306712	0.23736	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.41758	1.55;1.54;1.55;0.99;1.0	5.48	4.59	0.56863	.	0.181563	0.49305	D	0.000143	T	0.24470	0.0593	N	0.08118	0	0.49582	D	0.999806	B;B	0.22851	0.009;0.076	B;B	0.13407	0.009;0.008	T	0.03231	-1.1058	10	0.25106	T	0.35	-15.2772	15.7765	0.78224	0.0:0.0:0.8627:0.1373	.	343;368	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	S	326;368;353;326;368;368;343	ENSP00000376939:P326S;ENSP00000261183:P368S;ENSP00000376940:P326S;ENSP00000450238:P368S;ENSP00000447893:P343S	ENSP00000261183:P368S	P	-	1	0	OSBPL8	75308396	1.000000	0.71417	0.979000	0.43373	0.615000	0.37417	2.702000	0.47102	1.309000	0.44985	-0.158000	0.13435	CCT		0.393	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		107	435	0	0	0	1	0	107	435				
DLAT	1737	broad.mit.edu	37	11	111916599	111916599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111916599C>T	ENST00000280346.6	+	10	1962	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	DLAT_ENST00000393051.1_Nonsense_Mutation_p.R330*|DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	435	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TATTGCACAGCGATTAATGCA	0.333																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1303-1305)Cga>Tga		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						84.0	76.0	79.0					11																	111916599		2201	4296	6497	SO:0001587	stop_gained	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111916599C>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1303C>T	11.37:g.111916599C>T	ENSP00000280346:p.Arg435*					DLAT_ENST00000393051.1_Nonsense_Mutation_p.R330*|DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*	p.R435*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	10	1962	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	435			Catalytic (By similarity).		Q16783|Q53EP3	Nonsense_Mutation	SNP	ENST00000280346.6	37	c.1303C>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	36	5.916536	0.97099	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	5.78	2.82	0.32997	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5003	9.6723	0.40019	0.3675:0.5686:0.0:0.064	.	.	.	.	X	435;330;267;206	.	ENSP00000280346:R435X	R	+	1	2	DLAT	111421809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.463000	0.45058	0.323000	0.23307	-0.140000	0.14226	CGA		0.333	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		30	153	0	0	0	1	0	30	153				
MYF5	4617	broad.mit.edu	37	12	81111163	81111163	+	Missense_Mutation	SNP	G	G	T	rs138763221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111163G>T	ENST00000228644.3	+	1	473	c.321G>T	c.(319-321)aaG>aaT	p.K107N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	107	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AAACCCTCAAGAGGTGTACCA	0.597																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(319-321)aaG>aaT		myogenic factor 5							72.0	67.0	69.0					12																	81111163		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111163G>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.321G>T	12.37:g.81111163G>T	ENSP00000228644:p.Lys107Asn						p.K107N	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	473	+			107			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.321G>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956824	0.73902	.	.	ENSG00000111049	ENST00000228644	D	0.98381	-4.9	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.044574	0.85682	D	0.000000	D	0.98748	0.9579	M	0.83483	2.645	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.98572	1.0646	10	0.66056	D	0.02	-14.152	10.1967	0.43058	0.0701:0.1373:0.7927:0.0	.	107	P13349	MYF5_HUMAN	N	107	ENSP00000228644:K107N	ENSP00000228644:K107N	K	+	3	2	MYF5	79635294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.083000	0.41615	2.882000	0.98803	0.655000	0.94253	AAG		0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		48	402	1	0	1.61004e-24	1	1.84098e-24	48	402				
RNASEH2A	10535	broad.mit.edu	37	19	12924273	12924273	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12924273G>T	ENST00000221486.4	+	8	987	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	298					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						TCAGCAACCAGCCTCTAGCAG	0.532																																						ENST00000221486.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						c.(892-894)aGc>aTc		ribonuclease H2, subunit A							60.0	55.0	57.0					19																	12924273		2203	4300	6503	SO:0001583	missense	10535				DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12924273G>T	Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.893G>T	19.37:g.12924273G>T	ENSP00000221486:p.Ser298Ile						p.S298I	NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN			8	987	+			298					B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	c.893G>T	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	9.021	0.984866	0.18889	.	.	ENSG00000104889	ENST00000221486	D	0.82984	-1.67	4.06	-5.83	0.02325	.	1.265410	0.05450	N	0.549285	T	0.71736	0.3375	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53878	-0.8376	10	0.39692	T	0.17	-2.3073	2.6883	0.05113	0.1069:0.1625:0.392:0.3386	.	298	O75792	RNH2A_HUMAN	I	298	ENSP00000221486:S298I	ENSP00000221486:S298I	S	+	2	0	RNASEH2A	12785273	0.000000	0.05858	0.017000	0.16124	0.800000	0.45204	-0.203000	0.09438	-0.960000	0.03613	-0.211000	0.12701	AGC		0.532	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		32	304	1	0	1.836e-18	1	2.03801e-18	32	304				
CARD17	440068	broad.mit.edu	37	11	104971328	104971328	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104971328A>G	ENST00000375707.1	-	2	202	c.186T>C	c.(184-186)atT>atC	p.I62I	CARD16_ENST00000525374.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	62	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CCCCTTTCCGAATAACAGAGT	0.473																																						ENST00000375707.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						c.(184-186)atT>atC		caspase recruitment domain family, member 17							150.0	140.0	144.0					11																	104971328		2202	4299	6501	SO:0001819	synonymous_variant	440068							g.chr11:104971328A>G		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.186T>C	11.37:g.104971328A>G						CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron	p.I62I	NM_001007232.1	NP_001007233.1					2	202	-									Silent	SNP	ENST00000375707.1	37	c.186T>C	CCDS31662.1																																																																																				0.473	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		60	601	0	0	0	1	0	60	601				
SLC5A7	60482	broad.mit.edu	37	2	108609533	108609533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609533C>T	ENST00000264047.2	+	4	674	c.398C>T	c.(397-399)cCt>cTt	p.P133L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P133L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P28L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	133					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGTTTATTCCTGCACTGATG	0.443																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(397-399)cCt>cTt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						129.0	117.0	121.0					2																	108609533		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108609533C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.398C>T	2.37:g.108609533C>T	ENSP00000264047:p.Pro133Leu					SLC5A7_ENST00000409059.1_Missense_Mutation_p.P133L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P28L	p.P133L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			4	674	+			133					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.398C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120112	0.94385	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.87650	-2.28;-2.28;-2.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.93309	0.6683	10	0.36615	T	0.2	-21.9717	20.6397	0.99537	0.0:1.0:0.0:0.0	.	133	Q9GZV3	SC5A7_HUMAN	L	133;28;133	ENSP00000387346:P133L;ENSP00000445351:P28L;ENSP00000264047:P133L	ENSP00000264047:P133L	P	+	2	0	SLC5A7	107975965	1.000000	0.71417	0.985000	0.45067	0.692000	0.40212	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	CCT		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			81	383	0	0	0	1	0	81	383				
PHIP	55023	broad.mit.edu	37	6	79650542	79650542	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79650542A>G	ENST00000275034.4	-	40	5501	c.5334T>C	c.(5332-5334)taT>taC	p.Y1778Y	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1778					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CATCCTCATTATAGAAAGCTG	0.428																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(5332-5334)taT>taC		pleckstrin homology domain interacting protein							586.0	577.0	580.0					6																	79650542		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650542A>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5334T>C	6.37:g.79650542A>G						PHIP_ENST00000479165.1_5'UTR	p.Y1778Y	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5501	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1778					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.5334T>C	CCDS4987.1																																																																																				0.428	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			82	365	0	0	0	1	0	82	365				
CCDC144A	9720	broad.mit.edu	37	17	16594033	16594033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16594033G>A	ENST00000360524.8	+	1	395	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Missense_Mutation_p.V107M|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V107M|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V107M|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V107M|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	107																	AGACACTGGCGTGGACAAGAG	0.652																																						ENST00000443444.2																			0											c.(319-321)Gtg>Atg		coiled-coil domain containing 144A							121.0	128.0	126.0					17																	16594033		2203	4300	6503	SO:0001583	missense	9720							g.chr17:16594033G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.319G>A	17.37:g.16594033G>A	ENSP00000353717:p.Val107Met					RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V107M|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000360524.8_Missense_Mutation_p.V107M|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V107M	p.V107M			A2RUR9	C144A_HUMAN			1	459	+			107					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.319G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	2.800	-0.249347	0.05867	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75	0.542	-1.08	0.09936	.	.	.	.	.	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.23797	-1.0178	8	0.41790	T	0.15	.	.	.	.	.	107	A2RUR9	C144A_HUMAN	M	107	ENSP00000344740:V107M;ENSP00000382215:V107M;ENSP00000439262:V107M;ENSP00000440655:V107M;ENSP00000353717:V107M;ENSP00000394201:V107M;ENSP00000353685:V107M	ENSP00000344740:V107M	V	+	1	0	CCDC144A	16534758	0.749000	0.28305	0.009000	0.14445	0.004000	0.04260	-0.912000	0.04046	-0.411000	0.07530	-0.779000	0.03376	GTG		0.652	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			210	1002	0	0	0	1	0	210	1002				
DST	667	broad.mit.edu	37	6	56473301	56473301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56473301C>T	ENST00000361203.3	-	36	5499	c.5492G>A	c.(5491-5493)cGt>cAt	p.R1831H	DST_ENST00000446842.2_Missense_Mutation_p.R1505H|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R1831H|DST_ENST00000370769.4_Missense_Mutation_p.R1831H|DST_ENST00000370754.5_Missense_Mutation_p.R2009H			Q03001	DYST_HUMAN	dystonin	1831					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACAGTTAAACGCTTGGCAGG	0.488																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6025-6027)cGt>cAt		dystonin							61.0	61.0	61.0					6																	56473301		1911	4127	6038	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56473301C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5492G>A	6.37:g.56473301C>T	ENSP00000354508:p.Arg1831His					DST_ENST00000370769.4_Missense_Mutation_p.R1831H|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R1831H|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.R1831H|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.R1505H	p.R2009H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	6025	-	Lung NSC(77;0.103)		1831					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6026G>A		.	.	.	.	.	.	.	.	.	.	C	16.59	3.166951	0.57476	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000064	T	0.65037	0.2653	.	.	.	0.34191	D	0.672011	P	0.43607	0.812	B	0.41440	0.357	T	0.74352	-0.3693	8	0.87932	D	0	.	12.1534	0.54062	0.0:0.9201:0.0:0.0799	.	1505	Q03001-9	.	H	2009;1831;1505;1831;1831;1505	ENSP00000359790:R2009H;ENSP00000359805:R1831H;ENSP00000393645:R1505H;ENSP00000307959:R1831H;ENSP00000354508:R1831H;ENSP00000404924:R1505H	ENSP00000307959:R1831H	R	-	2	0	DST	56581260	0.996000	0.38824	0.275000	0.24674	0.979000	0.70002	3.817000	0.55668	2.584000	0.87258	0.455000	0.32223	CGT		0.488	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		25	124	0	0	0	1	0	25	124				
CLEC12B	387837	broad.mit.edu	37	12	10167267	10167267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10167267G>T	ENST00000338896.5	+	3	464	c.336G>T	c.(334-336)caG>caT	p.Q112H	CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Missense_Mutation_p.Q112H|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCAAGTCACAGATCTCCAGTG	0.458																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(334-336)caG>caT		C-type lectin domain family 12, member B							98.0	92.0	94.0					12																	10167267		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167267G>T	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.336G>T	12.37:g.10167267G>T	ENSP00000344563:p.Gln112His					CLEC12B_ENST00000338896.5_Missense_Mutation_p.Q112H	p.Q112H	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			3	464	+			112					Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.336G>T	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467313	0.43839	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.17854	2.25;2.25	4.13	0.963	0.19649	C-type lectin fold (1);Ly49-like N-terminal (1);	0.508822	0.16725	N	0.202096	T	0.20700	0.0498	M	0.77313	2.365	0.22982	N	0.998474	P;P	0.36789	0.57;0.514	B;B	0.43990	0.438;0.311	T	0.12578	-1.0542	10	0.17832	T	0.49	.	3.235	0.06761	0.2275:0.0:0.5672:0.2053	.	112;112	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	H	112	ENSP00000379759:Q112H;ENSP00000344563:Q112H	ENSP00000344563:Q112H	Q	+	3	2	CLEC12B	10058534	1.000000	0.71417	0.932000	0.37286	0.819000	0.46315	1.450000	0.35134	0.477000	0.27464	0.462000	0.41574	CAG		0.458	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		57	231	1	0	2.23044e-30	1	2.6157e-30	57	231				
RNPEP	6051	broad.mit.edu	37	1	201972481	201972481	+	Missense_Mutation	SNP	G	G	A	rs371058454	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201972481G>A	ENST00000295640.4	+	9	1586	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	515					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GTGGGCAGCCGAGGAGCTGGA	0.587													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17193	0.0		0.0	False		,,,				2504	0.0				GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1543-1545)Gag>Aag		arginyl aminopeptidase (aminopeptidase B)		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	74.0	63.0	67.0		1543	-3.7	0.0	1		67	0,8600		0,0,4300	no	missense	RNPEP	NM_020216.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	515/651	201972481	1,13005	2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201972481G>A	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1543G>A	1.37:g.201972481G>A	ENSP00000295640:p.Glu515Lys					RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K	p.E515K	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	9	1586	+			515					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1543G>A	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	0.219	-1.030092	0.02045	2.27E-4	0.0	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.39787	1.06;1.06	5.33	-3.72	0.04411	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	1.082770	0.06964	N	0.816941	T	0.15998	0.0385	N	0.12182	0.205	0.09310	N	1	B;B	0.20052	0.041;0.016	B;B	0.20955	0.032;0.032	T	0.22941	-1.0202	10	0.06757	T	0.87	-6.6993	0.4726	0.00534	0.3803:0.2115:0.1831:0.2251	.	523;515	Q7RU04;Q9H4A4	.;AMPB_HUMAN	K	515;476	ENSP00000295640:E515K;ENSP00000356255:E476K	ENSP00000295640:E515K	E	+	1	0	RNPEP	200239104	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.531000	0.06171	-0.692000	0.05128	0.561000	0.74099	GAG		0.587	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		61	170	0	0	0	1	0	61	170				
OR2T33	391195	broad.mit.edu	37	1	248436839	248436839	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248436839G>T	ENST00000318021.2	-	1	299	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACAGCCAGCGCGGGAGAT	0.577																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(277-279)gCt>gAt		olfactory receptor, family 2, subfamily T, member 33							74.0	67.0	69.0					1																	248436839		2203	4297	6500	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436839G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.278C>A	1.37:g.248436839G>T	ENSP00000324687:p.Ala93Asp						p.A93D	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	299	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		93					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.278C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	10.28	1.307644	0.23821	.	.	ENSG00000177212	ENST00000318021	T	0.00397	7.57	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.230385	0.21954	U	0.066696	T	0.00666	0.0022	M	0.70275	2.135	0.09310	N	1	D	0.56287	0.975	P	0.60345	0.873	T	0.46992	-0.9151	10	0.56958	D	0.05	.	10.2203	0.43192	0.0:0.0:0.8002:0.1997	.	93	Q8NG76	O2T33_HUMAN	D	93	ENSP00000324687:A93D	ENSP00000324687:A93D	A	-	2	0	OR2T33	246503462	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.134000	0.10436	1.437000	0.47472	0.494000	0.49563	GCT		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		51	1040	1	0	7.22619e-39	1	8.72213e-39	51	1040				
PIGS	94005	broad.mit.edu	37	17	26888486	26888486	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26888486C>A	ENST00000308360.7	-	6	1005	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PIGS_ENST00000395346.2_Missense_Mutation_p.E202D|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.E149D	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	210					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCACTTGTCCTCTGGAAGGT	0.572																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(628-630)gaG>gaT		phosphatidylinositol glycan anchor biosynthesis, class S							74.0	60.0	65.0					17																	26888486		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26888486C>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.630G>T	17.37:g.26888486C>A	ENSP00000309430:p.Glu210Asp					PIGS_ENST00000543734.1_Missense_Mutation_p.E149D|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.E202D	p.E210D	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			6	1005	-	Lung NSC(42;0.00431)		210					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.630G>T	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062502	0.36373	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.45276	0.9;0.9;0.9	5.68	2.66	0.31614	.	0.475758	0.25750	N	0.028551	T	0.22282	0.0537	N	0.20685	0.6	0.27407	N	0.954689	B;B	0.15930	0.015;0.012	B;B	0.13407	0.009;0.005	T	0.14364	-1.0475	10	0.22109	T	0.4	-26.0276	4.72	0.12913	0.2364:0.5327:0.0:0.2309	.	210;202	Q96S52;Q96S52-2	PIGS_HUMAN;.	D	202;210;149	ENSP00000378755:E202D;ENSP00000309430:E210D;ENSP00000438447:E149D	ENSP00000309430:E210D	E	-	3	2	PIGS	23912613	0.957000	0.32711	1.000000	0.80357	0.996000	0.88848	0.682000	0.25335	0.356000	0.24157	-0.136000	0.14681	GAG		0.572	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		9	177	1	0	1.12685e-05	1	1.15515e-05	9	177				
PIK3C2B	5287	broad.mit.edu	37	1	204429749	204429749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204429749G>A	ENST00000367187.3	-	7	1907	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	451	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R451C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCAAACTTGCGGCAGTATTGG	0.562																																						ENST00000367187.3																			1	Substitution - Missense(1)	p.R451C(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1351-1353)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							153.0	120.0	131.0					1																	204429749		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204429749G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1351C>T	1.37:g.204429749G>A	ENSP00000356155:p.Arg451Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	p.R451C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		7	1907	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		451					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1351C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524363	0.64747	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61742	0.08;0.11	5.81	5.81	0.92471	Phosphoinositide 3-kinase, ras-binding (2);	0.297810	0.33023	N	0.005363	T	0.67767	0.2928	L	0.43923	1.385	0.48236	D	0.999613	D;D	0.89917	0.998;1.0	P;D	0.87578	0.827;0.998	T	0.66380	-0.5938	10	0.46703	T	0.11	.	12.5393	0.56161	0.0:0.0:0.8338:0.1662	.	451;451	F5GWN5;O00750	.;P3C2B_HUMAN	C	451	ENSP00000356155:R451C;ENSP00000400561:R451C	ENSP00000356155:R451C	R	-	1	0	PIK3C2B	202696372	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.537000	0.45702	2.746000	0.94184	0.655000	0.94253	CGC		0.562	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		59	263	0	0	0	1	0	59	263				
SP140L	93349	broad.mit.edu	37	2	231264950	231264950	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264950A>G	ENST00000415673.2	+	15	1392	c.1306A>G	c.(1306-1308)Agt>Ggt	p.S436G	SP140L_ENST00000243810.6_Missense_Mutation_p.S436G|SP140L_ENST00000444636.1_Missense_Mutation_p.S436G|SP140L_ENST00000396563.4_Missense_Mutation_p.S401G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	436						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACCTGTGGAAAGTGAGAAGTA	0.527																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1306-1308)Agt>Ggt		SP140 nuclear body protein-like							114.0	118.0	116.0					2																	231264950		2090	4242	6332	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264950A>G	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1306A>G	2.37:g.231264950A>G	ENSP00000397911:p.Ser436Gly					SP140L_ENST00000396563.4_Missense_Mutation_p.S401G|SP140L_ENST00000415673.2_Missense_Mutation_p.S436G|SP140L_ENST00000444636.1_Missense_Mutation_p.S436G	p.S436G			Q9H930	LY10L_HUMAN			15	1306	+			436					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1306A>G	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	a	8.272	0.813488	0.16537	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.85339	-1.64;-1.97;-1.64;-1.76	2.8	-4.25	0.03766	.	.	.	.	.	T	0.76976	0.4063	L	0.46819	1.47	0.09310	N	1	B;B	0.19331	0.035;0.03	B;B	0.23716	0.048;0.043	T	0.64411	-0.6414	9	0.66056	D	0.02	.	5.9102	0.19025	0.1977:0.0:0.6305:0.1718	.	401;436	Q9H930-2;Q9H930-4	.;.	G	436;436;436;401	ENSP00000395195:S436G;ENSP00000397911:S436G;ENSP00000243810:S436G;ENSP00000379811:S401G	ENSP00000243810:S436G	S	+	1	0	SP140L	230973194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.530000	0.02221	-0.912000	0.03837	-2.382000	0.00231	AGT		0.527	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		57	242	0	0	0	1	0	57	242				
DCC	1630	broad.mit.edu	37	18	50278519	50278519	+	Missense_Mutation	SNP	G	G	A	rs558026226		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50278519G>A	ENST00000442544.2	+	2	803	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	63	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGACTGCTCCGCGGAGTCCGA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		17326	0.0		0.0	False		,,,				2504	0.001					ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(187-189)Gcg>Acg		deleted in colorectal carcinoma							72.0	70.0	71.0					18																	50278519		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278519G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.187G>A	18.37:g.50278519G>A	ENSP00000389140:p.Ala63Thr						p.A63T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	803	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	63			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.187G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851659	0.71719	.	.	ENSG00000187323	ENST00000442544	T	0.15603	2.41	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	T	0.45760	-0.9239	10	0.72032	D	0.01	.	18.5252	0.90969	0.0:0.0:1.0:0.0	.	63	P43146	DCC_HUMAN	T	63	ENSP00000389140:A63T	ENSP00000389140:A63T	A	+	1	0	DCC	48532517	1.000000	0.71417	0.850000	0.33497	0.146000	0.21551	4.507000	0.60434	2.676000	0.91093	0.655000	0.94253	GCG		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		42	210	0	0	0	1	0	42	210				
YY1AP1	55249	broad.mit.edu	37	1	155646536	155646536	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155646536A>C	ENST00000295566.4	-	5	348	c.325T>G	c.(325-327)Ttt>Gtt	p.F109V	YY1AP1_ENST00000361831.5_Splice_Site_p.F32V|YY1AP1_ENST00000438245.2_Splice_Site_p.F43V|YY1AP1_ENST00000368339.5_Splice_Site_p.F181V|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Splice_Site_p.F32V|YY1AP1_ENST00000347088.5_Splice_Site_p.F43V|YY1AP1_ENST00000407221.1_Splice_Site_p.F32V|YY1AP1_ENST00000404643.1_Splice_Site_p.F43V|YY1AP1_ENST00000355499.4_Splice_Site_p.F43V|YY1AP1_ENST00000311573.5_Splice_Site_p.F32V|YY1AP1_ENST00000368340.5_Splice_Site_p.F181V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_Splice_Site_p.F43V|YY1AP1_ENST00000405763.3_Splice_Site_p.F181V|YY1AP1_ENST00000535662.1_5'Flank	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	109					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGTTCCTCAAACCTATCCCAA	0.408																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.e4-1		YY1 associated protein 1							131.0	112.0	119.0					1																	155646536		2203	4300	6503	SO:0001630	splice_region_variant	55249							g.chr1:155646536A>C	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.324-1T>G	1.37:g.155646536A>C						YY1AP1_ENST00000361831.5_Splice_Site_p.F32_splice|YY1AP1_ENST00000368330.2_Splice_Site_p.F43_splice|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000405763.3_Splice_Site_p.F181_splice|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000407221.1_Splice_Site_p.F32_splice|YY1AP1_ENST00000359205.5_Splice_Site_p.F32_splice|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Splice_Site_p.F43_splice|YY1AP1_ENST00000311573.5_Splice_Site_p.F32_splice|YY1AP1_ENST00000295566.4_Splice_Site_p.F109_splice|YY1AP1_ENST00000438245.2_Splice_Site_p.F43_splice|YY1AP1_ENST00000368339.5_Splice_Site_p.F181_splice|YY1AP1_ENST00000355499.4_Splice_Site_p.F43_splice|YY1AP1_ENST00000404643.1_Splice_Site_p.F43_splice	p.F181_splice	NM_001198904.1	NP_001185833.1					4	649	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Splice_Site	SNP	ENST00000295566.4	37	c.539_splice	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417714	0.62622	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.55;1.61;1.59;1.61;1.55;1.52;1.54;1.61;1.59;1.61;1.52	3.78	3.78	0.43462	.	0.216427	0.41823	D	0.000816	T	0.42381	0.1200	M	0.68952	2.095	0.42822	D	0.993996	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.991;0.999;0.991;0.998;0.99	T	0.46062	-0.9218	10	0.72032	D	0.01	.	12.3301	0.55035	1.0:0.0:0.0:0.0	.	43;109;181;181;109;43;181	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	V	32;43;32;43;32;181;109;43;32;43;181;181;43;32;43	ENSP00000352134:F32V;ENSP00000347686:F43V;ENSP00000311138:F32V;ENSP00000316079:F43V;ENSP00000355298:F32V;ENSP00000357324:F181V;ENSP00000295566:F109V;ENSP00000357314:F43V;ENSP00000385791:F32V;ENSP00000385390:F43V;ENSP00000357323:F181V	ENSP00000295566:F109V	F	-	1	0	YY1AP1	153913160	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.963000	0.70372	1.573000	0.49748	0.374000	0.22700	TTT		0.408	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	Missense_Mutation	43	288	0	0	0	1	0	43	288				
DHX57	90957	broad.mit.edu	37	2	39082360	39082360	+	Missense_Mutation	SNP	G	G	T	rs374541160		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39082360G>T	ENST00000295373.6	-	8	1870	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	582	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAATCATCCAGAATAAACTGC	0.413																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1744-1746)Ctg>Atg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							124.0	119.0	120.0					2																	39082360		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39082360G>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1744C>A	2.37:g.39082360G>T	ENSP00000295373:p.Leu582Met						p.L582M	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			8	1870	-		all_hematologic(82;0.248)	582			Helicase ATP-binding.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1744C>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564249	0.65651	.	.	ENSG00000163214	ENST00000295373	T	0.07688	3.17	5.26	4.38	0.52667	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.40728	N	0.001022	T	0.24353	0.0590	M	0.74546	2.27	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00862	-1.1536	10	0.66056	D	0.02	.	6.7108	0.23276	0.3053:0.0:0.6947:0.0	.	582;582;582	Q6P158-2;Q6P158;B4DKW2	.;DHX57_HUMAN;.	M	582	ENSP00000295373:L582M	ENSP00000295373:L582M	L	-	1	2	DHX57	38935864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	1.350000	0.45770	0.650000	0.86243	CTG		0.413	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		202	604	1	0	2.09317e-103	1	2.69287e-103	202	604				
URB2	9816	broad.mit.edu	37	1	229795022	229795022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229795022G>A	ENST00000258243.2	+	10	4689	c.4553G>A	c.(4552-4554)gGa>gAa	p.G1518E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1518						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAACATGAAGGAGAGAAAAGA	0.507																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4552-4554)gGa>gAa		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							104.0	110.0	108.0					1																	229795022		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229795022G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4553G>A	1.37:g.229795022G>A	ENSP00000258243:p.Gly1518Glu						p.G1518E	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			10	4689	+			1518					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.4553G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282062	0.80692	.	.	ENSG00000135763	ENST00000258243	T	0.50548	0.74	5.5	5.5	0.81552	.	0.050544	0.85682	D	0.000000	T	0.63046	0.2478	M	0.61703	1.905	0.58432	D	0.999998	D	0.76494	0.999	D	0.64144	0.922	T	0.61695	-0.7010	9	.	.	.	-11.8818	14.6098	0.68507	0.0:0.1456:0.8543:0.0	.	1518	Q14146	URB2_HUMAN	E	1518	ENSP00000258243:G1518E	.	G	+	2	0	URB2	227861645	1.000000	0.71417	0.663000	0.29738	0.965000	0.64279	6.264000	0.72527	2.576000	0.86940	0.650000	0.86243	GGA		0.507	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		189	591	0	0	0	1	0	189	591				
NEUROD6	63974	broad.mit.edu	37	7	31378468	31378468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378468C>T	ENST00000297142.3	-	2	737	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	139	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TAGTTTTTGGCCAGTCGTAAA	0.458																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(415-417)Gcc>Acc		neuronal differentiation 6							71.0	75.0	74.0					7																	31378468		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378468C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.415G>A	7.37:g.31378468C>T	ENSP00000297142:p.Ala139Thr						p.A139T	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	737	-			139			Helix-loop-helix motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.415G>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109882	0.77210	.	.	ENSG00000164600	ENST00000297142	D	0.99422	-5.88	5.25	5.25	0.73442	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.87617	2.895	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.98231	1.0483	10	0.87932	D	0	-15.8261	18.86	0.92268	0.0:1.0:0.0:0.0	.	139	Q96NK8	NDF6_HUMAN	T	139	ENSP00000297142:A139T	ENSP00000297142:A139T	A	-	1	0	NEUROD6	31344993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.459000	0.83118	0.650000	0.86243	GCC		0.458	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		12	395	0	0	0	1	0	12	395				
NDNF	79625	broad.mit.edu	37	4	121957901	121957901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121957901G>T	ENST00000379692.4	-	4	1751	c.1225C>A	c.(1225-1227)Ctt>Att	p.L409I	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	409					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTCCTCTAAGCTGAAACTGC	0.413																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1225-1227)Ctt>Att		neuron-derived neurotrophic factor							114.0	112.0	112.0					4																	121957901		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121957901G>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1225C>A	4.37:g.121957901G>T	ENSP00000369014:p.Leu409Ile						p.L409I	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1751	-			409					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1225C>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067490	0.20067	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.64	2.76	0.32466	.	0.059400	0.64402	D	0.000002	T	0.47377	0.1442	L	0.49350	1.555	0.58432	D	0.999994	B	0.09022	0.002	B	0.17098	0.017	T	0.33828	-0.9853	9	0.29301	T	0.29	-18.5846	8.5616	0.33514	0.0722:0.0:0.6552:0.2726	.	409	Q8TB73	NDNF_HUMAN	I	409	.	ENSP00000369014:L409I	L	-	1	0	NDNF	122177351	1.000000	0.71417	0.960000	0.40013	0.941000	0.58515	3.281000	0.51685	0.698000	0.31739	0.655000	0.94253	CTT		0.413	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		141	548	1	0	5.05259e-68	1	6.40366e-68	141	548				
ZNF559	84527	broad.mit.edu	37	19	9453386	9453386	+	Missense_Mutation	SNP	G	G	A	rs182459884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9453386G>A	ENST00000393883.2	+	6	1907	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCTTCATTCGATCCTCATTT	0.418													G|||	3	0.000599042	0.0	0.0043	5008	,	,		23436	0.0		0.0	False		,,,				2504	0.0					ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(1258-1260)cGa>cAa		zinc finger protein 559							82.0	65.0	71.0					19																	9453386		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453386G>A	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1259G>A	19.37:g.9453386G>A	ENSP00000377461:p.Arg420Gln					ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q	p.R420Q	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1907	+			420					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.1259G>A	CCDS12211.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	2.445	-0.327701	0.05314	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.15017	2.46;2.46	2.22	-4.44	0.03557	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.17278	0.47	0.09310	N	1	P;D;P	0.76494	0.937;0.999;0.544	B;P;B	0.61592	0.162;0.891;0.032	T	0.05750	-1.0866	9	0.02654	T	1	.	3.6878	0.08335	0.2228:0.0:0.325:0.4522	.	420;420;340	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Q	420;340;420	ENSP00000442832:R340Q;ENSP00000377461:R420Q	ENSP00000325393:R420Q	R	+	2	0	ZNF559	9314386	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-2.816000	0.00752	-1.259000	0.02468	0.313000	0.20887	CGA		0.418	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		67	318	0	0	0	1	0	67	318				
ADH7	131	broad.mit.edu	37	4	100341936	100341936	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341936G>T	ENST00000209665.4	-	6	855	c.615C>A	c.(613-615)tcC>tcA	p.S205S	ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000482593.1_Silent_p.S136S|ADH7_ENST00000437033.2_Silent_p.S193S	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	205					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CGACGCAAGTGGAACCAGGTT	0.473																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(577-579)tcC>tcA		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						67.0	58.0	61.0					4																	100341936		2203	4300	6503	SO:0001819	synonymous_variant	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341936G>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.615C>A	4.37:g.100341936G>T						ADH7_ENST00000209665.4_Silent_p.S205S|ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000482593.1_Silent_p.S136S	p.S193S			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	6	1082	-			205					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	37	c.579C>A	CCDS34034.1																																																																																				0.473	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		35	162	1	0	2.42023e-17	1	2.67004e-17	35	162				
NUP210	23225	broad.mit.edu	37	3	13381381	13381381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13381381C>A	ENST00000254508.5	-	25	3526	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1148					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ccttgccGGTCTCTGCATCCA	0.592																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3442-3444)gaG>gaT		nucleoporin 210kDa							107.0	102.0	104.0					3																	13381381		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13381381C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3444G>T	3.37:g.13381381C>A	ENSP00000254508:p.Glu1148Asp					NUP210_ENST00000485755.1_5'UTR	p.E1148D	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			25	3526	-	all_neural(104;0.187)		1148					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3444G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140653	0.21205	.	.	ENSG00000132182	ENST00000254508	T	0.43688	0.94	5.19	3.38	0.38709	Bacterial Ig-like, group 2 (2);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.28740	0.885	0.50313	D	0.999862	D	0.69078	0.997	D	0.66497	0.944	T	0.35699	-0.9778	10	0.11794	T	0.64	-27.8704	5.6999	0.17877	0.0:0.6331:0.1434:0.2235	.	1148	Q8TEM1	PO210_HUMAN	D	1148	ENSP00000254508:E1148D	ENSP00000254508:E1148D	E	-	3	2	NUP210	13356381	1.000000	0.71417	0.880000	0.34516	0.450000	0.32258	0.943000	0.29030	0.574000	0.29417	0.655000	0.94253	GAG		0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		190	602	1	0	1.35662e-99	1	1.74458e-99	190	602				
OR4D5	219875	broad.mit.edu	37	11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	rs143337717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123811251G>T	ENST00000307033.2	+	1	1002	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACCCTATTGGTCCCCTGGA	0.502																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(928-930)Ggt>Tgt		olfactory receptor, family 4, subfamily D, member 5		G	CYS/GLY	0,4404		0,0,2202	63.0	64.0	64.0		928	0.9	0.0	11	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	159	0,1,6500	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	310/319	123811251	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811251G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.928G>T	11.37:g.123811251G>T	ENSP00000305970:p.Gly310Cys						p.G310C	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	1002	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	310					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.928G>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732086	0.30684	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00291	8.27	4.06	0.94	0.19513	.	1.922100	0.03237	U	0.179774	T	0.00178	0.0005	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39185	0.293	T	0.43048	-0.9415	10	0.72032	D	0.01	1.7891	4.7886	0.13238	0.2185:0.1741:0.6074:0.0	.	310	Q8NGN0	OR4D5_HUMAN	C	310	ENSP00000305970:G310C	ENSP00000305970:G310C	G	+	1	0	OR4D5	123316461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.090000	0.15025	0.080000	0.16959	-1.109000	0.02080	GGT		0.502	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		70	320	1	0	3.82274e-22	1	4.32047e-22	70	320				
PRDM9	56979	broad.mit.edu	37	5	23509692	23509692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23509692G>A	ENST00000296682.3	+	3	365	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	61	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAATGCACTGATTACTATAG	0.433										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(181-183)ctG>ctA		PR domain containing 9							155.0	144.0	147.0					5																	23509692		1868	4113	5981	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509692G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.183G>A	5.37:g.23509692G>A		HNSCC(3;0.000094)					p.L61L	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			3	365	+			61			KRAB-related.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.183G>A	CCDS43307.1																																																																																				0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		91	363	0	0	0	1	0	91	363				
ABCA9	10350	broad.mit.edu	37	17	67022579	67022579	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67022579G>T	ENST00000340001.4	-	16	2291	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M|ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	694	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACACTTCAGCTTCCCATTG	0.393																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2080-2082)Ctg>Atg		ATP-binding cassette, sub-family A (ABC1), member 9							230.0	220.0	224.0					17																	67022579		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67022579G>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2080C>A	17.37:g.67022579G>T	ENSP00000342216:p.Leu694Met					ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M|ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M	p.L694M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			16	2291	-	Breast(10;1.47e-12)		694			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2080C>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007234	0.54361	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.94330	-3.4;-3.4	5.43	4.47	0.54385	ABC transporter-like (1);	0.000000	0.37857	N	0.001907	D	0.95456	0.8524	L	0.57536	1.79	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95684	0.8734	10	0.87932	D	0	.	13.0931	0.59176	0.0782:0.0:0.9218:0.0	.	694;694	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	694;677;694;689	ENSP00000342216:L694M;ENSP00000359767:L694M	ENSP00000342216:L694M	L	-	1	2	ABCA9	64534174	0.857000	0.29778	0.987000	0.45799	0.321000	0.28281	1.123000	0.31308	1.437000	0.47472	0.655000	0.94253	CTG		0.393	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		236	975	1	0	1.46484e-98	1	1.88337e-98	236	975				
DSCAM	1826	broad.mit.edu	37	21	41384987	41384987	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41384987A>G	ENST00000400454.1	-	33	6490	c.6013T>C	c.(6013-6015)Tac>Cac	p.Y2005H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2005				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTTGCGTAAGGATTGTTT	0.463																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(6013-6015)Tac>Cac		Down syndrome cell adhesion molecule							69.0	67.0	68.0					21																	41384987		1890	4126	6016	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41384987A>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.6013T>C	21.37:g.41384987A>G	ENSP00000383303:p.Tyr2005His						p.Y2005H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6490	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	2005	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.6013T>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	17.07	3.295528	0.60086	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.71222	-0.41;-0.55	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.63843	1.955	0.45097	D	0.998111	D	0.71674	0.998	D	0.78314	0.991	D	0.84193	0.0446	10	0.87932	D	0	.	15.4267	0.75059	1.0:0.0:0.0:0.0	.	2005	O60469	DSCAM_HUMAN	H	2005;1739	ENSP00000383303:Y2005H;ENSP00000385342:Y1739H	ENSP00000383303:Y2005H	Y	-	1	0	DSCAM	40306857	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	8.686000	0.91250	2.041000	0.60428	0.455000	0.32223	TAC		0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		11	197	0	0	0	1	0	11	197				
VDAC1	7416	broad.mit.edu	37	5	133326749	133326749	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133326749T>C	ENST00000265333.3	-	4	458	c.214A>G	c.(214-216)Aca>Gca	p.T72A	VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	72					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CATTTCTCTGTAAACGTCAGG	0.458																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(214-216)Aca>Gca		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						212.0	191.0	198.0					5																	133326749		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326749T>C		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.214A>G	5.37:g.133326749T>C	ENSP00000265333:p.Thr72Ala					VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A	p.T72A	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	458	-			72					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.214A>G	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303855	0.81136	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.91	5.91	0.95273	.	0.044704	0.85682	D	0.000000	T	0.65133	0.2662	M	0.89715	3.055	0.80722	D	1	B	0.23058	0.079	B	0.37015	0.239	T	0.67760	-0.5587	10	0.72032	D	0.01	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	72	P21796	VDAC1_HUMAN	A	72	ENSP00000265333:T72A;ENSP00000378484:T72A;ENSP00000378487:T72A;ENSP00000390129:T72A	ENSP00000265333:T72A	T	-	1	0	VDAC1	133354648	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	7.970000	0.88000	2.254000	0.74563	0.533000	0.62120	ACA		0.458	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			176	711	0	0	0	1	0	176	711				
NKD1	85407	broad.mit.edu	37	16	50667286	50667286	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50667286G>A	ENST00000268459.3	+	10	1231	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	336					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAACGGCTCCGGGGCACCCAG	0.642																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1006-1008)cGg>cAg		naked cuticle homolog 1 (Drosophila)							72.0	83.0	79.0					16																	50667286		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667286G>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1007G>A	16.37:g.50667286G>A	ENSP00000268459:p.Arg336Gln						p.R336Q	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1231	+		all_cancers(37;0.229)	336					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.1007G>A	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308309	0.81247	.	.	ENSG00000140807	ENST00000268459	T	0.69435	-0.4	4.44	4.44	0.53790	.	0.069272	0.64402	D	0.000017	T	0.79851	0.4517	M	0.74881	2.28	0.46586	D	0.999114	D	0.76494	0.999	D	0.65323	0.934	T	0.82922	-0.0217	10	0.72032	D	0.01	-23.2055	15.4353	0.75140	0.0:0.0:1.0:0.0	.	336	Q969G9	NKD1_HUMAN	Q	336	ENSP00000268459:R336Q	ENSP00000268459:R336Q	R	+	2	0	NKD1	49224787	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.636000	0.74299	2.297000	0.77311	0.585000	0.79938	CGG		0.642	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			105	528	0	0	0	1	0	105	528				
ICAM5	7087	broad.mit.edu	37	19	10402269	10402269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10402269C>T	ENST00000221980.4	+	3	520	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	ICAM5_ENST00000586004.1_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	153	Ig-like C2-type 2.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCGTGCGAGCCTCACGCTGAC	0.721																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(457-459)Ctc>Ttc		intercellular adhesion molecule 5, telencephalin							25.0	33.0	30.0					19																	10402269		2139	4191	6330	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10402269C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.457C>T	19.37:g.10402269C>T	ENSP00000221980:p.Leu153Phe					ICAM5_ENST00000586004.1_3'UTR	p.L153F	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		3	520	+			153			Ig-like C2-type 2.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.457C>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.873232	0.91664	.	.	ENSG00000105376	ENST00000221980	T	0.07327	3.2	5.5	5.5	0.81552	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.30355	0.0762	M	0.78916	2.43	0.36512	D	0.869632	D	0.89917	1.0	D	0.97110	1.0	T	0.18840	-1.0324	10	0.66056	D	0.02	-29.093	14.9435	0.71012	0.0:1.0:0.0:0.0	.	153	Q9UMF0	ICAM5_HUMAN	F	153	ENSP00000221980:L153F	ENSP00000221980:L153F	L	+	1	0	ICAM5	10263269	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.566000	0.45948	2.602000	0.87976	0.466000	0.42574	CTC		0.721	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		31	600	0	0	0	1	0	31	600				
CECR2	27443	broad.mit.edu	37	22	18003201	18003201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18003201C>T	ENST00000400585.2	+	9	961	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	CECR2_ENST00000342247.5_Missense_Mutation_p.R268C|CECR2_ENST00000400573.5_Missense_Mutation_p.R316C|CECR2_ENST00000262608.8_Missense_Mutation_p.R297C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	338					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGAAGAAGAGCGTCAGATTCT	0.493																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(889-891)Cgt>Tgt		cat eye syndrome chromosome region, candidate 2							70.0	73.0	72.0					22																	18003201		2058	4201	6259	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18003201C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.523C>T	22.37:g.18003201C>T	ENSP00000383428:p.Arg175Cys					CECR2_ENST00000342247.5_Missense_Mutation_p.R268C|CECR2_ENST00000400585.2_Missense_Mutation_p.R175C|CECR2_ENST00000400573.4_Missense_Mutation_p.R316C	p.R297C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	8	889	+		all_epithelial(15;0.139)	338					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.889C>T		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008830	0.75046	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.44083	0.93;1.55;1.56;1.17	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000097	T	0.62073	0.2398	M	0.64997	1.995	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.996;0.997;0.996	T	0.63274	-0.6674	10	0.87932	D	0	-22.3781	14.5723	0.68220	0.1463:0.8537:0.0:0.0	.	338;175;310;316	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	C	268;175;316;297	ENSP00000341219:R268C;ENSP00000383428:R175C;ENSP00000383417:R316C;ENSP00000262608:R297C	ENSP00000262608:R297C	R	+	1	0	CECR2	16383201	0.920000	0.31207	0.762000	0.31397	0.862000	0.49288	1.218000	0.32467	2.764000	0.94973	0.650000	0.86243	CGT		0.493	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	48	0	0	0	1	0	12	48				
DIDO1	11083	broad.mit.edu	37	20	61513253	61513253	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513253T>C	ENST00000266070.4	-	16	4380	c.4055A>G	c.(4054-4056)gAc>gGc	p.D1352G	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1352					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGCACCCCGTCCTCTGCTGT	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4054-4056)gAc>gGc		death inducer-obliterator 1							87.0	103.0	98.0					20																	61513253		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513253T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4055A>G	20.37:g.61513253T>C	ENSP00000266070:p.Asp1352Gly					DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	p.D1352G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4380	-	Breast(26;5.68e-08)		1352					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4055A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	9.718	1.158989	0.21454	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	5.4	0.574	0.17368	.	0.754501	0.11133	N	0.596070	T	0.02807	0.0084	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46162	-0.9211	10	0.27082	T	0.32	-12.7922	5.3733	0.16152	0.0:0.3899:0.1524:0.4577	.	1352	Q9BTC0	DIDO1_HUMAN	G	1352	ENSP00000266070:D1352G;ENSP00000378752:D1352G	ENSP00000266070:D1352G	D	-	2	0	DIDO1	60983698	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.089000	0.11180	-0.059000	0.13154	0.460000	0.39030	GAC		0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		172	726	0	0	0	1	0	172	726				
INO80D	54891	broad.mit.edu	37	2	206869669	206869669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206869669G>A	ENST00000403263.1	-	11	2911	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	836					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGGGAGACGGCACATGCTC	0.507																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(2506-2508)cCg>cTg		INO80 complex subunit D							254.0	241.0	245.0					2																	206869669		2150	4259	6409	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869669G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2507C>T	2.37:g.206869669G>A	ENSP00000384198:p.Pro836Leu						p.P836L	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			11	2911	-			836					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2507C>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525585	0.64860	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.38560	1.13	5.91	5.02	0.67125	.	0.166320	0.53938	D	0.000043	T	0.31575	0.0801	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	B	0.40285	0.325	T	0.04522	-1.0945	10	0.27785	T	0.31	.	17.0934	0.86627	0.0:0.1268:0.8732:0.0	.	836	Q53TQ3-2	.	L	836	ENSP00000384198:P836L	ENSP00000233270:P836L	P	-	2	0	INO80D	206577914	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.230000	0.95299	1.482000	0.48325	-0.175000	0.13238	CCG		0.507	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		17	987	0	0	0	1	0	17	987				
LAMA1	284217	broad.mit.edu	37	18	6948455	6948455	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6948455T>C	ENST00000389658.3	-	60	8750	c.8657A>G	c.(8656-8658)tAc>tGc	p.Y2886C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2886					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGCCACTGCGTAGCACCTGTT	0.542																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8656-8658)tAc>tGc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						164.0	108.0	127.0					18																	6948455		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6948455T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8657A>G	18.37:g.6948455T>C	ENSP00000374309:p.Tyr2886Cys						p.Y2886C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			60	8750	-		Colorectal(10;0.172)	2886						Missense_Mutation	SNP	ENST00000389658.3	37	c.8657A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579569	0.28180	.	.	ENSG00000101680	ENST00000389658	T	0.18960	2.18	5.7	3.27	0.37495	Concanavalin A-like lectin/glucanase, subgroup (1);	0.234553	0.36665	N	0.002474	T	0.41305	0.1153	M	0.70595	2.14	0.32520	N	0.536383	D;D	0.76494	0.999;0.999	D;D	0.65684	0.935;0.937	T	0.55211	-0.8176	10	0.72032	D	0.01	.	11.188	0.48669	0.2451:0.0:0.0:0.7549	.	2886;216	P25391;B3KSD8	LAMA1_HUMAN;.	C	2886	ENSP00000374309:Y2886C	ENSP00000374309:Y2886C	Y	-	2	0	LAMA1	6938455	0.993000	0.37304	0.480000	0.27341	0.012000	0.07955	2.448000	0.44926	0.412000	0.25729	-0.444000	0.05651	TAC		0.542	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		43	182	0	0	0	1	0	43	182				
PCDHGA2	56113	broad.mit.edu	37	5	140719676	140719676	+	Missense_Mutation	SNP	G	G	A	rs149474643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719676G>A	ENST00000394576.2	+	1	1138	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAGAACGCATTCACCAC	0.433													g|||	1	0.000199681	0.0	0.0	5008	,	,		19350	0.0		0.001	False		,,,				2504	0.0					ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1138-1140)Gca>Aca									81.0	83.0	82.0					5																	140719676		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719676G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1138G>A	5.37:g.140719676G>A	ENSP00000378077:p.Ala380Thr					PCDHGA1_ENST00000517417.1_Intron	p.A380T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1138	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1138G>A	CCDS47289.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	16.25	3.069835	0.55539	.	.	ENSG00000081853	ENST00000394576	T	0.01838	4.61	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.182113	0.25427	U	0.030741	T	0.05318	0.0141	N	0.16567	0.415	0.36952	D	0.892929	D;D	0.65815	0.995;0.986	P;P	0.59357	0.856;0.804	T	0.53592	-0.8417	10	0.87932	D	0	.	18.0539	0.89358	0.0:0.0:1.0:0.0	.	380;380	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	380	ENSP00000378077:A380T	ENSP00000378077:A380T	A	+	1	0	PCDHGA2	140699860	1.000000	0.71417	0.994000	0.49952	0.020000	0.10135	5.407000	0.66363	2.434000	0.82447	0.462000	0.41574	GCA		0.433	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		72	392	0	0	0	1	0	72	392				
KMT2A	4297	broad.mit.edu	37	11	118355026	118355026	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118355026T>C	ENST00000389506.5	+	9	4215	c.4215T>C	c.(4213-4215)ttT>ttC	p.F1405F	KMT2A_ENST00000534358.1_Silent_p.F1405F|KMT2A_ENST00000354520.4_Silent_p.F1405F|KMT2A_ENST00000420751.2_3'UTR			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1405					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAGTGGACTTTAAGGTAAAGG	0.393																																						ENST00000534358.1																			0											c.(4213-4215)ttT>ttC		lysine (K)-specific methyltransferase 2A							68.0	63.0	65.0					11																	118355026		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118355026T>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4215T>C	11.37:g.118355026T>C						KMT2A_ENST00000354520.4_Silent_p.F1405F|KMT2A_ENST00000389506.5_Silent_p.F1405F|KMT2A_ENST00000420751.2_3'UTR	p.F1405F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					9	4238	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.4215T>C	CCDS31686.1																																																																																				0.393	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		62	232	0	0	0	1	0	62	232				
PRTG	283659	broad.mit.edu	37	15	55964735	55964735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964735C>T	ENST00000389286.4	-	11	1996	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAGCTTGTAGCCCTGAATAGC	0.498																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1948-1950)gGc>gAc		protogenin							119.0	118.0	119.0					15																	55964735		1950	4125	6075	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55964735C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1949G>A	15.37:g.55964735C>T	ENSP00000373937:p.Gly650Asp						p.G650D	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	11	1996	-			650			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1949G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004642	0.93287	.	.	ENSG00000166450	ENST00000389286	T	0.37235	1.21	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.267337	0.42964	D	0.000640	T	0.68787	0.3039	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75439	-0.3317	10	0.72032	D	0.01	-15.1368	18.4581	0.90728	0.0:1.0:0.0:0.0	.	650	Q2VWP7	PRTG_HUMAN	D	650	ENSP00000373937:G650D	ENSP00000373937:G650D	G	-	2	0	PRTG	53752027	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.537000	0.82033	2.591000	0.87537	0.650000	0.86243	GGC		0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		71	283	0	0	0	1	0	71	283				
CSHL1	1444	broad.mit.edu	37	17	61988202	61988202	+	Silent	SNP	G	G	T	rs112072490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61988202G>T	ENST00000309894.5	-	2	92	c.93C>A	c.(91-93)ccC>ccA	p.P31P	CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_Silent_p.P31P|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	31						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GCCTGGATAAGGGAACGGTTT	0.587																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(91-93)ccC>ccA		chorionic somatomammotropin hormone-like 1							57.0	61.0	60.0					17																	61988202		2203	4300	6503	SO:0001819	synonymous_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61988202G>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.93C>A	17.37:g.61988202G>T						CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000309894.5_Silent_p.P31P|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron	p.P31P			Q14406	CSHL_HUMAN			2	154	-			31					D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	c.93C>A	CCDS11652.1																																																																																				0.587	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		93	516	1	0	2.5963e-48	1	3.20365e-48	93	516				
DUOX1	53905	broad.mit.edu	37	15	45455883	45455883	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455883C>A	ENST00000321429.4	+	33	4809	c.4402C>A	c.(4402-4404)Ctg>Atg	p.L1468M	DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M|DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1468					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GACCACTATGCTGGTATGTCA	0.567											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4402-4404)Ctg>Atg		dual oxidase 1							127.0	115.0	119.0					15																	45455883		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455883C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4402C>A	15.37:g.45455883C>A	ENSP00000317997:p.Leu1468Met		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M|DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.L1468M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4809	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1468					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4402C>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094597	0.56075	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95035	-3.59;-3.59	4.36	1.21	0.21127	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000001	D	0.95971	0.8688	M	0.77313	2.365	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.94379	0.7603	10	0.87932	D	0	-13.5525	7.5385	0.27725	0.0:0.674:0.0:0.326	.	1468	Q9NRD9	DUOX1_HUMAN	M	1468	ENSP00000317997:L1468M;ENSP00000373689:L1468M	ENSP00000317997:L1468M	L	+	1	2	DUOX1	43243175	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.069000	0.41481	0.474000	0.27392	0.491000	0.48974	CTG		0.567	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		84	361	1	0	9.34078e-37	1	1.11935e-36	84	361				
BHMT2	23743	broad.mit.edu	37	5	78376548	78376548	+	Missense_Mutation	SNP	G	G	T	rs374403176		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78376548G>T	ENST00000255192.3	+	4	363	c.297G>T	c.(295-297)agG>agT	p.R99S	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	99	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ACCTCGCCAGGGAAGTGGCTG	0.438																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(295-297)agG>agT		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						112.0	115.0	114.0					5																	78376548		2203	4300	6503	SO:0001583	missense	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78376548G>T		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.297G>T	5.37:g.78376548G>T	ENSP00000255192:p.Arg99Ser					DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	p.R99S	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	4	363	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	99			Hcy-binding.		B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	c.297G>T	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088877	0.55968	.	.	ENSG00000132840	ENST00000255192;ENST00000518666	T;T	0.40476	1.03;1.03	6.16	1.31	0.21738	Homocysteine S-methyltransferase (4);	0.151545	0.56097	D	0.000024	T	0.45054	0.1323	M	0.79693	2.465	0.80722	D	1	B	0.31519	0.327	B	0.35607	0.206	T	0.43196	-0.9406	10	0.66056	D	0.02	-7.7479	9.095	0.36634	0.6855:0.0:0.3145:0.0	.	99	Q9H2M3	BHMT2_HUMAN	S	99;39	ENSP00000255192:R99S;ENSP00000428640:R39S	ENSP00000255192:R99S	R	+	3	2	BHMT2	78412304	1.000000	0.71417	0.945000	0.38365	0.881000	0.50899	1.262000	0.32992	0.123000	0.18342	0.650000	0.86243	AGG		0.438	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		121	526	1	0	1.6185e-62	1	2.03999e-62	121	526				
CNTNAP1	8506	broad.mit.edu	37	17	40837321	40837321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40837321G>A	ENST00000264638.4	+	5	815	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	200					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGACGTGTTCGCCTTCAGCTT	0.642																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(598-600)Gcc>Acc		contactin associated protein 1							104.0	87.0	93.0					17																	40837321		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837321G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.598G>A	17.37:g.40837321G>A	ENSP00000264638:p.Ala200Thr					CTD-3193K9.3_ENST00000592440.1_RNA	p.A200T	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	5	815	+		Breast(137;0.000143)	200						Missense_Mutation	SNP	ENST00000264638.4	37	c.598G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480734	0.63849	.	.	ENSG00000108797	ENST00000264638	T	0.78816	-1.21	5.11	4.11	0.48088	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.284951	0.29466	N	0.012079	T	0.62085	0.2399	L	0.29908	0.895	0.38646	D	0.951717	D	0.53312	0.959	B	0.38225	0.268	T	0.63001	-0.6734	10	0.34782	T	0.22	.	9.6221	0.39727	0.0:0.1434:0.6871:0.1696	.	200	P78357	CNTP1_HUMAN	T	200	ENSP00000264638:A200T	ENSP00000264638:A200T	A	+	1	0	CNTNAP1	38090847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.834000	0.55798	1.069000	0.40788	0.561000	0.74099	GCC		0.642	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		93	323	0	0	0	1	0	93	323				
RP11-337C18.8	0	broad.mit.edu	37	1	146649852	146649852	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146649852G>A	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							CGAGTTCTTCGCCCCCTGGTG	0.572																																						ENST00000607149.1																			0																																																			0							g.chr1:146649852G>A																													1.37:g.146649852G>A														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.572	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			146	337	0	0	0	1	0	146	337				
PPP1R27	116729	broad.mit.edu	37	17	79792819	79792819	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79792819C>A	ENST00000330261.4	-	1	90	c.11G>T	c.(10-12)aGa>aTa	p.R4I	FAM195B_ENST00000572645.1_5'Flank|PPP1R27_ENST00000573182.1_5'Flank|FAM195B_ENST00000455127.2_5'Flank|FAM195B_ENST00000576431.1_5'Flank|FAM195B_ENST00000575061.1_5'Flank|FAM195B_ENST00000573478.1_5'Flank|FAM195B_ENST00000538396.1_5'Flank|PPP1R27_ENST00000570394.1_Missense_Mutation_p.R4I	NM_001007533.3	NP_001007534.1	Q86WC6	PPR27_HUMAN	protein phosphatase 1, regulatory subunit 27	4					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCGGGCAGTTCTGCTAGGCAT	0.622																																						ENST00000570394.1																			0											c.(10-12)aGa>aTa		protein phosphatase 1, regulatory subunit 27							21.0	22.0	21.0					17																	79792819		2202	4295	6497	SO:0001583	missense	116729							g.chr17:79792819C>A	AF434846	CCDS32767.1	17q25.3	2013-01-10	2011-10-11	2011-10-11	ENSG00000182676	ENSG00000182676		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	16813	protein-coding gene	gene with protein product			"""dysferlin-interacting protein 1 (toonin)"", ""dysferlin interacting protein 1 (toonin)"", ""dysferlin interacting protein 1"""	DYSFIP1			Standard	NM_001007533		Approved	toonin	uc002kbj.1	Q86WC6		ENST00000330261.4:c.11G>T	17.37:g.79792819C>A	ENSP00000331065:p.Arg4Ile					PPP1R27_ENST00000330261.4_Missense_Mutation_p.R4I	p.R4I			Q86WC6	DYSI1_HUMAN			1	107	-			4						Missense_Mutation	SNP	ENST00000330261.4	37	c.11G>T	CCDS32767.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417275	0.83449	.	.	ENSG00000182676	ENST00000330261	T	0.62639	0.01	4.86	3.85	0.44370	.	0.384765	0.24683	N	0.036441	T	0.39009	0.1062	N	0.08118	0	0.44207	D	0.997034	B	0.26935	0.164	B	0.21917	0.037	T	0.38090	-0.9677	10	0.49607	T	0.09	.	9.9909	0.41870	0.1517:0.7011:0.1473:0.0	.	4	Q86WC6	PPR27_HUMAN	I	4	ENSP00000331065:R4I	ENSP00000331065:R4I	R	-	2	0	DYSFIP1	77386108	0.391000	0.25221	0.988000	0.46212	0.907000	0.53573	0.988000	0.29616	2.251000	0.74343	0.561000	0.74099	AGA		0.622	PPP1R27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439692.1	NM_001007533		18	91	1	0	2.35188e-11	1	2.50879e-11	18	91				
KLK15	55554	broad.mit.edu	37	19	51330304	51330304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330304C>T	ENST00000598239.1	-	3	341	c.311G>A	c.(310-312)cGc>cAc	p.R104H	KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H|KLK15_ENST00000326856.4_Missense_Mutation_p.R103H|KLK15_ENST00000596931.1_Missense_Mutation_p.R103H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GATGTCGTTGCGGTGGCTGCG	0.697																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(307-309)cGc>cAc		kallikrein-related peptidase 15							65.0	58.0	61.0					19																	51330304		2200	4298	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330304C>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.311G>A	19.37:g.51330304C>T	ENSP00000469315:p.Arg104His					KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H|KLK15_ENST00000596931.1_Missense_Mutation_p.R103H|KLK15_ENST00000598239.1_Missense_Mutation_p.R104H	p.R103H	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	437	-		all_neural(266;0.057)	104			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.308G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584354	0.46110	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.88586	-2.4;-2.4	4.39	-8.27	0.01017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.832426	0.10336	N	0.686950	T	0.72095	0.3418	N	0.11673	0.155	0.09310	N	0.999995	B;B;B;B	0.28419	0.097;0.063;0.211;0.208	B;B;B;B	0.30716	0.038;0.032;0.119;0.11	T	0.62581	-0.6824	10	0.59425	D	0.04	.	5.7109	0.17935	0.5217:0.2582:0.0:0.22	.	104;103;104;104	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	104	ENSP00000415136:R104H;ENSP00000301421:R104H	ENSP00000301421:R104H	R	-	2	0	KLK15	56022116	0.014000	0.17966	0.002000	0.10522	0.227000	0.25037	0.169000	0.16641	-1.179000	0.02737	0.555000	0.69702	CGC		0.697	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		25	512	0	0	0	1	0	25	512				
KIFAP3	22920	broad.mit.edu	37	1	169941689	169941689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169941689G>A	ENST00000361580.2	-	17	2175	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.R610*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	650					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGACCTTTCGGATTTCATTA	0.313																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1828-1830)Cga>Tga		kinesin-associated protein 3							57.0	56.0	56.0					1																	169941689		2198	4284	6482	SO:0001587	stop_gained	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169941689G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1948C>T	1.37:g.169941689G>A	ENSP00000354560:p.Arg650*					KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.R650*	p.R610*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			17	3329	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		650					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Nonsense_Mutation	SNP	ENST00000361580.2	37	c.1828C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	40	8.162878	0.98683	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.22	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5189	13.7898	0.63133	0.0:0.0:0.599:0.401	.	.	.	.	X	650;610;606;352;572	.	.	R	-	1	2	KIFAP3	168208313	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.632000	0.46511	0.212000	0.20703	0.555000	0.69702	CGA		0.313	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		6	50	0	0	0	1	0	6	50				
ECEL1	9427	broad.mit.edu	37	2	233346501	233346501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346501C>T	ENST00000304546.1	-	13	2065	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	619					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCCAGTCGTCGTAGCCGTGG	0.667																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1855-1857)Gac>Aac		endothelin converting enzyme-like 1							83.0	76.0	78.0					2																	233346501		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346501C>T	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1855G>A	2.37:g.233346501C>T	ENSP00000302051:p.Asp619Asn					ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	p.D619N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	13	2065	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	619					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1855G>A	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304761	0.95601	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.89939	-2.59;-2.59;-2.59	5.54	5.54	0.83059	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.049237	0.85682	D	0.000000	D	0.97216	0.9090	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.98643	1.0676	10	0.87932	D	0	-5.4806	19.5428	0.95281	0.0:1.0:0.0:0.0	.	617;619	O95672-2;O95672	.;ECEL1_HUMAN	N	34;619;617	ENSP00000412683:D34N;ENSP00000302051:D619N;ENSP00000386333:D617N	ENSP00000302051:D619N	D	-	1	0	ECEL1	233054745	1.000000	0.71417	0.921000	0.36526	0.925000	0.55904	7.704000	0.84595	2.615000	0.88500	0.558000	0.71614	GAC		0.667	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		130	417	0	0	0	1	0	130	417				
PAPSS2	9060	broad.mit.edu	37	10	89487110	89487110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89487110G>A	ENST00000361175.4	+	8	1304	c.935G>A	c.(934-936)gGg>gAg	p.G312E	PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E|PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGGCTGGAAGGGTGCAGCAAG	0.512																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(934-936)gGg>gAg		3'-phosphoadenosine 5'-phosphosulfate synthase 2							138.0	109.0	119.0					10																	89487110		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89487110G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.935G>A	10.37:g.89487110G>A	ENSP00000354436:p.Gly312Glu					PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E	p.G312E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	8	1304	+		Melanoma(5;0.019)|Colorectal(252;0.123)	312					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.935G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018327	0.35606	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.19394	2.15;2.15;2.15	5.74	4.74	0.60224	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.136189	0.64402	N	0.000002	T	0.16128	0.0388	L	0.39020	1.185	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.21151	0.033;0.003	T	0.06826	-1.0805	10	0.16420	T	0.52	-21.1853	10.3775	0.44090	0.1616:0.0:0.8384:0.0	.	312;317	O95340;O95340-2	PAPS2_HUMAN;.	E	312;317;316;316	ENSP00000354436:G312E;ENSP00000406157:G317E;ENSP00000397123:G316E	ENSP00000354436:G312E	G	+	2	0	PAPSS2	89477090	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	4.538000	0.60650	1.259000	0.44117	0.561000	0.74099	GGG		0.512	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			53	254	0	0	0	1	0	53	254				
MARCH2	51257	broad.mit.edu	37	19	8495681	8495681	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8495681G>A	ENST00000602117.1	+	4	967	c.512G>A	c.(511-513)aGc>aAc	p.S171N	MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	171					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGCTCCACAGCCAGCTGGAG	0.637																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(511-513)aGc>aAc		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							79.0	60.0	66.0					19																	8495681		2202	4300	6502	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8495681G>A	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.512G>A	19.37:g.8495681G>A	ENSP00000471536:p.Ser171Asn					MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N|MARCH2_ENST00000381035.4_Intron	p.S171N			Q9P0N8	MARH2_HUMAN			4	967	+			171					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.512G>A	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988397	0.53934	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.18960	2.18;2.18	4.26	4.26	0.50523	.	0.204126	0.49305	D	0.000147	T	0.27559	0.0677	M	0.68952	2.095	0.80722	D	1	D	0.53151	0.958	P	0.45343	0.477	T	0.07366	-1.0776	10	0.22706	T	0.39	-29.9527	15.7466	0.77949	0.0:0.0:1.0:0.0	.	171	Q9P0N8	MARH2_HUMAN	N	171	ENSP00000377518:S171N;ENSP00000215555:S171N	ENSP00000215555:S171N	S	+	2	0	MARCH2	8401681	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.745000	0.85046	2.364000	0.80123	0.448000	0.29417	AGC		0.637	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		42	200	0	0	0	1	0	42	200				
ATP11A	23250	broad.mit.edu	37	13	113496682	113496682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113496682C>T	ENST00000487903.1	+	17	1886	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C|ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C|ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	600					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAGAGTGGAGCGTAACGCAGT	0.532																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1798-1800)Cgt>Tgt		ATPase, class VI, type 11A							56.0	48.0	51.0					13																	113496682		2201	4297	6498	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113496682C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1798C>T	13.37:g.113496682C>T	ENSP00000420387:p.Arg600Cys					ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C|ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C|ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C	p.R600C			P98196	AT11A_HUMAN			17	1886	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	600					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1798C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588287	0.66105	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.9	4.9	0.64082	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.241555	0.46758	D	0.000275	D	0.86435	0.5932	L	0.43598	1.365	0.80722	D	1	D;P;P	0.69078	0.997;0.951;0.918	P;P;P	0.58077	0.832;0.773;0.67	D	0.88191	0.2877	10	0.87932	D	0	.	18.4568	0.90724	0.0:1.0:0.0:0.0	.	600;600;600	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	C	600;600;600;600;41	ENSP00000420387:R600C;ENSP00000364781:R600C;ENSP00000364796:R600C;ENSP00000283558:R600C	ENSP00000283558:R600C	R	+	1	0	ATP11A	112544683	1.000000	0.71417	0.994000	0.49952	0.102000	0.19082	7.093000	0.76937	2.421000	0.82119	0.563000	0.77884	CGT		0.532	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		14	41	0	0	0	1	0	14	41				
LCE1C	353133	broad.mit.edu	37	1	152777708	152777708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777708G>A	ENST00000607093.1	-	1	246	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_ENST00000368768.1_Missense_Mutation_p.R83C			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGACCTACGGCGCCTGTGG	0.701																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(247-249)Cgt>Tgt		late cornified envelope 1C							28.0	36.0	33.0					1																	152777708		2201	4286	6487	SO:0001583	missense	353133				keratinization			g.chr1:152777708G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.247C>T	1.37:g.152777708G>A	ENSP00000475270:p.Arg83Cys					LCE1C_ENST00000607093.1_Missense_Mutation_p.R83C	p.R83C	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	297	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.247C>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.023866	0.02061	.	.	ENSG00000197084	ENST00000368768	T	0.04406	3.63	3.16	1.01	0.19927	.	0.314770	0.14807	N	0.297281	T	0.01976	0.0062	M	0.66939	2.045	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39099	-0.9630	10	0.87932	D	0	.	3.3949	0.07302	0.1428:0.0:0.607:0.2503	.	83	Q5T751	LCE1C_HUMAN	C	83	ENSP00000357757:R83C	ENSP00000357757:R83C	R	-	1	0	LCE1C	151044332	0.048000	0.20356	0.197000	0.23402	0.030000	0.12068	1.863000	0.39459	0.659000	0.30945	-0.137000	0.14449	CGT		0.701	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		97	499	0	0	0	1	0	97	499				
ARMCX2	9823	broad.mit.edu	37	X	100911224	100911224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911224C>T	ENST00000328766.5	-	5	1804	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	451						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTATTCATGGCCATTAAGGCT	0.413																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1351-1353)Gcc>Acc		armadillo repeat containing, X-linked 2							130.0	122.0	124.0					X																	100911224		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911224C>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1351G>A	X.37:g.100911224C>T	ENSP00000331662:p.Ala451Thr					ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T	p.A451T	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1804	-			451					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1351G>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945747	0.53079	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.58060	0.36;0.36;0.36	3.87	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.110754	0.64402	D	0.000008	T	0.54431	0.1858	L	0.48362	1.52	0.43798	D	0.996347	P	0.46457	0.878	P	0.54210	0.745	T	0.47114	-0.9142	10	0.25106	T	0.35	-2.7442	10.2206	0.43194	0.0:1.0:0.0:0.0	.	451	Q7L311	ARMX2_HUMAN	T	451	ENSP00000331662:A451T;ENSP00000328631:A451T;ENSP00000349281:A451T	ENSP00000331662:A451T	A	-	1	0	ARMCX2	100797880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.075000	0.41538	2.167000	0.68274	0.422000	0.28245	GCC		0.413	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		139	400	0	0	0	1	0	139	400				
SUGP2	10147	broad.mit.edu	37	19	19129997	19129997	+	Missense_Mutation	SNP	C	C	T	rs368135990		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19129997C>T	ENST00000601879.1	-	4	2068	c.1771G>A	c.(1771-1773)Gac>Aac	p.D591N	SUGP2_ENST00000456085.2_Missense_Mutation_p.D360N|SUGP2_ENST00000452918.2_Missense_Mutation_p.D591N|SUGP2_ENST00000337018.6_Missense_Mutation_p.D591N|SUGP2_ENST00000600377.1_Missense_Mutation_p.D605N			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	591					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACAAGCTGGTCGATGGTGCCC	0.517																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1771-1773)Gac>Aac		SURP and G patch domain containing 2							99.0	83.0	88.0					19																	19129997		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19129997C>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1771G>A	19.37:g.19129997C>T	ENSP00000472286:p.Asp591Asn					SUGP2_ENST00000337018.6_Missense_Mutation_p.D591N|SUGP2_ENST00000456085.2_Missense_Mutation_p.D360N|SUGP2_ENST00000600377.1_Missense_Mutation_p.D605N|SUGP2_ENST00000452918.2_Missense_Mutation_p.D591N	p.D591N			Q8IX01	SUGP2_HUMAN			4	2068	-			591					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.1771G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712747	0.30413	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.59	4.56	0.56223	SWAP/Surp (1);	0.357866	0.26959	N	0.021622	T	0.35068	0.0919	L	0.27053	0.805	0.30034	N	0.813201	B;B;B	0.25719	0.132;0.044;0.018	B;B;B	0.22386	0.039;0.027;0.018	T	0.40572	-0.9556	10	0.87932	D	0	-11.2567	11.5267	0.50584	0.0:0.9163:0.0:0.0837	.	360;591;591	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	N	591;591;591;360	ENSP00000337926:D591N;ENSP00000332373:D591N;ENSP00000389380:D591N;ENSP00000409603:D360N	ENSP00000332373:D591N	D	-	1	0	SUGP2	18990997	0.987000	0.35691	0.869000	0.34112	0.027000	0.11550	2.858000	0.48356	1.368000	0.46115	0.655000	0.94253	GAC		0.517	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		32	197	0	0	0	1	0	32	197				
SIPA1	6494	broad.mit.edu	37	11	65408725	65408725	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408725T>C	ENST00000394224.3	+	2	629	c.333T>C	c.(331-333)ctT>ctC	p.L111L	SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000527525.1_Silent_p.L111L|SIPA1_ENST00000534313.1_Silent_p.L111L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	111					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACCAGTGCTTGAGCCTCGAT	0.632																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(331-333)ctT>ctC		signal-induced proliferation-associated 1							79.0	80.0	80.0					11																	65408725		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408725T>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.333T>C	11.37:g.65408725T>C						SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000534313.1_Silent_p.L111L|SIPA1_ENST00000527525.1_Silent_p.L111L	p.L111L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	629	+			111					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.333T>C	CCDS8108.1																																																																																				0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		26	740	0	0	0	1	0	26	740				
CASZ1	54897	broad.mit.edu	37	1	10720073	10720073	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10720073C>T	ENST00000377022.3	-	6	1343	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.E342E	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	342					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTTGACATTCTCCAGGTCGT	0.587																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1024-1026)gaG>gaA		castor zinc finger 1							81.0	85.0	83.0					1																	10720073		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720073C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1026G>A	1.37:g.10720073C>T						CASZ1_ENST00000344008.5_Silent_p.E342E	p.E342E	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1343	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	342					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.1026G>A	CCDS41246.1																																																																																				0.587	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		164	575	0	0	0	1	0	164	575				
RIF1	55183	broad.mit.edu	37	2	152322075	152322075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322075C>T	ENST00000243326.5	+	29	6524	c.6041C>T	c.(6040-6042)aCg>aTg	p.T2014M	RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M|RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTGAAGAAACGAATACCAAA	0.398																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6040-6042)aCg>aTg		RAP1 interacting factor homolog (yeast)							61.0	59.0	60.0					2																	152322075		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322075C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6041C>T	2.37:g.152322075C>T	ENSP00000243326:p.Thr2014Met					RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M|RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M	p.T2014M			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6524	+			2014			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6041C>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	4.859	0.159683	0.09287	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.12	1.5	0.22942	.	1.526730	0.03207	N	0.175587	T	0.03305	0.0096	N	0.01352	-0.895	0.18873	N	0.999982	B;B	0.15719	0.008;0.014	B;B	0.08055	0.001;0.003	T	0.34403	-0.9830	10	0.33940	T	0.23	0.8415	4.687	0.12762	0.0:0.1799:0.1638:0.6563	.	2014;2014	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	M	2014	ENSP00000390181:T2014M;ENSP00000414615:T2014M;ENSP00000415691:T2014M;ENSP00000243326:T2014M;ENSP00000416123:T2014M	ENSP00000243326:T2014M	T	+	2	0	RIF1	152030321	0.005000	0.15991	0.010000	0.14722	0.003000	0.03518	0.278000	0.18753	0.106000	0.17784	-0.312000	0.09012	ACG		0.398	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			29	160	0	0	0	1	0	29	160				
F10	2159	broad.mit.edu	37	13	113803648	113803648	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803648G>T	ENST00000375559.3	+	8	1322	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	428	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CCCGCTTCAAGGACACCTACT	0.612																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1282-1284)aaG>aaT		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						73.0	75.0	74.0					13																	113803648		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803648G>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1284G>T	13.37:g.113803648G>T	ENSP00000364709:p.Lys428Asn					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.K428N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1322	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	428			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1284G>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	6.471	0.454987	0.12283	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	5.38	2.51	0.30379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.513361	0.22091	N	0.064756	T	0.79311	0.4424	N	0.02103	-0.685	0.29479	N	0.856484	B	0.31274	0.317	B	0.40285	0.325	T	0.72836	-0.4172	10	0.72032	D	0.01	.	1.5405	0.02554	0.2537:0.1415:0.4593:0.1455	.	428	P00742	FA10_HUMAN	N	428	ENSP00000364709:K428N	ENSP00000364709:K428N	K	+	3	2	F10	112851649	0.934000	0.31675	0.083000	0.20561	0.005000	0.04900	0.753000	0.26376	0.177000	0.19895	-0.175000	0.13238	AAG		0.612	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			22	434	1	0	8.04996e-18	1	8.90737e-18	22	434				
CEP72	55722	broad.mit.edu	37	5	639260	639260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:639260G>A	ENST00000264935.5	+	8	1353	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	421					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGCAGGCGGCGCTCCTGGAGA	0.642																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1261-1263)gcG>gcA		centrosomal protein 72kDa							36.0	43.0	41.0					5																	639260		2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:639260G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1263G>A	5.37:g.639260G>A						CEP72_ENST00000444221.1_3'UTR	p.A421A	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		8	1353	+			421					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1263G>A	CCDS34126.1																																																																																				0.642	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		18	422	0	0	0	1	0	18	422				
MROH9	80133	broad.mit.edu	37	1	170965707	170965707	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:170965707T>C	ENST00000367758.3	+	14	1496	c.1397T>C	c.(1396-1398)aTt>aCt	p.I466T	MROH9_ENST00000367759.4_Missense_Mutation_p.I466T	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	466																	CAGGTGGATATTACTCTAATG	0.448																																						ENST00000367759.4																			0											c.(1396-1398)aTt>aCt		maestro heat-like repeat family member 9							178.0	170.0	172.0					1																	170965707		1876	4111	5987	SO:0001583	missense	80133							g.chr1:170965707T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1397T>C	1.37:g.170965707T>C	ENSP00000356732:p.Ile466Thr					MROH9_ENST00000367758.3_Missense_Mutation_p.I466T	p.I466T	NM_001163629.1	NP_001157101.1					14	1551	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1397T>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	4.605	0.112402	0.08831	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.12984	4.32;2.63	5.75	-11.5	0.00074	.	2.917160	0.00639	N	0.000512	T	0.01905	0.0060	N	0.25647	0.755	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.08055	0.003;0.003	T	0.19386	-1.0307	10	0.19147	T	0.46	5.379	8.5234	0.33291	0.1652:0.5609:0.1613:0.1125	.	466;466	F5GWX6;Q5TGP6	.;CA129_HUMAN	T	466	ENSP00000356733:I466T;ENSP00000356732:I466T	ENSP00000356732:I466T	I	+	2	0	C1orf129	169232331	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.968000	0.00165	-2.614000	0.00443	-0.250000	0.11733	ATT		0.448	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		22	665	0	0	0	1	0	22	665				
EPHA7	2045	broad.mit.edu	37	6	94124474	94124474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:94124474C>T	ENST00000369303.4	-	2	293	c.109G>A	c.(109-111)Gat>Aat	p.D37N	EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	37	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTTAGAATCCAGCAGTAGT	0.318																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(109-111)Gat>Aat		EPH receptor A7							90.0	87.0	88.0					6																	94124474		2203	4298	6501	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94124474C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.109G>A	6.37:g.94124474C>T	ENSP00000358309:p.Asp37Asn					EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	p.D37N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	2	293	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	37					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.109G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578356	0.65878	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.12879	2.64;2.64	5.67	5.67	0.87782	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.100727	0.64402	D	0.000006	T	0.11965	0.0291	L	0.47716	1.5	0.80722	D	1	B;B;P;P	0.39443	0.008;0.078;0.623;0.674	B;B;B;B	0.42827	0.007;0.055;0.278;0.399	T	0.01030	-1.1475	10	0.72032	D	0.01	.	17.5467	0.87864	0.0:1.0:0.0:0.0	.	37;37;37;37	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	37	ENSP00000358309:D37N;ENSP00000358303:D37N	ENSP00000358303:D37N	D	-	1	0	EPHA7	94181195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.691000	0.68249	2.672000	0.90937	0.555000	0.69702	GAT		0.318	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			20	152	0	0	0	1	0	20	152				
EXOC3L1	283849	broad.mit.edu	37	16	67221403	67221403	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67221403G>T	ENST00000314586.6	-	5	1005	c.765C>A	c.(763-765)ggC>ggA	p.G255G	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	255	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCTGCTCCAGGCCCTCCTGTA	0.687																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(763-765)ggC>ggA		exocyst complex component 3-like 1							18.0	24.0	22.0					16																	67221403		2193	4287	6480	SO:0001819	synonymous_variant	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221403G>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.765C>A	16.37:g.67221403G>T						EXOC3L1_ENST00000562887.1_Intron	p.G255G	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			5	1005	-			255			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	c.765C>A	CCDS10832.1																																																																																				0.687	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		25	214	1	0	1.55469e-16	1	1.70887e-16	25	214				
HLA-DMB	3109	broad.mit.edu	37	6	32903416	32903416	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32903416G>T	ENST00000418107.2	-	4	898	c.636C>A	c.(634-636)tcC>tcA	p.S212S	AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	212	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTGCATGGGGGACAGCCCAG	0.537																																						ENST00000418107.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(634-636)tcC>tcA		major histocompatibility complex, class II, DM beta							46.0	53.0	50.0					6																	32903416		1510	2707	4217	SO:0001819	synonymous_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32903416G>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.636C>A	6.37:g.32903416G>T							p.S212S	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN			4	898	-			212			Connecting peptide (Potential).		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000418107.2	37	c.636C>A	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969380	0.18659	.	.	ENSG00000242574	ENST00000414017	.	.	.	4.81	-1.08	0.09936	.	.	.	.	.	T	0.33440	0.0863	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	.	4.9558	0.14038	0.4117:0.1638:0.4244:0.0	.	.	.	.	T	102	.	.	P	-	1	0	HLA-DMB	33011394	0.010000	0.17322	0.741000	0.31004	0.990000	0.78478	-1.280000	0.02804	-0.154000	0.11118	0.448000	0.29417	CCC		0.537	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		8	296	1	0	1.12685e-05	1	1.15515e-05	8	296				
REPIN1	29803	broad.mit.edu	37	7	150068940	150068940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068940C>A	ENST00000425389.2	+	1	688	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	REPIN1_ENST00000397281.2_Missense_Mutation_p.L204M|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	204					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTGAGGCCCTGGAGGAGGC	0.741																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(610-612)Ctg>Atg		replication initiator 1							8.0	10.0	9.0					7																	150068940		1812	4036	5848	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068940C>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.610C>A	7.37:g.150068940C>A	ENSP00000388287:p.Leu204Met					REPIN1_ENST00000425389.2_Missense_Mutation_p.L204M|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA	p.L204M	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1099	+	Ovarian(565;0.183)|Melanoma(164;0.226)		204					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.610C>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919909	0.33908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.08720	3.09;3.09;3.09;3.06;3.4;3.2;3.09	5.08	2.25	0.28309	Zinc finger, C2H2 (1);	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.09310	N	0.999994	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.23691	-1.0181	9	0.87932	D	0	-10.3479	5.9616	0.19303	0.0:0.6793:0.0:0.3207	.	261;204	C9J3L7;Q9BWE0	.;REPI1_HUMAN	M	204;204;204;261;263;264;204	ENSP00000445016:L204M;ENSP00000380451:L204M;ENSP00000407714:L204M;ENSP00000417291:L261M;ENSP00000419789:L263M;ENSP00000419872:L264M;ENSP00000388287:L204M	ENSP00000380451:L204M	L	+	1	2	REPIN1	149699873	.	.	0.962000	0.40283	0.697000	0.40408	.	.	0.521000	0.28445	0.462000	0.41574	CTG		0.741	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		21	77	1	0	1.01871e-10	1	1.082e-10	21	77				
GCAT	23464	broad.mit.edu	37	22	38208974	38208974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38208974C>T	ENST00000248924.6	+	3	464	c.408C>T	c.(406-408)gaC>gaT	p.D136D	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000323205.6_Silent_p.D162D	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	136					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GCTGTTATGACGCCAACGCCG	0.567																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(484-486)gaC>gaT		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						86.0	77.0	80.0					22																	38208974		2203	4300	6503	SO:0001819	synonymous_variant	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38208974C>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.408C>T	22.37:g.38208974C>T						GCAT_ENST00000248924.6_Silent_p.D136D|GCAT_ENST00000415371.1_3'UTR	p.D162D	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			3	549	+	Melanoma(58;0.045)		136					E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	ENST00000248924.6	37	c.486C>T	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	C	4.950	0.176494	0.09443	.	.	ENSG00000100116	ENST00000451984	.	.	.	5.73	1.01	0.19927	.	.	.	.	.	T	0.56963	0.2021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49466	-0.8937	4	.	.	.	-19.321	8.9862	0.35994	0.0:0.2989:0.0:0.7011	.	.	.	.	M	121	.	.	T	+	2	0	GCAT	36538920	1.000000	0.71417	0.998000	0.56505	0.464000	0.32679	0.826000	0.27407	0.112000	0.17975	-0.290000	0.09829	ACG		0.567	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		67	346	0	0	0	1	0	67	346				
RTF1	23168	broad.mit.edu	37	15	41745191	41745191	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41745191C>A	ENST00000389629.4	+	3	414	c.402C>A	c.(400-402)gcC>gcA	p.A134A	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	134					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACAAAACTGCCTCCTCAGGCA	0.463																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(400-402)gcC>gcA		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							79.0	74.0	76.0					15																	41745191		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41745191C>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.402C>A	15.37:g.41745191C>A						RTF1_ENST00000462276.1_3'UTR	p.A134A	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	3	414	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	134					Q96BX6	Silent	SNP	ENST00000389629.4	37	c.402C>A	CCDS32200.2																																																																																				0.463	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		44	157	1	0	5.20006e-24	1	5.93142e-24	44	157				
MAPRE1	22919	broad.mit.edu	37	20	31434492	31434492	+	Silent	SNP	G	G	A	rs139716054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31434492G>A	ENST00000375571.5	+	6	805	c.666G>A	c.(664-666)cgG>cgA	p.R222R	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	222	APC-binding.|DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GAAAGCTACGGAACATTGAAT	0.423																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(664-666)cgG>cgA		microtubule-associated protein, RP/EB family, member 1							181.0	171.0	174.0					20																	31434492		2203	4300	6503	SO:0001819	synonymous_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31434492G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.666G>A	20.37:g.31434492G>A						RP5-1085F17.4_ENST00000565572.1_RNA	p.R222R	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			6	805	+			222			APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.		B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	37	c.666G>A	CCDS13208.1																																																																																				0.423	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		165	704	0	0	0	1	0	165	704				
HOXC5	3222	broad.mit.edu	37	12	54426931	54426931	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54426931T>G	ENST00000312492.2	+	1	295	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	9					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGCCAATTCATTCTATAAGCA	0.493											OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312492.2																			0				cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(25-27)Ttc>Gtc		homeobox C5							57.0	60.0	59.0					12																	54426931		2203	4300	6503	SO:0001583	missense	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54426931T>G		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.25T>G	12.37:g.54426931T>G	ENSP00000309336:p.Phe9Val		OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	p.F9V	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN			1	295	+			9						Missense_Mutation	SNP	ENST00000312492.2	37	c.25T>G	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845311	0.51164	.	.	ENSG00000172789	ENST00000312492	D	0.91068	-2.78	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000094	D	0.88872	0.6555	M	0.76727	2.345	0.80722	D	1	P	0.47409	0.895	B	0.38056	0.264	D	0.88733	0.3238	10	0.36615	T	0.2	.	14.3258	0.66518	0.0:0.0:0.0:1.0	.	9	Q00444	HXC5_HUMAN	V	9	ENSP00000309336:F9V	ENSP00000309336:F9V	F	+	1	0	HOXC5	52713198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.182000	0.58310	2.209000	0.71365	0.533000	0.62120	TTC		0.493	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1			19	329	0	0	0	1	0	19	329				
HEATR1	55127	broad.mit.edu	37	1	236749565	236749565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236749565G>T	ENST00000366582.3	-	15	2017	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T	HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	635					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTAATAGAGGGTGCAGGGAG	0.308																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1903-1905)Cct>Act		HEAT repeat containing 1							40.0	42.0	41.0					1																	236749565		2202	4300	6502	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236749565G>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1903C>A	1.37:g.236749565G>T	ENSP00000355541:p.Pro635Thr					HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	p.P635T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		15	2017	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	635					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1903C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615465	0.66672	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.62105	0.05;0.05	5.42	4.51	0.55191	Armadillo-type fold (1);	0.103033	0.64402	D	0.000002	T	0.75443	0.3850	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74890	-0.3510	10	0.35671	T	0.21	.	14.2206	0.65823	0.0721:0.0:0.9279:0.0	.	635	Q9H583	HEAT1_HUMAN	T	635	ENSP00000355541:P635T;ENSP00000355540:P635T	ENSP00000355540:P635T	P	-	1	0	HEATR1	234816188	1.000000	0.71417	0.504000	0.27639	0.963000	0.63663	5.780000	0.68956	1.423000	0.47198	0.563000	0.77884	CCT		0.308	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		40	221	1	0	2.66277e-13	1	2.87267e-13	40	221				
KIAA0368	23392	broad.mit.edu	37	9	114134091	114134091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114134091C>T	ENST00000338205.5	-	42	4766	c.4547G>A	c.(4546-4548)cGa>cAa	p.R1516Q	KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1694Q|KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	1522					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAGGTATAATCGAATGCCACC	0.383																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(5080-5082)cGa>cAa		KIAA0368							70.0	67.0	68.0					9																	114134091		1828	4076	5904	SO:0001583	missense	23392							g.chr9:114134091C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4547G>A	9.37:g.114134091C>T	ENSP00000339889:p.Arg1516Gln					KIAA0368_ENST00000338205.5_Missense_Mutation_p.R1516Q|KIAA0368_ENST00000374378.3_5'UTR	p.R1694Q	NM_001080398.1	NP_001073867.1					44	5080	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.5081G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.312779	0.95655	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.50277	0.75	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.78049	2.395	0.80722	D	1	D	0.56521	0.976	P	0.52514	0.701	T	0.67348	-0.5693	10	0.56958	D	0.05	.	19.9064	0.97008	0.0:1.0:0.0:0.0	.	991	B3KXF2	.	Q	1516;1694;991	ENSP00000259335:R1694Q	ENSP00000259335:R1694Q	R	-	2	0	KIAA0368	113173912	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.487000	0.81328	2.693000	0.91896	0.655000	0.94253	CGA		0.383	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		66	309	0	0	0	1	0	66	309				
DUS1L	64118	broad.mit.edu	37	17	80019817	80019817	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80019817G>T	ENST00000354321.7	-	5	1038	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	185							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCACCCGACAGGGGCCCCTTC	0.657																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(553-555)Ctg>Atg		dihydrouridine synthase 1-like (S. cerevisiae)							114.0	104.0	108.0					17																	80019817		2203	4300	6503	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019817G>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.553C>A	17.37:g.80019817G>T	ENSP00000346280:p.Leu185Met					DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M	p.L185M			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		5	1038	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		185					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.553C>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072704	0.20147	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.29655	1.56;1.56;1.56	4.08	-1.31	0.09230	Aldolase-type TIM barrel (1);	0.288040	0.33650	N	0.004681	T	0.26629	0.0651	M	0.65498	2.005	0.38905	D	0.957412	B;B;B	0.28760	0.058;0.005;0.221	B;B;B	0.33846	0.171;0.09;0.152	T	0.03739	-1.1008	10	0.34782	T	0.22	-10.5432	4.7951	0.13269	0.2839:0.0:0.5745:0.1416	.	58;185;54	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	M	185;185;58;53	ENSP00000346280:L185M;ENSP00000303515:L185M;ENSP00000445110:L53M	ENSP00000303515:L185M	L	-	1	2	DUS1L	77613106	0.953000	0.32496	0.350000	0.25708	0.706000	0.40770	1.464000	0.35288	-0.360000	0.08138	0.551000	0.68910	CTG		0.657	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		88	569	1	0	4.25105e-50	1	5.26406e-50	88	569				
LMBR1	64327	broad.mit.edu	37	7	156589187	156589187	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156589187C>A	ENST00000353442.5	-	5	556		c.e5-1		LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000540390.1_Splice_Site|LMBR1_ENST00000354505.4_Splice_Site	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1						embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTCCACAAACCTATAAAAAGG	0.313																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.e5-1		limb development membrane protein 1							44.0	40.0	42.0					7																	156589187		2203	4300	6503	SO:0001630	splice_region_variant	64327					integral to membrane	receptor activity	g.chr7:156589187C>A	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.320-1G>T	7.37:g.156589187C>A						LMBR1_ENST00000354505.4_Splice_Site|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000540390.1_Splice_Site		NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	5	556	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)						A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Splice_Site	SNP	ENST00000353442.5	37		CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771340	0.49680	.	.	ENSG00000105983	ENST00000353442;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0087	0.89217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBR1	156281948	1.000000	0.71417	0.990000	0.47175	0.790000	0.44656	7.064000	0.76721	2.326000	0.78906	0.485000	0.47835	.		0.313	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458	Intron	12	50	1	0	0.00010058	1	0.000102273	12	50				
PTPN14	5784	broad.mit.edu	37	1	214546067	214546067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214546067A>G	ENST00000366956.5	-	16	3217	c.3023T>C	c.(3022-3024)gTc>gCc	p.V1008A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1008	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCTGCAGTGACCATGGCAAT	0.572																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3022-3024)gTc>gCc		protein tyrosine phosphatase, non-receptor type 14							156.0	138.0	144.0					1																	214546067		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214546067A>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3023T>C	1.37:g.214546067A>G	ENSP00000355923:p.Val1008Ala					PTPN14_ENST00000543945.1_3'UTR	p.V1008A	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	16	3217	-			1008			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.3023T>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012882	0.75161	.	.	ENSG00000152104	ENST00000366956	T	0.14266	2.52	5.4	5.4	0.78164	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.063634	0.64402	D	0.000007	T	0.31136	0.0787	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.01532	-1.1331	10	0.62326	D	0.03	.	15.716	0.77670	1.0:0.0:0.0:0.0	.	1008	Q15678	PTN14_HUMAN	A	1008	ENSP00000355923:V1008A	ENSP00000355923:V1008A	V	-	2	0	PTPN14	212612690	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.097000	0.94193	2.167000	0.68274	0.528000	0.53228	GTC		0.572	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		119	555	0	0	0	1	0	119	555				
ZNF700	90592	broad.mit.edu	37	19	12060148	12060148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12060148G>A	ENST00000254321.5	+	4	1452	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	ZNF700_ENST00000482090.1_Missense_Mutation_p.G419S|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCGAGTGCACGGTGGGACTCA	0.483																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1255-1257)Ggt>Agt		zinc finger protein 700							89.0	81.0	84.0					19																	12060148		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060148G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1309G>A	19.37:g.12060148G>A	ENSP00000254321:p.Gly437Ser					ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G437S|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.G419S			Q9H0M5	ZN700_HUMAN			3	1673	+			437					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1255G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	7.306	0.614090	0.14066	.	.	ENSG00000196757	ENST00000254321	T	0.35236	1.32	0.527	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12603	0.0306	N	0.02539	-0.55	0.09310	N	1	P	0.38729	0.644	B	0.36289	0.221	T	0.13575	-1.0504	9	0.66056	D	0.02	.	3.5455	0.07827	0.2333:0.4453:0.3214:0.0	.	437	Q9H0M5	ZN700_HUMAN	S	437	ENSP00000254321:G437S	ENSP00000254321:G437S	G	+	1	0	ZNF700	11921148	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.369000	0.07533	-0.421000	0.07416	-1.098000	0.02139	GGT		0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		9	421	0	0	0	1	0	9	421				
KMT2C	58508	broad.mit.edu	37	7	151878356	151878356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878356G>A	ENST00000262189.6	-	36	6807	c.6589C>T	c.(6589-6591)Cag>Tag	p.Q2197*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2197*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2197	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q2197*(1)									GAATGCCTCTGATTTGTTACA	0.488																																						ENST00000355193.2																			1	Substitution - Nonsense(1)	p.Q2197*(1)	central_nervous_system(1)								c.(6589-6591)Cag>Tag		lysine (K)-specific methyltransferase 2C							101.0	94.0	97.0					7																	151878356		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151878356G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6589C>T	7.37:g.151878356G>A	ENSP00000262189:p.Gln2197*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2197*	p.Q2197*							36	6807	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.6589C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	47	13.240273	0.99729	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.37	5.37	0.77165	.	0.165964	0.28109	N	0.016568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	19.4763	0.94991	0.0:0.0:1.0:0.0	.	.	.	.	X	2197	.	ENSP00000262189:Q2197X	Q	-	1	0	MLL3	151509289	1.000000	0.71417	0.701000	0.30321	0.278000	0.26855	5.413000	0.66399	2.677000	0.91161	0.655000	0.94253	CAG		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	280	0	0	0	1	0	9	280				
RP11-252A24.2	0	broad.mit.edu	37	16	74384519	74384519	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74384519C>T	ENST00000429810.2	-	0	932																											ACCTACCTGGCCAGCACAGTT	0.398																																						ENST00000429810.2																			0																																																			0							g.chr16:74384519C>T																													16.37:g.74384519C>T														0	932	-									RNA	SNP	ENST00000429810.2	37			.	.	.	.	.	.	.	.	.	.	C	10.18	1.280382	0.23392	.	.	ENSG00000214331	ENST00000429810	.	.	.	3.38	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	.	.	.	.	.	.	.	.	.	.	.	.	T	0.82824	-0.0266	5	0.87932	D	0	.	15.3503	0.74380	0.0:1.0:0.0:0.0	.	.	.	.	D	242	.	ENSP00000393936:G242D	G	-	2	0	AC009053.1	72942020	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.039000	0.76544	1.913000	0.55393	0.430000	0.28490	GGC		0.398	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			15	93	0	0	0	1	0	15	93				
RNF43	54894	broad.mit.edu	37	17	56440681	56440681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56440681G>A	ENST00000584437.1	-	4	2492	c.537C>T	c.(535-537)aaC>aaT	p.N179N	RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000577716.1_Silent_p.N179N|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Silent_p.N52N|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000583753.1_Silent_p.N138N|RNF43_ENST00000577625.1_Silent_p.N52N			Q68DV7	RNF43_HUMAN	ring finger protein 43	179					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCCTTTTGGTTCTTGTACA	0.567																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(535-537)aaC>aaT		ring finger protein 43							130.0	128.0	128.0					17																	56440681		2203	4300	6503	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56440681G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.537C>T	17.37:g.56440681G>A						RNF43_ENST00000581868.1_Silent_p.N52N|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.N179N|RNF43_ENST00000577625.1_Silent_p.N52N|RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000583753.1_Silent_p.N138N	p.N179N			Q68DV7	RNF43_HUMAN			4	2492	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		179					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.537C>T	CCDS11607.1																																																																																				0.567	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		94	401	0	0	0	1	0	94	401				
BRMS1	25855	broad.mit.edu	37	11	66109606	66109606	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66109606G>A	ENST00000359957.3	-	2	260	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	34					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGCCGCTCCGCTCCTCCTCA	0.567																																					GBM(7;55 307 2662 20856 28942)	ENST00000359957.3																			0				large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						c.(100-102)Cgg>Tgg		breast cancer metastasis suppressor 1							159.0	121.0	134.0					11																	66109606		2200	4295	6495	SO:0001583	missense	25855				apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	g.chr11:66109606G>A	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.100C>T	11.37:g.66109606G>A	ENSP00000353042:p.Arg34Trp					BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W	p.R34W	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN			2	260	-			34					Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	c.100C>T	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031453	0.75504	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.49	4.49	0.54785	.	0.435802	0.22217	N	0.063014	T	0.38639	0.1048	L	0.36672	1.1	0.31392	N	0.677761	D;D	0.67145	0.979;0.996	B;P	0.47573	0.183;0.55	T	0.50808	-0.8784	9	0.87932	D	0	-21.9512	11.0319	0.47779	0.0:0.1891:0.8109:0.0	.	34;34	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	W	34	.	ENSP00000353042:R34W	R	-	1	2	BRMS1	65866182	0.865000	0.29922	0.991000	0.47740	0.987000	0.75469	3.129000	0.50500	2.234000	0.73211	0.591000	0.81541	CGG		0.567	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		30	312	0	0	0	1	0	30	312				
MYO18B	84700	broad.mit.edu	37	22	26399271	26399271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26399271G>A	ENST00000407587.2	+	41	6500	c.6331G>A	c.(6331-6333)Gag>Aag	p.E2111K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2110K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2110						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E2111Q(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGCCGAAAAGAGATGTAAGT	0.542																																						ENST00000335473.7																			1	Substitution - Missense(1)	p.E2111Q(1)	skin(1)	NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6328-6330)Gag>Aag		myosin XVIIIB							56.0	64.0	62.0					22																	26399271		1993	4159	6152	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26399271G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6331G>A	22.37:g.26399271G>A	ENSP00000386096:p.Glu2111Lys					MYO18B_ENST00000407587.2_Missense_Mutation_p.E2111K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K	p.E2110K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			41	6578	+			2110					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6328G>A		.	.	.	.	.	.	.	.	.	.	G	16.06	3.015121	0.54468	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86694	-2.14;-2.14;-2.16	4.29	4.29	0.51040	.	0.334578	0.25094	N	0.033186	D	0.89808	0.6822	L	0.57536	1.79	0.35715	D	0.816692	P;P;P;D	0.64830	0.827;0.956;0.932;0.994	P;P;P;P	0.59056	0.52;0.572;0.655;0.851	D	0.91894	0.5526	10	0.54805	T	0.06	.	12.548	0.56212	0.0:0.0:1.0:0.0	.	1623;2110;2111;2110	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	2110;2110;2111	ENSP00000441229:E2110K;ENSP00000334563:E2110K;ENSP00000386096:E2111K	ENSP00000334563:E2110K	E	+	1	0	MYO18B	24729271	1.000000	0.71417	0.996000	0.52242	0.299000	0.27559	3.817000	0.55668	2.683000	0.91414	0.557000	0.71058	GAG		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		14	52	0	0	0	1	0	14	52				
FMN1	342184	broad.mit.edu	37	15	33261570	33261570	+	Nonsense_Mutation	SNP	G	G	A	rs202224266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261570G>A	ENST00000559047.1	-	5	2331	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*|FMN1_ENST00000334528.9_Nonsense_Mutation_p.R555*|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	778	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAACCCCCTCGCCATCTGTGT	0.483													g|||	1	0.000199681	0.0	0.0	5008	,	,		16763	0.0		0.001	False		,,,				2504	0.0					ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1663-1665)Cga>Tga		formin 1							245.0	229.0	234.0					15																	33261570		1958	4161	6119	SO:0001587	stop_gained	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261570G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2332C>T	15.37:g.33261570G>A	ENSP00000454047:p.Arg778*					FMN1_ENST00000559047.1_Nonsense_Mutation_p.R778*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*	p.R555*	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1662	-		all_lung(180;1.14e-07)	778			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Nonsense_Mutation	SNP	ENST00000559047.1	37	c.1663C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.662893	0.88251	.	.	ENSG00000248905	ENST00000334528	.	.	.	4.51	3.52	0.40303	.	0.305463	0.34133	N	0.004233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6005	0.17351	0.1035:0.0:0.5508:0.3457	.	.	.	.	X	555	.	ENSP00000333950:R555X	R	-	1	2	FMN1	31048862	0.010000	0.17322	0.799000	0.32177	0.098000	0.18820	0.546000	0.23284	2.339000	0.79563	0.555000	0.69702	CGA		0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		227	959	0	0	0	1	0	227	959				
GFRA3	2676	broad.mit.edu	37	5	137593567	137593567	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137593567G>A	ENST00000274721.3	-	4	792	c.546C>T	c.(544-546)taC>taT	p.Y182Y	GFRA3_ENST00000378362.3_Silent_p.Y151Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	182					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCTCCCCGTAGGCCTTGC	0.652																																						ENST00000274721.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(544-546)taC>taT		GDNF family receptor alpha 3							29.0	31.0	30.0					5																	137593567		2203	4300	6503	SO:0001819	synonymous_variant	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137593567G>A	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.546C>T	5.37:g.137593567G>A						GFRA3_ENST00000378362.3_Silent_p.Y151Y	p.Y182Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	792	-			182					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	c.546C>T	CCDS4201.1																																																																																				0.652	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		36	246	0	0	0	1	0	36	246				
LDLRAD2	401944	broad.mit.edu	37	1	22140961	22140961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140961G>A	ENST00000344642.2	+	2	343	c.156G>A	c.(154-156)tcG>tcA	p.S52S	LDLRAD2_ENST00000543870.1_Silent_p.S52S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	52						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACGCCGCATCGCGCAGGTTCT	0.706																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(154-156)tcG>tcA		low density lipoprotein receptor class A domain containing 2							17.0	21.0	20.0					1																	22140961		2189	4283	6472	SO:0001819	synonymous_variant	401944					integral to membrane	receptor activity	g.chr1:22140961G>A	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.156G>A	1.37:g.22140961G>A						LDLRAD2_ENST00000543870.1_Silent_p.S52S	p.S52S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	343	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	52					B9EJB3|Q6ZSN5	Silent	SNP	ENST00000344642.2	37	c.156G>A	CCDS30624.1																																																																																				0.706	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		59	183	0	0	0	1	0	59	183				
TEC	7006	broad.mit.edu	37	4	48151572	48151572	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48151572A>G	ENST00000381501.3	-	11	1164		c.e11+1		TEC_ENST00000511471.2_Splice_Site	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CAGCTCACTTACCTGCTGCAT	0.333																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.e11+1		tec protein tyrosine kinase							149.0	142.0	144.0					4																	48151572		2203	4300	6503	SO:0001630	splice_region_variant	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48151572A>G	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1006+1T>C	4.37:g.48151572A>G						TEC_ENST00000511471.2_Splice_Site		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			11	1164	-								B7ZKZ6|Q3MIS5	Splice_Site	SNP	ENST00000381501.3	37		CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311049	0.40895	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEC	47846329	1.000000	0.71417	0.981000	0.43875	0.135000	0.20990	9.307000	0.96226	2.227000	0.72691	0.460000	0.39030	.		0.333	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3		Intron	46	234	0	0	0	1	0	46	234				
CASD1	64921	broad.mit.edu	37	7	94184895	94184895	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94184895T>C	ENST00000297273.4	+	18	2506	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	740						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AACATCATTGTCAGCACTTTC	0.388																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2218-2220)gTc>gCc		CAS1 domain containing 1							103.0	92.0	96.0					7																	94184895		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94184895T>C	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2219T>C	7.37:g.94184895T>C	ENSP00000297273:p.Val740Ala						p.V740A	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	2506	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		740					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.2219T>C	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697164	0.48202	.	.	ENSG00000127995	ENST00000297273	T	0.52754	0.65	5.29	4.14	0.48551	.	0.115568	0.64402	N	0.000017	T	0.49406	0.1555	M	0.78049	2.395	0.49389	D	0.999789	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.51332	-0.8719	10	0.87932	D	0	.	11.1885	0.48671	0.0:0.0728:0.0:0.9272	.	740;740	Q8WZ77;Q96PB1	.;CASD1_HUMAN	A	740	ENSP00000297273:V740A	ENSP00000297273:V740A	V	+	2	0	CASD1	94022831	1.000000	0.71417	0.999000	0.59377	0.442000	0.32017	6.114000	0.71560	0.970000	0.38263	-0.333000	0.08304	GTC		0.388	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		55	260	0	0	0	1	0	55	260				
UNC45B	146862	broad.mit.edu	37	17	33495095	33495095	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495095C>A	ENST00000268876.5	+	10	1264	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	UNC45B_ENST00000394570.2_Silent_p.P389P|UNC45B_ENST00000433649.1_Silent_p.P389P|UNC45B_ENST00000591048.1_Silent_p.P389P|UNC45B_ENST00000378449.1_Silent_p.P389P|RP11-799D4.3_ENST00000585646.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	389					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGTTTGACCCCCAGGACATGG	0.517																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1165-1167)ccC>ccA		unc-45 homolog B (C. elegans)							66.0	60.0	62.0					17																	33495095		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495095C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1167C>A	17.37:g.33495095C>A						UNC45B_ENST00000591048.1_Silent_p.P389P|UNC45B_ENST00000378449.1_Silent_p.P389P|UNC45B_ENST00000394570.2_Silent_p.P389P|UNC45B_ENST00000433649.1_Silent_p.P389P	p.P389P	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1264	+		Ovarian(249;0.17)	389					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1167C>A	CCDS11292.1																																																																																				0.517	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		37	198	1	0	1.04594e-18	1	1.16214e-18	37	198				
PRKCSH	5589	broad.mit.edu	37	19	11560084	11560084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11560084C>T	ENST00000589838.1	+	16	1444	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000252455.2_Missense_Mutation_p.R482C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	482					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCCCCAGGTGCGCCTCCTGTG	0.692																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1444-1446)Cgc>Tgc		protein kinase C substrate 80K-H							51.0	46.0	48.0					19																	11560084		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11560084C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1444C>T	19.37:g.11560084C>T	ENSP00000465461:p.Arg482Cys					PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000589838.1_Missense_Mutation_p.R482C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C	p.R482C	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			17	1780	+			482					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1444C>T	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921617	0.52653	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.77229	-1.08;-1.08	3.46	2.3	0.28687	Mannose-6-phosphate receptor, binding (1);	0.293432	0.28493	N	0.015158	T	0.80292	0.4596	L	0.52011	1.625	0.44762	D	0.997761	D;D;D;D	0.89917	1.0;1.0;0.99;1.0	D;D;P;D	0.65874	0.939;0.939;0.86;0.939	T	0.77608	-0.2524	10	0.38643	T	0.18	-25.7659	8.2518	0.31730	0.4322:0.5678:0.0:0.0	.	489;489;479;482	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	C	482;479	ENSP00000252455:R482C;ENSP00000395616:R479C	ENSP00000252455:R482C	R	+	1	0	PRKCSH	11421084	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.509000	0.45459	1.928000	0.55862	0.563000	0.77884	CGC		0.692	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			78	405	0	0	0	1	0	78	405				
SASH1	23328	broad.mit.edu	37	6	148865907	148865907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865907C>A	ENST00000367467.3	+	18	3776	c.3301C>A	c.(3301-3303)Ctg>Atg	p.L1101M		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1101					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGAAAACAAGCTGCACGCTGA	0.557																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3301-3303)Ctg>Atg		SAM and SH3 domain containing 1							34.0	34.0	34.0					6																	148865907		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865907C>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3301C>A	6.37:g.148865907C>A	ENSP00000356437:p.Leu1101Met						p.L1101M	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3776	+		Ovarian(120;0.0169)	1101					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3301C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622732	0.46840	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.59906	0.23	5.11	0.216	0.15258	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.20986	0.625	0.33179	D	0.549298	D;D	0.53312	0.959;0.959	P;P	0.47744	0.556;0.556	T	0.12760	-1.0535	10	0.51188	T	0.08	-9.1589	6.814	0.23820	0.1209:0.5368:0.0:0.3422	.	1082;1101	Q6P4R9;O94885	.;SASH1_HUMAN	M	1101;511	ENSP00000356437:L1101M	ENSP00000356437:L1101M	L	+	1	2	SASH1	148907600	0.996000	0.38824	0.481000	0.27354	0.759000	0.43091	0.410000	0.21098	0.107000	0.17824	0.655000	0.94253	CTG		0.557	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		11	46	1	0	4.84862e-15	1	5.28562e-15	11	46				
IRX1	79192	broad.mit.edu	37	5	3599698	3599698	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599698C>T	ENST00000302006.3	+	2	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	212					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCGAGGGCGACCCGGAGA	0.627																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(634-636)ggC>ggT		iroquois homeobox 1							66.0	60.0	62.0					5																	3599698		2203	4300	6503	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599698C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.636C>T	5.37:g.3599698C>T						CTD-2012M11.3_ENST00000559410.1_RNA	p.G212G	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	688	+			212					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.636C>T	CCDS34132.1																																																																																				0.627	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		13	291	0	0	0	1	0	13	291				
PCNX	22990	broad.mit.edu	37	14	71543085	71543085	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71543085C>A	ENST00000304743.2	+	28	5732	c.5286C>A	c.(5284-5286)ttC>ttA	p.F1762L	PCNX_ENST00000439984.3_Missense_Mutation_p.F1651L|PCNX_ENST00000238570.5_Missense_Mutation_p.F1690L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1762						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGAGAGTTTCTGTGTGATTT	0.418																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(5284-5286)ttC>ttA		pecanex homolog (Drosophila)							119.0	108.0	112.0					14																	71543085		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71543085C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5286C>A	14.37:g.71543085C>A	ENSP00000304192:p.Phe1762Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.F1651L|PCNX_ENST00000238570.5_Missense_Mutation_p.F1690L	p.F1762L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	28	5732	+			1762					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5286C>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765764|4.765764	0.90020|0.90020	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.23950|.	2.13;2.34;1.88|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70168|0.70168	0.3193|0.3193	M|M	0.86268|0.86268	2.805|2.805	0.31272|0.31272	N|N	0.691596|0.691596	D;D;D|.	0.58268|.	0.974;0.972;0.982|.	D;P;D|.	0.70487|.	0.969;0.689;0.952|.	T|T	0.74368|0.74368	-0.3688|-0.3688	10|5	0.51188|.	T|.	0.08|.	.|.	13.3761|13.3761	0.60739|0.60739	0.0:0.9247:0.0:0.0753|0.0:0.9247:0.0:0.0753	.|.	1690;1651;1762|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|Y	1762;1690;1651|749	ENSP00000304192:F1762L;ENSP00000238570:F1690L;ENSP00000396617:F1651L|.	ENSP00000238570:F1690L|.	F|S	+|+	3|2	2|0	PCNX|PCNX	70612838|70612838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.355000|2.355000	0.44107|0.44107	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		10	363	1	0	0.010729	1	0.0107869	10	363				
DNAJC5	80331	broad.mit.edu	37	20	62560765	62560765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560765G>A	ENST00000360864.4	+	3	361	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	70	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTCACGGACGCCACAAAAAG	0.557																																						ENST00000360864.4																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5						c.(208-210)Gcc>Acc		DnaJ (Hsp40) homolog, subfamily C, member 5							159.0	123.0	135.0					20																	62560765		2203	4300	6503	SO:0001583	missense	80331				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr20:62560765G>A		CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.208G>A	20.37:g.62560765G>A	ENSP00000354111:p.Ala70Thr					DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	p.A70T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN			3	361	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		70			J.		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	37	c.208G>A	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974454	0.53720	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.29917	1.55;1.55	5.4	4.44	0.53790	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.051899	0.85682	D	0.000000	T	0.21590	0.0520	N	0.17278	0.47	0.37425	D	0.913797	B;B	0.19583	0.014;0.037	B;B	0.13407	0.005;0.009	T	0.06588	-1.0818	10	0.41790	T	0.15	.	16.0043	0.80349	0.0:0.0:0.8645:0.1355	.	70;70	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	70	ENSP00000358927:A70T;ENSP00000354111:A70T	ENSP00000354111:A70T	A	+	1	0	DNAJC5	62031209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.856000	0.55964	1.409000	0.46915	0.650000	0.86243	GCC		0.557	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		85	374	0	0	0	1	0	85	374				
SFMBT2	57713	broad.mit.edu	37	10	7326106	7326106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7326106G>A	ENST00000361972.4	-	6	622	c.532C>T	c.(532-534)Cga>Tga	p.R178*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	178					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R178*(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTTTCCCTCGCAGAGGCTGT	0.368																																						ENST00000361972.4																			2	Substitution - Nonsense(2)	p.R178*(2)	skin(2)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(532-534)Cga>Tga		Scm-like with four mbt domains 2							63.0	63.0	63.0					10																	7326106		2202	4298	6500	SO:0001587	stop_gained	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7326106G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.532C>T	10.37:g.7326106G>A	ENSP00000355109:p.Arg178*					SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	p.R178*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			6	622	-			178					A7MD09|Q9HCF5	Nonsense_Mutation	SNP	ENST00000361972.4	37	c.532C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353451	0.82243	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	4.45	4.45	0.53987	.	0.063541	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	17.4436	0.87572	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000355109:R178X	R	-	1	2	SFMBT2	7366112	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.897000	0.56273	2.195000	0.70347	0.431000	0.28591	CGA		0.368	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		51	410	0	0	0	1	0	51	410				
ZC3H12C	85463	broad.mit.edu	37	11	110035963	110035963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110035963G>A	ENST00000278590.3	+	6	2204	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R687Q|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R719Q	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	718							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTGGGCGCCCGGTCCAGCTGT	0.592																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2059-2061)cGg>cAg		zinc finger CCCH-type containing 12C							141.0	161.0	154.0					11																	110035963		2144	4233	6377	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035963G>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2153G>A	11.37:g.110035963G>A	ENSP00000278590:p.Arg718Gln					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R719Q|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R718Q	p.R687Q			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2941	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	718					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2060G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909367	0.92107	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.37584	1.19;1.19;1.21	5.94	5.94	0.96194	.	0.249928	0.40144	N	0.001167	T	0.60932	0.2307	M	0.68593	2.085	0.43703	D	0.996161	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.978;0.978;0.978	T	0.55617	-0.8113	10	0.44086	T	0.13	-20.721	20.3591	0.98849	0.0:0.0:1.0:0.0	.	719;718;718	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	Q	718;719;687	ENSP00000278590:R718Q;ENSP00000431821:R719Q;ENSP00000413094:R687Q	ENSP00000278590:R718Q	R	+	2	0	ZC3H12C	109541173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.331000	0.72929	2.816000	0.96949	0.561000	0.74099	CGG		0.592	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		239	1018	0	0	0	1	0	239	1018				
ASIC5	51802	broad.mit.edu	37	4	156764950	156764950	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156764950G>A	ENST00000537611.2	-	5	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	248					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CAGCATCAACGAAACCAAGGG	0.413																																						ENST00000537611.2																			0											c.(742-744)ttC>ttT		acid-sensing (proton-gated) ion channel family member 5							122.0	100.0	108.0					4																	156764950		2203	4300	6503	SO:0001819	synonymous_variant	51802					integral to membrane|plasma membrane		g.chr4:156764950G>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.744C>T	4.37:g.156764950G>A							p.F248F	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			5	790	-			248						Silent	SNP	ENST00000537611.2	37	c.744C>T	CCDS3793.1																																																																																				0.413	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			69	223	0	0	0	1	0	69	223				
GPR124	25960	broad.mit.edu	37	8	37702272	37702272	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702272C>T	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Silent_p.G332G|GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTTCTCCTTGCCCCTGTCCCC	0.617																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(994-996)ggG>ggA		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							42.0	40.0	41.0					8																	37702272		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702272C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702272C>T						GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	p.G332G	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1116	-		Lung NSC(58;0.118)|all_lung(54;0.195)	332					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.996G>A	CCDS6097.2																																																																																				0.617	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			56	193	0	0	0	1	0	56	193				
COG1	9382	broad.mit.edu	37	17	71197321	71197321	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71197321T>G	ENST00000299886.4	+	7	1435	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	452					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCAGGAACTTGAAAGCAGC	0.463																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1354-1356)cTt>cGt		component of oligomeric golgi complex 1							119.0	115.0	117.0					17																	71197321		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71197321T>G		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1355T>G	17.37:g.71197321T>G	ENSP00000299886:p.Leu452Arg						p.L452R	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		7	1435	+			452					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1355T>G	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368777	0.24771	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.30182	1.54;1.54	5.28	4.17	0.49024	.	0.126983	0.53938	N	0.000047	T	0.52853	0.1760	M	0.77616	2.38	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.959;0.981;0.959	T	0.50931	-0.8769	10	0.29301	T	0.29	-13.324	12.3305	0.55038	0.0:0.0:0.1416:0.8584	.	452;452;452	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	R	452	ENSP00000400111:L452R;ENSP00000299886:L452R	ENSP00000299886:L452R	L	+	2	0	COG1	68708916	1.000000	0.71417	0.116000	0.21606	0.749000	0.42624	7.457000	0.80775	0.906000	0.36621	0.533000	0.62120	CTT		0.463	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			117	516	0	0	0	1	0	117	516				
FAT3	120114	broad.mit.edu	37	11	92258078	92258078	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92258078A>G	ENST00000298047.6	+	2	3588	c.3571A>G	c.(3571-3573)Aat>Gat	p.N1191D	FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D|FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D|FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1191	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAAGTGGAAATCCTCAGAA	0.383										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3571-3573)Aat>Gat		FAT atypical cadherin 3							43.0	43.0	43.0					11																	92258078		1843	4098	5941	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92258078A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3571A>G	11.37:g.92258078A>G	ENSP00000298047:p.Asn1191Asp	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D|FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D|FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D	p.N1191D			Q8TDW7	FAT3_HUMAN			2	3588	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1191			Cadherin 11.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3571A>G		.	.	.	.	.	.	.	.	.	.	A	26.8	4.774069	0.90108	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.53	5.53	0.82687	.	.	.	.	.	T	0.63367	0.2505	L	0.49513	1.565	0.54753	D	0.99998	D	0.76494	0.999	D	0.85130	0.997	T	0.62732	-0.6792	9	0.44086	T	0.13	.	15.6674	0.77242	1.0:0.0:0.0:0.0	.	1191	Q8TDW7-3	.	D	1191;1191;1191;1041	ENSP00000298047:N1191D;ENSP00000387040:N1191D;ENSP00000443786:N1191D;ENSP00000432586:N1041D	ENSP00000298047:N1191D	N	+	1	0	FAT3	91897726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.262000	0.95591	2.112000	0.64535	0.455000	0.32223	AAT		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		39	174	0	0	0	1	0	39	174				
SEMA6A	57556	broad.mit.edu	37	5	115814375	115814375	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115814375C>A	ENST00000343348.6	-	13	2077	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G430G|SEMA6A_ENST00000282394.6_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.G430G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	430	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGATATGGCCCAGCAGCTG	0.413																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1288-1290)ggG>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							79.0	76.0	77.0					5																	115814375		1897	4113	6010	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115814375C>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1290G>T	5.37:g.115814375C>A						SEMA6A_ENST00000510263.1_Silent_p.G430G|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G430G|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	p.G430G	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	13	2077	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	430			Sema.		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.1290G>T	CCDS47256.1																																																																																				0.413	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		23	127	1	0	2.98393e-07	1	3.0958e-07	23	127				
LY6E	4061	broad.mit.edu	37	8	144102804	144102804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144102804C>T	ENST00000520466.1	+	4	529	c.126C>T	c.(124-126)tcC>tcT	p.S42S	LY6E_ENST00000521003.1_Silent_p.S42S|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000517503.1_Nonsense_Mutation_p.R137*|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000519546.1_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000522024.1_Silent_p.S42S|LY6E_ENST00000519611.1_Silent_p.S42S|RP11-273G15.2_ENST00000502167.2_lincRNA			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	42	UPAR/Ly6.				adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCATCTGCTCCGACCAGGACA	0.597																																						ENST00000517503.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7						c.(409-411)Cga>Tga		lymphocyte antigen 6 complex, locus E							139.0	118.0	125.0					8																	144102804		2203	4300	6503	SO:0001819	synonymous_variant	4061				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane		g.chr8:144102804C>T	U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"""retinoic acid induced gene E"""	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000520466.1:c.126C>T	8.37:g.144102804C>T						LY6E_ENST00000519546.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000519611.1_Silent_p.S42S|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000522024.1_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000520466.1_Silent_p.S42S|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000521003.1_Silent_p.S42S	p.R137*			Q16553	LY6E_HUMAN			3	444	+	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		0					B2R4X5|D3DWJ2|Q0VDE5	Nonsense_Mutation	SNP	ENST00000520466.1	37	c.409C>T	CCDS6394.1	.	.	.	.	.	.	.	.	.	.	c	8.332	0.826660	0.16749	.	.	ENSG00000160932	ENST00000522528;ENST00000521182	.	.	.	3.49	-6.98	0.01611	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.6254	0.8457	0.01161	0.2107:0.1548:0.3134:0.3211	.	.	.	.	X	31	.	ENSP00000430770:R31X	R	+	1	2	LY6E	144174179	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.481000	0.00456	-2.749000	0.00375	-0.793000	0.03317	CGA		0.597	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	NM_001127213		19	341	0	0	0	1	0	19	341				
SYNE1	23345	broad.mit.edu	37	6	152658135	152658135	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152658135G>A	ENST00000367255.5	-	76	12970	c.12369C>T	c.(12367-12369)gtC>gtT	p.V4123V	SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000423061.1_Silent_p.V4052V|SYNE1_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000265368.4_Silent_p.V4123V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4123					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGGGCCTGGACAAGCTTTT	0.423										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12367-12369)gtC>gtT		spectrin repeat containing, nuclear envelope 1							64.0	59.0	60.0					6																	152658135		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152658135G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12369C>T	6.37:g.152658135G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000265368.4_Silent_p.V4123V|SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000423061.1_Silent_p.V4052V	p.V4123V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	76	12970	-		Ovarian(120;0.0955)	4123					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.12369C>T	CCDS5236.2																																																																																				0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	152	0	0	0	1	0	32	152				
TH	7054	broad.mit.edu	37	11	2186913	2186913	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2186913G>T	ENST00000381178.1	-	12	1296	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	TH_ENST00000352909.3_Silent_p.S395S|TH_ENST00000381175.1_Silent_p.S422S|TH_ENST00000333684.5_Silent_p.S305S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	426					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCCCGTAGGAGGACAGCA	0.677																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(1276-1278)tcC>tcA		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						57.0	55.0	56.0					11																	2186913		2199	4297	6496	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2186913G>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1278C>A	11.37:g.2186913G>T						TH_ENST00000381175.1_Silent_p.S422S|TH_ENST00000333684.5_Silent_p.S305S|TH_ENST00000352909.3_Silent_p.S395S	p.S426S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	12	1296	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	426					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.1278C>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	3.918	-0.018787	0.07681	.	.	ENSG00000180176	ENST00000412076	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	T	0.60971	0.2310	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59473	-0.7448	4	.	.	.	5.293	10.8905	0.46992	0.0:0.0:0.812:0.188	.	.	.	.	I	115	.	.	L	-	1	2	TH	2143489	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	1.446000	0.35090	1.970000	0.57323	0.491000	0.48974	CTA		0.677	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		27	145	1	0	4.59853e-10	1	4.86106e-10	27	145				
NOTCH2NL	388677	broad.mit.edu	37	1	145273391	145273391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145273391G>A	ENST00000369340.3	+	4	689	c.245G>A	c.(244-246)tGc>tAc	p.C82Y	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C82Y|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C82Y|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C82Y			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	82	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GGCGGCACATGCCATATGCTC	0.527																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(244-246)tGc>tAc		notch 2 N-terminal like							368.0	340.0	350.0					1																	145273391		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273391G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.245G>A	1.37:g.145273391G>A	ENSP00000358346:p.Cys82Tyr					NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C82Y|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C82Y|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C82Y	p.C82Y			Q7Z3S9	NT2NL_HUMAN			4	689	+			82			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.245G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679545	0.47886	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.99992	-12.4;-12.4;-12.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99994	0.9999	H	0.97240	3.965	0.43036	D	0.99461	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.99895	1.1145	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	82;82	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	Y	82	ENSP00000354929:C82Y;ENSP00000344557:C82Y;ENSP00000358346:C82Y	ENSP00000344557:C82Y	C	+	2	0	NOTCH2NL	143984748	1.000000	0.71417	0.996000	0.52242	0.391000	0.30476	8.043000	0.89432	1.532000	0.49169	0.394000	0.25966	TGC		0.527	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		83	2199	0	0	0	1	0	83	2199				
PIH1D1	55011	broad.mit.edu	37	19	49952887	49952887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49952887G>A	ENST00000262265.5	-	3	417	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	61					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CTTCCCTTCCGAGGAGTTGGT	0.542																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(181-183)tCg>tTg		PIH1 domain containing 1							123.0	109.0	114.0					19																	49952887		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49952887G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.182C>T	19.37:g.49952887G>A	ENSP00000262265:p.Ser61Leu					PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L	p.S61L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	3	417	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	61					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.182C>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418996	0.25552	.	.	ENSG00000104872	ENST00000262265	T	0.16743	2.32	5.19	4.16	0.48862	.	0.562942	0.18438	N	0.141225	T	0.15565	0.0375	L	0.40543	1.245	0.09310	N	1	D;B	0.53462	0.96;0.044	B;B	0.43916	0.436;0.017	T	0.08680	-1.0710	10	0.32370	T	0.25	-2.1746	9.7784	0.40634	0.0949:0.0:0.9051:0.0	.	61;61	B4DGN7;Q9NWS0	.;PIHD1_HUMAN	L	61	ENSP00000262265:S61L	ENSP00000262265:S61L	S	-	2	0	PIH1D1	54644699	0.024000	0.19004	0.002000	0.10522	0.302000	0.27658	2.235000	0.43044	1.199000	0.43173	0.561000	0.74099	TCG		0.542	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		41	186	0	0	0	1	0	41	186				
MED17	9440	broad.mit.edu	37	11	93540697	93540697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93540697C>T	ENST00000251871.3	+	10	1767	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	494					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATTCAACTGCAATTGAATAT	0.323																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(1480-1482)Caa>Taa		mediator complex subunit 17							116.0	113.0	114.0					11																	93540697		2201	4298	6499	SO:0001587	stop_gained	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93540697C>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1480C>T	11.37:g.93540697C>T	ENSP00000251871:p.Gln494*					MED17_ENST00000533367.1_3'UTR	p.Q494*	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			10	1767	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	494					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Nonsense_Mutation	SNP	ENST00000251871.3	37	c.1480C>T	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	C	41	8.783231	0.98952	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.875	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	494;464	.	ENSP00000251871:Q494X	Q	+	1	0	MED17	93180345	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.617000	0.83032	2.873000	0.98535	0.563000	0.77884	CAA		0.323	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		9	311	0	0	0	1	0	9	311				
PCSK7	9159	broad.mit.edu	37	11	117077055	117077055	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117077055G>A	ENST00000320934.3	-	17	2646	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	672					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGGTGAAACAGCCTACCAGCA	0.527			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(2014-2016)ggC>ggT		proprotein convertase subtilisin/kexin type 7							42.0	50.0	47.0					11																	117077055		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117077055G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2016C>T	11.37:g.117077055G>A						PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	p.G672G	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	17	2646	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	672					B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.2016C>T	CCDS8382.1																																																																																				0.527	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		14	394	0	0	0	1	0	14	394				
PRKDC	5591	broad.mit.edu	37	8	48691356	48691356	+	Missense_Mutation	SNP	C	C	T	rs568709506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691356C>T	ENST00000314191.2	-	83	11637	c.11581G>A	c.(11581-11583)Gct>Act	p.A3861T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3862	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTACGATTAGCGCCCCTATGA	0.323								Non-homologous end-joining					C|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11581-11583)Gct>Act	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							36.0	33.0	34.0					8																	48691356		1817	4071	5888	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48691356C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11581G>A	8.37:g.48691356C>T	ENSP00000313420:p.Ala3861Thr					PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830T|PRKDC_ENST00000523565.1_5'UTR	p.A3861T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			83	11637	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3862			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11581G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.096850	0.76870	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.76186	4.19;-1.0	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.105878	0.64402	D	0.000004	D	0.84795	0.5551	M	0.80746	2.51	0.80722	D	1	D;D	0.65815	0.979;0.995	P;P	0.58391	0.709;0.838	D	0.86556	0.1838	10	0.59425	D	0.04	.	17.203	0.86911	0.0:1.0:0.0:0.0	.	3830;3862	E7EUY0;P78527	.;PRKDC_HUMAN	T	3861;3830	ENSP00000313420:A3861T;ENSP00000345182:A3830T	ENSP00000313420:A3861T	A	-	1	0	PRKDC	48853909	1.000000	0.71417	0.797000	0.32132	0.207000	0.24258	6.278000	0.72614	2.487000	0.83934	0.561000	0.74099	GCT		0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		11	84	0	0	0	1	0	11	84				
ARID3A	1820	broad.mit.edu	37	19	964313	964313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:964313C>A	ENST00000263620.3	+	5	1159	c.832C>A	c.(832-834)Ctg>Atg	p.L278M		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	278	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGTACGTGCTGGTGACGGA	0.617																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(832-834)Ctg>Atg		AT rich interactive domain 3A (BRIGHT-like)							154.0	117.0	129.0					19																	964313		2203	4300	6503	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964313C>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.832C>A	19.37:g.964313C>A	ENSP00000263620:p.Leu278Met						p.L278M	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1159	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	278			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.832C>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578725	0.65878	.	.	ENSG00000116017	ENST00000263620	T	0.68025	-0.3	4.5	3.2	0.36748	ARID/BRIGHT DNA-binding domain (5);	0.152498	0.45361	D	0.000380	T	0.79423	0.4443	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.81448	-0.0928	10	0.72032	D	0.01	-15.9204	10.6806	0.45813	0.0:0.8824:0.0:0.1176	.	278	Q99856	ARI3A_HUMAN	M	278	ENSP00000263620:L278M	ENSP00000263620:L278M	L	+	1	2	ARID3A	915313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.605000	0.61119	2.061000	0.61500	0.561000	0.74099	CTG		0.617	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		38	177	1	0	1.07121e-22	1	1.21384e-22	38	177				
ITPR3	3710	broad.mit.edu	37	6	33663516	33663516	+	Missense_Mutation	SNP	C	C	T	rs138851075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33663516C>T	ENST00000374316.5	+	59	9035	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	SBP1_ENST00000594414.1_5'Flank|MIR3934_ENST00000579806.1_RNA|ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2659					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACGCAGGCAACGCCTAGGCTT	0.602																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(7975-7977)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor, type 3		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	132.0	114.0	120.0		7975	3.5	0.8	6	dbSNP_134	120	0,8600		0,0,4300	no	missense	ITPR3	NM_002224.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2659/2672	33663516	1,13005	2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33663516C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7975C>T	6.37:g.33663516C>T	ENSP00000363435:p.Arg2659Cys					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C	p.R2659C			Q14573	ITPR3_HUMAN			59	9035	+			2659					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7975C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111247	0.77210	2.27E-4	0.0	ENSG00000096433	ENST00000374316	D	0.95980	-3.87	5.43	3.49	0.39957	.	0.106304	0.64402	D	0.000015	D	0.97340	0.9130	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97884	1.0293	10	0.87932	D	0	-29.3951	12.1209	0.53891	0.5423:0.4577:0.0:0.0	.	2659	Q14573	ITPR3_HUMAN	C	2659	ENSP00000363435:R2659C	ENSP00000363435:R2659C	R	+	1	0	ITPR3	33771494	0.594000	0.26849	0.820000	0.32676	0.980000	0.70556	1.012000	0.29924	1.268000	0.44264	0.561000	0.74099	CGC		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		109	491	0	0	0	1	0	109	491				
TRPC5	7224	broad.mit.edu	37	X	111090508	111090508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111090508G>A	ENST00000262839.2	-	6	2452	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	512					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAGCATGCGTCCCAAAGAG	0.443																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1534-1536)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 5							154.0	138.0	143.0					X																	111090508		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090508G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1534C>T	X.37:g.111090508G>A	ENSP00000262839:p.Arg512Cys						p.R512C	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			6	2452	-			512					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1534C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429090	0.62844	.	.	ENSG00000072315	ENST00000262839	D	0.98747	-5.11	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.99537	1.0962	10	0.62326	D	0.03	-12.7276	13.2903	0.60267	0.0:0.0:0.8419:0.1581	.	513;512	Q59G51;Q9UL62	.;TRPC5_HUMAN	C	512	ENSP00000262839:R512C	ENSP00000262839:R512C	R	-	1	0	TRPC5	110977164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.799000	0.55529	2.261000	0.74972	0.436000	0.28706	CGC		0.443	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		111	384	0	0	0	1	0	111	384				
ABCD3	5825	broad.mit.edu	37	1	94955289	94955289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94955289C>A	ENST00000370214.4	+	14	1190	c.1166C>A	c.(1165-1167)gCt>gAt	p.A389D	ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D|ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	389					ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGTTTTACTGCTCGGATTACA	0.313																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1165-1167)gCt>gAt		ATP-binding cassette, sub-family D (ALD), member 3							59.0	59.0	59.0					1																	94955289		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94955289C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1166C>A	1.37:g.94955289C>A	ENSP00000359233:p.Ala389Asp					ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D|ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D	p.A389D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	14	1190	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	389					D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1166C>A	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203575	0.79127	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.97710	-3.44;-4.5;-4.5;-4.5	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);	0.051119	0.85682	D	0.000000	D	0.98015	0.9346	M	0.66506	2.035	0.80722	D	1	P;D;P	0.63046	0.913;0.992;0.751	B;P;B	0.57101	0.382;0.813;0.382	D	0.98364	1.0550	10	0.72032	D	0.01	-15.5917	19.9326	0.97124	0.0:1.0:0.0:0.0	.	413;279;389	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	D	279;413;316;389	ENSP00000377780:A279D;ENSP00000403357:A413D;ENSP00000440692:A316D;ENSP00000359233:A389D	ENSP00000359233:A389D	A	+	2	0	ABCD3	94727877	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.720000	0.93068	0.650000	0.86243	GCT		0.313	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		39	120	1	0	3.38236e-24	1	3.86174e-24	39	120				
DEFB128	245939	broad.mit.edu	37	20	168663	168663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:168663C>T	ENST00000334391.4	-	2	203	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	49					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACATAATTTCCCACTTAGACA	0.388																																						ENST00000334391.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(145-147)gGg>gAg		defensin, beta 128							344.0	319.0	328.0					20																	168663		2203	4300	6503	SO:0001583	missense	245939				defense response to bacterium	extracellular region		g.chr20:168663C>T	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"""Defensins, beta"""	18106	protein-coding gene	gene with protein product	"""defensin, beta 28"""					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.146G>A	20.37:g.168663C>T	ENSP00000335382:p.Gly49Glu						p.G49E	NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	203	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	49					B2RU29	Missense_Mutation	SNP	ENST00000334391.4	37	c.146G>A	CCDS33430.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550653	0.45383	.	.	ENSG00000185982	ENST00000334391	T	0.13538	2.58	4.3	2.38	0.29361	.	0.427123	0.20219	N	0.096725	T	0.17874	0.0429	.	.	.	0.09310	N	1	P	0.42078	0.77	P	0.48840	0.592	T	0.04840	-1.0923	9	0.66056	D	0.02	-4.7649	6.5449	0.22400	0.0:0.7865:0.0:0.2135	.	49	Q7Z7B8	DB128_HUMAN	E	49	ENSP00000335382:G49E	ENSP00000335382:G49E	G	-	2	0	DEFB128	116663	0.002000	0.14202	0.144000	0.22314	0.081000	0.17604	0.437000	0.21543	0.751000	0.32900	0.651000	0.88453	GGG		0.388	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	NM_001037732		202	896	0	0	0	1	0	202	896				
USP11	8237	broad.mit.edu	37	X	47103933	47103933	+	Missense_Mutation	SNP	C	C	A	rs143527670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103933C>A	ENST00000218348.3	+	14	1956	c.1956C>A	c.(1954-1956)gaC>gaA	p.D652E	USP11_ENST00000377107.2_Missense_Mutation_p.D609E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	652	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATGATGAGGACGATGGGGATG	0.567																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1825-1827)gaC>gaA		ubiquitin specific peptidase 11							79.0	63.0	68.0					X																	47103933		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47103933C>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1956C>A	X.37:g.47103933C>A	ENSP00000218348:p.Asp652Glu					USP11_ENST00000218348.3_Missense_Mutation_p.D652E	p.D609E			P51784	UBP11_HUMAN			14	2181	+			652					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1827C>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	1.752	-0.488887	0.04352	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19806	2.13;2.12	5.29	-10.6	0.00265	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.135832	0.33496	N	0.004844	T	0.08088	0.0202	N	0.17082	0.46	0.19945	N	0.999943	B;B	0.30511	0.011;0.282	B;B	0.25506	0.061;0.057	T	0.08330	-1.0727	10	0.11182	T	0.66	-11.0471	15.5878	0.76499	0.0787:0.6963:0.0:0.225	.	379;652	B3KP28;P51784	.;UBP11_HUMAN	E	609;652	ENSP00000366311:D609E;ENSP00000218348:D652E	ENSP00000218348:D652E	D	+	3	2	USP11	46988877	0.001000	0.12720	0.049000	0.19019	0.845000	0.48019	-4.332000	0.00251	-3.730000	0.00114	-1.851000	0.00568	GAC		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		38	179	1	0	1.15505e-17	1	1.27701e-17	38	179				
NELFCD	51497	broad.mit.edu	37	20	57566038	57566038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57566038G>A	ENST00000344018.3	+	8	916	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	NELFCD_ENST00000602795.1_Missense_Mutation_p.G306R			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	297					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											CCAGGCTCTCGGGGCCATGCT	0.562																																						ENST00000602795.1																			0											c.(916-918)Ggg>Agg		negative elongation factor complex member C/D							87.0	82.0	84.0					20																	57566038		2203	4300	6503	SO:0001583	missense	51497							g.chr20:57566038G>A	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.889G>A	20.37:g.57566038G>A	ENSP00000342300:p.Gly297Arg					NELFCD_ENST00000344018.3_Missense_Mutation_p.G297R	p.G306R							8	964	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.916G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.535348	0.85812	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57533	-0.7795	9	0.16896	T	0.51	-43.4778	20.3606	0.98856	0.0:0.0:1.0:0.0	.	306;297	E1P5H4;Q8IXH7	.;NELFD_HUMAN	R	297	.	ENSP00000342300:G297R	G	+	1	0	TH1L	56999433	1.000000	0.71417	0.731000	0.30826	0.655000	0.38815	9.751000	0.98889	2.817000	0.96982	0.557000	0.71058	GGG		0.562	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		122	415	0	0	0	1	0	122	415				
MRPL47	57129	broad.mit.edu	37	3	179320442	179320442	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179320442G>T	ENST00000476781.1	-	2	271	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	NDUFB5_ENST00000472629.1_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|NDUFB5_ENST00000259037.3_5'Flank|MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y|MRPL47_ENST00000392659.2_Intron	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	81					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TATCTCACCAGATTTTACTTT	0.398																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(241-243)tCt>tAt		mitochondrial ribosomal protein L47							66.0	70.0	69.0					3																	179320442		2203	4299	6502	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179320442G>T	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.242C>A	3.37:g.179320442G>T	ENSP00000417602:p.Ser81Tyr					MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y	p.S81Y	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	271	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		81					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.242C>A	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872083	0.72180	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.33865	1.39;1.42	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.41415	1.275	0.80722	D	1	D;D	0.61080	0.966;0.989	P;D	0.69307	0.831;0.963	T	0.22730	-1.0208	10	0.02654	T	1	-23.0982	17.9188	0.88960	0.0:0.0:1.0:0.0	.	61;81	Q9HD33-2;Q9HD33	.;RM47_HUMAN	Y	81;61	ENSP00000417602:S81Y;ENSP00000259038:S61Y	ENSP00000259038:S61Y	S	-	2	0	MRPL47	180803136	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.879000	0.75572	2.511000	0.84671	0.650000	0.86243	TCT		0.398	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		71	276	1	0	9.12251e-31	1	1.07152e-30	71	276				
FMO3	2328	broad.mit.edu	37	1	171083225	171083225	+	Silent	SNP	C	C	T	rs2066536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171083225C>T	ENST00000367755.4	+	7	1017	c.906C>T	c.(904-906)aaC>aaT	p.N302N	FMO3_ENST00000542847.1_Silent_p.N282N|FMO3_ENST00000392085.2_Silent_p.N302N|FMO3_ENST00000538429.1_Silent_p.N239N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	302					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TAAAGCCTAACGTGAAGGAAT	0.453																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(904-906)aaC>aaT		flavin containing monooxygenase 3		C	,	2,4404	4.2+/-10.8	0,2,2201	139.0	122.0	128.0		906,906	-5.5	0.9	1	dbSNP_98	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FMO3	NM_001002294.2,NM_006894.5	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	302/533,302/533	171083225	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083225C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.906C>T	1.37:g.171083225C>T						FMO3_ENST00000542847.1_Silent_p.N282N|FMO3_ENST00000538429.1_Silent_p.N239N|FMO3_ENST00000392085.2_Silent_p.N302N	p.N302N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			7	1017	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		302					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.906C>T	CCDS1292.1																																																																																				0.453	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		93	262	0	0	0	1	0	93	262				
PTPDC1	138639	broad.mit.edu	37	9	96860214	96860214	+	Missense_Mutation	SNP	G	G	A	rs199863157		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860214G>A	ENST00000375360.3	+	7	1544	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E454K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	402					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGAGGGCCGAGAACCTCCT	0.527																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1204-1206)Gag>Aag		protein tyrosine phosphatase domain containing 1							52.0	54.0	53.0					9																	96860214		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860214G>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1204G>A	9.37:g.96860214G>A	ENSP00000364509:p.Glu402Lys					PTPDC1_ENST00000288976.3_Missense_Mutation_p.E454K	p.E402K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1544	+			402					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.1204G>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333160	0.24167	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12984	2.64;2.63	5.52	3.64	0.41730	.	0.187387	0.56097	N	0.000026	T	0.11324	0.0276	L	0.47716	1.5	0.18873	N	0.999986	B;B;B;B	0.19445	0.021;0.036;0.021;0.021	B;B;B;B	0.13407	0.004;0.009;0.004;0.004	T	0.32955	-0.9887	10	0.15066	T	0.55	-12.7677	9.6524	0.39906	0.0779:0.1424:0.7797:0.0	.	456;454;456;402	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	402;454	ENSP00000364509:E402K;ENSP00000288976:E454K	ENSP00000288976:E454K	E	+	1	0	PTPDC1	95900035	0.998000	0.40836	0.014000	0.15608	0.642000	0.38348	3.373000	0.52394	0.660000	0.30964	0.655000	0.94253	GAG		0.527	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		38	232	0	0	0	1	0	38	232				
CPNE5	57699	broad.mit.edu	37	6	36742762	36742762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36742762G>T	ENST00000244751.2	-	10	1337	c.713C>A	c.(712-714)gCc>gAc	p.A238D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	238	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTTGCAGAGGGCTCTCACGGG	0.522																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(712-714)gCc>gAc		copine V							191.0	155.0	167.0					6																	36742762		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36742762G>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.713C>A	6.37:g.36742762G>T	ENSP00000244751:p.Ala238Asp						p.A238D	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			10	1337	-			238			C2 2.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.713C>A	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276253	0.40294	.	.	ENSG00000124772	ENST00000244751	T	0.38240	1.15	5.28	4.4	0.53042	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.107348	0.64402	D	0.000007	T	0.12860	0.0312	N	0.10685	0.025	0.80722	D	1	B	0.24576	0.106	B	0.35899	0.213	T	0.11446	-1.0587	10	0.62326	D	0.03	.	12.2525	0.54605	0.0:0.3298:0.6702:0.0	.	238	Q9HCH3	CPNE5_HUMAN	D	238	ENSP00000244751:A238D	ENSP00000244751:A238D	A	-	2	0	CPNE5	36850740	1.000000	0.71417	0.994000	0.49952	0.302000	0.27658	9.282000	0.95840	1.187000	0.43000	0.448000	0.29417	GCC		0.522	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		38	140	1	0	8.69298e-16	1	9.51602e-16	38	140				
ALG9	79796	broad.mit.edu	37	11	111711410	111711410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111711410G>A	ENST00000531154.1	-	10	1100	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.L210F|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	381					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCGCCACAGAGACATATAAGT	0.393																																						ENST00000398006.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(628-630)Ctc>Ttc		ALG9, alpha-1,2-mannosyltransferase							100.0	107.0	105.0					11																	111711410		1903	4119	6022	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111711410G>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.628C>T	11.37:g.111711410G>A	ENSP00000435517:p.Leu210Phe					ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.L210F	p.L210F	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	10	1536	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	381					Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	c.628C>T	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118509	0.94385	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.69926	-0.44;-0.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.75085	2.285	0.80722	D	1	D;D;D;P	0.89917	1.0;0.981;1.0;0.937	D;D;D;P	0.87578	0.998;0.948;0.994;0.896	T	0.82975	-0.0190	10	0.56958	D	0.05	-18.0339	19.5951	0.95533	0.0:0.0:1.0:0.0	.	210;381;614;381	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	F	210;210;614	ENSP00000435517:L210F;ENSP00000381090:L210F	ENSP00000381090:L210F	L	-	1	0	ALG9	111216620	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.813000	0.99286	2.705000	0.92388	0.591000	0.81541	CTC		0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		96	386	0	0	0	1	0	96	386				
CCDC88C	440193	broad.mit.edu	37	14	91804434	91804434	+	Missense_Mutation	SNP	G	G	A	rs200829106		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91804434G>A	ENST00000389857.6	-	10	1051	c.965C>T	c.(964-966)gCg>gTg	p.A322V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	322					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CACGCGGTTCGCCTTCTCCCG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19653	0.0		0.0	False		,,,				2504	0.0					ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(964-966)gCg>gTg		coiled-coil domain containing 88C							43.0	48.0	47.0					14																	91804434		2111	4231	6342	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91804434G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.965C>T	14.37:g.91804434G>A	ENSP00000374507:p.Ala322Val						p.A322V	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			10	1051	-		all_cancers(154;0.0468)	322					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.965C>T	CCDS45151.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.631770	0.96682	.	.	ENSG00000015133	ENST00000389857	T	0.18502	2.21	5.54	5.54	0.83059	.	0.000000	0.48286	U	0.000193	T	0.40272	0.1110	M	0.75447	2.3	0.80722	D	1	D	0.56746	0.977	P	0.56960	0.81	T	0.25537	-1.0129	10	0.87932	D	0	-26.7377	19.4767	0.94992	0.0:0.0:1.0:0.0	.	322	Q9P219	DAPLE_HUMAN	V	322	ENSP00000374507:A322V	ENSP00000374507:A322V	A	-	2	0	CCDC88C	90874187	1.000000	0.71417	0.972000	0.41901	0.971000	0.66376	7.991000	0.88244	2.623000	0.88846	0.561000	0.74099	GCG		0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		52	220	0	0	0	1	0	52	220				
DGKI	9162	broad.mit.edu	37	7	137154342	137154342	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137154342C>T	ENST00000288490.5	-	25	2451	c.2451G>A	c.(2449-2451)agG>agA	p.R817R	DGKI_ENST00000446122.1_Silent_p.R799R|DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000453654.2_Silent_p.R517R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	817					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGAGAGAGCCCTGGGGAAGG	0.532																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1549-1551)agG>agA		diacylglycerol kinase, iota							132.0	118.0	123.0					7																	137154342		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137154342C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2451G>A	7.37:g.137154342C>T						DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000288490.5_Silent_p.R817R|DGKI_ENST00000446122.1_Silent_p.R799R	p.R517R			O75912	DGKI_HUMAN			25	2090	-			817					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.1551G>A	CCDS5845.1																																																																																				0.532	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		39	268	0	0	0	1	0	39	268				
WIPF2	147179	broad.mit.edu	37	17	38430111	38430111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38430111G>A	ENST00000323571.4	+	6	1280	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	347					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.R347Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCACCATACCGAATGCATGGG	0.612										HNSCC(43;0.11)																												ENST00000323571.4																			1	Substitution - Missense(1)	p.R347Q(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(1039-1041)cGa>cAa		WAS/WASL interacting protein family, member 2							67.0	62.0	64.0					17																	38430111		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38430111G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1040G>A	17.37:g.38430111G>A	ENSP00000320924:p.Arg347Gln	HNSCC(43;0.11)				WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q	p.R347Q	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			6	1280	+			347					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.1040G>A	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627069	0.96671	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.48836	1.27;0.8;0.8	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.69078	0.962;0.997	B;P	0.52598	0.194;0.703	T	0.52859	-0.8519	10	0.30854	T	0.27	-6.6071	18.9492	0.92635	0.0:0.0:1.0:0.0	.	89;347	A8MWR2;Q8TF74	.;WIPF2_HUMAN	Q	347;89;89	ENSP00000320924:R347Q;ENSP00000377663:R89Q;ENSP00000439175:R89Q	ENSP00000320924:R347Q	R	+	2	0	WIPF2	35683637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.554000	0.67294	2.646000	0.89796	0.561000	0.74099	CGA		0.612	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		24	375	0	0	0	1	0	24	375				
ZNF546	339327	broad.mit.edu	37	19	40504294	40504294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40504294C>T	ENST00000347077.4	+	3	277	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCAAATCATTCCTCTGCACTC	0.403																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(61-63)Cct>Tct		zinc finger protein 546							96.0	93.0	94.0					19																	40504294		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40504294C>T	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.61C>T	19.37:g.40504294C>T	ENSP00000339823:p.Pro21Ser					ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron	p.P21S	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			3	277	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		21					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.61C>T	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	6.497	0.459971	0.12342	.	.	ENSG00000187187	ENST00000347077	T	0.05855	3.38	1.66	-2.3	0.06785	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	9	0.21540	T	0.41	.	2.7014	0.05149	0.0:0.3319:0.2577:0.4104	.	21	Q86UE3	ZN546_HUMAN	S	21	ENSP00000339823:P21S	ENSP00000339823:P21S	P	+	1	0	ZNF546	45196134	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.425000	0.07017	-0.575000	0.05982	-0.142000	0.14014	CCT		0.403	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		23	200	0	0	0	1	0	23	200				
UCMA	221044	broad.mit.edu	37	10	13276255	13276255	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13276255T>G	ENST00000378681.3	-	1	76	c.4A>C	c.(4-6)Act>Cct	p.T2P	UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	2					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGTCTCCAAGTCATCTTTGCA	0.602																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(4-6)Act>Cct		upper zone of growth plate and cartilage matrix associated							68.0	54.0	59.0					10																	13276255		2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13276255T>G	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.4A>C	10.37:g.13276255T>G	ENSP00000367952:p.Thr2Pro					UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	p.T2P	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			1	76	-			2						Missense_Mutation	SNP	ENST00000378681.3	37	c.4A>C	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966081	0.34659	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.08	1.47	0.22746	.	0.707604	0.14026	N	0.346452	T	0.28101	0.0693	L	0.36672	1.1	0.22280	N	0.999234	B	0.25105	0.118	B	0.26416	0.069	T	0.23691	-1.0181	9	0.46703	T	0.11	1.1185	2.6256	0.04928	0.2076:0.2732:0.0:0.5192	.	2	Q8WVF2	UCMA_HUMAN	P	2	.	ENSP00000367952:T2P	T	-	1	0	UCMA	13316261	0.998000	0.40836	0.984000	0.44739	0.555000	0.35460	0.630000	0.24553	0.008000	0.14787	0.459000	0.35465	ACT		0.602	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		20	135	0	0	0	1	0	20	135				
RORA	6095	broad.mit.edu	37	15	60803641	60803641	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60803641T>C	ENST00000335670.6	-	5	704	c.604A>G	c.(604-606)Aac>Gac	p.N202D	RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.N147D|RORA_ENST00000560004.1_5'Flank|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	202	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCAATGTAGTTACTGAGGTCG	0.612																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(604-606)Aac>Gac		RAR-related orphan receptor A							205.0	151.0	169.0					15																	60803641		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60803641T>C	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.604A>G	15.37:g.60803641T>C	ENSP00000335087:p.Asn202Asp					RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RORA_ENST00000449337.2_Missense_Mutation_p.N147D	p.N202D	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			5	704	-			235			Hinge.|Poly-Gln.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.604A>G	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184127	0.57800	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94330	-3.36;-3.36;-3.4;-3.32	5.9	4.78	0.61160	.	0.345548	0.38111	N	0.001813	T	0.79003	0.4373	N	0.02539	-0.55	0.34849	D	0.741446	B;B;B;B	0.33022	0.016;0.005;0.394;0.0	B;B;B;B	0.27076	0.05;0.037;0.076;0.001	T	0.78861	-0.2037	10	0.13470	T	0.59	.	9.0528	0.36387	0.0:0.1401:0.0:0.8599	.	202;227;235;147	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	D	202;147;227;235	ENSP00000335087:N202D;ENSP00000402971:N147D;ENSP00000309753:N227D;ENSP00000261523:N235D	ENSP00000261523:N235D	N	-	1	0	RORA	58590933	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.728000	0.54991	1.059000	0.40554	0.528000	0.53228	AAC		0.612	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			52	611	0	0	0	1	0	52	611				
STXBP5	134957	broad.mit.edu	37	6	147694892	147694892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147694892C>T	ENST00000321680.6	+	26	3107	c.3107C>T	c.(3106-3108)cCt>cTt	p.P1036L	STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L|STXBP5_ENST00000367481.3_Missense_Mutation_p.P1000L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1036					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTCTTCACTCCTGTAGAAACA	0.353																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2998-3000)cCt>cTt		syntaxin binding protein 5 (tomosyn)							117.0	116.0	116.0					6																	147694892		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147694892C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3107C>T	6.37:g.147694892C>T	ENSP00000321826:p.Pro1036Leu					STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L|STXBP5_ENST00000321680.6_Missense_Mutation_p.P1036L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L	p.P1000L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	24	3107	+		Ovarian(120;0.0164)	1036					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2999C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472193	0.63737	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.17854	2.33;2.25;2.45;2.89	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.46157	1.445	0.80722	D	1	B;B;B	0.17268	0.021;0.007;0.007	B;B;B	0.19148	0.013;0.024;0.024	T	0.06588	-1.0818	10	0.28530	T	0.3	.	14.9973	0.71443	0.0:0.9298:0.0:0.0702	.	1000;1036;691	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	L	1000;1036;983;691	ENSP00000356451:P1000L;ENSP00000321826:P1036L;ENSP00000356450:P983L;ENSP00000179882:P691L	ENSP00000179882:P691L	P	+	2	0	STXBP5	147736585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.651000	0.67951	2.705000	0.92388	0.585000	0.79938	CCT		0.353	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			53	260	0	0	0	1	0	53	260				
SLCO4A1	28231	broad.mit.edu	37	20	61303134	61303134	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61303134C>T	ENST00000370507.1	+	11	2154	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	SLCO4A1_ENST00000217159.1_Silent_p.C686C			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	686					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCATAGCCTGCTTCTTATACA	0.607																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(2056-2058)tgC>tgT		solute carrier organic anion transporter family, member 4A1							97.0	96.0	97.0					20																	61303134		2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61303134C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.2058C>T	20.37:g.61303134C>T						SLCO4A1_ENST00000370507.1_Silent_p.C686C	p.C686C	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		12	2263	+	Breast(26;3.65e-08)		686					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.2058C>T	CCDS13501.1																																																																																				0.607	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		71	822	0	0	0	1	0	71	822				
ACAN	176	broad.mit.edu	37	15	89403630	89403630	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89403630C>T	ENST00000561243.1	+	12	6906	c.6906C>T	c.(6904-6906)tgC>tgT	p.C2302C	ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Silent_p.C2302C			P16112	PGCA_HUMAN	aggrecan	2187	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACGTCATATGCCTGTGCCCCC	0.632																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6904-6906)tgC>tgT		aggrecan							43.0	47.0	46.0					15																	89403630		2057	4176	6233	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89403630C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6906C>T	15.37:g.89403630C>T						ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Silent_p.C2302C	p.C2302C	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		13	7280	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2302					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.6906C>T	CCDS53970.1																																																																																				0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		15	106	0	0	0	1	0	15	106				
DLL1	28514	broad.mit.edu	37	6	170592876	170592876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592876G>A	ENST00000366756.3	-	9	1824	c.1491C>T	c.(1489-1491)caC>caT	p.H497H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	497	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCCCCTCTCGTGGCAGGTGG	0.701																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1489-1491)caC>caT		delta-like 1 (Drosophila)							13.0	14.0	14.0					6																	170592876		2187	4279	6466	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592876G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1491C>T	6.37:g.170592876G>A							p.H497H	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	1824	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	497			EGF-like 8.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1491C>T	CCDS5313.1																																																																																				0.701	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			13	50	0	0	0	1	0	13	50				
MBNL1	4154	broad.mit.edu	37	3	152150554	152150554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152150554G>A	ENST00000463374.1	+	3	905	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000282486.6_Missense_Mutation_p.A132T|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	132					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGCAGCCGCCTTTAATCC	0.473																																						ENST00000282486.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(394-396)Gcc>Acc		muscleblind-like splicing regulator 1							142.0	156.0	152.0					3																	152150554		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152150554G>A	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.394G>A	3.37:g.152150554G>A	ENSP00000418108:p.Ala132Thr					MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T|MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000463374.1_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T	p.A132T			Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	2236	+			132					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.394G>A	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963689	0.92791	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.46774	D	0.999191	D;P;P;D;B;D;D	0.76494	0.999;0.472;0.556;0.995;0.41;0.994;0.99	P;B;B;P;B;P;P	0.62740	0.906;0.072;0.203;0.838;0.217;0.701;0.819	T	0.63060	-0.6721	10	0.38643	T	0.18	.	18.3327	0.90276	0.0:0.0:1.0:0.0	.	132;132;132;132;75;132;132	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	T	132;132;40;75;132;40;132;132;132;132;132;132;35	ENSP00000282486:A132T;ENSP00000347637:A132T;ENSP00000417741:A40T;ENSP00000419347:A75T;ENSP00000319429:A132T;ENSP00000420680:A40T;ENSP00000420327:A132T;ENSP00000319374:A132T;ENSP00000350064:A132T;ENSP00000418108:A132T;ENSP00000420103:A132T;ENSP00000418876:A132T;ENSP00000418508:A35T	ENSP00000282486:A132T	A	+	1	0	MBNL1	153633244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.876000	0.75556	2.396000	0.81511	0.563000	0.77884	GCC		0.473	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		258	869	0	0	0	1	0	258	869				
C11orf94	143678	broad.mit.edu	37	11	45928432	45928432	+	Missense_Mutation	SNP	C	C	T	rs376288720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928432C>T	ENST00000449465.1	-	2	199	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	55						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TCCACCAGGCCGGAAAGTGGC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18178	0.001		0.0	False		,,,				2504	0.0					ENST00000449465.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						c.(163-165)Ggc>Agc		chromosome 11 open reading frame 94							69.0	81.0	77.0					11																	45928432		2017	4165	6182	SO:0001583	missense	143678					extracellular region		g.chr11:45928432C>T		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.163G>A	11.37:g.45928432C>T	ENSP00000401498:p.Gly55Ser						p.G55S	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN			2	199	-			55						Missense_Mutation	SNP	ENST00000449465.1	37	c.163G>A	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832458	0.50845	.	.	ENSG00000234776	ENST00000449465	T	0.54675	0.56	4.73	2.84	0.33178	.	.	.	.	.	T	0.41119	0.1145	.	.	.	0.27540	N	0.950833	P	0.38020	0.615	B	0.33121	0.158	T	0.26710	-1.0095	8	0.87932	D	0	-4.7454	9.5199	0.39129	0.0:0.8542:0.0:0.1458	.	55	C9JXX5	CK094_HUMAN	S	55	ENSP00000401498:G55S	ENSP00000401498:G55S	G	-	1	0	C11orf94	45885008	0.897000	0.30589	0.264000	0.24511	0.265000	0.26407	1.715000	0.37971	0.422000	0.26005	0.591000	0.81541	GGC		0.617	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		71	411	0	0	0	1	0	71	411				
VPS13C	54832	broad.mit.edu	37	15	62283994	62283994	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62283994C>A	ENST00000261517.5	-	17	1434	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGCCCAGACCGAATCACCTG	0.373																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1360-1362)cGg>cTg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							114.0	119.0	117.0					15																	62283994		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62283994C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1361G>T	15.37:g.62283994C>A	ENSP00000261517:p.Arg454Leu					VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L	p.R454L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			17	1434	-			454						Missense_Mutation	SNP	ENST00000261517.5	37	c.1361G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639418	0.87760	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.49139	0.79;0.79;0.95	5.78	4.86	0.63082	.	0.078555	0.48767	D	0.000166	T	0.56426	0.1984	M	0.69823	2.125	0.53688	D	0.999978	P;P;P;P	0.47350	0.894;0.798;0.798;0.696	P;P;B;B	0.48425	0.577;0.577;0.392;0.3	T	0.62163	-0.6912	10	0.66056	D	0.02	.	13.9353	0.64021	0.0:0.9261:0.0:0.0738	.	411;454;411;454	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	411;454;454;454	ENSP00000249837:R411L;ENSP00000261517:R454L;ENSP00000379233:R454L	ENSP00000249837:R411L	R	-	2	0	VPS13C	60071286	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.735000	0.62051	1.420000	0.47138	0.591000	0.81541	CGG		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		77	622	1	0	3.1711e-36	1	3.79393e-36	77	622				
ODF1	4956	broad.mit.edu	37	8	103564019	103564019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564019C>A	ENST00000285402.3	+	1	220	c.64C>A	c.(64-66)Cta>Ata	p.L22I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	22					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GGACAGAGAACTAAGGCAACT	0.488																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(64-66)Cta>Ata		outer dense fiber of sperm tails 1							271.0	206.0	228.0					8																	103564019		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564019C>A	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.64C>A	8.37:g.103564019C>A	ENSP00000285402:p.Leu22Ile						p.L22I	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	220	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		22					Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.64C>A	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332159	0.60853	.	.	ENSG00000155087	ENST00000285402	T	0.35973	1.28	5.7	2.92	0.33932	.	0.000000	0.41938	D	0.000790	T	0.33904	0.0879	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	D	0.67548	0.952	T	0.11518	-1.0584	10	0.41790	T	0.15	-13.2892	9.486	0.38931	0.0:0.839:0.0:0.161	.	22	Q14990	ODFP1_HUMAN	I	22	ENSP00000285402:L22I	ENSP00000285402:L22I	L	+	1	2	ODF1	103633195	0.969000	0.33509	0.952000	0.39060	0.991000	0.79684	0.541000	0.23207	0.328000	0.23435	0.563000	0.77884	CTA		0.488	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			109	470	1	0	1.76403e-45	1	2.16332e-45	109	470				
CDCA5	113130	broad.mit.edu	37	11	64846905	64846905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64846905C>T	ENST00000275517.3	-	5	770	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	200					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATGTCTGGGGCCCAGGGCTTT	0.577																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(598-600)Gcc>Acc		cell division cycle associated 5							69.0	77.0	75.0					11																	64846905		2201	4297	6498	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64846905C>T	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.598G>A	11.37:g.64846905C>T	ENSP00000275517:p.Ala200Thr					CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	p.A200T	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			5	770	-			200					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.598G>A	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661948	0.47572	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.43688	0.94;0.94	5.29	-0.127	0.13510	.	0.451135	0.23805	N	0.044381	T	0.34542	0.0901	L	0.57536	1.79	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.19582	-1.0301	10	0.33141	T	0.24	.	9.3783	0.38297	0.0:0.5908:0.0:0.4092	.	200	Q96FF9	CDCA5_HUMAN	T	200	ENSP00000275517:A200T;ENSP00000385711:A200T	ENSP00000275517:A200T	A	-	1	0	CDCA5	64603481	0.172000	0.23043	0.032000	0.17829	0.676000	0.39594	0.288000	0.18939	-0.032000	0.13758	-0.151000	0.13558	GCC		0.577	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		75	297	0	0	0	1	0	75	297				
CAPN15	6650	broad.mit.edu	37	16	599006	599006	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:599006T>G	ENST00000219611.2	+	5	1826	c.1463T>G	c.(1462-1464)tTc>tGc	p.F488C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	488	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AATGTGAGCTTCGTGGATGAC	0.672																																						ENST00000219611.2																			0											c.(1462-1464)tTc>tGc		calpain 15							117.0	97.0	104.0					16																	599006		2199	4297	6496	SO:0001583	missense	6650							g.chr16:599006T>G	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1463T>G	16.37:g.599006T>G	ENSP00000219611:p.Phe488Cys					LA16c-366D1.3_ENST00000565879.1_RNA	p.F488C	NM_005632.2	NP_005623.1					5	1826	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.1463T>G	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	t	17.40	3.381250	0.61845	.	.	ENSG00000103326	ENST00000219611	T	0.66995	-0.24	5.04	5.04	0.67666	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.87712	0.6246	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91711	0.5381	10	0.87932	D	0	.	13.6292	0.62186	0.0:0.0:0.0:1.0	.	488	O75808	CAN15_HUMAN	C	488	ENSP00000219611:F488C	ENSP00000219611:F488C	F	+	2	0	SOLH	539007	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	7.777000	0.85628	1.903000	0.55091	0.454000	0.30748	TTC		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		113	567	0	0	0	1	0	113	567				
GP6	51206	broad.mit.edu	37	19	55543732	55543732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55543732G>A	ENST00000417454.1	-	3	127	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.P34S|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	34	Ig-like C2-type 1.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AGGGAGCTGGGCAGAGCCTGG	0.706																																						ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(100-102)Ccc>Tcc		glycoprotein VI (platelet)							18.0	22.0	21.0					19																	55543732		1959	4138	6097	SO:0001583	missense	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55543732G>A	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.100C>T	19.37:g.55543732G>A	ENSP00000394922:p.Pro34Ser					GP6_ENST00000417454.1_Missense_Mutation_p.P34S|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	p.P34S	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	3	127	-			34			Ig-like C2-type 1.		Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.100C>T	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396014	0.62177	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.12879	2.64;2.64;2.64	3.96	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35128	0.0921	M	0.78285	2.405	0.26996	N	0.965039	D;P;D	0.65815	0.987;0.709;0.995	P;P;D	0.63597	0.766;0.663;0.916	T	0.07290	-1.0780	9	0.87932	D	0	.	11.6946	0.51536	0.0:0.0:1.0:0.0	.	34;34;34	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	S	34	ENSP00000394922:P34S;ENSP00000308782:P34S;ENSP00000334552:P34S	ENSP00000308782:P34S	P	-	1	0	GP6	60235544	0.910000	0.30920	0.196000	0.23383	0.956000	0.61745	3.954000	0.56708	2.234000	0.73211	0.561000	0.74099	CCC		0.706	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			37	151	0	0	0	1	0	37	151				
XIRP2	129446	broad.mit.edu	37	2	168107754	168107754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168107754G>A	ENST00000409195.1	+	9	9941	c.9852G>A	c.(9850-9852)gtG>gtA	p.V3284V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V3284V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3109					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCACATGGTGCCCGACACTG	0.473																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9850-9852)gtG>gtA		xin actin-binding repeat containing 2							94.0	94.0	94.0					2																	168107754		2019	4176	6195	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107754G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9852G>A	2.37:g.168107754G>A						XIRP2_ENST00000295237.9_Silent_p.V3284V|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.V3284V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9941	+			3109					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.9852G>A	CCDS42769.1																																																																																				0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		175	468	0	0	0	1	0	175	468				
NUP214	8021	broad.mit.edu	37	9	134074085	134074085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134074085C>T	ENST00000359428.5	+	29	5348	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L	NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L|NUP214_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L			P35658	NU214_HUMAN	nucleoporin 214kDa	1735	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTGGGCAGTCGGCGAGCAGT	0.592			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(5203-5205)tCg>tTg		nucleoporin 214kDa							74.0	69.0	71.0					9																	134074085		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134074085C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5204C>T	9.37:g.134074085C>T	ENSP00000352400:p.Ser1735Leu					NUP214_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L	p.S1735L			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	5348	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1735			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.5204C>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302729	0.23736	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.39592	1.45;1.07;1.07;1.07	5.57	3.73	0.42828	.	0.861453	0.09604	N	0.779888	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.48230	0.769;0.801;0.882;0.668;0.907	B;B;B;B;B	0.33295	0.128;0.09;0.128;0.09;0.161	T	0.04191	-1.0970	10	0.51188	T	0.08	0.0048	6.7765	0.23622	0.0:0.6975:0.1453:0.1572	.	561;1164;1329;1725;1735	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1735;1725;1736;1714;1329;1164;561	ENSP00000352400:S1735L;ENSP00000396576:S1725L;ENSP00000405014:S1736L;ENSP00000436793:S561L	ENSP00000352400:S1735L	S	+	2	0	NUP214	133063906	0.738000	0.28186	0.036000	0.18154	0.094000	0.18550	2.484000	0.45242	0.724000	0.32296	0.462000	0.41574	TCG		0.592	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		79	382	0	0	0	1	0	79	382				
OGDH	4967	broad.mit.edu	37	7	44687259	44687259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44687259C>T	ENST00000222673.5	+	4	460	c.418C>T	c.(418-420)Cga>Tga	p.R140*	OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	140					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTCATAGATACGAGGGCACCA	0.458																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(418-420)Cga>Tga		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						95.0	90.0	91.0					7																	44687259		2203	4300	6503	SO:0001587	stop_gained	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44687259C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.418C>T	7.37:g.44687259C>T	ENSP00000222673:p.Arg140*					OGDH_ENST00000447398.1_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*	p.R140*	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			4	460	+			140					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Nonsense_Mutation	SNP	ENST00000222673.5	37	c.418C>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	37	6.456488	0.97581	.	.	ENSG00000105953	ENST00000443864;ENST00000419661;ENST00000444676;ENST00000222673	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3707	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000222673:R140X	R	+	1	2	OGDH	44653784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA		0.458	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			30	240	0	0	0	1	0	30	240				
TSHZ3	57616	broad.mit.edu	37	19	31768179	31768179	+	Silent	SNP	G	G	A	rs373110206		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31768179G>A	ENST00000240587.4	-	2	2847	c.2520C>T	c.(2518-2520)cgC>cgT	p.R840R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	840					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGCATTCTCGCGTAGCGGCG	0.522																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2518-2520)cgC>cgT		teashirt zinc finger homeobox 3		G		0,4406		0,0,2203	147.0	139.0	142.0		2520	-1.6	1.0	19		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSHZ3	NM_020856.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		840/1082	31768179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768179G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2520C>T	19.37:g.31768179G>A							p.R840R	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2847	-	Esophageal squamous(110;0.226)		840					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2520C>T	CCDS12421.2																																																																																				0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		148	522	0	0	0	1	0	148	522				
MYOM1	8736	broad.mit.edu	37	18	3193949	3193949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3193949C>T	ENST00000356443.4	-	3	631	c.298G>A	c.(298-300)Gat>Aat	p.D100N	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.D100N|MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	100					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGACTGGAATCTGTAAGTCTG	0.373																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(298-300)Gat>Aat		myomesin 1							88.0	80.0	82.0					18																	3193949		1859	4111	5970	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3193949C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.298G>A	18.37:g.3193949C>T	ENSP00000348821:p.Asp100Asn					MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N|MYOM1_ENST00000356443.4_Missense_Mutation_p.D100N|RP13-270P17.2_ENST00000580139.1_RNA	p.D100N			P52179	MYOM1_HUMAN			3	631	-			100					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.298G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643507	0.14451	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51071	0.89;0.89;0.72	5.92	5.92	0.95590	.	0.141721	0.48767	D	0.000177	T	0.32194	0.0821	N	0.24115	0.695	0.33841	D	0.631436	B;B	0.13145	0.003;0.007	B;B	0.11329	0.006;0.005	T	0.36768	-0.9734	10	0.36615	T	0.2	.	8.856	0.35227	0.2551:0.6748:0.0:0.0701	.	100;100	P52179-2;P52179	.;MYOM1_HUMAN	N	100	ENSP00000348821:D100N;ENSP00000383413:D100N;ENSP00000261606:D100N	ENSP00000261606:D100N	D	-	1	0	MYOM1	3183949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.017000	0.40981	2.795000	0.96236	0.655000	0.94253	GAT		0.373	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	131	0	0	0	1	0	5	131				
ERICH3	127254	broad.mit.edu	37	1	75078406	75078406	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75078406C>A	ENST00000326665.5	-	9	1306	c.1088G>T	c.(1087-1089)aGc>aTc	p.S363I	C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		363										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAACAGGAGCTTAACCTGTT	0.443																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1087-1089)aGc>aTc		chromosome 1 open reading frame 173							105.0	100.0	101.0					1																	75078406		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75078406C>A																												ENST00000326665.5:c.1088G>T	1.37:g.75078406C>A	ENSP00000322609:p.Ser363Ile					RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I	p.S363I	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			9	1306	-			363					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1088G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114819	0.94339	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.61980	0.56;0.06	5.63	5.63	0.86233	.	.	.	.	.	T	0.78941	0.4363	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80400	-0.1398	9	0.87932	D	0	-16.7027	19.649	0.95793	0.0:1.0:0.0:0.0	.	166;363	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	I	363;166	ENSP00000322609:S363I;ENSP00000398581:S166I	ENSP00000322609:S363I	S	-	2	0	C1orf173	74850994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	2.808000	0.96608	0.655000	0.94253	AGC		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			38	220	1	0	4.46736e-08	1	4.65807e-08	38	220				
PCM1	5108	broad.mit.edu	37	8	17872228	17872228	+	Missense_Mutation	SNP	G	G	A	rs565494296		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17872228G>A	ENST00000519253.1	+	36	5947	c.5696G>A	c.(5695-5697)cGt>cAt	p.R1899H	PCM1_ENST00000325083.8_Missense_Mutation_p.R1907H|PCM1_ENST00000524226.1_Intron|PCM1_ENST00000327578.8_Missense_Mutation_p.R606H			Q15154	PCM1_HUMAN	pericentriolar material 1	1907					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTGCCGTTACGTTTACCTGAA	0.438			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(5719-5721)cGt>cAt		pericentriolar material 1							92.0	86.0	88.0					8																	17872228		1885	4111	5996	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17872228G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5696G>A	8.37:g.17872228G>A	ENSP00000431099:p.Arg1899His					PCM1_ENST00000327578.8_Missense_Mutation_p.R606H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1899H|PCM1_ENST00000524226.1_Intron	p.R1907H	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	36	6159	+			1907					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.5720G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840949|2.840949	0.51057|0.51057	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000327578|ENST00000522275	T;T;T|.	0.17370|.	3.66;3.66;2.28|.	4.65|4.65	3.78|3.78	0.43462|0.43462	.|.	0.385114|.	0.28946|.	N|.	0.013636|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.03608|0.03608	-0.345|-0.345	0.20074|0.20074	N|N	0.999939|0.999939	P;P;B;P;P;P|.	0.45126|.	0.851;0.851;0.226;0.851;0.799;0.851|.	B;B;B;B;B;B|.	0.40534|.	0.332;0.332;0.004;0.332;0.121;0.332|.	T|T	0.15636|0.15636	-1.0430|-1.0430	10|5	0.72032|.	D|.	0.01|.	-6.3064|-6.3064	14.2484|14.2484	0.66004|0.66004	0.0:0.849:0.151:0.0|0.0:0.849:0.151:0.0	.|.	1899;1907;706;1899;1852;1907|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;Q15154|.	.;.;.;.;.;PCM1_HUMAN|.	H|I	1907;1899;606|647	ENSP00000327077:R1907H;ENSP00000431099:R1899H;ENSP00000328332:R606H|.	ENSP00000327077:R1907H|.	R|V	+|+	2|1	0|0	PCM1|PCM1	17916508|17916508	0.996000|0.996000	0.38824|0.38824	0.965000|0.965000	0.40720|0.40720	0.839000|0.839000	0.47603|0.47603	1.811000|1.811000	0.38942|0.38942	1.576000|1.576000	0.49790|0.49790	-0.234000|-0.234000	0.12200|0.12200	CGT|GTT		0.438	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		10	133	0	0	0	1	0	10	133				
SLC22A5	6584	broad.mit.edu	37	5	131726498	131726498	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131726498C>A	ENST00000245407.3	+	7	1390	c.1169C>A	c.(1168-1170)gCc>gAc	p.A390D	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	390					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TATGTGTTGGCCTGGCTGCTG	0.537																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1168-1170)gCc>gAc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						152.0	125.0	134.0					5																	131726498		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131726498C>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1169C>A	5.37:g.131726498C>A	ENSP00000245407:p.Ala390Asp					SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D|SLC22A5_ENST00000479605.1_3'UTR	p.A390D	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1390	+		all_cancers(142;0.0751)|Breast(839;0.198)	390					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1169C>A	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423802	0.83667	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.79554	-1.28;-1.28	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.202170	0.52532	D	0.000065	D	0.89128	0.6627	M	0.90542	3.125	0.49130	D	0.999754	P;P	0.49447	0.924;0.872	P;P	0.49597	0.616;0.616	D	0.89610	0.3841	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;390	A2Q0V1;O76082	.;S22A5_HUMAN	D	390;414	ENSP00000245407:A390D;ENSP00000402760:A414D	ENSP00000245407:A390D	A	+	2	0	SLC22A5	131754397	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	GCC		0.537	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		74	332	1	0	2.0493e-37	1	2.46103e-37	74	332				
ATP6V1F	9296	broad.mit.edu	37	7	128505495	128505495	+	Missense_Mutation	SNP	C	C	T	rs572332618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128505495C>T	ENST00000249289.4	+	2	302	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	RP11-309L24.4_ENST00000461420.1_lincRNA|ATP6V1F_ENST00000492758.1_Missense_Mutation_p.R103W|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	75					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			lung(1)|ovary(1)|prostate(1)	3						AGAGATGGTGCGGCATGCCCT	0.587																																						ENST00000492758.1																			0				lung(1)|ovary(1)|prostate(1)	3						c.(307-309)Cgg>Tgg		ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F							75.0	67.0	70.0					7																	128505495		2203	4300	6503	SO:0001583	missense	9296				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr7:128505495C>T	D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"""ATPases / V-type"""	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.223C>T	7.37:g.128505495C>T	ENSP00000249289:p.Arg75Trp					ATP6V1F_ENST00000249289.4_Missense_Mutation_p.R75W	p.R103W	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN			3	308	+			75					C9J2K4|Q6IBA8	Missense_Mutation	SNP	ENST00000249289.4	37	c.307C>T	CCDS5807.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242052	0.79912	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	T;T	0.51817	0.69;0.69	5.02	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	H	0.97611	4.04	0.80722	D	1	P	0.35272	0.493	B	0.43478	0.421	T	0.76372	-0.2983	10	0.87932	D	0	-11.3352	12.7996	0.57578	0.425:0.575:0.0:0.0	.	75	Q16864	VATF_HUMAN	W	75;103	ENSP00000249289:R75W;ENSP00000417378:R103W	ENSP00000249289:R75W	R	+	1	2	ATP6V1F	128292731	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	3.472000	0.53114	0.455000	0.26910	0.591000	0.81541	CGG		0.587	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	NM_004231		37	204	0	0	0	1	0	37	204				
LYG1	129530	broad.mit.edu	37	2	99909020	99909020	+	Missense_Mutation	SNP	G	G	A	rs149258901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909020G>A	ENST00000409448.1	-	5	443	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LYG1_ENST00000308528.4_Missense_Mutation_p.R43C			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	43					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGGCCGTGACGTCTTCCAATC	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		16491	0.0		0.0	False		,,,				2504	0.002					ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(127-129)Cgt>Tgt		lysozyme G-like 1		G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	178.0	166.0	170.0		127	-0.6	0.0	2	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LYG1	NM_174898.2	180	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	43/195	99909020	4,13002	2203	4300	6503	SO:0001583	missense	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99909020G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.127C>T	2.37:g.99909020G>A	ENSP00000386923:p.Arg43Cys					LYG1_ENST00000308528.4_Missense_Mutation_p.R43C	p.R43C			Q8N1E2	LYG1_HUMAN			5	443	-			43					Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	c.127C>T	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256644	0.10185	6.81E-4	1.16E-4	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	5.07	-0.638	0.11500	Lysozyme-like domain (1);	0.951849	0.08712	N	0.904759	T	0.29850	0.0746	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29243	-1.0018	8	.	.	.	-2.7594	1.3392	0.02151	0.2605:0.1757:0.4246:0.1392	.	43	Q8N1E2	LYG1_HUMAN	C	43	.	.	R	-	1	0	LYG1	99275452	0.152000	0.22762	0.007000	0.13788	0.007000	0.05969	1.098000	0.31000	0.013000	0.14918	-0.742000	0.03525	CGT		0.512	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		80	382	0	0	0	1	0	80	382				
TRBV5-6	28609	broad.mit.edu	37	7	142131888	142131888	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142131888G>A	ENST00000390375.2	-	0	30									T cell receptor beta variable 5-6																		GGCACAGAGGGACAGGAAGCA	0.592																																						ENST00000390375.2																			0																				47.0	54.0	51.0					7																	142131888		1964	4135	6099			0							g.chr7:142131888G>A	L36092		7q34	2012-02-07			ENSG00000211728	ENSG00000211728		"""T cell receptors / TRB locus"""	12223	other	T cell receptor gene	"""T-cell receptor beta chain V region CTL-L17 -like"""					8650574	Standard	NG_001333		Approved	TRBV56, TCRBV5S2, TCRBV5S6			OTTHUMG00000158873		7.37:g.142131888G>A														0	30	-									RNA	SNP	ENST00000390375.2	37																																																																																						0.592	TRBV5-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352481.1	NG_001333		26	170	0	0	0	1	0	26	170				
CHD5	26038	broad.mit.edu	37	1	6215750	6215750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6215750C>A	ENST00000262450.3	-	4	514	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCCACTCGGCCATGAGCTGC	0.627																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(415-417)Gcc>Tcc		chromodomain helicase DNA binding protein 5							93.0	84.0	87.0					1																	6215750		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6215750C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.415G>T	1.37:g.6215750C>A	ENSP00000262450:p.Ala139Ser					CHD5_ENST00000378021.1_5'UTR	p.A139S	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	4	514	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	139					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.415G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021652	0.07634	.	.	ENSG00000116254	ENST00000262450	D	0.90004	-2.6	4.31	3.39	0.38822	.	0.360385	0.24296	N	0.039780	D	0.82300	0.5007	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.12156	0.007	T	0.73395	-0.3996	10	0.09590	T	0.72	-28.1265	12.3353	0.55062	0.0:0.9171:0.0:0.0829	.	139	Q8TDI0	CHD5_HUMAN	S	139	ENSP00000262450:A139S	ENSP00000262450:A139S	A	-	1	0	CHD5	6138337	1.000000	0.71417	0.984000	0.44739	0.369000	0.29798	2.566000	0.45948	0.955000	0.37878	-0.136000	0.14681	GCC		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		43	197	1	0	4.44401e-20	1	4.96976e-20	43	197				
HTR2B	3357	broad.mit.edu	37	2	231974067	231974067	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231974067T>G	ENST00000258400.3	-	4	1122	c.610A>C	c.(610-612)Aat>Cat	p.N204H	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	204					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	CAAGTGATATTGTTTGGGTTG	0.418																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(610-612)Aat>Cat		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						110.0	99.0	103.0					2																	231974067		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231974067T>G		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.610A>C	2.37:g.231974067T>G	ENSP00000258400:p.Asn204His					PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron	p.N204H	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1122	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	204					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.610A>C	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257398	0.80246	.	.	ENSG00000135914	ENST00000258400	T	0.32988	1.43	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.080696	0.85682	D	0.000000	T	0.51381	0.1671	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.98;0.986	T	0.48725	-0.9010	10	0.49607	T	0.09	.	16.0174	0.80450	0.0:0.0:0.0:1.0	.	19;204	B3VRC5;P41595	.;5HT2B_HUMAN	H	204	ENSP00000258400:N204H	ENSP00000258400:N204H	N	-	1	0	HTR2B	231682311	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.484000	0.81180	2.186000	0.69663	0.533000	0.62120	AAT		0.418	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		101	283	0	0	0	1	0	101	283				
LRRC8D	55144	broad.mit.edu	37	1	90399281	90399281	+	Silent	SNP	C	C	T	rs532560893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399281C>T	ENST00000337338.5	+	3	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	LRRC8D_ENST00000394593.3_Silent_p.C218C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	218					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGACAGCATGCGAAGACTCAG	0.443																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(652-654)tgC>tgT		leucine rich repeat containing 8 family, member D							60.0	60.0	60.0					1																	90399281		2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90399281C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.654C>T	1.37:g.90399281C>T						LRRC8D_ENST00000394593.3_Silent_p.C218C	p.C218C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1061	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	218					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.654C>T	CCDS726.1																																																																																				0.443	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		59	235	0	0	0	1	0	59	235				
CACNA2D3	55799	broad.mit.edu	37	3	55021769	55021769	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55021769C>T	ENST00000474759.1	+	31	2727	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.G893G|CACNA2D3_ENST00000490478.1_Silent_p.G799G|CACNA2D3_ENST00000415676.2_Silent_p.G893G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	893						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TAACAATGGGCTCCTTTAAAA	0.398																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2677-2679)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							125.0	120.0	121.0					3																	55021769		1820	4079	5899	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55021769C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2679C>T	3.37:g.55021769C>T						CACNA2D3_ENST00000415676.2_Silent_p.G893G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.G799G|CACNA2D3_ENST00000288197.5_Silent_p.G893G	p.G893G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	31	2727	+			893					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2679C>T	CCDS54598.1																																																																																				0.398	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			25	119	0	0	0	1	0	25	119				
LPIN1	23175	broad.mit.edu	37	2	11955257	11955257	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11955257A>C	ENST00000256720.2	+	17	2278	c.2185A>C	c.(2185-2187)Atg>Ctg	p.M729L	LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L|LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L|LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	729	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCCATCGGGATGGCGGACAT	0.542																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2185-2187)Atg>Ctg		lipin 1							56.0	56.0	56.0					2																	11955257		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11955257A>C	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2185A>C	2.37:g.11955257A>C	ENSP00000256720:p.Met729Leu					LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L|LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L	p.M729L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	17	2278	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		729			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2185A>C	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886297	0.91814	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.95	0.65309	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	L	0.41573	1.285	0.80722	D	1	P;D;B	0.67145	0.853;0.996;0.096	P;D;B	0.80764	0.717;0.994;0.345	T	0.81385	-0.0957	10	0.49607	T	0.09	-35.1722	14.6363	0.68692	1.0:0.0:0.0:0.0	.	230;814;729	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	814;771;735;729;459;230	ENSP00000397908:M814L;ENSP00000379406:M771L;ENSP00000401522:M735L;ENSP00000256720:M729L;ENSP00000379404:M459L;ENSP00000386120:M230L	ENSP00000256720:M729L	M	+	1	0	LPIN1	11872708	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.780000	0.91799	1.860000	0.53959	0.460000	0.39030	ATG		0.542	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		8	293	0	0	0	1	0	8	293				
CDH6	1004	broad.mit.edu	37	5	31316320	31316320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31316320C>T	ENST00000265071.2	+	9	1661	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACAGATAATCCAAAGCAAAG	0.368																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1396-1398)Cca>Tca		cadherin 6, type 2, K-cadherin (fetal kidney)							54.0	56.0	55.0					5																	31316320		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31316320C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1396C>T	5.37:g.31316320C>T	ENSP00000265071:p.Pro466Ser					CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	p.P466S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			9	1661	+			466			Cadherin 4.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1396C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468432	0.43839	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.02	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.102637	0.64402	D	0.000002	T	0.51312	0.1667	L	0.55213	1.73	0.58432	D	0.999999	B;B	0.33857	0.08;0.429	B;B	0.38378	0.074;0.272	T	0.49978	-0.8881	10	0.30078	T	0.28	.	15.1114	0.72359	0.1428:0.8572:0.0:0.0	.	466;466	P55285;P55285-2	CADH6_HUMAN;.	S	411;466	ENSP00000424843:P411S;ENSP00000265071:P466S	ENSP00000265071:P466S	P	+	1	0	CDH6	31352077	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.278000	0.78587	1.444000	0.47605	0.591000	0.81541	CCA		0.368	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		35	236	0	0	0	1	0	35	236				
RASAL1	8437	broad.mit.edu	37	12	113545942	113545942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113545942C>T	ENST00000261729.5	-	15	1775	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	RASAL1_ENST00000546530.1_Missense_Mutation_p.R488Q|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	487	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTTGGTCCCGAAGGTCAAA	0.557																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1462-1464)cGg>cAg		RAS protein activator like 1 (GAP1 like)							68.0	59.0	62.0					12																	113545942		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113545942C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1460G>A	12.37:g.113545942C>T	ENSP00000261729:p.Arg487Gln					RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q|RASAL1_ENST00000261729.5_Missense_Mutation_p.R487Q|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000418411.2_5'UTR	p.R488Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			15	1748	-			487			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1463G>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096439	0.76870	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.0	5.0	0.66597	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.110844	0.64402	D	0.000017	T	0.78868	0.4351	L	0.56396	1.775	0.54753	D	0.999981	P;P;P;P;P;P;P	0.52316	0.743;0.532;0.698;0.902;0.852;0.952;0.88	B;B;B;B;B;P;B	0.45971	0.2;0.221;0.126;0.319;0.263;0.499;0.213	T	0.82514	-0.0419	10	0.72032	D	0.01	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	487;487;487;500;488;487;487	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	488;487;487;487	ENSP00000450244:R488Q;ENSP00000261729:R487Q;ENSP00000395920:R487Q;ENSP00000448510:R487Q	ENSP00000261729:R487Q	R	-	2	0	RASAL1	112030325	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.280000	0.78610	2.323000	0.78572	0.555000	0.69702	CGG		0.557	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		49	147	0	0	0	1	0	49	147				
DEPDC5	9681	broad.mit.edu	37	22	32217617	32217617	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32217617C>A	ENST00000382112.3	+	22	2070	c.2000C>A	c.(1999-2001)gCt>gAt	p.A667D	DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A667D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	667					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATGAAGCTGCTGGAAGGTGA	0.522																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1999-2001)gCt>gAt		DEP domain containing 5							119.0	126.0	124.0					22																	32217617		2119	4242	6361	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32217617C>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2000C>A	22.37:g.32217617C>A	ENSP00000371546:p.Ala667Asp					DEPDC5_ENST00000400248.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382112.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D	p.A667D			O75140	DEPD5_HUMAN			23	2142	+			667					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2000C>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.184099|4.184099	0.78677|0.78677	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24908|.	1.85;1.9;1.83;1.9;1.83;1.9|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.058834|.	0.64402|.	D|.	0.000001|.	T|.	0.53481|.	0.1799|.	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.35272|.	0.418;0.493;0.039;0.181|.	B;B;B;B|.	0.26864|.	0.046;0.074;0.034;0.034|.	T|.	0.46020|.	-0.9221|.	10|.	0.16896|.	T|.	0.51|.	.|.	19.2671|19.2671	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667;667;667;667|.	B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;DEPD5_HUMAN|.	D|X	667|64	ENSP00000266091:A667D;ENSP00000383108:A667D;ENSP00000383105:A667D;ENSP00000371546:A667D;ENSP00000371545:A667D;ENSP00000383107:A667D|.	ENSP00000266091:A667D|.	A|C	+|+	2|3	0|2	DEPDC5|DEPDC5	30547617|30547617	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.999000|0.999000	0.98932|0.98932	5.624000|5.624000	0.67764|0.67764	2.801000|2.801000	0.96364|0.96364	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.522	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		152	720	1	0	7.52437e-61	1	9.46778e-61	152	720				
HIST1H1D	3007	broad.mit.edu	37	6	26234584	26234584	+	Missense_Mutation	SNP	G	G	A	rs563408211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234584G>A	ENST00000244534.5	-	1	632	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	193					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGGGGCTTTGGCCTTAGCTGG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15425	0.0		0.0	False		,,,				2504	0.0					ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(577-579)gCc>gTc		histone cluster 1, H1d							90.0	96.0	94.0					6																	26234584		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234584G>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.578C>T	6.37:g.26234584G>A	ENSP00000244534:p.Ala193Val						p.A193V	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	632	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	193					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.578C>T	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.110943	0.37242	.	.	ENSG00000124575	ENST00000244534	T	0.14144	2.53	5.12	4.25	0.50352	.	0.281601	0.28241	N	0.016063	T	0.02649	0.0080	N	0.08118	0	0.42787	D	0.993885	B	0.06786	0.001	B	0.09377	0.004	T	0.21042	-1.0257	10	0.72032	D	0.01	-16.8507	8.2884	0.31943	0.0797:0.0:0.7667:0.1536	.	193	P16402	H13_HUMAN	V	193	ENSP00000244534:A193V	ENSP00000244534:A193V	A	-	2	0	HIST1H1D	26342563	1.000000	0.71417	0.877000	0.34402	0.267000	0.26476	3.916000	0.56416	1.300000	0.44818	0.650000	0.86243	GCC		0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		128	493	0	0	0	1	0	128	493				
TFE3	7030	broad.mit.edu	37	X	48888050	48888050	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48888050G>T	ENST00000315869.7	-	10	1606	c.1347C>A	c.(1345-1347)tcC>tcA	p.S449S	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	449					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCGTGGCCAAGGAAAGCAGCC	0.587			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1345-1347)tcC>tcA		transcription factor binding to IGHM enhancer 3							54.0	49.0	51.0					X																	48888050		2203	4300	6503	SO:0001819	synonymous_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48888050G>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1347C>A	X.37:g.48888050G>T						TFE3_ENST00000493583.1_5'UTR	p.S449S	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1606	-			449					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	ENST00000315869.7	37	c.1347C>A	CCDS14315.3																																																																																				0.587	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		22	308	1	0	3.62473e-10	1	3.83521e-10	22	308				
HIF3A	64344	broad.mit.edu	37	19	46811543	46811543	+	Silent	SNP	C	C	T	rs373645502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46811543C>T	ENST00000377670.4	+	4	460	c.429C>T	c.(427-429)gaC>gaT	p.D143D	HIF3A_ENST00000420102.2_Silent_p.D92D|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000339613.2_Silent_p.D87D|HIF3A_ENST00000300862.3_Silent_p.D141D|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.D74D|RNU6-924P_ENST00000362926.1_RNA	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	143	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTTCAGGACGCCCTGACCC	0.607																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(259-261)gaC>gaT		hypoxia inducible factor 3, alpha subunit		C	,,,	2,4404	4.2+/-10.8	0,2,2201	126.0	114.0	118.0		222,423,429,222	-7.6	0.8	19		118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	74/601,141/668,143/670,74/451	46811543	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46811543C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.429C>T	19.37:g.46811543C>T						HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000420102.2_Silent_p.D92D|HIF3A_ENST00000377670.4_Silent_p.D143D|HIF3A_ENST00000244303.6_Silent_p.D74D|HIF3A_ENST00000300862.3_Silent_p.D141D|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000525854.1_3'UTR	p.D87D			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	4	516	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	143			PAS 1.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.261C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630319	0.14257	4.54E-4	0.0	ENSG00000124440	ENST00000472815	.	.	.	3.86	-7.63	0.01290	.	.	.	.	.	T	0.50684	0.1630	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57063	-0.7875	4	.	.	.	.	10.3415	0.43882	0.0:0.1631:0.1122:0.7247	.	.	.	.	C	116	.	.	R	+	1	0	HIF3A	51503383	0.000000	0.05858	0.823000	0.32752	0.993000	0.82548	-5.642000	0.00107	-1.573000	0.01659	0.561000	0.74099	CGC		0.607	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			100	475	0	0	0	1	0	100	475				
FAM129B	64855	broad.mit.edu	37	9	130270389	130270389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270389C>T	ENST00000373312.3	-	12	1738	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	509					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTAGGGGCCAGCTTCTTG	0.622																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1525-1527)Gcc>Acc		family with sequence similarity 129, member B							63.0	67.0	65.0					9																	130270389		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270389C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1525G>A	9.37:g.130270389C>T	ENSP00000362409:p.Ala509Thr					FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T|FAM129B_ENST00000468379.1_Intron	p.A509T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			12	1738	-			509					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1525G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092529	0.76756	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.26660	1.72;1.72	4.93	4.93	0.64822	.	0.353689	0.32134	N	0.006534	T	0.34019	0.0883	M	0.71036	2.16	0.45567	D	0.998511	D;P;P	0.53462	0.96;0.921;0.921	B;P;P	0.44772	0.384;0.46;0.46	T	0.21381	-1.0247	10	0.42905	T	0.14	-32.6963	15.6228	0.76820	0.0:1.0:0.0:0.0	.	159;496;509	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	T	496;159;509	ENSP00000362411:A496T;ENSP00000362409:A509T	ENSP00000362409:A509T	A	-	1	0	FAM129B	129310210	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.837000	0.27558	2.266000	0.75297	0.561000	0.74099	GCC		0.622	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		75	424	0	0	0	1	0	75	424				
FERMT1	55612	broad.mit.edu	37	20	6091159	6091159	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6091159C>A	ENST00000217289.4	-	5	1321		c.e5-1		FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCAGGACTTACTGCAAGGCAG	0.383																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.e5-1		fermitin family member 1							137.0	134.0	135.0					20																	6091159		2203	4300	6503	SO:0001630	splice_region_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6091159C>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.533-1G>T	20.37:g.6091159C>A						FERMT1_ENST00000536936.1_Intron		NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			5	1321	-								D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	ENST00000217289.4	37		CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943291	0.53079	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT1	6039159	1.000000	0.71417	0.999000	0.59377	0.614000	0.37383	5.684000	0.68197	2.756000	0.94617	0.655000	0.94253	.		0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	Intron	106	368	1	0	1.33835e-49	1	1.65573e-49	106	368				
MAP3K7CL	56911	broad.mit.edu	37	21	30521531	30521531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30521531C>T	ENST00000399947.2	+	7	669	c.392C>T	c.(391-393)tCc>tTc	p.S131F	MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.S25F|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.S131F|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.S31F	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	131						cytosol (GO:0005829)|nucleus (GO:0005634)											CCTGAAGACTCCATTCCTTTG	0.418																																						ENST00000399935.2																			0											c.(91-93)tCc>tTc		MAP3K7 C-terminal like							166.0	158.0	161.0					21																	30521531		2203	4300	6503	SO:0001583	missense	56911							g.chr21:30521531C>T	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.392C>T	21.37:g.30521531C>T	ENSP00000382828:p.Ser131Phe					MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.S131F|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.S25F|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.S131F|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.S31F	p.S31F							8	759	+								D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	c.92C>T	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552610	0.27739	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925;ENST00000451489	T;T	0.51817	0.69;0.69	4.49	2.66	0.31614	.	0.887861	0.09902	N	0.740977	T	0.40719	0.1128	L	0.54323	1.7	0.30889	N	0.730516	B;B	0.15473	0.0;0.013	B;B	0.12156	0.001;0.007	T	0.43261	-0.9402	10	0.45353	T	0.12	1.3396	5.3129	0.15841	0.1485:0.6289:0.1437:0.0789	.	31;131	B0EVZ8;P57077	.;TAK1L_HUMAN	F	25;131;31;31;131;31;31;31;31;31	ENSP00000343212:S131F;ENSP00000382828:S131F	ENSP00000345777:S31F	S	+	2	0	C21orf7	29443402	0.074000	0.21230	0.280000	0.24747	0.538000	0.34931	0.984000	0.29565	0.816000	0.34421	0.655000	0.94253	TCC		0.418	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		81	391	0	0	0	1	0	81	391				
PAPLN	89932	broad.mit.edu	37	14	73729383	73729383	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73729383C>A	ENST00000554301.1	+	18	2734	c.2571C>A	c.(2569-2571)ctC>ctA	p.L857L	PAPLN_ENST00000427855.1_Silent_p.L857L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Silent_p.L857L|PAPLN_ENST00000340738.5_Silent_p.L830L|PAPLN_ENST00000555445.1_Silent_p.L841L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	857						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTGGTGGTCTCTGGCGGCAAG	0.687																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(2569-2571)ctC>ctA		papilin, proteoglycan-like sulfated glycoprotein							10.0	12.0	12.0					14																	73729383		2188	4284	6472	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73729383C>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2571C>A	14.37:g.73729383C>A						PAPLN_ENST00000555445.1_Silent_p.L841L|PAPLN_ENST00000554301.1_Silent_p.L857L|PAPLN_ENST00000381166.3_Silent_p.L857L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.L830L	p.L857L			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	19	2673	+			857					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.2571C>A																																																																																					0.687	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		9	60	1	0	1.12685e-05	1	1.15515e-05	9	60				
SCCPDH	51097	broad.mit.edu	37	1	246922335	246922335	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246922335G>T	ENST00000366510.3	+	7	1071		c.e7-1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)							lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTCTTGCAGGTGGCCAATT	0.413																																						ENST00000366510.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17						c.e7-1		saccharopine dehydrogenase (putative)							235.0	229.0	231.0					1																	246922335		2203	4300	6503	SO:0001630	splice_region_variant	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246922335G>T		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.696-1G>T	1.37:g.246922335G>T								NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	7	1071	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)						Q8TAR0|Q9Y363	Splice_Site	SNP	ENST00000366510.3	37		CCDS31084.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543957	0.86022	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2117	0.98287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCCPDH	244988958	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.007000	0.88571	2.878000	0.98634	0.650000	0.86243	.		0.413	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002	Intron	38	983	1	0	4.65686e-17	1	5.13078e-17	38	983				
ARRDC4	91947	broad.mit.edu	37	15	98508838	98508838	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98508838A>G	ENST00000268042.6	+	2	480	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	106					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AGGTGAAGGCATCATTTTATT	0.308																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(316-318)Atc>Gtc		arrestin domain containing 4							114.0	117.0	116.0					15																	98508838		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98508838A>G	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.316A>G	15.37:g.98508838A>G	ENSP00000268042:p.Ile106Val					ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	p.I106V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		2	480	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		106					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.316A>G	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	4.406	0.075076	0.08485	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.12984	2.63;3.34	5.81	-1.79	0.07932	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	2.240820	0.01691	N	0.026654	T	0.06600	0.0169	N	0.11927	0.2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22556	-1.0213	10	0.11485	T	0.65	-10.3062	2.6754	0.05080	0.3704:0.1052:0.3795:0.1449	.	106;19	Q8NCT1;F5H824	ARRD4_HUMAN;.	V	19;106	ENSP00000443774:I19V;ENSP00000268042:I106V	ENSP00000268042:I106V	I	+	1	0	ARRDC4	96309842	0.066000	0.20996	0.015000	0.15790	0.964000	0.63967	-0.056000	0.11787	-0.328000	0.08539	0.455000	0.32223	ATC		0.308	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		73	337	0	0	0	1	0	73	337				
LRP1	4035	broad.mit.edu	37	12	57606279	57606279	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57606279G>A	ENST00000243077.3	+	89	14042	c.13576G>A	c.(13576-13578)Gag>Aag	p.E4526K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4526	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCACGGACGAGAAGCGAGA	0.667																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13576-13578)Gag>Aag		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						61.0	58.0	59.0					12																	57606279		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57606279G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13576G>A	12.37:g.57606279G>A	ENSP00000243077:p.Glu4526Lys						p.E4526K	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	89	14042	+			4526			Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13576G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403715	0.83230	.	.	ENSG00000123384	ENST00000243077	T	0.51817	0.69	4.66	3.75	0.43078	.	0.000000	0.53938	D	0.000054	T	0.66396	0.2785	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.70695	-0.4801	10	0.66056	D	0.02	.	13.5221	0.61574	0.0:0.1583:0.8417:0.0	.	4526	Q07954	LRP1_HUMAN	K	4526	ENSP00000243077:E4526K	ENSP00000243077:E4526K	E	+	1	0	LRP1	55892546	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	7.467000	0.80930	1.130000	0.42092	0.491000	0.48974	GAG		0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		59	313	0	0	0	1	0	59	313				
PPP1R3D	5509	broad.mit.edu	37	20	58514512	58514512	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58514512A>C	ENST00000370996.3	-	1	840	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	159					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GGCGGCGGGAAATCGGGCACC	0.672																																						ENST00000370996.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13						c.(475-477)Ttc>Gtc		protein phosphatase 1, regulatory subunit 3D							17.0	20.0	19.0					20																	58514512		2173	4247	6420	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514512A>C	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.475T>G	20.37:g.58514512A>C	ENSP00000360035:p.Phe159Val					FAM217B_ENST00000358293.3_Intron	p.F159V	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	840	-	all_lung(29;0.00391)		159					Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.475T>G	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951431	0.92660	.	.	ENSG00000132825	ENST00000370996	T	0.65916	-0.18	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	T	0.78610	0.4310	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81342	-0.0976	10	0.66056	D	0.02	-19.8349	14.9744	0.71261	1.0:0.0:0.0:0.0	.	159	O95685	PPR3D_HUMAN	V	159	ENSP00000360035:F159V	ENSP00000360035:F159V	F	-	1	0	PPP1R3D	57947907	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.064000	0.93933	1.941000	0.56285	0.379000	0.24179	TTC		0.672	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		46	161	0	0	0	1	0	46	161				
PLA2G6	8398	broad.mit.edu	37	22	38531055	38531055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531055C>A	ENST00000332509.3	-	6	1017	c.834G>T	c.(832-834)caG>caT	p.Q278H	PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q278H|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q278H	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	278					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGCTGTGGATCTGGCTGCTGT	0.647																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(832-834)caG>caT		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						78.0	73.0	75.0					22																	38531055		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531055C>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.834G>T	22.37:g.38531055C>A	ENSP00000333142:p.Gln278His					PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q278H|PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q278H	p.Q278H	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	1017	-	Melanoma(58;0.045)		278					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.834G>T	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.571138|4.571138	0.86542|0.86542	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.64803|.	-0.12;-0.12;-0.12|.	5.67|5.67	4.65|4.65	0.58169|0.58169	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62048|0.62048	0.2396|0.2396	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.91635|.	0.999;0.997;0.94|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|5	0.49607|.	T|.	0.09|.	-36.4843|-36.4843	14.9064|14.9064	0.70724|0.70724	0.0:0.9304:0.0:0.0696|0.0:0.9304:0.0:0.0696	.|.	243;278;278|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	H|I	278;139;278;278;206;278;243|83;30;109	ENSP00000333142:Q278H;ENSP00000335149:Q278H;ENSP00000386100:Q278H|.	ENSP00000333142:Q278H|.	Q|R	-|-	3|2	2|0	PLA2G6|PLA2G6	36861001|36861001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.159000|4.159000	0.58157|0.58157	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.647	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		7	221	1	0	0.000157383	1	0.000159814	7	221				
SGK223	157285	broad.mit.edu	37	8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN		1391							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCCGGGCTCCGCAGACGCCAG	0.647																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(4159-4161)gCg>gTg									37.0	46.0	43.0					8																	8175725		2019	4175	6194	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175725G>A																												ENST00000520004.1:c.4160C>T	8.37:g.8175725G>A	ENSP00000428054:p.Ala1387Val					SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V	p.A1387V			Q86YV5	SG223_HUMAN			6	4424	-			1387					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4160C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190369	0.78789	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14516	2.5;2.5	5.48	5.48	0.80851	.	0.054657	0.64402	D	0.000001	T	0.34948	0.0915	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01613	-1.1312	10	0.87932	D	0	.	18.7301	0.91731	0.0:0.0:1.0:0.0	.	1387	Q86YV5	SG223_HUMAN	V	1387	ENSP00000330930:A1387V;ENSP00000428054:A1387V	ENSP00000330930:A1387V	A	-	2	0	AC068353.1	8213135	1.000000	0.71417	0.163000	0.22734	0.480000	0.33159	9.825000	0.99386	2.748000	0.94277	0.462000	0.41574	GCG		0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			91	361	0	0	0	1	0	91	361				
CACNA1S	779	broad.mit.edu	37	1	201052427	201052427	+	Missense_Mutation	SNP	C	C	T	rs370861322		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201052427C>T	ENST00000362061.3	-	10	1482	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	419					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGAAAGATGCGGTTCCACTG	0.542																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1255-1257)cGc>cAc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	HIS/ARG	0,4406		0,0,2203	198.0	162.0	174.0		1256	4.6	1.0	1		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	419/1874	201052427	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201052427C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1256G>A	1.37:g.201052427C>T	ENSP00000355192:p.Arg419His					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	p.R419H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			10	1482	-			419					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1256G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000816	0.74818	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96913	-4.17;-4.08	4.59	4.59	0.56863	.	0.105688	0.64402	D	0.000003	D	0.97907	0.9312	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.98438	1.0585	10	0.54805	T	0.06	.	17.7262	0.88366	0.0:1.0:0.0:0.0	.	419	Q13698	CAC1S_HUMAN	H	419	ENSP00000355192:R419H;ENSP00000356307:R419H	ENSP00000355192:R419H	R	-	2	0	CACNA1S	199319050	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.694000	0.84235	2.232000	0.73038	0.643000	0.83706	CGC		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		87	524	0	0	0	1	0	87	524				
OR51V1	283111	broad.mit.edu	37	11	5221325	5221325	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221325T>C	ENST00000321255.1	-	1	605	c.606A>G	c.(604-606)cgA>cgG	p.R202R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTATTGAATCGGATGTCTG	0.413																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(604-606)cgA>cgG		olfactory receptor, family 51, subfamily V, member 1							58.0	55.0	56.0					11																	5221325		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221325T>C	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.606A>G	11.37:g.5221325T>C							p.R202R	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	605	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	202						Silent	SNP	ENST00000321255.1	37	c.606A>G	CCDS31375.1																																																																																				0.413	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		14	337	0	0	0	1	0	14	337				
HMCN1	83872	broad.mit.edu	37	1	186052023	186052023	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186052023C>T	ENST00000271588.4	+	57	9043	c.8814C>T	c.(8812-8814)atC>atT	p.I2938I	HMCN1_ENST00000367492.2_Silent_p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2938	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAACAGATATCGGCAGGTATG	0.328																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8812-8814)atC>atT		hemicentin 1							52.0	58.0	56.0					1																	186052023		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186052023C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8814C>T	1.37:g.186052023C>T						HMCN1_ENST00000367492.2_Silent_p.I2938I	p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			57	9043	+			2938			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8814C>T	CCDS30956.1																																																																																				0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		28	192	0	0	0	1	0	28	192				
CYP2B6	1555	broad.mit.edu	37	19	41509926	41509926	+	Silent	SNP	C	C	T	rs534437956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509926C>T	ENST00000324071.4	+	2	199	c.192C>T	c.(190-192)gaC>gaT	p.D64D	CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Silent_p.D24D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	64					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	AATATGGGGACGTCTTCACGG	0.532													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17296	0.0		0.0	False		,,,				2504	0.0					ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(190-192)gaC>gaT		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						49.0	49.0	49.0					19																	41509926		2203	4296	6499	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41509926C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.192C>T	19.37:g.41509926C>T						CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000330446.5_Silent_p.D24D	p.D64D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	199	+			64					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.192C>T	CCDS12570.1																																																																																				0.532	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		56	313	0	0	0	1	0	56	313				
ULK1	8408	broad.mit.edu	37	12	132394520	132394520	+	Missense_Mutation	SNP	G	G	A	rs377295019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132394520G>A	ENST00000321867.4	+	10	1133	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTACTGCAACGCAACCACAAG	0.687																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(781-783)cGc>cAc		unc-51 like autophagy activating kinase 1		G	HIS/ARG	0,4406		0,0,2203	34.0	45.0	41.0		782	5.3	0.9	12		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	ULK1	NM_003565.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	261/1051	132394520	1,13001	2203	4298	6501	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132394520G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.782G>A	12.37:g.132394520G>A	ENSP00000324560:p.Arg261His						p.R261H	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	10	1133	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		261			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.782G>A	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381883	0.82792	0.0	1.16E-4	ENSG00000177169	ENST00000321867;ENST00000537421	T;T	0.25250	1.81;1.81	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.46521	0.1397	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42481	-0.9449	10	0.87932	D	0	-37.8696	17.7077	0.88313	0.0:0.0:1.0:0.0	.	261	O75385	ULK1_HUMAN	H	261;178	ENSP00000324560:R261H;ENSP00000438953:R178H	ENSP00000324560:R261H	R	+	2	0	ULK1	130960473	1.000000	0.71417	0.943000	0.38184	0.142000	0.21351	4.701000	0.61810	2.474000	0.83562	0.313000	0.20887	CGC		0.687	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			41	187	0	0	0	1	0	41	187				
TET1	80312	broad.mit.edu	37	10	70406025	70406025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70406025C>T	ENST00000373644.4	+	4	3748	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1180					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAAAGTTGTCCTATATGTAT	0.378																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(3538-3540)tCc>tTc		tet methylcytosine dioxygenase 1							75.0	77.0	77.0					10																	70406025		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70406025C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3539C>T	10.37:g.70406025C>T	ENSP00000362748:p.Ser1180Phe						p.S1180F	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			4	3748	+			1180					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.3539C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325739	0.24080	.	.	ENSG00000138336	ENST00000373644	T	0.08634	3.07	5.12	5.12	0.69794	.	0.827937	0.10311	N	0.689957	T	0.14098	0.0341	N	0.19112	0.55	0.09310	N	1	P	0.52316	0.952	P	0.54460	0.753	T	0.34775	-0.9815	10	0.72032	D	0.01	.	15.7318	0.77810	0.0:1.0:0.0:0.0	.	1180	Q8NFU7	TET1_HUMAN	F	1180	ENSP00000362748:S1180F	ENSP00000362748:S1180F	S	+	2	0	TET1	70076031	0.790000	0.28787	0.039000	0.18376	0.008000	0.06430	4.544000	0.60691	2.394000	0.81467	0.563000	0.77884	TCC		0.378	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		69	343	0	0	0	1	0	69	343				
STK11IP	114790	broad.mit.edu	37	2	220479972	220479972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479972G>A	ENST00000456909.1	+	24	3116	c.3026G>A	c.(3025-3027)cGt>cAt	p.R1009H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1020					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTGTGCGTGTCAGGGAG	0.652																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(3025-3027)cGt>cAt		serine/threonine kinase 11 interacting protein							15.0	18.0	17.0					2																	220479972		2090	4208	6298	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220479972G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.3026G>A	2.37:g.220479972G>A	ENSP00000389383:p.Arg1009His					STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H	p.R1009H			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	3116	+		Renal(207;0.0183)	1020					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.3026G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.291|3.291	-0.144925|-0.144925	0.06627|0.06627	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000456909;ENST00000295641|ENST00000447191	T;T|.	0.04917|.	3.54;3.53|.	4.53|4.53	0.362|0.362	0.16113|0.16113	.|.	1.300970|.	0.04990|.	N|.	0.467081|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.29305|0.29305	-1.0016|-1.0016	10|5	0.30854|.	T|.	0.27|.	1.988|1.988	6.9002|6.9002	0.24279|0.24279	0.4374:0.0:0.5626:0.0|0.4374:0.0:0.5626:0.0	.|.	1020|.	Q8N1F8|.	S11IP_HUMAN|.	H|M	1009;1020|109	ENSP00000389383:R1009H;ENSP00000295641:R1020H|.	ENSP00000295641:R1020H|.	R|V	+|+	2|1	0|0	STK11IP|STK11IP	220188216|220188216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.210000|-0.210000	0.09345|0.09345	0.125000|0.125000	0.18397|0.18397	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		15	81	0	0	0	1	0	15	81				
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097730G>A	ENST00000361200.2	+	6	3528	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q	DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1121					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGTATCGGAGAAGCACT	0.512																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3361-3363)cGg>cAg		dual specificity phosphatase 27 (putative)							45.0	41.0	42.0					1																	167097730		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097730G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3362G>A	1.37:g.167097730G>A	ENSP00000354483:p.Arg1121Gln					DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q	p.R1121Q			Q5VZP5	DUS27_HUMAN			6	3528	+			1121					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3362G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522319	0.27211	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04551	3.6;3.6;3.6	5.4	4.42	0.53409	.	0.339926	0.22015	N	0.065807	T	0.02970	0.0088	M	0.65975	2.015	0.31764	N	0.632927	D	0.53462	0.96	B	0.39876	0.312	T	0.25779	-1.0122	10	0.87932	D	0	-10.1831	10.9711	0.47441	0.1692:0.0:0.8308:0.0	.	1121	Q5VZP5	DUS27_HUMAN	Q	1121	ENSP00000354483:R1121Q;ENSP00000271385:R1121Q;ENSP00000404874:R1121Q	ENSP00000271385:R1121Q	R	+	2	0	DUSP27	165364354	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	4.046000	0.57376	1.133000	0.42147	0.549000	0.68633	CGG		0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		31	188	0	0	0	1	0	31	188				
PPP1R11	6992	broad.mit.edu	37	6	30036959	30036959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30036959G>A	ENST00000376772.3	+	3	580	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PPP1R11_ENST00000376765.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376773.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	86						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GAGGGCTGTGGTCATACACAC	0.602																																					Pancreas(185;1767 3918 43793)	ENST00000376772.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(256-258)gGt>gAt		protein phosphatase 1, regulatory (inhibitor) subunit 11							76.0	79.0	78.0					6																	30036959		1509	2708	4217	SO:0001583	missense	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30036959G>A	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.257G>A	6.37:g.30036959G>A	ENSP00000365963:p.Gly86Asp					PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376773.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376765.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D	p.G86D	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN			3	580	+			86						Missense_Mutation	SNP	ENST00000376772.3	37	c.257G>A	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321611	0.60634	.	.	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.4	4.53	0.55603	.	0.152389	0.64402	D	0.000016	T	0.27524	0.0676	L	0.29908	0.895	0.53688	D	0.999974	P	0.37061	0.58	B	0.37601	0.254	T	0.26155	-1.0111	9	0.87932	D	0	-0.286	11.592	0.50951	0.0:0.0:0.8219:0.1781	.	86	O60927	PP1RB_HUMAN	D	34;86;34;34;34;34	.	ENSP00000365949:G34D	G	+	2	0	PPP1R11	30144938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.799000	0.85936	1.257000	0.44085	0.549000	0.68633	GGT		0.602	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		9	504	0	0	0	1	0	9	504				
RPP38	10557	broad.mit.edu	37	10	15145661	15145661	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15145661C>T	ENST00000378197.4	+	3	862	c.348C>T	c.(346-348)ggC>ggT	p.G116G	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.G116G|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	116					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TTGCCATTGGCGTTAACGAAG	0.483																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(346-348)ggC>ggT		ribonuclease P/MRP 38kDa subunit							79.0	76.0	77.0					10																	15145661		2203	4300	6503	SO:0001819	synonymous_variant	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145661C>T	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.348C>T	10.37:g.15145661C>T						RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.G116G|NMT2_ENST00000466201.1_5'UTR	p.G116G	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	862	+			116					B3KPY0|D3DRT8|Q53F71|Q8NHS8	Silent	SNP	ENST00000378197.4	37	c.348C>T	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	C	5.111	0.206024	0.09704	.	.	ENSG00000152465	ENST00000441445	.	.	.	5.67	-10.1	0.00402	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50030	-0.8875	5	0.34782	T	0.22	-24.5283	2.9592	0.05887	0.1391:0.1061:0.2789:0.4759	.	.	.	.	T	64	.	ENSP00000408127:A64T	A	-	1	0	NMT2	15185667	0.001000	0.12720	0.000000	0.03702	0.630000	0.37929	-1.467000	0.02352	-1.940000	0.01043	-0.932000	0.02703	GCC		0.483	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		61	225	0	0	0	1	0	61	225				
SKP2	6502	broad.mit.edu	37	5	36168460	36168460	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36168460A>G	ENST00000274255.6	+	5	778	c.582A>G	c.(580-582)gaA>gaG	p.E194E	SKP2_ENST00000274254.5_Silent_p.E194E|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTTATAGAAGTGTCCACCC	0.507																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(580-582)gaA>gaG		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							238.0	243.0	241.0					5																	36168460		2203	4300	6503	SO:0001819	synonymous_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36168460A>G	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.582A>G	5.37:g.36168460A>G						SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Silent_p.E194E|SKP2_ENST00000546211.1_Intron	p.E194E	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	778	+	all_lung(31;5.63e-05)		194					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	c.582A>G	CCDS3916.1																																																																																				0.507	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		260	1025	0	0	0	1	0	260	1025				
PASK	23178	broad.mit.edu	37	2	242079416	242079416	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242079416G>A	ENST00000405260.1	-	4	1182	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PASK_ENST00000234040.4_Silent_p.L162L|PASK_ENST00000403638.3_Silent_p.L162L|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Silent_p.L162L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	162	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGGCCAATCAGGTCCTGGCTG	0.587																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(484-486)Ctg>Ttg		PAS domain containing serine/threonine kinase							64.0	53.0	57.0					2																	242079416		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079416G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.484C>T	2.37:g.242079416G>A						PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Silent_p.L162L|PASK_ENST00000405260.1_Silent_p.L162L|PASK_ENST00000234040.4_Silent_p.L162L|PASK_ENST00000539818.1_Intron	p.L162L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	4	575	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	162			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.484C>T	CCDS2545.1																																																																																				0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		38	174	0	0	0	1	0	38	174				
PIK3C2A	5286	broad.mit.edu	37	11	17150888	17150888	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17150888T>G	ENST00000265970.7	-	12	2357	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	786	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TGCCCAAAGCTTCTGGTCCCT	0.383																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2356-2358)gaA>gaC		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						92.0	97.0	95.0					11																	17150888		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17150888T>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2358A>C	11.37:g.17150888T>G	ENSP00000265970:p.Glu786Asp					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D	p.E786D	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			12	2357	-			786					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2358A>C	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025382	0.75390	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77877	-1.13;-1.13	6.17	5.05	0.67936	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.70275	2.135	0.54753	D	0.999984	D	0.76494	0.999	D	0.80764	0.994	T	0.81540	-0.0886	10	0.28530	T	0.3	-26.1649	6.5547	0.22454	0.0:0.2214:0.0:0.7786	.	786	O00443	P3C2A_HUMAN	D	786;406	ENSP00000265970:E786D;ENSP00000438687:E406D	ENSP00000265970:E786D	E	-	3	2	PIK3C2A	17107464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.498000	0.45363	2.371000	0.80710	0.533000	0.62120	GAA		0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		85	316	0	0	0	1	0	85	316				
SHROOM4	57477	broad.mit.edu	37	X	50377526	50377526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50377526C>T	ENST00000289292.7	-	4	1830	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	SHROOM4_ENST00000376020.2_Missense_Mutation_p.S516N|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S400N			Q9ULL8	SHRM4_HUMAN	shroom family member 4	516					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGCTGCTCTGCTTGTTCTGTT	0.532																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1546-1548)aGc>aAc		shroom family member 4							66.0	53.0	57.0					X																	50377526		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377526C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1547G>A	X.37:g.50377526C>T	ENSP00000289292:p.Ser516Asn					SHROOM4_ENST00000289292.7_Missense_Mutation_p.S516N|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S400N	p.S516N	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1572	-	Ovarian(276;0.236)		516					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1547G>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.626808	0.00813	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15256	2.82;2.82;2.44	4.46	0.495	0.16890	.	0.850755	0.10644	N	0.650629	T	0.12561	0.0305	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	10	0.20519	T	0.43	.	4.3673	0.11230	0.1676:0.5467:0.0:0.2856	.	516	Q9ULL8	SHRM4_HUMAN	N	516;516;400	ENSP00000289292:S516N;ENSP00000365188:S516N;ENSP00000421450:S400N	ENSP00000289292:S516N	S	-	2	0	SHROOM4	50394266	0.000000	0.05858	0.019000	0.16419	0.141000	0.21300	-0.007000	0.12810	-0.044000	0.13491	0.600000	0.82982	AGC		0.532	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		13	414	0	0	0	1	0	13	414				
PABPN1	8106	broad.mit.edu	37	14	23793419	23793419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793419G>A	ENST00000216727.4	+	6	983	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A295T|PABPN1_ENST00000557702.1_Missense_Mutation_p.A140T|PABPN1_ENST00000397276.2_Missense_Mutation_p.A268T|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A295T|PABPN1_ENST00000556821.1_Missense_Mutation_p.A140T	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	268	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGCTACCGCGCCCGGACCAC	0.567																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(802-804)Gcc>Acc		poly(A) binding protein, nuclear 1							77.0	78.0	78.0					14																	23793419		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23793419G>A	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.802G>A	14.37:g.23793419G>A	ENSP00000216727:p.Ala268Thr					BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A295T|PABPN1_ENST00000557702.1_Missense_Mutation_p.A140T|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A295T|PABPN1_ENST00000556821.1_Missense_Mutation_p.A140T|PABPN1_ENST00000216727.4_Missense_Mutation_p.A268T	p.A268T						GBM - Glioblastoma multiforme(265;0.00643)	6	815	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.802G>A	CCDS9592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.804591|2.804591	0.50315|0.50315	.|.	.|.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836|ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702|ENST00000555295	T;T;T;T;T;T|T	0.74315|0.75367	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83|-0.93	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.063724|.	0.64402|.	D|.	0.000006|.	T|T	0.76378|0.76378	0.3979|0.3979	L|L	0.39898|0.39898	1.24|1.24	0.35639|0.35639	D|D	0.810858|0.810858	B;P;B|.	0.41265|.	0.099;0.744;0.395|.	B;B;B|.	0.34590|.	0.018;0.186;0.18|.	T|T	0.78432|0.78432	-0.2206|-0.2206	10|6	0.33141|.	T|.	0.24|.	-7.9693|-7.9693	18.1036|18.1036	0.89513|0.89513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;268;295|.	Q86U42;Q86U42-2;G3V5R7|.	PABP2_HUMAN;.;.|.	T|H	295;295;268;268;140;140|67	ENSP00000451320:A295T;ENSP00000452479:A295T;ENSP00000216727:A268T;ENSP00000380446:A268T;ENSP00000451970:A140T;ENSP00000450724:A140T|ENSP00000451592:R67H	ENSP00000216727:A268T|.	A|R	+|+	1|2	0|0	PABPN1;RP11-124D2.2|PABPN1	22863259|22863259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.232000|5.232000	0.65332|0.65332	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.567	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		25	507	0	0	0	1	0	25	507				
STK25	10494	broad.mit.edu	37	2	242441007	242441007	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242441007C>T	ENST00000316586.4	-	3	496	c.147G>A	c.(145-147)aaG>aaA	p.K49K	STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000405883.3_Intron|STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000405585.1_Intron|STK25_ENST00000543554.1_5'UTR	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGTCGATGATCTTGATGGCCA	0.567																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(145-147)aaG>aaA		serine/threonine kinase 25							220.0	159.0	180.0					2																	242441007		2203	4300	6503	SO:0001819	synonymous_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242441007C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.147G>A	2.37:g.242441007C>T						STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000405883.3_Intron|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405585.1_Intron	p.K49K	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	496	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	49			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	37	c.147G>A	CCDS2549.1																																																																																				0.567	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		79	333	0	0	0	1	0	79	333				
DNM1L	10059	broad.mit.edu	37	12	32884840	32884840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32884840G>A	ENST00000549701.1	+	12	1483	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y	DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y|DNM1L_ENST00000452533.2_Missense_Mutation_p.C470Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|YARS2_ENST00000551673.1_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	470	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGGTGACTTGTCTTCTTCGT	0.313																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1408-1410)tGt>tAt		dynamin 1-like							171.0	152.0	158.0					12																	32884840		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884840G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1409G>A	12.37:g.32884840G>A	ENSP00000450399:p.Cys470Tyr					DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|DNM1L_ENST00000549701.1_Missense_Mutation_p.C470Y	p.C470Y	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			12	1573	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		470			Interaction with GSK3B.|Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.1409G>A	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843653	0.51164	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.98	4.98	0.66077	Dynamin central domain (1);	0.152770	0.64402	D	0.000010	T	0.63628	0.2527	N	0.08118	0	0.80722	D	1	D;B;B;B;B;B	0.55172	0.97;0.089;0.089;0.122;0.089;0.037	P;B;B;B;B;B	0.51229	0.663;0.041;0.266;0.033;0.041;0.18	T	0.72597	-0.4245	10	0.66056	D	0.02	.	18.6016	0.91249	0.0:0.0:1.0:0.0	.	267;523;523;536;523;470	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	Y	470;536;470;483;470;483;470;470;267;483	ENSP00000415131:C470Y;ENSP00000449089:C483Y;ENSP00000450399:C470Y;ENSP00000350948:C483Y;ENSP00000266481:C470Y;ENSP00000448610:C470Y;ENSP00000404160:C267Y;ENSP00000370388:C483Y	ENSP00000266479:C470Y	C	+	2	0	DNM1L	32776107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.314000	0.65804	2.468000	0.83385	0.655000	0.94253	TGT		0.313	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		56	281	0	0	0	1	0	56	281				
SPSB3	90864	broad.mit.edu	37	16	1827764	1827764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827764C>A	ENST00000566339.1	-	6	1035	c.705G>T	c.(703-705)aaG>aaT	p.K235N	SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACTTCCTGTTCTTGAAAAAGG	0.617																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(703-705)aaG>aaT		splA/ryanodine receptor domain and SOCS box containing 3							76.0	71.0	73.0					16																	1827764		2199	4300	6499	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1827764C>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.705G>T	16.37:g.1827764C>A	ENSP00000457206:p.Lys235Asn					SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	p.K235N	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			6	1035	-			235			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.705G>T	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779810	0.31502	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.69806	-0.43	4.09	2.85	0.33270	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	L	0.58354	1.805	0.48395	D	0.999647	D	0.89917	1.0	D	0.83275	0.996	T	0.73665	-0.3911	10	0.62326	D	0.03	-18.758	5.8281	0.18564	0.0:0.6901:0.0:0.3099	.	235	Q6PJ21	SPSB3_HUMAN	N	235;39	ENSP00000301717:K235N	ENSP00000301717:K235N	K	-	3	2	SPSB3	1767765	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	1.369000	0.34227	1.821000	0.53095	0.561000	0.74099	AAG		0.617	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		51	216	1	0	4.0306e-16	1	4.4197e-16	51	216				
ARMC12	221481	broad.mit.edu	37	6	35705130	35705130	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35705130G>A	ENST00000373866.3	+	1	185				ARMC12_ENST00000288065.2_Splice_Site|ARMC12_ENST00000373869.3_Intron|RP3-510O8.4_ENST00000452048.1_RNA			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12							nucleus (GO:0005634)											GGGCCCAAAGGTGATGCCTCC	0.622											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288065.2																			0											c.e1+1		armadillo repeat containing 12							47.0	48.0	47.0					6																	35705130		2203	4300	6503	SO:0001627	intron_variant	221481						binding	g.chr6:35705130G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.163+82G>A	6.37:g.35705130G>A			OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	ARMC12_ENST00000373866.3_Intron|ARMC12_ENST00000373869.3_Intron		NM_145028.3	NP_659465.2	Q5T9G4	CF081_HUMAN			1	271	+								Q8NEB2|Q96LL8	Splice_Site	SNP	ENST00000373866.3	37			.	.	.	.	.	.	.	.	.	.	G	15.66	2.900133	0.52227	.	.	ENSG00000157343	ENST00000288065	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2768	0.54739	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf81	35813108	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.670000	0.46833	2.270000	0.75569	0.456000	0.33151	.		0.622	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		28	257	0	0	0	1	0	28	257				
STAB1	23166	broad.mit.edu	37	3	52538065	52538065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52538065G>T	ENST00000321725.6	+	10	1120	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	348					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGAAAGCGAGGTGGGGGATG	0.711																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1042-1044)gaG>gaT		stabilin 1							26.0	21.0	23.0					3																	52538065		2193	4290	6483	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538065G>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1044G>T	3.37:g.52538065G>T	ENSP00000312946:p.Glu348Asp						p.E348D	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	10	1120	+			348					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1044G>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688096	0.29962	.	.	ENSG00000010327	ENST00000321725	T	0.20069	2.1	4.7	2.85	0.33270	FAS1 domain (1);	0.144064	0.46758	D	0.000268	T	0.31482	0.0798	M	0.66939	2.045	0.33620	D	0.604698	P;D	0.56746	0.943;0.977	P;P	0.55749	0.459;0.783	T	0.44436	-0.9328	10	0.46703	T	0.11	.	6.6079	0.22735	0.2166:0.0:0.7834:0.0	.	348;348	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	D	348	ENSP00000312946:E348D	ENSP00000312946:E348D	E	+	3	2	STAB1	52513105	1.000000	0.71417	0.994000	0.49952	0.597000	0.36814	1.692000	0.37731	1.101000	0.41535	0.462000	0.41574	GAG		0.711	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		19	55	1	0	6.94344e-10	1	7.33246e-10	19	55				
DYRK1B	9149	broad.mit.edu	37	19	40319092	40319092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40319092C>T	ENST00000593685.1	-	6	1120	c.652G>A	c.(652-654)Gcg>Acg	p.A218T	DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGCTGCTGCGCCAGCTTCCGG	0.597																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(652-654)Gcg>Acg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							70.0	65.0	66.0					19																	40319092		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40319092C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.652G>A	19.37:g.40319092C>T	ENSP00000469863:p.Ala218Thr					DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T	p.A218T			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	1120	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		218			Protein kinase.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.652G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	30	5.058047	0.93846	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.67698	-0.28;-0.28;-0.28	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	L	0.35288	1.05	0.80722	D	1	D;D;D	0.71674	0.969;0.98;0.998	P;D;D	0.74023	0.835;0.917;0.982	T	0.69807	-0.5045	10	0.31617	T	0.26	.	17.8657	0.88794	0.0:1.0:0.0:0.0	.	218;218;218	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	T	218	ENSP00000312789:A218T;ENSP00000221803:A218T;ENSP00000403182:A218T	ENSP00000312789:A218T	A	-	1	0	DYRK1B	45010932	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.796000	0.85898	2.826000	0.97356	0.491000	0.48974	GCG		0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		23	102	0	0	0	1	0	23	102				
KIAA1024	23251	broad.mit.edu	37	15	79760664	79760664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79760664G>A	ENST00000305428.3	+	4	2764	c.2689G>A	c.(2689-2691)Gct>Act	p.A897T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	897						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCTCTGATCGCTGCTGCGGC	0.458																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2689-2691)Gct>Act		KIAA1024							77.0	67.0	70.0					15																	79760664		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79760664G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2689G>A	15.37:g.79760664G>A	ENSP00000307461:p.Ala897Thr						p.A897T	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			4	2764	+			897					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2689G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	1.227	-0.625106	0.03636	.	.	ENSG00000169330	ENST00000305428	T	0.39997	1.05	5.67	0.306	0.15806	.	0.554149	0.19760	N	0.106696	T	0.13628	0.0330	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.23726	-1.0180	9	.	.	.	.	4.7925	0.13256	0.362:0.0:0.5035:0.1345	.	897	Q9UPX6	K1024_HUMAN	T	897	ENSP00000307461:A897T	.	A	+	1	0	KIAA1024	77547719	0.425000	0.25498	0.001000	0.08648	0.062000	0.15995	1.620000	0.36976	0.064000	0.16427	-0.122000	0.15005	GCT		0.458	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		28	110	0	0	0	1	0	28	110				
ZNF318	24149	broad.mit.edu	37	6	43324962	43324962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43324962C>A	ENST00000361428.2	-	3	1167	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	364					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAGAATATCCTGGCTCCGAT	0.512																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1090-1092)Gga>Tga		zinc finger protein 318							176.0	144.0	155.0					6																	43324962		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43324962C>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1090G>T	6.37:g.43324962C>A	ENSP00000354964:p.Gly364*					ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	p.G364*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		3	1167	-			364					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.1090G>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	37	6.181517	0.97352	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	5.64	0.86602	.	0.175232	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6293	13.5617	0.61793	0.0:0.7976:0.2024:0.0	.	.	.	.	X	364	.	ENSP00000323032:G364X	G	-	1	0	ZNF318	43432940	0.992000	0.36948	1.000000	0.80357	0.972000	0.66771	3.062000	0.49971	2.663000	0.90544	0.650000	0.86243	GGA		0.512	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		68	315	1	0	1.42676e-28	1	1.66098e-28	68	315				
ZNF676	163223	broad.mit.edu	37	19	22363492	22363492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363492C>T	ENST00000397121.2	-	3	1344	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTCCCGCATTCTTCA	0.408																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1027-1029)Ggg>Agg		zinc finger protein 676							81.0	88.0	86.0					19																	22363492		2179	4283	6462	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363492C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1027G>A	19.37:g.22363492C>T	ENSP00000380310:p.Gly343Arg						p.G343R	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1344	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	343					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1027G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.10	2.137376	0.37728	.	.	ENSG00000196109	ENST00000397121	T	0.01484	4.84	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	M	0.84082	2.675	0.29973	N	0.818377	D	0.89917	1.0	D	0.79784	0.993	T	0.02505	-1.1149	9	0.72032	D	0.01	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	343	Q8N7Q3	ZN676_HUMAN	R	343	ENSP00000380310:G343R	ENSP00000380310:G343R	G	-	1	0	ZNF676	22155332	0.057000	0.20700	0.002000	0.10522	0.002000	0.02628	0.660000	0.25009	0.192000	0.20272	0.195000	0.17529	GGG		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		75	505	0	0	0	1	0	75	505				
FAM179A	165186	broad.mit.edu	37	2	29258407	29258407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29258407G>A	ENST00000379558.4	+	17	2654	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	768										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCAGCTACGGGAGCTGACA	0.662																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2302-2304)cGg>cAg		family with sequence similarity 179, member A							17.0	16.0	16.0					2																	29258407		2197	4294	6491	SO:0001583	missense	165186						binding	g.chr2:29258407G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2303G>A	2.37:g.29258407G>A	ENSP00000368876:p.Arg768Gln					FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q	p.R768Q	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			17	2654	+			768					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2303G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138539	0.56936	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.13901	2.55;2.55	4.74	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.231983	0.29307	N	0.012538	T	0.23210	0.0561	L	0.60455	1.87	0.29437	N	0.859426	D;D;D	0.71674	0.991;0.998;0.998	P;P;P	0.59115	0.69;0.75;0.852	T	0.02805	-1.1108	10	0.45353	T	0.12	.	6.4891	0.22105	0.2624:0.0:0.7376:0.0	.	713;768;66	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	Q	768;713	ENSP00000368876:R768Q;ENSP00000384699:R713Q	ENSP00000368876:R768Q	R	+	2	0	FAM179A	29111911	1.000000	0.71417	0.995000	0.50966	0.142000	0.21351	3.093000	0.50217	2.196000	0.70406	0.561000	0.74099	CGG		0.662	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		12	35	0	0	0	1	0	12	35				
MFSD7	84179	broad.mit.edu	37	4	676654	676654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676654G>A	ENST00000404286.2	-	9	1195	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	MFSD7_ENST00000347950.5_Silent_p.L275L|MFSD7_ENST00000515118.1_Silent_p.L297L|MFSD7_ENST00000503156.1_Silent_p.L329L|MFSD7_ENST00000322224.4_Silent_p.L393L	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	394					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCATTGCCAGCATGATGAGT	0.642																																						ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1177-1179)Ctg>Ttg		major facilitator superfamily domain containing 7							81.0	67.0	72.0					4																	676654		2198	4299	6497	SO:0001819	synonymous_variant	84179				transmembrane transport	integral to membrane		g.chr4:676654G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1180C>T	4.37:g.676654G>A						MFSD7_ENST00000503156.1_Silent_p.L329L|MFSD7_ENST00000404286.2_Silent_p.L394L|MFSD7_ENST00000515118.1_Silent_p.L297L|MFSD7_ENST00000347950.5_Silent_p.L275L	p.L393L			Q6UXD7	MFSD7_HUMAN			9	1490	-			394					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Silent	SNP	ENST00000404286.2	37	c.1177C>T																																																																																					0.642	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		18	73	0	0	0	1	0	18	73				
ZNF408	79797	broad.mit.edu	37	11	46726961	46726961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726961C>T	ENST00000311764.2	+	5	1941	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTCACGAGCGCCTGCACTC	0.652																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1711-1713)Cgc>Tgc		zinc finger protein 408							25.0	25.0	25.0					11																	46726961		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726961C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1711C>T	11.37:g.46726961C>T	ENSP00000309606:p.Arg571Cys						p.R571C	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1941	+			571						Missense_Mutation	SNP	ENST00000311764.2	37	c.1711C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299337	0.60195	.	.	ENSG00000175213	ENST00000311764	T	0.25749	1.78	5.23	3.24	0.37175	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000535	T	0.29491	0.0735	M	0.79123	2.44	0.52501	D	0.999957	P;P	0.47253	0.892;0.892	B;B	0.42112	0.376;0.376	T	0.14420	-1.0473	10	0.87932	D	0	-33.5023	7.5133	0.27585	0.0:0.7036:0.1398:0.1566	.	563;571	B4DXY4;Q9H9D4	.;ZN408_HUMAN	C	571	ENSP00000309606:R571C	ENSP00000309606:R571C	R	+	1	0	ZNF408	46683537	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.502000	0.35704	1.205000	0.43262	0.462000	0.41574	CGC		0.652	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		34	162	0	0	0	1	0	34	162				
ANKS4B	257629	broad.mit.edu	37	16	21261844	21261844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21261844G>T	ENST00000311620.5	+	2	1030	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	319					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGATGAAGAGGGAGAGGAAA	0.507																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(955-957)gaG>gaT		ankyrin repeat and sterile alpha motif domain containing 4B							151.0	160.0	157.0					16																	21261844		2089	4223	6312	SO:0001583	missense	257629							g.chr16:21261844G>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.957G>T	16.37:g.21261844G>T	ENSP00000308772:p.Glu319Asp						p.E319D	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	1030	+			319						Missense_Mutation	SNP	ENST00000311620.5	37	c.957G>T	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058951	0.01950	.	.	ENSG00000175311	ENST00000311620	T	0.41065	1.01	5.87	0.135	0.14775	.	0.583457	0.18380	N	0.142989	T	0.30386	0.0763	L	0.60455	1.87	0.32789	N	0.501461	B	0.15930	0.015	B	0.14578	0.011	T	0.31420	-0.9944	10	0.12430	T	0.62	-7.3885	5.6077	0.17389	0.3447:0.2906:0.3646:0.0	.	319	Q8N8V4	ANS4B_HUMAN	D	319	ENSP00000308772:E319D	ENSP00000308772:E319D	E	+	3	2	ANKS4B	21169345	0.000000	0.05858	0.282000	0.24776	0.009000	0.06853	-0.491000	0.06474	0.053000	0.16036	-0.283000	0.09986	GAG		0.507	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		39	196	1	0	4.14481e-20	1	4.63599e-20	39	196				
KIF2B	84643	broad.mit.edu	37	17	51901131	51901131	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901131T>C	ENST00000268919.4	+	1	893	c.737T>C	c.(736-738)gTg>gCg	p.V246A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	246	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGGTTATGGTGCATGAGTCC	0.547																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(736-738)gTg>gCg		kinesin family member 2B							129.0	105.0	113.0					17																	51901131		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901131T>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.737T>C	17.37:g.51901131T>C	ENSP00000268919:p.Val246Ala						p.V246A	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	893	+			246			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.737T>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327754	0.81690	.	.	ENSG00000141200	ENST00000268919	T	0.18810	2.19	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.46442	D	0.000283	T	0.43055	0.1230	M	0.82056	2.57	0.46564	D	0.999102	P	0.46706	0.883	P	0.53722	0.733	T	0.43180	-0.9407	10	0.72032	D	0.01	.	15.3186	0.74102	0.0:0.0:0.0:1.0	.	246	Q8N4N8	KIF2B_HUMAN	A	246	ENSP00000268919:V246A	ENSP00000268919:V246A	V	+	2	0	KIF2B	49256130	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.941000	0.87700	2.258000	0.74832	0.533000	0.62120	GTG		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		7	284	0	0	0	1	0	7	284				
EPS15	2060	broad.mit.edu	37	1	51913785	51913785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51913785G>A	ENST00000371733.3	-	9	680	c.584C>T	c.(583-585)gCa>gTa	p.A195V	EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	195	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTCTCCAGTGCACAGTATAC	0.428			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(583-585)gCa>gTa		epidermal growth factor receptor pathway substrate 15							165.0	159.0	161.0					1																	51913785		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51913785G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.584C>T	1.37:g.51913785G>A	ENSP00000360798:p.Ala195Val					EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	p.A195V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			9	680	-			195			EF-hand 1.|EH 2.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.584C>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574835	0.96553	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.26518	1.73;1.73	5.75	5.75	0.90469	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.32204	N	0.006426	T	0.50582	0.1624	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.25082	-1.0142	10	0.33141	T	0.24	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	195;195	B1AUU8;P42566	.;EPS15_HUMAN	V	195	ENSP00000360795:A195V;ENSP00000360798:A195V	ENSP00000360795:A195V	A	-	2	0	EPS15	51686373	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GCA		0.428	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		47	351	0	0	0	1	0	47	351				
C10orf88	80007	broad.mit.edu	37	10	124691977	124691977	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124691977T>C	ENST00000481909.1	-	6	1528	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	435										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTCTCCAGAGTCATAATGTCT	0.378																																						ENST00000481909.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18						c.(1303-1305)gAc>gGc		chromosome 10 open reading frame 88							93.0	89.0	91.0					10																	124691977		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124691977T>C	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1304A>G	10.37:g.124691977T>C	ENSP00000419126:p.Asp435Gly					C10orf88_ENST00000368891.5_5'UTR	p.D435G	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	6	1528	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	435					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.1304A>G	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136030	0.37728	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.83	3.67	0.42095	.	0.314175	0.26103	U	0.026322	T	0.53206	0.1782	M	0.69823	2.125	0.34834	D	0.740018	B	0.27997	0.197	B	0.28465	0.09	T	0.60954	-0.7160	9	0.66056	D	0.02	.	6.5949	0.22667	0.1534:0.0:0.1601:0.6865	.	435	Q9H8K7	CJ088_HUMAN	G	435	.	ENSP00000419126:D435G	D	-	2	0	C10orf88	124681967	0.996000	0.38824	0.979000	0.43373	0.974000	0.67602	0.855000	0.27805	0.655000	0.30866	0.533000	0.62120	GAC		0.378	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		51	223	0	0	0	1	0	51	223				
CP	1356	broad.mit.edu	37	3	148939510	148939510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148939510A>G	ENST00000264613.6	-	1	332	c.70T>C	c.(70-72)Tat>Cat	p.Y24H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	24	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCAATGTAATAATGCTTTTCT	0.353																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(70-72)Tat>Cat		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						69.0	71.0	70.0					3																	148939510		2203	4299	6502	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148939510A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.70T>C	3.37:g.148939510A>G	ENSP00000264613:p.Tyr24His						p.Y24H	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		1	332	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	24			F5/8 type A 1.|Plastocyanin-like 1.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.70T>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830786	0.71258	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.99735	-5.42;-6.58	5.2	5.2	0.72013	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	L	0.60904	1.88	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98164	1.0448	10	0.62326	D	0.03	-29.6919	14.1762	0.65542	1.0:0.0:0.0:0.0	.	24;24	A8K5A4;P00450	.;CERU_HUMAN	H	24	ENSP00000264613:Y24H;ENSP00000426888:Y24H	ENSP00000264613:Y24H	Y	-	1	0	CP	150422200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.316000	0.59178	2.097000	0.63578	0.482000	0.46254	TAT		0.353	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		70	280	0	0	0	1	0	70	280				
PCDH8	5100	broad.mit.edu	37	13	53419069	53419069	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419069C>A	ENST00000377942.3	-	3	3043		c.e3-1		PCDH8_ENST00000338862.4_Splice_Site	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8						cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCCACAGTCCTAATACGAAA	0.552																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.e3-1		protocadherin 8							57.0	46.0	49.0					13																	53419069		2203	4300	6503	SO:0001630	splice_region_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419069C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2840-1G>T	13.37:g.53419069C>A						PCDH8_ENST00000338862.4_Splice_Site		NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3043	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Splice_Site	SNP	ENST00000377942.3	37		CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938520	0.52972	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH8	52317070	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	7.487000	0.81328	2.700000	0.92200	0.563000	0.77884	.		0.552	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	Intron	16	240	1	0	6.49762e-13	1	6.99513e-13	16	240				
TRAF4	9618	broad.mit.edu	37	17	27076400	27076400	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27076400G>A	ENST00000262395.5	+	7	1347	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Intron|AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	406	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACGTCACTGAGACCTTCCACC	0.577																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1216-1218)gaG>gaA		TNF receptor-associated factor 4							63.0	58.0	59.0					17																	27076400		2203	4300	6503	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27076400G>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1218G>A	17.37:g.27076400G>A						TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Intron	p.E406E	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		7	1347	+	Lung NSC(42;0.01)		406			MATH.		O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.1218G>A	CCDS11243.1																																																																																				0.577	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		64	258	0	0	0	1	0	64	258				
CFP	5199	broad.mit.edu	37	X	47487033	47487033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47487033G>A	ENST00000396992.3	-	4	531	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000377005.2_Silent_p.G137G|CFP_ENST00000247153.3_Silent_p.G137G	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	137	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CAGACCAGCCGCCCATCTCTG	0.612																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(409-411)ggC>ggT		complement factor properdin							11.0	12.0	12.0					X																	47487033		2197	4282	6479	SO:0001819	synonymous_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47487033G>A	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.411C>T	X.37:g.47487033G>A						CFP_ENST00000377005.2_Silent_p.G137G|CFP_ENST00000396992.3_Silent_p.G137G	p.G137G	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			5	652	-			137			TSP type-1 2.		O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	c.411C>T	CCDS14282.1																																																																																				0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		14	65	0	0	0	1	0	14	65				
TBCC	6903	broad.mit.edu	37	6	42713042	42713042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42713042G>A	ENST00000372876.1	-	1	792	c.770C>T	c.(769-771)gCc>gTc	p.A257V	TBCC_ENST00000244625.2_Missense_Mutation_p.A257V	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	257	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGTTGGCAGGCCACTGCCAG	0.612																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(769-771)gCc>gTc		tubulin folding cofactor C							74.0	66.0	69.0					6																	42713042		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713042G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.770C>T	6.37:g.42713042G>A	ENSP00000361967:p.Ala257Val					TBCC_ENST00000372876.1_Missense_Mutation_p.A257V	p.A257V			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	1333	-	Colorectal(47;0.196)		257			C-CAP/cofactor C-like.		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.770C>T	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173846	0.94807	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.87256	-2.23;-2.23	5.14	5.14	0.70334	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.121363	0.56097	D	0.000036	D	0.91513	0.7320	M	0.81942	2.565	0.58432	D	0.999994	P	0.52842	0.956	P	0.56916	0.809	D	0.91910	0.5539	10	0.59425	D	0.04	-10.8047	18.9802	0.92752	0.0:0.0:1.0:0.0	.	257	Q15814	TBCC_HUMAN	V	257	ENSP00000361967:A257V;ENSP00000244625:A257V	ENSP00000244625:A257V	A	-	2	0	TBCC	42821020	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.550000	0.86006	0.467000	0.42956	GCC		0.612	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		33	317	0	0	0	1	0	33	317				
PCSK9	255738	broad.mit.edu	37	1	55523714	55523714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55523714G>A	ENST00000302118.5	+	8	1476	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	396	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACCAGGCATTGCAGCCATGAT	0.592																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1186-1188)Gca>Aca		proprotein convertase subtilisin/kexin type 9							66.0	61.0	63.0					1																	55523714		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523714G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1186G>A	1.37:g.55523714G>A	ENSP00000303208:p.Ala396Thr					PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T	p.A396T	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			8	1476	+			396			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1186G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640571	0.47153	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.89617	-2.54;-2.54	4.39	2.46	0.29980	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.376195	0.24873	N	0.034901	D	0.89357	0.6692	M	0.83953	2.67	0.09310	N	1	P	0.45283	0.855	B	0.43331	0.416	T	0.82133	-0.0608	10	0.56958	D	0.05	-1.1614	11.0881	0.48099	0.0:0.1384:0.7179:0.1437	.	396	Q8NBP7	PCSK9_HUMAN	T	396;196	ENSP00000303208:A396T;ENSP00000441859:A196T	ENSP00000303208:A396T	A	+	1	0	PCSK9	55296302	0.511000	0.26179	0.003000	0.11579	0.118000	0.20060	3.058000	0.49939	0.380000	0.24823	0.563000	0.77884	GCA		0.592	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		40	448	0	0	0	1	0	40	448				
KCNH3	23416	broad.mit.edu	37	12	49933258	49933258	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49933258C>T	ENST00000257981.6	+	1	319	c.59C>T	c.(58-60)aCg>aTg	p.T20M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	20	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCATCGCTACGCGCTTCGAC	0.746																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(58-60)aCg>aTg		potassium voltage-gated channel, subfamily H (eag-related), member 3							24.0	24.0	24.0					12																	49933258		2203	4298	6501	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49933258C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.59C>T	12.37:g.49933258C>T	ENSP00000257981:p.Thr20Met						p.T20M	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			1	319	+			20			PAS.		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.59C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969310	0.74246	.	.	ENSG00000135519	ENST00000257981	D	0.98762	-5.12	3.49	3.49	0.39957	PAS (1);	0.000000	0.33959	N	0.004391	D	0.98760	0.9583	M	0.83953	2.67	0.44852	D	0.997869	D	0.76494	0.999	P	0.59643	0.861	D	0.98832	1.0751	10	0.66056	D	0.02	.	12.8748	0.57984	0.0:1.0:0.0:0.0	.	20	Q9ULD8	KCNH3_HUMAN	M	20	ENSP00000257981:T20M	ENSP00000257981:T20M	T	+	2	0	KCNH3	48219525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	1.954000	0.56735	0.561000	0.74099	ACG		0.746	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		32	125	0	0	0	1	0	32	125				
SERPINA6	866	broad.mit.edu	37	14	94770780	94770780	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94770780A>G	ENST00000341584.3	-	5	1339	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	398					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AACCCTCGCCAGGAAAAGGCT	0.532																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(1192-1194)cTg>cCg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						139.0	121.0	127.0					14																	94770780		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94770780A>G	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1193T>C	14.37:g.94770780A>G	ENSP00000342850:p.Leu398Pro						p.L398P	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1339	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	398					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.1193T>C	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669831	0.47677	.	.	ENSG00000170099	ENST00000341584	D	0.85629	-2.01	4.83	4.83	0.62350	Serpin domain (3);	0.409870	0.20102	N	0.099210	D	0.93687	0.7983	M	0.93062	3.375	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.94709	0.7890	10	0.87932	D	0	.	13.0635	0.59020	1.0:0.0:0.0:0.0	.	398	P08185	CBG_HUMAN	P	398	ENSP00000342850:L398P	ENSP00000342850:L398P	L	-	2	0	SERPINA6	93840533	0.995000	0.38212	0.077000	0.20336	0.133000	0.20885	6.149000	0.71795	2.164000	0.68074	0.533000	0.62120	CTG		0.532	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		10	352	0	0	0	1	0	10	352				
DNAAF3	352909	broad.mit.edu	37	19	55677365	55677365	+	Missense_Mutation	SNP	G	G	T	rs200206266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55677365G>T	ENST00000524407.2	-	3	122	c.89C>A	c.(88-90)cCt>cAt	p.P30H	DNAAF3_ENST00000455045.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P77H|DNAAF3_ENST00000527223.2_Missense_Mutation_p.P98H|snoU13_ENST00000459370.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	30					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GTCCACAGGAGGACCTGGCAA	0.592											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527223.2																			0											c.(292-294)cCt>cAt		dynein, axonemal, assembly factor 3							46.0	54.0	51.0					19																	55677365		2082	4228	6310	SO:0001583	missense	352909							g.chr19:55677365G>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.89C>A	19.37:g.55677365G>T	ENSP00000432046:p.Pro30His		OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	DNAAF3_ENST00000524407.2_Missense_Mutation_p.P30H|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P77H	p.P98H	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			3	294	-			30					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.293C>A	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342162	0.61073	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.19250	2.16	4.04	4.04	0.47022	.	0.537042	0.17764	N	0.162820	T	0.37972	0.1023	L	0.46157	1.445	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.762	D;D;B	0.91635	0.999;0.999;0.322	T	0.03807	-1.1002	10	0.38643	T	0.18	-15.3588	13.5725	0.61856	0.0:0.0:1.0:0.0	.	98;51;30	E9PAX5;Q8N9W5-3;Q8N9W5	.;.;CS051_HUMAN	H	98;77;98	ENSP00000375600:P77H	ENSP00000301249:P98H	P	-	2	0	C19orf51	60369177	1.000000	0.71417	0.927000	0.36925	0.512000	0.34134	3.527000	0.53517	2.255000	0.74692	0.561000	0.74099	CCT		0.592	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		35	180	1	0	1.03484e-13	1	1.11885e-13	35	180				
RHOBTB1	9886	broad.mit.edu	37	10	62670660	62670660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62670660C>T	ENST00000337910.5	-	4	618	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H|RNU2-72P_ENST00000411175.1_RNA	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	94	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATATGCAAAGCGTCTGTCTTT	0.443																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(280-282)cGc>cAc		Rho-related BTB domain containing 1							131.0	106.0	114.0					10																	62670660		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62670660C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.281G>A	10.37:g.62670660C>T	ENSP00000338671:p.Arg94His					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H	p.R94H	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			4	618	-	Prostate(12;0.0112)		94			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.281G>A	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994195	0.93167	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.77229	-1.08;-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.87654	0.2530	10	0.72032	D	0.01	.	20.1082	0.97900	0.0:1.0:0.0:0.0	.	94	O94844	RHBT1_HUMAN	H	94	ENSP00000350595:R94H;ENSP00000338671:R94H	ENSP00000338671:R94H	R	-	2	0	RHOBTB1	62340666	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.964000	0.70379	2.764000	0.94973	0.555000	0.69702	CGC		0.443	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			35	182	0	0	0	1	0	35	182				
FGD2	221472	broad.mit.edu	37	6	36982780	36982780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36982780G>A	ENST00000274963.8	+	8	1166	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	332	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCTCCTTCCGCCGCAACGAC	0.632																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(994-996)cGc>cAc		FYVE, RhoGEF and PH domain containing 2							68.0	57.0	61.0					6																	36982780		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36982780G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.995G>A	6.37:g.36982780G>A	ENSP00000274963:p.Arg332His						p.R332H	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			8	1166	+			332			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.995G>A	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006673	0.93287	.	.	ENSG00000146192	ENST00000274963	T	0.78126	-1.15	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.43260	D	0.000593	D	0.84279	0.5437	M	0.63843	1.955	0.47037	D	0.999295	D	0.89917	1.0	D	0.91635	0.999	D	0.86284	0.1669	10	0.87932	D	0	0.4254	17.1483	0.86772	0.0:0.0:1.0:0.0	.	332	Q7Z6J4	FGD2_HUMAN	H	332	ENSP00000274963:R332H	ENSP00000274963:R332H	R	+	2	0	FGD2	37090758	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.847000	0.55895	2.367000	0.80283	0.561000	0.74099	CGC		0.632	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		47	212	0	0	0	1	0	47	212				
RET	5979	broad.mit.edu	37	10	43612162	43612162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43612162C>A	ENST00000355710.3	+	12	2499	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	RET_ENST00000340058.5_Missense_Mutation_p.A756D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A756V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCACGGTGGCCGTGAAGATG	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	1	Substitution - Missense(1)	p.A756V(1)	large_intestine(1)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2266-2268)gCc>gAc		ret proto-oncogene	Sunitinib(DB01268)						105.0	111.0	109.0					10																	43612162		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43612162C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2267C>A	10.37:g.43612162C>A	ENSP00000347942:p.Ala756Asp					RET_ENST00000340058.5_Missense_Mutation_p.A756D	p.A756D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			12	2499	+		Ovarian(717;0.0423)	756			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2267C>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153002	0.94645	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.95980	-3.87;-3.87	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99253	1.0888	10	0.87932	D	0	.	19.7216	0.96145	0.0:1.0:0.0:0.0	.	502;756;756	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	756	ENSP00000347942:A756D;ENSP00000344798:A756D	ENSP00000344798:A756D	A	+	2	0	RET	42932168	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCC		0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		31	797	1	0	2.61193e-14	1	2.83483e-14	31	797				
LPHN2	23266	broad.mit.edu	37	1	82416758	82416758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82416758G>A	ENST00000370728.1	+	10	2194	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N			O95490	LPHN2_HUMAN	latrophilin 2	517					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAAGGGCCCCGATCTTAGCAA	0.423																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1549-1551)Gat>Aat		latrophilin 2							119.0	114.0	116.0					1																	82416758		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416758G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1549G>A	1.37:g.82416758G>A	ENSP00000359763:p.Asp517Asn					LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N	p.D517N			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	10	2194	+			517					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1549G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.773127	0.90108	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.978;0.988	T	0.64257	-0.6450	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	517;517;517	O95490-3;O95490-4;O95490-2	.;.;.	N	455;517;517;517;517;517;517;517;517;517;517;517;517;517	ENSP00000359756:D455N;ENSP00000359763:D517N;ENSP00000359765:D517N;ENSP00000359762:D517N;ENSP00000359760:D517N;ENSP00000359758:D517N;ENSP00000353006:D517N;ENSP00000359750:D517N;ENSP00000359748:D517N;ENSP00000322270:D517N;ENSP00000359752:D517N;ENSP00000378344:D517N;ENSP00000271029:D517N;ENSP00000337306:D517N	ENSP00000271029:D517N	D	+	1	0	LPHN2	82189346	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	GAT		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		37	345	0	0	0	1	0	37	345				
VAV1	7409	broad.mit.edu	37	19	6848025	6848025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6848025G>T	ENST00000602142.1	+	23	2111	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.E655*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	677	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGGCCCCATGGAGCGGGCAGG	0.602																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1963-1965)Gag>Tag		vav 1 guanine nucleotide exchange factor							87.0	89.0	88.0					19																	6848025		2203	4300	6503	SO:0001587	stop_gained	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6848025G>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2029G>T	19.37:g.6848025G>T	ENSP00000472929:p.Glu677*					VAV1_ENST00000602142.1_Nonsense_Mutation_p.E677*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*	p.E655*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			22	2057	+			677			SH3 1.		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	c.1963G>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926758	0.92319	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	3.68	3.68	0.42216	.	0.065910	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.9492	0.58389	0.0:0.0:1.0:0.0	.	.	.	.	X	677;580	.	ENSP00000302269:E677X	E	+	1	0	VAV1	6799025	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	8.064000	0.89483	1.890000	0.54733	0.313000	0.20887	GAG		0.602	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			55	526	1	0	4.1673e-28	1	4.84001e-28	55	526				
FLNC	2318	broad.mit.edu	37	7	128496609	128496609	+	Missense_Mutation	SNP	C	C	T	rs200516164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496609C>T	ENST00000325888.8	+	44	7550	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2430	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCGTCCTTTGCCGTGCAGCTG	0.647																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7288-7290)gCc>gTc		filamin C, gamma		C	VAL/ALA,VAL/ALA	0,4218		0,0,2109	62.0	73.0	69.0		7190,7289	4.9	1.0	7		69	2,8406		0,2,4202	yes	missense,missense	FLNC	NM_001127487.1,NM_001458.4	64,64	0,2,6311	TT,TC,CC		0.0238,0.0,0.0158	possibly-damaging,possibly-damaging	2397/2693,2430/2726	128496609	2,12624	2109	4204	6313	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496609C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7289C>T	7.37:g.128496609C>T	ENSP00000327145:p.Ala2430Val					FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V|RP11-309L24.2_ENST00000469965.1_RNA	p.A2430V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			44	7550	+			2430			Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7289C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221215	0.39201	0.0	2.38E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84589	-1.87;-1.87	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.116802	0.56097	D	0.000026	D	0.87633	0.6226	L	0.59912	1.85	0.47905	D	0.999546	P;P	0.46020	0.55;0.871	B;P	0.54431	0.412;0.752	D	0.84706	0.0731	10	0.21540	T	0.41	.	14.983	0.71324	0.143:0.857:0.0:0.0	.	2397;2430	Q14315-2;Q14315	.;FLNC_HUMAN	V	2430;2397	ENSP00000327145:A2430V;ENSP00000344002:A2397V	ENSP00000327145:A2430V	A	+	2	0	FLNC	128283845	0.998000	0.40836	0.969000	0.41365	0.152000	0.21847	4.005000	0.57075	2.432000	0.82394	0.557000	0.71058	GCC		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			84	402	0	0	0	1	0	84	402				
PI4KA	5297	broad.mit.edu	37	22	21087302	21087302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21087302G>T	ENST00000572273.1	-	36	4301	c.4071C>A	c.(4069-4071)ttC>ttA	p.F1357L	PI4KA_ENST00000414196.3_Missense_Mutation_p.F167L|PI4KA_ENST00000255882.6_Missense_Mutation_p.F1415L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1357					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTTATCTGAGAACATGGCGG	0.527																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(4243-4245)ttC>ttA		phosphatidylinositol 4-kinase, catalytic, alpha							51.0	47.0	48.0					22																	21087302		2203	4297	6500	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21087302G>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4071C>A	22.37:g.21087302G>T	ENSP00000458238:p.Phe1357Leu					PI4KA_ENST00000414196.3_Missense_Mutation_p.F167L|PI4KA_ENST00000572273.1_Missense_Mutation_p.F1357L	p.F1415L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		36	4331	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1357					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.4245C>A		.	.	.	.	.	.	.	.	.	.	G	15.96	2.987345	0.53934	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.75938	-0.98	5.55	5.55	0.83447	.	0.163311	0.56097	D	0.000036	T	0.47284	0.1437	N	0.01219	-0.95	0.51482	D	0.999922	B	0.02656	0.0	B	0.04013	0.001	T	0.48768	-0.9006	10	0.37606	T	0.19	-32.5835	12.8034	0.57598	0.075:0.0:0.925:0.0	.	1357	P42356	PI4KA_HUMAN	L	1357;167	ENSP00000402981:F167L	ENSP00000255882:F1357L	F	-	3	2	PI4KA	19417302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.376000	0.44292	2.606000	0.88127	0.557000	0.71058	TTC		0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		46	264	1	0	2.76378e-25	1	3.16915e-25	46	264				
MME	4311	broad.mit.edu	37	3	154834705	154834705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154834705A>G	ENST00000460393.1	+	7	704	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	MME_ENST00000462745.1_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_Missense_Mutation_p.Y195C|MME_ENST00000360490.2_Missense_Mutation_p.Y195C|MME_ENST00000493237.1_Missense_Mutation_p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	195					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AATTCTAAATATGGGAAAAAA	0.294																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(583-585)tAt>tGt		membrane metallo-endopeptidase	Candoxatril(DB00616)						59.0	63.0	61.0					3																	154834705		2203	4296	6499	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834705A>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.584A>G	3.37:g.154834705A>G	ENSP00000418525:p.Tyr195Cys					MME_ENST00000493237.1_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_Missense_Mutation_p.Y195C|MME_ENST00000462745.1_Missense_Mutation_p.Y195C|MME_ENST00000360490.2_Missense_Mutation_p.Y195C	p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		7	704	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	195					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.584A>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.734859	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	6.17	3.52	0.40303	Peptidase M13 (1);	0.115285	0.64402	D	0.000010	D	0.86142	0.5862	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88017	0.2766	10	0.87932	D	0	-15.7668	12.7345	0.57216	0.7695:0.0:0.0:0.2305	.	195	P08473	NEP_HUMAN	C	195	ENSP00000420389:Y195C;ENSP00000418525:Y195C;ENSP00000420101:Y195C;ENSP00000419653:Y195C;ENSP00000417079:Y195C;ENSP00000353679:Y195C	ENSP00000353679:Y195C	Y	+	2	0	MME	156317399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.540000	0.60664	1.130000	0.42092	0.533000	0.62120	TAT		0.294	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		41	225	0	0	0	1	0	41	225				
SH3RF2	153769	broad.mit.edu	37	5	145393591	145393591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145393591G>A	ENST00000511217.1	+	4	1078	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	SH3RF2_ENST00000359120.4_Silent_p.E342E			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	342					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCATGGAGAAAGCAGACG	0.552																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1024-1026)gaG>gaA		SH3 domain containing ring finger 2							99.0	98.0	98.0					5																	145393591		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393591G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1026G>A	5.37:g.145393591G>A						SH3RF2_ENST00000359120.4_Silent_p.E342E	p.E342E			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1078	+			342					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1026G>A	CCDS4280.1																																																																																				0.552	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		100	487	0	0	0	1	0	100	487				
VPS13A	23230	broad.mit.edu	37	9	79985233	79985233	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79985233G>T	ENST00000360280.3	+	64	8988	c.8728G>T	c.(8728-8730)Gtt>Ttt	p.V2910F	VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2910					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						TAAGGCACTAGTTGGTGGAGC	0.393																																						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.(8728-8730)Gtt>Ttt		vacuolar protein sorting 13 homolog A (S. cerevisiae)							98.0	95.0	96.0					9																	79985233		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79985233G>T	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.8728G>T	9.37:g.79985233G>T	ENSP00000353422:p.Val2910Phe					VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F|VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F	p.V2910F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			64	8988	+			2910					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8728G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	9.673	1.147356	0.21288	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.54071	0.77;0.59;0.68;0.75	5.59	4.68	0.58851	.	0.057766	0.64402	D	0.000001	T	0.57272	0.2042	N	0.20530	0.585	0.80722	D	1	B;D;D;D	0.89917	0.189;1.0;0.999;1.0	B;D;D;D	0.97110	0.076;0.999;0.99;1.0	T	0.56402	-0.7985	9	.	.	.	.	14.8084	0.69974	0.0:0.2734:0.7266:0.0	.	2871;2910;2910;2910	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	2910;2871;2910;2910	ENSP00000365821:V2910F;ENSP00000365823:V2871F;ENSP00000353422:V2910F;ENSP00000349985:V2910F	.	V	+	1	0	VPS13A	79175053	1.000000	0.71417	0.932000	0.37286	0.994000	0.84299	3.027000	0.49697	1.329000	0.45376	0.467000	0.42956	GTT		0.393	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		61	241	1	0	2.165e-29	1	2.52906e-29	61	241				
MLXIP	22877	broad.mit.edu	37	12	122620057	122620057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620057C>A	ENST00000319080.7	+	11	2008	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	MLXIP_ENST00000535996.1_3'UTR|MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGGAGTTCCACAGCAGCAT	0.652																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1876-1878)Cac>Aac		MLX interacting protein							19.0	24.0	22.0					12																	122620057		2026	4188	6214	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122620057C>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1876C>A	12.37:g.122620057C>A	ENSP00000312834:p.His626Asn					MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N|MLXIP_ENST00000535996.1_3'UTR	p.H626N			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	11	2008	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	626						Missense_Mutation	SNP	ENST00000319080.7	37	c.1876C>A		.	.	.	.	.	.	.	.	.	.	C	17.21	3.331774	0.60853	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000366272	T;T;T	0.46451	2.51;1.85;0.87	5.16	5.16	0.70880	.	0.822880	0.11534	N	0.554380	T	0.30603	0.0770	.	.	.	0.80722	D	1	B	0.31730	0.337	B	0.23419	0.046	T	0.14559	-1.0468	9	0.12766	T	0.61	-13.6986	18.6435	0.91402	0.0:1.0:0.0:0.0	.	626	Q9HAP2	MLXIP_HUMAN	N	626;233;233;97	ENSP00000312834:H626N;ENSP00000440769:H233N;ENSP00000445891:H97N	ENSP00000312834:H626N	H	+	1	0	MLXIP	121186010	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.649000	0.61433	2.395000	0.81488	0.455000	0.32223	CAC		0.652	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		14	75	1	0	8.60227e-14	1	9.30909e-14	14	75				
TOP2B	7155	broad.mit.edu	37	3	25672321	25672321	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25672321A>G	ENST00000264331.4	-	11	1375	c.1376T>C	c.(1375-1377)aTt>aCt	p.I459T	TOP2B_ENST00000435706.2_Missense_Mutation_p.I454T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	459					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CAGTTTGGGAATACCTTTGAT	0.299																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1360-1362)aTt>aCt		topoisomerase (DNA) II beta 180kDa							128.0	115.0	119.0					3																	25672321		1842	4084	5926	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25672321A>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1376T>C	3.37:g.25672321A>G	ENSP00000264331:p.Ile459Thr					TOP2B_ENST00000264331.4_Missense_Mutation_p.I459T	p.I454T			Q02880	TOP2B_HUMAN			11	1562	-			459					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1361T>C		.	.	.	.	.	.	.	.	.	.	A	22.2	4.259482	0.80246	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48201	0.82;0.82	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	H	0.95402	3.665	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.85031	0.0917	10	0.87932	D	0	-9.7441	15.2768	0.73748	1.0:0.0:0.0:0.0	.	454	Q02880-2	.	T	454;459;454	ENSP00000396704:I454T;ENSP00000264331:I459T	ENSP00000264331:I459T	I	-	2	0	TOP2B	25647325	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.022000	0.59522	0.454000	0.30748	ATT		0.299	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				31	109	0	0	0	1	0	31	109				
NCOA5	57727	broad.mit.edu	37	20	44691163	44691163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44691163G>T	ENST00000290231.6	-	8	1680	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	506	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAAAGCCCTTGGGAAGGAGCC	0.552																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1516-1518)Caa>Aaa		nuclear receptor coactivator 5							49.0	51.0	51.0					20																	44691163		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691163G>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1516C>A	20.37:g.44691163G>T	ENSP00000290231:p.Gln506Lys						p.Q506K	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1680	-		Myeloproliferative disorder(115;0.0122)	506			Transcription activation.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.1516C>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765540	0.31228	.	.	ENSG00000124160	ENST00000290231	T	0.50548	0.74	5.54	4.59	0.56863	.	0.457422	0.24983	N	0.034056	T	0.42653	0.1212	L	0.34521	1.04	0.45914	D	0.998751	D	0.54964	0.969	P	0.49361	0.608	T	0.23048	-1.0199	10	0.07325	T	0.83	-0.4782	15.7475	0.77958	0.0:0.1365:0.8635:0.0	.	506	Q9HCD5	NCOA5_HUMAN	K	506	ENSP00000290231:Q506K	ENSP00000290231:Q506K	Q	-	1	0	NCOA5	44124570	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.646000	0.74348	1.567000	0.49668	-0.165000	0.13383	CAA		0.552	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		11	339	1	0	4.68919e-08	1	4.88816e-08	11	339				
NEK5	341676	broad.mit.edu	37	13	52657437	52657437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52657437G>A	ENST00000355568.4	-	17	1670	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	511					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGATGGACAGGCAGGTTACTC	0.433																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1531-1533)Cct>Tct		NIMA-related kinase 5							227.0	187.0	200.0					13																	52657437		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52657437G>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1531C>T	13.37:g.52657437G>A	ENSP00000347767:p.Pro511Ser						p.P511S	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	17	1670	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	511					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1531C>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347691	0.11126	.	.	ENSG00000197168	ENST00000355568	T	0.69806	-0.43	5.42	2.24	0.28232	.	0.415847	0.19497	N	0.112832	T	0.53142	0.1778	L	0.51422	1.61	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.33777	-0.9855	10	0.10902	T	0.67	.	8.3384	0.32228	0.2948:0.0:0.7052:0.0	.	511	Q6P3R8	NEK5_HUMAN	S	511	ENSP00000347767:P511S	ENSP00000347767:P511S	P	-	1	0	NEK5	51555438	0.160000	0.22878	0.027000	0.17364	0.124000	0.20399	0.615000	0.24329	0.644000	0.30656	0.455000	0.32223	CCT		0.433	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		58	313	0	0	0	1	0	58	313				
RSPH4A	345895	broad.mit.edu	37	6	116949186	116949186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116949186G>A	ENST00000229554.5	+	3	1453	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	439					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAACCAGGAAGACCATGGGTG	0.398									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1315-1317)aGa>aAa		radial spoke head 4 homolog A (Chlamydomonas)							79.0	77.0	78.0					6																	116949186		2203	4300	6503	SO:0001583	missense	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949186G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1316G>A	6.37:g.116949186G>A	ENSP00000229554:p.Arg439Lys					RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K|RSPH4A_ENST00000368580.4_Intron	p.R439K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1453	+			439					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1316G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575649	0.28092	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.15952	2.38;2.38	5.74	3.85	0.44370	.	0.839247	0.11466	N	0.561204	T	0.02807	0.0084	N	0.12746	0.255	0.22511	N	0.999032	B;B	0.19445	0.02;0.036	B;B	0.25614	0.008;0.062	T	0.34004	-0.9846	10	0.05721	T	0.95	-8.6964	13.3698	0.60707	0.0:0.4343:0.5657:0.0	.	439;439	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	K	439;439;234	ENSP00000357570:R439K;ENSP00000229554:R439K	ENSP00000229554:R439K	R	+	2	0	RSPH4A	117055879	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.347000	0.44036	1.415000	0.47037	-0.165000	0.13383	AGA		0.398	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		65	328	0	0	0	1	0	65	328				
MAP4K3	8491	broad.mit.edu	37	2	39583458	39583458	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39583458C>A	ENST00000263881.3	-	3	501	c.177G>T	c.(175-177)caG>caT	p.Q59H	MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H|MAP4K3_ENST00000437545.1_5'UTR|MAP4K3_ENST00000484274.1_Missense_Mutation_p.Q59H	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAATTTCTTGCTGCACAACTG	0.303																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(175-177)caG>caT		mitogen-activated protein kinase kinase kinase kinase 3							170.0	181.0	177.0					2																	39583458		2203	4298	6501	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39583458C>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.177G>T	2.37:g.39583458C>A	ENSP00000263881:p.Gln59His					MAP4K3_ENST00000437545.1_5'UTR|MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H	p.Q59H	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			3	501	-		all_hematologic(82;0.211)	59			Protein kinase.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.177G>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398983	0.83120	.	.	ENSG00000011566	ENST00000263881;ENST00000341681	T;T	0.66460	-0.21;-0.21	5.48	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	L	0.52759	1.655	0.80722	D	1	P;P	0.49307	0.922;0.707	P;P	0.54924	0.764;0.655	T	0.68792	-0.5315	9	.	.	.	.	12.6098	0.56544	0.0:0.9184:0.0:0.0816	.	59;59	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	H	59	ENSP00000263881:Q59H;ENSP00000345434:Q59H	.	Q	-	3	2	MAP4K3	39436962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.236000	0.58675	2.563000	0.86464	0.561000	0.74099	CAG		0.303	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		90	496	1	0	3.05217e-42	1	3.71447e-42	90	496				
FLRT3	23767	broad.mit.edu	37	20	14307947	14307947	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307947T>C	ENST00000378053.3	-	2	462	c.206A>G	c.(205-207)cAa>cGa	p.Q69R	FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	69			Q -> K (in HH21; rare variant associated with susceptibility to disease; the patient has a second mutation in the HH- associated gene FGFR1). {ECO:0000269|PubMed:23643382}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATTATTTATTTGGTTGTTCTG	0.393																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(205-207)cAa>cGa		fibronectin leucine rich transmembrane protein 3							121.0	129.0	126.0					20																	14307947		2202	4300	6502	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307947T>C	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.206A>G	20.37:g.14307947T>C	ENSP00000367292:p.Gln69Arg					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R|MACROD2_ENST00000217246.4_Intron	p.Q69R	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	462	-		Colorectal(1;0.0464)	69					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.206A>G	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562035	0.27915	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.39787	1.06;1.06	6.06	4.94	0.65067	.	0.143023	0.49916	D	0.000123	T	0.28267	0.0698	N	0.16833	0.445	0.44834	D	0.997845	B	0.14012	0.009	B	0.15052	0.012	T	0.03354	-1.1045	10	0.30078	T	0.28	-10.4966	13.4394	0.61104	0.0:0.0:0.1308:0.8692	.	69	Q9NZU0	FLRT3_HUMAN	R	69	ENSP00000367292:Q69R;ENSP00000339912:Q69R	ENSP00000339912:Q69R	Q	-	2	0	FLRT3	14255947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.758000	0.68776	1.077000	0.40990	0.533000	0.62120	CAA		0.393	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		131	599	0	0	0	1	0	131	599				
PCDHB7	56129	broad.mit.edu	37	5	140554677	140554677	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554677C>A	ENST00000231137.3	+	1	2435	c.2261C>A	c.(2260-2262)aCt>aAt	p.T754N	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGCCTGACTGGAGGCTCC	0.567																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2260-2262)aCt>aAt									90.0	136.0	120.0					5																	140554677		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554677C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2261C>A	5.37:g.140554677C>A	ENSP00000231137:p.Thr754Asn						p.T754N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2435	+			754					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2261C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230899	0.39399	.	.	ENSG00000113212	ENST00000231137	T	0.16743	2.32	4.33	-6.3	0.02007	.	.	.	.	.	T	0.22551	0.0544	M	0.92317	3.295	0.09310	N	1	B	0.29590	0.25	B	0.31337	0.128	T	0.31251	-0.9950	9	0.66056	D	0.02	.	2.1551	0.03810	0.1966:0.4673:0.1354:0.2008	.	754	Q9Y5E2	PCDB7_HUMAN	N	754	ENSP00000231137:T754N	ENSP00000231137:T754N	T	+	2	0	PCDHB7	140534861	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	0.040000	0.13905	-1.844000	0.01178	0.455000	0.32223	ACT		0.567	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		22	1201	1	0	3.70931e-20	1	4.15183e-20	22	1201				
GMPPA	29926	broad.mit.edu	37	2	220366724	220366724	+	Missense_Mutation	SNP	C	C	T	rs565848757	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220366724C>T	ENST00000358215.3	+	5	763	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C|GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	132					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)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCCACCGACGCCAGCGTCA	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18263	0.0		0.0	False		,,,				2504	0.002					ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(394-396)Cgc>Tgc		GDP-mannose pyrophosphorylase A							174.0	158.0	164.0					2																	220366724		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220366724C>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.394C>T	2.37:g.220366724C>T	ENSP00000350949:p.Arg132Cys					GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C	p.R132C	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	5	763	+		Renal(207;0.0183)	132					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.394C>T	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197552	0.38806	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	D;D;D;D;T;T;D	0.94330	-3.4;-3.4;-3.4;-3.4;-0.75;-0.75;-3.4	4.89	0.823	0.18812	Nucleotidyl transferase (1);	0.667620	0.15013	N	0.285472	D	0.86847	0.6031	L	0.33339	1.005	0.39447	D	0.967333	B;B	0.13145	0.003;0.007	B;B	0.15484	0.003;0.013	T	0.77803	-0.2451	10	0.45353	T	0.12	-18.2	6.5315	0.22330	0.0:0.651:0.1293:0.2197	.	132;132	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	C	132;132;132;132;132;97;132;62	ENSP00000315925:R132C;ENSP00000363027:R132C;ENSP00000350949:R132C;ENSP00000363016:R132C;ENSP00000392465:R132C;ENSP00000411060:R97C;ENSP00000340760:R132C	ENSP00000315925:R132C	R	+	1	0	GMPPA	220074968	0.985000	0.35326	0.982000	0.44146	0.641000	0.38312	1.580000	0.36547	0.143000	0.18926	-0.291000	0.09656	CGC		0.592	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		107	1144	0	0	0	1	0	107	1144				
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000397854.3_Splice_Site_p.F242F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.e8+1		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)	G	,	1,4405	2.1+/-5.4	0,1,2202	120.0	94.0	103.0		897,897	-7.0	0.4	21	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ITGB2	NM_000211.3,NM_001127491.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	299/770,299/770	46320235	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320235G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1C>T	21.37:g.46320235G>A						ITGB2_ENST00000397854.3_Splice_Site_p.F242_splice|ITGB2_ENST00000397852.1_Splice_Site_p.F299_splice|ITGB2_ENST00000302347.5_Splice_Site_p.F299_splice|ITGB2_ENST00000397857.1_Splice_Site_p.F299_splice|ITGB2_ENST00000355153.4_Splice_Site_p.F299_splice	p.F299_splice			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1349	-			299			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	37	c.897_splice	CCDS13716.1																																																																																				0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Silent	31	276	0	0	0	1	0	31	276				
GPR98	84059	broad.mit.edu	37	5	90020790	90020790	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90020790T>G	ENST00000405460.2	+	46	9986	c.9890T>G	c.(9889-9891)aTt>aGt	p.I3297S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3297					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCAGGGGATTTTTATTCCA	0.284																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(9889-9891)aTt>aGt		G protein-coupled receptor 98							53.0	47.0	49.0					5																	90020790		1785	4056	5841	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90020790T>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9890T>G	5.37:g.90020790T>G	ENSP00000384582:p.Ile3297Ser						p.I3297S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	46	9986	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3297					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.9890T>G	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.370527|2.370527	0.42003|0.42003	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.26518	.|1.73	5.51|5.51	4.36|4.36	0.52297|0.52297	.|.	.|0.449501	.|0.25154	.|N	.|0.032734	T|T	0.24851|0.24851	0.0603|0.0603	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28128	.|0.049;0.201	.|B;B	.|0.18871	.|0.016;0.023	T|T	0.03818|0.03818	-1.1001|-1.1001	5|10	.|0.66056	.|D	.|0.02	.|.	10.582|10.582	0.45261|0.45261	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	.|3297;3297	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	V|S	863|3297	.|ENSP00000384582:I3297S	.|ENSP00000296619:I3297S	F|I	+|+	1|2	0|0	GPR98|GPR98	90056546|90056546	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	2.691000|2.691000	0.47010|0.47010	0.940000|0.940000	0.37473|0.37473	0.455000|0.455000	0.32223|0.32223	TTT|ATT		0.284	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		31	179	0	0	0	1	0	31	179				
DYNC2H1	79659	broad.mit.edu	37	11	102980404	102980404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102980404G>A	ENST00000375735.2	+	1	245	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	34	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCACTGTTGTGCAACTGTCTT	0.517																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(100-102)tGc>tAc		dynein, cytoplasmic 2, heavy chain 1							85.0	83.0	84.0					11																	102980404		1971	4168	6139	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102980404G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.101G>A	11.37:g.102980404G>A	ENSP00000364887:p.Cys34Tyr					DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y	p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	1	245	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	34			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.101G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206026	0.01568	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.28454	1.75;1.61;1.75	5.63	-4.3	0.03710	.	0.812540	0.09108	U	0.847418	T	0.07683	0.0193	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29458	-1.0011	10	0.24483	T	0.36	.	2.6491	0.04993	0.2384:0.257:0.3793:0.1253	.	34;34;34	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Y	34	ENSP00000364887:C34Y;ENSP00000334021:C34Y;ENSP00000381167:C34Y	ENSP00000334021:C34Y	C	+	2	0	DYNC2H1	102485614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.466000	0.06672	-0.402000	0.07633	-1.322000	0.01289	TGC		0.517	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		29	150	0	0	0	1	0	29	150				
TAS2R41	259287	broad.mit.edu	37	7	143175206	143175206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175206G>A	ENST00000408916.1	+	1	241	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	81					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGGGGTCTCGGCCGACAGTT	0.542																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(241-243)Ggc>Agc		taste receptor, type 2, member 41							105.0	105.0	105.0					7																	143175206		2003	4165	6168	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175206G>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.241G>A	7.37:g.143175206G>A	ENSP00000386201:p.Gly81Ser					EPHA1-AS1_ENST00000429289.1_RNA	p.G81S	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	241	+	Melanoma(164;0.15)		81					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.241G>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103716	0.06967	.	.	ENSG00000221855	ENST00000408916	T	0.39406	1.08	5.76	-0.794	0.10918	.	1.412690	0.04793	N	0.432118	T	0.22513	0.0543	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16958	-1.0385	10	0.08381	T	0.77	.	6.6835	0.23132	0.1486:0.0:0.5337:0.3176	.	81	P59536	T2R41_HUMAN	S	81	ENSP00000386201:G81S	ENSP00000386201:G81S	G	+	1	0	TAS2R41	142885328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.585000	0.05794	-0.138000	0.11434	-2.610000	0.00160	GGC		0.542	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			69	356	0	0	0	1	0	69	356				
GRAP2	9402	broad.mit.edu	37	22	40367030	40367030	+	Missense_Mutation	SNP	G	G	A	rs201778964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367030G>A	ENST00000344138.4	+	8	1198	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	312	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGACCGGCCGCCTGCACAAC	0.597																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(934-936)cGc>cAc		GRB2-related adaptor protein 2							81.0	70.0	74.0					22																	40367030		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40367030G>A	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.935G>A	22.37:g.40367030G>A	ENSP00000339186:p.Arg312His					GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H	p.R312H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			8	1198	+			312			SH3 2.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.935G>A	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975252	0.74360	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.55052	0.54;1.31;0.54;0.54;0.54;0.54	5.27	1.78	0.24846	Src homology-3 domain (5);	0.291746	0.36815	N	0.002393	T	0.51958	0.1705	L	0.39566	1.225	0.18873	N	0.999986	P;P;P;D;P	0.65815	0.884;0.956;0.718;0.995;0.914	B;P;B;P;P	0.58577	0.403;0.636;0.281;0.841;0.515	T	0.38478	-0.9659	10	0.72032	D	0.01	-6.3986	5.0818	0.14661	0.072:0.1274:0.538:0.2626	.	199;312;246;286;312	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	H	312;260;286;246;240;199;312	ENSP00000339186:R312H;ENSP00000446350:R260H;ENSP00000444734:R246H;ENSP00000442195:R240H;ENSP00000382040:R199H;ENSP00000385607:R312H	ENSP00000339186:R312H	R	+	2	0	GRAP2	38696976	0.755000	0.28372	0.932000	0.37286	0.984000	0.73092	3.216000	0.51176	0.569000	0.29329	0.557000	0.71058	CGC		0.597	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		66	302	0	0	0	1	0	66	302				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	160	0	0	0	1	0	5	160				
VTN	7448	broad.mit.edu	37	17	26695591	26695591	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695591C>A	ENST00000226218.4	-	6	1548	c.930G>T	c.(928-930)cgG>cgT	p.R310R	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	310					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CCCAGCTGTCCCGCTGCATCA	0.557																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(928-930)cgG>cgT		vitronectin	Urokinase(DB00013)						92.0	85.0	87.0					17																	26695591		2203	4300	6503	SO:0001819	synonymous_variant	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26695591C>A	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.930G>T	17.37:g.26695591C>A						SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	p.R310R	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	6	1548	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		310					B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	37	c.930G>T	CCDS11229.1																																																																																				0.557	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		90	343	1	0	5.42582e-32	1	6.39997e-32	90	343				
EPHB2	2048	broad.mit.edu	37	1	23191452	23191452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23191452C>T	ENST00000400191.3	+	5	1068	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000544305.1_Silent_p.S350S|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000374627.1_Silent_p.S344S|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	350	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCGCGACTCCGGAGGCCGAG	0.657																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1048-1050)tcC>tcT		EPH receptor B2							65.0	72.0	70.0					1																	23191452		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23191452C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1050C>T	1.37:g.23191452C>T						EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S344S|EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000544305.1_Silent_p.S350S	p.S350S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	5	1068	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	350			Fibronectin type-III 1.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.1050C>T																																																																																					0.657	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		66	699	0	0	0	1	0	66	699				
NLRC5	84166	broad.mit.edu	37	16	57077468	57077468	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57077468T>C	ENST00000262510.6	+	20	3380	c.3155T>C	c.(3154-3156)tTg>tCg	p.L1052S	NLRC5_ENST00000436936.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1052					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGTTGGGTTTGGTTCGGTGC	0.602																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3154-3156)tTg>tCg		NLR family, CARD domain containing 5							437.0	319.0	359.0					16																	57077468		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57077468T>C	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3155T>C	16.37:g.57077468T>C	ENSP00000262510:p.Leu1052Ser					NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S|NLRC5_ENST00000262510.6_Missense_Mutation_p.L1052S|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S	p.L1052S			Q86WI3	NLRC5_HUMAN			20	3380	+		all_neural(199;0.225)	1052					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3155T>C	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867533	0.51588	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.29	4.29	0.51040	.	0.000000	0.27469	N	0.019238	D	0.83087	0.5178	M	0.83118	2.625	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74595	-0.3613	10	0.87932	D	0	.	10.0221	0.42048	0.0:0.0:0.0:1.0	.	1052;1052;1052;1052	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	S	1052;1052;1052;526;1052;559;351	ENSP00000262510:L1052S;ENSP00000308886:L1052S;ENSP00000389739:L1052S;ENSP00000441727:L1052S;ENSP00000441597:L559S;ENSP00000440153:L351S	ENSP00000262510:L1052S	L	+	2	0	NLRC5	55634969	0.106000	0.21978	0.093000	0.20910	0.004000	0.04260	1.686000	0.37669	1.941000	0.56285	0.460000	0.39030	TTG		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		278	1174	0	0	0	1	0	278	1174				
PITPNM2	57605	broad.mit.edu	37	12	123494407	123494407	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123494407G>A	ENST00000542749.1	-	4	696	c.633C>T	c.(631-633)atC>atT	p.I211I	PITPNM2_ENST00000320201.4_Silent_p.I211I|PITPNM2_ENST00000451868.2_5'UTR|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000546049.1_Silent_p.I211I|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Silent_p.I211I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	211					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGTGTCGTGGATGAACCTCT	0.582																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(631-633)atC>atT		phosphatidylinositol transfer protein, membrane-associated 2							178.0	151.0	160.0					12																	123494407		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494407G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.633C>T	12.37:g.123494407G>A						PITPNM2_ENST00000542749.1_Silent_p.I211I|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Silent_p.I211I|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.I211I	p.I211I			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	838	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		211					Q9P271	Silent	SNP	ENST00000542749.1	37	c.633C>T	CCDS9242.1																																																																																				0.582	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		113	570	0	0	0	1	0	113	570				
ZNF596	169270	broad.mit.edu	37	8	195764	195764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:195764C>T	ENST00000398612.1	+	6	1300	c.917C>T	c.(916-918)cCa>cTa	p.P306L	ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L|ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GGAGATAAACCATATGGATGT	0.393																																						ENST00000398612.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14						c.(916-918)cCa>cTa		zinc finger protein 596							55.0	52.0	53.0					8																	195764		2203	4300	6503	SO:0001583	missense	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:195764C>T	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.917C>T	8.37:g.195764C>T	ENSP00000381613:p.Pro306Leu					ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L|ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L	p.P306L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	6	1300	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	306					B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	c.917C>T	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380151	0.61845	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.27557	1.66;2.3;1.66	2.62	2.62	0.31277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49372	0.1553	M	0.62209	1.925	0.50632	D	0.999889	D	0.89917	1.0	D	0.97110	1.0	T	0.52320	-0.8591	9	0.62326	D	0.03	.	11.4348	0.50062	0.0:1.0:0.0:0.0	.	306	Q8TC21	ZN596_HUMAN	L	306;236;306	ENSP00000310033:P306L;ENSP00000318719:P236L;ENSP00000381613:P306L	ENSP00000310033:P306L	P	+	2	0	ZNF596	185764	1.000000	0.71417	0.956000	0.39512	0.730000	0.41778	5.821000	0.69257	1.792000	0.52537	0.585000	0.79938	CCA		0.393	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		41	162	0	0	0	1	0	41	162				
ZFHX3	463	broad.mit.edu	37	16	72992964	72992964	+	Missense_Mutation	SNP	C	C	T	rs561634666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72992964C>T	ENST00000268489.5	-	2	1753	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	361					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAACTGTGTCCGGGGCCTATG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.0		0.0	False		,,,				2504	0.001					ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(1081-1083)Gga>Aga		zinc finger homeobox 3							55.0	68.0	64.0					16																	72992964		2195	4299	6494	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992964C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1081G>A	16.37:g.72992964C>T	ENSP00000268489:p.Gly361Arg					ZFHX3_ENST00000397992.5_Intron	p.G361R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1753	-		Ovarian(137;0.13)	361					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1081G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316310	0.40996	.	.	ENSG00000140836	ENST00000268489	T	0.74632	-0.86	4.92	4.92	0.64577	.	0.000000	0.47455	D	0.000224	T	0.82001	0.4942	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.82141	-0.0604	10	0.46703	T	0.11	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	361	Q15911	ZFHX3_HUMAN	R	361	ENSP00000268489:G361R	ENSP00000268489:G361R	G	-	1	0	ZFHX3	71550465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.448000	0.82819	0.591000	0.81541	GGA		0.517	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		171	502	0	0	0	1	0	171	502				
WNK2	65268	broad.mit.edu	37	9	95947834	95947834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95947834C>T	ENST00000297954.4	+	1	623	c.623C>T	c.(622-624)aCg>aTg	p.T208M	WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCTTCAAGACGGTCTACAAG	0.667																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(622-624)aCg>aTg		WNK lysine deficient protein kinase 2							38.0	38.0	38.0					9																	95947834		2202	4299	6501	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:95947834C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.623C>T	9.37:g.95947834C>T	ENSP00000297954:p.Thr208Met					WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M	p.T208M			Q9Y3S1	WNK2_HUMAN			1	623	+			208			Protein kinase.		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.623C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.932178|3.932178	0.73442|0.73442	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27	4.34|4.34	4.34|4.34	0.51931|0.51931	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.77287|0.77287	0.4108|0.4108	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.80564|0.80564	-0.1326|-0.1326	5|10	.|0.87932	.|D	.|0	.|.	16.8414|16.8414	0.85970|0.85970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|208;208;208;208	.|Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	W|M	204|208;208;208;194	.|ENSP00000412465:T208M;ENSP00000297954:T208M;ENSP00000378860:T208M;ENSP00000378858:T194M	.|ENSP00000297954:T208M	R|T	+|+	1|2	2|0	WNK2|WNK2	94987655|94987655	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	5.818000|5.818000	0.69236|0.69236	2.132000|2.132000	0.65825|0.65825	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.667	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		23	118	0	0	0	1	0	23	118				
MYO9A	4649	broad.mit.edu	37	15	72208782	72208782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72208782C>T	ENST00000356056.5	-	19	3086	c.2614G>A	c.(2614-2616)Gat>Aat	p.D872N	MYO9A_ENST00000564571.1_Missense_Mutation_p.D872N|MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	872	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAATGCGATCTTGTAGTGTC	0.338																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2614-2616)Gat>Aat		myosin IXA							97.0	101.0	100.0					15																	72208782		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72208782C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2614G>A	15.37:g.72208782C>T	ENSP00000348349:p.Asp872Asn					MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000564571.1_Missense_Mutation_p.D872N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N|MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N	p.D872N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			19	3086	-			872					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2614G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408315	0.96051	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71698	-0.59;-0.59;-0.59	5.24	5.24	0.73138	Myosin head, motor domain (1);	.	.	.	.	T	0.77157	0.4089	L	0.35414	1.06	0.80722	D	1	D;D;P	0.89917	1.0;0.957;0.943	D;P;P	0.91635	0.999;0.781;0.896	T	0.73736	-0.3889	9	0.30078	T	0.28	.	17.7426	0.88411	0.0:1.0:0.0:0.0	.	853;853;872	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	N	872;872;853;853	ENSP00000348349:D872N;ENSP00000399162:D872N;ENSP00000398250:D853N	ENSP00000261864:D853N	D	-	1	0	MYO9A	69995836	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.240000	0.78192	2.709000	0.92574	0.655000	0.94253	GAT		0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		67	237	0	0	0	1	0	67	237				
FOXL2NB	401089	broad.mit.edu	37	3	138669185	138669185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669185G>A	ENST00000383165.3	+	3	430	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		100										large_intestine(1)|lung(3)	4						GGGAAGCGTCGCGGCTGCTCT	0.682																																						ENST00000383165.3																			0				large_intestine(1)|lung(3)	4						c.(298-300)cGc>cAc		chromosome 3 open reading frame 72							12.0	17.0	15.0					3																	138669185		1664	3841	5505	SO:0001583	missense	401089							g.chr3:138669185G>A																												ENST00000383165.3:c.299G>A	3.37:g.138669185G>A	ENSP00000372651:p.Arg100His						p.R100H	NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN			3	430	+			100					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.299G>A	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	G	6.161	0.397971	0.11696	.	.	ENSG00000206262	ENST00000383165	.	.	.	1.79	-1.45	0.08828	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.16867	-1.0388	8	0.54805	T	0.06	.	4.1627	0.10291	0.1688:0.3982:0.433:0.0	.	100	Q6ZUU3	CC072_HUMAN	H	100	.	ENSP00000372651:R100H	R	+	2	0	C3orf72	140151875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.418000	0.07080	-0.475000	0.06852	0.555000	0.69702	CGC		0.682	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			49	190	0	0	0	1	0	49	190				
DICER1	23405	broad.mit.edu	37	14	95596505	95596505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95596505C>T	ENST00000526495.1	-	7	754	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	DICER1_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000527414.1_Missense_Mutation_p.A155T|DICER1_ENST00000393063.1_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_Missense_Mutation_p.A155T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	155	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATTCAAGGCGACATAGCAA	0.353			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(463-465)Gcc>Acc		dicer 1, ribonuclease type III							87.0	73.0	77.0					14																	95596505		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95596505C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.463G>A	14.37:g.95596505C>T	ENSP00000437256:p.Ala155Thr					DICER1_ENST00000393063.1_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_Missense_Mutation_p.A155T|DICER1_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000527414.1_Missense_Mutation_p.A155T	p.A155T			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	7	754	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	155			Helicase ATP-binding.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.463G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395293	0.62066	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.84	5.84	0.93424	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.142483	0.64402	D	0.000005	T	0.11879	0.0289	N	0.17082	0.46	0.41634	D	0.98903	P	0.37663	0.604	B	0.32980	0.156	T	0.05767	-1.0865	10	0.87932	D	0	-14.1645	14.9169	0.70805	0.1431:0.8569:0.0:0.0	.	155	Q9UPY3	DICER_HUMAN	T	155	ENSP00000343745:A155T;ENSP00000437256:A155T;ENSP00000376783:A155T;ENSP00000435681:A155T;ENSP00000444719:A155T	ENSP00000343745:A155T	A	-	1	0	DICER1	94666258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.910000	0.56371	2.753000	0.94483	0.650000	0.86243	GCC		0.353	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			15	136	0	0	0	1	0	15	136				
NID1	4811	broad.mit.edu	37	1	236157147	236157147	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157147G>A	ENST00000264187.6	-	13	2635	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	NID1_ENST00000366595.3_Silent_p.H718H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	851	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GTTCTCGCTCGTGCTGGCACC	0.627																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2551-2553)caC>caT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						28.0	29.0	29.0					1																	236157147		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236157147G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2553C>T	1.37:g.236157147G>A						NID1_ENST00000366595.3_Silent_p.H718H	p.H851H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2635	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	851			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.2553C>T	CCDS1608.1																																																																																				0.627	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		13	192	0	0	0	1	0	13	192				
NSD1	64324	broad.mit.edu	37	5	176638654	176638654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176638654C>A	ENST00000439151.2	+	5	3299	c.3254C>A	c.(3253-3255)cCt>cAt	p.P1085H	NSD1_ENST00000354179.4_Missense_Mutation_p.P816H|NSD1_ENST00000361032.4_Missense_Mutation_p.P982H|NSD1_ENST00000347982.4_Missense_Mutation_p.P816H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1085					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGAAGATCCTAGTAAAGAG	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3253-3255)cCt>cAt		nuclear receptor binding SET domain protein 1							117.0	127.0	124.0					5																	176638654		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638654C>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3254C>A	5.37:g.176638654C>A	ENSP00000395929:p.Pro1085His	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.P816H|NSD1_ENST00000361032.4_Missense_Mutation_p.P982H|NSD1_ENST00000347982.4_Missense_Mutation_p.P816H	p.P1085H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3299	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1085					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3254C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913458	0.17907	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.04;-3.04;-3.04;-3.15	4.35	1.55	0.23275	.	0.609322	0.14615	N	0.308762	D	0.84275	0.5436	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.69198	-0.5208	9	.	.	.	.	4.1341	0.10162	0.1629:0.5913:0.1574:0.0885	.	816;982;1085	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	816;1085;816;982	ENSP00000346111:P816H;ENSP00000395929:P1085H;ENSP00000343209:P816H;ENSP00000354310:P982H	.	P	+	2	0	NSD1	176571260	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	0.727000	0.25999	0.205000	0.20568	-0.257000	0.10917	CCT		0.453	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		144	385	1	0	3.11569e-49	1	3.85304e-49	144	385				
PCED1B	91523	broad.mit.edu	37	12	47471719	47471719	+	5'Flank	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47471719T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.E356G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E356G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E356G|AMIGO2_ENST00000266581.4_Missense_Mutation_p.E356G			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TCCAGCATCCTCAAAACGAGG	0.418																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1066-1068)gAg>gGg		adhesion molecule with Ig-like domain 2							128.0	129.0	129.0					12																	47471719		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471719T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471719T>C	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.E356G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E356G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E356G	p.E356G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1533	-	Renal(347;0.138)|Lung SC(27;0.192)		356			Ig-like C2-type.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1067A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209101	0.58343	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.02	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	L	0.46670	1.46	0.53005	D	0.99996	P	0.34757	0.467	B	0.39119	0.291	T	0.04509	-1.0946	10	0.34782	T	0.22	-20.9045	9.2112	0.37320	0.0:0.0829:0.0:0.9171	.	356	Q86SJ2	AMGO2_HUMAN	G	356	ENSP00000266581:E356G;ENSP00000449034:E356G;ENSP00000406020:E356G;ENSP00000320848:E356G	ENSP00000266581:E356G	E	-	2	0	AMIGO2	45757986	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.776000	0.68924	2.183000	0.69458	0.454000	0.30748	GAG		0.418	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		59	624	0	0	0	1	0	59	624				
ATR	545	broad.mit.edu	37	3	142269047	142269047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142269047C>A	ENST00000350721.4	-	14	3024	c.2903G>T	c.(2902-2904)aGa>aTa	p.R968I	ATR_ENST00000383101.3_Missense_Mutation_p.R904I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	968					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCCATTTCTCTCTGGTGAGC	0.403								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(2902-2904)aGa>aTa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							151.0	139.0	143.0					3																	142269047		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142269047C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2903G>T	3.37:g.142269047C>A	ENSP00000343741:p.Arg968Ile					ATR_ENST00000383101.3_Missense_Mutation_p.R904I	p.R968I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			14	3024	-			968					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.2903G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571103	0.65765	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.70282	-0.47;-0.47	5.47	4.41	0.53225	Armadillo-like helical (1);Armadillo-type fold (1);	0.052909	0.85682	D	0.000000	T	0.53302	0.1788	N	0.24115	0.695	0.80722	D	1	P	0.39216	0.664	B	0.34242	0.178	T	0.53027	-0.8496	10	0.17832	T	0.49	-18.6483	15.1389	0.72595	0.0:0.9203:0.0:0.0797	.	968	Q13535	ATR_HUMAN	I	968;904	ENSP00000343741:R968I;ENSP00000372581:R904I	ENSP00000343741:R968I	R	-	2	0	ATR	143751737	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.959000	0.70339	2.561000	0.86390	0.591000	0.81541	AGA		0.403	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		72	373	1	0	3.78398e-24	1	4.31794e-24	72	373				
MGAT4B	11282	broad.mit.edu	37	5	179227252	179227252	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179227252T>C	ENST00000292591.7	-	7	1077	c.727A>G	c.(727-729)Acc>Gcc	p.T243A	MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.T258A	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	243					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTTTGGTCCTCCACCTG	0.627																																					GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(772-774)Acc>Gcc		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B							101.0	80.0	87.0					5																	179227252		2203	4300	6503	SO:0001583	missense	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179227252T>C	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.727A>G	5.37:g.179227252T>C	ENSP00000292591:p.Thr243Ala					MGAT4B_ENST00000292591.7_Missense_Mutation_p.T243A	p.T258A	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1658	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	243					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	c.772A>G	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657724|4.657724	0.88154|0.88154	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000518980;ENST00000520875;ENST00000518867|ENST00000337755;ENST00000292591;ENST00000523108	.|T;T;T	.|0.44482	.|0.92;0.92;0.92	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69922|0.69922	0.3165|0.3165	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D;B;P	.|0.76494	.|0.997;0.999;0.087;0.928	.|D;D;B;P	.|0.83275	.|0.994;0.996;0.117;0.554	T|T	0.75972|0.75972	-0.3129|-0.3129	5|10	.|0.49607	.|T	.|0.09	-26.3918|-26.3918	14.5904|14.5904	0.68359|0.68359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|243;258;98;243	.|Q9UQ53;A8MPR0;E5RFS3;Q9UQ53-2	.|MGT4B_HUMAN;.;.;.	G|A	68;52;41;54|258;243;98	.|ENSP00000338487:T258A;ENSP00000292591:T243A;ENSP00000427995:T98A	.|ENSP00000292591:T243A	D|T	-|-	2|1	0|0	MGAT4B|MGAT4B	179159858|179159858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.003000|8.003000	0.88520|0.88520	1.852000|1.852000	0.53769|0.53769	0.448000|0.448000	0.29417|0.29417	GAC|ACC		0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		27	624	0	0	0	1	0	27	624				
PEX12	5193	broad.mit.edu	37	17	33904391	33904391	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33904391A>G	ENST00000225873.4	-	2	953	c.346T>C	c.(346-348)Tct>Cct	p.S116P	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	116					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACATAATAGATTTCCAAAGC	0.433																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(346-348)Tct>Cct		peroxisomal biogenesis factor 12							116.0	131.0	126.0					17																	33904391		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904391A>G	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.346T>C	17.37:g.33904391A>G	ENSP00000225873:p.Ser116Pro						p.S116P	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	953	-			116					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.346T>C	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629455	0.87660	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84873	-1.91	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93810	0.7109	10	0.59425	D	0.04	-11.9731	14.7232	0.69323	1.0:0.0:0.0:0.0	.	116	O00623	PEX12_HUMAN	P	116	ENSP00000225873:S116P	ENSP00000225873:S116P	S	-	1	0	PEX12	30928504	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	8.504000	0.90512	2.077000	0.62373	0.528000	0.53228	TCT		0.433	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		47	1032	0	0	0	1	0	47	1032				
SLC3A1	6519	broad.mit.edu	37	2	44502742	44502742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44502742G>T	ENST00000260649.6	+	1	144	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC3A1_ENST00000409387.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	23					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACAAACAACGGGTTTGTCCAT	0.517																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(67-69)gGg>gTg		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						64.0	62.0	63.0					2																	44502742		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44502742G>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.68G>T	2.37:g.44502742G>T	ENSP00000260649:p.Gly23Val					SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G23V	p.G23V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			1	144	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	23					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.68G>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078546	0.55753	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99719	-5.95;-6.52;-6.03;-6.41;-6.51	5.39	5.39	0.77823	.	0.114768	0.64402	D	0.000014	D	0.99658	0.9873	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.97981	1.0349	10	0.87932	D	0	-20.3066	19.1557	0.93509	0.0:0.0:1.0:0.0	.	23;23;23;23;23	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	V	23	ENSP00000260649:G23V;ENSP00000387308:G23V;ENSP00000387337:G23V;ENSP00000386954:G23V;ENSP00000386620:G23V	ENSP00000260649:G23V	G	+	2	0	SLC3A1	44356246	1.000000	0.71417	0.967000	0.41034	0.147000	0.21601	5.153000	0.64888	2.517000	0.84864	0.462000	0.41574	GGG		0.517	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		30	122	1	0	2.68265e-12	1	2.87809e-12	30	122				
PRDM7	11105	broad.mit.edu	37	16	90160847	90160847	+	5'Flank	SNP	G	G	A	rs8048914	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90160847G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTGCACCACCGCGAGGCCAGC	0.697													.|||	551	0.110024	0.3903	0.0346	5008	,	,		8605	0.004		0.005	False		,,,				2504	0.002					ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90160847G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160847G>A	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	798	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.697	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			5	154	0	0	0	1	0	5	154				
RIF1	55183	broad.mit.edu	37	2	152320230	152320230	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152320230T>C	ENST00000243326.5	+	29	4679	c.4196T>C	c.(4195-4197)gTa>gCa	p.V1399A	RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A|RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATCAAATGGTAAATGAGGAT	0.378																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4195-4197)gTa>gCa		RAP1 interacting factor homolog (yeast)							88.0	92.0	91.0					2																	152320230		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320230T>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4196T>C	2.37:g.152320230T>C	ENSP00000243326:p.Val1399Ala					RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A|RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A	p.V1399A			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4679	+			1399					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.4196T>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	4.390	0.071927	0.08436	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.31	2.89	0.33648	.	1.118960	0.06579	N	0.749939	T	0.26304	0.0642	L	0.56769	1.78	0.09310	N	1	B;B	0.26081	0.087;0.141	B;B	0.24006	0.022;0.05	T	0.33624	-0.9861	10	0.17832	T	0.49	-4.3188	2.2769	0.04104	0.1508:0.1075:0.1553:0.5865	.	1399;1399	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	1399	ENSP00000390181:V1399A;ENSP00000414615:V1399A;ENSP00000415691:V1399A;ENSP00000243326:V1399A;ENSP00000416123:V1399A	ENSP00000243326:V1399A	V	+	2	0	RIF1	152028476	0.001000	0.12720	0.841000	0.33234	0.287000	0.27160	0.326000	0.19646	0.820000	0.34516	0.455000	0.32223	GTA		0.378	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			142	408	0	0	0	1	0	142	408				
PTCH1	5727	broad.mit.edu	37	9	98211451	98211451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98211451C>T	ENST00000331920.6	-	22	4003	c.3704G>A	c.(3703-3705)aGc>aAc	p.S1235N	PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N|PTCH1_ENST00000430669.2_Missense_Mutation_p.S1169N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1084N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1235					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCTCCTCGCTGAGGCCTGA	0.657																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3505-3507)aGc>aAc		patched 1							25.0	26.0	25.0					9																	98211451		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98211451C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3704G>A	9.37:g.98211451C>T	ENSP00000332353:p.Ser1235Asn					PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000331920.6_Missense_Mutation_p.S1235N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1084N	p.S1169N			Q13635	PTC1_HUMAN			22	4091	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1235					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3506G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434805	0.83885	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90676	-2.71;-2.7;-2.68;-2.68;-2.7;-2.68;-2.71	5.95	5.05	0.67936	.	0.079218	0.85682	D	0.000000	D	0.91209	0.7230	L	0.60455	1.87	0.58432	D	0.999998	P;D;D	0.56746	0.899;0.977;0.961	P;P;B	0.49829	0.528;0.623;0.419	D	0.90167	0.4232	10	0.34782	T	0.22	-27.1213	16.7747	0.85548	0.1298:0.8702:0.0:0.0	.	1169;1234;1235	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	N	1235;1169;1084;1084;1169;27;1084;1234	ENSP00000332353:S1235N;ENSP00000389744:S1169N;ENSP00000399981:S1084N;ENSP00000396135:S1084N;ENSP00000410287:S1169N;ENSP00000414823:S1084N;ENSP00000364423:S1234N	ENSP00000332353:S1235N	S	-	2	0	PTCH1	97251272	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.897000	0.69831	1.517000	0.48917	0.655000	0.94253	AGC		0.657	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	106	0	0	0	1	0	4	106				
GIGYF2	26058	broad.mit.edu	37	2	233715097	233715097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233715097C>T	ENST00000409547.1	+	30	4121	c.3810C>T	c.(3808-3810)gtC>gtT	p.V1270V	GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000373566.3_Silent_p.V1292V|GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|GIGYF2_ENST00000373563.4_Silent_p.V1270V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1270					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAAGATGGTCCGAGCAGATC	0.458																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3874-3876)gtC>gtT		GRB10 interacting GYF protein 2							155.0	134.0	141.0					2																	233715097		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233715097C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3810C>T	2.37:g.233715097C>T						GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000409547.1_Silent_p.V1270V|GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|GIGYF2_ENST00000373563.4_Silent_p.V1270V	p.V1292V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	29	4073	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1270					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.3876C>T	CCDS33401.1																																																																																				0.458	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		10	283	0	0	0	1	0	10	283				
NR1H3	10062	broad.mit.edu	37	11	47282040	47282040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47282040G>A	ENST00000467728.1	+	3	1551	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T|NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	105					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGGGGACAAGGCCTCGGGCTT	0.582																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(313-315)Gcc>Acc		nuclear receptor subfamily 1, group H, member 3							73.0	66.0	69.0					11																	47282040		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282040G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.313G>A	11.37:g.47282040G>A	ENSP00000420656:p.Ala105Thr					NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T|NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T	p.A105T			Q13133	NR1H3_HUMAN			3	1551	+			105					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.313G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223251	0.95139	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.35	5.35	0.76521	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.85373	2.75	0.80722	D	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	0.999;0.999;1.0;1.0;1.0	D	0.99782	1.1028	10	0.87932	D	0	.	19.4242	0.94734	0.0:0.0:1.0:0.0	.	111;60;105;60;105	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	T	60;60;60;105;105;105;60;105;105;105;105;105;14	ENSP00000378793:A60T;ENSP00000385073:A60T;ENSP00000433271:A60T;ENSP00000403798:A105T;ENSP00000385801:A105T;ENSP00000391005:A105T;ENSP00000412636:A60T;ENSP00000415591:A105T;ENSP00000387946:A105T;ENSP00000403696:A105T;ENSP00000420656:A105T;ENSP00000384745:A105T;ENSP00000432073:A14T	ENSP00000378793:A60T	A	+	1	0	NR1H3	47238616	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.416000	0.97383	2.653000	0.90120	0.462000	0.41574	GCC		0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			76	334	0	0	0	1	0	76	334				
B3GAT3	26229	broad.mit.edu	37	11	62384603	62384603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62384603G>A	ENST00000265471.5	-	3	701	c.474C>T	c.(472-474)gtC>gtT	p.V158V	B3GAT3_ENST00000534026.1_Silent_p.V158V|B3GAT3_ENST00000531383.1_Silent_p.V158V	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	158					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCCGCTGCTCGACACCACGGG	0.672																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(472-474)gtC>gtT		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							46.0	49.0	48.0					11																	62384603		2202	4299	6501	SO:0001819	synonymous_variant	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62384603G>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.474C>T	11.37:g.62384603G>A						B3GAT3_ENST00000265471.5_Silent_p.V158V|B3GAT3_ENST00000534026.1_Silent_p.V158V	p.V158V			O94766	B3GA3_HUMAN			3	680	-			158					B7ZAB3|Q96I06|Q9UEP0	Silent	SNP	ENST00000265471.5	37	c.474C>T	CCDS8025.1																																																																																				0.672	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		61	322	0	0	0	1	0	61	322				
CLCN2	1181	broad.mit.edu	37	3	184064584	184064584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184064584C>T	ENST00000265593.4	-	24	2678	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q|CLCN2_ENST00000434054.2_Missense_Mutation_p.R792Q|CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	836	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GATGGCCTTCCGGAGCTGGAA	0.612																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(2506-2508)cGg>cAg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						46.0	48.0	47.0					3																	184064584		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184064584C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2507G>A	3.37:g.184064584C>T	ENSP00000265593:p.Arg836Gln					CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|CLCN2_ENST00000434054.2_Missense_Mutation_p.R792Q|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q	p.R836Q	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		24	2678	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		836			CBS 2.		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.2507G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259738	0.80246	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-1.94	5.51	4.64	0.57946	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.983;0.999;0.99	D	0.92637	0.6121	10	0.25751	T	0.34	-16.6565	14.3172	0.66460	0.0:0.9285:0.0:0.0715	.	792;807;819;836;792	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	Q	836;819;792;807	ENSP00000265593:R836Q;ENSP00000345056:R819Q;ENSP00000400425:R792Q;ENSP00000391928:R807Q	ENSP00000265593:R836Q	R	-	2	0	CLCN2	185547278	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.012000	0.57131	1.340000	0.45581	0.655000	0.94253	CGG		0.612	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			79	317	0	0	0	1	0	79	317				
HINFP	25988	broad.mit.edu	37	11	119003857	119003857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003857G>A	ENST00000350777.2	+	9	1130	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	356					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R356Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGCTTCACACGGGGCAACAAC	0.542																																						ENST00000350777.2																			1	Substitution - Missense(1)	p.R356Q(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1066-1068)cGg>cAg		histone H4 transcription factor							160.0	139.0	146.0					11																	119003857		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003857G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1067G>A	11.37:g.119003857G>A	ENSP00000318085:p.Arg356Gln					HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			9	1130	+			356					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1067G>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966882	0.92855	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.56941	0.43;0.43	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	N	0.20401	0.57	0.43841	D	0.996426	D	0.89917	1.0	D	0.72625	0.978	T	0.55134	-0.8188	10	0.24483	T	0.36	-25.9598	19.6517	0.95819	0.0:0.0:1.0:0.0	.	356	Q9BQA5	HINFP_HUMAN	Q	356	ENSP00000318085:R356Q;ENSP00000436815:R356Q	ENSP00000318085:R356Q	R	+	2	0	HINFP	118509067	1.000000	0.71417	0.906000	0.35671	0.978000	0.69477	9.363000	0.97131	2.662000	0.90505	0.655000	0.94253	CGG		0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		132	573	0	0	0	1	0	132	573				
RPS6KA2	6196	broad.mit.edu	37	6	166912074	166912074	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166912074G>A	ENST00000265678.4	-	8	892	c.669C>T	c.(667-669)atC>atT	p.I223I	RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000503859.1_Silent_p.I231I|RPS6KA2_ENST00000481261.2_Silent_p.I134I|RPS6KA2_ENST00000510118.1_Silent_p.I248I	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	223	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCATGTACTCGATCGTCCCGC	0.597																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(742-744)atC>atT		ribosomal protein S6 kinase, 90kDa, polypeptide 2							198.0	130.0	153.0					6																	166912074		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166912074G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.669C>T	6.37:g.166912074G>A						RPS6KA2_ENST00000265678.4_Silent_p.I223I|RPS6KA2_ENST00000503859.1_Silent_p.I231I|RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000481261.2_Silent_p.I134I	p.I248I			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	10	1084	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	223			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.744C>T	CCDS5294.1																																																																																				0.597	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		73	298	0	0	0	1	0	73	298				
FCRL5	83416	broad.mit.edu	37	1	157497598	157497598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157497598G>A	ENST00000361835.3	-	9	1926	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	590	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.P590L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGCCTCTCGGGGCCTCACA	0.592																																						ENST00000361835.3																			1	Substitution - Missense(1)	p.P590L(1)	kidney(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1768-1770)cCg>cTg		Fc receptor-like 5							50.0	54.0	52.0					1																	157497598		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157497598G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1769C>T	1.37:g.157497598G>A	ENSP00000354691:p.Pro590Leu					FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L	p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			9	1926	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	590			Ig-like C2-type 6.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1769C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856532	0.02630	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.53	-7.06	0.01568	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.291230	0.02368	N	0.077557	T	0.00356	0.0011	N	0.01742	-0.745	0.09310	N	1	B;B;B;B	0.14438	0.001;0.0;0.01;0.01	B;B;B;B	0.12837	0.003;0.002;0.008;0.003	T	0.47302	-0.9128	10	0.20046	T	0.44	.	0.9691	0.01412	0.2751:0.1071:0.3055:0.3123	.	505;590;590;590	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	L	590;590;590;505	ENSP00000354691:P590L;ENSP00000349434:P590L;ENSP00000357173:P590L;ENSP00000357174:P505L	ENSP00000349434:P590L	P	-	2	0	FCRL5	155764222	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.865000	0.04250	-1.601000	0.01601	-1.153000	0.01818	CCG		0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		96	397	0	0	0	1	0	96	397				
MYB	4602	broad.mit.edu	37	6	135518322	135518322	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518322C>A	ENST00000367814.4	+	9	1389				MYB_ENST00000442647.2_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.P460Q|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.P473Q|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000531845.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000341911.5_Missense_Mutation_p.P476Q|MYB_ENST00000316528.8_Intron|MYB_ENST00000527615.1_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AGCACAATTCCACTGGTCATC	0.527			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1426-1428)cCa>cAa		v-myb avian myeloblastosis viral oncogene homolog							111.0	98.0	102.0					6																	135518322		1568	3582	5150	SO:0001627	intron_variant	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135518322C>A		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1203+1182C>A	6.37:g.135518322C>A						MYB_ENST00000531845.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.P460Q|MYB_ENST00000534044.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.P473Q	p.P476Q	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	10	1626	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	449					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1427C>A	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026785	0.75390	.	.	ENSG00000118513	ENST00000341911;ENST00000528774;ENST00000534121	T;T;T	0.19938	2.14;2.15;2.11	5.93	5.93	0.95920	.	0.464052	0.21217	N	0.078202	T	0.34600	0.0903	L	0.43923	1.385	0.80722	D	1	P;P;D	0.89917	0.883;0.868;1.0	B;B;D	0.91635	0.299;0.312;0.999	T	0.02167	-1.1202	10	0.56958	D	0.05	-9.8942	20.3539	0.98825	0.0:1.0:0.0:0.0	.	473;460;476	E9PNL6;E9PNA4;P10242-4	.;.;.	Q	476;473;460	ENSP00000339992:P476Q;ENSP00000434723:P473Q;ENSP00000432851:P460Q	ENSP00000339992:P476Q	P	+	2	0	MYB	135560015	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.530000	0.73816	2.826000	0.97356	0.655000	0.94253	CCA		0.527	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			49	265	1	0	1.21353e-23	1	1.38083e-23	49	265				
PRSS12	8492	broad.mit.edu	37	4	119203216	119203216	+	Missense_Mutation	SNP	C	C	T	rs139833696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203216C>T	ENST00000296498.3	-	13	2785	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	835	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G835R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTCTCTCCGGGCCGTTCA	0.547																																						ENST00000296498.3																			1	Substitution - Missense(1)	p.G835R(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2503-2505)Gga>Aga		protease, serine, 12 (neurotrypsin, motopsin)		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	80.0	82.0	81.0		2503	6.2	0.0	4	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRSS12	NM_003619.3	125	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	835/876	119203216	2,13004	2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119203216C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2503G>A	4.37:g.119203216C>T	ENSP00000296498:p.Gly835Arg						p.G835R	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			13	2785	-			835			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2503G>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594280	0.66219	2.27E-4	1.16E-4	ENSG00000164099	ENST00000296498	D	0.93366	-3.21	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.394294	0.30338	N	0.009857	D	0.93943	0.8061	L	0.28556	0.865	0.37830	D	0.92869	D	0.89917	1.0	D	0.71656	0.974	D	0.94576	0.7775	10	0.62326	D	0.03	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	835	P56730	NETR_HUMAN	R	835	ENSP00000296498:G835R	ENSP00000296498:G835R	G	-	1	0	PRSS12	119422664	0.997000	0.39634	0.034000	0.17996	0.379000	0.30106	4.465000	0.60141	2.941000	0.99782	0.655000	0.94253	GGA		0.547	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			80	370	0	0	0	1	0	80	370				
ZNF767P	79970	broad.mit.edu	37	7	149318233	149318233	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149318233A>G	ENST00000463567.1	-	0	486					NR_027788.1		Q75MW2	ZN767_HUMAN												central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			TCAGAGAACTACACAGCCACA	0.577																																						ENST00000463567.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5								zinc finger family member 767																																						79970							g.chr7:149318233A>G																													7.37:g.149318233A>G								NR_027788.1				OV - Ovarian serous cystadenocarcinoma(82;0.00434)		0	486	-	Melanoma(164;0.165)|Ovarian(565;0.177)							D3DWG6|Q86WY4|Q9H9J3	RNA	SNP	ENST00000463567.1	37																																																																																						0.577	ZNF767-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352753.2			67	293	0	0	0	1	0	67	293				
ZNF112	7771	broad.mit.edu	37	19	44833535	44833535	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44833535T>G	ENST00000337401.4	-	5	881	c.793A>C	c.(793-795)Aaa>Caa	p.K265Q	ZNF112_ENST00000536500.1_Missense_Mutation_p.K282Q|ZNF112_ENST00000354340.4_Missense_Mutation_p.K259Q	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTGAAGGCTTTTCTATACCCA	0.433																																						ENST00000354340.4																			0											c.(775-777)Aaa>Caa		zinc finger protein 112							100.0	100.0	100.0					19																	44833535		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833535T>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.793A>C	19.37:g.44833535T>G	ENSP00000337081:p.Lys265Gln					ZNF112_ENST00000337401.4_Missense_Mutation_p.K265Q|ZNF112_ENST00000536500.1_Missense_Mutation_p.K282Q	p.K259Q	NM_013380.3	NP_037512.3					4	826	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.775A>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213710	0.58452	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.21932	1.98;1.98;1.98	5.38	-0.593	0.11667	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.443179	0.16708	N	0.202804	T	0.27559	0.0677	M	0.88842	2.985	0.09310	N	1	B;P;B	0.36990	0.441;0.577;0.441	B;B;B	0.38264	0.138;0.269;0.138	T	0.16276	-1.0408	10	0.56958	D	0.05	-1.8997	6.1902	0.20520	0.0:0.2904:0.136:0.5736	.	264;282;265	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Q	265;265;259;282;264	ENSP00000337081:K265Q;ENSP00000346305:K259Q;ENSP00000441990:K282Q	ENSP00000253426:K264Q	K	-	1	0	ZNF285	49525375	.	.	0.001000	0.08648	0.623000	0.37688	.	.	-0.136000	0.11475	0.459000	0.35465	AAA		0.433	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		93	375	0	0	0	1	0	93	375				
SUSD4	55061	broad.mit.edu	37	1	223441990	223441990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223441990G>A	ENST00000343846.3	-	3	1022	c.389C>T	c.(388-390)gCt>gTt	p.A130V	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.A59V|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V|SUSD4_ENST00000494793.2_Missense_Mutation_p.A130V|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	130	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGAATCTCAGCATCTTCGAT	0.388																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(388-390)gCt>gTt		sushi domain containing 4							192.0	165.0	174.0					1																	223441990		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223441990G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.389C>T	1.37:g.223441990G>A	ENSP00000344219:p.Ala130Val					SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V	p.A130V			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	3	1022	-			130			Sushi 2.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.389C>T	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966494	0.92855	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.66995	-0.24;-0.24;-0.24	5.91	5.91	0.95273	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47852	D	0.000205	T	0.76659	0.4018	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.993;0.987;0.999	T	0.76260	-0.3024	10	0.54805	T	0.06	-17.2517	19.2811	0.94053	0.0:0.0:1.0:0.0	.	59;130;130	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	V	130;130;59;130;130	ENSP00000344219:A130V;ENSP00000355843:A130V;ENSP00000339926:A130V	ENSP00000271787:A130V	A	-	2	0	SUSD4	221508613	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.463000	0.80869	2.802000	0.96397	0.650000	0.86243	GCT		0.388	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		111	366	0	0	0	1	0	111	366				
ANO4	121601	broad.mit.edu	37	12	101436160	101436160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101436160G>A	ENST00000392977.3	+	12	1278	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	ANO4_ENST00000392979.3_Nonsense_Mutation_p.W321*|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	356					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGTTGGGCTGGTACACCGGCA	0.483										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(961-963)tgG>tgA		anoctamin 4							178.0	156.0	163.0					12																	101436160		2203	4300	6503	SO:0001587	stop_gained	121601					chloride channel complex	chloride channel activity	g.chr12:101436160G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1068G>A	12.37:g.101436160G>A	ENSP00000376703:p.Trp356*	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Nonsense_Mutation_p.W356*|ANO4_ENST00000299222.9_5'UTR	p.W321*	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			11	1324	+			356					Q8NAJ0|Q8NB39|Q8NB53	Nonsense_Mutation	SNP	ENST00000392977.3	37	c.963G>A		.	.	.	.	.	.	.	.	.	.	G	40	8.414798	0.98801	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	321;356	.	ENSP00000376703:W356X	W	+	3	0	ANO4	99960291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG		0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		64	245	0	0	0	1	0	64	245				
RNF111	54778	broad.mit.edu	37	15	59368362	59368362	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59368362G>T	ENST00000557998.1	+	7	2183	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H|RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H|RNF111_ENST00000348370.4_Missense_Mutation_p.Q632H	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	632	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCCAGCCCCAGCCCCCTCCAC	0.507																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1894-1896)caG>caT		ring finger protein 111							98.0	105.0	103.0					15																	59368362		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59368362G>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1896G>T	15.37:g.59368362G>T	ENSP00000452732:p.Gln632His					RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H|RNF111_ENST00000557998.1_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H|RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H	p.Q632H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	7	2329	+			632			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.1896G>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353369	0.61293	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17528	2.27;2.27	5.55	3.69	0.42338	.	0.060419	0.64402	D	0.000002	T	0.19327	0.0464	N	0.24115	0.695	0.44366	D	0.99726	D;D;D	0.64830	0.993;0.989;0.994	P;P;P	0.62740	0.891;0.781;0.906	T	0.07693	-1.0759	10	0.34782	T	0.22	-11.2479	4.6727	0.12698	0.2388:0.0:0.608:0.1532	.	632;632;632	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	632	ENSP00000288199:Q632H;ENSP00000393641:Q632H	ENSP00000288199:Q632H	Q	+	3	2	RNF111	57155654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.639000	0.37176	0.831000	0.34780	-0.259000	0.10710	CAG		0.507	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		124	670	1	0	2.82925e-58	1	3.54705e-58	124	670				
STAG1	10274	broad.mit.edu	37	3	136068110	136068110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136068110G>A	ENST00000383202.2	-	29	3417	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	STAG1_ENST00000536929.1_Missense_Mutation_p.T638I|STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000434713.2_Missense_Mutation_p.T794I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1054					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCACCCCCAGTGACTAATGA	0.418																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3160-3162)aCt>aTt		stromal antigen 1							130.0	118.0	122.0					3																	136068110		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136068110G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3161C>T	3.37:g.136068110G>A	ENSP00000372689:p.Thr1054Ile					STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000536929.1_Missense_Mutation_p.T638I|STAG1_ENST00000434713.2_Missense_Mutation_p.T794I	p.T1054I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			29	3417	-			1054					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.3161C>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073453	0.76415	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.31510	1.9;1.9;1.9;1.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.40543	1.245	0.80722	D	1	B;B	0.26708	0.007;0.157	B;B	0.22601	0.009;0.04	T	0.02064	-1.1220	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1054;1054	Q6P275;Q8WVM7	.;STAG1_HUMAN	I	1054;1054;794;638	ENSP00000372689:T1054I;ENSP00000236698:T1054I;ENSP00000404396:T794I;ENSP00000445787:T638I	ENSP00000236698:T1054I	T	-	2	0	STAG1	137550800	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACT		0.418	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		100	367	0	0	0	1	0	100	367				
TNFRSF1A	7132	broad.mit.edu	37	12	6438717	6438717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6438717G>A	ENST00000162749.2	-	10	1428	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	377	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AGCCCTAGGCGCCGCACGAAT	0.701																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1129-1131)Cgc>Tgc		tumor necrosis factor receptor superfamily, member 1A							15.0	16.0	16.0					12																	6438717		2201	4295	6496	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438717G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1129C>T	12.37:g.6438717G>A	ENSP00000162749:p.Arg377Cys					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C	p.R377C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1428	-			377			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.1129C>T	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341803	0.81911	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.85773	-2.03;-2.03	4.88	3.97	0.46021	Death (3);DEATH-like (2);	0.519751	0.21185	N	0.078750	D	0.89969	0.6869	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.938;0.973	D	0.88600	0.3149	10	0.41790	T	0.15	-18.7777	11.7065	0.51599	0.0893:0.0:0.9107:0.0	.	334;377	F5H061;P19438	.;TNR1A_HUMAN	C	377;334	ENSP00000162749:R377C;ENSP00000438343:R334C	ENSP00000162749:R377C	R	-	1	0	TNFRSF1A	6308978	1.000000	0.71417	0.746000	0.31095	0.990000	0.78478	3.202000	0.51067	1.138000	0.42230	0.561000	0.74099	CGC		0.701	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		17	85	0	0	0	1	0	17	85				
SIX3	6496	broad.mit.edu	37	2	45169609	45169609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169609C>T	ENST00000260653.3	+	1	708	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	122					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGGGGCGTGCGAGGCCATCA	0.682																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(364-366)tgC>tgT		SIX homeobox 3							11.0	14.0	13.0					2																	45169609		2027	4066	6093	SO:0001819	synonymous_variant	6496				visual perception	nucleus		g.chr2:45169609C>T	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.366C>T	2.37:g.45169609C>T							p.C122C	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN			1	708	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	122					D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	c.366C>T	CCDS1821.1																																																																																				0.682	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		6	182	0	0	0	1	0	6	182				
CYP39A1	51302	broad.mit.edu	37	6	46563770	46563770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46563770G>T	ENST00000275016.2	-	8	1222	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	340					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GACACCAGGAGCTTTTAAACG	0.343																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1018-1020)gCt>gAt		cytochrome P450, family 39, subfamily A, polypeptide 1							93.0	100.0	97.0					6																	46563770		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46563770G>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1019C>A	6.37:g.46563770G>T	ENSP00000275016:p.Ala340Asp						p.A340D	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			8	1222	-			340					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1019C>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870297	0.72065	.	.	ENSG00000146233	ENST00000275016	T	0.66995	-0.24	5.7	4.81	0.61882	.	0.299368	0.31734	N	0.007156	T	0.71829	0.3386	M	0.72894	2.215	0.41562	D	0.988633	D;D	0.60575	0.988;0.988	P;P	0.60886	0.88;0.88	T	0.76329	-0.2999	10	0.59425	D	0.04	-5.92	14.1785	0.65559	0.0:0.0:0.8503:0.1497	.	320;340	B7Z786;Q9NYL5	.;CP39A_HUMAN	D	340	ENSP00000275016:A340D	ENSP00000275016:A340D	A	-	2	0	CYP39A1	46671729	1.000000	0.71417	0.990000	0.47175	0.836000	0.47400	4.444000	0.60001	1.344000	0.45657	0.557000	0.71058	GCT		0.343	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			94	389	1	0	6.10891e-31	1	7.17913e-31	94	389				
SLC12A5	57468	broad.mit.edu	37	20	44671804	44671804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671804G>A	ENST00000454036.2	+	9	1197	c.1148G>A	c.(1147-1149)aGc>aAc	p.S383N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S360N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	383					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACCTCTGGAGCTCCTACCTG	0.602																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1147-1149)aGc>aAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						153.0	141.0	145.0					20																	44671804		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671804G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1148G>A	20.37:g.44671804G>A	ENSP00000387694:p.Ser383Asn					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.S360N	p.S383N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			9	1224	+		Myeloproliferative disorder(115;0.0122)	383					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1148G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806764	0.50421	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.68624	-0.34;-0.34	4.47	4.47	0.54385	.	0.052501	0.85682	D	0.000000	T	0.64461	0.2600	M	0.73430	2.235	0.80722	D	1	B;B	0.30727	0.118;0.292	B;B	0.33750	0.072;0.169	T	0.59658	-0.7413	10	0.13470	T	0.59	.	12.5309	0.56115	0.0:0.1678:0.8322:0.0	.	383;360	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	383;360	ENSP00000387694:S383N;ENSP00000243964:S360N	ENSP00000243964:S360N	S	+	2	0	SLC12A5	44105211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.158000	0.71851	2.470000	0.83445	0.462000	0.41574	AGC		0.602	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			16	1076	0	0	0	1	0	16	1076				
CYP2C18	1562	broad.mit.edu	37	10	96484190	96484190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96484190C>A	ENST00000285979.6	+	7	1248	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	350					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TACACAGATGCTGTGGTGCAC	0.498																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(1048-1050)gCt>gAt		cytochrome P450, family 2, subfamily C, polypeptide 18							247.0	202.0	217.0					10																	96484190		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96484190C>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1049C>A	10.37:g.96484190C>A	ENSP00000285979:p.Ala350Asp					CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D|CYP2C19_ENST00000464755.1_3'UTR	p.A350D	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	7	1248	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.1049C>A	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	16.43	3.121808	0.56613	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.73258	-0.73;-0.73	4.15	4.15	0.48705	.	0.000000	0.85682	U	0.000000	D	0.90981	0.7164	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.943	D	0.94486	0.7697	10	0.87932	D	0	.	13.9702	0.64235	0.0:1.0:0.0:0.0	.	291;350	Q4VAT5;P33260	.;CP2CI_HUMAN	D	291;350	ENSP00000341293:A291D;ENSP00000285979:A350D	ENSP00000285979:A350D	A	+	2	0	CYP2C18	96474180	1.000000	0.71417	0.078000	0.20375	0.093000	0.18481	5.162000	0.64942	2.115000	0.64714	0.313000	0.20887	GCT		0.498	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		128	539	1	0	1.4482e-55	1	1.81058e-55	128	539				
SMO	6608	broad.mit.edu	37	7	128852143	128852143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128852143C>T	ENST00000249373.3	+	12	2495	c.2215C>T	c.(2215-2217)Cca>Tca	p.P739S	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	739					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CCCATTCTGCCCAGAGCCCAG	0.677			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2215-2217)Cca>Tca		smoothened, frizzled family receptor							35.0	33.0	34.0					7																	128852143		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128852143C>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2215C>T	7.37:g.128852143C>T	ENSP00000249373:p.Pro739Ser					RP11-286H14.8_ENST00000466717.1_RNA	p.P739S	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			12	2495	+			739					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.2215C>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473417	0.63737	.	.	ENSG00000128602	ENST00000249373	T	0.78595	-1.19	5.41	5.41	0.78517	.	0.214510	0.49916	D	0.000135	T	0.61800	0.2376	N	0.14661	0.345	0.53005	D	0.999968	P	0.39480	0.675	B	0.33960	0.173	T	0.64799	-0.6322	10	0.33940	T	0.23	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	739	Q99835	SMO_HUMAN	S	739	ENSP00000249373:P739S	ENSP00000249373:P739S	P	+	1	0	SMO	128639379	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	6.314000	0.72848	2.520000	0.84964	0.591000	0.81541	CCA		0.677	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		18	175	0	0	0	1	0	18	175				
ACE	1636	broad.mit.edu	37	17	61560026	61560026	+	Missense_Mutation	SNP	C	C	A	rs199697957|rs387906576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61560026C>A	ENST00000290866.4	+	8	1342	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	ACE_ENST00000538928.1_Missense_Mutation_p.L440M|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.L440M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	440	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATCGGCCTGCTGGACCGTGT	0.652																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1318-1320)Ctg>Atg		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						71.0	69.0	70.0					17																	61560026		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560026C>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1318C>A	17.37:g.61560026C>A	ENSP00000290866:p.Leu440Met					ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L440M|ACE_ENST00000538928.1_Missense_Mutation_p.L440M	p.L440M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			8	1342	+			440			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1318C>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800922	0.50315	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.50548	0.74;0.74;0.74	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.77177	0.4092	M	0.93594	3.435	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.925	D;D;D	0.91635	0.999;0.999;0.94	D	0.84157	0.0426	10	0.72032	D	0.01	-20.1876	17.8129	0.88622	0.0:1.0:0.0:0.0	.	440;440;440	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	M	440	ENSP00000439591:L440M;ENSP00000290866:L440M;ENSP00000397593:L440M	ENSP00000290866:L440M	L	+	1	2	ACE	58913758	0.998000	0.40836	0.999000	0.59377	0.056000	0.15407	3.852000	0.55934	2.434000	0.82447	0.561000	0.74099	CTG		0.652	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			26	541	1	0	1.5548e-18	1	1.72663e-18	26	541				
PCDHA2	56146	broad.mit.edu	37	5	140176294	140176294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176294C>T	ENST00000526136.1	+	1	1745	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P582L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	582					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGTGGTCGGTG	0.657																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1744-1746)cCg>cTg									112.0	104.0	107.0					5																	140176294		2203	4299	6502	SO:0001583	missense	0							g.chr5:140176294C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1745C>T	5.37:g.140176294C>T	ENSP00000431748:p.Pro582Leu					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P582L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L	p.P582L	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1745	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1745C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	7.812	0.715864	0.15306	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.39229	1.09;1.09;1.09	3.91	2.96	0.34315	Cadherin (1);Cadherin-like (1);	0.689444	0.11686	U	0.539348	T	0.31827	0.0809	L	0.28608	0.87	0.23351	N	0.997858	B;B;B	0.30406	0.236;0.278;0.236	B;B;B	0.24269	0.021;0.052;0.046	T	0.27331	-1.0077	10	0.59425	D	0.04	.	13.5997	0.62011	0.0:0.8437:0.1563:0.0	.	582;582;582	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	582	ENSP00000430584:P582L;ENSP00000367372:P582L;ENSP00000431748:P582L	ENSP00000367372:P582L	P	+	2	0	PCDHA2	140156478	0.005000	0.15991	0.006000	0.13384	0.003000	0.03518	2.184000	0.42575	1.917000	0.55516	0.549000	0.68633	CCG		0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		117	505	0	0	0	1	0	117	505				
GANC	2595	broad.mit.edu	37	15	42602499	42602499	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42602499T>C	ENST00000318010.8	+	9	981	c.741T>C	c.(739-741)cgT>cgC	p.R247R	GANC_ENST00000566442.1_Silent_p.R247R	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	247					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	ATGCTTACCGTCTTTATAACC	0.343																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(739-741)cgT>cgC		glucosidase, alpha; neutral C							103.0	103.0	103.0					15																	42602499		2203	4299	6502	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42602499T>C	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.741T>C	15.37:g.42602499T>C						GANC_ENST00000566442.1_Silent_p.R247R	p.R247R	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	9	981	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	247					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.741T>C	CCDS10084.1																																																																																				0.343	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		16	559	0	0	0	1	0	16	559				
PKP3	11187	broad.mit.edu	37	11	396980	396980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:396980G>A	ENST00000331563.2	+	3	555	c.479G>A	c.(478-480)aGg>aAg	p.R160K	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	160					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCCACCAGGCCCGTGTCC	0.721																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(478-480)aGg>aAg		plakophilin 3							13.0	16.0	15.0					11																	396980		2171	4264	6435	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:396980G>A	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.479G>A	11.37:g.396980G>A	ENSP00000331678:p.Arg160Lys					PKP3_ENST00000530695.1_3'UTR	p.R160K	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	555	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	160					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.479G>A	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282506	0.59867	.	.	ENSG00000184363	ENST00000534401;ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80994	-1.44	3.03	3.03	0.35002	.	1.122620	0.06787	N	0.786346	T	0.78861	0.4350	L	0.50333	1.59	0.35502	D	0.799911	P	0.48764	0.915	B	0.44224	0.444	T	0.75614	-0.3257	10	0.25751	T	0.34	-26.2681	13.4207	0.60996	0.0:0.0:1.0:0.0	.	160	Q9Y446	PKP3_HUMAN	K	4;4;4;4;160;102	ENSP00000331678:R160K	ENSP00000331678:R160K	R	+	2	0	PKP3	386980	1.000000	0.71417	0.958000	0.39756	0.315000	0.28087	1.481000	0.35476	2.007000	0.58848	0.457000	0.33378	AGG		0.721	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		42	129	0	0	0	1	0	42	129				
SLC26A3	1811	broad.mit.edu	37	7	107423656	107423656	+	Silent	SNP	G	G	A	rs146803737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107423656G>A	ENST00000340010.5	-	9	1297	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC26A3_ENST00000422236.2_Silent_p.G336G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	371					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTACCTGATTGCCATCAAGTG	0.418																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1111-1113)ggC>ggT		solute carrier family 26 (anion exchanger), member 3		G		1,4405	2.1+/-5.4	0,1,2202	105.0	98.0	100.0		1113	3.5	1.0	7	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	SLC26A3	NM_000111.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		371/765	107423656	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423656G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1113C>T	7.37:g.107423656G>A						SLC26A3_ENST00000422236.2_Silent_p.G336G	p.G371G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			9	1297	-			371						Silent	SNP	ENST00000340010.5	37	c.1113C>T	CCDS5748.1																																																																																				0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		93	404	0	0	0	1	0	93	404				
GOLGB1	2804	broad.mit.edu	37	3	121400548	121400548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121400548C>T	ENST00000340645.5	-	15	8969	c.8844G>A	c.(8842-8844)gaG>gaA	p.E2948E	GOLGB1_ENST00000393667.3_Silent_p.E2953E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2948					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCTGATGCAGCTCATGCTGCC	0.373																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8857-8859)gaG>gaA		golgin B1							164.0	153.0	157.0					3																	121400548		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121400548C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8844G>A	3.37:g.121400548C>T						GOLGB1_ENST00000340645.5_Silent_p.E2948E	p.E2953E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	15	8969	-			2948					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.8859G>A	CCDS3004.1																																																																																				0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		110	500	0	0	0	1	0	110	500				
PPFIA4	8497	broad.mit.edu	37	1	203033018	203033018	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203033018G>A	ENST00000447715.2	+	30	3312	c.2871G>A	c.(2869-2871)ggG>ggA	p.G957G	PPFIA4_ENST00000414050.2_Silent_p.G686G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000367240.2_Silent_p.G958G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	957	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCAGCCTGGGGCTCCCGCAGT	0.592																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2872-2874)ggG>ggA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							58.0	67.0	63.0					1																	203033018		2203	4300	6503	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203033018G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2871G>A	1.37:g.203033018G>A						PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000447715.2_Silent_p.G957G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000414050.2_Silent_p.G686G	p.G958G			O75335	LIPA4_HUMAN			24	3401	+			473					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.2874G>A																																																																																					0.592	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		64	353	0	0	0	1	0	64	353				
TAS2R9	50835	broad.mit.edu	37	12	10962425	10962425	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962425T>C	ENST00000240691.2	-	1	342	c.250A>G	c.(250-252)Att>Gtt	p.I84V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	84					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACATTCACAATGCTTACTAGC	0.408																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)Att>Gtt		taste receptor, type 2, member 9							106.0	102.0	103.0					12																	10962425		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962425T>C	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.250A>G	12.37:g.10962425T>C	ENSP00000240691:p.Ile84Val						p.I84V	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	342	-			84					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.250A>G	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	T	5.649	0.304332	0.10678	.	.	ENSG00000121381	ENST00000240691	T	0.00808	5.67	4.37	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	0.203864	0.28241	U	0.016077	T	0.00815	0.0027	L	0.37507	1.11	0.09310	N	1	P	0.35077	0.483	B	0.36464	0.225	T	0.50423	-0.8830	10	0.24483	T	0.36	.	4.9559	0.14038	0.0:0.1759:0.2612:0.5629	.	84	Q9NYW1	TA2R9_HUMAN	V	84	ENSP00000240691:I84V	ENSP00000240691:I84V	I	-	1	0	TAS2R9	10853692	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.895000	0.04118	-0.268000	0.09312	-0.361000	0.07541	ATT		0.408	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			8	393	0	0	0	1	0	8	393				
SNX13	23161	broad.mit.edu	37	7	17841237	17841237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17841237G>A	ENST00000409389.1	-	22	2477	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	769					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCCGAAACTCGGCGATGTTCA	0.338																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2305-2307)Cga>Tga		sorting nexin 13							71.0	65.0	67.0					7																	17841237		1844	4085	5929	SO:0001587	stop_gained	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17841237G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2305C>T	7.37:g.17841237G>A	ENSP00000386705:p.Arg769*					SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*|SNX13_ENST00000496855.1_5'UTR	p.R769*			Q9Y5W8	SNX13_HUMAN			22	2477	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		769					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Nonsense_Mutation	SNP	ENST00000409389.1	37	c.2305C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.625400	0.98890	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.7544	15.5809	0.76439	0.066:0.0:0.934:0.0	.	.	.	.	X	769;758;806	.	ENSP00000242044:R806X	R	-	1	2	SNX13	17807762	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.808000	0.75206	1.574000	0.49760	0.650000	0.86243	CGA		0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		15	64	0	0	0	1	0	15	64				
DSP	1832	broad.mit.edu	37	6	7584800	7584800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7584800G>T	ENST00000379802.3	+	24	7646	c.7305G>T	c.(7303-7305)aaG>aaT	p.K2435N	DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2435	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATGCATTAAGGATGAGGAAA	0.413																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7303-7305)aaG>aaT		desmoplakin							96.0	102.0	100.0					6																	7584800		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584800G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7305G>T	6.37:g.7584800G>T	ENSP00000369129:p.Lys2435Asn					DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	p.K2435N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7646	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2435			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7305G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231396	0.22626	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68331	-0.32;-0.32	5.7	2.95	0.34219	.	0.000000	0.64402	D	0.000003	T	0.38957	0.1060	L	0.43152	1.355	0.23492	N	0.997568	D;P	0.60160	0.987;0.922	P;B	0.45712	0.491;0.33	T	0.33727	-0.9857	10	0.19590	T	0.45	.	9.8562	0.41088	0.3409:0.0:0.6591:0.0	.	1883;2435	Q4LE79;P15924	.;DESP_HUMAN	N	2435;1836	ENSP00000369129:K2435N;ENSP00000396591:K1836N	ENSP00000369129:K2435N	K	+	3	2	DSP	7529799	0.971000	0.33674	0.999000	0.59377	0.992000	0.81027	0.281000	0.18810	0.337000	0.23665	0.655000	0.94253	AAG		0.413	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		105	432	1	0	4.31088e-60	1	5.4178e-60	105	432				
CHRNA10	57053	broad.mit.edu	37	11	3688612	3688612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688612G>A	ENST00000250699.2	-	4	816	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Silent_p.C66C	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	249					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	AGCGAGATGAGCACGCAGGGC	0.697																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(745-747)Ctc>Ttc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						23.0	25.0	25.0					11																	3688612		2192	4289	6481	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688612G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.745C>T	11.37:g.3688612G>A	ENSP00000250699:p.Leu249Phe					CHRNA10_ENST00000534359.1_Silent_p.C66C	p.L249F	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	816	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	249						Missense_Mutation	SNP	ENST00000250699.2	37	c.745C>T	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141562	0.37825	.	.	ENSG00000129749	ENST00000250699	D	0.91464	-2.85	5.33	4.41	0.53225	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.377447	0.20813	N	0.085212	D	0.90198	0.6936	M	0.69185	2.1	0.80722	D	1	B	0.34399	0.452	P	0.44477	0.451	D	0.87106	0.2182	10	0.39692	T	0.17	.	6.2434	0.20803	0.0913:0.0:0.6228:0.2859	.	249	Q9GZZ6	ACH10_HUMAN	F	249	ENSP00000250699:L249F	ENSP00000250699:L249F	L	-	1	0	CHRNA10	3645188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.376000	0.34306	1.214000	0.43395	0.561000	0.74099	CTC		0.697	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			28	122	0	0	0	1	0	28	122				
CIB2	10518	broad.mit.edu	37	15	78403609	78403609	+	Silent	SNP	C	C	T	rs541843030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78403609C>T	ENST00000258930.3	-	3	424	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	32					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.0		0.0	False		,,,				2504	0.001					ENST00000258930.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(94-96)tcG>tcA		calcium and integrin binding family member 2							82.0	79.0	80.0					15																	78403609		2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78403609C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.96G>A	15.37:g.78403609C>T						CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000560618.1_5'UTR	p.S32S	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			3	424	-			32					B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.96G>A	CCDS10296.1																																																																																				0.612	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		57	275	0	0	0	1	0	57	275				
FLNA	2316	broad.mit.edu	37	X	153592426	153592426	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592426G>T	ENST00000369850.3	-	15	2480	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	FLNA_ENST00000344736.4_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S|FLNA_ENST00000422373.1_Silent_p.S748S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	748					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTCCCCAGGACACCATGG	0.597																																						ENST00000422373.1																			0				breast(6)	6						c.(2242-2244)tcC>tcA		filamin A, alpha							83.0	90.0	87.0					X																	153592426		2079	4189	6268	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592426G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2244C>A	X.37:g.153592426G>T						FLNA_ENST00000344736.4_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S|FLNA_ENST00000369850.3_Silent_p.S748S	p.S748S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			15	2492	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		748					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.2244C>A	CCDS48194.1																																																																																				0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			147	553	1	0	8.60981e-72	1	1.0949e-71	147	553				
TNC	3371	broad.mit.edu	37	9	117845074	117845074	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117845074G>T	ENST00000350763.4	-	5	2555	c.2144C>A	c.(2143-2145)cCt>cAt	p.P715H	TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000535648.1_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H|TNC_ENST00000537320.1_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	715	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGCCTTCAGGTGCAGGTAA	0.468																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2143-2145)cCt>cAt		tenascin C							109.0	95.0	100.0					9																	117845074		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117845074G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2144C>A	9.37:g.117845074G>T	ENSP00000265131:p.Pro715His					TNC_ENST00000537320.1_Missense_Mutation_p.P715H|TNC_ENST00000535648.1_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H|TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H	p.P715H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			5	2555	-			715			Fibronectin type-III 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2144C>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908000	0.92107	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.79940	-1.32;-0.68;-1.32;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.88	5.88	0.94601	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.050234	0.85682	D	0.000000	D	0.90188	0.6933	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90283	0.4316	10	0.87932	D	0	.	20.2092	0.98286	0.0:0.0:1.0:0.0	.	715;715	E9PC84;P24821	.;TENA_HUMAN	H	715	ENSP00000344400:P715H;ENSP00000438152:P715H;ENSP00000344555:P715H;ENSP00000345861:P715H;ENSP00000265131:P715H;ENSP00000339553:P715H;ENSP00000411406:P715H;ENSP00000443478:P715H;ENSP00000442242:P715H	ENSP00000344400:P715H	P	-	2	0	TNC	116884895	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.848000	0.99507	2.776000	0.95493	0.655000	0.94253	CCT		0.468	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		25	225	1	0	1.1804e-14	1	1.28451e-14	25	225				
TRPM4	54795	broad.mit.edu	37	19	49675021	49675021	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49675021G>T	ENST00000252826.5	+	8	1171	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S|TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	349					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTCCTGCAGGCCCAGGTATG	0.642																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(1045-1047)Gcc>Tcc		transient receptor potential cation channel, subfamily M, member 4							20.0	22.0	21.0					19																	49675021		2203	4299	6502	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49675021G>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1045G>T	19.37:g.49675021G>T	ENSP00000252826:p.Ala349Ser					TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S	p.A349S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	8	1171	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	349					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.1045G>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331366	0.60853	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.35605	1.3;1.3;1.75	5.05	5.05	0.67936	.	0.161181	0.41823	D	0.000807	T	0.51312	0.1667	L	0.51422	1.61	0.23991	N	0.996245	B;D;D;B	0.76494	0.01;0.999;0.99;0.304	B;D;P;B	0.80764	0.029;0.994;0.829;0.105	T	0.40997	-0.9533	10	0.23891	T	0.37	-25.9946	14.2646	0.66107	0.0:0.0:1.0:0.0	.	66;175;349;349	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	349;349;66	ENSP00000252826:A349S;ENSP00000407492:A349S;ENSP00000347944:A66S	ENSP00000252826:A349S	A	+	1	0	TRPM4	54366833	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.828000	0.62730	2.529000	0.85273	0.591000	0.81541	GCC		0.642	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		34	137	1	0	8.4185e-14	1	9.11178e-14	34	137				
CELSR2	1952	broad.mit.edu	37	1	109795960	109795960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109795960G>A	ENST00000271332.3	+	1	3320	c.3259G>A	c.(3259-3261)Gca>Aca	p.A1087T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1087	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTAAGCCGCGCACTGGACAA	0.602																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3259-3261)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 2							42.0	40.0	41.0					1																	109795960		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795960G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3259G>A	1.37:g.109795960G>A	ENSP00000271332:p.Ala1087Thr						p.A1087T	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3320	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1087			Cadherin 9.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3259G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.26	2.185244	0.38609	.	.	ENSG00000143126	ENST00000271332	T	0.50548	0.74	4.92	4.92	0.64577	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.41673	0.1169	L	0.49126	1.545	0.40781	D	0.983178	D	0.62365	0.991	P	0.55923	0.787	T	0.15607	-1.0431	9	0.15499	T	0.54	.	13.7493	0.62897	0.0764:0.0:0.9236:0.0	.	1087	Q9HCU4	CELR2_HUMAN	T	1087	ENSP00000271332:A1087T	ENSP00000271332:A1087T	A	+	1	0	CELSR2	109597483	0.976000	0.34144	0.994000	0.49952	0.978000	0.69477	5.340000	0.65958	2.561000	0.86390	0.650000	0.86243	GCA		0.602	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	225	0	0	0	1	0	6	225				
PFAS	5198	broad.mit.edu	37	17	8161476	8161476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8161476C>A	ENST00000314666.6	+	11	1428	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	432					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGCATTGGGTCCATGGAAGCT	0.607																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1294-1296)tCc>tAc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						73.0	72.0	72.0					17																	8161476		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8161476C>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1295C>A	17.37:g.8161476C>A	ENSP00000313490:p.Ser432Tyr					PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	p.S432Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			11	1428	+			432					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1295C>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233363	0.09969	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.42131	1.51;0.98	5.78	3.66	0.41972	PurM, N-terminal-like (1);	0.110757	0.64402	D	0.000005	T	0.44159	0.1280	M	0.74258	2.255	0.53688	D	0.999974	B	0.32620	0.378	B	0.36186	0.219	T	0.42327	-0.9458	10	0.87932	D	0	-9.5672	8.5399	0.33386	0.0:0.757:0.1488:0.0942	.	432	O15067	PUR4_HUMAN	Y	8;432	ENSP00000441706:S8Y;ENSP00000313490:S432Y	ENSP00000313490:S432Y	S	+	2	0	PFAS	8102201	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.263000	0.51546	0.677000	0.31305	0.561000	0.74099	TCC		0.607	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			96	392	1	0	4.00701e-44	1	4.89994e-44	96	392				
FTMT	94033	broad.mit.edu	37	5	121188106	121188106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121188106C>T	ENST00000321339.1	+	1	457	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	150	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GAAGCCGGAACAGGACGACTG	0.592																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(448-450)Cag>Tag		ferritin mitochondrial							87.0	87.0	87.0					5																	121188106		2203	4300	6503	SO:0001587	stop_gained	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188106C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.448C>T	5.37:g.121188106C>T	ENSP00000313691:p.Gln150*						p.Q150*	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	457	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	150			Ferritin-like diiron.			Nonsense_Mutation	SNP	ENST00000321339.1	37	c.448C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352415	0.61293	.	.	ENSG00000181867	ENST00000321339	.	.	.	3.6	0.63	0.17693	.	0.436377	0.21093	N	0.080300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	5.77	0.18247	0.3134:0.5831:0.0:0.1035	.	.	.	.	X	150	.	ENSP00000313691:Q150X	Q	+	1	0	FTMT	121216005	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	0.807000	0.27140	0.104000	0.17725	0.655000	0.94253	CAG		0.592	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		66	460	0	0	0	1	0	66	460				
GAL3ST4	79690	broad.mit.edu	37	7	99758090	99758090	+	Missense_Mutation	SNP	C	C	T	rs201871972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99758090C>T	ENST00000360039.4	-	4	1314	c.922G>A	c.(922-924)Gat>Aat	p.D308N	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000423751.1_Silent_p.S206S|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|GAL3ST4_ENST00000411994.1_Silent_p.S206S|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N|C7orf43_ENST00000316937.3_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	308					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATGACTCATCGAAGTACTCA	0.557																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(922-924)Gat>Aat		galactose-3-O-sulfotransferase 4							102.0	95.0	97.0					7																	99758090		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758090C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.922G>A	7.37:g.99758090C>T	ENSP00000353142:p.Asp308Asn					GAL3ST4_ENST00000411994.1_Silent_p.S206S|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|GAL3ST4_ENST00000423751.1_Silent_p.S206S|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N	p.D308N	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1314	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		308					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.922G>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922195	0.92319	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.26518	1.73;1.73;1.73	4.82	4.82	0.62117	.	0.000000	0.85682	U	0.000000	T	0.51770	0.1694	M	0.78344	2.41	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.74023	0.978;0.982	T	0.55535	-0.8126	10	0.62326	D	0.03	-9.5784	15.4362	0.75149	0.0:1.0:0.0:0.0	.	246;308	B4DWL8;Q96RP7	.;G3ST4_HUMAN	N	308;308;246	ENSP00000400451:D308N;ENSP00000353142:D308N;ENSP00000398304:D246N	ENSP00000353142:D308N	D	-	1	0	GAL3ST4	99596026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.638000	0.83328	2.518000	0.84900	0.511000	0.50034	GAT		0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		131	547	0	0	0	1	0	131	547				
CECR2	27443	broad.mit.edu	37	22	18028909	18028909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18028909C>T	ENST00000400585.2	+	17	3878	c.3440C>T	c.(3439-3441)tCg>tTg	p.S1147L	CECR2_ENST00000400573.5_Missense_Mutation_p.S1289L|CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1331					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGCAGAGCTCGTTGTCAGCC	0.512																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(3868-3870)tCg>tTg		cat eye syndrome chromosome region, candidate 2							83.0	87.0	85.0					22																	18028909		1946	4144	6090	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028909C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3440C>T	22.37:g.18028909C>T	ENSP00000383428:p.Ser1147Leu					CECR2_ENST00000400585.2_Missense_Mutation_p.S1147L|CECR2_ENST00000400573.4_Missense_Mutation_p.S1289L	p.S1290L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3869	+		all_epithelial(15;0.139)	1331					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.3869C>T		.	.	.	.	.	.	.	.	.	.	C	6.746	0.506528	0.12883	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32515	1.58;1.57;1.45	4.68	2.42	0.29668	.	0.371246	0.19324	N	0.117047	T	0.24353	0.0590	M	0.62723	1.935	0.09310	N	0.999999	P;P;P	0.48998	0.918;0.918;0.918	B;B;B	0.33799	0.17;0.17;0.17	T	0.26503	-1.0101	10	0.72032	D	0.01	-8.035	9.019	0.36188	0.0:0.7703:0.1468:0.0829	.	1331;1147;1289	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1147;1289;1290	ENSP00000383428:S1147L;ENSP00000383417:S1289L;ENSP00000262608:S1290L	ENSP00000262608:S1290L	S	+	2	0	CECR2	16408909	0.011000	0.17503	0.010000	0.14722	0.003000	0.03518	2.305000	0.43664	1.105000	0.41606	-0.266000	0.10368	TCG		0.512	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		105	428	0	0	0	1	0	105	428				
EEF1DP3	196549	broad.mit.edu	37	13	32527230	32527230	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32527230C>T	ENST00000428783.1	+	0	930							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										AAGAAGCCCGCGCTGGTGGCC	0.607																																						ENST00000428783.1																			0																																																			0							g.chr13:32527230C>T			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527230C>T														0	930	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.607	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		20	175	0	0	0	1	0	20	175				
C3orf17	25871	broad.mit.edu	37	3	112736400	112736400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736400C>T	ENST00000314400.5	-	2	347	c.156G>A	c.(154-156)tcG>tcA	p.S52S	RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Silent_p.S52S|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	52					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GGCTCTTCAGCGACAGTATGA	0.418																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(154-156)tcG>tcA		chromosome 3 open reading frame 17							183.0	161.0	169.0					3																	112736400		2203	4300	6503	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112736400C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.156G>A	3.37:g.112736400C>T						C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Silent_p.S52S	p.S52S	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			2	347	-			52					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.156G>A	CCDS33824.1																																																																																				0.418	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		107	545	0	0	0	1	0	107	545				
THEG	51298	broad.mit.edu	37	19	371285	371285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:371285C>T	ENST00000342640.4	-	6	715	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	THEG_ENST00000346878.2_Missense_Mutation_p.E201K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	225					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTGTATTCCAGGGAGGAC	0.632																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(673-675)Gaa>Aaa		theg spermatid protein							113.0	117.0	116.0					19																	371285		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371285C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.673G>A	19.37:g.371285C>T	ENSP00000340088:p.Glu225Lys					THEG_ENST00000346878.2_Missense_Mutation_p.E201K	p.E225K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	715	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	225					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.673G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546472	0.45383	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.24538	1.85;1.85	4.11	3.01	0.34805	.	10.291900	0.00166	N	0.000000	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	P;P	0.49559	0.827;0.925	P;P	0.49597	0.52;0.616	T	0.27806	-1.0063	10	0.23891	T	0.37	-21.2135	9.5418	0.39257	0.0:0.7843:0.2157:0.0	.	201;225	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	K	225;201	ENSP00000340088:E225K;ENSP00000264820:E201K	ENSP00000340088:E225K	E	-	1	0	THEG	322285	0.167000	0.22975	0.013000	0.15412	0.044000	0.14063	1.548000	0.36201	1.002000	0.39104	0.655000	0.94253	GAA		0.632	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			229	882	0	0	0	1	0	229	882				
ACSM3	6296	broad.mit.edu	37	16	20787326	20787326	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20787326A>G	ENST00000289416.5	+	3	860	c.385A>G	c.(385-387)Agg>Ggg	p.R129G	ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G|ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	129					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GATTCTGCCCAGGGTCCCAGA	0.448																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(385-387)Agg>Ggg		acyl-CoA synthetase medium-chain family member 3							86.0	88.0	87.0					16																	20787326		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20787326A>G	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.385A>G	16.37:g.20787326A>G	ENSP00000289416:p.Arg129Gly					ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G|ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G	p.R129G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			3	860	+			129					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.385A>G	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895802	0.72639	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.52526	0.66;0.66;0.66	5.81	2.05	0.26809	AMP-dependent synthetase/ligase (1);	0.303746	0.33732	N	0.004619	T	0.65101	0.2659	M	0.89353	3.025	0.34674	D	0.724058	P;D;D	0.63880	0.675;0.99;0.993	P;P;P	0.60117	0.672;0.869;0.864	T	0.75519	-0.3289	10	0.72032	D	0.01	-10.5388	8.1248	0.30992	0.3688:0.5437:0.0876:0.0	.	84;129;129	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	G	129;129;84	ENSP00000289416:R129G;ENSP00000394565:R129G;ENSP00000395297:R84G	ENSP00000289416:R129G	R	+	1	2	ACSM3	20694827	0.843000	0.29541	1.000000	0.80357	0.869000	0.49853	0.962000	0.29280	1.004000	0.39156	0.383000	0.25322	AGG		0.448	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		84	324	0	0	0	1	0	84	324				
ZNF792	126375	broad.mit.edu	37	19	35449350	35449350	+	Missense_Mutation	SNP	C	C	T	rs146414036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35449350C>T	ENST00000404801.1	-	4	1795	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTGTGAACTCGCTGATGTTT	0.512																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1408-1410)cGa>cAa		zinc finger protein 792		C	GLN/ARG	0,4406		0,0,2203	116.0	112.0	113.0		1409	1.6	0.1	19	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF792	NM_175872.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	470/633	35449350	1,13005	2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449350C>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1409G>A	19.37:g.35449350C>T	ENSP00000385099:p.Arg470Gln					ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	p.R470Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1795	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		470					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1409G>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	18.09	3.545878	0.65198	0.0	1.16E-4	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.24723	1.84	2.61	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42653	0.1212	M	0.69463	2.115	0.23076	N	0.998336	D	0.89917	1.0	D	0.66497	0.944	T	0.13255	-1.0516	9	0.87932	D	0	.	7.4294	0.27118	0.0:0.8604:0.0:0.1396	.	470	Q3KQV3	ZN792_HUMAN	Q	470;230	ENSP00000385099:R470Q	ENSP00000368487:R230Q	R	-	2	0	ZNF792	40141190	0.000000	0.05858	0.136000	0.22124	0.920000	0.55202	0.774000	0.26675	0.665000	0.31066	0.563000	0.77884	CGA		0.512	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		108	461	0	0	0	1	0	108	461				
PCDHB13	56123	broad.mit.edu	37	5	140595716	140595716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595716C>T	ENST00000341948.4	+	1	2208	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	674					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCCTCTCCCGGAGGCGGCC	0.682																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2020-2022)cCg>cTg									56.0	63.0	61.0					5																	140595716		2147	4204	6351	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595716C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2021C>T	5.37:g.140595716C>T	ENSP00000345491:p.Pro674Leu						p.P674L	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2208	+			674					A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2021C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	12.06	1.824541	0.32237	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51071	0.72	3.3	2.41	0.29592	.	.	.	.	.	T	0.49115	0.1538	M	0.90650	3.135	0.09310	N	0.999999	P	0.40398	0.716	B	0.30572	0.117	T	0.50215	-0.8854	9	0.72032	D	0.01	.	8.5099	0.33211	0.0:0.8752:0.0:0.1248	.	674	Q9Y5F0	PCDBD_HUMAN	L	674;674;620	ENSP00000345491:P674L	ENSP00000345491:P674L	P	+	2	0	PCDHB13	140575900	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.080000	0.11339	0.514000	0.28300	0.298000	0.19748	CCG		0.682	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		97	979	0	0	0	1	0	97	979				
RCSD1	92241	broad.mit.edu	37	1	167663376	167663376	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167663376C>T	ENST00000367854.3	+	5	642	c.311C>T	c.(310-312)gCc>gTc	p.A104V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A74V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	104					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTGCCTGGGGCCTCACCCAAG	0.532																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(310-312)gCc>gTc		RCSD domain containing 1							78.0	74.0	75.0					1																	167663376		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167663376C>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.311C>T	1.37:g.167663376C>T	ENSP00000356828:p.Ala104Val					RCSD1_ENST00000537350.1_Missense_Mutation_p.A74V	p.A104V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN			5	642	+	all_hematologic(923;0.215)		104					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.311C>T	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856784	0.71834	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.59224	0.34;0.28	5.18	5.18	0.71444	.	0.292176	0.32175	N	0.006477	T	0.59609	0.2206	L	0.55103	1.725	0.31994	N	0.6041909999999999	D;D	0.89917	0.959;1.0	P;D	0.83275	0.631;0.996	T	0.60850	-0.7181	9	0.33940	T	0.23	-20.1062	9.9718	0.41759	0.0:0.7871:0.1383:0.0745	.	74;104	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	V	104;80;74	ENSP00000356828:A104V;ENSP00000439409:A74V	ENSP00000355291:A80V	A	+	2	0	RCSD1	165930000	0.989000	0.36119	0.996000	0.52242	0.771000	0.43674	1.979000	0.40608	2.572000	0.86782	0.655000	0.94253	GCC		0.532	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		10	407	0	0	0	1	0	10	407				
FZD2	2535	broad.mit.edu	37	17	42635747	42635747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42635747G>A	ENST00000315323.3	+	1	823	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	231					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCGCGGCCCGATGGTTCCAT	0.617																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(691-693)Gat>Aat		frizzled family receptor 2							57.0	54.0	55.0					17																	42635747		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635747G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.691G>A	17.37:g.42635747G>A	ENSP00000323901:p.Asp231Asn						p.D231N	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	823	+		Prostate(33;0.0181)	231					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.691G>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	0.258	-1.001330	0.02128	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73258	-0.73	4.34	4.34	0.51931	.	0.112484	0.64402	D	0.000017	T	0.41396	0.1157	N	0.01874	-0.695	0.31338	N	0.683994	B	0.12630	0.006	B	0.04013	0.001	T	0.30504	-0.9976	10	0.02654	T	1	.	16.4665	0.84080	0.0:0.0:1.0:0.0	.	231	Q14332	FZD2_HUMAN	N	307;231	ENSP00000323901:D231N	ENSP00000323901:D231N	D	+	1	0	FZD2	39991273	0.767000	0.28508	0.806000	0.32338	0.629000	0.37895	1.461000	0.35255	1.935000	0.56089	0.561000	0.74099	GAT		0.617	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		60	301	0	0	0	1	0	60	301				
EPS8L3	79574	broad.mit.edu	37	1	110294717	110294717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110294717C>T	ENST00000361965.4	-	15	1440	c.1334G>A	c.(1333-1335)aGc>aAc	p.S445N	EPS8L3_ENST00000369805.3_Missense_Mutation_p.S446N|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	445						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGTTTGGGGCTGGAGGGCCT	0.577																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1336-1338)aGc>aAc		EPS8-like 3							120.0	134.0	130.0					1																	110294717		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110294717C>T	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1334G>A	1.37:g.110294717C>T	ENSP00000355255:p.Ser445Asn					RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S445N|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N	p.S446N	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	15	1566	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	445					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.1337G>A	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612777	0.46631	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.30182	1.54;1.54;1.54	5.49	0.0683	0.14369	Src homology-3 domain (1);	2.026650	0.01513	N	0.018038	T	0.14700	0.0355	L	0.50333	1.59	0.09310	N	1	P;P;P	0.46142	0.804;0.704;0.873	B;B;P	0.47346	0.36;0.255;0.544	T	0.05500	-1.0881	10	0.22109	T	0.4	-2.3711	4.5838	0.12271	0.0:0.4336:0.3061:0.2603	.	415;445;446	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	N	415;446;445	ENSP00000354551:S415N;ENSP00000358820:S446N;ENSP00000355255:S445N	ENSP00000354551:S415N	S	-	2	0	EPS8L3	110096240	0.058000	0.20735	0.003000	0.11579	0.019000	0.09904	0.822000	0.27352	0.028000	0.15324	0.655000	0.94253	AGC		0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		191	778	0	0	0	1	0	191	778				
USP35	57558	broad.mit.edu	37	11	77924851	77924851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77924851G>A	ENST00000529308.1	+	11	3310	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.V748I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1017					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCACAGACTGGTCTTCTAATG	0.587																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(3049-3051)Gtc>Atc		ubiquitin specific peptidase 35							76.0	76.0	76.0					11																	77924851		2055	4179	6234	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924851G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.3049G>A	11.37:g.77924851G>A	ENSP00000431876:p.Val1017Ile					USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.V748I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I	p.V1017I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3310	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		1017						Missense_Mutation	SNP	ENST00000529308.1	37	c.3049G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.683397	0.88542	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.17854	2.93;3.04;2.25;3.03	4.7	4.7	0.59300	.	0.000000	0.44902	D	0.000404	T	0.40619	0.1124	L	0.61218	1.895	0.47698	D	0.999495	D;D	0.69078	0.984;0.997	D;D	0.73708	0.967;0.981	T	0.31251	-0.9950	10	0.87932	D	0	-37.6217	17.842	0.88718	0.0:0.0:1.0:0.0	.	1017;603	Q9P2H5;E7EWV7	UBP35_HUMAN;.	I	585;1017;603;748	ENSP00000435468:V585I;ENSP00000431876:V1017I;ENSP00000400825:V603I;ENSP00000434942:V748I	ENSP00000400825:V603I	V	+	1	0	USP35	77602499	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.713000	0.74686	2.436000	0.82500	0.558000	0.71614	GTC		0.587	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		45	216	0	0	0	1	0	45	216				
SSH1	54434	broad.mit.edu	37	12	109181823	109181823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109181823G>A	ENST00000326495.5	-	15	3184	c.3091C>T	c.(3091-3093)Cca>Tca	p.P1031S	SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1031	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCCCTGATGGTTTGGAGGTT	0.562																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3091-3093)Cca>Tca		slingshot protein phosphatase 1							98.0	104.0	102.0					12																	109181823		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109181823G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3091C>T	12.37:g.109181823G>A	ENSP00000315713:p.Pro1031Ser					SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	p.P1031S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	3184	-			1031			Interaction with YWHAG.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.3091C>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.722921	0.15439	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12147	2.86;2.71	5.0	-2.85	0.05734	.	3.429030	0.00447	N	0.000081	T	0.08626	0.0214	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24261	-1.0165	10	0.18276	T	0.48	1.3753	4.7863	0.13227	0.3481:0.0856:0.4793:0.0871	.	1031;719	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	719;1031	ENSP00000353374:P719S;ENSP00000315713:P1031S	ENSP00000315713:P1031S	P	-	1	0	SSH1	107705952	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	0.027000	0.13621	-0.805000	0.04404	-0.813000	0.03139	CCA		0.562	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		123	534	0	0	0	1	0	123	534				
TEKT5	146279	broad.mit.edu	37	16	10775953	10775953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10775953C>T	ENST00000283025.2	-	4	831	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	254						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTTTTGTCTTCGAGGTCCCTC	0.542																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(760-762)Gaa>Aaa		tektin 5							242.0	194.0	210.0					16																	10775953		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10775953C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.760G>A	16.37:g.10775953C>T	ENSP00000283025:p.Glu254Lys						p.E254K	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			4	831	-			254					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.760G>A	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	6.681	0.494159	0.12702	.	.	ENSG00000153060	ENST00000283025	T	0.02280	4.36	5.05	5.05	0.67936	.	0.239661	0.28865	N	0.013890	T	0.01254	0.0041	N	0.04203	-0.255	0.30759	N	0.74427	B	0.17852	0.024	B	0.17722	0.019	T	0.34428	-0.9829	10	0.27082	T	0.32	-34.5828	6.6583	0.23000	0.1787:0.7307:0.0:0.0906	.	254	Q96M29	TEKT5_HUMAN	K	254	ENSP00000283025:E254K	ENSP00000283025:E254K	E	-	1	0	TEKT5	10683454	0.307000	0.24500	0.915000	0.36163	0.004000	0.04260	0.882000	0.28186	2.331000	0.79229	0.655000	0.94253	GAA		0.542	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		152	611	0	0	0	1	0	152	611				
PCDHB5	26167	broad.mit.edu	37	5	140516509	140516509	+	Missense_Mutation	SNP	G	G	A	rs376267566	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516509G>A	ENST00000231134.5	+	1	1710	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACACCTGCGCCTCGCCTCC	0.667																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1492-1494)cGc>cAc									111.0	110.0	111.0					5																	140516509		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516509G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1493G>A	5.37:g.140516509G>A	ENSP00000231134:p.Arg498His						p.R498H	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1710	+			498			Cadherin 5.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1493G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	3.799	-0.042113	0.07452	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.01767	4.65	4.44	1.47	0.22746	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01287	0.0042	L	0.31420	0.93	0.09310	N	1	P	0.43024	0.798	B	0.32149	0.141	T	0.50833	-0.8781	9	0.87932	D	0	.	4.3418	0.11113	0.1527:0.4683:0.2975:0.0815	.	498	Q9Y5E4	PCDB5_HUMAN	H	498;282	ENSP00000231134:R498H	ENSP00000231134:R498H	R	+	2	0	PCDHB5	140496693	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.024000	0.13555	0.067000	0.16545	-0.475000	0.04921	CGC		0.667	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		210	864	0	0	0	1	0	210	864				
GRSF1	2926	broad.mit.edu	37	4	71693715	71693715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71693715C>T	ENST00000254799.6	-	6	1106	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	330					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GACATGTGTTCGAACTTCATT	0.353																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(988-990)cGa>cAa		G-rich RNA sequence binding factor 1							151.0	139.0	142.0					4																	71693715		1843	4090	5933	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693715C>T	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.989G>A	4.37:g.71693715C>T	ENSP00000254799:p.Arg330Gln					GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q	p.R330Q	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1106	-		all_hematologic(202;0.21)	330					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.989G>A	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.323593|5.323593	0.95708|0.95708	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	.|T;T;T;T;T	.|0.06371	.|3.31;3.31;3.31;3.31;3.31	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Nucleotide-binding, alpha-beta plait (1);	.|0.268407	.|0.37857	.|N	.|0.001914	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.24115|0.24115	0.695|0.695	0.50632|0.50632	D|D	0.999887|0.999887	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.92;0.992	T|T	0.29458|0.29458	-1.0011|-1.0011	6|10	0.13108|0.17369	T|T	0.6|0.5	-0.9839|-0.9839	19.424|19.424	0.94734|0.94734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|243;330	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	K|Q	267|330;168;262;303;168;212	.|ENSP00000254799:R330Q;ENSP00000389219:R168Q;ENSP00000427354:R303Q;ENSP00000425430:R168Q;ENSP00000443380:R212Q	ENSP00000427644:E95K|ENSP00000254799:R330Q	E|R	-|-	1|2	0|0	GRSF1|GRSF1	71912579|71912579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.468000|2.468000	0.45102|0.45102	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAA|CGA		0.353	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		67	267	0	0	0	1	0	67	267				
DNAH8	1769	broad.mit.edu	37	6	38783391	38783391	+	Missense_Mutation	SNP	G	G	A	rs201712851		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38783391G>A	ENST00000359357.3	+	24	3084	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	944					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTACTGACGTGACCCATCA	0.453																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2830-2832)Gtg>Atg		dynein, axonemal, heavy chain 8							80.0	66.0	71.0					6																	38783391		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38783391G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2830G>A	6.37:g.38783391G>A	ENSP00000352312:p.Val944Met					DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M|DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M	p.V944M							24	3084	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2830G>A		.	.	.	.	.	.	.	.	.	.	G	8.767	0.925106	0.18056	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25749	1.82;1.81;1.78	5.01	-9.35	0.00633	.	2.459610	0.02175	N	0.060021	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15752	-1.0426	10	0.39692	T	0.17	.	6.0353	0.19704	0.1949:0.1663:0.5118:0.1269	.	944	Q96JB1	DYH8_HUMAN	M	1149;1149;944;944	ENSP00000333363:V1149M;ENSP00000352312:V944M;ENSP00000402294:V944M	ENSP00000333363:V1149M	V	+	1	0	DNAH8	38891369	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.233000	0.00139	-2.059000	0.00894	-0.866000	0.03004	GTG		0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		46	159	0	0	0	1	0	46	159				
ZNF606	80095	broad.mit.edu	37	19	58490360	58490360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490360G>T	ENST00000341164.4	-	7	2308	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S563Y(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTGCTCCAGAATGAGTTCT	0.398																																						ENST00000341164.4																			2	Substitution - Missense(2)	p.S563Y(2)	large_intestine(2)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1687-1689)tCt>tAt		zinc finger protein 606							66.0	66.0	66.0					19																	58490360		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490360G>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1688C>A	19.37:g.58490360G>T	ENSP00000343617:p.Ser563Tyr					ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	p.S563Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2308	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	563					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1688C>A	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561739	0.45590	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.19938	2.11;2.11	4.71	4.71	0.59529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299887	0.24513	N	0.037875	T	0.35098	0.0920	L	0.43923	1.385	0.33955	D	0.64489	D	0.71674	0.998	D	0.66196	0.942	T	0.45469	-0.9259	10	0.87932	D	0	.	12.0649	0.53581	0.0:0.0:0.8273:0.1727	.	563	Q8WXB4	ZN606_HUMAN	Y	563;473	ENSP00000343617:S563Y;ENSP00000445624:S473Y	ENSP00000343617:S563Y	S	-	2	0	ZNF606	63182172	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.571000	0.53841	2.597000	0.87782	0.561000	0.74099	TCT		0.398	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		92	278	1	0	4.08182e-41	1	4.95533e-41	92	278				
KIAA0195	9772	broad.mit.edu	37	17	73492836	73492836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73492836G>A	ENST00000314256.7	+	25	3663	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1090						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATGGCATCCGTAAGTGCTTC	0.607																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3268-3270)cGt>cAt		KIAA0195							120.0	111.0	114.0					17																	73492836		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73492836G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3269G>A	17.37:g.73492836G>A	ENSP00000313885:p.Arg1090His					KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H	p.R1090H	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3663	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1090					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3269G>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852943	0.71719	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.89681	-2.55;-2.55	6.04	6.04	0.98038	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.985;1.0	D;D;P;D	0.87578	0.994;0.998;0.604;0.996	D	0.91800	0.5451	10	0.48119	T	0.1	-21.4522	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1100;1100;1090;1090	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	H	1090;1100	ENSP00000313885:R1090H;ENSP00000364397:R1100H	ENSP00000313885:R1090H	R	+	2	0	KIAA0195	71004431	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.834000	0.92094	2.873000	0.98535	0.561000	0.74099	CGT		0.607	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		69	576	0	0	0	1	0	69	576				
SEPT10	151011	broad.mit.edu	37	2	110323436	110323436	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110323436C>A	ENST00000397712.2	-	7	1141	c.763G>T	c.(763-765)Gga>Tga	p.G255*	SEPT10_ENST00000437928.1_Splice_Site_p.G240*|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000415095.1_Splice_Site_p.G255*|SEPT10_ENST00000545389.1_Splice_Site_p.G88*|SEPT10_ENST00000356688.4_Splice_Site_p.G255*|SEPT10_ENST00000334001.6_Splice_Site_p.G122*|SEPT10_ENST00000397714.2_Splice_Site_p.G232*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	255	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCAACTGTCCCTGAAAAAGA	0.388																																						ENST00000356688.4																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.e7-1		septin 10							184.0	165.0	171.0					2																	110323436		1922	4118	6040	SO:0001630	splice_region_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110323436C>A	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.763-1G>T	2.37:g.110323436C>A						SEPT10_ENST00000437928.1_Splice_Site_p.G240_splice|SEPT10_ENST00000415095.1_Splice_Site_p.G255_splice|SEPT10_ENST00000397712.2_Splice_Site_p.G255_splice|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000545389.1_Splice_Site_p.G88_splice|SEPT10_ENST00000397714.2_Splice_Site_p.G232_splice|SEPT10_ENST00000334001.6_Splice_Site_p.G122_splice	p.G255_splice			Q9P0V9	SEP10_HUMAN			7	1078	-			255					B3KRQ9|Q86VP5|Q9HAH6	Splice_Site	SNP	ENST00000397712.2	37	c.762_splice	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289347	0.80914	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000493445;ENST00000423520	.	.	.	5.25	5.25	0.73442	.	0.267610	0.31922	N	0.006845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7996	0.92010	0.0:1.0:0.0:0.0	.	.	.	.	X	213;255;255;232;122;240;88;255;62;88	.	ENSP00000334234:G122X	G	-	1	0	SEPT10	109680725	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.338000	0.79269	2.600000	0.87896	0.650000	0.86243	GGA		0.388	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	Nonsense_Mutation	54	540	1	0	2.76378e-25	1	3.16915e-25	54	540				
SIM1	6492	broad.mit.edu	37	6	100897277	100897277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100897277C>T	ENST00000369208.3	-	6	1287	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SIM1_ENST00000262901.4_Missense_Mutation_p.A169T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	169					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTACGCTTGGCCAAGACGCAC	0.632																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(505-507)Gcc>Acc		single-minded family bHLH transcription factor 1							49.0	43.0	45.0					6																	100897277		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100897277C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.505G>A	6.37:g.100897277C>T	ENSP00000358210:p.Ala169Thr					SIM1_ENST00000262901.4_Missense_Mutation_p.A169T	p.A169T			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	6	1287	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	169					Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.505G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398956	0.83120	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.13307	2.6;2.6	5.54	5.54	0.83059	.	0.287742	0.38058	N	0.001823	T	0.18467	0.0443	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03278	-1.1053	10	0.10636	T	0.68	.	19.4675	0.94948	0.0:1.0:0.0:0.0	.	169	P81133	SIM1_HUMAN	T	169	ENSP00000358210:A169T;ENSP00000262901:A169T	ENSP00000262901:A169T	A	-	1	0	SIM1	101003998	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.602000	0.87976	0.655000	0.94253	GCC		0.632	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		21	130	0	0	0	1	0	21	130				
GLIS1	148979	broad.mit.edu	37	1	53975654	53975654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53975654G>A	ENST00000312233.2	-	8	1971	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGTGGCCCCAGCCCCTTCAGG	0.687																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1405-1407)Ctg>Ttg		GLIS family zinc finger 1							10.0	12.0	11.0					1																	53975654		2169	4237	6406	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53975654G>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1405C>T	1.37:g.53975654G>A							p.L469L	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			8	1971	-			469			Pro-rich.			Silent	SNP	ENST00000312233.2	37	c.1405C>T	CCDS582.1																																																																																				0.687	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		10	41	0	0	0	1	0	10	41				
GPRC5D	55507	broad.mit.edu	37	12	13102917	13102917	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13102917A>G	ENST00000228887.1	-	1	401	c.402T>C	c.(400-402)atT>atC	p.I134I	RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.I134I|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GACTGCAACCAATAGCAATGC	0.463																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(400-402)atT>atC		G protein-coupled receptor, family C, group 5, member D							110.0	95.0	100.0					12																	13102917		2203	4300	6503	SO:0001819	synonymous_variant	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13102917A>G	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.402T>C	12.37:g.13102917A>G						RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Silent_p.I134I|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	p.I134I	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	401	-		Prostate(47;0.183)	134					Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	37	c.402T>C	CCDS8658.1																																																																																				0.463	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			61	266	0	0	0	1	0	61	266				
KIAA0226	9711	broad.mit.edu	37	3	197401903	197401903	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197401903G>T	ENST00000296343.5	-	20	2904	c.2905C>A	c.(2905-2907)Ctg>Atg	p.L969M	KIAA0226_ENST00000273582.5_Missense_Mutation_p.L924M|MIR922_ENST00000401223.1_RNA	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	969					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTGGCCTCCAGGACGGCGGCT	0.677																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2770-2772)Ctg>Atg		KIAA0226																																				SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197401903G>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2905C>A	3.37:g.197401903G>T	ENSP00000296343:p.Leu969Met					KIAA0226_ENST00000296343.5_Missense_Mutation_p.L969M	p.L924M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	21	3315	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		969			Cys-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.2770C>A	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.564|8.564	0.878353|0.878353	0.17395|0.17395	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343|ENST00000413360	.|.	.|.	.|.	5.32|5.32	0.165|0.165	0.14995|0.14995	.|.	0.577690|.	0.14919|.	N|.	0.290777|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.9999|0.9999	P;P|.	0.45176|.	0.852;0.622|.	P;B|.	0.48400|.	0.576;0.372|.	T|T	0.28038|0.28038	-1.0056|-1.0056	9|5	0.72032|.	D|.	0.01|.	.|.	5.3615|5.3615	0.16091|0.16091	0.3426:0.1396:0.5179:0.0|0.3426:0.1396:0.5179:0.0	.|.	924;969|.	Q92622-2;Q92622|.	.;RUBIC_HUMAN|.	M|H	924;969|930	.|.	ENSP00000273582:L924M|.	L|P	-|-	1|2	2|0	KIAA0226|KIAA0226	198886300|198886300	0.637000|0.637000	0.27216|0.27216	0.071000|0.071000	0.20095|0.20095	0.216000|0.216000	0.24613|0.24613	0.920000|0.920000	0.28705|0.28705	0.032000|0.032000	0.15435|0.15435	0.591000|0.591000	0.81541|0.81541	CTG|CCT		0.677	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		77	386	1	0	2.22156e-40	1	2.69346e-40	77	386				
ABRA	137735	broad.mit.edu	37	8	107781789	107781789	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781789C>A	ENST00000311955.3	-	1	684	c.630G>T	c.(628-630)caG>caT	p.Q210H		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCACAGCCACCTGCACTCCAT	0.587																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(628-630)caG>caT		actin-binding Rho activating protein							179.0	183.0	182.0					8																	107781789		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107781789C>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.630G>T	8.37:g.107781789C>A	ENSP00000311436:p.Gln210His						p.Q210H	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	684	-			210						Missense_Mutation	SNP	ENST00000311955.3	37	c.630G>T	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377609	0.11466	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	2.04	0.26737	.	0.741285	0.13532	N	0.380862	T	0.30696	0.0773	L	0.43152	1.355	0.24564	N	0.993958	B	0.09022	0.002	B	0.09377	0.004	T	0.21211	-1.0252	9	0.48119	T	0.1	-32.5051	4.5672	0.12193	0.1199:0.502:0.2599:0.1182	.	210	Q8N0Z2	ABRA_HUMAN	H	210	.	ENSP00000311436:Q210H	Q	-	3	2	ABRA	107850965	0.000000	0.05858	0.989000	0.46669	0.118000	0.20060	-0.066000	0.11598	0.872000	0.35775	0.655000	0.94253	CAG		0.587	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		228	1046	1	0	8.56882e-71	1	1.08875e-70	228	1046				
KAZN	23254	broad.mit.edu	37	1	15420728	15420728	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15420728C>T	ENST00000376030.2	+	9	1569	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	425					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGTCGGAAGGCGAGGAGCAGA	0.677																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(1273-1275)ggC>ggT		kazrin, periplakin interacting protein							37.0	44.0	41.0					1																	15420728		2148	4251	6399	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15420728C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1275C>T	1.37:g.15420728C>T							p.G425G	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			9	1569	+			425					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.1275C>T	CCDS152.2																																																																																				0.677	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		44	176	0	0	0	1	0	44	176				
LANCL1	10314	broad.mit.edu	37	2	211319832	211319832	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211319832G>A	ENST00000443314.1	-	3	748	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	LANCL1_ENST00000450366.2_Splice_Site_p.R136W|LANCL1_ENST00000431941.2_Splice_Site_p.R136W|LANCL1_ENST00000233714.4_Splice_Site_p.R136W|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Splice_Site_p.R136W|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	136					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CATGATTACCGTGTGATGCAA	0.413																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.e3+1		LanC lantibiotic synthetase component C-like 1 (bacterial)							90.0	77.0	81.0					2																	211319832		2203	4300	6503	SO:0001630	splice_region_variant	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211319832G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.407+1C>T	2.37:g.211319832G>A						AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Splice_Site_p.R136_splice|LANCL1_ENST00000431941.2_Splice_Site_p.R136_splice|LANCL1_ENST00000441020.3_Splice_Site_p.R136_splice|LANCL1_ENST00000450366.2_Splice_Site_p.R136_splice	p.R136_splice			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	3	748	-			136						Splice_Site	SNP	ENST00000443314.1	37	c.407_splice	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129799	0.37630	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.64	1.57	0.23409	Six-hairpin glycosidase-like (1);	0.098347	0.64402	D	0.000001	T	0.61048	0.2316	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	T	0.63915	-0.6529	10	0.87932	D	0	.	9.3467	0.38113	0.0647:0.0:0.4569:0.4783	.	136	O43813	LANC1_HUMAN	W	136	ENSP00000388713:R136W;ENSP00000393323:R136W;ENSP00000393597:R136W;ENSP00000233714:R136W;ENSP00000397646:R136W;ENSP00000396518:R136W	ENSP00000233714:R136W	R	-	1	2	LANCL1	211028077	0.990000	0.36364	0.641000	0.29422	0.121000	0.20230	1.256000	0.32921	0.406000	0.25560	0.650000	0.86243	CGG		0.413	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055	Missense_Mutation	89	293	0	0	0	1	0	89	293				
CST9L	128821	broad.mit.edu	37	20	23548955	23548955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23548955G>A	ENST00000376979.3	-	1	431	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	45						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGAGGTAACGAGCCATGACA	0.522																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(133-135)Cgt>Tgt		cystatin 9-like							153.0	120.0	131.0					20																	23548955		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23548955G>A		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.133C>T	20.37:g.23548955G>A	ENSP00000366178:p.Arg45Cys						p.R45C	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			1	431	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		45					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.133C>T	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925552	0.52759	.	.	ENSG00000101435	ENST00000376979	T	0.12984	2.63	1.75	-3.11	0.05299	Proteinase inhibitor I25, cystatin (1);	12.943200	0.00166	N	0.000000	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.56088	0.791	T	0.18023	-1.0350	10	0.59425	D	0.04	.	4.0382	0.09740	0.0:0.2234:0.3274:0.4491	.	45	Q9H4G1	CST9L_HUMAN	C	45	ENSP00000366178:R45C	ENSP00000366178:R45C	R	-	1	0	CST9L	23496955	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-3.436000	0.00471	-0.674000	0.05253	0.313000	0.20887	CGT		0.522	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		26	222	0	0	0	1	0	26	222				
SH3PXD2B	285590	broad.mit.edu	37	5	171780895	171780895	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171780895A>C	ENST00000311601.5	-	9	952	c.782T>G	c.(781-783)aTc>aGc	p.I261S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.I261S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	261	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGTACCTGATCTTCCACCA	0.602																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(781-783)aTc>aGc		SH3 and PX domains 2B							73.0	65.0	68.0					5																	171780895		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171780895A>C	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.782T>G	5.37:g.171780895A>C	ENSP00000309714:p.Ile261Ser					SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.I261S	p.I261S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	952	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	261			SH3 2.		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.782T>G	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404152	0.83230	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.30714	1.52;1.52	5.43	5.43	0.79202	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.64567	1.98	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.55140	-0.8187	10	0.87932	D	0	.	13.43	0.61049	1.0:0.0:0.0:0.0	.	261	A1X283	SPD2B_HUMAN	S	261	ENSP00000430890:I261S;ENSP00000309714:I261S	ENSP00000309714:I261S	I	-	2	0	SH3PXD2B	171713500	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	2.061000	0.61500	0.459000	0.35465	ATC		0.602	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		14	408	0	0	0	1	0	14	408				
ZNF724P	440519	broad.mit.edu	37	19	23406790	23406790	+	Missense_Mutation	SNP	C	C	T	rs200912228		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23406790C>T	ENST00000418100.1	-	4	374	c.257G>A	c.(256-258)cGg>cAg	p.R86Q				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CTGCTCTGGCCGAAGGTCTTG	0.323													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19531	0.0		0.0	False		,,,				2504	0.0					ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(256-258)cGg>cAg																																						SO:0001583	missense	0							g.chr19:23406790C>T			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.257G>A	19.37:g.23406790C>T	ENSP00000413411:p.Arg86Gln						p.R86Q							4	374	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.257G>A		.	.	.	.	.	.	.	.	.	.	C	2.623	-0.288145	0.05605	.	.	ENSG00000196081	ENST00000418100	T	0.06371	3.31	1.28	-1.78	0.07957	.	.	.	.	.	T	0.02571	0.0078	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.47886	-0.9082	8	0.13108	T	0.6	.	2.2763	0.04103	0.0:0.3857:0.3408:0.2736	.	86	A8MTY0	ZN724_HUMAN	Q	86	ENSP00000413411:R86Q	ENSP00000413411:R86Q	R	-	2	0	ZNF724P	23198630	0.172000	0.23043	0.001000	0.08648	0.019000	0.09904	0.096000	0.15147	-0.246000	0.09611	0.491000	0.48974	CGG		0.323	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			8	29	0	0	0	1	0	8	29				
CDH10	1008	broad.mit.edu	37	5	24509737	24509737	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24509737T>G	ENST00000264463.4	-	7	1701	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGTGCCCACTTCAATATCTT	0.403										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1192-1194)gaA>gaC		cadherin 10, type 2 (T2-cadherin)							103.0	103.0	103.0					5																	24509737		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509737T>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1194A>C	5.37:g.24509737T>G	ENSP00000264463:p.Glu398Asp	HNSCC(23;0.051)					p.E398D	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1701	-			398			Cadherin 4.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1194A>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283613	0.40394	.	.	ENSG00000040731	ENST00000264463	T	0.02552	4.25	5.26	2.73	0.32206	Cadherin (3);Cadherin-like (1);	0.228496	0.43579	N	0.000547	T	0.02494	0.0076	L	0.28556	0.865	0.30452	N	0.775141	B	0.13145	0.007	B	0.19148	0.024	T	0.23332	-1.0191	10	0.45353	T	0.12	.	6.4566	0.21934	0.0:0.0833:0.3006:0.6162	.	398	Q9Y6N8	CAD10_HUMAN	D	398	ENSP00000264463:E398D	ENSP00000264463:E398D	E	-	3	2	CDH10	24545494	0.132000	0.22450	1.000000	0.80357	0.994000	0.84299	0.212000	0.17497	0.356000	0.24157	0.528000	0.53228	GAA		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		61	264	0	0	0	1	0	61	264				
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	347					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1039-1041)Gag>Aag		carboxypeptidase X (M14 family), member 1							168.0	161.0	163.0					20																	2777179		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2777179C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1039G>A	20.37:g.2777179C>T	ENSP00000369979:p.Glu347Lys						p.E347K	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			8	1103	-			347					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1039G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958823	0.92726	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10860	2.83	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.05699	-1.0869	10	0.66056	D	0.02	-34.914	16.7686	0.85531	0.0:1.0:0.0:0.0	.	347;347	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	347;43	ENSP00000369979:E347K	ENSP00000369979:E347K	E	-	1	0	CPXM1	2725179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.935000	0.70145	2.825000	0.97269	0.655000	0.94253	GAG		0.612	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		109	494	0	0	0	1	0	109	494				
NFATC4	4776	broad.mit.edu	37	14	24843536	24843536	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843536G>T	ENST00000250373.4	+	6	1878	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000413692.2_Missense_Mutation_p.Q642H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000555802.1_5'UTR	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	579	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGCAGCCCAGCGCTCAGCCC	0.647																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1924-1926)caG>caT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							32.0	28.0	29.0					14																	24843536		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24843536G>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1737G>T	14.37:g.24843536G>T	ENSP00000250373:p.Gln579His					NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000250373.4_Missense_Mutation_p.Q579H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H	p.Q642H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	7	2070	+			579			IPT/TIG.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1926G>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907924	0.72868	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.1	5.1	0.69264	Rel homology (1);p53-like transcription factor, DNA-binding (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.991;0.994;0.991;0.996;0.991;0.982;0.996;0.996;0.996;0.996;0.982;0.991;0.96	T	0.73936	-0.3825	10	0.87932	D	0	-6.7569	9.4289	0.38597	0.0935:0.0:0.9065:0.0	.	567;567;611;611;592;592;592;642;642;567;611;642;579	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	642;642;592;592;592;611;611;611;579;579;579;509;509;509;567;509;567;567;114;114;114	ENSP00000388910:Q642H;ENSP00000452039:Q642H;ENSP00000451224:Q592H;ENSP00000450644:Q592H;ENSP00000388668:Q592H;ENSP00000439350:Q611H;ENSP00000452270:Q611H;ENSP00000451502:Q611H;ENSP00000451151:Q579H;ENSP00000250373:Q579H;ENSP00000450590:Q579H;ENSP00000452349:Q509H;ENSP00000450469:Q509H;ENSP00000450733:Q509H;ENSP00000451454:Q567H;ENSP00000451284:Q509H;ENSP00000396788:Q567H;ENSP00000450686:Q567H;ENSP00000450810:Q114H;ENSP00000451183:Q114H;ENSP00000451395:Q114H	ENSP00000250373:Q579H	Q	+	3	2	NFATC4	23913376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.629000	0.46485	2.644000	0.89710	0.655000	0.94253	CAG		0.647	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		32	135	1	0	8.4185e-14	1	9.11178e-14	32	135				
FOLR3	2352	broad.mit.edu	37	11	71850696	71850696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850696G>A	ENST00000445078.2	+	5	750	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T|FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	185					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CACTCCAGCCGCCCTTTGTGA	0.587																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(679-681)Gcc>Acc		folate receptor 3 (gamma)	Folic Acid(DB00158)						40.0	45.0	43.0					11																	71850696		2199	4292	6491	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850696G>A	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.679G>A	11.37:g.71850696G>A	ENSP00000390338:p.Ala227Thr					FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T|FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T	p.A227T			P41439	FOLR3_HUMAN			5	750	+			185					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.679G>A		.	.	.	.	.	.	.	.	.	.	N	12.05	1.820448	0.32145	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.76839	-1.05;-1.05;-1.05	2.94	-0.6	0.11642	Folate receptor-like (1);	0.923253	0.08805	U	0.891177	T	0.75221	0.3820	.	.	.	0.09310	N	1	D;P	0.63046	0.992;0.948	P;P	0.52793	0.709;0.7	T	0.62891	-0.6758	8	.	.	.	.	3.5719	0.07921	0.2756:0.0:0.5283:0.196	.	229;185	E9PGT2;P41439	.;FOLR3_HUMAN	T	227;229;186	ENSP00000390338:A227T;ENSP00000399235:A229T;ENSP00000411161:A186T	.	A	+	1	0	FOLR3	71528344	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.804000	0.27098	0.092000	0.17331	0.467000	0.42956	GCC		0.587	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		77	334	0	0	0	1	0	77	334				
TCF20	6942	broad.mit.edu	37	22	42609324	42609324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609324C>T	ENST00000359486.3	-	1	2124	c.1988G>A	c.(1987-1989)aGc>aAc	p.S663N	TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	663					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTTCCTTTGCTCCCTCCTCC	0.542																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1987-1989)aGc>aAc		transcription factor 20 (AR1)							119.0	92.0	101.0					22																	42609324		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609324C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1988G>A	22.37:g.42609324C>T	ENSP00000352463:p.Ser663Asn					TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	p.S663N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2124	-			663					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1988G>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	7.809	0.715375	0.15306	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59502	0.26;0.26	5.65	0.00184	0.14048	.	.	.	.	.	T	0.35566	0.0936	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.07888	-1.0749	9	0.36615	T	0.2	-0.3196	9.0709	0.36491	0.0:0.6288:0.0:0.3712	.	663;663	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	663	ENSP00000352463:S663N;ENSP00000335561:S663N	ENSP00000335561:S663N	S	-	2	0	TCF20	40939268	0.190000	0.23276	0.939000	0.37840	0.976000	0.68499	0.230000	0.17852	0.193000	0.20303	0.655000	0.94253	AGC		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		81	374	0	0	0	1	0	81	374				
LONP2	83752	broad.mit.edu	37	16	48385520	48385520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48385520C>T	ENST00000285737.4	+	15	2459	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.A745V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAAGTGCTGGCGGCACACAGA	0.453																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2365-2367)gCg>gTg		lon peptidase 2, peroxisomal							61.0	64.0	63.0					16																	48385520		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48385520C>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2366C>T	16.37:g.48385520C>T	ENSP00000285737:p.Ala789Val					LONP2_ENST00000535754.1_Missense_Mutation_p.A745V|LONP2_ENST00000564259.1_3'UTR	p.A789V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			15	2459	+			789						Missense_Mutation	SNP	ENST00000285737.4	37	c.2366C>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721766	0.96839	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.42131	0.98;0.98	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87938	0.2715	10	0.87932	D	0	-18.7393	20.3938	0.98981	0.0:1.0:0.0:0.0	.	745;789	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	789;518;745	ENSP00000285737:A789V;ENSP00000445426:A745V	ENSP00000285737:A789V	A	+	2	0	LONP2	46943021	1.000000	0.71417	0.990000	0.47175	0.922000	0.55478	7.786000	0.85741	2.831000	0.97527	0.585000	0.79938	GCG		0.453	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		56	222	0	0	0	1	0	56	222				
BCL11B	64919	broad.mit.edu	37	14	99723995	99723995	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99723995C>A	ENST00000357195.3	-	2	249	c.240G>T	c.(238-240)caG>caT	p.Q80H	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Missense_Mutation_p.Q80H	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	80					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGCCGCCACACTGCTTCCTTT	0.607			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(238-240)caG>caT		B-cell CLL/lymphoma 11B (zinc finger protein)							62.0	65.0	64.0					14																	99723995		2203	4300	6503	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99723995C>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.240G>T	14.37:g.99723995C>A	ENSP00000349723:p.Gln80His					BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.Q80H	p.Q80H	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	2	506	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	0					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.240G>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631309	0.46944	.	.	ENSG00000127152	ENST00000357195;ENST00000345514	T;T	0.18657	2.2;2.2	5.89	4.06	0.47325	.	0.088060	0.45867	N	0.000331	T	0.35682	0.0940	L	0.52266	1.64	0.80722	D	1	D;B	0.71674	0.998;0.004	D;B	0.74023	0.982;0.011	T	0.03818	-1.1001	10	0.19590	T	0.45	-16.8894	12.052	0.53511	0.0:0.8138:0.1209:0.0653	.	80;80	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	H	80	ENSP00000349723:Q80H;ENSP00000280435:Q80H	ENSP00000280435:Q80H	Q	-	3	2	BCL11B	98793748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	0.816000	0.34421	0.655000	0.94253	CAG		0.607	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		75	359	1	0	2.14232e-31	1	2.52235e-31	75	359				
RNF219	79596	broad.mit.edu	37	13	79190435	79190435	+	Silent	SNP	C	C	T	rs375756464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190435C>T	ENST00000282003.6	-	6	1519	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	487	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AATTTGCTATCGTGTTCCCCT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20498	0.0		0.0	False		,,,				2504	0.0					ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(1459-1461)acG>acA		ring finger protein 219		C		2,4404	4.2+/-10.8	0,2,2201	49.0	53.0	52.0		1461	-9.0	0.2	13		52	0,8600		0,0,4300	no	coding-synonymous	RNF219	NM_024546.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		487/727	79190435	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79596						zinc ion binding	g.chr13:79190435C>T	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1461G>A	13.37:g.79190435C>T						RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	p.T487T	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	1519	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	487			Ser-rich.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	c.1461G>A	CCDS31997.1																																																																																				0.363	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		45	258	0	0	0	1	0	45	258				
ALDH1L2	160428	broad.mit.edu	37	12	105431901	105431901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105431901G>A	ENST00000258494.9	-	18	2265	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	709	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTTGTCAAGTTCACAGTCA	0.443																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(2125-2127)Ctt>Ttt		aldehyde dehydrogenase 1 family, member L2							92.0	85.0	87.0					12																	105431901		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105431901G>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2125C>T	12.37:g.105431901G>A	ENSP00000258494:p.Leu709Phe					C12orf45_ENST00000548583.1_Intron	p.L709F	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			18	2265	-			709			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2125C>T	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090850	0.76756	.	.	ENSG00000136010	ENST00000258494	T	0.80653	-1.4	5.47	3.62	0.41486	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.153962	0.64402	D	0.000019	D	0.85813	0.5784	M	0.75447	2.3	0.80722	D	1	D	0.57899	0.981	P	0.54372	0.75	D	0.86615	0.1875	10	0.62326	D	0.03	.	14.7689	0.69659	0.0:0.0:0.737:0.263	.	709	Q3SY69	AL1L2_HUMAN	F	709	ENSP00000258494:L709F	ENSP00000258494:L709F	L	-	1	0	ALDH1L2	103956031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	0.647000	0.30713	0.650000	0.86243	CTT		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		65	242	0	0	0	1	0	65	242				
TRIP6	7205	broad.mit.edu	37	7	100470879	100470879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470879C>A	ENST00000200457.4	+	9	1745	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000457580.2_5'Flank|SRRT_ENST00000388793.4_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	462	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTGCAGCGCCTGGCGCATC	0.577																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(1384-1386)gCc>gAc		thyroid hormone receptor interactor 6							87.0	79.0	82.0					7																	100470879		2203	4300	6503	SO:0001583	missense	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100470879C>A	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1385C>A	7.37:g.100470879C>A	ENSP00000200457:p.Ala462Asp						p.A462D	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			9	1745	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		462			LIM zinc-binding 3.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	c.1385C>A	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742577	0.89573	.	.	ENSG00000087077	ENST00000200457	T	0.60424	0.19	4.37	4.37	0.52481	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.74688	-0.3581	10	0.52906	T	0.07	.	14.4634	0.67467	0.0:1.0:0.0:0.0	.	462	Q15654	TRIP6_HUMAN	D	462	ENSP00000200457:A462D	ENSP00000200457:A462D	A	+	2	0	TRIP6	100308815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.709000	0.68384	2.268000	0.75426	0.561000	0.74099	GCC		0.577	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		74	412	1	0	1.1397e-45	1	1.39802e-45	74	412				
NOP14	8602	broad.mit.edu	37	4	2964855	2964855	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2964855C>T	ENST00000314262.6	-	1	240	c.192G>A	c.(190-192)agG>agA	p.R64R	GRK4_ENST00000398052.4_5'Flank|GRK4_ENST00000504933.1_5'Flank|NOP14_ENST00000502735.1_Silent_p.R64R|NOP14-AS1_ENST00000503709.1_RNA|GRK4_ENST00000442472.2_5'Flank|NOP14_ENST00000398071.4_Silent_p.R64R|NOP14_ENST00000416614.2_Silent_p.R64R|GRK4_ENST00000398051.4_5'Flank|GRK4_ENST00000503518.2_5'Flank|GRK4_ENST00000345167.6_5'Flank	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	64					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CGCTTACCTTCCTGAGGGCCC	0.672																																						ENST00000416614.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(190-192)agG>agA		NOP14 nucleolar protein							42.0	48.0	46.0					4																	2964855		2202	4299	6501	SO:0001819	synonymous_variant	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2964855C>T	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.192G>A	4.37:g.2964855C>T						NOP14_ENST00000314262.6_Silent_p.R64R|NOP14_ENST00000502735.1_Silent_p.R64R|NOP14_ENST00000398071.4_Silent_p.R64R	p.R64R			P78316	NOP14_HUMAN			1	257	-			64					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	c.192G>A	CCDS33945.1																																																																																				0.672	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		75	287	0	0	0	1	0	75	287				
PHLPP1	23239	broad.mit.edu	37	18	60646154	60646154	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60646154C>T	ENST00000262719.5	+	17	4878	c.4644C>T	c.(4642-4644)gaC>gaT	p.D1548D	PHLPP1_ENST00000400316.4_Silent_p.D1036D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1548					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TTGACAGTGACGATGAGGAGC	0.622																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3106-3108)gaC>gaT		PH domain and leucine rich repeat protein phosphatase 1							42.0	44.0	43.0					18																	60646154		2102	4211	6313	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646154C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4644C>T	18.37:g.60646154C>T						PHLPP1_ENST00000262719.5_Silent_p.D1548D	p.D1036D	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4889	+			1548					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.3108C>T	CCDS45881.2																																																																																				0.622	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		14	68	0	0	0	1	0	14	68				
PHIP	55023	broad.mit.edu	37	6	79655978	79655978	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79655978C>A	ENST00000275034.4	-	38	4538		c.e38-1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein						cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCTTTCAGGGCTGTAAATAAA	0.328																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.e38-1		pleckstrin homology domain interacting protein							131.0	136.0	134.0					6																	79655978		2203	4300	6503	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655978C>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4371-1G>T	6.37:g.79655978C>A						PHIP_ENST00000479165.1_Splice_Site		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4538	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)						A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	37		CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668108	0.67814	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHIP	79712697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.343000	0.65976	2.941000	0.99782	0.655000	0.94253	.		0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		Intron	85	488	1	0	2.05912e-35	1	2.45818e-35	85	488				
MGA	23269	broad.mit.edu	37	15	42035217	42035217	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42035217A>G	ENST00000570161.1	+	14	5059	c.5059A>G	c.(5059-5061)Act>Gct	p.T1687A	MGA_ENST00000566586.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.T1687A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCAACCATAACTCTTCCTGT	0.498																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5059-5061)Act>Gct		MGA, MAX dimerization protein							157.0	148.0	151.0					15																	42035217		2020	4193	6213	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42035217A>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5059A>G	15.37:g.42035217A>G	ENSP00000457035:p.Thr1687Ala					MGA_ENST00000545763.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.T1687A|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000566586.1_Intron	p.T1687A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	15	5240	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1687			Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.5059A>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022615	0.54683	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.86769	-2.16;-2.17	4.9	4.9	0.64082	.	0.245644	0.28284	N	0.015907	D	0.85588	0.5731	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.58266	0.836;0.694	D	0.87228	0.2258	10	0.87932	D	0	.	11.381	0.49757	0.8487:0.1513:0.0:0.0	.	303;1687	B4DVS1;E7ENI0	.;.	A	1687	ENSP00000219905:T1687A;ENSP00000374586:T1687A	ENSP00000219905:T1687A	T	+	1	0	MGA	39822509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.356000	0.59430	2.056000	0.61249	0.460000	0.39030	ACT		0.498	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		41	201	0	0	0	1	0	41	201				
CASKIN2	57513	broad.mit.edu	37	17	73499216	73499216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73499216C>T	ENST00000321617.3	-	18	2525	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	647						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCGATGGCCATCAGCTCC	0.701																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1939-1941)Gcc>Acc		CASK interacting protein 2							15.0	13.0	14.0					17																	73499216		2195	4286	6481	SO:0001583	missense	57513					cytoplasm		g.chr17:73499216C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1939G>A	17.37:g.73499216C>T	ENSP00000325355:p.Ala647Thr					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	p.A647T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2525	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		647					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.1939G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163119	0.57476	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71698	-0.59;-0.41	5.47	3.48	0.39840	.	0.145311	0.31747	N	0.007130	T	0.60971	0.2310	L	0.50333	1.59	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.54105	-0.8343	10	0.34782	T	0.22	.	8.4734	0.32999	0.0:0.7039:0.0:0.2961	.	647	Q8WXE0	CSKI2_HUMAN	T	647;565	ENSP00000325355:A647T;ENSP00000406963:A565T	ENSP00000325355:A647T	A	-	1	0	CASKIN2	71010811	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	0.742000	0.26216	0.680000	0.31366	0.655000	0.94253	GCC		0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		10	91	0	0	0	1	0	10	91				
CHMP1A	5119	broad.mit.edu	37	16	89712332	89712332	+	3'UTR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89712332G>A	ENST00000397901.3	-	0	989				CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.A238V|CHMP1A_ENST00000535997.2_3'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A						cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CTAAGGCCACGCAGGCCTGGC	0.607																																						ENST00000253475.5																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(712-714)gCg>gTg		charged multivesicular body protein 1A							49.0	61.0	57.0					16																	89712332		2020	4161	6181	SO:0001624	3_prime_UTR_variant	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89712332G>A	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.*142C>T	16.37:g.89712332G>A						CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	p.A238V	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	6	845	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	0					A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	37	c.713C>T	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683188	0.14907	.	.	ENSG00000131165	ENST00000253475	.	.	.	2.63	-1.04	0.10068	.	3.116920	0.01969	U	0.043940	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	B;B	0.18610	0.006;0.029	B;B	0.09377	0.003;0.004	T	0.29852	-0.9998	9	0.87932	D	0	14.5226	6.4226	0.21752	0.3913:0.3273:0.2814:0.0	.	238;330	A6NG32;D3DX81	.;.	V	238	.	ENSP00000253475:A238V	A	-	2	0	CHMP1A	88239833	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.320000	0.02700	-0.338000	0.08413	-0.256000	0.11100	GCG		0.607	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		21	114	0	0	0	1	0	21	114				
USMG5	84833	broad.mit.edu	37	10	105152192	105152192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105152192G>A	ENST00000369825.1	-	3	505	c.23C>T	c.(22-24)gCg>gTg	p.A8V	USMG5_ENST00000369815.1_Missense_Mutation_p.A8V|MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000309579.3_Missense_Mutation_p.A8V|USMG5_ENST00000369811.1_Missense_Mutation_p.A8V|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	8						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		CTGGTATTGCGCATCACTTTC	0.279																																						ENST00000369825.1																			0				breast(1)	1						c.(22-24)gCg>gTg		up-regulated during skeletal muscle growth 5 homolog (mouse)							31.0	36.0	35.0					10																	105152192		2191	4290	6481	SO:0001583	missense	84833					integral to membrane		g.chr10:105152192G>A	BC007087	CCDS7548.1	10q24.33	2011-04-13	2008-06-05		ENSG00000173915	ENSG00000173915			30889	protein-coding gene	gene with protein product		615204	"""upregulated during skeletal muscle growth 5"", ""upregulated during skeletal muscle growth 5 homolog (mouse)"""			12477932	Standard	NM_032747		Approved	MGC14697, bA792D24.4, DAPIT	uc001kwx.2	Q96IX5	OTTHUMG00000018984	ENST00000369825.1:c.23C>T	10.37:g.105152192G>A	ENSP00000358840:p.Ala8Val					USMG5_ENST00000369815.1_Missense_Mutation_p.A8V|USMG5_ENST00000309579.3_Missense_Mutation_p.A8V|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V|USMG5_ENST00000369811.1_Missense_Mutation_p.A8V	p.A8V			Q96IX5	USMG5_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)	3	505	-		Colorectal(252;0.142)	8					B2R4N2|D3DR92	Missense_Mutation	SNP	ENST00000369825.1	37	c.23C>T	CCDS7548.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459732	0.12342	.	.	ENSG00000173915	ENST00000369825;ENST00000369815;ENST00000309579;ENST00000337003;ENST00000369811	.	.	.	6.17	3.11	0.35812	.	0.553031	0.17366	N	0.176845	T	0.37293	0.0998	.	.	.	0.18873	N	0.999986	B	0.15473	0.013	B	0.06405	0.002	T	0.21861	-1.0233	8	0.35671	T	0.21	.	14.0578	0.64781	0.0:0.3137:0.5913:0.095	.	8	Q96IX5	USMG5_HUMAN	V	8	.	ENSP00000311245:A8V	A	-	2	0	USMG5	105142182	0.065000	0.20965	0.996000	0.52242	0.171000	0.22731	1.517000	0.35867	0.823000	0.34589	-0.152000	0.13540	GCG		0.279	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050142.1	NM_032747		36	175	0	0	0	1	0	36	175				
SF3A1	10291	broad.mit.edu	37	22	30737858	30737858	+	Silent	SNP	G	G	T	rs36085017	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30737858G>T	ENST00000215793.8	-	7	1048	c.894C>A	c.(892-894)ccC>ccA	p.P298P	SF3A1_ENST00000439242.1_Silent_p.P233P	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	298					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTGGCGTGGTGGGGGGAGGGA	0.572																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(697-699)ccC>ccA		splicing factor 3a, subunit 1, 120kDa							53.0	50.0	51.0					22																	30737858		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30737858G>T	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.894C>A	22.37:g.30737858G>T						SF3A1_ENST00000215793.7_Silent_p.P298P	p.P233P	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			7	830	-			298					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.699C>A	CCDS13875.1																																																																																				0.572	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		10	288	1	0	2.17888e-05	1	2.22852e-05	10	288				
EPAS1	2034	broad.mit.edu	37	2	46607801	46607801	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46607801G>T	ENST00000263734.3	+	12	2500	c.1990G>T	c.(1990-1992)Gca>Tca	p.A664S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	664					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCTTGGGAGCAGCGCCGTT	0.602																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1990-1992)Gca>Tca		endothelial PAS domain protein 1							74.0	85.0	81.0					2																	46607801		2197	4287	6484	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607801G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1990G>T	2.37:g.46607801G>T	ENSP00000263734:p.Ala664Ser						p.A664S	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2500	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	664					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1990G>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	2.045	-0.419044	0.04766	.	.	ENSG00000116016	ENST00000263734	T	0.44881	0.91	4.69	-2.69	0.06022	.	0.753997	0.11622	N	0.545664	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32214	-0.9915	10	0.02654	T	1	.	5.9118	0.19033	0.478:0.2604:0.2616:0.0	.	664	Q99814	EPAS1_HUMAN	S	664	ENSP00000263734:A664S	ENSP00000263734:A664S	A	+	1	0	EPAS1	46461305	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	-0.243000	0.08915	-0.482000	0.06782	0.585000	0.79938	GCA		0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		128	701	1	0	1.78676e-68	1	2.26603e-68	128	701				
MMP26	56547	broad.mit.edu	37	11	5009471	5009471	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5009471C>A	ENST00000380390.1	+	2	246	c.30C>A	c.(28-30)atC>atA	p.I10I	MMP26_ENST00000300762.1_Silent_p.I10I|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	10					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GAGTTACTATCTTCTTGCCCT	0.488											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(28-30)atC>atA		matrix metallopeptidase 26							307.0	242.0	264.0					11																	5009471		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5009471C>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.30C>A	11.37:g.5009471C>A			OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	623	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000300762.1_Silent_p.I10I	p.I10I			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	246	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	10					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.30C>A	CCDS7752.1																																																																																				0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		98	490	1	0	7.036e-43	1	8.57727e-43	98	490				
TTC21B	79809	broad.mit.edu	37	2	166740357	166740357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166740357C>A	ENST00000243344.7	-	26	3768	c.3631G>T	c.(3631-3633)Gca>Tca	p.A1211S	TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1211					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCATATTTTGCTGATTGAATG	0.368																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(3631-3633)Gca>Tca		tetratricopeptide repeat domain 21B							129.0	127.0	127.0					2																	166740357		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166740357C>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3631G>T	2.37:g.166740357C>A	ENSP00000243344:p.Ala1211Ser					TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	p.A1211S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			26	3768	-			1211					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3631G>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.668998	0.47677	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.36878	1.23;1.23	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.157596	0.56097	D	0.000038	T	0.19287	0.0463	N	0.03999	-0.3	0.33236	D	0.556598	B	0.16166	0.016	B	0.14023	0.01	T	0.15636	-1.0430	10	0.22109	T	0.4	-9.5148	15.3142	0.74059	0.2025:0.7975:0.0:0.0	.	1211	Q7Z4L5	TT21B_HUMAN	S	149;1211	ENSP00000438692:A149S;ENSP00000243344:A1211S	ENSP00000243344:A1211S	A	-	1	0	TTC21B	166448603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.958000	0.56737	2.774000	0.95407	0.585000	0.79938	GCA		0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		77	302	1	0	5.72124e-26	1	6.58255e-26	77	302				
CLK4	57396	broad.mit.edu	37	5	178050414	178050414	+	Missense_Mutation	SNP	G	G	A	rs140778498	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178050414G>A	ENST00000316308.4	-	2	172	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	CLK4_ENST00000520957.1_Missense_Mutation_p.R2W	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	2					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R2W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTGGAATGCCGCATCTGTTGA	0.383																																						ENST00000316308.4																			1	Substitution - Missense(1)	p.R2W(1)	ovary(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(4-6)Cgg>Tgg		CDC-like kinase 4							116.0	99.0	105.0					5																	178050414		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178050414G>A	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.4C>T	5.37:g.178050414G>A	ENSP00000316948:p.Arg2Trp					CLK4_ENST00000520957.1_Missense_Mutation_p.R2W	p.R2W	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	2	172	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2						Missense_Mutation	SNP	ENST00000316308.4	37	c.4C>T	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411057	0.83340	.	.	ENSG00000113240	ENST00000316308;ENST00000536763;ENST00000520957	T	0.08370	3.1	5.56	4.69	0.59074	.	0.058754	0.64402	D	0.000002	T	0.29491	0.0735	M	0.80982	2.52	0.43814	D	0.996376	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.976;0.976;0.999;0.988;0.993	T	0.03344	-1.1046	10	0.72032	D	0.01	.	11.9505	0.52952	0.0:0.0:0.8266:0.1734	.	2;2;2;2;2	B7Z990;B7ZL31;E7EWJ6;Q4G0Z5;Q9HAZ1	.;.;.;.;CLK4_HUMAN	W	2	ENSP00000316948:R2W	ENSP00000316948:R2W	R	-	1	2	CLK4	177983020	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.216000	0.51176	1.346000	0.45694	0.491000	0.48974	CGG		0.383	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			26	263	0	0	0	1	0	26	263				
FLNC	2318	broad.mit.edu	37	7	128481264	128481264	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128481264T>C	ENST00000325888.8	+	12	2115	c.1854T>C	c.(1852-1854)tgT>tgC	p.C618C	FLNC_ENST00000346177.6_Silent_p.C618C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	618					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGATCGAATGTGACGACAAGG	0.627																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1852-1854)tgT>tgC		filamin C, gamma							122.0	129.0	127.0					7																	128481264		2138	4230	6368	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481264T>C	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1854T>C	7.37:g.128481264T>C						FLNC_ENST00000346177.6_Silent_p.C618C	p.C618C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			12	2115	+			618					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1854T>C	CCDS43644.1																																																																																				0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			110	508	0	0	0	1	0	110	508				
LRP5	4041	broad.mit.edu	37	11	68171011	68171011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68171011T>C	ENST00000294304.7	+	8	1751	c.1645T>C	c.(1645-1647)Ttt>Ctt	p.F549L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	549	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCGCACATTTTTGGGTTCAC	0.597																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1645-1647)Ttt>Ctt		low density lipoprotein receptor-related protein 5							101.0	83.0	90.0					11																	68171011		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68171011T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1645T>C	11.37:g.68171011T>C	ENSP00000294304:p.Phe549Leu						p.F549L	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			8	1751	+			549			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1645T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	32	5.155240	0.94686	.	.	ENSG00000162337	ENST00000294304	D	0.91124	-2.79	4.13	4.13	0.48395	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000110	D	0.94228	0.8147	M	0.85859	2.78	0.80722	D	1	P	0.36392	0.551	P	0.50754	0.649	D	0.95161	0.8281	10	0.87932	D	0	.	13.6309	0.62193	0.0:0.0:0.0:1.0	.	549	O75197	LRP5_HUMAN	L	549	ENSP00000294304:F549L	ENSP00000294304:F549L	F	+	1	0	LRP5	67927587	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.727000	0.84838	1.882000	0.54519	0.528000	0.53228	TTT		0.597	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		62	324	0	0	0	1	0	62	324				
KIAA0232	9778	broad.mit.edu	37	4	6864159	6864159	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864159A>G	ENST00000307659.5	+	7	2505	c.2050A>G	c.(2050-2052)Aca>Gca	p.T684A	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	684							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTGGGAAAACACAGTCTAG	0.348																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(2050-2052)Aca>Gca		KIAA0232							65.0	61.0	62.0					4																	6864159		1839	4088	5927	SO:0001583	missense	9778						ATP binding	g.chr4:6864159A>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2050A>G	4.37:g.6864159A>G	ENSP00000303928:p.Thr684Ala					KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	p.T684A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2505	+			684					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.2050A>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809461	0.70797	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.047140	0.85682	D	0.000000	T	0.66107	0.2756	M	0.62723	1.935	0.54753	D	0.999986	P	0.51147	0.942	P	0.50659	0.647	T	0.70189	-0.4940	9	0.72032	D	0.01	-18.0415	16.0174	0.80450	1.0:0.0:0.0:0.0	.	684	Q92628	K0232_HUMAN	A	684	.	ENSP00000303928:T684A	T	+	1	0	KIAA0232	6915060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.811000	0.91954	2.186000	0.69663	0.533000	0.62120	ACA		0.348	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		36	145	0	0	0	1	0	36	145				
DGCR2	9993	broad.mit.edu	37	22	19028666	19028666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19028666G>A	ENST00000263196.7	-	9	1548	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	434					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTTGTATGCCGTGTAGGGAGG	0.642																																						ENST00000263196.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(1300-1302)aCg>aTg		DiGeorge syndrome critical region gene 2							112.0	89.0	97.0					22																	19028666		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19028666G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1301C>T	22.37:g.19028666G>A	ENSP00000263196:p.Thr434Met					DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M|DGCR2_ENST00000545799.1_3'UTR	p.T434M	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN			9	1548	-	Colorectal(54;0.0993)		434					A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.1301C>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790750	0.90367	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97161	0.84;-4.27	5.97	5.97	0.96955	.	0.044331	0.85682	D	0.000000	D	0.98108	0.9376	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67103	0.949;0.891	D	0.97900	1.0302	10	0.48119	T	0.1	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	390;434	B7Z3T5;P98153	.;IDD_HUMAN	M	393;434	ENSP00000440062:T393M;ENSP00000263196:T434M	ENSP00000263196:T434M	T	-	2	0	DGCR2	17408666	1.000000	0.71417	0.975000	0.42487	0.760000	0.43138	7.890000	0.87313	2.837000	0.97791	0.655000	0.94253	ACG		0.642	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		65	295	0	0	0	1	0	65	295				
COL10A1	1300	broad.mit.edu	37	6	116442730	116442730	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116442730A>G	ENST00000327673.4	-	2	956	c.549T>C	c.(547-549)ggT>ggC	p.G183G	COL10A1_ENST00000243222.4_Silent_p.G183G|AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	183	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTCCATTCATACCAGGGACTC	0.592																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(547-549)ggT>ggC		collagen, type X, alpha 1							47.0	47.0	47.0					6																	116442730		2203	4300	6503	SO:0001819	synonymous_variant	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442730A>G		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.549T>C	6.37:g.116442730A>G						AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.G183G	p.G183G			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	956	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	183			Triple-helical region.		A1L4P2	Silent	SNP	ENST00000327673.4	37	c.549T>C	CCDS5105.1																																																																																				0.592	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			54	204	0	0	0	1	0	54	204				
POR	5447	broad.mit.edu	37	7	75616720	75616720	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75616720C>T	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GGTTGAACAACGTCAGCGCGT	0.622																																						ENST00000493111.2																			0													transmembrane protein 120A							35.0	42.0	39.0					7																	75616720		1968	4146	6114	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75616720C>T	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616720C>T						TMEM120A_ENST00000338761.4_RNA				Q9BXJ8	T120A_HUMAN			0	875	-								Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	SNP	ENST00000461988.1	37		CCDS5579.1																																																																																				0.622	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		3	28	0	0	0	1	0	3	28				
EPAS1	2034	broad.mit.edu	37	2	46605830	46605830	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605830A>G	ENST00000263734.3	+	11	1988	c.1478A>G	c.(1477-1479)gAt>gGt	p.D493G		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	493					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACATCTTTGGATAACGACCTG	0.517																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1477-1479)gAt>gGt		endothelial PAS domain protein 1							141.0	133.0	136.0					2																	46605830		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46605830A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1478A>G	2.37:g.46605830A>G	ENSP00000263734:p.Asp493Gly						p.D493G	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		11	1988	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	493					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1478A>G	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512374	0.27036	.	.	ENSG00000116016	ENST00000263734	T	0.52526	0.66	5.54	1.95	0.26073	.	0.700275	0.14954	N	0.288729	T	0.37461	0.1004	L	0.40543	1.245	0.43540	D	0.995834	B	0.09022	0.002	B	0.10450	0.005	T	0.21518	-1.0243	10	0.66056	D	0.02	.	8.9887	0.36010	0.7974:0.0:0.2026:0.0	.	493	Q99814	EPAS1_HUMAN	G	493	ENSP00000263734:D493G	ENSP00000263734:D493G	D	+	2	0	EPAS1	46459334	1.000000	0.71417	0.007000	0.13788	0.082000	0.17680	2.229000	0.42990	0.410000	0.25675	0.528000	0.53228	GAT		0.517	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		21	387	0	0	0	1	0	21	387				
ZNF236	7776	broad.mit.edu	37	18	74649280	74649280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74649280C>T	ENST00000253159.8	+	26	4955	c.4757C>T	c.(4756-4758)aCa>aTa	p.T1586I	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1586					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACACTGTCACACTCAACATC	0.512																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(4756-4758)aCa>aTa		zinc finger protein 236							57.0	57.0	57.0					18																	74649280		2081	4214	6295	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74649280C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4757C>T	18.37:g.74649280C>T	ENSP00000253159:p.Thr1586Ile					ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	p.T1586I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	26	4955	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1586					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4757C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494537	0.44352	.	.	ENSG00000130856	ENST00000253159	T	0.10960	2.82	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.32530	0.975	0.34972	D	0.753266	D	0.76494	0.999	D	0.63488	0.915	T	0.02378	-1.1168	10	0.46703	T	0.11	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	1586	Q9UL36	ZN236_HUMAN	I	1586	ENSP00000253159:T1586I	ENSP00000253159:T1586I	T	+	2	0	ZNF236	72778268	1.000000	0.71417	0.337000	0.25536	0.961000	0.63080	6.460000	0.73518	2.752000	0.94435	0.557000	0.71058	ACA		0.512	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			29	122	0	0	0	1	0	29	122				
ACSBG1	23205	broad.mit.edu	37	15	78474929	78474929	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78474929T>C	ENST00000258873.4	-	7	978	c.773A>G	c.(772-774)gAa>gGa	p.E258G	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	258					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCAGGCACTTCATTCCCCAG	0.617																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(772-774)gAa>gGa		acyl-CoA synthetase bubblegum family member 1							80.0	71.0	74.0					15																	78474929		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474929T>C	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.773A>G	15.37:g.78474929T>C	ENSP00000258873:p.Glu258Gly					ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G	p.E258G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			7	978	-			258					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.773A>G	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063865	0.36373	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10668	2.85;2.85	5.16	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.557117	0.18063	N	0.152890	T	0.08582	0.0213	L	0.34521	1.04	0.18873	N	0.999983	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.32981	-0.9886	10	0.23891	T	0.37	-1.6861	9.7706	0.40587	0.0:0.0821:0.0:0.9179	.	254;258	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	G	258;16	ENSP00000258873:E258G;ENSP00000439955:E16G	ENSP00000258873:E258G	E	-	2	0	ACSBG1	76261984	0.954000	0.32549	0.001000	0.08648	0.511000	0.34104	3.434000	0.52841	0.806000	0.34183	0.529000	0.55759	GAA		0.617	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		53	267	0	0	0	1	0	53	267				
PLXNA4	91584	broad.mit.edu	37	7	132193050	132193050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193050G>A	ENST00000359827.3	-	2	1365	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*			Q9HCM2	PLXA4_HUMAN	plexin A4	135	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGATGCCTTGGTACAGGCTC	0.542																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(403-405)Caa>Taa		plexin A4							65.0	60.0	62.0					7																	132193050		2203	4300	6503	SO:0001587	stop_gained	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193050G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.403C>T	7.37:g.132193050G>A	ENSP00000352882:p.Gln135*					PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*	p.Q135*			Q9HCM2	PLXA4_HUMAN			2	1365	-			135			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	c.403C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876018	0.97904	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1535	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000323194:Q135X	Q	-	1	0	PLXNA4	131843590	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	CAA		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		38	223	0	0	0	1	0	38	223				
TAF3	83860	broad.mit.edu	37	10	8006790	8006790	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8006790C>T	ENST00000344293.5	+	3	1523	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	439					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCACTTCCGCGAACAATT	0.468																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1315-1317)tcC>tcT		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							79.0	80.0	80.0					10																	8006790		1911	4128	6039	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006790C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1317C>T	10.37:g.8006790C>T							p.S439S	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1523	+			439					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.1317C>T	CCDS41487.1																																																																																				0.468	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		93	488	0	0	0	1	0	93	488				
TMEM57	55219	broad.mit.edu	37	1	25818054	25818054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25818054C>T	ENST00000374343.4	+	10	1950	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	591					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.R591W(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGATGCAAAGCGGCAGCTCGA	0.567																																						ENST00000374343.4																			1	Substitution - Missense(1)	p.R591W(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1771-1773)Cgg>Tgg		transmembrane protein 57							78.0	64.0	69.0					1																	25818054		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25818054C>T	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1771C>T	1.37:g.25818054C>T	ENSP00000363463:p.Arg591Trp					TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W	p.R591W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	10	1950	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	591					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1771C>T	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751209	0.69533	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.84298	-1.83;-1.83;-1.83	5.62	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92567	0.6063	10	0.87932	D	0	-10.8737	13.7887	0.63126	0.5177:0.4823:0.0:0.0	.	233;364;591	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	364;233;591	ENSP00000382668:R364W;ENSP00000382666:R233W;ENSP00000363463:R591W	ENSP00000363463:R591W	R	+	1	2	TMEM57	25690641	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	2.343000	0.44001	0.694000	0.31654	-0.309000	0.09137	CGG		0.567	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		16	189	0	0	0	1	0	16	189				
CIC	23152	broad.mit.edu	37	19	42799146	42799146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42799146G>A	ENST00000575354.2	+	20	4670	c.4630G>A	c.(4630-4632)Gct>Act	p.A1544T	CIC_ENST00000572681.2_Missense_Mutation_p.A2450T|CIC_ENST00000160740.3_Missense_Mutation_p.A1542T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1544	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				cactggcaccgctgctgcccc	0.726			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7348-7350)Gct>Act		capicua transcriptional repressor							9.0	11.0	11.0					19																	42799146		2176	4261	6437	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799146G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4630G>A	19.37:g.42799146G>A	ENSP00000458663:p.Ala1544Thr					CIC_ENST00000160740.3_Missense_Mutation_p.A1542T|CIC_ENST00000575354.2_Missense_Mutation_p.A1544T	p.A2450T			Q96RK0	CIC_HUMAN			21	7416	+		Prostate(69;0.00682)	1544					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7348G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.862015	0.32884	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.25	2.12	0.27331	.	.	.	.	.	T	0.17152	0.0412	N	0.08118	0	0.19300	N	0.99998	B	0.12630	0.006	B	0.04013	0.001	T	0.18777	-1.0326	8	0.87932	D	0	-2.1472	3.5746	0.07930	0.2114:0.0:0.5901:0.1984	.	1544	Q96RK0	CIC_HUMAN	T	1544	.	ENSP00000160740:A1544T	A	+	1	0	CIC	47490986	0.046000	0.20272	0.524000	0.27887	0.942000	0.58702	0.040000	0.13905	0.554000	0.29061	0.561000	0.74099	GCT		0.726	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			35	121	0	0	0	1	0	35	121				
MTUS1	57509	broad.mit.edu	37	8	17612546	17612546	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17612546A>G	ENST00000262102.6	-	2	995	c.771T>C	c.(769-771)gtT>gtC	p.V257V	MTUS1_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381869.3_Silent_p.V257V|MTUS1_ENST00000381862.3_Silent_p.V257V	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	257					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAATATCTGAAACAAAAACCT	0.413																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(769-771)gtT>gtC		microtubule associated tumor suppressor 1							193.0	174.0	180.0					8																	17612546		1943	4147	6090	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17612546A>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.771T>C	8.37:g.17612546A>G						MTUS1_ENST00000262102.6_Silent_p.V257V|MTUS1_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381862.3_Silent_p.V257V	p.V257V	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	1244	-			257					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.771T>C	CCDS43717.1																																																																																				0.413	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		123	616	0	0	0	1	0	123	616				
ITPR3	3710	broad.mit.edu	37	6	33647765	33647765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33647765G>T	ENST00000374316.5	+	32	5139	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1360I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1360					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GAGGACCACAGCCCCCTCATG	0.602																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(4078-4080)aGc>aTc		inositol 1,4,5-trisphosphate receptor, type 3							82.0	58.0	66.0					6																	33647765		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33647765G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4079G>T	6.37:g.33647765G>T	ENSP00000363435:p.Ser1360Ile					ITPR3_ENST00000605930.1_Missense_Mutation_p.S1360I	p.S1360I			Q14573	ITPR3_HUMAN			32	5139	+			1360					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.4079G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280461	0.95489	.	.	ENSG00000096433	ENST00000374316	D	0.92699	-3.09	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.70595	2.14	0.80722	D	1	D	0.61697	0.99	P	0.53593	0.73	D	0.94062	0.7327	10	0.87932	D	0	-36.6971	18.1454	0.89653	0.0:0.0:1.0:0.0	.	1360	Q14573	ITPR3_HUMAN	I	1360	ENSP00000363435:S1360I	ENSP00000363435:S1360I	S	+	2	0	ITPR3	33755743	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.624000	0.74243	2.357000	0.79964	0.462000	0.41574	AGC		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		9	242	1	0	1.12685e-05	1	1.15515e-05	9	242				
CDH20	28316	broad.mit.edu	37	18	59221564	59221564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59221564C>T	ENST00000262717.4	+	12	2440	c.2042C>T	c.(2041-2043)gCg>gTg	p.A681V	CDH20_ENST00000538374.1_Missense_Mutation_p.A681V|CDH20_ENST00000536675.2_Missense_Mutation_p.A681V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	681					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTCGACATCGCGGCCATGTGG	0.667																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(2041-2043)gCg>gTg		cadherin 20, type 2							69.0	74.0	72.0					18																	59221564		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221564C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2042C>T	18.37:g.59221564C>T	ENSP00000262717:p.Ala681Val					CDH20_ENST00000536675.2_Missense_Mutation_p.A681V|CDH20_ENST00000538374.1_Missense_Mutation_p.A681V	p.A681V			Q9HBT6	CAD20_HUMAN			12	2440	+		Colorectal(73;0.186)	681					Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.2042C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.085932	0.55861	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76186	-1.0;-1.0;-1.0	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.049067	0.85682	D	0.000000	T	0.69646	0.3134	L	0.39245	1.2	0.58432	D	0.999999	B	0.28291	0.206	B	0.27380	0.079	T	0.64188	-0.6466	10	0.36615	T	0.2	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	681	Q9HBT6	CAD20_HUMAN	V	681	ENSP00000444767:A681V;ENSP00000442226:A681V;ENSP00000262717:A681V	ENSP00000262717:A681V	A	+	2	0	CDH20	57372544	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	4.877000	0.63086	2.894000	0.99253	0.655000	0.94253	GCG		0.667	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		140	668	0	0	0	1	0	140	668				
ZNF496	84838	broad.mit.edu	37	1	247463849	247463849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463849C>T	ENST00000294753.4	-	9	2200	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	579					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)			CTGCTTGGAACGGCGCTTCAT	0.642																																						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.(1735-1737)cGt>cAt		zinc finger protein 496							45.0	45.0	45.0					1																	247463849		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.chr1:247463849C>T	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.1736G>A	1.37:g.247463849C>T	ENSP00000294753:p.Arg579His					ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H|ZNF496_ENST00000462139.1_5'UTR	p.R579H	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2200	-	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)		579					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1736G>A	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873351	0.72180	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08193	3.13;3.12	4.32	4.32	0.51571	Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000102	T	0.25158	0.0611	M	0.88310	2.945	0.36444	D	0.865651	D;D	0.69078	0.994;0.997	P;P	0.54965	0.674;0.765	T	0.31081	-0.9956	10	0.62326	D	0.03	-40.1058	10.5324	0.44983	0.0:0.8032:0.1968:0.0	.	615;579	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	H	579;615	ENSP00000294753:R579H;ENSP00000355454:R615H	ENSP00000294753:R579H	R	-	2	0	ZNF496	245530472	0.992000	0.36948	1.000000	0.80357	0.957000	0.61999	0.839000	0.27586	2.388000	0.81334	0.591000	0.81541	CGT		0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		75	205	0	0	0	1	0	75	205				
GLRA3	8001	broad.mit.edu	37	4	175564991	175564991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175564991G>A	ENST00000274093.3	-	10	1843	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	GLRA3_ENST00000340217.5_Silent_p.Y432Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	447					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AGATAACCCAGTAGAAAATAT	0.398																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(1339-1341)taC>taT		glycine receptor, alpha 3	Glycine(DB00145)						79.0	86.0	84.0					4																	175564991		2203	4300	6503	SO:0001819	synonymous_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175564991G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1341C>T	4.37:g.175564991G>A						GLRA3_ENST00000340217.5_Silent_p.Y432Y	p.Y447Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1843	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	447					D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.1341C>T	CCDS3822.1																																																																																				0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			101	533	0	0	0	1	0	101	533				
NLRP14	338323	broad.mit.edu	37	11	7063707	7063707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7063707C>T	ENST00000299481.4	+	4	796	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	150					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAAGATTTCCATCATGGAA	0.418																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(448-450)ttC>ttT		NLR family, pyrin domain containing 14							70.0	78.0	75.0					11																	7063707		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7063707C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.450C>T	11.37:g.7063707C>T							p.F150F	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	796	+			150					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.450C>T	CCDS7776.1																																																																																				0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		91	341	0	0	0	1	0	91	341				
SYN3	8224	broad.mit.edu	37	22	32992713	32992713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32992713G>A	ENST00000358763.2	-	7	963	c.721C>T	c.(721-723)Cca>Tca	p.P241S	SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	241	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGAAGTGTGGGGCTGTGACC	0.512																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(721-723)Cca>Tca		synapsin III							142.0	109.0	120.0					22																	32992713		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32992713G>A	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.721C>T	22.37:g.32992713G>A	ENSP00000351614:p.Pro241Ser					SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	p.P241S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			7	963	-			241			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.721C>T	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303253	0.40795	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.32272	1.46;1.46	5.05	5.05	0.67936	ATP-grasp fold, subdomain 1 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.55990	1.75	0.45366	D	0.998351	D;D;D	0.59357	0.985;0.985;0.985	D;D;D	0.70487	0.969;0.969;0.969	T	0.29397	-1.0013	10	0.30854	T	0.27	.	13.9058	0.63834	0.0:0.0:1.0:0.0	.	240;241;241	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	S	241	ENSP00000351614:P241S;ENSP00000330219:P241S	ENSP00000330219:P241S	P	-	1	0	SYN3	31322713	1.000000	0.71417	0.999000	0.59377	0.730000	0.41778	2.611000	0.46334	2.340000	0.79590	0.655000	0.94253	CCA		0.512	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			33	177	0	0	0	1	0	33	177				
DLC1	10395	broad.mit.edu	37	8	12968258	12968258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12968258G>A	ENST00000276297.4	-	7	1904	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000512044.2_Silent_p.L96L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	499	SAM.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TACCTGCATAGAGCCTCAATG	0.358																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1495-1497)Cta>Tta		deleted in liver cancer 1							167.0	162.0	164.0					8																	12968258		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12968258G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1495C>T	8.37:g.12968258G>A						DLC1_ENST00000512044.2_Silent_p.L96L|DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000520226.1_5'UTR	p.L499L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			7	1904	-			499			SAM.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1495C>T	CCDS5989.1																																																																																				0.358	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		126	518	0	0	0	1	0	126	518				
CHMP4A	29082	broad.mit.edu	37	14	24679567	24679567	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679567C>T	ENST00000609024.1	-	5	645	c.597G>A	c.(595-597)ctG>ctA	p.L199L	TM9SF1_ENST00000556387.1_Silent_p.L199L|CHMP4A_ENST00000347519.6_Silent_p.L242L|CHMP4A_ENST00000530996.1_Silent_p.L94L|TM9SF1_ENST00000530611.1_Silent_p.L199L|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	199	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GCCCTGCCGGCAGATGAGTAG	0.502																																						ENST00000530611.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(595-597)ctG>ctA		transmembrane 9 superfamily member 1							142.0	145.0	144.0					14																	24679567		2203	4300	6503	SO:0001819	synonymous_variant	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24679567C>T	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.597G>A	14.37:g.24679567C>T						CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Silent_p.L242L|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Silent_p.L199L	p.L199L			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	5	630	-			0					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	ENST00000609024.1	37	c.597G>A		.	.	.	.	.	.	.	.	.	.	C	6.553	0.470224	0.12461	.	.	ENSG00000254505	ENST00000548308	.	.	.	5.46	-0.181	0.13291	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	-7.8791	3.446	0.07481	0.4183:0.3136:0.0:0.2681	.	.	.	.	T	182	.	.	A	-	1	0	AL096870.1	23749407	0.975000	0.34042	0.463000	0.27130	0.239000	0.25481	0.120000	0.15647	0.271000	0.22005	0.561000	0.74099	GCC		0.502	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		12	735	0	0	0	1	0	12	735				
PVRL1	5818	broad.mit.edu	37	11	119535964	119535964	+	Silent	SNP	G	G	A	rs372634692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535964G>A	ENST00000264025.3	-	6	1577	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	349					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCACCGGCCCGGCGCGCCGCC	0.677																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1045-1047)gcC>gcT		poliovirus receptor-related 1 (herpesvirus entry mediator C)		G	,	0,4394		0,0,2197	24.0	28.0	26.0		1047,	-8.6	0.5	11		26	1,8583		0,1,4291	no	coding-synonymous,intron	PVRL1	NM_002855.4,NM_203285.1	,	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	,	349/518,	119535964	1,12977	2197	4292	6489	SO:0001819	synonymous_variant	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535964G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1047C>T	11.37:g.119535964G>A						PVRL1_ENST00000341398.2_Intron	p.A349A	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1577	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	349					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	37	c.1047C>T	CCDS8426.1																																																																																				0.677	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			54	214	0	0	0	1	0	54	214				
ADAMTS2	9509	broad.mit.edu	37	5	178552119	178552119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178552119C>T	ENST00000251582.7	-	19	2914	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	938	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGCACGGAGCGCACCTGCAT	0.687																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2812-2814)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							106.0	105.0	106.0					5																	178552119		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552119C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2813G>A	5.37:g.178552119C>T	ENSP00000251582:p.Arg938His						p.R938H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2914	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	938			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2813G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797898	0.90538	.	.	ENSG00000087116	ENST00000251582	T	0.80824	-1.42	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000026	D	0.94578	0.8253	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96897	0.9657	10	0.87932	D	0	.	18.2057	0.89853	0.0:1.0:0.0:0.0	.	938	O95450	ATS2_HUMAN	H	938	ENSP00000251582:R938H	ENSP00000251582:R938H	R	-	2	0	ADAMTS2	178484725	1.000000	0.71417	0.941000	0.38009	0.476000	0.33039	7.551000	0.82182	2.538000	0.85594	0.655000	0.94253	CGC		0.687	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		63	1033	0	0	0	1	0	63	1033				
CEP152	22995	broad.mit.edu	37	15	49064749	49064749	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064749C>A	ENST00000380950.2	-	13	1904	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y|CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	573					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTATGACAGTCTTTGAGGTCA	0.378																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1717-1719)Gac>Tac		centrosomal protein 152kDa							162.0	147.0	152.0					15																	49064749		1878	4119	5997	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064749C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1717G>T	15.37:g.49064749C>A	ENSP00000370337:p.Asp573Tyr					CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y|CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y	p.D573Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1904	-		all_lung(180;0.0428)	573					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1717G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567788	0.86439	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80653	-1.4;-1.4;-1.4	5.78	2.74	0.32292	.	1.094050	0.06685	N	0.768702	D	0.84906	0.5576	M	0.62723	1.935	0.09310	N	0.999993	D;D;D	0.63880	0.993;0.974;0.988	P;P;P	0.58873	0.847;0.8;0.847	T	0.68387	-0.5422	10	0.72032	D	0.01	-2.1459	5.1919	0.15214	0.1455:0.6256:0.0:0.2288	.	480;573;573	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Y	573;480;573;573	ENSP00000370337:D573Y;ENSP00000321000:D480Y;ENSP00000382271:D573Y	ENSP00000321000:D480Y	D	-	1	0	CEP152	46852041	0.996000	0.38824	0.389000	0.26208	0.996000	0.88848	0.620000	0.24403	0.919000	0.36945	0.591000	0.81541	GAC		0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		72	419	1	0	1.00246e-47	1	1.23503e-47	72	419				
GLI1	2735	broad.mit.edu	37	12	57859671	57859671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57859671G>A	ENST00000228682.2	+	7	816	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y|GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	242					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGGATGGCTGCAGCCAGGAA	0.567																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(724-726)tGc>tAc		GLI family zinc finger 1							64.0	64.0	64.0					12																	57859671		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57859671G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.725G>A	12.37:g.57859671G>A	ENSP00000228682:p.Cys242Tyr					GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y|GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y	p.C242Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		7	816	+			242					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.725G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589314	0.86851	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000022	D	0.98639	0.9544	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99453	1.0941	10	0.87932	D	0	.	16.3848	0.83501	0.0:0.0:1.0:0.0	.	242	P08151	GLI1_HUMAN	Y	114;114;242;201;201;114	ENSP00000436671:C114Y;ENSP00000437607:C114Y;ENSP00000228682:C242Y;ENSP00000441006:C201Y;ENSP00000434408:C201Y	ENSP00000228682:C242Y	C	+	2	0	GLI1	56145938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.561000	0.98142	2.478000	0.83669	0.591000	0.81541	TGC		0.567	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		69	279	0	0	0	1	0	69	279				
TPRG1	285386	broad.mit.edu	37	3	189028272	189028272	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189028272A>G	ENST00000345063.3	+	5	744	c.577A>G	c.(577-579)Act>Gct	p.T193A	TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	193						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCCTTATGCTACTTTCACTGA	0.473																																						ENST00000345063.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(577-579)Act>Gct		tumor protein p63 regulated 1							98.0	94.0	96.0					3																	189028272		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189028272A>G	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.577A>G	3.37:g.189028272A>G	ENSP00000341031:p.Thr193Ala					TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	p.T193A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	5	744	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	193						Missense_Mutation	SNP	ENST00000345063.3	37	c.577A>G	CCDS3292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.579318|4.579318	0.86645|0.86645	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000345063|ENST00000425670	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75715|0.75715	0.3887|0.3887	M|M	0.77486|0.77486	2.375|2.375	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.76658|0.76658	-0.2878|-0.2878	9|5	0.72032|.	D|.	0.01|.	-19.4379|-19.4379	15.0311|15.0311	0.71708|0.71708	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	193|.	Q6ZUI0|.	TPRG1_HUMAN|.	A|C	193|120	.|.	ENSP00000341031:T193A|.	T|Y	+|+	1|2	0|0	TPRG1|TPRG1	190510966|190510966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.976000|0.976000	0.68499|0.68499	6.849000|6.849000	0.75414|0.75414	2.240000|2.240000	0.73641|0.73641	0.477000|0.477000	0.44152|0.44152	ACT|TAC		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		75	390	0	0	0	1	0	75	390				
ZIC2	7546	broad.mit.edu	37	13	100635292	100635292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100635292G>A	ENST00000376335.3	+	1	1267	c.974G>A	c.(973-975)cGc>cAc	p.R325H		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	325			R -> L (in HPE5). {ECO:0000269|PubMed:19177455}.|R -> S (in HPE5). {ECO:0000269|PubMed:19177455}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACCACATCCGCGTGCACACA	0.617																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(973-975)cGc>cAc		Zic family member 2							112.0	119.0	117.0					13																	100635292		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635292G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.974G>A	13.37:g.100635292G>A	ENSP00000365514:p.Arg325His						p.R325H	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1267	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		325		R -> L (in HPE5).|R -> S (in HPE5).			Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.974G>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998919	0.93227	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.96104	-3.91	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061993	0.64402	D	0.000006	D	0.96691	0.8920	L	0.53671	1.685	0.80722	D	1	D	0.65815	0.995	D	0.63488	0.915	D	0.97228	0.9882	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	325	O95409	ZIC2_HUMAN	H	325;74	ENSP00000365514:R325H	ENSP00000365514:R325H	R	+	2	0	ZIC2	99433293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.610000	0.88304	0.561000	0.74099	CGC		0.617	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		17	671	0	0	0	1	0	17	671				
FER1L6	654463	broad.mit.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1798						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5392-5394)cGc>cAc		fer-1-like 6 (C. elegans)							150.0	149.0	149.0					8																	125131850		1922	4125	6047	SO:0001583	missense	654463					integral to membrane		g.chr8:125131850G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5393G>A	8.37:g.125131850G>A	ENSP00000428280:p.Arg1798His					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H	p.R1798H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		41	5599	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1798						Missense_Mutation	SNP	ENST00000522917.1	37	c.5393G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521546	0.96416	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86562	-2.14;-2.14	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	D	0.95576	0.8562	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95455	0.8538	10	0.87932	D	0	-21.24	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1798	Q2WGJ9	FR1L6_HUMAN	H	1798	ENSP00000428280:R1798H;ENSP00000381982:R1798H	ENSP00000381982:R1798H	R	+	2	0	FER1L6	125201031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		58	514	0	0	0	1	0	58	514				
C12orf42	374470	broad.mit.edu	37	12	103700054	103700054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103700054G>T	ENST00000378113.2	-	5	554	c.329C>A	c.(328-330)cCc>cAc	p.P110H	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.P43H|C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	110										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AGAACACCTGGGGACTATGTA	0.398																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(127-129)cCc>cAc		chromosome 12 open reading frame 42							61.0	62.0	62.0					12																	103700054		1837	4086	5923	SO:0001583	missense	374470							g.chr12:103700054G>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.329C>A	12.37:g.103700054G>T	ENSP00000367353:p.Pro110His					C12orf42_ENST00000378113.2_Missense_Mutation_p.P110H|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H|C12orf42_ENST00000315192.8_Intron	p.P43H			Q96LP6	CL042_HUMAN			8	624	-			110					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.128C>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349636	0.61183	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.21	4.21	0.49690	.	0.214048	0.23758	N	0.044846	T	0.67458	0.2895	L	0.29908	0.895	0.25731	N	0.985263	D	0.89917	1.0	D	0.81914	0.995	T	0.59418	-0.7458	10	0.87932	D	0	-10.6708	12.4434	0.55637	0.0:0.0:1.0:0.0	.	110	Q96LP6	CL042_HUMAN	H	110;43;110;110	ENSP00000447908:P110H;ENSP00000449362:P43H;ENSP00000367353:P110H;ENSP00000447795:P110H	ENSP00000367353:P110H	P	-	2	0	C12orf42	102224184	0.963000	0.33076	0.643000	0.29450	0.071000	0.16799	3.419000	0.52728	2.646000	0.89796	0.449000	0.29647	CCC		0.398	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		12	112	1	0	3.07112e-06	1	3.16074e-06	12	112				
NCAN	1463	broad.mit.edu	37	19	19351435	19351435	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19351435A>G	ENST00000252575.6	+	12	3532	c.3433A>G	c.(3433-3435)Atc>Gtc	p.I1145V	NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1145	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AAACACGTGGATCGGCCTGAA	0.632																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3433-3435)Atc>Gtc		neurocan							146.0	104.0	119.0					19																	19351435		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19351435A>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3433A>G	19.37:g.19351435A>G	ENSP00000252575:p.Ile1145Val					NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	p.I1145V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		12	3476	+			1145			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3433A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	a	17.84	3.487349	0.63962	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.28255	1.62;1.62	3.98	2.93	0.34026	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.289221	0.19360	N	0.116172	T	0.41050	0.1142	M	0.86178	2.8	0.39059	D	0.960496	B	0.33171	0.4	B	0.39465	0.3	T	0.38929	-0.9638	10	0.56958	D	0.05	.	8.5633	0.33525	0.8046:0.1953:0.0:0.0	.	1145	O14594	NCAN_HUMAN	V	1159;1145;596	ENSP00000252575:I1145V;ENSP00000442202:I596V	ENSP00000252575:I1145V	I	+	1	0	NCAN	19212435	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	6.913000	0.75759	0.557000	0.29117	0.240000	0.17902	ATC		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		32	330	0	0	0	1	0	32	330				
USP17L2	377630	broad.mit.edu	37	8	11995994	11995994	+	Silent	SNP	G	G	A	rs369199590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995994G>A	ENST00000333796.3	-	1	592	c.276C>T	c.(274-276)aaC>aaT	p.N92N	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	92	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGGAAGCGTTCTCGTAGC	0.572																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(274-276)aaC>aaT		ubiquitin specific peptidase 17-like family member 2		G		0,2896		0,0,1448	35.0	43.0	40.0		276	-0.3	0.0	8		40	2,5828		1,0,2914	no	coding-synonymous	USP17L2	NM_201402.2		1,0,4362	AA,AG,GG		0.0343,0.0,0.0229		92/531	11995994	2,8724	1448	2915	4363	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995994G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.276C>T	8.37:g.11995994G>A						FAM66D_ENST00000434078.2_RNA	p.N92N	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	592	-			92						Silent	SNP	ENST00000333796.3	37	c.276C>T	CCDS43713.1																																																																																				0.572	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		37	693	0	0	0	1	0	37	693				
HMCES	56941	broad.mit.edu	37	3	128998687	128998687	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128998687T>C	ENST00000383463.4	+	2	201	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	HMCES_ENST00000417226.2_Missense_Mutation_p.Y38H|HMCES_ENST00000389735.3_Missense_Mutation_p.Y38H|HMCES_ENST00000502878.2_Missense_Mutation_p.Y38H	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	38							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CCCTGATAAGTACTGCCCCTC	0.552																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(112-114)Tac>Cac									98.0	87.0	91.0					3																	128998687		2203	4300	6503	SO:0001583	missense	0							g.chr3:128998687T>C	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.112T>C	3.37:g.128998687T>C	ENSP00000372955:p.Tyr38His					C3orf37_ENST00000389735.3_Missense_Mutation_p.Y38H|C3orf37_ENST00000502878.2_Missense_Mutation_p.Y38H|C3orf37_ENST00000417226.2_Missense_Mutation_p.Y38H	p.Y38H	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			2	201	+			38					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.112T>C	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938244	0.52972	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735;ENST00000509551;ENST00000511665	.	.	.	4.8	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77584	-0.2533	9	0.59425	D	0.04	-21.1368	8.5671	0.33547	0.0:0.0934:0.0:0.9066	.	38;38	E7EMP6;Q96FZ2	.;CC037_HUMAN	H	38	.	ENSP00000372955:Y38H	Y	+	1	0	C3orf37	130481377	1.000000	0.71417	0.086000	0.20670	0.028000	0.11728	5.333000	0.65917	0.674000	0.31244	0.533000	0.62120	TAC		0.552	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		48	217	0	0	0	1	0	48	217				
MYO7A	4647	broad.mit.edu	37	11	76891429	76891429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76891429C>T	ENST00000409709.3	+	22	2868	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	866					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTATCTGTGGCGCCTCGAGGC	0.587																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2596-2598)Cgc>Tgc		myosin VIIA							35.0	39.0	38.0					11																	76891429		2037	4176	6213	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76891429C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2596C>T	11.37:g.76891429C>T	ENSP00000386331:p.Arg866Cys					MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C	p.R866C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			22	2868	+			866					B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.2596C>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.932269	0.73442	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89050	-2.42;-2.46;-2.42;-2.43;-2.25	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;P;P	0.61800	0.871;0.871;0.894;0.871	D	0.89193	0.3552	10	0.39692	T	0.17	.	18.9552	0.92655	0.0:1.0:0.0:0.0	.	866;855;866;866	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	C	866;866;866;855;77;865;865;742;865;47	ENSP00000386331:R866C;ENSP00000386689:R866C;ENSP00000392185:R866C;ENSP00000386635:R855C;ENSP00000417017:R47C	ENSP00000345075:R742C	R	+	1	0	MYO7A	76569077	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	3.622000	0.54217	2.476000	0.83614	0.448000	0.29417	CGC		0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	100	0	0	0	1	0	5	100				
SEC31A	22872	broad.mit.edu	37	4	83742226	83742226	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83742226A>G	ENST00000395310.2	-	26	3629	c.3447T>C	c.(3445-3447)cgT>cgC	p.R1149R	SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000355196.2_Silent_p.R1149R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000348405.4_Silent_p.R1110R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000264405.5_Silent_p.R898R|SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000432794.1_Silent_p.R1162R|SEC31A_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000448323.1_Silent_p.R1149R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAACTCCAAACGTTTGCTGG	0.338																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3484-3486)cgT>cgC		SEC31 homolog A (S. cerevisiae)							203.0	213.0	209.0					4																	83742226		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83742226A>G	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3447T>C	4.37:g.83742226A>G						SEC31A_ENST00000395310.2_Silent_p.R1149R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000448323.1_Silent_p.R1149R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000355196.2_Silent_p.R1149R|SEC31A_ENST00000264405.5_Silent_p.R898R|SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000348405.4_Silent_p.R1110R	p.R1162R			O94979	SC31A_HUMAN			27	3649	-		Hepatocellular(203;0.114)	1149					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.3486T>C	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270299	0.23221	.	.	ENSG00000138674	ENST00000503937	.	.	.	5.62	-1.08	0.09936	.	.	.	.	.	T	0.65595	0.2706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-11.6076	13.9446	0.64077	0.1817:0.0:0.8183:0.0	.	.	.	.	A	312	.	.	V	-	2	0	SEC31A	83961250	0.993000	0.37304	0.995000	0.50966	0.983000	0.72400	0.290000	0.18975	-0.129000	0.11620	-0.250000	0.11733	GTT		0.338	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		126	719	0	0	0	1	0	126	719				
POU6F1	5463	broad.mit.edu	37	12	51585522	51585522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51585522C>T	ENST00000389243.4	-	10	1356	c.417G>A	c.(415-417)gaG>gaA	p.E139E	POU6F1_ENST00000333640.10_Silent_p.E139E|POU6F1_ENST00000550824.1_Silent_p.E139E			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	139	Gln/Pro-rich.|POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCATCCTCATCCAGAC	0.542																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(415-417)gaG>gaA		POU class 6 homeobox 1							108.0	107.0	107.0					12																	51585522		2203	4300	6503	SO:0001819	synonymous_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51585522C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.417G>A	12.37:g.51585522C>T						POU6F1_ENST00000550824.1_Silent_p.E139E|POU6F1_ENST00000333640.10_Silent_p.E139E	p.E139E			Q14863	PO6F1_HUMAN			10	1356	-			139			Gln/Pro-rich.|POU-specific.		Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.417G>A	CCDS31803.1																																																																																				0.542	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		129	549	0	0	0	1	0	129	549				
EGFL7	51162	broad.mit.edu	37	9	139564693	139564693	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139564693G>A	ENST00000371699.1	+	7	1393	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	161	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGTTACTGGTGCCAGTGTTGG	0.657																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(481-483)tGc>tAc		EGF-like-domain, multiple 7							31.0	33.0	32.0					9																	139564693		2202	4295	6497	SO:0001583	missense	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139564693G>A	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.482G>A	9.37:g.139564693G>A	ENSP00000360764:p.Cys161Tyr					EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000492002.1_3'UTR	p.C161Y			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	7	1393	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	161			EGF-like 2; calcium-binding (Potential).		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	37	c.482G>A	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400622	0.83120	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54	5.26	5.26	0.73747	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96994	0.9724	10	0.87932	D	0	-25.823	17.8471	0.88733	0.0:0.0:1.0:0.0	.	161	Q9UHF1	EGFL7_HUMAN	Y	161	ENSP00000360764:C161Y;ENSP00000307843:C161Y;ENSP00000385639:C161Y;ENSP00000360763:C161Y	ENSP00000307843:C161Y	C	+	2	0	EGFL7	138684514	1.000000	0.71417	0.972000	0.41901	0.686000	0.39977	7.784000	0.85713	2.453000	0.82957	0.561000	0.74099	TGC		0.657	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		49	204	0	0	0	1	0	49	204				
TECR	9524	broad.mit.edu	37	19	14676647	14676647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676647G>A	ENST00000215567.5	+	13	1028	c.891G>A	c.(889-891)ccG>ccA	p.P297P	TECR_ENST00000436007.2_Silent_p.P312P|TECR_ENST00000596073.1_Silent_p.P142P|TECR_ENST00000600083.1_Silent_p.P142P	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	297					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						GGGACTACCCGCCCCTGCGCA	0.657																																						ENST00000600083.1																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(424-426)ccG>ccA		trans-2,3-enoyl-CoA reductase							12.0	12.0	12.0					19																	14676647		2191	4258	6449	SO:0001819	synonymous_variant	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14676647G>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.891G>A	19.37:g.14676647G>A						TECR_ENST00000215567.5_Silent_p.P297P|TECR_ENST00000596073.1_Silent_p.P142P|TECR_ENST00000436007.2_Silent_p.P312P	p.P142P			Q9NZ01	TECR_HUMAN			13	1059	+			297					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Silent	SNP	ENST00000215567.5	37	c.426G>A	CCDS12313.1																																																																																				0.657	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		7	80	0	0	0	1	0	7	80				
KIAA1143	57456	broad.mit.edu	37	3	44803019	44803019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44803019C>T	ENST00000296121.4	-	1	135	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	KIF15_ENST00000326047.4_5'Flank|KIAA1143_ENST00000484437.1_5'Flank	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	26										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCCCTGTAGCCGACCCGTTCC	0.592																																						ENST00000296121.4																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5						c.(76-78)Ggc>Agc		KIAA1143							32.0	38.0	36.0					3																	44803019		2203	4300	6503	SO:0001583	missense	57456							g.chr3:44803019C>T	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.76G>A	3.37:g.44803019C>T	ENSP00000296121:p.Gly26Ser						p.G26S	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)	1	135	-			26					A8K0I4|Q96HJ8|Q9ULS7	Missense_Mutation	SNP	ENST00000296121.4	37	c.76G>A	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828275	0.96996	.	.	ENSG00000163807	ENST00000296121	T	0.56444	0.46	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78555	-0.2159	9	.	.	.	-14.2314	18.8395	0.92177	0.0:1.0:0.0:0.0	.	26	Q96AT1	K1143_HUMAN	S	26	ENSP00000296121:G26S	.	G	-	1	0	KIAA1143	44778023	1.000000	0.71417	0.982000	0.44146	0.922000	0.55478	5.590000	0.67530	2.762000	0.94881	0.655000	0.94253	GGC		0.592	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		52	210	0	0	0	1	0	52	210				
MSH6	2956	broad.mit.edu	37	2	48026622	48026622	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48026622A>C	ENST00000234420.5	+	4	1652	c.1500A>C	c.(1498-1500)gcA>gcC	p.A500A	MSH6_ENST00000538136.1_Silent_p.A198A|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	500					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAAGATGGCACATATATCCA	0.473			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1498-1500)gcA>gcC	Mismatch excision repair (MMR)	mutS homolog 6							93.0	86.0	88.0					2																	48026622		2203	4300	6503	SO:0001819	synonymous_variant	2956	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	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026622A>C	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1500A>C	2.37:g.48026622A>C						FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A|MSH6_ENST00000538136.1_Silent_p.A198A	p.A500A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1652	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	500					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.1500A>C	CCDS1836.1																																																																																				0.473	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		57	197	0	0	0	1	0	57	197				
ASNSD1	54529	broad.mit.edu	37	2	190531602	190531602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190531602G>A	ENST00000260952.4	+	4	1157	c.744G>A	c.(742-744)ttG>ttA	p.L248L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	248					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ATATGATGTTGCCACAAGCTG	0.383																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(742-744)ttG>ttA		asparagine synthetase domain containing 1							86.0	91.0	90.0					2																	190531602		2202	4298	6500	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531602G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.744G>A	2.37:g.190531602G>A						ASNSD1_ENST00000607062.1_Intron	p.L248L	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1157	+			248					D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.744G>A	CCDS2300.1																																																																																				0.383	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		102	509	0	0	0	1	0	102	509				
PLSCR2	57047	broad.mit.edu	37	3	146173186	146173186	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:146173186A>G	ENST00000497985.1	-	6	819	c.380T>C	c.(379-381)aTt>aCt	p.I127T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	127					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGCAAAATAAATCCTCTGCCC	0.353																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(379-381)aTt>aCt		phospholipid scramblase 2							101.0	106.0	104.0					3																	146173186		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173186A>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.380T>C	3.37:g.146173186A>G	ENSP00000420132:p.Ile127Thr					PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	p.I127T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			6	819	-			54					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.380T>C	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117965	0.77323	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.25912	1.77;1.77;1.77	3.1	3.1	0.35709	.	0.167404	0.24012	U	0.042371	T	0.46964	0.1420	M	0.85462	2.755	0.25922	N	0.983107	P;P	0.46578	0.88;0.772	P;B	0.54544	0.755;0.345	T	0.43228	-0.9404	10	0.87932	D	0	.	12.3575	0.55184	1.0:0.0:0.0:0.0	.	147;54	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	54;146;127;54	ENSP00000338707:I54T;ENSP00000420132:I127T;ENSP00000418444:I54T	ENSP00000338707:I54T	I	-	2	0	PLSCR2	147655876	0.945000	0.32115	0.003000	0.11579	0.862000	0.49288	8.654000	0.91092	1.653000	0.50694	0.455000	0.32223	ATT		0.353	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		89	407	0	0	0	1	0	89	407				
AKAP2	11217	broad.mit.edu	37	9	112898709	112898709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112898709C>A	ENST00000259318.7	+	2	399	c.192C>A	c.(190-192)tgC>tgA	p.C64*	AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.C295*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	64										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGGCCAACTGCTGTGATTCTG	0.562																																						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.(883-885)tgC>tgA									157.0	125.0	136.0					9																	112898709		2203	4300	6503	SO:0001587	stop_gained	0						enzyme binding	g.chr9:112898709C>A	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.192C>A	9.37:g.112898709C>A	ENSP00000259318:p.Cys64*					AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|AKAP2_ENST00000259318.7_Nonsense_Mutation_p.C64*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*	p.C295*	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1065	+			64					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Nonsense_Mutation	SNP	ENST00000259318.7	37	c.885C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	37	6.090318	0.97271	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	.	.	.	6.17	4.33	0.51752	.	0.149906	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.09	9.7747	0.40612	0.0:0.7342:0.0:0.2658	.	.	.	.	X	295;295;295;295;153;153;113;64	.	ENSP00000259318:C64X	C	+	3	2	PALM2-AKAP2;AKAP2	111938530	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.780000	0.26760	1.633000	0.50488	0.655000	0.94253	TGC		0.562	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		89	470	1	0	3.1376e-36	1	3.75457e-36	89	470				
PAICS	10606	broad.mit.edu	37	4	57325540	57325540	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325540C>A	ENST00000512576.1	+	9	1275	c.1114C>A	c.(1114-1116)Ctt>Att	p.L372I	PAICS_ENST00000264221.2_Missense_Mutation_p.L372I|PAICS_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000514888.1_Missense_Mutation_p.L280I	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	372	AIR carboxylase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ACCAATAGGTCTTGGCTGTTC	0.403																																					GBM(53;429 1144 8755 40726)	ENST00000514888.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5						c.(838-840)Ctt>Att		phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	L-Aspartic Acid(DB00128)						74.0	64.0	67.0					4																	57325540		1858	4096	5954	SO:0001583	missense	10606				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity	g.chr4:57325540C>A	X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.1114C>A	4.37:g.57325540C>A	ENSP00000421096:p.Leu372Ile					PAICS_ENST00000512576.1_Missense_Mutation_p.L372I|PAICS_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000264221.2_Missense_Mutation_p.L372I	p.L280I			P22234	PUR6_HUMAN			10	1353	+	Glioma(25;0.08)|all_neural(26;0.101)		372			AIR carboxylase.		E9PDH9|Q68CQ5	Missense_Mutation	SNP	ENST00000512576.1	37	c.838C>A	CCDS47061.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742328	0.49151	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.38401	1.15;1.15;1.14;1.15;1.15	5.05	2.22	0.28083	Phosphoribosylaminoimidazole carboxylase, core (4);	0.194207	0.46145	N	0.000319	T	0.25606	0.0623	N	0.17838	0.53	0.51482	D	0.999922	B;B;B	0.26445	0.149;0.002;0.149	B;B;B	0.33960	0.173;0.009;0.173	T	0.05257	-1.0896	10	0.38643	T	0.18	-5.3966	10.9869	0.47526	0.1347:0.5904:0.2749:0.0	.	372;379;372	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	I	280;372;372;379;372	ENSP00000424907:L280I;ENSP00000264221:L372I;ENSP00000424053:L372I;ENSP00000382595:L379I;ENSP00000421096:L372I	ENSP00000264221:L372I	L	+	1	0	PAICS	57020297	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.515000	0.53429	0.191000	0.20236	0.585000	0.79938	CTT		0.403	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	NM_006452		19	107	1	0	8.28177e-16	1	9.06825e-16	19	107				
SH3RF1	57630	broad.mit.edu	37	4	170043380	170043380	+	Missense_Mutation	SNP	G	G	A	rs181812660		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170043380G>A	ENST00000284637.9	-	7	1558	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	406					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GACAGTGGCAGCCAGGAGAGG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		17901	0.0		0.001	False		,,,				2504	0.0					ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1216-1218)gCt>gTt		SH3 domain containing ring finger 1							38.0	34.0	35.0					4																	170043380		2203	4299	6502	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043380G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1217C>T	4.37:g.170043380G>A	ENSP00000284637:p.Ala406Val					SH3RF1_ENST00000508685.1_5'UTR	p.A406V	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	7	1558	-		Prostate(90;0.00267)|Renal(120;0.0183)	406					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1217C>T	CCDS34099.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.81	3.481472	0.63849	.	.	ENSG00000154447	ENST00000284637	T	0.13196	2.61	5.39	4.55	0.56014	.	0.327832	0.36167	N	0.002745	T	0.13072	0.0317	L	0.36672	1.1	0.40992	D	0.984865	B	0.10296	0.003	B	0.10450	0.005	T	0.04565	-1.0942	10	0.30078	T	0.28	-9.2068	15.6616	0.77190	0.0:0.0:0.862:0.138	.	406	Q7Z6J0	SH3R1_HUMAN	V	406	ENSP00000284637:A406V	ENSP00000284637:A406V	A	-	2	0	SH3RF1	170279955	1.000000	0.71417	0.979000	0.43373	0.975000	0.68041	3.950000	0.56676	1.250000	0.43966	0.585000	0.79938	GCT		0.527	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		6	121	0	0	0	1	0	6	121				
ASCC2	84164	broad.mit.edu	37	22	30212055	30212055	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30212055G>T	ENST00000397771.2	-	7	726	c.549C>A	c.(547-549)atC>atA	p.I183I	ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000542393.1_Silent_p.I107I|ASCC2_ENST00000307790.3_Silent_p.I183I			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCTGTGTAAAGATGTTTCCTA	0.512																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(547-549)atC>atA		activating signal cointegrator 1 complex subunit 2							112.0	98.0	103.0					22																	30212055		2203	4299	6502	SO:0001819	synonymous_variant	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30212055G>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.549C>A	22.37:g.30212055G>T						ASCC2_ENST00000542393.1_Silent_p.I107I|ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Silent_p.I183I	p.I183I			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		7	726	-			183					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	ENST00000397771.2	37	c.549C>A	CCDS13869.1																																																																																				0.512	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		9	43	1	0	1.12685e-05	1	1.15515e-05	9	43				
RAP2B	5912	broad.mit.edu	37	3	152880895	152880895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152880895G>T	ENST00000323534.2	+	1	867	c.413G>T	c.(412-414)tGg>tTg	p.W138L	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	138					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGAGGAGTGGAGCTGCCCC	0.632																																						ENST00000323534.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(412-414)tGg>tTg		RAP2B, member of RAS oncogene family							55.0	43.0	47.0					3																	152880895		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880895G>T		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.413G>T	3.37:g.152880895G>T	ENSP00000319096:p.Trp138Leu						p.W138L	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	867	+			138					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.413G>T	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359132	0.82353	.	.	ENSG00000181467	ENST00000323534	T	0.76839	-1.05	4.43	4.43	0.53597	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.80215	0.4582	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77338	-0.2625	10	0.24483	T	0.36	.	15.7938	0.78394	0.0:0.0:1.0:0.0	.	138	P61225	RAP2B_HUMAN	L	138	ENSP00000319096:W138L	ENSP00000319096:W138L	W	+	2	0	RAP2B	154363585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.294000	0.77228	0.563000	0.77884	TGG		0.632	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		34	157	1	0	8.4185e-14	1	9.11178e-14	34	157				
OR52N5	390075	broad.mit.edu	37	11	5799527	5799527	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799527A>G	ENST00000317093.2	-	1	370	c.338T>C	c.(337-339)gTt>gCt	p.V113A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAACCCATGAACAAAGAACAT	0.493																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(337-339)gTt>gCt		olfactory receptor, family 52, subfamily N, member 5							94.0	86.0	89.0					11																	5799527		2122	4087	6209	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799527A>G	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.338T>C	11.37:g.5799527A>G	ENSP00000322866:p.Val113Ala					TRIM5_ENST00000380027.1_Intron	p.V113A	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	370	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	113					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.338T>C	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270074	0.40194	.	.	ENSG00000181009	ENST00000317093	T	0.03181	4.02	3.7	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28431	U	0.015374	T	0.09158	0.0226	M	0.63208	1.945	0.23677	N	0.997139	D	0.54964	0.969	P	0.54856	0.762	T	0.06232	-1.0838	10	0.87932	D	0	.	7.7915	0.29123	0.8961:0.0:0.1038:0.0	.	113	Q8NH56	O52N5_HUMAN	A	113	ENSP00000322866:V113A	ENSP00000322866:V113A	V	-	2	0	OR52N5	5756103	0.008000	0.16893	0.989000	0.46669	0.910000	0.53928	2.530000	0.45641	0.607000	0.29982	0.405000	0.27470	GTT		0.493	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		76	313	0	0	0	1	0	76	313				
OR8D2	283160	broad.mit.edu	37	11	124189745	124189745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124189745C>A	ENST00000357438.2	-	1	439	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATTCCATGGCTGTCAGAAGG	0.408																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(349-351)Gcc>Tcc		olfactory receptor, family 8, subfamily D, member 2							81.0	77.0	79.0					11																	124189745		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189745C>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.349G>T	11.37:g.124189745C>A	ENSP00000350022:p.Ala117Ser						p.A117S	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	439	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	117					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.349G>T	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	2.879	-0.232208	0.05983	.	.	ENSG00000197263	ENST00000357438	T	0.03065	4.06	3.6	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.140010	0.32416	N	0.006128	T	0.03095	0.0091	L	0.51422	1.61	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.36016	-0.9765	10	0.06236	T	0.91	.	6.9376	0.24474	0.0:0.7022:0.0:0.2978	.	117	Q9GZM6	OR8D2_HUMAN	S	117	ENSP00000350022:A117S	ENSP00000350022:A117S	A	-	1	0	OR8D2	123694955	0.000000	0.05858	0.068000	0.19968	0.204000	0.24138	0.169000	0.16641	1.117000	0.41842	0.420000	0.28162	GCC		0.408	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		53	198	1	0	6.34439e-16	1	6.95021e-16	53	198				
KNDC1	85442	broad.mit.edu	37	10	135025297	135025297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135025297G>A	ENST00000304613.3	+	23	4192	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1391					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGGAGGCCGAGGAGGATGC	0.672																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4171-4173)Gag>Aag		kinase non-catalytic C-lobe domain (KIND) containing 1																																				SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135025297G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4171G>A	10.37:g.135025297G>A	ENSP00000304437:p.Glu1391Lys					KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K	p.E1391K			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	23	4192	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1391					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4171G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	8.388	0.839178	0.16891	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.16897	2.31;2.31	3.13	3.13	0.36017	Ras guanine nucleotide exchange factor, domain (1);	0.139666	0.46758	U	0.000269	T	0.08802	0.0218	L	0.27053	0.805	0.23747	N	0.996956	P	0.40107	0.703	B	0.30251	0.113	T	0.28713	-1.0035	10	0.19590	T	0.45	-27.3434	10.4476	0.44503	0.0:0.0:1.0:0.0	.	1391	Q76NI1	VKIND_HUMAN	K	1391;1393	ENSP00000304437:E1391K;ENSP00000357561:E1393K	ENSP00000304437:E1391K	E	+	1	0	KNDC1	134875287	0.997000	0.39634	0.436000	0.26797	0.085000	0.17905	3.034000	0.49751	1.713000	0.51359	0.282000	0.19409	GAG		0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		38	153	0	0	0	1	0	38	153				
DIRAS2	54769	broad.mit.edu	37	9	93375869	93375869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375869C>T	ENST00000375765.3	-	2	629	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	81					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AGGATGAAGGCGTGCCCTTTG	0.562																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(241-243)Gcc>Acc		DIRAS family, GTP-binding RAS-like 2							140.0	118.0	126.0					9																	93375869		2203	4300	6503	SO:0001583	missense	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375869C>T	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.241G>A	9.37:g.93375869C>T	ENSP00000364919:p.Ala81Thr						p.A81T	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	629	-			81					B3KVM2	Missense_Mutation	SNP	ENST00000375765.3	37	c.241G>A	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386281	0.95967	.	.	ENSG00000165023	ENST00000375765	T	0.78246	-1.16	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.90788	0.4684	10	0.87932	D	0	.	17.9796	0.89137	0.0:1.0:0.0:0.0	.	81	Q96HU8	DIRA2_HUMAN	T	81	ENSP00000364919:A81T	ENSP00000364919:A81T	A	-	1	0	DIRAS2	92415689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.473000	0.81007	2.808000	0.96608	0.655000	0.94253	GCC		0.562	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			59	653	0	0	0	1	0	59	653				
TAP2	6891	broad.mit.edu	37	6	32800500	32800500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800500C>T	ENST00000452392.2	-	6	1220	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	TAP2_ENST00000374897.2_Silent_p.E349E|TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000485701.1_5'UTR			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AGACTTCATGCTCCTCGGCCC	0.597																																						ENST00000374897.2																			0											c.(1045-1047)gaG>gaA		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							118.0	104.0	109.0					6																	32800500		1511	2709	4220	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32800500C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1047G>A	6.37:g.32800500C>T						TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000452392.2_Silent_p.E349E|TAP2_ENST00000485701.1_5'UTR	p.E349E	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			6	1178	-			349			ABC transmembrane type-1.|Involved in peptide-binding site.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37	c.1047G>A																																																																																					0.597	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		112	424	0	0	0	1	0	112	424				
RABGAP1	23637	broad.mit.edu	37	9	125863974	125863974	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125863974C>A	ENST00000373647.4	+	25	3153	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1007					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAAGAACCAGCTGAGAGAAAT	0.488																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(3019-3021)Ctg>Atg		RAB GTPase activating protein 1							77.0	76.0	76.0					9																	125863974		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125863974C>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.3019C>A	9.37:g.125863974C>A	ENSP00000362751:p.Leu1007Met					RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	p.L1007M	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			25	3153	+			1007					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.3019C>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946014	0.73672	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.17528	3.2;2.27	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	T	0.23766	0.0575	L	0.51422	1.61	0.80722	D	1	P	0.42357	0.777	B	0.42555	0.391	T	0.00529	-1.1687	10	0.51188	T	0.08	-14.6153	19.5755	0.95441	0.0:1.0:0.0:0.0	.	1007	Q9Y3P9	RBGP1_HUMAN	M	1007;346	ENSP00000362751:L1007M;ENSP00000362747:L346M	ENSP00000362747:L346M	L	+	1	2	RABGAP1	124903795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.964000	0.56780	2.865000	0.98341	0.655000	0.94253	CTG		0.488	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		35	165	1	0	1.30998e-17	1	1.44773e-17	35	165				
MED23	9439	broad.mit.edu	37	6	131931290	131931290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131931290C>A	ENST00000368068.3	-	11	1152	c.973G>T	c.(973-975)Gga>Tga	p.G325*	MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*|MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000403834.3_Nonsense_Mutation_p.G331*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	325					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGGCTTGTTCCCCCATCGTCA	0.498																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(991-993)Gga>Tga		mediator complex subunit 23							124.0	118.0	120.0					6																	131931290		2203	4300	6503	SO:0001587	stop_gained	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131931290C>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.973G>T	6.37:g.131931290C>A	ENSP00000357047:p.Gly325*					MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*|MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000368068.3_Nonsense_Mutation_p.G325*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*	p.G331*			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	11	1164	-	Breast(56;0.0753)		325					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	ENST00000368068.3	37	c.991G>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420626	0.96111	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.4066	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	331;325;331;325;331;14;331;331;325	.	ENSP00000346588:G331X	G	-	1	0	MED23	131972983	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.730000	0.93505	0.591000	0.81541	GGA		0.498	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			65	344	1	0	9.39563e-20	1	1.04965e-19	65	344				
SMARCA4	6597	broad.mit.edu	37	19	11105645	11105645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11105645C>T	ENST00000429416.3	+	10	1842	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	521	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAGAACGAGCGGATCGAGAA	0.567			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1561-1563)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							142.0	111.0	121.0					19																	11105645		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11105645C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1561C>T	19.37:g.11105645C>T	ENSP00000395654:p.Arg521Trp					SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W	p.R521W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			9	1845	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	521			HSA.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1561C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680126	0.47886	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.46	-0.935	0.10423	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.91612	3.225	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.994;0.987;0.999;0.999	T	0.79140	-0.1926	10	0.87932	D	0	-32.9408	15.4281	0.75069	0.8024:0.1976:0.0:0.0	.	521;521;521;521;521;521;521	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	W	521	ENSP00000395654:R521W;ENSP00000350720:R521W;ENSP00000343896:R521W;ENSP00000445036:R521W;ENSP00000392837:R521W;ENSP00000397783:R521W;ENSP00000414727:R521W	ENSP00000343896:R521W	R	+	1	2	SMARCA4	10966645	0.953000	0.32496	0.003000	0.11579	0.487000	0.33371	0.223000	0.17719	-0.191000	0.10448	-0.309000	0.09137	CGG		0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		23	99	0	0	0	1	0	23	99				
TMEM64	169200	broad.mit.edu	37	8	91637980	91637980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91637980G>A	ENST00000458549.2	-	3	1239	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TMEM64_ENST00000418210.2_Silent_p.G302G|TMEM64_ENST00000519519.1_Silent_p.G93G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	354					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TTGGTTGATTGCCTTTAACCA	0.388																																						ENST00000458549.2																			0				endometrium(1)|large_intestine(1)	2						c.(1060-1062)ggC>ggT		transmembrane protein 64							115.0	103.0	107.0					8																	91637980		2203	4300	6503	SO:0001819	synonymous_variant	169200					integral to membrane		g.chr8:91637980G>A	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.1062C>T	8.37:g.91637980G>A						TMEM64_ENST00000519519.1_Silent_p.G93G|TMEM64_ENST00000418210.2_Silent_p.G302G	p.G354G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		3	1239	-			354					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Silent	SNP	ENST00000458549.2	37	c.1062C>T	CCDS34920.2																																																																																				0.388	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		43	198	0	0	0	1	0	43	198				
MYO19	80179	broad.mit.edu	37	17	34859841	34859841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34859841G>A	ENST00000431794.3	-	20	2447	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	MYO19_ENST00000268852.9_Missense_Mutation_p.A442V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	642	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGGCCACAGGCCTCCAGCTG	0.632																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1924-1926)gCc>gTc		myosin XIX							18.0	21.0	20.0					17																	34859841		2049	4180	6229	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34859841G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1925C>T	17.37:g.34859841G>A	ENSP00000409936:p.Ala642Val					MYO19_ENST00000268852.9_Missense_Mutation_p.A442V	p.A642V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	20	2447	-		Breast(25;0.00957)|Ovarian(249;0.17)	642			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1925C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427773	0.96131	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.95307	-2.29;-3.67	5.48	5.48	0.80851	Myosin head, motor domain (2);	.	.	.	.	D	0.97498	0.9181	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98029	1.0375	9	0.72032	D	0.01	.	17.8969	0.88891	0.0:0.0:1.0:0.0	.	642;442	Q96H55;Q96H55-4	MYO19_HUMAN;.	V	642;442	ENSP00000409936:A642V;ENSP00000268852:A442V	ENSP00000268852:A442V	A	-	2	0	MYO19	31933954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.863000	0.92288	2.576000	0.86940	0.563000	0.77884	GCC		0.632	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		6	28	0	0	0	1	0	6	28				
MEI1	150365	broad.mit.edu	37	22	42154490	42154490	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42154490G>A	ENST00000401548.3	+	18	2113	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	MEI1_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000540880.1_Silent_p.Q9Q|MEI1_ENST00000400107.1_Silent_p.Q59Q|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCAGAGACAGTACTGCATCC	0.577																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2071-2073)caG>caA		meiosis inhibitor 1							55.0	57.0	56.0					22																	42154490		2049	4190	6239	SO:0001819	synonymous_variant	150365						binding	g.chr22:42154490G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2073G>A	22.37:g.42154490G>A						MEI1_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000400107.1_Silent_p.Q59Q|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Silent_p.Q9Q	p.Q691Q	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			18	2113	+			691						Silent	SNP	ENST00000401548.3	37	c.2073G>A	CCDS46718.1																																																																																				0.577	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		21	118	0	0	0	1	0	21	118				
C3orf38	285237	broad.mit.edu	37	3	88205397	88205397	+	Missense_Mutation	SNP	G	G	A	rs373620957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205397G>A	ENST00000318887.3	+	3	912	c.602G>A	c.(601-603)cGt>cAt	p.R201H	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	201					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTGAGCCTTCGTTTGCTGTCA	0.423																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(601-603)cGt>cAt		chromosome 3 open reading frame 38		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	118.0	120.0		602	5.5	1.0	3		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf38	NM_173824.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	201/330	88205397	2,13004	2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88205397G>A	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.602G>A	3.37:g.88205397G>A	ENSP00000322469:p.Arg201His					C3orf38_ENST00000486971.1_3'UTR	p.R201H	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	912	+		Lung NSC(201;0.17)	201					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.602G>A	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342840	0.61073	2.27E-4	1.16E-4	ENSG00000179021	ENST00000318887	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.55743	1.74	0.80722	D	1	B	0.34349	0.45	B	0.28465	0.09	T	0.63712	-0.6575	9	0.87932	D	0	-15.7301	18.7992	0.92008	0.0:0.0:1.0:0.0	.	201	Q5JPI3	CC038_HUMAN	H	201	.	ENSP00000322469:R201H	R	+	2	0	C3orf38	88288087	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.873000	0.92357	2.751000	0.94390	0.557000	0.71058	CGT		0.423	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		120	506	0	0	0	1	0	120	506				
WAC	51322	broad.mit.edu	37	10	28897207	28897207	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28897207A>G	ENST00000354911.4	+	8	1173	c.1012A>G	c.(1012-1014)Aca>Gca	p.T338A	WAC_ENST00000375664.4_Missense_Mutation_p.T293A|WAC_ENST00000428935.1_Missense_Mutation_p.T293A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000347934.4_Missense_Mutation_p.T235A	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	338					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGCACCTCCAACATCTGCTTC	0.478																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(877-879)Aca>Gca		WW domain containing adaptor with coiled-coil							136.0	121.0	126.0					10																	28897207		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28897207A>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1012A>G	10.37:g.28897207A>G	ENSP00000346986:p.Thr338Ala					WAC_ENST00000428935.1_Missense_Mutation_p.T293A|WAC_ENST00000347934.4_Missense_Mutation_p.T235A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000354911.4_Missense_Mutation_p.T338A	p.T293A			Q9BTA9	WAC_HUMAN			8	1486	+			338					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.877A>G	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829402	0.32329	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000	T;T;T;T;T	0.33654	1.94;1.97;2.01;1.94;1.4	5.38	1.27	0.21489	.	0.539484	0.22346	N	0.061262	T	0.11537	0.0281	N	0.03608	-0.345	0.36342	D	0.859534	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15723	-1.0427	10	0.09338	T	0.73	-5.1968	3.9112	0.09204	0.5186:0.0:0.1898:0.2916	.	293;235;338	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	A	293;190;235;338;293;293;293	ENSP00000364816:T293A;ENSP00000364797:T190A;ENSP00000311106:T235A;ENSP00000346986:T338A;ENSP00000399706:T293A	ENSP00000311106:T235A	T	+	1	0	WAC	28937213	0.998000	0.40836	0.996000	0.52242	0.979000	0.70002	3.518000	0.53451	0.369000	0.24510	0.482000	0.46254	ACA		0.478	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		50	414	0	0	0	1	0	50	414				
RING1	6015	broad.mit.edu	37	6	33179615	33179615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179615C>T	ENST00000374656.4	+	6	1163	c.955C>T	c.(955-957)Cct>Tct	p.P319S	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	319	Gly-rich.|Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCAGGAGGGCCTGGAGGGGG	0.672																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(955-957)Cct>Tct		ring finger protein 1							39.0	42.0	41.0					6																	33179615		2203	4298	6501	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179615C>T		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.955C>T	6.37:g.33179615C>T	ENSP00000363787:p.Pro319Ser					RING1_ENST00000478431.1_3'UTR	p.P319S	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			6	1163	+			319			Gly-rich.|Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.955C>T	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465674	0.43839	.	.	ENSG00000204227	ENST00000374656	D	0.83163	-1.69	4.19	3.32	0.38043	.	0.365598	0.20926	N	0.083198	T	0.41926	0.1180	N	0.08118	0	0.30485	N	0.771968	B	0.18310	0.027	B	0.17098	0.017	T	0.15636	-1.0430	10	0.14252	T	0.57	-6.4677	7.6128	0.28139	0.0:0.8838:0.0:0.1162	.	319	Q06587	RING1_HUMAN	S	319	ENSP00000363787:P319S	ENSP00000363787:P319S	P	+	1	0	RING1	33287593	0.995000	0.38212	1.000000	0.80357	0.891000	0.51852	2.150000	0.42254	0.958000	0.37956	0.448000	0.29417	CCT		0.672	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			54	281	0	0	0	1	0	54	281				
HOXB7	3217	broad.mit.edu	37	17	46685370	46685370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46685370G>A	ENST00000239165.7	-	2	586	c.488C>T	c.(487-489)aCg>aTg	p.T163M	HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB7_ENST00000567101.2_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	163					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CCGCCGCCGCGTCAGGTAGCG	0.557																																						ENST00000239165.7																			0				NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						c.(487-489)aCg>aTg		homeobox B7							96.0	97.0	97.0					17																	46685370		2203	4300	6503	SO:0001583	missense	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46685370G>A		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.488C>T	17.37:g.46685370G>A	ENSP00000239165:p.Thr163Met					HOXB7_ENST00000567101.1_5'UTR	p.T163M	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN			2	586	-			163					A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	ENST00000239165.7	37	c.488C>T	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837247	0.71373	.	.	ENSG00000120087	ENST00000239165	D	0.96265	-3.96	4.58	4.58	0.56647	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.065525	0.64402	D	0.000017	D	0.97914	0.9314	H	0.94503	3.545	0.80722	D	1	D	0.58268	0.982	P	0.50659	0.647	D	0.99494	1.0951	10	0.87932	D	0	.	17.1969	0.86895	0.0:0.0:1.0:0.0	.	163	P09629	HXB7_HUMAN	M	163	ENSP00000239165:T163M	ENSP00000239165:T163M	T	-	2	0	HOXB7	44040369	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	7.795000	0.85887	2.357000	0.79964	0.563000	0.77884	ACG		0.557	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			67	813	0	0	0	1	0	67	813				
FZD8	8325	broad.mit.edu	37	10	35929026	35929026	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929026G>A	ENST00000374694.1	-	1	1336	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	444					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CAAGCCACGCGGCCAGGTGGA	0.657																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(1330-1332)gcC>gcT		frizzled family receptor 8							32.0	31.0	31.0					10																	35929026		2202	4300	6502	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929026G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1332C>T	10.37:g.35929026G>A							p.A444A	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	1336	-			444						Silent	SNP	ENST00000374694.1	37	c.1332C>T	CCDS7192.1																																																																																				0.657	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		7	141	0	0	0	1	0	7	141				
DOCK6	57572	broad.mit.edu	37	19	11326479	11326479	+	Missense_Mutation	SNP	C	C	T	rs558654486	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11326479C>T	ENST00000294618.7	-	31	4030	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1340					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTCTTACCACGACTTCGCCG	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17186	0.0		0.0	False		,,,				2504	0.0					ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4018-4020)cGt>cAt		dedicator of cytokinesis 6							111.0	109.0	109.0					19																	11326479		1997	4168	6165	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11326479C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4019G>A	19.37:g.11326479C>T	ENSP00000294618:p.Arg1340His					DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H|CTC-510F12.2_ENST00000588634.1_RNA	p.R1340H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			31	4030	-			1340					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4019G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012642	0.93346	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.02863	4.13;4.13	5.29	4.23	0.50019	.	0.068952	0.56097	D	0.000035	T	0.11922	0.0290	M	0.72118	2.19	0.53005	D	0.999962	D;P	0.60160	0.987;0.951	P;P	0.61722	0.893;0.677	T	0.00832	-1.1548	10	0.66056	D	0.02	-15.8247	14.0834	0.64939	0.1521:0.8479:0.0:0.0	.	679;1340	C9IZV6;Q96HP0	.;DOCK6_HUMAN	H	1340;679	ENSP00000294618:R1340H;ENSP00000321556:R679H	ENSP00000294618:R1340H	R	-	2	0	DOCK6	11187479	1.000000	0.71417	0.680000	0.29994	0.821000	0.46438	7.524000	0.81866	1.416000	0.47057	0.591000	0.81541	CGT		0.542	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		53	313	0	0	0	1	0	53	313				
JUNB	3726	broad.mit.edu	37	19	12903500	12903500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12903500C>T	ENST00000302754.4	+	1	1191	c.915C>T	c.(913-915)gcC>gcT	p.A305A		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	305	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGCTCAAGGCCGAGAACGCGG	0.677																																						ENST00000302754.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(913-915)gcC>gcT		jun B proto-oncogene							20.0	21.0	21.0					19																	12903500		2196	4294	6490	SO:0001819	synonymous_variant	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903500C>T	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.915C>T	19.37:g.12903500C>T							p.A305A	NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN			1	1191	+			305			Leucine-zipper.		Q96GH3	Silent	SNP	ENST00000302754.4	37	c.915C>T	CCDS12280.1																																																																																				0.677	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		4	34	0	0	0	1	0	4	34				
GAB4	128954	broad.mit.edu	37	22	17488858	17488858	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17488858C>T	ENST00000400588.1	-	1	254	c.147G>A	c.(145-147)tcG>tcA	p.S49S	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	49	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCGGGGGGCGACTTCCTCA	0.687																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(145-147)tcG>tcA		GRB2-associated binding protein family, member 4							16.0	21.0	19.0					22																	17488858		2097	4237	6334	SO:0001819	synonymous_variant	128954							g.chr22:17488858C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.147G>A	22.37:g.17488858C>T						GAB4_ENST00000523144.1_5'UTR	p.S49S	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			1	254	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	49			PH.			Silent	SNP	ENST00000400588.1	37	c.147G>A	CCDS42976.1																																																																																				0.687	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		24	103	0	0	0	1	0	24	103				
ARHGAP25	9938	broad.mit.edu	37	2	69046363	69046363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69046363C>T	ENST00000295381.3	+	9	1528	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	370					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(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAAAATGACCCCAAGAAAGCT	0.512																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1108-1110)cCc>cTc		Rho GTPase activating protein 25							106.0	114.0	111.0					2																	69046363		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046363C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1109C>T	2.37:g.69046363C>T	ENSP00000295381:p.Pro370Leu					ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L	p.P370L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			9	1528	+			370					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1109C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.50|13.50	2.254697|2.254697	0.39896|0.39896	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T;T|T	0.18016|0.15487	2.7;2.7;2.43;2.7;2.7;2.61;2.24|2.42	5.12|5.12	3.29|3.29	0.37713|0.37713	.|.	0.757438|0.757438	0.13147|0.13147	N|N	0.410145|0.410145	T|T	0.07052|0.07052	0.0179|0.0179	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.28933|.	0.029;0.178;0.178;0.178;0.228;0.016|.	B;B;B;B;B;B|.	0.27796|.	0.01;0.036;0.058;0.058;0.083;0.003|.	T|T	0.16719|0.16719	-1.0393|-1.0393	10|8	0.11485|0.06365	T|T	0.65|0.9	.|.	6.1119|6.1119	0.20106|0.20106	0.3332:0.5798:0.0:0.0869|0.3332:0.5798:0.0:0.0869	.|.	331;371;364;363;364;370|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;RHG25_HUMAN|.	L|S	370;371;331;363;364;364;364;355;64|230	ENSP00000295381:P370L;ENSP00000386911:P371L;ENSP00000420583:P331L;ENSP00000386863:P363L;ENSP00000386241:P364L;ENSP00000417139:P364L;ENSP00000417467:P64L|ENSP00000417818:P230S	ENSP00000295381:P370L|ENSP00000417818:P230S	P|P	+|+	2|1	0|0	ARHGAP25|ARHGAP25	68899867|68899867	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	0.766000|0.766000	0.26560|0.26560	0.825000|0.825000	0.34637|0.34637	0.563000|0.563000	0.77884|0.77884	CCC|CCA		0.512	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		114	702	0	0	0	1	0	114	702				
NEUROD6	63974	broad.mit.edu	37	7	31378244	31378244	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378244G>A	ENST00000297142.3	-	2	961	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	213					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAGCTCAGGGCTGTGGTAGG	0.527																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(637-639)agC>agT		neuronal differentiation 6							125.0	97.0	106.0					7																	31378244		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378244G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.639C>T	7.37:g.31378244G>A							p.S213S	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	961	-			213					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.639C>T	CCDS5434.1																																																																																				0.527	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		82	395	0	0	0	1	0	82	395				
FUT2	2524	broad.mit.edu	37	19	49207006	49207006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49207006G>A	ENST00000425340.2	+	2	910	c.793G>A	c.(793-795)Gat>Aat	p.D265N	FUT2_ENST00000391876.4_Missense_Mutation_p.D265N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	265					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GTTTGCTGGCGATGGCATTGA	0.547																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(793-795)Gat>Aat		fucosyltransferase 2 (secretor status included)							262.0	214.0	230.0					19																	49207006		2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49207006G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.793G>A	19.37:g.49207006G>A	ENSP00000387498:p.Asp265Asn					FUT2_ENST00000391876.4_Missense_Mutation_p.D265N	p.D265N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	910	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	265					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.793G>A	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074326	0.01903	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.96587	-4.06;-4.06	5.25	-3.23	0.05109	.	.	.	.	.	D	0.86543	0.5958	N	0.01779	-0.725	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.73148	-0.4074	8	.	.	.	.	14.106	0.65091	0.3518:0.0:0.6482:0.0	.	265	Q10981	FUT2_HUMAN	N	265	ENSP00000387498:D265N;ENSP00000375748:D265N	.	D	+	1	0	FUT2	53898818	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-0.826000	0.04429	-0.736000	0.04831	-0.275000	0.10095	GAT		0.547	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		12	802	0	0	0	1	0	12	802				
BAK1	578	broad.mit.edu	37	6	33543127	33543127	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33543127G>A	ENST00000374467.3	-	4	546	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	BAK1_ENST00000442998.2_Silent_p.L100L|BAK1_ENST00000360661.5_Silent_p.L100L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	100					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGGGCTGCAGGTGCTGCAAC	0.592																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(298-300)Ctg>Ttg		BCL2-antagonist/killer 1							166.0	130.0	142.0					6																	33543127		2203	4298	6501	SO:0001819	synonymous_variant	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543127G>A	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.298C>T	6.37:g.33543127G>A						BAK1_ENST00000442998.2_Silent_p.L100L|BAK1_ENST00000360661.5_Silent_p.L100L	p.L100L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			4	546	-			100					C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	c.298C>T	CCDS4781.1																																																																																				0.592	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		68	303	0	0	0	1	0	68	303				
TMC6	11322	broad.mit.edu	37	17	76120077	76120077	+	Missense_Mutation	SNP	C	C	T	rs145227095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76120077C>T	ENST00000590602.1	-	9	1234	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M|TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	359					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TACCTGTACACCAGGGTGATG	0.557																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1075-1077)Gtg>Atg		transmembrane channel-like 6							80.0	72.0	74.0					17																	76120077		2203	4300	6503	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120077C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1075G>A	17.37:g.76120077C>T	ENSP00000465261:p.Val359Met					TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M	p.V359M			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		9	1234	-			359					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1075G>A	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313848	0.60414	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.65916	-0.18;-0.18;-0.18	4.34	4.34	0.51931	.	0.319446	0.28436	N	0.015355	T	0.73345	0.3575	M	0.62088	1.915	0.80722	D	1	D;P;D;D	0.64830	0.994;0.759;0.959;0.985	D;B;P;P	0.64687	0.928;0.414;0.556;0.838	T	0.75505	-0.3294	10	0.56958	D	0.05	-28.0279	12.4474	0.55659	0.0:0.9134:0.0:0.0866	.	359;132;359;359	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;TMC6_HUMAN	M	359	ENSP00000313408:V359M;ENSP00000376260:V359M;ENSP00000306405:V359M	ENSP00000306405:V359M	V	-	1	0	TMC6	73631672	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.587000	0.67510	1.945000	0.56424	0.455000	0.32223	GTG		0.557	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			53	208	0	0	0	1	0	53	208				
POFUT2	23275	broad.mit.edu	37	21	46703411	46703411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46703411G>A	ENST00000349485.5	-	3	440	c.414C>T	c.(412-414)taC>taT	p.Y138Y	POFUT2_ENST00000331343.7_Silent_p.Y138Y|POFUT2_ENST00000471540.1_5'Flank	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	138					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TTTGCAGGACGTAAACCTGGT	0.532																																						ENST00000331343.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(412-414)taC>taT		protein O-fucosyltransferase 2							236.0	210.0	219.0					21																	46703411		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46703411G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.414C>T	21.37:g.46703411G>A						POFUT2_ENST00000349485.5_Silent_p.Y138Y	p.Y138Y	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	3	440	-			138					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.414C>T	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	G	1.333	-0.596142	0.03771	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.52	-1.3	0.09259	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48305	-0.9047	4	.	.	.	-32.6851	8.3022	0.32021	0.6096:0.0:0.3904:0.0	.	.	.	.	C	16	.	.	R	-	1	0	POFUT2	45527839	0.221000	0.23642	0.967000	0.41034	0.073000	0.16967	-0.450000	0.06803	-0.100000	0.12241	0.650000	0.86243	CGT		0.532	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		197	749	0	0	0	1	0	197	749				
RPTOR	57521	broad.mit.edu	37	17	78897351	78897351	+	Missense_Mutation	SNP	C	C	T	rs377442287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78897351C>T	ENST00000306801.3	+	23	3048	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	896					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCCAAGCAGCCGGTCAGCCG	0.652																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(2686-2688)Ccg>Tcg		regulatory associated protein of MTOR, complex 1							38.0	41.0	40.0					17																	78897351		2201	4300	6501	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78897351C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2686C>T	17.37:g.78897351C>T	ENSP00000307272:p.Pro896Ser					RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S|RPTOR_ENST00000575542.1_3'UTR	p.P896S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			23	3048	+			896					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2686C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434890	0.62955	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.44881	0.96;0.91	5.02	4.03	0.46877	.	0.066605	0.64402	D	0.000011	T	0.55784	0.1942	L	0.53249	1.67	0.80722	D	1	D;P	0.67145	0.996;0.664	D;B	0.78314	0.991;0.217	T	0.50566	-0.8813	10	0.15952	T	0.53	.	14.3152	0.66446	0.1543:0.8457:0.0:0.0	.	738;896	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	896;738	ENSP00000307272:P896S;ENSP00000442479:P738S	ENSP00000307272:P896S	P	+	1	0	RPTOR	76511946	1.000000	0.71417	0.992000	0.48379	0.780000	0.44128	4.334000	0.59291	1.033000	0.39918	0.655000	0.94253	CCG		0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		37	260	0	0	0	1	0	37	260				
SHC2	25759	broad.mit.edu	37	19	440898	440898	+	Missense_Mutation	SNP	C	C	T	rs531385125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:440898C>T	ENST00000264554.6	-	2	502	c.503G>A	c.(502-504)cGc>cAc	p.R168H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	168	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAGGGAGCGCATAGAGCG	0.637																																						ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(502-504)cGc>cAc		SHC (Src homology 2 domain containing) transforming protein 2							94.0	115.0	108.0					19																	440898		2137	4243	6380	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:440898C>T	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.503G>A	19.37:g.440898C>T	ENSP00000264554:p.Arg168His						p.R168H	NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	502	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	168			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.503G>A	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166787	0.78339	.	.	ENSG00000129946	ENST00000264554	T	0.22539	1.95	3.2	3.2	0.36748	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.50429	0.1615	M	0.88450	2.955	0.48395	D	0.999646	D	0.89917	1.0	D	0.85130	0.997	T	0.61700	-0.7009	10	0.87932	D	0	-34.3311	12.6692	0.56858	0.0:1.0:0.0:0.0	.	168	P98077	SHC2_HUMAN	H	168	ENSP00000264554:R168H	ENSP00000264554:R168H	R	-	2	0	SHC2	391898	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.160000	0.77495	1.742000	0.51746	0.591000	0.81541	CGC		0.637	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			112	474	0	0	0	1	0	112	474				
FCAR	2204	broad.mit.edu	37	19	55401222	55401222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55401222G>A	ENST00000355524.3	+	5	867	c.857G>A	c.(856-858)tGc>tAc	p.C286Y	FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	286					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAAGTGTCTGCAAGTAAACA	0.522																																						ENST00000355524.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(856-858)tGc>tAc		Fc fragment of IgA, receptor for							78.0	81.0	80.0					19																	55401222		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401222G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.857G>A	19.37:g.55401222G>A	ENSP00000347714:p.Cys286Tyr					FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y	p.C286Y	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	867	+			286					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.857G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532216	0.27387	.	.	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.03831	3.79;6.83;6.46;4.79;6.52;6.65;6.32	2.46	-4.92	0.03075	.	.	.	.	.	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	D;D;P;D;D;P;D	0.65815	0.995;0.98;0.654;0.99;0.98;0.483;0.976	D;D;B;P;D;B;D	0.72982	0.979;0.962;0.254;0.781;0.962;0.118;0.923	T	0.12811	-1.0533	9	0.87932	D	0	.	3.4708	0.07566	0.1373:0.1611:0.5515:0.1502	.	177;252;178;274;264;190;286	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	Y	178;286;264;190;177;274;252	ENSP00000375606:C178Y;ENSP00000347714:C286Y;ENSP00000375605:C264Y;ENSP00000338257:C190Y;ENSP00000338058:C177Y;ENSP00000352218:C274Y;ENSP00000375604:C252Y	ENSP00000338257:C190Y	C	+	2	0	FCAR	60093034	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.608000	0.02068	-1.199000	0.02666	-0.262000	0.10625	TGC		0.522	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		113	477	0	0	0	1	0	113	477				
ATP2B1	490	broad.mit.edu	37	12	89996890	89996890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89996890C>A	ENST00000428670.3	-	18	3446	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	997					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GAATACATTTCTTTCACCATG	0.348																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2989-2991)aGa>aTa		ATPase, Ca++ transporting, plasma membrane 1							101.0	95.0	97.0					12																	89996890		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89996890C>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2990G>T	12.37:g.89996890C>A	ENSP00000392043:p.Arg997Ile					ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I	p.R997I			P20020	AT2B1_HUMAN			18	3446	-			997					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.2990G>T	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.177853|5.177853	0.94846|0.94846	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.|D;D;D;D;D	.|0.94862	.|-3.54;-3.54;-3.54;-3.54;-3.54	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96191	.|0.8758	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.76494	.|0.999;0.36;0.323	.|D;B;B	.|0.83275	.|0.996;0.158;0.048	.|D	.|0.96487	.|0.9361	.|10	.|0.59425	.|D	.|0.04	-8.967|-8.967	18.7145|18.7145	0.91670|0.91670	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|997;997;997	.|P20020-3;P20020-2;P20020-6	.|.;.;.	X|I	14|997;997;997;997;740	.|ENSP00000261173:R997I;ENSP00000343599:R997I;ENSP00000352054:R997I;ENSP00000392043:R997I;ENSP00000376869:R740I	.|ENSP00000261173:R997I	E|R	-|-	1|2	0|0	ATP2B1|ATP2B1	88521021|88521021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.485000|2.485000	0.83878|0.83878	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.348	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		10	241	1	0	0.000673444	1	0.000681208	10	241				
TECTA	7007	broad.mit.edu	37	11	120998829	120998829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120998829C>T	ENST00000392793.1	+	9	2414	c.2143C>T	c.(2143-2145)Ctc>Ttc	p.L715F	TECTA_ENST00000264037.2_Missense_Mutation_p.L715F			O75443	TECTA_HUMAN	tectorin alpha	715	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGTGCCTGCTCAGCCAGAA	0.652																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2143-2145)Ctc>Ttc		tectorin alpha							84.0	71.0	76.0					11																	120998829		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998829C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2143C>T	11.37:g.120998829C>T	ENSP00000376543:p.Leu715Phe					TECTA_ENST00000264037.2_Missense_Mutation_p.L715F	p.L715F			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2414	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	715			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2143C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031115	0.35797	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60920	0.15;0.15	5.67	2.47	0.30058	von Willebrand factor, type D domain (3);	0.410318	0.26016	N	0.026850	T	0.55657	0.1934	L	0.44542	1.39	0.28346	N	0.921119	P	0.36535	0.557	P	0.44732	0.459	T	0.56019	-0.8048	10	0.59425	D	0.04	.	12.1335	0.53957	0.1003:0.4443:0.4554:0.0	.	715	O75443	TECTA_HUMAN	F	715	ENSP00000376543:L715F;ENSP00000264037:L715F	ENSP00000264037:L715F	L	+	1	0	TECTA	120504039	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	1.883000	0.39658	0.717000	0.32145	-0.175000	0.13238	CTC		0.652	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		78	359	0	0	0	1	0	78	359				
NKAP	79576	broad.mit.edu	37	X	119068457	119068457	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119068457G>A	ENST00000371410.3	-	5	903	c.737C>T	c.(736-738)tCg>tTg	p.S246L	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	246	Lys-rich.|Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAAAACTGACGATCTGTGTTT	0.289													G|||	1	0.000264901	0.0	0.0	3775	,	,		9427	0.0		0.0	False		,,,				2504	0.001					ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.e5+1		NFKB activating protein							64.0	64.0	64.0					X																	119068457		2203	4285	6488	SO:0001630	splice_region_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119068457G>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.737+1C>T	X.37:g.119068457G>A						NKAP_ENST00000477789.1_5'UTR	p.S246_splice	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			5	903	-			246			Lys-rich.|Necessary for interaction with CIR1.		Q6IPW6|Q96BQ2|Q9H638	Splice_Site	SNP	ENST00000371410.3	37	c.737_splice	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	3.830	-0.035889	0.07497	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	3.87	1.96	0.26148	.	1.093730	0.06943	N	0.813167	T	0.09423	0.0232	N	0.19112	0.55	0.26990	N	0.965166	B;P	0.35700	0.043;0.516	B;B	0.22601	0.008;0.04	T	0.32455	-0.9906	9	.	.	.	0.1973	8.1561	0.31169	0.0:0.3212:0.5201:0.1587	.	246;246	Q8N5F7;A0PJ73	NKAP_HUMAN;.	L	246	ENSP00000360464:S246L	.	S	-	2	0	NKAP	118952485	1.000000	0.71417	0.386000	0.26170	0.002000	0.02628	1.463000	0.35277	0.224000	0.20940	-0.322000	0.08575	TCG		0.289	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	Missense_Mutation	62	278	0	0	0	1	0	62	278				
PKLR	5313	broad.mit.edu	37	1	155265358	155265358	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155265358T>C	ENST00000342741.4	-	4	415	c.377A>G	c.(376-378)tAc>tGc	p.Y126C	PKLR_ENST00000392414.3_Splice_Site_p.Y95C	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	126					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCAGCATGGTACTGGGGGAG	0.692																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e4-1		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						37.0	36.0	36.0					1																	155265358		2203	4300	6503	SO:0001630	splice_region_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155265358T>C	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.376-1A>G	1.37:g.155265358T>C						PKLR_ENST00000342741.4_Splice_Site_p.Y126_splice	p.Y95_splice	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		4	397	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		126		G -> R (in PKRD).			O75758|P11973	Splice_Site	SNP	ENST00000342741.4	37	c.282_splice	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868150	0.72065	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99445	-5.91;-5.91	4.25	4.25	0.50352	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.065304	0.64402	D	0.000005	D	0.99576	0.9847	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98139	1.0435	10	0.87932	D	0	-15.2275	11.6206	0.51115	0.0:0.0:0.0:1.0	.	126;117	P30613;B1AVT1	KPYR_HUMAN;.	C	151;95;126;62	ENSP00000376214:Y95C;ENSP00000339933:Y126C	ENSP00000271946:Y62C	Y	-	2	0	PKLR	153531982	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	7.650000	0.83521	1.907000	0.55213	0.528000	0.53228	TAC		0.692	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	Missense_Mutation	21	194	0	0	0	1	0	21	194				
TTN	7273	broad.mit.edu	37	2	179593619	179593619	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179593619T>G	ENST00000591111.1	-	63	18419	c.18195A>C	c.(18193-18195)caA>caC	p.Q6065H	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Splice_Site_p.Q6382H|TTN_ENST00000342992.6_Splice_Site_p.Q5138H			Q8WZ42	TITIN_HUMAN	titin	12853					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)			CTTACAAACCTTGTACTAAAA	0.378																																						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.e65+1		titin							72.0	65.0	67.0					2																	179593619		1903	4134	6037	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593619T>G	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.18196+1A>C	2.37:g.179593619T>G						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.Q5138_splice|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site_p.Q6065_splice	p.Q6382_splice	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)		65	19370	-			6065			Ig-like 45.		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	Splice_Site	SNP	ENST00000591111.1	37	c.19147_splice		.	.	.	.	.	.	.	.	.	.	T	12.02	1.811439	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.41758	0.99	5.63	5.63	0.86233	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55752	0.1940	L	0.43757	1.38	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.58364	-0.7649	9	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	6065	Q8WZ42	TITIN_HUMAN	H	5138	ENSP00000343764:Q5138H	ENSP00000343764:Q5138H	Q	-	3	2	TTN	179301864	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	CAA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	60	148	0	0	0	1	0	60	148				
SHMT2	6472	broad.mit.edu	37	12	57626282	57626282	+	Missense_Mutation	SNP	G	G	A	rs199498720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626282G>A	ENST00000328923.3	+	6	1093	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	214					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CTGACTGCTCGACTTTTCCGG	0.582																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(640-642)cGa>cAa		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	102.0	101.0	101.0		611,578,578,578,641	5.1	1.0	12		101	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	SHMT2	NM_001166356.1,NM_001166357.1,NM_001166358.1,NM_001166359.1,NM_005412.5	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	204/495,193/484,193/484,193/484,214/505	57626282	1,13005	2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626282G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.641G>A	12.37:g.57626282G>A	ENSP00000333667:p.Arg214Gln					SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q	p.R214Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			6	1093	+			214					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.641G>A	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442673	0.43326	0.0	1.16E-4	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049;ENST00000393827	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.237070	0.38837	N	0.001543	T	0.31513	0.0799	L	0.47078	1.49	0.48395	D	0.999647	D;P;P;P;P	0.54772	0.968;0.837;0.862;0.93;0.911	B;B;B;B;B	0.34873	0.144;0.191;0.161;0.087;0.068	T	0.19353	-1.0308	10	0.12103	T	0.63	-4.0994	17.7941	0.88564	0.0:0.0:1.0:0.0	.	223;204;118;145;214	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897	.;.;.;.;GLYM_HUMAN	Q	214;204;53;193;193;193;193;118	ENSP00000333667:R214Q;ENSP00000452315:R204Q;ENSP00000450930:R53Q;ENSP00000406881:R193Q;ENSP00000452419:R193Q;ENSP00000452404:R193Q;ENSP00000413770:R193Q;ENSP00000377413:R118Q	ENSP00000333667:R214Q	R	+	2	0	SHMT2	55912549	0.984000	0.35163	0.983000	0.44433	0.959000	0.62525	4.199000	0.58426	2.816000	0.96949	0.563000	0.77884	CGA		0.582	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		149	688	0	0	0	1	0	149	688				
KLHL14	57565	broad.mit.edu	37	18	30349761	30349761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30349761C>T	ENST00000359358.4	-	2	1232	c.794G>A	c.(793-795)cGc>cAc	p.R265H	KLHL14_ENST00000358095.4_Missense_Mutation_p.R265H|AC012123.1_ENST00000426194.1_5'UTR	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	265	BACK.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAGGGCGAAGCGGAGGCGCTT	0.657																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(793-795)cGc>cAc		kelch-like family member 14							39.0	42.0	41.0					18																	30349761		2203	4299	6502	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349761C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.794G>A	18.37:g.30349761C>T	ENSP00000352314:p.Arg265His					AC012123.1_ENST00000426194.1_5'UTR|KLHL14_ENST00000358095.4_Missense_Mutation_p.R265H	p.R265H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1232	-			265			BACK.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.794G>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414104	0.83449	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.80738	-1.41;-1.41	4.91	4.91	0.64330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90225	0.6944	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91781	0.5435	10	0.72032	D	0.01	.	17.0807	0.86598	0.0:1.0:0.0:0.0	.	265	Q9P2G3	KLH14_HUMAN	H	265	ENSP00000352314:R265H;ENSP00000350808:R265H	ENSP00000350808:R265H	R	-	2	0	KLHL14	28603759	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.934000	0.70138	2.282000	0.76494	0.455000	0.32223	CGC		0.657	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			85	381	0	0	0	1	0	85	381				
PITPNM3	83394	broad.mit.edu	37	17	6387061	6387061	+	Silent	SNP	C	C	T	rs375235477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6387061C>T	ENST00000262483.8	-	6	450	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PITPNM3_ENST00000421306.3_Silent_p.P85P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	121					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGAGCGCTGCGGGCAGCCTT	0.637																																						ENST00000262483.8																			0											c.(361-363)ccG>ccA				C	,	1,4405	2.1+/-5.4	0,1,2202	50.0	48.0	49.0		255,363	-10.3	0.1	17		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PITPNM3	NM_001165966.1,NM_031220.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	85/939,121/975	6387061	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6387061C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.363G>A	17.37:g.6387061C>T						ACKR6_ENST00000421306.3_Silent_p.P85P	p.P121P	NM_031220.3	NP_112497.2					6	450	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.363G>A	CCDS11076.1																																																																																				0.637	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		74	286	0	0	0	1	0	74	286				
PJA1	64219	broad.mit.edu	37	X	68382676	68382676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382676G>A	ENST00000361478.1	-	2	783	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	136					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACTGGCGGTCGCTCAACAGGC	0.522																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(406-408)Cga>Tga		praja ring finger 1, E3 ubiquitin protein ligase							46.0	45.0	45.0					X																	68382676		2203	4300	6503	SO:0001587	stop_gained	64219						zinc ion binding	g.chrX:68382676G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.406C>T	X.37:g.68382676G>A	ENSP00000355014:p.Arg136*					PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*	p.R136*	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	783	-			136					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Nonsense_Mutation	SNP	ENST00000361478.1	37	c.406C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514824	0.96402	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	.	.	.	3.12	3.12	0.35913	.	1.339660	0.05905	U	0.630712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.011	0.24863	0.0:0.0:0.7295:0.2705	.	.	.	.	X	81;136;136;81	.	ENSP00000355014:R136X	R	-	1	2	PJA1	68299401	0.003000	0.15002	0.900000	0.35374	0.990000	0.78478	0.313000	0.19415	1.875000	0.54330	0.464000	0.42555	CGA		0.522	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		52	167	0	0	0	1	0	52	167				
ACAT1	38	broad.mit.edu	37	11	108016987	108016987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108016987C>T	ENST00000265838.4	+	11	1155	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	355					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GTAAATGAAGCCTTTAGTCTG	0.343																																						ENST00000265838.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(1063-1065)gCc>gTc		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						150.0	172.0	164.0					11																	108016987		2201	4298	6499	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108016987C>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1064C>T	11.37:g.108016987C>T	ENSP00000265838:p.Ala355Val						p.A355V	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	11	1155	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	355					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.1064C>T	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515935	0.96402	.	.	ENSG00000075239	ENST00000265838	D	0.96619	-4.07	5.86	5.86	0.93980	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98609	1.0662	10	0.87932	D	0	-6.009	20.1986	0.98248	0.0:1.0:0.0:0.0	.	355	P24752	THIL_HUMAN	V	355	ENSP00000265838:A355V	ENSP00000265838:A355V	A	+	2	0	ACAT1	107522197	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.584000	0.82572	2.781000	0.95711	0.650000	0.86243	GCC		0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		27	604	0	0	0	1	0	27	604				
ZNF586	54807	broad.mit.edu	37	19	58290546	58290546	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58290546G>A	ENST00000396154.2	+	3	764	c.591G>A	c.(589-591)agG>agA	p.R197R	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000396150.4_Missense_Mutation_p.G155E|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAACCACAGGAAAGTTCACT	0.433																																						ENST00000396150.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(463-465)gGa>gAa		zinc finger protein 586							102.0	104.0	104.0					19																	58290546		2156	4290	6446	SO:0001819	synonymous_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290546G>A	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.591G>A	19.37:g.58290546G>A						ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Silent_p.R197R|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000599802.1_Intron	p.G155E	NM_001077426.2	NP_001070894.1	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	611	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	146					A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.464G>A	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	G	6.409	0.443595	0.12164	.	.	ENSG00000083828	ENST00000396150	T	0.04551	3.6	1.56	0.411	0.16392	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	0.999998	P	0.43231	0.801	P	0.47786	0.557	T	0.35992	-0.9766	8	0.29301	T	0.29	.	2.7407	0.05252	0.3539:0.2537:0.3924:0.0	.	155	A0JLV8	.	E	155	ENSP00000379454:G155E	ENSP00000379454:G155E	G	+	2	0	ZNF586	62982358	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.656000	0.05342	-0.015000	0.14150	0.591000	0.81541	GGA		0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		93	452	0	0	0	1	0	93	452				
ZCCHC8	55596	broad.mit.edu	37	12	122958719	122958719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958719G>A	ENST00000336229.4	-	14	1579	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	ZCCHC8_ENST00000543897.1_Silent_p.V245V|ZCCHC8_ENST00000536306.1_Silent_p.V245V|ZCCHC8_ENST00000538116.1_Silent_p.V94V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	483	Pro-rich.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGGGTGAAGACGGGTGGAG	0.587																																						ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(733-735)gtC>gtT		zinc finger, CCHC domain containing 8							50.0	57.0	55.0					12																	122958719		2100	4229	6329	SO:0001819	synonymous_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958719G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1449C>T	12.37:g.122958719G>A						ZCCHC8_ENST00000336229.4_Silent_p.V483V|ZCCHC8_ENST00000538116.1_Silent_p.V94V|ZCCHC8_ENST00000536306.1_Silent_p.V245V	p.V245V			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	12	3090	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		483					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37	c.735C>T																																																																																					0.587	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		65	281	0	0	0	1	0	65	281				
OR10R2	343406	broad.mit.edu	37	1	158450303	158450303	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450303A>C	ENST00000368152.1	+	1	636	c.636A>C	c.(634-636)acA>acC	p.T212T	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GTACCAACACAGATGTTAACG	0.383																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(634-636)acA>acC		olfactory receptor, family 10, subfamily R, member 2							162.0	153.0	156.0					1																	158450303		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450303A>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.636A>C	1.37:g.158450303A>C						RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.T212T	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	636	+	all_hematologic(112;0.0378)		212					Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.636A>C	CCDS30898.1																																																																																				0.383	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		14	908	0	0	0	1	0	14	908				
LIPG	9388	broad.mit.edu	37	18	47091750	47091750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47091750G>A	ENST00000261292.4	+	2	439	c.161G>A	c.(160-162)cGc>cAc	p.R54H	LIPG_ENST00000427224.2_Missense_Mutation_p.R54H|LIPG_ENST00000577628.1_Missense_Mutation_p.R90H|LIPG_ENST00000580036.1_Missense_Mutation_p.R54H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	54					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTTAACCTCCGCACCTCCAAG	0.517																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(160-162)cGc>cAc		lipase, endothelial							118.0	96.0	103.0					18																	47091750		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47091750G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.161G>A	18.37:g.47091750G>A	ENSP00000261292:p.Arg54His					LIPG_ENST00000577628.1_Missense_Mutation_p.R90H|LIPG_ENST00000580036.1_Missense_Mutation_p.R54H|LIPG_ENST00000427224.2_Missense_Mutation_p.R54H	p.R54H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			2	439	+			54					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.161G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013161	0.35511	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.90504	-2.68;-2.68	5.34	1.49	0.22878	Lipase, N-terminal (1);	0.251674	0.44688	D	0.000424	T	0.78381	0.4274	N	0.16066	0.365	0.30685	N	0.751944	B;B;B	0.24768	0.024;0.111;0.099	B;B;B	0.25291	0.027;0.059;0.024	T	0.68123	-0.5492	10	0.37606	T	0.19	-24.4886	4.4407	0.11573	0.2138:0.0:0.5156:0.2705	.	54;54;54	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	54	ENSP00000261292:R54H;ENSP00000387978:R54H	ENSP00000261292:R54H	R	+	2	0	LIPG	45345748	0.998000	0.40836	0.898000	0.35279	0.772000	0.43724	3.609000	0.54117	-0.010000	0.14271	0.561000	0.74099	CGC		0.517	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		52	223	0	0	0	1	0	52	223				
JAKMIP2	9832	broad.mit.edu	37	5	146997591	146997591	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146997591C>A	ENST00000265272.5	-	19	2696	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	743						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCTCTTGCTGTTTTTCAC	0.423																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(2227-2229)caG>caT		janus kinase and microtubule interacting protein 2							163.0	148.0	153.0					5																	146997591		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:146997591C>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2229G>T	5.37:g.146997591C>A	ENSP00000265272:p.Gln743His					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H	p.Q743H	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	2696	-			743					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.2229G>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567737	0.65651	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.27104	1.7;1.69;1.7	5.61	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.65498	2.005	0.50313	D	0.999864	P;P;P;P	0.47677	0.899;0.899;0.899;0.899	P;P;P;B	0.44990	0.466;0.466;0.466;0.371	T	0.06041	-1.0849	10	0.66056	D	0.02	.	8.6976	0.34305	0.0:0.5699:0.0:0.4301	.	701;743;722;743	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	H	722;743;701;722	ENSP00000421398:Q722H;ENSP00000265272:Q743H;ENSP00000328989:Q701H	ENSP00000265272:Q743H	Q	-	3	2	JAKMIP2	146977784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.161000	0.31773	0.415000	0.25817	0.563000	0.77884	CAG		0.423	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		80	408	1	0	7.2426e-40	1	8.76758e-40	80	408				
NEB	4703	broad.mit.edu	37	2	152352790	152352790	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152352790C>T	ENST00000172853.10	-	140	19065	c.18918G>A	c.(18916-18918)tcG>tcA	p.S6306S	NEB_ENST00000603639.1_Splice_Site_p.S8162S|NEB_ENST00000509223.2_Splice_Site_p.S106S|NEB_ENST00000604864.1_Splice_Site_p.S8162S|NEB_ENST00000498015.2_Intron|NEB_ENST00000397345.3_Splice_Site_p.S8162S|NEB_ENST00000409198.1_Splice_Site_p.S6306S|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Splice_Site_p.S137S|NEB_ENST00000427231.2_Splice_Site_p.S8162S			P20929	NEBU_HUMAN	nebulin	6306					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S8162S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCCAAGTACCGAGCTAATAT	0.333																																						ENST00000397345.3																			1	Substitution - coding silent(1)	p.S8162S(1)	endometrium(1)	NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.e173+1		nebulin							90.0	71.0	77.0					2																	152352790		1811	4074	5885	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152352790C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18918+1G>A	2.37:g.152352790C>T						NEB_ENST00000409198.1_Splice_Site_p.S6306_splice|RIF1_ENST00000457745.1_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000397336.2_Splice_Site_p.S137_splice|NEB_ENST00000603639.1_Splice_Site_p.S8162_splice|NEB_ENST00000172853.10_Splice_Site_p.S6306_splice|NEB_ENST00000604864.1_Splice_Site_p.S8162_splice|NEB_ENST00000427231.2_Splice_Site_p.S8162_splice|NEB_ENST00000509223.2_Splice_Site_p.S106_splice	p.S8162_splice	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	173	24688	-			6470					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37	c.24486_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.339299|2.339299	0.41398|0.41398	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000397337	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.74168|0.74168	0.3681|0.3681	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73307|0.73307	-0.4024|-0.4024	4|4	.|.	.|.	.|.	.|.	18.2919|18.2919	0.90133|0.90133	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|Q	308|296	.|.	.|.	G|R	-|-	1|2	0|0	NEB|NEB	152061036|152061036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.995000|6.995000	0.76257|0.76257	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.333	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Silent	30	95	0	0	0	1	0	30	95				
ZNF662	389114	broad.mit.edu	37	3	42956571	42956571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956571G>A	ENST00000541208.1	+	5	1375	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGAATGTAAGGACTGTGGGAA	0.488																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1006-1008)Gac>Aac		zinc finger protein 662							90.0	84.0	86.0					3																	42956571		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956571G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1006G>A	3.37:g.42956571G>A	ENSP00000446208:p.Asp336Asn					ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.D336N			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1375	+			336					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1006G>A	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673663	0.47781	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.07327	3.2;3.2;3.2	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.25485	0.75	0.23162	N	0.998194	B;B	0.33919	0.378;0.432	B;B	0.33392	0.101;0.163	T	0.28808	-1.0032	9	0.87932	D	0	.	11.6396	0.51224	0.0:0.0:1.0:0.0	.	362;336	F8W7S8;Q6ZS27	.;ZN662_HUMAN	N	336;362;336	ENSP00000405047:D336N;ENSP00000329264:D362N;ENSP00000446208:D336N	ENSP00000329264:D362N	D	+	1	0	ZNF662	42931575	0.003000	0.15002	0.985000	0.45067	0.969000	0.65631	0.686000	0.25392	1.665000	0.50811	0.555000	0.69702	GAC		0.488	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		62	203	0	0	0	1	0	62	203				
PRCP	5547	broad.mit.edu	37	11	82561517	82561517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82561517C>A	ENST00000313010.3	-	4	636	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	148					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCTTGTTCTGATGTCAGG	0.408																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(442-444)Gaa>Taa		prolylcarboxypeptidase (angiotensinase C)							120.0	120.0	120.0					11																	82561517		2203	4300	6503	SO:0001587	stop_gained	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82561517C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.442G>T	11.37:g.82561517C>A	ENSP00000317362:p.Glu148*					PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*	p.E148*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			4	636	-			148					A8MU24|B2R7B7|B3KRK5|B5BU34	Nonsense_Mutation	SNP	ENST00000313010.3	37	c.442G>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176326	0.78564	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6616	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	X	148;169;43;43;43;43;43;43;107;43;94;43	.	.	E	-	1	0	PRCP	82239165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.801000	0.96364	0.650000	0.86243	GAA		0.408	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		103	473	1	0	5.50669e-55	1	6.87845e-55	103	473				
TEAD2	8463	broad.mit.edu	37	19	49850619	49850619	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49850619T>C	ENST00000311227.2	-	9	827	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	TEAD2_ENST00000598810.1_Splice_Site_p.Y250C|TEAD2_ENST00000593945.1_Splice_Site_p.Y250C|TEAD2_ENST00000539846.1_Splice_Site_p.Y118C|TEAD2_ENST00000377214.4_Splice_Site_p.Y249C|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000601519.1_Splice_Site_p.Y249C	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	246	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GTGCCTCTGGTACTGAGGAGG	0.632																																						ENST00000377214.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.e8-1		TEA domain family member 2							70.0	78.0	75.0					19																	49850619		2203	4300	6503	SO:0001630	splice_region_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49850619T>C	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.736-1A>G	19.37:g.49850619T>C						TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000593945.1_Splice_Site_p.Y250_splice|TEAD2_ENST00000539846.1_Splice_Site_p.Y118_splice|TEAD2_ENST00000598810.1_Splice_Site_p.Y250_splice|TEAD2_ENST00000601519.1_Splice_Site_p.Y249_splice|TEAD2_ENST00000311227.2_Splice_Site_p.Y246_splice	p.Y249_splice			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	1108	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	246			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Splice_Site	SNP	ENST00000311227.2	37	c.744_splice	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321648	0.60634	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.37058	1.22;1.22;1.22	5.03	2.72	0.32119	.	0.354519	0.23528	N	0.047206	T	0.46054	0.1373	L	0.56396	1.775	0.39856	D	0.97331	D;B;D	0.69078	0.997;0.047;0.971	P;B;P	0.57776	0.827;0.117;0.813	T	0.46428	-0.9192	10	0.62326	D	0.03	-12.8121	8.2952	0.31982	0.3265:0.0:0.0:0.6735	.	118;246;249	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	C	246;249;118	ENSP00000310701:Y246C;ENSP00000366419:Y249C;ENSP00000437928:Y118C	ENSP00000310701:Y246C	Y	-	2	0	TEAD2	54542431	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.937000	0.40193	0.843000	0.35070	0.533000	0.62120	TAC		0.632	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	Missense_Mutation	111	502	0	0	0	1	0	111	502				
EMX2	2018	broad.mit.edu	37	10	119302963	119302963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119302963G>A	ENST00000553456.3	+	1	1009	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EMX2_ENST00000442245.4_Missense_Mutation_p.G62D|EMX2OS_ENST00000551288.1_RNA|EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	62					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		gccggTAGGGGCGTCTACTCC	0.721																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(184-186)gGc>gAc		empty spiracles homeobox 2							6.0	8.0	7.0					10																	119302963		2097	4114	6211	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119302963G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.185G>A	10.37:g.119302963G>A	ENSP00000450962:p.Gly62Asp					EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.G62D	p.G62D	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1009	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	62					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.185G>A	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826475	0.32329	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91843	-2.92	5.91	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	N	0.08118	0	0.80722	D	1	B;B	0.33413	0.049;0.411	B;B	0.26517	0.04;0.07	T	0.81788	-0.0772	10	0.39692	T	0.17	-16.1459	15.1126	0.72372	0.0676:0.0:0.9324:0.0	.	62;62	G3V305;Q04743	.;EMX2_HUMAN	D	62	ENSP00000450962:G62D	ENSP00000358202:G62D	G	+	2	0	AC005871.1;EMX2	119292953	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.389000	0.66255	1.506000	0.48736	0.643000	0.83706	GGC		0.721	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		38	127	0	0	0	1	0	38	127				
GRIN2B	2904	broad.mit.edu	37	12	13720117	13720117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13720117C>T	ENST00000609686.1	-	12	2649	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	814					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGTCAATGTCCAGCTGGCTG	0.527																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2440-2442)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						120.0	111.0	114.0					12																	13720117		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13720117C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2440G>A	12.37:g.13720117C>T	ENSP00000477455:p.Asp814Asn						p.D814N	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			12	2649	-			814					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2440G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560709	0.96527	.	.	ENSG00000150086	ENST00000279593	T	0.49720	0.77	5.43	5.43	0.79202	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67300	-0.5705	10	0.72032	D	0.01	.	19.2468	0.93905	0.0:1.0:0.0:0.0	.	814	Q13224	NMDE2_HUMAN	N	814	ENSP00000279593:D814N	ENSP00000279593:D814N	D	-	1	0	GRIN2B	13611384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.554000	0.86153	0.650000	0.86243	GAC		0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			61	353	0	0	0	1	0	61	353				
RAB7A	7879	broad.mit.edu	37	3	128514202	128514202	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128514202G>A	ENST00000265062.3	+	2	238		c.e2-1		RAB7A_ENST00000485280.1_5'UTR|RAB7A_ENST00000482525.1_Splice_Site	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCCCCCTTTAGTTTGAAGGAT	0.453											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265062.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.e2-1		RAB7A, member RAS oncogene family							135.0	125.0	128.0					3																	128514202		2203	4300	6503	SO:0001630	splice_region_variant	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128514202G>A	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.-8-1G>A	3.37:g.128514202G>A			OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	RAB7A_ENST00000485280.1_5'UTR|RAB7A_ENST00000482525.1_Splice_Site		NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	2	238	+								A8K3V6|Q9NWJ0|Q9UPB0	Splice_Site	SNP	ENST00000265062.3	37		CCDS3052.1																																																																																				0.453	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1		Intron	67	330	0	0	0	1	0	67	330				
ABCC3	8714	broad.mit.edu	37	17	48746712	48746712	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48746712G>T	ENST00000285238.8	+	17	2144		c.e17-1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGTGGCCAGGGCTCCGTGG	0.607																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.e17-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						57.0	56.0	56.0					17																	48746712		2203	4300	6503	SO:0001630	splice_region_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48746712G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2065-1G>T	17.37:g.48746712G>T								NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		17	2144	+								B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Splice_Site	SNP	ENST00000285238.8	37		CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806506	0.31961	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4367	0.87554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC3	46101711	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	9.657000	0.98554	2.432000	0.82394	0.305000	0.20034	.		0.607	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038	Intron	56	257	1	0	1.83081e-24	1	2.09304e-24	56	257				
POMGNT1	55624	broad.mit.edu	37	1	46657980	46657980	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46657980C>A	ENST00000371984.3	-	16	1570	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Splice_Site_p.K449N|POMGNT1_ENST00000371986.3_Splice_Site_p.K471N|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Splice_Site_p.K471N	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	471					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TGACAGTTACCTTTTCCGGTG	0.572																																						ENST00000371992.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e16+1		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							91.0	87.0	88.0					1																	46657980		2203	4300	6503	SO:0001630	splice_region_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46657980C>A		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1413+1G>T	1.37:g.46657980C>A						POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Splice_Site_p.K449_splice|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371984.3_Splice_Site_p.K471_splice|POMGNT1_ENST00000371986.3_Splice_Site_p.K471_splice	p.K471_splice	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN			16	2063	-	Acute lymphoblastic leukemia(166;0.155)		471					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Splice_Site	SNP	ENST00000371984.3	37	c.1413_splice	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015422	0.75161	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T	0.33654	1.43;1.4;1.43;1.4	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.49350	1.555	0.80722	D	1	D;D;D;D;P;D	0.54397	0.958;0.966;0.966;0.966;0.829;0.966	P;P;P;P;P;P	0.53313	0.547;0.723;0.676;0.676;0.583;0.676	T	0.15435	-1.0437	9	.	.	.	-24.6181	13.6145	0.62099	0.0:0.9294:0.0:0.0706	.	449;449;449;471;328;471	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	N	471;471;449;471	ENSP00000361052:K471N;ENSP00000361060:K471N;ENSP00000443767:K449N;ENSP00000361054:K471N	.	K	-	3	2	POMGNT1	46430567	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.655000	0.61476	2.843000	0.97960	0.585000	0.79938	AAG		0.572	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739	Missense_Mutation	40	316	1	0	2.95478e-19	1	3.29235e-19	40	316				
ITPR1	3708	broad.mit.edu	37	3	4683914	4683914	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683914G>T	ENST00000443694.2	+	5	504	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N|ITPR1_ENST00000302640.8_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	168					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CATTCTACAAGCTGCGATCCA	0.468																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(502-504)aaG>aaT		inositol 1,4,5-trisphosphate receptor, type 1							91.0	93.0	92.0					3																	4683914		2007	4173	6180	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4683914G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.504G>T	3.37:g.4683914G>T	ENSP00000401671:p.Lys168Asn					ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N|ITPR1_ENST00000443694.2_Missense_Mutation_p.K168N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N	p.K168N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	7	854	+			168					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.504G>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299581	0.60195	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.28	3.48	0.39840	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.93854	3.465	0.37152	D	0.902198	D;P;D;P;P	0.89917	0.977;0.91;1.0;0.885;0.86	D;P;D;P;P	0.97110	0.993;0.795;1.0;0.638;0.505	D	0.99905	1.1178	10	0.87932	D	0	.	9.6978	0.40167	0.2638:0.0:0.7362:0.0	.	168;168;168;168;168	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	N	168	ENSP00000306253:K168N;ENSP00000346595:K168N;ENSP00000405934:K168N;ENSP00000349597:K168N;ENSP00000397885:K168N;ENSP00000440564:K168N;ENSP00000401671:K168N	ENSP00000306253:K168N	K	+	3	2	ITPR1	4658914	0.993000	0.37304	1.000000	0.80357	0.590000	0.36582	0.318000	0.19504	1.223000	0.43536	0.655000	0.94253	AAG		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		16	159	1	0	7.07596e-05	1	7.20791e-05	16	159				
HNRNPA1L2	144983	broad.mit.edu	37	13	53217583	53217583	+	Missense_Mutation	SNP	G	G	T	rs569388724		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53217583G>T	ENST00000357495.2	+	1	1016	c.956G>T	c.(955-957)aGa>aTa	p.R319I	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	319					alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						AGTGGCAGAAGATTTTAATTA	0.493													-|||	1	0.000199681	0.0008	0.0	5008	,	,		17655	0.0		0.0	False		,,,				2504	0.0					ENST00000342657.3																			0				cervix(1)|large_intestine(1)|lung(5)	7						c.(955-957)aGa>aTa		heterogeneous nuclear ribonucleoprotein A1-like 2							29.0	33.0	32.0					13																	53217583		1554	2869	4423	SO:0001583	missense	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217583G>T		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.956G>T	13.37:g.53217583G>T	ENSP00000350090:p.Arg319Ile					HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I	p.R319I	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN			7	2029	+			319					Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	c.956G>T	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013350	0.35511	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	T;T;T	0.70631	-0.5;-0.5;-0.5	0.352	0.352	0.16051	.	.	.	.	.	D	0.84097	0.5397	H	0.95982	3.75	0.37038	D	0.897007	D	0.55605	0.972	P	0.55011	0.766	D	0.88224	0.2899	8	0.87932	D	0	.	.	.	.	.	319	Q32P51	RA1L2_HUMAN	I	319	ENSP00000341285:R319I;ENSP00000381119:R319I;ENSP00000350090:R319I	ENSP00000341285:R319I	R	+	2	0	HNRNPA1L2	52115584	0.120000	0.22244	0.981000	0.43875	0.425000	0.31504	1.288000	0.33296	0.455000	0.26910	0.089000	0.15464	AGA		0.493	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		37	213	1	0	2.87052e-16	1	3.15093e-16	37	213				
C6	729	broad.mit.edu	37	5	41160256	41160256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41160256C>A	ENST00000263413.3	-	11	1936	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	C6_ENST00000337836.5_Missense_Mutation_p.D558Y|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	558					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATTTATAATCTGGAGACTGT	0.418																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1672-1674)Gat>Tat		complement component 6							91.0	91.0	91.0					5																	41160256		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160256C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1672G>T	5.37:g.41160256C>A	ENSP00000263413:p.Asp558Tyr					C6_ENST00000337836.5_Missense_Mutation_p.D558Y	p.D558Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1936	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	558						Missense_Mutation	SNP	ENST00000263413.3	37	c.1672G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751077	0.69533	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.62639	0.01;0.01	6.06	6.06	0.98353	.	1.329030	0.04512	N	0.382988	D	0.83566	0.5282	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.71902	-0.4452	10	0.72032	D	0.01	-18.6999	20.6208	0.99490	0.0:1.0:0.0:0.0	.	558	P13671	CO6_HUMAN	Y	558	ENSP00000338861:D558Y;ENSP00000263413:D558Y	ENSP00000263413:D558Y	D	-	1	0	C6	41196013	1.000000	0.71417	0.489000	0.27452	0.316000	0.28119	7.459000	0.80802	2.882000	0.98803	0.655000	0.94253	GAT		0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			83	306	1	0	5.02053e-37	1	6.02234e-37	83	306				
OR51B4	79339	broad.mit.edu	37	11	5322876	5322876	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5322876T>C	ENST00000380224.1	-	1	350	c.301A>G	c.(301-303)Att>Gtt	p.I101V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	101					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGAATGAATGAAGGATTGG	0.493																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(301-303)Att>Gtt		olfactory receptor, family 51, subfamily B, member 4							154.0	140.0	145.0					11																	5322876		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322876T>C	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.301A>G	11.37:g.5322876T>C	ENSP00000369573:p.Ile101Val					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.I101V	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	350	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	101					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.301A>G	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	T	6.257	0.415455	0.11870	.	.	ENSG00000183251	ENST00000380224	T	0.37058	1.22	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.26521	0.0648	L	0.31371	0.925	0.23227	N	0.998081	B	0.30824	0.296	B	0.33454	0.164	T	0.22906	-1.0203	10	0.66056	D	0.02	.	8.086	0.30773	0.1803:0.0:0.0:0.8196	.	101	Q9Y5P0	O51B4_HUMAN	V	101	ENSP00000369573:I101V	ENSP00000369573:I101V	I	-	1	0	OR51B4	5279452	0.744000	0.28250	0.465000	0.27155	0.004000	0.04260	0.779000	0.26746	1.806000	0.52798	0.533000	0.62120	ATT		0.493	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		57	328	0	0	0	1	0	57	328				
RINL	126432	broad.mit.edu	37	19	39360243	39360243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360243G>T	ENST00000591812.1	-	10	1530	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.L368I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.L368I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	482	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGATCTAAGAGCTCCATAAGA	0.632											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340740.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(1102-1104)Ctc>Atc		Ras and Rab interactor-like							61.0	68.0	66.0					19																	39360243		2203	4300	6503	SO:0001583	missense	126432						GTPase activator activity	g.chr19:39360243G>T	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1444C>A	19.37:g.39360243G>T	ENSP00000467107:p.Leu482Ile		OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	RINL_ENST00000591812.1_Missense_Mutation_p.L482I|RINL_ENST00000598904.1_Missense_Mutation_p.L368I	p.L368I	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			10	1489	-			368			VPS9.		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	c.1102C>A	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952248	0.73787	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.37235	1.21	5.27	4.17	0.49024	Vacuolar sorting protein 9 (2);	0.069635	0.56097	D	0.000024	T	0.43010	0.1228	L	0.57536	1.79	0.41040	D	0.985222	P;P	0.47484	0.896;0.747	P;P	0.49853	0.624;0.624	T	0.36456	-0.9747	10	0.52906	T	0.07	-23.169	11.7106	0.51623	0.0:0.0:0.8239:0.1761	.	482;368	B4DPG5;Q6ZS11	.;RINL_HUMAN	I	368	ENSP00000340369:L368I	ENSP00000340369:L368I	L	-	1	0	RINL	44052083	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.849000	0.48286	2.613000	0.88420	0.462000	0.41574	CTC		0.632	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		71	364	1	0	5.00936e-31	1	5.8875e-31	71	364				
RTN3	10313	broad.mit.edu	37	11	63517644	63517644	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63517644G>T	ENST00000377819.5	+	4	2866	c.2712G>T	c.(2710-2712)caG>caT	p.Q904H	RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H|RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	904	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGCTGTACAGAAGTCAGAAG	0.438																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(2710-2712)caG>caT		reticulon 3							81.0	62.0	68.0					11																	63517644		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63517644G>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2712G>T	11.37:g.63517644G>T	ENSP00000367050:p.Gln904His					RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H|RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H	p.Q904H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			4	2866	+			904			Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.2712G>T	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754684	0.69648	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000542238;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981;ENST00000354497	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.1	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.68593	2.085	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.981;0.996;0.999;0.986	T	0.65043	-0.6264	10	0.59425	D	0.04	-7.2178	10.9225	0.47174	0.0923:0.0:0.9077:0.0	.	108;792;904;108;108;885;127	B7Z4M0;F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;.;RTN3_HUMAN;.;.;.;.	H	108;127;134;904;885;792;108;108	ENSP00000340903:Q108H;ENSP00000348279:Q127H;ENSP00000437971:Q134H;ENSP00000367050:Q904H;ENSP00000344106:Q885H;ENSP00000442733:Q792H;ENSP00000440874:Q108H;ENSP00000346492:Q108H	ENSP00000344106:Q885H	Q	+	3	2	RTN3	63274220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.875000	0.63072	2.538000	0.85594	0.655000	0.94253	CAG		0.438	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		20	76	1	0	8.34094e-07	1	8.61956e-07	20	76				
CNTN1	1272	broad.mit.edu	37	12	41414236	41414236	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41414236C>T	ENST00000551295.2	+	20	2634	c.2517C>T	c.(2515-2517)agC>agT	p.S839S	CNTN1_ENST00000347616.1_Silent_p.S839S|CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	839	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGTGGAAAGCTATCAGGTAC	0.313																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2515-2517)agC>agT		contactin 1							43.0	46.0	45.0					12																	41414236		2203	4293	6496	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41414236C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2517C>T	12.37:g.41414236C>T						CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000347616.1_Silent_p.S839S|CNTN1_ENST00000550305.1_3'UTR	p.S839S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			20	2634	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	839			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2517C>T	CCDS8737.1																																																																																				0.313	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		31	151	0	0	0	1	0	31	151				
PRDM13	59336	broad.mit.edu	37	6	100057116	100057116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100057116G>T	ENST00000369215.4	+	3	635	c.330G>T	c.(328-330)tgG>tgT	p.W110C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	110	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TGACAGTGTGGTATTCTAACT	0.522																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(358-360)tgG>tgT		PR domain containing 13							73.0	79.0	77.0					6																	100057116		2124	4250	6374	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100057116G>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.330G>T	6.37:g.100057116G>T	ENSP00000358217:p.Trp110Cys					PRDM13_ENST00000369215.4_Missense_Mutation_p.W110C	p.W120C	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	621	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	110					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.360G>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509782	0.85282	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.85702	-2.02;-2.02	5.65	5.65	0.86999	SET domain (2);	0.000000	0.36893	N	0.002347	D	0.92828	0.7719	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93241	0.6626	10	0.87932	D	0	-6.7675	19.3826	0.94543	0.0:0.0:1.0:0.0	.	110	Q9H4Q3	PRD13_HUMAN	C	110;120	ENSP00000358217:W110C;ENSP00000358216:W120C	ENSP00000358216:W120C	W	+	3	0	PRDM13	100163837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.374000	0.97172	2.689000	0.91719	0.558000	0.71614	TGG		0.522	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			6	168	1	0	4.096e-09	1	4.30383e-09	6	168				
NLRC5	84166	broad.mit.edu	37	16	57116360	57116360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57116360G>A	ENST00000262510.6	+	49	5746	c.5521G>A	c.(5521-5523)Gcc>Acc	p.A1841T	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCGACATGGCCCAGCACCT	0.567																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5521-5523)Gcc>Acc		NLR family, CARD domain containing 5							105.0	94.0	98.0					16																	57116360		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57116360G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5521G>A	16.37:g.57116360G>A	ENSP00000262510:p.Ala1841Thr					NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T	p.A1841T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			49	5746	+		all_neural(199;0.225)	1841					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5521G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039218	0.75617	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.54479	0.57;0.57;0.57	4.47	4.47	0.54385	.	0.898467	0.09038	N	0.857661	T	0.67202	0.2868	M	0.78344	2.41	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.66192	-0.5985	10	0.56958	D	0.05	.	13.013	0.58741	0.0:0.0:1.0:0.0	.	1841	Q86WI3	NLRC5_HUMAN	T	1841;1812;1812	ENSP00000262510:A1841T;ENSP00000308886:A1812T;ENSP00000441727:A1812T	ENSP00000262510:A1841T	A	+	1	0	NLRC5	55673861	0.999000	0.42202	0.665000	0.29768	0.006000	0.05464	4.344000	0.59354	2.203000	0.70933	0.563000	0.77884	GCC		0.567	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		82	443	0	0	0	1	0	82	443				
NUP214	8021	broad.mit.edu	37	9	134073818	134073818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134073818C>A	ENST00000359428.5	+	29	5081	c.4937C>A	c.(4936-4938)gCt>gAt	p.A1646D	NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D|NUP214_ENST00000483497.2_Missense_Mutation_p.A472D|NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D			P35658	NU214_HUMAN	nucleoporin 214kDa	1646	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCCGTCTTTGCTCAGCCTCCT	0.597			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4936-4938)gCt>gAt		nucleoporin 214kDa							138.0	112.0	121.0					9																	134073818		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073818C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4937C>A	9.37:g.134073818C>A	ENSP00000352400:p.Ala1646Asp					NUP214_ENST00000483497.2_Missense_Mutation_p.A472D|NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D|NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D	p.A1646D			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	5081	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1646			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4937C>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057623	0.55325	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.47177	1.45;0.89;0.89;0.89;0.85	5.67	5.67	0.87782	.	0.356872	0.20531	N	0.090505	T	0.32194	0.0821	N	0.08118	0	0.09310	N	0.999999	P;B;P;B;B	0.37276	0.589;0.435;0.589;0.152;0.152	B;B;B;B;B	0.35770	0.21;0.153;0.153;0.051;0.051	T	0.31364	-0.9946	10	0.46703	T	0.11	-6.1278	18.3398	0.90302	0.0:1.0:0.0:0.0	.	472;1075;1240;1636;1646	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	D	1646;1636;1647;1625;1240;1075;472;423;423	ENSP00000352400:A1646D;ENSP00000396576:A1636D;ENSP00000405014:A1647D;ENSP00000436793:A472D;ENSP00000435364:A423D	ENSP00000352400:A1646D	A	+	2	0	NUP214	133063639	0.072000	0.21174	0.897000	0.35233	0.793000	0.44817	1.713000	0.37951	2.661000	0.90470	0.462000	0.41574	GCT		0.597	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		111	471	1	0	8.05857e-52	1	1.00114e-51	111	471				
KRBA2	124751	broad.mit.edu	37	17	8272507	8272507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8272507G>A	ENST00000331336.2	-	2	1429	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.P393L|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	475					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGAAGCTTCAGGAGTGGGATC	0.522																																						ENST00000396267.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(1177-1179)cCt>cTt		KRAB-A domain containing 2							138.0	123.0	128.0					17																	8272507		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8272507G>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1424C>T	17.37:g.8272507G>A	ENSP00000328017:p.Pro475Leu					KRBA2_ENST00000331336.2_Missense_Mutation_p.P475L|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA	p.P393L			Q6ZNG9	KRBA2_HUMAN			2	2009	-			475			Integrase catalytic.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.1178C>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	g	9.358	1.067243	0.20067	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.25749	1.87;1.78	2.56	1.59	0.23543	.	.	.	.	.	T	0.23210	0.0561	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27673	-1.0067	9	0.87932	D	0	.	5.3549	0.16055	0.1587:0.0:0.8413:0.0	.	475	Q6ZNG9	KRBA2_HUMAN	L	393;475	ENSP00000379565:P393L;ENSP00000328017:P475L	ENSP00000328017:P475L	P	-	2	0	KRBA2	8213232	0.485000	0.25972	0.002000	0.10522	0.042000	0.13812	0.667000	0.25112	0.662000	0.31006	0.650000	0.86243	CCT		0.522	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		85	380	0	0	0	1	0	85	380				
SYNGR4	23546	broad.mit.edu	37	19	48876806	48876806	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48876806G>A	ENST00000344846.2	+	3	376	c.126G>A	c.(124-126)ctG>ctA	p.L42L	SYNGR4_ENST00000601610.1_5'UTR|SYNGR4_ENST00000595322.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	42	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTCCCTGCTGACCGACGGCT	0.597																																						ENST00000344846.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(124-126)ctG>ctA		synaptogyrin 4							109.0	99.0	103.0					19																	48876806		2203	4300	6503	SO:0001819	synonymous_variant	23546					integral to membrane		g.chr19:48876806G>A	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.126G>A	19.37:g.48876806G>A						SYNGR4_ENST00000595322.1_5'UTR|SYNGR4_ENST00000601610.1_5'UTR	p.L42L	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	3	376	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	42			MARVEL.		Q3KP58	Silent	SNP	ENST00000344846.2	37	c.126G>A	CCDS12717.1																																																																																				0.597	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			89	378	0	0	0	1	0	89	378				
HSPA5	3309	broad.mit.edu	37	9	128001525	128001525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001525C>T	ENST00000324460.6	-	5	894	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	231					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	AGAGACACATCGAAGGTTCCG	0.488										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(691-693)Gat>Aat		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						57.0	61.0	60.0					9																	128001525		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001525C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.691G>A	9.37:g.128001525C>T	ENSP00000324173:p.Asp231Asn	Prostate(1;0.17)					p.D231N	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			5	894	-			231					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.691G>A	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581633	0.86748	.	.	ENSG00000044574	ENST00000324460;ENST00000401067	T	0.16324	2.35	4.36	4.36	0.52297	Heat shock protein 70, conserved site (1);	0.046186	0.85682	N	0.000000	T	0.45994	0.1370	H	0.99555	4.625	0.80722	D	1	P	0.39624	0.681	B	0.40228	0.323	T	0.70839	-0.4763	10	0.87932	D	0	-13.7685	15.8757	0.79159	0.0:1.0:0.0:0.0	.	231	P11021	GRP78_HUMAN	N	231	ENSP00000324173:D231N	ENSP00000324173:D231N	D	-	1	0	HSPA5	127041346	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	7.795000	0.85887	1.964000	0.57103	0.462000	0.41574	GAT		0.488	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			25	205	0	0	0	1	0	25	205				
KDM5B	10765	broad.mit.edu	37	1	202700144	202700144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202700144G>A	ENST00000367265.3	-	25	5233	c.4069C>T	c.(4069-4071)Cag>Tag	p.Q1357*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1357					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGATACCTGGAGCAGCTGG	0.458																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4069-4071)Cag>Tag		lysine (K)-specific demethylase 5B							93.0	84.0	87.0					1																	202700144		2203	4300	6503	SO:0001587	stop_gained	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202700144G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4069C>T	1.37:g.202700144G>A	ENSP00000356234:p.Gln1357*					KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	p.Q1357*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			25	5233	-			1357					O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	ENST00000367265.3	37	c.4069C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	48	14.013494	0.99775	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	6.14	6.14	0.99180	.	0.100675	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.1782	20.4548	0.99139	0.0:0.0:1.0:0.0	.	.	.	.	X	1357;1199;1393;1199	.	ENSP00000235790:Q1199X	Q	-	1	0	KDM5B	200966767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.937000	0.99478	0.650000	0.86243	CAG		0.458	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		46	220	0	0	0	1	0	46	220				
WDR37	22884	broad.mit.edu	37	10	1132252	1132252	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1132252G>C	ENST00000358220.1	+	7	703	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q|WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	187										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GTGGAGCATAGAGACAGGGAA	0.483																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(559-561)Gag>Cag		WD repeat domain 37							97.0	84.0	88.0					10																	1132252		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1132252G>C	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.559G>C	10.37:g.1132252G>C	ENSP00000350954:p.Glu187Gln					WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q|WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q	p.E187Q			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	7	703	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	187					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.559G>C	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850432	0.51270	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;D;T;D	0.81996	4.98;-1.56;4.98;-1.56	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047953	0.85682	N	0.000000	T	0.78874	0.4352	L	0.43598	1.365	0.80722	D	1	B;P;B	0.43477	0.361;0.808;0.098	B;B;B	0.39706	0.068;0.307;0.031	T	0.76953	-0.2768	10	0.26408	T	0.33	.	18.3995	0.90511	0.0:0.0:1.0:0.0	.	187;187;187	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	Q	187;187;187;154	ENSP00000350954:E187Q;ENSP00000370730:E187Q;ENSP00000263150:E187Q;ENSP00000404346:E154Q	ENSP00000263150:E187Q	E	+	1	0	WDR37	1122252	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	9.145000	0.94634	2.637000	0.89404	0.655000	0.94253	GAG		0.483	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		32	177	0	0	0	1	0	32	177				
THPO	7066	broad.mit.edu	37	3	184090519	184090519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184090519C>T	ENST00000204615.7	-	6	1058	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	THPO_ENST00000421442.2_Missense_Mutation_p.R243K|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.G278S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	282					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGGGAGCCTGTGTCTGAT	0.567																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(844-846)Ggc>Agc		thrombopoietin							197.0	210.0	205.0					3																	184090519		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090519C>T		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.844G>A	3.37:g.184090519C>T	ENSP00000204615:p.Gly282Ser					THPO_ENST00000421442.2_Missense_Mutation_p.R243K|THPO_ENST00000445696.2_Missense_Mutation_p.G278S|EIF2B5_ENST00000444495.1_Intron	p.G282S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1058	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		282					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.844G>A	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090015|3.090015	0.55968|0.55968	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.33654|0.37058	1.4;1.4|1.22	4.3|4.3	2.31|2.31	0.28768|0.28768	Four-helical cytokine, core (1);|.	0.571172|.	0.15959|.	N|.	0.236359|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B|B	0.25563|0.21606	0.129;0.079|0.058	B;B|B	0.20767|0.22601	0.031;0.014|0.04	T|T	0.19386|0.19386	-1.0307|-1.0307	10|9	0.45353|0.26408	T|T	0.12|0.33	-16.674|-16.674	5.3085|5.3085	0.15817|0.15817	0.0:0.7299:0.0:0.2701|0.0:0.7299:0.0:0.2701	.|.	278;282|243	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	S|K	282;278;243|243	ENSP00000204615:G282S;ENSP00000410763:G278S|ENSP00000411704:R243K	ENSP00000204615:G282S|ENSP00000411704:R243K	G|R	-|-	1|2	0|0	THPO|THPO	185573213|185573213	0.009000|0.009000	0.17119|0.17119	0.321000|0.321000	0.25320|0.25320	0.797000|0.797000	0.45037|0.45037	0.824000|0.824000	0.27379|0.27379	1.020000|1.020000	0.39573|0.39573	0.467000|0.467000	0.42956|0.42956	GGC|AGG		0.567	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		196	810	0	0	0	1	0	196	810				
TTN	7273	broad.mit.edu	37	2	179612581	179612581	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179612581G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.T4849I			Q8WZ42	TITIN_HUMAN	titin						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)			ATGAATGTTTGTACTTATTTG	0.403																																						ENST00000360870.5																			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.(14545-14547)aCa>aTa		titin							52.0	51.0	52.0					2																	179612581		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612581G>A	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.10360+5269C>T	2.37:g.179612581G>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.T4849I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14768	-			962					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.14546C>T		.	.	.	.	.	.	.	.	.	.	G	12.56	1.973168	0.34848	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57273	0.41	6.05	-0.825	0.10809	.	.	.	.	.	T	0.26448	0.0646	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17623	-1.0363	9	0.66056	D	0.02	.	2.4883	0.04604	0.1071:0.2171:0.3843:0.2915	.	4849	Q8WZ42-6	.	I	4849;163	ENSP00000354117:T4849I	ENSP00000304714:T163I	T	-	2	0	TTN	179320826	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.052000	0.13311	-0.995000	0.02519	ACA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		90	220	0	0	0	1	0	90	220				
SPRYD7	57213	broad.mit.edu	37	13	50489247	50489247	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50489247C>T	ENST00000361840.3	-	5	647	c.543G>A	c.(541-543)acG>acA	p.T181T	SPRYD7_ENST00000378195.2_Silent_p.T142T	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	181	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAGGTGGAGGCGTATGATAAA	0.284																																						ENST00000378195.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(424-426)acG>acA		SPRY domain containing 7							51.0	54.0	53.0					13																	50489247		2203	4296	6499	SO:0001819	synonymous_variant	57213							g.chr13:50489247C>T	AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"""chromosome 13 open reading frame 1"""	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.543G>A	13.37:g.50489247C>T						SPRYD7_ENST00000361840.3_Silent_p.T181T	p.T142T	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN			4	680	-			181			B30.2/SPRY.		A8K3G1|O60648|Q8TBG8|Q96T69	Silent	SNP	ENST00000361840.3	37	c.426G>A	CCDS9422.1																																																																																				0.284	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044942.2	NM_020456		38	234	0	0	0	1	0	38	234				
FAHD1	81889	broad.mit.edu	37	16	1877337	1877337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1877337G>T	ENST00000427358.2	+	1	113	c.107G>T	c.(106-108)aGc>aTc	p.S36I	HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000397356.3_5'Flank|FAHD1_ENST00000382666.4_Missense_Mutation_p.S36I|HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I|HAGH_ENST00000397353.2_5'Flank	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	36						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GAGATGCGCAGCGCGGTGTTG	0.647																																						ENST00000382666.4																			0				NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						c.(106-108)aGc>aTc		fumarylacetoacetate hydrolase domain containing 1							65.0	48.0	54.0					16																	1877337		2199	4300	6499	SO:0001583	missense	81889					mitochondrion	hydrolase activity|metal ion binding|protein binding	g.chr16:1877337G>T	BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 36"""	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.107G>T	16.37:g.1877337G>T	ENSP00000398053:p.Ser36Ile					FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I|FAHD1_ENST00000427358.2_Missense_Mutation_p.S36I	p.S36I	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN			1	370	+			36					B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Missense_Mutation	SNP	ENST00000427358.2	37	c.107G>T	CCDS10448.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633616	0.67015	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	T;T;T	0.39997	1.05;1.05;1.05	4.71	4.71	0.59529	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.111145	0.64402	D	0.000012	T	0.30198	0.0757	L	0.28400	0.85	0.39297	D	0.964838	B;B;B	0.30973	0.108;0.302;0.131	B;B;B	0.29663	0.037;0.105;0.063	T	0.25710	-1.0124	10	0.62326	D	0.03	.	10.0609	0.42275	0.0932:0.0:0.9068:0.0	.	36;36;36	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	I	36	ENSP00000372114:S36I;ENSP00000372112:S36I;ENSP00000398053:S36I	ENSP00000372112:S36I	S	+	2	0	FAHD1	1817338	1.000000	0.71417	0.915000	0.36163	0.984000	0.73092	5.125000	0.64715	2.458000	0.83093	0.655000	0.94253	AGC		0.647	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250550.2	NM_001018104		55	239	1	0	1.86277e-20	1	2.08787e-20	55	239				
CEPT1	10390	broad.mit.edu	37	1	111690517	111690517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111690517C>T	ENST00000545121.1	+	2	389	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	61					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AAGTGCTGGACGGTCCCTGCT	0.448																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(181-183)Cgg>Tgg		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						158.0	143.0	148.0					1																	111690517		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111690517C>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.181C>T	1.37:g.111690517C>T	ENSP00000441980:p.Arg61Trp					CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	p.R61W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	2	389	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	61					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.181C>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319614	0.81469	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.47869	0.83;0.83	5.3	4.38	0.52667	.	0.059906	0.64402	D	0.000002	T	0.47857	0.1468	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.71674	0.998;0.96	P;P	0.59115	0.852;0.586	T	0.54057	-0.8350	10	0.66056	D	0.02	-23.4159	10.9488	0.47317	0.3405:0.6595:0.0:0.0	.	61;61	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	W	61	ENSP00000441980:R61W;ENSP00000349696:R61W	ENSP00000349696:R61W	R	+	1	2	CEPT1	111492040	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.208000	0.32345	1.443000	0.47586	0.655000	0.94253	CGG		0.448	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		114	422	0	0	0	1	0	114	422				
TWF2	11344	broad.mit.edu	37	3	52265189	52265189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52265189G>A	ENST00000305533.5	-	5	680	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TLR9_ENST00000494383.1_Silent_p.P6P|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	146					barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGAGGTCAGCGGGGCAGGTGC	0.617																																						ENST00000305533.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(436-438)cCg>cTg		twinfilin actin-binding protein 2							87.0	92.0	90.0					3																	52265189		2203	4300	6503	SO:0001583	missense	11344							g.chr3:52265189G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.437C>T	3.37:g.52265189G>A	ENSP00000303908:p.Pro146Leu					TLR9_ENST00000494383.1_Silent_p.P6P|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L	p.P146L	NM_007284.3	NP_009215.1				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	680	-								Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.437C>T	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244418	0.59103	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.31510	1.49;1.49	5.41	5.41	0.78517	.	.	.	.	.	T	0.59649	0.2209	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61422	-0.7066	9	0.35671	T	0.21	.	14.4189	0.67171	0.0733:0.0:0.9267:0.0	.	146;146	D6RG15;Q6IBS0	.;TWF2_HUMAN	L	146	ENSP00000303908:P146L;ENSP00000426464:P146L	ENSP00000303908:P146L	P	-	2	0	TWF2	52240229	1.000000	0.71417	0.953000	0.39169	0.107000	0.19398	5.350000	0.66016	2.527000	0.85204	0.448000	0.29417	CCG		0.617	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			95	578	0	0	0	1	0	95	578				
MTMR4	9110	broad.mit.edu	37	17	56572543	56572543	+	Missense_Mutation	SNP	G	G	A	rs559247649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56572543G>A	ENST00000323456.5	-	16	3084	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	987					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACTTGCTTTGGATGACTGGA	0.507																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(2959-2961)cCa>cTa		myotubularin related protein 4							193.0	186.0	188.0					17																	56572543		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572543G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2960C>T	17.37:g.56572543G>A	ENSP00000325285:p.Pro987Leu					MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	p.P987L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			16	3084	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		987					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.2960C>T	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656254	0.29425	.	.	ENSG00000108389	ENST00000323456	D	0.92647	-3.08	5.58	5.58	0.84498	.	0.804396	0.11951	N	0.513693	D	0.84552	0.5497	N	0.16478	0.41	0.39397	D	0.966519	B	0.02656	0.0	B	0.04013	0.001	T	0.76567	-0.2912	10	0.15499	T	0.54	.	11.8846	0.52594	0.0885:0.0:0.9115:0.0	.	987	Q9NYA4	MTMR4_HUMAN	L	987	ENSP00000325285:P987L	ENSP00000325285:P987L	P	-	2	0	MTMR4	53927542	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.504000	0.53347	2.627000	0.88993	0.555000	0.69702	CCA		0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		161	700	0	0	0	1	0	161	700				
NTNG2	84628	broad.mit.edu	37	9	135114495	135114495	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135114495C>T	ENST00000393229.3	+	6	1835	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	353	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCAGACTGCGAATGCTACG	0.587																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1057-1059)tgC>tgT		netrin G2							98.0	82.0	87.0					9																	135114495		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135114495C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1059C>T	9.37:g.135114495C>T						NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	p.C353C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	6	1835	+			353			Laminin EGF-like 2.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.1059C>T	CCDS6946.1																																																																																				0.587	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		53	309	0	0	0	1	0	53	309				
FBXL4	26235	broad.mit.edu	37	6	99347191	99347191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347191T>C	ENST00000369244.2	-	7	1698	c.1270A>G	c.(1270-1272)Aag>Gag	p.K424E	FBXL4_ENST00000229971.1_Missense_Mutation_p.K424E	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	424					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTGCATAACTTGGCAATGTGG	0.383																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1270-1272)Aag>Gag		F-box and leucine-rich repeat protein 4							164.0	148.0	153.0					6																	99347191		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99347191T>C	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1270A>G	6.37:g.99347191T>C	ENSP00000358247:p.Lys424Glu					FBXL4_ENST00000229971.1_Missense_Mutation_p.K424E	p.K424E			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	7	1698	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	424					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1270A>G	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103515	0.76983	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.17691	2.26;2.26	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	L	0.51853	1.615	0.58432	D	0.999999	D;P	0.76494	0.999;0.63	D;B	0.80764	0.994;0.121	T	0.06391	-1.0829	10	0.17832	T	0.49	.	10.4819	0.44698	0.145:0.0:0.0:0.855	.	424;424	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	E	424	ENSP00000358247:K424E;ENSP00000229971:K424E	ENSP00000229971:K424E	K	-	1	0	FBXL4	99453912	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.829000	0.69316	2.007000	0.58848	0.460000	0.39030	AAG		0.383	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			13	623	0	0	0	1	0	13	623				
TNNI3	7137	broad.mit.edu	37	19	55663261	55663261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663261G>A	ENST00000344887.5	-	8	716	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000592920.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	192			R -> H (in RCM1). {ECO:0000269|PubMed:12531876}.		cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGTTCTTGCGCCAGTCTCCC	0.572																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(574-576)Cgc>Tgc		troponin I type 3 (cardiac)							117.0	119.0	119.0					19																	55663261		1976	4158	6134	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55663261G>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.574C>T	19.37:g.55663261G>A	ENSP00000341838:p.Arg192Cys					TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C	p.R192C	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	8	716	-			192		R -> H (in RCM1).				Missense_Mutation	SNP	ENST00000344887.5	37	c.574C>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635841	0.67130	.	.	ENSG00000129991	ENST00000344887	D	0.98120	-4.73	4.46	3.3	0.37823	.	0.000000	0.64402	D	0.000017	D	0.98460	0.9487	M	0.84433	2.695	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.98378	1.0557	10	0.87932	D	0	-7.0285	11.1792	0.48618	0.0:0.0:0.7079:0.2921	.	192	P19429	TNNI3_HUMAN	C	192	ENSP00000341838:R192C	ENSP00000341838:R192C	R	-	1	0	TNNI3	60355073	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.153000	0.16323	2.213000	0.71641	0.491000	0.48974	CGC		0.572	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			52	192	0	0	0	1	0	52	192				
ABL1	25	broad.mit.edu	37	9	133760790	133760790	+	Missense_Mutation	SNP	C	C	T	rs367600262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760790C>T	ENST00000318560.5	+	11	3494	c.3113C>T	c.(3112-3114)gCg>gTg	p.A1038V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1038	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGCACCGAGGCGCTGTGCCTC	0.622			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		15932	0.0		0.0	False		,,,				2504	0.0					ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(3112-3114)gCg>gTg		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	51.0	55.0	53.0		3113,3170	5.3	1.0	9		53	0,8600		0,0,4300	no	missense,missense	ABL1	NM_005157.4,NM_007313.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1038/1131,1057/1150	133760790	1,13005	2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760790C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3113C>T	9.37:g.133760790C>T	ENSP00000323315:p.Ala1038Val						p.A1038V	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3494	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	1038			F-actin-binding.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.3113C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430541	0.62844	2.27E-4	0.0	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.29655	1.56;1.56	5.26	5.26	0.73747	F-actin binding (2);	0.242574	0.42294	D	0.000736	T	0.23532	0.0569	L	0.36672	1.1	0.40595	D	0.981528	P;P	0.49862	0.929;0.929	B;B	0.41271	0.352;0.352	T	0.03750	-1.1007	10	0.14252	T	0.57	.	13.5841	0.61919	0.0:0.8444:0.1556:0.0	.	1038;1075	P00519;Q59FK4	ABL1_HUMAN;.	V	853;1057;1038	ENSP00000361423:A1057V;ENSP00000323315:A1038V	ENSP00000323315:A1038V	A	+	2	0	ABL1	132750611	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.145000	0.50623	2.457000	0.83068	0.555000	0.69702	GCG		0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		82	376	0	0	0	1	0	82	376				
LAMC3	10319	broad.mit.edu	37	9	133961019	133961019	+	Missense_Mutation	SNP	C	C	T	rs376347098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133961019C>T	ENST00000361069.4	+	25	4272	c.4139C>T	c.(4138-4140)gCg>gTg	p.A1380V	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1380	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.A1380V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCAAGCAGGCGGAGAGGATG	0.597																																						ENST00000361069.4																			1	Substitution - Missense(1)	p.A1380V(1)	prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(4138-4140)gCg>gTg		laminin, gamma 3							100.0	94.0	96.0					9																	133961019		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133961019C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4139C>T	9.37:g.133961019C>T	ENSP00000354360:p.Ala1380Val					LAMC3_ENST00000480883.1_Intron	p.A1380V	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	25	4272	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1380			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.4139C>T	CCDS6938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.87|14.87	2.663742|2.663742	0.47572|0.47572	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000361069;ENST00000355048|ENST00000355452	T|.	0.38560|.	1.13|.	5.11|5.11	0.869|0.869	0.19096|0.19096	.|.	0.394550|.	0.25750|.	N|.	0.028548|.	T|T	0.52533|0.52533	0.1740|0.1740	M|M	0.74881|0.74881	2.28|2.28	0.26272|0.26272	N|N	0.978417|0.978417	B;P|.	0.41345|.	0.189;0.746|.	B;B|.	0.36504|.	0.017;0.226|.	T|T	0.46789|0.46789	-0.9166|-0.9166	10|5	0.54805|.	T|.	0.06|.	.|.	7.328|7.328	0.26566|0.26566	0.0:0.58:0.0:0.42|0.0:0.58:0.0:0.42	.|.	61;1380|.	Q9UF61;Q9Y6N6|.	.;LAMC3_HUMAN|.	V|W	1380;1392|62	ENSP00000354360:A1380V|.	ENSP00000347156:A1392V|.	A|R	+|+	2|1	0|2	LAMC3|LAMC3	132950840|132950840	0.085000|0.085000	0.21516|0.21516	0.976000|0.976000	0.42696|0.42696	0.820000|0.820000	0.46376|0.46376	0.108000|0.108000	0.15396|0.15396	-0.035000|-0.035000	0.13691|0.13691	-0.224000|-0.224000	0.12420|0.12420	GCG|CGG		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		44	278	0	0	0	1	0	44	278				
TEX13A	56157	broad.mit.edu	37	X	104464816	104464816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464816C>A	ENST00000413579.1	-	2	377	c.266G>T	c.(265-267)aGg>aTg	p.R89M	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R89M|TEX13A_ENST00000372578.3_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	89							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCACCGCACCCTGTGCCTTTG	0.632																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(265-267)aGg>aTg		testis expressed 13A							32.0	32.0	32.0					X																	104464816		2203	4292	6495	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464816C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.266G>T	X.37:g.104464816C>A	ENSP00000399753:p.Arg89Met					TEX13A_ENST00000413579.1_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R89M	p.R89M	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			2	377	-			89					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.266G>T		.	.	.	.	.	.	.	.	.	.	C	10.74	1.436760	0.25900	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	2.24	0.28232	.	0.000000	0.33916	N	0.004425	T	0.61837	0.2379	.	.	.	0.58432	D	0.99999	D;D	0.62365	0.991;0.991	P;P	0.55785	0.784;0.784	T	0.60146	-0.7320	8	0.49607	T	0.09	.	5.6601	0.17664	0.0:0.8436:0.0:0.1564	.	89;89	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	89	.	ENSP00000361656:R89M	R	-	2	0	TEX13A	104351472	0.422000	0.25473	0.805000	0.32314	0.014000	0.08584	0.801000	0.27055	0.716000	0.32124	-0.315000	0.08773	AGG		0.632	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		6	209	1	0	0.00116845	1	0.00118049	6	209				
ANKRD54	129138	broad.mit.edu	37	22	38228671	38228671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38228671G>A	ENST00000215941.4	-	7	993	c.801C>T	c.(799-801)cgC>cgT	p.R267R	ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000406423.1_Silent_p.R147R|ANKRD54_ENST00000609454.1_Silent_p.R74R	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	267					nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					TCATCTGCAGGCGGGTGCAGA	0.617																																						ENST00000215941.4																			0				lung(1)	1						c.(799-801)cgC>cgT		ankyrin repeat domain 54							85.0	76.0	79.0					22																	38228671		2203	4300	6503	SO:0001819	synonymous_variant	129138							g.chr22:38228671G>A	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.801C>T	22.37:g.38228671G>A						ANKRD54_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Silent_p.R147R	p.R267R	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN			7	993	-	Melanoma(58;0.045)		267					Q6ZSB1|Q9UGV1	Silent	SNP	ENST00000215941.4	37	c.801C>T	CCDS13959.1	.	.	.	.	.	.	.	.	.	.	G	1.387	-0.581820	0.03827	.	.	ENSG00000100124	ENST00000458278	.	.	.	5.59	0.318	0.15867	.	.	.	.	.	T	0.51346	0.1669	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37686	-0.9695	4	.	.	.	-2.3947	5.602	0.17359	0.1421:0.3334:0.4339:0.0905	.	.	.	.	V	183	.	.	A	-	2	0	ANKRD54	36558617	1.000000	0.71417	0.993000	0.49108	0.085000	0.17905	2.009000	0.40903	0.025000	0.15241	-0.813000	0.03139	GCC		0.617	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797		9	373	0	0	0	1	0	9	373				
ZNF551	90233	broad.mit.edu	37	19	58198782	58198782	+	Missense_Mutation	SNP	G	G	A	rs372448156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58198782G>A	ENST00000282296.5	+	3	1324	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	ZNF551_ENST00000356715.4_Missense_Mutation_p.R364Q|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGCCTTTTTCGACACCAGAGA	0.438																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1138-1140)cGa>cAa		zinc finger protein 551		G	GLN/ARG	0,4406		0,0,2203	75.0	76.0	76.0		1091	-4.9	0.0	19		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF551	NM_138347.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	364/655	58198782	1,13005	2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198782G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1139G>A	19.37:g.58198782G>A	ENSP00000282296:p.Arg380Gln					ZNF551_ENST00000356715.4_Missense_Mutation_p.R364Q|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	p.R380Q	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1324	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	380					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1139G>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.182|4.182	0.032376|0.032376	0.08101|0.08101	0.0|0.0	1.16E-4|1.16E-4	ENSG00000204519|ENSG00000228006	ENST00000356715;ENST00000282296;ENST00000359821|ENST00000541705	.|.	.|.	.|.	2.43|2.43	-4.86|-4.86	0.03132|0.03132	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|2.890370	.|0.02186	.|N	.|0.060881	T|T	0.26774|0.26774	0.0655|0.0655	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	B|.	0.26002|.	0.139|.	B|.	0.17433|.	0.018|.	T|T	0.29397|0.29397	-1.0013|-1.0013	8|7	0.05436|0.02654	T|T	0.98|1	.|.	2.0805|2.0805	0.03634|0.03634	0.4024:0.1262:0.3453:0.1261|0.4024:0.1262:0.3453:0.1261	.|.	380|.	Q7Z340|.	ZN551_HUMAN|.	Q|L	380;364;163|208	.|.	ENSP00000282296:R364Q|ENSP00000437781:S208L	R|S	+|-	2|2	0|0	ZNF551|AC004017.1	62890594|62890594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-8.977000|-8.977000	0.00015|0.00015	-1.382000|-1.382000	0.02109|0.02109	-0.367000|-0.367000	0.07326|0.07326	CGA|TCG		0.438	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		77	368	0	0	0	1	0	77	368				
TPCN2	219931	broad.mit.edu	37	11	68830434	68830434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68830434G>A	ENST00000294309.3	+	6	730	c.629G>A	c.(628-630)cGc>cAc	p.R210H	TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	210					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAATGCATCCGCTGGTCGCTG	0.632																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(628-630)cGc>cAc		two pore segment channel 2							109.0	106.0	107.0					11																	68830434		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68830434G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.629G>A	11.37:g.68830434G>A	ENSP00000294309:p.Arg210His					TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H	p.R210H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	730	+			210					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.629G>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	g	11.67	1.707623	0.30322	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98419	-4.92;-4.92	4.59	2.37	0.29283	Ion transport (1);	0.185451	0.43260	N	0.000583	D	0.97961	0.9329	M	0.73962	2.25	0.19575	N	0.999961	D;D;B	0.76494	0.999;0.998;0.06	D;D;B	0.66979	0.948;0.912;0.038	D	0.92929	0.6362	10	0.19147	T	0.46	-20.9359	6.095	0.20015	0.4607:0.0:0.5393:0.0	.	210;210;125	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	H	140;210;125;210	ENSP00000294309:R210H;ENSP00000445551:R210H	ENSP00000294309:R210H	R	+	2	0	TPCN2	68587010	1.000000	0.71417	0.007000	0.13788	0.069000	0.16628	2.955000	0.49121	0.395000	0.25257	-1.194000	0.01681	CGC		0.632	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		176	709	0	0	0	1	0	176	709				
FBXO24	26261	broad.mit.edu	37	7	100198522	100198522	+	Nonstop_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100198522A>C	ENST00000241071.6	+	10	2065	c.1743A>C	c.(1741-1743)taA>taC	p.*581Y	FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	0					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGAGACCTAATCCCCCTCAT	0.632																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(1741-1743)taA>taC		F-box protein 24							34.0	35.0	35.0					7																	100198522		2202	4294	6496	SO:0001578	stop_lost	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100198522A>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1743A>C	7.37:g.100198522A>C	ENSP00000241071:p.*581Tyrext*5					FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA	p.*581Y	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			10	2065	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		0					A4D2D4|B4DX91|B4DY42|Q9H0G1	Nonstop_Mutation	SNP	ENST00000241071.6	37	c.1743A>C	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	a	3.521	-0.097685	0.07010	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2759	0.20981	0.8892:0.0:0.1108:0.0	.	.	.	.	Y	581;569;619	.	.	X	+	3	2	FBXO24	100036458	0.991000	0.36638	0.605000	0.28930	0.024000	0.10985	2.719000	0.47244	1.779000	0.52309	0.373000	0.22412	TAA		0.632	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			20	405	0	0	0	1	0	20	405				
TTN	7273	broad.mit.edu	37	2	179430078	179430078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430078G>A	ENST00000591111.1	-	276	76082	c.75858C>T	c.(75856-75858)aaC>aaT	p.N25286N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.N26927N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25286	Ig-like 124.				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)			TTTCTTCAACGTTTACTCTTG	0.393																																						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.(80779-80781)aaC>aaT		titin							163.0	152.0	156.0					2																	179430078		1854	4099	5953	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430078G>A	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.75858C>T	2.37:g.179430078G>A						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.N26927N	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)		326	81005	-			25286			Fibronectin type-III 96.		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.80781C>T																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		190	450	0	0	0	1	0	190	450				
SEPT5	5413	broad.mit.edu	37	22	19708076	19708076	+	Missense_Mutation	SNP	C	C	T	rs201668611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19708076C>T	ENST00000455784.2	+	7	627	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	SEPT5_ENST00000438754.2_Missense_Mutation_p.R177W|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W|SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	168	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGGCAGGCTGCGGCCAGTGGA	0.607																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(529-531)Cgg>Tgg		septin 5							52.0	43.0	46.0					22																	19708076		2203	4300	6503	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19708076C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.502C>T	22.37:g.19708076C>T	ENSP00000391311:p.Arg168Trp					SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W|SEPT5_ENST00000455784.2_Missense_Mutation_p.R168W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W	p.R177W	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			6	809	+	Colorectal(54;0.0993)		168					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.529C>T	CCDS13764.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.99	2.102444	0.37145	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	2.97	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	H	0.95712	3.71	0.80722	D	1	P	0.43094	0.799	P	0.49332	0.607	T	0.72090	-0.4395	10	0.87932	D	0	.	7.2471	0.26127	0.4087:0.453:0.1383:0.0	.	168	Q99719	SEPT5_HUMAN	W	168;168;139;121;206;177;177;121	ENSP00000391311:R168W;ENSP00000384535:R168W;ENSP00000408678:R121W;ENSP00000414488:R206W;ENSP00000372515:R177W;ENSP00000394541:R177W;ENSP00000378541:R121W	ENSP00000372515:R177W	R	+	1	2	SEPT5	18088076	0.098000	0.21812	0.999000	0.59377	0.695000	0.40330	0.445000	0.21677	0.743000	0.32719	0.313000	0.20887	CGG		0.607	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		70	250	0	0	0	1	0	70	250				
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	G	A	rs566452971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882502G>A	ENST00000544000.1	-	4	1238	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Silent_p.G277G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18509	0.0		0.0	False		,,,				2504	0.0					ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(829-831)ggC>ggT		heterogeneous nuclear ribonucleoprotein F							58.0	51.0	53.0					10																	43882502		2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882502G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.831C>T	10.37:g.43882502G>A						HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G	p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1317	-			277					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.831C>T	CCDS7204.1																																																																																				0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			40	173	0	0	0	1	0	40	173				
LRRK1	79705	broad.mit.edu	37	15	101602803	101602803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101602803C>A	ENST00000388948.3	+	31	5181	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.L1605I	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCTACACCCTCAAGGGCAT	0.532																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4813-4815)Ctc>Atc		leucine-rich repeat kinase 1							133.0	138.0	136.0					15																	101602803		1996	4164	6160	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101602803C>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4822C>A	15.37:g.101602803C>A	ENSP00000373600:p.Leu1608Ile					RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.L1608I	p.L1605I			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		32	5213	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1608						Missense_Mutation	SNP	ENST00000388948.3	37	c.4813C>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931718	0.73442	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72505	-0.66;-0.66	5.29	4.26	0.50523	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.77698	0.4169	M	0.64997	1.995	0.38501	D	0.948239	D	0.76494	0.999	D	0.63793	0.918	T	0.79245	-0.1883	10	0.51188	T	0.08	.	9.1937	0.37215	0.0:0.8023:0.0:0.1977	.	1608	Q38SD2	LRRK1_HUMAN	I	1608;1605;299;162	ENSP00000373600:L1608I;ENSP00000284395:L1605I	ENSP00000284395:L1605I	L	+	1	0	LRRK1	99420326	0.990000	0.36364	1.000000	0.80357	0.921000	0.55340	2.479000	0.45197	2.484000	0.83849	0.491000	0.48974	CTC		0.532	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		66	327	1	0	1.42676e-28	1	1.66098e-28	66	327				
PPM1L	151742	broad.mit.edu	37	3	160474238	160474238	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160474238A>G	ENST00000498165.1	+	1	243	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	PPM1L_ENST00000497343.1_Missense_Mutation_p.I48V|RP11-16N11.2_ENST00000566372.1_RNA	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	48					MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGTGAAGACCATCGTGAAGTC	0.567																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(142-144)Atc>Gtc		protein phosphatase, Mg2+/Mn2+ dependent, 1L							133.0	119.0	124.0					3																	160474238		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160474238A>G	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.142A>G	3.37:g.160474238A>G	ENSP00000417659:p.Ile48Val					PPM1L_ENST00000497343.1_Missense_Mutation_p.I48V	p.I48V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		1	243	+			48					Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.142A>G	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917566	0.52546	.	.	ENSG00000163590	ENST00000497343;ENST00000498165	T	0.22336	1.96	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14559	-1.0468	10	0.14252	T	0.57	.	13.3993	0.60872	1.0:0.0:0.0:0.0	.	48	Q5SGD2	PPM1L_HUMAN	V	48	ENSP00000417659:I48V	ENSP00000420354:I48V	I	+	1	0	PPM1L	161956932	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.668000	0.91158	1.775000	0.52247	0.402000	0.26972	ATC		0.567	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		9	354	0	0	0	1	0	9	354				
SCUBE1	80274	broad.mit.edu	37	22	43687179	43687179	+	Silent	SNP	G	G	A	rs148070276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687179G>A	ENST00000360835.4	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	119	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(355-357)gaC>gaT		signal peptide, CUB domain, EGF-like 1		G		0,4406		0,0,2203	88.0	62.0	71.0		357	-9.3	0.2	22	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCUBE1	NM_173050.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/989	43687179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43687179G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.357C>T	22.37:g.43687179G>A						SCUBE1_ENST00000290460.7_Silent_p.D119D	p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			4	483	-		all_neural(38;0.0414)|Ovarian(80;0.07)	119			EGF-like 3; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.357C>T	CCDS14048.1																																																																																				0.542	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		38	158	0	0	0	1	0	38	158				
KMT2C	58508	broad.mit.edu	37	7	151932919	151932919	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151932919C>A	ENST00000262189.6	-	16	2970	c.2752G>T	c.(2752-2754)Gct>Tct	p.A918S	KMT2C_ENST00000355193.2_Missense_Mutation_p.A918S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	918					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AATACAACAGCTCCGATTCCA	0.473																																						ENST00000355193.2																			0											c.(2752-2754)Gct>Tct		lysine (K)-specific methyltransferase 2C							77.0	70.0	72.0					7																	151932919		2202	4284	6486	SO:0001583	missense	58508							g.chr7:151932919C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2752G>T	7.37:g.151932919C>A	ENSP00000262189:p.Ala918Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.A918S	p.A918S							16	2970	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2752G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.415682|1.415682	0.25552|0.25552	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.83163|.	-1.69;-1.69|.	5.0|5.0	3.17|3.17	0.36434|0.36434	.|.	0.330195|.	0.21571|.	N|.	0.072402|.	T|T	0.25121|0.25121	0.0610|0.0610	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.21071|.	0.051|.	B|.	0.17433|.	0.018|.	T|T	0.04153|0.04153	-1.0973|-1.0973	10|5	0.14252|.	T|.	0.57|.	.|.	4.931|4.931	0.13917|0.13917	0.1555:0.6069:0.0:0.2376|0.1555:0.6069:0.0:0.2376	.|.	918|.	Q8NEZ4|.	MLL3_HUMAN|.	S|I	918|73	ENSP00000262189:A918S;ENSP00000347325:A918S|.	ENSP00000262189:A918S|.	A|S	-|-	1|2	0|0	MLL3|MLL3	151563852|151563852	0.969000|0.969000	0.33509|0.33509	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	0.224000|0.224000	0.17738|0.17738	1.241000|1.241000	0.43820|0.43820	0.585000|0.585000	0.79938|0.79938	GCT|AGC		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			37	1063	1	0	6.50621e-10	1	6.87419e-10	37	1063				
ADCY9	115	broad.mit.edu	37	16	4164631	4164631	+	Silent	SNP	C	C	T	rs148841917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4164631C>T	ENST00000294016.3	-	2	1351	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	271					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCTCCGGGCGAGGGGAAGC	0.617													C|||	12	0.00239617	0.0091	0.0	5008	,	,		17919	0.0		0.0	False		,,,				2504	0.0					ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(811-813)tcG>tcA		adenylate cyclase 9		C		25,4369		0,25,2172	29.0	29.0	29.0		813	-4.5	0.0	16	dbSNP_134	29	0,8598		0,0,4299	no	coding-synonymous	ADCY9	NM_001116.3		0,25,6471	TT,TC,CC		0.0,0.569,0.1924		271/1354	4164631	25,12967	2197	4299	6496	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164631C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.813G>A	16.37:g.4164631C>T							p.S271S	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1351	-			271					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.813G>A	CCDS32382.1																																																																																				0.617	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			68	272	0	0	0	1	0	68	272				
LCE1D	353134	broad.mit.edu	37	1	152770417	152770417	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770417C>A	ENST00000326233.6	+	2	190	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	49	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTGGCTCCAGCTCTG	0.672																																						ENST00000326233.6																			0				large_intestine(1)	1						c.(145-147)ggC>ggA		late cornified envelope 1D							31.0	31.0	31.0					1																	152770417		2159	4152	6311	SO:0001819	synonymous_variant	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770417C>A		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.147C>A	1.37:g.152770417C>A							p.G49G	NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	190	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		49			Cys-rich.			Silent	SNP	ENST00000326233.6	37	c.147C>A	CCDS1025.1																																																																																				0.672	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		108	221	1	0	2.23157e-60	1	2.80682e-60	108	221				
CCT2	10576	broad.mit.edu	37	12	69991040	69991040	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991040T>G	ENST00000299300.6	+	11	1275	c.1087T>G	c.(1087-1089)Tct>Gct	p.S363A	CCT2_ENST00000543146.2_Missense_Mutation_p.S316A|CCT2_ENST00000544368.2_Missense_Mutation_p.S363A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	363					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CATTCACTTTTCTGGGGTTGC	0.408																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(946-948)Tct>Gct		chaperonin containing TCP1, subunit 2 (beta)							250.0	226.0	234.0					12																	69991040		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69991040T>G	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1087T>G	12.37:g.69991040T>G	ENSP00000299300:p.Ser363Ala					CCT2_ENST00000299300.6_Missense_Mutation_p.S363A|CCT2_ENST00000544368.2_Missense_Mutation_p.S363A	p.S316A	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		11	1428	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		363					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.946T>G	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964249	0.92791	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.67865	-0.29;-0.29;-0.29	6.16	6.16	0.99307	.	0.154543	0.64402	D	0.000012	D	0.85062	0.5611	M	0.93898	3.47	0.58432	D	0.999999	P;P	0.43094	0.799;0.69	P;P	0.57776	0.827;0.786	D	0.87706	0.2563	9	.	.	.	-28.6863	15.3771	0.74615	0.0:0.0:0.0:1.0	.	363;363	F5GWF6;P78371	.;TCPB_HUMAN	A	363;363;316	ENSP00000299300:S363A;ENSP00000441847:S363A;ENSP00000445471:S316A	.	S	+	1	0	CCT2	68277307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.692000	0.84203	2.367000	0.80283	0.528000	0.53228	TCT		0.408	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		146	682	0	0	0	1	0	146	682				
ANKRD17	26057	broad.mit.edu	37	4	74124188	74124188	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124188C>T	ENST00000358602.4	-	1	314	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ANKRD17_ENST00000330838.6_Silent_p.P66P|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	66					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGCTGCGGCGGCTTCTTCT	0.687																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(196-198)ccG>ccA		ankyrin repeat domain 17							18.0	18.0	18.0					4																	74124188		2200	4278	6478	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124188C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.198G>A	4.37:g.74124188C>T						ANKRD17_ENST00000330838.6_Silent_p.P66P	p.P66P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	314	-	Breast(15;0.000295)		66					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.198G>A	CCDS34004.1																																																																																				0.687	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		19	79	0	0	0	1	0	19	79				
SNX33	257364	broad.mit.edu	37	15	75942569	75942569	+	Missense_Mutation	SNP	G	G	A	rs574554026	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942569G>A	ENST00000308527.5	+	1	2323	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	376	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGACGTGGAAGATCGCGTGGA	0.592													G|||	13	0.00259585	0.0	0.0	5008	,	,		21564	0.0		0.0	False		,,,				2504	0.0133					ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1126-1128)Gat>Aat		sorting nexin 33							73.0	67.0	69.0					15																	75942569		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942569G>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1126G>A	15.37:g.75942569G>A	ENSP00000311427:p.Asp376Asn						p.D376N	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	2323	+			376			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1126G>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766693	0.49574	.	.	ENSG00000173548	ENST00000308527	T	0.42131	0.98	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.052515	0.85682	D	0.000000	T	0.32912	0.0845	N	0.14661	0.345	0.58432	D	0.999998	B;B	0.24043	0.096;0.096	B;B	0.30401	0.115;0.115	T	0.10847	-1.0612	10	0.40728	T	0.16	-20.2346	18.3366	0.90290	0.0:0.0:1.0:0.0	.	376;376	B1NM17;Q8WV41	.;SNX33_HUMAN	N	376	ENSP00000311427:D376N	ENSP00000311427:D376N	D	+	1	0	SNX33	73729624	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.867000	0.99620	2.586000	0.87340	0.561000	0.74099	GAT		0.592	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		9	353	0	0	0	1	0	9	353				
FGFRL1	53834	broad.mit.edu	37	4	1018897	1018897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1018897G>A	ENST00000398484.2	+	8	1857	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	426					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCGCGACCGCAGCGGAGAC	0.726																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1276-1278)cGc>cAc		fibroblast growth factor receptor-like 1							12.0	13.0	13.0					4																	1018897		2183	4264	6447	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018897G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1277G>A	4.37:g.1018897G>A	ENSP00000381498:p.Arg426His					FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H	p.R426H			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	1857	+			426					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1277G>A	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967696	0.34754	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.26	4.26	0.50523	.	0.124081	0.53938	D	0.000042	T	0.56381	0.1981	L	0.33485	1.01	0.58432	D	0.999996	B	0.33694	0.421	B	0.28553	0.091	T	0.55095	-0.8194	10	0.13853	T	0.58	-20.067	15.7273	0.77770	0.0:0.0:1.0:0.0	.	426	Q8N441	FGRL1_HUMAN	H	426;396;426;426;426	ENSP00000381498:R426H;ENSP00000425025:R426H;ENSP00000423091:R426H;ENSP00000264748:R426H	ENSP00000264748:R426H	R	+	2	0	FGFRL1	1008897	0.214000	0.23563	0.659000	0.29680	0.023000	0.10783	1.039000	0.30266	1.943000	0.56356	0.456000	0.33151	CGC		0.726	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		24	126	0	0	0	1	0	24	126				
A1BG	1	broad.mit.edu	37	19	58864689	58864689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864689G>A	ENST00000263100.3	-	2	100	c.39C>T	c.(37-39)gtC>gtT	p.V13V	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	13						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCCCCAGGTGACACCTGCGG	0.677																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(37-39)gtC>gtT		alpha-1-B glycoprotein							31.0	33.0	32.0					19																	58864689		2198	4297	6495	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58864689G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.39C>T	19.37:g.58864689G>A						A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.V13V	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	2	100	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	13					A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.39C>T	CCDS12976.1																																																																																				0.677	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		25	83	0	0	0	1	0	25	83				
HYAL2	8692	broad.mit.edu	37	3	50357048	50357048	+	Silent	SNP	G	G	A	rs373921434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50357048G>A	ENST00000447092.1	-	1	3165	c.873C>T	c.(871-873)taC>taT	p.Y291Y	HYAL2_ENST00000357750.4_Silent_p.Y291Y|HYAL2_ENST00000442581.1_Silent_p.Y291Y|HYAL2_ENST00000395139.3_Silent_p.Y291Y|TUSC2_ENST00000462137.1_5'Flank			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	291					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGTGAAGACGTAGACTGGGA	0.592																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(871-873)taC>taT		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)	G	,	2,4404	4.2+/-10.8	0,2,2201	49.0	50.0	49.0		873,873	-6.2	0.6	3		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HYAL2	NM_003773.4,NM_033158.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	291/474,291/474	50357048	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357048G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.873C>T	3.37:g.50357048G>A						HYAL2_ENST00000357750.4_Silent_p.Y291Y|HYAL2_ENST00000395139.3_Silent_p.Y291Y|HYAL2_ENST00000442581.1_Silent_p.Y291Y	p.Y291Y			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	3165	-			291					B3KRZ2|O15177|Q9BW29	Silent	SNP	ENST00000447092.1	37	c.873C>T	CCDS2818.1																																																																																				0.592	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		33	129	0	0	0	1	0	33	129				
HNRNPH1	3187	broad.mit.edu	37	5	179044893	179044893	+	Silent	SNP	G	G	A	rs78795662	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044893G>A	ENST00000356731.5	-	7	2363	c.828C>T	c.(826-828)taC>taT	p.Y276Y	HNRNPH1_ENST00000511300.2_Silent_p.Y6Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y|HNRNPH1_ENST00000393432.4_Silent_p.Y276Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	276	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACCATCCCCGTATCTGTGAT	0.418													G|||	7	0.00139776	0.0	0.0014	5008	,	,		22274	0.0		0.005	False		,,,				2504	0.001					ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(826-828)taC>taT		heterogeneous nuclear ribonucleoprotein H1 (H)		G		1,4405	2.1+/-5.4	0,1,2202	141.0	122.0	129.0		828	-8.2	0.5	5	dbSNP_132	129	26,8574	18.5+/-59.3	0,26,4274	no	coding-synonymous	HNRNPH1	NM_005520.2		0,27,6476	AA,AG,GG		0.3023,0.0227,0.2076		276/450	179044893	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044893G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.828C>T	5.37:g.179044893G>A						HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y|HNRNPH1_ENST00000511300.2_Silent_p.Y6Y|HNRNPH1_ENST00000393432.4_Silent_p.Y276Y	p.Y276Y			P31943	HNRH1_HUMAN			7	2363	-			276			2 X 16 AA Gly-rich approximate repeats.		B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	c.828C>T	CCDS4446.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	6.690	0.495996	0.12762	2.27E-4	0.003023	ENSG00000169045	ENST00000521173	.	.	.	5.59	-8.16	0.01061	.	.	.	.	.	T	0.66799	0.2826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72304	-0.4333	4	.	.	.	-7.2366	20.0627	0.97684	0.7951:0.0:0.2049:0.0	.	.	.	.	M	151	.	.	T	-	2	0	HNRNPH1	178977499	0.043000	0.20138	0.496000	0.27539	0.971000	0.66376	-0.373000	0.07494	-1.706000	0.01404	-0.237000	0.12165	ACG		0.418	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		101	270	0	0	0	1	0	101	270				
TP53I13	90313	broad.mit.edu	37	17	27899263	27899263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27899263G>T	ENST00000301057.7	+	6	732	c.617G>T	c.(616-618)aGg>aTg	p.R206M	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	206						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AAGAGGCGGAGGCTGCGGGCT	0.662																																						ENST00000301057.7																			0				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(616-618)aGg>aTg		tumor protein p53 inducible protein 13							20.0	23.0	22.0					17																	27899263		2023	4161	6184	SO:0001583	missense	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27899263G>T	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.617G>T	17.37:g.27899263G>T	ENSP00000301057:p.Arg206Met					RP11-68I3.2_ENST00000581474.1_RNA	p.R206M	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	6	732	+			206					Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	37	c.617G>T	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696978	0.68386	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	3.94	0.45596	.	0.273278	0.28414	N	0.015435	T	0.25975	0.0633	N	0.22421	0.69	0.23411	N	0.997732	P	0.45827	0.867	B	0.41764	0.366	T	0.13953	-1.0490	9	0.52906	T	0.07	-15.1754	11.6787	0.51444	0.0:0.0:1.0:0.0	.	206	Q8NBR0	P5I13_HUMAN	M	206	.	ENSP00000301057:R206M	R	+	2	0	TP53I13	24923389	0.185000	0.23213	0.999000	0.59377	0.241000	0.25554	0.688000	0.25422	2.199000	0.70637	0.462000	0.41574	AGG		0.662	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		47	213	1	0	1.48734e-19	1	1.65976e-19	47	213				
EEF1DP3	196549	broad.mit.edu	37	13	32527069	32527069	+	RNA	SNP	C	C	T	rs115313580	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32527069C>T	ENST00000428783.1	+	0	769							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										GTCTCCCATGCGCCAAGTGGA	0.607													C|||	26	0.00519169	0.0197	0.0	5008	,	,		16512	0.0		0.0	False		,,,				2504	0.0					ENST00000428783.1																			0															C		27,1357		2,23,667	17.0	18.0	17.0			-0.6	0.1	13	dbSNP_132	17	0,3182		0,0,1591	no	intergenic				2,23,2258	TT,TC,CC		0.0,1.9509,0.5913			32527069	27,4539	692	1591	2283			0							g.chr13:32527069C>T			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527069C>T														0	769	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.607	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		40	205	0	0	0	1	0	40	205				
ALDH1L1	10840	broad.mit.edu	37	3	125833403	125833403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125833403C>A	ENST00000393434.2	-	18	2428	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q703H|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	693	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCTCACCATCTGCACAGCCT	0.597																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2077-2079)caG>caT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						105.0	97.0	100.0					3																	125833403		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125833403C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2079G>T	3.37:g.125833403C>A	ENSP00000377083:p.Gln693His					ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q703H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H	p.Q693H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	18	2428	-			693			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2079G>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045867	0.36085	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	3.82	1.0	0.19881	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.212560	0.40554	N	0.001072	T	0.09949	0.0244	L	0.38531	1.155	0.80722	D	1	D;D;P	0.59767	0.973;0.986;0.707	P;P;P	0.54889	0.71;0.763;0.5	T	0.19257	-1.0311	10	0.72032	D	0.01	.	2.8212	0.05471	0.2024:0.4583:0.0:0.3393	.	592;228;693	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	H	703;693;592;693	ENSP00000273450:Q703H;ENSP00000420293:Q693H;ENSP00000395881:Q592H;ENSP00000377083:Q693H	ENSP00000273450:Q703H	Q	-	3	2	ALDH1L1	127316093	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	1.044000	0.30329	0.407000	0.25591	-0.339000	0.08088	CAG		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		74	317	1	0	2.0493e-37	1	2.46103e-37	74	317				
DNAH8	1769	broad.mit.edu	37	6	38691111	38691111	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38691111A>G	ENST00000359357.3	+	2	78		c.e2-1		DNAH8_ENST00000449981.2_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCATTCCTTAGGCAAGATTT	0.313																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.e2-1		dynein, axonemal, heavy chain 8							104.0	110.0	108.0					6																	38691111		876	1991	2867	SO:0001630	splice_region_variant	1769							g.chr6:38691111A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-176-1A>G	6.37:g.38691111A>G						DNAH8_ENST00000449981.2_Splice_Site								2	78	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37			.	.	.	.	.	.	.	.	.	.	A	18.32	3.597436	0.66332	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4259	0.61026	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38799089	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	5.976000	0.70484	2.146000	0.66826	0.533000	0.62120	.		0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	77	349	0	0	0	1	0	77	349				
DNAJC1	64215	broad.mit.edu	37	10	22048286	22048286	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048286T>C	ENST00000376980.3	-	11	1699	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	470					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TATGTCAAAGTCCTTCTGCCG	0.587																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1408-1410)gAc>gGc		DnaJ (Hsp40) homolog, subfamily C, member 1							99.0	96.0	97.0					10																	22048286		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048286T>C	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1409A>G	10.37:g.22048286T>C	ENSP00000366179:p.Asp470Gly						p.D470G	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			11	1699	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	470					B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1409A>G	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531884	0.64972	.	.	ENSG00000136770	ENST00000376980	T	0.66815	-0.23	5.58	5.58	0.84498	.	0.100975	0.64402	D	0.000003	T	0.80571	0.4648	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.82575	-0.0389	10	0.72032	D	0.01	-7.77	15.7332	0.77822	0.0:0.0:0.0:1.0	.	191;470	Q96NY3;Q96KC8	.;DNJC1_HUMAN	G	470	ENSP00000366179:D470G	ENSP00000366179:D470G	D	-	2	0	DNAJC1	22088292	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.948000	0.87774	2.132000	0.65825	0.402000	0.26972	GAC		0.587	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		11	497	0	0	0	1	0	11	497				
RIMS2	9699	broad.mit.edu	37	8	104513053	104513053	+	5'Flank	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104513053G>C	ENST00000406091.3	+	0	0				RP11-1C8.4_ENST00000523422.1_RNA|RP11-1C8.4_ENST00000517376.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCGCGCCGGTGCCGCCGCT	0.672										HNSCC(12;0.0054)																												ENST00000523422.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:104513053G>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26			8.37:g.104513053G>C	Exception_encountered													0	277	-								B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	SNP	ENST00000406091.3	37		CCDS55269.1																																																																																				0.672	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		9	46	0	0	0	1	0	9	46				
GPR98	84059	broad.mit.edu	37	5	89925335	89925335	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89925335T>C	ENST00000405460.2	+	9	1914	c.1818T>C	c.(1816-1818)aaT>aaC	p.N606N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	606					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		tccttcaaaatggagctcact	0.318																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(1816-1818)aaT>aaC		G protein-coupled receptor 98							56.0	55.0	55.0					5																	89925335		1844	4083	5927	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89925335T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1818T>C	5.37:g.89925335T>C							p.N606N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	9	1914	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	606					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.1818T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	9.095	1.002709	0.19121	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.71753	0.3377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71167	-0.4672	4	.	.	.	.	15.6442	0.77036	0.0:0.0:0.0:1.0	.	.	.	.	R	195	.	.	W	+	1	0	GPR98	89961091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.434000	0.44802	2.104000	0.64026	0.533000	0.62120	TGG		0.318	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		37	168	0	0	0	1	0	37	168				
IK	3550	broad.mit.edu	37	5	140040342	140040342	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140040342G>T	ENST00000417647.2	+	16	1494		c.e16-1			NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II						cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTCCTTAGGATGGATGAC	0.463																																						ENST00000417647.2																			0				large_intestine(1)	1						c.e16-1		IK cytokine, down-regulator of HLA II							234.0	230.0	231.0					5																	140040342		1993	4177	6170	SO:0001630	splice_region_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140040342G>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1356-1G>T	5.37:g.140040342G>T								NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	1494	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)						Q6IPD8	Splice_Site	SNP	ENST00000417647.2	37		CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086207	0.76642	.	.	ENSG00000113141	ENST00000417647	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7911	0.85589	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IK	140020526	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.609000	0.98334	2.261000	0.74972	0.655000	0.94253	.		0.463	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	Intron	47	242	1	0	8.86878e-18	1	9.80954e-18	47	242				
POM121	9883	broad.mit.edu	37	7	72413455	72413455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413455G>A	ENST00000434423.2	+	11	2923	c.2923G>A	c.(2923-2925)Gct>Act	p.A975T	POM121_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000395270.1_Missense_Mutation_p.A710T|POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000257622.4_Missense_Mutation_p.A710T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	975	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTTGGGGCCGCTGAGGGGCA	0.652																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2128-2130)Gct>Act		POM121 transmembrane nucleoporin							16.0	24.0	21.0					7																	72413455		2153	4247	6400	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413455G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2923G>A	7.37:g.72413455G>A	ENSP00000405562:p.Ala975Thr					POM121_ENST00000257622.4_Missense_Mutation_p.A710T|POM121_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000434423.2_Missense_Mutation_p.A975T	p.A710T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3169	+		Lung NSC(55;0.163)	975			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2128G>A		.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292911	0.00245	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05855	3.38;3.39;3.38;3.39;3.65	2.33	-1.67	0.08238	.	0.482456	0.15496	N	0.259272	T	0.01976	0.0062	N	0.03050	-0.425	0.09310	N	1	B;B	0.23650	0.089;0.041	B;B	0.16722	0.016;0.008	T	0.48068	-0.9067	10	0.10111	T	0.7	.	6.8782	0.24158	0.3294:0.0:0.6706:0.0	.	710;975	A8MXF9;Q96HA1	.;P121A_HUMAN	T	710;710;710;710;975	ENSP00000393020:A710T;ENSP00000257622:A710T;ENSP00000378687:A710T;ENSP00000351124:A710T;ENSP00000405562:A975T	ENSP00000257622:A710T	A	+	1	0	POM121	72051391	0.000000	0.05858	0.129000	0.21949	0.087000	0.18053	-0.483000	0.06536	-0.190000	0.10465	0.173000	0.16961	GCT		0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			96	441	0	0	0	1	0	96	441				
PNP	4860	broad.mit.edu	37	14	20940628	20940628	+	Missense_Mutation	SNP	G	G	A	rs199763463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20940628G>A	ENST00000361505.5	+	2	319	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						AACTTTCCCCGAAGTACAGGT	0.468																																						ENST00000361505.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						c.(172-174)cGa>cAa		purine nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						57.0	51.0	53.0					14																	20940628		2203	4300	6503	SO:0001583	missense	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20940628G>A		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.173G>A	14.37:g.20940628G>A	ENSP00000354532:p.Arg58Gln						p.R58Q	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN			2	319	+			58						Missense_Mutation	SNP	ENST00000361505.5	37	c.173G>A	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623376	0.28889	.	.	ENSG00000198805	ENST00000553418;ENST00000361505;ENST00000553591	T;D;D	0.87103	-0.99;-2.21;-2.21	5.54	-10.7	0.00240	Nucleoside phosphorylase domain (1);	0.798013	0.12104	N	0.499173	T	0.54029	0.1833	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.04013	0.0;0.001;0.001	T	0.56980	-0.7889	10	0.09843	T	0.71	0.7706	8.7381	0.34541	0.3584:0.0:0.4603:0.1813	.	58;58;58	Q8N7G1;G3V2H3;P00491	.;.;PNPH_HUMAN	Q	58;58;97	ENSP00000450663:R58Q;ENSP00000354532:R58Q;ENSP00000452421:R97Q	ENSP00000354532:R58Q	R	+	2	0	PNP	20010468	0.000000	0.05858	0.022000	0.16811	0.689000	0.40095	-0.715000	0.04997	-2.479000	0.00524	-2.290000	0.00267	CGA		0.468	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		13	170	0	0	0	1	0	13	170				
DST	667	broad.mit.edu	37	6	56342199	56342199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56342199C>T	ENST00000361203.3	-	86	20666	c.20659G>A	c.(20659-20661)Gac>Aac	p.D6887N	DST_ENST00000446842.2_Missense_Mutation_p.D6672N|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D6998N|DST_ENST00000370754.5_Missense_Mutation_p.D7176N			Q03001	DYST_HUMAN	dystonin	6888					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGATGGAGTCGGGGTGGCAG	0.458																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(21526-21528)Gac>Aac		dystonin							171.0	178.0	176.0					6																	56342199		1950	4159	6109	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56342199C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20659G>A	6.37:g.56342199C>T	ENSP00000354508:p.Asp6887Asn					DST_ENST00000370769.4_Missense_Mutation_p.D6998N|DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000361203.3_Missense_Mutation_p.D6887N|DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000446842.2_Missense_Mutation_p.D6672N	p.D7176N			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		91	21525	-	Lung NSC(77;0.103)		6996					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.21526G>A		.	.	.	.	.	.	.	.	.	.	C	28.3	4.907843	0.92107	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52983	0.64;1.08;1.08;0.64;1.08;1.08;1.08	5.58	5.58	0.84498	.	0.000000	0.53938	D	0.000059	T	0.69655	0.3135	M	0.84846	2.72	0.32497	N	0.5393319999999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.97110	0.999;1.0;0.999;0.999;0.892	T	0.71189	-0.4666	9	0.52906	T	0.07	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	4910;6998;7176;6996;4584	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	4584;7176;6998;4910;6672;4801;6887	ENSP00000244364:D4584N;ENSP00000359790:D7176N;ENSP00000359805:D6998N;ENSP00000400883:D4910N;ENSP00000393645:D6672N;ENSP00000359824:D4801N;ENSP00000354508:D6887N	ENSP00000244364:D4584N	D	-	1	0	DST	56450158	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	7.776000	0.85560	2.789000	0.95967	0.591000	0.81541	GAC		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		77	348	0	0	0	1	0	77	348				
MTSS1	9788	broad.mit.edu	37	8	125580657	125580657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125580657C>T	ENST00000518547.1	-	7	1054	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	MTSS1_ENST00000431961.2_5'UTR|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	194	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTACAGAATCGGCCACGTTC	0.438																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(580-582)cGa>cAa		metastasis suppressor 1							105.0	89.0	94.0					8																	125580657		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125580657C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.581G>A	8.37:g.125580657C>T	ENSP00000429064:p.Arg194Gln					MTSS1_ENST00000431961.2_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000354184.4_5'UTR	p.R194Q	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	1054	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		194			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.581G>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382456	0.95967	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000524090	T;T;T;T	0.58652	0.67;0.75;0.73;0.32	5.55	5.55	0.83447	IRSp53/MIM homology domain (IMD) (3);	0.061993	0.64402	D	0.000004	T	0.75280	0.3828	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	P;D;D;D	0.97110	0.697;1.0;0.998;0.999	T	0.74544	-0.3630	10	0.52906	T	0.07	-14.0004	19.861	0.96785	0.0:1.0:0.0:0.0	.	84;194;194;194	E7EWW5;A5YM41;O43312;O43312-4	.;.;MTSS1_HUMAN;.	Q	194;194;198;84	ENSP00000367256:R194Q;ENSP00000429064:R194Q;ENSP00000322804:R198Q;ENSP00000428319:R84Q	ENSP00000322804:R198Q	R	-	2	0	MTSS1	125649838	1.000000	0.71417	0.931000	0.37212	0.737000	0.42083	7.689000	0.84165	2.767000	0.95098	0.655000	0.94253	CGA		0.438	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		51	295	0	0	0	1	0	51	295				
CCDC124	115098	broad.mit.edu	37	19	18054174	18054174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18054174G>A	ENST00000597436.1	+	4	561	c.454G>A	c.(454-456)Gca>Aca	p.A152T	CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	152					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						GGACGCCATTGCAGTGCTCAG	0.701																																						ENST00000597436.1																			0				central_nervous_system(1)|kidney(2)	3						c.(454-456)Gca>Aca		coiled-coil domain containing 124							17.0	18.0	17.0					19																	18054174		2185	4279	6464	SO:0001583	missense	115098						DNA binding	g.chr19:18054174G>A	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.454G>A	19.37:g.18054174G>A	ENSP00000471455:p.Ala152Thr					CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	p.A152T	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN			4	561	+			152						Missense_Mutation	SNP	ENST00000597436.1	37	c.454G>A	CCDS12369.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146717	0.37923	.	.	ENSG00000007080	ENST00000445755	T	0.47177	0.85	4.72	3.68	0.42216	.	0.056223	0.64402	D	0.000001	T	0.43299	0.1241	M	0.75884	2.315	0.80722	D	1	B	0.31256	0.316	B	0.29942	0.109	T	0.25328	-1.0135	10	0.11794	T	0.64	-7.0596	10.5857	0.45282	0.0972:0.0:0.9028:0.0	.	152	Q96CT7	CC124_HUMAN	T	152	ENSP00000408730:A152T	ENSP00000408730:A152T	A	+	1	0	CCDC124	17915174	1.000000	0.71417	0.805000	0.32314	0.197000	0.23852	3.995000	0.57001	0.963000	0.38082	0.491000	0.48974	GCA		0.701	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442		7	35	0	0	0	1	0	7	35				
PILRB	29990	broad.mit.edu	37	7	99957138	99957138	+	Silent	SNP	C	C	T	rs369458364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99957138C>T	ENST00000452089.1	+	8	1692	c.633C>T	c.(631-633)ctC>ctT	p.L211L	PILRB_ENST00000448382.1_Missense_Mutation_p.P264S|PILRB_ENST00000609309.1_Silent_p.L211L|PILRB_ENST00000444073.1_Silent_p.L211L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Silent_p.L211L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	211					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCCTCCTCCTGTGGTGGA	0.547																																						ENST00000444874.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(424-426)Cct>Tct		paired immunoglobin-like type 2 receptor beta		C		1,4403	2.1+/-5.4	0,1,2201	76.0	83.0	80.0		633		0.1	7		80	0,8600		0,0,4300	no	coding-synonymous	PILRB	NM_178238.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		211/228	99957138	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99957138C>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.633C>T	7.37:g.99957138C>T						PILRB_ENST00000452089.1_Silent_p.L211L|PILRB_ENST00000444073.1_Silent_p.L211L|PILRB_ENST00000310771.4_Silent_p.L211L|PILRB_ENST00000448382.1_Missense_Mutation_p.P264S	p.P142S			Q9UKJ0	PILRB_HUMAN			16	2324	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		0			Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.424C>T	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	1.680	-0.506765	0.04231	2.27E-4	0.0	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	.	.	.	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27262	-1.0079	2	.	.	.	.	.	.	.	.	142	Q9UKJ0-2	.	S	142;264	.	.	P	+	1	0	PILRB	99795074	0.095000	0.21747	0.062000	0.19696	0.007000	0.05969	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCT		0.547	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		58	242	0	0	0	1	0	58	242				
OPCML	4978	broad.mit.edu	37	11	132812857	132812857	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812857T>C	ENST00000331898.7	-	1	709	c.131A>G	c.(130-132)aAc>aGc	p.N44S	OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000524381.1_Missense_Mutation_p.N37S|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	44	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GACCGTCACGTTGTCCATAGC	0.662																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(130-132)aAc>aGc		opioid binding protein/cell adhesion molecule-like							63.0	68.0	66.0					11																	132812857		2201	4295	6496	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812857T>C	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.131A>G	11.37:g.132812857T>C	ENSP00000330862:p.Asn44Ser					OPCML_ENST00000524381.1_Missense_Mutation_p.N37S|OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000529038.1_Intron	p.N44S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	1	709	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	44			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.131A>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887404	0.72410	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134612	0.47852	D	0.000218	T	0.37785	0.1016	L	0.54863	1.705	0.50632	D	0.999888	P;B;B;P	0.35656	0.514;0.267;0.267;0.502	P;P;P;P	0.46275	0.491;0.491;0.491;0.51	T	0.12682	-1.0538	10	0.49607	T	0.09	-20.4728	15.7888	0.78332	0.0:0.0:0.0:1.0	.	44;37;44;44	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	44;37;3;37;44	ENSP00000330862:N44S;ENSP00000434750:N37S;ENSP00000363910:N3S;ENSP00000445496:N44S	ENSP00000330862:N44S	N	-	2	0	OPCML	132318067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.140000	0.66376	0.533000	0.62120	AAC		0.662	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		83	435	0	0	0	1	0	83	435				
POLR3E	55718	broad.mit.edu	37	16	22324989	22324989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22324989G>A	ENST00000299853.5	+	7	580	c.413G>A	c.(412-414)aGc>aAc	p.S138N	POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N|POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	138					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTGCGGCCCAGCTTCTCCTAC	0.627																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(412-414)aGc>aAc		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							50.0	51.0	51.0					16																	22324989		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22324989G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.413G>A	16.37:g.22324989G>A	ENSP00000299853:p.Ser138Asn					POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N|POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N	p.S138N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	7	580	+			138					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.413G>A	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337964	0.81911	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.52295	0.67;0.67;0.67	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.72353	2.195	0.80722	D	1	B;B;B;B;B;B	0.28400	0.116;0.009;0.116;0.075;0.116;0.21	B;B;B;B;B;B	0.35278	0.199;0.036;0.129;0.05;0.129;0.125	T	0.58730	-0.7585	10	0.87932	D	0	-18.61	18.0983	0.89498	0.0:0.0:1.0:0.0	.	82;102;138;138;138;138	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	N	138;138;102	ENSP00000299853:S138N;ENSP00000352140:S138N;ENSP00000399254:S102N	ENSP00000299853:S138N	S	+	2	0	POLR3E	22232490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.563000	0.86464	0.561000	0.74099	AGC		0.627	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		68	265	0	0	0	1	0	68	265				
KCNJ5	3762	broad.mit.edu	37	11	128786590	128786590	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128786590G>A	ENST00000338350.4	+	4	1576	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	KCNJ5_ENST00000529694.1_Silent_p.G408G|KCNJ5_ENST00000533599.1_Silent_p.G408G			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	408					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AGCCCAAGGGGCTGGGTGGGT	0.647																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1222-1224)ggG>ggA		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						12.0	14.0	13.0					11																	128786590		2191	4266	6457	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128786590G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1224G>A	11.37:g.128786590G>A						KCNJ5_ENST00000533599.1_Silent_p.G408G|KCNJ5_ENST00000338350.4_Silent_p.G408G	p.G408G	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	3	1600	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	408					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.1224G>A	CCDS8479.1																																																																																				0.647	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		33	138	0	0	0	1	0	33	138				
NDOR1	27158	broad.mit.edu	37	9	140110152	140110152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110152G>A	ENST00000344894.5	+	11	1413	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	NDOR1_ENST00000371521.4_Missense_Mutation_p.A444T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T|NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGAGTCTGGCCTTCCCAGA	0.642																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1330-1332)Gcc>Acc		NADPH dependent diflavin oxidoreductase 1							47.0	52.0	50.0					9																	140110152		2202	4300	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110152G>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1330G>A	9.37:g.140110152G>A	ENSP00000343344:p.Ala444Thr					NDOR1_ENST00000344894.5_Missense_Mutation_p.A444T|NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T	p.A444T	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1413	+	all_cancers(76;0.0926)		444			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000344894.5	37	c.1330G>A	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770454	0.15983	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.03242	4.27;4.0;4.24;4.24	4.68	0.973	0.19710	Ferredoxin reductase-type FAD-binding domain (1);	0.403386	0.25701	N	0.028879	T	0.01156	0.0038	N	0.00666	-1.275	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.47275	-0.9130	10	0.37606	T	0.19	-18.318	7.1715	0.25721	0.6166:0.0:0.3834:0.0	.	437;410;444;444	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	T	437;410;444;444	ENSP00000389905:A437T;ENSP00000394309:A410T;ENSP00000360576:A444T;ENSP00000343344:A444T	ENSP00000343344:A444T	A	+	1	0	NDOR1	139229973	0.846000	0.29590	0.432000	0.26747	0.903000	0.53119	1.231000	0.32624	0.298000	0.22638	0.561000	0.74099	GCC		0.642	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		80	347	0	0	0	1	0	80	347				
DCHS1	8642	broad.mit.edu	37	11	6651036	6651036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651036G>A	ENST00000299441.3	-	11	5313	c.4902C>T	c.(4900-4902)gtC>gtT	p.V1634V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1634	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1634V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACGGTCAGGACCTGCGTGG	0.642																																						ENST00000299441.3																			1	Substitution - coding silent(1)	p.V1634V(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(4900-4902)gtC>gtT		dachsous cadherin-related 1							46.0	46.0	46.0					11																	6651036		2200	4295	6495	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651036G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4902C>T	11.37:g.6651036G>A							p.V1634V	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5313	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1634			Cadherin 15.		O15098	Silent	SNP	ENST00000299441.3	37	c.4902C>T	CCDS7771.1																																																																																				0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	334	0	0	0	1	0	7	334				
NELL2	4753	broad.mit.edu	37	12	45269691	45269691	+	De_novo_Start_OutOfFrame	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45269691A>C	ENST00000429094.2	-	0	466				NELL2_ENST00000549027.1_Intron|NELL2_ENST00000437801.2_Intron|NELL2_ENST00000548826.1_De_novo_Start_OutOfFrame|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000551601.1_Intron|NELL2_ENST00000395487.2_5'Flank	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCTCtttaaaaataaaaataa	0.448																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65								NEL-like 2 (chicken)							32.0	39.0	36.0					12																	45269691		2203	4300	6503			4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269691A>C	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.-39T>G	12.37:g.45269691A>C						NELL2_ENST00000548826.1_De_novo_Start_OutOfFrame|NELL2_ENST00000549027.1_Intron|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000551601.1_Intron|NELL2_ENST00000437801.2_Intron		NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	0	466	-	Lung SC(27;0.192)	Lung NSC(34;0.144)						B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Translation_Start_Site	SNP	ENST00000429094.2	37		CCDS8746.1																																																																																				0.448	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		64	252	0	0	0	1	0	64	252				
SLC6A1	6529	broad.mit.edu	37	3	11067953	11067953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11067953G>A	ENST00000287766.4	+	10	1407	c.986G>A	c.(985-987)tGc>tAc	p.C329Y	SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	329					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	ATCAATTCGTGCACCAGCATG	0.577																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(985-987)tGc>tAc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						195.0	168.0	177.0					3																	11067953		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067953G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.986G>A	3.37:g.11067953G>A	ENSP00000287766:p.Cys329Tyr					SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	p.C329Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	10	1407	+		Ovarian(110;0.0392)	329					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.986G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381368	0.61845	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74002	-0.8;-0.8	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.81856	0.4911	M	0.84948	2.725	0.47737	D	0.999504	P	0.45348	0.856	P	0.47470	0.548	D	0.84761	0.0762	10	0.72032	D	0.01	.	15.4803	0.75521	0.0:0.138:0.862:0.0	.	329	P30531	SC6A1_HUMAN	Y	329;151	ENSP00000287766:C329Y;ENSP00000445171:C151Y	ENSP00000287766:C329Y	C	+	2	0	SLC6A1	11042953	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	2.582000	0.46085	2.813000	0.96785	0.655000	0.94253	TGC		0.577	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		135	567	0	0	0	1	0	135	567				
TRPM3	80036	broad.mit.edu	37	9	73151789	73151789	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73151789T>C	ENST00000377110.3	-	25	4447	c.4204A>G	c.(4204-4206)Atc>Gtc	p.I1402V	TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1427					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGACATAGATGTCTATACAC	0.498																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4204-4206)Atc>Gtc		transient receptor potential cation channel, subfamily M, member 3							108.0	101.0	104.0					9																	73151789		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151789T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4204A>G	9.37:g.73151789T>C	ENSP00000366314:p.Ile1402Val					TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V	p.I1402V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4447	-			1427					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4204A>G	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.28|18.28	3.590243|3.590243	0.66105|0.66105	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.61627	.|0.21;0.1;0.1;0.09;0.2;0.09;0.09;0.1;0.1;0.19	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103719	.|0.64402	.|D	.|0.000004	T|T	0.64294|0.64294	0.2585|0.2585	L|L	0.29908|0.29908	0.895|0.895	0.46356|0.46356	D|D	0.999|0.999	.|P;D;P;P;P;P;P	.|0.62365	.|0.876;0.991;0.606;0.803;0.876;0.541;0.803	.|D;D;B;P;D;B;P	.|0.72625	.|0.927;0.978;0.136;0.847;0.927;0.265;0.847	T|T	0.58662|0.58662	-0.7597|-0.7597	5|10	.|0.16896	.|T	.|0.51	-26.045|-26.045	16.5446|16.5446	0.84426|0.84426	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1402;1392;1406;1264;1261;1374;1261	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	R|V	1250|1402;1274;1264;1261;1406;1261;1261;1274;1264;1429	.|ENSP00000366314:I1402V;ENSP00000366310:I1274V;ENSP00000354066:I1264V;ENSP00000366309:I1261V;ENSP00000350140:I1406V;ENSP00000386127:I1261V;ENSP00000379581:I1261V;ENSP00000379587:I1274V;ENSP00000350791:I1264V;ENSP00000389542:I1429V	.|ENSP00000350140:I1406V	H|I	-|-	2|1	0|0	TRPM3|TRPM3	72341609|72341609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.499000|7.499000	0.81566|0.81566	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.498	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		92	336	0	0	0	1	0	92	336				
DNAJC9	23234	broad.mit.edu	37	10	75006444	75006444	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75006444A>G	ENST00000372950.4	-	2	1994		c.e2+1		DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000479005.1_5'Flank|DNAJC9-AS1_ENST00000513954.1_RNA	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9						social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					AGAGTCCTTTACCTTTTTAAA	0.448																																						ENST00000372950.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6						c.e2+1		DnaJ (Hsp40) homolog, subfamily C, member 9							61.0	69.0	66.0					10																	75006444		2203	4300	6503	SO:0001630	splice_region_variant	23234				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:75006444A>G	AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"""Heat shock proteins / DNAJ (HSP40)"""	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.321+1T>C	10.37:g.75006444A>G								NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN			2	1994	-	Prostate(51;0.0119)							B2RMW6	Splice_Site	SNP	ENST00000372950.4	37		CCDS7322.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365007	0.61513	.	.	ENSG00000213551	ENST00000372950	.	.	.	5.19	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5337	0.44992	0.8373:0.1627:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC9	74676450	1.000000	0.71417	0.776000	0.31678	0.748000	0.42578	9.278000	0.95766	0.877000	0.35895	0.482000	0.46254	.		0.448	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190	Intron	86	335	0	0	0	1	0	86	335				
ARHGEF12	23365	broad.mit.edu	37	11	120355208	120355208	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120355208A>C	ENST00000397843.2	+	40	4782	c.4616A>C	c.(4615-4617)aAg>aCg	p.K1539T	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1539					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCACAGACAAGCACTCAGGT	0.388			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(4615-4617)aAg>aCg		Rho guanine nucleotide exchange factor (GEF) 12							80.0	74.0	76.0					11																	120355208		1879	4112	5991	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120355208A>C	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4616A>C	11.37:g.120355208A>C	ENSP00000380942:p.Lys1539Thr					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T	p.K1539T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	40	4782	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1539					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.4616A>C	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147910	0.57151	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68765	-0.25;-0.35;-0.24	5.69	4.57	0.56435	.	0.142736	0.32328	N	0.006246	T	0.46795	0.1411	N	0.19112	0.55	0.27222	N	0.959639	P	0.35433	0.501	B	0.29785	0.107	T	0.35847	-0.9772	10	0.33940	T	0.23	-11.4479	10.0608	0.42273	0.9244:0.0:0.0756:0.0	.	1539	Q9NZN5	ARHGC_HUMAN	T	1539;1520;1436	ENSP00000380942:K1539T;ENSP00000349056:K1520T;ENSP00000432984:K1436T	ENSP00000349056:K1520T	K	+	2	0	ARHGEF12	119860418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.355000	0.59424	0.993000	0.38866	0.533000	0.62120	AAG		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		37	317	0	0	0	1	0	37	317				
DNAH3	55567	broad.mit.edu	37	16	20966215	20966215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20966215G>A	ENST00000261383.3	-	55	10990	c.10991C>T	c.(10990-10992)gCg>gTg	p.A3664V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3664	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACATCACCGCCTTTGCACA	0.527																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10990-10992)gCg>gTg		dynein, axonemal, heavy chain 3							130.0	125.0	127.0					16																	20966215		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20966215G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10991C>T	16.37:g.20966215G>A	ENSP00000261383:p.Ala3664Val					DNAH3_ENST00000415178.1_3'UTR	p.A3664V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10990	-			3664			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10991C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828909	0.16749	.	.	ENSG00000158486	ENST00000261383	T	0.08720	3.06	5.43	2.3	0.28687	Dynein heavy chain (1);	0.362903	0.27236	N	0.020283	T	0.02848	0.0085	N	0.02192	-0.645	0.09310	N	1	B	0.30439	0.279	B	0.27887	0.084	T	0.43925	-0.9361	10	0.30078	T	0.28	.	6.8303	0.23907	0.0693:0.1285:0.6688:0.1335	.	3664	Q8TD57	DYH3_HUMAN	V	3664	ENSP00000261383:A3664V	ENSP00000261383:A3664V	A	-	2	0	DNAH3	20873716	0.008000	0.16893	0.010000	0.14722	0.242000	0.25591	1.261000	0.32980	0.229000	0.21039	0.655000	0.94253	GCG		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		160	571	0	0	0	1	0	160	571				
OPLAH	26873	broad.mit.edu	37	8	145109470	145109470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145109470C>T	ENST00000426825.1	-	19	2761	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	894					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCACCCTCCTCCTGGAAGACG	0.647																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2680-2682)Gag>Aag		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						32.0	36.0	35.0					8																	145109470		1992	4160	6152	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145109470C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2680G>A	8.37:g.145109470C>T	ENSP00000475943:p.Glu894Lys					OPLAH_ENST00000534424.1_5'UTR	p.E894K	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		19	2761	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		894					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2680G>A		.	.	.	.	.	.	.	.	.	.	C	14.78	2.637608	0.47049	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	.	.	.	0.53688	D	0.999972	D	0.76494	0.999	D	0.69479	0.964	T	0.83160	-0.0099	7	0.87932	D	0	.	15.9917	0.80211	0.0:1.0:0.0:0.0	.	894	O14841	OPLA_HUMAN	K	894	.	ENSP00000412071:E894K	E	-	1	0	OPLAH	145181458	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.021000	0.76425	2.387000	0.81309	0.563000	0.77884	GAG		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		23	102	0	0	0	1	0	23	102				
AP3M1	26985	broad.mit.edu	37	10	75893913	75893913	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75893913T>C	ENST00000355264.4	-	4	766	c.455A>G	c.(454-456)aAt>aGt	p.N152S	AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	152					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GTCCCCAACATTACTACTGCC	0.418																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(454-456)aAt>aGt		adaptor-related protein complex 3, mu 1 subunit							66.0	60.0	62.0					10																	75893913		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75893913T>C	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.455A>G	10.37:g.75893913T>C	ENSP00000347408:p.Asn152Ser					AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	p.N152S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			4	766	-	Prostate(51;0.0112)		152					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.455A>G	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.972647	0.92919	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.77358	-1.09;-1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	L	0.46157	1.445	0.80722	D	1	B;B	0.23058	0.023;0.079	B;B	0.23852	0.024;0.049	T	0.69359	-0.5166	10	0.40728	T	0.16	-22.6387	16.2127	0.82178	0.0:0.0:0.0:1.0	.	98;152	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	S	152	ENSP00000347408:N152S;ENSP00000361831:N152S	ENSP00000347408:N152S	N	-	2	0	AP3M1	75563919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.236000	0.73375	0.533000	0.62120	AAT		0.418	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			48	220	0	0	0	1	0	48	220				
PRDM2	7799	broad.mit.edu	37	1	14105607	14105607	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105607C>T	ENST00000235372.7	+	8	2173	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Silent_p.N439N|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N|PRDM2_ENST00000343137.4_Silent_p.N238N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGGAGAAAACGTTGCTTCAA	0.502																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1315-1317)aaC>aaT		PR domain containing 2, with ZNF domain							44.0	44.0	44.0					1																	14105607		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105607C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1317C>T	1.37:g.14105607C>T						PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Silent_p.N238N|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Silent_p.N439N	p.N439N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2173	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	439					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.1317C>T	CCDS150.1																																																																																				0.502	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		70	219	0	0	0	1	0	70	219				
PTPRH	5794	broad.mit.edu	37	19	55708767	55708767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708767C>T	ENST00000376350.3	-	9	1730	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	570	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCTGGAGATCTGTGACCTCA	0.557																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1708-1710)Gat>Aat		protein tyrosine phosphatase, receptor type, H							62.0	66.0	65.0					19																	55708767		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708767C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1708G>A	19.37:g.55708767C>T	ENSP00000365528:p.Asp570Asn					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N	p.D570N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1730	-		Renal(1328;0.245)	570			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1708G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133908	0.09032	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.52057	0.68;0.68	4.94	-3.87	0.04218	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24122	0.0584	L	0.39020	1.185	0.09310	N	1	B;B;B	0.19331	0.003;0.002;0.035	B;B;B	0.18871	0.01;0.004;0.023	T	0.34675	-0.9819	9	0.05620	T	0.96	.	1.3223	0.02118	0.128:0.3414:0.2322:0.2984	.	392;392;570	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	N	570;392	ENSP00000365528:D570N;ENSP00000263434:D392N	ENSP00000263434:D392N	D	-	1	0	PTPRH	60400579	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.170000	0.09897	-0.451000	0.07097	0.655000	0.94253	GAT		0.557	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			19	367	0	0	0	1	0	19	367				
PPP4R1	9989	broad.mit.edu	37	18	9559502	9559502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9559502C>T	ENST00000400556.3	-	14	2016	c.1943G>A	c.(1942-1944)aGc>aAc	p.S648N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	648					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						ACCAGGGAGGCTATATGCACA	0.488																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1942-1944)aGc>aAc		protein phosphatase 4, regulatory subunit 1							174.0	160.0	164.0					18																	9559502		2014	4193	6207	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9559502C>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1943G>A	18.37:g.9559502C>T	ENSP00000383402:p.Ser648Asn					PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	p.S648N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			14	2016	-			648					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.1943G>A	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555564	0.65425	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.33216	1.42;1.42	5.57	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.133058	0.64402	D	0.000003	T	0.38374	0.1038	L	0.43923	1.385	0.53005	D	0.999968	B;D;B	0.54047	0.356;0.964;0.318	B;P;B	0.52031	0.057;0.688;0.122	T	0.08868	-1.0701	9	.	.	.	-13.2938	15.6966	0.77506	0.1379:0.8621:0.0:0.0	.	631;648;631	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	648;631	ENSP00000383402:S648N;ENSP00000383401:S631N	.	S	-	2	0	PPP4R1	9549502	1.000000	0.71417	0.980000	0.43619	0.692000	0.40212	7.487000	0.81328	1.316000	0.45131	0.650000	0.86243	AGC		0.488	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		136	587	0	0	0	1	0	136	587				
MAGEL2	54551	broad.mit.edu	37	15	23889232	23889232	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23889232G>T	ENST00000532292.1	-	1	1943	c.1849C>A	c.(1849-1851)Ctc>Atc	p.L617I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	500					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACTCTGCGAGCGCTTCAAGG	0.552																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1849-1851)Ctc>Atc		MAGE-like 2							59.0	63.0	61.0					15																	23889232		2040	4195	6235	SO:0001583	missense	54551							g.chr15:23889232G>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1849C>A	15.37:g.23889232G>T	ENSP00000433433:p.Leu617Ile						p.L617I	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1943	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1849C>A																																																																																					0.552	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		59	216	1	0	4.54978e-40	1	5.51122e-40	59	216				
FAM181B	220382	broad.mit.edu	37	11	82444612	82444612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444612C>T	ENST00000329203.3	-	1	294	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	54										large_intestine(1)|lung(2)|prostate(1)	4						CCTCCTTCGGCTCCCGACAGC	0.682																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(160-162)Gcc>Acc		family with sequence similarity 181, member B							18.0	18.0	18.0					11																	82444612		2202	4299	6501	SO:0001583	missense	220382							g.chr11:82444612C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.160G>A	11.37:g.82444612C>T	ENSP00000365295:p.Ala54Thr						p.A54T	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	294	-			54					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.160G>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	6.723	0.502213	0.12822	.	.	ENSG00000182103	ENST00000329203	T	0.31510	1.49	3.79	1.59	0.23543	.	1.269860	0.06393	U	0.717378	T	0.14917	0.0360	N	0.08118	0	0.25154	N	0.990404	B	0.14438	0.01	B	0.14578	0.011	T	0.31861	-0.9928	9	.	.	.	.	4.8862	0.13704	0.2079:0.6558:0.0:0.1363	.	54	A6NEQ2	F181B_HUMAN	T	54	ENSP00000365295:A54T	.	A	-	1	0	FAM181B	82122260	0.065000	0.20965	0.221000	0.23827	0.029000	0.11900	0.237000	0.17985	0.143000	0.18926	0.455000	0.32223	GCC		0.682	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		7	101	0	0	0	1	0	7	101				
PDGFRA	5156	broad.mit.edu	37	4	55140704	55140704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55140704G>A	ENST00000257290.5	+	11	1896	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	522					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTAGCCCTGCGTTCTGAACTC	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1564-1566)cGt>cAt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						166.0	150.0	155.0					4																	55140704		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55140704G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1565G>A	4.37:g.55140704G>A	ENSP00000257290:p.Arg522His	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.R522H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1896	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		522					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1565G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130862	0.21041	.	.	ENSG00000134853	ENST00000257290	T	0.76186	-1.0	6.07	4.37	0.52481	.	0.000000	0.31542	U	0.007464	T	0.51941	0.1704	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.06405	0.002;0.001	T	0.41520	-0.9504	10	0.10902	T	0.67	.	12.8769	0.57996	0.131:0.0:0.869:0.0	.	522;522	P16234-3;P16234	.;PGFRA_HUMAN	H	522	ENSP00000257290:R522H	ENSP00000257290:R522H	R	+	2	0	PDGFRA	54835461	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	3.232000	0.51302	0.908000	0.36671	-0.150000	0.13652	CGT		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		101	409	0	0	0	1	0	101	409				
INSC	387755	broad.mit.edu	37	11	15212360	15212360	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15212360G>T	ENST00000379554.3	+	6	880	c.834G>T	c.(832-834)aaG>aaT	p.K278N	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Splice_Site_p.K231N|INSC_ENST00000530161.1_Splice_Site_p.K231N|INSC_ENST00000424273.1_Splice_Site_p.K231N|INSC_ENST00000379556.3_Splice_Site_p.K231N|INSC_ENST00000525218.1_Splice_Site_p.K231N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	278					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCATAGCCAAGGTGAGCTTCA	0.537																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e6+1		inscuteable homolog (Drosophila)							79.0	82.0	81.0					11																	15212360		1938	4147	6085	SO:0001630	splice_region_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15212360G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.834+1G>T	11.37:g.15212360G>T						INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Splice_Site_p.K231_splice|INSC_ENST00000530161.1_Splice_Site_p.K231_splice|INSC_ENST00000528567.1_Splice_Site_p.K231_splice|INSC_ENST00000379556.3_Splice_Site_p.K231_splice|INSC_ENST00000525218.1_Splice_Site_p.K231_splice	p.K278_splice	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			6	880	+			278					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Splice_Site	SNP	ENST00000379554.3	37	c.834_splice	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324135	0.60634	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50813	0.75;0.75;0.73;0.75;0.75;0.73	6.06	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.091772	0.85682	D	0.000000	T	0.53238	0.1784	L	0.55481	1.735	0.80722	D	1	P;D;P;P	0.57571	0.947;0.98;0.944;0.796	P;P;P;B	0.51101	0.659;0.646;0.646;0.281	T	0.57814	-0.7746	10	0.72032	D	0.01	-35.2374	12.7863	0.57507	0.0767:0.0:0.9233:0.0	.	266;231;231;278	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	N	278;231;231;266;231;231;231	ENSP00000368872:K278N;ENSP00000368874:K231N;ENSP00000389161:K231N;ENSP00000435022:K231N;ENSP00000436194:K231N;ENSP00000436113:K231N	ENSP00000368872:K278N	K	+	3	2	INSC	15168936	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.302000	0.72788	1.573000	0.49748	0.650000	0.86243	AAG		0.537	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	Missense_Mutation	107	422	1	0	1.41219e-46	1	1.73556e-46	107	422				
AHNAK2	113146	broad.mit.edu	37	14	105412761	105412761	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412761C>T	ENST00000333244.5	-	7	9146	c.9027G>A	c.(9025-9027)gaG>gaA	p.E3009E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3009						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACTTCGGCCTCCACCTTCG	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9025-9027)gaG>gaA		AHNAK nucleoprotein 2							207.0	217.0	214.0					14																	105412761		2015	4154	6169	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412761C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9027G>A	14.37:g.105412761C>T						AHNAK2_ENST00000557457.1_Intron	p.E3009E	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9146	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3009					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9027G>A	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		56	1578	0	0	0	1	0	56	1578				
CCDC40	55036	broad.mit.edu	37	17	78055849	78055849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78055849A>G	ENST00000397545.4	+	12	2008	c.1981A>G	c.(1981-1983)Acc>Gcc	p.T661A	CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	661					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAGGAGAAGACCAACATGGT	0.622																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1981-1983)Acc>Gcc		coiled-coil domain containing 40							34.0	37.0	36.0					17																	78055849		2169	4278	6447	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78055849A>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1981A>G	17.37:g.78055849A>G	ENSP00000380679:p.Thr661Ala					CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	p.T661A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		12	2008	+	all_neural(118;0.167)		661					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1981A>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	9.233	1.036266	0.19669	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.91	4.86	4.86	0.63082	.	.	.	.	.	T	0.44582	0.1300	M	0.69823	2.125	0.32611	N	0.524658	B;B	0.16396	0.017;0.002	B;B	0.14578	0.011;0.009	T	0.51060	-0.8753	9	0.15499	T	0.54	-41.126	10.5946	0.45329	0.8386:0.1614:0.0:0.0	.	661;444	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	A	661	ENSP00000364011:T661A;ENSP00000380679:T661A	ENSP00000364011:T661A	T	+	1	0	CCDC40	75670444	0.907000	0.30839	1.000000	0.80357	0.977000	0.68977	1.387000	0.34430	1.794000	0.52575	0.533000	0.62120	ACC		0.622	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		29	156	0	0	0	1	0	29	156				
SERPINA7	6906	broad.mit.edu	37	X	105279214	105279214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105279214C>T	ENST00000327674.4	-	2	1120	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	262					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGCATTCTTGCTGTAGTCCAT	0.463																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(784-786)aGc>aAc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						221.0	179.0	193.0					X																	105279214		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105279214C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.785G>A	X.37:g.105279214C>T	ENSP00000329374:p.Ser262Asn					SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N	p.S262N			P05543	THBG_HUMAN			2	1120	-			262					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.785G>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134247	0.01742	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.83992	-1.79;-1.79	4.63	-0.624	0.11552	Serpin domain (3);	0.446758	0.22838	N	0.055014	T	0.72162	0.3426	L	0.55103	1.725	0.19775	N	0.999957	B	0.06786	0.001	B	0.11329	0.006	T	0.54002	-0.8358	10	0.18276	T	0.48	.	5.4022	0.16303	0.0:0.2925:0.4333:0.2742	.	262	P05543	THBG_HUMAN	N	262	ENSP00000329374:S262N;ENSP00000361644:S262N	ENSP00000329374:S262N	S	-	2	0	SERPINA7	105165870	0.003000	0.15002	0.008000	0.14137	0.029000	0.11900	-0.139000	0.10358	-0.399000	0.07668	-1.008000	0.02478	AGC		0.463	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		163	553	0	0	0	1	0	163	553				
S1PR1	1901	broad.mit.edu	37	1	101705127	101705127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101705127C>T	ENST00000305352.6	+	2	962	c.587C>T	c.(586-588)cCg>cTg	p.P196L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	196					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCGTGCTGCCGCTCTACCAC	0.562											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(586-588)cCg>cTg		sphingosine-1-phosphate receptor 1							136.0	125.0	129.0					1																	101705127		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705127C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.587C>T	1.37:g.101705127C>T	ENSP00000305416:p.Pro196Leu		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360		p.P196L	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	962	+			196					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.587C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676308	0.88445	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.39229	1.09	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67288	-0.5708	10	0.87932	D	0	.	18.9864	0.92771	0.0:1.0:0.0:0.0	.	196	P21453	S1PR1_HUMAN	L	196	ENSP00000305416:P196L	ENSP00000305416:P196L	P	+	2	0	S1PR1	101477715	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.476000	0.83614	0.455000	0.32223	CCG		0.562	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		53	436	0	0	0	1	0	53	436				
MYO18B	84700	broad.mit.edu	37	22	26423431	26423431	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26423431G>T	ENST00000407587.2	+	43	7663	c.7494G>T	c.(7492-7494)gaG>gaT	p.E2498D	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2497D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2497						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAGCCCGGAGCCCAAGGAGG	0.537																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7489-7491)gaG>gaT		myosin XVIIIB							62.0	66.0	64.0					22																	26423431		2008	4152	6160	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423431G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7494G>T	22.37:g.26423431G>T	ENSP00000386096:p.Glu2498Asp					MYO18B_ENST00000407587.2_Missense_Mutation_p.E2498D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D	p.E2497D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7741	+			2497					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7491G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.083909|3.083909	0.55861|0.55861	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.89343|.	-2.48;-2.48;-2.5|.	5.17|5.17	1.31|1.31	0.21738|0.21738	.|.	0.589854|.	0.15351|.	N|.	0.266962|.	T|T	0.42743|0.42743	0.1216|0.1216	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.67145|.	0.988;0.993;0.993;0.996;0.996|.	P;P;P;P;P|.	0.60609|.	0.829;0.757;0.757;0.877;0.877|.	T|T	0.31641|0.31641	-0.9936|-0.9936	10|5	0.54805|.	T|.	0.06|.	.|.	7.0998|7.0998	0.25330|0.25330	0.173:0.2663:0.5607:0.0|0.173:0.2663:0.5607:0.0	.|.	2010;2499;2497;2498;2497|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2497;2497;2498|447	ENSP00000441229:E2497D;ENSP00000334563:E2497D;ENSP00000386096:E2498D|.	ENSP00000334563:E2497D|.	E|S	+|+	3|2	2|0	MYO18B|MYO18B	24753431|24753431	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.761000|0.761000	0.43186|0.43186	0.422000|0.422000	0.21296|0.21296	0.537000|0.537000	0.28751|0.28751	0.561000|0.561000	0.74099|0.74099	GAG|AGC		0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		45	174	1	0	1.15505e-17	1	1.27701e-17	45	174				
AKR1CL1	340811	broad.mit.edu	37	10	5203856	5203856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5203856A>G	ENST00000334314.3	-	3	417	c.341T>C	c.(340-342)gTa>gCa	p.V114A	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	114						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GAAGAGATCTACATAGTCCGG	0.418																																					Ovarian(129;1623 1737 25446 28757 47467)	ENST00000334314.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(340-342)gTa>gCa		aldo-keto reductase family 1, member C-like 1							71.0	72.0	72.0					10																	5203856		2203	4300	6503	SO:0001583	missense	340811							g.chr10:5203856A>G			10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.341T>C	10.37:g.5203856A>G	ENSP00000334626:p.Val114Ala						p.V114A							3	417	-								A6NF66|Q6ZN81	Missense_Mutation	SNP	ENST00000334314.3	37	c.341T>C		.	.	.	.	.	.	.	.	.	.	A	17.32	3.359581	0.61403	.	.	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.56941	0.43;0.43	2.99	2.99	0.34606	.	0.314649	0.22098	U	0.064648	T	0.51075	0.1653	.	.	.	0.22842	N	0.998662	.	.	.	.	.	.	T	0.46414	-0.9193	7	0.62326	D	0.03	.	8.0303	0.30461	1.0:0.0:0.0:0.0	.	.	.	.	A	114	ENSP00000417935:V114A;ENSP00000334626:V114A	ENSP00000334626:V114A	V	-	2	0	AKR1CL1	5193856	0.448000	0.25681	0.041000	0.18516	0.194000	0.23727	4.951000	0.63610	1.333000	0.45449	0.260000	0.18958	GTA		0.418	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916		68	208	0	0	0	1	0	68	208				
SLC30A10	55532	broad.mit.edu	37	1	220091645	220091645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220091645C>T	ENST00000366926.3	-	3	1071	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	304					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGCAGAATGGCAGCGGTCTCC	0.463																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(910-912)Gcc>Acc		solute carrier family 30, member 10							147.0	150.0	149.0					1																	220091645		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091645C>T	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.910G>A	1.37:g.220091645C>T	ENSP00000355893:p.Ala304Thr					SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T|SLC30A10_ENST00000484079.1_5'UTR	p.A304T	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	1071	-			304					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.910G>A	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377786	0.42105	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.63744	-0.06;-0.06	6.01	0.302	0.15786	.	1.253450	0.05112	N	0.489145	T	0.42086	0.1187	N	0.17474	0.49	0.09310	N	1	B	0.16166	0.016	B	0.18871	0.023	T	0.21314	-1.0249	9	.	.	.	-4.4809	3.8409	0.08914	0.46:0.2313:0.0:0.3087	.	304	Q6XR72	ZNT10_HUMAN	T	304;59	ENSP00000355893:A304T;ENSP00000439489:A59T	.	A	-	1	0	SLC30A10	218158268	0.009000	0.17119	0.185000	0.23176	0.988000	0.76386	0.305000	0.19254	0.389000	0.25086	0.585000	0.79938	GCC		0.463	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		113	597	0	0	0	1	0	113	597				
MBD5	55777	broad.mit.edu	37	2	149248121	149248121	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248121C>T	ENST00000407073.1	+	12	5218	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	MBD5_ENST00000404807.1_Silent_p.D1640D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1407	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGAGAAGACGACGTTCACA	0.408																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(4219-4221)gaC>gaT		methyl-CpG binding domain protein 5							76.0	74.0	74.0					2																	149248121		2203	4300	6503	SO:0001819	synonymous_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149248121C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4221C>T	2.37:g.149248121C>T						MBD5_ENST00000404807.1_Silent_p.D1640D	p.D1407D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	5218	+			1407			PWWP.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.4221C>T	CCDS33302.1																																																																																				0.408	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			110	273	0	0	0	1	0	110	273				
KCNJ4	3761	broad.mit.edu	37	22	38823876	38823876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823876C>A	ENST00000303592.3	-	2	520	c.262G>T	c.(262-264)Gag>Tag	p.E88*	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	88					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGGCTGGCCTCCAGGTCACCG	0.672																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(262-264)Gag>Tag		potassium inwardly-rectifying channel, subfamily J, member 4							39.0	29.0	32.0					22																	38823876		2203	4299	6502	SO:0001587	stop_gained	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823876C>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.262G>T	22.37:g.38823876C>A	ENSP00000306497:p.Glu88*						p.E88*	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	520	-	Melanoma(58;0.0286)		88					Q14D44	Nonsense_Mutation	SNP	ENST00000303592.3	37	c.262G>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695931	0.96802	.	.	ENSG00000168135	ENST00000303592	.	.	.	4.8	4.8	0.61643	.	13.954000	0.01991	U	0.045513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.7734	0.63039	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000306497:E88X	E	-	1	0	KCNJ4	37153822	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.020000	0.70826	2.392000	0.81423	0.555000	0.69702	GAG		0.672	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		48	217	1	0	1.07234e-20	1	1.20343e-20	48	217				
TMEM59L	25789	broad.mit.edu	37	19	18724703	18724703	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724703G>A	ENST00000600490.1	+	3	378	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TMEM59L_ENST00000262817.3_Missense_Mutation_p.E65K			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	65						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGCGCCTCCGAGTCTCCCTA	0.672																																						ENST00000600490.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(193-195)Gag>Aag		transmembrane protein 59-like							36.0	43.0	41.0					19																	18724703		2203	4299	6502	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18724703G>A	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.193G>A	19.37:g.18724703G>A	ENSP00000470879:p.Glu65Lys					TMEM59L_ENST00000262817.3_Missense_Mutation_p.E65K	p.E65K			Q9UK28	TM59L_HUMAN			3	378	+			65						Missense_Mutation	SNP	ENST00000600490.1	37	c.193G>A	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.924166	0.18056	.	.	ENSG00000105696	ENST00000262817	T	0.43688	0.94	4.14	-0.859	0.10685	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.30387	-0.9980	9	0.08179	T	0.78	-13.9757	5.8679	0.18786	0.1846:0.2965:0.5188:0.0	.	65	Q9UK28	TM59L_HUMAN	K	65	ENSP00000262817:E65K	ENSP00000262817:E65K	E	+	1	0	TMEM59L	18585703	0.034000	0.19679	0.010000	0.14722	0.278000	0.26855	0.175000	0.16762	0.000000	0.14550	-0.305000	0.09177	GAG		0.672	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			99	451	0	0	0	1	0	99	451				
ICE2	79664	broad.mit.edu	37	15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(532-534)aTt>aGt		NMDA receptor regulated 2							44.0	50.0	48.0					15																	60748989		2200	4295	6495	SO:0001583	missense	79664					nucleus		g.chr15:60748989A>C																												ENST00000261520.4:c.533T>G	15.37:g.60748989A>C	ENSP00000261520:p.Ile178Ser					NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	p.I178S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			6	767	-			178						Missense_Mutation	SNP	ENST00000261520.4	37	c.533T>G	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168405	0.38315	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.4	5.4	0.78164	.	0.454000	0.25037	N	0.033625	T	0.32436	0.0829	N	0.19112	0.55	0.26481	N	0.975115	B;B	0.27625	0.13;0.183	B;B	0.31812	0.136;0.058	T	0.37009	-0.9724	9	0.72032	D	0.01	-14.449	13.1451	0.59456	1.0:0.0:0.0:0.0	.	41;178	G3V0H6;Q659A1	.;NARG2_HUMAN	S	178;41	.	ENSP00000261520:I178S	I	-	2	0	NARG2	58536281	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.967000	0.49216	2.193000	0.70182	0.454000	0.30748	ATT		0.303	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			35	208	0	0	0	1	0	35	208				
ZFHX3	463	broad.mit.edu	37	16	72821372	72821372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821372C>T	ENST00000268489.5	-	10	11475	c.10803G>A	c.(10801-10803)tcG>tcA	p.S3601S	ZFHX3_ENST00000397992.5_Silent_p.S2687S|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3601					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGCGGCGGCCGACGGGGGAG	0.652																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10801-10803)tcG>tcA		zinc finger homeobox 3							42.0	41.0	41.0					16																	72821372		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821372C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10803G>A	16.37:g.72821372C>T						ZFHX3_ENST00000397992.5_Silent_p.S2687S	p.S3601S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11475	-		Ovarian(137;0.13)	3601					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10803G>A	CCDS10908.1																																																																																				0.652	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		58	285	0	0	0	1	0	58	285				
DHX57	90957	broad.mit.edu	37	2	39030003	39030003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39030003G>A	ENST00000295373.6	-	23	3997	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1291							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAATACTCGACTAGTTTTT	0.473																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3871-3873)Cga>Tga		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							190.0	183.0	185.0					2																	39030003		2203	4300	6503	SO:0001587	stop_gained	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39030003G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3871C>T	2.37:g.39030003G>A	ENSP00000295373:p.Arg1291*						p.R1291*	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			23	3997	-		all_hematologic(82;0.248)	1291					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Nonsense_Mutation	SNP	ENST00000295373.6	37	c.3871C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.309689|5.309689	0.95629|0.95629	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|T	.|0.05717	.|3.4	5.64|5.64	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.48767|.	D|.	0.000166|.	.|T	.|0.18257	.|0.0438	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10520	.|-1.0626	.|5	0.06625|0.87932	T|D	0.88|0	.|.	14.431|14.431	0.67251|0.67251	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	.|.	.|.	.|.	X|L	1291|569	.|ENSP00000397841:S569L	ENSP00000295373:R1291X|ENSP00000397841:S569L	R|S	-|-	1|2	2|0	DHX57|DHX57	38883507|38883507	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.159000|0.159000	0.22180|0.22180	7.860000|7.860000	0.86993|0.86993	1.381000|1.381000	0.46364|0.46364	0.455000|0.455000	0.32223|0.32223	CGA|TCG		0.473	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		126	622	0	0	0	1	0	126	622				
ZNF133	7692	broad.mit.edu	37	20	18297174	18297174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297174G>T	ENST00000316358.4	+	4	1776	c.1679G>T	c.(1678-1680)gGc>gTc	p.G560V	ZNF133_ENST00000377671.3_Missense_Mutation_p.G559V|ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	560					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CTGGGCTTTGGCAATAAGTCA	0.562																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1675-1677)gGc>gTc		zinc finger protein 133							104.0	86.0	92.0					20																	18297174		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297174G>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1679G>T	20.37:g.18297174G>T	ENSP00000346090:p.Gly560Val					ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V|ZNF133_ENST00000316358.4_Missense_Mutation_p.G560V|ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V	p.G559V	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	2235	+			560					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.1676G>T		.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287488	0.05605	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.23	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.687394	0.13418	N	0.389409	T	0.25419	0.0618	N	0.20881	0.62	0.09310	N	0.999999	B;B;B;B	0.23540	0.087;0.039;0.064;0.052	B;B;B;B	0.32928	0.155;0.102;0.102;0.062	T	0.28332	-1.0047	10	0.20046	T	0.44	-4.9001	3.4811	0.07602	0.2924:0.0:0.5306:0.177	.	497;563;560;559	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	V	559;563;497;560;465;465;560	ENSP00000366899:G559V;ENSP00000400897:G563V;ENSP00000385279:G497V;ENSP00000383945:G560V;ENSP00000442978:G465V;ENSP00000439427:G465V;ENSP00000346090:G560V	ENSP00000346090:G560V	G	+	2	0	ZNF133	18245174	0.000000	0.05858	0.037000	0.18230	0.317000	0.28152	-0.640000	0.05440	0.309000	0.22966	0.655000	0.94253	GGC		0.562	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		51	238	1	0	1.86633e-21	1	2.10207e-21	51	238				
CAPNS2	84290	broad.mit.edu	37	16	55601237	55601237	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55601237A>G	ENST00000457326.2	+	1	654	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAACAACTTTACCAAATGATT	0.488																																						ENST00000457326.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(568-570)tAc>tGc		calpain, small subunit 2							143.0	140.0	141.0					16																	55601237		1891	4112	6003	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601237A>G	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.569A>G	16.37:g.55601237A>G	ENSP00000400882:p.Tyr190Cys					LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	p.Y190C	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN			1	654	+			190			EF-hand 3.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.569A>G	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627736	0.28978	.	.	ENSG00000256812	ENST00000457326	T	0.47177	0.85	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.42268	0.1195	L	0.42744	1.35	0.09310	N	0.999998	B	0.26809	0.16	B	0.26969	0.075	T	0.40664	-0.9551	9	0.62326	D	0.03	.	11.0497	0.47880	0.923:0.0:0.077:0.0	.	190	Q96L46	CPNS2_HUMAN	C	190	ENSP00000400882:Y190C	ENSP00000400882:Y190C	Y	+	2	0	CAPNS2	54158738	1.000000	0.71417	0.452000	0.26994	0.840000	0.47671	2.419000	0.44671	2.288000	0.76882	0.528000	0.53228	TAC		0.488	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		27	836	0	0	0	1	0	27	836				
TECTA	7007	broad.mit.edu	37	11	121060582	121060582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121060582C>A	ENST00000392793.1	+	23	6631	c.6360C>A	c.(6358-6360)agC>agA	p.S2120R	TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R			O75443	TECTA_HUMAN	tectorin alpha	2120					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGCAAGAGCTGCAGAGGTA	0.572																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(6358-6360)agC>agA		tectorin alpha							87.0	79.0	82.0					11																	121060582		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121060582C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6360C>A	11.37:g.121060582C>A	ENSP00000376543:p.Ser2120Arg					TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R	p.S2120R			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	23	6631	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	2120						Missense_Mutation	SNP	ENST00000392793.1	37	c.6360C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902110	0.72754	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.95756	-3.8;-3.8	5.71	3.52	0.40303	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	L	0.60957	1.885	0.44337	D	0.997229	D	0.71674	0.998	D	0.78314	0.991	D	0.96201	0.9145	10	0.87932	D	0	.	10.5441	0.45050	0.0:0.7674:0.0:0.2326	.	2120	O75443	TECTA_HUMAN	R	2120	ENSP00000376543:S2120R;ENSP00000264037:S2120R	ENSP00000264037:S2120R	S	+	3	2	TECTA	120565792	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.062000	0.49971	1.423000	0.47198	0.561000	0.74099	AGC		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		52	235	1	0	6.08268e-21	1	6.83416e-21	52	235				
OR10C1	442194	broad.mit.edu	37	6	29408712	29408712	+	Missense_Mutation	SNP	C	C	T	rs142718527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408712C>T	ENST00000444197.2	+	1	1630	c.920C>T	c.(919-921)aCg>aTg	p.T307M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T307M(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCCAGAAAACGGTGCCTATG	0.502																																						ENST00000444197.2																			1	Substitution - Missense(1)	p.T307M(1)	ovary(1)	NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(919-921)aCg>aTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)		C	MET/THR	2,3020		0,2,1509	87.0	92.0	91.0		920	2.2	0.4	6	dbSNP_134	91	0,5418		0,0,2709	no	missense	OR10C1	NM_013941.3	81	0,2,4218	TT,TC,CC		0.0,0.0662,0.0237	benign	307/313	29408712	2,8438	1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408712C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.920C>T	6.37:g.29408712C>T	ENSP00000419119:p.Thr307Met					OR11A1_ENST00000377149.1_Intron	p.T307M	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1630	+			307					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.920C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	0.366	-0.936656	0.02340	6.62E-4	0.0	ENSG00000206474	ENST00000444197	T	0.00051	8.81	3.44	2.16	0.27623	.	0.353536	0.20583	N	0.089488	T	0.00039	0.0001	N	0.21282	0.65	0.09310	N	0.999997	B	0.10296	0.003	B	0.04013	0.001	T	0.28427	-1.0044	10	0.39692	T	0.17	.	7.4689	0.27336	0.0:0.11:0.0:0.89	.	307	Q96KK4	O10C1_HUMAN	M	307	ENSP00000419119:T307M	ENSP00000419119:T307M	T	+	2	0	OR10C1	29516691	0.001000	0.12720	0.446000	0.26920	0.022000	0.10575	0.243000	0.18106	0.412000	0.25729	-0.312000	0.09012	ACG		0.502	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			97	395	0	0	0	1	0	97	395				
PLCH1	23007	broad.mit.edu	37	3	155286106	155286106	+	Missense_Mutation	SNP	T	T	C	rs200527299		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155286106T>C	ENST00000340059.7	-	6	742	c.743A>G	c.(742-744)aAt>aGt	p.N248S	PLCH1_ENST00000460012.1_Missense_Mutation_p.N230S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N248S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N230S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	248					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGTTGTCACATTATTCATCTA	0.318													T|||	1	0.000199681	0.0	0.0	5008	,	,		18785	0.0		0.001	False		,,,				2504	0.0					ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(688-690)aAt>aGt		phospholipase C, eta 1							65.0	64.0	65.0					3																	155286106		2201	4294	6495	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155286106T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.743A>G	3.37:g.155286106T>C	ENSP00000345988:p.Asn248Ser					PLCH1_ENST00000447496.2_Missense_Mutation_p.N248S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N230S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N248S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S	p.N230S			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		7	1046	-			248					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.689A>G	CCDS46939.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.91	2.676056	0.47886	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	5.54	5.54	0.83059	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.207947	0.47455	D	0.000227	T	0.21841	0.0526	L	0.50919	1.6	0.47276	D	0.999376	P;P;B	0.37370	0.537;0.592;0.013	B;B;B	0.41135	0.236;0.348;0.02	T	0.01684	-1.1296	10	0.30854	T	0.27	.	15.6779	0.77341	0.0:0.0:0.0:1.0	.	230;248;248	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	248;230;248;248;230;230	ENSP00000419100:N248S;ENSP00000417502:N230S;ENSP00000402759:N248S;ENSP00000345988:N248S;ENSP00000335469:N230S;ENSP00000412977:N230S	ENSP00000335469:N230S	N	-	2	0	PLCH1	156768800	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.489000	0.60309	2.099000	0.63709	0.533000	0.62120	AAT		0.318	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		5	89	0	0	0	1	0	5	89				
KIF26B	55083	broad.mit.edu	37	1	245850742	245850742	+	Missense_Mutation	SNP	C	C	A	rs201038043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850742C>A	ENST00000407071.2	+	12	4897	c.4457C>A	c.(4456-4458)cCg>cAg	p.P1486Q	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1105Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1486					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGCCCAGTCCGGGAGACAGG	0.627																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3313-3315)cCg>cAg		kinesin family member 26B							23.0	28.0	27.0					1																	245850742		2147	4254	6401	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850742C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4457C>A	1.37:g.245850742C>A	ENSP00000385545:p.Pro1486Gln					KIF26B_ENST00000407071.2_Missense_Mutation_p.P1486Q	p.P1105Q			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	3418	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1486					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3314C>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	5.181	0.218975	0.09810	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76316	-1.01;-1.0	5.42	5.42	0.78866	.	.	.	.	.	T	0.64091	0.2567	N	0.22421	0.69	0.09310	N	1	B;B	0.30193	0.272;0.128	B;B	0.24269	0.052;0.052	T	0.50725	-0.8794	9	0.19590	T	0.45	.	13.8387	0.63426	0.0:0.9263:0.0:0.0737	.	1105;1486	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Q	1486;1105;1102	ENSP00000385545:P1486Q;ENSP00000355475:P1105Q	ENSP00000355475:P1105Q	P	+	2	0	KIF26B	243917365	0.000000	0.05858	0.006000	0.13384	0.339000	0.28857	0.880000	0.28159	2.700000	0.92200	0.561000	0.74099	CCG		0.627	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		13	43	1	0	2.61681e-11	1	2.78987e-11	13	43				
TIAM2	26230	broad.mit.edu	37	6	155465849	155465849	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155465849G>T	ENST00000461783.3	+	8	3013	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D|TIAM2_ENST00000456144.1_Missense_Mutation_p.E580D|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	580	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGTTCCAGAGCATCCCAAGA	0.463																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1738-1740)gaG>gaT		T-cell lymphoma invasion and metastasis 2							150.0	138.0	142.0					6																	155465849		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155465849G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1740G>T	6.37:g.155465849G>T	ENSP00000437188:p.Glu580Asp					TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D|TIAM2_ENST00000456144.1_Missense_Mutation_p.E580D|TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D	p.E580D			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	8	3013	+		Ovarian(120;0.196)	580			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1740G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.348982	0.61183	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.81	-3.92	0.04155	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	L	0.42581	1.335	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.988;0.993	T	0.77384	-0.2608	10	0.54805	T	0.06	.	14.7676	0.69651	0.5628:0.0:0.4372:0.0	.	580;580	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	D	580;826;580;580;580;580;580	ENSP00000437188:E580D;ENSP00000434901:E580D;ENSP00000407746:E580D;ENSP00000327315:E580D;ENSP00000353528:E580D;ENSP00000433348:E580D	ENSP00000327315:E580D	E	+	3	2	TIAM2	155507541	0.977000	0.34250	0.233000	0.24025	0.698000	0.40448	0.222000	0.17699	-0.729000	0.04875	-1.057000	0.02308	GAG		0.463	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		10	477	1	0	7.48243e-07	1	7.73841e-07	10	477				
PKD1	5310	broad.mit.edu	37	16	2164529	2164529	+	Missense_Mutation	SNP	C	C	T	rs565256491		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164529C>T	ENST00000262304.4	-	11	2703	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	PKD1_ENST00000423118.1_Missense_Mutation_p.R832H|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	832					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGCCGTCGCGGGGGGCAGG	0.692													c|||	1	0.000199681	0.0	0.0	5008	,	,		14696	0.0		0.0	False		,,,				2504	0.001					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2494-2496)cGc>cAc		polycystic kidney disease 1 (autosomal dominant)							8.0	7.0	7.0					16																	2164529		1648	3207	4855	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164529C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2495G>A	16.37:g.2164529C>T	ENSP00000262304:p.Arg832His					PKD1_ENST00000423118.1_Missense_Mutation_p.R832H	p.R832H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			11	2703	-			832					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.2495G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	t	0.094	-1.162638	0.01673	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.34472	1.36;1.36	5.39	1.4	0.22301	Polycystin cation channel (1);	0.707453	0.14522	N	0.314417	T	0.08492	0.0211	N	0.00347	-1.61	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.35822	-0.9773	10	0.17369	T	0.5	.	6.2873	0.21041	0.37:0.074:0.0:0.556	.	832;832	P98161-3;P98161	.;PKD1_HUMAN	H	832	ENSP00000262304:R832H;ENSP00000399501:R832H	ENSP00000262304:R832H	R	-	2	0	PKD1	2104530	0.010000	0.17322	0.001000	0.08648	0.003000	0.03518	0.918000	0.28678	-0.032000	0.13758	-0.255000	0.11280	CGC		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			31	109	0	0	0	1	0	31	109				
NOP9	161424	broad.mit.edu	37	14	24771544	24771544	+	Nonsense_Mutation	SNP	C	C	T	rs573854331	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24771544C>T	ENST00000267425.3	+	5	1150	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Nonsense_Mutation_p.Q353*|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	353							poly(A) RNA binding (GO:0044822)										GGAGCACTTGCAGGGGCAGCT	0.572																																						ENST00000267425.3																			0											c.(1057-1059)Cag>Tag		NOP9 nucleolar protein							103.0	104.0	103.0					14																	24771544		2203	4300	6503	SO:0001587	stop_gained	161424							g.chr14:24771544C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1057C>T	14.37:g.24771544C>T	ENSP00000267425:p.Gln353*					NOP9_ENST00000396802.3_Nonsense_Mutation_p.Q353*	p.Q353*	NM_174913.1	NP_777573.1					5	1150	+								A8MY76|Q8IVF0|Q8TBS6	Nonsense_Mutation	SNP	ENST00000267425.3	37	c.1057C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	37	6.337055	0.97485	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	.	.	.	5.06	5.06	0.68205	.	0.119196	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7914	12.9542	0.58416	0.1627:0.8373:0.0:0.0	.	.	.	.	X	353	.	ENSP00000267425:Q353X	Q	+	1	0	C14orf21	23841384	0.951000	0.32395	1.000000	0.80357	0.980000	0.70556	1.283000	0.33237	2.626000	0.88956	0.557000	0.71058	CAG		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			127	589	0	0	0	1	0	127	589				
ABCA7	10347	broad.mit.edu	37	19	1043053	1043053	+	Missense_Mutation	SNP	G	G	A	rs541040666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043053G>A	ENST00000263094.6	+	8	824	c.593G>A	c.(592-594)cGc>cAc	p.R198H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	198					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.R198L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCGCTGCGCAGCCTGGTG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17346	0.0		0.0	False		,,,				2504	0.0					ENST00000263094.6																			1	Substitution - Missense(1)	p.R198L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(592-594)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 7							28.0	31.0	30.0					19																	1043053		2202	4298	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043053G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.593G>A	19.37:g.1043053G>A	ENSP00000263094:p.Arg198His					ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H	p.R198H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	824	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	198					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.593G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	5.419	0.262452	0.10294	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86562	-2.14;-2.14	4.1	1.92	0.25849	.	.	.	.	.	T	0.69566	0.3125	N	0.08118	0	0.18873	N	0.999986	B;B	0.33904	0.0;0.431	B;B	0.22152	0.0;0.038	T	0.59521	-0.7439	9	0.48119	T	0.1	.	7.3426	0.26646	0.1915:0.6197:0.1888:0.0	.	60;198	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	H	198	ENSP00000263094:R198H;ENSP00000414062:R198H	ENSP00000263094:R198H	R	+	2	0	ABCA7	994053	0.000000	0.05858	0.978000	0.43139	0.001000	0.01503	0.628000	0.24522	0.344000	0.23847	-1.964000	0.00472	CGC		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		39	237	0	0	0	1	0	39	237				
ZNF184	7738	broad.mit.edu	37	6	27420156	27420156	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420156T>G	ENST00000211936.6	-	6	1466	c.1182A>C	c.(1180-1182)gaA>gaC	p.E394D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCTTTCCACATTCATTACATT	0.378																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1180-1182)gaA>gaC		zinc finger protein 184							55.0	57.0	56.0					6																	27420156		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420156T>G	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1182A>C	6.37:g.27420156T>G	ENSP00000211936:p.Glu394Asp					ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	p.E394D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1466	-			394					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1182A>C	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820190	0.50633	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.18338	2.22;2.22	5.26	0.0295	0.14163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000104	T	0.03783	0.0107	L	0.39326	1.205	0.25791	N	0.984612	B	0.19200	0.034	B	0.20767	0.031	T	0.36212	-0.9757	10	0.40728	T	0.16	.	4.1982	0.10453	0.1421:0.2472:0.0:0.6107	.	394	Q99676	ZN184_HUMAN	D	394	ENSP00000211936:E394D;ENSP00000366636:E394D	ENSP00000211936:E394D	E	-	3	2	ZNF184	27528135	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	-3.957000	0.00325	0.150000	0.19136	0.528000	0.53228	GAA		0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		60	224	0	0	0	1	0	60	224				
ZNF628	89887	broad.mit.edu	37	19	55993021	55993021	+	Missense_Mutation	SNP	C	C	A	rs369974817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55993021C>A	ENST00000598519.1	+	3	1014	c.461C>A	c.(460-462)cCc>cAc	p.P154H	ZNF628_ENST00000391718.2_Missense_Mutation_p.P150H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	154					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCGGACTGCCCCAAGGCCTTC	0.667																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(448-450)cCc>cAc		zinc finger protein 628							32.0	33.0	33.0					19																	55993021		2203	4297	6500	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55993021C>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.461C>A	19.37:g.55993021C>A	ENSP00000469591:p.Pro154His					ZNF628_ENST00000598519.1_Missense_Mutation_p.P154H	p.P150H			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1014	+	Breast(117;0.155)		150					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.449C>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	8.323	0.824725	0.16678	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.62	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.335977	0.21947	U	0.066785	T	0.14056	0.0340	L	0.38531	1.155	0.22842	N	0.998663	D	0.67145	0.996	D	0.64237	0.923	T	0.04333	-1.0959	10	0.72032	D	0.01	-23.133	7.3843	0.26874	0.1768:0.5201:0.3031:0.0	.	150	Q5EBL2	ZN628_HUMAN	H	150	ENSP00000375598:P150H	ENSP00000375598:P150H	P	+	2	0	ZNF628	60684833	0.335000	0.24748	0.996000	0.52242	0.002000	0.02628	0.487000	0.22356	0.355000	0.24131	-1.997000	0.00446	CCC		0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		31	184	1	0	3.80469e-20	1	4.25708e-20	31	184				
RCBTB1	55213	broad.mit.edu	37	13	50141409	50141409	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50141409C>T	ENST00000378302.2	-	3	267	c.7G>A	c.(7-9)Gat>Aat	p.D3N	RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N|RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	3					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|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;4.7e-09)		TTTCCGACATCCACCATGACT	0.468																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(7-9)Gat>Aat		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							112.0	105.0	107.0					13																	50141409		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50141409C>T	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.7G>A	13.37:g.50141409C>T	ENSP00000367552:p.Asp3Asn					RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N|RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N	p.D3N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	3	267	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	3					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.7G>A	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	C	36	5.873139	0.97049	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	T;T;T	0.47528	1.07;1.07;0.84	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.66939	2.045	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.67189	-0.5733	10	0.87932	D	0	-22.2148	20.1466	0.98079	0.0:1.0:0.0:0.0	.	3	Q8NDN9	RCBT1_HUMAN	N	3	ENSP00000258646:D3N;ENSP00000367552:D3N;ENSP00000443293:D3N	ENSP00000258646:D3N	D	-	1	0	RCBTB1	49039410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.396000	0.79891	2.779000	0.95612	0.591000	0.81541	GAT		0.468	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		39	285	0	0	0	1	0	39	285				
USP28	57646	broad.mit.edu	37	11	113683039	113683039	+	Missense_Mutation	SNP	C	C	T	rs370538899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683039C>T	ENST00000003302.4	-	16	1999	c.1931G>A	c.(1930-1932)tGt>tAt	p.C644Y	USP28_ENST00000544967.1_Missense_Mutation_p.C352Y|USP28_ENST00000545540.1_Missense_Mutation_p.C519Y|USP28_ENST00000260188.5_Missense_Mutation_p.C644Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	644	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GTACATCAGACAGTAAGCACT	0.413																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1930-1932)tGt>tAt		ubiquitin specific peptidase 28							117.0	111.0	113.0					11																	113683039		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683039C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1931G>A	11.37:g.113683039C>T	ENSP00000003302:p.Cys644Tyr					USP28_ENST00000544967.1_Missense_Mutation_p.C352Y|USP28_ENST00000260188.5_Missense_Mutation_p.C644Y|USP28_ENST00000545540.1_Missense_Mutation_p.C519Y	p.C644Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1999	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	644					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1931G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483135	0.84747	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.0	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.53561	1.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54443	-0.8293	10	0.72032	D	0.01	-15.4412	18.491	0.90848	0.0:1.0:0.0:0.0	.	519;644;352	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	Y	644;644;352;519;348	ENSP00000003302:C644Y;ENSP00000260188:C644Y;ENSP00000442431:C352Y;ENSP00000444991:C519Y;ENSP00000442257:C348Y	ENSP00000003302:C644Y	C	-	2	0	USP28	113188249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.270000	0.78493	2.585000	0.87301	0.655000	0.94253	TGT		0.413	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			54	356	0	0	0	1	0	54	356				
DLGAP4	22839	broad.mit.edu	37	20	35154346	35154346	+	Silent	SNP	C	C	T	rs147941086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35154346C>T	ENST00000373907.2	+	11	2896	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000339266.5_Silent_p.F899F|DLGAP4_ENST00000373913.3_Silent_p.F896F|DLGAP4_ENST00000401952.2_Silent_p.F896F|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.F360F|RP5-977B1.7_ENST00000433238.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	899					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGAAGTTCGATGAACTCT	0.607																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2686-2688)ttC>ttT		discs, large (Drosophila) homolog-associated protein 4		T	,,	1,4405	2.1+/-5.4	0,1,2202	104.0	99.0	100.0		576,2688,1080	-1.0	1.0	20	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DLGAP4	NM_001042486.2,NM_014902.4,NM_183006.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	192/286,896/990,360/454	35154346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35154346C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2697C>T	20.37:g.35154346C>T						DLGAP4_ENST00000339266.5_Silent_p.F899F|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.F896F|DLGAP4_ENST00000373907.2_Silent_p.F899F|DLGAP4_ENST00000340491.4_Silent_p.F360F	p.F896F			Q9Y2H0	DLGP4_HUMAN			12	3168	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	899					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.2688C>T																																																																																					0.607	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		150	479	0	0	0	1	0	150	479				
GJB2	2706	broad.mit.edu	37	13	20763277	20763277	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20763277G>A	ENST00000382844.1	-	1	642	c.444C>T	c.(442-444)gcC>gcT	p.A148A	GJB2_ENST00000382848.4_Silent_p.A148A			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	148			A -> P. {ECO:0000269|PubMed:15954104}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ACATGAAGGCGGCTTCGAAGA	0.542									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382844.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(442-444)gcC>gcT		gap junction protein, beta 2, 26kDa							113.0	100.0	104.0					13																	20763277		2203	4300	6503	SO:0001819	synonymous_variant	0	Keratitis, Ichthyosis and Deafness syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763277G>A	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.444C>T	13.37:g.20763277G>A			OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	GJB2_ENST00000382848.4_Silent_p.A148A	p.A148A			P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	1	642	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	148					Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Silent	SNP	ENST00000382844.1	37	c.444C>T	CCDS9290.1																																																																																				0.542	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			58	312	0	0	0	1	0	58	312				
NWD1	284434	broad.mit.edu	37	19	16905360	16905360	+	Silent	SNP	C	C	T	rs201898485		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16905360C>T	ENST00000552788.1	+	13	3300	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000524140.2_Silent_p.A1100A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCCTCGCCGCAGGTAGCG	0.547																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3298-3300)gcC>gcT		NACHT and WD repeat domain containing 1							83.0	65.0	71.0					19																	16905360		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16905360C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3300C>T	19.37:g.16905360C>T						NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000379808.3_Silent_p.A1100A	p.A1100A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			15	3718	+			1100					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3300C>T																																																																																					0.547	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		8	52	0	0	0	1	0	8	52				
SLC10A1	6554	broad.mit.edu	37	14	70252875	70252875	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252875G>T	ENST00000216540.4	-	2	639	c.506C>A	c.(505-507)cCt>cAt	p.P169H		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	169					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	TATGGTGCAAGGAATGAGAAC	0.493																																						ENST00000216540.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14						c.(505-507)cCt>cAt		solute carrier family 10 (sodium/bile acid cotransporter), member 1							226.0	186.0	200.0					14																	70252875		2203	4300	6503	SO:0001583	missense	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70252875G>T	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.506C>A	14.37:g.70252875G>T	ENSP00000216540:p.Pro169His						p.P169H	NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	2	639	-			169					B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	c.506C>A	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450879	0.43531	.	.	ENSG00000100652	ENST00000216540	T	0.76709	-1.04	4.89	4.89	0.63831	.	0.176981	0.50627	D	0.000110	D	0.87394	0.6166	H	0.96430	3.82	0.58432	D	0.999997	P	0.39809	0.689	B	0.42882	0.401	D	0.91155	0.4956	10	0.87932	D	0	-16.08	18.2073	0.89859	0.0:0.0:1.0:0.0	.	169	Q14973	NTCP_HUMAN	H	169	ENSP00000216540:P169H	ENSP00000216540:P169H	P	-	2	0	SLC10A1	69322628	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	9.024000	0.93689	2.700000	0.92200	0.561000	0.74099	CCT		0.493	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			82	367	1	0	4.03997e-35	1	4.81766e-35	82	367				
FCGRT	2217	broad.mit.edu	37	19	50027917	50027917	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50027917A>G	ENST00000221466.5	+	5	1241	c.755A>G	c.(754-756)aAc>aGc	p.N252S	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	252	Alpha-3.|Ig-like C1-type.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCGGCCCCAACAGTGACGGA	0.632																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(754-756)aAc>aGc		Fc fragment of IgG, receptor, transporter, alpha							79.0	66.0	70.0					19																	50027917		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50027917A>G	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.755A>G	19.37:g.50027917A>G	ENSP00000221466:p.Asn252Ser					FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S	p.N252S	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	5	1241	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	252			Alpha-3.		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.755A>G	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	A	7.758	0.704719	0.15172	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00623	6.15;6.15	4.31	3.3	0.37823	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000176	T	0.01976	0.0062	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62186	-0.6907	10	0.59425	D	0.04	.	6.6251	0.22824	0.8912:0.0:0.1088:0.0	.	252	P55899	FCGRN_HUMAN	S	252	ENSP00000221466:N252S;ENSP00000410798:N252S	ENSP00000221466:N252S	N	+	2	0	FCGRT	54719729	0.997000	0.39634	0.762000	0.31397	0.105000	0.19272	3.973000	0.56845	0.817000	0.34445	0.379000	0.24179	AAC		0.632	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			14	349	0	0	0	1	0	14	349				
MAP1A	4130	broad.mit.edu	37	15	43817488	43817488	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43817488T>C	ENST00000300231.5	+	4	4267	c.3817T>C	c.(3817-3819)Tac>Cac	p.Y1273H	MAP1A_ENST00000382031.1_Missense_Mutation_p.Y1511H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1273					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAACTCGATACTCTGCACA	0.537																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4531-4533)Tac>Cac		microtubule-associated protein 1A	Estramustine(DB01196)						94.0	105.0	101.0					15																	43817488		2146	4257	6403	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817488T>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3817T>C	15.37:g.43817488T>C	ENSP00000300231:p.Tyr1273His					MAP1A_ENST00000300231.5_Missense_Mutation_p.Y1273H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H	p.Y1511H			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4562	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1273					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4531T>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639184	0.29157	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.89	2.45	0.29901	.	.	.	.	.	T	0.01765	0.0056	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49390	-0.8945	9	0.15952	T	0.53	-2.1529	1.6221	0.02716	0.1669:0.1003:0.3468:0.3861	.	1273	P78559	MAP1A_HUMAN	H	1511;1273;1273	ENSP00000371462:Y1511H;ENSP00000382380:Y1273H;ENSP00000300231:Y1273H	ENSP00000300231:Y1273H	Y	+	1	0	MAP1A	41604780	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	0.119000	0.15626	0.855000	0.35359	0.460000	0.39030	TAC		0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		52	263	0	0	0	1	0	52	263				
KCTD3	51133	broad.mit.edu	37	1	215775224	215775224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215775224C>A	ENST00000259154.4	+	11	1243	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	317					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGATGTTGTTCCTATAACTAG	0.328																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(949-951)Cct>Act		potassium channel tetramerization domain containing 3							100.0	93.0	95.0					1																	215775224		2203	4299	6502	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215775224C>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.949C>A	1.37:g.215775224C>A	ENSP00000259154:p.Pro317Thr						p.P317T	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	11	1243	+			317					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.949C>A	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361649	0.82353	.	.	ENSG00000136636	ENST00000259154	T	0.06768	3.26	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	0.999;0.984;1.0;0.996	D;P;D;P	0.79108	0.964;0.813;0.992;0.885	T	0.00923	-1.1513	10	0.56958	D	0.05	-26.1819	18.4266	0.90611	0.0:1.0:0.0:0.0	.	69;69;317;317	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	T	317	ENSP00000259154:P317T	ENSP00000259154:P317T	P	+	1	0	KCTD3	213841847	1.000000	0.71417	0.897000	0.35233	0.991000	0.79684	7.487000	0.81328	2.600000	0.87896	0.467000	0.42956	CCT		0.328	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		48	227	1	0	1.21353e-23	1	1.38083e-23	48	227				
DDX60L	91351	broad.mit.edu	37	4	169343747	169343747	+	Silent	SNP	G	G	A	rs553072291		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169343747G>A	ENST00000511577.1	-	16	2419	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	DDX60L_ENST00000260184.7_Silent_p.G724G|DDX60L_ENST00000505890.1_Silent_p.G724G			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	724							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAAGTAATGGCCCATGTATT	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17879	0.0		0.0	False		,,,				2504	0.0					ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2170-2172)ggC>ggT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							112.0	119.0	117.0					4																	169343747		2129	4291	6420	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169343747G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2172C>T	4.37:g.169343747G>A						DDX60L_ENST00000260184.7_Silent_p.G724G|DDX60L_ENST00000505890.1_Silent_p.G724G	p.G724G			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	16	2419	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	724					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.2172C>T																																																																																					0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		25	102	0	0	0	1	0	25	102				
AFG3L2	10939	broad.mit.edu	37	18	12367285	12367285	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12367285C>A	ENST00000269143.3	-	4	620	c.389G>T	c.(388-390)aGg>aTg	p.R130M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	130					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CTTCTGAAACCTGGACCACCA	0.488																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(388-390)aGg>aTg		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						183.0	169.0	174.0					18																	12367285		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12367285C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.389G>T	18.37:g.12367285C>A	ENSP00000269143:p.Arg130Met						p.R130M	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			4	620	-			130					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.389G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923707	0.92319	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.93247	-3.19	5.72	5.72	0.89469	Peptidase M41, FtsH (1);	0.044203	0.85682	D	0.000000	D	0.95373	0.8498	M	0.75777	2.31	0.80722	D	1	D	0.56287	0.975	P	0.53593	0.73	D	0.94306	0.7541	10	0.38643	T	0.18	1.8025	19.4597	0.94912	0.0:1.0:0.0:0.0	.	130	Q9Y4W6	AFG32_HUMAN	M	130;145	ENSP00000269143:R130M	ENSP00000269143:R130M	R	-	2	0	AFG3L2	12357285	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.641000	0.74324	2.702000	0.92279	0.655000	0.94253	AGG		0.488	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		12	567	1	0	2.27111e-07	1	2.35674e-07	12	567				
ZNF155	7711	broad.mit.edu	37	19	44501451	44501451	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44501451A>C	ENST00000270014.2	+	5	1570	c.1442A>C	c.(1441-1443)aAa>aCa	p.K481T	RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T|ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	481					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CACTGCCAGAAAAAACCATTC	0.453																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(1441-1443)aAa>aCa		zinc finger protein 155							89.0	95.0	93.0					19																	44501451		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44501451A>C	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1442A>C	19.37:g.44501451A>C	ENSP00000270014:p.Lys481Thr					RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T	p.K481T	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			5	1570	+		Prostate(69;0.0352)	481					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.1442A>C	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554531	0.45487	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.11277	2.79;2.79	2.83	2.83	0.33086	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	N	0.25380	0.74	0.09310	N	1	P;P	0.42296	0.775;0.605	P;P	0.51297	0.665;0.665	T	0.12811	-1.0533	9	0.87932	D	0	.	10.1978	0.43065	1.0:0.0:0.0:0.0	.	492;481	B4DM95;Q12901	.;ZN155_HUMAN	T	492;481	ENSP00000385163:K492T;ENSP00000270014:K481T	ENSP00000270014:K481T	K	+	2	0	ZNF155	49193291	0.988000	0.35896	0.005000	0.12908	0.083000	0.17756	3.462000	0.53042	1.279000	0.44446	0.459000	0.35465	AAA		0.453	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		143	600	0	0	0	1	0	143	600				
NCOR1	9611	broad.mit.edu	37	17	16049816	16049816	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16049816T>C	ENST00000268712.3	-	10	1213	c.956A>G	c.(955-957)gAg>gGg	p.E319G	NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G|NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	319	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CACTTTTTTCTCCCATGCCTC	0.343																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(955-957)gAg>gGg		nuclear receptor corepressor 1							113.0	106.0	108.0					17																	16049816		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16049816T>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.956A>G	17.37:g.16049816T>C	ENSP00000268712:p.Glu319Gly					NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G|NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G	p.E319G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	10	1213	-			319			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.956A>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751672	0.49362	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	L	0.44542	1.39	0.80722	D	1	D;D;D;P;D;D	0.89917	0.974;0.974;0.974;0.92;0.978;1.0	P;P;P;P;P;D	0.85130	0.776;0.776;0.776;0.573;0.867;0.997	D	0.87494	0.2429	10	0.87932	D	0	-11.7257	15.2981	0.73925	0.0:0.0:0.0:1.0	.	328;319;319;210;319;319	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	G	319;319;210;328;210;319;328	ENSP00000268712:E319G;ENSP00000379192:E319G;ENSP00000379189:E210G;ENSP00000407998:E319G;ENSP00000387727:E328G	ENSP00000268712:E319G	E	-	2	0	NCOR1	15990541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.270000	0.75569	0.459000	0.35465	GAG		0.343	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		65	251	0	0	0	1	0	65	251				
ARHGAP12	94134	broad.mit.edu	37	10	32099638	32099638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32099638C>A	ENST00000344936.2	-	16	2223	c.1989G>T	c.(1987-1989)caG>caT	p.Q663H	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.Q633H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	663	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CATTCTCTCTCTGACACAGAT	0.323																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(1897-1899)caG>caT		Rho GTPase activating protein 12							122.0	122.0	122.0					10																	32099638		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32099638C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1989G>T	10.37:g.32099638C>A	ENSP00000345808:p.Gln663His					ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q663H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000492028.1_5'UTR	p.Q633H	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			14	2140	-		Prostate(175;0.0199)	663					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1899G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832659	0.32421	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.55	3.68	0.42216	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.054607	0.85682	D	0.000000	T	0.31263	0.0791	L	0.31926	0.97	0.53688	D	0.999977	B;B;B;B;B	0.31752	0.124;0.095;0.228;0.228;0.338	B;B;B;B;B	0.30029	0.052;0.056;0.051;0.051;0.11	T	0.12760	-1.0535	10	0.87932	D	0	.	10.4217	0.44354	0.0:0.7548:0.0:0.2452	.	616;633;658;663;611	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;RHG12_HUMAN;.	H	611;633;663;658;611	ENSP00000310984:Q611H;ENSP00000364399:Q633H;ENSP00000345808:Q663H;ENSP00000379448:Q658H;ENSP00000364394:Q611H	ENSP00000310984:Q611H	Q	-	3	2	ARHGAP12	32139644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.987000	0.29603	0.724000	0.32296	-1.151000	0.01829	CAG		0.323	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			45	296	1	0	1.17673e-23	1	1.33956e-23	45	296				
OPN4	94233	broad.mit.edu	37	10	88419688	88419688	+	Silent	SNP	C	C	T	rs141316756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88419688C>T	ENST00000241891.5	+	6	1004	c.837C>T	c.(835-837)ggC>ggT	p.G279G	OPN4_ENST00000372071.2_Silent_p.G290G	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	279					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGGGCAATGGCGAGTCCCTGT	0.632																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(868-870)ggC>ggT		opsin 4							103.0	75.0	84.0					10																	88419688		2203	4300	6503	SO:0001819	synonymous_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419688C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.837C>T	10.37:g.88419688C>T						OPN4_ENST00000241891.5_Silent_p.G279G	p.G290G	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			7	1097	+			279					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	c.870C>T	CCDS7376.1																																																																																				0.632	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		49	267	0	0	0	1	0	49	267				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	287	0	0	0	1	0	7	287				
ADAM7	8756	broad.mit.edu	37	8	24342814	24342814	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24342814G>A	ENST00000175238.6	+	10	983	c.900G>A	c.(898-900)gtG>gtA	p.V300V	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V300V|ADAM7_ENST00000520720.1_Silent_p.V72V|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	300	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V300V(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTCACATGTGCAAGGAATTT	0.353																																						ENST00000175238.6																			1	Substitution - coding silent(1)	p.V300V(1)	large_intestine(1)	NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(898-900)gtG>gtA		ADAM metallopeptidase domain 7							153.0	147.0	149.0					8																	24342814		2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24342814G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.900G>A	8.37:g.24342814G>A						ADAM7_ENST00000380789.1_Silent_p.V300V|ADAM7_ENST00000520720.1_Silent_p.V72V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.V300V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	10	983	+		Prostate(55;0.0181)	300			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.900G>A	CCDS6045.1																																																																																				0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		81	479	0	0	0	1	0	81	479				
FBN3	84467	broad.mit.edu	37	19	8175947	8175947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8175947C>T	ENST00000600128.1	-	33	4619	c.4205G>A	c.(4204-4206)tGc>tAc	p.C1402Y	FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y|FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y			Q75N90	FBN3_HUMAN	fibrillin 3	1402	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTACCCTGGCAGGCCCGGTG	0.667																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4204-4206)tGc>tAc		fibrillin 3							54.0	51.0	52.0					19																	8175947		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175947C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4205G>A	19.37:g.8175947C>T	ENSP00000470498:p.Cys1402Tyr					FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y|FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y	p.C1402Y			Q75N90	FBN3_HUMAN			33	4619	-			1402			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4205G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770983	0.49680	.	.	ENSG00000142449	ENST00000270509	D	0.99445	-5.91	3.67	3.67	0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99654	0.9872	H	0.95745	3.715	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97366	0.9973	10	0.87932	D	0	.	15.7061	0.77583	0.0:1.0:0.0:0.0	.	1402	Q75N90	FBN3_HUMAN	Y	1402	ENSP00000270509:C1402Y	ENSP00000270509:C1402Y	C	-	2	0	FBN3	8081947	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	7.091000	0.76923	1.758000	0.51981	0.462000	0.41574	TGC		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		33	208	0	0	0	1	0	33	208				
SNRNP40	9410	broad.mit.edu	37	1	31766156	31766156	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31766156G>A	ENST00000263694.4	-	2	199	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	SNRNP40_ENST00000446633.2_Silent_p.L61L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	61					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCAGAGAGCAGCATGATTGGG	0.478																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(181-183)Ctg>Ttg		small nuclear ribonucleoprotein 40kDa (U5)							90.0	75.0	80.0					1																	31766156		2203	4300	6503	SO:0001819	synonymous_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31766156G>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.181C>T	1.37:g.31766156G>A						SNRNP40_ENST00000446633.2_Silent_p.L61L	p.L61L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			2	199	-			61					B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	c.181C>T	CCDS340.1																																																																																				0.478	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		32	169	0	0	0	1	0	32	169				
SORCS3	22986	broad.mit.edu	37	10	107016608	107016608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:107016608C>T	ENST00000369701.3	+	25	3596	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1123					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGGGCACAGCAGCTCAGCCA	0.428																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3367-3369)agC>agT		sortilin-related VPS10 domain containing receptor 3							159.0	134.0	143.0					10																	107016608		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107016608C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3369C>T	10.37:g.107016608C>T							p.S1123S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	25	3596	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1123					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.3369C>T	CCDS7558.1																																																																																				0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		34	157	0	0	0	1	0	34	157				
EVC2	132884	broad.mit.edu	37	4	5620298	5620298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5620298G>A	ENST00000344408.5	-	15	2666	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	EVC2_ENST00000344938.1_Silent_p.I871I|EVC2_ENST00000310917.2_Silent_p.I791I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	871					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCGGGCCCGGATCTTGGGGA	0.602																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(2371-2373)atC>atT		Ellis van Creveld syndrome 2							42.0	41.0	41.0					4																	5620298		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5620298G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2613C>T	4.37:g.5620298G>A						EVC2_ENST00000344408.5_Silent_p.I871I|EVC2_ENST00000344938.1_Silent_p.I871I	p.I791I	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			15	3104	-			871					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.2373C>T	CCDS3382.2																																																																																				0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		34	147	0	0	0	1	0	34	147				
LIFR	3977	broad.mit.edu	37	5	38482250	38482250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38482250C>T	ENST00000263409.4	-	20	2903	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R914Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	914					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAATGCTGATCGAGTTTCCAG	0.388			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2740-2742)cGa>cAa		leukemia inhibitory factor receptor alpha							75.0	77.0	76.0					5																	38482250		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38482250C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2741G>A	5.37:g.38482250C>T	ENSP00000263409:p.Arg914Gln					LIFR_ENST00000453190.2_Missense_Mutation_p.R914Q	p.R914Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	2903	-	all_lung(31;0.00021)		914					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2741G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908359	0.17833	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54866	0.55;0.55	6.06	3.18	0.36537	.	0.508601	0.18595	N	0.136622	T	0.22589	0.0545	N	0.13043	0.29	0.09310	N	1	B	0.31599	0.33	B	0.16722	0.016	T	0.06232	-1.0838	10	0.12103	T	0.63	-4.1353	0.7763	0.01033	0.1789:0.3905:0.174:0.2566	.	914	P42702	LIFR_HUMAN	Q	914	ENSP00000263409:R914Q;ENSP00000398368:R914Q	ENSP00000263409:R914Q	R	-	2	0	LIFR	38518007	0.001000	0.12720	0.001000	0.08648	0.427000	0.31564	0.036000	0.13819	0.795000	0.33922	0.650000	0.86243	CGA		0.388	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		13	510	0	0	0	1	0	13	510				
FSIP1	161835	broad.mit.edu	37	15	40018892	40018892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40018892C>A	ENST00000350221.3	-	9	1157	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	316										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GCTGCTGATGCTGGGTGACTG	0.443																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(946-948)caG>caT		fibrous sheath interacting protein 1							87.0	83.0	85.0					15																	40018892		2203	4300	6503	SO:0001583	missense	161835							g.chr15:40018892C>A	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.948G>T	15.37:g.40018892C>A	ENSP00000280236:p.Gln316His						p.Q316H	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	9	1157	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	316					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.948G>T	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451852	0.43531	.	.	ENSG00000150667	ENST00000350221	T	0.24350	1.86	4.58	4.58	0.56647	.	0.540943	0.18233	N	0.147512	T	0.40886	0.1135	L	0.60455	1.87	0.30993	N	0.72124	P	0.52061	0.95	P	0.57620	0.824	T	0.30119	-0.9989	9	.	.	.	-3.3257	13.1909	0.59711	0.0:1.0:0.0:0.0	.	316	Q8NA03	FSIP1_HUMAN	H	316	ENSP00000280236:Q316H	.	Q	-	3	2	FSIP1	37806184	0.995000	0.38212	0.895000	0.35142	0.198000	0.23893	3.018000	0.49625	2.832000	0.97577	0.655000	0.94253	CAG		0.443	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		51	191	1	0	6.08268e-21	1	6.83416e-21	51	191				
MSC	9242	broad.mit.edu	37	8	72755888	72755888	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72755888C>T	ENST00000325509.4	-	1	815	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H|RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	176					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ACCAGGTTCACTGGGTGCACG	0.657											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(526-528)Gtg>Atg		musculin							32.0	35.0	34.0					8																	72755888		2188	4292	6480	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72755888C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.526G>A	8.37:g.72755888C>T	ENSP00000321445:p.Val176Met		OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H	p.V176M	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	815	-	Breast(64;0.176)		176					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.526G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997270	0.93167	.	.	ENSG00000178860	ENST00000325509	D	0.88046	-2.33	5.07	5.07	0.68467	Helix-loop-helix DNA-binding (1);	0.060231	0.64402	D	0.000003	D	0.91855	0.7422	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.92441	0.5962	10	0.62326	D	0.03	.	18.4569	0.90724	0.0:1.0:0.0:0.0	.	176	O60682	MUSC_HUMAN	M	176	ENSP00000321445:V176M	ENSP00000321445:V176M	V	-	1	0	MSC	72918442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.636000	0.83301	2.365000	0.80145	0.555000	0.69702	GTG		0.657	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		54	284	0	0	0	1	0	54	284				
SEMA5A	9037	broad.mit.edu	37	5	9122771	9122771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9122771G>A	ENST00000382496.5	-	14	2443	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	593	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCACACCTGGAACAGTTGGC	0.567																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1777-1779)tCc>tTc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							38.0	42.0	41.0					5																	9122771		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122771G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1778C>T	5.37:g.9122771G>A	ENSP00000371936:p.Ser593Phe						p.S593F	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			14	2443	-			593			TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1778C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509239	0.85282	.	.	ENSG00000112902	ENST00000382496	T	0.37584	1.19	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60000	-0.7348	10	0.87932	D	0	.	15.7617	0.78087	0.0:0.0:1.0:0.0	.	593	Q13591	SEM5A_HUMAN	F	593	ENSP00000371936:S593F	ENSP00000371936:S593F	S	-	2	0	SEMA5A	9175771	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.587000	0.98229	2.388000	0.81334	0.557000	0.71058	TCC		0.567	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			64	262	0	0	0	1	0	64	262				
FYCO1	79443	broad.mit.edu	37	3	46008354	46008354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008354T>G	ENST00000296137.2	-	8	2677	c.2472A>C	c.(2470-2472)aaA>aaC	p.K824N	FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	824					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCACAAGGGTTTTGTGCTCCC	0.607																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2470-2472)aaA>aaC		FYVE and coiled-coil domain containing 1							78.0	74.0	75.0					3																	46008354		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008354T>G	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2472A>C	3.37:g.46008354T>G	ENSP00000296137:p.Lys824Asn					FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	p.K824N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2677	-			824					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2472A>C	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.332887	0.24167	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23552	1.9;1.91	5.66	1.39	0.22231	.	0.532153	0.21892	N	0.067569	T	0.21761	0.0524	L	0.54323	1.7	0.09310	N	1	P;P	0.51653	0.947;0.736	B;B	0.40444	0.329;0.205	T	0.14476	-1.0471	10	0.31617	T	0.26	-25.2254	10.9744	0.47456	0.0:0.6381:0.0:0.3619	.	824;824	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	824	ENSP00000296137:K824N;ENSP00000441178:K824N	ENSP00000296137:K824N	K	-	3	2	FYCO1	45983358	0.015000	0.18098	0.196000	0.23383	0.560000	0.35617	0.498000	0.22530	0.360000	0.24265	-0.132000	0.14878	AAA		0.607	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		30	309	0	0	0	1	0	30	309				
NRP2	8828	broad.mit.edu	37	2	206657010	206657010	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206657010G>A	ENST00000357785.5	+	16	2507		c.e16+1		NRP2_ENST00000540178.1_Splice_Site|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000360409.3_Splice_Site|NRP2_ENST00000412873.2_Intron			Q99435	NELL2_HUMAN	neuropilin 2							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAAATTGATGGTGAGTACTGT	0.333																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.e16+1		neuropilin 2							159.0	166.0	164.0					2																	206657010		2203	4300	6503	SO:0001630	splice_region_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206657010G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2476+1G>A	2.37:g.206657010G>A						NRP2_ENST00000540841.1_Intron|NRP2_ENST00000357785.5_Splice_Site|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Splice_Site		NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			16	3282	+								B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Splice_Site	SNP	ENST00000357785.5	37		CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787777	0.70337	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000357785	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRP2	206365255	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.542000	0.53625	2.941000	0.99782	0.655000	0.94253	.		0.333	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		Intron	10	452	0	0	0	1	0	10	452				
MED12	9968	broad.mit.edu	37	X	70356862	70356862	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70356862A>C	ENST00000374080.3	+	38	5566	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_ENST00000333646.6_Missense_Mutation_p.N1845T|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T			Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5533-5535)aAc>aCc		mediator complex subunit 12							16.0	18.0	18.0					X																	70356862		2003	4154	6157	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70356862A>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5534A>C	X.37:g.70356862A>C	ENSP00000363193:p.Asn1845Thr					MED12_ENST00000374102.1_Missense_Mutation_p.N1845T|MED12_ENST00000374080.3_Missense_Mutation_p.N1845T|MED12_ENST00000478889.1_3'UTR	p.N1845T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			38	5733	+	Renal(35;0.156)		1845			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5534A>C	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.49|16.49	3.138709|3.138709	0.56936|0.56936	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750|ENST00000444034	T;T;T;T;T|.	0.60040|.	0.22;0.24;0.24;0.24;1.2|.	3.78|3.78	3.78|3.78	0.43462|0.43462	Mediator complex, subunit Med12, catenin-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64472|0.64472	0.2601|0.2601	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.62365|.	0.989;0.991;0.989;0.991|.	D;D;D;D|.	0.74023|.	0.969;0.982;0.969;0.982|.	T|T	0.64118|0.64118	-0.6482|-0.6482	10|5	0.46703|.	T|.	0.11|.	-16.0047|-16.0047	12.2263|12.2263	0.54461|0.54461	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1845;1692;1845;1845|.	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074|.	.;.;.;MED12_HUMAN|.	T|P	1845;1845;1845;1845;1813;590|66	ENSP00000333125:N1845T;ENSP00000363215:N1845T;ENSP00000363193:N1845T;ENSP00000414203:N1813T;ENSP00000408388:N590T|.	ENSP00000333125:N1845T|.	N|T	+|+	2|1	0|0	MED12|MED12	70273587|70273587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	6.805000|6.805000	0.75191|0.75191	1.517000|1.517000	0.48917|0.48917	0.390000|0.390000	0.25778|0.25778	AAC|ACC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	48	0	0	0	1	0	7	48				
ABR	29	broad.mit.edu	37	17	994935	994935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:994935C>A	ENST00000302538.5	-	4	647	c.501G>T	c.(499-501)caG>caT	p.Q167H	ABR_ENST00000544583.2_Missense_Mutation_p.Q121H|ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|ABR_ENST00000574437.1_Missense_Mutation_p.Q121H	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	167	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCATGGTGACCTGGCTGTCCC	0.562																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(361-363)caG>caT		active BCR-related							134.0	116.0	122.0					17																	994935		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:994935C>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.501G>T	17.37:g.994935C>A	ENSP00000303909:p.Gln167His					ABR_ENST00000302538.5_Missense_Mutation_p.Q167H|ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|ABR_ENST00000574437.1_Missense_Mutation_p.Q121H	p.Q121H	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	4	962	-			167			DH.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.363G>T	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627495	0.46944	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.63096	-0.02;-0.02;-0.02	6.04	0.793	0.18632	Dbl homology (DH) domain (5);	0.341955	0.34603	N	0.003837	T	0.42404	0.1201	N	0.11313	0.125	0.80722	D	1	P;B;P;B	0.50369	0.934;0.009;0.545;0.003	P;B;B;B	0.47102	0.537;0.021;0.221;0.005	T	0.30880	-0.9963	10	0.51188	T	0.08	.	6.4166	0.21719	0.0:0.5355:0.1223:0.3422	.	121;51;130;167	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	H	167;121;130;51	ENSP00000303909:Q167H;ENSP00000442048:Q121H;ENSP00000291107:Q130H	ENSP00000291107:Q130H	Q	-	3	2	ABR	941685	0.952000	0.32445	1.000000	0.80357	0.984000	0.73092	0.090000	0.15025	0.463000	0.27118	-0.251000	0.11542	CAG		0.562	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			83	405	1	0	3.99893e-49	1	4.94408e-49	83	405				
SSX7	280658	broad.mit.edu	37	X	52681355	52681355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:52681355G>A	ENST00000298181.5	-	4	385	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	76	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GAGGTCTGTGGCCCCTGTATT	0.507																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.(226-228)gCc>gTc		synovial sarcoma, X breakpoint 7							172.0	153.0	159.0					X																	52681355		2203	4300	6503	SO:0001583	missense	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681355G>A	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.227C>T	X.37:g.52681355G>A	ENSP00000298181:p.Ala76Val						p.A76V	NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			4	385	-	Ovarian(276;0.236)		76			KRAB-related.			Missense_Mutation	SNP	ENST00000298181.5	37	c.227C>T	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	4.896	0.166444	0.09339	.	.	ENSG00000187754	ENST00000298181	T	0.10005	2.92	0.725	-0.332	0.12675	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.551260	0.03863	N	0.274301	T	0.10165	0.0249	L	0.41573	1.285	0.09310	N	1	B	0.19331	0.035	B	0.23852	0.049	T	0.36578	-0.9742	9	0.36615	T	0.2	.	.	.	.	.	76	Q7RTT5	SSX7_HUMAN	V	76	ENSP00000298181:A76V	ENSP00000298181:A76V	A	-	2	0	SSX7	52698080	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.207000	0.17395	-0.196000	0.10366	0.409000	0.27619	GCC		0.507	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		155	524	0	0	0	1	0	155	524				
GPRIN2	9721	broad.mit.edu	37	10	46999004	46999004	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999004A>C	ENST00000374317.1	+	3	397	c.124A>C	c.(124-126)Act>Cct	p.T42P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.T42P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	42										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTCCGCAAGACTGCCAGCAG	0.701																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(124-126)Act>Cct		G protein regulated inducer of neurite outgrowth 2							33.0	42.0	39.0					10																	46999004		2201	4299	6500	SO:0001583	missense	9721							g.chr10:46999004A>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.124A>C	10.37:g.46999004A>C	ENSP00000363436:p.Thr42Pro					GPRIN2_ENST00000374317.1_Missense_Mutation_p.T42P	p.T42P			O60269	GRIN2_HUMAN			1	1079	+			42					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.124A>C	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719055	0.48622	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03689	3.84;3.84	5.44	4.31	0.51392	.	0.509005	0.18304	N	0.145333	T	0.02342	0.0072	N	0.14661	0.345	0.21802	N	0.99954	P	0.34977	0.478	B	0.26416	0.069	T	0.45512	-0.9256	10	0.66056	D	0.02	-3.7877	8.1206	0.30969	0.9086:0.0:0.0914:0.0	.	42	O60269	GRIN2_HUMAN	P	42	ENSP00000363436:T42P;ENSP00000363433:T42P	ENSP00000363433:T42P	T	+	1	0	GPRIN2	46419010	1.000000	0.71417	0.885000	0.34714	0.783000	0.44284	6.867000	0.75511	1.026000	0.39733	0.533000	0.62120	ACT		0.701	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		36	463	0	0	0	1	0	36	463				
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	G	A	rs376577933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398176G>A	ENST00000258930.3	-	5	775	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CIB2_ENST00000560618.1_Silent_p.C106C|CIB2_ENST00000557846.1_Silent_p.C100C|CIB2_ENST00000539011.1_Silent_p.C106C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	149	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.C149C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TGACCTTGTCGCACACAAGCA	0.567																																						ENST00000258930.3																			1	Substitution - coding silent(1)	p.C149C(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(445-447)tgC>tgT		calcium and integrin binding family member 2		G		0,4392		0,0,2196	219.0	172.0	188.0		447	-8.9	0.5	15		188	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	CIB2	NM_006383.2		0,1,6488	AA,AG,GG		0.0116,0.0,0.0077		149/188	78398176	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78398176G>A	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.447C>T	15.37:g.78398176G>A						CIB2_ENST00000557846.1_Silent_p.C100C|CIB2_ENST00000539011.1_Silent_p.C106C|CIB2_ENST00000560618.1_Silent_p.C106C	p.C149C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			5	775	-			149			EF-hand 3.		B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.447C>T	CCDS10296.1																																																																																				0.567	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		35	375	0	0	0	1	0	35	375				
TMC3	342125	broad.mit.edu	37	15	81650547	81650547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81650547G>A	ENST00000359440.5	-	7	821	c.686C>T	c.(685-687)gCg>gTg	p.A229V	TMC3_ENST00000558726.1_Missense_Mutation_p.A229V|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	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						TAGGAAATACGCCAAGGGCAG	0.458																																						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.(685-687)gCg>gTg		transmembrane channel-like 3							70.0	74.0	72.0					15																	81650547		1919	4111	6030	SO:0001583	missense	342125					integral to membrane		g.chr15:81650547G>A	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.686C>T	15.37:g.81650547G>A	ENSP00000352413:p.Ala229Val					TMC3_ENST00000359440.5_Missense_Mutation_p.A229V|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	p.A229V			Q7Z5M5	TMC3_HUMAN			7	821	-			229						Missense_Mutation	SNP	ENST00000359440.5	37	c.686C>T	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	35	5.540252	0.96474	.	.	ENSG00000188869	ENST00000359440	D	0.85629	-2.01	5.64	5.64	0.86602	.	0.275034	0.34725	N	0.003737	D	0.93203	0.7835	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	D	0.93632	0.6957	10	0.87932	D	0	-20.1369	19.6883	0.95987	0.0:0.0:1.0:0.0	.	229;229	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	229	ENSP00000352413:A229V	ENSP00000352413:A229V	A	-	2	0	TMC3	79437602	1.000000	0.71417	0.960000	0.40013	0.893000	0.52053	9.005000	0.93587	2.654000	0.90174	0.650000	0.86243	GCG		0.458	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		66	335	0	0	0	1	0	66	335				
TIPARP	25976	broad.mit.edu	37	3	156421357	156421357	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156421357A>G	ENST00000461166.1	+	5	1980	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	TIPARP_ENST00000486483.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q|TIPARP_ENST00000542783.1_Silent_p.Q464Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	464	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTCATCCAAGTCCCTGTTT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1390-1392)caA>caG		TCDD-inducible poly(ADP-ribose) polymerase							98.0	100.0	99.0					3																	156421357		2203	4300	6503	SO:0001819	synonymous_variant	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156421357A>G	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1392A>G	3.37:g.156421357A>G						TIPARP_ENST00000486483.1_Silent_p.Q464Q|TIPARP_ENST00000542783.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q	p.Q464Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		5	1980	+			464			PARP catalytic.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	c.1392A>G	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	A	8.957	0.969552	0.18659	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70601	-0.4827	4	.	.	.	.	14.9953	0.71428	1.0:0.0:0.0:0.0	.	.	.	.	G	167	.	.	S	+	1	0	TIPARP	157904051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.018000	0.59344	0.528000	0.53228	AGT		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		39	397	0	0	0	1	0	39	397				
HEATR5B	54497	broad.mit.edu	37	2	37283632	37283632	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37283632A>C	ENST00000233099.5	-	16	2445	c.2350T>G	c.(2350-2352)Tct>Gct	p.S784A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	784						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGGGCCACAGAAGCATCAATG	0.408																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2350-2352)Tct>Gct		HEAT repeat containing 5B							90.0	96.0	94.0					2																	37283632		2202	4300	6502	SO:0001583	missense	54497						binding	g.chr2:37283632A>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2350T>G	2.37:g.37283632A>C	ENSP00000233099:p.Ser784Ala					HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	p.S784A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			16	2445	-		all_hematologic(82;0.21)	784					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2350T>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	8.025	0.760378	0.15914	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.58652	0.32;0.32	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	N	0.13168	0.305	0.58432	D	0.999998	B	0.09022	0.002	B	0.15052	0.012	T	0.31052	-0.9957	10	0.02654	T	1	-18.8094	15.5924	0.76543	1.0:0.0:0.0:0.0	.	784	Q9P2D3	HTR5B_HUMAN	A	784	ENSP00000233099:S784A;ENSP00000346531:S784A	ENSP00000233099:S784A	S	-	1	0	HEATR5B	37137136	1.000000	0.71417	0.661000	0.29709	0.879000	0.50718	9.287000	0.95975	2.086000	0.62901	0.482000	0.46254	TCT		0.408	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		144	441	0	0	0	1	0	144	441				
JARID2	3720	broad.mit.edu	37	6	15410493	15410493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15410493G>T	ENST00000341776.2	+	3	464	c.220G>T	c.(220-222)Gca>Tca	p.A74S	JARID2_ENST00000541660.1_Missense_Mutation_p.A36S|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	74					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATTAGGACCAGCATCAGAACA	0.463																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(220-222)Gca>Tca		jumonji, AT rich interactive domain 2							214.0	178.0	190.0					6																	15410493		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15410493G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.220G>T	6.37:g.15410493G>T	ENSP00000341280:p.Ala74Ser					JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.A36S	p.A74S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			3	464	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	74					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.220G>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205312	0.58234	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.51574	0.7;1.41	5.48	5.48	0.80851	.	0.272597	0.36482	N	0.002569	T	0.12561	0.0305	N	0.02539	-0.55	0.80722	D	1	P;B	0.35872	0.525;0.001	B;B	0.35182	0.197;0.003	T	0.15780	-1.0425	10	0.15499	T	0.54	-6.656	17.5186	0.87781	0.0:0.0:1.0:0.0	.	36;74	F5H590;Q92833	.;JARD2_HUMAN	S	74;36	ENSP00000341280:A74S;ENSP00000444623:A36S	ENSP00000341280:A74S	A	+	1	0	JARID2	15518472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.670000	0.61583	2.579000	0.87056	0.655000	0.94253	GCA		0.463	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		14	478	1	0	1.5842e-08	1	1.65642e-08	14	478				
FAM92A1	137392	broad.mit.edu	37	8	94713675	94713675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94713675C>T	ENST00000518322.1	+	2	391	c.250C>T	c.(250-252)Cga>Tga	p.R84*	LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	84										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCAGGATTATCGACAAGCAGA	0.443																																						ENST00000518322.1																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(250-252)Cga>Tga		family with sequence similarity 92, member A1							45.0	42.0	43.0					8																	94713675		1941	4149	6090	SO:0001587	stop_gained	137392							g.chr8:94713675C>T		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.250C>T	8.37:g.94713675C>T	ENSP00000429367:p.Arg84*					FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*	p.R84*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		2	391	+	Breast(36;2.4e-06)		84					A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Nonsense_Mutation	SNP	ENST00000518322.1	37	c.250C>T	CCDS47892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.410186|6.410186	0.97546|0.97546	.|.	.|.	ENSG00000188343|ENSG00000188343	ENST00000523475;ENST00000518829;ENST00000518322;ENST00000522324;ENST00000522803;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000540007;ENST00000520955|ENST00000523453	.|.	.|.	.|.	4.38|4.38	3.43|3.43	0.39272|0.39272	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68650	.|0.3024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67948	.|-0.5538	.|4	0.02654|.	T|.	1|.	-15.1932|-15.1932	14.2849|14.2849	0.66240|0.66240	0.1487:0.8513:0.0:0.0|0.1487:0.8513:0.0:0.0	.|.	.|.	.|.	.|.	X|L	14;14;84;84;84;84;84;84;84;14|94	.|.	ENSP00000341363:R84X|.	R|S	+|+	1|2	2|0	FAM92A1|FAM92A1	94782851|94782851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.831000|5.831000	0.69330|0.69330	2.430000|2.430000	0.82344|0.82344	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.443	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269		21	86	0	0	0	1	0	21	86				
SPATA31A3	727830	broad.mit.edu	37	9	40702763	40702763	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:40702763G>A	ENST00000356699.5	+	4	449	c.420G>A	c.(418-420)gaG>gaA	p.E140E	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	140	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCTCATGAGCCTATGGAAG	0.587																																						ENST00000356699.5																			0											c.(418-420)gaG>gaA		SPATA31 subfamily A, member 3							57.0	68.0	64.0					9																	40702763		1906	4083	5989	SO:0001819	synonymous_variant	727830							g.chr9:40702763G>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.420G>A	9.37:g.40702763G>A						SPATA31A3_ENST00000463536.1_3'UTR	p.E140E	NM_001083124.1	NP_001076593.1					4	449	+									Silent	SNP	ENST00000356699.5	37	c.420G>A	CCDS47969.1																																																																																				0.587	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		117	1159	0	0	0	1	0	117	1159				
APOL1	8542	broad.mit.edu	37	22	36661223	36661223	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36661223C>A	ENST00000397278.3	+	6	570	c.341C>A	c.(340-342)gCt>gAt	p.A114D	APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D|APOL1_ENST00000319136.4_Missense_Mutation_p.A130D|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	114					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTCCGTAAAGCTCTGGACAAC	0.458																																						ENST00000319136.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(388-390)gCt>gAt		apolipoprotein L, 1							77.0	72.0	74.0					22																	36661223		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661223C>A	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.341C>A	22.37:g.36661223C>A	ENSP00000380448:p.Ala114Asp					APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|APOL1_ENST00000397278.3_Missense_Mutation_p.A114D|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D	p.A130D	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			7	656	+			114					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.389C>A	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	c	11.47	1.648028	0.29336	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000397279	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	2.52	-4.21	0.03812	.	1.106010	0.06755	N	0.780721	T	0.13628	0.0330	M	0.75615	2.305	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.997	T	0.26467	-1.0102	10	0.54805	T	0.06	.	0.0452	0.00010	0.2944:0.2396:0.1985:0.2676	.	96;114;130	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	114;114;96;130;114;114	ENSP00000380448:A114D;ENSP00000411507:A114D;ENSP00000388477:A96D;ENSP00000317674:A130D;ENSP00000391302:A114D;ENSP00000380449:A114D	ENSP00000317674:A130D	A	+	2	0	APOL1	34991169	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.397000	0.07269	-0.899000	0.03901	0.194000	0.17425	GCT		0.458	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		68	314	1	0	7.33394e-39	1	8.85091e-39	68	314				
PITRM1	10531	broad.mit.edu	37	10	3191914	3191914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3191914C>T	ENST00000224949.4	-	16	1804	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	PITRM1_ENST00000451104.2_Silent_p.Q558Q|PITRM1_ENST00000464395.1_5'Flank|PITRM1_ENST00000380989.2_Silent_p.Q590Q|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Q148Q			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	590					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CATTGGTGGGCTGGGCGCAGT	0.478																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(1768-1770)caG>caA		pitrilysin metallopeptidase 1							115.0	119.0	118.0					10																	3191914		1908	4128	6036	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3191914C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1770G>A	10.37:g.3191914C>T						PITRM1_ENST00000451104.2_Silent_p.Q558Q|PITRM1_ENST00000380994.1_Silent_p.Q148Q|PITRM1_ENST00000224949.4_Silent_p.Q590Q|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	p.Q590Q	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			16	1808	-			558					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.1770G>A	CCDS59208.1																																																																																				0.478	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			116	567	0	0	0	1	0	116	567				
PADI4	23569	broad.mit.edu	37	1	17674450	17674450	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17674450C>T	ENST00000375448.4	+	10	1088	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	354					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAATGGAGATCGGCTACATCC	0.582																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(1060-1062)atC>atT		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						105.0	88.0	94.0					1																	17674450		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17674450C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1062C>T	1.37:g.17674450C>T						PADI4_ENST00000487048.1_3'UTR|AC004824.2_ENST00000602074.1_Intron	p.I354I	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	10	1088	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	354					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.1062C>T	CCDS180.1																																																																																				0.582	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		14	196	0	0	0	1	0	14	196				
NACA	4666	broad.mit.edu	37	12	57109918	57109918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57109918G>T	ENST00000454682.1	-	3	5677	c.5396C>A	c.(5395-5397)tCt>tAt	p.S1799Y	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1799	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAGAGGCAGAGAGACTGGTGG	0.557			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5395-5397)tCt>tAt		nascent polypeptide-associated complex alpha subunit							43.0	41.0	42.0					12																	57109918		1568	3581	5149	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57109918G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5396C>A	12.37:g.57109918G>T	ENSP00000403817:p.Ser1799Tyr					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y	p.S1799Y	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	5677	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.5396C>A		.	.	.	.	.	.	.	.	.	.	G	11.24	1.580373	0.28180	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.59906	0.23;0.68	3.77	3.77	0.43336	.	.	.	.	.	T	0.54447	0.1859	N	0.08118	0	0.18873	N	0.999983	D;D	0.65815	0.995;0.994	P;P	0.62184	0.887;0.899	T	0.51764	-0.8664	9	0.87932	D	0	.	12.5832	0.56401	0.0:0.0:1.0:0.0	.	1799;646	E9PAV3;F8VU71	.;.	Y	1799;646	ENSP00000403817:S1799Y;ENSP00000448035:S646Y	ENSP00000403817:S1799Y	S	-	2	0	NACA	55396185	0.709000	0.27886	0.918000	0.36340	0.646000	0.38490	1.484000	0.35508	1.928000	0.55862	0.484000	0.47621	TCT		0.557	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		13	137	1	0	1.5842e-08	1	1.65642e-08	13	137				
MST1R	4486	broad.mit.edu	37	3	49940700	49940700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940700G>A	ENST00000296474.3	-	1	370	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	MST1R_ENST00000344206.4_Missense_Mutation_p.P115S|CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	115	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGTCACCGGGAGGGCCGTGG	0.677																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(343-345)Ccc>Tcc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							55.0	61.0	59.0					3																	49940700		2203	4299	6502	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940700G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.343C>T	3.37:g.49940700G>A	ENSP00000296474:p.Pro115Ser					CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.P115S	p.P115S	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	370	-			115			Sema.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.343C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278775	0.05679	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10573	2.86;2.86	4.96	-0.793	0.10922	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.970223	0.08471	N	0.940952	T	0.09024	0.0223	L	0.31578	0.945	0.09310	N	1	B;B;B;B;B	0.31910	0.199;0.008;0.346;0.02;0.001	B;B;B;B;B	0.36244	0.098;0.011;0.22;0.045;0.011	T	0.44982	-0.9292	10	0.23891	T	0.37	-7.214	9.4743	0.38862	0.1899:0.3107:0.4994:0.0	.	115;115;115;115;115	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	S	115	ENSP00000296474:P115S;ENSP00000341325:P115S	ENSP00000296474:P115S	P	-	1	0	MST1R	49915704	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.556000	0.23438	-0.120000	0.11809	-1.598000	0.00824	CCC		0.677	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			30	552	0	0	0	1	0	30	552				
ZNF708	7562	broad.mit.edu	37	19	21476283	21476283	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476283C>T	ENST00000356929.3	-	4	1682	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TATGAATTATCTTATGTGTAG	0.333																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1483-1485)aaG>aaA		zinc finger protein 708							42.0	47.0	45.0					19																	21476283		2196	4295	6491	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476283C>T	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1485G>A	19.37:g.21476283C>T							p.K495K	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1682	-			495					Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.1485G>A	CCDS32980.1																																																																																				0.333	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		74	247	0	0	0	1	0	74	247				
SLC34A2	10568	broad.mit.edu	37	4	25677760	25677760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25677760G>A	ENST00000382051.3	+	13	1512	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	488					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.A488S(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTTGCAGATCGCCCTGTGCCA	0.602			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - Missense(1)	p.A488S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1462-1464)Gcc>Acc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							86.0	69.0	75.0					4																	25677760		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677760G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1462G>A	4.37:g.25677760G>A	ENSP00000371483:p.Ala488Thr					SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T	p.A488T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1512	+		Breast(46;0.0503)	488					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1462G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389047	0.82902	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.87179	-2.22;-2.22;-2.22	5.04	4.13	0.48395	.	0.106321	0.64402	D	0.000005	D	0.89396	0.6703	M	0.83483	2.645	0.80722	D	1	P;P	0.49447	0.924;0.869	B;P	0.46208	0.311;0.507	D	0.91155	0.4956	10	0.62326	D	0.03	-35.5842	14.5209	0.67849	0.0:0.0:0.8528:0.1472	.	487;488	O95436-2;O95436	.;NPT2B_HUMAN	T	487;488;487	ENSP00000425501:A487T;ENSP00000371483:A488T;ENSP00000423021:A487T	ENSP00000371483:A488T	A	+	1	0	SLC34A2	25286858	1.000000	0.71417	0.996000	0.52242	0.811000	0.45836	6.559000	0.73946	2.504000	0.84457	0.561000	0.74099	GCC		0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		35	196	0	0	0	1	0	35	196				
SACS	26278	broad.mit.edu	37	13	23910147	23910147	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910147C>A	ENST00000382292.3	-	9	8141	c.7868G>T	c.(7867-7869)gGa>gTa	p.G2623V	SACS_ENST00000382298.3_Missense_Mutation_p.G2623V|SACS_ENST00000402364.1_Missense_Mutation_p.G1873V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2623					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATCCTATTCCATACTGTCC	0.388																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(7867-7869)gGa>gTa		spastic ataxia of Charlevoix-Saguenay (sacsin)							106.0	110.0	109.0					13																	23910147		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910147C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7868G>T	13.37:g.23910147C>A	ENSP00000371729:p.Gly2623Val					SACS_ENST00000382292.3_Missense_Mutation_p.G2623V|SACS_ENST00000402364.1_Missense_Mutation_p.G1873V	p.G2623V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8456	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2623					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.7868G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943189	0.73672	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.99818	-6.92;-6.92;-6.92	5.5	5.5	0.81552	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96931	0.9681	10	0.87932	D	0	.	19.3858	0.94555	0.0:1.0:0.0:0.0	.	2623	Q9NZJ4	SACS_HUMAN	V	2623;1873;2623	ENSP00000371729:G2623V;ENSP00000385844:G1873V;ENSP00000371735:G2623V	ENSP00000371729:G2623V	G	-	2	0	SACS	22808147	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.487000	0.81328	2.590000	0.87494	0.462000	0.41574	GGA		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		79	376	1	0	4.9621e-21	1	5.57887e-21	79	376				
KRT16P6	353194	broad.mit.edu	37	17	16723972	16723972	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16723972C>T	ENST00000417510.1	-	0	694																											ACTGCAAACTCGCTTGGTGCG	0.527																																						ENST00000417510.1																			0																																																			0							g.chr17:16723972C>T																													17.37:g.16723972C>T														0	694	-									RNA	SNP	ENST00000417510.1	37																																																																																						0.527	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			28	178	0	0	0	1	0	28	178				
ACVR2B	93	broad.mit.edu	37	3	38524754	38524754	+	Silent	SNP	G	G	A	rs41285127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38524754G>A	ENST00000352511.4	+	11	1942	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	490					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCACTACCTCGGACTGTCTCG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		12203	0.0		0.001	False		,,,				2504	0.0					ENST00000352511.3																			0				lung(1)	1						c.(1468-1470)tcG>tcA		activin A receptor, type IIB		G		1,4405	2.1+/-5.4	0,1,2202	181.0	151.0	161.0		1470	4.2	1.0	3	dbSNP_127	161	0,8600		0,0,4300	no	coding-synonymous	ACVR2B	NM_001106.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		490/513	38524754	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38524754G>A	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1470G>A	3.37:g.38524754G>A							p.S490S	NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	11	1942	+	Medulloblastoma(35;0.163)		490					Q4VAV0	Silent	SNP	ENST00000352511.4	37	c.1470G>A	CCDS2679.1																																																																																				0.592	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		111	434	0	0	0	1	0	111	434				
OR2AE1	81392	broad.mit.edu	37	7	99474422	99474422	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99474422G>T	ENST00000316368.2	-	1	258	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCATCTTCAGGATGATTGTG	0.478																																						ENST00000316368.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(235-237)Ctg>Atg		olfactory receptor, family 2, subfamily AE, member 1							114.0	97.0	103.0					7																	99474422		2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474422G>T	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.235C>A	7.37:g.99474422G>T	ENSP00000313936:p.Leu79Met						p.L79M	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	258	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		79					B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.235C>A	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473671	0.26423	.	.	ENSG00000244623	ENST00000316368	T	0.00397	7.57	3.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.189811	0.26082	N	0.026448	T	0.00241	0.0007	N	0.24115	0.695	0.30255	N	0.793721	B	0.22080	0.064	B	0.09377	0.004	T	0.42378	-0.9455	10	0.87932	D	0	.	13.5959	0.61988	0.0:0.0:1.0:0.0	.	79	Q8NHA4	O2AE1_HUMAN	M	79	ENSP00000313936:L79M	ENSP00000313936:L79M	L	-	1	2	OR2AE1	99312358	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	5.722000	0.68485	2.321000	0.78463	0.501000	0.49751	CTG		0.478	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			71	295	1	0	9.98788e-38	1	1.20066e-37	71	295				
CMYA5	202333	broad.mit.edu	37	5	79030920	79030920	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79030920A>C	ENST00000446378.2	+	2	6363	c.6332A>C	c.(6331-6333)aAg>aCg	p.K2111T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2111					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTTCAGTCAAAGGTTATTGAT	0.433																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6331-6333)aAg>aCg		cardiomyopathy associated 5							58.0	56.0	57.0					5																	79030920		1895	4120	6015	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030920A>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6332A>C	5.37:g.79030920A>C	ENSP00000394770:p.Lys2111Thr						p.K2111T	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6363	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2111					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6332A>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	8.762	0.923752	0.18056	.	.	ENSG00000164309	ENST00000446378	T	0.06849	3.25	5.94	4.78	0.61160	.	0.119868	0.37761	N	0.001947	T	0.12220	0.0297	L	0.49126	1.545	0.09310	N	1	D	0.55605	0.972	P	0.48304	0.573	T	0.10382	-1.0632	10	0.72032	D	0.01	.	8.7785	0.34776	0.9151:0.0:0.0849:0.0	.	2111	Q8N3K9	CMYA5_HUMAN	T	2111	ENSP00000394770:K2111T	ENSP00000394770:K2111T	K	+	2	0	CMYA5	79066676	0.242000	0.23868	0.023000	0.16930	0.061000	0.15899	3.126000	0.50477	1.069000	0.40788	0.528000	0.53228	AAG		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		67	237	0	0	0	1	0	67	237				
SETD4	54093	broad.mit.edu	37	21	37410520	37410520	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37410520C>T	ENST00000399215.1	-	9	2488	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Silent_p.E348E|SETD4_ENST00000332131.4_Silent_p.E372E			Q9NVD3	SETD4_HUMAN	SET domain containing 4	372				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AACTTGTCTTCTCATTCGTAT	0.353																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(1114-1116)gaG>gaA		SET domain containing 4							178.0	173.0	175.0					21																	37410520		2202	4300	6502	SO:0001819	synonymous_variant	54093							g.chr21:37410520C>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1116G>A	21.37:g.37410520C>T						SETD4_ENST00000332131.4_Silent_p.E372E|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Silent_p.E348E	p.E372E			Q9NVD3	SETD4_HUMAN			9	2488	-			372	EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).				B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	37	c.1116G>A	CCDS13640.1																																																																																				0.353	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		58	510	0	0	0	1	0	58	510				
ABAT	18	broad.mit.edu	37	16	8844347	8844347	+	Silent	SNP	C	C	T	rs199666932	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8844347C>T	ENST00000396600.2	+	5	1205	c.267C>T	c.(265-267)gaC>gaT	p.D89D	ABAT_ENST00000425191.2_Silent_p.D89D|ABAT_ENST00000569156.1_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000268251.8_Silent_p.D89D	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	89					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTGATGTGGACGGCAACCGAA	0.468													C|||	9	0.00179712	0.0	0.0	5008	,	,		20866	0.0079		0.001	False		,,,				2504	0.0					ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(265-267)gaC>gaT		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	C	,,	0,4394		0,0,2197	203.0	182.0	189.0		267,267,267	-5.4	0.9	16		189	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	ABAT	NM_000663.4,NM_001127448.1,NM_020686.5	,,	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	,,	89/501,89/501,89/501	8844347	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8844347C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.267C>T	16.37:g.8844347C>T						ABAT_ENST00000569156.1_Silent_p.D89D|ABAT_ENST00000268251.8_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000425191.2_Silent_p.D89D	p.D89D	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			5	1205	+			89					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	ENST00000396600.2	37	c.267C>T	CCDS10534.1																																																																																				0.468	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		12	666	0	0	0	1	0	12	666				
SPON2	10417	broad.mit.edu	37	4	1165096	1165096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1165096G>A	ENST00000290902.5	-	3	731	c.399C>T	c.(397-399)acC>acT	p.T133T	SPON2_ENST00000431380.1_Silent_p.T133T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	133	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		ACGTCTGCCCGGTGCCGCTGG	0.791																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(397-399)acC>acT		spondin 2, extracellular matrix protein							5.0	6.0	6.0					4																	1165096		1766	3620	5386	SO:0001819	synonymous_variant	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165096G>A	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.399C>T	4.37:g.1165096G>A						SPON2_ENST00000431380.1_Silent_p.T133T	p.T133T	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	3	731	-			133			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	c.399C>T	CCDS3347.1																																																																																				0.791	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			20	65	0	0	0	1	0	20	65				
DIRAS1	148252	broad.mit.edu	37	19	2717474	2717474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717474C>T	ENST00000323469.4	-	2	514	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	111					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCCTCCACGCTGCCCTTG	0.642																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(331-333)Gtg>Atg		DIRAS family, GTP-binding RAS-like 1							59.0	49.0	53.0					19																	2717474		2202	4300	6502	SO:0001583	missense	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717474C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.331G>A	19.37:g.2717474C>T	ENSP00000325836:p.Val111Met					DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	p.V111M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	514	-			111						Missense_Mutation	SNP	ENST00000323469.4	37	c.331G>A	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212378	0.39102	.	.	ENSG00000176490	ENST00000323469	T	0.70164	-0.46	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.064498	0.64402	D	0.000009	T	0.56337	0.1978	L	0.53671	1.685	0.58432	D	0.99999	B	0.28208	0.203	B	0.24541	0.054	T	0.54774	-0.8243	10	0.31617	T	0.26	.	8.0326	0.30474	0.0:0.8865:0.0:0.1135	.	111	O95057	DIRA1_HUMAN	M	111	ENSP00000325836:V111M	ENSP00000325836:V111M	V	-	1	0	DIRAS1	2668474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.573000	0.46007	1.898000	0.54952	0.549000	0.68633	GTG		0.642	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			35	223	0	0	0	1	0	35	223				
PAPPA	5069	broad.mit.edu	37	9	119093522	119093522	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119093522G>A	ENST00000328252.3	+	11	3516		c.e11-1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TATTTTTCCAGGTGTGTCGAA	0.403																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.e11-1		pregnancy-associated plasma protein A, pappalysin 1							72.0	70.0	71.0					9																	119093522		2203	4300	6503	SO:0001630	splice_region_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119093522G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3148-1G>A	9.37:g.119093522G>A						PAPPA_ENST00000534838.1_Splice_Site		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			11	3516	+								B1AMF9|Q08371|Q68G52|Q9UDK7	Splice_Site	SNP	ENST00000328252.3	37		CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644489	0.87859	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA	118133343	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.079000	0.89508	2.882000	0.98803	0.655000	0.94253	.		0.403	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	Intron	51	179	0	0	0	1	0	51	179				
SYNE1	23345	broad.mit.edu	37	6	152497616	152497616	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152497616C>A	ENST00000367255.5	-	130	24141	c.23540G>T	c.(23539-23541)aGc>aTc	p.S7847I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7847					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTTCATGGCTGGCTTTAGC	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23539-23541)aGc>aTc		spectrin repeat containing, nuclear envelope 1							298.0	281.0	287.0					6																	152497616		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152497616C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23540G>T	6.37:g.152497616C>A	ENSP00000356224:p.Ser7847Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I	p.S7847I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	130	24141	-		Ovarian(120;0.0955)	7847					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23540G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906876	0.92107	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367251	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	M	0.69823	2.125	0.80722	D	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;0.999;1.0;1.0	T	0.67094	-0.5757	10	0.72032	D	0.01	.	19.9341	0.97130	0.0:1.0:0.0:0.0	.	7847;7847;7776;7776;49	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7847;493;7776;7847;7776;7459;2371;9;769	ENSP00000356224:S7847I;ENSP00000356226:S493I;ENSP00000396024:S7776I;ENSP00000265368:S7847I;ENSP00000390975:S7776I;ENSP00000341887:S7459I;ENSP00000349276:S2371I;ENSP00000356220:S769I	ENSP00000265368:S7847I	S	-	2	0	SYNE1	152539309	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.681000	0.84073	2.711000	0.92665	0.563000	0.77884	AGC		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		166	893	1	0	2.36154e-73	1	3.00618e-73	166	893				
COL5A1	1289	broad.mit.edu	37	9	137671958	137671958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137671958G>A	ENST00000371817.3	+	28	2810	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	799	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGGCCGATGGCATCCGTGGT	0.597																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2395-2397)gGc>gAc		collagen, type V, alpha 1							94.0	99.0	97.0					9																	137671958		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137671958G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2396G>A	9.37:g.137671958G>A	ENSP00000360882:p.Gly799Asp						p.G799D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	28	2810	+		Myeloproliferative disorder(178;0.0341)	799			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2396G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452148	0.63290	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	3.99	3.99	0.46301	.	.	.	.	.	D	0.99809	0.9917	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96523	0.9387	9	0.87932	D	0	.	15.2143	0.73250	0.0:0.0:1.0:0.0	.	799	P20908	CO5A1_HUMAN	D	799	ENSP00000360882:G799D	ENSP00000360882:G799D	G	+	2	0	COL5A1	136811779	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	8.204000	0.89741	1.933000	0.56026	0.655000	0.94253	GGC		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		121	549	0	0	0	1	0	121	549				
CYLC1	1538	broad.mit.edu	37	X	83128385	83128385	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128385T>G	ENST00000329312.4	+	4	706	c.669T>G	c.(667-669)gaT>gaG	p.D223E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	223					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAAGAAAGATTTGAAGAGGT	0.328																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(667-669)gaT>gaG		cylicin, basic protein of sperm head cytoskeleton 1							28.0	26.0	27.0					X																	83128385		2195	4284	6479	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128385T>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.669T>G	X.37:g.83128385T>G	ENSP00000331556:p.Asp223Glu						p.D223E	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	706	+			223					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.669T>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	9.934	1.215624	0.22373	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.52754	0.65	3.21	-0.44	0.12261	.	.	.	.	.	T	0.47746	0.1462	L	0.43152	1.355	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.42413	-0.9453	9	0.06891	T	0.86	-0.0289	5.5428	0.17047	0.0:0.4965:0.0:0.5035	.	223;223	P35663;F5H4V5	CYLC1_HUMAN;.	E	223	ENSP00000331556:D223E	ENSP00000331556:D223E	D	+	3	2	CYLC1	83015041	0.067000	0.21026	0.003000	0.11579	0.010000	0.07245	-0.100000	0.10990	-0.034000	0.13713	0.417000	0.27973	GAT		0.328	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		33	109	0	0	0	1	0	33	109				
PLCH1	23007	broad.mit.edu	37	3	155222376	155222376	+	Nonsense_Mutation	SNP	G	G	A	rs142222970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155222376G>A	ENST00000340059.7	-	12	1635	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	546					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGAGGGATCGTCCATGTGAT	0.313																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1582-1584)Cga>Tga		phospholipase C, eta 1		G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	145.0	133.0	137.0		1636,1636,1582	5.2	1.0	3	dbSNP_134	137	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	546/1694,546/1003,528/1656	155222376	1,13005	2203	4300	6503	SO:0001587	stop_gained	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155222376G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1636C>T	3.37:g.155222376G>A	ENSP00000345988:p.Arg546*					PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.R546*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*	p.R528*			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		13	1939	-			546					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	37	c.1582C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	40	8.501984	0.98838	2.27E-4	0.0	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.19	5.19	0.71726	.	1.248860	0.05659	N	0.586524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8058	0.57612	0.0:0.0:0.8367:0.1633	.	.	.	.	X	546;528;546;546;528;528	.	ENSP00000335469:R528X	R	-	1	2	PLCH1	156705070	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.425000	0.52771	2.571000	0.86741	0.655000	0.94253	CGA		0.313	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		27	144	0	0	0	1	0	27	144				
TJP2	9414	broad.mit.edu	37	9	71869243	71869243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71869243C>T	ENST00000377245.4	+	23	3734	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACACTCCAAGCGCGGTTACTA	0.552																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(3526-3528)Cgc>Tgc		tight junction protein 2							92.0	88.0	89.0					9																	71869243		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71869243C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3526C>T	9.37:g.71869243C>T	ENSP00000366453:p.Arg1176Cys					TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C	p.R1176C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			23	3734	+			1176					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.3526C>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548194	0.45383	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.18810	2.58;2.43;2.57;2.19;2.46	5.56	5.56	0.83823	.	0.280739	0.31134	N	0.008197	T	0.43211	0.1237	L	0.57536	1.79	0.31688	N	0.642221	D;D;D;D	0.89917	0.999;0.995;1.0;0.999	P;P;D;P	0.77004	0.832;0.707;0.989;0.708	T	0.49331	-0.8951	10	0.66056	D	0.02	.	15.2602	0.73615	0.1488:0.8512:0.0:0.0	.	1207;1143;1029;1176	F5H301;F5H886;Q9UDY2-2;Q9UDY2	.;.;.;ZO2_HUMAN	C	1006;1176;1029;1143;1207	ENSP00000392178:R1006C;ENSP00000366453:R1176C;ENSP00000345893:R1029C;ENSP00000442090:R1143C;ENSP00000438262:R1207C	ENSP00000345893:R1029C	R	+	1	0	TJP2	71059063	1.000000	0.71417	0.070000	0.20053	0.025000	0.11179	3.244000	0.51399	2.620000	0.88729	0.655000	0.94253	CGC		0.552	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		92	319	0	0	0	1	0	92	319				
STAB1	23166	broad.mit.edu	37	3	52543325	52543325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52543325C>T	ENST00000321725.6	+	22	2411	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	779					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCATGGAGAGCAATGCCAGGA	0.577																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2335-2337)Caa>Taa		stabilin 1							84.0	69.0	74.0					3																	52543325		2202	4300	6502	SO:0001587	stop_gained	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52543325C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2335C>T	3.37:g.52543325C>T	ENSP00000312946:p.Gln779*						p.Q779*	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	22	2411	+			779					A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	ENST00000321725.6	37	c.2335C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	36	5.697297	0.96802	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.57	4.68	0.58851	.	0.551778	0.18049	N	0.153326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.8752	0.35340	0.2981:0.5574:0.1445:0.0	.	.	.	.	X	779	.	ENSP00000312946:Q779X	Q	+	1	0	STAB1	52518365	0.995000	0.38212	0.954000	0.39281	0.441000	0.31987	4.142000	0.58044	1.316000	0.45131	0.561000	0.74099	CAA		0.577	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		31	148	0	0	0	1	0	31	148				
MED23	9439	broad.mit.edu	37	6	131919805	131919805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131919805C>T	ENST00000368068.3	-	19	2496	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000368060.3_Missense_Mutation_p.E773K|MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000403834.3_Missense_Mutation_p.E779K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	773					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATGTCGTTTTCGTTGCTCATT	0.393																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2335-2337)Gaa>Aaa		mediator complex subunit 23							193.0	182.0	186.0					6																	131919805		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919805C>T	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2317G>A	6.37:g.131919805C>T	ENSP00000357047:p.Glu773Lys					MED23_ENST00000368060.3_Missense_Mutation_p.E773K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K|MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000368068.3_Missense_Mutation_p.E773K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K	p.E779K			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2508	-	Breast(56;0.0753)		773					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2335G>A	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590256	0.96590	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.80764	0.993;0.956;0.994;0.99	D	0.84986	0.0891	10	0.49607	T	0.09	-0.1527	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;779;773;779	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	K	779;773;779;773;779;414;779;779	ENSP00000346588:E779K;ENSP00000357047:E773K;ENSP00000384536:E779K;ENSP00000357039:E773K;ENSP00000357037:E779K;ENSP00000439977:E414K;ENSP00000357032:E779K;ENSP00000437818:E779K	ENSP00000346588:E779K	E	-	1	0	MED23	131961498	1.000000	0.71417	0.991000	0.47740	0.900000	0.52787	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			69	322	0	0	0	1	0	69	322				
FAM166A	401565	broad.mit.edu	37	9	140139905	140139905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140139905G>T	ENST00000344774.4	-	3	430	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	126						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCTGCAGGCAGCAGAATCTGT	0.622																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(376-378)Ctg>Atg		family with sequence similarity 166, member A							84.0	99.0	94.0					9																	140139905		2203	4300	6503	SO:0001583	missense	401565							g.chr9:140139905G>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.376C>A	9.37:g.140139905G>T	ENSP00000344729:p.Leu126Met					FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	p.L126M	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			3	430	-			126					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.376C>A	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	3.635	-0.074671	0.07184	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	3.29	0.37713	.	0.996122	0.08132	N	0.993040	T	0.42810	0.1219	M	0.67953	2.075	0.09310	N	1	P	0.48911	0.917	B	0.41988	0.372	T	0.23190	-1.0195	9	0.38643	T	0.18	-2.6202	8.3479	0.32284	0.0:0.1705:0.6527:0.1767	.	126	Q6J272	F166A_HUMAN	M	126;126;153	.	ENSP00000344729:L126M	L	-	1	2	FAM166A	139259726	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.677000	0.25262	0.520000	0.28426	0.561000	0.74099	CTG		0.622	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		30	643	1	0	1.30897e-18	1	1.45408e-18	30	643				
SMG6	23293	broad.mit.edu	37	17	1968799	1968799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1968799G>A	ENST00000263073.6	-	17	4060	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	SMG6_ENST00000354901.4_Missense_Mutation_p.S429F|SMG6_ENST00000544865.1_Missense_Mutation_p.S1306F|SMG6_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1337	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGGCGATGGATTCGAGTTC	0.597																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3916-3918)tCc>tTc		SMG6 nonsense mediated mRNA decay factor							54.0	50.0	51.0					17																	1968799		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:1968799G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4010C>T	17.37:g.1968799G>A	ENSP00000263073:p.Ser1337Phe					SMG6_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000263073.5_Missense_Mutation_p.S1337F|SMG6_ENST00000354901.4_Missense_Mutation_p.S429F|SMG6_ENST00000573166.1_5'UTR	p.S1306F			Q86US8	EST1A_HUMAN			17	4427	-			1337			PINc.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.3917C>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093095	0.94149	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.21734	2.8;2.8;1.99	5.56	5.56	0.83823	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55774	-0.8088	10	0.87932	D	0	-5.4885	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1337	Q86US8	EST1A_HUMAN	F	1337;1306;248;429	ENSP00000263073:S1337F;ENSP00000443920:S1306F;ENSP00000440283:S429F	ENSP00000263073:S1337F	S	-	2	0	SMG6	1915549	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.430000	0.97488	2.640000	0.89533	0.655000	0.94253	TCC		0.597	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			32	134	0	0	0	1	0	32	134				
TGM5	9333	broad.mit.edu	37	15	43527084	43527084	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43527084C>T	ENST00000220420.5	-	11	1765	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	TGM5_ENST00000349114.4_Silent_p.Q504Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	586					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTGACAGGTACTGGCTGTACT	0.473																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1756-1758)caG>caA		transglutaminase 5	L-Glutamine(DB00130)						132.0	122.0	125.0					15																	43527084		2203	4299	6502	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527084C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1758G>A	15.37:g.43527084C>T						TGM5_ENST00000349114.4_Silent_p.Q504Q	p.Q586Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	11	1765	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	586					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.1758G>A	CCDS32212.1																																																																																				0.473	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		56	301	0	0	0	1	0	56	301				
UPK1A	11045	broad.mit.edu	37	19	36168745	36168745	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36168745A>G	ENST00000222275.2	+	6	680	c.680A>G	c.(679-681)gAc>gGc	p.D227G	UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	227					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACGCCATCGACAGCTACACG	0.642																																						ENST00000222275.2																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(679-681)gAc>gGc		uroplakin 1A							76.0	65.0	68.0					19																	36168745		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36168745A>G	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.680A>G	19.37:g.36168745A>G	ENSP00000222275:p.Asp227Gly					UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	p.D227G	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	680	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		227					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.680A>G	CCDS12470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.140171|3.140171	0.56936|0.56936	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.79247|0.06768	-1.25|3.26	5.43|5.43	5.43|5.43	0.79202|0.79202	Tetraspanin, EC2 domain (1);|.	.|0.948870	.|0.08490	.|U	.|0.938098	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.22421|0.22421	0.69|0.69	0.34787|0.34787	D|D	0.735353|0.735353	B|B	0.22851|0.31817	0.076|0.341	B|B	0.28011|0.30782	0.085|0.12	T|T	0.21008|0.21008	-1.0258|-1.0258	9|10	0.42905|0.87932	T|D	0.14|0	-6.5984|-6.5984	11.853|11.853	0.52422|0.52422	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227|260	O00322|O00322-2	UPK1A_HUMAN|.	G|A	227|260	ENSP00000222275:D227G|ENSP00000368298:T260A	ENSP00000222275:D227G|ENSP00000368298:T260A	D|T	+|+	2|1	0|0	UPK1A|UPK1A	40860585|40860585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.958000|5.958000	0.70330|0.70330	2.054000|2.054000	0.61138|0.61138	0.379000|0.379000	0.24179|0.24179	GAC|ACA		0.642	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			14	159	0	0	0	1	0	14	159				
MED25	81857	broad.mit.edu	37	19	50321657	50321657	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50321657T>A	ENST00000312865.6	+	1	112	c.59T>A	c.(58-60)tTt>tAt	p.F20Y	MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	20	Interaction with the Mediator complex.			F -> S (in Ref. 1; AAM20739). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GACGTGGTGTTTGTGATTGAG	0.682																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(58-60)tTt>tAt		mediator complex subunit 25							47.0	44.0	45.0					19																	50321657		2203	4300	6503	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50321657T>A	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.59T>A	19.37:g.50321657T>A	ENSP00000326767:p.Phe20Tyr					MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	p.F20Y	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	1	112	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	20	F -> S (in Ref. 1; AAM20739).		Interaction with the Mediator complex.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.59T>A	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	T	31	5.063493	0.93898	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000542221;ENST00000544580	T;T	0.81163	1.83;-1.46	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	M	0.67397	2.05	0.23813	N	0.996771	D;D	0.58268	0.982;0.982	P;P	0.57846	0.828;0.828	T	0.78861	-0.2037	10	0.72032	D	0.01	.	12.039	0.53442	0.0:0.0:0.0:1.0	.	20;20	B9TX30;Q71SY5	.;MED25_HUMAN	Y	20	ENSP00000326767:F20Y;ENSP00000437496:F20Y	ENSP00000326767:F20Y	F	+	2	0	MED25	55013469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.474000	0.60203	2.091000	0.63221	0.533000	0.62120	TTT		0.682	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		34	179	0	0	0	1	0	34	179				
OR1L4	254973	broad.mit.edu	37	9	125486692	125486692	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486692T>C	ENST00000259466.1	+	1	424	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACCATGGCATTGCCTACTCAT	0.517																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(424-426)Tgc>Cgc		olfactory receptor, family 1, subfamily L, member 4							247.0	195.0	213.0					9																	125486692		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486692T>C		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.424T>C	9.37:g.125486692T>C	ENSP00000259466:p.Cys142Arg						p.C142R	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	424	+			142					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.424T>C	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	1.757	-0.487723	0.04352	.	.	ENSG00000136939	ENST00000259466	T	0.00241	8.46	4.01	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.201999	0.35495	N	0.003172	T	0.00271	0.0008	M	0.84683	2.71	0.22620	N	0.998922	B	0.06786	0.001	B	0.11329	0.006	T	0.40496	-0.9560	10	0.87932	D	0	-15.3252	8.6337	0.33935	0.0:0.0963:0.0:0.9037	.	142	Q8NGR5	OR1L4_HUMAN	R	142	ENSP00000259466:C142R	ENSP00000259466:C142R	C	+	1	0	OR1L4	124526513	0.993000	0.37304	0.595000	0.28798	0.057000	0.15508	2.350000	0.44063	0.572000	0.29383	0.248000	0.18094	TGC		0.517	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			176	804	0	0	0	1	0	176	804				
LHCGR	3973	broad.mit.edu	37	2	48921388	48921388	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48921388C>A	ENST00000294954.7	-	10	943	c.922G>T	c.(922-924)Gta>Tta	p.V308L	LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L|LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	308					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTTCCTTACTGTGCTTTCA	0.338																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(922-924)Gta>Tta		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						127.0	97.0	107.0					2																	48921388		2202	4295	6497	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48921388C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.922G>T	2.37:g.48921388C>A	ENSP00000294954:p.Val308Leu					LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L|LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L|LHCGR_ENST00000405626.1_Intron	p.V308L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	943	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	308					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.922G>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588934	0.28357	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000403273;ENST00000401907	T;T;T;T	0.79247	-0.87;-0.79;-1.25;-1.0	5.39	5.39	0.77823	.	0.699661	0.15057	N	0.282989	T	0.60117	0.2244	N	0.13235	0.315	0.27726	N	0.944958	B	0.06786	0.001	B	0.04013	0.001	T	0.46992	-0.9151	9	.	.	.	.	9.5701	0.39422	0.0:0.9001:0.0:0.0999	.	308	P22888	LSHR_HUMAN	L	246;308;308;308	ENSP00000344301:V246L;ENSP00000294954:V308L;ENSP00000385847:V308L;ENSP00000385406:V308L	.	V	-	1	0	LHCGR	48774892	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.451000	0.35145	2.521000	0.84997	0.563000	0.77884	GTA		0.338	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		7	69	1	0	0.0477658	1	0.0478703	7	69				
SPIN3	169981	broad.mit.edu	37	X	57021054	57021054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57021054G>A	ENST00000374919.3	-	2	649	c.327C>T	c.(325-327)gtC>gtT	p.V109V		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	109					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATTAGGAAGGACTTCAAGTG	0.378																																						ENST00000374919.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(325-327)gtC>gtT		spindlin family, member 3							132.0	132.0	132.0					X																	57021054		2136	4253	6389	SO:0001819	synonymous_variant	169981				gamete generation			g.chrX:57021054G>A	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.327C>T	X.37:g.57021054G>A							p.V109V	NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN			2	649	-			109					B2RUW3|B7Z8W2|Q8N5D9	Silent	SNP	ENST00000374919.3	37	c.327C>T	CCDS43963.1																																																																																				0.378	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		171	655	0	0	0	1	0	171	655				
MAB21L1	4081	broad.mit.edu	37	13	36050193	36050193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050193G>A	ENST00000379919.4	-	1	639	c.83C>T	c.(82-84)gCc>gTc	p.A28V	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	28					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GATAGTTTTGGCAATGGCAGC	0.507																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(82-84)gCc>gTc		mab-21-like 1 (C. elegans)							101.0	104.0	103.0					13																	36050193		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050193G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.83C>T	13.37:g.36050193G>A	ENSP00000369251:p.Ala28Val					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.A28V	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	639	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	28					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.83C>T	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825485	0.50739	.	.	ENSG00000180660	ENST00000379919	T	0.18810	2.19	5.76	5.76	0.90799	.	0.155272	0.64402	D	0.000020	T	0.25044	0.0608	M	0.61703	1.905	0.48632	D	0.999686	B	0.06786	0.001	B	0.09377	0.004	T	0.01570	-1.1322	10	0.36615	T	0.2	-3.2857	15.1394	0.72599	0.0695:0.0:0.9305:0.0	.	28	Q13394	MB211_HUMAN	V	28	ENSP00000369251:A28V	ENSP00000369251:A28V	A	-	2	0	MAB21L1	34948193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCC		0.507	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		153	579	0	0	0	1	0	153	579				
EFEMP2	30008	broad.mit.edu	37	11	65637409	65637409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65637409G>A	ENST00000307998.6	-	7	876	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R216C|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	216	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGAAGCAGCGCTGCTCGCAT	0.607																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(646-648)Cgc>Tgc		EGF containing fibulin-like extracellular matrix protein 2							90.0	95.0	93.0					11																	65637409		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65637409G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.646C>T	11.37:g.65637409G>A	ENSP00000309953:p.Arg216Cys					EFEMP2_ENST00000528176.1_Missense_Mutation_p.R216C	p.R216C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	7	876	-			216			EGF-like 4; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.646C>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165288	0.78339	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;D	0.85702	-2.02;-2.02	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000055	D	0.90010	0.6881	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.88	D	0.89846	0.4006	10	0.56958	D	0.05	.	12.1058	0.53811	0.0:0.0:0.8283:0.1716	.	216;216	E9PRU1;O95967	.;FBLN4_HUMAN	C	216	ENSP00000434151:R216C;ENSP00000309953:R216C	ENSP00000309953:R216C	R	-	1	0	EFEMP2	65393985	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.489000	0.45285	2.644000	0.89710	0.561000	0.74099	CGC		0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		118	453	0	0	0	1	0	118	453				
DOPEY1	23033	broad.mit.edu	37	6	83848714	83848714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83848714C>T	ENST00000349129.2	+	21	5213	c.4953C>T	c.(4951-4953)caC>caT	p.H1651H	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000237163.5_Silent_p.H1632H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1651					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGCATCAGCACTGTGCATGTA	0.458																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4951-4953)caC>caT		dopey family member 1							139.0	114.0	122.0					6																	83848714		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83848714C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4953C>T	6.37:g.83848714C>T						DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000237163.5_Silent_p.H1632H|DOPEY1_ENST00000484282.1_3'UTR	p.H1651H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	5213	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1651					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.4953C>T	CCDS4996.1																																																																																				0.458	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		87	293	0	0	0	1	0	87	293				
IFT122	55764	broad.mit.edu	37	3	129238526	129238526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238526G>A	ENST00000348417.2	+	29	3664	c.3587G>A	c.(3586-3588)cGc>cAc	p.R1196H	IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000296266.3_Missense_Mutation_p.R1247H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000440957.2_Missense_Mutation_p.R987H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1196					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAATACTTCCGCTCACTGCTG	0.622																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3739-3741)cGc>cAc		intraflagellar transport 122 homolog (Chlamydomonas)							137.0	111.0	120.0					3																	129238526		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129238526G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3587G>A	3.37:g.129238526G>A	ENSP00000324005:p.Arg1196His					IFT122_ENST00000440957.2_Missense_Mutation_p.R987H|IFT122_ENST00000348417.2_Missense_Mutation_p.R1196H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H	p.R1247H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			30	3932	+			1196					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.3740G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423331	0.83559	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.63417	0.61;-0.04;0.1;0.15;0.76;0.75;0.6;0.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.83275	0.996;0.97;0.991;0.955;0.941;0.941;0.927;0.967;0.991;0.996	D	0.83452	0.0049	10	0.87932	D	0	-23.4214	20.428	0.99075	0.0:0.0:1.0:0.0	.	987;522;1189;584;1073;1038;1086;1137;1196;1247	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	1137;1247;1189;1046;1073;1086;1196;1038;987	ENSP00000323973:R1137H;ENSP00000296266:R1247H;ENSP00000425536:R1189H;ENSP00000410946:R1046H;ENSP00000422179:R1073H;ENSP00000324165:R1086H;ENSP00000324005:R1196H;ENSP00000401569:R987H	ENSP00000296266:R1247H	R	+	2	0	IFT122	130721216	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	9.792000	0.99085	2.837000	0.97791	0.655000	0.94253	CGC		0.622	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		81	421	0	0	0	1	0	81	421				
DLGAP5	9787	broad.mit.edu	37	14	55636179	55636179	+	Nonsense_Mutation	SNP	G	G	A	rs565083852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55636179G>A	ENST00000247191.2	-	12	1702	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	496					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTATACCTCGTTTATATTCA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		16074	0.001		0.0	False		,,,				2504	0.0					ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1486-1488)Cga>Tga		discs, large (Drosophila) homolog-associated protein 5							116.0	105.0	109.0					14																	55636179		2203	4300	6503	SO:0001587	stop_gained	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55636179G>A	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1486C>T	14.37:g.55636179G>A	ENSP00000247191:p.Arg496*					DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	p.R496*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			12	1702	-			496					A8MTM6|B4DRM8|Q86T11|Q8NG58	Nonsense_Mutation	SNP	ENST00000247191.2	37	c.1486C>T	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531200	0.85706	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	.	.	.	5.85	2.93	0.34026	.	0.242538	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1119	0.42568	0.1297:0.1155:0.7548:0.0	.	.	.	.	X	496	.	ENSP00000247191:R496X	R	-	1	2	DLGAP5	54705932	0.996000	0.38824	0.101000	0.21167	0.009000	0.06853	2.861000	0.48380	0.897000	0.36392	-0.140000	0.14226	CGA		0.363	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		65	306	0	0	0	1	0	65	306				
ZKSCAN7	55888	broad.mit.edu	37	3	44611810	44611810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44611810G>T	ENST00000273320.3	+	6	1637	c.1208G>T	c.(1207-1209)aGa>aTa	p.R403I	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R403I|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	403					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCCATCAGAGAATCCACACT	0.458																																						ENST00000273320.3																			0											c.(1207-1209)aGa>aTa		zinc finger with KRAB and SCAN domains 7							78.0	80.0	79.0					3																	44611810		2203	4300	6503	SO:0001583	missense	55888							g.chr3:44611810G>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1208G>T	3.37:g.44611810G>T	ENSP00000273320:p.Arg403Ile					ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R403I|RP11-944L7.4_ENST00000457331.1_RNA	p.R403I	NM_018651.2	NP_061121.2					6	1637	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1208G>T	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	18.90	3.721031	0.68959	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.24908	1.83;1.83;4.29	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002826	T	0.39384	0.1076	L	0.31664	0.95	0.48632	D	0.999684	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.976	T	0.30475	-0.9977	10	0.59425	D	0.04	-13.1671	15.8256	0.78703	0.0:0.0:1.0:0.0	.	273;403	A7MAY2;Q9P0L1	.;ZN167_HUMAN	I	403;403;252	ENSP00000395524:R403I;ENSP00000273320:R403I;ENSP00000405034:R252I	ENSP00000273320:R403I	R	+	2	0	ZNF167	44586814	0.001000	0.12720	1.000000	0.80357	0.994000	0.84299	0.358000	0.20216	2.267000	0.75376	0.650000	0.86243	AGA		0.458	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		51	510	1	0	3.4597e-24	1	3.94879e-24	51	510				
UBA1	7317	broad.mit.edu	37	X	47065399	47065399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47065399T>C	ENST00000335972.6	+	15	1811	c.1628T>C	c.(1627-1629)aTc>aCc	p.I543T	UBA1_ENST00000377351.4_Missense_Mutation_p.I543T|UBA1_ENST00000490869.1_Intron|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377269.3_5'Flank	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	543	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCCACATATCCGGGTGACA	0.522																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1627-1629)aTc>aCc		ubiquitin-like modifier activating enzyme 1							47.0	35.0	39.0					X																	47065399		2201	4299	6500	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47065399T>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1628T>C	X.37:g.47065399T>C	ENSP00000338413:p.Ile543Thr					UBA1_ENST00000490869.1_Intron|UBA1_ENST00000377351.4_Missense_Mutation_p.I543T	p.I543T	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			15	1811	+			543			2 approximate repeats.		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.1628T>C	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253058	0.59212	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.46819	0.86;0.86	4.63	4.63	0.57726	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.259842	0.38720	N	0.001585	T	0.49338	0.1551	L	0.55990	1.75	0.80722	D	1	B	0.31256	0.316	B	0.39339	0.297	T	0.54357	-0.8306	10	0.72032	D	0.01	-20.5189	12.3933	0.55370	0.0:0.0:0.0:1.0	.	543	P22314	UBA1_HUMAN	T	543	ENSP00000366568:I543T;ENSP00000338413:I543T	ENSP00000338413:I543T	I	+	2	0	UBA1	46950343	0.983000	0.35010	0.849000	0.33467	0.954000	0.61252	7.959000	0.87885	1.630000	0.50440	0.483000	0.47432	ATC		0.522	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		7	73	0	0	0	1	0	7	73				
MPV17L2	84769	broad.mit.edu	37	19	18305857	18305857	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305857G>A	ENST00000599612.2	+	4	625	c.525G>A	c.(523-525)acG>acA	p.T175T		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	175						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						ACGGCCTGACGCTGGGCTGGG	0.622																																						ENST00000534474.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(448-450)Gct>Act		MPV17 mitochondrial membrane protein-like 2							109.0	110.0	110.0					19																	18305857		2090	4220	6310	SO:0001819	synonymous_variant	84769					integral to membrane		g.chr19:18305857G>A	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.525G>A	19.37:g.18305857G>A						MPV17L2_ENST00000599612.2_Silent_p.T175T	p.A150T			Q567V2	M17L2_HUMAN			3	498	+			0					Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	ENST00000599612.2	37	c.448G>A	CCDS42522.1																																																																																				0.622	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		101	404	0	0	0	1	0	101	404				
KIAA1522	57648	broad.mit.edu	37	1	33236217	33236217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33236217G>A	ENST00000373480.1	+	6	1363	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	KIAA1522_ENST00000401073.2_Silent_p.R479R|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.R431R	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	420	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCAGCATTCGGAGCAGTGGGC	0.672																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1435-1437)cgG>cgA		KIAA1522							31.0	36.0	34.0					1																	33236217		2065	4199	6264	SO:0001819	synonymous_variant	57648							g.chr1:33236217G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1260G>A	1.37:g.33236217G>A						KIAA1522_ENST00000373481.3_Silent_p.R431R|KIAA1522_ENST00000373480.1_Silent_p.R420R|KIAA1522_ENST00000294521.3_Intron	p.R479R	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1507	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	420			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.1437G>A	CCDS55588.1																																																																																				0.672	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			14	130	0	0	0	1	0	14	130				
KCNMA1	3778	broad.mit.edu	37	10	78647147	78647147	+	Silent	SNP	C	C	T	rs75138661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78647147C>T	ENST00000286628.8	-	28	3587	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Silent_p.S1200S|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.S1199S|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000372443.1_Silent_p.S1165S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286627.5_Silent_p.S1138S|KCNMA1_ENST00000404857.1_Silent_p.S1179S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1196					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGGAGGACTGCGACGAGTGGG	0.582																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3412-3414)tcG>tcA		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						100.0	87.0	92.0					10																	78647147		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647147C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3588G>A	10.37:g.78647147C>T						KCNMA1_ENST00000354353.5_Silent_p.S1199S|KCNMA1_ENST00000286628.8_Silent_p.S1196S|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000372443.1_Silent_p.S1165S|KCNMA1_ENST00000406533.3_Silent_p.S1200S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|KCNMA1_ENST00000404857.1_Silent_p.S1179S	p.S1138S	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	4366	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1196					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.3414G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.339|8.339	0.828282|0.828282	0.16749|0.16749	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.11|5.11	0.661|0.661	0.17874|0.17874	.|.	.|.	.|.	.|.	.|.	T|T	0.58047|0.58047	0.2095|0.2095	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50583|0.50583	-0.8811|-0.8811	4|4	.|.	.|.	.|.	-9.7283|-9.7283	10.3757|10.3757	0.44081|0.44081	0.0:0.4673:0.3558:0.1768|0.0:0.4673:0.3558:0.1768	.|.	.|.	.|.	.|.	T|H	1127;846|1089	.|.	.|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78317153|78317153	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.979000|0.979000	0.70002|0.70002	0.538000|0.538000	0.23160|0.23160	-0.168000|-0.168000	0.10853|0.10853	-0.384000|-0.384000	0.06662|0.06662	GCA|CGC		0.582	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		87	374	0	0	0	1	0	87	374				
SALL4	57167	broad.mit.edu	37	20	50406636	50406636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406636C>T	ENST00000217086.4	-	2	2497	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	796					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGATGCTTTCGGCTTGACTA	0.527																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2386-2388)Gaa>Aaa		spalt-like transcription factor 4							77.0	75.0	76.0					20																	50406636		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406636C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2386G>A	20.37:g.50406636C>T	ENSP00000217086:p.Glu796Lys					SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	p.E796K	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	2497	-			796					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2386G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687702	0.48097	.	.	ENSG00000101115	ENST00000217086	T	0.09723	2.95	5.67	5.67	0.87782	.	0.162064	0.29246	N	0.012702	T	0.19725	0.0474	M	0.77820	2.39	0.80722	D	1	D	0.56968	0.978	B	0.43155	0.41	T	0.06826	-1.0805	10	0.25106	T	0.35	-22.0237	19.7711	0.96366	0.0:1.0:0.0:0.0	.	796	Q9UJQ4	SALL4_HUMAN	K	796	ENSP00000217086:E796K	ENSP00000217086:E796K	E	-	1	0	SALL4	49840043	0.929000	0.31497	0.817000	0.32601	0.670000	0.39368	3.108000	0.50337	2.654000	0.90174	0.655000	0.94253	GAA		0.527	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			78	340	0	0	0	1	0	78	340				
INPP4A	3631	broad.mit.edu	37	2	99185040	99185040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99185040C>T	ENST00000523221.1	+	21	2442	c.2442C>T	c.(2440-2442)ggC>ggT	p.G814G	INPP4A_ENST00000409016.4_Silent_p.G775G|INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000545415.1_Silent_p.G775G|INPP4A_ENST00000074304.5_Silent_p.G814G|INPP4A_ENST00000409851.3_Silent_p.G809G|INPP4A_ENST00000467042.1_3'UTR			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	814					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAAGGTTTGGCGATACGTCTT	0.413																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(2440-2442)ggC>ggT		inositol polyphosphate-4-phosphatase, type I, 107kDa							103.0	98.0	100.0					2																	99185040		1918	4118	6036	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99185040C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2442C>T	2.37:g.99185040C>T						INPP4A_ENST00000545415.1_Silent_p.G775G|INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000523221.1_Silent_p.G814G|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000409016.3_Silent_p.G775G|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409851.3_Silent_p.G809G	p.G814G	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			23	2835	+			814					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.2442C>T	CCDS46369.1																																																																																				0.413	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		8	49	0	0	0	1	0	8	49				
PHACTR4	65979	broad.mit.edu	37	1	28800249	28800249	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28800249C>T	ENST00000373839.3	+	7	1268	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.P346L	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	336	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTACTACCAATGATCTCA	0.527																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1006-1008)cCa>cTa		phosphatase and actin regulator 4							199.0	205.0	203.0					1																	28800249		2084	4207	6291	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800249C>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1007C>T	1.37:g.28800249C>T	ENSP00000362945:p.Pro336Leu					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.P346L	p.P336L	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1268	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	336			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1007C>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.701916	0.00725	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23754	1.92;1.89	5.64	-1.54	0.08584	.	1.460140	0.04085	N	0.310320	T	0.13457	0.0326	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23797	-1.0178	10	0.16420	T	0.52	1.6241	5.8643	0.18767	0.1764:0.5245:0.0:0.299	.	346;336	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	L	336;346;335	ENSP00000362945:P336L;ENSP00000362942:P346L	ENSP00000362942:P346L	P	+	2	0	PHACTR4	28672836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.057000	0.16193	-0.355000	0.07637	CCA		0.527	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		14	831	0	0	0	1	0	14	831				
UBQLNL	143630	broad.mit.edu	37	11	5537124	5537124	+	Missense_Mutation	SNP	C	C	T	rs557573869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537124C>T	ENST00000380184.1	-	1	811	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	183										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGACAGAAGCCGCTGGATGCT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		22566	0.001		0.0	False		,,,				2504	0.0					ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(547-549)cGg>cAg		ubiquilin-like							115.0	114.0	114.0					11																	5537124		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537124C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.548G>A	11.37:g.5537124C>T	ENSP00000369531:p.Arg183Gln					HBG2_ENST00000380259.2_Intron	p.R183Q	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	811	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	183					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.548G>A	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	8.789	0.930198	0.18131	.	.	ENSG00000175518	ENST00000380184	T	0.43688	0.94	4.86	0.362	0.16113	.	0.520058	0.16070	N	0.231065	T	0.17023	0.0409	N	0.04636	-0.2	0.21020	N	0.9998	B	0.13594	0.008	B	0.06405	0.002	T	0.22452	-1.0216	10	0.21014	T	0.42	.	7.0333	0.24979	0.0:0.536:0.0:0.464	.	183	Q8IYU4	UBQLN_HUMAN	Q	183	ENSP00000369531:R183Q	ENSP00000369531:R183Q	R	-	2	0	UBQLNL	5493700	0.068000	0.21057	0.042000	0.18584	0.801000	0.45260	-0.297000	0.08276	-0.072000	0.12864	0.650000	0.86243	CGG		0.493	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		24	595	0	0	0	1	0	24	595				
CCT6P1	643253	broad.mit.edu	37	7	65220610	65220610	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65220610T>G	ENST00000442266.1	+	0	282				SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AAAGGAATATTTATCCTTTTA	0.403																																						ENST00000442266.1																			0																				142.0	140.0	140.0					7																	65220610		876	1991	2867			0							g.chr7:65220610T>G	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65220610T>G						SNORA22_ENST00000383907.1_RNA								0	282	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.403	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		121	517	0	0	0	1	0	121	517				
ZNF382	84911	broad.mit.edu	37	19	37118220	37118220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118220G>A	ENST00000292928.2	+	5	1534	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	ZNF382_ENST00000423582.1_Missense_Mutation_p.R425H|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.R473H|ZNF382_ENST00000439428.1_Missense_Mutation_p.R473H	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	474	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGGCA	0.463																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1417-1419)cGc>cAc		zinc finger protein 382							53.0	56.0	55.0					19																	37118220		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118220G>A	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1421G>A	19.37:g.37118220G>A	ENSP00000292928:p.Arg474His					ZNF382_ENST00000423582.1_Missense_Mutation_p.R425H|ZNF382_ENST00000292928.2_Missense_Mutation_p.R474H|ZNF382_ENST00000439428.1_Missense_Mutation_p.R473H	p.R473H			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2913	+	Esophageal squamous(110;0.198)		474			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1418G>A	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.698821	0.48307	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.27	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160272	0.29916	N	0.010865	T	0.14960	0.0361	L	0.33339	1.005	0.28535	N	0.912416	P;P;D	0.53885	0.954;0.954;0.963	P;P;P	0.45794	0.481;0.481;0.493	T	0.04268	-1.0964	10	0.49607	T	0.09	.	10.1576	0.42831	0.0:0.3192:0.6808:0.0	.	473;473;474	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	H	425;474;473;473	ENSP00000389722:R425H;ENSP00000292928:R474H;ENSP00000407593:R473H;ENSP00000410113:R473H	ENSP00000292928:R474H	R	+	2	0	ZNF382	41810060	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.056000	0.11787	2.375000	0.81037	0.591000	0.81541	CGC		0.463	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		16	224	0	0	0	1	0	16	224				
COL20A1	57642	broad.mit.edu	37	20	61958146	61958146	+	Nonsense_Mutation	SNP	C	C	T	rs577136410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958146C>T	ENST00000358894.6	+	31	3599	c.3499C>T	c.(3499-3501)Cga>Tga	p.R1167*	COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.R1199*|COL20A1_ENST00000422202.1_Nonsense_Mutation_p.R1174*	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1167	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TAGTGGAGAGCGAGGACCTCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18508	0.0		0.001	False		,,,				2504	0.0					ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3520-3522)Cga>Tga		collagen, type XX, alpha 1							29.0	33.0	31.0					20																	61958146		1986	4149	6135	SO:0001587	stop_gained	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61958146C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3499C>T	20.37:g.61958146C>T	ENSP00000351767:p.Arg1167*					COL20A1_ENST00000326996.6_Nonsense_Mutation_p.R1199*|COL20A1_ENST00000358894.6_Nonsense_Mutation_p.R1167*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*	p.R1174*			Q9P218	COKA1_HUMAN			30	3588	+	all_cancers(38;1.39e-10)		1167			Collagen-like 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Nonsense_Mutation	SNP	ENST00000358894.6	37	c.3520C>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	38	6.702925	0.97776	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.	.	.	3.92	0.239	0.15484	.	0.240310	0.34046	U	0.004304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.5301	0.16980	0.6065:0.281:0.0:0.1126	.	.	.	.	X	1167;1199;1174;1174;302;157	.	ENSP00000323077:R1199X	R	+	1	2	COL20A1	61428590	0.056000	0.20664	0.946000	0.38457	0.007000	0.05969	0.001000	0.13038	0.168000	0.19655	-0.666000	0.03841	CGA		0.617	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		9	41	0	0	0	1	0	9	41				
XIRP2	129446	broad.mit.edu	37	2	168103993	168103993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103993G>T	ENST00000409195.1	+	9	6180	c.6091G>T	c.(6091-6093)Gat>Tat	p.D2031Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1856					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATTGTCATAGATCGTGAACA	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(6091-6093)Gat>Tat		xin actin-binding repeat containing 2							65.0	60.0	62.0					2																	168103993		1847	4090	5937	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103993G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6091G>T	2.37:g.168103993G>T	ENSP00000386840:p.Asp2031Tyr					XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.D2031Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6180	+			1856					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6091G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165017	0.38217	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.23147	1.92;1.92;1.92	5.73	4.85	0.62838	.	0.574989	0.19405	N	0.115071	T	0.43678	0.1258	M	0.63428	1.95	0.37711	D	0.924572	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69479	0.921;0.964;0.964	T	0.49818	-0.8899	10	0.72032	D	0.01	-17.3679	7.9073	0.29769	0.2391:0.0:0.7609:0.0	.	1856;1856;1809	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2031;2031;1809	ENSP00000386840:D2031Y;ENSP00000295237:D2031Y;ENSP00000387255:D1809Y	ENSP00000295237:D2031Y	D	+	1	0	XIRP2	167812239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.304000	0.43655	1.441000	0.47550	-0.145000	0.13849	GAT		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		72	249	1	0	9.25274e-37	1	1.1089e-36	72	249				
GRIN2D	2906	broad.mit.edu	37	19	48908591	48908591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908591C>T	ENST00000263269.3	+	3	1154	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	356					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGCACCCACCGCGGCGAGAG	0.622																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1066-1068)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						15.0	17.0	16.0					19																	48908591		2201	4294	6495	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908591C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1066C>T	19.37:g.48908591C>T	ENSP00000263269:p.Arg356Cys						p.R356C	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	1154	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	356						Missense_Mutation	SNP	ENST00000263269.3	37	c.1066C>T	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134044	0.56828	.	.	ENSG00000105464	ENST00000263269	T	0.16073	2.37	4.32	4.32	0.51571	.	0.456329	0.18899	N	0.128097	T	0.17874	0.0429	L	0.44542	1.39	0.37251	D	0.906555	D	0.71674	0.998	P	0.48654	0.585	T	0.05468	-1.0883	10	0.56958	D	0.05	.	5.8638	0.18762	0.1928:0.7069:0.0:0.1002	.	356	O15399	NMDE4_HUMAN	C	356	ENSP00000263269:R356C	ENSP00000263269:R356C	R	+	1	0	GRIN2D	53600403	0.238000	0.23825	1.000000	0.80357	0.915000	0.54546	1.184000	0.32053	2.116000	0.64780	0.561000	0.74099	CGC		0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			22	77	0	0	0	1	0	22	77				
ZNF524	147807	broad.mit.edu	37	19	56114114	56114114	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56114114G>A	ENST00000591046.1	+	1	870	c.636G>A	c.(634-636)acG>acA	p.T212T	ZNF524_ENST00000301073.3_Silent_p.T212T|ZNF865_ENST00000568956.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T212T(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGGCCAACACGCTCCGGCGCC	0.706																																						ENST00000591046.1																			1	Substitution - coding silent(1)	p.T212T(1)	lung(1)	breast(1)|large_intestine(2)|lung(6)|prostate(1)	10						c.(634-636)acG>acA		zinc finger protein 524							16.0	15.0	15.0					19																	56114114		2147	4218	6365	SO:0001819	synonymous_variant	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56114114G>A	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.636G>A	19.37:g.56114114G>A						ZNF524_ENST00000301073.3_Silent_p.T212T	p.T212T			Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	870	+			212					Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	c.636G>A	CCDS12929.1																																																																																				0.706	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		27	110	0	0	0	1	0	27	110				
DSC3	1825	broad.mit.edu	37	18	28576801	28576801	+	Missense_Mutation	SNP	T	T	G	rs115171596	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28576801T>G	ENST00000360428.4	-	15	2529	c.2449A>C	c.(2449-2451)Act>Cct	p.T817P	DSC3_ENST00000434452.1_Missense_Mutation_p.T817P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	817					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCGAGTAAGTGTATCTGCAG	0.507																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2449-2451)Act>Cct		desmocollin 3							102.0	87.0	92.0					18																	28576801		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28576801T>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2449A>C	18.37:g.28576801T>G	ENSP00000353608:p.Thr817Pro					DSC3_ENST00000360428.4_Missense_Mutation_p.T817P	p.T817P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		15	2603	-			817					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2449A>C	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	T	7.387	0.630069	0.14257	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.77098	-1.07;0.36	4.57	2.14	0.27477	Cadherin, cytoplasmic domain (1);	0.499351	0.14992	N	0.286653	D	0.84202	0.5420	M	0.76838	2.35	0.24595	N	0.993807	D;D	0.67145	0.983;0.996	D;D	0.67725	0.917;0.953	T	0.72513	-0.4270	10	0.72032	D	0.01	.	5.1958	0.15236	0.1406:0.1556:0.0:0.7039	.	817;817	Q14574;Q14574-2	DSC3_HUMAN;.	P	817	ENSP00000353608:T817P;ENSP00000392068:T817P	ENSP00000353608:T817P	T	-	1	0	DSC3	26830799	0.994000	0.37717	0.554000	0.28268	0.608000	0.37181	1.385000	0.34408	0.346000	0.23899	0.533000	0.62120	ACT		0.507	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		55	279	0	0	0	1	0	55	279				
SSMEM1	136263	broad.mit.edu	37	7	129856189	129856189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129856189G>T	ENST00000297819.3	+	3	665	c.614G>T	c.(613-615)aGa>aTa	p.R205I		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	205						integral component of membrane (GO:0016021)											AAAGCCTTGAGAACCAACGAA	0.468																																						ENST00000297819.3																			0											c.(613-615)aGa>aTa		serine-rich single-pass membrane protein 1							138.0	139.0	139.0					7																	129856189		2203	4300	6503	SO:0001583	missense	136263							g.chr7:129856189G>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.614G>T	7.37:g.129856189G>T	ENSP00000297819:p.Arg205Ile						p.R205I	NM_145268.3	NP_660311.1					3	665	+									Missense_Mutation	SNP	ENST00000297819.3	37	c.614G>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838696	0.51057	.	.	ENSG00000165120	ENST00000297819	T	0.59772	0.24	5.26	4.38	0.52667	.	0.081025	0.52532	N	0.000066	T	0.56187	0.1968	M	0.69823	2.125	0.45502	D	0.998464	P	0.40731	0.728	B	0.37451	0.25	T	0.63368	-0.6653	10	0.87932	D	0	-22.0352	12.6902	0.56970	0.0:0.0:0.8349:0.1651	.	205	Q8WWF3	CG045_HUMAN	I	205	ENSP00000297819:R205I	ENSP00000297819:R205I	R	+	2	0	C7orf45	129643425	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	3.376000	0.52417	1.338000	0.45544	0.491000	0.48974	AGA		0.468	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		130	676	1	0	2.94363e-73	1	3.74679e-73	130	676				
GRIK2	2898	broad.mit.edu	37	6	102376473	102376473	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102376473C>T	ENST00000421544.1	+	13	2541	c.2051C>T	c.(2050-2052)gCa>gTa	p.A684V	GRIK2_ENST00000369138.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	684					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAATATGGAGCAGTAGAGGAT	0.393																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2050-2052)gCa>gTa		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						99.0	92.0	94.0					6																	102376473		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102376473C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2051C>T	6.37:g.102376473C>T	ENSP00000397026:p.Ala684Val					GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000421544.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V	p.A684V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	13	2541	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	684					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2051C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625228	0.46840	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134	T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1	5.9	5.9	0.94986	Ionotropic glutamate receptor (2);	0.056708	0.64402	D	0.000001	T	0.02455	0.0075	N	0.03881	-0.34	0.45227	D	0.998232	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.15052	0.012;0.012;0.007	T	0.51537	-0.8693	10	0.48119	T	0.1	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	684;684;684	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	684;684;684;608;684;635	ENSP00000397026:A684V;ENSP00000405596:A684V;ENSP00000358134:A684V;ENSP00000358133:A608V;ENSP00000313276:A684V;ENSP00000358130:A635V	ENSP00000313276:A684V	A	+	2	0	GRIK2	102483166	1.000000	0.71417	0.953000	0.39169	0.995000	0.86356	5.612000	0.67681	2.786000	0.95864	0.563000	0.77884	GCA		0.393	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			38	221	0	0	0	1	0	38	221				
DCHS1	8642	broad.mit.edu	37	11	6644403	6644403	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644403A>G	ENST00000299441.3	-	21	8915	c.8504T>C	c.(8503-8505)gTg>gCg	p.V2835A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2835	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGCCTGCACGTGACCCAA	0.567																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(8503-8505)gTg>gCg		dachsous cadherin-related 1							33.0	30.0	31.0					11																	6644403		2200	4293	6493	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6644403A>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8504T>C	11.37:g.6644403A>G	ENSP00000299441:p.Val2835Ala						p.V2835A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8915	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2835			Cadherin 27.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8504T>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934826	0.73442	.	.	ENSG00000166341	ENST00000299441	T	0.68624	-0.34	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.35739	N	0.003019	T	0.81740	0.4886	M	0.89968	3.075	0.58432	D	0.999998	D	0.67145	0.996	P	0.58266	0.836	D	0.85659	0.1287	10	0.62326	D	0.03	.	13.6294	0.62186	1.0:0.0:0.0:0.0	.	2835	Q96JQ0	PCD16_HUMAN	A	2835	ENSP00000299441:V2835A	ENSP00000299441:V2835A	V	-	2	0	DCHS1	6600979	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.139000	0.94554	2.092000	0.63282	0.533000	0.62120	GTG		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	53	0	0	0	1	0	9	53				
RASGRF2	5924	broad.mit.edu	37	5	80404827	80404827	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80404827A>G	ENST00000265080.4	+	13	1835	c.1768A>G	c.(1768-1770)Ata>Gta	p.I590V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	590					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGGACAATATACGATGTAA	0.338																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1768-1770)Ata>Gta		Ras protein-specific guanine nucleotide-releasing factor 2							167.0	159.0	162.0					5																	80404827		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80404827A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1768A>G	5.37:g.80404827A>G	ENSP00000265080:p.Ile590Val						p.I590V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	13	1835	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	590					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1768A>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066701	0.55539	.	.	ENSG00000113319	ENST00000265080	T	0.53857	0.6	5.67	5.67	0.87782	Pleckstrin homology domain (1);	0.040419	0.85682	D	0.000000	T	0.47619	0.1455	L	0.42487	1.325	0.54753	D	0.999984	B	0.28605	0.217	B	0.31547	0.132	T	0.38887	-0.9640	10	0.27082	T	0.32	.	15.6369	0.76961	1.0:0.0:0.0:0.0	.	590	O14827	RGRF2_HUMAN	V	590	ENSP00000265080:I590V	ENSP00000265080:I590V	I	+	1	0	RASGRF2	80440583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.224000	0.78042	2.165000	0.68154	0.454000	0.30748	ATA		0.338	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		47	229	0	0	0	1	0	47	229				
MIR34A	407040	broad.mit.edu	37	1	9211744	9211744	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9211744G>T	ENST00000385130.1	-	0	92					NR_029610.1				microRNA 34a																		ACAACGTGCAGCACTTCTAGG	0.557																																						ENST00000385130.1																			0																				319.0	290.0	299.0					1																	9211744		1568	3582	5150			0							g.chr1:9211744G>T			1p36.22|1p36.22	2011-09-12		2008-12-18	ENSG00000207865	ENSG00000207865		"""ncRNAs / Micro RNAs"""	31635	non-coding RNA	RNA, micro		611172		MIRN34A			Standard	NR_029610		Approved	hsa-mir-34a					1.37:g.9211744G>T								NR_029610.1						0	92	-									RNA	SNP	ENST00000385130.1	37																																																																																						0.557	MIR34A-201	KNOWN	basic	miRNA	miRNA		NR_029610		142	1415	1	0	1.45978e-39	1	1.7657e-39	142	1415				
KIAA1524	57650	broad.mit.edu	37	3	108308205	108308205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108308205G>T	ENST00000295746.8	-	1	94	c.18C>A	c.(16-18)tgC>tgA	p.C6*	KIAA1524_ENST00000487834.1_5'UTR|DZIP3_ENST00000361582.3_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	6					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGACTTCAAGCAGGCAGTGG	0.602																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(16-18)tgC>tgA		KIAA1524							44.0	37.0	40.0					3																	108308205		2203	4300	6503	SO:0001587	stop_gained	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108308205G>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.18C>A	3.37:g.108308205G>T	ENSP00000295746:p.Cys6*					KIAA1524_ENST00000487834.1_5'UTR	p.C6*	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			1	94	-			6					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Nonsense_Mutation	SNP	ENST00000295746.8	37	c.18C>A	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202310	0.79127	.	.	ENSG00000163507	ENST00000295746	.	.	.	5.14	3.34	0.38264	.	0.161155	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8924	9.5041	0.39035	0.2272:0.0:0.7728:0.0	.	.	.	.	X	6	.	ENSP00000295746:C6X	C	-	3	2	KIAA1524	109790895	0.956000	0.32656	1.000000	0.80357	0.359000	0.29487	0.586000	0.23894	1.531000	0.49152	0.655000	0.94253	TGC		0.602	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		27	92	1	0	4.87955e-14	1	5.28594e-14	27	92				
USP53	54532	broad.mit.edu	37	4	120177606	120177606	+	Missense_Mutation	SNP	G	G	A	rs141895329	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120177606G>A	ENST00000274030.6	+	9	1676	c.497G>A	c.(496-498)cGt>cAt	p.R166H	USP53_ENST00000450251.1_Missense_Mutation_p.R166H	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGTGTGTGTCGTAGCTGTGGA	0.333													G|||	3	0.000599042	0.0	0.0	5008	,	,		17824	0.002		0.001	False		,,,				2504	0.0					ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(496-498)cGt>cAt		ubiquitin specific peptidase 53		G	HIS/ARG	1,3779		0,1,1889	168.0	160.0	163.0		497	4.8	1.0	4	dbSNP_134	163	0,8244		0,0,4122	yes	missense	USP53	NM_019050.2	29	0,1,6011	AA,AG,GG		0.0,0.0265,0.0083	probably-damaging	166/1074	120177606	1,12023	1890	4122	6012	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120177606G>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.497G>A	4.37:g.120177606G>A	ENSP00000274030:p.Arg166His					USP53_ENST00000274030.6_Missense_Mutation_p.R166H	p.R166H			Q70EK8	UBP53_HUMAN			5	1041	+			166						Missense_Mutation	SNP	ENST00000274030.6	37	c.497G>A	CCDS43265.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.82	3.705380	0.68615	2.65E-4	0.0	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.31510	1.49;1.49	5.6	4.76	0.60689	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.156127	0.64402	N	0.000016	T	0.40372	0.1114	L	0.31065	0.9	0.36361	D	0.860725	D	0.89917	1.0	D	0.79784	0.993	T	0.49113	-0.8973	10	0.52906	T	0.07	-11.342	9.8648	0.41136	0.0731:0.1396:0.7873:0.0	.	166	Q70EK8	UBP53_HUMAN	H	166	ENSP00000274030:R166H;ENSP00000409906:R166H	ENSP00000274030:R166H	R	+	2	0	USP53	120397054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.720000	0.68470	1.354000	0.45846	0.563000	0.77884	CGT		0.333	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		90	387	0	0	0	1	0	90	387				
MGAT5	4249	broad.mit.edu	37	2	135028024	135028024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135028024G>A	ENST00000409645.1	+	3	561	c.309G>A	c.(307-309)aaG>aaA	p.K103K	MGAT5_ENST00000281923.2_Silent_p.K103K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	103					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGAGTCGAAGGTGGACAATC	0.413																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(307-309)aaG>aaA		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							130.0	117.0	121.0					2																	135028024		2203	4300	6503	SO:0001819	synonymous_variant	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135028024G>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.309G>A	2.37:g.135028024G>A						MGAT5_ENST00000281923.2_Silent_p.K103K	p.K103K			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	3	561	+			103					D3DP70	Silent	SNP	ENST00000409645.1	37	c.309G>A	CCDS2171.1																																																																																				0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		29	263	0	0	0	1	0	29	263				
PRKAA2	5563	broad.mit.edu	37	1	57170116	57170116	+	Nonsense_Mutation	SNP	C	C	T	rs574007984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57170116C>T	ENST00000371244.4	+	7	1327	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	421					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TGAAGTTTACCGAGCTATGAA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.001					ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1261-1263)Cga>Tga		protein kinase, AMP-activated, alpha 2 catalytic subunit							88.0	91.0	90.0					1																	57170116		2203	4300	6503	SO:0001587	stop_gained	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57170116C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1261C>T	1.37:g.57170116C>T	ENSP00000360290:p.Arg421*						p.R421*	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			7	1327	+			421					Q9H1E8|Q9UD43	Nonsense_Mutation	SNP	ENST00000371244.4	37	c.1261C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	38	6.757115	0.97817	.	.	ENSG00000162409	ENST00000371244	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5127	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	421	.	ENSP00000360290:R421X	R	+	1	2	PRKAA2	56942704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.170000	0.42443	2.941000	0.99782	0.655000	0.94253	CGA		0.383	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		100	408	0	0	0	1	0	100	408				
DGKK	139189	broad.mit.edu	37	X	50144087	50144087	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144087G>A	ENST00000376025.2	-	0	1418							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGAGCGATGGCTTCTGAAGC	0.473																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							77.0	67.0	70.0					X																	50144087		1957	4138	6095			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50144087G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50144087G>A										Q5KSL6	DGKK_HUMAN			0	1418	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.473	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		14	42	0	0	0	1	0	14	42				
TPGS2	25941	broad.mit.edu	37	18	34385438	34385438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34385438G>A	ENST00000334295.4	-	4	708	c.281C>T	c.(280-282)gCa>gTa	p.A94V	TPGS2_ENST00000587129.1_Missense_Mutation_p.A94V|TPGS2_ENST00000590842.1_Missense_Mutation_p.A94V|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000589049.1_Missense_Mutation_p.A94V|TPGS2_ENST00000593035.1_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	94						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCTGTTAATTGCCATGCTTCC	0.453																																						ENST00000334295.4																			0											c.(280-282)gCa>gTa		tubulin polyglutamylase complex subunit 2							285.0	238.0	254.0					18																	34385438		2203	4300	6503	SO:0001583	missense	25941					cytoplasm|microtubule		g.chr18:34385438G>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.281C>T	18.37:g.34385438G>A	ENSP00000335144:p.Ala94Val					TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000589049.1_Missense_Mutation_p.A94V|TPGS2_ENST00000590842.1_Missense_Mutation_p.A94V|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000587129.1_Missense_Mutation_p.A94V	p.A94V	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN			4	708	-			94					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Missense_Mutation	SNP	ENST00000334295.4	37	c.281C>T	CCDS32817.1	.	.	.	.	.	.	.	.	.	.	G	2.300	-0.360289	0.05103	.	.	ENSG00000134779	ENST00000334295	T	0.28069	1.63	5.7	1.34	0.21922	Cell wall assembly/cell proliferation coordinating protein, KNR4-like (1);	0.796894	0.11948	N	0.513942	T	0.08582	0.0213	N	0.01352	-0.895	0.20074	N	0.999934	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.35674	-0.9779	10	0.02654	T	1	0.2599	7.9957	0.30267	0.5525:0.0:0.4475:0.0	.	94;94	Q68CL5-3;Q68CL5	.;TPGS2_HUMAN	V	94	ENSP00000335144:A94V	ENSP00000335144:A94V	A	-	2	0	C18orf10	32639436	0.975000	0.34042	0.987000	0.45799	0.508000	0.34012	1.522000	0.35921	0.335000	0.23614	0.655000	0.94253	GCA		0.453	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		111	492	0	0	0	1	0	111	492				
P2RY1	5028	broad.mit.edu	37	3	152554367	152554367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554367C>A	ENST00000305097.3	+	1	1632	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	266					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AATCATTGTACTGACTGTTTT	0.423																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(796-798)Ctg>Atg		purinergic receptor P2Y, G-protein coupled, 1							114.0	112.0	112.0					3																	152554367		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554367C>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.796C>A	3.37:g.152554367C>A	ENSP00000304767:p.Leu266Met						p.L266M	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1632	+			266						Missense_Mutation	SNP	ENST00000305097.3	37	c.796C>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967582	0.34754	.	.	ENSG00000169860	ENST00000305097	T	0.37915	1.17	5.58	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.48295	0.1492	L	0.49778	1.585	0.50039	D	0.999849	D	0.76494	0.999	D	0.91635	0.999	T	0.35525	-0.9785	10	0.37606	T	0.19	.	7.3074	0.26455	0.0:0.6641:0.0:0.3359	.	266	P47900	P2RY1_HUMAN	M	266	ENSP00000304767:L266M	ENSP00000304767:L266M	L	+	1	2	P2RY1	154037057	1.000000	0.71417	0.378000	0.26068	0.476000	0.33039	3.828000	0.55753	0.725000	0.32318	-0.253000	0.11424	CTG		0.423	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		77	342	1	0	3.00167e-28	1	3.48911e-28	77	342				
EYA2	2139	broad.mit.edu	37	20	45725724	45725724	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45725724C>T	ENST00000327619.5	+	9	1179	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	EYA2_ENST00000317304.6_Splice_Site_p.R269C|EYA2_ENST00000357410.3_Splice_Site_p.R269C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	269					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCATCACAGCGTGTGTTCGT	0.423																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.e9-1		eyes absent homolog 2 (Drosophila)							232.0	209.0	217.0					20																	45725724		2203	4300	6503	SO:0001630	splice_region_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45725724C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.805-1C>T	20.37:g.45725724C>T						EYA2_ENST00000357410.3_Splice_Site_p.R269_splice|EYA2_ENST00000317304.6_Splice_Site_p.R269_splice	p.R269_splice	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			9	1179	+		Myeloproliferative disorder(115;0.0241)	269					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Splice_Site	SNP	ENST00000327619.5	37	c.804_splice	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403005	0.83230	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.67	5.67	0.87782	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.92766	0.6228	9	.	.	.	-3.3947	19.773	0.96379	0.0:1.0:0.0:0.0	.	269;269;269;269	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	269;269;269;269;140	ENSP00000333640:R269C;ENSP00000349986:R269C;ENSP00000321590:R269C;ENSP00000395427:R140C	.	R	+	1	0	EYA2	45159131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.295000	0.65692	2.677000	0.91161	0.655000	0.94253	CGT		0.423	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	Missense_Mutation	12	695	0	0	0	1	0	12	695				
DIAPH2	1730	broad.mit.edu	37	X	96603171	96603171	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:96603171C>T	ENST00000324765.8	+	24	3248	c.2901C>T	c.(2899-2901)aaC>aaT	p.N967N	DIAPH2_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000373049.4_Silent_p.N967N|DIAPH2_ENST00000355827.4_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	967	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGCACAACAACATGATGAAGC	0.388																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(2899-2901)aaC>aaT		diaphanous-related formin 2							115.0	94.0	101.0					X																	96603171		2203	4300	6503	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96603171C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2901C>T	X.37:g.96603171C>T						DIAPH2_ENST00000373049.4_Silent_p.N967N|DIAPH2_ENST00000355827.4_Silent_p.N967N|DIAPH2_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N	p.N967N			O60879	DIAP2_HUMAN			24	3248	+			967			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.2901C>T	CCDS14467.1																																																																																				0.388	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		6	273	0	0	0	1	0	6	273				
POC1A	25886	broad.mit.edu	37	3	52156463	52156463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52156463C>T	ENST00000296484.2	-	9	952	c.913G>A	c.(913-915)Gtt>Att	p.V305I	POC1A_ENST00000394970.2_Missense_Mutation_p.V305I|POC1A_ENST00000474012.1_Missense_Mutation_p.V267I	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	305					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CCATGATCAACAATATCAAAG	0.517																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(913-915)Gtt>Att		POC1 centriolar protein A							93.0	87.0	89.0					3																	52156463		2203	4300	6503	SO:0001583	missense	25886					centriole|microtubule basal body		g.chr3:52156463C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.913G>A	3.37:g.52156463C>T	ENSP00000296484:p.Val305Ile					POC1A_ENST00000296484.2_Missense_Mutation_p.V305I|POC1A_ENST00000474012.1_Missense_Mutation_p.V267I	p.V305I	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			9	1230	-			305					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	37	c.913G>A	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	4.967	0.179576	0.09443	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.58797	0.32;0.31;0.5	4.64	0.836	0.18891	WD40-repeat-containing domain (1);	1.093350	0.06840	N	0.795476	T	0.41305	0.1153	N	0.20807	0.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.25950	-1.0117	10	0.32370	T	0.25	.	8.4839	0.33061	0.0:0.6345:0.0:0.3655	.	305;305	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	I	305;305;267	ENSP00000296484:V305I;ENSP00000378421:V305I;ENSP00000418968:V267I	ENSP00000296484:V305I	V	-	1	0	POC1A	52131503	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.017000	0.12590	0.045000	0.15804	-1.814000	0.00607	GTT		0.517	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		18	251	0	0	0	1	0	18	251				
PLOD3	8985	broad.mit.edu	37	7	100859508	100859508	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100859508G>A	ENST00000223127.3	-	4	836	c.438C>T	c.(436-438)ccC>ccT	p.P146P	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	146					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCCCCACTCGGGCCAGCAGA	0.637																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(436-438)ccC>ccT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						23.0	25.0	25.0					7																	100859508		2203	4300	6503	SO:0001819	synonymous_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859508G>A	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.438C>T	7.37:g.100859508G>A							p.P146P	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			4	836	-	Lung NSC(181;0.168)|all_lung(186;0.215)		146					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.438C>T	CCDS5715.1																																																																																				0.637	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			63	224	0	0	0	1	0	63	224				
FRYL	285527	broad.mit.edu	37	4	48501642	48501642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48501642G>A	ENST00000503238.1	-	61	8838	c.8839C>T	c.(8839-8841)Ctg>Ttg	p.L2947L	FRYL_ENST00000358350.4_Silent_p.L2947L|FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000507873.2_Silent_p.L337L|FRYL_ENST00000537810.1_Silent_p.L2947L			O94915	FRYL_HUMAN	FRY-like	2947					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATATGTAACAGTGTCTGTACA	0.423																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8839-8841)Ctg>Ttg		FRY-like							124.0	117.0	119.0					4																	48501642		1868	4112	5980	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48501642G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8839C>T	4.37:g.48501642G>A						FRYL_ENST00000507873.2_Silent_p.L337L|FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000503238.1_Silent_p.L2947L|FRYL_ENST00000537810.1_Silent_p.L2947L	p.L2947L	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			64	9443	-			2947					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.8839C>T	CCDS43227.1																																																																																				0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			97	349	0	0	0	1	0	97	349				
KCNJ16	3773	broad.mit.edu	37	17	68128301	68128301	+	Missense_Mutation	SNP	A	A	G	rs199635549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128301A>G	ENST00000589377.1	+	2	236	c.73A>G	c.(73-75)Att>Gtt	p.I25V	KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000585558.1_Missense_Mutation_p.I60V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	25					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCCAGAGCACATTATAGCTGA	0.453													A|||	2	0.000399361	0.0	0.0	5008	,	,		19982	0.002		0.0	False		,,,				2504	0.0					ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(178-180)Att>Gtt		potassium inwardly-rectifying channel, subfamily J, member 16							131.0	123.0	125.0					17																	68128301		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128301A>G	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.73A>G	17.37:g.68128301A>G	ENSP00000465967:p.Ile25Val					KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000589377.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V	p.I60V			Q9NPI9	IRK16_HUMAN			4	566	+	Breast(10;2.96e-09)		25						Missense_Mutation	SNP	ENST00000589377.1	37	c.178A>G	CCDS11687.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	1.321	-0.599456	0.03744	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.88124	-2.34;-2.34;-2.34	5.99	-8.19	0.01049	.	1.981030	0.01750	N	0.029873	T	0.70815	0.3267	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62793	-0.6779	9	.	.	.	.	9.4275	0.38590	0.2183:0.0992:0.5854:0.0971	.	25;25	A8K434;Q9NPI9	.;IRK16_HUMAN	V	25	ENSP00000283936:I25V;ENSP00000376439:I25V;ENSP00000376438:I25V	.	I	+	1	0	KCNJ16	65639896	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.346000	0.07760	-1.825000	0.01207	-0.248000	0.11899	ATT		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		114	387	0	0	0	1	0	114	387				
UBE4B	10277	broad.mit.edu	37	1	10239537	10239537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10239537G>A	ENST00000253251.8	+	26	4216	c.3377G>A	c.(3376-3378)cGc>cAc	p.R1126H	UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H|UBE4B_ENST00000377157.3_Missense_Mutation_p.R1014H					ubiquitination factor E4B									p.R1126H(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCATGGACCGCTCCATCATC	0.597																																						ENST00000377157.3																			1	Substitution - Missense(1)	p.R1126H(1)	large_intestine(1)	NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3040-3042)cGc>cAc		ubiquitination factor E4B							80.0	82.0	81.0					1																	10239537		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10239537G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3377G>A	1.37:g.10239537G>A	ENSP00000253251:p.Arg1126His					UBE4B_ENST00000253251.8_Missense_Mutation_p.R1126H|UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H	p.R1014H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	26	4102	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1255						Missense_Mutation	SNP	ENST00000253251.8	37	c.3041G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	37	6.084238	0.97267	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.71222	-0.55;-0.45;-0.5	5.78	5.78	0.91487	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.94035	0.7304	10	0.87932	D	0	-18.2393	19.9987	0.97401	0.0:0.0:1.0:0.0	.	1255;1126	O95155;O95155-2	UBE4B_HUMAN;.	H	1126;1014;1255	ENSP00000253251:R1126H;ENSP00000366362:R1014H;ENSP00000343001:R1255H	ENSP00000253251:R1126H	R	+	2	0	UBE4B	10162124	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.819000	0.99357	2.738000	0.93877	0.591000	0.81541	CGC		0.597	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		66	521	0	0	0	1	0	66	521				
TPH1	7166	broad.mit.edu	37	11	18057690	18057690	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18057690C>A	ENST00000250018.2	-	2	680		c.e2-1		TPH1_ENST00000341556.2_Splice_Site	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1						aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CATGCTTCTCCTGTGTAAAGC	0.353																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.e2-1		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						88.0	83.0	85.0					11																	18057690		2200	4293	6493	SO:0001630	splice_region_variant	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18057690C>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.118-1G>T	11.37:g.18057690C>A						TPH1_ENST00000341556.2_Splice_Site		NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			2	680	-								D3DQX6|O95188|O95189|Q16736|Q3KPG8	Splice_Site	SNP	ENST00000250018.2	37		CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234470	0.79800	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3742	0.94502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPH1	18014266	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.741000	0.84997	2.650000	0.89964	0.655000	0.94253	.		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179	Intron	22	100	1	0	7.41877e-09	1	7.77385e-09	22	100				
DGCR6	8214	broad.mit.edu	37	22	18898402	18898402	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898402C>T	ENST00000331444.6	+	4	526	c.374C>T	c.(373-375)gCg>gTg	p.A125V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	125					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CCACGGCAGGCGGTGGAGCAC	0.657																																						ENST00000331444.6																			0				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						c.e4-1		DiGeorge syndrome critical region gene 6							30.0	29.0	30.0					22																	18898402		2202	4299	6501	SO:0001630	splice_region_variant	8214				cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix		g.chr22:18898402C>T	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.373-1C>T	22.37:g.18898402C>T						DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	p.A125_splice	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN			4	526	+			125					B2RCH5|D3DX15|G5E9J8|Q9BY28	Splice_Site	SNP	ENST00000331444.6	37	c.372_splice	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870249	0.51588	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.32988	1.43	4.84	4.84	0.62591	.	0.324157	0.31976	N	0.006774	T	0.33498	0.0865	M	0.67953	2.075	0.46437	D	0.999046	B	0.24368	0.102	B	0.14578	0.011	T	0.11446	-1.0587	10	0.38643	T	0.18	-11.6622	15.7939	0.78394	0.0:1.0:0.0:0.0	.	125	Q14129	DGCR6_HUMAN	V	125;45	ENSP00000331681:A125V	ENSP00000331681:A125V	A	+	2	0	DGCR6	17278402	0.995000	0.38212	0.929000	0.37066	0.011000	0.07611	3.266000	0.51569	2.421000	0.82119	0.430000	0.28490	GCG		0.657	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675	Missense_Mutation	35	163	0	0	0	1	0	35	163				
C1D	10438	broad.mit.edu	37	2	68274319	68274319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68274319C>T	ENST00000355848.3	-	2	171	c.124G>A	c.(124-126)Gag>Aag	p.E42K	C1D_ENST00000470189.2_5'Flank|C1D_ENST00000407324.1_Missense_Mutation_p.E81K|C1D_ENST00000410067.3_Missense_Mutation_p.E42K|C1D_ENST00000409302.1_Missense_Mutation_p.E42K			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	42	Required for transcriptional repression. {ECO:0000250}.				apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)			lung(2)|urinary_tract(1)	3						TGCAACAACTCATTTCTAGAA	0.328																																						ENST00000355848.3																			0				lung(2)|urinary_tract(1)	3						c.(124-126)Gag>Aag		C1D nuclear receptor corepressor							53.0	52.0	52.0					2																	68274319		2203	4299	6502	SO:0001583	missense	10438				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding	g.chr2:68274319C>T		CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"""small unique nuclear receptor co-repressor"""	606997	"""C1D nuclear receptor co-repressor"""			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.124G>A	2.37:g.68274319C>T	ENSP00000348107:p.Glu42Lys					C1D_ENST00000409302.1_Missense_Mutation_p.E42K|C1D_ENST00000410067.3_Missense_Mutation_p.E42K|C1D_ENST00000407324.1_Missense_Mutation_p.E81K	p.E42K			Q13901	C1D_HUMAN			2	171	-			42			Required for transcriptional repression (By similarity).		A8K336|D6W5F8|Q05D64	Missense_Mutation	SNP	ENST00000355848.3	37	c.124G>A	CCDS1883.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066926	0.93898	.	.	ENSG00000197223	ENST00000355848;ENST00000407324;ENST00000410067;ENST00000409302	T;T;T;T	0.52754	0.68;0.65;0.68;0.68	5.29	5.29	0.74685	.	0.091917	0.85682	D	0.000000	T	0.59059	0.2166	M	0.80982	2.52	0.80722	D	1	P	0.43938	0.822	P	0.45276	0.475	T	0.61496	-0.7051	10	0.37606	T	0.19	-21.2335	19.2911	0.94100	0.0:1.0:0.0:0.0	.	42	Q13901	C1D_HUMAN	K	42;81;42;42	ENSP00000348107:E42K;ENSP00000384304:E81K;ENSP00000386468:E42K;ENSP00000386779:E42K	ENSP00000348107:E42K	E	-	1	0	C1D	68127823	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.129000	0.64739	2.651000	0.90000	0.491000	0.48974	GAG		0.328	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	NM_006333		41	263	0	0	0	1	0	41	263				
LAMB3	3914	broad.mit.edu	37	1	209796389	209796389	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209796389C>A	ENST00000356082.4	-	17	2628	c.2494G>T	c.(2494-2496)Gcg>Tcg	p.A832S	LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S|LAMB3_ENST00000391911.1_Missense_Mutation_p.A832S|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	832	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCTGCCCCGCCATCAAGAAG	0.652																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2494-2496)Gcg>Tcg		laminin, beta 3							59.0	71.0	67.0					1																	209796389		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209796389C>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2494G>T	1.37:g.209796389C>A	ENSP00000348384:p.Ala832Ser					LAMB3_ENST00000356082.4_Missense_Mutation_p.A832S|LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S	p.A832S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	16	2883	-			832			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.2494G>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303492	0.40795	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.49139	0.79;0.79;0.79	5.21	4.28	0.50868	.	0.115379	0.64402	D	0.000019	T	0.57417	0.2052	M	0.77616	2.38	0.21841	N	0.999519	D	0.58620	0.983	P	0.53313	0.723	T	0.54139	-0.8338	10	0.52906	T	0.07	.	8.3981	0.32570	0.1556:0.7661:0.0:0.0783	.	832	Q13751	LAMB3_HUMAN	S	832	ENSP00000375778:A832S;ENSP00000348384:A832S;ENSP00000355997:A832S	ENSP00000348384:A832S	A	-	1	0	LAMB3	207863012	0.973000	0.33851	0.045000	0.18777	0.218000	0.24690	2.419000	0.44671	1.193000	0.43086	0.456000	0.33151	GCG		0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		76	787	1	0	1.50424e-25	1	1.72683e-25	76	787				
DISP2	85455	broad.mit.edu	37	15	40659920	40659920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40659920G>A	ENST00000267889.3	+	8	1694	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	536	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTGGCCTTCCGCATGGCCTAC	0.617																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(1606-1608)cGc>cAc		dispatched homolog 2 (Drosophila)							87.0	76.0	80.0					15																	40659920		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40659920G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1607G>A	15.37:g.40659920G>A	ENSP00000267889:p.Arg536His						p.R536H	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	1694	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	536			SSD.		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.1607G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158351	0.38119	.	.	ENSG00000140323	ENST00000267889	D	0.95447	-3.71	5.58	5.58	0.84498	Sterol-sensing domain (1);	0.105275	0.64402	D	0.000007	D	0.93032	0.7782	L	0.45137	1.4	0.47905	D	0.999545	P	0.46656	0.882	B	0.39503	0.301	D	0.92354	0.5892	10	0.34782	T	0.22	-28.3214	19.5634	0.95382	0.0:0.0:1.0:0.0	.	536	A7MBM2	DISP2_HUMAN	H	536	ENSP00000267889:R536H	ENSP00000267889:R536H	R	+	2	0	DISP2	38447212	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.979000	0.56888	2.625000	0.88918	0.561000	0.74099	CGC		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		60	275	0	0	0	1	0	60	275				
G3BP1	10146	broad.mit.edu	37	5	151166218	151166218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151166218C>T	ENST00000394123.3	+	2	182	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	13	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GCTGGTCGGGCGGGAATTTGT	0.468																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(37-39)Cgg>Tgg		GTPase activating protein (SH3 domain) binding protein 1							141.0	137.0	138.0					5																	151166218		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151166218C>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.37C>T	5.37:g.151166218C>T	ENSP00000377681:p.Arg13Trp					G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W	p.R13W			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	182	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	13			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.37C>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374603	0.82573	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	T;T	0.71103	-0.54;-0.54	5.05	3.25	0.37280	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.45352	1.415	0.80722	D	1	D;B	0.89917	1.0;0.151	D;B	0.69824	0.966;0.02	T	0.76323	-0.3001	10	0.72032	D	0.01	-12.1306	11.0913	0.48117	0.0:0.8489:0.0:0.1511	.	13;13	E5RJU8;Q13283	.;G3BP1_HUMAN	W	13	ENSP00000377681:R13W;ENSP00000348578:R13W	ENSP00000274596:R13W	R	+	1	2	G3BP1	151146411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.519000	0.60517	0.641000	0.30601	0.491000	0.48974	CGG		0.468	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		53	562	0	0	0	1	0	53	562				
RDH10	157506	broad.mit.edu	37	8	74209428	74209428	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74209428G>A	ENST00000240285.5	+	2	967		c.e2-1		RPL7_ENST00000396466.1_5'Flank|RPL7_ENST00000396465.1_5'Flank|RDH10_ENST00000519380.1_De_novo_Start_OutOfFrame|RP11-434I12.2_ENST00000520894.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)						bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCTGAGGACAGCTGGGAATGG	0.478																																						ENST00000519380.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11								retinol dehydrogenase 10 (all-trans)							73.0	64.0	67.0					8																	74209428		2203	4300	6503	SO:0001630	splice_region_variant	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74209428G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.290-1G>A	8.37:g.74209428G>A						RDH10_ENST00000240285.5_Splice_Site				Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		0	178	+	Breast(64;0.0954)								Translation_Start_Site	SNP	ENST00000240285.5	37		CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638496	0.67130	.	.	ENSG00000121039	ENST00000240285	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9535	0.92649	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RDH10	74371982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.337000	0.72958	2.780000	0.95670	0.655000	0.94253	.		0.478	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1		Intron	33	129	0	0	0	1	0	33	129				
EDNRB	1910	broad.mit.edu	37	13	78492556	78492556	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78492556C>A	ENST00000334286.5	-	1	389	c.153G>T	c.(151-153)aaG>aaT	p.K51N	EDNRB_ENST00000377211.4_Missense_Mutation_p.K141N|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	51					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCCATAAGGTCTTAGTGGGTG	0.632																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(421-423)aaG>aaT		endothelin receptor type B	Bosentan(DB00559)						72.0	76.0	74.0					13																	78492556		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492556C>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.153G>T	13.37:g.78492556C>A	ENSP00000335311:p.Lys51Asn					EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N|EDNRB_ENST00000334286.5_Missense_Mutation_p.K51N|EDNRB_ENST00000475537.1_5'UTR	p.K141N	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	2	575	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	51					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.423G>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195525	0.22037	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.54675	0.56;0.56;0.56	4.04	2.3	0.28687	.	0.927486	0.09275	N	0.824652	T	0.38295	0.1035	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26708	0.157;0.003;0.023	B;B;B	0.24155	0.051;0.003;0.01	T	0.25293	-1.0136	10	0.35671	T	0.21	-2.4878	5.9342	0.19156	0.0:0.7641:0.0:0.2359	.	51;141;51	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	N	141;51;51	ENSP00000366416:K141N;ENSP00000403401:K51N;ENSP00000335311:K51N	ENSP00000335311:K51N	K	-	3	2	EDNRB	77390557	0.000000	0.05858	0.066000	0.19879	0.430000	0.31655	0.369000	0.20416	1.053000	0.40415	-0.194000	0.12790	AAG		0.632	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			46	250	1	0	7.77372e-23	1	8.81276e-23	46	250				
MB21D2	151963	broad.mit.edu	37	3	192516274	192516274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192516274C>T	ENST00000392452.2	-	2	1697	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	459							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TCACTAGCTGCTGCAGTTTTT	0.512																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(1375-1377)caG>caA		Mab-21 domain containing 2							109.0	114.0	112.0					3																	192516274		2203	4300	6503	SO:0001819	synonymous_variant	151963							g.chr3:192516274C>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1377G>A	3.37:g.192516274C>T							p.Q459Q	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	1697	-			459					Q86VD8	Silent	SNP	ENST00000392452.2	37	c.1377G>A	CCDS3302.2																																																																																				0.512	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		22	768	0	0	0	1	0	22	768				
ARF1	375	broad.mit.edu	37	1	228285130	228285130	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228285130G>A	ENST00000541182.1	+	3	498	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Missense_Mutation_p.R79H	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCCCTGTGGCGCCACTACTTC	0.602																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(235-237)cGc>cAc		ADP-ribosylation factor 1							71.0	71.0	71.0					1																	228285130		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285130G>A	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.236G>A	1.37:g.228285130G>A	ENSP00000440005:p.Arg79His					ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|ARF1_ENST00000540651.1_Missense_Mutation_p.R79H|ARF1_ENST00000478424.1_3'UTR	p.R79H	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			3	498	+		Prostate(94;0.0405)	79					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.236G>A	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999806	0.54147	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.66638	-0.22;-0.22;-0.22	5.39	3.49	0.39957	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	T	0.70360	0.3215	M	0.89601	3.045	0.80722	D	1	B	0.29162	0.235	B	0.23716	0.048	T	0.75772	-0.3200	10	0.87932	D	0	-13.7481	12.3362	0.55069	0.1392:0.0:0.8608:0.0	.	79	P84077	ARF1_HUMAN	H	79	ENSP00000272102:R79H;ENSP00000442980:R79H;ENSP00000440005:R79H	ENSP00000272102:R79H	R	+	2	0	ARF1	226351753	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.575000	0.98187	1.521000	0.48983	-0.373000	0.07131	CGC		0.602	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		48	493	0	0	0	1	0	48	493				
PLXNA4	91584	broad.mit.edu	37	7	132174152	132174152	+	Missense_Mutation	SNP	C	C	T	rs142997259	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132174152C>T	ENST00000359827.3	-	3	2232	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I			Q9HCM2	PLXA4_HUMAN	plexin A4	424	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCGTGAAGACGGGAATTCCA	0.502													C|||	6	0.00119808	0.0008	0.0	5008	,	,		20967	0.001		0.004	False		,,,				2504	0.0					ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1270-1272)Gtc>Atc		plexin A4		C	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	112.0	92.0	99.0		1270,1270,1270	4.3	0.9	7	dbSNP_134	99	19,8581	14.0+/-48.4	0,19,4281	yes	missense,missense,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	29,29,29	0,21,6482	TT,TC,CC		0.2209,0.0454,0.1615	benign,benign,benign	424/493,424/1895,424/523	132174152	21,12985	2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132174152C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1270G>A	7.37:g.132174152C>T	ENSP00000352882:p.Val424Ile					PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I	p.V424I			Q9HCM2	PLXA4_HUMAN			3	2232	-			424			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1270G>A	CCDS43646.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	9.939	1.217033	0.22373	4.54E-4	0.002209	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.22	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.236540	0.26574	U	0.023617	T	0.06508	0.0167	L	0.45698	1.435	0.40578	D	0.98136	B;B;B	0.15473	0.006;0.013;0.003	B;B;B	0.15870	0.003;0.014;0.002	T	0.12967	-1.0527	10	0.27785	T	0.31	.	7.7108	0.28677	0.0:0.8352:0.0:0.1648	.	424;424;424	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	I	424	ENSP00000323194:V424I;ENSP00000352882:V424I;ENSP00000392772:V424I;ENSP00000367800:V424I	ENSP00000323194:V424I	V	-	1	0	PLXNA4	131824692	0.997000	0.39634	0.949000	0.38748	0.046000	0.14306	2.770000	0.47662	2.712000	0.92718	0.650000	0.86243	GTC		0.502	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		43	172	0	0	0	1	0	43	172				
MITF	4286	broad.mit.edu	37	3	69928347	69928347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69928347G>A	ENST00000448226.2	+	2	294	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000314589.5_Missense_Mutation_p.R40H|MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000352241.4_Missense_Mutation_p.R56H|MITF_ENST00000328528.6_Missense_Mutation_p.R55H			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	56					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGACATCACGCATCTTGCTA	0.557			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(166-168)cGc>cAc		microphthalmia-associated transcription factor							46.0	53.0	51.0					3																	69928347		2090	4230	6320	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69928347G>A		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.167G>A	3.37:g.69928347G>A	ENSP00000391803:p.Arg56His					MITF_ENST00000328528.6_Missense_Mutation_p.R55H|MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000314589.5_Missense_Mutation_p.R40H|MITF_ENST00000448226.2_Missense_Mutation_p.R56H	p.R56H	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	2	330	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	56					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.167G>A		.	.	.	.	.	.	.	.	.	.	G	24.8	4.571489	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T;T	0.63255	1.27;0.82;0.29;-0.03;0.12;0.59;1.41;0.32	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.98;0.997;0.997;0.997;0.991	T	0.81824	-0.0755	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	4;31;40;55;56	E9PFN0;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.	H	56;56;4;4;4;55;55;40;40;31	ENSP00000295600:R56H;ENSP00000391803:R56H;ENSP00000418845:R4H;ENSP00000391276:R55H;ENSP00000327867:R55H;ENSP00000398639:R40H;ENSP00000324443:R40H;ENSP00000377884:R31H	.	R	+	2	0	MITF	70011037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.814000	0.96858	0.650000	0.86243	CGC		0.557	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		62	238	0	0	0	1	0	62	238				
CCNA2	890	broad.mit.edu	37	4	122743779	122743779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743779G>T	ENST00000274026.5	-	2	539	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	79					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATCATTTACAGGAAGATCCTT	0.413																																						ENST00000274026.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(235-237)cCt>cAt		cyclin A2							92.0	90.0	90.0					4																	122743779		2203	4300	6503	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122743779G>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.236C>A	4.37:g.122743779G>T	ENSP00000274026:p.Pro79His						p.P79H	NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN			2	539	-			79					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.236C>A	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048425	0.55110	.	.	ENSG00000145386	ENST00000274026	T	0.15256	2.44	5.74	3.97	0.46021	.	.	.	.	.	T	0.16342	0.0393	L	0.47716	1.5	0.25614	N	0.986468	B	0.22800	0.075	B	0.21151	0.033	T	0.13737	-1.0498	9	0.59425	D	0.04	.	8.5659	0.33538	0.0798:0.2876:0.6326:0.0	.	79	P20248	CCNA2_HUMAN	H	79	ENSP00000274026:P79H	ENSP00000274026:P79H	P	-	2	0	CCNA2	122963229	0.862000	0.29867	0.990000	0.47175	0.996000	0.88848	1.584000	0.36589	1.392000	0.46585	0.655000	0.94253	CCT		0.413	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		87	394	1	0	3.05217e-42	1	3.71447e-42	87	394				
OR2W5	441932	broad.mit.edu	37	1	247655213	247655213	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247655213G>A	ENST00000522351.1	+	0	844							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTACCTGAAGCCGGCCAACA	0.517																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															130.0	114.0	119.0					1																	247655213		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655213G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655213G>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	844	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.517	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		196	537	0	0	0	1	0	196	537				
FKRP	79147	broad.mit.edu	37	19	47259280	47259280	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47259280C>T	ENST00000318584.5	+	4	870	c.573C>T	c.(571-573)tgC>tgT	p.C191C	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.C191C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	191					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGCCCCGCTGCGACGCCCTGG	0.741																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(571-573)tgC>tgT		fukutin related protein							4.0	5.0	5.0					19																	47259280		1924	3799	5723	SO:0001819	synonymous_variant	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259280C>T	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.573C>T	19.37:g.47259280C>T						FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.C191C	p.C191C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	870	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	191					A8K5G7	Silent	SNP	ENST00000318584.5	37	c.573C>T	CCDS12691.1																																																																																				0.741	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		13	41	0	0	0	1	0	13	41				
EBPL	84650	broad.mit.edu	37	13	50237284	50237284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50237284T>C	ENST00000242827.6	-	3	339	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000378284.2_Missense_Mutation_p.T97A|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Intron	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	97					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GACACAATGGTTGGATCAAAA	0.403																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000378284.2																			0				endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(289-291)Acc>Gcc		emopamil binding protein-like							140.0	122.0	128.0					13																	50237284		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50237284T>C	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.289A>G	13.37:g.50237284T>C	ENSP00000242827:p.Thr97Ala					EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000378272.5_Intron|EBPL_ENST00000242827.6_Missense_Mutation_p.T97A|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000495963.2_5'UTR	p.T97A	NM_001278636.1	NP_001265565.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	3	327	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	97					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.289A>G	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929148	0.52759	.	.	ENSG00000123179	ENST00000378284;ENST00000242827;ENST00000378282	D;D	0.97906	-4.6;-4.6	5.9	4.64	0.57946	.	0.231295	0.41938	N	0.000799	D	0.97084	0.9047	L	0.56280	1.765	0.80722	D	1	D	0.63046	0.992	P	0.59056	0.851	D	0.94759	0.7934	10	0.16896	T	0.51	-7.7929	9.3337	0.38038	0.0:0.1056:0.0:0.8944	.	97	Q9BY08	EBPL_HUMAN	A	91;97;91	ENSP00000242827:T97A;ENSP00000367531:T91A	ENSP00000242827:T97A	T	-	1	0	EBPL	49135285	0.999000	0.42202	0.025000	0.17156	0.902000	0.53008	3.147000	0.50639	0.941000	0.37499	0.454000	0.30748	ACC		0.403	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		110	355	0	0	0	1	0	110	355				
TCEB1	6921	broad.mit.edu	37	8	74859046	74859046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74859046G>A	ENST00000522337.1	-	5	477	c.158C>T	c.(157-159)gCt>gTt	p.A53V	TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V|TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Missense_Mutation_p.A53V			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	53					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TTCGTTCTCAGCAAACTGACC	0.373																																						ENST00000518127.1																			0				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7						c.(157-159)gCt>gTt		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							66.0	56.0	59.0					8																	74859046		2203	4300	6503	SO:0001583	missense	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74859046G>A	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.158C>T	8.37:g.74859046G>A	ENSP00000429906:p.Ala53Val					TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000522337.1_Missense_Mutation_p.A53V|TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V	p.A53V	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	250	-	Breast(64;0.0311)		53					E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	c.158C>T	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094949	0.56075	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.14	5.14	0.70334	BTB/POZ fold (2);SKP1 component, POZ (1);	0.137510	0.31188	N	0.008081	T	0.44953	0.1318	L	0.53671	1.685	0.80722	D	1	B	0.15473	0.013	B	0.24848	0.056	T	0.38436	-0.9661	10	0.54805	T	0.06	-3.8739	18.7873	0.91960	0.0:0.0:1.0:0.0	.	53	Q15369	ELOC_HUMAN	V	53;37;53;53;53;53;53;53	ENSP00000428334:A53V;ENSP00000430224:A37V;ENSP00000428171:A53V;ENSP00000429596:A53V;ENSP00000284811:A53V;ENSP00000429906:A53V;ENSP00000428074:A53V;ENSP00000429789:A53V	ENSP00000284811:A53V	A	-	2	0	TCEB1	75021600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.769000	0.91742	2.669000	0.90835	0.591000	0.81541	GCT		0.373	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		26	167	0	0	0	1	0	26	167				
UBR3	130507	broad.mit.edu	37	2	170917646	170917646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170917646C>T	ENST00000272793.5	+	34	4893	c.4843C>T	c.(4843-4845)Cta>Tta	p.L1615L	UBR3_ENST00000392631.1_Silent_p.L436L|UBR3_ENST00000418381.1_Silent_p.L1615L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1615					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GATAAGTGAACTATTTAAAGG	0.313																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(4843-4845)Cta>Tta		ubiquitin protein ligase E3 component n-recognin 3 (putative)							79.0	84.0	83.0					2																	170917646		2203	4298	6501	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170917646C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4843C>T	2.37:g.170917646C>T						UBR3_ENST00000392631.1_Silent_p.L436L|UBR3_ENST00000418381.1_Silent_p.L1615L	p.L1615L			Q6ZT12	UBR3_HUMAN			34	4893	+			1615					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.4843C>T																																																																																					0.313	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		49	355	0	0	0	1	0	49	355				
PASK	23178	broad.mit.edu	37	2	242080137	242080137	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242080137T>C	ENST00000405260.1	-	3	926	c.228A>G	c.(226-228)tcA>tcG	p.S76S	PASK_ENST00000234040.4_Silent_p.S76S|PASK_ENST00000403638.3_Silent_p.S76S|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Silent_p.S76S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	76					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGCAGCCAGTGATGATAGAC	0.542																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(226-228)tcA>tcG		PAS domain containing serine/threonine kinase							65.0	66.0	65.0					2																	242080137		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242080137T>C	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.228A>G	2.37:g.242080137T>C						PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Silent_p.S76S|PASK_ENST00000405260.1_Silent_p.S76S|PASK_ENST00000234040.4_Silent_p.S76S|PASK_ENST00000539818.1_Intron	p.S76S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	3	319	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	76					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.228A>G	CCDS2545.1																																																																																				0.542	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		58	243	0	0	0	1	0	58	243				
RBFOX1	54715	broad.mit.edu	37	16	7629903	7629903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:7629903A>G	ENST00000550418.1	+	6	1383	c.395A>G	c.(394-396)gAc>gGc	p.D132G	RBFOX1_ENST00000547338.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000340209.4_Missense_Mutation_p.D137G|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D152G|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D175G|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D152G|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D152G|RBFOX1_ENST00000547372.1_Missense_Mutation_p.D175G|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D167G	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	132	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGGATCCGGACCTCAGACAA	0.527																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(409-411)gAc>gGc		RNA binding protein, fox-1 homolog (C. elegans) 1							86.0	80.0	82.0					16																	7629903		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629903A>G	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.395A>G	16.37:g.7629903A>G	ENSP00000450031:p.Asp132Gly					RBFOX1_ENST00000547372.1_Missense_Mutation_p.D175G|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D152G|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D175G|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D152G|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D152G|RBFOX1_ENST00000550418.1_Missense_Mutation_p.D132G|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D167G|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D132G	p.D137G			Q9NWB1	RFOX1_HUMAN			3	707	+			132			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.410A>G	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.045154	0.93685	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.42131	2.15;2.15;2.15;2.15;2.15;0.98;2.15;2.15;2.15;2.15;2.15;2.15	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.64404	1.975	0.80722	D	1	P;D;D;D;D;P;D;D	0.89917	0.72;0.991;0.999;0.994;0.999;0.923;1.0;0.999	P;D;D;D;D;P;D;D	0.87578	0.779;0.989;0.998;0.98;0.994;0.852;0.997;0.996	T	0.65804	-0.6079	10	0.72032	D	0.01	-19.4393	15.4421	0.75190	1.0:0.0:0.0:0.0	.	152;175;152;152;152;132;132;175	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	G	131;132;132;175;175;167;132;132;152;152;152;152;137	ENSP00000450402:D131G;ENSP00000450031:D132G;ENSP00000447753:D132G;ENSP00000446842:D175G;ENSP00000391269:D175G;ENSP00000448496:D167G;ENSP00000447281:D132G;ENSP00000447717:D132G;ENSP00000402745:D152G;ENSP00000309117:D152G;ENSP00000347855:D152G;ENSP00000344196:D137G	ENSP00000309117:D152G	D	+	2	0	RBFOX1	7569904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.930000	0.92872	2.054000	0.61138	0.533000	0.62120	GAC		0.527	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		62	257	0	0	0	1	0	62	257				
MUT	4594	broad.mit.edu	37	6	49426795	49426795	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49426795C>A	ENST00000274813.3	-	2	512	c.385G>T	c.(385-387)Gct>Tct	p.A129S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	129					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAATCTCACCCTTAATGTTG	0.348																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	GRCh37	CD065768	MUT	D		c.e2+1		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63.0	64.0	64.0					6																	49426795		2203	4300	6503	SO:0001630	splice_region_variant	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49426795C>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.385+1G>T	6.37:g.49426795C>A							p.A129_splice	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			2	512	-	Lung NSC(77;0.0376)		129					A8K953|Q5SYZ3|Q96B11|Q9UD64	Splice_Site	SNP	ENST00000274813.3	37	c.385_splice	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721302	0.68959	.	.	ENSG00000146085	ENST00000274813	D	0.98207	-4.79	5.73	4.85	0.62838	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.85859	2.78	0.80722	D	1	P	0.39782	0.688	P	0.57679	0.825	D	0.99053	1.0828	9	.	.	.	-11.523	15.3823	0.74669	0.1403:0.8597:0.0:0.0	.	129	P22033	MUTA_HUMAN	S	129	ENSP00000274813:A129S	.	A	-	1	0	MUT	49534754	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.445000	0.80570	1.509000	0.48786	0.655000	0.94253	GCT		0.348	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1		Missense_Mutation	27	200	1	0	9.86323e-18	1	1.09066e-17	27	200				
STRADA	92335	broad.mit.edu	37	17	61781939	61781939	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781939G>A	ENST00000336174.6	-	11	974	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.L230L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000447001.3_Silent_p.L244L|STRADA_ENST00000582137.1_Silent_p.L259L|STRADA_ENST00000579340.1_Silent_p.C172C|STRADA_ENST00000392950.4_Silent_p.L251L	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCTCTAGCAGCATCTGGGGA	0.612																																						ENST00000392950.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(751-753)Ctg>Ttg		STE20-related kinase adaptor alpha							39.0	41.0	40.0					17																	61781939		2203	4299	6502	SO:0001819	synonymous_variant	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61781939G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.862C>T	17.37:g.61781939G>A						STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.L230L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000447001.3_Silent_p.L244L|STRADA_ENST00000336174.6_Silent_p.L288L|STRADA_ENST00000582137.1_Silent_p.L259L|STRADA_ENST00000579340.1_Silent_p.C172C	p.L251L	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN			9	1024	-			288			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	c.751C>T	CCDS32703.1																																																																																				0.612	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			57	244	0	0	0	1	0	57	244				
C2CD3	26005	broad.mit.edu	37	11	73850003	73850003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73850003G>T	ENST00000334126.7	-	5	943	c.717C>A	c.(715-717)gaC>gaA	p.D239E	C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E|C2CD3_ENST00000313663.7_Missense_Mutation_p.D239E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	239					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGCATACATGGTCTTTTCCCC	0.363																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(715-717)gaC>gaA		C2 calcium-dependent domain containing 3							63.0	61.0	62.0					11																	73850003		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73850003G>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.717C>A	11.37:g.73850003G>T	ENSP00000334379:p.Asp239Glu					C2CD3_ENST00000313663.7_Missense_Mutation_p.D239E|C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E	p.D239E			Q4AC94	C2CD3_HUMAN			5	943	-	Breast(11;4.16e-06)		239					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.717C>A		.	.	.	.	.	.	.	.	.	.	G	14.06	2.422539	0.43020	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.11169	2.8;2.86	5.84	4.93	0.64822	.	0.054285	0.64402	D	0.000001	T	0.30947	0.0781	M	0.76002	2.32	0.31437	N	0.67244	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.17715	-1.0360	10	0.59425	D	0.04	-14.0972	11.5079	0.50476	0.0835:0.0:0.9165:0.0	.	239;239	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	E	239	ENSP00000334379:D239E;ENSP00000323339:D239E	ENSP00000289350:D239E	D	-	3	2	C2CD3	73527651	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	2.400000	0.44504	2.771000	0.95319	0.655000	0.94253	GAC		0.363	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		35	166	1	0	9.80977e-26	1	1.12711e-25	35	166				
ZNF524	147807	broad.mit.edu	37	19	56113511	56113511	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56113511G>A	ENST00000591046.1	+	1	267	c.33G>A	c.(31-33)tcG>tcA	p.S11S	FIZ1_ENST00000221665.3_5'Flank|ZNF524_ENST00000301073.3_Silent_p.S11S|FIZ1_ENST00000592585.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S11S(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGTTGCCTTCGCCTTTGCCCG	0.652																																						ENST00000591046.1																			1	Substitution - coding silent(1)	p.S11S(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(6)|prostate(1)	10						c.(31-33)tcG>tcA		zinc finger protein 524							41.0	45.0	43.0					19																	56113511		2203	4300	6503	SO:0001819	synonymous_variant	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56113511G>A	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.33G>A	19.37:g.56113511G>A						ZNF524_ENST00000301073.3_Silent_p.S11S	p.S11S			Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	267	+			11					Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	c.33G>A	CCDS12929.1																																																																																				0.652	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		98	370	0	0	0	1	0	98	370				
NAALADL2	254827	broad.mit.edu	37	3	175165072	175165072	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:175165072C>A	ENST00000454872.1	+	6	1274	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	382						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGCAGCCCATCTCTGCACCCC	0.388																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1144-1146)atC>atA		N-acetylated alpha-linked acidic dipeptidase-like 2							76.0	71.0	73.0					3																	175165072		1877	4124	6001	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175165072C>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1146C>A	3.37:g.175165072C>A						NAALADL2_ENST00000473253.1_3'UTR	p.I382I	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	6	1274	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	382					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1146C>A	CCDS46960.1																																																																																				0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		9	51	1	0	0.00829132	1	0.00834067	9	51				
TMEM151A	256472	broad.mit.edu	37	11	66062461	66062461	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66062461C>A	ENST00000327259.4	+	2	888	c.744C>A	c.(742-744)ggC>ggA	p.G248G		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	248						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CCAACGAGGGCCTGGACGACT	0.687																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(742-744)ggC>ggA		transmembrane protein 151A							14.0	11.0	12.0					11																	66062461		2139	4144	6283	SO:0001819	synonymous_variant	256472					integral to membrane		g.chr11:66062461C>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.744C>A	11.37:g.66062461C>A							p.G248G	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	888	+			248					Q8ND14	Silent	SNP	ENST00000327259.4	37	c.744C>A	CCDS8133.1																																																																																				0.687	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		19	61	1	0	3.32936e-07	1	3.45006e-07	19	61				
DYNC1H1	1778	broad.mit.edu	37	14	102493846	102493846	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493846C>A	ENST00000360184.4	+	46	9177	c.9013C>A	c.(9013-9015)Ctg>Atg	p.L3005M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3005	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCTGGATTCCTGGAGCGAAT	0.433																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(9013-9015)Ctg>Atg		dynein, cytoplasmic 1, heavy chain 1							123.0	117.0	119.0					14																	102493846		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102493846C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9013C>A	14.37:g.102493846C>A	ENSP00000348965:p.Leu3005Met						p.L3005M	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			46	9177	+			3005			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9013C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566117	0.65651	.	.	ENSG00000197102	ENST00000360184	T	0.58358	0.34	5.71	2.65	0.31530	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.073611	0.56097	D	0.000040	T	0.80048	0.4552	H	0.98295	4.195	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	T	0.81595	-0.0861	10	0.87932	D	0	.	8.3586	0.32346	0.0:0.5972:0.0:0.4028	.	3005	Q14204	DYHC1_HUMAN	M	3005	ENSP00000348965:L3005M	ENSP00000348965:L3005M	L	+	1	2	DYNC1H1	101563599	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.192000	0.32150	0.641000	0.30601	-0.192000	0.12808	CTG		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		103	512	1	0	3.68091e-61	1	4.63301e-61	103	512				
IGHMBP2	3508	broad.mit.edu	37	11	68703961	68703961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68703961G>A	ENST00000255078.3	+	13	2124	c.2013G>A	c.(2011-2013)acG>acA	p.T671T		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	671	SS DNA-binding. {ECO:0000250}.		T -> A (in dbSNP:rs622082).		ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACCTGCTACGTCCACCAGGA	0.622																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2011-2013)acG>acA		immunoglobulin mu binding protein 2							35.0	40.0	38.0					11																	68703961		2200	4293	6493	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68703961G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2013G>A	11.37:g.68703961G>A							p.T671T	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	2124	+			671		T -> A (in dbSNP:rs622082).			A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.2013G>A	CCDS8187.1																																																																																				0.622	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		101	294	0	0	0	1	0	101	294				
COL7A1	1294	broad.mit.edu	37	3	48611968	48611968	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48611968T>C	ENST00000328333.8	-	78	6516	c.6409A>G	c.(6409-6411)Aaa>Gaa	p.K2137E	COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2137	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGTCTCCTTTGATGCCTGGC	0.622																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(6409-6411)Aaa>Gaa		collagen, type VII, alpha 1							61.0	53.0	56.0					3																	48611968		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48611968T>C	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6409A>G	3.37:g.48611968T>C	ENSP00000332371:p.Lys2137Glu					COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	p.K2137E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	78	6516	-			2137			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6409A>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991386	0.35131	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94280	-3.39;-3.39	4.71	4.71	0.59529	.	0.000000	0.42172	D	0.000743	D	0.95258	0.8462	M	0.79258	2.445	0.29570	N	0.849991	D	0.64830	0.994	D	0.64506	0.926	D	0.90654	0.4585	10	0.10111	T	0.7	.	13.4488	0.61158	0.0:0.0:0.0:1.0	.	2137	Q02388	CO7A1_HUMAN	E	2137;2105	ENSP00000332371:K2137E;ENSP00000412569:K2105E	ENSP00000332371:K2137E	K	-	1	0	COL7A1	48586972	0.983000	0.35010	1.000000	0.80357	0.136000	0.21042	2.066000	0.41452	2.099000	0.63709	0.460000	0.39030	AAA		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		47	174	0	0	0	1	0	47	174				
SIRPG	55423	broad.mit.edu	37	20	1615981	1615981	+	Missense_Mutation	SNP	G	G	A	rs41275434	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1615981G>A	ENST00000303415.3	-	4	1077	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	SIRPG_ENST00000381580.1_Missense_Mutation_p.A305V|SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381583.2_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	338	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTGCTGACCGCCAGCTGCCC	0.507													a|||	2	0.000399361	0.0008	0.0	5008	,	,		17425	0.0		0.001	False		,,,				2504	0.0					ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(913-915)gCg>gTg		signal-regulatory protein gamma		A	,VAL/ALA,	0,4406		0,0,2203	119.0	96.0	104.0		,1013,	-0.7	0.0	20	dbSNP_127	104	8,8592		0,8,4292	yes	intron,missense,intron	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	,64,	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	,benign,	,338/388,	1615981	8,12998	2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1615981G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1013C>T	20.37:g.1615981G>A	ENSP00000305529:p.Ala338Val					RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.A338V	p.A305V			Q9P1W8	SIRPG_HUMAN			4	1093	-			338			Ig-like C1-type 2.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.914C>T	CCDS13020.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	6.004	0.369084	0.11352	0.0	9.3E-4	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.12255	3.11;2.7	1.6	-0.664	0.11406	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.736109	0.12511	N	0.462442	T	0.09069	0.0224	M	0.65677	2.01	0.09310	N	1	P	0.50943	0.94	B	0.31442	0.13	T	0.26467	-1.0102	10	0.42905	T	0.14	.	2.2338	0.04003	0.1987:0.0:0.5027:0.2987	rs41275434	338	Q9P1W8	SIRPG_HUMAN	V	305;338	ENSP00000370992:A305V;ENSP00000305529:A338V	ENSP00000305529:A338V	A	-	2	0	SIRPG	1563981	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	0.175000	0.16762	-0.163000	0.10946	-1.051000	0.02340	GCG		0.507	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		77	333	0	0	0	1	0	77	333				
NFKB1	4790	broad.mit.edu	37	4	103534584	103534584	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103534584C>A	ENST00000505458.1	+	23	2869	c.2592C>A	c.(2590-2592)gtC>gtA	p.V864V	NFKB1_ENST00000394820.4_Silent_p.V864V|NFKB1_ENST00000226574.4_Silent_p.V865V|NFKB1_ENST00000600343.1_Silent_p.V684V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	864	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTCACAGGTCTCTGGGGGTA	0.557																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2593-2595)gtC>gtA		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						54.0	51.0	52.0					4																	103534584		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103534584C>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2592C>A	4.37:g.103534584C>A						NFKB1_ENST00000505458.1_Silent_p.V864V|NFKB1_ENST00000394820.4_Silent_p.V864V|NFKB1_ENST00000600343.1_Silent_p.V684V	p.V865V	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	23	3062	+		Hepatocellular(203;0.217)	864			Death.|Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.2595C>A	CCDS54783.1																																																																																				0.557	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			46	274	1	0	2.29192e-23	1	2.60423e-23	46	274				
CDK5R1	8851	broad.mit.edu	37	17	30815096	30815096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30815096G>A	ENST00000313401.3	+	2	1147	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	153					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GAGCTGCTTCGCTGCCTGGGT	0.677																																						ENST00000313401.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(457-459)cGc>cAc		cyclin-dependent kinase 5, regulatory subunit 1 (p35)							44.0	45.0	45.0					17																	30815096		2203	4300	6503	SO:0001583	missense	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30815096G>A	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.458G>A	17.37:g.30815096G>A	ENSP00000318486:p.Arg153His						p.R153H	NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	1147	+		Breast(31;0.159)|Ovarian(249;0.182)	153					E1P664|Q5U0G3	Missense_Mutation	SNP	ENST00000313401.3	37	c.458G>A	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817185	0.90790	.	.	ENSG00000176749	ENST00000313401	T	0.80738	-1.41	5.55	5.55	0.83447	Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	P	0.58970	0.849	D	0.89174	0.3539	10	0.87932	D	0	-21.4374	16.9953	0.86366	0.0:0.0:1.0:0.0	.	153	Q15078	CD5R1_HUMAN	H	153	ENSP00000318486:R153H	ENSP00000318486:R153H	R	+	2	0	CDK5R1	27839209	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.556000	0.73932	2.609000	0.88269	0.557000	0.71058	CGC		0.677	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		84	288	0	0	0	1	0	84	288				
SOAT2	8435	broad.mit.edu	37	12	53497948	53497948	+	Silent	SNP	G	G	A	rs377417504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53497948G>A	ENST00000301466.3	+	2	156	c.96G>A	c.(94-96)acG>acA	p.T32T		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	32					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACACTGAGACGCACAGAGCCC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17017	0.001		0.0	False		,,,				2504	0.0					ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(94-96)acG>acA		sterol O-acyltransferase 2		G		1,4405	2.1+/-5.4	0,1,2202	106.0	97.0	100.0		96	-7.6	0.0	12		100	0,8600		0,0,4300	no	coding-synonymous	SOAT2	NM_003578.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		32/523	53497948	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53497948G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.96G>A	12.37:g.53497948G>A							p.T32T	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			2	156	+			32					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.96G>A	CCDS8847.1																																																																																				0.547	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			64	335	0	0	0	1	0	64	335				
GUCY1B3	2983	broad.mit.edu	37	4	156717528	156717528	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156717528G>T	ENST00000264424.8	+	8	925		c.e8-1		GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCCTTTTCAAGGAAGGATTGT	0.428																																						ENST00000264424.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e8-1		guanylate cyclase 1, soluble, beta 3							187.0	180.0	182.0					4																	156717528		1980	4152	6132	SO:0001630	splice_region_variant	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156717528G>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.844-1G>T	4.37:g.156717528G>T						GUCY1B3_ENST00000505154.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site		NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	8	925	+	all_hematologic(180;0.24)	Renal(120;0.0854)						B7Z426|Q86WY5	Splice_Site	SNP	ENST00000264424.8	37		CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105229	0.56291	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2459	0.93902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUCY1B3	156936978	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.308000	0.96247	2.551000	0.86045	0.655000	0.94253	.		0.428	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		Intron	49	281	1	0	1.86277e-20	1	2.08787e-20	49	281				
SIRPG	55423	broad.mit.edu	37	20	1629742	1629742	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1629742T>C	ENST00000303415.3	-	2	450	c.386A>G	c.(385-387)aAc>aGc	p.N129S	SIRPG_ENST00000381580.1_Missense_Mutation_p.N96S|SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	129	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AAACTCCACGTTCTCAGGGCT	0.483																																						ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(286-288)aAc>aGc		signal-regulatory protein gamma							223.0	195.0	204.0					20																	1629742		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629742T>C	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.386A>G	20.37:g.1629742T>C	ENSP00000305529:p.Asn129Ser					SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S|SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S|SIRPG_ENST00000303415.3_Missense_Mutation_p.N129S	p.N96S			Q9P1W8	SIRPG_HUMAN			2	466	-			129			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.287A>G	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	12.39	1.924031	0.34002	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.187422	0.37437	N	0.002092	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19583	0.03;0.032;0.037	B;B;B	0.16722	0.009;0.006;0.016	T	0.49360	-0.8948	10	0.09843	T	0.71	.	5.8652	0.18771	0.0:0.0:0.0:1.0	.	129;129;129	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	S	96;129;129;129;129	ENSP00000370992:N96S;ENSP00000342759:N129S;ENSP00000305529:N129S;ENSP00000370995:N129S;ENSP00000216927:N129S	ENSP00000216927:N129S	N	-	2	0	SIRPG	1577742	0.005000	0.15991	0.009000	0.14445	0.664000	0.39144	1.424000	0.34848	1.143000	0.42306	0.164000	0.16699	AAC		0.483	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		22	549	0	0	0	1	0	22	549				
C1QTNF4	114900	broad.mit.edu	37	11	47611561	47611561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47611561C>T	ENST00000302514.3	-	2	1318	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	268	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CTCTGCATCTCGCGGCGCCGC	0.677																																						ENST00000302514.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(802-804)Gag>Aag		C1q and tumor necrosis factor related protein 4							52.0	62.0	59.0					11																	47611561		2200	4296	6496	SO:0001583	missense	114900					extracellular region		g.chr11:47611561C>T	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.802G>A	11.37:g.47611561C>T	ENSP00000302274:p.Glu268Lys						p.E268K	NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN			2	1318	-			268			C1q 2.		Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	37	c.802G>A	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966121	0.92855	.	.	ENSG00000172247	ENST00000302514	D	0.85955	-2.05	4.27	3.34	0.38264	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.069186	0.56097	U	0.000022	T	0.78805	0.4341	L	0.43598	1.365	0.49213	D	0.999766	P	0.47034	0.889	B	0.38712	0.28	T	0.77308	-0.2636	10	0.38643	T	0.18	.	14.2981	0.66329	0.0:0.85:0.15:0.0	.	268	Q9BXJ3	C1QT4_HUMAN	K	268	ENSP00000302274:E268K	ENSP00000302274:E268K	E	-	1	0	C1QTNF4	47568137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.836000	0.69375	0.878000	0.35920	0.462000	0.41574	GAG		0.677	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		19	207	0	0	0	1	0	19	207				
C6	729	broad.mit.edu	37	5	41149377	41149377	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149377G>T	ENST00000263413.3	-	17	2853	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	C6_ENST00000337836.5_Silent_p.G863G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	863	C5b-binding domain.|Factor I module (FIM) 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTGTCATAGCCACAGGATT	0.428																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2587-2589)ggC>ggA		complement component 6							241.0	231.0	235.0					5																	41149377		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149377G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2589C>A	5.37:g.41149377G>T						C6_ENST00000337836.5_Silent_p.G863G	p.G863G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			17	2853	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	863			C5b-binding domain.|Complement control factor I module 2.			Silent	SNP	ENST00000263413.3	37	c.2589C>A	CCDS3936.1																																																																																				0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			202	1053	1	0	1.31757e-72	1	1.67621e-72	202	1053				
PTPN7	5778	broad.mit.edu	37	1	202128652	202128652	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202128652G>T	ENST00000308986.5	-	2	79				PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000367279.4_De_novo_Start_OutOfFrame|PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000543735.1_Intron			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCCATGCCAGGCCAGGTTTG	0.582																																						ENST00000367279.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13								protein tyrosine phosphatase, non-receptor type 7							37.0	38.0	37.0					1																	202128652		2203	4300	6503	SO:0001627	intron_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202128652G>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.52-70C>A	1.37:g.202128652G>T						PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Intron		NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN			0	467	-								B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Translation_Start_Site	SNP	ENST00000308986.5	37																																																																																						0.582	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		85	228	1	0	2.26394e-26	1	2.60799e-26	85	228				
RGS9BP	388531	broad.mit.edu	37	19	33167833	33167833	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33167833C>T	ENST00000334176.3	+	1	1521	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	222					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CGCCGTGCTGCTGGCGGCTGT	0.721																																						ENST00000334176.3																			0				central_nervous_system(1)|lung(2)	3						c.(664-666)Ctg>Ttg		regulator of G protein signaling 9 binding protein							7.0	10.0	9.0					19																	33167833		1756	3593	5349	SO:0001819	synonymous_variant	388531				negative regulation of signal transduction	integral to membrane		g.chr19:33167833C>T	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.664C>T	19.37:g.33167833C>T							p.L222L	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN			1	1521	+	Esophageal squamous(110;0.137)		222					Q6ZVJ6	Silent	SNP	ENST00000334176.3	37	c.664C>T	CCDS12424.1																																																																																				0.721	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		22	105	0	0	0	1	0	22	105				
TRIM46	80128	broad.mit.edu	37	1	155148076	155148076	+	Missense_Mutation	SNP	G	G	A	rs373079383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155148076G>A	ENST00000334634.4	+	2	278	c.278G>A	c.(277-279)cGc>cAc	p.R93H	TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H|KRTCAP2_ENST00000490672.1_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000392451.2_Missense_Mutation_p.R93H|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	93						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCTCTCCCGCAGAACTCTC	0.657																																						ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(277-279)cGc>cAc		tripartite motif containing 46		G	HIS/ARG	0,4354		0,0,2177	33.0	39.0	37.0		278	4.5	1.0	1		37	1,8505		0,1,4252	no	missense	TRIM46	NM_025058.3	29	0,1,6429	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	93/760	155148076	1,12859	2177	4253	6430	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155148076G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.278G>A	1.37:g.155148076G>A	ENSP00000334657:p.Arg93His					TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|TRIM46_ENST00000334634.4_Missense_Mutation_p.R93H|TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H	p.R93H			Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	361	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		93					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.278G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183414	0.78677	0.0	1.18E-4	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60548	0.75;0.49;0.68;0.43;0.18;0.23	4.54	4.54	0.55810	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.70275	2.135	0.80722	D	1	D;D;P;B;D;D	0.89917	0.999;1.0;0.946;0.403;1.0;1.0	D;D;B;B;D;D	0.85130	0.991;0.991;0.347;0.025;0.991;0.997	T	0.69308	-0.5179	10	0.44086	T	0.13	.	15.1629	0.72798	0.0:0.0:1.0:0.0	.	80;93;80;70;93;93	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	H	100;80;93;93;93;70;93	ENSP00000442719:R100H;ENSP00000357369:R93H;ENSP00000376245:R93H;ENSP00000357367:R93H;ENSP00000357366:R70H;ENSP00000334657:R93H	ENSP00000334657:R93H	R	+	2	0	TRIM46	153414700	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	5.694000	0.68272	2.227000	0.72691	0.655000	0.94253	CGC		0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		83	460	0	0	0	1	0	83	460				
SBSN	374897	broad.mit.edu	37	19	36018273	36018273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36018273G>A	ENST00000452271.2	-	1	939	c.911C>T	c.(910-912)gCg>gTg	p.A304V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	304	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCTGCCCCGCAGCATGGTG	0.652																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(910-912)gCg>gTg		suprabasin							29.0	36.0	34.0					19																	36018273		692	1591	2283	SO:0001583	missense	374897					extracellular region		g.chr19:36018273G>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.911C>T	19.37:g.36018273G>A	ENSP00000430242:p.Ala304Val					SBSN_ENST00000518157.1_Intron	p.A304V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	939	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		177					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.911C>T	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195340	0.09599	.	.	ENSG00000189001	ENST00000452271	T	0.40756	1.02	4.47	-8.94	0.00768	.	.	.	.	.	T	0.24084	0.0583	L	0.29908	0.895	0.09310	N	0.999999	B	0.14438	0.01	B	0.10450	0.005	T	0.22243	-1.0222	9	0.21540	T	0.41	.	10.4751	0.44659	0.2641:0.1889:0.547:0.0	.	304	E9PBV3	.	V	304	ENSP00000430242:A304V	ENSP00000430242:A304V	A	-	2	0	SBSN	40710113	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.346000	0.00503	-1.618000	0.01568	-0.672000	0.03802	GCG		0.652	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		8	97	0	0	0	1	0	8	97				
SENP2	59343	broad.mit.edu	37	3	185304209	185304209	+	Missense_Mutation	SNP	G	G	A	rs549095345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185304209G>A	ENST00000296257.5	+	1	248	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SENP2_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron|SENP2_ENST00000427465.2_De_novo_Start_InFrame	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	3					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTATGTACAGATGGCTGGTT	0.657																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(7-9)aGa>aAa		SUMO1/sentrin/SMT3 specific peptidase 2							102.0	104.0	103.0					3																	185304209		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185304209G>A	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.8G>A	3.37:g.185304209G>A	ENSP00000296257:p.Arg3Lys					SENP2_ENST00000427465.2_De_novo_Start_InFrame|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron	p.R3K	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		1	248	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		3					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.8G>A	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537215	0.45176	.	.	ENSG00000163904	ENST00000296257;ENST00000437107	T	0.21543	2.0	5.02	1.79	0.24919	.	0.147188	0.32068	N	0.006630	T	0.08802	0.0218	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	10	0.10377	T	0.69	-8.9996	5.2464	0.15498	0.487:0.0:0.513:0.0	.	3	Q9HC62	SENP2_HUMAN	K	3	ENSP00000296257:R3K	ENSP00000296257:R3K	R	+	2	0	SENP2	186786903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.523000	0.22925	0.550000	0.28991	0.655000	0.94253	AGA		0.657	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		189	780	0	0	0	1	0	189	780				
CROCCP2	84809	broad.mit.edu	37	1	16945653	16945653	+	lincRNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16945653G>A	ENST00000412962.1	-	0	1866				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTGGGGGCATGCTCAGGCTTC	0.607																																						ENST00000412962.1																			0																																																			0							g.chr1:16945653G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945653G>A														0	1866	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.607	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		98	1789	0	0	0	1	0	98	1789				
ACSM5	54988	broad.mit.edu	37	16	20448438	20448438	+	Missense_Mutation	SNP	G	G	A	rs141553052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20448438G>A	ENST00000331849.4	+	11	1520	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	458					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACCGAGCTCGCATGGACAAG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		21785	0.0		0.001	False		,,,				2504	0.0					ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1372-1374)cGc>cAc		acyl-CoA synthetase medium-chain family member 5		G	HIS/ARG	0,4406		0,0,2203	181.0	166.0	171.0		1373	-10.3	0.0	16	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSM5	NM_017888.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	458/580	20448438	1,13005	2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448438G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1373G>A	16.37:g.20448438G>A	ENSP00000327916:p.Arg458His						p.R458H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			11	1520	+			458					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1373G>A	CCDS10585.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	8.711	0.911994	0.17907	0.0	1.16E-4	ENSG00000183549	ENST00000331849	T	0.50548	0.74	5.15	-10.3	0.00346	AMP-dependent synthetase/ligase (1);	1.371240	0.04612	N	0.400456	T	0.24005	0.0581	N	0.25031	0.7	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06789	-1.0807	10	0.22706	T	0.39	-0.8747	3.6884	0.08336	0.19:0.0888:0.4284:0.2928	.	458	Q6NUN0	ACSM5_HUMAN	H	458	ENSP00000327916:R458H	ENSP00000327916:R458H	R	+	2	0	ACSM5	20355939	0.000000	0.05858	0.006000	0.13384	0.835000	0.47333	-0.596000	0.05720	-2.007000	0.00956	-0.781000	0.03364	CGC		0.478	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		61	638	0	0	0	1	0	61	638				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		36	373	0	0	0	1	0	36	373				
ABCA2	20	broad.mit.edu	37	9	139903232	139903232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903232C>T	ENST00000371605.3	-	46	7163	c.7016G>A	c.(7015-7017)gGc>gAc	p.G2339D	ABCA2_ENST00000265662.5_Missense_Mutation_p.G2340D|ABCA2_ENST00000341511.6_Missense_Mutation_p.G2340D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2339					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCAGCACGCCAGACACCTG	0.647																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(7018-7020)gGc>gAc		ATP-binding cassette, sub-family A (ABC1), member 2							36.0	42.0	40.0					9																	139903232		2173	4251	6424	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139903232C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.7016G>A	9.37:g.139903232C>T	ENSP00000360666:p.Gly2339Asp					ABCA2_ENST00000341511.6_Missense_Mutation_p.G2340D|ABCA2_ENST00000371605.3_Missense_Mutation_p.G2339D	p.G2340D			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	47	7166	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2339					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.7019G>A		.	.	.	.	.	.	.	.	.	.	C	5.457	0.269470	0.10349	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	3.89	2.88	0.33553	.	0.136424	0.47093	U	0.000249	T	0.41119	0.1145	N	0.01771	-0.73	0.37890	D	0.930681	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49652	-0.8917	10	0.02654	T	1	.	3.2538	0.06824	0.0:0.5802:0.0:0.4198	.	2339;2370	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	D	2340;2339;2370;2340;108;98	ENSP00000265662:G2340D;ENSP00000360666:G2339D;ENSP00000344155:G2340D;ENSP00000420360:G108D;ENSP00000406741:G98D	ENSP00000265662:G2340D	G	-	2	0	ABCA2	139023053	1.000000	0.71417	0.980000	0.43619	0.620000	0.37586	4.803000	0.62546	2.009000	0.58944	0.491000	0.48974	GGC		0.647	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		15	46	0	0	0	1	0	15	46				
NOD1	10392	broad.mit.edu	37	7	30491717	30491717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30491717C>A	ENST00000222823.4	-	6	1841	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACCAGGCTGCTGGGCTGCAT	0.652																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1315-1317)aGc>aTc		nucleotide-binding oligomerization domain containing 1							56.0	54.0	54.0					7																	30491717		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491717C>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1316G>T	7.37:g.30491717C>A	ENSP00000222823:p.Ser439Ile						p.S439I	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1841	-			439			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1316G>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383985	0.25031	.	.	ENSG00000106100	ENST00000222823	T	0.71934	-0.61	5.71	1.63	0.23807	NACHT nucleoside triphosphatase (1);	0.663946	0.17186	N	0.183688	T	0.52419	0.1733	N	0.14661	0.345	0.38005	D	0.934361	B	0.09022	0.002	B	0.04013	0.001	T	0.46952	-0.9154	10	0.41790	T	0.15	.	12.7173	0.57121	0.078:0.6397:0.2823:0.0	.	439	Q9Y239	NOD1_HUMAN	I	439	ENSP00000222823:S439I	ENSP00000222823:S439I	S	-	2	0	NOD1	30458242	0.998000	0.40836	0.956000	0.39512	0.962000	0.63368	2.780000	0.47742	0.308000	0.22923	0.563000	0.77884	AGC		0.652	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			40	400	1	0	1.67305e-13	1	1.80725e-13	40	400				
C20orf194	25943	broad.mit.edu	37	20	3245112	3245112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3245112G>A	ENST00000252032.9	-	31	2912	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	949										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TATCGAGATCGTAGCATCTCA	0.313																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2845-2847)Cga>Tga		chromosome 20 open reading frame 194							94.0	87.0	89.0					20																	3245112		1845	4094	5939	SO:0001587	stop_gained	25943							g.chr20:3245112G>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2845C>T	20.37:g.3245112G>A	ENSP00000252032:p.Arg949*					C20orf194_ENST00000453730.2_3'UTR	p.R949*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			31	2912	-			949					Q66K86|Q6P2R9|Q9UFX9	Nonsense_Mutation	SNP	ENST00000252032.9	37	c.2845C>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937150	0.98571	.	.	ENSG00000088854	ENST00000252032	.	.	.	5.14	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8059	0.46518	0.0:0.0:0.5873:0.4126	.	.	.	.	X	949	.	ENSP00000252032:R949X	R	-	1	2	C20orf194	3193112	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.333000	0.65917	2.548000	0.85928	0.650000	0.86243	CGA		0.313	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		41	174	0	0	0	1	0	41	174				
FMN1	342184	broad.mit.edu	37	15	33149272	33149272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33149272G>T	ENST00000559047.1	-	14	3871	c.3872C>A	c.(3871-3873)tCc>tAc	p.S1291Y	FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y|FMN1_ENST00000334528.9_Missense_Mutation_p.S1068Y			Q68DA7	FMN1_HUMAN	formin 1	1291	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCCTTTGGGGACTCCTTGCA	0.468																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(3202-3204)tCc>tAc		formin 1							132.0	132.0	132.0					15																	33149272		1955	4146	6101	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33149272G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3872C>A	15.37:g.33149272G>T	ENSP00000454047:p.Ser1291Tyr					FMN1_ENST00000559047.1_Missense_Mutation_p.S1291Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y	p.S1068Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	13	3202	-		all_lung(180;1.14e-07)	1291			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3203C>A		.	.	.	.	.	.	.	.	.	.	G	18.88	3.717737	0.68844	.	.	ENSG00000248905	ENST00000334528	T	0.66460	-0.21	4.82	4.82	0.62117	.	0.056948	0.64402	D	0.000001	D	0.83059	0.5172	M	0.85373	2.75	.	.	.	D	0.89917	1.0	D	0.87578	0.998	D	0.86841	0.2017	9	0.87932	D	0	.	15.2718	0.73708	0.0:0.0:1.0:0.0	.	1068	Q68DA7-5	.	Y	1068	ENSP00000333950:S1068Y	ENSP00000333950:S1068Y	S	-	2	0	FMN1	30936564	1.000000	0.71417	0.956000	0.39512	0.985000	0.73830	6.038000	0.70964	2.664000	0.90586	0.650000	0.86243	TCC		0.468	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		34	342	1	0	2.87052e-16	1	3.15093e-16	34	342				
MUC16	94025	broad.mit.edu	37	19	8995635	8995635	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8995635C>T	ENST00000397910.4	-	63	41556	c.41353G>A	c.(41353-41355)Gct>Act	p.A13785T	MUC16_ENST00000380951.5_Splice_Site_p.A426T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13787				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTACTTACCTGAAGGGCCA	0.438																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e63+1		mucin 16, cell surface associated							55.0	53.0	54.0					19																	8995635		1911	4126	6037	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8995635C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41353+1G>A	19.37:g.8995635C>T						MUC16_ENST00000380951.5_Splice_Site_p.A426_splice	p.A13785_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			63	41556	-			13787	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.41353_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322407	0.23994	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.37058	1.22;1.22	1.27	1.27	0.21489	.	.	.	.	.	T	0.34600	0.0903	N	0.16368	0.405	.	.	.	D;P	0.57571	0.98;0.954	P;D	0.66351	0.892;0.943	T	0.38351	-0.9665	7	.	.	.	.	5.9958	0.19493	0.0:1.0:0.0:0.0	.	21430;13785	Q8WXI7;B5ME49	MUC16_HUMAN;.	T	13785;426	ENSP00000381008:A13785T;ENSP00000370338:A426T	.	A	-	1	0	MUC16	8856635	0.138000	0.22547	0.012000	0.15200	0.019000	0.09904	0.967000	0.29344	1.038000	0.40049	0.436000	0.28706	GCT		0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	15	61	0	0	0	1	0	15	61				
DOCK10	55619	broad.mit.edu	37	2	225651780	225651780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651780G>A	ENST00000258390.7	-	50	5681	c.5614C>T	c.(5614-5616)Cgg>Tgg	p.R1872W	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1866W	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1872	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAAACAGCCGCTTCTCCGAA	0.433																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5596-5598)Cgg>Tgg		dedicator of cytokinesis 10							131.0	127.0	128.0					2																	225651780		1890	4117	6007	SO:0001583	missense	55619						GTP binding	g.chr2:225651780G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5614C>T	2.37:g.225651780G>A	ENSP00000258390:p.Arg1872Trp					DOCK10_ENST00000258390.7_Missense_Mutation_p.R1872W	p.R1866W			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	50	5709	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1872			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5596C>T	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.045660|4.045660	0.75846|0.75846	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000535663|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.33865	.|1.39;1.39	5.99|5.99	4.15|4.15	0.48705|0.48705	.|.	.|0.111909	.|0.56097	.|D	.|0.000022	T|T	0.68815|0.68815	0.3042|0.3042	M|M	0.93328|0.93328	3.405|3.405	0.47737|0.47737	D|D	0.999502|0.999502	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.999	T|T	0.77456|0.77456	-0.2581|-0.2581	5|10	.|0.87932	.|D	.|0	.|.	14.1883|14.1883	0.65620|0.65620	0.0:0.0:0.6072:0.3928|0.0:0.0:0.6072:0.3928	.|.	.|1872;693;1866;534	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	V|W	19|1866;1872;377	.|ENSP00000386694:R1866W;ENSP00000258390:R1872W	.|ENSP00000258390:R1872W	A|R	-|-	2|1	0|2	DOCK10|DOCK10	225360024|225360024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.115000|3.115000	0.50391|0.50391	0.822000|0.822000	0.34565|0.34565	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.433	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			152	429	0	0	0	1	0	152	429				
CTC1	80169	broad.mit.edu	37	17	8135057	8135057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8135057G>T	ENST00000315684.8	-	14	2469	c.2462C>A	c.(2461-2463)gCt>gAt	p.A821D		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	821					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGGCCAGGAGCTATGAGTCG	0.532																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(2461-2463)gCt>gAt		CTS telomere maintenance complex component 1							64.0	67.0	66.0					17																	8135057		1942	4144	6086	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8135057G>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2462C>A	17.37:g.8135057G>T	ENSP00000313759:p.Ala821Asp						p.A821D	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			14	2469	-			821					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.2462C>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	7.177	0.588796	0.13812	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.86562	-2.14;-2.14	5.8	2.37	0.29283	.	0.338447	0.29737	N	0.011339	D	0.84302	0.5442	M	0.64997	1.995	0.09310	N	1	P	0.48016	0.904	P	0.47573	0.55	T	0.76903	-0.2787	10	0.66056	D	0.02	-8.7372	3.0329	0.06112	0.098:0.1799:0.5351:0.187	.	821	Q2NKJ3	CTC1_HUMAN	D	821;786	ENSP00000313759:A821D;ENSP00000396018:A786D	ENSP00000313759:A821D	A	-	2	0	CTC1	8075782	0.201000	0.23410	0.885000	0.34714	0.461000	0.32589	0.687000	0.25407	1.451000	0.47736	0.655000	0.94253	GCT		0.532	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		62	355	1	0	3.00063e-23	1	3.40875e-23	62	355				
GUCY2C	2984	broad.mit.edu	37	12	14805932	14805932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14805932C>A	ENST00000261170.3	-	13	1623	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGTATCTCGTCTTTTGTCATC	0.473																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1486-1488)aGa>aTa		guanylate cyclase 2C (heat stable enterotoxin receptor)							322.0	253.0	277.0					12																	14805932		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14805932C>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1487G>T	12.37:g.14805932C>A	ENSP00000261170:p.Arg496Ile						p.R496I	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			13	1623	-			496			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1487G>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141560	0.77775	.	.	ENSG00000070019	ENST00000261170	D	0.81739	-1.53	5.18	4.29	0.51040	Protein kinase, catalytic domain (1);	0.130033	0.64402	D	0.000001	T	0.80613	0.4656	L	0.47716	1.5	0.58432	D	0.999999	P	0.49307	0.922	P	0.50896	0.653	T	0.79485	-0.1784	10	0.38643	T	0.18	.	13.4927	0.61405	0.0:0.9232:0.0:0.0768	.	496	P25092	GUC2C_HUMAN	I	496	ENSP00000261170:R496I	ENSP00000261170:R496I	R	-	2	0	GUCY2C	14697199	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.709000	0.54853	1.295000	0.44724	0.655000	0.94253	AGA		0.473	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			192	653	1	0	1.74343e-85	1	2.23448e-85	192	653				
SCAMP5	192683	broad.mit.edu	37	15	75309056	75309056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75309056G>A	ENST00000361900.6	+	5	466	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000568081.1_5'Flank|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000565923.1_3'UTR	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	87					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CTGCTCCTACGTCTGCTGGTT	0.587																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(259-261)Gtc>Atc		secretory carrier membrane protein 5							126.0	125.0	125.0					15																	75309056		2135	4236	6371	SO:0001583	missense	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75309056G>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.259G>A	15.37:g.75309056G>A	ENSP00000355387:p.Val87Ile					SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I	p.V87I	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			5	466	+			87					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	c.259G>A	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864774	0.91511	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.18502	2.21;2.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55103	1.725	0.80722	D	1	D;P	0.76494	0.999;0.956	D;P	0.76071	0.987;0.6	T	0.08932	-1.0698	10	0.52906	T	0.07	-7.7649	17.294	0.87164	0.0:0.0:1.0:0.0	.	87;87	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	I	87	ENSP00000355387:V87I;ENSP00000406547:V87I	ENSP00000355387:V87I	V	+	1	0	SCAMP5	73096109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.841000	0.86834	2.391000	0.81399	0.561000	0.74099	GTC		0.587	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		81	391	0	0	0	1	0	81	391				
GABPA	2551	broad.mit.edu	37	21	27107264	27107264	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27107264C>T	ENST00000354828.3	+	0	384				ATP5J_ENST00000400093.3_Intron|ATP5J_ENST00000400099.1_Intron|ATP5J_ENST00000400087.3_Intron|ATP5J_ENST00000457143.2_Start_Codon_SNP_p.M1I|ATP5J_ENST00000400094.1_5'Flank|ATP5J_ENST00000284971.3_5'UTR|GABPA_ENST00000400075.3_5'Flank|ATP5J_ENST00000400090.3_Intron	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa						cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CATCGCAATGCATTATGGGCC	0.647																																						ENST00000457143.2																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						c.(1-3)atG>atA		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6							15.0	20.0	19.0					21																	27107264		1968	4154	6122	SO:0001623	5_prime_UTR_variant	522				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr21:27107264C>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.-144C>T	21.37:g.27107264C>T						ATP5J_ENST00000400099.1_Intron|GABPA_ENST00000354828.3_5'UTR|ATP5J_ENST00000400090.3_Intron|ATP5J_ENST00000400087.3_Intron|ATP5J_ENST00000400093.3_Intron|ATP5J_ENST00000284971.3_5'UTR	p.M1I			P18859	ATP5J_HUMAN			1	80	-			0					Q12939	Translation_Start_Site	SNP	ENST00000354828.3	37	c.3G>A	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954929	0.53293	.	.	ENSG00000154723	ENST00000457143	.	.	.	4.71	3.82	0.43975	.	.	.	.	.	T	0.71126	0.3303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74447	-0.3662	5	0.87932	D;D	0;0	.	11.2098	0.48790	0.0:0.8155:0.1845:0.0	.	.	.	.	I	1	.	ENSP00000389649:M1I;ENSP00000389649:M1I	M	-	3	0	ATP5J	26029135	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	1.863000	0.39459	1.332000	0.45431	0.655000	0.94253	ATG		0.647	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		5	20	0	0	0	1	0	5	20				
ZMYND15	84225	broad.mit.edu	37	17	4643940	4643940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4643940G>T	ENST00000433935.1	+	2	154	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W|CXCL16_ENST00000293778.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	33					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGGAGCTGTAGGGACTAGCCT	0.582																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(97-99)Ggg>Tgg		zinc finger, MYND-type containing 15							77.0	74.0	75.0					17																	4643940		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4643940G>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.97G>T	17.37:g.4643940G>T	ENSP00000391742:p.Gly33Trp					ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W	p.G33W	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			2	154	+			33					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.97G>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274691	0.40194	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48201	0.86;0.82	5.28	3.27	0.37495	.	0.238103	0.29900	N	0.010903	T	0.46171	0.1379	N	0.24115	0.695	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.60117	0.863;0.869	T	0.26883	-1.0090	10	0.87932	D	0	-9.0032	7.5421	0.27744	0.0882:0.1649:0.7469:0.0	.	33;33	B4DXY5;Q9H091	.;ZMY15_HUMAN	W	33	ENSP00000391742:G33W;ENSP00000269289:G33W	ENSP00000269289:G33W	G	+	1	0	ZMYND15	4590689	0.992000	0.36948	0.003000	0.11579	0.785000	0.44390	2.762000	0.47597	0.788000	0.33755	0.655000	0.94253	GGG		0.582	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		12	224	1	0	0.00136819	1	0.0013818	12	224				
TESC	54997	broad.mit.edu	37	12	117484630	117484630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117484630C>T	ENST00000335209.7	-	5	549	c.363G>A	c.(361-363)atG>atA	p.M121I	TESC_ENST00000535198.1_5'UTR|TESC_ENST00000392545.4_Missense_Mutation_p.M174I|TESC_ENST00000541210.1_Missense_Mutation_p.M94I			Q96BS2	CHP3_HUMAN	tescalcin	121	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CCGAGTCGTACATGTGGAACA	0.592																																						ENST00000335209.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(361-363)atG>atA		tescalcin							44.0	38.0	40.0					12																	117484630		2197	4288	6485	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117484630C>T	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.363G>A	12.37:g.117484630C>T	ENSP00000334785:p.Met121Ile					TESC_ENST00000535198.1_5'UTR|TESC_ENST00000392545.4_Missense_Mutation_p.M174I|TESC_ENST00000541210.1_Missense_Mutation_p.M94I	p.M121I			Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	5	549	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		121			EF-hand.		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.363G>A	CCDS9183.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.492545|3.492545	0.64074|0.64074	.|.	.|.	ENSG00000088992|ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210|ENST00000549210	T;T;T|.	0.68025|.	-0.3;-0.3;-0.3|.	4.68|4.68	4.68|4.68	0.58851|0.58851	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.38733|0.38733	1.17|1.17	0.80722|0.80722	D|D	1|1	B|.	0.19817|.	0.039|.	B|.	0.28709|.	0.093|.	T|T	0.56013|0.56013	-0.8049|-0.8049	10|5	0.45353|.	T|.	0.12|.	-25.979|-25.979	17.3511|17.3511	0.87324|0.87324	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	121|.	Q96BS2|.	TESC_HUMAN|.	I|I	121;174;94|3	ENSP00000334785:M121I;ENSP00000376328:M174I;ENSP00000445689:M94I|.	ENSP00000334785:M121I|.	M|V	-|-	3|1	0|0	TESC|TESC	115969013|115969013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.485000|4.485000	0.60279|0.60279	2.434000|2.434000	0.82447|0.82447	0.555000|0.555000	0.69702|0.69702	ATG|GTA		0.592	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		7	26	0	0	0	1	0	7	26				
ADAMTS8	11095	broad.mit.edu	37	11	130288972	130288972	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130288972G>A	ENST00000257359.6	-	2	1642	c.936C>T	c.(934-936)gaC>gaT	p.D312D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	312	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGATGGCCGTGTCGTAGTGCT	0.637																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(934-936)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 8							94.0	104.0	101.0					11																	130288972		2087	4212	6299	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130288972G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.936C>T	11.37:g.130288972G>A							p.D312D	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1642	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	312			Peptidase M12B.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.936C>T	CCDS41732.1																																																																																				0.637	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		192	772	0	0	0	1	0	192	772				
ARMC3	219681	broad.mit.edu	37	10	23321797	23321797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23321797G>A	ENST00000298032.5	+	18	2338	c.2254G>A	c.(2254-2256)Gca>Aca	p.A752T	ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T|ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	752						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGGTATGTAGCAGAAAAAAT	0.318																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2254-2256)Gca>Aca		armadillo repeat containing 3							62.0	59.0	60.0					10																	23321797		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23321797G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2254G>A	10.37:g.23321797G>A	ENSP00000298032:p.Ala752Thr					ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T|ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T	p.A752T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			18	2338	+			752					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2254G>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671896	0.47781	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.49139	0.79;0.8;2.02	5.37	2.33	0.28932	.	0.645585	0.17454	N	0.173689	T	0.52901	0.1763	L	0.58101	1.795	0.40605	D	0.981613	D;D	0.55605	0.965;0.972	P;P	0.54100	0.487;0.742	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.7438	8.5412	0.33393	0.1382:0.0:0.7369:0.125	.	745;752	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	752;745;489	ENSP00000298032:A752T;ENSP00000386943:A745T;ENSP00000365711:A489T	ENSP00000298032:A752T	A	+	1	0	ARMC3	23361803	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	2.981000	0.49329	0.747000	0.32809	-0.266000	0.10368	GCA		0.318	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		27	136	0	0	0	1	0	27	136				
JARID2	3720	broad.mit.edu	37	6	15507618	15507618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15507618C>T	ENST00000341776.2	+	11	2946	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F	JARID2_ENST00000541660.1_Missense_Mutation_p.S863F|JARID2_ENST00000397311.3_Missense_Mutation_p.S729F|JARID2_ENST00000474854.1_3'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	901	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACACAGGGTCCATCCTGCGT	0.592																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(2701-2703)tCc>tTc		jumonji, AT rich interactive domain 2							159.0	132.0	142.0					6																	15507618		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15507618C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2702C>T	6.37:g.15507618C>T	ENSP00000341280:p.Ser901Phe					JARID2_ENST00000397311.3_Missense_Mutation_p.S729F|JARID2_ENST00000541660.1_Missense_Mutation_p.S863F|JARID2_ENST00000474854.1_3'UTR	p.S901F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			11	2946	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	901			JmjC.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2702C>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179542	0.94846	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.51574	0.7;0.7;0.7	5.36	5.36	0.76844	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.050416	0.85682	D	0.000000	T	0.69993	0.3173	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.76041	-0.3104	10	0.87932	D	0	-14.7525	19.0669	0.93114	0.0:1.0:0.0:0.0	.	863;901	F5H590;Q92833	.;JARD2_HUMAN	F	901;729;863	ENSP00000341280:S901F;ENSP00000380478:S729F;ENSP00000444623:S863F	ENSP00000341280:S901F	S	+	2	0	JARID2	15615597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.508000	0.84585	0.585000	0.79938	TCC		0.592	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		7	408	0	0	0	1	0	7	408				
MYO10	4651	broad.mit.edu	37	5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16694613C>T	ENST00000513610.1	-	27	4121	c.3667G>A	c.(3667-3669)Ggg>Agg	p.G1223R	MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000274203.9_Missense_Mutation_p.G580R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000505695.1_Missense_Mutation_p.G562R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.G1223R(5)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCCCCCCCCTTTTTTGTGG	0.557																																						ENST00000513610.1																			5	Substitution - Missense(5)	p.G1223R(5)	endometrium(4)|prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3667-3669)Ggg>Agg		myosin X							81.0	82.0	82.0					5																	16694613		1898	4107	6005	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694613C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3667G>A	5.37:g.16694613C>T	ENSP00000421280:p.Gly1223Arg					MYO10_ENST00000505695.1_Missense_Mutation_p.G562R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000274203.9_Missense_Mutation_p.G580R	p.G1223R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4121	-			1223			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3667G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626178	0.66901	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.04502	3.61;3.61;3.61;3.61;3.61	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.28433	0.0703	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.04752	-1.0929	9	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	102;864;1223	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	R	1223;562;580;562;580	ENSP00000421280:G1223R;ENSP00000425051:G562R;ENSP00000274203:G580R;ENSP00000421170:G562R;ENSP00000391106:G580R	ENSP00000274203:G580R	G	-	1	0	MYO10	16747613	1.000000	0.71417	0.355000	0.25773	0.060000	0.15804	7.818000	0.86416	2.575000	0.86900	0.655000	0.94253	GGG		0.557	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		86	473	0	0	0	1	0	86	473				
C19orf45	374877	broad.mit.edu	37	19	7569075	7569075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7569075G>A	ENST00000361664.2	+	3	787	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	216										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACAGTTCCAGGCCCTGCCAGG	0.602																																						ENST00000361664.2																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						c.(646-648)Gcc>Acc		chromosome 19 open reading frame 45							60.0	54.0	56.0					19																	7569075		2203	4300	6503	SO:0001583	missense	374877							g.chr19:7569075G>A	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.646G>A	19.37:g.7569075G>A	ENSP00000355241:p.Ala216Thr						p.A216T	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN			3	787	+			216					Q8N115	Missense_Mutation	SNP	ENST00000361664.2	37	c.646G>A	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	g	18.74	3.688119	0.68271	.	.	ENSG00000198723	ENST00000419849;ENST00000361664	T	0.21361	2.01	4.02	1.81	0.25067	.	0.357489	0.29260	N	0.012663	T	0.29190	0.0726	M	0.62723	1.935	0.27481	N	0.952574	D	0.59357	0.985	P	0.55087	0.768	T	0.07271	-1.0781	10	0.62326	D	0.03	-29.0344	4.9702	0.14111	0.0994:0.0:0.5207:0.3799	.	216	Q8NA69	CS045_HUMAN	T	216	ENSP00000355241:A216T	ENSP00000355241:A216T	A	+	1	0	C19orf45	7475075	0.998000	0.40836	0.876000	0.34364	0.991000	0.79684	2.288000	0.43514	0.628000	0.30357	0.536000	0.68110	GCC		0.602	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		33	145	0	0	0	1	0	33	145				
PIK3R6	146850	broad.mit.edu	37	17	8741937	8741937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8741937G>A	ENST00000311434.9	-	4	372	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	45					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCGGGATCTCGCTCGACCTTC	0.592																																						ENST00000311434.9																			0											c.(133-135)Cga>Tga		phosphoinositide-3-kinase, regulatory subunit 6							40.0	42.0	41.0					17																	8741937		1953	4116	6069	SO:0001587	stop_gained	146850				platelet activation	cytosol		g.chr17:8741937G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.133C>T	17.37:g.8741937G>A	ENSP00000475670:p.Arg45*					PIK3R6_ENST00000434064.2_5'UTR	p.R45*	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			4	372	-			45					Q658R3	Nonsense_Mutation	SNP	ENST00000311434.9	37	c.133C>T																																																																																					0.592	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		10	42	0	0	0	1	0	10	42				
FLI1	2313	broad.mit.edu	37	11	128680721	128680721	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128680721C>T	ENST00000527786.2	+	9	1686	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	FLI1_ENST00000525560.1_Silent_p.N206N|FLI1_ENST00000344954.6_Silent_p.N366N|FLI1_ENST00000281428.8_Silent_p.N333N|FLI1_ENST00000534087.2_Silent_p.N366N	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	399					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGAAGGTGAACTTTGTCCCTC	0.572			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1096-1098)aaC>aaT		Fli-1 proto-oncogene, ETS transcription factor							107.0	113.0	111.0					11																	128680721		2134	4226	6360	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680721C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1197C>T	11.37:g.128680721C>T						FLI1_ENST00000281428.8_Silent_p.N333N|FLI1_ENST00000534087.1_Silent_p.N366N|FLI1_ENST00000525560.1_Silent_p.N206N|FLI1_ENST00000429175.2_Silent_p.N399N	p.N366N			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1486	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	399					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.1098C>T	CCDS44768.1																																																																																				0.572	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		13	235	0	0	0	1	0	13	235				
VCPIP1	80124	broad.mit.edu	37	8	67578482	67578482	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67578482A>C	ENST00000310421.4	-	1	970	c.712T>G	c.(712-714)Tta>Gta	p.L238V	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	238	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCTCTCTTAAGGCATGCCAG	0.512																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(712-714)Tta>Gta		valosin containing protein (p97)/p47 complex interacting protein 1							84.0	80.0	81.0					8																	67578482		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578482A>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.712T>G	8.37:g.67578482A>C	ENSP00000309031:p.Leu238Val						p.L238V	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	970	-		Lung NSC(129;0.142)|all_lung(136;0.227)	238			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.712T>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022707	0.54683	.	.	ENSG00000175073	ENST00000310421	T	0.44881	0.91	6.16	-1.24	0.09435	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.81942	2.565	0.53005	D	0.999967	D	0.69078	0.997	D	0.79108	0.992	T	0.69011	-0.5258	10	0.87932	D	0	-6.8277	15.0651	0.71986	0.2283:0.0:0.7717:0.0	.	238	Q96JH7	VCIP1_HUMAN	V	238	ENSP00000309031:L238V	ENSP00000309031:L238V	L	-	1	2	VCPIP1	67741036	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.171000	0.50824	-0.196000	0.10366	0.528000	0.53228	TTA		0.512	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			70	274	0	0	0	1	0	70	274				
VPS36	51028	broad.mit.edu	37	13	53007820	53007820	+	Nonsense_Mutation	SNP	C	C	A	rs144817587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53007820C>A	ENST00000378060.4	-	6	532	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	169					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E169K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTGTCAGTTTCTTTTCTTTTT	0.343																																						ENST00000378060.4																			1	Substitution - Missense(1)	p.E169K(1)	skin(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(505-507)Gaa>Taa		vacuolar protein sorting 36 homolog (S. cerevisiae)							127.0	149.0	141.0					13																	53007820		2201	4299	6500	SO:0001587	stop_gained	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53007820C>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.505G>T	13.37:g.53007820C>A	ENSP00000367299:p.Glu169*						p.E169*	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	6	532	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	169					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	ENST00000378060.4	37	c.505G>T	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	36	5.669719	0.96754	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-1.1812	19.1901	0.93663	0.0:1.0:0.0:0.0	.	.	.	.	X	169	.	ENSP00000367299:E169X	E	-	1	0	VPS36	51905821	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.307000	0.78920	2.776000	0.95493	0.655000	0.94253	GAA		0.343	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			41	194	1	0	1.8453e-21	1	2.07902e-21	41	194				
KIAA1468	57614	broad.mit.edu	37	18	59899598	59899598	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59899598A>G	ENST00000398130.2	+	10	1790	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.M520V|KIAA1468_ENST00000592479.1_3'UTR	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	520										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AAAAAGCGTTATGTTAATGCT	0.393																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1558-1560)Atg>Gtg		KIAA1468							133.0	121.0	125.0					18																	59899598		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59899598A>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1558A>G	18.37:g.59899598A>G	ENSP00000381198:p.Met520Val					KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000398130.2_Missense_Mutation_p.M520V	p.M520V			Q9P260	K1468_HUMAN			10	1806	+		Colorectal(73;0.186)	520						Missense_Mutation	SNP	ENST00000398130.2	37	c.1558A>G	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	A	2.814	-0.246424	0.05867	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.67523	-0.27;-0.27	5.57	5.57	0.84162	Armadillo-like helical (1);	0.116238	0.85682	D	0.000000	T	0.37999	0.1024	N	0.01352	-0.895	0.58432	D	0.999994	B;B;B	0.17268	0.007;0.021;0.003	B;B;B	0.10450	0.005;0.005;0.004	T	0.39860	-0.9593	9	.	.	.	-17.632	16.0172	0.80450	1.0:0.0:0.0:0.0	.	520;520;164	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	520	ENSP00000381198:M520V;ENSP00000256858:M520V	.	M	+	1	0	KIAA1468	58050578	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	6.863000	0.75489	2.239000	0.73571	0.528000	0.53228	ATG		0.393	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		53	199	0	0	0	1	0	53	199				
NSFL1C	55968	broad.mit.edu	37	20	1426401	1426401	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1426401A>G	ENST00000216879.4	-	8	1727	c.860T>C	c.(859-861)aTc>aCc	p.I287T	NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	287						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GTCGATTAAGATGGAAGAGCT	0.532																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(859-861)aTc>aCc		NSFL1 (p97) cofactor (p47)							193.0	191.0	192.0					20																	1426401		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426401A>G	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.860T>C	20.37:g.1426401A>G	ENSP00000216879:p.Ile287Thr					NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T	p.I287T	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			8	1727	-			287					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.860T>C	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401691	0.62288	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.53	4.53	0.55603	.	0.285629	0.35262	N	0.003323	T	0.24198	0.0586	N	0.08118	0	0.54753	D	0.999981	B;B;B	0.31256	0.092;0.316;0.056	B;B;B	0.26969	0.032;0.075;0.021	T	0.16364	-1.0405	10	0.59425	D	0.04	-4.3721	14.3138	0.66434	1.0:0.0:0.0:0.0	.	256;176;287	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	T	256;289;287;176;289	ENSP00000338643:I256T;ENSP00000418529:I289T;ENSP00000216879:I287T;ENSP00000371074:I176T;ENSP00000202584:I289T	ENSP00000216879:I287T	I	-	2	0	NSFL1C	1374401	1.000000	0.71417	0.347000	0.25668	0.924000	0.55760	8.630000	0.90987	2.037000	0.60232	0.459000	0.35465	ATC		0.532	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		206	814	0	0	0	1	0	206	814				
THBS2	7058	broad.mit.edu	37	6	169625342	169625342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169625342C>T	ENST00000366787.3	-	18	2920	c.2671G>A	c.(2671-2673)Ggc>Agc	p.G891S	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	891					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		tcgccctggccgtctctgtca	0.582																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2671-2673)Ggc>Agc		thrombospondin 2							216.0	184.0	195.0					6																	169625342		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169625342C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2671G>A	6.37:g.169625342C>T	ENSP00000355751:p.Gly891Ser					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G891S	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	18	2920	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	891					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2671G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537232	0.65085	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98362	-4.89	4.99	4.99	0.66335	.	0.000000	0.41823	U	0.000803	D	0.99233	0.9733	M	0.93720	3.45	0.58432	D	0.999992	D	0.89917	1.0	D	0.72625	0.978	D	0.99187	1.0869	10	0.87932	D	0	-58.2595	18.2818	0.90101	0.0:1.0:0.0:0.0	.	891	P35442	TSP2_HUMAN	S	891;149	ENSP00000355751:G891S	ENSP00000355751:G891S	G	-	1	0	THBS2	169367267	1.000000	0.71417	0.954000	0.39281	0.033000	0.12548	6.944000	0.75940	2.297000	0.77311	0.579000	0.79373	GGC		0.582	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		21	117	0	0	0	1	0	21	117				
SPNS1	83985	broad.mit.edu	37	16	28995106	28995106	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995106G>A	ENST00000311008.11	+	11	1697		c.e11-1		SPNS1_ENST00000565975.1_Splice_Site|SPNS1_ENST00000323081.8_Splice_Site|SPNS1_ENST00000352260.7_Splice_Site|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000354453.4_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Splice_Site	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)						lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCTCCCTGCAGATCTCTGACC	0.632																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.e11-1		spinster homolog 1 (Drosophila)							53.0	58.0	56.0					16																	28995106		2196	4300	6496	SO:0001630	splice_region_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995106G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1321-1G>A	16.37:g.28995106G>A						SPNS1_ENST00000352260.7_Splice_Site|SPNS1_ENST00000565975.1_Splice_Site|SPNS1_ENST00000334536.8_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Splice_Site		NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			11	1697	+								B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Splice_Site	SNP	ENST00000311008.11	37		CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532887	0.64972	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6705	0.68939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPNS1	28902607	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.118000	0.71583	2.308000	0.77769	0.555000	0.69702	.		0.632	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038	Intron	99	506	0	0	0	1	0	99	506				
ASB10	136371	broad.mit.edu	37	7	150884173	150884173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150884173C>T	ENST00000420175.2	-	1	69	c.45G>A	c.(43-45)gaG>gaA	p.E15E	ASB10_ENST00000377867.3_Intron|ASB10_ENST00000275838.1_Silent_p.E15E|ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000422024.1_Silent_p.E60E			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	15					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCGAGGGGCTCTCCCTGCC	0.617																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(178-180)gaG>gaA		ankyrin repeat and SOCS box containing 10							31.0	25.0	27.0					7																	150884173		2202	4298	6500	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150884173C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.45G>A	7.37:g.150884173C>T						ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000420175.2_Silent_p.E15E|ASB10_ENST00000275838.1_Silent_p.E15E|ASB10_ENST00000377867.3_Intron	p.E60E	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	305	-			15					A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.180G>A	CCDS47750.2																																																																																				0.617	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		13	59	0	0	0	1	0	13	59				
PLBD2	196463	broad.mit.edu	37	12	113824778	113824778	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113824778G>A	ENST00000280800.3	+	10	1354	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	PLBD2_ENST00000545182.2_Silent_p.Q409Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	441					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGGCTGCAGGCCCTAGTGG	0.612																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1321-1323)caG>caA		phospholipase B domain containing 2							68.0	63.0	64.0					12																	113824778		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824778G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1323G>A	12.37:g.113824778G>A						PLBD2_ENST00000545182.2_Silent_p.Q409Q	p.Q441Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			10	1354	+			441					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1323G>A	CCDS9168.1																																																																																				0.612	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		21	450	0	0	0	1	0	21	450				
TRIM36	55521	broad.mit.edu	37	5	114515703	114515703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114515703C>T	ENST00000282369.3	-	1	153	c.32G>A	c.(31-33)gGc>gAc	p.G11D	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	11					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATGATGTAGCCAAATTCACT	0.557																																						ENST00000282369.3																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(31-33)gGc>gAc		tripartite motif containing 36							117.0	119.0	118.0					5																	114515703		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114515703C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.32G>A	5.37:g.114515703C>T	ENSP00000282369:p.Gly11Asp					TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D	p.G11D	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	1	153	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	11					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.32G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221520	0.58560	.	.	ENSG00000152503	ENST00000282369;ENST00000379618;ENST00000379617	T	0.54071	0.59	4.38	4.38	0.52667	.	0.224065	0.38492	N	0.001662	T	0.61489	0.2351	L	0.41824	1.3	0.25265	N	0.989568	D;D;P	0.71674	0.998;0.998;0.536	D;D;B	0.72075	0.976;0.943;0.114	T	0.53358	-0.8450	10	0.42905	T	0.14	.	12.7819	0.57483	0.0:1.0:0.0:0.0	.	11;11;11	A6NDD0;Q0P5Z9;Q9NQ86	.;.;TRI36_HUMAN	D	11	ENSP00000282369:G11D	ENSP00000282369:G11D	G	-	2	0	TRIM36	114543602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	2.136000	0.66102	0.563000	0.77884	GGC		0.557	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		113	571	0	0	0	1	0	113	571				
GEMIN4	50628	broad.mit.edu	37	17	648153	648153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:648153G>A	ENST00000319004.5	-	2	3248	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S	GEMIN4_ENST00000576778.1_Missense_Mutation_p.P1033S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	1044					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTTCTTCAGGGCCGATGCCC	0.577																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(3097-3099)Cct>Tct		gem (nuclear organelle) associated protein 4							42.0	42.0	42.0					17																	648153		1994	4163	6157	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:648153G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.3130C>T	17.37:g.648153G>A	ENSP00000321706:p.Pro1044Ser					GEMIN4_ENST00000319004.5_Missense_Mutation_p.P1044S	p.P1033S			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	4438	-		Myeloproliferative disorder(207;0.204)	1044		R -> C (in dbSNP:rs7813).			Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.3097C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	7.474	0.647231	0.14516	.	.	ENSG00000179409	ENST00000319004	T	0.05382	3.45	5.71	5.71	0.89125	.	0.384630	0.28476	N	0.015215	T	0.13286	0.0322	L	0.60455	1.87	0.80722	D	1	D	0.56287	0.975	P	0.51516	0.672	T	0.07271	-1.0781	10	0.20519	T	0.43	-13.8527	14.6388	0.68708	0.0:0.2571:0.7429:0.0	.	1044	P57678	GEMI4_HUMAN	S	1044	ENSP00000321706:P1044S	ENSP00000321706:P1044S	P	-	1	0	GEMIN4	594903	0.893000	0.30496	0.996000	0.52242	0.073000	0.16967	1.509000	0.35780	2.709000	0.92574	0.655000	0.94253	CCT		0.577	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		11	129	0	0	0	1	0	11	129				
TTLL9	164395	broad.mit.edu	37	20	30486338	30486338	+	Missense_Mutation	SNP	G	G	A	rs147502895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30486338G>A	ENST00000375938.4	+	4	429	c.176G>A	c.(175-177)cGc>cAc	p.R59H	TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H|TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9H|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H|RNU1-94P_ENST00000362627.1_RNA			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	59	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GACGTCCTTCGCCACAGGCCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21241	0.0		0.001	False		,,,				2504	0.0					ENST00000375938.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(175-177)cGc>cAc		tubulin tyrosine ligase-like family, member 9		G	HIS/ARG	0,4096		0,0,2048	92.0	95.0	94.0		176	3.5	1.0	20	dbSNP_134	94	1,8391		0,1,4195	yes	missense	TTLL9	NM_001008409.2	29	0,1,6243	AA,AG,GG		0.0119,0.0,0.0080	benign	59/440	30486338	1,12487	2048	4196	6244	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30486338G>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.176G>A	20.37:g.30486338G>A	ENSP00000365105:p.Arg59His					TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9H|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H|TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H	p.R59H			Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	429	+			59			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.176G>A	CCDS42863.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.96	2.392147	0.42410	0.0	1.19E-4	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.10960	3.76;3.76;3.73;3.08;2.82;3.83	5.48	3.52	0.40303	.	0.271361	0.38548	N	0.001659	T	0.10465	0.0256	L	0.50919	1.6	0.35471	D	0.797353	B	0.11235	0.004	B	0.08055	0.003	T	0.06991	-1.0796	10	0.52906	T	0.07	.	7.8315	0.29344	0.1862:0.0:0.8138:0.0	.	59	Q3SXZ7	TTLL9_HUMAN	H	59;59;9;9;41;41;9	ENSP00000365105:R59H;ENSP00000442515:R59H;ENSP00000308980:R9H;ENSP00000365086:R9H;ENSP00000365100:R41H;ENSP00000365088:R9H	ENSP00000308980:R9H	R	+	2	0	TTLL9	29949999	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.154000	0.42291	1.312000	0.45043	0.563000	0.77884	CGC		0.522	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		9	273	0	0	0	1	0	9	273				
CAMSAP1	157922	broad.mit.edu	37	9	138712706	138712706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138712706C>T	ENST00000389532.4	-	11	3865	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.P989P|CAMSAP1_ENST00000409386.3_Silent_p.P1278P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1267					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCCGACCCCCGGCTTCTGGT	0.572																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3799-3801)ccG>ccA		calmodulin regulated spectrin-associated protein 1							43.0	47.0	45.0					9																	138712706		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138712706C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3801G>A	9.37:g.138712706C>T						CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.P1278P|CAMSAP1_ENST00000312405.6_Silent_p.P989P	p.P1267P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3865	-			1267					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.3801G>A	CCDS35176.2																																																																																				0.572	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		15	354	0	0	0	1	0	15	354				
ITGB2	3689	broad.mit.edu	37	21	46320304	46320304	+	Silent	SNP	G	G	A	rs147150938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320304G>A	ENST00000397850.2	-	8	1280	c.828C>T	c.(826-828)ggC>ggT	p.G276G	ITGB2_ENST00000302347.5_Silent_p.G276G|ITGB2_ENST00000397852.1_Silent_p.G276G|ITGB2_ENST00000397857.1_Silent_p.G276G|ITGB2_ENST00000397854.3_Silent_p.G219G|ITGB2_ENST00000355153.4_Silent_p.G276G			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	276	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCAGGATGGCGCCCAGCTTCC	0.627																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(826-828)ggC>ggT		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)	G	,	0,4406		0,0,2203	103.0	87.0	92.0		828,828	-9.8	0.0	21	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ITGB2	NM_000211.3,NM_001127491.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	276/770,276/770	46320304	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320304G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.828C>T	21.37:g.46320304G>A						ITGB2_ENST00000397854.3_Silent_p.G219G|ITGB2_ENST00000397852.1_Silent_p.G276G|ITGB2_ENST00000302347.5_Silent_p.G276G|ITGB2_ENST00000397857.1_Silent_p.G276G|ITGB2_ENST00000355153.4_Silent_p.G276G	p.G276G			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1280	-			276			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.828C>T	CCDS13716.1																																																																																				0.627	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		9	355	0	0	0	1	0	9	355				
COBL	23242	broad.mit.edu	37	7	51096022	51096022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51096022C>T	ENST00000265136.7	-	10	2936	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	COBL_ENST00000395542.2_Missense_Mutation_p.G1006E	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	924					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCCTTCCATCCTTGTGTCTC	0.592																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3016-3018)gGa>gAa		cordon-bleu WH2 repeat protein							112.0	82.0	92.0					7																	51096022		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096022C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2771G>A	7.37:g.51096022C>T	ENSP00000265136:p.Gly924Glu					COBL_ENST00000265136.7_Missense_Mutation_p.G924E	p.G1006E			O75128	COBL_HUMAN			12	3201	-	Glioma(55;0.08)		924					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3017G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766409	0.02974	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.10860	2.84;2.83;2.84;2.84	3.4	-2.19	0.07015	.	2.794910	0.01829	N	0.034593	T	0.09247	0.0228	L	0.29908	0.895	0.09310	N	1	B;B;B;B;P	0.43938	0.386;0.386;0.294;0.228;0.822	B;B;B;B;P	0.46543	0.124;0.178;0.057;0.083;0.52	T	0.14254	-1.0479	10	0.16420	T	0.52	.	0.8905	0.01253	0.2411:0.1759:0.3627:0.2203	.	924;981;924;1006;466	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	E	924;816;809;1006	ENSP00000265136:G924E;ENSP00000401204:G816E;ENSP00000413498:G809E;ENSP00000378912:G1006E	ENSP00000265136:G924E	G	-	2	0	COBL	51063516	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.883000	0.04170	-0.642000	0.05480	0.557000	0.71058	GGA		0.592	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		8	326	0	0	0	1	0	8	326				
POLR3B	55703	broad.mit.edu	37	12	106772100	106772100	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106772100G>A	ENST00000228347.4	+	8	774	c.552G>A	c.(550-552)ctG>ctA	p.L184L	POLR3B_ENST00000539066.1_Silent_p.L126L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	184					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAGAGCAGCTGTCTAAGAACA	0.413																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(550-552)ctG>ctA		polymerase (RNA) III (DNA directed) polypeptide B							154.0	146.0	148.0					12																	106772100		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106772100G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.552G>A	12.37:g.106772100G>A						POLR3B_ENST00000539066.1_Silent_p.L126L	p.L184L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			8	774	+			184					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.552G>A	CCDS9105.1																																																																																				0.413	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		95	391	0	0	0	1	0	95	391				
NAV2	89797	broad.mit.edu	37	11	19961293	19961293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19961293G>A	ENST00000396087.3	+	9	2288	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E|NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000396085.1_Missense_Mutation_p.G707E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	730					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCAAGACTGGACAGCCTGCT	0.532																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2119-2121)gGa>gAa		neuron navigator 2							137.0	105.0	116.0					11																	19961293		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19961293G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2189G>A	11.37:g.19961293G>A	ENSP00000379396:p.Gly730Glu					NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000396087.3_Missense_Mutation_p.G730E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E	p.G707E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			8	2481	+			730					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2120G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132349	0.56828	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28666	1.6;1.71;1.71;1.71;1.61;1.61	5.71	4.78	0.61160	.	0.094301	0.46442	D	0.000290	T	0.28665	0.0710	L	0.44542	1.39	0.80722	D	1	B;B	0.21071	0.051;0.041	B;B	0.22753	0.041;0.031	T	0.03784	-1.1004	9	.	.	.	.	16.3163	0.82930	0.0:0.2485:0.7515:0.0	.	707;643	Q8IVL1-3;Q8IVL1-4	.;.	E	643;707;707;730;659;661	ENSP00000353871:G643E;ENSP00000379394:G707E;ENSP00000309577:G707E;ENSP00000379396:G730E;ENSP00000435395:G659E;ENSP00000443489:G661E	.	G	+	2	0	NAV2	19917869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.932000	0.56537	1.372000	0.46190	0.563000	0.77884	GGA		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		29	133	0	0	0	1	0	29	133				
UBA2	10054	broad.mit.edu	37	19	34957800	34957800	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34957800A>G	ENST00000246548.4	+	16	1692	c.1622A>G	c.(1621-1623)gAc>gGc	p.D541G	UBA2_ENST00000439527.2_Missense_Mutation_p.D445G|UBA2_ENST00000592791.1_Missense_Mutation_p.D67G	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	541					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.D541V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTAGGAAAGGACGTTGAATTT	0.458																																						ENST00000439527.2																			1	Substitution - Missense(1)	p.D541V(1)	large_intestine(1)	breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1333-1335)gAc>gGc		ubiquitin-like modifier activating enzyme 2							75.0	73.0	74.0					19																	34957800		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34957800A>G	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1622A>G	19.37:g.34957800A>G	ENSP00000246548:p.Asp541Gly					UBA2_ENST00000246548.4_Missense_Mutation_p.D541G|UBA2_ENST00000592791.1_Missense_Mutation_p.D67G	p.D445G			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		16	1832	+	Esophageal squamous(110;0.162)		541					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.1334A>G	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543855	0.86022	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.61040	0.14;1.3	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.65975	2.015	0.80722	D	1	B	0.32653	0.379	B	0.31686	0.134	T	0.61950	-0.6957	10	0.66056	D	0.02	-19.6184	14.8649	0.70406	1.0:0.0:0.0:0.0	.	541	Q9UBT2	SAE2_HUMAN	G	541;445	ENSP00000246548:D541G;ENSP00000437484:D445G	ENSP00000246548:D541G	D	+	2	0	UBA2	39649640	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.479000	0.90431	2.213000	0.71641	0.455000	0.32223	GAC		0.458	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		28	178	0	0	0	1	0	28	178				
SLC12A5	57468	broad.mit.edu	37	20	44680390	44680390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44680390G>A	ENST00000454036.2	+	18	2376	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G753D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	776					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGCGTGATGGCGTGTCCCAT	0.607																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2326-2328)gGc>gAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						113.0	103.0	106.0					20																	44680390		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680390G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2327G>A	20.37:g.44680390G>A	ENSP00000387694:p.Gly776Asp					SLC12A5_ENST00000243964.3_Missense_Mutation_p.G753D	p.G776D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			18	2403	+		Myeloproliferative disorder(115;0.0122)	776					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2327G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340323	0.81911	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.97186	-4.28;-4.28	4.19	4.19	0.49359	.	0.136206	0.50627	D	0.000118	D	0.98406	0.9470	M	0.87180	2.865	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.68192	0.956;0.926	D	0.99201	1.0873	10	0.66056	D	0.02	.	16.0375	0.80640	0.0:0.0:1.0:0.0	.	776;753	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	776;753	ENSP00000387694:G776D;ENSP00000243964:G753D	ENSP00000243964:G753D	G	+	2	0	SLC12A5	44113797	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.978000	0.63799	2.302000	0.77476	0.462000	0.41574	GGC		0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			22	553	0	0	0	1	0	22	553				
DNM1P46	196968	broad.mit.edu	37	15	100341239	100341239	+	RNA	SNP	G	G	A	rs370136592		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100341239G>A	ENST00000341853.1	-	0	407					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CTTGGGCTTCGCACCAACCAT	0.567																																						ENST00000341853.1																			0															G		0,3082		0,0,1541	72.0	67.0	68.0			0.2	0.0	15		68	1,7115		0,1,3557	no	intergenic				0,1,5098	AA,AG,GG		0.0141,0.0,0.0098			100341239	1,10197	1541	3558	5099			0							g.chr15:100341239G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100341239G>A								NR_003260.1						0	407	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.567	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		7	261	0	0	0	1	0	7	261				
STRN4	29888	broad.mit.edu	37	19	47232016	47232016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232016C>T	ENST00000263280.6	-	7	947	c.898G>A	c.(898-900)Gtg>Atg	p.V300M	STRN4_ENST00000391910.3_Missense_Mutation_p.V300M|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M|STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	300						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ATTTCGGGCACCAGAGCCTTG	0.557											OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(898-900)Gtg>Atg		striatin, calmodulin binding protein 4							87.0	84.0	85.0					19																	47232016		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47232016C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.898G>A	19.37:g.47232016C>T	ENSP00000263280:p.Val300Met		OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	STRN4_ENST00000263280.6_Missense_Mutation_p.V300M|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M	p.V300M			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1348	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	300					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.898G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019671	0.35606	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.64260	-0.08;-0.09;0.04	4.64	3.56	0.40772	.	0.391047	0.25869	N	0.027773	T	0.47322	0.1439	L	0.32530	0.975	0.27214	N	0.959839	B;B	0.21452	0.056;0.004	B;B	0.25405	0.06;0.003	T	0.40794	-0.9544	10	0.46703	T	0.11	-5.7765	6.0249	0.19650	0.0:0.7031:0.1954:0.1015	.	300;300	F8VYA6;Q9NRL3	.;STRN4_HUMAN	M	300;300;181;181	ENSP00000375777:V300M;ENSP00000263280:V300M;ENSP00000440901:V181M	ENSP00000263280:V300M	V	-	1	0	STRN4	51923856	0.997000	0.39634	0.762000	0.31397	0.787000	0.44495	2.773000	0.47686	1.115000	0.41800	0.561000	0.74099	GTG		0.557	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			11	500	0	0	0	1	0	11	500				
PCYOX1L	78991	broad.mit.edu	37	5	148747604	148747604	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148747604G>T	ENST00000274569.4	+	6	934	c.872G>T	c.(871-873)aGc>aTc	p.S291I	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.S201I	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	291					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGCAACAGCTCTGACTTC	0.527											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(601-603)aGc>aTc		prenylcysteine oxidase 1 like							141.0	134.0	136.0					5																	148747604		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747604G>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.872G>T	5.37:g.148747604G>T	ENSP00000274569:p.Ser291Ile		OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.S291I	p.S201I			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1181	+			291					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.602G>T	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151505	0.21371	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15256	2.9;2.44	5.53	4.47	0.54385	Prenylcysteine lyase (1);	0.425451	0.27354	N	0.019756	T	0.11965	0.0291	N	0.08118	0	0.28518	N	0.913217	B;B;P	0.37594	0.033;0.364;0.601	B;B;B	0.41571	0.066;0.36;0.178	T	0.11641	-1.0579	10	0.37606	T	0.19	-20.1905	15.2515	0.73549	0.0788:0.0:0.9212:0.0	.	173;201;291	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	I	291;201	ENSP00000274569:S291I;ENSP00000428512:S201I	ENSP00000274569:S291I	S	+	2	0	PCYOX1L	148727797	0.981000	0.34729	0.910000	0.35882	0.327000	0.28475	2.055000	0.41345	2.590000	0.87494	0.561000	0.74099	AGC		0.527	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		29	748	1	0	7.26314e-15	1	7.90818e-15	29	748				
KIAA2022	340533	broad.mit.edu	37	X	73964099	73964099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73964099G>T	ENST00000055682.6	-	3	904	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	98					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAGGGAGATGGCATTCACAGA	0.517																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(292-294)gCc>gAc		KIAA2022							104.0	93.0	97.0					X																	73964099		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73964099G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.293C>A	X.37:g.73964099G>T	ENSP00000055682:p.Ala98Asp					KIAA2022_ENST00000055682.5_Missense_Mutation_p.A98D	p.A98D			Q5QGS0	K2022_HUMAN			3	944	-			98					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.293C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112719	0.56398	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.40225	1.04;1.04	5.2	5.2	0.72013	.	0.115622	0.56097	D	0.000021	T	0.55816	0.1944	L	0.44542	1.39	0.45662	D	0.998584	D	0.67145	0.996	P	0.62184	0.899	T	0.59059	-0.7525	10	0.87932	D	0	-8.8622	17.8486	0.88738	0.0:0.0:1.0:0.0	.	98	Q5QGS0	K2022_HUMAN	D	98	ENSP00000362567:A98D;ENSP00000055682:A98D	ENSP00000055682:A98D	A	-	2	0	KIAA2022	73880824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.893000	0.75649	2.403000	0.81681	0.600000	0.82982	GCC		0.517	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		87	292	1	0	1.42074e-37	1	1.70676e-37	87	292				
MYO1B	4430	broad.mit.edu	37	2	192234334	192234334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192234334C>T	ENST00000392318.3	+	12	1346	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	367	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R367*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTTGGTAAATCGAATCAATGA	0.318																																						ENST00000392318.3																			2	Substitution - Nonsense(2)	p.R367*(2)	large_intestine(2)	NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1099-1101)Cga>Tga		myosin IB							73.0	73.0	73.0					2																	192234334		2203	4300	6503	SO:0001587	stop_gained	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192234334C>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1099C>T	2.37:g.192234334C>T	ENSP00000376132:p.Arg367*					MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*	p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		12	1346	+			367			Myosin head-like.		O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	c.1099C>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	37	6.255787	0.97417	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2594	0.54642	0.2139:0.7861:0.0:0.0	.	.	.	.	X	367	.	ENSP00000306382:R367X	R	+	1	2	MYO1B	191942579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.934000	0.48956	2.565000	0.86533	0.655000	0.94253	CGA		0.318	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		39	374	0	0	0	1	0	39	374				
CNGA4	1262	broad.mit.edu	37	11	6261612	6261612	+	Silent	SNP	C	C	T	rs377739445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6261612C>T	ENST00000379936.2	+	4	703	c.588C>T	c.(586-588)ttC>ttT	p.F196F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	196					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGGGCTTCGGGCGTGACG	0.552																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(586-588)ttC>ttT		cyclic nucleotide gated channel alpha 4		C		0,4396		0,0,2198	62.0	65.0	64.0		588	-1.8	1.0	11		64	1,8583		0,1,4291	no	coding-synonymous	CNGA4	NM_001037329.3		0,1,6489	TT,TC,CC		0.0116,0.0,0.0077		196/576	6261612	1,12979	2198	4292	6490	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261612C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.588C>T	11.37:g.6261612C>T						CNGA4_ENST00000533426.1_Intron	p.F196F	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	703	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	196						Silent	SNP	ENST00000379936.2	37	c.588C>T	CCDS31408.1																																																																																				0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		144	650	0	0	0	1	0	144	650				
KDM4E	390245	broad.mit.edu	37	11	94759193	94759193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94759193C>A	ENST00000450979.2	+	1	772	c.472C>A	c.(472-474)Ctg>Atg	p.L158M		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	158	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGGAACAATTCTGGACCTGTT	0.502																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(472-474)Ctg>Atg		lysine (K)-specific demethylase 4E							29.0	25.0	26.0					11																	94759193		692	1578	2270	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759193C>A	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.472C>A	11.37:g.94759193C>A	ENSP00000397239:p.Leu158Met						p.L158M	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	772	+			158			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.472C>A	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	9.457	1.092208	0.20471	.	.	ENSG00000235268	ENST00000450979	T	0.74421	-0.84	2.18	1.23	0.21249	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.	.	.	.	D	0.85957	0.5818	M	0.92923	3.36	0.28432	N	0.917216	D	0.71674	0.998	D	0.67725	0.953	T	0.75725	-0.3217	9	0.72032	D	0.01	-15.0965	6.1282	0.20192	0.0:0.8203:0.0:0.1797	.	158	B2RXH2	KD4DL_HUMAN	M	158	ENSP00000397239:L158M	ENSP00000397239:L158M	L	+	1	2	KDM4DL	94398841	0.002000	0.14202	0.421000	0.26609	0.346000	0.29079	-0.021000	0.12504	0.459000	0.27016	0.455000	0.32223	CTG		0.502	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		16	213	1	0	4.7546e-09	1	4.99022e-09	16	213				
FBXO42	54455	broad.mit.edu	37	1	16579592	16579592	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16579592G>A	ENST00000375592.3	-	8	1136	c.920C>T	c.(919-921)gCt>gTt	p.A307V		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	307										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AATACTCACAGCATTGGGACC	0.433																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.e8+1		F-box protein 42							63.0	56.0	58.0					1																	16579592		2203	4300	6503	SO:0001630	splice_region_variant	54455							g.chr1:16579592G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.921+1C>T	1.37:g.16579592G>A							p.A307_splice	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	8	1136	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	307					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Splice_Site	SNP	ENST00000375592.3	37	c.921_splice	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204529	0.79127	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.66280	-0.2;-0.16;-0.16	5.86	5.86	0.93980	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	L	0.50333	1.59	0.80722	D	1	B	0.27450	0.179	B	0.28638	0.092	T	0.53774	-0.8391	10	0.27785	T	0.31	-8.6863	19.1901	0.93663	0.0:0.0:1.0:0.0	.	307	Q6P3S6	FBX42_HUMAN	V	307;25;25	ENSP00000364742:A307V;ENSP00000415663:A25V;ENSP00000412416:A25V	ENSP00000364742:A307V	A	-	2	0	FBXO42	16452179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.176000	0.89686	2.776000	0.95493	0.655000	0.94253	GCT		0.433	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1		Missense_Mutation	11	88	0	0	0	1	0	11	88				
ZSCAN5B	342933	broad.mit.edu	37	19	56704380	56704380	+	Silent	SNP	G	G	T	rs372790304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56704380G>T	ENST00000586855.2	-	2	355	c.42C>A	c.(40-42)ccC>ccA	p.P14P	ZSCAN5B_ENST00000358992.3_Silent_p.P14P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	14					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTGTTGCAGGGTCCTCCCT	0.507																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(40-42)ccC>ccA		zinc finger and SCAN domain containing 5B							49.0	42.0	44.0					19																	56704380		692	1591	2283	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704380G>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.42C>A	19.37:g.56704380G>T						ZSCAN5B_ENST00000358992.3_Silent_p.P14P	p.P14P			A6NJL1	ZSA5B_HUMAN			2	355	-			14						Silent	SNP	ENST00000586855.2	37	c.42C>A	CCDS46203.1																																																																																				0.507	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		17	71	1	0	4.7546e-09	1	4.99022e-09	17	71				
PCDHA2	56146	broad.mit.edu	37	5	140176178	140176178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176178G>A	ENST00000526136.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.P543P|PCDHA2_ENST00000378132.1_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1627-1629)ccG>ccA									61.0	64.0	63.0					5																	140176178		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140176178G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1629G>A	5.37:g.140176178G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.P543P	p.P543P	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1629	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1629G>A	CCDS54914.1																																																																																				0.692	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		137	578	0	0	0	1	0	137	578				
CWH43	80157	broad.mit.edu	37	4	48994109	48994109	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48994109T>C	ENST00000226432.4	+	4	694		c.e4+2		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCACAGGTAATACTGTAA	0.368																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.e4+2		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							132.0	118.0	123.0					4																	48994109		2203	4300	6503	SO:0001630	splice_region_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:48994109T>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.511+2T>C	4.37:g.48994109T>C						CWH43_ENST00000513409.1_Splice_Site		NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			4	694	+								B2RPD7	Splice_Site	SNP	ENST00000226432.4	37		CCDS3486.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059589	0.36373	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	5.24	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.499	0.39006	0.0:0.0792:0.0:0.9208	.	.	.	.	.	-1	.	.	.	+	.	.	CWH43	48688866	1.000000	0.71417	0.991000	0.47740	0.476000	0.33039	3.095000	0.50235	1.024000	0.39682	0.402000	0.26972	.		0.368	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	Intron	49	244	0	0	0	1	0	49	244				
GATA3	2625	broad.mit.edu	37	10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A	rs200935603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8115837G>A	ENST00000346208.3	+	6	1638	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	GATA3_ENST00000379328.3_Missense_Mutation_p.A396T|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	395					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TAACCCGGCCGCCCTCTCCAG	0.562			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						G|||	1	0.000199681	0.0	0.0	5008	,	,		15615	0.001		0.0	False		,,,				2504	0.0					ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(1186-1188)Gcc>Acc		GATA binding protein 3							101.0	101.0	101.0					10																	8115837		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115837G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1183G>A	10.37:g.8115837G>A	ENSP00000341619:p.Ala395Thr					GATA3_ENST00000346208.3_Missense_Mutation_p.A395T|GATA3_ENST00000461472.1_3'UTR	p.A396T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			6	1754	+			395					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1186G>A	CCDS7083.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.38	2.517688	0.44763	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96587	-4.06;-4.03	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	L	0.55481	1.735	0.58432	D	0.999998	D;P	0.76494	0.999;0.588	D;B	0.75020	0.985;0.239	D	0.97524	1.0075	10	0.48119	T	0.1	-12.9454	18.8714	0.92317	0.0:0.0:1.0:0.0	.	395;396	P23771;P23771-2	GATA3_HUMAN;.	T	396;395	ENSP00000368632:A396T;ENSP00000341619:A395T	ENSP00000341619:A395T	A	+	1	0	GATA3	8155843	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.707000	0.68370	2.447000	0.82792	0.462000	0.41574	GCC		0.562	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		117	459	0	0	0	1	0	117	459				
RALGPS1	9649	broad.mit.edu	37	9	129831557	129831557	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129831557A>C	ENST00000259351.5	+	8	799	c.532A>C	c.(532-534)Atg>Ctg	p.M178L	RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	178	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGACTACCTGATGTCGAAAGA	0.363																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(532-534)Atg>Ctg		Ral GEF with PH domain and SH3 binding motif 1							100.0	101.0	101.0					9																	129831557		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129831557A>C	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.532A>C	9.37:g.129831557A>C	ENSP00000259351:p.Met178Leu					RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L	p.M178L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			8	799	+			178			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.532A>C	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	A	4.633	0.117738	0.08881	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.34	4.2	0.49525	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.246145	0.42682	D	0.000675	T	0.16981	0.0408	N	0.16478	0.41	0.24790	N	0.992763	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.12837	0.008;0.003;0.004;0.005	T	0.16453	-1.0402	10	0.28530	T	0.3	.	7.1063	0.25366	0.6705:0.2538:0.0757:0.0	.	178;178;178;178	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	178;178;178;178;148;178;178	ENSP00000259351:M178L;ENSP00000415630:M178L;ENSP00000377590:M178L;ENSP00000317149:M148L;ENSP00000362535:M178L;ENSP00000362533:M178L	ENSP00000259351:M178L	M	+	1	0	RALGPS1	128871378	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	5.304000	0.65744	0.989000	0.38761	-0.276000	0.10085	ATG		0.363	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		66	242	0	0	0	1	0	66	242				
CASKIN2	57513	broad.mit.edu	37	17	73498457	73498457	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73498457T>C	ENST00000321617.3	-	18	3284	c.2698A>G	c.(2698-2700)Aca>Gca	p.T900A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.T818A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	900	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGGCCCTGTGGCCCCTTCC	0.731																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2698-2700)Aca>Gca		CASK interacting protein 2							4.0	5.0	4.0					17																	73498457		1946	3872	5818	SO:0001583	missense	57513					cytoplasm		g.chr17:73498457T>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2698A>G	17.37:g.73498457T>C	ENSP00000325355:p.Thr900Ala					CASKIN2_ENST00000433559.2_Missense_Mutation_p.T818A	p.T900A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3284	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		900			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2698A>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.384394	0.01194	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69175	-0.38;-0.2	4.87	-9.73	0.00512	.	1.558810	0.04076	N	0.308754	T	0.44932	0.1317	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.24483	T	0.36	.	3.5114	0.07709	0.132:0.097:0.2668:0.5041	.	900	Q8WXE0	CSKI2_HUMAN	A	900;818	ENSP00000325355:T900A;ENSP00000406963:T818A	ENSP00000325355:T900A	T	-	1	0	CASKIN2	71010052	0.000000	0.05858	0.000000	0.03702	0.810000	0.45777	-2.834000	0.00741	-4.320000	0.00056	-0.723000	0.03601	ACA		0.731	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		6	56	0	0	0	1	0	6	56				
UBAP2L	9898	broad.mit.edu	37	1	154232488	154232488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154232488C>T	ENST00000361546.2	+	21	2603	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A854V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	854					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGTAGCCTGGCCAGCAACCCT	0.473																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(2560-2562)gCc>gTc		ubiquitin associated protein 2-like							89.0	88.0	89.0					1																	154232488		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154232488C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2561C>T	1.37:g.154232488C>T	ENSP00000355343:p.Ala854Val					UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V|UBAP2L_ENST00000361546.2_Missense_Mutation_p.A854V|UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V	p.A854V	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		22	2728	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		854					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.2561C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798759	0.70567	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.06	5.06	0.68205	.	0.183950	0.47852	D	0.000212	T	0.38558	0.1045	L	0.48642	1.525	0.37479	D	0.915909	D;B;B;B;P;B;P	0.57257	0.979;0.069;0.039;0.039;0.634;0.008;0.94	P;B;B;B;B;B;P	0.58130	0.833;0.037;0.023;0.023;0.204;0.015;0.771	T	0.30090	-0.9990	10	0.87932	D	0	-4.4735	13.9417	0.64059	0.0:0.8354:0.1646:0.0	.	768;865;847;854;350;854;854	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157	.;.;.;.;.;.;UBP2L_HUMAN	V	854;854;350;350;865;854	ENSP00000345308:A854V;ENSP00000389445:A854V;ENSP00000271877:A865V;ENSP00000355343:A854V	ENSP00000271877:A865V	A	+	2	0	UBAP2L	152499112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.621000	0.88768	0.650000	0.86243	GCC		0.473	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		67	415	0	0	0	1	0	67	415				
DOCK5	80005	broad.mit.edu	37	8	25193798	25193798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25193798G>A	ENST00000276440.7	+	22	2280	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	746					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TAATGCAGATGACTCCAGCAA	0.408																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2236-2238)Gac>Aac		dedicator of cytokinesis 5							106.0	98.0	101.0					8																	25193798		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25193798G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2236G>A	8.37:g.25193798G>A	ENSP00000276440:p.Asp746Asn						p.D746N	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	22	2280	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	746					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2236G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374598	0.42105	.	.	ENSG00000147459	ENST00000276440	T	0.22336	1.96	5.76	5.76	0.90799	Armadillo-type fold (1);	0.100113	0.64402	D	0.000002	T	0.30479	0.0766	M	0.71036	2.16	0.80722	D	1	B;B;B	0.30179	0.006;0.271;0.006	B;B;B	0.30716	0.004;0.119;0.004	T	0.03095	-1.1073	10	0.39692	T	0.17	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	736;521;746	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	N	746	ENSP00000276440:D746N	ENSP00000276440:D746N	D	+	1	0	DOCK5	25249715	1.000000	0.71417	0.969000	0.41365	0.320000	0.28249	6.701000	0.74624	2.879000	0.98667	0.650000	0.86243	GAC		0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		26	146	0	0	0	1	0	26	146				
GCHFR	2644	broad.mit.edu	37	15	41059447	41059447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41059447C>A	ENST00000260447.4	+	3	316	c.155C>A	c.(154-156)cCt>cAt	p.P52H	GCHFR_ENST00000558467.1_Missense_Mutation_p.P35H|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|C15orf62_ENST00000344320.6_5'Flank|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.P35H|DNAJC17_ENST00000558727.1_5'Flank	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	52					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GTCGATGACCCTCCCCGCATA	0.592																																						ENST00000558467.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6						c.(103-105)cCt>cAt		GTP cyclohydrolase I feedback regulator							110.0	102.0	105.0					15																	41059447		2203	4300	6503	SO:0001583	missense	2644				negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		g.chr15:41059447C>A	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"""GTP cyclohydrolase I feedback regulatory protein"""			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.155C>A	15.37:g.41059447C>A	ENSP00000260447:p.Pro52His					GCHFR_ENST00000260447.4_Missense_Mutation_p.P52H|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.P35H	p.P35H			P30047	GFRP_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	2	326	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	52					B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Missense_Mutation	SNP	ENST00000260447.4	37	c.104C>A	CCDS10064.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129110	0.94473	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	.	0.045192	0.85682	D	0.000000	D	0.82467	0.5043	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.947	D	0.83786	0.0228	8	0.87932	D	0	-6.9784	19.6421	0.95762	0.0:1.0:0.0:0.0	.	41;52	B7ZLM8;P30047	.;GFRP_HUMAN	H	52	.	ENSP00000260447:P52H	P	+	2	0	GCHFR	38846739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.313000	0.78978	2.815000	0.96918	0.561000	0.74099	CCT		0.592	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	NM_005258		57	604	1	0	7.47603e-22	1	8.43918e-22	57	604				
INO80E	283899	broad.mit.edu	37	16	30007925	30007925	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30007925T>C	ENST00000563197.1	+	2	1156	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	INO80E_ENST00000304516.7_Missense_Mutation_p.S47P|INO80E_ENST00000563040.1_3'UTR|INO80E_ENST00000567254.1_Missense_Mutation_p.S47P|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_Missense_Mutation_p.S47P|HIRIP3_ENST00000279392.3_5'Flank|HIRIP3_ENST00000564026.1_5'Flank	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	47					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						ACTGAAGGTGTCCCGGGACAA	0.597																																						ENST00000563197.1																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						c.(139-141)Tcc>Ccc		INO80 complex subunit E							57.0	47.0	50.0					16																	30007925		2194	4298	6492	SO:0001583	missense	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30007925T>C	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.139T>C	16.37:g.30007925T>C	ENSP00000457016:p.Ser47Pro					INO80E_ENST00000304516.7_Missense_Mutation_p.S47P|INO80E_ENST00000567254.1_Missense_Mutation_p.S47P|INO80E_ENST00000567705.1_Missense_Mutation_p.S47P|INO80E_ENST00000563040.1_3'UTR	p.S47P	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN			2	1156	+			47					Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	c.139T>C	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	T	34	5.394629	0.96009	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.64170	1.965	0.58432	D	0.999998	P;D;D	0.57899	0.945;0.981;0.981	D;D;D	0.71184	0.959;0.972;0.959	T	0.78344	-0.2240	9	0.87932	D	0	-17.7738	13.6838	0.62504	0.0:0.0:0.0:1.0	.	71;47;47	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	P	47;71;47	.	ENSP00000303977:S47P	S	+	1	0	INO80E	29915426	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.974000	0.70465	2.125000	0.65367	0.533000	0.62120	TCC		0.597	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		7	45	0	0	0	1	0	7	45				
OR2F2	135948	broad.mit.edu	37	7	143632519	143632519	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143632519A>G	ENST00000408955.2	+	1	261	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTTCTCACCAACCTCTCCCTT	0.507																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(193-195)aAc>aGc		olfactory receptor, family 2, subfamily F, member 2							245.0	237.0	240.0					7																	143632519		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632519A>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.194A>G	7.37:g.143632519A>G	ENSP00000386222:p.Asn65Ser						p.N65S	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	261	+	Melanoma(164;0.0903)		65					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.194A>G	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927836	0.52759	.	.	ENSG00000221910	ENST00000408955	T	0.01963	4.53	3.49	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.04724	0.0128	M	0.66939	2.045	0.31028	N	0.717781	D	0.54772	0.968	P	0.49140	0.601	T	0.09164	-1.0687	10	0.66056	D	0.02	-26.1493	6.8745	0.24139	0.883:0.0:0.117:0.0	.	65	O95006	OR2F2_HUMAN	S	65	ENSP00000386222:N65S	ENSP00000386222:N65S	N	+	2	0	OR2F2	143263452	0.998000	0.40836	0.991000	0.47740	0.888000	0.51559	4.936000	0.63506	0.527000	0.28560	0.402000	0.26972	AAC		0.507	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			214	1028	0	0	0	1	0	214	1028				
PTPRN	5798	broad.mit.edu	37	2	220162648	220162648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162648C>T	ENST00000295718.2	-	13	2086	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R|PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	616					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCTCAGGCCCCAGGGCTGCC	0.647																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1846-1848)Ggg>Agg		protein tyrosine phosphatase, receptor type, N							18.0	19.0	19.0					2																	220162648		2194	4290	6484	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162648C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1846G>A	2.37:g.220162648C>T	ENSP00000295718:p.Gly616Arg					PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R|PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R	p.G616R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	13	2086	-		Renal(207;0.0474)	616					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1846G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819837	0.71028	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05382	3.73;3.46;3.45	4.76	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.23370	0.0565	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.961	T	0.00975	-1.1494	10	0.87932	D	0	.	12.4672	0.55766	0.0:0.9188:0.0:0.0812	.	587;616	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	587;616;587;526	ENSP00000386638:G587R;ENSP00000295718:G616R;ENSP00000444244:G526R	ENSP00000295718:G616R	G	-	1	0	PTPRN	219870892	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.002000	0.63952	1.229000	0.43630	0.655000	0.94253	GGG		0.647	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			32	112	0	0	0	1	0	32	112				
APBB3	10307	broad.mit.edu	37	5	139943436	139943436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139943436G>A	ENST00000357560.4	-	2	557	c.114C>T	c.(112-114)atC>atT	p.I38I	APBB3_ENST00000511201.2_Silent_p.I38I|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000354402.5_Silent_p.I38I|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000356738.2_Silent_p.I38I|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000358580.5_Silent_p.I38I|APBB3_ENST00000508496.2_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	38	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCGTGGATCTTCCTCC	0.597																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(112-114)atC>atT		amyloid beta (A4) precursor protein-binding, family B, member 3							85.0	79.0	81.0					5																	139943436		2203	4300	6503	SO:0001819	synonymous_variant	10307					actin cytoskeleton|cytoplasm		g.chr5:139943436G>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.114C>T	5.37:g.139943436G>A						APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000356738.2_Silent_p.I38I|APBB3_ENST00000354402.5_Silent_p.I38I|APBB3_ENST00000358580.5_Silent_p.I38I|APBB3_ENST00000511201.2_Silent_p.I38I	p.I38I	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	557	-			38			WW.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	37	c.114C>T	CCDS4229.1																																																																																				0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		44	199	0	0	0	1	0	44	199				
HDC	3067	broad.mit.edu	37	15	50534865	50534865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50534865C>T	ENST00000267845.3	-	12	1983	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Silent_p.Q494Q	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTCCCACACGCTGAGGCTGCT	0.577																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1579-1581)caG>caA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						58.0	57.0	57.0					15																	50534865		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534865C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1581G>A	15.37:g.50534865C>T						HDC_ENST00000543581.1_Silent_p.Q494Q	p.Q527Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1983	-		all_lung(180;0.0138)	527						Silent	SNP	ENST00000267845.3	37	c.1581G>A	CCDS10134.1																																																																																				0.577	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			64	239	0	0	0	1	0	64	239				
FAM184A	79632	broad.mit.edu	37	6	119337965	119337965	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119337965C>A	ENST00000338891.7	-	5	1920	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S|FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	493						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCAATTGCCATATGGTGC	0.348																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1477-1479)Gca>Tca		family with sequence similarity 184, member A							134.0	125.0	127.0					6																	119337965		1824	4093	5917	SO:0001583	missense	79632							g.chr6:119337965C>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1477G>T	6.37:g.119337965C>A	ENSP00000342604:p.Ala493Ser					RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S|FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S|FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S	p.A493S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			5	1920	-			493					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1477G>T	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.611390|3.611390	0.66558|0.66558	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00333|.	8.07;8.07;8.07;8.07;8.07|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.172963|.	0.50627|.	D|.	0.000108|.	T|T	0.61022|0.61022	0.2314|0.2314	L|L	0.48362|0.48362	1.52|1.52	0.48236|0.48236	D|D	0.999613|0.999613	D;D;D|.	0.89917|.	0.998;1.0;0.999|.	D;D;D|.	0.83275|.	0.994;0.996;0.996|.	T|T	0.58498|0.58498	-0.7626|-0.7626	10|5	0.39692|.	T|.	0.17|.	-11.3991|-11.3991	18.6868|18.6868	0.91567|0.91567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493;373;493|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	S|C	493;373;373;493;373|78	ENSP00000342604:A493S;ENSP00000326608:A373S;ENSP00000357460:A373S;ENSP00000430442:A493S;ENSP00000429826:A373S|.	ENSP00000342604:A493S|.	A|W	-|-	1|3	0|0	FAM184A|FAM184A	119379664|119379664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.163000|3.163000	0.50763|0.50763	2.433000|2.433000	0.82419|0.82419	0.491000|0.491000	0.48974|0.48974	GCA|TGG		0.348	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		61	343	1	0	1.53716e-24	1	1.75837e-24	61	343				
LRRK2	120892	broad.mit.edu	37	12	40697802	40697802	+	Missense_Mutation	SNP	G	G	A	rs143710836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40697802G>A	ENST00000298910.7	+	27	3701	c.3643G>A	c.(3643-3645)Gca>Aca	p.A1215T	LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1215					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGGTCCCGCACACTGGAA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18544	0.0		0.001	False		,,,				2504	0.0					ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3643-3645)Gca>Aca		leucine-rich repeat kinase 2		G	THR/ALA	0,4406		0,0,2203	94.0	95.0	94.0		3643	3.5	0.9	12	dbSNP_134	94	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LRRK2	NM_198578.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	1215/2528	40697802	4,13002	2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697802G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3643G>A	12.37:g.40697802G>A	ENSP00000298910:p.Ala1215Thr					LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	p.A1215T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			27	3701	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1215					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3643G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071280	0.36566	0.0	4.65E-4	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.72505	0.2;-0.66	5.37	3.51	0.40186	.	0.410140	0.26116	N	0.026250	T	0.42854	0.1221	N	0.17723	0.515	0.09310	N	1	P;B;P	0.38535	0.635;0.384;0.635	B;B;B	0.27380	0.079;0.038;0.079	T	0.28744	-1.0034	10	0.30854	T	0.27	.	2.0332	0.03534	0.1515:0.1347:0.4361:0.2777	.	1215;1215;1215	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	T	1215	ENSP00000341930:A1215T;ENSP00000298910:A1215T	ENSP00000298910:A1215T	A	+	1	0	LRRK2	38984069	0.000000	0.05858	0.892000	0.35008	0.973000	0.67179	0.349000	0.20055	0.726000	0.32339	0.557000	0.71058	GCA		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		78	305	0	0	0	1	0	78	305				
MASP1	5648	broad.mit.edu	37	3	187009414	187009414	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187009414A>G	ENST00000337774.5	-	1	395		c.e1+1		MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Splice_Site|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000296280.6_Splice_Site	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTGGCACGTACCTCATTTTC	0.607																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.e1+1		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							141.0	111.0	121.0					3																	187009414		2203	4300	6503	SO:0001630	splice_region_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:187009414A>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.5+1T>C	3.37:g.187009414A>G						MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000169293.6_Splice_Site		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	1	395	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)							A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Splice_Site	SNP	ENST00000337774.5	37		CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353985	0.41700	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392475	.	.	.	5.86	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2095	0.48790	0.8464:0.1536:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MASP1	188492108	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.105000	0.64591	1.020000	0.39573	0.460000	0.39030	.		0.607	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	Intron	73	381	0	0	0	1	0	73	381				
KCTD5	54442	broad.mit.edu	37	16	2752365	2752365	+	Silent	SNP	C	C	T	rs118149302	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2752365C>T	ENST00000301738.4	+	5	635	c.561C>T	c.(559-561)atC>atT	p.I187I	KCTD5_ENST00000564195.1_Missense_Mutation_p.R157W	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	187					protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						TGGTCAGCATCGGCTCCTCTT	0.602													c|||	5	0.000998403	0.0	0.0	5008	,	,		15239	0.0		0.005	False		,,,				2504	0.0				Ovarian(56;981 1456 4301 50892)	ENST00000564195.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(469-471)Cgg>Tgg		potassium channel tetramerization domain containing 5		C		9,4387	15.5+/-35.6	0,9,2189	106.0	91.0	96.0		561	-4.1	1.0	16	dbSNP_132	96	64,8536	39.8+/-96.3	0,64,4236	no	coding-synonymous	KCTD5	NM_018992.3		0,73,6425	TT,TC,CC		0.7442,0.2047,0.5617		187/235	2752365	73,12923	2198	4300	6498	SO:0001819	synonymous_variant	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2752365C>T	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.561C>T	16.37:g.2752365C>T						KCTD5_ENST00000301738.4_Silent_p.I187I	p.R157W			Q9NXV2	KCTD5_HUMAN			4	478	+			0					D3DU96	Missense_Mutation	SNP	ENST00000301738.4	37	c.469C>T	CCDS10475.1																																																																																				0.602	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		22	346	0	0	0	1	0	22	346				
GRM2	2912	broad.mit.edu	37	3	51743339	51743339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743339G>A	ENST00000395052.3	+	2	574	c.340G>A	c.(340-342)Gct>Act	p.A114T	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A114T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	114					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGCCGTGGTGCTGATGGCTC	0.597																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(340-342)Gct>Act		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						92.0	72.0	78.0					3																	51743339		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743339G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.340G>A	3.37:g.51743339G>A	ENSP00000378492:p.Ala114Thr					GRM2_ENST00000442933.2_Missense_Mutation_p.A114T|GRM2_ENST00000475478.1_Intron	p.A114T	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	574	+			114					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.340G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202368	0.38905	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.143290	0.48286	D	0.000185	T	0.66626	0.2808	N	0.02721	-0.515	0.41098	D	0.985647	B	0.17038	0.02	B	0.21360	0.034	T	0.64037	-0.6501	10	0.14252	T	0.57	.	12.5595	0.56273	0.0758:0.0:0.9242:0.0	.	114	Q14416	GRM2_HUMAN	T	114	ENSP00000378492:A114T;ENSP00000408906:A114T	ENSP00000296479:A114T	A	+	1	0	GRM2	51718379	0.997000	0.39634	0.260000	0.24451	0.952000	0.60782	4.131000	0.57970	2.555000	0.86185	0.655000	0.94253	GCT		0.597	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			68	286	0	0	0	1	0	68	286				
TFG	10342	broad.mit.edu	37	3	100432536	100432536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100432536G>A	ENST00000240851.4	+	2	347	c.7G>A	c.(7-9)Gga>Aga	p.G3R	TFG_ENST00000490574.1_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R|TFG_ENST00000418917.2_Missense_Mutation_p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	3					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.G3*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCATGAACGGACAGTTGGA	0.353			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	1	Substitution - Nonsense(1)	p.G3*(1)	lung(1)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(7-9)Gga>Aga		TRK-fused gene							98.0	93.0	94.0					3																	100432536		2203	4300	6503	SO:0001583	missense	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100432536G>A	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.7G>A	3.37:g.100432536G>A	ENSP00000240851:p.Gly3Arg					TFG_ENST00000418917.2_Missense_Mutation_p.G3R|TFG_ENST00000490574.1_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R	p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			2	347	+			3					D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	c.7G>A	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102352	0.94245	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58880	-0.7558	10	0.62326	D	0.03	-10.1794	20.2985	0.98592	0.0:0.0:1.0:0.0	.	3;3	G5E9V1;Q92734	.;TFG_HUMAN	R	3	ENSP00000397182:G3R;ENSP00000419960:G3R;ENSP00000240851:G3R;ENSP00000419559:G3R;ENSP00000417952:G3R;ENSP00000419504:G3R;ENSP00000420797:G3R	ENSP00000240851:G3R	G	+	1	0	TFG	101915226	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.167000	0.94773	2.793000	0.96121	0.655000	0.94253	GGA		0.353	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		86	321	0	0	0	1	0	86	321				
DEPDC4	120863	broad.mit.edu	37	12	100656045	100656045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100656045C>T	ENST00000416321.1	-	3	699	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	233					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATTACCTTCTTTTGAAAGC	0.338																																						ENST00000416321.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						c.(697-699)Gaa>Aaa		DEP domain containing 4							76.0	75.0	75.0					12																	100656045		2203	4299	6502	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100656045C>T	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.697G>A	12.37:g.100656045C>T	ENSP00000396234:p.Glu233Lys						p.E233K	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN			3	699	-			233					Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.697G>A	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	C	7.704	0.693806	0.15039	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.35789	1.33;1.29;1.6;1.34	4.36	3.34	0.38264	.	1.536140	0.05008	N	0.470470	T	0.18467	0.0443	N	0.04203	-0.255	0.24219	N	0.995446	B;B;B;B	0.18310	0.0;0.0;0.027;0.004	B;B;B;B	0.13407	0.001;0.001;0.009;0.003	T	0.22417	-1.0217	10	0.27785	T	0.31	.	5.0182	0.14347	0.0:0.6158:0.0:0.3842	.	233;233;166;233	E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.;.;.;DEPD4_HUMAN	K	233;166;233;233;166;226	ENSP00000396234:E233K;ENSP00000448385:E233K;ENSP00000448338:E166K;ENSP00000449590:E226K	ENSP00000367490:E233K	E	-	1	0	DEPDC4	99180176	0.999000	0.42202	0.994000	0.49952	0.900000	0.52787	0.369000	0.20416	0.678000	0.31325	0.514000	0.50259	GAA		0.338	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		46	192	0	0	0	1	0	46	192				
SLC12A7	10723	broad.mit.edu	37	5	1052522	1052522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052522G>T	ENST00000264930.5	-	24	3248	c.3205C>A	c.(3205-3207)Ctc>Atc	p.L1069I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1069					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTGACCAGGAGGACTCTGTTC	0.582																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(3205-3207)Ctc>Atc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						105.0	102.0	103.0					5																	1052522		2203	4299	6502	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1052522G>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3205C>A	5.37:g.1052522G>T	ENSP00000264930:p.Leu1069Ile						p.L1069I	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		24	3248	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		1069					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.3205C>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005878	0.54254	.	.	ENSG00000113504	ENST00000264930	T	0.57107	0.42	3.88	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.53594	0.1806	M	0.73430	2.235	0.46725	D	0.999177	P	0.41947	0.766	P	0.46144	0.505	T	0.50533	-0.8817	10	0.40728	T	0.16	.	5.193	0.15220	0.1123:0.0:0.6865:0.2012	.	1069	Q9Y666	S12A7_HUMAN	I	1069	ENSP00000264930:L1069I	ENSP00000264930:L1069I	L	-	1	0	SLC12A7	1105522	1.000000	0.71417	0.484000	0.27391	0.990000	0.78478	5.150000	0.64869	0.747000	0.32809	0.491000	0.48974	CTC		0.582	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		52	585	1	0	8.28887e-21	1	9.30627e-21	52	585				
SOX30	11063	broad.mit.edu	37	5	157073693	157073693	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157073693A>G	ENST00000265007.6	-	3	1680	c.1339T>C	c.(1339-1341)Tac>Cac	p.Y447H	SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H|SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	447					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCACAGAGTACGTAGGTGAG	0.368																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1339-1341)Tac>Cac		SRY (sex determining region Y)-box 30							162.0	153.0	156.0					5																	157073693		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157073693A>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1339T>C	5.37:g.157073693A>G	ENSP00000265007:p.Tyr447His					SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H|SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H	p.Y447H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1680	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	447					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.1339T>C	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777591	0.70107	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.98249	-4.82;-4.33;-4.61	5.24	5.24	0.73138	.	0.107024	0.42172	D	0.000754	D	0.97411	0.9153	N	0.24115	0.695	0.33154	D	0.546052	D;D;D	0.76494	0.999;0.998;0.996	D;P;P	0.63597	0.916;0.904;0.804	D	0.99901	1.1161	10	0.54805	T	0.06	.	14.0019	0.64437	1.0:0.0:0.0:0.0	.	142;447;447	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	H	447;447;142	ENSP00000309343:Y447H;ENSP00000265007:Y447H;ENSP00000427984:Y142H	ENSP00000265007:Y447H	Y	-	1	0	SOX30	157006271	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.993000	0.70616	2.111000	0.64477	0.528000	0.53228	TAC		0.368	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		107	452	0	0	0	1	0	107	452				
NFATC4	4776	broad.mit.edu	37	14	24839076	24839076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24839076G>A	ENST00000250373.4	+	2	613	c.472G>A	c.(472-474)Gca>Aca	p.A158T	NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000413692.2_Missense_Mutation_p.A221T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	158	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTACAGAGAAGCAGGGGGCCA	0.667																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(661-663)Gca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							8.0	10.0	9.0					14																	24839076		2120	4234	6354	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839076G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.472G>A	14.37:g.24839076G>A	ENSP00000250373:p.Ala158Thr					NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000250373.4_Missense_Mutation_p.A158T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T	p.A221T	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	805	+			158			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.661G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171899	0.21704	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	3.8	2.91	0.33838	.	0.397445	0.18366	N	0.143422	T	0.09905	0.0243	N	0.14661	0.345	0.42755	D	0.993781	P;B;P;B;P;P;P;B;B;B;B;B;B;P	0.50528	0.936;0.0;0.936;0.0;0.936;0.936;0.936;0.0;0.0;0.0;0.0;0.0;0.0;0.895	P;B;P;B;P;P;P;B;B;B;B;B;B;B	0.44477	0.451;0.001;0.451;0.001;0.451;0.451;0.451;0.001;0.001;0.001;0.001;0.001;0.001;0.264	T	0.18178	-1.0345	10	0.38643	T	0.18	-3.8362	5.22	0.15364	0.1177:0.2108:0.6714:0.0	.	146;146;190;190;171;171;171;221;221;146;190;135;221;158	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	T	221;221;171;171;171;190;190;190;158;158;158;135;88;88;88;146;88;146;146	ENSP00000388910:A221T;ENSP00000452039:A221T;ENSP00000451224:A171T;ENSP00000450644:A171T;ENSP00000388668:A171T;ENSP00000439350:A190T;ENSP00000452270:A190T;ENSP00000451502:A190T;ENSP00000451151:A158T;ENSP00000250373:A158T;ENSP00000450590:A158T;ENSP00000452352:A135T;ENSP00000452349:A88T;ENSP00000450469:A88T;ENSP00000450733:A88T;ENSP00000451454:A146T;ENSP00000451284:A88T;ENSP00000396788:A146T;ENSP00000450686:A146T	ENSP00000250373:A158T	A	+	1	0	NFATC4	23908916	1.000000	0.71417	0.915000	0.36163	0.688000	0.40055	1.570000	0.36439	0.804000	0.34136	0.467000	0.42956	GCA		0.667	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		16	84	0	0	0	1	0	16	84				
FBXO7	25793	broad.mit.edu	37	22	32875113	32875113	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875113T>C	ENST00000266087.7	+	2	595	c.268T>C	c.(268-270)Tcc>Ccc	p.S90P	FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	90					cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATACCTTCATCCACAGATTC	0.443																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(268-270)Tcc>Ccc		F-box protein 7							185.0	185.0	185.0					22																	32875113		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32875113T>C	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.268T>C	22.37:g.32875113T>C	ENSP00000266087:p.Ser90Pro					FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000465418.1_3'UTR	p.S90P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			2	595	+			90					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.268T>C	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291808	0.40594	.	.	ENSG00000100225	ENST00000266087	T	0.41065	1.01	5.45	4.41	0.53225	.	0.118284	0.64402	D	0.000011	T	0.29061	0.0722	L	0.42529	1.33	0.80722	D	1	B	0.20368	0.044	B	0.14023	0.01	T	0.13548	-1.0505	10	0.22109	T	0.4	-20.8168	4.9583	0.14054	0.0:0.2026:0.0:0.7974	.	90	Q9Y3I1	FBX7_HUMAN	P	90	ENSP00000266087:S90P	ENSP00000266087:S90P	S	+	1	0	FBXO7	31205113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.616000	0.36933	2.065000	0.61736	0.454000	0.30748	TCC		0.443	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			172	752	0	0	0	1	0	172	752				
GAD1	2571	broad.mit.edu	37	2	171702238	171702238	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702238C>A	ENST00000358196.3	+	9	1440	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	297					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ATAAAGAAAGCTGGGGCTGCA	0.428																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(889-891)gCt>gAt		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						86.0	86.0	86.0					2																	171702238		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702238C>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.890C>A	2.37:g.171702238C>A	ENSP00000350928:p.Ala297Asp						p.A297D	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			9	1440	+			297					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.890C>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149779	0.94645	.	.	ENSG00000128683	ENST00000358196	T	0.50813	0.73	5.75	5.75	0.90469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095833	0.64402	D	0.000001	T	0.77778	0.4181	M	0.92317	3.295	0.80722	D	1	D	0.63880	0.993	D	0.78314	0.991	T	0.82392	-0.0480	10	0.72032	D	0.01	-12.1275	19.9662	0.97271	0.0:1.0:0.0:0.0	.	297	Q99259	DCE1_HUMAN	D	297	ENSP00000350928:A297D	ENSP00000350928:A297D	A	+	2	0	GAD1	171410484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.701000	0.92244	0.650000	0.86243	GCT		0.428	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			8	400	1	0	0.335167	1	0.335247	8	400				
ARID1B	57492	broad.mit.edu	37	6	157525014	157525014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157525014T>C	ENST00000350026.5	+	18	4871	c.4870T>C	c.(4870-4872)Tgg>Cgg	p.W1624R	ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W1637R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1624					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCTGAGGCGTGGCGTGTGAT	0.403																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4909-4911)Tgg>Cgg		AT rich interactive domain 1B (SWI1-like)							538.0	542.0	541.0					6																	157525014		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525014T>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4870T>C	6.37:g.157525014T>C	ENSP00000055163:p.Trp1624Arg					ARID1B_ENST00000350026.5_Missense_Mutation_p.W1624R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R	p.W1637R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	4910	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1624					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4909T>C	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288410	0.59976	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.03386	4.36;4.4;4.33;4.37;3.95	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.01084	-1.1457	10	0.87932	D	0	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	1624;1637;1619	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1637;1624;1677;1619;1146	ENSP00000344546:W1637R;ENSP00000055163:W1624R;ENSP00000356116:W1677R;ENSP00000275248:W1619R;ENSP00000412835:W1146R	ENSP00000275248:W1619R	W	+	1	0	ARID1B	157566706	1.000000	0.71417	0.924000	0.36721	0.897000	0.52465	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	TGG		0.403	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		434	1776	0	0	0	1	0	434	1776				
ATP5A1	498	broad.mit.edu	37	18	43669626	43669626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669626G>A	ENST00000398752.6	-	5	677	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	ATP5A1_ENST00000593152.2_Missense_Mutation_p.R136W|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R164W|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R186W	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	186					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATTGGTTCCCGCACTGAAATT	0.478																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(406-408)Cgg>Tgg		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							65.0	62.0	63.0					18																	43669626		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43669626G>A	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.556C>T	18.37:g.43669626G>A	ENSP00000381736:p.Arg186Trp					ATP5A1_ENST00000398752.6_Missense_Mutation_p.R186W|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R186W|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R164W	p.R136W	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			5	945	-			186					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.406C>T	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848400	0.71603	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.81821	-1.54;-1.54	5.16	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.87827	2.91	0.54753	D	0.999984	D	0.60160	0.987	P	0.48952	0.596	D	0.86904	0.2056	10	0.87932	D	0	-3.2527	13.0158	0.58757	0.0:0.0:0.575:0.425	.	186	P25705	ATPA_HUMAN	W	186;186;136	ENSP00000282050:R186W;ENSP00000381736:R186W	ENSP00000282050:R186W	R	-	1	2	ATP5A1	41923624	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.322000	0.43814	0.546000	0.28920	0.563000	0.77884	CGG		0.478	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		8	365	0	0	0	1	0	8	365				
RAB29	8934	broad.mit.edu	37	1	205739556	205739556	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205739556T>G	ENST00000367139.3	-	6	829	c.526A>C	c.(526-528)Aat>Cat	p.N176H	RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		176					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCTGTGGAATTTCTCATCATC	0.408																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(526-528)Aat>Cat		RAB7, member RAS oncogene family-like 1							101.0	96.0	98.0					1																	205739556		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205739556T>G																												ENST00000367139.3:c.526A>C	1.37:g.205739556T>G	ENSP00000356107:p.Asn176His					RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H	p.N176H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		6	829	-	Breast(84;0.0799)		176					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.526A>C	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280869	0.40394	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.80123	-1.34;-1.34;-0.66;-1.34;-1.34	5.39	4.23	0.50019	.	0.310723	0.34959	N	0.003548	T	0.67961	0.2949	L	0.49256	1.55	0.30130	N	0.804901	P;B	0.46277	0.875;0.008	B;B	0.31751	0.135;0.01	T	0.68800	-0.5313	10	0.48119	T	0.1	-10.795	7.2088	0.25921	0.1446:0.0:0.1509:0.7045	.	152;176	B4E1K3;O14966	.;RAB7L_HUMAN	H	176;176;104;152;176	ENSP00000356107:N176H;ENSP00000235932:N176H;ENSP00000416613:N104H;ENSP00000389899:N152H;ENSP00000402910:N176H	ENSP00000235932:N176H	N	-	1	0	RAB7L1	204006179	0.999000	0.42202	0.992000	0.48379	0.985000	0.73830	2.339000	0.43965	0.931000	0.37242	0.533000	0.62120	AAT		0.408	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			34	247	0	0	0	1	0	34	247				
DDB1	1642	broad.mit.edu	37	11	61068395	61068395	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068395G>T	ENST00000301764.7	-	26	3622	c.3225C>A	c.(3223-3225)tcC>tcA	p.S1075S	DDB1_ENST00000538470.1_Silent_p.S122S|DDB1_ENST00000450997.2_Silent_p.S386S|DDB1_ENST00000451943.2_Silent_p.S62S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1075	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGTGTGAAAGGATCTCCAGG	0.502								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3223-3225)tcC>tcA	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							160.0	139.0	146.0					11																	61068395		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61068395G>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3225C>A	11.37:g.61068395G>T						DDB1_ENST00000538470.1_Silent_p.S122S|DDB1_ENST00000451943.2_Silent_p.S62S|DDB1_ENST00000450997.2_Silent_p.S386S	p.S1075S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			26	3622	-			1075			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.3225C>A	CCDS31576.1																																																																																				0.502	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		10	315	1	0	6.42651e-13	1	6.92124e-13	10	315				
ABCD2	225	broad.mit.edu	37	12	40012798	40012798	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40012798T>C	ENST00000308666.3	-	1	755	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	207	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGAGATTGGTCAGGGTTTGC	0.413																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(619-621)gAc>gGc		ATP-binding cassette, sub-family D (ALD), member 2							117.0	110.0	112.0					12																	40012798		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012798T>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.620A>G	12.37:g.40012798T>C	ENSP00000310688:p.Asp207Gly						p.D207G	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	755	-			207			ABC transmembrane type-1.|Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.620A>G	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729406	0.69074	.	.	ENSG00000173208	ENST00000308666	D	0.99874	-7.39	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96107	0.9074	9	.	.	.	-9.2221	14.6449	0.68754	0.0:0.0:0.0:1.0	.	207	Q9UBJ2	ABCD2_HUMAN	G	207	ENSP00000310688:D207G	.	D	-	2	0	ABCD2	38299065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.517000	0.81783	1.849000	0.53698	0.455000	0.32223	GAC		0.413	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		129	491	0	0	0	1	0	129	491				
GRM5	2915	broad.mit.edu	37	11	88300355	88300355	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300355G>A	ENST00000305447.4	-	7	2645	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	GRM5_ENST00000305432.5_Silent_p.N832N|GRM5_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000455756.2_Silent_p.N832N|GRM5_ENST00000418177.2_Silent_p.N832N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	832					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CGCTGCGCACGTTTCTCTCTG	0.567																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2494-2496)aaC>aaT		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						139.0	108.0	118.0					11																	88300355		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300355G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2496C>T	11.37:g.88300355G>A						GRM5_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000305432.5_Silent_p.N832N|GRM5_ENST00000305447.4_Silent_p.N832N|GRM5_ENST00000455756.2_Silent_p.N832N	p.N832N			P41594	GRM5_HUMAN			8	2863	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	832					Q6J164	Silent	SNP	ENST00000305447.4	37	c.2496C>T	CCDS44694.1																																																																																				0.567	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		74	285	0	0	0	1	0	74	285				
TXNDC2	84203	broad.mit.edu	37	18	9886595	9886595	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9886595T>C	ENST00000306084.6	+	2	318	c.119T>C	c.(118-120)tTa>tCa	p.L40S	TXNDC2_ENST00000357775.5_5'UTR|TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	40					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GAAAGCTCATTACTAGTCCTG	0.398																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(118-120)tTa>tCa		thioredoxin domain containing 2 (spermatozoa)							50.0	50.0	50.0					18																	9886595		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886595T>C	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.119T>C	18.37:g.9886595T>C	ENSP00000304908:p.Leu40Ser					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_5'UTR|TXNDC2_ENST00000584255.1_Missense_Mutation_p.Y58H|TXNDC2_ENST00000536353.2_5'UTR	p.L40S	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	318	+			40					A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.119T>C	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.261827	0.23051	.	.	ENSG00000168454	ENST00000306084;ENST00000426718	T	0.16897	2.31	3.99	2.8	0.32819	.	.	.	.	.	T	0.17704	0.0425	L	0.32530	0.975	0.09310	N	0.999997	D	0.62365	0.991	P	0.51297	0.665	T	0.08827	-1.0703	8	.	.	.	-4.0932	6.4832	0.22075	0.0:0.1115:0.0:0.8885	.	40	Q86VQ3	TXND2_HUMAN	S	40	ENSP00000304908:L40S	.	L	+	2	0	TXNDC2	9876595	0.041000	0.20044	0.027000	0.17364	0.031000	0.12232	1.945000	0.40273	0.859000	0.35456	0.460000	0.39030	TTA		0.398	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			52	215	0	0	0	1	0	52	215				
GPR143	4935	broad.mit.edu	37	X	9728834	9728834	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9728834A>G	ENST00000467482.1	-	2	429	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L	GPR143_ENST00000380929.2_Missense_Mutation_p.F115L			P51810	GP143_HUMAN	G protein-coupled receptor 143	95					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAATTTGGGAATCCTAACCAC	0.473																																						ENST00000467482.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(283-285)Ttc>Ctc		G protein-coupled receptor 143							90.0	66.0	74.0					X																	9728834		2203	4296	6499	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9728834A>G	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.283T>C	X.37:g.9728834A>G	ENSP00000417161:p.Phe95Leu					GPR143_ENST00000380929.2_Missense_Mutation_p.F115L	p.F95L			P51810	GP143_HUMAN			2	429	-		Hepatocellular(5;0.000888)	95					Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.283T>C	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.535|4.535	0.099280|0.099280	0.08681|0.08681	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99207|.	-5.56;-5.56;-5.56|.	4.47|4.47	3.28|3.28	0.37604|0.37604	.|.	0.318281|.	0.34484|.	N|.	0.003924|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.47716|0.47716	1.5|1.5	0.20307|0.20307	N|N	0.999918|0.999918	B|.	0.13145|.	0.007|.	B|.	0.16289|.	0.015|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.08599|.	T|.	0.76|.	-5.3468|-5.3468	8.229|8.229	0.31587|0.31587	0.8989:0.0:0.1011:0.0|0.8989:0.0:0.1011:0.0	.|.	95|.	P51810|.	GP143_HUMAN|.	L|T	95;115;11|30	ENSP00000417161:F95L;ENSP00000370316:F115L;ENSP00000406138:F11L|.	ENSP00000370316:F115L|.	F|I	-|-	1|2	0|0	GPR143|GPR143	9688834|9688834	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.019000|0.019000	0.09904|0.09904	3.591000|3.591000	0.53986|0.53986	0.427000|0.427000	0.26145|0.26145	0.380000|0.380000	0.24917|0.24917	TTC|ATT		0.473	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		8	34	0	0	0	1	0	8	34				
KCNH4	23415	broad.mit.edu	37	17	40318495	40318495	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318495G>T	ENST00000264661.3	-	10	1992	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	554					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAACGGCAGCTGCAGGATC	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1660-1662)Ctg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 4							46.0	38.0	41.0					17																	40318495		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318495G>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1660C>A	17.37:g.40318495G>T	ENSP00000264661:p.Leu554Met					KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	p.L554M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1992	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	554						Missense_Mutation	SNP	ENST00000264661.3	37	c.1660C>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120584	0.77323	.	.	ENSG00000089558	ENST00000264661	D	0.96940	-4.18	4.2	3.19	0.36642	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.31461	N	0.007619	D	0.97445	0.9164	M	0.74881	2.28	0.50632	D	0.999889	D	0.89917	1.0	D	0.91635	0.999	D	0.96949	0.9693	10	0.52906	T	0.07	.	12.2967	0.54852	0.0851:0.0:0.9149:0.0	.	554	Q9UQ05	KCNH4_HUMAN	M	554	ENSP00000264661:L554M	ENSP00000264661:L554M	L	-	1	2	KCNH4	37572021	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.745000	0.62125	2.182000	0.69389	0.563000	0.77884	CTG		0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		11	230	1	0	0.00829132	1	0.00834067	11	230				
USP36	57602	broad.mit.edu	37	17	76799818	76799818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76799818G>A	ENST00000542802.3	-	16	2902	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Missense_Mutation_p.P820L			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	820					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCCTCTGCGGCTCTCCCAC	0.622																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2458-2460)cCg>cTg		ubiquitin specific peptidase 36							24.0	29.0	28.0					17																	76799818		2165	4269	6434	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76799818G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2459C>T	17.37:g.76799818G>A	ENSP00000441214:p.Pro820Leu					USP36_ENST00000449938.2_Intron|USP36_ENST00000542802.2_Missense_Mutation_p.P820L	p.P820L	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	2783	-			820					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.2459C>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	7.663	0.685435	0.14973	.	.	ENSG00000055483	ENST00000312010;ENST00000542802	T;T	0.06608	3.28;3.28	5.19	-2.67	0.06059	.	2.273500	0.01508	N	0.017791	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40739	-0.9547	10	0.27785	T	0.31	.	8.3188	0.32117	0.1328:0.0:0.6159:0.2513	.	820;820	Q9P275;Q9P275-2	UBP36_HUMAN;.	L	820	ENSP00000310590:P820L;ENSP00000441214:P820L	ENSP00000310590:P820L	P	-	2	0	USP36	74311413	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.705000	0.01896	-0.311000	0.08754	-0.254000	0.11334	CCG		0.622	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		36	256	0	0	0	1	0	36	256				
CTTNBP2NL	55917	broad.mit.edu	37	1	112998846	112998846	+	Silent	SNP	C	C	T	rs551998213		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112998846C>T	ENST00000271277.6	+	6	957	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	244					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTTGACATCGAAAGGGAAC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.0					ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(730-732)atC>atT		CTTNBP2 N-terminal like							93.0	104.0	100.0					1																	112998846		2203	4300	6503	SO:0001819	synonymous_variant	55917					actin cytoskeleton	protein binding	g.chr1:112998846C>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.732C>T	1.37:g.112998846C>T							p.I244I	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	957	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	244					B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	c.732C>T	CCDS845.1																																																																																				0.463	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		15	382	0	0	0	1	0	15	382				
OR13G1	441933	broad.mit.edu	37	1	247835608	247835608	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835608T>C	ENST00000359688.2	-	1	757	c.736A>G	c.(736-738)Acc>Gcc	p.T246A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGTAAAGGGTCACCACTGTG	0.448																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(736-738)Acc>Gcc		olfactory receptor, family 13, subfamily G, member 1							161.0	138.0	146.0					1																	247835608		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835608T>C	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.736A>G	1.37:g.247835608T>C	ENSP00000352717:p.Thr246Ala					RP11-634B7.4_ENST00000449298.1_RNA	p.T246A	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	757	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		246					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.736A>G	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	T	2.562	-0.301627	0.05495	.	.	ENSG00000197437	ENST00000359688	T	0.38560	1.13	4.2	-1.62	0.08372	GPCR, rhodopsin-like superfamily (1);	0.530450	0.15888	N	0.239683	T	0.25865	0.0630	L	0.38953	1.18	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14924	-1.0455	10	0.27785	T	0.31	-38.9238	5.6071	0.17385	0.4267:0.143:0.0:0.4303	.	246	Q8NGZ3	O13G1_HUMAN	A	246	ENSP00000352717:T246A	ENSP00000352717:T246A	T	-	1	0	OR13G1	245902231	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-0.086000	0.11233	-0.381000	0.07882	-0.445000	0.05633	ACC		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		125	289	0	0	0	1	0	125	289				
ATP1A3	478	broad.mit.edu	37	19	42482344	42482344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42482344C>T	ENST00000302102.5	-	13	1915	c.1765G>A	c.(1765-1767)Gtc>Atc	p.V589I	ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V602I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	589					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCGTCAGGGACGGCTGCCCGG	0.652																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(1804-1806)Gtc>Atc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							61.0	59.0	60.0					19																	42482344		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42482344C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1765G>A	19.37:g.42482344C>T	ENSP00000302397:p.Val589Ile					ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V589I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I	p.V602I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			13	1957	-			589					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1804G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167298	0.94768	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	T;D;T;T	0.96168	-1.36;-3.93;-1.36;-1.36	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.997;0.987	D;P;P;P	0.76575	0.988;0.582;0.829;0.706	D	0.98091	1.0409	10	0.87932	D	0	.	14.9849	0.71339	0.0:1.0:0.0:0.0	.	602;600;589;589	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	589;589;602;559;333;600	ENSP00000302397:V589I;ENSP00000411503:V589I;ENSP00000444688:V602I;ENSP00000437577:V600I	ENSP00000302397:V589I	V	-	1	0	ATP1A3	47174184	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.554000	0.82212	2.478000	0.83669	0.561000	0.74099	GTC		0.652	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		48	226	0	0	0	1	0	48	226				
ZNF665	79788	broad.mit.edu	37	19	53669537	53669537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53669537G>A	ENST00000600412.1	-	2	126	c.11C>T	c.(10-12)gCg>gTg	p.A4V	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CGTGTAGAACGCTTCTCCCAT	0.408																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(10-12)gCg>gTg		zinc finger protein 665							230.0	227.0	228.0					19																	53669537		1944	4157	6101	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669537G>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.11C>T	19.37:g.53669537G>A	ENSP00000469154:p.Ala4Val					ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V	p.A4V			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	126	-			4					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.11C>T		.	.	.	.	.	.	.	.	.	.	G	0.415	-0.911452	0.02434	.	.	ENSG00000197497	ENST00000396424	T	0.05081	3.5	1.85	0.809	0.18725	.	.	.	.	.	T	0.01695	0.0054	N	0.00841	-1.15	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.48525	-0.9028	9	0.11794	T	0.64	.	5.9136	0.19041	0.8463:0.0:0.1537:0.0	.	69	Q9H7R5-2	.	V	69	ENSP00000379702:A69V	ENSP00000379702:A69V	A	-	2	0	ZNF665	58361349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	0.189000	0.20188	-0.436000	0.05848	GCG		0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		95	1071	0	0	0	1	0	95	1071				
DUOX1	53905	broad.mit.edu	37	15	45455749	45455749	+	Missense_Mutation	SNP	C	C	T	rs140681354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455749C>T	ENST00000321429.4	+	33	4675	c.4268C>T	c.(4267-4269)aCg>aTg	p.T1423M	DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M|DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1423					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTGGGTGACGCGGACCCAG	0.562											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4267-4269)aCg>aTg		dual oxidase 1		C	MET/THR,MET/THR	2,4394	4.2+/-10.8	0,2,2196	99.0	90.0	93.0		4268,4268	4.4	1.0	15	dbSNP_134	93	0,8596		0,0,4298	yes	missense,missense	DUOX1	NM_017434.3,NM_175940.1	81,81	0,2,6494	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging,probably-damaging	1423/1552,1423/1552	45455749	2,12990	2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455749C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4268C>T	15.37:g.45455749C>T	ENSP00000317997:p.Thr1423Met		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M|DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.T1423M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4675	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1423					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4268C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487713	0.84854	4.55E-4	0.0	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95342	-3.68;-3.68	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98119	1.0424	10	0.87932	D	0	-10.2487	14.4383	0.67298	0.0:1.0:0.0:0.0	.	1423	Q9NRD9	DUOX1_HUMAN	M	1423	ENSP00000317997:T1423M;ENSP00000373689:T1423M	ENSP00000317997:T1423M	T	+	2	0	DUOX1	43243041	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	5.894000	0.69806	2.243000	0.73865	0.491000	0.48974	ACG		0.562	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		45	270	0	0	0	1	0	45	270				
DPP4	1803	broad.mit.edu	37	2	162862277	162862277	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162862277T>G	ENST00000360534.3	-	23	2590	c.2030A>C	c.(2029-2031)gAa>gCa	p.E677A	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	677					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AAGGTTGTCTTCTGGAGTTGG	0.318																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(2029-2031)gAa>gCa		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						105.0	99.0	101.0					2																	162862277		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162862277T>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2030A>C	2.37:g.162862277T>G	ENSP00000353731:p.Glu677Ala					DPP4_ENST00000491591.1_5'UTR	p.E677A	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			23	2590	-			677					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.2030A>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942857	0.34283	.	.	ENSG00000197635	ENST00000360534	T	0.31247	1.5	5.99	5.99	0.97316	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.560335	0.20171	N	0.097723	T	0.20292	0.0488	N	0.16790	0.44	0.35475	D	0.797671	B	0.06786	0.001	B	0.12837	0.008	T	0.21075	-1.0256	10	0.27082	T	0.32	-27.9427	12.3179	0.54969	0.0:0.0674:0.0:0.9326	.	677	P27487	DPP4_HUMAN	A	677	ENSP00000353731:E677A	ENSP00000353731:E677A	E	-	2	0	DPP4	162570523	0.941000	0.31946	1.000000	0.80357	0.884000	0.51177	0.838000	0.27572	2.296000	0.77279	0.533000	0.62120	GAA		0.318	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			30	131	0	0	0	1	0	30	131				
QSER1	79832	broad.mit.edu	37	11	32987888	32987888	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32987888C>T	ENST00000399302.2	+	9	4960	c.4625C>T	c.(4624-4626)aCa>aTa	p.T1542I	QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1542										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTTTGAACACAAGAGCAATG	0.408																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(4624-4626)aCa>aTa		glutamine and serine rich 1							124.0	117.0	119.0					11																	32987888		1839	4086	5925	SO:0001583	missense	79832							g.chr11:32987888C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4625C>T	11.37:g.32987888C>T	ENSP00000382241:p.Thr1542Ile					QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	p.T1542I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			9	4960	+	Breast(20;0.158)		1542					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4625C>T	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.001792|5.001792	0.93227|0.93227	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.50001	.|0.76;0.76	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	.|T	.|0.68586	.|0.3017	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.997;0.999	.|T	.|0.70230	.|-0.4929	.|10	.|0.87932	.|D	.|0	.|.	19.6126|19.6126	0.95616|0.95616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1303;1303;1542	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	X|I	563|1542;1303;1303	.|ENSP00000382241:T1542I;ENSP00000432766:T1303I	.|ENSP00000078652:T1303I	Q|T	+|+	1|2	0|0	QSER1|QSER1	32944464|32944464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.980000|6.980000	0.76160|0.76160	2.630000|2.630000	0.89119|0.89119	0.591000|0.591000	0.81541|0.81541	CAA|ACA		0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		86	412	0	0	0	1	0	86	412				
SEC16A	9919	broad.mit.edu	37	9	139357393	139357393	+	Silent	SNP	C	C	T	rs370873951		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139357393C>T	ENST00000371706.3	-	10	4338	c.4305G>A	c.(4303-4305)tcG>tcA	p.S1435S	SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000313050.7_Silent_p.S1613S|SEC16A_ENST00000431893.2_Silent_p.S1435S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1435					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTCTCTCGAGCGAGCTGGCGG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16568	0.0		0.0	False		,,,				2504	0.001					ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4837-4839)tcG>tcA		SEC16 homolog A (S. cerevisiae)		C		0,4076		0,0,2038	46.0	55.0	52.0		4839	-9.6	0.0	9		52	1,8353		0,1,4176	no	coding-synonymous	SEC16A	NM_014866.1		0,1,6214	TT,TC,CC		0.012,0.0,0.0080		1613/2358	139357393	1,12429	2038	4177	6215	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139357393C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4305G>A	9.37:g.139357393C>T						SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000371706.3_Silent_p.S1435S|SEC16A_ENST00000431893.2_Silent_p.S1435S	p.S1613S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	10	4912	-		Myeloproliferative disorder(178;0.0511)	1435					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.4839G>A																																																																																					0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		66	313	0	0	0	1	0	66	313				
H2BFM	286436	broad.mit.edu	37	X	103294830	103294830	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103294830T>A	ENST00000355016.3	+	1	315	c.287T>A	c.(286-288)aTc>aAc	p.I96N	H2BFM_ENST00000243297.5_Missense_Mutation_p.I199N	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	96						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						TTGGACCGCATCGCCACCGAG	0.602																																						ENST00000243297.5																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(595-597)aTc>aAc		H2B histone family, member M							25.0	26.0	25.0					X																	103294830		692	1591	2283	SO:0001583	missense	286436							g.chrX:103294830T>A	AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.287T>A	X.37:g.103294830T>A	ENSP00000347119:p.Ile96Asn					H2BFM_ENST00000355016.3_Missense_Mutation_p.I96N	p.I199N							3	596	+								A6NP82	Missense_Mutation	SNP	ENST00000355016.3	37	c.596T>A	CCDS55468.1	.	.	.	.	.	.	.	.	.	.	.	16.55	3.154766	0.57259	.	.	ENSG00000101812	ENST00000243297;ENST00000355016	T;T	0.46819	0.86;0.86	2.66	2.66	0.31614	Histone-fold (2);Histone core (1);	0.000000	0.37955	U	0.001878	T	0.70439	0.3224	M	0.91406	3.205	0.46542	D	0.999095	D	0.69078	0.997	D	0.83275	0.996	T	0.73867	-0.3847	10	0.87932	D	0	.	8.3523	0.32310	0.0:0.0:0.0:1.0	.	199	P0C1H6	H2BFM_HUMAN	N	199;96	ENSP00000243297:I199N;ENSP00000347119:I96N	ENSP00000243297:I199N	I	+	2	0	H2BFM	103181486	1.000000	0.71417	0.017000	0.16124	0.009000	0.06853	4.791000	0.62460	1.135000	0.42183	0.422000	0.28245	ATC		0.602	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057758.2	XM_210048		12	40	0	0	0	1	0	12	40				
STKLD1	169436	broad.mit.edu	37	9	136245957	136245957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136245957G>T	ENST00000371957.3	+	2	245	c.138G>T	c.(136-138)gaG>gaT	p.E46D	SURF4_ENST00000485435.2_5'Flank|C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|SURF4_ENST00000371989.3_5'Flank|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGTGGTGGAGGAAATGGAAA	0.498																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(136-138)gaG>gaT		chromosome 9 open reading frame 96							124.0	102.0	110.0					9																	136245957		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136245957G>T																												ENST00000371957.3:c.138G>T	9.37:g.136245957G>T	ENSP00000361025:p.Glu46Asp					C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000371955.1_5'UTR	p.E46D	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	2	245	+			46			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.138G>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248659	0.39797	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.19938	2.11;2.11	3.89	-1.63	0.08345	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129615	0.31697	U	0.007216	T	0.24236	0.0587	L	0.58669	1.825	0.35834	D	0.825527	D	0.54601	0.967	P	0.50860	0.652	T	0.15009	-1.0452	10	0.48119	T	0.1	-16.8237	7.7812	0.29066	0.5057:0.0:0.4943:0.0	.	46	Q8NE28	SGK71_HUMAN	D	46	ENSP00000398807:E46D;ENSP00000361025:E46D	ENSP00000361025:E46D	E	+	3	2	C9orf96	135235778	0.013000	0.17824	0.249000	0.24280	0.516000	0.34256	0.394000	0.20834	-0.571000	0.06014	-0.657000	0.03884	GAG		0.498	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			9	221	1	0	2.17888e-05	1	2.22852e-05	9	221				
ENPP7	339221	broad.mit.edu	37	17	77708906	77708906	+	Missense_Mutation	SNP	C	C	T	rs376880357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77708906C>T	ENST00000328313.5	+	3	685	c.464C>T	c.(463-465)aCg>aTg	p.T155M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTGGCTGTGACGCGGAGCCGG	0.592																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(463-465)aCg>aTg		ectonucleotide pyrophosphatase/phosphodiesterase 7		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	62.0	51.0	55.0		464	4.0	0.8	17		55	0,8600		0,0,4300	no	missense	ENPP7	NM_178543.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	155/459	77708906	1,13005	2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77708906C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.464C>T	17.37:g.77708906C>T	ENSP00000332656:p.Thr155Met						p.T155M	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	685	+			155						Missense_Mutation	SNP	ENST00000328313.5	37	c.464C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924791	0.18056	2.27E-4	0.0	ENSG00000182156	ENST00000328313	T	0.73152	-0.72	5.0	3.98	0.46160	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.685970	0.03101	N	0.161042	T	0.78027	0.4219	M	0.84156	2.68	0.09310	N	1	P	0.44478	0.836	P	0.44623	0.455	T	0.62845	-0.6768	10	0.44086	T	0.13	-9.8491	9.2231	0.37388	0.3944:0.4916:0.114:0.0	.	155	Q6UWV6	ENPP7_HUMAN	M	155	ENSP00000332656:T155M	ENSP00000332656:T155M	T	+	2	0	ENPP7	75323501	0.005000	0.15991	0.848000	0.33437	0.200000	0.23975	1.814000	0.38972	2.308000	0.77769	0.591000	0.81541	ACG		0.592	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		7	343	0	0	0	1	0	7	343				
ZKSCAN8	7745	broad.mit.edu	37	6	28117327	28117327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28117327G>T	ENST00000330236.6	+	3	668	c.484G>T	c.(484-486)Gag>Tag	p.E162*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.E162*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATCTGCACCAGAGCCTCCAAA	0.478																																						ENST00000330236.6																			0											c.(484-486)Gag>Tag		zinc finger with KRAB and SCAN domains 8							146.0	131.0	136.0					6																	28117327		2203	4300	6503	SO:0001587	stop_gained	0							g.chr6:28117327G>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.484G>T	6.37:g.28117327G>T	ENSP00000332750:p.Glu162*					ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.E162*	p.E162*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					3	668	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Nonsense_Mutation	SNP	ENST00000330236.6	37	c.484G>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680980	0.96774	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	4.27	3.4	0.38934	.	0.276731	0.25464	N	0.030496	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	7.2943	0.26385	0.2095:0.0:0.7905:0.0	.	.	.	.	X	162	.	ENSP00000332750:E162X	E	+	1	0	ZNF192	28225306	0.004000	0.15560	0.335000	0.25508	0.933000	0.57130	0.669000	0.25142	1.113000	0.41760	0.563000	0.77884	GAG		0.478	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			68	322	1	0	1.50372e-20	1	1.68596e-20	68	322				
EPN1	29924	broad.mit.edu	37	19	56204384	56204384	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56204384G>A	ENST00000270460.6	+	9	1556	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Silent_p.P501P|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000085079.7_Silent_p.P389P	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	415	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGGCACTGCCGACCTCCGGGA	0.677																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1501-1503)ccG>ccA		epsin 1							59.0	72.0	68.0					19																	56204384		2090	4217	6307	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56204384G>A	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1245G>A	19.37:g.56204384G>A						EPN1_ENST00000085079.7_Silent_p.P389P|EPN1_ENST00000270460.6_Silent_p.P415P	p.P501P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	9	2050	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	415			Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.1503G>A	CCDS46199.1																																																																																				0.677	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		122	542	0	0	0	1	0	122	542				
SLC12A7	10723	broad.mit.edu	37	5	1084037	1084037	+	Missense_Mutation	SNP	G	G	A	rs373980691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1084037G>A	ENST00000264930.5	-	8	995	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	318					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCGAAGCTGCGCCGTGACAGC	0.682																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(952-954)Cgc>Tgc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	67.0	62.0	64.0		952	3.7	0.0	5		64	0,8600		0,0,4300	no	missense	SLC12A7	NM_006598.2	180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	318/1084	1084037	1,12999	2200	4300	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1084037G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.952C>T	5.37:g.1084037G>A	ENSP00000264930:p.Arg318Cys						p.R318C	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	995	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		318					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.952C>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412562	0.42817	2.27E-4	0.0	ENSG00000113504	ENST00000264930	T	0.62941	-0.01	3.68	3.68	0.42216	.	0.203944	0.45361	D	0.000371	T	0.59756	0.2217	M	0.67953	2.075	0.09310	N	0.999996	P	0.44521	0.837	B	0.42522	0.39	T	0.58440	-0.7636	10	0.56958	D	0.05	.	9.8471	0.41034	0.0:0.0:0.7946:0.2054	.	318	Q9Y666	S12A7_HUMAN	C	318	ENSP00000264930:R318C	ENSP00000264930:R318C	R	-	1	0	SLC12A7	1137037	0.002000	0.14202	0.011000	0.14972	0.065000	0.16274	1.214000	0.32419	1.768000	0.52137	0.478000	0.44815	CGC		0.682	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		50	219	0	0	0	1	0	50	219				
XDH	7498	broad.mit.edu	37	2	31624144	31624144	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31624144A>G	ENST00000379416.3	-	4	296	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	83	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGTCACTGCAACATGGTGCAA	0.507																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(247-249)gTt>gCt		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						109.0	81.0	90.0					2																	31624144		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31624144A>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.248T>C	2.37:g.31624144A>G	ENSP00000368727:p.Val83Ala						p.V83A	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			4	296	-	Acute lymphoblastic leukemia(172;0.155)		83			2Fe-2S ferredoxin-type.		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.248T>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.256555	0.00265	.	.	ENSG00000158125	ENST00000379416	T	0.21031	2.03	6.07	2.41	0.29592	Xanthine dehydrogenase, small subunit (1);Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.716909	0.14120	N	0.340128	T	0.03263	0.0095	N	0.00094	-2.165	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40459	-0.9562	10	0.02654	T	1	.	8.6268	0.33895	0.7144:0.0:0.2856:0.0	.	83	P47989	XDH_HUMAN	A	83	ENSP00000368727:V83A	ENSP00000368727:V83A	V	-	2	0	XDH	31477648	0.096000	0.21769	0.003000	0.11579	0.002000	0.02628	2.968000	0.49224	0.179000	0.19938	-0.256000	0.11100	GTT		0.507	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		16	264	0	0	0	1	0	16	264				
H2AFY2	55506	broad.mit.edu	37	10	71851615	71851615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71851615C>A	ENST00000373255.4	+	4	646	c.382C>A	c.(382-384)Ctc>Atc	p.L128I		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	128	Lys-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGAAACGATCCTCTCCCCACC	0.577																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(382-384)Ctc>Atc		H2A histone family, member Y2							91.0	78.0	82.0					10																	71851615		2203	4300	6503	SO:0001583	missense	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71851615C>A	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.382C>A	10.37:g.71851615C>A	ENSP00000362352:p.Leu128Ile						p.L128I	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			4	646	+			128			Lys-rich.		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	c.382C>A	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250032	0.22880	.	.	ENSG00000099284	ENST00000373255	T	0.21932	1.98	5.85	5.85	0.93711	.	0.171146	0.52532	D	0.000065	T	0.13841	0.0335	N	0.16743	0.435	0.46823	D	0.999214	B	0.14438	0.01	B	0.06405	0.002	T	0.09271	-1.0682	10	0.02654	T	1	-2.6828	20.1574	0.98116	0.0:1.0:0.0:0.0	.	128	Q9P0M6	H2AW_HUMAN	I	128	ENSP00000362352:L128I	ENSP00000362352:L128I	L	+	1	0	H2AFY2	71521621	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.616000	0.67709	2.941000	0.99782	0.655000	0.94253	CTC		0.577	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		36	272	1	0	8.73648e-17	1	9.61379e-17	36	272				
TTLL8	164714	broad.mit.edu	37	22	50480200	50480200	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50480200G>A	ENST00000266182.6	-	7	679	c.680C>T	c.(679-681)cCg>cTg	p.P227L	TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	263	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		AAGCTGCCCCGGGAGGCCCCT	0.632																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(679-681)cCg>cTg		tubulin tyrosine ligase-like family, member 8							37.0	39.0	38.0					22																	50480200		2093	4217	6310	SO:0001583	missense	164714							g.chr22:50480200G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.680C>T	22.37:g.50480200G>A	ENSP00000266182:p.Pro227Leu					TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L	p.P227L						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	7	679	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.680C>T		.	.	.	.	.	.	.	.	.	.	G	14.72	2.618531	0.46736	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.54479	3.53;0.57;0.57	4.66	4.66	0.58398	.	0.667620	0.12772	N	0.440413	T	0.60418	0.2267	L	0.61036	1.89	0.09310	N	0.999999	D	0.71674	0.998	P	0.49597	0.616	T	0.55405	-0.8146	10	0.37606	T	0.19	.	16.4517	0.83993	0.0:0.0:1.0:0.0	.	227	B5MDV0	.	L	227;227;263	ENSP00000266182:P227L;ENSP00000387509:P227L;ENSP00000392252:P263L	ENSP00000266182:P227L	P	-	2	0	TTLL8	48822327	0.859000	0.29813	0.005000	0.12908	0.006000	0.05464	1.942000	0.40243	2.406000	0.81754	0.484000	0.47621	CCG		0.632	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		14	59	0	0	0	1	0	14	59				
UTP20	27340	broad.mit.edu	37	12	101760367	101760367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101760367C>T	ENST00000261637.4	+	47	6331	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2053					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGATCCACGTCTACCACCCCA	0.502																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6157-6159)Cta>Tta		UTP20, small subunit (SSU) processome component, homolog (yeast)							181.0	156.0	165.0					12																	101760367		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101760367C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6157C>T	12.37:g.101760367C>T							p.L2053L	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			47	6331	+			2053					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6157C>T	CCDS9081.1																																																																																				0.502	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		117	579	0	0	0	1	0	117	579				
MAGEE1	57692	broad.mit.edu	37	X	75648934	75648934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTACACCTGGTGAGGGA	0.687																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(610-612)cCt>cTt		melanoma antigen family E, 1							24.0	20.0	21.0					X																	75648934		2197	4293	6490	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648934C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.611C>T	X.37:g.75648934C>T	ENSP00000354912:p.Pro204Leu						p.P204L	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	889	+			204			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.611C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154579	0.06544	.	.	ENSG00000198934	ENST00000361470	T	0.08984	3.03	2.06	-0.765	0.11023	.	.	.	.	.	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	9	0.14656	T	0.56	.	2.9393	0.05825	0.2359:0.5127:0.0:0.2513	.	204	Q9HCI5	MAGE1_HUMAN	L	204	ENSP00000354912:P204L	ENSP00000354912:P204L	P	+	2	0	MAGEE1	75565338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.217000	0.02979	-0.317000	0.08677	-0.371000	0.07208	CCT		0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		16	123	0	0	0	1	0	16	123				
ENTPD8	377841	broad.mit.edu	37	9	140328737	140328737	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140328737C>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000392815.2_Silent_p.F403F|NOXA1_ENST00000341349.2_Silent_p.F459F			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCAAGTGCTTCGTGGTCCCCG	0.652																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(1375-1377)ttC>ttT		NADPH oxidase activator 1							65.0	72.0	70.0					9																	140328737		2200	4294	6494	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140328737C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140328737C>T						NOXA1_ENST00000392815.2_Silent_p.F403F	p.F459F	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	14	1557	+	all_cancers(76;0.0926)		452		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).			A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.1377C>T	CCDS43913.1																																																																																				0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		165	876	0	0	0	1	0	165	876				
PTPRO	5800	broad.mit.edu	37	12	15739837	15739837	+	Missense_Mutation	SNP	G	G	A	rs141467284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15739837G>A	ENST00000281171.4	+	24	3592	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1088	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAGGCTGACGAGATGCAGGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20263	0.0		0.001	False		,,,				2504	0.0					ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3262-3264)Gag>Aag		protein tyrosine phosphatase, receptor type, O							152.0	137.0	142.0					12																	15739837		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15739837G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3262G>A	12.37:g.15739837G>A	ENSP00000281171:p.Glu1088Lys					PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K	p.E1088K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			24	3592	+		Hepatocellular(102;0.244)	1088			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3262G>A	CCDS8675.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.08	3.298148	0.60086	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.52532	D	0.000075	T	0.75332	0.3835	L	0.35341	1.055	0.58432	D	0.99999	P;D;D	0.60160	0.686;0.987;0.98	B;B;B	0.38056	0.085;0.172;0.264	T	0.80999	-0.1131	10	0.72032	D	0.01	.	18.493	0.90854	0.0:0.0:1.0:0.0	.	249;1060;1088	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	K	1088;1060;277;249;277;249;67	ENSP00000281171:E1088K;ENSP00000343434:E1060K;ENSP00000404188:E277K;ENSP00000437571:E249K;ENSP00000393449:E277K;ENSP00000439234:E249K;ENSP00000446201:E67K	ENSP00000281171:E1088K	E	+	1	0	PTPRO	15631104	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	6.253000	0.72453	2.588000	0.87417	0.650000	0.86243	GAG		0.428	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			73	387	0	0	0	1	0	73	387				
SETD6	79918	broad.mit.edu	37	16	58550529	58550529	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58550529C>A	ENST00000219315.4	+	4	674	c.624C>A	c.(622-624)cgC>cgA	p.R208R	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000394266.4_Silent_p.R139R|SETD6_ENST00000310682.2_Silent_p.R184R			Q8TBK2	SETD6_HUMAN	SET domain containing 6	208	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TCAGGGTTCGCTCCCTAGAAC	0.567																																						ENST00000394266.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(415-417)cgC>cgA		SET domain containing 6							76.0	76.0	76.0					16																	58550529		2198	4300	6498	SO:0001819	synonymous_variant	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58550529C>A	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.624C>A	16.37:g.58550529C>A						SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Silent_p.R184R|SETD6_ENST00000219315.4_Silent_p.R208R	p.R139R			Q8TBK2	SETD6_HUMAN			5	473	+			208			SET.		A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	c.417C>A	CCDS54013.1																																																																																				0.567	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		50	221	1	0	2.27781e-18	1	2.52731e-18	50	221				
PKDREJ	10343	broad.mit.edu	37	22	46655499	46655499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655499G>A	ENST00000253255.5	-	1	3720	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1241	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACCCCCAACGACTTCCTGTA	0.448																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3721-3723)Cgt>Tgt		polycystin (PKD) family receptor for egg jelly							91.0	96.0	94.0					22																	46655499		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655499G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3721C>T	22.37:g.46655499G>A	ENSP00000253255:p.Arg1241Cys						p.R1241C	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3720	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1241			PLAT.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3721C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030850	0.75504	.	.	ENSG00000130943	ENST00000253255	T	0.65364	-0.15	5.04	5.04	0.67666	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000009	D	0.83179	0.5198	M	0.90198	3.095	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.86768	0.1971	10	0.72032	D	0.01	-23.7677	17.7521	0.88438	0.0:0.0:1.0:0.0	.	1241	Q9NTG1	PKDRE_HUMAN	C	1241	ENSP00000253255:R1241C	ENSP00000253255:R1241C	R	-	1	0	PKDREJ	45034163	1.000000	0.71417	0.977000	0.42913	0.735000	0.41995	4.500000	0.60387	2.520000	0.84964	0.561000	0.74099	CGT		0.448	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		109	477	0	0	0	1	0	109	477				
MTNR1B	4544	broad.mit.edu	37	11	92702921	92702921	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92702921C>T	ENST00000257068.2	+	1	36	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	10					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCGCCAACTGCTGCGAGGCGG	0.741																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(28-30)tgC>tgT		melatonin receptor 1B	Ramelteon(DB00980)						7.0	8.0	8.0					11																	92702921		1931	3852	5783	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92702921C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.30C>T	11.37:g.92702921C>T							p.C10C	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			1	36	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	10						Silent	SNP	ENST00000257068.2	37	c.30C>T	CCDS8290.1																																																																																				0.741	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			32	112	0	0	0	1	0	32	112				
NUP155	9631	broad.mit.edu	37	5	37331826	37331826	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37331826T>C	ENST00000231498.3	-	14	1793	c.1590A>G	c.(1588-1590)ggA>ggG	p.G530G	NUP155_ENST00000381843.2_Silent_p.G471G|NUP155_ENST00000513532.1_Silent_p.G530G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	530					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCTCCATCTCCTCCCACAT	0.328																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(1588-1590)ggA>ggG		nucleoporin 155kDa							93.0	91.0	92.0					5																	37331826		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37331826T>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1590A>G	5.37:g.37331826T>C						NUP155_ENST00000513532.1_Silent_p.G530G|NUP155_ENST00000381843.2_Silent_p.G471G	p.G530G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		14	1793	-	all_lung(31;0.000137)		530					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.1590A>G	CCDS3921.1																																																																																				0.328	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		79	312	0	0	0	1	0	79	312				
CSMD3	114788	broad.mit.edu	37	8	113519014	113519014	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113519014A>C	ENST00000297405.5	-	29	5045	c.4801T>G	c.(4801-4803)Tca>Gca	p.S1601A	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1601	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTTGGTGAAAGAATAAAG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4801-4803)Tca>Gca		CUB and Sushi multiple domains 3							118.0	110.0	113.0					8																	113519014		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113519014A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4801T>G	8.37:g.113519014A>C	ENSP00000297405:p.Ser1601Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A	p.S1601A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			29	5045	-			1601			CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4801T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406395	0.83230	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000004	T	0.61009	0.2313	M	0.92649	3.33	0.36203	D	0.850835	P;P;D	0.54772	0.928;0.884;0.968	B;P;P	0.61800	0.335;0.525;0.894	T	0.74910	-0.3503	10	0.40728	T	0.16	.	14.85	0.70289	1.0:0.0:0.0:0.0	.	1497;1601;1561	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	1561;1601;941;1497;1601	ENSP00000345799:S1561A;ENSP00000297405:S1601A;ENSP00000341558:S941A;ENSP00000412263:S1497A;ENSP00000343124:S1601A	ENSP00000297405:S1601A	S	-	1	0	CSMD3	113588190	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.139000	0.94554	2.091000	0.63221	0.455000	0.32223	TCA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		45	259	0	0	0	1	0	45	259				
THADA	63892	broad.mit.edu	37	2	43814082	43814082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43814082C>T	ENST00000405006.4	-	5	713	c.362G>A	c.(361-363)cGt>cAt	p.R121H	THADA_ENST00000402360.2_Missense_Mutation_p.R121H|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000403856.1_Missense_Mutation_p.R121H	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	121										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCCTGAAGACGAGAAGTAAA	0.348																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(361-363)cGt>cAt		thyroid adenoma associated							61.0	59.0	60.0					2																	43814082		1818	4061	5879	SO:0001583	missense	63892						binding	g.chr2:43814082C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.362G>A	2.37:g.43814082C>T	ENSP00000385995:p.Arg121His					THADA_ENST00000405006.4_Missense_Mutation_p.R121H|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000402360.2_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR	p.R121H			Q6YHU6	THADA_HUMAN			6	509	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	121					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.362G>A	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107737	0.37242	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.64803	2.95;2.95;-0.12;-0.12;1.5	4.62	3.68	0.42216	.	0.172595	0.50627	N	0.000101	T	0.44644	0.1303	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.15473	0.013;0.003;0.002;0.003	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.31081	-0.9956	10	0.34782	T	0.22	-7.7899	9.4071	0.38469	0.0:0.8861:0.0:0.1139	.	121;121;121;121	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	H	121	ENSP00000386088:R121H;ENSP00000385995:R121H;ENSP00000385441:R121H;ENSP00000384266:R121H;ENSP00000385469:R121H	ENSP00000349464:R121H	R	-	2	0	THADA	43667586	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.857000	0.39399	1.164000	0.42652	0.655000	0.94253	CGT		0.348	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		22	155	0	0	0	1	0	22	155				
DMRT3	58524	broad.mit.edu	37	9	977109	977109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:977109C>T	ENST00000190165.2	+	1	146	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	36					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCAACCATGGCGTCCTGTCCT	0.682																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(106-108)ggC>ggT		doublesex and mab-3 related transcription factor 3							20.0	17.0	18.0					9																	977109		2199	4299	6498	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:977109C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.108C>T	9.37:g.977109C>T							p.G36G	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	146	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	36					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.108C>T	CCDS6443.1																																																																																				0.682	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		8	84	0	0	0	1	0	8	84				
TENC1	23371	broad.mit.edu	37	12	53454543	53454543	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53454543G>A	ENST00000314250.6	+	20	3143	c.2853G>A	c.(2851-2853)caG>caA	p.Q951Q	TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000549700.1_Silent_p.Q886Q|TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000451358.1_Silent_p.Q941Q|TENC1_ENST00000546602.1_Silent_p.Q854Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	951	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGTTTCCCAGGCAGGCACCG	0.687																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(2851-2853)caG>caA		tensin like C1 domain containing phosphatase (tensin 2)							32.0	34.0	33.0					12																	53454543		2203	4300	6503	SO:0001819	synonymous_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53454543G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2853G>A	12.37:g.53454543G>A						TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000549700.1_Silent_p.Q886Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000451358.1_Silent_p.Q941Q|TENC1_ENST00000546602.1_Silent_p.Q854Q	p.Q951Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			20	3143	+			951			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.2853G>A	CCDS8843.1																																																																																				0.687	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		20	172	0	0	0	1	0	20	172				
SGSH	6448	broad.mit.edu	37	17	78197116	78197116	+	5'Flank	SNP	A	A	C	rs144577972	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78197116A>C	ENST00000326317.6	-	0	0				SLC26A11_ENST00000411502.3_Missense_Mutation_p.I165L|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000361193.3_Missense_Mutation_p.I165L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.I165L|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Missense_Mutation_p.I165L|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCCGTCACCATCGGCTTTGG	0.622																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(493-495)Atc>Ctc		solute carrier family 26 (anion exchanger), member 11							92.0	64.0	73.0					17																	78197116		2203	4300	6503	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78197116A>C	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78197116A>C	Exception_encountered					SLC26A11_ENST00000411502.3_Missense_Mutation_p.I165L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.I165L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.I165L	p.I165L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	773	+	all_neural(118;0.0538)		165					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.493A>C	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200068	0.79015	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.95307	-3.67;-3.67;-3.67	4.03	4.03	0.46877	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.97158	3.95	0.58432	D	0.999997	D	0.69078	0.997	D	0.66351	0.943	D	0.98638	1.0674	10	0.87932	D	0	-16.2882	12.6881	0.56960	1.0:0.0:0.0:0.0	.	165	Q86WA9	S2611_HUMAN	L	165	ENSP00000403998:I165L;ENSP00000440724:I165L;ENSP00000355384:I165L	ENSP00000355384:I165L	I	+	1	0	SLC26A11	75811711	1.000000	0.71417	0.496000	0.27539	0.622000	0.37654	9.167000	0.94773	1.476000	0.48215	0.397000	0.26171	ATC		0.622	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		39	175	0	0	0	1	0	39	175				
MAD1L1	8379	broad.mit.edu	37	7	2041733	2041733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2041733C>A	ENST00000406869.1	-	14	1940	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	MAD1L1_ENST00000402746.1_Missense_Mutation_p.E369D|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	461	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCCAGCTCCTCCAGGGCCT	0.627																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1381-1383)gaG>gaT		MAD1 mitotic arrest deficient-like 1 (yeast)							128.0	148.0	142.0					7																	2041733		2071	4215	6286	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2041733C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1383G>T	7.37:g.2041733C>A	ENSP00000385334:p.Glu461Asp					MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E369D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D	p.E461D			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	14	1940	-		Ovarian(82;0.0272)	461			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1383G>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953479	0.73902	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000438959;ENST00000444373	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.51	2.23	0.28157	.	0.112010	0.64402	D	0.000014	T	0.36386	0.0965	L	0.55834	1.745	0.34495	D	0.705382	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.66716	0.946;0.946;0.926	T	0.44143	-0.9347	10	0.37606	T	0.19	-36.0481	5.5262	0.16959	0.0:0.5627:0.0:0.4373	.	460;369;461	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	D	369;461;461;461;128;51	ENSP00000384155:E369D;ENSP00000382562:E461D;ENSP00000385334:E461D;ENSP00000265854:E461D;ENSP00000414877:E128D;ENSP00000393037:E51D	ENSP00000265854:E461D	E	-	3	2	MAD1L1	2008259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.347000	0.20014	0.664000	0.31047	0.650000	0.86243	GAG		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		211	874	1	0	4.61621e-74	1	5.87989e-74	211	874				
PALLD	23022	broad.mit.edu	37	4	169433221	169433221	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433221G>T	ENST00000505667.1	+	2	739	c.566G>T	c.(565-567)aGa>aTa	p.R189I	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.R66I|PALLD_ENST00000261509.6_Missense_Mutation_p.R189I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	189					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCAAAGCCAAGAAACAGAAGC	0.527									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(565-567)aGa>aTa		palladin, cytoskeletal associated protein							129.0	143.0	138.0					4																	169433221		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433221G>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.566G>T	4.37:g.169433221G>T	ENSP00000425556:p.Arg189Ile					PALLD_ENST00000333488.4_Missense_Mutation_p.R66I|PALLD_ENST00000505667.1_Missense_Mutation_p.R189I|PALLD_ENST00000335742.7_5'UTR	p.R189I	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	777	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	189					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.566G>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859973	0.51482	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.71934	-0.61;-0.35;-0.55;-0.55	5.55	3.85	0.44370	.	0.226724	0.21905	U	0.067389	T	0.69557	0.3124	M	0.75264	2.295	0.80722	D	1	P;P	0.45396	0.857;0.857	B;B	0.42030	0.373;0.373	T	0.67106	-0.5754	10	0.31617	T	0.26	.	12.0658	0.53588	0.1395:0.0:0.8605:0.0	.	189;189	B7ZMM5;B2RTX2	.;.	I	189;189;168;66	ENSP00000261509:R189I;ENSP00000425556:R189I;ENSP00000423063:R168I;ENSP00000328945:R66I	ENSP00000261509:R189I	R	+	2	0	PALLD	169669796	1.000000	0.71417	0.045000	0.18777	0.038000	0.13279	2.536000	0.45693	0.731000	0.32448	0.591000	0.81541	AGA		0.527	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		21	881	1	0	5.26018e-13	1	5.6673e-13	21	881				
MYH14	79784	broad.mit.edu	37	19	50726596	50726596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50726596C>A	ENST00000596571.1	+	4	683	c.683C>A	c.(682-684)cCg>cAg	p.P228Q	MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q|MYH14_ENST00000440075.2_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000601313.1_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	228	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAAGGAGCCGGGTGTCCCC	0.627																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(682-684)cCg>cAg		myosin, heavy chain 14, non-muscle							36.0	42.0	40.0					19																	50726596		2128	4260	6388	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50726596C>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.683C>A	19.37:g.50726596C>A	ENSP00000472819:p.Pro228Gln					MYH14_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000596571.1_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q|MYH14_ENST00000601313.1_Missense_Mutation_p.P228Q	p.P228Q			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	5	730	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	228			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.683C>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.122598	0.01785	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71341	-0.56;-0.55;-0.56;-0.56	4.49	3.38	0.38709	Myosin head, motor domain (2);	.	.	.	.	T	0.56171	0.1967	N	0.20530	0.585	0.38806	D	0.9553	P;B;B	0.48230	0.907;0.082;0.004	P;B;B	0.46850	0.529;0.199;0.019	T	0.49899	-0.8890	9	0.15952	T	0.53	.	9.4335	0.38624	0.31:0.69:0.0:0.0	.	228;228;228	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	228	ENSP00000406273:P228Q;ENSP00000366169:P228Q;ENSP00000407879:P228Q;ENSP00000262269:P228Q	ENSP00000262269:P228Q	P	+	2	0	MYH14	55418408	0.978000	0.34361	0.950000	0.38849	0.176000	0.22953	3.532000	0.53553	2.508000	0.84585	0.579000	0.79373	CCG		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		12	35	1	0	3.07112e-06	1	3.16074e-06	12	35				
ITGB8	3696	broad.mit.edu	37	7	20420382	20420382	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20420382A>C	ENST00000222573.4	+	5	1413	c.729A>C	c.(727-729)agA>agC	p.R243S	ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	243	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTTCATAGACAGAAGATCT	0.443																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(727-729)agA>agC		integrin, beta 8							137.0	124.0	128.0					7																	20420382		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20420382A>C		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.729A>C	7.37:g.20420382A>C	ENSP00000222573:p.Arg243Ser					ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	p.R243S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			5	1413	+			243			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.729A>C	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667596	0.47677	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97620	-4.46;-4.46	6.07	4.92	0.64577	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.069216	0.64402	D	0.000010	D	0.92698	0.7679	L	0.28608	0.87	0.38344	D	0.944144	B;B	0.09022	0.001;0.002	B;B	0.12156	0.006;0.007	D	0.88415	0.3024	10	0.62326	D	0.03	.	5.2764	0.15651	0.7337:0.0:0.1326:0.1337	.	243;243	P26012;Q9BUG9	ITB8_HUMAN;.	S	108;243	ENSP00000441561:R108S;ENSP00000222573:R243S	ENSP00000222573:R243S	R	+	3	2	ITGB8	20386907	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.664000	0.37439	1.103000	0.41568	-0.301000	0.09380	AGA		0.443	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		42	380	0	0	0	1	0	42	380				
SYT14	255928	broad.mit.edu	37	1	210273403	210273403	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210273403A>C	ENST00000472886.1	+	6	775	c.761A>C	c.(760-762)gAt>gCt	p.D254A	SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A|SYT14_ENST00000537238.1_Missense_Mutation_p.D216A|SYT14_ENST00000367015.1_Missense_Mutation_p.D216A|SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000534859.1_Missense_Mutation_p.D254A			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	254					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAACCTTTTGATCCTGAGCCA	0.383																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(646-648)gAt>gCt		synaptotagmin XIV							65.0	62.0	63.0					1																	210273403		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210273403A>C	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.761A>C	1.37:g.210273403A>C	ENSP00000418901:p.Asp254Ala					SYT14_ENST00000367015.1_Missense_Mutation_p.D216A|SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000472886.1_Missense_Mutation_p.D254A|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.D254A	p.D216A	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	7	1038	+			254					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.647A>C	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02	5.88	3.53	0.40419	C2 calcium/lipid-binding domain, CaLB (1);	0.207325	0.49305	D	0.000159	T	0.08403	0.0209	N	0.19112	0.55	0.52501	D	0.999958	B;B;P;B	0.49961	0.035;0.013;0.93;0.059	B;B;P;B	0.50440	0.017;0.01;0.641;0.039	T	0.32481	-0.9905	10	0.40728	T	0.16	-13.0195	7.8436	0.29412	0.809:0.0:0.067:0.124	.	282;254;254;299	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	299;254;254;216;254;254;216	ENSP00000389039:D299A;ENSP00000442891:D254A;ENSP00000445837:D254A;ENSP00000437423:D216A;ENSP00000355986:D254A;ENSP00000418901:D254A;ENSP00000355982:D216A	ENSP00000355982:D216A	D	+	2	0	SYT14	208340026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.569000	0.67391	0.457000	0.26962	0.477000	0.44152	GAT		0.383	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		69	221	0	0	0	1	0	69	221				
TFEC	22797	broad.mit.edu	37	7	115580986	115580986	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580986C>A	ENST00000265440.7	-	8	844		c.e8-1		TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Splice_Site|TFEC_ENST00000457268.1_Splice_Site	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC						cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TTTCTAGTTCCTGTAATTTCA	0.378																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.e8-1		transcription factor EC							57.0	59.0	58.0					7																	115580986		2189	4295	6484	SO:0001630	splice_region_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580986C>A	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.664-1G>T	7.37:g.115580986C>A						TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Splice_Site|TFEC_ENST00000457268.1_Splice_Site		NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	844	-								B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Splice_Site	SNP	ENST00000265440.7	37		CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270198	0.80469	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1236	0.93374	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFEC	115368222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.353000	0.79414	2.594000	0.87642	0.650000	0.86243	.		0.378	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	Intron	70	294	1	0	4.6872e-13	1	5.05235e-13	70	294				
ADAMTS2	9509	broad.mit.edu	37	5	178553085	178553085	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178553085C>T	ENST00000251582.7	-	18	2765	c.2664G>A	c.(2662-2664)aaG>aaA	p.K888K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	888	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGTACCATCTTGTGGTCCA	0.657																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2662-2664)aaG>aaA		ADAM metallopeptidase with thrombospondin type 1 motif, 2							83.0	86.0	85.0					5																	178553085		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178553085C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2664G>A	5.37:g.178553085C>T							p.K888K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	18	2765	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	888			TSP type-1 2.			Silent	SNP	ENST00000251582.7	37	c.2664G>A	CCDS4444.1																																																																																				0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		131	725	0	0	0	1	0	131	725				
LDHB	3945	broad.mit.edu	37	12	21795006	21795006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21795006C>T	ENST00000396076.1	-	5	807	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	159					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CTTCCAATCACGCGGTGTTTG	0.398																																						ENST00000396076.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						c.(475-477)Gtg>Atg		lactate dehydrogenase B	NADH(DB00157)						108.0	98.0	101.0					12																	21795006		2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21795006C>T		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.475G>A	12.37:g.21795006C>T	ENSP00000379386:p.Val159Met					LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	p.V159M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN			5	807	-			159						Missense_Mutation	SNP	ENST00000396076.1	37	c.475G>A	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516070	0.85495	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.054730	0.64402	D	0.000001	D	0.95971	0.8688	H	0.98048	4.135	0.80722	D	1	P	0.49358	0.923	P	0.47402	0.546	D	0.96827	0.9608	10	0.87932	D	0	.	13.0855	0.59138	0.0:0.9268:0.0:0.0732	.	159	P07195	LDHB_HUMAN	M	159	ENSP00000379386:V159M;ENSP00000229319:V159M;ENSP00000379385:V159M	ENSP00000229319:V159M	V	-	1	0	LDHB	21686273	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.076000	0.71267	2.679000	0.91253	0.644000	0.83932	GTG		0.398	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		81	348	0	0	0	1	0	81	348				
GRM3	2913	broad.mit.edu	37	7	86469049	86469049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86469049C>T	ENST00000361669.2	+	4	3318	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	740					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ATGTTGATCTCTCTTACCTAC	0.468																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2218-2220)tCt>tTt		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						127.0	109.0	115.0					7																	86469049		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86469049C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2219C>T	7.37:g.86469049C>T	ENSP00000355316:p.Ser740Phe					GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000439827.1_Intron	p.S740F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3318	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		740					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2219C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964456	0.74131	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88354	-2.37;-2.37;-2.37	5.54	5.54	0.83059	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95901	0.8915	10	0.72032	D	0.01	.	18.4662	0.90755	0.0:1.0:0.0:0.0	.	332;612;740	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	F	740;332;612	ENSP00000355316:S740F;ENSP00000444064:S332F;ENSP00000441407:S612F	ENSP00000355316:S740F	S	+	2	0	GRM3	86306985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.603000	0.88011	0.563000	0.77884	TCT		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			30	321	0	0	0	1	0	30	321				
NR4A2	4929	broad.mit.edu	37	2	157182425	157182425	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157182425T>C	ENST00000339562.4	-	8	1990	c.1628A>G	c.(1627-1629)aAt>aGt	p.N543S	NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000429376.1_Silent_p.Q445Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	543					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAACCCCCCATTGTTGAAAGT	0.478																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1627-1629)aAt>aGt		nuclear receptor subfamily 4, group A, member 2							112.0	114.0	114.0					2																	157182425		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182425T>C	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1628A>G	2.37:g.157182425T>C	ENSP00000344479:p.Asn543Ser					NR4A2_ENST00000429376.1_Silent_p.Q445Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S|NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S	p.N543S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			8	1990	-			543					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1628A>G	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	T	0.699	-0.791458	0.02884	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.144766	0.64402	D	0.000006	T	0.19406	0.0466	N	0.00583	-1.355	0.45108	D	0.998122	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	10	0.21014	T	0.42	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	543	P43354	NR4A2_HUMAN	S	543;480;543;554	ENSP00000344479:N543S;ENSP00000389986:N480S;ENSP00000386747:N543S;ENSP00000444925:N554S	ENSP00000344479:N543S	N	-	2	0	NR4A2	156890671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.324000	0.78689	0.533000	0.62120	AAT		0.478	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			101	274	0	0	0	1	0	101	274				
CUBN	8029	broad.mit.edu	37	10	16877137	16877137	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877137T>G	ENST00000377833.4	-	64	10303	c.10238A>C	c.(10237-10239)gAt>gCt	p.D3413A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3413	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCGTAGTTATCTGGCCATCC	0.438																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10237-10239)gAt>gCt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						165.0	142.0	150.0					10																	16877137		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877137T>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10238A>C	10.37:g.16877137T>G	ENSP00000367064:p.Asp3413Ala						p.D3413A	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10303	-			3413			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10238A>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	5.530	0.282625	0.10458	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.35048	1.33	4.84	-0.549	0.11829	CUB (5);	0.695101	0.12395	N	0.472617	T	0.21550	0.0519	N	0.21282	0.65	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.18999	-1.0319	10	0.56958	D	0.05	.	6.1158	0.20126	0.0:0.3293:0.1301:0.5406	.	3413	O60494	CUBN_HUMAN	A	3413;254	ENSP00000367064:D3413A	ENSP00000367064:D3413A	D	-	2	0	CUBN	16917143	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.440000	0.21592	-0.251000	0.09542	-0.361000	0.07541	GAT		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		76	341	0	0	0	1	0	76	341				
XPC	7508	broad.mit.edu	37	3	14209881	14209881	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14209881C>T	ENST00000285021.7	-	4	627		c.e4-1		XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C						DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACTAAGTTCTATCAACAAG	0.423			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e4-1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							55.0	54.0	55.0					3																	14209881		1888	4129	6017	SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14209881C>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.413-1G>A	3.37:g.14209881C>T						XPC_ENST00000449060.2_Intron		NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			4	627	-								B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	SNP	ENST00000285021.7	37		CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536607	0.27475	.	.	ENSG00000154767	ENST00000285021;ENST00000511155	.	.	.	5.46	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0672	0.64837	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	XPC	14184885	1.000000	0.71417	0.938000	0.37757	0.167000	0.22549	5.845000	0.69437	1.304000	0.44892	0.591000	0.81541	.		0.423	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	Intron	8	198	0	0	0	1	0	8	198				
CCDC117	150275	broad.mit.edu	37	22	29182081	29182081	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29182081C>T	ENST00000249064.4	+	5	783	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	CCDC117_ENST00000448492.2_Missense_Mutation_p.R185C|CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C|CCDC117_ENST00000443309.2_Missense_Mutation_p.R71C	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	203										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TCTTAGGAGCCGTCCTTCCAT	0.398																																						ENST00000249064.4																			0				breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						c.(607-609)Cgt>Tgt		coiled-coil domain containing 117							66.0	67.0	67.0					22																	29182081		2203	4300	6503	SO:0001583	missense	150275							g.chr22:29182081C>T	AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.607C>T	22.37:g.29182081C>T	ENSP00000249064:p.Arg203Cys					CCDC117_ENST00000443309.2_Missense_Mutation_p.R71C|CCDC117_ENST00000448492.2_Missense_Mutation_p.R185C|CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C	p.R203C	NM_173510.2	NP_775781.1	Q8IWD4	CC117_HUMAN			5	783	+			203					A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	37	c.607C>T	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667348	0.88348	.	.	ENSG00000159873	ENST00000249064;ENST00000448492;ENST00000421503;ENST00000443309	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.94	5.94	0.96194	.	0.057185	0.64402	D	0.000001	T	0.34745	0.0908	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02269	-1.1185	10	0.87932	D	0	.	19.3473	0.94370	0.0:1.0:0.0:0.0	.	128;185;203	B7Z2V1;B7Z860;Q8IWD4	.;.;CC117_HUMAN	C	203;185;128;71	ENSP00000249064:R203C;ENSP00000389478:R185C;ENSP00000387827:R128C;ENSP00000399363:R71C	ENSP00000249064:R203C	R	+	1	0	CCDC117	27512081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.000000	0.63940	2.816000	0.96949	0.561000	0.74099	CGT		0.398	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510		12	283	0	0	0	1	0	12	283				
MUC3A	4584	broad.mit.edu	37	7	100549596	100549596	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100549596T>C	ENST00000379458.4	+	2	177	c.177T>C	c.(175-177)ggT>ggC	p.G59G	MUC3A_ENST00000319509.7_5'Flank|MUC3A_ENST00000483366.1_3'UTR			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	59					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGCCACTTGGTGTCCCCCAGC	0.572																																						ENST00000379458.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(175-177)ggT>ggC		mucin 3A, cell surface associated							149.0	146.0	147.0					7																	100549596		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100549596T>C	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000379458.4:c.177T>C	7.37:g.100549596T>C						MUC3A_ENST00000483366.1_3'UTR	p.59_59insG							2	177	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000379458.4	37	c.177T>C																																																																																					0.572	MUC3A-201	NOVEL	basic|appris_principal	protein_coding	protein_coding		XM_001725354		121	538	0	0	0	1	0	121	538				
ZNF500	26048	broad.mit.edu	37	16	4815977	4815977	+	Start_Codon_SNP	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4815977C>T	ENST00000219478.6	-	2	302	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF500_ENST00000545009.1_Start_Codon_SNP_p.M1I			O60304	ZN500_HUMAN	zinc finger protein 500	1					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGACAGTGGCCATTGCTTCCG	0.547																																						ENST00000219478.6																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1-3)atG>atA		zinc finger protein 500							54.0	50.0	51.0					16																	4815977		2197	4300	6497	SO:0001582	initiator_codon_variant	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4815977C>T	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.3G>A	16.37:g.4815977C>T	ENSP00000219478:p.Met1Ile					ZNF500_ENST00000545009.1_Start_Codon_SNP_p.M1I	p.M1I			O60304	ZN500_HUMAN			2	302	-			1					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Translation_Start_Site	SNP	ENST00000219478.6	37	c.3G>A	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839663	0.51057	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.05649	3.48;3.41	3.78	3.78	0.43462	.	.	.	.	.	T	0.20088	0.0483	.	.	.	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.65140	0.932;0.932	T	0.00498	-1.1704	8	0.72032	D	0.01	.	11.156	0.48489	0.0:1.0:0.0:0.0	.	1;1	B4DNN9;O60304	.;ZN500_HUMAN	I	1	ENSP00000445714:M1I;ENSP00000219478:M1I	ENSP00000219478:M1I	M	-	3	0	ZNF500	4755978	0.999000	0.42202	0.644000	0.29465	0.034000	0.12701	1.726000	0.38085	1.677000	0.50941	0.655000	0.94253	ATG		0.547	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507	Missense_Mutation	82	331	0	0	0	1	0	82	331				
IL17RD	54756	broad.mit.edu	37	3	57132156	57132156	+	Silent	SNP	C	C	T	rs373484847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57132156C>T	ENST00000296318.7	-	12	1663	c.1575G>A	c.(1573-1575)acG>acA	p.T525T	IL17RD_ENST00000463523.1_Silent_p.T381T|IL17RD_ENST00000427856.2_Silent_p.T501T|IL17RD_ENST00000320057.5_Silent_p.T381T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	525					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGCCCTGTCGCGTGTGCTGCC	0.572																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1573-1575)acG>acA		interleukin 17 receptor D							74.0	65.0	68.0					3																	57132156		2203	4300	6503	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57132156C>T	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1575G>A	3.37:g.57132156C>T						IL17RD_ENST00000427856.2_Silent_p.T501T|IL17RD_ENST00000320057.5_Silent_p.T381T|IL17RD_ENST00000463523.1_Silent_p.T381T	p.T525T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1663	-			525					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.1575G>A	CCDS2880.2																																																																																				0.572	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		35	166	0	0	0	1	0	35	166				
PLXNA2	5362	broad.mit.edu	37	1	208383704	208383704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208383704C>T	ENST00000367033.3	-	3	2049	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	431	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGAGGTCATGCGGTCCCTGCT	0.542																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1291-1293)cGc>cAc		plexin A2							118.0	86.0	97.0					1																	208383704		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208383704C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1292G>A	1.37:g.208383704C>T	ENSP00000356000:p.Arg431His						p.R431H	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	3	2049	-			431			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1292G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254088	0.80135	.	.	ENSG00000076356	ENST00000367033	T	0.12672	2.66	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.998;1.0	P;P	0.62491	0.814;0.903	T	0.01390	-1.1367	10	0.21014	T	0.42	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	485;431	O75051-2;O75051	.;PLXA2_HUMAN	H	431	ENSP00000356000:R431H	ENSP00000356000:R431H	R	-	2	0	PLXNA2	206450327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.817000	0.69229	2.652000	0.90054	0.655000	0.94253	CGC		0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		39	183	0	0	0	1	0	39	183				
PIGG	54872	broad.mit.edu	37	4	524230	524230	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:524230T>G	ENST00000453061.2	+	11	2373	c.2267T>G	c.(2266-2268)aTt>aGt	p.I756S	PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.I623S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	756					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTAGGGGTATTATTGAAGCT	0.378																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2266-2268)aTt>aGt		phosphatidylinositol glycan anchor biosynthesis, class G							100.0	100.0	100.0					4																	524230		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:524230T>G		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2267T>G	4.37:g.524230T>G	ENSP00000415203:p.Ile756Ser					PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S|PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000383028.4_Missense_Mutation_p.I623S	p.I756S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			11	2373	+			756					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2267T>G	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381845	0.61845	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.12569	2.99;2.99;2.67;2.67	5.62	5.62	0.85841	.	0.143965	0.64402	D	0.000007	T	0.18341	0.0440	M	0.65975	2.015	0.80722	D	1	P;P;P	0.43973	0.702;0.729;0.823	B;B;B	0.42495	0.294;0.218;0.389	T	0.05099	-1.0906	10	0.16420	T	0.52	-14.3867	14.0652	0.64824	0.0:0.0:0.0:1.0	.	623;756;748	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	S	748;756;667;623	ENSP00000311750:I748S;ENSP00000415203:I756S;ENSP00000424800:I667S;ENSP00000372494:I623S	ENSP00000311750:I748S	I	+	2	0	PIGG	514230	1.000000	0.71417	0.027000	0.17364	0.974000	0.67602	5.364000	0.66110	2.263000	0.75096	0.533000	0.62120	ATT		0.378	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		73	391	0	0	0	1	0	73	391				
MLLT4	4301	broad.mit.edu	37	6	168299002	168299002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168299002G>T	ENST00000447894.2	+	11	1435	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	MLLT4_ENST00000366806.2_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	479	FHA.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCGCATCTCAGAAACCACCAT	0.517			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1435-1437)Gaa>Taa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99.0	84.0	89.0					6																	168299002		2203	4300	6503	SO:0001587	stop_gained	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168299002G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1435G>T	6.37:g.168299002G>T	ENSP00000404595:p.Glu479*					MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*	p.E479*			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	11	1577	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	479			FHA.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37	c.1435G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.003798|8.003798	0.98605|0.98605	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.052104|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71281	.|0.3321	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69427	.|-0.5148	.|3	0.52906|.	T|.	0.07|.	-39.2566|-39.2566	19.5218|19.5218	0.95187|0.95187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	479;479;479;479;463;479;478;479|177	.|.	ENSP00000345834:E479X|.	E|R	+|+	1|2	0|0	MLLT4|MLLT4	168041851|168041851	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.919000|0.919000	0.55068|0.55068	9.607000|9.607000	0.98328|0.98328	2.609000|2.609000	0.88269|0.88269	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.517	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		11	198	1	0	2.80697e-09	1	2.95087e-09	11	198				
BAI2	576	broad.mit.edu	37	1	32207538	32207538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32207538G>A	ENST00000373658.3	-	9	1789	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	483	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGCTCCACGCATTCCATGG	0.642																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1447-1449)gCg>gTg		brain-specific angiogenesis inhibitor 2							66.0	65.0	65.0					1																	32207538		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207538G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1448C>T	1.37:g.32207538G>A	ENSP00000362762:p.Ala483Val					BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V	p.A483V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	9	1789	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	483			TSP type-1 4.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.1448C>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171248	0.38315	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001572	T	0.49558	0.1564	L	0.39566	1.225	0.09310	N	1	B;P;B;B;B;D;B	0.53885	0.386;0.544;0.334;0.16;0.386;0.963;0.386	B;B;B;B;B;P;B	0.50049	0.104;0.1;0.038;0.028;0.064;0.629;0.104	T	0.41305	-0.9516	10	0.26408	T	0.33	.	11.1636	0.48531	0.0:0.0:0.7045:0.2955	.	416;483;471;125;416;483;483	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	V	431;416;483;483;416;483;483;125;471;421;462	ENSP00000381564:A431V;ENSP00000381555:A416V;ENSP00000362762:A483V;ENSP00000362759:A483V;ENSP00000381550:A416V;ENSP00000257070:A483V;ENSP00000435397:A483V;ENSP00000391071:A125V;ENSP00000381548:A471V;ENSP00000410921:A421V;ENSP00000437219:A462V	ENSP00000257070:A483V	A	-	2	0	BAI2	31980125	0.306000	0.24490	0.009000	0.14445	0.950000	0.60333	2.883000	0.48554	2.457000	0.83068	0.561000	0.74099	GCG		0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		67	287	0	0	0	1	0	67	287				
TM9SF1	10548	broad.mit.edu	37	14	24658926	24658926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24658926C>T	ENST00000261789.4	-	6	1874	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A715T|RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	506					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGCAGGATGGCGAAGACAAAG	0.527																																						ENST00000530611.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(2143-2145)Gcc>Acc		transmembrane 9 superfamily member 1							117.0	108.0	111.0					14																	24658926		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24658926C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1516G>A	14.37:g.24658926C>T	ENSP00000261789:p.Ala506Thr					TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T|TM9SF1_ENST00000261789.4_Missense_Mutation_p.A506T|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T|RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T	p.A715T			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	10	2176	-			506					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.2143G>A	CCDS9617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.189563|4.189563	0.78789|0.78789	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.43294|0.54866	0.95;0.95;0.95;0.95;0.95|0.55	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44912|0.44912	0.1316|0.1316	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	B|.	0.32203|.	0.36|.	B|.	0.26416|.	0.069|.	T|T	0.54282|0.54282	-0.8317|-0.8317	10|7	0.59425|0.87932	D|D	0.04|0	-13.9922|-13.9922	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	506|.	O15321|.	TM9S1_HUMAN|.	T|H	506;489;715;419;715|73	ENSP00000261789:A506T;ENSP00000432997:A489T;ENSP00000451949:A715T;ENSP00000434387:A419T;ENSP00000433967:A715T|ENSP00000436486:R73H	ENSP00000433967:A715T|ENSP00000436486:R73H	A|R	-|-	1|2	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23728766|23728766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.374000|6.374000	0.73132|0.73132	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.527	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		71	371	0	0	0	1	0	71	371				
TDRKH	11022	broad.mit.edu	37	1	151751711	151751711	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151751711G>A	ENST00000368822.1	-	5	1062	c.429C>T	c.(427-429)ggC>ggT	p.G143G	TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000458431.2_Silent_p.G143G|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Silent_p.G143G|TDRKH_ENST00000368824.3_Silent_p.G143G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	143	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTCTCGCCGCCTCTCCCTA	0.398																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(427-429)ggC>ggT		tudor and KH domain containing							86.0	80.0	82.0					1																	151751711		1856	4088	5944	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151751711G>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.429C>T	1.37:g.151751711G>A						TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Silent_p.G143G|TDRKH_ENST00000368824.3_Silent_p.G143G|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000458431.2_Silent_p.G143G	p.G143G			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	1062	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		143			KH 2.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.429C>T	CCDS41394.1																																																																																				0.398	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		60	322	0	0	0	1	0	60	322				
NPRL2	10641	broad.mit.edu	37	3	50385991	50385991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385991G>T	ENST00000232501.3	-	7	1125	c.687C>A	c.(685-687)taC>taA	p.Y229*	XXcos-LUCA11.5_ENST00000606589.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_5'UTR|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	229					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CAACGCCGTAGTACCTGAGAG	0.582																																						ENST00000232501.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(685-687)taC>taA		nitrogen permease regulator-like 2 (S. cerevisiae)							151.0	131.0	138.0					3																	50385991		2203	4300	6503	SO:0001587	stop_gained	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50385991G>T	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.687C>A	3.37:g.50385991G>T	ENSP00000232501:p.Tyr229*					NPRL2_ENST00000493465.1_5'UTR	p.Y229*	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN			7	1125	-			229					A8K831|Q6FGS2|Q9Y249|Q9Y497	Nonsense_Mutation	SNP	ENST00000232501.3	37	c.687C>A	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	38	6.645978	0.97730	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.65	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9752	10.0896	0.42439	0.2228:0.0:0.7772:0.0	.	.	.	.	X	229	.	ENSP00000232501:Y229X	Y	-	3	2	NPRL2	50360995	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.347000	0.52200	0.285000	0.22329	0.655000	0.94253	TAC		0.582	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		59	268	1	0	4.64241e-40	1	5.62287e-40	59	268				
CASP8	841	broad.mit.edu	37	2	202149924	202149924	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202149924G>A	ENST00000432109.2	+	9	1377	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Silent_p.E381E|CASP8_ENST00000264275.5_Silent_p.E413E|CASP8_ENST00000358485.4_Silent_p.E455E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	396					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCCGGATGAGGCTGACTTTC	0.463										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1363-1365)gaG>gaA		caspase 8, apoptosis-related cysteine peptidase							71.0	66.0	68.0					2																	202149924		2203	4300	6503	SO:0001819	synonymous_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149924G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1188G>A	2.37:g.202149924G>A		HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Silent_p.E396E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000264275.5_Silent_p.E413E|CASP8_ENST00000323492.7_Silent_p.E381E	p.E455E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1561	+			396					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	37	c.1365G>A	CCDS2342.1																																																																																				0.463	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		86	246	0	0	0	1	0	86	246				
SPATA2L	124044	broad.mit.edu	37	16	89764461	89764461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764461G>A	ENST00000289805.5	-	3	624	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	186										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTGGCACGCCGTGCCTGCAGC	0.726																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(556-558)Cgg>Tgg		spermatogenesis associated 2-like							11.0	13.0	13.0					16																	89764461		2168	4251	6419	SO:0001583	missense	124044							g.chr16:89764461G>A	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.556C>T	16.37:g.89764461G>A	ENSP00000289805:p.Arg186Trp					SPATA2L_ENST00000335360.7_Intron	p.R186W	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	624	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	186					D3DX85|Q8NHV3	Missense_Mutation	SNP	ENST00000289805.5	37	c.556C>T	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259451	0.59321	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.72	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.71082	0.3298	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72802	-0.4183	9	0.87932	D	0	.	11.473	0.50280	0.0:0.0:0.8048:0.1952	.	186	Q8IUW3	SPA2L_HUMAN	W	186	.	ENSP00000289805:R186W	R	-	1	2	SPATA2L	88291962	0.081000	0.21417	0.688000	0.30117	0.605000	0.37080	0.617000	0.24359	0.887000	0.36136	0.462000	0.41574	CGG		0.726	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		26	154	0	0	0	1	0	26	154				
FAM57A	79850	broad.mit.edu	37	17	644642	644642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:644642C>T	ENST00000308278.8	+	5	842	c.606C>T	c.(604-606)tcC>tcT	p.S202S	FAM57A_ENST00000301324.8_Silent_p.S170S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	202	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTACTGGTCCTATGGCCGCC	0.542																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(604-606)tcC>tcT		family with sequence similarity 57, member A							141.0	116.0	124.0					17																	644642		2203	4300	6503	SO:0001819	synonymous_variant	79850					integral to membrane|plasma membrane		g.chr17:644642C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.606C>T	17.37:g.644642C>T						FAM57A_ENST00000301324.8_Silent_p.S170S	p.S202S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	5	842	+			202			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	ENST00000308278.8	37	c.606C>T	CCDS10996.1																																																																																				0.542	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		78	287	0	0	0	1	0	78	287				
PTPRF	5792	broad.mit.edu	37	1	44070974	44070974	+	Silent	SNP	C	C	T	rs563797561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44070974C>T	ENST00000359947.4	+	18	3589	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000438120.1_Silent_p.S1074S|PTPRF_ENST00000422171.2_Silent_p.S431S|PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1083	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGCAGCAGCGCAGGGGGCC	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		18036	0.001		0.0	False		,,,				2504	0.001					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3247-3249)agC>agT		protein tyrosine phosphatase, receptor type, F							57.0	61.0	59.0					1																	44070974		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44070974C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3249C>T	1.37:g.44070974C>T						PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000422171.2_Silent_p.S431S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000438120.1_Silent_p.S1074S	p.S1083S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			18	3589	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1083			Fibronectin type-III 8.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3249C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.300|9.300	1.052874|1.052874	0.19907|0.19907	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568;ENST00000414879	.|.	.|.	.|.	5.31|5.31	-5.64|-5.64	0.02466|0.02466	.|.	.|.	.|.	.|.	.|.	T|T	0.65217|0.65217	0.2670|0.2670	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66905|0.66905	-0.5805|-0.5805	4|4	.|.	.|.	.|.	.|.	16.6775|16.6775	0.85283|0.85283	0.0:0.1841:0.0:0.8159|0.0:0.1841:0.0:0.8159	.|.	.|.	.|.	.|.	V|C	729|456;497	.|.	.|.	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43843561|43843561	0.002000|0.002000	0.14202|0.14202	0.437000|0.437000	0.26809|0.26809	0.853000|0.853000	0.48598|0.48598	-1.240000|-1.240000	0.02914|0.02914	-1.139000|-1.139000	0.02881|0.02881	-0.229000|-0.229000	0.12294|0.12294	GCG|CGC		0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			43	389	0	0	0	1	0	43	389				
PRR5L	79899	broad.mit.edu	37	11	36422814	36422814	+	Missense_Mutation	SNP	G	G	A	rs376716246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36422814G>A	ENST00000378867.3	+	3	498	c.143G>A	c.(142-144)aGc>aAc	p.S48N	PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N|PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	48					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTGCAGCTGAGCTCCAGCTCA	0.657																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(142-144)aGc>aAc		proline rich 5 like		G	ASN/SER,,ASN/SER,ASN/SER	0,4402		0,0,2201	27.0	26.0	26.0		143,,143,143	5.2	1.0	11		26	1,8595	1.2+/-3.3	0,1,4297	no	missense,intron,missense,missense	PRR5L	NM_001160167.1,NM_001160168.1,NM_001160169.1,NM_024841.4	46,,46,46	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,,benign,benign	48/369,,48/206,48/369	36422814	1,12997	2201	4298	6499	SO:0001583	missense	79899							g.chr11:36422814G>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.143G>A	11.37:g.36422814G>A	ENSP00000368144:p.Ser48Asn					PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N|PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N	p.S48N	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			3	498	+			48					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.143G>A	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015551	0.54468	0.0	1.16E-4	ENSG00000135362	ENST00000530639;ENST00000532121;ENST00000526728;ENST00000311599;ENST00000378867;ENST00000524380;ENST00000526682;ENST00000530252;ENST00000530050;ENST00000526679;ENST00000527487	T;T;T;T;T;T;T;T;T;T;T	0.64991	1.52;1.52;1.52;1.76;1.52;-0.13;1.52;1.52;1.52;1.52;1.52	5.24	5.24	0.73138	.	0.163476	0.56097	D	0.000033	T	0.46288	0.1385	L	0.27053	0.805	0.43255	D	0.995181	B;B	0.15473	0.003;0.013	B;B	0.15052	0.012;0.01	T	0.36553	-0.9743	10	0.14252	T	0.57	-18.1743	12.2157	0.54404	0.0774:0.0:0.9226:0.0	.	48;48	E9PKY1;Q6MZQ0	.;PRR5L_HUMAN	N	48;48;48;22;48;48;48;48;48;48;48	ENSP00000435050:S48N;ENSP00000433893:S48N;ENSP00000431610:S48N;ENSP00000310103:S22N;ENSP00000368144:S48N;ENSP00000433305:S48N;ENSP00000436485:S48N;ENSP00000431475:S48N;ENSP00000432203:S48N;ENSP00000436402:S48N;ENSP00000435241:S48N	ENSP00000310103:S22N	S	+	2	0	PRR5L	36379390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.440000	0.82611	0.655000	0.94253	AGC		0.657	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		19	126	0	0	0	1	0	19	126				
TRIM39	56658	broad.mit.edu	37	6	30309622	30309622	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30309622C>T	ENST00000396547.1	+	8	1303	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	TRIM39_ENST00000376656.4_Silent_p.C381C|TRIM39-RPP21_ENST00000513556.1_Silent_p.C263C|TRIM39_ENST00000376659.5_Silent_p.C351C|TRIM39_ENST00000396548.1_Silent_p.C351C|TRIM39_ENST00000396551.3_Silent_p.C351C|TRIM39_ENST00000540416.1_Silent_p.C351C			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TCTACCCTTGCGTCCTGGCTA	0.577																																						ENST00000376659.5																			0				ovary(3)	3						c.(1051-1053)tgC>tgT		tripartite motif containing 39							122.0	80.0	95.0					6																	30309622		1511	2708	4219	SO:0001819	synonymous_variant	56658							g.chr6:30309622C>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1143C>T	6.37:g.30309622C>T						TRIM39_ENST00000396547.1_Silent_p.C381C|TRIM39_ENST00000396551.3_Silent_p.C351C|TRIM39_ENST00000540416.1_Silent_p.C351C|TRIM39-RPP21_ENST00000513556.1_Silent_p.C263C|TRIM39_ENST00000376656.4_Silent_p.C381C|TRIM39_ENST00000396548.1_Silent_p.C351C	p.C351C	NM_172016.2	NP_742013.1					8	1651	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	c.1053C>T	CCDS34377.1																																																																																				0.577	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		8	276	0	0	0	1	0	8	276				
GJC2	57165	broad.mit.edu	37	1	228345635	228345635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345635G>A	ENST00000366714.2	+	2	351	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	59					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGCAACACGCGGCAGCCAGGC	0.642																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(175-177)cGg>cAg		gap junction protein, gamma 2, 47kDa							70.0	53.0	59.0					1																	228345635		2203	4300	6503	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345635G>A	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.176G>A	1.37:g.228345635G>A	ENSP00000355675:p.Arg59Gln						p.R59Q	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	351	+		Prostate(94;0.0405)	59					O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.176G>A	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781455	0.16120	.	.	ENSG00000198835	ENST00000366714	D	0.99014	-5.33	4.23	4.23	0.50019	Connexin, conserved site (1);Connexin, N-terminal (2);	0.085302	0.40818	N	0.001014	D	0.93442	0.7908	N	0.02412	-0.56	0.32788	N	0.50156	D	0.53745	0.962	P	0.47626	0.552	D	0.93093	0.6501	10	0.02654	T	1	.	5.0104	0.14310	0.2671:0.0:0.7329:0.0	.	59	Q5T442	CXG2_HUMAN	Q	59	ENSP00000355675:R59Q	ENSP00000355675:R59Q	R	+	2	0	GJC2	226412258	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	6.008000	0.70739	2.204000	0.70986	0.491000	0.48974	CGG		0.642	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		39	130	0	0	0	1	0	39	130				
LAMA2	3908	broad.mit.edu	37	6	129634016	129634016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129634016G>A	ENST00000421865.2	+	23	3234	c.3185G>A	c.(3184-3186)tGc>tAc	p.C1062Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1062	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTTGTAACTGCAGCACAGTG	0.363																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3184-3186)tGc>tAc		laminin, alpha 2							72.0	73.0	73.0					6																	129634016		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129634016G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3185G>A	6.37:g.129634016G>A	ENSP00000400365:p.Cys1062Tyr						p.C1062Y	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	23	3234	+			1062			Laminin EGF-like 12.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3185G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327102	0.81690	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	5.92	5.92	0.95590	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	H	0.99507	4.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99368	1.0919	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	1062;1062	A6NF00;P24043	.;LAMA2_HUMAN	Y	1062	ENSP00000400365:C1062Y	ENSP00000346769:C1062Y	C	+	2	0	LAMA2	129675709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.286000	0.89916	2.822000	0.97130	0.650000	0.86243	TGC		0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			24	109	0	0	0	1	0	24	109				
CHD4	1108	broad.mit.edu	37	12	6687287	6687287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6687287C>T	ENST00000357008.2	-	36	5299	c.5136G>A	c.(5134-5136)tgG>tgA	p.W1712*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.W1740*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W1737*|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1712	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CTTCATTCTGCCAAAGGGAGT	0.488																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(5218-5220)tgG>tgA		chromodomain helicase DNA binding protein 4							79.0	74.0	76.0					12																	6687287		2203	4300	6503	SO:0001587	stop_gained	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6687287C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5136G>A	12.37:g.6687287C>T	ENSP00000349508:p.Trp1712*					CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.W1712*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W1737*	p.W1740*			Q14839	CHD4_HUMAN			35	5383	-			1712			Required for interaction with PCNT.		Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	37	c.5220G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	47	13.235734	0.99729	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	X	1737;1705;1740;1712;1686	.	ENSP00000312419:W1740X	W	-	3	0	CHD4	6557548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	TGG		0.488	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		73	282	0	0	0	1	0	73	282				
RAVER1	125950	broad.mit.edu	37	19	10434065	10434065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10434065C>T	ENST00000293677.6	-	4	1066	c.985G>A	c.(985-987)Gct>Act	p.A329T	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	312	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCTGGGCAGCGATGAGAGCG	0.721																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(985-987)Gct>Act		ribonucleoprotein, PTB-binding 1							10.0	13.0	12.0					19																	10434065		1953	4121	6074	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434065C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.985G>A	19.37:g.10434065C>T	ENSP00000293677:p.Ala329Thr						p.A329T	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	1066	-			312			Interaction with PTBP1 (By similarity).		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.985G>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554745	0.65425	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.13089	2.62	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.12050	0.0293	L	0.53249	1.67	0.50171	D	0.999859	P	0.37441	0.595	B	0.19148	0.024	T	0.09164	-1.0687	10	0.33141	T	0.24	-8.3268	14.9961	0.71433	0.0:1.0:0.0:0.0	.	329	E9PAU2	.	T	329;312	ENSP00000293677:A329T	ENSP00000293677:A329T	A	-	1	0	RAVER1	10295065	1.000000	0.71417	0.995000	0.50966	0.880000	0.50808	7.279000	0.78599	2.142000	0.66516	0.511000	0.50034	GCT		0.721	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		13	98	0	0	0	1	0	13	98				
USP7	7874	broad.mit.edu	37	16	8993578	8993578	+	Silent	SNP	G	G	A	rs372148483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8993578G>A	ENST00000344836.4	-	22	2544	c.2346C>T	c.(2344-2346)acC>acT	p.T782T	USP7_ENST00000381886.4_Silent_p.T766T|USP7_ENST00000535863.1_Silent_p.T683T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	782	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTCCTTTGCGGTGGGTAATT	0.428																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2344-2346)acC>acT		ubiquitin specific peptidase 7 (herpes virus-associated)		G		1,4393	2.1+/-5.4	0,1,2196	151.0	132.0	139.0		2346	-11.4	0.2	16		139	0,8600		0,0,4300	no	coding-synonymous	USP7	NM_003470.2		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		782/1103	8993578	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8993578G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2346C>T	16.37:g.8993578G>A						USP7_ENST00000381886.4_Silent_p.T766T|USP7_ENST00000535863.1_Silent_p.T683T	p.T782T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			22	2544	-			782			Interaction with ICP0/VMW110.		A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2346C>T	CCDS32385.1																																																																																				0.428	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			80	280	0	0	0	1	0	80	280				
RRAD	6236	broad.mit.edu	37	16	66956090	66956090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66956090C>A	ENST00000299759.6	-	5	1066	c.816G>T	c.(814-816)gaG>gaT	p.E272D	RRAD_ENST00000420652.1_Missense_Mutation_p.E272D			P55042	RAD_HUMAN	Ras-related associated with diabetes	272					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCCAAGGCTCTCTCGCCTCC	0.607																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(814-816)gaG>gaT		Ras-related associated with diabetes							97.0	77.0	84.0					16																	66956090		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956090C>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.816G>T	16.37:g.66956090C>A	ENSP00000299759:p.Glu272Asp					RRAD_ENST00000420652.1_Missense_Mutation_p.E272D	p.E272D			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	1066	-		Ovarian(137;0.192)	272					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.816G>T	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241458	0.79912	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.68181	-0.31;-0.31	5.93	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.77103	2.36	0.51482	D	0.999929	D	0.58970	0.984	D	0.66979	0.948	T	0.75233	-0.3390	10	0.42905	T	0.14	.	8.2417	0.31665	0.0:0.5943:0.0:0.4057	.	272	P55042	RAD_HUMAN	D	272	ENSP00000388744:E272D;ENSP00000299759:E272D	ENSP00000299759:E272D	E	-	3	2	RRAD	65513591	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.302000	0.43637	0.838000	0.34948	0.561000	0.74099	GAG		0.607	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		31	336	1	0	6.84511e-11	1	7.27868e-11	31	336				
ABCA5	23461	broad.mit.edu	37	17	67266820	67266820	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67266820A>G	ENST00000392676.3	-	22	3028	c.2964T>C	c.(2962-2964)agT>agC	p.S988S	ABCA5_ENST00000588877.1_Silent_p.S988S|ABCA5_ENST00000392677.2_Silent_p.S989S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	988					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GATAGTAGTTACTAATGATAT	0.294																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(2962-2964)agT>agC		ATP-binding cassette, sub-family A (ABC1), member 5							92.0	104.0	100.0					17																	67266820		2201	4268	6469	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67266820A>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2964T>C	17.37:g.67266820A>G						ABCA5_ENST00000392677.2_Silent_p.S989S|ABCA5_ENST00000588877.1_Silent_p.S988S	p.S988S			Q8WWZ7	ABCA5_HUMAN			22	3028	-	Breast(10;3.72e-11)		988					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.2964T>C	CCDS11685.1																																																																																				0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		120	489	0	0	0	1	0	120	489				
COG4	25839	broad.mit.edu	37	16	70534950	70534950	+	Missense_Mutation	SNP	C	C	T	rs146268306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70534950C>T	ENST00000323786.5	-	9	1127	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	365					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.R369H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAGCTCACTGCGGGCATTCAT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19193	0.0		0.001	False		,,,				2504	0.0					ENST00000323786.5																			1	Substitution - Missense(1)	p.R369H(1)	large_intestine(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(1105-1107)cGc>cAc		component of oligomeric golgi complex 4							103.0	88.0	93.0					16																	70534950		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70534950C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1106G>A	16.37:g.70534950C>T	ENSP00000315775:p.Arg369His						p.R369H	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			9	1127	-		Ovarian(137;0.0694)	365					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1106G>A	CCDS10892.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.541253	0.96474	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.55930	0.49	5.84	5.84	0.93424	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.78066	-0.2349	10	0.87932	D	0	-10.7016	20.1551	0.98106	0.0:1.0:0.0:0.0	.	275;364;365	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	H	369;365;27	ENSP00000315775:R369H	ENSP00000315775:R369H	R	-	2	0	COG4	69092451	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.427000	0.80284	2.760000	0.94817	0.655000	0.94253	CGC		0.478	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			50	239	0	0	0	1	0	50	239				
B3GNT2	10678	broad.mit.edu	37	2	62449557	62449557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62449557C>T	ENST00000301998.4	+	2	454	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	68					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GAAGCTGAACCGGCAGTACAA	0.512																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(202-204)Cgg>Tgg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							192.0	222.0	212.0					2																	62449557		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449557C>T	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.202C>T	2.37:g.62449557C>T	ENSP00000305595:p.Arg68Trp					B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	p.R68W	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	454	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		68					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.202C>T	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913331	0.17907	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.29655	1.56;1.56	5.75	1.85	0.25348	.	0.860794	0.10728	N	0.640914	T	0.33904	0.0879	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38607	-0.9653	10	0.66056	D	0.02	.	15.42	0.75003	0.462:0.538:0.0:0.0	.	68	Q9NY97	B3GN2_HUMAN	W	68	ENSP00000305595:R68W;ENSP00000384692:R68W	ENSP00000305595:R68W	R	+	1	2	B3GNT2	62303061	0.000000	0.05858	0.449000	0.26957	0.907000	0.53573	-0.074000	0.11450	0.431000	0.26258	-0.262000	0.10625	CGG		0.512	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		608	1663	0	0	0	1	0	608	1663				
MCM6	4175	broad.mit.edu	37	2	136610469	136610469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610469A>G	ENST00000264156.2	-	12	1703	c.1643T>C	c.(1642-1644)aTt>aCt	p.I548T	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	548	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GCGCCTGGCAATGGCATAATC	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1642-1644)aTt>aCt		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						91.0	86.0	88.0					2																	136610469		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136610469A>G		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1643T>C	2.37:g.136610469A>G	ENSP00000264156:p.Ile548Thr					MCM6_ENST00000492091.1_Intron	p.I548T	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	12	1703	-			548			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1643T>C	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457286	0.84317	.	.	ENSG00000076003	ENST00000264156	T	0.09255	3.0	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.91090	3.175	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.54105	-0.8343	10	0.87932	D	0	-18.6403	16.0818	0.81010	1.0:0.0:0.0:0.0	.	548	Q14566	MCM6_HUMAN	T	548	ENSP00000264156:I548T	ENSP00000264156:I548T	I	-	2	0	MCM6	136326939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.904000	0.92590	2.206000	0.71126	0.455000	0.32223	ATT		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		67	201	0	0	0	1	0	67	201				
NOS2	4843	broad.mit.edu	37	17	26115921	26115921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26115921G>A	ENST00000313735.6	-	4	465	c.232C>T	c.(232-234)Cca>Tca	p.P78S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	78					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GAGGACAATGGGGTTGCATCC	0.537																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(232-234)Cca>Tca		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						155.0	156.0	156.0					17																	26115921		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26115921G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.232C>T	17.37:g.26115921G>A	ENSP00000327251:p.Pro78Ser						p.P78S	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			4	465	-			78					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.232C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672902	0.29693	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01629	4.72	5.86	2.53	0.30540	.	0.329526	0.28114	N	0.016542	T	0.01695	0.0054	L	0.40543	1.245	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.17979	0.02;0.003	T	0.43605	-0.9381	10	0.36615	T	0.2	.	4.3575	0.11185	0.0824:0.1292:0.5762:0.2122	.	78;78	F8WEM3;P35228	.;NOS2_HUMAN	S	78	ENSP00000327251:P78S	ENSP00000305638:P78S	P	-	1	0	NOS2	23140048	0.965000	0.33210	0.007000	0.13788	0.017000	0.09413	1.137000	0.31479	1.489000	0.48450	0.650000	0.86243	CCA		0.537	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		140	662	0	0	0	1	0	140	662				
FIGN	55137	broad.mit.edu	37	2	164468186	164468186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164468186G>A	ENST00000333129.3	-	3	470	c.156C>T	c.(154-156)taC>taT	p.Y52Y	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	52					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCGCCCAGGCGTACTGATAGG	0.507																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(154-156)taC>taT		fidgetin							132.0	132.0	132.0					2																	164468186		2044	4195	6239	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468186G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.156C>T	2.37:g.164468186G>A						FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	p.Y52Y	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	470	-			52					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.156C>T	CCDS2221.2																																																																																				0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		132	583	0	0	0	1	0	132	583				
INTS10	55174	broad.mit.edu	37	8	19681555	19681555	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19681555G>A	ENST00000397977.3	+	7	1234	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	279					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AAAGGAAGACGGTAATAAATA	0.353																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.e7+1		integrator complex subunit 10							113.0	107.0	109.0					8																	19681555		1855	4089	5944	SO:0001630	splice_region_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19681555G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.836+1G>A	8.37:g.19681555G>A							p.R279_splice	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	7	1234	+			279					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Splice_Site	SNP	ENST00000397977.3	37	c.836_splice	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876160	0.91664	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73388	-0.3998	9	0.51188	T	0.08	-10.739	18.5013	0.90882	0.0:0.0:1.0:0.0	.	279	Q9NVR2	INT10_HUMAN	Q	279	.	ENSP00000381064:R279Q	R	+	2	0	INTS10	19725835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.717000	0.92951	0.650000	0.86243	CGA		0.353	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	Missense_Mutation	81	382	0	0	0	1	0	81	382				
TTC37	9652	broad.mit.edu	37	5	94814107	94814107	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94814107C>A	ENST00000358746.2	-	40	4550	c.4252G>T	c.(4252-4254)Gct>Tct	p.A1418S		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1418						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCTCTGCAGCTCTCATCATT	0.443																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4252-4254)Gct>Tct		tetratricopeptide repeat domain 37							114.0	101.0	105.0					5																	94814107		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94814107C>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4252G>T	5.37:g.94814107C>A	ENSP00000351596:p.Ala1418Ser						p.A1418S	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			40	4550	-			1418					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4252G>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	c	19.19	3.778824	0.70107	.	.	ENSG00000198677	ENST00000358746	T	0.63913	-0.07	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.239529	0.43260	D	0.000592	T	0.58637	0.2136	L	0.27053	0.805	0.28065	N	0.932795	P	0.45283	0.855	P	0.48598	0.583	T	0.51568	-0.8689	10	0.13853	T	0.58	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	1418	Q6PGP7	TTC37_HUMAN	S	1418	ENSP00000351596:A1418S	ENSP00000351596:A1418S	A	-	1	0	TTC37	94839863	0.999000	0.42202	0.991000	0.47740	0.916000	0.54674	4.296000	0.59055	2.686000	0.91538	0.645000	0.84053	GCT		0.443	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		59	316	1	0	2.73361e-28	1	3.17826e-28	59	316				
OR2J2	26707	broad.mit.edu	37	6	29142140	29142140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29142140G>A	ENST00000377167.2	+	1	830	c.728G>A	c.(727-729)gGa>gAa	p.G243E		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGGACATGTGGAGCCCATCTT	0.463																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(727-729)gGa>gAa		olfactory receptor, family 2, subfamily J, member 2							133.0	118.0	122.0					6																	29142140		1931	4133	6064	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142140G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.728G>A	6.37:g.29142140G>A	ENSP00000366372:p.Gly243Glu						p.G243E	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	830	+			243					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.728G>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406875	0.11754	.	.	ENSG00000204700	ENST00000377167	T	0.37752	1.18	2.0	0.884	0.19182	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48390	0.1497	M	0.91459	3.21	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.22277	-1.0221	9	0.87932	D	0	.	3.8844	0.09091	0.0:0.2146:0.3755:0.4099	.	243	O76002	OR2J2_HUMAN	E	243	ENSP00000366372:G243E	ENSP00000366372:G243E	G	+	2	0	OR2J2	29250119	0.000000	0.05858	0.790000	0.31976	0.631000	0.37964	-0.239000	0.08965	1.101000	0.41535	0.205000	0.17691	GGA		0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			15	674	0	0	0	1	0	15	674				
CECR5	27440	broad.mit.edu	37	22	17619225	17619225	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17619225A>G	ENST00000336737.4	-	8	983	c.958T>C	c.(958-960)Tac>Cac	p.Y320H	CECR5_ENST00000399852.3_Missense_Mutation_p.Y120H|CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	320						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGGCGCCGTATACGTCAGAC	0.557																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(958-960)Tac>Cac		cat eye syndrome chromosome region, candidate 5							46.0	45.0	45.0					22																	17619225		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619225A>G	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.958T>C	22.37:g.17619225A>G	ENSP00000337358:p.Tyr320His					CECR5_ENST00000399852.3_Missense_Mutation_p.Y120H|CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H	p.Y320H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			8	983	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	320					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.958T>C	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995841	0.54147	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.23147	1.92;1.92;1.92	4.47	4.47	0.54385	HAD-like domain (2);	0.058061	0.64402	D	0.000001	T	0.51295	0.1666	M	0.84846	2.72	0.47214	D	0.999357	D;D;D;D	0.89917	0.96;1.0;1.0;1.0	P;D;D;D	0.80764	0.879;0.994;0.968;0.992	T	0.54337	-0.8309	10	0.17369	T	0.5	-9.4427	13.9375	0.64034	1.0:0.0:0.0:0.0	.	290;120;320;184	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	H	290;320;120	ENSP00000155674:Y290H;ENSP00000337358:Y320H;ENSP00000382745:Y120H	ENSP00000155674:Y290H	Y	-	1	0	CECR5	15999225	1.000000	0.71417	0.972000	0.41901	0.005000	0.04900	8.591000	0.90824	1.880000	0.54463	0.459000	0.35465	TAC		0.557	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		52	264	0	0	0	1	0	52	264				
UNC13B	10497	broad.mit.edu	37	9	35381663	35381663	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35381663T>C	ENST00000378495.3	+	19	2577	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	UNC13B_ENST00000396787.1_Silent_p.I797I|UNC13B_ENST00000378496.4_Silent_p.I785I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	785					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAAGAAATTGTGGATGAAT	0.517																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2353-2355)atT>atC		unc-13 homolog B (C. elegans)							205.0	189.0	194.0					9																	35381663		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35381663T>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2355T>C	9.37:g.35381663T>C						UNC13B_ENST00000378496.4_Silent_p.I785I|UNC13B_ENST00000396787.1_Silent_p.I797I	p.I785I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		19	2577	+	all_epithelial(49;0.212)		785					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.2355T>C	CCDS6579.1																																																																																				0.517	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		125	644	0	0	0	1	0	125	644				
HERC2P3	283755	broad.mit.edu	37	15	20588595	20588595	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20588595C>T	ENST00000428453.1	-	0	4155							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TAATTTGAGGCTGTTGCATTT	0.423																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															170.0	126.0	141.0					15																	20588595		2178	4241	6419			0							g.chr15:20588595C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588595C>T														0	4155	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.423	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		43	219	0	0	0	1	0	43	219				
SPATA31D1	389763	broad.mit.edu	37	9	84609877	84609877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84609877C>T	ENST00000344803.2	+	4	4539	c.4492C>T	c.(4492-4494)Cag>Tag	p.Q1498*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1498					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAGGACAGACAGCCCCAGAA	0.483																																						ENST00000344803.2																			0											c.(4492-4494)Cag>Tag		SPATA31 subfamily D, member 1							59.0	58.0	58.0					9																	84609877		2027	4175	6202	SO:0001587	stop_gained	389763							g.chr9:84609877C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4492C>T	9.37:g.84609877C>T	ENSP00000341988:p.Gln1498*						p.Q1498*	NM_001001670.2	NP_001001670.1					4	4539	+									Nonsense_Mutation	SNP	ENST00000344803.2	37	c.4492C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	37	6.041485	0.97226	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.67	-5.34	0.02705	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	10.7897	0.1504	0.00092	0.3035:0.2159:0.1499:0.3307	.	.	.	.	X	1498	.	ENSP00000341988:Q1498X	Q	+	1	0	FAM75D1	83799697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.617000	0.05584	-1.408000	0.02040	-0.895000	0.02911	CAG		0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		29	169	0	0	0	1	0	29	169				
PRDM5	11107	broad.mit.edu	37	4	121774643	121774643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121774643C>T	ENST00000264808.3	-	3	470	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	77	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGGAGTGCCGTGGGTTGGT	0.443																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(229-231)cGg>cAg		PR domain containing 5							297.0	292.0	293.0					4																	121774643		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121774643C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.230G>A	4.37:g.121774643C>T	ENSP00000264808:p.Arg77Gln					PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q|PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q	p.R77Q	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			3	470	-			77			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.230G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096555	0.94197	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.72	5.72	0.89469	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	N	0.17474	0.49	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.809;0.999	D;D;B;D	0.77557	0.978;0.99;0.252;0.978	T	0.67019	-0.5776	10	0.15499	T	0.54	-4.7371	19.011	0.92872	0.0:1.0:0.0:0.0	.	77;77;77;77	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	Q	77	ENSP00000264808:R77Q;ENSP00000422309:R77Q;ENSP00000404832:R77Q;ENSP00000377955:R77Q	ENSP00000264808:R77Q	R	-	2	0	PRDM5	121994093	1.000000	0.71417	0.900000	0.35374	0.993000	0.82548	5.315000	0.65810	2.857000	0.98124	0.650000	0.86243	CGG		0.443	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			293	1353	0	0	0	1	0	293	1353				
RAP1GAP	5909	broad.mit.edu	37	1	21936611	21936611	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21936611A>G	ENST00000374765.4	-	14	1200		c.e14+1		RAP1GAP_ENST00000542643.2_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000374757.3_5'Flank	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AAGAGCGCCCACCTTGTAGAG	0.627																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.e15+1		RAP1 GTPase activating protein							28.0	27.0	27.0					1																	21936611		2203	4300	6503	SO:0001630	splice_region_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936611A>G	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.999+1T>C	1.37:g.21936611A>G						RAP1GAP_ENST00000374765.4_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site		NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	15	1302	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)						J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Splice_Site	SNP	ENST00000374765.4	37		CCDS218.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.381459	0.61845	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0701	0.64854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAP1GAP	21809198	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	7.473000	0.81007	2.279000	0.76181	0.459000	0.35465	.		0.627	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885	Intron	29	124	0	0	0	1	0	29	124				
TTN	7273	broad.mit.edu	37	2	179454840	179454840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454840C>A	ENST00000591111.1	-	254	56913	c.56689G>T	c.(56689-56691)Gaa>Taa	p.E18897*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E20538*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18897	Ig-like 107.				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)			CTAACAGCTTCTTTAATTTGT	0.448																																						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.(61612-61614)Gaa>Taa		titin							141.0	138.0	139.0					2																	179454840		1924	4119	6043	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454840C>A	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.56689G>T	2.37:g.179454840C>A	ENSP00000465570:p.Glu18897*					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E18897*|TTN-AS1_ENST00000592689.1_RNA	p.E20538*	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)		304	61836	-			18897			Fibronectin type-III 49.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.61612G>T		.	.	.	.	.	.	.	.	.	.	C	61	54.036070	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5172	0.39113	0.1431:0.7861:0.0:0.0708	.	.	.	.	X	17970;11473;11665;11598;11471	.	ENSP00000340554:E11665X	E	-	1	0	TTN	179163086	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.784000	0.62411	2.844000	0.97970	0.650000	0.86243	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		154	337	1	0	9.55336e-64	1	1.2063e-63	154	337				
ACACA	31	broad.mit.edu	37	17	35454098	35454098	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35454098T>C	ENST00000394406.2	-	54	6803	c.6613A>G	c.(6613-6615)Atc>Gtc	p.I2205V	ACACA_ENST00000353139.5_Missense_Mutation_p.I2242V|ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V|ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2205					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAATCCAGGATATCCTACATG	0.483																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6724-6726)Atc>Gtc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						62.0	57.0	59.0					17																	35454098		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35454098T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6613A>G	17.37:g.35454098T>C	ENSP00000377928:p.Ile2205Val					ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000394406.2_Missense_Mutation_p.I2205V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V|ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V	p.I2242V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			54	7205	-		Breast(25;0.00157)|Ovarian(249;0.15)	2205					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6724A>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.65	5.65	0.86999	Carboxyl transferase (1);	0.048645	0.85682	D	0.000000	T	0.14527	0.0351	N	0.25789	0.76	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.16289	0.002;0.015;0.003;0.001;0.0	T	0.08027	-1.0742	10	0.02654	T	1	-15.445	9.0636	0.36449	0.0:0.1424:0.0:0.8576	.	243;904;2242;2205;2147	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	V	2242;2147;2205;2229;2127;904;331	ENSP00000344789:I2242V;ENSP00000353898:I2147V;ENSP00000377928:I2205V;ENSP00000335323:I2127V;ENSP00000354565:I331V	ENSP00000335323:I2127V	I	-	1	0	ACACA	32528211	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.479000	0.53165	2.152000	0.67230	0.528000	0.53228	ATC		0.483	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		37	216	0	0	0	1	0	37	216				
UGT3A1	133688	broad.mit.edu	37	5	35965630	35965630	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965630C>A	ENST00000274278.3	-	4	1058	c.701G>T	c.(700-702)aGg>aTg	p.R234M	UGT3A1_ENST00000333811.4_Missense_Mutation_p.R180M|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R200M|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234M|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	234						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.438																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(700-702)aGg>aTg		UDP glycosyltransferase 3 family, polypeptide A1							116.0	120.0	119.0					5																	35965630		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965630C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.701G>T	5.37:g.35965630C>A	ENSP00000274278:p.Arg234Met					UGT3A1_ENST00000333811.4_Missense_Mutation_p.R180M|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234M|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R200M	p.R234M	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	1058	-	all_lung(31;0.000197)		234					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.701G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080064	0.36662	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	3.05	1.11	0.20524	.	0.164576	0.37136	N	0.002234	T	0.66268	0.2772	L	0.56199	1.76	0.27177	N	0.960757	D;D;P;D	0.89917	1.0;0.994;0.93;0.995	D;D;P;D	0.80764	0.994;0.971;0.79;0.971	T	0.58668	-0.7596	10	0.87932	D	0	.	8.5558	0.33480	0.0:0.7899:0.0:0.2101	.	200;234;180;234	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	M	234;234;200;180	ENSP00000274278:R234M;ENSP00000427079:R234M;ENSP00000426100:R200M;ENSP00000328033:R180M	ENSP00000274278:R234M	R	-	2	0	UGT3A1	36001387	0.765000	0.28485	0.887000	0.34795	0.557000	0.35523	1.062000	0.30555	0.083000	0.17047	0.313000	0.20887	AGG		0.438	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		84	406	1	0	9.34078e-37	1	1.11935e-36	84	406				
TBXAS1	6916	broad.mit.edu	37	7	139655298	139655298	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139655298G>A	ENST00000336425.5	+	11	969	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A195T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	194				A -> P (in Ref. 2; AAA60617/AAA60618, 4; AAC01761, 5; AAF99269/AAF99270/AAF99271/ AAF99272/AAF99273/AAF99274/AAF99275/ AAF99276/AAF99277/AAF99278/AAF99279 and 10; AAA36742). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TGCCAGCGTCGCCTTTGGCAC	0.567																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(583-585)Gcc>Acc		thromboxane A synthase 1 (platelet)							98.0	99.0	99.0					7																	139655298		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139655298G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.580G>A	7.37:g.139655298G>A	ENSP00000338087:p.Ala194Thr					TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A194T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T	p.A195T	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			11	1121	+	Melanoma(164;0.0142)		194					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.583G>A		.	.	.	.	.	.	.	.	.	.	G	18.35	3.604960	0.66445	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.79	4.9	0.64082	.	0.052582	0.85682	D	0.000000	D	0.84520	0.5490	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.991;0.982;0.998;1.0;0.991;0.998;0.998	D	0.87738	0.2583	10	0.66056	D	0.02	.	16.246	0.82445	0.0:0.0:0.8662:0.1338	.	175;241;146;127;195;195;194	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	T	127;195;194;241;195;195;194;240;194	ENSP00000388736:A127T;ENSP00000263552:A195T;ENSP00000338087:A194T;ENSP00000389414:A241T;ENSP00000392361:A195T;ENSP00000392702:A195T;ENSP00000402536:A194T;ENSP00000411274:A240T;ENSP00000411326:A194T	ENSP00000263552:A195T	A	+	1	0	TBXAS1	139301767	1.000000	0.71417	0.887000	0.34795	0.021000	0.10359	8.723000	0.91458	1.428000	0.47296	-0.182000	0.12963	GCC		0.567	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			126	570	0	0	0	1	0	126	570				
GLI1	2735	broad.mit.edu	37	12	57864247	57864247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864247C>T	ENST00000228682.2	+	12	1815	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	GLI1_ENST00000546141.1_Missense_Mutation_p.A534V|GLI1_ENST00000543426.1_Missense_Mutation_p.A447V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	575					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GAGAATGGAGCATCCTCCCTG	0.632																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1723-1725)gCa>gTa		GLI family zinc finger 1							64.0	60.0	62.0					12																	57864247		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864247C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1724C>T	12.37:g.57864247C>T	ENSP00000228682:p.Ala575Val					GLI1_ENST00000543426.1_Missense_Mutation_p.A447V|GLI1_ENST00000546141.1_Missense_Mutation_p.A534V	p.A575V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1815	+			575					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1724C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	9.677	1.148306	0.21288	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.14266	2.7;2.52;2.61;2.61	3.86	2.03	0.26663	.	0.476605	0.17850	N	0.159887	T	0.10208	0.0250	L	0.42245	1.32	0.32065	N	0.595215	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	10	0.41790	T	0.15	.	4.1612	0.10284	0.0:0.5937:0.1928:0.2135	.	575	P08151	GLI1_HUMAN	V	447;575;534;534	ENSP00000437607:A447V;ENSP00000228682:A575V;ENSP00000441006:A534V;ENSP00000434408:A534V	ENSP00000228682:A575V	A	+	2	0	GLI1	56150514	0.000000	0.05858	0.943000	0.38184	0.953000	0.61014	-0.088000	0.11198	0.596000	0.29794	0.491000	0.48974	GCA		0.632	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		75	403	0	0	0	1	0	75	403				
CADM3	57863	broad.mit.edu	37	1	159163241	159163241	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163241T>G	ENST00000368125.4	+	4	568	c.411T>G	c.(409-411)ggT>ggG	p.G137G	CADM3_ENST00000368124.4_Silent_p.G171G|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	137	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCATCACTGGTTATAAATCTT	0.542																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(409-411)ggT>ggG		cell adhesion molecule 3							106.0	110.0	109.0					1																	159163241		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163241T>G	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.411T>G	1.37:g.159163241T>G						CADM3_ENST00000368124.4_Silent_p.G171G	p.G137G	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	568	+	all_hematologic(112;0.0429)		137			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.411T>G	CCDS44251.1																																																																																				0.542	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		44	441	0	0	0	1	0	44	441				
ZNF85	7639	broad.mit.edu	37	19	21131671	21131671	+	Silent	SNP	C	C	A	rs199813082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131671C>A	ENST00000328178.8	+	4	464	c.351C>A	c.(349-351)ggC>ggA	p.G117G	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.G84G|ZNF85_ENST00000601023.1_Silent_p.G58G	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	117					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGAAAAGGCTGTGAAAGTA	0.353																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(172-174)ggC>ggA		zinc finger protein 85							60.0	61.0	61.0					19																	21131671		2203	4299	6502	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131671C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.351C>A	19.37:g.21131671C>A						ZNF85_ENST00000345030.6_Silent_p.G84G|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000328178.8_Silent_p.G117G	p.G58G			Q03923	ZNF85_HUMAN			2	820	+			117			KRAB.		B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.174C>A	CCDS32977.1																																																																																				0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		57	288	1	0	1.67886e-27	1	1.94484e-27	57	288				
CP	1356	broad.mit.edu	37	3	148895751	148895751	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148895751A>G	ENST00000264613.6	-	17	3156	c.2894T>C	c.(2893-2895)aTg>aCg	p.M965T		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	965	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTTCCAAACATTCTTCCATT	0.343																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2893-2895)aTg>aCg		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						189.0	163.0	172.0					3																	148895751		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148895751A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2894T>C	3.37:g.148895751A>G	ENSP00000264613:p.Met965Thr						p.M965T	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3156	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	965			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2894T>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137328	0.56936	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99784	-6.74;-6.74;-6.74	5.78	5.78	0.91487	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.236543	0.51477	D	0.000095	D	0.98839	0.9608	N	0.16201	0.385	0.51012	D	0.999904	B;P;B;B	0.39404	0.074;0.672;0.158;0.137	B;P;B;B	0.45474	0.096;0.482;0.135;0.276	D	0.99958	1.1678	10	0.33940	T	0.23	-8.8801	16.1149	0.81301	1.0:0.0:0.0:0.0	.	965;965;965;678	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	T	100;965;748	ENSP00000420367:M100T;ENSP00000264613:M965T;ENSP00000420545:M748T	ENSP00000264613:M965T	M	-	2	0	CP	150378441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.317000	0.96327	2.205000	0.71048	0.455000	0.32223	ATG		0.343	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		91	402	0	0	0	1	0	91	402				
WNT1	7471	broad.mit.edu	37	12	49373312	49373312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49373312G>A	ENST00000293549.3	+	2	202	c.166G>A	c.(166-168)Gta>Ata	p.V56I		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	56					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCTGCAACTGGTACTCGAGCC	0.582																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(166-168)Gta>Ata		wingless-type MMTV integration site family, member 1							77.0	75.0	76.0					12																	49373312		2203	4300	6503	SO:0001583	missense	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49373312G>A	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.166G>A	12.37:g.49373312G>A	ENSP00000293549:p.Val56Ile						p.V56I	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	2	202	+			56					Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	c.166G>A	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360417	0.24598	.	.	ENSG00000125084	ENST00000293549	T	0.75938	-0.98	4.84	4.84	0.62591	.	0.660669	0.12351	U	0.476582	T	0.56499	0.1989	N	0.08118	0	0.58432	D	0.999994	B	0.20780	0.048	B	0.19666	0.026	T	0.49615	-0.8921	10	0.10636	T	0.68	.	16.8853	0.86074	0.0:0.0:1.0:0.0	.	56	P04628	WNT1_HUMAN	I	56	ENSP00000293549:V56I	ENSP00000293549:V56I	V	+	1	0	WNT1	47659579	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.254000	0.78329	2.501000	0.84356	0.655000	0.94253	GTA		0.582	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			92	431	0	0	0	1	0	92	431				
CELSR2	1952	broad.mit.edu	37	1	109811248	109811248	+	Missense_Mutation	SNP	C	C	T	rs374375242		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811248C>T	ENST00000271332.3	+	18	6425	c.6364C>T	c.(6364-6366)Cgg>Tgg	p.R2122W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2122					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCCAACAAGCGGCACTGGGA	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(6364-6366)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2		C	TRP/ARG	0,4406		0,0,2203	42.0	42.0	42.0		6364	4.0	1.0	1		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2122/2924	109811248	1,13005	2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109811248C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6364C>T	1.37:g.109811248C>T	ENSP00000271332:p.Arg2122Trp						p.R2122W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	18	6425	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2122					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6364C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620167	0.66787	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.09911	2.93	4.9	3.96	0.45880	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.10035	0.0246	N	0.22421	0.69	0.35826	D	0.824974	D	0.76494	0.999	D	0.68765	0.96	T	0.07214	-1.0784	9	0.72032	D	0.01	.	11.3079	0.49347	0.1458:0.7219:0.1323:0.0	.	2122	Q9HCU4	CELR2_HUMAN	W	2122	ENSP00000271332:R2122W	ENSP00000271332:R2122W	R	+	1	2	CELSR2	109612771	0.770000	0.28543	1.000000	0.80357	0.995000	0.86356	0.632000	0.24583	1.248000	0.43934	0.561000	0.74099	CGG		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		20	196	0	0	0	1	0	20	196				
DIRAS2	54769	broad.mit.edu	37	9	93375522	93375522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375522G>A	ENST00000375765.3	-	2	976	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	196					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACATGATCACGCACTTGCCTT	0.562																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(586-588)tgC>tgT		DIRAS family, GTP-binding RAS-like 2							189.0	167.0	174.0					9																	93375522		2203	4300	6503	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375522G>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.588C>T	9.37:g.93375522G>A							p.C196C	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	976	-			196					B3KVM2	Silent	SNP	ENST00000375765.3	37	c.588C>T	CCDS6687.1																																																																																				0.562	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			81	365	0	0	0	1	0	81	365				
SMOC1	64093	broad.mit.edu	37	14	70346414	70346414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70346414G>A	ENST00000381280.4	+	1	272	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	7					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCGCGCTGCGCCCGCCTGCT	0.736																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(19-21)Gcc>Acc		SPARC related modular calcium binding 1							6.0	7.0	7.0					14																	70346414		2127	4163	6290	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70346414G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.19G>A	14.37:g.70346414G>A	ENSP00000370680:p.Ala7Thr					SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T	p.A7T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	1	272	+			7					A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.19G>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815761	0.32145	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57752	0.38;0.39	5.1	3.23	0.37069	.	0.925262	0.08828	U	0.887818	T	0.27063	0.0663	N	0.08118	0	0.21897	N	0.999486	B;B	0.29805	0.257;0.167	B;B	0.19666	0.026;0.012	T	0.13629	-1.0502	10	0.11182	T	0.66	-2.7874	7.5362	0.27712	0.0926:0.1659:0.7415:0.0	.	7;7	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	T	7	ENSP00000355110:A7T;ENSP00000370680:A7T	ENSP00000355110:A7T	A	+	1	0	SMOC1	69416167	0.973000	0.33851	1.000000	0.80357	0.343000	0.28985	0.343000	0.19944	1.141000	0.42275	0.306000	0.20318	GCC		0.736	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			11	62	0	0	0	1	0	11	62				
PPP2R3A	5523	broad.mit.edu	37	3	135722249	135722249	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135722249T>G	ENST00000264977.3	+	2	2526	c.1909T>G	c.(1909-1911)Tta>Gta	p.L637V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	637					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGGCCAATTTATCAGTCTG	0.418																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1909-1911)Tta>Gta		protein phosphatase 2, regulatory subunit B'', alpha							85.0	81.0	82.0					3																	135722249		2202	4300	6502	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135722249T>G	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1909T>G	3.37:g.135722249T>G	ENSP00000264977:p.Leu637Val					PPP2R3A_ENST00000490467.1_Intron	p.L637V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2526	+			637					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1909T>G	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	0.428	-0.904797	0.02453	.	.	ENSG00000073711	ENST00000264977	T	0.05717	3.4	5.57	-1.4	0.08968	.	1.303650	0.05116	N	0.489740	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44651	-0.9314	10	0.19147	T	0.46	.	0.2744	0.00236	0.2782:0.1742:0.286:0.2616	.	637	Q06190	P2R3A_HUMAN	V	637	ENSP00000264977:L637V	ENSP00000264977:L637V	L	+	1	2	PPP2R3A	137204939	0.000000	0.05858	0.507000	0.27676	0.939000	0.58152	-0.008000	0.12788	-0.146000	0.11274	0.460000	0.39030	TTA		0.418	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		78	333	0	0	0	1	0	78	333				
AHCTF1	25909	broad.mit.edu	37	1	247013133	247013133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013133G>A	ENST00000391829.2	-	33	6298	c.6175C>T	c.(6175-6177)Cgt>Tgt	p.R2059C	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2094C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2059	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCAATGAACGTTTTTGGCTT	0.383																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6280-6282)Cgt>Tgt		AT hook containing transcription factor 1							223.0	191.0	202.0					1																	247013133		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013133G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6175C>T	1.37:g.247013133G>A	ENSP00000375705:p.Arg2059Cys					AHCTF1_ENST00000391829.2_Missense_Mutation_p.R2059C|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C	p.R2094C			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6416	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2059			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6280C>T		.	.	.	.	.	.	.	.	.	.	G	6.668	0.491884	0.12702	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34472	1.36;1.36;1.36	5.84	-6.14	0.02111	.	1.881720	0.02109	N	0.054606	T	0.26195	0.0639	L	0.44542	1.39	0.09310	N	1	B;B	0.16603	0.018;0.011	B;B	0.10450	0.005;0.002	T	0.20107	-1.0285	10	0.56958	D	0.05	4.6019	2.6008	0.04866	0.1314:0.319:0.2688:0.2807	.	2094;2059	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	C	2094;2068;2059	ENSP00000355464:R2094C;ENSP00000355465:R2068C;ENSP00000375705:R2059C	ENSP00000355465:R2068C	R	-	1	0	AHCTF1	245079756	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.163000	0.09997	-1.113000	0.02981	-0.795000	0.03280	CGT		0.383	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		23	566	0	0	0	1	0	23	566				
ATN1	1822	broad.mit.edu	37	12	7046106	7046106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7046106G>T	ENST00000356654.4	+	5	1913	c.1676G>T	c.(1675-1677)aGc>aTc	p.S559I	ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	559	Involved in binding BAIAP2.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTGTCCTACAGCCAAGCAGGC	0.622																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1675-1677)aGc>aTc		atrophin 1							127.0	104.0	112.0					12																	7046106		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046106G>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1676G>T	12.37:g.7046106G>T	ENSP00000349076:p.Ser559Ile					ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	p.S559I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1913	+			559			Involved in binding BAIAP2.		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1676G>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	7.124	0.578461	0.13686	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.55930	0.49;0.49;0.49	3.46	2.53	0.30540	.	0.187035	0.25753	U	0.028527	T	0.33440	0.0863	N	0.22421	0.69	0.33143	D	0.544626	B	0.09022	0.002	B	0.11329	0.006	T	0.30060	-0.9991	10	0.33141	T	0.24	.	6.7927	0.23709	0.0942:0.0:0.7335:0.1723	.	559	P54259	ATN1_HUMAN	I	559;559;559;144	ENSP00000349076:S559I;ENSP00000379915:S559I;ENSP00000441744:S559I	ENSP00000229279:S144I	S	+	2	0	ATN1	6916367	0.978000	0.34361	1.000000	0.80357	0.608000	0.37181	1.073000	0.30691	0.751000	0.32900	0.586000	0.80456	AGC		0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		108	448	1	0	6.46527e-39	1	7.80444e-39	108	448				
SPTBN2	6712	broad.mit.edu	37	11	66456195	66456195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66456195G>A	ENST00000533211.1	-	31	6491	c.6160C>T	c.(6160-6162)Cgg>Tgg	p.R2054W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2054					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCGTGCCGCTTGATGAGG	0.637																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6160-6162)Cgg>Tgg		spectrin, beta, non-erythrocytic 2							72.0	59.0	63.0					11																	66456195		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66456195G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6160C>T	11.37:g.66456195G>A	ENSP00000432568:p.Arg2054Trp					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W	p.R2054W			O15020	SPTN2_HUMAN			31	6491	-			2054					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6160C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195842	0.78902	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.69306	-0.39;-0.39;-0.39	4.77	3.78	0.43462	.	0.062854	0.64402	D	0.000005	T	0.79522	0.4460	M	0.73430	2.235	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.81593	-0.0862	10	0.87932	D	0	.	11.9891	0.53166	0.0:0.0:0.7502:0.2498	.	2054	O15020	SPTN2_HUMAN	W	2054	ENSP00000432568:R2054W;ENSP00000311489:R2054W;ENSP00000433593:R2054W	ENSP00000311489:R2054W	R	-	1	2	SPTBN2	66212771	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.022000	0.49659	2.477000	0.83638	0.591000	0.81541	CGG		0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		57	222	0	0	0	1	0	57	222				
ZZEF1	23140	broad.mit.edu	37	17	3966072	3966072	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3966072G>T	ENST00000381638.2	-	30	4982	c.4858C>A	c.(4858-4860)Ctg>Atg	p.L1620M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1620							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGACAGGTCAGAAGTTCCAAC	0.428																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4858-4860)Ctg>Atg		zinc finger, ZZ-type with EF-hand domain 1							43.0	42.0	42.0					17																	3966072		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3966072G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4858C>A	17.37:g.3966072G>T	ENSP00000371051:p.Leu1620Met						p.L1620M	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			30	4982	-			1620					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4858C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738855	0.69304	.	.	ENSG00000074755	ENST00000381638	T	0.49139	0.79	5.66	3.68	0.42216	.	0.101413	0.48767	D	0.000168	T	0.63873	0.2548	M	0.64997	1.995	0.47245	D	0.99936	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65537	-0.6144	10	0.87932	D	0	-8.7289	11.9053	0.52708	0.1393:0.0:0.8607:0.0	.	1620;1620	O43149-2;O43149	.;ZZEF1_HUMAN	M	1620	ENSP00000371051:L1620M	ENSP00000371051:L1620M	L	-	1	2	ZZEF1	3912821	1.000000	0.71417	0.525000	0.27900	0.979000	0.70002	5.109000	0.64615	0.759000	0.33084	0.650000	0.86243	CTG		0.428	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		19	72	1	0	1.40151e-16	1	1.54097e-16	19	72				
RPS27	6232	broad.mit.edu	37	1	153964128	153964128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153964128G>T	ENST00000368567.4	+	3	240	c.202G>T	c.(202-204)Gga>Tga	p.G68*	RPS27_ENST00000493224.1_3'UTR|RPS27_ENST00000392558.4_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	68					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCCTACAGGAGGAAAAGC	0.413																																						ENST00000368567.4																			0				kidney(1)	1						c.(202-204)Gga>Tga		ribosomal protein S27							65.0	67.0	67.0					1																	153964128		2203	4300	6503	SO:0001587	stop_gained	6232				cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding	g.chr1:153964128G>T	U57847	CCDS1059.1	1q21	2011-04-06	2008-08-29		ENSG00000177954	ENSG00000177954		"""S ribosomal proteins"""	10416	protein-coding gene	gene with protein product	"""metallopanstimulin 1"""	603702	"""ribosomal protein S27 (metallopanstimulin 1)"""			8908372, 8407955	Standard	NM_001030		Approved	MPS-1, MPS1, S27	uc001fdv.3	P42677	OTTHUMG00000036591	ENST00000368567.4:c.202G>T	1.37:g.153964128G>T	ENSP00000357555:p.Gly68*					RPS27_ENST00000493224.1_3'UTR|RPS27_ENST00000392558.4_3'UTR	p.G68*	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	240	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		68					Q5T4L6	Nonsense_Mutation	SNP	ENST00000368567.4	37	c.202G>T	CCDS1059.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242058	0.79912	.	.	ENSG00000177954	ENST00000368567	.	.	.	5.35	5.35	0.76521	.	0.116646	0.31809	N	0.007037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.7422	17.8155	0.88632	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000357555:G68X	G	+	1	0	RPS27	152230752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.456000	0.97628	2.494000	0.84150	0.462000	0.41574	GGA		0.413	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1	NM_001030		6	231	1	0	0.00116845	1	0.00118049	6	231				
SATB2	23314	broad.mit.edu	37	2	200137187	200137187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137187G>A	ENST00000417098.1	-	11	2765	c.1949C>T	c.(1948-1950)gCt>gTt	p.A650V	SATB2_ENST00000443023.1_Missense_Mutation_p.A591V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V|SATB2_ENST00000260926.5_Missense_Mutation_p.A650V	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	650					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCCAGCTGAGCCGAAAGAGT	0.542																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1771-1773)gCt>gTt		SATB homeobox 2							137.0	122.0	127.0					2																	200137187		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137187G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1949C>T	2.37:g.200137187G>A	ENSP00000401112:p.Ala650Val					SATB2_ENST00000260926.5_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000417098.1_Missense_Mutation_p.A650V	p.A591V			Q9UPW6	SATB2_HUMAN			10	3237	-			650					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1772C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698599	0.88830	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.983;0.992	D	0.97639	1.0147	10	0.72032	D	0.01	-14.0989	19.762	0.96323	0.0:0.0:1.0:0.0	.	532;650	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	V	650;591;650;532;650	ENSP00000401112:A650V;ENSP00000388764:A591V;ENSP00000260926:A650V;ENSP00000388581:A532V;ENSP00000405420:A650V	ENSP00000260926:A650V	A	-	2	0	SATB2	199845432	1.000000	0.71417	0.341000	0.25589	0.936000	0.57629	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	GCT		0.542	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		88	469	0	0	0	1	0	88	469				
TAAR5	9038	broad.mit.edu	37	6	132909876	132909876	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132909876T>G	ENST00000258034.2	-	1	1001	c.950A>C	c.(949-951)aAa>aCa	p.K317T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	317					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGTGTGAGTTTCAGTGCCTT	0.468																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(949-951)aAa>aCa		trace amine associated receptor 5							106.0	101.0	103.0					6																	132909876		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132909876T>G	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.950A>C	6.37:g.132909876T>G	ENSP00000258034:p.Lys317Thr						p.K317T	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	1001	-	Breast(56;0.112)		317					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.950A>C	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.661767	0.29515	.	.	ENSG00000135569	ENST00000258034	T	0.42131	0.98	5.47	3.01	0.34805	.	0.075082	0.52532	D	0.000079	T	0.56863	0.2014	M	0.88512	2.96	0.38733	D	0.953723	D	0.71674	0.998	D	0.69479	0.964	T	0.66126	-0.6001	10	0.87932	D	0	-5.2115	11.3667	0.49677	0.0:0.0:0.2901:0.7099	.	317	O14804	TAAR5_HUMAN	T	317	ENSP00000258034:K317T	ENSP00000258034:K317T	K	-	2	0	TAAR5	132951569	0.001000	0.12720	0.981000	0.43875	0.025000	0.11179	0.066000	0.14489	0.472000	0.27344	0.533000	0.62120	AAA		0.468	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		70	238	0	0	0	1	0	70	238				
GAB4	128954	broad.mit.edu	37	22	17447087	17447087	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17447087G>A	ENST00000400588.1	-	6	1298	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	397										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGAGTGGGGAGCCAAGCAGGT	0.592																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1189-1191)ggC>ggT		GRB2-associated binding protein family, member 4							74.0	82.0	80.0					22																	17447087		2039	4215	6254	SO:0001819	synonymous_variant	128954							g.chr22:17447087G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1191C>T	22.37:g.17447087G>A							p.G397G	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			6	1298	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	397						Silent	SNP	ENST00000400588.1	37	c.1191C>T	CCDS42976.1																																																																																				0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		79	324	0	0	0	1	0	79	324				
NCF2	4688	broad.mit.edu	37	1	183546760	183546760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183546760G>T	ENST00000367535.3	-	3	591	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	NCF2_ENST00000418089.1_Missense_Mutation_p.L114I|NCF2_ENST00000367536.1_Missense_Mutation_p.L114I|NCF2_ENST00000413720.1_Missense_Mutation_p.L114I	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	114					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTGAACTGGAGCCCCAGGATC	0.517																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(340-342)Ctc>Atc		neutrophil cytosolic factor 2							104.0	103.0	104.0					1																	183546760		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183546760G>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.340C>A	1.37:g.183546760G>T	ENSP00000356505:p.Leu114Ile					NCF2_ENST00000367535.3_Missense_Mutation_p.L114I|NCF2_ENST00000367536.1_Missense_Mutation_p.L114I|NCF2_ENST00000418089.1_Missense_Mutation_p.L114I	p.L114I	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			3	614	-			114					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.340C>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199653	0.79015	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.69040	-0.24;-0.27;-0.37;-0.24	5.56	4.64	0.57946	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.86028	2.79	0.22280	N	0.999237	P;P;P	0.49635	0.925;0.926;0.661	P;P;P	0.57620	0.824;0.471;0.717	T	0.74386	-0.3682	10	0.72032	D	0.01	-8.1757	12.9702	0.58508	0.0:0.0:0.8375:0.1625	.	114;114;114	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	I	114;142;114;114;114	ENSP00000356506:L114I;ENSP00000399294:L114I;ENSP00000407217:L114I;ENSP00000356505:L114I	ENSP00000356505:L114I	L	-	1	0	NCF2	181813383	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.967000	0.76079	1.320000	0.45209	0.655000	0.94253	CTC		0.517	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		66	354	1	0	5.32961e-40	1	6.45334e-40	66	354				
PAPLN	89932	broad.mit.edu	37	14	73720627	73720627	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73720627C>T	ENST00000554301.1	+	11	1423	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	PAPLN_ENST00000427855.1_Silent_p.N420N|PAPLN_ENST00000381166.3_Silent_p.N420N|PAPLN_ENST00000340738.5_Silent_p.N393N|PAPLN_ENST00000555445.1_Silent_p.N420N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	420	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTGTAACCTGCAGCGCT	0.697																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1258-1260)aaC>aaT		papilin, proteoglycan-like sulfated glycoprotein							23.0	24.0	24.0					14																	73720627		2198	4295	6493	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73720627C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1260C>T	14.37:g.73720627C>T						PAPLN_ENST00000555445.1_Silent_p.N420N|PAPLN_ENST00000554301.1_Silent_p.N420N|PAPLN_ENST00000381166.3_Silent_p.N420N|PAPLN_ENST00000340738.5_Silent_p.N393N	p.N420N			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	12	1362	+			420			TSP type-1 3.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1260C>T																																																																																					0.697	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		19	200	0	0	0	1	0	19	200				
TUBB1	81027	broad.mit.edu	37	20	57599572	57599572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57599572G>A	ENST00000217133.1	+	4	1359	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	364					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCTGAGCATGGCCGCCACCTT	0.547																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(1090-1092)Gcc>Acc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						46.0	45.0	45.0					20																	57599572		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599572G>A	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1090G>A	20.37:g.57599572G>A	ENSP00000217133:p.Ala364Thr						p.A364T	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1359	+	all_lung(29;0.00711)		364						Missense_Mutation	SNP	ENST00000217133.1	37	c.1090G>A	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098505	0.76870	.	.	ENSG00000101162	ENST00000217133	D	0.84800	-1.9	5.54	5.54	0.83059	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.85710	2.77	0.54753	D	0.999988	P	0.46859	0.885	P	0.48770	0.589	D	0.91859	0.5498	10	0.87932	D	0	.	18.4559	0.90720	0.0:0.0:1.0:0.0	.	364	Q9H4B7	TBB1_HUMAN	T	364	ENSP00000217133:A364T	ENSP00000217133:A364T	A	+	1	0	TUBB1	57032967	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	2.904000	0.48719	2.614000	0.88457	0.655000	0.94253	GCC		0.547	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		55	196	0	0	0	1	0	55	196				
DENND1A	57706	broad.mit.edu	37	9	126219702	126219702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126219702G>A	ENST00000373624.2	-	15	1312	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	DENND1A_ENST00000373618.1_Nonsense_Mutation_p.R339*|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.R113*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.R371*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.R341*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.R339*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	371	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGATCTAATCGACCATCAATA	0.428																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1111-1113)Cga>Tga		DENN/MADD domain containing 1A							104.0	101.0	102.0					9																	126219702		2203	4300	6503	SO:0001587	stop_gained	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126219702G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1111C>T	9.37:g.126219702G>A	ENSP00000362727:p.Arg371*					DENND1A_ENST00000373618.1_Nonsense_Mutation_p.R339*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.R371*|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.R339*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.R341*|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.R113*	p.R371*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			15	1312	-			371			dDENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Nonsense_Mutation	SNP	ENST00000373624.2	37	c.1111C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	41	8.983402	0.99025	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	.	.	.	5.46	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1027	12.6399	0.56705	0.0:0.0:0.6249:0.3751	.	.	.	.	X	371;113;339;371;341;339	.	ENSP00000362720:R339X	R	-	1	2	DENND1A	125259523	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	3.399000	0.52586	1.300000	0.44818	0.655000	0.94253	CGA		0.428	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		10	477	0	0	0	1	0	10	477				
ZSCAN21	7589	broad.mit.edu	37	7	99654990	99654990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99654990G>A	ENST00000292450.4	+	2	525	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACTCTCCTCGAAGATCTGGA	0.577																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(361-363)Gaa>Aaa		zinc finger and SCAN domain containing 21							32.0	31.0	31.0					7																	99654990		2203	4299	6502	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654990G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.361G>A	7.37:g.99654990G>A	ENSP00000292450:p.Glu121Lys					ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000477297.1_3'UTR	p.E121K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	525	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		121			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.361G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419351	0.83559	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.77	4.77	0.60923	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.34314	N	0.004062	T	0.45935	0.1367	H	0.95745	3.715	0.39713	D	0.971369	P;D	0.89917	0.883;1.0	P;D	0.85130	0.574;0.997	T	0.63363	-0.6654	10	0.87932	D	0	.	15.6623	0.77197	0.0:0.0:1.0:0.0	.	121;121	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	K	121;121;121;121;96	ENSP00000441212:E121K;ENSP00000292450:E121K;ENSP00000390960:E121K;ENSP00000404207:E121K	ENSP00000292450:E121K	E	+	1	0	ZSCAN21	99492926	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	3.377000	0.52425	2.634000	0.89283	0.655000	0.94253	GAA		0.577	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		60	196	0	0	0	1	0	60	196				
FAP	2191	broad.mit.edu	37	2	163082066	163082066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163082066G>A	ENST00000188790.4	-	4	419	c.212C>T	c.(211-213)tCt>tTt	p.S71F	FAP_ENST00000443424.1_Missense_Mutation_p.S71F	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTTATCTGCAGATTGATGAAG	0.299																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(211-213)tCt>tTt		fibroblast activation protein, alpha							122.0	127.0	126.0					2																	163082066		2199	4298	6497	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163082066G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.212C>T	2.37:g.163082066G>A	ENSP00000188790:p.Ser71Phe					FAP_ENST00000443424.1_Missense_Mutation_p.S71F	p.S71F	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			4	419	-			71						Missense_Mutation	SNP	ENST00000188790.4	37	c.212C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074541	0.55646	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T	0.96104	-3.91;1.28	5.68	5.68	0.88126	.	0.496726	0.21739	N	0.069855	D	0.95529	0.8547	M	0.63428	1.95	0.33629	D	0.605844	P;P;P	0.52170	0.732;0.951;0.92	B;P;B	0.49708	0.321;0.62;0.402	D	0.98556	1.0639	10	0.72032	D	0.01	-1.1315	14.4727	0.67526	0.0:0.0:0.8538:0.1462	.	71;71;71	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	F	71;71;50	ENSP00000188790:S71F;ENSP00000411391:S71F	ENSP00000188790:S71F	S	-	2	0	FAP	162790312	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.750000	0.55157	2.675000	0.91044	0.655000	0.94253	TCT		0.299	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			53	174	0	0	0	1	0	53	174				
METTL3	56339	broad.mit.edu	37	14	21971467	21971467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21971467G>A	ENST00000298717.4	-	3	723	c.572C>T	c.(571-573)gCc>gTc	p.A191V	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	191					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TAACGAACTGGCAAAGGCAGC	0.547																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(571-573)gCc>gTc		methyltransferase like 3							111.0	90.0	97.0					14																	21971467		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971467G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.572C>T	14.37:g.21971467G>A	ENSP00000298717:p.Ala191Val					METTL3_ENST00000538267.1_Intron	p.A191V	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	723	-	all_cancers(95;0.000628)		191					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.572C>T	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688699	0.29962	.	.	ENSG00000165819	ENST00000298717	T	0.31247	1.5	5.36	4.48	0.54585	.	0.495398	0.23868	N	0.043762	T	0.14700	0.0355	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.21546	0.006;0.035;0.002	T	0.08827	-1.0703	10	0.12103	T	0.63	.	9.3888	0.38361	0.163:0.0:0.837:0.0	.	191;191;191	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	V	191	ENSP00000298717:A191V	ENSP00000298717:A191V	A	-	2	0	METTL3	21041307	1.000000	0.71417	0.980000	0.43619	0.667000	0.39255	7.944000	0.87722	1.511000	0.48818	-0.251000	0.11542	GCC		0.547	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		62	277	0	0	0	1	0	62	277				
TANC2	26115	broad.mit.edu	37	17	61417467	61417467	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61417467T>G	ENST00000424789.2	+	10	1363	c.1359T>G	c.(1357-1359)gtT>gtG	p.V453V	TANC2_ENST00000389520.4_Silent_p.V453V|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	453					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCAGGTGGTTGCCTATCACT	0.423																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1357-1359)gtT>gtG		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							87.0	81.0	83.0					17																	61417467		1986	4178	6164	SO:0001819	synonymous_variant	26115						binding	g.chr17:61417467T>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1359T>G	17.37:g.61417467T>G						TANC2_ENST00000389520.4_Silent_p.V453V	p.V453V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			10	1363	+			453					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.1359T>G	CCDS45754.1																																																																																				0.423	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			14	157	0	0	0	1	0	14	157				
PTK7	5754	broad.mit.edu	37	6	43113120	43113120	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43113120C>T	ENST00000230419.4	+	16	2811	c.2590C>T	c.(2590-2592)Ctg>Ttg	p.L864L	PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000352931.2_Silent_p.L808L|PTK7_ENST00000481273.1_Silent_p.L872L|PTK7_ENST00000345201.2_Silent_p.L824L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	864	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCTCCTGGGGCTGTGCCGGGA	0.622																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2590-2592)Ctg>Ttg		protein tyrosine kinase 7							62.0	56.0	58.0					6																	43113120		2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43113120C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2590C>T	6.37:g.43113120C>T						PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000345201.2_Silent_p.L824L|PTK7_ENST00000352931.2_Silent_p.L808L|PTK7_ENST00000481273.1_Silent_p.L872L	p.L864L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		16	2811	+			864			Interaction with CTNNB1.|Protein kinase; inactive.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2590C>T	CCDS4884.1																																																																																				0.622	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			77	309	0	0	0	1	0	77	309				
NUDCD1	84955	broad.mit.edu	37	8	110283254	110283254	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110283254T>C	ENST00000239690.4	-	8	1653	c.1279A>G	c.(1279-1281)Aca>Gca	p.T427A	NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTTTTTAATGTATTGCCATCA	0.299																																						ENST00000239690.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(1279-1281)Aca>Gca		NudC domain containing 1							106.0	109.0	108.0					8																	110283254		2203	4295	6498	SO:0001583	missense	84955							g.chr8:110283254T>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1279A>G	8.37:g.110283254T>C	ENSP00000239690:p.Thr427Ala					NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	p.T427A	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		8	1653	-	all_neural(195;0.219)		427						Missense_Mutation	SNP	ENST00000239690.4	37	c.1279A>G	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294889	0.05568	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18810	2.19;2.19	6.0	3.59	0.41128	.	0.210241	0.49305	D	0.000152	T	0.12774	0.0310	L	0.39397	1.21	0.09310	N	0.999999	B;B;B	0.27498	0.18;0.001;0.043	B;B;B	0.22753	0.041;0.002;0.018	T	0.28073	-1.0055	10	0.17369	T	0.5	-0.6864	3.6097	0.08055	0.1331:0.0704:0.1391:0.6574	.	340;427;398	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	A	427;398	ENSP00000239690:T427A;ENSP00000410707:T398A	ENSP00000239690:T427A	T	-	1	0	NUDCD1	110352430	0.997000	0.39634	0.107000	0.21349	0.002000	0.02628	2.764000	0.47613	0.494000	0.27859	-0.256000	0.11100	ACA		0.299	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		81	280	0	0	0	1	0	81	280				
WBP2NL	164684	broad.mit.edu	37	22	42422788	42422788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42422788C>A	ENST00000328823.9	+	6	564	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P104Q	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	178	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TATGGAGCCCCACCTGCAGGA	0.468																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(532-534)cCa>cAa		WBP2 N-terminal like							78.0	91.0	87.0					22																	42422788		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42422788C>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.533C>A	22.37:g.42422788C>A	ENSP00000332983:p.Pro178Gln					WBP2NL_ENST00000543212.1_Missense_Mutation_p.P104Q	p.P178Q	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	564	+			178			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.533C>A	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304715	0.40795	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	D;D	0.84370	-1.84;-1.84	4.19	1.97	0.26223	WW-domain-binding protein (1);	.	.	.	.	T	0.81688	0.4875	L	0.59912	1.85	0.26110	N	0.980693	B	0.31910	0.346	B	0.34652	0.187	T	0.70117	-0.4960	9	0.39692	T	0.17	.	9.2072	0.37296	0.4419:0.5581:0.0:0.0	.	178	Q6ICG8	WBP2L_HUMAN	Q	178;104	ENSP00000332983:P178Q;ENSP00000442447:P104Q	ENSP00000332983:P178Q	P	+	2	0	WBP2NL	40752734	0.000000	0.05858	0.015000	0.15790	0.004000	0.04260	-0.055000	0.11807	0.448000	0.26722	-0.291000	0.09656	CCA		0.468	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		16	892	1	0	1.5739e-10	1	1.67034e-10	16	892				
SOX8	30812	broad.mit.edu	37	16	1034993	1034993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034993G>T	ENST00000293894.3	+	3	1063	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	316					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCCGTGTGGGCCCACAAGA	0.756																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(946-948)tgG>tgT		SRY (sex determining region Y)-box 8							6.0	8.0	7.0					16																	1034993		2047	4058	6105	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034993G>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.948G>T	16.37:g.1034993G>T	ENSP00000293894:p.Trp316Cys						p.W316C	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			3	1063	+		Hepatocellular(780;0.00308)	316					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.948G>T	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057114	0.36277	.	.	ENSG00000005513	ENST00000293894	T	0.75938	-0.98	4.31	3.36	0.38483	.	0.116020	0.64402	D	0.000006	D	0.87059	0.6083	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87194	0.2236	10	0.62326	D	0.03	.	8.6232	0.33872	0.0871:0.1533:0.7596:0.0	.	316	P57073	SOX8_HUMAN	C	316	ENSP00000293894:W316C	ENSP00000293894:W316C	W	+	3	0	SOX8	974994	1.000000	0.71417	0.997000	0.53966	0.612000	0.37316	4.104000	0.57790	1.045000	0.40225	0.650000	0.86243	TGG		0.756	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			18	61	1	0	1.99824e-07	1	2.07512e-07	18	61				
TOX2	84969	broad.mit.edu	37	20	42695431	42695431	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42695431A>G	ENST00000358131.5	+	7	1572	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	TOX2_ENST00000341197.4_Missense_Mutation_p.N473S|TOX2_ENST00000423191.2_Missense_Mutation_p.N431S|TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	455	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCCATCCAACCCCACCAGC	0.637																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1363-1365)aAc>aGc		TOX high mobility group box family member 2							127.0	119.0	122.0					20																	42695431		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42695431A>G	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1364A>G	20.37:g.42695431A>G	ENSP00000350849:p.Asn455Ser					TOX2_ENST00000435864.2_Missense_Mutation_p.N351S|TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000423191.1_Missense_Mutation_p.N431S|TOX2_ENST00000341197.3_Missense_Mutation_p.N473S	p.N455S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1572	+		Myeloproliferative disorder(115;0.00452)	455			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1364A>G	CCDS42875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.373|8.373	0.835797|0.835797	0.16820|0.16820	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864|ENST00000372992;ENST00000413823	T;T;T;T;T|.	0.17370|.	2.6;2.6;2.6;2.28;2.32|.	5.78|5.78	2.26|2.26	0.28386|0.28386	.|.	0.655368|.	0.14705|.	N|.	0.303308|.	T|T	0.54046|0.54046	0.1834|0.1834	L|L	0.58810|0.58810	1.83|1.83	0.36582|0.36582	D|D	0.873572|0.873572	B;P;P;P|.	0.47106|.	0.011;0.89;0.824;0.622|.	B;B;B;B|.	0.43413|.	0.005;0.419;0.3;0.152|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|6	0.42905|0.87932	T|D	0.14|0	.|.	5.3812|5.3812	0.16192|0.16192	0.7002:0.148:0.1518:0.0|0.7002:0.148:0.1518:0.0	.|.	351;473;455;431|.	B4DQV8;G3XAC7;Q96NM4;E1P5X0|.	.;.;TOX2_HUMAN;.|.	S|A	473;431;431;455;351|80	ENSP00000344724:N473S;ENSP00000390278:N431S;ENSP00000362090:N431S;ENSP00000350849:N455S;ENSP00000396777:N351S|.	ENSP00000344724:N473S|ENSP00000362083:T80A	N|T	+|+	2|1	0|0	TOX2|TOX2	42128845|42128845	1.000000|1.000000	0.71417|0.71417	0.493000|0.493000	0.27502|0.27502	0.197000|0.197000	0.23852|0.23852	2.105000|2.105000	0.41825|0.41825	0.102000|0.102000	0.17638|0.17638	0.533000|0.533000	0.62120|0.62120	AAC|ACC		0.637	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			132	619	0	0	0	1	0	132	619				
OR2M5	127059	broad.mit.edu	37	1	248308805	248308805	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308805C>A	ENST00000366476.1	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGTTATGTCTTATGACCGC	0.453																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(355-357)tCt>tAt		olfactory receptor, family 2, subfamily M, member 5							311.0	305.0	307.0					1																	248308805		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308805C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.356C>A	1.37:g.248308805C>A	ENSP00000355432:p.Ser119Tyr						p.S119Y	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	356	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119						Missense_Mutation	SNP	ENST00000366476.1	37	c.356C>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.805259	0.31961	.	.	ENSG00000162727	ENST00000366476	T	0.52754	0.65	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.267855	0.19552	U	0.111557	T	0.68192	0.2974	H	0.94183	3.505	0.34401	D	0.695327	B	0.29188	0.236	B	0.41988	0.372	T	0.81239	-0.1023	10	0.87932	D	0	.	14.4562	0.67418	0.0:1.0:0.0:0.0	.	119	A3KFT3	OR2M5_HUMAN	Y	119	ENSP00000355432:S119Y	ENSP00000355432:S119Y	S	+	2	0	OR2M5	246375428	0.997000	0.39634	0.177000	0.23020	0.157000	0.22087	4.043000	0.57354	1.528000	0.49103	0.492000	0.49549	TCT		0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		318	1683	1	0	1.32765e-60	1	1.67014e-60	318	1683				
CES5A	221223	broad.mit.edu	37	16	55905609	55905609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55905609G>A	ENST00000290567.9	-	3	466	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CES5A_ENST00000518005.1_Silent_p.F9F|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000521992.1_Silent_p.F144F|CES5A_ENST00000319165.9_Silent_p.F115F|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	115						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGACACTCCGAATTTCGGGT	0.537																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(430-432)ttC>ttT		carboxylesterase 5A							96.0	75.0	82.0					16																	55905609		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55905609G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.345C>T	16.37:g.55905609G>A						CES5A_ENST00000518005.1_Silent_p.F9F|CES5A_ENST00000319165.9_Silent_p.F115F|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000290567.9_Silent_p.F115F	p.F144F	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			4	577	-			115					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.432C>T	CCDS45490.1																																																																																				0.537	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		44	199	0	0	0	1	0	44	199				
PCNXL2	80003	broad.mit.edu	37	1	233134991	233134991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233134991G>A	ENST00000258229.9	-	31	5697	c.5463C>T	c.(5461-5463)tgC>tgT	p.C1821C	PCNXL2_ENST00000344698.2_Silent_p.C473C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1821						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGGCTGATCGCAGGAGGAGT	0.547																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5461-5463)tgC>tgT		pecanex-like 2 (Drosophila)							63.0	65.0	64.0					1																	233134991		1921	4136	6057	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233134991G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5463C>T	1.37:g.233134991G>A						PCNXL2_ENST00000344698.2_Silent_p.C473C	p.C1821C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			31	5697	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1821					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.5463C>T	CCDS44335.1																																																																																				0.547	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		30	93	0	0	0	1	0	30	93				
DRD3	1814	broad.mit.edu	37	3	113858410	113858410	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113858410C>A	ENST00000460779.1	-	6	949	c.660G>T	c.(658-660)cgG>cgT	p.R220R	DRD3_ENST00000383673.2_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000467632.1_Silent_p.R220R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	220					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(658-660)cgG>cgT		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						197.0	192.0	193.0					3																	113858410		2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113858410C>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.660G>T	3.37:g.113858410C>A						DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000460779.1_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R	p.R220R	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			5	1090	-			220					A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.660G>T	CCDS2978.1																																																																																				0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		162	674	1	0	2.77756e-48	1	3.42715e-48	162	674				
CRTC1	23373	broad.mit.edu	37	19	18885767	18885767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18885767G>A	ENST00000321949.8	+	12	1509	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T|CRTC1_ENST00000338797.6_Missense_Mutation_p.A511T|CRTC1_ENST00000601916.1_Intron	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCAGATGGCGGCCAGGCAGGC	0.677																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1531-1533)Gcc>Acc		CREB regulated transcription coactivator 1							89.0	74.0	79.0					19																	18885767		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18885767G>A	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1483G>A	19.37:g.18885767G>A	ENSP00000323332:p.Ala495Thr					CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.A495T	p.A511T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			13	1556	+			495						Missense_Mutation	SNP	ENST00000321949.8	37	c.1531G>A	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162800	0.38217	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.18016	2.24;2.24	3.28	3.28	0.37604	.	0.523530	0.18511	N	0.139060	T	0.13841	0.0335	L	0.36672	1.1	0.41486	D	0.988191	P;B	0.49090	0.919;0.434	B;B	0.40825	0.341;0.085	T	0.13495	-1.0507	10	0.22109	T	0.4	-19.0374	13.6832	0.62499	0.0:0.0:1.0:0.0	.	511;495	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	T	511;495	ENSP00000345001:A511T;ENSP00000323332:A495T	ENSP00000323332:A495T	A	+	1	0	CRTC1	18746767	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	5.232000	0.65332	1.679000	0.50963	0.313000	0.20887	GCC		0.677	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		76	285	0	0	0	1	0	76	285				
PCDHGA6	56109	broad.mit.edu	37	5	140755255	140755255	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140755255C>T	ENST00000517434.1	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCAGCGACAGCGGGG	0.597																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1603-1605)agC>agT									100.0	120.0	113.0					5																	140755255		2192	4299	6491	SO:0001819	synonymous_variant	0							g.chr5:140755255C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1605C>T	5.37:g.140755255C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S535S	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1605	+								A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1605C>T	CCDS54926.1																																																																																				0.597	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		222	908	0	0	0	1	0	222	908				
PRSS21	10942	broad.mit.edu	37	16	2867430	2867430	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2867430G>A	ENST00000005995.3	+	2	106		c.e2-1		PRSS21_ENST00000450020.3_Splice_Site|PRSS21_ENST00000455114.1_Splice_Site			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)						spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GTCTCCCGCAGAGTCGCAGGA	0.741																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.e2-1		protease, serine, 21 (testisin)							9.0	9.0	9.0					16																	2867430		1961	3915	5876	SO:0001630	splice_region_variant	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2867430G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.65-1G>A	16.37:g.2867430G>A						PRSS21_ENST00000005995.3_Splice_Site|PRSS21_ENST00000450020.3_Splice_Site		NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			2	170	+								Q9NS34|Q9P2V6	Splice_Site	SNP	ENST00000005995.3	37		CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	10.93	1.490727	0.26686	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	.	.	.	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8718	0.46887	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS21	2807431	0.006000	0.16342	0.024000	0.17045	0.013000	0.08279	0.630000	0.24553	1.800000	0.52685	0.401000	0.26515	.		0.741	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799	Intron	15	96	0	0	0	1	0	15	96				
KIFAP3	22920	broad.mit.edu	37	1	169890879	169890879	+	Missense_Mutation	SNP	G	G	A	rs184581509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169890879G>A	ENST00000361580.2	-	20	2544	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R733C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	773					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGCAGGGCGTCCAAGAATG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18782	0.0		0.001	False		,,,				2504	0.0					ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(2197-2199)Cgc>Tgc		kinesin-associated protein 3							102.0	87.0	92.0					1																	169890879		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169890879G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2317C>T	1.37:g.169890879G>A	ENSP00000354560:p.Arg773Cys					KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R773C	p.R733C	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			20	3698	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		773					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.2197C>T	CCDS1288.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.609773	0.87258	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.51817	0.73;0.73;0.73;0.71;0.69	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	T	0.03840	-1.0999	9	.	.	.	-6.5391	17.8515	0.88748	0.0:0.0:1.0:0.0	.	773	Q92845	KIFA3_HUMAN	C	773;733;729;475;695	ENSP00000354560:R773C;ENSP00000356739:R733C;ENSP00000356741:R729C;ENSP00000442712:R475C;ENSP00000444622:R695C	.	R	-	1	0	KIFAP3	168157503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.816000	0.75247	2.736000	0.93811	0.655000	0.94253	CGC		0.413	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		29	168	0	0	0	1	0	29	168				
HTR3A	3359	broad.mit.edu	37	11	113853894	113853894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113853894G>A	ENST00000504030.2	+	5	872	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	143					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCGGCATCAAGGCGAAGTTCA	0.537																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(427-429)Ggc>Agc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						182.0	161.0	168.0					11																	113853894		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853894G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.427G>A	11.37:g.113853894G>A	ENSP00000424189:p.Gly143Ser					HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S	p.G143S			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	872	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	143					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.427G>A		.	.	.	.	.	.	.	.	.	.	G	23.1	4.378457	0.82682	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.39	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99391	1.0925	10	0.72032	D	0.01	-21.8271	14.2487	0.66004	0.0721:0.0:0.9279:0.0	.	128;149;149	B4DSY6;G5E986;Q7KZM7	.;.;.	S	143;149;149;143;128	ENSP00000424189:G143S;ENSP00000347754:G149S;ENSP00000364648:G149S;ENSP00000424776:G143S;ENSP00000299961:G128S	ENSP00000299961:G128S	G	+	1	0	HTR3A	113359104	1.000000	0.71417	0.035000	0.18076	0.571000	0.35966	9.809000	0.99208	1.278000	0.44430	0.555000	0.69702	GGC		0.537	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		138	558	0	0	0	1	0	138	558				
THSD4	79875	broad.mit.edu	37	15	72039244	72039244	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72039244C>T	ENST00000355327.3	+	13	2238	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000261862.6_Silent_p.L702L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	702	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCGCCAGGTTCTGTGCCGCCA	0.617																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2104-2106)Ctg>Ttg		thrombospondin, type I, domain containing 4							48.0	57.0	54.0					15																	72039244		2188	4294	6482	SO:0001819	synonymous_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039244C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2104C>T	15.37:g.72039244C>T						THSD4_ENST00000261862.6_Silent_p.L702L|THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000567838.1_3'UTR	p.L702L			Q6ZMP0	THSD4_HUMAN			13	2238	+			702			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.2104C>T	CCDS10238.2																																																																																				0.617	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		65	232	0	0	0	1	0	65	232				
KYNU	8942	broad.mit.edu	37	2	143742745	143742745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143742745C>A	ENST00000264170.4	+	9	1080	c.822C>A	c.(820-822)tcC>tcA	p.S274S	KYNU_ENST00000375773.2_Silent_p.S274S|KYNU_ENST00000409512.1_Silent_p.S274S	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GCTGGTGTTCCTACAAGGTAC	0.393																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(820-822)tcC>tcA		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						208.0	194.0	199.0					2																	143742745		2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143742745C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.822C>A	2.37:g.143742745C>A						KYNU_ENST00000409512.1_Silent_p.S274S|KYNU_ENST00000375773.2_Silent_p.S274S	p.S274S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	9	1080	+			274						Silent	SNP	ENST00000264170.4	37	c.822C>A	CCDS2183.1																																																																																				0.393	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		33	401	1	0	9.65021e-13	1	1.03847e-12	33	401				
OR4D2	124538	broad.mit.edu	37	17	56247439	56247439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247439G>T	ENST00000545221.1	+	1	423	c.423G>T	c.(421-423)tgG>tgT	p.W141C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCAGCTCTGGGTGGGGCTGG	0.592																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(421-423)tgG>tgT		olfactory receptor, family 4, subfamily D, member 2							91.0	91.0	91.0					17																	56247439		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247439G>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.423G>T	17.37:g.56247439G>T	ENSP00000441354:p.Trp141Cys						p.W141C	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	423	+			141					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.423G>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.194430	0.00299	.	.	ENSG00000255713	ENST00000545221	T	0.00021	9.03	5.71	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000012	T	0.00012	0.0000	N	0.00000	-4.2	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.54649	-0.8262	10	0.02654	T	1	-6.0013	4.3334	0.11075	0.0:0.1575:0.1815:0.661	.	141	P58180	OR4D2_HUMAN	C	141	ENSP00000441354:W141C	ENSP00000441354:W141C	W	+	3	0	OR4D2	53602438	0.000000	0.05858	1.000000	0.80357	0.659000	0.38960	-0.822000	0.04448	1.102000	0.41551	-0.311000	0.09066	TGG		0.592	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			111	488	1	0	1.81242e-41	1	2.20198e-41	111	488				
PRPSAP1	5635	broad.mit.edu	37	17	74308979	74308979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74308979C>T	ENST00000446526.3	-	9	1416	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	295					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCAATCAGGCGAGGGGCCTC	0.498																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(970-972)cGc>cAc		phosphoribosyl pyrophosphate synthetase-associated protein 1							73.0	77.0	76.0					17																	74308979		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74308979C>T	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.971G>A	17.37:g.74308979C>T	ENSP00000414624:p.Arg324His					PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H|PRPSAP1_ENST00000588364.1_5'UTR	p.R324H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			9	1416	-			295					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.971G>A	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908919	0.92107	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.73681	-0.77;-0.77;-0.77	5.83	3.8	0.43715	.	0.048040	0.85682	D	0.000000	D	0.82706	0.5095	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.63113	0.911;0.84	T	0.83303	-0.0027	10	0.87932	D	0	.	10.6537	0.45663	0.1332:0.7988:0.0:0.068	.	295;324	Q14558;Q14558-2	KPRA_HUMAN;.	H	324;221;221	ENSP00000414624:R324H;ENSP00000314973:R221H;ENSP00000392838:R221H	ENSP00000314973:R221H	R	-	2	0	PRPSAP1	71820574	1.000000	0.71417	0.977000	0.42913	0.878000	0.50629	4.819000	0.62664	0.771000	0.33359	0.655000	0.94253	CGC		0.498	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		72	373	0	0	0	1	0	72	373				
OR52H1	390067	broad.mit.edu	37	11	5566168	5566168	+	Missense_Mutation	SNP	C	C	T	rs202105878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5566168C>T	ENST00000322653.4	-	1	611	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACAGGCGAGCTGGGCA	0.483																																						ENST00000322653.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(586-588)Gcc>Acc		olfactory receptor, family 52, subfamily H, member 1							131.0	102.0	112.0					11																	5566168		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566168C>T	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.586G>A	11.37:g.5566168C>T	ENSP00000326259:p.Ala196Thr					HBG2_ENST00000380259.2_Intron	p.A196T	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	611	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	196					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.586G>A	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479877	0.44044	.	.	ENSG00000181616	ENST00000322653	T	0.00193	8.58	5.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.327597	0.25978	N	0.027090	T	0.00580	0.0019	M	0.87180	2.865	0.09310	N	1	D	0.61697	0.99	P	0.60117	0.869	T	0.41016	-0.9532	10	0.87932	D	0	.	15.5505	0.76148	0.1474:0.8526:0.0:0.0	.	196	Q8NGJ2	O52H1_HUMAN	T	196	ENSP00000326259:A196T	ENSP00000326259:A196T	A	-	1	0	OR52H1	5522744	0.000000	0.05858	0.953000	0.39169	0.510000	0.34073	-0.025000	0.12413	2.511000	0.84671	0.650000	0.86243	GCC		0.483	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		51	247	0	0	0	1	0	51	247				
SNHG14	104472715	broad.mit.edu	37	15	25523494	25523494	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25523494C>T	ENST00000554726.1	+	0	207				SNHG14_ENST00000452731.1_RNA|SNORD109B_ENST00000458961.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TTGTTTGGATCGATGATGAGA	0.438																																						ENST00000554726.1																			0																				66.0	64.0	65.0					15																	25523494		876	1991	2867			0							g.chr15:25523494C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25523494C>T						SNHG14_ENST00000452731.1_RNA|SNORD109B_ENST00000458961.1_RNA								0	207	+									RNA	SNP	ENST00000554726.1	37																																																																																						0.438	SNHG14-023	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000414071.1			27	153	0	0	0	1	0	27	153				
ZCCHC8	55596	broad.mit.edu	37	12	122958687	122958687	+	Missense_Mutation	SNP	G	G	A	rs111823200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958687G>A	ENST00000336229.4	-	14	1611	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	494	Pro-rich.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGGAGTCAGCGGCGGGGTGCC	0.577													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17002	0.0		0.0	False		,,,				2504	0.0					ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(766-768)cCg>cTg		zinc finger, CCHC domain containing 8		G	LEU/PRO	31,4269		1,29,2120	51.0	59.0	56.0		1481	5.1	0.1	12	dbSNP_132	56	0,8542		0,0,4271	yes	missense	ZCCHC8	NM_017612.3	98	1,29,6391	AA,AG,GG		0.0,0.7209,0.2414	probably-damaging	494/708	122958687	31,12811	2150	4271	6421	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958687G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1481C>T	12.37:g.122958687G>A	ENSP00000337313:p.Pro494Leu					ZCCHC8_ENST00000336229.4_Missense_Mutation_p.P494L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L	p.P256L			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	12	3122	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		494					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.767C>T		4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	24.5	4.536879	0.85812	0.007209	0.0	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.57436	0.73;0.73;0.7;0.4	5.96	5.07	0.68467	.	0.047509	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74258	2.255	0.80722	D	1	B	0.32128	0.357	B	0.20577	0.03	T	0.54754	-0.8246	10	0.66056	D	0.02	-8.9204	15.2854	0.73826	0.0671:0.0:0.9328:0.0	.	494	Q6NZY4	ZCHC8_HUMAN	L	256;256;494;105;105	ENSP00000441423:P256L;ENSP00000438993:P256L;ENSP00000337313:P494L;ENSP00000440028:P105L	ENSP00000337313:P494L	P	-	2	0	ZCCHC8	121524640	1.000000	0.71417	0.090000	0.20809	0.751000	0.42716	6.898000	0.75676	1.531000	0.49152	0.650000	0.86243	CCG		0.577	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		74	300	0	0	0	1	0	74	300				
ASB11	140456	broad.mit.edu	37	X	15301646	15301646	+	Missense_Mutation	SNP	C	C	T	rs201426380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15301646C>T	ENST00000480796.1	-	7	1003	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	ASB11_ENST00000380470.3_Missense_Mutation_p.R301Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q|ASB11_ENST00000537676.1_Missense_Mutation_p.R297Q			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	318	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TAGGAGGAATCGTTCGAGTGG	0.498													C|||	1	0.000264901	0.0	0.0	3775	,	,		13336	0.0		0.0	False		,,,				2504	0.001					ENST00000537676.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(889-891)cGa>cAa		ankyrin repeat and SOCS box containing 11		C	GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	231.0	187.0	202.0		890,902,953	1.1	1.0	X		202	1,6727		0,1,2427,1872	no	missense,missense,missense	ASB11	NM_001012428.2,NM_001201583.1,NM_080873.2	43,43,43	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign,benign	297/303,301/307,318/324	15301646	1,10562	2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction			g.chrX:15301646C>T	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.953G>A	X.37:g.15301646C>T	ENSP00000417914:p.Arg318Gln					ASB11_ENST00000480796.1_Missense_Mutation_p.R318Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q|ASB11_ENST00000380470.3_Missense_Mutation_p.R301Q	p.R297Q			Q8WXH4	ASB11_HUMAN			7	962	-	Hepatocellular(33;0.183)		318			SOCS box.		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.890G>A	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849570	0.17034	0.0	1.49E-4	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.72	1.12	0.20585	SOCS protein, C-terminal (3);	0.373056	0.25344	N	0.031341	T	0.24160	0.0585	N	0.21583	0.68	0.20873	N	0.999834	B;B;B	0.16802	0.011;0.005;0.019	B;B;B	0.15484	0.013;0.006;0.01	T	0.15150	-1.0447	10	0.27082	T	0.32	-7.9194	7.6607	0.28402	0.0:0.2848:0.0:0.7152	.	301;318;297	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	Q	297;301;297;318	ENSP00000445465:R297Q;ENSP00000369837:R301Q;ENSP00000343408:R297Q;ENSP00000417914:R318Q	ENSP00000343408:R297Q	R	-	2	0	ASB11	15211567	1.000000	0.71417	0.979000	0.43373	0.237000	0.25408	2.239000	0.43079	0.147000	0.19030	-0.296000	0.09543	CGA		0.498	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			193	666	0	0	0	1	0	193	666				
CELSR2	1952	broad.mit.edu	37	1	109811858	109811858	+	Missense_Mutation	SNP	G	G	A	rs150344250		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811858G>A	ENST00000271332.3	+	20	6819	c.6758G>A	c.(6757-6759)cGc>cAc	p.R2253H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2253					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCATCTACCGCACCCTGGCC	0.672																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(6757-6759)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2		G	HIS/ARG	0,4406		0,0,2203	29.0	31.0	30.0		6758	3.7	1.0	1	dbSNP_134	30	11,8587		0,11,4288	yes	missense	CELSR2	NM_001408.2	29	0,11,6491	AA,AG,GG		0.1279,0.0,0.0846	benign	2253/2924	109811858	11,12993	2203	4299	6502	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109811858G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6758G>A	1.37:g.109811858G>A	ENSP00000271332:p.Arg2253His						p.R2253H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	20	6819	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2253					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6758G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358225	0.41801	0.0	0.001279	ENSG00000143126	ENST00000271332	T	0.11821	2.74	4.63	3.7	0.42460	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.03390	0.0098	N	0.25201	0.72	0.29053	N	0.884409	B	0.26400	0.148	B	0.22753	0.041	T	0.38045	-0.9679	9	0.33940	T	0.23	.	11.5909	0.50945	0.0893:0.0:0.9107:0.0	.	2253	Q9HCU4	CELR2_HUMAN	H	2253	ENSP00000271332:R2253H	ENSP00000271332:R2253H	R	+	2	0	CELSR2	109613381	0.998000	0.40836	1.000000	0.80357	0.857000	0.48899	3.856000	0.55964	1.156000	0.42514	0.462000	0.41574	CGC		0.672	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		31	261	0	0	0	1	0	31	261				
TBC1D25	4943	broad.mit.edu	37	X	48418517	48418517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48418517C>T	ENST00000376771.4	+	6	1562	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	TBC1D25_ENST00000537536.1_Silent_p.Y153Y|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	407	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTTCTGTTACCGCTGGCTGC	0.557																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1219-1221)taC>taT		TBC1 domain family, member 25							33.0	23.0	26.0					X																	48418517		2203	4299	6502	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48418517C>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1221C>T	X.37:g.48418517C>T						TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.Y153Y	p.Y407Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	1562	+			407			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.1221C>T	CCDS35242.1																																																																																				0.557	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		19	72	0	0	0	1	0	19	72				
SYNE1	23345	broad.mit.edu	37	6	152652461	152652461	+	Silent	SNP	G	G	A	rs369434204		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652461G>A	ENST00000367255.5	-	78	13960	c.13359C>T	c.(13357-13359)tcC>tcT	p.S4453S	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.S4382S|SYNE1_ENST00000448038.1_Silent_p.S4382S|SYNE1_ENST00000265368.4_Silent_p.S4453S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4453					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S4453S(2)|p.S4382S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTTTTCTCGGACAAGGCTT	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - coding silent(3)	p.S4453S(2)|p.S4382S(1)	endometrium(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13357-13359)tcC>tcT		spectrin repeat containing, nuclear envelope 1		G	,	0,4406		0,0,2203	102.0	93.0	96.0		13146,13359	-5.7	0.9	6		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	4382/8750,4453/8798	152652461	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652461G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13359C>T	6.37:g.152652461G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.S4382S|SYNE1_ENST00000265368.4_Silent_p.S4453S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.S4382S	p.S4453S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13960	-		Ovarian(120;0.0955)	4453					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.13359C>T	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		43	266	0	0	0	1	0	43	266				
OR4C11	219429	broad.mit.edu	37	11	55371242	55371242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371242G>A	ENST00000302231.4	-	1	632	c.608C>T	c.(607-609)gCa>gTa	p.A203V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGCAAATTGCCCCACTGTT	0.398																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(607-609)gCa>gTa		olfactory receptor, family 4, subfamily C, member 11							87.0	72.0	78.0					11																	55371242		2179	4012	6191	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371242G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.608C>T	11.37:g.55371242G>A	ENSP00000306651:p.Ala203Val						p.A203V	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	632	-			203					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.608C>T	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603905	0.03717	.	.	ENSG00000172188	ENST00000302231	T	0.34859	1.34	4.34	0.186	0.15105	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000184	T	0.09555	0.0235	N	0.03194	-0.395	0.09310	N	1	B	0.17852	0.024	B	0.19148	0.024	T	0.22417	-1.0217	10	0.02654	T	1	.	0.6945	0.00897	0.2468:0.1829:0.3829:0.1874	.	203	Q6IEV9	OR4CB_HUMAN	V	203	ENSP00000306651:A203V	ENSP00000306651:A203V	A	-	2	0	OR4C11	55127818	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-1.028000	0.03589	0.195000	0.20347	-0.349000	0.07799	GCA		0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		41	426	0	0	0	1	0	41	426				
DENND4B	9909	broad.mit.edu	37	1	153903473	153903473	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903473G>A	ENST00000361217.4	-	25	4482	c.4064C>T	c.(4063-4065)aCc>aTc	p.T1355I	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1355					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGTCAGGGGTCAGTACATC	0.597																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(4063-4065)aCc>aTc		DENN/MADD domain containing 4B							35.0	38.0	37.0					1																	153903473		1956	4136	6092	SO:0001583	missense	9909							g.chr1:153903473G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4064C>T	1.37:g.153903473G>A	ENSP00000354597:p.Thr1355Ile					DENND4B_ENST00000474386.1_5'UTR	p.T1355I	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		25	4482	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1355					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.4064C>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882253	0.33255	.	.	ENSG00000198837	ENST00000361217	T	0.07216	3.21	5.14	4.22	0.49857	.	0.292538	0.36972	N	0.002305	T	0.02267	0.0070	N	0.22421	0.69	0.41915	D	0.990484	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.42905	T	0.14	-17.3562	9.4167	0.38525	0.1661:0.0:0.8339:0.0	.	1355	O75064	DEN4B_HUMAN	I	1355	ENSP00000354597:T1355I	ENSP00000354597:T1355I	T	-	2	0	DENND4B	152170097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.052000	0.41316	1.364000	0.46038	0.563000	0.77884	ACC		0.597	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		33	76	0	0	0	1	0	33	76				
PTP4A1	7803	broad.mit.edu	37	6	64289169	64289169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64289169G>T	ENST00000370651.3	+	5	1490	c.337G>T	c.(337-339)Gta>Tta	p.V113L	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	113	Interaction with ATF5. {ECO:0000250}.|Tyrosine-protein phosphatase.				cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CAGAGCTCCAGTACTTGTTGC	0.328																																					Pancreas(91;1019 1502 28028 38110 51645)	ENST00000370651.3																			0				large_intestine(3)|lung(4)|skin(1)	8						c.(337-339)Gta>Tta		protein tyrosine phosphatase type IVA, member 1							105.0	100.0	102.0					6																	64289169		2203	4300	6503	SO:0001583	missense	7803				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity	g.chr6:64289169G>T	U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.337G>T	6.37:g.64289169G>T	ENSP00000359685:p.Val113Leu					PTP4A1_ENST00000370650.2_Intron	p.V113L	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)		5	1490	+	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		113			Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.		B2R6C8|O00648|Q49A54	Missense_Mutation	SNP	ENST00000370651.3	37	c.337G>T	CCDS4965.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520784	0.85495	.	.	ENSG00000112245	ENST00000370651	D	0.85088	-1.94	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.80028	2.48	0.80722	D	1	B	0.19445	0.036	B	0.30646	0.118	T	0.81807	-0.0763	10	0.62326	D	0.03	-15.7504	20.394	0.98981	0.0:0.0:1.0:0.0	.	113	Q93096	TP4A1_HUMAN	L	113	ENSP00000359685:V113L	ENSP00000359685:V113L	V	+	1	0	PTP4A1	64347128	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.966000	0.87956	2.830000	0.97506	0.585000	0.79938	GTA		0.328	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2			67	316	1	0	5.32961e-40	1	6.45334e-40	67	316				
BMP1	649	broad.mit.edu	37	8	22069241	22069241	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22069241A>G	ENST00000306385.5	+	20	3631	c.2961A>G	c.(2959-2961)tgA>tgG	p.*987W	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	0					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGGAAGTGACCACTGCCTG	0.602																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2959-2961)tgA>tgG		bone morphogenetic protein 1							97.0	80.0	86.0					8																	22069241		2203	4300	6503	SO:0001578	stop_lost	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22069241A>G		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2961A>G	8.37:g.22069241A>G	ENSP00000305714:p.*987Trpext*45					BMP1_ENST00000354870.5_3'UTR	p.*987W	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	20	3631	+			0					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Nonstop_Mutation	SNP	ENST00000306385.5	37	c.2961A>G	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471565	0.63737	.	.	ENSG00000168487	ENST00000306385	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0626	0.59015	1.0:0.0:0.0:0.0	.	.	.	.	W	987	.	.	X	+	3	0	BMP1	22125186	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	8.924000	0.92827	1.924000	0.55735	0.533000	0.62120	TGA		0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		70	340	0	0	0	1	0	70	340				
SALL3	27164	broad.mit.edu	37	18	76757124	76757124	+	Silent	SNP	C	C	T	rs375447289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:76757124C>T	ENST00000537592.2	+	3	3705	c.3705C>T	c.(3703-3705)aaC>aaT	p.N1235N	SALL3_ENST00000536229.3_Silent_p.N1030N|SALL3_ENST00000575389.2_Silent_p.N1163N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1235					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCATCCAGAACGGCGGCATCC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18619	0.0		0.0	False		,,,				2504	0.0					ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3088-3090)aaC>aaT		spalt-like transcription factor 3		C		1,4405	2.1+/-5.4	0,1,2202	107.0	99.0	102.0		3705	-6.6	0.3	18		102	0,8600		0,0,4300	no	coding-synonymous	SALL3	NM_171999.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1235/1301	76757124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76757124C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3705C>T	18.37:g.76757124C>T						SALL3_ENST00000537592.2_Silent_p.N1235N|SALL3_ENST00000575389.2_Silent_p.N1163N	p.N1030N			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3799	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1235					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.3090C>T	CCDS12013.1																																																																																				0.617	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		169	670	0	0	0	1	0	169	670				
DCT	1638	broad.mit.edu	37	13	95118886	95118886	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95118886C>A	ENST00000377028.5	-	3	1035	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.D208Y|AL139318.1_ENST00000390768.1_RNA	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	208					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTGAGAAATCTATGGCCCTG	0.413																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(622-624)Gat>Tat		dopachrome tautomerase							62.0	63.0	63.0					13																	95118886		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95118886C>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.622G>T	13.37:g.95118886C>A	ENSP00000366227:p.Asp208Tyr					DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.D208Y	p.D208Y	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	3	1035	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	208					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.622G>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953366	0.92660	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99060	-5.38;-5.38	5.7	5.7	0.88788	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.98965	1.0799	10	0.87932	D	0	-24.8267	19.8418	0.96692	0.0:1.0:0.0:0.0	.	208;208	Q09GT4;P40126	.;TYRP2_HUMAN	Y	208	ENSP00000366227:D208Y;ENSP00000392762:D208Y	ENSP00000366227:D208Y	D	-	1	0	DCT	93916887	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	7.802000	0.85969	2.685000	0.91497	0.561000	0.74099	GAT		0.413	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			35	172	1	0	1.90571e-15	1	2.08261e-15	35	172				
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175331945A>C	ENST00000367674.2	-	14	3416	c.2708T>G	c.(2707-2709)gTg>gGg	p.V903G	TNR_ENST00000263525.2_Splice_Site_p.V903G			Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.V903G(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TAGTCGTCCCACTGGAGAAGA	0.488																																						ENST00000367674.1																			2	Substitution - Missense(2)	p.V903G(2)	lung(2)	NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.e14-1		tenascin R							158.0	148.0	151.0					1																	175331945		2203	4300	6503	SO:0001630	splice_region_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331945A>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2708-1T>G	1.37:g.175331945A>C						TNR_ENST00000263525.2_Splice_Site_p.V903_splice	p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			14	3416	-	Renal(580;0.146)		903			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Splice_Site	SNP	ENST00000367674.2	37	c.2707_splice	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	8.296	0.818804	0.16607	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.50001	0.76;0.76	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000091	T	0.16171	0.0389	N	0.01197	-0.965	0.58432	D	0.999991	P	0.34462	0.454	B	0.34931	0.192	T	0.35724	-0.9777	10	0.05721	T	0.95	.	7.4796	0.27398	0.8761:0.0:0.1239:0.0	.	903	Q92752	TENR_HUMAN	G	903;903;813	ENSP00000356646:V903G;ENSP00000263525:V903G	ENSP00000263525:V903G	V	-	2	0	TNR	173598568	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	3.967000	0.56802	2.205000	0.71048	0.528000	0.53228	GTG		0.488	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Missense_Mutation	11	532	0	0	0	1	0	11	532				
KDM5B	10765	broad.mit.edu	37	1	202742404	202742404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202742404C>T	ENST00000367265.3	-	4	1582	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	140	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCCACCTTCTTCTGCAACT	0.403																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(418-420)Gaa>Aaa		lysine (K)-specific demethylase 5B							115.0	104.0	108.0					1																	202742404		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202742404C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.418G>A	1.37:g.202742404C>T	ENSP00000356234:p.Glu140Lys					KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	p.E140K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			4	1582	-			140			ARID.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.418G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488816	0.84962	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.62941	-0.01;-0.01	5.79	5.79	0.91817	ARID/BRIGHT DNA-binding domain (5);	0.092379	0.85682	D	0.000000	T	0.59445	0.2194	L	0.38531	1.155	0.58432	D	0.999997	P;B	0.45569	0.861;0.104	P;B	0.45712	0.491;0.262	T	0.57347	-0.7827	10	0.36615	T	0.2	-25.1694	16.9763	0.86314	0.0:0.8728:0.1272:0.0	.	140;140	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	140	ENSP00000356234:E140K;ENSP00000356233:E140K	ENSP00000356233:E140K	E	-	1	0	KDM5B	201009027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.118000	0.71583	2.740000	0.93945	0.563000	0.77884	GAA		0.403	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		32	383	0	0	0	1	0	32	383				
RANGAP1	5905	broad.mit.edu	37	22	41650462	41650462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650462T>C	ENST00000455915.2	-	10	2579	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000405486.1_Silent_p.E370E|RANGAP1_ENST00000407260.4_Silent_p.E315E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	370	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cttcttcctcttctccttcct	0.567																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1108-1110)gaA>gaG		Ran GTPase activating protein 1							157.0	128.0	138.0					22																	41650462		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650462T>C	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1110A>G	22.37:g.41650462T>C						RANGAP1_ENST00000405486.1_Silent_p.E370E|RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000407260.4_Silent_p.E315E	p.E370E			P46060	RAGP1_HUMAN			10	2579	-			370			Asp/Glu-rich (highly acidic).		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1110A>G	CCDS14012.1																																																																																				0.567	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		105	454	0	0	0	1	0	105	454				
NHSL2	340527	broad.mit.edu	37	X	71360063	71360063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71360063C>T	ENST00000373677.1	+	2	2829	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S|NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S			Q5HYW2	NHSL2_HUMAN	NHS-like 2	523										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACAAGCCACCATCTGTTCC	0.547																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1567-1569)Cca>Tca		NHS-like 2							86.0	66.0	73.0					X																	71360063		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360063C>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1567C>T	X.37:g.71360063C>T	ENSP00000362781:p.Pro523Ser					NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S|NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S	p.P523S			F5H593	F5H593_HUMAN			2	2829	+	Renal(35;0.156)		889					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.1567C>T		.	.	.	.	.	.	.	.	.	.	C	9.521	1.108197	0.20714	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47528	1.48;0.84;0.84;0.84	5.35	3.52	0.40303	.	0.397307	0.22843	N	0.054947	T	0.41119	0.1145	L	0.59436	1.845	0.39895	D	0.973823	B;B;B	0.24426	0.061;0.103;0.061	B;B;B	0.23419	0.046;0.046;0.029	T	0.26538	-1.0100	10	0.36615	T	0.2	-1.8731	7.8044	0.29193	0.1603:0.7517:0.0:0.088	.	889;658;523	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	S	889;523;658;523	ENSP00000444617:P889S;ENSP00000362781:P523S;ENSP00000424079:P658S;ENSP00000444914:P523S	ENSP00000362781:P523S	P	+	1	0	NHSL2	71276788	1.000000	0.71417	0.931000	0.37212	0.720000	0.41350	1.944000	0.40263	0.677000	0.31305	0.600000	0.82982	CCA		0.547	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		25	195	0	0	0	1	0	25	195				
C1orf74	148304	broad.mit.edu	37	1	209956266	209956266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956266C>A	ENST00000294811.1	-	2	970	c.714G>T	c.(712-714)tgG>tgT	p.W238C		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	238										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGTCCTTCTCCCAGGTGTTTA	0.512																																						ENST00000294811.1																			0				endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15						c.(712-714)tgG>tgT		chromosome 1 open reading frame 74							84.0	92.0	89.0					1																	209956266		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956266C>A	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.714G>T	1.37:g.209956266C>A	ENSP00000294811:p.Trp238Cys						p.W238C	NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	970	-			238						Missense_Mutation	SNP	ENST00000294811.1	37	c.714G>T	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246145	0.80024	.	.	ENSG00000162757	ENST00000294811	T	0.65178	-0.14	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80243	-0.1463	10	0.87932	D	0	-48.2684	19.9376	0.97146	0.0:1.0:0.0:0.0	.	238	Q96LT6	CA074_HUMAN	C	238	ENSP00000294811:W238C	ENSP00000294811:W238C	W	-	3	0	C1orf74	208022889	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.960000	0.76036	2.711000	0.92665	0.655000	0.94253	TGG		0.512	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		84	462	1	0	2.47556e-37	1	2.97223e-37	84	462				
EEA1	8411	broad.mit.edu	37	12	93196191	93196191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93196191T>C	ENST00000322349.8	-	19	2923	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	887					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAGTCTAATATAGCGGCTTTT	0.289																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2659-2661)Ata>Gta		early endosome antigen 1							51.0	55.0	54.0					12																	93196191		2200	4295	6495	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93196191T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2659A>G	12.37:g.93196191T>C	ENSP00000317955:p.Ile887Val						p.I887V	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			19	2923	-			887					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.2659A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	1.136	-0.650910	0.03506	.	.	ENSG00000102189	ENST00000322349	T	0.62788	0.0	5.4	-0.258	0.12975	.	0.442204	0.19156	N	0.121338	T	0.27454	0.0674	N	0.02916	-0.46	0.21020	N	0.999803	B	0.02656	0.0	B	0.04013	0.001	T	0.08994	-1.0695	10	0.29301	T	0.29	.	1.7563	0.02983	0.1541:0.3229:0.1128:0.4102	.	887	Q15075	EEA1_HUMAN	V	887	ENSP00000317955:I887V	ENSP00000317955:I887V	I	-	1	0	EEA1	91720322	0.051000	0.20477	0.993000	0.49108	0.970000	0.65996	-0.276000	0.08514	0.040000	0.15660	0.402000	0.26972	ATA		0.289	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		26	125	0	0	0	1	0	26	125				
CLEC16A	23274	broad.mit.edu	37	16	11114148	11114148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11114148G>A	ENST00000409790.1	+	12	1632	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAAAAGCGCCGCCGCCACCTG	0.617																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1402-1404)Gcc>Acc		C-type lectin domain family 16, member A							21.0	26.0	24.0					16																	11114148		2004	4173	6177	SO:0001583	missense	23274							g.chr16:11114148G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1402G>A	16.37:g.11114148G>A	ENSP00000387122:p.Ala468Thr					CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	p.A468T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			12	1632	+			468						Missense_Mutation	SNP	ENST00000409790.1	37	c.1402G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655504	0.67586	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.47177	0.85	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.993;0.994	T	0.56486	-0.7971	10	0.14656	T	0.56	-18.8815	14.6545	0.68823	0.0:0.0:1.0:0.0	.	468;450	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	T	468;468;450	ENSP00000387122:A468T	ENSP00000386495:A450T	A	+	1	0	CLEC16A	11021649	1.000000	0.71417	0.303000	0.25071	0.018000	0.09664	7.199000	0.77831	2.521000	0.84997	0.555000	0.69702	GCC		0.617	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		29	109	0	0	0	1	0	29	109				
PDE4C	5143	broad.mit.edu	37	19	18332977	18332977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18332977C>A	ENST00000355502.3	-	6	1270	c.399G>T	c.(397-399)aaG>aaT	p.K133N	PDE4C_ENST00000447275.3_Missense_Mutation_p.K27N|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000594617.3_Missense_Mutation_p.K133N|PDE4C_ENST00000262805.12_Missense_Mutation_p.K101N|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000594465.3_Missense_Mutation_p.K133N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	133					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GAGACATGGCCTTGGGCGAGA	0.617																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(397-399)aaG>aaT		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						65.0	57.0	60.0					19																	18332977		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18332977C>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.399G>T	19.37:g.18332977C>A	ENSP00000347689:p.Lys133Asn					PDE4C_ENST00000262805.11_Missense_Mutation_p.K101N|PDE4C_ENST00000447275.2_Missense_Mutation_p.K27N|PDE4C_ENST00000594465.2_Missense_Mutation_p.K133N|PDE4C_ENST00000594617.2_Missense_Mutation_p.K133N	p.K133N			Q08493	PDE4C_HUMAN			6	1270	-			133					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.399G>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326528	0.41197	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.75938	0.92;-0.98;-0.87	4.35	1.02	0.19986	.	3.522130	0.02252	U	0.066744	T	0.78941	0.4363	M	0.68593	2.085	0.80722	D	1	P;P;B	0.49696	0.563;0.927;0.24	B;P;B	0.49999	0.175;0.628;0.192	T	0.66842	-0.5821	10	0.87932	D	0	.	6.1161	0.20127	0.0:0.5024:0.0:0.4976	.	242;133;101	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	N	212;133;121;101;27;242	ENSP00000347689:K133N;ENSP00000262805:K101N;ENSP00000402091:K27N	ENSP00000262805:K101N	K	-	3	2	PDE4C	18193977	0.096000	0.21769	0.926000	0.36857	0.649000	0.38597	0.483000	0.22292	0.314000	0.23086	0.306000	0.20318	AAG		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			44	182	1	0	3.05275e-18	1	3.38534e-18	44	182				
HOXB3	3213	broad.mit.edu	37	17	46628044	46628044	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628044G>A	ENST00000470495.1	-	2	2395	c.948C>T	c.(946-948)ggC>ggT	p.G316G	HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Silent_p.G243G|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G			P14651	HXB3_HUMAN	homeobox B3	316					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTGCGGGGCGCCGCAGCCTT	0.697											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(946-948)ggC>ggT		homeobox B3							37.0	47.0	44.0					17																	46628044		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628044G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.948C>T	17.37:g.46628044G>A			OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G|HOXB3_ENST00000489475.1_Silent_p.G243G|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Silent_p.G184G	p.G316G			P14651	HXB3_HUMAN			2	2395	-			316					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.948C>T	CCDS11528.1																																																																																				0.697	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			111	469	0	0	0	1	0	111	469				
SHROOM3	57619	broad.mit.edu	37	4	77661164	77661164	+	Missense_Mutation	SNP	C	C	T	rs576535579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661164C>T	ENST00000296043.6	+	5	2791	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	613					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCTGGCAAGCGGGTGAAGAC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19655	0.0		0.0	False		,,,				2504	0.0					ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1837-1839)gCg>gTg		shroom family member 3							146.0	149.0	148.0					4																	77661164		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661164C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1838C>T	4.37:g.77661164C>T	ENSP00000296043:p.Ala613Val						p.A613V	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2791	+			613					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1838C>T	CCDS3579.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.733713|-1.733713	0.00687|0.00687	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000296043|ENST00000380735	T|.	0.17854|.	2.25|.	5.64|5.64	-3.6|-3.6	0.04570|0.04570	.|.	1.549080|.	0.03546|.	N|.	0.224670|.	T|T	0.12774|0.12774	0.0310|0.0310	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12013|.	0.005;0.005;0.002|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|T	0.31806|0.31806	-0.9930|-0.9930	10|6	0.06625|0.72032	T|D	0.88|0.01	-4.4057|-4.4057	8.8457|8.8457	0.35168|0.35168	0.0:0.4991:0.1238:0.3771|0.0:0.4991:0.1238:0.3771	.|.	437;613;391|.	B4E244;Q8TF72;B3KY47|.	.;SHRM3_HUMAN;.|.	V|W	613|153	ENSP00000296043:A613V|.	ENSP00000296043:A613V|ENSP00000370111:R153W	A|R	+|+	2|1	0|2	SHROOM3|SHROOM3	77880188|77880188	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.204000|0.204000	0.24138|0.24138	0.001000|0.001000	0.13038|0.13038	-0.485000|-0.485000	0.06754|0.06754	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		131	671	0	0	0	1	0	131	671				
LONP1	9361	broad.mit.edu	37	19	5694911	5694911	+	Splice_Site	SNP	C	C	T	rs138134205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5694911C>T	ENST00000360614.3	-	14	2172	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	LONP1_ENST00000590729.1_Splice_Site_p.R542H|LONP1_ENST00000540670.2_Splice_Site_p.R476H|LONP1_ENST00000593119.1_Splice_Site_p.R608H|LONP1_ENST00000585374.1_Splice_Site_p.R558H	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCAGGTAGCGCTGCAAGGG	0.637																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e14-1		lon peptidase 1, mitochondrial		C	HIS/ARG	0,4406		0,0,2203	34.0	35.0	35.0		2015	2.7	0.6	19	dbSNP_134	35	1,8597	1.2+/-3.3	0,1,4298	yes	missense-near-splice	LONP1	NM_004793.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	672/960	5694911	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5694911C>T	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.2014-1G>A	19.37:g.5694911C>T						LONP1_ENST00000593119.1_Splice_Site_p.R608_splice|LONP1_ENST00000540670.2_Splice_Site_p.R476_splice|LONP1_ENST00000590729.1_Splice_Site_p.R542_splice|LONP1_ENST00000585374.1_Splice_Site_p.R558_splice	p.R672_splice	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			14	2172	-			672						Splice_Site	SNP	ENST00000360614.3	37	c.2013_splice	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187963	0.57909	0.0	1.16E-4	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.26067	2.06;1.76	3.72	2.65	0.31530	.	0.134457	0.42682	D	0.000661	T	0.24661	0.0598	L	0.60904	1.88	0.80722	D	1	P;P;P	0.45634	0.863;0.863;0.863	B;B;B	0.43194	0.411;0.411;0.411	T	0.01956	-1.1240	10	0.49607	T	0.09	-7.9883	6.32	0.21213	0.0:0.7612:0.0:0.2388	.	672;608;672	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	H	672;636;476	ENSP00000353826:R672H;ENSP00000441523:R476H	ENSP00000351177:R636H	R	-	2	0	LONP1	5645911	0.995000	0.38212	0.637000	0.29366	0.762000	0.43233	3.212000	0.51145	0.548000	0.28955	0.462000	0.41574	CGC		0.637	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793	Missense_Mutation	39	221	0	0	0	1	0	39	221				
HIC1	3090	broad.mit.edu	37	17	1960163	1960163	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960163A>C	ENST00000322941.3	+	2	236	c.236A>C	c.(235-237)gAc>gCc	p.D79A	HIC1_ENST00000399849.3_Missense_Mutation_p.D60A|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GTGGTGCATGACAACCTGCTC	0.642																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(178-180)gAc>gCc		hypermethylated in cancer 1							43.0	46.0	45.0					17																	1960163		2157	4264	6421	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960163A>C		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.236A>C	17.37:g.1960163A>C	ENSP00000314080:p.Asp79Ala					HIC1_ENST00000322941.3_Missense_Mutation_p.D79A	p.D60A	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	339	+			79			BTB.		D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.179A>C	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473536	0.63737	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.23348	1.91;1.91	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.47728	0.1461	M	0.67625	2.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.51036	-0.8756	9	0.72032	D	0.01	.	12.8345	0.57765	1.0:0.0:0.0:0.0	.	79	Q14526	HIC1_HUMAN	A	60;79	ENSP00000382742:D60A;ENSP00000314080:D79A	ENSP00000314080:D79A	D	+	2	0	HIC1	1906913	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.895000	0.69814	1.706000	0.51276	0.459000	0.35465	GAC		0.642	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		33	357	0	0	0	1	0	33	357				
SNX14	57231	broad.mit.edu	37	6	86259508	86259508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86259508G>A	ENST00000314673.3	-	8	900	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y|SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	242	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTTAAATAGTGCAATTCATCT	0.333																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(724-726)Cac>Tac		sorting nexin 14							90.0	95.0	94.0					6																	86259508		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86259508G>A	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.724C>T	6.37:g.86259508G>A	ENSP00000313121:p.His242Tyr					SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y|SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y	p.H242Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	8	900	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	242			PXA.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.724C>T	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	7.051	0.564490	0.13498	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.31247	1.96;1.92;1.5;1.94;1.92;1.93	5.39	5.39	0.77823	Phox-associated domain (2);	0.169061	0.50627	D	0.000120	T	0.11922	0.0290	N	0.22421	0.69	0.37448	D	0.914689	B;B;B;B	0.28291	0.009;0.206;0.018;0.004	B;B;B;B	0.27076	0.029;0.076;0.049;0.029	T	0.05971	-1.0853	10	0.59425	D	0.04	-4.7065	12.4906	0.55897	0.0765:0.0:0.9235:0.0	.	242;198;242;190	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	Y	198;242;242;190;242;169	ENSP00000257769:H198Y;ENSP00000313121:H242Y;ENSP00000420938:H242Y;ENSP00000427380:H190Y;ENSP00000358641:H242Y;ENSP00000425630:H169Y	ENSP00000313121:H242Y	H	-	1	0	SNX14	86316227	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.306000	0.65756	2.539000	0.85634	0.484000	0.47621	CAC		0.333	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		63	323	0	0	0	1	0	63	323				
TMEM201	199953	broad.mit.edu	37	1	9661306	9661306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661306G>A	ENST00000340381.6	+	5	759	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TMEM201_ENST00000340305.5_Silent_p.L250L|TMEM201_ENST00000377376.4_Silent_p.L250L	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCCCTGCCACCTGGTG	0.697																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(748-750)ctG>ctA		transmembrane protein 201							44.0	46.0	45.0					1																	9661306		2203	4298	6501	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9661306G>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.750G>A	1.37:g.9661306G>A						TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340381.6_Silent_p.L250L	p.L250L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	759	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	250					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.750G>A	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223772	0.22457	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	4.06	0.47325	.	.	.	.	.	T	0.60117	0.2244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56932	-0.7897	4	.	.	.	-15.5829	9.92	0.41459	0.0961:0.0:0.9039:0.0	.	.	.	.	T	160	.	.	A	+	1	0	TMEM201	9583893	0.988000	0.35896	0.999000	0.59377	0.943000	0.58893	1.617000	0.36943	1.069000	0.40788	0.563000	0.77884	GCC		0.697	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		20	375	0	0	0	1	0	20	375				
CYB5R1	51706	broad.mit.edu	37	1	202932821	202932821	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202932821G>A	ENST00000367249.4	-	7	668	c.594C>T	c.(592-594)atC>atT	p.I198I	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	198					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	GGACTTTCAGGATGGCCCGGA	0.512																																						ENST00000367249.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(592-594)atC>atT		cytochrome b5 reductase 1							130.0	107.0	115.0					1																	202932821		2203	4300	6503	SO:0001819	synonymous_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202932821G>A	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.594C>T	1.37:g.202932821G>A						CYB5R1_ENST00000497655.1_5'UTR	p.I198I	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		7	668	-			198					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	37	c.594C>T	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255216	0.22965	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	T	0.64349	0.2590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63143	-0.6703	4	.	.	.	-5.9597	12.7787	0.57464	0.0791:0.0:0.9209:0.0	.	.	.	.	F	130	.	.	S	-	2	0	CYB5R1	201199444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.985000	0.49362	1.499000	0.48617	0.655000	0.94253	TCC		0.512	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		4	79	0	0	0	1	0	4	79				
SLIT2	9353	broad.mit.edu	37	4	20555519	20555519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20555519C>T	ENST00000504154.1	+	26	2905	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	885	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAATTGCTCGTTGTGCTGG	0.408																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2653-2655)Cgt>Tgt		slit homolog 2 (Drosophila)							139.0	131.0	134.0					4																	20555519		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20555519C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2653C>T	4.37:g.20555519C>T	ENSP00000422591:p.Arg885Cys					SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C	p.R885C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			26	2905	+			885			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2653C>T	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966759|3.966759	0.74131|0.74131	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	D;D;T;T;D|.	0.90324|.	-1.5;-1.51;-1.42;-1.49;-2.65|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Cysteine-rich flanking region, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84575|0.84575	0.5502|0.5502	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.995;0.999|.	D|D	0.87960|0.87960	0.2729|0.2729	10|5	0.62326|.	D|.	0.03|.	.|.	14.1363|14.1363	0.65289|0.65289	0.1501:0.8499:0.0:0.0|0.1501:0.8499:0.0:0.0	.|.	877;885|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	C|L	877;885;889;881;881;86|15	ENSP00000427548:R877C;ENSP00000422591:R885C;ENSP00000273739:R889C;ENSP00000422261:R881C;ENSP00000421975:R86C|.	ENSP00000273739:R889C|.	R|S	+|+	1|2	0|0	SLIT2|SLIT2	20164617|20164617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.690000|0.690000	0.40134|0.40134	5.890000|5.890000	0.69774|0.69774	2.633000|2.633000	0.89246|0.89246	0.460000|0.460000	0.39030|0.39030	CGT|TCG		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			10	545	0	0	0	1	0	10	545				
REG3G	130120	broad.mit.edu	37	2	79253879	79253879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79253879C>A	ENST00000272324.5	+	3	301	c.117C>A	c.(115-117)agC>agA	p.S39R	REG3G_ENST00000409471.1_Missense_Mutation_p.S39R|REG3G_ENST00000393897.2_Missense_Mutation_p.S39R	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	39					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACGGATCAGCTGTCCCAAAG	0.527																																						ENST00000272324.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(115-117)agC>agA		regenerating islet-derived 3 gamma							85.0	82.0	83.0					2																	79253879		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253879C>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.117C>A	2.37:g.79253879C>A	ENSP00000272324:p.Ser39Arg					REG3G_ENST00000409471.1_Missense_Mutation_p.S39R|REG3G_ENST00000393897.2_Missense_Mutation_p.S39R	p.S39R	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			3	301	+			39					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.117C>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151243	0.21371	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.17528	4.2;4.2;2.27	5.05	0.0749	0.14397	C-type lectin-like (1);	0.501906	0.20367	N	0.093738	T	0.12603	0.0306	L	0.48642	1.525	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.007;0.004	T	0.18967	-1.0320	10	0.45353	T	0.12	.	4.9812	0.14166	0.0:0.4397:0.3079:0.2524	.	39;39	Q3SYE6;Q6UW15	.;REG3G_HUMAN	R	39	ENSP00000377475:S39R;ENSP00000272324:S39R;ENSP00000387105:S39R	ENSP00000272324:S39R	S	+	3	2	REG3G	79107387	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.550000	0.06034	-0.090000	0.12462	0.655000	0.94253	AGC		0.527	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		58	181	1	0	1.84395e-34	1	2.19361e-34	58	181				
TIAM1	7074	broad.mit.edu	37	21	32526607	32526607	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32526607C>A	ENST00000286827.3	-	18	3600	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1043	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCAGATCACCTTGCGCAGCT	0.567																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3127-3129)aaG>aaT		T-cell lymphoma invasion and metastasis 1							89.0	82.0	85.0					21																	32526607		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32526607C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3129G>T	21.37:g.32526607C>A	ENSP00000286827:p.Lys1043Asn					TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	p.K1043N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			18	3600	-			1043			DH.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3129G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955449	0.73902	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.67865	-0.29;-0.29	6.17	3.4	0.38934	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.69544	-0.5117	10	0.39692	T	0.17	.	10.7591	0.46253	0.0:0.7469:0.0:0.2531	.	983;983;1043	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	N	1043;884;983	ENSP00000286827:K1043N;ENSP00000441570:K983N	ENSP00000286827:K1043N	K	-	3	2	TIAM1	31448478	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	0.843000	0.27640	0.948000	0.37687	0.655000	0.94253	AAG		0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		67	238	1	0	6.1719e-39	1	7.45173e-39	67	238				
AGPAT3	56894	broad.mit.edu	37	21	45379592	45379592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45379592G>T	ENST00000398063.2	+	2	522	c.30G>T	c.(28-30)caG>caT	p.Q10H	AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	10					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGAAGACCCAGTTCGTGCTGC	0.642																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(28-30)caG>caT		1-acylglycerol-3-phosphate O-acyltransferase 3							129.0	99.0	109.0					21																	45379592		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45379592G>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.30G>T	21.37:g.45379592G>T	ENSP00000381140:p.Gln10His					AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H	p.Q10H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	2	522	+			10					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.30G>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215506	0.39102	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000448845;ENST00000422850;ENST00000546158	T;T;T;T;T;T;T;T	0.44881	1.49;1.49;1.49;1.49;1.49;0.91;0.91;1.49	4.43	3.54	0.40534	.	2.255560	0.01928	N	0.040995	T	0.46132	0.1377	L	0.57536	1.79	0.40417	D	0.979809	B	0.20671	0.047	B	0.23419	0.046	T	0.21314	-1.0249	10	0.15066	T	0.55	-7.4377	13.7342	0.62807	0.0:0.0:0.8447:0.1553	.	10	Q9NRZ7	PLCC_HUMAN	H	10	ENSP00000291572:Q10H;ENSP00000381138:Q10H;ENSP00000332989:Q10H;ENSP00000381140:Q10H;ENSP00000381135:Q10H;ENSP00000413906:Q10H;ENSP00000414440:Q10H;ENSP00000443510:Q10H	ENSP00000291572:Q10H	Q	+	3	2	AGPAT3	44204020	1.000000	0.71417	0.972000	0.41901	0.513000	0.34164	3.553000	0.53713	0.843000	0.35070	0.398000	0.26397	CAG		0.642	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		123	411	1	0	3.8324e-49	1	4.73866e-49	123	411				
SLC35F6	54978	broad.mit.edu	37	2	27000925	27000925	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27000925T>G	ENST00000344420.5	+	6	724	c.662T>G	c.(661-663)gTg>gGg	p.V221G	SLC35F6_ENST00000416475.2_Missense_Mutation_p.V138G|SLC35F6_ENST00000482746.1_3'UTR|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	221					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TTTGGCTTTGTGATCCTCTCC	0.607																																						ENST00000344420.5																			0											c.(661-663)gTg>gGg		solute carrier family 35, member F6							150.0	137.0	142.0					2																	27000925		2203	4300	6503	SO:0001583	missense	54978							g.chr2:27000925T>G	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.662T>G	2.37:g.27000925T>G	ENSP00000345528:p.Val221Gly					CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.V138G|SLC35F6_ENST00000482746.1_3'UTR	p.V221G	NM_017877.3	NP_060347.2					6	724	+								D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	c.662T>G	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477788	0.44044	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.35	5.35	0.76521	.	0.173476	0.49916	D	0.000131	T	0.57184	0.2036	L	0.52126	1.63	0.80722	D	1	B;B;B	0.19445	0.008;0.036;0.001	B;B;B	0.19666	0.006;0.026;0.006	T	0.54323	-0.8311	9	0.37606	T	0.19	.	14.1701	0.65503	0.0:0.0:0.0:1.0	.	74;138;221	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	G	221;138	.	ENSP00000345528:V221G	V	+	2	0	C2orf18	26854429	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.519000	0.67074	2.037000	0.60232	0.459000	0.35465	GTG		0.607	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		98	316	0	0	0	1	0	98	316				
LY75	4065	broad.mit.edu	37	2	160741799	160741799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160741799G>A	ENST00000263636.4	-	6	946	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P307S|LY75_ENST00000554112.1_Missense_Mutation_p.P307S|LY75_ENST00000553424.1_Missense_Mutation_p.P307S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P307S	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	307	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGTGCACTGGGCCTGTCTTAA	0.433																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(919-921)Ccc>Tcc		lymphocyte antigen 75							95.0	99.0	98.0					2																	160741799		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160741799G>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.919C>T	2.37:g.160741799G>A	ENSP00000263636:p.Pro307Ser					LY75_ENST00000554112.1_Missense_Mutation_p.P307S|LY75_ENST00000553424.1_Missense_Mutation_p.P307S|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P307S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P307S	p.P307S	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	6	946	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.919C>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189607	0.38707	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.77	3.98	0.46160	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.34959	N	0.003546	T	0.59783	0.2219	L	0.56396	1.775	0.09310	N	1	B;B;B	0.28636	0.218;0.035;0.052	B;B;B	0.23150	0.037;0.044;0.037	T	0.55147	-0.8186	10	0.56958	D	0.05	0.0041	10.5371	0.45011	0.1508:0.0:0.8492:0.0	.	307;307;307	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	S	307	ENSP00000451511:P307S;ENSP00000451446:P307S;ENSP00000263636:P307S;ENSP00000423463:P307S;ENSP00000421035:P307S	ENSP00000423463:P307S	P	-	1	0	LY75;LY75-CD302	160450045	0.020000	0.18652	0.001000	0.08648	0.376000	0.30014	1.304000	0.33482	0.800000	0.34041	0.650000	0.86243	CCC		0.433	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			132	427	0	0	0	1	0	132	427				
VPS37A	137492	broad.mit.edu	37	8	17132334	17132334	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132334T>G	ENST00000324849.4	+	5	1183	c.509T>G	c.(508-510)aTc>aGc	p.I170S	VPS37A_ENST00000324815.3_Nonsense_Mutation_p.Y179*|VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	170					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AACAGGAGTATCACTTCTTTA	0.438																																						ENST00000324815.3																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(535-537)taT>taG		vacuolar protein sorting 37 homolog A (S. cerevisiae)							125.0	106.0	112.0					8																	17132334		2203	4300	6503	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17132334T>G		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.509T>G	8.37:g.17132334T>G	ENSP00000318629:p.Ile170Ser					VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S|VPS37A_ENST00000324849.4_Missense_Mutation_p.I170S	p.Y179*			Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	6	890	+			52					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Nonsense_Mutation	SNP	ENST00000324849.4	37	c.537T>G	CCDS6001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.87|15.87	2.959567|2.959567	0.53400|0.53400	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.54279|.	0.58;0.58|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	1.238420|.	0.05339|.	N|.	0.529836|.	T|.	0.24084|.	0.0583|.	N|N	0.14661|0.14661	0.345|0.345	0.21256|0.21256	N|N	0.999748|0.999748	B;B|.	0.19200|.	0.034;0.006|.	B;B|.	0.18561|.	0.022;0.01|.	T|.	0.08146|.	-1.0736|.	10|.	0.07644|0.02654	T|T	0.81|1	-2.6082|-2.6082	12.9954|12.9954	0.58644|0.58644	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	145;170|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|X	170;145|179	ENSP00000318629:I170S;ENSP00000429680:I145S|.	ENSP00000318629:I170S|ENSP00000318173:Y179X	I|Y	+|+	2|3	0|2	VPS37A|VPS37A	17176705|17176705	0.959000|0.959000	0.32827|0.32827	0.050000|0.050000	0.19076|0.19076	0.793000|0.793000	0.44817|0.44817	2.537000|2.537000	0.45702|0.45702	2.154000|2.154000	0.67381|0.67381	0.472000|0.472000	0.43445|0.43445	ATC|TAT		0.438	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		73	316	0	0	0	1	0	73	316				
PES1	23481	broad.mit.edu	37	22	30980611	30980611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30980611G>A	ENST00000405677.1	-	7	988	c.45C>T	c.(43-45)caC>caT	p.H15H	PES1_ENST00000402281.1_Silent_p.H15H|PES1_ENST00000402284.3_Silent_p.H154H|PES1_ENST00000354694.7_Silent_p.H154H|PES1_ENST00000335214.6_Silent_p.H154H	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGTCTGCACGTGGCACTTGC	0.617																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(43-45)caC>caT		pescadillo ribosomal biogenesis factor 1							79.0	54.0	62.0					22																	30980611		2203	4300	6503	SO:0001819	synonymous_variant	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30980611G>A	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.45C>T	22.37:g.30980611G>A						PES1_ENST00000354694.6_Silent_p.H154H|PES1_ENST00000335214.6_Silent_p.H154H|PES1_ENST00000405677.1_Silent_p.H15H|PES1_ENST00000402284.3_Silent_p.H154H	p.H15H			O00541	PESC_HUMAN			7	1036	-			154			Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.			Silent	SNP	ENST00000405677.1	37	c.45C>T																																																																																					0.617	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		31	142	0	0	0	1	0	31	142				
FBXO7	25793	broad.mit.edu	37	22	32875119	32875119	+	Missense_Mutation	SNP	G	G	T	rs139135860	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875119G>T	ENST00000266087.7	+	2	601	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	92	Important for interaction with PINK1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCATCCACAGATTCAGAGCA	0.433																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(274-276)Gat>Tat		F-box protein 7							175.0	176.0	176.0					22																	32875119		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32875119G>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.274G>T	22.37:g.32875119G>T	ENSP00000266087:p.Asp92Tyr					FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000465418.1_3'UTR	p.D92Y	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			2	601	+			92					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.274G>T	CCDS13907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061175|3.061175	0.55432|0.55432	.|.	.|.	ENSG00000100225|ENSG00000100225	ENST00000452138;ENST00000382058|ENST00000266087	.|T	.|0.56941	.|0.43	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.341251	.|0.31697	.|N	.|0.007220	.|T	.|0.57021	.|0.2025	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|P	.|0.52316	.|0.952	.|P	.|0.47645	.|0.553	.|T	.|0.61676	.|-0.7014	.|10	.|0.52906	.|T	.|0.07	.|-13.235	9.1792|9.1792	0.37131|0.37131	0.0:0.1374:0.6345:0.228|0.0:0.1374:0.6345:0.228	.|.	.|92	.|Q9Y3I1	.|FBX7_HUMAN	.|Y	-1|92	.|ENSP00000266087:D92Y	.|ENSP00000266087:D92Y	.|D	+|+	.|1	.|0	FBXO7|FBXO7	31205119|31205119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.211000|2.211000	0.42825|0.42825	2.553000|2.553000	0.86117|0.86117	0.555000|0.555000	0.69702|0.69702	.|GAT		0.433	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			195	684	1	0	5.43764e-100	1	6.99375e-100	195	684				
PALLD	23022	broad.mit.edu	37	4	169433122	169433122	+	Missense_Mutation	SNP	C	C	T	rs114877850	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433122C>T	ENST00000505667.1	+	2	640	c.467C>T	c.(466-468)aCg>aTg	p.T156M	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.T33M|PALLD_ENST00000261509.6_Missense_Mutation_p.T156M			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	156					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAGCCCAAAACGCCACATCAA	0.522									Pancreatic Cancer, Familial Clustering of				C|||	2	0.000399361	0.0	0.0	5008	,	,		18658	0.001		0.001	False		,,,				2504	0.0				Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(466-468)aCg>aTg		palladin, cytoskeletal associated protein		C	MET/THR,MET/THR	0,4406		0,0,2203	49.0	57.0	54.0		467,467	2.8	0.0	4	dbSNP_132	54	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PALLD	NM_001166108.1,NM_016081.3	81,81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	156/1124,156/1107	169433122	4,13002	2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433122C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.467C>T	4.37:g.169433122C>T	ENSP00000425556:p.Thr156Met					PALLD_ENST00000333488.4_Missense_Mutation_p.T33M|PALLD_ENST00000505667.1_Missense_Mutation_p.T156M|PALLD_ENST00000335742.7_5'UTR	p.T156M	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	678	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	156					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.467C>T	CCDS54818.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	12.62	1.993785	0.35131	0.0	4.65E-4	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.63255	0.07;0.34;-0.03;-0.0	5.55	2.78	0.32641	.	0.958654	0.08440	U	0.945659	T	0.43875	0.1267	N	0.14661	0.345	0.23346	N	0.997863	B;B	0.15141	0.012;0.012	B;B	0.06405	0.002;0.002	T	0.31971	-0.9924	10	0.45353	T	0.12	.	7.1341	0.25519	0.1355:0.7201:0.0:0.1444	.	156;156	B7ZMM5;B2RTX2	.;.	M	156;156;135;33	ENSP00000261509:T156M;ENSP00000425556:T156M;ENSP00000423063:T135M;ENSP00000328945:T33M	ENSP00000261509:T156M	T	+	2	0	PALLD	169669697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	0.669000	0.31146	-0.198000	0.12761	ACG		0.522	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		13	415	0	0	0	1	0	13	415				
GBF1	8729	broad.mit.edu	37	10	104119161	104119161	+	Silent	SNP	C	C	T	rs535374345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104119161C>T	ENST00000369983.3	+	11	1406	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	382					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATCCCCGGGGCGTGCGCTTTA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20277	0.0		0.0	False		,,,				2504	0.001					ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1144-1146)ggC>ggT		golgi brefeldin A resistant guanine nucleotide exchange factor 1							142.0	108.0	119.0					10																	104119161		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104119161C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1146C>T	10.37:g.104119161C>T						GBF1_ENST00000476019.1_3'UTR	p.G382G	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	11	1406	+		Colorectal(252;0.0236)	382					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.1146C>T	CCDS7533.1																																																																																				0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			15	270	0	0	0	1	0	15	270				
ANKLE2	23141	broad.mit.edu	37	12	133306443	133306443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133306443C>T	ENST00000357997.5	-	11	2394	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Missense_Mutation_p.A707T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	769					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTTTCTACTGCATTGATTCTT	0.423																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2119-2121)Gca>Aca		ankyrin repeat and LEM domain containing 2							164.0	157.0	159.0					12																	133306443		1967	4164	6131	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306443C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2305G>A	12.37:g.133306443C>T	ENSP00000350686:p.Ala769Thr					ANKLE2_ENST00000357997.5_Missense_Mutation_p.A769T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T	p.A707T			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	10	8803	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	769					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.2119G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581649	0.28180	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.45668	1.92;1.91;0.89;0.89;0.89	5.59	-5.42	0.02640	.	2.199350	0.01281	N	0.009726	T	0.32675	0.0837	L	0.54323	1.7	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.13176	-1.0519	10	0.41790	T	0.15	-12.5222	1.7488	0.02967	0.1812:0.1285:0.3542:0.3362	.	769	Q86XL3	ANKL2_HUMAN	T	707;769;124;124;124	ENSP00000446268:A707T;ENSP00000350686:A769T;ENSP00000437807:A124T;ENSP00000438551:A124T;ENSP00000445760:A124T	ENSP00000350686:A769T	A	-	1	0	ANKLE2	131816516	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.363000	0.07593	-0.884000	0.03976	-0.872000	0.02987	GCA		0.423	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			79	399	0	0	0	1	0	79	399				
RYR1	6261	broad.mit.edu	37	19	38937111	38937111	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38937111G>T	ENST00000359596.3	+	8	631		c.e8-1		RYR1_ENST00000355481.4_Splice_Site|RYR1_ENST00000360985.3_Splice_Site			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTCCTCTCCAGGCTTCGTGAC	0.602																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e8-1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						68.0	57.0	61.0					19																	38937111		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38937111G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.632-1G>T	19.37:g.38937111G>T						RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site		NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	762	+	all_cancers(60;7.91e-06)							Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37		CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041738	0.55003	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9087	0.79450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR1	43628951	1.000000	0.71417	0.995000	0.50966	0.417000	0.31264	7.361000	0.79497	2.627000	0.88993	0.563000	0.77884	.		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Intron	47	178	1	0	9.58827e-17	1	1.05493e-16	47	178				
ASTN1	460	broad.mit.edu	37	1	176915202	176915202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176915202C>T	ENST00000367654.3	-	13	2344	c.2133G>A	c.(2131-2133)acG>acA	p.T711T	ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000367657.3_Silent_p.T703T|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	711					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACAGGTCTCCGTGATGAGTT	0.498																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2131-2133)acG>acA		astrotactin 1							111.0	99.0	103.0					1																	176915202		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915202C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2133G>A	1.37:g.176915202C>T						ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.T703T|ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000361833.2_Silent_p.T703T	p.T711T			O14525	ASTN1_HUMAN			13	2146	-			711					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2133G>A																																																																																					0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		89	443	0	0	0	1	0	89	443				
LEMD2	221496	broad.mit.edu	37	6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	435					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1303-1305)Cgc>Tgc		LEM domain containing 2							122.0	98.0	106.0					6																	33744789		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744789G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1303C>T	6.37:g.33744789G>A	ENSP00000293760:p.Arg435Cys					LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C	p.R435C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			8	1322	-			435					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1303C>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626849|4.626849	0.87560|0.87560	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000506578;ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Inner nuclear membrane protein MAN1 (1);	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.96	T|T	0.59467|0.59467	-0.7449|-0.7449	5|9	.|0.37606	.|T	.|0.19	-4.7724|-4.7724	13.0204|13.0204	0.58784|0.58784	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|435;396	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	V|C	82|18;435;133	.|.	.|ENSP00000293760:R435C	A|R	-|-	2|1	0|0	LEMD2|LEMD2	33852767|33852767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.154000|6.154000	0.71826|0.71826	2.653000|2.653000	0.90120|0.90120	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.617	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		77	279	0	0	0	1	0	77	279				
KIAA0895	23366	broad.mit.edu	37	7	36373480	36373480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36373480C>A	ENST00000297063.6	-	5	1341	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000317020.6_Missense_Mutation_p.D380Y|KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000480192.1_5'UTR	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	431										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGAAGTATCAGTCCATCCC	0.413																																						ENST00000317020.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1138-1140)Gat>Tat		KIAA0895							87.0	87.0	87.0					7																	36373480		1889	4114	6003	SO:0001583	missense	23366							g.chr7:36373480C>A	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1291G>T	7.37:g.36373480C>A	ENSP00000297063:p.Asp431Tyr					KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y|KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000297063.6_Missense_Mutation_p.D431Y|KIAA0895_ENST00000480192.1_5'UTR	p.D380Y	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN			4	1438	-			431					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.1138G>T	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604059	0.87157	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.997	D;D;D;D;D	0.74674	0.984;0.984;0.984;0.958;0.933	D	0.85507	0.1195	9	0.87932	D	0	-21.055	18.7786	0.91922	0.0:1.0:0.0:0.0	.	428;328;431;418;380	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	Y	431;418;380;428;328;186	.	ENSP00000297063:D431Y	D	-	1	0	KIAA0895	36340005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.714000	0.54889	2.515000	0.84797	0.655000	0.94253	GAT		0.413	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		28	357	1	0	4.87955e-14	1	5.28594e-14	28	357				
ASPM	259266	broad.mit.edu	37	1	197069629	197069629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197069629C>A	ENST00000367409.4	-	18	9008	c.8752G>T	c.(8752-8754)Gct>Tct	p.A2918S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2918	IQ 33. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACTTCTAGCTTGAATAATG	0.299																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(8752-8754)Gct>Tct		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							55.0	57.0	56.0					1																	197069629		2203	4296	6499	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197069629C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8752G>T	1.37:g.197069629C>A	ENSP00000356379:p.Ala2918Ser					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.A2918S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	9008	-			2918			IQ 33.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8752G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081809	0.36758	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72394	-0.65	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000004	T	0.81202	0.4773	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.87578	0.642;0.998	T	0.77440	-0.2587	10	0.20519	T	0.43	.	13.7795	0.63075	0.1536:0.8464:0.0:0.0	.	904;2918	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2918;904	ENSP00000356379:A2918S	ENSP00000356376:A904S	A	-	1	0	ASPM	195336252	0.993000	0.37304	0.996000	0.52242	0.374000	0.29953	0.671000	0.25172	2.530000	0.85305	0.563000	0.77884	GCT		0.299	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		28	179	1	0	3.99451e-17	1	4.40333e-17	28	179				
SPATA31E1	286234	broad.mit.edu	37	9	90502006	90502006	+	Silent	SNP	G	G	A	rs551924151		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90502006G>A	ENST00000325643.5	+	4	2670	c.2604G>A	c.(2602-2604)ccG>ccA	p.P868P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	868					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCAGGCCCCGCCCTTCCCAC	0.552													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18618	0.0		0.0	False		,,,				2504	0.0					ENST00000325643.5																			0											c.(2602-2604)ccG>ccA		SPATA31 subfamily E, member 1							43.0	41.0	42.0					9																	90502006		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90502006G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2604G>A	9.37:g.90502006G>A							p.P868P	NM_178828.4	NP_849150.3					4	2670	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.2604G>A	CCDS6676.1																																																																																				0.552	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		29	146	0	0	0	1	0	29	146				
ZSCAN23	222696	broad.mit.edu	37	6	28403940	28403940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28403940C>T	ENST00000289788.4	-	2	249	c.104G>A	c.(103-105)gGc>gAc	p.G35D	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	35					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						TCTTGACAGGCCTGATTCTGG	0.527																																						ENST00000289788.4																			0				breast(1)|prostate(1)|stomach(2)	4						c.(103-105)gGc>gAc		zinc finger and SCAN domain containing 23							16.0	16.0	16.0					6																	28403940		692	1591	2283	SO:0001583	missense	222696				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28403940C>T	AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.104G>A	6.37:g.28403940C>T	ENSP00000289788:p.Gly35Asp					ZSCAN23_ENST00000486481.1_Intron	p.G35D	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN			2	249	-			35					Q96KV9	Missense_Mutation	SNP	ENST00000289788.4	37	c.104G>A	CCDS47393.1	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176280	0.21704	.	.	ENSG00000187987	ENST00000289788	T	0.05258	3.47	3.01	2.13	0.27403	.	0.247697	0.21216	N	0.078222	T	0.00845	0.0028	N	0.08118	0	0.22918	N	0.998565	B;B	0.14012	0.008;0.009	B;B	0.16289	0.015;0.008	T	0.48091	-0.9065	10	0.11794	T	0.64	.	8.0804	0.30741	0.0:0.8729:0.0:0.1271	.	35;35	G3V1D5;Q3MJ62	.;ZSC23_HUMAN	D	35	ENSP00000289788:G35D	ENSP00000289788:G35D	G	-	2	0	ZSCAN23	28511919	0.002000	0.14202	0.062000	0.19696	0.988000	0.76386	0.291000	0.18994	0.798000	0.33994	0.557000	0.71058	GGC		0.527	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043751.2	XM_167147		14	45	0	0	0	1	0	14	45				
SSTR1	6751	broad.mit.edu	37	14	38679130	38679130	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38679130T>C	ENST00000267377.2	+	3	1153	c.536T>C	c.(535-537)cTg>cCg	p.L179P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	179					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GTAGTAAACCTGGGCGTGTGG	0.642																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(535-537)cTg>cCg		somatostatin receptor 1	Octreotide(DB00104)						78.0	77.0	77.0					14																	38679130		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679130T>C		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.536T>C	14.37:g.38679130T>C	ENSP00000267377:p.Leu179Pro						p.L179P	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1153	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		179						Missense_Mutation	SNP	ENST00000267377.2	37	c.536T>C	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370844	0.61624	.	.	ENSG00000139874	ENST00000267377	T	0.42513	0.97	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000320	T	0.61299	0.2336	M	0.78344	2.41	0.80722	D	1	D	0.54207	0.965	P	0.60886	0.88	T	0.64449	-0.6405	10	0.48119	T	0.1	.	13.7174	0.62705	0.0:0.0:0.0:1.0	.	179	P30872	SSR1_HUMAN	P	179	ENSP00000267377:L179P	ENSP00000267377:L179P	L	+	2	0	SSTR1	37748881	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.923000	0.56469	2.034000	0.60081	0.459000	0.35465	CTG		0.642	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			73	299	0	0	0	1	0	73	299				
SLC28A1	9154	broad.mit.edu	37	15	85478712	85478712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85478712C>T	ENST00000286749.3	+	14	1634	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron|RNU6-339P_ENST00000384310.1_RNA|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A515V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	515					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTGGCAGGGGCCGAGGAGTGG	0.617																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1543-1545)gCc>gTc		solute carrier family 28 (concentrative nucleoside transporter), member 1							107.0	102.0	104.0					15																	85478712		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478712C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1544C>T	15.37:g.85478712C>T	ENSP00000286749:p.Ala515Val					SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.A515V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V	p.A515V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		15	1746	+			515					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1544C>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	0.434	-0.902119	0.02453	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.01933	4.55;4.66;4.69;4.69	5.19	-7.83	0.01201	Na dependent nucleoside transporter, C-terminal (1);	1.306430	0.04674	N	0.411195	T	0.01189	0.0039	N	0.02275	-0.615	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.47749	-0.9093	10	0.15952	T	0.53	-16.176	15.5491	0.76133	0.0:0.3386:0.0:0.6614	.	515;515;515	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	515	ENSP00000440546:A515V;ENSP00000444700:A515V;ENSP00000286749:A515V;ENSP00000378074:A515V	ENSP00000286749:A515V	A	+	2	0	SLC28A1	83279716	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.457000	0.06745	-1.555000	0.01697	-1.360000	0.01215	GCC		0.617	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			28	707	0	0	0	1	0	28	707				
DLX6	1750	broad.mit.edu	37	7	96639182	96639182	+	Silent	SNP	C	C	T	rs371198246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639182C>T	ENST00000518156.2	+	3	1135	c.705C>T	c.(703-705)agC>agT	p.S235S	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	117					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCATGAGAGCGACCCCCTCC	0.567													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17714	0.002		0.0	False		,,,				2504	0.0					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(703-705)agC>agT		distal-less homeobox 6		C		1,4199		0,1,2099	55.0	58.0	57.0		705	-5.5	0.7	7		57	1,8497		0,1,4248	no	coding-synonymous	DLX6	NM_005222.3		0,2,6347	TT,TC,CC		0.0118,0.0238,0.0158		235/294	96639182	2,12696	2100	4249	6349	SO:0001819	synonymous_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639182C>T		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.705C>T	7.37:g.96639182C>T						DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR	p.S235S			P56179	DLX6_HUMAN			3	1135	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		117					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	37	c.705C>T	CCDS47647.2																																																																																				0.567	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		89	283	0	0	0	1	0	89	283				
CUBN	8029	broad.mit.edu	37	10	17113900	17113900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113900G>A	ENST00000377833.4	-	18	2437	c.2372C>T	c.(2371-2373)aCt>aTt	p.T791I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	791	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACACTATTAGTAATGGATTT	0.333																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2371-2373)aCt>aTt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						55.0	55.0	55.0					10																	17113900		2203	4299	6502	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17113900G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2372C>T	10.37:g.17113900G>A	ENSP00000367064:p.Thr791Ile						p.T791I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			18	2437	-			791			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2372C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049988	0.55218	.	.	ENSG00000107611	ENST00000377833	T	0.30981	1.51	5.31	4.39	0.52855	CUB (5);	1.052280	0.07594	N	0.922464	T	0.45196	0.1330	L	0.54323	1.7	0.80722	D	1	P	0.48016	0.904	P	0.50136	0.632	T	0.19451	-1.0305	10	0.66056	D	0.02	.	15.1678	0.72842	0.0:0.3347:0.6653:0.0	.	791	O60494	CUBN_HUMAN	I	791	ENSP00000367064:T791I	ENSP00000367064:T791I	T	-	2	0	CUBN	17153906	1.000000	0.71417	0.571000	0.28486	0.745000	0.42441	5.152000	0.64882	1.224000	0.43551	0.454000	0.30748	ACT		0.333	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		19	161	0	0	0	1	0	19	161				
PCDHB8	56128	broad.mit.edu	37	5	140558420	140558420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558420G>A	ENST00000239444.2	+	1	1050	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	269	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCCACGGATGTAGACAC	0.433																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(805-807)Gat>Aat									190.0	256.0	233.0					5																	140558420		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558420G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.805G>A	5.37:g.140558420G>A	ENSP00000239444:p.Asp269Asn						p.D269N	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1050	+			269			Cadherin 3.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.805G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416301	0.42918	.	.	ENSG00000120322	ENST00000239444	T	0.74526	-0.85	4.25	4.25	0.50352	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.91566	0.7336	H	0.98351	4.21	0.36061	D	0.841464	D	0.89917	1.0	D	0.97110	1.0	D	0.97214	0.9873	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	269	Q9UN66	PCDB8_HUMAN	N	269	ENSP00000239444:D269N	ENSP00000239444:D269N	D	+	1	0	PCDHB8	140538604	1.000000	0.71417	0.065000	0.19835	0.105000	0.19272	9.768000	0.98965	1.911000	0.55334	0.585000	0.79938	GAT		0.433	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		167	1595	0	0	0	1	0	167	1595				
KDM4A	9682	broad.mit.edu	37	1	44163605	44163605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163605G>T	ENST00000372396.3	+	19	2896	c.2762G>T	c.(2761-2763)aGg>aTg	p.R921M	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	921	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGTGGTCAGGCTCACCACC	0.493																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2761-2763)aGg>aTg		lysine (K)-specific demethylase 4A							122.0	117.0	119.0					1																	44163605		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44163605G>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2762G>T	1.37:g.44163605G>T	ENSP00000361473:p.Arg921Met						p.R921M	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			19	2896	+			921			Tudor 1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2762G>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855743	0.51376	.	.	ENSG00000066135	ENST00000372396	T	0.71698	-0.59	6.08	1.2	0.21068	Tudor domain (1);	0.358324	0.35772	N	0.002996	T	0.52289	0.1725	N	0.22421	0.69	0.28794	N	0.899132	P	0.35600	0.511	B	0.34824	0.19	T	0.51196	-0.8736	10	0.56958	D	0.05	-12.0289	8.7145	0.34403	0.1434:0.412:0.4446:0.0	.	921	O75164	KDM4A_HUMAN	M	921	ENSP00000361473:R921M	ENSP00000361473:R921M	R	+	2	0	KDM4A	43936192	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.566000	0.45948	0.334000	0.23590	0.655000	0.94253	AGG		0.493	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		39	335	1	0	2.59497e-14	1	2.81812e-14	39	335				
CHST14	113189	broad.mit.edu	37	15	40764185	40764185	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40764185T>C	ENST00000306243.5	+	1	1026	c.773T>C	c.(772-774)gTc>gCc	p.V258A	CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	258					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGACGATGTCACATTCCCC	0.597																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(772-774)gTc>gCc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							108.0	117.0	114.0					15																	40764185		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764185T>C	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.773T>C	15.37:g.40764185T>C	ENSP00000307297:p.Val258Ala					CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	p.V258A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1026	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	258					Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.773T>C	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759780	0.69763	.	.	ENSG00000169105	ENST00000306243	T	0.75821	-0.97	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.70228	0.3200	M	0.67625	2.065	0.80722	D	1	P	0.39094	0.659	B	0.38921	0.285	T	0.70967	-0.4728	10	0.40728	T	0.16	-34.1455	8.9559	0.35818	0.0:0.0869:0.0:0.9131	.	258	Q8NCH0	CHSTE_HUMAN	A	258	ENSP00000307297:V258A	ENSP00000307297:V258A	V	+	2	0	CHST14	38551477	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.135000	0.71696	2.109000	0.64355	0.533000	0.62120	GTC		0.597	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		197	782	0	0	0	1	0	197	782				
CLOCK	9575	broad.mit.edu	37	4	56310933	56310933	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56310933A>C	ENST00000309964.4	-	18	1809	c.1559T>G	c.(1558-1560)tTa>tGa	p.L520*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	520	Implicated in the circadian rhythmicity. {ECO:0000250}.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGGCTCCTAATTGAGCTGA	0.343																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1558-1560)tTa>tGa		clock circadian regulator							157.0	137.0	144.0					4																	56310933		2203	4300	6503	SO:0001587	stop_gained	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56310933A>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1559T>G	4.37:g.56310933A>C	ENSP00000308741:p.Leu520*					CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*	p.L520*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		18	1809	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		520			Implicated in the circadian rhythmicity (By similarity).		A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	SNP	ENST00000309964.4	37	c.1559T>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	45	11.808693	0.99605	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.93	5.93	0.95920	.	0.317300	0.32533	N	0.005963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	.	.	.	X	520	.	ENSP00000308741:L520X	L	-	2	0	CLOCK	56005690	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	8.730000	0.91510	2.270000	0.75569	0.460000	0.39030	TTA		0.343	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		47	199	0	0	0	1	0	47	199				
RGPD3	653489	broad.mit.edu	37	2	107041054	107041054	+	Silent	SNP	G	G	T	rs532259308	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107041054G>T	ENST00000409886.3	-	20	3456	c.3369C>A	c.(3367-3369)ctC>ctA	p.L1123L	RGPD3_ENST00000304514.7_Silent_p.L1123L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1123	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGATCCAGAGAGGGGCTTCA	0.438																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3367-3369)ctC>ctA		RANBP2-like and GRIP domain containing 3							2.0	2.0	2.0					2																	107041054		586	1330	1916	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107041054G>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3369C>A	2.37:g.107041054G>T						RGPD3_ENST00000304514.7_Silent_p.L1123L	p.L1123L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	3456	-			1123			RanBD1 1.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.3369C>A	CCDS46379.1																																																																																				0.438	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		40	1267	1	0	1.2476e-16	1	1.37204e-16	40	1267				
KRTAP10-4	386672	broad.mit.edu	37	21	45993726	45993726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45993726G>A	ENST00000400374.3	+	1	121	c.91G>A	c.(91-93)Gac>Aac	p.D31N	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	31						keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCAGGTGGACGACTGCCCAGA	0.682																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(91-93)Gac>Aac		keratin associated protein 10-4							61.0	66.0	64.0					21																	45993726		2080	4194	6274	SO:0001583	missense	386672					keratin filament		g.chr21:45993726G>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.91G>A	21.37:g.45993726G>A	ENSP00000383225:p.Asp31Asn					TSPEAR_ENST00000323084.4_Intron	p.D31N	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	121	+			31					Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.91G>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	10.33	1.319150	0.23994	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.14893	2.47	4.69	0.487	0.16842	.	.	.	.	.	T	0.11239	0.0274	L	0.54323	1.7	0.22468	N	0.999077	P	0.42827	0.791	B	0.36666	0.23	T	0.20140	-1.0284	9	0.11182	T	0.66	.	3.5654	0.07897	0.2943:0.0:0.5321:0.1736	.	31	P60372	KR104_HUMAN	N	31;20	ENSP00000383225:D31N	ENSP00000333987:D20N	D	+	1	0	KRTAP10-4	44818154	0.723000	0.28027	0.976000	0.42696	0.133000	0.20885	0.164000	0.16542	0.164000	0.19529	-0.336000	0.08194	GAC		0.682	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		72	282	0	0	0	1	0	72	282				
PAQR8	85315	broad.mit.edu	37	6	52268953	52268953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268953C>T	ENST00000442253.2	+	2	1116	c.942C>T	c.(940-942)cgC>cgT	p.R314R	PAQR8_ENST00000360726.3_Silent_p.R314R	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	314					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTGCAGCGCCATGGACCCC	0.597																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(940-942)cgC>cgT		progestin and adipoQ receptor family member VIII							48.0	46.0	46.0					6																	52268953		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268953C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.942C>T	6.37:g.52268953C>T						PAQR8_ENST00000360726.3_Silent_p.R314R	p.R314R	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	1116	+	Lung NSC(77;0.0875)		314					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.942C>T	CCDS4941.1																																																																																				0.597	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		27	156	0	0	0	1	0	27	156				
NAA60	79903	broad.mit.edu	37	16	3533542	3533542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3533542G>T	ENST00000407558.4	+	6	820	c.517G>T	c.(517-519)Gat>Tat	p.D173Y	NAA60_ENST00000577013.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608722.1_Missense_Mutation_p.D173Y|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000360862.5_Missense_Mutation_p.D108Y|NAA60_ENST00000575076.1_Missense_Mutation_p.D173Y|NAA60_ENST00000572584.1_Missense_Mutation_p.D173Y|NAA60_ENST00000424546.2_Missense_Mutation_p.D180Y|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000610180.1_Missense_Mutation_p.D173Y|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.D173Y|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000608993.1_Missense_Mutation_p.D108Y|NAA60_ENST00000573580.1_Missense_Mutation_p.D108Y			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	173	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GGTCCTCAAAGATGGCTTCAC	0.493																																						ENST00000407558.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(517-519)Gat>Tat		N(alpha)-acetyltransferase 60, NatF catalytic subunit							138.0	139.0	138.0					16																	3533542		1973	4158	6131	SO:0001583	missense	79903						N-acetyltransferase activity	g.chr16:3533542G>T		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.517G>T	16.37:g.3533542G>T	ENSP00000385903:p.Asp173Tyr					NAA60_ENST00000576916.1_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000360862.5_Missense_Mutation_p.D108Y|NAA60_ENST00000575076.1_Missense_Mutation_p.D173Y|NAA60_ENST00000577013.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000573580.1_Missense_Mutation_p.D108Y|NAA60_ENST00000424546.2_Missense_Mutation_p.D180Y|NAA60_ENST00000572584.1_Missense_Mutation_p.D173Y|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.D173Y|LA16c-306E5.3_ENST00000574423.2_RNA	p.D173Y	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN			6	820	+			173			N-acetyltransferase.		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	c.517G>T	CCDS45396.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792774	0.90453	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.65178	-0.14;0.02;0.02;0.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82495	0.5049	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.85130	0.0974	10	0.87932	D	0	-20.2349	18.6698	0.91507	0.0:0.0:1.0:0.0	.	180;173	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	Y	180;173;173;108	ENSP00000401237:D180Y;ENSP00000385903:D173Y;ENSP00000393224:D173Y;ENSP00000354108:D108Y	ENSP00000354108:D108Y	D	+	1	0	NAA60	3473543	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.368000	0.97152	2.733000	0.93635	0.561000	0.74099	GAT		0.493	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		65	278	1	0	1.15062e-32	1	1.35981e-32	65	278				
KIF9	64147	broad.mit.edu	37	3	47284645	47284645	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47284645G>T	ENST00000265529.3	-	17	2285	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Silent_p.S535S|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Silent_p.S535S|KIF9_ENST00000444589.2_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	535					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATCTTTGGAGGATGGGACCA	0.552																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1603-1605)tcC>tcA		kinesin family member 9							99.0	84.0	89.0					3																	47284645		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47284645G>T	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1605C>A	3.37:g.47284645G>T						KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Silent_p.S535S|KIF9_ENST00000265529.3_Silent_p.S535S|KIF9_ENST00000487440.1_5'UTR	p.S535S	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	1962	-		Acute lymphoblastic leukemia(5;0.164)	535					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.1605C>A	CCDS2752.1																																																																																				0.552	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			7	252	1	0	0.0293803	1	0.0294705	7	252				
OBSCN	84033	broad.mit.edu	37	1	228553839	228553839	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228553839C>T	ENST00000422127.1	+	83	19172	c.19128C>T	c.(19126-19128)ttC>ttT	p.F6376F	OBSCN_ENST00000570156.2_Silent_p.F7333F|OBSCN_ENST00000366707.4_Silent_p.F4010F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6376	Ig-like 54.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCCAATTCGAGGCTATCA	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(21997-21999)ttC>ttT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							78.0	84.0	82.0					1																	228553839		2083	4206	6289	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228553839C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19128C>T	1.37:g.228553839C>T						OBSCN_ENST00000422127.1_Silent_p.F6376F|OBSCN_ENST00000366707.4_Silent_p.F4010F	p.F7333F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			94	22073	+		Prostate(94;0.0405)	6376					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.21999C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280365	0.23392	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.41	0.847	0.18961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.617	0.39698	0.0:0.4472:0.0:0.5528	.	.	.	.	X	993	.	.	R	+	1	2	OBSCN	226620462	0.003000	0.15002	0.976000	0.42696	0.151000	0.21798	-0.314000	0.08092	0.112000	0.17975	0.313000	0.20887	CGA		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		69	342	0	0	0	1	0	69	342				
MIR381HG	378881	broad.mit.edu	37	14	101510584	101510584	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101510584C>T	ENST00000553692.1	+	0	0				MIR1185-2_ENST00000408687.1_RNA|MIR381_ENST00000362150.1_RNA|MIR300_ENST00000401138.1_RNA|MIR487B_ENST00000385021.1_RNA|MIR1185-1_ENST00000408598.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		TGATTAATGGCGAATATACAG	0.502																																						ENST00000408687.1																			0																				103.0	96.0	98.0					14																	101510584		1568	3582	5150			0							g.chr14:101510584C>T	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101510584C>T								NR_031571.1						0	50	+									RNA	SNP	ENST00000553692.1	37																																																																																						0.502	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			17	131	0	0	0	1	0	17	131				
GPR64	10149	broad.mit.edu	37	X	19086907	19086907	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19086907C>T	ENST00000379869.3	-	3	209	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	GPR64_ENST00000379878.3_Missense_Mutation_p.E16K|GPR64_ENST00000379876.1_Missense_Mutation_p.E16K|GPR64_ENST00000357991.3_Missense_Mutation_p.E16K|GPR64_ENST00000354791.3_Missense_Mutation_p.E16K|GPR64_ENST00000379873.2_Missense_Mutation_p.E16K|GPR64_ENST00000356606.4_Missense_Mutation_p.E16K|GPR64_ENST00000357544.3_Missense_Mutation_p.E16K|GPR64_ENST00000340581.3_Missense_Mutation_p.E16K|GPR64_ENST00000360279.4_Missense_Mutation_p.E16K	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	16					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGTAAAACTTCTTCAGTTCTG	0.403																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(46-48)Gaa>Aaa		G protein-coupled receptor 64							157.0	136.0	143.0					X																	19086907		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19086907C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.46G>A	X.37:g.19086907C>T	ENSP00000369198:p.Glu16Lys					GPR64_ENST00000379869.3_Missense_Mutation_p.E16K|GPR64_ENST00000354791.3_Missense_Mutation_p.E16K|GPR64_ENST00000379876.1_Missense_Mutation_p.E16K|GPR64_ENST00000357991.3_Missense_Mutation_p.E16K|GPR64_ENST00000379873.2_Missense_Mutation_p.E16K|GPR64_ENST00000360279.4_Missense_Mutation_p.E16K|GPR64_ENST00000356606.4_Missense_Mutation_p.E16K|GPR64_ENST00000340581.3_Missense_Mutation_p.E16K|GPR64_ENST00000357544.3_Missense_Mutation_p.E16K	p.E16K	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			3	287	-	Hepatocellular(33;0.183)		16					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.46G>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790652	0.31685	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.38722	1.27;1.38;1.39;1.32;1.28;1.43;1.4;1.43;1.43;1.12	5.32	4.46	0.54185	.	0.198301	0.24993	N	0.033977	T	0.30665	0.0772	N	0.19112	0.55	0.23113	N	0.998273	B;P;P;P;P;P;P;P;P;B;B	0.37500	0.281;0.454;0.454;0.454;0.454;0.597;0.597;0.597;0.454;0.325;0.325	B;B;B;B;B;B;B;B;B;B;B	0.39531	0.04;0.234;0.234;0.234;0.234;0.302;0.302;0.287;0.234;0.118;0.118	T	0.18335	-1.0340	10	0.87932	D	0	.	10.5215	0.44922	0.1934:0.8066:0.0:0.0	.	16;16;16;16;16;16;16;16;16;16;16	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	K	16	ENSP00000369202:E16K;ENSP00000369207:E16K;ENSP00000346845:E16K;ENSP00000369205:E16K;ENSP00000350152:E16K;ENSP00000369198:E16K;ENSP00000353421:E16K;ENSP00000350680:E16K;ENSP00000349015:E16K;ENSP00000344972:E16K	ENSP00000344972:E16K	E	-	1	0	GPR64	18996828	0.994000	0.37717	0.674000	0.29902	0.277000	0.26821	1.624000	0.37018	1.019000	0.39547	-0.178000	0.13098	GAA		0.403	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			11	508	0	0	0	1	0	11	508				
SNAI3	333929	broad.mit.edu	37	16	88747821	88747821	+	Silent	SNP	C	C	T	rs200850230		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88747821C>T	ENST00000332281.5	-	2	464	c.378G>A	c.(376-378)ccG>ccA	p.P126P	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	126					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCCAAGGTCGGGGACCACC	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16415	0.0		0.0	False		,,,				2504	0.0				Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(376-378)ccG>ccA		snail family zinc finger 3							58.0	70.0	66.0					16																	88747821		2198	4299	6497	SO:0001819	synonymous_variant	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88747821C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.378G>A	16.37:g.88747821C>T						SNAI3-AS1_ENST00000563261.1_RNA	p.P126P	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	464	-			126					Q86SU5	Silent	SNP	ENST00000332281.5	37	c.378G>A	CCDS32505.1																																																																																				0.677	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			48	827	0	0	0	1	0	48	827				
SLC9A6	10479	broad.mit.edu	37	X	135095513	135095513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135095513G>A	ENST00000370698.3	+	9	1092	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.V385I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	353					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TATAGGTGTAGTTGCAGTATT	0.363																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1153-1155)Gtt>Att		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							192.0	165.0	174.0					X																	135095513		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135095513G>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1057G>A	X.37:g.135095513G>A	ENSP00000359732:p.Val353Ile					SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.V353I	p.V385I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			9	1188	+	Acute lymphoblastic leukemia(192;0.000127)		353					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1153G>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911918	0.92178	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15139	2.45;2.45;2.45	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.70787	2.145	0.80722	D	1	P;D	0.71674	0.815;0.998	P;D	0.70935	0.551;0.971	T	0.33085	-0.9882	10	0.87932	D	0	.	17.7295	0.88373	0.0:0.0:1.0:0.0	.	385;353	Q92581-2;Q92581	.;SL9A6_HUMAN	I	333;353;385	ENSP00000359735:V333I;ENSP00000359732:V353I;ENSP00000359729:V385I	ENSP00000359729:V385I	V	+	1	0	SLC9A6	134923179	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.423000	0.97461	2.405000	0.81733	0.513000	0.50165	GTT		0.363	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		110	392	0	0	0	1	0	110	392				
AHSP	51327	broad.mit.edu	37	16	31539464	31539464	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31539464G>A	ENST00000302312.4	+	2	107	c.4G>A	c.(4-6)Gct>Act	p.A2T	AHSP_ENST00000569954.1_Intron	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	2					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						CAGGCAGATGGCTCTTCTTAA	0.473																																						ENST00000302312.4																			0				lung(2)	2						c.(4-6)Gct>Act		alpha hemoglobin stabilizing protein							113.0	111.0	112.0					16																	31539464		2197	4300	6497	SO:0001583	missense	51327				hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding	g.chr16:31539464G>A	AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"""alpha hemoglobin stabilising protein"""	605821	"""erythroid associated factor"""	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.4G>A	16.37:g.31539464G>A	ENSP00000307199:p.Ala2Thr					AHSP_ENST00000569954.1_Intron	p.A2T	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN			2	107	+			2					Q8TD01	Missense_Mutation	SNP	ENST00000302312.4	37	c.4G>A	CCDS10716.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092634	0.56075	.	.	ENSG00000169877	ENST00000302312	T	0.66638	-0.22	5.47	3.51	0.40186	.	0.726287	0.12358	N	0.475962	T	0.46405	0.1391	N	0.19112	0.55	0.26815	N	0.968905	P	0.37955	0.612	B	0.30943	0.122	T	0.42292	-0.9460	10	0.87932	D	0	.	7.2893	0.26356	0.1947:0.0:0.8053:0.0	.	2	Q9NZD4	AHSP_HUMAN	T	2	ENSP00000307199:A2T	ENSP00000307199:A2T	A	+	1	0	AHSP	31446965	1.000000	0.71417	0.979000	0.43373	0.098000	0.18820	1.901000	0.39838	1.300000	0.44818	0.557000	0.71058	GCT		0.473	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255624.1	NM_016633		7	411	0	0	0	1	0	7	411				
APBA3	9546	broad.mit.edu	37	19	3753771	3753771	+	Missense_Mutation	SNP	C	C	T	rs368746082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3753771C>T	ENST00000316757.3	-	6	1203	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	AC005954.3_ENST00000591962.1_RNA|AC005954.4_ENST00000586503.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	335	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCTCCGCGTAGAATACG	0.697																																						ENST00000316757.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(1003-1005)Gcg>Acg		amyloid beta (A4) precursor protein-binding, family A, member 3		C	THR/ALA	0,4356		0,0,2178	9.0	9.0	9.0		1003	0.3	0.2	19		9	1,8525		0,1,4262	no	missense	APBA3	NM_004886.3	58	0,1,6440	TT,TC,CC		0.0117,0.0,0.0078	benign	335/576	3753771	1,12881	2178	4263	6441	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3753771C>T	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1003G>A	19.37:g.3753771C>T	ENSP00000315136:p.Ala335Thr						p.A335T	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1203	-		Hepatocellular(1079;0.137)	335			PID.		O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.1003G>A	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	9.751	1.167534	0.21621	0.0	1.17E-4	ENSG00000011132	ENST00000316757	T	0.21932	1.98	3.79	0.307	0.15811	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.376195	0.24806	N	0.035454	T	0.11879	0.0289	N	0.22421	0.69	0.34009	D	0.651232	B	0.02656	0.0	B	0.06405	0.002	T	0.07102	-1.0790	10	0.59425	D	0.04	.	6.2697	0.20947	0.5328:0.3195:0.0:0.1477	.	335	O96018	APBA3_HUMAN	T	335	ENSP00000315136:A335T	ENSP00000315136:A335T	A	-	1	0	APBA3	3704771	1.000000	0.71417	0.168000	0.22838	0.106000	0.19336	3.528000	0.53524	-0.388000	0.07797	-1.516000	0.00938	GCG		0.697	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			11	36	0	0	0	1	0	11	36				
IL18R1	8809	broad.mit.edu	37	2	103013310	103013310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103013310C>T	ENST00000409599.1	+	12	1946	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	IL18R1_ENST00000233957.1_Silent_p.D530D			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	530					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAGGTAGAGACGAACCGGAAG	0.423																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1588-1590)gaC>gaT		interleukin 18 receptor 1							47.0	51.0	50.0					2																	103013310		2203	4300	6503	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103013310C>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1590C>T	2.37:g.103013310C>T						IL18R1_ENST00000233957.1_Silent_p.D530D	p.D530D			Q13478	IL18R_HUMAN			12	1946	+			530					B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.1590C>T	CCDS2060.1																																																																																				0.423	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		15	329	0	0	0	1	0	15	329				
FNDC8	54752	broad.mit.edu	37	17	33454299	33454299	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33454299A>G	ENST00000158009.5	+	2	563	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	150						nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CCAGATGGCCACAAGGGGCCT	0.582																																						ENST00000158009.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11						c.(448-450)Aca>Gca		fibronectin type III domain containing 8							107.0	113.0	111.0					17																	33454299		2203	4300	6503	SO:0001583	missense	54752							g.chr17:33454299A>G	BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.448A>G	17.37:g.33454299A>G	ENSP00000158009:p.Thr150Ala						p.T150A	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)	2	563	+		Ovarian(249;0.17)	150					B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	37	c.448A>G	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	A	1.870	-0.460518	0.04508	.	.	ENSG00000073598	ENST00000158009	T	0.30448	1.53	4.52	1.11	0.20524	.	0.409067	0.21308	N	0.076696	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	1	B	0.21905	0.062	B	0.17098	0.017	T	0.16364	-1.0405	10	0.30078	T	0.28	-2.735	5.5119	0.16886	0.4787:0.4225:0.0:0.0988	.	150	Q8TC99	FNDC8_HUMAN	A	150	ENSP00000158009:T150A	ENSP00000158009:T150A	T	+	1	0	FNDC8	30478412	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.113000	0.15499	0.256000	0.21614	-0.213000	0.12676	ACA		0.582	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		163	851	0	0	0	1	0	163	851				
TEP1	7011	broad.mit.edu	37	14	20841685	20841685	+	Missense_Mutation	SNP	C	C	T	rs146330073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841685C>T	ENST00000262715.5	-	46	6702	c.6662G>A	c.(6661-6663)cGg>cAg	p.R2221Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R2113Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2221					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGCCATAACCGTGTGGCCCC	0.557																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6661-6663)cGg>cAg		telomerase-associated protein 1		C	GLN/ARG	0,4406		0,0,2203	75.0	67.0	70.0		6662	3.4	1.0	14	dbSNP_134	70	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TEP1	NM_007110.4	43	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	2221/2628	20841685	5,13001	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841685C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6662G>A	14.37:g.20841685C>T	ENSP00000262715:p.Arg2221Gln					TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q|TEP1_ENST00000556935.1_Missense_Mutation_p.R2113Q	p.R2221Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	46	6702	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2221					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6662G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305268	0.40795	0.0	5.81E-4	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.61510	1.89;1.89;0.1	5.25	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.411730	0.25307	N	0.031618	T	0.35799	0.0944	N	0.19112	0.55	0.27025	N	0.964372	B;B;B;B	0.31125	0.09;0.309;0.266;0.206	B;B;B;B	0.23852	0.008;0.049;0.027;0.022	T	0.15780	-1.0425	10	0.33940	T	0.23	-14.7572	7.4458	0.27211	0.0:0.7966:0.0:0.2034	.	559;2113;1564;2221	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	2221;2221;2113;559	ENSP00000262715:R2221Q;ENSP00000452574:R2113Q;ENSP00000438849:R559Q	ENSP00000262715:R2221Q	R	-	2	0	TEP1	19911525	0.415000	0.25416	0.993000	0.49108	0.927000	0.56198	0.585000	0.23879	0.593000	0.29745	0.655000	0.94253	CGG		0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		44	189	0	0	0	1	0	44	189				
ZC3H14	79882	broad.mit.edu	37	14	89038501	89038501	+	Silent	SNP	C	C	T	rs376580827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89038501C>T	ENST00000251038.5	+	5	588	c.363C>T	c.(361-363)agC>agT	p.S121S	ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000336693.4_Silent_p.S87S|ZC3H14_ENST00000555755.1_Silent_p.S121S|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000302216.8_Silent_p.S121S|ZC3H14_ENST00000359301.3_Silent_p.S87S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	121						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCATTCCTAGCGCGAGACCTG	0.488																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(361-363)agC>agT		zinc finger CCCH-type containing 14		C	,,,,	0,4406		0,0,2203	104.0	101.0	102.0		363,363,363,363,261	2.8	0.7	14		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZC3H14	NM_001160103.1,NM_001160104.1,NM_024824.4,NM_207660.3,NM_207661.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	121/736,121/731,121/737,121/580,87/572	89038501	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89038501C>T	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.363C>T	14.37:g.89038501C>T						ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000359301.3_Silent_p.S87S|ZC3H14_ENST00000336693.4_Silent_p.S87S|ZC3H14_ENST00000302216.8_Silent_p.S121S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000555755.1_Silent_p.S121S	p.S121S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			5	588	+			121					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.363C>T	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574602	0.03882	0.0	1.16E-4	ENSG00000100722	ENST00000556000	.	.	.	5.66	2.84	0.33178	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52480	-0.8570	4	.	.	.	-1.469	10.1704	0.42906	0.0:0.734:0.0:0.266	.	.	.	.	V	37	.	.	A	+	2	0	ZC3H14	88108254	0.187000	0.23238	0.682000	0.30024	0.019000	0.09904	0.223000	0.17719	0.323000	0.23307	0.563000	0.77884	GCG		0.488	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		83	340	0	0	0	1	0	83	340				
PFKFB1	5207	broad.mit.edu	37	X	54959869	54959869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54959869C>A	ENST00000375006.3	-	14	1453	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	461	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCAGGGCTTCCTCAGGTTCCC	0.542																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(1381-1383)gaG>gaT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							137.0	105.0	116.0					X																	54959869		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54959869C>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1383G>T	X.37:g.54959869C>A	ENSP00000364145:p.Glu461Asp					PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D	p.E461D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			14	1453	-			461			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.1383G>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295089	0.23564	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.28	0.356	0.16074	.	0.161173	0.52532	D	0.000061	T	0.40171	0.1106	L	0.39020	1.185	0.36113	D	0.844969	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.25222	-1.0138	9	0.21540	T	0.41	-4.2766	8.1101	0.30909	0.0:0.5175:0.0:0.4825	.	396;261;461	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	D	461;396;261	.	ENSP00000364131:E261D	E	-	3	2	PFKFB1	54976594	0.335000	0.24748	0.988000	0.46212	0.811000	0.45836	-0.438000	0.06905	-0.027000	0.13873	0.287000	0.19450	GAG		0.542	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			58	174	1	0	1.19403e-26	1	1.3775e-26	58	174				
CPS1	1373	broad.mit.edu	37	2	211533008	211533008	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211533008G>A	ENST00000233072.5	+	34	4297	c.4101G>A	c.(4099-4101)caG>caA	p.Q1367Q	CPS1_ENST00000451903.2_Splice_Site_p.Q916Q|CPS1_ENST00000430249.2_Splice_Site_p.Q1373Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1367					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TAGGCATCCAGGTAAGTGGTT	0.473																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e34+1		carbamoyl-phosphate synthase 1, mitochondrial							90.0	81.0	84.0					2																	211533008		2203	4299	6502	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211533008G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4101+1G>A	2.37:g.211533008G>A						CPS1_ENST00000430249.2_Splice_Site_p.Q1373_splice|CPS1_ENST00000451903.2_Splice_Site_p.Q916_splice	p.Q1367_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	34	4297	+			1367					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	c.4101_splice	CCDS2393.1																																																																																				0.473	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Silent	95	248	0	0	0	1	0	95	248				
ULK3	25989	broad.mit.edu	37	15	75131059	75131059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75131059C>T	ENST00000440863.2	-	10	1118	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ULK3_ENST00000569437.1_Missense_Mutation_p.E343K|ULK3_ENST00000568667.1_Missense_Mutation_p.E354K	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	343	MIT 1.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GCCTTGAGCTCCTCAGCCCGG	0.627																																						ENST00000440863.2																			0				breast(2)	2						c.(1027-1029)Gag>Aag		unc-51 like kinase 3							33.0	36.0	35.0					15																	75131059		1963	4154	6117	SO:0001583	missense	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75131059C>T	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.1027G>A	15.37:g.75131059C>T	ENSP00000400312:p.Glu343Lys					ULK3_ENST00000568667.1_Missense_Mutation_p.E354K|ULK3_ENST00000569437.1_Missense_Mutation_p.E343K	p.E343K	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			10	1118	-			343			MIT 1.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	c.1027G>A	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169665	0.78452	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.70045	-0.45	5.02	4.1	0.47936	MIT (2);	.	.	.	.	T	0.58609	0.2134	N	0.20610	0.595	0.49483	D	0.999794	P;P;P;P	0.46706	0.767;0.854;0.883;0.873	B;P;P;B	0.49140	0.376;0.479;0.601;0.412	T	0.58387	-0.7645	9	0.40728	T	0.16	-15.3133	12.0722	0.53624	0.0:0.9153:0.0:0.0847	.	354;253;343;343	B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;ULK3_HUMAN;.	K	343;354	ENSP00000400312:E343K	ENSP00000393658:E354K	E	-	1	0	ULK3	72918112	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.003000	0.76310	1.103000	0.41568	0.491000	0.48974	GAG		0.627	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		23	77	0	0	0	1	0	23	77				
SMC1B	27127	broad.mit.edu	37	22	45767427	45767427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45767427G>A	ENST00000357450.4	-	14	2236	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	746					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATACATTGAGACTCAATATT	0.289																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2236-2238)tCt>tTt		structural maintenance of chromosomes 1B							94.0	84.0	87.0					22																	45767427		1815	4065	5880	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45767427G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2237C>T	22.37:g.45767427G>A	ENSP00000350036:p.Ser746Phe					SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	p.S746F	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	14	2236	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	746					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2237C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634746	0.67130	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79749	-1.3;-1.14	5.66	5.66	0.87406	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000019	D	0.87569	0.6210	L	0.60455	1.87	0.47994	D	0.999563	P;D;P	0.63880	0.543;0.993;0.92	P;D;P	0.65443	0.719;0.935;0.783	D	0.87998	0.2754	10	0.66056	D	0.02	.	17.5125	0.87764	0.0:0.0:1.0:0.0	.	746;746;746	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	F	746	ENSP00000350036:S746F;ENSP00000385902:S746F	ENSP00000350036:S746F	S	-	2	0	SMC1B	44146091	1.000000	0.71417	0.992000	0.48379	0.522000	0.34438	5.567000	0.67378	2.669000	0.90835	0.655000	0.94253	TCT		0.289	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		41	128	0	0	0	1	0	41	128				
HSPA6	3310	broad.mit.edu	37	1	161494843	161494843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161494843C>T	ENST00000309758.4	+	1	808	c.395C>T	c.(394-396)aCg>aTg	p.T132M	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	132					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATGAAGGAGACGGCCGAGGCG	0.652																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(394-396)aCg>aTg		heat shock 70kDa protein 6 (HSP70B')							18.0	20.0	19.0					1																	161494843		2189	4277	6466	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161494843C>T		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.395C>T	1.37:g.161494843C>T	ENSP00000310219:p.Thr132Met						p.T132M	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	808	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		132					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.395C>T	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	10.02	1.235850	0.22626	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01119	5.31	3.12	0.154	0.14901	.	0.000000	0.40908	U	0.000996	T	0.02193	0.0068	M	0.92507	3.315	0.31186	N	0.701505	D	0.59767	0.986	P	0.55999	0.789	T	0.09707	-1.0662	9	0.87932	D	0	-24.4216	6.6142	0.22769	0.0:0.6496:0.0:0.3504	.	132	P17066	HSP76_HUMAN	M	132;108	ENSP00000310219:T132M	ENSP00000310219:T132M	T	+	2	0	HSPA6	159761467	0.914000	0.31030	0.129000	0.21949	0.160000	0.22226	1.551000	0.36233	-0.194000	0.10399	-0.480000	0.04831	ACG		0.652	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		6	148	0	0	0	1	0	6	148				
PAX8	7849	broad.mit.edu	37	2	114004419	114004419	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114004419C>T	ENST00000429538.3	-	3	297	c.103G>A	c.(103-105)Gta>Ata	p.V35I	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	35	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGTCTACGATGCGCTGG	0.612			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20	GRCh37	CM065372	PAX8	M		c.(103-105)Gta>Ata		paired box 8							45.0	51.0	49.0					2																	114004419		2139	4285	6424	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114004419C>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.103G>A	2.37:g.114004419C>T	ENSP00000395498:p.Val35Ile					AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA	p.V35I	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			3	297	-			35			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.103G>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965967	0.92855	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99483	-5.99;-5.99;-5.99;-5.99;-5.99	5.1	5.1	0.69264	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	L	0.48986	1.54	0.80722	D	1	P;D;D;D;D	0.89917	0.787;1.0;0.993;0.992;0.968	P;D;D;P;P	0.78314	0.613;0.991;0.96;0.566;0.767	D	0.99387	1.0924	10	0.87932	D	0	.	16.0313	0.80579	0.0:1.0:0.0:0.0	.	35;35;35;35;35	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	I	35	ENSP00000263335:V35I;ENSP00000380768:V35I;ENSP00000314750:V35I;ENSP00000395498:V35I;ENSP00000263334:V35I	ENSP00000263334:V35I	V	-	1	0	PAX8	113720889	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	7.763000	0.85283	2.382000	0.81193	0.655000	0.94253	GTA		0.612	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			54	260	0	0	0	1	0	54	260				
KIAA0556	23247	broad.mit.edu	37	16	27642431	27642431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27642431G>A	ENST00000261588.4	+	5	375	c.356G>A	c.(355-357)aGa>aAa	p.R119K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	119						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAAGCCTTAAGACGCAGTTCA	0.552																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(355-357)aGa>aAa		KIAA0556							44.0	35.0	38.0					16																	27642431		2197	4299	6496	SO:0001583	missense	23247							g.chr16:27642431G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.356G>A	16.37:g.27642431G>A	ENSP00000261588:p.Arg119Lys						p.R119K	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			5	375	+			119					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.356G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747245	0.15710	.	.	ENSG00000047578	ENST00000261588	T	0.47528	0.84	4.87	4.87	0.63330	.	0.674959	0.13056	N	0.417256	T	0.41073	0.1143	L	0.55103	1.725	0.25739	N	0.985187	P	0.41450	0.75	B	0.36808	0.233	T	0.32693	-0.9897	10	0.09338	T	0.73	-4.875	14.9347	0.70944	0.0:0.0:1.0:0.0	.	119	O60303	K0556_HUMAN	K	119	ENSP00000261588:R119K	ENSP00000261588:R119K	R	+	2	0	KIAA0556	27549932	0.995000	0.38212	0.288000	0.24862	0.198000	0.23893	5.066000	0.64351	2.241000	0.73720	0.455000	0.32223	AGA		0.552	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		9	22	0	0	0	1	0	9	22				
CCDC12	151903	broad.mit.edu	37	3	46966960	46966960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46966960G>A	ENST00000546280.1	-	3	277	c.230C>T	c.(229-231)gCc>gTc	p.A77V	CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000425441.1_Missense_Mutation_p.A90V|CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	77										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		AACCGGTTTGGCCTGGGGCAC	0.562																																						ENST00000425441.1																			0				endometrium(1)|large_intestine(1)|urinary_tract(1)	3						c.(268-270)gCc>gTc		coiled-coil domain containing 12							153.0	104.0	121.0					3																	46966960		2203	4300	6503	SO:0001583	missense	151903							g.chr3:46966960G>A	BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.230C>T	3.37:g.46966960G>A	ENSP00000441327:p.Ala77Val					CCDC12_ENST00000546280.1_Missense_Mutation_p.A77V|CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V	p.A90V	NM_001277074.1	NP_001264003.1	Q8WUD4	CCD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)	5	494	-		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)	77					Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	37	c.269C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.077400	0.76528	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	L	0.31752	0.955	0.80722	D	1	D;P	0.89917	1.0;0.875	D;P	0.87578	0.998;0.46	T	0.62158	-0.6913	9	0.32370	T	0.25	-2.9651	17.1908	0.86879	0.0:0.0:1.0:0.0	.	77;77	B4DZZ9;Q8WUD4	.;CCD12_HUMAN	V	90;90;77;90	.	ENSP00000292314:A90V	A	-	2	0	CCDC12	46941964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.404000	0.73268	2.724000	0.93272	0.561000	0.74099	GCC		0.562	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144716		18	97	0	0	0	1	0	18	97				
DENND2A	27147	broad.mit.edu	37	7	140302109	140302109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140302109T>C	ENST00000275884.6	-	2	506	c.89A>G	c.(88-90)aAc>aGc	p.N30S	DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S|DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S|DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	30					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGGCAAGGGTTCTGAACACC	0.522																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(88-90)aAc>aGc		DENN/MADD domain containing 2A							124.0	116.0	119.0					7																	140302109		1955	4161	6116	SO:0001583	missense	27147							g.chr7:140302109T>C	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.89A>G	7.37:g.140302109T>C	ENSP00000275884:p.Asn30Ser					DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S|DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S|DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S	p.N30S			Q9ULE3	DEN2A_HUMAN			2	506	-	Melanoma(164;0.00956)		30					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.89A>G	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324022	0.24080	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.91	-2.35	0.06684	.	0.760646	0.11806	N	0.527668	T	0.60958	0.2309	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.007;0.002	T	0.42292	-0.9460	10	0.18276	T	0.48	-8.5843	5.9459	0.19219	0.0:0.2146:0.371:0.4144	.	30;30	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	30	ENSP00000275884:N30S;ENSP00000442245:N30S;ENSP00000419654:N30S;ENSP00000419464:N30S;ENSP00000418844:N30S;ENSP00000418088:N30S	ENSP00000275884:N30S	N	-	2	0	DENND2A	139948578	0.001000	0.12720	0.001000	0.08648	0.146000	0.21551	-0.537000	0.06128	-0.572000	0.06006	0.533000	0.62120	AAC		0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		69	343	0	0	0	1	0	69	343				
NAIF1	203245	broad.mit.edu	37	9	130829277	130829277	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829277A>G	ENST00000373078.4	-	1	323	c.104T>C	c.(103-105)tTc>tCc	p.F35S	SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	35	Required for nuclear localization and apoptosis-inducing activity.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCGGCGTTGAAGTGGTTCAC	0.627																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(103-105)tTc>tCc		nuclear apoptosis inducing factor 1							95.0	96.0	96.0					9																	130829277		2203	4300	6503	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829277A>G	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.104T>C	9.37:g.130829277A>G	ENSP00000362170:p.Phe35Ser						p.F35S	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			1	323	-			35			Required for nuclear localization and apoptosis-inducing activity.		B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.104T>C	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520958	0.85495	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.70385	-0.4886	9	0.22706	T	0.39	-9.5899	14.2657	0.66116	1.0:0.0:0.0:0.0	.	35	Q69YI7	NAIF1_HUMAN	S	35	.	ENSP00000362170:F35S	F	-	2	0	NAIF1	129869098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.622000	0.90953	1.972000	0.57404	0.460000	0.39030	TTC		0.627	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		151	838	0	0	0	1	0	151	838				
ZNF385D	79750	broad.mit.edu	37	3	21467002	21467002	+	Silent	SNP	C	C	T	rs200280562		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21467002C>T	ENST00000281523.2	-	6	1352	c.834G>A	c.(832-834)tcG>tcA	p.S278S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	278						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTGCGTTTCCGAGTTGACGT	0.418																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(832-834)tcG>tcA		zinc finger protein 385D		C		0,4406		0,0,2203	219.0	193.0	202.0		834	-6.7	0.9	3		202	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF385D	NM_024697.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		278/396	21467002	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21467002C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.834G>A	3.37:g.21467002C>T							p.S278S	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			6	1352	-			278						Silent	SNP	ENST00000281523.2	37	c.834G>A	CCDS2636.1																																																																																				0.418	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		10	528	0	0	0	1	0	10	528				
PITPNM1	9600	broad.mit.edu	37	11	67260478	67260478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67260478G>A	ENST00000534749.1	-	22	3586	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	PITPNM1_ENST00000356404.3_Missense_Mutation_p.A1133V|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1133				A -> T (in Ref. 1; CAA67224). {ECO:0000305}.	brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCCAGCGCCGCGTATACAGC	0.642																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(3397-3399)gCg>gTg		phosphatidylinositol transfer protein, membrane-associated 1							94.0	103.0	100.0					11																	67260478		2200	4295	6495	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67260478G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3398C>T	11.37:g.67260478G>A	ENSP00000437286:p.Ala1133Val					PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V|PITPNM1_ENST00000534749.1_Missense_Mutation_p.A1133V	p.A1133V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			23	3623	-			1133	A -> T (in Ref. 1; CAA67224).				A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.3398C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567459	0.28003	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.77750	-1.12;-1.12;-1.12	4.71	2.63	0.31362	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.443249	0.19271	N	0.118403	T	0.67477	0.2897	L	0.50333	1.59	0.18873	N	0.999988	P;P	0.48503	0.911;0.91	B;B	0.35413	0.169;0.202	T	0.63323	-0.6663	10	0.66056	D	0.02	-16.6914	11.7009	0.51571	0.0:0.4955:0.5045:0.0	.	1132;1133	O00562-2;O00562	.;PITM1_HUMAN	V	1133;1132;1133	ENSP00000437286:A1133V;ENSP00000398787:A1132V;ENSP00000348772:A1133V	ENSP00000348772:A1133V	A	-	2	0	PITPNM1	67017054	0.279000	0.24239	0.027000	0.17364	0.105000	0.19272	0.620000	0.24403	1.143000	0.42306	-0.218000	0.12543	GCG		0.642	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		145	883	0	0	0	1	0	145	883				
ITM2B	9445	broad.mit.edu	37	13	48832293	48832293	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48832293A>C	ENST00000378565.5	+	4	688	c.485A>C	c.(484-486)gAt>gCt	p.D162A	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	162	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTTAACCTGGATAAGTGCTAT	0.368																																						ENST00000378565.5																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(484-486)gAt>gCt		integral membrane protein 2B							161.0	147.0	152.0					13																	48832293		2203	4300	6503	SO:0001583	missense	9445				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	g.chr13:48832293A>C	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.485A>C	13.37:g.48832293A>C	ENSP00000367828:p.Asp162Ala					ITM2B_ENST00000378549.5_Intron	p.D162A	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN		GBM - Glioblastoma multiforme(144;1.97e-06)	4	688	+		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	162			BRICHOS.		Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	c.485A>C	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897934	0.91962	.	.	ENSG00000136156	ENST00000378565	T	0.78924	-1.22	5.84	5.84	0.93424	BRICHOS (2);	0.187411	0.56097	D	0.000029	D	0.84243	0.5429	M	0.62723	1.935	0.80722	D	1	P	0.52170	0.951	P	0.58660	0.843	D	0.84274	0.0490	10	0.45353	T	0.12	-7.6342	15.4071	0.74887	1.0:0.0:0.0:0.0	.	162	Q9Y287	ITM2B_HUMAN	A	162	ENSP00000367828:D162A	ENSP00000367828:D162A	D	+	2	0	ITM2B	47730294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.285000	0.65633	2.230000	0.72887	0.528000	0.53228	GAT		0.368	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		66	405	0	0	0	1	0	66	405				
FER1L6	654463	broad.mit.edu	37	8	125072466	125072466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125072466G>A	ENST00000522917.1	+	23	3126	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D974N|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	974						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGAGCCACCAGACATCACCCA	0.572																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2920-2922)Gac>Aac		fer-1-like 6 (C. elegans)							105.0	117.0	113.0					8																	125072466		2195	4296	6491	SO:0001583	missense	654463					integral to membrane		g.chr8:125072466G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2920G>A	8.37:g.125072466G>A	ENSP00000428280:p.Asp974Asn					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D974N	p.D974N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3126	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		974						Missense_Mutation	SNP	ENST00000522917.1	37	c.2920G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537410	0.65085	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82433	-1.61;-1.61	5.65	4.78	0.61160	.	0.062856	0.64402	U	0.000008	D	0.87752	0.6256	M	0.67700	2.07	0.51767	D	0.999935	D	0.65815	0.995	P	0.60949	0.881	D	0.85856	0.1407	10	0.26408	T	0.33	-7.5478	14.0915	0.64993	0.0731:0.0:0.9269:0.0	.	974	Q2WGJ9	FR1L6_HUMAN	N	974	ENSP00000428280:D974N;ENSP00000381982:D974N	ENSP00000381982:D974N	D	+	1	0	FER1L6	125141647	1.000000	0.71417	0.150000	0.22450	0.175000	0.22909	5.110000	0.64622	1.402000	0.46780	0.655000	0.94253	GAC		0.572	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		10	544	0	0	0	1	0	10	544				
MAP3K4	4216	broad.mit.edu	37	6	161505595	161505595	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161505595G>T	ENST00000392142.4	+	7	2466	c.2318G>T	c.(2317-2319)aGc>aTc	p.S773I	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S773I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	773					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACAGGAGAGCTGTGCTGAA	0.408																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2317-2319)aGc>aTc		mitogen-activated protein kinase kinase kinase 4							162.0	146.0	151.0					6																	161505595		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161505595G>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2318G>T	6.37:g.161505595G>T	ENSP00000375986:p.Ser773Ile					MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S773I	p.S773I	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	7	2466	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	773					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2318G>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386766	0.82902	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71341	-0.56;-0.55;-0.55;-0.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.71771	-0.4492	10	0.36615	T	0.2	-20.1432	20.2284	0.98346	0.0:0.0:1.0:0.0	.	773;773;773	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	I	773	ENSP00000355886:S773I;ENSP00000375986:S773I;ENSP00000355887:S773I;ENSP00000297332:S773I	ENSP00000297332:S773I	S	+	2	0	MAP3K4	161425585	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.642000	0.83385	2.785000	0.95823	0.650000	0.86243	AGC		0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			15	352	1	0	7.93312e-07	1	8.20014e-07	15	352				
PLA2R1	22925	broad.mit.edu	37	2	160825793	160825793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160825793C>T	ENST00000283243.7	-	19	2944	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	913	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAAGCCACATCTCTGGCTCTG	0.363																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2737-2739)aGa>aAa		phospholipase A2 receptor 1, 180kDa							116.0	111.0	113.0					2																	160825793		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160825793C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2738G>A	2.37:g.160825793C>T	ENSP00000283243:p.Arg913Lys					PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			19	2944	-			913			C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2738G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735320	0.48939	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.17370	2.28;2.28	5.8	4.91	0.64330	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.114213	0.64402	D	0.000014	T	0.12347	0.0300	L	0.43757	1.38	0.30810	N	0.738909	B;B;B	0.24618	0.037;0.107;0.051	B;B;B	0.27608	0.038;0.028;0.081	T	0.23084	-1.0198	10	0.05525	T	0.97	.	8.1578	0.31180	0.0:0.7566:0.1605:0.083	.	913;913;913	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	K	913	ENSP00000283243:R913K;ENSP00000376524:R913K	ENSP00000283243:R913K	R	-	2	0	PLA2R1	160534039	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.503000	0.35715	1.415000	0.47037	0.650000	0.86243	AGA		0.363	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			21	273	0	0	0	1	0	21	273				
GTF3C3	9330	broad.mit.edu	37	2	197654005	197654005	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197654005A>G	ENST00000263956.3	-	6	905	c.816T>C	c.(814-816)gaT>gaC	p.D272D	GTF3C3_ENST00000409364.3_Silent_p.D272D|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	272					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCCTATAACCATCCATGGCCA	0.398																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(814-816)gaT>gaC		general transcription factor IIIC, polypeptide 3, 102kDa							118.0	107.0	111.0					2																	197654005		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197654005A>G	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.816T>C	2.37:g.197654005A>G						GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Silent_p.D272D	p.D272D	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			6	905	-			272					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.816T>C	CCDS2316.1																																																																																				0.398	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			89	231	0	0	0	1	0	89	231				
IMPG1	3617	broad.mit.edu	37	6	76744474	76744474	+	Missense_Mutation	SNP	C	C	T	rs200194885		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76744474C>T	ENST00000369950.3	-	3	521	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	IMPG1_ENST00000369963.3_Missense_Mutation_p.R33Q	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.R111Q(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)				CAGAAAGATCCGATATGCTTC	0.488																																					Pancreas(37;839 1141 2599 26037)	ENST00000369963.3																			1	Substitution - Missense(1)	p.R111Q(1)	large_intestine(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						c.(97-99)cGg>cAg		interphotoreceptor matrix proteoglycan 1							92.0	83.0	86.0					6																	76744474		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744474C>T	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.332G>A	6.37:g.76744474C>T	ENSP00000358966:p.Arg111Gln					IMPG1_ENST00000369950.3_Missense_Mutation_p.R111Q	p.R33Q			Q17R60	IMPG1_HUMAN			2	287	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	111						Missense_Mutation	SNP	ENST00000369950.3	37	c.98G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711068	0.96821	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.81163	-1.34;-1.46	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	D	0.89382	0.6699	M	0.80982	2.52	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	D	0.88377	0.2999	9	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	111	Q17R60	IMPG1_HUMAN	Q	111;33	ENSP00000358966:R111Q;ENSP00000358980:R33Q	.	R	-	2	0	IMPG1	76801194	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.076000	0.50081	2.720000	0.93068	0.557000	0.71058	CGG		0.488	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		57	269	0	0	0	1	0	57	269				
TMEM171	134285	broad.mit.edu	37	5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(382-384)Gtc>Atc		transmembrane protein 171							125.0	128.0	127.0					5																	72419582		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419582G>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.382G>A	5.37:g.72419582G>A	ENSP00000415030:p.Val128Ile					TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I	p.V128I			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	855	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	128					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.382G>A	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	6.690	0.495841	0.12762	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.20598	2.06;2.06	5.34	-0.15	0.13416	.	0.544274	0.17336	N	0.177912	T	0.08980	0.0222	N	0.08118	0	0.26141	N	0.980273	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.37663	-0.9696	10	0.12766	T	0.61	-2.5931	11.1458	0.48430	0.381:0.0:0.619:0.0	.	128;128	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	I	128	ENSP00000415030:V128I;ENSP00000287773:V128I	ENSP00000287773:V128I	V	+	1	0	TMEM171	72455338	0.001000	0.12720	0.681000	0.30009	0.911000	0.54048	-0.538000	0.06120	-0.008000	0.14320	0.455000	0.32223	GTC		0.587	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		113	553	0	0	0	1	0	113	553				
IQGAP3	128239	broad.mit.edu	37	1	156499988	156499988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156499988C>T	ENST00000361170.2	-	34	4323	c.4313G>A	c.(4312-4314)cGg>cAg	p.R1438Q	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1438					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGACGCGCCGCTGCTTCTC	0.642																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4312-4314)cGg>cAg		IQ motif containing GTPase activating protein 3							52.0	47.0	49.0					1																	156499988		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156499988C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4313G>A	1.37:g.156499988C>T	ENSP00000354451:p.Arg1438Gln						p.R1438Q	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			34	4323	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1438					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4313G>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033213	0.35893	.	.	ENSG00000183856	ENST00000361170	T	0.45276	0.9	4.5	0.432	0.16529	RasGAP protein, C-terminal (1);	0.204155	0.40554	N	0.001067	T	0.12902	0.0313	L	0.41710	1.295	0.32173	N	0.581325	B	0.23377	0.084	B	0.15052	0.012	T	0.11227	-1.0596	10	0.34782	T	0.22	-8.4963	8.3785	0.32457	0.0:0.6506:0.0:0.3494	.	1438	Q86VI3	IQGA3_HUMAN	Q	1438	ENSP00000354451:R1438Q	ENSP00000354451:R1438Q	R	-	2	0	IQGAP3	154766612	0.000000	0.05858	0.014000	0.15608	0.441000	0.31987	0.238000	0.18004	-0.076000	0.12775	-0.258000	0.10820	CGG		0.642	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		29	95	0	0	0	1	0	29	95				
FGFR3	2261	broad.mit.edu	37	4	1808341	1808341	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1808341T>C	ENST00000260795.2	+	15	2201	c.2099T>C	c.(2098-2100)gTg>gCg	p.V700A	FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A|FGFR3_ENST00000340107.4_Missense_Mutation_p.V702A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A|FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCATCCCTGTGGAGGAGCTC	0.647		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2104-2106)gTg>gCg		fibroblast growth factor receptor 3	Palifermin(DB00039)						37.0	38.0	38.0					4																	1808341		2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808341T>C	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2099T>C	4.37:g.1808341T>C	ENSP00000260795:p.Val700Ala					FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A|FGFR3_ENST00000260795.2_Missense_Mutation_p.V700A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A	p.V702A	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		16	2361	+		Breast(71;0.212)|all_epithelial(65;0.241)	700			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.2105T>C	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.786755	0.70337	.	.	ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78078	0.4227	N	0.04245	-0.25	0.80722	D	1	B;D;B	0.69078	0.206;0.997;0.321	P;D;P	0.80764	0.543;0.994;0.621	D	0.83890	0.0284	9	0.87932	D	0	.	14.0827	0.64934	0.0:0.0:0.0:1.0	.	702;588;700	P22607-2;P22607-3;P22607	.;.;FGFR3_HUMAN	A	702;700;588;700;588	ENSP00000339824:V702A;ENSP00000414914:V700A;ENSP00000412903:V588A;ENSP00000260795:V700A;ENSP00000231803:V588A	ENSP00000260795:V700A	V	+	2	0	FGFR3	1778139	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	7.703000	0.84585	1.790000	0.52503	0.459000	0.35465	GTG		0.647	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		50	174	0	0	0	1	0	50	174				
MCC	4163	broad.mit.edu	37	5	112399705	112399705	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112399705C>A	ENST00000302475.4	-	12	2182	c.1619G>T	c.(1618-1620)aGc>aTc	p.S540I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.S477I|MCC_ENST00000408903.3_Missense_Mutation_p.S730I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	540					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGAAAGGCTCTCCCAGGG	0.617																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1618-1620)aGc>aTc		mutated in colorectal cancers							52.0	51.0	52.0					5																	112399705		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112399705C>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1619G>T	5.37:g.112399705C>A	ENSP00000305617:p.Ser540Ile					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.S730I|MCC_ENST00000515367.2_Missense_Mutation_p.S477I	p.S540I	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	12	2182	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	540					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1619G>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186537	0.78789	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.37752	2.34;2.34;1.18	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.99	D;D;D	0.80764	0.962;0.994;0.944	T	0.47368	-0.9123	10	0.46703	T	0.11	-22.4174	19.638	0.95744	0.0:1.0:0.0:0.0	.	540;730;540	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	I	540;477;730	ENSP00000305617:S540I;ENSP00000421615:S477I;ENSP00000386227:S730I	ENSP00000305617:S540I	S	-	2	0	MCC	112427604	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.147000	0.71783	2.626000	0.88956	0.655000	0.94253	AGC		0.617	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		86	350	1	0	2.10502e-31	1	2.47866e-31	86	350				
CILP2	148113	broad.mit.edu	37	19	19650526	19650526	+	Missense_Mutation	SNP	G	G	A	rs142743091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19650526G>A	ENST00000291495.5	+	2	188	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CILP2_ENST00000586018.1_Missense_Mutation_p.G35S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	35						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GACTGCACTGGGCCTGGAAAG	0.667																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(103-105)Ggc>Agc		cartilage intermediate layer protein 2		G	SER/GLY	0,4406		0,0,2203	91.0	91.0	91.0		103	3.2	0.9	19	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	CILP2	NM_153221.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	35/1157	19650526	1,13005	2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19650526G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.103G>A	19.37:g.19650526G>A	ENSP00000291495:p.Gly35Ser					CILP2_ENST00000291495.4_Missense_Mutation_p.G35S	p.G35S			Q8IUL8	CILP2_HUMAN			2	205	+			35					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.103G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958261	0.53400	0.0	1.16E-4	ENSG00000160161	ENST00000291495	T	0.52983	0.64	3.24	3.24	0.37175	.	0.140569	0.32218	N	0.006416	T	0.26085	0.0636	N	0.14661	0.345	0.37661	D	0.922776	B;B	0.19331	0.012;0.035	B;B	0.11329	0.006;0.006	T	0.13335	-1.0513	10	0.13853	T	0.58	-1.0353	10.2898	0.43588	0.0:0.0:1.0:0.0	.	35;35	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	35	ENSP00000291495:G35S	ENSP00000291495:G35S	G	+	1	0	CILP2	19511526	0.993000	0.37304	0.903000	0.35520	0.157000	0.22087	2.425000	0.44723	2.133000	0.65898	0.456000	0.33151	GGC		0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		23	838	0	0	0	1	0	23	838				
CRYAA	1409	broad.mit.edu	37	21	44589368	44589368	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44589368C>T	ENST00000291554.2	+	1	251	c.159C>T	c.(157-159)ttC>ttT	p.F53F	CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	53					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGTCCCTCTTCCGCACCGTGC	0.637																																						ENST00000291554.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(157-159)ttC>ttT		crystallin, alpha A							135.0	124.0	127.0					21																	44589368		2203	4300	6503	SO:0001819	synonymous_variant	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44589368C>T		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.159C>T	21.37:g.44589368C>T						CRYAA_ENST00000482775.1_3'UTR	p.F53F	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN			1	251	+			53					Q53X53	Silent	SNP	ENST00000291554.2	37	c.159C>T	CCDS13695.1																																																																																				0.637	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			70	641	0	0	0	1	0	70	641				
ERBB4	2066	broad.mit.edu	37	2	212285171	212285171	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285171T>C	ENST00000342788.4	-	25	3440	c.3130A>G	c.(3130-3132)Aat>Gat	p.N1044D	ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D|ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1044					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTTACCCTATTCGAGTCAATT	0.343										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3130-3132)Aat>Gat		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							63.0	60.0	61.0					2																	212285171		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212285171T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3130A>G	2.37:g.212285171T>C	ENSP00000342235:p.Asn1044Asp	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D	p.N1044D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	25	3440	-		Renal(323;0.06)|Lung NSC(271;0.197)	1044					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3130A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176860	0.57692	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74737	-0.87;-0.87;-0.87	5.88	5.88	0.94601	.	0.047923	0.85682	D	0.000000	T	0.61098	0.2320	N	0.08118	0	0.58432	D	0.999992	P;B;P;P	0.41848	0.763;0.03;0.763;0.651	B;B;B;B	0.42361	0.385;0.049;0.385;0.214	T	0.66460	-0.5918	10	0.42905	T	0.14	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	1034;1034;1044;1044	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	1044;1044;1034	ENSP00000342235:N1044D;ENSP00000403204:N1044D;ENSP00000385565:N1034D	ENSP00000342235:N1044D	N	-	1	0	ERBB4	211993416	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.668000	0.83897	2.243000	0.73865	0.533000	0.62120	AAT		0.343	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		36	114	0	0	0	1	0	36	114				
ADAMTSL3	57188	broad.mit.edu	37	15	84539609	84539609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84539609C>T	ENST00000286744.5	+	9	1082	c.858C>T	c.(856-858)ccC>ccT	p.P286P	ADAMTSL3_ENST00000567476.1_Silent_p.P286P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	286						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTAACAGCCCCGGCGTCTTTC	0.378																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(856-858)ccC>ccT		ADAMTS-like 3							56.0	62.0	60.0					15																	84539609		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84539609C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.858C>T	15.37:g.84539609C>T						ADAMTSL3_ENST00000567476.1_Silent_p.P286P	p.P286P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1082	+			286					A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.858C>T	CCDS10326.1																																																																																				0.378	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		66	253	0	0	0	1	0	66	253				
RPH3AL	9501	broad.mit.edu	37	17	63652	63652	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63652G>A	ENST00000331302.7	-	10	1246	c.939C>T	c.(937-939)tgC>tgT	p.C313C	RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Silent_p.C284C|RPH3AL_ENST00000323434.8_Silent_p.C284C	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	313					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCAGCCCAGGCAGCTGGAGG	0.632																																						ENST00000323434.8																			0				NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6						c.(850-852)tgC>tgT		rabphilin 3A-like (without C2 domains)							21.0	26.0	24.0					17																	63652		2203	4299	6502	SO:0001819	synonymous_variant	9501				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	g.chr17:63652G>A		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.939C>T	17.37:g.63652G>A						RPH3AL_ENST00000536489.2_Silent_p.C284C|RPH3AL_ENST00000331302.7_Silent_p.C313C	p.C284C	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)	9	1449	-			313					D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	c.852C>T	CCDS10994.1																																																																																				0.632	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		26	156	0	0	0	1	0	26	156				
GPC5	2262	broad.mit.edu	37	13	92101141	92101141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:92101141A>C	ENST00000377067.3	+	2	662	c.290A>C	c.(289-291)aAg>aCg	p.K97T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	97					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTACATTAAAGTTTCTAATA	0.423																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(289-291)aAg>aCg		glypican 5							115.0	106.0	109.0					13																	92101141		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101141A>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.290A>C	13.37:g.92101141A>C	ENSP00000366267:p.Lys97Thr						p.K97T	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			2	662	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	97					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.290A>C	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505070	0.85282	.	.	ENSG00000179399	ENST00000377067	T	0.53640	0.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.77103	2.36	0.44055	D	0.996794	D	0.76494	0.999	D	0.76575	0.988	T	0.73933	-0.3826	10	0.87932	D	0	.	14.8025	0.69926	1.0:0.0:0.0:0.0	.	97	P78333	GPC5_HUMAN	T	97	ENSP00000366267:K97T	ENSP00000366267:K97T	K	+	2	0	GPC5	90899142	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	8.887000	0.92456	2.086000	0.62901	0.383000	0.25322	AAG		0.423	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		72	321	0	0	0	1	0	72	321				
TIMM44	10469	broad.mit.edu	37	19	8003069	8003069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8003069G>A	ENST00000270538.3	-	3	423	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	52					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTTTCCAGAAGAATATGATTT	0.323																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(154-156)tCt>tTt		translocase of inner mitochondrial membrane 44 homolog (yeast)							60.0	58.0	59.0					19																	8003069		2201	4300	6501	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:8003069G>A	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.155C>T	19.37:g.8003069G>A	ENSP00000270538:p.Ser52Phe						p.S52F	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			3	423	-			52					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.155C>T	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299061	0.81025	.	.	ENSG00000104980	ENST00000270538	T	0.79845	-1.31	5.38	5.38	0.77491	.	0.063727	0.64402	D	0.000003	D	0.89121	0.6625	M	0.83953	2.67	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	D	0.89739	0.3932	10	0.51188	T	0.08	-10.6985	16.6135	0.84900	0.0:0.0:1.0:0.0	.	52	O43615	TIM44_HUMAN	F	52	ENSP00000270538:S52F	ENSP00000270538:S52F	S	-	2	0	TIMM44	7909069	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.356000	0.90085	2.531000	0.85337	0.650000	0.86243	TCT		0.323	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			55	267	0	0	0	1	0	55	267				
HFM1	164045	broad.mit.edu	37	1	91841173	91841173	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91841173T>C	ENST00000370425.3	-	12	1605	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D	HFM1_ENST00000370424.3_Missense_Mutation_p.N182D|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	503					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTTTGGTTACTACTGCAG	0.408																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1507-1509)Aac>Gac		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							134.0	126.0	129.0					1																	91841173		1858	4095	5953	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91841173T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1507A>G	1.37:g.91841173T>C	ENSP00000359454:p.Asn503Asp					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.N182D	p.N503D	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	12	1605	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	503					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1507A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822869	0.32237	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.91237	-0.53;-2.81	5.4	4.2	0.49525	.	0.000000	0.48767	U	0.000167	T	0.80752	0.4683	M	0.73962	2.25	0.80722	D	1	P;P	0.44627	0.839;0.704	B;B	0.33521	0.118;0.165	T	0.80730	-0.1252	10	0.13853	T	0.58	.	12.0484	0.53493	0.0:0.0:0.1439:0.856	.	182;503	A6NGI5;A2PYH4	.;HFM1_HUMAN	D	503;182;187;536	ENSP00000359454:N503D;ENSP00000359453:N182D	ENSP00000359450:N187D	N	-	1	0	HFM1	91613761	1.000000	0.71417	0.953000	0.39169	0.238000	0.25445	5.046000	0.64226	2.057000	0.61298	0.460000	0.39030	AAC		0.408	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		124	368	0	0	0	1	0	124	368				
MAS1L	116511	broad.mit.edu	37	6	29454915	29454915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29454915C>A	ENST00000377127.3	-	1	823	c.765G>T	c.(763-765)caG>caT	p.Q255H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	255					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCTTTTGCTGCTGGGAGCAGC	0.522																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(763-765)caG>caT		MAS1 oncogene-like							37.0	39.0	38.0					6																	29454915		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454915C>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.765G>T	6.37:g.29454915C>A	ENSP00000366331:p.Gln255His						p.Q255H	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	823	-			255					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.765G>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716025	0.15306	.	.	ENSG00000204687	ENST00000377127	T	0.37411	1.2	2.23	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	B	0.29188	0.236	B	0.36989	0.238	T	0.32877	-0.9890	9	0.23302	T	0.38	.	10.2658	0.43453	0.0:1.0:0.0:0.0	.	255	P35410	MAS1L_HUMAN	H	255	ENSP00000366331:Q255H	ENSP00000366331:Q255H	Q	-	3	2	MAS1L	29562894	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.708000	0.25719	1.291000	0.44653	0.498000	0.49722	CAG		0.522	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		52	192	1	0	1.63038e-21	1	1.83746e-21	52	192				
FCGR3A	2214	broad.mit.edu	37	1	161596176	161596176	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161596176C>A	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.Q112H|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.Q148H|FCGR3B_ENST00000367964.2_Missense_Mutation_p.Q112H			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCGAGGGGCCTGGAGCAACA	0.562																																						ENST00000294800.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18						c.(334-336)caG>caT		Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						37.0	40.0	39.0					1																	161596176		2191	4299	6490	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161596176C>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+3981G>T	1.37:g.161596176C>A						FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.Q112H|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.Q148H	p.Q112H	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	609	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		112					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.336G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	19.28|19.28	3.797116|3.797116	0.70567|0.70567	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000421702|ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	.|T;T;T;T	.|0.13538	.|2.58;2.58;2.58;3.61	2.47|2.47	2.47|2.47	0.30058|0.30058	.|Immunoglobulin-like fold (1);	.|0.000000	.|0.49305	.|D	.|0.000149	T|T	0.31389|0.31389	0.0795|0.0795	M|M	0.93550|0.93550	3.43|3.43	0.31755|0.31755	N|N	0.634041|0.634041	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.87932	.|D	.|0	.|.	8.4977|8.4977	0.33138|0.33138	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|112	.|O75015	.|FCG3B_HUMAN	C|H	133|112;112;148;95	.|ENSP00000356941:Q112H;ENSP00000294800:Q112H;ENSP00000433642:Q148H;ENSP00000437084:Q95H	.|ENSP00000294800:Q112H	G|Q	-|-	1|3	0|2	FCGR3B|FCGR3B	159862800|159862800	0.274000|0.274000	0.24191|0.24191	0.635000|0.635000	0.29338|0.29338	0.845000|0.845000	0.48019|0.48019	0.374000|0.374000	0.20501|0.20501	1.383000|1.383000	0.46405|0.46405	0.393000|0.393000	0.25936|0.25936	GGC|CAG		0.562	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		31	141	1	0	7.11191e-15	1	7.74586e-15	31	141				
BACH2	60468	broad.mit.edu	37	6	90647962	90647962	+	Silent	SNP	A	A	G	rs151085282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90647962A>G	ENST00000257749.4	-	8	2651	c.1944T>C	c.(1942-1944)caT>caC	p.H648H	BACH2_ENST00000537989.1_Silent_p.H648H|BACH2_ENST00000343122.3_Silent_p.H648H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	648	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCGGACATCATGAATAAACT	0.443																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1942-1944)caT>caC		BTB and CNC homology 1, basic leucine zipper transcription factor 2		A	,	0,4406		0,0,2203	120.0	115.0	117.0		1944,1944	-0.6	1.0	6	dbSNP_134	117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BACH2	NM_001170794.1,NM_021813.2	,	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	,	648/842,648/842	90647962	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90647962A>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1944T>C	6.37:g.90647962A>G						BACH2_ENST00000343122.3_Silent_p.H648H|BACH2_ENST00000537989.1_Silent_p.H648H	p.H648H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	8	2651	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	648					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.1944T>C	CCDS5026.1																																																																																				0.443	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		97	384	0	0	0	1	0	97	384				
METTL2A	339175	broad.mit.edu	37	17	60518112	60518112	+	Silent	SNP	A	A	G	rs191922122	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60518112A>G	ENST00000311506.5	+	6	840	c.804A>G	c.(802-804)ccA>ccG	p.P268P		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	268					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CAATTGTTCCAGACAAGTAAG	0.433													A|||	2	0.000399361	0.0008	0.0	5008	,	,		21599	0.001		0.0	False		,,,				2504	0.0					ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(802-804)ccA>ccG		methyltransferase like 2A							232.0	226.0	228.0					17																	60518112		2203	4300	6503	SO:0001819	synonymous_variant	339175						methyltransferase activity	g.chr17:60518112A>G	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.804A>G	17.37:g.60518112A>G							p.P268P	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		6	840	+			268					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	37	c.804A>G	CCDS45752.1																																																																																				0.433	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		136	632	0	0	0	1	0	136	632				
SLITRK1	114798	broad.mit.edu	37	13	84455008	84455008	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84455008T>G	ENST00000377084.2	-	1	1520	c.635A>C	c.(634-636)aAc>aCc	p.N212T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	212	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCCCAAGGGTTATCCTCTAG	0.562																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(634-636)aAc>aCc		SLIT and NTRK-like family, member 1							70.0	68.0	69.0					13																	84455008		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455008T>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.635A>C	13.37:g.84455008T>G	ENSP00000366288:p.Asn212Thr						p.N212T	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1520	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	212			LRRCT 1.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.635A>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981595	0.53827	.	.	ENSG00000178235	ENST00000377084	T	0.65732	-0.17	4.72	4.72	0.59763	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	H	0.98218	4.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90728	0.4640	10	0.87932	D	0	-14.4397	13.1692	0.59589	0.0:0.0:0.0:1.0	.	212	Q96PX8	SLIK1_HUMAN	T	212	ENSP00000366288:N212T	ENSP00000366288:N212T	N	-	2	0	SLITRK1	83353009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	1.992000	0.58205	0.459000	0.35465	AAC		0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		23	261	0	0	0	1	0	23	261				
IPO4	79711	broad.mit.edu	37	14	24652349	24652349	+	Missense_Mutation	SNP	C	C	T	rs372694223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24652349C>T	ENST00000354464.6	-	23	2430	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	752					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TAGGATGGCACGACTCGGGCC	0.662																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2254-2256)Gtg>Atg		importin 4		C	MET/VAL	0,4208		0,0,2104	43.0	50.0	47.0		2254	-1.4	0.9	14		47	2,8470		0,2,4234	no	missense	IPO4	NM_024658.3	21	0,2,6338	TT,TC,CC		0.0236,0.0,0.0158	benign	752/1082	24652349	2,12678	2104	4236	6340	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24652349C>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2254G>A	14.37:g.24652349C>T	ENSP00000346453:p.Val752Met					RP11-468E2.2_ENST00000561419.1_3'UTR	p.V752M	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	23	2430	-			752					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.2254G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260088	0.23051	0.0	2.36E-4	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.67171	-0.25	5.89	-1.42	0.08913	Armadillo-like helical (1);Armadillo-type fold (2);	0.788870	0.11743	N	0.533853	T	0.37598	0.1009	N	0.08118	0	0.30553	N	0.765211	B;B	0.19445	0.011;0.036	B;B	0.15870	0.006;0.014	T	0.25676	-1.0125	10	0.23891	T	0.37	-2.0618	4.6873	0.12764	0.0:0.2166:0.314:0.4694	.	752;752	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	M	752;428	ENSP00000346453:V752M	ENSP00000346453:V752M	V	-	1	0	IPO4	23722189	0.007000	0.16637	0.862000	0.33874	0.765000	0.43378	-1.611000	0.02062	-0.090000	0.12462	0.655000	0.94253	GTG		0.662	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		70	366	0	0	0	1	0	70	366				
RBM47	54502	broad.mit.edu	37	4	40440380	40440380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440380G>A	ENST00000381793.2	-	3	927	c.531C>T	c.(529-531)ggC>ggT	p.G177G	RBM47_ENST00000514014.1_Silent_p.G139G|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000319592.4_Silent_p.G177G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.G177G			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	177	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTCCAGCACGCCCTCGGTGA	0.632																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(529-531)ggC>ggT		RNA binding motif protein 47							71.0	63.0	66.0					4																	40440380		2203	4299	6502	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440380G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.531C>T	4.37:g.40440380G>A						RBM47_ENST00000381793.2_Silent_p.G177G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000381795.6_Silent_p.G177G|RBM47_ENST00000514014.1_Silent_p.G139G	p.G177G			A0AV96	RBM47_HUMAN			4	1240	-			177			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.531C>T	CCDS43223.1																																																																																				0.632	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		34	633	0	0	0	1	0	34	633				
NXPH1	30010	broad.mit.edu	37	7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	202	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433																																						ENST00000405863.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(604-606)Gac>Aac		neurexophilin 1							58.0	54.0	55.0					7																	8791187		1879	4109	5988	SO:0001583	missense	30010					extracellular region		g.chr7:8791187G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.604G>A	7.37:g.8791187G>A	ENSP00000384551:p.Asp202Asn					NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N	p.D202N	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1515	+		Ovarian(82;0.0628)	202			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.604G>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821158	0.71028	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.043023	0.85682	D	0.000000	T	0.64605	0.2613	L	0.46157	1.445	0.80722	D	1	B	0.17667	0.023	B	0.27262	0.078	T	0.57046	-0.7878	9	0.18276	T	0.48	-15.4457	20.6208	0.99490	0.0:0.0:1.0:0.0	.	202	P58417	NXPH1_HUMAN	N	202;85	.	ENSP00000384551:D202N	D	+	1	0	NXPH1	8757712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GAC		0.433	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		34	101	0	0	0	1	0	34	101				
MUC16	94025	broad.mit.edu	37	19	9085462	9085462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085462G>A	ENST00000397910.4	-	1	6556	c.6353C>T	c.(6352-6354)gCg>gTg	p.A2118V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAAGTACTCGCGGCTGTATT	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6352-6354)gCg>gTg		mucin 16, cell surface associated							129.0	126.0	127.0					19																	9085462		1925	4126	6051	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085462G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6353C>T	19.37:g.9085462G>A	ENSP00000381008:p.Ala2118Val						p.A2118V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6556	-			2118			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6353C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.343569	0.01277	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.49303	-0.8954	7	0.87932	D	0	.	.	.	.	.	2118	B5ME49	.	V	2118	ENSP00000381008:A2118V	ENSP00000381008:A2118V	A	-	2	0	MUC16	8946462	0.005000	0.15991	0.008000	0.14137	0.008000	0.06430	-0.606000	0.05654	-1.808000	0.01234	-1.786000	0.00637	GCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		135	657	0	0	0	1	0	135	657				
RELN	5649	broad.mit.edu	37	7	103138291	103138291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138291G>A	ENST00000428762.1	-	55	9085	c.8926C>T	c.(8926-8928)Ctg>Ttg	p.L2976L	RELN_ENST00000343529.5_Silent_p.L2976L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.L2976L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2976					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGTCCAACAGCACGCCTTCC	0.527																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8926-8928)Ctg>Ttg		reelin							114.0	89.0	97.0					7																	103138291		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138291G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8926C>T	7.37:g.103138291G>A						CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.L2976L|RELN_ENST00000424685.2_Silent_p.L2976L	p.L2976L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	55	9085	-			2976					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.8926C>T	CCDS47680.1																																																																																				0.527	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		31	201	0	0	0	1	0	31	201				
CCDC15	80071	broad.mit.edu	37	11	124845009	124845009	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124845009A>C	ENST00000344762.5	+	5	793	c.534A>C	c.(532-534)aaA>aaC	p.K178N	CCDC15_ENST00000529051.1_Missense_Mutation_p.K178N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	178						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAACTATGAAACAGGCACGTC	0.408																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(532-534)aaA>aaC		coiled-coil domain containing 15							54.0	49.0	50.0					11																	124845009		1840	4097	5937	SO:0001583	missense	80071					centrosome		g.chr11:124845009A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.534A>C	11.37:g.124845009A>C	ENSP00000341684:p.Lys178Asn					CCDC15_ENST00000344762.5_Missense_Mutation_p.K178N	p.K178N			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	5	793	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	178					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.534A>C	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257472	0.59321	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.43294	0.96;0.95	5.49	-0.499	0.12015	.	0.146210	0.44097	D	0.000494	T	0.56337	0.1978	M	0.71581	2.175	0.23855	N	0.996653	D	0.76494	0.999	D	0.79784	0.993	T	0.48811	-0.9002	10	0.72032	D	0.01	-11.9158	8.8787	0.35360	0.5446:0.0:0.4554:0.0	.	178	Q0P6D6	CCD15_HUMAN	N	178	ENSP00000435403:K178N;ENSP00000341684:K178N	ENSP00000341684:K178N	K	+	3	2	CCDC15	124350219	0.993000	0.37304	0.993000	0.49108	0.690000	0.40134	0.110000	0.15437	-0.008000	0.14320	0.528000	0.53228	AAA		0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		14	75	0	0	0	1	0	14	75				
NOTCH1	4851	broad.mit.edu	37	9	139391776	139391776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391776G>A	ENST00000277541.6	-	34	6490	c.6415C>T	c.(6415-6417)Ctc>Ttc	p.L2139F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2139					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)		GGCGAGCAGAGCGGGGGCGAC	0.692			"""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.(6415-6417)Ctc>Ttc		notch 1							20.0	24.0	22.0					9																	139391776		2079	4173	6252	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.chr9:139391776G>A	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.6415C>T	9.37:g.139391776G>A	ENSP00000277541:p.Leu2139Phe	HNSCC(8;0.001)					p.L2139F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6490	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2139					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6415C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468738	0.63625	.	.	ENSG00000148400	ENST00000277541	D	0.83075	-1.68	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.76574	2.34	0.80722	D	1	D	0.62365	0.991	P	0.59595	0.86	D	0.88716	0.3226	10	0.41790	T	0.15	.	18.5525	0.91071	0.0:0.0:1.0:0.0	.	2139	P46531	NOTC1_HUMAN	F	2139	ENSP00000277541:L2139F	ENSP00000277541:L2139F	L	-	1	0	NOTCH1	138511597	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	6.280000	0.72626	2.703000	0.92315	0.561000	0.74099	CTC		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	256	0	0	0	1	0	11	256				
GJA8	2703	broad.mit.edu	37	1	147380546	147380546	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380546T>C	ENST00000369235.1	+	1	464	c.464T>C	c.(463-465)aTc>aCc	p.I155T	GJA8_ENST00000240986.4_Missense_Mutation_p.I155T			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	155					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ATCTGCCACATCATCTTCAAG	0.617																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(463-465)aTc>aCc		gap junction protein, alpha 8, 50kDa							113.0	113.0	113.0					1																	147380546		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380546T>C	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.464T>C	1.37:g.147380546T>C	ENSP00000358238:p.Ile155Thr					GJA8_ENST00000369235.1_Missense_Mutation_p.I155T	p.I155T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	517	+	all_hematologic(923;0.0276)		155					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.464T>C	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	t	19.21	3.783079	0.70222	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.98192	-4.78;-4.78	5.06	5.06	0.68205	.	0.053149	0.64402	D	0.000001	D	0.98563	0.9520	M	0.78456	2.415	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	D	0.99819	1.1046	10	0.87932	D	0	.	14.7852	0.69796	0.0:0.0:0.0:1.0	.	155	P48165	CXA8_HUMAN	T	155	ENSP00000240986:I155T;ENSP00000358238:I155T	ENSP00000240986:I155T	I	+	2	0	GJA8	145847170	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.964000	0.87933	1.885000	0.54596	0.402000	0.26972	ATC		0.617	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		157	726	0	0	0	1	0	157	726				
TLE2	7089	broad.mit.edu	37	19	3011123	3011123	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3011123G>T	ENST00000262953.6	-	12	1171	c.909C>A	c.(907-909)tcC>tcA	p.S303S	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Missense_Mutation_p.P12H|TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000587217.1_5'Flank|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000426948.2_Silent_p.S317S|TLE2_ENST00000590536.1_Silent_p.S304S	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	303	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGTCACAGGATTTGGAGG	0.642																																						ENST00000447365.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(34-36)cCt>cAt		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							21.0	28.0	26.0					19																	3011123		2082	4214	6296	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3011123G>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.909C>A	19.37:g.3011123G>T						TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000262953.6_Silent_p.S303S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000590536.1_Silent_p.S304S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Silent_p.S317S	p.P12H			Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1125	-			131			Gln-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.35C>A	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527215	0.27299	.	.	ENSG00000065717	ENST00000447365	T	0.59906	0.23	4.58	3.51	0.40186	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	8	0.59425	D	0.04	2.597	9.9184	0.41448	0.0:0.0:0.6161:0.3839	.	12	B4DE62	.	H	12	ENSP00000406523:P12H	ENSP00000406523:P12H	P	-	2	0	TLE2	2962123	0.267000	0.24122	0.998000	0.56505	0.491000	0.33493	0.216000	0.17585	0.990000	0.38787	0.561000	0.74099	CCT		0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		24	106	1	0	5.35047e-06	1	5.50008e-06	24	106				
DHPS	1725	broad.mit.edu	37	19	12790297	12790297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12790297C>A	ENST00000210060.7	-	5	787	c.652G>T	c.(652-654)Gag>Tag	p.E218*	DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	218					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						TACACGGACTCTGGGTTGTTG	0.537																																						ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(652-654)Gag>Tag		deoxyhypusine synthase	Sulfadoxine(DB01299)						194.0	179.0	184.0					19																	12790297		2203	4300	6503	SO:0001587	stop_gained	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12790297C>A	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.652G>T	19.37:g.12790297C>A	ENSP00000210060:p.Glu218*					DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*	p.E218*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			5	787	-			218					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Nonsense_Mutation	SNP	ENST00000210060.7	37	c.652G>T	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500388	0.97616	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	.	.	.	5.45	5.45	0.79879	.	0.268691	0.41605	D	0.000852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.7813	16.7611	0.85512	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000210060:E218X	E	-	1	0	DHPS	12651297	1.000000	0.71417	0.907000	0.35723	0.963000	0.63663	7.375000	0.79646	2.546000	0.85860	0.563000	0.77884	GAG		0.537	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		224	976	1	0	5.46055e-65	1	6.90299e-65	224	976				
RBBP8	5932	broad.mit.edu	37	18	20573396	20573396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20573396C>T	ENST00000399722.2	+	11	1957	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C|RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C|RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	536	Damage-recruitment motif.				blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCCTCAAGCCGTAAGGCCTC	0.468								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1606-1608)Cgt>Tgt	Homologous recombination	retinoblastoma binding protein 8							39.0	41.0	41.0					18																	20573396		2202	4299	6501	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20573396C>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1606C>T	18.37:g.20573396C>T	ENSP00000382628:p.Arg536Cys					RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C|RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C|RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C	p.R536C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1957	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		536					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.1606C>T	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015832	0.19355	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.34667	1.38;1.35;1.38;1.37;1.38	5.97	2.82	0.32997	.	0.620350	0.16787	N	0.199531	T	0.33147	0.0853	L	0.55481	1.735	0.40353	D	0.979157	B;B;B	0.19817	0.018;0.014;0.039	B;B;B	0.10450	0.005;0.002;0.005	T	0.25502	-1.0130	10	0.87932	D	0	-0.5355	10.2979	0.43635	0.0:0.7571:0.0:0.2429	.	536;536;536	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	536	ENSP00000323050:R536C;ENSP00000382630:R536C;ENSP00000382628:R536C;ENSP00000382627:R536C;ENSP00000354024:R536C	ENSP00000323050:R536C	R	+	1	0	RBBP8	18827394	0.002000	0.14202	0.674000	0.29902	0.466000	0.32739	0.826000	0.27407	0.864000	0.35578	0.655000	0.94253	CGT		0.468	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		54	215	0	0	0	1	0	54	215				
OBSCN	84033	broad.mit.edu	37	1	228437821	228437821	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228437821C>A	ENST00000422127.1	+	14	4233	c.4189C>A	c.(4189-4191)Cga>Aga	p.R1397R	OBSCN_ENST00000570156.2_Silent_p.R1489R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1397	Ig-like 14.			R -> C (in Ref. 1; CAC85746). {ECO:0000305}.|RM -> HV (in Ref. 1; CAC85749). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCGAAAGTTCGAATGGAGGC	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4465-4467)Cga>Aga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							73.0	80.0	78.0					1																	228437821		2094	4201	6295	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437821C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4189C>A	1.37:g.228437821C>A						OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000422127.1_Silent_p.R1397R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.R1489R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4539	+		Prostate(94;0.0405)	467			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4465C>A	CCDS58065.1																																																																																				0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		195	507	1	0	3.06238e-75	1	3.90405e-75	195	507				
MACROD2	140733	broad.mit.edu	37	20	15948212	15948212	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948212G>A	ENST00000310348.4	+	13	922	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MACROD2_ENST00000378058.3_Missense_Mutation_p.E73K|MACROD2_ENST00000217246.4_Missense_Mutation_p.E308K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E73K			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	308	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGCAAAGGATGAAAATATTAC	0.358																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(922-924)Gaa>Aaa		MACRO domain containing 2							113.0	116.0	115.0					20																	15948212		2203	4300	6503	SO:0001583	missense	140733							g.chr20:15948212G>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.922G>A	20.37:g.15948212G>A	ENSP00000309809:p.Glu308Lys					MACROD2_ENST00000378058.3_Missense_Mutation_p.E73K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E73K|MACROD2_ENST00000310348.4_Missense_Mutation_p.E308K	p.E308K	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			13	1317	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	308			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.922G>A	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424905	0.25639	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.47528	2.52;2.52;0.84;0.84	5.33	3.39	0.38822	.	0.249682	0.28796	N	0.014119	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11817	-1.0572	10	0.42905	T	0.14	-9.2955	5.5574	0.17123	0.1679:0.0:0.6756:0.1565	.	308;308	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	K	308;308;73;73	ENSP00000217246:E308K;ENSP00000309809:E308K;ENSP00000385290:E73K;ENSP00000367297:E73K	ENSP00000217246:E308K	E	+	1	0	MACROD2	15896212	0.914000	0.31030	0.991000	0.47740	0.230000	0.25150	0.803000	0.27083	0.739000	0.32628	0.655000	0.94253	GAA		0.358	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		58	321	0	0	0	1	0	58	321				
SIGIRR	59307	broad.mit.edu	37	11	407555	407555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407555G>A	ENST00000431843.2	-	6	801	c.495C>T	c.(493-495)taC>taT	p.Y165Y	SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000397632.3_Silent_p.Y165Y|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	165	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTAGGCGTCGTAGAGCTTCC	0.652																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(493-495)taC>taT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							25.0	26.0	26.0					11																	407555		2190	4291	6481	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:407555G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.495C>T	11.37:g.407555G>A						SIGIRR_ENST00000397632.3_Silent_p.Y165Y|SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y|SIGIRR_ENST00000529486.1_5'UTR	p.Y165Y	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	801	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	165			TIR.		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.495C>T	CCDS31325.1																																																																																				0.652	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		16	72	0	0	0	1	0	16	72				
UGT2B15	7366	broad.mit.edu	37	4	69519975	69519975	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69519975C>T	ENST00000338206.5	-	5	1103		c.e5-1			NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15						cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TTGGGATGACCTAAAAGTGGA	0.378																																						ENST00000338206.5																			0											c.e5-1		UDP glucuronosyltransferase 2 family, polypeptide B15							88.0	91.0	90.0					4																	69519975		2203	4295	6498	SO:0001630	splice_region_variant	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519975C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1094-1G>A	4.37:g.69519975C>T								NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			5	1103	-								A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Splice_Site	SNP	ENST00000338206.5	37		CCDS3524.1	.	.	.	.	.	.	.	.	.	.	.	6.810	0.518474	0.13005	.	.	ENSG00000196620	ENST00000338206	.	.	.	2.57	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2985	0.26408	0.0:0.8554:0.0:0.1446	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2B15	69202570	1.000000	0.71417	0.935000	0.37517	0.127000	0.20565	3.361000	0.52306	0.398000	0.25338	0.455000	0.32223	.		0.378	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076	Intron	23	607	0	0	0	1	0	23	607				
MRPS35	60488	broad.mit.edu	37	12	27869269	27869269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27869269C>T	ENST00000081029.3	+	3	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S	MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCAGGACTGGCCTAGTGTTTA	0.408																																						ENST00000081029.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(199-201)Cct>Tct		mitochondrial ribosomal protein S35							95.0	89.0	91.0					12																	27869269		2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27869269C>T	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.199C>T	12.37:g.27869269C>T	ENSP00000081029:p.Pro67Ser					MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	p.P67S	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN			3	270	+	Lung SC(9;0.0873)		67					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.199C>T	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829827	0.16749	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.41758	1.0;0.99	5.81	2.73	0.32206	.	0.338596	0.34700	N	0.003748	T	0.23766	0.0575	L	0.39467	1.215	0.30240	N	0.795102	B;B	0.22146	0.022;0.065	B;B	0.22753	0.041;0.018	T	0.14117	-1.0484	10	0.07813	T	0.8	-10.0961	1.6724	0.02814	0.235:0.4684:0.1204:0.1762	.	67;67	P82673-2;P82673	.;RT35_HUMAN	S	67	ENSP00000081029:P67S;ENSP00000445390:P67S	ENSP00000081029:P67S	P	+	1	0	MRPS35	27760536	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.630000	0.46494	0.792000	0.33850	-0.150000	0.13652	CCT		0.408	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		61	278	0	0	0	1	0	61	278				
SLC17A4	10050	broad.mit.edu	37	6	25771219	25771219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25771219C>T	ENST00000377905.4	+	6	804	c.685C>T	c.(685-687)Cct>Tct	p.P229S	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	229					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATAGGATGGCCTTACGTCTT	0.443																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(685-687)Cct>Tct		solute carrier family 17, member 4							297.0	277.0	284.0					6																	25771219		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25771219C>T	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.685C>T	6.37:g.25771219C>T	ENSP00000367137:p.Pro229Ser					SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	p.P229S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			6	804	+			229					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.685C>T	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207591	0.79240	.	.	ENSG00000146039	ENST00000377905	T	0.58358	0.34	5.69	5.69	0.88448	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.399292	0.21607	N	0.071844	T	0.65801	0.2726	M	0.75085	2.285	0.80722	D	1	D	0.61080	0.989	D	0.73380	0.98	T	0.62006	-0.6945	10	0.37606	T	0.19	.	15.6767	0.77332	0.0:1.0:0.0:0.0	.	229	Q9Y2C5	S17A4_HUMAN	S	229	ENSP00000367137:P229S	ENSP00000367137:P229S	P	+	1	0	SLC17A4	25879198	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.603000	0.46266	2.860000	0.98153	0.655000	0.94253	CCT		0.443	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			54	791	0	0	0	1	0	54	791				
ARHGAP21	57584	broad.mit.edu	37	10	24880896	24880896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880896G>A	ENST00000396432.2	-	22	4408	c.3922C>T	c.(3922-3924)Cga>Tga	p.R1308*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1307	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTGATGTTCGAACAAGGGTG	0.438																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3922-3924)Cga>Tga		Rho GTPase activating protein 21							193.0	160.0	172.0					10																	24880896		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880896G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3922C>T	10.37:g.24880896G>A	ENSP00000379709:p.Arg1308*					ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	p.R1308*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			22	4408	-			1307			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.3922C>T	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.207246|9.207246	0.99099|0.99099	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481|ENST00000418033	.|.	.|.	.|.	5.76|5.76	2.3|2.3	0.28687|0.28687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63200	.|0.2491	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68435	.|-0.5409	.|3	0.02654|.	T|.	1|.	.|.	14.3043|14.3043	0.66375|0.66375	0.0:0.0:0.4766:0.5234|0.0:0.0:0.4766:0.5234	.|.	.|.	.|.	.|.	X|L	1308;757;1095|121	.|.	ENSP00000365604:R1095X|.	R|S	-|-	1|2	2|0	ARHGAP21|ARHGAP21	24920902|24920902	0.960000|0.960000	0.32886|0.32886	0.035000|0.035000	0.18076|0.18076	0.907000|0.907000	0.53573|0.53573	1.010000|1.010000	0.29898|0.29898	0.246000|0.246000	0.21394|0.21394	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.438	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		100	489	0	0	0	1	0	100	489				
STK10	6793	broad.mit.edu	37	5	171532714	171532714	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171532714C>A	ENST00000176763.5	-	7	1159	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGGCTATCTTCAGGAAGT	0.597																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(814-816)aaG>aaT		serine/threonine kinase 10							112.0	99.0	104.0					5																	171532714		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171532714C>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.816G>T	5.37:g.171532714C>A	ENSP00000176763:p.Lys272Asn						p.K272N	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	1159	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	272			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.816G>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458121	0.43634	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.20200	2.09	4.74	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122273	0.53938	D	0.000050	T	0.22513	0.0543	L	0.28504	0.86	0.58432	D	0.999998	P	0.35923	0.528	P	0.45856	0.495	T	0.04373	-1.0956	10	0.66056	D	0.02	.	10.4896	0.44744	0.0:0.9043:0.0:0.0957	.	272	O94804	STK10_HUMAN	N	272	ENSP00000176763:K272N	ENSP00000176763:K272N	K	-	3	2	STK10	171465319	0.984000	0.35163	0.759000	0.31340	0.579000	0.36224	1.338000	0.33873	0.977000	0.38444	0.655000	0.94253	AAG		0.597	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		67	290	1	0	4.37588e-27	1	5.05892e-27	67	290				
ASIC2	40	broad.mit.edu	37	17	32483180	32483180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32483180C>T	ENST00000359872.6	-	1	1133	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	124					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GATGGGGGTCCGGGATCTGCA	0.597																																						ENST00000359872.6																			0											c.(370-372)ccG>ccA		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						81.0	92.0	88.0					17																	32483180		2161	4264	6425	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483180C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.372G>A	17.37:g.32483180C>T							p.P124P	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1133	-			124					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.372G>A	CCDS42296.1																																																																																				0.597	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		56	451	0	0	0	1	0	56	451				
RNF123	63891	broad.mit.edu	37	3	49725205	49725205	+	5'Flank	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49725205A>C	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Intron|MST1_ENST00000449682.2_Missense_Mutation_p.C74G|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_Intron|MST1_ENST00000545762.1_Missense_Mutation_p.C60G	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AAGGGCCCACAGCGACCAGCA	0.627																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(220-222)Tgt>Ggt		macrophage stimulating 1 (hepatocyte growth factor-like)							42.0	39.0	40.0					3																	49725205		2203	4299	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725205A>C	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725205A>C	Exception_encountered					MST1_ENST00000494828.2_Intron|MST1_ENST00000545762.1_Missense_Mutation_p.C60G|MST1_ENST00000383728.3_Intron	p.C74G	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	581	-			60			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.220T>G	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032623	0.75504	.	.	ENSG00000173531	ENST00000449682;ENST00000545762	D;D	0.99207	-5.56;-5.56	5.3	5.3	0.74995	.	0.000000	0.46145	D	0.000308	D	0.99214	0.9727	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.99399	1.0927	10	0.87932	D	0	.	14.1063	0.65091	1.0:0.0:0.0:0.0	.	60;74	B7Z538;G3XAK1	.;.	G	74;60	ENSP00000414287:C74G;ENSP00000437535:C60G	ENSP00000411117:C74G	C	-	1	0	MST1	49700209	1.000000	0.71417	0.082000	0.20525	0.912000	0.54170	6.637000	0.74304	2.136000	0.66102	0.482000	0.46254	TGT		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		48	265	0	0	0	1	0	48	265				
VWA9	81556	broad.mit.edu	37	15	65892120	65892120	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65892120A>G	ENST00000395644.4	-	4	813	c.478T>C	c.(478-480)Ttg>Ctg	p.L160L	VWA9_ENST00000567744.1_Silent_p.L196L|VWA9_ENST00000431261.2_Silent_p.L81L|VWA9_ENST00000420799.2_Silent_p.L103L|VWA9_ENST00000313182.2_Silent_p.L160L|VWA9_ENST00000569491.1_Silent_p.L111L|VWA9_ENST00000442903.3_Silent_p.L124L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	160	VWFA.																ACCTCCTCCAAATTCGCCATG	0.358																																						ENST00000395644.4																			0											c.(478-480)Ttg>Ctg		von Willebrand factor A domain containing 9							137.0	115.0	122.0					15																	65892120		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65892120A>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.478T>C	15.37:g.65892120A>G						VWA9_ENST00000442903.3_Silent_p.L124L|VWA9_ENST00000569491.1_Silent_p.L111L|VWA9_ENST00000313182.2_Silent_p.L160L|VWA9_ENST00000420799.2_Silent_p.L103L|VWA9_ENST00000567744.1_Silent_p.L196L|VWA9_ENST00000431261.2_Silent_p.L81L	p.L160L							4	813	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.478T>C																																																																																					0.358	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		61	289	0	0	0	1	0	61	289				
ACAD11	84129	broad.mit.edu	37	3	132277901	132277901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132277901C>A	ENST00000264990.6	-	20	3228	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S|ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	753					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGTCCATCTGCTAAACGCAAA	0.458																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(2257-2259)Gca>Tca		acyl-CoA dehydrogenase family, member 11							118.0	104.0	109.0					3																	132277901		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132277901C>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2257G>T	3.37:g.132277901C>A	ENSP00000264990:p.Ala753Ser					ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S|ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S	p.A753S	NM_032169.4	NP_115545.3					20	3228	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.2257G>T	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972384	0.74246	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96168	-3.93;-3.93;-3.93	5.39	5.39	0.77823	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98485	0.9495	H	0.95645	3.7	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.99282	1.0896	9	0.59425	D	0.04	.	17.9556	0.89068	0.0:1.0:0.0:0.0	.	753	Q709F0	ACD11_HUMAN	S	649;753;278	ENSP00000347636:A649S;ENSP00000264990:A753S;ENSP00000446263:A278S	ENSP00000264990:A753S	A	-	1	0	ACAD11	133760591	1.000000	0.71417	0.961000	0.40146	0.087000	0.18053	6.602000	0.74141	2.537000	0.85549	0.655000	0.94253	GCA		0.458	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		58	201	1	0	8.72158e-25	1	9.98758e-25	58	201				
CAPN12	147968	broad.mit.edu	37	19	39228155	39228155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39228155C>A	ENST00000328867.4	-	9	1397	c.1089G>T	c.(1087-1089)tgG>tgT	p.W363C	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.W214C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	363	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGCCACGCACCCAGCGGCCTT	0.701																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1087-1089)tgG>tgT		calpain 12							25.0	31.0	29.0					19																	39228155		2199	4291	6490	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39228155C>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1089G>T	19.37:g.39228155C>A	ENSP00000331636:p.Trp363Cys					CAPN12_ENST00000601953.1_Missense_Mutation_p.W214C	p.W363C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		9	1397	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		363			Domain III.			Missense_Mutation	SNP	ENST00000328867.4	37	c.1089G>T	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333993	0.81801	.	.	ENSG00000182472	ENST00000328867	D	0.95853	-3.83	3.76	3.76	0.43208	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98858	1.0761	10	0.87932	D	0	.	13.4367	0.61088	0.0:1.0:0.0:0.0	.	363	Q6ZSI9	CAN12_HUMAN	C	363	ENSP00000331636:W363C	ENSP00000331636:W363C	W	-	3	0	CAPN12	43919995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.044000	0.64214	2.086000	0.62901	0.555000	0.69702	TGG		0.701	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			8	367	1	0	0.00307968	1	0.00310409	8	367				
SIX5	147912	broad.mit.edu	37	19	46271482	46271482	+	Silent	SNP	G	G	A	rs544606444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46271482G>A	ENST00000317578.6	-	1	1002	c.621C>T	c.(619-621)tgC>tgT	p.C207C	SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	207					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCTCCTTGAAGCAGTAGACTG	0.687																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(619-621)tgC>tgT		SIX homeobox 5							36.0	33.0	34.0					19																	46271482		2203	4300	6503	SO:0001819	synonymous_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46271482G>A	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.621C>T	19.37:g.46271482G>A						AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron	p.C207C	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	1	1002	-		Ovarian(192;0.0308)|all_neural(266;0.112)	207						Silent	SNP	ENST00000317578.6	37	c.621C>T	CCDS12673.1																																																																																				0.687	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		15	94	0	0	0	1	0	15	94				
CFAP36	112942	broad.mit.edu	37	2	55761032	55761032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55761032G>A	ENST00000349456.4	+	5	569	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N|CCDC104_ENST00000490934.1_3'UTR			Q96G28	CFA36_HUMAN		141										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCTTAACCGATGGCTCTGA	0.358																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(421-423)Gat>Aat		coiled-coil domain containing 104							134.0	130.0	131.0					2																	55761032		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55761032G>A																												ENST00000349456.4:c.421G>A	2.37:g.55761032G>A	ENSP00000295117:p.Asp141Asn					CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N	p.D141N			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	569	+			141					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.421G>A	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873600	0.72180	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.34859	2.03;1.35;2.03;2.12;1.34	6.16	6.16	0.99307	.	0.145792	0.64402	D	0.000009	T	0.23210	0.0561	N	0.12961	0.28	0.58432	D	0.999998	D;P	0.55172	0.97;0.535	B;B	0.37650	0.255;0.09	T	0.02860	-1.1101	10	0.26408	T	0.33	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	141;166	Q96G28;Q96G28-2	CC104_HUMAN;.	N	166;141;141;141;141	ENSP00000342699:D166N;ENSP00000385400:D141N;ENSP00000295117:D141N;ENSP00000385376:D141N;ENSP00000385972:D141N	ENSP00000342699:D166N	D	+	1	0	CCDC104	55614536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.667000	0.54547	2.937000	0.99478	0.650000	0.86243	GAT		0.358	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			82	309	0	0	0	1	0	82	309				
TSPAN4	7106	broad.mit.edu	37	11	862729	862729	+	Nonsense_Mutation	SNP	C	C	A	rs144548229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:862729C>A	ENST00000397404.1	+	4	502	c.243C>A	c.(241-243)tgC>tgA	p.C81*	TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|RP11-1391J7.1_ENST00000506172.2_RNA|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	81					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACAAGTGCCTCCTGCTCA	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(241-243)tgC>tgA		tetraspanin 4							50.0	48.0	48.0					11																	862729		2203	4299	6502	SO:0001587	stop_gained	0				protein complex assembly	integral to plasma membrane		g.chr11:862729C>A	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.243C>A	11.37:g.862729C>A	ENSP00000380553:p.Cys81*					TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*|TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*	p.C81*	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	502	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	81					Q6IAP6	Nonsense_Mutation	SNP	ENST00000397404.1	37	c.243C>A	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803300	0.90623	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000530404;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	.	.	.	3.67	2.76	0.32466	.	0.314743	0.34906	N	0.003587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9629	0.47395	0.0:0.9074:0.0:0.0926	.	.	.	.	X	81;81;17;81;81;17;81;81;17;81;81;100;81	.	ENSP00000324304:C81X	C	+	3	2	TSPAN4	852729	0.989000	0.36119	0.999000	0.59377	0.970000	0.65996	0.340000	0.19892	0.765000	0.33221	0.561000	0.74099	TGC		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			38	167	1	0	3.66082e-28	1	4.25431e-28	38	167				
KCNH2	3757	broad.mit.edu	37	7	150648836	150648836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648836C>T	ENST00000262186.5	-	7	2046	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	KCNH2_ENST00000392968.2_Missense_Mutation_p.V453M|KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	549					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AAGAACAGCACGGCCGCGCCG	0.647																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1357-1359)Gtg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						68.0	56.0	60.0					7																	150648836		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648836C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1645G>A	7.37:g.150648836C>T	ENSP00000262186:p.Val549Met					KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M|KCNH2_ENST00000262186.5_Missense_Mutation_p.V549M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M	p.V453M			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	2477	-	all_neural(206;0.219)		549					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1357G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150737	0.57151	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.71206	2.165	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;0.961;0.995;0.975	D;D;P;P;P	0.91635	0.999;0.997;0.557;0.906;0.526	D	0.98021	1.0371	10	0.52906	T	0.07	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	453;549;209;549;209	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	M	209;453;549;209;549	ENSP00000328531:V209M;ENSP00000376695:V453M;ENSP00000262186:V549M;ENSP00000387657:V549M	ENSP00000262186:V549M	V	-	1	0	KCNH2	150279769	1.000000	0.71417	0.992000	0.48379	0.132000	0.20833	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GTG		0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		47	223	0	0	0	1	0	47	223				
RASAL1	8437	broad.mit.edu	37	12	113537779	113537779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113537779C>A	ENST00000261729.5	-	22	2685	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	RASAL1_ENST00000546530.1_Missense_Mutation_p.Q792H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	790					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCTCCTGCTGCTGGAACTCCT	0.672																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(2374-2376)caG>caT		RAS protein activator like 1 (GAP1 like)							39.0	46.0	43.0					12																	113537779		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113537779C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2370G>T	12.37:g.113537779C>A	ENSP00000261729:p.Gln790His					RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q790H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H	p.Q792H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			22	2661	-			790					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.2376G>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	c	15.57	2.873304	0.51695	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69685	-0.42;-0.34;-0.4;-0.42	5.4	5.4	0.78164	.	0.351753	0.29486	N	0.012005	T	0.75568	0.3867	L	0.54323	1.7	0.34609	D	0.717338	D;D;D;D	0.58970	0.984;0.984;0.973;0.98	P;P;P;P	0.59056	0.851;0.851;0.713;0.804	T	0.82255	-0.0548	10	0.54805	T	0.06	.	16.1599	0.81698	0.0:1.0:0.0:0.0	.	791;792;790;762	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	H	792;790;762;791	ENSP00000450244:Q792H;ENSP00000261729:Q790H;ENSP00000395920:Q762H;ENSP00000448510:Q791H	ENSP00000261729:Q790H	Q	-	3	2	RASAL1	112022162	1.000000	0.71417	0.935000	0.37517	0.058000	0.15608	3.118000	0.50414	2.543000	0.85770	0.450000	0.29827	CAG		0.672	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		14	379	1	0	0.000219431	1	0.000222766	14	379				
RYR3	6263	broad.mit.edu	37	15	33855181	33855181	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33855181A>G	ENST00000389232.4	+	11	1186	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	RYR3_ENST00000415757.3_Silent_p.K372K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	372	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGACGCCAAAACTTCCCGCC	0.448																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1114-1116)aaA>aaG		ryanodine receptor 3							126.0	125.0	126.0					15																	33855181		1872	4105	5977	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33855181A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1116A>G	15.37:g.33855181A>G						RYR3_ENST00000415757.3_Silent_p.K372K	p.K372K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	11	1186	+		all_lung(180;7.18e-09)	372			MIR 5.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.1116A>G	CCDS45210.1																																																																																				0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			83	381	0	0	0	1	0	83	381				
MAPRE3	22924	broad.mit.edu	37	2	27247044	27247044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27247044C>T	ENST00000233121.2	+	4	546	c.348C>T	c.(346-348)gaC>gaT	p.D116D	MAPRE3_ENST00000405074.3_Silent_p.D116D|MAPRE3_ENST00000402218.1_Silent_p.D116D			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	116	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTCTTTGACGCAAACTATG	0.423																																						ENST00000233121.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13						c.(346-348)gaC>gaT		microtubule-associated protein, RP/EB family, member 3							58.0	60.0	59.0					2																	27247044		2203	4300	6503	SO:0001819	synonymous_variant	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27247044C>T	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.348C>T	2.37:g.27247044C>T						MAPRE3_ENST00000405074.3_Silent_p.D116D|MAPRE3_ENST00000402218.1_Silent_p.D116D	p.D116D			Q9UPY8	MARE3_HUMAN			4	546	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		116			CH.		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Silent	SNP	ENST00000233121.2	37	c.348C>T	CCDS1731.1																																																																																				0.423	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		11	354	0	0	0	1	0	11	354				
SPEM1	374768	broad.mit.edu	37	17	7323765	7323765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323765G>T	ENST00000323675.3	+	1	87	c.62G>T	c.(61-63)aGc>aTc	p.S21I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	21					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AACAGCAACAGCTGCCAGGAC	0.607																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(61-63)aGc>aTc		spermatid maturation 1							31.0	35.0	34.0					17																	7323765		1941	4152	6093	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7323765G>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.62G>T	17.37:g.7323765G>T	ENSP00000315554:p.Ser21Ile					RP11-104H15.7_ENST00000575310.1_RNA	p.S21I	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			1	87	+		Prostate(122;0.173)	21						Missense_Mutation	SNP	ENST00000323675.3	37	c.62G>T	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893486	0.52121	.	.	ENSG00000181323	ENST00000323675	T	0.56275	0.47	4.97	-9.92	0.00455	.	0.622559	0.14047	N	0.345034	T	0.32704	0.0838	L	0.38175	1.15	0.09310	N	0.99999	P	0.43701	0.815	B	0.40009	0.316	T	0.40213	-0.9575	10	0.66056	D	0.02	-4.0837	9.1542	0.36983	0.163:0.3567:0.4802:0.0	.	21	Q8N4L4	SPEM1_HUMAN	I	21	ENSP00000315554:S21I	ENSP00000315554:S21I	S	+	2	0	SPEM1	7264489	0.029000	0.19370	0.844000	0.33320	0.930000	0.56654	-1.444000	0.02403	-1.398000	0.02066	0.491000	0.48974	AGC		0.607	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		18	57	1	0	1.67942e-08	1	1.75525e-08	18	57				
ABCA1	19	broad.mit.edu	37	9	107546686	107546686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546686G>A	ENST00000374736.3	-	50	7090	c.6696C>T	c.(6694-6696)gaC>gaT	p.D2232D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2232					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GTAATGAGAGGTCTTTTAAGT	0.373																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6694-6696)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						219.0	206.0	210.0					9																	107546686		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107546686G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6696C>T	9.37:g.107546686G>A							p.D2232D	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	50	7090	-			2232					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.6696C>T	CCDS6762.1																																																																																				0.373	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		61	318	0	0	0	1	0	61	318				
C4orf19	55286	broad.mit.edu	37	4	37592370	37592370	+	Silent	SNP	G	G	A	rs370496029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:37592370G>A	ENST00000284437.6	+	3	871	c.693G>A	c.(691-693)acG>acA	p.T231T	C4orf19_ENST00000381980.4_Silent_p.T231T|C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	231										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTTTGAATACGCCCTTCTCTG	0.458																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(691-693)acG>acA		chromosome 4 open reading frame 19		G	,	1,4405	2.1+/-5.4	0,1,2202	66.0	65.0	65.0		693,693	-1.5	0.0	4		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C4orf19	NM_001104629.1,NM_018302.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	231/315,231/315	37592370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55286							g.chr4:37592370G>A	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.693G>A	4.37:g.37592370G>A						C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.T231T	p.T231T	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	871	+			231					Q9NV03	Silent	SNP	ENST00000284437.6	37	c.693G>A	CCDS3442.1																																																																																				0.458	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		36	176	0	0	0	1	0	36	176				
TMEM74B	55321	broad.mit.edu	37	20	1162153	1162153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1162153C>A	ENST00000381894.3	-	2	781	c.110G>T	c.(109-111)aGc>aTc	p.S37I	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	37						integral component of membrane (GO:0016021)											GGGACCATTGCTCAGTGTCTT	0.597																																						ENST00000381894.3																			0											c.(109-111)aGc>aTc		transmembrane protein 74B							38.0	36.0	37.0					20																	1162153		2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1162153C>A	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.110G>T	20.37:g.1162153C>A	ENSP00000371318:p.Ser37Ile					TMEM74B_ENST00000481747.1_5'UTR	p.S37I	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	781	-			37					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.110G>T	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434713	0.43224	.	.	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.53857	0.68;0.6	4.56	1.58	0.23477	.	0.676987	0.13563	N	0.378607	T	0.40815	0.1132	L	0.36672	1.1	0.26944	N	0.966177	P	0.36249	0.545	B	0.38056	0.264	T	0.22871	-1.0204	10	0.44086	T	0.13	-8.8035	7.4577	0.27276	0.0:0.7207:0.0:0.2793	.	37	Q9NUR3	CT046_HUMAN	I	37	ENSP00000371318:S37I;ENSP00000400552:S37I	ENSP00000371318:S37I	S	-	2	0	C20orf46	1110153	0.654000	0.27367	0.998000	0.56505	0.974000	0.67602	1.053000	0.30442	0.178000	0.19917	0.563000	0.77884	AGC		0.597	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		8	273	1	0	0.0381472	1	0.0382505	8	273				
STX7	8417	broad.mit.edu	37	6	132785210	132785210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132785210G>A	ENST00000367941.2	-	9	728	c.615C>T	c.(613-615)agC>agT	p.S205S	STX7_ENST00000367937.4_Silent_p.S205S	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	205	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGGCTTCTATGCTATCTGTAA	0.363																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(613-615)agC>agT		syntaxin 7							136.0	117.0	123.0					6																	132785210		2203	4300	6503	SO:0001819	synonymous_variant	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132785210G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.615C>T	6.37:g.132785210G>A						STX7_ENST00000367937.4_Silent_p.S205S	p.S205S	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	9	728	-	Breast(56;0.0615)		205			t-SNARE coiled-coil homology.		E1P579|Q5SZW2|Q96ES9	Silent	SNP	ENST00000367941.2	37	c.615C>T	CCDS5153.1																																																																																				0.363	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			81	457	0	0	0	1	0	81	457				
POLDIP3	84271	broad.mit.edu	37	22	42981253	42981253	+	3'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42981253C>T	ENST00000252115.5	-	0	1914				POLDIP3_ENST00000339677.6_Missense_Mutation_p.A174T|POLDIP3_ENST00000491021.1_5'Flank|POLDIP3_ENST00000348657.2_3'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3						poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGACAAGAGGCCTGAGACCTG	0.627																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000339677.6																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(520-522)Gcc>Acc		polymerase (DNA-directed), delta interacting protein 3							20.0	18.0	19.0					22																	42981253		870	1987	2857	SO:0001624	3_prime_UTR_variant	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42981253C>T		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.*544G>A	22.37:g.42981253C>T						POLDIP3_ENST00000348657.2_3'UTR|POLDIP3_ENST00000252115.5_3'UTR	p.A174T			Q9BY77	PDIP3_HUMAN			3	519	-			0					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.520G>A	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	9.929	1.214249	0.22289	.	.	ENSG00000100227	ENST00000339677	.	.	.	4.24	-8.12	0.01078	.	.	.	.	.	T	0.21761	0.0524	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32534	-0.9903	7	0.87932	D	0	.	1.386	0.02240	0.3349:0.1739:0.3262:0.165	.	174	Q6R954	.	T	174	.	ENSP00000343060:A174T	A	-	1	0	POLDIP3	41311197	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.596000	0.05720	-1.300000	0.02341	0.655000	0.94253	GCC		0.627	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		24	55	0	0	0	1	0	24	55				
ZNF671	79891	broad.mit.edu	37	19	58232204	58232204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232204C>T	ENST00000317398.6	-	4	1345	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	ZNF671_ENST00000335820.3_Missense_Mutation_p.R319Q|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGTGAGTTCGTTGGTGCAG	0.488																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1249-1251)cGa>cAa		zinc finger protein 671							128.0	102.0	111.0					19																	58232204		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232204C>T		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1250G>A	19.37:g.58232204C>T	ENSP00000321848:p.Arg417Gln					ZNF671_ENST00000335820.3_Missense_Mutation_p.R319Q|AC003006.7_ENST00000599221.1_Intron	p.R417Q	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1345	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	417					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1250G>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653582	0.88056	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.24723	1.84;1.84	1.88	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	L	0.60845	1.875	0.20638	N	0.999879	D	0.89917	1.0	D	0.64877	0.93	T	0.11494	-1.0585	9	0.87932	D	0	.	9.7464	0.40448	0.0:1.0:0.0:0.0	.	417	Q8TAW3	ZN671_HUMAN	Q	417;319	ENSP00000321848:R417Q;ENSP00000338670:R319Q	ENSP00000321848:R417Q	R	-	2	0	ZNF671	62924016	0.000000	0.05858	0.008000	0.14137	0.985000	0.73830	-0.672000	0.05244	1.359000	0.45940	0.467000	0.42956	CGA		0.488	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		92	387	0	0	0	1	0	92	387				
OR5B3	441608	broad.mit.edu	37	11	58170060	58170060	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170060A>G	ENST00000309403.2	-	1	822	c.823T>C	c.(823-825)Ttc>Ctc	p.F275L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTGTATAGAACACAGGTGCC	0.433																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(823-825)Ttc>Ctc		olfactory receptor, family 5, subfamily B, member 3							127.0	116.0	120.0					11																	58170060		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170060A>G	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.823T>C	11.37:g.58170060A>G	ENSP00000308270:p.Phe275Leu						p.F275L	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	822	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	275					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.823T>C	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	12.42	1.932954	0.34096	.	.	ENSG00000172769	ENST00000309403	T	0.00032	8.88	4.06	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000114	T	0.00210	0.0006	L	0.55481	1.735	0.28989	N	0.888178	P	0.44877	0.845	P	0.50825	0.651	T	0.29579	-1.0007	10	0.66056	D	0.02	-80.9222	5.6049	0.17374	0.6909:0.0:0.3091:0.0	.	275	Q8NH48	OR5B3_HUMAN	L	275	ENSP00000308270:F275L	ENSP00000308270:F275L	F	-	1	0	OR5B3	57926636	0.024000	0.19004	0.993000	0.49108	0.136000	0.21042	1.232000	0.32636	0.728000	0.32382	-0.250000	0.11733	TTC		0.433	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		8	413	0	0	0	1	0	8	413				
FAT3	120114	broad.mit.edu	37	11	92534289	92534289	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534289T>G	ENST00000298047.6	+	9	8127	c.8110T>G	c.(8110-8112)Ttc>Gtc	p.F2704V	FAT3_ENST00000525166.1_Missense_Mutation_p.F2554V|FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2704	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGAAACGTTCTTGCCATC	0.473										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8110-8112)Ttc>Gtc		FAT atypical cadherin 3							72.0	68.0	70.0					11																	92534289		1964	4151	6115	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534289T>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8110T>G	11.37:g.92534289T>G	ENSP00000298047:p.Phe2704Val	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V|FAT3_ENST00000525166.1_Missense_Mutation_p.F2554V	p.F2704V			Q8TDW7	FAT3_HUMAN			9	8127	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2704			Cadherin 24.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8110T>G		.	.	.	.	.	.	.	.	.	.	T	3.434	-0.115509	0.06881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	6.08	-2.07	0.07276	.	.	.	.	.	T	0.31009	0.0783	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16958	-1.0385	9	0.15952	T	0.53	.	3.0455	0.06152	0.1513:0.4275:0.2181:0.2031	.	2704	Q8TDW7-3	.	V	2704;2704;2554	ENSP00000298047:F2704V;ENSP00000387040:F2704V;ENSP00000432586:F2554V	ENSP00000298047:F2704V	F	+	1	0	FAT3	92173937	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.105000	0.15333	-0.283000	0.09115	-0.326000	0.08463	TTC		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		32	172	0	0	0	1	0	32	172				
RAB3IP	117177	broad.mit.edu	37	12	70149351	70149351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149351G>A	ENST00000247833.7	+	2	539	c.163G>A	c.(163-165)Gca>Aca	p.A55T	RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000550536.1_Missense_Mutation_p.A71T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTATCCAGGCAAATGCATT	0.443																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(211-213)Gca>Aca		RAB3A interacting protein							168.0	152.0	157.0					12																	70149351		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149351G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.163G>A	12.37:g.70149351G>A	ENSP00000247833:p.Ala55Thr					RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T|RAB3IP_ENST00000247833.7_Missense_Mutation_p.A55T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T	p.A71T	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	668	+	Esophageal squamous(21;0.187)		71						Missense_Mutation	SNP	ENST00000247833.7	37	c.211G>A	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759935	0.69763	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.47869	0.84;0.83	5.93	5.0	0.66597	.	0.258959	0.44688	D	0.000438	T	0.36496	0.0969	N	0.24115	0.695	0.80722	D	1	P;P;P;P	0.38504	0.634;0.546;0.493;0.634	B;B;B;B	0.39258	0.295;0.133;0.295;0.295	T	0.11348	-1.0591	10	0.30854	T	0.27	.	15.3984	0.74816	0.0:0.2576:0.7424:0.0	.	71;71;55;55	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	T	55;55;55;55;71;71	ENSP00000247833:A55T;ENSP00000447300:A71T	ENSP00000247833:A55T	A	+	1	0	RAB3IP	68435618	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.265000	0.43311	2.814000	0.96858	0.655000	0.94253	GCA		0.443	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		9	394	0	0	0	1	0	9	394				
DHX58	79132	broad.mit.edu	37	17	40259626	40259626	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259626G>A	ENST00000251642.3	-	8	1215	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	331					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCACCATCGAACAGGGCCA	0.662																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(991-993)ttC>ttT		DEXH (Asp-Glu-X-His) box polypeptide 58							15.0	15.0	15.0					17																	40259626		2203	4296	6499	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40259626G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.993C>T	17.37:g.40259626G>A							p.F331F	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	8	1215	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	331					Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.993C>T	CCDS11416.1																																																																																				0.662	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		25	91	0	0	0	1	0	25	91				
TBX15	6913	broad.mit.edu	37	1	119427768	119427768	+	Missense_Mutation	SNP	C	C	T	rs370477009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119427768C>T	ENST00000369429.3	-	8	1405	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	TBX15_ENST00000207157.3_Missense_Mutation_p.G360S			Q96SF7	TBX15_HUMAN	T-box 15	466					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGCTGGCCACCGTAGGCTTCC	0.567																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1396-1398)Ggt>Agt		T-box 15		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		1078	5.3	1.0	1		59	0,8600		0,0,4300	no	missense	TBX15	NM_152380.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	360/497	119427768	1,13005	2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427768C>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1396G>A	1.37:g.119427768C>T	ENSP00000358437:p.Gly466Ser					TBX15_ENST00000207157.3_Missense_Mutation_p.G360S	p.G466S			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1405	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	466					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1396G>A		.	.	.	.	.	.	.	.	.	.	C	6.700	0.497869	0.12762	2.27E-4	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;T	0.86497	-2.13;-2.03;-0.92	5.31	5.31	0.75309	.	0.169902	0.52532	D	0.000061	T	0.33933	0.0880	N	0.00841	-1.15	0.38949	D	0.958302	P;B	0.36412	0.552;0.027	B;B	0.22753	0.041;0.003	T	0.63883	-0.6536	10	0.02654	T	1	.	6.3764	0.21509	0.0:0.7909:0.0:0.2091	.	263;466	E9PCG3;Q96SF7	.;TBX15_HUMAN	S	263;360;466;194	ENSP00000207157:G360S;ENSP00000358437:G466S;ENSP00000398625:G194S	ENSP00000207157:G360S	G	-	1	0	TBX15	119229291	0.337000	0.24766	0.967000	0.41034	0.748000	0.42578	0.911000	0.28584	2.768000	0.95171	0.561000	0.74099	GGT		0.567	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		26	228	0	0	0	1	0	26	228				
OLFML2B	25903	broad.mit.edu	37	1	161970022	161970022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161970022C>T	ENST00000294794.3	-	5	1253	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R278Q	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	277					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTGCAGGGGCCGCTGTGACTT	0.607																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(829-831)cGg>cAg		olfactomedin-like 2B							54.0	55.0	54.0					1																	161970022		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161970022C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.830G>A	1.37:g.161970022C>T	ENSP00000294794:p.Arg277Gln					OLFML2B_ENST00000367940.2_Missense_Mutation_p.R278Q	p.R277Q	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		5	1253	-	all_hematologic(112;0.156)		277					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.830G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014654	0.35511	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86627	-2.15;-2.15	5.22	2.2	0.27929	.	.	.	.	.	T	0.50034	0.1592	N	0.08118	0	0.26593	N	0.973169	B;B	0.13594	0.008;0.006	B;B	0.06405	0.001;0.002	T	0.04509	-1.0946	8	0.18276	T	0.48	.	5.8403	0.18629	0.0:0.5323:0.2982:0.1695	.	278;277	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	Q	277;278	ENSP00000294794:R277Q;ENSP00000356917:R278Q	ENSP00000294794:R277Q	R	-	2	0	OLFML2B	160236646	0.722000	0.28017	0.959000	0.39883	0.888000	0.51559	0.307000	0.19296	0.172000	0.19760	0.561000	0.74099	CGG		0.607	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		73	409	0	0	0	1	0	73	409				
RCBTB1	55213	broad.mit.edu	37	13	50125569	50125569	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50125569T>C	ENST00000378302.2	-	8	1007	c.747A>G	c.(745-747)acA>acG	p.T249T	RCBTB1_ENST00000258646.3_Silent_p.T249T|RCBTB1_ENST00000546015.1_Silent_p.T249T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	249					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|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;4.7e-09)		AGCCCTCATCTGTTAGTGCTA	0.473																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(745-747)acA>acG		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							146.0	125.0	132.0					13																	50125569		2203	4300	6503	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50125569T>C	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.747A>G	13.37:g.50125569T>C						RCBTB1_ENST00000258646.3_Silent_p.T249T|RCBTB1_ENST00000546015.1_Silent_p.T249T	p.T249T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	8	1007	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	249					Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.747A>G	CCDS9418.1																																																																																				0.473	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		64	244	0	0	0	1	0	64	244				
PKD1L1	168507	broad.mit.edu	37	7	47979804	47979804	+	Missense_Mutation	SNP	C	C	T	rs145121666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47979804C>T	ENST00000289672.2	-	3	321	c.271G>A	c.(271-273)Gct>Act	p.A91T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	91					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTGGAAGCTGATGAGGAT	0.463																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(271-273)Gct>Act		polycystic kidney disease 1 like 1							158.0	134.0	142.0					7																	47979804		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47979804C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.271G>A	7.37:g.47979804C>T	ENSP00000289672:p.Ala91Thr						p.A91T	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			3	321	-			91					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.271G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899348	0.33535	.	.	ENSG00000158683	ENST00000289672	T	0.23754	1.89	2.82	0.899	0.19271	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	P	0.36065	0.535	B	0.34301	0.179	T	0.19647	-1.0299	9	0.42905	T	0.14	-0.8432	8.89	0.35427	0.0:0.5528:0.4472:0.0	.	91	Q8TDX9	PK1L1_HUMAN	T	91	ENSP00000289672:A91T	ENSP00000289672:A91T	A	-	1	0	PKD1L1	47946329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.282000	0.18829	0.231000	0.21079	-0.156000	0.13503	GCT		0.463	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		69	334	0	0	0	1	0	69	334				
KCND3	3752	broad.mit.edu	37	1	112524699	112524699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112524699G>T	ENST00000315987.2	-	2	1129	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q|KCND3_ENST00000369697.1_Missense_Mutation_p.P217Q	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	217					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTCCCCGCACGGCAGCTCCTT	0.642																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(649-651)cCg>cAg		potassium voltage-gated channel, Shal-related subfamily, member 3							28.0	29.0	28.0					1																	112524699		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524699G>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.650C>A	1.37:g.112524699G>T	ENSP00000319591:p.Pro217Gln					KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q|KCND3_ENST00000315987.2_Missense_Mutation_p.P217Q	p.P217Q			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	719	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	217					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.650C>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090032	0.55968	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96967	-4.18;-4.19;-4.18	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	M	0.64997	1.995	0.80722	D	1	B;B	0.29590	0.25;0.25	B;B	0.26614	0.071;0.071	D	0.92464	0.5980	10	0.52906	T	0.07	.	18.9981	0.92821	0.0:0.0:1.0:0.0	.	217;217	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	217	ENSP00000358711:P217Q;ENSP00000319591:P217Q;ENSP00000306923:P217Q	ENSP00000306923:P217Q	P	-	2	0	KCND3	112326222	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	CCG		0.642	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		43	191	1	0	1.96642e-18	1	2.182e-18	43	191				
DLGAP2	9228	broad.mit.edu	37	8	1626412	1626412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1626412C>T	ENST00000421627.2	+	9	2215	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	773					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AACAGCGTCACGGCCGCCGTC	0.562																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2080-2082)aCg>aTg		discs, large (Drosophila) homolog-associated protein 2							53.0	59.0	57.0					8																	1626412		2092	4194	6286	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626412C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2081C>T	8.37:g.1626412C>T	ENSP00000400258:p.Thr694Met						p.T694M	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2215	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	773					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2081C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601107|4.601107	0.87055|0.87055	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.21932	.|1.98	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50514|0.50514	0.1620|0.1620	M|M	0.80616|0.80616	2.505|2.505	0.49687|0.49687	D|D	0.99981|0.99981	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.984;0.991	T|T	0.58329|0.58329	-0.7655|-0.7655	5|10	.|0.87932	.|D	.|0	-9.9664|-9.9664	17.9665|17.9665	0.89100|0.89100	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|759;773	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	697|725;694	.|ENSP00000400258:T694M	.|ENSP00000348366:T725M	R|T	+|+	1|2	2|0	DLGAP2|DLGAP2	1613819|1613819	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.925000|0.925000	0.55904|0.55904	7.350000|7.350000	0.79385|0.79385	2.231000|2.231000	0.72958|0.72958	0.557000|0.557000	0.71058|0.71058	CGG|ACG		0.562	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		47	268	0	0	0	1	0	47	268				
GABPA	2551	broad.mit.edu	37	21	27136617	27136617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27136617C>T	ENST00000354828.3	+	8	1426	c.899C>T	c.(898-900)cCg>cTg	p.P300L	GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	300					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAAGAGCGCCGAGGATTTCA	0.358																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(898-900)cCg>cTg		GA binding protein transcription factor, alpha subunit 60kDa							61.0	64.0	63.0					21																	27136617		2203	4297	6500	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27136617C>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.899C>T	21.37:g.27136617C>T	ENSP00000346886:p.Pro300Leu					GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	p.P300L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			8	1426	+			300					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.899C>T	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344595	0.61073	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13657	2.57;2.57	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.085290	0.50627	D	0.000119	T	0.09423	0.0232	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	B	0.35353	0.201	T	0.29181	-1.0020	10	0.25106	T	0.35	.	17.7202	0.88349	0.0:1.0:0.0:0.0	.	300	Q06546	GABPA_HUMAN	L	300	ENSP00000346886:P300L;ENSP00000382948:P300L	ENSP00000346886:P300L	P	+	2	0	GABPA	26058488	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.331000	0.65905	2.586000	0.87340	0.591000	0.81541	CCG		0.358	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		63	301	0	0	0	1	0	63	301				
BEST1	7439	broad.mit.edu	37	11	61730290	61730290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61730290C>A	ENST00000378043.4	+	10	2307	c.1664C>A	c.(1663-1665)cCt>cAt	p.P555H	BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H|BEST1_ENST00000449131.2_Missense_Mutation_p.P495H|BEST1_ENST00000301774.9_Missense_Mutation_p.P183H	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	555					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAAAGAACCTTTGGAACAA	0.478																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1483-1485)cCt>cAt		bestrophin 1							144.0	154.0	151.0					11																	61730290		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730290C>A	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1664C>A	11.37:g.61730290C>A	ENSP00000367282:p.Pro555His					FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.P183H|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H|BEST1_ENST00000378043.4_Missense_Mutation_p.P555H|FTH1_ENST00000529191.1_Intron	p.P495H	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			9	1570	+			555					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.1484C>A	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	9.393	1.076004	0.20227	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.96992	-4.19;-3.98;-0.15;-4.2	3.97	0.871	0.19107	.	2.113420	0.02237	N	0.065424	D	0.92166	0.7516	L	0.27053	0.805	0.20074	N	0.999932	B;B;B	0.20261	0.011;0.006;0.043	B;B;B	0.18871	0.012;0.005;0.023	T	0.83072	-0.0142	10	0.42905	T	0.14	-0.0463	4.6544	0.12610	0.1568:0.6:0.1525:0.0907	.	468;555;495	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	H	555;468;183;495	ENSP00000367282:P555H;ENSP00000367281:P468H;ENSP00000301774:P183H;ENSP00000399709:P495H	ENSP00000301774:P183H	P	+	2	0	BEST1	61486866	0.001000	0.12720	0.001000	0.08648	0.204000	0.24138	0.617000	0.24359	0.373000	0.24621	0.561000	0.74099	CCT		0.478	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		9	349	1	0	0.00829132	1	0.00834067	9	349				
KSR1	8844	broad.mit.edu	37	17	25936261	25936261	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25936261G>T	ENST00000319524.6	+	17	2197	c.2197G>T	c.(2197-2199)Gat>Tat	p.D733Y	KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y|KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000582410.1_5'Flank|KSR1_ENST00000398988.3_Missense_Mutation_p.D596Y			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGTACACAAAGATCTCAAATC	0.537																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1786-1788)Gat>Tat		kinase suppressor of ras 1							116.0	114.0	115.0					17																	25936261		2021	4201	6222	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25936261G>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2197G>T	17.37:g.25936261G>T	ENSP00000323178:p.Asp733Tyr					KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000319524.6_Missense_Mutation_p.D733Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y	p.D596Y	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	18	2231	+	Lung NSC(42;0.00836)		731					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1786G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.924694|4.924694	0.92319|0.92319	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.68903|.	-0.36;-0.36;-0.36|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91620|0.91620	0.7352|0.7352	H|H	0.99325|0.99325	4.515|4.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94688|0.94688	0.7871|0.7871	10|5	0.87932|.	D|.	0|.	.|.	19.0895|19.0895	0.93221|0.93221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	731;711|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	Y|I	733;711;596;596|446	ENSP00000323178:D733Y;ENSP00000438795:D711Y;ENSP00000268763:D596Y|.	ENSP00000268763:D596Y|.	D|R	+|+	1|2	0|0	KSR1|KSR1	22960388|22960388	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.981000|0.981000	0.71138|0.71138	9.724000|9.724000	0.98775|0.98775	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.537	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		46	234	1	0	1.8453e-21	1	2.07902e-21	46	234				
TAAR1	134864	broad.mit.edu	37	6	132966836	132966836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132966836C>T	ENST00000275216.1	-	1	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	103					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.D103N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	AGCATAATGTCGGTGCTTGTG	0.438																																						ENST00000275216.1																			1	Substitution - Missense(1)	p.D103N(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(307-309)Gac>Aac		trace amine associated receptor 1	Amphetamine(DB00182)						86.0	82.0	83.0					6																	132966836		2203	4299	6502	SO:0001583	missense	134864					plasma membrane		g.chr6:132966836C>T	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.307G>A	6.37:g.132966836C>T	ENSP00000275216:p.Asp103Asn						p.D103N	NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	306	-	Breast(56;0.135)		103					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.307G>A	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985590	0.93044	.	.	ENSG00000146399	ENST00000275216	T	0.19394	2.15	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.050966	0.85682	D	0.000000	T	0.49626	0.1568	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54853	-0.8231	10	0.72032	D	0.01	-15.6269	20.3396	0.98756	0.0:1.0:0.0:0.0	.	103	Q96RJ0	TAAR1_HUMAN	N	103	ENSP00000275216:D103N	ENSP00000275216:D103N	D	-	1	0	TAAR1	133008529	0.999000	0.42202	0.609000	0.28983	0.915000	0.54546	4.671000	0.61590	2.812000	0.96745	0.555000	0.69702	GAC		0.438	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		51	258	0	0	0	1	0	51	258				
LTA4H	4048	broad.mit.edu	37	12	96412999	96412999	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412999A>G	ENST00000228740.2	-	7	799	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	LTA4H_ENST00000413268.2_Silent_p.L196L|LTA4H_ENST00000552789.1_Silent_p.L196L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	220					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GACCACACCAAAGTTCTTGGG	0.348																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(658-660)Ttg>Ctg		leukotriene A4 hydrolase							101.0	100.0	100.0					12																	96412999		2203	4300	6503	SO:0001819	synonymous_variant	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96412999A>G	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.658T>C	12.37:g.96412999A>G						LTA4H_ENST00000413268.2_Silent_p.L196L|LTA4H_ENST00000552789.1_Silent_p.L196L	p.L220L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			7	799	-			220					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	ENST00000228740.2	37	c.658T>C	CCDS9059.1																																																																																				0.348	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		73	315	0	0	0	1	0	73	315				
INTS8	55656	broad.mit.edu	37	8	95869141	95869141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95869141C>T	ENST00000523731.1	+	15	2022	c.1889C>T	c.(1888-1890)gCa>gTa	p.A630V	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.A630V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	630					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)					ACAGGGCAGGCAGGAGAGAGA	0.468																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1888-1890)gCa>gTa		integrator complex subunit 8							110.0	101.0	104.0					8																	95869141		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95869141C>T	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.1889C>T	8.37:g.95869141C>T	ENSP00000430338:p.Ala630Val					INTS8_ENST00000447247.1_Missense_Mutation_p.A630V|INTS8_ENST00000520845.1_3'UTR	p.A630V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			15	2022	+	Breast(36;1.05e-06)		630					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1889C>T	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.402040|2.402040	0.42613|0.42613	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.272174|.	0.36134|.	N|.	0.002773|.	T|.	0.37019|.	0.0988|.	N|N	0.14661|0.14661	0.345|0.345	0.20821|0.20821	N|N	0.999848|0.999848	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.16289|.	0.015;0.015|.	T|.	0.29822|.	-0.9999|.	9|.	0.54805|.	T|.	0.06|.	-0.7634|-0.7634	19.7866|19.7866	0.96442|0.96442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	630;630|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	V|X	630|452	.|.	ENSP00000343274:A630V|.	A|Q	+|+	2|1	0|0	INTS8|INTS8	95938317|95938317	0.002000|0.002000	0.14202|0.14202	0.414000|0.414000	0.26521|0.26521	0.813000|0.813000	0.45954|0.45954	1.312000|1.312000	0.33574|0.33574	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.468	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		89	392	0	0	0	1	0	89	392				
CHD5	26038	broad.mit.edu	37	1	6184720	6184720	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6184720C>A	ENST00000262450.3	-	30	4495	c.4396G>T	c.(4396-4398)Gcc>Tcc	p.A1466S	CHD5_ENST00000378021.1_Splice_Site_p.A323S	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GACACATAGGCTCTGGGGTGG	0.692																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.e30-1		chromodomain helicase DNA binding protein 5							4.0	4.0	4.0					1																	6184720		2092	4104	6196	SO:0001630	splice_region_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6184720C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4395-1G>T	1.37:g.6184720C>A						CHD5_ENST00000378021.1_Splice_Site_p.A323_splice	p.A1466_splice	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	30	4495	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1466					A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	37	c.4394_splice	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	36	5.814527	0.96982	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.91996	-2.95;2.03	4.54	4.54	0.55810	Domain of unknown function DUF1086 (1);	0.000000	0.64402	D	0.000001	D	0.95639	0.8582	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.994;0.999	D	0.96293	0.9215	10	0.87932	D	0	-23.6995	17.6537	0.88172	0.0:1.0:0.0:0.0	.	1466;323	Q8TDI0;Q5TG85	CHD5_HUMAN;.	S	1466;982;323;874;874;323	ENSP00000262450:A1466S;ENSP00000367260:A323S	ENSP00000262450:A1466S	A	-	1	0	CHD5	6107307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.394000	0.79862	2.251000	0.74343	0.561000	0.74099	GCC		0.692	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	Missense_Mutation	5	15	1	0	0.014758	1	0.0148251	5	15				
LAMA3	3909	broad.mit.edu	37	18	21519246	21519246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21519246C>A	ENST00000313654.9	+	68	9163	c.8922C>A	c.(8920-8922)tgC>tgA	p.C2974*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.C1365*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2974					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAGATGCTTGCTCACCACTTC	0.542																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8920-8922)tgC>tgA		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						155.0	149.0	151.0					18																	21519246		2203	4300	6503	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21519246C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8922C>A	18.37:g.21519246C>A	ENSP00000324532:p.Cys2974*					LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.C1365*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*	p.C2974*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			68	9163	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2974					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.8922C>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	48	14.830680	0.99812	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.28	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8599	0.35251	0.1477:0.7671:0.0:0.0852	.	.	.	.	X	2974;2918;1365	.	ENSP00000269217:C1365X	C	+	3	2	LAMA3	19773244	0.399000	0.25287	0.187000	0.23214	0.067000	0.16453	0.313000	0.19415	0.728000	0.32382	-1.134000	0.01955	TGC		0.542	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		36	857	1	0	9.45814e-24	1	1.07742e-23	36	857				
MYCBP2	23077	broad.mit.edu	37	13	77779470	77779470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77779470C>T	ENST00000544440.2	-	26	3667	c.3650G>A	c.(3649-3651)cGt>cAt	p.R1217H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1255H					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)		GGCACTGAAACGTATAGCTTC	0.358																																						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.(3763-3765)cGt>cAt		MYC binding protein 2, E3 ubiquitin protein ligase							92.0	89.0	90.0					13																	77779470		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77779470C>T	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.3650G>A	13.37:g.77779470C>T	ENSP00000444596:p.Arg1217His					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R1217H	p.R1255H	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	26	4030	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1217						Missense_Mutation	SNP	ENST00000544440.2	37	c.3764G>A		.	.	.	.	.	.	.	.	.	.	C	15.96	2.987090	0.53934	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.35973	1.28;1.28;1.28	5.01	4.16	0.48862	PHR (1);	0.071017	0.64402	D	0.000020	T	0.55321	0.1913	M	0.82323	2.585	0.58432	D	0.999996	D	0.76494	0.999	P	0.53689	0.732	T	0.65701	-0.6104	10	0.87932	D	0	.	15.345	0.74330	0.0:0.8595:0.1405:0.0	.	1217	O75592	MYCB2_HUMAN	H	1217;1255;1217	ENSP00000349892:R1217H;ENSP00000384288:R1255H;ENSP00000444596:R1217H	ENSP00000349892:R1217H	R	-	2	0	MYCBP2	76677471	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.484000	0.81180	1.090000	0.41315	-0.310000	0.09108	CGT		0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		81	366	0	0	0	1	0	81	366				
WWC1	23286	broad.mit.edu	37	5	167891807	167891807	+	Missense_Mutation	SNP	C	C	T	rs527539467		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167891807C>T	ENST00000265293.4	+	21	3492	c.2990C>T	c.(2989-2991)gCg>gTg	p.A997V	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	997	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCTGCAGGCGACAAGAACC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17762	0.0		0.0	False		,,,				2504	0.001					ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2989-2991)gCg>gTg		WW and C2 domain containing 1							69.0	67.0	68.0					5																	167891807		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891807C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2990C>T	5.37:g.167891807C>T	ENSP00000265293:p.Ala997Val					WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V|WWC1_ENST00000522140.1_3'UTR	p.A997V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	21	3492	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	997			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2990C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036953	0.54896	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.51325	0.71;0.71;0.71	5.14	5.14	0.70334	.	0.060571	0.64402	D	0.000003	T	0.63651	0.2529	L	0.46819	1.47	0.58432	D	0.999991	D;B	0.89917	1.0;0.45	D;B	0.80764	0.994;0.046	T	0.63435	-0.6638	10	0.48119	T	0.1	.	18.6288	0.91352	0.0:1.0:0.0:0.0	.	1003;997	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	V	997;1003;329	ENSP00000265293:A997V;ENSP00000427772:A1003V;ENSP00000428084:A329V	ENSP00000265293:A997V	A	+	2	0	WWC1	167824385	1.000000	0.71417	0.952000	0.39060	0.064000	0.16182	4.558000	0.60789	2.405000	0.81733	0.555000	0.69702	GCG		0.612	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		54	320	0	0	0	1	0	54	320				
PPIP5K1	9677	broad.mit.edu	37	15	43873540	43873540	+	Missense_Mutation	SNP	G	G	T	rs201054366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43873540G>T	ENST00000396923.3	-	8	945	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	275					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						CAAAGCTGGAGATTTTCTAGC	0.493																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(823-825)tCt>tAt		diphosphoinositol pentakisphosphate kinase 1																																				SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43873540G>T	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.824C>A	15.37:g.43873540G>T	ENSP00000380129:p.Ser275Tyr					PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000432870.3_5'UTR	p.S275Y	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			9	1006	-			275					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.824C>A	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216593	0.79352	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.52295	0.68;0.72;1.33;0.72;0.67;0.67;0.68;1.33	4.74	4.74	0.60224	.	0.059970	0.64402	D	0.000002	T	0.77322	0.4113	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.84384	0.0551	10	0.87932	D	0	-13.8522	17.9907	0.89168	0.0:0.0:1.0:0.0	.	275;275;275;275	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	Y	275;275;275;275;275;275;275;275;275;275;276	ENSP00000371309:S275Y;ENSP00000353446:S275Y;ENSP00000353253:S275Y;ENSP00000334779:S275Y;ENSP00000380129:S275Y;ENSP00000400887:S275Y;ENSP00000371303:S275Y;ENSP00000308773:S275Y	ENSP00000304750:S275Y	S	-	2	0	PPIP5K1	41660832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.638000	0.98445	2.444000	0.82710	0.644000	0.83932	TCT		0.493	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		87	440	1	0	6.34794e-51	1	7.87186e-51	87	440				
ATP7A	538	broad.mit.edu	37	X	77289223	77289223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77289223G>T	ENST00000341514.6	+	17	3570	c.3415G>T	c.(3415-3417)Gac>Tac	p.D1139Y	ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y|ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1139					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GAATATAGAGGACAATAATAT	0.388																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(3415-3417)Gac>Tac		ATPase, Cu++ transporting, alpha polypeptide							123.0	115.0	118.0					X																	77289223		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77289223G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3415G>T	X.37:g.77289223G>T	ENSP00000345728:p.Asp1139Tyr					ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y|ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y	p.D1139Y	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			17	3570	+			1139					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3415G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608886	0.46527	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97404	-3.97;-4.37;-3.99	5.27	5.27	0.74061	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.171981	0.50627	D	0.000101	D	0.91905	0.7437	N	0.02011	-0.69	0.33534	D	0.593974	P	0.34864	0.473	B	0.42138	0.377	D	0.94682	0.7866	10	0.62326	D	0.03	-6.7771	13.8071	0.63238	0.0:0.1492:0.8508:0.0	.	1139	Q04656	ATP7A_HUMAN	Y	1061;142;1139	ENSP00000343026:D1061Y;ENSP00000343678:D142Y;ENSP00000345728:D1139Y	ENSP00000345728:D1139Y	D	+	1	0	ATP7A	77175879	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.313000	0.78978	2.311000	0.77944	0.600000	0.82982	GAC		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		82	277	1	0	3.1711e-36	1	3.79393e-36	82	277				
LNPEP	4012	broad.mit.edu	37	5	96349496	96349496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96349496A>G	ENST00000231368.5	+	12	2872	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	727					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTGACAAAGACCGAGCCAAC	0.323																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2179-2181)gAc>gGc		leucyl/cystinyl aminopeptidase							150.0	148.0	149.0					5																	96349496		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96349496A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2180A>G	5.37:g.96349496A>G	ENSP00000231368:p.Asp727Gly					LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	p.D727G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	12	2872	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	727					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2180A>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440289	0.83993	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.10099	2.91;2.91	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.13791	-1.0496	10	0.87932	D	0	.	14.618	0.68562	1.0:0.0:0.0:0.0	.	727	Q9UIQ6	LCAP_HUMAN	G	727;713	ENSP00000231368:D727G;ENSP00000379117:D713G	ENSP00000231368:D727G	D	+	2	0	LNPEP	96375252	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.791000	0.91849	1.979000	0.57680	0.528000	0.53228	GAC		0.323	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		152	647	0	0	0	1	0	152	647				
NRBP1	29959	broad.mit.edu	37	2	27664444	27664444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27664444C>T	ENST00000233557.3	+	18	2290	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379863.3_Silent_p.I494I|NRBP1_ENST00000379852.3_Silent_p.I486I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	486					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGAGAATATCCCCGAGTTGG	0.572																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1456-1458)atC>atT		nuclear receptor binding protein 1							143.0	136.0	139.0					2																	27664444		2203	4300	6503	SO:0001819	synonymous_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27664444C>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1458C>T	2.37:g.27664444C>T						NRBP1_ENST00000379852.3_Silent_p.I486I|NRBP1_ENST00000379863.3_Silent_p.I494I	p.I486I			Q9UHY1	NRBP_HUMAN			18	2290	+	Acute lymphoblastic leukemia(172;0.155)		486					B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	c.1458C>T	CCDS1753.1																																																																																				0.572	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		203	635	0	0	0	1	0	203	635				
ZNF780A	284323	broad.mit.edu	37	19	40581425	40581425	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40581425C>T	ENST00000595687.2	-	6	1133	c.924G>A	c.(922-924)aaG>aaA	p.K308K	ZNF780A_ENST00000455521.1_Silent_p.K309K|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000450241.2_Silent_p.K274K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K274N(1)|p.K309N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCCACATTCCTTACATACAA	0.388																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.K274N(1)|p.K309N(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(820-822)aaG>aaA		zinc finger protein 780A							174.0	169.0	171.0					19																	40581425		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581425C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.924G>A	19.37:g.40581425C>T						AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000595687.2_Silent_p.K308K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000455521.1_Silent_p.K309K	p.K274K			O75290	Z780A_HUMAN			6	1133	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		308					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.822G>A	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		167	690	0	0	0	1	0	167	690				
CRYGB	1419	broad.mit.edu	37	2	209010739	209010739	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209010739A>G	ENST00000260988.4	-	2	58	c.11T>C	c.(10-12)aTc>aCc	p.I4T		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	4	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GTAGAAGGTGATCTGAAAAAT	0.562																																						ENST00000260988.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14						c.e2-1		crystallin, gamma B							98.0	88.0	91.0					2																	209010739		2203	4300	6503	SO:0001630	splice_region_variant	1419				visual perception		structural constituent of eye lens	g.chr2:209010739A>G		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.10-1T>C	2.37:g.209010739A>G							p.I4_splice	NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	2	58	-			4			Beta/gamma crystallin 'Greek key' 1.		Q17RB5|Q53ST2	Splice_Site	SNP	ENST00000260988.4	37	c.9_splice	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985896	0.74589	.	.	ENSG00000182187	ENST00000260988	D	0.82255	-1.59	4.62	4.62	0.57501	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96008	0.8999	10	0.87932	D	0	.	12.2776	0.54744	1.0:0.0:0.0:0.0	.	4	P07316	CRGB_HUMAN	T	4	ENSP00000260988:I4T	ENSP00000260988:I4T	I	-	2	0	CRYGB	208718984	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.107000	0.94261	2.065000	0.61736	0.459000	0.35465	ATC		0.562	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210	Missense_Mutation	109	320	0	0	0	1	0	109	320				
AXIN2	8313	broad.mit.edu	37	17	63533929	63533929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63533929G>T	ENST00000375702.5	-	5	1333	c.1225C>A	c.(1225-1227)Ctc>Atc	p.L409I	AXIN2_ENST00000307078.5_Missense_Mutation_p.L409I			Q9Y2T1	AXIN2_HUMAN	axin 2	409	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGAGTGTGAGCTCGGAGCCC	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1225-1227)Ctc>Atc		axin 2							11.0	14.0	13.0					17																	63533929		2188	4279	6467	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63533929G>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1225C>A	17.37:g.63533929G>T	ENSP00000364854:p.Leu409Ile					AXIN2_ENST00000375702.5_Missense_Mutation_p.L409I	p.L409I	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			6	1538	-			409			Interaction with GSK3B (By similarity).		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.1225C>A		.	.	.	.	.	.	.	.	.	.	G	0.028	-1.354380	0.01256	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.83914	-1.78;-1.78	5.2	3.0	0.34707	.	1.043520	0.07559	N	0.916760	T	0.62368	0.2422	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.52139	-0.8615	10	0.14656	T	0.56	-0.7102	2.2886	0.04133	0.2055:0.1489:0.4932:0.1523	.	409;409	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	I	409	ENSP00000302625:L409I;ENSP00000364854:L409I	ENSP00000302625:L409I	L	-	1	0	AXIN2	60964391	0.946000	0.32159	0.453000	0.27007	0.032000	0.12392	1.091000	0.30915	1.201000	0.43203	0.650000	0.86243	CTC		0.617	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		11	50	1	0	3.07112e-06	1	3.16074e-06	11	50				
EXO1	9156	broad.mit.edu	37	1	242030154	242030154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242030154G>A	ENST00000366548.3	+	11	1657	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	EXO1_ENST00000518483.1_Missense_Mutation_p.S355N|EXO1_ENST00000348581.5_Missense_Mutation_p.S355N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	355	Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAAGTCATAGTTGGGATGAC	0.368								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(1063-1065)aGt>aAt	Editing and processing nucleases	exonuclease 1							109.0	103.0	105.0					1																	242030154		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242030154G>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1064G>A	1.37:g.242030154G>A	ENSP00000355506:p.Ser355Asn					EXO1_ENST00000348581.5_Missense_Mutation_p.S355N|EXO1_ENST00000518483.1_Missense_Mutation_p.S355N	p.S355N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		11	1657	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	355			Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.1064G>A	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829897	0.16749	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.38401	1.2;1.2;1.14	5.75	4.83	0.62350	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.372294	0.35525	N	0.003144	T	0.38852	0.1056	M	0.73598	2.24	0.40987	D	0.984825	B;B;B	0.16166	0.009;0.016;0.009	B;B;B	0.16722	0.007;0.016;0.006	T	0.25710	-1.0124	10	0.24483	T	0.36	0.0	12.9676	0.58494	0.0761:0.0:0.9239:0.0	.	355;355;355	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	355	ENSP00000355506:S355N;ENSP00000311873:S355N;ENSP00000430251:S355N	ENSP00000311873:S355N	S	+	2	0	EXO1	240096777	1.000000	0.71417	0.979000	0.43373	0.370000	0.29829	3.600000	0.54052	1.429000	0.47314	0.655000	0.94253	AGT		0.368	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		113	339	0	0	0	1	0	113	339				
KLHL30	377007	broad.mit.edu	37	2	239054470	239054470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239054470G>A	ENST00000409223.1	+	5	1254	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	383										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTACGTTATCGGCGGTGAGGC	0.657																																						ENST00000409223.1																			0				lung(4)	4						c.(1147-1149)Ggc>Agc		kelch-like family member 30							21.0	29.0	27.0					2																	239054470		2048	4180	6228	SO:0001583	missense	377007							g.chr2:239054470G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1147G>A	2.37:g.239054470G>A	ENSP00000386389:p.Gly383Ser					KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S	p.G383S			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	5	1254	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	383					Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.1147G>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838659	0.71373	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.98792	-5.14;-5.14	4.62	4.62	0.57501	Kelch-type beta propeller (1);	0.065440	0.64402	D	0.000010	D	0.99275	0.9747	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	16.2395	0.82399	0.0:0.0:1.0:0.0	.	383	Q0D2K2	KLH30_HUMAN	S	383;365	ENSP00000386389:G383S;ENSP00000302386:G365S	ENSP00000302386:G365S	G	+	1	0	KLHL30	238719209	1.000000	0.71417	0.096000	0.21009	0.173000	0.22820	9.781000	0.99029	2.113000	0.64589	0.542000	0.68232	GGC		0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		25	50	0	0	0	1	0	25	50				
PLEKHM1	9842	broad.mit.edu	37	17	43531235	43531235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43531235G>A	ENST00000430334.3	-	7	2116	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L572L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	661					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGGCTCCGAGAGCAGGTCTG	0.647																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1981-1983)ctC>ctT		pleckstrin homology domain containing, family M (with RUN domain) member 1							34.0	40.0	38.0					17																	43531235		2201	4297	6498	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531235G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1983C>T	17.37:g.43531235G>A						AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L572L	p.L661L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			7	2116	-	Renal(3;0.0405)		661					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.1983C>T	CCDS32671.1																																																																																				0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		94	406	0	0	0	1	0	94	406				
SLC25A30	253512	broad.mit.edu	37	13	45976437	45976437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976437C>A	ENST00000539591.1	-	5	472	c.309G>T	c.(307-309)caG>caT	p.Q103H				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	154					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)		TCCCCTCTTGCTGGTAAATGT	0.383																																						ENST00000539591.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(307-309)caG>caT		solute carrier family 25, member 30							266.0	258.0	261.0					13																	45976437		2203	4300	6503	SO:0001583	missense	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45976437C>A	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.309G>T	13.37:g.45976437C>A	ENSP00000443542:p.Gln103His						p.Q103H			Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	5	472	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	154					B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	37	c.309G>T		.	.	.	.	.	.	.	.	.	.	C	15.26	2.780874	0.49891	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.59	3.87	0.44632	Mitochondrial carrier domain (2);	0.054596	0.85682	D	0.000000	T	0.73140	0.3549	L	0.60455	1.87	0.42273	D	0.992066	B;B	0.06786	0.001;0.001	B;B	0.17433	0.018;0.018	T	0.69720	-0.5069	10	0.59425	D	0.04	-5.9333	10.8811	0.46939	0.0:0.7882:0.0:0.2118	.	154;154	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	H	154;79;103;103;79	ENSP00000429168:Q154H;ENSP00000443542:Q103H;ENSP00000429308:Q103H;ENSP00000430687:Q79H	ENSP00000429308:Q103H	Q	-	3	2	SLC25A30	44874437	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.711000	0.37930	0.837000	0.34925	-0.150000	0.13652	CAG		0.383	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736		74	467	1	0	2.13431e-38	1	2.57195e-38	74	467				
UFSP2	55325	broad.mit.edu	37	4	186339802	186339802	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186339802T>G	ENST00000264689.6	-	3	321	c.205A>C	c.(205-207)Aac>Cac	p.N69H	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	69						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGAATGGTGTTTATGTCACTG	0.398																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(205-207)Aac>Cac		UFM1-specific peptidase 2							124.0	119.0	121.0					4																	186339802		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186339802T>G	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.205A>C	4.37:g.186339802T>G	ENSP00000264689:p.Asn69His					UFSP2_ENST00000502282.1_5'UTR	p.N69H	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	3	321	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	69					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.205A>C	CCDS3842.1	.	.	.	.	.	.	.	.	.	.	T	5.020	0.189439	0.09547	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.46451	1.51;0.87	5.87	5.87	0.94306	.	0.300775	0.37136	N	0.002226	T	0.34106	0.0886	L	0.43152	1.355	0.23249	N	0.998048	B	0.29805	0.257	B	0.29176	0.099	T	0.26985	-1.0087	10	0.33940	T	0.23	-14.7842	9.8989	0.41335	0.2584:0.0:0.0:0.7416	.	69	Q9NUQ7	UFSP2_HUMAN	H	69;63	ENSP00000264689:N69H;ENSP00000423108:N63H	ENSP00000264689:N69H	N	-	1	0	UFSP2	186576796	0.989000	0.36119	0.865000	0.33974	0.052000	0.14988	2.247000	0.43151	2.242000	0.73789	0.482000	0.46254	AAC		0.398	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		43	402	0	0	0	1	0	43	402				
NDUFB4	4710	broad.mit.edu	37	3	120315332	120315332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120315332G>A	ENST00000184266.2	+	1	177	c.126G>A	c.(124-126)caG>caA	p.Q42Q	NDUFB4_ENST00000485064.1_Silent_p.Q42Q|NDUFB4_ENST00000492739.1_Silent_p.Q42Q	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	42					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		TAAGAGCCCAGCTGAAACGAG	0.632																																						ENST00000485064.1																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(124-126)caG>caA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	NADH(DB00157)						30.0	29.0	29.0					3																	120315332		2203	4296	6499	SO:0001819	synonymous_variant	4710				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:120315332G>A	AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"""Mitochondrial respiratory chain complex / Complex I"""	7699	protein-coding gene	gene with protein product	"""complex I B15 subunit"""	603840	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"""			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.126G>A	3.37:g.120315332G>A						NDUFB4_ENST00000492739.1_Silent_p.Q42Q|NDUFB4_ENST00000184266.2_Silent_p.Q42Q	p.Q42Q	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN		GBM - Glioblastoma multiforme(114;0.14)	1	158	+			42					B2RUY3|B9EJC7	Silent	SNP	ENST00000184266.2	37	c.126G>A	CCDS2999.1																																																																																				0.632	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	NM_004547		24	112	0	0	0	1	0	24	112				
ZBTB39	9880	broad.mit.edu	37	12	57397488	57397488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397488C>T	ENST00000300101.2	-	2	1299	c.1214G>A	c.(1213-1215)tGt>tAt	p.C405Y		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTTAGTTTCACACATGTCGCA	0.522																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1213-1215)tGt>tAt		zinc finger and BTB domain containing 39							90.0	78.0	82.0					12																	57397488		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397488C>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1214G>A	12.37:g.57397488C>T	ENSP00000300101:p.Cys405Tyr						p.C405Y	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1299	-			405					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1214G>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587986	0.66105	.	.	ENSG00000166860	ENST00000300101	T	0.58652	0.32	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.85036	0.0920	10	0.87932	D	0	-7.2323	17.0969	0.86637	0.0:1.0:0.0:0.0	.	405	O15060	ZBT39_HUMAN	Y	405	ENSP00000300101:C405Y	ENSP00000300101:C405Y	C	-	2	0	ZBTB39	55683755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.644000	0.89710	0.655000	0.94253	TGT		0.522	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		69	255	0	0	0	1	0	69	255				
RIC3	79608	broad.mit.edu	37	11	8159877	8159877	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8159877T>C	ENST00000309737.6	-	3	368	c.369A>G	c.(367-369)acA>acG	p.T123T	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Silent_p.T123T|RIC3_ENST00000425599.2_Silent_p.T123T|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Silent_p.T74T			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	123					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCTCTGCAGTTGTTTTCCCCT	0.433																																						ENST00000343202.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(367-369)acA>acG		RIC3 acetylcholine receptor chaperone							237.0	228.0	231.0					11																	8159877		2201	4296	6497	SO:0001819	synonymous_variant	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8159877T>C		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.369A>G	11.37:g.8159877T>C						RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Silent_p.T123T|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.T74T|RIC3_ENST00000309737.6_Silent_p.T123T	p.T123T	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	434	-			123					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Silent	SNP	ENST00000309737.6	37	c.369A>G	CCDS55742.1																																																																																				0.433	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		15	990	0	0	0	1	0	15	990				
ACAT1	38	broad.mit.edu	37	11	108018094	108018094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108018094G>A	ENST00000265838.4	+	12	1352	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	421					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGGTGCTTCTGCCATGCTAAT	0.478																																						ENST00000265838.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(1261-1263)Gcc>Acc		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						140.0	124.0	129.0					11																	108018094		2201	4298	6499	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108018094G>A	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1261G>A	11.37:g.108018094G>A	ENSP00000265838:p.Ala421Thr						p.A421T	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	12	1352	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	421					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.1261G>A	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553242	0.86127	.	.	ENSG00000075239	ENST00000265838	D	0.95238	-3.65	5.57	5.57	0.84162	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.187217	0.47852	D	0.000220	D	0.95424	0.8514	M	0.68317	2.08	0.80722	D	1	P	0.42483	0.781	P	0.47673	0.554	D	0.95388	0.8479	10	0.66056	D	0.02	-18.7742	19.9215	0.97087	0.0:0.0:1.0:0.0	.	421	P24752	THIL_HUMAN	T	421	ENSP00000265838:A421T	ENSP00000265838:A421T	A	+	1	0	ACAT1	107523304	1.000000	0.71417	0.964000	0.40570	0.960000	0.62799	3.857000	0.55972	2.785000	0.95823	0.655000	0.94253	GCC		0.478	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		63	336	0	0	0	1	0	63	336				
CLCN7	1186	broad.mit.edu	37	16	1507738	1507738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1507738G>A	ENST00000382745.4	-	8	1300	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F|CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	232					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GATCACACCGGACACTTTGAT	0.607																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(694-696)tCc>tTc		chloride channel, voltage-sensitive 7							87.0	77.0	81.0					16																	1507738		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507738G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.695C>T	16.37:g.1507738G>A	ENSP00000372193:p.Ser232Phe					CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F|CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F	p.S232F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			8	1300	-		Hepatocellular(780;0.0893)	232					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.695C>T	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335237	0.24253	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93811	-3.29;-3.29	5.39	4.41	0.53225	Chloride channel, core (2);	0.290406	0.40064	N	0.001198	T	0.72020	0.3409	N	0.00226	-1.805	0.38954	D	0.958401	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71234	-0.4653	10	0.24483	T	0.36	-21.299	6.9991	0.24799	0.1016:0.2644:0.634:0.0	.	208;232	E9PDB9;P51798	.;CLCN7_HUMAN	F	208;185;232;174	ENSP00000410907:S208F;ENSP00000372193:S232F	ENSP00000262318:S185F	S	-	2	0	CLCN7	1447739	0.882000	0.30256	0.966000	0.40874	0.836000	0.47400	1.519000	0.35888	2.521000	0.84997	0.561000	0.74099	TCC		0.607	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		74	338	0	0	0	1	0	74	338				
PEX12	5193	broad.mit.edu	37	17	33900679	33900679	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33900679C>T	ENST00000225873.4	-	0	2675				RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12						peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCAGCGATGCGATGATGAGT	0.428																																						ENST00000592381.1																			0																				116.0	101.0	106.0					17																	33900679		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr17:33900679C>T	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951		17.37:g.33900679C>T						SNORD7_ENST00000384567.1_RNA								0	382	+								B2R6M2	RNA	SNP	ENST00000225873.4	37		CCDS11296.1																																																																																				0.428	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		50	207	0	0	0	1	0	50	207				
PHC1	1911	broad.mit.edu	37	12	9089855	9089855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089855G>A	ENST00000543824.1	+	14	2893	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	PHC1_ENST00000536844.1_Missense_Mutation_p.R460H|PHC1_ENST00000433083.2_Missense_Mutation_p.R809H|PHC1_ENST00000544916.1_Missense_Mutation_p.R854H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	854					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R854H(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GCTCGCGTTCGCAGGCGTGGA	0.537																																						ENST00000433083.2																			1	Substitution - Missense(1)	p.R854H(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2425-2427)cGc>cAc		polyhomeotic homolog 1 (Drosophila)							27.0	27.0	27.0					12																	9089855		2202	4294	6496	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9089855G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2561G>A	12.37:g.9089855G>A	ENSP00000440674:p.Arg854His					PHC1_ENST00000543824.1_Missense_Mutation_p.R854H|PHC1_ENST00000544916.1_Missense_Mutation_p.R854H|PHC1_ENST00000536844.1_Missense_Mutation_p.R460H	p.R809H			P78364	PHC1_HUMAN			12	2571	+			854					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2426G>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860889	0.71834	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.55413	1.4;1.4;1.36;1.4;0.52	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	L	0.43152	1.355	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.68040	-0.5514	10	0.72032	D	0.01	-1.6997	19.1776	0.93609	0.0:0.0:1.0:0.0	.	854	P78364	PHC1_HUMAN	H	854;854;809;854;460	ENSP00000440674:R854H;ENSP00000251757:R854H;ENSP00000399194:R809H;ENSP00000437659:R854H;ENSP00000440488:R460H	ENSP00000251757:R854H	R	+	2	0	PHC1	8981122	1.000000	0.71417	0.920000	0.36463	0.964000	0.63967	4.890000	0.63178	2.624000	0.88883	0.655000	0.94253	CGC		0.537	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		31	148	0	0	0	1	0	31	148				
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	89						integral component of membrane (GO:0016021)		p.E89K(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453																																						ENST00000300182.4																			1	Substitution - Missense(1)	p.E89K(1)	lung(1)	endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						c.(265-267)Gaa>Aaa		membrane-spanning 4-domains, subfamily A, member 6E							154.0	146.0	149.0					11																	60105331		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60105331G>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.265G>A	11.37:g.60105331G>A	ENSP00000300182:p.Glu89Lys						p.E89K	NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN			2	330	+			89					Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.265G>A	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.856475	0.00558	.	.	ENSG00000166926	ENST00000300182	T	0.08634	3.07	2.03	-1.02	0.10135	.	1.042350	0.07546	N	0.914624	T	0.01489	0.0048	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	10	0.02654	T	1	.	1.9174	0.03300	0.5553:0.0:0.1792:0.2655	.	89	Q96DS6	M4A6E_HUMAN	K	89	ENSP00000300182:E89K	ENSP00000300182:E89K	E	+	1	0	MS4A6E	59861907	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.638000	0.05452	-0.445000	0.07159	-1.373000	0.01185	GAA		0.453	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			113	515	0	0	0	1	0	113	515				
ABHD12	26090	broad.mit.edu	37	20	25288673	25288673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25288673G>A	ENST00000339157.5	-	9	1068	c.796C>T	c.(796-798)Cca>Tca	p.P266S	ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	266					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						AGGGCATCTGGAGGCGTCTCT	0.463																																						ENST00000339157.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						c.(796-798)Cca>Tca		abhydrolase domain containing 12							64.0	64.0	64.0					20																	25288673		2203	4300	6503	SO:0001583	missense	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25288673G>A	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.796C>T	20.37:g.25288673G>A	ENSP00000341408:p.Pro266Ser					ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S|ABHD12_ENST00000481556.1_5'UTR	p.P266S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN			9	1068	-			266					A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	c.796C>T	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714331	0.89112	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.22945	1.98;1.93	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.74546	2.27	0.80722	D	1	P;D;D	0.89917	0.876;1.0;1.0	P;D;D	0.91635	0.646;0.999;0.988	T	0.50311	-0.8843	10	0.51188	T	0.08	-21.0005	19.2866	0.94077	0.0:0.0:1.0:0.0	.	228;266;266	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	S	266;266;228	ENSP00000365725:P266S;ENSP00000341408:P266S	ENSP00000341408:P266S	P	-	1	0	ABHD12	25236673	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.635000	0.91006	2.884000	0.98904	0.655000	0.94253	CCA		0.463	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		41	293	0	0	0	1	0	41	293				
ADAMTS20	80070	broad.mit.edu	37	12	43821235	43821235	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43821235G>T	ENST00000389420.3	-	27	3982	c.3983C>A	c.(3982-3984)gCt>gAt	p.A1328D	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A446D|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1328D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1328	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGACCACAGCCCTATGCTG	0.473																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3982-3984)gCt>gAt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							103.0	78.0	86.0					12																	43821235		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43821235G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3983C>A	12.37:g.43821235G>T	ENSP00000374071:p.Ala1328Asp					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1328D|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A446D	p.A1328D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	27	3982	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1328			TSP type-1 9.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3983C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157116	0.57259	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61040	0.14;0.64;0.64;0.14	4.72	-1.94	0.07571	.	0.744776	0.11477	N	0.560154	T	0.49932	0.1586	N	0.21282	0.65	0.38356	D	0.944463	B;P	0.38473	0.11;0.633	B;P	0.48770	0.155;0.589	T	0.50980	-0.8763	10	0.41790	T	0.15	.	9.9186	0.41450	0.6293:0.0:0.3707:0.0	.	1328;446	P59510;E9PBD5	ATS20_HUMAN;.	D	1328;458;446;1328;1328	ENSP00000374071:A1328D;ENSP00000447427:A458D;ENSP00000378911:A446D;ENSP00000448341:A1328D	ENSP00000374068:A1328D	A	-	2	0	ADAMTS20	42107502	0.999000	0.42202	0.265000	0.24526	0.885000	0.51271	2.340000	0.43974	-0.435000	0.07264	-0.312000	0.09012	GCT		0.473	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		16	145	1	0	0.000308642	1	0.000312942	16	145				
AKAP13	11214	broad.mit.edu	37	15	86076846	86076846	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86076846G>T	ENST00000394518.2	+	4	308	c.213G>T	c.(211-213)caG>caT	p.Q71H	AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71H|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	71					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAAGGTGCAGCTCTGTGCTT	0.468																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(211-213)caG>caT		A kinase (PRKA) anchor protein 13							142.0	127.0	132.0					15																	86076846		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86076846G>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.213G>T	15.37:g.86076846G>T	ENSP00000378026:p.Gln71His					AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71H|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71H	p.Q71H	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			4	308	+			71					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.213G>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460328	0.63401	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.59502	0.26;0.26	5.67	3.73	0.42828	.	.	.	.	.	T	0.42040	0.1185	N	0.08118	0	0.80722	D	1	P;P;D	0.53885	0.85;0.907;0.963	B;B;P	0.50136	0.258;0.443;0.632	T	0.39702	-0.9601	9	0.62326	D	0.03	.	6.3501	0.21370	0.1609:0.2851:0.554:0.0	.	71;71;71	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	H	71;71;70;70	ENSP00000354718:Q71H;ENSP00000378026:Q71H	ENSP00000354718:Q71H	Q	+	3	2	AKAP13	83877850	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.880000	0.28159	0.798000	0.33994	0.655000	0.94253	CAG		0.468	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		28	406	1	0	3.73148e-12	1	3.99992e-12	28	406				
SLC6A16	28968	broad.mit.edu	37	19	49812269	49812269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49812269G>T	ENST00000335875.4	-	7	1334	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	SLC6A16_ENST00000454748.3_Missense_Mutation_p.P365T|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	365					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTGGACTGGGGCATGTAGGAG	0.488																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1093-1095)Ccc>Acc		solute carrier family 6, member 16							140.0	136.0	137.0					19																	49812269		2067	4182	6249	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812269G>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1093C>A	19.37:g.49812269G>T	ENSP00000338627:p.Pro365Thr					SLC6A16_ENST00000335875.4_Missense_Mutation_p.P365T	p.P365T			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	7	1294	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	365					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1093C>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215951	0.39201	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75050	-0.9;-0.9	4.38	-7.37	0.01412	.	0.693049	0.14340	N	0.325763	T	0.51517	0.1679	L	0.39566	1.225	0.09310	N	1	P;P	0.36789	0.57;0.57	B;B	0.37943	0.261;0.261	T	0.48896	-0.8994	10	0.23891	T	0.37	.	0.833	0.01134	0.2528:0.3354:0.1588:0.2531	.	365;365	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	T	365	ENSP00000338627:P365T;ENSP00000404022:P365T	ENSP00000338627:P365T	P	-	1	0	SLC6A16	54504081	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.867000	0.04241	-1.132000	0.02907	-0.258000	0.10820	CCC		0.488	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		117	502	1	0	3.30846e-59	1	4.15322e-59	117	502				
DGCR8	54487	broad.mit.edu	37	22	20094192	20094192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20094192C>T	ENST00000351989.3	+	11	2396	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	656	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TACGTCATGGCGTGTGGCAAG	0.567																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1966-1968)gCg>gTg		DGCR8 microprocessor complex subunit							128.0	120.0	123.0					22																	20094192		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20094192C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1967C>T	22.37:g.20094192C>T	ENSP00000263209:p.Ala656Val					DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V|DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V	p.A656V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			11	2396	+	Colorectal(54;0.0993)		656			DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1967C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695684	0.88830	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.75821	-0.97;-0.97;-0.97	5.55	5.55	0.83447	Double-stranded RNA-binding (2);	0.048412	0.85682	D	0.000000	T	0.56366	0.1980	N	0.08118	0	0.52501	D	0.999953	B;P	0.37663	0.44;0.604	B;B	0.31101	0.124;0.052	T	0.65105	-0.6249	10	0.66056	D	0.02	-14.3867	18.2506	0.90002	0.0:1.0:0.0:0.0	.	623;656	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	656;623;623	ENSP00000263209:A656V;ENSP00000372488:A623V;ENSP00000384726:A623V	ENSP00000263209:A656V	A	+	2	0	DGCR8	18474192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.208000	0.77907	2.592000	0.87571	0.591000	0.81541	GCG		0.567	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			42	281	0	0	0	1	0	42	281				
RSPO3	84870	broad.mit.edu	37	6	127440424	127440424	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127440424C>T	ENST00000356698.4	+	1	676	c.87C>T	c.(85-87)cgC>cgT	p.R29R	RSPO3_ENST00000368317.3_Silent_p.R29R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	29					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GGGGAAGGCGCCAGCGAAGAA	0.532																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(85-87)cgC>cgT		R-spondin 3							154.0	168.0	163.0					6																	127440424		2203	4300	6503	SO:0001819	synonymous_variant	84870					extracellular region	heparin binding	g.chr6:127440424C>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.87C>T	6.37:g.127440424C>T						RSPO3_ENST00000368317.3_Silent_p.R29R	p.R29R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	1	676	+			29					B2RC27|Q5VTV4|Q96K87	Silent	SNP	ENST00000356698.4	37	c.87C>T	CCDS5135.1																																																																																				0.532	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		79	494	0	0	0	1	0	79	494				
KIAA0100	9703	broad.mit.edu	37	17	26943464	26943464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943464C>T	ENST00000528896.2	-	36	6295	c.6221G>A	c.(6220-6222)gGg>gAg	p.G2074E	RP11-192H23.4_ENST00000577790.1_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2074						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACACCCTTCCCAGGGCCCAG	0.512																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6220-6222)gGg>gAg		KIAA0100							83.0	82.0	82.0					17																	26943464		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26943464C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6221G>A	17.37:g.26943464C>T	ENSP00000436773:p.Gly2074Glu					KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E	p.G2074E	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			36	6295	-	Lung NSC(42;0.00431)		2074					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6221G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421244	0.83559	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.41065	1.01;1.01	6.11	6.11	0.99139	FMP27,  C-terminal (1);	0.041590	0.85682	D	0.000000	T	0.54224	0.1845	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.34453	-0.9828	10	0.05833	T	0.94	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	2074	Q14667	K0100_HUMAN	E	2074;2044;2074;1931	ENSP00000436773:G2074E;ENSP00000446443:G1931E	ENSP00000005905:G2074E	G	-	2	0	KIAA0100	23967591	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.353000	0.66034	2.906000	0.99361	0.655000	0.94253	GGG		0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		110	450	0	0	0	1	0	110	450				
STK32A	202374	broad.mit.edu	37	5	146703542	146703542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146703542G>A	ENST00000397936.3	+	5	675	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK32A_ENST00000398523.3_Silent_p.Q114Q|STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000541094.1_Silent_p.Q114Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCAACAGAACGTCCACT	0.498																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(340-342)caG>caA		serine/threonine kinase 32A							66.0	70.0	68.0					5																	146703542		2156	4290	6446	SO:0001819	synonymous_variant	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146703542G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.342G>A	5.37:g.146703542G>A						STK32A_ENST00000541094.1_Silent_p.Q114Q|STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000398523.3_Silent_p.Q114Q	p.Q114Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	675	+			114			Protein kinase.		B3KSY0	Silent	SNP	ENST00000397936.3	37	c.342G>A	CCDS47299.1																																																																																				0.498	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		11	118	0	0	0	1	0	11	118				
ZSCAN20	7579	broad.mit.edu	37	1	33960721	33960721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960721C>T	ENST00000361328.3	+	8	2930	c.2777C>T	c.(2776-2778)aCt>aTt	p.T926I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	926					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGCACCCACACTGGAGAGAAG	0.527																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2776-2778)aCt>aTt		zinc finger and SCAN domain containing 20							65.0	77.0	73.0					1																	33960721		2143	4275	6418	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960721C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2777C>T	1.37:g.33960721C>T	ENSP00000355053:p.Thr926Ile						p.T926I	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2930	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	926					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2777C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242495	0.79912	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.196572	0.36066	N	0.002802	T	0.79604	0.4474	M	0.75777	2.31	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.81172	-0.1054	9	0.72032	D	0.01	-16.54	17.2441	0.87022	0.0:1.0:0.0:0.0	.	925;926	P17040-3;P17040	.;ZSC20_HUMAN	I	926;860;860	.	ENSP00000324450:T926I	T	+	2	0	ZSCAN20	33733308	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	6.085000	0.71343	2.648000	0.89879	0.655000	0.94253	ACT		0.527	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		44	386	0	0	0	1	0	44	386				
ABCC12	94160	broad.mit.edu	37	16	48125031	48125031	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48125031C>T	ENST00000311303.3	-	23	3630	c.3285G>A	c.(3283-3285)tcG>tcA	p.S1095S	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1095						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATTTCTTACCGAAATGTATT	0.458																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.e23+1		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							142.0	140.0	141.0					16																	48125031		2201	4300	6501	SO:0001630	splice_region_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48125031C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3285+1G>A	16.37:g.48125031C>T						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.S1095_splice	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			23	3630	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1095					Q49AL2|Q8TAF0|Q8TEY2	Splice_Site	SNP	ENST00000311303.3	37	c.3285_splice	CCDS10730.1																																																																																				0.458	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	Silent	36	950	0	0	0	1	0	36	950				
MAP1LC3A	84557	broad.mit.edu	37	20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33147545G>A	ENST00000360668.3	+	4	970	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	70					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TGCAGGCGCCGCCTGCAGCTG	0.627																																						ENST00000360668.3																			0				cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						c.(208-210)cGc>cAc		microtubule-associated protein 1 light chain 3 alpha							31.0	40.0	37.0					20																	33147545		2195	4294	6489	SO:0001583	missense	84557				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	g.chr20:33147545G>A		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.209G>A	20.37:g.33147545G>A	ENSP00000353886:p.Arg70His					MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H|MAP1LC3A_ENST00000476428.1_3'UTR	p.R70H			Q9H492	MLP3A_HUMAN			4	970	+			70					E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	c.209G>A	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479684	0.84747	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.60797	0.16;0.16;0.16	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.72118	2.19	0.80722	D	1	B;D	0.76494	0.327;0.999	B;P	0.61477	0.187;0.889	T	0.76852	-0.2806	10	0.66056	D	0.02	-7.2633	18.3968	0.90502	0.0:0.0:1.0:0.0	.	70;74	Q9H492;Q9H492-2	MLP3A_HUMAN;.	H	74;70;70	ENSP00000363970:R74H;ENSP00000353886:R70H;ENSP00000380821:R70H	ENSP00000353886:R70H	R	+	2	0	MAP1LC3A	32611206	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.774000	0.98992	2.434000	0.82447	0.313000	0.20887	CGC		0.627	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		118	465	0	0	0	1	0	118	465				
GRB10	2887	broad.mit.edu	37	7	50778592	50778592	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50778592C>T	ENST00000401949.1	-	5	521				GRB10_ENST00000406641.1_Intron|GRB10_ENST00000403097.1_Missense_Mutation_p.G5S|GRB10_ENST00000402497.1_Intron|GRB10_ENST00000398812.2_Intron|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000407526.1_Intron|GRB10_ENST00000402578.1_Intron|GRB10_ENST00000439599.1_Missense_Mutation_p.G5S|GRB10_ENST00000335866.3_Intron			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10						insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AACAGAGGGCCGGCAGCTTGC	0.498									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(13-15)Ggc>Agc		growth factor receptor-bound protein 10							201.0	191.0	194.0					7																	50778592		876	1991	2867	SO:0001627	intron_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50778592C>T		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.52-6987G>A	7.37:g.50778592C>T						GRB10_ENST00000357271.5_Intron|GRB10_ENST00000401949.1_Intron|GRB10_ENST00000335866.3_Intron|GRB10_ENST00000402578.1_Intron|GRB10_ENST00000406641.1_Intron|GRB10_ENST00000398812.2_Intron|GRB10_ENST00000407526.1_Intron|GRB10_ENST00000439599.1_Missense_Mutation_p.G5S|GRB10_ENST00000402497.1_Intron	p.G5S			Q13322	GRB10_HUMAN			3	793	-	Glioma(55;0.08)|all_neural(89;0.245)		0					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.13G>A	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	0.951	-0.706278	0.03255	.	.	ENSG00000106070	ENST00000439599;ENST00000403097;ENST00000439044	T;T;T	0.81078	-1.45;-1.45;-0.18	1.21	-2.43	0.06522	.	.	.	.	.	T	0.62270	0.2414	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	8	0.25106	T	0.35	.	3.4591	0.07526	0.2092:0.4526:0.0:0.3381	.	5	Q13322-4	.	S	5	ENSP00000406716:G5S;ENSP00000385544:G5S;ENSP00000413023:G5S	ENSP00000385544:G5S	G	-	1	0	GRB10	50746086	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.804000	0.01738	-2.095000	0.00853	-1.151000	0.01829	GGC		0.498	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			84	552	0	0	0	1	0	84	552				
DIDO1	11083	broad.mit.edu	37	20	61541345	61541345	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61541345T>A	ENST00000266070.4	-	4	1192	c.867A>T	c.(865-867)gaA>gaT	p.E289D	DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	289					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAACCATTCTTCACAGCGGT	0.428																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(865-867)gaA>gaT		death inducer-obliterator 1							68.0	68.0	68.0					20																	61541345		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541345T>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.867A>T	20.37:g.61541345T>A	ENSP00000266070:p.Glu289Asp					DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D	p.E289D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			4	1192	-	Breast(26;5.68e-08)		289					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.867A>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993549	0.54041	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.54	0.131	0.14755	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44097	D	0.000481	T	0.46541	0.1398	L	0.31207	0.915	0.49798	D	0.999824	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.982;0.982;0.975;0.994	T	0.19647	-1.0299	10	0.38643	T	0.18	-43.9968	11.2889	0.49239	0.0:0.4749:0.0:0.5251	.	289;289;289;289	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	D	289	ENSP00000266070:E289D;ENSP00000378752:E289D;ENSP00000378749:E289D;ENSP00000378744:E289D;ENSP00000359397:E289D;ENSP00000359394:E289D;ENSP00000346692:E289D;ENSP00000359391:E289D;ENSP00000266071:E289D	ENSP00000266070:E289D	E	-	3	2	DIDO1	61011790	0.845000	0.29573	0.996000	0.52242	0.145000	0.21501	-0.014000	0.12656	-0.161000	0.10983	-0.366000	0.07423	GAA		0.428	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		87	303	0	0	0	1	0	87	303				
DNAAF1	123872	broad.mit.edu	37	16	84183927	84183927	+	Missense_Mutation	SNP	C	C	T	rs375812500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84183927C>T	ENST00000378553.5	+	3	456	c.332C>T	c.(331-333)aCg>aTg	p.T111M	DNAAF1_ENST00000334315.5_Missense_Mutation_p.T111M	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	111			Missing (in CILD13). {ECO:0000269|PubMed:19944405}.		axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAATGATACGCTGTATTTA	0.378																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(331-333)aCg>aTg		dynein, axonemal, assembly factor 1		C	MET/THR	0,4400		0,0,2200	82.0	78.0	79.0		332	3.0	0.0	16		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAAF1	NM_178452.4	81	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	111/726	84183927	1,12999	2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84183927C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.332C>T	16.37:g.84183927C>T	ENSP00000367815:p.Thr111Met					DNAAF1_ENST00000334315.5_Missense_Mutation_p.T111M	p.T111M	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			3	456	+			111		Missing (in CILD13).			B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.332C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066267	0.36470	0.0	1.16E-4	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.37584	1.19;1.67	5.13	3.05	0.35203	.	0.124408	0.53938	D	0.000049	T	0.51126	0.1656	M	0.62154	1.92	0.25950	N	0.982762	D	0.76494	0.999	D	0.67103	0.949	T	0.37384	-0.9708	10	0.72032	D	0.01	-8.0059	9.2501	0.37549	0.1449:0.7794:0.0:0.0758	.	111	Q8NEP3	DAAF1_HUMAN	M	111	ENSP00000334593:T111M;ENSP00000367815:T111M	ENSP00000334593:T111M	T	+	2	0	DNAAF1	82741428	0.591000	0.26824	0.029000	0.17559	0.123000	0.20343	2.411000	0.44600	1.167000	0.42706	0.591000	0.81541	ACG		0.378	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		17	361	0	0	0	1	0	17	361				
PZP	5858	broad.mit.edu	37	12	9354925	9354925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9354925C>T	ENST00000261336.2	-	4	498	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	157					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGTTCATTTCGAGGGCGAAA	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(469-471)cGa>cAa		pregnancy-zone protein							89.0	77.0	81.0					12																	9354925		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9354925C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.470G>A	12.37:g.9354925C>T	ENSP00000261336:p.Arg157Gln					PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	p.R157Q	NM_002864.2	NP_002855.2					4	498	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.470G>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562161	0.27915	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.73152	-0.72;-0.72	2.44	-2.9	0.05648	Alpha-2-macroglobulin, N-terminal (1);	0.621973	0.12652	U	0.450358	T	0.32971	0.0847	N	0.00926	-1.1	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.09377	0.0;0.004	T	0.19844	-1.0293	10	0.51188	T	0.08	.	3.776	0.08660	0.2532:0.449:0.0:0.2979	.	26;157	P20742-2;P20742	.;PZP_HUMAN	Q	157;26	ENSP00000261336:R157Q;ENSP00000371427:R26Q	ENSP00000261336:R157Q	R	-	2	0	PZP	9246192	0.000000	0.05858	0.022000	0.16811	0.468000	0.32798	0.425000	0.21346	-0.704000	0.05042	-0.691000	0.03719	CGA		0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		27	127	0	0	0	1	0	27	127				
KIF2B	84643	broad.mit.edu	37	17	51900373	51900373	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900373C>A	ENST00000268919.4	+	0	135					NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCGCTCCCTGATACCTC	0.612																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104								kinesin family member 2B							31.0	30.0	30.0					17																	51900373		2203	4300	6503			84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900373C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756		17.37:g.51900373C>A								NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			0	135	+								Q96MA2|Q9BXG6	Translation_Start_Site	SNP	ENST00000268919.4	37		CCDS32685.1																																																																																				0.612	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		29	111	1	0	7.38237e-10	1	7.79401e-10	29	111				
ZYG11B	79699	broad.mit.edu	37	1	53237304	53237304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53237304C>T	ENST00000294353.6	+	3	954	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	270										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCTTGTTTCTCTGGATGTT	0.393																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(808-810)tCt>tTt		zyg-11 family member B, cell cycle regulator							87.0	80.0	82.0					1																	53237304		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53237304C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.809C>T	1.37:g.53237304C>T	ENSP00000294353:p.Ser270Phe					ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F	p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			3	954	+			270					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.809C>T	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431254	0.83776	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.02197	4.4;4.4;4.4	5.26	5.26	0.73747	Armadillo-type fold (1);	0.099216	0.64402	D	0.000001	T	0.09686	0.0238	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.98;0.992	T	0.44003	-0.9356	10	0.07813	T	0.8	.	19.1243	0.93376	0.0:1.0:0.0:0.0	.	270;270	B4DK95;Q9C0D3	.;ZY11B_HUMAN	F	270	ENSP00000400522:S270F;ENSP00000441315:S270F;ENSP00000294353:S270F	ENSP00000294353:S270F	S	+	2	0	ZYG11B	53009892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.532000	0.81985	2.741000	0.93983	0.650000	0.86243	TCT		0.393	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		69	241	0	0	0	1	0	69	241				
SUSD4	55061	broad.mit.edu	37	1	223408411	223408411	+	Intron	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223408411A>C	ENST00000343846.3	-	5	1358				SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000344029.6_Silent_p.L252L|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000454695.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTGGGAAATAAAGGACAGGGA	0.403																																						ENST00000344029.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(754-756)ctT>ctG		sushi domain containing 4							96.0	89.0	91.0					1																	223408411		2203	4300	6503	SO:0001627	intron_variant	55061					integral to membrane		g.chr1:223408411A>C	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5681T>G	1.37:g.223408411A>C						SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000366878.4_Intron	p.L252L	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	6	901	-			0			Sushi 4.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.756T>G	CCDS41471.1																																																																																				0.403	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		70	224	0	0	0	1	0	70	224				
CACNA1A	773	broad.mit.edu	37	19	13419063	13419063	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13419063T>C	ENST00000360228.5	-	14	1783	c.1784A>G	c.(1783-1785)tAc>tGc	p.Y595C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	596					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATGCCCAGTACCTGCCGAC	0.582																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1783-1785)tAc>tGc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						55.0	59.0	58.0					19																	13419063		2112	4244	6356	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13419063T>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1784A>G	19.37:g.13419063T>C	ENSP00000353362:p.Tyr595Cys					CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	p.Y595C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		14	1783	-			596					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1784A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221312	0.58560	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98531	-4.98	5.12	5.12	0.69794	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99121	0.9697	M	0.92555	3.32	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.99402	1.0928	10	0.87932	D	0	.	13.9098	0.63860	0.0:0.0:0.0:1.0	.	596;596;595	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	595;596;596;596	ENSP00000353362:Y595C	ENSP00000317661:Y596C	Y	-	2	0	CACNA1A	13280063	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	1.923000	0.55706	0.533000	0.62120	TAC		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		23	109	0	0	0	1	0	23	109				
SULT6B1	391365	broad.mit.edu	37	2	37410602	37410602	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37410602T>G	ENST00000535679.1	-	3	367	c.368A>C	c.(367-369)aAa>aCa	p.K123T	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T|SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	123						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CCCAGGTAATTTGTCATAGTG	0.358																																						ENST00000535679.1																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(367-369)aAa>aCa		sulfotransferase family, cytosolic, 6B, member 1							134.0	132.0	133.0					2																	37410602		2203	4300	6503	SO:0001583	missense	391365					cytoplasm	sulfotransferase activity	g.chr2:37410602T>G	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.368A>C	2.37:g.37410602T>G	ENSP00000444081:p.Lys123Thr					SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T|SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T	p.K123T			Q6IMI4	ST6B1_HUMAN			3	367	-		all_hematologic(82;0.248)	123					B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.368A>C		.	.	.	.	.	.	.	.	.	.	T	11.41	1.630608	0.28978	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.10960	2.82;2.82;2.82	4.73	3.59	0.41128	Sulfotransferase domain (1);	0.363897	0.29198	N	0.012846	T	0.11922	0.0290	L	0.39147	1.195	0.27889	N	0.939396	P	0.34615	0.459	B	0.42959	0.403	T	0.15292	-1.0442	10	0.22706	T	0.39	.	9.2246	0.37398	0.0:0.0873:0.0:0.9127	.	123	Q6IMI4	ST6B1_HUMAN	T	123;85;85	ENSP00000444081:K123T;ENSP00000260637:K85T;ENSP00000384950:K85T	ENSP00000260637:K85T	K	-	2	0	SULT6B1	37264106	0.768000	0.28519	0.991000	0.47740	0.980000	0.70556	0.641000	0.24720	0.843000	0.35070	0.477000	0.44152	AAA		0.358	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		146	340	0	0	0	1	0	146	340				
LARP1B	55132	broad.mit.edu	37	4	129012165	129012165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129012165G>A	ENST00000326639.6	+	6	579	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	123	Arg-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R123L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGTTGGAAGCGAGATAGAGAA	0.373																																						ENST00000326639.6																			2	Substitution - Missense(2)	p.R123L(2)	lung(2)	endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(367-369)cGa>cAa		La ribonucleoprotein domain family, member 1B							81.0	85.0	83.0					4																	129012165		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129012165G>A		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.368G>A	4.37:g.129012165G>A	ENSP00000321997:p.Arg123Gln					LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR	p.R123Q	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			6	579	+			123			Arg-rich.		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.368G>A	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402398	0.25291	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T;T;T	0.46063	1.93;1.48;1.46;0.9;0.88;1.9;1.9;1.49	3.85	3.01	0.34805	.	0.250440	0.35936	N	0.002887	T	0.37348	0.1000	L	0.53249	1.67	0.80722	D	1	P;D;B;B	0.60575	0.459;0.988;0.057;0.116	B;P;B;B	0.48227	0.014;0.571;0.011;0.008	T	0.22730	-1.0208	10	0.13108	T	0.6	.	6.9733	0.24660	0.0895:0.0:0.7395:0.171	.	123;123;123;123	Q659C4;G3XAJ5;Q659C4-3;G3V0E9	LAR1B_HUMAN;.;.;.	Q	123;123;76;123;123;76;123;123	ENSP00000321997:R123Q;ENSP00000422850:R123Q;ENSP00000427281:R76Q;ENSP00000377829:R123Q;ENSP00000390395:R123Q;ENSP00000264584:R76Q;ENSP00000396521:R123Q;ENSP00000403586:R123Q	ENSP00000264584:R76Q	R	+	2	0	LARP1B	129231615	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	3.600000	0.54052	0.963000	0.38082	-0.237000	0.12165	CGA		0.373	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		70	311	0	0	0	1	0	70	311				
SLIT1	6585	broad.mit.edu	37	10	98760969	98760969	+	Missense_Mutation	SNP	C	C	T	rs369124797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98760969C>T	ENST00000266058.4	-	37	4750	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1502	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGCTTCAGCCGAAGGCCCTG	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17661	0.0		0.0	False		,,,				2504	0.0					ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4504-4506)cGg>cAg		slit homolog 1 (Drosophila)		C	GLN/ARG	0,4406		0,0,2203	71.0	77.0	75.0		4505	4.8	1.0	10		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLIT1	NM_003061.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1502/1535	98760969	1,13005	2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98760969C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4505G>A	10.37:g.98760969C>T	ENSP00000266058:p.Arg1502Gln					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S	p.R1502Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4750	-		Colorectal(252;0.162)	1502			CTCK.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4505G>A	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.689858|4.689858	0.88735|0.88735	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187122|ENSG00000187122	ENST00000371070|ENST00000266058	T|D	0.80824|0.82081	-1.42|-1.57	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Cystine knot, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90041|0.90041	0.6890|0.6890	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.89950|0.89950	0.4079|0.4079	7|10	0.87932|0.48119	D|T	0|0.1	.|.	18.0843|18.0843	0.89453|0.89453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1502	.|O75093	.|SLIT1_HUMAN	S|Q	1461|1502	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	G|R	-|-	1|2	0|0	SLIT1|SLIT1	98750959|98750959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.809000|5.809000	0.69172|0.69172	2.498000|2.498000	0.84270|0.84270	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		158	693	0	0	0	1	0	158	693				
FAT1	2195	broad.mit.edu	37	4	187538356	187538356	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187538356C>A	ENST00000441802.2	-	11	9088		c.e11-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATCCCCTCCTATTAAATCA	0.313										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.e11-1		FAT atypical cadherin 1							78.0	70.0	72.0					4																	187538356		1792	4069	5861	SO:0001630	splice_region_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538356C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8879-1G>T	4.37:g.187538356C>A		HNSCC(5;0.00058)						NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			11	9088	-									Splice_Site	SNP	ENST00000441802.2	37		CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533090	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4566	0.87609	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187775350	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	7.574000	0.82434	2.427000	0.82271	0.557000	0.71058	.		0.313	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	19	121	1	0	1.56452e-12	1	1.68123e-12	19	121				
KCNB1	3745	broad.mit.edu	37	20	47991499	47991499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47991499C>T	ENST00000371741.4	-	2	764	c.598G>A	c.(598-600)Gtc>Atc	p.V200I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	200					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GTGGAGAGGACGATGAACATG	0.522																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(598-600)Gtc>Atc		potassium voltage-gated channel, Shab-related subfamily, member 1							114.0	94.0	100.0					20																	47991499		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991499C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.598G>A	20.37:g.47991499C>T	ENSP00000360806:p.Val200Ile						p.V200I	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	764	-			200					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.598G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125325	0.37533	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97378	-4.36	5.87	5.87	0.94306	.	0.123534	0.53938	N	0.000050	D	0.93216	0.7839	N	0.26042	0.785	0.58432	D	0.999997	P	0.40266	0.71	B	0.32211	0.142	D	0.92691	0.6166	10	0.35671	T	0.21	.	18.7962	0.91995	0.0:1.0:0.0:0.0	.	200	Q14721	KCNB1_HUMAN	I	200;155	ENSP00000360806:V200I	ENSP00000360806:V200I	V	-	1	0	KCNB1	47424906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.945000	0.63568	2.785000	0.95823	0.655000	0.94253	GTC		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		39	158	0	0	0	1	0	39	158				
INF2	64423	broad.mit.edu	37	14	105179212	105179212	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179212C>T	ENST00000392634.4	+	18	2770	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	INF2_ENST00000330634.7_Silent_p.I886I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	886	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTGAGGCCATCGAGCAGAAGC	0.652																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(2656-2658)atC>atT		inverted formin, FH2 and WH2 domain containing							35.0	39.0	38.0					14																	105179212		2075	4210	6285	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105179212C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2658C>T	14.37:g.105179212C>T						INF2_ENST00000330634.7_Silent_p.I886I	p.I886I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	18	2770	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	886			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.2658C>T	CCDS9989.2																																																																																				0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		36	196	0	0	0	1	0	36	196				
ZMAT5	55954	broad.mit.edu	37	22	30144499	30144499	+	Missense_Mutation	SNP	C	C	T	rs540359346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30144499C>T	ENST00000344318.3	-	2	151	c.35G>A	c.(34-36)cGc>cAc	p.R12H	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R12H	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	12					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGGAAGGAGCGGTCGCAGTA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18808	0.001		0.0	False		,,,				2504	0.0					ENST00000397781.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(34-36)cGc>cAc		zinc finger, matrin-type 5							154.0	124.0	134.0					22																	30144499		2203	4300	6503	SO:0001583	missense	55954				mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding	g.chr22:30144499C>T		CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	28046	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.35G>A	22.37:g.30144499C>T	ENSP00000344241:p.Arg12His					ZMAT5_ENST00000344318.3_Missense_Mutation_p.R12H	p.R12H	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)		3	285	-			12					A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	37	c.35G>A	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320312	0.95682	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.36	5.36	0.76844	Zinc finger, U1-C type (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81127	-0.1074	9	0.72032	D	0.01	-32.7094	16.2369	0.82380	0.0:1.0:0.0:0.0	.	12	Q9UDW3	ZMAT5_HUMAN	H	12	.	ENSP00000344241:R12H	R	-	2	0	ZMAT5	28474499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.664000	0.68045	2.518000	0.84900	0.511000	0.50034	CGC		0.567	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103		27	283	0	0	0	1	0	27	283				
MARK3	4140	broad.mit.edu	37	14	103958353	103958353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103958353C>A	ENST00000429436.2	+	15	2336	c.1826C>A	c.(1825-1827)aCt>aAt	p.T609N	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000416682.2_Missense_Mutation_p.T632N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N|MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000303622.9_Missense_Mutation_p.T609N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	609						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTAAATTAACTTCAAAACTC	0.463																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1825-1827)aCt>aAt		MAP/microtubule affinity-regulating kinase 3							51.0	48.0	49.0					14																	103958353		1893	4110	6003	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103958353C>A	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1826C>A	14.37:g.103958353C>A	ENSP00000411397:p.Thr609Asn					MARK3_ENST00000303622.9_Missense_Mutation_p.T609N|MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000416682.2_Missense_Mutation_p.T632N	p.T609N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		15	2336	+		Melanoma(154;0.155)	609					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1826C>A	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.849609|4.849609	0.91277|0.91277	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	.|T;T;T;T;T;T;T;T	.|0.57107	.|0.42;0.42;0.95;0.42;0.95;0.95;0.42;0.42	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.042880	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;P;B;B;B;D;P;B	.|0.71674	.|0.961;0.63;0.105;0.015;0.273;0.998;0.861;0.039	.|P;B;B;B;B;D;P;B	.|0.78314	.|0.838;0.41;0.099;0.132;0.23;0.991;0.591;0.099	T|T	0.77638|0.77638	-0.2513|-0.2513	5|10	.|0.54805	.|T	.|0.06	.|.	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|616;196;632;593;609;530;609;609	.|P27448-7;A2SY06;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;.;MARK3_HUMAN;.;.;.	I|N	361|632;310;530;632;609;609;593;609;196	.|ENSP00000335347:T632N;ENSP00000402104:T530N;ENSP00000408092:T632N;ENSP00000411397:T609N;ENSP00000303698:T609N;ENSP00000216288:T593N;ENSP00000450772:T609N;ENSP00000451623:T196N	.|ENSP00000216288:T609N	L|T	+|+	1|2	0|0	MARK3|MARK3	103028106|103028106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.485000|7.485000	0.81204|0.81204	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.463	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		49	201	1	0	4.86159e-25	1	5.57236e-25	49	201				
ALDH5A1	7915	broad.mit.edu	37	6	24515440	24515440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24515440C>T	ENST00000357578.3	+	5	917	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	258					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CAATGTTATTCCCTGTTCTCG	0.403																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(772-774)Ccc>Tcc		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						143.0	130.0	134.0					6																	24515440		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24515440C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.772C>T	6.37:g.24515440C>T	ENSP00000350191:p.Pro258Ser					ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S	p.P258S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			5	917	+			258					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.772C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107257	0.56291	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.33	5.33	0.75918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	L	0.28054	0.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.969	T	0.79065	-0.1956	10	0.72032	D	0.01	-12.4064	19.2129	0.93765	0.0:1.0:0.0:0.0	.	258;271	P51649;G5E949	SSDH_HUMAN;.	S	258;170;230;271	ENSP00000350191:P258S;ENSP00000438193:P170S;ENSP00000417687:P230S;ENSP00000314649:P271S	ENSP00000314649:P271S	P	+	1	0	ALDH5A1	24623419	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	6.635000	0.74295	2.778000	0.95560	0.591000	0.81541	CCC		0.403	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			87	470	0	0	0	1	0	87	470				
AFMID	125061	broad.mit.edu	37	17	76200768	76200768	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76200768C>T	ENST00000327898.5	+	5	349	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000409257.5_Silent_p.L114L|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGTCCACCCGCTGACGGCACA	0.592																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(340-342)Ctg>Ttg		arylformamidase							97.0	69.0	78.0					17																	76200768		2203	4300	6503	SO:0001819	synonymous_variant	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76200768C>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.340C>T	17.37:g.76200768C>T						AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Silent_p.L114L	p.L114L	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		5	394	+			114						Silent	SNP	ENST00000327898.5	37	c.340C>T	CCDS45801.1																																																																																				0.592	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		28	200	0	0	0	1	0	28	200				
ITSN1	6453	broad.mit.edu	37	21	35191585	35191585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35191585C>T	ENST00000381318.3	+	24	3262	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	992					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAGTCTAAAGCGAGTAGCCTC	0.423																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2974-2976)Cga>Tga		intersectin 1 (SH3 domain protein)							54.0	57.0	56.0					21																	35191585		2203	4300	6503	SO:0001587	stop_gained	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35191585C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2974C>T	21.37:g.35191585C>T	ENSP00000370719:p.Arg992*					ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*	p.R992*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			24	3262	+			992					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Nonsense_Mutation	SNP	ENST00000381318.3	37	c.2974C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	44	10.875900	0.99482	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	.	.	.	5.56	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4925	0.55907	0.7237:0.2763:0.0:0.0	.	.	.	.	X	950;992;992;992;992;987;987;987;992;987;987;987	.	ENSP00000370685:R992X	R	+	1	2	ITSN1	34113455	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	2.377000	0.44300	0.384000	0.24942	-0.500000	0.04577	CGA		0.423	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		20	201	0	0	0	1	0	20	201				
ZNF233	353355	broad.mit.edu	37	19	44778193	44778193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44778193C>T	ENST00000391958.2	+	5	1507	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.G442G|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTGATAAGGGCTTCAGTAAGG	0.418																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1378-1380)ggC>ggT		zinc finger protein 233							62.0	72.0	69.0					19																	44778193		2190	4300	6490	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778193C>T	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1380C>T	19.37:g.44778193C>T						ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.G442G|ZNF233_ENST00000592581.1_3'UTR	p.G460G	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1507	+		Prostate(69;0.0435)|all_neural(266;0.226)	460					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.1380C>T	CCDS33047.1																																																																																				0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		82	344	0	0	0	1	0	82	344				
NKTR	4820	broad.mit.edu	37	3	42685488	42685488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42685488C>T	ENST00000232978.8	+	16	4482	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1432					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTATAATCGGCGGTCCAGGTG	0.527																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(4294-4296)Cgg>Tgg		natural killer-tumor recognition sequence							113.0	95.0	101.0					3																	42685488		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42685488C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4294C>T	3.37:g.42685488C>T	ENSP00000232978:p.Arg1432Trp					RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.R1432W	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	16	4482	+			1432						Missense_Mutation	SNP	ENST00000232978.8	37	c.4294C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293489	0.60086	.	.	ENSG00000114857	ENST00000232978	T	0.23950	1.88	5.52	4.64	0.57946	.	0.060738	0.64402	N	0.000004	T	0.26085	0.0636	M	0.72894	2.215	0.80722	D	1	P;P	0.41710	0.76;0.647	B;B	0.34873	0.191;0.048	T	0.09796	-1.0658	10	0.87932	D	0	-3.2097	9.981	0.41813	0.1459:0.7803:0.0:0.0738	.	1132;1432	Q6M1B8;P30414	.;NKTR_HUMAN	W	1432	ENSP00000232978:R1432W	ENSP00000232978:R1432W	R	+	1	2	NKTR	42660492	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.085000	0.30840	1.341000	0.45600	0.655000	0.94253	CGG		0.527	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		24	164	0	0	0	1	0	24	164				
ZNF71	58491	broad.mit.edu	37	19	57133900	57133900	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133900C>T	ENST00000328070.6	+	3	1479	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCGGCGAGTGCGGCAAGGCCT	0.632																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1243-1245)tgC>tgT		zinc finger protein 71							85.0	71.0	76.0					19																	57133900		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133900C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1245C>T	19.37:g.57133900C>T							p.C415C	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1479	+			415					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1245C>T	CCDS12947.1																																																																																				0.632	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		68	323	0	0	0	1	0	68	323				
LRIG2	9860	broad.mit.edu	37	1	113657135	113657135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113657135C>A	ENST00000361127.5	+	15	2365	c.2167C>A	c.(2167-2169)Cct>Act	p.P723T	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	723	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGGGAGTCCTGCCCCTCG	0.483																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2167-2169)Cct>Act		leucine-rich repeats and immunoglobulin-like domains 2							99.0	91.0	93.0					1																	113657135		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657135C>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2167C>A	1.37:g.113657135C>A	ENSP00000355396:p.Pro723Thr					LRIG2_ENST00000492207.1_3'UTR	p.P723T	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2365	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	723			Ig-like C2-type 3.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2167C>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617751	0.87359	.	.	ENSG00000198799	ENST00000361127	T	0.74315	-0.83	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93558	0.6892	10	0.87932	D	0	.	18.9455	0.92621	0.0:1.0:0.0:0.0	.	723	O94898	LRIG2_HUMAN	T	723	ENSP00000355396:P723T	ENSP00000355396:P723T	P	+	1	0	LRIG2	113458658	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.818000	0.86416	2.461000	0.83175	0.561000	0.74099	CCT		0.483	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		29	286	1	0	2.12542e-12	1	2.28249e-12	29	286				
IRX2	153572	broad.mit.edu	37	5	2749548	2749548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749548G>A	ENST00000382611.6	-	2	851	c.603C>T	c.(601-603)gaC>gaT	p.D201D	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.D201D|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	201					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGACTCTCGTCCTTGCTTC	0.652																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(601-603)gaC>gaT		iroquois homeobox 2							101.0	93.0	96.0					5																	2749548		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749548G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.603C>T	5.37:g.2749548G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D201D	p.D201D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	851	-			201					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.603C>T	CCDS3868.1																																																																																				0.652	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			54	280	0	0	0	1	0	54	280				
MYH10	4628	broad.mit.edu	37	17	8445487	8445487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8445487C>T	ENST00000269243.4	-	13	1651	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	MYH10_ENST00000379980.4_Missense_Mutation_p.E521K|MYH10_ENST00000360416.3_Missense_Mutation_p.E515K|MYH10_ENST00000396239.1_Missense_Mutation_p.E505K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	505	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGTTCCACTCGATGCCTTCG	0.473																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1543-1545)Gag>Aag		myosin, heavy chain 10, non-muscle							168.0	143.0	151.0					17																	8445487		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8445487C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1513G>A	17.37:g.8445487C>T	ENSP00000269243:p.Glu505Lys					MYH10_ENST00000269243.4_Missense_Mutation_p.E505K|MYH10_ENST00000396239.1_Missense_Mutation_p.E505K|MYH10_ENST00000379980.4_Missense_Mutation_p.E521K	p.E515K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			14	1681	-			505			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1543G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876551	0.97055	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90614	0.7057	M	0.69358	2.11	0.80722	D	1	P;P;P	0.51147	0.906;0.942;0.906	P;P;P	0.52598	0.619;0.703;0.619	D	0.91663	0.5344	10	0.87932	D	0	.	18.7716	0.91894	0.0:1.0:0.0:0.0	.	514;515;505	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	505;515;505;521	ENSP00000269243:E505K;ENSP00000353590:E515K;ENSP00000379539:E505K;ENSP00000369315:E521K	ENSP00000269243:E505K	E	-	1	0	MYH10	8386212	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.735000	0.93741	0.563000	0.77884	GAG		0.473	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			69	305	0	0	0	1	0	69	305				
CCDC136	64753	broad.mit.edu	37	7	128457910	128457910	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128457910C>T	ENST00000297788.4	+	17	3829	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000464832.1_Silent_p.S446S|CCDC136_ENST00000487361.1_Silent_p.S515S	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1154						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGACGTCGTCCTAATGCAGGT	0.577																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3460-3462)tcC>tcT		coiled-coil domain containing 136							209.0	209.0	209.0					7																	128457910		2116	4233	6349	SO:0001819	synonymous_variant	64753					integral to membrane	protein binding	g.chr7:128457910C>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3462C>T	7.37:g.128457910C>T						CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Silent_p.S446S|CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000487361.1_Silent_p.S515S	p.S1154S	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			17	3829	+			1154					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	c.3462C>T	CCDS47704.1																																																																																				0.577	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		107	617	0	0	0	1	0	107	617				
PRSS12	8492	broad.mit.edu	37	4	119200407	119200407	+	IGR	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119200407A>G	ENST00000296498.3	-	0	4809				SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)						exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGAAGAGCATATCCTTGTTTA	0.438																																						ENST00000384096.1																			0																				129.0	122.0	124.0					4																	119200407		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr4:119200407A>G	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166		4.37:g.119200407A>G								NR_002963.1						0	63	+								Q9UP16	RNA	SNP	ENST00000296498.3	37		CCDS3709.1																																																																																				0.438	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			80	363	0	0	0	1	0	80	363				
RYR3	6263	broad.mit.edu	37	15	34137155	34137155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137155C>A	ENST00000389232.4	+	93	13459	c.13389C>A	c.(13387-13389)ttC>ttA	p.F4463L	RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4463					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGATGGTATTCTTTGTCCTTC	0.488																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13387-13389)ttC>ttA		ryanodine receptor 3							153.0	145.0	147.0					15																	34137155		1969	4156	6125	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137155C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13389C>A	15.37:g.34137155C>A	ENSP00000373884:p.Phe4463Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	p.F4463L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13459	+		all_lung(180;7.18e-09)	4463					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13389C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894511	0.33442	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92858	-3.12	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.339606	0.31495	N	0.007552	D	0.82870	0.5131	N	0.14661	0.345	0.37342	D	0.910447	B;B	0.23249	0.082;0.024	B;B	0.29524	0.058;0.103	T	0.77027	-0.2740	10	0.11182	T	0.66	.	9.4709	0.38842	0.0:0.8415:0.0:0.1585	.	4458;4463	Q15413-2;Q15413	.;RYR3_HUMAN	L	4463;4459	ENSP00000373884:F4463L	ENSP00000354735:F4459L	F	+	3	2	RYR3	31924447	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.828000	0.27435	2.884000	0.98904	0.655000	0.94253	TTC		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			62	248	1	0	3.37043e-27	1	3.8985e-27	62	248				
ABLIM1	3983	broad.mit.edu	37	10	116196108	116196108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116196108G>A	ENST00000277895.5	-	23	2345	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R690W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R690W	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	750	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AAGATTTCCCGAAACACTTCA	0.453																																						ENST00000533213.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(2068-2070)Cgg>Tgg		actin binding LIM protein 1							110.0	105.0	106.0					10																	116196108		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116196108G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.2248C>T	10.37:g.116196108G>A	ENSP00000277895:p.Arg750Trp					ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R750W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R690W	p.R690W			O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	23	2369	-		Colorectal(252;0.0373)|Breast(234;0.231)	750					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.2068C>T	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438391	0.43326	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	T;T;T;T	0.31769	1.64;1.48;1.64;1.48	5.95	4.08	0.47627	Villin headpiece (5);	0.511140	0.22513	N	0.059068	T	0.23727	0.0574	L	0.32530	0.975	0.28110	N	0.931034	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.10450	0.001;0.001;0.005;0.003	T	0.14587	-1.0467	10	0.51188	T	0.08	.	10.343	0.43891	0.1527:0.0:0.8473:0.0	.	690;718;750;427	F8W8M4;A6NKJ2;O14639;O14639-5	.;.;ABLM1_HUMAN;.	W	750;690;427;373;718;690;818;674;427;674;627;818;502	ENSP00000358256:R690W;ENSP00000376679:R427W;ENSP00000433629:R690W;ENSP00000358270:R427W	ENSP00000277895:R818W	R	-	1	2	ABLIM1	116186098	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.808000	0.55598	0.832000	0.34804	0.491000	0.48974	CGG		0.453	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			74	346	0	0	0	1	0	74	346				
TLE4	7091	broad.mit.edu	37	9	82319707	82319707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82319707G>T	ENST00000376552.2	+	9	1637	c.619G>T	c.(619-621)Gta>Tta	p.V207L	TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.V207L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	207	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGCTCTTCAGTATCCCCATC	0.413																																						ENST00000376552.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(619-621)Gta>Tta		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							166.0	165.0	165.0					9																	82319707		1844	4097	5941	SO:0001583	missense	7091							g.chr9:82319707G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.619G>T	9.37:g.82319707G>T	ENSP00000365735:p.Val207Leu					TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376537.4_Missense_Mutation_p.V207L	p.V207L	NM_007005.3	NP_008936.2	O60756	BCE1_HUMAN			9	1637	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.619G>T	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805586|3.805586	0.70682|0.70682	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376544;ENST00000376520|ENST00000376552;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142	.|T;T;T;T;T;T	.|0.43294	.|0.95;1.06;1.05;1.59;1.99;1.31	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26304	.|0.0642	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.08055	.|0.001;0.003;0.001;0.001	.|T	.|0.19289	.|-1.0310	.|9	.|0.02654	.|T	.|1	.|2.9876	20.3206|20.3206	0.98668|0.98668	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182;207;207;207	.|F8W6T6;Q04727-2;Q04727-3;Q04727	.|.;.;.;TLE4_HUMAN	.|L	-1|207;207;182;192;77;4	.|ENSP00000365735:V207L;ENSP00000365720:V207L;ENSP00000265284:V182L;ENSP00000409313:V192L;ENSP00000417844:V77L;ENSP00000418409:V4L	.|ENSP00000265284:V182L	.|V	+|+	.|1	.|0	TLE4|TLE4	81509527|81509527	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.975000|0.975000	0.68041|0.68041	7.953000|7.953000	0.87836|0.87836	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	.|GTA		0.413	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		199	843	1	0	9.20999e-90	1	1.18197e-89	199	843				
HHIPL1	84439	broad.mit.edu	37	14	100129317	100129317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100129317A>C	ENST00000330710.5	+	6	1705	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	536					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CTCATCAACAACTACTACCCG	0.602																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1606-1608)aAc>aCc		HHIP-like 1							114.0	95.0	101.0					14																	100129317		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129317A>C	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1607A>C	14.37:g.100129317A>C	ENSP00000330601:p.Asn536Thr					HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	p.N536T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			6	1705	+		Melanoma(154;0.128)	536					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1607A>C	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956543	0.34565	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.13657	5.03;2.57	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.054883	0.64402	D	0.000001	T	0.07683	0.0193	N	0.04746	-0.17	0.58432	D	0.999992	B;B	0.13145	0.005;0.007	B;B	0.25614	0.062;0.006	T	0.29243	-1.0018	10	0.13470	T	0.59	.	14.5057	0.67750	1.0:0.0:0.0:0.0	.	536;536	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	T	536	ENSP00000330601:N536T;ENSP00000349757:N536T	ENSP00000330601:N536T	N	+	2	0	HHIPL1	99199070	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.474000	0.81024	1.840000	0.53500	0.533000	0.62120	AAC		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		46	281	0	0	0	1	0	46	281				
SERPINB7	8710	broad.mit.edu	37	18	61468118	61468118	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61468118G>A	ENST00000398019.2	+	7	941	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	206					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAAGGCAGTCGCCATGATGCA	0.368																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(616-618)Gcc>Acc		serpin peptidase inhibitor, clade B (ovalbumin), member 7							162.0	144.0	150.0					18																	61468118		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61468118G>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.616G>A	18.37:g.61468118G>A	ENSP00000381101:p.Ala206Thr					SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T	p.A206T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			7	941	+		Esophageal squamous(42;0.129)	206					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.616G>A	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064020	0.36373	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.1	-9.16	0.00694	Serpin domain (3);	1.594020	0.03372	N	0.199196	T	0.07954	0.0199	L	0.49513	1.565	0.09310	N	1	B;B	0.22346	0.003;0.068	B;B	0.15484	0.005;0.013	T	0.34800	-0.9814	10	0.72032	D	0.01	.	1.1245	0.01732	0.3147:0.3374:0.1226:0.2253	.	189;206	F5GZC0;O75635	.;SPB7_HUMAN	T	206;206;189;206	ENSP00000337212:A206T;ENSP00000381101:A206T;ENSP00000444572:A189T;ENSP00000444861:A206T	ENSP00000337212:A206T	A	+	1	0	SERPINB7	59619098	0.000000	0.05858	0.001000	0.08648	0.847000	0.48162	-0.302000	0.08221	-1.427000	0.01992	0.650000	0.86243	GCC		0.368	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		62	527	0	0	0	1	0	62	527				
ABCG2	9429	broad.mit.edu	37	4	89020601	89020601	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89020601C>A	ENST00000237612.3	-	12	1913		c.e12-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)						cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GTATTCATGTCTATAGAACAA	0.383																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.e12-1		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						98.0	97.0	98.0					4																	89020601		2203	4300	6503	SO:0001630	splice_region_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89020601C>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1368-1G>T	4.37:g.89020601C>A						ABCG2_ENST00000515655.1_Splice_Site		NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	12	1913	-		Hepatocellular(203;0.114)						A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Splice_Site	SNP	ENST00000237612.3	37		CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126719	0.77549	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCG2	89239625	1.000000	0.71417	0.996000	0.52242	0.819000	0.46315	7.467000	0.80930	2.421000	0.82119	0.467000	0.42956	.		0.383	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	Intron	52	246	1	0	2.23044e-30	1	2.6157e-30	52	246				
LDB3	11155	broad.mit.edu	37	10	88452318	88452318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88452318C>T	ENST00000361373.4	+	6	907	c.886C>T	c.(886-888)Cga>Tga	p.R296*	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000429277.2_Nonsense_Mutation_p.R364*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGAAGCTCTGCGAAGGTCAAG	0.607																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1090-1092)Cga>Tga		LIM domain binding 3							134.0	114.0	121.0					10																	88452318		2203	4300	6503	SO:0001587	stop_gained	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88452318C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.886C>T	10.37:g.88452318C>T	ENSP00000355296:p.Arg296*					LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*|LDB3_ENST00000361373.4_Nonsense_Mutation_p.R296*	p.R364*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			8	1235	+			361						Nonsense_Mutation	SNP	ENST00000361373.4	37	c.1090C>T	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	37	5.985369	0.97173	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373	.	.	.	5.92	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	13.8726	0.63629	0.6723:0.3277:0.0:0.0	.	.	.	.	X	296;364;249;249;249;364;296;296	.	ENSP00000263066:R249X	R	+	1	2	LDB3	88442298	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	2.550000	0.45811	0.828000	0.34709	0.655000	0.94253	CGA		0.607	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			82	395	0	0	0	1	0	82	395				
API5	8539	broad.mit.edu	37	11	43345051	43345051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345051G>A	ENST00000531273.1	+	6	754	c.615G>A	c.(613-615)caG>caA	p.Q205Q	API5_ENST00000455725.2_Silent_p.Q194Q|API5_ENST00000420461.2_Silent_p.Q151Q|API5_ENST00000378852.3_Silent_p.Q205Q|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Silent_p.Q205Q			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	205	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.L204_S208delLQTVS(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AAAGCTTACAGACAGTGAGTG	0.443																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			1	Deletion - In frame(1)	p.L204_S208delLQTVS(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(613-615)caG>caA		apoptosis inhibitor 5							105.0	102.0	103.0					11																	43345051		2203	4300	6503	SO:0001819	synonymous_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43345051G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.615G>A	11.37:g.43345051G>A						API5_ENST00000534600.1_Silent_p.Q205Q|API5_ENST00000455725.2_Silent_p.Q194Q|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Silent_p.Q205Q|API5_ENST00000420461.2_Silent_p.Q151Q	p.Q205Q	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			6	740	+			205					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	c.615G>A	CCDS44572.1																																																																																				0.443	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		88	434	0	0	0	1	0	88	434				
RPL4	6124	broad.mit.edu	37	15	66794186	66794186	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66794186C>A	ENST00000307961.6	-	5	578	c.486G>T	c.(484-486)aaG>aaT	p.K162N	SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.K68N|SNORD16_ENST00000362803.1_RNA|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	162					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTTGGTCTTCTTGTAGCCTT	0.388																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(484-486)aaG>aaT		ribosomal protein L4							90.0	86.0	87.0					15																	66794186		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66794186C>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.486G>T	15.37:g.66794186C>A	ENSP00000311430:p.Lys162Asn					RPL4_ENST00000568588.1_Missense_Mutation_p.K68N	p.K162N	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			5	578	-			162					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.486G>T	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725205	0.48833	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.1	5.1	0.69264	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.42744	1.35	0.80722	D	1	B;B	0.27351	0.017;0.176	B;B	0.32864	0.056;0.154	T	0.52396	-0.8581	9	0.32370	T	0.25	-19.9368	13.0628	0.59015	0.0:0.9239:0.0:0.0761	.	162;162	B4DFI6;P36578	.;RL4_HUMAN	N	162	.	ENSP00000311430:K162N	K	-	3	2	RPL4	64581240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.025000	0.49681	2.652000	0.90054	0.655000	0.94253	AAG		0.388	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		19	209	1	0	3.32936e-07	1	3.45006e-07	19	209				
ZNF708	7562	broad.mit.edu	37	19	21476148	21476148	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476148G>T	ENST00000356929.3	-	4	1817	c.1620C>A	c.(1618-1620)gcC>gcA	p.A540A		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACTGGTTAAAGGCTTTGCCAC	0.348																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1618-1620)gcC>gcA		zinc finger protein 708							61.0	67.0	65.0					19																	21476148		2203	4299	6502	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476148G>T	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1620C>A	19.37:g.21476148G>T							p.A540A	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1817	-			540					Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.1620C>A	CCDS32980.1																																																																																				0.348	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		58	303	1	0	2.41709e-19	1	2.69562e-19	58	303				
PLEC	5339	broad.mit.edu	37	8	144994963	144994963	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144994963T>C	ENST00000322810.4	-	32	9606	c.9437A>G	c.(9436-9438)gAc>gGc	p.D3146G	PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G|PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G|PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3146	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCGGCTACGTCTCGCACAGA	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9436-9438)gAc>gGc		plectin							24.0	28.0	27.0					8																	144994963		2064	4173	6237	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994963T>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9437A>G	8.37:g.144994963T>C	ENSP00000323856:p.Asp3146Gly					PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G|PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G	p.D3146G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9606	-			3146			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9437A>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478516	0.12521	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.6	4.6	0.57074	.	0.083430	0.46145	U	0.000302	T	0.64294	0.2585	M	0.67953	2.075	0.29047	N	0.884764	B;B;B;B;B;B;B;B	0.19817	0.039;0.039;0.039;0.023;0.039;0.039;0.039;0.039	B;B;B;B;B;B;B;B	0.22152	0.031;0.038;0.038;0.014;0.038;0.031;0.031;0.031	T	0.60141	-0.7321	10	0.33940	T	0.23	.	13.2525	0.60060	0.0:0.0:0.0:1.0	.	3036;2995;2987;3146;2977;3009;3013;3009	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	G	3009;3013;3009;2977;3146;2987;2995;3036;3032	ENSP00000344848:D3009G;ENSP00000350277:D3013G;ENSP00000346602:D3009G;ENSP00000381756:D2977G;ENSP00000323856:D3146G;ENSP00000347044:D2987G;ENSP00000348702:D2995G;ENSP00000388180:D3036G;ENSP00000434583:D3032G	ENSP00000323856:D3146G	D	-	2	0	PLEC	145066951	1.000000	0.71417	0.337000	0.25536	0.168000	0.22595	4.699000	0.61796	1.852000	0.53769	0.368000	0.22195	GAC		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		60	273	0	0	0	1	0	60	273				
SBNO2	22904	broad.mit.edu	37	19	1112481	1112481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112481C>T	ENST00000361757.3	-	21	2672	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	SBNO2_ENST00000587024.1_Missense_Mutation_p.R802H|SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	812					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACACGGCGGTCGGCTTG	0.706																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2434-2436)cGc>cAc		strawberry notch homolog 2 (Drosophila)							12.0	19.0	17.0					19																	1112481		2012	4139	6151	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1112481C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2435G>A	19.37:g.1112481C>T	ENSP00000354733:p.Arg812His					SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H|SBNO2_ENST00000587024.1_Missense_Mutation_p.R802H	p.R812H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	2672	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	812					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2435G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777001	0.90195	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.76316	-1.01;-1.01	4.89	4.89	0.63831	.	0.060647	0.64402	D	0.000003	D	0.88325	0.6406	M	0.89095	3.005	0.31949	N	0.609907	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.89777	0.3958	10	0.56958	D	0.05	-25.5626	10.6635	0.45717	0.0:0.9113:0.0:0.0887	.	812;755	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	H	812;755;819	ENSP00000354733:R812H;ENSP00000400762:R755H	ENSP00000250872:R819H	R	-	2	0	SBNO2	1063481	0.999000	0.42202	0.901000	0.35422	0.840000	0.47671	3.834000	0.55798	2.265000	0.75225	0.448000	0.29417	CGC		0.706	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		17	79	0	0	0	1	0	17	79				
HIVEP2	3097	broad.mit.edu	37	6	143081626	143081626	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143081626T>C	ENST00000367604.1	-	8	6438	c.5799A>G	c.(5797-5799)tcA>tcG	p.S1933S	HIVEP2_ENST00000367603.2_Silent_p.S1933S|HIVEP2_ENST00000012134.2_Silent_p.S1933S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGTGCTTCTTGATCTTGTTT	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5797-5799)tcA>tcG		human immunodeficiency virus type I enhancer binding protein 2							63.0	67.0	66.0					6																	143081626		2029	4181	6210	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081626T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5799A>G	6.37:g.143081626T>C						HIVEP2_ENST00000367604.1_Silent_p.S1933S|HIVEP2_ENST00000012134.2_Silent_p.S1933S	p.S1933S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6541	-			1933					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.5799A>G	CCDS43510.1																																																																																				0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			20	225	0	0	0	1	0	20	225				
FRZB	2487	broad.mit.edu	37	2	183699691	183699691	+	Splice_Site	SNP	C	C	T	rs373076417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183699691C>T	ENST00000295113.4	-	6	1472	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	288	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CATATCCCAGCGCTGTGAAAT	0.428																																						ENST00000295113.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.e6-1		frizzled-related protein		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	77.0	78.0		863	5.6	1.0	2		78	0,8600		0,0,4300	no	missense-near-splice	FRZB	NM_001463.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	288/326	183699691	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183699691C>T	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.862-1G>A	2.37:g.183699691C>T							p.R288_splice	NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		6	1472	-			288			NTR.		O00181|Q99686	Splice_Site	SNP	ENST00000295113.4	37	c.861_splice	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447749	0.84101	2.27E-4	0.0	ENSG00000162998	ENST00000295113	T	0.25579	1.79	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.34453	-0.9828	10	0.72032	D	0.01	.	19.628	0.95687	0.0:1.0:0.0:0.0	.	288	Q92765	SFRP3_HUMAN	H	288	ENSP00000295113:R288H	ENSP00000295113:R288H	R	-	2	0	FRZB	183407936	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.359000	0.66074	2.648000	0.89879	0.650000	0.86243	CGC		0.428	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463	Missense_Mutation	110	328	0	0	0	1	0	110	328				
MFAP3	4238	broad.mit.edu	37	5	153433216	153433216	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153433216A>G	ENST00000436816.1	+	3	1251	c.1032A>G	c.(1030-1032)ggA>ggG	p.G344G	MFAP3_ENST00000439768.2_Silent_p.G198G|MFAP3_ENST00000322602.5_Silent_p.G344G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	344					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGATATAGGATCTGCAGAAT	0.418																																						ENST00000436816.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(1030-1032)ggA>ggG		microfibrillar-associated protein 3							91.0	90.0	91.0					5																	153433216		2203	4300	6503	SO:0001819	synonymous_variant	4238					integral to membrane|plasma membrane		g.chr5:153433216A>G		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.1032A>G	5.37:g.153433216A>G						MFAP3_ENST00000322602.5_Silent_p.G344G|MFAP3_ENST00000439768.2_Silent_p.G198G	p.G344G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	1251	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	344					B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	ENST00000436816.1	37	c.1032A>G	CCDS4324.1																																																																																				0.418	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		121	448	0	0	0	1	0	121	448				
DENND2A	27147	broad.mit.edu	37	7	140301472	140301472	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140301472G>T	ENST00000275884.6	-	2	1143	c.726C>A	c.(724-726)ccC>ccA	p.P242P	DENND2A_ENST00000492720.1_Silent_p.P242P|DENND2A_ENST00000537639.1_Silent_p.P242P|DENND2A_ENST00000496613.1_Silent_p.P242P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	242					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCGGTCCCAGGGCCTTCTGC	0.602																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(724-726)ccC>ccA		DENN/MADD domain containing 2A							103.0	105.0	105.0					7																	140301472		1884	4099	5983	SO:0001819	synonymous_variant	27147							g.chr7:140301472G>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.726C>A	7.37:g.140301472G>T						DENND2A_ENST00000537639.1_Silent_p.P242P|DENND2A_ENST00000496613.1_Silent_p.P242P|DENND2A_ENST00000492720.1_Silent_p.P242P	p.P242P			Q9ULE3	DEN2A_HUMAN			2	1143	-	Melanoma(164;0.00956)		242					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.726C>A	CCDS43659.1																																																																																				0.602	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		13	959	1	0	0.00136819	1	0.0013818	13	959				
PKD2	5311	broad.mit.edu	37	4	88968016	88968016	+	Silent	SNP	C	C	T	rs145716012		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88968016C>T	ENST00000237596.2	+	6	1608	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATGTTGTGATCGTTGTGGTAG	0.363																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1540-1542)atC>atT		polycystic kidney disease 2 (autosomal dominant)		C		0,4406		0,0,2203	125.0	123.0	123.0		1542	0.2	0.5	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKD2	NM_000297.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		514/969	88968016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88968016C>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1542C>T	4.37:g.88968016C>T						PKD2_ENST00000508588.1_Intron	p.I514I	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1608	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	514					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000237596.2	37	c.1542C>T	CCDS3627.1																																																																																				0.363	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		85	391	0	0	0	1	0	85	391				
DEGS1	8560	broad.mit.edu	37	1	224380108	224380108	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224380108T>G	ENST00000323699.4	+	3	1066	c.900T>G	c.(898-900)ttT>ttG	p.F300L	DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	300					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TGTATGATTTTGTGATGGATG	0.388																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(898-900)ttT>ttG		delta(4)-desaturase, sphingolipid 1							87.0	80.0	82.0					1																	224380108		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224380108T>G	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.900T>G	1.37:g.224380108T>G	ENSP00000316476:p.Phe300Leu					DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	p.F300L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	3	1066	+	Breast(184;0.193)		300						Missense_Mutation	SNP	ENST00000323699.4	37	c.900T>G	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.429825	0.83776	.	.	ENSG00000143753	ENST00000323699;ENST00000391877	T;T	0.55234	0.53;0.53	5.85	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.76793	-0.2828	9	.	.	.	.	7.8847	0.29642	0.0:0.2314:0.0:0.7686	.	300	O15121	DEGS1_HUMAN	L	300	ENSP00000316476:F300L;ENSP00000375749:F300L	.	F	+	3	2	DEGS1	222446731	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.652000	0.24888	1.038000	0.40049	0.459000	0.35465	TTT		0.388	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			78	164	0	0	0	1	0	78	164				
F8	2157	broad.mit.edu	37	X	154156894	154156894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154156894C>T	ENST00000360256.4	-	14	5371	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1724	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCCAGAGCCTCTCCACTGC	0.408																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(5170-5172)aGg>aAg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						73.0	59.0	64.0					X																	154156894		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154156894C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5171G>A	X.37:g.154156894C>T	ENSP00000353393:p.Arg1724Lys						p.R1724K	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	5371	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1724			F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5171G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	3.065	-0.192479	0.06259	.	.	ENSG00000185010	ENST00000360256	D	0.98717	-5.09	5.15	1.49	0.22878	Cupredoxin (2);	0.683124	0.14244	N	0.331866	D	0.90906	0.7142	N	0.03608	-0.345	0.19300	N	0.999977	B	0.10296	0.003	B	0.08055	0.003	D	0.84554	0.0646	10	0.02654	T	1	-1.5746	2.4056	0.04412	0.2282:0.379:0.0:0.3927	.	1724	P00451	FA8_HUMAN	K	1724	ENSP00000353393:R1724K	ENSP00000353393:R1724K	R	-	2	0	F8	153810088	0.466000	0.25823	0.990000	0.47175	0.961000	0.63080	-0.051000	0.11885	0.330000	0.23485	0.538000	0.68166	AGG		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			46	143	0	0	0	1	0	46	143				
TRPM6	140803	broad.mit.edu	37	9	77422987	77422987	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77422987A>C	ENST00000360774.1	-	14	1838	c.1601T>G	c.(1600-1602)tTc>tGc	p.F534C	TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C|TRPM6_ENST00000451710.3_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	534					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGGGCTCTGAAATGTTTTCT	0.368																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1600-1602)tTc>tGc		transient receptor potential cation channel, subfamily M, member 6							261.0	248.0	252.0					9																	77422987		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77422987A>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1601T>G	9.37:g.77422987A>C	ENSP00000354006:p.Phe534Cys					TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C|TRPM6_ENST00000360774.1_Missense_Mutation_p.F534C	p.F534C			Q9BX84	TRPM6_HUMAN			14	1838	-			534					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1601T>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483220	0.84747	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.04;-0.87;-0.87;-0.87	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.91034	0.4866	10	0.87932	D	0	.	16.084	0.81025	1.0:0.0:0.0:0.0	.	534;534;529	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	534;534;534;529;529;534;197;197	ENSP00000354006:F534C;ENSP00000407341:F534C;ENSP00000366068:F534C;ENSP00000396672:F529C;ENSP00000354962:F529C;ENSP00000366060:F534C	ENSP00000309693:F197C	F	-	2	0	TRPM6	76612807	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.202000	0.70862	0.482000	0.46254	TTC		0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		44	426	0	0	0	1	0	44	426				
SLIT3	6586	broad.mit.edu	37	5	168244398	168244398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168244398G>A	ENST00000519560.1	-	8	1119	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W|SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	234	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACTGTCCGTCGCTGTCGC	0.612																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(700-702)Cgg>Tgg		slit homolog 3 (Drosophila)							74.0	67.0	70.0					5																	168244398		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168244398G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.700C>T	5.37:g.168244398G>A	ENSP00000430333:p.Arg234Trp					SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W|SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W	p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1119	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	234			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.700C>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826038	0.71143	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77750	-1.12;-1.12;-1.12	5.62	-0.0254	0.13935	Cysteine-rich flanking region, C-terminal (1);	0.169770	0.49305	D	0.000159	T	0.79879	0.4522	L	0.45137	1.4	0.28541	N	0.912114	D;D;D	0.76494	0.999;0.999;0.994	P;D;P	0.63957	0.895;0.92;0.757	T	0.75311	-0.3362	10	0.87932	D	0	.	11.5006	0.50435	0.0:0.1126:0.3165:0.5709	.	234;234;234	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	W	234	ENSP00000430333:R234W;ENSP00000332164:R234W;ENSP00000384890:R234W	ENSP00000332164:R234W	R	-	1	2	SLIT3	168176976	0.997000	0.39634	0.813000	0.32504	0.990000	0.78478	3.642000	0.54367	-0.019000	0.14055	0.561000	0.74099	CGG		0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		57	245	0	0	0	1	0	57	245				
ACR	49	broad.mit.edu	37	22	51182561	51182561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51182561A>C	ENST00000216139.5	+	4	678	c.638A>C	c.(637-639)cAg>cCg	p.Q213P	AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	213	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AACTCGACCCAGTGGTACAAT	0.567																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(637-639)cAg>cCg		acrosin							201.0	174.0	183.0					22																	51182561		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51182561A>C	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.638A>C	22.37:g.51182561A>C	ENSP00000216139:p.Gln213Pro						p.Q213P	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	4	678	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	213			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.638A>C	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	15.78	2.933640	0.52866	.	.	ENSG00000100312	ENST00000216139	T	0.59083	0.29	4.48	0.716	0.18191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.999557	0.08091	N	0.999345	T	0.57504	0.2058	N	0.25380	0.74	0.09310	N	1	D	0.57571	0.98	P	0.61070	0.883	T	0.48736	-0.9009	10	0.39692	T	0.17	-2.5812	7.2849	0.26333	0.6744:0.0:0.3256:0.0	.	213	P10323	ACRO_HUMAN	P	213	ENSP00000216139:Q213P	ENSP00000216139:Q213P	Q	+	2	0	ACR	49529427	0.000000	0.05858	0.025000	0.17156	0.985000	0.73830	-0.661000	0.05311	-0.081000	0.12662	0.370000	0.22315	CAG		0.567	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		78	594	0	0	0	1	0	78	594				
DBX2	440097	broad.mit.edu	37	12	45429866	45429866	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45429866C>T	ENST00000332700.6	-	2	606	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	145					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		agtagaatggcggggtgctca	0.473																																						ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(433-435)ccG>ccA		developing brain homeobox 2							63.0	70.0	67.0					12																	45429866		2203	4300	6503	SO:0001819	synonymous_variant	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45429866C>T		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.435G>A	12.37:g.45429866C>T							p.P145P	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	2	606	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	145						Silent	SNP	ENST00000332700.6	37	c.435G>A	CCDS31781.1																																																																																				0.473	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		26	127	0	0	0	1	0	26	127				
PCDHGA12	26025	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGGCACGCAGCTGCTT	0.597																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(775-777)aCg>aTg									55.0	56.0	56.0					5																	140811102		2203	4300	6503	SO:0001583	missense	0							g.chr5:140811102C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.776C>T	5.37:g.140811102C>T	ENSP00000252085:p.Thr259Met					PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T259M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	918	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.776C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282306	0.40394	.	.	ENSG00000253159	ENST00000252085	T	0.58358	0.34	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81088	0.4750	H	0.94964	3.605	0.28706	N	0.903812	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.78790	-0.2066	9	0.66056	D	0.02	.	17.9729	0.89118	0.0:1.0:0.0:0.0	.	259;259	O60330-2;O60330	.;PCDGC_HUMAN	M	259	ENSP00000252085:T259M	ENSP00000252085:T259M	T	+	2	0	PCDHGA12	140791286	0.029000	0.19370	0.948000	0.38648	0.063000	0.16089	3.056000	0.49923	2.566000	0.86566	0.655000	0.94253	ACG		0.597	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		88	359	0	0	0	1	0	88	359				
TMEM59L	25789	broad.mit.edu	37	19	18731268	18731268	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18731268C>A	ENST00000600490.1	+	9	1136	c.951C>A	c.(949-951)ccC>ccA	p.P317P	TMEM59L_ENST00000262817.3_Silent_p.P317P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	317						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCGATTGGCCCCTGTACCCGC	0.647																																						ENST00000600490.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(949-951)ccC>ccA		transmembrane protein 59-like							75.0	68.0	71.0					19																	18731268		2203	4300	6503	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18731268C>A	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.951C>A	19.37:g.18731268C>A						TMEM59L_ENST00000262817.3_Silent_p.P317P	p.P317P			Q9UK28	TM59L_HUMAN			9	1136	+			317						Silent	SNP	ENST00000600490.1	37	c.951C>A	CCDS12383.1																																																																																				0.647	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			12	431	1	0	2.27111e-07	1	2.35674e-07	12	431				
FASN	2194	broad.mit.edu	37	17	80050687	80050687	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80050687G>A	ENST00000306749.2	-	7	998	c.780C>T	c.(778-780)ggC>ggT	p.G260G		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	260	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGAAGGTCACGCCTGCGGAGG	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.e7-1		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						26.0	28.0	27.0					17																	80050687		2175	4279	6454	SO:0001630	splice_region_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80050687G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.779-1C>T	17.37:g.80050687G>A							p.G260_splice	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		7	998	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		260			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	37	c.778_splice	CCDS11801.1																																																																																				0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	Silent	17	48	0	0	0	1	0	17	48				
AHNAK	79026	broad.mit.edu	37	11	62290929	62290929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62290929G>T	ENST00000378024.4	-	5	11234	c.10960C>A	c.(10960-10962)Ctg>Atg	p.L3654M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3654					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCCTTCAGCTTTGCATCT	0.473																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10960-10962)Ctg>Atg		AHNAK nucleoprotein							208.0	214.0	212.0					11																	62290929		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290929G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10960C>A	11.37:g.62290929G>T	ENSP00000367263:p.Leu3654Met					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3654M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11234	-		Melanoma(852;0.155)	3654					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10960C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.85	1.760746	0.31137	.	.	ENSG00000124942	ENST00000378024	T	0.01397	4.94	5.16	0.884	0.19182	.	1.419600	0.05322	N	0.526753	T	0.03305	0.0096	M	0.88775	2.98	0.20403	N	0.99991	P	0.37663	0.604	B	0.36134	0.218	T	0.43861	-0.9365	10	0.38643	T	0.18	-6.531	2.8861	0.05661	0.2244:0.1249:0.5235:0.1273	.	3654	Q09666	AHNK_HUMAN	M	3654	ENSP00000367263:L3654M	ENSP00000367263:L3654M	L	-	1	2	AHNAK	62047505	0.000000	0.05858	0.287000	0.24848	0.643000	0.38383	-2.341000	0.01100	0.482000	0.27582	0.579000	0.79373	CTG		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		301	1202	1	0	1.53719e-90	1	1.97347e-90	301	1202				
C1QL3	389941	broad.mit.edu	37	10	16556588	16556588	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556588G>T	ENST00000298943.3	-	2	1646	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	236	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCTCCATGGGCTTTCCCGCC	0.398																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(706-708)gCc>gAc		complement component 1, q subcomponent-like 3							153.0	142.0	146.0					10																	16556588		2203	4300	6503	SO:0001583	missense	389941					collagen		g.chr10:16556588G>T		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.707C>A	10.37:g.16556588G>T	ENSP00000298943:p.Ala236Asp						p.A236D	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			2	1646	-			236			C1q.		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.707C>A	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012318	0.54468	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.75589	-0.95	5.71	4.81	0.61882	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	L	0.46614	1.455	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.75858	-0.3169	10	0.15952	T	0.53	.	14.6519	0.68803	0.0698:0.0:0.9302:0.0	.	236	Q5VWW1	C1QL3_HUMAN	D	236;213	ENSP00000298943:A236D	ENSP00000298943:A236D	A	-	2	0	C1QL3	16596594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.428000	0.47296	0.655000	0.94253	GCC		0.398	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		85	394	1	0	8.14536e-31	1	9.57012e-31	85	394				
PDK2	5164	broad.mit.edu	37	17	48172856	48172856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48172856C>T	ENST00000503176.1	+	1	218	c.57C>T	c.(55-57)taC>taT	p.Y19Y	PDK2_ENST00000007708.3_Intron	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	19					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CGCCCAAGTACATAGAGCACT	0.677									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(55-57)taC>taT		pyruvate dehydrogenase kinase, isozyme 2							32.0	34.0	33.0					17																	48172856		2203	4299	6502	SO:0001819	synonymous_variant	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48172856C>T	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.57C>T	17.37:g.48172856C>T						PDK2_ENST00000007708.3_Intron	p.Y19Y	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			1	218	+			19					A8K3A7|B3KNW0|Q6P515|Q9BS05	Silent	SNP	ENST00000503176.1	37	c.57C>T	CCDS11559.1																																																																																				0.677	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		17	63	0	0	0	1	0	17	63				
NR4A2	4929	broad.mit.edu	37	2	157184947	157184947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157184947C>A	ENST00000339562.4	-	4	1325	c.963G>T	c.(961-963)caG>caT	p.Q321H	NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	321					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCAGGCACTTCTGAAATCGGC	0.512																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(961-963)caG>caT		nuclear receptor subfamily 4, group A, member 2							112.0	102.0	105.0					2																	157184947		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157184947C>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.963G>T	2.37:g.157184947C>A	ENSP00000344479:p.Gln321His					NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H	p.Q321H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			4	1325	-			321					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.963G>T	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.002799|3.002799	0.54254|0.54254	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000406048|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	.|D;D;D;D;D;D	.|0.97430	.|-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	6.07|6.07	4.3|4.3	0.51218|0.51218	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	.|0.053540	.|0.85682	.|D	.|0.000000	.|D	.|0.98102	.|0.9374	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|D	.|0.98019	.|1.0370	.|10	.|0.87932	.|D	.|0	.|.	9.36|9.36	0.38190|0.38190	0.1191:0.7675:0.0:0.1134|0.1191:0.7675:0.0:0.1134	.|.	.|321	.|P43354	.|NR4A2_HUMAN	X|H	103|321;258;321;332;321;258	.|ENSP00000344479:Q321H;ENSP00000389986:Q258H;ENSP00000386747:Q321H;ENSP00000444925:Q332H;ENSP00000386993:Q321H;ENSP00000410952:Q258H	.|ENSP00000344479:Q321H	E|Q	-|-	1|3	0|2	NR4A2|NR4A2	156893193|156893193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.201000|2.201000	0.42734|0.42734	0.909000|0.909000	0.36697|0.36697	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.512	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			80	395	1	0	4.8811e-34	1	5.79764e-34	80	395				
APBA1	320	broad.mit.edu	37	9	72071981	72071981	+	Silent	SNP	G	G	A	rs144906159	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72071981G>A	ENST00000265381.4	-	7	1812	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	530	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTGTGTCGGCGTTCAGCACTT	0.483																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1588-1590)aaC>aaT		amyloid beta (A4) precursor protein-binding, family A, member 1		G		5,4401	9.9+/-24.2	0,5,2198	130.0	117.0	121.0		1590	-3.6	0.8	9	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APBA1	NM_001163.3		0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461		530/838	72071981	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72071981G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1590C>T	9.37:g.72071981G>A						APBA1_ENST00000470082.1_5'UTR	p.N530N	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			7	1812	-			530			PID.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1590C>T	CCDS6630.1																																																																																				0.483	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		59	234	0	0	0	1	0	59	234				
CFHR2	3080	broad.mit.edu	37	1	196920108	196920108	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196920108T>G	ENST00000367415.5	+	3	480	c.380T>G	c.(379-381)aTt>aGt	p.I127S	CFHR2_ENST00000476712.2_Missense_Mutation_p.I111S|CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	127	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GAGAACAACATTTCATGTGTA	0.388																																						ENST00000367415.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(379-381)aTt>aGt		complement factor H-related 2							130.0	113.0	118.0					1																	196920108		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196920108T>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.380T>G	1.37:g.196920108T>G	ENSP00000356385:p.Ile127Ser					CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S|CFHR2_ENST00000476712.1_3'UTR	p.I127S	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			3	494	+			127			Sushi 2.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.380T>G	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.962534	0.34659	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.67698	-0.28;-0.28	2.77	1.59	0.23543	Complement control module (2);Sushi/SCR/CCP (3);	0.234704	0.21634	N	0.071425	T	0.75679	0.3882	M	0.77313	2.365	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62153	-0.6914	10	0.33940	T	0.23	.	4.5334	0.12017	0.0:0.1685:0.0:0.8315	.	127	P36980	FHR2_HUMAN	S	127	ENSP00000356391:I127S;ENSP00000356385:I127S	ENSP00000356385:I127S	I	+	2	0	CFHR2	195186731	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.947000	0.29082	0.268000	0.21939	0.352000	0.21897	ATT		0.388	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		12	443	0	0	0	1	0	12	443				
SYNE1	23345	broad.mit.edu	37	6	152642447	152642447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152642447G>T	ENST00000367255.5	-	84	16763	c.16162C>A	c.(16162-16164)Ctt>Att	p.L5388I	SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5388					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTATAAAGACCTAAGTAC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(16162-16164)Ctt>Att		spectrin repeat containing, nuclear envelope 1							104.0	98.0	100.0					6																	152642447		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152642447G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16162C>A	6.37:g.152642447G>T	ENSP00000356224:p.Leu5388Ile	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I	p.L5388I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	84	16763	-		Ovarian(120;0.0955)	5388					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.16162C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623989	0.46840	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57273	0.5;0.5;0.41;0.5;0.48	5.47	4.6	0.57074	.	0.000000	0.50627	D	0.000102	T	0.49287	0.1548	M	0.70275	2.135	0.80722	D	1	P;P;P;P	0.45044	0.849;0.598;0.598;0.72	P;B;B;P	0.52217	0.693;0.411;0.411;0.616	T	0.52997	-0.8500	10	0.42905	T	0.14	.	9.3984	0.38417	0.0727:0.0:0.7852:0.1422	.	5388;5388;5388;5317	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	5388;5317;5388;5317;5061	ENSP00000356224:L5388I;ENSP00000396024:L5317I;ENSP00000265368:L5388I;ENSP00000390975:L5317I;ENSP00000341887:L5061I	ENSP00000265368:L5388I	L	-	1	0	SYNE1	152684140	1.000000	0.71417	0.634000	0.29324	0.879000	0.50718	2.872000	0.48467	1.299000	0.44798	0.655000	0.94253	CTT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		38	172	1	0	4.92203e-23	1	5.5867e-23	38	172				
HCFC1	3054	broad.mit.edu	37	X	153221812	153221812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153221812C>T	ENST00000310441.7	-	16	3652	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R|HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	896	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCGCCCCGGCAAGGCTG	0.632																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2686-2688)Ggg>Agg		host cell factor C1 (VP16-accessory protein)							78.0	88.0	84.0					X																	153221812		2186	4260	6446	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153221812C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2686G>A	X.37:g.153221812C>T	ENSP00000309555:p.Gly896Arg					HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R|HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R	p.G896R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			16	3652	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		896			Interaction with GABP2.|Interaction with ZBTB17.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2686G>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944006	0.73672	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03831	3.91;3.97;3.79	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	L	0.27053	0.805	0.53005	D	0.999962	D	0.89917	1.0	D	0.69307	0.963	T	0.04607	-1.0939	10	0.72032	D	0.01	.	16.8335	0.85951	0.0:1.0:0.0:0.0	.	896	P51610	HCFC1_HUMAN	R	896;896;827	ENSP00000309555:G896R;ENSP00000359001:G896R;ENSP00000346174:G827R	ENSP00000309555:G896R	G	-	1	0	HCFC1	152875006	1.000000	0.71417	0.651000	0.29564	0.119000	0.20118	7.373000	0.79623	2.236000	0.73375	0.529000	0.55759	GGG		0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		126	464	0	0	0	1	0	126	464				
MR1	3140	broad.mit.edu	37	1	181003204	181003204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181003204G>A	ENST00000367580.5	+	1	66	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MR1_ENST00000282990.6_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.D21N|MR1_ENST00000434571.2_Missense_Mutation_p.D21N	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	21					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GAAGCACAGCGATTCCCGTGA	0.453																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(61-63)Gat>Aat		major histocompatibility complex, class I-related							137.0	116.0	123.0					1																	181003204		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181003204G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.61G>A	1.37:g.181003204G>A	ENSP00000356552:p.Asp21Asn					MR1_ENST00000434571.2_Missense_Mutation_p.D21N|MR1_ENST00000282990.6_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.D21N	p.D21N	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			1	66	+			21					A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.61G>A	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733194	0.15574	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.00932	6.12;6.01;5.87;5.53	3.64	-3.93	0.04143	.	1.619240	0.03737	N	0.254405	T	0.00784	0.0026	L	0.31065	0.9	0.21290	N	0.999739	B;B;P;B;B	0.46327	0.002;0.002;0.876;0.001;0.001	B;B;B;B;B	0.34652	0.001;0.001;0.187;0.001;0.001	T	0.51371	-0.8714	9	0.23891	T	0.37	.	7.6435	0.28307	0.6424:0.1687:0.189:0.0	.	21;21;21;21;21	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	N	21	ENSP00000388504:D21N;ENSP00000356552:D21N;ENSP00000282990:D21N;ENSP00000356551:D21N	ENSP00000282990:D21N	D	+	1	0	MR1	179269827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.433000	0.06948	-0.986000	0.03498	-1.578000	0.00866	GAT		0.453	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		32	176	0	0	0	1	0	32	176				
MAGI2	9863	broad.mit.edu	37	7	77756523	77756523	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77756523T>G	ENST00000354212.4	-	19	3667	c.3414A>C	c.(3412-3414)agA>agC	p.R1138S	MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S|MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1138					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTGGGGTTGTCTGTAGTCCG	0.592																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3412-3414)agA>agC		membrane associated guanylate kinase, WW and PDZ domain containing 2							81.0	85.0	84.0					7																	77756523		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77756523T>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3414A>C	7.37:g.77756523T>G	ENSP00000346151:p.Arg1138Ser					MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S	p.R1138S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			19	3667	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1138					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3414A>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744693	0.49151	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.16073	2.37;2.37;2.37	5.33	3.52	0.40303	PDZ/DHR/GLGF (1);	0.000000	0.39544	U	0.001328	T	0.24353	0.0590	L	0.27053	0.805	0.80722	D	1	D;P;D	0.63880	0.981;0.73;0.993	D;B;D	0.72338	0.966;0.391;0.977	T	0.01323	-1.1385	10	0.41790	T	0.15	.	8.78	0.34785	0.0:0.6451:0.0:0.3549	.	1138;1124;1138	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	1124;1138;1138;1138	ENSP00000405766:R1124S;ENSP00000346151:R1138S;ENSP00000428389:R1138S	ENSP00000346151:R1138S	R	-	3	2	MAGI2	77594459	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	0.043000	0.13971	0.733000	0.32492	-0.132000	0.14878	AGA		0.592	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		50	563	0	0	0	1	0	50	563				
PDZD7	79955	broad.mit.edu	37	10	102783309	102783309	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102783309C>A	ENST00000370215.3	-	4	651	c.426G>T	c.(424-426)gaG>gaT	p.E142D	PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	142	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGGTGGTGCTCTCCAGGCTCA	0.647																																						ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(424-426)gaG>gaT		PDZ domain containing 7							79.0	66.0	70.0					10																	102783309		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102783309C>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.426G>T	10.37:g.102783309C>A	ENSP00000359234:p.Glu142Asp					PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	p.E142D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	4	651	-			142			PDZ 1.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.426G>T	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.391612	0.42410	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.30182	1.54	5.05	2.2	0.27929	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.25060	0.705	0.44890	D	0.997906	P;B	0.41947	0.766;0.096	P;B	0.50440	0.641;0.038	T	0.01352	-1.1377	10	0.36615	T	0.2	.	12.6631	0.56826	0.0:0.8225:0.0:0.1775	.	142;142	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	142	ENSP00000359234:E142D	ENSP00000359234:E142D	E	-	3	2	PDZD7	102773299	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	2.198000	0.42705	-0.039000	0.13602	-2.721000	0.00131	GAG		0.647	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		70	289	1	0	9.13743e-30	1	1.06933e-29	70	289				
ZNF383	163087	broad.mit.edu	37	19	37734379	37734379	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734379G>T	ENST00000589413.1	+	8	1824	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I|ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I			Q8NA42	ZN383_HUMAN	zinc finger protein 383	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACA	0.393																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1240-1242)aGa>aTa		zinc finger protein 383							54.0	57.0	56.0					19																	37734379		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734379G>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1241G>T	19.37:g.37734379G>T	ENSP00000464871:p.Arg414Ile					ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I|ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I	p.R414I			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1824	+			414					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.1241G>T	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211440	0.58343	.	.	ENSG00000188283	ENST00000352998	T	0.24908	1.83	3.62	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003790	T	0.36608	0.0973	L	0.45137	1.4	0.40780	D	0.983167	D	0.67145	0.996	D	0.66497	0.944	T	0.21930	-1.0231	10	0.66056	D	0.02	.	10.0584	0.42259	0.0:0.0:0.7991:0.2009	.	414	Q8NA42	ZN383_HUMAN	I	414	ENSP00000340132:R414I	ENSP00000340132:R414I	R	+	2	0	ZNF383	42426219	0.008000	0.16893	1.000000	0.80357	0.902000	0.53008	1.458000	0.35223	2.017000	0.59298	0.563000	0.77884	AGA		0.393	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		53	220	1	0	4.25531e-23	1	4.83061e-23	53	220				
DSG2	1829	broad.mit.edu	37	18	29118725	29118725	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29118725C>T	ENST00000261590.8	+	12	1872	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	555					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TACCAGTGTGCTGCTGCAACA	0.413																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1663-1665)Ctg>Ttg		desmoglein 2							96.0	90.0	92.0					18																	29118725		1897	4120	6017	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29118725C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1663C>T	18.37:g.29118725C>T							p.L555L	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		12	1872	+			555					Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.1663C>T	CCDS42423.1																																																																																				0.413	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		47	245	0	0	0	1	0	47	245				
YWHAE	7531	broad.mit.edu	37	17	1264567	1264567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1264567C>T	ENST00000264335.8	-	4	664	c.397G>A	c.(397-399)Gca>Aca	p.A133T	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	133					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCAAATTCTGCCAGATACCTG	0.373			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(397-399)Gca>Aca		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							91.0	87.0	88.0					17																	1264567		2203	4300	6503	SO:0001583	missense	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1264567C>T	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.397G>A	17.37:g.1264567C>T	ENSP00000264335:p.Ala133Thr					YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	p.A133T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	4	664	-			133					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.397G>A	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265945	0.95399	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.52983	0.64	5.25	5.25	0.73442	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.76478	0.3993	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.83363	0.0003	10	0.87932	D	0	-3.0444	16.4303	0.83840	0.0:1.0:0.0:0.0	.	133	P62258	1433E_HUMAN	T	133;111	ENSP00000264335:A133T	ENSP00000264335:A133T	A	-	1	0	YWHAE	1211317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.454000	0.82982	0.650000	0.86243	GCA		0.373	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		96	440	0	0	0	1	0	96	440				
MAST3	23031	broad.mit.edu	37	19	18249857	18249857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249857G>A	ENST00000262811.6	+	19	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	681	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTGGGCTCCGAGGACGACGA	0.617																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2041-2043)Gag>Aag		microtubule associated serine/threonine kinase 3							51.0	57.0	55.0					19																	18249857		2092	4230	6322	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18249857G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2041G>A	19.37:g.18249857G>A	ENSP00000262811:p.Glu681Lys						p.E681K	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			19	2041	+			681			AGC-kinase C-terminal.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2041G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883681	0.72410	.	.	ENSG00000099308	ENST00000262811	T	0.24350	1.86	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.061031	0.64402	D	0.000005	T	0.45155	0.1328	M	0.83012	2.62	0.80722	D	1	D	0.53151	0.958	P	0.53760	0.734	T	0.51371	-0.8714	10	0.38643	T	0.18	-26.804	14.9224	0.70851	0.0:0.0:1.0:0.0	.	681	O60307	MAST3_HUMAN	K	681	ENSP00000262811:E681K	ENSP00000262811:E681K	E	+	1	0	MAST3	18110857	1.000000	0.71417	0.776000	0.31678	0.139000	0.21198	7.882000	0.87258	1.941000	0.56285	0.313000	0.20887	GAG		0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		6	37	0	0	0	1	0	6	37				
C10orf55	414236	broad.mit.edu	37	10	75673487	75673487	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75673487C>T	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Silent_p.C181C|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Silent_p.C217C|PLAU_ENST00000446342.1_Silent_p.C200C	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TCAGCCCTTGCTGGGTGATCA	0.607																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(598-600)tgC>tgT		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						37.0	42.0	41.0					10																	75673487		2203	4299	6502	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673487C>T		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-654G>A	10.37:g.75673487C>T						C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Silent_p.C217C|PLAU_ENST00000372762.4_Silent_p.C181C|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	p.C200C	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	1082	+	Prostate(51;0.0112)		217			Peptidase S1.		Q3KRG4|Q8NAK4	Silent	SNP	ENST00000409178.1	37	c.600C>T	CCDS53541.1																																																																																				0.607	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		87	371	0	0	0	1	0	87	371				
TMEM87A	25963	broad.mit.edu	37	15	42521011	42521011	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42521011A>C	ENST00000389834.4	-	13	1403	c.1139T>G	c.(1138-1140)aTt>aGt	p.I380S	TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	380						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGTCAGGCTAATAAATATGTG	0.383																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1138-1140)aTt>aGt		transmembrane protein 87A							96.0	93.0	94.0					15																	42521011		2203	4299	6502	SO:0001583	missense	25963					integral to membrane		g.chr15:42521011A>C	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1139T>G	15.37:g.42521011A>C	ENSP00000374484:p.Ile380Ser					TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S	p.I380S	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	13	1403	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	380					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.1139T>G	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583501	0.65992	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.4	5.4	0.78164	.	0.546137	0.15099	U	0.280612	T	0.43634	0.1256	N	0.19112	0.55	0.80722	D	1	P	0.42203	0.773	P	0.44623	0.455	T	0.18555	-1.0333	9	0.14252	T	0.57	-2.8816	15.5958	0.76578	1.0:0.0:0.0:0.0	.	380	Q8NBN3	TM87A_HUMAN	S	380;319;356	.	ENSP00000374484:I380S	I	-	2	0	TMEM87A	40308303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.117000	0.94347	2.277000	0.76020	0.528000	0.53228	ATT		0.383	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		57	278	0	0	0	1	0	57	278				
SAMD9	54809	broad.mit.edu	37	7	92732941	92732941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732941G>A	ENST00000379958.2	-	3	2739	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCATATCGAATGTACTTT	0.353																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2470-2472)Cga>Tga		sterile alpha motif domain containing 9							67.0	68.0	68.0					7																	92732941		2203	4298	6501	SO:0001587	stop_gained	54809					cytoplasm		g.chr7:92732941G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2470C>T	7.37:g.92732941G>A	ENSP00000369292:p.Arg824*						p.R824*	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2739	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		824					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	37	c.2470C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	37	6.494928	0.97612	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.44	2.51	0.30379	.	0.257740	0.23690	U	0.045527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7059	0.28650	0.0:0.161:0.5076:0.3314	.	.	.	.	X	824	.	ENSP00000369292:R824X	R	-	1	2	SAMD9	92570877	0.000000	0.05858	0.937000	0.37676	0.932000	0.56968	0.105000	0.15333	0.429000	0.26202	0.609000	0.83330	CGA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		16	442	0	0	0	1	0	16	442				
CHAF1A	10036	broad.mit.edu	37	19	4432123	4432123	+	Missense_Mutation	SNP	G	G	A	rs45499793	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432123G>A	ENST00000301280.5	+	12	2223	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	708	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAGTTCGCAGCCTGCTT	0.657								Chromatin Structure					G|||	3	0.000599042	0.0	0.0014	5008	,	,		17934	0.0		0.001	False		,,,				2504	0.001					ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2122-2124)Gca>Aca	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	52.0	46.0	48.0		2122	-9.7	0.0	19	dbSNP_127	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHAF1A	NM_005483.2	58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	708/957	4432123	5,13001	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4432123G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2122G>A	19.37:g.4432123G>A	ENSP00000301280:p.Ala708Thr					CHAF1A_ENST00000587368.1_3'UTR	p.A708T	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2223	+		Hepatocellular(1079;0.137)	708			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2122G>A	CCDS32875.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.829	0.154086	0.09185	2.27E-4	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25250	1.81	4.84	-9.69	0.00524	.	.	.	.	.	T	0.05640	0.0148	N	0.04203	-0.255	0.09310	N	1	P	0.41008	0.735	B	0.20184	0.028	T	0.39663	-0.9603	9	0.87932	D	0	-1.689	2.3987	0.04396	0.2251:0.1073:0.4111:0.2565	rs45499793	708	Q13111	CAF1A_HUMAN	T	708	ENSP00000301280:A708T	ENSP00000301280:A708T	A	+	1	0	CHAF1A	4383123	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-0.241000	0.08940	-2.159000	0.00787	-0.857000	0.03018	GCA		0.657	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		29	289	0	0	0	1	0	29	289				
RIMBP3	85376	broad.mit.edu	37	22	20458364	20458364	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20458364C>A	ENST00000426804.1	-	1	3422	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	980										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGGAGAGGCCCTGCTTCCCC	0.587																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(2938-2940)Ggc>Tgc		RIMS binding protein 3							1.0	2.0	2.0					22																	20458364		989	2429	3418	SO:0001583	missense	85376							g.chr22:20458364C>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2938G>T	22.37:g.20458364C>A	ENSP00000391564:p.Gly980Cys						p.G980C	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3422	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.2938G>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424295	0.43020	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.31769	1.48	3.32	1.14	0.20703	.	1.026650	0.07715	N	0.942781	T	0.47229	0.1434	M	0.62723	1.935	0.26803	N	0.96916	D	0.89917	1.0	D	0.75020	0.985	T	0.26815	-1.0092	10	0.87932	D	0	-7.5139	3.5877	0.07977	0.0:0.5385:0.2174:0.2441	.	886	Q9UFD9	RIM3A_HUMAN	C	886;980	ENSP00000391564:G980C	ENSP00000347318:G886C	G	-	1	0	RIMBP3	18838364	0.678000	0.27586	0.003000	0.11579	0.022000	0.10575	4.016000	0.57159	0.223000	0.20920	0.398000	0.26397	GGC		0.587	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		11	111	1	0	3.45872e-05	1	3.53336e-05	11	111				
PLEKHA8P1	51054	broad.mit.edu	37	12	45567294	45567294	+	RNA	SNP	C	C	T	rs150166068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45567294C>T	ENST00000256692.5	-	0	1391					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGCTTCAGTCGCTGAGTTCC	0.438																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26										C		6,4400	11.4+/-27.6	0,6,2197	79.0	78.0	79.0			-0.9	0.0	12	dbSNP_134	79	0,8600		0,0,4300	no	intergenic				0,6,6497	TT,TC,CC		0.0,0.1362,0.0461			45567294	6,13000	2203	4300	6503			0							g.chr12:45567294C>T	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567294C>T								NR_037144.1						0	1391	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.438	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		81	292	0	0	0	1	0	81	292				
ZNF816	125893	broad.mit.edu	37	19	53453615	53453615	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53453615A>G	ENST00000357666.4	-	5	1713	c.1413T>C	c.(1411-1413)caT>caC	p.H471H	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.H471H|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGTGTATGATGGTATTGAA	0.413																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1411-1413)caT>caC		zinc finger protein 816							125.0	122.0	123.0					19																	53453615		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453615A>G	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1413T>C	19.37:g.53453615A>G						ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.H471H	p.H471H	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	1713	-			471					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.1413T>C	CCDS33096.1																																																																																				0.413	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		101	430	0	0	0	1	0	101	430				
YES1	7525	broad.mit.edu	37	18	756664	756664	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:756664C>A	ENST00000584307.1	-	2	334	c.164G>T	c.(163-165)aGc>aTc	p.S55I	YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Missense_Mutation_p.S60I|YES1_ENST00000314574.4_Missense_Mutation_p.S55I			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	55					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGAAAGACTGCTGAAATTAAC	0.488																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(163-165)aGc>aTc		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						251.0	208.0	223.0					18																	756664		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:756664C>A	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.164G>T	18.37:g.756664C>A	ENSP00000462468:p.Ser55Ile					YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Missense_Mutation_p.S55I|YES1_ENST00000577961.1_Missense_Mutation_p.S60I	p.S55I			P07947	YES_HUMAN			2	334	-			55					A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.164G>T	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567998	0.28003	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.74947	-0.89	4.91	-2.04	0.07343	.	0.513334	0.22949	N	0.053687	T	0.48040	0.1478	N	0.08118	0	0.24759	N	0.992936	B	0.19445	0.036	B	0.14023	0.01	T	0.41484	-0.9506	10	0.59425	D	0.04	.	7.5341	0.27700	0.0:0.1655:0.1453:0.6892	.	55	P07947	YES_HUMAN	I	55	ENSP00000324740:S55I	ENSP00000324740:S55I	S	-	2	0	YES1	746664	0.994000	0.37717	0.590000	0.28732	0.972000	0.66771	0.469000	0.22067	-0.087000	0.12528	0.561000	0.74099	AGC		0.488	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		133	643	1	0	2.82259e-58	1	3.53906e-58	133	643				
PHLPP1	23239	broad.mit.edu	37	18	60645587	60645587	+	Silent	SNP	C	C	T	rs376314377		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60645587C>T	ENST00000262719.5	+	17	4311	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	PHLPP1_ENST00000400316.4_Silent_p.S847S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1359	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						ACGTGCAGTCCGTGCTCCTGA	0.622																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2539-2541)tcC>tcT		PH domain and leucine rich repeat protein phosphatase 1		C		0,4322		0,0,2161	38.0	43.0	41.0		4077	-9.5	0.1	18		41	2,8514		0,2,4256	no	coding-synonymous	PHLPP1	NM_194449.2		0,2,6417	TT,TC,CC		0.0235,0.0,0.0156		1359/1718	60645587	2,12836	2161	4258	6419	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645587C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4077C>T	18.37:g.60645587C>T						PHLPP1_ENST00000262719.5_Silent_p.S1359S	p.S847S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4322	+			1359					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.2541C>T	CCDS45881.2																																																																																				0.622	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		18	67	0	0	0	1	0	18	67				
NUTM1	256646	broad.mit.edu	37	15	34649395	34649395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34649395G>A	ENST00000333756.4	+	7	3257	c.3102G>A	c.(3100-3102)gaG>gaA	p.E1034E	NUTM1_ENST00000537011.1_Silent_p.E1062E|NUTM1_ENST00000438749.3_Silent_p.E1052E	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1034						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CACCAAGGGAGCATCCCCTCA	0.527																																						ENST00000537011.1																			0											c.(3184-3186)gaG>gaA		NUT midline carcinoma, family member 1							82.0	68.0	73.0					15																	34649395		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34649395G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3102G>A	15.37:g.34649395G>A						NUTM1_ENST00000333756.4_Silent_p.E1034E|NUTM1_ENST00000438749.3_Silent_p.E1052E	p.E1062E							8	3568	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3186G>A	CCDS32190.1																																																																																				0.527	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		28	268	0	0	0	1	0	28	268				
WDR31	114987	broad.mit.edu	37	9	116094247	116094247	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116094247C>A	ENST00000374193.4	-	3	302	c.56G>T	c.(55-57)aGg>aTg	p.R19M	WDR31_ENST00000461942.1_Intron|WDR31_ENST00000374195.3_De_novo_Start_OutOfFrame|WDR31_ENST00000341761.4_Missense_Mutation_p.R19M	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	19										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GACACAAAACCTAAACGAAAC	0.463																																						ENST00000374195.3																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6								WD repeat domain 31							164.0	137.0	146.0					9																	116094247		2203	4300	6503	SO:0001583	missense	114987							g.chr9:116094247C>A	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.56G>T	9.37:g.116094247C>A	ENSP00000363308:p.Arg19Met					WDR31_ENST00000341761.4_Missense_Mutation_p.R19M|WDR31_ENST00000461942.1_Intron|WDR31_ENST00000374193.4_Missense_Mutation_p.R19M				Q8NA23	WDR31_HUMAN			0	274	-								Q5W0T9|Q96EG8	Translation_Start_Site	SNP	ENST00000374193.4	37		CCDS35110.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219539	0.22373	.	.	ENSG00000148225	ENST00000374193;ENST00000341761	T;T	0.66815	-0.2;-0.23	5.87	-0.0403	0.13872	.	1.347990	0.04219	N	0.333086	T	0.56804	0.2010	L	0.44542	1.39	0.09310	N	0.999998	B;B	0.28584	0.138;0.216	B;B	0.34385	0.088;0.181	T	0.47086	-0.9144	10	0.42905	T	0.14	5.335	0.6637	0.00847	0.1702:0.3512:0.1655:0.3131	.	19;19	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	M	19	ENSP00000363308:R19M;ENSP00000345027:R19M	ENSP00000345027:R19M	R	-	2	0	WDR31	115134068	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	0.073000	0.14640	0.379000	0.24794	0.650000	0.86243	AGG		0.463	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		37	254	1	0	2.75727e-19	1	3.0731e-19	37	254				
SCN10A	6336	broad.mit.edu	37	3	38739804	38739804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739804G>A	ENST00000449082.2	-	27	4906	c.4907C>T	c.(4906-4908)gCt>gTt	p.A1636V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1636					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTCGATGCCAGCCTCCCACCT	0.562																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4906-4908)gCt>gTt		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						178.0	165.0	169.0					3																	38739804		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739804G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4907C>T	3.37:g.38739804G>A	ENSP00000390600:p.Ala1636Val						p.A1636V	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4906	-			1636					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4907C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696607	0.48202	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	5.27	5.27	0.74061	Ion transport (1);	0.192153	0.42964	D	0.000638	D	0.95689	0.8598	L	0.49640	1.575	0.38361	D	0.944602	P	0.42827	0.791	B	0.40066	0.318	D	0.93623	0.6949	10	0.20519	T	0.43	.	8.7982	0.34892	0.0786:0.0:0.7599:0.1615	.	1636	Q9Y5Y9	SCNAA_HUMAN	V	1636	ENSP00000390600:A1636V	ENSP00000390600:A1636V	A	-	2	0	SCN10A	38714808	0.052000	0.20516	0.985000	0.45067	0.640000	0.38277	0.683000	0.25349	2.742000	0.94016	0.655000	0.94253	GCT		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		150	602	0	0	0	1	0	150	602				
ACSM1	116285	broad.mit.edu	37	16	20681265	20681265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681265G>T	ENST00000307493.4	-	5	863	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	ACSM1_ENST00000219151.4_De_novo_Start_InFrame|ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	266					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GAGTCCGACAGGCACCAGGAG	0.507																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42								acyl-CoA synthetase medium-chain family member 1							139.0	120.0	127.0					16																	20681265		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20681265G>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.796C>A	16.37:g.20681265G>T	ENSP00000301956:p.Leu266Met					ACSM1_ENST00000307493.4_Missense_Mutation_p.L266M|ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M				Q08AH1	ACSM1_HUMAN			0	863	-								Q08AH2|Q96A20	Translation_Start_Site	SNP	ENST00000307493.4	37		CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252155	0.22880	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.44083	0.93;0.93	5.05	-9.56	0.00566	AMP-dependent synthetase/ligase (1);	1.387560	0.05286	N	0.520143	T	0.21550	0.0519	N	0.25789	0.76	0.25753	N	0.985031	B	0.21606	0.058	B	0.21917	0.037	T	0.12400	-1.0549	10	0.23302	T	0.38	.	4.6505	0.12592	0.0689:0.3267:0.2181:0.3862	.	266	Q08AH1	ACSM1_HUMAN	M	266	ENSP00000301956:L266M;ENSP00000428047:L266M	ENSP00000301956:L266M	L	-	1	2	ACSM1	20588766	0.000000	0.05858	0.023000	0.16930	0.376000	0.30014	-2.590000	0.00899	-1.145000	0.02858	0.514000	0.50259	CTG		0.507	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		9	253	1	0	0.00621372	1	0.0062537	9	253				
OR1D2	4991	broad.mit.edu	37	17	2995640	2995640	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2995640G>T	ENST00000331459.1	-	1	650	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	217					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCAGCACATAGGAAATGATCA	0.468																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(649-651)tcC>tcA		olfactory receptor, family 1, subfamily D, member 2							111.0	109.0	110.0					17																	2995640		2203	4300	6503	SO:0001819	synonymous_variant	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995640G>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.651C>A	17.37:g.2995640G>T							p.S217S	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	650	-			217					Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	c.651C>A	CCDS11019.1																																																																																				0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		18	440	1	0	2.48551e-13	1	2.68178e-13	18	440				
FBLN2	2199	broad.mit.edu	37	3	13672837	13672837	+	Missense_Mutation	SNP	G	G	A	rs367781349		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13672837G>A	ENST00000295760.7	+	15	3022	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E1032K|FBLN2_ENST00000404922.3_Missense_Mutation_p.E1032K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E1011K	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	985	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGACATCGACGAGTGTGCTCA	0.617																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3094-3096)Gag>Aag		fibulin 2		G	LYS/GLU,LYS/GLU,LYS/GLU	0,4276		0,0,2138	29.0	33.0	32.0		3094,3094,2953	5.4	1.0	3		32	1,8485		0,1,4242	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	56,56,56	0,1,6380	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging	1032/1232,1032/1232,985/1185	13672837	1,12761	2138	4243	6381	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13672837G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2953G>A	3.37:g.13672837G>A	ENSP00000295760:p.Glu985Lys					FBLN2_ENST00000535798.1_Missense_Mutation_p.E1011K|FBLN2_ENST00000492059.1_Missense_Mutation_p.E1032K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E985K	p.E1032K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		16	3213	+			1028			EGF-like 10; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3094G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333528	0.81801	0.0	1.18E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79	5.39	5.39	0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	D	0.96565	0.9418	10	0.87932	D	0	.	19.1574	0.93517	0.0:0.0:1.0:0.0	.	985;1032;1011	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	K	1011;1032;985;1032	ENSP00000445705:E1011K;ENSP00000384169:E1032K;ENSP00000295760:E985K;ENSP00000420042:E1032K	ENSP00000295760:E985K	E	+	1	0	FBLN2	13647838	1.000000	0.71417	0.990000	0.47175	0.103000	0.19146	9.782000	0.99034	2.525000	0.85131	0.655000	0.94253	GAG		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		4	58	0	0	0	1	0	4	58				
ACTN2	88	broad.mit.edu	37	1	236850076	236850076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850076G>A	ENST00000366578.4	+	1	269	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	35	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGACCCAGCCTGGGAGAA	0.701																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(103-105)Gcc>Acc		actinin, alpha 2							42.0	37.0	38.0					1																	236850076		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236850076G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.103G>A	1.37:g.236850076G>A	ENSP00000355537:p.Ala35Thr					ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T|ACTN2_ENST00000492634.1_3'UTR	p.A35T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		1	269	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	35			Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.103G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573356	0.86542	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.59364	0.27;0.27	3.6	2.66	0.31614	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.55743	1.74	0.80722	D	1	B;B	0.27559	0.181;0.03	B;B	0.35470	0.203;0.02	T	0.58629	-0.7603	10	0.87932	D	0	.	12.0331	0.53410	0.0:0.0:0.8257:0.1743	.	35;35	B2RCS5;P35609	.;ACTN2_HUMAN	T	35	ENSP00000443495:A35T;ENSP00000355537:A35T	ENSP00000355537:A35T	A	+	1	0	ACTN2	234916699	1.000000	0.71417	0.991000	0.47740	0.797000	0.45037	8.721000	0.91446	0.670000	0.31165	0.462000	0.41574	GCC		0.701	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		16	151	0	0	0	1	0	16	151				
C7orf25	79020	broad.mit.edu	37	7	42949923	42949923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949923C>T	ENST00000350427.4	-	2	852	c.577G>A	c.(577-579)Gta>Ata	p.V193I	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I|C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I|C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	193										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTGACTGCTACTATGTCTCCT	0.468																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(577-579)Gta>Ata		chromosome 7 open reading frame 25							85.0	79.0	81.0					7																	42949923		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949923C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.577G>A	7.37:g.42949923C>T	ENSP00000343364:p.Val193Ile					C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I	p.V193I			Q9BPX7	CG025_HUMAN			2	852	-			193					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.577G>A	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077554	0.36662	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.48522	0.85;0.85;0.81;0.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.29908	0.895	0.80722	D	1	P;P	0.36086	0.476;0.536	B;B	0.32393	0.145;0.134	T	0.13308	-1.0514	10	0.12430	T	0.62	-15.6413	20.1083	0.97900	0.0:1.0:0.0:0.0	.	251;193	B4DQM3;Q9BPX7	.;CG025_HUMAN	I	193;193;251;193	ENSP00000343364:V193I;ENSP00000413029:V193I;ENSP00000416290:V251I;ENSP00000396597:V193I	ENSP00000343364:V193I	V	-	1	0	C7orf25	42916448	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	7.484000	0.81180	2.764000	0.94973	0.556000	0.70494	GTA		0.468	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		60	288	0	0	0	1	0	60	288				
MET	4233	broad.mit.edu	37	7	116339490	116339490	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116339490A>C	ENST00000318493.6	+	2	539	c.352A>C	c.(352-354)Atg>Ctg	p.M118L	MET_ENST00000397752.3_Missense_Mutation_p.M118L|MET_ENST00000436117.2_Missense_Mutation_p.M118L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAACATCAACATGGCTCTAGT	0.488			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(352-354)Atg>Ctg		met proto-oncogene							125.0	119.0	121.0					7																	116339490		2017	4188	6205	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339490A>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.352A>C	7.37:g.116339490A>C	ENSP00000317272:p.Met118Leu					MET_ENST00000436117.2_Missense_Mutation_p.M118L|MET_ENST00000318493.6_Missense_Mutation_p.M118L	p.M118L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	552	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	118			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.352A>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696168	0.30052	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.6	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.222698	0.52532	N	0.000069	T	0.08670	0.0215	M	0.70275	2.135	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.003;0.001;0.003;0.001;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17979	0.004;0.012;0.012;0.012;0.012;0.012;0.02;0.012;0.014;0.004;0.012;0.006;0.006	T	0.04053	-1.0981	10	0.42905	T	0.14	.	12.7796	0.57469	0.8516:0.1484:0.0:0.0	.	118;118;118;118;118;118;118;118;118;118;118;118;118	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	L	137;137;118;118;118	ENSP00000413857:M137L;ENSP00000380860:M118L;ENSP00000317272:M118L;ENSP00000410980:M118L	ENSP00000317272:M118L	M	+	1	0	MET	116126726	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.132000	0.50523	1.059000	0.40554	0.533000	0.62120	ATG		0.488	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			22	533	0	0	0	1	0	22	533				
ASXL1	171023	broad.mit.edu	37	20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1299					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3895-3897)gGc>gAc		additional sex combs like 1 (Drosophila)							67.0	66.0	66.0					20																	31024411		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024411G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3896G>A	20.37:g.31024411G>A	ENSP00000364839:p.Gly1299Asp					ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	p.G1299D	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	4320	+			1299					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3896G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838653	0.32513	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.26;2.25	4.56	3.61	0.41365	.	0.384664	0.29660	N	0.011527	T	0.11495	0.0280	L	0.36672	1.1	0.33225	D	0.555162	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09840	-1.0656	10	0.32370	T	0.25	-11.0831	5.8012	0.18414	0.0966:0.0:0.6978:0.2056	.	1294;1299	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	D	1299;1299;1299;1220;1294	ENSP00000364839:G1299D;ENSP00000305119:G1294D	ENSP00000305119:G1294D	G	+	2	0	ASXL1	30488072	0.928000	0.31464	0.995000	0.50966	0.412000	0.31113	0.863000	0.27913	1.531000	0.49152	0.561000	0.74099	GGC		0.557	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		66	326	0	0	0	1	0	66	326				
CYP4F12	66002	broad.mit.edu	37	19	15794373	15794373	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15794373C>A	ENST00000550308.1	+	7	1098	c.718C>A	c.(718-720)Ctc>Atc	p.L240I	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L240I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	240					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CCAGCATATCCTCCAGCACAT	0.562																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(718-720)Ctc>Atc		cytochrome P450, family 4, subfamily F, polypeptide 12							78.0	78.0	78.0					19																	15794373		2201	4299	6500	SO:0001583	missense	66002							g.chr19:15794373C>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.718C>A	19.37:g.15794373C>A	ENSP00000448998:p.Leu240Ile					CYP4F12_ENST00000324632.9_Missense_Mutation_p.L240I	p.L240I	NM_023944.3	NP_076433.3					7	1098	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.718C>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	6.064	0.380036	0.11466	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70164	-0.46;-0.46	2.46	1.4	0.22301	.	0.321305	0.24412	U	0.038749	T	0.53449	0.1797	L	0.47190	1.495	0.09310	N	1	B	0.24576	0.106	B	0.31337	0.128	T	0.35500	-0.9786	10	0.22706	T	0.39	.	4.9421	0.13971	0.0:0.69:0.0:0.31	.	240	Q9HCS2	CP4FC_HUMAN	I	240	ENSP00000448998:L240I;ENSP00000321821:L240I	ENSP00000321821:L240I	L	+	1	0	CYP4F12	15655373	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.706000	0.25690	0.477000	0.27464	0.484000	0.47621	CTC		0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			125	512	1	0	9.11594e-60	1	1.14538e-59	125	512				
SIPA1	6494	broad.mit.edu	37	11	65408899	65408899	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408899C>T	ENST00000394224.3	+	2	803	c.507C>T	c.(505-507)ctC>ctT	p.L169L	SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000527525.1_Silent_p.L169L|SIPA1_ENST00000534313.1_Silent_p.L169L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	169					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGTGTGAGCTCGGGGGTGAGG	0.677																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(505-507)ctC>ctT		signal-induced proliferation-associated 1							56.0	61.0	59.0					11																	65408899		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408899C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.507C>T	11.37:g.65408899C>T						SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000534313.1_Silent_p.L169L|SIPA1_ENST00000527525.1_Silent_p.L169L	p.L169L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	803	+			169					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.507C>T	CCDS8108.1																																																																																				0.677	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		46	401	0	0	0	1	0	46	401				
MICAL1	64780	broad.mit.edu	37	6	109768325	109768325	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768325G>T	ENST00000358807.3	-	17	2489	c.2178C>A	c.(2176-2178)acC>acA	p.T726T	MICAL1_ENST00000358577.3_Silent_p.T640T|MICAL1_ENST00000368952.4_Silent_p.T745T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	726	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGGCCTCACAGGTATGGCAGC	0.617																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2233-2235)acC>acA		microtubule associated monooxygenase, calponin and LIM domain containing 1							73.0	77.0	75.0					6																	109768325		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768325G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2178C>A	6.37:g.109768325G>T						MICAL1_ENST00000358807.3_Silent_p.T726T|MICAL1_ENST00000358577.3_Silent_p.T640T	p.T745T			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	17	2525	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	726			LIM zinc-binding.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2235C>A	CCDS5076.1																																																																																				0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		51	363	1	0	2.84144e-21	1	3.19776e-21	51	363				
DCTN1	1639	broad.mit.edu	37	2	74588664	74588664	+	Missense_Mutation	SNP	C	C	T	rs146083590	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74588664C>T	ENST00000361874.3	-	32	4116	c.3799G>A	c.(3799-3801)Gag>Aag	p.E1267K	DCTN1_ENST00000409868.1_Missense_Mutation_p.E1245K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E1225K|DCTN1_ENST00000409438.1_Missense_Mutation_p.E1128K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E1133K|DCTN1_ENST00000409567.3_Missense_Mutation_p.E1242K|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.E180K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E1260K	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1267					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGCAGCTGCTCCTGGGTCAGC	0.612													C|||	3	0.000599042	0.0	0.0	5008	,	,		17164	0.003		0.0	False		,,,				2504	0.0					ENST00000451608.2																			0											c.(538-540)Gag>Aag									111.0	85.0	94.0					2																	74588664		2203	4300	6503	SO:0001583	missense	0							g.chr2:74588664C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3799G>A	2.37:g.74588664C>T	ENSP00000354791:p.Glu1267Lys					DCTN1_ENST00000409438.1_Missense_Mutation_p.E1128K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E1245K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E1225K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E1133K|DCTN1_ENST00000361874.3_Missense_Mutation_p.E1267K|DCTN1_ENST00000409567.3_Missense_Mutation_p.E1242K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E1260K	p.E180K							5	537	-								A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.538G>A	CCDS1939.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	14.61	2.585508	0.46110	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.64	5.64	0.86602	.	0.000000	0.42294	D	0.000739	T	0.53433	0.1796	N	0.08118	0	0.35153	D	0.769999	B;B;B;B;B;B;P	0.35383	0.008;0.146;0.063;0.008;0.014;0.103;0.498	B;B;B;B;B;B;B	0.33454	0.004;0.038;0.017;0.004;0.004;0.039;0.164	T	0.66440	-0.5923	10	0.28530	T	0.3	-13.4458	18.4677	0.90761	0.0:1.0:0.0:0.0	.	1242;1225;1267;1260;1133;1128;1250	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	K	1267;1260;1250;1133;1128;1225;1245;1242	ENSP00000354791:E1267K;ENSP00000377571:E1260K;ENSP00000384844:E1133K;ENSP00000387270:E1128K;ENSP00000386406:E1225K;ENSP00000387327:E1245K;ENSP00000386843:E1242K	ENSP00000354791:E1267K	E	-	1	0	DCTN1	74442172	0.989000	0.36119	1.000000	0.80357	0.994000	0.84299	1.154000	0.31688	2.659000	0.90383	0.591000	0.81541	GAG		0.612	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		10	223	0	0	0	1	0	10	223				
WDR90	197335	broad.mit.edu	37	16	708595	708595	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708595C>A	ENST00000293879.4	+	23	2837	c.2837C>A	c.(2836-2838)gCc>gAc	p.A946D	WDR90_ENST00000549091.1_Missense_Mutation_p.A946D|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	946										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGCTGATTGCCGCCGGCCGG	0.672																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2836-2838)gCc>gAc		WD repeat domain 90							38.0	44.0	42.0					16																	708595		2058	4171	6229	SO:0001583	missense	197335							g.chr16:708595C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2837C>A	16.37:g.708595C>A	ENSP00000293879:p.Ala946Asp					WDR90_ENST00000293879.4_Missense_Mutation_p.A946D	p.A946D	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			23	2929	+		Hepatocellular(780;0.0218)	946					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2837C>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299650	0.60195	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.56444	0.46;3.32	5.42	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.75686	0.3883	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.80754	-0.1241	10	0.87932	D	0	.	13.2126	0.59834	0.0:0.9232:0.0:0.0768	.	946;946	F8VUX9;Q96KV7	.;WDR90_HUMAN	D	946	ENSP00000448122:A946D;ENSP00000293879:A946D	ENSP00000293879:A946D	A	+	2	0	WDR90	648596	1.000000	0.71417	0.010000	0.14722	0.000000	0.00434	6.960000	0.76036	1.294000	0.44707	-0.136000	0.14681	GCC		0.672	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		99	335	1	0	3.07327e-39	1	3.71448e-39	99	335				
TLR1	7096	broad.mit.edu	37	4	38800423	38800423	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800423G>T	ENST00000502213.2	-	3	259	c.30C>A	c.(28-30)atC>atA	p.I10I	TLR1_ENST00000308979.2_Silent_p.I10I			Q15399	TLR1_HUMAN	toll-like receptor 1	10					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTAACATGAAGATAATGGCAA	0.343																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(28-30)atC>atA		toll-like receptor 1							36.0	39.0	38.0					4																	38800423		2196	4293	6489	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800423G>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.30C>A	4.37:g.38800423G>T						TLR1_ENST00000502213.2_Silent_p.I10I	p.I10I	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	303	-			10					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.30C>A	CCDS33973.1																																																																																				0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			14	146	1	0	4.93089e-13	1	5.31412e-13	14	146				
TJP1	7082	broad.mit.edu	37	15	30065561	30065561	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30065561C>A	ENST00000346128.6	-	3	559		c.e3-1		TJP1_ENST00000356107.6_Splice_Site|TJP1_ENST00000400011.2_Splice_Site|TJP1_ENST00000545208.2_Splice_Site|TJP1_ENST00000495972.2_Splice_Site	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1						apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATCCAGGAGCCTAAAGTAAAA	0.318																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.e3-1		tight junction protein 1							81.0	73.0	76.0					15																	30065561		1812	4070	5882	SO:0001630	splice_region_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30065561C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.85-1G>T	15.37:g.30065561C>A						TJP1_ENST00000545208.2_Splice_Site|TJP1_ENST00000495972.2_Splice_Site|TJP1_ENST00000400011.2_Splice_Site|TJP1_ENST00000356107.6_Splice_Site		NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	3	559	-		all_lung(180;7.48e-11)|Breast(32;0.000153)						B4E3K1|Q2NKP3|Q4ZGJ6	Splice_Site	SNP	ENST00000346128.6	37		CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274696	0.40194	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7625	0.96325	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TJP1	27852853	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	7.701000	0.84566	2.749000	0.94314	0.585000	0.79938	.		0.318	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	Intron	50	287	1	0	1.86633e-21	1	2.10207e-21	50	287				
ACBD3	64746	broad.mit.edu	37	1	226347059	226347059	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226347059C>A	ENST00000366812.5	-	5	783	c.729G>T	c.(727-729)aaG>aaT	p.K243N	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	243	Gln-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTATCTGCTGCCTAAAAACAT	0.388																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.e5-1		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226347059C>A	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.729-1G>T	1.37:g.226347059C>A						ACBD3_ENST00000464927.1_Intron	p.K243_splice	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	5	783	-	Breast(184;0.158)		243			Gln-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	SNP	ENST00000366812.5	37	c.728_splice	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818545	0.71028	.	.	ENSG00000182827	ENST00000366812	T	0.47869	0.83	5.73	5.73	0.89815	.	0.095038	0.64402	D	0.000001	T	0.70937	0.3281	M	0.77820	2.39	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.72984	-0.4125	10	0.72032	D	0.01	.	19.8989	0.96978	0.0:1.0:0.0:0.0	.	243	Q9H3P7	GCP60_HUMAN	N	243	ENSP00000355777:K243N	ENSP00000355777:K243N	K	-	3	2	ACBD3	224413682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.500000	0.60387	2.706000	0.92434	0.555000	0.69702	AAG		0.388	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	Missense_Mutation	58	321	1	0	2.5401e-28	1	2.95449e-28	58	321				
FBLN5	10516	broad.mit.edu	37	14	92347762	92347762	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92347762T>G	ENST00000342058.4	-	9	1456	c.863A>C	c.(862-864)gAc>gCc	p.D288A	FBLN5_ENST00000267620.10_Splice_Site_p.D329A|FBLN5_ENST00000556154.1_Splice_Site_p.D293A	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	288	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTCGTTGATGTCTGAAATGCA	0.542																																						ENST00000267620.10																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.e10-1		fibulin 5							97.0	87.0	90.0					14																	92347762		2203	4300	6503	SO:0001630	splice_region_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92347762T>G	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.863-1A>C	14.37:g.92347762T>G						FBLN5_ENST00000342058.4_Splice_Site_p.D288_splice|FBLN5_ENST00000556154.1_Splice_Site_p.D293_splice	p.D329_splice			Q9UBX5	FBLN5_HUMAN			10	1155	-		all_cancers(154;0.0722)	288			EGF-like 6; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Splice_Site	SNP	ENST00000342058.4	37	c.985_splice	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834356	0.91036	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.99060	-5.38;-5.38;-5.38	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.996	D	0.99164	1.0862	10	0.87932	D	0	.	15.9091	0.79456	0.0:0.0:0.0:1.0	.	329;293;288	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	A	329;288;293	ENSP00000267620:D329A;ENSP00000345008:D288A;ENSP00000451982:D293A	ENSP00000267620:D385A	D	-	2	0	FBLN5	91417515	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.209000	0.71365	0.533000	0.62120	GAC		0.542	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1		Missense_Mutation	65	278	0	0	0	1	0	65	278				
CAPZA3	93661	broad.mit.edu	37	12	18891240	18891240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891240G>T	ENST00000317658.3	+	1	196	c.38G>T	c.(37-39)aGa>aTa	p.R13I	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	13					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GACAAGGAAAGAGTAATTCGC	0.428																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(37-39)aGa>aTa		capping protein (actin filament) muscle Z-line, alpha 3																																				SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891240G>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.38G>T	12.37:g.18891240G>T	ENSP00000326238:p.Arg13Ile						p.R13I	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	196	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	13					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.38G>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093371	0.20471	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.07	-7.43	0.01383	.	0.512970	0.18368	N	0.143357	T	0.54983	0.1892	M	0.68952	2.095	0.37809	D	0.92797	B	0.32425	0.371	B	0.32677	0.15	T	0.51364	-0.8715	9	0.87932	D	0	-1.1445	15.5084	0.75760	0.7512:0.0:0.2488:0.0	.	13	Q96KX2	CAZA3_HUMAN	I	13	.	ENSP00000326238:R13I	R	+	2	0	CAPZA3	18782507	0.000000	0.05858	0.587000	0.28692	0.476000	0.33039	-2.225000	0.01212	-1.571000	0.01663	-1.008000	0.02478	AGA		0.428	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		18	379	1	0	1.56452e-12	1	1.68123e-12	18	379				
MRPL48	51642	broad.mit.edu	37	11	73571043	73571043	+	Nonsense_Mutation	SNP	C	C	T	rs137907774	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73571043C>T	ENST00000310614.7	+	6	1119	c.463C>T	c.(463-465)Cga>Tga	p.R155*	MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*|MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*|MRPL48_ENST00000314282.7_Nonsense_Mutation_p.R56*|MRPL48_ENST00000542303.1_Intron	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	155						mitochondrial ribosome (GO:0005761)				kidney(1)	1						CACCCATGAGCGAGTGGTTCA	0.438																																						ENST00000314282.7																			0				kidney(1)	1						c.(166-168)Cga>Tga		mitochondrial ribosomal protein L48							59.0	57.0	58.0					11																	73571043		1899	4126	6025	SO:0001587	stop_gained	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73571043C>T	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.463C>T	11.37:g.73571043C>T	ENSP00000308717:p.Arg155*					MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_Nonsense_Mutation_p.R155*|MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*	p.R56*			Q96GC5	RM48_HUMAN			3	1517	+			155					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Nonsense_Mutation	SNP	ENST00000310614.7	37	c.166C>T	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	C	41	8.561256	0.98863	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000314282	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0739	12.9338	0.58303	0.1619:0.8381:0.0:0.0	rs11547693	.	.	.	X	155;137;56;56;56	.	ENSP00000308717:R155X	R	+	1	2	MRPL48	73248691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.776000	0.38594	2.937000	0.99478	0.650000	0.86243	CGA		0.438	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		23	107	0	0	0	1	0	23	107				
RDH11	51109	broad.mit.edu	37	14	68157882	68157882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68157882C>A	ENST00000381346.4	-	4	539	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D|RP11-1012A1.4_ENST00000553306.1_5'Flank|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	143					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTATGTGCATCTCAAAGCCAT	0.468																																						ENST00000381346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12						c.(427-429)gaG>gaT		retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						268.0	252.0	257.0					14																	68157882		2203	4300	6503	SO:0001583	missense	51109				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr14:68157882C>A	AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.429G>T	14.37:g.68157882C>A	ENSP00000370750:p.Glu143Asp					RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D	p.E143D	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN		all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	4	539	-			143					A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	c.429G>T	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244340	0.79912	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557726	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	6.07	2.0	0.26442	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	L	0.60455	1.87	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88357	0.2985	10	0.72032	D	0.01	.	9.6028	0.39615	0.0:0.6434:0.0:0.3566	.	143;130;143	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	D	143;130;143;42;91	ENSP00000370750:E143D;ENSP00000452079:E130D;ENSP00000416395:E143D;ENSP00000450802:E42D;ENSP00000450435:E91D	ENSP00000370750:E143D	E	-	3	2	RDH11	67227635	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.728000	0.47319	0.081000	0.16988	-0.482000	0.04802	GAG		0.468	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			36	1177	1	0	4.26978e-12	1	4.57227e-12	36	1177				
PCNT	5116	broad.mit.edu	37	21	47786808	47786808	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47786808C>T	ENST00000359568.5	+	15	3026	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	973					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTTGGAATCCTGTTACCTCT	0.542																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2917-2919)tcC>tcT		pericentrin							79.0	86.0	84.0					21																	47786808		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47786808C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2919C>T	21.37:g.47786808C>T						PCNT_ENST00000480896.1_3'UTR	p.S973S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			15	3026	+	Breast(49;0.112)		973					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2919C>T	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		20	570	0	0	0	1	0	20	570				
BAZ2A	11176	broad.mit.edu	37	12	57003607	57003607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57003607G>A	ENST00000551812.1	-	10	2204	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	BAZ2A_ENST00000179765.5_Missense_Mutation_p.R639W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R669W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	671	Lys-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTCGACCCCGTTTCACCTTG	0.522																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1915-1917)Cgg>Tgg		bromodomain adjacent to zinc finger domain, 2A							78.0	74.0	75.0					12																	57003607		1912	4128	6040	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57003607G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2011C>T	12.37:g.57003607G>A	ENSP00000446880:p.Arg671Trp					BAZ2A_ENST00000549884.1_Missense_Mutation_p.R669W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R671W	p.R639W			Q9UIF9	BAZ2A_HUMAN			11	2114	-			671					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1915C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045845	0.75846	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.02	4.1	0.47936	AT hook, DNA-binding motif (1);	0.122860	0.53938	D	0.000052	T	0.32315	0.0825	L	0.48642	1.525	0.46927	D	0.99925	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.928	T	0.04481	-1.0948	10	0.87932	D	0	.	11.8124	0.52189	0.0:0.0:0.6821:0.3179	.	669;671	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	W	641;639;671;669	ENSP00000368754:R641W;ENSP00000179765:R639W;ENSP00000446880:R671W;ENSP00000447941:R669W	ENSP00000179765:R639W	R	-	1	2	BAZ2A	55289874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.210000	0.65214	1.423000	0.47198	0.655000	0.94253	CGG		0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	149	0	0	0	1	0	7	149				
RAPGEF2	9693	broad.mit.edu	37	4	160251584	160251584	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160251584T>G	ENST00000264431.4	+	7	1337	c.918T>G	c.(916-918)ctT>ctG	p.L306L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	306	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGACTTTTCTTTCTAGCCCAA	0.383																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(916-918)ctT>ctG		Rap guanine nucleotide exchange factor (GEF) 2							140.0	132.0	135.0					4																	160251584		1827	4079	5906	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251584T>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.918T>G	4.37:g.160251584T>G							p.L306L	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1337	+	all_hematologic(180;0.24)		306			N-terminal Ras-GEF.		D3DP27	Silent	SNP	ENST00000264431.4	37	c.918T>G	CCDS43277.1																																																																																				0.383	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		97	455	0	0	0	1	0	97	455				
DNAH9	1770	broad.mit.edu	37	17	11556085	11556085	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11556085C>T	ENST00000262442.4	+	14	2429	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	DNAH9_ENST00000454412.2_Silent_p.C787C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	787	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.C787C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCATTTGCGATTATGTCA	0.358																																						ENST00000262442.3																			1	Substitution - coding silent(1)	p.C787C(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2359-2361)tgC>tgT		dynein, axonemal, heavy chain 9							93.0	92.0	93.0					17																	11556085		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11556085C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2361C>T	17.37:g.11556085C>T						DNAH9_ENST00000454412.2_Silent_p.C787C	p.C787C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	14	2429	+		Breast(5;0.0122)|all_epithelial(5;0.131)	787			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.2361C>T	CCDS11160.1																																																																																				0.358	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		65	342	0	0	0	1	0	65	342				
AREL1	9870	broad.mit.edu	37	14	75142633	75142633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75142633G>A	ENST00000356357.4	-	8	1364	c.849C>T	c.(847-849)atC>atT	p.I283I	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	283					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCGTTCGACGATATTCTTCT	0.413																																						ENST00000356357.4																			0											c.(847-849)atC>atT		apoptosis resistant E3 ubiquitin protein ligase 1							121.0	119.0	120.0					14																	75142633		1948	4139	6087	SO:0001819	synonymous_variant	9870							g.chr14:75142633G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.849C>T	14.37:g.75142633G>A						AREL1_ENST00000557401.1_5'UTR	p.I283I	NM_001039479.1	NP_001034568.1					8	1364	-								B4E2C7|Q7LDY1|Q8IYY9	Silent	SNP	ENST00000356357.4	37	c.849C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059960	0.19987	.	.	ENSG00000119682	ENST00000490805	.	.	.	5.87	-5.23	0.02798	.	.	.	.	.	T	0.65302	0.2678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66432	-0.5925	4	.	.	.	.	16.4977	0.84249	0.4531:0.0:0.5469:0.0	.	.	.	.	L	31	.	.	S	-	2	0	KIAA0317	74212386	0.999000	0.42202	0.626000	0.29213	0.977000	0.68977	0.941000	0.29005	-1.048000	0.03238	-0.469000	0.05056	TCG		0.413	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		127	584	0	0	0	1	0	127	584				
TRIM3	10612	broad.mit.edu	37	11	6478037	6478037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6478037G>A	ENST00000525074.1	-	6	1313	c.919C>T	c.(919-921)Cga>Tga	p.R307*	TRIM3_ENST00000345851.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000537602.1_Nonsense_Mutation_p.R229*|TRIM3_ENST00000536344.1_Nonsense_Mutation_p.R188*|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	307					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACCGATCGCCGCAGACCG	0.672																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(919-921)Cga>Tga		tripartite motif containing 3							68.0	62.0	64.0					11																	6478037		2184	4271	6455	SO:0001587	stop_gained	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478037G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.919C>T	11.37:g.6478037G>A	ENSP00000433102:p.Arg307*					TRIM3_ENST00000536344.1_Nonsense_Mutation_p.R188*|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000537602.1_Nonsense_Mutation_p.R229*|TRIM3_ENST00000345851.3_Nonsense_Mutation_p.R307*	p.R307*	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1313	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	307					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Nonsense_Mutation	SNP	ENST00000525074.1	37	c.919C>T	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	36	5.674684	0.96764	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	.	.	.	5.27	2.19	0.27852	.	0.106561	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-7.0912	12.9499	0.58394	0.0:0.0:0.4207:0.5793	.	.	.	.	X	307;307;307;307;296;229;307;188	.	ENSP00000337094:R296X	R	-	1	2	TRIM3	6434613	0.001000	0.12720	0.965000	0.40720	0.531000	0.34715	0.527000	0.22987	0.163000	0.19507	0.563000	0.77884	CGA		0.672	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		11	596	0	0	0	1	0	11	596				
PPARGC1A	10891	broad.mit.edu	37	4	23815376	23815376	+	Missense_Mutation	SNP	G	G	A	rs17847360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815376G>A	ENST00000264867.2	-	8	1849	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	577	Arg/Ser-rich.|Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCGGGAACACGACCTGTGTCG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		16960	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1729-1731)tCg>tTg		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha		G	LEU/SER	0,4406		0,0,2203	83.0	83.0	83.0		1730	6.2	1.0	4	dbSNP_123	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PPARGC1A	NM_013261.3	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	577/799	23815376	2,13004	2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815376G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1730C>T	4.37:g.23815376G>A	ENSP00000264867:p.Ser577Leu					PPARGC1A_ENST00000509702.1_5'UTR	p.S577L	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1849	-		Breast(46;0.0503)	577			Arg/Ser-rich.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1730C>T	CCDS3429.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.23	3.786916	0.70337	0.0	2.33E-4	ENSG00000109819	ENST00000264867	T	0.48201	0.82	6.16	6.16	0.99307	.	0.110926	0.64402	D	0.000005	T	0.72078	0.3416	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.69045	-0.5249	10	0.42905	T	0.14	-3.6221	20.8598	0.99761	0.0:0.0:1.0:0.0	rs17847360	577	Q9UBK2	PRGC1_HUMAN	L	577	ENSP00000264867:S577L	ENSP00000264867:S577L	S	-	2	0	PPARGC1A	23424474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.986000	0.93492	2.937000	0.99478	0.650000	0.86243	TCG		0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		74	255	0	0	0	1	0	74	255				
TNS3	64759	broad.mit.edu	37	7	47342835	47342835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47342835G>A	ENST00000398879.1	-	22	3536	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V|TNS3_ENST00000355730.3_Missense_Mutation_p.A817V			Q68CZ2	TENS3_HUMAN	tensin 3	1057					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGCCCCTGTCGCTGTCAGCGG	0.667																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3169-3171)gCg>gTg		tensin 3							16.0	20.0	19.0					7																	47342835		2022	4156	6178	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47342835G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3170C>T	7.37:g.47342835G>A	ENSP00000381854:p.Ala1057Val					TNS3_ENST00000355730.3_Missense_Mutation_p.A817V|TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V	p.A1057V			Q68CZ2	TENS3_HUMAN			22	3536	-			1057					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3170C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283027	0.23392	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.66	2.42	0.29668	.	1.979490	0.02117	N	0.055295	T	0.31827	0.0809	L	0.27053	0.805	0.09310	N	1	B	0.28880	0.226	B	0.20184	0.028	T	0.15954	-1.0419	10	0.22109	T	0.4	-5.5552	2.7835	0.05367	0.2537:0.0:0.5239:0.2224	.	1057	Q68CZ2	TENS3_HUMAN	V	1057;1167;1057;817;513;1160	ENSP00000312143:A1057V;ENSP00000381854:A1057V;ENSP00000347968:A817V;ENSP00000414358:A1160V	ENSP00000312143:A1057V	A	-	2	0	TNS3	47309360	0.033000	0.19621	0.003000	0.11579	0.095000	0.18619	2.044000	0.41241	0.718000	0.32166	0.555000	0.69702	GCG		0.667	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		18	162	0	0	0	1	0	18	162				
MRGPRD	116512	broad.mit.edu	37	11	68747857	68747857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68747857G>A	ENST00000309106.3	-	1	598	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	200						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACAAAGAGGGTCAGGCTGGA	0.592																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(598-600)aCc>aTc		MAS-related GPR, member D							48.0	44.0	45.0					11																	68747857		2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747857G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.599C>T	11.37:g.68747857G>A	ENSP00000310631:p.Thr200Ile						p.T200I	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	598	-			200					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.599C>T	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	6.465	0.453938	0.12283	.	.	ENSG00000172938	ENST00000309106	T	0.36340	1.26	4.87	-4.03	0.04021	GPCR, rhodopsin-like superfamily (1);	0.859950	0.09799	N	0.754331	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.27951	0.195	B	0.28916	0.096	T	0.34054	-0.9844	10	0.14252	T	0.57	-7.9404	7.0439	0.25035	0.6781:0.0:0.1932:0.1287	.	200	Q8TDS7	MRGRD_HUMAN	I	200	ENSP00000310631:T200I	ENSP00000310631:T200I	T	-	2	0	MRGPRD	68504433	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.983000	0.01488	-0.471000	0.06891	0.460000	0.39030	ACC		0.592	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		29	146	0	0	0	1	0	29	146				
CRMP1	1400	broad.mit.edu	37	4	5857930	5857930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5857930C>T	ENST00000397890.2	-	4	632	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CRMP1_ENST00000512574.1_Missense_Mutation_p.D138N|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.D254N	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	140					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTTGTGATGTCCACGTGGAGG	0.552																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(760-762)Gac>Aac		collapsin response mediator protein 1							122.0	103.0	109.0					4																	5857930		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5857930C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.418G>A	4.37:g.5857930C>T	ENSP00000380987:p.Asp140Asn					CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.D138N|CRMP1_ENST00000397890.2_Missense_Mutation_p.D140N	p.D254N	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	4	848	-			140					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.760G>A	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	c	18.20	3.571960	0.65765	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90004	-2.6;-2.6;-2.6	3.09	3.09	0.35607	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	M	0.64676	1.99	0.51233	D	0.999913	B;B;B;D	0.89917	0.34;0.447;0.226;1.0	B;B;B;D	0.97110	0.232;0.186;0.132;1.0	D	0.92602	0.6092	10	0.52906	T	0.07	-26.4066	13.358	0.60640	0.0:1.0:0.0:0.0	.	254;138;140;77	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	N	254;140;140;138	ENSP00000321606:D254N;ENSP00000380987:D140N;ENSP00000425742:D138N	ENSP00000321606:D254N	D	-	1	0	CRMP1	5908831	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.118000	0.77137	1.577000	0.49804	0.537000	0.68136	GAC		0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		60	226	0	0	0	1	0	60	226				
PANK4	55229	broad.mit.edu	37	1	2452547	2452547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2452547G>A	ENST00000378466.3	-	3	427	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	139					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CACTTCAGCCGCAGCTTCTCT	0.597																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(415-417)Cgg>Tgg		pantothenate kinase 4							85.0	80.0	82.0					1																	2452547		2203	4300	6503	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2452547G>A	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.415C>T	1.37:g.2452547G>A	ENSP00000367727:p.Arg139Trp					PANK4_ENST00000435556.3_Intron	p.R139W	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	3	427	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	139					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.415C>T	CCDS42.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225634	0.58668	.	.	ENSG00000157881	ENST00000378466	D	0.99527	-6.09	5.05	3.15	0.36227	.	1.063610	0.07258	N	0.866933	D	0.98273	0.9428	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.49301	0.606	D	0.93676	0.6994	10	0.87932	D	0	-7.9242	10.0179	0.42024	0.0:0.4167:0.4491:0.1343	.	139	Q9NVE7	PANK4_HUMAN	W	139	ENSP00000367727:R139W	ENSP00000367727:R139W	R	-	1	2	PANK4	2442407	0.112000	0.22096	0.637000	0.29366	0.859000	0.49053	2.617000	0.46385	0.510000	0.28216	-0.261000	0.10672	CGG		0.597	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			47	402	0	0	0	1	0	47	402				
JADE1	79960	broad.mit.edu	37	4	129783239	129783239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129783239G>A	ENST00000226319.6	+	9	1642	c.1362G>A	c.(1360-1362)tgG>tgA	p.W454*	PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAGTACTGGAAGTTGAAGA	0.502																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1360-1362)tgG>tgA									101.0	97.0	98.0					4																	129783239		2203	4300	6503	SO:0001587	stop_gained	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129783239G>A																												ENST00000226319.6:c.1362G>A	4.37:g.129783239G>A	ENSP00000226319:p.Trp454*					PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*	p.W454*	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1642	+			454						Nonsense_Mutation	SNP	ENST00000226319.6	37	c.1362G>A	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	36	5.869016	0.97049	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	.	.	.	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2619	0.60111	0.076:0.0:0.924:0.0	.	.	.	.	X	454;454;442;454;454;454	.	.	W	+	3	0	PHF17	130002689	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.901000	0.92560	1.347000	0.45714	0.655000	0.94253	TGG		0.502	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			100	352	0	0	0	1	0	100	352				
TBC1D2B	23102	broad.mit.edu	37	15	78305387	78305387	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78305387A>C	ENST00000300584.3	-	9	2047	c.2048T>G	c.(2047-2049)tTc>tGc	p.F683C	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.F683C	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	683	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTCCTTGAACTTCCTGGT	0.557																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2047-2049)tTc>tGc		TBC1 domain family, member 2B							125.0	97.0	107.0					15																	78305387		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78305387A>C	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2048T>G	15.37:g.78305387A>C	ENSP00000300584:p.Phe683Cys					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.F683C	p.F683C			Q9UPU7	TBD2B_HUMAN			9	2119	-			683			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2048T>G	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.32|16.32	3.089766|3.089766	0.55968|0.55968	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.11495|.	2.77;2.77|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Rab-GAP/TBC domain (4);|.	0.207578|.	0.51477|.	D|.	0.000086|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.41492|0.41492	1.28|1.28	0.48511|0.48511	D|D	0.999667|0.999667	D;P;D|.	0.63880|.	0.992;0.88;0.993|.	P;P;P|.	0.60173|.	0.794;0.694;0.87|.	T|T	0.56601|0.56601	-0.7952|-0.7952	10|5	0.56958|.	D|.	0.05|.	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	683;135;683|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	C|A	683|565	ENSP00000387165:F683C;ENSP00000300584:F683C|.	ENSP00000300584:F683C|.	F|S	-|-	2|1	0|0	TBC1D2B|TBC1D2B	76092442|76092442	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.296000|0.296000	0.27459|0.27459	5.797000|5.797000	0.69087|0.69087	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.557	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		28	154	0	0	0	1	0	28	154				
MRTO4	51154	broad.mit.edu	37	1	19585280	19585280	+	Missense_Mutation	SNP	G	G	A	rs146948534	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19585280G>A	ENST00000330263.4	+	8	973	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	226					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGAGAGCGCATCTGAGTC	0.507													.|||	12	0.00239617	0.0	0.0	5008	,	,		16911	0.0		0.0	False		,,,				2504	0.0123				GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(676-678)Gca>Aca		mRNA turnover 4 homolog (S. cerevisiae)		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	70.0	69.0	69.0		676	0.7	0.0	1	dbSNP_134	69	0,8600		0,0,4300	no	missense	MRTO4	NM_016183.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	226/240	19585280	1,13005	2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19585280G>A	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.676G>A	1.37:g.19585280G>A	ENSP00000364320:p.Ala226Thr						p.A226T	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	8	973	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	226					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.676G>A	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497115	0.26861	2.27E-4	0.0	ENSG00000053372	ENST00000330263	.	.	.	5.31	0.673	0.17941	.	1.141820	0.06171	N	0.677709	T	0.39627	0.1085	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28038	-1.0056	9	0.14252	T	0.57	-6.6866	8.487	0.33078	0.3954:0.0:0.6046:0.0	.	226	Q9UKD2	MRT4_HUMAN	T	226	.	ENSP00000364320:A226T	A	+	1	0	MRTO4	19457867	0.002000	0.14202	0.005000	0.12908	0.180000	0.23129	1.055000	0.30467	0.308000	0.22923	0.591000	0.81541	GCA		0.507	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		57	201	0	0	0	1	0	57	201				
P4HTM	54681	broad.mit.edu	37	3	49042591	49042591	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042591C>T	ENST00000383729.4	+	6	1444				P4HTM_ENST00000343546.4_Silent_p.H395H|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CAGGAGATCACTGGGTTATCC	0.587																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1183-1185)caC>caT		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						43.0	40.0	41.0					3																	49042591		2203	4300	6503	SO:0001627	intron_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042591C>T		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1073+112C>T	3.37:g.49042591C>T						P4HTM_ENST00000383729.4_Intron	p.H395H	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			6	1553	+			324			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.1185C>T	CCDS43089.1																																																																																				0.587	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	214	0	0	0	1	0	5	214				
ZYX	7791	broad.mit.edu	37	7	143079468	143079468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079468G>A	ENST00000322764.5	+	3	681	c.336G>A	c.(334-336)gaG>gaA	p.E112E	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Silent_p.E56E|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	112					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGAGGAGGAGATCTTCCCTT	0.706																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(334-336)gaG>gaA		zyxin							18.0	19.0	19.0					7																	143079468		2203	4297	6500	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079468G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.336G>A	7.37:g.143079468G>A						ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Silent_p.E56E	p.E112E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			3	681	+	Melanoma(164;0.205)		112					A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.336G>A	CCDS5883.1																																																																																				0.706	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		7	117	0	0	0	1	0	7	117				
ADH1A	124	broad.mit.edu	37	4	100208091	100208091	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100208091C>A	ENST00000209668.2	-	3	288	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	59					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGGGGTCACCATGGTACCA	0.488																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(175-177)Gtg>Ttg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						181.0	161.0	168.0					4																	100208091		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208091C>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.175G>T	4.37:g.100208091C>A	ENSP00000209668:p.Val59Leu					RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.V59L	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	288	-			59					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.175G>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129175	0.08981	.	.	ENSG00000187758	ENST00000209668	T	0.04551	3.6	2.79	-1.21	0.09524	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.209390	0.05695	N	0.593050	T	0.02267	0.0070	N	0.02266	-0.62	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.46091	-0.9216	10	0.87932	D	0	-0.0363	5.046	0.14485	0.1436:0.5154:0.0:0.341	.	59	P07327	ADH1A_HUMAN	L	59	ENSP00000209668:V59L	ENSP00000209668:V59L	V	-	1	0	ADH1A	100427114	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.817000	0.00359	-0.258000	0.09446	0.460000	0.39030	GTG		0.488	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		152	595	1	0	3.75851e-85	1	4.81663e-85	152	595				
HES6	55502	broad.mit.edu	37	2	239147804	239147804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239147804C>T	ENST00000409160.3	-	3	706	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	HES6_ENST00000409574.1_Missense_Mutation_p.R100H|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409182.1_Silent_p.T84T	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2			hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGGCCTGGCACGTGGACACGA	0.672																																						ENST00000409160.3																			0				lung(1)|skin(1)	2						c.(574-576)Gtg>Atg		hes family bHLH transcription factor 6							28.0	27.0	27.0					2																	239147804		2199	4292	6491	SO:0001583	missense	55502				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr2:239147804C>T	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"""Basic helix-loop-helix proteins"""	18254	protein-coding gene	gene with protein product		610331	"""hairy and enhancer of split 6 (Drosophila)"""			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000409160.3:c.574G>A	2.37:g.239147804C>T	ENSP00000387215:p.Val192Met					HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000409182.1_Silent_p.T84T|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409574.1_Missense_Mutation_p.R100H	p.V192M	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)	3	706	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0						Missense_Mutation	SNP	ENST00000409160.3	37	c.574G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.26|18.26	3.583903|3.583903	0.65992|0.65992	.|.	.|.	ENSG00000144485|ENSG00000144485	ENST00000409574|ENST00000409160	T|T	0.74421|0.76448	-0.84|-1.02	3.56|3.56	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	T|T	0.80544|0.80544	0.4643|0.4643	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.57468	.|0.821	T|T	0.80643|0.80643	-0.1291|-0.1291	6|8	0.62326|0.87932	D|D	0.03|0	.|.	5.4746|5.4746	0.16688|0.16688	0.1954:0.5149:0.2897:0.0|0.1954:0.5149:0.2897:0.0	.|.	.|192	.|Q96HZ4-2	.|.	H|M	100|192	ENSP00000387008:R100H|ENSP00000387215:V192M	ENSP00000387008:R100H|ENSP00000387215:V192M	R|V	-|-	2|1	0|0	HES6|HES6	238812543|238812543	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.481000|0.481000	0.22260|0.22260	1.771000|1.771000	0.52183|0.52183	0.290000|0.290000	0.19541|0.19541	CGT|GTG		0.672	HES6-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328359.1	NM_018645		23	237	0	0	0	1	0	23	237				
TEX43	389320	broad.mit.edu	37	5	125971724	125971724	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125971724C>T	ENST00000357147.3	+	3	209	c.196C>T	c.(196-198)Caa>Taa	p.Q66*		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		66										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TTTCTCTTAGCAAGCAGAAGT	0.403																																						ENST00000357147.3																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.e3-1		chromosome 5 open reading frame 48							130.0	136.0	134.0					5																	125971724		2203	4300	6503	SO:0001630	splice_region_variant	389320							g.chr5:125971724C>T																												ENST00000357147.3:c.196-1C>T	5.37:g.125971724C>T							p.Q66_splice	NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN			3	209	+			66						Splice_Site	SNP	ENST00000357147.3	37	c.195_splice	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942344	0.34283	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.29	2.4	0.29515	.	0.965309	0.08542	N	0.930383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.9417	11.0187	0.47705	0.3391:0.6609:0.0:0.0	.	.	.	.	X	66	.	.	Q	+	1	0	C5orf48	125999623	0.639000	0.27234	0.152000	0.22495	0.012000	0.07955	0.640000	0.24705	0.485000	0.27652	0.462000	0.41574	CAA		0.403	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1		Nonsense_Mutation	37	865	0	0	0	1	0	37	865				
SRGAP1	57522	broad.mit.edu	37	12	64536219	64536219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536219C>A	ENST00000355086.3	+	22	3549	c.3025C>A	c.(3025-3027)Ctc>Atc	p.L1009I	SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1009					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACGGAATCTCTCAGCCCTTT	0.547																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3025-3027)Ctc>Atc		SLIT-ROBO Rho GTPase activating protein 1							132.0	100.0	111.0					12																	64536219		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536219C>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3025C>A	12.37:g.64536219C>A	ENSP00000347198:p.Leu1009Ile					SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I	p.L1009I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3549	+			1009					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3025C>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130120	0.37630	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.34072	1.38;1.38;1.38	6.04	4.22	0.49857	.	0.269262	0.18965	U	0.126300	T	0.29817	0.0745	L	0.50333	1.59	0.47407	D	0.999413	P;B	0.37330	0.59;0.321	B;B	0.34590	0.186;0.086	T	0.03259	-1.1055	9	.	.	.	.	8.9068	0.35528	0.0:0.7426:0.1247:0.1326	.	1009;946	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	I	1009;986;946	ENSP00000347198:L1009I;ENSP00000350480:L986I;ENSP00000437948:L946I	.	L	+	1	0	SRGAP1	62822486	0.974000	0.33945	0.925000	0.36789	0.009000	0.06853	2.468000	0.45102	0.883000	0.36040	-0.302000	0.09304	CTC		0.547	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			11	336	1	0	1.49906e-05	1	1.53515e-05	11	336				
MUS81	80198	broad.mit.edu	37	11	65632028	65632028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65632028G>A	ENST00000308110.4	+	11	1469	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I	MUS81_ENST00000533035.1_Missense_Mutation_p.V299I|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	374					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCATGGTTCCGTCCACAACCT	0.637								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1120-1122)Gtc>Atc	Homologous recombination	MUS81 structure-specific endonuclease subunit							119.0	88.0	99.0					11																	65632028		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65632028G>A		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1120G>A	11.37:g.65632028G>A	ENSP00000307853:p.Val374Ile					MUS81_ENST00000533035.1_Missense_Mutation_p.V299I	p.V374I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	11	1469	+			374					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.1120G>A	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.07|10.07	1.250794|1.250794	0.22880|0.22880	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.21734	.|1.99;1.99	5.91|5.91	1.65|1.65	0.23941|0.23941	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	.|0.538442	.|0.20786	.|N	.|0.085704	T|T	0.08223|0.08223	0.0205|0.0205	N|N	0.11427|0.11427	0.14|0.14	0.09310|0.09310	N|N	1|1	.|B	.|0.33807	.|0.426	.|B	.|0.19666	.|0.026	T|T	0.32295|0.32295	-0.9912|-0.9912	5|10	.|0.22706	.|T	.|0.39	-1.4659|-1.4659	9.3054|9.3054	0.37872|0.37872	0.312:0.0:0.688:0.0|0.312:0.0:0.688:0.0	.|.	.|374	.|Q96NY9	.|MUS81_HUMAN	H|I	299|299;374;374	.|ENSP00000432287:V299I;ENSP00000307853:V374I	.|ENSP00000307853:V374I	R|V	+|+	2|1	0|0	MUS81|MUS81	65388604|65388604	0.030000|0.030000	0.19436|0.19436	0.000000|0.000000	0.03702|0.03702	0.568000|0.568000	0.35870|0.35870	2.068000|2.068000	0.41471|0.41471	0.052000|0.052000	0.16007|0.16007	0.555000|0.555000	0.69702|0.69702	CGT|GTC		0.637	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		51	230	0	0	0	1	0	51	230				
SCARB1	949	broad.mit.edu	37	12	125302125	125302125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125302125C>A	ENST00000415380.2	-	2	380	c.255G>T	c.(253-255)caG>caT	p.Q85H	SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H|SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000339570.5_Missense_Mutation_p.Q85H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	85					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTCCCGCACCTGCGGCTTCT	0.622																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(253-255)caG>caT		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						53.0	55.0	54.0					12																	125302125		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125302125C>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.255G>T	12.37:g.125302125C>A	ENSP00000414979:p.Gln85His					SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.Q85H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H	p.Q85H	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	2	451	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		85					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.255G>T		.	.	.	.	.	.	.	.	.	.	C	7.826	0.718797	0.15372	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.44	-1.23	0.09465	.	0.865179	0.10224	N	0.700512	T	0.60038	0.2238	L	0.45228	1.405	0.20307	N	0.999919	P;P;P;P;P;P	0.41597	0.635;0.756;0.635;0.635;0.537;0.712	P;P;P;P;B;P	0.45681	0.49;0.49;0.468;0.468;0.358;0.456	T	0.51140	-0.8743	10	0.30854	T	0.27	-6.4271	2.2086	0.03942	0.1203:0.4056:0.1176:0.3566	.	44;85;85;85;85;85	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	H	85;85;85;85;44;31;48;85	ENSP00000343795:Q85H;ENSP00000414979:Q85H;ENSP00000261693:Q85H;ENSP00000442862:Q85H;ENSP00000446107:Q44H;ENSP00000444851:Q31H;ENSP00000443286:Q48H;ENSP00000443454:Q85H	ENSP00000261693:Q85H	Q	-	3	2	SCARB1	123868078	0.067000	0.21026	0.604000	0.28916	0.248000	0.25809	0.469000	0.22067	0.270000	0.21984	-0.266000	0.10368	CAG		0.622	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		71	265	1	0	1.50372e-20	1	1.68596e-20	71	265				
RNF170	81790	broad.mit.edu	37	8	42725169	42725169	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42725169G>T	ENST00000534961.1	-	4	776	c.300C>A	c.(298-300)acC>acA	p.T100T	RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000526349.1_Silent_p.T16T|RNF170_ENST00000319073.4_Missense_Mutation_p.P29Q|RNF170_ENST00000527424.1_Silent_p.T100T	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	100					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTCCACAGTTGGTCTCCACCG	0.483																																						ENST00000319073.4																			0				lung(3)	3						c.(85-87)cCa>cAa		ring finger protein 170							158.0	129.0	139.0					8																	42725169		2203	4300	6503	SO:0001819	synonymous_variant	81790					integral to membrane	zinc ion binding	g.chr8:42725169G>T	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"""RING-type (C3HC4) zinc fingers"""	25358	protein-coding gene	gene with protein product		614649	"""sensory ataxia 1 (autosomal dominant)"""	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.300C>A	8.37:g.42725169G>T						RNF170_ENST00000534961.1_Silent_p.T100T|RNF170_ENST00000527424.1_Silent_p.T100T|RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000526349.1_Silent_p.T16T	p.P29Q			Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		4	546	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	0					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Missense_Mutation	SNP	ENST00000534961.1	37	c.86C>A	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	G	7.860	0.725791	0.15439	.	.	ENSG00000120925	ENST00000319073	T	0.80123	-1.34	5.63	-11.3	0.00108	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.22591	N	0.998954	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	8	0.32370	T	0.25	-4.8576	11.8869	0.52608	0.0:0.1664:0.5815:0.2521	.	29	Q96K19-4	.	Q	29	ENSP00000325969:P29Q	ENSP00000325969:P29Q	P	-	2	0	RNF170	42844326	0.236000	0.23804	0.671000	0.29857	0.242000	0.25591	-0.794000	0.04584	-1.920000	0.01069	-1.085000	0.02201	CCA		0.483	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		28	136	1	0	6.38683e-12	1	6.83756e-12	28	136				
BOC	91653	broad.mit.edu	37	3	112998114	112998114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112998114G>T	ENST00000495514.1	+	12	2536	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000355385.3_Missense_Mutation_p.R611M|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	611	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTCCCGACAGGCCCACCATC	0.587																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1831-1833)aGg>aTg		BOC cell adhesion associated, oncogene regulated							72.0	60.0	64.0					3																	112998114		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998114G>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1832G>T	3.37:g.112998114G>T	ENSP00000418663:p.Arg611Met					BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.R611M	p.R611M			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		12	2536	+			611			Fibronectin type-III 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1832G>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402861	0.83230	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57907	0.37;0.37;0.37	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.116716	0.64402	D	0.000017	T	0.74764	0.3759	M	0.78285	2.405	0.48236	D	0.999612	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.75473	-0.3305	10	0.51188	T	0.08	.	19.4878	0.95037	0.0:0.0:1.0:0.0	.	612;611	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	M	611;612;611	ENSP00000418663:R611M;ENSP00000273395:R612M;ENSP00000347546:R611M	ENSP00000273395:R612M	R	+	2	0	BOC	114480804	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.240000	0.78192	2.596000	0.87737	0.563000	0.77884	AGG		0.587	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		39	240	1	0	1.59361e-14	1	1.73214e-14	39	240				
KIF2B	84643	broad.mit.edu	37	17	51900714	51900714	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900714G>T	ENST00000268919.4	+	1	476	c.320G>T	c.(319-321)aGg>aTg	p.R107M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCGGCCATCAGGGACCAGCGT	0.607																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(319-321)aGg>aTg		kinesin family member 2B							84.0	92.0	89.0					17																	51900714		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900714G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.320G>T	17.37:g.51900714G>T	ENSP00000268919:p.Arg107Met						p.R107M	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	476	+			107					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.320G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	3.971	-0.008450	0.07727	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74526	-0.85	5.11	4.14	0.48551	.	0.973510	0.08370	N	0.956337	T	0.64148	0.2572	L	0.32530	0.975	0.09310	N	1	P	0.35077	0.483	B	0.31245	0.126	T	0.54523	-0.8281	10	0.44086	T	0.13	.	11.1089	0.48221	0.0897:0.0:0.9103:0.0	.	107	Q8N4N8	KIF2B_HUMAN	M	107;30	ENSP00000268919:R107M	ENSP00000268919:R107M	R	+	2	0	KIF2B	49255713	0.593000	0.26840	0.161000	0.22692	0.009000	0.06853	2.552000	0.45828	2.798000	0.96311	0.655000	0.94253	AGG		0.607	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		146	633	1	0	1.88352e-63	1	2.37737e-63	146	633				
PNPLA6	10908	broad.mit.edu	37	19	7606952	7606952	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7606952A>G	ENST00000221249.6	+	13	1565	c.1134A>G	c.(1132-1134)tcA>tcG	p.S378S	PNPLA6_ENST00000414982.3_Splice_Site_p.S426S|PNPLA6_ENST00000600737.1_Splice_Site_p.S417S|PNPLA6_ENST00000450331.3_Splice_Site_p.S378S|PNPLA6_ENST00000545201.2_Splice_Site_p.S378S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	417					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGACATCTCAGGTTTGGAGC	0.602																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.e13+1		patatin-like phospholipase domain containing 6							40.0	39.0	40.0					19																	7606952		2203	4300	6503	SO:0001630	splice_region_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7606952A>G	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1135+1A>G	19.37:g.7606952A>G						PNPLA6_ENST00000545201.2_Splice_Site_p.S378_splice|PNPLA6_ENST00000600737.1_Splice_Site_p.S417_splice|PNPLA6_ENST00000450331.3_Splice_Site_p.S378_splice|PNPLA6_ENST00000414982.3_Splice_Site_p.S426_splice	p.S378_splice	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			13	1565	+			417					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Splice_Site	SNP	ENST00000221249.6	37	c.1135_splice	CCDS32891.1																																																																																				0.602	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	Silent	58	237	0	0	0	1	0	58	237				
HIST1H1T	3010	broad.mit.edu	37	6	26108109	26108109	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108109G>A	ENST00000338379.4	-	1	255	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	71	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGCCAGCAGCGGCCAATGCCT	0.522																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(211-213)gcC>gcT		histone cluster 1, H1t							130.0	117.0	122.0					6																	26108109		2203	4300	6503	SO:0001819	synonymous_variant	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26108109G>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.213C>T	6.37:g.26108109G>A							p.A71A	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	255	-			71			H15.		Q6ISI1|Q8IUE8	Silent	SNP	ENST00000338379.4	37	c.213C>T	CCDS34349.1																																																																																				0.522	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		103	376	0	0	0	1	0	103	376				
QSOX1	5768	broad.mit.edu	37	1	180155237	180155237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180155237C>T	ENST00000367602.3	+	8	1011	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	QSOX1_ENST00000367600.5_Missense_Mutation_p.R313W			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	313					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.R313W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTACATCCTGCGGATAGAAGT	0.557																																						ENST00000367602.3																			1	Substitution - Missense(1)	p.R313W(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(937-939)Cgg>Tgg		quiescin Q6 sulfhydryl oxidase 1							102.0	97.0	98.0					1																	180155237		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180155237C>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.937C>T	1.37:g.180155237C>T	ENSP00000356574:p.Arg313Trp					QSOX1_ENST00000367600.5_Missense_Mutation_p.R313W	p.R313W			O00391	QSOX1_HUMAN			8	1011	+			313					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.937C>T	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449011	0.84101	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.17528	3.46;2.27	5.39	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.87900	2.915	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.924;1.0	T	0.51803	-0.8659	10	0.59425	D	0.04	-23.017	13.817	0.63299	0.1539:0.8461:0.0:0.0	.	313;313;313	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	W	313	ENSP00000356574:R313W;ENSP00000356572:R313W	ENSP00000356572:R313W	R	+	1	2	QSOX1	178421860	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	1.971000	0.40530	2.518000	0.84900	0.561000	0.74099	CGG		0.557	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		35	358	0	0	0	1	0	35	358				
TAPBPL	55080	broad.mit.edu	37	12	6567973	6567973	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6567973G>T	ENST00000266556.7	+	5	1232	c.1067G>T	c.(1066-1068)aGg>aTg	p.R356M	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	356	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCAGCCTCAGGCAAAGCGTG	0.597																																						ENST00000266556.7																			0				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						c.(1066-1068)aGg>aTg		TAP binding protein-like							96.0	86.0	90.0					12																	6567973		2203	4300	6503	SO:0001583	missense	55080				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		g.chr12:6567973G>T	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1067G>T	12.37:g.6567973G>T	ENSP00000266556:p.Arg356Met					TAPBPL_ENST00000545700.1_3'UTR	p.R356M	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN			5	1232	+			356			Ig-like C1-type.		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	c.1067G>T	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309243	0.81247	.	.	ENSG00000139192	ENST00000266556	T	0.02916	4.11	5.22	5.22	0.72569	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	L	0.55990	1.75	0.47994	D	0.999564	D	0.71674	0.998	D	0.70935	0.971	T	0.00192	-1.1935	10	0.87932	D	0	-24.2099	14.6634	0.68891	0.0:0.0:1.0:0.0	.	356	Q9BX59	TPSNR_HUMAN	M	356	ENSP00000266556:R356M	ENSP00000266556:R356M	R	+	2	0	TAPBPL	6438234	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.395000	0.73228	2.603000	0.88011	0.650000	0.86243	AGG		0.597	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		60	265	1	0	1.22119e-34	1	1.45331e-34	60	265				
PMEPA1	56937	broad.mit.edu	37	20	56227286	56227286	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227286C>A	ENST00000341744.3	-	4	1006	c.687G>T	c.(685-687)ccG>ccT	p.P229P	PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000265626.4_Silent_p.P179P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	229					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGTAGGTGGGCGGCGGCCCCT	0.716																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(685-687)ccG>ccT		prostate transmembrane protein, androgen induced 1							13.0	16.0	15.0					20																	56227286		2193	4289	6482	SO:0001819	synonymous_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227286C>A	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.687G>T	20.37:g.56227286C>A						PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P	p.P229P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	1006	-			229					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	c.687G>T	CCDS13463.1																																																																																				0.716	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		29	104	1	0	4.59853e-10	1	4.86106e-10	29	104				
NEK11	79858	broad.mit.edu	37	3	130851590	130851590	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130851590A>G	ENST00000510769.1	+	5	710	c.457A>G	c.(457-459)Agg>Ggg	p.R153G	NEK11_ENST00000412440.2_Splice_Site_p.R5G|NEK11_ENST00000429253.2_Splice_Site_p.R153G|NEK11_ENST00000383366.4_Splice_Site_p.R153G|NEK11_ENST00000508196.1_Splice_Site_p.R153G|NEK11_ENST00000507910.1_Splice_Site_p.R153G|NEK11_ENST00000356918.4_Splice_Site_p.R153G|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Splice_Site_p.R153G|NEK11_ENST00000511262.1_Splice_Site_p.R153G					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTTTTGTAGGAGGATACTTCA	0.274																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.e6-1		NIMA-related kinase 11							40.0	40.0	40.0					3																	130851590		2188	4259	6447	SO:0001630	splice_region_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130851590A>G	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.456-1A>G	3.37:g.130851590A>G						NEK11_ENST00000510769.1_Splice_Site_p.R153_splice|NEK11_ENST00000511262.1_Splice_Site_p.R153_splice|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Splice_Site_p.R153_splice|NEK11_ENST00000356918.4_Splice_Site_p.R153_splice|NEK11_ENST00000507910.1_Splice_Site_p.R153_splice|NEK11_ENST00000508196.1_Splice_Site_p.R153_splice|NEK11_ENST00000412440.2_Splice_Site_p.R5_splice|NEK11_ENST00000429253.2_Splice_Site_p.R153_splice	p.R153_splice	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			6	750	+			153			Protein kinase.			Splice_Site	SNP	ENST00000510769.1	37	c.455_splice		.	.	.	.	.	.	.	.	.	.	A	16.34	3.094369	0.56075	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;3.18;1.4;1.4	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236288	0.28964	N	0.013571	T	0.19087	0.0458	N	0.00885	-1.115	0.52099	D	0.999945	B;P;B;B;B;B;B	0.47762	0.242;0.9;0.304;0.284;0.096;0.117;0.02	B;P;B;B;B;B;B	0.47645	0.093;0.553;0.114;0.175;0.042;0.071;0.028	T	0.46005	-0.9222	10	0.62326	D	0.03	.	13.7638	0.62981	1.0:0.0:0.0:0.0	.	153;153;5;153;153;153;153	Q8NG66-3;E9PHI8;B4DDN2;B4DM56;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;.;NEK11_HUMAN;.	G	153;153;153;153;153;153;5;153;153	ENSP00000421549:R153G;ENSP00000397180:R153G;ENSP00000349389:R153G;ENSP00000423458:R153G;ENSP00000425114:R153G;ENSP00000372857:R153G;ENSP00000411888:R5G;ENSP00000426662:R153G;ENSP00000421851:R153G	ENSP00000349389:R153G	R	+	1	2	NEK11	132334280	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.431000	0.34925	2.202000	0.70862	0.528000	0.53228	AGG		0.274	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800	Missense_Mutation	6	42	0	0	0	1	0	6	42				
MCM3AP	8888	broad.mit.edu	37	21	47697518	47697518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47697518G>A	ENST00000397708.1	-	6	2035	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	594					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCCTATCAGGGTACTGAGGGA	0.572																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(1780-1782)aCc>aTc		minichromosome maintenance complex component 3 associated protein							155.0	131.0	139.0					21																	47697518		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47697518G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1781C>T	21.37:g.47697518G>A	ENSP00000380820:p.Thr594Ile					MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I	p.T594I			O60318	MCM3A_HUMAN			6	2035	-	Breast(49;0.112)		594					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1781C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	8.435	0.849474	0.17034	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03553	3.89;3.89	5.74	4.81	0.61882	.	1.098820	0.06689	N	0.769359	T	0.05181	0.0138	L	0.44542	1.39	0.21527	N	0.99966	B	0.12630	0.006	B	0.17098	0.017	T	0.33240	-0.9876	10	0.28530	T	0.3	-0.202	8.6736	0.34165	0.0:0.1341:0.6186:0.2473	.	594	O60318	MCM3A_HUMAN	I	594	ENSP00000380820:T594I;ENSP00000291688:T594I	ENSP00000291688:T594I	T	-	2	0	MCM3AP	46521946	0.922000	0.31269	0.073000	0.20177	0.298000	0.27526	1.328000	0.33758	2.715000	0.92844	0.655000	0.94253	ACC		0.572	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		48	492	0	0	0	1	0	48	492				
PRKD3	23683	broad.mit.edu	37	2	37509738	37509738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509738C>T	ENST00000379066.1	-	7	1697	c.935G>A	c.(934-936)cGc>cAc	p.R312H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H			O94806	KPCD3_HUMAN	protein kinase D3	312					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGATGCACAGCGTTTATGGCA	0.313																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(934-936)cGc>cAc		protein kinase D3							114.0	114.0	114.0					2																	37509738		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37509738C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.935G>A	2.37:g.37509738C>T	ENSP00000368356:p.Arg312His					PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H	p.R312H			O94806	KPCD3_HUMAN			7	1697	-		all_hematologic(82;0.21)	312					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.935G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579135	0.96565	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.93604	-3.25;-3.25	5.51	5.51	0.81932	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.83275	0.847;0.996	D	0.96357	0.9263	10	0.87932	D	0	-14.1888	19.7654	0.96337	0.0:1.0:0.0:0.0	.	312;312	O94806-2;O94806	.;KPCD3_HUMAN	H	312	ENSP00000368356:R312H;ENSP00000234179:R312H	ENSP00000234179:R312H	R	-	2	0	PRKD3	37363242	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	CGC		0.313	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		99	316	0	0	0	1	0	99	316				
GABRB2	2561	broad.mit.edu	37	5	160757956	160757956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160757956G>A	ENST00000393959.1	-	8	1010	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000517901.1_Silent_p.R274R|GABRB2_ENST00000274547.2_Silent_p.R337R|GABRB2_ENST00000353437.6_Silent_p.R337R|GABRB2_ENST00000520240.1_Silent_p.R337R			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	337					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTCTTTTGGCGTTGGGGCC	0.502																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1009-1011)cgC>cgT		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						94.0	98.0	97.0					5																	160757956		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160757956G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1011C>T	5.37:g.160757956G>A						GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000517901.1_Silent_p.R274R|GABRB2_ENST00000520240.1_Silent_p.R337R|GABRB2_ENST00000393959.1_Silent_p.R337R|GABRB2_ENST00000353437.6_Silent_p.R337R	p.R337R	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1228	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	337					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.1011C>T	CCDS4355.1																																																																																				0.502	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			119	537	0	0	0	1	0	119	537				
MYT1	4661	broad.mit.edu	37	20	62850260	62850260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62850260G>A	ENST00000536311.1	+	12	2288	c.1924G>A	c.(1924-1926)Gca>Aca	p.A642T	MYT1_ENST00000328439.1_Intron|MYT1_ENST00000360149.4_Intron			Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATCCTCTTCTGCAGGCTTTGA	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1924-1926)Gca>Aca		myelin transcription factor 1							87.0	86.0	86.0					20																	62850260		2203	4299	6502	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62850260G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000536311.1:c.1924G>A	20.37:g.62850260G>A	ENSP00000442412:p.Ala642Thr					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Intron	p.A642T			Q01538	MYT1_HUMAN			12	2288	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		616					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000536311.1	37	c.1924G>A		.	.	.	.	.	.	.	.	.	.	G	12.34	1.908347	0.33721	.	.	ENSG00000196132	ENST00000536311	T	0.49432	0.78	5.49	0.994	0.19832	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07654	-1.0761	8	0.48119	T	0.1	.	5.192	0.15214	0.5279:0.0:0.3304:0.1418	.	642	F5H7M8	.	T	642	ENSP00000442412:A642T	ENSP00000442412:A642T	A	+	1	0	MYT1	62320704	0.001000	0.12720	0.695000	0.30226	0.942000	0.58702	-0.054000	0.11826	0.008000	0.14787	0.655000	0.94253	GCA		0.577	MYT1-202	KNOWN	basic	protein_coding	protein_coding		NM_004535		126	486	0	0	0	1	0	126	486				
GCM2	9247	broad.mit.edu	37	6	10874603	10874603	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874603C>A	ENST00000379491.4	-	5	1293	c.1146G>T	c.(1144-1146)gtG>gtT	p.V382V	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	382			V -> M (does not affect expression level, transactivational capacity and DNA binding ability). {ECO:0000269|PubMed:21642377}.		cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGGTGATCACGGTTTGTA	0.557																																						ENST00000379491.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(1144-1146)gtG>gtT		glial cells missing homolog 2 (Drosophila)							169.0	163.0	165.0					6																	10874603		2203	4300	6503	SO:0001819	synonymous_variant	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874603C>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1146G>T	6.37:g.10874603C>A						SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.V382V	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			5	1293	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	382		V -> M (does not affect expression level, transactivational capacity and DNA binding ability).			D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	c.1146G>T	CCDS4517.1																																																																																				0.557	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			128	623	1	0	1.46217e-58	1	1.8345e-58	128	623				
LIG4	3981	broad.mit.edu	37	13	108862042	108862042	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108862042A>C	ENST00000356922.4	-	2	1847	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	525					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGGCTTCCAATACTTGGCCA	0.428								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1573-1575)taT>taG	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							95.0	101.0	99.0					13																	108862042		2203	4300	6503	SO:0001587	stop_gained	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862042A>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1575T>G	13.37:g.108862042A>C	ENSP00000349393:p.Tyr525*					LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*	p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1847	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		525					Q8IY66|Q8TEU5	Nonsense_Mutation	SNP	ENST00000356922.4	37	c.1575T>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727245	0.69074	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	5.28	-5.29	0.02747	.	0.202657	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	20.6139	0.99472	0.131:0.0:0.869:0.0	.	.	.	.	X	525	.	ENSP00000349393:Y525X	Y	-	3	2	LIG4	107660043	0.389000	0.25205	0.066000	0.19879	0.178000	0.23041	-0.339000	0.07832	-0.874000	0.04027	-0.421000	0.06004	TAT		0.428	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		101	512	0	0	0	1	0	101	512				
ECT2	1894	broad.mit.edu	37	3	172523587	172523587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172523587G>A	ENST00000392692.3	+	21	2349	c.2173G>A	c.(2173-2175)Gct>Act	p.A725T	ECT2_ENST00000540509.1_Missense_Mutation_p.A725T|ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000417960.1_Missense_Mutation_p.A693T|ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	725	PH.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCGACCCCCAGCTTCTCTTAA	0.403																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2077-2079)Gct>Act		epithelial cell transforming sequence 2 oncogene							63.0	65.0	65.0					3																	172523587		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172523587G>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2173G>A	3.37:g.172523587G>A	ENSP00000376457:p.Ala725Thr					ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000540509.1_Missense_Mutation_p.A725T|ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T|ECT2_ENST00000392692.3_Missense_Mutation_p.A725T	p.A693T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		21	2554	+	Ovarian(172;0.00197)|Breast(254;0.158)		694			PH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.2077G>A	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695041|3.695041	0.68386|0.68386	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54;1.54;1.54|.	6.06|6.06	4.28|4.28	0.50868|0.50868	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.145083|.	0.64402|.	D|.	0.000008|.	T|T	0.59649|0.59649	0.2209|0.2209	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	B;B;P;B;B|.	0.36412|.	0.381;0.027;0.552;0.397;0.214|.	B;B;B;B;B|.	0.43990|.	0.103;0.012;0.438;0.199;0.113|.	T|T	0.55270|0.55270	-0.8167|-0.8167	10|5	0.20519|.	T|.	0.43|.	-11.4381|-11.4381	13.062|13.062	0.59012|0.59012	0.0:0.1294:0.747:0.1236|0.0:0.1294:0.747:0.1236	.|.	725;170;725;694;693|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	T|N	694;725;694;693;694;725|64	ENSP00000232458:A694T;ENSP00000376457:A725T;ENSP00000401910:A694T;ENSP00000415876:A693T;ENSP00000412259:A694T;ENSP00000443160:A725T|.	ENSP00000232458:A694T|.	A|S	+|+	1|2	0|0	ECT2|ECT2	174006281|174006281	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	3.275000|3.275000	0.51639|0.51639	0.888000|0.888000	0.36160|0.36160	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.403	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		46	194	0	0	0	1	0	46	194				
TMEM173	340061	broad.mit.edu	37	5	138860412	138860412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860412C>T	ENST00000330794.4	-	5	816	c.483G>A	c.(481-483)tgG>tgA	p.W161*	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	161	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTAATATGACCATGCCAGCC	0.562																																						ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(481-483)tgG>tgA		transmembrane protein 173							74.0	67.0	69.0					5																	138860412		2203	4300	6503	SO:0001587	stop_gained	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138860412C>T		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.483G>A	5.37:g.138860412C>T	ENSP00000331288:p.Trp161*					TMEM173_ENST00000511850.1_5'UTR	p.W161*	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	816	-			161					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Nonsense_Mutation	SNP	ENST00000330794.4	37	c.483G>A	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777147	0.96929	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	.	.	.	4.56	4.56	0.56223	.	0.071294	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2374	17.106	0.86663	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000331288:W161X	W	-	3	0	TMEM173	138840596	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.888000	0.69758	2.363000	0.80096	0.561000	0.74099	TGG		0.562	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		34	148	0	0	0	1	0	34	148				
BVES	11149	broad.mit.edu	37	6	105549001	105549001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105549001G>A	ENST00000314641.5	-	8	1262	c.1046C>T	c.(1045-1047)gCa>gTa	p.A349V	BVES_ENST00000336775.5_Missense_Mutation_p.A349V|BVES_ENST00000446408.2_Missense_Mutation_p.A349V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	349					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATTTGGAGATGCCGGTTCAAA	0.453																																						ENST00000314641.5																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1045-1047)gCa>gTa		blood vessel epicardial substance							223.0	192.0	202.0					6																	105549001		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105549001G>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.1046C>T	6.37:g.105549001G>A	ENSP00000313172:p.Ala349Val					BVES_ENST00000336775.5_Missense_Mutation_p.A349V|BVES_ENST00000446408.2_Missense_Mutation_p.A349V	p.A349V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			8	1262	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	349					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.1046C>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726162	0.30593	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17691	2.26;2.26;2.26	5.3	-5.02	0.02982	.	1.955520	0.02132	N	0.056510	T	0.01287	0.0042	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37641	-0.9697	10	0.11794	T	0.64	-11.7194	8.1452	0.31108	0.2685:0.0:0.5878:0.1437	.	349	Q8NE79	POPD1_HUMAN	V	349	ENSP00000313172:A349V;ENSP00000337259:A349V;ENSP00000397310:A349V	ENSP00000313172:A349V	A	-	2	0	BVES	105655694	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.463000	0.02361	-0.393000	0.07739	-0.300000	0.09419	GCA		0.453	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		77	274	0	0	0	1	0	77	274				
ZNF521	25925	broad.mit.edu	37	18	22804820	22804820	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804820C>T	ENST00000361524.3	-	4	3210	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H|ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1021					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCACGCAGCGAAAGCCTGT	0.512			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3061-3063)cGc>cAc		zinc finger protein 521							76.0	65.0	69.0					18																	22804820		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804820C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3062G>A	18.37:g.22804820C>T	ENSP00000354794:p.Arg1021His					ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H	p.R1021H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3210	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1021					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3062G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463683	0.43736	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10192	2.9;2.9	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.27053	0.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.00449	-1.1732	10	0.56958	D	0.05	-45.0411	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1021	Q96K83	ZN521_HUMAN	H	1021;1055;1021	ENSP00000354794:R1021H;ENSP00000382352:R1021H	ENSP00000354794:R1021H	R	-	2	0	ZNF521	21058818	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGC		0.512	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		47	212	0	0	0	1	0	47	212				
ADAMTS7	11173	broad.mit.edu	37	15	79064008	79064008	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064008C>A	ENST00000388820.4	-	15	2505	c.2295G>T	c.(2293-2295)ggG>ggT	p.G765G	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	765	Spacer.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGTGGTCCCTGCCACCT	0.642																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2293-2295)ggG>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							72.0	56.0	61.0					15																	79064008		2196	4293	6489	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79064008C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2295G>T	15.37:g.79064008C>A						ADAMTS7_ENST00000566303.1_Intron	p.G765G	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			15	2505	-			765			Spacer.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.2295G>T	CCDS32303.1																																																																																				0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		22	196	1	0	1.10923e-09	1	1.16946e-09	22	196				
RWDD2A	112611	broad.mit.edu	37	6	83900687	83900687	+	5'Flank	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83900687C>A	ENST00000369724.4	+	0	0				RWDD2A_ENST00000539997.1_5'Flank|PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.K15N|PGM3_ENST00000506587.1_Missense_Mutation_p.K43N|PGM3_ENST00000513973.1_Missense_Mutation_p.K15N	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A											cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GTCCATTGGGCTTGGCGTGTA	0.393																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(43-45)aaG>aaT		phosphoglucomutase 3							161.0	141.0	148.0					6																	83900687		2203	4300	6503	SO:0001631	upstream_gene_variant	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83900687C>A	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109		6.37:g.83900687C>A	Exception_encountered					PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.K15N|PGM3_ENST00000506587.1_Missense_Mutation_p.K43N	p.K15N	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	2	161	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	15					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.45G>T	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747986	0.49257	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000506587;ENST00000507554;ENST00000508748;ENST00000503094	T;T;T	0.48201	0.85;0.84;0.82	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.90483	3.12	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.62649	0.905;0.837	T	0.70605	-0.4826	10	0.46703	T	0.11	-16.0693	15.1568	0.72749	0.0:0.9308:0.0:0.0692	.	43;15	E9PF86;O95394	.;AGM1_HUMAN	N	15;15;43;15;43;43	ENSP00000424874:K15N;ENSP00000421565:K15N;ENSP00000425809:K43N	ENSP00000422362:K43N	K	-	3	2	PGM3	83957406	0.991000	0.36638	1.000000	0.80357	0.186000	0.23388	0.307000	0.19296	2.706000	0.92434	0.655000	0.94253	AAG		0.393	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		72	351	1	0	1.2582e-26	1	1.451e-26	72	351				
HCN1	348980	broad.mit.edu	37	5	45262687	45262687	+	Missense_Mutation	SNP	G	G	A	rs142280884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262687G>A	ENST00000303230.4	-	8	2066	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	670					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGCTGGTCGCTGTGTACAC	0.587																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2008-2010)gCg>gTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135.0	133.0	134.0		2009	5.4	0.2	5	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HCN1	NM_021072.3	64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	670/891	45262687	3,13003	2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262687G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2009C>T	5.37:g.45262687G>A	ENSP00000307342:p.Ala670Val						p.A670V	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2066	-			670						Missense_Mutation	SNP	ENST00000303230.4	37	c.2009C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534289	0.27475	2.27E-4	2.33E-4	ENSG00000164588	ENST00000303230	D	0.97620	-4.46	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000010	D	0.93432	0.7905	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	D	0.85769	0.1354	10	0.46703	T	0.11	.	10.5844	0.45273	0.0731:0.1347:0.7923:0.0	.	670	O60741	HCN1_HUMAN	V	670	ENSP00000307342:A670V	ENSP00000307342:A670V	A	-	2	0	HCN1	45298444	0.019000	0.18553	0.244000	0.24202	0.967000	0.64934	1.899000	0.39818	2.528000	0.85240	0.563000	0.77884	GCG		0.587	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		65	279	0	0	0	1	0	65	279				
MACF1	23499	broad.mit.edu	37	1	39851459	39851459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851459G>A	ENST00000372915.3	+	56	14304	c.14217G>A	c.(14215-14217)gaG>gaA	p.E4739E	MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000564288.1_Silent_p.E4734E|MACF1_ENST00000545844.1_Silent_p.E2672E|MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000361689.2_Silent_p.E2672E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4739					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGACTTGGAGCAGTTAGACC	0.502																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14200-14202)gaG>gaA		microtubule-actin crosslinking factor 1							113.0	103.0	106.0					1																	39851459		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39851459G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14217G>A	1.37:g.39851459G>A						MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000545844.1_Silent_p.E2672E|MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000372915.3_Silent_p.E4739E|MACF1_ENST00000361689.2_Silent_p.E2672E	p.E4734E			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		57	14979	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4739					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.14202G>A		.	.	.	.	.	.	.	.	.	.	G	6.865	0.528900	0.13127	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.06	-0.123	0.13527	.	.	.	.	.	T	0.57373	0.2049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50372	-0.8836	4	.	.	.	.	10.0573	0.42252	0.4608:0.0:0.5392:0.0	.	.	.	.	T	1785	.	.	A	+	1	0	MACF1	39624046	1.000000	0.71417	0.633000	0.29310	0.841000	0.47740	1.693000	0.37742	-0.262000	0.09392	-0.136000	0.14681	GCA		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	299	0	0	0	1	0	15	299				
CSF2RB	1439	broad.mit.edu	37	22	37334204	37334204	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37334204T>C	ENST00000403662.3	+	14	2576	c.2354T>C	c.(2353-2355)gTc>gCc	p.V785A	CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V791A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	785					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AACAATCCTGTCCCCCCTGAG	0.642																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(2371-2373)gTc>gCc		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						52.0	51.0	51.0					22																	37334204		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37334204T>C	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2354T>C	22.37:g.37334204T>C	ENSP00000384053:p.Val785Ala					CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.V785A	p.V791A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	2589	+			785					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.2372T>C	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	0.386	-0.925985	0.02377	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.90788	-2.22;-2.73;-2.73;-2.73	5.38	-1.52	0.08637	.	0.614872	0.14560	N	0.312136	T	0.63628	0.2527	N	0.01048	-1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.004	T	0.61549	-0.7040	10	0.07030	T	0.85	-8.6352	2.1121	0.03705	0.1292:0.458:0.1419:0.2708	.	791;785	P32927-2;P32927	.;IL3RB_HUMAN	A	785;785;791;791;732	ENSP00000384053:V785A;ENSP00000262825:V791A;ENSP00000385271:V791A;ENSP00000440003:V732A	ENSP00000262825:V791A	V	+	2	0	CSF2RB	35664150	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.161000	0.10026	-0.019000	0.14055	-0.375000	0.07067	GTC		0.642	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		77	340	0	0	0	1	0	77	340				
SCN10A	6336	broad.mit.edu	37	3	38763851	38763851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38763851C>T	ENST00000449082.2	-	19	3404	c.3405G>A	c.(3403-3405)tgG>tgA	p.W1135*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1135					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGCCCACATCCCATGGACTCT	0.562																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3403-3405)tgG>tgA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167.0	142.0	151.0					3																	38763851		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38763851C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3405G>A	3.37:g.38763851C>T	ENSP00000390600:p.Trp1135*						p.W1135*	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	19	3404	-			1135					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.3405G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	38	6.873866	0.97901	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.27	3.29	0.37713	.	0.491076	0.21418	N	0.074877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	5.4099	0.16342	0.0:0.635:0.2138:0.1512	.	.	.	.	X	1135	.	ENSP00000390600:W1135X	W	-	3	0	SCN10A	38738855	0.124000	0.22315	0.278000	0.24718	0.150000	0.21749	0.365000	0.20348	2.221000	0.72209	0.561000	0.74099	TGG		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		106	488	0	0	0	1	0	106	488				
CMTR1	23070	broad.mit.edu	37	6	37441300	37441300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37441300C>A	ENST00000373451.4	+	17	1908	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	582					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										CTCTAAAACCCTGGAGAAGAT	0.562																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1744-1746)Ctg>Atg									147.0	127.0	134.0					6																	37441300		2203	4300	6503	SO:0001583	missense	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37441300C>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1744C>A	6.37:g.37441300C>A	ENSP00000362550:p.Leu582Met						p.L582M	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			17	1908	+			582					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.1744C>A	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635839	0.67130	.	.	ENSG00000137200	ENST00000373451	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.78916	2.43	0.54753	D	0.999983	D	0.63880	0.993	P	0.58331	0.837	T	0.75502	-0.3295	9	0.66056	D	0.02	-15.3338	14.328	0.66532	0.0:0.9289:0.0:0.0711	.	582	Q8N1G2	MTR1_HUMAN	M	582	.	ENSP00000362550:L582M	L	+	1	2	FTSJD2	37549278	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	1.627000	0.50400	0.655000	0.94253	CTG		0.562	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		89	433	1	0	1.26005e-42	1	1.53511e-42	89	433				
RYR1	6261	broad.mit.edu	37	19	38931486	38931486	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38931486G>T	ENST00000359596.3	+	2	147	c.147G>T	c.(145-147)gaG>gaT	p.E49D	RYR1_ENST00000355481.4_Missense_Mutation_p.E49D|RYR1_ENST00000360985.3_Missense_Mutation_p.E49D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	49					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTTCCTGGAGCCCACTAGCA	0.642																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(145-147)gaG>gaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						17.0	18.0	18.0					19																	38931486		2196	4285	6481	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38931486G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.147G>T	19.37:g.38931486G>T	ENSP00000352608:p.Glu49Asp					RYR1_ENST00000360985.3_Missense_Mutation_p.E49D|RYR1_ENST00000359596.3_Missense_Mutation_p.E49D	p.E49D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	278	+	all_cancers(60;7.91e-06)		49					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.147G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.966575	0.34659	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98602	-5.02;-5.02;-5.02	4.81	3.77	0.43336	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000002	D	0.98541	0.9513	M	0.83953	2.67	0.34988	D	0.754759	D;D	0.76494	0.995;0.999	D;D	0.75020	0.975;0.985	D	0.99942	1.1427	10	0.87932	D	0	.	6.8359	0.23935	0.2168:0.0:0.7832:0.0	.	49;49	P21817-2;P21817	.;RYR1_HUMAN	D	49	ENSP00000352608:E49D;ENSP00000347667:E49D;ENSP00000354254:E49D	ENSP00000347667:E49D	E	+	3	2	RYR1	43623326	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.815000	0.27253	0.991000	0.38814	0.556000	0.70494	GAG		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			20	103	1	0	1.55795e-14	1	1.69389e-14	20	103				
PDE3A	5139	broad.mit.edu	37	12	20522684	20522684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20522684C>T	ENST00000359062.3	+	1	506	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	156					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGCCGGGGTGCGCCTGCCTCT	0.697																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(466-468)Cgc>Tgc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						14.0	17.0	16.0					12																	20522684		2077	4119	6196	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20522684C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.466C>T	12.37:g.20522684C>T	ENSP00000351957:p.Arg156Cys					RP11-284H19.1_ENST00000535755.1_RNA	p.R156C	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			1	506	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	156					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.466C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601857	0.66445	.	.	ENSG00000172572	ENST00000359062	T	0.64085	-0.08	5.21	4.29	0.51040	.	0.996761	0.08141	N	0.991574	T	0.48259	0.1490	N	0.19112	0.55	0.48975	D	0.999733	D	0.55385	0.971	B	0.36666	0.23	T	0.45673	-0.9245	10	0.59425	D	0.04	.	14.7641	0.69626	0.1554:0.8446:0.0:0.0	.	156	Q14432	PDE3A_HUMAN	C	156	ENSP00000351957:R156C	ENSP00000351957:R156C	R	+	1	0	PDE3A	20413951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.950000	0.56676	1.106000	0.41623	0.555000	0.69702	CGC		0.697	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			34	154	0	0	0	1	0	34	154				
CDH7	1005	broad.mit.edu	37	18	63547943	63547943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:63547943C>T	ENST00000397968.2	+	12	2597	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	724					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATCCTGGTGCTCCTCCTTAT	0.418																																						ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(2170-2172)gCt>gTt		cadherin 7, type 2							117.0	126.0	123.0					18																	63547943		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547943C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2171C>T	18.37:g.63547943C>T	ENSP00000381058:p.Ala724Val					CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	p.A724V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2597	+		Esophageal squamous(42;0.129)	724					Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.2171C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886486	0.33348	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.78003	-1.14;-1.14	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	N	0.25245	0.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79181	-0.1909	10	0.27785	T	0.31	.	19.1123	0.93321	0.0:1.0:0.0:0.0	.	724	Q9ULB5	CADH7_HUMAN	V	724	ENSP00000319166:A724V;ENSP00000381058:A724V	ENSP00000319166:A724V	A	+	2	0	CDH7	61698923	1.000000	0.71417	0.103000	0.21229	0.029000	0.11900	7.818000	0.86416	2.515000	0.84797	0.655000	0.94253	GCT		0.418	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		135	582	0	0	0	1	0	135	582				
KIAA0922	23240	broad.mit.edu	37	4	154523409	154523409	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154523409A>G	ENST00000409663.3	+	22	2421	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	KIAA0922_ENST00000409959.3_Missense_Mutation_p.N791S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N707S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	790						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AATGGGTATAACTGCCAAGGT	0.383																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2368-2370)aAc>aGc		KIAA0922							153.0	152.0	153.0					4																	154523409		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154523409A>G	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2369A>G	4.37:g.154523409A>G	ENSP00000386574:p.Asn790Ser					KIAA0922_ENST00000409959.3_Missense_Mutation_p.N791S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N707S	p.N790S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			22	2421	+	all_hematologic(180;0.093)	Renal(120;0.118)	790					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.2369A>G	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	6.899	0.535347	0.13188	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16597	2.6;2.33;2.6;2.33	5.81	4.62	0.57501	.	0.232813	0.50627	N	0.000115	T	0.07007	0.0178	N	0.10837	0.055	0.29994	N	0.81661	P;B;B	0.34412	0.453;0.021;0.004	B;B;B	0.33196	0.159;0.032;0.006	T	0.21965	-1.0230	10	0.07325	T	0.83	-20.898	6.483	0.22073	0.7169:0.0:0.2831:0.0	.	707;791;790	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	S	790;707;791;568	ENSP00000386574:N790S;ENSP00000409663:N707S;ENSP00000386787:N791S;ENSP00000240487:N568S	ENSP00000240487:N568S	N	+	2	0	KIAA0922	154742859	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	2.583000	0.46094	1.014000	0.39417	-0.290000	0.09829	AAC		0.383	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		16	817	0	0	0	1	0	16	817				
PARD3	56288	broad.mit.edu	37	10	34400149	34400149	+	Missense_Mutation	SNP	G	G	A	rs144433754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34400149G>A	ENST00000374789.3	-	25	4344	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCAGCCTCGCAACCTGAGA	0.542																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(4018-4020)gCg>gTg		par-3 family cell polarity regulator							46.0	51.0	49.0					10																	34400149		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400149G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.4019C>T	10.37:g.34400149G>A	ENSP00000363921:p.Ala1340Val					PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V	p.A1340V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			25	4344	-		Breast(68;0.0707)	1340					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.4019C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696904	0.48202	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.17213	2.42;2.32;2.43;2.44;2.35;2.32;2.29;2.38	6.17	6.17	0.99709	.	0.151617	0.64402	D	0.000014	T	0.31796	0.0808	N	0.24115	0.695	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	1.0;0.535;1.0;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D;D	0.85130	0.997;0.049;0.997;0.997;0.997;0.997;0.997;0.994	T	0.01266	-1.1401	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1228;1250;1257;1294;1324;1303;1337;1340	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	V	1324;1250;1340;1337;1303;1228;1294;1280	ENSP00000443147:A1324V;ENSP00000440857:A1250V;ENSP00000363921:A1340V;ENSP00000363920:A1337V;ENSP00000340591:A1303V;ENSP00000363926:A1228V;ENSP00000311986:A1294V;ENSP00000363922:A1280V	ENSP00000340591:A1303V	A	-	2	0	PARD3	34440155	1.000000	0.71417	0.370000	0.25965	0.918000	0.54935	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCG		0.542	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		72	297	0	0	0	1	0	72	297				
OR6Y1	391112	broad.mit.edu	37	1	158517703	158517703	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517703A>G	ENST00000302617.3	-	1	192	c.193T>C	c.(193-195)Tac>Cac	p.Y65H		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAAGAAGTACATGGGCTTA	0.463																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(193-195)Tac>Cac		olfactory receptor, family 6, subfamily Y, member 1							79.0	74.0	76.0					1																	158517703		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517703A>G	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.193T>C	1.37:g.158517703A>G	ENSP00000304807:p.Tyr65His						p.Y65H	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	192	-	all_hematologic(112;0.0378)		65					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.193T>C	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165016	0.78339	.	.	ENSG00000197532	ENST00000302617	T	0.15487	2.42	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001739	T	0.47544	0.1451	H	0.96633	3.855	0.45777	D	0.998663	D	0.89917	1.0	D	0.68943	0.961	T	0.66268	-0.5966	10	0.87932	D	0	.	13.9452	0.64080	1.0:0.0:0.0:0.0	.	65	Q8NGX8	OR6Y1_HUMAN	H	65	ENSP00000304807:Y65H	ENSP00000304807:Y65H	Y	-	1	0	OR6Y1	156784327	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.948000	0.93006	2.176000	0.68965	0.460000	0.39030	TAC		0.463	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		61	211	0	0	0	1	0	61	211				
ST5	6764	broad.mit.edu	37	11	8734225	8734225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8734225C>T	ENST00000534127.1	-	12	2430	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	ST5_ENST00000526099.1_Missense_Mutation_p.R195H|ST5_ENST00000357665.1_Missense_Mutation_p.R682H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000530438.1_Missense_Mutation_p.R262H|ST5_ENST00000526757.1_Missense_Mutation_p.R262H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	682					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCAGCGTGCGATAGCTGGG	0.602																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2044-2046)cGc>cAc		suppression of tumorigenicity 5							45.0	39.0	41.0					11																	8734225		2200	4296	6496	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8734225C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2045G>A	11.37:g.8734225C>T	ENSP00000433528:p.Arg682His					ST5_ENST00000526757.1_Missense_Mutation_p.R262H|ST5_ENST00000530438.1_Missense_Mutation_p.R262H|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000357665.1_Missense_Mutation_p.R682H|ST5_ENST00000526099.1_Missense_Mutation_p.R195H	p.R682H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	12	2430	-			682					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2045G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597627	0.66332	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527	T;T;T;T;T;T;T;T;T;T	0.34072	2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;1.38;2.91	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.36672	1.1	0.53688	D	0.999971	B;B;B	0.23442	0.012;0.085;0.069	B;B;B	0.17979	0.005;0.02;0.016	T	0.09465	-1.0673	10	0.54805	T	0.06	-12.5329	10.5888	0.45298	0.0:0.8518:0.0:0.1482	.	195;262;682	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	H	262;682;682;154;682;195;262;154;292;139;154	ENSP00000435097:R262H;ENSP00000433528:R682H;ENSP00000319678:R682H;ENSP00000432887:R154H;ENSP00000350294:R682H;ENSP00000436808:R195H;ENSP00000436802:R262H;ENSP00000433588:R154H;ENSP00000437096:R139H;ENSP00000431580:R154H	ENSP00000319678:R682H	R	-	2	0	ST5	8690801	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.689000	0.61723	2.467000	0.83353	0.655000	0.94253	CGC		0.602	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		11	69	0	0	0	1	0	11	69				
MCM6	4175	broad.mit.edu	37	2	136627930	136627930	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136627930C>T	ENST00000264156.2	-	3	316	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	86					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TAAGGGTAAACTCTGAAAAAC	0.433																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.e3-1		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						113.0	122.0	119.0					2																	136627930		2203	4300	6503	SO:0001630	splice_region_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136627930C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.255-1G>A	2.37:g.136627930C>T							p.V86_splice	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	3	316	-			86					B2R6H2|Q13504|Q99859	Splice_Site	SNP	ENST00000264156.2	37	c.254_splice	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089667	0.55968	.	.	ENSG00000076003	ENST00000264156	T	0.11169	2.8	5.5	5.5	0.81552	Nucleic acid-binding, OB-fold-like (1);	0.055393	0.64402	D	0.000001	T	0.14013	0.0339	L	0.49513	1.565	0.80722	D	1	B	0.17852	0.024	B	0.20767	0.031	T	0.09079	-1.0691	10	0.21014	T	0.42	-21.2407	19.3903	0.94578	0.0:1.0:0.0:0.0	.	86	Q14566	MCM6_HUMAN	I	86	ENSP00000264156:V86I	ENSP00000264156:V86I	V	-	1	0	MCM6	136344400	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.859000	0.62954	2.578000	0.87016	0.650000	0.86243	GTT		0.433	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	Missense_Mutation	218	546	0	0	0	1	0	218	546				
KIAA1715	80856	broad.mit.edu	37	2	176844565	176844565	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176844565A>C	ENST00000272748.4	-	5	536	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V|KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	97					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTGGAAAAGAAGAAAATAATT	0.274																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(289-291)Ttc>Gtc		KIAA1715							22.0	23.0	23.0					2																	176844565		2174	4271	6445	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176844565A>C	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.289T>G	2.37:g.176844565A>C	ENSP00000272748:p.Phe97Val					KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V	p.F97V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		5	536	-			97					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.289T>G	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398115	0.42512	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	5.31	4.12	0.48240	.	0.250174	0.43416	D	0.000579	T	0.48642	0.1511	L	0.55481	1.735	0.44652	D	0.997638	P;B;D;B	0.54601	0.898;0.284;0.967;0.212	B;B;B;B	0.43950	0.429;0.059;0.437;0.048	T	0.51482	-0.8700	9	0.87932	D	0	-2.4999	9.3517	0.38142	0.8403:0.0:0.0:0.1597	.	99;97;94;97	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	97;99;97;22;92	.	ENSP00000272748:F97V	F	-	1	0	KIAA1715	176552811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.229000	0.42990	0.913000	0.36797	0.460000	0.39030	TTC		0.274	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		14	80	0	0	0	1	0	14	80				
TRAV12-3	28672	broad.mit.edu	37	14	22434167	22434167	+	RNA	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22434167T>A	ENST00000390442.3	+	0	276									T cell receptor alpha variable 12-3																		GTACACATACTCCAGTGGTAA	0.433																																						ENST00000390442.3																			0																				157.0	156.0	156.0					14																	22434167		1955	4135	6090			0							g.chr14:22434167T>A	X06193		14q11.2	2012-02-07			ENSG00000211794	ENSG00000211794		"""T cell receptors / TRA locus"""	12107	other	T cell receptor gene						3501368, 8951372	Standard	NG_001332		Approved	TRAV123, TCRAV2S2, TCRAV12S3			OTTHUMG00000170640		14.37:g.22434167T>A														0	276	+									RNA	SNP	ENST00000390442.3	37																																																																																						0.433	TRAV12-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409888.1	NG_001332		148	681	0	0	0	1	0	148	681				
RECQL	5965	broad.mit.edu	37	12	21644468	21644468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21644468C>T	ENST00000444129.2	-	3	667	c.199G>A	c.(199-201)Gct>Act	p.A67T	RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	67					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTATTCCAAGCGGCAGGTGAA	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(199-201)Gct>Act	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)																																				SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21644468C>T	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.199G>A	12.37:g.21644468C>T	ENSP00000416739:p.Ala67Thr					RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			3	667	-			67					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.199G>A	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.475014	0.12521	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964;ENST00000539672	T;T;T;T;T;T	0.76448	-1.02;-1.02;0.75;0.75;-0.05;0.94	4.45	-1.07	0.09968	.	0.791130	0.11811	N	0.527132	T	0.65739	0.2720	L	0.57536	1.79	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47522	-0.9111	10	0.14252	T	0.57	-12.6805	4.7242	0.12933	0.2271:0.4814:0.0:0.2915	.	67	P46063	RECQ1_HUMAN	T	67	ENSP00000416739:A67T;ENSP00000395449:A67T;ENSP00000379400:A67T;ENSP00000318727:A67T;ENSP00000445555:A67T;ENSP00000439069:A67T	ENSP00000318727:A67T	A	-	1	0	RECQL	21535735	0.001000	0.12720	0.341000	0.25589	0.987000	0.75469	0.075000	0.14686	-0.086000	0.12550	0.655000	0.94253	GCT		0.323	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		43	168	0	0	0	1	0	43	168				
ZBTB39	9880	broad.mit.edu	37	12	57396934	57396934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57396934G>T	ENST00000300101.2	-	2	1853	c.1768C>A	c.(1768-1770)Ctg>Atg	p.L590M		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	590					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCTTCACCCAGAAACTCCTCT	0.562																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1768-1770)Ctg>Atg		zinc finger and BTB domain containing 39							52.0	55.0	54.0					12																	57396934		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396934G>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1768C>A	12.37:g.57396934G>T	ENSP00000300101:p.Leu590Met						p.L590M	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1853	-			590					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1768C>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063297	0.36373	.	.	ENSG00000166860	ENST00000300101	T	0.10860	2.83	5.18	3.37	0.38596	.	0.332649	0.25906	N	0.027539	T	0.10680	0.0261	N	0.19112	0.55	0.25436	N	0.988136	D	0.62365	0.991	P	0.51999	0.687	T	0.07829	-1.0752	10	0.72032	D	0.01	-7.7598	7.0407	0.25019	0.2693:0.0:0.7307:0.0	.	590	O15060	ZBT39_HUMAN	M	590	ENSP00000300101:L590M	ENSP00000300101:L590M	L	-	1	2	ZBTB39	55683201	0.051000	0.20477	1.000000	0.80357	0.984000	0.73092	-0.020000	0.12525	0.777000	0.33496	0.655000	0.94253	CTG		0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		66	293	1	0	9.61844e-40	1	1.16381e-39	66	293				
ZBED1	9189	broad.mit.edu	37	X	2406797	2406797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406797G>A	ENST00000381223.4	-	2	2167	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V|ZBED1_ENST00000515319.1_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	655					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCGCCTCTGCCCCACTCCG	0.657																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1963-1965)gCa>gTa		zinc finger, BED-type containing 1							109.0	112.0	111.0					X																	2406797		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406797G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1964C>T	X.37:g.2406797G>A	ENSP00000370621:p.Ala655Val					RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V|DHRSX_ENST00000334651.5_Intron	p.A655V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	2167	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	655					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1964C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	3.572	-0.087486	0.07097	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	3.06	2.16	0.27623	Ribonuclease H-like (1);	0.670871	0.11924	U	0.516364	T	0.28333	0.0700	.	.	.	0.09310	N	0.999999	B	0.27498	0.18	B	0.18871	0.023	T	0.11991	-1.0565	8	0.28530	T	0.3	.	11.3878	0.49796	0.0:0.1813:0.8187:0.0	.	655	O96006	ZBED1_HUMAN	V	655	.	ENSP00000370616:A655V	A	-	2	0	ZBED1	2416797	0.320000	0.24616	0.003000	0.11579	0.015000	0.08874	2.377000	0.44300	0.193000	0.20303	0.519000	0.50382	GCA		0.657	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		185	528	0	0	0	1	0	185	528				
CFB	629	broad.mit.edu	37	6	31914967	31914967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31914967G>A	ENST00000425368.2	+	3	995	c.482G>A	c.(481-483)gGa>gAa	p.G161E	CFB_ENST00000456570.1_Missense_Mutation_p.G663E|CFB_ENST00000556679.1_Missense_Mutation_p.G663E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	161					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTGACAACGGAGGTGAGAAG	0.597																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1987-1989)gGa>gAa		complement factor B							59.0	63.0	62.0					6																	31914967		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31914967G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.482G>A	6.37:g.31914967G>A	ENSP00000416561:p.Gly161Glu					CFB_ENST00000425368.2_Missense_Mutation_p.G161E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E|CFB_ENST00000556679.1_Missense_Mutation_p.G663E	p.G663E			P00751	CFAB_HUMAN			15	2043	+			161			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.1988G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511718	0.64522	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;T;D;T	0.81579	-1.51;-1.4;-1.51;-1.47	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000239	D	0.83505	0.5269	L	0.43646	1.37	0.43678	D	0.996116	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.85611	0.1258	10	0.72032	D	0.01	-13.6748	16.3637	0.83296	0.0:0.0:1.0:0.0	.	663;161;161	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	E	663;161;663;512	ENSP00000451848:G663E;ENSP00000416561:G161E;ENSP00000410815:G663E;ENSP00000418996:G512E	ENSP00000416561:G161E	G	+	2	0	CFB;XXbac-BPG116M5.17	32022946	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.102000	0.64572	2.404000	0.81709	0.655000	0.94253	GGA		0.597	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		69	307	0	0	0	1	0	69	307				
NIPBL	25836	broad.mit.edu	37	5	37000985	37000985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000985C>A	ENST00000282516.8	+	13	4068	c.3569C>A	c.(3568-3570)cCt>cAt	p.P1190H	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1190					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAACTAACACCTGAAGGTAAC	0.299																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(3568-3570)cCt>cAt		Nipped-B homolog (Drosophila)							79.0	79.0	79.0					5																	37000985		2202	4298	6500	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37000985C>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3569C>A	5.37:g.37000985C>A	ENSP00000282516:p.Pro1190His					NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		13	4068	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1190					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3569C>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126788	0.20959	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93307	-3.19;-3.2	5.91	5.91	0.95273	.	0.125114	0.56097	D	0.000033	D	0.90086	0.6903	L	0.36672	1.1	0.42382	D	0.992496	B;B	0.30741	0.293;0.261	B;B	0.19946	0.022;0.027	D	0.87524	0.2448	10	0.52906	T	0.07	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	1190;1190	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1190	ENSP00000282516:P1190H;ENSP00000406266:P1190H	ENSP00000282516:P1190H	P	+	2	0	NIPBL	37036742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.719000	0.47244	2.791000	0.96007	0.650000	0.86243	CCT		0.299	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		26	126	1	0	2.44723e-14	1	2.65813e-14	26	126				
RETSAT	54884	broad.mit.edu	37	2	85570385	85570385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85570385C>T	ENST00000295802.4	-	11	1925	c.1813G>A	c.(1813-1815)Gca>Aca	p.A605T	RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T|RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	605					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCTTCTGTGCCCGGATCCTA	0.512																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1813-1815)Gca>Aca		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						106.0	109.0	108.0					2																	85570385		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85570385C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1813G>A	2.37:g.85570385C>T	ENSP00000295802:p.Ala605Thr					RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T|RETSAT_ENST00000263854.6_3'UTR	p.A605T	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			11	1925	-			605					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1813G>A	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	0.733	-0.779182	0.02929	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.22945	1.94;1.93	4.79	3.0	0.34707	.	0.908581	0.09485	N	0.795783	T	0.26412	0.0645	M	0.73598	2.24	0.09310	N	0.999998	B;B;B	0.19445	0.036;0.036;0.021	B;B;B	0.14023	0.01;0.01;0.008	T	0.39035	-0.9633	10	0.15499	T	0.54	-1.6443	6.3913	0.21589	0.0:0.7056:0.0:0.2944	.	544;544;605	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	T	605;544	ENSP00000295802:A605T;ENSP00000405040:A544T	ENSP00000295802:A605T	A	-	1	0	RETSAT	85423896	0.068000	0.21057	0.140000	0.22221	0.035000	0.12851	0.503000	0.22610	0.634000	0.30469	0.561000	0.74099	GCA		0.512	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		57	570	0	0	0	1	0	57	570				
KCNH4	23415	broad.mit.edu	37	17	40318319	40318319	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318319G>T	ENST00000264661.3	-	10	2168	c.1836C>A	c.(1834-1836)atC>atA	p.I612I	KCNH4_ENST00000607371.1_Silent_p.I612I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	612					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAGGATGGCCAGCA	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1834-1836)atC>atA		potassium voltage-gated channel, subfamily H (eag-related), member 4							61.0	55.0	57.0					17																	40318319		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318319G>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1836C>A	17.37:g.40318319G>T						KCNH4_ENST00000607371.1_Silent_p.I612I	p.I612I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2168	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	612						Silent	SNP	ENST00000264661.3	37	c.1836C>A	CCDS11420.1																																																																																				0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		9	71	1	0	0.0477658	1	0.0478703	9	71				
RFPL3	10738	broad.mit.edu	37	22	32754256	32754256	+	Silent	SNP	G	G	A	rs61729170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(196-198)tcG>tcA		ret finger protein-like 3							121.0	114.0	117.0					22																	32754256		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754256G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.198G>A	22.37:g.32754256G>A						RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3_ENST00000397468.1_Silent_p.S37S	p.S66S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	403	+			66					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.198G>A	CCDS43011.1																																																																																				0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		100	406	0	0	0	1	0	100	406				
EMC3	55831	broad.mit.edu	37	3	10011449	10011449	+	Missense_Mutation	SNP	G	G	A	rs144158403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10011449G>A	ENST00000245046.2	-	7	1069	c.611C>T	c.(610-612)aCg>aTg	p.T204M	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	204						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGCTGCTCCCGTCATCTGCTC	0.522																																						ENST00000245046.2																			0											c.(610-612)aCg>aTg		ER membrane protein complex subunit 3		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	114.0	101.0	106.0		611	5.4	1.0	3	dbSNP_134	106	0,8600		0,0,4300	no	missense	TMEM111	NM_018447.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	204/262	10011449	1,13005	2203	4300	6503	SO:0001583	missense	55831							g.chr3:10011449G>A	AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.611C>T	3.37:g.10011449G>A	ENSP00000245046:p.Thr204Met					EMC3_ENST00000497557.1_5'UTR	p.T204M	NM_018447.2	NP_060917.1					7	1069	-								B2R4Z9|Q53GH8|Q6ZMC2	Missense_Mutation	SNP	ENST00000245046.2	37	c.611C>T	CCDS2594.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564403	0.45694	2.27E-4	0.0	ENSG00000125037	ENST00000245046	.	.	.	5.41	5.41	0.78517	.	0.042541	0.85682	D	0.000000	T	0.45478	0.1344	L	0.28274	0.84	0.80722	D	1	B;B	0.23650	0.02;0.089	B;B	0.18561	0.011;0.022	T	0.30995	-0.9959	9	0.25751	T	0.34	.	16.6904	0.85320	0.0:0.0:1.0:0.0	.	204;204	Q9P0I2-2;Q9P0I2	.;TM111_HUMAN	M	204	.	ENSP00000245046:T204M	T	-	2	0	TMEM111	9986449	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	3.268000	0.51585	2.530000	0.85305	0.655000	0.94253	ACG		0.522	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		65	269	0	0	0	1	0	65	269				
HSPA12A	259217	broad.mit.edu	37	10	118458251	118458251	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118458251C>A	ENST00000369209.3	-	5	546		c.e5-1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A							extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGTGAGGTCCTGGTAGGAGG	0.507																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e5-1		heat shock 70kDa protein 12A							115.0	109.0	111.0					10																	118458251		1932	4141	6073	SO:0001630	splice_region_variant	259217						ATP binding	g.chr10:118458251C>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.442-1G>T	10.37:g.118458251C>A								NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	5	546	-									Splice_Site	SNP	ENST00000369209.3	37		CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844608	0.71488	.	.	ENSG00000165868	ENST00000369209	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6322	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA12A	118448241	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.803000	0.85983	2.652000	0.90054	0.655000	0.94253	.		0.507	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	Intron	103	421	1	0	1.25439e-55	1	1.56857e-55	103	421				
ADCY10	55811	broad.mit.edu	37	1	167793916	167793916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793916C>T	ENST00000367851.4	-	27	4112	c.3928G>A	c.(3928-3930)Gga>Aga	p.G1310R	ADCY10_ENST00000367848.1_Missense_Mutation_p.G1218R|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1157R	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1310					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCAGGTGTCCCATTATGAGC	0.498																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3652-3654)Gga>Aga		adenylate cyclase 10 (soluble)							202.0	179.0	187.0					1																	167793916		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167793916C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3928G>A	1.37:g.167793916C>T	ENSP00000356825:p.Gly1310Arg					ADCY10_ENST00000545172.1_Missense_Mutation_p.G1157R|ADCY10_ENST00000367851.4_Missense_Mutation_p.G1310R|ADCY10_ENST00000485964.1_5'UTR	p.G1218R			Q96PN6	ADCYA_HUMAN			27	4149	-			1310					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3652G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035291	0.75617	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.80824	-1.42;-1.42;-1.42	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000037	D	0.87180	0.6113	M	0.72894	2.215	0.34910	D	0.747412	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88288	0.2941	9	0.87932	D	0	-16.6889	15.4404	0.75178	0.0:1.0:0.0:0.0	.	1218;1310	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	R	1157;211;1310;1218	ENSP00000441992:G1157R;ENSP00000356825:G1310R;ENSP00000356822:G1218R	ENSP00000271426:G211R	G	-	1	0	ADCY10	166060540	1.000000	0.71417	0.983000	0.44433	0.556000	0.35491	3.814000	0.55643	2.712000	0.92718	0.650000	0.86243	GGA		0.498	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		184	767	0	0	0	1	0	184	767				
DEFA6	1671	broad.mit.edu	37	8	6783472	6783472	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783472A>G	ENST00000297436.2	-	1	126	c.86T>C	c.(85-87)cTg>cCg	p.L29P	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	29					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTTTGCCTGCAGTGGATCATC	0.572																																						ENST00000297436.2																			0				lung(4)	4						c.(85-87)cTg>cCg		defensin, alpha 6, Paneth cell-specific							66.0	53.0	57.0					8																	6783472		2203	4300	6503	SO:0001583	missense	1671				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6783472A>G	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"""Defensins, alpha"""	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.86T>C	8.37:g.6783472A>G	ENSP00000297436:p.Leu29Pro						p.L29P	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	126	-			29					Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	37	c.86T>C	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	9.823	1.186277	0.21870	.	.	ENSG00000164822	ENST00000297436	T	0.35973	1.28	0.559	0.559	0.17272	Defensin propeptide (1);	.	.	.	.	T	0.50718	0.1632	M	0.62016	1.91	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.34104	-0.9842	8	0.33940	T	0.23	.	.	.	.	.	29	Q01524	DEF6_HUMAN	P	29	ENSP00000297436:L29P	ENSP00000297436:L29P	L	-	2	0	DEFA6	6770882	0.008000	0.16893	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	0.469000	0.27268	0.459000	0.35465	CTG		0.572	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		26	88	0	0	0	1	0	26	88				
TRAF3IP3	80342	broad.mit.edu	37	1	209935961	209935961	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209935961T>G	ENST00000367024.1	+	4	963	c.447T>G	c.(445-447)ctT>ctG	p.L149L	TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000010338.4_Silent_p.L129L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L|TRAF3IP3_ENST00000367025.3_Silent_p.L149L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	149						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTGGGGGCCTTCCTCCACAGG	0.592																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(445-447)ctT>ctG		TRAF3 interacting protein 3							63.0	63.0	63.0					1																	209935961		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209935961T>G		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.447T>G	1.37:g.209935961T>G						TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000367025.3_Silent_p.L149L|TRAF3IP3_ENST00000010338.4_Silent_p.L129L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L	p.L149L			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	4	963	+			149					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.447T>G	CCDS1490.2																																																																																				0.592	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			63	301	0	0	0	1	0	63	301				
MUC16	94025	broad.mit.edu	37	19	9062517	9062517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9062517C>A	ENST00000397910.4	-	3	25132	c.24929G>T	c.(24928-24930)aGg>aTg	p.R8310M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8312	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGCCCATCCTGTCTGTGGT	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24928-24930)aGg>aTg		mucin 16, cell surface associated							108.0	101.0	103.0					19																	9062517		1958	4156	6114	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062517C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24929G>T	19.37:g.9062517C>A	ENSP00000381008:p.Arg8310Met						p.R8310M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	25132	-			8312			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24929G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.250	-1.007424	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.21031	2.03	2.58	-5.16	0.02857	.	.	.	.	.	T	0.10380	0.0254	N	0.22421	0.69	.	.	.	B	0.23854	0.092	B	0.21917	0.037	T	0.19549	-1.0302	8	0.87932	D	0	.	0.8857	0.01243	0.3313:0.3119:0.159:0.1978	.	8310	B5ME49	.	M	8310	ENSP00000381008:R8310M	ENSP00000381008:R8310M	R	-	2	0	MUC16	8923517	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.886000	0.00712	-4.006000	0.00082	-0.815000	0.03128	AGG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		102	412	1	0	1.58717e-37	1	1.90651e-37	102	412				
AREL1	9870	broad.mit.edu	37	14	75140748	75140748	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75140748G>T	ENST00000356357.4	-	9	1662	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	383					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTTGTTCCTGGACACACTCGG	0.443																																						ENST00000356357.4																			0											c.(1147-1149)Cca>Aca		apoptosis resistant E3 ubiquitin protein ligase 1							72.0	74.0	73.0					14																	75140748		1899	4119	6018	SO:0001583	missense	9870							g.chr14:75140748G>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1147C>A	14.37:g.75140748G>T	ENSP00000348714:p.Pro383Thr					AREL1_ENST00000557401.1_5'UTR	p.P383T	NM_001039479.1	NP_001034568.1					9	1662	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1147C>A	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349756	0.82132	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.53423	0.62;0.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.991;0.992	T	0.69312	-0.5178	10	0.66056	D	0.02	.	17.1942	0.86888	0.0:0.0:1.0:0.0	.	383;383	O15033-2;O15033	.;K0317_HUMAN	T	383;222;222	ENSP00000348714:P383T;ENSP00000452101:P222T	ENSP00000348714:P383T	P	-	1	0	KIAA0317	74210501	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.284000	0.95882	2.720000	0.93068	0.650000	0.86243	CCA		0.443	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		21	108	1	0	1.90627e-21	1	2.14695e-21	21	108				
VWF	7450	broad.mit.edu	37	12	6232045	6232045	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6232045C>A	ENST00000261405.5	-	2	310				VWF_ENST00000572068.1_Missense_Mutation_p.Q4H|VWF_ENST00000545906.1_5'UTR	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTCCTCATCCTGTGCCCCCA	0.453																																						ENST00000572068.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(10-12)caG>caT		von Willebrand factor	Antihemophilic Factor(DB00025)						126.0	119.0	121.0					12																	6232045		876	1991	2867	SO:0001627	intron_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6232045C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.55+262G>T	12.37:g.6232045C>A						VWF_ENST00000261405.5_Intron|VWF_ENST00000545906.1_5'UTR	p.Q4H			P04275	VWF_HUMAN			3	392	-			0					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.12G>T	CCDS8539.1																																																																																				0.453	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		61	383	1	0	2.60599e-31	1	3.06669e-31	61	383				
GNPDA1	10007	broad.mit.edu	37	5	141384546	141384546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384546G>A	ENST00000508177.1	-	4	1303	c.545C>T	c.(544-546)cCc>cTc	p.P182L	GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L|GNPDA1_ENST00000513454.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	182					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGTGGGCACCTTGGT	0.587																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(544-546)cCc>cTc		glucosamine-6-phosphate deaminase 1							46.0	41.0	43.0					5																	141384546		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384546G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.545C>T	5.37:g.141384546G>A	ENSP00000423674:p.Pro182Leu					GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L|GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L|GNPDA1_ENST00000513454.1_Missense_Mutation_p.P182L	p.P182L			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1303	-		all_hematologic(541;0.118)	182					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.545C>T	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395760	0.96009	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000505689	T;T;T;T;T;T;T;T	0.81247	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-1.47;-0.86	5.84	5.84	0.93424	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95723	0.8768	10	0.87932	D	0	-14.6887	20.1187	0.97949	0.0:0.0:1.0:0.0	.	148;182	E7EVU7;P46926	.;GNPI1_HUMAN	L	182;182;148;182;182;182;105;203	ENSP00000423494:P182L;ENSP00000311876:P182L;ENSP00000387718:P148L;ENSP00000424275:P182L;ENSP00000423674:P182L;ENSP00000423485:P182L;ENSP00000445143:P105L;ENSP00000421524:P203L	ENSP00000311876:P182L	P	-	2	0	GNPDA1	141364730	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.767000	0.95098	0.591000	0.81541	CCC		0.587	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		16	90	0	0	0	1	0	16	90				
MYO1G	64005	broad.mit.edu	37	7	45009400	45009400	+	Silent	SNP	G	G	A	rs141395808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45009400G>A	ENST00000258787.7	-	11	1543	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	469	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGCAGGCCTCGTCCAGCACGG	0.612																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(1405-1407)gaC>gaT		myosin IG		G		1,4405	2.1+/-5.4	0,1,2202	111.0	113.0	112.0		1407	-5.4	0.9	7	dbSNP_134	112	0,8598		0,0,4299	no	coding-synonymous	MYO1G	NM_033054.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		469/1019	45009400	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45009400G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1407C>T	7.37:g.45009400G>A							p.D469D	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			11	1543	-			469			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	c.1407C>T	CCDS34629.1																																																																																				0.612	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			163	757	0	0	0	1	0	163	757				
KMT2C	58508	broad.mit.edu	37	7	151878240	151878240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878240C>A	ENST00000262189.6	-	36	6923	c.6705G>T	c.(6703-6705)agG>agT	p.R2235S	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2235S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2235	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCATTGAGGACCTAGTAAAAC	0.512																																						ENST00000355193.2																			0											c.(6703-6705)agG>agT		lysine (K)-specific methyltransferase 2C							95.0	96.0	96.0					7																	151878240		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878240C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6705G>T	7.37:g.151878240C>A	ENSP00000262189:p.Arg2235Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.R2235S	p.R2235S							36	6923	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6705G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853363	0.32791	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84146	-1.81;-1.81	5.37	3.45	0.39498	.	0.000000	0.47852	D	0.000201	T	0.76485	0.3994	L	0.57536	1.79	0.80722	D	1	P;B	0.35507	0.506;0.42	B;B	0.25506	0.051;0.061	T	0.71394	-0.4606	10	0.21540	T	0.41	.	8.4718	0.32991	0.0:0.7012:0.0:0.2988	.	2235;1296	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	2235	ENSP00000262189:R2235S;ENSP00000347325:R2235S	ENSP00000262189:R2235S	R	-	3	2	MLL3	151509173	0.000000	0.05858	0.562000	0.28370	0.977000	0.68977	-0.232000	0.09055	1.319000	0.45190	0.655000	0.94253	AGG		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			23	329	1	0	4.26978e-12	1	4.57227e-12	23	329				
MRPL37	51253	broad.mit.edu	37	1	54670848	54670848	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54670848G>A	ENST00000360840.5	+	2	581	c.504G>A	c.(502-504)gaG>gaA	p.E168E	MRPL37_ENST00000605337.1_Silent_p.E168E|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	168					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						AGACCACTGAGGAAATCCCCA	0.473																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(502-504)gaG>gaA		mitochondrial ribosomal protein L37							93.0	91.0	92.0					1																	54670848		2203	4300	6503	SO:0001819	synonymous_variant	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54670848G>A	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.504G>A	1.37:g.54670848G>A						MRPL37_ENST00000360840.5_Silent_p.E168E|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron	p.E168E			Q9BZE1	RM37_HUMAN			2	552	+			168					Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	ENST00000360840.5	37	c.504G>A	CCDS589.1																																																																																				0.473	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		71	267	0	0	0	1	0	71	267				
TBXA2R	6915	broad.mit.edu	37	19	3595695	3595695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3595695C>T	ENST00000375190.4	-	3	1416	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A212T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	341					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCTACTGCAGCCCGGAGCGCT	0.701																																						ENST00000589966.1																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(634-636)Gct>Act		thromboxane A2 receptor	Ridogrel(DB01207)						10.0	13.0	12.0					19																	3595695		2049	4161	6210	SO:0001819	synonymous_variant	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3595695C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.1023G>A	19.37:g.3595695C>T						TBXA2R_ENST00000375190.4_Silent_p.G341G|TBXA2R_ENST00000411851.3_Intron	p.A212T			P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	668	-		Hepatocellular(1079;0.137)	0					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.634G>A	CCDS42467.1																																																																																				0.701	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			15	34	0	0	0	1	0	15	34				
ANKRD11	29123	broad.mit.edu	37	16	89341252	89341252	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341252G>A	ENST00000301030.4	-	11	8143	c.7683C>T	c.(7681-7683)tcC>tcT	p.S2561S	ANKRD11_ENST00000378330.2_Silent_p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2561					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTAGACCTCGGAGTCCAGCA	0.647																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7681-7683)tcC>tcT		ankyrin repeat domain 11							59.0	58.0	58.0					16																	89341252		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341252G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7683C>T	16.37:g.89341252G>A						ANKRD11_ENST00000378330.2_Silent_p.S2561S	p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	11	8143	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2561					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7683C>T	CCDS32513.1																																																																																				0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		119	352	0	0	0	1	0	119	352				
OXTR	5021	broad.mit.edu	37	3	8794867	8794867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8794867G>T	ENST00000316793.3	-	4	1590	c.966C>A	c.(964-966)agC>agA	p.S322R	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	322					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GGTTGCAGCAGCTGTTGAGGC	0.592																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(964-966)agC>agA		oxytocin receptor	Carbetocin(DB01282)						63.0	57.0	59.0					3																	8794867		2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794867G>T		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.966C>A	3.37:g.8794867G>T	ENSP00000324270:p.Ser322Arg					CAV3_ENST00000472766.1_Intron	p.S322R	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1590	-			322					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.966C>A	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168596	0.94768	.	.	ENSG00000180914	ENST00000316793	T	0.79653	-1.29	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.078859	0.85682	D	0.000000	D	0.93321	0.7871	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95265	0.8372	10	0.87932	D	0	-42.436	17.3169	0.87227	0.0:0.0:1.0:0.0	.	322	P30559	OXYR_HUMAN	R	322	ENSP00000324270:S322R	ENSP00000324270:S322R	S	-	3	2	OXTR	8769867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.696000	0.84270	2.655000	0.90218	0.655000	0.94253	AGC		0.592	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			21	326	1	0	2.32416e-17	1	2.56562e-17	21	326				
ZNF600	162966	broad.mit.edu	37	19	53270299	53270299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53270299C>T	ENST00000338230.3	-	3	977	c.710G>A	c.(709-711)cGt>cAt	p.R237H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTGAAGTCTACGATGGCATGT	0.408																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(709-711)cGt>cAt		zinc finger protein 600							174.0	166.0	169.0					19																	53270299		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270299C>T	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.710G>A	19.37:g.53270299C>T	ENSP00000344791:p.Arg237His						p.R237H	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	977	-			237					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.710G>A	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	7.585	0.669634	0.14776	.	.	ENSG00000189190	ENST00000338230	T	0.07688	3.17	1.62	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	L	0.33339	1.005	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.41233	-0.9520	9	0.40728	T	0.16	.	0.5747	0.00701	0.1747:0.2268:0.1752:0.4233	.	237	Q6ZNG1	ZN600_HUMAN	H	237	ENSP00000344791:R237H	ENSP00000344791:R237H	R	-	2	0	ZNF600	57962111	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.889000	0.04144	-1.180000	0.02734	0.313000	0.20887	CGT		0.408	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		175	698	0	0	0	1	0	175	698				
KDM5C	8242	broad.mit.edu	37	X	53245326	53245326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53245326C>A	ENST00000375401.3	-	6	1243	c.711G>T	c.(709-711)caG>caT	p.Q237H	KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H|KDM5C_ENST00000452825.3_Missense_Mutation_p.Q170H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	237					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCCATAGATCTGTAGCTTTT	0.532			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(508-510)caG>caT		lysine (K)-specific demethylase 5C							113.0	101.0	105.0					X																	53245326		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53245326C>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.711G>T	X.37:g.53245326C>A	ENSP00000364550:p.Gln237His					KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H|KDM5C_ENST00000375401.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H	p.Q170H	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			4	1042	-			237					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.510G>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380961	0.61845	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87966	-2.32;-2.0;-2.01;-2.0;-2.16	4.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	M	0.83953	2.67	0.47659	D	0.999484	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.984;0.984	D	0.92310	0.5857	10	0.72032	D	0.01	-24.0144	10.1738	0.42927	0.0:0.8985:0.0:0.1015	.	170;236;237	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	H	170;237;236;237;196	ENSP00000445176:Q170H;ENSP00000364550:Q237H;ENSP00000385394:Q236H;ENSP00000364528:Q237H;ENSP00000364532:Q196H	ENSP00000364528:Q237H	Q	-	3	2	KDM5C	53262051	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.989000	0.56958	0.841000	0.35020	0.529000	0.55759	CAG		0.532	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		107	364	1	0	1.90623e-60	1	2.39773e-60	107	364				
UBA7	7318	broad.mit.edu	37	3	49842116	49842116	+	IGR	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49842116T>C	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.V187A	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCCCCTGGTACTAGGGGAC	0.627																																						ENST00000333323.4																			0											c.(559-561)gTa>gCa		family with sequence similarity 212, member A							55.0	53.0	54.0					3																	49842116		2203	4299	6502	SO:0001628	intergenic_variant	389119							g.chr3:49842116T>C	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842116T>C							p.V187A	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	693	+			185					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.560T>C	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339763	0.81911	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.44	5.44	0.79542	.	0.000000	0.44097	D	0.000487	T	0.78892	0.4355	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81762	-0.0784	9	0.87932	D	0	.	15.2199	0.73303	0.0:0.0:0.0:1.0	.	185	Q96EL1	CC054_HUMAN	A	187	.	ENSP00000329735:V187A	V	+	2	0	C3orf54	49817120	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.058000	0.71126	2.076000	0.62316	0.454000	0.30748	GTA		0.627	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		22	445	0	0	0	1	0	22	445				
MLPH	79083	broad.mit.edu	37	2	238449001	238449001	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238449001C>A	ENST00000264605.3	+	10	1409	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	MLPH_ENST00000410032.1_Missense_Mutation_p.A229D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000409373.1_Missense_Mutation_p.A304D|MLPH_ENST00000445024.2_Missense_Mutation_p.A372D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	372					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGTCTAGGTGCTGGAGTGCGC	0.632																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(1114-1116)gCt>gAt		melanophilin							60.0	58.0	59.0					2																	238449001		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238449001C>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1115C>A	2.37:g.238449001C>A	ENSP00000264605:p.Ala372Asp					MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000410032.1_Missense_Mutation_p.A229D|MLPH_ENST00000409373.1_Missense_Mutation_p.A304D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.A372D	p.A372D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	10	1409	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	372					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.1115C>A	CCDS2518.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.66|14.66|14.66	2.602683|2.602683|2.602683	0.46423|0.46423|0.46423	.|.|.	.|.|.	ENSG00000115648|ENSG00000115648|ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373;ENST00000437893|ENST00000415753|ENST00000436965	T;T;T;T;T;T|.|.	0.26810|.|.	1.95;2.11;1.95;1.92;1.71;1.87|.|.	4.34|4.34|4.34	-1.32|-1.32|-1.32	0.09201|0.09201|0.09201	.|.|.	1.852170|.|.	0.04248|.|.	N|.|.	0.338191|.|.	T|.|T	0.26774|.|0.26774	0.0655|.|0.0655	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;D;D;P;D;P;P;B|.|.	0.57571|.|.	0.158;0.98;0.974;0.839;0.958;0.9;0.883;0.102|.|.	B;P;P;B;P;P;P;B|.|.	0.51657|.|.	0.028;0.601;0.676;0.347;0.587;0.549;0.482;0.037|.|.	T|.|T	0.28586|.|0.28586	-1.0039|.|-1.0039	10|.|5	0.10377|.|.	T|.|.	0.69|.|.	-2.1634|-2.1634|-2.1634	2.0399|2.0399|2.0399	0.03548|0.03548|0.03548	0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891	.|.|.	33;372;228;344;304;344;372;229|.|.	Q53QV8;B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5|.|.	.;.;.;.;.;.;MELPH_HUMAN;.|.|.	D|X|M	229;372;372;344;304;132|59|93	ENSP00000386338:A229D;ENSP00000264605:A372D;ENSP00000414849:A372D;ENSP00000341845:A344D;ENSP00000386780:A304D;ENSP00000412438:A132D|.|.	ENSP00000264605:A372D|.|.	A|C|L	+|+|+	2|3|1	0|2|2	MLPH|MLPH|MLPH	238113740|238113740|238113740	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.003000|0.003000|0.003000	0.03518|0.03518|0.03518	0.487000|0.487000|0.487000	0.22356|0.22356|0.22356	-0.248000|-0.248000|-0.248000	0.09583|0.09583|0.09583	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|TGC|CTG		0.632	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		60	149	1	0	1.95512e-22	1	2.21276e-22	60	149				
BOD1L1	259282	broad.mit.edu	37	4	13604071	13604071	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13604071T>G	ENST00000040738.5	-	10	4588	c.4453A>C	c.(4453-4455)Agt>Cgt	p.S1485R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1485						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTCCAGCACTGGTGTCTACC	0.438																																						ENST00000040738.5																			0											c.(4453-4455)Agt>Cgt		biorientation of chromosomes in cell division 1-like 1							91.0	74.0	80.0					4																	13604071		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604071T>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4453A>C	4.37:g.13604071T>G	ENSP00000040738:p.Ser1485Arg						p.S1485R	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4588	-			1485					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4453A>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683646	0.68157	.	.	ENSG00000038219	ENST00000040738	T	0.16457	2.34	5.37	5.37	0.77165	.	0.094439	0.46145	D	0.000305	T	0.30355	0.0762	L	0.34521	1.04	0.43080	D	0.994734	D	0.89917	1.0	D	0.83275	0.996	T	0.02512	-1.1148	10	0.39692	T	0.17	-8.4343	13.9338	0.64012	0.0:0.0:0.0:1.0	.	1485	Q8NFC6	BOD1L_HUMAN	R	1485	ENSP00000040738:S1485R	ENSP00000040738:S1485R	S	-	1	0	BOD1L	13213169	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	4.896000	0.63222	2.035000	0.60131	0.528000	0.53228	AGT		0.438	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		42	143	0	0	0	1	0	42	143				
LIMD1	8994	broad.mit.edu	37	3	45636972	45636972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45636972G>A	ENST00000273317.4	+	1	622	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	LIMD1_ENST00000440097.1_Missense_Mutation_p.G201S|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	201	Interaction with EGLN1/PHD2.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCAGCATCGGCCTGAGTGT	0.597																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(601-603)Ggc>Agc		LIM domains containing 1							79.0	78.0	79.0					3																	45636972		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636972G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.601G>A	3.37:g.45636972G>A	ENSP00000273317:p.Gly201Ser					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.G201S	p.G201S	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	622	+			201					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.601G>A	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	0.593	-0.832142	0.02713	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.56275	0.47;0.67	4.7	0.984	0.19773	.	1.041780	0.07538	N	0.913381	T	0.23611	0.0571	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.20974	-1.0259	10	0.02654	T	1	.	7.038	0.25004	0.7254:0.0:0.2746:0.0	.	201	Q9UGP4	LIMD1_HUMAN	S	201	ENSP00000394537:G201S;ENSP00000273317:G201S	ENSP00000273317:G201S	G	+	1	0	LIMD1	45611976	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.767000	0.26575	-0.067000	0.12976	-0.379000	0.06801	GGC		0.597	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		63	312	0	0	0	1	0	63	312				
DPH1	1801	broad.mit.edu	37	17	1943817	1943817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943817C>T	ENST00000263083.6	+	9	985	c.940C>T	c.(940-942)Cga>Tga	p.R314*	DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*|RP11-667K14.3_ENST00000572790.1_lincRNA|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	314					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTCGACTCCGAGCCTTGGG	0.577																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(940-942)Cga>Tga		diphthamide biosynthesis 1							84.0	82.0	83.0					17																	1943817		2057	4212	6269	SO:0001587	stop_gained	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943817C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.940C>T	17.37:g.1943817C>T	ENSP00000263083:p.Arg314*					DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*	p.R314*	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			9	985	+			314					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Nonsense_Mutation	SNP	ENST00000263083.6	37	c.940C>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	40	7.956974	0.98580	.	.	ENSG00000108963	ENST00000263083	.	.	.	5.25	3.18	0.36537	.	0.822586	0.11389	N	0.569013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	3.1253	9.3191	0.37952	0.1461:0.7767:0.0:0.0773	.	.	.	.	X	314	.	ENSP00000263083:R314X	R	+	1	2	DPH1	1890567	0.025000	0.19082	0.052000	0.19188	0.171000	0.22731	1.746000	0.38288	1.152000	0.42452	0.561000	0.74099	CGA		0.577	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		63	355	0	0	0	1	0	63	355				
SPATA22	84690	broad.mit.edu	37	17	3343532	3343532	+	Missense_Mutation	SNP	G	G	A	rs377104896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3343532G>A	ENST00000573128.1	-	9	1484	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	334					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGAAACAGACGCCGGTCTGAC	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15473	0.0		0.0	False		,,,				2504	0.0					ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(1000-1002)gCg>gTg		spermatogenesis associated 22		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	66.0	72.0	70.0		1001,872,1001,1001,,1001	5.7	1.0	17		70	0,8600		0,0,4300	no	missense,missense,missense,missense,utr-3,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	64,64,64,64,,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	334/364,291/321,334/364,334/364,,334/364	3343532	2,13004	2203	4300	6503	SO:0001583	missense	84690							g.chr17:3343532G>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.1001C>T	17.37:g.3343532G>A	ENSP00000459580:p.Ala334Val					SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V	p.A334V			Q8NHS9	SPT22_HUMAN			9	1484	-			334					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.1001C>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886862	0.91814	4.54E-4	0.0	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.37752	1.18;1.18;1.18	5.71	5.71	0.89125	.	0.256413	0.31542	N	0.007477	T	0.43122	0.1233	N	0.19112	0.55	0.39359	D	0.965891	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.57324	0.818;0.818;0.818	T	0.44205	-0.9343	10	0.87932	D	0	-19.6519	19.2308	0.93839	0.0:0.0:1.0:0.0	.	318;291;334	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	V	291;334;318	ENSP00000347541:A291V;ENSP00000380354:A334V;ENSP00000441920:A318V	ENSP00000347541:A291V	A	-	2	0	SPATA22	3290282	1.000000	0.71417	0.992000	0.48379	0.875000	0.50365	5.895000	0.69814	2.868000	0.98415	0.557000	0.71058	GCG		0.378	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		41	355	0	0	0	1	0	41	355				
SPTAN1	6709	broad.mit.edu	37	9	131369983	131369983	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131369983G>A	ENST00000372731.4	+	32	4256		c.e32+1		SPTAN1_ENST00000372739.3_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGACACCAGGTGGGTGGACC	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.e32+1		spectrin, alpha, non-erythrocytic 1							117.0	110.0	112.0					9																	131369983		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131369983G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4146+1G>A	9.37:g.131369983G>A						SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000372739.3_Splice_Site				Q13813	SPTA2_HUMAN			32	4259	+								Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Splice_Site	SNP	ENST00000372731.4	37		CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382121	0.82792	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6771	0.95939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130409804	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	9.186000	0.94906	2.732000	0.93576	0.655000	0.94253	.		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Intron	24	580	0	0	0	1	0	24	580				
ASXL3	80816	broad.mit.edu	37	18	31325027	31325027	+	Missense_Mutation	SNP	C	C	T	rs376309030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31325027C>T	ENST00000269197.5	+	12	5215	c.5215C>T	c.(5215-5217)Cgt>Tgt	p.R1739C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1739					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCAGGCTGTCGTCTGTCCTC	0.542																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5215-5217)Cgt>Tgt		additional sex combs like 3 (Drosophila)		C	CYS/ARG	0,4064		0,0,2032	74.0	75.0	75.0		5215	5.9	0.7	18		75	1,8401		0,1,4200	no	missense	ASXL3	NM_030632.1	180	0,1,6232	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1739/2249	31325027	1,12465	2032	4201	6233	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325027C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5215C>T	18.37:g.31325027C>T	ENSP00000269197:p.Arg1739Cys						p.R1739C	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5215	+			1739					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5215C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413428	0.42817	0.0	1.19E-4	ENSG00000141431	ENST00000269197	T	0.17054	2.3	5.86	5.86	0.93980	.	.	.	.	.	T	0.34106	0.0886	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.03068	-1.1076	9	0.66056	D	0.02	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1739	Q9C0F0	ASXL3_HUMAN	C	1739	ENSP00000269197:R1739C	ENSP00000269197:R1739C	R	+	1	0	ASXL3	29579025	1.000000	0.71417	0.668000	0.29813	0.168000	0.22595	5.359000	0.66074	2.775000	0.95449	0.655000	0.94253	CGT		0.542	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			45	234	0	0	0	1	0	45	234				
KDM3B	51780	broad.mit.edu	37	5	137765648	137765648	+	Silent	SNP	C	C	A	rs199823957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137765648C>A	ENST00000314358.5	+	21	5087	c.4887C>A	c.(4885-4887)ctC>ctA	p.L1629L	KDM3B_ENST00000394866.1_Silent_p.L1285L|KDM3B_ENST00000542866.1_Silent_p.L661L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1629	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGAGCTGCTCCGAAAGGTAC	0.527																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(4885-4887)ctC>ctA		lysine (K)-specific demethylase 3B							57.0	56.0	56.0					5																	137765648		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137765648C>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4887C>A	5.37:g.137765648C>A						KDM3B_ENST00000542866.1_Silent_p.L661L|KDM3B_ENST00000394866.1_Silent_p.L1285L	p.L1629L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			21	5087	+			1629			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.4887C>A	CCDS34242.1																																																																																				0.527	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		36	148	1	0	8.73648e-17	1	9.61379e-17	36	148				
FNDC1	84624	broad.mit.edu	37	6	159654596	159654596	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654596G>A	ENST00000297267.9	+	11	3252	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1018					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)		GCACCACCCGGGACCCCAGAG	0.721																																						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.(3052-3054)Gga>Aga		fibronectin type III domain containing 1							11.0	14.0	13.0					6																	159654596		2053	4180	6233	SO:0001583	missense	84624					extracellular region		g.chr6:159654596G>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.3052G>A	6.37:g.159654596G>A	ENSP00000297267:p.Gly1018Arg					FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	p.G1018R	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	3252	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1018					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3052G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.158991|2.158991	0.38119|0.38119	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08102	.|3.13;3.95	4.33|4.33	-1.78|-1.78	0.07957|0.07957	.|.	1.212080|1.212080	0.05915|0.05915	N|N	0.632382|0.632382	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24368	.|0.102;0.062	.|B;B	.|0.21151	.|0.033;0.015	T|T	0.47497|0.47497	-0.9113|-0.9113	6|10	.|0.14656	.|T	.|0.56	-1.4918|-1.4918	8.5689|8.5689	0.33556|0.33556	0.6941:0.0:0.3059:0.0|0.6941:0.0:0.3059:0.0	.|.	.|955;1018	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	E|R	913|1018;955	.|ENSP00000297267:G1018R;ENSP00000342460:G955R	.|ENSP00000297267:G1018R	G|G	+|+	2|1	0|0	FNDC1|FNDC1	159574586|159574586	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.074000|0.074000	0.17049|0.17049	0.050000|0.050000	0.14120|0.14120	-0.150000|-0.150000	0.11195|0.11195	-0.291000|-0.291000	0.09656|0.09656	GGG|GGA		0.721	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		11	41	0	0	0	1	0	11	41				
NCAPH	23397	broad.mit.edu	37	2	97009891	97009891	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97009891A>C	ENST00000240423.4	+	6	687	c.644A>C	c.(643-645)aAg>aCg	p.K215T	NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T|NCAPH_ENST00000455200.1_Missense_Mutation_p.K204T	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	215					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTAAAGCCAAAGAAGAAGCAC	0.438																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(610-612)aAg>aCg		non-SMC condensin I complex, subunit H							115.0	103.0	107.0					2																	97009891		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97009891A>C	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.644A>C	2.37:g.97009891A>C	ENSP00000240423:p.Lys215Thr					NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T|NCAPH_ENST00000240423.4_Missense_Mutation_p.K215T	p.K204T			Q15003	CND2_HUMAN			6	906	+		Ovarian(717;0.0221)	215					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.611A>C	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304597	0.60305	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.43	4.29	0.51040	.	0.151158	0.64402	D	0.000018	T	0.71151	0.3306	M	0.75264	2.295	0.44547	D	0.997506	P;P;P;P	0.51653	0.89;0.89;0.947;0.89	P;P;P;P	0.56751	0.636;0.636;0.805;0.636	T	0.70263	-0.4920	10	0.41790	T	0.15	-18.9547	8.7826	0.34800	0.9065:0.0:0.0935:0.0	.	191;204;204;215	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	T	215;79;204;204	ENSP00000240423:K215T;ENSP00000400774:K79T;ENSP00000405237:K204T;ENSP00000407308:K204T	ENSP00000240423:K215T	K	+	2	0	NCAPH	96373618	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.687000	0.54692	1.034000	0.39945	0.524000	0.50904	AAG		0.438	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		62	254	0	0	0	1	0	62	254				
FLG2	388698	broad.mit.edu	37	1	152324909	152324909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152324909G>A	ENST00000388718.5	-	3	5425	c.5353C>T	c.(5353-5355)Cat>Tat	p.H1785Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1785					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTCCATGACCAGAGTGG	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5353-5355)Cat>Tat		filaggrin family member 2							311.0	263.0	280.0					1																	152324909		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324909G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5353C>T	1.37:g.152324909G>A	ENSP00000373370:p.His1785Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H1785Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5425	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1785					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5353C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879673	0.33162	.	.	ENSG00000143520	ENST00000388718	T	0.37915	1.17	3.85	2.9	0.33743	.	.	.	.	.	T	0.15912	0.0383	M	0.65975	2.015	0.09310	N	1	D	0.56968	0.978	P	0.45998	0.5	T	0.15896	-1.0421	9	0.02654	T	1	.	9.3816	0.38318	0.0:0.219:0.781:0.0	.	1785	Q5D862	FILA2_HUMAN	Y	1785	ENSP00000373370:H1785Y	ENSP00000373370:H1785Y	H	-	1	0	FLG2	150591533	0.042000	0.20092	0.003000	0.11579	0.417000	0.31264	1.166000	0.31834	0.953000	0.37825	0.297000	0.19635	CAT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		20	1471	0	0	0	1	0	20	1471				
CHRNA4	1137	broad.mit.edu	37	20	61981707	61981707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981707C>T	ENST00000370263.4	-	5	1277	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	352					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCAGGCGTGGCACGATGTCCA	0.632																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1054-1056)gtG>gtA		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						110.0	78.0	89.0					20																	61981707		2203	4300	6503	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981707C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1056G>A	20.37:g.61981707C>T						CHRNA4_ENST00000463705.1_5'UTR	p.V352V	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1277	-	all_cancers(38;1.71e-10)		352					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1056G>A	CCDS13517.1																																																																																				0.632	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			64	249	0	0	0	1	0	64	249				
COLGALT1	79709	broad.mit.edu	37	19	17692040	17692040	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17692040G>A	ENST00000252599.4	+	12	1776	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	552					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TCTCTGTGGAGCCGCTGCTCA	0.592																																						ENST00000252599.4																			0											c.(1654-1656)gaG>gaA		collagen beta(1-O)galactosyltransferase 1							219.0	192.0	202.0					19																	17692040		2203	4300	6503	SO:0001819	synonymous_variant	79709							g.chr19:17692040G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1656G>A	19.37:g.17692040G>A							p.E552E	NM_024656.2	NP_078932.2					12	1776	+								Q8NC64	Silent	SNP	ENST00000252599.4	37	c.1656G>A	CCDS12363.1																																																																																				0.592	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		256	1061	0	0	0	1	0	256	1061				
LRP6	4040	broad.mit.edu	37	12	12312866	12312866	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12312866G>T	ENST00000261349.4	-	11	2388	c.2312C>A	c.(2311-2313)cCt>cAt	p.P771H	LRP6_ENST00000543091.1_Missense_Mutation_p.P771H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	771	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCTATCTTAGGTTTTCCACC	0.358																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(2311-2313)cCt>cAt		low density lipoprotein receptor-related protein 6							117.0	106.0	110.0					12																	12312866		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12312866G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2312C>A	12.37:g.12312866G>T	ENSP00000261349:p.Pro771His					LRP6_ENST00000543091.1_Missense_Mutation_p.P771H	p.P771H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			11	2388	-		Prostate(47;0.0865)	771			Beta-propeller 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2312C>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311587	0.81358	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96685	-4.09;-4.09	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000009	D	0.98701	0.9564	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98922	1.0784	10	0.54805	T	0.06	.	19.7619	0.96323	0.0:0.0:1.0:0.0	.	771;771	F5H7J9;O75581	.;LRP6_HUMAN	H	771	ENSP00000261349:P771H;ENSP00000442472:P771H	ENSP00000261349:P771H	P	-	2	0	LRP6	12204133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.681000	0.91329	0.561000	0.74099	CCT		0.358	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			88	455	1	0	1.17954e-47	1	1.45276e-47	88	455				
REV3L	5980	broad.mit.edu	37	6	111693934	111693934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111693934G>T	ENST00000358835.3	-	14	6078	c.5624C>A	c.(5623-5625)gCt>gAt	p.A1875D	REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D|REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D|REV3L_ENST00000435970.1_Missense_Mutation_p.A1797D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1875	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGAATGTTAGCAGTTCGAGG	0.418								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5389-5391)gCt>gAt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							183.0	189.0	187.0					6																	111693934		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693934G>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5624C>A	6.37:g.111693934G>T	ENSP00000351697:p.Ala1875Asp					REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D|REV3L_ENST00000358835.3_Missense_Mutation_p.A1875D|REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D	p.A1797D			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6206	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1875					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5390C>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498395	0.64298	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01613	4.82;4.82;4.82;4.73	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.125034	0.56097	D	0.000040	T	0.02012	0.0063	L	0.44542	1.39	0.42120	D	0.991422	D	0.63880	0.993	P	0.56343	0.796	T	0.70292	-0.4912	10	0.15499	T	0.54	-5.523	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	1875	O60673	DPOLZ_HUMAN	D	1875;1875;1875;1797	ENSP00000357792:A1875D;ENSP00000357795:A1875D;ENSP00000351697:A1875D;ENSP00000402003:A1797D	ENSP00000351697:A1875D	A	-	2	0	REV3L	111800627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.631000	0.83237	2.805000	0.96524	0.655000	0.94253	GCT		0.418	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		157	709	1	0	5.74082e-73	1	7.30534e-73	157	709				
AHCTF1	25909	broad.mit.edu	37	1	247040288	247040288	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247040288G>T	ENST00000391829.2	-	23	3024	c.2901C>A	c.(2899-2901)gcC>gcA	p.A967A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.A1002A|AHCTF1_ENST00000326225.3_Silent_p.A976A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	967	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCAGCTTCAAGGCAGGCACAT	0.388																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3004-3006)gcC>gcA		AT hook containing transcription factor 1							86.0	84.0	85.0					1																	247040288		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247040288G>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2901C>A	1.37:g.247040288G>T						AHCTF1_ENST00000391829.2_Silent_p.A967A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A976A	p.A1002A			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		23	3142	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	967					A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.3006C>A																																																																																					0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		76	300	1	0	3.4779e-39	1	4.20191e-39	76	300				
ZNF675	171392	broad.mit.edu	37	19	23845935	23845935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23845935G>A	ENST00000359788.4	-	2	197	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAATTCTATGGCCACATCCCT	0.393																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(28-30)gCc>gTc		zinc finger protein 675							94.0	101.0	99.0					19																	23845935		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23845935G>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.29C>T	19.37:g.23845935G>A	ENSP00000352836:p.Ala10Val					ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V	p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			2	197	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	10			KRAB.		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.29C>T	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.561883	0.27915	.	.	ENSG00000197372	ENST00000359788	T	0.03301	3.98	0.926	0.926	0.19430	Krueppel-associated box (4);	.	.	.	.	T	0.08268	0.0206	M	0.83312	2.635	0.09310	N	0.999999	P	0.35456	0.502	B	0.41619	0.361	T	0.18304	-1.0341	9	0.51188	T	0.08	.	4.9893	0.14205	0.0:0.0:1.0:0.0	.	10	Q8TD23	ZN675_HUMAN	V	10	ENSP00000352836:A10V	ENSP00000352836:A10V	A	-	2	0	ZNF675	23637775	0.198000	0.23374	0.049000	0.19019	0.050000	0.14768	1.691000	0.37721	0.308000	0.22923	0.313000	0.20887	GCC		0.393	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		123	590	0	0	0	1	0	123	590				
TMEM131	23505	broad.mit.edu	37	2	98422056	98422056	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98422056T>C	ENST00000186436.5	-	20	2394	c.2166A>G	c.(2164-2166)ttA>ttG	p.L722L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	722						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATTGCCCCGTAATCGTTTAT	0.323																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2164-2166)ttA>ttG		transmembrane protein 131							192.0	202.0	199.0					2																	98422056		1817	4076	5893	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98422056T>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2166A>G	2.37:g.98422056T>C							p.L722L	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			20	2394	-			722						Silent	SNP	ENST00000186436.5	37	c.2166A>G	CCDS46368.1																																																																																				0.323	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		266	918	0	0	0	1	0	266	918				
CKM	1158	broad.mit.edu	37	19	45810739	45810739	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45810739C>T	ENST00000221476.3	-	7	1121	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	316	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CTTCTGCAGACGCAGGCGGGT	0.637																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(946-948)cGt>cAt		creatine kinase, muscle	Creatine(DB00148)						60.0	57.0	58.0					19																	45810739		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45810739C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.947G>A	19.37:g.45810739C>T	ENSP00000221476:p.Arg316His						p.R316H	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	7	1121	-		Ovarian(192;0.0336)|all_neural(266;0.112)	316			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.947G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834522	0.91036	.	.	ENSG00000104879	ENST00000221476	T	0.23754	1.89	5.3	5.3	0.74995	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.050664	0.85682	N	0.000000	T	0.52484	0.1737	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.53774	-0.8391	10	0.51188	T	0.08	-38.8761	16.4485	0.83972	0.0:1.0:0.0:0.0	.	316	P06732	KCRM_HUMAN	H	316	ENSP00000221476:R316H	ENSP00000221476:R316H	R	-	2	0	CKM	50502579	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.049000	0.71053	2.500000	0.84329	0.561000	0.74099	CGT		0.637	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			11	115	0	0	0	1	0	11	115				
PTPN13	5783	broad.mit.edu	37	4	87637706	87637706	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87637706T>C	ENST00000411767.2	+	8	1282	c.1219T>C	c.(1219-1221)Tat>Cat	p.Y407H	PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000436978.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	407					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATACAAAACTTATCATGGTGA	0.323																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1219-1221)Tat>Cat		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							81.0	75.0	77.0					4																	87637706		1811	4084	5895	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87637706T>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1219T>C	4.37:g.87637706T>C	ENSP00000407249:p.Tyr407His					PTPN13_ENST00000411767.2_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H	p.Y407H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	8	1699	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	407					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.1219T>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429610	0.43122	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.59364	0.27;0.31;0.42;0.28;0.31	5.27	4.09	0.47781	.	0.165491	0.28510	N	0.015093	T	0.63581	0.2523	M	0.67953	2.075	0.44042	D	0.996777	P;P;P;P	0.49961	0.828;0.915;0.93;0.915	P;P;P;P	0.53360	0.632;0.724;0.665;0.724	T	0.59794	-0.7387	10	0.22109	T	0.4	.	11.166	0.48543	0.0:0.0728:0.0:0.9272	.	407;407;407;407	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	407;407;407;407;407;375	ENSP00000408368:Y407H;ENSP00000394794:Y407H;ENSP00000322675:Y407H;ENSP00000407249:Y407H;ENSP00000426626:Y407H	ENSP00000322675:Y407H	Y	+	1	0	PTPN13	87856730	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	5.344000	0.65981	0.961000	0.38030	-0.380000	0.06706	TAT		0.323	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	39	0	0	0	1	0	6	39				
MED22	6837	broad.mit.edu	37	9	136208494	136208494	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136208494C>A	ENST00000491289.1	-	5	1045	c.464G>T	c.(463-465)aGg>aTg	p.R155M	MED22_ENST00000343730.5_Missense_Mutation_p.R155M|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000476080.1_3'UTR|MED22_ENST00000344469.5_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	155						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GAGGTCCAGCCTCCCGTAAGC	0.637																																						ENST00000491289.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4						c.(463-465)aGg>aTg		mediator complex subunit 22							55.0	56.0	56.0					9																	136208494		2203	4300	6503	SO:0001583	missense	6837				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	g.chr9:136208494C>A		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.464G>T	9.37:g.136208494C>A	ENSP00000420393:p.Arg155Met					MED22_ENST00000476080.1_3'UTR|MED22_ENST00000486395.1_Intron|MED22_ENST00000343730.5_Missense_Mutation_p.R155M|MED22_ENST00000344469.5_3'UTR	p.R155M			Q15528	MED22_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)	5	1045	-			155					B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	c.464G>T	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137971	0.77775	.	.	ENSG00000148297	ENST00000491289;ENST00000343730	.	.	.	4.56	4.56	0.56223	.	0.402007	0.27464	N	0.019259	T	0.50137	0.1598	L	0.27053	0.805	0.80722	D	1	P	0.50943	0.94	P	0.50231	0.635	T	0.56469	-0.7974	9	0.87932	D	0	-8.2001	14.6524	0.68808	0.0:1.0:0.0:0.0	.	155	Q15528	MED22_HUMAN	M	155	.	ENSP00000342343:R155M	R	-	2	0	MED22	135198315	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.500000	0.53318	2.355000	0.79922	0.563000	0.77884	AGG		0.637	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		6	191	1	0	8.12818e-05	1	8.2724e-05	6	191				
FAM166A	401565	broad.mit.edu	37	9	140138683	140138683	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140138683G>T	ENST00000344774.4	-	6	859	c.805C>A	c.(805-807)Ccc>Acc	p.P269T		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	269						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGTTGCTGGGCCAGTGTGTT	0.607																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(805-807)Ccc>Acc		family with sequence similarity 166, member A							129.0	99.0	109.0					9																	140138683		2203	4300	6503	SO:0001583	missense	401565							g.chr9:140138683G>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.805C>A	9.37:g.140138683G>T	ENSP00000344729:p.Pro269Thr						p.P269T	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			6	859	-			269					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.805C>A	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685172	0.47991	.	.	ENSG00000188163	ENST00000344774	.	.	.	4.99	4.99	0.66335	.	0.080970	0.50627	D	0.000108	T	0.74099	0.3672	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70543	-0.4843	9	0.28530	T	0.3	-18.8756	16.0952	0.81114	0.0:0.0:1.0:0.0	.	269	Q6J272	F166A_HUMAN	T	269	.	ENSP00000344729:P269T	P	-	1	0	FAM166A	139258504	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	6.678000	0.74508	2.474000	0.83562	0.549000	0.68633	CCC		0.607	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		18	255	1	0	1.67942e-08	1	1.75525e-08	18	255				
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44097296C>T	ENST00000602269.1	-	2	939	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000422989.1_Missense_Mutation_p.A252T|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(754-756)Gct>Act		immunity-related GTPase family, Q							28.0	33.0	31.0					19																	44097296		2201	4298	6499	SO:0001583	missense	126298						protein binding	g.chr19:44097296C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.754G>A	19.37:g.44097296C>T	ENSP00000472250:p.Ala252Thr					IRGQ_ENST00000602269.1_Missense_Mutation_p.A252T	p.A252T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	909	-		Prostate(69;0.0199)	252					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.754G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849297	0.51270	.	.	ENSG00000167378	ENST00000422989	T	0.66460	-0.21	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.76842	0.4044	M	0.64997	1.995	0.09310	N	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.67360	-0.5690	10	0.66056	D	0.02	-20.4241	10.9344	0.47237	0.0:0.8108:0.1892:0.0	.	252	Q8WZA9	IRGQ_HUMAN	T	252	ENSP00000387535:A252T	ENSP00000387535:A252T	A	-	1	0	IRGQ	48789136	0.626000	0.27120	0.182000	0.23118	0.348000	0.29142	3.325000	0.52030	2.782000	0.95742	0.655000	0.94253	GCT		0.692	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		57	245	0	0	0	1	0	57	245				
FAM83G	644815	broad.mit.edu	37	17	18881246	18881246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881246C>A	ENST00000388995.6	-	5	1956	c.1733G>T	c.(1732-1734)gGg>gTg	p.G578V	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	578					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCTTCCACCCCATCCAGCCC	0.667																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1732-1734)gGg>gTg		family with sequence similarity 83, member G							47.0	54.0	52.0					17																	18881246		1990	4144	6134	SO:0001583	missense	644815							g.chr17:18881246C>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1733G>T	17.37:g.18881246C>A	ENSP00000373647:p.Gly578Val					FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.G578V			A6ND36	FA83G_HUMAN			5	1956	-			578					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1733G>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685496	0.14973	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11604	2.76;2.76	5.91	0.462	0.16695	.	0.705821	0.14695	N	0.303887	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999999	D	0.54047	0.964	P	0.49752	0.621	T	0.10177	-1.0641	10	0.46703	T	0.11	-4.8825	8.4901	0.33095	0.0:0.4611:0.0:0.5389	.	578	A6ND36	FA83G_HUMAN	V	578	ENSP00000373647:G578V;ENSP00000343279:G578V	ENSP00000343279:G578V	G	-	2	0	FAM83G	18821971	0.000000	0.05858	0.002000	0.10522	0.316000	0.28119	0.073000	0.14640	0.225000	0.20959	0.655000	0.94253	GGG		0.667	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			110	502	1	0	7.98965e-42	1	9.7163e-42	110	502				
GPR133	283383	broad.mit.edu	37	12	131498749	131498749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131498749C>T	ENST00000261654.5	+	13	1896	c.1337C>T	c.(1336-1338)gCg>gTg	p.A446V	GPR133_ENST00000535015.1_Missense_Mutation_p.A478V|GPR133_ENST00000376682.4_Missense_Mutation_p.A132V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	446					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAAGGATCGCGGAGGCCATG	0.587																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1336-1338)gCg>gTg		G protein-coupled receptor 133							96.0	84.0	88.0					12																	131498749		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131498749C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1337C>T	12.37:g.131498749C>T	ENSP00000261654:p.Ala446Val					GPR133_ENST00000535015.1_Missense_Mutation_p.A478V|GPR133_ENST00000376682.4_Missense_Mutation_p.A132V	p.A446V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	13	1896	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		446					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1337C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.980784	0.34942	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000545900;ENST00000376682	T;T;T	0.43688	0.95;0.94;0.95	4.43	3.52	0.40303	.	0.642937	0.15993	N	0.234703	T	0.32526	0.0832	L	0.53249	1.67	0.09310	N	0.999992	B;B	0.33120	0.342;0.398	B;B	0.19391	0.025;0.025	T	0.20538	-1.0272	10	0.44086	T	0.13	.	8.8773	0.35354	0.0:0.8878:0.0:0.1122	.	478;446	B7ZLF7;Q6QNK2	.;GP133_HUMAN	V	446;478;142;132	ENSP00000261654:A446V;ENSP00000444425:A478V;ENSP00000365872:A132V	ENSP00000261654:A446V	A	+	2	0	GPR133	130064702	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	1.699000	0.37804	2.183000	0.69458	0.645000	0.84053	GCG		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		53	300	0	0	0	1	0	53	300				
GHR	2690	broad.mit.edu	37	5	42695175	42695175	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42695175C>A	ENST00000230882.4	+	5	613	c.423C>A	c.(421-423)ttC>ttA	p.F141L	GHR_ENST00000357703.3_Missense_Mutation_p.F119L|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	141					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGTTTCTCTGTTGATG	0.358																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(421-423)ttC>ttA		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						94.0	90.0	91.0					5																	42695175		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42695175C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.423C>A	5.37:g.42695175C>A	ENSP00000230882:p.Phe141Leu					GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.F119L	p.F141L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			5	613	+		Myeloproliferative disorder(839;0.00878)	141					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.423C>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087062	0.76642	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.95918	-3.85;-3.85	5.14	5.14	0.70334	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97520	0.9188	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97849	1.0273	10	0.62326	D	0.03	-12.8885	15.3502	0.74376	0.0:0.8601:0.1399:0.0	.	141	P10912	GHR_HUMAN	L	141;119;141	ENSP00000230882:F141L;ENSP00000350335:F119L	ENSP00000230882:F141L	F	+	3	2	GHR	42730932	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.603000	0.54074	2.537000	0.85549	0.585000	0.79938	TTC		0.358	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		33	145	1	0	2.09667e-21	1	2.36065e-21	33	145				
CCDC63	160762	broad.mit.edu	37	12	111317744	111317744	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111317744A>C	ENST00000308208.5	+	6	766	c.524A>C	c.(523-525)aAt>aCt	p.N175T	CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	175										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTGACCACTAATGCCAAGCTC	0.458																																						ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(523-525)aAt>aCt		coiled-coil domain containing 63							148.0	139.0	142.0					12																	111317744		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111317744A>C	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.524A>C	12.37:g.111317744A>C	ENSP00000312399:p.Asn175Thr					CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T|CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T	p.N175T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			6	766	+			175					B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.524A>C	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511850	0.64522	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.74632	-0.82;-0.86;-0.8	5.04	5.04	0.67666	.	0.247417	0.45126	D	0.000382	D	0.84442	0.5473	M	0.77820	2.39	0.36117	D	0.845229	D	0.76494	0.999	D	0.67382	0.951	D	0.89232	0.3578	10	0.72032	D	0.01	.	12.1587	0.54091	1.0:0.0:0.0:0.0	.	175	Q8NA47	CCD63_HUMAN	T	135;175;96	ENSP00000445881:N135T;ENSP00000312399:N175T;ENSP00000450217:N96T	ENSP00000312399:N175T	N	+	2	0	CCDC63	109802127	0.997000	0.39634	0.161000	0.22692	0.870000	0.49936	5.743000	0.68655	1.911000	0.55334	0.379000	0.24179	AAT		0.458	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		226	609	0	0	0	1	0	226	609				
ELN	2006	broad.mit.edu	37	7	73470641	73470641	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73470641C>T	ENST00000252034.7	+	20	1590	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000358929.4_Silent_p.Y397Y|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000380553.4_Silent_p.Y280Y|ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000320399.6_Silent_p.Y397Y	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	397	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TTCCTACTTACGGGGTTGGAG	0.632			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1189-1191)taC>taT		elastin	Rofecoxib(DB00533)						100.0	107.0	104.0					7																	73470641		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73470641C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1191C>T	7.37:g.73470641C>T						ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000320399.6_Silent_p.Y397Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000358929.4_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000380553.4_Silent_p.Y280Y	p.Y397Y	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			20	1590	+		Lung NSC(55;0.159)	397			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1191C>T	CCDS5562.2																																																																																				0.632	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		142	634	0	0	0	1	0	142	634				
TRAK1	22906	broad.mit.edu	37	3	42226281	42226281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42226281C>T	ENST00000327628.5	+	4	868	c.468C>T	c.(466-468)caC>caT	p.H156H	TRAK1_ENST00000396175.1_Silent_p.H98H|TRAK1_ENST00000449246.1_Silent_p.H82H|TRAK1_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	156	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGTGGAACACATCAGGGAGG	0.582																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(466-468)caC>caT		trafficking protein, kinesin binding 1							113.0	113.0	113.0					3																	42226281		2203	4300	6503	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42226281C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.468C>T	3.37:g.42226281C>T						TRAK1_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000449246.1_Silent_p.H82H|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.H98H	p.H156H	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			4	868	+			156			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.468C>T	CCDS43072.1																																																																																				0.582	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		21	699	0	0	0	1	0	21	699				
UBR4	23352	broad.mit.edu	37	1	19447793	19447793	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19447793C>A	ENST00000375254.3	-	68	10058	c.10031G>T	c.(10030-10032)aGt>aTt	p.S3344I	UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375267.2_Missense_Mutation_p.S3344I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3344	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAAGAAGCACTGGAGGATCC	0.557																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(10030-10032)aGt>aTt		ubiquitin protein ligase E3 component n-recognin 4							52.0	57.0	55.0					1																	19447793		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19447793C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10031G>T	1.37:g.19447793C>A	ENSP00000364403:p.Ser3344Ile					UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375254.3_Missense_Mutation_p.S3344I	p.S3344I			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	68	10034	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3344			Ser-rich.		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.10031G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124794	0.56613	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.25085	1.82;1.82;1.83;1.83	5.95	5.04	0.67666	.	1.898250	0.01993	N	0.045680	T	0.20251	0.0487	N	0.12182	0.205	0.29740	N	0.837165	B	0.20671	0.047	B	0.21360	0.034	T	0.16482	-1.0401	10	0.51188	T	0.08	.	9.5203	0.39131	0.0:0.781:0.1444:0.0746	.	3344	Q5T4S7	UBR4_HUMAN	I	3344;3344;3337;3320;952;2030	ENSP00000364403:S3344I;ENSP00000364416:S3344I;ENSP00000364365:S3337I;ENSP00000364374:S3320I	ENSP00000364365:S3337I	S	-	2	0	UBR4	19320380	0.904000	0.30761	0.063000	0.19743	0.938000	0.57974	3.191000	0.50981	1.511000	0.48818	0.655000	0.94253	AGT		0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		33	304	1	0	1.80694e-10	1	1.9163e-10	33	304				
SEMA4G	57715	broad.mit.edu	37	10	102743779	102743779	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743779A>G	ENST00000370250.4	+	14	2781	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S	MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.N808S|MRPL43_ENST00000299179.5_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	803					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGGCAGAGCAACAATGGAGTA	0.607																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2422-2424)aAc>aGc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							75.0	76.0	76.0					10																	102743779		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743779A>G	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2408A>G	10.37:g.102743779A>G	ENSP00000359270:p.Asn803Ser					RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.N803S|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A	p.N808S			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2501	+		Colorectal(252;0.234)	803					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.2423A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.08|14.08	2.427250|2.427250	0.43122|0.43122	.|.	.|.	ENSG00000095539|ENSG00000055950	ENST00000370250;ENST00000210633|ENST00000370242;ENST00000342071	T;T|.	0.18016|.	2.24;2.32|.	5.34|5.34	4.21|4.21	0.49690|0.49690	.|.	1.345510|.	0.04794|.	U|.	0.432238|.	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.08118|0.08118	0|0	0.33117|0.33117	D|D	0.54126|0.54126	B|B;B	0.06786|0.17465	0.001|0.022;0.007	B|B;B	0.11329|0.17433	0.006|0.018;0.004	T|T	0.31308|0.31308	-0.9948|-0.9948	10|8	0.37606|0.87932	T|D	0.19|0	-23.4012|-23.4012	10.1788|10.1788	0.42955|0.42955	0.9216:0.0:0.0784:0.0|0.9216:0.0:0.0784:0.0	.|.	808|173;173	Q9NTN9-2|B1AL06;C9J5Q3	.|.;.	S|A	803;808|173	ENSP00000359270:N803S;ENSP00000210633:N808S|.	ENSP00000210633:N808S|ENSP00000339844:V173A	N|V	+|-	2|2	0|0	SEMA4G|MRPL43	102733769|102733769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	5.817000|5.817000	0.69229|0.69229	0.886000|0.886000	0.36113|0.36113	0.449000|0.449000	0.29647|0.29647	AAC|GTT		0.607	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			105	481	0	0	0	1	0	105	481				
OR51T1	401665	broad.mit.edu	37	11	4903513	4903513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903513C>T	ENST00000322049.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.I155I|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTGGCTATCTGTAACCCAC	0.488																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(463-465)atC>atT		olfactory receptor, family 51, subfamily T, member 1							151.0	128.0	136.0					11																	4903513		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903513C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.384C>T	11.37:g.4903513C>T						MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.I128I|MMP26_ENST00000477339.1_Intron	p.I155I	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	465	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	128					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.465C>T																																																																																					0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		89	434	0	0	0	1	0	89	434				
GREB1	9687	broad.mit.edu	37	2	11733252	11733252	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11733252G>A	ENST00000381486.2	+	11	1996	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	GREB1_ENST00000234142.5_Splice_Site_p.G566R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	566						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCCGTCACCGGTGAGCTCTG	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.e11+1		growth regulation by estrogen in breast cancer 1							14.0	14.0	14.0					2																	11733252		2026	4152	6178	SO:0001630	splice_region_variant	9687					integral to membrane		g.chr2:11733252G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1696+1G>A	2.37:g.11733252G>A						GREB1_ENST00000234142.5_Splice_Site_p.G566_splice	p.G566_splice	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	11	1996	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		566					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Splice_Site	SNP	ENST00000381486.2	37	c.1696_splice	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475001	0.84640	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.61742	2.45;2.45;0.08	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80306	-0.1438	10	0.87932	D	0	.	18.3141	0.90213	0.0:0.0:1.0:0.0	.	200;566	C9JIG0;Q4ZG55	.;GREB1_HUMAN	R	566;566;200	ENSP00000370896:G566R;ENSP00000234142:G566R;ENSP00000403886:G200R	ENSP00000234142:G566R	G	+	1	0	GREB1	11650703	1.000000	0.71417	0.987000	0.45799	0.387000	0.30353	9.306000	0.96204	2.332000	0.79248	0.591000	0.81541	GGA		0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	Missense_Mutation	21	80	0	0	0	1	0	21	80				
SLC2A1	6513	broad.mit.edu	37	1	43395385	43395385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43395385C>T	ENST00000426263.3	-	6	924	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	249					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CATCATCTGCCGACTCTCTTC	0.627																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	GRCh37	CI056492	SLC2A1	I		c.(745-747)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						142.0	135.0	138.0					1																	43395385		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395385C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.746G>A	1.37:g.43395385C>T	ENSP00000416293:p.Arg249Gln					SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	p.R249Q	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			6	924	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	249					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.746G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808952	0.16537	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.73258	-0.73;-0.73	5.14	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054655	0.64402	D	0.000001	T	0.58736	0.2143	L	0.33137	0.985	0.80722	D	1	B	0.20988	0.05	B	0.14023	0.01	T	0.53005	-0.8499	10	0.27785	T	0.31	.	13.5086	0.61497	0.0:0.8422:0.1578:0.0	.	249	P11166	GTR1_HUMAN	Q	249;249;191;154	ENSP00000416293:R249Q;ENSP00000395521:R154Q	ENSP00000361579:R249Q	R	-	2	0	SLC2A1	43167972	1.000000	0.71417	0.991000	0.47740	0.333000	0.28666	2.614000	0.46359	1.152000	0.42452	-0.314000	0.08810	CGG		0.627	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		62	715	0	0	0	1	0	62	715				
USP33	23032	broad.mit.edu	37	1	78167123	78167123	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78167123C>A	ENST00000370793.1	-	23	2879	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	USP33_ENST00000370794.3_Missense_Mutation_p.A814S|USP33_ENST00000357428.1_Missense_Mutation_p.A845S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	845	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TAAAAAGTAGCTGGAGAGTCC	0.363																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(2533-2535)Gct>Tct		ubiquitin specific peptidase 33							115.0	125.0	122.0					1																	78167123		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78167123C>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2533G>T	1.37:g.78167123C>A	ENSP00000359829:p.Ala845Ser					USP33_ENST00000357428.1_Missense_Mutation_p.A845S|USP33_ENST00000370794.3_Missense_Mutation_p.A814S	p.A845S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			23	2879	-			845			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2533G>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	9.969	1.224830	0.22457	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.09163	3.02;3.01;3.01	4.94	0.829	0.18847	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.401148	0.26324	N	0.025032	T	0.00906	0.0030	N	0.03608	-0.345	0.38218	D	0.940662	B	0.14012	0.009	B	0.21360	0.034	T	0.45906	-0.9229	10	0.05351	T	0.99	.	5.2312	0.15422	0.2897:0.4901:0.0:0.2202	.	845	Q8TEY7	UBP33_HUMAN	S	814;845;845	ENSP00000359830:A814S;ENSP00000359829:A845S;ENSP00000350009:A845S	ENSP00000350009:A845S	A	-	1	0	USP33	77939711	0.983000	0.35010	0.995000	0.50966	0.987000	0.75469	1.599000	0.36751	-0.028000	0.13850	0.484000	0.47621	GCT		0.363	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		46	515	1	0	1.23713e-20	1	1.38774e-20	46	515				
PARP12	64761	broad.mit.edu	37	7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1591-1593)Cga>Tga		poly (ADP-ribose) polymerase family, member 12							97.0	88.0	91.0					7																	139727113		2203	4300	6503	SO:0001587	stop_gained	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139727113G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1591C>T	7.37:g.139727113G>A	ENSP00000263549:p.Arg531*						p.R531*	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			10	2464	-	Melanoma(164;0.0142)		531			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Nonsense_Mutation	SNP	ENST00000263549.3	37	c.1591C>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	47	13.537700	0.99748	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.6	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0693	0.59050	0.0:0.0:0.592:0.408	.	.	.	.	X	531	.	ENSP00000263549:R531X	R	-	1	2	PARP12	139373582	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.868000	0.39509	1.335000	0.45486	0.655000	0.94253	CGA		0.537	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		65	272	0	0	0	1	0	65	272				
BZRAP1	9256	broad.mit.edu	37	17	56387922	56387922	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56387922T>C	ENST00000343736.4	-	20	3813	c.3650A>G	c.(3649-3651)gAg>gGg	p.E1217G	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1157G|BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1217G			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1217						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGCACATCTCGGTATTTGG	0.647																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3649-3651)gAg>gGg		benzodiazapine receptor (peripheral) associated protein 1							42.0	48.0	46.0					17																	56387922		2202	4300	6502	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387922T>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3650A>G	17.37:g.56387922T>C	ENSP00000345824:p.Glu1217Gly					BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1157G|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1217G	p.E1217G	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			20	4520	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1217					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3650A>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417196	0.62511	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.88509	-2.39;-2.39;-2.39	5.71	5.71	0.89125	.	0.390780	0.29515	N	0.011935	D	0.87826	0.6275	L	0.55481	1.735	0.09310	N	1	B;P;P	0.40066	0.155;0.592;0.701	B;B;B	0.42959	0.096;0.403;0.388	T	0.83166	-0.0096	10	0.56958	D	0.05	.	12.3744	0.55271	0.0:0.0:0.0:1.0	.	1217;1157;1217	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	G	1217;1217;1157	ENSP00000347929:E1217G;ENSP00000345824:E1217G;ENSP00000268893:E1157G	ENSP00000268893:E1157G	E	-	2	0	BZRAP1	53742921	0.020000	0.18652	0.008000	0.14137	0.002000	0.02628	1.988000	0.40697	2.180000	0.69256	0.379000	0.24179	GAG		0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		69	351	0	0	0	1	0	69	351				
CCDC57	284001	broad.mit.edu	37	17	80159511	80159511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159511G>A	ENST00000389641.4	-	2	346	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CCDC57_ENST00000392347.1_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	104										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCTAGCGCCTGCCTCAGCTTA	0.662																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(310-312)Cag>Tag		coiled-coil domain containing 57							29.0	34.0	32.0					17																	80159511		2162	4265	6427	SO:0001587	stop_gained	284001							g.chr17:80159511G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.310C>T	17.37:g.80159511G>A	ENSP00000374292:p.Gln104*					CCDC57_ENST00000389641.4_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*	p.Q104*	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		2	346	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		104					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	ENST00000389641.4	37	c.310C>T		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843251	0.71488	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	.	.	.	5.48	5.48	0.80851	.	0.313756	0.30311	N	0.009909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-28.3715	16.8142	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000374292:Q104X	Q	-	1	0	CCDC57	77752800	0.820000	0.29190	0.850000	0.33497	0.182000	0.23217	2.169000	0.42434	2.563000	0.86464	0.650000	0.86243	CAG		0.662	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		27	269	0	0	0	1	0	27	269				
MAP4K2	5871	broad.mit.edu	37	11	64568445	64568445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64568445C>T	ENST00000294066.2	-	9	680	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGCCCAGACGTCACATAGC	0.637																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(589-591)Gtc>Atc		mitogen-activated protein kinase kinase kinase kinase 2							103.0	105.0	104.0					11																	64568445		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64568445C>T	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.589G>A	11.37:g.64568445C>T	ENSP00000294066:p.Val197Ile					MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I|MAP4K2_ENST00000468062.1_5'UTR	p.V197I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			9	680	-			197			Protein kinase.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.589G>A	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054915	0.08291	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.25579	1.79;1.79	4.66	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138774	0.47852	D	0.000205	T	0.07188	0.0182	N	0.01250	-0.93	0.38384	D	0.945219	B;B	0.31625	0.332;0.278	B;B	0.34652	0.091;0.187	T	0.32107	-0.9919	10	0.02654	T	1	.	7.3691	0.26792	0.0:0.7191:0.0:0.2808	.	197;197	Q86VU3;Q12851	.;M4K2_HUMAN	I	197	ENSP00000294066:V197I;ENSP00000366567:V197I	ENSP00000294066:V197I	V	-	1	0	MAP4K2	64325021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.214000	0.32419	0.513000	0.28278	0.456000	0.33151	GTC		0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		123	576	0	0	0	1	0	123	576				
PLXNC1	10154	broad.mit.edu	37	12	94673321	94673321	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94673321T>C	ENST00000258526.4	+	22	3920	c.3671T>C	c.(3670-3672)gTt>gCt	p.V1224A	PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V271A|RP11-1105G2.3_ENST00000547927.1_5'Flank|RP11-1105G2.4_ENST00000550111.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1224					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGTCAATGTTCTCGACTGT	0.408																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3670-3672)gTt>gCt		plexin C1							107.0	103.0	104.0					12																	94673321		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94673321T>C	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3671T>C	12.37:g.94673321T>C	ENSP00000258526:p.Val1224Ala					PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V271A|RP11-1105G2.3_ENST00000551941.1_Intron	p.V1224A	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			22	3920	+			1224					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3671T>C	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052600	0.55218	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.19105	2.17;2.17	5.28	5.28	0.74379	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055194	0.64402	D	0.000001	T	0.39358	0.1075	L	0.55103	1.725	0.80722	D	1	B;D	0.76494	0.311;0.999	B;D	0.87578	0.104;0.998	T	0.06320	-1.0833	10	0.22706	T	0.39	.	13.9286	0.63978	0.0:0.0:0.0:1.0	.	271;1224	B4DHQ7;O60486	.;PLXC1_HUMAN	A	1224;271	ENSP00000258526:V1224A;ENSP00000446720:V271A	ENSP00000258526:V1224A	V	+	2	0	PLXNC1	93197452	1.000000	0.71417	0.974000	0.42286	0.957000	0.61999	5.330000	0.65899	2.219000	0.72066	0.533000	0.62120	GTT		0.408	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			56	228	0	0	0	1	0	56	228				
MYO9A	4649	broad.mit.edu	37	15	72176078	72176078	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72176078C>T	ENST00000356056.5	-	28	5728		c.e28-1		MYO9A_ENST00000564571.1_Splice_Site|MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTCTGAGGTCTGTTTAAAGA	0.368																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.e28-1		myosin IXA							124.0	123.0	124.0					15																	72176078		2199	4297	6496	SO:0001630	splice_region_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72176078C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5256-1G>A	15.37:g.72176078C>T						MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site		NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			28	5728	-								B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Splice_Site	SNP	ENST00000356056.5	37		CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859482	0.71834	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0021	0.86384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO9A	69963132	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	6.736000	0.74811	2.061000	0.61500	0.557000	0.71058	.		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	Intron	51	237	0	0	0	1	0	51	237				
KCNJ11	3767	broad.mit.edu	37	11	17408543	17408543	+	Missense_Mutation	SNP	C	C	T	rs149141985		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408543C>T	ENST00000339994.4	-	1	1663	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.G279R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	366					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R365fs>24(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CGCAGGGGCCCGCGGGCTGAG	0.647											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4																			1	Deletion - Frameshift(1)	p.R365fs>24(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(1096-1098)Ggg>Agg		potassium inwardly-rectifying channel, subfamily J, member 11		C	ARG/GLY,ARG/GLY	0,4400		0,0,2200	61.0	62.0	61.0		1096,835	4.5	0.7	11	dbSNP_134	61	1,8585	2.2+/-6.3	0,1,4292	no	missense,missense	KCNJ11	NM_000525.3,NM_001166290.1	125,125	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	366/391,279/304	17408543	1,12985	2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408543C>T	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1096G>A	11.37:g.17408543C>T	ENSP00000345708:p.Gly366Arg		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.G279R	p.G366R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1663	-			279					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.1096G>A	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847502	0.32606	0.0	1.16E-4	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.87179	-2.22;-2.1	5.43	4.52	0.55395	.	0.728523	0.12595	N	0.455270	D	0.83312	0.5227	L	0.50333	1.59	0.22880	N	0.998612	P	0.48016	0.904	B	0.40825	0.341	T	0.75274	-0.3375	10	0.35671	T	0.21	.	11.8941	0.52646	0.0:0.9196:0.0:0.0804	.	366	B2RC52	.	R	366;279	ENSP00000345708:G366R;ENSP00000434755:G279R	ENSP00000345708:G366R	G	-	1	0	KCNJ11	17365119	0.891000	0.30450	0.655000	0.29622	0.747000	0.42532	2.403000	0.44530	2.548000	0.85928	0.561000	0.74099	GGG		0.647	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		11	440	0	0	0	1	0	11	440				
EIF5	1983	broad.mit.edu	37	14	103805668	103805668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103805668C>T	ENST00000216554.3	+	9	1580	c.904C>T	c.(904-906)Cga>Tga	p.R302*	EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*|EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	302	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CCATTTCCTACGAGTAAGCAA	0.393																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(904-906)Cga>Tga		eukaryotic translation initiation factor 5							63.0	68.0	67.0					14																	103805668		2203	4300	6503	SO:0001587	stop_gained	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103805668C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.904C>T	14.37:g.103805668C>T	ENSP00000216554:p.Arg302*					EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*|EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*	p.R302*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		9	1580	+		Melanoma(154;0.155)	302			W2.		Q53XB3|Q9H5N2|Q9UG48	Nonsense_Mutation	SNP	ENST00000216554.3	37	c.904C>T	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	42	9.308945	0.99132	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	.	.	.	5.39	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4976	13.3204	0.60430	0.3965:0.6035:0.0:0.0	.	.	.	.	X	302	.	ENSP00000216554:R302X	R	+	1	2	EIF5	102875421	0.999000	0.42202	0.856000	0.33681	0.561000	0.35649	1.540000	0.36115	0.160000	0.19432	0.460000	0.39030	CGA		0.393	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		60	352	0	0	0	1	0	60	352				
C1QC	714	broad.mit.edu	37	1	22973816	22973816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973816C>T	ENST00000374639.3	+	3	396	c.278C>T	c.(277-279)cCt>cTt	p.P93L	C1QC_ENST00000374640.4_Missense_Mutation_p.P93L|C1QC_ENST00000374637.1_Missense_Mutation_p.P93L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	93	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGACCCCCTGGGATGCCA	0.632																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(277-279)cCt>cTt		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						33.0	39.0	37.0					1																	22973816		2203	4300	6503	SO:0001583	missense	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973816C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.278C>T	1.37:g.22973816C>T	ENSP00000363770:p.Pro93Leu					C1QC_ENST00000374640.4_Missense_Mutation_p.P93L|C1QC_ENST00000374637.1_Missense_Mutation_p.P93L	p.P93L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	396	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	93			Collagen-like.		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	c.278C>T	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	5.744	0.321665	0.10845	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.96885	-4.16;-4.16;-4.16	4.94	4.02	0.46733	.	1.052530	0.07347	N	0.881735	D	0.93946	0.8062	L	0.54965	1.715	0.09310	N	1	B	0.18310	0.027	B	0.14578	0.011	D	0.85010	0.0905	10	0.29301	T	0.29	.	8.0291	0.30454	0.0:0.8176:0.0:0.1824	.	93	P02747	C1QC_HUMAN	L	93	ENSP00000363771:P93L;ENSP00000363770:P93L;ENSP00000363768:P93L	ENSP00000363768:P93L	P	+	2	0	C1QC	22846403	0.000000	0.05858	0.038000	0.18304	0.490000	0.33462	1.274000	0.33132	2.280000	0.76307	0.561000	0.74099	CCT		0.632	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		27	301	0	0	0	1	0	27	301				
DCHS1	8642	broad.mit.edu	37	11	6662109	6662109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6662109G>T	ENST00000299441.3	-	2	1147	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATGTCCAGCAGTGTCACG	0.607																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(736-738)Ctg>Atg		dachsous cadherin-related 1							105.0	105.0	105.0					11																	6662109		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662109G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.736C>A	11.37:g.6662109G>T	ENSP00000299441:p.Leu246Met						p.L246M	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1147	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	246			Cadherin 2.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.736C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479284	0.44044	.	.	ENSG00000166341	ENST00000299441	T	0.43688	0.94	4.71	3.73	0.42828	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.218597	0.23340	N	0.049245	T	0.67287	0.2877	M	0.87381	2.88	0.28461	N	0.915875	D	0.76494	0.999	D	0.87578	0.998	T	0.63559	-0.6610	10	0.45353	T	0.12	.	14.5287	0.67909	0.0:0.1468:0.8532:0.0	.	246	Q96JQ0	PCD16_HUMAN	M	246	ENSP00000299441:L246M	ENSP00000299441:L246M	L	-	1	2	DCHS1	6618685	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.325000	0.52030	2.312000	0.78011	0.544000	0.68410	CTG		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		40	576	1	0	1.07121e-22	1	1.21384e-22	40	576				
P2RX6	9127	broad.mit.edu	37	22	21380774	21380774	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21380774A>G	ENST00000413302.2	+	12	1342	c.1194A>G	c.(1192-1194)cgA>cgG	p.R398R	P2RX6_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000443995.3_Silent_p.R345R|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.R372R			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	398					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CCCAAGCCCGACTGGCCGAGT	0.632																																						ENST00000413302.2																			0											c.(1192-1194)cgA>cgG		purinergic receptor P2X, ligand-gated ion channel, 6							50.0	44.0	46.0					22																	21380774		2203	4292	6495	SO:0001819	synonymous_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380774A>G		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1194A>G	22.37:g.21380774A>G						P2RX6_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.R372R|P2RX6_ENST00000443995.3_Silent_p.R345R	p.R398R			O15547	P2RX6_HUMAN			12	1342	+			398					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	ENST00000413302.2	37	c.1194A>G	CCDS13788.2																																																																																				0.632	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		10	38	0	0	0	1	0	10	38				
CDC5L	988	broad.mit.edu	37	6	44371706	44371706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44371706G>A	ENST00000371477.3	+	6	999	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	234	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAACTACCAAGCTCTTGACGC	0.383																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(700-702)Gct>Act		cell division cycle 5-like							68.0	72.0	70.0					6																	44371706		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371706G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.700G>A	6.37:g.44371706G>A	ENSP00000360532:p.Ala234Thr						p.A234T	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	999	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		234					Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.700G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	9.344	1.063710	0.20067	.	.	ENSG00000096401	ENST00000371477	T	0.42513	0.97	6.04	2.18	0.27775	.	0.513757	0.22903	N	0.054234	T	0.09024	0.0223	L	0.31752	0.955	0.27819	N	0.941867	B	0.02656	0.0	B	0.04013	0.001	T	0.37079	-0.9721	10	0.14656	T	0.56	-2.4246	5.9318	0.19142	0.1846:0.0:0.4174:0.398	.	234	Q99459	CDC5L_HUMAN	T	234	ENSP00000360532:A234T	ENSP00000360532:A234T	A	+	1	0	CDC5L	44479684	0.448000	0.25681	0.998000	0.56505	0.799000	0.45148	-0.073000	0.11468	0.110000	0.17919	0.563000	0.77884	GCT		0.383	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			89	365	0	0	0	1	0	89	365				
CR2	1380	broad.mit.edu	37	1	207643379	207643379	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643379A>G	ENST00000367058.3	+	6	1346	c.1157A>G	c.(1156-1158)aAg>aGg	p.K386R	CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367059.3_Missense_Mutation_p.K386R|CR2_ENST00000367057.3_Missense_Mutation_p.K386R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	386	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCACCTTGAAGGGCAGCAAG	0.493																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(1156-1158)aAg>aGg		complement component (3d/Epstein Barr virus) receptor 2							101.0	90.0	93.0					1																	207643379		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643379A>G	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1157A>G	1.37:g.207643379A>G	ENSP00000356025:p.Lys386Arg					CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367058.3_Missense_Mutation_p.K386R|CR2_ENST00000367059.3_Missense_Mutation_p.K386R	p.K386R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			6	1346	+			386			Sushi 6.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1157A>G	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.051888	0.55218	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.09	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52191	0.1719	L	0.33339	1.005	0.44359	D	0.997251	P;P;B	0.45634	0.863;0.522;0.296	P;B;B	0.45712	0.491;0.38;0.259	T	0.45775	-0.9238	9	0.11794	T	0.64	.	11.8312	0.52297	1.0:0.0:0.0:0.0	.	386;386;386	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	386	ENSP00000356025:K386R;ENSP00000356024:K386R;ENSP00000356026:K386R;ENSP00000404222:K386R	ENSP00000356024:K386R	K	+	2	0	CR2	205710002	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	1.476000	0.35420	2.225000	0.72522	0.459000	0.35465	AAG		0.493	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		80	239	0	0	0	1	0	80	239				
CEL	1056	broad.mit.edu	37	9	135942552	135942552	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135942552C>T	ENST00000372080.4	+	7	880	c.864C>T	c.(862-864)gcC>gcT	p.A288A	CEL_ENST00000351304.7_Silent_p.A285A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	285				RALTL -> AAVTV (in Ref. 5; AAB35488). {ECO:0000305}.	cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCCCCGAGCCCTGACGCTGG	0.652																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(862-864)gcC>gcT		carboxyl ester lipase							35.0	39.0	37.0					9																	135942552		2075	4201	6276	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135942552C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.864C>T	9.37:g.135942552C>T						CEL_ENST00000351304.7_Silent_p.A285A	p.A288A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	7	880	+			285	RALTL -> AAVTV (in Ref. 5; AAB35488).				Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.864C>T	CCDS43896.1																																																																																				0.652	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			14	158	0	0	0	1	0	14	158				
RXFP3	51289	broad.mit.edu	37	5	33937494	33937494	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33937494C>T	ENST00000330120.3	+	1	1004	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	217					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						GGCCAAGGCGCTGTGTGTGTG	0.692																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(649-651)Ctg>Ttg		relaxin/insulin-like family peptide receptor 3							29.0	30.0	30.0					5																	33937494		2202	4300	6502	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937494C>T	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.649C>T	5.37:g.33937494C>T							p.L217L	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1004	+			217					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.649C>T	CCDS3900.1																																																																																				0.692	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		36	185	0	0	0	1	0	36	185				
ATRNL1	26033	broad.mit.edu	37	10	117024714	117024714	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117024714G>T	ENST00000355044.3	+	11	1858	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	578					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTCATAGAGATGTCAACAG	0.313																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1732-1734)Gat>Tat		attractin-like 1							114.0	118.0	117.0					10																	117024714		2203	4297	6500	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117024714G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1732G>T	10.37:g.117024714G>T	ENSP00000347152:p.Asp578Tyr						p.D578Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	11	1858	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	578					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1732G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123123	0.77436	.	.	ENSG00000107518	ENST00000355044	T	0.15139	2.45	4.69	4.69	0.59074	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57528	-0.7796	10	0.72032	D	0.01	-26.3301	17.974	0.89121	0.0:0.0:1.0:0.0	.	578	Q5VV63	ATRN1_HUMAN	Y	578	ENSP00000347152:D578Y	ENSP00000347152:D578Y	D	+	1	0	ATRNL1	117014704	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.198000	0.94994	2.307000	0.77673	0.561000	0.74099	GAT		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		81	315	1	0	5.88579e-26	1	6.76971e-26	81	315				
TRIM32	22954	broad.mit.edu	37	9	119461183	119461183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461183G>A	ENST00000450136.1	+	2	1323	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	388					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTACTAGTCGCTGACCGTGG	0.493																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1162-1164)Gct>Act		tripartite motif containing 32							79.0	80.0	80.0					9																	119461183		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461183G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1162G>A	9.37:g.119461183G>A	ENSP00000408292:p.Ala388Thr					TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	p.A388T	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1323	+			388					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1162G>A	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076522	0.76415	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.75154	-0.91;-0.91	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81829	-0.0753	9	.	.	.	-10.9153	19.0043	0.92844	0.0:0.0:1.0:0.0	.	388	Q13049	TRI32_HUMAN	T	388	ENSP00000408292:A388T;ENSP00000363095:A388T	.	A	+	1	0	TRIM32	118501004	1.000000	0.71417	0.993000	0.49108	0.840000	0.47671	9.434000	0.97515	2.481000	0.83766	0.650000	0.86243	GCT		0.493	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		110	480	0	0	0	1	0	110	480				
SCYL2	55681	broad.mit.edu	37	12	100723037	100723037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100723037C>T	ENST00000360820.2	+	13	2138	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	567					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGCAGCTGGCCGGAAAAGTGT	0.328																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1699-1701)gcC>gcT		SCY1-like 2 (S. cerevisiae)							78.0	84.0	82.0					12																	100723037		2203	4299	6502	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100723037C>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1701C>T	12.37:g.100723037C>T							p.A567A	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			13	2138	+			567					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1701C>T	CCDS9076.1																																																																																				0.328	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		65	294	0	0	0	1	0	65	294				
ELF1	1997	broad.mit.edu	37	13	41507949	41507949	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41507949G>A	ENST00000239882.3	-	9	1786	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	491					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A491V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AGGAGAGCCCGCCTTTTGTGA	0.483																																						ENST00000239882.3																			1	Substitution - Missense(1)	p.A491V(1)	large_intestine(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1471-1473)gCg>gTg		E74-like factor 1 (ets domain transcription factor)							127.0	135.0	132.0					13																	41507949		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41507949G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1472C>T	13.37:g.41507949G>A	ENSP00000239882:p.Ala491Val					ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	p.A491V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	9	1786	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	491					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1472C>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791692	0.16258	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.42513	0.97;0.97	5.21	3.41	0.39046	.	0.334193	0.29205	N	0.012837	T	0.21921	0.0528	N	0.08118	0	0.22796	N	0.998728	B;B	0.23185	0.001;0.081	B;B	0.14578	0.002;0.011	T	0.12091	-1.0561	10	0.15066	T	0.55	.	13.9678	0.64221	0.0:0.0:0.7228:0.2772	.	467;491	E9PDQ9;P32519	.;ELF1_HUMAN	V	467;233;491	ENSP00000405580:A467V;ENSP00000239882:A491V	ENSP00000239882:A491V	A	-	2	0	ELF1	40405949	1.000000	0.71417	0.663000	0.29738	0.306000	0.27790	3.759000	0.55227	0.530000	0.28619	0.591000	0.81541	GCG		0.483	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		24	617	0	0	0	1	0	24	617				
NYNRIN	57523	broad.mit.edu	37	14	24885464	24885464	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24885464C>T	ENST00000382554.3	+	9	4827	c.4509C>T	c.(4507-4509)ggC>ggT	p.G1503G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1503					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACTGTCTGGCTCCTCACCGT	0.552																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4507-4509)ggC>ggT		NYN domain and retroviral integrase containing							38.0	41.0	40.0					14																	24885464		2009	4170	6179	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885464C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4509C>T	14.37:g.24885464C>T							p.G1503G	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	4827	+			1503					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.4509C>T	CCDS45090.1																																																																																				0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			29	136	0	0	0	1	0	29	136				
SLC22A3	6581	broad.mit.edu	37	6	160858179	160858179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858179C>T	ENST00000275300.2	+	7	1376	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	SLC22A3_ENST00000392145.1_Silent_p.L408L	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	408					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GACGACGCCTCCCCTTTGCGG	0.522																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1222-1224)ctC>ctT		solute carrier family 22 (organic cation transporter), member 3							148.0	153.0	151.0					6																	160858179		2203	4300	6503	SO:0001819	synonymous_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160858179C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1224C>T	6.37:g.160858179C>T						SLC22A3_ENST00000275300.2_Silent_p.L408L	p.L408L			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	7	1251	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	408					Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	c.1224C>T	CCDS5277.1																																																																																				0.522	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		184	788	0	0	0	1	0	184	788				
HELLS	3070	broad.mit.edu	37	10	96351995	96351995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96351995G>T	ENST00000348459.5	+	16	1882	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCGATGAAGAATTGGTAAC	0.343																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1777-1779)Gaa>Taa		helicase, lymphoid-specific							52.0	57.0	56.0					10																	96351995		2202	4299	6501	SO:0001587	stop_gained	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96351995G>T	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1777G>T	10.37:g.96351995G>T	ENSP00000239027:p.Glu593*					HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*|RP11-119K6.6_ENST00000432120.1_RNA	p.E593*	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	16	1882	+		Colorectal(252;0.0429)	593						Nonsense_Mutation	SNP	ENST00000348459.5	37	c.1777G>T	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127452	0.94473	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	.	.	.	5.45	5.45	0.79879	.	0.160191	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.9214	18.2637	0.90044	0.0:0.0:1.0:0.0	.	.	.	.	X	593;495;639;30	.	ENSP00000239027:E593X	E	+	1	0	HELLS	96341985	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	3.534000	0.53568	2.550000	0.86006	0.563000	0.77884	GAA		0.343	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		45	202	1	0	8.48111e-28	1	9.83746e-28	45	202				
PHACTR2	9749	broad.mit.edu	37	6	144086912	144086912	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086912T>C	ENST00000427704.2	+	6	1306	c.1176T>C	c.(1174-1176)agT>agC	p.S392S	PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000440869.2_Silent_p.S403S|PHACTR2_ENST00000367582.3_Silent_p.S323S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	392							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGGCTTAAGTGTTAACAGAG	0.458																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1174-1176)agT>agC		phosphatase and actin regulator 2							73.0	69.0	70.0					6																	144086912		1881	4105	5986	SO:0001819	synonymous_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086912T>C	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1176T>C	6.37:g.144086912T>C						PHACTR2_ENST00000367582.3_Silent_p.S323S|PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000440869.2_Silent_p.S403S	p.S392S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1306	+			392					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	c.1176T>C	CCDS47492.1																																																																																				0.458	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		88	391	0	0	0	1	0	88	391				
ANKIB1	54467	broad.mit.edu	37	7	92027950	92027950	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027950C>A	ENST00000265742.3	+	20	3333	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	986							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAGTATTGCCCTGATTCCT	0.498																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2956-2958)gCc>gAc		ankyrin repeat and IBR domain containing 1							102.0	99.0	100.0					7																	92027950		1980	4167	6147	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027950C>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2957C>A	7.37:g.92027950C>A	ENSP00000265742:p.Ala986Asp						p.A986D	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3333	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		986					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2957C>A	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388527	0.61956	.	.	ENSG00000001629	ENST00000265742	T	0.14640	2.49	5.35	4.47	0.54385	.	0.165804	0.56097	D	0.000036	T	0.19765	0.0475	L	0.29908	0.895	0.58432	D	0.999996	D;B	0.67145	0.996;0.177	P;B	0.54759	0.76;0.1	T	0.01675	-1.1298	10	0.87932	D	0	.	14.479	0.67567	0.0:0.9296:0.0:0.0704	.	338;986	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	D	986	ENSP00000265742:A986D	ENSP00000265742:A986D	A	+	2	0	ANKIB1	91865886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.581000	0.67471	1.627000	0.50400	0.655000	0.94253	GCC		0.498	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			96	385	1	0	9.6635e-32	1	1.13884e-31	96	385				
LRIT2	340745	broad.mit.edu	37	10	85984832	85984832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85984832G>A	ENST00000372113.4	-	2	154	c.149C>T	c.(148-150)cCt>cTt	p.P50L	LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	LRRNT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAGGTTCCCAGGGATCTTTCC	0.453																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(148-150)cCt>cTt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							62.0	68.0	66.0					10																	85984832		2174	4290	6464	SO:0001583	missense	340745					integral to membrane		g.chr10:85984832G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.149C>T	10.37:g.85984832G>A	ENSP00000361185:p.Pro50Leu					LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	p.P50L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			2	154	-			50			LRRNT.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.149C>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977243	0.34848	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.60920	0.15;0.15	5.71	2.51	0.30379	Leucine-rich repeat-containing N-terminal (1);	0.121035	0.56097	D	0.000024	T	0.50905	0.1643	M	0.64567	1.98	0.80722	D	1	P;P	0.47962	0.903;0.903	B;B	0.41236	0.351;0.351	T	0.51585	-0.8687	10	0.59425	D	0.04	.	8.0511	0.30579	0.118:0.0:0.7202:0.1618	.	50;50	B7ZME6;A6NDA9	.;LRIT2_HUMAN	L	50	ENSP00000361185:P50L;ENSP00000438264:P50L	ENSP00000361185:P50L	P	-	2	0	LRIT2	85974812	1.000000	0.71417	0.563000	0.28383	0.537000	0.34900	5.317000	0.65822	0.603000	0.29913	0.585000	0.79938	CCT		0.453	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		64	338	0	0	0	1	0	64	338				
WNT3	7473	broad.mit.edu	37	17	44845788	44845788	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44845788C>T	ENST00000225512.5	-	4	1128	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	322					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTTCTCCGTCCTCGTGTTGT	0.582																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(964-966)agG>agA		wingless-type MMTV integration site family, member 3							135.0	117.0	123.0					17																	44845788		2203	4300	6503	SO:0001819	synonymous_variant	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44845788C>T	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.966G>A	17.37:g.44845788C>T							p.R322R	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1128	-			322					Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	c.966G>A	CCDS11505.1																																																																																				0.582	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		148	572	0	0	0	1	0	148	572				
ZEB2	9839	broad.mit.edu	37	2	145156911	145156911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145156911G>A	ENST00000558170.2	-	8	3027	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	615					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCATGAGGCTGCAGGACCGCC	0.443																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107	GRCh37	CM072129	ZEB2	M		c.(1843-1845)Cag>Tag		zinc finger E-box binding homeobox 2							97.0	98.0	98.0					2																	145156911		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156911G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1843C>T	2.37:g.145156911G>A	ENSP00000454157:p.Gln615*					ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*	p.Q615*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3027	-			615					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.1843C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082755	0.94050	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	.	.	.	5.75	5.75	0.90469	.	0.048076	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.9462	19.9507	0.97198	0.0:0.0:1.0:0.0	.	.	.	.	X	591;615;615;615	.	ENSP00000302501:Q615X	Q	-	1	0	ZEB2	144873381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.872000	0.87187	2.705000	0.92388	0.655000	0.94253	CAG		0.443	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		117	243	0	0	0	1	0	117	243				
SMARCC2	6601	broad.mit.edu	37	12	56558242	56558242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558242G>A	ENST00000267064.4	-	27	3499	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	SMARCC2_ENST00000550164.1_Missense_Mutation_p.S1169F|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1138	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCGCCATGGACACAGGCAG	0.637																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3505-3507)tCc>tTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							76.0	70.0	72.0					12																	56558242		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558242G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3413C>T	12.37:g.56558242G>A	ENSP00000267064:p.Ser1138Phe					SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S1138F	p.S1169F			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3520	-			1138			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3506C>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197876	0.58126	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.47528	0.84;0.84	5.28	5.28	0.74379	.	0.000000	0.46758	D	0.000278	T	0.47820	0.1466	N	0.08118	0	0.36275	D	0.85539	D	0.55605	0.972	D	0.69142	0.962	T	0.55127	-0.8189	9	.	.	.	-11.0486	16.7715	0.85538	0.0:0.0:1.0:0.0	.	1138	Q8TAQ2	SMRC2_HUMAN	F	1169;1138	ENSP00000449396:S1169F;ENSP00000267064:S1138F	.	S	-	2	0	SMARCC2	54844509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.109000	0.50345	2.639000	0.89480	0.563000	0.77884	TCC		0.637	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			127	505	0	0	0	1	0	127	505				
PKD1L1	168507	broad.mit.edu	37	7	47886656	47886656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47886656G>A	ENST00000289672.2	-	32	5024	c.4974C>T	c.(4972-4974)ggC>ggT	p.G1658G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1658					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G1658G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGATAAATAGCCTACACTGG	0.393																																						ENST00000289672.2																		BBS9/PKD1L1(2)	1	Substitution - coding silent(1)	p.G1658G(1)	endometrium(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4972-4974)ggC>ggT		polycystic kidney disease 1 like 1							69.0	66.0	67.0					7																	47886656		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47886656G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4974C>T	7.37:g.47886656G>A							p.G1658G	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			32	5024	-			1658					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.4974C>T	CCDS34633.1																																																																																				0.393	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		44	129	0	0	0	1	0	44	129				
FHDC1	85462	broad.mit.edu	37	4	153896509	153896509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153896509G>A	ENST00000511601.1	+	12	2254	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	689									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGTTCCCAGGGCATGGAGGAG	0.622																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2065-2067)gGc>gAc		FH2 domain containing 1							44.0	46.0	45.0					4																	153896509		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153896509G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2066G>A	4.37:g.153896509G>A	ENSP00000427567:p.Gly689Asp					FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D	p.G689D			Q9C0D6	FHDC1_HUMAN			12	2254	+	all_hematologic(180;0.093)		689						Missense_Mutation	SNP	ENST00000511601.1	37	c.2066G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	0.794	-0.757818	0.03019	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.28069	1.63;1.63	5.29	-1.51	0.08664	.	2.486670	0.01025	N	0.004050	T	0.14960	0.0361	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.13108	T	0.6	.	2.6246	0.04926	0.1748:0.4201:0.1915:0.2136	.	689	Q9C0D6	FHDC1_HUMAN	D	689	ENSP00000427567:G689D;ENSP00000260008:G689D	ENSP00000260008:G689D	G	+	2	0	FHDC1	154115959	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.184000	0.09698	-0.619000	0.05648	-1.098000	0.02139	GGC		0.622	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		61	289	0	0	0	1	0	61	289				
IRF6	3664	broad.mit.edu	37	1	209963840	209963840	+	Splice_Site	SNP	C	C	T	rs200808685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963840C>T	ENST00000367021.3	-	7	1232	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	IRF6_ENST00000542854.1_Splice_Site_p.D259N|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	354					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AATGACTTACCGCTAAGGAAT	0.473										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.e7+1		interferon regulatory factor 6		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	67.0	62.0	64.0		775,1060	5.8	1.0	1		64	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice,missense-near-splice	IRF6	NM_001206696.1,NM_006147.3	23,23	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	259/373,354/468	209963840	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963840C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1060+1G>A	1.37:g.209963840C>T		HNSCC(57;0.16)				IRF6_ENST00000542854.1_Splice_Site_p.D259_splice	p.D354_splice	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1232	-			354					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	SNP	ENST00000367021.3	37	c.1060_splice	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922566	0.52653	0.0	4.65E-4	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94966	-3.57;-3.57	5.75	5.75	0.90469	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.407669	0.31461	N	0.007618	D	0.90943	0.7153	L	0.35542	1.07	0.58432	D	0.999995	B	0.31910	0.346	B	0.29663	0.105	D	0.88126	0.2835	9	.	.	.	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	354	O14896	IRF6_HUMAN	N	354;259	ENSP00000355988:D354N;ENSP00000440532:D259N	.	D	-	1	0	IRF6	208030463	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	7.311000	0.78958	2.716000	0.92895	0.655000	0.94253	GAT		0.473	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Missense_Mutation	68	215	0	0	0	1	0	68	215				
TPM2	7169	broad.mit.edu	37	9	35685748	35685748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685748G>A	ENST00000360958.2	-	3	374	c.270C>T	c.(268-270)cgC>cgT	p.R90R	TPM2_ENST00000378292.3_Silent_p.R90R|TPM2_ENST00000378300.5_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	90					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGAATGCGGCGGTTCAGGG	0.622																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(268-270)cgC>cgT		tropomyosin 2 (beta)							44.0	46.0	46.0					9																	35685748		2203	4300	6503	SO:0001819	synonymous_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35685748G>A		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.270C>T	9.37:g.35685748G>A						TPM2_ENST00000378300.5_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R|TPM2_ENST00000360958.2_Silent_p.R90R	p.R90R	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	1472	-	all_epithelial(49;0.121)		90					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Silent	SNP	ENST00000360958.2	37	c.270C>T	CCDS6587.1																																																																																				0.622	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		77	367	0	0	0	1	0	77	367				
ENTPD8	377841	broad.mit.edu	37	9	140328493	140328493	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140328493G>A	ENST00000472938.1	-	0	1749				NOXA1_ENST00000392815.2_Missense_Mutation_p.G363D|NOXA1_ENST00000341349.2_Missense_Mutation_p.G419D			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GAGGACCTGGGCTTCCGACAG	0.701																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(1255-1257)gGc>gAc		NADPH oxidase activator 1							15.0	18.0	17.0					9																	140328493		2166	4276	6442	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140328493G>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140328493G>A						NOXA1_ENST00000392815.2_Missense_Mutation_p.G363D	p.G419D	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	13	1436	+	all_cancers(76;0.0926)		419		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).	SH3.		A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.1256G>A	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.357746	0.00214	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	T;T	0.46451	0.87;0.87	4.22	-0.148	0.13424	Src homology-3 domain (4);	0.495722	0.19930	N	0.102897	T	0.19967	0.0480	N	0.16201	0.385	0.19575	N	0.999963	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.003	T	0.19128	-1.0315	10	0.19147	T	0.46	.	6.4852	0.22085	0.3799:0.5193:0.1007:0.0	.	363;419;419	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	D	419;363	ENSP00000342848:G419D;ENSP00000376562:G363D	ENSP00000342848:G419D	G	+	2	0	NOXA1	139448314	0.000000	0.05858	0.114000	0.21550	0.049000	0.14656	-0.063000	0.11655	-0.250000	0.09555	-0.658000	0.03865	GGC		0.701	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		6	40	0	0	0	1	0	6	40				
DCT	1638	broad.mit.edu	37	13	95092163	95092163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95092163C>A	ENST00000377028.5	-	8	1962	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	517					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TAGGCTTCTTCTGTGTATCTC	0.438																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(1549-1551)Gaa>Taa		dopachrome tautomerase							127.0	126.0	126.0					13																	95092163		2203	4300	6503	SO:0001587	stop_gained	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95092163C>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1549G>T	13.37:g.95092163C>A	ENSP00000366227:p.Glu517*					DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	p.E517*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	8	1962	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	517					Q09GT4	Nonsense_Mutation	SNP	ENST00000377028.5	37	c.1549G>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	40	7.959632	0.98583	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	4.88	4.02	0.46733	.	0.109699	0.64402	D	0.000014	.	.	.	.	.	.	0.46631	D	0.999132	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.7436	13.6736	0.62440	0.0:0.8104:0.1896:0.0	.	.	.	.	X	517;550	.	ENSP00000366227:E517X	E	-	1	0	DCT	93890164	0.998000	0.40836	0.089000	0.20774	0.806000	0.45545	4.052000	0.57420	1.093000	0.41377	0.563000	0.77884	GAA		0.438	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			64	364	1	0	5.39075e-54	1	6.72428e-54	64	364				
USP5	8078	broad.mit.edu	37	12	6970734	6970734	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6970734C>T	ENST00000229268.8	+	13	1678	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Silent_p.V542V	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	542	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTGAGCAGGTCGATGACTTCT	0.622																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1624-1626)gtC>gtT		ubiquitin specific peptidase 5 (isopeptidase T)							49.0	51.0	50.0					12																	6970734		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970734C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1626C>T	12.37:g.6970734C>T						USP5_ENST00000389231.5_Silent_p.V542V|USP5_ENST00000541969.1_3'UTR	p.V542V	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			13	1678	+			542					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.1626C>T	CCDS41743.1																																																																																				0.622	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			42	348	0	0	0	1	0	42	348				
NLRP2	55655	broad.mit.edu	37	19	55494232	55494232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55494232C>T	ENST00000543010.1	+	6	1309	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V|NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	389	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGCAACGCGGCCCTGTTC	0.632																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1165-1167)gCg>gTg		NLR family, pyrin domain containing 2							29.0	29.0	29.0					19																	55494232		2203	4298	6501	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494232C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1166C>T	19.37:g.55494232C>T	ENSP00000445135:p.Ala389Val					NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V|NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V	p.A389V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1309	+			389			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1166C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095492	0.36952	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74209	-0.77;-0.71;-0.71;-0.77;-0.71;-0.82;-0.71;-0.77	1.64	-0.74	0.11115	NACHT nucleoside triphosphatase (1);	0.883995	0.09194	N	0.835623	T	0.76983	0.4064	L	0.58101	1.795	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	P;D;D;P;P	0.64410	0.892;0.925;0.91;0.885;0.862	T	0.62704	-0.6798	10	0.56958	D	0.05	.	0.7271	0.00951	0.2404:0.3548:0.2375:0.1672	.	366;367;386;365;389	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	389;365;367;389;367;366;365;386	ENSP00000445135:A389V;ENSP00000375601:A365V;ENSP00000344074:A367V;ENSP00000409370:A389V;ENSP00000440601:A367V;ENSP00000402474:A366V;ENSP00000441133:A365V;ENSP00000263437:A386V	ENSP00000263437:A386V	A	+	2	0	NLRP2	60186044	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.538000	0.23160	-0.102000	0.12197	-0.265000	0.10407	GCG		0.632	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		57	228	0	0	0	1	0	57	228				
STRIP2	57464	broad.mit.edu	37	7	129096370	129096370	+	Missense_Mutation	SNP	C	C	A	rs139485685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129096370C>A	ENST00000249344.2	+	9	965	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	STRIP2_ENST00000435494.2_Missense_Mutation_p.Q309K	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	309					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AGACAGTATCCAGGTGGTGAA	0.587																																						ENST00000249344.2																			0											c.(925-927)Cag>Aag		striatin interacting protein 2							97.0	90.0	93.0					7																	129096370		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129096370C>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.925C>A	7.37:g.129096370C>A	ENSP00000249344:p.Gln309Lys					STRIP2_ENST00000435494.2_Missense_Mutation_p.Q309K	p.Q309K	NM_020704.2	NP_065755.1					9	965	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.925C>A	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	5.417	0.262103	0.10239	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.41400	1.0;1.0	5.8	5.8	0.92144	.	0.175585	0.50627	D	0.000112	T	0.25901	0.0631	N	0.10664	0.02	0.38957	D	0.95847	B;B	0.06786	0.001;0.001	B;B	0.11329	0.004;0.006	T	0.13899	-1.0492	10	0.13108	T	0.6	-23.293	18.6318	0.91363	0.0:1.0:0.0:0.0	.	309;309	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	K	309	ENSP00000249344:Q309K;ENSP00000392393:Q309K	ENSP00000249344:Q309K	Q	+	1	0	FAM40B	128883606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.945000	0.49043	2.758000	0.94735	0.561000	0.74099	CAG		0.587	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		73	443	1	0	1.63007e-36	1	1.95181e-36	73	443				
XRRA1	143570	broad.mit.edu	37	11	74617337	74617337	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74617337T>A	ENST00000340360.6	-	10	1257	c.926A>T	c.(925-927)gAt>gTt	p.D309V	XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V|XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|RP11-147I3.1_ENST00000533875.1_RNA	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGTTGCTCATCTGAGTCCTC	0.498																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(925-927)gAt>gTt		X-ray radiation resistance associated 1							124.0	122.0	122.0					11																	74617337		1955	4142	6097	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74617337T>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.926A>T	11.37:g.74617337T>A	ENSP00000339918:p.Asp309Val					XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V	p.D309V	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			10	1257	-			309						Missense_Mutation	SNP	ENST00000340360.6	37	c.926A>T	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105787	0.77096	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.51817	0.69;1.45;0.71	5.56	5.56	0.83823	.	0.671525	0.14183	N	0.335896	T	0.47820	0.1466	L	0.53249	1.67	0.31762	N	0.633189	P;P;P;P	0.50617	0.8;0.514;0.852;0.937	B;B;B;P	0.44394	0.143;0.284;0.354;0.448	T	0.58498	-0.7626	10	0.46703	T	0.11	-1.0607	12.1158	0.53863	0.0:0.0:0.0:1.0	.	309;76;309;309	Q6P2D8;E9PL06;Q6P2D8-2;Q6P2D8-4	XRRA1_HUMAN;.;.;.	V	309;76;309;309;309	ENSP00000339918:D309V;ENSP00000319303:D76V;ENSP00000435838:D309V	ENSP00000319303:D76V	D	-	2	0	XRRA1	74294985	0.093000	0.21703	0.090000	0.20809	0.234000	0.25298	3.565000	0.53798	2.125000	0.65367	0.533000	0.62120	GAT		0.498	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		45	218	0	0	0	1	0	45	218				
WDFY3	23001	broad.mit.edu	37	4	85600086	85600086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85600086C>T	ENST00000295888.4	-	65	10540	c.10133G>A	c.(10132-10134)aGc>aAc	p.S3378N	WDFY3_ENST00000322366.6_Missense_Mutation_p.S3361N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3378	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTCAATCTGCTGTAATTCCG	0.517																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(10081-10083)aGc>aAc		WD repeat and FYVE domain containing 3							68.0	76.0	73.0					4																	85600086		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85600086C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10133G>A	4.37:g.85600086C>T	ENSP00000295888:p.Ser3378Asn					WDFY3_ENST00000295888.4_Missense_Mutation_p.S3378N	p.S3361N			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	64	10489	-		Hepatocellular(203;0.114)	3378					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.10082G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548834	0.13312	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62941	-0.01;-0.01	4.81	3.88	0.44766	WD40 repeat-like-containing domain (1);	0.325080	0.40554	N	0.001078	T	0.27169	0.0666	N	0.01048	-1.04	0.37895	D	0.930854	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	10	0.10902	T	0.67	.	9.9806	0.41811	0.0:0.8333:0.0:0.1667	.	3378	Q8IZQ1	WDFY3_HUMAN	N	3361;3378	ENSP00000318466:S3361N;ENSP00000295888:S3378N	ENSP00000295888:S3378N	S	-	2	0	WDFY3	85819110	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.453000	0.35167	2.483000	0.83821	0.650000	0.86243	AGC		0.517	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		92	482	0	0	0	1	0	92	482				
DLGAP4	22839	broad.mit.edu	37	20	35128033	35128033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128033G>A	ENST00000373907.2	+	8	2252	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	DLGAP4_ENST00000339266.5_Missense_Mutation_p.A685T|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	685					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCCAGTCCCGCTACCAAATT	0.542																																						ENST00000339266.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2053-2055)Gct>Act		discs, large (Drosophila) homolog-associated protein 4							76.0	72.0	73.0					20																	35128033		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128033G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2053G>A	20.37:g.35128033G>A	ENSP00000363014:p.Ala685Thr					DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A685T|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T	p.A685T	NM_001042486.2	NP_001035951.1	Q9Y2H0	DLGP4_HUMAN			7	2053	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	685					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2053G>A		.	.	.	.	.	.	.	.	.	.	G	11.31	1.601401	0.28534	.	.	ENSG00000080845	ENST00000373907;ENST00000339266;ENST00000340491	T;T;T	0.17213	2.29;2.29;2.29	5.25	5.25	0.73442	.	0.304616	0.33753	N	0.004589	T	0.07548	0.0190	.	.	.	0.26244	N	0.978822	B	0.06786	0.001	B	0.08055	0.003	T	0.24012	-1.0172	9	0.02654	T	1	.	13.5615	0.61793	0.0:0.1559:0.8441:0.0	.	146	Q9Y2H0-3	.	T	685;685;146	ENSP00000363014:A685T;ENSP00000341633:A685T;ENSP00000345700:A146T	ENSP00000341633:A685T	A	+	1	0	DLGAP4	34561447	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.076000	0.41548	2.449000	0.82847	0.650000	0.86243	GCT		0.542	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		19	93	0	0	0	1	0	19	93				
EPHA2	1969	broad.mit.edu	37	1	16464553	16464553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464553G>T	ENST00000358432.5	-	5	1261	c.1107C>A	c.(1105-1107)tgC>tgA	p.C369*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	369	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACTCGGGCCAGCACTGTTCGC	0.677																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1105-1107)tgC>tgA		EPH receptor A2	Dasatinib(DB01254)						48.0	42.0	44.0					1																	16464553		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464553G>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1107C>A	1.37:g.16464553G>T	ENSP00000351209:p.Cys369*						p.C369*	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1261	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	369			Fibronectin type-III 1.		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.1107C>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686181	0.96784	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.06	0.47325	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7751	0.51981	0.0878:0.0:0.9122:0.0	.	.	.	.	X	369	.	ENSP00000351209:C369X	C	-	3	2	EPHA2	16337140	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.165000	0.50778	1.239000	0.43787	0.561000	0.74099	TGC		0.677	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		33	137	1	0	4.02929e-09	1	4.23443e-09	33	137				
TRAV27	28655	broad.mit.edu	37	14	22616333	22616333	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22616333G>A	ENST00000390457.2	+	0	171									T cell receptor alpha variable 27																		CTGGAGCAGAGCCCTCAGTTT	0.483																																						ENST00000390457.2																			0																				56.0	59.0	58.0					14																	22616333		1868	4112	5980			0							g.chr14:22616333G>A	AE000660		14q11.2	2012-02-07			ENSG00000211809	ENSG00000211809		"""T cell receptors / TRA locus"""	12125	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170656		14.37:g.22616333G>A														0	171	+									RNA	SNP	ENST00000390457.2	37																																																																																						0.483	TRAV27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409904.1	NG_001332		39	183	0	0	0	1	0	39	183				
CEP350	9857	broad.mit.edu	37	1	180022124	180022124	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180022124A>G	ENST00000367607.3	+	23	5230	c.4812A>G	c.(4810-4812)acA>acG	p.T1604T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1604					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTATTGCAACAGAATATTCTC	0.323																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4810-4812)acA>acG		centrosomal protein 350kDa							60.0	63.0	62.0					1																	180022124		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180022124A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4812A>G	1.37:g.180022124A>G							p.T1604T	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			23	5230	+			1604					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.4812A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	0.266	-0.996455	0.02145	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.62	3.13	0.36017	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	7.3946	0.26929	0.6782:0.1222:0.0:0.1995	.	.	.	.	G	244	.	.	R	+	1	2	CEP350	178288747	0.992000	0.36948	1.000000	0.80357	0.039000	0.13416	0.374000	0.20501	1.035000	0.39972	-0.323000	0.08544	AGA		0.323	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		42	164	0	0	0	1	0	42	164				
AGPAT1	10554	broad.mit.edu	37	6	32138808	32138808	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32138808G>A	ENST00000395499.1	-	3	819	c.240C>T	c.(238-240)taC>taT	p.Y80Y	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000375107.3_Silent_p.Y80Y|AGPAT1_ENST00000395497.1_Silent_p.Y80Y|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000336984.6_Silent_p.Y80Y|AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000375104.2_Silent_p.Y80Y			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	80					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTCGGATCCCGTACAGGTATT	0.567																																						ENST00000395499.1																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(238-240)taC>taT		1-acylglycerol-3-phosphate O-acyltransferase 1							104.0	98.0	100.0					6																	32138808		1510	2708	4218	SO:0001819	synonymous_variant	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32138808G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.240C>T	6.37:g.32138808G>A						AGPAT1_ENST00000395497.1_Silent_p.Y80Y|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000375104.2_Silent_p.Y80Y|AGPAT1_ENST00000336984.6_Silent_p.Y80Y|AGPAT1_ENST00000375107.3_Silent_p.Y80Y|AGPAT1_ENST00000490711.1_Intron	p.Y80Y			Q99943	PLCA_HUMAN			3	819	-			80					A2BFI5|Q5BL03	Silent	SNP	ENST00000395499.1	37	c.240C>T	CCDS4744.1																																																																																				0.567	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		12	449	0	0	0	1	0	12	449				
C4orf33	132321	broad.mit.edu	37	4	130023756	130023756	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130023756G>T	ENST00000281146.5	+	2	712		c.e2-1		C4orf33_ENST00000425929.1_Splice_Site|C4orf33_ENST00000502887.1_Splice_Site	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTTCTTTTAGAGACTTCAGA	0.348																																						ENST00000281146.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.e2-1		chromosome 4 open reading frame 33							51.0	51.0	51.0					4																	130023756		2203	4300	6503	SO:0001630	splice_region_variant	132321							g.chr4:130023756G>T	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.-9-1G>T	4.37:g.130023756G>T						C4orf33_ENST00000425929.1_Splice_Site|C4orf33_ENST00000502887.1_Splice_Site		NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN			2	712	+								D3DNY2|Q6PJF3|Q8NBC5	Splice_Site	SNP	ENST00000281146.5	37		CCDS3741.1																																																																																				0.348	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487	Intron	7	272	1	0	2.0095e-06	1	2.07161e-06	7	272				
GRM6	2916	broad.mit.edu	37	5	178409946	178409946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178409946G>T	ENST00000517717.1	-	10	2439	c.2401C>A	c.(2401-2403)Ccc>Acc	p.P801T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P801T			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	801					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGAAGATGGGCACGAATGCC	0.577																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2401-2403)Ccc>Acc		glutamate receptor, metabotropic 6							103.0	86.0	91.0					5																	178409946		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178409946G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2401C>A	5.37:g.178409946G>T	ENSP00000430767:p.Pro801Thr					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P801T	p.P801T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2579	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	801						Missense_Mutation	SNP	ENST00000517717.1	37	c.2401C>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124804	0.77436	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.90563	-2.69;-2.69	4.79	4.79	0.61399	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96577	0.8883	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97652	1.0155	9	0.87932	D	0	.	15.7151	0.77661	0.0:0.0:1.0:0.0	.	801;95	O15303;Q5HYM4	GRM6_HUMAN;.	T	801	ENSP00000231188:P801T;ENSP00000430767:P801T	ENSP00000231188:P801T	P	-	1	0	GRM6	178342552	1.000000	0.71417	0.990000	0.47175	0.714000	0.41099	9.661000	0.98601	2.387000	0.81309	0.313000	0.20887	CCC		0.577	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			66	339	1	0	3.07281e-33	1	3.63882e-33	66	339				
SLC46A3	283537	broad.mit.edu	37	13	29287292	29287292	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287292A>G	ENST00000266943.6	-	3	954	c.585T>C	c.(583-585)ggT>ggC	p.G195G	SLC46A3_ENST00000380814.4_Silent_p.G195G	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	195					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACCACTCAAAACCTAGCTCTC	0.348																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(583-585)ggT>ggC		solute carrier family 46, member 3							54.0	52.0	52.0					13																	29287292		2203	4300	6503	SO:0001819	synonymous_variant	283537				transmembrane transport	integral to membrane		g.chr13:29287292A>G		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.585T>C	13.37:g.29287292A>G						SLC46A3_ENST00000380814.4_Silent_p.G195G	p.G195G	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	3	954	-		Lung SC(185;0.0367)	195					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	37	c.585T>C	CCDS9332.1																																																																																				0.348	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		62	239	0	0	0	1	0	62	239				
CCDC180	100499483	broad.mit.edu	37	9	100117175	100117175	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100117175C>A	ENST00000357054.1	+	35	4129	c.3194C>A	c.(3193-3195)gCc>gAc	p.A1065D	CCDC180_ENST00000529487.1_Splice_Site_p.A1094D|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Splice_Site_p.A1094D|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1065						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCTGTACAGGCCAATGATGTC	0.463																																						ENST00000375202.2																			0											c.e38-1		coiled-coil domain containing 180							77.0	77.0	77.0					9																	100117175		2203	4300	6503	SO:0001630	splice_region_variant	100499483							g.chr9:100117175C>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3193-1C>A	9.37:g.100117175C>A						CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Splice_Site_p.A1065_splice|CCDC180_ENST00000529487.1_Splice_Site_p.A1094_splice|RP11-23J9.4_ENST00000534123.1_RNA	p.A1094_splice							38	4633	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Splice_Site	SNP	ENST00000357054.1	37	c.3279_splice		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971473	0.74246	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.13901	2.84;2.55;2.55	4.94	4.94	0.65067	.	0.292508	0.34223	N	0.004152	T	0.34832	0.0911	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.01319	-1.1386	10	0.27082	T	0.32	-16.5234	16.475	0.84130	0.0:1.0:0.0:0.0	.	1233;1065	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	D	1065;1094;1094	ENSP00000349562:A1065D;ENSP00000364348:A1094D;ENSP00000434727:A1094D	ENSP00000349562:A1065D	A	+	2	0	C9orf174	99156996	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.740000	0.68629	2.669000	0.90835	0.655000	0.94253	GCC		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	Missense_Mutation	15	405	1	0	5.01169e-05	1	5.1097e-05	15	405				
RAPGEF2	9693	broad.mit.edu	37	4	160277266	160277266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160277266G>A	ENST00000264431.4	+	23	4849	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1477					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCTGACCCGCGCCTCGCCCCC	0.532																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4429-4431)cGc>cAc		Rap guanine nucleotide exchange factor (GEF) 2							40.0	44.0	43.0					4																	160277266		2082	4210	6292	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277266G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4430G>A	4.37:g.160277266G>A	ENSP00000264431:p.Arg1477His						p.R1477H	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4849	+	all_hematologic(180;0.24)		1477					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4430G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259225	0.59321	.	.	ENSG00000109756	ENST00000264431	T	0.39592	1.07	5.05	5.05	0.67936	.	0.078055	0.51477	D	0.000091	T	0.34366	0.0895	L	0.36672	1.1	0.45161	D	0.998174	B	0.09022	0.002	B	0.04013	0.001	T	0.14282	-1.0478	10	0.56958	D	0.05	.	12.8136	0.57652	0.0787:0.0:0.9213:0.0	.	1477	Q9Y4G8	RPGF2_HUMAN	H	1477	ENSP00000264431:R1477H	ENSP00000264431:R1477H	R	+	2	0	RAPGEF2	160496716	1.000000	0.71417	0.970000	0.41538	0.956000	0.61745	4.472000	0.60189	2.330000	0.79161	0.563000	0.77884	CGC		0.532	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		39	155	0	0	0	1	0	39	155				
MYO18A	399687	broad.mit.edu	37	17	27423801	27423801	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27423801C>T	ENST00000527372.1	-	28	4543	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1455					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTCTCCAGTTCGTGGTTGCGG	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4363-4365)Gaa>Aaa		myosin XVIIIA							31.0	35.0	34.0					17																	27423801		2051	4212	6263	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27423801C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4363G>A	17.37:g.27423801C>T	ENSP00000437073:p.Glu1455Lys					MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K	p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		28	4543	-			1455					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4363G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830253	0.91036	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.53	5.53	0.82687	Myosin tail (1);	0.043406	0.85682	D	0.000000	T	0.47358	0.1441	L	0.58810	1.83	0.53688	D	0.999975	D;P;P;P;D	0.63046	0.992;0.948;0.948;0.948;0.967	P;B;B;B;B	0.54270	0.747;0.176;0.24;0.176;0.353	T	0.40515	-0.9559	10	0.54805	T	0.06	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1124;1067;1455;1455;1455	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1455;1455;1455;1455;1455;351;351;1067	ENSP00000346291:E1455K;ENSP00000435932:E1455K;ENSP00000434228:E1455K;ENSP00000437073:E1455K	ENSP00000346291:E1455K	E	-	1	0	MYO18A	24447927	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.453000	0.80700	2.606000	0.88127	0.591000	0.81541	GAA		0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		13	65	0	0	0	1	0	13	65				
NLRP3	114548	broad.mit.edu	37	1	247588135	247588135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588135G>A	ENST00000336119.3	+	3	2136	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000366497.2_Missense_Mutation_p.A464T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	464	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGGCCTCTGCGCCCACCTCTG	0.597																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1390-1392)Gcc>Acc		NLR family, pyrin domain containing 3							28.0	28.0	28.0					1																	247588135		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588135G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1390G>A	1.37:g.247588135G>A	ENSP00000337383:p.Ala464Thr					NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.A464T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T	p.A464T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2170	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	464			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1390G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077163	0.08485	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	4.17	1.24	0.21308	NACHT nucleoside triphosphatase (1);	0.811250	0.10970	N	0.613951	T	0.75064	0.3799	N	0.26162	0.8	0.09310	N	1	B;B;P;B;B	0.50528	0.299;0.424;0.936;0.092;0.07	B;B;B;B;B	0.42462	0.019;0.187;0.388;0.063;0.019	T	0.63756	-0.6565	10	0.14252	T	0.57	.	4.4665	0.11691	0.2042:0.1845:0.6113:0.0	.	464;464;464;464;464	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	464	ENSP00000375704:A464T;ENSP00000355453:A464T;ENSP00000337383:A464T;ENSP00000294752:A464T;ENSP00000355452:A464T;ENSP00000375703:A464T	ENSP00000337383:A464T	A	+	1	0	NLRP3	245654758	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.205000	0.17356	0.299000	0.22661	-0.165000	0.13383	GCC		0.597	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		18	222	0	0	0	1	0	18	222				
KCNJ16	3773	broad.mit.edu	37	17	68128331	68128331	+	Nonsense_Mutation	SNP	C	C	T	rs375990976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128331C>T	ENST00000589377.1	+	2	266	c.103C>T	c.(103-105)Cga>Tga	p.R35*	KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000585558.1_Nonsense_Mutation_p.R70*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	35					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGCAAGAAGACGATTACTTCA	0.453																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(208-210)Cga>Tga		potassium inwardly-rectifying channel, subfamily J, member 16		C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	190.0	174.0	180.0		103,103,103	4.0	0.1	17		180	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	35/419,35/419,35/419	68128331	1,13005	2203	4300	6503	SO:0001587	stop_gained	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128331C>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.103C>T	17.37:g.68128331C>T	ENSP00000465967:p.Arg35*					KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*	p.R70*			Q9NPI9	IRK16_HUMAN			4	596	+	Breast(10;2.96e-09)		35						Nonsense_Mutation	SNP	ENST00000589377.1	37	c.208C>T	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347020	0.95807	0.0	1.16E-4	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	.	.	.	5.99	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2882	0.73846	0.2567:0.7432:0.0:0.0	.	.	.	.	X	35	.	.	R	+	1	2	KCNJ16	65639926	0.638000	0.27225	0.057000	0.19452	0.005000	0.04900	1.272000	0.33109	0.847000	0.35167	-0.127000	0.14921	CGA		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		42	563	0	0	0	1	0	42	563				
HMGCR	3156	broad.mit.edu	37	5	74639762	74639762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74639762C>T	ENST00000287936.4	+	3	406	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	84	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAGAATTTACGTCAACTTGG	0.328																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(250-252)Cgt>Tgt		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						95.0	95.0	95.0					5																	74639762		2203	4297	6500	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74639762C>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.250C>T	5.37:g.74639762C>T	ENSP00000287936:p.Arg84Cys					HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C	p.R84C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	3	406	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	84					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.250C>T	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.683876|3.683876	0.68157|0.68157	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000287936;ENST00000343975;ENST00000507942|ENST00000544469	D;D;D|.	0.93247|.	-3.19;-3.19;-3.19|.	5.36|5.36	4.41|4.41	0.53225|0.53225	Sterol-sensing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.947;0.994;0.947|.	T|T	0.74070|0.74070	-0.3783|-0.3783	10|6	0.87932|0.87932	D|D	0|0	-11.8413|-11.8413	12.8214|12.8214	0.57696|0.57696	0.2856:0.7144:0.0:0.0|0.2856:0.7144:0.0:0.0	.|.	84;84;84|.	B2R649;P04035-2;P04035|.	.;.;HMDH_HUMAN|.	C|M	84|15	ENSP00000426745:R84C;ENSP00000287936:R84C;ENSP00000340816:R84C|.	ENSP00000287936:R84C|ENSP00000440782:T15M	R|T	+|+	1|2	0|0	HMGCR|HMGCR	74675518|74675518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.679000|2.679000	0.46909|0.46909	2.505000|2.505000	0.84491|0.84491	0.591000|0.591000	0.81541|0.81541	CGT|ACG		0.328	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			50	275	0	0	0	1	0	50	275				
ZMYM4	9202	broad.mit.edu	37	1	35873657	35873657	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35873657A>G	ENST00000314607.6	+	26	3925	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1282					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTTTTGCTGAGTTGAGTTTG	0.398																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(3844-3846)gAg>gGg		zinc finger, MYM-type 4							194.0	178.0	183.0					1																	35873657		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35873657A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3845A>G	1.37:g.35873657A>G	ENSP00000322915:p.Glu1282Gly					ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	p.E1282G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			26	3925	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1282					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.3845A>G	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.261489|5.261489	0.95368|0.95368	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.32023|.	1.47;1.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76335|.	0.3973|.	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	P|.	0.48640|.	0.913|.	P|.	0.49752|.	0.621|.	T|.	0.77205|.	-0.2673|.	10|.	0.87932|.	D|.	0|.	-13.7096|-13.7096	16.1199|16.1199	0.81342|0.81342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1282|.	Q5VZL5|.	ZMYM4_HUMAN|.	G|W	1282;1193|940	ENSP00000322915:E1282G;ENSP00000362394:E1193G|.	ENSP00000322915:E1282G|.	E|X	+|+	2|3	0|0	ZMYM4|ZMYM4	35646244|35646244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.904000|8.904000	0.92590|0.92590	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		63	608	0	0	0	1	0	63	608				
KIF26B	55083	broad.mit.edu	37	1	245849462	245849462	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849462G>T	ENST00000407071.2	+	12	3617	c.3177G>T	c.(3175-3177)aaG>aaT	p.K1059N	KIF26B_ENST00000366518.4_Missense_Mutation_p.K678N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1059					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGAAGGCAAGCCCAGGCCCA	0.662																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2032-2034)aaG>aaT		kinesin family member 26B							17.0	22.0	21.0					1																	245849462		2024	4151	6175	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849462G>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3177G>T	1.37:g.245849462G>T	ENSP00000385545:p.Lys1059Asn					KIF26B_ENST00000407071.2_Missense_Mutation_p.K1059N	p.K678N			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2138	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1059			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2034G>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860041	0.51482	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80033	-1.33;-1.32	5.77	4.86	0.63082	.	.	.	.	.	D	0.86197	0.5875	M	0.75447	2.3	0.50632	D	0.999884	D;D	0.89917	0.999;1.0	D;D	0.69307	0.922;0.963	D	0.83558	0.0105	9	0.30078	T	0.28	.	8.3751	0.32438	0.2115:0.0:0.7885:0.0	.	678;1059	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1059;678;675	ENSP00000385545:K1059N;ENSP00000355475:K678N	ENSP00000355475:K678N	K	+	3	2	KIF26B	243916085	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.502000	0.53332	2.744000	0.94065	0.561000	0.74099	AAG		0.662	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		31	182	1	0	4.34311e-12	1	4.6502e-12	31	182				
LCORL	254251	broad.mit.edu	37	4	17963615	17963615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17963615G>A	ENST00000382226.5	-	4	449	c.341C>T	c.(340-342)aCa>aTa	p.T114I	LCORL_ENST00000326877.4_Missense_Mutation_p.T114I|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000539056.1_Missense_Mutation_p.T27I	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	114					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAGCTCCTCTGTTGGTGTTGA	0.348																																						ENST00000382226.5																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(340-342)aCa>aTa		ligand dependent nuclear receptor corepressor-like							114.0	106.0	109.0					4																	17963615		2202	4300	6502	SO:0001583	missense	254251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:17963615G>A		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.341C>T	4.37:g.17963615G>A	ENSP00000371661:p.Thr114Ile					LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I|LCORL_ENST00000539056.1_Missense_Mutation_p.T27I|LCORL_ENST00000326877.3_Missense_Mutation_p.T114I	p.T114I	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN			4	449	-			114					Q96NK1	Missense_Mutation	SNP	ENST00000382226.5	37	c.341C>T	CCDS54749.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528768	0.85706	.	.	ENSG00000178177	ENST00000326877;ENST00000539056;ENST00000382224;ENST00000382226	.	.	.	5.89	5.89	0.94794	.	0.160650	0.56097	D	0.000028	T	0.74642	0.3743	L	0.40543	1.245	0.51767	D	0.999936	D;D	0.76494	0.997;0.999	D;D	0.85130	0.991;0.997	T	0.74377	-0.3685	9	0.59425	D	0.04	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	27;114	B4DSW0;Q8N3X6-3	.;.	I	114;27;30;114	.	ENSP00000317566:T114I	T	-	2	0	LCORL	17572713	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.159000	0.77483	2.793000	0.96121	0.655000	0.94253	ACA		0.348	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_153686		40	208	0	0	0	1	0	40	208				
KRT2	3849	broad.mit.edu	37	12	53045841	53045841	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045841A>G	ENST00000309680.3	-	1	107	c.86T>C	c.(85-87)gTg>gCg	p.V29A		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	29	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCACCAGACACCACAGCTGA	0.597																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(85-87)gTg>gCg		keratin 2							34.0	37.0	36.0					12																	53045841		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045841A>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.86T>C	12.37:g.53045841A>G	ENSP00000310861:p.Val29Ala						p.V29A	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	107	-			29			Head.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.86T>C	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770392	0.31320	.	.	ENSG00000172867	ENST00000309680	D	0.81908	-1.55	5.28	1.42	0.22433	.	.	.	.	.	T	0.75679	0.3882	L	0.58354	1.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.58691	-0.7592	9	0.24483	T	0.36	.	5.7596	0.18192	0.5801:0.1323:0.2876:0.0	.	29	P35908	K22E_HUMAN	A	29	ENSP00000310861:V29A	ENSP00000310861:V29A	V	-	2	0	KRT2	51332108	0.020000	0.18652	0.001000	0.08648	0.963000	0.63663	1.979000	0.40608	0.058000	0.16222	0.379000	0.24179	GTG		0.597	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		26	125	0	0	0	1	0	26	125				
ANKMY1	51281	broad.mit.edu	37	2	241492362	241492362	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241492362C>A	ENST00000272972.3	-	3	396	c.182G>T	c.(181-183)gGc>gTc	p.G61V	ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000391987.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	61							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GTACATGGTGCCGTAGCCTTC	0.557																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(181-183)gGc>gTc		ankyrin repeat and MYND domain containing 1							116.0	101.0	106.0					2																	241492362		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241492362C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.182G>T	2.37:g.241492362C>A	ENSP00000272972:p.Gly61Val					ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000272972.3_Missense_Mutation_p.G61V	p.G61V			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	548	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	61					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.182G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779807	0.49891	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002;ENST00000539830;ENST00000441168;ENST00000418708;ENST00000418505	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.63;0.53;0.53;0.53;0.53;0.53;0.53	4.87	4.87	0.63330	.	0.301070	0.30347	N	0.009840	T	0.81645	0.4866	H	0.96889	3.9	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.984;1.0;1.0;1.0;1.0;1.0;0.998	D	0.88007	0.2760	10	0.87932	D	0	.	15.849	0.78912	0.0:1.0:0.0:0.0	.	61;61;103;61;150;150;150;61	Q4ZFV3;C9J176;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;.;ANKY1_HUMAN	V	150;150;61;150;61;61;229;150;103;150;61;61;103;61;61	ENSP00000362415:G150V;ENSP00000384555:G150V;ENSP00000272972:G61V;ENSP00000355097:G150V;ENSP00000375847:G61V;ENSP00000362417:G61V;ENSP00000383968:G229V;ENSP00000385887:G150V;ENSP00000444707:G103V;ENSP00000385635:G150V;ENSP00000385145:G61V;ENSP00000405938:G103V;ENSP00000407015:G61V;ENSP00000412094:G61V	ENSP00000272972:G61V	G	-	2	0	ANKMY1	241141035	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	4.299000	0.59073	2.437000	0.82529	0.655000	0.94253	GGC		0.557	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		7	285	1	0	8.12818e-05	1	8.2724e-05	7	285				
SRSF6	6431	broad.mit.edu	37	20	42088725	42088725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42088725G>A	ENST00000244020.3	+	4	540	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	145	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.		R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.R145Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CACAAGGAACGAACAAATGAG	0.413																																						ENST00000244020.3																			1	Substitution - Missense(1)	p.R145Q(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(433-435)cGa>cAa		serine/arginine-rich splicing factor 6							139.0	137.0	138.0					20																	42088725		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088725G>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.434G>A	20.37:g.42088725G>A	ENSP00000244020:p.Arg145Gln						p.R145Q	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			4	540	+			145		R -> Q (in a colorectal cancer sample; somatic mutation).	RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.434G>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774272	0.49786	.	.	ENSG00000124193	ENST00000244020	T	0.16324	2.35	6.08	5.14	0.70334	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044791	0.85682	D	0.000000	T	0.42743	0.1216	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.70935	0.971;0.781	T	0.43909	-0.9362	10	0.72032	D	0.01	.	14.3225	0.66496	0.0718:0.0:0.9282:0.0	.	145;145	Q13247;A8K588	SRSF6_HUMAN;.	Q	145	ENSP00000244020:R145Q	ENSP00000244020:R145Q	R	+	2	0	SRSF6	41522139	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.859000	0.86982	1.595000	0.50050	-0.229000	0.12294	CGA		0.413	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		58	276	0	0	0	1	0	58	276				
SF3A1	10291	broad.mit.edu	37	22	30735152	30735152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30735152G>A	ENST00000215793.8	-	10	1618	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SF3A1_ENST00000439242.1_Silent_p.I423I	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	488					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCTCCTCACCGATCTTCTTAC	0.517																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1267-1269)atC>atT		splicing factor 3a, subunit 1, 120kDa							260.0	204.0	223.0					22																	30735152		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30735152G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1464C>T	22.37:g.30735152G>A						SF3A1_ENST00000215793.7_Silent_p.I488I	p.I423I	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			10	1400	-			488					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.1269C>T	CCDS13875.1																																																																																				0.517	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		140	691	0	0	0	1	0	140	691				
ZCCHC8	55596	broad.mit.edu	37	12	122962754	122962754	+	Splice_Site	SNP	G	G	A	rs201799696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122962754G>A	ENST00000336229.4	-	12	1356	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	ZCCHC8_ENST00000543897.1_Splice_Site_p.A171V|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171V|ZCCHC8_ENST00000538116.1_Splice_Site_p.A20V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	409					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TCTATTTACCGCTTGGAAGTT	0.378																																						ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.e10+1		zinc finger, CCHC domain containing 8		G	VAL/ALA	0,3778		0,0,1889	61.0	55.0	57.0		1226	2.0	0.6	12		57	1,8221		0,1,4110	yes	missense-near-splice	ZCCHC8	NM_017612.3	64	0,1,5999	AA,AG,GG		0.0122,0.0,0.0083	benign	409/708	122962754	1,11999	1889	4111	6000	SO:0001630	splice_region_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122962754G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1227+1C>T	12.37:g.122962754G>A						ZCCHC8_ENST00000336229.4_Splice_Site_p.A409_splice|ZCCHC8_ENST00000538116.1_Splice_Site_p.A20_splice|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171_splice	p.A171_splice			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	10	2867	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		409					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Splice_Site	SNP	ENST00000336229.4	37	c.513_splice		.	.	.	.	.	.	.	.	.	.	G	13.91	2.376856	0.42105	0.0	1.22E-4	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054;ENST00000536663	T;T;T;T	0.46451	0.89;0.89;0.87;0.93	5.81	2.05	0.26809	.	0.932856	0.09295	N	0.821737	T	0.29458	0.0734	L	0.29908	0.895	0.39455	D	0.967477	B	0.06786	0.001	B	0.04013	0.001	T	0.06679	-1.0813	10	0.36615	T	0.2	0.1657	6.4821	0.22069	0.255:0.0:0.6284:0.1166	.	409	Q6NZY4	ZCHC8_HUMAN	V	171;171;409;20;20;171;171	ENSP00000441423:A171V;ENSP00000438993:A171V;ENSP00000337313:A409V;ENSP00000440028:A20V	ENSP00000337313:A409V	A	-	2	0	ZCCHC8	121528707	0.110000	0.22057	0.637000	0.29366	0.883000	0.51084	0.314000	0.19432	0.121000	0.18284	0.555000	0.69702	GCG		0.378	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	Missense_Mutation	11	31	0	0	0	1	0	11	31				
TEK	7010	broad.mit.edu	37	9	27197484	27197484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27197484C>T	ENST00000380036.4	+	12	2238	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L	TEK_ENST00000519097.1_Missense_Mutation_p.S452L|TEK_ENST00000406359.4_Missense_Mutation_p.S556L|RNA5SP280_ENST00000411230.1_RNA	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	599	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AACTTGACTTCGGTGCTACTT	0.463																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1795-1797)tCg>tTg		TEK tyrosine kinase, endothelial							103.0	92.0	96.0					9																	27197484		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27197484C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1796C>T	9.37:g.27197484C>T	ENSP00000369375:p.Ser599Leu					TEK_ENST00000406359.4_Missense_Mutation_p.S556L|TEK_ENST00000519097.1_Missense_Mutation_p.S452L	p.S599L	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	12	2238	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	599			Fibronectin type-III 2.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1796C>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381519	0.42207	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.54	3.52	0.40303	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168921	0.28420	N	0.015417	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.34313	0.448;0.008;0.197;0.013	B;B;B;B	0.25759	0.063;0.005;0.027;0.005	T	0.30995	-0.9959	10	0.48119	T	0.1	.	10.2421	0.43319	0.0:0.6052:0.3212:0.0736	.	452;632;556;599	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	L	452;599;556;409	ENSP00000430686:S452L;ENSP00000369375:S599L;ENSP00000383977:S556L;ENSP00000428337:S409L	ENSP00000369375:S599L	S	+	2	0	TEK	27187484	0.037000	0.19845	0.818000	0.32626	0.966000	0.64601	1.174000	0.31932	2.619000	0.88677	0.655000	0.94253	TCG		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			82	389	0	0	0	1	0	82	389				
PDGFRA	5156	broad.mit.edu	37	4	55156501	55156501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156501G>A	ENST00000257290.5	+	22	3233	c.2902G>A	c.(2902-2904)Gac>Aac	p.D968N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D728N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	968					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AATTCACCTGGACTTCCTGAA	0.393			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2902-2904)Gac>Aac		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						84.0	82.0	83.0					4																	55156501		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156501G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2902G>A	4.37:g.55156501G>A	ENSP00000257290:p.Asp968Asn	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.D728N	p.D968N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3233	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		968					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2902G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561135	0.86335	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78003	-1.14;-0.95	5.9	5.05	0.67936	.	0.000000	0.33813	U	0.004525	D	0.82379	0.5024	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.59825	0.864	T	0.79014	-0.1976	10	0.15066	T	0.55	.	17.0757	0.86585	0.0:0.127:0.873:0.0	.	968	P16234	PGFRA_HUMAN	N	728;968	ENSP00000423325:D728N;ENSP00000257290:D968N	ENSP00000423325:D728N	D	+	1	0	FIP1L1;PDGFRA	54851258	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.473000	0.81007	1.495000	0.48549	-0.181000	0.13052	GAC		0.393	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		12	305	0	0	0	1	0	12	305				
MCM3AP	8888	broad.mit.edu	37	21	47692708	47692708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47692708C>T	ENST00000397708.1	-	9	2486	c.2232G>A	c.(2230-2232)acG>acA	p.T744T	MCM3AP_ENST00000291688.1_Silent_p.T744T			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	744	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.T744T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCAGGGACACCGTCAGGGGGT	0.547																																						ENST00000397708.1																			1	Substitution - coding silent(1)	p.T744T(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2230-2232)acG>acA		minichromosome maintenance complex component 3 associated protein							96.0	79.0	85.0					21																	47692708		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47692708C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2232G>A	21.37:g.47692708C>T						MCM3AP_ENST00000291688.1_Silent_p.T744T	p.T744T			O60318	MCM3A_HUMAN			9	2486	-	Breast(49;0.112)		744					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.2232G>A	CCDS13734.1																																																																																				0.547	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		57	265	0	0	0	1	0	57	265				
CKAP5	9793	broad.mit.edu	37	11	46784532	46784532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46784532G>A	ENST00000529230.1	-	30	3931	c.3885C>T	c.(3883-3885)gtC>gtT	p.V1295V	CKAP5_ENST00000354558.3_Silent_p.V1295V|CKAP5_ENST00000312055.5_Silent_p.V1295V|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Silent_p.V1295V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1295					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTACCTTGACGACAAGATAGG	0.383																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3883-3885)gtC>gtT		cytoskeleton associated protein 5							111.0	102.0	105.0					11																	46784532		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46784532G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3885C>T	11.37:g.46784532G>A						CKAP5_ENST00000312055.5_Silent_p.V1295V|CKAP5_ENST00000354558.3_Silent_p.V1295V|CKAP5_ENST00000415402.1_Silent_p.V1295V	p.V1295V			Q14008	CKAP5_HUMAN			30	3931	-			1295					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.3885C>T	CCDS31477.1																																																																																				0.383	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		12	380	0	0	0	1	0	12	380				
HERC6	55008	broad.mit.edu	37	4	89311904	89311904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89311904G>T	ENST00000264346.7	+	4	596	c.537G>T	c.(535-537)gaG>gaT	p.E179D	HERC6_ENST00000273960.3_Missense_Mutation_p.E179D|HERC6_ENST00000380265.5_Missense_Mutation_p.E179D	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	179					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGTCCCTGGAGGGGATCCCAC	0.627																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(535-537)gaG>gaT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							48.0	56.0	53.0					4																	89311904		2203	4300	6503	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89311904G>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.537G>T	4.37:g.89311904G>T	ENSP00000264346:p.Glu179Asp					HERC6_ENST00000273960.3_Missense_Mutation_p.E179D|HERC6_ENST00000264346.7_Missense_Mutation_p.E179D	p.E179D	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	4	720	+		Hepatocellular(203;0.114)	179					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.537G>T	CCDS47098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.574|8.574	0.880806|0.880806	0.17467|0.17467	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346|ENST00000502870	D;D;D|.	0.85484|.	-1.99;-1.99;-1.99|.	4.62|4.62	-1.65|-1.65	0.08291|0.08291	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.516982|.	0.18680|.	N|.	0.134194|.	T|T	0.15998|0.15998	0.0385|0.0385	N|N	0.16478|0.16478	0.41|0.41	0.26412|0.26412	N|N	0.976246|0.976246	B;B|.	0.15719|.	0.014;0.003|.	B;B|.	0.19946|.	0.027;0.015|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.13108|.	T|.	0.6|.	.|.	0.4484|0.4484	0.00497|0.00497	0.3259:0.1176:0.2342:0.3223|0.3259:0.1176:0.2342:0.3223	.|.	179;179|.	Q8IVU3-2;Q8IVU3|.	.;HERC6_HUMAN|.	D|M	179|144	ENSP00000369617:E179D;ENSP00000273960:E179D;ENSP00000264346:E179D|.	ENSP00000264346:E179D|.	E|R	+|+	3|2	2|0	HERC6|HERC6	89530927|89530927	0.536000|0.536000	0.26378|0.26378	0.994000|0.994000	0.49952|0.49952	0.955000|0.955000	0.61496|0.61496	0.131000|0.131000	0.15870|0.15870	-0.175000|-0.175000	0.10725|0.10725	0.447000|0.447000	0.29281|0.29281	GAG|AGG		0.627	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			8	258	1	0	3.09899e-07	1	3.21319e-07	8	258				
AMPH	273	broad.mit.edu	37	7	38543262	38543262	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38543262C>A	ENST00000356264.2	-	3	408	c.193G>T	c.(193-195)Gca>Tca	p.A65S	AMPH_ENST00000325590.5_Missense_Mutation_p.A65S|AMPH_ENST00000428293.2_Missense_Mutation_p.A65S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	65	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGATTGCTGCTAAATATCCT	0.378																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(193-195)Gca>Tca		amphiphysin							229.0	191.0	204.0					7																	38543262		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38543262C>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.193G>T	7.37:g.38543262C>A	ENSP00000348602:p.Ala65Ser					AMPH_ENST00000325590.5_Missense_Mutation_p.A65S|AMPH_ENST00000428293.2_Missense_Mutation_p.A65S	p.A65S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			3	408	-			65			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.193G>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089838	0.55968	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.62639	0.01;0.01;0.01	5.92	5.04	0.67666	BAR (3);	0.184681	0.47455	D	0.000226	T	0.57051	0.2027	L	0.36672	1.1	0.44485	D	0.997425	B;B	0.25850	0.054;0.136	B;B	0.39531	0.139;0.302	T	0.50516	-0.8819	10	0.15499	T	0.54	-13.998	12.5297	0.56106	0.0:0.9217:0.0:0.0783	.	65;65	P49418-2;P49418	.;AMPH_HUMAN	S	65	ENSP00000317441:A65S;ENSP00000348602:A65S;ENSP00000390734:A65S	ENSP00000317441:A65S	A	-	1	0	AMPH	38509787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.150000	0.50662	1.513000	0.48852	0.655000	0.94253	GCA		0.378	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		32	430	1	0	5.90632e-09	1	6.19411e-09	32	430				
ZNF716	441234	broad.mit.edu	37	7	57528762	57528762	+	Missense_Mutation	SNP	C	C	T	rs377372982		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57528762C>T	ENST00000420713.1	+	4	707	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATGCTTTCACGCCTAAATCA	0.338																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(595-597)Cgc>Tgc		zinc finger protein 716		C	CYS/ARG	0,1384		0,0,692	66.0	57.0	60.0		595	0.2	0.1	7		60	1,3181		0,1,1590	no	missense	ZNF716	NM_001159279.1	180	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	possibly-damaging	199/496	57528762	1,4565	692	1591	2283	SO:0001583	missense	441234							g.chr7:57528762C>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.595C>T	7.37:g.57528762C>T	ENSP00000394248:p.Arg199Cys						p.R199C	NM_001159279.1	NP_001152751.1					4	707	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.595C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143924	0.06627	0.0	3.14E-4	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.15256	2.44	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	L	0.28014	0.82	0.09310	N	1	P	0.52842	0.956	B	0.28784	0.094	T	0.32534	-0.9903	9	0.51188	T	0.08	.	2.6947	0.05130	0.0:0.5591:0.0:0.4409	.	187	A6NP11	ZN716_HUMAN	C	199;187	ENSP00000394248:R199C	ENSP00000387687:R187C	R	+	1	0	ZNF716	57532704	0.000000	0.05858	0.063000	0.19743	0.063000	0.16089	-6.383000	0.00068	0.300000	0.22699	0.306000	0.20318	CGC		0.338	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		11	62	0	0	0	1	0	11	62				
CDRT4	284040	broad.mit.edu	37	17	15341418	15341418	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341418A>G	ENST00000312177.6	-	4	408	c.128T>C	c.(127-129)aTt>aCt	p.I43T	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR|TVP23C_ENST00000519970.1_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	43										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GCTTTTCTCAATGAGTCTTTT	0.493																																						ENST00000312177.6																			0				endometrium(3)|skin(1)	4						c.(127-129)aTt>aCt		CMT1A duplicated region transcript 4							131.0	115.0	120.0					17																	15341418		2203	4300	6503	SO:0001583	missense	284040							g.chr17:15341418A>G	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.128T>C	17.37:g.15341418A>G	ENSP00000310031:p.Ile43Thr					TVP23C_ENST00000519970.1_3'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	p.I43T	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)	4	408	-			43					A8MSL9|Q8IZ19	Missense_Mutation	SNP	ENST00000312177.6	37	c.128T>C		.	.	.	.	.	.	.	.	.	.	A	12.06	1.823926	0.32237	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.34472	1.36	5.01	3.93	0.45458	.	0.119145	0.38058	N	0.001826	T	0.25644	0.0624	L	0.42245	1.32	0.80722	D	1	B	0.30937	0.301	B	0.27715	0.082	T	0.05321	-1.0892	10	0.27082	T	0.32	-19.6174	6.6705	0.23066	0.8924:0.0:0.1076:0.0	.	43	Q8N9R6	CDRT4_HUMAN	T	44;43	ENSP00000310031:I43T	ENSP00000310031:I43T	I	-	2	0	CDRT4	15282143	0.916000	0.31088	0.659000	0.29680	0.106000	0.19336	2.505000	0.45424	0.956000	0.37904	0.482000	0.46254	ATT		0.493	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		89	418	0	0	0	1	0	89	418				
RNF103	7844	broad.mit.edu	37	2	86831816	86831816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831816G>T	ENST00000237455.4	-	4	2176	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	403					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TACCCATGAAGCCAGTGTGGT	0.398																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(1207-1209)gCt>gAt		ring finger protein 103							84.0	87.0	86.0					2																	86831816		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831816G>T	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1208C>A	2.37:g.86831816G>T	ENSP00000237455:p.Ala403Asp					AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA	p.A403D	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2176	-			403					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1208C>A	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882521	0.72294	.	.	ENSG00000239305	ENST00000237455	T	0.50277	0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70193	-0.4939	10	0.87932	D	0	-14.2447	19.5934	0.95525	0.0:0.0:1.0:0.0	.	403	O00237	RN103_HUMAN	D	403	ENSP00000237455:A403D	ENSP00000237455:A403D	A	-	2	0	RNF103	86685327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.490000	0.97952	2.641000	0.89580	0.460000	0.39030	GCT		0.398	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		65	316	1	0	4.64241e-40	1	5.62287e-40	65	316				
ARHGEF15	22899	broad.mit.edu	37	17	8222373	8222373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8222373G>T	ENST00000361926.3	+	13	2192	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_Splice_Site|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	694					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCCTGGTCCAGGCCCAGCAGG	0.642																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2080-2082)caG>caT		Rho guanine nucleotide exchange factor (GEF) 15							77.0	80.0	79.0					17																	8222373		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222373G>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2082G>T	17.37:g.8222373G>T	ENSP00000355026:p.Gln694His					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H|ARHGEF15_ENST00000582060.1_Splice_Site	p.Q694H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			13	2192	+			694					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.2082G>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	14.08	2.427328	0.43122	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.88046	-2.33;-2.33	4.89	1.55	0.23275	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	L	0.41573	1.285	0.33947	D	0.643989	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86348	0.1709	10	0.72032	D	0.01	-21.3641	3.8717	0.09039	0.2262:0.2035:0.5703:0.0	.	694;694	D3DTR7;O94989	.;ARHGF_HUMAN	H	694;484;694	ENSP00000355026:Q694H;ENSP00000412505:Q694H	ENSP00000355026:Q694H	Q	+	3	2	ARHGEF15	8163098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.643000	0.24750	0.627000	0.30340	0.561000	0.74099	CAG		0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		105	476	1	0	7.59261e-44	1	9.28096e-44	105	476				
ENTPD6	955	broad.mit.edu	37	20	25203540	25203540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25203540C>T	ENST00000376652.4	+	12	1275	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	ENTPD6_ENST00000360031.2_Missense_Mutation_p.T370M|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	371					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTGCACAGGACGGAGGAAGTG	0.577																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1108-1110)aCg>aTg		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							187.0	155.0	166.0					20																	25203540		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25203540C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1112C>T	20.37:g.25203540C>T	ENSP00000365840:p.Thr371Met					ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M|ENTPD6_ENST00000376652.4_Missense_Mutation_p.T371M|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M	p.T370M	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			12	1291	+			371					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1109C>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701382|2.701382	0.48307|0.48307	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000433259	.|T;T;T;T	.|0.18338	.|2.61;2.61;2.61;2.22	5.67|5.67	1.65|1.65	0.23941|0.23941	.|.	.|0.362158	.|0.32357	.|N	.|0.006218	T|T	0.32615|0.32615	0.0835|0.0835	M|M	0.71036|0.71036	2.16|2.16	0.09310|0.09310	N|N	1|1	.|P;D;D;D;P;D;D;D	.|0.62365	.|0.889;0.991;0.985;0.991;0.889;0.973;0.991;0.991	.|B;P;P;P;P;P;P;P	.|0.60236	.|0.287;0.829;0.806;0.871;0.541;0.671;0.79;0.79	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.72032	.|D	.|0.01	-6.0596|-6.0596	9.8497|9.8497	0.41048|0.41048	0.0:0.7265:0.0:0.2735|0.0:0.7265:0.0:0.2735	.|.	.|119;353;371;337;354;370;370;371	.|B4DHS2;B4DDM7;B4DNK6;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;ENTP6_HUMAN	W|M	292;230|354;370;291;267;371;337	.|ENSP00000347084:T354M;ENSP00000353131:T370M;ENSP00000365840:T371M;ENSP00000401895:T337M	.|ENSP00000347084:T354M	R|T	+|+	1|2	2|0	ENTPD6|ENTPD6	25151540|25151540	0.079000|0.079000	0.21365|0.21365	0.000000|0.000000	0.03702|0.03702	0.638000|0.638000	0.38207|0.38207	2.982000|2.982000	0.49337|0.49337	0.086000|0.086000	0.17137|0.17137	0.462000|0.462000	0.41574|0.41574	CGG|ACG		0.577	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			128	590	0	0	0	1	0	128	590				
RICTOR	253260	broad.mit.edu	37	5	38947536	38947536	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38947536T>G	ENST00000357387.3	-	32	4174	c.4144A>C	c.(4144-4146)Aaa>Caa	p.K1382Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTAAGGCTTTCATGAACCTA	0.328																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4144-4146)Aaa>Caa		RPTOR independent companion of MTOR, complex 2							53.0	50.0	51.0					5																	38947536		2203	4299	6502	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38947536T>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4144A>C	5.37:g.38947536T>G	ENSP00000349959:p.Lys1382Gln					RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	p.K1382Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			32	4174	-	all_lung(31;0.000396)		1382						Missense_Mutation	SNP	ENST00000357387.3	37	c.4144A>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355906	0.61293	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.55052	0.82;0.54	5.68	4.49	0.54785	.	0.141787	0.64402	D	0.000006	T	0.53674	0.1811	L	0.56769	1.78	0.51012	D	0.9999	P;P	0.47762	0.835;0.9	P;P	0.44990	0.466;0.466	T	0.57917	-0.7728	10	0.87932	D	0	-13.4672	12.8199	0.57688	0.0:0.0:0.1365:0.8635	.	1382;1406	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1382;1406	ENSP00000349959:K1382Q;ENSP00000296782:K1406Q	ENSP00000296782:K1406Q	K	-	1	0	RICTOR	38983293	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.814000	0.69208	0.940000	0.37473	0.528000	0.53228	AAA		0.328	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		26	201	0	0	0	1	0	26	201				
PTPRB	5787	broad.mit.edu	37	12	70938438	70938438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70938438C>T	ENST00000261266.5	-	20	4768	c.4739G>A	c.(4738-4740)aGc>aAc	p.S1580N	PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N|PTPRB_ENST00000334414.6_Missense_Mutation_p.S1798N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1490N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1580					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTCGAATGCTGATTCTGAA	0.368																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5392-5394)aGc>aAc		protein tyrosine phosphatase, receptor type, B							81.0	76.0	77.0					12																	70938438		1812	4074	5886	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70938438C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4739G>A	12.37:g.70938438C>T	ENSP00000261266:p.Ser1580Asn					PTPRB_ENST00000261266.5_Missense_Mutation_p.S1580N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1490N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N	p.S1798N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		22	5437	-	Renal(347;0.236)		1580			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5393G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447575	0.84101	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.77358	0.55;0.55;0.55;-1.09;0.55;0.55	5.44	5.44	0.79542	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	D	0.86793	0.6018	L	0.60455	1.87	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.993;0.997	D	0.87050	0.2146	10	0.59425	D	0.04	.	19.2679	0.93997	0.0:1.0:0.0:0.0	.	1490;1490;1798;1580;1710	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	N	1798;1490;1710;1490;1490;1580	ENSP00000334928:S1798N;ENSP00000393028:S1490N;ENSP00000448058:S1710N;ENSP00000438927:S1490N;ENSP00000447302:S1490N;ENSP00000261266:S1580N	ENSP00000261266:S1580N	S	-	2	0	PTPRB	69224705	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.810000	0.75216	2.563000	0.86464	0.585000	0.79938	AGC		0.368	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			22	106	0	0	0	1	0	22	106				
NUAK1	9891	broad.mit.edu	37	12	106460674	106460674	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106460674C>T	ENST00000261402.2	-	7	3271	c.1892G>A	c.(1891-1893)cGg>cAg	p.R631Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	631					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCTGCCAGCCGGTTCCGGTA	0.582																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1891-1893)cGg>cAg		NUAK family, SNF1-like kinase, 1							57.0	60.0	59.0					12																	106460674		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460674C>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1892G>A	12.37:g.106460674C>T	ENSP00000261402:p.Arg631Gln						p.R631Q	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	3271	-			631					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1892G>A	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276098	0.80580	.	.	ENSG00000074590	ENST00000261402	T	0.72942	-0.7	5.74	5.74	0.90152	.	0.000000	0.53938	D	0.000043	T	0.68659	0.3025	L	0.56769	1.78	0.58432	D	0.999999	D	0.53312	0.959	B	0.38985	0.287	T	0.73279	-0.4033	10	0.52906	T	0.07	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	631	O60285	NUAK1_HUMAN	Q	631	ENSP00000261402:R631Q	ENSP00000261402:R631Q	R	-	2	0	NUAK1	104984804	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.967000	0.56802	2.706000	0.92434	0.563000	0.77884	CGG		0.582	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		117	465	0	0	0	1	0	117	465				
LZTS1	11178	broad.mit.edu	37	8	20110415	20110415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110415G>A	ENST00000381569.1	-	3	1384	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	343					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGAGCTGCCGCTTCTCCTGC	0.647																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1027-1029)Cgg>Tgg		leucine zipper, putative tumor suppressor 1							18.0	20.0	19.0					8																	20110415		2198	4297	6495	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110415G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1027C>T	8.37:g.20110415G>A	ENSP00000370981:p.Arg343Trp					LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W	p.R343W			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1384	-			343					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1027C>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101228	0.56183	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25912	2.09;2.09;1.77	5.45	3.44	0.39384	.	0.253086	0.40640	N	0.001051	T	0.34716	0.0907	L	0.52573	1.65	0.30304	N	0.789216	D;D	0.69078	0.997;0.991	P;B	0.52856	0.711;0.332	T	0.37220	-0.9715	10	0.87932	D	0	-60.708	13.3416	0.60549	0.0:0.0:0.7027:0.2973	.	343;343	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	343	ENSP00000370981:R343W;ENSP00000265801:R343W;ENSP00000429263:R343W	ENSP00000265801:R343W	R	-	1	2	LZTS1	20154695	0.971000	0.33674	1.000000	0.80357	0.883000	0.51084	0.166000	0.16583	1.282000	0.44496	0.561000	0.74099	CGG		0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		37	193	0	0	0	1	0	37	193				
NFATC1	4772	broad.mit.edu	37	18	77193710	77193710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77193710C>T	ENST00000427363.2	+	3	1358	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A453V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	453	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GCCGTGAAGGCGTCGGCCGGA	0.632																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1357-1359)gCg>gTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							53.0	55.0	54.0					18																	77193710		2203	4299	6502	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77193710C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1358C>T	18.37:g.77193710C>T	ENSP00000389377:p.Ala453Val					NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A453V	p.A453V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	3	1727	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	453			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1358C>T		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925889	0.92319	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.46063	0.88;0.88;0.88;0.91	4.49	4.49	0.54785	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P	0.61003	0.647;0.647;0.73;0.802;0.802;0.882;0.73	T	0.70916	-0.4742	10	0.87932	D	0	-12.6612	17.1628	0.86808	0.0:1.0:0.0:0.0	.	440;440;453;453;453;440;453	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	453;453;453;440;440;417	ENSP00000253506:A453V;ENSP00000442435:A453V;ENSP00000327850:A440V;ENSP00000389377:A440V	ENSP00000253506:A453V	A	+	2	0	NFATC1	75294698	1.000000	0.71417	0.920000	0.36463	0.681000	0.39784	7.334000	0.79224	2.024000	0.59613	0.561000	0.74099	GCG		0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		149	466	0	0	0	1	0	149	466				
PNPLA7	375775	broad.mit.edu	37	9	140400201	140400201	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140400201G>T	ENST00000277531.4	-	13	1449	c.1263C>A	c.(1261-1263)agC>agA	p.S421R	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000406427.1_Missense_Mutation_p.S446R	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	421				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAACCATCACGCTTTTCCTGG	0.562																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1336-1338)agC>agA		patatin-like phospholipase domain containing 7							153.0	134.0	141.0					9																	140400201		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140400201G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1263C>A	9.37:g.140400201G>T	ENSP00000277531:p.Ser421Arg					PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S421R	p.S446R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	14	1674	-	all_cancers(76;0.126)		421	FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).				B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1338C>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.228	0.410125	0.11812	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.71341	-0.56;0.23;0.23;0.24	4.26	-8.53	0.00916	.	0.823959	0.11124	N	0.597110	T	0.59238	0.2179	L	0.57536	1.79	0.37440	D	0.914394	B;B	0.12013	0.005;0.001	B;B	0.14023	0.01;0.004	T	0.11690	-1.0577	10	0.37606	T	0.19	-2.0329	11.2443	0.48987	0.7541:0.0:0.129:0.1169	.	446;421	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	27;421;446;421;412	ENSP00000360512:S27R;ENSP00000277531:S421R;ENSP00000384610:S446R;ENSP00000400582:S412R	ENSP00000277531:S421R	S	-	3	2	PNPLA7	139520022	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.997000	0.01470	-2.187000	0.00759	-0.482000	0.04802	AGC		0.562	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		112	571	1	0	1.99536e-56	1	2.497e-56	112	571				
WAPAL	23063	broad.mit.edu	37	10	88211754	88211754	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88211754T>C	ENST00000298767.5	-	15	3556	c.3084A>G	c.(3082-3084)ggA>ggG	p.G1028G	WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1028	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATGAACTTGTCCACCTATCC	0.408																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(3082-3084)ggA>ggG		wings apart-like homolog (Drosophila)							169.0	143.0	152.0					10																	88211754		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88211754T>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3084A>G	10.37:g.88211754T>C						WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	p.G1028G	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			15	3556	-			1028			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.3084A>G	CCDS7375.1																																																																																				0.408	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		81	351	0	0	0	1	0	81	351				
ZNF230	7773	broad.mit.edu	37	19	44514566	44514566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44514566G>T	ENST00000429154.2	+	5	603	c.375G>T	c.(373-375)caG>caT	p.Q125H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	125	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCCCTCCCAGGTTGAGGCAG	0.438																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(373-375)caG>caT		zinc finger protein 230							102.0	96.0	98.0					19																	44514566		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514566G>T	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.375G>T	19.37:g.44514566G>T	ENSP00000409318:p.Gln125His						p.Q125H	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	603	+		Prostate(69;0.0352)	125			KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.375G>T	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465658	0.26335	.	.	ENSG00000159882	ENST00000429154	T	0.05580	3.42	2.36	1.11	0.20524	.	.	.	.	.	T	0.03871	0.0109	N	0.17345	0.48	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.39901	-0.9591	9	0.36615	T	0.2	.	5.4808	0.16723	0.0:0.0:0.6706:0.3294	.	125	Q9UIE0	ZN230_HUMAN	H	125	ENSP00000409318:Q125H	ENSP00000409318:Q125H	Q	+	3	2	ZNF230	49206406	0.000000	0.05858	0.003000	0.11579	0.608000	0.37181	-0.729000	0.04920	1.299000	0.44798	0.205000	0.17691	CAG		0.438	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			67	327	1	0	3.13765e-25	1	3.59736e-25	67	327				
CCKAR	886	broad.mit.edu	37	4	26491823	26491823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26491823C>T	ENST00000295589.3	-	1	261	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	23					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTCATTTTCGAGCCCGAGT	0.483																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(67-69)Gaa>Aaa		cholecystokinin A receptor	Ceruletide(DB00403)						115.0	97.0	103.0					4																	26491823		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491823C>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.67G>A	4.37:g.26491823C>T	ENSP00000295589:p.Glu23Lys						p.E23K	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			1	261	-		Breast(46;0.0503)	23					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.67G>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575313	0.45902	.	.	ENSG00000163394	ENST00000295589	T	0.51071	0.72	5.27	4.42	0.53409	Cholecystokinin A receptor, N-terminal (2);	0.151828	0.43579	D	0.000542	T	0.38585	0.1046	L	0.60455	1.87	0.36322	D	0.858324	B	0.16603	0.018	B	0.12156	0.007	T	0.32052	-0.9921	10	0.07644	T	0.81	.	10.6755	0.45783	0.0:0.913:0.0:0.087	.	23	P32238	CCKAR_HUMAN	K	23	ENSP00000295589:E23K	ENSP00000295589:E23K	E	-	1	0	CCKAR	26100921	0.774000	0.28592	0.115000	0.21578	0.971000	0.66376	1.594000	0.36697	2.477000	0.83638	0.655000	0.94253	GAA		0.483	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			44	158	0	0	0	1	0	44	158				
AFG3L2	10939	broad.mit.edu	37	18	12353089	12353089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12353089C>T	ENST00000269143.3	-	10	1464	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	411					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCCTTCCCACCGCATCGATTT	0.527																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1231-1233)gcG>gcA		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						197.0	151.0	167.0					18																	12353089		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12353089C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1233G>A	18.37:g.12353089C>T							p.A411A	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			10	1464	-			411					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.1233G>A	CCDS11859.1																																																																																				0.527	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		108	507	0	0	0	1	0	108	507				
RBM10	8241	broad.mit.edu	37	X	47039844	47039844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47039844G>A	ENST00000377604.3	+	12	1929	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	396			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R396H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAAGGCAGTCGCATCAGTGCT	0.627																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			1	Substitution - Missense(1)	p.R396H(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(1186-1188)cGc>cAc		RNA binding motif protein 10							42.0	33.0	36.0					X																	47039844		2203	4300	6503	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039844G>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1187G>A	X.37:g.47039844G>A	ENSP00000366829:p.Arg396His					RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H	p.R396H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			12	1929	+			396		R -> H (in a colorectal cancer sample; somatic mutation).			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.1187G>A	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537587	0.65085	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20463	2.74;2.07;2.33	2.92	2.92	0.33932	.	0.074216	0.53938	D	0.000050	T	0.39091	0.1065	M	0.62723	1.935	0.34688	D	0.725429	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.994;0.999	T	0.50642	-0.8804	10	0.37606	T	0.19	-11.582	11.024	0.47734	0.0:0.0:1.0:0.0	.	319;461;395;318;396	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	396;318;319	ENSP00000366829:R396H;ENSP00000328848:R318H;ENSP00000329659:R319H	ENSP00000328848:R318H	R	+	2	0	RBM10	46924788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.112000	0.94314	1.724000	0.51502	0.525000	0.51046	CGC		0.627	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		27	104	0	0	0	1	0	27	104				
C15orf26	161502	broad.mit.edu	37	15	81430434	81430434	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81430434G>A	ENST00000286732.4	+	4	518	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	145										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GATATGGGCAGGACTTTTGCC	0.393																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.(433-435)caG>caA		chromosome 15 open reading frame 26							194.0	186.0	188.0					15																	81430434		1901	4128	6029	SO:0001819	synonymous_variant	161502							g.chr15:81430434G>A	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.435G>A	15.37:g.81430434G>A							p.Q145Q	NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN			4	518	+			145					Q8N906	Silent	SNP	ENST00000286732.4	37	c.435G>A	CCDS42068.1																																																																																				0.393	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		33	355	0	0	0	1	0	33	355				
PCDHB12	56124	broad.mit.edu	37	5	140590692	140590692	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590692A>G	ENST00000239450.2	+	1	2402	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	738					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCTGGTGGACGTGAGTGGC	0.602																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2212-2214)gAc>gGc									70.0	75.0	74.0					5																	140590692		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590692A>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2213A>G	5.37:g.140590692A>G	ENSP00000239450:p.Asp738Gly					PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G	p.D738G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2402	+			738					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2213A>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047246	0.36085	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.53640	0.61;0.77	3.4	2.21	0.28008	.	.	.	.	.	T	0.43144	0.1234	M	0.70595	2.14	0.25453	N	0.987989	B	0.27679	0.185	B	0.32342	0.144	T	0.36744	-0.9735	9	0.17369	T	0.5	.	5.5502	0.17086	0.7279:0.1719:0.1002:0.0	.	738	Q9Y5F1	PCDBC_HUMAN	G	401;738;358	ENSP00000440199:D401G;ENSP00000239450:D738G	ENSP00000239450:D738G	D	+	2	0	PCDHB12	140570876	0.997000	0.39634	0.218000	0.23776	0.116000	0.19942	3.553000	0.53713	0.344000	0.23847	0.392000	0.25879	GAC		0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		145	760	0	0	0	1	0	145	760				
OR2D2	120776	broad.mit.edu	37	11	6913006	6913006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913006G>A	ENST00000299459.2	-	1	824	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	242					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGGTGGGAGCCACAGGTAG	0.428																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(724-726)ggC>ggT		olfactory receptor, family 2, subfamily D, member 2							84.0	79.0	81.0					11																	6913006		2201	4296	6497	SO:0001819	synonymous_variant	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913006G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.726C>T	11.37:g.6913006G>A							p.G242G	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	824	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	242					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	c.726C>T	CCDS31416.1																																																																																				0.428	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		55	194	0	0	0	1	0	55	194				
RNF19B	127544	broad.mit.edu	37	1	33407890	33407890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33407890C>A	ENST00000373456.7	-	7	1575	c.1576G>T	c.(1576-1578)Ggc>Tgc	p.G526C	RNF19B_ENST00000235150.4_Missense_Mutation_p.G525C|RNF19B_ENST00000356990.5_Missense_Mutation_p.G525C	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	526					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGAATGCCGCCACTCAGCGTG	0.458																																						ENST00000356990.5																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1573-1575)Ggc>Tgc		ring finger protein 19B							95.0	93.0	94.0					1																	33407890		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33407890C>A	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1576G>T	1.37:g.33407890C>A	ENSP00000362555:p.Gly526Cys					RNF19B_ENST00000373456.7_Missense_Mutation_p.G526C|RNF19B_ENST00000235150.4_Missense_Mutation_p.G525C	p.G525C	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			7	1572	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	526					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1573G>T	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076134	0.55646	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.53640	0.61;0.82;0.62	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.67869	0.2939	M	0.64170	1.965	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.962;0.976	T	0.70160	-0.4948	10	0.66056	D	0.02	.	18.9322	0.92571	0.0:1.0:0.0:0.0	.	525;526;525	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	C	526;525;525;424	ENSP00000362555:G526C;ENSP00000349482:G525C;ENSP00000235150:G525C	ENSP00000235150:G525C	G	-	1	0	RNF19B	33180477	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	2.780000	0.47742	2.538000	0.85594	0.655000	0.94253	GGC		0.458	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		9	513	1	0	1.76689e-08	1	1.84553e-08	9	513				
PPIL1	51645	broad.mit.edu	37	6	36824411	36824411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36824411G>A	ENST00000373699.5	-	3	482	c.231C>T	c.(229-231)atC>atT	p.I77I	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	77	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						GTTTGCCATAGATAGATGCAC	0.458																																						ENST00000373699.5																			0				lung(1)|ovary(1)	2						c.(229-231)atC>atT		peptidylprolyl isomerase (cyclophilin)-like 1							121.0	107.0	112.0					6																	36824411		2203	4300	6503	SO:0001819	synonymous_variant	51645				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr6:36824411G>A	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.231C>T	6.37:g.36824411G>A						PPIL1_ENST00000483552.1_5'UTR	p.I77I	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN			3	482	-			77			PPIase cyclophilin-type.		O15001|Q5TDC9	Silent	SNP	ENST00000373699.5	37	c.231C>T	CCDS4826.1																																																																																				0.458	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			32	191	0	0	0	1	0	32	191				
GIPC3	126326	broad.mit.edu	37	19	3586949	3586949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3586949C>T	ENST00000322315.5	+	3	594	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	183	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCAAGTCCCAGCCCTTCA	0.657											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322315.5																			1	Substitution - Missense(1)	p.Q184E(1)	lung(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(547-549)tcC>tcT		GIPC PDZ domain containing family, member 3							35.0	34.0	34.0					19																	3586949		2202	4299	6501	SO:0001819	synonymous_variant	126326							g.chr19:3586949C>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.549C>T	19.37:g.3586949C>T			OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.S183S	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	3	594	+			183			PDZ.		O75227	Silent	SNP	ENST00000322315.5	37	c.549C>T	CCDS32871.1																																																																																				0.657	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		34	133	0	0	0	1	0	34	133				
ARHGEF19	128272	broad.mit.edu	37	1	16531318	16531318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16531318G>T	ENST00000270747.3	-	12	1979	c.1843C>A	c.(1843-1845)Ctg>Atg	p.L615M	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	615	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTGGACAGCTTCAGCTTG	0.597																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1843-1845)Ctg>Atg		Rho guanine nucleotide exchange factor (GEF) 19							36.0	34.0	35.0					1																	16531318		2203	4300	6503	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16531318G>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1843C>A	1.37:g.16531318G>T	ENSP00000270747:p.Leu615Met					ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	p.L615M	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	12	1979	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	615			PH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1843C>A	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.022609|2.022609	0.35701|0.35701	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000270747|ENST00000449495	T|.	0.71817|.	-0.6|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.112646|.	0.40144|.	N|.	0.001174|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.70935|.	0.971|.	T|T	0.52653|0.52653	-0.8547|-0.8547	10|5	0.38643|.	T|.	0.18|.	.|.	9.705|9.705	0.40209|0.40209	0.0:0.0:0.7929:0.2071|0.0:0.0:0.7929:0.2071	.|.	615|.	Q8IW93|.	ARHGJ_HUMAN|.	M|R	615|303	ENSP00000270747:L615M|.	ENSP00000270747:L615M|.	L|S	-|-	1|3	2|2	ARHGEF19|ARHGEF19	16403905|16403905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.105000|2.105000	0.41825|0.41825	2.272000|2.272000	0.75746|0.75746	0.561000|0.561000	0.74099|0.74099	CTG|AGC		0.597	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		18	67	1	0	2.35188e-11	1	2.50879e-11	18	67				
SLC13A3	64849	broad.mit.edu	37	20	45192140	45192140	+	Silent	SNP	G	G	A	rs560905872		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45192140G>A	ENST00000279027.4	-	12	1563	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000472148.1_Silent_p.V433V|SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000495082.1_Silent_p.V468V|SLC13A3_ENST00000290317.5_Silent_p.V468V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	515					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGAGCAGCCGACTGTGCCCG	0.612																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1543-1545)gtC>gtT		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						48.0	42.0	44.0					20																	45192140		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45192140G>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1545C>T	20.37:g.45192140G>A						SLC13A3_ENST00000472148.1_Silent_p.V433V|SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000290317.5_Silent_p.V468V|SLC13A3_ENST00000495082.1_Silent_p.V468V	p.V515V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			12	1563	-		Myeloproliferative disorder(115;0.0122)	515					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1545C>T	CCDS13400.1																																																																																				0.612	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			35	136	0	0	0	1	0	35	136				
COL3A1	1281	broad.mit.edu	37	2	189862066	189862066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189862066C>T	ENST00000304636.3	+	26	1990	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	607	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TTTTAGGGTCCTCCTGGAAAG	0.433																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1819-1821)cCt>cTt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						102.0	105.0	104.0					2																	189862066		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189862066C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1820C>T	2.37:g.189862066C>T	ENSP00000304408:p.Pro607Leu					COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	p.P607L	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		26	1990	+			607			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1820C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993368	0.19043	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93659	-3.26;-3.26	6.03	4.98	0.66077	.	0.298232	0.23977	N	0.042719	D	0.87569	0.6210	L	0.35723	1.085	0.19300	N	0.999971	B	0.06786	0.001	B	0.15870	0.014	T	0.68625	-0.5359	10	0.07482	T	0.82	.	12.5333	0.56128	0.0:0.86:0.0:0.14	.	607	P02461	CO3A1_HUMAN	L	607	ENSP00000304408:P607L;ENSP00000315243:P607L	ENSP00000304408:P607L	P	+	2	0	COL3A1	189570311	0.001000	0.12720	0.999000	0.59377	0.440000	0.31957	0.303000	0.19210	2.868000	0.98415	0.555000	0.69702	CCT		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		77	373	0	0	0	1	0	77	373				
DNMT3B	1789	broad.mit.edu	37	20	31380565	31380565	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31380565A>C	ENST00000328111.2	+	9	1376	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	352					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAACCCAACAACACGCAACCA	0.637																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1054-1056)aAc>aCc		DNA (cytosine-5-)-methyltransferase 3 beta							60.0	59.0	59.0					20																	31380565		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31380565A>C		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1055A>C	20.37:g.31380565A>C	ENSP00000328547:p.Asn352Thr					DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T	p.N352T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			9	1376	+			352					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1055A>C	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855864	0.32791	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.97161	-4.07;-4.27;-4.21;-4.19;-4.2;-4.09;-4.27	5.34	0.169	0.15017	.	0.310727	0.40144	N	0.001169	D	0.90800	0.7111	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B;B	0.20052	0.0;0.001;0.041;0.001;0.002;0.001;0.002	B;B;B;B;B;B;B	0.17098	0.001;0.004;0.017;0.006;0.009;0.006;0.003	T	0.80783	-0.1228	10	0.39692	T	0.17	-22.1898	4.1248	0.10123	0.528:0.1768:0.2952:0.0	.	276;310;51;364;352;352;352	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	T	352;438;352;352;310;276;352;364	ENSP00000328547:N352T;ENSP00000313397:N352T;ENSP00000337764:N352T;ENSP00000403169:N310T;ENSP00000412305:N276T;ENSP00000345105:N352T;ENSP00000201963:N364T	ENSP00000201963:N364T	N	+	2	0	DNMT3B	30844226	0.562000	0.26586	1.000000	0.80357	0.974000	0.67602	0.794000	0.26958	0.114000	0.18032	0.459000	0.35465	AAC		0.637	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		57	244	0	0	0	1	0	57	244				
MAPK7	5598	broad.mit.edu	37	17	19283107	19283107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283107C>T	ENST00000308406.5	+	3	631	c.245C>T	c.(244-246)gCc>gTc	p.A82V	MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V|B9D1_ENST00000468679.3_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCAGGTGGCCATCAAGAAG	0.522																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(244-246)gCc>gTc		mitogen-activated protein kinase 7							99.0	95.0	96.0					17																	19283107		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19283107C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.245C>T	17.37:g.19283107C>T	ENSP00000311005:p.Ala82Val					MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V|MAPK7_ENST00000571657.1_Intron	p.A82V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			3	631	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		82			Protein kinase.|Required for binding to MAP2K5 (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.245C>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103757	0.94245	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.17	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112002	0.64402	D	0.000012	D	0.86531	0.5955	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89638	0.3860	10	0.87932	D	0	-16.6401	14.3915	0.66983	0.0:1.0:0.0:0.0	.	82	Q13164	MK07_HUMAN	V	82	ENSP00000311005:A82V;ENSP00000412902:A82V;ENSP00000378968:A82V;ENSP00000378966:A82V	ENSP00000311005:A82V	A	+	2	0	MAPK7	19223700	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.293000	0.78740	2.327000	0.79052	0.460000	0.39030	GCC		0.522	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		37	397	0	0	0	1	0	37	397				
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443																																						ENST00000332323.6																			4	Substitution - coding silent(4)	p.A579A(4)	kidney(4)	central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1735-1737)gcG>gcA		zinc finger protein 534							63.0	62.0	62.0					19																	52942411		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942411G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1737G>A	19.37:g.52942411G>A						ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	p.A579A	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1798	+			579					Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1737G>A	CCDS46165.1																																																																																				0.443	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		5	91	0	0	0	1	0	5	91				
INTS1	26173	broad.mit.edu	37	7	1538957	1538957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1538957C>A	ENST00000404767.3	-	7	969	c.884G>T	c.(883-885)aGc>aTc	p.S295I	INTS1_ENST00000389470.4_Missense_Mutation_p.S423I|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	295					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCCGTCTGGCTGTCCTCCTC	0.692																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1267-1269)aGc>aTc		integrator complex subunit 1							67.0	77.0	74.0					7																	1538957		2071	4207	6278	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538957C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.884G>T	7.37:g.1538957C>A	ENSP00000385722:p.Ser295Ile					INTS1_ENST00000404767.3_Missense_Mutation_p.S295I	p.S423I			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	8	1267	-		Ovarian(82;0.0253)	295					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1268G>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769171	0.49680	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48836	0.8;0.81	4.85	4.85	0.62838	.	0.203137	0.50627	D	0.000108	T	0.50222	0.1603	L	0.46157	1.445	0.39377	D	0.966195	P;P	0.45011	0.848;0.82	P;B	0.45829	0.494;0.312	T	0.58025	-0.7709	10	0.62326	D	0.03	.	17.9689	0.89107	0.0:1.0:0.0:0.0	.	423;295	A4D212;Q8N201	.;INT1_HUMAN	I	295;423	ENSP00000385722:S295I;ENSP00000374121:S423I	ENSP00000374121:S423I	S	-	2	0	INTS1	1505483	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	2.937000	0.48979	2.229000	0.72834	0.563000	0.77884	AGC		0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			121	635	1	0	5.30871e-29	1	6.19452e-29	121	635				
GAPDHS	26330	broad.mit.edu	37	19	36033285	36033285	+	Missense_Mutation	SNP	G	G	A	rs147678774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36033285G>A	ENST00000222286.4	+	5	630	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	172					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCCACAGGCGTGTACCTCTC	0.632																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(514-516)Gtg>Atg		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						52.0	50.0	51.0					19																	36033285		2203	4300	6503	SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36033285G>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.514G>A	19.37:g.36033285G>A	ENSP00000222286:p.Val172Met					AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA	p.V172M	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	630	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		172					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	c.514G>A	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909016	0.72868	.	.	ENSG00000105679	ENST00000222286	T	0.48522	0.81	5.24	3.08	0.35506	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.144521	0.45867	D	0.000336	T	0.65450	0.2692	M	0.86343	2.81	0.58432	D	0.999999	D	0.61697	0.99	P	0.60609	0.877	T	0.69877	-0.5026	10	0.72032	D	0.01	-17.6641	8.7846	0.34811	0.1862:0.0:0.8138:0.0	.	172	O14556	G3PT_HUMAN	M	172	ENSP00000222286:V172M	ENSP00000222286:V172M	V	+	1	0	GAPDHS	40725125	1.000000	0.71417	0.839000	0.33178	0.907000	0.53573	4.529000	0.60588	1.355000	0.45865	-0.448000	0.05591	GTG		0.632	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		9	199	0	0	0	1	0	9	199				
TM9SF4	9777	broad.mit.edu	37	20	30747903	30747903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30747903C>T	ENST00000398022.2	+	16	1913	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	TM9SF4_ENST00000217315.5_Silent_p.L543L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	560						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTACTTCCAGCTGTGTGCAGA	0.537																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1627-1629)Ctg>Ttg		transmembrane 9 superfamily protein member 4							198.0	150.0	166.0					20																	30747903		2203	4300	6503	SO:0001819	synonymous_variant	9777					integral to membrane		g.chr20:30747903C>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1678C>T	20.37:g.30747903C>T						TM9SF4_ENST00000398022.2_Silent_p.L560L	p.L543L			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		16	1967	+			560					B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	c.1627C>T	CCDS13196.2																																																																																				0.537	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		62	243	0	0	0	1	0	62	243				
INO80D	54891	broad.mit.edu	37	2	206870181	206870181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206870181G>A	ENST00000403263.1	-	11	2399	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	665					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCAGGCACTCGAGAGAAGTTA	0.542																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(1993-1995)ctC>ctT		INO80 complex subunit D							82.0	75.0	77.0					2																	206870181		1972	4171	6143	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206870181G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1995C>T	2.37:g.206870181G>A							p.L665L	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			11	2399	-			665					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.1995C>T	CCDS46500.1																																																																																				0.542	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		52	241	0	0	0	1	0	52	241				
ZNF570	148268	broad.mit.edu	37	19	37966858	37966858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37966858C>T	ENST00000330173.1	+	3	638	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCAAAGACATCTGTACAG	0.428																																						ENST00000330173.1																			0				endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27						c.(109-111)Cat>Tat		zinc finger protein 570							172.0	166.0	168.0					19																	37966858		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37966858C>T	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.109C>T	19.37:g.37966858C>T	ENSP00000331540:p.His37Tyr					ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y	p.H37Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	638	+			37			KRAB.		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.109C>T	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787338	0.31593	.	.	ENSG00000171827	ENST00000330173	T	0.01685	4.69	3.57	2.45	0.29901	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	N	0.25825	0.765	0.19775	N	0.999951	P	0.42078	0.77	B	0.41271	0.352	T	0.51301	-0.8723	9	0.72032	D	0.01	.	10.5408	0.45031	0.0:0.7828:0.2172:0.0	.	37	Q96NI8	ZN570_HUMAN	Y	37	ENSP00000331540:H37Y	ENSP00000331540:H37Y	H	+	1	0	ZNF570	42658698	0.000000	0.05858	0.973000	0.42090	0.756000	0.42949	-0.054000	0.11826	1.822000	0.53115	0.467000	0.42956	CAT		0.428	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		79	344	0	0	0	1	0	79	344				
MBD5	55777	broad.mit.edu	37	2	149243447	149243447	+	Silent	SNP	G	G	A	rs572893308		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149243447G>A	ENST00000407073.1	+	11	3979	c.2982G>A	c.(2980-2982)gcG>gcA	p.A994A	MBD5_ENST00000404807.1_Silent_p.A1227A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	994					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A994A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATCTCCAGGCGTTCCAAGGAC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16638	0.0		0.0	False		,,,				2504	0.0					ENST00000407073.1																			1	Substitution - coding silent(1)	p.A994A(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2980-2982)gcG>gcA		methyl-CpG binding domain protein 5							116.0	119.0	118.0					2																	149243447		2203	4300	6503	SO:0001819	synonymous_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149243447G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2982G>A	2.37:g.149243447G>A						MBD5_ENST00000404807.1_Silent_p.A1227A	p.A994A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	11	3979	+			994					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.2982G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371559	0.24771	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.47	-3.25	0.05079	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37267	-0.9713	4	.	.	.	-1.8256	2.4518	0.04520	0.2503:0.4233:0.1571:0.1693	.	.	.	.	H	967	.	.	R	+	2	0	MBD5	148959917	0.710000	0.27896	0.997000	0.53966	0.993000	0.82548	-0.194000	0.09559	-0.164000	0.10927	-0.469000	0.05056	CGT		0.458	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			110	339	0	0	0	1	0	110	339				
IFNLR1	163702	broad.mit.edu	37	1	24485614	24485614	+	Silent	SNP	G	G	A	rs574516768		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24485614G>A	ENST00000327535.1	-	6	741	c.729C>T	c.(727-729)gcC>gcT	p.A243A	IFNLR1_ENST00000374419.1_Silent_p.A160A|IFNLR1_ENST00000374421.3_Silent_p.A243A|IFNLR1_ENST00000327575.2_Intron	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	243					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CACCCCCTGCGGCAATTACTA	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17602	0.0		0.0	False		,,,				2504	0.0					ENST00000327535.1																			0											c.(727-729)gcC>gcT		interferon, lambda receptor 1							68.0	68.0	68.0					1																	24485614		2203	4300	6503	SO:0001819	synonymous_variant	163702							g.chr1:24485614G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.729C>T	1.37:g.24485614G>A						IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374421.3_Silent_p.A243A|IFNLR1_ENST00000374419.1_Silent_p.A160A	p.A243A	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					6	741	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.729C>T	CCDS248.1																																																																																				0.527	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		47	359	0	0	0	1	0	47	359				
KDM4A	9682	broad.mit.edu	37	1	44149434	44149434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44149434G>A	ENST00000372396.3	+	12	1948	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	605	Interaction with NCOR1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAGCTCCCCCGCCATCACCCA	0.478																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1813-1815)cGc>cAc		lysine (K)-specific demethylase 4A							105.0	101.0	103.0					1																	44149434		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44149434G>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1814G>A	1.37:g.44149434G>A	ENSP00000361473:p.Arg605His						p.R605H	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			12	1948	+			605			Interaction with NCOR1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.1814G>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231546	0.95207	.	.	ENSG00000066135	ENST00000372396	T	0.42131	0.98	5.47	5.47	0.80525	.	0.115168	0.53938	D	0.000054	T	0.61664	0.2365	L	0.55481	1.735	0.49687	D	0.999811	D	0.76494	0.999	D	0.76071	0.987	T	0.59429	-0.7456	10	0.46703	T	0.11	-13.6714	18.988	0.92780	0.0:0.0:1.0:0.0	.	605	O75164	KDM4A_HUMAN	H	605	ENSP00000361473:R605H	ENSP00000361473:R605H	R	+	2	0	KDM4A	43922021	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.224000	0.89781	2.589000	0.87451	0.551000	0.68910	CGC		0.478	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		32	344	0	0	0	1	0	32	344				
C6	729	broad.mit.edu	37	5	41176658	41176658	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41176658T>C	ENST00000263413.3	-	8	1351	c.1087A>G	c.(1087-1089)Act>Gct	p.T363A	C6_ENST00000337836.5_Missense_Mutation_p.T363A|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	363	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGTAATGAGTCCCAAAGTCA	0.433																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1087-1089)Act>Gct		complement component 6							125.0	118.0	121.0					5																	41176658		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41176658T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1087A>G	5.37:g.41176658T>C	ENSP00000263413:p.Thr363Ala					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.T363A	p.T363A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			8	1351	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	363			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1087A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714979	0.89112	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.96774	-4.12;-4.12	5.55	5.55	0.83447	Membrane attack complex component/perforin domain, conserved site (1);Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99705	1.1005	10	0.87932	D	0	-19.9222	15.8689	0.79091	0.0:0.0:0.0:1.0	.	363	P13671	CO6_HUMAN	A	363	ENSP00000338861:T363A;ENSP00000263413:T363A	ENSP00000263413:T363A	T	-	1	0	C6	41212415	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.224000	0.78042	2.333000	0.79357	0.482000	0.46254	ACT		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			9	420	0	0	0	1	0	9	420				
ICAM5	7087	broad.mit.edu	37	19	10404950	10404950	+	Missense_Mutation	SNP	A	A	G	rs367841080		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10404950A>G	ENST00000221980.4	+	8	2009	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	649	Ig-like C2-type 7.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AACGCCACCAACCGCCACGGC	0.682																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1945-1947)aAc>aGc		intercellular adhesion molecule 5, telencephalin							96.0	112.0	107.0					19																	10404950		2202	4300	6502	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404950A>G	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1946A>G	19.37:g.10404950A>G	ENSP00000221980:p.Asn649Ser						p.N649S	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		8	2009	+			649			Ig-like C2-type 7.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1946A>G	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	5.854	0.341696	0.11069	.	.	ENSG00000105376	ENST00000221980	T	0.60920	0.15	5.21	4.2	0.49525	Immunoglobulin-like fold (1);	0.235251	0.29900	N	0.010901	T	0.41834	0.1176	L	0.38175	1.15	0.31734	N	0.636686	P	0.36027	0.533	B	0.34536	0.185	T	0.49643	-0.8918	10	0.30078	T	0.28	-20.9295	6.936	0.24466	0.8984:0.0:0.1016:0.0	.	649	Q9UMF0	ICAM5_HUMAN	S	649	ENSP00000221980:N649S	ENSP00000221980:N649S	N	+	2	0	ICAM5	10265950	0.988000	0.35896	0.932000	0.37286	0.077000	0.17291	3.046000	0.49846	1.968000	0.57251	0.448000	0.29417	AAC		0.682	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		52	1560	0	0	0	1	0	52	1560				
CRBN	51185	broad.mit.edu	37	3	3215924	3215924	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3215924C>A	ENST00000231948.4	-	3	218	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	CRBN_ENST00000432408.2_Nonsense_Mutation_p.E65*	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	66					negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	CCATGAAATTCTTCCATATCA	0.388																																						ENST00000231948.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(196-198)Gaa>Taa		cereblon							62.0	61.0	62.0					3																	3215924		2203	4300	6503	SO:0001587	stop_gained	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3215924C>A	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.196G>T	3.37:g.3215924C>A	ENSP00000231948:p.Glu66*					CRBN_ENST00000432408.2_Nonsense_Mutation_p.E65*	p.E66*	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	3	218	-			66					B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Nonsense_Mutation	SNP	ENST00000231948.4	37	c.196G>T	CCDS2562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.419329|6.419329	0.97550|0.97550	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075|ENST00000424814;ENST00000450014	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77933	.|-0.2402	.|3	0.44086|.	T|.	0.13|.	-28.1735|-28.1735	19.7106|19.7106	0.96095|0.96095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	66;65;3|61	.|.	ENSP00000231948:E66X|.	E|K	-|-	1|3	0|2	CRBN|CRBN	3190924|3190924	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.982000|0.982000	0.71751|0.71751	7.638000|7.638000	0.83328|0.83328	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.388	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		6	284	1	0	0.00116845	1	0.00118049	6	284				
HR	55806	broad.mit.edu	37	8	21982977	21982977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982977C>A	ENST00000381418.4	-	5	3077	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	HR_ENST00000312841.8_Missense_Mutation_p.A533S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	533					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GAGTTGGTGGCTGTGTCTTCC	0.677																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1597-1599)Gcc>Tcc		hair growth associated							41.0	43.0	42.0					8																	21982977		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982977C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1597G>T	8.37:g.21982977C>A	ENSP00000370826:p.Ala533Ser					HR_ENST00000312841.8_Missense_Mutation_p.A533S	p.A533S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	3077	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	533					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.1597G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372195	0.24857	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71341	-0.55;-0.56	4.77	1.71	0.24356	.	1.715950	0.03661	N	0.242548	T	0.56171	0.1967	L	0.31294	0.92	0.09310	N	1	B;B	0.16603	0.018;0.006	B;B	0.14578	0.011;0.005	T	0.32348	-0.9910	10	0.07990	T	0.79	0.1831	6.766	0.23566	0.339:0.4494:0.2116:0.0	.	533;533	O43593-2;O43593	.;HAIR_HUMAN	S	533	ENSP00000370826:A533S;ENSP00000326765:A533S	ENSP00000326765:A533S	A	-	1	0	HR	22038922	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.368000	0.07543	0.087000	0.17167	0.462000	0.41574	GCC		0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			25	133	1	0	8.24728e-16	1	9.03206e-16	25	133				
BAZ1A	11177	broad.mit.edu	37	14	35245537	35245537	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35245537G>A	ENST00000382422.2	-	17	2748	c.2421C>T	c.(2419-2421)cgC>cgT	p.R807R	BAZ1A_ENST00000360310.1_Silent_p.R807R|BAZ1A_ENST00000358716.4_Silent_p.R775R			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	807	Interaction with SMARCA5.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACATGCGGTCGCGACCCAAGG	0.418																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2419-2421)cgC>cgT		bromodomain adjacent to zinc finger domain, 1A							133.0	132.0	132.0					14																	35245537		2203	4300	6503	SO:0001819	synonymous_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35245537G>A	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2421C>T	14.37:g.35245537G>A						BAZ1A_ENST00000358716.4_Silent_p.R775R|BAZ1A_ENST00000382422.2_Silent_p.R807R	p.R807R	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	18	2988	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		807			Interaction with SMARCA5.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	c.2421C>T	CCDS9651.1																																																																																				0.418	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			101	480	0	0	0	1	0	101	480				
RASAL2	9462	broad.mit.edu	37	1	178442331	178442331	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442331T>G	ENST00000462775.1	+	16	3502	c.3377T>G	c.(3376-3378)cTt>cGt	p.L1126R	RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R|RASAL2_ENST00000448150.3_Missense_Mutation_p.L1256R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1126					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCACCAAGCTTTCCATCACG	0.537																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3766-3768)cTt>cGt		RAS protein activator like 2							165.0	138.0	147.0					1																	178442331		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178442331T>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3377T>G	1.37:g.178442331T>G	ENSP00000420558:p.Leu1126Arg					RASAL2_ENST00000462775.1_Missense_Mutation_p.L1126R|RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R	p.L1256R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			18	4585	+			1126					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.3767T>G	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.89|18.89	3.719691|3.719691	0.68844|0.68844	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.26660	.|1.72;1.72;1.73	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.42155|0.42155	-0.9468|-0.9468	5|10	.|0.46703	.|T	.|0.11	.|.	14.7884|14.7884	0.69821|0.69821	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1126;1267	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|R	687|1256;1267;1126	.|ENSP00000407768:L1256R;ENSP00000356621:L1267R;ENSP00000420558:L1126R	.|ENSP00000356621:L1267R	F|L	+|+	1|2	0|0	RASAL2|RASAL2	176708954|176708954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.930000|7.930000	0.87610|0.87610	2.170000|2.170000	0.68504|0.68504	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.537	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		112	316	0	0	0	1	0	112	316				
XPR1	9213	broad.mit.edu	37	1	180793991	180793991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180793991C>T	ENST00000367590.4	+	8	1064	c.866C>T	c.(865-867)aCg>aTg	p.T289M	XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	289					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGCATCAACACGTATGGTTGG	0.388																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(865-867)aCg>aTg		xenotropic and polytropic retrovirus receptor 1							151.0	145.0	147.0					1																	180793991		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180793991C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.866C>T	1.37:g.180793991C>T	ENSP00000356562:p.Thr289Met					XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	p.T289M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			8	1064	+			289					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.866C>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365427	0.61513	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42131	0.98;0.98	5.65	5.65	0.86999	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.28192	0.835	0.80722	D	1	P;P	0.46457	0.878;0.472	B;B	0.40901	0.343;0.094	T	0.08066	-1.0740	10	0.37606	T	0.19	-6.6435	19.315	0.94208	0.0:1.0:0.0:0.0	.	289;289	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	M	289	ENSP00000356562:T289M;ENSP00000356561:T289M	ENSP00000356561:T289M	T	+	2	0	XPR1	179060614	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	7.338000	0.79269	2.665000	0.90641	0.650000	0.86243	ACG		0.388	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		78	242	0	0	0	1	0	78	242				
RASL11B	65997	broad.mit.edu	37	4	53731934	53731934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731934G>T	ENST00000248706.3	+	4	927	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GTTTAAGCAAGCCCTCTCTGC	0.562																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(709-711)Gcc>Tcc		RAS-like, family 11, member B							60.0	56.0	57.0					4																	53731934		2203	4300	6503	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731934G>T	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.709G>T	4.37:g.53731934G>T	ENSP00000248706:p.Ala237Ser					RASL11B_ENST00000505041.1_3'UTR	p.A237S	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	927	+			237			Small GTPase-like.			Missense_Mutation	SNP	ENST00000248706.3	37	c.709G>T	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855242	0.91355	.	.	ENSG00000128045	ENST00000248706	T	0.71103	-0.54	5.86	5.86	0.93980	.	0.044956	0.85682	D	0.000000	T	0.76695	0.4023	L	0.58810	1.83	0.80722	D	1	D	0.56968	0.978	P	0.50754	0.649	T	0.77632	-0.2515	10	0.56958	D	0.05	.	19.1747	0.93599	0.0:0.0:1.0:0.0	.	237	Q9BPW5	RSLBB_HUMAN	S	237	ENSP00000248706:A237S	ENSP00000248706:A237S	A	+	1	0	RASL11B	53426691	1.000000	0.71417	0.959000	0.39883	0.832000	0.47134	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	GCC		0.562	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		37	193	1	0	6.05902e-23	1	6.8732e-23	37	193				
HSPH1	10808	broad.mit.edu	37	13	31724241	31724241	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31724241A>T	ENST00000320027.5	-	8	1331	c.987T>A	c.(985-987)caT>caA	p.H329Q	HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q|HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q|HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000380406.5_Missense_Mutation_p.H288Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	329					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTACTTTGAGATGAGTTTGTT	0.373																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(985-987)caT>caA		heat shock 105kDa/110kDa protein 1							137.0	134.0	135.0					13																	31724241		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31724241A>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.987T>A	13.37:g.31724241A>T	ENSP00000318687:p.His329Gln					HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000380406.5_Missense_Mutation_p.H288Q|HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q|HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q	p.H329Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	8	1331	-		Lung SC(185;0.0257)	329					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.987T>A	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	A	3.487	-0.104751	0.06967	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.68	0.836	0.18891	.	0.617569	0.17125	N	0.186070	T	0.10423	0.0255	N	0.02916	-0.46	0.23751	N	0.996945	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.0;0.004;0.0;0.001	T	0.18777	-1.0326	10	0.38643	T	0.18	-0.9598	3.3253	0.07064	0.1111:0.5268:0.1024:0.2596	.	148;288;331;329;329	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	Q	329;329;288;331;148;380	ENSP00000318687:H329Q;ENSP00000369768:H329Q;ENSP00000369769:H288Q;ENSP00000396090:H331Q;ENSP00000388778:H148Q	ENSP00000318687:H329Q	H	-	3	2	HSPH1	30622241	0.993000	0.37304	0.253000	0.24343	0.000000	0.00434	0.299000	0.19138	0.050000	0.15949	-1.263000	0.01449	CAT		0.373	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			22	461	0	0	0	1	0	22	461				
LMO7	4008	broad.mit.edu	37	13	76379826	76379826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76379826G>A	ENST00000321797.8	+	7	1148	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	LMO7_ENST00000357063.3_Missense_Mutation_p.E428K|LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	428	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTGGACCCCAGAAGATGTGAA	0.413																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1282-1284)Gaa>Aaa		LIM domain 7							277.0	259.0	265.0					13																	76379826		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379826G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.427G>A	13.37:g.76379826G>A	ENSP00000317802:p.Glu143Lys					RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|LMO7_ENST00000321797.8_Missense_Mutation_p.E143K	p.E428K			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2542	+		Breast(118;0.0992)	428					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1282G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.073856	0.94000	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	6.06	6.06	0.98353	.	0.054132	0.64402	D	0.000001	T	0.77003	0.4067	M	0.62723	1.935	0.54753	D	0.999985	D	0.76494	0.999	P	0.61874	0.895	T	0.75816	-0.3184	10	0.56958	D	0.05	-25.5359	20.6208	0.99490	0.0:0.0:1.0:0.0	.	143	E9PLH4	.	K	428;428;143;143;143	ENSP00000349571:E428K;ENSP00000366757:E428K;ENSP00000317802:E143K;ENSP00000433352:E143K;ENSP00000432269:E143K	ENSP00000317802:E143K	E	+	1	0	LMO7	75277827	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	8.598000	0.90852	2.882000	0.98803	0.655000	0.94253	GAA		0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		203	1076	0	0	0	1	0	203	1076				
EPPK1	83481	broad.mit.edu	37	8	144940412	144940412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940412C>T	ENST00000525985.1	-	2	7081	c.7010G>A	c.(7009-7011)cGc>cAc	p.R2337H				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCAGCAGGCGGATGCCGTG	0.701																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7009-7011)cGc>cAc		epiplakin 1							166.0	166.0	166.0					8																	144940412		2154	4232	6386	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940412C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7010G>A	8.37:g.144940412C>T	ENSP00000436337:p.Arg2337His						p.R2337H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7081	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2337					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7010G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.294161	0.95546	.	.	ENSG00000227184	ENST00000525985	T	0.80033	-1.33	4.39	4.39	0.52855	.	.	.	.	.	D	0.91693	0.7374	M	0.94021	3.485	0.48040	D	0.999577	D	0.89917	1.0	D	0.97110	1.0	D	0.92847	0.6294	9	0.49607	T	0.09	.	14.9269	0.70887	0.0:1.0:0.0:0.0	.	2337	E9PPU0	.	H	2337	ENSP00000436337:R2337H	ENSP00000436337:R2337H	R	-	2	0	EPPK1	145012400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.733000	0.62036	2.451000	0.82905	0.586000	0.80456	CGC		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		60	2389	0	0	0	1	0	60	2389				
FASTKD2	22868	broad.mit.edu	37	2	207631743	207631743	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631743C>T	ENST00000236980.6	+	2	674	c.326C>T	c.(325-327)gCt>gTt	p.A109V	FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	109					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTACTTTATGCTAAAAGACTG	0.343																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(325-327)gCt>gTt		FAST kinase domains 2							41.0	43.0	43.0					2																	207631743		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631743C>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.326C>T	2.37:g.207631743C>T	ENSP00000236980:p.Ala109Val					FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V	p.A109V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	674	+			109					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.326C>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251448	0.22880	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.48201	2.44;0.82;2.44;2.44	5.07	5.07	0.68467	.	0.870625	0.09920	N	0.738585	T	0.40767	0.1130	L	0.36672	1.1	0.09310	N	1	B;B	0.21225	0.053;0.031	B;B	0.18561	0.022;0.01	T	0.22941	-1.0202	10	0.66056	D	0.02	-5.462	10.885	0.46962	0.0:0.913:0.0:0.087	.	109;109	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	V	109	ENSP00000236980:A109V;ENSP00000409927:A109V;ENSP00000385990:A109V;ENSP00000384929:A109V	ENSP00000236980:A109V	A	+	2	0	FASTKD2	207339988	0.020000	0.18652	0.626000	0.29213	0.007000	0.05969	0.415000	0.21181	2.639000	0.89480	0.561000	0.74099	GCT		0.343	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		16	168	0	0	0	1	0	16	168				
EPHA4	2043	broad.mit.edu	37	2	222294720	222294720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222294720C>T	ENST00000281821.2	-	15	2689	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H	EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R883H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	883					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTTGGGGTTGCGGATGAGTTT	0.512																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2647-2649)cGc>cAc		EPH receptor A4							191.0	187.0	188.0					2																	222294720		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294720C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2648G>A	2.37:g.222294720C>T	ENSP00000281821:p.Arg883His					EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H|EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R883H	p.R883H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2689	-		Renal(207;0.0183)	883					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2648G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994878	0.93167	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.89	5.89	0.94794	Protein kinase-like domain (1);	0.097095	0.64402	D	0.000001	T	0.76737	0.4029	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76366	-0.2985	10	0.66056	D	0.02	.	20.3344	0.98733	0.0:1.0:0.0:0.0	.	883	P54764	EPHA4_HUMAN	H	883;883;883;832	ENSP00000281821:R883H;ENSP00000386276:R883H;ENSP00000386829:R883H;ENSP00000375923:R832H	ENSP00000281821:R883H	R	-	2	0	EPHA4	222002964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.087000	0.71362	2.822000	0.97130	0.650000	0.86243	CGC		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			126	735	0	0	0	1	0	126	735				
XG	7499	broad.mit.edu	37	X	2707735	2707735	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2707735G>T	ENST00000381174.5	+	5	466	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C	XG_ENST00000419513.2_Missense_Mutation_p.G81C|XG_ENST00000426774.1_Missense_Mutation_p.G81C			P55808	XG_HUMAN	Xg blood group	81						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGCAATTCCGGCAACAGTGG	0.303																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(241-243)Ggc>Tgc		Xg blood group							32.0	28.0	29.0					X																	2707735		2196	4286	6482	SO:0001583	missense	7499					integral to membrane|plasma membrane		g.chrX:2707735G>T	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.241G>T	X.37:g.2707735G>T	ENSP00000370566:p.Gly81Cys					XG_ENST00000381174.5_Missense_Mutation_p.G81C|XG_ENST00000419513.2_Missense_Mutation_p.G81C	p.G81C	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			5	464	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	81					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	c.241G>T	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270714	0.23221	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	2.26	1.37	0.22104	.	0.356545	0.23780	U	0.044625	T	0.29817	0.0745	L	0.49778	1.585	0.09310	N	1	D;D	0.57571	0.98;0.975	P;P	0.55923	0.787;0.681	T	0.07888	-1.0749	10	0.35671	T	0.21	.	4.6521	0.12599	0.2032:0.0:0.7968:0.0	.	81;81	P55808;P55808-3	XG_HUMAN;.	C	81;81;81;59	ENSP00000370566:G81C;ENSP00000411004:G81C;ENSP00000398503:G81C;ENSP00000430005:G59C	ENSP00000370566:G81C	G	+	1	0	XG	2717735	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.121000	0.15667	0.213000	0.20722	-0.192000	0.12808	GGC		0.303	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		4	22	1	0	0.00024832	1	0.000252053	4	22				
C17orf80	55028	broad.mit.edu	37	17	71233036	71233036	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71233036A>G	ENST00000535032.2	+	2	1528	c.1415A>G	c.(1414-1416)tAc>tGc	p.Y472C	C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C|C17orf80_ENST00000359042.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|FAM104A_ENST00000583178.1_5'Flank|C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	472						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TATCCTGGTTACCTTGGACTA	0.552																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(1414-1416)tAc>tGc		chromosome 17 open reading frame 80							47.0	50.0	49.0					17																	71233036		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71233036A>G	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1415A>G	17.37:g.71233036A>G	ENSP00000440551:p.Tyr472Cys					C17orf80_ENST00000535032.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C	p.Y472C	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	1609	+			472					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.1415A>G	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.913766	0.72983	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.29	5.29	0.74685	.	0.000000	0.46758	D	0.000263	T	0.40909	0.1136	M	0.71581	2.175	0.40242	D	0.977972	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.37174	-0.9717	10	0.72032	D	0.01	-8.7091	13.2035	0.59782	1.0:0.0:0.0:0.0	.	472;472;472;472	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	C	472	ENSP00000255557:Y472C;ENSP00000351937:Y472C;ENSP00000268942:Y472C;ENSP00000396970:Y472C;ENSP00000440551:Y472C	ENSP00000255557:Y472C	Y	+	2	0	C17orf80	68744631	0.983000	0.35010	0.966000	0.40874	0.970000	0.65996	3.727000	0.54984	1.998000	0.58463	0.533000	0.62120	TAC		0.552	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		46	226	0	0	0	1	0	46	226				
ZBTB16	7704	broad.mit.edu	37	11	113934573	113934573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113934573G>A	ENST00000335953.4	+	2	931	c.551G>A	c.(550-552)aGc>aAc	p.S184N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	184					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTGGACCAGAGCCCTTCAGTC	0.552																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(550-552)aGc>aAc		zinc finger and BTB domain containing 16							56.0	58.0	57.0					11																	113934573		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934573G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.551G>A	11.37:g.113934573G>A	ENSP00000338157:p.Ser184Asn					ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	p.S184N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	931	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	184					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.551G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912424	0.52439	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.10288	2.89;2.89	5.67	4.74	0.60224	.	0.117422	0.85682	D	0.000000	T	0.09335	0.0230	L	0.27053	0.805	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15150	-1.0447	10	0.35671	T	0.21	-4.991	15.5488	0.76129	0.0695:0.0:0.9305:0.0	.	184;189	Q05516;Q59H43	ZBT16_HUMAN;.	N	184	ENSP00000338157:S184N;ENSP00000376721:S184N	ENSP00000309507:S184N	S	+	2	0	ZBTB16	113439783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.567000	0.73983	2.828000	0.97474	0.655000	0.94253	AGC		0.552	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		68	285	0	0	0	1	0	68	285				
PLK2	10769	broad.mit.edu	37	5	57753328	57753328	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57753328G>A	ENST00000274289.3	-	6	1096	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACACAGCCCAGGGCCCAAATG	0.368																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(796-798)Ctg>Ttg		polo-like kinase 2							91.0	89.0	90.0					5																	57753328		2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57753328G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.796C>T	5.37:g.57753328G>A						PLK2_ENST00000502671.1_5'UTR	p.L266L	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	6	1096	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	266			Protein kinase.		O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.796C>T	CCDS3974.1																																																																																				0.368	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		36	199	0	0	0	1	0	36	199				
DYM	54808	broad.mit.edu	37	18	46808509	46808509	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46808509A>T	ENST00000269445.6	-	10	1440	c.983T>A	c.(982-984)tTc>tAc	p.F328Y	DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	328					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTTGATCTGGAAGGCATGTGG	0.363																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(982-984)tTc>tAc		dymeclin							101.0	95.0	97.0					18																	46808509		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46808509A>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.983T>A	18.37:g.46808509A>T	ENSP00000269445:p.Phe328Tyr					DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	p.F328Y	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			10	1440	-			328					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.983T>A	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	A	33	5.220756	0.95139	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.82984	-1.67;-1.67	5.53	5.53	0.82687	.	0.087292	0.85682	D	0.000000	D	0.91140	0.7210	M	0.82056	2.57	0.80722	D	1	D;D;D	0.67145	0.99;0.991;0.996	P;D;P	0.74023	0.844;0.982;0.842	D	0.92346	0.5885	10	0.87932	D	0	-21.8803	15.9991	0.80275	1.0:0.0:0.0:0.0	.	138;150;328	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	Y	138;328	ENSP00000395942:F138Y;ENSP00000269445:F328Y	ENSP00000269445:F328Y	F	-	2	0	DYM	45062507	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.171000	0.94802	2.240000	0.73641	0.472000	0.43445	TTC		0.363	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		45	234	0	0	0	1	0	45	234				
FCN2	2220	broad.mit.edu	37	9	137777195	137777195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137777195G>A	ENST00000291744.6	+	5	422	c.412G>A	c.(412-414)Gac>Aac	p.D138N	FCN2_ENST00000350339.2_Missense_Mutation_p.D100N	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	138	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CATGGACACGGACGGAGGGGG	0.667																																						ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(298-300)Gac>Aac		ficolin (collagen/fibrinogen domain containing lectin) 2							34.0	35.0	35.0					9																	137777195		2203	4295	6498	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137777195G>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.412G>A	9.37:g.137777195G>A	ENSP00000291744:p.Asp138Asn					FCN2_ENST00000291744.6_Missense_Mutation_p.D138N	p.D100N	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	4	312	+		Myeloproliferative disorder(178;0.0333)	138			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.298G>A	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142895	0.57044	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.78595	-1.19;-1.19	3.43	3.43	0.39272	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.318052	0.21853	N	0.068150	D	0.88440	0.6437	M	0.88640	2.97	0.43412	D	0.995559	D;D	0.64830	0.994;0.989	D;D	0.70016	0.967;0.951	D	0.90157	0.4225	10	0.87932	D	0	.	12.333	0.55049	0.0:0.0:1.0:0.0	.	100;138	Q15485-2;Q15485	.;FCN2_HUMAN	N	100;138	ENSP00000291741:D100N;ENSP00000291744:D138N	ENSP00000291744:D138N	D	+	1	0	FCN2	136917016	1.000000	0.71417	0.048000	0.18961	0.396000	0.30629	6.579000	0.74036	1.441000	0.47550	0.462000	0.41574	GAC		0.667	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		24	129	0	0	0	1	0	24	129				
CAPN15	6650	broad.mit.edu	37	16	602440	602440	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:602440G>A	ENST00000219611.2	+	11	3010	c.2647G>A	c.(2647-2649)Gac>Aac	p.D883N	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	883					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGTCAGCTGCGACGTCATGCT	0.706																																						ENST00000219611.2																			0											c.(2647-2649)Gac>Aac		calpain 15							22.0	28.0	26.0					16																	602440		2171	4283	6454	SO:0001583	missense	6650							g.chr16:602440G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2647G>A	16.37:g.602440G>A	ENSP00000219611:p.Asp883Asn					LA16c-366D1.3_ENST00000565879.1_RNA	p.D883N	NM_005632.2	NP_005623.1					11	3010	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2647G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.843974	0.51164	.	.	ENSG00000103326	ENST00000219611	D	0.88741	-2.42	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	L	0.27053	0.805	0.54753	D	0.999984	D	0.89917	1.0	D	0.85130	0.997	D	0.85580	0.1239	10	0.10111	T	0.7	.	17.9079	0.88925	0.0:0.0:1.0:0.0	.	883	O75808	CAN15_HUMAN	N	883	ENSP00000219611:D883N	ENSP00000219611:D883N	D	+	1	0	SOLH	542441	1.000000	0.71417	0.879000	0.34478	0.878000	0.50629	7.618000	0.83043	2.580000	0.87095	0.556000	0.70494	GAC		0.706	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		38	151	0	0	0	1	0	38	151				
DAAM1	23002	broad.mit.edu	37	14	59797313	59797313	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59797313A>C	ENST00000395125.1	+	12	1490	c.1467A>C	c.(1465-1467)aaA>aaC	p.K489N	DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N|DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	489					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCTTAAATAAAATGAAAGAGA	0.448																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1465-1467)aaA>aaC		dishevelled associated activator of morphogenesis 1							90.0	88.0	89.0					14																	59797313		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797313A>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1467A>C	14.37:g.59797313A>C	ENSP00000378557:p.Lys489Asn					DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N|DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N	p.K489N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	12	1490	+			489					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1467A>C	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158223	0.38119	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.33216	1.42;1.42;1.42	5.98	1.19	0.21007	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.59912	1.85	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.16928	-1.0386	10	0.38643	T	0.18	.	8.9768	0.35941	0.5712:0.0:0.4288:0.0	.	489;489	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	N	489	ENSP00000354162:K489N;ENSP00000247170:K489N;ENSP00000378557:K489N	ENSP00000247170:K489N	K	+	3	2	DAAM1	58867066	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	2.139000	0.42149	0.181000	0.19994	-0.256000	0.11100	AAA		0.448	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		52	286	0	0	0	1	0	52	286				
TBC1D9	23158	broad.mit.edu	37	4	141543813	141543813	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543813G>T	ENST00000442267.2	-	21	3411	c.3337C>A	c.(3337-3339)Ctg>Atg	p.L1113M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1113							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGGCAGGGGCTCAACA	0.672																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3337-3339)Ctg>Atg		TBC1 domain family, member 9 (with GRAM domain)							32.0	39.0	36.0					4																	141543813		2004	4155	6159	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543813G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3337C>A	4.37:g.141543813G>T	ENSP00000411197:p.Leu1113Met						p.L1113M	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3411	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1113					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3337C>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040286	0.08148	.	.	ENSG00000109436	ENST00000442267	T	0.50813	0.73	4.86	4.01	0.46588	.	.	.	.	.	T	0.36799	0.0980	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.29598	0.104	T	0.31308	-0.9948	9	0.38643	T	0.18	.	4.3356	0.11085	0.2044:0.2051:0.5906:0.0	.	1113	Q6ZT07	TBCD9_HUMAN	M	1113	ENSP00000411197:L1113M	ENSP00000411197:L1113M	L	-	1	2	TBC1D9	141763263	0.965000	0.33210	0.285000	0.24819	0.513000	0.34164	3.633000	0.54295	1.018000	0.39521	0.655000	0.94253	CTG		0.672	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		53	272	1	0	1.51926e-22	1	1.72e-22	53	272				
ZBTB22	9278	broad.mit.edu	37	6	33284660	33284660	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284660C>A	ENST00000431845.2	-	2	185	c.34G>T	c.(34-36)Gca>Tca	p.A12S	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGGGAAGTGCTGCCCCACTG	0.652																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(34-36)Gca>Tca		zinc finger and BTB domain containing 22							21.0	24.0	23.0					6																	33284660		2203	4298	6501	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284660C>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.34G>T	6.37:g.33284660C>A	ENSP00000407545:p.Ala12Ser					ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S	p.A12S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	185	-			12					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.34G>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092534	0.20471	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.64438	3.4;3.4;-0.1	4.72	2.81	0.32909	.	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.22728	N	0.998807	B	0.30793	0.295	B	0.28553	0.091	T	0.06935	-1.0799	9	0.40728	T	0.16	.	5.9203	0.19078	0.0:0.6968:0.1944:0.1088	.	12	O15209	ZBT22_HUMAN	S	12	ENSP00000404403:A12S;ENSP00000407545:A12S;ENSP00000413172:A12S	ENSP00000404403:A12S	A	-	1	0	ZBTB22	33392638	0.605000	0.26941	1.000000	0.80357	0.974000	0.67602	0.552000	0.23376	1.187000	0.43000	0.643000	0.83706	GCA		0.652	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			12	165	1	0	5.50884e-06	1	5.65664e-06	12	165				
SHPRH	257218	broad.mit.edu	37	6	146264761	146264761	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146264761T>G	ENST00000367505.2	-	9	2020	c.1756A>C	c.(1756-1758)Aaa>Caa	p.K586Q	SHPRH_ENST00000367503.3_Missense_Mutation_p.K586Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	586					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTTTTCCTTTTTTTGTGGAT	0.373																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1756-1758)Aaa>Caa		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							255.0	234.0	240.0					6																	146264761		1909	4122	6031	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264761T>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1756A>C	6.37:g.146264761T>G	ENSP00000356475:p.Lys586Gln					SHPRH_ENST00000367505.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q	p.K586Q	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2154	-		Ovarian(120;0.0365)	586					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1756A>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	9.624	1.134688	0.21123	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.46	4.28	0.50868	DEAD-like helicase (1);	0.598979	0.16529	N	0.210466	T	0.29850	0.0746	N	0.14661	0.345	0.09310	N	1	B;B;B;P	0.43094	0.002;0.229;0.191;0.799	B;B;B;B	0.36845	0.009;0.175;0.109;0.234	T	0.08391	-1.0724	10	0.33940	T	0.23	-11.4061	2.5385	0.04720	0.1425:0.0804:0.2966:0.4805	.	475;586;586;475	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	Q	586;586;586;586;475	ENSP00000356475:K586Q;ENSP00000356473:K586Q;ENSP00000412797:K586Q;ENSP00000275233:K586Q	ENSP00000275233:K586Q	K	-	1	0	SHPRH	146306454	0.920000	0.31207	0.010000	0.14722	0.097000	0.18754	2.129000	0.42055	0.997000	0.38969	0.528000	0.53228	AAA		0.373	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		152	636	0	0	0	1	0	152	636				
ASTN1	460	broad.mit.edu	37	1	176992602	176992602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992602G>A	ENST00000367654.3	-	7	1587	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	459	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGTCCATGGCCCAGGGTCC	0.627																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1375-1377)gCc>gTc		astrotactin 1							34.0	31.0	32.0					1																	176992602		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992602G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1376C>T	1.37:g.176992602G>A	ENSP00000356626:p.Ala459Val					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V	p.A459V			O14525	ASTN1_HUMAN			7	1389	-			459			EGF-like 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1376C>T		.	.	.	.	.	.	.	.	.	.	G	9.922	1.212440	0.22289	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.12569	2.67;3.09;3.09;2.67	5.91	5.91	0.95273	.	0.106321	0.64402	D	0.000005	T	0.06508	0.0167	N	0.02916	-0.46	0.53005	D	0.999964	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.09377	0.004;0.004;0.004	T	0.23440	-1.0188	10	0.02654	T	1	-30.7684	19.8914	0.96931	0.0:0.0:1.0:0.0	.	459;459;459	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	459	ENSP00000356629:A459V;ENSP00000354536:A459V;ENSP00000356626:A459V;ENSP00000395041:A459V	ENSP00000354536:A459V	A	-	2	0	ASTN1	175259225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.109000	0.77062	2.813000	0.96785	0.655000	0.94253	GCC		0.627	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		28	73	0	0	0	1	0	28	73				
GFRA2	2675	broad.mit.edu	37	8	21608179	21608179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21608179G>A	ENST00000524240.1	-	4	1365	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S|GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S|GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	239					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGCAGCTGGGCAGGATGGTT	0.662																																						ENST00000524240.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(715-717)Ccc>Tcc		GDNF family receptor alpha 2							35.0	40.0	38.0					8																	21608179		2173	4269	6442	SO:0001583	missense	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21608179G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.715C>T	8.37:g.21608179G>A	ENSP00000428518:p.Pro239Ser					GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S|GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S|GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S	p.P239S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	4	1365	-			239					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	c.715C>T	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530210	0.85706	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	4.78	4.78	0.61160	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;0.986;1.0	P;P;D	0.75020	0.906;0.726;0.985	D	0.84576	0.0658	10	0.87932	D	0	-23.9515	17.4162	0.87500	0.0:0.0:1.0:0.0	.	106;134;239	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	S	239;134;239;106;134;239	ENSP00000428518:P239S;ENSP00000383592:P134S;ENSP00000429445:P239S;ENSP00000429206:P106S;ENSP00000429979:P134S;ENSP00000428721:P239S	ENSP00000383592:P134S	P	-	1	0	GFRA2	21652459	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.869000	0.99810	2.199000	0.70637	0.313000	0.20887	CCC		0.662	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		27	181	0	0	0	1	0	27	181				
ACTL9	284382	broad.mit.edu	37	19	8808659	8808659	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808659G>A	ENST00000324436.3	-	1	513	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	131						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTCCAGCAGGTGGCGCCAGA	0.697																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(391-393)caC>caT		actin-like 9							32.0	38.0	36.0					19																	8808659		2201	4295	6496	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808659G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.393C>T	19.37:g.8808659G>A							p.H131H	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	513	-			131					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.393C>T	CCDS12207.1																																																																																				0.697	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		72	287	0	0	0	1	0	72	287				
CEP78	84131	broad.mit.edu	37	9	80866840	80866840	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866840A>G	ENST00000424347.2	+	9	1375	c.1086A>G	c.(1084-1086)aaA>aaG	p.K362K	CEP78_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000277082.5_Silent_p.K362K|CEP78_ENST00000376597.4_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	362					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTACAAAGAAACCTGTAAGTA	0.433																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1084-1086)aaA>aaG		centrosomal protein 78kDa							46.0	49.0	48.0					9																	80866840		1880	4115	5995	SO:0001819	synonymous_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80866840A>G	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1086A>G	9.37:g.80866840A>G						CEP78_ENST00000277082.5_Silent_p.K362K|CEP78_ENST00000376597.4_Silent_p.K363K|CEP78_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K	p.K362K			Q5JTW2	CEP78_HUMAN			9	1375	+			362					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37	c.1086A>G																																																																																					0.433	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		12	64	0	0	0	1	0	12	64				
GAPVD1	26130	broad.mit.edu	37	9	128099772	128099772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099772C>T	ENST00000495955.1	+	17	3069	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	927					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAATGAAGAGCGAGAACTCCC	0.537																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2779-2781)Cga>Tga		GTPase activating protein and VPS9 domains 1							72.0	71.0	72.0					9																	128099772		2203	4300	6503	SO:0001587	stop_gained	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099772C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2779C>T	9.37:g.128099772C>T	ENSP00000419063:p.Arg927*					GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*	p.R927*			Q14C86	GAPD1_HUMAN			15	2939	+			927					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37	c.2779C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.005336|9.005336	0.99033|0.99033	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	5.8|5.8	3.8|3.8	0.43715|0.43715	.|.	.|0.100698	.|0.64402	.|D	.|0.000003	T|.	0.35740|.	0.0942|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37934|.	-0.9684|.	3|.	.|0.06891	.|T	.|0.86	.|.	11.9073|11.9073	0.52719|0.52719	0.5343:0.4657:0.0:0.0|0.5343:0.4657:0.0:0.0	.|.	.|.	.|.	.|.	V|X	763|927;954;927;901;906;927;927;927;906	.|.	.|ENSP00000265956:R901X	A|R	+|+	2|1	0|2	GAPVD1|GAPVD1	127139593|127139593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	1.862000|1.862000	0.39448|0.39448	1.450000|1.450000	0.47717|0.47717	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.537	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			51	272	0	0	0	1	0	51	272				
SLC41A1	254428	broad.mit.edu	37	1	205779272	205779272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779272G>T	ENST00000367137.3	-	2	1312	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	100					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTACTTGCAGCCCGATGGAA	0.602																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(298-300)Ctg>Atg		solute carrier family 41 (magnesium transporter), member 1							137.0	126.0	130.0					1																	205779272		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779272G>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.298C>A	1.37:g.205779272G>T	ENSP00000356105:p.Leu100Met						p.L100M	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1312	-	Breast(84;0.0799)		100					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.298C>A	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003766	0.74932	.	.	ENSG00000133065	ENST00000367137	T	0.32023	1.47	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.56769	1.78	0.58432	D	0.999997	D	0.61697	0.99	P	0.61800	0.894	T	0.43988	-0.9357	10	0.44086	T	0.13	-7.8851	14.6033	0.68456	0.0714:0.0:0.9286:0.0	.	100	Q8IVJ1	S41A1_HUMAN	M	100	ENSP00000356105:L100M	ENSP00000356105:L100M	L	-	1	2	SLC41A1	204045895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.473000	0.66774	1.379000	0.46325	0.555000	0.69702	CTG		0.602	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			133	414	1	0	2.77834e-61	1	3.49734e-61	133	414				
FASN	2194	broad.mit.edu	37	17	80037394	80037394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80037394G>A	ENST00000306749.2	-	42	7455	c.7237C>T	c.(7237-7239)Cgc>Tgc	p.R2413C	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2413	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCTCCTGGCGGTCCAGGCCC	0.637																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(7237-7239)Cgc>Tgc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						67.0	58.0	61.0					17																	80037394		2203	4298	6501	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80037394G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7237C>T	17.37:g.80037394G>A	ENSP00000304592:p.Arg2413Cys					FASN_ENST00000579758.1_5'UTR	p.R2413C	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		42	7455	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2413			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.7237C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484493	0.63962	.	.	ENSG00000169710	ENST00000306749	T	0.27402	1.67	4.16	2.13	0.27403	Fatty acid synthase, domain 2 (1);Thioesterase (1);	0.618907	0.15836	N	0.242275	T	0.48059	0.1479	M	0.70842	2.15	0.47994	D	0.999565	D	0.76494	0.999	P	0.61477	0.889	T	0.46442	-0.9191	10	0.66056	D	0.02	-12.1525	10.2149	0.43162	0.166:0.0:0.834:0.0	.	2413	P49327	FAS_HUMAN	C	2413	ENSP00000304592:R2413C	ENSP00000304592:R2413C	R	-	1	0	FASN	77630683	1.000000	0.71417	0.410000	0.26471	0.899000	0.52679	4.264000	0.58859	0.500000	0.27991	0.561000	0.74099	CGC		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		86	368	0	0	0	1	0	86	368				
CASC5	57082	broad.mit.edu	37	15	40920867	40920867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40920867C>T	ENST00000346991.5	+	13	6042	c.5652C>T	c.(5650-5652)agC>agT	p.S1884S	CASC5_ENST00000399668.2_Silent_p.S1858S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1884	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTGAAGAGAGCTTGAGGGAGG	0.313																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(5650-5652)agC>agT		cancer susceptibility candidate 5							122.0	105.0	110.0					15																	40920867		1803	4073	5876	SO:0001819	synonymous_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40920867C>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5652C>T	15.37:g.40920867C>T						CASC5_ENST00000399668.2_Silent_p.S1858S	p.S1884S			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	13	6042	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1884			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	c.5652C>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020658	0.19433	.	.	ENSG00000137812	ENST00000532406	.	.	.	5.75	1.64	0.23874	.	.	.	.	.	T	0.57475	0.2056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48811	-0.9002	4	.	.	.	.	8.9461	0.35760	0.0:0.5138:0.0:0.4862	.	.	.	.	V	65	.	.	A	+	2	0	CASC5	38708159	0.961000	0.32948	0.995000	0.50966	0.980000	0.70556	-0.104000	0.10923	0.051000	0.15978	-0.268000	0.10319	GCT		0.313	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		10	401	0	0	0	1	0	10	401				
ATP6V0A1	535	broad.mit.edu	37	17	40646415	40646415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40646415G>A	ENST00000343619.4	+	12	1361	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	413					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCGGTCATGGCATTTTAATG	0.388																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1237-1239)gGc>gAc		ATPase, H+ transporting, lysosomal V0 subunit a1							186.0	166.0	173.0					17																	40646415		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40646415G>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1238G>A	17.37:g.40646415G>A	ENSP00000342951:p.Gly413Asp					ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D	p.G413D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	12	1361	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	413					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1238G>A	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419759	0.96111	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.98199	4.17	0.80722	D	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;1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-13.4495	19.6278	0.95687	0.0:0.0:1.0:0.0	.	370;370;420;413;413	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	D	413;413;413;420;370;59	ENSP00000342951:G413D;ENSP00000444676:G413D;ENSP00000377415:G413D;ENSP00000264649:G420D;ENSP00000443991:G370D;ENSP00000446377:G59D	ENSP00000264649:G420D	G	+	2	0	ATP6V0A1	37899941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.801000	0.99128	2.646000	0.89796	0.561000	0.74099	GGC		0.388	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		74	313	0	0	0	1	0	74	313				
NR1H4	9971	broad.mit.edu	37	12	100930822	100930822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930822C>A	ENST00000551379.1	+	6	986	c.958C>A	c.(958-960)Cca>Aca	p.P320T	NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T|NR1H4_ENST00000548884.1_Missense_Mutation_p.P306T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	320	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AAAAAAGCTACCAGGTATTTT	0.284																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(916-918)Cca>Aca		nuclear receptor subfamily 1, group H, member 4							53.0	64.0	60.0					12																	100930822		2183	4278	6461	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100930822C>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.958C>A	12.37:g.100930822C>A	ENSP00000447149:p.Pro320Thr					NR1H4_ENST00000551379.1_Missense_Mutation_p.P320T|NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T	p.P306T	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			8	1457	+			320			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.916C>A	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773555	0.69992	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	M	0.90705	3.14	0.80722	D	1	P;P;P;P;P	0.49185	0.764;0.92;0.597;0.649;0.919	B;P;B;B;P	0.61533	0.294;0.89;0.228;0.317;0.69	D	0.98789	1.0735	10	0.87932	D	0	.	18.1305	0.89599	0.0:1.0:0.0:0.0	.	259;320;316;310;306	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	T	306;310;259;320;316	ENSP00000448506:P306T;ENSP00000376712:P310T;ENSP00000448978:P259T;ENSP00000447149:P320T;ENSP00000188403:P316T	ENSP00000188403:P316T	P	+	1	0	NR1H4	99454953	1.000000	0.71417	0.964000	0.40570	0.555000	0.35460	7.190000	0.77755	2.318000	0.78349	0.585000	0.79938	CCA		0.284	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		89	445	1	0	1.55023e-36	1	1.85648e-36	89	445				
ADAMTS17	170691	broad.mit.edu	37	15	100514630	100514630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100514630G>A	ENST00000268070.4	-	22	3370	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CTD-3076O17.2_ENST00000559400.1_RNA|CTD-3076O17.1_ENST00000528696.3_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1089						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1089C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTGGCTGGCGCATCTTGTTT	0.592																																						ENST00000268070.4																			1	Substitution - Missense(1)	p.R1089C(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(3265-3267)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 17							63.0	60.0	61.0					15																	100514630		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100514630G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.3265C>T	15.37:g.100514630G>A	ENSP00000268070:p.Arg1089Cys						p.R1089C	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	22	3370	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		1089					Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.3265C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329595	0.95733	.	.	ENSG00000140470	ENST00000268070	T	0.62788	0.0	5.7	5.7	0.88788	.	0.355468	0.27482	N	0.019170	T	0.49440	0.1557	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.59225	-0.7494	10	0.56958	D	0.05	.	19.8288	0.96627	0.0:0.0:1.0:0.0	.	1089	Q8TE56	ATS17_HUMAN	C	1089	ENSP00000268070:R1089C	ENSP00000268070:R1089C	R	-	1	0	ADAMTS17	98332153	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.006000	0.76329	2.679000	0.91253	0.650000	0.86243	CGC		0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		14	461	0	0	0	1	0	14	461				
UGT3A1	133688	broad.mit.edu	37	5	35957307	35957307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35957307G>A	ENST00000274278.3	-	5	1415	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	353						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCACTCTGAGGAAGCCAGTC	0.498																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1057-1059)cCt>cTt		UDP glycosyltransferase 3 family, polypeptide A1							98.0	85.0	90.0					5																	35957307		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957307G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1058C>T	5.37:g.35957307G>A	ENSP00000274278:p.Pro353Leu					UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L	p.P353L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1415	-	all_lung(31;0.000197)		353					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1058C>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.740034	0.49045	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	D;D;D	0.83163	-1.69;-1.69;-1.69	3.01	3.01	0.34805	.	0.076413	0.52532	D	0.000061	D	0.93527	0.7934	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.986;0.998;0.998	D	0.95307	0.8408	10	0.87932	D	0	.	13.5811	0.61903	0.0:0.0:1.0:0.0	.	319;353;353	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	L	353;353;319	ENSP00000274278:P353L;ENSP00000427079:P353L;ENSP00000426100:P319L	ENSP00000274278:P353L	P	-	2	0	UGT3A1	35993064	1.000000	0.71417	0.997000	0.53966	0.243000	0.25628	7.165000	0.77544	1.615000	0.50252	0.467000	0.42956	CCT		0.498	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		32	183	0	0	0	1	0	32	183				
PCDH10	57575	broad.mit.edu	37	4	134073466	134073466	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073466C>T	ENST00000264360.5	+	1	2997	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	724					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGTTGGGCTCGGTGTCCTTC	0.602																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2170-2172)tCg>tTg		protocadherin 10							97.0	108.0	105.0					4																	134073466		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073466C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2171C>T	4.37:g.134073466C>T	ENSP00000264360:p.Ser724Leu						p.S724L	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2997	+			724					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2171C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606999	0.66558	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	4.48	0.54585	.	0.000000	0.40728	N	0.001024	T	0.60090	0.2242	L	0.39326	1.205	0.80722	D	1	D;P	0.76494	0.999;0.876	D;B	0.72625	0.978;0.425	T	0.61637	-0.7022	10	0.49607	T	0.09	.	16.9557	0.86258	0.0:1.0:0.0:0.0	.	724;724	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	724	ENSP00000264360:S724L	ENSP00000264360:S724L	S	+	2	0	PCDH10	134292916	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.487000	0.66863	2.322000	0.78497	0.561000	0.74099	TCG		0.602	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		105	363	0	0	0	1	0	105	363				
ADHFE1	137872	broad.mit.edu	37	8	67356848	67356848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67356848C>T	ENST00000396623.3	+	5	249	c.218C>T	c.(217-219)gCt>gTt	p.A73V	ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	73					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AACATGGGTGCTAAAAATGTG	0.423																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(217-219)gCt>gTt		alcohol dehydrogenase, iron containing, 1							181.0	174.0	176.0					8																	67356848		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67356848C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.218C>T	8.37:g.67356848C>T	ENSP00000379865:p.Ala73Val					ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V	p.A73V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		5	249	+		Lung NSC(129;0.197)	73					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.218C>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	34	5.291775	0.95546	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.78	5.78	0.91487	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.48935	1.535	0.80722	D	1	B	0.27700	0.186	B	0.33121	0.158	T	0.22730	-1.0208	10	0.38643	T	0.18	-0.8193	20.0215	0.97504	0.0:1.0:0.0:0.0	.	73	Q8IWW8	HOT_HUMAN	V	8;73;73;25	ENSP00000428055:A8V;ENSP00000368695:A73V;ENSP00000379865:A73V;ENSP00000407115:A25V	ENSP00000368695:A73V	A	+	2	0	ADHFE1	67519402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	2.743000	0.94032	0.655000	0.94253	GCT		0.423	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		133	624	0	0	0	1	0	133	624				
RFTN2	130132	broad.mit.edu	37	2	198511301	198511301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198511301C>T	ENST00000295049.4	-	2	765	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	77					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAATAGCCCCGACAATATAT	0.378																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(229-231)Ggg>Agg		raftlin family member 2							116.0	117.0	116.0					2																	198511301		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198511301C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.229G>A	2.37:g.198511301C>T	ENSP00000295049:p.Gly77Arg						p.G77R	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			2	765	-			77					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.229G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442193	0.83993	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.32023	1.47;1.47	5.39	4.5	0.54988	.	0.474569	0.23536	N	0.047134	T	0.47358	0.1441	L	0.51422	1.61	0.39911	D	0.974022	D	0.89917	1.0	D	0.72338	0.977	T	0.47315	-0.9127	10	0.87932	D	0	-13.4825	12.182	0.54218	0.0:0.9205:0.0:0.0795	.	77	Q52LD8	RFTN2_HUMAN	R	77	ENSP00000295049:G77R;ENSP00000398128:G77R	ENSP00000295049:G77R	G	-	1	0	RFTN2	198219546	0.387000	0.25188	0.999000	0.59377	0.943000	0.58893	2.256000	0.43231	2.687000	0.91594	0.585000	0.79938	GGG		0.378	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		14	427	0	0	0	1	0	14	427				
ATAD3A	55210	broad.mit.edu	37	1	1455928	1455928	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1455928G>A	ENST00000378755.5	+	7	919	c.825G>A	c.(823-825)agG>agA	p.R275R	ATAD3A_ENST00000536055.1_Splice_Site_p.R148R|ATAD3A_ENST00000378756.3_Splice_Site_p.R227R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	275					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TTCCCCGCAGGACGGCTGGCA	0.587																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.e7-1		ATPase family, AAA domain containing 3A							111.0	94.0	100.0					1																	1455928		2203	4298	6501	SO:0001630	splice_region_variant	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1455928G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.825-1G>A	1.37:g.1455928G>A						ATAD3A_ENST00000378756.3_Splice_Site_p.R227_splice|ATAD3A_ENST00000536055.1_Splice_Site_p.R148_splice	p.R275_splice	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	7	919	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	275					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Splice_Site	SNP	ENST00000378755.5	37	c.824_splice	CCDS31.1	.	.	.	.	.	.	.	.	.	.	-	9.381	1.073035	0.20147	.	.	ENSG00000197785	ENST00000339113	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71702	-0.4513	4	.	.	.	.	16.3539	0.83228	0.0:0.0:1.0:0.0	.	.	.	.	N	213	.	.	D	+	1	0	ATAD3A	1445791	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.720000	0.84759	2.185000	0.69588	0.561000	0.74099	GAC		0.587	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188	Silent	102	319	0	0	0	1	0	102	319				
GAN	8139	broad.mit.edu	37	16	81385228	81385228	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81385228A>G	ENST00000568107.2	+	2	370	c.208A>G	c.(208-210)Act>Gct	p.T70A		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGATGGATCAACTTATAAGAT	0.328																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(208-210)Act>Gct		gigaxonin							118.0	110.0	113.0					16																	81385228		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81385228A>G	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.208A>G	16.37:g.81385228A>G	ENSP00000476795:p.Thr70Ala						p.T70A	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			2	370	+		Colorectal(91;0.153)	70			BTB.			Missense_Mutation	SNP	ENST00000568107.2	37	c.208A>G	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239798	0.10023	.	.	ENSG00000127688	ENST00000248272	T	0.67171	-0.25	5.88	5.88	0.94601	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.197356	0.53938	D	0.000046	T	0.46347	0.1388	N	0.04297	-0.235	0.37084	D	0.899104	B	0.02656	0.0	B	0.01281	0.0	T	0.47971	-0.9075	10	0.29301	T	0.29	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	70	Q9H2C0	GAN_HUMAN	A	70	ENSP00000248272:T70A	ENSP00000248272:T70A	T	+	1	0	GAN	79942729	0.960000	0.32886	1.000000	0.80357	0.995000	0.86356	3.500000	0.53318	2.246000	0.74042	0.533000	0.62120	ACT		0.328	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			102	286	0	0	0	1	0	102	286				
CCDC186	55088	broad.mit.edu	37	10	115904338	115904338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115904338T>G	ENST00000369287.3	-	6	1405	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	C10orf118_ENST00000543782.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		380										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCCTTTAATTTGTCTATTTC	0.299																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(1138-1140)aAa>aCa		chromosome 10 open reading frame 118							196.0	181.0	186.0					10																	115904338		2202	4299	6501	SO:0001583	missense	55088							g.chr10:115904338T>G																												ENST00000369287.3:c.1139A>C	10.37:g.115904338T>G	ENSP00000358293:p.Lys380Thr					C10orf118_ENST00000543782.1_5'UTR	p.K380T	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	6	1405	-		Colorectal(252;0.172)|Breast(234;0.188)	380					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.1139A>C	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328828|4.328828	0.81690|0.81690	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000430353|ENST00000428953	T|.	0.55760|.	0.5|.	5.42|5.42	4.28|4.28	0.50868|0.50868	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71584|0.71584	0.3357|0.3357	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.70806|0.70806	-0.4772|-0.4772	10|5	0.48119|.	T|.	0.1|.	.|.	9.785|9.785	0.40670|0.40670	0.0:0.0784:0.0:0.9216|0.0:0.0784:0.0:0.9216	.|.	380|.	Q7Z3E2|.	CJ118_HUMAN|.	T|H	380;486|8	ENSP00000358293:K380T|.	ENSP00000358293:K380T|.	K|Q	-|-	2|3	0|2	C10orf118|C10orf118	115894328|115894328	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.989000|0.989000	0.77384|0.77384	4.946000|4.946000	0.63576|0.63576	0.900000|0.900000	0.36469|0.36469	0.456000|0.456000	0.33151|0.33151	AAA|CAA		0.299	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			34	299	0	0	0	1	0	34	299				
NRD1	4898	broad.mit.edu	37	1	52289401	52289401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52289401C>A	ENST00000354831.7	-	9	1487	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000352171.7_Missense_Mutation_p.R365I|NRD1_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	364					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTCTCTCAATCTAGCATGTGT	0.323																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1297-1299)aGa>aTa		nardilysin (N-arginine dibasic convertase)							101.0	98.0	99.0					1																	52289401		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52289401C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1298G>T	1.37:g.52289401C>A	ENSP00000346890:p.Arg433Ile					NRD1_ENST00000352171.7_Missense_Mutation_p.R365I|NRD1_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000485608.1_5'UTR	p.R433I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			9	1487	-			364					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1298G>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891953	0.72524	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.38	5.38	0.77491	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.48986	1.54	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.71184	0.933;0.96;0.972	T	0.45338	-0.9268	10	0.48119	T	0.1	-10.9322	19.1375	0.93433	0.0:1.0:0.0:0.0	.	365;364;433	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	I	365;433;301;365;233	ENSP00000262679:R365I;ENSP00000346890:R433I;ENSP00000444416:R301I;ENSP00000442262:R233I	ENSP00000262679:R365I	R	-	2	0	NRD1	52061989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.671000	0.68095	2.532000	0.85374	0.655000	0.94253	AGA		0.323	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		20	256	1	0	7.87624e-14	1	8.52853e-14	20	256				
OR4X2	119764	broad.mit.edu	37	11	48266694	48266694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48266694G>T	ENST00000302329.3	+	1	87	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCCCAACCAGGAGGTGCAGA	0.448																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(37-39)caG>caT		olfactory receptor, family 4, subfamily X, member 2							179.0	148.0	159.0					11																	48266694		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266694G>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.39G>T	11.37:g.48266694G>T	ENSP00000307751:p.Gln13His						p.Q13H	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	87	+			13					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.39G>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	5.573	0.290542	0.10567	.	.	ENSG00000172208	ENST00000302329	T	0.02974	4.09	5.37	-0.423	0.12325	.	1.300900	0.05306	N	0.523901	T	0.03053	0.0090	N	0.16602	0.42	0.09310	N	1	P	0.38148	0.62	B	0.40659	0.336	T	0.49476	-0.8936	10	0.87932	D	0	.	8.6846	0.34229	0.4934:0.0:0.5066:0.0	.	13	Q8NGF9	OR4X2_HUMAN	H	13	ENSP00000307751:Q13H	ENSP00000307751:Q13H	Q	+	3	2	OR4X2	48223270	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-2.585000	0.00903	0.000000	0.14550	-0.143000	0.13931	CAG		0.448	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		128	527	1	0	5.03133e-54	1	6.27689e-54	128	527				
AKNAD1	254268	broad.mit.edu	37	1	109394773	109394773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109394773G>A	ENST00000370001.3	-	2	782	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	172						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCGGGTTGAGTTGGTCAGTG	0.423																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(514-516)Ctc>Ttc		AKNA domain containing 1							62.0	64.0	63.0					1																	109394773		2202	4295	6497	SO:0001583	missense	254268							g.chr1:109394773G>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.514C>T	1.37:g.109394773G>A	ENSP00000359018:p.Leu172Phe					AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F|AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F|AKNAD1_ENST00000357393.4_Intron	p.L172F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			2	782	-			172					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.514C>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511189	0.44660	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.09817	2.96;2.99;2.94	5.77	0.065	0.14355	.	0.955217	0.08711	N	0.904928	T	0.03348	0.0097	M	0.63428	1.95	0.09310	N	1	B	0.30326	0.276	B	0.30572	0.117	T	0.44205	-0.9343	10	0.31617	T	0.26	-0.2122	2.1848	0.03883	0.1509:0.3045:0.3494:0.1952	.	172	Q5T1N1	AKND1_HUMAN	F	172	ENSP00000359018:L172F;ENSP00000359011:L172F;ENSP00000359012:L172F	ENSP00000359011:L172F	L	-	1	0	AKNAD1	109196296	0.000000	0.05858	0.041000	0.18516	0.051000	0.14879	-0.152000	0.10159	0.362000	0.24319	-0.878000	0.02970	CTC		0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		119	419	0	0	0	1	0	119	419				
MUC1	4582	broad.mit.edu	37	1	155160512	155160512	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155160512A>T	ENST00000368395.1	-	4	987	c.916T>A	c.(916-918)Ttt>Att	p.F306I	MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1086	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.				cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCCAGAAAACCCCCTTGT	0.532			T	IGH@	B-NHL																																	ENST00000368395.1				Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(916-918)Ttt>Att		mucin 1, cell surface associated							101.0	116.0	111.0					1																	155160512		2203	4300	6503	SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155160512A>T	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.916T>A	1.37:g.155160512A>T	ENSP00000357380:p.Phe306Ile					MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000368396.4_Intron	p.F306I	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	987	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		1086			42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.916T>A	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013268	0.75161	.	.	ENSG00000185499	ENST00000368395;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000368393;ENST00000425082;ENST00000368390;ENST00000337604	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.33	4.33	0.51752	.	0.000000	0.36932	N	0.002340	T	0.53610	0.1807	M	0.75264	2.295	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;B;B;P;B;D;D;D;D;B;P	0.71674	0.991;0.982;0.992;0.984;0.983;0.998;0.996;0.993;0.975;0.959;0.273;0.053;0.871;0.094;0.997;0.979;0.987;0.994;0.005;0.845	P;P;P;P;D;D;D;D;P;P;B;B;P;B;D;P;P;P;B;D	0.74023	0.854;0.819;0.865;0.786;0.945;0.982;0.959;0.942;0.882;0.755;0.16;0.16;0.622;0.226;0.917;0.87;0.864;0.89;0.025;0.931	T	0.50329	-0.8841	10	0.72032	D	0.01	-12.3831	9.9079	0.41388	1.0:0.0:0.0:0.0	.	1095;86;1083;104;1074;113;392;392;306;113;72;69;74;48;95;104;104;95;60;86	P15941-2;B6ECB2;P15941-3;P15941-8;P15941-4;B6ECA3;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID6;A5YRV0;A5YRU8;A5YRV2;A5YRU7;A6ZID9;B1AVR0;Q0VAP5;B1AVQ7;Q0VAP6	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	306;95;60;95;104;392;86;104	ENSP00000357380:F306I;ENSP00000357377:F95I;ENSP00000389098:F60I;ENSP00000388172:F95I;ENSP00000357378:F104I;ENSP00000357375:F86I;ENSP00000338983:F104I	ENSP00000338983:F104I	F	-	1	0	MUC1	153427136	0.001000	0.12720	0.059000	0.19551	0.222000	0.24845	0.840000	0.27600	1.606000	0.50161	0.383000	0.25322	TTT		0.532	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456		218	653	0	0	0	1	0	218	653				
ELOVL7	79993	broad.mit.edu	37	5	60053435	60053435	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:60053435A>G	ENST00000508821.1	-	8	851	c.537T>C	c.(535-537)gcT>gcC	p.A179A	ELOVL7_ENST00000425382.1_Silent_p.A179A|ELOVL7_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000505959.1_Silent_p.A166A	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	179					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CTACATGTACAGCTGTATTTA	0.383																																						ENST00000505959.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9						c.(496-498)gcT>gcC		ELOVL fatty acid elongase 7							80.0	79.0	79.0					5																	60053435		2203	4300	6503	SO:0001819	synonymous_variant	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60053435A>G	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.537T>C	5.37:g.60053435A>G						ELOVL7_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000508821.1_Silent_p.A179A|ELOVL7_ENST00000425382.1_Silent_p.A179A	p.A166A			A1L3X0	ELOV7_HUMAN			10	1024	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	179					Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	37	c.498T>C	CCDS34164.1																																																																																				0.383	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			58	233	0	0	0	1	0	58	233				
TCF25	22980	broad.mit.edu	37	16	89977554	89977554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977554C>A	ENST00000263346.8	+	18	1995	c.1939C>A	c.(1939-1941)Ctg>Atg	p.L647M	RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank|TCF25_ENST00000263347.7_Missense_Mutation_p.A451D	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	647					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAGGCTGATGCTGGCTGTGCG	0.667																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(1939-1941)Ctg>Atg		transcription factor 25 (basic helix-loop-helix)							55.0	52.0	53.0					16																	89977554		2195	4297	6492	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89977554C>A	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1939C>A	16.37:g.89977554C>A	ENSP00000263346:p.Leu647Met					TCF25_ENST00000263347.7_Missense_Mutation_p.A451D|RP11-566K11.7_ENST00000570217.1_RNA	p.L647M	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	18	1995	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	647					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1939C>A	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.401336|4.401336	0.83120|0.83120	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263347|ENST00000263346	.|.	.|.	.|.	5.21|5.21	0.701|0.701	0.18104|0.18104	.|.	.|0.472377	.|0.22676	.|N	.|0.057014	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.25369|0.25369	N|N	0.988718|0.988718	B|B	0.09022|0.24675	0.002|0.109	B|B	0.10450|0.15484	0.005|0.013	T|T	0.11155|0.11155	-1.0599|-1.0599	8|9	0.87932|0.48119	D|T	0|0.1	.|.	3.7855|3.7855	0.08698|0.08698	0.1298:0.3136:0.4523:0.1044|0.1298:0.3136:0.4523:0.1044	.|.	451|647	Q9H384|Q9BQ70	.|TCF25_HUMAN	D|M	451|647	.|.	ENSP00000263347:A451D|ENSP00000263346:L647M	A|L	+|+	2|1	0|2	TCF25|TCF25	88505055|88505055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.958000|2.958000	0.49145|0.49145	0.184000|0.184000	0.20083|0.20083	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.667	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		130	285	1	0	2.67195e-58	1	3.35052e-58	130	285				
ARPP21	10777	broad.mit.edu	37	3	35748539	35748539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:35748539C>T	ENST00000187397.4	+	10	1216	c.760C>T	c.(760-762)Cga>Tga	p.R254*	ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R254*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	254	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TATCTTGAAGCGAGATAACTC	0.378																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(760-762)Cga>Tga		cAMP-regulated phosphoprotein, 21kDa							102.0	107.0	105.0					3																	35748539		2203	4300	6503	SO:0001587	stop_gained	10777					cytoplasm	nucleic acid binding	g.chr3:35748539C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.760C>T	3.37:g.35748539C>T	ENSP00000187397:p.Arg254*					ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R254*	p.R254*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			10	1216	+			254					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	37	c.760C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	41	8.576318	0.98870	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.019	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000187397:R254X	R	+	1	2	ARPP21	35723543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.411000	0.34702	2.880000	0.98712	0.650000	0.86243	CGA		0.378	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		16	416	0	0	0	1	0	16	416				
PKIB	5570	broad.mit.edu	37	6	123046319	123046319	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123046319G>A	ENST00000368448.1	+	6	843	c.216G>A	c.(214-216)aaG>aaA	p.K72K	PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000392490.1_Silent_p.K72K|PKIB_ENST00000354275.2_Silent_p.K72K|PKIB_ENST00000258014.3_Silent_p.K79K			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	72							cAMP-dependent protein kinase inhibitor activity (GO:0004862)			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		AATTGGAAAAGCCTCAAAATG	0.294																																						ENST00000392490.1																			0				large_intestine(3)|lung(1)	4						c.(214-216)aaG>aaA		protein kinase (cAMP-dependent, catalytic) inhibitor beta							93.0	86.0	89.0					6																	123046319		2202	4300	6502	SO:0001819	synonymous_variant	0						cAMP-dependent protein kinase inhibitor activity	g.chr6:123046319G>A		CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.216G>A	6.37:g.123046319G>A						PKIB_ENST00000354275.2_Silent_p.K72K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000258014.3_Silent_p.K79K|PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000368448.1_Silent_p.K72K	p.K72K	NM_032471.5	NP_115860.1	Q9C010	IPKB_HUMAN		GBM - Glioblastoma multiforme(226;0.164)	4	613	+			72					B2RCK2|Q567T9|Q5T0Z7	Silent	SNP	ENST00000368448.1	37	c.216G>A	CCDS5126.1																																																																																				0.294	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042035.1			13	59	0	0	0	1	0	13	59				
MAU2	23383	broad.mit.edu	37	19	19458130	19458130	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19458130C>T	ENST00000392313.6	+	13	1442	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	MAU2_ENST00000262815.8_Silent_p.N421N	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	421					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TCGTCACCAACCTGGCGAGTG	0.542																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1261-1263)aaC>aaT		MAU2 sister chromatid cohesion factor							151.0	128.0	136.0					19																	19458130		2203	4300	6503	SO:0001819	synonymous_variant	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19458130C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1263C>T	19.37:g.19458130C>T						MAU2_ENST00000262815.8_Silent_p.N421N	p.N421N	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			13	1309	+			421					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	c.1263C>T	CCDS32969.2																																																																																				0.542	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		59	293	0	0	0	1	0	59	293				
TCF7	6932	broad.mit.edu	37	5	133473798	133473798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133473798G>A	ENST00000321584.4	+	4	686	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000395029.1_Missense_Mutation_p.E164K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	164					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E164K(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCTCTACGAACATTTCAA	0.592																																						ENST00000395029.1																			2	Substitution - Missense(2)	p.E164K(2)	large_intestine(2)	kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(490-492)Gaa>Aaa		transcription factor 7 (T-cell specific, HMG-box)							128.0	119.0	122.0					5																	133473798		2203	4300	6503	SO:0001583	missense	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473798G>A	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.490G>A	5.37:g.133473798G>A	ENSP00000326540:p.Glu164Lys					TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000321584.4_Missense_Mutation_p.E164K|TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K	p.E164K			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	685	+		Breast(839;0.058)	164					B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37	c.490G>A		.	.	.	.	.	.	.	.	.	.	G	18.57	3.653312	0.67472	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037	D;D;D;D;D;D;D;D;D;D;T	0.99282	-5.68;-5.65;-5.66;-5.67;-5.67;-5.59;-5.61;-5.64;-5.6;-5.64;0.7	4.52	4.52	0.55395	CTNNB1 binding, N-teminal (1);	0.313405	0.29280	N	0.012602	D	0.99214	0.9727	M	0.77616	2.38	0.42677	D	0.993534	P;D;D;B	0.76494	0.607;0.991;0.999;0.33	B;P;P;B	0.62740	0.086;0.689;0.906;0.049	D	0.99136	1.0854	10	0.87932	D	0	.	14.5747	0.68238	0.0:0.0:1.0:0.0	.	164;164;164;164	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	K	164;164;164;164;164;164;49;49;49;49;49;49;49;49;49;24	ENSP00000340347:E164K;ENSP00000326654:E164K;ENSP00000326540:E164K;ENSP00000367827:E164K;ENSP00000378472:E164K;ENSP00000367822:E49K;ENSP00000397946:E49K;ENSP00000429547:E49K;ENSP00000430179:E49K;ENSP00000378469:E49K;ENSP00000429696:E24K	ENSP00000326540:E164K	E	+	1	0	TCF7	133501697	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.586000	0.67503	2.346000	0.79739	0.557000	0.71058	GAA		0.592	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		85	435	0	0	0	1	0	85	435				
FASN	2194	broad.mit.edu	37	17	80045103	80045103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045103G>T	ENST00000306749.2	-	21	3468	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1084					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTGACCCTCAGCCACCTGCTC	0.687																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3250-3252)Ctg>Atg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						17.0	18.0	18.0					17																	80045103		2185	4281	6466	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045103G>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3250C>A	17.37:g.80045103G>T	ENSP00000304592:p.Leu1084Met						p.L1084M	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		21	3468	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1084					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.3250C>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733574	0.48939	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.27890	1.64	3.19	2.09	0.27110	.	0.083165	0.47093	D	0.000253	T	0.44746	0.1308	M	0.80183	2.485	0.42971	D	0.994435	D	0.56287	0.975	P	0.56163	0.793	T	0.44483	-0.9325	10	0.45353	T	0.12	-11.5452	7.486	0.27432	0.2453:0.0:0.7547:0.0	.	1084	P49327	FAS_HUMAN	M	1084;49	ENSP00000304592:L1084M	ENSP00000304592:L1084M	L	-	1	2	FASN	77638392	0.882000	0.30256	0.025000	0.17156	0.005000	0.04900	1.371000	0.34250	1.628000	0.50416	0.491000	0.48974	CTG		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		14	65	1	0	1.05317e-09	1	1.11087e-09	14	65				
MYH6	4624	broad.mit.edu	37	14	23856842	23856842	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23856842C>T	ENST00000356287.3	-	31	4575	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.E1516K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1516					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTAGCTGCTCAGTAAGGTCC	0.587																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4546-4548)Gag>Aag		myosin, heavy chain 6, cardiac muscle, alpha							91.0	78.0	82.0					14																	23856842		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23856842C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4546G>A	14.37:g.23856842C>T	ENSP00000348634:p.Glu1516Lys					MYH6_ENST00000356287.3_Missense_Mutation_p.E1516K	p.E1516K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	32	4616	-	all_cancers(95;2.54e-05)		1516					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4546G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	35	5.552207	0.96501	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.79653	-1.29;-1.29	4.62	4.62	0.57501	Myosin tail (1);	.	.	.	.	D	0.90058	0.6895	M	0.90542	3.125	0.80722	D	1	D	0.55800	0.973	P	0.57244	0.816	D	0.92497	0.6005	9	0.72032	D	0.01	.	17.8518	0.88748	0.0:1.0:0.0:0.0	.	1516	P13533	MYH6_HUMAN	K	1516	ENSP00000386041:E1516K;ENSP00000348634:E1516K	ENSP00000348634:E1516K	E	-	1	0	MYH6	22926682	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.632000	0.83247	2.283000	0.76528	0.549000	0.68633	GAG		0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			67	349	0	0	0	1	0	67	349				
CD109	135228	broad.mit.edu	37	6	74407148	74407148	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74407148G>T	ENST00000287097.5	+	2	212	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	CD109_ENST00000437994.2_Missense_Mutation_p.G34W|CD109_ENST00000422508.2_Missense_Mutation_p.G34W|RP11-553A21.3_ENST00000428865.2_RNA			Q6YHK3	CD109_HUMAN	CD109 molecule	34					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACAGCCCCAGGGATCATCAG	0.507																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(100-102)Ggg>Tgg		CD109 molecule							107.0	106.0	106.0					6																	74407148		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74407148G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.100G>T	6.37:g.74407148G>T	ENSP00000287097:p.Gly34Trp					CD109_ENST00000287097.5_Missense_Mutation_p.G34W|CD109_ENST00000422508.2_Missense_Mutation_p.G34W	p.G34W	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			2	531	+			34					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.100G>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099419	0.37048	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23552	1.9;2.05;1.9	5.31	3.39	0.38822	.	0.166019	0.38492	N	0.001678	T	0.13927	0.0337	N	0.14661	0.345	0.23848	N	0.996675	D;B;B;B	0.59357	0.985;0.133;0.023;0.012	P;B;B;B	0.61592	0.891;0.025;0.017;0.01	T	0.04413	-1.0953	10	0.45353	T	0.12	.	8.848	0.35181	0.1943:0.0:0.8057:0.0	.	34;34;34;34	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	W	34	ENSP00000388062:G34W;ENSP00000404475:G34W;ENSP00000287097:G34W	ENSP00000287097:G34W	G	+	1	0	CD109	74463869	0.998000	0.40836	0.987000	0.45799	0.829000	0.46940	1.048000	0.30379	1.492000	0.48499	0.655000	0.94253	GGG		0.507	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		71	380	1	0	1.1397e-45	1	1.39802e-45	71	380				
AHNAK	79026	broad.mit.edu	37	11	62287933	62287933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62287933C>T	ENST00000378024.4	-	5	14230	c.13956G>A	c.(13954-13956)atG>atA	p.M4652I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4652					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACTTTGGGCATTTTTAGGT	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13954-13956)atG>atA		AHNAK nucleoprotein							211.0	215.0	214.0					11																	62287933		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287933C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13956G>A	11.37:g.62287933C>T	ENSP00000367263:p.Met4652Ile					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M4652I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14230	-		Melanoma(852;0.155)	4652					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13956G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797458	0.31777	.	.	ENSG00000124942	ENST00000378024	T	0.01918	4.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.89534	3.04	0.39705	D	0.971245	D	0.56521	0.976	D	0.73380	0.98	T	0.12372	-1.0550	10	0.25751	T	0.34	-32.4759	18.5463	0.91047	0.0:1.0:0.0:0.0	.	4652	Q09666	AHNK_HUMAN	I	4652	ENSP00000367263:M4652I	ENSP00000367263:M4652I	M	-	3	0	AHNAK	62044509	0.998000	0.40836	1.000000	0.80357	0.275000	0.26752	1.013000	0.29937	2.468000	0.83385	0.543000	0.68304	ATG		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		248	1297	0	0	0	1	0	248	1297				
ALMS1	7840	broad.mit.edu	37	2	73829384	73829384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73829384G>A	ENST00000264448.6	+	20	12295	c.12184G>A	c.(12184-12186)Gtc>Atc	p.V4062I	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4062	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGTTAATAGTCCAGGAGAG	0.502																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12184-12186)Gtc>Atc		Alstrom syndrome 1							60.0	64.0	62.0					2																	73829384		2203	4300	6503	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73829384G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12184G>A	2.37:g.73829384G>A	ENSP00000264448:p.Val4062Ile					ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I|ALMS1_ENST00000464408.2_3'UTR	p.V4062I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			20	12295	+			4062					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12184G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330713	0.81690	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07327	3.2;3.2	5.38	4.43	0.53597	.	0.377452	0.25436	N	0.030696	T	0.19846	0.0477	L	0.46157	1.445	0.80722	D	1	P;D	0.64830	0.835;0.994	P;D	0.72982	0.685;0.979	T	0.00038	-1.2247	10	0.62326	D	0.03	.	10.8552	0.46794	0.0971:0.0:0.9029:0.0	.	4020;4062	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	I	4020;4062	ENSP00000386627:V4020I;ENSP00000264448:V4062I	ENSP00000264448:V4062I	V	+	1	0	ALMS1	73682892	0.529000	0.26322	1.000000	0.80357	0.998000	0.95712	2.785000	0.47782	2.793000	0.96121	0.655000	0.94253	GTC		0.502	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		81	215	0	0	0	1	0	81	215				
KCNA4	3739	broad.mit.edu	37	11	30033811	30033811	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033811T>G	ENST00000328224.6	-	2	1648	c.415A>C	c.(415-417)Agg>Cgg	p.R139R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	139					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TAGTAAAACCTTCcctcctct	0.552																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(415-417)Agg>Cgg		potassium voltage-gated channel, shaker-related subfamily, member 4							51.0	51.0	51.0					11																	30033811		2193	4294	6487	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033811T>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.415A>C	11.37:g.30033811T>G							p.R139R	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1648	-			139						Silent	SNP	ENST00000328224.6	37	c.415A>C	CCDS41629.1																																																																																				0.552	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		41	217	0	0	0	1	0	41	217				
AFF3	3899	broad.mit.edu	37	2	100210308	100210308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210308G>A	ENST00000409236.2	-	13	1927	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	AFF3_ENST00000317233.4_Silent_p.P605P|AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000356421.2_Silent_p.P630P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	605					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCTCCTCGGGCCGGTGGC	0.751																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1813-1815)ccC>ccT		AF4/FMR2 family, member 3							9.0	12.0	11.0					2																	100210308		2058	4079	6137	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210308G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1815C>T	2.37:g.100210308G>A						AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000409236.1_Silent_p.P605P|AFF3_ENST00000356421.2_Silent_p.P630P	p.P605P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2050	-			605					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.1815C>T	CCDS42723.1																																																																																				0.751	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		54	128	0	0	0	1	0	54	128				
DDI1	414301	broad.mit.edu	37	11	103908400	103908400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103908400C>T	ENST00000302259.3	+	1	1093	c.850C>T	c.(850-852)Cga>Tga	p.R284*	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	284							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTGGTGGACCGACGGTGGGC	0.512																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(850-852)Cga>Tga		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							99.0	94.0	96.0					11																	103908400		2202	4299	6501	SO:0001587	stop_gained	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908400C>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.850C>T	11.37:g.103908400C>T	ENSP00000302805:p.Arg284*					PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	p.R284*	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1093	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	284					Q7Z4U6|Q8WTS3	Nonsense_Mutation	SNP	ENST00000302259.3	37	c.850C>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	37	6.548956	0.97654	.	.	ENSG00000170967	ENST00000302259	.	.	.	5.21	3.28	0.37604	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4899	11.4457	0.50123	0.4742:0.5258:0.0:0.0	.	.	.	.	X	284	.	ENSP00000302805:R284X	R	+	1	2	DDI1	103413610	0.997000	0.39634	0.822000	0.32727	0.672000	0.39443	0.464000	0.21988	0.840000	0.34995	0.655000	0.94253	CGA		0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		12	527	0	0	0	1	0	12	527				
SPOCD1	90853	broad.mit.edu	37	1	32258902	32258902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32258902C>T	ENST00000360482.2	-	13	2791	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	888	SPOC.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGCTGTGTCCCGAGACCAGC	0.627																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2662-2664)Gga>Aga		SPOC domain containing 1							27.0	26.0	26.0					1																	32258902		2200	4297	6497	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32258902C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2662G>A	1.37:g.32258902C>T	ENSP00000353670:p.Gly888Arg					SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R	p.G888R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	13	2791	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	888			SPOC.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2662G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999365	0.93227	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	T;T;T;T	0.73897	-0.79;0.4;-0.75;0.37	5.73	5.73	0.89815	Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	D	0.86669	0.5988	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87606	0.2500	9	0.87932	D	0	-17.4789	15.7793	0.78246	0.0:1.0:0.0:0.0	.	888;324;888	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	R	381;888;248;324;888	ENSP00000257100:G381R;ENSP00000353670:G888R;ENSP00000399778:G324R;ENSP00000435851:G888R	ENSP00000257100:G381R	G	-	1	0	SPOCD1	32031489	0.990000	0.36364	0.965000	0.40720	0.968000	0.65278	4.114000	0.57858	2.882000	0.98803	0.655000	0.94253	GGA		0.627	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		13	61	0	0	0	1	0	13	61				
DST	667	broad.mit.edu	37	6	56472155	56472155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472155C>A	ENST00000361203.3	-	36	6645	c.6638G>T	c.(6637-6639)aGg>aTg	p.R2213M	DST_ENST00000446842.2_Missense_Mutation_p.R1887M|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R2213M|DST_ENST00000370769.4_Missense_Mutation_p.R2213M|DST_ENST00000370754.5_Missense_Mutation_p.R2391M			Q03001	DYST_HUMAN	dystonin	2213					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGAATCCCTGTTTGTATT	0.348																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(7171-7173)aGg>aTg		dystonin							76.0	71.0	73.0					6																	56472155		1864	4087	5951	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56472155C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6638G>T	6.37:g.56472155C>A	ENSP00000354508:p.Arg2213Met					DST_ENST00000370769.4_Missense_Mutation_p.R2213M|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R2213M|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.R2213M|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.R1887M	p.R2391M			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	7171	-	Lung NSC(77;0.103)		2213					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.7172G>T		.	.	.	.	.	.	.	.	.	.	C	12.83	2.054911	0.36277	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81996	-0.07;-0.07;0.88;-1.56;-0.09;-0.35	5.38	-3.95	0.04118	.	0.998767	0.08101	N	0.997755	T	0.62780	0.2456	.	.	.	0.24542	N	0.994065	P	0.45827	0.867	P	0.44946	0.465	T	0.57423	-0.7814	8	0.72032	D	0.01	.	3.907	0.09186	0.1311:0.479:0.1341:0.2558	.	1887	Q03001-9	.	M	2391;2213;1887;2213;2213;1887	ENSP00000359790:R2391M;ENSP00000359805:R2213M;ENSP00000393645:R1887M;ENSP00000307959:R2213M;ENSP00000354508:R2213M;ENSP00000404924:R1887M	ENSP00000307959:R2213M	R	-	2	0	DST	56580114	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.849000	0.04322	-0.569000	0.06030	-0.251000	0.11542	AGG		0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	232	1	0	8.12818e-05	1	8.2724e-05	7	232				
LAMP1	3916	broad.mit.edu	37	13	113975904	113975904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113975904C>T	ENST00000332556.4	+	8	1170	c.976C>T	c.(976-978)Cga>Tga	p.R326*	LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	326	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGGCTCCCTGCGAGCGCTGCA	0.602																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(976-978)Cga>Tga		lysosomal-associated membrane protein 1							71.0	80.0	77.0					13																	113975904		2009	4176	6185	SO:0001587	stop_gained	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113975904C>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.976C>T	13.37:g.113975904C>T	ENSP00000333298:p.Arg326*					LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	p.R326*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		8	1170	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	326			Second lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Nonsense_Mutation	SNP	ENST00000332556.4	37	c.976C>T	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864919	0.91511	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	.	.	.	5.27	1.3	0.21679	.	0.404542	0.29040	N	0.013330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-29.2117	12.9598	0.58451	0.61:0.39:0.0:0.0	.	.	.	.	X	326;273	.	ENSP00000333298:R326X	R	+	1	2	LAMP1	113023905	0.997000	0.39634	0.629000	0.29254	0.001000	0.01503	1.837000	0.39201	0.004000	0.14682	-1.748000	0.00681	CGA		0.602	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			81	542	0	0	0	1	0	81	542				
PHEX	5251	broad.mit.edu	37	X	22129647	22129647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:22129647G>A	ENST00000379374.4	+	10	1707	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PHEX_ENST00000535894.1_Missense_Mutation_p.R284H|PHEX_ENST00000537599.1_Missense_Mutation_p.R381H|PHEX_ENST00000418858.3_Missense_Mutation_p.R84H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	381					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTAGCAGGCGCTTTCAGTAT	0.383																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1141-1143)cGc>cAc		phosphate regulating endopeptidase homolog, X-linked							151.0	144.0	146.0					X																	22129647		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22129647G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1142G>A	X.37:g.22129647G>A	ENSP00000368682:p.Arg381His					PHEX_ENST00000418858.3_Missense_Mutation_p.R84H|PHEX_ENST00000535894.1_Missense_Mutation_p.R284H|PHEX_ENST00000537599.1_Missense_Mutation_p.R381H	p.R381H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			10	1707	+			381					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1142G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838748	0.91117	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.58	5.58	0.84498	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	D	0.92463	0.5979	10	0.62326	D	0.03	.	18.2521	0.90007	0.0:0.0:1.0:0.0	.	381;381	F5GXU4;P78562	.;PHEX_HUMAN	H	381;381;284;84	ENSP00000368682:R381H;ENSP00000440362:R381H;ENSP00000439418:R284H;ENSP00000443531:R84H	ENSP00000368682:R381H	R	+	2	0	PHEX	22039568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.944000	0.87722	2.349000	0.79799	0.600000	0.82982	CGC		0.383	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		195	557	0	0	0	1	0	195	557				
TUBB3	10381	broad.mit.edu	37	16	89999002	89999002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89999002G>A	ENST00000315491.7	+	2	204	c.81G>A	c.(79-81)gaG>gaA	p.E27E	TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000555576.1_Silent_p.E27E|TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000556922.1_Silent_p.E374E|TUBB3_ENST00000554444.1_5'UTR	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	27					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TCAGTGATGAGCATGGCATCG	0.607																																						ENST00000556922.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1120-1122)gaG>gaA		tubulin, beta 3 class III							88.0	70.0	76.0					16																	89999002		2198	4299	6497	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:89999002G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.81G>A	16.37:g.89999002G>A						TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000315491.7_Silent_p.E27E|TUBB3_ENST00000555576.1_Silent_p.E27E	p.E374E			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	1216	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	27					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.1122G>A	CCDS10988.1																																																																																				0.607	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		68	247	0	0	0	1	0	68	247				
RNF8	9025	broad.mit.edu	37	6	37336474	37336474	+	Missense_Mutation	SNP	C	C	T	rs577308187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37336474C>T	ENST00000373479.4	+	3	648	c.455C>T	c.(454-456)aCt>aTt	p.T152I	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.T152I	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	152					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAATTGAGAACTAAAAGGAAA	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		21089	0.0		0.0	False		,,,				2504	0.001					ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(454-456)aCt>aTt		ring finger protein 8, E3 ubiquitin protein ligase							50.0	52.0	51.0					6																	37336474		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336474C>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.455C>T	6.37:g.37336474C>T	ENSP00000362578:p.Thr152Ile					RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.T152I	p.T152I	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	648	+			152					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.455C>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283628	0.80803	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.84442	-1.85;0.64;0.77	5.85	5.85	0.93711	.	0.187543	0.47455	D	0.000222	D	0.84370	0.5457	M	0.69823	2.125	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.44860	0.462;0.462	D	0.86284	0.1669	10	0.62326	D	0.03	-4.7932	19.1613	0.93533	0.0:1.0:0.0:0.0	.	95;152	C9J858;O76064	.;RNF8_HUMAN	I	152;95;152	ENSP00000362578:T152I;ENSP00000417736:T95I;ENSP00000418879:T152I	ENSP00000362578:T152I	T	+	2	0	RNF8	37444452	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.212000	0.72188	2.768000	0.95171	0.655000	0.94253	ACT		0.358	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			60	263	0	0	0	1	0	60	263				
ARHGAP25	9938	broad.mit.edu	37	2	69002461	69002461	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002461G>T	ENST00000295381.3	+	2	589	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGAAGCAGAGGTCCATCGTG	0.582																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(169-171)aGg>aTg		Rho GTPase activating protein 25							160.0	168.0	165.0					2																	69002461		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002461G>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.170G>T	2.37:g.69002461G>T	ENSP00000295381:p.Arg57Met					ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M	p.R57M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			2	589	+			57			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.170G>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.346716	0.82022	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048467	0.64402	D	0.000001	T	0.41949	0.1181	M	0.88450	2.955	0.44562	D	0.997521	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D	0.77004	0.989;0.97;0.983;0.983;0.983;0.963;0.989	T	0.41574	-0.9501	10	0.59425	D	0.04	.	11.5985	0.50988	0.0822:0.0:0.9178:0.0	.	57;31;57;50;50;50;57	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	M	31;57;57;57;50;50;50;50;50	ENSP00000439917:R31M;ENSP00000295381:R57M;ENSP00000386911:R57M;ENSP00000420583:R57M;ENSP00000386863:R50M;ENSP00000386241:R50M;ENSP00000417139:R50M	ENSP00000295381:R57M	R	+	2	0	ARHGAP25	68855965	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.672000	0.83956	2.613000	0.88420	0.563000	0.77884	AGG		0.582	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		269	728	1	0	2.40599e-113	1	3.09752e-113	269	728				
TMEM184A	202915	broad.mit.edu	37	7	1590537	1590537	+	Missense_Mutation	SNP	C	C	T	rs374204193		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590537C>T	ENST00000297477.5	-	3	617	c.301G>A	c.(301-303)Gcc>Acc	p.A101T		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	101					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGTCGAAGGCGTAGATGGGC	0.622																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(301-303)Gcc>Acc		transmembrane protein 184A			THR/ALA	2,4404	4.2+/-10.8	0,2,2201	92.0	102.0	98.0		301	3.1	1.0	7		98	0,8600		0,0,4300	no	missense	TMEM184A	NM_001097620.1	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	101/414	1590537	2,13004	2203	4300	6503	SO:0001583	missense	202915					integral to membrane		g.chr7:1590537C>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.301G>A	7.37:g.1590537C>T	ENSP00000297477:p.Ala101Thr						p.A101T	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	3	617	-		Ovarian(82;0.0253)	101					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.301G>A	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807201	0.70797	4.54E-4	0.0	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.05	3.08	0.35506	.	0.129788	0.51477	U	0.000089	T	0.66499	0.2795	M	0.87328	2.875	0.80722	D	1	P	0.51057	0.941	P	0.46850	0.529	T	0.74328	-0.3701	10	0.66056	D	0.02	-7.3466	12.4568	0.55708	0.4328:0.5672:0.0:0.0	.	101	Q6ZMB5	T184A_HUMAN	T	101	ENSP00000297477:A101T;ENSP00000325945:A101T;ENSP00000398382:A101T;ENSP00000389092:A101T;ENSP00000403499:A101T	ENSP00000297477:A101T	A	-	1	0	TMEM184A	1557063	0.998000	0.40836	0.957000	0.39632	0.801000	0.45260	3.733000	0.55029	1.091000	0.41335	0.407000	0.27541	GCC		0.622	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		61	201	0	0	0	1	0	61	201				
SLC25A26	115286	broad.mit.edu	37	3	66313765	66313765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66313765G>A	ENST00000413054.1	+	3	225	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000354883.6_Missense_Mutation_p.G139R|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.G51R			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	139					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GGGTATCCAAGGGTTGTATCG	0.388																																						ENST00000354883.6																			0				endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8						c.(415-417)Ggg>Agg		solute carrier family 25 (S-adenosylmethionine carrier), member 26							123.0	116.0	118.0					3																	66313765		2203	4300	6503	SO:0001583	missense	115286					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity	g.chr3:66313765G>A	AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"""Solute carriers"""	20661	protein-coding gene	gene with protein product		611037	"""solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"""			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000413054.1:c.151G>A	3.37:g.66313765G>A	ENSP00000415304:p.Gly51Arg					SLC25A26_ENST00000336733.5_Missense_Mutation_p.G51R|SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.G139R			Q70HW3	SAMC_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)	6	1143	+		Lung NSC(201;0.00774)	139					A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	ENST00000413054.1	37	c.415G>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.046055	0.75846	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	D;D	0.83163	-1.69;-1.69	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.103920	0.64402	D	0.000003	D	0.91650	0.7361	M	0.88031	2.925	0.80722	D	1	P;P	0.49253	0.84;0.921	P;P	0.56960	0.622;0.81	D	0.92796	0.6252	10	0.87932	D	0	-15.2225	19.4905	0.95048	0.0:0.0:1.0:0.0	.	139;139	F8WAB8;Q70HW3	.;SAMC_HUMAN	R	139;51	ENSP00000346955:G139R;ENSP00000336801:G51R	ENSP00000336801:G51R	G	+	1	0	SLC25A26	66396455	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	8.689000	0.91265	2.601000	0.87937	0.585000	0.79938	GGG		0.388	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2	NM_173471		16	71	0	0	0	1	0	16	71				
FAM129B	64855	broad.mit.edu	37	9	130269465	130269465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269465G>A	ENST00000373312.3	-	14	2113	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	634					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTCAAAGGGCAGCCCCACC	0.687																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1900-1902)Ccc>Tcc		family with sequence similarity 129, member B							29.0	26.0	27.0					9																	130269465		2201	4299	6500	SO:0001583	missense	64855						protein binding	g.chr9:130269465G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1900C>T	9.37:g.130269465G>A	ENSP00000362409:p.Pro634Ser					FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S|FAM129B_ENST00000468379.1_5'UTR	p.P634S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2113	-			634					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1900C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237203	0.39498	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24538	1.85;1.85	5.25	3.38	0.38709	.	0.053669	0.85682	N	0.000000	T	0.32194	0.0821	L	0.34521	1.04	0.40266	D	0.978236	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.12016	-1.0564	10	0.40728	T	0.16	-27.8978	4.6178	0.12435	0.1807:0.0:0.644:0.1753	.	621;634	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	S	621;284;634	ENSP00000362411:P621S;ENSP00000362409:P634S	ENSP00000362409:P634S	P	-	1	0	FAM129B	129309286	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	4.216000	0.58540	1.344000	0.45657	-0.291000	0.09656	CCC		0.687	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		23	111	0	0	0	1	0	23	111				
AP1G2	8906	broad.mit.edu	37	14	24033058	24033058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033058G>T	ENST00000308724.5	-	11	1854	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	367					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTTAGTTCCAGGGCTCTCCTG	0.592																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(1099-1101)Ctg>Atg		adaptor-related protein complex 1, gamma 2 subunit							60.0	56.0	58.0					14																	24033058		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033058G>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1099C>A	14.37:g.24033058G>T	ENSP00000312442:p.Leu367Met					RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M	p.L367M	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	11	1854	-	all_cancers(95;0.000251)		367					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.1099C>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.921950	0.17982	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.39997	1.05;1.05	4.71	3.82	0.43975	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.33440	0.0863	N	0.25144	0.715	0.53688	D	0.999977	P;P	0.41597	0.605;0.756	B;P	0.48704	0.264;0.587	T	0.06716	-1.0811	10	0.29301	T	0.29	-8.8989	6.1505	0.20308	0.0953:0.0:0.722:0.1827	.	367;222	O75843;Q86V28	AP1G2_HUMAN;.	M	367;367;136;222	ENSP00000312442:L367M;ENSP00000380309:L367M	ENSP00000312442:L367M	L	-	1	2	AP1G2	23102898	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.203000	0.42752	1.180000	0.42898	0.557000	0.71058	CTG		0.592	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		44	281	1	0	1.8453e-21	1	2.07902e-21	44	281				
MSC	9242	broad.mit.edu	37	8	72756513	72756513	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72756513C>T	ENST00000325509.4	-	0	190				MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Missense_Mutation_p.A118V|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin						branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GGCCAGAGAGCGCTCCAAGGA	0.687																																						ENST00000537896.1																			0				lung(1)	1						c.(352-354)gCg>gTg																																						SO:0001623	5_prime_UTR_variant	0							g.chr8:72756513C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.-100G>A	8.37:g.72756513C>T						RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|MSC_ENST00000325509.4_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	p.A118V							2	623	+								O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.353C>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287400	0.23478	.	.	ENSG00000235531	ENST00000537896	.	.	.	3.64	-1.68	0.08212	.	.	.	.	.	T	0.27629	0.0679	.	.	.	0.21184	N	0.999768	.	.	.	.	.	.	T	0.38351	-0.9665	5	0.87932	D	0	.	1.387	0.02242	0.3237:0.3861:0.1189:0.1713	.	.	.	.	V	118	.	ENSP00000440866:A118V	A	+	2	0	RP11-383H13.1	72919067	0.342000	0.24809	0.019000	0.16419	0.006000	0.05464	-0.292000	0.08332	0.074000	0.16767	-0.397000	0.06425	GCG		0.687	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		5	76	0	0	0	1	0	5	76				
OR6Y1	391112	broad.mit.edu	37	1	158517417	158517417	+	Missense_Mutation	SNP	G	G	A	rs148583112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517417G>A	ENST00000302617.3	-	1	478	c.479C>T	c.(478-480)aCt>aTt	p.T160I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AATCATGGCAGTCATGAGTCC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		23831	0.0		0.001	False		,,,				2504	0.0					ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(478-480)aCt>aTt		olfactory receptor, family 6, subfamily Y, member 1		G	ILE/THR	0,4406		0,0,2203	52.0	46.0	48.0		479	3.4	0.6	1	dbSNP_134	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR6Y1	NM_001005189.1	89	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	160/326	158517417	4,13002	2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517417G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.479C>T	1.37:g.158517417G>A	ENSP00000304807:p.Thr160Ile						p.T160I	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	478	-	all_hematologic(112;0.0378)		160					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.479C>T	CCDS30899.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.94	1.787184	0.31593	0.0	4.65E-4	ENSG00000197532	ENST00000302617	T	0.34667	1.35	5.34	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000574	T	0.13200	0.0320	N	0.02296	-0.605	0.22684	N	0.998854	D	0.71674	0.998	D	0.66847	0.947	T	0.07309	-1.0779	10	0.26408	T	0.33	.	7.1526	0.25618	0.1503:0.1458:0.7039:0.0	.	160	Q8NGX8	OR6Y1_HUMAN	I	160	ENSP00000304807:T160I	ENSP00000304807:T160I	T	-	2	0	OR6Y1	156784041	0.000000	0.05858	0.554000	0.28268	0.998000	0.95712	-0.056000	0.11787	1.466000	0.48025	0.655000	0.94253	ACT		0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		30	176	0	0	0	1	0	30	176				
MKL1	57591	broad.mit.edu	37	22	40817021	40817021	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40817021C>T	ENST00000355630.3	-	10	1301	c.711G>A	c.(709-711)aaG>aaA	p.K237K	MKL1_ENST00000407029.1_Silent_p.K237K|MKL1_ENST00000396617.3_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	237	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACTGGTGGTACTTGAGCTTCT	0.592			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(709-711)aaG>aaA		megakaryoblastic leukemia (translocation) 1							138.0	117.0	124.0					22																	40817021		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40817021C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.711G>A	22.37:g.40817021C>T						MKL1_ENST00000407029.1_Silent_p.K237K|MKL1_ENST00000355630.3_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K	p.K237K			Q969V6	MKL1_HUMAN			10	1301	-			237			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.711G>A	CCDS14003.1																																																																																				0.592	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		71	316	0	0	0	1	0	71	316				
RIPK4	54101	broad.mit.edu	37	21	43161903	43161903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161903G>A	ENST00000352483.2	-	9	1658	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	RIPK4_ENST00000332512.3_Missense_Mutation_p.R484W|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W|RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	532					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACGACACCCCGCACCCTCCTC	0.632																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1594-1596)Cgg>Tgg		receptor-interacting serine-threonine kinase 4							97.0	84.0	89.0					21																	43161903		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161903G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1594C>T	21.37:g.43161903G>A	ENSP00000330161:p.Arg532Trp					RIPK4_ENST00000332512.3_Missense_Mutation_p.R484W|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W|RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W	p.R532W			Q96T11	Q96T11_HUMAN			9	1658	-			484					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1594C>T		.	.	.	.	.	.	.	.	.	.	G	11.61	1.690655	0.29962	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.84	3.86	0.44501	.	0.205027	0.32640	N	0.005837	T	0.21841	0.0526	L	0.28014	0.82	0.23070	N	0.998349	D	0.71674	0.998	P	0.59546	0.859	T	0.02161	-1.1203	10	0.62326	D	0.03	-32.3207	9.6918	0.40134	0.0:0.0:0.5728:0.4272	.	484	P57078-2	.	W	484;532;421;421;223	ENSP00000332454:R484W;ENSP00000330161:R532W;ENSP00000441754:R421W;ENSP00000442901:R421W	ENSP00000330975:R223W	R	-	1	2	RIPK4	42034972	0.999000	0.42202	0.043000	0.18650	0.004000	0.04260	4.307000	0.59123	2.209000	0.71365	0.655000	0.94253	CGG		0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		41	477	0	0	0	1	0	41	477				
ABCA8	10351	broad.mit.edu	37	17	66891152	66891152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66891152C>T	ENST00000269080.2	-	20	2784	c.2647G>A	c.(2647-2649)Gca>Aca	p.A883T	ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T|ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	883					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCAATGCTTGCCCCTAAGGTG	0.353																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2647-2649)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 8							132.0	112.0	119.0					17																	66891152		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66891152C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2647G>A	17.37:g.66891152C>T	ENSP00000269080:p.Ala883Thr					ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T|ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T	p.A883T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			20	2784	-	Breast(10;4.56e-13)		883					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2647G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521765	0.27211	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.85484	-1.99;-1.99	3.61	-1.24	0.09435	.	0.174631	0.27411	N	0.019481	T	0.77877	0.4196	M	0.68317	2.08	0.26827	N	0.968675	B;B;B;B;B	0.32731	0.167;0.201;0.382;0.088;0.201	B;B;B;B;B	0.36092	0.138;0.217;0.146;0.053;0.217	T	0.63554	-0.6611	10	0.25106	T	0.35	.	2.698	0.05140	0.3924:0.3702:0.0:0.2374	.	862;923;923;923;883	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	883;923;862	ENSP00000269080:A883T;ENSP00000402814:A923T	ENSP00000269080:A883T	A	-	1	0	ABCA8	64402747	0.000000	0.05858	0.934000	0.37439	0.475000	0.33008	-1.033000	0.03571	0.012000	0.14892	0.650000	0.86243	GCA		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		41	233	0	0	0	1	0	41	233				
OR5F1	338674	broad.mit.edu	37	11	55761759	55761759	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55761759A>G	ENST00000278409.1	-	1	342	c.343T>C	c.(343-345)Ttt>Ctt	p.F115L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	115					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATTAACCCAAAGAGGATGCAT	0.493																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(343-345)Ttt>Ctt		olfactory receptor, family 5, subfamily F, member 1							78.0	77.0	77.0					11																	55761759		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761759A>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.343T>C	11.37:g.55761759A>G	ENSP00000278409:p.Phe115Leu						p.F115L	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	342	-	Esophageal squamous(21;0.00448)		115					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.343T>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.323286	0.01309	.	.	ENSG00000149133	ENST00000278409	T	0.00824	5.65	2.92	0.386	0.16254	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.00014	-2.905	0.09310	N	1	B	0.23735	0.09	B	0.22386	0.039	T	0.43750	-0.9372	9	0.02654	T	1	.	6.2785	0.20993	0.4996:0.0:0.5004:0.0	.	115	O95221	OR5F1_HUMAN	L	115	ENSP00000278409:F115L	ENSP00000278409:F115L	F	-	1	0	OR5F1	55518335	0.035000	0.19736	0.306000	0.25113	0.499000	0.33736	0.295000	0.19065	0.191000	0.20236	0.247000	0.18012	TTT		0.493	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		100	489	0	0	0	1	0	100	489				
PLEKHH1	57475	broad.mit.edu	37	14	68045259	68045259	+	Silent	SNP	G	G	A	rs188731260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68045259G>A	ENST00000329153.5	+	20	2892	c.2760G>A	c.(2758-2760)caG>caA	p.Q920Q	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	920	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTGCTGGCAGCTCCTCGCTC	0.582													G|||	2	0.000399361	0.0	0.0014	5008	,	,		22029	0.0		0.001	False		,,,				2504	0.0					ENST00000329153.5																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(2758-2760)caG>caA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1		G		4,4370		0,4,2183	49.0	56.0	54.0		2760	3.5	1.0	14		54	8,8570		0,8,4281	no	coding-synonymous	PLEKHH1	NM_020715.2		0,12,6464	AA,AG,GG		0.0933,0.0914,0.0926		920/1365	68045259	12,12940	2187	4289	6476	SO:0001819	synonymous_variant	57475					cytoskeleton	binding	g.chr14:68045259G>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2760G>A	14.37:g.68045259G>A							p.Q920Q	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	20	2892	+			920			MyTH4.		A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	c.2760G>A	CCDS45128.1																																																																																				0.582	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		8	70	0	0	0	1	0	8	70				
CUX1	1523	broad.mit.edu	37	7	101921318	101921318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101921318G>A	ENST00000437600.4	+	18	2008	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.L538L|CUX1_ENST00000425244.2_Silent_p.L508L|CUX1_ENST00000393824.3_Silent_p.L515L|CUX1_ENST00000292538.4_Silent_p.L554L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	361					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAAGTTCCTGCAGAGCTACC	0.652																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1654-1656)ctG>ctA		cut-like homeobox 1							40.0	34.0	36.0					7																	101921318		2203	4299	6502	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101921318G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1656G>A	7.37:g.101921318G>A						CUX1_ENST00000292538.4_Silent_p.L554L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.L538L|CUX1_ENST00000393824.3_Silent_p.L515L|CUX1_ENST00000425244.2_Silent_p.L508L	p.L552L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			18	2008	+			361					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	37	c.1656G>A	CCDS47672.1																																																																																				0.652	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		15	116	0	0	0	1	0	15	116				
KANSL1	284058	broad.mit.edu	37	17	44172013	44172013	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44172013G>T	ENST00000262419.6	-	3	1814	c.1344C>A	c.(1342-1344)cgC>cgA	p.R448R	KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000574590.1_Silent_p.R448R|KANSL1_ENST00000432791.1_Silent_p.R448R|KANSL1_ENST00000572904.1_Silent_p.R448R|KANSL1_ENST00000575318.1_Silent_p.R448R	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	448					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GCCAGTTCCAGCGGCTGACAA	0.438																																						ENST00000393476.3																			0													KAT8 regulatory NSL complex subunit 1							104.0	124.0	117.0					17																	44172013		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44172013G>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1344C>A	17.37:g.44172013G>T						KANSL1_ENST00000432791.1_Silent_p.R448R|KANSL1_ENST00000575318.1_Silent_p.R448R|KANSL1_ENST00000574590.1_Silent_p.R448R|KANSL1_ENST00000572904.1_Silent_p.R448R|KANSL1_ENST00000262419.6_Silent_p.R448R				Q7Z3B3	K1267_HUMAN			0	1814	-								A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Translation_Start_Site	SNP	ENST00000262419.6	37		CCDS11503.1																																																																																				0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		107	559	1	0	2.84368e-68	1	3.60535e-68	107	559				
TRAV18	28665	broad.mit.edu	37	14	22471902	22471902	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22471902G>A	ENST00000390446.3	+	0	430									T cell receptor alpha variable 18																		GTACTACTGCGCTCTGAGAGA	0.597																																						ENST00000390446.3																			0																				17.0	18.0	18.0					14																	22471902		1972	4162	6134			0							g.chr14:22471902G>A	AE000660		14q11.2	2012-02-07			ENSG00000211798	ENSG00000211798		"""T cell receptors / TRA locus"""	12114	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV18S1			OTTHUMG00000170644		14.37:g.22471902G>A														0	430	+									RNA	SNP	ENST00000390446.3	37																																																																																						0.597	TRAV18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409892.1	NG_001332		11	82	0	0	0	1	0	11	82				
B4GALNT4	338707	broad.mit.edu	37	11	377173	377173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377173C>T	ENST00000329962.6	+	14	2050	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	684					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGACTGGCAGCGCACGTTCAG	0.726																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2050-2052)Cgc>Tgc		beta-1,4-N-acetyl-galactosaminyl transferase 4							10.0	8.0	8.0					11																	377173		2048	4072	6120	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:377173C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2050C>T	11.37:g.377173C>T	ENSP00000328277:p.Arg684Cys						p.R684C	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	2050	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	684					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2050C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.89	3.719105	0.68844	.	.	ENSG00000182272	ENST00000329962	T	0.08546	3.08	3.52	3.52	0.40303	.	0.065101	0.56097	D	0.000032	T	0.23611	0.0571	M	0.63428	1.95	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	T	0.00964	-1.1498	10	0.87932	D	0	-27.6998	11.936	0.52874	0.25:0.75:0.0:0.0	.	684	Q76KP1	B4GN4_HUMAN	C	684	ENSP00000328277:R684C	ENSP00000328277:R684C	R	+	1	0	B4GALNT4	367173	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.794000	0.38774	1.974000	0.57490	0.436000	0.28706	CGC		0.726	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		8	40	0	0	0	1	0	8	40				
KCNH6	81033	broad.mit.edu	37	17	61613124	61613124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613124C>T	ENST00000583023.1	+	6	1207	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	399					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATGGGGCGGCTGTGCTCTTC	0.612																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1195-1197)gCt>gTt		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						95.0	84.0	88.0					17																	61613124		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613124C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1196C>T	17.37:g.61613124C>T	ENSP00000463533:p.Ala399Val					KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V	p.A399V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1207	+			399					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1196C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789243	0.31685	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98531	-4.98;-4.98	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	L	0.48174	1.505	0.80722	D	1	D;B;P;D;D	0.76494	0.995;0.41;0.76;0.974;0.999	D;P;P;D;D	0.78314	0.987;0.573;0.777;0.96;0.991	D	0.99869	1.1093	10	0.87932	D	0	.	17.0722	0.86577	0.0:1.0:0.0:0.0	.	276;399;399;399;399	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	399	ENSP00000318212:A399V;ENSP00000396900:A399V	ENSP00000318212:A399V	A	+	2	0	KCNH6	58966856	1.000000	0.71417	0.206000	0.23566	0.167000	0.22549	7.651000	0.83577	2.244000	0.73946	0.313000	0.20887	GCT		0.612	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		81	324	0	0	0	1	0	81	324				
BMX	660	broad.mit.edu	37	X	15552432	15552432	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15552432C>A	ENST00000357607.2	+	12	1305	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	BMX_ENST00000348343.6_Missense_Mutation_p.L373I|BMX_ENST00000342014.6_Missense_Mutation_p.L373I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	373	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CATTCCAAAGCTTATTCATTA	0.338																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1117-1119)Ctt>Att		BMX non-receptor tyrosine kinase							127.0	123.0	124.0					X																	15552432		2203	4297	6500	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15552432C>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1117C>A	X.37:g.15552432C>A	ENSP00000350224:p.Leu373Ile					BMX_ENST00000348343.6_Missense_Mutation_p.L373I|BMX_ENST00000342014.6_Missense_Mutation_p.L373I	p.L373I			P51813	BMX_HUMAN			12	1305	+	Hepatocellular(33;0.183)		373			SH2.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1117C>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338533	0.60963	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.58940	0.3;0.3;0.3	5.07	5.07	0.68467	SH2 motif (5);	0.000000	0.52532	D	0.000075	T	0.73048	0.3537	M	0.75884	2.315	0.43014	D	0.994558	D	0.76494	0.999	D	0.87578	0.998	T	0.73908	-0.3834	10	0.40728	T	0.16	.	11.31	0.49358	0.1819:0.8181:0.0:0.0	.	373	P51813	BMX_HUMAN	I	373	ENSP00000350224:L373I;ENSP00000308774:L373I;ENSP00000340082:L373I	ENSP00000340082:L373I	L	+	1	0	BMX	15462353	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.803000	0.47924	2.083000	0.62718	0.600000	0.82982	CTT		0.338	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		125	409	1	0	1.05615e-46	1	1.29851e-46	125	409				
BFSP2	8419	broad.mit.edu	37	3	133118967	133118967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133118967G>A	ENST00000302334.2	+	1	129	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	14	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCCCACCAGTGCCAGCTCCAG	0.617																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(40-42)Gcc>Acc		beaded filament structural protein 2, phakinin							81.0	96.0	91.0					3																	133118967		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133118967G>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.40G>A	3.37:g.133118967G>A	ENSP00000304987:p.Ala14Thr						p.A14T	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	129	+			14			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.40G>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402705	0.25291	.	.	ENSG00000170819	ENST00000302334	D	0.83250	-1.7	5.28	-8.74	0.00838	.	1.046730	0.07509	N	0.908564	T	0.62974	0.2472	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48352	-0.9043	10	0.30854	T	0.27	-0.3133	0.5744	0.00701	0.3791:0.1489:0.203:0.269	.	14	Q13515	BFSP2_HUMAN	T	14	ENSP00000304987:A14T	ENSP00000304987:A14T	A	+	1	0	BFSP2	134601657	0.000000	0.05858	0.001000	0.08648	0.575000	0.36095	-1.234000	0.02931	-1.352000	0.02194	-0.379000	0.06801	GCC		0.617	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			98	447	0	0	0	1	0	98	447				
DDX51	317781	broad.mit.edu	37	12	132627285	132627285	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132627285A>G	ENST00000397333.3	-	3	696	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	220					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAAGTAGGACGAGATGCCG	0.627																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(658-660)Tcc>Ccc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							61.0	68.0	65.0					12																	132627285		2075	4197	6272	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132627285A>G	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.658T>C	12.37:g.132627285A>G	ENSP00000380495:p.Ser220Pro						p.S220P	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	3	696	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	220					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.658T>C	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168370	0.38315	.	.	ENSG00000185163	ENST00000397333	T	0.02103	4.45	4.57	0.326	0.15908	DEAD-like helicase (1);	0.501813	0.22809	N	0.055367	T	0.03915	0.0110	M	0.80746	2.51	0.22468	N	0.99908	P	0.44986	0.847	B	0.42738	0.396	T	0.32052	-0.9921	10	0.35671	T	0.21	-19.5276	5.8345	0.18599	0.5219:0.3214:0.0:0.1567	.	220	Q8N8A6	DDX51_HUMAN	P	220	ENSP00000380495:S220P	ENSP00000380495:S220P	S	-	1	0	DDX51	131193238	0.380000	0.25131	0.325000	0.25375	0.683000	0.39861	0.895000	0.28363	0.111000	0.17947	0.402000	0.26972	TCC		0.627	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		73	302	0	0	0	1	0	73	302				
MUC16	94025	broad.mit.edu	37	19	9060121	9060121	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9060121T>A	ENST00000397910.4	-	3	27528	c.27325A>T	c.(27325-27327)Act>Tct	p.T9109S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9111	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGATGCAGTTGAGTGGGTC	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(27325-27327)Act>Tct		mucin 16, cell surface associated							119.0	110.0	113.0					19																	9060121		1923	4137	6060	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060121T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27325A>T	19.37:g.9060121T>A	ENSP00000381008:p.Thr9109Ser						p.T9109S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27528	-			9111			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27325A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	9.422	1.083164	0.20309	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.5	-4.42	0.03579	.	.	.	.	.	T	0.12178	0.0296	N	0.24115	0.695	.	.	.	B	0.23990	0.095	B	0.20767	0.031	T	0.29671	-1.0004	8	0.87932	D	0	.	0.5924	0.00730	0.1927:0.3402:0.1947:0.2725	.	9109	B5ME49	.	S	9109	ENSP00000381008:T9109S	ENSP00000381008:T9109S	T	-	1	0	MUC16	8921121	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	-2.678000	0.00839	-0.967000	0.03582	0.378000	0.23410	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		75	330	0	0	0	1	0	75	330				
BBS4	585	broad.mit.edu	37	15	73029167	73029167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73029167A>G	ENST00000268057.4	+	15	1354	c.1313A>G	c.(1312-1314)aAa>aGa	p.K438R	BBS4_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|BBS4_ENST00000395205.2_Missense_Mutation_p.K446R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	438	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTCTGGACCAAACCAGTTAAA	0.507									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1312-1314)aAa>aGa		Bardet-Biedl syndrome 4							131.0	122.0	125.0					15																	73029167		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73029167A>G	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1313A>G	15.37:g.73029167A>G	ENSP00000268057:p.Lys438Arg					BBS4_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|BBS4_ENST00000395205.2_Missense_Mutation_p.K446R	p.K438R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			15	1354	+			438			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1313A>G	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582989	0.65992	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	L	0.43152	1.355	0.54753	D	0.999987	B;B;B	0.21753	0.06;0.06;0.035	B;B;B	0.21917	0.037;0.037;0.016	T	0.78645	-0.2123	10	0.33141	T	0.24	-7.3833	14.7172	0.69277	1.0:0.0:0.0:0.0	.	426;446;438	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	R	266;438;426;446	ENSP00000445964:K266R;ENSP00000268057:K438R;ENSP00000442492:K426R;ENSP00000378631:K446R	ENSP00000268057:K438R	K	+	2	0	BBS4	70816220	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	6.216000	0.72212	2.219000	0.72066	0.533000	0.62120	AAA		0.507	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		13	622	0	0	0	1	0	13	622				
CELSR2	1952	broad.mit.edu	37	1	109794810	109794810	+	Silent	SNP	C	C	T	rs199976988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109794810C>T	ENST00000271332.3	+	1	2170	c.2109C>T	c.(2107-2109)acC>acT	p.T703T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	703	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAATGTCACCGACGCCAACA	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22497	0.0		0.0	False		,,,				2504	0.0				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2107-2109)acC>acT		cadherin, EGF LAG seven-pass G-type receptor 2							84.0	77.0	79.0					1																	109794810		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794810C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2109C>T	1.37:g.109794810C>T							p.T703T	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2170	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	703			Cadherin 5.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.2109C>T	CCDS796.1																																																																																				0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		34	281	0	0	0	1	0	34	281				
TXNL1	9352	broad.mit.edu	37	18	54281785	54281785	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54281785C>T	ENST00000217515.6	-	6	809	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q|TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	202	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ATCCATAGATCGGGGTAGGTT	0.348																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(604-606)cGa>cAa		thioredoxin-like 1							103.0	97.0	99.0					18																	54281785		2203	4300	6503	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54281785C>T	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.605G>A	18.37:g.54281785C>T	ENSP00000217515:p.Arg202Gln					TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q|TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q	p.R202Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	6	809	-			202			PITH.			Missense_Mutation	SNP	ENST00000217515.6	37	c.605G>A	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670429	0.67814	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.16897	2.31	5.61	5.61	0.85477	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.062472	0.64402	D	0.000003	T	0.21801	0.0525	L	0.51853	1.615	0.80722	D	1	P;P	0.49307	0.575;0.922	B;B	0.43916	0.162;0.436	T	0.01725	-1.1287	10	0.20046	T	0.44	.	19.2387	0.93873	0.0:1.0:0.0:0.0	.	202;202	B2R960;O43396	.;TXNL1_HUMAN	Q	202;79	ENSP00000217515:R202Q	ENSP00000217515:R202Q	R	-	2	0	TXNL1	52432783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.636000	0.67848	2.621000	0.88768	0.650000	0.86243	CGA		0.348	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			36	191	0	0	0	1	0	36	191				
SKI	6497	broad.mit.edu	37	1	2160910	2160910	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160910G>T	ENST00000378536.4	+	1	777	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	235					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGGTGCCCGAGCTCTACAGCA	0.682																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(703-705)gaG>gaT		v-ski avian sarcoma viral oncogene homolog							16.0	20.0	18.0					1																	2160910		2188	4280	6468	SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160910G>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.705G>T	1.37:g.2160910G>T	ENSP00000367797:p.Glu235Asp						p.E235D	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	777	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		235					Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	c.705G>T	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559203	0.65538	.	.	ENSG00000157933	ENST00000378536	D	0.96200	-3.94	4.3	4.3	0.51218	SAND domain-like (2);c-SKI Smad4-binding (1);	0.061228	0.64402	D	0.000004	D	0.96636	0.8902	M	0.64997	1.995	0.54753	D	0.999982	D	0.71674	0.998	D	0.67103	0.949	D	0.95726	0.8770	10	0.30078	T	0.28	-21.7522	15.7222	0.77721	0.0:0.0:1.0:0.0	.	235	P12755	SKI_HUMAN	D	235	ENSP00000367797:E235D	ENSP00000367797:E235D	E	+	3	2	SKI	2150770	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.335000	0.72949	1.934000	0.56057	0.393000	0.25936	GAG		0.682	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		35	113	1	0	5.04308e-16	1	5.52873e-16	35	113				
DACT1	51339	broad.mit.edu	37	14	59112781	59112781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112781G>T	ENST00000335867.4	+	4	1464	c.1440G>T	c.(1438-1440)caG>caT	p.Q480H	DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H|DACT1_ENST00000395153.3_Missense_Mutation_p.Q443H|DACT1_ENST00000556859.1_Missense_Mutation_p.Q199H			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	480					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAAGCGCTCAGCTCTCAGGGG	0.557																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1327-1329)caG>caT		dishevelled-binding antagonist of beta-catenin 1							54.0	65.0	61.0					14																	59112781		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112781G>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1440G>T	14.37:g.59112781G>T	ENSP00000337439:p.Gln480His					DACT1_ENST00000395151.3_Missense_Mutation_p.Q199H|DACT1_ENST00000556859.1_Missense_Mutation_p.Q199H|DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H|DACT1_ENST00000335867.4_Missense_Mutation_p.Q480H	p.Q443H	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1476	+			480					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1329G>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633905	0.03584	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.35	1.47	0.22746	.	0.528596	0.21428	N	0.074714	T	0.41743	0.1172	M	0.65975	2.015	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39187	-0.9626	10	0.54805	T	0.06	-2.8615	7.1379	0.25539	0.2076:0.1239:0.6685:0.0	.	443;480	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	H	199;199;443;480;199	ENSP00000451598:Q199H;ENSP00000378581:Q199H;ENSP00000378582:Q443H;ENSP00000337439:Q480H;ENSP00000442850:Q199H	ENSP00000337439:Q480H	Q	+	3	2	DACT1	58182534	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.210000	0.09345	0.250000	0.21479	-0.244000	0.11960	CAG		0.557	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		19	685	1	0	3.99206e-14	1	4.32713e-14	19	685				
SNX5	27131	broad.mit.edu	37	20	17923780	17923780	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17923780A>C	ENST00000377768.3	-	13	1450	c.1138T>G	c.(1138-1140)Tct>Gct	p.S380A	SNX5_ENST00000377759.4_Missense_Mutation_p.S380A|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	380	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCCAGTTCAGACATTTCAATT	0.328																																						ENST00000377768.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(1138-1140)Tct>Gct		sorting nexin 5							167.0	183.0	177.0					20																	17923780		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17923780A>C	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.1138T>G	20.37:g.17923780A>C	ENSP00000366998:p.Ser380Ala					SNX5_ENST00000377759.4_Missense_Mutation_p.S380A|SNX5_ENST00000483485.1_5'UTR	p.S380A	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN			13	1450	-			380			BAR.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.1138T>G	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	A	3.231	-0.157421	0.06544	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.58060	0.36;0.36	5.49	5.49	0.81192	.	0.152923	0.64402	D	0.000014	T	0.11836	0.0288	N	0.00112	-2.095	0.35452	D	0.795741	B	0.02656	0.0	B	0.04013	0.001	T	0.37150	-0.9718	10	0.02654	T	1	-23.815	6.325	0.21239	0.6166:0.1465:0.0:0.2369	.	380	Q9Y5X3	SNX5_HUMAN	A	380	ENSP00000366998:S380A;ENSP00000366988:S380A	ENSP00000366988:S380A	S	-	1	0	SNX5	17871780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.365000	0.44196	2.207000	0.71202	0.533000	0.62120	TCT		0.328	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			211	994	0	0	0	1	0	211	994				
KANSL1	284058	broad.mit.edu	37	17	44143920	44143920	+	Missense_Mutation	SNP	C	C	T	rs202150313		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44143920C>T	ENST00000262419.6	-	6	2301	c.1831G>A	c.(1831-1833)Gtt>Att	p.V611I	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.V611I|KANSL1_ENST00000432791.1_Missense_Mutation_p.V611I|KANSL1_ENST00000572904.1_Missense_Mutation_p.V611I|KANSL1_ENST00000575318.1_Missense_Mutation_p.V611I	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	611					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAAAGAGGAACGATGCTGTTG	0.502																																						ENST00000262419.6																			0											c.(1831-1833)Gtt>Att		KAT8 regulatory NSL complex subunit 1		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	83.0	68.0	73.0		1831,1831,1831	2.9	0.8	17		73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	KIAA1267	NM_001193465.1,NM_001193466.1,NM_015443.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	611/1105,611/1106,611/1106	44143920	1,13005	2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44143920C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1831G>A	17.37:g.44143920C>T	ENSP00000262419:p.Val611Ile					KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.V611I|KANSL1_ENST00000575318.1_Missense_Mutation_p.V611I|KANSL1_ENST00000574590.1_Missense_Mutation_p.V611I|KANSL1_ENST00000572904.1_Missense_Mutation_p.V611I	p.V611I	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			6	2301	-			611					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1831G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	6.717	0.500917	0.12822	0.0	1.16E-4	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12039	2.72;2.72	5.03	2.9	0.33743	.	0.412793	0.25363	N	0.031216	T	0.07954	0.0199	L	0.36672	1.1	0.49483	D	0.999794	P;B	0.37398	0.593;0.422	B;B	0.32393	0.09;0.145	T	0.30534	-0.9975	10	0.22706	T	0.39	-2.6663	4.74	0.13008	0.0:0.6275:0.18:0.1925	.	611;611	C9JHY2;Q7Z3B3	.;K1267_HUMAN	I	611	ENSP00000262419:V611I;ENSP00000387393:V611I	ENSP00000262419:V611I	V	-	1	0	KIAA1267	41499742	0.359000	0.24955	0.789000	0.31954	0.512000	0.34134	0.686000	0.25392	1.108000	0.41662	-0.266000	0.10368	GTT		0.502	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		31	172	0	0	0	1	0	31	172				
YWHAH	7533	broad.mit.edu	37	22	32346405	32346405	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32346405C>T	ENST00000248975.5	+	1	360				YWHAH_ENST00000397492.1_Silent_p.C66C|YWHAH_ENST00000471374.1_Intron|snoU13_ENST00000459049.1_RNA	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta						apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						TTCCCTTCTGCGGTGGTGAGT	0.532																																					Ovarian(98;460 2060 9263 44007)	ENST00000397492.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(196-198)tgC>tgT		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide							99.0	93.0	95.0					22																	32346405		876	1991	2867	SO:0001627	intron_variant	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32346405C>T	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.87+5599C>T	22.37:g.32346405C>T						YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000248975.5_Intron	p.C66C			Q04917	1433F_HUMAN			2	410	+			0						Silent	SNP	ENST00000248975.5	37	c.198C>T	CCDS13901.1																																																																																				0.532	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		7	322	0	0	0	1	0	7	322				
NCKAP5L	57701	broad.mit.edu	37	12	50188802	50188802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50188802G>A	ENST00000335999.6	-	8	3042	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	943										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGAGCGGGGAGCCCCCGCCAG	0.652																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2839-2841)ggC>ggT		NCK-associated protein 5-like							13.0	14.0	14.0					12																	50188802		1927	4113	6040	SO:0001819	synonymous_variant	57701							g.chr12:50188802G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2841C>T	12.37:g.50188802G>A							p.G947G	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	3042	-			943					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2841C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	4.167	0.029544	0.08054	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.63355	0.2504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61088	-0.7133	4	.	.	.	-18.2225	11.476	0.50297	0.0845:0.0:0.9155:0.0	.	.	.	.	F	662	.	.	L	-	1	0	NCKAP5L	48475069	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.512000	0.45485	2.619000	0.88677	0.462000	0.41574	CTC		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		13	60	0	0	0	1	0	13	60				
CDK4	1019	broad.mit.edu	37	12	58145073	58145073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58145073G>T	ENST00000257904.6	-	3	636	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCAAACACCAGGGTTACCTTG	0.532			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(271-273)Ctg>Atg		cyclin-dependent kinase 4							182.0	153.0	163.0					12																	58145073		2203	4300	6503	SO:0001583	missense	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58145073G>T	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.271C>A	12.37:g.58145073G>T	ENSP00000257904:p.Leu91Met					CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron	p.L91M	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	636	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		91			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.271C>A	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235278	0.58886	.	.	ENSG00000135446	ENST00000257904;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;1.69;1.69;1.69	4.92	3.03	0.35002	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.56863	0.2014	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57300	-0.7835	10	0.72032	D	0.01	.	3.6756	0.08291	0.2819:0.0:0.5468:0.1713	.	91	P11802	CDK4_HUMAN	M	91;17;17;17;91;91;91	ENSP00000257904:L91M;ENSP00000447779:L17M;ENSP00000447274:L17M;ENSP00000449391:L17M;ENSP00000449179:L91M;ENSP00000448963:L91M;ENSP00000446763:L91M	ENSP00000257904:L91M	L	-	1	2	CDK4	56431340	0.971000	0.33674	1.000000	0.80357	0.982000	0.71751	1.644000	0.37228	0.741000	0.32674	-0.253000	0.11424	CTG		0.532	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		116	519	1	0	1.76152e-51	1	2.18623e-51	116	519				
SPAG5	10615	broad.mit.edu	37	17	26918763	26918763	+	Missense_Mutation	SNP	G	G	A	rs539914180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26918763G>A	ENST00000321765.5	-	4	1722	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	464					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGGTTTCTGGGTGAGGGACA	0.537																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1390-1392)Cca>Tca		sperm associated antigen 5							96.0	89.0	91.0					17																	26918763		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26918763G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1390C>T	17.37:g.26918763G>A	ENSP00000323300:p.Pro464Ser						p.P464S	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			4	1722	-	Lung NSC(42;0.00431)		464					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.1390C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107023	0.20714	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	2.57	0.30868	.	0.749706	0.12505	N	0.462985	T	0.15349	0.0370	N	0.11560	0.145	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.33214	-0.9877	9	0.07990	T	0.79	4.8732	4.7754	0.13176	0.1848:0.0:0.6461:0.1691	.	464	Q96R06	SPAG5_HUMAN	S	464	.	ENSP00000323300:P464S	P	-	1	0	SPAG5	23942890	0.001000	0.12720	0.007000	0.13788	0.992000	0.81027	0.478000	0.22212	0.306000	0.22856	0.655000	0.94253	CCA		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		95	431	0	0	0	1	0	95	431				
HARBI1	283254	broad.mit.edu	37	11	46637220	46637220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46637220C>T	ENST00000326737.3	-	2	815	c.568G>A	c.(568-570)Gag>Aag	p.E190K	ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000524625.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	190						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CAGTTTGTCTCCACGGTCATT	0.512																																						ENST00000326737.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(568-570)Gag>Aag		harbinger transposase derived 1							144.0	149.0	147.0					11																	46637220		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637220C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.568G>A	11.37:g.46637220C>T	ENSP00000317743:p.Glu190Lys						p.E190K	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			2	815	-			190					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.568G>A	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750490	0.89753	.	.	ENSG00000180423	ENST00000326737	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.68593	2.085	0.80722	D	1	P	0.48230	0.907	P	0.47915	0.561	T	0.67280	-0.5710	9	0.29301	T	0.29	-22.794	18.2823	0.90102	0.0:1.0:0.0:0.0	.	190	Q96MB7	HARB1_HUMAN	K	190	.	ENSP00000317743:E190K	E	-	1	0	HARBI1	46593796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.311000	0.77944	0.655000	0.94253	GAG		0.512	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		218	787	0	0	0	1	0	218	787				
POLRMT	5442	broad.mit.edu	37	19	623477	623477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:623477G>A	ENST00000588649.2	-	6	1351	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	423					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTGCTTGGCAACGTGGGC	0.682																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(1267-1269)Cca>Tca		polymerase (RNA) mitochondrial (DNA directed)							50.0	46.0	48.0					19																	623477		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:623477G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1267C>T	19.37:g.623477G>A	ENSP00000465759:p.Pro423Ser						p.P423S	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1351	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	423					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.1267C>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631471	0.29068	.	.	ENSG00000099821	ENST00000215591	T	0.40476	1.03	4.36	1.54	0.23209	.	0.496370	0.20887	N	0.083892	T	0.24928	0.0605	L	0.40543	1.245	0.09310	N	1	B	0.29253	0.239	B	0.24006	0.05	T	0.24476	-1.0159	10	0.07644	T	0.81	-11.3198	7.0383	0.25004	0.0889:0.0:0.6622:0.2488	.	423	O00411	RPOM_HUMAN	S	423	ENSP00000215591:P423S	ENSP00000215591:P423S	P	-	1	0	POLRMT	574477	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.608000	0.36847	0.132000	0.18615	0.561000	0.74099	CCA		0.682	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		74	315	0	0	0	1	0	74	315				
MSTO1	55154	broad.mit.edu	37	1	155582081	155582081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582081C>T	ENST00000245564.2	+	8	811	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	MSTO1_ENST00000368341.4_Silent_p.L228L|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	263					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AACCTGGGGCCTGCTACCTGG	0.552																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(787-789)Ctg>Ttg		misato 1, mitochondrial distribution and morphology regulator							52.0	57.0	55.0					1																	155582081		2203	4300	6503	SO:0001819	synonymous_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582081C>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.787C>T	1.37:g.155582081C>T						MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.L228L|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	p.L263L	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			8	811	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		263					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	37	c.787C>T	CCDS1114.1																																																																																				0.552	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		74	343	0	0	0	1	0	74	343				
ABCA12	26154	broad.mit.edu	37	2	215815605	215815605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815605C>A	ENST00000272895.7	-	45	7069	c.6850G>T	c.(6850-6852)Gag>Tag	p.E2284*	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2284	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTCTTACCTCTCCAGCAGGT	0.373																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6850-6852)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 12							110.0	111.0	111.0					2																	215815605		2203	4300	6503	SO:0001587	stop_gained	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215815605C>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6850G>T	2.37:g.215815605C>A	ENSP00000272895:p.Glu2284*					AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*	p.E2284*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	45	7069	-		Renal(323;0.127)	2284			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	c.6850G>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	47	13.600953	0.99752	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.61	5.61	0.85477	.	0.082820	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	.	.	.	X	2284;1966	.	ENSP00000272895:E2284X	E	-	1	0	ABCA12	215523850	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.978000	0.76147	2.639000	0.89480	0.555000	0.69702	GAG		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		23	423	1	0	2.39556e-15	1	2.61601e-15	23	423				
FBXW11	23291	broad.mit.edu	37	5	171305026	171305026	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171305026A>G	ENST00000265094.5	-	7	1034	c.897T>C	c.(895-897)gaT>gaC	p.D299D	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Silent_p.D265D|FBXW11_ENST00000296933.6_Silent_p.D286D|FBXW11_ENST00000425623.2_Silent_p.D267D	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	299					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACCGTAGAATCTGAAGAGC	0.458																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(856-858)gaT>gaC		F-box and WD repeat domain containing 11							111.0	96.0	101.0					5																	171305026		2203	4300	6503	SO:0001819	synonymous_variant	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171305026A>G	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.897T>C	5.37:g.171305026A>G						FBXW11_ENST00000265094.5_Silent_p.D299D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Silent_p.D265D|FBXW11_ENST00000425623.2_Silent_p.D267D	p.D286D	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	1228	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	299					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	c.858T>C	CCDS34289.1																																																																																				0.458	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		59	191	0	0	0	1	0	59	191				
GAPVD1	26130	broad.mit.edu	37	9	128099755	128099755	+	Missense_Mutation	SNP	G	G	A	rs138389331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099755G>A	ENST00000495955.1	+	17	3052	c.2762G>A	c.(2761-2763)cGt>cAt	p.R921H	GAPVD1_ENST00000470056.1_Missense_Mutation_p.R921H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	921					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGGAACCGGCGTCCAGGAAAT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18452	0.0		0.0	False		,,,				2504	0.001					ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2761-2763)cGt>cAt		GTPase activating protein and VPS9 domains 1		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	74.0	73.0	73.0		2843	6.2	1.0	9	dbSNP_134	73	0,8600		0,0,4300	yes	missense	GAPVD1	NM_015635.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	948/1488	128099755	2,13004	2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099755G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2762G>A	9.37:g.128099755G>A	ENSP00000419063:p.Arg921His					GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R921H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H	p.R921H			Q14C86	GAPD1_HUMAN			15	2922	+			921					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2762G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.544289|5.544289	0.96488|0.96488	4.54E-4|4.54E-4	0.0|0.0	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57007|0.57007	0.2024|0.2024	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.999;0.999;0.999;1.0|.	D;D;D;D;D;D|.	0.79784|.	0.989;0.984;0.989;0.989;0.989;0.993|.	T|T	0.47381|0.47381	-0.9122|-0.9122	9|5	0.62326|.	D|.	0.03|.	.|.	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	895;921;921;900;921;948|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	H|I	921;948;921;895;900;921;921;921;900|758	.|.	ENSP00000265956:R895H|.	R|V	+|+	2|1	0|0	GAPVD1|GAPVD1	127139576|127139576	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	9.187000|9.187000	0.94912|0.94912	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.522	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			8	340	0	0	0	1	0	8	340				
SMARCB1	6598	broad.mit.edu	37	22	24176329	24176329	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24176329C>T	ENST00000263121.7	+	9	1316	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	SMARCB1_ENST00000407422.3_Splice_Site_p.R365W|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Splice_Site_p.R328W|SMARCB1_ENST00000344921.6_Splice_Site_p.R383W	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	374					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTCTTCCAGGCGGATGAGGCG	0.657			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.L266_*386del(1)	central_nervous_system(3)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.e9-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							34.0	26.0	29.0					22																	24176329		2195	4299	6494	SO:0001630	splice_region_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24176329C>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1119-1C>T	22.37:g.24176329C>T						SMARCB1_ENST00000407422.3_Splice_Site_p.R365_splice|SMARCB1_ENST00000263121.7_Splice_Site_p.R374_splice|SMARCB1_ENST00000407082.3_Splice_Site_p.R328_splice	p.R383_splice			Q12824	SNF5_HUMAN			9	1354	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	374					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Splice_Site	SNP	ENST00000263121.7	37	c.1145_splice	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442226	0.63067	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.97529	-4.34;-4.42;-4.38;-4.27	4.94	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.919;0.964	D	0.98645	1.0677	10	0.87932	D	0	-9.4379	14.0034	0.64446	0.1526:0.8474:0.0:0.0	.	383;365;374	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	W	383;374;365;328	ENSP00000340883:R383W;ENSP00000263121:R374W;ENSP00000383984:R365W;ENSP00000385226:R328W	ENSP00000263121:R374W	R	+	1	2	SMARCB1	22506329	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	4.566000	0.60843	1.206000	0.43276	0.442000	0.29010	CGG		0.657	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073	Missense_Mutation	8	38	0	0	0	1	0	8	38				
CROCCP2	84809	broad.mit.edu	37	1	16958802	16958802	+	lincRNA	SNP	C	C	T	rs58876333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16958802C>T	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGTCCTTGTCGACCTGATCC	0.597																																						ENST00000412962.1																			0																																																			0							g.chr1:16958802C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958802C>T														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.597	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		12	205	0	0	0	1	0	12	205				
BCL7A	605	broad.mit.edu	37	12	122497016	122497016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122497016C>T	ENST00000261822.4	+	6	786	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	BCL7A_ENST00000538010.1_Missense_Mutation_p.P215S	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	194					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGGAGTGCCACCCTCTAAAAA	0.512			T	MYC	BNHL																																GBM(17;197 467 16477 23242 44349)	ENST00000538010.1				Dom	yes		12	12q24.1	605	T	B-cell CLL/lymphoma 7A			L	MYC		BNHL		0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(643-645)Ccc>Tcc		B-cell CLL/lymphoma 7A							83.0	79.0	80.0					12																	122497016		2203	4300	6503	SO:0001583	missense	605				negative regulation of transcription, DNA-dependent			g.chr12:122497016C>T	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.580C>T	12.37:g.122497016C>T	ENSP00000261822:p.Pro194Ser					BCL7A_ENST00000261822.4_Missense_Mutation_p.P194S	p.P215S	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)	6	3313	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		194					B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	c.643C>T	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045087	0.75846	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.65549	-0.16;0.71	5.47	5.47	0.80525	.	0.263731	0.38111	N	0.001805	T	0.66963	0.2843	L	0.29908	0.895	0.54753	D	0.99998	P;D	0.56746	0.914;0.977	B;P	0.55923	0.406;0.787	T	0.70733	-0.4791	10	0.87932	D	0	.	19.3196	0.94233	0.0:1.0:0.0:0.0	.	194;215	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	S	215;194	ENSP00000445868:P215S;ENSP00000261822:P194S	ENSP00000261822:P194S	P	+	1	0	BCL7A	120981399	0.999000	0.42202	0.950000	0.38849	0.663000	0.39108	5.296000	0.65698	2.549000	0.85964	0.655000	0.94253	CCC		0.512	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			8	264	0	0	0	1	0	8	264				
STAB1	23166	broad.mit.edu	37	3	52556948	52556948	+	Missense_Mutation	SNP	G	G	A	rs184802643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556948G>A	ENST00000321725.6	+	62	6978	c.6902G>A	c.(6901-6903)cGt>cAt	p.R2301H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2301	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TACTGCTTCCGTGTGCAAGGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17602	0.0		0.0	False		,,,				2504	0.0					ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6901-6903)cGt>cAt		stabilin 1							80.0	84.0	83.0					3																	52556948		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556948G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6902G>A	3.37:g.52556948G>A	ENSP00000312946:p.Arg2301His						p.R2301H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	62	6978	+			2301			Link.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6902G>A	CCDS33768.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.1	4.496293	0.85069	.	.	ENSG00000010327	ENST00000321725	T	0.31769	1.48	5.64	5.64	0.86602	C-type lectin fold (1);Link (2);C-type lectin-like (1);FAS1 domain (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.86178	2.8	0.49687	D	0.999818	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.67461	-0.5665	10	0.72032	D	0.01	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	188;2301	B3KSK0;Q9NY15	.;STAB1_HUMAN	H	2301	ENSP00000312946:R2301H	ENSP00000312946:R2301H	R	+	2	0	STAB1	52531988	1.000000	0.71417	0.957000	0.39632	0.783000	0.44284	5.696000	0.68287	2.661000	0.90470	0.486000	0.48141	CGT		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		78	397	0	0	0	1	0	78	397				
RGAG1	57529	broad.mit.edu	37	X	109696078	109696078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109696078C>T	ENST00000465301.2	+	3	2479	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	745										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGAGGGATGCAGATGAATTC	0.527																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2233-2235)Cag>Tag		retrotransposon gag domain containing 1							155.0	136.0	142.0					X																	109696078		2203	4300	6503	SO:0001587	stop_gained	57529							g.chrX:109696078C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2233C>T	X.37:g.109696078C>T	ENSP00000419786:p.Gln745*					RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	p.Q745*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2479	+			745					Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	c.2233C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093506	0.76756	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	.	.	.	4.15	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0686	0.47989	0.0:0.8149:0.1851:0.0	.	.	.	.	X	745	.	.	Q	+	1	0	RGAG1	109582734	0.004000	0.15560	0.011000	0.14972	0.023000	0.10783	1.169000	0.31871	1.087000	0.41251	0.600000	0.82982	CAG		0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		97	339	0	0	0	1	0	97	339				
HS3ST2	9956	broad.mit.edu	37	16	22926574	22926574	+	Silent	SNP	G	G	A	rs373421243		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926574G>A	ENST00000261374.3	+	2	1229	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	265					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGTACTTCCCGCTAGCTCAGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.001		0.0	False		,,,				2504	0.0					ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(793-795)ccG>ccA		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							108.0	99.0	102.0					16																	22926574		2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926574G>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.795G>A	16.37:g.22926574G>A							p.P265P	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1229	+			265					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.795G>A	CCDS10606.1																																																																																				0.607	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		187	680	0	0	0	1	0	187	680				
ATP5C1	509	broad.mit.edu	37	10	7840983	7840983	+	Missense_Mutation	SNP	C	C	T	rs146307767	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7840983C>T	ENST00000356708.7	+	4	333	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L|ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	85					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCAAGGGGCCTGAAGACAAG	0.358													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17227	0.0		0.0	False		,,,				2504	0.0				Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7																			0				breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(253-255)cCt>cTt		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							104.0	95.0	98.0					10																	7840983		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7840983C>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.254C>T	10.37:g.7840983C>T	ENSP00000349142:p.Pro85Leu					ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L	p.P85L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN			4	333	+			85					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.254C>T	CCDS31142.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.33	1.905580	0.33628	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.46	4.51	0.55191	ATPase, F1 complex, gamma subunit domain (1);	0.046924	0.85682	D	0.000000	T	0.45054	0.1323	N	0.16233	0.39	0.80722	D	1	B	0.24920	0.114	B	0.31495	0.131	T	0.35699	-0.9778	9	0.32370	T	0.25	-14.5997	16.1868	0.81960	0.1332:0.8667:0.0:0.0	.	85	P36542	ATPG_HUMAN	L	85;85;38	.	ENSP00000338568:P85L	P	+	2	0	ATP5C1	7880989	0.995000	0.38212	0.992000	0.48379	0.402000	0.30811	5.706000	0.68362	2.713000	0.92767	0.655000	0.94253	CCT		0.358	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		73	282	0	0	0	1	0	73	282				
TEX15	56154	broad.mit.edu	37	8	30700178	30700178	+	Missense_Mutation	SNP	G	G	A	rs372186254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30700178G>A	ENST00000256246.2	-	1	6430	c.6356C>T	c.(6355-6357)tCa>tTa	p.S2119L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2119					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACATCTGTTGAGTTATCTTT	0.368																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6355-6357)tCa>tTa		testis expressed 15							56.0	58.0	57.0					8																	30700178		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30700178G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6356C>T	8.37:g.30700178G>A	ENSP00000256246:p.Ser2119Leu						p.S2119L	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6430	-			2119						Missense_Mutation	SNP	ENST00000256246.2	37	c.6356C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461201	0.26248	.	.	ENSG00000133863	ENST00000256246	T	0.11604	2.76	5.68	4.78	0.61160	.	0.545093	0.16589	N	0.207875	T	0.11281	0.0275	L	0.54323	1.7	0.09310	N	1	B	0.32365	0.367	B	0.30316	0.114	T	0.23940	-1.0174	10	0.87932	D	0	.	7.0698	0.25171	0.0866:0.0:0.7338:0.1796	.	2119	Q9BXT5	TEX15_HUMAN	L	2119	ENSP00000256246:S2119L	ENSP00000256246:S2119L	S	-	2	0	TEX15	30819720	0.998000	0.40836	0.017000	0.16124	0.967000	0.64934	3.336000	0.52113	1.336000	0.45506	0.591000	0.81541	TCA		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			46	220	0	0	0	1	0	46	220				
ADAMTS20	80070	broad.mit.edu	37	12	43777426	43777426	+	Missense_Mutation	SNP	G	G	T	rs138413325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43777426G>T	ENST00000389420.3	-	31	4731	c.4732C>A	c.(4732-4734)Ctt>Att	p.L1578I		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1578	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGGATGTAAGAGATATGGTT	0.373																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4732-4734)Ctt>Att		ADAM metallopeptidase with thrombospondin type 1 motif, 20							146.0	134.0	138.0					12																	43777426		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777426G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4732C>A	12.37:g.43777426G>T	ENSP00000374071:p.Leu1578Ile						p.L1578I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	31	4731	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1578			TSP type-1 13.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4732C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599366	0.03744	.	.	ENSG00000173157	ENST00000389420	T	0.58797	0.31	4.7	2.8	0.32819	.	0.702414	0.12233	N	0.487297	T	0.49115	0.1538	L	0.46157	1.445	0.54753	D	0.999988	B	0.27068	0.167	B	0.22601	0.04	T	0.35475	-0.9787	10	0.36615	T	0.2	.	11.2882	0.49234	0.0:0.2552:0.6129:0.1319	.	1578	P59510	ATS20_HUMAN	I	1578	ENSP00000374071:L1578I	ENSP00000374071:L1578I	L	-	1	0	ADAMTS20	42063693	0.905000	0.30787	0.291000	0.24904	0.014000	0.08584	0.870000	0.28010	0.623000	0.30267	0.655000	0.94253	CTT		0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		28	140	1	0	8.24728e-16	1	9.03206e-16	28	140				
GLE1	2733	broad.mit.edu	37	9	131277836	131277836	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131277836C>A	ENST00000309971.4	+	3	456	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	117					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CACACAGAATCTATGGTACTT	0.398																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(349-351)tCt>tAt		GLE1 RNA export mediator							64.0	55.0	58.0					9																	131277836		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131277836C>A	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.350C>A	9.37:g.131277836C>A	ENSP00000308622:p.Ser117Tyr					GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y	p.S117Y	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			3	456	+			117					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.350C>A	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482319	0.44147	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.66280	-0.2;0.21	5.29	3.03	0.35002	.	0.591936	0.18162	N	0.149753	T	0.39759	0.1090	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.24882	0.028;0.113	B;B	0.23574	0.021;0.047	T	0.18398	-1.0338	10	0.34782	T	0.22	-0.0107	6.0264	0.19658	0.0:0.6634:0.1937:0.1429	.	117;117	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	Y	117	ENSP00000308622:S117Y;ENSP00000361856:S117Y	ENSP00000308622:S117Y	S	+	2	0	GLE1	130317657	0.000000	0.05858	0.002000	0.10522	0.735000	0.41995	0.530000	0.23036	1.198000	0.43158	0.462000	0.41574	TCT		0.398	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		24	124	1	0	2.79863e-10	1	2.965e-10	24	124				
IFI44L	10964	broad.mit.edu	37	1	79102805	79102805	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79102805T>A	ENST00000370751.5	+	6	1144	c.965T>A	c.(964-966)gTc>gAc	p.V322D	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	322					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGGCTTATGTCTTAGACATC	0.368																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(964-966)gTc>gAc		interferon-induced protein 44-like							160.0	162.0	161.0					1																	79102805		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79102805T>A	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.965T>A	1.37:g.79102805T>A	ENSP00000359787:p.Val322Asp					IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D|IFI44L_ENST00000476521.1_3'UTR	p.V322D	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			6	1144	+			322					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.965T>A	CCDS687.2	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808279	0.70797	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.56444	2.27;0.46	4.08	4.08	0.47627	.	0.000000	0.64402	D	0.000007	T	0.66674	0.2813	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.73244	-0.4044	10	0.87932	D	0	-11.108	11.2061	0.48771	0.0:0.0:0.0:1.0	.	322	Q53G44	IF44L_HUMAN	D	322;64	ENSP00000359787:V322D;ENSP00000342833:V64D	ENSP00000342833:V64D	V	+	2	0	IFI44L	78875393	0.998000	0.40836	0.417000	0.26559	0.861000	0.49209	3.583000	0.53928	1.790000	0.52503	0.377000	0.23210	GTC		0.368	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		114	374	0	0	0	1	0	114	374				
ZBED1	9189	broad.mit.edu	37	X	2407814	2407814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2407814C>T	ENST00000381223.4	-	2	1150	c.947G>A	c.(946-948)cGc>cAc	p.R316H	ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	316					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCAGTTTGCGGCAGCGCGA	0.622																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(946-948)cGc>cAc		zinc finger, BED-type containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG,	0,4406		0,0,2203	64.0	60.0	61.0		947,947,947,	3.1	0.0	X		61	1,8591		0,1,4295	no	missense,missense,missense,intron	ZBED1,DHRSX	NM_001171135.1,NM_001171136.1,NM_004729.3,NM_145177.2	29,29,29,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,	316/695,316/695,316/695,	2407814	1,12997	2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407814C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.947G>A	X.37:g.2407814C>T	ENSP00000370621:p.Arg316His					ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H|DHRSX_ENST00000334651.5_Intron	p.R316H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1150	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	316					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.947G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991842	0.35131	0.0	1.16E-4	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.28666	1.6;1.6;1.6	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.447401	0.19468	N	0.113536	T	0.52709	0.1751	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.44847	-0.9301	9	0.52906	T	0.07	-15.8715	13.6519	0.62316	0.0:1.0:0.0:0.0	.	316	O96006	ZBED1_HUMAN	H	316	ENSP00000370621:R316H;ENSP00000370620:R316H;ENSP00000370616:R316H	ENSP00000370616:R316H	R	-	2	0	ZBED1	2417814	0.999000	0.42202	0.022000	0.16811	0.013000	0.08279	5.371000	0.66150	1.155000	0.42497	0.519000	0.50382	CGC		0.622	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		78	246	0	0	0	1	0	78	246				
RGAG1	57529	broad.mit.edu	37	X	109695829	109695829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109695829G>T	ENST00000465301.2	+	3	2230	c.1984G>T	c.(1984-1986)Gcc>Tcc	p.A662S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	662										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GACAGACACAGCCTCTGGAGG	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1984-1986)Gcc>Tcc		retrotransposon gag domain containing 1							105.0	88.0	94.0					X																	109695829		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695829G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1984G>T	X.37:g.109695829G>T	ENSP00000419786:p.Ala662Ser					RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	p.A662S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2230	+			662					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1984G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231386	0.09969	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.55052	0.54;0.54	4.21	2.44	0.29823	.	0.442010	0.16858	N	0.196635	T	0.42607	0.1210	L	0.46157	1.445	0.09310	N	1	B	0.22683	0.073	B	0.30855	0.121	T	0.31475	-0.9942	9	.	.	.	-1.1739	5.4762	0.16697	0.3577:0.0:0.6423:0.0	.	662	Q8NET4	RGAG1_HUMAN	S	662	ENSP00000419786:A662S;ENSP00000441452:A662S	.	A	+	1	0	RGAG1	109582485	0.946000	0.32159	0.009000	0.14445	0.335000	0.28730	1.758000	0.38410	0.544000	0.28883	0.529000	0.55759	GCC		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		76	243	1	0	1.68946e-44	1	2.06755e-44	76	243				
GALNT8	26290	broad.mit.edu	37	12	4881757	4881757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4881757C>T	ENST00000252318.2	+	11	2245	c.1908C>T	c.(1906-1908)agC>agT	p.S636S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	636					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGACCAACAGCCAGTGATCCT	0.498																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1906-1908)agC>agT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							80.0	73.0	76.0					12																	4881757		2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4881757C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1908C>T	12.37:g.4881757C>T							p.S636S	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			11	2245	+			636					B2RU02	Silent	SNP	ENST00000252318.2	37	c.1908C>T	CCDS8533.1																																																																																				0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		25	168	0	0	0	1	0	25	168				
DDAH1	23576	broad.mit.edu	37	1	85930637	85930637	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85930637C>A	ENST00000284031.8	-	1	186	c.92G>T	c.(91-93)aGa>aTa	p.R31I	RP11-131L23.2_ENST00000610230.1_lincRNA|DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000539042.1_Missense_Mutation_p.R31I|DDAH1_ENST00000426972.3_5'Flank|DDAH1_ENST00000483110.1_Intron	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	31					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTTGGCGCTTCTCAGCGCGTG	0.751																																						ENST00000284031.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5						c.(91-93)aGa>aTa		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						6.0	7.0	7.0					1																	85930637		2103	4156	6259	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85930637C>A	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.92G>T	1.37:g.85930637C>A	ENSP00000284031:p.Arg31Ile					DDAH1_ENST00000539042.1_Missense_Mutation_p.R31I|DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000483110.1_Intron	p.R31I	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	1	186	-			31					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.92G>T	CCDS705.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410933	0.42817	.	.	ENSG00000153904	ENST00000284031;ENST00000539042	.	.	.	4.52	4.52	0.55395	.	0.048785	0.52532	D	0.000069	T	0.68348	0.2991	M	0.81497	2.545	0.80722	D	1	D	0.55605	0.972	P	0.53861	0.736	T	0.70594	-0.4829	9	0.38643	T	0.18	-9.9586	17.2126	0.86935	0.0:1.0:0.0:0.0	.	31	O94760	DDAH1_HUMAN	I	31	.	ENSP00000284031:R31I	R	-	2	0	DDAH1	85703225	0.944000	0.32072	0.481000	0.27354	0.003000	0.03518	6.518000	0.73764	2.246000	0.74042	0.591000	0.81541	AGA		0.751	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1			4	32	1	0	0.014758	1	0.0148251	4	32				
TTC24	164118	broad.mit.edu	37	1	156552183	156552183	+	Nonsense_Mutation	SNP	T	T	G	rs371550971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156552183T>G	ENST00000368237.3	+	2	867	c.867T>G	c.(865-867)taT>taG	p.Y289*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.Y289*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	289										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGCAACTATCAGGAAGCTC	0.617																																						ENST00000368236.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20						c.(865-867)taT>taG		tetratricopeptide repeat domain 24							41.0	42.0	42.0					1																	156552183		1907	4128	6035	SO:0001587	stop_gained	164118						binding	g.chr1:156552183T>G		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.867T>G	1.37:g.156552183T>G	ENSP00000357220:p.Tyr289*					TTC24_ENST00000368237.3_Nonsense_Mutation_p.Y289*|TTC24_ENST00000495690.1_3'UTR	p.Y289*	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN			3	903	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289					Q5T3H7	Nonsense_Mutation	SNP	ENST00000368237.3	37	c.867T>G	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.357375|4.357375	0.82243|0.82243	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.38|4.38	-1.59|-1.59	0.08453|0.08453	.|.	.|0.322824	.|0.22670	.|N	.|0.057070	T|.	0.31136|.	0.0787|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19778|.	-1.0295|.	3|.	.|.	.|.	.|.	-7.8739|-7.8739	9.9833|9.9833	0.41826|0.41826	0.0:0.5843:0.0:0.4157|0.0:0.5843:0.0:0.4157	.|.	.|.	.|.	.|.	S|X	62;54|289	.|.	.|.	I|Y	+|+	2|3	0|2	TTC24|TTC24	154818807|154818807	0.000000|0.000000	0.05858|0.05858	0.830000|0.830000	0.32933|0.32933	0.834000|0.834000	0.47266|0.47266	-0.407000|-0.407000	0.07178|0.07178	-0.152000|-0.152000	0.11156|0.11156	0.379000|0.379000	0.24179|0.24179	ATC|TAT		0.617	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		33	119	0	0	0	1	0	33	119				
RIC8A	60626	broad.mit.edu	37	11	209565	209565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:209565C>T	ENST00000526104.1	+	3	1635	c.291C>T	c.(289-291)gaC>gaT	p.D97D	BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000325207.5_Silent_p.D97D|RIC8A_ENST00000527696.1_Silent_p.D91D|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000529614.2_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	97					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTATGCTGACATCTCTGTCT	0.612																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(289-291)gaC>gaT		RIC8 guanine nucleotide exchange factor A							58.0	57.0	58.0					11																	209565		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209565C>T	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.291C>T	11.37:g.209565C>T						RIC8A_ENST00000527696.1_Silent_p.D91D|RIC8A_ENST00000325207.5_Silent_p.D97D	p.D97D			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	1635	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	97					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.291C>T																																																																																					0.612	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		61	228	0	0	0	1	0	61	228				
ADCY5	111	broad.mit.edu	37	3	123044174	123044174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123044174G>A	ENST00000462833.1	-	8	3295	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R328W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	695					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCACCATCCGCTTCATCTCC	0.627																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2083-2085)Cgg>Tgg		adenylate cyclase 5							76.0	75.0	76.0					3																	123044174		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123044174G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2083C>T	3.37:g.123044174G>A	ENSP00000419361:p.Arg695Trp					ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R328W	p.R695W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	8	3295	-			695					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2083C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930897	0.73327	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.23	3.23	0.37069	.	0.000000	0.64402	D	0.000001	D	0.82449	0.5039	L	0.55481	1.735	0.54753	D	0.999987	P;D	0.76494	0.797;0.999	B;P	0.61658	0.102;0.892	D	0.84288	0.0498	10	0.72032	D	0.01	.	12.8138	0.57654	0.0:0.0:0.6016:0.3984	.	695;328	O95622;B3KWA8	ADCY5_HUMAN;.	W	695;328;345;254	ENSP00000419361:R695W;ENSP00000418537:R328W;ENSP00000308685:R345W;ENSP00000420082:R254W	ENSP00000308685:R345W	R	-	1	2	ADCY5	124526864	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.795000	0.47861	1.377000	0.46286	0.655000	0.94253	CGG		0.627	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		94	373	0	0	0	1	0	94	373				
AP3D1	8943	broad.mit.edu	37	19	2121030	2121030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121030C>T	ENST00000345016.5	-	14	1543	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T|AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000355272.6_Missense_Mutation_p.A438T|AP3D1_ENST00000590683.1_5'Flank	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	438					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTTGGGCGGCGATGAGGTGG	0.662																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1312-1314)Gcc>Acc		adaptor-related protein complex 3, delta 1 subunit							61.0	69.0	66.0					19																	2121030		2174	4272	6446	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121030C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1312G>A	19.37:g.2121030C>T	ENSP00000344055:p.Ala438Thr					AP3D1_ENST00000345016.5_Missense_Mutation_p.A438T|AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T	p.A438T	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1518	-		Hepatocellular(1079;0.137)	438					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1312G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992887	0.93167	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.67	4.67	0.58626	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.74023	0.866;0.97;0.982	T	0.68029	-0.5517	10	0.72032	D	0.01	-8.4116	16.537	0.84375	0.0:1.0:0.0:0.0	.	438;438;347	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	T	347;438;438;438;269	ENSP00000349398:A347T;ENSP00000344055:A438T;ENSP00000347416:A438T;ENSP00000342321:A269T	ENSP00000341579:A438T	A	-	1	0	AP3D1	2072030	1.000000	0.71417	0.658000	0.29665	0.674000	0.39518	7.641000	0.83368	2.161000	0.67846	0.462000	0.41574	GCC		0.662	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			53	265	0	0	0	1	0	53	265				
SPTBN2	6712	broad.mit.edu	37	11	66468126	66468126	+	Missense_Mutation	SNP	C	C	A	rs367736142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66468126C>A	ENST00000533211.1	-	17	3775	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1148					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCCCAGGGCCTCCAGTCGCT	0.697																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3442-3444)gaG>gaT		spectrin, beta, non-erythrocytic 2							23.0	25.0	24.0					11																	66468126		2195	4292	6487	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66468126C>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3444G>T	11.37:g.66468126C>A	ENSP00000432568:p.Glu1148Asp					SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D	p.E1148D			O15020	SPTN2_HUMAN			17	3775	-			1148					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3444G>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827036	0.50739	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.56	0.915	0.19366	.	0.060221	0.64402	D	0.000002	T	0.19446	0.0467	N	0.04724	-0.175	0.37733	D	0.925334	B	0.24186	0.099	B	0.21360	0.034	T	0.08994	-1.0695	10	0.11794	T	0.64	.	6.7507	0.23485	0.0:0.5533:0.0:0.4467	.	1148	O15020	SPTN2_HUMAN	D	1148	ENSP00000432568:E1148D;ENSP00000311489:E1148D;ENSP00000433593:E1148D	ENSP00000311489:E1148D	E	-	3	2	SPTBN2	66224702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.956000	0.29202	0.285000	0.22329	-0.339000	0.08088	GAG		0.697	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		41	192	1	0	1.22674e-20	1	1.37621e-20	41	192				
BMP1	649	broad.mit.edu	37	8	22067082	22067082	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22067082C>T	ENST00000306385.5	+	19	3370	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	900	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGAAGGCTACGGCGTGGAGC	0.592																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2698-2700)taC>taT		bone morphogenetic protein 1							300.0	223.0	249.0					8																	22067082		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22067082C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2700C>T	8.37:g.22067082C>T						BMP1_ENST00000354870.5_3'UTR	p.Y900Y	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	19	3370	+			900			CUB 5.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.2700C>T	CCDS6026.1																																																																																				0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		170	815	0	0	0	1	0	170	815				
CBS	875	broad.mit.edu	37	21	44486459	44486459	+	Silent	SNP	G	G	A	rs374438247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44486459G>A	ENST00000398165.3	-	5	604	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Silent_p.G27G|CBS_ENST00000352178.5_Silent_p.G115G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	115					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	TCACGCTCCCGCCCGCGTTGA	0.627																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(343-345)ggC>ggT		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	G	,,	1,4405	2.1+/-5.4	0,1,2202	69.0	63.0	65.0		345,345,345	-3.3	1.0	21		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CBS	NM_000071.2,NM_001178008.1,NM_001178009.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	115/552,115/552,115/552	44486459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44486459G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.345C>T	21.37:g.44486459G>A						CBS_ENST00000470912.1_5'UTR|CBS_ENST00000352178.5_Silent_p.G115G|CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000544202.1_Silent_p.G27G	p.G115G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			5	604	-			115					B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	ENST00000398165.3	37	c.345C>T	CCDS13693.1																																																																																				0.627	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		50	398	0	0	0	1	0	50	398				
GABRA5	2558	broad.mit.edu	37	15	27188450	27188450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27188450G>A	ENST00000335625.5	+	10	1854	c.966G>A	c.(964-966)tgG>tgA	p.W322*	GABRA5_ENST00000400081.3_Nonsense_Mutation_p.W322*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.W322*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	322					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCATGGACTGGTTCATAGCCG	0.582																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(964-966)tgG>tgA		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						28.0	30.0	30.0					15																	27188450		2128	4273	6401	SO:0001587	stop_gained	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27188450G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.966G>A	15.37:g.27188450G>A	ENSP00000335592:p.Trp322*					GABRA5_ENST00000400081.3_Nonsense_Mutation_p.W322*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.W322*	p.W322*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1854	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	322					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	ENST00000335625.5	37	c.966G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	-	40	8.056675	0.98632	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2599	0.90031	0.0:0.0:1.0:0.0	.	.	.	.	X	322	.	ENSP00000335592:W322X	W	+	3	0	GABRA5	24771196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.592000	0.98245	2.626000	0.88956	0.651000	0.88453	TGG		0.582	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			12	35	0	0	0	1	0	12	35				
BRWD3	254065	broad.mit.edu	37	X	79979292	79979292	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79979292T>C	ENST00000373275.4	-	16	1821	c.1605A>G	c.(1603-1605)ggA>ggG	p.G535G	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	535					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGCAAATGTCCATGAGAAT	0.373																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1603-1605)ggA>ggG		bromodomain and WD repeat domain containing 3							93.0	83.0	86.0					X																	79979292		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79979292T>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1605A>G	X.37:g.79979292T>C							p.G535G	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			16	1821	-			535					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.1605A>G	CCDS14447.1																																																																																				0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		61	190	0	0	0	1	0	61	190				
TGFBR2	7048	broad.mit.edu	37	3	30732970	30732970	+	Missense_Mutation	SNP	G	G	A	rs104893815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30732970G>A	ENST00000295754.5	+	7	1965	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2). {ECO:0000269|PubMed:15731757}.|R -> H (in LDS2). {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16959974}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCAGAGGCCCGTCTCACAGCC	0.597																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.R528H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM050762	TGFBR2	M	rs104893815	c.(1582-1584)cGt>cAt		transforming growth factor, beta receptor II (70/80kDa)							72.0	68.0	69.0					3																	30732970		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732970G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1583G>A	3.37:g.30732970G>A	ENSP00000295754:p.Arg528His					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	p.R528H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1965	+			528		R -> C (in LDS1B).|R -> H (in LDS1B).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1583G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592391	0.96590	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99264	-5.65;-5.65	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98507	4.25	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	9	0.87932	D	0	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	528;553	P37173;D2JYI1	TGFR2_HUMAN;.	H	528;553;358	ENSP00000295754:R528H;ENSP00000351905:R553H	ENSP00000295754:R528H	R	+	2	0	TGFBR2	30707974	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.869000	0.99810	2.803000	0.96430	0.650000	0.86243	CGT		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			71	335	0	0	0	1	0	71	335				
HBQ1	3049	broad.mit.edu	37	16	231010	231010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:231010C>T	ENST00000199708.2	+	3	366	c.332C>T	c.(331-333)gCc>gTc	p.A111V	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	111					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GTAACCCTCGCCCGGCACTAC	0.706																																						ENST00000199708.2																			0				large_intestine(1)	1						c.(331-333)gCc>gTc		hemoglobin, theta 1							23.0	27.0	26.0					16																	231010		2203	4299	6502	SO:0001583	missense	3049					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:231010C>T	BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.332C>T	16.37:g.231010C>T	ENSP00000199708:p.Ala111Val						p.A111V	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN			3	366	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	111					Q13723|Q1W6G5	Missense_Mutation	SNP	ENST00000199708.2	37	c.332C>T	CCDS10400.1	.	.	.	.	.	.	.	.	.	.	c	17.88	3.497944	0.64186	.	.	ENSG00000086506	ENST00000199708	D	0.94966	-3.57	3.83	2.87	0.33458	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.89095	3.005	0.45899	D	0.998748	D	0.89917	1.0	D	0.83275	0.996	D	0.96715	0.9528	10	0.87932	D	0	-22.2468	10.336	0.43850	0.0:0.9026:0.0:0.0974	.	111	P09105	HBAT_HUMAN	V	111	ENSP00000199708:A111V	ENSP00000199708:A111V	A	+	2	0	HBQ1	171010	0.968000	0.33430	0.881000	0.34555	0.993000	0.82548	2.412000	0.44609	0.819000	0.34492	0.486000	0.48141	GCC		0.706	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	NM_005331		38	182	0	0	0	1	0	38	182				
SYNE1	23345	broad.mit.edu	37	6	152477184	152477184	+	Missense_Mutation	SNP	G	G	T	rs201895131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152477184G>T	ENST00000367255.5	-	132	24440	c.23839C>A	c.(23839-23841)Ctc>Atc	p.L7947I	SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7947					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACAGGTTGAGGACAGATGCA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23839-23841)Ctc>Atc		spectrin repeat containing, nuclear envelope 1							140.0	126.0	131.0					6																	152477184		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152477184G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23839C>A	6.37:g.152477184G>T	ENSP00000356224:p.Leu7947Ile	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I	p.L7947I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	132	24440	-		Ovarian(120;0.0955)	7947					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23839C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738670	0.89573	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.56	5.56	0.83823	.	0.000000	0.52532	D	0.000072	T	0.69869	0.3159	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.968	T	0.72500	-0.4274	10	0.59425	D	0.04	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	7947;7947;7876;7876;149	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7947;102;593;7876;7947;7876;7559;2471;109;104;869;102	ENSP00000356224:L7947I;ENSP00000441052:L102I;ENSP00000356226:L593I;ENSP00000396024:L7876I;ENSP00000265368:L7947I;ENSP00000390975:L7876I;ENSP00000341887:L7559I;ENSP00000349276:L2471I;ENSP00000356220:L869I;ENSP00000346701:L102I	ENSP00000265368:L7947I	L	-	1	0	SYNE1	152518877	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.722000	0.68485	2.771000	0.95319	0.650000	0.86243	CTC		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		65	299	1	0	4.80186e-42	1	5.84129e-42	65	299				
TMED8	283578	broad.mit.edu	37	14	77810118	77810118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77810118G>A	ENST00000216468.7	-	4	431	c.376C>T	c.(376-378)Cag>Tag	p.Q126*		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	126					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGTTCAGACTGGATCATAACG	0.448																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(376-378)Cag>Tag		transmembrane emp24 protein transport domain containing 8							156.0	150.0	152.0					14																	77810118		2203	4300	6503	SO:0001587	stop_gained	283578				transport	integral to membrane		g.chr14:77810118G>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.376C>T	14.37:g.77810118G>A	ENSP00000216468:p.Gln126*						p.Q126*	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	431	-			126					B3KTI6|Q3MJB0|Q9P1V9	Nonsense_Mutation	SNP	ENST00000216468.7	37	c.376C>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492065	0.96339	.	.	ENSG00000100580	ENST00000216468	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000216468:Q126X	Q	-	1	0	TMED8	76879871	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.359000	0.73060	2.833000	0.97629	0.655000	0.94253	CAG		0.448	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		119	601	0	0	0	1	0	119	601				
CFAP54	144535	broad.mit.edu	37	12	97157959	97157959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97157959G>A	ENST00000524981.4	+	59	8094	c.8071G>A	c.(8071-8073)Gaa>Aaa	p.E2691K				Q96N23	CL055_HUMAN		0																	TTCTGTTAAAGAAACATCAGC	0.333																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3424-3426)Gaa>Aaa									120.0	119.0	119.0					12																	97157959		2203	4300	6503	SO:0001583	missense	0							g.chr12:97157959G>A																												ENST00000524981.4:c.8071G>A	12.37:g.97157959G>A	ENSP00000431759:p.Glu2691Lys						p.E1142K			Q6ZTY8	CL063_HUMAN			26	3424	+			1116						Missense_Mutation	SNP	ENST00000524981.4	37	c.3424G>A		.	.	.	.	.	.	.	.	.	.	G	15.05	2.718102	0.48622	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.38	5.38	0.77491	.	0.204668	0.33938	N	0.004418	T	0.51907	0.1702	L	0.56769	1.78	0.09310	N	0.999997	P	0.40731	0.728	B	0.43623	0.425	T	0.53479	-0.8433	9	0.56958	D	0.05	-12.0459	16.8994	0.86109	0.0:0.0:1.0:0.0	.	1116	Q6ZTY8	CL063_HUMAN	K	2691;1116	.	ENSP00000345466:E1116K	E	+	1	0	C12orf63	95682090	0.130000	0.22417	0.397000	0.26308	0.071000	0.16799	1.712000	0.37940	2.512000	0.84698	0.561000	0.74099	GAA		0.333	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			21	135	0	0	0	1	0	21	135				
SLC6A6	6533	broad.mit.edu	37	3	14489097	14489097	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489097C>A	ENST00000454876.2	+	5	701	c.372C>A	c.(370-372)ggC>ggA	p.G124G	SLC6A6_ENST00000416216.2_Silent_p.G124G|SLC6A6_ENST00000360861.3_Silent_p.G124G|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	124					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAGGTATCGGCTATGCCTCCG	0.542																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(370-372)ggC>ggA		solute carrier family 6 (neurotransmitter transporter), member 6							386.0	371.0	376.0					3																	14489097		2203	4300	6503	SO:0001819	synonymous_variant	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489097C>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.372C>A	3.37:g.14489097C>A						SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Silent_p.G124G|SLC6A6_ENST00000360861.3_Silent_p.G124G	p.G124G			P31641	SC6A6_HUMAN			5	701	+			124					B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	c.372C>A	CCDS33705.1																																																																																				0.542	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		461	1900	1	0	2.83946e-81	1	3.63311e-81	461	1900				
TMEM182	130827	broad.mit.edu	37	2	103378707	103378707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103378707G>T	ENST00000412401.2	+	1	236	c.31G>T	c.(31-33)Gct>Tct	p.A11S	TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	11						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTTCTTTGGAGCTCTCTTTGG	0.368																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(31-33)Gct>Tct		transmembrane protein 182							142.0	134.0	137.0					2																	103378707		2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103378707G>T	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.31G>T	2.37:g.103378707G>T	ENSP00000394178:p.Ala11Ser					TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	p.A11S	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			1	236	+			11					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.31G>T	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314998	0.81358	.	.	ENSG00000170417	ENST00000412401	T	0.55413	0.52	6.02	6.02	0.97574	.	0.045126	0.85682	D	0.000000	T	0.38878	0.1057	N	0.22421	0.69	0.30613	N	0.759332	P	0.37781	0.608	B	0.29862	0.108	T	0.51679	-0.8675	10	0.66056	D	0.02	-15.8891	16.7888	0.85582	0.0:0.0:0.8707:0.1293	.	11	Q6ZP80	TM182_HUMAN	S	11	ENSP00000394178:A11S	ENSP00000394178:A11S	A	+	1	0	TMEM182	102745139	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	4.570000	0.60872	2.865000	0.98341	0.655000	0.94253	GCT		0.368	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		76	327	1	0	5.7554e-21	1	6.47049e-21	76	327				
OGDH	4967	broad.mit.edu	37	7	44685096	44685096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44685096G>A	ENST00000222673.5	+	3	435	c.393G>A	c.(391-393)caG>caA	p.Q131Q	OGDH_ENST00000447398.1_Silent_p.Q131Q|OGDH_ENST00000444676.1_Silent_p.Q131Q|OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000543843.1_Silent_p.Q71Q|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	131					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TGGCAGTGCAGTCGCTCATCA	0.607																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(391-393)caG>caA		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						66.0	54.0	58.0					7																	44685096		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44685096G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.393G>A	7.37:g.44685096G>A						OGDH_ENST00000447398.1_Silent_p.Q131Q|OGDH_ENST00000543843.1_Silent_p.Q71Q|OGDH_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Silent_p.Q131Q	p.Q131Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	435	+			131					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.393G>A	CCDS34627.1																																																																																				0.607	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			66	270	0	0	0	1	0	66	270				
ZNF692	55657	broad.mit.edu	37	1	249151671	249151671	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249151671A>G	ENST00000306601.4	-	4	403	c.237T>C	c.(235-237)ggT>ggC	p.G79G	ZNF692_ENST00000366471.3_Silent_p.G79G|ZNF692_ENST00000451251.1_Silent_p.G84G|ZNF692_ENST00000427146.1_Silent_p.G79G|ZNF692_ENST00000468455.1_5'UTR|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000366469.5_Silent_p.G79G	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GATACTGCAGACCTTTTGGAG	0.632																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(250-252)ggT>ggC		zinc finger protein 692							37.0	42.0	41.0					1																	249151671		2203	4300	6503	SO:0001819	synonymous_variant	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151671A>G	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.237T>C	1.37:g.249151671A>G						ZNF692_ENST00000427146.1_Silent_p.G79G|ZNF692_ENST00000366471.3_Silent_p.G79G|ZNF692_ENST00000366469.5_Silent_p.G79G|ZNF692_ENST00000306601.4_Silent_p.G79G|ZNF692_ENST00000468455.1_5'UTR	p.G84G	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	597	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	79					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	c.252T>C	CCDS31127.1																																																																																				0.632	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		11	413	0	0	0	1	0	11	413				
ITPRIP	85450	broad.mit.edu	37	10	106075652	106075652	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075652A>G	ENST00000337478.1	-	2	329	c.158T>C	c.(157-159)tTg>tCg	p.L53S	ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S|ITPRIP_ENST00000278071.2_Missense_Mutation_p.L53S|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	53						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCAGGCGCAACTGCTCCAG	0.672																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(157-159)tTg>tCg		inositol 1,4,5-trisphosphate receptor interacting protein							72.0	71.0	71.0					10																	106075652		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075652A>G	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.158T>C	10.37:g.106075652A>G	ENSP00000337178:p.Leu53Ser					ITPRIP_ENST00000337478.1_Missense_Mutation_p.L53S|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S	p.L53S	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	610	-			53					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.158T>C	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928157	0.52759	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.68	5.68	0.88126	.	0.321554	0.30051	N	0.010532	T	0.17619	0.0423	L	0.27053	0.805	0.26231	N	0.97902	D	0.63880	0.993	P	0.56216	0.794	T	0.03555	-1.1025	10	0.72032	D	0.01	-14.6649	15.9181	0.79539	1.0:0.0:0.0:0.0	.	53	Q8IWB1	IPRI_HUMAN	S	53	ENSP00000337178:L53S;ENSP00000278071:L53S;ENSP00000350915:L53S;ENSP00000414141:L53S	ENSP00000278071:L53S	L	-	2	0	ITPRIP	106065642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.626000	0.67777	2.161000	0.67846	0.460000	0.39030	TTG		0.672	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		125	554	0	0	0	1	0	125	554				
SH3BP4	23677	broad.mit.edu	37	2	235961352	235961352	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235961352C>T	ENST00000409212.1	+	5	3132	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	SH3BP4_ENST00000392011.2_Silent_p.Y875Y|SH3BP4_ENST00000344528.4_Silent_p.Y875Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	875					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGCCTACGAGTCTCCCC	0.652																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2623-2625)taC>taT		SH3-domain binding protein 4							36.0	31.0	33.0					2																	235961352		2203	4299	6502	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235961352C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2625C>T	2.37:g.235961352C>T						SH3BP4_ENST00000392011.2_Silent_p.Y875Y|SH3BP4_ENST00000344528.4_Silent_p.Y875Y	p.Y875Y			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	5	3132	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	875					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.2625C>T	CCDS2513.1																																																																																				0.652	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			9	56	0	0	0	1	0	9	56				
SCAF1	58506	broad.mit.edu	37	19	50161056	50161056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50161056G>A	ENST00000360565.3	+	10	3781	c.3657G>A	c.(3655-3657)gaG>gaA	p.E1219E	IRF3_ENST00000599680.1_5'Flank	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1219	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCGGTGGAGGAGGTGAAGC	0.597																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3655-3657)gaG>gaA		SR-related CTD-associated factor 1							80.0	56.0	64.0					19																	50161056		2203	4300	6503	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50161056G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3657G>A	19.37:g.50161056G>A							p.E1219E	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	10	3781	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1219			Necessary for interaction with the CTD domain of POLR2A.		Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.3657G>A	CCDS33074.1																																																																																				0.597	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		10	65	0	0	0	1	0	10	65				
CNTNAP2	26047	broad.mit.edu	37	7	146536846	146536846	+	Nonsense_Mutation	SNP	G	G	A	rs267601384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146536846G>A	ENST00000361727.3	+	3	768	c.252G>A	c.(250-252)tgG>tgA	p.W84*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	84	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTATCAATGGCTTCAGGTTG	0.463										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(250-252)tgG>tgA		contactin associated protein-like 2							90.0	78.0	82.0					7																	146536846		2203	4300	6503	SO:0001587	stop_gained	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536846G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.252G>A	7.37:g.146536846G>A	ENSP00000354778:p.Trp84*	HNSCC(39;0.1)					p.W84*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	768	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	84			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.252G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	43	10.023625	0.99319	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000354778:W84X	W	+	3	0	CNTNAP2	146167779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	TGG		0.463	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			45	223	0	0	0	1	0	45	223				
RBP2	5948	broad.mit.edu	37	3	139195235	139195235	+	Missense_Mutation	SNP	C	C	T	rs147339826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139195235C>T	ENST00000232217.2	-	1	123	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	23					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.A23S(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTACCCAGGGCCTTCATGTAG	0.547																																						ENST00000232217.2																			1	Substitution - Missense(1)	p.A23S(1)	lung(1)	breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(67-69)Gcc>Acc		retinol binding protein 2, cellular	Vitamin A(DB00162)						230.0	186.0	201.0					3																	139195235		2203	4300	6503	SO:0001583	missense	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139195235C>T	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.67G>A	3.37:g.139195235C>T	ENSP00000232217:p.Ala23Thr					RP11-319G6.1_ENST00000515247.1_RNA	p.A23T	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN			1	123	-			23					A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	c.67G>A	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212263	0.79240	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.08984	3.03;3.03	5.34	5.34	0.76211	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.100250	0.64402	D	0.000002	T	0.23249	0.0562	M	0.65498	2.005	0.80722	D	1	D	0.64830	0.994	P	0.56916	0.809	T	0.00121	-1.2029	10	0.72032	D	0.01	.	16.5562	0.84485	0.0:1.0:0.0:0.0	.	23	P50120	RET2_HUMAN	T	23	ENSP00000232217:A23T;ENSP00000424333:A23T	ENSP00000232217:A23T	A	-	1	0	RBP2	140677925	1.000000	0.71417	0.999000	0.59377	0.429000	0.31625	5.020000	0.64066	2.659000	0.90383	0.563000	0.77884	GCC		0.547	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		66	253	0	0	0	1	0	66	253				
RRAGD	58528	broad.mit.edu	37	6	90097100	90097100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90097100C>A	ENST00000369415.4	-	2	634	c.358G>T	c.(358-360)Gga>Tga	p.G120*	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCAATCTGTCCTGGGAAGTCC	0.433																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(358-360)Gga>Tga		Ras-related GTP binding D							134.0	140.0	138.0					6																	90097100		2203	4300	6503	SO:0001587	stop_gained	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097100C>A	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.358G>T	6.37:g.90097100C>A	ENSP00000358423:p.Gly120*					RRAGD_ENST00000359203.2_Intron|RRAGD_ENST00000492783.1_5'UTR	p.G120*	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	634	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	120						Nonsense_Mutation	SNP	ENST00000369415.4	37	c.358G>T	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	C	39	7.577906	0.98368	.	.	ENSG00000025039	ENST00000369415	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4848	19.3349	0.94312	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000358423:G120X	G	-	1	0	RRAGD	90153819	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.487000	0.81328	2.583000	0.87209	0.655000	0.94253	GGA		0.433	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		153	696	1	0	1.01079e-59	1	1.26995e-59	153	696				
CYB5R3	1727	broad.mit.edu	37	22	43032837	43032837	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43032837G>T	ENST00000352397.5	-	2	289	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	CYB5R3_ENST00000361740.4_Missense_Mutation_p.L46I|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000407332.1_5'UTR|CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000407623.3_5'UTR	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	13					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	ACTGGGAAGAGCACCATATGG	0.607																																						ENST00000361740.4																			0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(136-138)Ctc>Atc		cytochrome b5 reductase 3	NADH(DB00157)						75.0	64.0	68.0					22																	43032837		2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43032837G>T	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.37C>A	22.37:g.43032837G>T	ENSP00000338461:p.Leu13Ile					CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000407623.3_5'UTR|CYB5R3_ENST00000407332.1_5'UTR|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000352397.5_Missense_Mutation_p.L13I	p.L46I	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN			2	135	-			13			FAD-binding FR-type.		B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.136C>A	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198982	0.38806	.	.	ENSG00000100243	ENST00000361740;ENST00000352397	D;D	0.87571	-2.27;-2.2	4.96	2.68	0.31781	.	0.873704	0.10018	N	0.726296	T	0.78381	0.4274	L	0.29908	0.895	0.80722	D	1	B;B	0.15473	0.013;0.002	B;B	0.10450	0.005;0.004	T	0.67616	-0.5625	10	0.21540	T	0.41	-29.9184	8.1457	0.31110	0.0:0.2946:0.5437:0.1617	.	46;13	B7Z7L3;P00387	.;NB5R3_HUMAN	I	46;13	ENSP00000354468:L46I;ENSP00000338461:L13I	ENSP00000338461:L13I	L	-	1	0	CYB5R3	41362781	0.874000	0.30092	0.999000	0.59377	0.861000	0.49209	0.867000	0.27968	1.206000	0.43276	0.467000	0.42956	CTC		0.607	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			21	142	1	0	5.45024e-15	1	5.94044e-15	21	142				
TFCP2	7024	broad.mit.edu	37	12	51502943	51502943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51502943C>A	ENST00000257915.5	-	6	1136	c.678G>T	c.(676-678)gaG>gaT	p.E226D	TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	226	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGTGTAAGTGCTCAGTATATT	0.433																																						ENST00000257915.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(676-678)gaG>gaT		transcription factor CP2							197.0	176.0	183.0					12																	51502943		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51502943C>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.678G>T	12.37:g.51502943C>A	ENSP00000257915:p.Glu226Asp					TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D	p.E226D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN			6	1136	-			226			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.678G>T	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047049	0.55110	.	.	ENSG00000135457	ENST00000257915;ENST00000549867;ENST00000548108	T;T;T	0.18174	2.23;2.23;2.23	5.45	2.6	0.31112	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.47016	1.485	0.80722	D	1	B;D;B	0.71674	0.022;0.998;0.016	B;D;B	0.78314	0.03;0.991;0.059	T	0.01839	-1.1263	10	0.23891	T	0.37	-22.8115	9.453	0.38739	0.0:0.6972:0.0:0.3028	.	226;226;226	F8VX55;Q12800;Q12800-4	.;TFCP2_HUMAN;.	D	226;226;128	ENSP00000257915:E226D;ENSP00000449742:E226D;ENSP00000449280:E128D	ENSP00000257915:E226D	E	-	3	2	TFCP2	49789210	0.530000	0.26330	1.000000	0.80357	0.980000	0.70556	-0.191000	0.09601	0.803000	0.34113	0.655000	0.94253	GAG		0.433	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		84	420	1	0	8.67779e-30	1	1.01564e-29	84	420				
EGFLAM	133584	broad.mit.edu	37	5	38427240	38427240	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38427240A>T	ENST00000354891.3	+	14	2286	c.1940A>T	c.(1939-1941)gAt>gTt	p.D647V	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D647V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	647	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACTCAGGAGATGGTGTCCTC	0.542																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1939-1941)gAt>gTt		EGF-like, fibronectin type III and laminin G domains							153.0	148.0	150.0					5																	38427240		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427240A>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1940A>T	5.37:g.38427240A>T	ENSP00000346964:p.Asp647Val					EGFLAM_ENST00000354891.3_Missense_Mutation_p.D647V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V	p.D647V	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			14	2286	+	all_lung(31;0.000385)		647			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1940A>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327875	0.41197	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.81330	-0.6;-0.6;-0.6;-1.48	5.76	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.157123	0.56097	D	0.000040	D	0.89329	0.6684	M	0.90369	3.11	0.80722	D	1	P;P;D	0.61697	0.95;0.833;0.99	P;P;D	0.64776	0.687;0.635;0.929	D	0.89382	0.3682	10	0.87932	D	0	-6.9413	8.3171	0.32106	0.786:0.1424:0.0716:0.0	.	413;647;647	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	647;647;413;13;413	ENSP00000346964:D647V;ENSP00000313084:D647V;ENSP00000337607:D413V;ENSP00000380385:D13V	ENSP00000313084:D647V	D	+	2	0	EGFLAM	38462997	1.000000	0.71417	0.008000	0.14137	0.045000	0.14185	5.738000	0.68613	1.021000	0.39600	0.533000	0.62120	GAT		0.542	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		27	721	0	0	0	1	0	27	721				
TELO2	9894	broad.mit.edu	37	16	1551487	1551487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1551487G>A	ENST00000262319.6	+	10	1627	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	450					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGGTGACGGCGCCTCGGAGGC	0.687																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1348-1350)Gcc>Acc		telomere maintenance 2							29.0	28.0	28.0					16																	1551487		2195	4295	6490	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1551487G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1348G>A	16.37:g.1551487G>A	ENSP00000262319:p.Ala450Thr						p.A450T	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			10	1627	+		Hepatocellular(780;0.219)	450					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.1348G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	g	8.776	0.927147	0.18056	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.83992	-1.79	5.27	-5.6	0.02497	.	1.112770	0.06593	N	0.752326	T	0.55909	0.1950	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47394	-0.9121	10	0.13108	T	0.6	-6.8133	0.4389	0.00483	0.2154:0.1788:0.2547:0.351	.	450	Q9Y4R8	TELO2_HUMAN	T	64;450	ENSP00000262319:A450T	ENSP00000262319:A450T	A	+	1	0	TELO2	1491488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.310000	0.08135	-1.029000	0.03317	-0.142000	0.14014	GCC		0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		38	114	0	0	0	1	0	38	114				
RIF1	55183	broad.mit.edu	37	2	152298469	152298469	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152298469A>G	ENST00000243326.5	+	15	2181	c.1698A>G	c.(1696-1698)tcA>tcG	p.S566S	RIF1_ENST00000428287.2_Silent_p.S566S|RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATTAGGTTCACCAGCATATC	0.299																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(1696-1698)tcA>tcG		RAP1 interacting factor homolog (yeast)							60.0	62.0	61.0					2																	152298469		2202	4286	6488	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152298469A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1698A>G	2.37:g.152298469A>G						RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S|RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Silent_p.S566S	p.S566S			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	15	2181	+			566					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.1698A>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	9.222	1.033723	0.19590	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.4	1.14	0.20703	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	-12.2918	6.4219	0.21748	0.5636:0.0:0.0744:0.362	.	.	.	.	A	558	.	.	T	+	1	0	RIF1	152006715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.265000	0.33027	0.361000	0.24292	0.528000	0.53228	ACC		0.299	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			6	236	0	0	0	1	0	6	236				
GAD2	2572	broad.mit.edu	37	10	26569946	26569946	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26569946C>A	ENST00000376261.3	+	12	1669	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	GAD2_ENST00000259271.3_Missense_Mutation_p.S389Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	389					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGGCCAACTCTGTGACGTGG	0.498																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1165-1167)tCt>tAt		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						181.0	169.0	173.0					10																	26569946		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26569946C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1166C>A	10.37:g.26569946C>A	ENSP00000365437:p.Ser389Tyr					GAD2_ENST00000259271.3_Missense_Mutation_p.S389Y	p.S389Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			12	1669	+			389					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1166C>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106318	0.77096	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.66638	-0.22;-0.22	4.77	3.85	0.44370	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.059798	0.64402	D	0.000001	D	0.88926	0.6570	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93226	0.6613	10	0.87932	D	0	-9.0047	15.1527	0.72713	0.0:0.8578:0.1422:0.0	.	389	Q05329	DCE2_HUMAN	Y	389	ENSP00000365437:S389Y;ENSP00000259271:S389Y	ENSP00000259271:S389Y	S	+	2	0	GAD2	26609952	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.734000	0.68580	1.097000	0.41459	0.650000	0.86243	TCT		0.498	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		24	641	1	0	6.12954e-19	1	6.81806e-19	24	641				
LGALS3BP	3959	broad.mit.edu	37	17	76969225	76969225	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76969225G>T	ENST00000262776.3	-	5	764	c.456C>A	c.(454-456)ggC>ggA	p.G152G	LGALS3BP_ENST00000585407.1_Silent_p.G152G|LGALS3BP_ENST00000591778.1_Intron	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	152					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACAGGTCGCAGCCCCGCTGGC	0.647																																					GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(454-456)ggC>ggA		lectin, galactoside-binding, soluble, 3 binding protein							27.0	24.0	25.0					17																	76969225		2202	4300	6502	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76969225G>T	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.456C>A	17.37:g.76969225G>T						LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Silent_p.G152G	p.G152G	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		5	764	-			152					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.456C>A	CCDS11759.1																																																																																				0.647	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		5	78	1	0	0.00116845	1	0.00118049	5	78				
ZNF521	25925	broad.mit.edu	37	18	22807139	22807139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22807139C>T	ENST00000361524.3	-	4	891	c.743G>A	c.(742-744)tGc>tAc	p.C248Y	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.C248Y|ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	248					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACACTGACTGCACTTCTGAGT	0.547			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(742-744)tGc>tAc		zinc finger protein 521							139.0	114.0	122.0					18																	22807139		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807139C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.743G>A	18.37:g.22807139C>T	ENSP00000354794:p.Cys248Tyr					ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.C248Y	p.C248Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	891	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		248					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.743G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546262	0.27652	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.16196	2.36;2.36	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	L	0.34521	1.04	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.02560	-1.1141	10	0.72032	D	0.01	-23.4588	20.3248	0.98698	0.0:1.0:0.0:0.0	.	248	Q96K83	ZN521_HUMAN	Y	248;282;248	ENSP00000354794:C248Y;ENSP00000382352:C248Y	ENSP00000354794:C248Y	C	-	2	0	ZNF521	21061137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.818000	0.97014	0.655000	0.94253	TGC		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	407	0	0	0	1	0	14	407				
KCNT2	343450	broad.mit.edu	37	1	196227349	196227349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196227349G>T	ENST00000294725.9	-	26	4101	c.3186C>A	c.(3184-3186)caC>caA	p.H1062Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q|KCNT2_ENST00000367433.5_Missense_Mutation_p.H1038Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.H995Q|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1062					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAGACCCAAGTGTTTCATTC	0.378																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(3112-3114)caC>caA		potassium channel, subfamily T, member 2							106.0	111.0	109.0					1																	196227349		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227349G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3186C>A	1.37:g.196227349G>T	ENSP00000294725:p.His1062Gln					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.H1062Q|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q	p.H1038Q			Q6UVM3	KCNT2_HUMAN			25	3215	-			1062					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.3114C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295257	0.40594	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18502	2.21;2.24;2.51	5.96	4.07	0.47477	.	0.089437	0.48767	D	0.000168	T	0.40222	0.1108	M	0.79805	2.47	0.80722	D	1	D;D;D;P	0.67145	0.996;0.973;0.973;0.716	D;P;P;B	0.66497	0.944;0.726;0.726;0.221	T	0.34950	-0.9808	10	0.51188	T	0.08	-18.9987	12.1512	0.54051	0.1908:0.0:0.8092:0.0	.	1027;1038;995;1062	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	1038;996;1062	ENSP00000356403:H1038Q;ENSP00000356401:H996Q;ENSP00000294725:H1062Q	ENSP00000294725:H1062Q	H	-	3	2	KCNT2	194493972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.931000	0.28871	1.518000	0.48934	0.643000	0.83706	CAC		0.378	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		101	325	1	0	6.16109e-32	1	7.26658e-32	101	325				
TWISTNB	221830	broad.mit.edu	37	7	19748552	19748552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19748552C>A	ENST00000222567.5	-	1	158	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	30					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTCGGCAACTCTAGGCAAGGC	0.652											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(88-90)Gag>Tag		TWIST neighbor							39.0	34.0	36.0					7																	19748552		2203	4299	6502	SO:0001587	stop_gained	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19748552C>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.88G>T	7.37:g.19748552C>A	ENSP00000222567:p.Glu30*		OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735		p.E30*	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			1	158	-			30					A0PJ45|B7Z724	Nonsense_Mutation	SNP	ENST00000222567.5	37	c.88G>T	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695929	0.68386	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	2.07	0.26955	.	0.257680	0.31636	N	0.007320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.8129	9.31	0.37898	0.0:0.6893:0.2205:0.0901	.	.	.	.	X	30	.	ENSP00000222567:E30X	E	-	1	0	TWISTNB	19715077	0.720000	0.27996	0.579000	0.28588	0.173000	0.22820	2.198000	0.42705	1.046000	0.40249	0.655000	0.94253	GAG		0.652	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			15	232	1	0	6.31663e-08	1	6.57865e-08	15	232				
COL26A1	136227	broad.mit.edu	37	7	101200789	101200789	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101200789C>T	ENST00000397927.3	+	0	1517				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											AGAGCGTGGACCAGGCCAGCA	0.637																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1							30.0	34.0	32.0					7																	101200789		2000	4175	6175			136227							g.chr7:101200789C>T	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101200789C>T						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	1494	+								Q32M90	RNA	SNP	ENST00000397927.3	37																																																																																						0.637	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		6	186	0	0	0	1	0	6	186				
MSI2	124540	broad.mit.edu	37	17	55335665	55335665	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55335665A>G	ENST00000284073.2	+	4	429	c.220A>G	c.(220-222)Agt>Ggt	p.S74G	MSI2_ENST00000322684.3_Missense_Mutation_p.S70G|MSI2_ENST00000416426.2_Missense_Mutation_p.S52G	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	74	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGACCCAGCAAGTGTAGATAA	0.458			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(220-222)Agt>Ggt		musashi RNA-binding protein 2							180.0	165.0	170.0					17																	55335665		2203	4300	6503	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55335665A>G	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.220A>G	17.37:g.55335665A>G	ENSP00000284073:p.Ser74Gly					MSI2_ENST00000416426.2_Missense_Mutation_p.S52G|MSI2_ENST00000322684.3_Missense_Mutation_p.S70G	p.S74G	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	4	429	+	Breast(9;1.78e-08)		74			RRM 1.		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.220A>G	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331261	0.41297	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	D;D;D	0.85773	-2.03;-2.03;-2.03	4.78	4.78	0.61160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.90287	0.6962	M	0.67569	2.06	0.80722	D	1	D;B;B	0.53885	0.963;0.001;0.001	D;B;B	0.69824	0.966;0.002;0.009	D	0.89023	0.3436	10	0.32370	T	0.25	.	13.4938	0.61411	1.0:0.0:0.0:0.0	.	52;70;74	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	G	52;74;70	ENSP00000414671:S52G;ENSP00000284073:S74G;ENSP00000313616:S70G	ENSP00000284073:S74G	S	+	1	0	MSI2	52690664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.839000	0.75364	1.780000	0.52325	0.523000	0.50628	AGT		0.458	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			122	582	0	0	0	1	0	122	582				
CYP20A1	57404	broad.mit.edu	37	2	204156990	204156990	+	Silent	SNP	C	C	T	rs149090400		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204156990C>T	ENST00000356079.4	+	11	1212	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.L371L	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	363						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CACAGACCCTCGTCCTTTATG	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		16762	0.0		0.0	False		,,,				2504	0.001					ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(1087-1089)ctC>ctT		cytochrome P450, family 20, subfamily A, polypeptide 1		C		2,4404	4.2+/-10.8	0,2,2201	174.0	165.0	168.0		1089	-1.8	1.0	2	dbSNP_134	168	0,8600		0,0,4300	no	coding-synonymous	CYP20A1	NM_177538.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		363/463	204156990	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204156990C>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1089C>T	2.37:g.204156990C>T						CYP20A1_ENST00000429815.2_Silent_p.L371L|CYP20A1_ENST00000461371.1_3'UTR	p.L363L	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			11	1212	+			363					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Silent	SNP	ENST00000356079.4	37	c.1089C>T	CCDS2357.1																																																																																				0.343	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		89	592	0	0	0	1	0	89	592				
KLK3	354	broad.mit.edu	37	19	51361378	51361378	+	Silent	SNP	C	C	A	rs2739452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51361378C>A	ENST00000326003.2	+	3	341	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000360617.3_Silent_p.L100L|KLK3_ENST00000593997.1_Silent_p.L100L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L100L(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			2	Substitution - coding silent(2)	p.L100L(2)	urinary_tract(2)	breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(298-300)ctC>ctA		kallikrein-related peptidase 3							93.0	76.0	81.0					19																	51361378		2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361378C>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.300C>A	19.37:g.51361378C>A						KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000326003.2_Silent_p.L100L|KLK3_ENST00000593997.1_Silent_p.L100L	p.L100L			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	300	+		all_neural(266;0.057)	100			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.300C>A	CCDS12807.1																																																																																				0.582	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		45	205	1	0	4.01765e-15	1	4.38033e-15	45	205				
COL10A1	1300	broad.mit.edu	37	6	116441246	116441246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116441246G>T	ENST00000327673.4	-	2	2440	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D|AL121963.1_ENST00000430695.1_5'Flank|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	678	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCACATTGGAGCCACTAGGAA	0.458																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(2032-2034)gCt>gAt		collagen, type X, alpha 1							104.0	113.0	110.0					6																	116441246		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116441246G>T		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.2033C>A	6.37:g.116441246G>T	ENSP00000327368:p.Ala678Asp					NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D	p.A678D			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	2440	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	678			C1q.|Nonhelical region (NC1).		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.2033C>A	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520158	0.44866	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.86097	-2.07;-2.07	5.08	5.08	0.68730	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	P	0.59056	0.851	D	0.88058	0.2792	10	0.59425	D	0.04	.	14.4628	0.67462	0.0:0.147:0.853:0.0	.	678	Q03692	COAA1_HUMAN	D	678	ENSP00000243222:A678D;ENSP00000327368:A678D	ENSP00000243222:A678D	A	-	2	0	COL10A1	116547939	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.494000	0.60347	2.539000	0.85634	0.455000	0.32223	GCT		0.458	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			51	628	1	0	2.0833e-19	1	2.32388e-19	51	628				
RSRC1	51319	broad.mit.edu	37	3	157823784	157823784	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157823784C>A	ENST00000480820.1	+	0	141				SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000490689.2_5'Flank			Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GGTCAAAAGACTTGGAGACGA	0.607																																						ENST00000480820.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18								arginine/serine-rich coiled-coil 1							36.0	38.0	38.0					3																	157823784		1930	4123	6053			51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157823784C>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000480820.1:c.-18C>A	3.37:g.157823784C>A						SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000554685.1_5'UTR				Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		0	141	+								A8K2R9|Q96QK2|Q9NZE5	Translation_Start_Site	SNP	ENST00000480820.1	37		CCDS3181.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198165	0.79015	.	.	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	D;D;D	0.97976	-4.64;-4.64;-4.64	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000004	D	0.97757	0.9264	L	0.39245	1.2	0.80722	D	1	B;D;D	0.89917	0.447;1.0;1.0	B;D;D	0.83275	0.075;0.996;0.987	D	0.98883	1.0770	10	0.66056	D	0.02	.	16.0873	0.81065	0.0:1.0:0.0:0.0	.	10;10;10	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	N	10	ENSP00000398704:K10N;ENSP00000374240:K10N;ENSP00000419362:K10N	ENSP00000374240:K10N	K	-	3	2	SHOX2;AC112502.1	159306478	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.458000	0.21892	1.938000	0.56188	0.561000	0.74099	AAG		0.607	RSRC1-007	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352156.1	NM_016625		72	291	1	0	8.92729e-27	1	1.0308e-26	72	291				
NBEA	26960	broad.mit.edu	37	13	35615281	35615281	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35615281C>A	ENST00000400445.3	+	2	1040	c.506C>A	c.(505-507)gCt>gAt	p.A169D	NBEA_ENST00000540320.1_Missense_Mutation_p.A169D|NBEA_ENST00000310336.4_Missense_Mutation_p.A169D|NBEA_ENST00000379939.2_Missense_Mutation_p.A169D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	169					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAATGAGTGCTGTAGATGAC	0.348																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(505-507)gCt>gAt		neurobeachin							58.0	54.0	55.0					13																	35615281		1885	4121	6006	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35615281C>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.506C>A	13.37:g.35615281C>A	ENSP00000383295:p.Ala169Asp					NBEA_ENST00000310336.4_Missense_Mutation_p.A169D|NBEA_ENST00000400445.3_Missense_Mutation_p.A169D|NBEA_ENST00000379939.2_Missense_Mutation_p.A169D	p.A169D			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	2	1040	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	169					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.506C>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994515	0.54041	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.33	5.33	0.75918	.	0.134557	0.51477	D	0.000096	T	0.35307	0.0927	N	0.17474	0.49	0.80722	D	1	B	0.22276	0.067	B	0.17433	0.018	T	0.08391	-1.0724	10	0.30078	T	0.28	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	169	Q5T321	.	D	169	ENSP00000440951:A169D;ENSP00000383295:A169D;ENSP00000369271:A169D;ENSP00000308534:A169D	ENSP00000308534:A169D	A	+	2	0	NBEA	34513281	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	3.337000	0.52120	2.496000	0.84212	0.585000	0.79938	GCT		0.348	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		11	145	1	0	3.07112e-06	1	3.16074e-06	11	145				
SPPL2C	162540	broad.mit.edu	37	17	43923646	43923646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43923646C>T	ENST00000329196.5	+	1	1391	c.1374C>T	c.(1372-1374)taC>taT	p.Y458Y	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	458						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										TGGTTGCTTACTGTTGCCGCT	0.592																																						ENST00000329196.5																			0											c.(1372-1374)taC>taT		signal peptide peptidase like 2C							152.0	117.0	129.0					17																	43923646		2203	4300	6503	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923646C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1374C>T	17.37:g.43923646C>T						MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.Y458Y	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	1391	+			458					Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.1374C>T	CCDS32673.1																																																																																				0.592	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		88	427	0	0	0	1	0	88	427				
ZNF407	55628	broad.mit.edu	37	18	72343146	72343146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72343146G>A	ENST00000299687.5	+	1	171	c.171G>A	c.(169-171)tcG>tcA	p.S57S	ZNF407_ENST00000309902.6_Silent_p.S57S|ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S57S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGAATCATCGAACTCTGATA	0.413																																						ENST00000299687.5																			1	Substitution - coding silent(1)	p.S57S(1)	large_intestine(1)	central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(169-171)tcG>tcA		zinc finger protein 407							91.0	89.0	90.0					18																	72343146		1841	4084	5925	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343146G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.171G>A	18.37:g.72343146G>A						ZNF407_ENST00000577538.1_Silent_p.S57S|ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000309902.6_Silent_p.S57S	p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	171	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	57					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.171G>A	CCDS45885.1																																																																																				0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		74	305	0	0	0	1	0	74	305				
HK3	3101	broad.mit.edu	37	5	176308126	176308126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176308126G>A	ENST00000292432.5	-	19	2811	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	907	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCAGGGCCGCACCTTTGCC	0.662																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2719-2721)gCg>gTg		hexokinase 3 (white cell)							51.0	50.0	50.0					5																	176308126		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308126G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2720C>T	5.37:g.176308126G>A	ENSP00000292432:p.Ala907Val						p.A907V	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		19	2811	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	907			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2720C>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560395	0.65538	.	.	ENSG00000160883	ENST00000292432	D	0.99405	-5.84	5.22	5.22	0.72569	Hexokinase, C-terminal (1);	0.000000	0.49305	D	0.000149	D	0.99722	0.9892	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97363	0.9971	10	0.87932	D	0	-12.1194	17.5321	0.87817	0.0:0.0:1.0:0.0	.	907	P52790	HXK3_HUMAN	V	907	ENSP00000292432:A907V	ENSP00000292432:A907V	A	-	2	0	HK3	176240732	1.000000	0.71417	0.878000	0.34440	0.130000	0.20726	7.415000	0.80131	2.714000	0.92807	0.561000	0.74099	GCG		0.662	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			44	220	0	0	0	1	0	44	220				
ARHGAP21	57584	broad.mit.edu	37	10	24909750	24909750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909750G>A	ENST00000396432.2	-	9	1560	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ARHGAP21_ENST00000320481.6_Silent_p.I145I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	357					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTTGAGATTCCATCAG	0.428																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(1072-1074)atC>atT		Rho GTPase activating protein 21							58.0	60.0	60.0					10																	24909750		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909750G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1074C>T	10.37:g.24909750G>A						ARHGAP21_ENST00000320481.6_Silent_p.I145I	p.I358I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1560	-			357					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.1074C>T	CCDS7144.2																																																																																				0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		58	253	0	0	0	1	0	58	253				
CEACAM5	1048	broad.mit.edu	37	19	42219576	42219576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42219576G>A	ENST00000221992.6	+	4	825	c.711G>A	c.(709-711)ccG>ccA	p.P237P	CEACAM5_ENST00000398599.4_Silent_p.P237P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P237P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	237	Ig-like 2.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGATGGCCCGGATGCCCCCA	0.507																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(709-711)ccG>ccA		carcinoembryonic antigen-related cell adhesion molecule 5							68.0	70.0	69.0					19																	42219576		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42219576G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.711G>A	19.37:g.42219576G>A						CEACAM5_ENST00000405816.1_Silent_p.P237P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.P237P	p.P237P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	4	825	+			237			Ig-like 2.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.711G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	0.155	-1.087253	0.01873	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.18	-0.947	0.10382	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	2.7144	0.05183	0.2758:0.0:0.5037:0.2205	.	.	.	.	R	234	.	.	G	+	1	0	CEACAM5	46911416	0.000000	0.05858	0.695000	0.30226	0.048000	0.14542	-2.052000	0.01401	0.046000	0.15833	-0.680000	0.03767	GGA		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		69	296	0	0	0	1	0	69	296				
MYO10	4651	broad.mit.edu	37	5	16766233	16766233	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16766233A>G	ENST00000513610.1	-	11	1589	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	379	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCCTGAGGAACATTGATCTC	0.488																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(1135-1137)Ttc>Ctc		myosin X							131.0	129.0	130.0					5																	16766233		1960	4168	6128	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16766233A>G	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1135T>C	5.37:g.16766233A>G	ENSP00000421280:p.Phe379Leu						p.F379L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			11	1589	-			379			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.1135T>C	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873472	0.51695	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.86694	-2.16;-2.16	5.05	1.2	0.21068	Myosin head, motor domain (2);	.	.	.	.	T	0.72724	0.3496	N	0.12471	0.22	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.002;0.007	T	0.59204	-0.7498	9	0.48119	T	0.1	.	6.273	0.20965	0.2545:0.1003:0.0:0.6452	.	20;379	Q69YP8;Q9HD67	.;MYO10_HUMAN	L	379;390	ENSP00000421280:F379L;ENSP00000421309:F390L	ENSP00000421280:F379L	F	-	1	0	MYO10	16819233	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.471000	0.45127	-0.042000	0.13535	0.482000	0.46254	TTC		0.488	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		30	137	0	0	0	1	0	30	137				
MFAP4	4239	broad.mit.edu	37	17	19288434	19288434	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19288434T>C	ENST00000299610.4	-	5	582	c.498A>G	c.(496-498)gcA>gcG	p.A166A	MFAP4_ENST00000497081.2_Silent_p.A191A|MFAP4_ENST00000395592.2_Silent_p.A190A|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTCAAAGCCTGCCACAAAGA	0.602																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(568-570)gcA>gcG		microfibrillar-associated protein 4							127.0	104.0	112.0					17																	19288434		2203	4300	6503	SO:0001819	synonymous_variant	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19288434T>C	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.498A>G	17.37:g.19288434T>C						MFAP4_ENST00000497081.2_Silent_p.A191A|MFAP4_ENST00000299610.4_Silent_p.A166A	p.A190A	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			5	641	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		166			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Silent	SNP	ENST00000299610.4	37	c.570A>G	CCDS11208.1																																																																																				0.602	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		102	470	0	0	0	1	0	102	470				
CD46	4179	broad.mit.edu	37	1	207943701	207943701	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207943701T>C	ENST00000358170.2	+	9	1138	c.982T>C	c.(982-984)Tat>Cat	p.Y328H	CD46_ENST00000361067.1_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367042.1_Missense_Mutation_p.Y313H|CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000480003.1_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000322918.5_Missense_Mutation_p.Y298H	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	328					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						AGTCTCAAATTATCCAGGTTG	0.313																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(982-984)Tat>Cat		CD46 molecule, complement regulatory protein							78.0	84.0	82.0					1																	207943701		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207943701T>C	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.982T>C	1.37:g.207943701T>C	ENSP00000350893:p.Tyr328His					CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000361067.1_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.Y298H|CD46_ENST00000367042.1_Missense_Mutation_p.Y313H|CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|CD46_ENST00000360212.2_Intron|CD46_ENST00000480003.1_Intron	p.Y328H	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			9	1138	+			328					A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.982T>C	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	7.715	0.696002	0.15106	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839	T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	3.44	-5.85	0.02311	.	1.535010	0.04251	N	0.338652	T	0.52741	0.1753	L	0.32530	0.975	0.09310	N	1	P;B;B;D;D;D;B;D	0.89917	0.936;0.42;0.184;1.0;0.997;0.965;0.184;0.995	P;B;B;D;D;P;B;D	0.74674	0.512;0.098;0.057;0.984;0.944;0.563;0.057;0.969	T	0.52888	-0.8515	10	0.17369	T	0.5	.	5.7131	0.17945	0.0:0.4127:0.3143:0.273	.	298;313;298;328;313;298;313;328	P15529-4;P15529-3;P15529-12;P15529-2;P15529-11;P15529-9;P15529-8;P15529	.;.;.;.;.;.;.;MCP_HUMAN	H	328;313;298;313;298;298;328;265;313	ENSP00000350893:Y328H;ENSP00000346912:Y313H;ENSP00000314664:Y298H;ENSP00000356009:Y313H;ENSP00000356008:Y298H;ENSP00000350346:Y298H;ENSP00000313875:Y328H;ENSP00000356014:Y265H;ENSP00000413543:Y313H	ENSP00000313875:Y328H	Y	+	1	0	CD46	206010324	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-1.745000	0.01831	-1.274000	0.02421	0.402000	0.26972	TAT		0.313	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		21	517	0	0	0	1	0	21	517				
DPP6	1804	broad.mit.edu	37	7	154596655	154596655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154596655C>T	ENST00000377770.3	+	15	1669	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	DPP6_ENST00000332007.3_Missense_Mutation_p.R448W|DPP6_ENST00000404039.1_Missense_Mutation_p.R446W|DPP6_ENST00000427557.1_Missense_Mutation_p.R403W			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	510					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGACCTGCCTCGGAGACGACA	0.557																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1336-1338)Cgg>Tgg		dipeptidyl-peptidase 6							77.0	84.0	82.0					7																	154596655		2058	4198	6256	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154596655C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1528C>T	7.37:g.154596655C>T	ENSP00000367001:p.Arg510Trp					DPP6_ENST00000377770.3_Missense_Mutation_p.R510W|DPP6_ENST00000427557.1_Missense_Mutation_p.R403W|DPP6_ENST00000332007.3_Missense_Mutation_p.R448W	p.R446W	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		15	1923	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	510						Missense_Mutation	SNP	ENST00000377770.3	37	c.1336C>T		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101985	0.56183	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.04	1.69	0.24217	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.243875	0.48286	D	0.000193	T	0.50188	0.1601	M	0.73962	2.25	0.37883	D	0.930458	D;D;D;D	0.76494	0.994;0.999;0.999;0.999	P;P;P;D	0.63192	0.832;0.901;0.861;0.912	T	0.58148	-0.7687	10	0.66056	D	0.02	-12.2056	13.0161	0.58757	0.331:0.669:0.0:0.0	.	403;448;510;446	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	W	446;510;448;403	ENSP00000385578:R446W;ENSP00000367001:R510W;ENSP00000328226:R448W;ENSP00000397303:R403W	ENSP00000328226:R448W	R	+	1	2	DPP6	154227588	0.899000	0.30636	0.001000	0.08648	0.759000	0.43091	1.793000	0.38764	0.126000	0.18424	0.650000	0.86243	CGG		0.557	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		8	33	0	0	0	1	0	8	33				
TTN	7273	broad.mit.edu	37	2	179638990	179638990	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179638990C>A	ENST00000591111.1	-	30	7225	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2334V			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 12.				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)			GCTGTATTCTCCCTGGTCCTC	0.438																																						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.(7000-7002)gGa>gTa		titin							152.0	139.0	143.0					2																	179638990		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638990C>A	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.7001G>T	2.37:g.179638990C>A	ENSP00000465570:p.Gly2334Val					TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2334V	p.G2334V	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)		30	7225	-			2051			Ig-like 12.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.7001G>T		.	.	.	.	.	.	.	.	.	.	C	14.49	2.551960	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91375	0.7279	M	0.93106	3.38	0.80722	D	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;1.0;1.0;1.0	D	0.92903	0.6341	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334V;ENSP00000434586:G2288V;ENSP00000340554:G2288V;ENSP00000352154:G2288V;ENSP00000354117:G2334V	ENSP00000340554:G2288V	G	-	2	0	TTN	179347235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		134	428	1	0	3.75716e-53	1	4.6801e-53	134	428				
RYR3	6263	broad.mit.edu	37	15	34030740	34030740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34030740G>A	ENST00000389232.4	+	50	7675	c.7605G>A	c.(7603-7605)ctG>ctA	p.L2535L	RYR3_ENST00000415757.3_Silent_p.L2535L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2535	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGAAGAGCTGCACCTAACGG	0.498											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(7603-7605)ctG>ctA		ryanodine receptor 3							107.0	116.0	113.0					15																	34030740		1928	4122	6050	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34030740G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7605G>A	15.37:g.34030740G>A			OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	844	RYR3_ENST00000415757.3_Silent_p.L2535L	p.L2535L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	50	7675	+		all_lung(180;7.18e-09)	2535			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.7605G>A	CCDS45210.1																																																																																				0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			49	233	0	0	0	1	0	49	233				
FKTN	2218	broad.mit.edu	37	9	108366669	108366669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108366669C>T	ENST00000223528.2	+	5	667	c.543C>T	c.(541-543)ggC>ggT	p.G181G	FKTN_ENST00000448551.2_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G|FKTN_ENST00000357998.5_Silent_p.G181G|FKTN_ENST00000540160.1_Silent_p.G181G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	181					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AGAGGAGTGGCAACTACCTCT	0.473																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(541-543)ggC>ggT		fukutin							124.0	104.0	111.0					9																	108366669		2203	4300	6503	SO:0001819	synonymous_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108366669C>T		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.543C>T	9.37:g.108366669C>T						FKTN_ENST00000357998.5_Silent_p.G181G|FKTN_ENST00000540160.1_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G|FKTN_ENST00000448551.2_Silent_p.G181G	p.G181G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			5	667	+			181					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	c.543C>T	CCDS6766.1																																																																																				0.473	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		64	361	0	0	0	1	0	64	361				
RIMKLA	284716	broad.mit.edu	37	1	42875661	42875661	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42875661C>A	ENST00000431473.3	+	4	617	c.488C>A	c.(487-489)gCt>gAt	p.A163D		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	163	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AAAGGAAAAGCTGTTTTTCTG	0.468																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(487-489)gCt>gAt		ribosomal modification protein rimK-like family member A							131.0	140.0	137.0					1																	42875661		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42875661C>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.488C>A	1.37:g.42875661C>A	ENSP00000414330:p.Ala163Asp						p.A163D	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			4	617	+			163			ATP-grasp.		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.488C>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133153	0.77662	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.42	4.5	0.54988	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.052389	0.85682	D	0.000000	T	0.75525	0.3861	M	0.63843	1.955	0.80722	D	1	B	0.30542	0.284	P	0.47786	0.557	T	0.77043	-0.2734	9	0.72032	D	0.01	-35.7252	13.9526	0.64129	0.0:0.8467:0.1533:0.0	.	163	Q8IXN7	RIMKA_HUMAN	D	39;163	.	ENSP00000387064:A39D	A	+	2	0	RIMKLA	42648248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.478000	0.66806	1.256000	0.44068	0.650000	0.86243	GCT		0.468	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		150	624	1	0	2.88375e-75	1	3.67652e-75	150	624				
ANKRD26	22852	broad.mit.edu	37	10	27313399	27313399	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313399A>G	ENST00000376087.4	-	28	4227	c.4062T>C	c.(4060-4062)gtT>gtC	p.V1354V	ANKRD26_ENST00000376070.3_Silent_p.V911V|ANKRD26_ENST00000436985.2_Silent_p.V1370V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1353					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTCTAATTCAACATTTTTCT	0.249																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(4060-4062)gtT>gtC		ankyrin repeat domain 26							69.0	69.0	69.0					10																	27313399		1777	4046	5823	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27313399A>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4062T>C	10.37:g.27313399A>G						ANKRD26_ENST00000376070.3_Silent_p.V911V|ANKRD26_ENST00000436985.2_Silent_p.V1370V	p.V1354V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			28	4227	-			1353					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.4062T>C	CCDS41499.1																																																																																				0.249	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			31	162	0	0	0	1	0	31	162				
RAPGEF3	10411	broad.mit.edu	37	12	48141337	48141337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48141337G>A	ENST00000449771.2	-	15	1634	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*	RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000405493.2_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	516	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTGTGGCATCGCCGCCTCTCT	0.537																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(1420-1422)Cga>Tga		Rap guanine nucleotide exchange factor (GEF) 3							65.0	61.0	63.0					12																	48141337		2203	4300	6503	SO:0001587	stop_gained	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48141337G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1546C>T	12.37:g.48141337G>A	ENSP00000395708:p.Arg516*					RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*	p.R474*	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	15	1629	-	Lung SC(27;0.192)		474					A8K2G5|E7EQC8|O95634|Q8WVN0	Nonsense_Mutation	SNP	ENST00000449771.2	37	c.1420C>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	37	6.577103	0.97676	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	.	.	.	4.37	3.47	0.39725	.	0.277746	0.27068	N	0.021096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8775	0.41213	0.0:0.0:0.7967:0.2033	.	.	.	.	X	474;516;163;474;474;474;516;528;474;516	.	ENSP00000171000:R474X	R	-	1	2	RAPGEF3	46427604	0.998000	0.40836	1.000000	0.80357	0.467000	0.32768	1.438000	0.35002	1.420000	0.47138	0.655000	0.94253	CGA		0.537	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		58	269	0	0	0	1	0	58	269				
RB1	5925	broad.mit.edu	37	13	49054158	49054158	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49054158A>G	ENST00000267163.4	+	27	2876	c.2738A>G	c.(2737-2739)aAg>aGg	p.K913R	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	913	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CGAATGCAAAAGCAGAAAATG	0.418		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2737-2739)aAg>aGg		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						158.0	135.0	143.0					13																	49054158		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49054158A>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2738A>G	13.37:g.49054158A>G	ENSP00000267163:p.Lys913Arg	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_ENST00000484879.1_3'UTR	p.K913R	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	27	2876	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	913			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2738A>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300929	0.81136	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.81247	-1.47	6.06	6.06	0.98353	Rb C-terminal (1);	0.054730	0.64402	D	0.000001	D	0.82486	0.5047	L	0.40543	1.245	0.41921	D	0.990516	P	0.50528	0.936	P	0.53266	0.722	D	0.84188	0.0443	10	0.62326	D	0.03	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	913	P06400	RB_HUMAN	R	892;913	ENSP00000267163:K913R	ENSP00000267163:K913R	K	+	2	0	RB1	47952159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	2.315000	0.78130	0.533000	0.62120	AAG		0.418	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			32	147	0	0	0	1	0	32	147				
OR2B2	81697	broad.mit.edu	37	6	27879173	27879173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879173G>T	ENST00000303324.2	-	1	1001	c.925C>A	c.(925-927)Ctt>Att	p.L309I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATTAAGAAGACTCTTTGCA	0.363																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(925-927)Ctt>Att		olfactory receptor, family 2, subfamily B, member 2							82.0	83.0	83.0					6																	27879173		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879173G>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.925C>A	6.37:g.27879173G>T	ENSP00000304419:p.Leu309Ile						p.L309I	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	1001	-			309					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.925C>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231361	0.09969	.	.	ENSG00000168131	ENST00000303324	T	0.38240	1.15	3.18	1.2	0.21068	.	0.886778	0.09250	N	0.827978	T	0.05960	0.0155	N	0.12569	0.235	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40887	-0.9539	10	0.22706	T	0.39	.	4.9859	0.14189	0.325:0.0:0.675:0.0	.	309	Q9GZK3	OR2B2_HUMAN	I	309	ENSP00000304419:L309I	ENSP00000304419:L309I	L	-	1	0	OR2B2	27987152	0.017000	0.18338	0.012000	0.15200	0.134000	0.20937	-0.115000	0.10741	0.285000	0.22329	0.313000	0.20887	CTT		0.363	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			61	281	1	0	1.27862e-28	1	1.48942e-28	61	281				
TYR	7299	broad.mit.edu	37	11	89017970	89017970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89017970G>A	ENST00000263321.5	+	4	1716	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	405			R -> L (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CGAAGGCACCGTCCTCTTCAA	0.383																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM041480	TYR	M		c.(1213-1215)cGt>cAt		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						65.0	66.0	65.0					11																	89017970		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89017970G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1214G>A	11.37:g.89017970G>A	ENSP00000263321:p.Arg405His						p.R405H	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			4	1716	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	405		R -> L (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1214G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069557	0.20147	.	.	ENSG00000077498	ENST00000263321	D	0.98862	-5.19	4.68	-0.449	0.12226	Uncharacterised domain, di-copper centre (2);	0.493212	0.19908	N	0.103354	D	0.95182	0.8438	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.84679	0.0716	9	.	.	.	.	15.3426	0.74309	0.1635:0.0:0.8365:0.0	.	405	P14679	TYRO_HUMAN	H	405	ENSP00000263321:R405H	.	R	+	2	0	TYR	88657618	0.015000	0.18098	0.017000	0.16124	0.879000	0.50718	1.025000	0.30090	-0.284000	0.09102	-1.164000	0.01763	CGT		0.383	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		61	260	0	0	0	1	0	61	260				
NMRK1	54981	broad.mit.edu	37	9	77684710	77684710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77684710T>C	ENST00000361092.4	-	6	573	c.337A>G	c.(337-339)Aat>Gat	p.N113D	NMRK1_ENST00000376811.1_Missense_Mutation_p.N117D|NMRK1_ENST00000376808.4_Intron|NMRK1_ENST00000482537.1_5'Flank	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	113					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TAGCTTCTATTCCATATAGTG	0.373																																						ENST00000376811.1																			0											c.(349-351)Aat>Gat		nicotinamide riboside kinase 1							94.0	90.0	92.0					9																	77684710		2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77684710T>C	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.337A>G	9.37:g.77684710T>C	ENSP00000354387:p.Asn113Asp					NMRK1_ENST00000376808.4_Intron|NMRK1_ENST00000361092.4_Missense_Mutation_p.N113D	p.N117D			Q9NWW6	NRK1_HUMAN			7	811	-			113					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.349A>G	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819526	0.16607	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092	T;T	0.27104	1.69;1.69	5.86	5.86	0.93980	.	0.055044	0.64402	D	0.000001	T	0.12475	0.0303	N	0.13140	0.3	0.80722	D	1	P;B	0.35011	0.48;0.002	B;B	0.33454	0.164;0.003	T	0.09100	-1.0690	10	0.02654	T	1	-10.0443	11.0482	0.47872	0.0:0.0727:0.0:0.9273	.	117;113	Q5W125;Q9NWW6	.;NRK1_HUMAN	D	117;117;113	ENSP00000366007:N117D;ENSP00000354387:N113D	ENSP00000354387:N113D	N	-	1	0	C9orf95	76874530	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	1.940000	0.40223	2.241000	0.73720	0.482000	0.46254	AAT		0.373	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		6	309	0	0	0	1	0	6	309				
ARMC2	84071	broad.mit.edu	37	6	109283323	109283323	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109283323G>A	ENST00000392644.4	+	15	2313	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.Q550Q	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	715										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCATTGTGCAGAACAATGGTG	0.398																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(2143-2145)caG>caA		armadillo repeat containing 2							73.0	63.0	66.0					6																	109283323		2203	4300	6503	SO:0001819	synonymous_variant	84071						binding	g.chr6:109283323G>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.2145G>A	6.37:g.109283323G>A						ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.Q550Q	p.Q715Q	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	15	2313	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	715					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	c.2145G>A	CCDS5069.2																																																																																				0.398	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		16	65	0	0	0	1	0	16	65				
CHST9	83539	broad.mit.edu	37	18	24524299	24524299	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24524299G>A	ENST00000284224.8	-	5	511	c.234C>T	c.(232-234)acC>acT	p.T78T	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_Intron|CHST9_ENST00000581714.1_Silent_p.T78T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	78					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ATACCTGGTTGGTGATATGTT	0.313																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(232-234)acC>acT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							105.0	97.0	99.0					18																	24524299		1810	4080	5890	SO:0001819	synonymous_variant	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24524299G>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.234C>T	18.37:g.24524299G>A						CHST9_ENST00000580774.1_Intron|CHST9_ENST00000581714.1_Silent_p.T78T|AQP4-AS1_ENST00000578701.1_RNA	p.T78T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			5	511	-	all_lung(6;0.0145)|Ovarian(20;0.124)		78					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.234C>T	CCDS42422.1																																																																																				0.313	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		53	213	0	0	0	1	0	53	213				
PSMC5	5705	broad.mit.edu	37	17	61908896	61908896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61908896C>T	ENST00000310144.6	+	10	1308	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	PSMC5_ENST00000580864.1_Missense_Mutation_p.R326W|PSMC5_ENST00000375812.4_Missense_Mutation_p.R326W|PSMC5_ENST00000581882.1_Missense_Mutation_p.R326W|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	334	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GATTCATTCTCGGAAGATGAA	0.547																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1000-1002)Cgg>Tgg		proteasome (prosome, macropain) 26S subunit, ATPase, 5							52.0	56.0	54.0					17																	61908896		2202	4298	6500	SO:0001583	missense	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908896C>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.1000C>T	17.37:g.61908896C>T	ENSP00000310572:p.Arg334Trp					PSMC5_ENST00000580864.1_Missense_Mutation_p.R326W|PSMC5_ENST00000375812.4_Missense_Mutation_p.R326W|PSMC5_ENST00000581882.1_Missense_Mutation_p.R326W	p.R334W	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			10	1308	+			334					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.1000C>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891103	0.72524	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.79653	-1.29;-1.29	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65773	0.923;0.938	D	0.92590	0.6082	10	0.87932	D	0	.	11.7681	0.51943	0.1752:0.8248:0.0:0.0	.	326;334	A8K3Z3;P62195	.;PRS8_HUMAN	W	334;326	ENSP00000310572:R334W;ENSP00000364970:R326W	ENSP00000310572:R334W	R	+	1	2	PSMC5	59262628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.084000	0.50143	2.861000	0.98227	0.655000	0.94253	CGG		0.547	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		9	482	0	0	0	1	0	9	482				
NXPE4	54827	broad.mit.edu	37	11	114465413	114465413	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114465413A>C	ENST00000375478.3	-	2	249	c.69T>G	c.(67-69)atT>atG	p.I23M	NXPE4_ENST00000424261.2_De_novo_Start_OutOfFrame	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	23						extracellular vesicular exosome (GO:0070062)											AAACTGTAAAAATGATCCAGG	0.328																																						ENST00000424261.2																			0													neurexophilin and PC-esterase domain family, member 4							126.0	120.0	122.0					11																	114465413		1817	4069	5886	SO:0001583	missense	54827							g.chr11:114465413A>C	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.69T>G	11.37:g.114465413A>C	ENSP00000364627:p.Ile23Met					NXPE4_ENST00000375478.3_Missense_Mutation_p.I23M		NM_017678.2	NP_060148.2					0	237	-								Q6QDB4|Q9NXP5	Translation_Start_Site	SNP	ENST00000375478.3	37		CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776184	0.31411	.	.	ENSG00000137634	ENST00000375478	T	0.14144	2.53	4.64	-2.81	0.05805	.	1.951620	0.02130	N	0.056316	T	0.10337	0.0253	L	0.34521	1.04	0.09310	N	1	P	0.43633	0.813	B	0.41988	0.372	T	0.16424	-1.0403	10	0.34782	T	0.22	.	1.5972	0.02666	0.2925:0.1455:0.0907:0.4713	.	23	Q6UWF7	FA55D_HUMAN	M	23	ENSP00000364627:I23M	ENSP00000364627:I23M	I	-	3	3	FAM55D	113970623	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.272000	0.18644	-0.240000	0.09696	-1.216000	0.01612	ATT		0.328	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		78	405	0	0	0	1	0	78	405				
PCSK2	5126	broad.mit.edu	37	20	17462277	17462277	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17462277C>A	ENST00000262545.2	+	12	1794	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	PCSK2_ENST00000536609.1_Silent_p.A458A|PCSK2_ENST00000377899.1_Silent_p.A474A|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	493					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAACCGACGCCTGTGAGGGGA	0.517																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1477-1479)gcC>gcA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						122.0	114.0	117.0					20																	17462277		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462277C>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1479C>A	20.37:g.17462277C>A						PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.A474A|PCSK2_ENST00000536609.1_Silent_p.A458A	p.A493A	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	1794	+			493					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1479C>A	CCDS13125.1																																																																																				0.517	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		91	401	1	0	8.45761e-33	1	1.00019e-32	91	401				
ATP2B1	490	broad.mit.edu	37	12	89985005	89985005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89985005G>A	ENST00000428670.3	-	21	3875	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|ATP2B1_ENST00000359142.3_3'UTR|AC068641.1_ENST00000585304.1_RNA|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1178					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.S1140L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTTGTGAATCGAACTTCTTGA	0.378																																						ENST00000428670.3																			1	Substitution - Missense(1)	p.S1140L(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(3418-3420)tCg>tTg		ATPase, Ca++ transporting, plasma membrane 1							137.0	127.0	130.0					12																	89985005		2203	4299	6502	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89985005G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3419C>T	12.37:g.89985005G>A	ENSP00000392043:p.Ser1140Leu					ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|ATP2B1_ENST00000359142.3_3'UTR|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L	p.S1140L			P20020	AT2B1_HUMAN			21	3875	-			1178					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.3419C>T	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.344223|3.344223	0.61073|0.61073	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164	.|T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35	5.39|5.39	4.49|4.49	0.54785|0.54785	.|.	.|0.252429	.|0.41605	.|D	.|0.000851	.|D	.|0.90525	.|0.7031	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.082	.|D;B	.|0.77557	.|0.99;0.031	.|D	.|0.91365	.|0.5115	.|10	.|0.48119	.|T	.|0.1	-15.288|-15.288	16.1779|16.1779	0.81874|0.81874	0.0:0.1335:0.8665:0.0|0.0:0.1335:0.8665:0.0	.|.	.|1140;1104	.|P20020-3;P20020-6	.|.;.	X|L	121|1140;1104;1140;883	.|ENSP00000261173:S1140L;ENSP00000343599:S1104L;ENSP00000392043:S1140L;ENSP00000376869:S883L	.|ENSP00000261173:S1140L	R|S	-|-	1|2	2|0	ATP2B1|ATP2B1	88509136|88509136	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.985000|0.985000	0.73830|0.73830	9.869000|9.869000	0.99810|0.99810	1.245000|1.245000	0.43885|0.43885	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.378	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		86	358	0	0	0	1	0	86	358				
CTTNBP2	83992	broad.mit.edu	37	7	117361139	117361139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117361139G>A	ENST00000160373.3	-	20	4584	c.4493C>T	c.(4492-4494)gCt>gTt	p.A1498V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1498					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGACAGAGAAGCATTCCTGTT	0.303																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4492-4494)gCt>gTt		cortactin binding protein 2							165.0	163.0	164.0					7																	117361139		2202	4299	6501	SO:0001583	missense	83992							g.chr7:117361139G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4493C>T	7.37:g.117361139G>A	ENSP00000160373:p.Ala1498Val						p.A1498V	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	20	4584	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1498					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4493C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963163	0.34659	.	.	ENSG00000077063	ENST00000160373	T	0.66460	-0.21	5.21	4.33	0.51752	.	0.621908	0.16066	N	0.231236	T	0.62660	0.2446	M	0.64404	1.975	0.22500	N	0.999042	B	0.23937	0.094	B	0.16289	0.015	T	0.54990	-0.8210	10	0.41790	T	0.15	-0.4606	12.1834	0.54223	0.0795:0.0:0.9205:0.0	.	1498	Q8WZ74	CTTB2_HUMAN	V	1498	ENSP00000160373:A1498V	ENSP00000160373:A1498V	A	-	2	0	CTTNBP2	117148375	0.898000	0.30612	0.632000	0.29296	0.706000	0.40770	2.807000	0.47955	1.306000	0.44926	0.644000	0.83932	GCT		0.303	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		60	361	0	0	0	1	0	60	361				
ZHX3	23051	broad.mit.edu	37	20	39831542	39831542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39831542G>A	ENST00000309060.3	-	4	2430	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	672					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T672S(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCTTCTTGGTCTCCTCAGC	0.507																																						ENST00000309060.3																			1	Substitution - Missense(1)	p.T672S(1)	kidney(1)	endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2014-2016)aCc>aTc		zinc fingers and homeoboxes 3							142.0	143.0	143.0					20																	39831542		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831542G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2015C>T	20.37:g.39831542G>A	ENSP00000312222:p.Thr672Ile					ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I	p.T672I			Q9H4I2	ZHX3_HUMAN			4	2430	-		Myeloproliferative disorder(115;0.00425)	672					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2015C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	6.876	0.531051	0.13127	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.12361	2.9;2.9;2.69	6.06	2.72	0.32119	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.475365	0.24182	N	0.040793	T	0.08802	0.0218	L	0.36672	1.1	0.19945	N	0.999941	B;B;P	0.36753	0.242;0.242;0.568	B;B;B	0.35655	0.065;0.071;0.207	T	0.19289	-1.0310	10	0.36615	T	0.2	-7.5284	2.984	0.05962	0.0838:0.2223:0.3897:0.3042	.	672;672;672	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	I	672;672;672;672;450	ENSP00000362360:T672I;ENSP00000442290:T672I;ENSP00000443783:T672I	ENSP00000312222:T672I	T	-	2	0	ZHX3	39264956	1.000000	0.71417	0.394000	0.26270	0.714000	0.41099	2.894000	0.48640	0.832000	0.34804	0.650000	0.86243	ACC		0.507	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		94	948	0	0	0	1	0	94	948				
SYCP2	10388	broad.mit.edu	37	20	58467404	58467404	+	Missense_Mutation	SNP	T	T	G	rs199782376		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58467404T>G	ENST00000357552.3	-	24	2230	c.2005A>C	c.(2005-2007)Aaa>Caa	p.K669Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	669					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATTTCACTTTTCCTGTTCCT	0.279													T|||	1	0.000199681	0.0	0.0	5008	,	,		15775	0.001		0.0	False		,,,				2504	0.0					ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2005-2007)Aaa>Caa		synaptonemal complex protein 2							83.0	84.0	84.0					20																	58467404		2201	4298	6499	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467404T>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2005A>C	20.37:g.58467404T>G	ENSP00000350162:p.Lys669Gln					SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q	p.K669Q			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2230	-	all_lung(29;0.00344)		669					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.2005A>C	CCDS13482.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	3.940	-0.014318	0.07681	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18960	2.44;2.44;2.18	5.23	2.8	0.32819	.	0.728814	0.13007	N	0.421209	T	0.20901	0.0503	L	0.51422	1.61	0.09310	N	1	P	0.48016	0.904	P	0.44897	0.463	T	0.13764	-1.0497	10	0.66056	D	0.02	-5.6591	4.878	0.13665	0.1643:0.0938:0.0:0.7419	.	669	Q9BX26	SYCP2_HUMAN	Q	669	ENSP00000360040:K669Q;ENSP00000350162:K669Q;ENSP00000402456:K669Q	ENSP00000350162:K669Q	K	-	1	0	SYCP2	57900799	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.617000	0.24359	0.930000	0.37217	0.482000	0.46254	AAA		0.279	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		13	364	0	0	0	1	0	13	364				
PCDHB7	56129	broad.mit.edu	37	5	140554707	140554707	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554707T>A	ENST00000231137.3	+	1	2465	c.2291T>A	c.(2290-2292)tTt>tAt	p.F764Y	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	764					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTTCAAGTTTCTGAAACCA	0.507																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2290-2292)tTt>tAt									83.0	123.0	109.0					5																	140554707		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554707T>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2291T>A	5.37:g.140554707T>A	ENSP00000231137:p.Phe764Tyr						p.F764Y	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2465	+			764					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2291T>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314917	0.40996	.	.	ENSG00000113212	ENST00000231137	T	0.19105	2.17	4.33	3.14	0.36123	.	.	.	.	.	T	0.44498	0.1296	M	0.87900	2.915	0.35724	D	0.817379	D	0.63046	0.992	P	0.60415	0.874	T	0.61491	-0.7052	9	0.72032	D	0.01	.	10.0259	0.42070	0.0:0.0873:0.0:0.9127	.	764	Q9Y5E2	PCDB7_HUMAN	Y	764	ENSP00000231137:F764Y	ENSP00000231137:F764Y	F	+	2	0	PCDHB7	140534891	1.000000	0.71417	0.995000	0.50966	0.170000	0.22686	5.748000	0.68697	1.711000	0.51337	0.374000	0.22700	TTT		0.507	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		91	906	0	0	0	1	0	91	906				
VPS13B	157680	broad.mit.edu	37	8	100789061	100789061	+	Missense_Mutation	SNP	C	C	A	rs200065297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100789061C>A	ENST00000358544.2	+	41	7492	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2461					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAACAGCCCTGGCTGCCTG	0.453																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7381-7383)Ctg>Atg		vacuolar protein sorting 13 homolog B (yeast)							212.0	171.0	185.0					8																	100789061		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100789061C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7381C>A	8.37:g.100789061C>A	ENSP00000351346:p.Leu2461Met					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M	p.L2461M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		41	7492	+	Breast(36;3.73e-07)		2461					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7381C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653464	0.67472	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.85556	-1.99;-2.0	5.52	4.64	0.57946	.	0.000000	0.64402	D	0.000002	D	0.89691	0.6788	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.89445	0.3726	10	0.72032	D	0.01	.	8.0438	0.30536	0.0:0.778:0.0:0.222	.	2436;2461	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	M	2436;2461	ENSP00000349685:L2436M;ENSP00000351346:L2461M	ENSP00000349685:L2436M	L	+	1	2	VPS13B	100858237	0.679000	0.27596	1.000000	0.80357	0.998000	0.95712	0.751000	0.26348	2.583000	0.87209	0.650000	0.86243	CTG		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		65	612	1	0	1.53134e-21	1	1.72607e-21	65	612				
TMED4	222068	broad.mit.edu	37	7	44621144	44621144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44621144C>T	ENST00000457408.2	-	3	343	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TMED4_ENST00000481238.1_Silent_p.E97E|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000289577.5_Silent_p.E97E	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	97	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGAAGCGGCCCTCCGAGCCGT	0.567																																						ENST00000457408.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(289-291)gaG>gaA		transmembrane emp24 protein transport domain containing 4							67.0	69.0	69.0					7																	44621144		2203	4300	6503	SO:0001819	synonymous_variant	222068				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity	g.chr7:44621144C>T	BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.291G>A	7.37:g.44621144C>T						TMED4_ENST00000289577.5_Silent_p.E97E|TMED4_ENST00000481238.1_Silent_p.E97E|TMED4_ENST00000444131.2_5'UTR	p.E97E	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN			3	343	-			97			GOLD.		A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Silent	SNP	ENST00000457408.2	37	c.291G>A	CCDS5493.1																																																																																				0.567	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	NM_182547		84	381	0	0	0	1	0	84	381				
SUGP2	10147	broad.mit.edu	37	19	19136619	19136619	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136619C>T	ENST00000601879.1	-	3	835	c.538G>A	c.(538-540)Gag>Aag	p.E180K	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Missense_Mutation_p.E180K|SUGP2_ENST00000337018.6_Missense_Mutation_p.E180K|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.E194K			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	180					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CACTCTTTCTCAATCAGCCTG	0.527																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(538-540)Gag>Aag		SURP and G patch domain containing 2							103.0	92.0	96.0					19																	19136619		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136619C>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.538G>A	19.37:g.19136619C>T	ENSP00000472286:p.Glu180Lys					SUGP2_ENST00000337018.6_Missense_Mutation_p.E180K|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000600377.1_Missense_Mutation_p.E194K|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Missense_Mutation_p.E180K	p.E180K			Q8IX01	SUGP2_HUMAN			3	835	-			180					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.538G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963237	0.53507	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.14391	2.52;2.51;2.52	4.93	4.93	0.64822	.	0.578205	0.16159	N	0.226887	T	0.10252	0.0251	N	0.19112	0.55	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.34824	0.19;0.19	T	0.15578	-1.0432	10	0.87932	D	0	-19.4332	15.2858	0.73828	0.0:1.0:0.0:0.0	.	180;180	A8K5G0;Q8IX01	.;SUGP2_HUMAN	K	180	ENSP00000337926:E180K;ENSP00000332373:E180K;ENSP00000389380:E180K	ENSP00000332373:E180K	E	-	1	0	SUGP2	18997619	0.989000	0.36119	0.986000	0.45419	0.890000	0.51754	2.927000	0.48900	2.295000	0.77249	0.313000	0.20887	GAG		0.527	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		64	269	0	0	0	1	0	64	269				
ZNF385B	151126	broad.mit.edu	37	2	180307983	180307983	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180307983C>T	ENST00000410066.1	-	10	2013	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	ZNF385B_ENST00000409343.1_Silent_p.P394P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000336917.5_Silent_p.P368P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	470	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.P470P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GACGTTAGTACGGAGCAAAGA	0.552																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			1	Substitution - coding silent(1)	p.P470P(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(1408-1410)ccG>ccA		zinc finger protein 385B							33.0	38.0	36.0					2																	180307983		2203	4299	6502	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180307983C>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1410G>A	2.37:g.180307983C>T						ZNF385B_ENST00000336917.5_Silent_p.P368P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000409343.1_Silent_p.P394P	p.P470P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		10	2013	-			470					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.1410G>A	CCDS33339.1																																																																																				0.552	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		68	192	0	0	0	1	0	68	192				
FAM129B	64855	broad.mit.edu	37	9	130269380	130269380	+	Missense_Mutation	SNP	C	C	T	rs374739971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269380C>T	ENST00000373312.3	-	14	2198	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Missense_Mutation_p.R649Q	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	662					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTCTCAGGCCGCAGACCTTG	0.731																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1984-1986)cGg>cAg		family with sequence similarity 129, member B		C	GLN/ARG,GLN/ARG	0,4336		0,0,2168	9.0	9.0	9.0		1946,1985	-4.3	0.8	9		9	1,8481		0,1,4240	no	missense,missense	FAM129B	NM_001035534.1,NM_022833.2	43,43	0,1,6408	TT,TC,CC		0.0118,0.0,0.0078	benign,benign	649/734,662/747	130269380	1,12817	2168	4241	6409	SO:0001583	missense	64855						protein binding	g.chr9:130269380C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1985G>A	9.37:g.130269380C>T	ENSP00000362409:p.Arg662Gln					FAM129B_ENST00000373314.3_Missense_Mutation_p.R649Q	p.R662Q	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2198	-			662					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1985G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.602993	0.13939	0.0	1.18E-4	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.21543	2.0;2.0	5.28	-4.33	0.03677	.	0.904000	0.09700	N	0.767083	T	0.08492	0.0211	N	0.12182	0.205	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42464	-0.9450	10	0.11794	T	0.64	-16.1494	7.4804	0.27402	0.0:0.2635:0.127:0.6095	.	649;662	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	Q	649;312;662	ENSP00000362411:R649Q;ENSP00000362409:R662Q	ENSP00000362409:R662Q	R	-	2	0	FAM129B	129309201	0.000000	0.05858	0.840000	0.33206	0.442000	0.32017	-3.297000	0.00522	-0.511000	0.06514	0.561000	0.74099	CGG		0.731	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		9	60	0	0	0	1	0	9	60				
ZC3H4	23211	broad.mit.edu	37	19	47584827	47584827	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47584827G>A	ENST00000253048.5	-	11	1420	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	ZC3H4_ENST00000594019.1_Intron|RN7SL533P_ENST00000584468.1_RNA	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	461							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACATGCAGTCGTCACCATTGA	0.542																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1381-1383)gaC>gaT		zinc finger CCCH-type containing 4							140.0	139.0	139.0					19																	47584827		2054	4194	6248	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47584827G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1383C>T	19.37:g.47584827G>A						ZC3H4_ENST00000594019.1_Intron	p.D461D	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	11	1420	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	461					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.1383C>T	CCDS42582.1																																																																																				0.542	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			64	326	0	0	0	1	0	64	326				
ZNF423	23090	broad.mit.edu	37	16	49669765	49669765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49669765C>T	ENST00000561648.1	-	4	3351	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T	ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1100					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTCCGTTGGCGCTGCGGGCC	0.697																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3298-3300)Gcc>Acc		zinc finger protein 423							16.0	18.0	17.0					16																	49669765		2196	4293	6489	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669765C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3298G>A	16.37:g.49669765C>T	ENSP00000455426:p.Ala1100Thr					ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T	p.A1100T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3351	-		all_cancers(37;0.0155)	1100					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3298G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408956	0.11812	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.07800	3.16;3.18	5.16	1.7	0.24286	.	0.098188	0.64402	D	0.000002	T	0.02083	0.0065	N	0.01576	-0.805	0.31995	N	0.604178	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	9	.	.	.	-16.2003	2.3233	0.04216	0.3978:0.3609:0.0:0.2413	.	1100	Q2M1K9	ZN423_HUMAN	T	1100;983	ENSP00000262383:A1100T;ENSP00000442321:A983T	.	A	-	1	0	ZNF423	48227266	0.997000	0.39634	0.832000	0.32986	0.886000	0.51366	1.701000	0.37825	0.557000	0.29117	0.561000	0.74099	GCC		0.697	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		41	194	0	0	0	1	0	41	194				
C10orf54	64115	broad.mit.edu	37	10	73521358	73521358	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521358T>C	ENST00000394957.3	-	2	566	c.508A>G	c.(508-510)Aca>Gca	p.T170A	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	170					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCTCACCTGTCTGCACCTGC	0.622																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(508-510)Aca>Gca		chromosome 10 open reading frame 54							34.0	27.0	29.0					10																	73521358		2202	4300	6502	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521358T>C	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.508A>G	10.37:g.73521358T>C	ENSP00000378409:p.Thr170Ala					C10orf54_ENST00000481568.1_5'UTR|CDH23_ENST00000224721.6_Intron	p.T170A	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	566	-			170					A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.508A>G	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268732	0.23136	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.42131	0.98	5.75	1.99	0.26369	Immunoglobulin-like fold (1);	0.612772	0.18840	N	0.129705	T	0.28928	0.0718	L	0.40543	1.245	0.25380	N	0.988629	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.18999	-1.0319	10	0.24483	T	0.36	.	6.8447	0.23982	0.0:0.1273:0.234:0.6387	.	166;170	Q2TA85;Q9H7M9	.;GI24_HUMAN	A	170;166	ENSP00000378409:T170A	ENSP00000263569:T166A	T	-	1	0	C10orf54	73191364	0.976000	0.34144	0.549000	0.28204	0.978000	0.69477	1.393000	0.34497	0.085000	0.17107	-0.250000	0.11733	ACA		0.622	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		15	64	0	0	0	1	0	15	64				
KIAA1328	57536	broad.mit.edu	37	18	34802090	34802090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802090G>A	ENST00000280020.5	+	10	1656	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.R541Q	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1621-1623)cGa>cAa		KIAA1328							45.0	42.0	43.0					18																	34802090		1864	4105	5969	SO:0001583	missense	57536							g.chr18:34802090G>A	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1634G>A	18.37:g.34802090G>A	ENSP00000280020:p.Arg545Gln					KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545Q|KIAA1328_ENST00000586135.1_3'UTR	p.R541Q			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	10	2408	+			545					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.1622G>A	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	4.084	0.013449	0.07959	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.47869	0.83	5.93	-3.18	0.05186	.	0.790748	0.11311	N	0.577100	T	0.31009	0.0783	L	0.50333	1.59	0.09310	N	1	B;B	0.27971	0.002;0.196	B;B	0.15052	0.002;0.012	T	0.20505	-1.0273	10	0.18276	T	0.48	.	5.9963	0.19495	0.484:0.0:0.3084:0.2077	.	545;545	A8K8C3;Q86T90	.;K1328_HUMAN	Q	545	ENSP00000280020:R545Q	ENSP00000280020:R545Q	R	+	2	0	KIAA1328	33056088	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.898000	0.04105	-0.552000	0.06167	-0.914000	0.02751	CGA		0.478	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		14	87	0	0	0	1	0	14	87				
ACVR1B	91	broad.mit.edu	37	12	52369215	52369215	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52369215C>A	ENST00000257963.4	+	2	335	c.258C>A	c.(256-258)agC>agA	p.S86R	ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	86					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACTGCCTGAGCTCGGAGGACC	0.577																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(256-258)agC>agA		activin A receptor, type IB	Adenosine triphosphate(DB00171)						108.0	85.0	93.0					12																	52369215		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52369215C>A		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.258C>A	12.37:g.52369215C>A	ENSP00000257963:p.Ser86Arg					ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R	p.S86R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	2	335	+			86					B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.258C>A	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233134	0.58777	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	T;T;T;D;T;T	0.90732	0.39;0.39;0.39;-2.72;0.39;0.39	4.88	3.97	0.46021	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.68317	2.08	0.58432	D	0.999998	B;B;D;D	0.55800	0.033;0.022;0.973;0.957	B;B;P;P	0.61800	0.048;0.076;0.894;0.865	D	0.91643	0.5328	10	0.42905	T	0.14	.	10.0775	0.42368	0.0:0.7754:0.0:0.2246	.	86;86;86;86	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	R	86;86;86;34;86;34	ENSP00000257963:S86R;ENSP00000442656:S86R;ENSP00000390477:S86R;ENSP00000443218:S34R;ENSP00000397550:S86R;ENSP00000442885:S34R	ENSP00000257963:S86R	S	+	3	2	ACVR1B	50655482	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.817000	0.27281	1.341000	0.45600	0.650000	0.86243	AGC		0.577	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		48	218	1	0	8.86878e-18	1	9.80954e-18	48	218				
HIC1	3090	broad.mit.edu	37	17	1960076	1960076	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960076T>C	ENST00000322941.3	+	2	149	c.149T>C	c.(148-150)aTc>aCc	p.I50T	HIC1_ENST00000399849.3_Missense_Mutation_p.I31T	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	50	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		TGCGACGTGATCATCGTGGTG	0.637																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(91-93)aTc>aCc		hypermethylated in cancer 1							37.0	40.0	39.0					17																	1960076		2146	4271	6417	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960076T>C		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.149T>C	17.37:g.1960076T>C	ENSP00000314080:p.Ile50Thr					HIC1_ENST00000322941.3_Missense_Mutation_p.I50T	p.I31T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	252	+			50					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.92T>C	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019842	0.54576	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.62639	0.01;0.01	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.43942	0.1270	N	0.11154	0.105	0.48511	D	0.999666	B	0.33883	0.43	B	0.35859	0.212	T	0.45673	-0.9245	9	0.38643	T	0.18	.	12.8345	0.57765	0.0:0.0:0.0:1.0	.	50	Q14526	HIC1_HUMAN	T	31;50	ENSP00000382742:I31T;ENSP00000314080:I50T	ENSP00000314080:I50T	I	+	2	0	HIC1	1906826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.676000	0.61627	1.706000	0.51276	0.459000	0.35465	ATC		0.637	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		9	321	0	0	0	1	0	9	321				
PTCHD3	374308	broad.mit.edu	37	10	27692284	27692284	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27692284A>C	ENST00000438700.3	-	3	1331	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	405	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCAGTCAAACCTGTAAAT	0.438																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1213-1215)tTt>tGt		patched domain containing 3							95.0	89.0	91.0					10																	27692284		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27692284A>C	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1214T>G	10.37:g.27692284A>C	ENSP00000417658:p.Phe405Cys						p.F405C	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			3	1331	-			405			SSD.		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1214T>G	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	0.168	-1.074373	0.01903	.	.	ENSG00000182077	ENST00000438700	D	0.91996	-2.95	4.09	-2.89	0.05665	Sterol-sensing domain (1);	1.570750	0.03132	N	0.165365	T	0.78886	0.4354	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.69289	-0.5184	10	0.27785	T	0.31	1.3274	5.6094	0.17396	0.2793:0.5362:0.0762:0.1084	.	405	Q3KNS1	PTHD3_HUMAN	C	405	ENSP00000417658:F405C	ENSP00000417658:F405C	F	-	2	0	PTCHD3	27732290	0.198000	0.23374	0.003000	0.11579	0.003000	0.03518	0.623000	0.24447	-0.412000	0.07519	0.459000	0.35465	TTT		0.438	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		59	340	0	0	0	1	0	59	340				
CHD3	1107	broad.mit.edu	37	17	7803329	7803329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7803329G>A	ENST00000330494.7	+	16	2810	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q	CHD3_ENST00000380358.4_Missense_Mutation_p.R946Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	887	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGGCCCATCGACTCAAGAAC	0.468																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2836-2838)cGa>cAa		chromodomain helicase DNA binding protein 3							99.0	84.0	89.0					17																	7803329		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7803329G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2660G>A	17.37:g.7803329G>A	ENSP00000332628:p.Arg887Gln					CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q|CHD3_ENST00000330494.7_Missense_Mutation_p.R887Q	p.R946Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			16	2838	+		Prostate(122;0.202)	887					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2837G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092861	0.76756	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93307	-3.2;-3.2;-3.2	5.4	5.4	0.78164	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.40144	N	0.001170	D	0.94814	0.8325	L	0.42581	1.335	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60949	0.811;0.881;0.881	D	0.95076	0.8209	10	0.87932	D	0	-14.6293	19.3554	0.94410	0.0:0.0:1.0:0.0	.	887;887;946	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	946;887;887	ENSP00000369716:R946Q;ENSP00000350907:R887Q;ENSP00000332628:R887Q	ENSP00000332628:R887Q	R	+	2	0	CHD3	7744054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.813000	0.96785	0.561000	0.74099	CGA		0.468	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		24	138	0	0	0	1	0	24	138				
NRROS	375387	broad.mit.edu	37	3	196387788	196387788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196387788C>A	ENST00000328557.4	+	3	1477	c.1274C>A	c.(1273-1275)gCt>gAt	p.A425D		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	425					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTCGCCAATGCTAGGAACATC	0.627																																						ENST00000328557.4																			0											c.(1273-1275)gCt>gAt		negative regulator of reactive oxygen species							114.0	118.0	117.0					3																	196387788		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196387788C>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1274C>A	3.37:g.196387788C>A	ENSP00000328625:p.Ala425Asp						p.A425D	NM_198565.1	NP_940967.1					3	1477	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1274C>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832946	0.32421	.	.	ENSG00000174004	ENST00000328557	T	0.00976	5.48	6.03	6.03	0.97812	.	0.190802	0.47455	D	0.000229	T	0.02267	0.0070	L	0.33710	1.025	0.80722	D	1	D	0.60575	0.988	P	0.57057	0.812	T	0.64812	-0.6319	10	0.66056	D	0.02	.	13.7229	0.62740	0.0:0.9301:0.0:0.0699	.	425	Q86YC3	LRC33_HUMAN	D	425	ENSP00000328625:A425D	ENSP00000328625:A425D	A	+	2	0	LRRC33	197872185	0.943000	0.32029	0.528000	0.27938	0.083000	0.17756	4.655000	0.61476	2.854000	0.98071	0.655000	0.94253	GCT		0.627	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		214	782	1	0	7.75935e-95	1	9.96969e-95	214	782				
NPHS1	4868	broad.mit.edu	37	19	36339215	36339215	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339215C>T	ENST00000378910.5	-	10	1254	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	419	Ig-like C2-type 4.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACTGAAGGCCTCACATGTG	0.592																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1255-1257)Gcc>Acc		nephrosis 1, congenital, Finnish type (nephrin)							114.0	103.0	107.0					19																	36339215		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36339215C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1255G>A	19.37:g.36339215C>T	ENSP00000368190:p.Ala419Thr					NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	p.A419T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1254	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		419			Ig-like C2-type 4.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.1255G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067564	0.55539	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.91351	-2.83;-2.83	5.43	4.38	0.52667	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183078	0.46758	D	0.000271	D	0.95198	0.8443	M	0.82517	2.595	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.95525	0.8598	10	0.72032	D	0.01	-25.7883	13.8765	0.63655	0.0:0.8458:0.1542:0.0	.	419	O60500	NPHN_HUMAN	T	419	ENSP00000368190:A419T;ENSP00000343634:A419T	ENSP00000343634:A419T	A	-	1	0	NPHS1	41031055	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.341000	0.65964	1.259000	0.44117	-0.282000	0.10007	GCC		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			22	393	0	0	0	1	0	22	393				
P2RY2	5029	broad.mit.edu	37	11	72945948	72945948	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945948C>T	ENST00000311131.2	+	3	1211	c.744C>T	c.(742-744)gcC>gcT	p.A248A	P2RY2_ENST00000393596.2_Silent_p.A248A|P2RY2_ENST00000393597.2_Silent_p.A248A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCACCATCGCCGTGGTGCTGG	0.642																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(742-744)gcC>gcT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						107.0	97.0	100.0					11																	72945948		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945948C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.744C>T	11.37:g.72945948C>T						P2RY2_ENST00000393596.2_Silent_p.A248A|P2RY2_ENST00000393597.2_Silent_p.A248A	p.A248A	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1211	+			248					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.744C>T	CCDS8219.1																																																																																				0.642	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		99	400	0	0	0	1	0	99	400				
GRIK4	2900	broad.mit.edu	37	11	120769288	120769288	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120769288C>A	ENST00000527524.2	+	12	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_ENST00000438375.2_Silent_p.L404L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	404					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ACAGCCACCTCTATGCCTCCA	0.602																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1210-1212)ctC>ctA		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						214.0	141.0	166.0					11																	120769288		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120769288C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1212C>A	11.37:g.120769288C>A						GRIK4_ENST00000438375.2_Silent_p.L404L	p.L404L			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	12	1499	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	404					A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1212C>A	CCDS8433.1																																																																																				0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		41	174	1	0	4.86159e-25	1	5.57236e-25	41	174				
PTOV1	53635	broad.mit.edu	37	19	50358292	50358292	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50358292C>T	ENST00000601675.1	+	5	620	c.516C>T	c.(514-516)tgC>tgT	p.C172C	PTOV1_ENST00000600603.1_Silent_p.C140C|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.C140C|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000221557.9_Silent_p.C140C|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000391842.1_Silent_p.C172C|PTOV1_ENST00000599732.1_Silent_p.C172C|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACAGAGACTGCGACTCGCTCA	0.637																																						ENST00000391842.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(514-516)tgC>tgT		prostate tumor overexpressed 1							41.0	35.0	37.0					19																	50358292		2202	4300	6502	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50358292C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.516C>T	19.37:g.50358292C>T						PTOV1_ENST00000221557.9_Silent_p.C140C|PTOV1_ENST00000601675.1_Silent_p.C172C|PTOV1_ENST00000599732.1_Silent_p.C172C|PTOV1_ENST00000600603.1_Silent_p.C140C|PTOV1_ENST00000601638.1_Silent_p.C140C|PTOV1_ENST00000598325.1_3'UTR	p.C172C	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	5	686	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	172					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.516C>T	CCDS12782.1																																																																																				0.637	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		8	40	0	0	0	1	0	8	40				
MIS18A	54069	broad.mit.edu	37	21	33651204	33651204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33651204C>T	ENST00000290130.3	-	1	176	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	41					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CAGCTGGTGGCGGCTCGAGTC	0.647																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(121-123)cGc>cAc		MIS18 kinetochore protein A							24.0	24.0	24.0					21																	33651204		2202	4298	6500	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33651204C>T	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.122G>A	21.37:g.33651204C>T	ENSP00000290130:p.Arg41His					MIS18A-AS1_ENST00000453549.1_RNA	p.R41H	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			1	176	-			41					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.122G>A	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912422	0.92178	.	.	ENSG00000159055	ENST00000290130	.	.	.	4.81	3.92	0.45320	.	0.247232	0.32868	N	0.005558	T	0.41766	0.1173	L	0.57536	1.79	0.31136	N	0.707187	B	0.31100	0.308	B	0.26202	0.067	T	0.54289	-0.8316	9	0.72032	D	0.01	-17.5797	10.3483	0.43920	0.0:0.9076:0.0:0.0924	.	41	Q9NYP9	MS18A_HUMAN	H	41	.	ENSP00000290130:R41H	R	-	2	0	MIS18A	32573075	0.437000	0.25593	0.967000	0.41034	0.973000	0.67179	0.727000	0.25999	1.384000	0.46424	0.650000	0.86243	CGC		0.647	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		22	164	0	0	0	1	0	22	164				
EGFLAM	133584	broad.mit.edu	37	5	38407154	38407154	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38407154C>A	ENST00000354891.3	+	8	1399	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	EGFLAM_ENST00000322350.5_Silent_p.L351L|EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	351	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGAAACTCTCTGCTCTGCTG	0.557																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1051-1053)ctC>ctA		EGF-like, fibronectin type III and laminin G domains							111.0	105.0	107.0					5																	38407154		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407154C>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1053C>A	5.37:g.38407154C>A						EGFLAM_ENST00000354891.3_Silent_p.L351L|EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron	p.L351L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			8	1399	+	all_lung(31;0.000385)		351			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.1053C>A	CCDS56363.1																																																																																				0.557	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		14	341	1	0	2.61681e-11	1	2.78987e-11	14	341				
SEL1L2	80343	broad.mit.edu	37	20	13971165	13971165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13971165G>A	ENST00000284951.5	-	1	90	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Silent_p.L6L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	6						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTATTAACAGAGACAAGGGC	0.418																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(16-18)Ctg>Ttg		sel-1 suppressor of lin-12-like 2 (C. elegans)							102.0	95.0	97.0					20																	13971165		1859	4105	5964	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13971165G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.16C>T	20.37:g.13971165G>A						SEL1L2_ENST00000378072.5_Silent_p.L6L|SEL1L2_ENST00000486903.1_Intron	p.L6L			Q5TEA6	SE1L2_HUMAN			1	90	-			6					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.16C>T																																																																																					0.418	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		60	306	0	0	0	1	0	60	306				
RTN4	57142	broad.mit.edu	37	2	55253303	55253303	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55253303A>G	ENST00000337526.6	-	3	2175	c.1932T>C	c.(1930-1932)gtT>gtC	p.V644V	RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Silent_p.V438V|RTN4_ENST00000405240.1_Silent_p.V438V|RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	644					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTCATAATTAACTGAAGAAG	0.408																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1930-1932)gtT>gtC		reticulon 4							33.0	35.0	34.0					2																	55253303		2203	4300	6503	SO:0001819	synonymous_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253303A>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1932T>C	2.37:g.55253303A>G						RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000357376.3_Silent_p.V438V|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000405240.1_Silent_p.V438V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000357732.4_Intron	p.V644V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2175	-			644					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Silent	SNP	ENST00000337526.6	37	c.1932T>C	CCDS42684.1																																																																																				0.408	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			35	165	0	0	0	1	0	35	165				
UBAP2	55833	broad.mit.edu	37	9	34017072	34017072	+	Silent	SNP	C	C	T	rs147991027		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34017072C>T	ENST00000379238.1	-	2	192	c.75G>A	c.(73-75)acG>acA	p.T25T	UBAP2_ENST00000360802.1_Silent_p.T25T|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron|RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000539807.1_5'UTR					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCTGTGGTTGCGTTGATTGTG	0.343																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(73-75)acG>acA		ubiquitin associated protein 2		C		0,4406		0,0,2203	145.0	123.0	130.0		75	3.5	0.6	9	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UBAP2	NM_018449.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		25/1120	34017072	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:34017072C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.75G>A	9.37:g.34017072C>T						UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000360802.1_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron	p.T25T			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	2	192	-			25						Silent	SNP	ENST00000379238.1	37	c.75G>A	CCDS6547.1																																																																																				0.343	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		35	354	0	0	0	1	0	35	354				
GFER	2671	broad.mit.edu	37	16	2035969	2035969	+	Silent	SNP	C	C	T	rs142220504	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035969C>T	ENST00000248114.6	+	3	564	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GFER_ENST00000569451.1_3'UTR|AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Silent_p.F111F	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	186	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)	p.F186F(1)		endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	AGCCTGACTTCGACTGCTCAA	0.607													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21734	0.0		0.0	False		,,,				2504	0.0					ENST00000248114.6																			1	Substitution - coding silent(1)	p.F186F(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(3)	5						c.(556-558)ttC>ttT		growth factor, augmenter of liver regeneration							92.0	86.0	88.0					16																	2035969		2198	4300	6498	SO:0001819	synonymous_variant	2671				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	g.chr16:2035969C>T	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"""ERV1 homolog (S. cerevisiae)"""	600924	"""growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"""			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.558C>T	16.37:g.2035969C>T						AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Silent_p.F111F|GFER_ENST00000569451.1_3'UTR	p.F186F	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN			3	564	+			186			ERV/ALR sulfhydryl oxidase.		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Silent	SNP	ENST00000248114.6	37	c.558C>T	CCDS32368.1																																																																																				0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262		114	521	0	0	0	1	0	114	521				
TMEM57	55219	broad.mit.edu	37	1	25784913	25784913	+	Silent	SNP	G	G	A	rs369257820		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25784913G>A	ENST00000374343.4	+	6	863	c.684G>A	c.(682-684)tcG>tcA	p.S228S	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	228					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATTCTTCGATCCTTATAC	0.403																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(682-684)tcG>tcA		transmembrane protein 57		G		0,4406		0,0,2203	115.0	127.0	123.0		684	-2.9	0.9	1		123	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TMEM57	NM_018202.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		228/665	25784913	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25784913G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.684G>A	1.37:g.25784913G>A						TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron	p.S228S	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	6	863	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	228					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	37	c.684G>A	CCDS30638.1																																																																																				0.403	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		157	588	0	0	0	1	0	157	588				
SYK	6850	broad.mit.edu	37	9	93650131	93650131	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93650131T>C	ENST00000375754.4	+	12	1830	c.1682T>C	c.(1681-1683)tTg>tCg	p.L561S	SYK_ENST00000375751.4_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S|SYK_ENST00000375747.1_Missense_Mutation_p.L538S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	561	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTGGAGTGTTGATGTGGGAA	0.502			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1681-1683)tTg>tCg		spleen tyrosine kinase							156.0	150.0	152.0					9																	93650131		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650131T>C	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1682T>C	9.37:g.93650131T>C	ENSP00000364907:p.Leu561Ser					SYK_ENST00000375751.4_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S|SYK_ENST00000375747.1_Missense_Mutation_p.L538S	p.L561S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			12	1830	+			561			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1682T>C	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774724	0.49786	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.78	3.65	0.41850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.76062	0.3935	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76913	-0.2783	10	0.72032	D	0.01	.	10.1934	0.43041	0.0:0.0784:0.0:0.9216	.	538;561	P43405-2;P43405	.;KSYK_HUMAN	S	561;538;538;561	ENSP00000364907:L561S;ENSP00000364904:L538S;ENSP00000364899:L538S;ENSP00000364898:L561S	ENSP00000364898:L561S	L	+	2	0	SYK	92689952	0.709000	0.27886	0.282000	0.24776	0.653000	0.38743	3.642000	0.54367	0.857000	0.35407	0.379000	0.24179	TTG		0.502	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			150	683	0	0	0	1	0	150	683				
STK11	6794	broad.mit.edu	37	19	1206967	1206967	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1206967T>C	ENST00000326873.7	+	1	1228	c.55T>C	c.(55-57)Tcg>Ccg	p.S19P	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	19					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCTGATGTCGGTGGGTAT	0.662		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	p.0?(20)|p.?(3)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(55-57)Tcg>Ccg		serine/threonine kinase 11							20.0	24.0	23.0					19																	1206967		2067	4198	6265	SO:0001583	missense	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1206967T>C	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.55T>C	19.37:g.1206967T>C	ENSP00000324856:p.Ser19Pro	TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_Intron	p.S19P	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1228	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	19					B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.55T>C	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165459	0.57476	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.87571	-2.27	3.9	2.84	0.33178	.	0.000000	0.51477	D	0.000089	T	0.80763	0.4685	L	0.44542	1.39	0.41654	D	0.989144	B	0.06786	0.001	B	0.08055	0.003	T	0.72450	-0.4290	10	0.44086	T	0.13	-9.5019	9.3951	0.38397	0.0:0.0:0.1802:0.8198	.	19	Q15831	STK11_HUMAN	P	19	ENSP00000324856:S19P	ENSP00000324856:S19P	S	+	1	0	STK11	1157967	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.717000	0.54911	0.362000	0.24319	0.379000	0.24179	TCG		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		16	72	0	0	0	1	0	16	72				
RPS11	6205	broad.mit.edu	37	19	50001263	50001263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50001263C>T	ENST00000270625.2	+	4	396	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	RPS11_ENST00000596873.1_Missense_Mutation_p.R105C|RPS11_ENST00000594493.1_Missense_Mutation_p.R26C|SNORD35B_ENST00000363660.1_RNA|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000599561.1_Missense_Mutation_p.A70V|MIR150_ENST00000385048.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CTTCGAGAAGCGCCACAAGAA	0.567																																						ENST00000270625.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7						c.(313-315)Cgc>Tgc		ribosomal protein S11							117.0	90.0	99.0					19																	50001263		2203	4300	6503	SO:0001583	missense	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50001263C>T	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.313C>T	19.37:g.50001263C>T	ENSP00000270625:p.Arg105Cys					RPS11_ENST00000594493.1_Missense_Mutation_p.R26C|RPS11_ENST00000596873.1_Missense_Mutation_p.R105C|RPS11_ENST00000599561.1_Missense_Mutation_p.A70V	p.R105C	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	4	396	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	105					B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	c.313C>T	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949952	0.53186	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.89	4.89	0.63831	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.109453	0.64402	N	0.000011	T	0.81740	0.4886	H	0.99712	4.72	0.80722	D	1	B	0.27229	0.172	B	0.13407	0.009	D	0.84106	0.0398	8	.	.	.	-23.5429	9.2385	0.37481	0.0:0.9009:0.0:0.0991	.	105	P62280	RS11_HUMAN	C	105	.	.	R	+	1	0	RPS11	54693075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.692000	0.61746	2.256000	0.74724	0.561000	0.74099	CGC		0.567	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		89	280	0	0	0	1	0	89	280				
SERPINI1	5274	broad.mit.edu	37	3	167508215	167508215	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167508215C>T	ENST00000295777.5	+	3	737	c.306C>T	c.(304-306)agC>agT	p.S102S	SERPINI1_ENST00000446050.2_Silent_p.S102S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	102					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTAAAGAGAGCCAATATGTGA	0.328																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(304-306)agC>agT		serpin peptidase inhibitor, clade I (neuroserpin), member 1							88.0	90.0	89.0					3																	167508215		2203	4300	6503	SO:0001819	synonymous_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508215C>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.306C>T	3.37:g.167508215C>T						SERPINI1_ENST00000446050.2_Silent_p.S102S	p.S102S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			3	737	+			102					A8K217|D3DNP1|Q6AHZ4	Silent	SNP	ENST00000295777.5	37	c.306C>T	CCDS3203.1																																																																																				0.328	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			52	357	0	0	0	1	0	52	357				
SIX4	51804	broad.mit.edu	37	14	61180513	61180513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61180513A>G	ENST00000216513.4	-	3	2017	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	653					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GACAGATGTCACAGTAGATTT	0.483																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1957-1959)gTg>gCg		SIX homeobox 4							128.0	104.0	112.0					14																	61180513		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61180513A>G	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1958T>C	14.37:g.61180513A>G	ENSP00000216513:p.Val653Ala						p.V653A	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	3	2017	-			653					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1958T>C	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699771	0.30142	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92099	-2.97;0.67	5.41	3.01	0.34805	.	0.806408	0.11312	N	0.577045	D	0.82779	0.5111	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.70156	-0.4949	10	0.23891	T	0.37	.	7.3826	0.26864	0.6588:0.2713:0.07:0.0	.	653	Q9UIU6	SIX4_HUMAN	A	653;326	ENSP00000216513:V653A;ENSP00000451537:V326A	ENSP00000216513:V653A	V	-	2	0	SIX4	60250266	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.702000	0.47102	0.422000	0.26005	0.533000	0.62120	GTG		0.483	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			24	155	0	0	0	1	0	24	155				
ALG9	79796	broad.mit.edu	37	11	111724395	111724395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111724395G>A	ENST00000531154.1	-	7	725	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Silent_p.L85L|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	256					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGGGCCATCAGCGACCAATGA	0.378																																						ENST00000398006.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(253-255)Ctg>Ttg		ALG9, alpha-1,2-mannosyltransferase							115.0	109.0	111.0					11																	111724395		1843	4086	5929	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111724395G>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.253C>T	11.37:g.111724395G>A						ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Silent_p.L85L	p.L85L	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	7	1161	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	256					Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	37	c.253C>T	CCDS41714.1																																																																																				0.378	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		56	301	0	0	0	1	0	56	301				
PIK3CG	5294	broad.mit.edu	37	7	106513208	106513208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513208C>T	ENST00000359195.3	+	4	2422	c.2112C>T	c.(2110-2112)gcC>gcT	p.A704A	PIK3CG_ENST00000440650.2_Silent_p.A704A|PIK3CG_ENST00000496166.1_Silent_p.A704A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	704	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGAGATAGCCCAGTCCAGAC	0.448																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2110-2112)gcC>gcT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							109.0	109.0	109.0					7																	106513208		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513208C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2112C>T	7.37:g.106513208C>T						PIK3CG_ENST00000496166.1_Silent_p.A704A|PIK3CG_ENST00000440650.2_Silent_p.A704A	p.A704A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			4	2422	+			704					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2112C>T	CCDS5739.1																																																																																				0.448	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			67	341	0	0	0	1	0	67	341				
KDM2A	22992	broad.mit.edu	37	11	67012741	67012741	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67012741T>C	ENST00000529006.2	+	14	2091	c.1645T>C	c.(1645-1647)Tta>Cta	p.L549L	KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000398645.2_Silent_p.L549L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.L7L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	549					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCTCCACGGTTAACACCTGT	0.547																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1645-1647)Tta>Cta		lysine (K)-specific demethylase 2A							107.0	115.0	112.0					11																	67012741		2045	4176	6221	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67012741T>C	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1645T>C	11.37:g.67012741T>C						KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000308783.5_Silent_p.L7L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.L549L	p.L549L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			14	2091	+			549					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.1645T>C	CCDS44657.1																																																																																				0.547	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		97	669	0	0	0	1	0	97	669				
NEIL3	55247	broad.mit.edu	37	4	178262667	178262667	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178262667A>C	ENST00000264596.3	+	6	858	c.740A>C	c.(739-741)aAg>aCg	p.K247T	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	247					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAACACTATAAGGTTTACAAG	0.408								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(739-741)aAg>aCg	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							87.0	81.0	83.0					4																	178262667		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178262667A>C	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.740A>C	4.37:g.178262667A>C	ENSP00000264596:p.Lys247Thr						p.K247T	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	6	858	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	247					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.740A>C	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811025	0.50421	.	.	ENSG00000109674	ENST00000264596	T	0.13657	2.57	5.76	4.6	0.57074	Zinc finger, DNA glycosylase/AP lyase-type (1);Ribosomal protein S13-like, H2TH (1);	0.104491	0.64402	D	0.000004	T	0.34483	0.0899	M	0.75264	2.295	0.49483	D	0.999798	D	0.89917	1.0	D	0.74674	0.984	T	0.05971	-1.0853	10	0.56958	D	0.05	-14.7212	11.2119	0.48804	0.9289:0.0:0.0711:0.0	.	247	Q8TAT5	NEIL3_HUMAN	T	247	ENSP00000264596:K247T	ENSP00000264596:K247T	K	+	2	0	NEIL3	178499661	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.990000	0.56965	2.202000	0.70862	0.533000	0.62120	AAG		0.408	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		65	223	0	0	0	1	0	65	223				
CCDC152	100129792	broad.mit.edu	37	5	42800927	42800927	+	3'UTR	SNP	C	C	T	rs17857312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42800927C>T	ENST00000361970.5	+	0	1896				SEPP1_ENST00000509276.1_5'Flank|SEPP1_ENST00000514985.1_Silent_p.L347L|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000511224.1_Silent_p.L347L|SEPP1_ENST00000506577.1_Silent_p.L347L	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						CAGCTGGAGGCAAACGTCACT	0.463																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(1039-1041)ttG>ttA		selenoprotein P, plasma, 1							84.0	81.0	82.0					5																	42800927		1961	4155	6116	SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42800927C>T		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1044C>T	5.37:g.42800927C>T						SEPP1_ENST00000506577.1_Silent_p.L347L|SEPP1_ENST00000511224.1_Silent_p.L347L|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000507920.1_3'UTR	p.L347L	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	1297	-			347	L -> F (in Ref. 5; AAH46152).				B3KXI4|B4E0P7|Q5BLP6	Silent	SNP	ENST00000361970.5	37	c.1041G>A	CCDS47203.1																																																																																				0.463	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		44	376	0	0	0	1	0	44	376				
SPOCK1	6695	broad.mit.edu	37	5	136314408	136314408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:136314408C>T	ENST00000394945.1	-	11	1424	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	SPOCK1_ENST00000509978.1_5'Flank|SPOCK1_ENST00000282223.7_Missense_Mutation_p.A419T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	419					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGTCACGGCTCGGGTGTGC	0.522																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(1255-1257)Gcc>Acc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							245.0	197.0	213.0					5																	136314408		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136314408C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1255G>A	5.37:g.136314408C>T	ENSP00000378401:p.Ala419Thr					SPOCK1_ENST00000282223.7_Missense_Mutation_p.A419T	p.A419T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		11	1424	-			419					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.1255G>A	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104973	0.77096	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.44083	0.93;0.93	5.16	5.16	0.70880	.	0.066495	0.64402	D	0.000008	T	0.44159	0.1280	L	0.51422	1.61	0.43868	D	0.996476	P	0.47409	0.895	P	0.44518	0.452	T	0.49263	-0.8958	10	0.87932	D	0	.	15.8164	0.78604	0.0:1.0:0.0:0.0	.	419	Q08629	TICN1_HUMAN	T	419	ENSP00000378401:A419T;ENSP00000282223:A419T	ENSP00000282223:A419T	A	-	1	0	SPOCK1	136342307	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	5.045000	0.64220	2.395000	0.81488	0.557000	0.71058	GCC		0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		14	755	0	0	0	1	0	14	755				
FAM149A	25854	broad.mit.edu	37	4	187077278	187077278	+	Missense_Mutation	SNP	G	G	A	rs201494456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187077278G>A	ENST00000356371.5	+	7	1381	c.1381G>A	c.(1381-1383)Gtc>Atc	p.V461I	FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	461								p.V170I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTTTGATCACGTCTGGACAAA	0.463																																						ENST00000356371.5																			1	Substitution - Missense(1)	p.V170I(1)	lung(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1381-1383)Gtc>Atc		family with sequence similarity 149, member A		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	120.0	112.0	114.0		508,508	2.8	0.3	4		114	0,8600		0,0,4300	yes	missense,missense	FAM149A	NM_015398.2,NM_001006655.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	170/483,170/483	187077278	1,13005	2203	4300	6503	SO:0001583	missense	25854							g.chr4:187077278G>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1381G>A	4.37:g.187077278G>A	ENSP00000348732:p.Val461Ile					FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I	p.V461I			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	7	1381	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	461					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.1381G>A		.	.	.	.	.	.	.	.	.	.	G	6.974	0.549723	0.13374	2.27E-4	0.0	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.16196	2.42;2.36;2.42;2.42;2.42;2.42	5.46	2.83	0.33086	.	0.777035	0.12119	N	0.497815	T	0.15522	0.0374	M	0.61703	1.905	0.09310	N	1	P;B;B	0.37500	0.597;0.339;0.304	B;B;B	0.26094	0.066;0.018;0.012	T	0.09335	-1.0679	10	0.36615	T	0.2	-12.3057	9.8554	0.41082	0.2838:0.0:0.7162:0.0	.	461;461;170	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	I	170;461;170;170;170;170	ENSP00000426835:V170I;ENSP00000348732:V461I;ENSP00000227065:V170I;ENSP00000427155:V170I;ENSP00000424380:V170I;ENSP00000374005:V170I	ENSP00000227065:V170I	V	+	1	0	FAM149A	187314272	0.036000	0.19791	0.305000	0.25099	0.089000	0.18198	0.262000	0.18460	0.445000	0.26639	0.650000	0.86243	GTC		0.463	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		76	516	0	0	0	1	0	76	516				
SYT7	9066	broad.mit.edu	37	11	61290707	61290707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61290707C>T	ENST00000263846.4	-	8	1274	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	316	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTCTCCACCCGCTTGTCCTT	0.562																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(946-948)cGg>cAg		synaptotagmin VII							209.0	164.0	179.0					11																	61290707		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61290707C>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.947G>A	11.37:g.61290707C>T	ENSP00000263846:p.Arg316Gln					SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q|SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q	p.R316Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			8	1274	-			316			C2 2.		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.947G>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697219	0.88830	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.53	4.53	0.55603	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.925;0.939	D	0.85729	0.1330	10	0.87932	D	0	.	17.8501	0.88744	0.0:1.0:0.0:0.0	.	391;316	F5GZU9;O43581	.;SYT7_HUMAN	Q	316;391;599;360;524;435	ENSP00000263846:R316Q;ENSP00000444201:R391Q;ENSP00000439694:R599Q;ENSP00000444568:R360Q;ENSP00000444019:R524Q;ENSP00000437720:R435Q	ENSP00000263846:R316Q	R	-	2	0	SYT7	61047283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.897000	0.69831	2.524000	0.85096	0.561000	0.74099	CGG		0.562	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		85	396	0	0	0	1	0	85	396				
ADCK2	90956	broad.mit.edu	37	7	140386814	140386814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140386814G>A	ENST00000072869.4	+	5	1508	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	444	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTTTGTCCATGCAGACCTTCA	0.537																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1330-1332)Gca>Aca		aarF domain containing kinase 2							137.0	125.0	129.0					7																	140386814		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140386814G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1330G>A	7.37:g.140386814G>A	ENSP00000072869:p.Ala444Thr					ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	p.A444T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			5	1508	+	Melanoma(164;0.00956)		444			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1330G>A	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.255380|4.255380	0.80135|0.80135	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512|ENST00000483369	T;T;T|.	0.12361|.	2.69;2.69;2.69|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.147326|.	0.46442|.	D|.	0.000299|.	T|T	0.77857|0.77857	0.4193|0.4193	M|M	0.77313|0.77313	2.365|2.365	0.47276|0.47276	D|D	0.999379|0.999379	B;P|.	0.52842|.	0.397;0.956|.	B;P|.	0.52424|.	0.278;0.698|.	T|T	0.77710|0.77710	-0.2486|-0.2486	10|5	0.87932|.	D|.	0|.	-18.9077|-18.9077	18.9433|18.9433	0.92612|0.92612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	444;444|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	T|Y	444;444;84|281	ENSP00000072869:A444T;ENSP00000420512:A444T;ENSP00000420288:A84T|.	ENSP00000072869:A444T|.	A|C	+|+	1|2	0|0	ADCK2|ADCK2	140033283|140033283	1.000000|1.000000	0.71417|0.71417	0.350000|0.350000	0.25708|0.25708	0.098000|0.098000	0.18820|0.18820	9.218000|9.218000	0.95166|0.95166	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.537	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		101	465	0	0	0	1	0	101	465				
IL1R2	7850	broad.mit.edu	37	2	102641091	102641091	+	Missense_Mutation	SNP	G	G	A	rs551509426		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102641091G>A	ENST00000332549.3	+	7	1077	c.848G>A	c.(847-849)aGc>aAc	p.S283N	IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N|IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	283	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CACATAGAGAGCGCCTACCCG	0.582																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(847-849)aGc>aAc		interleukin 1 receptor, type II	Anakinra(DB00026)						62.0	58.0	59.0					2																	102641091		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102641091G>A	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.848G>A	2.37:g.102641091G>A	ENSP00000330959:p.Ser283Asn					IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N|IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N|IL1R2_ENST00000485335.1_3'UTR	p.S283N	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			7	1077	+			283			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.848G>A	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726765	0.15439	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.22945	1.93;1.93;1.93	5.86	-11.7	0.00046	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.387270	0.00966	N	0.003179	T	0.05410	0.0143	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	10	0.16420	T	0.52	.	1.5337	0.02541	0.3941:0.2197:0.0787:0.3074	.	283	P27930	IL1R2_HUMAN	N	283	ENSP00000330959:S283N;ENSP00000377066:S283N;ENSP00000414611:S283N	ENSP00000330959:S283N	S	+	2	0	IL1R2	102007523	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.162000	0.01277	-3.249000	0.00205	0.650000	0.86243	AGC		0.582	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		61	324	0	0	0	1	0	61	324				
EVC	2121	broad.mit.edu	37	4	5803763	5803763	+	Silent	SNP	C	C	T	rs202236029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5803763C>T	ENST00000264956.6	+	16	2575	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	EVC_ENST00000382674.2_Silent_p.I797I	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	797					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCAGCAAATCGGAAGGATCA	0.602																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2389-2391)atC>atT		Ellis van Creveld syndrome							74.0	76.0	75.0					4																	5803763		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5803763C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2391C>T	4.37:g.5803763C>T						EVC_ENST00000264956.6_Silent_p.I797I	p.I797I			P57679	EVC_HUMAN			16	2575	+		Myeloproliferative disorder(84;0.117)	797						Silent	SNP	ENST00000264956.6	37	c.2391C>T	CCDS3383.1																																																																																				0.602	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			34	192	0	0	0	1	0	34	192				
KLB	152831	broad.mit.edu	37	4	39448080	39448080	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39448080T>G	ENST00000257408.4	+	4	1831	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	578	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AATGCACAGATTTTGTAAACA	0.512																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(1732-1734)gaT>gaG		klotho beta							101.0	104.0	103.0					4																	39448080		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448080T>G	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1734T>G	4.37:g.39448080T>G	ENSP00000257408:p.Asp578Glu						p.D578E	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	1831	+			578			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1734T>G	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984487	0.74474	.	.	ENSG00000134962	ENST00000257408	T	0.29142	1.58	5.68	-0.762	0.11034	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045170	0.85682	D	0.000000	T	0.38401	0.1039	L	0.53617	1.68	0.35765	D	0.820461	D;D	0.56746	0.977;0.977	P;P	0.57283	0.817;0.817	T	0.44050	-0.9353	10	0.42905	T	0.14	-24.6571	10.2208	0.43196	0.0:0.4305:0.0:0.5695	.	569;578	B7ZL50;Q86Z14	.;KLOTB_HUMAN	E	578	ENSP00000257408:D578E	ENSP00000257408:D578E	D	+	3	2	KLB	39124475	0.964000	0.33143	0.915000	0.36163	0.850000	0.48378	0.088000	0.14979	-0.100000	0.12241	0.397000	0.26171	GAT		0.512	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		67	308	0	0	0	1	0	67	308				
ELAVL2	1993	broad.mit.edu	37	9	23692688	23692688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23692688C>T	ENST00000397312.2	-	7	1221	c.947G>A	c.(946-948)tGc>tAc	p.C316Y	ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	316	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAAACCTTTGCATTTATTGGT	0.478																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(946-948)tGc>tAc		ELAV like neuron-specific RNA binding protein 2							136.0	116.0	123.0					9																	23692688		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23692688C>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.947G>A	9.37:g.23692688C>T	ENSP00000380479:p.Cys316Tyr					ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y	p.C316Y	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	7	1221	-			316			RRM 3.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.947G>A	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858770	0.51376	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.994	T	0.03597	-1.1021	10	0.87932	D	0	.	20.369	0.98888	0.0:1.0:0.0:0.0	.	316;303	Q12926;Q12926-2	ELAV2_HUMAN;.	Y	303;316;316;303;316;344	ENSP00000223951:C303Y;ENSP00000380479:C316Y;ENSP00000440998:C316Y;ENSP00000369460:C316Y	ENSP00000223951:C303Y	C	-	2	0	ELAVL2	23682688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.819000	0.97034	0.650000	0.86243	TGC		0.478	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		80	420	0	0	0	1	0	80	420				
MRPS2	51116	broad.mit.edu	37	9	138392846	138392846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138392846G>A	ENST00000371785.1	+	3	255	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T|C9orf116_ENST00000371791.1_Intron|RP11-426A6.5_ENST00000415062.1_RNA|C9orf116_ENST00000371789.3_5'Flank|C9orf116_ENST00000429260.2_5'Flank|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	16					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCCCCCAGGTGCCCGGGCCCC	0.716																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(46-48)Gcc>Acc		mitochondrial ribosomal protein S2							13.0	16.0	15.0					9																	138392846		2172	4246	6418	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138392846G>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.46G>A	9.37:g.138392846G>A	ENSP00000360850:p.Ala16Thr					C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T	p.A16T			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	3	255	+			16					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.46G>A	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389307	0.42410	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.36699	1.91;1.91;1.24	3.64	-1.15	0.09709	.	1.354340	0.05382	U	0.537332	T	0.22244	0.0536	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16276	-1.0408	10	0.11485	T	0.65	-4.5501	0.4291	0.00468	0.2622:0.1978:0.3387:0.2013	.	16	Q9Y399	RT02_HUMAN	T	16;16;30	ENSP00000360850:A16T;ENSP00000241600:A16T;ENSP00000400082:A30T	ENSP00000241600:A16T	A	+	1	0	MRPS2	137532667	0.094000	0.21725	0.011000	0.14972	0.102000	0.19082	0.105000	0.15333	-0.091000	0.12440	0.484000	0.47621	GCC		0.716	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			45	146	0	0	0	1	0	45	146				
LBX1	10660	broad.mit.edu	37	10	102988278	102988278	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102988278G>T	ENST00000370193.2	-	1	1273	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	99					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CTGACCTCCAGCCCCTTAAAC	0.721																																						ENST00000370193.2																			0				large_intestine(2)|lung(4)|ovary(1)	7						c.(295-297)Ctg>Atg		ladybird homeobox 1							7.0	6.0	7.0					10																	102988278		2157	4199	6356	SO:0001583	missense	10660				muscle organ development		sequence-specific DNA binding	g.chr10:102988278G>T	X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.295C>A	10.37:g.102988278G>T	ENSP00000359212:p.Leu99Met						p.L99M	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)	1	1273	-		Colorectal(252;0.234)	99					B9EGA2|Q05BB2	Missense_Mutation	SNP	ENST00000370193.2	37	c.295C>A	CCDS31270.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522727	0.85600	.	.	ENSG00000138136	ENST00000370193	D	0.94376	-3.41	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000002	D	0.95996	0.8696	M	0.79475	2.455	0.58432	D	0.999997	D	0.71674	0.998	D	0.68765	0.96	D	0.94652	0.7840	10	0.24483	T	0.36	.	16.3882	0.83523	0.0:0.0:1.0:0.0	.	99	P52954	LBX1_HUMAN	M	99	ENSP00000359212:L99M	ENSP00000359212:L99M	L	-	1	2	LBX1	102978268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.199000	0.72112	2.411000	0.81874	0.561000	0.74099	CTG		0.721	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562		4	12	1	0	2.0095e-06	1	2.07161e-06	4	12				
ABCA7	10347	broad.mit.edu	37	19	1045210	1045210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1045210G>A	ENST00000263094.6	+	12	1656	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	ABCA7_ENST00000433129.1_Silent_p.R475R|ABCA7_ENST00000435683.2_Silent_p.R337R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	475					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCACGAGGACCAATAAGA	0.652																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1423-1425)agG>agA		ATP-binding cassette, sub-family A (ABC1), member 7							30.0	31.0	31.0					19																	1045210		2202	4297	6499	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045210G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1425G>A	19.37:g.1045210G>A						ABCA7_ENST00000433129.1_Silent_p.R475R|ABCA7_ENST00000435683.2_Silent_p.R337R	p.R475R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1656	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	475					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.1425G>A	CCDS12055.1																																																																																				0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		10	326	0	0	0	1	0	10	326				
KLF12	11278	broad.mit.edu	37	13	74420163	74420163	+	Silent	SNP	G	G	A	rs141339758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:74420163G>A	ENST00000377669.2	-	3	497	c.471C>T	c.(469-471)ggC>ggT	p.G157G	KLF12_ENST00000377666.4_Silent_p.G157G|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	157					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAACTGCTGGCCTCCAACAC	0.498													G|||	6	0.00119808	0.0045	0.0	5008	,	,		21708	0.0		0.0	False		,,,				2504	0.0					ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(469-471)ggC>ggT		Kruppel-like factor 12		G		18,4388	24.3+/-50.5	0,18,2185	94.0	80.0	84.0		471	3.3	1.0	13	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	KLF12	NM_007249.4		0,18,6485	AA,AG,GG		0.0,0.4085,0.1384		157/403	74420163	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420163G>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.471C>T	13.37:g.74420163G>A						KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.G157G	p.G157G	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	3	497	-		Prostate(6;0.00217)|Breast(118;0.0838)	157					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.471C>T	CCDS9449.1																																																																																				0.498	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		26	140	0	0	0	1	0	26	140				
OBSCN	84033	broad.mit.edu	37	1	228481232	228481232	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228481232G>A	ENST00000422127.1	+	41	11090	c.11046G>A	c.(11044-11046)caG>caA	p.Q3682Q	OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000284548.11_Silent_p.Q3682Q|OBSCN_ENST00000570156.2_Silent_p.Q4111Q|OBSCN_ENST00000366709.4_Silent_p.Q801Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3682	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGCTGCAGATCCGCGGCC	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12331-12333)caG>caA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							96.0	103.0	101.0					1																	228481232		2183	4272	6455	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481232G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11046G>A	1.37:g.228481232G>A						OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000284548.11_Silent_p.Q3682Q|OBSCN_ENST00000422127.1_Silent_p.Q3682Q|OBSCN_ENST00000366709.4_Silent_p.Q801Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q	p.Q4111Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			46	12407	+		Prostate(94;0.0405)	3153			Ig-like 42.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.12333G>A	CCDS58065.1																																																																																				0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		85	425	0	0	0	1	0	85	425				
MEI1	150365	broad.mit.edu	37	22	42128307	42128307	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128307G>A	ENST00000401548.3	+	10	1195	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	MEI1_ENST00000540833.1_Silent_p.L125L|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACATAGAGCTGCACAAGCAGG	0.557																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1153-1155)ctG>ctA		meiosis inhibitor 1							62.0	69.0	67.0					22																	42128307		2076	4208	6284	SO:0001819	synonymous_variant	150365						binding	g.chr22:42128307G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1155G>A	22.37:g.42128307G>A						MEI1_ENST00000540833.1_Silent_p.L125L|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	p.L385L	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			10	1195	+			385						Silent	SNP	ENST00000401548.3	37	c.1155G>A	CCDS46718.1																																																																																				0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		27	66	0	0	0	1	0	27	66				
DHCR7	1717	broad.mit.edu	37	11	71146496	71146496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71146496G>A	ENST00000355527.3	-	9	1629	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	DHCR7_ENST00000407721.2_Silent_p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	451					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ACTTGCTGGCGCAGCGGTGCT	0.662									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(1351-1353)tgC>tgT		7-dehydrocholesterol reductase	NADH(DB00157)						39.0	43.0	42.0					11																	71146496		2197	4293	6490	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146496G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1353C>T	11.37:g.71146496G>A						DHCR7_ENST00000407721.2_Silent_p.C451C	p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			9	1629	-			451					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.1353C>T	CCDS8200.1																																																																																				0.662	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		20	425	0	0	0	1	0	20	425				
NOL4	8715	broad.mit.edu	37	18	31537445	31537445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31537445G>A	ENST00000261592.5	-	8	1570	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	NOL4_ENST00000535475.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Nonsense_Mutation_p.R140*|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	425						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGGACCATTCGGTCCAAGTTT	0.488																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1273-1275)Cga>Tga		nucleolar protein 4							90.0	74.0	80.0					18																	31537445		2203	4300	6503	SO:0001587	stop_gained	8715					nucleolus	RNA binding	g.chr18:31537445G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1273C>T	18.37:g.31537445G>A	ENSP00000261592:p.Arg425*					NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Nonsense_Mutation_p.R140*|NOL4_ENST00000535475.1_Intron	p.R425*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			8	1570	-			425					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Nonsense_Mutation	SNP	ENST00000261592.5	37	c.1273C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	40	8.247237	0.98724	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4849	20.5073	0.99209	0.0:0.0:1.0:0.0	.	.	.	.	X	425;140;351	.	ENSP00000261592:R425X	R	-	1	2	NOL4	29791443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.855000	0.98099	0.585000	0.79938	CGA		0.488	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		30	179	0	0	0	1	0	30	179				
ZHX2	22882	broad.mit.edu	37	8	123963770	123963770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123963770C>T	ENST00000314393.4	+	3	855	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	7					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACGAAAATCTACAACTCCA	0.493																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(19-21)tCt>tTt		zinc fingers and homeoboxes 2							44.0	38.0	40.0					8																	123963770		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123963770C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.20C>T	8.37:g.123963770C>T	ENSP00000314709:p.Ser7Phe						p.S7F	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	855	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		7						Missense_Mutation	SNP	ENST00000314393.4	37	c.20C>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297762	0.95574	.	.	ENSG00000178764	ENST00000314393	T	0.33654	1.4	5.86	5.86	0.93980	.	0.056836	0.64402	D	0.000001	T	0.65760	0.2722	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68025	-0.5518	10	0.87932	D	0	-11.8845	20.1829	0.98210	0.0:1.0:0.0:0.0	.	7	Q9Y6X8	ZHX2_HUMAN	F	7	ENSP00000314709:S7F	ENSP00000314709:S7F	S	+	2	0	ZHX2	124032951	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.247000	0.78257	2.767000	0.95098	0.561000	0.74099	TCT		0.493	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		18	85	0	0	0	1	0	18	85				
MAP1B	4131	broad.mit.edu	37	5	71490541	71490541	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490541G>A	ENST00000296755.7	+	5	1657	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	453					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATTCATTCTGCCTAATGGTC	0.433																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1357-1359)ctG>ctA		microtubule-associated protein 1B							106.0	107.0	106.0					5																	71490541		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490541G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1359G>A	5.37:g.71490541G>A							p.L453L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1657	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	453					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.1359G>A	CCDS4012.1																																																																																				0.433	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		79	390	0	0	0	1	0	79	390				
SPPL2C	162540	broad.mit.edu	37	17	43923407	43923407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43923407C>T	ENST00000329196.5	+	1	1152	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	379						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CTCCTCCTTCCTGCTGGCCCT	0.607																																						ENST00000329196.5																			0											c.(1135-1137)Ctg>Ttg		signal peptide peptidase like 2C							71.0	71.0	71.0					17																	43923407		2203	4300	6503	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923407C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1135C>T	17.37:g.43923407C>T						MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.L379L	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	1152	+			379					Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.1135C>T	CCDS32673.1																																																																																				0.607	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		52	213	0	0	0	1	0	52	213				
JUND	3727	broad.mit.edu	37	19	18391375	18391375	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18391375T>C	ENST00000252818.3	-	1	1057	c.920A>G	c.(919-921)aAc>aGc	p.N307S	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	307	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						CAGCTCCGTGTTCTGACTCTT	0.652																																						ENST00000252818.3																			0				lung(2)|prostate(1)	3						c.(919-921)aAc>aGc		jun D proto-oncogene							20.0	21.0	21.0					19																	18391375		2202	4297	6499	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391375T>C		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.920A>G	19.37:g.18391375T>C	ENSP00000252818:p.Asn307Ser						p.N307S	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	1057	-			307			Leucine-zipper.		Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.920A>G	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	19.21	3.784443	0.70222	.	.	ENSG00000130522	ENST00000252818	T	0.71579	-0.58	3.2	3.2	0.36748	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.81216	0.4776	M	0.76433	2.335	0.54753	D	0.999989	D	0.76494	0.999	D	0.85130	0.997	T	0.82484	-0.0434	10	0.87932	D	0	.	9.7586	0.40519	0.0:0.0:0.0:1.0	.	307	P17535	JUND_HUMAN	S	307	ENSP00000252818:N307S	ENSP00000252818:N307S	N	-	2	0	JUND	18252375	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	7.192000	0.77771	1.465000	0.48006	0.375000	0.23000	AAC		0.652	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		36	124	0	0	0	1	0	36	124				
PCDHA7	56141	broad.mit.edu	37	5	140214937	140214937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140214937C>T	ENST00000525929.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGGCTGTCGATAAAGGCT	0.473																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(967-969)gtC>gtT									138.0	122.0	127.0					5																	140214937		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140214937C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.969C>T	5.37:g.140214937C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.V323V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	969	+								O75282	Silent	SNP	ENST00000525929.1	37	c.969C>T	CCDS54918.1																																																																																				0.473	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		64	269	0	0	0	1	0	64	269				
RASSF5	83593	broad.mit.edu	37	1	206730965	206730965	+	Intron	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206730965T>C	ENST00000355294.4	+	2	636				RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000304534.8_Missense_Mutation_p.F22L	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGAAGACTGCTTCTTCACTGC	0.527																																					GBM(162;656 1984 11916 22872 31529)	ENST00000304534.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(64-66)Ttc>Ctc		Ras association (RalGDS/AF-6) domain family member 5							103.0	96.0	99.0					1																	206730965		2203	4300	6503	SO:0001627	intron_variant	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206730965T>C	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.579+19343T>C	1.37:g.206730965T>C						RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000338603.2_Intron|RASSF5_ENST00000355294.4_Intron	p.F22L	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		1	473	+	Breast(84;0.183)		0					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.64T>C	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	T	33	5.249772	0.95305	.	.	ENSG00000136653	ENST00000304534	T	0.15718	2.4	5.25	5.25	0.73442	.	.	.	.	.	T	0.36717	0.0977	L	0.60455	1.87	0.39485	D	0.967942	D	0.67145	0.996	D	0.70935	0.971	T	0.20874	-1.0262	9	0.72032	D	0.01	.	13.1024	0.59228	0.0:0.0:0.0:1.0	.	22	Q8WWW0-2	.	L	22	ENSP00000306091:F22L	ENSP00000306091:F22L	F	+	1	0	RASSF5	204797588	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.559000	0.73946	1.972000	0.57404	0.533000	0.62120	TTC		0.527	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		19	379	0	0	0	1	0	19	379				
FRMD8	83786	broad.mit.edu	37	11	65172384	65172384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65172384C>T	ENST00000317568.5	+	10	1284	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V|FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	374	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGAGCCAGGCGGCGGAGCCC	0.687																																						ENST00000317568.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						c.(1120-1122)gCg>gTg		FERM domain containing 8							31.0	34.0	33.0					11																	65172384		2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65172384C>T	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1121C>T	11.37:g.65172384C>T	ENSP00000319726:p.Ala374Val					FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V|FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V	p.A374V	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN			10	1284	+			374			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.1121C>T	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	C	8.382	0.837694	0.16891	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.83506	-1.73;-1.14;-1.73	5.09	4.17	0.49024	FERM domain (1);	0.730035	0.12832	N	0.435558	T	0.71888	0.3393	N	0.16478	0.41	0.09310	N	1	B;B;B	0.24721	0.002;0.04;0.11	B;B;B	0.17722	0.001;0.019;0.006	T	0.54918	-0.8221	10	0.27785	T	0.31	-0.2797	14.7452	0.69485	0.0:0.9198:0.0:0.0802	.	340;318;374	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	V	374;318;340	ENSP00000319726:A374V;ENSP00000348270:A318V;ENSP00000392111:A340V	ENSP00000319726:A374V	A	+	2	0	FRMD8	64928960	0.940000	0.31905	0.293000	0.24932	0.005000	0.04900	2.398000	0.44486	0.659000	0.30945	-0.797000	0.03246	GCG		0.687	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		46	259	0	0	0	1	0	46	259				
PHPT1	29085	broad.mit.edu	37	9	139743961	139743961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743961G>A	ENST00000247665.10	+	1	416	c.79G>A	c.(79-81)Gtc>Atc	p.V27I	MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000545326.1_Missense_Mutation_p.V27I|PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000492540.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	27				V -> I (in Ref. 4; CAB66579). {ECO:0000305}.	negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGATCCGAGTCCACTCGGC	0.647																																						ENST00000545326.1																			0				NS(1)|large_intestine(1)|lung(1)	3						c.(79-81)Gtc>Atc		phosphohistidine phosphatase 1							77.0	76.0	76.0					9																	139743961		2202	4300	6502	SO:0001583	missense	29085					cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity	g.chr9:139743961G>A	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.79G>A	9.37:g.139743961G>A	ENSP00000247665:p.Val27Ile					PHPT1_ENST00000247665.10_Missense_Mutation_p.V27I|PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I|PHPT1_ENST00000492540.1_3'UTR	p.V27I	NM_001135861.1	NP_001129333.1	Q9NRX4	PHP14_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	1	706	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)	27	V -> I (in Ref. 4; CAB66579).				B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.79G>A	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222829	0.58668	.	.	ENSG00000054148	ENST00000371661;ENST00000545326;ENST00000247665	.	.	.	4.23	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.67011	0.2848	M	0.62266	1.93	0.54753	D	0.999984	D;D	0.69078	0.997;0.965	D;P	0.66084	0.941;0.774	T	0.63363	-0.6654	9	0.26408	T	0.33	-4.684	10.0652	0.42299	0.1011:0.0:0.8989:0.0	.	27;27	Q9NRX4-2;Q9NRX4	.;PHP14_HUMAN	I	27	.	ENSP00000247665:V27I	V	+	1	0	PHPT1	138863782	0.998000	0.40836	0.987000	0.45799	0.401000	0.30781	1.948000	0.40303	1.004000	0.39156	-0.452000	0.05504	GTC		0.647	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		77	354	0	0	0	1	0	77	354				
MAST3	23031	broad.mit.edu	37	19	18239701	18239701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18239701G>A	ENST00000262811.6	+	12	1076	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	359							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCCAGTCACGGAGGAAGCCA	0.597																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1075-1077)cGg>cAg		microtubule associated serine/threonine kinase 3							76.0	80.0	79.0					19																	18239701		2014	4177	6191	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18239701G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1076G>A	19.37:g.18239701G>A	ENSP00000262811:p.Arg359Gln						p.R359Q	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			12	1076	+			359					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.1076G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102796	0.56183	.	.	ENSG00000099308	ENST00000262811	T	0.68479	-0.33	5.27	5.27	0.74061	.	0.236652	0.40818	N	0.001014	T	0.43389	0.1245	N	0.08118	0	0.49483	D	0.999798	B	0.34329	0.449	B	0.20767	0.031	T	0.44128	-0.9348	10	0.18276	T	0.48	-20.9685	17.8957	0.88887	0.0:0.0:1.0:0.0	.	359	O60307	MAST3_HUMAN	Q	359	ENSP00000262811:R359Q	ENSP00000262811:R359Q	R	+	2	0	MAST3	18100701	1.000000	0.71417	0.980000	0.43619	0.910000	0.53928	7.891000	0.87319	2.460000	0.83146	0.561000	0.74099	CGG		0.597	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		61	302	0	0	0	1	0	61	302				
POLR1A	25885	broad.mit.edu	37	2	86302248	86302248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86302248C>T	ENST00000263857.6	-	12	1894	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A506T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	506					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCGCTCAGGGCTGTGCGGCTG	0.602																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1516-1518)Gcc>Acc		polymerase (RNA) I polypeptide A, 194kDa							34.0	37.0	36.0					2																	86302248		2039	4198	6237	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86302248C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1516G>A	2.37:g.86302248C>T	ENSP00000263857:p.Ala506Thr					POLR1A_ENST00000409681.1_Missense_Mutation_p.A506T	p.A506T			O95602	RPA1_HUMAN			12	1894	-			506					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1516G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513454	0.44660	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.65916	-0.18;-0.18	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.221836	0.46758	D	0.000277	T	0.46658	0.1404	N	0.17474	0.49	0.32586	N	0.527869	P	0.36086	0.536	B	0.42738	0.396	T	0.52396	-0.8581	10	0.14252	T	0.57	-23.0664	8.9405	0.35727	0.0:0.8361:0.0:0.1639	.	506	O95602	RPA1_HUMAN	T	506	ENSP00000263857:A506T;ENSP00000386300:A506T	ENSP00000263857:A506T	A	-	1	0	POLR1A	86155759	0.994000	0.37717	0.947000	0.38551	0.872000	0.50106	2.731000	0.47343	2.606000	0.88127	0.655000	0.94253	GCC		0.602	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		7	140	0	0	0	1	0	7	140				
SEC61A2	55176	broad.mit.edu	37	10	12204260	12204260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12204260G>A	ENST00000298428.9	+	11	1305	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N|SEC61A2_ENST00000379033.3_Missense_Mutation_p.D384N|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	406					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGGCCACCGAGATACCTCTAT	0.428																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1150-1152)Gat>Aat		Sec61 alpha 2 subunit (S. cerevisiae)							242.0	225.0	231.0					10																	12204260		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12204260G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1216G>A	10.37:g.12204260G>A	ENSP00000298428:p.Asp406Asn					SEC61A2_ENST00000298428.9_Missense_Mutation_p.D406N|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N	p.D384N	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			10	1297	+		Renal(717;0.228)	406					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.1150G>A	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.462134|3.462134	0.63513|0.63513	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560|ENST00000419021	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.79070|0.79070	0.4384|0.4384	M|M	0.78801|0.78801	2.425|2.425	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.24920|.	0.0;0.114;0.004|.	B;B;B|.	0.33620|.	0.036;0.167;0.074|.	T|T	0.80200|0.80200	-0.1481|-0.1481	9|6	0.51188|0.66056	T|D	0.08|0.02	-9.5732|-9.5732	19.1612|19.1612	0.93533|0.93533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	384;406;406|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	N|K	384;406;406;340;154|157	.|.	ENSP00000298428:D406N|ENSP00000402124:R157K	D|R	+|+	1|2	0|0	SEC61A2|SEC61A2	12244266|12244266	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.288000|0.288000	0.27193|0.27193	9.869000|9.869000	0.99810|0.99810	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.428	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		162	669	0	0	0	1	0	162	669				
COL6A1	1291	broad.mit.edu	37	21	47423624	47423624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47423624C>T	ENST00000361866.3	+	35	2898	c.2784C>T	c.(2782-2784)cgC>cgT	p.R928R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	928	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCTTCTACCGCGAGGCCTCGT	0.637																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2782-2784)cgC>cgT		collagen, type VI, alpha 1	Palifermin(DB00039)						31.0	26.0	28.0					21																	47423624		2202	4298	6500	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423624C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2784C>T	21.37:g.47423624C>T						COL6A1_ENST00000498614.1_3'UTR	p.R928R	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2898	+	all_hematologic(128;0.24)		928			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2784C>T	CCDS13727.1																																																																																				0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		42	153	0	0	0	1	0	42	153				
BAIAP3	8938	broad.mit.edu	37	16	1394480	1394480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1394480G>A	ENST00000324385.5	+	18	1876	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R502H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	573					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGAGGCAACCGTGAGTGGTAC	0.612																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1717-1719)cGt>cAt		BAI1-associated protein 3							102.0	102.0	102.0					16																	1394480		2199	4300	6499	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1394480G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1718G>A	16.37:g.1394480G>A	ENSP00000324510:p.Arg573His					BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R502H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H	p.R573H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			18	1876	+		Hepatocellular(780;0.0893)	573					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.1718G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870421	0.33069	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71817	-0.59;-0.59;-0.6;-0.59;-0.6	4.17	0.721	0.18219	.	0.510616	0.20686	N	0.087546	T	0.55433	0.1920	L	0.47716	1.5	0.20873	N	0.999833	P;P;P;P	0.49696	0.916;0.834;0.927;0.834	B;B;B;B	0.40782	0.247;0.255;0.255;0.34	T	0.50866	-0.8777	10	0.45353	T	0.12	-8.1547	4.0236	0.09677	0.1184:0.0:0.4607:0.4209	.	502;515;573;555	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	538;555;573;555;502	ENSP00000407242:R538H;ENSP00000380625:R555H;ENSP00000324510:R573H;ENSP00000380626:R555H;ENSP00000409533:R502H	ENSP00000324510:R573H	R	+	2	0	BAIAP3	1334481	0.481000	0.25941	0.818000	0.32626	0.847000	0.48162	1.203000	0.32284	0.826000	0.34661	0.491000	0.48974	CGT		0.612	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			129	427	0	0	0	1	0	129	427				
DST	667	broad.mit.edu	37	6	56516029	56516029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56516029C>A	ENST00000361203.3	-	7	602	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	DST_ENST00000421834.2_Missense_Mutation_p.D199Y|DST_ENST00000370788.2_Missense_Mutation_p.D199Y|DST_ENST00000312431.6_Missense_Mutation_p.D199Y|DST_ENST00000370769.4_Missense_Mutation_p.D199Y|DST_ENST00000370754.5_Missense_Mutation_p.D377Y			Q03001	DYST_HUMAN	dystonin	199	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTATTCATATCTATCAGGTCC	0.343																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(1129-1131)Gat>Tat		dystonin							31.0	29.0	30.0					6																	56516029		1831	4075	5906	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56516029C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.595G>T	6.37:g.56516029C>A	ENSP00000354508:p.Asp199Tyr					DST_ENST00000370769.4_Missense_Mutation_p.D199Y|DST_ENST00000312431.6_Missense_Mutation_p.D199Y|DST_ENST00000421834.2_Missense_Mutation_p.D199Y|DST_ENST00000361203.3_Missense_Mutation_p.D199Y|DST_ENST00000370788.2_Missense_Mutation_p.D199Y	p.D377Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		10	1128	-	Lung NSC(77;0.103)		199					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.1129G>T		.	.	.	.	.	.	.	.	.	.	C	18.26	3.584457	0.65992	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297	D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.56097	D	0.000021	D	0.98204	0.9406	.	.	.	0.39033	D	0.959982	D;D;D;D;D;D	0.89917	0.976;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.97110	0.756;1.0;0.999;0.999;0.999;1.0	D	0.98713	1.0705	8	0.87932	D	0	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	228;199;199;377;315;199	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	Y	377;199;199;199;199;199;239;377	ENSP00000359790:D377Y;ENSP00000359805:D199Y;ENSP00000400883:D199Y;ENSP00000307959:D199Y;ENSP00000359824:D199Y;ENSP00000354508:D199Y;ENSP00000431030:D239Y;ENSP00000393082:D377Y	ENSP00000307959:D199Y	D	-	1	0	DST	56623988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.786000	0.95864	0.563000	0.77884	GAT		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	56	1	0	5.50884e-06	1	5.65664e-06	12	56				
ZNF365	22891	broad.mit.edu	37	10	64414614	64414614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64414614C>T	ENST00000395251.1	+	3	384	c.50C>T	c.(49-51)aCa>aTa	p.T17I	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	17										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					tgctggaatacagagaggaac	0.463																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(49-51)aCa>aTa		zinc finger protein 365							145.0	147.0	146.0					10																	64414614		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64414614C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.50C>T	10.37:g.64414614C>T	ENSP00000378672:p.Thr17Ile					ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	p.T17I	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			3	384	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		17						Missense_Mutation	SNP	ENST00000395251.1	37	c.50C>T	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542565	0.04053	.	.	ENSG00000138311	ENST00000395251	T	0.52983	0.64	1.95	-0.14	0.13456	.	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.19614	-1.0300	9	0.87932	D	0	.	3.9428	0.09334	0.0:0.5105:0.0:0.4895	.	17	Q70YC4	TALAN_HUMAN	I	17	ENSP00000378672:T17I	ENSP00000345300:T17I	T	+	2	0	ZNF365	64084620	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.960000	0.29253	-0.031000	0.13781	0.462000	0.41574	ACA		0.463	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		116	517	0	0	0	1	0	116	517				
RBM27	54439	broad.mit.edu	37	5	145651170	145651170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145651170G>A	ENST00000265271.5	+	19	3087	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H	RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	974					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGACCATCGTCCCAAAGCA	0.468																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2920-2922)cGt>cAt		RNA binding motif protein 27							147.0	143.0	144.0					5																	145651170		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145651170G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2921G>A	5.37:g.145651170G>A	ENSP00000265271:p.Arg974His					RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	p.R974H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	3087	+			974					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2921G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228901	0.95173	.	.	ENSG00000091009	ENST00000265271	D	0.83075	-1.68	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.92034	0.7476	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.93196	0.6587	10	0.87932	D	0	-6.646	18.7687	0.91882	0.0:0.0:1.0:0.0	.	974	Q9P2N5	RBM27_HUMAN	H	974	ENSP00000265271:R974H	ENSP00000265271:R974H	R	+	2	0	RBM27	145631363	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.005000	0.93587	2.517000	0.84864	0.650000	0.86243	CGT		0.468	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		57	297	0	0	0	1	0	57	297				
ATG14	22863	broad.mit.edu	37	14	55836433	55836433	+	Silent	SNP	C	C	T	rs147545593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55836433C>T	ENST00000247178.5	-	10	1418	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	461	BATS. {ECO:0000250}.				autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TGGGTGGGGACGCCTGGGTGC	0.577																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1381-1383)gcG>gcA		autophagy related 14		C		0,4406		0,0,2203	106.0	96.0	99.0		1383	-1.7	0.1	14	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATG14	NM_014924.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		461/493	55836433	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55836433C>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1383G>A	14.37:g.55836433C>T							p.A461A	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			10	1418	-			461					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	c.1383G>A	CCDS32087.1																																																																																				0.577	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		75	339	0	0	0	1	0	75	339				
EHMT1	79813	broad.mit.edu	37	9	140729348	140729348	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140729348G>A	ENST00000460843.1	+	27	3867	c.3840G>A	c.(3838-3840)gaG>gaA	p.E1280E		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1280					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGGCCCAGGAGGCCCAGGAGG	0.756																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3838-3840)gaG>gaA		euchromatic histone-lysine N-methyltransferase 1							10.0	11.0	11.0					9																	140729348		2161	4158	6319	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140729348G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3840G>A	9.37:g.140729348G>A							p.E1280E	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	27	3867	+	all_cancers(76;0.164)		1280					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3840G>A	CCDS7050.2																																																																																				0.756	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		19	112	0	0	0	1	0	19	112				
CD86	942	broad.mit.edu	37	3	121810499	121810499	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121810499T>C	ENST00000330540.2	+	2	180		c.e2+2		CD86_ENST00000469710.1_Intron|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Splice_Site|CD86_ENST00000264468.5_Splice_Site	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule						aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGCTCTCTGGTAAGAACCTTT	0.438																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.e2+2		CD86 molecule	Abatacept(DB01281)						281.0	268.0	273.0					3																	121810499		2203	4300	6503	SO:0001630	splice_region_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121810499T>C		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.64+2T>C	3.37:g.121810499T>C						CD86_ENST00000469710.1_Intron|CD86_ENST00000264468.5_Splice_Site|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000393627.2_Splice_Site		NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	2	180	+								A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Splice_Site	SNP	ENST00000330540.2	37		CCDS3009.1	.	.	.	.	.	.	.	.	.	.	T	8.352	0.831086	0.16820	.	.	ENSG00000114013	ENST00000493101;ENST00000330540;ENST00000264468;ENST00000482356;ENST00000393627;ENST00000478741	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3554	0.43960	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD86	123293189	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	3.066000	0.50002	2.216000	0.71823	0.533000	0.62120	.		0.438	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	Intron	258	1133	0	0	0	1	0	258	1133				
CTNNA1	1495	broad.mit.edu	37	5	138221925	138221925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138221925G>A	ENST00000302763.7	+	8	1177	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A363T|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	363	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGAAGTGATGCACTCAATTC	0.368																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1087-1089)Gca>Aca		catenin (cadherin-associated protein), alpha 1, 102kDa							137.0	143.0	141.0					5																	138221925		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138221925G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1087G>A	5.37:g.138221925G>A	ENSP00000304669:p.Ala363Thr					CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A363T	p.A363T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	1177	+			363			Interaction with alpha-actinin.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1087G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559375	0.27827	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38887	1.11;1.11;1.11	5.82	4.95	0.65309	.	0.103523	0.64402	D	0.000004	T	0.30510	0.0767	N	0.21373	0.66	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.008	B;B;B	0.19666	0.025;0.006;0.026	T	0.06789	-1.0807	10	0.15066	T	0.55	-10.4149	15.9414	0.79756	0.0:0.0:0.8638:0.1362	.	363;240;363	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	260;363;363;348;363	ENSP00000347190:A260T;ENSP00000304669:A363T;ENSP00000427821:A363T	ENSP00000304669:A363T	A	+	1	0	CTNNA1	138249824	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.597000	0.67577	1.447000	0.47661	-0.182000	0.12963	GCA		0.368	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		40	505	0	0	0	1	0	40	505				
ICAM3	3385	broad.mit.edu	37	19	10444592	10444592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444592G>A	ENST00000160262.5	-	7	1793	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.P452S	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	529					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GACGTGAGGGGCAGATAGGTG	0.587																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1354-1356)Ccc>Tcc		intercellular adhesion molecule 3							192.0	166.0	175.0					19																	10444592		2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10444592G>A		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1585C>T	19.37:g.10444592G>A	ENSP00000160262:p.Pro529Ser					ICAM3_ENST00000160262.5_Missense_Mutation_p.P529S	p.P452S			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		7	1886	-			529			Ig-like C2-type 5.		Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.1354C>T	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822346	0.71028	.	.	ENSG00000076662	ENST00000160262	T	0.02421	4.3	4.48	2.34	0.29019	.	0.722845	0.11948	N	0.513942	T	0.02193	0.0068	L	0.27053	0.805	0.22489	N	0.999056	B	0.33528	0.416	B	0.25884	0.064	T	0.46652	-0.9176	10	0.62326	D	0.03	-9.2889	6.0761	0.19915	0.2378:0.0:0.7622:0.0	.	529	P32942	ICAM3_HUMAN	S	529	ENSP00000160262:P529S	ENSP00000160262:P529S	P	-	1	0	ICAM3	10305592	0.839000	0.29477	0.732000	0.30844	0.568000	0.35870	0.518000	0.22847	0.601000	0.29879	0.561000	0.74099	CCC		0.587	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			62	671	0	0	0	1	0	62	671				
AFG3L2	10939	broad.mit.edu	37	18	12358738	12358738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12358738C>A	ENST00000269143.3	-	8	1188	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	319					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ATTCCATGATCTCTAGCTTGG	0.398																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(955-957)gaG>gaT		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						89.0	80.0	83.0					18																	12358738		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358738C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.957G>T	18.37:g.12358738C>A	ENSP00000269143:p.Glu319Asp						p.E319D	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			8	1188	-			319					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.957G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179849	0.57800	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.57107	0.42	5.76	0.779	0.18550	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.80183	2.485	0.58432	D	0.999997	P	0.37864	0.61	B	0.36534	0.227	T	0.55398	-0.8147	10	0.87932	D	0	.	10.1341	0.42695	0.0:0.6623:0.0:0.3377	.	319	Q9Y4W6	AFG32_HUMAN	D	319;334	ENSP00000269143:E319D	ENSP00000269143:E319D	E	-	3	2	AFG3L2	12348738	0.998000	0.40836	0.988000	0.46212	0.984000	0.73092	0.611000	0.24268	0.069000	0.16605	0.655000	0.94253	GAG		0.398	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		66	238	1	0	2.18419e-29	1	2.55125e-29	66	238				
FUS	2521	broad.mit.edu	37	16	31202336	31202336	+	Silent	SNP	C	C	T	rs112061837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31202336C>T	ENST00000254108.7	+	14	1551	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	FUS_ENST00000380244.3_Silent_p.G481G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.G483G	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	482	Arg/Gly-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)		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)		ATGATCGAGGCGGCTACCGGG	0.602			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)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1444-1446)ggC>ggT		fused in sarcoma							47.0	57.0	54.0					16																	31202336		2196	4300	6496	SO:0001819	synonymous_variant	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31202336C>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.1446C>T	16.37:g.31202336C>T						FUS_ENST00000380244.3_Silent_p.G481G|FUS_ENST00000568685.1_Silent_p.G483G|FUS_ENST00000474990.1_3'UTR	p.G482G	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)	14	1551	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	482			Arg/Gly-rich.		Q9H4A8	Silent	SNP	ENST00000254108.7	37	c.1446C>T	CCDS10707.1																																																																																				0.602	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		107	502	0	0	0	1	0	107	502				
PCDHGB6	56100	broad.mit.edu	37	5	140788005	140788005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140788005C>T	ENST00000520790.1	+	1	236	c.236C>T	c.(235-237)gCg>gTg	p.A79V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTAGACGCGGAGAGCGGG	0.532																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(235-237)gCg>gTg									128.0	134.0	132.0					5																	140788005		1958	4148	6106	SO:0001583	missense	0							g.chr5:140788005C>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.236C>T	5.37:g.140788005C>T	ENSP00000428603:p.Ala79Val					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A79V	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	236	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.236C>T	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	9.378	1.072243	0.20147	.	.	ENSG00000253305	ENST00000520790	T	0.38722	1.12	5.38	0.674	0.17946	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31358	0.0794	L	0.42008	1.315	0.09310	N	1	P;P	0.46952	0.813;0.887	B;B	0.43658	0.426;0.3	T	0.17868	-1.0355	9	0.13470	T	0.59	.	6.4485	0.21890	0.0:0.4606:0.2178:0.3216	.	79;79	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	V	79	ENSP00000428603:A79V	ENSP00000428603:A79V	A	+	2	0	PCDHGB6	140768189	0.000000	0.05858	0.942000	0.38095	0.936000	0.57629	-3.008000	0.00649	-0.082000	0.12640	0.467000	0.42956	GCG		0.532	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		124	462	0	0	0	1	0	124	462				
FOXO3	2309	broad.mit.edu	37	6	108985303	108985303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108985303C>A	ENST00000343882.6	+	3	1571	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M|FOXO3_ENST00000406360.1_Missense_Mutation_p.L423M	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	423					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGCTCGGGCCTGGGCTCCCC	0.602																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1267-1269)Ctg>Atg		forkhead box O3							67.0	72.0	70.0					6																	108985303		2203	4300	6503	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985303C>A	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1267C>A	6.37:g.108985303C>A	ENSP00000339527:p.Leu423Met					FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M|FOXO3_ENST00000343882.6_Missense_Mutation_p.L423M	p.L423M	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1610	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	423					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1267C>A	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068588	0.20067	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.96967	-4.19;-4.19;-4.19	5.81	3.11	0.35812	.	0.613858	0.16574	N	0.208517	D	0.88665	0.6498	L	0.53249	1.67	0.43394	D	0.995517	P	0.45283	0.855	B	0.35859	0.212	D	0.84560	0.0649	10	0.45353	T	0.12	-2.6743	6.1388	0.20249	0.1303:0.6724:0.0:0.1973	.	423	O43524	FOXO3_HUMAN	M	423;423;203;203	ENSP00000339527:L423M;ENSP00000385824:L423M;ENSP00000446316:L203M	ENSP00000339527:L423M	L	+	1	2	FOXO3	109091996	1.000000	0.71417	0.839000	0.33178	0.823000	0.46562	3.218000	0.51192	0.388000	0.25054	0.462000	0.41574	CTG		0.602	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			83	476	1	0	1.5608e-48	1	1.92705e-48	83	476				
GABRD	2563	broad.mit.edu	37	1	1961614	1961614	+	Missense_Mutation	SNP	C	C	T	rs200019257		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1961614C>T	ENST00000378585.4	+	9	1335	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	418					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCCGTGCCCGGCTCAGGCC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15348	0.0		0.001	False		,,,				2504	0.0					ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1252-1254)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, delta		C	TRP/ARG	1,4403		0,1,2201	59.0	59.0	59.0		1252	0.4	0.0	1		59	0,8598		0,0,4299	no	missense	GABRD	NM_000815.4	101	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	418/453	1961614	1,13001	2202	4299	6501	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961614C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1252C>T	1.37:g.1961614C>T	ENSP00000367848:p.Arg418Trp						p.R418W	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	9	1335	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	418					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.1252C>T	CCDS36.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.752	0.703535	0.15172	2.27E-4	0.0	ENSG00000187730	ENST00000378585	D	0.85088	-1.94	3.82	0.383	0.16239	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.159450	0.01848	N	0.035703	T	0.68622	0.3021	N	0.08118	0	0.09310	N	0.999999	P	0.46327	0.876	B	0.34452	0.183	T	0.66143	-0.5997	10	0.72032	D	0.01	-6.4253	6.0845	0.19960	0.4046:0.4988:0.0:0.0966	.	418	O14764	GBRD_HUMAN	W	418	ENSP00000367848:R418W	ENSP00000367848:R418W	R	+	1	2	GABRD	1951474	0.065000	0.20965	0.005000	0.12908	0.110000	0.19582	1.570000	0.36439	0.241000	0.21283	-0.325000	0.08501	CGG		0.662	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		50	513	0	0	0	1	0	50	513				
RNF157	114804	broad.mit.edu	37	17	74169858	74169858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169858G>A	ENST00000269391.6	-	3	353	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	74							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGAGGTGGGGCGGCGTAAGG	0.527																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(220-222)gCc>gTc		ring finger protein 157							48.0	42.0	44.0					17																	74169858		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74169858G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.221C>T	17.37:g.74169858G>A	ENSP00000269391:p.Ala74Val					RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	p.A74V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	353	-			74					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.221C>T	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264789	0.95399	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.23552	1.9;1.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.786	P;P	0.59115	0.852;0.621	T	0.10405	-1.0631	10	0.41790	T	0.15	-25.5121	18.3016	0.90165	0.0:0.0:1.0:0.0	.	74;74	Q96PX1-2;Q96PX1	.;RN157_HUMAN	V	74;74;36	ENSP00000269391:A74V;ENSP00000321837:A74V	ENSP00000269391:A74V	A	-	2	0	RNF157	71681453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.699000	0.98703	2.389000	0.81357	0.591000	0.81541	GCC		0.527	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		12	84	0	0	0	1	0	12	84				
IGKV4-1	28908	broad.mit.edu	37	2	89185616	89185616	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:89185616C>A	ENST00000390243.2	+	0	485							P06312	KV401_HUMAN	immunoglobulin kappa variable 4-1						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CATCAGCAGCCTGCAGGCTGA	0.532																																						ENST00000390243.2																			0																				44.0	43.0	43.0					2																	89185616		1928	4106	6034			0							g.chr2:89185616C>A	Z00023		2p11.2	2012-02-08			ENSG00000211598	ENSG00000211598		"""Immunoglobulins / IGK locus"""	5834	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV41, B3		P06312	OTTHUMG00000151533		2.37:g.89185616C>A														0	485	+									RNA	SNP	ENST00000390243.2	37																																																																																						0.532	IGKV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323037.2	NG_000834		21	270	1	0	4.35082e-09	1	4.56966e-09	21	270				
CADPS2	93664	broad.mit.edu	37	7	122091518	122091518	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122091518A>G	ENST00000449022.2	-	15	2217	c.2198T>C	c.(2197-2199)aTt>aCt	p.I733T	CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T|CADPS2_ENST00000334010.7_Missense_Mutation_p.I734T|CADPS2_ENST00000412584.2_Missense_Mutation_p.I730T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	733					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACAGTCCCAATTCCATCAGG	0.284																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2200-2202)aTt>aCt		Ca++-dependent secretion activator 2							33.0	32.0	33.0					7																	122091518		1786	4042	5828	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122091518A>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2198T>C	7.37:g.122091518A>G	ENSP00000398481:p.Ile733Thr					CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T|CADPS2_ENST00000412584.2_Missense_Mutation_p.I730T|CADPS2_ENST00000449022.2_Missense_Mutation_p.I733T	p.I734T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			14	2622	-			733					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2201T>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017449	0.54576	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.41	5.41	0.78517	.	0.057162	0.64402	D	0.000002	T	0.46229	0.1382	M	0.62723	1.935	0.51767	D	0.99993	P;P;P;P	0.44521	0.704;0.837;0.704;0.557	B;P;B;B	0.47044	0.139;0.535;0.139;0.107	T	0.50406	-0.8832	10	0.87932	D	0	-17.753	15.5048	0.75728	1.0:0.0:0.0:0.0	.	733;730;733;730	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.;.;CAPS2_HUMAN;.	T	730;734;734;697;730;733	ENSP00000325581:I730T;ENSP00000333940:I734T;ENSP00000400401:I730T;ENSP00000398481:I733T	ENSP00000325581:I730T	I	-	2	0	CADPS2	121878754	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.464000	0.73534	2.063000	0.61619	0.477000	0.44152	ATT		0.284	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		22	114	0	0	0	1	0	22	114				
ZNF638	27332	broad.mit.edu	37	2	71654323	71654323	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71654323T>G	ENST00000409544.1	+	24	5954	c.5324T>G	c.(5323-5325)gTt>gGt	p.V1775G	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1775					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTAATTTTGTTACTGTTGAT	0.368																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5323-5325)gTt>gGt		zinc finger protein 638							104.0	109.0	107.0					2																	71654323		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654323T>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5324T>G	2.37:g.71654323T>G	ENSP00000386433:p.Val1775Gly					ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G	p.V1775G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	5954	+			1775					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5324T>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821830	0.71028	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.50813	0.73;0.73;1.13	5.71	5.71	0.89125	.	0.000000	0.47093	D	0.000259	T	0.54464	0.1860	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.56962	-0.7892	10	0.49607	T	0.09	-14.1295	13.9308	0.63994	0.0:0.0:0.0:1.0	.	1775;1775	Q14966-3;Q14966	.;ZN638_HUMAN	G	1775;1775;715	ENSP00000264447:V1775G;ENSP00000386433:V1775G;ENSP00000386813:V715G	ENSP00000264447:V1775G	V	+	2	0	ZNF638	71507831	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.904000	0.69886	2.169000	0.68431	0.533000	0.62120	GTT		0.368	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		127	573	0	0	0	1	0	127	573				
EBAG9	9166	broad.mit.edu	37	8	110569174	110569174	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110569174A>T	ENST00000337573.5	+	5	632	c.332A>T	c.(331-333)aAg>aTg	p.K111M	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.K111M|EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	111					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATTGTTATTAAGAAGAGAGAA	0.313																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(331-333)aAg>aTg		estrogen receptor binding site associated, antigen, 9							70.0	66.0	67.0					8																	110569174		2202	4299	6501	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110569174A>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.332A>T	8.37:g.110569174A>T	ENSP00000337675:p.Lys111Met					EBAG9_ENST00000531677.1_Missense_Mutation_p.K111M|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M	p.K111M	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		5	632	+			111					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.332A>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422701	0.83559	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.69258	-0.5192	9	0.87932	D	0	-3.5603	15.4632	0.75377	1.0:0.0:0.0:0.0	.	111	O00559	RCAS1_HUMAN	M	111;14;111;111;111	.	ENSP00000337675:K111M	K	+	2	0	EBAG9	110638350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.618000	0.90932	2.307000	0.77673	0.528000	0.53228	AAG		0.313	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		12	107	0	0	0	1	0	12	107				
ZNF677	342926	broad.mit.edu	37	19	53747046	53747046	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53747046G>A	ENST00000598513.1	-	4	270	c.120C>T	c.(118-120)aaC>aaT	p.N40N	ZNF677_ENST00000601828.1_Silent_p.N40N|ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000333952.4_Silent_p.N40N|ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000601413.1_Silent_p.N40N|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTTCCTGTAGTTCTCCAACA	0.488																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(118-120)aaC>aaT		zinc finger protein 677							125.0	114.0	118.0					19																	53747046		2203	4300	6503	SO:0001819	synonymous_variant	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53747046G>A	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.120C>T	19.37:g.53747046G>A						ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000601828.1_Silent_p.N40N|ZNF677_ENST00000601413.1_Silent_p.N40N|ZNF677_ENST00000598513.1_Silent_p.N40N	p.N40N			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	4	285	-			40			KRAB.			Silent	SNP	ENST00000598513.1	37	c.120C>T	CCDS12861.1																																																																																				0.488	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		91	385	0	0	0	1	0	91	385				
TMEM131	23505	broad.mit.edu	37	2	98430750	98430750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98430750G>A	ENST00000186436.5	-	14	1622	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	465						integral component of membrane (GO:0016021)		p.A352V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATGAGGATCGCAAAACTGAA	0.408																																						ENST00000186436.5																			1	Substitution - Missense(1)	p.A352V(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1393-1395)gCg>gTg		transmembrane protein 131							105.0	100.0	102.0					2																	98430750		1893	4128	6021	SO:0001583	missense	23505					integral to membrane		g.chr2:98430750G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1394C>T	2.37:g.98430750G>A	ENSP00000186436:p.Ala465Val						p.A465V	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			14	1622	-			465						Missense_Mutation	SNP	ENST00000186436.5	37	c.1394C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097924	0.94197	.	.	ENSG00000075568	ENST00000186436	T	0.33216	1.42	5.31	5.31	0.75309	.	0.053675	0.64402	D	0.000001	T	0.42063	0.1186	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.32798	-0.9893	10	0.59425	D	0.04	-12.5872	19.3411	0.94342	0.0:0.0:1.0:0.0	.	465	Q92545	TM131_HUMAN	V	465	ENSP00000186436:A465V	ENSP00000186436:A465V	A	-	2	0	TMEM131	97797182	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.047000	0.93823	2.631000	0.89168	0.655000	0.94253	GCG		0.408	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		58	270	0	0	0	1	0	58	270				
NRAS	4893	broad.mit.edu	37	1	115252229	115252229	+	Silent	SNP	G	G	A	rs368813470		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115252229G>A	ENST00000369535.4	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	137					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGAATCCCGTAACTCTTGG	0.448		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4		50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		0				NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(409-411)taC>taT		neuroblastoma RAS viral (v-ras) oncogene homolog		G		1,4405	2.1+/-5.4	0,1,2202	229.0	177.0	194.0		411	-8.4	0.6	1		194	0,8600		0,0,4300	no	coding-synonymous	NRAS	NM_002524.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		137/190	115252229	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115252229G>A	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.411C>T	1.37:g.115252229G>A		TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Y137Y	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	664	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	137					Q14971|Q15104|Q15282	Silent	SNP	ENST00000369535.4	37	c.411C>T	CCDS877.1																																																																																				0.448	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		30	212	0	0	0	1	0	30	212				
LYG2	254773	broad.mit.edu	37	2	99858877	99858877	+	Missense_Mutation	SNP	C	C	T	rs368752128		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99858877C>T	ENST00000409238.1	-	5	609	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000333017.2_Missense_Mutation_p.V197I			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	197					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATATCATTGACGAAGTCATTG	0.463																																						ENST00000333017.2																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(589-591)Gtc>Atc		lysozyme G-like 2		C	ILE/VAL	0,4406		0,0,2203	148.0	140.0	143.0		589	1.1	0.0	2		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYG2	NM_175735.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	197/213	99858877	1,13005	2203	4300	6503	SO:0001583	missense	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99858877C>T	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.589G>A	2.37:g.99858877C>T	ENSP00000386939:p.Val197Ile					LYG2_ENST00000409238.1_Missense_Mutation_p.V197I	p.V197I	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN			6	701	-			197					Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.589G>A	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534530	0.27475	0.0	1.16E-4	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.22	1.12	0.20585	Lysozyme-like domain (1);	0.831283	0.10545	N	0.662243	T	0.35189	0.0923	M	0.68317	2.08	0.09310	N	1	B	0.21147	0.052	B	0.11329	0.006	T	0.31166	-0.9953	8	.	.	.	-11.8698	3.2272	0.06736	0.1853:0.513:0.0:0.3017	.	197	Q86SG7	LYG2_HUMAN	I	197	.	.	V	-	1	0	LYG2	99225309	0.039000	0.19947	0.001000	0.08648	0.521000	0.34408	0.511000	0.22739	0.353000	0.24079	0.563000	0.77884	GTC		0.463	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		126	612	0	0	0	1	0	126	612				
NTNG1	22854	broad.mit.edu	37	1	107973466	107973466	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107973466G>A	ENST00000370068.1	+	6	2028	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370072.3_Silent_p.Q394Q|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	394	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAGAGGGCAGCACTGTGAGT	0.443																																						ENST00000370068.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1180-1182)caG>caA		netrin G1							122.0	107.0	111.0					1																	107973466		1568	3582	5150	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107973466G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1182G>A	1.37:g.107973466G>A						NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370072.3_Silent_p.Q394Q|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron	p.Q394Q			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	2028	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	394			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.1182G>A	CCDS44180.1																																																																																				0.443	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		13	133	0	0	0	1	0	13	133				
MED14	9282	broad.mit.edu	37	X	40586068	40586068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40586068C>T	ENST00000324817.1	-	3	396	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	93					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGAGTTGGCGTGTCCGGCT	0.323																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(277-279)cGc>cAc		mediator complex subunit 14							50.0	46.0	48.0					X																	40586068		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40586068C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.278G>A	X.37:g.40586068C>T	ENSP00000323720:p.Arg93His						p.R93H	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			3	396	-			93					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.278G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573841	0.86542	.	.	ENSG00000180182	ENST00000324817	.	.	.	4.98	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77205	-0.2673	9	0.54805	T	0.06	.	12.429	0.55563	0.0:0.9145:0.0:0.0855	.	93	O60244	MED14_HUMAN	H	93	.	ENSP00000323720:R93H	R	-	2	0	MED14	40471012	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.314000	0.78988	0.993000	0.38866	-0.268000	0.10319	CGC		0.323	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		36	172	0	0	0	1	0	36	172				
ZFYVE26	23503	broad.mit.edu	37	14	68229501	68229501	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229501A>G	ENST00000347230.4	-	33	6185	c.6047T>C	c.(6046-6048)gTt>gCt	p.V2016A	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2016					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCAGCAGCAACTAAAATATT	0.488																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(6046-6048)gTt>gCt		zinc finger, FYVE domain containing 26							83.0	72.0	76.0					14																	68229501		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68229501A>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6047T>C	14.37:g.68229501A>G	ENSP00000251119:p.Val2016Ala					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	p.V2016A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	33	6185	-			2016					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.6047T>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	33	5.209454	0.95069	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.38722	1.28;1.12	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.60125	-0.7324	10	0.52906	T	0.07	-14.7705	15.8326	0.78769	1.0:0.0:0.0:0.0	.	2016;2016	G3V2D8;Q68DK2	.;ZFY26_HUMAN	A	2016;1995;2016	ENSP00000251119:V2016A;ENSP00000450603:V2016A	ENSP00000251119:V2016A	V	-	2	0	ZFYVE26	67299254	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.339000	0.96797	2.146000	0.66826	0.460000	0.39030	GTT		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		25	139	0	0	0	1	0	25	139				
RARRES3	5920	broad.mit.edu	37	11	63312262	63312262	+	Silent	SNP	G	G	A	rs200737005		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312262G>A	ENST00000255688.3	+	3	336	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RARRES3_ENST00000439013.2_Silent_p.A96A|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.A96A	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	96					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TCAGTTCTGCGAAGGAGATGG	0.527																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(286-288)gcG>gcA		retinoic acid receptor responder (tazarotene induced) 3							128.0	132.0	131.0					11																	63312262		2026	4195	6221	SO:0001819	synonymous_variant	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312262G>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.288G>A	11.37:g.63312262G>A						RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Silent_p.A96A|RARRES3_ENST00000354445.2_Silent_p.A96A	p.A96A			Q9UL19	TIG3_HUMAN			3	341	+			96					B2R599|B4DDW2|E7ENZ7|O95200	Silent	SNP	ENST00000255688.3	37	c.288G>A	CCDS41662.1																																																																																				0.527	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			100	480	0	0	0	1	0	100	480				
TMTC1	83857	broad.mit.edu	37	12	29659826	29659826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29659826G>A	ENST00000539277.1	-	18	2660	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.R760C|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTCTAGGCGATCCAATTTG	0.458																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2278-2280)Cgc>Tgc		transmembrane and tetratricopeptide repeat containing 1							260.0	254.0	256.0					12																	29659826		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29659826G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2602C>T	12.37:g.29659826G>A	ENSP00000442046:p.Arg868Cys					TMTC1_ENST00000539277.1_Missense_Mutation_p.R868C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000319685.8_5'UTR	p.R760C	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			18	2751	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		868					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.2278C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219115	0.79464	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69806	-0.43;-0.23;-0.43;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.86309	0.1685	10	0.66056	D	0.02	-14.4245	17.4952	0.87715	0.0:0.0:1.0:0.0	.	868;930;213	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	C	631;760;930;892;868	ENSP00000256062:R760C;ENSP00000448112:R930C;ENSP00000449043:R892C;ENSP00000442046:R868C	ENSP00000256062:R760C	R	-	1	0	TMTC1	29551093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.186000	0.65082	2.463000	0.83235	0.650000	0.86243	CGC		0.458	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		107	613	0	0	0	1	0	107	613				
RANBP2	5903	broad.mit.edu	37	2	109380402	109380402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109380402G>A	ENST00000283195.6	+	20	3533	c.3407G>A	c.(3406-3408)gGt>gAt	p.G1136D		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1136					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACTTTCCATGGTCCAGGGAAA	0.423																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3406-3408)gGt>gAt		RAN binding protein 2							84.0	85.0	85.0					2																	109380402		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380402G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3407G>A	2.37:g.109380402G>A	ENSP00000283195:p.Gly1136Asp						p.G1136D	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3533	+			1136					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.3407G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442717	0.25987	.	.	ENSG00000153201	ENST00000283195	T	0.28069	1.63	5.44	4.55	0.56014	.	.	.	.	.	T	0.24160	0.0585	L	0.38953	1.18	0.19775	N	0.999955	B	0.10296	0.003	B	0.08055	0.003	T	0.05131	-1.0904	9	0.48119	T	0.1	-13.12	8.3245	0.32149	0.1773:0.0:0.8227:0.0	.	1136	P49792	RBP2_HUMAN	D	1136	ENSP00000283195:G1136D	ENSP00000283195:G1136D	G	+	2	0	RANBP2	108746834	0.832000	0.29368	0.996000	0.52242	0.199000	0.23934	3.153000	0.50685	2.537000	0.85549	0.557000	0.71058	GGT		0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		116	560	0	0	0	1	0	116	560				
NRG1	3084	broad.mit.edu	37	8	32621451	32621451	+	Missense_Mutation	SNP	G	G	T	rs368973399		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621451G>T	ENST00000405005.3	+	12	1454	c.1454G>T	c.(1453-1455)aGg>aTg	p.R485M	NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M|NRG1_ENST00000338921.4_Missense_Mutation_p.R493M|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	485					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACACCACCAAGGCTGCGGGAG	0.577																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1477-1479)aGg>aTg		neuregulin 1		G	MET/ARG,,MET/ARG,MET/ARG,,MET/ARG,MET/ARG,,MET/ARG	0,4406		0,0,2203	139.0	108.0	119.0		1355,,1406,1304,,1469,1445,,1454	5.0	0.1	8		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,missense,missense,utr-3,missense,missense,utr-3,missense	NRG1	NM_001159995.1,NM_001159996.1,NM_001159999.1,NM_001160001.1,NM_001160004.1,NM_013956.3,NM_013957.3,NM_013960.3,NM_013964.3	91,,91,91,,91,91,,91	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging,probably-damaging,,probably-damaging,probably-damaging,,probably-damaging	452/608,,469/625,435/591,,490/646,482/638,,485/641	32621451	1,13005	2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621451G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1454G>T	8.37:g.32621451G>T	ENSP00000384620:p.Arg485Met					NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287840.5_Missense_Mutation_p.R485M|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M|NRG1_ENST00000405005.2_Missense_Mutation_p.R485M	p.R493M			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	1995	+		Breast(100;0.203)	485					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1478G>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	4.753	0.139932	0.09083	0.0	1.16E-4	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.88	5.01	0.66863	Neuregulin 1-related, C-terminal (1);	0.240552	0.40818	N	0.001001	T	0.70011	0.3175	L	0.47716	1.5	0.09310	N	0.999999	D;P;P;P;P;P;P	0.53462	0.96;0.81;0.744;0.547;0.699;0.899;0.699	P;P;P;B;P;P;P	0.62298	0.748;0.632;0.797;0.24;0.632;0.9;0.694	T	0.63024	-0.6729	10	0.46703	T	0.11	-17.5206	12.7104	0.57086	0.1356:0.0:0.8644:0.0	.	328;456;490;493;482;485;490	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	M	452;435;558;493;490;485;456;482;485;328	ENSP00000430053:R452M;ENSP00000429582:R435M;ENSP00000429067:R558M;ENSP00000343395:R493M;ENSP00000349275:R490M;ENSP00000287840:R485M;ENSP00000287845:R456M;ENSP00000287842:R482M;ENSP00000384620:R485M;ENSP00000439276:R328M	ENSP00000287840:R485M	R	+	2	0	NRG1	32740993	0.565000	0.26610	0.063000	0.19743	0.024000	0.10985	2.250000	0.43178	1.503000	0.48686	0.557000	0.71058	AGG		0.577	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			60	295	1	0	9.59835e-30	1	1.1228e-29	60	295				
SLC17A6	57084	broad.mit.edu	37	11	22363311	22363311	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22363311C>T	ENST00000263160.3	+	2	761	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	108					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.G108G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACCGCGGGGGCAAGGTCATCA	0.632																																						ENST00000263160.3																			1	Substitution - coding silent(1)	p.G108G(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(322-324)ggC>ggT		solute carrier family 17 (vesicular glutamate transporter), member 6							62.0	52.0	56.0					11																	22363311		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22363311C>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.324C>T	11.37:g.22363311C>T							p.G108G	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			2	761	+			108					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.324C>T	CCDS7856.1																																																																																				0.632	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		59	283	0	0	0	1	0	59	283				
SPTAN1	6709	broad.mit.edu	37	9	131365846	131365846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131365846G>A	ENST00000372731.4	+	28	3714	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1202M|SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1202M	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1202					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTTCACACCGTGGCCACCTT	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(3604-3606)Gtg>Atg		spectrin, alpha, non-erythrocytic 1							295.0	258.0	271.0					9																	131365846		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131365846G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3604G>A	9.37:g.131365846G>A	ENSP00000361816:p.Val1202Met					SPTAN1_ENST00000372731.4_Missense_Mutation_p.V1202M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1202M	p.V1202M			Q13813	SPTA2_HUMAN			28	3717	+			1202					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3604G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680519	0.68042	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.53206	0.63;0.63;0.65	5.83	5.83	0.93111	.	0.113273	0.64402	D	0.000009	T	0.36690	0.0976	N	0.08118	0	0.51767	D	0.999939	P;P;P;P	0.49696	0.898;0.927;0.927;0.88	B;P;P;B	0.44359	0.143;0.447;0.447;0.26	T	0.38802	-0.9644	10	0.52906	T	0.07	.	20.1271	0.97986	0.0:0.0:1.0:0.0	.	1202;1182;1202;1202	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	M	1202;1202;1202;1182	ENSP00000350882:V1202M;ENSP00000361816:V1202M;ENSP00000361824:V1202M	ENSP00000350882:V1202M	V	+	1	0	SPTAN1	130405667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.790000	0.75115	2.758000	0.94735	0.563000	0.77884	GTG		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		126	607	0	0	0	1	0	126	607				
CABIN1	23523	broad.mit.edu	37	22	24480696	24480696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24480696C>T	ENST00000398319.2	+	21	3460	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	CABIN1_ENST00000405822.2_Silent_p.S975S|CABIN1_ENST00000263119.5_Silent_p.S1025S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1025					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGCCCTTAGCCTGGACAAAG	0.552																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3073-3075)agC>agT		calcineurin binding protein 1							91.0	77.0	81.0					22																	24480696		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24480696C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3075C>T	22.37:g.24480696C>T						CABIN1_ENST00000263119.5_Silent_p.S1025S|CABIN1_ENST00000405822.2_Silent_p.S975S	p.S1025S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			21	3460	+			1025					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.3075C>T	CCDS13823.1																																																																																				0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		76	308	0	0	0	1	0	76	308				
RNF213	57674	broad.mit.edu	37	17	78348322	78348322	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78348322C>T	ENST00000582970.1	+	50	13150	c.13007C>T	c.(13006-13008)gCt>gTt	p.A4336V	RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4336					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAATACAAGGCTCTCCGTGAT	0.567																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13006-13008)gCt>gTt		ring finger protein 213							138.0	109.0	119.0					17																	78348322		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78348322C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13007C>T	17.37:g.78348322C>T	ENSP00000464087:p.Ala4336Val					CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V	p.A4336V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		50	13150	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13007C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116196	0.37339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23950	1.88	4.79	2.79	0.32731	.	0.191148	0.45867	D	0.000332	T	0.21962	0.0529	L	0.57130	1.785	0.24566	N	0.993947	P;B	0.35793	0.521;0.007	B;B	0.30105	0.111;0.006	T	0.10636	-1.0621	10	0.49607	T	0.09	.	9.6309	0.39778	0.0:0.8364:0.0:0.1636	.	4385;2409	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4336;4385;2409	ENSP00000338218:A2409V	ENSP00000338218:A2409V	A	+	2	0	RNF213	75962917	0.094000	0.21725	0.281000	0.24762	0.615000	0.37417	0.431000	0.21444	0.549000	0.28973	0.561000	0.74099	GCT		0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	336	0	0	0	1	0	12	336				
RHOV	171177	broad.mit.edu	37	15	41165267	41165267	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41165267A>C	ENST00000220507.4	-	3	849	c.700T>G	c.(700-702)Tgc>Ggc	p.C234G	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CAAACGAAGCAGAAGAACTTC	0.572																																					Pancreas(13;103 483 3593 12123 44457)	ENST00000220507.4																			0				central_nervous_system(1)|large_intestine(1)	2						c.(700-702)Tgc>Ggc		ras homolog family member V							66.0	72.0	70.0					15																	41165267		2203	4300	6503	SO:0001583	missense	171177				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding	g.chr15:41165267A>C	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.700T>G	15.37:g.41165267A>C	ENSP00000220507:p.Cys234Gly						p.C234G	NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	849	-		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	234						Missense_Mutation	SNP	ENST00000220507.4	37	c.700T>G	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092332	0.76756	.	.	ENSG00000104140	ENST00000220507	T	0.72942	-0.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85743	0.1338	10	0.72032	D	0.01	.	15.3612	0.74475	1.0:0.0:0.0:0.0	.	234	Q96L33	RHOV_HUMAN	G	234	ENSP00000220507:C234G	ENSP00000220507:C234G	C	-	1	0	RHOV	38952559	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.869000	0.92326	2.037000	0.60232	0.254000	0.18369	TGC		0.572	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1			52	429	0	0	0	1	0	52	429				
PDXK	8566	broad.mit.edu	37	21	45152453	45152453	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45152453G>A	ENST00000291565.4	+	2	270				PDXK_ENST00000327574.4_Silent_p.K65K|PDXK_ENST00000398081.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000468090.1_Intron	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase						cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACACCCAGAAGCAGTGGAGCA	0.398																																						ENST00000327574.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(193-195)aaG>aaA		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						177.0	180.0	179.0					21																	45152453		876	1991	2867	SO:0001627	intron_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45152453G>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.88-1497G>A	21.37:g.45152453G>A						PDXK_ENST00000291565.4_Intron|PDXK_ENST00000468090.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000398081.1_Intron	p.K65K			O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	2	545	+			0					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.195G>A	CCDS13699.1																																																																																				0.398	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		59	558	0	0	0	1	0	59	558				
MAPKBP1	23005	broad.mit.edu	37	15	42116688	42116688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116688C>T	ENST00000456763.2	+	31	4434	c.4238C>T	c.(4237-4239)gCg>gTg	p.A1413V	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A1407V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGAGCCAGCGGTGAGCCTG	0.642																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4219-4221)gCg>gTg		mitogen-activated protein kinase binding protein 1							36.0	33.0	34.0					15																	42116688		2199	4296	6495	SO:0001583	missense	23005							g.chr15:42116688C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4238C>T	15.37:g.42116688C>T	ENSP00000393099:p.Ala1413Val					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A1413V	p.A1407V	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	30	4506	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1413					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.4220C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.448093	0.26074	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.41400	1.18;1.34;1.0;1.22;1.3	5.06	-3.72	0.04411	.	0.774545	0.11970	N	0.511842	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	1	B;B;B;B;B;B	0.12013	0.0;0.003;0.0;0.0;0.005;0.004	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.003;0.004	T	0.12863	-1.0531	10	0.33940	T	0.23	-0.479	3.9825	0.09501	0.0955:0.373:0.1026:0.4289	.	1246;1288;1246;1130;1413;1407	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	V	1407;1290;1246;1413;1130	ENSP00000397570:A1407V;ENSP00000221214:A1290V;ENSP00000260357:A1246V;ENSP00000393099:A1413V;ENSP00000426154:A1130V	ENSP00000221214:A1290V	A	+	2	0	MAPKBP1	39903980	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.042000	0.12063	-0.616000	0.05671	-1.278000	0.01390	GCG		0.642	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		11	47	0	0	0	1	0	11	47				
ZCRB1	85437	broad.mit.edu	37	12	42706924	42706924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42706924C>T	ENST00000266529.3	-	8	782	c.599G>A	c.(598-600)cGc>cAc	p.R200H	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	200					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TATCCTTGGGCGTCTTGAATC	0.353																																						ENST00000266529.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8						c.(598-600)cGc>cAc		zinc finger CCHC-type and RNA binding motif 1							139.0	123.0	129.0					12																	42706924		2203	4300	6503	SO:0001583	missense	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42706924C>T	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.599G>A	12.37:g.42706924C>T	ENSP00000266529:p.Arg200His					ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H|PPHLN1_ENST00000549190.1_Intron	p.R200H	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	8	782	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)	200					Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	37	c.599G>A	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506193	0.85282	.	.	ENSG00000139168	ENST00000266529;ENST00000552673	T;T	0.51817	2.45;0.69	5.48	5.48	0.80851	.	0.098903	0.64402	D	0.000002	T	0.59569	0.2203	L	0.59436	1.845	0.47476	D	0.999437	D	0.71674	0.998	P	0.52710	0.707	T	0.63084	-0.6716	10	0.72032	D	0.01	-7.2678	19.3636	0.94453	0.0:1.0:0.0:0.0	.	200	Q8TBF4	ZCRB1_HUMAN	H	200;159	ENSP00000266529:R200H;ENSP00000446732:R159H	ENSP00000266529:R200H	R	-	2	0	ZCRB1	40993191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.128000	0.64733	2.573000	0.86826	0.655000	0.94253	CGC		0.353	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114		9	179	0	0	0	1	0	9	179				
ZNF480	147657	broad.mit.edu	37	19	52825103	52825103	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825103A>G	ENST00000595962.1	+	5	666	c.600A>G	c.(598-600)gaA>gaG	p.E200E	ZNF480_ENST00000335090.6_Silent_p.E123E|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.E157E|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACCTTAGAGAAAAACCTTATG	0.338																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(598-600)gaA>gaG		zinc finger protein 480							81.0	84.0	83.0					19																	52825103		2203	4300	6503	SO:0001819	synonymous_variant	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825103A>G	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.600A>G	19.37:g.52825103A>G						ZNF480_ENST00000335090.6_Silent_p.E123E|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.E157E	p.E200E	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	666	+			200					Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	37	c.600A>G	CCDS12850.2																																																																																				0.338	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		41	371	0	0	0	1	0	41	371				
IGHV3-30	28439	broad.mit.edu	37	14	106791307	106791307	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106791307C>T	ENST00000390613.2	-	0	128									immunoglobulin heavy variable 3-30																		TGACACTGGACACCTGCAAAC	0.517																																						ENST00000390613.2																			0																				25.0	38.0	34.0					14																	106791307		1709	3990	5699			0							g.chr14:106791307C>T	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791307C>T														0	128	-									RNA	SNP	ENST00000390613.2	37																																																																																						0.517	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		45	740	0	0	0	1	0	45	740				
SCAF4	57466	broad.mit.edu	37	21	33043863	33043863	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33043863C>T	ENST00000286835.7	-	20	3675	c.3293G>A	c.(3292-3294)aGc>aAc	p.S1098N	SCAF4_ENST00000399804.1_Missense_Mutation_p.S1076N|SCAF4_ENST00000434667.3_Missense_Mutation_p.S1083N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1098						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCCACTTGGCTAATGGGAGG	0.507																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3292-3294)aGc>aAc		SR-related CTD-associated factor 4							151.0	143.0	146.0					21																	33043863		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33043863C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3293G>A	21.37:g.33043863C>T	ENSP00000286835:p.Ser1098Asn					SCAF4_ENST00000434667.3_Missense_Mutation_p.S1083N|SCAF4_ENST00000399804.1_Missense_Mutation_p.S1076N	p.S1098N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3675	-			1098					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.3293G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170669	0.38315	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.23147	1.92;1.92;1.92	5.91	4.09	0.47781	.	0.249082	0.42172	N	0.000756	T	0.17023	0.0409	N	0.24115	0.695	0.33173	D	0.548566	P;B;B	0.35714	0.517;0.0;0.136	B;B;B	0.33454	0.164;0.002;0.124	T	0.17501	-1.0367	10	0.45353	T	0.12	-5.8717	11.6986	0.51558	0.0:0.8091:0.1245:0.0664	.	1083;1076;1098	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	N	1083;1098;1076	ENSP00000402377:S1083N;ENSP00000286835:S1098N;ENSP00000382703:S1076N	ENSP00000286835:S1098N	S	-	2	0	SCAF4	31965734	0.857000	0.29778	0.978000	0.43139	0.887000	0.51463	2.003000	0.40844	0.823000	0.34589	0.655000	0.94253	AGC		0.507	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		108	424	0	0	0	1	0	108	424				
SERPINF2	5345	broad.mit.edu	37	17	1657648	1657648	+	Silent	SNP	C	C	T	rs201846794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1657648C>T	ENST00000324015.3	+	10	1373	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	SERPINF2_ENST00000382061.4_Silent_p.S432S|SERPINF2_ENST00000450523.2_Silent_p.S368S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	432					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TCGTGGGCAGCGTGAGGAACC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15104	0.001		0.0	False		,,,				2504	0.0					ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)agC>agT		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						130.0	114.0	119.0					17																	1657648		2203	4300	6503	SO:0001819	synonymous_variant	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1657648C>T	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1296C>T	17.37:g.1657648C>T						SERPINF2_ENST00000450523.2_Silent_p.S368S|SERPINF2_ENST00000382061.4_Silent_p.S432S	p.S432S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1373	+			432					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Silent	SNP	ENST00000324015.3	37	c.1296C>T	CCDS11011.1																																																																																				0.622	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		128	624	0	0	0	1	0	128	624				
MIS18BP1	55320	broad.mit.edu	37	14	45716257	45716257	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45716257G>T	ENST00000310806.4	-	2	691	c.233C>A	c.(232-234)aCt>aAt	p.T78N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	78					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTTAGCATAGTTGATTGAAA	0.308																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(232-234)aCt>aAt		MIS18 binding protein 1							66.0	68.0	68.0					14																	45716257		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45716257G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.233C>A	14.37:g.45716257G>T	ENSP00000309790:p.Thr78Asn						p.T78N	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			2	691	-			78					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.233C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495596	0.44352	.	.	ENSG00000129534	ENST00000310806;ENST00000451174	T	0.32753	1.44	5.64	5.64	0.86602	.	0.145281	0.47455	D	0.000232	T	0.53302	0.1788	M	0.66939	2.045	0.37912	D	0.931412	D	0.89917	1.0	D	0.83275	0.996	T	0.53634	-0.8411	10	0.37606	T	0.19	-8.7125	15.2134	0.73244	0.0:0.0:1.0:0.0	.	78	Q6P0N0	M18BP_HUMAN	N	78	ENSP00000309790:T78N	ENSP00000309790:T78N	T	-	2	0	MIS18BP1	44786007	1.000000	0.71417	0.978000	0.43139	0.101000	0.19017	4.771000	0.62318	2.659000	0.90383	0.650000	0.86243	ACT		0.308	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			68	320	1	0	1.20466e-24	1	1.37865e-24	68	320				
SHISA3	152573	broad.mit.edu	37	4	42403101	42403101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403101C>T	ENST00000319234.4	+	2	568	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	117					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TCTGTAGTGGCTATTTATTGT	0.512																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(349-351)gCt>gTt		shisa family member 3							224.0	227.0	226.0					4																	42403101		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403101C>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.350C>T	4.37:g.42403101C>T	ENSP00000326445:p.Ala117Val						p.A117V	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	568	+			117					A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.350C>T	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451952	0.84209	.	.	ENSG00000178343	ENST00000319234	T	0.39997	1.05	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.67662	-0.5613	10	0.52906	T	0.07	-5.562	17.9622	0.89089	0.0:1.0:0.0:0.0	.	117	A0PJX4	SHSA3_HUMAN	V	117	ENSP00000326445:A117V	ENSP00000326445:A117V	A	+	2	0	SHISA3	42097858	1.000000	0.71417	0.958000	0.39756	0.399000	0.30720	7.651000	0.83577	2.582000	0.87167	0.655000	0.94253	GCT		0.512	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		296	1177	0	0	0	1	0	296	1177				
VARS	7407	broad.mit.edu	37	6	31749699	31749699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749699G>A	ENST00000375663.3	-	19	2712	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	758					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCATTGCGTCCACTCACC	0.637																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2272-2274)Cgc>Tgc		valyl-tRNA synthetase	L-Valine(DB00161)						126.0	144.0	138.0					6																	31749699		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749699G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2272C>T	6.37:g.31749699G>A	ENSP00000364815:p.Arg758Cys					VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	p.R758C	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			19	2712	-			758					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.2272C>T	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.40|12.40	1.928076|1.928076	0.34002|0.34002	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	T|.	0.22743|.	1.94|.	5.51|5.51	4.62|4.62	0.57501|0.57501	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.162696|.	0.52532|.	D|.	0.000074|.	D|D	0.82527|0.82527	0.5056|0.5056	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.87826|0.87826	0.2641|0.2641	10|5	0.87932|.	D|.	0|.	-15.5475|-15.5475	13.9063|13.9063	0.63839|0.63839	0.0:0.1538:0.8462:0.0|0.0:0.1538:0.8462:0.0	.|.	758|.	P26640|.	SYVC_HUMAN|.	C|M	758|75	ENSP00000364815:R758C|.	ENSP00000364815:R758C|.	R|T	-|-	1|2	0|0	VARS|VARS	31857678|31857678	0.973000|0.973000	0.33851|0.33851	0.998000|0.998000	0.56505|0.56505	0.703000|0.703000	0.40648|0.40648	1.445000|1.445000	0.35079|0.35079	1.290000|1.290000	0.44636|0.44636	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.637	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		185	871	0	0	0	1	0	185	871				
INTS1	26173	broad.mit.edu	37	7	1525106	1525106	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525106C>A	ENST00000404767.3	-	23	3062		c.e23-1		INTS1_ENST00000389470.4_Missense_Mutation_p.Q1154H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGACAAACCCTGTGGCAGAC	0.672																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(3460-3462)caG>caT		integrator complex subunit 1							23.0	30.0	28.0					7																	1525106		2052	4182	6234	SO:0001630	splice_region_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1525106C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2977-1G>T	7.37:g.1525106C>A						INTS1_ENST00000404767.3_Splice_Site	p.Q1154H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	24	3461	-		Ovarian(82;0.0253)	992					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3462G>T	CCDS47526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.13|13.13	2.143877|2.143877	0.37825|0.37825	.|.	.|.	ENSG00000164880|ENSG00000164880	ENST00000404767|ENST00000389470	.|T	.|0.46451	.|0.87	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57446	.|0.2054	.|.	.|.	.|.	0.37569|0.37569	D|D	0.919357|0.919357	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60944	.|-0.7162	.|5	.|.	.|.	.|.	.|.	18.3337|18.3337	0.90280|0.90280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|1154	.|ENSP00000374121:Q1154H	.|.	.|Q	-|-	.|3	.|2	INTS1|INTS1	1491632|1491632	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.059000|0.059000	0.15707|0.15707	7.268000|7.268000	0.78473|0.78473	2.334000|2.334000	0.79466|0.79466	0.561000|0.561000	0.74099|0.74099	.|CAG		0.672	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		Intron	27	141	1	0	3.6726e-16	1	4.02855e-16	27	141				
CDH23	64072	broad.mit.edu	37	10	73569753	73569753	+	Missense_Mutation	SNP	C	C	T	rs373602652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73569753C>T	ENST00000224721.6	+	60	8919	c.8914C>T	c.(8914-8916)Cgt>Tgt	p.R2972C	CDH23_ENST00000398788.3_Missense_Mutation_p.R727C|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2967	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GATCCCCGACCGTGTGCGCGG	0.602																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(8914-8916)Cgt>Tgt		cadherin-related 23							95.0	95.0	95.0					10																	73569753		2119	4210	6329	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73569753C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8914C>T	10.37:g.73569753C>T	ENSP00000224721:p.Arg2972Cys					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R727C	p.R2972C	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			60	8919	+			2967			Cadherin 27.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8914C>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.670997	0.47781	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.57752	0.38	5.82	4.91	0.64330	Cadherin (1);	0.287586	0.27725	N	0.018109	T	0.37348	0.1000	L	0.36672	1.1	0.54753	D	0.999987	D;D	0.58620	0.983;0.978	B;B	0.39027	0.288;0.226	T	0.32851	-0.9891	10	0.62326	D	0.03	.	7.2417	0.26100	0.288:0.6299:0.0:0.0821	.	2967;2967	E9PEX1;Q9H251	.;CAD23_HUMAN	C	2972;2967;2970;727	ENSP00000381768:R727C	ENSP00000224721:R2972C	R	+	1	0	CDH23	73239759	0.993000	0.37304	0.995000	0.50966	0.693000	0.40251	1.256000	0.32921	2.759000	0.94783	0.549000	0.68633	CGT		0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		96	420	0	0	0	1	0	96	420				
BPTF	2186	broad.mit.edu	37	17	65924474	65924474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65924474C>T	ENST00000321892.4	+	18	6194	c.6133C>T	c.(6133-6135)Cga>Tga	p.R2045*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1919*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2045					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTAGAAACGACTGGAGCA	0.418																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(6133-6135)Cga>Tga		bromodomain PHD finger transcription factor							46.0	43.0	44.0					17																	65924474		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65924474C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6133C>T	17.37:g.65924474C>T	ENSP00000315454:p.Arg2045*					BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1919*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*	p.R2045*			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		18	6194	+	all_cancers(12;6e-11)		2045					Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.6133C>T		.	.	.	.	.	.	.	.	.	.	C	44	10.770991	0.99464	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3055	20.4024	0.99000	0.0:1.0:0.0:0.0	.	.	.	.	X	1919;2045;2045	.	ENSP00000307208:R1919X	R	+	1	2	BPTF	63354936	1.000000	0.71417	0.998000	0.56505	0.147000	0.21601	7.412000	0.80091	2.827000	0.97445	0.650000	0.86243	CGA		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		32	176	0	0	0	1	0	32	176				
E4F1	1877	broad.mit.edu	37	16	2279622	2279622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2279622G>A	ENST00000301727.4	+	3	409	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	E4F1_ENST00000565090.1_Missense_Mutation_p.V121M|E4F1_ENST00000564139.1_Missense_Mutation_p.V121M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	121					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V121L(1)		ovary(1)	1						GGCCCACATCGTGGTGGAGGC	0.592																																						ENST00000301727.4																			1	Substitution - Missense(1)	p.V121L(1)	lung(1)	ovary(1)	1						c.(361-363)Gtg>Atg		E4F transcription factor 1							100.0	105.0	104.0					16																	2279622		2198	4300	6498	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2279622G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.361G>A	16.37:g.2279622G>A	ENSP00000301727:p.Val121Met					E4F1_ENST00000565090.1_Missense_Mutation_p.V121M|E4F1_ENST00000564139.1_Missense_Mutation_p.V121M	p.V121M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			3	409	+			121					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.361G>A	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928132	0.52759	.	.	ENSG00000167967	ENST00000301727	T	0.07800	3.16	4.62	3.65	0.41850	.	0.423937	0.25909	N	0.027514	T	0.07908	0.0198	L	0.53249	1.67	0.33903	D	0.638749	P;B;B	0.36315	0.547;0.338;0.174	B;B;B	0.23574	0.047;0.023;0.022	T	0.16394	-1.0404	10	0.72032	D	0.01	-20.7327	10.1734	0.42924	0.0945:0.0:0.9055:0.0	.	117;121;121	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	M	121	ENSP00000301727:V121M	ENSP00000301727:V121M	V	+	1	0	E4F1	2219623	1.000000	0.71417	0.980000	0.43619	0.874000	0.50279	4.736000	0.62059	1.154000	0.42482	0.561000	0.74099	GTG		0.592	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		220	792	0	0	0	1	0	220	792				
SHANK1	50944	broad.mit.edu	37	19	51220126	51220126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51220126G>A	ENST00000293441.1	-	1	69	c.51C>T	c.(49-51)agC>agT	p.S17S	SHANK1_ENST00000359082.3_Silent_p.S17S|SHANK1_ENST00000391814.1_Silent_p.S17S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	17					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGGACACTCGCTGGCACTGT	0.736																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(49-51)agC>agT		SH3 and multiple ankyrin repeat domains 1							13.0	14.0	13.0					19																	51220126		2185	4267	6452	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51220126G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.51C>T	19.37:g.51220126G>A						SHANK1_ENST00000391814.1_Silent_p.S17S|SHANK1_ENST00000359082.3_Silent_p.S17S	p.S17S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	69	-		all_neural(266;0.057)	17					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.51C>T	CCDS12799.1																																																																																				0.736	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		26	60	0	0	0	1	0	26	60				
LMBRD2	92255	broad.mit.edu	37	5	36122989	36122989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36122989G>A	ENST00000296603.4	-	8	1359	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTGGATAGATACTATGCT	0.269																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(895-897)atC>atT		LMBR1 domain containing 2							70.0	75.0	73.0					5																	36122989		2201	4288	6489	SO:0001819	synonymous_variant	92255					integral to membrane		g.chr5:36122989G>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.897C>T	5.37:g.36122989G>A							p.I299I	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	1359	-	all_lung(31;0.000146)		299					B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	37	c.897C>T	CCDS34145.1																																																																																				0.269	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		23	282	0	0	0	1	0	23	282				
PER2	8864	broad.mit.edu	37	2	239180010	239180010	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239180010A>G	ENST00000254657.3	-	6	994	c.715T>C	c.(715-717)Ttc>Ctc	p.F239L	PER2_ENST00000355768.2_Missense_Mutation_p.F239L|PER2_ENST00000254658.3_Missense_Mutation_p.F239L|PER2_ENST00000440245.1_Missense_Mutation_p.F239L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	239	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAACTGTGGAACACGCCCACA	0.537																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(715-717)Ttc>Ctc		period circadian clock 2							144.0	126.0	132.0					2																	239180010		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239180010A>G	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.715T>C	2.37:g.239180010A>G	ENSP00000254657:p.Phe239Leu					PER2_ENST00000355768.2_Missense_Mutation_p.F239L|PER2_ENST00000440245.1_Missense_Mutation_p.F239L|PER2_ENST00000254658.3_Missense_Mutation_p.F239L	p.F239L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	6	994	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	239			PAS 1.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.715T>C	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987642	0.74589	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.58210	2.42;0.35;1.66;0.35	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;0.982;1.0;0.999	D;D;D;D	0.91635	0.997;0.952;0.999;0.998	T	0.77520	-0.2557	10	0.52906	T	0.07	-35.2439	13.0997	0.59212	1.0:0.0:0.0:0.0	.	239;239;239;239	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	L	239	ENSP00000254657:F239L;ENSP00000254658:F239L;ENSP00000397516:F239L;ENSP00000348013:F239L	ENSP00000254657:F239L	F	-	1	0	PER2	238844749	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	8.995000	0.93534	2.043000	0.60533	0.533000	0.62120	TTC		0.537	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		127	477	0	0	0	1	0	127	477				
BDP1	55814	broad.mit.edu	37	5	70793140	70793140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70793140C>T	ENST00000358731.4	+	13	2106	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	615					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTTGAGAGGTCGCTTCCAAAG	0.358																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1843-1845)Cgc>Tgc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							86.0	81.0	83.0					5																	70793140		1829	4084	5913	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70793140C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1843C>T	5.37:g.70793140C>T	ENSP00000351575:p.Arg615Cys					BDP1_ENST00000380675.2_5'UTR	p.R615C	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	13	2106	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	615					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1843C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517347	0.13005	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.11385	2.78	5.05	4.18	0.49190	.	0.695259	0.14689	N	0.304260	T	0.12433	0.0302	L	0.54323	1.7	0.80722	D	1	B;B;B	0.18610	0.029;0.015;0.009	B;B;B	0.15052	0.012;0.006;0.009	T	0.02844	-1.1103	10	0.51188	T	0.08	.	10.0523	0.42223	0.0:0.9053:0.0:0.0947	.	615;615;615	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	C	615;615;195;615	ENSP00000351575:R615C	ENSP00000351575:R615C	R	+	1	0	BDP1	70828896	0.997000	0.39634	0.928000	0.36995	0.031000	0.12232	2.288000	0.43514	1.270000	0.44297	-0.189000	0.12847	CGC		0.358	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		70	301	0	0	0	1	0	70	301				
PCNXL2	80003	broad.mit.edu	37	1	233192981	233192981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233192981G>A	ENST00000258229.9	-	24	4366	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1378						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCTTACCTGGATCTCTTTCA	0.393																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4132-4134)Cca>Tca		pecanex-like 2 (Drosophila)							103.0	96.0	99.0					1																	233192981		1840	4085	5925	SO:0001583	missense	80003					integral to membrane		g.chr1:233192981G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4132C>T	1.37:g.233192981G>A	ENSP00000258229:p.Pro1378Ser					PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	p.P1378S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			24	4366	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1378					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4132C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143950	0.37825	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24723	1.84;2.89	5.8	3.9	0.45041	.	0.329396	0.36519	N	0.002548	T	0.22781	0.0550	L	0.46885	1.475	0.80722	D	1	B;B	0.13145	0.003;0.007	B;B	0.14023	0.009;0.01	T	0.03148	-1.1067	10	0.45353	T	0.12	.	10.3576	0.43974	0.0755:0.4085:0.516:0.0	.	1378;30	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	30;1378	ENSP00000340759:P30S;ENSP00000258229:P1378S	ENSP00000258229:P1378S	P	-	1	0	PCNXL2	231259604	0.974000	0.33945	0.999000	0.59377	0.989000	0.77384	0.916000	0.28651	0.769000	0.33313	0.655000	0.94253	CCA		0.393	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		15	53	0	0	0	1	0	15	53				
KCNA6	3742	broad.mit.edu	37	12	4919450	4919450	+	Missense_Mutation	SNP	G	G	T	rs546055797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4919450G>T	ENST00000280684.3	+	1	1109	c.243G>T	c.(241-243)agG>agT	p.R81S	KCNA6_ENST00000433855.1_Missense_Mutation_p.R81S|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	81					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ACCCCCTGAGGAACGAGTACT	0.657										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(241-243)agG>agT		potassium voltage-gated channel, shaker-related subfamily, member 6							52.0	54.0	53.0					12																	4919450		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919450G>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.243G>T	12.37:g.4919450G>T	ENSP00000280684:p.Arg81Ser	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.R81S	p.R81S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1109	+			81						Missense_Mutation	SNP	ENST00000280684.3	37	c.243G>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487902	0.64074	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.75938	-0.98;-0.98	4.57	-3.05	0.05396	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.276440	0.30704	N	0.009042	T	0.80065	0.4555	M	0.67953	2.075	0.47994	D	0.999565	D	0.76494	0.999	D	0.78314	0.991	T	0.77953	-0.2394	10	0.59425	D	0.04	.	9.907	0.41381	0.1623:0.5184:0.3193:0.0	.	81	P17658	KCNA6_HUMAN	S	81	ENSP00000408321:R81S;ENSP00000280684:R81S	ENSP00000280684:R81S	R	+	3	2	KCNA6	4789711	0.994000	0.37717	0.558000	0.28319	0.993000	0.82548	0.182000	0.16900	-0.390000	0.07774	0.462000	0.41574	AGG		0.657	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		85	422	1	0	3.05217e-42	1	3.71447e-42	85	422				
PRDM10	56980	broad.mit.edu	37	11	129784704	129784704	+	Silent	SNP	C	C	T	rs147190509	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129784704C>T	ENST00000360871.3	-	17	2967	c.2736G>A	c.(2734-2736)acG>acA	p.T912T	PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000423662.2_Silent_p.T830T|PRDM10_ENST00000358825.5_Silent_p.T916T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	916	Thr-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCCCTTGTGGCGTTCGGTAGT	0.557													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0					ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2746-2748)acG>acA		PR domain containing 10		C	,,,	8,4394	14.3+/-33.2	0,8,2193	327.0	287.0	301.0		2748,2736,2490,2478	-6.3	0.0	11	dbSNP_134	301	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,8,6490	TT,TC,CC		0.0,0.1817,0.0616	,,,	916/1161,912/1157,830/1062,826/1024	129784704	8,12988	2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784704C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2736G>A	11.37:g.129784704C>T						PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000360871.3_Silent_p.T912T|PRDM10_ENST00000423662.2_Silent_p.T830T	p.T916T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	18	2979	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	916			Thr-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.2748G>A	CCDS8484.1																																																																																				0.557	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		206	1062	0	0	0	1	0	206	1062				
FAM160B2	64760	broad.mit.edu	37	8	21955759	21955759	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21955759C>A	ENST00000289921.7	+	6	752	c.706C>A	c.(706-708)Ctg>Atg	p.L236M		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	236										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCGAGGAGCTGGACGGTGG	0.652																																						ENST00000289921.7																			0				endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						c.(706-708)Ctg>Atg		family with sequence similarity 160, member B2							36.0	43.0	41.0					8																	21955759		2049	4191	6240	SO:0001583	missense	64760							g.chr8:21955759C>A	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.706C>A	8.37:g.21955759C>A	ENSP00000289921:p.Leu236Met						p.L236M	NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN			6	752	+			236					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.706C>A	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	13.92	2.380408	0.42207	.	.	ENSG00000158863	ENST00000289921	T	0.30182	1.54	5.07	4.17	0.49024	.	0.628857	0.16973	N	0.192038	T	0.30885	0.0779	N	0.22421	0.69	0.22389	N	0.999147	P	0.34892	0.474	P	0.46419	0.516	T	0.25710	-1.0124	10	0.49607	T	0.09	-2.3581	10.7464	0.46183	0.1901:0.8099:0.0:0.0	.	236	Q86V87	F16B2_HUMAN	M	236	ENSP00000289921:L236M	ENSP00000289921:L236M	L	+	1	2	FAM160B2	22011705	0.891000	0.30450	0.272000	0.24630	0.018000	0.09664	1.361000	0.34136	1.089000	0.41292	0.561000	0.74099	CTG		0.652	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			14	61	1	0	0.00185496	1	0.00187281	14	61				
POTEH	23784	broad.mit.edu	37	22	16287519	16287519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:16287519G>T	ENST00000343518.6	-	1	418	c.367C>A	c.(367-369)Cac>Aac	p.H123N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	123								p.H123D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GAGTCGTCGTGGTCTCCAGAA	0.602																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.H123D(1)	lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(367-369)Cac>Aac		POTE ankyrin domain family, member H							80.0	92.0	88.0					22																	16287519		2048	3880	5928	SO:0001583	missense	23784							g.chr22:16287519G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.367C>A	22.37:g.16287519G>T	ENSP00000340610:p.His123Asn						p.H123N	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	418	-			123					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.367C>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	5.629	0.300766	0.10678	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.26957	1.7	.	.	.	.	.	.	.	.	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	P	0.35328	0.495	B	0.27608	0.081	T	0.16482	-1.0401	7	0.42905	T	0.14	.	.	.	.	.	123	Q6S545	POTEH_HUMAN	N	86;123;123	ENSP00000340610:H123N	ENSP00000340610:H123N	H	-	1	0	POTEH	14667519	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-1.783000	0.01770	0.269000	0.21961	0.274000	0.19336	CAC		0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		240	1009	1	0	2.83873e-70	1	3.60561e-70	240	1009				
ABCA7	10347	broad.mit.edu	37	19	1046403	1046403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046403C>T	ENST00000263094.6	+	13	1851	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Silent_p.D402D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	540					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGGACGACGTGTGAGCTC	0.701																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1618-1620)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 7							114.0	116.0	116.0					19																	1046403		2202	4297	6499	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046403C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1620C>T	19.37:g.1046403C>T						ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000435683.2_Silent_p.D402D	p.D540D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1851	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	540					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.1620C>T	CCDS12055.1																																																																																				0.701	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		127	1415	0	0	0	1	0	127	1415				
PER3	8863	broad.mit.edu	37	1	7863170	7863170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7863170G>A	ENST00000361923.2	+	8	1108	c.933G>A	c.(931-933)ctG>ctA	p.L311L	PER3_ENST00000377541.1_Silent_p.L311L|PER3_ENST00000377532.3_Silent_p.L312L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	311	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGCTACCTGCACCCTGAAG	0.443																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(934-936)ctG>ctA		period circadian clock 3							187.0	164.0	172.0					1																	7863170		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7863170G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.933G>A	1.37:g.7863170G>A						PER3_ENST00000377541.1_Silent_p.L311L|PER3_ENST00000361923.2_Silent_p.L311L	p.L312L			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	8	1160	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	311			PAS 2.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.936G>A	CCDS89.1																																																																																				0.443	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		33	259	0	0	0	1	0	33	259				
CYP2J2	1573	broad.mit.edu	37	1	60392254	60392254	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60392254G>A	ENST00000371204.3	-	1	208	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	55					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CAAGGAAGAAGTTGCCAAGGA	0.592																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(163-165)aaC>aaT		cytochrome P450, family 2, subfamily J, polypeptide 2							64.0	70.0	68.0					1																	60392254		2203	4300	6503	SO:0001819	synonymous_variant	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60392254G>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.165C>T	1.37:g.60392254G>A							p.N55N	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			1	208	-	all_cancers(7;0.000396)		55					B2RD33|Q8TF13	Silent	SNP	ENST00000371204.3	37	c.165C>T	CCDS613.1																																																																																				0.592	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		19	483	0	0	0	1	0	19	483				
TTN	7273	broad.mit.edu	37	2	179466617	179466617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179466617C>T	ENST00000591111.1	-	235	50595	c.50371G>A	c.(50371-50373)Gat>Aat	p.D16791N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D18432N|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16791	Ig-like 101.				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)			aCCTGTGCATCTTCGGGTATG	0.308																																						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.(55294-55296)Gat>Aat		titin							73.0	67.0	68.0					2																	179466617		1803	4075	5878	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466617C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50371G>A	2.37:g.179466617C>T	ENSP00000465570:p.Asp16791Asn					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16791N	p.D18432N	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)		285	55518	-			16791					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.55294G>A		.	.	.	.	.	.	.	.	.	.	C	11.16	1.557858	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69242	0.3089	M	0.63843	1.955	0.44247	D	0.997092	B;B;B;B	0.21606	0.026;0.026;0.026;0.058	B;B;B;B	0.24394	0.053;0.053;0.053;0.043	T	0.65290	-0.6204	9	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	9367;9492;9559;16791	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	15864;9367;9559;9492;9367	ENSP00000343764:D15864N;ENSP00000434586:D9367N;ENSP00000340554:D9559N;ENSP00000352154:D9492N	ENSP00000340554:D9559N	D	-	1	0	TTN	179174862	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.015000	0.57152	2.885000	0.99019	0.655000	0.94253	GAT		0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	265	0	0	0	1	0	43	265				
PLOD2	5352	broad.mit.edu	37	3	145803071	145803071	+	Intron	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145803071A>C	ENST00000360060.3	-	11	1305				PLOD2_ENST00000282903.5_Intron|PLOD2_ENST00000461497.1_Missense_Mutation_p.F33V|PLOD2_ENST00000494950.1_Intron|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2						cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTAACAGTGAAAAAGAAAATG	0.294																																						ENST00000461497.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(97-99)Ttc>Gtc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Vitamin C(DB00126)						45.0	45.0	45.0					3																	145803071		2201	4298	6499	SO:0001627	intron_variant	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145803071A>C	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1128-11T>G	3.37:g.145803071A>C						RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Intron|PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000282903.5_Intron	p.F33V			O00469	PLOD2_HUMAN			1	605	-			0					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.97T>G	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	A	7.585	0.669571	0.14776	.	.	ENSG00000152952	ENST00000461497	D	0.89617	-2.54	5.59	-0.33	0.12683	.	.	.	.	.	T	0.78207	0.4247	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61869	-0.6974	8	0.21540	T	0.41	.	6.4656	0.21980	0.4409:0.3824:0.1766:0.0	.	33	B3KWS3	.	V	33	ENSP00000419354:F33V	ENSP00000419354:F33V	F	-	1	0	PLOD2	147285761	1.000000	0.71417	0.023000	0.16930	0.003000	0.03518	1.203000	0.32284	0.020000	0.15106	-0.408000	0.06270	TTC		0.294	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		34	145	0	0	0	1	0	34	145				
SRGAP1	57522	broad.mit.edu	37	12	64536230	64536230	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536230G>A	ENST00000355086.3	+	22	3560	c.3036G>A	c.(3034-3036)ttG>ttA	p.L1012L	SRGAP1_ENST00000543397.1_Silent_p.L949L|SRGAP1_ENST00000357825.3_Silent_p.L989L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1012					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCAGCCCTTTGCACAACGTTG	0.552																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3034-3036)ttG>ttA		SLIT-ROBO Rho GTPase activating protein 1							134.0	102.0	113.0					12																	64536230		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64536230G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3036G>A	12.37:g.64536230G>A						SRGAP1_ENST00000357825.3_Silent_p.L989L|SRGAP1_ENST00000543397.1_Silent_p.L949L	p.L1012L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3560	+			1012					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.3036G>A	CCDS8967.1																																																																																				0.552	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			61	293	0	0	0	1	0	61	293				
GABRB3	2562	broad.mit.edu	37	15	27017577	27017577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27017577C>A	ENST00000311550.5	-	3	323	c.212G>T	c.(211-213)aGc>aTc	p.S71I	GABRB3_ENST00000541819.2_Missense_Mutation_p.S127I|GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I|GABRB3_ENST00000557641.1_5'UTR	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	71					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATGTCGATGCTGGCGATGTC	0.692																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(379-381)aGc>aTc		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						41.0	35.0	37.0					15																	27017577		2198	4299	6497	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:27017577C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.212G>T	15.37:g.27017577C>A	ENSP00000308725:p.Ser71Ile					GABRB3_ENST00000311550.5_Missense_Mutation_p.S71I|GABRB3_ENST00000557641.1_5'UTR|GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I	p.S127I			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	4	482	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	71					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.380G>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934442	0.73442	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267	T;T;T	0.80738	-1.41;-1.41;-1.41	4.57	4.57	0.56435	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091921	0.85682	D	0.000000	D	0.92977	0.7765	H	0.97240	3.965	0.80722	D	1	D;P;D	0.65815	0.995;0.917;0.993	D;P;D	0.67900	0.917;0.813;0.954	D	0.95584	0.8649	10	0.87932	D	0	.	15.9295	0.79648	0.0:1.0:0.0:0.0	.	127;71;71	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	71;127;71	ENSP00000308725:S71I;ENSP00000442408:S127I;ENSP00000299267:S71I	ENSP00000299267:S71I	S	-	2	0	GABRB3	24568670	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.560000	0.73950	2.063000	0.61619	0.313000	0.20887	AGC		0.692	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			16	70	1	0	0.000175454	1	0.000178157	16	70				
RIMBP3	85376	broad.mit.edu	37	22	20459530	20459530	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20459530G>A	ENST00000426804.1	-	1	2256	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	591										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CGCCGGGGCCGCCTGCGCGCC	0.746																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1771-1773)gCg>gTg		RIMS binding protein 3							6.0	7.0	7.0					22																	20459530		1771	3739	5510	SO:0001583	missense	85376							g.chr22:20459530G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1772C>T	22.37:g.20459530G>A	ENSP00000391564:p.Ala591Val						p.A591V	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	2256	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.1772C>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810155	0.16537	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.14893	2.47	2.69	1.65	0.23941	.	0.207420	0.31673	N	0.007255	T	0.10465	0.0256	L	0.34521	1.04	0.22811	N	0.998706	B	0.14805	0.011	B	0.12156	0.007	T	0.19943	-1.0290	10	0.33940	T	0.23	-5.7485	4.7487	0.13050	0.3027:0.0:0.6973:0.0	.	497	Q9UFD9	RIM3A_HUMAN	V	497;591	ENSP00000391564:A591V	ENSP00000347318:A497V	A	-	2	0	RIMBP3	18839530	0.300000	0.24435	0.269000	0.24586	0.131000	0.20780	0.557000	0.23454	0.691000	0.31592	0.184000	0.17185	GCG		0.746	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		8	61	0	0	0	1	0	8	61				
DDX56	54606	broad.mit.edu	37	7	44611245	44611245	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44611245G>T	ENST00000258772.5	-	6	842	c.736C>A	c.(736-738)Ctc>Atc	p.L246I	DDX56_ENST00000431640.1_Missense_Mutation_p.L246I|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	246	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACAGCAGGAGGAATTTGTCT	0.527																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(736-738)Ctc>Atc		DEAD (Asp-Glu-Ala-Asp) box helicase 56							92.0	79.0	84.0					7																	44611245		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611245G>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.736C>A	7.37:g.44611245G>T	ENSP00000258772:p.Leu246Ile					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.L246I	p.L246I	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			6	842	-			246			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.736C>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	19.73	3.881624	0.72294	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.04234	3.67;3.75	5.82	2.03	0.26663	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.68593	2.085	0.45899	D	0.998748	P;D	0.69078	0.822;0.997	P;P	0.61201	0.495;0.885	T	0.12426	-1.0548	10	0.20519	T	0.43	-17.2289	8.7838	0.34807	0.313:0.0:0.687:0.0	.	246;246	C9JV95;Q9NY93	.;DDX56_HUMAN	I	246	ENSP00000258772:L246I;ENSP00000393488:L246I	ENSP00000258772:L246I	L	-	1	0	DDX56	44577770	1.000000	0.71417	0.061000	0.19648	0.825000	0.46686	4.194000	0.58393	0.096000	0.17463	-0.251000	0.11542	CTC		0.527	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		55	277	1	0	7.36392e-32	1	8.68075e-32	55	277				
CHL1	10752	broad.mit.edu	37	3	433368	433368	+	Silent	SNP	G	G	A	rs140090602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:433368G>A	ENST00000256509.2	+	23	3444	c.2802G>A	c.(2800-2802)caG>caA	p.Q934Q	CHL1_ENST00000397491.2_Silent_p.Q918Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACCTGAACAGCCAACTTTTC	0.299																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2800-2802)caG>caA		cell adhesion molecule L1-like		G		1,4405	2.1+/-5.4	0,1,2202	85.0	86.0	85.0		2802	-0.6	1.0	3	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous	CHL1	NM_006614.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		934/1225	433368	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:433368G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2802G>A	3.37:g.433368G>A						CHL1_ENST00000397491.2_Silent_p.Q918Q	p.Q934Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	23	3444	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	918			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.2802G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743787	0.15642	2.27E-4	0.0	ENSG00000134121	ENST00000445697	.	.	.	5.62	-0.555	0.11807	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54323	-0.8311	4	.	.	.	.	10.9911	0.47549	0.5608:0.0:0.4392:0.0	.	.	.	.	N	121	.	.	S	+	2	0	CHL1	408368	0.001000	0.12720	0.997000	0.53966	0.992000	0.81027	-1.298000	0.02756	0.033000	0.15463	0.650000	0.86243	AGC		0.299	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		59	328	0	0	0	1	0	59	328				
CLSPN	63967	broad.mit.edu	37	1	36208797	36208797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36208797C>T	ENST00000318121.3	-	18	3145	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K|CLSPN_ENST00000251195.5_Missense_Mutation_p.E1030K	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1030					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATCATCTTCATGGTCTTCC	0.368																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3088-3090)Gaa>Aaa		claspin							197.0	171.0	180.0					1																	36208797		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36208797C>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3088G>A	1.37:g.36208797C>T	ENSP00000312995:p.Glu1030Lys					CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1030K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|RP11-435D7.3_ENST00000373226.2_RNA	p.E1030K			Q9HAW4	CLSPN_HUMAN			18	3184	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1030					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.3088G>A	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446160	0.63178	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.26373	1.74;1.74;1.77;1.78	5.17	5.17	0.71159	.	0.326183	0.31531	N	0.007486	T	0.34193	0.0889	L	0.53249	1.67	0.34227	D	0.6761	P;D	0.56287	0.949;0.975	B;P	0.48815	0.31;0.591	T	0.48328	-0.9045	10	0.48119	T	0.1	-7.7497	15.7587	0.78058	0.0:1.0:0.0:0.0	.	966;1030	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	1030;1030;966;977	ENSP00000251195:E1030K;ENSP00000312995:E1030K;ENSP00000362317:E966K;ENSP00000428848:E977K	ENSP00000251195:E1030K	E	-	1	0	CLSPN	35981384	0.159000	0.22864	0.998000	0.56505	0.373000	0.29922	1.465000	0.35299	2.579000	0.87056	0.655000	0.94253	GAA		0.368	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		76	620	0	0	0	1	0	76	620				
ARHGEF12	23365	broad.mit.edu	37	11	120343820	120343820	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120343820A>C	ENST00000397843.2	+	31	3183	c.3017A>C	c.(3016-3018)aAt>aCt	p.N1006T	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1006					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGTACCCAAATGTTGAAGAG	0.408			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3016-3018)aAt>aCt		Rho guanine nucleotide exchange factor (GEF) 12							172.0	164.0	166.0					11																	120343820		1885	4117	6002	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120343820A>C	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3017A>C	11.37:g.120343820A>C	ENSP00000380942:p.Asn1006Thr					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T	p.N1006T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	31	3183	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1006					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3017A>C	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	8.450	0.852865	0.17106	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.42900	0.96;0.96;0.96	5.68	5.68	0.88126	Pleckstrin homology-type (1);	0.000000	0.52532	D	0.000067	T	0.27559	0.0677	N	0.22421	0.69	0.32375	N	0.555307	B;B;B	0.20368	0.001;0.044;0.026	B;B;B	0.21546	0.004;0.035;0.016	T	0.31971	-0.9924	10	0.19590	T	0.45	-22.8944	9.5185	0.39120	0.7351:0.0:0.0:0.2649	.	903;987;1006	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	T	1006;987;903	ENSP00000380942:N1006T;ENSP00000349056:N987T;ENSP00000432984:N903T	ENSP00000349056:N987T	N	+	2	0	ARHGEF12	119849030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.882000	0.56160	2.179000	0.69175	0.477000	0.44152	AAT		0.408	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		69	783	0	0	0	1	0	69	783				
PTPRR	5801	broad.mit.edu	37	12	71029672	71029672	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71029672C>A	ENST00000283228.2	-	0	3529				PTPRB_ENST00000550358.1_Missense_Mutation_p.G77V|PTPRB_ENST00000334414.6_Missense_Mutation_p.G77V|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.G76V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCGGGAGGGGCCGCGGGAAGA	0.547																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(229-231)gGc>gTc		protein tyrosine phosphatase, receptor type, B							68.0	68.0	68.0					12																	71029672		2000	4164	6164	SO:0001628	intergenic_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029672C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029672C>A						PTPRB_ENST00000551525.1_Missense_Mutation_p.G76V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G77V|PTPRB_ENST00000538174.2_5'UTR	p.G77V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	274	-	Renal(347;0.236)		0			Fibronectin type-III 1.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.230G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003628	0.19121	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.30448	1.53;1.53;1.53	6.04	2.52	0.30459	.	.	.	.	.	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	0.999999	P;P;P;P	0.39352	0.669;0.617;0.617;0.617	B;B;B;B	0.43889	0.435;0.178;0.173;0.173	T	0.10314	-1.0635	9	0.72032	D	0.01	.	5.8923	0.18919	0.1244:0.3332:0.4654:0.077	.	77;76;77;77	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	V	77;77;77;76	ENSP00000334928:G77V;ENSP00000448058:G77V;ENSP00000448349:G76V	ENSP00000334928:G77V	G	-	2	0	PTPRB	69315939	0.062000	0.20869	0.080000	0.20451	0.021000	0.10359	1.654000	0.37334	1.553000	0.49476	-0.300000	0.09419	GGC		0.547	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		25	112	1	0	4.26978e-12	1	4.57227e-12	25	112				
ENKUR	219670	broad.mit.edu	37	10	25273753	25273753	+	Missense_Mutation	SNP	G	G	A	rs200773323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25273753G>A	ENST00000331161.4	-	5	895	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	226	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTCTGCTTGCGGATCTTCTTT	0.388																																						ENST00000331161.4																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(676-678)Cgc>Tgc		enkurin, TRPC channel interacting protein							112.0	105.0	107.0					10																	25273753		2203	4300	6503	SO:0001583	missense	219670					cilium|flagellum	calmodulin binding|SH3 domain binding	g.chr10:25273753G>A	AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.676C>T	10.37:g.25273753G>A	ENSP00000331044:p.Arg226Cys					ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	p.R226C	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN			5	895	-			226					A8K8Y0|D3DRV2	Missense_Mutation	SNP	ENST00000331161.4	37	c.676C>T	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094431	0.56075	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.25	5.25	0.73442	.	0.363904	0.32473	N	0.006055	T	0.79879	0.4522	M	0.84082	2.675	0.43657	D	0.996073	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82528	-0.0412	9	0.87932	D	0	-25.1717	13.5449	0.61697	0.078:0.0:0.922:0.0	.	226;226	Q5VV23;Q8TC29	.;ENKUR_HUMAN	C	226	.	ENSP00000331044:R226C	R	-	1	0	ENKUR	25313759	0.995000	0.38212	0.908000	0.35775	0.524000	0.34500	2.989000	0.49393	2.602000	0.87976	0.557000	0.71058	CGC		0.388	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010		55	255	0	0	0	1	0	55	255				
CARS2	79587	broad.mit.edu	37	13	111329415	111329415	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111329415G>T	ENST00000257347.4	-	7	754	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	231					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCCTTCCACAGGGCGAAGTCA	0.617																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(691-693)Ctg>Atg		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						53.0	56.0	55.0					13																	111329415		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111329415G>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.691C>A	13.37:g.111329415G>T	ENSP00000257347:p.Leu231Met					CARS2_ENST00000535398.1_5'UTR	p.L231M	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		7	754	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		231					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.691C>A	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294309	0.40594	.	.	ENSG00000134905	ENST00000257347	T	0.69435	-0.4	5.42	3.69	0.42338	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.64402	D	0.000004	D	0.85522	0.5716	H	0.95884	3.735	0.53688	D	0.99997	D	0.89917	1.0	D	0.83275	0.996	D	0.86316	0.1689	10	0.72032	D	0.01	-25.8936	9.4363	0.38641	0.2184:0.0:0.7816:0.0	.	231	Q9HA77	SYCM_HUMAN	M	231	ENSP00000257347:L231M	ENSP00000257347:L231M	L	-	1	2	CARS2	110127416	0.998000	0.40836	0.914000	0.36105	0.114000	0.19823	2.351000	0.44071	0.673000	0.31224	-0.299000	0.09455	CTG		0.617	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		66	245	1	0	6.00099e-30	1	7.02477e-30	66	245				
HAPLN3	145864	broad.mit.edu	37	15	89421380	89421380	+	Missense_Mutation	SNP	C	C	T	rs145650819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421380C>T	ENST00000359595.3	-	5	1118	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A364T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	302	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	AACTTCCAGGCGGCAAAGAGC	0.632																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(904-906)Gcc>Acc		hyaluronan and proteoglycan link protein 3		C	THR/ALA	0,4400		0,0,2200	150.0	139.0	143.0		904	2.8	0.5	15	dbSNP_134	143	1,8597	1.2+/-3.3	0,1,4298	no	missense	HAPLN3	NM_178232.2	58	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	302/361	89421380	1,12997	2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421380C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.904G>A	15.37:g.89421380C>T	ENSP00000352606:p.Ala302Thr					HAPLN3_ENST00000562889.1_Missense_Mutation_p.A364T	p.A302T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			5	1118	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		302			Link 2.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.904G>A	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563356	0.86335	0.0	1.16E-4	ENSG00000140511	ENST00000359595	T	0.18502	2.21	4.7	2.76	0.32466	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.92604	3.325	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.48055	-0.9068	10	0.87932	D	0	-17.0017	8.2766	0.31877	0.1553:0.761:0.0:0.0837	.	302;302	A8K7T8;Q96S86	.;HPLN3_HUMAN	T	302	ENSP00000352606:A302T	ENSP00000352606:A302T	A	-	1	0	HAPLN3	87222384	1.000000	0.71417	0.544000	0.28141	0.929000	0.56500	7.391000	0.79828	0.481000	0.27557	0.655000	0.94253	GCC		0.632	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		33	924	0	0	0	1	0	33	924				
WDR60	55112	broad.mit.edu	37	7	158677270	158677270	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158677270A>C	ENST00000407559.3	+	6	1053	c.895A>C	c.(895-897)Aat>Cat	p.N299H		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	299					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACACAGAAATCGAGGTGC	0.423																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(895-897)Aat>Cat		WD repeat domain 60							93.0	94.0	93.0					7																	158677270		1930	4147	6077	SO:0001583	missense	55112							g.chr7:158677270A>C		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.895A>C	7.37:g.158677270A>C	ENSP00000384290:p.Asn299His						p.N299H	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	6	1053	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	299					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.895A>C	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	2.941	-0.218884	0.06101	.	.	ENSG00000126870	ENST00000407559	T	0.22945	1.93	4.31	1.86	0.25419	.	0.412908	0.23791	N	0.044526	T	0.11067	0.0270	N	0.17082	0.46	0.19300	N	0.99998	B	0.06786	0.001	B	0.04013	0.001	T	0.33189	-0.9878	10	0.10377	T	0.69	-9.2587	4.4363	0.11552	0.6918:0.2006:0.1076:0.0	.	299	Q8WVS4	WDR60_HUMAN	H	299	ENSP00000384290:N299H	ENSP00000384290:N299H	N	+	1	0	WDR60	158370031	0.121000	0.22262	0.392000	0.26245	0.108000	0.19459	0.617000	0.24359	0.155000	0.19261	0.496000	0.49642	AAT		0.423	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		11	130	0	0	0	1	0	11	130				
PHB	5245	broad.mit.edu	37	17	47486797	47486797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47486797G>A	ENST00000300408.3	-	4	361	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Missense_Mutation_p.R97W|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	97					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GCGACAGGCCGGAAGAGGATG	0.483																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(289-291)Cgg>Tgg		prohibitin							83.0	83.0	83.0					17																	47486797		2203	4300	6503	SO:0001583	missense	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47486797G>A		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.289C>T	17.37:g.47486797G>A	ENSP00000300408:p.Arg97Trp					PHB_ENST00000511832.1_Missense_Mutation_p.R97W|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000508009.1_5'UTR	p.R97W	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		4	361	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		97					B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	c.289C>T	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985805	0.53934	.	.	ENSG00000167085	ENST00000300408;ENST00000511832;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735;ENST00000434917	D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	M	0.78916	2.43	0.80722	D	1	B	0.31680	0.335	B	0.33454	0.164	D	0.94256	0.7498	10	0.59425	D	0.04	.	13.1005	0.59218	0.0:0.0:0.7967:0.2033	.	97	P35232	PHB_HUMAN	W	97	ENSP00000300408:R97W;ENSP00000425035:R97W;ENSP00000393320:R97W;ENSP00000426433:R97W;ENSP00000422182:R97W;ENSP00000407828:R97W;ENSP00000410680:R97W	ENSP00000300408:R97W	R	-	1	2	PHB	44841796	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.076000	0.57591	2.350000	0.79820	0.462000	0.41574	CGG		0.483	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		58	302	0	0	0	1	0	58	302				
ZNF385B	151126	broad.mit.edu	37	2	180310425	180310425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180310425C>T	ENST00000410066.1	-	8	1550	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	316	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AGCCCCATTACGAGCTTCAAC	0.378																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(946-948)cGt>cAt		zinc finger protein 385B							124.0	113.0	117.0					2																	180310425		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180310425C>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.947G>A	2.37:g.180310425C>T	ENSP00000386845:p.Arg316His					ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H	p.R316H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		8	1550	-			316					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.947G>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464584	0.96257	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.95	5.95	0.96441	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.57312	-0.7833	10	0.44086	T	0.13	-8.0555	20.3748	0.98911	0.0:1.0:0.0:0.0	.	316;240	Q569K4;Q569K4-2	Z385B_HUMAN;.	H	316;214;240;214;214	ENSP00000386845:R316H;ENSP00000338225:R214H;ENSP00000386379:R240H;ENSP00000386507:R214H;ENSP00000394038:R214H	ENSP00000338225:R214H	R	-	2	0	ZNF385B	180018670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT		0.378	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		54	328	0	0	0	1	0	54	328				
SUCLA2	8803	broad.mit.edu	37	13	48528619	48528619	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48528619C>A	ENST00000378654.3	-	7	932	c.876G>T	c.(874-876)caG>caT	p.Q292H	SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	292					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GGGTCCAGTCCTGTAGATCAA	0.403																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(874-876)caG>caT		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						88.0	86.0	87.0					13																	48528619		2203	4300	6503	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48528619C>A	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.876G>T	13.37:g.48528619C>A	ENSP00000367923:p.Gln292His					SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H	p.Q292H	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	7	932	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	292					B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.876G>T	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.779577	0.31502	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.67	1.94	0.25998	ATP-grasp fold, subdomain 2 (1);	0.183522	0.51477	D	0.000096	T	0.47173	0.1431	N	0.19112	0.55	0.41963	D	0.990719	B	0.15141	0.012	B	0.19148	0.024	T	0.33394	-0.9870	10	0.51188	T	0.08	0.7528	7.3261	0.26555	0.1155:0.6275:0.0:0.257	.	292	Q9P2R7	SUCB1_HUMAN	H	292;270;222;144;158;234;234;120;222;144	ENSP00000367923:Q292H;ENSP00000443412:Q158H;ENSP00000438182:Q234H;ENSP00000441056:Q234H;ENSP00000392771:Q222H;ENSP00000415091:Q144H	ENSP00000367898:Q144H	Q	-	3	2	SUCLA2	47426620	0.999000	0.42202	0.909000	0.35828	0.983000	0.72400	0.716000	0.25836	0.413000	0.25759	-0.143000	0.13931	CAG		0.403	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			102	371	1	0	2.68873e-43	1	3.28104e-43	102	371				
SATB1	6304	broad.mit.edu	37	3	18419793	18419793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18419793C>A	ENST00000338745.6	-	9	3178	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	482					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCATTCCTTTCAGTGGCAATA	0.393																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1444-1446)Gaa>Taa		SATB homeobox 1							216.0	213.0	214.0					3																	18419793		2203	4300	6503	SO:0001587	stop_gained	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18419793C>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1444G>T	3.37:g.18419793C>A	ENSP00000341024:p.Glu482*					SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|TBC1D5_ENST00000414318.2_Intron	p.E482*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			9	3178	-			482					B3KXF1|C9JTR6|Q59EQ0	Nonsense_Mutation	SNP	ENST00000338745.6	37	c.1444G>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	42	9.317731	0.99135	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.9854	19.6513	0.95812	0.0:1.0:0.0:0.0	.	.	.	.	X	482	.	ENSP00000341024:E482X	E	-	1	0	SATB1	18394797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.704000	0.92352	0.650000	0.86243	GAA		0.393	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		174	774	1	0	2.88683e-70	1	3.66652e-70	174	774				
PLXNA1	5361	broad.mit.edu	37	3	126735821	126735821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735821C>A	ENST00000393409.2	+	16	3217	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1050M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1073	IPT/TIG 3.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCACCAACCTGGCCACTGT	0.642																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3148-3150)Ctg>Atg		plexin A1							65.0	63.0	64.0					3																	126735821		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126735821C>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3217C>A	3.37:g.126735821C>A	ENSP00000377061:p.Leu1073Met					PLXNA1_ENST00000393409.2_Missense_Mutation_p.L1073M	p.L1050M			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	16	3217	+			1073			IPT/TIG 3.			Missense_Mutation	SNP	ENST00000393409.2	37	c.3148C>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330291	0.60743	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	D;D	0.81499	-1.5;-1.5	4.08	3.21	0.36854	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000078	D	0.89663	0.6780	M	0.90870	3.155	0.46725	D	0.99917	D	0.89917	1.0	D	0.97110	1.0	D	0.88768	0.3262	10	0.87932	D	0	.	6.8375	0.23945	0.0:0.6852:0.1465:0.1683	.	1073	Q9UIW2	PLXA1_HUMAN	M	1073;1050	ENSP00000377061:L1073M;ENSP00000251772:L1050M	ENSP00000251772:L1050M	L	+	1	2	PLXNA1	128218511	0.996000	0.38824	1.000000	0.80357	0.824000	0.46624	1.916000	0.39986	0.935000	0.37341	0.491000	0.48974	CTG		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		53	296	1	0	5.82218e-30	1	6.81768e-30	53	296				
MAP4K2	5871	broad.mit.edu	37	11	64563851	64563851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64563851G>A	ENST00000294066.2	-	24	1736	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	549	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCCCAGATGTGCGTGGATTTC	0.647																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(1645-1647)Cac>Tac		mitogen-activated protein kinase kinase kinase kinase 2							73.0	74.0	73.0					11																	64563851		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64563851G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1645C>T	11.37:g.64563851G>A	ENSP00000294066:p.His549Tyr					MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	p.H549Y	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			24	1736	-			549			CNH.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.1645C>T	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191818	0.58017	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.04706	3.57;3.57	4.31	4.31	0.51392	Citron-like (3);	0.292538	0.33712	N	0.004633	T	0.06554	0.0168	N	0.21194	0.64	0.37448	D	0.914713	P;D	0.53619	0.925;0.961	P;P	0.51701	0.53;0.677	T	0.51576	-0.8688	10	0.27785	T	0.31	.	12.1955	0.54294	0.0:0.0:1.0:0.0	.	541;549	Q86VU3;Q12851	.;M4K2_HUMAN	Y	549;541	ENSP00000294066:H549Y;ENSP00000366567:H541Y	ENSP00000294066:H549Y	H	-	1	0	MAP4K2	64320427	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.001000	0.63946	2.247000	0.74100	0.558000	0.71614	CAC		0.647	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		62	265	0	0	0	1	0	62	265				
AMZ1	155185	broad.mit.edu	37	7	2740161	2740161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2740161G>A	ENST00000312371.4	+	2	444	c.76G>A	c.(76-78)Gca>Aca	p.A26T	AMZ1_ENST00000407112.1_Missense_Mutation_p.A26T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	26							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A26T(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTCCACTGACGCAGCCCTGCA	0.667																																						ENST00000312371.4																			1	Substitution - Missense(1)	p.A26T(1)	large_intestine(1)	breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(76-78)Gca>Aca		archaelysin family metallopeptidase 1							102.0	108.0	106.0					7																	2740161		2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740161G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.76G>A	7.37:g.2740161G>A	ENSP00000308149:p.Ala26Thr					AMZ1_ENST00000407112.1_Missense_Mutation_p.A26T	p.A26T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	444	+		Ovarian(82;0.0779)	26					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.76G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	8.931	0.963565	0.18583	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.31510	1.96;1.49	4.24	-1.64	0.08318	.	0.887885	0.09591	N	0.781532	T	0.13798	0.0334	N	0.08118	0	0.09310	N	1	B;B	0.34181	0.44;0.013	B;B	0.19148	0.024;0.002	T	0.08310	-1.0728	10	0.45353	T	0.12	-4.1793	13.1227	0.59336	0.0997:0.7429:0.1574:0.0	.	26;26	B3KRS0;Q400G9	.;AMZ1_HUMAN	T	26	ENSP00000308149:A26T;ENSP00000386020:A26T	ENSP00000308149:A26T	A	+	1	0	AMZ1	2706687	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.545000	0.06069	-0.376000	0.07943	-0.311000	0.09066	GCA		0.667	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		14	1035	0	0	0	1	0	14	1035				
NOL6	65083	broad.mit.edu	37	9	33468868	33468868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468868G>A	ENST00000379471.2	-	8	1116	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Silent_p.G283G			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	343					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCCACCCTGGCCCTGAAAGA	0.582																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1027-1029)ggC>ggT		nucleolar protein 6 (RNA-associated)							123.0	129.0	127.0					9																	33468868		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468868G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1029C>T	9.37:g.33468868G>A						NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Silent_p.G283G	p.G343G			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	8	1116	-			343					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1029C>T																																																																																					0.582	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		40	1031	0	0	0	1	0	40	1031				
KRTAP10-12	386685	broad.mit.edu	37	21	46117739	46117739	+	Missense_Mutation	SNP	G	G	A	rs576036099		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117739G>A	ENST00000400365.3	+	1	653	c.623G>A	c.(622-624)cGc>cAc	p.R208H	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	208	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCCGCCCGCCGCGTGCCCGTC	0.711																																						ENST00000400365.3																			0				large_intestine(1)|lung(8)	9						c.(622-624)cGc>cAc		keratin associated protein 10-12							53.0	68.0	63.0					21																	46117739		2200	4294	6494	SO:0001583	missense	386685					keratin filament		g.chr21:46117739G>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.623G>A	21.37:g.46117739G>A	ENSP00000383216:p.Arg208His					TSPEAR_ENST00000323084.4_Intron	p.R208H	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN			1	653	+			208			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.623G>A	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	g	8.677	0.904269	0.17760	.	.	ENSG00000189169	ENST00000400365	T	0.00630	6.1	2.6	2.6	0.31112	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.22500	N	0.999047	B	0.20550	0.046	B	0.04013	0.001	T	0.48068	-0.9067	9	0.59425	D	0.04	.	5.7084	0.17921	0.1658:0.0:0.8342:0.0	.	208	P60413	KR10C_HUMAN	H	208	ENSP00000383216:R208H	ENSP00000383216:R208H	R	+	2	0	KRTAP10-12	44942167	0.133000	0.22466	0.939000	0.37840	0.006000	0.05464	0.289000	0.18957	1.155000	0.42497	0.298000	0.19748	CGC		0.711	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		88	762	0	0	0	1	0	88	762				
DST	667	broad.mit.edu	37	6	56484401	56484401	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56484401A>G	ENST00000370765.6	-	23	4538	c.4431T>C	c.(4429-4431)aaT>aaC	p.N1477N	DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6328					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTTTCATGATTAAGAGATT	0.343																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4429-4431)aaT>aaC		dystonin							94.0	95.0	94.0					6																	56484401		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484401A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4431T>C	6.37:g.56484401A>G						DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron	p.N1477N	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	4538	-	Lung NSC(77;0.103)		5149					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	c.4431T>C	CCDS4959.1																																																																																				0.343	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		71	373	0	0	0	1	0	71	373				
HERC1	8925	broad.mit.edu	37	15	63920906	63920906	+	Missense_Mutation	SNP	T	T	C	rs2229746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63920906T>C	ENST00000443617.2	-	70	13162	c.13075A>G	c.(13075-13077)Aca>Gca	p.T4359A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4359					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTGGTGCTGTCCATGCAGCA	0.532																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13075-13077)Aca>Gca		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							81.0	86.0	85.0					15																	63920906		1987	4174	6161	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63920906T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13075A>G	15.37:g.63920906T>C	ENSP00000390158:p.Thr4359Ala						p.T4359A	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			70	13162	-			4359					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13075A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648175	0.67358	.	.	ENSG00000103657	ENST00000443617	T	0.80033	-1.33	6.02	6.02	0.97574	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.138522	0.47093	D	0.000242	T	0.74589	0.3736	L	0.40543	1.245	0.80722	D	1	B	0.31077	0.307	B	0.24701	0.055	T	0.74751	-0.3559	10	0.72032	D	0.01	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	4359	Q15751	HERC1_HUMAN	A	4359	ENSP00000390158:T4359A	ENSP00000390158:T4359A	T	-	1	0	HERC1	61707959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.196000	0.72094	2.299000	0.77371	0.528000	0.53228	ACA		0.532	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		53	211	0	0	0	1	0	53	211				
PNLIPRP3	119548	broad.mit.edu	37	10	118231349	118231349	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118231349T>C	ENST00000369230.3	+	10	1276	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	377	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTTCTTCGTGTAGGCGGGGCA	0.478																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1129-1131)gTa>gCa		pancreatic lipase-related protein 3							160.0	168.0	165.0					10																	118231349		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118231349T>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1130T>C	10.37:g.118231349T>C	ENSP00000358232:p.Val377Ala						p.V377A	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	10	1276	+			377			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1130T>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970902	0.53614	.	.	ENSG00000203837	ENST00000369230	T	0.72282	-0.64	4.18	4.18	0.49190	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.073260	0.07498	N	0.906784	T	0.70254	0.3203	L	0.51422	1.61	0.09310	N	1	B	0.33549	0.417	B	0.38296	0.27	T	0.62923	-0.6751	10	0.87932	D	0	.	11.2943	0.49269	0.0:0.0:0.0:1.0	.	377	Q17RR3	LIPR3_HUMAN	A	377	ENSP00000358232:V377A	ENSP00000358232:V377A	V	+	2	0	PNLIPRP3	118221339	0.028000	0.19301	0.038000	0.18304	0.022000	0.10575	3.283000	0.51701	1.848000	0.53677	0.482000	0.46254	GTA		0.478	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		54	476	0	0	0	1	0	54	476				
SCRN1	9805	broad.mit.edu	37	7	29983622	29983622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983622C>T	ENST00000426154.1	-	4	691	c.515G>A	c.(514-516)gGg>gAg	p.G172E	SCRN1_ENST00000494620.1_5'Flank|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192E|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCAGTACTTCCCTATGGTCTC	0.532																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(514-516)gGg>gAg		secernin 1							159.0	132.0	141.0					7																	29983622		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29983622C>T	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.515G>A	7.37:g.29983622C>T	ENSP00000409068:p.Gly172Glu					SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E	p.G172E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			4	691	-			172					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.515G>A	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199317	0.94997	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;2.28;-0.11;-0.11	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90095	0.4180	9	.	.	.	-16.4932	18.6916	0.91585	0.0:1.0:0.0:0.0	.	192;104;172	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	E	172;172;104;172;63;192;172	ENSP00000242059:G172E;ENSP00000409068:G172E;ENSP00000414245:G104E;ENSP00000386872:G172E;ENSP00000407460:G63E;ENSP00000388942:G192E;ENSP00000413184:G172E	.	G	-	2	0	SCRN1	29950147	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GGG		0.532	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		90	419	0	0	0	1	0	90	419				
C17orf70	80233	broad.mit.edu	37	17	79512857	79512857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79512857G>A	ENST00000327787.8	-	6	2271	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V|C17orf70_ENST00000537152.1_Missense_Mutation_p.A591V			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	742					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GACGTCCACAGCAGCATTCTC	0.637																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1771-1773)gCt>gTt		chromosome 17 open reading frame 70							53.0	38.0	43.0					17																	79512857		2201	4300	6501	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79512857G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2225C>T	17.37:g.79512857G>A	ENSP00000333283:p.Ala742Val					C17orf70_ENST00000327787.8_Missense_Mutation_p.A742V|C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V	p.A591V	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		6	2297	-	all_neural(118;0.0878)|Melanoma(429;0.242)		742					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1772C>T	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	9.031	0.987306	0.18889	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.33865	1.39;1.39;1.39	4.56	0.971	0.19698	.	0.342070	0.24379	N	0.039031	T	0.25827	0.0629	L	0.57536	1.79	0.09310	N	1	P;P	0.36909	0.573;0.573	B;B	0.32677	0.107;0.15	T	0.19976	-1.0289	10	0.59425	D	0.04	.	2.7171	0.05190	0.4037:0.0:0.3887:0.2076	.	742;391	Q0VG06;E7EVV8	FP100_HUMAN;.	V	742;391;115;591	ENSP00000333283:A742V;ENSP00000399674:A391V;ENSP00000440151:A591V	ENSP00000333283:A742V	A	-	2	0	C17orf70	77123310	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.346000	0.07760	0.369000	0.24510	0.561000	0.74099	GCT		0.637	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		21	155	0	0	0	1	0	21	155				
BTN1A1	696	broad.mit.edu	37	6	26505184	26505184	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26505184A>C	ENST00000244513.6	+	3	525	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	153	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCAGTATGCAAGTTCAAGAGA	0.498																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(457-459)caA>caC		butyrophilin, subfamily 1, member A1							67.0	66.0	67.0					6																	26505184		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26505184A>C	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.459A>C	6.37:g.26505184A>C	ENSP00000244513:p.Gln153His						p.Q153H	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			3	525	+			153			Ig-like V-type 2.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.459A>C	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100831	0.37048	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.76448	-1.02	5.63	1.89	0.25635	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.847946	0.10453	N	0.672858	T	0.37128	0.0992	N	0.10760	0.04	0.22034	N	0.999404	B	0.14012	0.009	B	0.17979	0.02	T	0.36720	-0.9736	10	0.66056	D	0.02	.	6.3797	0.21527	0.6791:0.0:0.3209:0.0	.	153	Q13410	BT1A1_HUMAN	H	153	ENSP00000244513:Q153H	ENSP00000244513:Q153H	Q	+	3	2	BTN1A1	26613163	0.312000	0.24545	0.650000	0.29550	0.602000	0.36980	0.457000	0.21875	0.381000	0.24851	0.533000	0.62120	CAA		0.498	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		38	173	0	0	0	1	0	38	173				
IGHA1	3493	broad.mit.edu	37	14	106174356	106174356	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106174356G>T	ENST00000390547.2	-	0	432							P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GTGCACGTGAGGTTCGCTTCT	0.612																																						ENST00000390547.2																			0																				44.0	50.0	48.0					14																	106174356		2135	4230	6365			0							g.chr14:106174356G>T	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106174356G>T														0	432	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.612	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		19	62	1	0	7.45023e-12	1	7.97024e-12	19	62				
PRSS50	29122	broad.mit.edu	37	3	46785608	46785608	+	Intron	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46785608G>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.L46I			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GAGGTGCCAAGCACCACTGAG	0.587																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(136-138)Ctt>Att		protease, serine, 45							27.0	32.0	30.0					3																	46785608		1980	4173	6153	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46785608G>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+4506C>A	3.37:g.46785608G>T						PRSS50_ENST00000460241.1_Intron	p.L46I	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			2	135	-			46			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.136C>A	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532745	0.45073	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.90261	-2.64	5.16	0.901	0.19284	.	0.527049	0.15839	N	0.242108	D	0.84692	0.5528	L	0.60455	1.87	0.33594	D	0.601433	B	0.25563	0.129	B	0.20955	0.032	T	0.80402	-0.1397	10	0.72032	D	0.01	.	2.2583	0.04060	0.1006:0.1597:0.374:0.3656	.	46	Q7RTY3-2	.	I	46	ENSP00000401932:L46I	ENSP00000330940:L46I	L	-	1	0	PRSS45	46760612	0.826000	0.29277	0.075000	0.20258	0.895000	0.52256	1.469000	0.35343	0.313000	0.23062	0.563000	0.77884	CTT		0.587	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			6	39	1	0	0.217242	1	0.217458	6	39				
HNRNPC	3183	broad.mit.edu	37	14	21702191	21702191	+	Silent	SNP	G	G	A	rs117138992		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21702191G>A	ENST00000320084.7	-	2	401	c.162C>T	c.(160-162)ttC>ttT	p.F54F	HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000430246.2_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATACTGAACGAAGGCAAAGC	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18339	0.0		0.001	False		,,,				2504	0.0				NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(160-162)ttC>ttT		heterogeneous nuclear ribonucleoprotein C (C1/C2)							86.0	85.0	85.0					14																	21702191		2193	4294	6487	SO:0001819	synonymous_variant	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21702191G>A		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.162C>T	14.37:g.21702191G>A						HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000320084.7_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F	p.F54F			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	2	3113	-	all_cancers(95;0.00176)		54			RRM.		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Silent	SNP	ENST00000320084.7	37	c.162C>T	CCDS41915.1																																																																																				0.443	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			144	547	0	0	0	1	0	144	547				
OR5AK2	390181	broad.mit.edu	37	11	56756842	56756842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756842G>A	ENST00000326855.2	+	1	496	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATACATCATGGGCTCAATAAA	0.438																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(454-456)Ggc>Agc		olfactory receptor, family 5, subfamily AK, member 2							227.0	199.0	208.0					11																	56756842		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756842G>A	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.454G>A	11.37:g.56756842G>A	ENSP00000322784:p.Gly152Ser						p.G152S	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	496	+			152					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.454G>A	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921760	0.33908	.	.	ENSG00000181273	ENST00000326855	T	0.32988	1.43	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.173615	0.27442	N	0.019346	T	0.40767	0.1130	L	0.47078	1.49	0.09310	N	1	D	0.53462	0.96	P	0.54924	0.764	T	0.20306	-1.0279	10	0.46703	T	0.11	-16.038	14.912	0.70764	0.0:0.0:1.0:0.0	.	152	Q8NH90	O5AK2_HUMAN	S	152	ENSP00000322784:G152S	ENSP00000322784:G152S	G	+	1	0	OR5AK2	56513418	0.982000	0.34865	0.051000	0.19133	0.085000	0.17905	3.704000	0.54815	2.142000	0.66516	0.194000	0.17425	GGC		0.438	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		40	775	0	0	0	1	0	40	775				
ZNF234	10780	broad.mit.edu	37	19	44660497	44660497	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44660497G>T	ENST00000426739.2	+	6	586	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	110	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GATTGCAAGTGATTTAATCAA	0.448																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(328-330)Gat>Tat		zinc finger protein 234							75.0	77.0	77.0					19																	44660497		1966	4185	6151	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660497G>T	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.328G>T	19.37:g.44660497G>T	ENSP00000400878:p.Asp110Tyr					ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	p.D110Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	586	+		Prostate(69;0.0435)	110			KRNB.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.328G>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375262	0.42105	.	.	ENSG00000167380	ENST00000426739	T	0.05996	3.36	3.34	2.28	0.28536	.	.	.	.	.	T	0.10078	0.0247	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.27331	-1.0077	9	0.42905	T	0.14	.	4.1781	0.10362	0.121:0.0:0.648:0.2311	.	110	Q14588	ZN234_HUMAN	Y	110	ENSP00000400878:D110Y	ENSP00000400878:D110Y	D	+	1	0	ZNF226	49352337	0.099000	0.21834	0.017000	0.16124	0.292000	0.27327	0.985000	0.29578	0.960000	0.38005	0.591000	0.81541	GAT		0.448	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			83	308	1	0	5.52753e-52	1	6.87006e-52	83	308				
ABCC5	10057	broad.mit.edu	37	3	183700361	183700361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183700361C>T	ENST00000334444.6	-	7	1117	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	293	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGGCTGCCAACGGCTGCTGCC	0.488																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(877-879)Gtt>Att		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							48.0	49.0	49.0					3																	183700361		1885	4109	5994	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700361C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.877G>A	3.37:g.183700361C>T	ENSP00000333926:p.Val293Ile					ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I	p.V293I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1117	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		293			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.877G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169779	0.38315	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.89485	-2.52;-2.52	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.063143	0.64402	D	0.000007	T	0.81880	0.4916	N	0.16307	0.4	0.58432	D	0.999992	P;B	0.34837	0.472;0.065	B;B	0.25140	0.058;0.032	T	0.81247	-0.1019	10	0.62326	D	0.03	-17.1801	20.8794	0.99867	0.0:1.0:0.0:0.0	.	293;293	Q86UX3;O15440	.;MRP5_HUMAN	I	293;229;293	ENSP00000333926:V293I;ENSP00000265586:V293I	ENSP00000265586:V293I	V	-	1	0	ABCC5	185183055	0.998000	0.40836	0.849000	0.33467	0.981000	0.71138	3.714000	0.54889	2.941000	0.99782	0.655000	0.94253	GTT		0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		54	268	0	0	0	1	0	54	268				
LIAS	11019	broad.mit.edu	37	4	39482215	39482215	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39482215C>T	ENST00000261434.3	+	0	1775				RP11-472B18.1_ENST00000513652.1_RNA	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						ACTATGCTCTCTAAAGTTCAC	0.542																																						ENST00000513652.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr4:39482215C>T	AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369		4.37:g.39482215C>T														0	341	+									RNA	SNP	ENST00000261434.3	37		CCDS3453.1																																																																																				0.542	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216815.1	NM_194451		112	411	0	0	0	1	0	112	411				
ADAMTS7	11173	broad.mit.edu	37	15	79059345	79059345	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059345T>C	ENST00000388820.4	-	19	3118	c.2908A>G	c.(2908-2910)Acc>Gcc	p.T970A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	970	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGTCATTGGTGCAGAGGACA	0.667																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2908-2910)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							41.0	45.0	44.0					15																	79059345		2192	4280	6472	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059345T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2908A>G	15.37:g.79059345T>C	ENSP00000373472:p.Thr970Ala					ADAMTS7_ENST00000566303.1_5'UTR	p.T970A	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3118	-			970			TSP type-1 4.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2908A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	0.858	-0.736240	0.03111	.	.	ENSG00000136378	ENST00000388820	T	0.50548	0.74	4.83	2.5	0.30297	.	0.752267	0.12865	N	0.432744	T	0.28995	0.0720	N	0.21194	0.64	0.19300	N	0.999978	B	0.21452	0.056	B	0.27076	0.076	T	0.30650	-0.9971	10	0.05959	T	0.93	.	8.0235	0.30423	0.0:0.1736:0.0:0.8264	.	970	Q9UKP4	ATS7_HUMAN	A	970	ENSP00000373472:T970A	ENSP00000373472:T970A	T	-	1	0	ADAMTS7	76846400	1.000000	0.71417	0.004000	0.12327	0.062000	0.15995	2.832000	0.48152	0.213000	0.20722	-0.342000	0.07992	ACC		0.667	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		60	283	0	0	0	1	0	60	283				
ZSWIM5	57643	broad.mit.edu	37	1	45553598	45553598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45553598C>T	ENST00000359600.5	-	2	1112	c.907G>A	c.(907-909)Gca>Aca	p.A303T	ZSWIM5_ENST00000464588.1_5'Flank	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	303						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCTCATCTGCCAGTTTCTGT	0.378																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(907-909)Gca>Aca		zinc finger, SWIM-type containing 5							144.0	135.0	138.0					1																	45553598		1855	4097	5952	SO:0001583	missense	57643						zinc ion binding	g.chr1:45553598C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.907G>A	1.37:g.45553598C>T	ENSP00000352614:p.Ala303Thr						p.A303T	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			2	1112	-	Acute lymphoblastic leukemia(166;0.155)		303					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.907G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209779	0.95069	.	.	ENSG00000162415	ENST00000359600	T	0.21361	2.01	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54944	-0.8217	10	0.52906	T	0.07	-8.6546	18.0844	0.89453	0.0:1.0:0.0:0.0	.	303	Q9P217	ZSWM5_HUMAN	T	303	ENSP00000352614:A303T	ENSP00000352614:A303T	A	-	1	0	ZSWIM5	45326185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.432000	0.82394	0.563000	0.77884	GCA		0.378	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		67	577	0	0	0	1	0	67	577				
SNRPA1	6627	broad.mit.edu	37	15	101821938	101821938	+	Silent	SNP	G	G	A	rs151201574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101821938G>A	ENST00000254193.6	-	9	831	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	253					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAGGACCCGTTTGTGACTG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20652	0.0		0.0	False		,,,				2504	0.0					ENST00000254193.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(757-759)aaC>aaT		small nuclear ribonucleoprotein polypeptide A'		G		1,4405	2.1+/-5.4	0,1,2202	100.0	96.0	98.0		759	-8.6	0.3	15	dbSNP_134	98	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous	SNRPA1	NM_003090.2		0,14,6489	AA,AG,GG		0.1512,0.0227,0.1076		253/256	101821938	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101821938G>A	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.759C>T	15.37:g.101821938G>A							p.N253N	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	831	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		253					B2R5I6|Q8TBD2	Silent	SNP	ENST00000254193.6	37	c.759C>T	CCDS10391.1																																																																																				0.413	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		51	232	0	0	0	1	0	51	232				
KIAA1841	84542	broad.mit.edu	37	2	61343134	61343134	+	Missense_Mutation	SNP	A	A	C	rs146888479	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61343134A>C	ENST00000402291.1	+	17	2006	c.1765A>C	c.(1765-1767)Aag>Cag	p.K589Q	KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q|KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	589										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAAGCCAAAGAAGTTCACTAG	0.383																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1765-1767)Aag>Cag		KIAA1841							107.0	114.0	112.0					2																	61343134		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61343134A>C	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1765A>C	2.37:g.61343134A>C	ENSP00000385579:p.Lys589Gln					KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q|KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q	p.K589Q	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		17	2006	+			589					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1765A>C	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863708	0.71949	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.35	5.35	0.76521	.	0.166361	0.56097	D	0.000040	T	0.46946	0.1419	M	0.64997	1.995	0.50632	D	0.999884	D;P	0.54601	0.967;0.905	P;P	0.50490	0.642;0.462	T	0.46679	-0.9174	10	0.48119	T	0.1	-12.7431	15.3031	0.73969	1.0:0.0:0.0:0.0	.	589;589	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	Q	589	ENSP00000385579:K589Q;ENSP00000295031:K589Q;ENSP00000349154:K589Q;ENSP00000416795:K589Q	ENSP00000295031:K589Q	K	+	1	0	KIAA1841	61196638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.388000	0.73195	2.151000	0.67156	0.460000	0.39030	AAG		0.383	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		64	228	0	0	0	1	0	64	228				
AIFM3	150209	broad.mit.edu	37	22	21330996	21330996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21330996C>T	ENST00000399167.2	+	12	1327	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	AIFM3_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000405089.1_Silent_p.L369L|AIFM3_ENST00000333607.6_Silent_p.L363L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000399163.2_Silent_p.L363L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	363					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTGGTGGAGCTGGAGGAGAC	0.672																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1087-1089)Ctg>Ttg		apoptosis-inducing factor, mitochondrion-associated, 3																																				SO:0001819	synonymous_variant	150209							g.chr22:21330996C>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1087C>T	22.37:g.21330996C>T						AIFM3_ENST00000333607.6_Silent_p.L363L|AIFM3_ENST00000405089.1_Silent_p.L369L|AIFM3_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.L363L	p.L363L	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		12	1327	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.1087C>T	CCDS13786.1																																																																																				0.672	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		17	83	0	0	0	1	0	17	83				
FANCD2	2177	broad.mit.edu	37	3	10116274	10116274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10116274C>T	ENST00000419585.1	+	29	2937	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.R926*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	926					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCTTTTTTCCGAGAGCTGGA	0.398			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2776-2778)Cga>Tga	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							138.0	124.0	129.0					3																	10116274		2203	4300	6503	SO:0001587	stop_gained	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10116274C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2776C>T	3.37:g.10116274C>T	ENSP00000398754:p.Arg926*					FANCD2_ENST00000383806.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000419585.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*	p.R926*	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	29	2869	+			926					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	c.2776C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	42	9.551584	0.99202	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6161	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	X	926	.	ENSP00000287647:R926X	R	+	1	2	FANCD2	10091274	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.974000	0.63771	2.749000	0.94314	0.650000	0.86243	CGA		0.398	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			8	303	0	0	0	1	0	8	303				
RET	5979	broad.mit.edu	37	10	43601943	43601943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43601943C>A	ENST00000355710.3	+	5	1219	c.987C>A	c.(985-987)ttC>ttA	p.F329L	RET_ENST00000340058.5_Missense_Mutation_p.F329L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	329					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGCAGACCTTCCGGGTGGAAC	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(985-987)ttC>ttA		ret proto-oncogene	Sunitinib(DB01268)						54.0	46.0	49.0					10																	43601943		2202	4300	6502	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43601943C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.987C>A	10.37:g.43601943C>A	ENSP00000347942:p.Phe329Leu					RET_ENST00000340058.5_Missense_Mutation_p.F329L	p.F329L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			5	1219	+		Ovarian(717;0.0423)	329					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.987C>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593304	0.86953	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80304	-1.25;-1.36	5.32	4.41	0.53225	.	0.108147	0.64402	D	0.000002	D	0.86422	0.5929	M	0.63843	1.955	0.54753	D	0.999985	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.85130	0.986;0.917;0.997	D	0.84611	0.0678	10	0.30854	T	0.27	.	11.9086	0.52727	0.0:0.9158:0.0:0.0842	.	75;329;329	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	L	329	ENSP00000347942:F329L;ENSP00000344798:F329L	ENSP00000344798:F329L	F	+	3	2	RET	42921949	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.325000	0.33724	1.478000	0.48253	0.563000	0.77884	TTC		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		18	139	1	0	1.99824e-07	1	2.07512e-07	18	139				
SLC35E2	9906	broad.mit.edu	37	1	1666219	1666219	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1666219A>G	ENST00000246421.4	-	5	1057	c.642T>C	c.(640-642)ggT>ggC	p.G214G	RP1-283E3.8_ENST00000598846.1_RNA|RP1-283E3.4_ENST00000417099.1_RNA|SLC35E2_ENST00000400924.1_Silent_p.G214G|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000355439.2_Silent_p.G214G	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	214						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AAGCAGCAGCACCACGTCCTG	0.547																																						ENST00000355439.2																			0				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(640-642)ggT>ggC		solute carrier family 35, member E2							96.0	56.0	69.0					1																	1666219		2203	4300	6503	SO:0001819	synonymous_variant	9906					integral to membrane		g.chr1:1666219A>G	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.642T>C	1.37:g.1666219A>G						RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000246421.4_Silent_p.G214G|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000400924.1_Silent_p.G214G	p.G214G	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	1402	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	214					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Silent	SNP	ENST00000246421.4	37	c.642T>C	CCDS33.1																																																																																				0.547	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		9	164	0	0	0	1	0	9	164				
FAT2	2196	broad.mit.edu	37	5	150920160	150920160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150920160C>T	ENST00000261800.5	-	10	9019	c.9007G>A	c.(9007-9009)Gac>Aac	p.D3003N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3003	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTGACGTCCAGGACAAAG	0.547																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9007-9009)Gac>Aac		FAT atypical cadherin 2							94.0	79.0	84.0					5																	150920160		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150920160C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9007G>A	5.37:g.150920160C>T	ENSP00000261800:p.Asp3003Asn						p.D3003N	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	9019	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3003			Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9007G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367829	0.95900	.	.	ENSG00000086570	ENST00000261800	T	0.03468	3.92	5.12	5.12	0.69794	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.24236	0.0587	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03773	-1.1005	10	0.52906	T	0.07	.	18.5669	0.91120	0.0:1.0:0.0:0.0	.	3003	Q9NYQ8	FAT2_HUMAN	N	3003	ENSP00000261800:D3003N	ENSP00000261800:D3003N	D	-	1	0	FAT2	150900353	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.755000	0.85180	2.401000	0.81631	0.462000	0.41574	GAC		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	166	0	0	0	1	0	27	166				
CERKL	375298	broad.mit.edu	37	2	182413296	182413296	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182413296T>G	ENST00000339098.5	-	9	1186	c.1187A>C	c.(1186-1188)aAc>aCc	p.N396T	CERKL_ENST00000374970.2_Missense_Mutation_p.N301T|CERKL_ENST00000410087.3_Missense_Mutation_p.N370T|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T|CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	396					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCAGAGCTGTTAAATGGTAA	0.303																																						ENST00000410087.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32						c.(1108-1110)aAc>aCc		ceramide kinase-like							104.0	102.0	102.0					2																	182413296		2203	4300	6503	SO:0001583	missense	0				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	g.chr2:182413296T>G	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1187A>C	2.37:g.182413296T>G	ENSP00000341159:p.Asn396Thr					CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000374970.2_Missense_Mutation_p.N301T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T|CERKL_ENST00000339098.5_Missense_Mutation_p.N396T	p.N370T	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		8	1209	-			396					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1109A>C	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813822	0.32053	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30714	2.33;2.56;1.55;2.56;1.52	5.58	0.573	0.17363	.	1.269650	0.04866	N	0.445003	T	0.20373	0.0490	L	0.34521	1.04	0.09310	N	1	B;P;B;B;B	0.38195	0.212;0.622;0.152;0.199;0.126	B;B;B;B;B	0.36092	0.055;0.217;0.116;0.117;0.035	T	0.15321	-1.0441	10	0.13470	T	0.59	.	4.6924	0.12786	0.1415:0.3046:0.0:0.5539	.	352;257;301;370;396	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	T	370;352;257;396;301	ENSP00000386725:N370T;ENSP00000387080:N352T;ENSP00000364108:N257T;ENSP00000341159:N396T;ENSP00000364109:N301T	ENSP00000341159:N396T	N	-	2	0	CERKL	182121541	0.000000	0.05858	0.012000	0.15200	0.977000	0.68977	0.544000	0.23253	0.071000	0.16664	0.533000	0.62120	AAC		0.303	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			27	146	0	0	0	1	0	27	146				
CCDC65	85478	broad.mit.edu	37	12	49312112	49312112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312112C>T	ENST00000320516.4	+	5	852	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CCDC65_ENST00000266984.5_Silent_p.L222L|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	222										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGTAGAAGATCTGTGGAGAAA	0.433																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(664-666)Ctg>Ttg		coiled-coil domain containing 65							125.0	124.0	124.0					12																	49312112		2203	4300	6503	SO:0001819	synonymous_variant	85478							g.chr12:49312112C>T		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.664C>T	12.37:g.49312112C>T						ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L222L	p.L222L			Q8IXS2	CCD65_HUMAN			5	891	+			222					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	37	c.664C>T	CCDS8772.1																																																																																				0.433	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		105	426	0	0	0	1	0	105	426				
OARD1	221443	broad.mit.edu	37	6	41036622	41036622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41036622G>A	ENST00000479950.1	-	5	627	c.314C>T	c.(313-315)tCt>tTt	p.S105F	OARD1_ENST00000424266.2_Missense_Mutation_p.S105F|OARD1_ENST00000467234.1_5'Flank|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.S66F|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000463088.1_Missense_Mutation_p.S105F|OARD1_ENST00000468811.1_Missense_Mutation_p.S105F			Q9Y530	OARD1_HUMAN	O-acyl-ADP-ribose deacylase 1	105	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				purine nucleoside metabolic process (GO:0042278)		deacetylase activity (GO:0019213)|purine nucleoside binding (GO:0001883)										CAGACAATGAGACTTCATTGC	0.398																																						ENST00000479950.1																			0											c.(313-315)tCt>tTt		O-acyl-ADP-ribose deacylase 1							114.0	112.0	112.0					6																	41036622		2203	4300	6503	SO:0001583	missense	221443							g.chr6:41036622G>A	AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596			21257	protein-coding gene	gene with protein product	"""terminal ADP-ribose protein glycohydrolase 1"""	614393	"""chromosome 6 open reading frame 130"""	C6orf130		21849506	Standard	NM_145063		Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000479950.1:c.314C>T	6.37:g.41036622G>A	ENSP00000420484:p.Ser105Phe					OARD1_ENST00000373154.2_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.S66F|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.S105F|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000424266.2_Missense_Mutation_p.S105F|OARD1_ENST00000463088.1_Missense_Mutation_p.S105F	p.S105F							5	627	-								A6NEK4|A8K4H4|Q96F23	Missense_Mutation	SNP	ENST00000479950.1	37	c.314C>T	CCDS34445.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960470	0.53400	.	.	ENSG00000124596	ENST00000479950;ENST00000463088;ENST00000424266;ENST00000468811;ENST00000486443;ENST00000488238	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	6.08	3.27	0.37495	Appr-1-p processing (2);	0.444150	0.26424	N	0.024442	T	0.11239	0.0274	L	0.56769	1.78	0.80722	D	1	P	0.36222	0.544	B	0.30646	0.118	T	0.03166	-1.1065	10	0.66056	D	0.02	0.0645	9.3006	0.37842	0.0723:0.2752:0.6525:0.0	.	105	Q9Y530	CF130_HUMAN	F	105;105;105;105;66;105	ENSP00000420484:S105F;ENSP00000420193:S105F;ENSP00000416829:S105F;ENSP00000420601:S105F;ENSP00000419175:S66F;ENSP00000420414:S105F	ENSP00000416829:S105F	S	-	2	0	C6orf130	41144600	0.911000	0.30947	0.998000	0.56505	0.998000	0.95712	1.600000	0.36762	0.424000	0.26061	0.655000	0.94253	TCT		0.398	OARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040494.2	NM_145063		27	148	0	0	0	1	0	27	148				
ELTD1	64123	broad.mit.edu	37	1	79356886	79356886	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79356886A>G	ENST00000370742.3	-	15	2089	c.2026T>C	c.(2026-2028)Tac>Cac	p.Y676H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	676					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AACAATCTGTAATATTCTTCT	0.264																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(2026-2028)Tac>Cac		EGF, latrophilin and seven transmembrane domain containing 1							77.0	69.0	71.0					1																	79356886		1784	4048	5832	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79356886A>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.2026T>C	1.37:g.79356886A>G	ENSP00000359778:p.Tyr676His						p.Y676H	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	15	2089	-			676					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.2026T>C	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971281	0.34754	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.42131	0.98;0.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.36672	1.1	0.45852	D	0.998713	B	0.20164	0.042	B	0.26094	0.066	T	0.08472	-1.0720	9	.	.	.	.	9.2697	0.37664	0.919:0.0:0.081:0.0	.	676	Q9HBW9	ELTD1_HUMAN	H	676;134	ENSP00000359778:Y676H;ENSP00000383813:Y134H	.	Y	-	1	0	ELTD1	79129474	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	3.996000	0.57009	2.035000	0.60131	0.533000	0.62120	TAC		0.264	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		25	147	0	0	0	1	0	25	147				
SPTA1	6708	broad.mit.edu	37	1	158641181	158641181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158641181C>T	ENST00000368147.4	-	12	1731	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	517					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTCTTCATGCTTCTGAAGAA	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1549-1551)aaG>aaA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							118.0	111.0	113.0					1																	158641181		1869	4090	5959	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641181C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1551G>A	1.37:g.158641181C>T						SPTA1_ENST00000368147.3_Silent_p.K517K	p.K517K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			12	1731	-	all_hematologic(112;0.0378)		517					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1551G>A	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		63	175	0	0	0	1	0	63	175				
HMG20A	10363	broad.mit.edu	37	15	77769918	77769918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77769918C>T	ENST00000381714.3	+	8	1065	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	213					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTAAAGGAACGGTCTGTTTT	0.333																																						ENST00000381714.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(637-639)Cgg>Tgg		high mobility group 20A							82.0	82.0	82.0					15																	77769918		2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77769918C>T	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.637C>T	15.37:g.77769918C>T	ENSP00000371133:p.Arg213Trp					HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	p.R213W	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN			8	1065	+			213					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.637C>T	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446283	0.63178	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.69435	-0.4;-0.4	6.04	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.60455	1.87	0.58432	D	0.999999	D	0.71674	0.998	P	0.60286	0.872	T	0.73263	-0.4038	10	0.37606	T	0.19	-15.2639	12.498	0.55940	0.561:0.439:0.0:0.0	.	213	Q9NP66	HM20A_HUMAN	W	213	ENSP00000336856:R213W;ENSP00000371133:R213W	ENSP00000336856:R213W	R	+	1	2	HMG20A	75556973	1.000000	0.71417	0.908000	0.35775	0.993000	0.82548	3.834000	0.55798	1.525000	0.49052	0.563000	0.77884	CGG		0.333	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		7	166	0	0	0	1	0	7	166				
EDIL3	10085	broad.mit.edu	37	5	83549944	83549944	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83549944C>A	ENST00000296591.5	-	2	572	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	52	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTGAAGCCATCTGGACACTCA	0.393																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(154-156)Gat>Tat		EGF-like repeats and discoidin I-like domains 3							92.0	83.0	86.0					5																	83549944		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83549944C>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.154G>T	5.37:g.83549944C>A	ENSP00000296591:p.Asp52Tyr					EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	p.D52Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	2	572	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	52			EGF-like 1.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.154G>T	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564227	0.45694	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.92397	-3.03;-3.03	5.61	5.61	0.85477	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.382799	0.21161	N	0.079154	D	0.94155	0.8125	L	0.43923	1.385	0.27100	N	0.962635	B;B	0.29955	0.115;0.263	B;P	0.52514	0.086;0.701	D	0.90169	0.4234	10	0.72032	D	0.01	-12.6903	15.7408	0.77894	0.0:0.8635:0.1365:0.0	.	52;52	O43854-2;O43854	.;EDIL3_HUMAN	Y	52	ENSP00000296591:D52Y;ENSP00000369483:D52Y	ENSP00000296591:D52Y	D	-	1	0	EDIL3	83585700	0.994000	0.37717	0.983000	0.44433	0.948000	0.59901	2.320000	0.43797	2.642000	0.89623	0.650000	0.86243	GAT		0.393	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		23	226	1	0	9.57634e-11	1	1.01752e-10	23	226				
LIG4	3981	broad.mit.edu	37	13	108861101	108861101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861101G>T	ENST00000356922.4	-	2	2788	c.2516C>A	c.(2515-2517)gCt>gAt	p.A839D	LIG4_ENST00000405925.1_Missense_Mutation_p.A839D|LIG4_ENST00000442234.1_Missense_Mutation_p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	839	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGCTTTAATAGCTAACCTTGT	0.423								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2515-2517)gCt>gAt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							101.0	98.0	99.0					13																	108861101		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861101G>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2516C>A	13.37:g.108861101G>T	ENSP00000349393:p.Ala839Asp					LIG4_ENST00000442234.1_Missense_Mutation_p.A839D|LIG4_ENST00000405925.1_Missense_Mutation_p.A839D	p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2788	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		839			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2516C>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011445	0.07912	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61859	0.07;0.07;0.07	5.75	4.0	0.46444	BRCT (3);	0.685891	0.14801	N	0.297615	T	0.39733	0.1089	L	0.35414	1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.27297	-1.0078	10	0.11485	T	0.65	.	5.5759	0.17222	0.075:0.1454:0.638:0.1415	.	839	P49917	DNLI4_HUMAN	D	839	ENSP00000385955:A839D;ENSP00000402030:A839D;ENSP00000349393:A839D	ENSP00000349393:A839D	A	-	2	0	LIG4	107659102	0.868000	0.29978	0.181000	0.23098	0.713000	0.41058	1.955000	0.40372	0.769000	0.33313	0.567000	0.79289	GCT		0.423	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		59	305	1	0	2.23044e-30	1	2.6157e-30	59	305				
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	327					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587																																					Ovarian(166;154 1953 40235 46283 46309)	ENST00000399138.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10						c.(979-981)cGc>cAc		alkB, alkylation repair homolog 5 (E. coli)							143.0	148.0	146.0					17																	18110257		1940	4129	6069	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18110257G>A	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.980G>A	17.37:g.18110257G>A	ENSP00000382091:p.Arg327His					ALKBH5_ENST00000541285.1_5'UTR	p.R327H	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN			3	985	+	all_neural(463;0.228)		327					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.980G>A	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320389	0.95682	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.68265	-0.5454	9	0.72032	D	0.01	-20.6427	19.5182	0.95174	0.0:0.0:1.0:0.0	.	327	Q6P6C2-2	.	H	327;316;327	.	ENSP00000261650:R327H	R	+	2	0	ALKBH5	18050982	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.172000	0.89677	2.618000	0.88619	0.655000	0.94253	CGC		0.587	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		199	986	0	0	0	1	0	199	986				
ARG2	384	broad.mit.edu	37	14	68113681	68113681	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68113681G>T	ENST00000261783.3	+	6	841	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	221					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.D221Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCCATGAGAGATATTGATCG	0.353																																						ENST00000261783.3																			1	Substitution - Missense(1)	p.D221Y(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.(661-663)Gat>Tat		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						96.0	93.0	94.0					14																	68113681		2203	4300	6503	SO:0001583	missense	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68113681G>T	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.661G>T	14.37:g.68113681G>T	ENSP00000261783:p.Asp221Tyr						p.D221Y	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	6	841	+			221					B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	c.661G>T	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335165	0.81801	.	.	ENSG00000081181	ENST00000261783	D	0.86432	-2.12	6.17	6.17	0.99709	Ureohydrolase domain (1);	0.127366	0.64402	D	0.000001	D	0.92734	0.7690	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92752	0.6217	10	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	221	P78540	ARGI2_HUMAN	Y	221	ENSP00000261783:D221Y	ENSP00000261783:D221Y	D	+	1	0	ARG2	67183434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.527000	0.73803	2.941000	0.99782	0.655000	0.94253	GAT		0.353	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		56	291	1	0	1.19403e-26	1	1.3775e-26	56	291				
SEC14L3	266629	broad.mit.edu	37	22	30857366	30857366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30857366G>A	ENST00000215812.4	-	11	1102	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000403066.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	338	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGCTGGCTGGGTAGAACATCT	0.607																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(835-837)Ccc>Tcc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						81.0	76.0	78.0					22																	30857366		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30857366G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1012C>T	22.37:g.30857366G>A	ENSP00000215812:p.Pro338Ser					SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000215812.4_Missense_Mutation_p.P338S	p.P279S			Q9UDX4	S14L3_HUMAN			12	1118	-			338			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.835C>T	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709032	0.30322	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.67	-11.3	0.00108	GOLD (2);	0.636283	0.17380	N	0.176340	T	0.32285	0.0824	M	0.64170	1.965	0.38285	D	0.94253	B;B	0.21147	0.052;0.026	B;B	0.19148	0.024;0.024	T	0.14282	-1.0478	10	0.52906	T	0.07	-0.6816	7.647	0.28325	0.0575:0.4521:0.1795:0.311	.	261;338	E9PE57;Q9UDX4	.;S14L3_HUMAN	S	279;279;338;261;279;279;261	ENSP00000385941:P279S;ENSP00000401864:P279S;ENSP00000215812:P338S;ENSP00000385004:P261S;ENSP00000383896:P279S;ENSP00000444691:P279S;ENSP00000439752:P261S	ENSP00000215812:P338S	P	-	1	0	SEC14L3	29187366	0.000000	0.05858	0.018000	0.16275	0.652000	0.38707	-0.852000	0.04308	-1.970000	0.01003	0.655000	0.94253	CCC		0.607	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		77	358	0	0	0	1	0	77	358				
KCNA3	3738	broad.mit.edu	37	1	111216303	111216303	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216303G>A	ENST00000369769.2	-	1	1352	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	377					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGGCGCGACAGCTTGAAGATG	0.597																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1129-1131)Ctg>Ttg		potassium voltage-gated channel, shaker-related subfamily, member 3							111.0	111.0	111.0					1																	111216303		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216303G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1129C>T	1.37:g.111216303G>A							p.L377L	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1352	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	377					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.1129C>T	CCDS828.2																																																																																				0.597	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		50	510	0	0	0	1	0	50	510				
SLCO3A1	28232	broad.mit.edu	37	15	92459545	92459545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459545G>A	ENST00000318445.6	+	2	717	c.503G>A	c.(502-504)cGc>cAc	p.R168H	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	168				R -> L (in Ref. 7; AAH00585). {ECO:0000305}.	sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTCATCTGCCGCAACCGGACG	0.701																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(502-504)cGc>cAc		solute carrier organic anion transporter family, member 3A1							18.0	16.0	17.0					15																	92459545		2190	4289	6479	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459545G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.503G>A	15.37:g.92459545G>A	ENSP00000320634:p.Arg168His					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168H	p.R168H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	717	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		168	R -> L (in Ref. 7; AAH00585).				A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.503G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107290	0.56291	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.39406	1.08;1.08;1.08	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.639808	0.16773	N	0.200114	T	0.32823	0.0842	N	0.11724	0.165	0.80722	D	1	P;D;B	0.59767	0.945;0.986;0.165	B;P;B	0.44696	0.258;0.458;0.046	T	0.27226	-1.0080	10	0.48119	T	0.1	.	18.0315	0.89286	0.0:0.0:1.0:0.0	.	110;168;168	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	H	168;168;110	ENSP00000320634:R168H;ENSP00000387846:R168H;ENSP00000450559:R110H	ENSP00000320634:R168H	R	+	2	0	SLCO3A1	90260549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.999000	0.63934	2.510000	0.84645	0.655000	0.94253	CGC		0.701	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		16	56	0	0	0	1	0	16	56				
RAD50	10111	broad.mit.edu	37	5	131945022	131945022	+	Silent	SNP	C	C	T	rs375264148		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131945022C>T	ENST00000265335.6	+	19	3357	c.2970C>T	c.(2968-2970)tgC>tgT	p.C990C	RAD50_ENST00000378823.3_Silent_p.C851C			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	990					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAGTGAATGCGAGAAACACA	0.289								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2551-2553)tgC>tgT	Homologous recombination	RAD50 homolog (S. cerevisiae)		C		0,4406		0,0,2203	68.0	66.0	67.0		2970	-2.2	1.0	5		67	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	RAD50	NM_005732.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		990/1313	131945022	1,12993	2203	4294	6497	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131945022C>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2970C>T	5.37:g.131945022C>T						RAD50_ENST00000265335.6_Silent_p.C990C	p.C851C	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		19	3371	+		all_cancers(142;0.0368)|Breast(839;0.198)	990					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.2553C>T	CCDS34233.1																																																																																				0.289	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		5	194	0	0	0	1	0	5	194				
SLCO5A1	81796	broad.mit.edu	37	8	70744437	70744437	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744437T>C	ENST00000260126.4	-	2	1178	c.472A>G	c.(472-474)Agg>Ggg	p.R158G	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTGTAGCGCCTTTCAATGGTG	0.562											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(472-474)Agg>Ggg		solute carrier organic anion transporter family, member 5A1							72.0	74.0	73.0					8																	70744437		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744437T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.472A>G	8.37:g.70744437T>C	ENSP00000260126:p.Arg158Gly		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000528658.1_5'UTR	p.R158G	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1178	-	Breast(64;0.0654)		158					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.472A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799510	0.70567	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.53857	0.6;0.6;0.6	5.71	3.12	0.35913	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.101427	0.64402	D	0.000003	T	0.62624	0.2443	M	0.63843	1.955	0.37875	D	0.930193	P;D;P;P	0.55172	0.775;0.97;0.775;0.734	P;P;P;P	0.56563	0.697;0.801;0.601;0.571	T	0.70506	-0.4853	10	0.87932	D	0	.	12.6192	0.56594	0.0:0.0:0.3868:0.6132	.	158;158;158;158	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	G	158	ENSP00000260126:R158G;ENSP00000434422:R158G;ENSP00000431611:R158G	ENSP00000260126:R158G	R	-	1	2	SLCO5A1	70906991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.455000	0.52993	0.950000	0.37743	0.459000	0.35465	AGG		0.562	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		6	264	0	0	0	1	0	6	264				
DSG3	1830	broad.mit.edu	37	18	29055872	29055872	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29055872C>A	ENST00000257189.4	+	16	2732	c.2649C>A	c.(2647-2649)tcC>tcA	p.S883S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	883					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGATTGAATCCTGTGGCCATC	0.473																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2647-2649)tcC>tcA		desmoglein 3							123.0	121.0	122.0					18																	29055872		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055872C>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2649C>A	18.37:g.29055872C>A							p.S883S	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2732	+			883					A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2649C>A	CCDS11898.1																																																																																				0.473	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		97	425	1	0	7.30829e-53	1	9.0986e-53	97	425				
AFF1	4299	broad.mit.edu	37	4	88036157	88036157	+	Silent	SNP	C	C	T	rs367686961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88036157C>T	ENST00000307808.6	+	11	2571	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	AFF1_ENST00000544085.1_Silent_p.S355S|AFF1_ENST00000395146.4_Silent_p.S724S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	717					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACAGTGGCAGCGGCAGCAGGA	0.622																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2149-2151)agC>agT		AF4/FMR2 family, member 1		T	,	0,4406		0,0,2203	33.0	38.0	36.0		2172,2151	-3.2	0.0	4		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFF1	NM_001166693.1,NM_005935.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	724/1219,717/1211	88036157	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036157C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2151C>T	4.37:g.88036157C>T						AFF1_ENST00000544085.1_Silent_p.S355S|AFF1_ENST00000395146.4_Silent_p.S724S	p.S717S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2571	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	717					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.2151C>T	CCDS3616.1																																																																																				0.622	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		47	205	0	0	0	1	0	47	205				
PAM	5066	broad.mit.edu	37	5	102364643	102364643	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102364643C>A	ENST00000438793.3	+	25	3266	c.2796C>A	c.(2794-2796)ggC>ggA	p.G932G	PAM_ENST00000304400.7_Silent_p.G933G|PAM_ENST00000455264.2_Silent_p.G864G|PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000379787.4_Silent_p.G294G	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	932	Interaction with RASSF9. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCCGTAAGGGCTACAGTCGAA	0.448																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(2794-2796)ggC>ggA		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						114.0	112.0	113.0					5																	102364643		2203	4300	6503	SO:0001819	synonymous_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102364643C>A	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2796C>A	5.37:g.102364643C>A						PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000455264.2_Silent_p.G864G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000304400.7_Silent_p.G933G|PAM_ENST00000379787.4_Silent_p.G294G	p.G932G	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	25	3266	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	932			Interaction with RASSF9 (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	37	c.2796C>A	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.725|3.725	-0.056777|-0.056777	0.07362|0.07362	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000504691|ENST00000379799	.|.	.|.	.|.	6.03|6.03	0.07|0.07	0.14376|0.14376	.|.	.|.	.|.	.|.	.|.	T|T	0.54208|0.54208	0.1844|0.1844	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42749|0.42749	-0.9433|-0.9433	4|4	.|.	.|.	.|.	.|.	7.9509|7.9509	0.30014|0.30014	0.0959:0.5577:0.0:0.3464|0.0959:0.5577:0.0:0.3464	.|.	.|.	.|.	.|.	D|I	209|638	.|.	.|.	A|L	+|+	2|1	0|2	PAM|PAM	102392542|102392542	0.988000|0.988000	0.35896|0.35896	0.976000|0.976000	0.42696|0.42696	0.733000|0.733000	0.41908|0.41908	0.278000|0.278000	0.18753|0.18753	-0.258000|-0.258000	0.09446|0.09446	-0.797000|-0.797000	0.03246|0.03246	GCT|CTA		0.448	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		53	257	1	0	2.78941e-39	1	3.37203e-39	53	257				
LMX1A	4009	broad.mit.edu	37	1	165173188	165173188	+	Missense_Mutation	SNP	G	G	A	rs553925894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165173188G>A	ENST00000342310.3	-	9	1460	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	LMX1A_ENST00000294816.2_Missense_Mutation_p.P360S|LMX1A_ENST00000367893.4_Missense_Mutation_p.P360S|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	360					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GACTGCAGAGGCCCAGCTTCT	0.517																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(1078-1080)Cct>Tct		LIM homeobox transcription factor 1, alpha							107.0	106.0	106.0					1																	165173188		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165173188G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.1078C>T	1.37:g.165173188G>A	ENSP00000340226:p.Pro360Ser					LMX1A_ENST00000367893.4_Missense_Mutation_p.P360S|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.P360S	p.P360S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			9	1460	-	all_hematologic(923;0.248)		360					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.1078C>T	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445320	0.04604	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.85484	-1.99;-1.99;-1.99	5.14	4.23	0.50019	.	0.226533	0.46758	D	0.000266	T	0.41236	0.1150	N	0.02539	-0.55	0.42593	D	0.993256	B	0.14438	0.01	B	0.09377	0.004	T	0.17258	-1.0375	9	0.13853	T	0.58	.	6.621	0.22802	0.1581:0.1485:0.6935:0.0	.	360	Q8TE12	LMX1A_HUMAN	S	360	ENSP00000340226:P360S;ENSP00000294816:P360S;ENSP00000356868:P360S	ENSP00000294816:P360S	P	-	1	0	LMX1A	163439812	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.203000	0.58453	1.392000	0.46585	0.561000	0.74099	CCT		0.517	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		13	506	0	0	0	1	0	13	506				
NBEAL2	23218	broad.mit.edu	37	3	47040450	47040450	+	Splice_Site	SNP	C	C	T	rs568496511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47040450C>T	ENST00000450053.3	+	24	3565	c.3386C>T	c.(3385-3387)gCg>gTg	p.A1129V	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1129					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATCCCCAGGCGGTGGGTGCG	0.657											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1	0.000199681	0.0	0.0	5008	,	,		16414	0.001		0.0	False		,,,				2504	0.0					ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e24-1		neurobeachin-like 2							35.0	42.0	39.0					3																	47040450		2158	4244	6402	SO:0001630	splice_region_variant	23218						binding	g.chr3:47040450C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3385-1C>T	3.37:g.47040450C>T			OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	p.A1129_splice	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	24	3565	+		Acute lymphoblastic leukemia(5;0.0534)	1129					O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	37	c.3384_splice	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	T	0.046	-1.267371	0.01433	.	.	ENSG00000160796	ENST00000450053	T	0.20332	2.08	5.29	2.92	0.33932	.	.	.	.	.	T	0.04272	0.0118	N	0.00436	-1.5	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30563	-0.9974	9	0.05959	T	0.93	.	7.3518	0.26695	0.0:0.2562:0.0:0.7438	.	1129	Q6ZNJ1	NBEL2_HUMAN	V	1129	ENSP00000415034:A1129V	ENSP00000415034:A1129V	A	+	2	0	NBEAL2	47015454	0.954000	0.32549	0.874000	0.34290	0.113000	0.19764	1.301000	0.33447	0.425000	0.26087	-0.361000	0.07541	GCG		0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	Missense_Mutation	14	48	0	0	0	1	0	14	48				
ZNF707	286075	broad.mit.edu	37	8	144776463	144776463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144776463C>T	ENST00000532205.1	+	8	1778	c.879C>T	c.(877-879)tgC>tgT	p.C293C	ZNF707_ENST00000418203.2_Silent_p.C293C|ZNF707_ENST00000532158.1_Silent_p.C293C|ZNF707_ENST00000454097.1_Silent_p.C293C|ZNF707_ENST00000358656.4_Silent_p.C293C|RP11-429J17.2_ENST00000531565.1_RNA			Q96C28	ZN707_HUMAN	zinc finger protein 707	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGCGGACTGCGGCAAAGCCT	0.627																																						ENST00000532205.1																			0				breast(1)	1						c.(877-879)tgC>tgT		zinc finger protein 707							28.0	35.0	33.0					8																	144776463		2169	4277	6446	SO:0001819	synonymous_variant	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776463C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.879C>T	8.37:g.144776463C>T						ZNF707_ENST00000358656.4_Silent_p.C293C|ZNF707_ENST00000454097.1_Silent_p.C293C|ZNF707_ENST00000532158.1_Silent_p.C293C|ZNF707_ENST00000418203.2_Silent_p.C293C	p.C293C			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1778	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		293					A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	c.879C>T	CCDS47932.1																																																																																				0.627	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		22	88	0	0	0	1	0	22	88				
CTPS1	1503	broad.mit.edu	37	1	41466775	41466775	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41466775G>A	ENST00000372621.4	+	10	1588	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	CTPS1_ENST00000372616.1_Silent_p.K360K|CTPS1_ENST00000541520.1_Silent_p.K129K	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CTTGGCAGAAGCTCTGTAGTG	0.478																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1078-1080)aaG>aaA		CTP synthase 1	L-Glutamine(DB00130)						72.0	66.0	68.0					1																	41466775		2203	4300	6503	SO:0001819	synonymous_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41466775G>A	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1080G>A	1.37:g.41466775G>A						CTPS1_ENST00000372616.1_Silent_p.K360K|CTPS1_ENST00000541520.1_Silent_p.K129K	p.K360K	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			10	1588	+			360			Glutamine amidotransferase type-1.			Silent	SNP	ENST00000372621.4	37	c.1080G>A	CCDS459.1																																																																																				0.478	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		44	148	0	0	0	1	0	44	148				
NT5M	56953	broad.mit.edu	37	17	17250251	17250251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17250251G>A	ENST00000389022.4	+	5	893	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	226					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACAGCAAGCGGCCCTGCTGA	0.682																																						ENST00000389022.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(676-678)cGg>cAg		5',3'-nucleotidase, mitochondrial							37.0	44.0	41.0					17																	17250251		2203	4300	6503	SO:0001583	missense	56953				DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	g.chr17:17250251G>A	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"""5' nucleotidase, mitochondrial"""			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.677G>A	17.37:g.17250251G>A	ENSP00000373674:p.Arg226Gln					NT5M_ENST00000582909.1_3'UTR	p.R226Q	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN			5	893	+			226						Missense_Mutation	SNP	ENST00000389022.4	37	c.677G>A	CCDS32581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.030203|5.030203	0.93575|0.93575	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000446264|ENST00000389022	.|T	.|0.46451	.|0.87	5.79|5.79	5.79|5.79	0.91817|0.91817	.|HAD-like domain (2);	0.238680|.	0.46758|.	D|.	0.000264|.	T|T	0.66479|0.66479	0.2793|0.2793	M|M	0.75447|0.75447	2.3|2.3	0.30268|0.30268	N|N	0.792551|0.792551	D|D;D	0.76494|0.89917	0.999|1.0;1.0	P|D;D	0.59115|0.97110	0.852|0.99;1.0	T|T	0.66968|0.66968	-0.5789|-0.5789	9|9	0.87932|0.87932	D|D	0|0	-6.3164|-6.3164	16.7638|16.7638	0.85519|0.85519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	225|232;226	F6S3X3|Q2I378;Q9NPB1	.|.;NT5M_HUMAN	S|Q	225|226	.|ENSP00000373674:R226Q	ENSP00000390695:G225S|ENSP00000373674:R226Q	G|R	+|+	1|2	0|0	NT5M|NT5M	17190976|17190976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.604000|0.604000	0.37047|0.37047	8.364000|8.364000	0.90105|0.90105	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.682	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			42	241	0	0	0	1	0	42	241				
MOGS	7841	broad.mit.edu	37	2	74689272	74689272	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74689272G>T	ENST00000233616.4	-	4	1806	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.L442L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	548					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCTCTGATGGAGCCAGGAAA	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1642-1644)ctC>ctA		mannosyl-oligosaccharide glucosidase							83.0	91.0	89.0					2																	74689272		1942	4133	6075	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689272G>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1644C>A	2.37:g.74689272G>T						MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.L442L	p.L548L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1806	-			548					A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	37	c.1644C>A	CCDS42700.1																																																																																				0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		131	694	1	0	9.186e-65	1	1.16102e-64	131	694				
VIPR2	7434	broad.mit.edu	37	7	158851209	158851209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158851209A>G	ENST00000262178.2	-	5	603	c.418T>C	c.(418-420)Tct>Cct	p.S140P	VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P|VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	140					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTTGCAAGAGACATCAGAGAG	0.408																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(418-420)Tct>Cct		vasoactive intestinal peptide receptor 2							169.0	163.0	165.0					7																	158851209		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158851209A>G	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.418T>C	7.37:g.158851209A>G	ENSP00000262178:p.Ser140Pro					VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P|VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P	p.S140P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	5	603	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	140					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.418T>C	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.050923	0.75960	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.37915	1.17;1.17;1.17	5.7	4.59	0.56863	GPCR, family 2-like (1);	0.122369	0.36066	N	0.002805	T	0.49047	0.1534	M	0.89968	3.075	0.80722	D	1	P	0.45078	0.85	P	0.45506	0.483	T	0.57974	-0.7718	9	.	.	.	.	8.8834	0.35389	0.7551:0.2449:0.0:0.0	.	140	P41587	VIPR2_HUMAN	P	140;124;281	ENSP00000262178:S140P;ENSP00000366860:S124P;ENSP00000384497:S281P	.	S	-	1	0	VIPR2	158543970	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	2.922000	0.48860	2.175000	0.68902	0.529000	0.55759	TCT		0.408	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		104	527	0	0	0	1	0	104	527				
CXCR4	7852	broad.mit.edu	37	2	136872944	136872944	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872944A>C	ENST00000241393.3	-	2	658	c.554T>G	c.(553-555)aTc>aGc	p.I185S	CXCR4_ENST00000409817.1_Missense_Mutation_p.I189S|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	185					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GCGGTCACAGATATATCTGTC	0.512																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(565-567)aTc>aGc		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						133.0	119.0	123.0					2																	136872944		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872944A>C	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.554T>G	2.37:g.136872944A>C	ENSP00000241393:p.Ile185Ser					CXCR4_ENST00000241393.3_Missense_Mutation_p.I185S|CXCR4_ENST00000466288.1_5'UTR	p.I189S	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	869	-			185			Chemokine binding, important for signaling and HIV-1 coreceptor activity.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.566T>G	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733907	0.30684	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.35973	1.28;1.28	6.17	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.939982	0.09064	N	0.853828	T	0.32406	0.0828	N	0.26162	0.8	0.50467	D	0.999876	B;D	0.57899	0.376;0.981	P;P	0.46110	0.479;0.504	T	0.00867	-1.1534	10	0.24483	T	0.36	.	12.2882	0.54803	0.9345:0.0:0.0655:0.0	.	185;189	P61073;P61073-2	CXCR4_HUMAN;.	S	189;185;55	ENSP00000386884:I189S;ENSP00000241393:I185S	ENSP00000241393:I185S	I	-	2	0	CXCR4	136589414	0.962000	0.33011	0.834000	0.33040	0.470000	0.32858	6.178000	0.71968	1.161000	0.42604	-0.250000	0.11733	ATC		0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			18	437	0	0	0	1	0	18	437				
PBX1	5087	broad.mit.edu	37	1	164761883	164761883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164761883G>T	ENST00000420696.2	+	3	606	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	PBX1_ENST00000367897.1_Missense_Mutation_p.G140C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000540246.1_Missense_Mutation_p.G35C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	140					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGGAGGGGCAGGTTCAGACAA	0.602			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(418-420)Ggt>Tgt		pre-B-cell leukemia homeobox 1							24.0	30.0	28.0					1																	164761883		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761883G>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.418G>T	1.37:g.164761883G>T	ENSP00000405890:p.Gly140Cys					PBX1_ENST00000540246.1_Missense_Mutation_p.G35C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000367897.1_Missense_Mutation_p.G140C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C	p.G140C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			3	606	+			140					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.418G>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460001	0.84317	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;D;D;D;D;D	0.89552	0.82;-2.43;-2.3;-2.44;-2.3;-2.53	5.23	5.23	0.72850	PBX (1);	0.048778	0.85682	D	0.000000	D	0.89476	0.6726	L	0.46157	1.445	0.09310	N	1.0	P;P;P;P;P	0.48089	0.783;0.633;0.905;0.755;0.865	P;P;P;P;P	0.55667	0.684;0.726;0.605;0.726;0.781	D	0.89976	0.4097	9	0.54805	T	0.06	-8.2112	18.3959	0.90497	0.0:0.0:1.0:0.0	.	35;140;140;140;140	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	C	140;140;140;140;140;35	ENSP00000341455:G140C;ENSP00000405890:G140C;ENSP00000356872:G140C;ENSP00000439943:G140C;ENSP00000384856:G140C;ENSP00000440869:G35C	ENSP00000341455:G140C	G	+	1	0	PBX1	163028507	1.000000	0.71417	0.823000	0.32752	0.934000	0.57294	4.592000	0.61027	2.405000	0.81733	0.563000	0.77884	GGT		0.602	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		86	207	1	0	2.67039e-37	1	3.20554e-37	86	207				
BOD1L1	259282	broad.mit.edu	37	4	13600913	13600913	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13600913A>G	ENST00000040738.5	-	10	7746	c.7611T>C	c.(7609-7611)gaT>gaC	p.D2537D		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2537						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTGGCATGTCATCAGCTTTTA	0.512											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7609-7611)gaT>gaC		biorientation of chromosomes in cell division 1-like 1							73.0	62.0	66.0					4																	13600913		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13600913A>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7611T>C	4.37:g.13600913A>G			OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.D2537D	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7746	-			2537					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7611T>C	CCDS3411.2																																																																																				0.512	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		22	89	0	0	0	1	0	22	89				
F2RL1	2150	broad.mit.edu	37	5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1018-1020)Gac>Aac		coagulation factor II (thrombin) receptor-like 1							370.0	362.0	365.0					5																	76129450		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129450G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1018G>A	5.37:g.76129450G>A	ENSP00000296677:p.Asp340Asn						p.D340N	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1224	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	340					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1018G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322223	0.95708	.	.	ENSG00000164251	ENST00000296677	T	0.53857	0.6	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72010	-0.4419	9	.	.	.	-37.5292	19.6481	0.95790	0.0:0.0:1.0:0.0	.	340	P55085	PAR2_HUMAN	N	340	ENSP00000296677:D340N	.	D	+	1	0	F2RL1	76165206	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	9.808000	0.99193	2.644000	0.89710	0.655000	0.94253	GAC		0.473	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			452	1974	0	0	0	1	0	452	1974				
SAR1B	51128	broad.mit.edu	37	5	133948441	133948441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133948441C>T	ENST00000402673.2	-	4	462	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	SAR1B_ENST00000507419.1_5'UTR|SAR1B_ENST00000509937.1_5'UTR|SAR1B_ENST00000439578.1_Missense_Mutation_p.E62K|SAR1B_ENST00000502539.1_5'UTR	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	62					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)|GTP catabolic process (GO:0006184)|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)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCAGTTCTTCGGAAGCTAAA	0.289																																						ENST00000402673.2																			0				kidney(2)|lung(2)|urinary_tract(1)	5						c.(184-186)Gaa>Aaa		SAR1 homolog B (S. cerevisiae)							62.0	70.0	67.0					5																	133948441		2202	4299	6501	SO:0001583	missense	51128				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding	g.chr5:133948441C>T	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"""SAR1a gene homolog (S. cerevisiae) 2"", ""SAR1a gene homolog 2 (S. cerevisiae)"", ""SAR1 homolog B (S. cerevisiae)"""	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.184G>A	5.37:g.133948441C>T	ENSP00000385432:p.Glu62Lys					SAR1B_ENST00000507419.1_5'UTR|SAR1B_ENST00000509937.1_5'UTR|SAR1B_ENST00000502539.1_5'UTR|SAR1B_ENST00000439578.1_Missense_Mutation_p.E62K	p.E62K	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	462	-			62					D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	c.184G>A	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704646	0.96812	.	.	ENSG00000152700	ENST00000402673;ENST00000439578;ENST00000505758;ENST00000502286	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.044789	0.85682	D	0.000000	T	0.76263	0.3963	M	0.85777	2.775	0.80722	D	1	P	0.52692	0.955	P	0.45071	0.468	T	0.80607	-0.1307	10	0.66056	D	0.02	-15.0388	20.3932	0.98965	0.0:1.0:0.0:0.0	.	62	Q9Y6B6	SAR1B_HUMAN	K	62	ENSP00000385432:E62K;ENSP00000404997:E62K;ENSP00000425466:E62K;ENSP00000423005:E62K	ENSP00000385432:E62K	E	-	1	0	SAR1B	133976340	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.805000	0.86005	2.824000	0.97209	0.655000	0.94253	GAA		0.289	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		9	530	0	0	0	1	0	9	530				
ATP6AP1	537	broad.mit.edu	37	X	153663798	153663798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153663798C>A	ENST00000369762.2	+	9	1211	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	384					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTAGTCTCCTCGTGGCCCG	0.622																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1150-1152)Ctc>Atc		ATPase, H+ transporting, lysosomal accessory protein 1							56.0	49.0	51.0					X																	153663798		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663798C>A	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1150C>A	X.37:g.153663798C>A	ENSP00000358777:p.Leu384Ile						p.L384I	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			9	1211	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		384					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1150C>A	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195889	0.78902	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.69	4.81	0.61882	.	0.059264	0.64402	D	0.000001	T	0.79393	0.4438	M	0.82823	2.61	0.42872	D	0.994145	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81165	-0.1057	9	0.52906	T	0.07	-16.6749	12.5541	0.56244	0.1672:0.8328:0.0:0.0	.	344;384	B3KR70;Q15904	.;VAS1_HUMAN	I	384;208	.	ENSP00000358777:L384I	L	+	1	0	ATP6AP1	153316992	1.000000	0.71417	0.880000	0.34516	0.390000	0.30446	5.372000	0.66156	1.118000	0.41863	0.596000	0.82720	CTC		0.622	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		61	204	1	0	9.77497e-20	1	1.09193e-19	61	204				
PLCB2	5330	broad.mit.edu	37	15	40595493	40595493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40595493G>A	ENST00000260402.3	-	3	476	c.227C>T	c.(226-228)cCc>cTc	p.P76L	PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	76					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.P76L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACCTACCTTGGGCATCTTGGC	0.597																																						ENST00000260402.3																			1	Substitution - Missense(1)	p.P76L(1)	upper_aerodigestive_tract(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(226-228)cCc>cTc		phospholipase C, beta 2							93.0	92.0	92.0					15																	40595493		1986	4167	6153	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40595493G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.227C>T	15.37:g.40595493G>A	ENSP00000260402:p.Pro76Leu					PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L	p.P76L	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	3	476	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	76					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.227C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403713	0.83230	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.42513	0.97;0.97;0.97	4.53	3.61	0.41365	.	0.186336	0.47852	N	0.000216	T	0.62913	0.2467	M	0.75615	2.305	0.80722	D	1	D;P;D;D	0.89917	1.0;0.94;1.0;0.998	D;P;D;D	0.97110	0.999;0.885;1.0;0.967	T	0.67995	-0.5526	10	0.87932	D	0	.	13.0206	0.58784	0.0788:0.0:0.9212:0.0	.	76;76;76;76	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	L	76	ENSP00000260402:P76L;ENSP00000411991:P76L;ENSP00000444652:P76L	ENSP00000260402:P76L	P	-	2	0	PLCB2	38382785	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.386000	0.90166	1.253000	0.44018	0.655000	0.94253	CCC		0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			55	288	0	0	0	1	0	55	288				
SARDH	1757	broad.mit.edu	37	9	136573457	136573457	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136573457G>A	ENST00000371872.4	-	11	1679	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	SARDH_ENST00000422262.2_Silent_p.H306H|SARDH_ENST00000439388.1_Silent_p.H474H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	474					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGCTCATCGTGGGGGAAGA	0.662																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1420-1422)caC>caT		sarcosine dehydrogenase							93.0	93.0	93.0					9																	136573457		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573457G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1422C>T	9.37:g.136573457G>A						SARDH_ENST00000422262.2_Silent_p.H306H|SARDH_ENST00000439388.1_Silent_p.H474H	p.H474H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1679	-			474					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1422C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803202	0.16397	.	.	ENSG00000123453	ENST00000539227	.	.	.	5.16	0.649	0.17806	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-39.7047	9.7065	0.40218	0.4372:0.0:0.5628:0.0	.	.	.	.	X	474	.	ENSP00000441529:R474X	R	-	1	2	SARDH	135563278	0.907000	0.30839	1.000000	0.80357	0.714000	0.41099	0.095000	0.15127	0.201000	0.20466	-0.251000	0.11542	CGA		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			76	494	0	0	0	1	0	76	494				
CPT1B	1375	broad.mit.edu	37	22	51012041	51012041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012041C>A	ENST00000360719.2	-	10	1211	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	358					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTCCAGATCCTGAGGCTTGA	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1072-1074)caG>caT		carnitine palmitoyltransferase 1B (muscle)							53.0	52.0	53.0					22																	51012041		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51012041C>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1074G>T	22.37:g.51012041C>A	ENSP00000353945:p.Gln358His					CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H	p.Q358H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	10	1211	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	358					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1074G>T	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245331	0.22796	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;T;T;D	0.89415	-2.51;-2.51;-2.51;-1.37;-1.37;-2.51	5.27	-3.92	0.04155	.	0.547236	0.20178	N	0.097594	T	0.69931	0.3166	N	0.01464	-0.85	0.09310	N	0.999997	B;B;B	0.26775	0.083;0.159;0.159	B;B;B	0.42625	0.043;0.217;0.393	T	0.68021	-0.5519	10	0.14252	T	0.57	-3.961	3.712	0.08423	0.1123:0.1921:0.4703:0.2252	.	324;155;358	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	H	358;358;358;324;155;358	ENSP00000385486:Q358H;ENSP00000312189:Q358H;ENSP00000353945:Q358H;ENSP00000409342:Q324H;ENSP00000410966:Q155H;ENSP00000379011:Q358H	ENSP00000312189:Q358H	Q	-	3	2	CPT1B	49358907	0.000000	0.05858	0.061000	0.19648	0.902000	0.53008	-2.454000	0.01004	-0.741000	0.04797	0.555000	0.69702	CAG		0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		57	280	1	0	2.17126e-26	1	2.5019e-26	57	280				
ITGA1	3672	broad.mit.edu	37	5	52240794	52240794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52240794C>A	ENST00000282588.6	+	27	3765	c.3307C>A	c.(3307-3309)Ctt>Att	p.L1103I	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1103					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGCTTAAATCTTACTATAAG	0.328																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3307-3309)Ctt>Att		integrin, alpha 1							100.0	114.0	109.0					5																	52240794		2203	4299	6502	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52240794C>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3307C>A	5.37:g.52240794C>A	ENSP00000282588:p.Leu1103Ile					CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	p.L1103I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			27	3765	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	1103					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.3307C>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966775	0.53507	.	.	ENSG00000213949	ENST00000282588	T	0.50277	0.75	5.63	5.63	0.86233	.	0.058135	0.64402	D	0.000001	T	0.41581	0.1165	L	0.41079	1.255	0.41696	D	0.989375	P	0.48911	0.917	P	0.44447	0.45	T	0.14643	-1.0465	10	0.27082	T	0.32	.	12.5106	0.56003	0.1665:0.8335:0.0:0.0	.	1103	P56199	ITA1_HUMAN	I	1103	ENSP00000282588:L1103I	ENSP00000282588:L1103I	L	+	1	0	ITGA1	52276551	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.958000	0.40402	2.797000	0.96272	0.655000	0.94253	CTT		0.328	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		98	422	1	0	2.6418e-55	1	3.30104e-55	98	422				
FKBP15	23307	broad.mit.edu	37	9	115928378	115928378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115928378C>T	ENST00000238256.3	-	28	3757	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1214	Poly-Asp.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CAGTCAATGTCATCGTCATCA	0.527																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(3640-3642)Gac>Aac		FK506 binding protein 15, 133kDa							61.0	64.0	63.0					9																	115928378		2000	4183	6183	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115928378C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3640G>A	9.37:g.115928378C>T	ENSP00000238256:p.Asp1214Asn						p.D1214N	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			28	3757	-			1214			Poly-Asp.		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.3640G>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193798	0.94960	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.36157	1.27;1.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.56352	0.1979	L	0.51422	1.61	0.41849	D	0.990163	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.57100	-0.7869	9	0.87932	D	0	-9.6325	17.3254	0.87245	0.0:1.0:0.0:0.0	.	795;1214	B4DVS2;Q5T1M5	.;FKB15_HUMAN	N	1239;1214	ENSP00000416158:D1239N;ENSP00000238256:D1214N	ENSP00000238256:D1214N	D	-	1	0	FKBP15	114968199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.455000	0.60075	2.687000	0.91594	0.563000	0.77884	GAC		0.527	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		18	98	0	0	0	1	0	18	98				
CXXC1	30827	broad.mit.edu	37	18	47809894	47809894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47809894C>T	ENST00000285106.6	-	12	2279	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000349085.2_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H|MBD1_ENST00000585595.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	522					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTTCAATGCGTGTGGGGTA	0.592																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1564-1566)cGc>cAc		CXXC finger protein 1							87.0	60.0	69.0					18																	47809894		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47809894C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1565G>A	18.37:g.47809894C>T	ENSP00000285106:p.Arg522His					CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H	p.R522H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			12	2279	-			522					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1565G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543446	0.86022	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26067	1.76;1.76	4.49	4.49	0.54785	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.956;0.974;0.98	T	0.50242	-0.8851	10	0.72032	D	0.01	-13.1822	15.0406	0.71788	0.0:1.0:0.0:0.0	.	526;522;389	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	H	522;526	ENSP00000285106:R522H;ENSP00000390475:R526H	ENSP00000285106:R522H	R	-	2	0	CXXC1	46063892	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.054000	0.76649	2.212000	0.71576	0.467000	0.42956	CGC		0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		26	119	0	0	0	1	0	26	119				
GSKIP	51527	broad.mit.edu	37	14	96848753	96848753	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96848753C>T	ENST00000556095.1	+	3	1981	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	GSKIP_ENST00000554182.1_Silent_p.L57L|GSKIP_ENST00000555181.1_Silent_p.L57L|GSKIP_ENST00000438650.1_Silent_p.L57L|RNU2-33P_ENST00000410344.1_RNA	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	57						cytoplasm (GO:0005737)											CTCGAAAAGCCTGCGGTGTGC	0.433																																						ENST00000556095.1																			0											c.(169-171)Ctg>Ttg		GSK3B interacting protein							161.0	154.0	157.0					14																	96848753		2203	4300	6503	SO:0001819	synonymous_variant	51527							g.chr14:96848753C>T	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"""GSK3beta interaction protein"""		"""chromosome 14 open reading frame 129"""	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.169C>T	14.37:g.96848753C>T						GSKIP_ENST00000554182.1_Silent_p.L57L|GSKIP_ENST00000438650.1_Silent_p.L57L|GSKIP_ENST00000555181.1_Silent_p.L57L	p.L57L	NM_001271904.1	NP_001258833.1					3	1981	+								B3KSZ0|Q9BST1|Q9NWK0	Silent	SNP	ENST00000556095.1	37	c.169C>T	CCDS32153.1																																																																																				0.433	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472		79	387	0	0	0	1	0	79	387				
SHC2	25759	broad.mit.edu	37	19	436418	436418	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:436418T>C	ENST00000264554.6	-	6	787	c.788A>G	c.(787-789)tAc>tGc	p.Y263C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	263	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGGCCACGTAATCCGTCAT	0.716																																						ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(787-789)tAc>tGc		SHC (Src homology 2 domain containing) transforming protein 2							24.0	29.0	27.0					19																	436418		1904	4098	6002	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:436418T>C	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.788A>G	19.37:g.436418T>C	ENSP00000264554:p.Tyr263Cys						p.Y263C	NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	787	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	263			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.788A>G	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952042	0.73787	.	.	ENSG00000129946	ENST00000264554	T	0.15372	2.43	4.67	4.67	0.58626	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87038	2.855	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.55854	-0.8075	10	0.87932	D	0	-31.1631	13.588	0.61942	0.0:0.0:0.0:1.0	.	263	P98077	SHC2_HUMAN	C	263	ENSP00000264554:Y263C	ENSP00000264554:Y263C	Y	-	2	0	SHC2	387418	1.000000	0.71417	0.860000	0.33809	0.929000	0.56500	7.432000	0.80349	1.887000	0.54652	0.352000	0.21897	TAC		0.716	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			67	239	0	0	0	1	0	67	239				
GJA3	2700	broad.mit.edu	37	13	20716897	20716897	+	Silent	SNP	C	C	T	rs532650165		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20716897C>T	ENST00000241125.3	-	2	707	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	177					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCGGTAGAGCGGCTTCAGCT	0.597																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(529-531)ccG>ccA		gap junction protein, alpha 3, 46kDa							49.0	47.0	48.0					13																	20716897		2203	4300	6503	SO:0001819	synonymous_variant	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20716897C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.531G>A	13.37:g.20716897C>T							p.P177P	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	707	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	177					Q0VAB7|Q9H537	Silent	SNP	ENST00000241125.3	37	c.531G>A	CCDS9289.1																																																																																				0.597	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		61	305	0	0	0	1	0	61	305				
MYCBP2	23077	broad.mit.edu	37	13	77632491	77632491	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77632491G>A	ENST00000544440.2	-	78	13094	c.13077C>T	c.(13075-13077)tgC>tgT	p.C4359C	MYCBP2_ENST00000357337.6_Silent_p.C4359C|MYCBP2_ENST00000407578.2_Silent_p.C4397C					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)		TAACACCCCCGCATGGATGGC	0.448																																						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.(13189-13191)tgC>tgT		MYC binding protein 2, E3 ubiquitin protein ligase							151.0	123.0	132.0					13																	77632491		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77632491G>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.13077C>T	13.37:g.77632491G>A						MYCBP2_ENST00000357337.6_Silent_p.C4359C|MYCBP2_ENST00000544440.2_Silent_p.C4359C	p.C4397C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	78	13457	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4359						Silent	SNP	ENST00000544440.2	37	c.13191C>T		.	.	.	.	.	.	.	.	.	.	G	9.636	1.137802	0.21123	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.42	-1.34	0.09143	.	.	.	.	.	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56269	-0.8007	4	.	.	.	.	12.2985	0.54860	0.5067:0.0:0.4933:0.0	.	.	.	.	W	780	.	.	R	-	1	2	MYCBP2	76530492	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	1.315000	0.33608	-0.201000	0.10284	-0.482000	0.04802	CGG		0.448	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		62	332	0	0	0	1	0	62	332				
GJA4	2701	broad.mit.edu	37	1	35260722	35260722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35260722C>T	ENST00000342280.4	+	2	996	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	303					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGGCGTCTTCCAGGCCCCCT	0.602																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(907-909)tCc>tTc		gap junction protein, alpha 4, 37kDa							45.0	42.0	43.0					1																	35260722		2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260722C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.908C>T	1.37:g.35260722C>T	ENSP00000343676:p.Ser303Phe						p.S303F	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	996	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	303					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.908C>T	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657035	0.47467	.	.	ENSG00000187513	ENST00000342280	D	0.97553	-4.43	5.52	5.52	0.82312	.	0.854734	0.10311	N	0.689936	D	0.96244	0.8775	L	0.44542	1.39	0.37490	D	0.916369	B	0.28512	0.214	B	0.34873	0.191	D	0.93004	0.6426	10	0.59425	D	0.04	.	19.4501	0.94863	0.0:1.0:0.0:0.0	.	303	P35212	CXA4_HUMAN	F	303	ENSP00000343676:S303F	ENSP00000343676:S303F	S	+	2	0	GJA4	35033309	0.046000	0.20272	0.668000	0.29813	0.691000	0.40173	1.444000	0.35068	2.579000	0.87056	0.561000	0.74099	TCC		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		13	122	0	0	0	1	0	13	122				
LYG2	254773	broad.mit.edu	37	2	99863270	99863270	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99863270G>A	ENST00000409238.1	-	2	77	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LYG2_ENST00000409679.1_Silent_p.G19G|LYG2_ENST00000423800.1_Silent_p.G19G|LYG2_ENST00000333017.2_Silent_p.G19G			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	19				G -> S (in Ref. 4; AAK16605/AAO32945). {ECO:0000305}.	cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AGGGGTATGAGCCCCTGGAAG	0.498																																						ENST00000409679.1																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(55-57)ggC>ggT		lysozyme G-like 2							134.0	115.0	122.0					2																	99863270		2203	4300	6503	SO:0001819	synonymous_variant	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99863270G>A	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.57C>T	2.37:g.99863270G>A						LYG2_ENST00000409238.1_Silent_p.G19G|LYG2_ENST00000333017.2_Silent_p.G19G	p.G19G			Q86SG7	LYG2_HUMAN			3	201	-			19	G -> S (in Ref. 4; AAK16605/AAO32945).				Q496G2|Q53RW0	Silent	SNP	ENST00000409238.1	37	c.57C>T	CCDS2042.1																																																																																				0.498	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		69	340	0	0	0	1	0	69	340				
PDHA2	5161	broad.mit.edu	37	4	96761415	96761415	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96761415A>G	ENST00000295266.4	+	1	177	c.114A>G	c.(112-114)aaA>aaG	p.K38K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	38					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AAATTAAGAAATGTGATCTTT	0.507																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(112-114)aaA>aaG		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						56.0	57.0	57.0					4																	96761415		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761415A>G		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.114A>G	4.37:g.96761415A>G							p.K38K	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	177	+		Hepatocellular(203;0.114)	38					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.114A>G	CCDS3644.1																																																																																				0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			37	181	0	0	0	1	0	37	181				
TEX15	56154	broad.mit.edu	37	8	30690823	30690823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30690823T>G	ENST00000256246.2	-	4	8423	c.8349A>C	c.(8347-8349)gaA>gaC	p.E2783D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2783					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GATGAAAGGATTCTTGGTGCC	0.289																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(8347-8349)gaA>gaC		testis expressed 15							37.0	39.0	38.0					8																	30690823		2203	4297	6500	SO:0001583	missense	56154							g.chr8:30690823T>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8349A>C	8.37:g.30690823T>G	ENSP00000256246:p.Glu2783Asp						p.E2783D	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	4	8423	-			2783						Missense_Mutation	SNP	ENST00000256246.2	37	c.8349A>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	4.139	0.024091	0.08006	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	5.72	3.28	0.37604	.	1.270990	0.05549	N	0.567080	T	0.07458	0.0188	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.36841	-0.9731	10	0.87932	D	0	.	4.9207	0.13869	0.1687:0.0877:0.0:0.7436	.	2783	Q9BXT5	TEX15_HUMAN	D	2783	ENSP00000256246:E2783D	ENSP00000256246:E2783D	E	-	3	2	TEX15	30810365	0.015000	0.18098	0.063000	0.19743	0.108000	0.19459	1.003000	0.29809	0.495000	0.27882	0.528000	0.53228	GAA		0.289	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			23	102	0	0	0	1	0	23	102				
NKRF	55922	broad.mit.edu	37	X	118724252	118724252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724252C>T	ENST00000371527.1	-	2	1788	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	379					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAAAAACACTCGACAACGCCA	0.383																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1135-1137)cGa>cAa		NFKB repressing factor							109.0	99.0	102.0					X																	118724252		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724252C>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1136G>A	X.37:g.118724252C>T	ENSP00000360582:p.Arg379Gln					NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q|NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q|NKRF_ENST00000487600.1_Intron	p.R379Q	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	1788	-			379					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1136G>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642932	0.14451	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	D;D;D	0.98012	-4.66;-4.66;-4.66	5.85	1.13	0.20643	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.290936	0.36740	N	0.002436	D	0.91178	0.7221	N	0.08118	0	0.26124	N	0.980517	B	0.12013	0.005	B	0.04013	0.001	T	0.81493	-0.0908	10	0.19147	T	0.46	-1.4355	10.8277	0.46643	0.0:0.5473:0.0:0.4527	.	379	O15226	NKRF_HUMAN	Q	379;379;394	ENSP00000360582:R379Q;ENSP00000304803:R379Q;ENSP00000442308:R394Q	ENSP00000304803:R379Q	R	-	2	0	NKRF	118608280	0.262000	0.24073	0.982000	0.44146	0.998000	0.95712	0.814000	0.27239	0.141000	0.18875	0.600000	0.82982	CGA		0.383	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		19	546	0	0	0	1	0	19	546				
COL22A1	169044	broad.mit.edu	37	8	139697494	139697494	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139697494G>T	ENST00000303045.6	-	38	3370	c.2924C>A	c.(2923-2925)cCt>cAt	p.P975H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P975H|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	975	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGAGCCCAGGAGCACCAGG	0.582										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2923-2925)cCt>cAt		collagen, type XXII, alpha 1							44.0	45.0	45.0					8																	139697494		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139697494G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2924C>A	8.37:g.139697494G>T	ENSP00000303153:p.Pro975His	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P975H|COL22A1_ENST00000341807.4_5'UTR	p.P975H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		38	3370	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		975			Collagen-like 8.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2924C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892228	0.17613	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97772	-4.53;-4.53	4.42	4.42	0.53409	.	0.000000	0.46758	U	0.000265	D	0.99026	0.9667	H	0.95917	3.74	0.20403	N	0.9999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95101	0.8230	10	0.62326	D	0.03	.	12.455	0.55700	0.0:0.0:1.0:0.0	.	975;975	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	H	975;975;688	ENSP00000303153:P975H;ENSP00000387655:P975H	ENSP00000303153:P975H	P	-	2	0	COL22A1	139766676	0.945000	0.32115	0.072000	0.20136	0.005000	0.04900	3.183000	0.50918	2.308000	0.77769	0.442000	0.29010	CCT		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		9	423	1	0	0.00829132	1	0.00834067	9	423				
FAM101A	144347	broad.mit.edu	37	12	124798899	124798899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798899G>A	ENST00000389727.3	+	3	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H|FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H|FAM101A_ENST00000324038.3_Missense_Mutation_p.R79H			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	160										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACGCCCGCGCGCCCTGCGC	0.692																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(478-480)cGc>cAc		family with sequence similarity 101, member A							93.0	87.0	89.0					12																	124798899		2203	4298	6501	SO:0001583	missense	144347							g.chr12:124798899G>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.479G>A	12.37:g.124798899G>A	ENSP00000374377:p.Arg160His					FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H|FAM101A_ENST00000324038.3_Missense_Mutation_p.R79H|FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H	p.R160H			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	479	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		160					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.479G>A		.	.	.	.	.	.	.	.	.	.	G	17.56	3.419266	0.62622	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.190246	0.47455	D	0.000233	T	0.68668	0.3026	M	0.66939	2.045	0.38343	D	0.944114	D	0.89917	1.0	D	0.71414	0.973	T	0.73799	-0.3869	9	0.87932	D	0	-1.3042	6.1345	0.20223	0.2454:0.0:0.7546:0.0	.	160	Q6ZTI6	F101A_HUMAN	H	79;160;79;79	.	ENSP00000315626:R79H	R	+	2	0	FAM101A	123364852	0.996000	0.38824	0.683000	0.30040	0.527000	0.34593	2.094000	0.41719	2.148000	0.66965	0.555000	0.69702	CGC		0.692	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		146	576	0	0	0	1	0	146	576				
C2CD2	25966	broad.mit.edu	37	21	43319445	43319445	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43319445A>G	ENST00000380486.3	-	13	1828	c.1587T>C	c.(1585-1587)gcT>gcC	p.A529A	C2CD2_ENST00000329623.7_Silent_p.A374A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	529						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GCATCAGGGCAGCGTCGTGGT	0.602																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(1585-1587)gcT>gcC		C2 calcium-dependent domain containing 2							33.0	38.0	36.0					21																	43319445		2080	4117	6197	SO:0001819	synonymous_variant	25966					cytosol|extracellular region|nucleus		g.chr21:43319445A>G	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1587T>C	21.37:g.43319445A>G						C2CD2_ENST00000329623.7_Silent_p.A374A	p.A529A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			13	1828	-			529					Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	c.1587T>C	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	A	1.964	-0.438107	0.04636	.	.	ENSG00000157617	ENST00000449165	.	.	.	4.96	-8.02	0.01118	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.39506	D	0.968282	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-14.4391	7.9098	0.29785	0.7422:0.0889:0.0808:0.0881	.	.	.	.	R	15	.	.	C	-	1	0	C2CD2	42192514	0.004000	0.15560	0.012000	0.15200	0.132000	0.20833	-0.528000	0.06193	-1.413000	0.02027	-0.464000	0.05259	TGC		0.602	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		11	179	0	0	0	1	0	11	179				
MANBA	4126	broad.mit.edu	37	4	103611867	103611867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103611867C>A	ENST00000226578.4	-	6	834	c.735G>T	c.(733-735)aaG>aaT	p.K245N	MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	245					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CACCAACTGGCTTTGAGCTGA	0.363																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(733-735)aaG>aaT		mannosidase, beta A, lysosomal							237.0	205.0	216.0					4																	103611867		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103611867C>A		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.735G>T	4.37:g.103611867C>A	ENSP00000226578:p.Lys245Asn					MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	p.K245N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	6	834	-		Hepatocellular(203;0.217)	245					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.735G>T	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539632	0.27563	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.59224	0.28;0.28	5.02	3.14	0.36123	.	0.329652	0.33327	N	0.005035	T	0.53883	0.1824	M	0.76838	2.35	0.34998	D	0.755714	P;P	0.45902	0.868;0.543	B;B	0.39660	0.306;0.265	T	0.65319	-0.6197	10	0.27785	T	0.31	-20.7191	10.1461	0.42764	0.0:0.8213:0.0:0.1787	.	188;245	E9PFW2;O00462	.;MANBA_HUMAN	N	245;188	ENSP00000226578:K245N;ENSP00000427322:K188N	ENSP00000226578:K245N	K	-	3	2	MANBA	103830915	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	1.643000	0.37217	1.337000	0.45525	0.650000	0.86243	AAG		0.363	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			147	661	1	0	1.03592e-72	1	1.31811e-72	147	661				
HMMR	3161	broad.mit.edu	37	5	162891738	162891738	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:162891738A>T	ENST00000358715.3	+	3	191	c.155A>T	c.(154-156)cAa>cTa	p.Q52L	HMMR_ENST00000432118.2_Intron|HMMR_ENST00000393915.4_Missense_Mutation_p.Q52L|HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	52					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GAATCTAAACAAAATCTTAAT	0.343																																						ENST00000393915.4																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(154-156)cAa>cTa		hyaluronan-mediated motility receptor (RHAMM)							113.0	112.0	113.0					5																	162891738		2203	4300	6503	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162891738A>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.155A>T	5.37:g.162891738A>T	ENSP00000351554:p.Gln52Leu					HMMR_ENST00000432118.2_Intron|HMMR_ENST00000358715.3_Missense_Mutation_p.Q52L|HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L|HMMR_ENST00000416990.2_5'UTR	p.Q52L	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	3	298	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	52					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.155A>T	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756322	0.31137	.	.	ENSG00000072571	ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000358715	T;T;T	0.09163	3.01;3.04;3.04	5.0	3.82	0.43975	.	0.570850	0.18749	N	0.132230	T	0.13157	0.0319	N	0.24115	0.695	0.30261	N	0.793177	P;P;P	0.52692	0.955;0.902;0.902	P;B;P	0.53861	0.736;0.442;0.523	T	0.03077	-1.1075	10	0.59425	D	0.04	-14.182	9.073	0.36504	0.8144:0.1856:0.0:0.0	.	52;52;52	O75330-3;O75330-2;O75330	.;.;HMMR_HUMAN	L	52	ENSP00000185942:Q52L;ENSP00000377492:Q52L;ENSP00000351554:Q52L	ENSP00000185942:Q52L	Q	+	2	0	HMMR	162824316	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	2.570000	0.45981	0.848000	0.35191	-0.316000	0.08728	CAA		0.343	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		57	205	0	0	0	1	0	57	205				
BAHCC1	57597	broad.mit.edu	37	17	79409669	79409669	+	Missense_Mutation	SNP	G	G	A	rs544465445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79409669G>A	ENST00000307745.7	+	9	1294	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N																								CATGGCCCCCGACCACGCTGC	0.726													g|||	1	0.000199681	0.0	0.0	5008	,	,		13135	0.0		0.001	False		,,,				2504	0.0					ENST00000307745.7																			0											c.(1294-1296)Gac>Aac									17.0	23.0	21.0					17																	79409669		2014	4159	6173	SO:0001583	missense	0							g.chr17:79409669G>A																												ENST00000307745.7:c.1294G>A	17.37:g.79409669G>A	ENSP00000303486:p.Asp432Asn						p.D432N							9	1294	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1294G>A		.	.	.	.	.	.	.	.	.	.	g	8.454	0.853720	0.17106	.	.	ENSG00000171282	ENST00000307745	T	0.11821	2.74	4.3	4.3	0.51218	.	.	.	.	.	T	0.09024	0.0223	N	0.24115	0.695	0.09310	N	1	P	0.35551	0.509	B	0.26969	0.075	T	0.18650	-1.0330	9	0.46703	T	0.11	.	11.5894	0.50938	0.0:0.1811:0.8189:0.0	.	432	Q9P281	BAHC1_HUMAN	N	432	ENSP00000303486:D432N	ENSP00000303486:D432N	D	+	1	0	AC110285.1	77024264	0.021000	0.18746	0.015000	0.15790	0.012000	0.07955	1.678000	0.37586	1.962000	0.57031	0.290000	0.19541	GAC		0.726	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				11	83	0	0	0	1	0	11	83				
SH2D3C	10044	broad.mit.edu	37	9	130501057	130501057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130501057G>T	ENST00000314830.8	-	12	2664	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	851	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAGGTTCCAGCTTGTGGGAC	0.637																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2551-2553)Ctg>Atg		SH2 domain containing 3C							66.0	53.0	58.0					9																	130501057		2202	4300	6502	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130501057G>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2551C>A	9.37:g.130501057G>T	ENSP00000317817:p.Leu851Met					SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M	p.L851M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			12	2664	-			851			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.2551C>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119480	0.77323	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.36520	2.13;2.15;1.83;2.14;1.25;2.02	5.76	2.77	0.32553	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.065135	0.64402	D	0.000005	T	0.45478	0.1344	M	0.79926	2.475	0.58432	D	0.999996	P;P;P;B;P	0.46142	0.554;0.873;0.81;0.301;0.856	B;P;B;B;P	0.48141	0.262;0.549;0.187;0.243;0.568	T	0.46789	-0.9166	10	0.72032	D	0.01	-15.1161	7.9297	0.29895	0.1462:0.133:0.7208:0.0	.	691;851;783;694;693	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	M	694;693;783;691;497;851	ENSP00000362374:L694M;ENSP00000388536:L693M;ENSP00000362373:L783M;ENSP00000362371:L691M;ENSP00000394632:L497M;ENSP00000317817:L851M	ENSP00000317817:L851M	L	-	1	2	SH2D3C	129540878	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.820000	0.62671	0.772000	0.33382	0.655000	0.94253	CTG		0.637	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		12	45	1	0	7.93312e-07	1	8.20014e-07	12	45				
ZBED9	114821	broad.mit.edu	37	6	28540422	28540422	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28540422G>T	ENST00000452236.2	-	4	3861	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttgccttgcagaaacactaag	0.378																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3244-3246)Ctg>Atg		SCAN domain containing 3							67.0	67.0	67.0					6																	28540422		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540422G>T																												ENST00000452236.2:c.3244C>A	6.37:g.28540422G>T	ENSP00000395259:p.Leu1082Met						p.L1082M	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3861	-			1082						Missense_Mutation	SNP	ENST00000452236.2	37	c.3244C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898401	0.33535	.	.	ENSG00000232040	ENST00000452236	T	0.40225	1.04	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.546150	0.12347	N	0.476966	T	0.42832	0.1220	M	0.62154	1.92	0.24564	N	0.993958	D	0.58970	0.984	D	0.70487	0.969	T	0.07966	-1.0745	10	0.45353	T	0.12	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	1082	Q6R2W3	SCND3_HUMAN	M	1082	ENSP00000395259:L1082M	ENSP00000395259:L1082M	L	-	1	2	SCAND3	28648401	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.085000	0.30840	1.507000	0.48752	0.561000	0.74099	CTG		0.378	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			21	449	1	0	3.62473e-10	1	3.83521e-10	21	449				
LAMA2	3908	broad.mit.edu	37	6	129618972	129618972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129618972C>T	ENST00000421865.2	+	21	3048	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1000	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACCGCTGTGCCCACGGCTAT	0.453																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2998-3000)gCc>gTc		laminin, alpha 2							68.0	63.0	65.0					6																	129618972		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129618972C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2999C>T	6.37:g.129618972C>T	ENSP00000400365:p.Ala1000Val						p.A1000V	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	21	3048	+			1000			Laminin EGF-like 10.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2999C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435747	0.83885	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.63096	-0.02	5.59	4.71	0.59529	EGF-like, laminin (4);	0.089738	0.48286	D	0.000185	T	0.62780	0.2456	M	0.64260	1.97	0.50632	D	0.999883	D;D	0.58970	0.984;0.984	P;P	0.60236	0.871;0.871	T	0.64757	-0.6332	10	0.40728	T	0.16	.	11.413	0.49935	0.1421:0.7213:0.1366:0.0	.	1000;1000	A6NF00;P24043	.;LAMA2_HUMAN	V	1000	ENSP00000400365:A1000V	ENSP00000346769:A1000V	A	+	2	0	LAMA2	129660665	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.952000	0.56691	1.344000	0.45657	-0.181000	0.13052	GCC		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			29	144	0	0	0	1	0	29	144				
KMT2D	8085	broad.mit.edu	37	12	49446131	49446131	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49446131C>A	ENST00000301067.7	-	10	1334	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	445	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGGTGACTCCTCAGGTGGGG	0.622																																						ENST00000301067.7																			0											c.(1333-1335)gaG>gaT		lysine (K)-specific methyltransferase 2D							51.0	56.0	54.0					12																	49446131		2138	4218	6356	SO:0001583	missense	8085							g.chr12:49446131C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1335G>T	12.37:g.49446131C>A	ENSP00000301067:p.Glu445Asp						p.E445D	NM_003482.3	NP_003473.3					10	1334	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1335G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224539	0.22457	.	.	ENSG00000167548	ENST00000301067	T	0.79247	-1.25	4.61	1.78	0.24846	.	.	.	.	.	T	0.56775	0.2008	N	0.08118	0	0.19775	N	0.999958	D	0.53885	0.963	B	0.40940	0.344	T	0.50882	-0.8775	9	0.87932	D	0	.	7.8762	0.29595	0.0:0.7198:0.0:0.2802	.	445	O14686	MLL2_HUMAN	D	445	ENSP00000301067:E445D	ENSP00000301067:E445D	E	-	3	2	MLL2	47732398	0.642000	0.27260	0.999000	0.59377	0.963000	0.63663	0.123000	0.15708	0.190000	0.20209	0.313000	0.20887	GAG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	324	1	0	1.08611e-07	1	1.12939e-07	11	324				
HYAL4	23553	broad.mit.edu	37	7	123508656	123508656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123508656G>T	ENST00000223026.4	+	3	967	c.329G>T	c.(328-330)gGa>gTa	p.G110V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	110					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCATTAATGGAGGTCTCCCA	0.428																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(328-330)gGa>gTa		hyaluronoglucosaminidase 4							67.0	73.0	71.0					7																	123508656		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508656G>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.329G>T	7.37:g.123508656G>T	ENSP00000223026:p.Gly110Val					HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	p.G110V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	967	+			110					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.329G>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658059	0.67586	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.56103	0.48;0.48	5.49	5.49	0.81192	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	D	0.86451	0.1773	9	.	.	.	-35.1934	19.3677	0.94471	0.0:0.0:1.0:0.0	.	110;110	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	V	110	ENSP00000223026:G110V;ENSP00000417186:G110V	.	G	+	2	0	HYAL4	123295892	1.000000	0.71417	0.960000	0.40013	0.419000	0.31324	9.792000	0.99085	2.582000	0.87167	0.655000	0.94253	GGA		0.428	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		86	395	1	0	1.32764e-51	1	1.64847e-51	86	395				
KLHL10	317719	broad.mit.edu	37	17	39998252	39998252	+	Silent	SNP	C	C	T	rs544035963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998252C>T	ENST00000293303.4	+	2	525	c.372C>T	c.(370-372)atC>atT	p.I124I	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	124					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TCATGGGTATCGTCAGGGGTT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20416	0.0		0.0	False		,,,				2504	0.001					ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(370-372)atC>atT		kelch-like family member 10							119.0	112.0	114.0					17																	39998252		1997	4178	6175	SO:0001819	synonymous_variant	317719					cytoplasm		g.chr17:39998252C>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.372C>T	17.37:g.39998252C>T						KLHL10_ENST00000485613.1_3'UTR	p.I124I	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			2	525	+		Breast(137;0.000162)	124					Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	c.372C>T	CCDS42340.1																																																																																				0.498	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		76	275	0	0	0	1	0	76	275				
GLS	2744	broad.mit.edu	37	2	191769834	191769834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191769834G>A	ENST00000320717.3	+	6	1178	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	307					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TATGTGCATCGATATGTTGGA	0.353																																						ENST00000320717.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(919-921)cGa>cAa		glutaminase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						134.0	132.0	133.0					2																	191769834		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191769834G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.920G>A	2.37:g.191769834G>A	ENSP00000317379:p.Arg307Gln					GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	p.R307Q	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		6	1178	+			307					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.920G>A	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490238	0.64074	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.39787	1.06;1.06	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	N	0.03115	-0.41	0.80722	D	1	B;B	0.29531	0.046;0.247	B;B	0.14578	0.01;0.011	T	0.19224	-1.0312	10	0.06494	T	0.89	-9.0891	20.3429	0.98773	0.0:0.0:1.0:0.0	.	307;307	O94925;O94925-3	GLSK_HUMAN;.	Q	307	ENSP00000317379:R307Q;ENSP00000340689:R307Q	ENSP00000317379:R307Q	R	+	2	0	GLS	191478079	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.881000	0.98747	0.650000	0.86243	CGA		0.353	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			53	237	0	0	0	1	0	53	237				
FAM69B	138311	broad.mit.edu	37	9	139617866	139617866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617866G>A	ENST00000371692.4	+	5	1032	c.936G>A	c.(934-936)aaG>aaA	p.K312K	SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Silent_p.K225K|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	312						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACGACTTCAAGATGGCCGACC	0.642																																						ENST00000371691.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(673-675)aaG>aaA		family with sequence similarity 69, member B							38.0	38.0	38.0					9																	139617866		2203	4299	6502	SO:0001819	synonymous_variant	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617866G>A		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.936G>A	9.37:g.139617866G>A						FAM69B_ENST00000371692.4_Silent_p.K312K|SNHG7_ENST00000414282.1_RNA	p.K225K			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1774	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	312					Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	ENST00000371692.4	37	c.675G>A	CCDS7004.1																																																																																				0.642	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		33	189	0	0	0	1	0	33	189				
CEP170B	283638	broad.mit.edu	37	14	105353352	105353352	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105353352G>A	ENST00000414716.3	+	12	3004	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	CEP170B_ENST00000418279.1_Missense_Mutation_p.A856T|CEP170B_ENST00000453495.1_Missense_Mutation_p.A927T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A856T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	926						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGCCCTGGAGGCCCGACTCCT	0.682																																						ENST00000453495.1																			0											c.(2779-2781)Gcc>Acc		centrosomal protein 170B							28.0	39.0	35.0					14																	105353352		1974	4134	6108	SO:0001583	missense	283638							g.chr14:105353352G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2776G>A	14.37:g.105353352G>A	ENSP00000404151:p.Ala926Thr					CEP170B_ENST00000418279.1_Missense_Mutation_p.A856T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A856T|CEP170B_ENST00000414716.3_Missense_Mutation_p.A926T	p.A927T							12	3007	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2779G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964100	0.92791	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.59083	0.34;0.35;0.29;0.35	4.48	4.48	0.54585	.	0.133016	0.51477	D	0.000091	T	0.74966	0.3786	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.87578	0.895;0.996;0.998	T	0.77148	-0.2694	10	0.48119	T	0.1	-30.4102	17.1432	0.86759	0.0:0.0:1.0:0.0	.	926;926;856	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	856;926;927;856	ENSP00000451249:A856T;ENSP00000404151:A926T;ENSP00000407238:A927T;ENSP00000415006:A856T	ENSP00000404151:A926T	A	+	1	0	KIAA0284	104424397	1.000000	0.71417	0.993000	0.49108	0.837000	0.47467	9.642000	0.98461	2.032000	0.59987	0.491000	0.48974	GCC		0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		37	311	0	0	0	1	0	37	311				
PHACTR3	116154	broad.mit.edu	37	20	58348387	58348387	+	Missense_Mutation	SNP	C	C	T	rs148776043	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58348387C>T	ENST00000371015.1	+	6	1272	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R228W|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R228W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R228W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R158W|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R266W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R158W	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	269						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCTTCCCTCCGGGGCCAGCT	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		18381	0.0		0.002	False		,,,				2504	0.0					ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(805-807)Cgg>Tgg		phosphatase and actin regulator 3		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	81.0	83.0		796,682,805,682,472	2.9	0.6	20	dbSNP_134	83	21,8579	14.6+/-50.1	0,21,4279	yes	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	101,101,101,101,101	0,22,6481	TT,TC,CC		0.2442,0.0227,0.1692	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	266/557,228/519,269/560,228/519,158/449	58348387	22,12984	2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348387C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.805C>T	20.37:g.58348387C>T	ENSP00000360054:p.Arg269Trp					PHACTR3_ENST00000541461.1_Missense_Mutation_p.R228W|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R266W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R228W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R158W|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R228W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R158W	p.R269W	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1272	+	all_lung(29;0.00344)		269					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.805C>T	CCDS13480.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	14.27	2.485596	0.44147	2.27E-4	0.002442	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33438	1.78;1.79;1.41;1.8;1.8;1.8;1.41	5.13	2.9	0.33743	.	0.056902	0.64402	D	0.000003	T	0.52996	0.1769	M	0.71581	2.175	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.991	T	0.59685	-0.7408	10	0.87932	D	0	-10.3867	13.7015	0.62611	0.3437:0.6563:0.0:0.0	.	158;269;266	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	W	266;269;158;228;228;228;158	ENSP00000353002:R266W;ENSP00000360054:R269W;ENSP00000379001:R158W;ENSP00000442483:R228W;ENSP00000347866:R228W;ENSP00000378998:R228W;ENSP00000354555:R158W	ENSP00000347866:R228W	R	+	1	2	PHACTR3	57781782	0.997000	0.39634	0.553000	0.28255	0.264000	0.26372	1.219000	0.32479	1.097000	0.41459	0.655000	0.94253	CGG		0.647	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		51	576	0	0	0	1	0	51	576				
HEPH	9843	broad.mit.edu	37	X	65420449	65420449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420449G>A	ENST00000343002.2	+	11	2596	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	HEPH_ENST00000519389.1_Nonsense_Mutation_p.W698*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.W647*|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Nonsense_Mutation_p.W647*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.W377*			Q9BQS7	HEPH_HUMAN	hephaestin	644	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGTGGCCTGGCACCTGCTCG	0.547																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2092-2094)tgG>tgA		hephaestin							172.0	110.0	131.0					X																	65420449		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65420449G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1932G>A	X.37:g.65420449G>A	ENSP00000343939:p.Trp644*					HEPH_ENST00000441993.2_Nonsense_Mutation_p.W647*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.W644*|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Nonsense_Mutation_p.W377*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.W647*	p.W698*			Q9BQS7	HEPH_HUMAN			12	2273	+			644			Plastocyanin-like 4.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.2094G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.637148	0.98403	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	.	.	.	4.84	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.339	0.55083	0.0:0.0:0.8297:0.1703	.	.	.	.	X	698;647;377;647;644;601	.	ENSP00000337418:W377X	W	+	3	0	HEPH	65337174	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.341000	0.97041	0.816000	0.34421	0.600000	0.82982	TGG		0.547	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		4	105	0	0	0	1	0	4	105				
UTS2B	257313	broad.mit.edu	37	3	190993101	190993101	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190993101T>C	ENST00000340524.5	-	8	1060	c.274A>G	c.(274-276)Aag>Gag	p.K92E	UTS2B_ENST00000427544.2_Missense_Mutation_p.K92E	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	92					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											TCAGAATCCTTCTCCTCCACT	0.393																																						ENST00000340524.5																			0											c.(274-276)Aag>Gag		urotensin 2B							176.0	172.0	173.0					3																	190993101		2203	4300	6503	SO:0001583	missense	257313							g.chr3:190993101T>C	AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.274A>G	3.37:g.190993101T>C	ENSP00000340526:p.Lys92Glu					UTS2B_ENST00000427544.2_Missense_Mutation_p.K92E	p.K92E	NM_198152.3	NP_937795.2					8	1060	-								B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	ENST00000340524.5	37	c.274A>G	CCDS3300.1	.	.	.	.	.	.	.	.	.	.	T	3.436	-0.115118	0.06881	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.46451	0.87;0.87	4.62	4.62	0.57501	.	0.264466	0.26362	N	0.024819	T	0.36496	0.0969	L	0.49350	1.555	0.09310	N	1	P	0.40970	0.734	B	0.40329	0.326	T	0.21042	-1.0257	10	0.25106	T	0.35	-10.4503	10.3543	0.43954	0.0:0.0:0.0:1.0	.	92	Q765I0	UTS2B_HUMAN	E	92	ENSP00000340526:K92E;ENSP00000398761:K92E	ENSP00000340526:K92E	K	-	1	0	UTS2D	192475795	0.024000	0.19004	0.007000	0.13788	0.109000	0.19521	1.901000	0.39838	1.935000	0.56089	0.383000	0.25322	AAG		0.393	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343353.1	NM_198152		132	511	0	0	0	1	0	132	511				
MUC16	94025	broad.mit.edu	37	19	9046323	9046323	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046323T>C	ENST00000397910.4	-	5	35511	c.35308A>G	c.(35308-35310)Acc>Gcc	p.T11770A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11772	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGCTGTGGTCTCTGGCATA	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35308-35310)Acc>Gcc		mucin 16, cell surface associated							132.0	126.0	128.0					19																	9046323		2012	4191	6203	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046323T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35308A>G	19.37:g.9046323T>C	ENSP00000381008:p.Thr11770Ala						p.T11770A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35511	-			11772			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35308A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.046	0.563457	0.13498	.	.	ENSG00000181143	ENST00000397910	T	0.02050	4.48	3.57	1.5	0.22942	.	.	.	.	.	T	0.02533	0.0077	L	0.43152	1.355	.	.	.	P	0.35745	0.518	B	0.36378	0.223	T	0.30851	-0.9964	8	0.87932	D	0	.	5.016	0.14337	0.0:0.2506:0.0:0.7494	.	11770	B5ME49	.	A	11770	ENSP00000381008:T11770A	ENSP00000381008:T11770A	T	-	1	0	MUC16	8907323	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.377000	0.20552	0.270000	0.21984	0.454000	0.30748	ACC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		62	245	0	0	0	1	0	62	245				
FAM86DP	692099	broad.mit.edu	37	3	75475629	75475629	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75475629C>T	ENST00000459803.1	-	0	900					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		GCTGGCACGTCTCTGGGTTGT	0.652																																						ENST00000459803.1																			0																																																			0							g.chr3:75475629C>T	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.75475629C>T								NR_024241.1						0	900	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.652	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		81	464	0	0	0	1	0	81	464				
ZC3H4	23211	broad.mit.edu	37	19	47570756	47570756	+	Silent	SNP	C	C	T	rs561929540	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47570756C>T	ENST00000253048.5	-	15	2806	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	923							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCCTCCGTTGGGGGCG	0.711													C|||	2	0.000399361	0.0	0.0	5008	,	,		13703	0.0		0.0	False		,,,				2504	0.002					ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2767-2769)acG>acA		zinc finger CCCH-type containing 4							38.0	45.0	43.0					19																	47570756		1900	4096	5996	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47570756C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2769G>A	19.37:g.47570756C>T						ZC3H4_ENST00000594019.1_Intron	p.T923T	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2806	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	923					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.2769G>A	CCDS42582.1																																																																																				0.711	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			22	507	0	0	0	1	0	22	507				
AHNAK2	113146	broad.mit.edu	37	14	105419440	105419440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105419440G>T	ENST00000333244.5	-	7	2467	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	783						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCGCCTTGGGGCCTTTCAG	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2347-2349)cCc>cAc		AHNAK nucleoprotein 2							112.0	125.0	121.0					14																	105419440		1857	4091	5948	SO:0001583	missense	113146					nucleus		g.chr14:105419440G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2348C>A	14.37:g.105419440G>T	ENSP00000353114:p.Pro783His					AHNAK2_ENST00000557457.1_Intron	p.P783H	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2467	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	783					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2348C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106012	0.37145	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	3.12	2.21	0.28008	.	.	.	.	.	T	0.19087	0.0458	M	0.91510	3.215	0.09310	N	1	D	0.67145	0.996	D	0.77004	0.989	T	0.05194	-1.0900	9	0.44086	T	0.13	.	6.823	0.23866	0.2304:0.0:0.7696:0.0	.	783	Q8IVF2	AHNK2_HUMAN	H	783	ENSP00000353114:P783H	ENSP00000353114:P783H	P	-	2	0	AHNAK2	104490485	0.003000	0.15002	0.004000	0.12327	0.008000	0.06430	0.699000	0.25586	0.297000	0.22615	0.485000	0.47835	CCC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		256	1043	1	0	1.68201e-53	1	2.09675e-53	256	1043				
L3MBTL4	91133	broad.mit.edu	37	18	6263998	6263998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6263998C>T	ENST00000284898.6	-	5	367	c.167G>A	c.(166-168)tGg>tAg	p.W56*	L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.W56*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	56					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTCAAGTACCACTCCCAAGA	0.433																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(166-168)tGg>tAg		l(3)mbt-like 4 (Drosophila)							86.0	88.0	88.0					18																	6263998		2203	4300	6503	SO:0001587	stop_gained	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6263998C>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.167G>A	18.37:g.6263998C>T	ENSP00000284898:p.Trp56*					L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*	p.W56*			Q8NA19	LMBL4_HUMAN			5	367	-		Colorectal(10;0.0249)	56					A8MTL8|Q8IXS3	Nonsense_Mutation	SNP	ENST00000284898.6	37	c.167G>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	37	6.274849	0.97435	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	.	.	.	5.04	2.67	0.31697	.	0.187021	0.34676	N	0.003775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.4813	0.27406	0.0:0.1287:0.0:0.8713	.	.	.	.	X	56	.	ENSP00000284898:W56X	W	-	2	0	L3MBTL4	6253998	0.293000	0.24371	1.000000	0.80357	0.974000	0.67602	0.304000	0.19228	0.360000	0.24265	-0.142000	0.14014	TGG		0.433	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		41	259	0	0	0	1	0	41	259				
LRRC37B	114659	broad.mit.edu	37	17	30376270	30376270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30376270C>T	ENST00000341671.7	+	10	2538	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	LRRC37B_ENST00000327564.7_Nonsense_Mutation_p.R872*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.R763*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	845						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCATGTTGCGAACAGGCCT	0.438																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2614-2616)Cga>Tga		leucine rich repeat containing 37B							79.0	70.0	73.0					17																	30376270		2203	4298	6501	SO:0001587	stop_gained	114659					integral to membrane		g.chr17:30376270C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2533C>T	17.37:g.30376270C>T	ENSP00000340519:p.Arg845*					LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.R763*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*|LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.R845*	p.R872*			Q96QE4	LR37B_HUMAN			10	2675	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	845					Q17RC9|Q5YKG6	Nonsense_Mutation	SNP	ENST00000341671.7	37	c.2614C>T	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.578	0.881682	0.17467	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	.	.	.	1.78	-2.18	0.07037	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1537	0.00096	0.3506:0.2442:0.1678:0.2374	.	.	.	.	X	763;872;794;845	.	ENSP00000332536:R872X	R	+	1	2	LRRC37B	27400383	0.005000	0.15991	0.006000	0.13384	0.000000	0.00434	0.839000	0.27586	-0.642000	0.05480	-2.596000	0.00163	CGA		0.438	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		70	294	0	0	0	1	0	70	294				
UBE3B	89910	broad.mit.edu	37	12	109967770	109967770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109967770C>T	ENST00000342494.3	+	25	3298	c.2703C>T	c.(2701-2703)agC>agT	p.S901S	UBE3B_ENST00000434735.2_Silent_p.S901S|UBE3B_ENST00000535089.1_5'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	901	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCCTCATTAGCGGATTCCGTT	0.448																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(2701-2703)agC>agT		ubiquitin protein ligase E3B							181.0	157.0	165.0					12																	109967770		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109967770C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2703C>T	12.37:g.109967770C>T						UBE3B_ENST00000535089.1_5'UTR|UBE3B_ENST00000434735.2_Silent_p.S901S	p.S901S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			25	3298	+			901			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.2703C>T	CCDS9129.1																																																																																				0.448	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		163	489	0	0	0	1	0	163	489				
FLNC	2318	broad.mit.edu	37	7	128489608	128489608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489608C>T	ENST00000325888.8	+	30	5436	c.5175C>T	c.(5173-5175)atC>atT	p.I1725I	FLNC_ENST00000346177.6_Silent_p.I1725I|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1725					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAGCACATCCCCAACAGCC	0.587																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5173-5175)atC>atT		filamin C, gamma							58.0	66.0	63.0					7																	128489608		2050	4196	6246	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489608C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5175C>T	7.37:g.128489608C>T						FLNC_ENST00000346177.6_Silent_p.I1725I	p.I1725I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			30	5436	+			1725					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5175C>T	CCDS43644.1																																																																																				0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			50	269	0	0	0	1	0	50	269				
EFCAB5	374786	broad.mit.edu	37	17	28417522	28417522	+	Missense_Mutation	SNP	G	G	A	rs146481233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28417522G>A	ENST00000394835.3	+	20	3959	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1256							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTCCACTTCGTGAGAGAACA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20827	0.0		0.001	False		,,,				2504	0.0					ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(3766-3768)cGt>cAt		EF-hand calcium binding domain 5							126.0	123.0	124.0					17																	28417522		1852	4094	5946	SO:0001583	missense	374786						calcium ion binding	g.chr17:28417522G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3767G>A	17.37:g.28417522G>A	ENSP00000378312:p.Arg1256His					EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H|RP11-1148O4.2_ENST00000582938.1_RNA	p.R1256H	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			20	3959	+			1256					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3767G>A	CCDS11254.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.93	3.258665	0.59321	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.24538	1.85;1.92;1.91	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000071	T	0.46328	0.1387	M	0.74258	2.255	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59643	0.861;0.861	T	0.41910	-0.9482	10	0.51188	T	0.08	-12.5922	13.5817	0.61907	0.0768:0.0:0.9232:0.0	.	1132;1256	E7EVS9;A4FU69	.;EFCB5_HUMAN	H	1256;1132;938	ENSP00000378312:R1256H;ENSP00000322003:R1132H;ENSP00000417009:R938H	ENSP00000322003:R1132H	R	+	2	0	EFCAB5	25441648	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.360000	0.59455	2.535000	0.85469	0.655000	0.94253	CGT		0.393	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		109	415	0	0	0	1	0	109	415				
ZKSCAN4	387032	broad.mit.edu	37	6	28219397	28219397	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28219397C>A	ENST00000377294.2	-	1	605	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACCTCCTCCCCGCTCTCTGG	0.597																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(361-363)gGg>gTg		zinc finger with KRAB and SCAN domains 4							27.0	30.0	29.0					6																	28219397		2202	4278	6480	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28219397C>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.362G>T	6.37:g.28219397C>A	ENSP00000366509:p.Gly121Val					ZKSCAN4_ENST00000423974.2_Intron	p.G121V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			1	605	-			121			SCAN box.		B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.362G>T	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477769	0.84640	.	.	ENSG00000187626	ENST00000377294;ENST00000356796	T	0.05025	3.51	4.45	4.45	0.53987	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.23451	0.0567	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.08330	-1.0727	9	0.62326	D	0.03	.	16.7365	0.85448	0.0:1.0:0.0:0.0	.	121	Q969J2	ZKSC4_HUMAN	V	121;69	ENSP00000366509:G121V	ENSP00000349249:G69V	G	-	2	0	ZKSCAN4	28327376	0.940000	0.31905	1.000000	0.80357	0.981000	0.71138	2.649000	0.46656	2.388000	0.81334	0.655000	0.94253	GGG		0.597	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		59	205	1	0	2.94884e-30	1	3.45738e-30	59	205				
ADAMTSL1	92949	broad.mit.edu	37	9	18777494	18777494	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18777494C>T	ENST00000380548.4	+	19	3606	c.3267C>T	c.(3265-3267)ccC>ccT	p.P1089P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1089						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAGCAGCCCGAGGAGCTGC	0.667																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3265-3267)ccC>ccT		ADAMTS-like 1							14.0	18.0	16.0					9																	18777494		2075	4189	6264	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777494C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3267C>T	9.37:g.18777494C>T							p.P1089P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3606	+			1089					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.3267C>T	CCDS47954.1																																																																																				0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	42	0	0	0	1	0	11	42				
NPIPB5	100132247	broad.mit.edu	37	16	22545850	22545850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22545850G>A	ENST00000517539.1	+	8	1621	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	NPIPB5_ENST00000424340.1_Missense_Mutation_p.E516K|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	516	Pro-rich.					integral component of membrane (GO:0016021)											GACACCTTCCGAGCGTCAGCT	0.577																																						ENST00000424340.1																			0											c.(1546-1548)Gag>Aag		nuclear pore complex interacting protein family, member B5							8.0	6.0	7.0					16																	22545850		679	1564	2243	SO:0001583	missense	100132247							g.chr16:22545850G>A		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1546G>A	16.37:g.22545850G>A	ENSP00000430633:p.Glu516Lys					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.E516K	p.E516K	NM_001135865.1	NP_001129337.1					7	1825	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1546G>A	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.665743	0.29604	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.18810	2.19;2.24;2.24;2.19	.	.	.	.	.	.	.	.	T	0.24624	0.0597	N	0.24115	0.695	0.09310	N	1	P;P	0.48503	0.891;0.911	P;P	0.62184	0.837;0.899	T	0.16394	-1.0404	7	0.49607	T	0.09	.	.	.	.	.	516;516	F5GWX0;A8MRT5	.;K220L_HUMAN	K	516;516;516;394;516;516;497	ENSP00000445388:E516K;ENSP00000440703:E516K;ENSP00000430633:E516K;ENSP00000431553:E516K	ENSP00000441680:E516K	E	+	1	0	RP11-368J21.2	22453351	.	.	0.003000	0.11579	0.003000	0.03518	.	.	0.073000	0.16731	0.074000	0.15403	GAG		0.577	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		132	2057	0	0	0	1	0	132	2057				
BMPER	168667	broad.mit.edu	37	7	34118487	34118487	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34118487T>C	ENST00000297161.2	+	13	1471	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A	BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	366	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTTGCACGGTGTTTGGAGAT	0.537																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1096-1098)gTg>gCg		BMP binding endothelial regulator							70.0	74.0	73.0					7																	34118487		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118487T>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1097T>C	7.37:g.34118487T>C	ENSP00000297161:p.Val366Ala					BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	p.V366A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			13	1471	+			366			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1097T>C	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519696	0.85495	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.63417	-0.04;-0.04	5.97	5.97	0.96955	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	N	0.25245	0.725	0.80722	D	1	D	0.63046	0.992	D	0.72625	0.978	T	0.61618	-0.7026	10	0.15952	T	0.53	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	366	Q8N8U9	BMPER_HUMAN	A	366	ENSP00000297161:V366A;ENSP00000393950:V366A	ENSP00000297161:V366A	V	+	2	0	BMPER	34085012	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	GTG		0.537	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		89	441	0	0	0	1	0	89	441				
ANKRD30A	91074	broad.mit.edu	37	10	37486234	37486234	+	Silent	SNP	C	C	T	rs562184589		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37486234C>T	ENST00000602533.1	+	28	2571	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	ANKRD30A_ENST00000374660.1_Silent_p.F943F|ANKRD30A_ENST00000361713.1_Silent_p.F824F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	880					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F824F(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18318	0.0		0.0	False		,,,				2504	0.0					ENST00000374660.1																			1	Substitution - coding silent(1)	p.F824F(1)	endometrium(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2827-2829)ttC>ttT		ankyrin repeat domain 30A							168.0	143.0	150.0					10																	37486234		1802	4078	5880	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486234C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2472C>T	10.37:g.37486234C>T						ANKRD30A_ENST00000602533.1_Silent_p.F824F|ANKRD30A_ENST00000361713.1_Silent_p.F824F	p.F943F			Q9BXX3	AN30A_HUMAN			34	2928	+			997					Q5W025	Silent	SNP	ENST00000602533.1	37	c.2829C>T																																																																																					0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		64	667	0	0	0	1	0	64	667				
CRYBB2	1415	broad.mit.edu	37	22	25625529	25625529	+	Missense_Mutation	SNP	C	C	T	rs2330991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25625529C>T	ENST00000398215.2	+	5	604	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	145	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GTCATCTGTGCGGGTGCAGAG	0.567																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(433-435)Cgg>Tgg		crystallin, beta B2							88.0	66.0	74.0					22																	25625529		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25625529C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.433C>T	22.37:g.25625529C>T	ENSP00000381273:p.Arg145Trp						p.R145W	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			5	604	+			145			Beta/gamma crystallin 'Greek key' 3.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.433C>T	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179679	0.57800	.	.	ENSG00000244752	ENST00000398215	T	0.78595	-1.19	5.0	1.17	0.20885	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	H	0.94503	3.545	0.58432	D	0.999995	D	0.76494	0.999	D	0.71870	0.975	D	0.92011	0.5618	10	0.66056	D	0.02	.	14.3933	0.66994	0.3923:0.6077:0.0:0.0	rs2330991	145	P43320	CRBB2_HUMAN	W	145	ENSP00000381273:R145W	ENSP00000381273:R145W	R	+	1	2	CRYBB2	23955529	0.950000	0.32346	0.848000	0.33437	0.970000	0.65996	0.103000	0.15292	0.480000	0.27534	-0.188000	0.12872	CGG		0.567	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		30	149	0	0	0	1	0	30	149				
ZDHHC17	23390	broad.mit.edu	37	12	77208931	77208931	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77208931A>G	ENST00000426126.2	+	6	1198	c.549A>G	c.(547-549)gtA>gtG	p.V183V	ZDHHC17_ENST00000359019.4_Silent_p.V133V|ZDHHC17_ENST00000334822.5_Silent_p.V183V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	183					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATCAGGATGTAGATATGATGG	0.308																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(547-549)gtA>gtG		zinc finger, DHHC-type containing 17							42.0	40.0	41.0					12																	77208931		1810	4059	5869	SO:0001819	synonymous_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77208931A>G	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.549A>G	12.37:g.77208931A>G						ZDHHC17_ENST00000334822.5_Silent_p.V183V|ZDHHC17_ENST00000359019.4_Silent_p.V133V	p.V183V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			6	1198	+			183					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.549A>G	CCDS44946.1																																																																																				0.308	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	34	0	0	0	1	0	3	34				
C9orf131	138724	broad.mit.edu	37	9	35044417	35044417	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35044417C>A	ENST00000312292.5	+	2	1838	c.1791C>A	c.(1789-1791)tcC>tcA	p.S597S	C9orf131_ENST00000421362.2_Silent_p.S549S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.S524S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	597										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAAAAAACTCCTGGGCCTCTA	0.522																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1789-1791)tcC>tcA		chromosome 9 open reading frame 131							107.0	109.0	108.0					9																	35044417		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35044417C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1791C>A	9.37:g.35044417C>A						C9orf131_ENST00000354479.5_Silent_p.S524S|C9orf131_ENST00000421362.2_Silent_p.S549S	p.S597S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1838	+	all_epithelial(49;0.22)		597					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.1791C>A	CCDS6572.2																																																																																				0.522	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		184	635	1	0	3.95954e-90	1	5.08228e-90	184	635				
DZIP3	9666	broad.mit.edu	37	3	108363438	108363438	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108363438G>A	ENST00000361582.3	+	14	1799	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	DZIP3_ENST00000463306.1_Silent_p.E523E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	523					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTCTCACTGAGTCACAGTTCA	0.408																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1567-1569)gaG>gaA		DAZ interacting zinc finger protein 3							125.0	127.0	126.0					3																	108363438		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363438G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1569G>A	3.37:g.108363438G>A						DZIP3_ENST00000463306.1_Silent_p.E523E	p.E523E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1799	+			523					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.1569G>A	CCDS2952.1																																																																																				0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		16	469	0	0	0	1	0	16	469				
HEATR2	54919	broad.mit.edu	37	7	814759	814759	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:814759C>T	ENST00000297440.6	+	11	2219	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	HEATR2_ENST00000313147.5_Silent_p.G733G|HEATR2_ENST00000403952.3_Silent_p.G158G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	733						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACCTCGGGCGGCATGACGG	0.512											OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(2197-2199)ggC>ggT		HEAT repeat containing 2							109.0	103.0	105.0					7																	814759		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:814759C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2199C>T	7.37:g.814759C>T			OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	HEATR2_ENST00000313147.5_Silent_p.G733G|HEATR2_ENST00000403952.3_Silent_p.G158G	p.G733G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	11	2219	+		Ovarian(82;0.0112)	733					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.2199C>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	4.211	0.037850	0.08148	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.15	-6.33	0.01988	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38887	-0.9640	4	.	.	.	-8.5751	11.3342	0.49494	0.0:0.2364:0.6131:0.1504	.	.	.	.	W	535	.	.	R	+	1	2	HEATR2	781285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.031000	0.03308	-0.367000	0.07326	CGG		0.512	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		45	194	0	0	0	1	0	45	194				
COL4A6	1288	broad.mit.edu	37	X	107423784	107423784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107423784G>A	ENST00000372216.4	-	25	2195	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P698S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P699S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	699	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGACTCCCTGGCTCTCCTTTA	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2095-2097)Cca>Tca		collagen, type IV, alpha 6							64.0	50.0	55.0					X																	107423784		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107423784G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2095C>T	X.37:g.107423784G>A	ENSP00000361290:p.Pro699Ser					COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P698S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P699S	p.P699S			Q14031	CO4A6_HUMAN			25	2326	-			699			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.2095C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614929	0.14129	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.16	4.29	0.51040	.	0.417786	0.18228	N	0.147645	D	0.97629	0.9223	M	0.62088	1.915	0.09310	N	0.999991	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	0.995;0.992;1.0;0.989	D	0.93118	0.6522	10	0.40728	T	0.16	.	11.1653	0.48539	0.0:0.1351:0.7218:0.143	.	698;698;699;698	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	699;698;699;698;698;698	ENSP00000361290:P699S;ENSP00000334733:P698S;ENSP00000378340:P699S;ENSP00000443707:P698S;ENSP00000445236:P698S	ENSP00000334733:P698S	P	-	1	0	COL4A6	107310440	0.009000	0.17119	0.010000	0.14722	0.016000	0.09150	1.545000	0.36169	1.230000	0.43646	0.513000	0.50165	CCA		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			44	118	0	0	0	1	0	44	118				
ITGA3	3675	broad.mit.edu	37	17	48158697	48158697	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48158697C>A	ENST00000320031.8	+	23	3174	c.2844C>A	c.(2842-2844)gtC>gtA	p.V948V	ITGA3_ENST00000007722.7_Silent_p.V948V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	948					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTGACCGAGTCCGGGTAAATG	0.547																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2842-2844)gtC>gtA		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							83.0	61.0	68.0					17																	48158697		2203	4298	6501	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48158697C>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2844C>A	17.37:g.48158697C>A						ITGA3_ENST00000007722.7_Silent_p.V948V	p.V948V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			23	3174	+			948					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.2844C>A	CCDS11558.1																																																																																				0.547	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		7	47	1	0	0.00448238	1	0.00451339	7	47				
AGA	175	broad.mit.edu	37	4	178360778	178360778	+	Missense_Mutation	SNP	G	G	A	rs386833423		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178360778G>A	ENST00000264595.2	-	3	473	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	116					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTACTTTCCGTGCCACACCA	0.363																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(346-348)Cgg>Tgg		aspartylglucosaminidase							222.0	212.0	216.0					4																	178360778		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178360778G>A	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.346C>T	4.37:g.178360778G>A	ENSP00000264595:p.Arg116Trp					AGA_ENST00000506853.1_5'UTR	p.R116W	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	3	473	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	116					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.346C>T	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923781	0.73213	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.90133	-2.62;-2.45	5.93	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.96592	0.8888	H	0.95470	3.675	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.96986	0.9718	10	0.59425	D	0.04	-20.7211	15.6822	0.77381	0.0:0.0:0.7797:0.2203	.	116	P20933	ASPG_HUMAN	W	116;1	ENSP00000264595:R116W;ENSP00000423798:R1W	ENSP00000264595:R116W	R	-	1	2	AGA	178597772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.024000	0.49674	2.805000	0.96524	0.655000	0.94253	CGG		0.363	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		164	880	0	0	0	1	0	164	880				
DCC	1630	broad.mit.edu	37	18	50592518	50592518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50592518C>A	ENST00000442544.2	+	7	1859	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	DCC_ENST00000581580.1_Missense_Mutation_p.L70I|DCC_ENST00000412726.1_Missense_Mutation_p.L263I|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	415	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGTGCACAGCTCATTGTCCC	0.428																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1243-1245)Ctc>Atc		deleted in colorectal carcinoma							147.0	131.0	137.0					18																	50592518		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50592518C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1243C>A	18.37:g.50592518C>A	ENSP00000389140:p.Leu415Ile					DCC_ENST00000581580.1_Missense_Mutation_p.L70I|DCC_ENST00000412726.1_Missense_Mutation_p.L263I|DCC_ENST00000580146.1_3'UTR	p.L415I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	7	1859	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	415			Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1243C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238434	0.39598	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.89746	-2.56;-2.56	5.01	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.92835	0.7721	M	0.66378	2.025	0.44562	D	0.997522	P;P;P	0.46220	0.584;0.874;0.844	P;P;D	0.68621	0.744;0.833;0.959	D	0.92639	0.6123	10	0.59425	D	0.04	.	12.1051	0.53807	0.0:0.9141:0.0:0.0859	.	263;263;415	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	415;348;263	ENSP00000389140:L415I;ENSP00000397322:L263I	ENSP00000304146:L348I	L	+	1	0	DCC	48846516	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.402000	0.59722	2.497000	0.84241	0.650000	0.86243	CTC		0.428	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		91	311	1	0	1.68508e-47	1	2.07469e-47	91	311				
PRELP	5549	broad.mit.edu	37	1	203452334	203452334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203452334C>A	ENST00000343110.2	+	2	149	c.22C>A	c.(22-24)Ctc>Atc	p.L8I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	8					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTGCTGGCTCCTCCCACT	0.592																																						ENST00000343110.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(22-24)Ctc>Atc		proline/arginine-rich end leucine-rich repeat protein							85.0	89.0	87.0					1																	203452334		2203	4298	6501	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452334C>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.22C>A	1.37:g.203452334C>A	ENSP00000343924:p.Leu8Ile						p.L8I	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	149	+			8					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.22C>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215986	0.39201	.	.	ENSG00000188783	ENST00000343110	T	0.42900	0.96	5.09	-0.72	0.11195	.	0.975835	0.08385	N	0.953853	T	0.18087	0.0434	N	0.08118	0	0.35990	D	0.836638	B	0.06786	0.001	B	0.04013	0.001	T	0.37753	-0.9692	10	0.13470	T	0.59	-1.156	4.4875	0.11797	0.234:0.4619:0.2291:0.075	.	8	P51888	PRELP_HUMAN	I	8	ENSP00000343924:L8I	ENSP00000343924:L8I	L	+	1	0	PRELP	201718957	0.069000	0.21087	1.000000	0.80357	0.988000	0.76386	-1.025000	0.03600	0.151000	0.19162	0.462000	0.41574	CTC		0.592	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		134	674	1	0	1.35261e-66	1	1.71214e-66	134	674				
PRKAB1	5564	broad.mit.edu	37	12	120114475	120114475	+	Splice_Site	SNP	C	C	T	rs146667625	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120114475C>T	ENST00000229328.5	+	5	1158	c.666C>T	c.(664-666)tcC>tcT	p.S222S	PRKAB1_ENST00000540121.1_Splice_Site_p.S56S|PRKAB1_ENST00000541640.1_Splice_Site_p.S222S	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	222					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	CGGGGATTTCCGTAAGTATGT	0.572																																						ENST00000229328.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.e5+1		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Adenosine monophosphate(DB00131)|Metformin(DB00331)	C		0,4406		0,0,2203	109.0	100.0	103.0		666	-11.0	0.2	12	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice	PRKAB1	NM_006253.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		222/271	120114475	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120114475C>T	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.666+1C>T	12.37:g.120114475C>T						PRKAB1_ENST00000541640.1_Splice_Site_p.S222_splice|PRKAB1_ENST00000540121.1_Splice_Site_p.S56_splice	p.S222_splice	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	5	1158	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		222					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Splice_Site	SNP	ENST00000229328.5	37	c.666_splice	CCDS9191.1																																																																																				0.572	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253	Silent	42	170	0	0	0	1	0	42	170				
TPK1	27010	broad.mit.edu	37	7	144288631	144288631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144288631G>A	ENST00000360057.3	-	7	488	c.386C>T	c.(385-387)gCt>gTt	p.A129V	TPK1_ENST00000549981.1_Missense_Mutation_p.A12V|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	129					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAAACGCCCAGCAAGGCCTCC	0.408																																					Ovarian(45;88 1034 2073 5829 28455)	ENST00000549981.1																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(34-36)gCt>gTt		thiamin pyrophosphokinase 1	Thiamine(DB00152)						89.0	87.0	88.0					7																	144288631		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144288631G>A	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.386C>T	7.37:g.144288631G>A	ENSP00000353165:p.Ala129Val					TPK1_ENST00000360057.3_Missense_Mutation_p.A129V|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron	p.A12V			Q9H3S4	TPK1_HUMAN			9	758	-			129					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.35C>T	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631484	0.46944	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	D;D	0.82711	-1.64;-1.64	5.78	0.307	0.15811	Thiamin pyrophosphokinase, catalytic domain (3);	0.349077	0.31134	N	0.008191	T	0.80177	0.4575	M	0.71581	2.175	0.09310	N	1	P	0.44478	0.836	B	0.34452	0.183	T	0.75365	-0.3343	10	0.87932	D	0	-2.8133	19.4398	0.94813	0.0:0.7357:0.2643:0.0	.	129	Q9H3S4	TPK1_HUMAN	V	129;12;129	ENSP00000353165:A129V;ENSP00000448655:A129V	ENSP00000353165:A129V	A	-	2	0	TPK1	143919564	0.033000	0.19621	0.018000	0.16275	0.912000	0.54170	0.557000	0.23454	0.048000	0.15891	0.655000	0.94253	GCT		0.408	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		69	307	0	0	0	1	0	69	307				
KIAA1841	84542	broad.mit.edu	37	2	61304140	61304140	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61304140A>G	ENST00000402291.1	+	6	758	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	173										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATATCAGAAATGAAGTACTT	0.383																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(517-519)Atg>Gtg		KIAA1841							90.0	93.0	92.0					2																	61304140		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61304140A>G	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.517A>G	2.37:g.61304140A>G	ENSP00000385579:p.Met173Val					KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V|KIAA1841_ENST00000482513.1_3'UTR	p.M173V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		6	758	+			173					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.517A>G	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473755	0.84640	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	M	0.87900	2.915	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.61710	-0.7007	10	0.87932	D	0	-20.5762	16.013	0.80417	1.0:0.0:0.0:0.0	.	173;173;173	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	V	173	ENSP00000385579:M173V;ENSP00000295031:M173V;ENSP00000349154:M173V;ENSP00000416795:M173V	ENSP00000295031:M173V	M	+	1	0	KIAA1841	61157644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.183000	0.69458	0.528000	0.53228	ATG		0.383	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		91	457	0	0	0	1	0	91	457				
NOTCH2NL	388677	broad.mit.edu	37	1	145281532	145281532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145281532G>T	ENST00000369340.3	+	5	906	c.462G>T	c.(460-462)caG>caT	p.Q154H	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q154H|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q154H|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.Q154H			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	154	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACACTGCCAGCATGGTGGCA	0.567																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(460-462)caG>caT		notch 2 N-terminal like							176.0	180.0	178.0					1																	145281532		2203	4298	6501	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281532G>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.462G>T	1.37:g.145281532G>T	ENSP00000358346:p.Gln154His					NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q154H|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q154H|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.Q154H	p.Q154H			Q7Z3S9	NT2NL_HUMAN			5	906	+			154			EGF-like 5; calcium-binding (Potential).		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.462G>T	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332624	0.24167	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.98437	-4.93;-4.93;-4.93	2.87	1.9	0.25705	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91905	0.7437	L	0.39326	1.205	0.22171	N	0.99932	B;B	0.21381	0.028;0.055	B;B	0.27715	0.018;0.082	D	0.87636	0.2519	9	0.48119	T	0.1	.	4.6414	0.12550	0.3296:0.0:0.6704:0.0	.	154;154	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	H	154	ENSP00000354929:Q154H;ENSP00000344557:Q154H;ENSP00000358346:Q154H	ENSP00000344557:Q154H	Q	+	3	2	NOTCH2NL	143992889	0.965000	0.33210	0.991000	0.47740	0.926000	0.56050	0.108000	0.15396	0.497000	0.27926	0.400000	0.26472	CAG		0.567	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		74	1415	1	0	1.00776e-21	1	1.13667e-21	74	1415				
ALPK1	80216	broad.mit.edu	37	4	113303625	113303625	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113303625A>G	ENST00000458497.1	+	4	472	c.193A>G	c.(193-195)Aag>Gag	p.K65E	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	65							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGCCTGAAAAGTGGCAGTA	0.522																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(193-195)Aag>Gag		alpha-kinase 1							86.0	74.0	78.0					4																	113303625		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113303625A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.193A>G	4.37:g.113303625A>G	ENSP00000398048:p.Lys65Glu					ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E|ALPK1_ENST00000504176.2_Intron	p.K65E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	4	472	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	65					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.193A>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406216	0.83230	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.25085	1.82;1.82	5.63	5.63	0.86233	.	0.048760	0.85682	D	0.000000	T	0.49898	0.1584	M	0.73598	2.24	0.80722	D	1	P;D;D	0.69078	0.925;0.997;0.99	P;P;P	0.62740	0.54;0.906;0.768	T	0.54384	-0.8302	10	0.87932	D	0	-26.2083	15.839	0.78831	1.0:0.0:0.0:0.0	.	40;65;65	E7EX13;Q96QP1;B3KUH8	.;ALPK1_HUMAN;.	E	65;65;40	ENSP00000398048:K65E;ENSP00000177648:K65E	ENSP00000177648:K65E	K	+	1	0	ALPK1	113523074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.470000	0.73558	2.130000	0.65690	0.533000	0.62120	AAG		0.522	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		45	218	0	0	0	1	0	45	218				
ACAD11	84129	broad.mit.edu	37	3	132358437	132358437	+	Silent	SNP	G	G	A	rs144758147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132358437G>A	ENST00000264990.6	-	5	1572	c.601C>T	c.(601-603)Cta>Tta	p.L201L	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Silent_p.L201L|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Silent_p.L201L	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	201					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CACTCCGATAGCTGTTGCATG	0.388																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(601-603)Cta>Tta		acyl-CoA dehydrogenase family, member 11		G		0,4406		0,0,2203	85.0	82.0	83.0		601	4.0	0.6	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACAD11	NM_032169.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		201/781	132358437	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84129							g.chr3:132358437G>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.601C>T	3.37:g.132358437G>A						ACAD11_ENST00000355458.3_Silent_p.L201L|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Silent_p.L201L|ACAD11_ENST00000545291.1_5'UTR	p.L201L	NM_032169.4	NP_115545.3					5	1572	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	37	c.601C>T	CCDS3074.1																																																																																				0.388	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		47	216	0	0	0	1	0	47	216				
LOC101927079	101927079	broad.mit.edu	37	15	22332434	22332434	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22332434T>C	ENST00000558896.1	+	0	241																											GATTCTAACGTGACAGAACTT	0.348																																						ENST00000558896.1																			0																																																			0							g.chr15:22332434T>C																													15.37:g.22332434T>C														0	241	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.348	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			7	317	0	0	0	1	0	7	317				
ZNF282	8427	broad.mit.edu	37	7	148921304	148921304	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921304C>T	ENST00000262085.3	+	8	1686	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	527					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GCAAGAGCTTCGGCGTGCGCA	0.697																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1579-1581)ttC>ttT		zinc finger protein 282							25.0	24.0	25.0					7																	148921304		2203	4299	6502	SO:0001819	synonymous_variant	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921304C>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1581C>T	7.37:g.148921304C>T						ZNF282_ENST00000479907.1_Intron	p.F527F	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1686	+	Melanoma(164;0.15)		527					B4DRI5|O43691|Q6DKK0	Silent	SNP	ENST00000262085.3	37	c.1581C>T	CCDS5895.1																																																																																				0.697	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		39	155	0	0	0	1	0	39	155				
WRAP73	49856	broad.mit.edu	37	1	3564022	3564022	+	Missense_Mutation	SNP	C	C	T	rs138332031		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3564022C>T	ENST00000270708.7	-	2	245	c.172G>A	c.(172-174)Gca>Aca	p.A58T	WRAP73_ENST00000378322.3_Missense_Mutation_p.A58T	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	58						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGCGAGTCTGCCGACCACTCG	0.577																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(172-174)Gca>Aca		WD repeat containing, antisense to TP73							114.0	84.0	94.0					1																	3564022		2202	4300	6502	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3564022C>T	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.172G>A	1.37:g.3564022C>T	ENSP00000270708:p.Ala58Thr					WRAP73_ENST00000270708.7_Missense_Mutation_p.A58T	p.A58T			Q9P2S5	WRP73_HUMAN			2	230	-			58					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.172G>A	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577458	0.28180	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	T;T;T	0.41400	1.0;1.0;1.0	5.13	5.13	0.70059	Six-bladed beta-propeller, TolB-like (1);	0.051689	0.85682	D	0.000000	T	0.28366	0.0701	N	0.14661	0.345	0.41919	D	0.990501	B;P;P	0.40578	0.259;0.722;0.707	B;B;B	0.40066	0.108;0.118;0.318	T	0.12734	-1.0536	10	0.54805	T	0.06	-28.5879	11.7614	0.51905	0.2782:0.7218:0.0:0.0	.	58;58;58	B4DYE9;Q9P2S5;Q5T0D5	.;WRP73_HUMAN;.	T	58	ENSP00000270708:A58T;ENSP00000367573:A58T;ENSP00000416192:A58T	ENSP00000270708:A58T	A	-	1	0	WRAP73	3553882	1.000000	0.71417	0.225000	0.23894	0.238000	0.25445	4.581000	0.60949	2.519000	0.84933	0.655000	0.94253	GCA		0.577	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			20	114	0	0	0	1	0	20	114				
MMP26	56547	broad.mit.edu	37	11	5013323	5013323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013323C>T	ENST00000380390.1	+	6	941	c.725C>T	c.(724-726)gCc>gTc	p.A242V	MMP26_ENST00000300762.1_Missense_Mutation_p.A242V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	242					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CAGCTCAGTGCCGATGATATC	0.473																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(724-726)gCc>gTc		matrix metallopeptidase 26							86.0	76.0	79.0					11																	5013323		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013323C>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.725C>T	11.37:g.5013323C>T	ENSP00000369753:p.Ala242Val					MMP26_ENST00000300762.1_Missense_Mutation_p.A242V	p.A242V			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	6	941	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	242					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.725C>T	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186778	0.09547	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21361	2.01;2.01	3.67	-7.35	0.01422	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	3.244940	0.01367	N	0.012424	T	0.09247	0.0228	N	0.13003	0.285	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20605	-1.0270	10	0.18710	T	0.47	2.2155	2.3356	0.04247	0.4996:0.2435:0.0974:0.1596	.	242	Q9NRE1	MMP26_HUMAN	V	242	ENSP00000369753:A242V;ENSP00000300762:A242V	ENSP00000300762:A242V	A	+	2	0	MMP26	4969899	0.000000	0.05858	0.023000	0.16930	0.100000	0.18952	0.191000	0.17076	-2.462000	0.00535	-0.310000	0.09108	GCC		0.473	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		23	279	0	0	0	1	0	23	279				
NPBWR1	2831	broad.mit.edu	37	8	53852661	53852661	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53852661C>T	ENST00000331251.3	+	1	1671	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	65					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGCTGCGGGCGCCCCGCATG	0.657																																						ENST00000331251.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17						c.(193-195)gCg>gTg		neuropeptides B/W receptor 1							50.0	39.0	43.0					8																	53852661		2203	4300	6503	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852661C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.194C>T	8.37:g.53852661C>T	ENSP00000330284:p.Ala65Val						p.A65V	NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN			1	1671	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	65					Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.194C>T	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778037	0.70107	.	.	ENSG00000183729	ENST00000331251	T	0.72282	-0.64	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.114616	0.37012	N	0.002294	T	0.69869	0.3159	M	0.71581	2.175	0.41409	D	0.987729	P	0.35527	0.507	B	0.34590	0.186	T	0.74435	-0.3666	10	0.66056	D	0.02	.	14.9469	0.71039	0.0:0.8562:0.1438:0.0	.	65	P48145	NPBW1_HUMAN	V	65	ENSP00000330284:A65V	ENSP00000330284:A65V	A	+	2	0	NPBWR1	54015214	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.428000	0.80296	1.197000	0.43143	0.655000	0.94253	GCG		0.657	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		30	167	0	0	0	1	0	30	167				
CD5	921	broad.mit.edu	37	11	60886791	60886791	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60886791T>C	ENST00000347785.3	+	5	715	c.549T>C	c.(547-549)ggT>ggC	p.G183G		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCCTGGGGGGTACCATCAGCT	0.612																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(547-549)ggT>ggC		CD5 molecule							56.0	60.0	59.0					11																	60886791		2203	4299	6502	SO:0001819	synonymous_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60886791T>C	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.549T>C	11.37:g.60886791T>C							p.G183G	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	5	715	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	183			SRCR 2.		A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	c.549T>C	CCDS8000.1																																																																																				0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		81	375	0	0	0	1	0	81	375				
SPOPL	339745	broad.mit.edu	37	2	139318378	139318378	+	Nonsense_Mutation	SNP	C	C	T	rs564888975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:139318378C>T	ENST00000280098.4	+	8	1097	c.718C>T	c.(718-720)Cga>Tga	p.R240*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	240	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATATCAGAATCGAGTGGAAAT	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		15678	0.0		0.0	False		,,,				2504	0.001					ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(718-720)Cga>Tga		speckle-type POZ protein-like							53.0	56.0	55.0					2																	139318378		2203	4300	6503	SO:0001587	stop_gained	339745					nucleus		g.chr2:139318378C>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.718C>T	2.37:g.139318378C>T	ENSP00000280098:p.Arg240*						p.R240*	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	8	1097	+			240			BTB.			Nonsense_Mutation	SNP	ENST00000280098.4	37	c.718C>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	C	40	8.236883	0.98719	.	.	ENSG00000144228	ENST00000280098	.	.	.	5.15	5.15	0.70609	.	0.192219	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.6407	13.8908	0.63738	0.1525:0.8475:0.0:0.0	.	.	.	.	X	240	.	.	R	+	1	2	SPOPL	139034848	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.890000	0.69774	2.554000	0.86153	0.591000	0.81541	CGA		0.313	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			22	212	0	0	0	1	0	22	212				
PCDHB3	56132	broad.mit.edu	37	5	140480177	140480177	+	5'Flank	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480177G>T	ENST00000231130.2	+	0	0				AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3						calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTTCCCAGCTCTGTCTGA	0.522																																						ENST00000607216.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr5:140480177G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622		5.37:g.140480177G>T	Exception_encountered													0	232	-								B2R8P2	RNA	SNP	ENST00000231130.2	37		CCDS4245.1																																																																																				0.522	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		42	184	1	0	3.61848e-18	1	4.01023e-18	42	184				
LZTS2	84445	broad.mit.edu	37	10	102765260	102765260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102765260C>A	ENST00000370220.1	+	3	4177	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCGTGAGGCCCTGCGAGAGGA	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1114-1116)Ctg>Atg		leucine zipper, putative tumor suppressor 2							20.0	24.0	22.0					10																	102765260		2197	4289	6486	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102765260C>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1114C>A	10.37:g.102765260C>A	ENSP00000359240:p.Leu372Met					LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M	p.L372M			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	4177	+			372						Missense_Mutation	SNP	ENST00000370220.1	37	c.1114C>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152810	0.57259	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.53206	0.63;0.63	4.32	4.32	0.51571	.	0.173586	0.37809	N	0.001924	T	0.61565	0.2357	M	0.80508	2.5	0.39210	D	0.96329	D	0.54601	0.967	P	0.57548	0.823	T	0.68337	-0.5435	10	0.72032	D	0.01	0.7177	8.2205	0.31539	0.0:0.8148:0.0:0.1851	.	372	Q9BRK4	LZTS2_HUMAN	M	372	ENSP00000359243:L372M;ENSP00000359240:L372M	ENSP00000314437:L372M	L	+	1	2	LZTS2	102755250	0.068000	0.21057	0.996000	0.52242	0.885000	0.51271	0.948000	0.29096	1.960000	0.56953	0.561000	0.74099	CTG		0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		60	238	1	0	1.80625e-27	1	2.09175e-27	60	238				
EXD3	54932	broad.mit.edu	37	9	140218237	140218237	+	Missense_Mutation	SNP	C	C	A	rs575618411		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140218237C>A	ENST00000340951.4	-	19	2319	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGAGCACAGCCTTGGCCTGCT	0.667																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(2122-2124)aaG>aaT		exonuclease 3'-5' domain containing 3																																				SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140218237C>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2124G>T	9.37:g.140218237C>A	ENSP00000340474:p.Lys708Asn					EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	p.K708N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			19	2319	-			708					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.2124G>T	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833936	0.16820	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.65364	-0.15;0.65	3.9	0.306	0.15806	.	0.652919	0.14754	N	0.300382	T	0.66247	0.2770	M	0.63843	1.955	0.09310	N	1	D;D	0.60160	0.979;0.987	P;P	0.58520	0.785;0.84	T	0.54814	-0.8237	10	0.45353	T	0.12	.	5.5666	0.17175	0.0:0.499:0.2567:0.2443	.	359;708	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	359;708	ENSP00000343705:K359N;ENSP00000340474:K708N	ENSP00000340474:K708N	K	-	3	2	EXD3	139338058	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.033000	0.13754	0.112000	0.17975	0.305000	0.20034	AAG		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		72	269	1	0	1.15062e-32	1	1.35981e-32	72	269				
HOXA11	3207	broad.mit.edu	37	7	27222562	27222562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27222562G>A	ENST00000006015.3	-	2	866	c.795C>T	c.(793-795)taC>taT	p.Y265Y	RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	265					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CTTTGTTAATGTAGACGCTGA	0.493			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(793-795)taC>taT		homeobox A11							92.0	94.0	93.0					7																	27222562		2203	4300	6503	SO:0001819	synonymous_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222562G>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.795C>T	7.37:g.27222562G>A							p.Y265Y	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	866	-			265					A4D190	Silent	SNP	ENST00000006015.3	37	c.795C>T	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	6.399	0.441812	0.12164	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.91	-1.18	0.09617	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	.	11.4646	0.50230	0.5571:0.0:0.4429:0.0	.	.	.	.	I	235	.	.	T	-	2	0	HOXA11	27189087	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	1.168000	0.31859	-0.109000	0.12044	-0.982000	0.02568	ACA		0.493	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			115	525	0	0	0	1	0	115	525				
BRD4	23476	broad.mit.edu	37	19	15366169	15366169	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15366169G>A	ENST00000263377.2	-	10	2207	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Silent_p.S662S|BRD4_ENST00000360016.5_Silent_p.S662S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	662	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACGCAGTGTGGACGGCTTCA	0.582			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1984-1986)tcC>tcT		bromodomain containing 4							78.0	73.0	75.0					19																	15366169		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15366169G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1986C>T	19.37:g.15366169G>A						BRD4_ENST00000360016.5_Silent_p.S662S|BRD4_ENST00000371835.4_Silent_p.S662S	p.S662S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		10	2207	-			662					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.1986C>T	CCDS12328.1																																																																																				0.582	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		20	363	0	0	0	1	0	20	363				
SELO	83642	broad.mit.edu	37	22	50648614	50648614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50648614C>T	ENST00000380903.2	+	4	1002	c.944C>T	c.(943-945)aCg>aTg	p.T315M	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		315													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCCCAGGTGACGCGGCGCACG	0.662											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380903.2																			0											c.(943-945)aCg>aTg									32.0	40.0	37.0					22																	50648614		2138	4225	6363	SO:0001583	missense	0							g.chr22:50648614C>T																												ENST00000380903.2:c.944C>T	22.37:g.50648614C>T	ENSP00000370288:p.Thr315Met		OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	RP3-402G11.5_ENST00000492092.1_3'UTR	p.T315M	NM_031454.1	NP_113642.1					4	1002	+								Q2TAL2|Q5JZ81|Q8WUI0	Missense_Mutation	SNP	ENST00000380903.2	37	c.944C>T	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260669	0.59431	.	.	ENSG00000073169	ENST00000380903	T	0.41758	0.99	5.19	3.05	0.35203	.	0.211356	0.49305	D	0.000146	T	0.37839	0.1018	L	0.33245	0.995	0.48185	D	0.999602	P;P	0.52577	0.95;0.954	P;B	0.49361	0.608;0.36	T	0.07214	-1.0784	10	0.37606	T	0.19	.	10.5425	0.45041	0.0:0.7939:0.1337:0.0724	.	315;158	Q9BVL4;Q6ICA4	SELO_HUMAN;.	M	315	ENSP00000370288:T315M	ENSP00000370288:T315M	T	+	2	0	RP3-402G11.5	48990741	0.946000	0.32159	0.618000	0.29105	0.700000	0.40528	1.945000	0.40273	0.721000	0.32231	0.561000	0.74099	ACG		0.662	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2			58	197	0	0	0	1	0	58	197				
UROC1	131669	broad.mit.edu	37	3	126211352	126211352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126211352C>T	ENST00000290868.2	-	16	1570	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	506					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)		TGCCTGGGAGCCCACCACCTG	0.602																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1516-1518)gGc>gAc		urocanate hydratase 1							78.0	55.0	63.0					3																	126211352		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126211352C>T	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.1517G>A	3.37:g.126211352C>T	ENSP00000290868:p.Gly506Asp					UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	p.G506D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	16	1570	-			506					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1517G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593557	0.86953	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.72725	-0.68;-0.68	4.79	4.79	0.61399	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	H	0.97918	4.105	0.80722	D	1	D;D	0.56035	0.965;0.974	P;D	0.68192	0.866;0.956	D	0.93392	0.6752	10	0.87932	D	0	-20.383	15.3337	0.74234	0.0:1.0:0.0:0.0	.	566;506	E9PE13;Q96N76	.;HUTU_HUMAN	D	506;566	ENSP00000290868:G506D;ENSP00000373073:G566D	ENSP00000290868:G506D	G	-	2	0	UROC1	127694042	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.942000	0.75928	2.189000	0.69895	0.484000	0.47621	GGC		0.602	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		27	94	0	0	0	1	0	27	94				
UBXN6	80700	broad.mit.edu	37	19	4454072	4454072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4454072C>A	ENST00000301281.6	-	2	226	c.102G>T	c.(100-102)gaG>gaT	p.E34D	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	34						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGTTGGGCTTCTCTTTGTGGG	0.647																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(100-102)gaG>gaT		UBX domain protein 6							104.0	120.0	114.0					19																	4454072		2203	4300	6503	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454072C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.102G>T	19.37:g.4454072C>A	ENSP00000301281:p.Glu34Asp					CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	p.E34D	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			2	226	-			34					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.102G>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	6.605	0.479950	0.12581	.	.	ENSG00000167671	ENST00000301281	T	0.42513	0.97	4.13	-8.12	0.01078	.	1.423740	0.04598	N	0.397999	T	0.23649	0.0572	L	0.31294	0.92	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.16541	-1.0399	10	0.13470	T	0.59	-2.1917	7.2936	0.26380	0.0:0.4968:0.3083:0.1948	.	34	Q9BZV1	UBXN6_HUMAN	D	34	ENSP00000301281:E34D	ENSP00000301281:E34D	E	-	3	2	UBXN6	4405072	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-1.062000	0.03468	-1.133000	0.02903	0.484000	0.47621	GAG		0.647	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		31	1000	1	0	4.59853e-10	1	4.86106e-10	31	1000				
TOR1AIP2	163590	broad.mit.edu	37	1	179820358	179820358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179820358C>A	ENST00000367612.3	-	4	562	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.E59*	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TCTGGACCTTCTGTCTCTACC	0.448																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(175-177)Gaa>Taa		torsin A interacting protein 2							160.0	154.0	156.0					1																	179820358		2203	4300	6503	SO:0001587	stop_gained	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820358C>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.175G>T	1.37:g.179820358C>A	ENSP00000356584:p.Glu59*						p.E59*	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			4	562	-			59					Q05BU2	Nonsense_Mutation	SNP	ENST00000367612.3	37	c.175G>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978373	0.74360	.	.	ENSG00000169905	ENST00000367612	.	.	.	5.14	-8.88	0.00789	.	3.756630	0.00582	N	0.000320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	6.5336	9.1746	0.37105	0.1111:0.5317:0.0:0.3572	.	.	.	.	X	59	.	ENSP00000356584:E59X	E	-	1	0	TOR1AIP2	178086981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.196000	0.00276	-1.950000	0.01030	-1.423000	0.01107	GAA		0.448	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		89	483	1	0	3.77759e-48	1	4.65876e-48	89	483				
B4GALNT4	338707	broad.mit.edu	37	11	380400	380400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380400G>A	ENST00000329962.6	+	18	2824	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	942				V -> M (in Ref. 2; BAB71566). {ECO:0000305}.	metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCGCGCCCGTGGTCATGCG	0.692																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2824-2826)Gtg>Atg		beta-1,4-N-acetyl-galactosaminyl transferase 4							48.0	36.0	40.0					11																	380400		2203	4296	6499	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380400G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2824G>A	11.37:g.380400G>A	ENSP00000328277:p.Val942Met						p.V942M	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2824	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	942	V -> M (in Ref. 2; BAB71566).				Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2824G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	9.285	1.049146	0.19827	.	.	ENSG00000182272	ENST00000329962	T	0.20332	2.08	3.81	3.81	0.43845	.	0.060502	0.64402	D	0.000008	T	0.09379	0.0231	N	0.12182	0.205	0.37812	D	0.928063	P	0.41524	0.753	B	0.40477	0.33	T	0.17137	-1.0379	10	0.12430	T	0.62	-32.6499	4.8054	0.13317	0.2853:0.0:0.7147:0.0	.	942	Q76KP1	B4GN4_HUMAN	M	942	ENSP00000328277:V942M	ENSP00000328277:V942M	V	+	1	0	B4GALNT4	370400	1.000000	0.71417	0.915000	0.36163	0.751000	0.42716	5.998000	0.70653	2.118000	0.64928	0.561000	0.74099	GTG		0.692	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		40	132	0	0	0	1	0	40	132				
KLHL24	54800	broad.mit.edu	37	3	183390145	183390145	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183390145A>G	ENST00000454652.2	+	8	1861	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R	KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R|KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	492						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAATTGCCAAAAGGTGTATA	0.363																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1474-1476)aAa>aGa		kelch-like family member 24							118.0	98.0	105.0					3																	183390145		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183390145A>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1475A>G	3.37:g.183390145A>G	ENSP00000395012:p.Lys492Arg					KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R|KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R	p.K492R			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		8	1861	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		492					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.1475A>G	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985839	0.53934	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.56103	0.48;0.48;0.48	5.9	5.9	0.94986	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	N	0.04162	-0.26	0.80722	D	1	D;B	0.56035	0.974;0.025	D;B	0.67725	0.953;0.023	T	0.44421	-0.9329	10	0.02654	T	1	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	492;492	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	R	492	ENSP00000242810:K492R;ENSP00000395012:K492R;ENSP00000419010:K492R	ENSP00000242810:K492R	K	+	2	0	KLHL24	184872839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.257000	0.74773	0.528000	0.53228	AAA		0.363	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		80	360	0	0	0	1	0	80	360				
EIF3C	8663	broad.mit.edu	37	16	28734529	28734529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734529G>A	ENST00000331666.6	+	9	1007	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	EIF3C_ENST00000395587.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000565099.1_3'UTR|EIF3C_ENST00000564243.1_Missense_Mutation_p.R264Q|EIF3C_ENST00000566866.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000566501.1_Missense_Mutation_p.R274Q					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GAGAAGAAACGGGAGGACAAA	0.582																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(820-822)cGg>cAg		eukaryotic translation initiation factor 3, subunit C							155.0	175.0	168.0					16																	28734529		2197	4297	6494	SO:0001583	missense	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734529G>A	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.821G>A	16.37:g.28734529G>A	ENSP00000332604:p.Arg274Gln					EIF3C_ENST00000565099.1_3'UTR|EIF3C_ENST00000566501.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000566866.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000395587.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000564243.1_Missense_Mutation_p.R264Q	p.R274Q			Q99613	EIF3C_HUMAN			9	1007	+			274						Missense_Mutation	SNP	ENST00000331666.6	37	c.821G>A	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.756344	0.49362	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985	.	.	.	4.09	4.09	0.47781	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.547855	0.18524	N	0.138683	T	0.34861	0.0912	N	0.16903	0.455	0.37154	D	0.90227	P;P;P	0.51933	0.949;0.909;0.949	P;B;P	0.45660	0.489;0.113;0.489	T	0.21143	-1.0254	9	0.20519	T	0.43	.	13.7462	0.62876	0.0:0.0:1.0:0.0	.	264;60;274	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	Q	274;274;259	.	ENSP00000332604:R274Q	R	+	2	0	EIF3C	28642030	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.273000	0.51623	2.286000	0.76751	0.442000	0.29010	CGG		0.582	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		56	1151	0	0	0	1	0	56	1151				
C6orf118	168090	broad.mit.edu	37	6	165715084	165715084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715084C>T	ENST00000230301.8	-	2	747	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	C6orf118_ENST00000543069.1_Missense_Mutation_p.A139T	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	243										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCGTGGCCCGCGGCCGCCTTG	0.607																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(415-417)Gcg>Acg		chromosome 6 open reading frame 118							51.0	53.0	52.0					6																	165715084		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715084C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.727G>A	6.37:g.165715084C>T	ENSP00000230301:p.Ala243Thr					C6orf118_ENST00000230301.8_Missense_Mutation_p.A243T	p.A139T			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	996	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	243					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.415G>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836530	0.16891	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13901	2.55;2.55	4.92	-9.32	0.00643	.	3.383220	0.00839	N	0.001730	T	0.01124	0.0037	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.25984	-1.0116	10	0.14656	T	0.56	0.9594	7.83	0.29336	0.0:0.2349:0.4167:0.3484	.	243	Q5T5N4	CF118_HUMAN	T	243;139	ENSP00000230301:A243T;ENSP00000439288:A139T	ENSP00000230301:A243T	A	-	1	0	C6orf118	165635074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.956000	0.01522	-2.139000	0.00807	-1.239000	0.01543	GCG		0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		73	368	0	0	0	1	0	73	368				
AMACR	23600	broad.mit.edu	37	5	33989288	33989288	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33989288T>C	ENST00000335606.6	-	5	1147	c.1059A>G	c.(1057-1059)atA>atG	p.I353M	AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.I338M|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	353					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATTCTTCAAGTATCTCCTCAG	0.453																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(1057-1059)atA>atG		alpha-methylacyl-CoA racemase							91.0	95.0	94.0					5																	33989288		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:33989288T>C	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.1059A>G	5.37:g.33989288T>C	ENSP00000334424:p.Ile353Met					AMACR_ENST00000502637.1_Missense_Mutation_p.I338M|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M	p.I353M	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			5	1147	-			353					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.1059A>G	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653167	0.67472	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.58652	0.32;0.32;0.32	5.6	-3.41	0.04839	CoA-transferase family III domain (1);	0.157701	0.64402	D	0.000020	T	0.64193	0.2576	M	0.83603	2.65	0.80722	D	1	D;D;D	0.56746	0.977;0.96;0.96	D;P;P	0.63877	0.919;0.832;0.832	T	0.62642	-0.6811	10	0.59425	D	0.04	-6.6573	0.5428	0.00648	0.3107:0.1306:0.2361:0.3225	.	353;338;353	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	M	353;353;338	ENSP00000334424:I353M;ENSP00000371517:I353M;ENSP00000424351:I338M	ENSP00000334424:I353M	I	-	3	3	AMACR	34025045	0.408000	0.25360	0.953000	0.39169	0.897000	0.52465	-0.417000	0.07088	-0.358000	0.08162	0.519000	0.50382	ATA		0.453	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		63	311	0	0	0	1	0	63	311				
GLP2R	9340	broad.mit.edu	37	17	9764515	9764515	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9764515G>T	ENST00000262441.5	+	8	1498	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	GLP2R_ENST00000574745.1_Splice_Site_p.G149W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	329					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGAGAACACAGGGTAGGTAAT	0.458																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.e8+1		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						138.0	132.0	134.0					17																	9764515		2203	4300	6503	SO:0001630	splice_region_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9764515G>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.986+1G>T	17.37:g.9764515G>T						GLP2R_ENST00000574745.1_Splice_Site_p.G149_splice	p.G329_splice	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			8	1498	+			329					Q4VAT3	Splice_Site	SNP	ENST00000262441.5	37	c.986_splice	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.037|5.037	0.192458|0.192458	0.09599|0.09599	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.38560|.	1.13|.	5.24|5.24	3.17|3.17	0.36434|0.36434	GPCR, family 2-like (1);|.	0.433344|.	0.17499|.	N|.	0.172059|.	T|T	0.73598|0.73598	0.3607|0.3607	M|M	0.85373|0.85373	2.75|2.75	0.44395|0.44395	D|D	0.997307|0.997307	D|.	0.67145|.	0.996|.	D|.	0.72338|.	0.977|.	T|T	0.73040|0.73040	-0.4108|-0.4108	10|5	0.72032|.	D|.	0.01|.	.|.	8.9082|8.9082	0.35537|0.35537	0.0881:0.1486:0.7633:0.0|0.0881:0.1486:0.7633:0.0	.|.	329|.	O95838|.	GLP2R_HUMAN|.	W|H	329;304;329|181	ENSP00000262441:G329W|.	ENSP00000262441:G329W|.	G|Q	+|+	1|3	0|2	GLP2R|GLP2R	9705240|9705240	0.996000|0.996000	0.38824|0.38824	0.665000|0.665000	0.29768|0.29768	0.137000|0.137000	0.21094|0.21094	2.431000|2.431000	0.44775|0.44775	0.689000|0.689000	0.31550|0.31550	0.655000|0.655000	0.94253|0.94253	GGG|CAG		0.458	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		Missense_Mutation	120	461	1	0	1.04472e-88	1	1.3402e-88	120	461				
SIGLEC12	89858	broad.mit.edu	37	19	52004877	52004877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52004877G>A	ENST00000291707.3	-	1	166	c.111C>T	c.(109-111)ggC>ggT	p.G37G	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	37	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACACACAGGCCCTCCTGCA	0.577																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(109-111)ggC>ggT		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							111.0	82.0	92.0					19																	52004877		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004877G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.111C>T	19.37:g.52004877G>A							p.G37G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	166	-		all_neural(266;0.0199)	37			Ig-like V-type 1.		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.111C>T	CCDS12833.1																																																																																				0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		52	269	0	0	0	1	0	52	269				
C1orf74	148304	broad.mit.edu	37	1	209956186	209956186	+	Missense_Mutation	SNP	G	G	A	rs150951869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956186G>A	ENST00000294811.1	-	2	1050	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	265										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGCCACAGCCGGCAGTGTGAC	0.468																																						ENST00000294811.1																			0				endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15						c.(793-795)cCg>cTg		chromosome 1 open reading frame 74		G	LEU/PRO	0,4406		0,0,2203	106.0	113.0	110.0		794	3.7	0.0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf74	NM_152485.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	265/270	209956186	1,13005	2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956186G>A	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.794C>T	1.37:g.209956186G>A	ENSP00000294811:p.Pro265Leu						p.P265L	NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	1050	-			265						Missense_Mutation	SNP	ENST00000294811.1	37	c.794C>T	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930427	0.52866	0.0	1.16E-4	ENSG00000162757	ENST00000294811	T	0.47528	0.84	5.75	3.65	0.41850	.	0.196250	0.45126	N	0.000382	T	0.44052	0.1275	M	0.65498	2.005	0.80722	D	1	P	0.35192	0.489	B	0.31946	0.138	T	0.42085	-0.9472	10	0.72032	D	0.01	-10.2285	10.4299	0.44400	0.0741:0.0:0.7951:0.1308	.	265	Q96LT6	CA074_HUMAN	L	265	ENSP00000294811:P265L	ENSP00000294811:P265L	P	-	2	0	C1orf74	208022809	1.000000	0.71417	0.014000	0.15608	0.987000	0.75469	5.814000	0.69208	0.618000	0.30179	0.655000	0.94253	CCG		0.468	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		118	553	0	0	0	1	0	118	553				
SLIT2	9353	broad.mit.edu	37	4	20599956	20599956	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20599956C>A	ENST00000504154.1	+	33	3882	c.3630C>A	c.(3628-3630)ctC>ctA	p.L1210L	SLIT2_ENST00000503837.1_Silent_p.L1206L|SLIT2_ENST00000503823.1_Silent_p.L1202L|SLIT2_ENST00000273739.5_Silent_p.L1223L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1210	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGGTAGAACTCTATCGGGGGC	0.473																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3628-3630)ctC>ctA		slit homolog 2 (Drosophila)							162.0	147.0	152.0					4																	20599956		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20599956C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3630C>A	4.37:g.20599956C>A						SLIT2_ENST00000503837.1_Silent_p.L1206L|SLIT2_ENST00000273739.5_Silent_p.L1223L|SLIT2_ENST00000503823.1_Silent_p.L1202L	p.L1210L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			33	3882	+			1210			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3630C>A	CCDS3426.1																																																																																				0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			126	496	1	0	1.81975e-59	1	2.28519e-59	126	496				
SLC35G2	80723	broad.mit.edu	37	3	136573657	136573657	+	Missense_Mutation	SNP	G	G	A	rs377008678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136573657G>A	ENST00000446465.2	+	2	983	c.355G>A	c.(355-357)Gct>Act	p.A119T	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.A119T|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TGGATGTGTAGCTCTTATCAC	0.388																																						ENST00000446465.2																			0											c.(355-357)Gct>Act		solute carrier family 35, member G2							168.0	150.0	156.0					3																	136573657		2203	4300	6503	SO:0001583	missense	80723					Golgi apparatus|integral to membrane		g.chr3:136573657G>A	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.355G>A	3.37:g.136573657G>A	ENSP00000400839:p.Ala119Thr					RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.A119T|RP11-85F14.5_ENST00000474250.1_RNA	p.A119T	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	983	+			119			DUF6 1.			Missense_Mutation	SNP	ENST00000446465.2	37	c.355G>A	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102738	0.76983	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.50001	0.76;0.76	5.44	5.44	0.79542	Drug/metabolite transporter (1);	0.102417	0.64402	D	0.000003	T	0.48960	0.1529	N	0.14661	0.345	0.80722	D	1	D	0.59767	0.986	D	0.64144	0.922	T	0.39251	-0.9623	10	0.15952	T	0.53	.	17.818	0.88640	0.0:0.0:1.0:0.0	.	119	Q8TBE7	TMM22_HUMAN	T	119	ENSP00000400839:A119T;ENSP00000376794:A119T	ENSP00000376794:A119T	A	+	1	0	TMEM22	138056347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.080000	0.94040	2.554000	0.86153	0.491000	0.48974	GCT		0.388	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		25	852	0	0	0	1	0	25	852				
ITPKB	3707	broad.mit.edu	37	1	226925067	226925067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226925067G>A	ENST00000272117.3	-	1	92	c.93C>T	c.(91-93)agC>agT	p.S31S	ITPKB_ENST00000429204.1_Silent_p.S31S|ITPKB_ENST00000366784.1_Silent_p.S31S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	31					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGGGCGTCTCGCTGCCACTGG	0.662																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(91-93)agC>agT		inositol-trisphosphate 3-kinase B							8.0	10.0	10.0					1																	226925067		2062	4062	6124	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226925067G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.93C>T	1.37:g.226925067G>A						ITPKB_ENST00000272117.3_Silent_p.S31S|ITPKB_ENST00000366784.1_Silent_p.S31S	p.S31S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	420	-		Prostate(94;0.0773)	31					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.93C>T	CCDS1555.1																																																																																				0.662	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		7	181	0	0	0	1	0	7	181				
ACLY	47	broad.mit.edu	37	17	40039420	40039420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40039420G>A	ENST00000352035.2	-	20	2350	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	ACLY_ENST00000537919.1_Silent_p.I469I|ACLY_ENST00000353196.1_Silent_p.I730I|ACLY_ENST00000590151.1_Silent_p.I740I|ACLY_ENST00000393896.2_Silent_p.I730I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	740					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCAGCAGACGATGGGCTTAG	0.562																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2218-2220)atC>atT		ATP citrate lyase							94.0	90.0	91.0					17																	40039420		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40039420G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2220C>T	17.37:g.40039420G>A						ACLY_ENST00000393896.2_Silent_p.I730I|ACLY_ENST00000590151.1_Silent_p.I740I|ACLY_ENST00000537919.1_Silent_p.I469I|ACLY_ENST00000353196.1_Silent_p.I730I	p.I740I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			20	2350	-		Breast(137;0.000143)	740					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.2220C>T	CCDS11412.1																																																																																				0.562	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		8	464	0	0	0	1	0	8	464				
MS4A2	2206	broad.mit.edu	37	11	59857875	59857875	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857875A>G	ENST00000278888.3	+	3	355	c.253A>G	c.(253-255)Att>Gtt	p.I85V		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	85					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGTACTTGATATTTCACACAT	0.323																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(253-255)Att>Gtt		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						217.0	208.0	211.0					11																	59857875		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857875A>G	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.253A>G	11.37:g.59857875A>G	ENSP00000278888:p.Ile85Val						p.I85V	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			3	355	+		all_epithelial(135;0.245)	85					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.253A>G	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	A	0.282	-0.985742	0.02180	.	.	ENSG00000149534	ENST00000278888	T	0.02177	4.41	4.68	-7.35	0.01422	.	2.621580	0.01288	N	0.009922	T	0.01387	0.0045	N	0.16656	0.425	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.15870	0.014;0.014	T	0.46205	-0.9208	10	0.16420	T	0.52	2.0808	2.9836	0.05961	0.2451:0.2431:0.3929:0.1188	.	15;85	Q14298;Q01362	.;FCERB_HUMAN	V	85	ENSP00000278888:I85V	ENSP00000278888:I85V	I	+	1	0	MS4A2	59614451	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.683000	0.05179	-1.536000	0.01738	-0.297000	0.09499	ATT		0.323	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			126	566	0	0	0	1	0	126	566				
CTTNBP2	83992	broad.mit.edu	37	7	117400555	117400555	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117400555T>G	ENST00000160373.3	-	10	3197	c.3106A>C	c.(3106-3108)Act>Cct	p.T1036P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTATTGCAAGTCACGTCTTCC	0.453																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3106-3108)Act>Cct		cortactin binding protein 2							170.0	150.0	157.0					7																	117400555		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117400555T>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3106A>C	7.37:g.117400555T>G	ENSP00000160373:p.Thr1036Pro						p.T1036P	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	10	3197	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1036					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3106A>C	CCDS5774.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	10.42|10.42|10.42	1.344691|1.344691|1.344691	0.24426|0.24426|0.24426	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373|ENST00000435233;ENST00000416239	.|T|.	.|0.67171|.	.|-0.25|.	5.72|5.72|5.72	1.89|1.89|1.89	0.25635|0.25635|0.25635	.|.|.	.|0.408889|.	.|0.27151|.	.|N|.	.|0.020687|.	T|T|.	0.46171|0.46171|.	0.1379|0.1379|.	M|M|M	0.79123|0.79123|0.79123	2.44|2.44|2.44	0.09310|0.09310|0.09310	N|N|N	0.999991|0.999991|0.999991	.|P|.	.|0.47962|.	.|0.903|.	.|B|.	.|0.39876|.	.|0.312|.	T|T|.	0.44620|0.44620|.	-0.9316|-0.9316|.	5|10|.	.|0.72032|.	.|D|.	.|0.01|.	-1.2873|-1.2873|-1.2873	2.3636|2.3636|2.3636	0.04313|0.04313|0.04313	0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057	.|.|.	.|1036|.	.|Q8WZ74|.	.|CTTB2_HUMAN|.	A|P|C	523|1036|49;31	.|ENSP00000160373:T1036P|.	.|ENSP00000160373:T1036P|.	D|T|X	-|-|-	2|1|3	0|0|0	CTTNBP2|CTTNBP2|CTTNBP2	117187791|117187791|117187791	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.014000|0.014000|0.014000	0.15608|0.15608|0.15608	0.026000|0.026000|0.026000	0.11368|0.11368|0.11368	0.797000|0.797000|0.797000	0.26999|0.26999|0.26999	0.138000|0.138000|0.138000	0.18790|0.18790|0.18790	-0.417000|-0.417000|-0.417000	0.06048|0.06048|0.06048	GAC|ACT|TGA		0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		104	525	0	0	0	1	0	104	525				
C6	729	broad.mit.edu	37	5	41149447	41149447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149447C>T	ENST00000263413.3	-	17	2783	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_ENST00000337836.5_Missense_Mutation_p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	840	C5b-binding domain.|Factor I module (FIM) 1.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAACTGGCGGCCGTCTTGGCA	0.418																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2518-2520)gGc>gAc		complement component 6							140.0	137.0	138.0					5																	41149447		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149447C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2519G>A	5.37:g.41149447C>T	ENSP00000263413:p.Gly840Asp					C6_ENST00000337836.5_Missense_Mutation_p.G840D	p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			17	2783	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	840			C5b-binding domain.|Complement control factor I module 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2519G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	2.405	-0.336634	0.05278	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60299	0.2;0.2	5.85	5.85	0.93711	.	0.306075	0.37053	N	0.002274	T	0.32041	0.0816	N	0.14661	0.345	0.24034	N	0.996103	B	0.16396	0.017	B	0.12837	0.008	T	0.31943	-0.9925	10	0.07030	T	0.85	-20.1278	5.7292	0.18030	0.0:0.6574:0.1663:0.1763	.	840	P13671	CO6_HUMAN	D	840	ENSP00000338861:G840D;ENSP00000263413:G840D	ENSP00000263413:G840D	G	-	2	0	C6	41185204	0.006000	0.16342	0.839000	0.33178	0.196000	0.23810	1.784000	0.38674	2.768000	0.95171	0.655000	0.94253	GGC		0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			154	791	0	0	0	1	0	154	791				
PHLDB1	23187	broad.mit.edu	37	11	118498785	118498785	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118498785C>T	ENST00000361417.2	+	7	1657	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	PHLDB1_ENST00000356063.5_Silent_p.L416L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	416								p.L416V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCGGGTGCTAACAACCAG	0.637																																						ENST00000361417.2																			1	Substitution - Missense(1)	p.L416V(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1246-1248)Cta>Tta		pleckstrin homology-like domain, family B, member 1							72.0	75.0	74.0					11																	118498785		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118498785C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1246C>T	11.37:g.118498785C>T						PHLDB1_ENST00000356063.5_Silent_p.L416L	p.L416L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1657	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	416					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1246C>T	CCDS8401.1																																																																																				0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		172	720	0	0	0	1	0	172	720				
PFDN1	5201	broad.mit.edu	37	5	139661041	139661041	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139661041T>G	ENST00000261813.4	-	3	325	c.278A>C	c.(277-279)gAa>gCa	p.E93A	CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000514611.1_Intron|PFDN1_ENST00000510217.1_3'UTR|PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	93					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTCTAGTTCTTTAATTTT	0.328																																						ENST00000261813.4																			0				endometrium(2)|large_intestine(3)|prostate(1)	6						c.(277-279)gAa>gCa		prefoldin subunit 1							86.0	79.0	81.0					5																	139661041		2202	4296	6498	SO:0001583	missense	5201				'de novo' posttranslational protein folding|cell cycle	prefoldin complex	sequence-specific DNA binding transcription factor activity|unfolded protein binding	g.chr5:139661041T>G	Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"""prefoldin 1"""			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.278A>C	5.37:g.139661041T>G	ENSP00000261813:p.Glu93Ala					PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A|PFDN1_ENST00000514611.1_Intron	p.E93A	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	325	-			93					B2RD02|Q53F95|Q96EX6	Missense_Mutation	SNP	ENST00000261813.4	37	c.278A>C	CCDS4222.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124391	0.37533	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	T;T	0.45276	0.9;0.9	5.8	5.8	0.92144	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.37897	1.145	0.80722	D	1	B	0.17667	0.023	B	0.21151	0.033	T	0.13072	-1.0523	10	0.08837	T	0.75	-12.5849	14.3845	0.66934	0.0:0.0:0.0:1.0	.	93	O60925	PFD1_HUMAN	A	93	ENSP00000261813:E93A;ENSP00000428707:E93A	ENSP00000261813:E93A	E	-	2	0	PFDN1	139641225	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.285000	0.65633	2.221000	0.72209	0.528000	0.53228	GAA		0.328	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251354.3	NM_002622		36	120	0	0	0	1	0	36	120				
AKT2	208	broad.mit.edu	37	19	40743876	40743876	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40743876C>A	ENST00000392038.2	-	9	1129	c.831G>T	c.(829-831)aaG>aaT	p.K277N	AKT2_ENST00000579047.1_Splice_Site_p.K215N|AKT2_ENST00000424901.1_Splice_Site_p.K277N|AKT2_ENST00000311278.6_Splice_Site_p.K277N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	277	Inhibitor binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGCCACTAACCTTGATGTCGC	0.592			A		"""ovarian, pancreatic """																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.e9+1		v-akt murine thymoma viral oncogene homolog 2							111.0	76.0	88.0					19																	40743876		2203	4300	6503	SO:0001630	splice_region_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40743876C>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.831+1G>T	19.37:g.40743876C>A						AKT2_ENST00000311278.6_Splice_Site_p.K277_splice|AKT2_ENST00000579047.1_Splice_Site_p.K215_splice|AKT2_ENST00000424901.1_Splice_Site_p.K277_splice	p.K277_splice	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		9	1129	-			277			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Splice_Site	SNP	ENST00000392038.2	37	c.831_splice	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981905	0.93044	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	D;D;D	0.91124	-2.79;-2.79;-2.79	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	H	0.95224	3.64	0.80722	D	1	D;D;D	0.69078	0.997;0.983;0.997	D;D;D	0.79784	0.993;0.968;0.993	D	0.97672	1.0167	9	.	.	.	.	17.698	0.88286	0.0:1.0:0.0:0.0	.	215;277;277	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	N	277;178;277;277;97	ENSP00000375892:K277N;ENSP00000399532:K277N;ENSP00000309428:K277N	.	K	-	3	2	AKT2	45435716	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.585000	0.82584	2.778000	0.95560	0.655000	0.94253	AAG		0.592	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	Missense_Mutation	9	100	1	0	4.36969e-10	1	4.6211e-10	9	100				
THBS2	7058	broad.mit.edu	37	6	169632084	169632084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632084G>A	ENST00000366787.3	-	14	2391	c.2142C>T	c.(2140-2142)caC>caT	p.H714H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	714					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTTGATGCAGTGGTAGGTGG	0.726																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2140-2142)caC>caT		thrombospondin 2							59.0	52.0	54.0					6																	169632084		2203	4299	6502	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632084G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2142C>T	6.37:g.169632084G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.H714H	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2391	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	714					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2142C>T	CCDS34574.1																																																																																				0.726	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		6	261	0	0	0	1	0	6	261				
ASB2	51676	broad.mit.edu	37	14	94417571	94417571	+	Silent	SNP	C	C	T	rs199532437		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417571C>T	ENST00000315988.4	-	4	998	c.510G>A	c.(508-510)gcG>gcA	p.A170A	ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Silent_p.A218A	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	170					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCACGGCCTCCGCGTTCTTGC	0.622																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(652-654)gcG>gcA		ankyrin repeat and SOCS box containing 2							64.0	56.0	59.0					14																	94417571		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94417571C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.510G>A	14.37:g.94417571C>T						ASB2_ENST00000315988.4_Silent_p.A170A|ASB2_ENST00000556337.1_Intron	p.A218A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1084	-		all_cancers(154;0.13)	170					B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.654G>A	CCDS9915.1																																																																																				0.622	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			54	244	0	0	0	1	0	54	244				
MUC2	4583	broad.mit.edu	37	11	1086426	1086426	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1086426C>T	ENST00000441003.2	+	23	3162	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	MUC2_ENST00000359061.5_Silent_p.S1045S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1045	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGCCGCTCCTGGGCCGAGA	0.657																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3133-3135)tcC>tcT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						18.0	25.0	23.0					11																	1086426		2094	4192	6286	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1086426C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3135C>T	11.37:g.1086426C>T						MUC2_ENST00000359061.5_Silent_p.S1045S	p.S1045S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	3162	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1045			VWFD 3.		Q14878	Silent	SNP	ENST00000441003.2	37	c.3135C>T																																																																																					0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		20	94	0	0	0	1	0	20	94				
ZNRF4	148066	broad.mit.edu	37	19	5455699	5455699	+	Missense_Mutation	SNP	C	C	T	rs201511283		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5455699C>T	ENST00000222033.4	+	1	274	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	66						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A66V(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACACAGACAGCGAAGCGGGTG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		15669	0.001		0.0	False		,,,				2504	0.0					ENST00000222033.4																			1	Substitution - Missense(1)	p.A66V(1)	large_intestine(1)	NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(196-198)gCg>gTg		zinc and ring finger 4		C	VAL/ALA	0,4120		0,0,2060	42.0	51.0	48.0		197	-4.4	0.0	19		48	1,8357		0,1,4178	no	missense	ZNRF4	NM_181710.3	64	0,1,6238	TT,TC,CC		0.012,0.0,0.0080	possibly-damaging	66/430	5455699	1,12477	2060	4179	6239	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455699C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.197C>T	19.37:g.5455699C>T	ENSP00000222033:p.Ala66Val						p.A66V	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	274	+			66					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.197C>T	CCDS42475.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.569	1.120575	0.20877	0.0	1.2E-4	ENSG00000105428	ENST00000222033	T	0.04706	3.57	3.22	-4.37	0.03633	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	P	0.45396	0.857	B	0.35240	0.198	T	0.46005	-0.9222	9	0.54805	T	0.06	.	10.7534	0.46221	0.3551:0.6449:0.0:0.0	.	66	Q8WWF5	ZNRF4_HUMAN	V	66	ENSP00000222033:A66V	ENSP00000222033:A66V	A	+	2	0	ZNRF4	5406699	0.015000	0.18098	0.001000	0.08648	0.016000	0.09150	-0.968000	0.03817	-0.629000	0.05575	0.313000	0.20887	GCG		0.697	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		95	356	0	0	0	1	0	95	356				
FAM65A	79567	broad.mit.edu	37	16	67578324	67578324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578324G>A	ENST00000379312.3	+	15	2856	c.2735G>A	c.(2734-2736)cGc>cAc	p.R912H	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000540839.3_Missense_Mutation_p.R927H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	912						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R908H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CACTGCAGTCGCCTCCTGCTG	0.627																																						ENST00000540839.3																			1	Substitution - Missense(1)	p.R908H(1)	large_intestine(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2779-2781)cGc>cAc		family with sequence similarity 65, member A							90.0	82.0	85.0					16																	67578324		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67578324G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2735G>A	16.37:g.67578324G>A	ENSP00000368614:p.Arg912His					FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000379312.3_Missense_Mutation_p.R912H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H	p.R927H			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	16	3000	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	912					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.2780G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654243	0.29425	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.76448	-1.02;-1.02;-1.02	5.55	0.947	0.19555	.	0.690542	0.14688	N	0.304307	T	0.53706	0.1813	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.19445	0.015;0.036;0.005	B;B;B	0.04013	0.001;0.001;0.001	T	0.37314	-0.9711	10	0.23891	T	0.37	-0.573	11.6031	0.51015	0.3702:0.0:0.6298:0.0	.	922;928;912	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	H	912;908;928;922	ENSP00000368614:R912H;ENSP00000042381:R908H;ENSP00000400099:R928H	ENSP00000042381:R908H	R	+	2	0	FAM65A	66135825	0.000000	0.05858	0.979000	0.43373	0.997000	0.91878	-0.053000	0.11846	0.321000	0.23259	0.655000	0.94253	CGC		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		129	560	0	0	0	1	0	129	560				
MID2	11043	broad.mit.edu	37	X	107160956	107160956	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107160956C>T	ENST00000262843.6	+	7	1970	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	MID2_ENST00000443968.2_Intron|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	474	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAAGATTGGCCGGGGCGCCAC	0.483													C|||	2	0.000529801	0.0	0.0	3775	,	,		16260	0.002		0.0	False		,,,				2504	0.0					ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1420-1422)gcC>gcT		midline 2							121.0	102.0	108.0					X																	107160956		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107160956C>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1422C>T	X.37:g.107160956C>T						MID2_ENST00000443968.2_Intron|RP6-191P20.4_ENST00000430140.1_RNA	p.A474A	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			7	1970	+			474			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.1422C>T	CCDS14532.2																																																																																				0.483	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		88	317	0	0	0	1	0	88	317				
PRMT6	55170	broad.mit.edu	37	1	107599623	107599623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107599623C>A	ENST00000370078.1	+	1	323	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	PRMT6_ENST00000361318.5_Missense_Mutation_p.L37M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	96	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CACCGGCATTCTGAGCATCTT	0.692																																						ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(109-111)Ctg>Atg		protein arginine methyltransferase 6							30.0	37.0	35.0					1																	107599623		1992	4149	6141	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107599623C>A	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.286C>A	1.37:g.107599623C>A	ENSP00000359095:p.Leu96Met					PRMT6_ENST00000370078.1_Missense_Mutation_p.L96M	p.L37M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	357	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	96					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.109C>A	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363843	0.24684	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.63580	-0.05;-0.05	5.11	4.2	0.49525	.	0.000000	0.64402	D	0.000006	T	0.70736	0.3258	M	0.82630	2.6	0.09310	N	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.65697	-0.6105	10	0.66056	D	0.02	-18.3037	11.3452	0.49556	0.0:0.9125:0.0:0.0875	.	96	Q96LA8	ANM6_HUMAN	M	37;96	ENSP00000355145:L37M;ENSP00000359095:L96M	ENSP00000355145:L37M	L	+	1	2	PRMT6	107401146	0.703000	0.27826	0.025000	0.17156	0.002000	0.02628	1.276000	0.33156	1.377000	0.46286	0.544000	0.68410	CTG		0.692	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		63	201	1	0	3.00063e-23	1	3.40875e-23	63	201				
ATP2B2	491	broad.mit.edu	37	3	10400486	10400486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10400486G>A	ENST00000352432.4	-	13	2094	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	ATP2B2_ENST00000397077.1_Silent_p.A630A|ATP2B2_ENST00000383800.4_Silent_p.A630A|ATP2B2_ENST00000360273.2_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	675					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGTCGCGGTAGGCCACGCAGA	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1888-1890)gcC>gcT		ATPase, Ca++ transporting, plasma membrane 2							63.0	53.0	56.0					3																	10400486		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10400486G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2025C>T	3.37:g.10400486G>A						ATP2B2_ENST00000360273.2_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A|ATP2B2_ENST00000383800.4_Silent_p.A630A|ATP2B2_ENST00000352432.4_Silent_p.A675A	p.A630A			Q01814	AT2B2_HUMAN			13	2465	-			675					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1890C>T	CCDS33701.1																																																																																				0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		62	255	0	0	0	1	0	62	255				
HIP1	3092	broad.mit.edu	37	7	75184851	75184851	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75184851G>T	ENST00000336926.6	-	19	1858	c.1832C>A	c.(1831-1833)tCt>tAt	p.S611Y	HIP1_ENST00000434438.2_Missense_Mutation_p.S611Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	611					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGGCACATAGATTCCTAAAA	0.517			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1831-1833)tCt>tAt		huntingtin interacting protein 1							56.0	51.0	53.0					7																	75184851		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75184851G>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1832C>A	7.37:g.75184851G>T	ENSP00000336747:p.Ser611Tyr					HIP1_ENST00000434438.2_Missense_Mutation_p.S611Y	p.S611Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			19	1858	-			611					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1832C>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221613	0.39300	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15487	2.64;2.42	5.76	5.76	0.90799	.	0.416790	0.23325	N	0.049414	T	0.12220	0.0297	N	0.08118	0	0.18873	N	0.999987	P;P	0.50710	0.74;0.938	B;P	0.46758	0.212;0.526	T	0.13282	-1.0515	10	0.62326	D	0.03	-6.2134	10.9381	0.47257	0.0855:0.0:0.9145:0.0	.	611;611	E7ES17;O00291	.;HIP1_HUMAN	Y	611	ENSP00000336747:S611Y;ENSP00000410300:S611Y	ENSP00000336747:S611Y	S	-	2	0	HIP1	75022787	0.840000	0.29493	0.421000	0.26609	0.059000	0.15707	3.945000	0.56637	2.721000	0.93114	0.655000	0.94253	TCT		0.517	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		15	199	1	0	2.31682e-05	1	2.36778e-05	15	199				
C3AR1	719	broad.mit.edu	37	12	8211461	8211461	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8211461C>A	ENST00000307637.4	-	2	1524	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	441					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTCCTAAAATCTTTCCCCAAG	0.478																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1321-1323)Gat>Tat		complement component 3a receptor 1							92.0	85.0	88.0					12																	8211461		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211461C>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1321G>T	12.37:g.8211461C>A	ENSP00000302079:p.Asp441Tyr						p.D441Y	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1524	-			441					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.1321G>T	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525039	0.85600	.	.	ENSG00000171860	ENST00000307637	T	0.40476	1.03	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.66973	0.2844	M	0.83223	2.63	0.54753	D	0.999982	D	0.89917	1.0	D	0.69307	0.963	T	0.71567	-0.4554	10	0.87932	D	0	.	16.4145	0.83729	0.0:1.0:0.0:0.0	.	441	Q16581	C3AR_HUMAN	Y	441	ENSP00000302079:D441Y	ENSP00000302079:D441Y	D	-	1	0	C3AR1	8102728	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.746000	0.94184	0.655000	0.94253	GAT		0.478	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			62	375	1	0	3.21867e-24	1	3.67736e-24	62	375				
TFEC	22797	broad.mit.edu	37	7	115614303	115614303	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115614303T>C	ENST00000265440.7	-	3	368	c.188A>G	c.(187-189)gAc>gGc	p.D63G	TFEC_ENST00000484212.1_Missense_Mutation_p.D153G|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	63	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCAATAACGTCCTCCATCTA	0.343																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(187-189)gAc>gGc		transcription factor EC							92.0	88.0	90.0					7																	115614303		2203	4298	6501	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115614303T>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.188A>G	7.37:g.115614303T>C	ENSP00000265440:p.Asp63Gly					TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.D153G	p.D63G	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	368	-			63			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.188A>G	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784714	0.49997	.	.	ENSG00000105967	ENST00000265440;ENST00000484212	T;T	0.27890	1.64;1.98	4.58	4.58	0.56647	.	0.287515	0.36740	N	0.002438	T	0.30230	0.0758	L	0.58354	1.805	0.80722	D	1	P;B	0.34662	0.462;0.084	B;B	0.31614	0.133;0.034	T	0.19647	-1.0299	10	0.87932	D	0	-4.0654	12.5214	0.56060	0.0:0.0:0.0:1.0	.	153;63	B7Z757;O14948	.;TFEC_HUMAN	G	63;153	ENSP00000265440:D63G;ENSP00000417432:D153G	ENSP00000265440:D63G	D	-	2	0	TFEC	115401539	0.938000	0.31826	0.999000	0.59377	0.999000	0.98932	4.776000	0.62354	1.705000	0.51264	0.528000	0.53228	GAC		0.343	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		6	298	0	0	0	1	0	6	298				
PPP1R21	129285	broad.mit.edu	37	2	48725768	48725768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48725768C>T	ENST00000294952.8	+	17	1986	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V	PPP1R21_ENST00000449090.2_Missense_Mutation_p.A579V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A610V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	610						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ACAGGTAGTGCCCAGCTGGTT	0.483																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1828-1830)gCc>gTc		protein phosphatase 1, regulatory subunit 21							106.0	98.0	101.0					2																	48725768		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48725768C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1829C>T	2.37:g.48725768C>T	ENSP00000294952:p.Ala610Val					PPP1R21_ENST00000449090.2_Missense_Mutation_p.A579V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A610V	p.A610V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			17	1986	+			610					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1829C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012605	0.19277	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.87	3.0	0.34707	.	0.258920	0.43579	D	0.000546	T	0.31482	0.0798	N	0.22421	0.69	0.22342	N	0.999182	P;B;B	0.35242	0.492;0.211;0.437	B;B;B	0.34931	0.192;0.192;0.121	T	0.09487	-1.0672	9	0.27082	T	0.32	-6.5177	18.6217	0.91323	0.0:0.3942:0.6057:0.0	.	579;610;610	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	V	610;610;579	.	ENSP00000281394:A610V	A	+	2	0	KLRAQ1	48579272	1.000000	0.71417	0.982000	0.44146	0.226000	0.24999	1.897000	0.39799	0.805000	0.34159	-0.133000	0.14855	GCC		0.483	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		45	213	0	0	0	1	0	45	213				
PIK3R5	23533	broad.mit.edu	37	17	8791855	8791855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8791855G>A	ENST00000447110.1	-	10	1373	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	417					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTGCCCAGGCCTGCGGTGG	0.637																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1249-1251)Cct>Tct		phosphoinositide-3-kinase, regulatory subunit 5							17.0	19.0	18.0					17																	8791855		2201	4299	6500	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791855G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1249C>T	17.37:g.8791855G>A	ENSP00000392812:p.Pro417Ser					PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S	p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1373	-			417					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1249C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583346	0.28268	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76186	-1.0	5.51	-0.659	0.11424	.	0.537442	0.21129	N	0.079692	T	0.47655	0.1457	N	0.12182	0.205	0.24214	N	0.995461	B	0.02656	0.0	B	0.08055	0.003	T	0.24225	-1.0166	10	0.17369	T	0.5	-5.3769	6.06	0.19832	0.3788:0.0:0.5066:0.1146	.	417	Q8WYR1	PI3R5_HUMAN	S	417	ENSP00000392812:P417S	ENSP00000269300:P417S	P	-	1	0	PIK3R5	8732580	0.839000	0.29477	0.675000	0.29917	0.886000	0.51366	1.691000	0.37721	-0.061000	0.13110	-0.188000	0.12872	CCT		0.637	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		23	90	0	0	0	1	0	23	90				
TLR3	7098	broad.mit.edu	37	4	186997978	186997978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186997978G>A	ENST00000296795.3	+	2	309	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	69					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTACCAGCCGCCAACTTCAC	0.443																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(205-207)Gcc>Acc		toll-like receptor 3							129.0	126.0	127.0					4																	186997978		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997978G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.205G>A	4.37:g.186997978G>A	ENSP00000296795:p.Ala69Thr						p.A69T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	309	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	69					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.205G>A	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509490	0.27036	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.79554	0.42;-1.28	5.47	3.74	0.42951	.	0.523286	0.21012	N	0.081664	T	0.64136	0.2571	N	0.13098	0.295	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.53229	-0.8468	10	0.16420	T	0.52	.	11.372	0.49704	0.0664:0.0:0.8068:0.1268	.	69	O15455	TLR3_HUMAN	T	69	ENSP00000296795:A69T;ENSP00000423386:A69T	ENSP00000296795:A69T	A	+	1	0	TLR3	187234972	0.553000	0.26513	0.993000	0.49108	0.020000	0.10135	3.182000	0.50910	0.776000	0.33473	-0.188000	0.12872	GCC		0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			89	332	0	0	0	1	0	89	332				
SLC26A5	375611	broad.mit.edu	37	7	103033451	103033451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103033451G>T	ENST00000306312.3	-	10	1295	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	345					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.A345V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATGGCTATGGCAATGGCATC	0.478																																						ENST00000306312.3																			1	Substitution - Missense(1)	p.A345V(1)	large_intestine(1)	endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(1033-1035)gCc>gAc		solute carrier family 26 (anion exchanger), member 5							223.0	174.0	191.0					7																	103033451		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103033451G>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1034C>A	7.37:g.103033451G>T	ENSP00000304783:p.Ala345Asp					SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Intron	p.A345D	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			10	1295	-			345					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1034C>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230698	0.95207	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.74	5.74	0.90152	Sulphate transporter (1);	0.048654	0.85682	D	0.000000	D	0.97473	0.9173	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.995;0.979;0.992	D	0.97869	1.0285	10	0.87932	D	0	.	19.514	0.95155	0.0:0.0:1.0:0.0	.	345;345;345;345	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	D	345;345;345;345;345;308;345;345	ENSP00000342396:A345D;ENSP00000377336:A345D;ENSP00000304783:A345D;ENSP00000377331:A345D;ENSP00000389733:A345D;ENSP00000377330:A308D;ENSP00000377328:A345D;ENSP00000377324:A345D	ENSP00000304783:A345D	A	-	2	0	SLC26A5	102820687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.707000	0.92482	0.655000	0.94253	GCC		0.478	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		72	295	1	0	6.00099e-30	1	7.02477e-30	72	295				
MAL2	114569	broad.mit.edu	37	8	120233931	120233931	+	Silent	SNP	G	G	A	rs377088720		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120233931G>A	ENST00000276681.6	+	3	339	c.237G>A	c.(235-237)tcG>tcA	p.S79S	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	79	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTTTCTTTTCGCTCCTCTTTC	0.458																																						ENST00000276681.6																			0											c.(235-237)tcG>tcA		mal, T-cell differentiation protein 2 (gene/pseudogene)		G		0,3968		0,0,1984	186.0	185.0	186.0		238	1.3	0.7	8		186	2,8332		0,2,4165	no	coding-synonymous	MAL2	NM_052886.2		0,2,6149	AA,AG,GG		0.024,0.0,0.0163		79/177	120233931	2,12300	1984	4167	6151	SO:0001819	synonymous_variant	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120233931G>A	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.237G>A	8.37:g.120233931G>A						MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	p.S79S	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		3	339	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		79			MARVEL.		B2R520|Q6ZMD9	Silent	SNP	ENST00000276681.6	37	c.237G>A																																																																																					0.458	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		126	718	0	0	0	1	0	126	718				
SYNE1	23345	broad.mit.edu	37	6	152777048	152777048	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152777048C>A	ENST00000367255.5	-	23	3301	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	900					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTGCAATCTGTCTTTGTA	0.418										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2698-2700)caG>caT		spectrin repeat containing, nuclear envelope 1							160.0	138.0	145.0					6																	152777048		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152777048C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2700G>T	6.37:g.152777048C>A	ENSP00000356224:p.Gln900His	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H	p.Q900H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	23	3301	-		Ovarian(120;0.0955)	900					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2700G>T	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581997|3.581997	0.65992|0.65992	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000341594|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T|T;T;T;T;T;T;T;T	0.48836|0.35789	0.8|1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.49|5.49	3.68|3.68	0.42216|0.42216	.|.	.|0.110333	.|0.39020	.|N	.|0.001484	T|T	0.21103|0.21103	0.0508|0.0508	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;B;P;P;P;B;B	.|0.44195	.|0.472;0.002;0.828;0.654;0.771;0.002;0.006	.|B;B;P;B;P;B;B	.|0.47705	.|0.173;0.002;0.555;0.431;0.532;0.002;0.01	T|T	0.02966|0.02966	-1.1088|-1.1088	7|10	0.59425|0.48119	D|T	0.04|0.1	.|.	7.4634|7.4634	0.27308|0.27308	0.0:0.6963:0.1475:0.1562|0.0:0.6963:0.1475:0.1562	.|.	.|883;900;467;890;900;900;907	.|B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.;.;.;.	Y|H	952|900;907;900;907;900;890;900;467	ENSP00000341887:D952Y|ENSP00000356224:Q900H;ENSP00000396024:Q907H;ENSP00000265368:Q900H;ENSP00000390975:Q907H;ENSP00000356222:Q900H;ENSP00000356217:Q890H;ENSP00000414510:Q900H;ENSP00000438508:Q467H	ENSP00000341887:D952Y|ENSP00000265368:Q900H	D|Q	-|-	1|3	0|2	SYNE1|SYNE1	152818741|152818741	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.927000|0.927000	0.56198|0.56198	0.487000|0.487000	0.22356|0.22356	1.297000|1.297000	0.44761|0.44761	0.655000|0.655000	0.94253|0.94253	GAT|CAG		0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		41	370	1	0	1.07121e-22	1	1.21384e-22	41	370				
CFHR1	3078	broad.mit.edu	37	1	196800998	196800998	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196800998C>A	ENST00000320493.5	+	6	950	c.862C>A	c.(862-864)Ctt>Att	p.L288I	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.L229I	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	288	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAAACAGAAGCTTTATTTGAG	0.368																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(862-864)Ctt>Att		complement factor H-related 1							125.0	146.0	139.0					1																	196800998		1891	4135	6026	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196800998C>A	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.862C>A	1.37:g.196800998C>A	ENSP00000314299:p.Leu288Ile					CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.L229I	p.L288I	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			6	950	+			288			Sushi 5.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.862C>A	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.387448	0.01194	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.64618	-0.11;-0.11	2.77	-5.55	0.02536	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33904	0.0879	L	0.33668	1.02	0.09310	N	1	P;B	0.34892	0.474;0.234	B;B	0.28232	0.073;0.087	T	0.27157	-1.0082	9	0.10377	T	0.69	.	0.6071	0.00755	0.3528:0.1825:0.1121:0.3526	.	288;1189	Q03591;A8K5T0	FHR1_HUMAN;.	I	229;288	ENSP00000356394:L229I;ENSP00000314299:L288I	ENSP00000314299:L288I	L	+	1	0	CFHR1	195067621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.446000	0.00232	-3.448000	0.00161	-1.639000	0.00775	CTT		0.368	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		109	200	1	0	5.97022e-63	1	7.52953e-63	109	200				
LIFR	3977	broad.mit.edu	37	5	38496596	38496596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38496596C>A	ENST00000263409.4	-	13	1935	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	591	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGCTTTGTGCTGAGGATCAG	0.408			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1771-1773)caG>caT		leukemia inhibitory factor receptor alpha							224.0	192.0	203.0					5																	38496596		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38496596C>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1773G>T	5.37:g.38496596C>A	ENSP00000263409:p.Gln591His					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H	p.Q591H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			13	1935	-	all_lung(31;0.00021)		591			Fibronectin type-III 4.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1773G>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006685	0.19199	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54279	0.58;0.58	5.73	-8.16	0.01061	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.758030	0.13202	N	0.405909	T	0.23926	0.0579	N	0.12569	0.235	0.21416	N	0.999698	B	0.12630	0.006	B	0.09377	0.004	T	0.14783	-1.0460	10	0.28530	T	0.3	-18.9492	8.1536	0.31156	0.0973:0.5493:0.0992:0.2542	.	591	P42702	LIFR_HUMAN	H	591	ENSP00000263409:Q591H;ENSP00000398368:Q591H	ENSP00000263409:Q591H	Q	-	3	2	LIFR	38532353	0.010000	0.17322	0.953000	0.39169	0.524000	0.34500	-1.826000	0.01705	-0.804000	0.04410	-1.008000	0.02478	CAG		0.408	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		101	377	1	0	3.78979e-47	1	4.66216e-47	101	377				
SREBF2	6721	broad.mit.edu	37	22	42266957	42266957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42266957G>A	ENST00000361204.4	+	4	951	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	262	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGACAGATGGCAGCCCTGTT	0.537																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(784-786)gGc>gAc		sterol regulatory element binding transcription factor 2							169.0	157.0	161.0					22																	42266957		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42266957G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.785G>A	22.37:g.42266957G>A	ENSP00000354476:p.Gly262Asp						p.G262D	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			4	951	+			262			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.785G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765744	0.90020	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55760	0.5	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57154	-0.7860	10	0.17369	T	0.5	-32.2682	19.365	0.94458	0.0:0.0:1.0:0.0	.	262	Q12772	SRBP2_HUMAN	D	262	ENSP00000354476:G262D	ENSP00000354476:G262D	G	+	2	0	SREBF2	40596903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.525000	0.73795	2.577000	0.86979	0.455000	0.32223	GGC		0.537	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		177	719	0	0	0	1	0	177	719				
DMXL2	23312	broad.mit.edu	37	15	51750948	51750948	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51750948G>T	ENST00000251076.5	-	34	8255	c.7968C>A	c.(7966-7968)atC>atA	p.I2656I	RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Silent_p.I2657I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2656						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCCTTATGGATGACTTTCG	0.373																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(7966-7968)atC>atA		Dmx-like 2							118.0	113.0	115.0					15																	51750948		2196	4293	6489	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51750948G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7968C>A	15.37:g.51750948G>T						RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.I2657I|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.2_ENST00000559977.1_RNA	p.I2656I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	34	8255	-			2656					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.7968C>A	CCDS10141.1																																																																																				0.373	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		66	341	1	0	2.69673e-31	1	3.17273e-31	66	341				
ADCY3	109	broad.mit.edu	37	2	25095498	25095498	+	Missense_Mutation	SNP	G	G	T	rs114534287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25095498G>T	ENST00000260600.5	-	2	1617	c.766C>A	c.(766-768)Ctg>Atg	p.L256M		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	256					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGGGCCTCCAGGAAGGCCTTG	0.632																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(766-768)Ctg>Atg		adenylate cyclase 3							83.0	83.0	83.0					2																	25095498		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25095498G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.766C>A	2.37:g.25095498G>T	ENSP00000260600:p.Leu256Met						p.L256M	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			2	1617	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		256					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.766C>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852307	0.71719	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000427849;ENST00000433852	D;D;D	0.83419	-1.72;-1.61;-1.51	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91272	0.5045	10	0.66056	D	0.02	.	17.3652	0.87362	0.0:0.0:1.0:0.0	.	256;256	B7ZLX9;O60266	.;ADCY3_HUMAN	M	256;231;22;34	ENSP00000260600:L256M;ENSP00000399275:L22M;ENSP00000401455:L34M	ENSP00000260600:L256M	L	-	1	2	ADCY3	24949002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.323000	0.59221	2.430000	0.82344	0.591000	0.81541	CTG		0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			179	757	1	0	5.09819e-84	1	6.53081e-84	179	757				
RAB33A	9363	broad.mit.edu	37	X	129318474	129318474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129318474G>T	ENST00000257017.4	+	2	888	c.474G>T	c.(472-474)caG>caT	p.Q158H		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	158					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAGGGAACAGATCCAGGTGC	0.522																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(472-474)caG>caT		RAB33A, member RAS oncogene family							129.0	96.0	107.0					X																	129318474		2203	4300	6503	SO:0001583	missense	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318474G>T	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.474G>T	X.37:g.129318474G>T	ENSP00000257017:p.Gln158His						p.Q158H	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	888	+			158					Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.474G>T	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222487	0.58668	.	.	ENSG00000134594	ENST00000257017	T	0.78126	-1.15	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.170222	0.52532	D	0.000071	T	0.77837	0.4190	L	0.39245	1.2	0.45541	D	0.998494	P	0.52170	0.951	P	0.53450	0.726	T	0.80153	-0.1501	10	0.87932	D	0	-11.242	11.1761	0.48601	0.0869:0.0:0.9131:0.0	.	158	Q14088	RB33A_HUMAN	H	158	ENSP00000257017:Q158H	ENSP00000257017:Q158H	Q	+	3	2	RAB33A	129146155	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.430000	0.34914	2.076000	0.62316	0.436000	0.28706	CAG		0.522	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		62	269	1	0	8.81991e-31	1	1.03612e-30	62	269				
CDC14B	8555	broad.mit.edu	37	9	99266070	99266070	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99266070G>A	ENST00000375241.1	-	14	1913	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375240.3_Splice_Site_p.L449F|CDC14B_ENST00000375242.3_Splice_Site_p.L451F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	488					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GAAATGGAGAGACTACAGGGG	0.398																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.e14-1		cell division cycle 14B							75.0	73.0	74.0					9																	99266070		2203	4300	6503	SO:0001630	splice_region_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99266070G>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1461-1C>T	9.37:g.99266070G>A						CDC14B_ENST00000375240.3_Splice_Site_p.L449_splice|CDC14B_ENST00000375242.3_Splice_Site_p.L451_splice|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_3'UTR	p.L488_splice	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			14	1913	-		Acute lymphoblastic leukemia(62;0.0559)	488					A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Splice_Site	SNP	ENST00000375241.1	37	c.1460_splice	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089961	0.08632	.	.	ENSG00000081377	ENST00000375241;ENST00000375240;ENST00000375242	D;D;D	0.91996	-2.94;-2.95;-2.93	4.88	4.88	0.63580	.	0.552057	0.17597	N	0.168548	D	0.85733	0.5765	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28998	0.23;0.044;0.008	B;B;B	0.31390	0.129;0.023;0.002	T	0.81185	-0.1048	10	0.10111	T	0.7	0.3137	15.3465	0.74343	0.0:0.0:1.0:0.0	.	449;488;451	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	F	488;449;451	ENSP00000364389:L488F;ENSP00000364388:L449F;ENSP00000364390:L451F	ENSP00000364388:L449F	L	-	1	0	CDC14B	98305891	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.977000	0.70492	2.537000	0.85549	0.557000	0.71058	CTC		0.398	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	Missense_Mutation	69	280	0	0	0	1	0	69	280				
ROBO1	6091	broad.mit.edu	37	3	78711157	78711157	+	Missense_Mutation	SNP	C	C	T	rs199577218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78711157C>T	ENST00000464233.1	-	15	2187	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	ROBO1_ENST00000436010.2_Missense_Mutation_p.E653K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	692	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTGCACTTCGATGGAAGAG	0.463																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1957-1959)Gaa>Aaa		roundabout, axon guidance receptor, homolog 1 (Drosophila)		C	LYS/GLU,LYS/GLU,LYS/GLU	0,3862		0,0,1931	71.0	78.0	76.0		1966,2074,1966	5.4	1.0	3		76	3,8277		0,3,4137	yes	missense,missense,missense	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	56,56,56	0,3,6068	TT,TC,CC		0.0362,0.0,0.0247	benign,benign,benign	656/1552,692/1652,656/1607	78711157	3,12139	1931	4140	6071	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78711157C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2074G>A	3.37:g.78711157C>T	ENSP00000420321:p.Glu692Lys					ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000464233.1_Missense_Mutation_p.E692K	p.E653K			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	13	2954	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	692					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.1957G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417834	0.42918	0.0	3.62E-4	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.136555	0.64402	D	0.000003	T	0.41880	0.1178	N	0.19112	0.55	0.40617	D	0.98172	B;B;B;P;B;B	0.45212	0.221;0.066;0.422;0.853;0.066;0.053	B;B;B;B;B;B	0.41271	0.039;0.032;0.19;0.352;0.032;0.031	T	0.30031	-0.9992	9	.	.	.	.	19.2213	0.93797	0.0:1.0:0.0:0.0	.	656;656;692;656;656;653	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	K	653;656;692;656;656;696	ENSP00000406043:E653K;ENSP00000420321:E692K;ENSP00000420637:E656K;ENSP00000417992:E656K	.	E	-	1	0	ROBO1	78793847	0.983000	0.35010	0.983000	0.44433	0.985000	0.73830	2.454000	0.44979	2.516000	0.84829	0.555000	0.69702	GAA		0.463	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		14	52	0	0	0	1	0	14	52				
CALD1	800	broad.mit.edu	37	7	134618572	134618572	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134618572G>T	ENST00000361675.2	+	5	1281	c.1052G>T	c.(1051-1053)aGg>aTg	p.R351M	CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	351	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gaagagaaaagggcagcagag	0.532																																						ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1051-1053)aGg>aTg		caldesmon 1							111.0	131.0	124.0					7																	134618572		2197	4295	6492	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618572G>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1052G>T	7.37:g.134618572G>T	ENSP00000354826:p.Arg351Met					CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361901.2_Intron	p.R351M			Q05682	CALD1_HUMAN			5	1281	+			351			3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1052G>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259906	0.10239	.	.	ENSG00000122786	ENST00000361675	T	0.42513	0.97	3.1	1.14	0.20703	.	0.667275	0.11937	N	0.515172	T	0.44871	0.1314	L	0.40543	1.245	0.31670	N	0.644534	D	0.60575	0.988	P	0.58660	0.843	T	0.49103	-0.8974	9	.	.	.	.	6.6147	0.22771	0.3535:0.0:0.6465:0.0	.	351	Q05682	CALD1_HUMAN	M	351	ENSP00000354826:R351M	.	R	+	2	0	CALD1	134269112	0.000000	0.05858	0.004000	0.12327	0.312000	0.27988	-0.082000	0.11304	0.259000	0.21709	0.462000	0.41574	AGG		0.532	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		10	54	1	0	1.76689e-08	1	1.84553e-08	10	54				
UBE2U	148581	broad.mit.edu	37	1	64676474	64676474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64676474G>T	ENST00000371076.3	+	4	535	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	97					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						ACAACCCTGAGAAGTGGAATA	0.308																																						ENST00000371077.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(289-291)gaG>gaT		ubiquitin-conjugating enzyme E2U (putative)							80.0	76.0	78.0					1																	64676474		2203	4300	6503	SO:0001583	missense	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64676474G>T	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.291G>T	1.37:g.64676474G>T	ENSP00000360116:p.Glu97Asp					UBE2U_ENST00000371076.3_Missense_Mutation_p.E97D	p.E97D			Q5VVX9	UBE2U_HUMAN			4	715	+			97					Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	c.291G>T	CCDS627.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.473912	0.01044	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.47528	0.84;0.84	5.5	-11.0	0.00169	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	4.517410	0.00166	N	0.000008	T	0.06280	0.0162	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13442	-1.0509	10	0.18710	T	0.47	.	0.9198	0.01312	0.3285:0.1971:0.3413:0.1331	.	97	Q5VVX9	UBE2U_HUMAN	D	97	ENSP00000360117:E97D;ENSP00000360116:E97D	ENSP00000360116:E97D	E	+	3	2	UBE2U	64449062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.616000	0.00881	-2.767000	0.00367	-1.083000	0.02208	GAG		0.308	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489		28	145	1	0	2.80507e-11	1	2.99019e-11	28	145				
PLVAP	83483	broad.mit.edu	37	19	17487909	17487909	+	Silent	SNP	G	G	A	rs369742034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17487909G>A	ENST00000252590.4	-	1	250	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	63					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGGCGCTCGGTGGCCTGCA	0.597																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(187-189)acC>acT		plasmalemma vesicle associated protein		G		0,4406		0,0,2203	92.0	77.0	82.0		189	-4.9	0.9	19		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLVAP	NM_031310.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		63/443	17487909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487909G>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.189C>T	19.37:g.17487909G>A							p.T63T	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	250	-			63					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.189C>T	CCDS32952.1																																																																																				0.597	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		56	208	0	0	0	1	0	56	208				
OR4N4	283694	broad.mit.edu	37	15	22382753	22382753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22382753A>G	ENST00000328795.4	+	1	372	c.281A>G	c.(280-282)tAc>tGc	p.Y94C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTAATCTCCTACAGAGGCTGC	0.502																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(280-282)tAc>tGc		olfactory receptor, family 4, subfamily N, member 4							46.0	47.0	47.0					15																	22382753		2188	4244	6432	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382753A>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.281A>G	15.37:g.22382753A>G	ENSP00000332500:p.Tyr94Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.Y94C	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	372	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	94					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.281A>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.881	0.951543	0.18431	.	.	ENSG00000183706	ENST00000328795	T	0.00330	8.08	3.2	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.158240	0.29980	N	0.010703	T	0.00724	0.0024	M	0.89095	3.005	0.20196	N	0.999925	D	0.89917	1.0	D	0.70935	0.971	T	0.40627	-0.9553	10	0.87932	D	0	-7.8503	5.8534	0.18707	0.5674:0.0:0.0:0.4326	.	94	Q8N0Y3	OR4N4_HUMAN	C	94	ENSP00000332500:Y94C	ENSP00000332500:Y94C	Y	+	2	0	OR4N4	19884117	0.013000	0.17824	0.975000	0.42487	0.376000	0.30014	0.210000	0.17455	0.402000	0.25451	0.155000	0.16302	TAC		0.502	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			69	394	0	0	0	1	0	69	394				
CCT5	22948	broad.mit.edu	37	5	10250488	10250488	+	Silent	SNP	T	T	C	rs111848991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10250488T>C	ENST00000280326.4	+	1	456	c.36T>C	c.(34-36)taT>taC	p.Y12Y	CCT5_ENST00000506600.1_5'Flank|FAM173B_ENST00000511437.1_5'Flank|FAM173B_ENST00000280330.8_5'Flank|CCT5_ENST00000515390.1_Silent_p.Y12Y|CCT5_ENST00000515676.1_5'Flank|CCT5_ENST00000503026.1_Intron|FAM173B_ENST00000510047.1_5'Flank|FAM173B_ENST00000510052.1_5'Flank|CTD-2256P15.1_ENST00000509915.1_RNA	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	12					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCGATGAATATGGGCGCCCTT	0.592																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(34-36)taT>taC		chaperonin containing TCP1, subunit 5 (epsilon)		T		1,4405	2.1+/-5.4	0,1,2202	81.0	63.0	69.0		36	5.4	1.0	5	dbSNP_132	69	0,8600		0,0,4300	no	coding-synonymous	CCT5	NM_012073.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		12/542	10250488	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10250488T>C	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.36T>C	5.37:g.10250488T>C						CCT5_ENST00000515390.1_Silent_p.Y12Y|CCT5_ENST00000503026.1_Intron	p.Y12Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			1	456	+			12					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.36T>C	CCDS3877.1																																																																																				0.592	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			32	206	0	0	0	1	0	32	206				
SLC35F5	80255	broad.mit.edu	37	2	114476770	114476770	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114476770C>A	ENST00000245680.2	-	14	1870	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	SLC35F5_ENST00000470204.2_5'UTR|MIR4782_ENST00000577987.1_RNA	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	486					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGCAAATATTCTTCTGATTCC	0.313																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(1456-1458)aGa>aTa		solute carrier family 35, member F5							75.0	76.0	76.0					2																	114476770		2202	4299	6501	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114476770C>A	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1457G>T	2.37:g.114476770C>A	ENSP00000245680:p.Arg486Ile					SLC35F5_ENST00000470204.2_5'UTR	p.R486I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			14	1870	-			486					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.1457G>T	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001974|4.001974	0.74932|0.74932	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000420066|ENST00000245680;ENST00000409106	.|T;T	.|0.47177	.|0.85;0.85	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.56761	.|0.2007	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.75484	.|0.986	.|T	.|0.58493	.|-0.7627	.|10	.|0.46703	.|T	.|0.11	-16.8411|-16.8411	19.592|19.592	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|486	.|Q8WV83	.|S35F5_HUMAN	X|I	18|486;480	.|ENSP00000245680:R486I;ENSP00000386754:R480I	.|ENSP00000245680:R486I	E|R	-|-	1|2	0|0	SLC35F5|SLC35F5	114193240|114193240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.601000|7.601000	0.82783|0.82783	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.313	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		37	254	1	0	1.96642e-18	1	2.182e-18	37	254				
LPHN1	22859	broad.mit.edu	37	19	14267880	14267880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14267880C>T	ENST00000340736.6	-	16	3135	c.2838G>A	c.(2836-2838)gtG>gtA	p.V946V	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	946					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAGAGGTGCACGCCCTCCA	0.612																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2836-2838)gtG>gtA		latrophilin 1							52.0	51.0	51.0					19																	14267880		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267880C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2838G>A	19.37:g.14267880C>T						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000588387.1_RNA	p.V946V	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			16	3135	-			946					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.2838G>A	CCDS32928.1																																																																																				0.612	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		44	181	0	0	0	1	0	44	181				
PITPNM3	83394	broad.mit.edu	37	17	6376098	6376098	+	Silent	SNP	G	G	A	rs148138690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6376098G>A	ENST00000262483.8	-	11	1395	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	PITPNM3_ENST00000421306.3_Silent_p.C400C|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	436	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGGGTCTGCGCAATGGAAGA	0.632																																						ENST00000262483.8																			0											c.(1306-1308)tgC>tgT				G	,	1,4405	2.1+/-5.4	0,1,2202	61.0	60.0	60.0		1200,1308	-10.2	0.7	17	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PITPNM3	NM_001165966.1,NM_031220.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	400/939,436/975	6376098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6376098G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1308C>T	17.37:g.6376098G>A						ACKR6_ENST00000421306.3_Silent_p.C400C|ACKR6_ENST00000576664.1_5'UTR	p.C436C	NM_031220.3	NP_112497.2					11	1395	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.1308C>T	CCDS11076.1																																																																																				0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		49	185	0	0	0	1	0	49	185				
PRDM10	56980	broad.mit.edu	37	11	129804999	129804999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129804999C>T	ENST00000360871.3	-	9	1385	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N	PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N|PRDM10_ENST00000358825.5_Missense_Mutation_p.S385N	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TACATACCTGCTAAACACATC	0.418																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1153-1155)aGc>aAc		PR domain containing 10							171.0	154.0	160.0					11																	129804999		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129804999C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1154G>A	11.37:g.129804999C>T	ENSP00000354118:p.Ser385Asn					PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000360871.3_Missense_Mutation_p.S385N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N	p.S385N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	9	1385	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	385					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1154G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	c	14.87	2.665007	0.47572	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10382	2.9;2.9;2.9;2.88;2.95;2.88;2.98	5.11	4.17	0.49024	.	0.170685	0.52532	D	0.000073	T	0.12178	0.0296	L	0.27053	0.805	0.40702	D	0.982499	B;B;P;B;B;P;P	0.46784	0.023;0.152;0.884;0.201;0.039;0.73;0.782	B;B;P;B;B;B;B	0.46076	0.012;0.036;0.503;0.024;0.027;0.37;0.24	T	0.04413	-1.0953	10	0.66056	D	0.02	.	15.1785	0.72934	0.0:0.8532:0.1468:0.0	.	299;385;385;385;299;299;299	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	N	385;299;385;299;359;299;102	ENSP00000351686:S385N;ENSP00000302669:S299N;ENSP00000354118:S385N;ENSP00000398431:S299N;ENSP00000431262:S359N;ENSP00000432237:S299N;ENSP00000435940:S102N	ENSP00000302669:S299N	S	-	2	0	PRDM10	129310209	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.494000	0.45329	1.127000	0.42034	0.486000	0.48141	AGC		0.418	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		107	521	0	0	0	1	0	107	521				
PLXNB1	5364	broad.mit.edu	37	3	48463136	48463136	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48463136G>T	ENST00000358536.4	-	7	1869	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	534					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTTGCAGACAGCCCAGC	0.632																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1600-1602)Ctg>Atg		plexin B1							44.0	43.0	43.0					3																	48463136		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48463136G>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1600C>A	3.37:g.48463136G>T	ENSP00000351338:p.Leu534Met					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M	p.L534M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	7	1869	-			534					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.1600C>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826166	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03524	3.9;3.93;3.9;3.93	5.62	2.84	0.33178	.	0.000000	0.64402	D	0.000002	T	0.12433	0.0302	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.00909	-1.1518	10	0.46703	T	0.11	.	10.3248	0.43787	0.2161:0.0:0.7839:0.0	.	534;534	O43157;O43157-2	PLXB1_HUMAN;.	M	534	ENSP00000296440:L534M;ENSP00000351242:L534M;ENSP00000351338:L534M;ENSP00000414199:L534M	ENSP00000296440:L534M	L	-	1	2	PLXNB1	48438140	1.000000	0.71417	0.694000	0.30210	0.174000	0.22865	2.154000	0.42291	0.738000	0.32606	0.655000	0.94253	CTG		0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		54	254	1	0	1.59911e-31	1	1.88313e-31	54	254				
SENP7	57337	broad.mit.edu	37	3	101047522	101047522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047522C>T	ENST00000394095.2	-	21	2816	c.2763G>A	c.(2761-2763)tcG>tcA	p.S921S	SENP7_ENST00000394091.1_Silent_p.S757S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000394085.3_Silent_p.S109S|SENP7_ENST00000348610.3_Silent_p.S888S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	921	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGACATATTCGACTCGGTAC	0.274																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2761-2763)tcG>tcA		SUMO1/sentrin specific peptidase 7							69.0	69.0	69.0					3																	101047522		2203	4293	6496	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101047522C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2763G>A	3.37:g.101047522C>T						SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000394085.3_Silent_p.S109S|SENP7_ENST00000348610.3_Silent_p.S888S|SENP7_ENST00000394091.1_Silent_p.S757S	p.S921S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			21	2816	-			921			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.2763G>A	CCDS2941.2																																																																																				0.274	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		27	101	0	0	0	1	0	27	101				
MYH3	4621	broad.mit.edu	37	17	10545853	10545853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10545853C>A	ENST00000583535.1	-	16	1856	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I	MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	590	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCTGAGACACTGTAGTCCAC	0.552																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1768-1770)aGt>aTt		myosin, heavy chain 3, skeletal muscle, embryonic							165.0	158.0	161.0					17																	10545853		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10545853C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1769G>T	17.37:g.10545853C>A	ENSP00000464317:p.Ser590Ile					MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	p.S590I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			16	1856	-			590			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1769G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668877	0.47677	.	.	ENSG00000109063	ENST00000226209	T	0.73789	-0.78	4.71	3.74	0.42951	Myosin head, motor domain (2);	.	.	.	.	T	0.71728	0.3374	M	0.79011	2.435	0.40627	D	0.981821	B	0.30870	0.298	B	0.32583	0.148	T	0.73754	-0.3883	9	0.87932	D	0	.	5.7549	0.18168	0.0:0.6681:0.0:0.3319	.	590	P11055	MYH3_HUMAN	I	590	ENSP00000226209:S590I	ENSP00000226209:S590I	S	-	2	0	MYH3	10486578	0.998000	0.40836	0.994000	0.49952	0.946000	0.59487	3.265000	0.51561	1.340000	0.45581	0.650000	0.86243	AGT		0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		129	591	1	0	1.3892e-51	1	1.72483e-51	129	591				
AHNAK	79026	broad.mit.edu	37	11	62299103	62299103	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299103A>G	ENST00000378024.4	-	5	3060	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	929					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGGCCCTTCAGCTTTCCTTC	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2785-2787)cTg>cCg		AHNAK nucleoprotein							132.0	144.0	140.0					11																	62299103		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299103A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2786T>C	11.37:g.62299103A>G	ENSP00000367263:p.Leu929Pro					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L929P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3060	-		Melanoma(852;0.155)	929					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2786T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	15.82	2.945953	0.53079	.	.	ENSG00000124942	ENST00000378024	T	0.01034	5.42	4.78	4.78	0.61160	.	0.427685	0.20173	N	0.097700	T	0.07052	0.0179	M	0.89601	3.045	0.32021	N	0.600752	D	0.89917	1.0	D	0.91635	0.999	T	0.07385	-1.0775	10	0.33940	T	0.23	-6.898	14.2733	0.66164	1.0:0.0:0.0:0.0	.	929	Q09666	AHNK_HUMAN	P	929	ENSP00000367263:L929P	ENSP00000367263:L929P	L	-	2	0	AHNAK	62055679	0.042000	0.20092	0.955000	0.39395	0.913000	0.54294	3.328000	0.52052	1.910000	0.55303	0.374000	0.22700	CTG		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		181	982	0	0	0	1	0	181	982				
ZFAT	57623	broad.mit.edu	37	8	135614146	135614146	+	Missense_Mutation	SNP	C	C	T	rs201380546		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614146C>T	ENST00000377838.3	-	6	1990	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	ZFAT_ENST00000520727.1_Missense_Mutation_p.A594T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	606					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A606T(1)|p.A594T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAGCCTCTGCGGAGGAGGTA	0.532																																						ENST00000520727.1																			2	Substitution - Missense(2)	p.A606T(1)|p.A594T(1)	lung(2)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1780-1782)Gca>Aca		zinc finger and AT hook domain containing							55.0	57.0	56.0					8																	135614146		1980	4178	6158	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614146C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1816G>A	8.37:g.135614146C>T	ENSP00000367069:p.Ala606Thr					ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT_ENST00000377838.3_Missense_Mutation_p.A606T|ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T	p.A594T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	2079	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		606					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1780G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.514163	0.00975	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.10005	2.99;2.92;2.92;2.92;2.92;2.94	5.25	-6.7	0.01766	.	1.892650	0.02219	N	0.063857	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.19935	0.04;0.01;0.003;0.001	B;B;B;B	0.12837	0.008;0.004;0.002;0.001	T	0.25813	-1.0121	10	0.44086	T	0.13	-0.0204	1.9495	0.03364	0.1549:0.2715:0.1635:0.4101	.	544;594;594;606	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	T	594;594;594;606;594;493;544;594	ENSP00000427879:A594T;ENSP00000427831:A594T;ENSP00000394501:A594T;ENSP00000367069:A606T;ENSP00000428483:A594T;ENSP00000429091:A544T	ENSP00000326997:A493T	A	-	1	0	ZFAT	135683328	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.674000	0.05233	-1.512000	0.01791	-1.332000	0.01269	GCA		0.532	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		71	262	0	0	0	1	0	71	262				
ARHGAP21	57584	broad.mit.edu	37	10	24889643	24889643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24889643C>T	ENST00000396432.2	-	14	3550	c.3064G>A	c.(3064-3066)Gct>Act	p.A1022T	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1021	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTCTTCAGCCTGAAACAGG	0.458																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3064-3066)Gct>Act		Rho GTPase activating protein 21							141.0	132.0	135.0					10																	24889643		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889643C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3064G>A	10.37:g.24889643C>T	ENSP00000379709:p.Ala1022Thr					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T|ARHGAP21_ENST00000493154.1_5'UTR	p.A1022T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			14	3550	-			1021			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.3064G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005133	0.93287	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	6.02	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047686	0.85682	D	0.000000	D	0.92205	0.7528	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92537	0.6038	10	0.51188	T	0.08	.	16.5796	0.84711	0.1313:0.8687:0.0:0.0	.	1012;1021	F8W9U9;Q5T5U3	.;RHG21_HUMAN	T	1022;809;1012;1022;857	ENSP00000379709:A1022T;ENSP00000365604:A809T;ENSP00000365592:A1012T;ENSP00000405018:A1022T	ENSP00000365604:A809T	A	-	1	0	ARHGAP21	24929649	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.767000	0.85331	1.518000	0.48934	0.655000	0.94253	GCT		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		112	464	0	0	0	1	0	112	464				
N4BP2	55728	broad.mit.edu	37	4	40122325	40122325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122325G>T	ENST00000261435.6	+	9	3010	c.2594G>T	c.(2593-2595)aGc>aTc	p.S865I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	865					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCACTCAATAGCTATAAATAT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2593-2595)aGc>aTc		NEDD4 binding protein 2							59.0	60.0	60.0					4																	40122325		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122325G>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2594G>T	4.37:g.40122325G>T	ENSP00000261435:p.Ser865Ile						p.S865I	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	3010	+			865					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2594G>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.638|8.638	0.895275|0.895275	0.17613|0.17613	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19806|.	2.12|.	5.64|5.64	0.519|0.519	0.17035|0.17035	.|.	0.874397|.	0.10375|.	N|.	0.682311|.	T|.	0.36936|.	0.0985|.	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	P;B|.	0.37207|.	0.587;0.451|.	B;B|.	0.36464|.	0.225;0.112|.	T|.	0.32052|.	-0.9921|.	10|.	0.62326|.	D|.	0.03|.	-1.8524|-1.8524	2.9096|2.9096	0.05732|0.05732	0.1304:0.3175:0.3411:0.211|0.1304:0.3175:0.3411:0.211	.|.	865;865|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	865;785|511	ENSP00000261435:S865I|.	ENSP00000261435:S865I|.	S|X	+|+	2|3	0|2	N4BP2|N4BP2	39798720|39798720	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	-0.085000|-0.085000	0.11250|0.11250	0.037000|0.037000	0.15575|0.15575	0.561000|0.561000	0.74099|0.74099	AGC|TAG		0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		39	201	1	0	3.09479e-21	1	3.48195e-21	39	201				
ATXN10	25814	broad.mit.edu	37	22	46125440	46125440	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46125440G>A	ENST00000252934.5	+	7	1129	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ATXN10_ENST00000381061.4_Silent_p.K224K	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	288					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTGTGCTCAAGCTGGCCTCTG	0.502																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(862-864)aaG>aaA		ataxin 10							128.0	99.0	109.0					22																	46125440		2203	4300	6503	SO:0001819	synonymous_variant	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46125440G>A	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.864G>A	22.37:g.46125440G>A						ATXN10_ENST00000381061.4_Silent_p.K224K	p.K288K	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	7	1129	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	288					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Silent	SNP	ENST00000252934.5	37	c.864G>A	CCDS14070.1																																																																																				0.502	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		78	335	0	0	0	1	0	78	335				
NLGN3	54413	broad.mit.edu	37	X	70375079	70375079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70375079G>A	ENST00000358741.3	+	5	896	c.593G>A	c.(592-594)gGt>gAt	p.G198D	NLGN3_ENST00000374051.3_Missense_Mutation_p.G178D|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G158D	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	198					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGGGACAGTGGTGCTAAACCC	0.602																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(532-534)gGt>gAt		neuroligin 3							171.0	109.0	130.0					X																	70375079		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70375079G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.593G>A	X.37:g.70375079G>A	ENSP00000351591:p.Gly198Asp					NLGN3_ENST00000358741.3_Missense_Mutation_p.G198D|NLGN3_ENST00000536169.1_Missense_Mutation_p.G158D|NLGN3_ENST00000476589.1_3'UTR	p.G178D	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			4	855	+	Renal(35;0.156)		198					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.533G>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369061	0.42003	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	N	0.21545	0.675	0.58432	D	0.999996	B;B;B	0.32653	0.053;0.022;0.379	B;B;B	0.41646	0.362;0.029;0.248	T	0.56226	-0.8014	10	0.46703	T	0.11	.	16.4607	0.84044	0.0:0.0:1.0:0.0	.	158;158;178	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	D	158;61;178;158;198	ENSP00000445298:G158D;ENSP00000363163:G178D;ENSP00000379196:G158D;ENSP00000351591:G198D	ENSP00000351591:G198D	G	+	2	0	NLGN3	70291804	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.399000	0.79935	2.054000	0.61138	0.544000	0.68410	GGT		0.602	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		6	208	0	0	0	1	0	6	208				
DNAH2	146754	broad.mit.edu	37	17	7691221	7691221	+	Missense_Mutation	SNP	C	C	T	rs142583624	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691221C>T	ENST00000572933.1	+	43	8107	c.6647C>T	c.(6646-6648)cCg>cTg	p.P2216L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P2216L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2216	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGCCTCTCCGGCCACTGTA	0.532													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		17109	0.0		0.0	False		,,,				2504	0.0					ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6646-6648)cCg>cTg		dynein, axonemal, heavy chain 2		C	LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	69.0	67.0	68.0		6647	5.1	1.0	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DNAH2	NM_020877.2	98	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	2216/4428	7691221	7,12999	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691221C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6647C>T	17.37:g.7691221C>T	ENSP00000458355:p.Pro2216Leu					DNAH2_ENST00000389173.2_Missense_Mutation_p.P2216L	p.P2216L			Q9P225	DYH2_HUMAN			43	8107	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2216			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6647C>T	CCDS32551.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.264746	0.80358	0.001589	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.98901	-5.22	5.07	5.07	0.68467	ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99379	1.0922	10	0.87932	D	0	.	17.3715	0.87379	0.0:1.0:0.0:0.0	.	2216	Q9P225	DYH2_HUMAN	L	2216	ENSP00000373825:P2216L	ENSP00000353818:P2216L	P	+	2	0	DNAH2	7631946	1.000000	0.71417	0.988000	0.46212	0.358000	0.29455	7.181000	0.77682	2.631000	0.89168	0.561000	0.74099	CCG		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		29	316	0	0	0	1	0	29	316				
POSTN	10631	broad.mit.edu	37	13	38154704	38154704	+	Missense_Mutation	SNP	C	C	T	rs200308301		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38154704C>T	ENST00000379747.4	-	11	1640	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H|POSTN_ENST00000541179.1_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H|POSTN_ENST00000541481.1_Missense_Mutation_p.R508H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	508	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACCTAAAGCGCTTATCTTG	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.0		0.001	False		,,,				2504	0.0					ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1522-1524)cGc>cAc		periostin, osteoblast specific factor							271.0	260.0	264.0					13																	38154704		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154704C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1523G>A	13.37:g.38154704C>T	ENSP00000369071:p.Arg508His					POSTN_ENST00000541179.1_Missense_Mutation_p.R508H|POSTN_ENST00000541481.1_Missense_Mutation_p.R508H|POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H	p.R508H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	11	1640	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	508			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1523G>A	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.551710	0.86127	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	5.02	5.02	0.67125	FAS1 domain (4);	0.290945	0.39475	N	0.001349	D	0.96210	0.8764	M	0.80183	2.485	0.45066	D	0.998089	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.993;0.998;0.995;0.975;0.993	D	0.96451	0.9334	10	0.62326	D	0.03	-9.2511	18.6988	0.91613	0.0:1.0:0.0:0.0	.	508;508;508;508;508;508;508	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	H	508	ENSP00000437959:R508H;ENSP00000369073:R508H;ENSP00000369071:R508H;ENSP00000369067:R508H;ENSP00000369066:R508H;ENSP00000437953:R508H	ENSP00000369066:R508H	R	-	2	0	POSTN	37052704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.236000	0.65354	2.472000	0.83506	0.557000	0.71058	CGC		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		71	792	0	0	0	1	0	71	792				
RANBP17	64901	broad.mit.edu	37	5	170668042	170668042	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170668042T>C	ENST00000523189.1	+	23	2697	c.2533T>C	c.(2533-2535)Tat>Cat	p.Y845H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	845					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTGGAAATTATGTCAGCTT	0.453			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2533-2535)Tat>Cat		RAN binding protein 17							275.0	261.0	266.0					5																	170668042		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170668042T>C	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2533T>C	5.37:g.170668042T>C	ENSP00000427975:p.Tyr845His					RANBP17_ENST00000521759.1_3'UTR	p.Y845H	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		23	2697	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	845					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2533T>C	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455417	0.84209	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.63255	-0.03	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.50627	D	0.000108	D	0.84092	0.5396	M	0.93808	3.46	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88025	0.2771	10	0.59425	D	0.04	-9.9405	15.4819	0.75534	0.0:0.0:0.0:1.0	.	845;845	Q546R4;Q9H2T7	.;RBP17_HUMAN	H	845;275	ENSP00000427975:Y845H	ENSP00000427975:Y845H	Y	+	1	0	RANBP17	170600647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	2.067000	0.61834	0.455000	0.32223	TAT		0.453	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		243	892	0	0	0	1	0	243	892				
C4orf50	389197	broad.mit.edu	37	4	5966868	5966868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5966868C>T	ENST00000324058.5	-	6	551	c.462G>A	c.(460-462)caG>caA	p.Q154Q	C4orf50_ENST00000531445.1_Silent_p.Q628Q			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	154										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGTATGTCTGAGCTGGAA	0.507																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1882-1884)caG>caA		chromosome 4 open reading frame 50							69.0	74.0	72.0					4																	5966868		2203	4300	6503	SO:0001819	synonymous_variant	389197							g.chr4:5966868C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.462G>A	4.37:g.5966868C>T						C4orf50_ENST00000324058.5_Silent_p.Q154Q	p.Q628Q			Q6ZRC1	CD050_HUMAN			6	1930	-			154						Silent	SNP	ENST00000324058.5	37	c.1884G>A																																																																																					0.507	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		39	212	0	0	0	1	0	39	212				
NDUFV3	4731	broad.mit.edu	37	21	44324264	44324264	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44324264A>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.E381G|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AGCAATTTGGAGACAGTTCCT	0.562																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1141-1143)gAg>gGg		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						72.0	65.0	67.0					21																	44324264		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44324264A>G		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-4710A>G	21.37:g.44324264A>G						NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.E381G	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	1211	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.1142A>G	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726345	0.30593	.	.	ENSG00000160194	ENST00000354250	.	.	.	3.98	2.8	0.32819	.	0.616685	0.14368	N	0.323983	T	0.21631	0.0521	N	0.19112	0.55	0.09310	N	0.999997	B	0.32160	0.358	B	0.29785	0.107	T	0.15009	-1.0452	9	0.66056	D	0.02	-3.5623	6.7624	0.23548	0.8858:0.0:0.1142:0.0	.	381	P56181-2	.	G	381	.	ENSP00000346196:E381G	E	+	2	0	NDUFV3	43197333	0.000000	0.05858	0.031000	0.17742	0.058000	0.15608	0.493000	0.22451	0.641000	0.30601	0.459000	0.35465	GAG		0.562	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			44	175	0	0	0	1	0	44	175				
COL17A1	1308	broad.mit.edu	37	10	105813871	105813871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105813871G>A	ENST00000353479.5	-	21	2040	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	584	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGAACCCTCGATCTCCTGCA	0.532																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(1750-1752)Cga>Tga		collagen, type XVII, alpha 1							51.0	48.0	49.0					10																	105813871		2203	4300	6503	SO:0001587	stop_gained	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105813871G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1750C>T	10.37:g.105813871G>A	ENSP00000340937:p.Arg584*					COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*	p.R584*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	21	2040	-		Colorectal(252;0.103)|Breast(234;0.122)	584			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	37	c.1750C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775084	0.96922	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	.	.	.	4.98	3.03	0.35002	.	0.194758	0.25230	N	0.032179	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.486	11.3663	0.49673	0.0:0.0:0.6726:0.3274	.	.	.	.	X	584;584;568	.	ENSP00000340937:R584X	R	-	1	2	COL17A1	105803861	0.756000	0.28383	0.090000	0.20809	0.101000	0.19017	1.045000	0.30341	1.087000	0.41251	-0.475000	0.04921	CGA		0.532	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		11	51	0	0	0	1	0	11	51				
ADAP2	55803	broad.mit.edu	37	17	29284866	29284866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29284866G>A	ENST00000330889.3	+	11	1460	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	ADAP2_ENST00000580525.1_Silent_p.E381E|AC091177.1_ENST00000442757.1_RNA|RN7SL138P_ENST00000577405.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	375					heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATCAACAGAGAGTGGCCGCA	0.582																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1123-1125)gaG>gaA		ArfGAP with dual PH domains 2							67.0	54.0	59.0					17																	29284866		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29284866G>A	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.1125G>A	17.37:g.29284866G>A						ADAP2_ENST00000580525.1_Silent_p.E381E	p.E375E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			11	1460	+			375					Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.1125G>A	CCDS11261.1																																																																																				0.582	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		15	90	0	0	0	1	0	15	90				
SAA1	6288	broad.mit.edu	37	11	18290872	18290872	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18290872A>C	ENST00000405158.2	+	3	406	c.222A>C	c.(220-222)gaA>gaC	p.E74D	SAA1_ENST00000532858.1_Missense_Mutation_p.E74D|RNA5SP334_ENST00000364825.1_RNA|SAA1_ENST00000356524.4_Missense_Mutation_p.E74D	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	74					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGGCTGCAGAAGTGATCACGT	0.557																																						ENST00000405158.2																			0				endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9						c.(220-222)gaA>gaC		serum amyloid A1	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						18.0	19.0	18.0					11																	18290872		2189	4255	6444	SO:0001583	missense	6288				acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding	g.chr11:18290872A>C	M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"""Endogenous ligands"""	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.222A>C	11.37:g.18290872A>C	ENSP00000384906:p.Glu74Asp					SAA1_ENST00000532858.1_Missense_Mutation_p.E74D|SAA1_ENST00000356524.4_Missense_Mutation_p.E74D	p.E74D	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN			3	406	+			74					P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	37	c.222A>C	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499676	0.44455	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.10763	2.84;2.84;2.84	3.23	0.744	0.18353	.	0.647219	0.15120	N	0.279424	T	0.18467	0.0443	M	0.78456	2.415	0.09310	N	1	B;P	0.43412	0.39;0.806	B;P	0.47864	0.161;0.559	T	0.07558	-1.0766	10	0.87932	D	0	.	6.286	0.21033	0.7704:0.0:0.2296:0.0	.	74;74	D3DQX7;P02735	.;SAA_HUMAN	D	74	ENSP00000348918:E74D;ENSP00000436866:E74D;ENSP00000384906:E74D	ENSP00000348918:E74D	E	+	3	2	SAA1	18247448	0.933000	0.31639	0.001000	0.08648	0.021000	0.10359	1.641000	0.37197	0.136000	0.18733	0.374000	0.22700	GAA		0.557	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161		4	57	0	0	0	1	0	4	57				
TICAM1	148022	broad.mit.edu	37	19	4817507	4817507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4817507C>A	ENST00000248244.5	-	2	1112	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	295	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGCTGGTTTCTGGAGCTGCG	0.637																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(883-885)Gaa>Taa		toll-like receptor adaptor molecule 1							31.0	37.0	35.0					19																	4817507		2203	4300	6503	SO:0001587	stop_gained	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817507C>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.883G>T	19.37:g.4817507C>A	ENSP00000248244:p.Glu295*						p.E295*	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	1112	-			295			Pro-rich.		B3Y691|O75532|Q86XP8|Q96GA0	Nonsense_Mutation	SNP	ENST00000248244.5	37	c.883G>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278236	0.95459	.	.	ENSG00000127666	ENST00000248244	.	.	.	4.1	0.392	0.16288	.	1.162720	0.06964	U	0.816853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.3724	5.8491	0.18683	0.0:0.6612:0.1558:0.183	.	.	.	.	X	295	.	ENSP00000248244:E295X	E	-	1	0	TICAM1	4768507	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.188000	0.09642	-0.022000	0.13986	0.297000	0.19635	GAA		0.637	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		40	221	1	0	2.19358e-23	1	2.49351e-23	40	221				
FBXO17	115290	broad.mit.edu	37	19	39437163	39437163	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39437163A>G	ENST00000292852.4	-	4	847	c.506T>C	c.(505-507)gTg>gCg	p.V169A	SARS2_ENST00000448145.2_Missense_Mutation_p.V4A|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A|CTC-360G5.8_ENST00000599996.1_Silent_p.G73G	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	169	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTGCCACACCCCTTCCAT	0.617																																						ENST00000292852.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(505-507)gTg>gCg		F-box protein 17							83.0	66.0	72.0					19																	39437163		2203	4300	6503	SO:0001583	missense	115290							g.chr19:39437163A>G	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.506T>C	19.37:g.39437163A>G	ENSP00000292852:p.Val169Ala					CTC-360G5.8_ENST00000599996.1_Silent_p.G73G|SARS2_ENST00000448145.2_Missense_Mutation_p.V4A|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A	p.V169A	NM_024907.5	NP_079183.4			Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	847	-	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)							Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	c.506T>C	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199659	0.38905	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.32272	1.46;1.46	4.25	4.25	0.50352	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.321927	0.21695	N	0.070509	T	0.22859	0.0552	L	0.29908	0.895	.	.	.	B;B	0.22541	0.071;0.037	B;B	0.22880	0.042;0.042	T	0.27365	-1.0076	9	0.66056	D	0.02	.	9.9197	0.41457	1.0:0.0:0.0:0.0	.	4;169	E7EX87;Q96EF6	.;FBX17_HUMAN	A	4;178;169	ENSP00000399330:V4A;ENSP00000292852:V169A	ENSP00000292852:V169A	V	-	2	0	FBXO17	44129003	0.758000	0.28405	0.633000	0.29310	0.777000	0.43975	2.350000	0.44063	1.914000	0.55421	0.374000	0.22700	GTG		0.617	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		42	200	0	0	0	1	0	42	200				
RFTN2	130132	broad.mit.edu	37	2	198460765	198460765	+	Missense_Mutation	SNP	C	C	T	rs199832032		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460765C>T	ENST00000295049.4	-	8	1719	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	395					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAAGGAATACGATCTGCTTT	0.323																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(1183-1185)Gta>Ata		raftlin family member 2							98.0	89.0	92.0					2																	198460765		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198460765C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1183G>A	2.37:g.198460765C>T	ENSP00000295049:p.Val395Ile						p.V395I	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			8	1719	-			395					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.1183G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	6.009	0.369996	0.11352	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.45668	0.89;0.89	5.34	2.6	0.31112	.	0.348813	0.29544	N	0.011841	T	0.39358	0.1075	M	0.73962	2.25	0.18873	N	0.999984	B	0.29378	0.243	B	0.20184	0.028	T	0.37753	-0.9692	10	0.66056	D	0.02	-12.8816	9.085	0.36577	0.0:0.7705:0.0:0.2295	.	395	Q52LD8	RFTN2_HUMAN	I	395;77	ENSP00000295049:V395I;ENSP00000387459:V77I	ENSP00000295049:V395I	V	-	1	0	RFTN2	198169010	0.818000	0.29161	0.008000	0.14137	0.004000	0.04260	1.140000	0.31516	0.498000	0.27948	-0.133000	0.14855	GTA		0.323	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		17	266	0	0	0	1	0	17	266				
CCNE2	9134	broad.mit.edu	37	8	95900214	95900214	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95900214T>G	ENST00000520509.1	-	7	793	c.541A>C	c.(541-543)Aat>Cat	p.N181H	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H|CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	181					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ATATTTTTATTTATATCCTTT	0.294																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(541-543)Aat>Cat		cyclin E2							61.0	66.0	65.0					8																	95900214		2196	4271	6467	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95900214T>G	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.541A>C	8.37:g.95900214T>G	ENSP00000429089:p.Asn181His					CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H|CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H|CCNE2_ENST00000523476.1_5'UTR	p.N181H			O96020	CCNE2_HUMAN			7	793	-	Breast(36;8.75e-07)		181					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.541A>C	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.828|8.828	0.939186|0.939186	0.18281|0.18281	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133|ENST00000524224	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.246397|.	0.50627|.	D|.	0.000115|.	T|.	0.55955|.	0.1953|.	L|L	0.28649|0.28649	0.875|0.875	0.46874|0.46874	D|D	0.999233|0.999233	B;D|.	0.67145|.	0.029;0.996|.	B;P|.	0.62014|.	0.065;0.897|.	T|.	0.52578|.	-0.8557|.	10|.	0.40728|.	T|.	0.16|.	.|.	15.8419|15.8419	0.78852|0.78852	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181;181|.	Q8WUE3;O96020|.	.;CCNE2_HUMAN|.	H|Y	181;181;73;181|44	ENSP00000429089:N181H;ENSP00000309181:N181H;ENSP00000379437:N181H|.	ENSP00000309181:N181H|.	N|X	-|-	1|3	0|2	CCNE2|CCNE2	95969390|95969390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.056000|2.056000	0.41355|0.41355	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.294	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		51	185	0	0	0	1	0	51	185				
BCCIP	56647	broad.mit.edu	37	10	127516166	127516166	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127516166G>T	ENST00000278100.6	+	3	292	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000299130.3_Missense_Mutation_p.D94Y|BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	94	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAACTAACAGATCTCTTAAT	0.308																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(280-282)Gat>Tat		BRCA2 and CDKN1A interacting protein							108.0	113.0	111.0					10																	127516166		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127516166G>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.280G>T	10.37:g.127516166G>T	ENSP00000278100:p.Asp94Tyr					BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000278100.6_Missense_Mutation_p.D94Y	p.D94Y	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			3	292	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	94			Interaction with BRCA2.		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.280G>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116374	0.56505	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.57	-0.773	0.10995	.	0.449301	0.25944	N	0.027300	T	0.69904	0.3163	M	0.92412	3.305	0.18873	N	0.999987	D;D;D;D;D	0.69078	0.993;0.992;0.995;0.997;0.979	D;D;D;D;D	0.73380	0.98;0.951;0.966;0.939;0.949	T	0.63175	-0.6696	10	0.87932	D	0	-1.4088	10.1274	0.42658	0.4075:0.0:0.5925:0.0	.	94;94;94;94;94	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	Y	94	ENSP00000278100:D94Y;ENSP00000299130:D94Y;ENSP00000357748:D94Y;ENSP00000394758:D94Y	ENSP00000278100:D94Y	D	+	1	0	BCCIP	127506156	0.828000	0.29307	0.003000	0.11579	0.970000	0.65996	1.817000	0.39002	-0.157000	0.11059	0.655000	0.94253	GAT		0.308	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			79	317	1	0	1.48072e-28	1	1.72364e-28	79	317				
BCHE	590	broad.mit.edu	37	3	165491178	165491178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165491178C>T	ENST00000264381.3	-	4	1967	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	601					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATTAGAGACCCACACAACTT	0.333																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1801-1803)Ggt>Agt		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						105.0	102.0	103.0					3																	165491178		2201	4298	6499	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165491178C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1801G>A	3.37:g.165491178C>T	ENSP00000264381:p.Gly601Ser					BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	p.G601S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			4	1967	-			601					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1801G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187387	0.57909	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.78003	-0.12;-1.14;-1.12	5.18	5.18	0.71444	Acetylcholinesterase, tetramerisation (2);	0.455528	0.22190	N	0.063389	T	0.73233	0.3561	L	0.45581	1.43	0.42790	D	0.993894	B	0.14805	0.011	B	0.18263	0.021	T	0.67530	-0.5647	10	0.25751	T	0.34	.	18.0353	0.89301	0.0:1.0:0.0:0.0	.	601	P06276	CHLE_HUMAN	S	601;131;63	ENSP00000264381:G601S;ENSP00000418325:G131S;ENSP00000443583:G63S	ENSP00000264381:G601S	G	-	1	0	BCHE	166973872	1.000000	0.71417	0.500000	0.27589	0.988000	0.76386	4.683000	0.61679	2.552000	0.86080	0.650000	0.86243	GGT		0.333	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			25	97	0	0	0	1	0	25	97				
DST	667	broad.mit.edu	37	6	56394248	56394248	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56394248G>A	ENST00000244364.6	-	47	9931	c.9724C>T	c.(9724-9726)Cgg>Tgg	p.R3242W	DST_ENST00000446842.2_Missense_Mutation_p.R5330W|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R5656W|DST_ENST00000370754.5_Missense_Mutation_p.R5834W|DST_ENST00000361203.3_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5654					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			caaaataCCCGAAGTTCAGAC	0.348																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(17500-17502)Cgg>Tgg		dystonin							38.0	35.0	36.0					6																	56394248		1841	4102	5943	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56394248G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9724C>T	6.37:g.56394248G>A	ENSP00000244364:p.Arg3242Trp					DST_ENST00000370769.4_Missense_Mutation_p.R5656W|DST_ENST00000244364.6_Missense_Mutation_p.R3242W|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000361203.3_Intron|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.R5330W	p.R5834W			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		66	17499	-	Lung NSC(77;0.103)		5654					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	c.17500C>T	CCDS47443.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461646	0.26248	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842	T;T;T;T;T	0.62788	1.25;-0.0;0.0;1.25;1.25	5.9	5.01	0.66863	.	0.182958	0.26122	N	0.026212	T	0.44932	0.1317	L	0.36672	1.1	0.27764	N	0.943715	D;B;B;B;B	0.65815	0.995;0.282;0.282;0.004;0.085	B;B;B;B;B	0.44315	0.446;0.018;0.018;0.002;0.013	T	0.55192	-0.8179	9	0.72032	D	0.01	.	16.0025	0.80306	0.0:0.0:0.8605:0.1395	.	3568;5656;5834;5654;3242	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	W	3242;5834;5656;3568;5330	ENSP00000244364:R3242W;ENSP00000359790:R5834W;ENSP00000359805:R5656W;ENSP00000400883:R3568W;ENSP00000393645:R5330W	ENSP00000244364:R3242W	R	-	1	2	DST	56502207	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.071000	0.64382	1.444000	0.47605	0.650000	0.86243	CGG		0.348	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		27	134	0	0	0	1	0	27	134				
CYP2C9	1559	broad.mit.edu	37	10	96707611	96707611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96707611G>A	ENST00000260682.6	+	4	569	c.557G>A	c.(556-558)cGt>cAt	p.R186H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	186					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCCATAAACGTTTTGATTAT	0.373																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(556-558)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						121.0	121.0	121.0					10																	96707611		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96707611G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.557G>A	10.37:g.96707611G>A	ENSP00000260682:p.Arg186His						p.R186H	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	4	569	+		Colorectal(252;0.0902)	186					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.557G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.100572	0.56183	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.14022	2.54	3.55	3.55	0.40652	.	0.000000	0.64402	U	0.000001	T	0.21468	0.0517	M	0.86864	2.845	0.39244	D	0.963903	P;P	0.49447	0.924;0.924	B;B	0.40228	0.323;0.323	T	0.36187	-0.9758	10	0.46703	T	0.11	.	12.9549	0.58421	0.0:0.0:1.0:0.0	.	186;186	Q5VX92;P11712	.;CP2C9_HUMAN	H	186	ENSP00000260682:R186H	ENSP00000260682:R186H	R	+	2	0	CYP2C9	96697601	1.000000	0.71417	0.742000	0.31022	0.906000	0.53458	4.197000	0.58413	1.955000	0.56771	0.491000	0.48974	CGT		0.373	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		65	613	0	0	0	1	0	65	613				
VWCE	220001	broad.mit.edu	37	11	61048181	61048181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61048181C>A	ENST00000335613.5	-	9	1625	c.1239G>T	c.(1237-1239)aaG>aaT	p.K413N		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	413	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACAGGTCACCTTCCCGTCCT	0.602																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1237-1239)aaG>aaT		von Willebrand factor C and EGF domains							115.0	93.0	100.0					11																	61048181		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61048181C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1239G>T	11.37:g.61048181C>A	ENSP00000334186:p.Lys413Asn						p.K413N	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			9	1625	-			413			VWFC 1.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1239G>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776415	0.16051	.	.	ENSG00000167992	ENST00000335613	T	0.73789	-0.78	5.65	0.467	0.16721	von Willebrand factor, type C (4);	0.478171	0.19258	N	0.118755	T	0.41534	0.1163	N	0.03268	-0.37	0.53005	D	0.999965	B	0.09022	0.002	B	0.09377	0.004	T	0.04078	-1.0979	10	0.19590	T	0.45	.	1.8569	0.03181	0.1254:0.3965:0.122:0.3561	.	413	Q96DN2	VWCE_HUMAN	N	413	ENSP00000334186:K413N	ENSP00000334186:K413N	K	-	3	2	VWCE	60804757	0.378000	0.25114	0.454000	0.27019	0.687000	0.40016	-0.021000	0.12504	-0.151000	0.11176	-0.136000	0.14681	AAG		0.602	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		37	192	1	0	3.33393e-15	1	3.63836e-15	37	192				
ELMOD1	55531	broad.mit.edu	37	11	107501173	107501173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107501173C>A	ENST00000265840.7	+	3	313	c.48C>A	c.(46-48)taC>taA	p.Y16*	ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*|ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y10*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	16					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TGTATTTTTACTGTAAATTTC	0.428																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(46-48)taC>taA		ELMO/CED-12 domain containing 1							60.0	53.0	55.0					11																	107501173		1851	4091	5942	SO:0001587	stop_gained	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107501173C>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.48C>A	11.37:g.107501173C>A	ENSP00000265840:p.Tyr16*					ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*|ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y10*	p.Y16*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	3	313	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	16					B4E167|G5E9S5|Q9NPW3	Nonsense_Mutation	SNP	ENST00000265840.7	37	c.48C>A	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	C	37	6.384358	0.97524	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.47	2.56	0.30785	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8347	0.40963	0.0:0.7197:0.0:0.2803	.	.	.	.	X	10;16;16	.	ENSP00000265840:Y16X	Y	+	3	2	ELMOD1	107006383	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.393000	0.44442	0.272000	0.22027	0.655000	0.94253	TAC		0.428	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		10	44	1	0	7.48243e-07	1	7.73841e-07	10	44				
NPHS1	4868	broad.mit.edu	37	19	36340237	36340237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36340237C>T	ENST00000378910.5	-	7	740	c.741G>A	c.(739-741)tgG>tgA	p.W247*	NPHS1_ENST00000353632.6_Nonsense_Mutation_p.W247*|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	247	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGCCTGGCCACTCGATGA	0.637																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(739-741)tgG>tgA		nephrosis 1, congenital, Finnish type (nephrin)							21.0	21.0	21.0					19																	36340237		2203	4297	6500	SO:0001587	stop_gained	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340237C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.741G>A	19.37:g.36340237C>T	ENSP00000368190:p.Trp247*					NPHS1_ENST00000353632.6_Nonsense_Mutation_p.W247*	p.W247*	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	740	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		247			Ig-like C2-type 3.		A6NDH2|C3RX61	Nonsense_Mutation	SNP	ENST00000378910.5	37	c.741G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	37	6.074847	0.97262	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	.	.	.	4.96	4.96	0.65561	.	0.000000	0.45126	D	0.000398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-12.0577	13.646	0.62281	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000343634:W247X	W	-	3	0	NPHS1	41032077	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	1.486000	0.35530	2.602000	0.87976	0.586000	0.80456	TGG		0.637	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			7	179	0	0	0	1	0	7	179				
BLM	641	broad.mit.edu	37	15	91346826	91346826	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91346826T>G	ENST00000355112.3	+	18	3552	c.3434T>G	c.(3433-3435)cTt>cGt	p.L1145R	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1145					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCCGAAAGACTTTTTAAAAAG	0.383			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3433-3435)cTt>cGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							89.0	89.0	89.0					15																	91346826		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91346826T>G	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3434T>G	15.37:g.91346826T>G	ENSP00000347232:p.Leu1145Arg					BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.L1145R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		18	3552	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1145					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.3434T>G	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405061	0.83230	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.56103	0.48	5.65	5.65	0.86999	RQC domain (2);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.90425	3.115	0.80722	D	1	P	0.51791	0.948	P	0.55011	0.766	T	0.79196	-0.1903	10	0.87932	D	0	-1.4901	13.8364	0.63413	0.0:0.0:0.0:1.0	.	1145	P54132	BLM_HUMAN	R	1145;775;332	ENSP00000347232:L1145R	ENSP00000347232:L1145R	L	+	2	0	BLM	89147830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.163000	0.67991	0.459000	0.35465	CTT		0.383	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			86	375	0	0	0	1	0	86	375				
FAR2	55711	broad.mit.edu	37	12	29469871	29469871	+	Silent	SNP	C	C	T	rs370238878		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29469871C>T	ENST00000536681.3	+	9	1299	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	FAR2_ENST00000182377.4_Silent_p.Y351Y|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.Y254Y	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	351					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CATCACAGTACTGGAATGCGG	0.498																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(1051-1053)taC>taT		fatty acyl CoA reductase 2		C		1,4405	2.1+/-5.4	0,1,2202	144.0	150.0	148.0		1053	2.4	1.0	12		148	0,8600		0,0,4300	no	coding-synonymous	FAR2	NM_018099.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		351/516	29469871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29469871C>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1053C>T	12.37:g.29469871C>T						FAR2_ENST00000547116.1_Silent_p.Y254Y|FAR2_ENST00000536681.2_Silent_p.Y351Y|RP11-996F15.2_ENST00000553105.1_RNA	p.Y351Y	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			9	1321	+			351					F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.1053C>T	CCDS8717.1																																																																																				0.498	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		236	1011	0	0	0	1	0	236	1011				
SLC46A2	57864	broad.mit.edu	37	9	115652542	115652542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115652542C>T	ENST00000374228.4	-	1	651	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	140					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGTTCAGCGCCGCCGCCCCGT	0.692																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(418-420)gcG>gcA		solute carrier family 46, member 2							23.0	28.0	26.0					9																	115652542		2198	4290	6488	SO:0001819	synonymous_variant	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652542C>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.420G>A	9.37:g.115652542C>T							p.A140A	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			1	651	-			140					B1ALK1|Q86VT0|Q96NE2	Silent	SNP	ENST00000374228.4	37	c.420G>A	CCDS6786.1																																																																																				0.692	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		43	238	0	0	0	1	0	43	238				
PNPT1	87178	broad.mit.edu	37	2	55874502	55874502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55874502G>A	ENST00000447944.2	-	19	1668	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	528					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCAGCAAACGATAATCTTCT	0.313																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(1582-1584)Cgt>Tgt		polyribonucleotide nucleotidyltransferase 1							94.0	96.0	95.0					2																	55874502		2203	4300	6503	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55874502G>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1582C>T	2.37:g.55874502G>A	ENSP00000400646:p.Arg528Cys						p.R528C	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		19	1668	-			528					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1582C>T	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486391	0.63962	.	.	ENSG00000138035	ENST00000447944	T	0.44083	0.93	5.54	5.54	0.83059	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.55481	1.735	0.80722	D	1	P	0.44090	0.826	B	0.43701	0.428	T	0.50206	-0.8855	10	0.66056	D	0.02	-5.3929	19.831	0.96636	0.0:0.0:1.0:0.0	.	528	Q8TCS8	PNPT1_HUMAN	C	528	ENSP00000400646:R528C	ENSP00000386075:R528C	R	-	1	0	PNPT1	55728006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.755000	0.94549	0.563000	0.77884	CGT		0.313	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		79	477	0	0	0	1	0	79	477				
SMCR8	140775	broad.mit.edu	37	17	18221147	18221147	+	Missense_Mutation	SNP	G	G	A	rs565417602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18221147G>A	ENST00000406438.3	+	1	2524	c.2044G>A	c.(2044-2046)Gcg>Acg	p.A682T	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	682						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGCAGTGTAGCGTCCACCAG	0.562													G|||	3	0.000599042	0.0	0.0	5008	,	,		20595	0.0		0.0	False		,,,				2504	0.0031					ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2044-2046)Gcg>Acg		Smith-Magenis syndrome chromosome region, candidate 8							74.0	72.0	72.0					17																	18221147		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18221147G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2044G>A	17.37:g.18221147G>A	ENSP00000385025:p.Ala682Thr						p.A682T	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	2524	+			682					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.2044G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697484	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.44881	0.91	5.87	3.89	0.44902	.	0.323922	0.33127	N	0.005241	T	0.26448	0.0646	N	0.19112	0.55	0.25367	N	0.988735	B	0.15141	0.012	B	0.12156	0.007	T	0.14476	-1.0471	10	0.30854	T	0.27	-7.5156	9.9537	0.41653	0.2648:0.0:0.7352:0.0	.	682	Q8TEV9	SMCR8_HUMAN	T	682	ENSP00000385025:A682T	ENSP00000385025:A682T	A	+	1	0	SMCR8	18161872	0.523000	0.26274	0.686000	0.30086	0.813000	0.45954	1.651000	0.37302	0.942000	0.37525	0.655000	0.94253	GCG		0.562	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		58	248	0	0	0	1	0	58	248				
PLCG2	5336	broad.mit.edu	37	16	81942147	81942147	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81942147C>A	ENST00000359376.3	+	17	1898	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	562	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGCACCTTCCTGGTTCGGGA	0.572																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1684-1686)Ctg>Atg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							71.0	79.0	76.0					16																	81942147		2035	4178	6213	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81942147C>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1684C>A	16.37:g.81942147C>A	ENSP00000352336:p.Leu562Met						p.L562M	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			17	1898	+			562			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1684C>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245294	0.59103	.	.	ENSG00000197943	ENST00000359376	T	0.60672	0.17	4.72	-2.06	0.07298	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (4);	0.081372	0.49916	D	0.000134	T	0.69024	0.3065	M	0.83692	2.655	0.54753	D	0.999986	D;P	0.59357	0.985;0.771	P;P	0.58928	0.848;0.714	T	0.71094	-0.4692	10	0.49607	T	0.09	.	11.9618	0.53013	0.0:0.5831:0.0:0.4169	.	429;562	B4E3H3;P16885	.;PLCG2_HUMAN	M	562	ENSP00000352336:L562M	ENSP00000352336:L562M	L	+	1	2	PLCG2	80499648	0.191000	0.23288	0.991000	0.47740	0.938000	0.57974	-0.480000	0.06559	-0.368000	0.08040	-0.251000	0.11542	CTG		0.572	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			37	157	1	0	6.2361e-21	1	7.00342e-21	37	157				
ATG2B	55102	broad.mit.edu	37	14	96813603	96813603	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96813603A>G	ENST00000359933.4	-	2	1131	c.238T>C	c.(238-240)Tca>Cca	p.S80P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	80					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATGGAACTGACAGGGAAATT	0.458																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(238-240)Tca>Cca		autophagy related 2B							98.0	97.0	97.0					14																	96813603		1966	4172	6138	SO:0001583	missense	55102							g.chr14:96813603A>G	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.238T>C	14.37:g.96813603A>G	ENSP00000353010:p.Ser80Pro						p.S80P	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	2	1131	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	80					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.238T>C	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720166	0.68844	.	.	ENSG00000066739	ENST00000359933	D	0.83163	-1.69	5.39	5.39	0.77823	.	0.082874	0.49916	U	0.000134	D	0.88923	0.6569	M	0.71581	2.175	0.45227	D	0.998237	D	0.60575	0.988	P	0.59357	0.856	D	0.89978	0.4098	10	0.62326	D	0.03	.	15.3981	0.74812	1.0:0.0:0.0:0.0	.	80	Q96BY7	ATG2B_HUMAN	P	80	ENSP00000353010:S80P	ENSP00000353010:S80P	S	-	1	0	ATG2B	95883356	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.667000	0.68067	2.046000	0.60703	0.459000	0.35465	TCA		0.458	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		32	183	0	0	0	1	0	32	183				
SCAPER	49855	broad.mit.edu	37	15	76696915	76696915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76696915G>A	ENST00000563290.1	-	27	3512	c.3417C>T	c.(3415-3417)gcC>gcT	p.A1139A	SCAPER_ENST00000538941.2_Silent_p.A893A|SCAPER_ENST00000324767.7_Silent_p.A1139A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1139			A -> T (in dbSNP:rs3743176).			endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGAGTCCTGCGGCATGCTGCA	0.478																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(2677-2679)gcC>gcT		S-phase cyclin A-associated protein in the ER							201.0	184.0	189.0					15																	76696915		2054	4199	6253	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76696915G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3417C>T	15.37:g.76696915G>A						SCAPER_ENST00000324767.7_Silent_p.A1139A|SCAPER_ENST00000563290.1_Silent_p.A1139A	p.A893A	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			27	3618	-			1138					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.2679C>T	CCDS53962.1																																																																																				0.478	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		101	554	0	0	0	1	0	101	554				
ZNF432	9668	broad.mit.edu	37	19	52550105	52550105	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52550105A>G	ENST00000594154.1	-	2	228		c.e2+1		ZNF432_ENST00000221315.5_Splice_Site|ZNF432_ENST00000598446.1_5'Flank|ZNF432_ENST00000597273.1_Splice_Site			O94892	ZN432_HUMAN	zinc finger protein 432						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGAAAAAGTCACCTGGGCATT	0.363																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.e2+1		zinc finger protein 432							86.0	78.0	81.0					19																	52550105		2203	4300	6503	SO:0001630	splice_region_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52550105A>G	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.15+1T>C	19.37:g.52550105A>G						ZNF432_ENST00000221315.5_Splice_Site|ZNF432_ENST00000597273.1_Splice_Site				O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	2	228	-		all_neural(266;0.117)							Splice_Site	SNP	ENST00000594154.1	37		CCDS12848.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614332	0.28712	.	.	ENSG00000256087	ENST00000221315	.	.	.	2.8	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4475	0.27219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF432	57241917	0.993000	0.37304	0.933000	0.37362	0.574000	0.36063	2.304000	0.43655	1.508000	0.48769	0.496000	0.49642	.		0.363	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	Intron	37	173	0	0	0	1	0	37	173				
TRIM49	57093	broad.mit.edu	37	11	89537566	89537566	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89537566G>A	ENST00000329758.1	-	3	400	c.72C>T	c.(70-72)gaC>gaT	p.D24D	TRIM49_ENST00000532501.2_Silent_p.D24D	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	24						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGGTGACCGGGTCTATGAAGT	0.468																																						ENST00000329758.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(70-72)gaC>gaT		tripartite motif containing 49							23.0	22.0	22.0					11																	89537566		2186	4270	6456	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89537566G>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.72C>T	11.37:g.89537566G>A						TRIM49_ENST00000532501.2_Silent_p.D24D	p.D24D	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			3	400	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	24					A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.72C>T	CCDS8287.1																																																																																				0.468	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		49	327	0	0	0	1	0	49	327				
LRRC4B	94030	broad.mit.edu	37	19	51022052	51022052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51022052C>T	ENST00000599957.1	-	3	1115	c.918G>A	c.(916-918)gtG>gtA	p.V306V	LRRC4B_ENST00000389201.3_Silent_p.V306V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	306					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGTTGAGGTGCACGCGCTCGA	0.642																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(916-918)gtG>gtA		leucine rich repeat containing 4B							79.0	91.0	87.0					19																	51022052		2176	4265	6441	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022052C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.918G>A	19.37:g.51022052C>T						LRRC4B_ENST00000389201.3_Silent_p.V306V	p.V306V			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1115	-		all_neural(266;0.131)	306					Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.918G>A	CCDS42595.1																																																																																				0.642	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		103	380	0	0	0	1	0	103	380				
POLI	11201	broad.mit.edu	37	18	51807102	51807102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51807102C>T	ENST00000579534.1	+	5	768	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000579434.1_Missense_Mutation_p.R106W|POLI_ENST00000406285.3_Intron	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	209	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R184W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGCAGAGATGCGGGAAGCCAT	0.413								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			1	Substitution - Missense(1)	p.R184W(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(625-627)Cgg>Tgg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							175.0	173.0	174.0					18																	51807102		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51807102C>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.625C>T	18.37:g.51807102C>T	ENSP00000462664:p.Arg209Trp					POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000406285.3_Intron|POLI_ENST00000579434.1_Missense_Mutation_p.R106W	p.R209W	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	5	768	+			209			UmuC.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.625C>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256370	0.39896	.	.	ENSG00000101751	ENST00000217800	.	.	.	5.72	3.66	0.41972	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89414	0.3705	9	0.87932	D	0	-12.2842	11.161	0.48516	0.4562:0.5438:0.0:0.0	.	209	Q9UNA4	POLI_HUMAN	W	209	.	ENSP00000217800:R209W	R	+	1	2	POLI	50061100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.595000	0.54016	1.542000	0.49330	0.650000	0.86243	CGG		0.413	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		144	649	0	0	0	1	0	144	649				
PNPLA7	375775	broad.mit.edu	37	9	140416117	140416117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140416117G>T	ENST00000277531.4	-	9	1039	c.853C>A	c.(853-855)Ctc>Atc	p.L285I	PNPLA7_ENST00000406427.1_Missense_Mutation_p.L310I	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	285					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCAGGCCGAGGTAGTTGTGC	0.592																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(928-930)Ctc>Atc		patatin-like phospholipase domain containing 7							171.0	138.0	149.0					9																	140416117		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140416117G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.853C>A	9.37:g.140416117G>T	ENSP00000277531:p.Leu285Ile					PNPLA7_ENST00000277531.4_Missense_Mutation_p.L285I	p.L310I	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	10	1264	-	all_cancers(76;0.126)		285					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.928C>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563386	0.45694	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.76968	1.24;-1.04;-1.06;-1.01	4.75	1.35	0.21983	.	0.160277	0.42964	D	0.000622	D	0.86222	0.5881	M	0.83483	2.645	0.21822	N	0.999529	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.956	T	0.76838	-0.2811	10	0.87932	D	0	-18.4941	9.378	0.38295	0.2962:0.0:0.7038:0.0	.	16;310;285	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	I	16;285;310;285;276;310	ENSP00000360501:L16I;ENSP00000277531:L285I;ENSP00000384610:L310I;ENSP00000400582:L276I	ENSP00000277531:L285I	L	-	1	0	PNPLA7	139535938	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.341000	0.43983	0.422000	0.26005	0.313000	0.20887	CTC		0.592	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		28	347	1	0	1.16021e-09	1	1.22295e-09	28	347				
DCLRE1B	64858	broad.mit.edu	37	1	114454079	114454079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114454079C>A	ENST00000369563.3	+	4	1311	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	289					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCGCAGCACTGAAGCCTTG	0.577								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(865-867)Ctg>Atg	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							104.0	92.0	96.0					1																	114454079		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454079C>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.865C>A	1.37:g.114454079C>A	ENSP00000358576:p.Leu289Met					DCLRE1B_ENST00000466480.1_3'UTR	p.L289M	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1311	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	289					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.865C>A	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183116	0.78677	.	.	ENSG00000118655	ENST00000369563	T	0.52295	0.67	6.02	5.11	0.69529	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.81614	2.55	0.53005	D	0.999962	D	0.89917	1.0	D	0.79784	0.993	T	0.68622	-0.5360	10	0.62326	D	0.03	-15.6402	13.2133	0.59839	0.0:0.8685:0.0:0.1315	.	289	Q9H816	DCR1B_HUMAN	M	289	ENSP00000358576:L289M	ENSP00000358576:L289M	L	+	1	2	DCLRE1B	114255602	0.998000	0.40836	0.810000	0.32431	0.985000	0.73830	3.968000	0.56809	1.572000	0.49736	0.655000	0.94253	CTG		0.577	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		16	337	1	0	4.7546e-09	1	4.99022e-09	16	337				
TLDC2	140711	broad.mit.edu	37	20	35504596	35504596	+	Missense_Mutation	SNP	C	C	T	rs561508295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35504596C>T	ENST00000217320.3	+	1	63	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	TLDC2_ENST00000602922.1_Missense_Mutation_p.R7C	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	7																	CCTCCGCTGGCGTTACACTCG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21157	0.0		0.0	False		,,,				2504	0.0					ENST00000217320.3																			0											c.(19-21)Cgt>Tgt		TBC/LysM-associated domain containing 2							145.0	140.0	142.0					20																	35504596		2203	4300	6503	SO:0001583	missense	140711							g.chr20:35504596C>T	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.19C>T	20.37:g.35504596C>T	ENSP00000217320:p.Arg7Cys					TLDC2_ENST00000602922.1_Missense_Mutation_p.R7C	p.R7C	NM_080628.1	NP_542195.1					1	63	+								B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	c.19C>T	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478511	0.63849	.	.	ENSG00000101342	ENST00000217320	T	0.33654	1.4	4.38	4.38	0.52667	.	0.591399	0.15017	N	0.285194	T	0.50188	0.1601	L	0.51422	1.61	0.44432	D	0.997352	D	0.89917	1.0	P	0.61722	0.893	T	0.50021	-0.8876	10	0.87932	D	0	-10.5235	12.6137	0.56565	0.0:1.0:0.0:0.0	.	7	A0PJX2	CT118_HUMAN	C	7	ENSP00000217320:R7C	ENSP00000217320:R7C	R	+	1	0	C20orf118	34938010	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	3.138000	0.50570	2.440000	0.82611	0.561000	0.74099	CGT		0.632	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		119	569	0	0	0	1	0	119	569				
ANK3	288	broad.mit.edu	37	10	61832967	61832967	+	Missense_Mutation	SNP	G	G	A	rs375600068		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61832967G>A	ENST00000280772.2	-	37	7863	c.7672C>T	c.(7672-7674)Cgc>Tgc	p.R2558C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2558					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAGTAAAGCGCATCCACATG	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19757	0.0		0.0	False		,,,				2504	0.0					ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(7672-7674)Cgc>Tgc		ankyrin 3, node of Ranvier (ankyrin G)		G	,,,CYS/ARG	0,4406		0,0,2203	151.0	139.0	143.0		,,,7672	5.5	1.0	10		143	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,possibly-damaging	,,,2558/4378	61832967	1,13005	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832967G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7672C>T	10.37:g.61832967G>A	ENSP00000280772:p.Arg2558Cys					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.R2558C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	7863	-			2558					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.7672C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036538	0.54896	0.0	1.16E-4	ENSG00000151150	ENST00000280772	T	0.70164	-0.46	5.47	5.47	0.80525	.	0.258119	0.23413	N	0.048452	T	0.69860	0.3158	L	0.55481	1.735	0.80722	D	1	D	0.61697	0.99	P	0.46885	0.53	T	0.74309	-0.3707	10	0.72032	D	0.01	.	19.3349	0.94312	0.0:0.0:1.0:0.0	.	2558	Q12955	ANK3_HUMAN	C	2558	ENSP00000280772:R2558C	ENSP00000280772:R2558C	R	-	1	0	ANK3	61502973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.564000	0.86499	0.462000	0.41574	CGC		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		122	577	0	0	0	1	0	122	577				
USH2A	7399	broad.mit.edu	37	1	215848163	215848163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215848163G>A	ENST00000307340.3	-	63	13476	c.13090C>T	c.(13090-13092)Ctt>Ttt	p.L4364F	USH2A_ENST00000366943.2_Missense_Mutation_p.L4364F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4364	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGGCCCAAAGATCTGGAGGG	0.473										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13090-13092)Ctt>Ttt		Usher syndrome 2A (autosomal recessive, mild)							54.0	55.0	55.0					1																	215848163		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848163G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13090C>T	1.37:g.215848163G>A	ENSP00000305941:p.Leu4364Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.L4364F	p.L4364F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13476	-			4364			Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13090C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353439	0.41700	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56103	0.48;0.48	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.205043	0.23971	U	0.042762	T	0.60104	0.2243	L	0.55990	1.75	0.09310	N	0.999996	D	0.55385	0.971	P	0.62298	0.9	T	0.51865	-0.8651	10	0.22706	T	0.39	.	8.7583	0.34658	0.0795:0.1522:0.7683:0.0	.	4364	O75445	USH2A_HUMAN	F	4364	ENSP00000305941:L4364F;ENSP00000355910:L4364F	ENSP00000305941:L4364F	L	-	1	0	USH2A	213914786	0.956000	0.32656	0.016000	0.15963	0.471000	0.32888	2.023000	0.41040	2.384000	0.81235	0.467000	0.42956	CTT		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		74	275	0	0	0	1	0	74	275				
OR13F1	138805	broad.mit.edu	37	9	107266825	107266825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107266825C>A	ENST00000334726.2	+	1	371	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	94			F -> S (in dbSNP:rs7018553).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTATTTCATTCTCAGGGTGCG	0.517																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(280-282)ttC>ttA		olfactory receptor, family 13, subfamily F, member 1							115.0	103.0	107.0					9																	107266825		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266825C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.282C>A	9.37:g.107266825C>A	ENSP00000334452:p.Phe94Leu						p.F94L	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	371	+			94		F -> S (in dbSNP:rs7018553).			Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.282C>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965343	0.34659	.	.	ENSG00000186881	ENST00000334726	T	0.00327	8.09	4.26	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00271	0.0008	M	0.64404	1.975	0.24525	N	0.994144	B	0.33022	0.394	B	0.33521	0.165	T	0.40251	-0.9573	10	0.66056	D	0.02	.	3.8682	0.09025	0.1898:0.6118:0.0:0.1984	.	94	Q8NGS4	O13F1_HUMAN	L	94	ENSP00000334452:F94L	ENSP00000334452:F94L	F	+	3	2	OR13F1	106306646	0.000000	0.05858	0.991000	0.47740	0.778000	0.44026	-0.041000	0.12084	0.759000	0.33084	-0.145000	0.13849	TTC		0.517	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			79	382	1	0	1.30681e-28	1	1.52204e-28	79	382				
CPEB2	132864	broad.mit.edu	37	4	15060083	15060083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15060083C>T	ENST00000507071.1	+	8	1252	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q834*|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	389	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAGCTCAGTTCAGGCACTCAT	0.378																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2500-2502)Cag>Tag		cytoplasmic polyadenylation element binding protein 2							150.0	151.0	151.0					4																	15060083		2203	4300	6503	SO:0001587	stop_gained	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15060083C>T	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1165C>T	4.37:g.15060083C>T	ENSP00000424084:p.Gln389*					CPEB2_ENST00000507071.1_Nonsense_Mutation_p.Q389*|CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*	p.Q834*	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			9	2500	+			389					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Nonsense_Mutation	SNP	ENST00000507071.1	37	c.2500C>T		.	.	.	.	.	.	.	.	.	.	C	38	7.145599	0.98092	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.228	19.9533	0.97211	0.0:1.0:0.0:0.0	.	.	.	.	X	834;826;807;389;359;367;362;397;376;42	.	ENSP00000259997:Q397X	Q	+	1	0	CPEB2	14669181	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.725000	0.93324	0.585000	0.79938	CAG		0.378	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		51	281	0	0	0	1	0	51	281				
DKK4	27121	broad.mit.edu	37	8	42233345	42233345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42233345A>G	ENST00000220812.2	-	2	301	c.115T>C	c.(115-117)Tca>Cca	p.S39P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	39					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGGCACTGTGAGCCCTGTGGA	0.547																																						ENST00000220812.2																			0				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(115-117)Tca>Cca		dickkopf WNT signaling pathway inhibitor 4							72.0	61.0	65.0					8																	42233345		2203	4300	6503	SO:0001583	missense	27121				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr8:42233345A>G	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.115T>C	8.37:g.42233345A>G	ENSP00000220812:p.Ser39Pro						p.S39P	NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		2	301	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	39					Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	c.115T>C	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483972	0.26598	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.32023	1.47	5.03	1.19	0.21007	.	0.143817	0.32430	N	0.006120	T	0.20047	0.0482	L	0.34521	1.04	0.21473	N	0.999677	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.40728	T	0.16	-7.6035	8.0519	0.30583	0.7474:0.0:0.2526:0.0	.	39	Q9UBT3	DKK4_HUMAN	P	39	ENSP00000220812:S39P	ENSP00000220812:S39P	S	-	1	0	DKK4	42352502	0.596000	0.26866	0.774000	0.31636	0.596000	0.36781	1.928000	0.40104	0.023000	0.15187	0.260000	0.18958	TCA		0.547	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1			27	105	0	0	0	1	0	27	105				
DCN	1634	broad.mit.edu	37	12	91545540	91545540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91545540G>T	ENST00000052754.5	-	7	1277	c.776C>A	c.(775-777)gCt>gAt	p.A259D	DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000228329.5_Missense_Mutation_p.A150D|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000552962.1_Missense_Mutation_p.A259D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	259					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATTGTCAACAGCAGAGATGCT	0.473																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(775-777)gCt>gAt		decorin							120.0	96.0	104.0					12																	91545540		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91545540G>T	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.776C>A	12.37:g.91545540G>T	ENSP00000052754:p.Ala259Asp					DCN_ENST00000552962.1_Missense_Mutation_p.A259D|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000228329.5_Missense_Mutation_p.A150D	p.A259D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			7	1277	-			259					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.776C>A	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.542|0.542	-0.853349|-0.853349	0.02630|0.02630	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	5.58|5.58	0.558|0.558	0.17266|0.17266	.|.	0.841391|.	0.11300|.	N|.	0.578333|.	T|.	0.21718|.	0.0523|.	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30889|.	0.0;0.0;0.299|.	B;B;B|.	0.23852|.	0.001;0.001;0.049|.	T|.	0.28459|.	-1.0043|.	10|.	0.02654|.	T|.	1|.	.|.	8.2526|8.2526	0.31735|0.31735	0.324:0.1011:0.5748:0.0|0.324:0.1011:0.5748:0.0	.|.	259;112;150|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	D|X	259;150;259;112;259;150;112;112|28	ENSP00000052754:A259D;ENSP00000228329:A150D;ENSP00000376862:A259D;ENSP00000401021:A112D;ENSP00000447654:A259D;ENSP00000413723:A150D;ENSP00000447674:A112D;ENSP00000446530:A112D|.	ENSP00000052754:A259D|.	A|C	-|-	2|3	0|2	DCN|DCN	90069671|90069671	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.291000|0.291000	0.27294|0.27294	0.596000|0.596000	0.24044|0.24044	-0.309000|-0.309000	0.08779|0.08779	-1.094000|-1.094000	0.02160|0.02160	GCT|TGC		0.473	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		11	151	1	0	6.42651e-13	1	6.92124e-13	11	151				
MFAP4	4239	broad.mit.edu	37	17	19287868	19287868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19287868G>A	ENST00000299610.4	-	6	759	c.675C>T	c.(673-675)tcC>tcT	p.S225S	MFAP4_ENST00000497081.2_Silent_p.S250S|MFAP4_ENST00000395592.2_Silent_p.S249S|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	225	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGAGAGGTGGGAGCCACCTA	0.567																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(745-747)tcC>tcT		microfibrillar-associated protein 4							45.0	45.0	45.0					17																	19287868		2203	4300	6503	SO:0001819	synonymous_variant	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19287868G>A	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.675C>T	17.37:g.19287868G>A						MFAP4_ENST00000497081.2_Silent_p.S250S|MFAP4_ENST00000299610.4_Silent_p.S225S	p.S249S	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			6	818	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		225			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Silent	SNP	ENST00000299610.4	37	c.747C>T	CCDS11208.1																																																																																				0.567	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		34	134	0	0	0	1	0	34	134				
PRPF3	9129	broad.mit.edu	37	1	150312898	150312898	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150312898A>C	ENST00000324862.6	+	9	1392	c.1227A>C	c.(1225-1227)gaA>gaC	p.E409D	PRPF3_ENST00000543398.1_Silent_p.R273R|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	409					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCAAGAGAGAAGATTATTTTG	0.388																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1225-1227)gaA>gaC		pre-mRNA processing factor 3							80.0	75.0	77.0					1																	150312898		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150312898A>C	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1227A>C	1.37:g.150312898A>C	ENSP00000315379:p.Glu409Asp					PRPF3_ENST00000543398.1_Silent_p.R273R|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D	p.E409D	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	9	1392	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		409					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1227A>C	CCDS951.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.411230	0.25465	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	D;D	0.85411	-1.98;-1.98	5.67	3.4	0.38934	Pre-mRNA-splicing factor 3 (1);	0.097540	0.64402	D	0.000001	T	0.62024	0.2394	L	0.34521	1.04	0.80722	D	1	B;B	0.15719	0.014;0.005	B;B	0.20184	0.028;0.016	T	0.61628	-0.7024	10	0.30078	T	0.28	-16.2751	5.3519	0.16040	0.7292:0.0:0.1264:0.1444	.	360;409	E7EVD1;O43395	.;PRPF3_HUMAN	D	409;360	ENSP00000315379:E409D;ENSP00000387844:E360D	ENSP00000315379:E409D	E	+	3	2	PRPF3	148579522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.714000	0.25808	2.164000	0.68074	0.454000	0.30748	GAA		0.388	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		44	248	0	0	0	1	0	44	248				
CDH9	1007	broad.mit.edu	37	5	26915978	26915978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26915978C>T	ENST00000231021.4	-	3	455	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAGCCCCATCTCCTGTTAGT	0.353																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(283-285)Gat>Aat		cadherin 9, type 2 (T1-cadherin)							102.0	104.0	103.0					5																	26915978		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915978C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.283G>A	5.37:g.26915978C>T	ENSP00000231021:p.Asp95Asn						p.D95N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			3	455	-			95			Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.283G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914844	0.92178	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.60920	0.15;0.67	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.101514	0.64402	D	0.000003	T	0.72946	0.3524	M	0.63169	1.94	0.58432	D	0.999994	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.891	T	0.73392	-0.3997	9	.	.	.	.	16.4099	0.83704	0.0:1.0:0.0:0.0	.	95;95	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	95	ENSP00000231021:D95N;ENSP00000426239:D95N	.	D	-	1	0	CDH9	26951735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.361000	0.79497	2.275000	0.75901	0.585000	0.79938	GAT		0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		96	548	0	0	0	1	0	96	548				
FAM151A	338094	broad.mit.edu	37	1	55075382	55075382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55075382C>T	ENST00000302250.2	-	8	1477	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	439						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCACACAGGCCAATGCAAGA	0.637																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1315-1317)tgG>tgA		family with sequence similarity 151, member A							37.0	40.0	39.0					1																	55075382		2203	4300	6503	SO:0001587	stop_gained	338094					integral to membrane		g.chr1:55075382C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1317G>A	1.37:g.55075382C>T	ENSP00000306888:p.Trp439*					ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron	p.W439*	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			8	1477	-			439					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Nonsense_Mutation	SNP	ENST00000302250.2	37	c.1317G>A	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643285	0.67244	.	.	ENSG00000162391	ENST00000302250	.	.	.	4.17	0.174	0.15040	.	0.890365	0.09587	N	0.782015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.8283	0.8298	0.01128	0.166:0.3896:0.1617:0.2827	.	.	.	.	X	439	.	ENSP00000306888:W439X	W	-	3	0	FAM151A	54847970	0.018000	0.18449	0.195000	0.23364	0.279000	0.26890	-0.118000	0.10692	0.040000	0.15660	-0.137000	0.14449	TGG		0.637	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		50	215	0	0	0	1	0	50	215				
ESPL1	9700	broad.mit.edu	37	12	53680262	53680262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53680262C>T	ENST00000257934.4	+	18	3833	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1248					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGGTTCTACAGTCAGGGCT	0.557																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(3742-3744)Cag>Tag		extra spindle pole bodies homolog 1 (S. cerevisiae)							105.0	113.0	110.0					12																	53680262		2203	4300	6503	SO:0001587	stop_gained	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680262C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3742C>T	12.37:g.53680262C>T	ENSP00000257934:p.Gln1248*					ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	p.Q1248*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			18	3833	+			1248						Nonsense_Mutation	SNP	ENST00000257934.4	37	c.3742C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921299	0.97936	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.06	3.23	0.37069	.	0.202468	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.1702	0.54155	0.0:0.3313:0.6686:0.0	.	.	.	.	X	1248;923;1248	.	ENSP00000257934:Q1248X	Q	+	1	0	ESPL1	51966529	0.963000	0.33076	0.335000	0.25508	0.198000	0.23893	2.103000	0.41806	0.835000	0.34877	-0.228000	0.12330	CAG		0.557	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		135	601	0	0	0	1	0	135	601				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	A	rs375936006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33520392G>A	ENST00000297307.5	-	1	1020	c.935C>T	c.(934-936)gCg>gTg	p.A312V	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gTg		solute carrier family 35, member G3		C	VAL/ALA	2,4404		0,2,2201	142.0	127.0	132.0		935		0.0	17		132	0,8600		0,0,4300	no	missense	SLC35G3	NM_152462.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	312/339	33520392	2,13004	2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>T	17.37:g.33520392G>A	ENSP00000297307:p.Ala312Val						p.A312V	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100775	0.56183	4.54E-4	0.0	ENSG00000164729	ENST00000297307	T	0.72394	-0.65	.	.	.	.	0.000000	0.45126	D	0.000398	T	0.38268	0.1034	N	0.08118	0	0.18873	N	0.999987	B	0.18968	0.032	B	0.22601	0.04	T	0.17501	-1.0367	8	0.87932	D	0	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	V	312	ENSP00000297307:A312V	ENSP00000297307:A312V	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		123	576	0	0	0	1	0	123	576				
CTSV	1515	broad.mit.edu	37	9	99799558	99799558	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99799558G>T	ENST00000259470.5	-	4	621	c.372C>A	c.(370-372)ggC>ggA	p.G124G	CTSV_ENST00000538255.1_Silent_p.G124G|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										GCGTCACGTAGCCTTTCTTTC	0.478																																						ENST00000259470.5																			0											c.(370-372)ggC>ggA		cathepsin V							73.0	66.0	68.0					9																	99799558		2203	4300	6503	SO:0001819	synonymous_variant	1515							g.chr9:99799558G>T	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.372C>A	9.37:g.99799558G>T						CTSV_ENST00000538255.1_Silent_p.G124G	p.G124G	NM_001333.3	NP_001324.2					4	621	-								O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	c.372C>A	CCDS6723.1																																																																																				0.478	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		10	226	1	0	7.48243e-07	1	7.73841e-07	10	226				
CDH6	1004	broad.mit.edu	37	5	31297423	31297423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31297423C>T	ENST00000265071.2	+	4	816	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCACTGCGACGGATGCAGAT	0.393																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(550-552)aCg>aTg		cadherin 6, type 2, K-cadherin (fetal kidney)							165.0	154.0	157.0					5																	31297423		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31297423C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.551C>T	5.37:g.31297423C>T	ENSP00000265071:p.Thr184Met					CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	p.T184M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			4	816	+			184			Cadherin 2.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.551C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167083	0.38217	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	Cadherin (5);Cadherin-like (1);	0.146577	0.64402	D	0.000009	T	0.68165	0.2971	M	0.72576	2.205	0.44918	D	0.997935	D;D	0.69078	0.983;0.997	P;P	0.60541	0.799;0.876	T	0.70883	-0.4751	10	0.72032	D	0.01	.	14.5454	0.68027	0.1463:0.8537:0.0:0.0	.	184;184	P55285;P55285-2	CADH6_HUMAN;.	M	129;184	ENSP00000424843:T129M;ENSP00000265071:T184M	ENSP00000265071:T184M	T	+	2	0	CDH6	31333180	0.896000	0.30565	0.495000	0.27527	0.070000	0.16714	1.892000	0.39748	2.749000	0.94314	0.655000	0.94253	ACG		0.393	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		73	378	0	0	0	1	0	73	378				
GPR98	84059	broad.mit.edu	37	5	90041501	90041501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90041501C>T	ENST00000405460.2	+	52	10959	c.10863C>T	c.(10861-10863)ttC>ttT	p.F3621F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3621	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAATCCTTCAAAGTTCAAC	0.363																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10861-10863)ttC>ttT		G protein-coupled receptor 98							90.0	83.0	85.0					5																	90041501		1831	4090	5921	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90041501C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10863C>T	5.37:g.90041501C>T							p.F3621F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	52	10959	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3621			Calx-beta 23.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.10863C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.373	1.071033	0.20147	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.59	4.73	0.59995	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61004	-0.7150	4	.	.	.	.	11.0436	0.47846	0.0:0.8049:0.0:0.1951	.	.	.	.	L	1187	.	.	S	+	2	0	GPR98	90077257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.989000	0.40707	1.377000	0.46286	0.563000	0.77884	TCA		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		23	178	0	0	0	1	0	23	178				
CREB3L1	90993	broad.mit.edu	37	11	46341984	46341984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46341984C>T	ENST00000529193.1	+	11	1879	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	CREB3L1_ENST00000288400.3_Silent_p.H476H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	476					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACAGCACCCACGAGACCACCA	0.652			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(1426-1428)caC>caT		cAMP responsive element binding protein 3-like 1							32.0	42.0	39.0					11																	46341984		2109	4213	6322	SO:0001819	synonymous_variant	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46341984C>T		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1428C>T	11.37:g.46341984C>T						CREB3L1_ENST00000288400.3_Silent_p.H476H	p.H476H			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	11	1879	+			476					Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	c.1428C>T	CCDS53620.1																																																																																				0.652	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		22	76	0	0	0	1	0	22	76				
LRRK1	79705	broad.mit.edu	37	15	101552339	101552339	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101552339T>C	ENST00000388948.3	+	10	1767	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	LRRK1_ENST00000284395.5_Missense_Mutation_p.F467L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTGGGACTTTTCCAGCTTGA	0.433																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(1399-1401)Ttc>Ctc		leucine-rich repeat kinase 1							127.0	126.0	126.0					15																	101552339		1833	4092	5925	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101552339T>C	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1408T>C	15.37:g.101552339T>C	ENSP00000373600:p.Phe470Leu					LRRK1_ENST00000388948.3_Missense_Mutation_p.F470L	p.F467L			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		11	1799	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		470						Missense_Mutation	SNP	ENST00000388948.3	37	c.1399T>C	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	8.860	0.946632	0.18356	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.67698	-0.28;-0.28	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.39397	1.21	0.54753	D	0.99998	B	0.15141	0.012	B	0.14578	0.011	T	0.51849	-0.8653	10	0.11182	T	0.66	.	14.5142	0.67809	0.0:0.0:0.0:1.0	.	470	Q38SD2	LRRK1_HUMAN	L	470;467	ENSP00000373600:F470L;ENSP00000284395:F467L	ENSP00000284395:F467L	F	+	1	0	LRRK1	99369862	1.000000	0.71417	0.472000	0.27241	0.373000	0.29922	7.158000	0.77470	2.008000	0.58898	0.528000	0.53228	TTC		0.433	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		113	548	0	0	0	1	0	113	548				
TTC30A	92104	broad.mit.edu	37	2	178482197	178482197	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178482197C>A	ENST00000355689.5	-	1	1497	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	411					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATTCACTGCCTTTTTGATAG	0.428																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1231-1233)aaG>aaT		tetratricopeptide repeat domain 30A							238.0	240.0	239.0					2																	178482197		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482197C>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1233G>T	2.37:g.178482197C>A	ENSP00000347915:p.Lys411Asn					AC073834.3_ENST00000357045.4_RNA	p.K411N	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1497	-			411					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1233G>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241587	0.10077	.	.	ENSG00000197557	ENST00000355689	T	0.38722	1.12	5.91	0.404	0.16355	Tetratricopeptide-like helical (1);	0.042836	0.85682	D	0.000000	T	0.44540	0.1298	M	0.70275	2.135	0.48571	D	0.999674	P	0.52842	0.956	P	0.50754	0.649	T	0.26710	-1.0095	10	0.38643	T	0.18	.	5.8059	0.18440	0.121:0.4448:0.0:0.4342	.	411	Q86WT1	TT30A_HUMAN	N	411	ENSP00000347915:K411N	ENSP00000347915:K411N	K	-	3	2	TTC30A	178190443	0.995000	0.38212	0.418000	0.26571	0.130000	0.20726	0.333000	0.19768	-0.209000	0.10156	-0.194000	0.12790	AAG		0.428	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		245	914	1	0	2.90217e-92	1	3.72755e-92	245	914				
C5orf51	285636	broad.mit.edu	37	5	41912217	41912217	+	Missense_Mutation	SNP	G	G	A	rs370411797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41912217G>A	ENST00000381647.2	+	5	552	c.533G>A	c.(532-534)cGa>cAa	p.R178Q		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	178										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTAAATTATCGATGTCCTATC	0.328																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(532-534)cGa>cAa		chromosome 5 open reading frame 51		G	GLN/ARG	0,4406		0,0,2203	172.0	173.0	173.0		533	5.8	1.0	5		173	1,8595	1.2+/-3.3	0,1,4297	no	missense	C5orf51	NM_175921.4	43	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	178/295	41912217	1,13001	2203	4298	6501	SO:0001583	missense	285636							g.chr5:41912217G>A	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.533G>A	5.37:g.41912217G>A	ENSP00000371061:p.Arg178Gln						p.R178Q	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			5	552	+			178					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.533G>A	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522614	0.96431	0.0	1.16E-4	ENSG00000205765	ENST00000381647	D	0.82526	-1.62	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.34521	1.04	0.54753	D	0.99998	D	0.89917	1.0	D	0.85130	0.997	D	0.88372	0.2995	10	0.87932	D	0	-18.7221	18.3385	0.90297	0.0:0.0:1.0:0.0	.	178	A6NDU8	CE051_HUMAN	Q	178	ENSP00000371061:R178Q	ENSP00000371061:R178Q	R	+	2	0	C5orf51	41947974	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	7.713000	0.84693	2.767000	0.95098	0.555000	0.69702	CGA		0.328	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		104	498	0	0	0	1	0	104	498				
AMOTL1	154810	broad.mit.edu	37	11	94533141	94533141	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94533141G>T	ENST00000433060.2	+	3	926	c.785G>T	c.(784-786)aGc>aTc	p.S262I	AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	262					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CGCTCGCTCAGCGAGAGAATC	0.622																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(784-786)aGc>aTc		angiomotin like 1							41.0	46.0	44.0					11																	94533141		2031	4186	6217	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533141G>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.785G>T	11.37:g.94533141G>T	ENSP00000387739:p.Ser262Ile					AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I	p.S262I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			3	926	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	262					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.785G>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839201	0.71373	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.19938	2.11;2.11;2.11	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.56123	-0.8031	9	.	.	.	-15.7647	18.5608	0.91100	0.0:0.0:1.0:0.0	.	212;262	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	I	212;268;262;262	ENSP00000320968:S212I;ENSP00000323474:S262I;ENSP00000387739:S262I	.	S	+	2	0	AMOTL1	94172789	1.000000	0.71417	0.938000	0.37757	0.941000	0.58515	9.625000	0.98406	2.395000	0.81488	0.555000	0.69702	AGC		0.622	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		62	279	1	0	1.61742e-36	1	1.93684e-36	62	279				
AGXT	189	broad.mit.edu	37	2	241814608	241814608	+	Missense_Mutation	SNP	G	G	A	rs547633289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241814608G>A	ENST00000307503.3	+	7	1150	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	255					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GGGCTGTGACGACCAGCCCAG	0.602																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(763-765)Gac>Aac		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						67.0	63.0	64.0					2																	241814608		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241814608G>A	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.763G>A	2.37:g.241814608G>A	ENSP00000302620:p.Asp255Asn						p.D255N	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	7	1150	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	255					Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.763G>A	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296783	0.23650	.	.	ENSG00000172482	ENST00000307503	D	0.87809	-2.3	3.79	2.61	0.31194	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.360637	0.30260	N	0.010038	T	0.78444	0.4284	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.68450	-0.5405	10	0.40728	T	0.16	-15.842	11.0699	0.47997	0.1204:0.0:0.8796:0.0	.	255	P21549	SPYA_HUMAN	N	255	ENSP00000302620:D255N	ENSP00000302620:D255N	D	+	1	0	AGXT	241463281	0.714000	0.27936	0.291000	0.24904	0.339000	0.28857	3.413000	0.52686	1.674000	0.50907	0.639000	0.83563	GAC		0.602	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		14	354	0	0	0	1	0	14	354				
TRIO	7204	broad.mit.edu	37	5	14387901	14387901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14387901C>T	ENST00000344204.4	+	23	3850	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1276					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGAAACTTCGAGATGCTGC	0.433																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3826-3828)Cga>Tga		trio Rho guanine nucleotide exchange factor							71.0	75.0	74.0					5																	14387901		2203	4300	6503	SO:0001587	stop_gained	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14387901C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3826C>T	5.37:g.14387901C>T	ENSP00000339299:p.Arg1276*					TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*	p.R1276*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			23	3850	+	Lung NSC(4;0.000742)		1276					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	c.3826C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	43	10.396506	0.99397	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9732	0.97292	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1276;1227;963	.	ENSP00000339299:R1276X	R	+	1	2	TRIO	14440901	0.999000	0.42202	0.947000	0.38551	0.998000	0.95712	2.755000	0.47540	2.740000	0.93945	0.650000	0.86243	CGA		0.433	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		49	179	0	0	0	1	0	49	179				
ZNF613	79898	broad.mit.edu	37	19	52447542	52447542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52447542C>T	ENST00000293471.6	+	6	1085	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	ZNF613_ENST00000391794.4_Silent_p.L100L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGGGAAAATACTGAAATCAAA	0.343																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(406-408)Ctg>Ttg		zinc finger protein 613							68.0	67.0	67.0					19																	52447542		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447542C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.406C>T	19.37:g.52447542C>T						ZNF613_ENST00000391794.4_Silent_p.L100L	p.L136L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1085	+		all_neural(266;0.117)	136					Q96SS9	Silent	SNP	ENST00000293471.6	37	c.406C>T	CCDS33089.1																																																																																				0.343	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		9	286	0	0	0	1	0	9	286				
RNF216	54476	broad.mit.edu	37	7	5754711	5754711	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5754711G>T	ENST00000425013.2	-	11	1859	c.1635C>A	c.(1633-1635)gcC>gcA	p.A545A	RNF216_ENST00000389902.3_Silent_p.A602A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	545					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTGCCTCTTGGGCATATCTGA	0.458																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(1633-1635)gcC>gcA		ring finger protein 216							168.0	154.0	159.0					7																	5754711		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5754711G>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1635C>A	7.37:g.5754711G>T						RNF216_ENST00000389902.3_Silent_p.A602A	p.A545A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	11	1859	-		Ovarian(82;0.07)	545					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.1635C>A	CCDS34595.1																																																																																				0.458	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		38	787	1	0	9.73076e-26	1	1.11809e-25	38	787				
SLC39A4	55630	broad.mit.edu	37	8	145638654	145638654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145638654C>T	ENST00000301305.3	-	10	1699	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	SLC39A4_ENST00000276833.5_Missense_Mutation_p.A507T|SLC39A4_ENST00000531013.1_5'UTR	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	532					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGAACACGGCCAGCGAGGTG	0.711																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1519-1521)Gcc>Acc		solute carrier family 39 (zinc transporter), member 4							8.0	11.0	10.0					8																	145638654		2159	4234	6393	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145638654C>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1594G>A	8.37:g.145638654C>T	ENSP00000301305:p.Ala532Thr					SLC39A4_ENST00000301305.3_Missense_Mutation_p.A532T|SLC39A4_ENST00000531013.1_5'UTR	p.A507T	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		9	1822	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		532					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.1519G>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	37	6.018510	0.97205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.68331	-0.32;-0.32	4.62	4.62	0.57501	.	0.053289	0.85682	D	0.000000	T	0.79919	0.4529	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.82608	-0.0373	10	0.87932	D	0	-24.9186	14.9999	0.71464	0.0:1.0:0.0:0.0	.	532;507;532	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	T	507;532	ENSP00000276833:A507T;ENSP00000301305:A532T	ENSP00000276833:A507T	A	-	1	0	SLC39A4	145609462	1.000000	0.71417	0.992000	0.48379	0.872000	0.50106	5.674000	0.68117	2.126000	0.65437	0.456000	0.33151	GCC		0.711	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			9	58	0	0	0	1	0	9	58				
CDRT1	374286	broad.mit.edu	37	17	15522551	15522551	+	Silent	SNP	G	G	A	rs535994502	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15522551G>A	ENST00000395906.3	-	1	275	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	92										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TGCTGAGGTCGATCCGGGACC	0.388													G|||	3	0.000599042	0.0	0.0	5008	,	,		21927	0.0		0.0	False		,,,				2504	0.0031					ENST00000395906.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(274-276)atC>atT		CMT1A duplicated region transcript 1							133.0	136.0	135.0					17																	15522551		2202	4298	6500	SO:0001819	synonymous_variant	374286							g.chr17:15522551G>A	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.276C>T	17.37:g.15522551G>A						RP11-385D13.1_ENST00000455584.2_Intron	p.I92I	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	1	275	-			92					O43848|O95611	Silent	SNP	ENST00000395906.3	37	c.276C>T	CCDS45619.1																																																																																				0.388	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		129	651	0	0	0	1	0	129	651				
UBE3A	7337	broad.mit.edu	37	15	25605662	25605662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25605662C>T	ENST00000397954.2	-	5	1629	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|UBE3A_ENST00000232165.3_Missense_Mutation_p.A541T			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	544					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTTCCATAGCGATCATCTCT	0.353																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1621-1623)Gct>Act		ubiquitin protein ligase E3A							72.0	65.0	68.0					15																	25605662		2202	4300	6502	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25605662C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1630G>A	15.37:g.25605662C>T	ENSP00000381045:p.Ala544Thr					UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.A544T	p.A541T	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	7	2277	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	544					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1621G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317246	0.81469	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.4	5.4	0.78164	HECT (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	L	0.51853	1.615	0.80722	D	1	D;D	0.67145	0.986;0.996	B;B	0.39738	0.288;0.308	D	0.85027	0.0915	10	0.40728	T	0.16	.	19.1816	0.93625	0.0:1.0:0.0:0.0	.	541;544	Q05086-3;Q05086	.;UBE3A_HUMAN	T	541;541;544;521;521	ENSP00000232165:A541T;ENSP00000381045:A544T;ENSP00000411258:A521T;ENSP00000401265:A521T	ENSP00000232165:A541T	A	-	1	0	UBE3A	23156755	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.927000	0.63440	2.510000	0.84645	0.655000	0.94253	GCT		0.353	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		31	150	0	0	0	1	0	31	150				
OR7G3	390883	broad.mit.edu	37	19	9237060	9237060	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9237060A>G	ENST00000305444.2	-	1	566	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACATCAGAACAGGCGAGCT	0.458																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(565-567)tgT>tgC		olfactory receptor, family 7, subfamily G, member 3							73.0	71.0	71.0					19																	9237060		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237060A>G		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.567T>C	19.37:g.9237060A>G							p.C189C	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	566	-			189					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.567T>C	CCDS32899.1																																																																																				0.458	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			70	270	0	0	0	1	0	70	270				
FNIP2	57600	broad.mit.edu	37	4	159790058	159790058	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159790058T>C	ENST00000264433.6	+	13	2345	c.2270T>C	c.(2269-2271)gTg>gCg	p.V757A	FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	757	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCTGATGTGGCTCAGGAC	0.537																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2269-2271)gTg>gCg		folliculin interacting protein 2							47.0	52.0	51.0					4																	159790058		1934	4141	6075	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790058T>C	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2270T>C	4.37:g.159790058T>C	ENSP00000264433:p.Val757Ala					FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	p.V757A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2345	+	all_hematologic(180;0.24)		757			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.2270T>C	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	T	0.493	-0.874454	0.02550	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.21031	2.04;2.03	5.13	-9.77	0.00500	.	3.600100	0.00424	N	0.000068	T	0.09069	0.0224	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	9	.	.	.	.	2.5952	0.04852	0.1927:0.3673:0.0982:0.3418	.	757	Q9P278	FNIP2_HUMAN	A	757;780	ENSP00000264433:V757A;ENSP00000368651:V780A	.	V	+	2	0	FNIP2	160009508	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.317000	0.01122	-2.063000	0.00890	-2.451000	0.00208	GTG		0.537	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		71	337	0	0	0	1	0	71	337				
PI15	51050	broad.mit.edu	37	8	75756308	75756308	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75756308C>T	ENST00000260113.2	+	3	545	c.366C>T	c.(364-366)ggC>ggT	p.G122G	PI15_ENST00000523773.1_Silent_p.G122G|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	122	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GATTTTTGGGCCAAAATCTAT	0.438																																						ENST00000260113.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(364-366)ggC>ggT		peptidase inhibitor 15							161.0	158.0	159.0					8																	75756308		2203	4300	6503	SO:0001819	synonymous_variant	51050					extracellular region	peptidase inhibitor activity	g.chr8:75756308C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.366C>T	8.37:g.75756308C>T						PI15_ENST00000523773.1_Silent_p.G122G|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	p.G122G	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		3	545	+	Breast(64;0.137)		122					Q68CY1	Silent	SNP	ENST00000260113.2	37	c.366C>T	CCDS6218.1																																																																																				0.438	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		146	807	0	0	0	1	0	146	807				
SUV39H2	79723	broad.mit.edu	37	10	14939493	14939493	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939493T>G	ENST00000354919.6	+	3	826	c.826T>G	c.(826-828)Ttt>Gtt	p.F276V	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.F216V|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	276	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AAGAATGAGTTTTGTCATGGA	0.373																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(646-648)Ttt>Gtt		suppressor of variegation 3-9 homolog 2 (Drosophila)							70.0	66.0	67.0					10																	14939493		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939493T>G	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.826T>G	10.37:g.14939493T>G	ENSP00000346997:p.Phe276Val					DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.F276V	p.F216V	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN			2	877	+			276			Pre-SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.646T>G	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331871	0.81801	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.91237	-1.74;-1.74;-2.81	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97246	0.9894	10	0.87932	D	0	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	276	Q9H5I1	SUV92_HUMAN	V	276;216;216	ENSP00000346997:F276V;ENSP00000319208:F216V;ENSP00000392201:F216V	ENSP00000319208:F216V	F	+	1	0	SUV39H2	14979499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TTT		0.373	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		93	363	0	0	0	1	0	93	363				
ADAM18	8749	broad.mit.edu	37	8	39581413	39581413	+	Missense_Mutation	SNP	G	G	A	rs372659771		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39581413G>A	ENST00000265707.5	+	19	2209	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T	ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	722					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGAGAGAATGCAGAGTATAA	0.279																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(2164-2166)Gca>Aca		ADAM metallopeptidase domain 18			THR/ALA	1,4403		0,1,2201	86.0	92.0	90.0		2164	-5.6	0.0	8		90	0,8594		0,0,4297	no	missense	ADAM18	NM_014237.2	58	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	722/740	39581413	1,12997	2202	4297	6499	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39581413G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.2164G>A	8.37:g.39581413G>A	ENSP00000265707:p.Ala722Thr					ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T|ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T|ADAM18_ENST00000523755.1_3'UTR	p.A722T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		19	2209	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	722					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.2164G>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	g	4.491	0.091009	0.08632	2.27E-4	0.0	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.93859	-3.3;-3.3;-3.3	4.7	-5.63	0.02474	.	1.710450	0.03277	N	0.185673	T	0.79730	0.4496	N	0.04994	-0.135	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.72207	-0.4360	10	0.15499	T	0.54	.	1.4074	0.02283	0.2341:0.1267:0.3875:0.2518	.	698;722	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	722;698;136	ENSP00000265707:A722T;ENSP00000369195:A698T;ENSP00000444729:A136T	ENSP00000265707:A722T	A	+	1	0	ADAM18	39700570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.137000	0.03219	-0.649000	0.05430	-0.442000	0.05670	GCA		0.279	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		54	232	0	0	0	1	0	54	232				
CYP7A1	1581	broad.mit.edu	37	8	59404294	59404294	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59404294T>C	ENST00000301645.3	-	6	1392	c.1255A>G	c.(1255-1257)Aca>Gca	p.T419A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	419					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTAGTCTTTGTCTTCCCGTTT	0.343									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(1255-1257)Aca>Gca		cytochrome P450, family 7, subfamily A, polypeptide 1							102.0	112.0	109.0					8																	59404294		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404294T>C	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1255A>G	8.37:g.59404294T>C	ENSP00000301645:p.Thr419Ala						p.T419A	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			6	1392	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	419					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1255A>G	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783800	0.31593	.	.	ENSG00000167910	ENST00000301645	T	0.60040	0.22	5.76	-1.34	0.09143	.	0.298471	0.40469	N	0.001089	T	0.27866	0.0686	N	0.11201	0.11	0.26376	N	0.976803	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.12430	T	0.62	-3.4054	6.8926	0.24238	0.0:0.4527:0.2615:0.2858	.	419	P22680	CP7A1_HUMAN	A	419	ENSP00000301645:T419A	ENSP00000301645:T419A	T	-	1	0	CYP7A1	59566848	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	2.557000	0.45871	-0.052000	0.13311	0.533000	0.62120	ACA		0.343	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		126	501	0	0	0	1	0	126	501				
RIMKLB	57494	broad.mit.edu	37	12	8926260	8926260	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926260T>G	ENST00000538135.1	+	6	1866	c.1041T>G	c.(1039-1041)agT>agG	p.S347R	RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000357529.3_Missense_Mutation_p.S347R			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	347					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGAGTGCAAGTTCCAGCTCTG	0.587																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1039-1041)agT>agG		ribosomal modification protein rimK-like family member B							89.0	88.0	88.0					12																	8926260		1952	4140	6092	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926260T>G	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1041T>G	12.37:g.8926260T>G	ENSP00000440943:p.Ser347Arg					RIMKLB_ENST00000538135.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000299673.5_Intron	p.S347R	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			7	2303	+			347					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.1041T>G	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954709	0.34471	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	3.05	0.35203	.	0.052881	0.85682	U	0.000000	T	0.26629	0.0651	N	0.24115	0.695	0.46954	D	0.999268	P	0.50943	0.94	B	0.38655	0.278	T	0.02533	-1.1145	8	.	.	.	.	6.479	0.22053	0.0:0.3151:0.0:0.6849	.	347	Q9ULI2	RIMKB_HUMAN	R	347	.	.	S	+	3	2	RIMKLB	8817527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.199000	0.32235	0.996000	0.38943	0.482000	0.46254	AGT		0.587	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		125	548	0	0	0	1	0	125	548				
KLF6	1316	broad.mit.edu	37	10	3823892	3823892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3823892C>T	ENST00000497571.1	-	2	877	c.617G>A	c.(616-618)gGc>gAc	p.G206D	KLF6_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Missense_Mutation_p.G206D	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	206					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTTCCTGCAGCCGTTAAAGTG	0.657											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000497571.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(616-618)gGc>gAc		Kruppel-like factor 6							67.0	57.0	60.0					10																	3823892		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3823892C>T	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.617G>A	10.37:g.3823892C>T	ENSP00000419923:p.Gly206Asp		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Missense_Mutation_p.G206D	p.G206D	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	877	-			206					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.617G>A	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497189	0.85069	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.76839	1.31;-1.05;-1.05	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.97110	1.0;1.0;0.757	D	0.83488	0.0068	10	0.56958	D	0.05	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	206;206;206	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	D	206	ENSP00000419923:G206D;ENSP00000445301:G206D;ENSP00000419079:G206D	ENSP00000419079:G206D	G	-	2	0	KLF6	3813892	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.711000	0.84669	2.194000	0.70268	0.462000	0.41574	GGC		0.657	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			64	284	0	0	0	1	0	64	284				
OSGEP	55644	broad.mit.edu	37	14	20916132	20916132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20916132C>T	ENST00000206542.4	-	8	1145	c.724G>A	c.(724-726)Gta>Ata	p.V242I	OSGEP_ENST00000555656.1_Missense_Mutation_p.V43I|OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GTGATCTCTACCAGCATTGCA	0.473																																						ENST00000555656.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(127-129)Gta>Ata		O-sialoglycoprotein endopeptidase							110.0	115.0	113.0					14																	20916132		2203	4300	6503	SO:0001583	missense	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20916132C>T	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.724G>A	14.37:g.20916132C>T	ENSP00000206542:p.Val242Ile					OSGEP_ENST00000206542.4_Missense_Mutation_p.V242I|OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I	p.V43I			Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	4	2144	-	all_cancers(95;0.00123)	all_lung(585;0.235)	242						Missense_Mutation	SNP	ENST00000206542.4	37	c.127G>A	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016385	0.54468	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.71	4.71	0.59529	Peptidase M22, glycoprotease (1);	0.058863	0.64402	D	0.000003	T	0.44993	0.1320	L	0.48986	1.54	0.80722	D	1	B	0.19331	0.035	B	0.33690	0.168	T	0.42666	-0.9438	10	0.45353	T	0.12	-6.2207	16.4221	0.83766	0.0:1.0:0.0:0.0	.	242	Q9NPF4	OSGEP_HUMAN	I	43;242;60;60;43	ENSP00000451784:V43I;ENSP00000206542:V242I;ENSP00000451548:V60I;ENSP00000450464:V60I;ENSP00000451787:V43I	ENSP00000206542:V242I	V	-	1	0	OSGEP	19985972	1.000000	0.71417	0.999000	0.59377	0.499000	0.33736	7.292000	0.78731	2.141000	0.66446	0.455000	0.32223	GTA		0.473	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	NM_017807		58	532	0	0	0	1	0	58	532				
BTNL9	153579	broad.mit.edu	37	5	180486818	180486818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180486818C>A	ENST00000327705.9	+	11	1795	c.1564C>A	c.(1564-1566)Cta>Ata	p.L522I	BTNL9_ENST00000376842.3_Missense_Mutation_p.L523I	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	522						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACACCTGGCTACAGCCCTA	0.726																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(1564-1566)Cta>Ata		butyrophilin-like 9							13.0	13.0	13.0					5																	180486818		2196	4294	6490	SO:0001583	missense	153579					integral to membrane		g.chr5:180486818C>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1564C>A	5.37:g.180486818C>A	ENSP00000330200:p.Leu522Ile					BTNL9_ENST00000376842.3_Missense_Mutation_p.L523I	p.L522I	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1795	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	522					A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.1564C>A	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	9.609	1.130772	0.21041	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.39997	1.07;1.05	4.32	-8.64	0.00874	.	1.887700	0.04364	N	0.357958	T	0.19005	0.0456	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.14392	-1.0474	10	0.41790	T	0.15	.	1.0467	0.01571	0.1756:0.2951:0.2863:0.2431	.	522	Q6UXG8	BTNL9_HUMAN	I	522;523	ENSP00000330200:L522I;ENSP00000366038:L523I	ENSP00000330200:L522I	L	+	1	2	BTNL9	180419424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.888000	0.00173	-3.227000	0.00210	-1.651000	0.00758	CTA		0.726	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		9	94	1	0	0.000442599	1	0.000448314	9	94				
ERP44	23071	broad.mit.edu	37	9	102747327	102747327	+	Silent	SNP	G	G	A	rs572046036	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102747327G>A	ENST00000262455.6	-	11	1240	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	347					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AGTCAAATACGAATTGCTTGA	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		17055	0.0		0.0	False		,,,				2504	0.002					ENST00000262455.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						c.(1039-1041)ttC>ttT		endoplasmic reticulum protein 44							90.0	86.0	88.0					9																	102747327		2203	4300	6503	SO:0001819	synonymous_variant	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102747327G>A	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.1041C>T	9.37:g.102747327G>A							p.F347F	NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN			11	1240	-			347					O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Silent	SNP	ENST00000262455.6	37	c.1041C>T	CCDS35082.1																																																																																				0.363	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		28	122	0	0	0	1	0	28	122				
DAW1	164781	broad.mit.edu	37	2	228758521	228758521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228758521G>T	ENST00000309931.2	+	5	411	c.328G>T	c.(328-330)Gga>Tga	p.G110*	DAW1_ENST00000545118.1_Nonsense_Mutation_p.G95*|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000373666.2_Nonsense_Mutation_p.G110*	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	110						cilium (GO:0005929)											CTTTATCACAGGAAGCTATGA	0.443																																						ENST00000373666.2																			0											c.(328-330)Gga>Tga		dynein assembly factor with WDR repeat domains 1							101.0	92.0	95.0					2																	228758521		2203	4300	6503	SO:0001587	stop_gained	164781							g.chr2:228758521G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.328G>T	2.37:g.228758521G>T	ENSP00000311899:p.Gly110*					DAW1_ENST00000545118.1_Nonsense_Mutation_p.G95*|DAW1_ENST00000309931.2_Nonsense_Mutation_p.G110*|DAW1_ENST00000472604.1_3'UTR	p.G110*							5	964	+								Q6ZRY1|Q8N776	Nonsense_Mutation	SNP	ENST00000309931.2	37	c.328G>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	37	6.537249	0.97646	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4891	0.90841	0.0:0.0:1.0:0.0	.	.	.	.	X	110;110;95	.	ENSP00000311899:G110X	G	+	1	0	WDR69	228466765	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.659000	0.91116	2.692000	0.91855	0.650000	0.86243	GGA		0.443	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		56	175	1	0	1.04682e-39	1	1.26644e-39	56	175				
TBC1D22A	25771	broad.mit.edu	37	22	47569242	47569242	+	Silent	SNP	C	C	T	rs144230848	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47569242C>T	ENST00000337137.4	+	13	1693	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000407381.3_Silent_p.A450A|TBC1D22A_ENST00000406733.1_Silent_p.A462A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	509							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTGCTTTTGCCGACGCCCCCA	0.647																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(1525-1527)gcC>gcT		TBC1 domain family, member 22A		C		2,4404	4.2+/-10.8	0,2,2201	95.0	98.0	97.0		1527	-10.4	0.0	22	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	TBC1D22A	NM_014346.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		509/518	47569242	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47569242C>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1527C>T	22.37:g.47569242C>T						TBC1D22A_ENST00000406733.1_Silent_p.A462A|TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000407381.3_Silent_p.A450A	p.A509A	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	13	1693	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	509					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	37	c.1527C>T	CCDS14078.1																																																																																				0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		93	633	0	0	0	1	0	93	633				
HIVEP2	3097	broad.mit.edu	37	6	143094707	143094707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143094707G>A	ENST00000367604.1	-	4	1808	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P390L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P390Q(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTACTGTGCGGGCTCAGAAG	0.443																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.P390Q(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(1168-1170)cCg>cTg		human immunodeficiency virus type I enhancer binding protein 2							131.0	127.0	128.0					6																	143094707		1898	4122	6020	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094707G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1169C>T	6.37:g.143094707G>A	ENSP00000356576:p.Pro390Leu					HIVEP2_ENST00000367604.1_Missense_Mutation_p.P390L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L	p.P390L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	1911	-			390					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1169C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277436	0.80580	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.53423	0.62;0.62;0.62	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72620	-0.4238	10	0.87932	D	0	-23.2456	20.0844	0.97795	0.0:0.0:1.0:0.0	.	390	P31629	ZEP2_HUMAN	L	390	ENSP00000356576:P390L;ENSP00000356575:P390L;ENSP00000012134:P390L	ENSP00000012134:P390L	P	-	2	0	HIVEP2	143136400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	CCG		0.443	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			145	595	0	0	0	1	0	145	595				
COX4I2	84701	broad.mit.edu	37	20	30232619	30232619	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30232619A>C	ENST00000376075.3	+	5	503	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	143					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAAGCCCAGCAGCTGCAGCGC	0.572																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(427-429)cAg>cCg		cytochrome c oxidase subunit IV isoform 2 (lung)							88.0	73.0	78.0					20																	30232619		2203	4300	6503	SO:0001583	missense	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30232619A>C	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.428A>C	20.37:g.30232619A>C	ENSP00000365243:p.Gln143Pro					COX4I2_ENST00000490030.1_3'UTR	p.Q143P	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		5	503	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		143					Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	c.428A>C	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170242	0.57584	.	.	ENSG00000131055	ENST00000376075	T	0.58358	0.34	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.73125	0.3547	M	0.87971	2.92	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.77186	-0.2680	10	0.72032	D	0.01	-13.3586	9.8851	0.41257	1.0:0.0:0.0:0.0	.	143	Q96KJ9	COX42_HUMAN	P	143	ENSP00000365243:Q143P	ENSP00000365243:Q143P	Q	+	2	0	COX4I2	29696280	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.631000	0.83237	1.840000	0.53500	0.260000	0.18958	CAG		0.572	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		36	193	0	0	0	1	0	36	193				
ZCCHC10	54819	broad.mit.edu	37	5	132334384	132334384	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132334384G>T	ENST00000509437.1	-	5	477	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.S135Y|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S121Y|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000509008.1_3'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	157	Ser-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ggaggaggaagaggttgtgga	0.488																																						ENST00000324170.3																			0				skin(1)	1						c.(403-405)tCt>tAt		zinc finger, CCHC domain containing 10							96.0	100.0	99.0					5																	132334384		2203	4299	6502	SO:0001583	missense	54819						nucleic acid binding|zinc ion binding	g.chr5:132334384G>T	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.470C>A	5.37:g.132334384G>T	ENSP00000423276:p.Ser157Tyr					ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S121Y|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.S157Y|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_3'UTR	p.S135Y	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	470	-			157			Ser-rich.		Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	37	c.404C>A		.	.	.	.	.	.	.	.	.	.	G	11.00	1.511396	0.27036	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848	.	.	.	4.82	2.98	0.34508	.	0.521196	0.19466	N	0.113573	T	0.63510	0.2517	.	.	.	0.80722	D	1	P;P;P	0.47191	0.729;0.826;0.891	B;B;P	0.47705	0.431;0.365;0.555	T	0.68002	-0.5524	8	0.87932	D	0	.	14.731	0.69383	0.0:0.276:0.724:0.0	.	121;157;135	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	Y	135;151;157;121	.	ENSP00000324274:S135Y	S	-	2	0	ZCCHC10	132362283	1.000000	0.71417	0.435000	0.26784	0.442000	0.32017	6.371000	0.73119	0.534000	0.28695	-0.300000	0.09419	TCT		0.488	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		11	287	1	0	1.58986e-06	1	1.64048e-06	11	287				
HEATR5B	54497	broad.mit.edu	37	2	37296066	37296066	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37296066A>G	ENST00000233099.5	-	8	1030	c.935T>C	c.(934-936)gTt>gCt	p.V312A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	312						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACAAAAACAACATACGCCTG	0.423																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(934-936)gTt>gCt		HEAT repeat containing 5B							57.0	55.0	56.0					2																	37296066		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37296066A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.935T>C	2.37:g.37296066A>G	ENSP00000233099:p.Val312Ala					HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	p.V312A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			8	1030	-		all_hematologic(82;0.21)	312					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.935T>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370946	0.82573	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07800	3.16;3.16	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00731	-1.1590	10	0.34782	T	0.22	-25.8704	16.1819	0.81915	1.0:0.0:0.0:0.0	.	312	Q9P2D3	HTR5B_HUMAN	A	312	ENSP00000233099:V312A;ENSP00000346531:V312A	ENSP00000233099:V312A	V	-	2	0	HEATR5B	37149570	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.182000	0.94881	2.279000	0.76181	0.533000	0.62120	GTT		0.423	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		50	132	0	0	0	1	0	50	132				
OR1S1	219959	broad.mit.edu	37	11	57982274	57982274	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982274A>G	ENST00000309433.6	+	1	58	c.58A>G	c.(58-60)Acc>Gcc	p.T20A		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGGAAACCAAACCACCATCAC	0.413																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(58-60)Acc>Gcc		olfactory receptor, family 1, subfamily S, member 1							193.0	176.0	182.0					11																	57982274		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982274A>G	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.58A>G	11.37:g.57982274A>G	ENSP00000311688:p.Thr20Ala						p.T20A	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	58	+		Breast(21;0.0589)	20					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.58A>G	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347191	0.24426	.	.	ENSG00000172774	ENST00000309433	T	0.04406	3.63	3.45	3.45	0.39498	.	0.000000	0.50627	D	0.000111	T	0.11707	0.0285	M	0.88704	2.975	0.09310	N	1	D	0.54207	0.965	P	0.44518	0.452	T	0.16928	-1.0386	10	0.72032	D	0.01	.	9.8205	0.40880	1.0:0.0:0.0:0.0	.	20	Q8NH92	OR1S1_HUMAN	A	20	ENSP00000311688:T20A	ENSP00000311688:T20A	T	+	1	0	OR1S1	57738850	0.016000	0.18221	0.424000	0.26647	0.014000	0.08584	2.735000	0.47377	1.443000	0.47586	0.392000	0.25879	ACC		0.413	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		97	462	0	0	0	1	0	97	462				
THRAP3	9967	broad.mit.edu	37	1	36766592	36766592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36766592G>T	ENST00000354618.5	+	10	2633	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	803	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGAAAGAGAGGAGAGCACCA	0.512			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2407-2409)gaG>gaT		thyroid hormone receptor associated protein 3							87.0	81.0	83.0					1																	36766592		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36766592G>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2409G>T	1.37:g.36766592G>T	ENSP00000346634:p.Glu803Asp					THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	p.E803D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			10	2633	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	803					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2409G>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479885	0.63849	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16196	2.36;2.36	5.51	2.51	0.30379	.	0.000000	0.64402	D	0.000001	T	0.16041	0.0386	L	0.54323	1.7	0.35027	D	0.758439	B	0.12013	0.005	B	0.15870	0.014	T	0.11717	-1.0576	10	0.33141	T	0.24	-19.3771	10.2893	0.43586	0.2348:0.0:0.7652:0.0	.	803	Q9Y2W1	TR150_HUMAN	D	803	ENSP00000346634:E803D;ENSP00000433825:E803D	ENSP00000346634:E803D	E	+	3	2	THRAP3	36539179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.993000	0.40747	0.767000	0.33267	0.650000	0.86243	GAG		0.512	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		34	267	1	0	3.11337e-16	1	3.41587e-16	34	267				
FAM220A	84792	broad.mit.edu	37	7	6370157	6370157	+	Missense_Mutation	SNP	C	C	T	rs551319790		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6370157C>T	ENST00000313324.4	-	2	1096	c.629G>A	c.(628-630)cGc>cAc	p.R210H	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	210						nucleus (GO:0005634)											AAGGAAAATGCGTTTTGTCTC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20210	0.0		0.0	False		,,,				2504	0.001					ENST00000313324.4																			0											c.(628-630)cGc>cAc		family with sequence similarity 220, member A							122.0	131.0	128.0					7																	6370157		2203	4300	6503	SO:0001583	missense	84792					nucleus		g.chr7:6370157C>T	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.629G>A	7.37:g.6370157C>T	ENSP00000317289:p.Arg210His						p.R210H	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	1096	-			210					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.629G>A	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	8.096	0.775509	0.16051	.	.	ENSG00000178397	ENST00000313324	T	0.06371	3.31	5.44	-2.56	0.06268	.	1.369130	0.04941	U	0.458621	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43605	-0.9381	10	0.17369	T	0.5	-0.0292	0.7341	0.00962	0.2418:0.241:0.1199:0.3973	.	210	Q7Z4H9	SIPAR_HUMAN	H	210	ENSP00000317289:R210H	ENSP00000317289:R210H	R	-	2	0	C7orf70	6336682	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.340000	0.07821	-0.605000	0.05753	-1.091000	0.02175	CGC		0.483	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		37	776	0	0	0	1	0	37	776				
PLCB4	5332	broad.mit.edu	37	20	9389787	9389787	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9389787A>G	ENST00000378493.1	+	20	1937	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	PLCB4_ENST00000378501.2_Missense_Mutation_p.N641S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	641	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTTCTGGAACGCTGGCTGC	0.468																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1921-1923)aAc>aGc		phospholipase C, beta 4							65.0	54.0	58.0					20																	9389787		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389787A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1922A>G	20.37:g.9389787A>G	ENSP00000367754:p.Asn641Ser					PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S|PLCB4_ENST00000378493.1_Missense_Mutation_p.N641S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S	p.N641S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1937	+			641			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1922A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750074	0.89753	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.92	5.92	0.95590	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.080904	0.85682	D	0.000000	T	0.76630	0.4014	L	0.45285	1.41	0.80722	D	1	D;B;D;D	0.65815	0.968;0.262;0.995;0.993	P;B;D;P	0.71870	0.693;0.086;0.975;0.841	T	0.78710	-0.2098	10	0.87932	D	0	.	16.3544	0.83230	1.0:0.0:0.0:0.0	.	653;488;641;641	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	641;653;641;641;641;489	ENSP00000334105:N641S;ENSP00000367734:N653S;ENSP00000278655:N641S;ENSP00000367754:N641S;ENSP00000367762:N641S;ENSP00000390616:N489S	ENSP00000278655:N641S	N	+	2	0	PLCB4	9337787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.265000	0.75225	0.459000	0.35465	AAC		0.468	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			36	123	0	0	0	1	0	36	123				
SAR1B	51128	broad.mit.edu	37	5	133944084	133944084	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133944084A>G	ENST00000402673.2	-	6	736	c.458T>C	c.(457-459)tTa>tCa	p.L153S	SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S|SAR1B_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	153					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)|GTP catabolic process (GO:0006184)|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)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGACCATATAAACCAAACAT	0.353																																						ENST00000402673.2																			0				kidney(2)|lung(2)|urinary_tract(1)	5						c.(457-459)tTa>tCa		SAR1 homolog B (S. cerevisiae)							99.0	84.0	89.0					5																	133944084		2201	4299	6500	SO:0001583	missense	51128				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding	g.chr5:133944084A>G	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"""SAR1a gene homolog (S. cerevisiae) 2"", ""SAR1a gene homolog 2 (S. cerevisiae)"", ""SAR1 homolog B (S. cerevisiae)"""	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.458T>C	5.37:g.133944084A>G	ENSP00000385432:p.Leu153Ser					SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S|SAR1B_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S|SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S	p.L153S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	736	-			153					D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	c.458T>C	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710077	0.89018	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.56	5.56	0.83823	.	0.071028	0.64402	D	0.000012	D	0.90480	0.7018	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94115	0.7374	10	0.87932	D	0	-9.0065	16.021	0.80493	1.0:0.0:0.0:0.0	.	153	Q9Y6B6	SAR1B_HUMAN	S	85;153;85;85;153;85;85;153	ENSP00000385432:L153S;ENSP00000425339:L85S;ENSP00000426335:L85S;ENSP00000404997:L153S;ENSP00000424673:L85S;ENSP00000423197:L85S;ENSP00000425466:L153S	ENSP00000378443:L85S	L	-	2	0	SAR1B	133971983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.201000	0.95017	2.240000	0.73641	0.533000	0.62120	TTA		0.353	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		12	37	0	0	0	1	0	12	37				
SLC38A6	145389	broad.mit.edu	37	14	61446005	61446005	+	5'Flank	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61446005C>T	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|SLC38A6_ENST00000456840.2_5'Flank|TRMT5_ENST00000261249.6_Missense_Mutation_p.G204E|RP11-193F5.1_ENST00000553946.1_RNA	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGCAATATGTCCAATCCTGCT	0.368																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(610-612)gGa>gAa		tRNA methyltransferase 5							113.0	107.0	109.0					14																	61446005		2203	4300	6503	SO:0001631	upstream_gene_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61446005C>T	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446005C>T	Exception_encountered					RP11-193F5.1_ENST00000553946.1_RNA	p.G204E	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	2	995	-			204					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.611G>A	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907767	0.92107	.	.	ENSG00000126814	ENST00000261249	T	0.64085	-0.08	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.87297	0.6142	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92249	0.5807	10	0.87932	D	0	-26.7256	18.1347	0.89614	0.0:1.0:0.0:0.0	.	204	Q32P41	TRM5_HUMAN	E	204	ENSP00000261249:G204E	ENSP00000261249:G204E	G	-	2	0	TRMT5	60515758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.295000	0.78780	2.489000	0.83994	0.655000	0.94253	GGA		0.368	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			22	356	0	0	0	1	0	22	356				
ZNF536	9745	broad.mit.edu	37	19	31040060	31040060	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1178					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGAGAACAACGATGAAGAGG	0.552																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3532-3534)aaC>aaT		zinc finger protein 536							71.0	72.0	72.0					19																	31040060		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040060C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3534C>T	19.37:g.31040060C>T							p.N1178N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3681	+	Esophageal squamous(110;0.0834)		1178					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3534C>T	CCDS32984.1																																																																																				0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		81	316	0	0	0	1	0	81	316				
SBF1	6305	broad.mit.edu	37	22	50899987	50899987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50899987C>T	ENST00000390679.3	-	22	2988	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q|SBF1_ENST00000380817.3_Missense_Mutation_p.R935Q			O95248	MTMR5_HUMAN	SET binding factor 1	935	GRAM.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGATGACCCGGTACGTGGT	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2803-2805)cGg>cAg		SET binding factor 1							26.0	34.0	31.0					22																	50899987		2024	4145	6169	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50899987C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2804G>A	22.37:g.50899987C>T	ENSP00000375097:p.Arg935Gln					SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q|SBF1_ENST00000390679.3_Missense_Mutation_p.R935Q	p.R935Q	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	22	2987	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	935			GRAM.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2804G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.423355	0.96111	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86030	-2.06;-2.06;-2.06	3.96	3.96	0.45880	GRAM (2);	0.065333	0.64402	D	0.000018	D	0.92685	0.7675	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.996;0.99	D	0.94148	0.7403	10	0.87932	D	0	.	15.801	0.78453	0.0:1.0:0.0:0.0	.	935;936;935	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	Q	935;936;945;935	ENSP00000370196:R935Q;ENSP00000252027:R936Q;ENSP00000375097:R935Q	ENSP00000336522:R945Q	R	-	2	0	SBF1	49246853	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.492000	0.66893	2.048000	0.60808	0.467000	0.42956	CGG		0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				10	205	0	0	0	1	0	10	205				
KCNK1	3775	broad.mit.edu	37	1	233802529	233802529	+	Missense_Mutation	SNP	G	G	A	rs199630093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802529G>A	ENST00000366621.3	+	2	712	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	182					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GGTGGCCATCGTCCATGCCGT	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16427	0.0		0.0	False		,,,				2504	0.0					ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(544-546)Gtc>Atc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						159.0	125.0	137.0					1																	233802529		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802529G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.544G>A	1.37:g.233802529G>A	ENSP00000355580:p.Val182Ile					KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I	p.V182I	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	712	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	182					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.544G>A	CCDS1599.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.11	1.259144	0.23051	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97430	1.92;-4.38;-4.38	5.91	4.81	0.61882	.	0.308108	0.36134	N	0.002768	D	0.88731	0.6516	N	0.03324	-0.35	0.36554	D	0.872027	B	0.11235	0.004	B	0.06405	0.002	D	0.84840	0.0807	10	0.07482	T	0.82	.	10.5251	0.44943	0.141:0.0:0.859:0.0	.	182	O00180	KCNK1_HUMAN	I	182;66;100	ENSP00000355580:V182I;ENSP00000355579:V66I;ENSP00000409626:V100I	ENSP00000355579:V66I	V	+	1	0	KCNK1	231869152	0.998000	0.40836	0.842000	0.33263	0.552000	0.35366	3.077000	0.50089	2.793000	0.96121	0.655000	0.94253	GTC		0.607	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		142	338	0	0	0	1	0	142	338				
TRANK1	9881	broad.mit.edu	37	3	36897987	36897987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897987C>T	ENST00000429976.2	-	12	3341	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G482R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1032							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCACTTCGCCCAATAAGGATG	0.547																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3094-3096)Ggg>Agg		tetratricopeptide repeat and ankyrin repeat containing 1							82.0	81.0	82.0					3																	36897987		1966	4152	6118	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897987C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3094G>A	3.37:g.36897987C>T	ENSP00000416168:p.Gly1032Arg					TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G482R	p.G1032R			O15050	TRNK1_HUMAN			12	3341	-			1032					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3094G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929489	0.73327	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.90261	-2.64;-2.64;-2.64	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000008	D	0.95265	0.8464	M	0.75777	2.31	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95552	0.8621	10	0.87932	D	0	.	19.0703	0.93130	0.0:1.0:0.0:0.0	.	1032	O15050	TRNK1_HUMAN	R	482;1032;482	ENSP00000416826:G482R;ENSP00000416168:G1032R;ENSP00000301807:G482R	ENSP00000301807:G482R	G	-	1	0	TRANK1	36872991	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.976000	0.70484	2.594000	0.87642	0.462000	0.41574	GGG		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		83	335	0	0	0	1	0	83	335				
SEMA6A	57556	broad.mit.edu	37	5	115832009	115832009	+	Splice_Site	SNP	T	T	C	rs548814059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115832009T>C	ENST00000343348.6	-	5	1067	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000257414.8_Splice_Site_p.K94E|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Splice_Site_p.K94E	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	94	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		catgtcagtttctgcagggat	0.423													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.0					ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.e5-1		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							140.0	138.0	138.0					5																	115832009		1847	4078	5925	SO:0001630	splice_region_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115832009T>C	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.280-1A>G	5.37:g.115832009T>C						SEMA6A_ENST00000510263.1_Splice_Site_p.K94_splice|SEMA6A_ENST00000257414.8_Splice_Site_p.K94_splice|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000514214.1_RNA	p.K94_splice	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	5	1067	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	94			Sema.		Q9P2H9	Splice_Site	SNP	ENST00000343348.6	37	c.279_splice	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108165	0.77096	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.29397	2.79;2.79;2.79;1.57;1.57	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.45698	1.435	0.80722	D	1	P;P	0.40266	0.71;0.662	P;B	0.47470	0.548;0.412	T	0.18650	-1.0330	10	0.72032	D	0.01	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	94;94	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	E	94	ENSP00000345512:K94E;ENSP00000257414:K94E;ENSP00000424388:K94E;ENSP00000421935:K94E;ENSP00000425553:K94E	ENSP00000257414:K94E	K	-	1	0	SEMA6A	115859908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	AAA		0.423	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	Missense_Mutation	87	340	0	0	0	1	0	87	340				
INTU	27152	broad.mit.edu	37	4	128625399	128625399	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128625399A>G	ENST00000335251.6	+	10	1623	c.1520A>G	c.(1519-1521)gAc>gGc	p.D507G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	507					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATTACTATGACATGAGGCGG	0.313																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1519-1521)gAc>gGc		inturned planar cell polarity protein							122.0	125.0	124.0					4																	128625399		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128625399A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1520A>G	4.37:g.128625399A>G	ENSP00000334003:p.Asp507Gly					INTU_ENST00000512995.1_3'UTR	p.D507G	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			10	1623	+			507					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1520A>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890620	0.33348	.	.	ENSG00000164066	ENST00000335251	T	0.32515	1.45	5.14	5.14	0.70334	.	0.166700	0.52532	D	0.000064	T	0.22627	0.0546	N	0.21142	0.635	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.03483	-1.1032	10	0.31617	T	0.26	-15.4633	14.7898	0.69830	1.0:0.0:0.0:0.0	.	507	Q9ULD6	PDZD6_HUMAN	G	507	ENSP00000334003:D507G	ENSP00000334003:D507G	D	+	2	0	INTU	128844849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.459000	0.60102	2.158000	0.67659	0.454000	0.30748	GAC		0.313	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		107	369	0	0	0	1	0	107	369				
ATP8A2	51761	broad.mit.edu	37	13	26535801	26535801	+	Splice_Site	SNP	C	C	T	rs199725711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26535801C>T	ENST00000381655.2	+	34	3414	c.3272C>T	c.(3271-3273)gCa>gTa	p.A1091V	ATP8A2_ENST00000255283.8_Splice_Site_p.A1026V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1051					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCATGGAGAGCGTAAGTTTAA	0.473																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.e34+1		ATPase, aminophospholipid transporter, class I, type 8A, member 2		C	VAL/ALA	0,3852		0,0,1926	175.0	158.0	163.0		3272	5.5	1.0	13		163	1,8285		0,1,4142	yes	missense-near-splice	ATP8A2	NM_016529.4	64	0,1,6068	TT,TC,CC		0.0121,0.0,0.0082	benign	1091/1189	26535801	1,12137	1926	4143	6069	SO:0001630	splice_region_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26535801C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3272+1C>T	13.37:g.26535801C>T						ATP8A2_ENST00000255283.8_Splice_Site_p.A1026_splice	p.A1091_splice	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	34	3414	+		Breast(139;0.0201)|Lung SC(185;0.0225)	1051					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Splice_Site	SNP	ENST00000381655.2	37	c.3272_splice	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125480	0.37533	0.0	1.21E-4	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.41065	1.01;1.01	5.48	5.48	0.80851	.	0.134429	0.48286	D	0.000192	T	0.28962	0.0719	N	0.16862	0.45	0.40851	D	0.98375	B;B	0.19935	0.014;0.04	B;B	0.11329	0.006;0.006	T	0.08432	-1.0722	10	0.18276	T	0.48	.	17.4784	0.87667	0.0:1.0:0.0:0.0	.	1026;1051	B7Z880;Q9NTI2	.;AT8A2_HUMAN	V	1091;1026;871	ENSP00000371070:A1091V;ENSP00000255283:A1026V	ENSP00000255283:A1026V	A	+	2	0	ATP8A2	25433801	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.937000	0.56575	2.722000	0.93159	0.650000	0.86243	GCA		0.473	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	Missense_Mutation	66	349	0	0	0	1	0	66	349				
SLC6A11	6538	broad.mit.edu	37	3	10970960	10970960	+	Missense_Mutation	SNP	C	C	T	rs527421623		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10970960C>T	ENST00000254488.2	+	10	1372	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	436					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GGGTTACCGGCGGGAGCTGCT	0.552																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1306-1308)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 11							206.0	199.0	201.0					3																	10970960		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10970960C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1306C>T	3.37:g.10970960C>T	ENSP00000254488:p.Arg436Trp						p.R436W	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	10	1372	+			436					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1306C>T	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772455	0.69992	.	.	ENSG00000132164	ENST00000254488	D	0.82167	-1.58	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95915	0.8926	10	0.87932	D	0	.	13.2142	0.59849	0.3593:0.6407:0.0:0.0	.	436	P48066	S6A11_HUMAN	W	436	ENSP00000254488:R436W	ENSP00000254488:R436W	R	+	1	2	SLC6A11	10945960	0.203000	0.23435	1.000000	0.80357	0.995000	0.86356	0.322000	0.19576	2.376000	0.81061	0.462000	0.41574	CGG		0.552	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		208	756	0	0	0	1	0	208	756				
SMYD5	10322	broad.mit.edu	37	2	73449901	73449901	+	Missense_Mutation	SNP	C	C	T	rs554531603		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73449901C>T	ENST00000389501.4	+	7	706	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	221	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGAACTTCTGCGGAGACTCTT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18232	0.0		0.0	False		,,,				2504	0.0					ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(661-663)Cgg>Tgg		SMYD family member 5							42.0	40.0	41.0					2																	73449901		2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73449901C>T	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.661C>T	2.37:g.73449901C>T	ENSP00000374152:p.Arg221Trp						p.R221W	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			7	706	+			221					D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.661C>T	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905965	0.72868	.	.	ENSG00000135632	ENST00000389501	T	0.47869	0.83	4.6	2.59	0.31030	SET domain (2);	0.180314	0.48767	D	0.000175	T	0.62392	0.2424	M	0.77103	2.36	0.39539	D	0.968782	D	0.71674	0.998	P	0.60886	0.88	T	0.66152	-0.5995	10	0.35671	T	0.21	-9.9667	12.5013	0.55957	0.2975:0.7025:0.0:0.0	.	221	Q6GMV2	SMYD5_HUMAN	W	221	ENSP00000374152:R221W	ENSP00000374152:R221W	R	+	1	2	SMYD5	73303409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.396000	0.44468	1.242000	0.43836	0.561000	0.74099	CGG		0.587	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		13	91	0	0	0	1	0	13	91				
MTRR	4552	broad.mit.edu	37	5	7897209	7897209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7897209A>G	ENST00000264668.2	+	14	1912	c.1882A>G	c.(1882-1884)Atc>Gtc	p.I628V	MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	628					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TAAGCATGGGATCTTAACTCA	0.398																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(1882-1884)Atc>Gtc		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						58.0	63.0	62.0					5																	7897209		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7897209A>G	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1882A>G	5.37:g.7897209A>G	ENSP00000264668:p.Ile628Val					MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	p.I628V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			14	1912	+			628					O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.1882A>G	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	A	0.888	-0.726317	0.03158	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	D;D	0.86366	-2.11;-2.11	5.4	-3.84	0.04256	Oxidoreductase FAD/NAD(P)-binding (1);	0.686685	0.14816	N	0.296751	T	0.64371	0.2592	N	0.02960	-0.455	0.19300	N	0.99997	B	0.09022	0.002	B	0.12156	0.007	T	0.56141	-0.8028	10	0.02654	T	1	-11.5564	13.6269	0.62170	0.3905:0.0:0.6095:0.0	.	628	Q9UBK8	MTRR_HUMAN	V	628;601	ENSP00000264668:I628V;ENSP00000402510:I601V	ENSP00000264668:I628V	I	+	1	0	MTRR	7950209	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	0.907000	0.28531	-0.889000	0.03950	0.533000	0.62120	ATC		0.398	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			45	252	0	0	0	1	0	45	252				
RPL36	25873	broad.mit.edu	37	19	5693652	5693652	+	IGR	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5693652C>A	ENST00000577222.1	+	0	874				LONP1_ENST00000590729.1_Missense_Mutation_p.A687S|LONP1_ENST00000540670.2_Missense_Mutation_p.A621S|LONP1_ENST00000593119.1_Missense_Mutation_p.A753S|LONP1_ENST00000360614.3_Missense_Mutation_p.A817S|LONP1_ENST00000585374.1_Missense_Mutation_p.A703S			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						AAGGTGTAGGCTATGCGGGCG	0.637																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2449-2451)Gcc>Tcc		lon peptidase 1, mitochondrial							171.0	122.0	139.0					19																	5693652		2203	4300	6503	SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5693652C>A		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693652C>A						LONP1_ENST00000593119.1_Missense_Mutation_p.A753S|LONP1_ENST00000540670.2_Missense_Mutation_p.A621S|LONP1_ENST00000590729.1_Missense_Mutation_p.A687S|LONP1_ENST00000585374.1_Missense_Mutation_p.A703S	p.A817S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			16	2606	-			817					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.2449G>T	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936412	0.92458	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.39787	1.06;1.06	4.33	4.33	0.51752	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.88377	2.95	0.80722	D	1	D;D;D	0.60575	0.988;0.965;0.988	D;D;D	0.73708	0.955;0.981;0.955	T	0.76011	-0.3115	10	0.66056	D	0.02	-30.7488	14.3306	0.66553	0.0:1.0:0.0:0.0	.	817;753;817	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	S	817;781;621	ENSP00000353826:A817S;ENSP00000441523:A621S	ENSP00000351177:A781S	A	-	1	0	LONP1	5644652	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	7.481000	0.81124	1.922000	0.55676	0.549000	0.68633	GCC		0.637	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		97	321	1	0	2.31626e-56	1	2.89815e-56	97	321				
SSTR3	6753	broad.mit.edu	37	22	37603573	37603573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37603573G>A	ENST00000328544.3	-	2	803	c.270C>T	c.(268-270)gaC>gaT	p.D90D	SSTR3_ENST00000402501.1_Silent_p.D90D	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	90					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TGAAGAGCTCGTCGGCCAGCG	0.647																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(268-270)gaC>gaT		somatostatin receptor 3							73.0	69.0	71.0					22																	37603573		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603573G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.270C>T	22.37:g.37603573G>A						SSTR3_ENST00000402501.1_Silent_p.D90D	p.D90D	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	803	-			90					A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.270C>T	CCDS13944.1																																																																																				0.647	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			12	508	0	0	0	1	0	12	508				
SLC39A7	7922	broad.mit.edu	37	6	33169572	33169572	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33169572C>T	ENST00000374677.3	+	2	835	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.F154F|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	154					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTGTCCTCTTCCTTATCCCCG	0.547																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(460-462)ttC>ttT		solute carrier family 39 (zinc transporter), member 7							77.0	89.0	85.0					6																	33169572		1310	2554	3864	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169572C>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.462C>T	6.37:g.33169572C>T						SLC39A7_ENST00000374675.3_Silent_p.F154F	p.F154F	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			2	835	+			154					B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.462C>T	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748232	0.15710	.	.	ENSG00000112473	ENST00000445037	.	.	.	4.84	0.998	0.19857	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10154	-1.0642	5	0.21014	T	0.42	-17.2381	8.5856	0.33655	0.0:0.6571:0.0:0.3429	.	.	.	.	S	60	.	ENSP00000416844:P60S	P	+	1	0	SLC39A7	33277550	0.997000	0.39634	1.000000	0.80357	0.924000	0.55760	0.472000	0.22116	0.272000	0.22027	-0.284000	0.09977	CCT		0.547	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		71	340	0	0	0	1	0	71	340				
FBXO44	93611	broad.mit.edu	37	1	11718605	11718605	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11718605C>A	ENST00000251547.5	+	4	490	c.408C>A	c.(406-408)tcC>tcA	p.S136S	FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.P127T|FBXO44_ENST00000376770.1_Silent_p.S136S	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	136	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCAAGTCCCAGGTGGTGG	0.662																																						ENST00000376768.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(379-381)Cca>Aca		F-box protein 44							30.0	32.0	32.0					1																	11718605		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718605C>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.408C>A	1.37:g.11718605C>A						FBXO44_ENST00000251547.5_Silent_p.S136S|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376770.1_Silent_p.S136S|FBXO44_ENST00000376762.4_Intron	p.P127T			Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	481	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.379C>A	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231723	0.58777	.	.	ENSG00000132879	ENST00000376768	T	0.34072	1.38	5.37	4.35	0.52113	.	1.052530	0.07394	N	0.889643	T	0.28665	0.0710	.	.	.	0.80722	D	1	B	0.26363	0.147	B	0.21360	0.034	T	0.20706	-1.0267	9	0.49607	T	0.09	.	7.6947	0.28587	0.0:0.8095:0.0:0.1905	.	127	B7Z1P2	.	T	127	ENSP00000365959:P127T	ENSP00000365959:P127T	P	+	1	0	FBXO44	11641192	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.332000	0.19751	2.520000	0.84964	0.549000	0.68633	CCA		0.662	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		42	168	1	0	2.66277e-13	1	2.87267e-13	42	168				
CEACAM16	388551	broad.mit.edu	37	19	45209005	45209005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45209005G>T	ENST00000405314.2	+	4	904	c.807G>T	c.(805-807)caG>caT	p.Q269H	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.Q269H			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	269	Ig-like C2-type 2.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCAACGGGCAGGCCCTAAAGA	0.572																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(805-807)caG>caT		carcinoembryonic antigen-related cell adhesion molecule 16							95.0	106.0	102.0					19																	45209005		2131	4240	6371	SO:0001583	missense	388551							g.chr19:45209005G>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.807G>T	19.37:g.45209005G>T	ENSP00000385576:p.Gln269His					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.Q269H	p.Q269H	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			5	1022	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	269					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.807G>T	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614232	0.46631	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.12879	2.64	4.58	1.12	0.20585	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.783384	0.09963	U	0.733215	T	0.11024	0.0269	L	0.37697	1.125	0.22571	N	0.998973	P	0.46656	0.882	B	0.42282	0.382	T	0.22906	-1.0203	10	0.44086	T	0.13	-14.1742	5.1227	0.14869	0.0985:0.0:0.5353:0.3662	.	328	Q2WEN9	CEA16_HUMAN	H	334;269	ENSP00000385576:Q269H	ENSP00000379974:Q334H	Q	+	3	2	CEACAM16	49900845	1.000000	0.71417	0.945000	0.38365	0.864000	0.49448	1.107000	0.31110	0.153000	0.19213	0.555000	0.69702	CAG		0.572	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		61	233	1	0	6.60958e-23	1	7.49606e-23	61	233				
MAP7D3	79649	broad.mit.edu	37	X	135328253	135328253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135328253C>T	ENST00000316077.9	-	3	444	c.224G>A	c.(223-225)cGc>cAc	p.R75H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R75H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	75					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R372H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTCCTCTCTGCGCTCTCTTGC	0.274																																						ENST00000316077.9																			1	Substitution - Missense(1)	p.R372H(1)	large_intestine(1)	central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(223-225)cGc>cAc		MAP7 domain containing 3							168.0	141.0	150.0					X																	135328253		1825	4082	5907	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135328253C>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.224G>A	X.37:g.135328253C>T	ENSP00000318086:p.Arg75His					MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R75H	p.R75H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			3	444	-	Acute lymphoblastic leukemia(192;0.000127)		75					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.224G>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986959	0.53934	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.57	5.57	0.84162	.	0.000000	0.32802	N	0.005639	T	0.34978	0.0916	M	0.70275	2.135	0.42323	D	0.992268	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.05566	-1.0877	10	0.72032	D	0.01	-17.3619	18.3794	0.90445	0.0:1.0:0.0:0.0	.	57;75;75;75	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	75;75;57;75	ENSP00000359695:R75H;ENSP00000318086:R75H;ENSP00000359697:R57H;ENSP00000359694:R75H	ENSP00000318086:R75H	R	-	2	0	MAP7D3	135155919	0.997000	0.39634	0.031000	0.17742	0.002000	0.02628	4.724000	0.61972	2.466000	0.83321	0.594000	0.82650	CGC		0.274	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			78	361	0	0	0	1	0	78	361				
CLGN	1047	broad.mit.edu	37	4	141310389	141310389	+	Nonsense_Mutation	SNP	G	G	A	rs200583755	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141310389G>A	ENST00000325617.5	-	15	2262	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CLGN_ENST00000537281.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000414773.1_Nonsense_Mutation_p.R608*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	608					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TAGTCCTTTCGTACTCTTCTT	0.373													G|||	8	0.00159744	0.0	0.0	5008	,	,		16077	0.0		0.0	False		,,,				2504	0.0082					ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1822-1824)Cga>Tga		calmegin		G	stop/ARG,stop/ARG	4,4402	8.1+/-20.4	0,4,2199	145.0	144.0	144.0		1822,1822	4.3	1.0	4		144	0,8600		0,0,4300	yes	stop-gained,stop-gained	CLGN	NM_001130675.1,NM_004362.2	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	608/611,608/611	141310389	4,13002	2203	4300	6503	SO:0001587	stop_gained	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141310389G>A	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1822C>T	4.37:g.141310389G>A	ENSP00000326699:p.Arg608*					CLGN_ENST00000537281.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000414773.1_Nonsense_Mutation_p.R608*	p.R608*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			15	2262	-	all_hematologic(180;0.162)		608					B3KS90|B4DXV8|D3DNY8	Nonsense_Mutation	SNP	ENST00000325617.5	37	c.1822C>T	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	G	38	6.998730	0.97990	9.08E-4	0.0	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	.	.	.	5.22	4.32	0.51571	.	0.173966	0.37348	N	0.002125	.	.	.	.	.	.	0.31086	N	0.711327	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2011	15.6991	0.77528	0.0:0.0:0.8631:0.1369	.	.	.	.	X	608;608;608;525	.	ENSP00000326699:R608X	R	-	1	2	CLGN	141529839	1.000000	0.71417	0.972000	0.41901	0.839000	0.47603	6.257000	0.72480	2.584000	0.87258	0.591000	0.81541	CGA		0.373	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		16	407	0	0	0	1	0	16	407				
GRM4	2914	broad.mit.edu	37	6	33996020	33996020	+	Missense_Mutation	SNP	G	G	A	rs376715421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33996020G>A	ENST00000538487.2	-	10	3009	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000609222.1_Missense_Mutation_p.R723C|GRM4_ENST00000374177.3_Missense_Mutation_p.R740C|GRM4_ENST00000544773.2_Missense_Mutation_p.R687C|GRM4_ENST00000455714.2_Missense_Mutation_p.R716C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.R856C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	856					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTGCGCTTGCGCTTGGGCACG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18037	0.001		0.0	False		,,,				2504	0.0					ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2566-2568)Cgc>Tgc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	100.0	106.0		2566	4.2	1.0	6		106	0,8600		0,0,4300	no	missense	GRM4	NM_000841.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	856/913	33996020	1,13005	2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:33996020G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2566C>T	6.37:g.33996020G>A	ENSP00000440556:p.Arg856Cys					GRM4_ENST00000545715.1_Missense_Mutation_p.R548C|GRM4_ENST00000455714.2_Missense_Mutation_p.R716C|GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000538487.1_Missense_Mutation_p.R856C|GRM4_ENST00000544773.1_Missense_Mutation_p.R687C|GRM4_ENST00000374177.3_Missense_Mutation_p.R740C	p.R856C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			9	2735	-			856					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2566C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059421	0.93846	2.27E-4	0.0	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.2;-2.25;-2.27;-2.45;-2.29	4.18	4.18	0.49190	GPCR, family 3, C-terminal (1);	0.306877	0.30630	N	0.009217	D	0.90480	0.7018	M	0.71206	2.165	0.80722	D	1	B;D;D;D;D	0.76494	0.175;0.972;0.999;0.997;0.989	B;P;P;P;P	0.56916	0.039;0.582;0.809;0.649;0.677	D	0.89596	0.3831	10	0.37606	T	0.19	.	16.6736	0.85273	0.0:0.0:1.0:0.0	.	809;687;716;856;723	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	856;740;548;723;687;856;716	ENSP00000363296:R856C;ENSP00000363292:R740C;ENSP00000445533:R548C;ENSP00000437925:R723C;ENSP00000437730:R687C;ENSP00000440556:R856C;ENSP00000398456:R716C	ENSP00000363292:R740C	R	-	1	0	GRM4	34103998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.370000	0.73114	2.160000	0.67779	0.478000	0.44815	CGC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			116	459	0	0	0	1	0	116	459				
PCDH12	51294	broad.mit.edu	37	5	141335291	141335291	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335291G>T	ENST00000231484.3	-	1	3336	c.2126C>A	c.(2125-2127)cCt>cAt	p.P709H	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	709	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGCCCCAGGCTTGCGGGC	0.587																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2125-2127)cCt>cAt		protocadherin 12							51.0	42.0	45.0					5																	141335291		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335291G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2126C>A	5.37:g.141335291G>T	ENSP00000231484:p.Pro709His						p.P709H	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3336	-		all_hematologic(541;0.0999)	709			Cadherin 6.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2126C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	1.156	-0.645319	0.03531	.	.	ENSG00000113555	ENST00000231484	T	0.56275	0.47	5.3	3.47	0.39725	Cadherin (1);	0.379762	0.27677	N	0.018320	T	0.50343	0.1610	M	0.67953	2.075	0.09310	N	1	P	0.52842	0.956	B	0.43916	0.436	T	0.50110	-0.8866	10	0.72032	D	0.01	.	8.0716	0.30693	0.0838:0.0:0.7579:0.1584	.	709	Q9NPG4	PCD12_HUMAN	H	709	ENSP00000231484:P709H	ENSP00000231484:P709H	P	-	2	0	PCDH12	141315475	0.210000	0.23517	0.010000	0.14722	0.152000	0.21847	3.035000	0.49759	0.776000	0.33473	0.655000	0.94253	CCT		0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	132	1	0	0.0215528	1	0.0216335	5	132				
TCN2	6948	broad.mit.edu	37	22	31011441	31011441	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011441G>T	ENST00000215838.3	+	5	1228	c.734G>T	c.(733-735)aGc>aTc	p.S245I	TCN2_ENST00000405742.3_Missense_Mutation_p.S241I|TCN2_ENST00000407817.3_Missense_Mutation_p.S218I			P20062	TCO2_HUMAN	transcobalamin II	245					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTACAGCACCCCATTG	0.597																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(733-735)aGc>aTc		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63.0	56.0	58.0					22																	31011441		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011441G>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.734G>T	22.37:g.31011441G>T	ENSP00000215838:p.Ser245Ile					TCN2_ENST00000407817.3_Missense_Mutation_p.S218I|TCN2_ENST00000405742.3_Missense_Mutation_p.S241I	p.S245I			P20062	TCO2_HUMAN			5	1228	+			245					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.734G>T	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510442	0.64522	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.49139	0.79;0.79;0.79	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.75505	-0.3294	10	0.87932	D	0	-30.1398	17.0097	0.86403	0.0:0.0:1.0:0.0	.	218;241;245	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	I	245;241;218	ENSP00000215838:S245I;ENSP00000385914:S241I;ENSP00000384914:S218I	ENSP00000215838:S245I	S	+	2	0	TCN2	29341441	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.643000	0.67895	2.756000	0.94617	0.561000	0.74099	AGC		0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		39	256	1	0	8.69298e-16	1	9.51602e-16	39	256				
APBB3	10307	broad.mit.edu	37	5	139938323	139938323	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139938323C>A	ENST00000357560.4	-	13	1751	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.K213N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	436	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTCCGCTTGAGCCGCA	0.662																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1306-1308)aaG>aaT		amyloid beta (A4) precursor protein-binding, family B, member 3							27.0	32.0	30.0					5																	139938323		2199	4294	6493	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139938323C>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1308G>T	5.37:g.139938323C>A	ENSP00000350171:p.Lys436Asn					APBB3_ENST00000508496.2_Missense_Mutation_p.K213N|APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N|APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|APBB3_ENST00000358580.5_3'UTR	p.K436N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1751	-			436			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1308G>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601921	0.66445	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.52057	1.69;1.69;1.7;0.68;1.7	4.76	2.93	0.34026	.	0.567069	0.17031	N	0.189702	T	0.40398	0.1115	L	0.44542	1.39	0.80722	D	1	D;P	0.55800	0.973;0.943	P;P	0.47864	0.559;0.522	T	0.21008	-1.0258	9	.	.	.	-7.5614	4.3405	0.11108	0.0:0.6128:0.2073:0.1799	.	434;441	O95704-2;O95704-3	.;.	N	441;443;436;213;434	ENSP00000349177:K441N;ENSP00000346378:K443N;ENSP00000350171:K436N;ENSP00000444013:K213N;ENSP00000402591:K434N	.	K	-	3	2	APBB3	139918507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.707000	0.37888	0.973000	0.38340	0.455000	0.32223	AAG		0.662	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		36	352	1	0	1.45844e-13	1	1.57644e-13	36	352				
TMEM97	27346	broad.mit.edu	37	17	26653722	26653722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26653722C>T	ENST00000226230.6	+	3	579	c.434C>T	c.(433-435)tCt>tTt	p.S145F	TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F|TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	145					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACCCTTGTGTCTGTCTATGCC	0.408																																						ENST00000226230.6																			0				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(433-435)tCt>tTt		transmembrane protein 97							124.0	92.0	103.0					17																	26653722		2203	4300	6503	SO:0001583	missense	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653722C>T	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.434C>T	17.37:g.26653722C>T	ENSP00000226230:p.Ser145Phe					TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F|TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F	p.S145F	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	579	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		145					B4DS02|Q07823	Missense_Mutation	SNP	ENST00000226230.6	37	c.434C>T	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267767	0.10294	.	.	ENSG00000109084	ENST00000226230;ENST00000336687	.	.	.	5.93	2.77	0.32553	.	0.293339	0.44483	N	0.000449	T	0.59797	0.2220	M	0.74647	2.275	0.26200	N	0.979468	D	0.61080	0.989	P	0.58077	0.832	T	0.54036	-0.8353	9	0.46703	T	0.11	-1.5154	10.3922	0.44179	0.0:0.6064:0.3204:0.0732	.	145	Q5BJF2	TMM97_HUMAN	F	145;38	.	ENSP00000226230:S145F	S	+	2	0	TMEM97	23677849	0.121000	0.22262	0.000000	0.03702	0.021000	0.10359	2.413000	0.44618	0.359000	0.24239	-0.175000	0.13238	TCT		0.408	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		49	185	0	0	0	1	0	49	185				
SLC24A1	9187	broad.mit.edu	37	15	65917907	65917907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65917907G>A	ENST00000261892.6	+	2	1776	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	SLC24A1_ENST00000544319.2_Missense_Mutation_p.A497T|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A497T|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A497T	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	497					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A497T(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCAGGCGCCACATTCAT	0.557																																						ENST00000261892.6																			1	Substitution - Missense(1)	p.A497T(1)	endometrium(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1489-1491)Gcc>Acc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							124.0	132.0	129.0					15																	65917907		2059	4222	6281	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917907G>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1489G>A	15.37:g.65917907G>A	ENSP00000261892:p.Ala497Thr					SLC24A1_ENST00000339868.6_Missense_Mutation_p.A497T|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A497T|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A497T|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A497T	p.A497T	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	1776	+			497					O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.1489G>A	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329097	0.95733	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.39	5.39	0.77823	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	H	0.95850	3.73	0.80722	D	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;1.0;0.999;1.0	D	0.90079	0.4169	10	0.87932	D	0	.	18.3245	0.90248	0.0:0.0:1.0:0.0	.	497;497;497;497;497	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	T	497	ENSP00000439693:A497T;ENSP00000261892:A497T;ENSP00000341837:A497T;ENSP00000445163:A497T;ENSP00000381991:A497T;ENSP00000439190:A497T	ENSP00000261892:A497T	A	+	1	0	SLC24A1	63704961	1.000000	0.71417	0.643000	0.29450	0.893000	0.52053	9.596000	0.98267	2.808000	0.96608	0.561000	0.74099	GCC		0.557	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		114	333	0	0	0	1	0	114	333				
MAP4K3	8491	broad.mit.edu	37	2	39494335	39494335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39494335C>T	ENST00000263881.3	-	27	2351	c.2027G>A	c.(2026-2028)tGt>tAt	p.C676Y	MAP4K3_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	676	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTTACCAACACAACACTTCTG	0.383																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2026-2028)tGt>tAt		mitogen-activated protein kinase kinase kinase kinase 3							141.0	140.0	141.0					2																	39494335		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39494335C>T	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2027G>A	2.37:g.39494335C>T	ENSP00000263881:p.Cys676Tyr					MAP4K3_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y|MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y	p.C676Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			27	2351	-		all_hematologic(82;0.211)	676			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2027G>A	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332204	0.81801	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.42	5.42	0.78866	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.983;1.0	T	0.02553	-1.1142	10	0.66056	D	0.02	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	655;676	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	Y	676;592;655;229	ENSP00000263881:C676Y;ENSP00000416958:C592Y;ENSP00000345434:C655Y;ENSP00000440580:C229Y	ENSP00000263881:C676Y	C	-	2	0	MAP4K3	39347839	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.267000	0.78462	2.691000	0.91804	0.655000	0.94253	TGT		0.383	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		13	515	0	0	0	1	0	13	515				
TNC	3371	broad.mit.edu	37	9	117849189	117849189	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117849189A>C	ENST00000350763.4	-	3	1232	c.821T>G	c.(820-822)tTt>tGt	p.F274C	TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C|TNC_ENST00000537320.1_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	274	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATCGCCTGCAAAGCCATCGTG	0.577																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(820-822)tTt>tGt		tenascin C							175.0	127.0	143.0					9																	117849189		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849189A>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.821T>G	9.37:g.117849189A>C	ENSP00000265131:p.Phe274Cys					TNC_ENST00000537320.1_Missense_Mutation_p.F274C|TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C|TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C	p.F274C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1232	-			274			EGF-like 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.821T>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549785	0.27652	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.13	3.99	0.46301	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.150285	0.64402	D	0.000009	T	0.37945	0.1022	M	0.83012	2.62	0.48040	D	0.999571	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.24799	-1.0150	10	0.87932	D	0	.	10.3736	0.44068	0.9228:0.0:0.0772:0.0	.	274;274	E9PC84;P24821	.;TENA_HUMAN	C	274	ENSP00000344400:F274C;ENSP00000438152:F274C;ENSP00000344555:F274C;ENSP00000345861:F274C;ENSP00000265131:F274C;ENSP00000339553:F274C;ENSP00000411406:F274C;ENSP00000443478:F274C;ENSP00000442242:F274C	ENSP00000344400:F274C	F	-	2	0	TNC	116889010	0.991000	0.36638	0.873000	0.34254	0.049000	0.14656	3.069000	0.50026	1.075000	0.40932	0.460000	0.39030	TTT		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		81	435	0	0	0	1	0	81	435				
OR1L1	26737	broad.mit.edu	37	9	125423951	125423951	+	Missense_Mutation	SNP	G	G	A	rs368414553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125423951G>A	ENST00000373686.1	+	1	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K	OR1L1_ENST00000309623.1_5'Flank			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GATGTTGGAAGAATCTGTTAC	0.343																																						ENST00000373686.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(106-108)aGa>aAa		olfactory receptor, family 1, subfamily L, member 1							87.0	89.0	89.0					9																	125423951		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125423951G>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.107G>A	9.37:g.125423951G>A	ENSP00000362790:p.Arg36Lys						p.R36K			Q8NH94	OR1L1_HUMAN			1	107	+			36					Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.107G>A		.	.	.	.	.	.	.	.	.	.	G	9.275	1.046613	0.19748	.	.	ENSG00000173679	ENST00000373686	T	0.00032	8.88	2.87	-2.74	0.05932	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06041	-1.0849	8	0.06494	T	0.89	.	5.6596	0.17662	0.6407:0.0:0.2074:0.1519	.	36	Q8NH94	OR1L1_HUMAN	K	36	ENSP00000362790:R36K	ENSP00000362790:R36K	R	+	2	0	OR1L1	124463772	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.408000	0.02485	-0.656000	0.05380	0.313000	0.20887	AGA		0.343	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				32	272	0	0	0	1	0	32	272				
RETSAT	54884	broad.mit.edu	37	2	85578815	85578815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85578815C>T	ENST00000295802.4	-	2	455	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	115					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTGTCAAATTCAAGGCCATTC	0.507																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(343-345)Gaa>Aaa		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						138.0	121.0	127.0					2																	85578815		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85578815C>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.343G>A	2.37:g.85578815C>T	ENSP00000295802:p.Glu115Lys					RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K	p.E115K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			2	455	-			115					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.343G>A	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690342	0.96793	.	.	ENSG00000042445	ENST00000295802;ENST00000263854	T;T	0.58506	0.33;0.33	5.38	5.38	0.77491	.	0.056021	0.64402	D	0.000001	T	0.55986	0.1955	N	0.10945	0.07	0.80722	D	1	P	0.48503	0.911	P	0.57244	0.816	T	0.63857	-0.6542	10	0.62326	D	0.03	-13.4847	16.6368	0.85061	0.0:1.0:0.0:0.0	.	115	Q6NUM9	RETST_HUMAN	K	115	ENSP00000295802:E115K;ENSP00000263854:E115K	ENSP00000263854:E115K	E	-	1	0	RETSAT	85432326	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.637000	0.83313	2.532000	0.85374	0.655000	0.94253	GAA		0.507	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		166	468	0	0	0	1	0	166	468				
NEB	4703	broad.mit.edu	37	2	152520341	152520341	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152520341T>G	ENST00000172853.10	-	45	5631	c.5484A>C	c.(5482-5484)aaA>aaC	p.K1828N	NEB_ENST00000603639.1_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000397345.3_Missense_Mutation_p.K1828N|NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000427231.2_Missense_Mutation_p.K1828N			P20929	NEBU_HUMAN	nebulin	1828					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGTTTCCCTTTGGCTTGTT	0.448																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5482-5484)aaA>aaC		nebulin							77.0	76.0	76.0					2																	152520341		1894	4126	6020	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152520341T>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5484A>C	2.37:g.152520341T>G	ENSP00000172853:p.Lys1828Asn					NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000603639.1_Missense_Mutation_p.K1828N|NEB_ENST00000172853.10_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000427231.2_Missense_Mutation_p.K1828N	p.K1828N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	45	5686	-			1828					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5484A>C		.	.	.	.	.	.	.	.	.	.	T	20.4	3.985387	0.74474	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.55	4.39	0.52855	.	0.104362	0.64402	D	0.000003	T	0.74711	0.3752	M	0.74467	2.265	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	T	0.76055	-0.3099	10	0.49607	T	0.09	.	11.1655	0.48541	0.0:0.0721:0.0:0.9279	.	1828	P20929	NEBU_HUMAN	N	1828	ENSP00000386259:K1828N;ENSP00000380505:K1828N;ENSP00000416578:K1828N;ENSP00000172853:K1828N	ENSP00000172853:K1828N	K	-	3	2	NEB	152228587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.756000	0.38390	2.237000	0.73441	0.528000	0.53228	AAA		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		57	258	0	0	0	1	0	57	258				
DNAH7	56171	broad.mit.edu	37	2	196788367	196788367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196788367G>A	ENST00000312428.6	-	23	3877	c.3777C>T	c.(3775-3777)agC>agT	p.S1259S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1259	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGAGTCATCGCTAATATTTT	0.403																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3775-3777)agC>agT		dynein, axonemal, heavy chain 7							99.0	92.0	94.0					2																	196788367		1910	4143	6053	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788367G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3777C>T	2.37:g.196788367G>A							p.S1259S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3877	-			1259			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.3777C>T	CCDS42794.1																																																																																				0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		51	276	0	0	0	1	0	51	276				
MRPL48	51642	broad.mit.edu	37	11	73575366	73575366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73575366G>A	ENST00000310614.7	+	8	1246	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q|MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q|MRPL48_ENST00000314282.7_Missense_Mutation_p.R98Q|MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	197						mitochondrial ribosome (GO:0005761)				kidney(1)	1						TTCAAGGGACGATTCAAAGCT	0.433																																						ENST00000314282.7																			0				kidney(1)	1						c.(292-294)cGa>cAa		mitochondrial ribosomal protein L48							67.0	61.0	63.0					11																	73575366		1868	4112	5980	SO:0001583	missense	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73575366G>A	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.590G>A	11.37:g.73575366G>A	ENSP00000308717:p.Arg197Gln					MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q|MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q|MRPL48_ENST00000310614.7_Missense_Mutation_p.R197Q|MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q	p.R98Q			Q96GC5	RM48_HUMAN			5	1644	+			197					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	37	c.293G>A	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521329	0.96416	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000542303;ENST00000314282	T;T	0.64618	0.05;-0.11	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82768	-0.0294	10	0.72032	D	0.01	-38.8651	18.0523	0.89353	0.0:0.0:1.0:0.0	.	179;197	B4DN34;Q96GC5	.;RM48_HUMAN	Q	197;179;98;98;106;98	ENSP00000308717:R197Q;ENSP00000443685:R106Q	ENSP00000308717:R197Q	R	+	2	0	MRPL48	73253014	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.613000	0.82986	2.937000	0.99478	0.650000	0.86243	CGA		0.433	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		19	104	0	0	0	1	0	19	104				
MUC16	94025	broad.mit.edu	37	19	8997154	8997154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8997154C>T	ENST00000397910.4	-	60	41245	c.41042G>A	c.(41041-41043)gGc>gAc	p.G13681D	MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13683	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACAGAGGGCCAACACTGGT	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41041-41043)gGc>gAc		mucin 16, cell surface associated							112.0	92.0	98.0					19																	8997154		1988	4166	6154	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997154C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41042G>A	19.37:g.8997154C>T	ENSP00000381008:p.Gly13681Asp					MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	p.G13681D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			60	41245	-			13683	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41042G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.24|13.24	2.178015|2.178015	0.38511|0.38511	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.39592	.|1.07;1.07	2.76|2.76	1.68|1.68	0.24146|0.24146	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.64091|0.64091	0.2567|0.2567	M|M	0.88105|0.88105	2.93|2.93	.|.	.|.	.|.	.|D;D	.|0.89917	.|0.997;1.0	.|P;D	.|0.85130	.|0.874;0.997	T|T	0.69383|0.69383	-0.5160|-0.5160	4|8	.|0.54805	.|T	.|0.06	-12.8308|-12.8308	6.5941|6.5941	0.22664|0.22664	0.3266:0.6734:0.0:0.0|0.3266:0.6734:0.0:0.0	.|.	.|21326;13681	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|D	521|13681;322	.|ENSP00000381008:G13681D;ENSP00000370338:G322D	.|ENSP00000370338:G322D	A|G	-|-	1|2	0|0	MUC16|MUC16	8858154|8858154	0.073000|0.073000	0.21202|0.21202	0.002000|0.002000	0.10522|0.10522	0.098000|0.098000	0.18820|0.18820	1.582000|1.582000	0.36568|0.36568	0.661000|0.661000	0.30985|0.30985	0.400000|0.400000	0.26472|0.26472	GCC|GGC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		62	285	0	0	0	1	0	62	285				
OSBPL1A	114876	broad.mit.edu	37	18	21758017	21758017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21758017C>A	ENST00000319481.3	-	21	2259	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*|OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	685					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GGTTCTGCTTCTACACTCTTC	0.433																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2053-2055)Gaa>Taa		oxysterol binding protein-like 1A							143.0	124.0	130.0					18																	21758017		2203	4300	6503	SO:0001587	stop_gained	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21758017C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2053G>T	18.37:g.21758017C>A	ENSP00000320291:p.Glu685*					OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*|OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*	p.E685*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			21	2259	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		685					B7Z7D3|Q9BZF5|Q9NW87	Nonsense_Mutation	SNP	ENST00000319481.3	37	c.2053G>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	43	9.889204	0.99288	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.2574	19.9857	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	685;172;303	.	ENSP00000320291:E685X	E	-	1	0	OSBPL1A	20012015	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.081000	0.71309	2.724000	0.93272	0.655000	0.94253	GAA		0.433	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		74	313	1	0	1.2582e-26	1	1.451e-26	74	313				
TEX15	56154	broad.mit.edu	37	8	30695464	30695464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30695464C>A	ENST00000256246.2	-	3	7261	c.7187G>T	c.(7186-7188)gGc>gTc	p.G2396V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2396					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAAGTGAGCCAGGTAGTGA	0.388																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7186-7188)gGc>gTc		testis expressed 15							216.0	215.0	215.0					8																	30695464		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695464C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7187G>T	8.37:g.30695464C>A	ENSP00000256246:p.Gly2396Val						p.G2396V	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7261	-			2396						Missense_Mutation	SNP	ENST00000256246.2	37	c.7187G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396149	0.62177	.	.	ENSG00000133863	ENST00000256246	T	0.12774	2.65	4.4	-3.86	0.04230	.	1.595900	0.03684	N	0.245973	T	0.10937	0.0267	L	0.44542	1.39	0.22858	N	0.998647	B	0.26809	0.16	B	0.25291	0.059	T	0.30446	-0.9978	10	0.87932	D	0	.	1.8012	0.03071	0.1337:0.3029:0.1313:0.4321	.	2396	Q9BXT5	TEX15_HUMAN	V	2396	ENSP00000256246:G2396V	ENSP00000256246:G2396V	G	-	2	0	TEX15	30815006	0.000000	0.05858	0.001000	0.08648	0.533000	0.34776	-1.045000	0.03528	-1.018000	0.03363	0.462000	0.41574	GGC		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			212	924	1	0	3.59702e-68	1	4.56002e-68	212	924				
KLF11	8462	broad.mit.edu	37	2	10192541	10192541	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10192541C>A	ENST00000305883.1	+	4	1608	c.1446C>A	c.(1444-1446)atC>atA	p.I482I	KLF11_ENST00000540845.1_Silent_p.I465I|RP11-254F7.3_ENST00000607181.1_RNA|KLF11_ENST00000535335.1_Silent_p.I465I	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	482					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CCAAGAAGATCCCAGGCTGGC	0.612																																					Melanoma(56;431 1507 23687 50789)	ENST00000535335.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1393-1395)atC>atA		Kruppel-like factor 11							57.0	56.0	56.0					2																	10192541		2203	4300	6503	SO:0001819	synonymous_variant	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10192541C>A	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1446C>A	2.37:g.10192541C>A						KLF11_ENST00000540845.1_Silent_p.I465I|KLF11_ENST00000305883.1_Silent_p.I482I	p.I465I	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	4	1611	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		482					B4DZE7|Q9EPF4	Silent	SNP	ENST00000305883.1	37	c.1395C>A	CCDS1668.1																																																																																				0.612	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		72	206	1	0	5.98616e-33	1	7.08481e-33	72	206				
CATSPER4	378807	broad.mit.edu	37	1	26524884	26524884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26524884C>A	ENST00000456354.2	+	6	853	c.786C>A	c.(784-786)ggC>ggA	p.G262G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	262					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGACGGCTGGGTGGACA	0.562																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(784-786)ggC>ggA		cation channel, sperm associated 4							121.0	116.0	118.0					1																	26524884		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524884C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.786C>A	1.37:g.26524884C>A							p.G262G	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	853	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	262					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.786C>A	CCDS30645.1																																																																																				0.562	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		24	655	1	0	1.10923e-09	1	1.16946e-09	24	655				
OBSCN	84033	broad.mit.edu	37	1	228511297	228511297	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228511297C>T	ENST00000422127.1	+	56	15686	c.15642C>T	c.(15640-15642)ctC>ctT	p.L5214L	OBSCN_ENST00000284548.11_Silent_p.L5214L|OBSCN_ENST00000570156.2_Silent_p.L6171L|OBSCN_ENST00000366709.4_Silent_p.L2333L|OBSCN_ENST00000366707.4_Silent_p.L2848L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5214	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGCTCCGTGTGGACT	0.587																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18511-18513)ctC>ctT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							63.0	65.0	64.0					1																	228511297		2166	4269	6435	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511297C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15642C>T	1.37:g.228511297C>T						OBSCN_ENST00000284548.11_Silent_p.L5214L|OBSCN_ENST00000422127.1_Silent_p.L5214L|OBSCN_ENST00000366709.4_Silent_p.L2333L|OBSCN_ENST00000366707.4_Silent_p.L2848L	p.L6171L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			67	18587	+		Prostate(94;0.0405)	5214			Ig-like 53.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.18513C>T	CCDS58065.1																																																																																				0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	73	0	0	0	1	0	16	73				
EPHA5	2044	broad.mit.edu	37	4	66356255	66356255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356255G>A	ENST00000273854.3	-	5	1842	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.Y414Y|EPHA5_ENST00000511294.1_Silent_p.Y414Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	414	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCCGGGGAAGGTACCTGACAT	0.493										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1240-1242)taC>taT		EPH receptor A5							122.0	95.0	104.0					4																	66356255		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356255G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1242C>T	4.37:g.66356255G>A		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.Y414Y|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.Y414Y	p.Y414Y	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1842	-			414			Fibronectin type-III 1.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1242C>T	CCDS3513.1																																																																																				0.493	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		54	268	0	0	0	1	0	54	268				
B4GALNT4	338707	broad.mit.edu	37	11	377297	377297	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377297A>G	ENST00000329962.6	+	14	2174	c.2174A>G	c.(2173-2175)tAc>tGc	p.Y725C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	725					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCGCTCAGTACATGGAGCGG	0.701																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2173-2175)tAc>tGc		beta-1,4-N-acetyl-galactosaminyl transferase 4							14.0	9.0	11.0					11																	377297		2041	4043	6084	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:377297A>G	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2174A>G	11.37:g.377297A>G	ENSP00000328277:p.Tyr725Cys						p.Y725C	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	2174	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	725					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2174A>G	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	a	12.79	2.044333	0.36085	.	.	ENSG00000182272	ENST00000329962	T	0.15139	2.45	3.28	3.28	0.37604	.	0.081321	0.51477	D	0.000094	T	0.37376	0.1001	M	0.68952	2.095	0.41763	D	0.98972	D	0.76494	0.999	D	0.81914	0.995	T	0.28744	-1.0034	10	0.72032	D	0.01	-27.5924	12.0889	0.53713	1.0:0.0:0.0:0.0	.	725	Q76KP1	B4GN4_HUMAN	C	725	ENSP00000328277:Y725C	ENSP00000328277:Y725C	Y	+	2	0	B4GALNT4	367297	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.606000	0.54095	1.508000	0.48769	0.172000	0.16884	TAC		0.701	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		9	51	0	0	0	1	0	9	51				
INTS4	92105	broad.mit.edu	37	11	77639550	77639550	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77639550C>A	ENST00000534064.1	-	11	1243	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	INTS4_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	403					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGGGTGAAGACTGGGCCAACA	0.468																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1207-1209)caG>caT		integrator complex subunit 4							11.0	10.0	11.0					11																	77639550		2193	4259	6452	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77639550C>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1209G>T	11.37:g.77639550C>A	ENSP00000434466:p.Gln403His					INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H|INTS4_ENST00000525931.1_5'UTR	p.Q403H	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		11	1243	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		403					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.1209G>T	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992402	0.35131	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.42513	0.97;0.97	3.94	1.78	0.24846	Armadillo-like helical (1);Armadillo-type fold (1);	0.274188	0.37669	N	0.001990	T	0.33206	0.0855	L	0.44542	1.39	0.80722	D	1	P	0.40731	0.728	B	0.42959	0.403	T	0.03922	-1.0992	10	0.41790	T	0.15	-7.284	5.4601	0.16612	0.0:0.6191:0.1481:0.2328	.	403	Q96HW7	INT4_HUMAN	H	403;254;403	ENSP00000434466:Q403H;ENSP00000433644:Q403H	ENSP00000346913:Q254H	Q	-	3	2	INTS4	77317198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.863000	0.27913	0.284000	0.22305	0.471000	0.43371	CAG		0.468	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		21	81	1	0	1.10513e-12	1	1.18868e-12	21	81				
NOTCH2	4853	broad.mit.edu	37	1	120459014	120459014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120459014T>C	ENST00000256646.2	-	34	6550	c.6331A>G	c.(6331-6333)Acc>Gcc	p.T2111A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2111					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGCATGGTACTCTTGGCA	0.537			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(6331-6333)Acc>Gcc		notch 2							127.0	106.0	113.0					1																	120459014		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120459014T>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6331A>G	1.37:g.120459014T>C	ENSP00000256646:p.Thr2111Ala						p.T2111A	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	6550	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2111					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.6331A>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	1.298	-0.605717	0.03717	.	.	ENSG00000134250	ENST00000256646	D	0.81499	-1.5	5.71	-3.15	0.05233	.	0.615279	0.13441	N	0.387715	T	0.22399	0.0540	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	10	0.08179	T	0.78	.	13.4241	0.61015	0.0:0.4741:0.0:0.5259	.	2111	Q04721	NOTC2_HUMAN	A	2111	ENSP00000256646:T2111A	ENSP00000256646:T2111A	T	-	1	0	NOTCH2	120260537	0.000000	0.05858	0.134000	0.22075	0.927000	0.56198	-0.652000	0.05366	-0.590000	0.05866	0.459000	0.35465	ACC		0.537	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	333	0	0	0	1	0	10	333				
F5	2153	broad.mit.edu	37	1	169524540	169524540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524540G>T	ENST00000367797.3	-	7	1199	c.998C>A	c.(997-999)aCc>aAc	p.T333N	F5_ENST00000546081.1_Missense_Mutation_p.T196N|F5_ENST00000367796.3_Missense_Mutation_p.T333N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	333					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAGATTCCTGGTTTTCTTTGG	0.413																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(997-999)aCc>aAc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						105.0	99.0	101.0					1																	169524540		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169524540G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.998C>A	1.37:g.169524540G>T	ENSP00000356771:p.Thr333Asn					F5_ENST00000546081.1_Missense_Mutation_p.T196N|F5_ENST00000367797.3_Missense_Mutation_p.T333N	p.T333N			P12259	FA5_HUMAN			7	1199	-	all_hematologic(923;0.208)		333					A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.998C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295812	0.40594	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98849	-5.18;-5.18;-5.18	5.69	5.69	0.88448	Cupredoxin (1);	0.496516	0.23023	N	0.052831	D	0.97309	0.9120	L	0.28274	0.84	0.30198	N	0.798902	D	0.89917	1.0	D	0.69307	0.963	D	0.96481	0.9356	9	0.36615	T	0.2	-20.7416	10.324	0.43783	0.1456:0.0:0.8544:0.0	.	333	P12259	FA5_HUMAN	N	333;333;196	ENSP00000356771:T333N;ENSP00000356770:T333N;ENSP00000439664:T196N	ENSP00000356770:T333N	T	-	2	0	F5	167791164	0.993000	0.37304	0.969000	0.41365	0.836000	0.47400	2.382000	0.44345	2.701000	0.92244	0.644000	0.83932	ACC		0.413	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		106	278	1	0	6.20224e-59	1	7.78356e-59	106	278				
CLPTM1	1209	broad.mit.edu	37	19	45496135	45496135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45496135G>A	ENST00000337392.5	+	14	2140	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K|CLPTM1_ENST00000541297.2_Missense_Mutation_p.E650K	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	664					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AAAGCCAGCAGAGGACAAGAA	0.687																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1948-1950)Gag>Aag		cleft lip and palate associated transmembrane protein 1							42.0	47.0	45.0					19																	45496135		2202	4300	6502	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45496135G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1990G>A	19.37:g.45496135G>A	ENSP00000336994:p.Glu664Lys					CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K|CLPTM1_ENST00000337392.5_Missense_Mutation_p.E664K	p.E650K			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	14	2413	+		all_neural(266;0.224)|Ovarian(192;0.231)	664					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1948G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306244	0.60305	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392	.	.	.	5.11	2.96	0.34315	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.27186	N	0.960542	B;B	0.11235	0.0;0.004	B;B	0.09377	0.003;0.004	T	0.15378	-1.0439	8	0.42905	T	0.14	.	7.1091	0.25380	0.0916:0.1721:0.7363:0.0	.	650;664	F5H8J3;O96005	.;CLPT1_HUMAN	K	562;650;664	.	ENSP00000336994:E664K	E	+	1	0	CLPTM1	50187975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.229000	0.51278	0.737000	0.32582	0.650000	0.86243	GAG		0.687	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		12	261	0	0	0	1	0	12	261				
DMXL1	1657	broad.mit.edu	37	5	118484538	118484538	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118484538G>T	ENST00000311085.8	+	18	3096	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1006										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGAGTAACAGATGGAGAATC	0.383																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(3016-3018)Gat>Tat		Dmx-like 1							116.0	113.0	114.0					5																	118484538		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484538G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3016G>T	5.37:g.118484538G>T	ENSP00000309690:p.Asp1006Tyr					DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	p.D1006Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3096	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1006						Missense_Mutation	SNP	ENST00000311085.8	37	c.3016G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	4.261	0.047475	0.08243	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01422	4.91;4.91	5.5	-5.91	0.02269	.	2.186180	0.01385	N	0.013067	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.48906	-0.8993	10	0.66056	D	0.02	1.9386	3.4989	0.07665	0.3765:0.3392:0.1976:0.0868	.	1006;1006	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1006	ENSP00000309690:D1006Y;ENSP00000439479:D1006Y	ENSP00000309690:D1006Y	D	+	1	0	DMXL1	118512437	0.000000	0.05858	0.004000	0.12327	0.675000	0.39556	-0.644000	0.05415	-0.804000	0.04410	-0.878000	0.02970	GAT		0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		103	452	1	0	1.42366e-38	1	1.7169e-38	103	452				
LRRK2	120892	broad.mit.edu	37	12	40637414	40637414	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40637414A>G	ENST00000298910.7	+	7	827	c.769A>G	c.(769-771)Atg>Gtg	p.M257V	LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	257					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.M257V(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTGGAAGCTATGAAAGCATT	0.363																																						ENST00000298910.7																			2	Substitution - Missense(2)	p.M257V(2)	lung(2)	NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(769-771)Atg>Gtg		leucine-rich repeat kinase 2							191.0	177.0	182.0					12																	40637414		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40637414A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.769A>G	12.37:g.40637414A>G	ENSP00000298910:p.Met257Val					LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	p.M257V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			7	827	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	257					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.769A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893962	0.72639	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.64260	-0.09;1.36;1.36	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.59436	1.845	0.46131	D	0.998883	D	0.59767	0.986	D	0.70227	0.968	T	0.76558	-0.2915	10	0.54805	T	0.06	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	257	Q5S007	LRRK2_HUMAN	V	141;257;257	ENSP00000398726:M141V;ENSP00000341930:M257V;ENSP00000298910:M257V	ENSP00000298910:M257V	M	+	1	0	LRRK2	38923681	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.938000	0.70170	2.282000	0.76494	0.533000	0.62120	ATG		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		22	562	0	0	0	1	0	22	562				
OR4N2	390429	broad.mit.edu	37	14	20296207	20296207	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296207C>A	ENST00000315947.1	+	1	600	c.600C>A	c.(598-600)gtC>gtA	p.V200V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTGATGGTCTTCAACAGTG	0.512																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(598-600)gtC>gtA		olfactory receptor, family 4, subfamily N, member 2							144.0	143.0	143.0					14																	20296207		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296207C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.600C>A	14.37:g.20296207C>A						OR4N2_ENST00000568211.1_3'UTR	p.V200V	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	600	+	all_cancers(95;0.00108)		200					Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.600C>A	CCDS32022.1																																																																																				0.512	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			22	884	1	0	3.62473e-10	1	3.83521e-10	22	884				
ZNF41	7592	broad.mit.edu	37	X	47307548	47307548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307548G>A	ENST00000377065.4	-	5	2260	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTCTGGTGTTTAATGAGA	0.413																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1621-1623)Cac>Tac		zinc finger protein 41							94.0	88.0	90.0					X																	47307548		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307548G>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1621C>T	X.37:g.47307548G>A	ENSP00000366265:p.His541Tyr					ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y	p.H541Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	2260	-		all_lung(315;0.000129)	583					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1621C>T	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005915	0.54254	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.86769	-2.17;-2.17;-2.17	3.98	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37219	N	0.002200	D	0.94450	0.8214	H	0.95816	3.725	0.25229	N	0.989845	P;P;D;P;P	0.89917	0.635;0.635;1.0;0.817;0.848	B;B;D;B;P	0.83275	0.175;0.175;0.996;0.239;0.485	D	0.87312	0.2312	10	0.87932	D	0	.	8.9846	0.35986	0.115:0.0:0.885:0.0	.	541;543;551;575;583	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Y	541;541;551	ENSP00000315173:H541Y;ENSP00000366265:H541Y;ENSP00000380243:H551Y	ENSP00000315173:H541Y	H	-	1	0	ZNF41	47192492	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.789000	0.75110	1.035000	0.39972	0.600000	0.82982	CAC		0.413	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		80	307	0	0	0	1	0	80	307				
ISOC2	79763	broad.mit.edu	37	19	55964733	55964733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55964733G>A	ENST00000425675.2	-	6	620	c.560C>T	c.(559-561)cCc>cTc	p.P187L	ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L|ISOC2_ENST00000438389.2_Missense_Mutation_p.P117L			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	187					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GTCTGGGGCGGGCTCCTTGAT	0.602																																						ENST00000438389.2																			0				endometrium(1)|lung(4)|ovary(1)|stomach(1)	7						c.(349-351)cCc>cTc		isochorismatase domain containing 2							73.0	72.0	72.0					19																	55964733		2203	4300	6503	SO:0001583	missense	79763				protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	g.chr19:55964733G>A	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.560C>T	19.37:g.55964733G>A	ENSP00000401726:p.Pro187Leu					ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L|ISOC2_ENST00000425675.2_Missense_Mutation_p.P187L	p.P117L	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)	5	1184	-	Breast(117;0.155)		187					Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	c.350C>T	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854128	0.51270	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.59	4.59	0.56863	Isochorismatase-like (2);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	N	0.17474	0.49	0.80722	D	1	B;B;B	0.29766	0.144;0.256;0.165	B;B;B	0.32928	0.155;0.043;0.044	T	0.42137	-0.9469	9	0.37606	T	0.19	-9.5899	15.2799	0.73773	0.0:0.0:1.0:0.0	.	117;187;203	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	L	203;187;117	.	ENSP00000085068:P203L	P	-	2	0	ISOC2	60656545	1.000000	0.71417	0.932000	0.37286	0.660000	0.38997	8.136000	0.89610	2.275000	0.75901	0.555000	0.69702	CCC		0.602	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		21	107	0	0	0	1	0	21	107				
C4orf50	389197	broad.mit.edu	37	4	5975525	5975525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5975525C>T	ENST00000324058.5	-	4	358	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C4orf50_ENST00000531445.1_Missense_Mutation_p.R564H			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	90										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGTGATCAGGCGGTTCCTCTC	0.632																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1690-1692)cGc>cAc		chromosome 4 open reading frame 50							69.0	62.0	64.0					4																	5975525		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5975525C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.269G>A	4.37:g.5975525C>T	ENSP00000317287:p.Arg90His					C4orf50_ENST00000324058.5_Missense_Mutation_p.R90H	p.R564H			Q6ZRC1	CD050_HUMAN			4	1737	-			90						Missense_Mutation	SNP	ENST00000324058.5	37	c.1691G>A		.	.	.	.	.	.	.	.	.	.	C	0.172	-1.070634	0.01918	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.23552	1.9;1.9	4.6	-8.19	0.01049	.	1.351300	0.05126	N	0.491658	T	0.05227	0.0139	N	0.00729	-1.24	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25950	-1.0117	10	0.14656	T	0.56	-2.3071	3.5234	0.07751	0.1109:0.4458:0.1113:0.332	.	90	Q6ZRC1	CD050_HUMAN	H	564;90	ENSP00000437121:R564H;ENSP00000317287:R90H	ENSP00000317287:R90H	R	-	2	0	C4orf50	6026426	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.011000	0.01452	-1.989000	0.00979	-0.254000	0.11334	CGC		0.632	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		16	320	0	0	0	1	0	16	320				
GRASP	160622	broad.mit.edu	37	12	52407526	52407526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52407526G>T	ENST00000293662.4	+	5	590	c.510G>T	c.(508-510)gaG>gaT	p.E170D	GRASP_ENST00000552049.1_Missense_Mutation_p.E27D|GRASP_ENST00000380039.2_Missense_Mutation_p.E27D|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	170	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCATCGAGAGATTGTGGACA	0.552																																						ENST00000293662.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(508-510)gaG>gaT		GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein							121.0	109.0	113.0					12																	52407526		2203	4300	6503	SO:0001583	missense	160622					cell junction|perinuclear region of cytoplasm|postsynaptic membrane		g.chr12:52407526G>T	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.510G>T	12.37:g.52407526G>T	ENSP00000293662:p.Glu170Asp					GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Missense_Mutation_p.E27D|GRASP_ENST00000380039.2_Missense_Mutation_p.E27D	p.E170D	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	5	590	+			170			PDZ.		Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	37	c.510G>T	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306148	0.40795	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T;T;T	0.48836	2.18;0.8;0.8;0.8	5.09	3.21	0.36854	PDZ/DHR/GLGF (4);	0.103985	0.64402	D	0.000004	T	0.46151	0.1378	N	0.13299	0.325	0.45648	D	0.998574	D;D	0.76494	0.997;0.999	P;D	0.70016	0.885;0.967	T	0.38845	-0.9642	10	0.36615	T	0.2	-1.568	9.7665	0.40563	0.17:0.0:0.83:0.0	.	27;170	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	D	170;27;40;27	ENSP00000293662:E170D;ENSP00000449492:E27D;ENSP00000448476:E40D;ENSP00000369378:E27D	ENSP00000293662:E170D	E	+	3	2	GRASP	50693793	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.218000	0.32467	1.365000	0.46057	0.462000	0.41574	GAG		0.552	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			16	475	1	0	2.48551e-13	1	2.68178e-13	16	475				
PLBD2	196463	broad.mit.edu	37	12	113810480	113810480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113810480G>A	ENST00000280800.3	+	3	442	c.411G>A	c.(409-411)acG>acA	p.T137T	PLBD2_ENST00000545182.2_Silent_p.T137T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	137					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGATGAACACGGTGGTGAATT	0.612																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(409-411)acG>acA		phospholipase B domain containing 2							110.0	109.0	110.0					12																	113810480		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113810480G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.411G>A	12.37:g.113810480G>A						PLBD2_ENST00000545182.2_Silent_p.T137T	p.T137T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			3	442	+			137					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.411G>A	CCDS9168.1																																																																																				0.612	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		140	796	0	0	0	1	0	140	796				
DYNC1I1	1780	broad.mit.edu	37	7	95657489	95657489	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95657489C>A	ENST00000324972.6	+	11	1216	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	DYNC1I1_ENST00000359388.4_Silent_p.S304S|DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000437599.1_Silent_p.S321S|DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000537881.1_Silent_p.S304S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	341					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCTGACAGTCCTCTGTGATGT	0.478																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1021-1023)tcC>tcA		dynein, cytoplasmic 1, intermediate chain 1							219.0	198.0	205.0					7																	95657489		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95657489C>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1023C>A	7.37:g.95657489C>A						DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000537881.1_Silent_p.S304S|DYNC1I1_ENST00000359388.4_Silent_p.S304S|DYNC1I1_ENST00000437599.1_Silent_p.S321S	p.S341S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		11	1216	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		341					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1023C>A	CCDS5644.1																																																																																				0.478	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		181	761	1	0	9.03655e-77	1	1.15342e-76	181	761				
BRCA2	675	broad.mit.edu	37	13	32911541	32911541	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32911541A>T	ENST00000380152.3	+	11	3282	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F	BRCA2_ENST00000544455.1_Missense_Mutation_p.I1017F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1017					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATAAGGAAATCAAGCTCTC	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(3049-3051)Atc>Ttc	Homologous recombination	breast cancer 2, early onset							43.0	47.0	46.0					13																	32911541		2203	4295	6498	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911541A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3049A>T	13.37:g.32911541A>T	ENSP00000369497:p.Ile1017Phe	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.I1017F	p.I1017F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3276	+		Lung SC(185;0.0262)	1017					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3049A>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132024	0.77662	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.77877	-1.13;-1.13	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	D	0.83571	0.5283	L	0.36672	1.1	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.85389	0.1124	10	0.87932	D	0	.	16.3468	0.83138	1.0:0.0:0.0:0.0	.	1017	P51587	BRCA2_HUMAN	F	1017	ENSP00000369497:I1017F;ENSP00000439902:I1017F	ENSP00000369497:I1017F	I	+	1	0	BRCA2	31809541	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.875000	0.75551	2.263000	0.75096	0.529000	0.55759	ATC		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		53	215	0	0	0	1	0	53	215				
TMCO3	55002	broad.mit.edu	37	13	114156189	114156189	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114156189T>C	ENST00000434316.2	+	5	1298	c.939T>C	c.(937-939)agT>agC	p.S313S	TMCO3_ENST00000375391.1_Silent_p.S313S|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	313						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACTAAATAGTATTAAGGTAA	0.343																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(937-939)agT>agC		transmembrane and coiled-coil domains 3							115.0	112.0	113.0					13																	114156189		2203	4300	6503	SO:0001819	synonymous_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114156189T>C	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.939T>C	13.37:g.114156189T>C						TMCO3_ENST00000375391.1_Silent_p.S313S|TMCO3_ENST00000474393.1_3'UTR	p.S313S	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		5	1298	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	313					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	c.939T>C	CCDS9537.1																																																																																				0.343	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		85	312	0	0	0	1	0	85	312				
ABCC10	89845	broad.mit.edu	37	6	43400424	43400424	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400424G>T	ENST00000372530.4	+	3	921	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.G193W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	236					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCTGGCCCGTGGGGCCTGTGG	0.637																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(577-579)Ggg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							42.0	44.0	43.0					6																	43400424		2202	4300	6502	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400424G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.706G>T	6.37:g.43400424G>T	ENSP00000361608:p.Gly236Trp					ABCC10_ENST00000372530.4_Missense_Mutation_p.G236W|ABCC10_ENST00000443426.2_Intron	p.G193W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	936	+	all_lung(25;0.00536)		236					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.577G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458568	0.84317	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.95690	-3.78;-3.66	5.54	5.54	0.83059	.	0.056809	0.64402	D	0.000001	D	0.96156	0.8747	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96918	0.9672	10	0.87932	D	0	-37.4308	19.4753	0.94985	0.0:0.0:1.0:0.0	.	193;236	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	236;193	ENSP00000361608:G236W;ENSP00000244533:G193W	ENSP00000244533:G193W	G	+	1	0	ABCC10	43508402	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.799000	0.99117	2.607000	0.88179	0.561000	0.74099	GGG		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		84	388	1	0	4.05715e-38	1	4.88277e-38	84	388				
KIF13B	23303	broad.mit.edu	37	8	29004938	29004938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29004938C>A	ENST00000524189.1	-	17	2033	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	665					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTAAGCGTTGCTGAGCGCTGG	0.552																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(1993-1995)caG>caT		kinesin family member 13B							38.0	36.0	37.0					8																	29004938		1950	4164	6114	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29004938C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1995G>T	8.37:g.29004938C>A	ENSP00000427900:p.Gln665His					KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	p.Q665H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	17	2033	-		Ovarian(32;0.000536)	665					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1995G>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391408	0.25118	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.72051	-0.62;-0.62	5.51	2.53	0.30540	.	0.055724	0.64402	D	0.000001	T	0.57257	0.2041	L	0.34521	1.04	0.80722	D	1	B;B	0.24092	0.097;0.045	B;B	0.23852	0.017;0.049	T	0.49995	-0.8879	10	0.49607	T	0.09	.	9.5339	0.39211	0.0:0.6796:0.0:0.3204	.	665;665	Q9NQT8;F8VPJ2	KI13B_HUMAN;.	H	665	ENSP00000427900:Q665H;ENSP00000429201:Q665H	ENSP00000429201:Q665H	Q	-	3	2	KIF13B	29060857	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	1.240000	0.32731	0.214000	0.20742	0.563000	0.77884	CAG		0.552	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			18	66	1	0	2.4624e-09	1	2.59004e-09	18	66				
SLC22A12	116085	broad.mit.edu	37	11	64359294	64359294	+	Missense_Mutation	SNP	G	G	A	rs201567912		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64359294G>A	ENST00000377574.1	+	1	1013	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H|SLC22A12_ENST00000473690.1_5'UTR	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	89					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CACCAGTGCCGCCGCTTCCGC	0.667																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(265-267)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 12							23.0	27.0	26.0					11																	64359294		2196	4294	6490	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359294G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.266G>A	11.37:g.64359294G>A	ENSP00000366797:p.Arg89His					SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89H	p.R89H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			1	1013	+			89					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.266G>A	CCDS8075.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.530	1.110479	0.20714	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.4	-3.38	0.04883	.	0.452831	0.22567	N	0.058382	T	0.14399	0.0348	L	0.58354	1.805	0.20196	N	0.999926	P;P;P;P	0.49253	0.809;0.809;0.921;0.809	B;B;B;B	0.43194	0.106;0.106;0.411;0.106	T	0.19679	-1.0298	10	0.28530	T	0.3	.	8.6014	0.33747	0.0809:0.0:0.2911:0.628	.	89;89;89;89	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	89	ENSP00000366790:R89H;ENSP00000366797:R89H;ENSP00000366795:R89H;ENSP00000336836:R89H	ENSP00000336836:R89H	R	+	2	0	SLC22A12	64115870	0.000000	0.05858	0.089000	0.20774	0.132000	0.20833	-0.585000	0.05794	-0.818000	0.04329	0.484000	0.47621	CGC		0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		48	244	0	0	0	1	0	48	244				
TGM1	7051	broad.mit.edu	37	14	24729006	24729006	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729006C>T	ENST00000206765.6	-	6	1011	c.888G>A	c.(886-888)ggG>ggA	p.G296G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	296					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CATCCAGCACCCCGTGGTCAA	0.627																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(886-888)ggG>ggA		transglutaminase 1	L-Glutamine(DB00130)						47.0	38.0	41.0					14																	24729006		2203	4300	6503	SO:0001819	synonymous_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729006C>T	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.888G>A	14.37:g.24729006C>T						TGM1_ENST00000544573.1_Intron	p.G296G	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	6	1011	-			296					B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	c.888G>A	CCDS9622.1																																																																																				0.627	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		6	153	0	0	0	1	0	6	153				
ZNF565	147929	broad.mit.edu	37	19	36673443	36673443	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36673443G>A	ENST00000355114.5	-	5	2271	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF565_ENST00000304116.5_Silent_p.Y475Y|ZNF565_ENST00000392173.2_Silent_p.Y475Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTCTACATTCGTAAGGTTTGA	0.418																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1543-1545)taC>taT		zinc finger protein 565							107.0	96.0	100.0					19																	36673443		2203	4300	6503	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673443G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1545C>T	19.37:g.36673443G>A						ZNF565_ENST00000392173.2_Silent_p.Y475Y|ZNF565_ENST00000304116.5_Silent_p.Y475Y	p.Y515Y			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	2271	-	Esophageal squamous(110;0.162)		475					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.1545C>T																																																																																					0.418	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		51	231	0	0	0	1	0	51	231				
SPTB	6710	broad.mit.edu	37	14	65241151	65241151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65241151C>T	ENST00000389721.5	-	23	4969	c.4937G>A	c.(4936-4938)cGg>cAg	p.R1646Q	SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000389722.3_Missense_Mutation_p.R1646Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1646					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCTGGGCCCGGCTGGCCAG	0.662																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4936-4938)cGg>cAg		spectrin, beta, erythrocytic							10.0	12.0	12.0					14																	65241151		2173	4273	6446	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65241151C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4937G>A	14.37:g.65241151C>T	ENSP00000374371:p.Arg1646Gln					SPTB_ENST00000389721.5_Missense_Mutation_p.R1646Q|SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1646Q	p.R1646Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	23	4990	-		all_lung(585;4.15e-09)	1646					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4937G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	6.939	0.543007	0.13250	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.39	5.39	0.77823	.	0.063876	0.64402	D	0.000005	T	0.21468	0.0517	N	0.11427	0.14	0.41463	D	0.988053	P;B;B	0.37636	0.603;0.356;0.306	B;B;B	0.20955	0.032;0.02;0.009	T	0.15636	-1.0430	10	0.16896	T	0.51	.	11.432	0.50047	0.0:0.916:0.0:0.084	.	430;1646;1650	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1650;1646;430;311;1646;1646;1646;1646	ENSP00000374372:R1646Q;ENSP00000451324:R311Q;ENSP00000451752:R1646Q;ENSP00000374371:R1646Q;ENSP00000443882:R1646Q;ENSP00000374370:R1646Q	ENSP00000334218:R430Q	R	-	2	0	SPTB	64310904	0.271000	0.24162	0.980000	0.43619	0.417000	0.31264	1.666000	0.37460	2.516000	0.84829	0.542000	0.68232	CGG		0.662	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			8	20	0	0	0	1	0	8	20				
SLC39A4	55630	broad.mit.edu	37	8	145640153	145640153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145640153G>T	ENST00000301305.3	-	5	1037	c.932C>A	c.(931-933)tCc>tAc	p.S311Y	SLC39A4_ENST00000276833.5_Missense_Mutation_p.S286Y|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	311					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTGGACTGGGAGGTGCAGGC	0.657																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(856-858)tCc>tAc		solute carrier family 39 (zinc transporter), member 4							43.0	46.0	45.0					8																	145640153		2203	4300	6503	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145640153G>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.932C>A	8.37:g.145640153G>T	ENSP00000301305:p.Ser311Tyr					SLC39A4_ENST00000301305.3_Missense_Mutation_p.S311Y	p.S286Y	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		4	1160	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		311					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.857C>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397820	0.25205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.61859	0.07;0.24	4.98	4.1	0.47936	.	1.088530	0.06917	N	0.808769	T	0.50990	0.1648	L	0.34521	1.04	0.09310	N	1	B;P	0.51653	0.012;0.947	B;P	0.47744	0.006;0.556	T	0.16748	-1.0392	10	0.06365	T	0.9	-17.042	11.0603	0.47944	0.0926:0.0:0.9074:0.0	.	311;286	Q6P5W5;A6NDY5	S39A4_HUMAN;.	Y	286;311	ENSP00000276833:S286Y;ENSP00000301305:S311Y	ENSP00000276833:S286Y	S	-	2	0	SLC39A4	145610961	0.000000	0.05858	0.255000	0.24374	0.009000	0.06853	0.145000	0.16157	1.115000	0.41800	0.543000	0.68304	TCC		0.657	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			70	365	1	0	1.74474e-33	1	2.06836e-33	70	365				
ZEB1	6935	broad.mit.edu	37	10	31810297	31810297	+	Missense_Mutation	SNP	A	A	C	rs146821579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31810297A>C	ENST00000320985.10	+	7	2144	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000446923.2_Missense_Mutation_p.Q662H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	678					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TAAATCTACAAAGTCCTTTGA	0.448																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1984-1986)caA>caC		zinc finger E-box binding homeobox 1		A	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	0,4406		0,0,2203	74.0	66.0	69.0		1986,1974,1983,1833,2037,2034	-6.0	0.0	10	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	ZEB1	NM_001128128.2,NM_001174093.1,NM_001174094.1,NM_001174095.1,NM_001174096.1,NM_030751.5	24,24,24,24,24,24	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	662/1109,658/1105,661/1108,611/1058,679/1126,678/1125	31810297	1,13005	2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810297A>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2034A>C	10.37:g.31810297A>C	ENSP00000319248:p.Gln678His					ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H|ZEB1_ENST00000320985.10_Missense_Mutation_p.Q678H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000559858.1_3'UTR	p.Q662H	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2377	+		Prostate(175;0.0156)	678					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1986A>C	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	4.696	0.129452	0.08981	0.0	1.16E-4	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12672	2.97;2.66;2.71;2.66;2.71	5.34	-6.03	0.02185	.	1.439760	0.04244	N	0.337441	T	0.18923	0.0454	L	0.51422	1.61	0.24957	N	0.991758	P;P;P;P;P;P;P;P	0.44478	0.836;0.755;0.761;0.761;0.641;0.748;0.761;0.761	P;P;B;B;B;B;B;B	0.47102	0.537;0.465;0.275;0.275;0.275;0.308;0.275;0.275	T	0.45131	-0.9282	10	0.62326	D	0.03	-3.8958	12.1316	0.53946	0.7633:0.0:0.1351:0.1016	.	611;678;662;678;678;658;679;678	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	460;678;679;678;611;678;658;537;569;662	ENSP00000444282:Q460H;ENSP00000354487:Q679H;ENSP00000444891:Q611H;ENSP00000319248:Q678H;ENSP00000391612:Q662H	ENSP00000319248:Q678H	Q	+	3	2	ZEB1	31850303	0.000000	0.05858	0.009000	0.14445	0.215000	0.24574	-1.025000	0.03600	-1.292000	0.02366	-0.242000	0.12053	CAA		0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		60	265	0	0	0	1	0	60	265				
STMN2	11075	broad.mit.edu	37	8	80549083	80549083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:80549083C>T	ENST00000220876.7	+	2	448	c.66C>T	c.(64-66)tgC>tgT	p.C22C	STMN2_ENST00000518111.1_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	22	Membrane attachment. {ECO:0000255}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CACTGATCTGCTCTTGCTTTT	0.393																																						ENST00000220876.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(64-66)tgC>tgT		stathmin-like 2							121.0	111.0	114.0					8																	80549083		1923	4156	6079	SO:0001819	synonymous_variant	11075				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	g.chr8:80549083C>T		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.66C>T	8.37:g.80549083C>T						STMN2_ENST00000518111.1_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C	p.C22C	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)		2	448	+	all_lung(9;8.34e-05)		22			Membrane attachment (Potential).		A8K9M2|G3V110|O14952|Q6PK68	Silent	SNP	ENST00000220876.7	37	c.66C>T	CCDS43748.1																																																																																				0.393	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		77	349	0	0	0	1	0	77	349				
KIAA1217	56243	broad.mit.edu	37	10	24820880	24820880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24820880C>T	ENST00000376454.3	+	15	3234	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000376451.2_Silent_p.G751G|KIAA1217_ENST00000376452.3_Silent_p.G1032G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000396445.1_Silent_p.G751G	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1068					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAGGTCAGGCGATGTGGTCT	0.577																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2251-2253)ggC>ggT		KIAA1217							66.0	53.0	58.0					10																	24820880		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24820880C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3204C>T	10.37:g.24820880C>T						KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000376454.3_Silent_p.G1068G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000376452.3_Silent_p.G1032G|KIAA1217_ENST00000396445.1_Silent_p.G751G	p.G751G			Q5T5P2	SKT_HUMAN			10	2513	+			1068					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.2253C>T	CCDS31165.1																																																																																				0.577	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		21	202	0	0	0	1	0	21	202				
JAKMIP2	9832	broad.mit.edu	37	5	147040937	147040937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147040937C>T	ENST00000265272.5	-	3	668	c.201G>A	c.(199-201)acG>acA	p.T67T	JAKMIP2_ENST00000333010.6_Silent_p.T25T|JAKMIP2_ENST00000507386.1_Silent_p.T67T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	67						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCAGCACCGTGTGCTTGC	0.493																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(199-201)acG>acA		janus kinase and microtubule interacting protein 2							145.0	134.0	137.0					5																	147040937		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147040937C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.201G>A	5.37:g.147040937C>T						JAKMIP2_ENST00000333010.6_Silent_p.T25T|JAKMIP2_ENST00000507386.1_Silent_p.T67T	p.T67T	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	668	-			67					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.201G>A	CCDS4285.1																																																																																				0.493	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		175	766	0	0	0	1	0	175	766				
ARHGAP6	395	broad.mit.edu	37	X	11157333	11157333	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11157333G>T	ENST00000337414.4	-	13	3447	c.2575C>A	c.(2575-2577)Ctg>Atg	p.L859M	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	859					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGCTCTGCAGCCCGGCCACA	0.706																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2575-2577)Ctg>Atg		Rho GTPase activating protein 6							9.0	9.0	9.0					X																	11157333		2167	4245	6412	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157333G>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2575C>A	X.37:g.11157333G>T	ENSP00000338967:p.Leu859Met					ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M	p.L859M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			13	3447	-			859					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.2575C>A	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944809	0.34283	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.24723	1.85;1.85;1.84	5.12	4.24	0.50183	.	1.112630	0.07024	N	0.827272	T	0.22437	0.0541	L	0.51422	1.61	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.34722	0.188;0.188	T	0.24119	-1.0169	10	0.45353	T	0.12	.	4.1956	0.10441	0.2167:0.0:0.5931:0.1901	.	859;859	O43182;A8KAL3	RHG06_HUMAN;.	M	656;656;859	ENSP00000370112:L656M;ENSP00000302312:L656M;ENSP00000338967:L859M	ENSP00000302312:L656M	L	-	1	2	ARHGAP6	11067254	0.088000	0.21588	0.626000	0.29213	0.025000	0.11179	1.709000	0.37909	2.116000	0.64780	0.594000	0.82650	CTG		0.706	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		20	69	1	0	3.99206e-14	1	4.32713e-14	20	69				
CNGA3	1261	broad.mit.edu	37	2	99013655	99013655	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99013655C>T	ENST00000272602.2	+	7	2061	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	CNGA3_ENST00000436404.2_Silent_p.D656D|CNGA3_ENST00000409937.1_Silent_p.D678D|CNGA3_ENST00000393504.1_Silent_p.D674D			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	674					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGGTGGGGACAAGCCCCTGG	0.552																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(2020-2022)gaC>gaT		cyclic nucleotide gated channel alpha 3							38.0	40.0	39.0					2																	99013655		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013655C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.2022C>T	2.37:g.99013655C>T						CNGA3_ENST00000436404.2_Silent_p.D656D|CNGA3_ENST00000409937.1_Silent_p.D678D|CNGA3_ENST00000272602.2_Silent_p.D674D	p.D674D	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2439	+			674					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.2022C>T	CCDS2034.1																																																																																				0.552	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		66	197	0	0	0	1	0	66	197				
EMR1	2015	broad.mit.edu	37	19	6926385	6926385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6926385C>T	ENST00000312053.4	+	16	2032	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	EMR1_ENST00000381407.5_Silent_p.C524C|EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000250572.8_Silent_p.C600C|EMR1_ENST00000381404.4_Silent_p.C613C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	665					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGATGGGCTGCGCCATCATCG	0.532																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1993-1995)tgC>tgT		egf-like module containing, mucin-like, hormone receptor-like 1							122.0	115.0	118.0					19																	6926385		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6926385C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1995C>T	19.37:g.6926385C>T						EMR1_ENST00000381404.4_Silent_p.C613C|EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000381407.5_Silent_p.C524C|EMR1_ENST00000250572.8_Silent_p.C600C	p.C665C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			16	2032	+	all_hematologic(4;0.166)		665					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1995C>T	CCDS12175.1																																																																																				0.532	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			6	250	0	0	0	1	0	6	250				
TLR5	7100	broad.mit.edu	37	1	223285335	223285335	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223285335G>T	ENST00000540964.1	-	4	1500	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	TLR5_ENST00000342210.6_Missense_Mutation_p.L347I			O60602	TLR5_HUMAN	toll-like receptor 5	347					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCCCCCAGAAGGTTATATGAC	0.363																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1039-1041)Ctt>Att		toll-like receptor 5							96.0	96.0	96.0					1																	223285335		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285335G>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1039C>A	1.37:g.223285335G>T	ENSP00000440643:p.Leu347Ile					TLR5_ENST00000342210.6_Missense_Mutation_p.L347I	p.L347I			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1500	-			347					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1039C>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734583	0.69189	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.57907	0.37;0.37;0.37	5.4	5.4	0.78164	.	0.068294	0.64402	D	0.000019	T	0.64972	0.2647	L	0.48260	1.515	0.58432	D	0.999991	D	0.76494	0.999	D	0.83275	0.996	T	0.65496	-0.6154	10	0.56958	D	0.05	.	12.5837	0.56406	0.076:0.0:0.9239:0.0	.	347	O60602	TLR5_HUMAN	I	347	ENSP00000440643:L347I;ENSP00000355846:L347I;ENSP00000340089:L347I	ENSP00000340089:L347I	L	-	1	0	TLR5	221351958	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	5.120000	0.64685	2.537000	0.85549	0.644000	0.83932	CTT		0.363	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		102	531	1	0	5.25376e-55	1	6.56284e-55	102	531				
ABCE1	6059	broad.mit.edu	37	4	146044705	146044705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146044705C>T	ENST00000296577.4	+	16	2108	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	531	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TAGCGGATCGCGTCATCGTTT	0.338																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(1591-1593)cgC>cgT		ATP-binding cassette, sub-family E (OABP), member 1							69.0	64.0	66.0					4																	146044705		2203	4298	6501	SO:0001819	synonymous_variant	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146044705C>T	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1593C>T	4.37:g.146044705C>T						OTUD4_ENST00000455611.2_Intron	p.R531R	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			16	2108	+	all_hematologic(180;0.151)		531			ABC transporter 2.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Silent	SNP	ENST00000296577.4	37	c.1593C>T	CCDS34071.1																																																																																				0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		29	133	0	0	0	1	0	29	133				
ZNF343	79175	broad.mit.edu	37	20	2463857	2463857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2463857G>A	ENST00000278772.4	-	6	2237	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R584*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTAAAGCCTCGCCCACACTCC	0.522																																						ENST00000278772.4																			1	Substitution - Nonsense(1)	p.R584*(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(1750-1752)Cga>Tga		zinc finger protein 343							101.0	83.0	89.0					20																	2463857		2203	4300	6503	SO:0001587	stop_gained	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2463857G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1750C>T	20.37:g.2463857G>A	ENSP00000278772:p.Arg584*					RP4-734P14.4_ENST00000461548.1_Intron	p.R584*	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	2237	-			584					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Nonsense_Mutation	SNP	ENST00000278772.4	37	c.1750C>T	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	G	38	7.002011	0.97994	.	.	ENSG00000088876	ENST00000278772	.	.	.	2.65	0.578	0.17391	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	2.4345	0.04479	0.2901:0.0:0.4746:0.2353	.	.	.	.	X	584	.	ENSP00000278772:R584X	R	-	1	2	ZNF343	2411857	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.504000	0.06375	0.035000	0.15519	0.591000	0.81541	CGA		0.522	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		64	286	0	0	0	1	0	64	286				
MAGEA4	4103	broad.mit.edu	37	X	151092439	151092439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151092439C>T	ENST00000360243.2	+	3	570	c.303C>T	c.(301-303)gaC>gaT	p.D101D	MAGEA4_ENST00000370335.1_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D|MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370340.3_Silent_p.D101D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	101										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCCTGACGCAGAGTCCT	0.557																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(301-303)gaC>gaT		melanoma antigen family A, 4							75.0	68.0	70.0					X																	151092439		2203	4300	6503	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092439C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.303C>T	X.37:g.151092439C>T						MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370335.1_Silent_p.D101D|MAGEA4_ENST00000360243.2_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D	p.D101D			P43358	MAGA4_HUMAN			3	570	+	Acute lymphoblastic leukemia(192;6.56e-05)		101					Q14798	Silent	SNP	ENST00000360243.2	37	c.303C>T	CCDS14702.1																																																																																				0.557	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		98	344	0	0	0	1	0	98	344				
NOTCH3	4854	broad.mit.edu	37	19	15299878	15299878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15299878C>T	ENST00000263388.2	-	8	1375	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	434	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E434K(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GACAGACACTCGTTGACATCG	0.647																																						ENST00000263388.2																			1	Substitution - Missense(1)	p.E434K(1)	upper_aerodigestive_tract(1)	breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(1300-1302)Gag>Aag		notch 3							51.0	42.0	45.0					19																	15299878		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15299878C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1300G>A	19.37:g.15299878C>T	ENSP00000263388:p.Glu434Lys						p.E434K	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		8	1375	-			434			EGF-like 11; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1300G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300635	0.95601	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.98849	-5.18	4.77	4.77	0.60923	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99149	0.9706	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99541	1.0963	9	0.87932	D	0	.	16.582	0.84717	0.0:1.0:0.0:0.0	.	437;434	Q59FL3;Q9UM47	.;NOTC3_HUMAN	K	434;436	ENSP00000263388:E434K	ENSP00000263388:E434K	E	-	1	0	NOTCH3	15160878	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.934000	0.70138	2.202000	0.70862	0.561000	0.74099	GAG		0.647	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		78	220	0	0	0	1	0	78	220				
SLC29A2	3177	broad.mit.edu	37	11	66136654	66136654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66136654G>A	ENST00000357440.2	-	4	520	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SLC29A2_ENST00000544554.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000311161.7_Missense_Mutation_p.R98C|SLC29A2_ENST00000546034.1_Missense_Mutation_p.R98C	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	98					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCCAGAATGCGCACCGTCTCC	0.652																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(292-294)Cgc>Tgc		solute carrier family 29 (equilibrative nucleoside transporter), member 2							43.0	36.0	38.0					11																	66136654		2195	4285	6480	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66136654G>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.292C>T	11.37:g.66136654G>A	ENSP00000350024:p.Arg98Cys					SLC29A2_ENST00000544554.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000546034.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000311161.7_Missense_Mutation_p.R98C	p.R98C	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			4	520	-			98					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.292C>T	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513346	0.44660	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.80653	1.77;-1.4;-1.4;-1.4	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.974	D	0.91518	0.5232	10	0.87932	D	0	-16.9786	9.4636	0.38800	0.0:0.0:0.7887:0.2113	.	98;98	G5E943;Q14542	.;S29A2_HUMAN	C	98	ENSP00000311250:R98C;ENSP00000350024:R98C;ENSP00000439456:R98C;ENSP00000440329:R98C	ENSP00000311250:R98C	R	-	1	0	SLC29A2	65893230	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	4.983000	0.63832	2.207000	0.71202	0.555000	0.69702	CGC		0.652	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		13	31	0	0	0	1	0	13	31				
ACAD10	80724	broad.mit.edu	37	12	112182630	112182630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112182630G>A	ENST00000313698.4	+	13	2053	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000455480.2_Missense_Mutation_p.S664N	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	633						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCACAGGCAGCAGGAGTTAT	0.567																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1990-1992)aGc>aAc		acyl-CoA dehydrogenase family, member 10							75.0	68.0	70.0					12																	112182630		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182630G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1898G>A	12.37:g.112182630G>A	ENSP00000325137:p.Ser633Asn					ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.S633N|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N	p.S664N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2168	+			633					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1991G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496691	0.26861	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96300	-3.97;3.27;-3.58;-3.58	5.42	-4.51	0.03483	.	1.722210	0.02874	N	0.132029	D	0.89283	0.6671	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.18263	0.021;0.0;0.001	D	0.83890	0.0284	10	0.16896	T	0.51	.	6.0316	0.19683	0.0:0.2892:0.3121:0.3986	.	664;633;633	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	N	235;633;633;664;26;633;214	ENSP00000376411:S235N;ENSP00000446959:S633N;ENSP00000389813:S664N;ENSP00000325137:S633N	ENSP00000325137:S633N	S	+	2	0	ACAD10	110667013	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.299000	0.02754	-1.483000	0.01858	-0.128000	0.14901	AGC		0.567	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		55	320	0	0	0	1	0	55	320				
MAGEB4	4115	broad.mit.edu	37	X	30261225	30261225	+	Missense_Mutation	SNP	C	C	T	rs374728070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30261225C>T	ENST00000378982.2	+	1	1169	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	325										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGCAGCCAGGCGTGGCACTAC	0.517																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(973-975)Cgt>Tgt		melanoma antigen family B, 4		C	CYS/ARG	0,3833		0,0,1631,571	49.0	43.0	45.0		973	0.3	0.0	X		45	1,6727		0,1,2427,1872	no	missense	MAGEB4	NM_002367.3	180	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	325/347	30261225	1,10560	2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261225C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.973C>T	X.37:g.30261225C>T	ENSP00000368266:p.Arg325Cys						p.R325C	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	1169	+			325					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.973C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953177	0.18431	0.0	1.49E-4	ENSG00000120289	ENST00000378982	T	0.01821	4.62	3.14	0.282	0.15692	.	.	.	.	.	T	0.00906	0.0030	N	0.03608	-0.345	0.09310	N	1	D	0.59357	0.985	B	0.39503	0.301	T	0.53585	-0.8418	9	0.54805	T	0.06	.	5.9274	0.19120	0.0:0.2501:0.5807:0.1692	.	325	O15481	MAGB4_HUMAN	C	325	ENSP00000368266:R325C	ENSP00000368266:R325C	R	+	1	0	MAGEB4	30171146	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.192000	0.09587	-0.060000	0.13132	-0.355000	0.07637	CGT		0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		68	223	0	0	0	1	0	68	223				
HGSNAT	138050	broad.mit.edu	37	8	43027471	43027471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43027471G>A	ENST00000458501.2	+	8	846	c.846G>A	c.(844-846)atG>atA	p.M282I	HGSNAT_ENST00000379644.4_Missense_Mutation_p.M254I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	282					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTATACTCATGGTCTTTGTCA	0.368																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(844-846)atG>atA		heparan-alpha-glucosaminide N-acetyltransferase							203.0	196.0	198.0					8																	43027471		1870	4091	5961	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43027471G>A		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.846G>A	8.37:g.43027471G>A	ENSP00000389524:p.Met282Ile					HGSNAT_ENST00000379644.4_Missense_Mutation_p.M254I	p.M282I			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		8	846	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	282					B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.846G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.275747	0.80580	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082	D;D;D	0.95103	-3.61;-3.61;-3.03	5.37	5.37	0.77165	.	0.043313	0.85682	D	0.000000	D	0.97216	0.9090	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97781	1.0232	10	0.87932	D	0	-37.2059	16.7067	0.85374	0.0:0.0:1.0:0.0	.	282	Q68CP4	HGNAT_HUMAN	I	282;254;1	ENSP00000389524:M282I;ENSP00000368965:M254I;ENSP00000430151:M1I	ENSP00000368965:M254I	M	+	3	0	HGSNAT	43146628	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.894000	0.87336	2.533000	0.85409	0.644000	0.83932	ATG		0.368	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		71	392	0	0	0	1	0	71	392				
OR2L8	391190	broad.mit.edu	37	1	248112746	248112746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112746G>A	ENST00000357191.3	+	1	587	c.587G>A	c.(586-588)gGc>gAc	p.G196D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	196			G -> C (in dbSNP:rs4925788).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCTATGAGGGCACAGTGTTT	0.473																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(586-588)gGc>gAc		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							137.0	46.0	77.0					1																	248112746		2203	4289	6492	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112746G>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.587G>A	1.37:g.248112746G>A	ENSP00000349719:p.Gly196Asp					OR2L13_ENST00000366478.2_Intron	p.G196D	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	587	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		196		G -> C (in dbSNP:rs4925788).			Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.587G>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	3.028	-0.200230	0.06219	.	.	ENSG00000196936	ENST00000357191	T	0.00091	8.74	1.21	-2.08	0.07254	GPCR, rhodopsin-like superfamily (1);	0.581525	0.12962	U	0.424910	T	0.00039	0.0001	N	0.01640	-0.785	0.09310	N	1	B	0.28178	0.202	B	0.29440	0.102	T	0.08310	-1.0728	10	0.35671	T	0.21	.	0.2585	0.00215	0.329:0.1455:0.2651:0.2604	.	196	Q8NGY9	OR2L8_HUMAN	D	196	ENSP00000349719:G196D	ENSP00000349719:G196D	G	+	2	0	OR2L8	246179369	0.000000	0.05858	0.701000	0.30321	0.651000	0.38670	-0.015000	0.12634	-0.726000	0.04895	0.479000	0.44913	GGC		0.473	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			12	111	0	0	0	1	0	12	111				
EVC2	132884	broad.mit.edu	37	4	5633732	5633732	+	Missense_Mutation	SNP	G	G	A	rs148248777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5633732G>A	ENST00000344408.5	-	11	1551	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	EVC2_ENST00000344938.1_Missense_Mutation_p.R500W|EVC2_ENST00000310917.2_Missense_Mutation_p.R420W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	500					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGGAGGGTCCGCAGAAGGTTG	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22241	0.0		0.0	False		,,,				2504	0.0					ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1258-1260)Cgg>Tgg		Ellis van Creveld syndrome 2							68.0	66.0	67.0					4																	5633732		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5633732G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1498C>T	4.37:g.5633732G>A	ENSP00000342144:p.Arg500Trp					EVC2_ENST00000344408.5_Missense_Mutation_p.R500W|EVC2_ENST00000344938.1_Missense_Mutation_p.R500W	p.R420W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			11	1989	-			500					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1258C>T	CCDS3382.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.34	2.207709	0.39003	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78481	-1.18;-1.18;-1.18	4.79	1.85	0.25348	.	0.170692	0.39985	N	0.001208	D	0.82296	0.5006	L	0.57536	1.79	0.35279	D	0.781174	D	0.89917	1.0	D	0.73708	0.981	D	0.84025	0.0356	10	0.72032	D	0.01	-44.7623	7.5351	0.27706	0.0:0.3201:0.434:0.2458	.	500	Q86UK5	LBN_HUMAN	W	500;420;500	ENSP00000339954:R500W;ENSP00000311683:R420W;ENSP00000342144:R500W	ENSP00000311683:R420W	R	-	1	2	EVC2	5684633	1.000000	0.71417	0.979000	0.43373	0.032000	0.12392	1.242000	0.32755	0.516000	0.28340	0.505000	0.49811	CGG		0.512	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		47	245	0	0	0	1	0	47	245				
ITSN1	6453	broad.mit.edu	37	21	35208915	35208915	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35208915G>T	ENST00000381318.3	+	29	3928	c.3640G>T	c.(3640-3642)Gac>Tac	p.D1214Y	ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1214	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1214H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCTGACCACAGACATGGACCC	0.522																																						ENST00000381318.3																			1	Substitution - Missense(1)	p.D1214H(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3640-3642)Gac>Tac		intersectin 1 (SH3 domain protein)							104.0	94.0	98.0					21																	35208915		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35208915G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3640G>T	21.37:g.35208915G>T	ENSP00000370719:p.Asp1214Tyr					ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y	p.D1214Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			29	3928	+			1214			SH3 5.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3640G>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446412	0.63178	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	4.51	4.51	0.55191	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.41824	1.3	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.981;1.0;0.994;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.954;0.986;0.994;0.968;0.927;0.996;0.998	T	0.52653	-0.8547	10	0.87932	D	0	.	17.2445	0.87023	0.0:0.0:1.0:0.0	.	1106;1177;1101;1209;1143;1209;1214;1138;1172	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	Y	1172;1214;1214;1214;1143;1209;1209;1143;1138;1209	ENSP00000382290:D1172Y;ENSP00000370719:D1214Y;ENSP00000370691:D1214Y;ENSP00000370685:D1214Y;ENSP00000382301:D1209Y;ENSP00000382289:D1209Y;ENSP00000382292:D1143Y;ENSP00000382286:D1138Y;ENSP00000387377:D1209Y	ENSP00000370685:D1214Y	D	+	1	0	ITSN1	34130785	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.268000	0.95675	2.059000	0.61396	0.637000	0.83480	GAC		0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		24	339	1	0	3.28513e-13	1	3.54196e-13	24	339				
TRMT10A	93587	broad.mit.edu	37	4	100479236	100479236	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100479236G>A	ENST00000273962.3	-	3	630	c.318C>T	c.(316-318)gaC>gaT	p.D106D	TRMT10A_ENST00000394877.3_Silent_p.D106D|TRMT10A_ENST00000394876.2_Silent_p.D106D	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	106	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CAAAACTACAGTCAATAATAA	0.343																																						ENST00000273962.3																			0											c.(316-318)gaC>gaT		tRNA methyltransferase 10 homolog A (S. cerevisiae)							192.0	156.0	168.0					4																	100479236		2203	4300	6503	SO:0001819	synonymous_variant	93587							g.chr4:100479236G>A	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.318C>T	4.37:g.100479236G>A						TRMT10A_ENST00000394876.2_Silent_p.D106D|TRMT10A_ENST00000394877.3_Silent_p.D106D	p.D106D	NM_152292.4	NP_689505.1					3	630	-								B2R8X7|Q9Y2T9	Silent	SNP	ENST00000273962.3	37	c.318C>T	CCDS3650.1																																																																																				0.343	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		28	142	0	0	0	1	0	28	142				
GARS	2617	broad.mit.edu	37	7	30639665	30639665	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30639665G>T	ENST00000389266.3	+	3	668	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	143					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TATTTATGGAGGTAAGGGATT	0.378																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.e3+1		glycyl-tRNA synthetase	Glycine(DB00145)						70.0	68.0	69.0					7																	30639665		1850	4092	5942	SO:0001630	splice_region_variant	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30639665G>T	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.427+1G>T	7.37:g.30639665G>T							p.G143_splice	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			3	668	+			143					B3KQA2|B4DIA0|Q969Y1	Splice_Site	SNP	ENST00000389266.3	37	c.427_splice	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749564	0.89753	.	.	ENSG00000106105	ENST00000389266	T	0.81163	-1.46	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95100	0.8229	10	0.87932	D	0	-18.4527	17.4148	0.87497	0.0:0.0:1.0:0.0	.	143	P41250	SYG_HUMAN	C	143	ENSP00000373918:G143C	ENSP00000373918:G143C	G	+	1	0	GARS	30606190	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.818000	0.99354	2.784000	0.95788	0.643000	0.83706	GGT		0.378	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	Missense_Mutation	6	300	1	0	0.27861	1	0.278732	6	300				
STOX1	219736	broad.mit.edu	37	10	70644973	70644973	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644973A>C	ENST00000298596.6	+	3	1504	c.1421A>C	c.(1420-1422)aAa>aCa	p.K474T	STOX1_ENST00000399169.4_Missense_Mutation_p.K474T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	474						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTAGGTCAGAAACCACTTGGT	0.453																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1420-1422)aAa>aCa		storkhead box 1							74.0	75.0	75.0					10																	70644973		1881	4093	5974	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644973A>C	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1421A>C	10.37:g.70644973A>C	ENSP00000298596:p.Lys474Thr					STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.K474T|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T|STOX1_ENST00000399165.4_Intron	p.K474T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	1504	+			474					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1421A>C	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	A	0.290	-0.980775	0.02197	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74315	-0.83;-0.83;-0.51	5.98	0.588	0.17445	.	0.489617	0.20416	N	0.092763	T	0.67097	0.2857	M	0.65975	2.015	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.55263	-0.8168	10	0.30854	T	0.27	.	9.4765	0.38875	0.3569:0.5702:0.0729:0.0	.	474	Q6ZVD7	STOX1_HUMAN	T	474;474;364	ENSP00000382121:K474T;ENSP00000298596:K474T;ENSP00000394509:K364T	ENSP00000298596:K474T	K	+	2	0	STOX1	70314979	0.001000	0.12720	0.131000	0.22000	0.015000	0.08874	1.282000	0.33226	0.132000	0.18615	0.482000	0.46254	AAA		0.453	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		80	330	0	0	0	1	0	80	330				
DOCK2	1794	broad.mit.edu	37	5	169230145	169230145	+	Missense_Mutation	SNP	C	C	A	rs112062072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169230145C>A	ENST00000256935.8	+	26	2718	c.2638C>A	c.(2638-2640)Ctg>Atg	p.L880M	DOCK2_ENST00000520908.1_Missense_Mutation_p.L372M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	880					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACCAGGTCCTGGAGAGGAA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18761	0.0		0.001	False		,,,				2504	0.0					ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(2638-2640)Ctg>Atg		dedicator of cytokinesis 2		C	MET/LEU	1,4405	2.1+/-5.4	0,1,2202	148.0	125.0	133.0		2638	3.6	0.1	5	dbSNP_132	133	9,8591	7.1+/-27.0	0,9,4291	yes	missense	DOCK2	NM_004946.2	15	0,10,6493	AA,AC,CC		0.1047,0.0227,0.0769	benign	880/1831	169230145	10,12996	2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169230145C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2638C>A	5.37:g.169230145C>A	ENSP00000256935:p.Leu880Met					DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L372M	p.L880M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	2718	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	880					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2638C>A	CCDS4371.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.81	1.749829	0.30955	2.27E-4	0.001047	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.21361	2.01;2.01;2.01	5.36	3.56	0.40772	.	0.921684	0.09265	N	0.825915	T	0.11067	0.0270	N	0.08118	0	0.42644	D	0.99342	B;B	0.30709	0.291;0.042	B;B	0.24541	0.054;0.037	T	0.07731	-1.0757	10	0.54805	T	0.06	.	8.148	0.31124	0.282:0.6461:0.0:0.0719	.	372;880	E7ERW7;Q92608	.;DOCK2_HUMAN	M	880;261;372;84	ENSP00000256935:L880M;ENSP00000429283:L372M;ENSP00000428841:L84M	ENSP00000256935:L880M	L	+	1	2	DOCK2	169162723	0.088000	0.21588	0.133000	0.22050	0.957000	0.61999	0.944000	0.29043	0.733000	0.32492	0.655000	0.94253	CTG		0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		59	245	1	0	2.18419e-29	1	2.55125e-29	59	245				
RANBP17	64901	broad.mit.edu	37	5	170632528	170632528	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170632528C>T	ENST00000523189.1	+	20	2307	c.2143C>T	c.(2143-2145)Cgt>Tgt	p.R715C	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	715					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.R715S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCACTGACAGCGTATGTTGAT	0.428			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)	p.R715S(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.e20-1		RAN binding protein 17							161.0	138.0	146.0					5																	170632528		2203	4300	6503	SO:0001630	splice_region_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170632528C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2143-1C>T	5.37:g.170632528C>T						RANBP17_ENST00000521759.1_3'UTR	p.R715_splice	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		20	2307	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	715					Q8IU74	Splice_Site	SNP	ENST00000523189.1	37	c.2142_splice	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845396	0.71603	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.68331	-0.32	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.80059	0.4554	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70487	0.932;0.969;0.932	T	0.78986	-0.1987	9	.	.	.	-11.8389	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	715;40;715	Q546R4;Q96M10;Q9H2T7	.;.;RBP17_HUMAN	C	715;145	ENSP00000427975:R715C	.	R	+	1	0	RANBP17	170565133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.946000	0.56644	2.832000	0.97577	0.655000	0.94253	CGT		0.428	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	Missense_Mutation	45	212	0	0	0	1	0	45	212				
CSDE1	7812	broad.mit.edu	37	1	115263337	115263337	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115263337G>A	ENST00000358528.4	-	17	2301	c.1875C>T	c.(1873-1875)ggC>ggT	p.G625G	CSDE1_ENST00000438362.2_Splice_Site_p.G671G|CSDE1_ENST00000339438.6_Splice_Site_p.G594G|CSDE1_ENST00000369530.1_Splice_Site_p.G640G|CSDE1_ENST00000534699.1_Splice_Site_p.G625G|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000530886.1_Splice_Site_p.G495G|CSDE1_ENST00000261443.5_Splice_Site_p.G594G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	625	CSD 8.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCATATCGCCTGTAAAAC	0.428																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e17-1		cold shock domain containing E1, RNA-binding							109.0	90.0	97.0					1																	115263337		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115263337G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1874-1C>T	1.37:g.115263337G>A						CSDE1_ENST00000339438.6_Splice_Site_p.G594_splice|CSDE1_ENST00000369530.1_Splice_Site_p.G640_splice|CSDE1_ENST00000261443.5_Splice_Site_p.G594_splice|CSDE1_ENST00000358528.4_Splice_Site_p.G625_splice|CSDE1_ENST00000530886.1_Splice_Site_p.G495_splice|CSDE1_ENST00000534699.1_Splice_Site_p.G625_splice	p.G671_splice	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	2391	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	625					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37	c.2011_splice	CCDS30812.1																																																																																				0.428	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Silent	51	221	0	0	0	1	0	51	221				
RPUSD2	27079	broad.mit.edu	37	15	40863937	40863937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40863937C>T	ENST00000315616.7	+	2	779	c.741C>T	c.(739-741)ggC>ggT	p.G247G	RPUSD2_ENST00000559271.1_Silent_p.G186G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	247					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		ACCCCTGTGGCCGCTTCCGAC	0.562																																						ENST00000315616.7																			0				kidney(4)|lung(4)|skin(3)	11						c.(739-741)ggC>ggT		RNA pseudouridylate synthase domain containing 2							200.0	143.0	163.0					15																	40863937		2203	4300	6503	SO:0001819	synonymous_variant	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40863937C>T	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.741C>T	15.37:g.40863937C>T						RPUSD2_ENST00000559271.1_Silent_p.G186G	p.G247G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	2	779	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	247					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Silent	SNP	ENST00000315616.7	37	c.741C>T	CCDS10061.1																																																																																				0.562	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		20	603	0	0	0	1	0	20	603				
PSORS1C1	170679	broad.mit.edu	37	6	31083901	31083901	+	Intron	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31083901G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.R497R|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CCCGGATGGAGCGGCAGGGGA	0.602																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1489-1491)cgC>cgT		corneodesmosin							43.0	44.0	43.0					6																	31083901		1809	3591	5400	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31083901G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1233G>A	6.37:g.31083901G>A						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.R497R	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1517	-			497					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.1491C>T	CCDS34390.1																																																																																				0.602	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		69	279	0	0	0	1	0	69	279				
NPRL3	8131	broad.mit.edu	37	16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:169169G>A	ENST00000399953.3	-	3	676	c.274C>T	c.(274-276)Cga>Tga	p.R92*	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	92					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(274-276)Cga>Tga		nitrogen permease regulator-like 3 (S. cerevisiae)							87.0	89.0	88.0					16																	169169		1955	4146	6101	SO:0001587	stop_gained	8131						protein binding	g.chr16:169169G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.274C>T	16.37:g.169169G>A	ENSP00000382834:p.Arg92*					NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000405960.3_5'UTR	p.R92*	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			3	676	-			92					D3DU40|Q1W6H0|Q4TT56|Q92469	Nonsense_Mutation	SNP	ENST00000399953.3	37	c.274C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.723317	0.98929	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-31.1374	18.0399	0.89316	0.0:0.0:1.0:0.0	.	.	.	.	X	92;92;105	.	ENSP00000262313:R92X	R	-	1	2	NPRL3	109169	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.451000	0.97610	2.569000	0.86673	0.655000	0.94253	CGA		0.478	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		21	67	0	0	0	1	0	21	67				
SPAG9	9043	broad.mit.edu	37	17	49064500	49064500	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49064500G>A	ENST00000262013.7	-	22	3120	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I|SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	971					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGCCACATAGTTGGTAAAAG	0.348																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2911-2913)aCt>aTt		sperm associated antigen 9							152.0	134.0	140.0					17																	49064500		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49064500G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2912C>T	17.37:g.49064500G>A	ENSP00000262013:p.Thr971Ile					SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I|SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I	p.T971I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		22	3120	-			971					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.2912C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171147	0.94807	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.44083	0.93;0.93;0.93;0.95	5.8	5.8	0.92144	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.69316	-0.5177	10	0.87932	D	0	-15.7473	20.051	0.97627	0.0:0.0:1.0:0.0	.	961;971;957;814	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	I	971;728;718;508;814;961;957;569	ENSP00000262013:T971I;ENSP00000423165:T814I;ENSP00000426900:T961I;ENSP00000349636:T957I	ENSP00000262013:T971I	T	-	2	0	SPAG9	46419499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.773000	0.98989	2.740000	0.93945	0.650000	0.86243	ACT		0.348	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		83	344	0	0	0	1	0	83	344				
DNAH10	196385	broad.mit.edu	37	12	124289558	124289558	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124289558T>G	ENST00000409039.3	+	17	2629	c.2604T>G	c.(2602-2604)atT>atG	p.I868M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	868	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAAGAAAATTTATGAGGTCC	0.443																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2602-2604)atT>atG		dynein, axonemal, heavy chain 10							67.0	70.0	69.0					12																	124289558		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124289558T>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2604T>G	12.37:g.124289558T>G	ENSP00000386770:p.Ile868Met						p.I868M	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	17	2629	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		868			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2604T>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306600	0.40795	.	.	ENSG00000197653	ENST00000409039	T	0.24350	1.86	5.42	-3.79	0.04320	.	0.494884	0.17038	N	0.189451	T	0.33760	0.0874	L	0.57536	1.79	0.28725	N	0.902835	P;P;D	0.59357	0.886;0.819;0.985	P;P;P	0.59595	0.628;0.611;0.86	T	0.31223	-0.9951	10	0.15066	T	0.55	.	12.6907	0.56972	0.0:0.6709:0.1208:0.2083	.	868;743;868	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	M	868	ENSP00000386770:I868M	ENSP00000386770:I868M	I	+	3	3	DNAH10	122855511	0.318000	0.24598	0.002000	0.10522	0.182000	0.23217	-0.382000	0.07408	-1.010000	0.03396	-0.491000	0.04670	ATT		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			64	276	0	0	0	1	0	64	276				
GRIN2D	2906	broad.mit.edu	37	19	48945066	48945066	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945066T>C	ENST00000263269.3	+	11	2381	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	765					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGCTCAATTACATGGCCCG	0.637																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2293-2295)Tac>Cac		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						64.0	51.0	56.0					19																	48945066		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945066T>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2293T>C	19.37:g.48945066T>C	ENSP00000263269:p.Tyr765His						p.Y765H	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	11	2381	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	765						Missense_Mutation	SNP	ENST00000263269.3	37	c.2293T>C	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398480	0.62177	.	.	ENSG00000105464	ENST00000263269	T	0.56611	0.45	4.62	4.62	0.57501	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.79300	-0.1860	10	0.87932	D	0	.	13.4795	0.61328	0.0:0.0:0.0:1.0	.	765	O15399	NMDE4_HUMAN	H	765	ENSP00000263269:Y765H	ENSP00000263269:Y765H	Y	+	1	0	GRIN2D	53636878	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.860000	0.86993	2.090000	0.63153	0.374000	0.22700	TAC		0.637	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			50	187	0	0	0	1	0	50	187				
TRIM2	23321	broad.mit.edu	37	4	154216846	154216846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216846G>A	ENST00000437508.2	+	6	1288	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	TRIM2_ENST00000338700.5_Missense_Mutation_p.A390T|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	363					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AACCGGCAACGCCTACCTCAC	0.617																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1168-1170)Gcc>Acc		tripartite motif containing 2							73.0	71.0	71.0					4																	154216846		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216846G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1087G>A	4.37:g.154216846G>A	ENSP00000415812:p.Ala363Thr					TRIM2_ENST00000437508.2_Missense_Mutation_p.A363T|TRIM2_ENST00000494872.1_3'UTR	p.A390T	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1233	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	363					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1168G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189461	0.94923	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84589	-1.87;-1.87	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.091921	0.85682	D	0.000000	D	0.93458	0.7913	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.80764	0.994;0.525	D	0.92425	0.5949	10	0.33940	T	0.23	-0.104	19.2934	0.94112	0.0:0.0:1.0:0.0	.	390;363	D3DP09;Q9C040	.;TRIM2_HUMAN	T	363;390	ENSP00000415812:A363T;ENSP00000339659:A390T	ENSP00000339659:A390T	A	+	1	0	TRIM2	154436296	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.375000	0.97178	2.641000	0.89580	0.561000	0.74099	GCC		0.617	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			39	221	0	0	0	1	0	39	221				
MARCH4	57574	broad.mit.edu	37	2	217234861	217234861	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217234861G>T	ENST00000273067.4	-	1	1889	c.123C>A	c.(121-123)cgC>cgA	p.R41R		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	41						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCATGCGGCAGCGGCACTTGA	0.652																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(121-123)cgC>cgA		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase																																				SO:0001819	synonymous_variant	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234861G>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.123C>A	2.37:g.217234861G>T							p.R41R	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1889	-		Renal(323;0.0854)	41					Q4KMN7|Q86WR8	Silent	SNP	ENST00000273067.4	37	c.123C>A	CCDS33376.1																																																																																				0.652	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		23	79	1	0	5.26018e-13	1	5.6673e-13	23	79				
GAB2	9846	broad.mit.edu	37	11	77937523	77937523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77937523G>A	ENST00000361507.4	-	4	1280	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	399					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTGAAGTCGGCTGTTGTCC	0.542																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1195-1197)Cga>Tga		GRB2-associated binding protein 2							149.0	127.0	135.0					11																	77937523		2199	4292	6491	SO:0001587	stop_gained	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937523G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1195C>T	11.37:g.77937523G>A	ENSP00000354952:p.Arg399*					GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*	p.R399*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	1280	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		399					A2RRM2|A6NEW9|A7MD36|O60317	Nonsense_Mutation	SNP	ENST00000361507.4	37	c.1195C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678256	0.96764	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	.	.	.	5.21	4.28	0.50868	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3846	13.3867	0.60799	0.0:0.0:0.6566:0.3434	.	.	.	.	X	361;399	.	ENSP00000343959:R361X	R	-	1	2	GAB2	77615171	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.405000	0.59741	1.292000	0.44672	0.561000	0.74099	CGA		0.542	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		75	473	0	0	0	1	0	75	473				
ZNF467	168544	broad.mit.edu	37	7	149473530	149473530	+	5'Flank	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149473530G>A	ENST00000302017.3	-	0	0				SSPO_ENST00000378016.2_RNA	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCATTACAGCCGCCTGGGC	0.662																																						ENST00000378016.2																			0													SCO-spondin							15.0	20.0	18.0					7																	149473530		1963	4127	6090	SO:0001631	upstream_gene_variant	23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149473530G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883		7.37:g.149473530G>A	Exception_encountered									A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	146	+	Melanoma(164;0.165)|Ovarian(565;0.177)								RNA	SNP	ENST00000302017.3	37		CCDS5899.1																																																																																				0.662	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		10	45	0	0	0	1	0	10	45				
IBSP	3381	broad.mit.edu	37	4	88731834	88731834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88731834C>A	ENST00000226284.5	+	6	390	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	108	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACCACACTTTCTGCTACAACA	0.428																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(322-324)tCt>tAt		integrin-binding sialoprotein							125.0	126.0	126.0					4																	88731834		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88731834C>A		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.323C>A	4.37:g.88731834C>A	ENSP00000226284:p.Ser108Tyr						p.S108Y	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	6	390	+		Hepatocellular(203;0.114)	108			Asp/Glu-rich (acidic).			Missense_Mutation	SNP	ENST00000226284.5	37	c.323C>A	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048949	0.55110	.	.	ENSG00000029559	ENST00000226284	T	0.16073	2.37	5.23	4.36	0.52297	.	0.450652	0.21382	N	0.075451	T	0.38427	0.1040	M	0.73598	2.24	0.09310	N	1	D	0.63046	0.992	D	0.63877	0.919	T	0.19063	-1.0317	10	0.72032	D	0.01	.	11.8883	0.52615	0.0:0.8238:0.1762:0.0	.	108	P21815	SIAL_HUMAN	Y	108	ENSP00000226284:S108Y	ENSP00000226284:S108Y	S	+	2	0	IBSP	88950858	0.124000	0.22315	0.061000	0.19648	0.132000	0.20833	1.984000	0.40658	1.274000	0.44362	0.591000	0.81541	TCT		0.428	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			104	472	1	0	3.676e-42	1	4.47322e-42	104	472				
ENPP4	22875	broad.mit.edu	37	6	46108086	46108086	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46108086G>T	ENST00000321037.4	+	2	996	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	256					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCTGCATCGATCATTCATA	0.388																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(766-768)Gat>Tat		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							95.0	93.0	93.0					6																	46108086		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46108086G>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.766G>T	6.37:g.46108086G>T	ENSP00000318066:p.Asp256Tyr						p.D256Y	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			2	996	+			256					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.766G>T	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848678	0.17034	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.77229	-1.08	5.67	-4.04	0.04010	Alkaline-phosphatase-like, core domain (1);	0.748364	0.14196	N	0.334993	T	0.73265	0.3565	M	0.88105	2.93	0.09310	N	1	P	0.44690	0.841	P	0.50314	0.637	T	0.73786	-0.3873	10	0.87932	D	0	-1.2773	8.3418	0.32247	0.4755:0.099:0.4256:0.0	.	256	Q9Y6X5	ENPP4_HUMAN	Y	256	ENSP00000318066:D256Y	ENSP00000318066:D256Y	D	+	1	0	ENPP4	46216045	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.161000	0.16481	-1.063000	0.03177	-0.768000	0.03414	GAT		0.388	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			12	356	1	0	1.5739e-10	1	1.67034e-10	12	356				
MYH2	4620	broad.mit.edu	37	17	10446206	10446206	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10446206T>G	ENST00000245503.5	-	10	1274	c.890A>C	c.(889-891)aAa>aCa	p.K297T	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.K297T|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	297	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGTTCTGGTTTCTTATTCGA	0.343																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(889-891)aAa>aCa		myosin, heavy chain 2, skeletal muscle, adult							53.0	54.0	53.0					17																	10446206		2202	4293	6495	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10446206T>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.890A>C	17.37:g.10446206T>G	ENSP00000245503:p.Lys297Thr					CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.K297T|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T	p.K297T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			10	1274	-			297			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.890A>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457002	0.63401	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.71341	-0.56;-0.56;-0.56	4.89	4.89	0.63831	Myosin head, motor domain (2);	0.000000	0.41097	U	0.000958	T	0.82051	0.4953	M	0.67517	2.055	0.58432	D	0.999994	D;P	0.65815	0.995;0.577	D;P	0.85130	0.997;0.833	D	0.84078	0.0383	10	0.72032	D	0.01	.	13.8513	0.63499	0.0:0.0:0.0:1.0	.	297;297	Q567P6;Q9UKX2	.;MYH2_HUMAN	T	297	ENSP00000433944:K297T;ENSP00000245503:K297T;ENSP00000380367:K297T	ENSP00000245503:K297T	K	-	2	0	MYH2	10386931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.063000	0.61619	0.528000	0.53228	AAA		0.343	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		29	120	0	0	0	1	0	29	120				
PLOD1	5351	broad.mit.edu	37	1	12004699	12004699	+	Intron	SNP	G	G	A	rs568319180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12004699G>A	ENST00000196061.4	+	2	103				PLOD1_ENST00000485046.1_Intron|PLOD1_ENST00000376369.3_Missense_Mutation_p.R66H	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1						cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AGCATCCCTCGTTTCTGGATC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13453	0.0		0.0	False		,,,				2504	0.0					ENST00000376369.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(196-198)cGt>cAt		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						28.0	26.0	27.0					1																	12004699		876	1991	2867	SO:0001627	intron_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12004699G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.77-3334G>A	1.37:g.12004699G>A						PLOD1_ENST00000485046.1_Intron|PLOD1_ENST00000196061.4_Intron	p.R66H			Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	242	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	25					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.197G>A	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113608	0.20795	.	.	ENSG00000083444	ENST00000449038;ENST00000376369	T;T	0.66099	2.4;-0.19	3.43	-3.6	0.04570	.	.	.	.	.	T	0.34454	0.0898	.	.	.	0.09310	N	1	P	0.34892	0.474	B	0.19666	0.026	T	0.15178	-1.0446	8	0.42905	T	0.14	.	1.3132	0.02102	0.1712:0.376:0.1832:0.2696	.	66	B4DR87	.	H	66	ENSP00000414443:R66H;ENSP00000365548:R66H	ENSP00000365548:R66H	R	+	2	0	PLOD1	11927286	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.244000	0.08903	-0.562000	0.06086	-2.053000	0.00404	CGT		0.617	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		13	71	0	0	0	1	0	13	71				
RAI14	26064	broad.mit.edu	37	5	34824489	34824489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34824489G>T	ENST00000265109.3	+	15	2829	c.2542G>T	c.(2542-2544)Gaa>Taa	p.E848*	RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	848						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAAAGAGCAAGAAGTAAATGA	0.393																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2542-2544)Gaa>Taa		retinoic acid induced 14							51.0	54.0	53.0					5																	34824489		2202	4300	6502	SO:0001587	stop_gained	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824489G>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2542G>T	5.37:g.34824489G>T	ENSP00000265109:p.Glu848*					RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*	p.E848*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	2829	+	all_lung(31;0.000191)		848					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	ENST00000265109.3	37	c.2542G>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	40	8.201637	0.98704	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.9299	19.6676	0.95898	0.0:0.0:1.0:0.0	.	.	.	.	X	848;819;848;848;851;840;841	.	ENSP00000265109:E848X	E	+	1	0	RAI14	34860246	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	8.358000	0.90090	2.658000	0.90341	0.555000	0.69702	GAA		0.393	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		53	296	1	0	9.22156e-22	1	1.04059e-21	53	296				
MT1H	4496	broad.mit.edu	37	16	56704811	56704811	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56704811C>A	ENST00000332374.4	+	3	167	c.96C>A	c.(94-96)agC>agA	p.S32R	MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	32	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						TTTCCCCAGGCTGCTGCTCCT	0.617																																						ENST00000332374.4																			0				lung(5)	5						c.e3-1		metallothionein 1H							122.0	113.0	116.0					16																	56704811		2198	4300	6498	SO:0001630	splice_region_variant	4496						metal ion binding|protein binding	g.chr16:56704811C>A	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.95-1C>A	16.37:g.56704811C>A						MT1H_ENST00000569155.1_3'UTR	p.S32_splice	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN			3	167	+			32			Alpha.		B2RUY6	Splice_Site	SNP	ENST00000332374.4	37	c.94_splice	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908037	0.17833	.	.	ENSG00000205358	ENST00000332374	T	0.12984	2.63	2.6	2.6	0.31112	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.064398	0.64402	U	0.000011	T	0.11750	0.0286	.	.	.	0.80722	D	1	B	0.19935	0.04	B	0.12837	0.008	T	0.08722	-1.0708	9	0.87932	D	0	.	10.313	0.43721	0.0:1.0:0.0:0.0	.	32	P80294	MT1H_HUMAN	R	32	ENSP00000330587:S32R	ENSP00000330587:S32R	S	+	3	2	MT1H	55262312	1.000000	0.71417	0.965000	0.40720	0.142000	0.21351	1.968000	0.40500	1.141000	0.42275	0.313000	0.20887	AGC		0.617	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951	Missense_Mutation	40	502	1	0	4.32679e-17	1	4.76816e-17	40	502				
FAM84A	151354	broad.mit.edu	37	2	14774144	14774144	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774144G>T	ENST00000295092.2	+	2	329	c.41G>T	c.(40-42)aGc>aTc	p.S14I	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	14										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CTCAACTACAGCGAGTTGCCC	0.617																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(40-42)aGc>aTc		family with sequence similarity 84, member A							28.0	32.0	31.0					2																	14774144		2203	4300	6503	SO:0001583	missense	151354							g.chr2:14774144G>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.41G>T	2.37:g.14774144G>T	ENSP00000295092:p.Ser14Ile					FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I	p.S14I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	329	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		14					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.41G>T	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242236	0.79912	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.04119	3.7;3.7	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.01305	-1.1390	10	0.72032	D	0.01	-21.0837	17.3365	0.87282	0.0:0.0:1.0:0.0	.	14	Q96KN4	FA84A_HUMAN	I	14	ENSP00000295092:S14I;ENSP00000330681:S14I	ENSP00000295092:S14I	S	+	2	0	FAM84A	14691595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.900000	0.63252	2.369000	0.80426	0.655000	0.94253	AGC		0.617	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		26	154	1	0	9.57634e-11	1	1.01752e-10	26	154				
ZC3H18	124245	broad.mit.edu	37	16	88690390	88690390	+	Silent	SNP	G	G	A	rs200434508		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88690390G>A	ENST00000301011.5	+	11	2018	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	ZC3H18_ENST00000452588.2_Silent_p.P630P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	606	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTTCGTCCCCGTCCCCGTCCC	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14940	0.0		0.0	False		,,,				2504	0.0				Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1816-1818)ccG>ccA		zinc finger CCCH-type containing 18							96.0	88.0	91.0					16																	88690390		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88690390G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1818G>A	16.37:g.88690390G>A						ZC3H18_ENST00000452588.2_Silent_p.P630P	p.P606P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	11	2018	+			606			Ser-rich.		Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1818G>A	CCDS10967.1																																																																																				0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		127	521	0	0	0	1	0	127	521				
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	G	A	rs528605468		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		24556	0.0		0.0	False		,,,				2504	0.001					ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(574-576)tcG>tcA		olfactory receptor, family 6, subfamily Q, member 1							253.0	223.0	233.0					11																	57799000		2201	4296	6497	SO:0001819	synonymous_variant	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799000G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.576G>A	11.37:g.57799000G>A						OR9Q1_ENST00000335397.3_Intron	p.S192S	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	599	+		Breast(21;0.0707)|all_epithelial(135;0.142)	192					B9EKW1|Q6IFH1|Q96R34	Silent	SNP	ENST00000302622.3	37	c.576G>A	CCDS31541.1																																																																																				0.498	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		30	691	0	0	0	1	0	30	691				
INO80	54617	broad.mit.edu	37	15	41275118	41275118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41275118G>A	ENST00000361937.3	-	35	4819	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	INO80_ENST00000561244.1_5'Flank|INO80_ENST00000401393.3_Silent_p.A1465A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1465	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCAGCCCCGGCTTTGGCTC	0.617																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4393-4395)gcC>gcT		INO80 complex subunit							45.0	51.0	49.0					15																	41275118		2202	4294	6496	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41275118G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4395C>T	15.37:g.41275118G>A						INO80_ENST00000401393.3_Silent_p.A1465A	p.A1465A			Q9ULG1	INO80_HUMAN			35	4819	-			1465			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.4395C>T	CCDS10071.1																																																																																				0.617	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		44	528	0	0	0	1	0	44	528				
GRK7	131890	broad.mit.edu	37	3	141526658	141526658	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526658C>A	ENST00000264952.2	+	3	1359	c.1222C>A	c.(1222-1224)Ctg>Atg	p.L408M		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.L408V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAAAGAACTCTGCAAGACGA	0.428																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.L408V(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1222-1224)Ctg>Atg		G protein-coupled receptor kinase 7							109.0	99.0	103.0					3																	141526658		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141526658C>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1222C>A	3.37:g.141526658C>A	ENSP00000264952:p.Leu408Met						p.L408M	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			3	1359	+			408			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1222C>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499113	0.44455	.	.	ENSG00000114124	ENST00000264952	T	0.68765	-0.35	4.95	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.076806	0.52532	D	0.000068	T	0.56978	0.2022	L	0.46614	1.455	0.49299	D	0.999776	P	0.39782	0.688	B	0.42138	0.377	T	0.56498	-0.7969	10	0.56958	D	0.05	-11.8645	4.5024	0.11870	0.0:0.5491:0.2011:0.2498	.	408	Q8WTQ7	GRK7_HUMAN	M	408	ENSP00000264952:L408M	ENSP00000264952:L408M	L	+	1	2	GRK7	143009348	0.961000	0.32948	0.976000	0.42696	0.985000	0.73830	1.891000	0.39738	1.019000	0.39547	0.650000	0.86243	CTG		0.428	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		7	355	1	0	0.00198382	1	0.00200138	7	355				
CAMK2D	817	broad.mit.edu	37	4	114430832	114430832	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114430832C>A	ENST00000342666.5	-	13	946		c.e13-1		CAMK2D_ENST00000508738.1_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000429180.1_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000454265.2_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta						calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTCTTGGCTGCTGTAAAATGA	0.393																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.e13-1		calcium/calmodulin-dependent protein kinase II delta							111.0	106.0	107.0					4																	114430832		2203	4300	6503	SO:0001630	splice_region_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114430832C>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.947-1G>T	4.37:g.114430832C>A						CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000429180.1_Splice_Site|CAMK2D_ENST00000342666.5_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site|CAMK2D_ENST00000508738.1_Splice_Site				Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	13	1805	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)						A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Splice_Site	SNP	ENST00000342666.5	37		CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027771	0.75390	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000513132;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMK2D	114650281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.102000	0.64572	2.882000	0.98803	0.655000	0.94253	.		0.393	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2		Intron	22	210	1	0	1.22574e-08	1	1.28258e-08	22	210				
KIF2B	84643	broad.mit.edu	37	17	51901392	51901392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901392C>T	ENST00000268919.4	+	1	1154	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	333	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTCTGGTGGCACAGGATGTC	0.478																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(997-999)gCa>gTa		kinesin family member 2B							108.0	109.0	109.0					17																	51901392		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901392C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.998C>T	17.37:g.51901392C>T	ENSP00000268919:p.Ala333Val						p.A333V	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1154	+			333			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.998C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042862	0.75732	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73363	-0.74	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.115539	0.38326	N	0.001727	T	0.69151	0.3079	L	0.28608	0.87	0.54753	D	0.999983	P	0.37207	0.587	B	0.41174	0.349	T	0.71328	-0.4626	10	0.56958	D	0.05	.	16.7672	0.85527	0.0:1.0:0.0:0.0	.	333	Q8N4N8	KIF2B_HUMAN	V	333;221	ENSP00000268919:A333V	ENSP00000268919:A333V	A	+	2	0	KIF2B	49256391	0.998000	0.40836	0.303000	0.25071	0.629000	0.37895	3.740000	0.55082	2.798000	0.96311	0.655000	0.94253	GCA		0.478	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		96	442	0	0	0	1	0	96	442				
PML	5371	broad.mit.edu	37	15	74325728	74325728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74325728C>T	ENST00000268058.3	+	6	1726	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000565898.1_Missense_Mutation_p.H496Y|PML_ENST00000395132.2_Intron|PML_ENST00000567543.1_Intron|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000435786.2_Missense_Mutation_p.H544Y|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Missense_Mutation_p.H496Y	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	544	Interaction with PER2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAACAGCAACCACGTGGCCAG	0.667			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1486-1488)Cac>Tac		promyelocytic leukemia							47.0	47.0	47.0					15																	74325728		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74325728C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1630C>T	15.37:g.74325728C>T	ENSP00000268058:p.His544Tyr					PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000268058.3_Missense_Mutation_p.H544Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000564428.1_Missense_Mutation_p.H496Y|PML_ENST00000395132.2_Intron|PML_ENST00000435786.2_Missense_Mutation_p.H544Y|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000567543.1_Intron	p.H496Y			P29590	PML_HUMAN			5	1570	+			544					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1486C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505103	0.64410	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000436891;ENST00000268058;ENST00000268059;ENST00000354026;ENST00000417341;ENST00000418568	T	0.47869	0.83	4.81	3.83	0.44106	.	3.797720	0.00397	N	0.000054	T	0.65502	0.2697	M	0.61703	1.905	0.31687	N	0.64232	B;P;P;P;P;D;D;B;B;D	0.62365	0.003;0.917;0.952;0.952;0.952;0.991;0.986;0.01;0.003;0.986	B;P;B;P;P;P;P;B;B;P	0.59115	0.004;0.472;0.439;0.536;0.536;0.852;0.536;0.006;0.004;0.842	T	0.53472	-0.8434	10	0.59425	D	0.04	-32.366	10.8648	0.46849	0.1874:0.8126:0.0:0.0	.	544;544;496;496;544;496;544;544;544;499	P29590-3;P29590;P29590-11;P29590-12;P29590-5;P29590-13;P29590-4;P29590-2;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.	Y	544;544;544;544;544;496;105;544	ENSP00000268058:H544Y	ENSP00000268058:H544Y	H	+	1	0	PML	72112781	0.733000	0.28132	0.918000	0.36340	0.060000	0.15804	1.853000	0.39358	2.386000	0.81285	0.549000	0.68633	CAC		0.667	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		56	325	0	0	0	1	0	56	325				
TULP4	56995	broad.mit.edu	37	6	158735144	158735144	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158735144G>A	ENST00000367097.3	+	1	1453	c.96G>A	c.(94-96)gaG>gaA	p.E32E	TULP4_ENST00000367094.2_Silent_p.E32E|RP11-732M18.3_ENST00000432358.1_lincRNA	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	32					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGAAGGAGAAGCCTGTGT	0.572																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(94-96)gaG>gaA		tubby like protein 4							96.0	81.0	86.0					6																	158735144		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158735144G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.96G>A	6.37:g.158735144G>A						TULP4_ENST00000367094.2_Silent_p.E32E	p.E32E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	1	1453	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	32					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.96G>A	CCDS34561.1																																																																																				0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		55	217	0	0	0	1	0	55	217				
MED10	84246	broad.mit.edu	37	5	6372625	6372625	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6372625C>T	ENST00000255764.3	-	4	509	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	133					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GTTAAGAAGGCGGGTGATCCT	0.522																																						ENST00000255764.3																			0				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(397-399)ccG>ccA		mediator complex subunit 10							110.0	109.0	110.0					5																	6372625		2203	4300	6503	SO:0001819	synonymous_variant	84246				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr5:6372625C>T		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.399G>A	5.37:g.6372625C>T							p.P133P	NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN			4	509	-			133					C6G491	Silent	SNP	ENST00000255764.3	37	c.399G>A	CCDS34134.1																																																																																				0.522	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		39	313	0	0	0	1	0	39	313				
EPHA1	2041	broad.mit.edu	37	7	143098600	143098600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143098600G>A	ENST00000275815.3	-	3	335	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	83	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGATCCAATTGGAGCGAAGCC	0.602																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(247-249)tcC>tcT		EPH receptor A1							154.0	145.0	148.0					7																	143098600		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098600G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.249C>T	7.37:g.143098600G>A							p.S83S	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			3	335	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	83					A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.249C>T	CCDS5884.1																																																																																				0.602	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			227	948	0	0	0	1	0	227	948				
ZBTB38	253461	broad.mit.edu	37	3	141163088	141163088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163088G>T	ENST00000514251.1	+	4	2137	c.1858G>T	c.(1858-1860)Gat>Tat	p.D620Y	ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y|ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GAATTTCCAAGATACTGTAAA	0.443																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(1858-1860)Gat>Tat		zinc finger and BTB domain containing 38							86.0	84.0	84.0					3																	141163088		1986	4179	6165	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163088G>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1858G>T	3.37:g.141163088G>T	ENSP00000426387:p.Asp620Tyr					ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y	p.D620Y			Q8NAP3	ZBT38_HUMAN			4	2137	+			620						Missense_Mutation	SNP	ENST00000514251.1	37	c.1858G>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146053	0.37923	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.09163	3.47;3.01;3.01;3.01	5.55	2.76	0.32466	.	0.461992	0.22355	N	0.061147	T	0.08044	0.0201	L	0.44542	1.39	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.23419	0.046;0.046	T	0.32161	-0.9917	9	.	.	.	-4.1212	6.2002	0.20571	0.2194:0.3343:0.4463:0.0	.	621;620	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Y	620;620;620;621	ENSP00000424254:D620Y;ENSP00000426387:D620Y;ENSP00000406955:D620Y;ENSP00000372635:D621Y	.	D	+	1	0	ZBTB38	142645778	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	1.371000	0.34250	0.292000	0.22492	-0.898000	0.02899	GAT		0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			73	389	1	0	1.58458e-29	1	1.85199e-29	73	389				
EXT1	2131	broad.mit.edu	37	8	118812091	118812091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118812091G>A	ENST00000378204.2	-	11	2907	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	701	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAGCTCTGTCGCTGGGCAAAG	0.537			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	GRCh37	CM010236	EXT1	M		c.(2101-2103)Cga>Tga		exostosin glycosyltransferase 1							72.0	68.0	69.0					8																	118812091		2203	4300	6503	SO:0001587	stop_gained	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118812091G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2101C>T	8.37:g.118812091G>A	ENSP00000367446:p.Arg701*						p.R701*	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		11	2907	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		701					B2R7V2|Q9BVI9	Nonsense_Mutation	SNP	ENST00000378204.2	37	c.2101C>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	45	11.435230	0.99560	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.96	5.02	0.67125	.	0.056834	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0602	14.3793	0.66900	0.0:0.0:0.7492:0.2508	.	.	.	.	X	701	.	ENSP00000367446:R701X	R	-	1	2	EXT1	118881272	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.565000	0.53798	2.832000	0.97577	0.655000	0.94253	CGA		0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		52	233	0	0	0	1	0	52	233				
STXBP1	6812	broad.mit.edu	37	9	130425614	130425614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425614C>T	ENST00000373299.1	+	7	675	c.560C>T	c.(559-561)cCg>cTg	p.P187L	STXBP1_ENST00000373302.3_Missense_Mutation_p.P187L	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	187					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAGGAGTACCCGGCTGTGCGG	0.612																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(559-561)cCg>cTg		syntaxin binding protein 1							78.0	74.0	76.0					9																	130425614		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130425614C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.560C>T	9.37:g.130425614C>T	ENSP00000362396:p.Pro187Leu					STXBP1_ENST00000373299.1_Missense_Mutation_p.P187L	p.P187L	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			7	699	+			187					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.560C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	31	5.105039	0.94245	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	D;D	0.90004	-2.6;-2.6	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97898	1.0301	10	0.87932	D	0	2.0289	17.2139	0.86937	0.0:1.0:0.0:0.0	.	187;187	P61764;P61764-2	STXB1_HUMAN;.	L	141;187;187	ENSP00000362399:P187L;ENSP00000362396:P187L	ENSP00000362396:P187L	P	+	2	0	STXBP1	129465435	1.000000	0.71417	0.963000	0.40424	0.932000	0.56968	7.661000	0.83786	2.661000	0.90470	0.561000	0.74099	CCG		0.612	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		105	440	0	0	0	1	0	105	440				
MGAT5	4249	broad.mit.edu	37	2	135199477	135199477	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135199477A>G	ENST00000409645.1	+	16	2270	c.2018A>G	c.(2017-2019)gAc>gGc	p.D673G	MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	673					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAGGACAAGGACATGCTGAAG	0.587																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(2017-2019)gAc>gGc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							67.0	69.0	69.0					2																	135199477		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135199477A>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2018A>G	2.37:g.135199477A>G	ENSP00000386377:p.Asp673Gly					MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G	p.D673G			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	16	2270	+			673					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.2018A>G	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858795	0.32884	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.19	5.19	0.71726	.	0.130520	0.64402	D	0.000002	T	0.50137	0.1598	L	0.40543	1.245	0.80722	D	1	B	0.33612	0.419	B	0.38500	0.275	T	0.44636	-0.9315	9	0.22109	T	0.4	-27.4264	12.0579	0.53546	0.8464:0.1536:0.0:0.0	.	673	Q09328	MGT5A_HUMAN	G	673	.	ENSP00000281923:D673G	D	+	2	0	MGAT5	134915947	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.997000	0.76270	2.179000	0.69175	0.459000	0.35465	GAC		0.587	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		49	506	0	0	0	1	0	49	506				
WNT10A	80326	broad.mit.edu	37	2	219757865	219757865	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219757865T>C	ENST00000258411.3	+	4	1759	c.1126T>C	c.(1126-1128)Tgc>Cgc	p.C376R		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	376					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCAGCATGTGCTGCGGCCG	0.701																																						ENST00000258411.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(1126-1128)Tgc>Cgc		wingless-type MMTV integration site family, member 10A							6.0	8.0	7.0					2																	219757865		2027	3991	6018	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219757865T>C	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.1126T>C	2.37:g.219757865T>C	ENSP00000258411:p.Cys376Arg						p.C376R	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1759	+		Renal(207;0.0474)	376					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.1126T>C	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577249	0.45902	.	.	ENSG00000135925	ENST00000258411	D	0.91686	-2.89	4.87	4.87	0.63330	.	0.111087	0.64402	D	0.000002	D	0.97626	0.9222	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98813	1.0744	10	0.87932	D	0	.	13.8041	0.63220	0.0:0.0:0.0:1.0	.	376	Q9GZT5	WN10A_HUMAN	R	376	ENSP00000258411:C376R	ENSP00000258411:C376R	C	+	1	0	WNT10A	219466109	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.907000	0.69908	2.046000	0.60703	0.459000	0.35465	TGC		0.701	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		14	127	0	0	0	1	0	14	127				
ALOX12B	242	broad.mit.edu	37	17	7978974	7978974	+	Silent	SNP	C	C	A	rs149967531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7978974C>A	ENST00000319144.4	-	12	1853	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	531	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACTGCAATTCCGGATCACCCT	0.582										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1591-1593)ccG>ccT		arachidonate 12-lipoxygenase, 12R type							198.0	193.0	195.0					17																	7978974		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7978974C>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1593G>T	17.37:g.7978974C>A		Multiple Myeloma(8;0.094)				ALOX12B_ENST00000577351.1_Intron	p.P531P	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			12	1853	-			531			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.1593G>T	CCDS11129.1																																																																																				0.582	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			218	987	1	0	8.90406e-74	1	1.13387e-73	218	987				
MYCBP2	23077	broad.mit.edu	37	13	77692486	77692486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77692486G>A	ENST00000360084.5	-	57	8287	c.584C>T	c.(583-585)cCt>cTt	p.P195L	MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000544440.2_Intron|MYCBP2_ENST00000482517.1_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)		CTGAAGCTGAGGCTGCTGGAA	0.463																																						ENST00000360084.5																			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.(583-585)cCt>cTt		MYC binding protein 2, E3 ubiquitin protein ligase							25.0	23.0	24.0					13																	77692486		876	1991	2867	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77692486G>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	ENST00000360084.5:c.584C>T	13.37:g.77692486G>A	ENSP00000353197:p.Pro195Leu					MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000544440.2_Intron|MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000482517.1_5'UTR	p.P195L			O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	57	8287	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2674						Missense_Mutation	SNP	ENST00000360084.5	37	c.584C>T		.	.	.	.	.	.	.	.	.	.	G	26.6	4.751635	0.89753	.	.	ENSG00000005810	ENST00000360084	T	0.48836	0.8	5.83	4.97	0.65823	.	.	.	.	.	T	0.64159	0.2573	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67201	-0.5730	6	0.54805	T	0.06	.	16.5963	0.84797	0.0:0.1346:0.8654:0.0	.	.	.	.	L	195	ENSP00000353197:P195L	ENSP00000353197:P195L	P	-	2	0	MYCBP2	76590487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	1.428000	0.47296	0.655000	0.94253	CCT		0.463	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		NM_015057		9	58	0	0	0	1	0	9	58				
IDH1	3417	broad.mit.edu	37	2	209113362	209113362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209113362G>A	ENST00000415913.1	-	4	526	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	IDH1_ENST00000446179.1_Missense_Mutation_p.R49C|IDH1_ENST00000345146.2_Missense_Mutation_p.R49C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	49					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GTGGCATCACGATTCTCTATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		0				NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(145-147)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							146.0	119.0	128.0					2																	209113362		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113362G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.145C>T	2.37:g.209113362G>A	ENSP00000390265:p.Arg49Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R49C|IDH1_ENST00000345146.2_Missense_Mutation_p.R49C	p.R49C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	526	-			49					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.145C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759019	0.69763	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282;ENST00000417583;ENST00000451391	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.4	4.51	0.55191	Isopropylmalate dehydrogenase-like domain (2);	0.047279	0.85682	D	0.000000	T	0.81375	0.4809	H	0.99347	4.525	0.80722	D	1	B	0.18166	0.026	B	0.14578	0.011	T	0.82853	-0.0252	10	0.87932	D	0	-30.6508	15.4143	0.74952	0.0:0.0:0.8597:0.1403	.	49	O75874	IDHC_HUMAN	C	49	ENSP00000260985:R49C;ENSP00000410513:R49C;ENSP00000390265:R49C;ENSP00000391075:R49C;ENSP00000409045:R49C;ENSP00000396787:R49C	ENSP00000260985:R49C	R	-	1	0	IDH1	208821607	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	6.406000	0.73276	1.246000	0.43901	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			99	278	0	0	0	1	0	99	278				
SHROOM4	57477	broad.mit.edu	37	X	50350432	50350432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50350432C>T	ENST00000289292.7	-	6	3993	c.3710G>A	c.(3709-3711)gGc>gAc	p.G1237D	SHROOM4_ENST00000376020.2_Missense_Mutation_p.G1237D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1121D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1237	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCACCAATGCCATAGTAGCA	0.507																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3709-3711)gGc>gAc		shroom family member 4							69.0	59.0	62.0					X																	50350432		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350432C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3710G>A	X.37:g.50350432C>T	ENSP00000289292:p.Gly1237Asp					SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1237D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1121D	p.G1237D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3735	-	Ovarian(276;0.236)		1237			ASD2.		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.3710G>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393881	0.42410	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.28666	1.6;1.6;1.6	4.39	4.39	0.52855	Apx/shroom, ASD2 (2);	0.202088	0.33980	N	0.004366	T	0.36193	0.0958	N	0.22421	0.69	0.39622	D	0.970049	D	0.89917	1.0	D	0.97110	1.0	T	0.06197	-1.0840	10	0.18276	T	0.48	.	11.2573	0.49060	0.0:1.0:0.0:0.0	.	1237	Q9ULL8	SHRM4_HUMAN	D	1237;1237;1121	ENSP00000289292:G1237D;ENSP00000365188:G1237D;ENSP00000421450:G1121D	ENSP00000289292:G1237D	G	-	2	0	SHROOM4	50367172	0.967000	0.33354	0.959000	0.39883	0.982000	0.71751	2.926000	0.48892	2.427000	0.82271	0.513000	0.50165	GGC		0.507	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		40	225	0	0	0	1	0	40	225				
TSSK2	23617	broad.mit.edu	37	22	19119450	19119450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119450G>A	ENST00000399635.2	+	1	1130	c.538G>A	c.(538-540)Gca>Aca	p.A180T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGGGTCGGCAGCATATGCAGC	0.592																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(538-540)Gca>Aca		testis-specific serine kinase 2							99.0	96.0	97.0					22																	19119450		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119450G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.538G>A	22.37:g.19119450G>A	ENSP00000382544:p.Ala180Thr					DGCR14_ENST00000252137.6_3'UTR	p.A180T	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1130	+	Colorectal(54;0.0993)		180			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.538G>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241807	0.58995	.	.	ENSG00000206203	ENST00000399635	T	0.64991	-0.13	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000140	T	0.75671	0.3881	L	0.53780	1.695	0.39311	D	0.96508	D	0.89917	1.0	D	0.85130	0.997	T	0.75204	-0.3400	10	0.39692	T	0.17	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	180	Q96PF2	TSSK2_HUMAN	T	180	ENSP00000382544:A180T	ENSP00000382544:A180T	A	+	1	0	TSSK2	17499450	0.322000	0.24634	0.088000	0.20740	0.068000	0.16541	2.742000	0.47434	2.487000	0.83934	0.655000	0.94253	GCA		0.592	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			61	642	0	0	0	1	0	61	642				
PPP4R4	57718	broad.mit.edu	37	14	94711935	94711935	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94711935T>A	ENST00000304338.3	+	13	1510	c.1356T>A	c.(1354-1356)gcT>gcA	p.A452A		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	452					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TACTAGATGCTCTTATAGATC	0.313																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(1354-1356)gcT>gcA		protein phosphatase 4, regulatory subunit 4							88.0	90.0	89.0					14																	94711935		2203	4299	6502	SO:0001819	synonymous_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94711935T>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1356T>A	14.37:g.94711935T>A							p.A452A	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			13	1510	+			452					Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	c.1356T>A	CCDS9921.1																																																																																				0.313	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		43	200	0	0	0	1	0	43	200				
ADAR	103	broad.mit.edu	37	1	154575024	154575024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154575024G>A	ENST00000368474.4	-	2	293	c.94C>T	c.(94-96)Cca>Tca	p.P32S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	32					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAAGATCCTGGCCCAGGCTGC	0.522																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(94-96)Cca>Tca		adenosine deaminase, RNA-specific							44.0	45.0	45.0					1																	154575024		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154575024G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.94C>T	1.37:g.154575024G>A	ENSP00000357459:p.Pro32Ser					ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S	p.P32S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	293	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		32					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.94C>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401588	0.25291	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.10960	2.82;2.83;2.84	4.56	1.43	0.22495	.	2.127140	0.01524	N	0.018491	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.20671	0.047;0.002;0.002;0.001	B;B;B;B	0.15484	0.013;0.005;0.005;0.003	T	0.38845	-0.9642	10	0.15952	T	0.53	0.7111	6.0133	0.19588	0.1653:0.0:0.6847:0.15	.	32;32;32;32	A2IBT1;P55265-3;P55265-2;P55265	.;.;.;DSRAD_HUMAN	S	75;32;27	ENSP00000292205:P75S;ENSP00000357459:P32S;ENSP00000431794:P27S	ENSP00000292205:P75S	P	-	1	0	ADAR	152841648	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.689000	0.25437	0.191000	0.20236	0.561000	0.74099	CCA		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		68	257	0	0	0	1	0	68	257				
COL6A6	131873	broad.mit.edu	37	3	130287198	130287198	+	Silent	SNP	C	C	T	rs72992282	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130287198C>T	ENST00000358511.6	+	5	2182	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	COL6A6_ENST00000453409.2_Silent_p.G717G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	717	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCACCAAGGGCGCCCGGCCCA	0.498													C|||	4	0.000798722	0.003	0.0	5008	,	,		19656	0.0		0.0	False		,,,				2504	0.0					ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2149-2151)ggC>ggT		collagen, type VI, alpha 6		C		10,3860		0,10,1925	86.0	89.0	88.0		2151	-1.1	1.0	3	dbSNP_130	88	0,8256		0,0,4128	no	coding-synonymous	COL6A6	NM_001102608.1		0,10,6053	TT,TC,CC		0.0,0.2584,0.0825		717/2264	130287198	10,12116	1935	4128	6063	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130287198C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2151C>T	3.37:g.130287198C>T						COL6A6_ENST00000453409.2_Silent_p.G717G	p.G717G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			5	2182	+			717			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.2151C>T	CCDS46911.1																																																																																				0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		75	410	0	0	0	1	0	75	410				
FANCM	57697	broad.mit.edu	37	14	45667953	45667953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45667953C>T	ENST00000267430.5	+	22	5908	c.5823C>T	c.(5821-5823)acC>acT	p.T1941T	FANCM_ENST00000542564.2_Silent_p.T1915T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1941	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAAGAAACCGCAGATTTGC	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5821-5823)acC>acT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							87.0	87.0	87.0					14																	45667953		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45667953C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5823C>T	14.37:g.45667953C>T						FANCM_ENST00000542564.2_Silent_p.T1915T	p.T1941T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			22	5908	+			1941			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.5823C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557919	0.27827	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.7	-2.24	0.06909	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26985	-1.0087	4	.	.	.	.	0.468	0.00527	0.3728:0.2053:0.1324:0.2895	.	.	.	.	C	909	.	.	R	+	1	0	FANCM	44737703	0.213000	0.23551	0.955000	0.39395	0.996000	0.88848	-0.980000	0.03770	-1.052000	0.03222	-0.269000	0.10298	CGC		0.413	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		82	367	0	0	0	1	0	82	367				
USP37	57695	broad.mit.edu	37	2	219374752	219374752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219374752C>T	ENST00000258399.3	-	11	1387	c.975G>A	c.(973-975)tgG>tgA	p.W325*	USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*|USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*|USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	325					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGGTTTATTCCAGCCAGTGT	0.423																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(973-975)tgG>tgA		ubiquitin specific peptidase 37							114.0	115.0	114.0					2																	219374752		2203	4300	6503	SO:0001587	stop_gained	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219374752C>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.975G>A	2.37:g.219374752C>T	ENSP00000258399:p.Trp325*					USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*|USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*|USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*	p.W325*	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	11	1387	-		Renal(207;0.0915)	325					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Nonsense_Mutation	SNP	ENST00000258399.3	37	c.975G>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	39	7.418739	0.98272	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6154	20.0951	0.97834	0.0:1.0:0.0:0.0	.	.	.	.	X	325;325;253;325	.	ENSP00000258399:W325X	W	-	3	0	USP37	219082996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.108000	0.64609	2.753000	0.94483	0.467000	0.42956	TGG		0.423	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		44	491	0	0	0	1	0	44	491				
PCDHGA10	56106	broad.mit.edu	37	5	140793471	140793471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140793471G>A	ENST00000398610.2	+	1	729	c.729G>A	c.(727-729)gcG>gcA	p.A243A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCGGTCTTCA	0.582																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(727-729)gcG>gcA									44.0	47.0	46.0					5																	140793471		2051	4181	6232	SO:0001819	synonymous_variant	0							g.chr5:140793471G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.729G>A	5.37:g.140793471G>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A243A	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	729	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.729G>A	CCDS47292.1																																																																																				0.582	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		51	205	0	0	0	1	0	51	205				
SLC44A1	23446	broad.mit.edu	37	9	108136980	108136980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108136980C>T	ENST00000374720.3	+	13	1843	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC44A1_ENST00000374724.1_Silent_p.I532I|SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374723.1_Silent_p.I532I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	532					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGCTACCATCAACACAGTAG	0.388																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1594-1596)atC>atT		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						163.0	150.0	154.0					9																	108136980		2203	4300	6503	SO:0001819	synonymous_variant	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108136980C>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1596C>T	9.37:g.108136980C>T						SLC44A1_ENST00000374723.1_Silent_p.I532I|SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374724.1_Silent_p.I532I	p.I532I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			13	1843	+			532					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	ENST00000374720.3	37	c.1596C>T	CCDS6763.1																																																																																				0.388	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		103	490	0	0	0	1	0	103	490				
VRTN	55237	broad.mit.edu	37	14	74824322	74824322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74824322G>A	ENST00000256362.4	+	2	1077	c.836G>A	c.(835-837)gGc>gAc	p.G279D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	279					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGTGAACCTGGCCTCAGCTAC	0.657																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(835-837)gGc>gAc		vertebrae development associated							43.0	42.0	42.0					14																	74824322		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824322G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.836G>A	14.37:g.74824322G>A	ENSP00000256362:p.Gly279Asp						p.G279D	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1077	+			279					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.836G>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607874	0.28623	.	.	ENSG00000133980	ENST00000256362	T	0.45668	0.89	5.2	3.24	0.37175	.	0.281816	0.30630	N	0.009214	T	0.43456	0.1248	L	0.58583	1.82	0.31997	N	0.603875	D	0.53619	0.961	P	0.55749	0.783	T	0.48007	-0.9072	10	0.11182	T	0.66	-4.3903	4.7827	0.13210	0.3285:0.0:0.6715:0.0	.	279	Q9H8Y1	VRTN_HUMAN	D	279	ENSP00000256362:G279D	ENSP00000256362:G279D	G	+	2	0	VRTN	73894075	1.000000	0.71417	0.967000	0.41034	0.184000	0.23303	3.071000	0.50041	1.432000	0.47375	0.561000	0.74099	GGC		0.657	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		44	342	0	0	0	1	0	44	342				
ADCK4	79934	broad.mit.edu	37	19	41198107	41198107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41198107G>A	ENST00000324464.3	-	15	1769	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C|NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	490						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCCAGCTTGCGGTGCAGGGCA	0.682																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(1468-1470)Cgc>Tgc		aarF domain containing kinase 4							27.0	27.0	27.0					19																	41198107		2197	4294	6491	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41198107G>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1468C>T	19.37:g.41198107G>A	ENSP00000315118:p.Arg490Cys					ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C|ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C	p.R490C	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		15	1769	-			490					Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.1468C>T	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872838	0.91587	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	D;D;D	0.86562	-2.14;-1.5;-1.5	5.43	3.31	0.37934	.	0.051479	0.85682	N	0.000000	D	0.94948	0.8366	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94152	0.7406	10	0.87932	D	0	-16.2832	9.2545	0.37575	0.0764:0.0:0.7776:0.146	.	490;449	Q96D53;Q96D53-2	ADCK4_HUMAN;.	C	490;449;449	ENSP00000315118:R490C;ENSP00000412839:R449C;ENSP00000243583:R449C	ENSP00000243583:R449C	R	-	1	0	ADCK4	45889947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	0.675000	0.31264	0.561000	0.74099	CGC		0.682	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		18	57	0	0	0	1	0	18	57				
GNB4	59345	broad.mit.edu	37	3	179123034	179123034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179123034G>A	ENST00000232564.3	-	9	1146	c.860C>T	c.(859-861)gCt>gTt	p.A287V	RP11-145M9.5_ENST00000608131.1_RNA|GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	287					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATCGTAACCAGCCAACAAGAG	0.403																																					Melanoma(105;1405 1491 7265 20440 33721)	ENST00000232564.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16						c.(859-861)gCt>gTt		guanine nucleotide binding protein (G protein), beta polypeptide 4							116.0	108.0	110.0					3																	179123034		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179123034G>A	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.860C>T	3.37:g.179123034G>A	ENSP00000232564:p.Ala287Val					GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	p.A287V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		9	1146	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		287					B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.860C>T	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497553	0.96355	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.59906	0.23;0.23	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.094329	0.64402	N	0.000001	T	0.75686	0.3883	M	0.85041	2.73	0.80722	D	1	D	0.58620	0.983	P	0.55545	0.778	T	0.79722	-0.1684	10	0.66056	D	0.02	-28.153	19.5074	0.95125	0.0:0.0:1.0:0.0	.	287	Q9HAV0	GBB4_HUMAN	V	287	ENSP00000232564:A287V;ENSP00000419693:A287V	ENSP00000232564:A287V	A	-	2	0	GNB4	180605728	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	9.721000	0.98766	2.678000	0.91216	0.655000	0.94253	GCT		0.403	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		82	382	0	0	0	1	0	82	382				
SNAPC4	6621	broad.mit.edu	37	9	139283031	139283031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139283031C>T	ENST00000298532.2	-	10	1356	c.988G>A	c.(988-990)Gcc>Acc	p.A330T		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACTGGAAGGCGCTGCGGCTG	0.592																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(988-990)Gcc>Acc		small nuclear RNA activating complex, polypeptide 4, 190kDa							103.0	88.0	93.0					9																	139283031		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139283031C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.988G>A	9.37:g.139283031C>T	ENSP00000298532:p.Ala330Thr						p.A330T	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	10	1356	-		Myeloproliferative disorder(178;0.0511)	330			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.988G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653575	0.67472	.	.	ENSG00000165684	ENST00000298532	T	0.32515	1.45	5.0	4.04	0.47022	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.118118	0.56097	D	0.000036	T	0.57388	0.2050	M	0.83483	2.645	0.42751	D	0.99377	D	0.89917	1.0	D	0.80764	0.994	T	0.65034	-0.6266	10	0.66056	D	0.02	-27.2109	14.2545	0.66043	0.0:0.7444:0.2556:0.0	.	330	Q5SXM2	SNPC4_HUMAN	T	330	ENSP00000298532:A330T	ENSP00000298532:A330T	A	-	1	0	SNAPC4	138402852	0.971000	0.33674	0.996000	0.52242	0.564000	0.35744	2.302000	0.43637	2.327000	0.79052	0.561000	0.74099	GCC		0.592	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		75	329	0	0	0	1	0	75	329				
MAK16	84549	broad.mit.edu	37	8	33356000	33356000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33356000C>T	ENST00000360128.6	+	10	1213	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	252						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						ATGGTAAATCCTCCAGTGAGG	0.448																																						ENST00000360128.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						c.(754-756)tcC>tcT		MAK16 homolog (S. cerevisiae)							79.0	76.0	77.0					8																	33356000		2203	4300	6503	SO:0001819	synonymous_variant	84549					nucleolus		g.chr8:33356000C>T	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.756C>T	8.37:g.33356000C>T						TTI2_ENST00000519356.1_Intron	p.S252S	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN			10	1213	+			252					B2RB44|Q5U5T1|Q86UC4|Q96SY6	Silent	SNP	ENST00000360128.6	37	c.756C>T	CCDS6089.1																																																																																				0.448	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		56	252	0	0	0	1	0	56	252				
OR5M11	219487	broad.mit.edu	37	11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A	rs200285217		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(544-546)cCg>cTg		olfactory receptor, family 5, subfamily M, member 11		A	LEU/PRO	0,4126		0,0,2063	46.0	48.0	48.0		545	2.0	0.5	11		48	4,8436		0,4,4216	yes	missense	OR5M11	NM_001005245.1	98	0,4,6279	AA,AG,GG		0.0474,0.0,0.0318	probably-damaging	182/306	56310189	4,12562	2063	4220	6283	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310189G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.545C>T	11.37:g.56310189G>A	ENSP00000432417:p.Pro182Leu						p.P182L	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	568	-			182					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.545C>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535136	0.27475	0.0	4.74E-4	ENSG00000255223	ENST00000528616	T	0.00224	8.51	4.89	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.80422	2.495	0.21445	N	0.99969	D	0.89917	1.0	D	0.74348	0.983	T	0.47032	-0.9148	9	0.72032	D	0.01	.	7.6395	0.28286	0.1337:0.0:0.6314:0.2349	.	182	Q96RB7	OR5MB_HUMAN	L	182	ENSP00000432417:P182L	ENSP00000432417:P182L	P	-	2	0	OR5M11	56066765	0.003000	0.15002	0.493000	0.27502	0.234000	0.25298	1.152000	0.31663	0.040000	0.15660	-1.789000	0.00628	CCG		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		25	141	0	0	0	1	0	25	141				
ZNF117	51351	broad.mit.edu	37	7	64438880	64438880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64438880C>T	ENST00000282869.6	-	4	2353	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	357					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)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTTTCTCTCCAGTATGAATT	0.388																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(1069-1071)Gga>Aga		zinc finger protein 117							72.0	75.0	74.0					7																	64438880		2152	4275	6427	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438880C>T	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1069G>A	7.37:g.64438880C>T	ENSP00000282869:p.Gly357Arg						p.G357R	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	2353	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	357					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.1069G>A	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.884060	0.51908	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.26223	1.75	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	M	0.66939	2.045	0.41668	D	0.98922	P	0.37398	0.593	B	0.38683	0.279	T	0.10222	-1.0639	9	0.62326	D	0.03	.	7.6354	0.28264	0.0:1.0:0.0:0.0	.	357	Q03924	ZN117_HUMAN	R	357	ENSP00000282869:G357R	ENSP00000282869:G357R	G	-	1	0	ZNF117	64076315	0.029000	0.19370	0.150000	0.22450	0.056000	0.15407	2.078000	0.41567	0.518000	0.28383	0.313000	0.20887	GGA		0.388	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		73	383	0	0	0	1	0	73	383				
SCARB2	950	broad.mit.edu	37	4	77084388	77084388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77084388G>A	ENST00000264896.2	-	11	1737	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	SCARB2_ENST00000452464.2_Missense_Mutation_p.S320F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	463					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTCATCCATGGATCCCTGTCC	0.458																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(1387-1389)tCc>tTc		scavenger receptor class B, member 2							182.0	160.0	167.0					4																	77084388		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77084388G>A	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1388C>T	4.37:g.77084388G>A	ENSP00000264896:p.Ser463Phe					SCARB2_ENST00000452464.2_Missense_Mutation_p.S320F	p.S463F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		11	1737	-			463					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1388C>T	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294914	0.40594	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;D	0.90563	-0.32;-2.69	5.87	5.03	0.67393	.	0.439500	0.26899	N	0.021921	D	0.84786	0.5549	L	0.29908	0.895	0.29519	N	0.853613	B;B	0.18310	0.027;0.005	B;B	0.12156	0.007;0.004	T	0.79492	-0.1781	10	0.51188	T	0.08	.	12.2472	0.54576	0.0795:0.0:0.9205:0.0	.	320;463	E7EM68;Q14108	.;SCRB2_HUMAN	F	463;320	ENSP00000264896:S463F;ENSP00000399154:S320F	ENSP00000264896:S463F	S	-	2	0	SCARB2	77303412	0.976000	0.34144	0.992000	0.48379	0.714000	0.41099	2.816000	0.48026	1.489000	0.48450	0.655000	0.94253	TCC		0.458	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		16	365	0	0	0	1	0	16	365				
RAB11FIP1	80223	broad.mit.edu	37	8	37732351	37732351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732351G>T	ENST00000330843.4	-	3	1316	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	435					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGACAGCAAAGAGGACCTCCT	0.562																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1303-1305)tCt>tAt		RAB11 family interacting protein 1 (class I)							122.0	113.0	116.0					8																	37732351		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732351G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1304C>A	8.37:g.37732351G>T	ENSP00000331342:p.Ser435Tyr					RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y	p.S435Y	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1316	-		Lung NSC(58;0.118)|all_lung(54;0.195)	435					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1304C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050679	0.55218	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.38240	1.95;1.95;1.23;1.15	4.91	4.91	0.64330	.	0.312246	0.28093	N	0.016627	T	0.56819	0.2011	M	0.72894	2.215	0.34544	D	0.71056	D;D;D;D	0.76494	0.989;0.99;0.993;0.999	P;D;P;D	0.64595	0.768;0.912;0.884;0.927	T	0.70171	-0.4945	10	0.56958	D	0.05	-6.8887	14.5917	0.68371	0.0:0.1465:0.8535:0.0	.	287;287;435;435	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	Y	435;435;287;287	ENSP00000287263:S435Y;ENSP00000331342:S435Y;ENSP00000430009:S287Y;ENSP00000430680:S287Y	ENSP00000287263:S435Y	S	-	2	0	RAB11FIP1	37851509	1.000000	0.71417	0.925000	0.36789	0.612000	0.37316	4.742000	0.62103	2.264000	0.75181	0.563000	0.77884	TCT		0.562	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		84	787	1	0	2.13026e-44	1	2.60662e-44	84	787				
PRDM4	11108	broad.mit.edu	37	12	108128027	108128027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108128027G>A	ENST00000228437.5	-	12	2825	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	789					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAATACACAGCACTGTTAAT	0.418																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2365-2367)gCt>gTt		PR domain containing 4							157.0	148.0	151.0					12																	108128027		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108128027G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2366C>T	12.37:g.108128027G>A	ENSP00000228437:p.Ala789Val						p.A789V	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2825	-			789					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.2366C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019506	0.54576	.	.	ENSG00000110851	ENST00000228437	T	0.10573	2.86	6.03	4.12	0.48240	.	0.097739	0.64402	D	0.000002	T	0.06371	0.0164	N	0.12182	0.205	0.25555	N	0.987046	B	0.20052	0.041	B	0.17098	0.017	T	0.24764	-1.0151	10	0.66056	D	0.02	0.0607	8.4723	0.32993	0.0821:0.2235:0.6943:0.0	.	789	Q9UKN5	PRDM4_HUMAN	V	789	ENSP00000228437:A789V	ENSP00000228437:A789V	A	-	2	0	PRDM4	106652157	0.983000	0.35010	0.412000	0.26496	0.855000	0.48748	3.027000	0.49697	1.569000	0.49696	-0.263000	0.10527	GCT		0.418	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		166	608	0	0	0	1	0	166	608				
SRD5A3	79644	broad.mit.edu	37	4	56236230	56236230	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56236230G>T	ENST00000264228.4	+	5	1157	c.929G>T	c.(928-930)aGg>aTg	p.R310M	SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	310					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	CCGAAGCATAGGAAAGCTTTC	0.433																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(928-930)aGg>aTg		steroid 5 alpha-reductase 3							128.0	125.0	126.0					4																	56236230		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56236230G>T	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.929G>T	4.37:g.56236230G>T	ENSP00000264228:p.Arg310Met					SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA	p.R310M	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		5	1157	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		310					Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.929G>T	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568963	0.65765	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.61158	0.13;0.13	5.69	5.69	0.88448	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89071	0.3469	10	0.87932	D	0	-25.3173	19.8051	0.96529	0.0:0.0:1.0:0.0	.	310	Q9H8P0	PORED_HUMAN	M	310;174	ENSP00000264228:R310M;ENSP00000424714:R174M	ENSP00000264228:R310M	R	+	2	0	SRD5A3	55930987	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	9.624000	0.98398	2.702000	0.92279	0.591000	0.81541	AGG		0.433	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		136	570	1	0	6.80707e-84	1	8.71856e-84	136	570				
PARM1	25849	broad.mit.edu	37	4	75971390	75971390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75971390G>A	ENST00000307428.7	+	4	1078	c.866G>A	c.(865-867)aGa>aAa	p.R289K	PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	289					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCCTATGGAAGACTTTTGGAC	0.493																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(865-867)aGa>aAa		prostate androgen-regulated mucin-like protein 1							106.0	106.0	106.0					4																	75971390		2096	4242	6338	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75971390G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.866G>A	4.37:g.75971390G>A	ENSP00000370224:p.Arg289Lys					PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	p.R289K	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			4	1078	+			289					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.866G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581020	0.86748	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.21543	2.0;2.0	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000011	T	0.35364	0.0929	L	0.27053	0.805	0.37882	D	0.930413	D	0.89917	1.0	D	0.83275	0.996	T	0.19614	-1.0300	10	0.87932	D	0	-16.8324	16.9624	0.86275	0.0:0.0:1.0:0.0	.	289	Q6UWI2	PARM1_HUMAN	K	47;289	ENSP00000424276:R47K;ENSP00000370224:R289K	ENSP00000370224:R289K	R	+	2	0	PARM1	76190414	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.093000	0.71422	2.873000	0.98535	0.561000	0.74099	AGA		0.493	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		25	126	0	0	0	1	0	25	126				
MUC5B	727897	broad.mit.edu	37	11	1275968	1275968	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1275968C>T	ENST00000529681.1	+	35	15580	c.15522C>T	c.(15520-15522)aaC>aaT	p.N5174N	MUC5B_ENST00000447027.1_Silent_p.N5177N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5174	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCAAGAACGGCGTGCTTG	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15529-15531)aaC>aaT		mucin 5B, oligomeric mucus/gel-forming							72.0	75.0	74.0					11																	1275968		2131	4240	6371	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1275968C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15522C>T	11.37:g.1275968C>T						MUC5B_ENST00000529681.1_Silent_p.N5174N	p.N5177N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	35	15589	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5174			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.15531C>T	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		33	147	0	0	0	1	0	33	147				
ZCCHC11	23318	broad.mit.edu	37	1	52941046	52941046	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52941046T>C	ENST00000371544.3	-	13	2447	c.2185A>G	c.(2185-2187)Aaa>Gaa	p.K729E	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	729					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGCTTATTTTCCCCTTCTCT	0.408																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2185-2187)Aaa>Gaa		zinc finger, CCHC domain containing 11							140.0	144.0	143.0					1																	52941046		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52941046T>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2185A>G	1.37:g.52941046T>C	ENSP00000360599:p.Lys729Glu					ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E	p.K729E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			13	2447	-			729					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2185A>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525816	0.44969	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.52295	0.67;0.68;0.7;0.74	5.49	5.49	0.81192	.	0.209202	0.49305	D	0.000159	T	0.28234	0.0697	L	0.32530	0.975	0.80722	D	1	B;P	0.44429	0.209;0.835	B;B	0.35278	0.051;0.199	T	0.18967	-1.0320	10	0.06365	T	0.9	.	10.0083	0.41970	0.0:0.0758:0.0:0.9242	.	488;729	E9PKX1;Q5TAX3	.;TUT4_HUMAN	E	729;729;658;488	ENSP00000257177:K729E;ENSP00000360599:K729E;ENSP00000433486:K658E;ENSP00000435256:K488E	ENSP00000257177:K729E	K	-	1	0	ZCCHC11	52713634	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	2.911000	0.48774	2.077000	0.62373	0.455000	0.32223	AAA		0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		171	605	0	0	0	1	0	171	605				
MET	4233	broad.mit.edu	37	7	116411905	116411905	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116411905C>A	ENST00000318493.6	+	14	3131	c.2944C>A	c.(2944-2946)Ctg>Atg	p.L982M	MET_ENST00000397752.3_Missense_Mutation_p.L964M			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTTTAAGATCTGGGCAGTGA	0.458			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		5	Deletion - In frame(4)|Unknown(1)	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)	lung(5)	NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2890-2892)Ctg>Atg		met proto-oncogene							62.0	58.0	59.0					7																	116411905		1869	4103	5972	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116411905C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2944C>A	7.37:g.116411905C>A	ENSP00000317272:p.Leu982Met					MET_ENST00000318493.6_Missense_Mutation_p.L982M	p.L964M	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		14	3090	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	964					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2890C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672763	0.67928	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.76968	-1.06;-0.91	5.76	5.76	0.90799	.	0.066380	0.64402	D	0.000007	D	0.87297	0.6142	M	0.78916	2.43	0.80722	D	1	D;D	0.63880	0.993;0.959	D;P	0.70227	0.968;0.65	D	0.87240	0.2266	10	0.54805	T	0.06	.	14.4921	0.67657	0.0:0.9299:0.0:0.0701	.	982;964	P08581-2;P08581	.;MET_HUMAN	M	964;982	ENSP00000380860:L964M;ENSP00000317272:L982M	ENSP00000317272:L982M	L	+	1	2	MET	116199141	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.423000	0.44705	2.882000	0.98803	0.655000	0.94253	CTG		0.458	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			34	177	1	0	2.32173e-10	1	2.46079e-10	34	177				
CSMD1	64478	broad.mit.edu	37	8	3141743	3141743	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3141743C>A	ENST00000520002.1	-	27	4634	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1360	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGAAGGTGCTGTGGATGTC	0.577											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(4078-4080)aGc>aTc		CUB and Sushi multiple domains 1							100.0	115.0	110.0					8																	3141743		2141	4267	6408	SO:0001583	missense	64478					integral to membrane		g.chr8:3141743C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4079G>T	8.37:g.3141743C>A	ENSP00000430733:p.Ser1360Ile		OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000523387.1_5'UTR	p.S1360I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4634	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1360			CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4079G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157117|4.157117	0.78114|0.78114	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.68903	.|-0.36;-0.36;-0.36;-0.36;-0.36	5.12|5.12	5.12|5.12	0.69794|0.69794	.|CUB (5);	.|0.146217	.|0.48767	.|D	.|0.000167	D|D	0.87273|0.87273	0.6136|0.6136	H|H	0.94306|0.94306	3.52|3.52	0.46131|0.46131	D|D	0.998881|0.998881	.|D;D;D	.|0.89917	.|0.999;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.975	D|D	0.90898|0.90898	0.4766|0.4766	5|10	.|0.72032	.|D	.|0.01	.|.	18.573|18.573	0.91144|0.91144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1360;1360;1360	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	H|I	839|1360;1360;1222;1359;1359;1359	.|ENSP00000383047:S1360I;ENSP00000430733:S1360I;ENSP00000441462:S1359I;ENSP00000446243:S1359I;ENSP00000441675:S1359I	.|ENSP00000320445:S1222I	Q|S	-|-	3|2	2|0	CSMD1|CSMD1	3129150|3129150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.850000|4.850000	0.62889|0.62889	2.375000|2.375000	0.81037|0.81037	0.563000|0.563000	0.77884|0.77884	CAG|AGC		0.577	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	86	1	0	1.08611e-07	1	1.12939e-07	12	86				
CLDN3	1365	broad.mit.edu	37	7	73184317	73184317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184317G>A	ENST00000395145.2	-	1	283	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	21					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGCAGCACACGATGGTGCCCA	0.682																																						ENST00000395145.2																			0				kidney(1)|lung(1)	2						c.(61-63)atC>atT		claudin 3							40.0	33.0	35.0					7																	73184317		2203	4299	6502	SO:0001819	synonymous_variant	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73184317G>A	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.63C>T	7.37:g.73184317G>A							p.I21I	NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN			1	283	-		Lung NSC(55;0.159)	21						Silent	SNP	ENST00000395145.2	37	c.63C>T	CCDS5559.1																																																																																				0.682	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		23	103	0	0	0	1	0	23	103				
FPR1	2357	broad.mit.edu	37	19	52250008	52250008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52250008G>T	ENST00000595042.1	-	3	381	c.240C>A	c.(238-240)ttC>ttA	p.F80L	FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	80					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGACCATGAAGAATGGCAAAG	0.512																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(238-240)ttC>ttA		formyl peptide receptor 1	Nedocromil(DB00716)						138.0	107.0	118.0					19																	52250008		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52250008G>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.240C>A	19.37:g.52250008G>T	ENSP00000471493:p.Phe80Leu					FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	p.F80L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	381	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	80					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.240C>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	1.356	-0.590198	0.03799	.	.	ENSG00000171051	ENST00000304748	T	0.37235	1.21	3.72	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	0.157463	0.41500	D	0.000871	T	0.30978	0.0782	L	0.53617	1.68	0.09310	N	0.999998	B	0.23806	0.091	B	0.38803	0.282	T	0.42616	-0.9441	10	0.08179	T	0.78	.	8.2744	0.31864	0.3968:0.0:0.6032:0.0	.	80	P21462	FPR1_HUMAN	L	80	ENSP00000302707:F80L	ENSP00000302707:F80L	F	-	3	2	FPR1	56941820	0.109000	0.22037	0.001000	0.08648	0.002000	0.02628	0.430000	0.21428	-0.301000	0.08882	-0.251000	0.11542	TTC		0.512	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		66	301	1	0	9.10829e-22	1	1.02804e-21	66	301				
TAF6L	10629	broad.mit.edu	37	11	62545792	62545792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62545792G>A	ENST00000294168.3	+	5	622	c.421G>A	c.(421-423)Gca>Aca	p.A141T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	141					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGGGAACCTGGCACCTCAAGG	0.542																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(421-423)Gca>Aca		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							141.0	119.0	127.0					11																	62545792		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62545792G>A	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.421G>A	11.37:g.62545792G>A	ENSP00000294168:p.Ala141Thr					TMEM223_ENST00000527073.1_Intron	p.A141T	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			5	622	+			141					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.421G>A	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362314	0.61403	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.44083	0.93;0.97	4.94	4.94	0.65067	.	0.063502	0.64402	D	0.000013	T	0.23094	0.0558	N	0.08118	0	0.80722	D	1	B;B	0.23937	0.016;0.094	B;B	0.15870	0.01;0.014	T	0.08289	-1.0729	10	0.15499	T	0.54	-1.7793	15.6975	0.77512	0.0:0.0:1.0:0.0	.	141;141	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	T	141	ENSP00000294168:A141T;ENSP00000434662:A141T	ENSP00000294168:A141T	A	+	1	0	TAF6L	62302368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.559000	0.90708	2.570000	0.86706	0.462000	0.41574	GCA		0.542	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		33	199	0	0	0	1	0	33	199				
RRNAD1	51093	broad.mit.edu	37	1	156705674	156705674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156705674G>A	ENST00000368216.4	+	7	1909	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000476229.1_Missense_Mutation_p.G142E|RRNAD1_ENST00000368218.4_Missense_Mutation_p.G265E	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	427						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TATTCTACTGGACCGGCTGCT	0.612																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1279-1281)Gac>Aac		ribosomal RNA adenine dimethylase domain containing 1							119.0	106.0	110.0					1																	156705674		2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156705674G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1279G>A	1.37:g.156705674G>A	ENSP00000357199:p.Asp427Asn					RRNAD1_ENST00000476229.1_Missense_Mutation_p.G142E|RRNAD1_ENST00000368218.4_Missense_Mutation_p.G265E	p.D427N	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			7	1909	+			427					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.1279G>A	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.901412|4.901412	0.92035|0.92035	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000368216|ENST00000368218;ENST00000476229	D|.	0.91407|.	-2.84|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75568|0.75568	0.3867|0.3867	M|M	0.92026|0.92026	3.265|3.265	0.35039|0.35039	D|D	0.759537|0.759537	D|D	0.89917|0.61697	1.0|0.99	D|P	0.97110|0.54856	1.0|0.762	T|T	0.82880|0.82880	-0.0238|-0.0238	10|8	0.87932|0.72032	D|D	0|0.01	-28.4456|-28.4456	17.2034|17.2034	0.86912|0.86912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	427|265	Q96FB5|Q4VX71	RRNAD_HUMAN|.	N|E	427|265;142	ENSP00000357199:D427N|.	ENSP00000357199:D427N|ENSP00000357201:G265E	D|G	+|+	1|2	0|0	RRNAD1|RRNAD1	154972298|154972298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.857000|8.857000	0.92250|0.92250	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.612	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		12	605	0	0	0	1	0	12	605				
ASB10	136371	broad.mit.edu	37	7	150878501	150878501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150878501C>T	ENST00000420175.2	-	3	653	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q|ASB10_ENST00000275838.1_Missense_Mutation_p.R210Q|ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000422024.1_Missense_Mutation_p.R255Q			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	210					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTCGGACCGACCATCCAC	0.637																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(763-765)cGg>cAg		ankyrin repeat and SOCS box containing 10							27.0	25.0	25.0					7																	150878501		2201	4291	6492	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878501C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.629G>A	7.37:g.150878501C>T	ENSP00000391137:p.Arg210Gln					ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000420175.2_Missense_Mutation_p.R210Q|ASB10_ENST00000275838.1_Missense_Mutation_p.R210Q|ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q	p.R255Q	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	889	-			210					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.764G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338483	0.41398	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.14	3.33	0.38152	Ankyrin repeat-containing domain (3);	0.350110	0.30602	N	0.009273	T	0.46073	0.1374	N	0.13327	0.33	0.31035	N	0.716972	P;D;D	0.89917	0.865;1.0;1.0	B;D;D	0.72625	0.391;0.974;0.978	T	0.46735	-0.9170	10	0.25751	T	0.34	-12.42	10.0366	0.42133	0.0:0.7716:0.0:0.2284	.	195;210;255	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	Q	210;195;255;255;210	ENSP00000275838:R210Q;ENSP00000367098:R195Q;ENSP00000401369:R255Q;ENSP00000398247:R255Q;ENSP00000391137:R210Q	ENSP00000275838:R210Q	R	-	2	0	ASB10	150509434	0.011000	0.17503	0.996000	0.52242	0.680000	0.39746	0.308000	0.19314	0.673000	0.31224	-0.140000	0.14226	CGG		0.637	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		42	177	0	0	0	1	0	42	177				
MARVELD3	91862	broad.mit.edu	37	16	71674597	71674597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71674597C>T	ENST00000299952.4	+	3	943	c.900C>T	c.(898-900)ctC>ctT	p.L300L	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	303	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGAAGTGGCTCCTCACGGAGG	0.567																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(898-900)ctC>ctT		MARVEL domain containing 3							54.0	51.0	52.0					16																	71674597		2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71674597C>T	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.900C>T	16.37:g.71674597C>T						PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	p.L300L	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	943	+		Ovarian(137;0.125)	303			MARVEL.		A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000299952.4	37	c.900C>T	CCDS32478.1																																																																																				0.567	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		18	261	0	0	0	1	0	18	261				
ZFP69	339559	broad.mit.edu	37	1	40961175	40961175	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40961175T>G	ENST00000372706.1	+	6	2031	c.1025T>G	c.(1024-1026)cTt>cGt	p.L342R	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.L342R			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CGCTCATCACTTAATCAGCAT	0.433																																						ENST00000372706.1																			0											c.(1024-1026)cTt>cGt		ZFP69 zinc finger protein							95.0	90.0	92.0					1																	40961175		2203	4300	6503	SO:0001583	missense	339559							g.chr1:40961175T>G	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1025T>G	1.37:g.40961175T>G	ENSP00000361791:p.Leu342Arg					ZFP69_ENST00000372705.3_Missense_Mutation_p.L342R|RP11-656D10.3_ENST00000450713.1_RNA	p.L342R							6	2031	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.1025T>G	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800702	0.70567	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.53640	0.61;0.61	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39146	N	0.001443	T	0.70789	0.3264	M	0.86805	2.84	0.48571	D	0.999673	D	0.89917	1.0	D	0.79784	0.993	T	0.76285	-0.3015	10	0.72032	D	0.01	-12.2071	12.6904	0.56972	0.0:0.0:0.0:1.0	.	342	Q49AA0	ZN642_HUMAN	R	342	ENSP00000361791:L342R;ENSP00000361790:L342R	ENSP00000361790:L342R	L	+	2	0	ZNF642	40733762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.807000	0.86032	2.302000	0.77476	0.533000	0.62120	CTT		0.433	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		36	353	0	0	0	1	0	36	353				
TMF1	7110	broad.mit.edu	37	3	69087861	69087861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69087861C>A	ENST00000398559.2	-	8	2221	c.2005G>T	c.(2005-2007)Gat>Tat	p.D669Y	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D672Y|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	669					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGTGAAGATCAGTAAGTTCT	0.358																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2014-2016)Gat>Tat		TATA element modulatory factor 1							111.0	102.0	104.0					3																	69087861		1859	4104	5963	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69087861C>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2005G>T	3.37:g.69087861C>A	ENSP00000381567:p.Asp669Tyr					CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D669Y|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	p.D672Y	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	8	2260	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	669					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2014G>T	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421412	0.83559	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.20738	2.05;2.05	5.72	5.72	0.89469	.	0.047409	0.85682	D	0.000000	T	0.42675	0.1213	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.70935	0.971;0.851	T	0.14980	-1.0453	10	0.72032	D	0.01	-21.9043	19.8709	0.96851	0.0:1.0:0.0:0.0	.	672;669	P82094-2;P82094	.;TMF1_HUMAN	Y	669;672;585	ENSP00000381567:D669Y;ENSP00000438706:D672Y	ENSP00000348582:D585Y	D	-	1	0	TMF1	69170551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	2.698000	0.92095	0.591000	0.81541	GAT		0.358	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		100	446	1	0	1.11883e-47	1	1.37812e-47	100	446				
LUZP1	7798	broad.mit.edu	37	1	23419834	23419834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23419834C>T	ENST00000302291.4	-	4	1722	c.921G>A	c.(919-921)tcG>tcA	p.S307S	LUZP1_ENST00000374623.3_Silent_p.S307S|LUZP1_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000314174.5_Silent_p.S307S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	307					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTTCCAACGATTCAAAGT	0.338																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(919-921)tcG>tcA		leucine zipper protein 1							178.0	170.0	173.0					1																	23419834		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23419834C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.921G>A	1.37:g.23419834C>T						LUZP1_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000374623.3_Silent_p.S307S|LUZP1_ENST00000314174.5_Silent_p.S307S	p.S307S			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1722	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	307					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.921G>A	CCDS30628.1																																																																																				0.338	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		57	503	0	0	0	1	0	57	503				
EIF2AK3	9451	broad.mit.edu	37	2	88874864	88874864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874864C>A	ENST00000303236.3	-	13	2438	c.2137G>T	c.(2137-2139)Gct>Tct	p.A713S	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S|EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	713	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GGTGAAGGAGCTATGATTTCA	0.448																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2137-2139)Gct>Tct		eukaryotic translation initiation factor 2-alpha kinase 3							160.0	164.0	163.0					2																	88874864		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874864C>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2137G>T	2.37:g.88874864C>A	ENSP00000307235:p.Ala713Ser					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S|EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA	p.A713S	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	2438	-			713			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2137G>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685924	0.47991	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73469	-0.63;-0.57;-0.75	6.06	6.06	0.98353	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159141	0.56097	D	0.000022	T	0.59376	0.2189	L	0.28740	0.885	0.47737	D	0.999505	B	0.18741	0.03	B	0.15484	0.013	T	0.53387	-0.8446	10	0.10902	T	0.67	-23.204	10.8679	0.46866	0.0:0.8611:0.0:0.1389	.	713	Q9NZJ5	E2AK3_HUMAN	S	562;713;562;592	ENSP00000408325:A562S;ENSP00000307235:A713S;ENSP00000412076:A592S	ENSP00000307235:A713S	A	-	1	0	EIF2AK3	88655979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.988000	0.29616	2.882000	0.98803	0.655000	0.94253	GCT		0.448	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		263	750	1	0	1.09717e-106	1	1.41195e-106	263	750				
EXPH5	23086	broad.mit.edu	37	11	108383192	108383192	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108383192T>C	ENST00000265843.4	-	6	3152	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E	EXPH5_ENST00000428840.1_Silent_p.E938E|EXPH5_ENST00000525344.1_Silent_p.E1007E|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Silent_p.E826E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1014					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGTGTCAAGTTCAGAAACTT	0.383																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3040-3042)gaA>gaG		exophilin 5							89.0	83.0	85.0					11																	108383192		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383192T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3042A>G	11.37:g.108383192T>C						EXPH5_ENST00000525344.1_Silent_p.E1007E|EXPH5_ENST00000443411.1_Silent_p.E826E|EXPH5_ENST00000428840.1_Silent_p.E938E	p.E1014E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3152	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1014					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.3042A>G	CCDS8341.1																																																																																				0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		67	283	0	0	0	1	0	67	283				
ITGA5	3678	broad.mit.edu	37	12	54797065	54797065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54797065G>T	ENST00000293379.4	-	18	2081	c.1820C>A	c.(1819-1821)gCt>gAt	p.A607D	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	607					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAGTTGAGAGCGATGTGAAT	0.572																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1819-1821)gCt>gAt		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							164.0	181.0	175.0					12																	54797065		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797065G>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1820C>A	12.37:g.54797065G>T	ENSP00000293379:p.Ala607Asp					RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.A607D	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			18	2081	-			607					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1820C>A	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047893	0.55110	.	.	ENSG00000161638	ENST00000293379	T	0.44482	0.92	5.17	4.25	0.50352	Integrin alpha-2 (1);	0.221093	0.44483	N	0.000444	T	0.44095	0.1277	L	0.58101	1.795	0.49915	D	0.999838	P	0.48350	0.909	P	0.48141	0.568	T	0.33369	-0.9871	10	0.40728	T	0.16	.	8.805	0.34932	0.0:0.1646:0.6651:0.1703	.	607	P08648	ITA5_HUMAN	D	607	ENSP00000293379:A607D	ENSP00000293379:A607D	A	-	2	0	ITGA5	53083332	0.982000	0.34865	1.000000	0.80357	0.860000	0.49131	2.325000	0.43840	1.247000	0.43917	0.561000	0.74099	GCT		0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			166	780	1	0	2.0813e-75	1	2.65401e-75	166	780				
LAMB4	22798	broad.mit.edu	37	7	107677867	107677867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107677867C>T	ENST00000388781.3	-	30	4728	c.4645G>A	c.(4645-4647)Gcc>Acc	p.A1549T	AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1549	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGCTTTTGGGCTCCATCTGCT	0.388																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4645-4647)Gcc>Acc		laminin, beta 4							220.0	220.0	220.0					7																	107677867		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107677867C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4645G>A	7.37:g.107677867C>T	ENSP00000373433:p.Ala1549Thr					LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000483484.1_5'UTR	p.A1549T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			30	4728	-			1549			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4645G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204673	0.58234	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.38401	1.14;1.14;1.46;1.18	4.89	3.01	0.34805	.	0.437967	0.18968	N	0.126218	T	0.34600	0.0903	L	0.39898	1.24	0.53688	D	0.99997	P;B	0.43788	0.817;0.005	P;B	0.47864	0.559;0.006	T	0.06698	-1.0812	10	0.54805	T	0.06	.	7.4753	0.27371	0.0:0.7801:0.0:0.2199	.	1549;1549	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1549;1549;575;1549	ENSP00000205386:A1549T;ENSP00000373433:A1549T;ENSP00000416562:A575T;ENSP00000373432:A1549T	ENSP00000205386:A1549T	A	-	1	0	LAMB4	107465103	0.014000	0.17966	0.430000	0.26722	0.739000	0.42172	0.892000	0.28322	0.685000	0.31468	-0.136000	0.14681	GCC		0.388	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		146	814	0	0	0	1	0	146	814				
C6orf62	81688	broad.mit.edu	37	6	24709066	24709066	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24709066C>A	ENST00000378119.4	-	4	2670	c.503G>T	c.(502-504)gGa>gTa	p.G168V	RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V|C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	168						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GACAACGATTCCAGTCTTGTC	0.383																																						ENST00000378119.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						c.(502-504)gGa>gTa		chromosome 6 open reading frame 62							204.0	181.0	189.0					6																	24709066		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24709066C>A	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.503G>T	6.37:g.24709066C>A	ENSP00000367359:p.Gly168Val					C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V|C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V	p.G168V	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN			4	2670	-			168					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.503G>T	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493228	0.96339	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.50001	0.76;0.76;0.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56823	-0.7915	10	0.87932	D	0	-7.5051	20.8794	0.99867	0.0:1.0:0.0:0.0	.	168	Q9GZU0	CF062_HUMAN	V	168;110;139	ENSP00000367359:G168V;ENSP00000446225:G110V;ENSP00000367342:G139V	ENSP00000367342:G139V	G	-	2	0	C6orf62	24817045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.739000	0.84976	2.941000	0.99782	0.655000	0.94253	GGA		0.383	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		18	595	1	0	7.21436e-19	1	8.02439e-19	18	595				
WDR17	116966	broad.mit.edu	37	4	177073110	177073110	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073110C>A	ENST00000280190.4	+	18	2680	c.2524C>A	c.(2524-2526)Ctt>Att	p.L842I	WDR17_ENST00000393643.2_Missense_Mutation_p.L818I|WDR17_ENST00000508596.1_Missense_Mutation_p.L818I|WDR17_ENST00000507824.2_Missense_Mutation_p.L825I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	842										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATGGTTGAACTTGGAGAGGT	0.328																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2452-2454)Ctt>Att		WD repeat domain 17							91.0	90.0	91.0					4																	177073110		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177073110C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2524C>A	4.37:g.177073110C>A	ENSP00000280190:p.Leu842Ile					WDR17_ENST00000280190.4_Missense_Mutation_p.L842I|WDR17_ENST00000507824.2_Missense_Mutation_p.L825I|WDR17_ENST00000508596.1_Missense_Mutation_p.L818I	p.L818I	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	17	2704	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	842					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2452C>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.94|15.94	2.980614|2.980614	0.53827|0.53827	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.60424|.	0.23;0.25;0.19|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71921|0.71921	0.3397|0.3397	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.921;0.999;0.999|.	B;D;D|.	0.77557|.	0.346;0.99;0.99|.	T|T	0.68014|0.68014	-0.5521|-0.5521	10|5	0.33141|.	T|.	0.24|.	-22.248|-22.248	19.5608|19.5608	0.95371|0.95371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	818;818;842|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	I|N	818;818;842;825|84	ENSP00000422763:L818I;ENSP00000377258:L818I;ENSP00000280190:L842I|.	ENSP00000280190:L842I|.	L|T	+|+	1|2	0|0	WDR17|WDR17	177310104|177310104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.398000|7.398000	0.79919|0.79919	2.631000|2.631000	0.89168|0.89168	0.549000|0.549000	0.68633|0.68633	CTT|ACT		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			43	222	1	0	2.62258e-09	1	2.75829e-09	43	222				
TPP1	1200	broad.mit.edu	37	11	6637257	6637257	+	Missense_Mutation	SNP	C	C	T	rs546003291		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637257C>T	ENST00000299427.6	-	9	1184	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_Missense_Mutation_p.R132H|TPP1_ENST00000534644.1_5'Flank	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	GAAGGTAGGGCGGAACTGGTG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.001					ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(394-396)cGc>cAc		tripeptidyl peptidase I							112.0	97.0	102.0					11																	6637257		2201	4296	6497	SO:0001583	missense	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6637257C>T	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1124G>A	11.37:g.6637257C>T	ENSP00000299427:p.Arg375His					TPP1_ENST00000299427.6_Missense_Mutation_p.R375H	p.R132H			O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	8	1193	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	375					Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	c.395G>A	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478376	0.84747	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.92299	-3.01;-3.01	5.56	5.56	0.83823	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.93712	0.7025	10	0.45353	T	0.12	-10.1855	18.5131	0.90925	0.0:1.0:0.0:0.0	.	375	O14773	TPP1_HUMAN	H	375;132	ENSP00000299427:R375H;ENSP00000437066:R132H	ENSP00000299427:R375H	R	-	2	0	TPP1	6593833	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.159000	0.64923	2.623000	0.88846	0.561000	0.74099	CGC		0.488	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			39	225	0	0	0	1	0	39	225				
GPRC5B	51704	broad.mit.edu	37	16	19883423	19883423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883423C>T	ENST00000300571.2	-	2	936	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	249					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTCATCCAGGCCACCCAGATG	0.622																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(745-747)Gcc>Acc		G protein-coupled receptor, family C, group 5, member B							103.0	106.0	105.0					16																	19883423		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883423C>T	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.745G>A	16.37:g.19883423C>T	ENSP00000300571:p.Ala249Thr					GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T	p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	936	-			249					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.745G>A	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371618	0.61624	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89270	-2.49;-2.49;-2.49	5.44	2.43	0.29744	GPCR, family 3, C-terminal (2);	0.185119	0.47093	N	0.000251	D	0.85031	0.5604	L	0.59436	1.845	0.48135	D	0.999599	B;P	0.36683	0.125;0.565	B;B	0.37015	0.043;0.239	T	0.79279	-0.1869	9	.	.	.	.	10.1545	0.42814	0.0:0.7848:0.0:0.2152	.	275;249	B7Z831;Q9NZH0	.;GPC5B_HUMAN	T	249;249;98;275	ENSP00000300571:A249T;ENSP00000442858:A249T;ENSP00000441775:A275T	.	A	-	1	0	GPRC5B	19790924	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.802000	0.62539	0.414000	0.25790	0.655000	0.94253	GCC		0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			25	223	0	0	0	1	0	25	223				
ARMC8	25852	broad.mit.edu	37	3	138007892	138007892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138007892C>T	ENST00000469044.1	+	20	2095	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	ARMC8_ENST00000538260.1_Silent_p.G577G|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000481646.1_Silent_p.G594G|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000485396.1_Silent_p.G535G|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000393058.3_Silent_p.G598G|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000491704.1_Silent_p.G566G|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Silent_p.G541G	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	608										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATTAATAGGGCCATTCACATG	0.338																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1822-1824)ggC>ggT		armadillo repeat containing 8							65.0	59.0	61.0					3																	138007892		1817	4076	5893	SO:0001819	synonymous_variant	25852						binding	g.chr3:138007892C>T		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1824C>T	3.37:g.138007892C>T						ARMC8_ENST00000491704.1_Silent_p.G566G|ARMC8_ENST00000538260.1_Silent_p.G577G|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000481646.1_Silent_p.G594G|ARMC8_ENST00000461822.1_Silent_p.G541G|ARMC8_ENST00000485396.1_Silent_p.G535G|NME9_ENST00000536478.1_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000393058.3_Silent_p.G598G|NME9_ENST00000317876.4_Intron	p.G608G	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN			20	2095	+			608					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37	c.1824C>T																																																																																					0.338	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		21	98	0	0	0	1	0	21	98				
PDE6B	5158	broad.mit.edu	37	4	655986	655986	+	Missense_Mutation	SNP	C	C	T	rs201541131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:655986C>T	ENST00000496514.1	+	13	1699	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PDE6B_ENST00000255622.6_Missense_Mutation_p.R560C|PDE6B_ENST00000429163.2_Missense_Mutation_p.R281C|RP11-1191J2.5_ENST00000609172.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	560					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CCACAACTGGCGCCACGGCTT	0.622													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18508	0.0		0.0	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1678-1680)Cgc>Tgc		phosphodiesterase 6B, cGMP-specific, rod, beta							50.0	39.0	42.0					4																	655986		2197	4289	6486	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:655986C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1678C>T	4.37:g.655986C>T	ENSP00000420295:p.Arg560Cys					PDE6B_ENST00000496514.1_Missense_Mutation_p.R560C|PDE6B_ENST00000429163.2_Missense_Mutation_p.R281C	p.R560C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			13	1721	+			560					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1678C>T	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544052	0.65198	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78816	-1.21;-1.21;-1.21	4.41	3.54	0.40534	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.86343	2.81	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70016	0.967;0.924	D	0.88428	0.3033	10	0.87932	D	0	.	11.1833	0.48642	0.1854:0.8145:0.0:0.0	.	560;560	P35913;P35913-2	PDE6B_HUMAN;.	C	560;560;281	ENSP00000255622:R560C;ENSP00000420295:R560C;ENSP00000406334:R281C	ENSP00000255622:R560C	R	+	1	0	PDE6B	645986	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.559000	0.36320	0.800000	0.34041	0.558000	0.71614	CGC		0.622	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		11	43	0	0	0	1	0	11	43				
UGDH	7358	broad.mit.edu	37	4	39523021	39523021	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39523021T>C	ENST00000316423.6	-	2	454	c.112A>G	c.(112-114)Aat>Gat	p.N38D	UGDH_ENST00000515398.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.N38D|UGDH_ENST00000506179.1_Missense_Mutation_p.N38D|UGDH_ENST00000507089.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	38					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CTTGATTCATTGACATCAACA	0.378																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(112-114)Aat>Gat		UDP-glucose 6-dehydrogenase	NADH(DB00157)						160.0	142.0	148.0					4																	39523021		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39523021T>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.112A>G	4.37:g.39523021T>C	ENSP00000319501:p.Asn38Asp					UGDH_ENST00000506179.1_Missense_Mutation_p.N38D|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.N38D	p.N38D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			2	454	-			38					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.112A>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639124	0.67244	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	6.07	6.07	0.98685	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.11284	0.12	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.15052	0.012;0.003	T	0.57894	-0.7732	10	0.25106	T	0.35	-3.6669	15.8218	0.78654	0.0:0.0:0.0:1.0	.	38;38	B3KUU2;O60701	.;UGDH_HUMAN	D	38;38;38;51;38;38;38;38	ENSP00000319501:N38D;ENSP00000422909:N38D;ENSP00000421757:N38D;ENSP00000421954:N51D;ENSP00000425834:N38D;ENSP00000422603:N38D;ENSP00000422565:N38D;ENSP00000427708:N38D	ENSP00000319501:N38D	N	-	1	0	UGDH	39199416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.326000	0.78906	0.533000	0.62120	AAT		0.378	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		98	404	0	0	0	1	0	98	404				
MYT1	4661	broad.mit.edu	37	20	62859375	62859375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62859375C>T	ENST00000360149.4	+	16	1981	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MYT1_ENST00000328439.1_Intron|MYT1_ENST00000536311.1_Intron			Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGAGATTTTCGTGTGTTTTA	0.438																																					GBM(59;481 1041 20555 21139 33705)	ENST00000360149.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1762-1764)tCg>tTg		myelin transcription factor 1							41.0	43.0	42.0					20																	62859375		2202	4300	6502	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62859375C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000360149.4:c.1763C>T	20.37:g.62859375C>T	ENSP00000353269:p.Ser588Leu					MYT1_ENST00000536311.1_Intron|MYT1_ENST00000328439.1_Intron	p.S588L			Q01538	MYT1_HUMAN			16	1981	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		0					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000360149.4	37	c.1763C>T		.	.	.	.	.	.	.	.	.	.	C	12.96	2.094669	0.36952	.	.	ENSG00000196132	ENST00000360149	T	0.44881	0.91	3.77	1.77	0.24775	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21759	-1.0236	7	.	.	.	.	5.8585	0.18732	0.0:0.5511:0.0:0.4489	.	588	Q6P6D5	.	L	588	ENSP00000353269:S588L	.	S	+	2	0	MYT1	62329819	0.001000	0.12720	0.001000	0.08648	0.209000	0.24338	0.290000	0.18975	0.382000	0.24878	0.650000	0.86243	TCG		0.438	MYT1-201	KNOWN	basic	protein_coding	protein_coding		NM_004535		21	86	0	0	0	1	0	21	86				
RELN	5649	broad.mit.edu	37	7	103138682	103138682	+	Silent	SNP	G	G	A	rs201097384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138682G>A	ENST00000428762.1	-	54	8844	c.8685C>T	c.(8683-8685)cgC>cgT	p.R2895R	RELN_ENST00000343529.5_Silent_p.R2895R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.R2895R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGTCAAAGCGTTCCTTCA	0.373													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16702	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8683-8685)cgC>cgT		reelin							99.0	87.0	91.0					7																	103138682		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138682G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8685C>T	7.37:g.103138682G>A						CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R2895R|RELN_ENST00000424685.2_Silent_p.R2895R	p.R2895R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8844	-			2895					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.8685C>T	CCDS47680.1																																																																																				0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		58	311	0	0	0	1	0	58	311				
MASTL	84930	broad.mit.edu	37	10	27459101	27459101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27459101G>A	ENST00000375940.4	+	8	1270	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MASTL_ENST00000342386.6_Missense_Mutation_p.D405N|MASTL_ENST00000375946.4_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTAGAACTGGATGTAAATAA	0.438																																						ENST00000375946.4																			0				breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1213-1215)Gat>Aat		microtubule associated serine/threonine kinase-like							80.0	84.0	83.0					10																	27459101		2203	4300	6503	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459101G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1213G>A	10.37:g.27459101G>A	ENSP00000365107:p.Asp405Asn					MASTL_ENST00000375940.4_Missense_Mutation_p.D405N|MASTL_ENST00000342386.6_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR	p.D405N	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN			8	1816	+			405			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1213G>A	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379084	0.24944	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.78003	-1.14;-1.14;-1.14	5.92	3.91	0.45181	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.694533	0.14607	N	0.309297	T	0.75110	0.3805	M	0.67953	2.075	0.09310	N	1	P;P;P	0.41848	0.646;0.514;0.763	B;B;B	0.41723	0.365;0.216;0.229	T	0.64542	-0.6383	10	0.30854	T	0.27	-13.2781	10.2052	0.43109	0.0:0.1064:0.6707:0.2228	.	405;405;405	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	N	405	ENSP00000365113:D405N;ENSP00000343446:D405N;ENSP00000365107:D405N	ENSP00000343446:D405N	D	+	1	0	MASTL	27499107	0.000000	0.05858	0.829000	0.32907	0.393000	0.30537	0.040000	0.13905	1.484000	0.48361	0.650000	0.86243	GAT		0.438	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		92	431	0	0	0	1	0	92	431				
OBSCN	84033	broad.mit.edu	37	1	228559432	228559432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559432C>T	ENST00000422127.1	+	94	20997	c.20953C>T	c.(20953-20955)Ctg>Ttg	p.L6985L	OBSCN_ENST00000570156.2_Silent_p.L7942L|OBSCN_ENST00000366707.4_Silent_p.L4619L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6985	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCACAGCGACTGCCTTCAGC	0.692																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23824-23826)Ctg>Ttg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							16.0	19.0	18.0					1																	228559432		1906	4066	5972	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559432C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20953C>T	1.37:g.228559432C>T						OBSCN_ENST00000422127.1_Silent_p.L6985L|OBSCN_ENST00000366707.4_Silent_p.L4619L	p.L7942L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23898	+		Prostate(94;0.0405)	6985					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.23824C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381544	0.24944	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.69	-0.906	0.10524	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	1.1631	0.01810	0.2763:0.291:0.2699:0.1629	.	.	.	.	I	1601	.	.	T	+	2	0	OBSCN	226626055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.188000	0.09642	-0.330000	0.08514	-0.320000	0.08662	ACT		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		43	200	0	0	0	1	0	43	200				
ZNF606	80095	broad.mit.edu	37	19	58490962	58490962	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490962A>G	ENST00000341164.4	-	7	1706	c.1086T>C	c.(1084-1086)caT>caC	p.H362H	ZNF606_ENST00000536132.1_Silent_p.H272H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAATTTTTTGATGTTCCATAA	0.343																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1084-1086)caT>caC		zinc finger protein 606							105.0	93.0	97.0					19																	58490962		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490962A>G	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1086T>C	19.37:g.58490962A>G						ZNF606_ENST00000536132.1_Silent_p.H272H	p.H362H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1706	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	362					A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.1086T>C	CCDS12968.1																																																																																				0.343	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		111	399	0	0	0	1	0	111	399				
SLC35F3	148641	broad.mit.edu	37	1	234041356	234041356	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234041356G>T	ENST00000366618.3	+	2	280	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGTACTTGGTGGTGGACGAGG	0.657																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(133-135)gtG>gtT		solute carrier family 35, member F3							51.0	55.0	54.0					1																	234041356		2203	4300	6503	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234041356G>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.135G>T	1.37:g.234041356G>T							p.V45V	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	280	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	0					Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366618.3	37	c.135G>T	CCDS1600.1																																																																																				0.657	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	NM_173508		106	364	1	0	2.97704e-61	1	3.74727e-61	106	364				
KMT2E	55904	broad.mit.edu	37	7	104742339	104742339	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104742339G>T	ENST00000311117.3	+	17	2439	c.1894G>T	c.(1894-1896)Gca>Tca	p.A632S	KMT2E_ENST00000334914.7_5'UTR|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Missense_Mutation_p.A632S|KMT2E_ENST00000334877.4_Missense_Mutation_p.A632S	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	632					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTAGGAACAAGCAAAAGAAGA	0.338																																						ENST00000334877.4																			0											c.(1894-1896)Gca>Tca		lysine (K)-specific methyltransferase 2E							32.0	35.0	34.0					7																	104742339		2202	4298	6500	SO:0001583	missense	55904							g.chr7:104742339G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1894G>T	7.37:g.104742339G>T	ENSP00000312379:p.Ala632Ser					KMT2E_ENST00000257745.4_Missense_Mutation_p.A632S|KMT2E_ENST00000311117.3_Missense_Mutation_p.A632S|KMT2E_ENST00000334914.7_5'UTR	p.A632S							17	2428	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.1894G>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317550	0.40996	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91521	-2.86;-2.51;-2.86	5.93	4.88	0.63580	.	0.507283	0.21612	N	0.071778	D	0.85208	0.5644	L	0.38175	1.15	0.80722	D	1	B	0.27853	0.191	B	0.26770	0.073	T	0.80231	-0.1468	10	0.13470	T	0.59	.	16.0082	0.80377	0.0741:0.0:0.9259:0.0	.	632	Q8IZD2	MLL5_HUMAN	S	632;632;632;552;632	ENSP00000312379:A632S;ENSP00000335599:A632S;ENSP00000257745:A632S	ENSP00000257745:A632S	A	+	1	0	MLL5	104529575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.559000	0.60796	2.826000	0.97356	0.655000	0.94253	GCA		0.338	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			15	208	1	0	1.05317e-09	1	1.11087e-09	15	208				
CD14	929	broad.mit.edu	37	5	140011662	140011662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140011662C>T	ENST00000302014.6	-	2	1536	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CD14_ENST00000401743.2_Missense_Mutation_p.D303N	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	303				D -> E (in Ref. 5; AAC83816). {ECO:0000305}.	apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGAGATCGAGCACTCTG	0.602																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(907-909)Gat>Aat		CD14 molecule							59.0	58.0	58.0					5																	140011662		2203	4300	6503	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140011662C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.907G>A	5.37:g.140011662C>T	ENSP00000304236:p.Asp303Asn					CD14_ENST00000401743.2_Missense_Mutation_p.D303N	p.D303N	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1536	-			303	D -> E (in Ref. 5; AAC83816).				Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.907G>A	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375894	0.61735	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	T;T	0.19938	2.11;2.11	6.06	4.2	0.49525	.	0.000000	0.51477	D	0.000087	T	0.19805	0.0476	M	0.64404	1.975	0.30579	N	0.762722	P	0.41947	0.766	B	0.36504	0.226	T	0.29150	-1.0021	10	0.87932	D	0	-14.6982	7.7506	0.28894	0.0:0.7523:0.1631:0.0846	.	303	P08571	CD14_HUMAN	N	303	ENSP00000304236:D303N;ENSP00000385519:D303N	ENSP00000304236:D303N	D	-	1	0	CD14	139991846	0.364000	0.24997	0.607000	0.28956	0.961000	0.63080	1.209000	0.32357	1.584000	0.49913	0.655000	0.94253	GAT		0.602	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		58	265	0	0	0	1	0	58	265				
IQCK	124152	broad.mit.edu	37	16	19838353	19838353	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19838353C>T	ENST00000320394.6	+	9	1395	c.696C>T	c.(694-696)cgC>cgT	p.R232R	IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000541926.1_Missense_Mutation_p.A204V	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	232										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCAGGTTCGCTGTGATCCTG	0.448																																						ENST00000541926.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(610-612)gCt>gTt		IQ motif containing K							120.0	116.0	118.0					16																	19838353		2197	4300	6497	SO:0001819	synonymous_variant	124152							g.chr16:19838353C>T	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.696C>T	16.37:g.19838353C>T						IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000320394.6_Silent_p.R232R	p.204_204insV			Q8N0W5	IQCK_HUMAN			7	633	+			0					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.611C>T	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554189	0.45487	.	.	ENSG00000174628	ENST00000541926	.	.	.	5.73	2.24	0.28232	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.80722	D	1	P	0.35628	0.513	B	0.34093	0.175	T	0.06935	-1.0799	6	.	.	.	-17.3005	3.5784	0.07943	0.0:0.4875:0.2148:0.2977	.	204	B4DXE1	.	V	204	.	.	A	+	2	0	IQCK	19745854	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	0.930000	0.28858	0.867000	0.35654	0.655000	0.94253	GCT		0.448	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		82	392	0	0	0	1	0	82	392				
LPHN2	23266	broad.mit.edu	37	1	82302695	82302695	+	Missense_Mutation	SNP	G	G	A	rs138982442	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82302695G>A	ENST00000370728.1	+	5	671	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	LPHN2_ENST00000335786.5_Missense_Mutation_p.R9Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R9Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R9Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.R9Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R9Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R9Q			O95490	LPHN2_HUMAN	latrophilin 2	9					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCAGAATGCGAAGTCTGTGG	0.333													G|||	3	0.000599042	0.0	0.0	5008	,	,		17624	0.0		0.003	False		,,,				2504	0.0					ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(25-27)cGa>cAa		latrophilin 2		G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	171.0	167.0	168.0		26	5.4	1.0	1	dbSNP_134	168	20,8580	14.6+/-50.1	0,20,4280	yes	missense	LPHN2	NM_012302.2	43	0,24,6479	AA,AG,GG		0.2326,0.0908,0.1845	benign	9/1404	82302695	24,12982	2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82302695G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.26G>A	1.37:g.82302695G>A	ENSP00000359763:p.Arg9Gln					LPHN2_ENST00000370725.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R9Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R9Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R9Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R9Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R9Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R9Q	p.R9Q			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	5	671	+			9					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.26G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.19	2.761033	0.49468	9.08E-4	0.002326	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69435	-0.36;-0.4;-0.38;-0.32;-0.33;-0.29;-0.34;-0.35;-0.34;-0.34;-0.33;-0.29;-0.32;-0.38	5.44	5.44	0.79542	.	0.570896	0.14787	N	0.298459	T	0.20536	0.0494	N	0.03608	-0.345	0.28792	N	0.899243	B;B;B;B	0.33494	0.0;0.0;0.0;0.414	B;B;B;B	0.22152	0.0;0.0;0.0;0.038	T	0.02654	-1.1128	10	0.51188	T	0.08	.	7.098	0.25321	0.2085:0.0:0.7915:0.0	.	9;9;9;9	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	Q	9	ENSP00000359756:R9Q;ENSP00000359763:R9Q;ENSP00000359765:R9Q;ENSP00000359762:R9Q;ENSP00000359760:R9Q;ENSP00000359758:R9Q;ENSP00000353006:R9Q;ENSP00000359750:R9Q;ENSP00000359748:R9Q;ENSP00000322270:R9Q;ENSP00000359752:R9Q;ENSP00000378344:R9Q;ENSP00000271029:R9Q;ENSP00000337306:R9Q	ENSP00000271029:R9Q	R	+	2	0	LPHN2	82075283	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.096000	0.57734	2.560000	0.86352	0.467000	0.42956	CGA		0.333	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		51	226	0	0	0	1	0	51	226				
UTP20	27340	broad.mit.edu	37	12	101684568	101684568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101684568C>A	ENST00000261637.4	+	8	967	c.793C>A	c.(793-795)Cca>Aca	p.P265T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	265					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACTCAACTACCATGGATGTT	0.353																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(793-795)Cca>Aca		UTP20, small subunit (SSU) processome component, homolog (yeast)							138.0	127.0	131.0					12																	101684568		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101684568C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.793C>A	12.37:g.101684568C>A	ENSP00000261637:p.Pro265Thr						p.P265T	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			8	967	+			265					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.793C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141487	0.57044	.	.	ENSG00000120800	ENST00000261637	T	0.63580	-0.05	5.36	4.47	0.54385	Armadillo-type fold (1);	0.059656	0.64402	D	0.000002	T	0.69351	0.3101	M	0.71581	2.175	0.58432	D	0.999992	D	0.53885	0.963	P	0.53593	0.73	T	0.67245	-0.5719	10	0.19147	T	0.46	-6.2862	13.8148	0.63285	0.0:0.9266:0.0:0.0734	.	265	O75691	UTP20_HUMAN	T	265	ENSP00000261637:P265T	ENSP00000261637:P265T	P	+	1	0	UTP20	100208699	1.000000	0.71417	0.914000	0.36105	0.261000	0.26267	5.055000	0.64282	1.266000	0.44231	0.650000	0.86243	CCA		0.353	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		8	431	1	0	0.000157383	1	0.000159814	8	431				
TENM4	26011	broad.mit.edu	37	11	78440485	78440485	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78440485A>C	ENST00000278550.7	-	22	3804	c.3342T>G	c.(3340-3342)taT>taG	p.Y1114*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1114					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAATGAAATAATAGGACAGGT	0.547																																						ENST00000278550.7																			0											c.(3340-3342)taT>taG		teneurin transmembrane protein 4							46.0	50.0	49.0					11																	78440485		1915	4114	6029	SO:0001587	stop_gained	26011							g.chr11:78440485A>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3342T>G	11.37:g.78440485A>C	ENSP00000278550:p.Tyr1114*						p.Y1114*	NM_001098816.2	NP_001092286.2					22	3804	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP	ENST00000278550.7	37	c.3342T>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	A	44	11.161978	0.99525	.	.	ENSG00000149256	ENST00000278550	.	.	.	4.64	-3.33	0.04958	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0686	0.80907	0.3206:0.0:0.6794:0.0	.	.	.	.	X	1114	.	.	Y	-	3	2	ODZ4	78118133	0.936000	0.31750	0.802000	0.32245	0.991000	0.79684	0.000000	0.12993	-0.537000	0.06290	0.402000	0.26972	TAT		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			10	58	0	0	0	1	0	10	58				
FLOT2	2319	broad.mit.edu	37	17	27208313	27208313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27208313G>A	ENST00000394908.4	-	9	1099	c.995C>T	c.(994-996)gCg>gTg	p.A332V	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Missense_Mutation_p.A387V|FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	332					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTTGCCCATCGCCTCGATGAC	0.622																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1159-1161)gCg>gTg		flotillin 2							71.0	75.0	74.0					17																	27208313		2098	4222	6320	SO:0001583	missense	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27208313G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.995C>T	17.37:g.27208313G>A	ENSP00000378368:p.Ala332Val					FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.A332V|FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V	p.A387V			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		11	1237	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		332						Missense_Mutation	SNP	ENST00000394908.4	37	c.1160C>T	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	G	35	5.590102	0.96590	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.35421	1.31;1.31	5.77	5.77	0.91146	.	0.047985	0.85682	D	0.000000	T	0.46776	0.1410	M	0.80982	2.52	0.80722	D	1	P	0.48162	0.906	B	0.41412	0.356	T	0.54906	-0.8223	10	0.54805	T	0.06	-27.4188	18.9843	0.92764	0.0:0.0:1.0:0.0	.	332	Q14254	FLOT2_HUMAN	V	387;332	ENSP00000378366:A387V;ENSP00000378368:A332V	ENSP00000378366:A387V	A	-	2	0	FLOT2	24232439	1.000000	0.71417	0.968000	0.41197	0.922000	0.55478	9.753000	0.98904	2.744000	0.94065	0.561000	0.74099	GCG		0.622	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		95	416	0	0	0	1	0	95	416				
COX7C	1350	broad.mit.edu	37	5	85915251	85915251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85915251T>G	ENST00000509578.1	+	2	257	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V|MIR3607_ENST00000362392.1_RNA			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	53					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		TGCTACACCCTTCCTTGTAGT	0.373																																						ENST00000509578.1																			0				endometrium(1)|lung(1)	2						c.(157-159)Ttc>Gtc		cytochrome c oxidase subunit VIIc							175.0	164.0	168.0					5																	85915251		2203	4300	6503	SO:0001583	missense	1350				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr5:85915251T>G	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.157T>G	5.37:g.85915251T>G	ENSP00000425759:p.Phe53Val					COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V	p.F53V			P15954	COX7C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)	2	257	+		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	53					Q6NR81	Missense_Mutation	SNP	ENST00000509578.1	37	c.157T>G	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176737	0.38413	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.80632	-0.1296	8	0.66056	D	0.02	-14.2803	12.1643	0.54120	0.0:0.0:0.0:1.0	.	53	P15954	COX7C_HUMAN	V	53	.	ENSP00000247655:F53V	F	+	1	0	COX7C	85951007	1.000000	0.71417	0.645000	0.29479	0.038000	0.13279	5.524000	0.67105	2.118000	0.64928	0.533000	0.62120	TTC		0.373	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	NM_001867		102	520	0	0	0	1	0	102	520				
CCDC88B	283234	broad.mit.edu	37	11	64109494	64109494	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64109494A>C	ENST00000356786.5	+	8	748	c.704A>C	c.(703-705)gAa>gCa	p.E235A	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	235						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGAGCGAGAACCCCTCTGC	0.642																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(703-705)gAa>gCa		coiled-coil domain containing 88B							31.0	30.0	30.0					11																	64109494		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109494A>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.704A>C	11.37:g.64109494A>C	ENSP00000349238:p.Glu235Ala					CCDC88B_ENST00000463837.1_3'UTR	p.E235A	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	748	+			235					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.704A>C	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	14.33	2.504144	0.44558	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.35048	1.33	3.96	2.83	0.33086	.	.	.	.	.	T	0.34832	0.0911	M	0.69358	2.11	0.09310	N	0.999999	B;B	0.21606	0.058;0.058	B;B	0.22152	0.038;0.038	T	0.35325	-0.9793	9	0.62326	D	0.03	.	6.0024	0.19527	0.8807:0.0:0.1193:0.0	.	235;235	B2RTU8;A6NC98	.;CC88B_HUMAN	A	235	ENSP00000349238:E235A	ENSP00000349238:E235A	E	+	2	0	CCDC88B	63866070	0.090000	0.21635	0.001000	0.08648	0.263000	0.26337	2.591000	0.46163	0.718000	0.32166	0.359000	0.22050	GAA		0.642	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		38	177	0	0	0	1	0	38	177				
CASC4	113201	broad.mit.edu	37	15	44581358	44581358	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44581358A>C	ENST00000345795.2	+	1	401	c.131A>C	c.(130-132)gAg>gCg	p.E44A	CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000299957.6_Missense_Mutation_p.E44A	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	44						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CTGCTTCAGGAGGAGGTGGCC	0.662																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(130-132)gAg>gCg		cancer susceptibility candidate 4							48.0	47.0	47.0					15																	44581358		2198	4297	6495	SO:0001583	missense	113201					integral to membrane		g.chr15:44581358A>C	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.131A>C	15.37:g.44581358A>C	ENSP00000335063:p.Glu44Ala					CASC4_ENST00000345795.2_Missense_Mutation_p.E44A|CASC4_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000429162.2_3'UTR	p.E44A	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	1	430	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	44					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.131A>C	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	A	33	5.276396	0.95459	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	.	.	.	5.42	5.42	0.78866	.	0.052169	0.85682	D	0.000000	T	0.68696	0.3029	L	0.53249	1.67	0.58432	D	0.999992	D;D;D	0.71674	0.993;0.998;0.998	P;P;D	0.65987	0.879;0.879;0.94	T	0.64786	-0.6325	9	0.21540	T	0.41	-17.9117	15.44	0.75176	1.0:0.0:0.0:0.0	.	44;44;44	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	A	44;44;44;44;23	.	ENSP00000299957:E44A	E	+	2	0	CASC4	42368650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.050000	0.60909	0.459000	0.35465	GAG		0.662	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		104	435	0	0	0	1	0	104	435				
PCNT	5116	broad.mit.edu	37	21	47817955	47817955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47817955C>T	ENST00000359568.5	+	23	4581	c.4474C>T	c.(4474-4476)Cgc>Tgc	p.R1492C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1492					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGCACGAGCGCGAGGAGTT	0.706																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(4474-4476)Cgc>Tgc		pericentrin							18.0	18.0	18.0					21																	47817955		2188	4293	6481	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47817955C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4474C>T	21.37:g.47817955C>T	ENSP00000352572:p.Arg1492Cys					PCNT_ENST00000480896.1_3'UTR	p.R1492C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			23	4581	+	Breast(49;0.112)		1492					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.4474C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098812	0.56183	.	.	ENSG00000160299	ENST00000359568	T	0.74315	-0.83	4.96	4.96	0.65561	.	0.000000	0.33005	N	0.005383	D	0.85544	0.5721	M	0.83953	2.67	0.46185	D	0.998918	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86913	0.2062	10	0.87932	D	0	.	10.7392	0.46143	0.1895:0.8104:0.0:0.0	.	1374;1492	O95613-2;O95613	.;PCNT_HUMAN	C	1492	ENSP00000352572:R1492C	ENSP00000352572:R1492C	R	+	1	0	PCNT	46642383	1.000000	0.71417	0.914000	0.36105	0.205000	0.24178	1.539000	0.36104	2.564000	0.86499	0.561000	0.74099	CGC		0.706	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		11	41	0	0	0	1	0	11	41				
CLCA2	9635	broad.mit.edu	37	1	86905863	86905863	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86905863C>T	ENST00000370565.4	+	8	1398	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	412	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGCTTATGGCTCTGTGATGA	0.408																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(1234-1236)ggC>ggT		chloride channel accessory 2							161.0	160.0	160.0					1																	86905863		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86905863C>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1236C>T	1.37:g.86905863C>T							p.G412G	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	8	1398	+		Lung NSC(277;0.238)	412			VWFA.		A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.1236C>T	CCDS708.1																																																																																				0.408	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		17	671	0	0	0	1	0	17	671				
PARP14	54625	broad.mit.edu	37	3	122420074	122420074	+	Silent	SNP	G	G	A	rs369759529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122420074G>A	ENST00000474629.2	+	6	2939	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	891	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATGAGGCCCCGAGGTGTGTGT	0.552																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(2671-2673)ccG>ccA		poly (ADP-ribose) polymerase family, member 14		G		0,3864		0,0,1932	38.0	36.0	37.0		2673	0.1	0.0	3		37	1,8257		0,1,4128	no	coding-synonymous	PARP14	NM_017554.2		0,1,6060	AA,AG,GG		0.0121,0.0,0.0082		891/1802	122420074	1,12121	1932	4129	6061	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420074G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2673G>A	3.37:g.122420074G>A							p.P891P	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	2939	+			891			Macro 1.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.2673G>A	CCDS46894.1																																																																																				0.552	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		21	97	0	0	0	1	0	21	97				
ARSB	411	broad.mit.edu	37	5	78264847	78264847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78264847C>A	ENST00000264914.4	-	2	1017	c.481G>T	c.(481-483)Gga>Tga	p.G161*	ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*|ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	161					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GTATCAAATCCTCGGCGGGTT	0.443																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(481-483)Gga>Tga		arylsulfatase B							127.0	124.0	125.0					5																	78264847		2203	4300	6503	SO:0001587	stop_gained	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78264847C>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.481G>T	5.37:g.78264847C>A	ENSP00000264914:p.Gly161*					ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*|ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*	p.G161*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	2	1017	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	161					B2RC20|Q8N322|Q9UDI9	Nonsense_Mutation	SNP	ENST00000264914.4	37	c.481G>T	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	44	11.112110	0.99517	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000264914:G161X	G	-	1	0	ARSB	78300603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.894000	0.99253	0.655000	0.94253	GGA		0.443	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		60	536	1	0	6.25564e-26	1	7.19412e-26	60	536				
STK31	56164	broad.mit.edu	37	7	23749932	23749932	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23749932G>T	ENST00000355870.3	+	1	147	c.28G>T	c.(28-30)Gct>Tct	p.A10S	STK31_ENST00000428484.1_5'Flank|STK31_ENST00000433467.2_Missense_Mutation_p.A10S|STK31_ENST00000354639.3_5'Flank	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	10						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCTTCTAGAGCTTCCGCAAC	0.567																																						ENST00000355870.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(28-30)Gct>Tct		serine/threonine kinase 31							213.0	172.0	186.0					7																	23749932		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23749932G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.28G>T	7.37:g.23749932G>T	ENSP00000348132:p.Ala10Ser					STK31_ENST00000433467.2_Missense_Mutation_p.A10S	p.A10S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN			1	147	+			10					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.28G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	0.228	-1.022901	0.02061	.	.	ENSG00000196335	ENST00000355870;ENST00000433467	T;T	0.67698	-0.28;1.44	3.92	-0.115	0.13560	.	1.139810	0.06538	N	0.742708	T	0.44540	0.1298	N	0.08118	0	0.09310	N	1	B;B	0.22800	0.043;0.075	B;B	0.19946	0.018;0.027	T	0.34502	-0.9826	10	0.51188	T	0.08	0.3504	6.2791	0.20997	0.5233:0.0:0.4767:0.0	.	10;10	B4DZ06;Q9BXU1	.;STK31_HUMAN	S	10	ENSP00000348132:A10S;ENSP00000411852:A10S	ENSP00000348132:A10S	A	+	1	0	STK31	23716457	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.020000	0.12525	-0.036000	0.13669	-0.266000	0.10368	GCT		0.567	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		73	283	1	0	1.356e-25	1	1.55723e-25	73	283				
AARS2	57505	broad.mit.edu	37	6	44270564	44270564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44270564G>A	ENST00000244571.4	-	17	2341	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAGTGACGGCCAGCAGGCG	0.627																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2338-2340)gCc>gTc		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						36.0	35.0	36.0					6																	44270564		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270564G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2339C>T	6.37:g.44270564G>A	ENSP00000244571:p.Ala780Val					TMEM151B_ENST00000438774.2_Intron	p.A780V	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		17	2341	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		780						Missense_Mutation	SNP	ENST00000244571.4	37	c.2339C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360816	0.61403	.	.	ENSG00000124608	ENST00000244571	T	0.71817	-0.6	5.79	5.79	0.91817	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.110343	0.64402	D	0.000008	T	0.62974	0.2472	M	0.71581	2.175	0.80722	D	1	B	0.25390	0.125	B	0.22152	0.038	T	0.65693	-0.6106	10	0.87932	D	0	-17.9853	17.1959	0.86892	0.0:0.0:1.0:0.0	.	780	Q5JTZ9	SYAM_HUMAN	V	780	ENSP00000244571:A780V	ENSP00000244571:A780V	A	-	2	0	AARS2	44378542	1.000000	0.71417	0.965000	0.40720	0.353000	0.29299	6.556000	0.73932	2.733000	0.93635	0.655000	0.94253	GCC		0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		31	137	0	0	0	1	0	31	137				
CCDC73	493860	broad.mit.edu	37	11	32635356	32635356	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635356C>A	ENST00000335185.5	-	16	2551	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	836										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACAATGTATGCTGTCTTTCAT	0.328																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(2506-2508)caG>caT		coiled-coil domain containing 73							142.0	128.0	132.0					11																	32635356		1830	4087	5917	SO:0001583	missense	493860							g.chr11:32635356C>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2508G>T	11.37:g.32635356C>A	ENSP00000335325:p.Gln836His						p.Q836H	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	2551	-	Breast(20;0.112)		836					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.2508G>T	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569548	0.45798	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	1.16	0.20824	.	0.698226	0.13701	N	0.368828	T	0.32376	0.0827	L	0.59436	1.845	0.09310	N	1	B	0.25743	0.133	B	0.21917	0.037	T	0.39313	-0.9620	9	0.72032	D	0.01	.	1.192	0.01867	0.179:0.424:0.1191:0.278	.	836	Q6ZRK6	CCD73_HUMAN	H	836	.	ENSP00000335325:Q836H	Q	-	3	2	CCDC73	32591932	0.765000	0.28485	0.111000	0.21465	0.987000	0.75469	0.274000	0.18680	-0.055000	0.13244	0.650000	0.86243	CAG		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		111	524	1	0	2.38877e-60	1	3.0041e-60	111	524				
CIDEA	1149	broad.mit.edu	37	18	12264367	12264367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12264367C>T	ENST00000320477.9	+	3	310	c.245C>T	c.(244-246)aCc>aTc	p.T82I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	82	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAAGATGGCACCGTGGTGGAC	0.507																																						ENST00000320477.9																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(244-246)aCc>aTc		cell death-inducing DFFA-like effector a							162.0	132.0	142.0					18																	12264367		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12264367C>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.245C>T	18.37:g.12264367C>T	ENSP00000320209:p.Thr82Ile					CIDEA_ENST00000521296.1_3'UTR	p.T82I	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN			3	310	+			82			CIDE-N.		B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.245C>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967822	0.92855	.	.	ENSG00000176194	ENST00000320477	T	0.61392	0.11	5.26	5.26	0.73747	Caspase-activated nuclease CIDE-N (3);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86880	0.2041	10	0.87932	D	0	-27.0824	18.486	0.90830	0.0:1.0:0.0:0.0	.	116;82	Q8N5P9;O60543	.;CIDEA_HUMAN	I	82	ENSP00000320209:T82I	ENSP00000320209:T82I	T	+	2	0	CIDEA	12254367	1.000000	0.71417	0.894000	0.35097	0.990000	0.78478	6.885000	0.75606	2.455000	0.83008	0.484000	0.47621	ACC		0.507	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		51	253	0	0	0	1	0	51	253				
CHRND	1144	broad.mit.edu	37	2	233394759	233394759	+	Missense_Mutation	SNP	C	C	T	rs376642208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233394759C>T	ENST00000258385.3	+	7	762	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CHRND_ENST00000543200.1_Missense_Mutation_p.R229C|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.P207L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	244					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CATCATCCGCCGCAAGCCCCT	0.612																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(730-732)Cgc>Tgc		cholinergic receptor, nicotinic, delta (muscle)		C	CYS/ARG	0,4406		0,0,2203	175.0	144.0	155.0		730	4.3	1.0	2		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRND	NM_000751.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	244/518	233394759	1,13005	2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394759C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.730C>T	2.37:g.233394759C>T	ENSP00000258385:p.Arg244Cys					CHRND_ENST00000543200.1_Missense_Mutation_p.R229C|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.P207L	p.R244C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	762	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	244					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.730C>T	CCDS2494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940607|3.940607	0.73557|0.73557	0.0|0.0	1.16E-4|1.16E-4	ENSG00000135902|ENSG00000135902	ENST00000536614|ENST00000543200;ENST00000258385	T|D;D	0.75050|0.96830	-0.9|-4.14;-4.14	5.18|5.18	4.26|4.26	0.50523|0.50523	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.048932	.|0.85682	.|D	.|0.000000	D|D	0.98896|0.98896	0.9626|0.9626	H|H	0.98577|0.98577	4.27|4.27	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.98858|0.98858	1.0761|1.0761	7|10	0.56958|0.87932	D|D	0.05|0	.|.	15.7298|15.7298	0.77792|0.77792	0.1366:0.8634:0.0:0.0|0.1366:0.8634:0.0:0.0	.|.	.|229;244;244	.|B4DT92;A8K661;Q07001	.|.;.;ACHD_HUMAN	L|C	207|229;244	ENSP00000437740:P207L|ENSP00000438380:R229C;ENSP00000258385:R244C	ENSP00000408819:P207L|ENSP00000258385:R244C	P|R	+|+	2|1	0|0	CHRND|CHRND	233103003|233103003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.975000|1.975000	0.40569|0.40569	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.612	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			130	522	0	0	0	1	0	130	522				
LCN9	392399	broad.mit.edu	37	9	138557746	138557746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557746C>T	ENST00000277526.3	+	6	515	c.515C>T	c.(514-516)cCt>cTt	p.P172L	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	172						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCGCCCAGGCCTCCCATGCGT	0.687																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(514-516)cCt>cTt		lipocalin 9							20.0	23.0	22.0					9																	138557746		1928	4125	6053	SO:0001583	missense	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138557746C>T	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.515C>T	9.37:g.138557746C>T	ENSP00000277526:p.Pro172Leu					LCN9_ENST00000430290.2_3'UTR	p.P172L	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	6	515	+		Myeloproliferative disorder(178;0.0821)	172					C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	37	c.515C>T	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721389	0.15372	.	.	ENSG00000148386	ENST00000277526	T	0.20200	2.09	2.68	-1.14	0.09741	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39800	-0.9596	9	0.06891	T	0.86	.	4.6366	0.12527	0.0:0.4144:0.4294:0.1562	.	172	Q8WX39	LCN9_HUMAN	L	172	ENSP00000277526:P172L	ENSP00000277526:P186L	P	+	2	0	LCN9	137697567	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.542000	0.06091	-0.431000	0.07307	-0.802000	0.03209	CCT		0.687	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		7	99	0	0	0	1	0	7	99				
TRIM17	51127	broad.mit.edu	37	1	228595985	228595985	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228595985G>A	ENST00000366697.2	-	6	2307	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S|TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	451	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGCTGCAGGGGGCCTGGGAAG	0.592																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(1351-1353)Ccc>Tcc		tripartite motif containing 17							68.0	75.0	73.0					1																	228595985		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228595985G>A	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1351C>T	1.37:g.228595985G>A	ENSP00000355658:p.Pro451Ser					TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S	p.P451S			Q9Y577	TRI17_HUMAN			6	2307	-		Prostate(94;0.0724)	451			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.1351C>T	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689834	0.48097	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.65549	-0.16;-0.16;-0.16	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43260	D	0.000592	T	0.73837	0.3638	M	0.67700	2.07	0.80722	D	1	D	0.52996	0.957	P	0.57324	0.818	T	0.76138	-0.3069	10	0.59425	D	0.04	.	16.4366	0.83877	0.0:0.0:1.0:0.0	.	451	Q9Y577	TRI17_HUMAN	S	451	ENSP00000355658:P451S;ENSP00000355659:P451S;ENSP00000295033:P451S	ENSP00000295033:P451S	P	-	1	0	TRIM17	226662608	0.182000	0.23173	0.992000	0.48379	0.495000	0.33615	2.066000	0.41452	2.642000	0.89623	0.655000	0.94253	CCC		0.592	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		146	387	0	0	0	1	0	146	387				
IFRD1	3475	broad.mit.edu	37	7	112095820	112095820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095820G>A	ENST00000403825.3	+	2	358	c.97G>A	c.(97-99)Ggc>Agc	p.G33S	IFRD1_ENST00000535603.1_5'UTR|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S|IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	33					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCTAATAGGTGGCCAGCATCG	0.338																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(97-99)Ggc>Agc		interferon-related developmental regulator 1							120.0	115.0	116.0					7																	112095820		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112095820G>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.97G>A	7.37:g.112095820G>A	ENSP00000384477:p.Gly33Ser					IFRD1_ENST00000535603.1_5'UTR|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S|IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S	p.G33S	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			2	358	+			33					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.97G>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015458	0.93404	.	.	ENSG00000006652	ENST00000005558;ENST00000445335;ENST00000403825;ENST00000429071	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	.	0.094278	0.64402	D	0.000001	T	0.27134	0.0665	N	0.08118	0	0.80722	D	1	P;B	0.48294	0.908;0.141	B;B	0.41374	0.355;0.057	T	0.08994	-1.0695	10	0.29301	T	0.29	-17.5418	18.7821	0.91937	0.0:0.0:1.0:0.0	.	33;33	C9JA65;O00458	.;IFRD1_HUMAN	S	33	ENSP00000005558:G33S;ENSP00000384477:G33S	ENSP00000005558:G33S	G	+	1	0	IFRD1	111883056	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.316000	0.79007	2.506000	0.84524	0.460000	0.39030	GGC		0.338	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		68	357	0	0	0	1	0	68	357				
GRPR	2925	broad.mit.edu	37	X	16168591	16168591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16168591T>G	ENST00000380289.2	+	2	975	c.577T>G	c.(577-579)Ttc>Gtc	p.F193V	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	193					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CAACCAGACCTTCATTAGCTG	0.498																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(577-579)Ttc>Gtc		gastrin-releasing peptide receptor							228.0	170.0	190.0					X																	16168591		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168591T>G		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.577T>G	X.37:g.16168591T>G	ENSP00000369643:p.Phe193Val						p.F193V	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			2	975	+	Hepatocellular(33;0.183)		193					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.577T>G	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822558	0.90873	.	.	ENSG00000126010	ENST00000380289	T	0.70516	-0.49	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.38649	1.16	0.58432	D	0.999999	P	0.51240	0.943	P	0.54026	0.74	T	0.69258	-0.5192	10	0.30854	T	0.27	-31.2772	13.8099	0.63256	0.0:0.0:0.0:1.0	.	193	P30550	GRPR_HUMAN	V	193	ENSP00000369643:F193V	ENSP00000369643:F193V	F	+	1	0	GRPR	16078512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.857000	0.53885	0.486000	0.48141	TTC		0.498	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		154	471	0	0	0	1	0	154	471				
BEND2	139105	broad.mit.edu	37	X	18209204	18209204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18209204C>T	ENST00000380033.4	-	8	1337	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E	BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	402										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCATTGTCCCATAACTCAT	0.368																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1204-1206)gGg>gAg		BEN domain containing 2							200.0	168.0	179.0					X																	18209204		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18209204C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1205G>A	X.37:g.18209204C>T	ENSP00000369372:p.Gly402Glu					BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	p.G402E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			8	1337	-			402					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1205G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.187430	0.01620	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.18502	2.21;2.31	3.03	-0.898	0.10550	.	2.177200	0.01931	N	0.041245	T	0.08537	0.0212	N	0.16790	0.44	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.12837	0.008;0.0	T	0.17868	-1.0355	10	0.02654	T	1	-0.0082	3.3303	0.07082	0.2052:0.1411:0.0:0.6537	.	311;402	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	E	402;311	ENSP00000369372:G402E;ENSP00000369369:G311E	ENSP00000369369:G311E	G	-	2	0	BEND2	18119125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	-0.286000	0.09076	-1.169000	0.01745	GGG		0.368	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		53	219	0	0	0	1	0	53	219				
MCHR1	2847	broad.mit.edu	37	22	41076968	41076968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41076968C>T	ENST00000249016.4	+	2	1001	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.T102M	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	102					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCTCCTCGCACGGGGAGCATC	0.577																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(304-306)aCg>aTg		melanin-concentrating hormone receptor 1							126.0	97.0	107.0					22																	41076968		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41076968C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.305C>T	22.37:g.41076968C>T	ENSP00000249016:p.Thr102Met					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.T102M	p.T102M	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1001	+			102					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.305C>T	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	2.616	-0.289617	0.05568	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.37235	1.21;1.21	5.36	-0.573	0.11742	.	0.861856	0.10258	N	0.696279	T	0.20333	0.0489	N	0.19112	0.55	0.09310	N	1	B	0.33904	0.431	B	0.29785	0.107	T	0.14117	-1.0484	10	0.46703	T	0.11	.	7.7707	0.29006	0.0:0.4767:0.3778:0.1455	.	102	Q99705	MCHR1_HUMAN	M	102	ENSP00000249016:T102M;ENSP00000370841:T102M	ENSP00000249016:T102M	T	+	2	0	MCHR1	39406914	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.479000	0.06567	-0.150000	0.11195	-0.165000	0.13383	ACG		0.577	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		53	279	0	0	0	1	0	53	279				
SCN10A	6336	broad.mit.edu	37	3	38793718	38793718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38793718C>T	ENST00000449082.2	-	11	1746	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	583					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCGAGACATCGACAGCTCCA	0.552																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1747-1749)Gat>Aat		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						129.0	128.0	128.0					3																	38793718		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38793718C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1747G>A	3.37:g.38793718C>T	ENSP00000390600:p.Asp583Asn						p.D583N	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	11	1746	-			583					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1747G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546846	0.27652	.	.	ENSG00000185313	ENST00000449082	D	0.95588	-3.75	4.31	4.31	0.51392	.	6.498510	0.00447	N	0.000092	D	0.90707	0.7084	N	0.08118	0	0.20403	N	0.9999	B	0.15930	0.015	B	0.08055	0.003	T	0.76974	-0.2760	10	0.35671	T	0.21	.	12.5849	0.56412	0.0:1.0:0.0:0.0	.	583	Q9Y5Y9	SCNAA_HUMAN	N	583	ENSP00000390600:D583N	ENSP00000390600:D583N	D	-	1	0	SCN10A	38768722	0.452000	0.25713	0.624000	0.29186	0.300000	0.27592	3.018000	0.49625	2.689000	0.91719	0.462000	0.41574	GAT		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		62	349	0	0	0	1	0	62	349				
SF3B3	23450	broad.mit.edu	37	16	70589068	70589068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589068G>A	ENST00000302516.5	+	13	1880	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	557					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGTGATTGCCCTGACAGG	0.473																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1669-1671)Gcc>Acc		splicing factor 3b, subunit 3, 130kDa							287.0	271.0	277.0					16																	70589068		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589068G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1669G>A	16.37:g.70589068G>A	ENSP00000305790:p.Ala557Thr						p.A557T	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			13	1880	+		Ovarian(137;0.0694)	557					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.1669G>A	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890067	0.91889	.	.	ENSG00000189091	ENST00000302516	T	0.19105	2.17	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.79258	2.445	0.80722	D	1	P	0.45011	0.848	P	0.47941	0.562	T	0.23797	-1.0178	10	0.59425	D	0.04	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	557	Q15393	SF3B3_HUMAN	T	557	ENSP00000305790:A557T	ENSP00000305790:A557T	A	+	1	0	SF3B3	69146569	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.835000	0.99442	2.720000	0.93068	0.591000	0.81541	GCC		0.473	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		98	529	0	0	0	1	0	98	529				
ARHGEF19	128272	broad.mit.edu	37	1	16534248	16534248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16534248C>T	ENST00000270747.3	-	4	855	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	240					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTACACTTCGAGCCTCCAT	0.672																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(718-720)cGa>cAa		Rho guanine nucleotide exchange factor (GEF) 19							48.0	51.0	50.0					1																	16534248		2203	4298	6501	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534248C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.719G>A	1.37:g.16534248C>T	ENSP00000270747:p.Arg240Gln					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.R240Q	p.R240Q	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	4	855	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	240					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.719G>A	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028362	0.54790	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.71222	-0.55;1.85	4.84	2.95	0.34219	.	2.190520	0.02212	N	0.063299	T	0.61751	0.2372	L	0.47716	1.5	0.09310	N	1	P	0.38745	0.645	B	0.30251	0.113	T	0.48258	-0.9051	10	0.27082	T	0.32	.	7.6442	0.28311	0.0:0.7994:0.0:0.2006	.	240	Q8IW93	ARHGJ_HUMAN	Q	240	ENSP00000270747:R240Q;ENSP00000396001:R240Q	ENSP00000270747:R240Q	R	-	2	0	ARHGEF19	16406835	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	1.576000	0.36504	0.448000	0.26722	0.561000	0.74099	CGA		0.672	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		86	303	0	0	0	1	0	86	303				
DCAF15	90379	broad.mit.edu	37	19	14069989	14069989	+	Missense_Mutation	SNP	G	G	A	rs369708095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14069989G>A	ENST00000254337.6	+	7	938	c.917G>A	c.(916-918)cGt>cAt	p.R306H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	306					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCAGCCCGTTCTTCTGGG	0.701													G|||	4	0.000798722	0.0	0.0	5008	,	,		11150	0.0		0.0	False		,,,				2504	0.0041					ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(916-918)cGt>cAt		DDB1 and CUL4 associated factor 15							27.0	34.0	32.0					19																	14069989		2203	4299	6502	SO:0001583	missense	90379							g.chr19:14069989G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.917G>A	19.37:g.14069989G>A	ENSP00000254337:p.Arg306His						p.R306H	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			7	938	+			306					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.917G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	5.964	0.361856	0.11296	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.65	2.51	0.30379	.	1.602430	0.03963	U	0.290281	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999998	B	0.33964	0.434	B	0.29440	0.102	T	0.20075	-1.0286	9	0.30854	T	0.27	-3.0763	6.1558	0.20335	0.3277:0.0:0.6723:0.0	.	306	Q66K64	DCA15_HUMAN	H	306	.	ENSP00000254337:R306H	R	+	2	0	DCAF15	13930989	0.000000	0.05858	0.345000	0.25642	0.023000	0.10783	-0.092000	0.11129	0.380000	0.24823	0.561000	0.74099	CGT		0.701	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		83	416	0	0	0	1	0	83	416				
CALHM2	51063	broad.mit.edu	37	10	105207135	105207135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105207135C>T	ENST00000260743.5	-	4	1269	c.746G>A	c.(745-747)cGc>cAc	p.R249H	CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	249					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCCAAAGAAGCGGCGCACATT	0.612																																						ENST00000260743.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(745-747)cGc>cAc		calcium homeostasis modulator 2							84.0	75.0	78.0					10																	105207135		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105207135C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.746G>A	10.37:g.105207135C>T	ENSP00000260743:p.Arg249His					CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H	p.R249H	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN			4	1269	-			249					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.746G>A	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341551	0.61073	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17213	2.29;2.29	5.37	4.45	0.53987	.	0.340884	0.32002	N	0.006726	T	0.10723	0.0262	N	0.13098	0.295	0.80722	D	1	P	0.37441	0.595	B	0.40199	0.322	T	0.17077	-1.0381	10	0.41790	T	0.15	-18.0115	6.8321	0.23915	0.0:0.6943:0.0:0.3057	.	249	Q9HA72	CAHM2_HUMAN	H	249	ENSP00000358803:R249H;ENSP00000260743:R249H	ENSP00000260743:R249H	R	-	2	0	CALHM2	105197125	0.861000	0.29849	1.000000	0.80357	0.990000	0.78478	1.495000	0.35627	1.251000	0.43983	0.561000	0.74099	CGC		0.612	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		18	380	0	0	0	1	0	18	380				
DYM	54808	broad.mit.edu	37	18	46812850	46812850	+	Silent	SNP	C	C	T	rs142473333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46812850C>T	ENST00000269445.6	-	9	1357	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DYM_ENST00000442713.2_Silent_p.A110A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGGGGTTTGGCGCATCTGAGG	0.483																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(898-900)gcG>gcA		dymeclin							105.0	117.0	113.0					18																	46812850		2203	4300	6503	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46812850C>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.900G>A	18.37:g.46812850C>T						DYM_ENST00000442713.2_Silent_p.A110A	p.A300A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			9	1357	-			300					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.900G>A	CCDS11937.1																																																																																				0.483	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		129	525	0	0	0	1	0	129	525				
PDCL3	79031	broad.mit.edu	37	2	101186141	101186141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101186141C>T	ENST00000264254.6	+	4	704	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	109	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTTACCAAAGCTGGCGAGGGC	0.428																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(325-327)gCt>gTt		phosducin-like 3							102.0	99.0	100.0					2																	101186141		2203	4298	6501	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101186141C>T	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.326C>T	2.37:g.101186141C>T	ENSP00000264254:p.Ala109Val						p.A109V	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			4	704	+			109					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.326C>T	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	28.1	4.892454	0.91889	.	.	ENSG00000115539	ENST00000264254;ENST00000416255	T;T	0.42513	0.97;0.97	4.77	4.77	0.60923	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.87547	2.89	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.74639	-0.3598	10	0.72032	D	0.01	-21.0203	18.1468	0.89659	0.0:1.0:0.0:0.0	.	109	Q9H2J4	PDCL3_HUMAN	V	109;59	ENSP00000264254:A109V;ENSP00000413936:A59V	ENSP00000264254:A109V	A	+	2	0	PDCL3	100552573	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	7.469000	0.80959	2.347000	0.79759	0.555000	0.69702	GCT		0.428	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		42	509	0	0	0	1	0	42	509				
DHX16	8449	broad.mit.edu	37	6	30632720	30632720	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30632720A>C	ENST00000376442.3	-	7	1370	c.1175T>G	c.(1174-1176)aTc>aGc	p.I392S	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	392					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GACGGCCTGGATGGACTCTTT	0.567																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1174-1176)aTc>aGc		DEAH (Asp-Glu-Ala-His) box polypeptide 16							53.0	54.0	53.0					6																	30632720		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30632720A>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1175T>G	6.37:g.30632720A>C	ENSP00000365625:p.Ile392Ser						p.I392S	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			7	1370	-			392					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1175T>G	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130383	0.77549	.	.	ENSG00000204560	ENST00000376442	T	0.02656	4.21	5.18	3.97	0.46021	.	0.155354	0.56097	D	0.000025	T	0.11580	0.0282	M	0.93150	3.385	0.80722	D	1	D;D	0.63880	0.99;0.993	P;D	0.68621	0.902;0.959	T	0.00320	-1.1820	10	0.87932	D	0	.	9.3119	0.37910	0.8409:0.0:0.0:0.1591	.	332;392	B4DZ28;O60231	.;DHX16_HUMAN	S	392	ENSP00000365625:I392S	ENSP00000365625:I392S	I	-	2	0	DHX16	30740699	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.348000	0.59379	1.959000	0.56917	0.402000	0.26972	ATC		0.567	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		6	243	0	0	0	1	0	6	243				
TIE1	7075	broad.mit.edu	37	1	43779499	43779499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43779499C>A	ENST00000372476.3	+	14	2348	c.2269C>A	c.(2269-2271)Ctg>Atg	p.L757M	TIE1_ENST00000433781.2_Missense_Mutation_p.L402M|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	757					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAGGGCCTGGATCAGCA	0.642																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2269-2271)Ctg>Atg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							43.0	44.0	43.0					1																	43779499		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779499C>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2269C>A	1.37:g.43779499C>A	ENSP00000361554:p.Leu757Met					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L402M	p.L757M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2348	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	757					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2269C>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942425	0.34283	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.77489	-1.05;-1.1	5.63	5.63	0.86233	.	0.000000	0.31809	N	0.007030	T	0.63920	0.2552	L	0.29908	0.895	0.29938	N	0.821281	B;B;B;B	0.27351	0.114;0.07;0.07;0.176	B;B;B;B	0.18561	0.022;0.01;0.01;0.017	T	0.60581	-0.7235	10	0.34782	T	0.22	.	9.8246	0.40903	0.1543:0.6966:0.149:0.0	.	402;712;402;757	E9PG63;B4DTW8;B4DKW0;P35590	.;.;.;TIE1_HUMAN	M	757;160;40;402	ENSP00000361554:L757M;ENSP00000411728:L402M	ENSP00000361553:L160M	L	+	1	2	TIE1	43552086	0.948000	0.32251	1.000000	0.80357	0.955000	0.61496	1.931000	0.40134	2.651000	0.90000	0.655000	0.94253	CTG		0.642	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		21	150	1	0	1.28384e-07	1	1.33406e-07	21	150				
VEPH1	79674	broad.mit.edu	37	3	157188105	157188105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157188105G>A	ENST00000362010.2	-	3	659	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	118						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGACATACCTGTAAAATGCAA	0.458																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(352-354)Cag>Tag		ventricular zone expressed PH domain-containing 1							74.0	70.0	71.0					3																	157188105		2203	4300	6503	SO:0001587	stop_gained	79674					plasma membrane		g.chr3:157188105G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.352C>T	3.37:g.157188105G>A	ENSP00000354919:p.Gln118*					VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*	p.Q118*	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	659	-			118					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Nonsense_Mutation	SNP	ENST00000362010.2	37	c.352C>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267774	0.97426	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1046	19.1841	0.93635	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;6;118;118;118;118	.	ENSP00000354919:Q118X	Q	-	1	0	VEPH1	158670799	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.338000	0.96553	2.537000	0.85549	0.655000	0.94253	CAG		0.458	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		29	187	0	0	0	1	0	29	187				
SLC17A4	10050	broad.mit.edu	37	6	25769379	25769379	+	Silent	SNP	G	G	A	rs376073753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25769379G>A	ENST00000377905.4	+	3	377	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SLC17A4_ENST00000439485.2_Silent_p.Q86Q|SLC17A4_ENST00000397076.2_Silent_p.Q32Q	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	86					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGACTCCCAGGGCTACTGGA	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		18938	0.0		0.0	False		,,,				2504	0.002					ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(256-258)caG>caA		solute carrier family 17, member 4		G		0,4406		0,0,2203	71.0	76.0	74.0		258	1.6	0.1	6		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC17A4	NM_005495.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		86/498	25769379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25769379G>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.258G>A	6.37:g.25769379G>A						SLC17A4_ENST00000397076.2_Silent_p.Q32Q|SLC17A4_ENST00000439485.2_Silent_p.Q86Q	p.Q86Q	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			3	377	+			86					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	c.258G>A	CCDS4564.1																																																																																				0.428	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			59	268	0	0	0	1	0	59	268				
SUN2	25777	broad.mit.edu	37	22	39141735	39141735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141735C>T	ENST00000405510.1	-	9	1125	c.767G>A	c.(766-768)aGg>aAg	p.R256K	RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.R277K|SUN2_ENST00000406622.1_Missense_Mutation_p.R256K|SUN2_ENST00000411587.2_Missense_Mutation_p.R245K|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	256					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTCATCCGGCCTCCTGCTGTC	0.567																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(766-768)aGg>aAg		Sad1 and UNC84 domain containing 2							69.0	64.0	66.0					22																	39141735		2203	4300	6503	SO:0001583	missense	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39141735C>T	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.767G>A	22.37:g.39141735C>T	ENSP00000385740:p.Arg256Lys					RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R245K|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K|SUN2_ENST00000406622.1_Missense_Mutation_p.R256K|SUN2_ENST00000405018.1_Missense_Mutation_p.R277K	p.R256K	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			9	1125	-			256					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.767G>A	CCDS13978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.702|0.702	-0.790583|-0.790583	0.02884|0.02884	.|.	.|.	ENSG00000100242|ENSG00000100242	ENST00000430185|ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058	.|T;T;T;T;T;T	.|0.30448	.|2.76;2.76;2.78;2.76;2.76;1.53	5.35|5.35	-7.91|-7.91	0.01165|0.01165	.|.	.|1.479880	.|0.04075	.|N	.|0.308683	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.001;0.0	T|T	0.29822|0.29822	-0.9999|-0.9999	5|10	.|0.13470	.|T	.|0.59	-2.6364|-2.6364	10.0122|10.0122	0.41992|0.41992	0.0:0.2353:0.1106:0.6541|0.0:0.2353:0.1106:0.6541	.|.	.|245;291;256;277;256	.|B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.|.;.;.;.;SUN2_HUMAN	S|K	113|256;256;277;256;245;210	.|ENSP00000385740:R256K;ENSP00000216064:R256K;ENSP00000385616:R277K;ENSP00000383992:R256K;ENSP00000395601:R245K;ENSP00000406941:R210K	.|ENSP00000216064:R256K	G|R	-|-	1|2	0|0	SUN2|SUN2	37471681|37471681	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.548000|-0.548000	0.06048|0.06048	-1.264000|-1.264000	0.02452|0.02452	-0.878000|-0.878000	0.02970|0.02970	GGC|AGG		0.567	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		6	203	0	0	0	1	0	6	203				
GPR153	387509	broad.mit.edu	37	1	6313786	6313786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6313786G>A	ENST00000377893.2	-	3	1037	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACCAGCACAGGGAAGCCCATG	0.632																																						ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(778-780)Cct>Tct		G protein-coupled receptor 153							90.0	94.0	93.0					1																	6313786		2203	4300	6503	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6313786G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.778C>T	1.37:g.6313786G>A	ENSP00000367125:p.Pro260Ser						p.P260S	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	1037	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	260					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.778C>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549552	0.86127	.	.	ENSG00000158292	ENST00000377893	T	0.35973	1.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54282	-0.8317	10	0.87932	D	0	-38.9726	17.1055	0.86662	0.0:0.0:1.0:0.0	.	260	Q6NV75	GP153_HUMAN	S	260	ENSP00000367125:P260S	ENSP00000367125:P260S	P	-	1	0	GPR153	6236373	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.790000	0.99075	2.384000	0.81235	0.462000	0.41574	CCT		0.632	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			65	300	0	0	0	1	0	65	300				
NEB	4703	broad.mit.edu	37	2	152346952	152346952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152346952G>A	ENST00000172853.10	-	147	19810	c.19663C>T	c.(19663-19665)Cat>Tat	p.H6555Y	NEB_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000397345.3_Missense_Mutation_p.H8411Y|NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y|NEB_ENST00000427231.2_Missense_Mutation_p.H8411Y			P20929	NEBU_HUMAN	nebulin	6555	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTTCTGAATGCTCAGACTTC	0.577																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(25231-25233)Cat>Tat		nebulin							70.0	73.0	72.0					2																	152346952		2043	4202	6245	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152346952G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19663C>T	2.37:g.152346952G>A	ENSP00000172853:p.His6555Tyr					NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y|NEB_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000172853.10_Missense_Mutation_p.H6555Y|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000427231.2_Missense_Mutation_p.H8411Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y	p.H8411Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	180	25433	-			6555					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.25231C>T		.	.	.	.	.	.	.	.	.	.	G	5.724	0.318107	0.10845	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	T;T;T;T;T;T;T	0.06768	3.4;3.45;3.45;3.26;3.4;4.01;4.19	5.4	5.4	0.78164	.	0.299172	0.36338	N	0.002656	T	0.10078	0.0247	L	0.34521	1.04	0.32086	N	0.592536	P;P;P;D;B;B	0.56521	0.608;0.586;0.459;0.976;0.09;0.002	B;B;B;P;B;B	0.45232	0.099;0.332;0.162;0.474;0.023;0.015	T	0.09618	-1.0666	10	0.20519	T	0.43	.	18.7735	0.91901	0.0:0.0:1.0:0.0	.	324;386;324;6555;2893;8411	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.;.;.;NEBU_HUMAN;.;.	Y	6555;8411;8411;2511;2893;6555;386;324	ENSP00000386259:H6555Y;ENSP00000380505:H8411Y;ENSP00000416578:H8411Y;ENSP00000410961:H2893Y;ENSP00000172853:H6555Y;ENSP00000380497:H386Y;ENSP00000427083:H324Y	ENSP00000172853:H6555Y	H	-	1	0	NEB	152055198	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.396000	0.52565	2.526000	0.85167	0.462000	0.41574	CAT		0.577	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	63	0	0	0	1	0	17	63				
ZSCAN12	9753	broad.mit.edu	37	6	28366051	28366051	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366051G>T	ENST00000361028.1	-	2	277	c.132C>A	c.(130-132)gtC>gtA	p.V44V	ZSCAN12_ENST00000396827.3_Silent_p.V44V			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	44					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						ACTGACGGAAGACCTCTCTGC	0.507																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(130-132)gtC>gtA		zinc finger and SCAN domain containing 12							282.0	242.0	254.0					6																	28366051		692	1591	2283	SO:0001819	synonymous_variant	9753							g.chr6:28366051G>T	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.132C>A	6.37:g.28366051G>T						ZSCAN12_ENST00000396827.3_Silent_p.V44V	p.V44V							2	277	-								O43724	Silent	SNP	ENST00000361028.1	37	c.132C>A																																																																																					0.507	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		22	89	1	0	7.45023e-12	1	7.97024e-12	22	89				
ZCCHC11	23318	broad.mit.edu	37	1	52896778	52896778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52896778G>A	ENST00000371544.3	-	28	4877	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1539	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATTGCCACAGGTCTGGCAGCA	0.557																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4615-4617)Cct>Tct		zinc finger, CCHC domain containing 11							116.0	104.0	108.0					1																	52896778		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52896778G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4615C>T	1.37:g.52896778G>A	ENSP00000360599:p.Pro1539Ser					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	p.P1539S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			28	4877	-			1539			Pro-rich.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.4615C>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618452|3.618452	0.66787|0.66787	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544|ENST00000528457	T;T|.	0.49432|.	0.78;0.79|.	5.38|5.38	4.47|4.47	0.54385|0.54385	.|.	0.376195|.	0.27513|.	N|.	0.019037|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|.	0.36027|.	0.533|.	B|.	0.30943|.	0.122|.	T|T	0.17776|0.17776	-1.0358|-1.0358	10|5	0.19147|.	T|.	0.46|.	.|.	10.2182|10.2182	0.43182|0.43182	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	1539|.	Q5TAX3|.	TUT4_HUMAN|.	S|I	1540;1539|41	ENSP00000257177:P1540S;ENSP00000360599:P1539S|.	ENSP00000257177:P1540S|.	P|T	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52669366|52669366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.062000|5.062000	0.64326|0.64326	1.275000|1.275000	0.44379|0.44379	0.563000|0.563000	0.77884|0.77884	CCT|ACC		0.557	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		63	254	0	0	0	1	0	63	254				
ZWINT	11130	broad.mit.edu	37	10	58118426	58118426	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118426G>T	ENST00000373944.3	-	7	721	c.683C>A	c.(682-684)gCt>gAt	p.A228D	ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	228					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCAGCCTCAGCCTCAGGGAA	0.537																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(682-684)gCt>gAt		ZW10 interacting kinetochore protein							55.0	53.0	54.0					10																	58118426		2203	4300	6503	SO:0001583	missense	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118426G>T	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.683C>A	10.37:g.58118426G>T	ENSP00000363055:p.Ala228Asp					ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D	p.A228D			O95229	ZWINT_HUMAN			7	721	-			228					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.683C>A	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978392	0.53720	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	3.73	2.78	0.32641	.	0.750699	0.11474	N	0.560436	T	0.53883	0.1824	L	0.60455	1.87	0.09310	N	1	P;P	0.51351	0.944;0.944	P;P	0.47470	0.548;0.548	T	0.45352	-0.9267	10	0.72032	D	0.01	-11.8392	8.9761	0.35937	0.0:0.2273:0.7727:0.0	.	181;228	A6NNV6;O95229	.;ZWINT_HUMAN	D	228;228;108;181	ENSP00000363055:A228D;ENSP00000378801:A228D;ENSP00000322850:A108D;ENSP00000354921:A181D	ENSP00000322850:A108D	A	-	2	0	ZWINT	57788432	0.023000	0.18921	0.029000	0.17559	0.013000	0.08279	2.383000	0.44354	1.085000	0.41206	0.563000	0.77884	GCT		0.537	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			67	268	1	0	1.41401e-22	1	1.60156e-22	67	268				
SLC25A25	114789	broad.mit.edu	37	9	130865959	130865959	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130865959G>A	ENST00000373064.5	+	5	749		c.e5-1		SLC25A25_ENST00000373069.5_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373066.5_Splice_Site	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25						adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTTCCTCACAGATCTTTGATG	0.607																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.e6-1		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							87.0	83.0	84.0					9																	130865959		2203	4300	6503	SO:0001630	splice_region_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130865959G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.487-1G>A	9.37:g.130865959G>A						SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373064.5_Splice_Site|SLC25A25_ENST00000373069.5_Splice_Site		NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			6	989	+								Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Splice_Site	SNP	ENST00000373064.5	37		CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418790	0.83559	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A25	129905780	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	.		0.607	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901	Intron	55	280	0	0	0	1	0	55	280				
ADAMTS12	81792	broad.mit.edu	37	5	33614342	33614342	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33614342C>T	ENST00000504830.1	-	16	2863		c.e16+1		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGTTTCTCACCTGTCCCGCA	0.507										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.e16+1		ADAM metallopeptidase with thrombospondin type 1 motif, 12							134.0	94.0	107.0					5																	33614342		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33614342C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2527+1G>A	5.37:g.33614342C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_Splice_Site|ADAMTS12_ENST00000352040.3_Splice_Site		NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			16	2863	-								A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	37		CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414237	0.83449	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5024	0.95100	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33650099	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.790000	0.85794	2.699000	0.92147	0.561000	0.74099	.		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Intron	18	107	0	0	0	1	0	18	107				
CNNM3	26505	broad.mit.edu	37	2	97493533	97493533	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97493533A>G	ENST00000305510.3	+	4	1613	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G	CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	529					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GAAGCATCCCAGTGTCAACCA	0.552																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1585-1587)Agt>Ggt		cyclin M3							116.0	105.0	109.0					2																	97493533		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97493533A>G	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1585A>G	2.37:g.97493533A>G	ENSP00000305449:p.Ser529Gly					CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G|ANKRD23_ENST00000476975.1_Intron	p.S529G	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			4	1613	+			529					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1585A>G	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717725	0.48622	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90844	-2.47;-2.74	5.93	5.93	0.95920	.	0.049764	0.85682	D	0.000000	D	0.82912	0.5140	N	0.25890	0.77	0.80722	D	1	B;B	0.22346	0.068;0.005	B;B	0.22386	0.039;0.01	T	0.77117	-0.2706	10	0.19590	T	0.45	-3.8148	9.8058	0.40792	0.9227:0.0:0.0773:0.0	.	481;529	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	G	481;481;529	ENSP00000366260:S481G;ENSP00000305449:S529G	ENSP00000305449:S529G	S	+	1	0	CNNM3	96857260	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.403000	0.66338	2.271000	0.75665	0.533000	0.62120	AGT		0.552	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		55	364	0	0	0	1	0	55	364				
SPC25	57405	broad.mit.edu	37	2	169730185	169730185	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169730185A>C	ENST00000282074.2	-	6	601	c.460T>G	c.(460-462)Ttg>Gtg	p.L154V		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	154	Interaction with the C-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ATAAACTGCAATTTCTCACCT	0.353																																						ENST00000282074.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(460-462)Ttg>Gtg		SPC25, NDC80 kinetochore complex component							89.0	98.0	95.0					2																	169730185		2203	4298	6501	SO:0001583	missense	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr2:169730185A>C	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.460T>G	2.37:g.169730185A>C	ENSP00000282074:p.Leu154Val						p.L154V	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN			6	601	-			154			Interaction with the C-terminus of SPBC24.		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	c.460T>G	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699704	0.68501	.	.	ENSG00000152253	ENST00000282074	.	.	.	5.85	0.289	0.15723	.	0.000000	0.64402	D	0.000001	T	0.67107	0.2858	M	0.62154	1.92	0.51767	D	0.99993	D	0.76494	0.999	D	0.77004	0.989	T	0.63980	-0.6514	9	0.49607	T	0.09	-11.3603	8.7529	0.34629	0.5829:0.0:0.4171:0.0	.	154	Q9HBM1	SPC25_HUMAN	V	154	.	ENSP00000282074:L154V	L	-	1	2	SPC25	169438431	0.869000	0.29996	0.997000	0.53966	0.981000	0.71138	0.940000	0.28992	0.124000	0.18369	0.402000	0.26972	TTG		0.353	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		102	313	0	0	0	1	0	102	313				
HR	55806	broad.mit.edu	37	8	21986527	21986527	+	Missense_Mutation	SNP	C	C	T	rs372594532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986527C>T	ENST00000381418.4	-	2	1637	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	HR_ENST00000312841.8_Missense_Mutation_p.V53I|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	53					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGCTCAGGACGCCCCTCCAA	0.677																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(157-159)Gtc>Atc		hair growth associated		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	40.0	43.0	42.0		157,157	-1.8	0.4	8		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HR	NM_018411.4,NM_005144.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	53/1135,53/1190	21986527	1,13005	2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986527C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.157G>A	8.37:g.21986527C>T	ENSP00000370826:p.Val53Ile					HR_ENST00000312841.8_Missense_Mutation_p.V53I	p.V53I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	1637	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	53					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.157G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	2.361	-0.346539	0.05208	0.0	1.16E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71934	-0.61;-0.61	4.8	-1.78	0.07957	.	1.199030	0.06230	N	0.688518	T	0.52869	0.1761	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.25606	-1.0127	10	0.26408	T	0.33	-1.6763	5.5637	0.17158	0.1308:0.4348:0.0:0.4344	.	53;53;53	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	I	53	ENSP00000370826:V53I;ENSP00000326765:V53I	ENSP00000326765:V53I	V	-	1	0	HR	22042472	0.001000	0.12720	0.378000	0.26068	0.138000	0.21146	-0.610000	0.05629	-0.500000	0.06614	-2.069000	0.00389	GTC		0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			63	286	0	0	0	1	0	63	286				
POLA1	5422	broad.mit.edu	37	X	24732735	24732735	+	Silent	SNP	G	G	A	rs187670867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24732735G>A	ENST00000379059.3	+	5	408	c.393G>A	c.(391-393)ccG>ccA	p.P131P	POLA1_ENST00000379068.3_Silent_p.P137P	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	131					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGACAAAACCGAACAACATTA	0.353													G|||	3	0.000794702	0.0015	0.0	3775	,	,		13832	0.0		0.0	False		,,,				2504	0.001					ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(409-411)ccG>ccA		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)	G		2,3832		0,1,1,1631,569	102.0	92.0	95.0		393	-3.2	0.9	X		95	0,6726		0,0,0,2428,1870	no	coding-synonymous	POLA1	NM_016937.3		0,1,1,4059,2439	AA,AG,A,GG,G		0.0,0.0522,0.0189		131/1463	24732735	2,10558	2202	4298	6500	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24732735G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.393G>A	X.37:g.24732735G>A						POLA1_ENST00000379059.3_Silent_p.P131P	p.P137P			P09884	DPOLA_HUMAN			5	454	+			131					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.411G>A	CCDS14214.1																																																																																				0.353	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		19	44	0	0	0	1	0	19	44				
ZNF543	125919	broad.mit.edu	37	19	57840074	57840074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840074G>A	ENST00000321545.4	+	4	1589	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGCATCAACGGATTCACACT	0.493																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1243-1245)cGg>cAg		zinc finger protein 543							99.0	75.0	83.0					19																	57840074		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840074G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1244G>A	19.37:g.57840074G>A	ENSP00000322545:p.Arg415Gln						p.R415Q	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1589	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	415					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1244G>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274758	0.40194	.	.	ENSG00000178229	ENST00000321545	T	0.24723	1.84	2.89	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34861	0.0912	L	0.38692	1.165	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.09530	-1.0670	9	0.87932	D	0	.	5.2016	0.15267	0.1188:0.0:0.6736:0.2076	.	415	Q08ER8	ZN543_HUMAN	Q	415	ENSP00000322545:R415Q	ENSP00000322545:R415Q	R	+	2	0	ZNF543	62531886	0.000000	0.05858	0.172000	0.22920	0.509000	0.34042	-0.031000	0.12287	0.510000	0.28216	-0.310000	0.09108	CGG		0.493	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		46	243	0	0	0	1	0	46	243				
PFAS	5198	broad.mit.edu	37	17	8171913	8171913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8171913C>T	ENST00000314666.6	+	27	3578	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1149	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTTCCGGAAGCGGCCAGACAC	0.627																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3445-3447)Cgg>Tgg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						35.0	37.0	36.0					17																	8171913		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8171913C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3445C>T	17.37:g.8171913C>T	ENSP00000313490:p.Arg1149Trp					PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	p.R1149W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			27	3578	+			1149			Glutamine amidotransferase type-1.		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3445C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881660	0.72294	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.38401	1.14;1.87	5.11	5.11	0.69529	Glutamine amidotransferase type 1 (1);	0.000000	0.64402	D	0.000001	T	0.73094	0.3543	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82178	-0.0586	10	0.87932	D	0	-24.7076	11.4877	0.50363	0.1795:0.8205:0.0:0.0	.	1149;1149	A8K8N7;O15067	.;PUR4_HUMAN	W	725;1149;558	ENSP00000441706:R725W;ENSP00000313490:R1149W	ENSP00000313490:R1149W	R	+	1	2	PFAS	8112638	0.997000	0.39634	1.000000	0.80357	0.791000	0.44710	3.607000	0.54102	2.537000	0.85549	0.563000	0.77884	CGG		0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			11	225	0	0	0	1	0	11	225				
MTSS1	9788	broad.mit.edu	37	8	125575120	125575120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125575120C>A	ENST00000518547.1	-	10	1411	c.938G>T	c.(937-939)aGg>aTg	p.R313M	MTSS1_ENST00000431961.2_Missense_Mutation_p.R113M|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	313	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTGGACAGCCTCACAGGAGC	0.622																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(937-939)aGg>aTg		metastasis suppressor 1							57.0	49.0	52.0					8																	125575120		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125575120C>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.938G>T	8.37:g.125575120C>A	ENSP00000429064:p.Arg313Met					MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Missense_Mutation_p.R113M|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M|MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M	p.R313M	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		10	1411	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		313			Ser-rich.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.938G>T	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.426790|4.426790	0.83667|0.83667	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000519168;ENST00000523179|ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	.|T;T;T;T;T;T;T;T	.|0.62788	.|1.15;1.01;1.1;0.0;1.03;1.1;0.84;0.33	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81074|0.81074	0.4747|0.4747	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|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	.|0.91635	.|0.997;0.997;0.999;0.997;0.999;0.997	T|T	0.82096|0.82096	-0.0626|-0.0626	5|10	.|0.72032	.|D	.|0.01	-22.8088|-22.8088	19.9823|19.9823	0.97331|0.97331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203;47;313;313;313;113	.|E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.|.;.;.;MTSS1_HUMAN;.;.	D|M	60;160|313;313;113;47;317;113;203;113	.|ENSP00000367256:R313M;ENSP00000429064:R313M;ENSP00000346119:R113M;ENSP00000378884:R47M;ENSP00000322804:R317M;ENSP00000393606:R113M;ENSP00000428319:R203M;ENSP00000428145:R113M	.|ENSP00000322804:R317M	E|R	-|-	3|2	2|0	MTSS1|MTSS1	125644301|125644301	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.528000|0.528000	0.34623|0.34623	7.818000|7.818000	0.86416|0.86416	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAG|AGG		0.622	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		9	194	1	0	5.4927e-09	1	5.7613e-09	9	194				
TIGIT	201633	broad.mit.edu	37	3	114018494	114018494	+	Missense_Mutation	SNP	G	G	A	rs369133784		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114018494G>A	ENST00000486257.1	+	4	699	c.442G>A	c.(442-444)Gcg>Acg	p.A148T	TIGIT_ENST00000481065.1_Missense_Mutation_p.A215T|TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	148					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGCCATGGCCGCGACGCTGGT	0.582																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(643-645)Gcg>Acg		T cell immunoreceptor with Ig and ITIM domains		G	THR/ALA	0,4406		0,0,2203	91.0	76.0	81.0		442	-8.2	0.0	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIGIT	NM_173799.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	148/245	114018494	1,13005	2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114018494G>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.442G>A	3.37:g.114018494G>A	ENSP00000419085:p.Ala148Thr					TIGIT_ENST00000486257.1_Missense_Mutation_p.A148T|TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T	p.A215T			Q495A1	TIGIT_HUMAN			4	3258	+			148					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.643G>A	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.340308	0.01277	0.0	1.16E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.56611	0.51;0.45;0.49;0.49;0.51	4.09	-8.19	0.01049	.	1.743640	0.02883	N	0.133134	T	0.29190	0.0726	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.29882	-0.9997	10	0.07813	T	0.8	4.6473	8.6741	0.34167	0.1485:0.0:0.5321:0.3194	.	148	Q495A1	TIGIT_HUMAN	T	127;215;148;148;127	ENSP00000418917:A127T;ENSP00000420552:A215T;ENSP00000419085:A148T;ENSP00000373167:A148T;ENSP00000419706:A127T	ENSP00000373167:A148T	A	+	1	0	TIGIT	115501184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.907000	0.00700	-2.557000	0.00476	-1.140000	0.01884	GCG		0.582	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		39	214	0	0	0	1	0	39	214				
FAM129B	64855	broad.mit.edu	37	9	130270429	130270429	+	Silent	SNP	C	C	T	rs570624473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270429C>T	ENST00000373312.3	-	12	1698	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.A482A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	495					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCTGCAGCAGCGCCTCCCGGA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17995	0.0		0.0	False		,,,				2504	0.001					ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1483-1485)gcG>gcA		family with sequence similarity 129, member B							61.0	65.0	64.0					9																	130270429		2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130270429C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1485G>A	9.37:g.130270429C>T						FAM129B_ENST00000373314.3_Silent_p.A482A|FAM129B_ENST00000468379.1_Intron	p.A495A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			12	1698	-			495					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1485G>A	CCDS35145.1																																																																																				0.617	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		60	372	0	0	0	1	0	60	372				
ZAP70	7535	broad.mit.edu	37	2	98350016	98350016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98350016C>T	ENST00000264972.5	+	8	1062	c.847C>T	c.(847-849)Cga>Tga	p.R283*	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	283	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCTCAGAGACGAATCGACAC	0.612																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(847-849)Cga>Tga		zeta-chain (TCR) associated protein kinase 70kDa							68.0	58.0	61.0					2																	98350016		2203	4300	6503	SO:0001587	stop_gained	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98350016C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.847C>T	2.37:g.98350016C>T	ENSP00000264972:p.Arg283*					ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*|ZAP70_ENST00000463643.1_3'UTR	p.R283*	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			8	1062	+			283			Interdomain B.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Nonsense_Mutation	SNP	ENST00000264972.5	37	c.847C>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677893	0.68042	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	.	.	.	4.43	2.47	0.30058	.	0.517370	0.15567	N	0.255631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2272	0.15401	0.2:0.6941:0.0:0.1058	.	.	.	.	X	283;157	.	ENSP00000264972:R283X	R	+	1	2	ZAP70	97716448	0.836000	0.29430	0.973000	0.42090	0.794000	0.44872	0.509000	0.22707	1.202000	0.43218	0.563000	0.77884	CGA		0.612	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			39	456	0	0	0	1	0	39	456				
FKBP10	60681	broad.mit.edu	37	17	39977920	39977920	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39977920G>T	ENST00000321562.4	+	9	1518	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	472	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGGAGTCCCAGGCAGTGCTGT	0.657																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1414-1416)Ggc>Tgc		FK506 binding protein 10, 65 kDa							113.0	104.0	107.0					17																	39977920		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39977920G>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1414G>T	17.37:g.39977920G>T	ENSP00000317232:p.Gly472Cys					FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	p.G472C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	9	1518	+		Breast(137;0.00122)	472			PPIase FKBP-type 4.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.1414G>T	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.485740|3.485740	0.63962|0.63962	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340|ENST00000455106	T;T|.	0.56444|.	0.46;0.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);|.	0.153182|.	0.42053|.	D|.	0.000771|.	D|D	0.84973|0.84973	0.5591|0.5591	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.83275|.	0.996;0.967|.	D|D	0.88415|0.88415	0.3024|0.3024	10|5	0.52906|.	T|.	0.07|.	-18.8789|-18.8789	14.788|14.788	0.69819|0.69819	0.0:0.144:0.856:0.0|0.0:0.144:0.856:0.0	.|.	245;472|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	C|H	360;472;472;245|275	ENSP00000317232:G472C;ENSP00000442009:G245C|.	ENSP00000269598:G360C|.	G|Q	+|+	1|3	0|2	FKBP10|FKBP10	37231446|37231446	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.680000|0.680000	0.39746|0.39746	3.264000|3.264000	0.51553|0.51553	2.550000|2.550000	0.86006|0.86006	0.455000|0.455000	0.32223|0.32223	GGC|CAG		0.657	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		63	336	1	0	4.46356e-37	1	5.35602e-37	63	336				
AQP10	89872	broad.mit.edu	37	1	154300337	154300337	+	IGR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154300337G>T	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000368487.3_Intron|ATP8B2_ENST00000341822.2_5'Flank|ATP8B2_ENST00000368489.3_Splice_Site_p.R21M	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCCCTACAGGCATGGGCTT	0.552																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.e1+1		ATPase, aminophospholipid transporter, class I, type 8B, member 2							184.0	173.0	177.0					1																	154300337		2203	4300	6503	SO:0001628	intergenic_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154300337G>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300337G>T						ATP8B2_ENST00000368487.3_Intron	p.R21_splice	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	62	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		0					Q5VYD3|Q5VYD4|Q8NG70	Splice_Site	SNP	ENST00000324978.3	37	c.62_splice	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337067	0.24253	.	.	ENSG00000143515	ENST00000368489	T	0.09817	2.94	3.21	-0.00885	0.14003	.	10.638800	0.00166	U	0.000010	T	0.01905	0.0060	.	.	.	0.09310	N	0.999999	P	0.43352	0.804	B	0.32289	0.143	T	0.30621	-0.9972	9	0.51188	T	0.08	.	3.0897	0.06290	0.2991:0.2288:0.4721:0.0	.	21	P98198-3	.	M	21	ENSP00000357475:R21M	ENSP00000357475:R21M	R	+	2	0	ATP8B2	152566961	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.579000	0.23788	0.006000	0.14734	0.455000	0.32223	AGG		0.552	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		27	650	1	0	4.74835e-14	1	5.14536e-14	27	650				
TGM7	116179	broad.mit.edu	37	15	43574251	43574251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43574251G>A	ENST00000452443.2	-	9	1146	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	381					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCCTGATGGCCTTCACAGA	0.607																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1141-1143)gCc>gTc		transglutaminase 7	L-Glutamine(DB00130)						47.0	39.0	42.0					15																	43574251		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43574251G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1142C>T	15.37:g.43574251G>A	ENSP00000389466:p.Ala381Val						p.A381V	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	9	1146	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	381						Missense_Mutation	SNP	ENST00000452443.2	37	c.1142C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258926	0.95368	.	.	ENSG00000159495	ENST00000452443	T	0.61859	0.07	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.94306	3.52	0.54753	D	0.999986	D	0.89917	1.0	D	0.71184	0.972	D	0.87394	0.2365	10	0.87932	D	0	-15.8349	16.4717	0.84113	0.0:0.0:1.0:0.0	.	381	Q96PF1	TGM7_HUMAN	V	381	ENSP00000389466:A381V	ENSP00000389466:A381V	A	-	2	0	TGM7	41361543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.487000	0.83934	0.655000	0.94253	GCC		0.607	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		13	126	0	0	0	1	0	13	126				
AARS2	57505	broad.mit.edu	37	6	44272508	44272508	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44272508G>A	ENST00000244571.4	-	12	1628	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCTGTCCCGTCCTCTGTAT	0.617											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(1624-1626)gaC>gaT		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						46.0	47.0	47.0					6																	44272508		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272508G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1626C>T	6.37:g.44272508G>A			OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	TMEM151B_ENST00000438774.2_Intron	p.D542D	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	1628	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		542						Silent	SNP	ENST00000244571.4	37	c.1626C>T	CCDS34464.1																																																																																				0.617	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		46	217	0	0	0	1	0	46	217				
FFAR3	2865	broad.mit.edu	37	19	35850667	35850667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35850667G>A	ENST00000327809.4	+	2	1076	c.875G>A	c.(874-876)aGg>aAg	p.R292K	FFAR3_ENST00000594310.1_Missense_Mutation_p.R292K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	292					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GAGCTGCTGAGGAGGTTGTGT	0.592																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(874-876)aGg>aAg		free fatty acid receptor 3							37.0	29.0	32.0					19																	35850667		2200	4274	6474	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850667G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.875G>A	19.37:g.35850667G>A	ENSP00000328230:p.Arg292Lys					FFAR3_ENST00000594310.1_Missense_Mutation_p.R292K	p.R292K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	1076	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		292					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.875G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611728	0.14066	.	.	ENSG00000185897	ENST00000327809	T	0.37235	1.21	4.65	0.542	0.17174	.	2.645630	0.02352	U	0.075988	T	0.21841	0.0526	N	0.24115	0.695	0.09310	N	1	B	0.19935	0.04	B	0.13407	0.009	T	0.17048	-1.0382	10	0.02654	T	1	-0.3835	6.7057	0.23250	0.106:0.429:0.465:0.0	.	292	O14843	FFAR3_HUMAN	K	292	ENSP00000328230:R292K	ENSP00000328230:R292K	R	+	2	0	FFAR3	40542507	0.023000	0.18921	0.087000	0.20705	0.020000	0.10135	0.467000	0.22035	0.474000	0.27392	-0.391000	0.06502	AGG		0.592	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		50	200	0	0	0	1	0	50	200				
CCDC150	284992	broad.mit.edu	37	2	197596779	197596779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197596779C>A	ENST00000389175.4	+	27	3227	c.3092C>A	c.(3091-3093)gCt>gAt	p.A1031D	CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D|CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1031										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAAGAAGCTCATCGCTGG	0.393																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(3091-3093)gCt>gAt		coiled-coil domain containing 150							85.0	83.0	84.0					2																	197596779		1836	4087	5923	SO:0001583	missense	284992							g.chr2:197596779C>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.3092C>A	2.37:g.197596779C>A	ENSP00000373827:p.Ala1031Asp					CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D|CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D	p.A1031D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			27	3227	+			1031					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.3092C>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769785	0.31320	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.57907	0.37	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000020	T	0.67011	0.2848	L	0.50333	1.59	0.80722	D	1	D;P	0.89917	1.0;0.865	D;B	0.87578	0.998;0.301	T	0.65928	-0.6049	10	0.48119	T	0.1	-6.3465	15.6931	0.77469	0.0:1.0:0.0:0.0	.	678;1031	B4DZ03;Q8NCX0	.;CC150_HUMAN	D	678;1031;518	ENSP00000373827:A1031D	ENSP00000272831:A678D	A	+	2	0	CCDC150	197305024	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	2.822000	0.48073	2.679000	0.91253	0.650000	0.86243	GCT		0.393	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		70	205	1	0	3.73176e-21	1	4.1971e-21	70	205				
DLGAP2	9228	broad.mit.edu	37	8	1580998	1580998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1580998C>T	ENST00000421627.2	+	5	1490	c.1356C>T	c.(1354-1356)agC>agT	p.S452S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	531					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCAGGTGAGCGAGGCGGAGA	0.587																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1354-1356)agC>agT		discs, large (Drosophila) homolog-associated protein 2							103.0	107.0	105.0					8																	1580998		2181	4269	6450	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1580998C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1356C>T	8.37:g.1580998C>T							p.S452S	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	5	1490	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	531					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.1356C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	2.019	-0.425295	0.04701	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.62011	0.2393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73392	-0.3997	4	.	.	.	-10.2684	17.3139	0.87217	0.0:0.0974:0.0:0.9026	.	.	.	.	V	469	.	.	A	+	2	0	DLGAP2	1568405	0.999000	0.42202	0.250000	0.24296	0.151000	0.21798	0.431000	0.21444	-2.268000	0.00685	-1.022000	0.02435	GCG		0.587	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		10	86	0	0	0	1	0	10	86				
TTN	7273	broad.mit.edu	37	2	179474468	179474468	+	Missense_Mutation	SNP	C	C	T	rs369150143		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474468C>T	ENST00000591111.1	-	222	46983	c.46759G>A	c.(46759-46761)Gcg>Acg	p.A15587T	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A17228T|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15587	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTAATACCCGCGGCGTTCTCT	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19185	0.0		0.0	False		,,,				2504	0.0					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.(51682-51684)Gcg>Acg		titin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3743		0,1,1871	228.0	219.0	222.0		24487,43978,24862,25063	5.8	1.0	2		222	0,8206		0,0,4103	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	58,58,58,58	0,1,5974	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8163/26927,14660/33424,8288/27052,8355/27119	179474468	1,11949	1872	4103	5975	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474468C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46759G>A	2.37:g.179474468C>T	ENSP00000465570:p.Ala15587Thr					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A15587T	p.A17228T	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)		272	51906	-			15587			Fibronectin type-III 24.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.51682G>A		.	.	.	.	.	.	.	.	.	.	C	18.09	3.545804	0.65198	2.67E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76285	0.3966	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78091	-0.2339	9	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	8163;8288;8355;15587	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14660;8163;8355;8288;8163	ENSP00000343764:A14660T;ENSP00000434586:A8163T;ENSP00000340554:A8355T;ENSP00000352154:A8288T	ENSP00000340554:A8355T	A	-	1	0	TTN	179182713	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GCG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		312	944	0	0	0	1	0	312	944				
HERC5	51191	broad.mit.edu	37	4	89425454	89425454	+	Missense_Mutation	SNP	G	G	A	rs375430185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89425454G>A	ENST00000264350.3	+	21	2807	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q	HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	885	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAGAATTTCGGAGAGGATTT	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17001	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(2653-2655)cGg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase 5		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	82.0	81.0		2654	3.5	1.0	4		81	0,8598		0,0,4299	no	missense	HERC5	NM_016323.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	885/1025	89425454	1,13003	2203	4299	6502	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89425454G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2654G>A	4.37:g.89425454G>A	ENSP00000264350:p.Arg885Gln					HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	p.R885Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	21	2807	+		Hepatocellular(203;0.114)	885			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.2654G>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217624	0.06101	2.27E-4	0.0	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.49139	0.79;0.79	4.62	3.45	0.39498	HECT (4);	0.316302	0.21246	N	0.077721	T	0.17831	0.0428	N	0.03071	-0.42	0.22581	N	0.998963	B	0.13594	0.008	B	0.14023	0.01	T	0.29822	-0.9999	10	0.02654	T	1	.	7.6934	0.28581	0.896:0.0:0.104:0.0	.	885	Q9UII4	HERC5_HUMAN	Q	885;523	ENSP00000264350:R885Q;ENSP00000424129:R523Q	ENSP00000264350:R885Q	R	+	2	0	HERC5	89644477	0.988000	0.35896	1.000000	0.80357	0.745000	0.42441	4.021000	0.57196	0.819000	0.34492	-0.302000	0.09304	CGG		0.323	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		89	402	0	0	0	1	0	89	402				
MCCC2	64087	broad.mit.edu	37	5	70939654	70939654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70939654C>T	ENST00000340941.6	+	12	1210	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	361	Acyl-CoA binding. {ECO:0000255}.|Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGGATTTGCTCGAATATTTGG	0.338																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(1081-1083)Cga>Tga		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						150.0	161.0	157.0					5																	70939654		2203	4300	6503	SO:0001587	stop_gained	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70939654C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1081C>T	5.37:g.70939654C>T	ENSP00000343657:p.Arg361*					MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	p.R361*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	12	1210	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	361			Acyl-CoA binding (Potential).|Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Nonsense_Mutation	SNP	ENST00000340941.6	37	c.1081C>T	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	36	5.686458	0.96784	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	.	.	.	5.65	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4798	11.3076	0.49345	0.5398:0.4602:0.0:0.0	.	.	.	.	X	361;323;133	.	ENSP00000327308:R323X	R	+	1	2	MCCC2	70975410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.808000	0.47963	1.163000	0.42636	0.650000	0.86243	CGA		0.338	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			112	522	0	0	0	1	0	112	522				
KRTAP10-12	386685	broad.mit.edu	37	21	46117425	46117425	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117425C>A	ENST00000400365.3	+	1	339	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	103	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A103A(1)		large_intestine(1)|lung(8)	9						GCCAGCAGGCCTGCTGCGTGC	0.647																																						ENST00000400365.3																			1	Substitution - coding silent(1)	p.A103A(1)	lung(1)	large_intestine(1)|lung(8)	9						c.(307-309)gcC>gcA		keratin associated protein 10-12							76.0	81.0	79.0					21																	46117425		2203	4297	6500	SO:0001819	synonymous_variant	386685					keratin filament		g.chr21:46117425C>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.309C>A	21.37:g.46117425C>A						TSPEAR_ENST00000323084.4_Intron	p.A103A	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN			1	339	+			103			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Silent	SNP	ENST00000400365.3	37	c.309C>A	CCDS42967.1																																																																																				0.647	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		115	829	1	0	8.74965e-44	1	1.06917e-43	115	829				
SLC7A9	11136	broad.mit.edu	37	19	33355586	33355586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355586C>T	ENST00000023064.4	-	3	375	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	62					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CAGGGCCCCACAGCTTCCGTG	0.617																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	GRCh37	CM050099	SLC7A9	M		c.(184-186)Gtg>Atg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						125.0	117.0	120.0					19																	33355586		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355586C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.184G>A	19.37:g.33355586C>T	ENSP00000023064:p.Val62Met					SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M	p.V62M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			3	375	-	Esophageal squamous(110;0.137)		62					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.184G>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196535	0.79015	.	.	ENSG00000021488	ENST00000023064	D	0.90504	-2.68	5.13	5.13	0.70059	Amino acid permease domain (1);	0.055402	0.64402	D	0.000001	D	0.96024	0.8705	H	0.94264	3.515	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.96517	0.9383	10	0.72032	D	0.01	.	12.3425	0.55101	0.0:0.922:0.0:0.078	.	62	P82251	BAT1_HUMAN	M	62	ENSP00000023064:V62M	ENSP00000023064:V62M	V	-	1	0	SLC7A9	38047426	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.091000	0.71406	2.565000	0.86533	0.462000	0.41574	GTG		0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			144	645	0	0	0	1	0	144	645				
OR4X1	390113	broad.mit.edu	37	11	48286112	48286112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48286112G>A	ENST00000320048.1	+	1	700	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCAGCACAAGGCCCTCTCCAC	0.542																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(700-702)Gcc>Acc		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							130.0	116.0	121.0					11																	48286112		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286112G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.700G>A	11.37:g.48286112G>A	ENSP00000321506:p.Ala234Thr						p.A234T	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	700	+			234					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.700G>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392031	0.42410	.	.	ENSG00000176567	ENST00000320048	T	0.00357	7.89	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.73753	2.245	0.24716	N	0.993173	D	0.89917	1.0	D	0.97110	1.0	T	0.47935	-0.9078	9	0.72032	D	0.01	.	10.774	0.46340	0.0941:0.0:0.9059:0.0	.	234	Q8NH49	OR4X1_HUMAN	T	234	ENSP00000321506:A234T	ENSP00000321506:A234T	A	+	1	0	OR4X1	48242688	1.000000	0.71417	0.362000	0.25862	0.001000	0.01503	3.712000	0.54875	1.240000	0.43803	-0.244000	0.11960	GCC		0.542	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		87	405	0	0	0	1	0	87	405				
TNK2	10188	broad.mit.edu	37	3	195593856	195593856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593856G>T	ENST00000333602.6	-	14	3631	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1005				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTCCCCTCTGGGCCGCAGACC	0.677																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(3013-3015)cCc>cAc		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						30.0	34.0	33.0					3																	195593856		2200	4300	6500	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195593856G>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3014C>A	3.37:g.195593856G>T	ENSP00000329425:p.Pro1005His					TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H|TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H	p.P1005H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	14	3631	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1005	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.3014C>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181629	0.57800	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.74947	-0.82;-0.89;2.94;-0.87;-0.82	5.85	5.85	0.93711	.	0.114465	0.64402	D	0.000013	T	0.81541	0.4844	L	0.36672	1.1	0.80722	D	1	P;D;D;D	0.89917	0.947;0.999;0.976;1.0	P;P;P;D	0.70487	0.628;0.855;0.628;0.969	T	0.82436	-0.0458	10	0.72032	D	0.01	.	18.7512	0.91816	0.0:0.0:1.0:0.0	.	1005;1053;1007;532	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	H	1005;1053;574;1007;1005	ENSP00000329425:P1005H;ENSP00000371341:P1053H;ENSP00000398614:P574H;ENSP00000392546:P1007H;ENSP00000376201:P1005H	ENSP00000329425:P1005H	P	-	2	0	TNK2	197078253	1.000000	0.71417	0.987000	0.45799	0.639000	0.38242	4.289000	0.59013	2.768000	0.95171	0.655000	0.94253	CCC		0.677	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		8	202	1	0	1.76689e-08	1	1.84553e-08	8	202				
MYH3	4621	broad.mit.edu	37	17	10547728	10547728	+	Silent	SNP	C	C	T	rs141874357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10547728C>T	ENST00000583535.1	-	14	1437	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MYH3_ENST00000226209.7_Silent_p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	450	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGGAAGCTTCGTATCCAGTT	0.383																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1348-1350)acG>acA		myosin, heavy chain 3, skeletal muscle, embryonic		G		4,4402	9.9+/-24.2	0,4,2199	138.0	134.0	135.0		1350	-9.0	0.2	17	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	MYH3	NM_002470.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		450/1941	10547728	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10547728C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1350G>A	17.37:g.10547728C>T						MYH3_ENST00000226209.7_Silent_p.T450T	p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			14	1437	-			450			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.1350G>A	CCDS11157.1																																																																																				0.383	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		19	512	0	0	0	1	0	19	512				
COPG1	22820	broad.mit.edu	37	3	128991698	128991698	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128991698A>C	ENST00000314797.6	+	21	2311	c.2207A>C	c.(2206-2208)gAt>gCt	p.D736A		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	736	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										AAGGACTGTGATCCCACCACT	0.532																																						ENST00000314797.6																			0											c.(2206-2208)gAt>gCt		coatomer protein complex, subunit gamma 1							199.0	166.0	177.0					3																	128991698		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128991698A>C	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.2207A>C	3.37:g.128991698A>C	ENSP00000325002:p.Asp736Ala						p.D736A	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			21	2311	+			736			Interaction with ZNF289/ARFGAP2.		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.2207A>C	CCDS33851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.1|26.1	4.709643|4.709643	0.89018|0.89018	.|.	.|.	ENSG00000181789|ENSG00000181789	ENST00000314797|ENST00000509889	T|.	0.41758|.	0.99|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Coatomer, gamma subunit , appendage (1);Coatomer, gamma subunit, appendage, Ig-like subdomain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84133|0.84133	0.5405|0.5405	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	D|.	0.66716|.	0.946|.	D|D	0.87590|0.87590	0.2490|0.2490	10|5	0.87932|.	D|.	0|.	-6.2992|-6.2992	14.3007|14.3007	0.66346|0.66346	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	736|.	Q9Y678|.	COPG_HUMAN|.	A|L	736|50	ENSP00000325002:D736A|.	ENSP00000325002:D736A|.	D|I	+|+	2|1	0|0	COPG|COPG	130474388|130474388	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.897000|0.897000	0.52465|0.52465	9.136000|9.136000	0.94489|0.94489	2.259000|2.259000	0.74868|0.74868	0.528000|0.528000	0.53228|0.53228	GAT|ATC		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		26	147	0	0	0	1	0	26	147				
CAMTA2	23125	broad.mit.edu	37	17	4877048	4877048	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4877048G>T	ENST00000348066.3	-	13	2156	c.2033C>A	c.(2032-2034)cCt>cAt	p.P678H	CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.P677H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	678					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCGAACCCAGGCCCCTGGCC	0.597																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2029-2031)cCt>cAt		calmodulin binding transcription activator 2							72.0	65.0	67.0					17																	4877048		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4877048G>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2033C>A	17.37:g.4877048G>T	ENSP00000321813:p.Pro678His					CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H|CAMTA2_ENST00000348066.3_Missense_Mutation_p.P678H|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H	p.P677H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			12	2441	-			678					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.2030C>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564895	0.65651	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.32515	2.67;1.69;1.45;1.69;1.46	4.85	4.85	0.62838	.	0.073877	0.56097	D	0.000029	T	0.30634	0.0771	N	0.12182	0.205	0.41702	D	0.989407	B;B;D;D;D	0.61697	0.016;0.029;0.99;0.983;0.986	B;B;P;P;P	0.57620	0.011;0.017;0.824;0.671;0.76	T	0.09357	-1.0678	10	0.44086	T	0.13	-14.7948	13.3308	0.60485	0.0:0.0:1.0:0.0	.	654;701;680;678;677	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	H	701;680;677;678;678	ENSP00000412886:P701H;ENSP00000370712:P680H;ENSP00000354828:P677H;ENSP00000350910:P678H;ENSP00000321813:P678H	ENSP00000321813:P678H	P	-	2	0	CAMTA2	4817772	0.998000	0.40836	0.440000	0.26846	0.951000	0.60555	1.941000	0.40233	2.528000	0.85240	0.655000	0.94253	CCT		0.597	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		62	230	1	0	1.22587e-43	1	1.49745e-43	62	230				
GALNT15	117248	broad.mit.edu	37	3	16254093	16254093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16254093C>T	ENST00000339732.5	+	6	1718	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G	GALNT15_ENST00000437509.1_Silent_p.G405G	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	405	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCTGTGGTGGCTCTGTTGAAA	0.547																																						ENST00000339732.5																			0											c.(1213-1215)ggC>ggT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							74.0	60.0	65.0					3																	16254093		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16254093C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1215C>T	3.37:g.16254093C>T						GALNT15_ENST00000437509.1_Silent_p.G405G	p.G405G	NM_054110.4	NP_473451.3					6	1718	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1215C>T	CCDS33711.1																																																																																				0.547	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		10	257	0	0	0	1	0	10	257				
TTN	7273	broad.mit.edu	37	2	179407472	179407472	+	Missense_Mutation	SNP	G	G	T	rs146098114		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179407472G>T	ENST00000591111.1	-	298	92410	c.92186C>A	c.(92185-92187)aCt>aAt	p.T30729N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T32370N|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30729	Ig-like 138.				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)			ATCTCTGATAGTGGTTTCACG	0.393																																						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.(97108-97110)aCt>aAt		titin							236.0	224.0	228.0					2																	179407472		1887	4125	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407472G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92186C>A	2.37:g.179407472G>T	ENSP00000465570:p.Thr30729Asn					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T30729N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.T32370N	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)		348	97333	-			30729			Protein kinase.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.97109C>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.40	3.819888	0.71028	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75591	0.3870	L	0.31120	0.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.77822	-0.2445	9	0.87932	D	0	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	23305;23430;23497;30729	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	29802;23305;23497;23430;23302	ENSP00000343764:T29802N;ENSP00000434586:T23305N;ENSP00000340554:T23497N;ENSP00000352154:T23430N	ENSP00000340554:T23497N	T	-	2	0	TTN	179115718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.903000	0.87398	2.677000	0.91161	0.655000	0.94253	ACT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		155	755	1	0	4.13621e-57	1	5.17916e-57	155	755				
ZNF91	7644	broad.mit.edu	37	19	23544948	23544948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23544948G>T	ENST00000300619.7	-	4	1038	c.833C>A	c.(832-834)tCc>tAc	p.S278Y	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	278					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGGGTTGAGGACCATAGAAA	0.383																																						ENST00000300619.7																			0											c.(832-834)tCc>tAc		zinc finger protein 91							107.0	116.0	113.0					19																	23544948		2193	4296	6489	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544948G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.833C>A	19.37:g.23544948G>T	ENSP00000300619:p.Ser278Tyr					ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y|ZNF91_ENST00000599743.1_Intron	p.S278Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1038	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	278					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.833C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.904201	0.00512	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07908	3.15;3.15	1.62	-3.24	0.05094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	M	0.67569	2.06	0.09310	N	1	B;B	0.28998	0.193;0.23	B;B	0.16722	0.009;0.016	T	0.51826	-0.8656	9	0.02654	T	1	.	0.4085	0.00437	0.1996:0.2495:0.2755:0.2754	.	246;278	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	278;246	ENSP00000300619:S278Y;ENSP00000380272:S246Y	ENSP00000300619:S278Y	S	-	2	0	ZNF91	23336788	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.340000	0.02650	-2.012000	0.00950	-1.252000	0.01501	TCC		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		87	455	1	0	1.55521e-42	1	1.89442e-42	87	455				
PPP1R15A	23645	broad.mit.edu	37	19	49378030	49378030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49378030C>T	ENST00000200453.5	+	2	1809	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	514	Interaction with KMT2A/MLL1.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.P514S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CATCTATGTACCTGGAGAGAA	0.622																																						ENST00000200453.5																			1	Substitution - Missense(1)	p.P514S(1)	skin(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1540-1542)Cct>Tct		protein phosphatase 1, regulatory subunit 15A							51.0	49.0	50.0					19																	49378030		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49378030C>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1540C>T	19.37:g.49378030C>T	ENSP00000200453:p.Pro514Ser						p.P514S	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1809	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	514			Interaction with MLL.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1540C>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321945	0.81580	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15256	2.44	4.43	4.43	0.53597	.	0.092903	0.35349	N	0.003273	T	0.33381	0.0861	L	0.54323	1.7	0.39850	D	0.973228	D	0.89917	1.0	D	0.85130	0.997	T	0.03403	-1.1040	10	0.20519	T	0.43	-15.4289	13.3017	0.60328	0.0:1.0:0.0:0.0	.	514	O75807	PR15A_HUMAN	S	514;354;472	ENSP00000200453:P514S	ENSP00000200453:P514S	P	+	1	0	PPP1R15A	54069842	0.978000	0.34361	0.957000	0.39632	0.936000	0.57629	2.332000	0.43903	2.414000	0.81942	0.650000	0.86243	CCT		0.622	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		79	321	0	0	0	1	0	79	321				
CAPN1	823	broad.mit.edu	37	11	64972252	64972252	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64972252G>A	ENST00000527323.1	+	10	1504	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	422	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CTTCGTGCTCGCCCTTATGCA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1264-1266)Gcc>Acc		calpain 1, (mu/I) large subunit							45.0	54.0	51.0					11																	64972252		2072	4203	6275	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64972252G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1264G>A	11.37:g.64972252G>A	ENSP00000431984:p.Ala422Thr		OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080	CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T	p.A422T			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	10	1504	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	422			Domain III.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1264G>A	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805608	0.96967	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	4.51	4.51	0.55191	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.056434	0.64402	D	0.000002	D	0.92928	0.7750	M	0.69463	2.115	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.93795	0.7096	10	0.87932	D	0	.	15.0833	0.72130	0.0:0.0:1.0:0.0	.	422	P07384	CAN1_HUMAN	T	422;422;422;422;368;422	ENSP00000435272:A422T;ENSP00000431686:A422T;ENSP00000434176:A422T;ENSP00000279247:A422T;ENSP00000431984:A422T	ENSP00000259755:A368T	A	+	1	0	CAPN1	64728828	1.000000	0.71417	0.888000	0.34837	0.970000	0.65996	9.716000	0.98752	2.232000	0.73038	0.563000	0.77884	GCC		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			78	283	0	0	0	1	0	78	283				
TMEM200C	645369	broad.mit.edu	37	18	5891977	5891977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5891977C>T	ENST00000581347.2	-	3	731	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	29						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGCTTTCCGCTTGCGCTT	0.612																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(85-87)cGg>cAg		transmembrane protein 200C							82.0	89.0	87.0					18																	5891977		2129	4247	6376	SO:0001583	missense	645369					integral to membrane		g.chr18:5891977C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.86G>A	18.37:g.5891977C>T	ENSP00000463375:p.Arg29Gln					TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q|RP11-945C19.4_ENST00000577694.1_RNA	p.R29Q			A6NKL6	T200C_HUMAN			3	731	-			29						Missense_Mutation	SNP	ENST00000581347.2	37	c.86G>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845131	0.91197	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.59436	1.845	0.44417	D	0.997337	D	0.89917	1.0	D	0.77557	0.99	T	0.79172	-0.1913	9	0.66056	D	0.02	-11.4275	18.2993	0.90158	0.0:1.0:0.0:0.0	.	29	A6NKL6	T200C_HUMAN	Q	29	.	ENSP00000372982:R29Q	R	-	2	0	TMEM200C	5881977	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.841000	0.62824	2.376000	0.81061	0.557000	0.71058	CGG		0.612	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		46	146	0	0	0	1	0	46	146				
MKI67	4288	broad.mit.edu	37	10	129904345	129904345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129904345A>G	ENST00000368654.3	-	13	6134	c.5759T>C	c.(5758-5760)tTt>tCt	p.F1920S	MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1920	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTCCCCACAAATGTGTTGAT	0.468																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5758-5760)tTt>tCt		marker of proliferation Ki-67							217.0	214.0	215.0					10																	129904345		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904345A>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5759T>C	10.37:g.129904345A>G	ENSP00000357643:p.Phe1920Ser					MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	p.F1920S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6134	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1920			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5759T>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891066	0.33348	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.66	-3.11	0.05299	.	0.693193	0.11826	N	0.525701	T	0.04815	0.0130	L	0.40543	1.245	0.09310	N	1	B;P;D	0.89917	0.22;0.811;1.0	B;P;D	0.77557	0.042;0.455;0.99	T	0.08932	-1.0698	10	0.06625	T	0.88	.	11.106	0.48203	0.4366:0.0:0.5634:0.0	.	1919;1560;1920	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1920;1560;1919	ENSP00000357643:F1920S;ENSP00000357642:F1560S	ENSP00000357642:F1560S	F	-	2	0	MKI67	129794335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	-0.812000	0.04363	-0.250000	0.11733	TTT		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		223	1155	0	0	0	1	0	223	1155				
SMYD1	150572	broad.mit.edu	37	2	88383924	88383924	+	Missense_Mutation	SNP	G	G	A	rs556249832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88383924G>A	ENST00000419482.2	+	2	312	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SMYD1_ENST00000444564.2_Missense_Mutation_p.R76H|SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR|MIR4780_ENST00000584268.1_RNA	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	76	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TACTGCGACCGCACCTGCCAG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19449	0.0		0.0	False		,,,				2504	0.0					ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(226-228)cGc>cAc		SET and MYND domain containing 1							111.0	93.0	99.0					2																	88383924		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88383924G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.227G>A	2.37:g.88383924G>A	ENSP00000393453:p.Arg76His					SMYD1_ENST00000444564.2_Missense_Mutation_p.R76H|SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR	p.R76H	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			2	312	+			76					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.227G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173281	0.94807	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.15718	2.4;2.4;2.4	5.63	5.63	0.86233	SET domain (2);Zinc finger, MYND-type (3);	0.057799	0.64402	D	0.000002	T	0.46268	0.1384	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65773	0.938;0.91	T	0.45145	-0.9281	10	0.56958	D	0.05	-22.6217	18.6665	0.91492	0.0:0.0:1.0:0.0	.	76;76	Q8NB12;C9JUP3	SMYD1_HUMAN;.	H	76	ENSP00000393453:R76H;ENSP00000407888:R76H;ENSP00000387482:R76H	ENSP00000393453:R76H	R	+	2	0	SMYD1	88165039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.655000	0.90218	0.555000	0.69702	CGC		0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		98	369	0	0	0	1	0	98	369				
PCDHGB1	56104	broad.mit.edu	37	5	140730352	140730352	+	Missense_Mutation	SNP	C	C	A	rs201293239	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140730352C>A	ENST00000523390.1	+	1	525	c.525C>A	c.(523-525)ttC>ttA	p.F175L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAATACTTCTCTCTGTCAA	0.443																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(523-525)ttC>ttA									196.0	191.0	193.0					5																	140730352		1880	4114	5994	SO:0001583	missense	0							g.chr5:140730352C>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.525C>A	5.37:g.140730352C>A	ENSP00000429273:p.Phe175Leu					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.F175L	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	525	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.525C>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	18.17	3.564044	0.65651	.	.	ENSG00000254221	ENST00000523390	T	0.70749	-0.51	5.36	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88559	0.6469	H	0.97214	3.96	0.28420	N	0.917755	D;D	0.89917	1.0;0.984	D;D	0.80764	0.994;0.923	T	0.82263	-0.0544	9	0.87932	D	0	.	10.6944	0.45890	0.0:0.8366:0.0:0.1634	.	175;175	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	L	175	ENSP00000429273:F175L	ENSP00000429273:F175L	F	+	3	2	PCDHGB1	140710536	0.000000	0.05858	0.989000	0.46669	0.934000	0.57294	-0.549000	0.06041	1.324000	0.45282	0.563000	0.77884	TTC		0.443	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		104	1048	1	0	9.01214e-43	1	1.09842e-42	104	1048				
SBK1	388228	broad.mit.edu	37	16	28331401	28331401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28331401G>A	ENST00000341901.4	+	4	1223	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						CCGCAGGTGGGGCTCCCTGAG	0.711																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(433-435)gGg>gAg		SH3 domain binding kinase 1							5.0	7.0	7.0					16																	28331401		2107	4150	6257	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331401G>A		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.434G>A	16.37:g.28331401G>A	ENSP00000343248:p.Gly145Glu						p.G145E	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			4	1223	+			145			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.434G>A	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577179	0.86645	.	.	ENSG00000188322	ENST00000341901	T	0.22336	1.96	4.17	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45264	-0.9273	10	0.40728	T	0.16	-27.0193	13.9542	0.64137	0.0:0.0:1.0:0.0	.	145	Q52WX2	SBK1_HUMAN	E	145	ENSP00000343248:G145E	ENSP00000343248:G145E	G	+	2	0	SBK1	28238902	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.561000	0.98142	1.846000	0.53633	0.561000	0.74099	GGG		0.711	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		15	45	0	0	0	1	0	15	45				
IQGAP2	10788	broad.mit.edu	37	5	75979000	75979000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75979000C>T	ENST00000274364.6	+	29	4018	c.3721C>T	c.(3721-3723)Ctg>Ttg	p.L1241L	IQGAP2_ENST00000379730.3_Silent_p.L743L|IQGAP2_ENST00000396234.3_Silent_p.L737L|IQGAP2_ENST00000502745.1_Silent_p.L737L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1241					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGTGAATTGCTGGGGTCGCT	0.433																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3721-3723)Ctg>Ttg		IQ motif containing GTPase activating protein 2							113.0	119.0	117.0					5																	75979000		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75979000C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3721C>T	5.37:g.75979000C>T						IQGAP2_ENST00000502745.1_Silent_p.L737L|IQGAP2_ENST00000396234.3_Silent_p.L737L|IQGAP2_ENST00000379730.3_Silent_p.L743L	p.L1241L	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	29	4018	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1241					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.3721C>T	CCDS34188.1																																																																																				0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		78	382	0	0	0	1	0	78	382				
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416977C>A	ENST00000340010.5	-	15	1781	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378																																						ENST00000340010.5																			1	Substitution - Missense(1)	p.E533K(1)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1597-1599)Gaa>Taa		solute carrier family 26 (anion exchanger), member 3							115.0	108.0	111.0					7																	107416977		2203	4300	6503	SO:0001587	stop_gained	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107416977C>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1597G>T	7.37:g.107416977C>A	ENSP00000345873:p.Glu533*					SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	p.E533*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			15	1781	-			533			STAS.			Nonsense_Mutation	SNP	ENST00000340010.5	37	c.1597G>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477904	0.96291	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	5.82	4.93	0.64822	.	0.397106	0.29948	N	0.010784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.2746	0.60180	0.0:0.8209:0.1142:0.0649	.	.	.	.	X	498;533	.	ENSP00000345873:E533X	E	-	1	0	SLC26A3	107204213	0.993000	0.37304	0.710000	0.30468	0.048000	0.14542	2.976000	0.49289	0.827000	0.34685	-1.094000	0.02160	GAA		0.378	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		46	212	1	0	3.76525e-18	1	4.17087e-18	46	212				
TET1	80312	broad.mit.edu	37	10	70333489	70333489	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70333489C>A	ENST00000373644.4	+	2	1603	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	465					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTCCAGGGTGCTATACAGATT	0.438																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(1393-1395)gCt>gAt		tet methylcytosine dioxygenase 1							65.0	58.0	60.0					10																	70333489		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70333489C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1394C>A	10.37:g.70333489C>A	ENSP00000362748:p.Ala465Asp						p.A465D	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	1603	+			465					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.1394C>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001149	0.54254	.	.	ENSG00000138336	ENST00000373644	T	0.09723	2.95	5.19	5.19	0.71726	.	0.477138	0.17509	N	0.171717	T	0.08626	0.0214	L	0.27053	0.805	0.34570	D	0.713337	B	0.32031	0.352	B	0.27170	0.077	T	0.14090	-1.0485	10	0.87932	D	0	.	11.5003	0.50433	0.1919:0.8081:0.0:0.0	.	465	Q8NFU7	TET1_HUMAN	D	465	ENSP00000362748:A465D	ENSP00000362748:A465D	A	+	2	0	TET1	70003495	0.946000	0.32159	0.926000	0.36857	0.973000	0.67179	1.306000	0.33505	2.421000	0.82119	0.305000	0.20034	GCT		0.438	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		79	250	1	0	1.25742e-37	1	1.51121e-37	79	250				
DDX28	55794	broad.mit.edu	37	16	68055940	68055940	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68055940T>C	ENST00000332395.5	-	1	1830	c.1166A>G	c.(1165-1167)gAc>gGc	p.D389G	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	389	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTCTGCTCTGTCACGATGCTT	0.493																																						ENST00000332395.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(1165-1167)gAc>gGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							112.0	95.0	101.0					16																	68055940		2198	4300	6498	SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68055940T>C	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1166A>G	16.37:g.68055940T>C	ENSP00000332340:p.Asp389Gly						p.D389G	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	1830	-		Ovarian(137;0.0563)	389			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000332395.5	37	c.1166A>G	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	T	1.152	-0.646409	0.03531	.	.	ENSG00000182810	ENST00000332395	T	0.71103	-0.54	5.28	1.61	0.23674	Helicase, C-terminal (1);	0.597438	0.18393	N	0.142606	T	0.44307	0.1287	N	0.11341	0.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.33141	T	0.24	-10.4312	4.0144	0.09637	0.0:0.1847:0.1799:0.6354	.	389	Q9NUL7	DDX28_HUMAN	G	389	ENSP00000332340:D389G	ENSP00000332340:D389G	D	-	2	0	DDX28	66613441	0.000000	0.05858	0.054000	0.19295	0.004000	0.04260	0.787000	0.26858	0.535000	0.28714	-0.256000	0.11100	GAC		0.493	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		75	332	0	0	0	1	0	75	332				
AGAP4	119016	broad.mit.edu	37	10	46322028	46322028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46322028C>T	ENST00000448048.2	-	7	1452	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	443	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(1)|lung(1)|ovary(1)	3						GACTGCAGGGCCATGGCCTTG	0.577																																						ENST00000448048.2																			0				central_nervous_system(1)|lung(1)|ovary(1)	3						c.(1327-1329)Gcc>Acc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4							19.0	18.0	18.0					10																	46322028		1954	3781	5735	SO:0001583	missense	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46322028C>T	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1327G>A	10.37:g.46322028C>T	ENSP00000392513:p.Ala443Thr						p.A443T	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			7	1452	-			443			Arf-GAP.			Missense_Mutation	SNP	ENST00000448048.2	37	c.1327G>A	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575236	0.45902	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.44482	0.92	.	.	.	.	0.125014	0.52532	D	0.000062	T	0.54319	0.1851	M	0.69463	2.115	0.41499	D	0.988276	D;P;D	0.76494	0.999;0.588;0.999	D;P;D	0.91635	0.998;0.573;0.999	T	0.50320	-0.8842	9	0.51188	T	0.08	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	466;511;443	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	T	443;219	ENSP00000392513:A443T	ENSP00000343438:A219T	A	-	1	0	AGAP4	45642034	1.000000	0.71417	0.031000	0.17742	0.032000	0.12392	5.212000	0.65225	0.107000	0.17824	0.109000	0.15622	GCC		0.577	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		98	770	0	0	0	1	0	98	770				
POTEE	445582	broad.mit.edu	37	2	131976037	131976037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131976037G>T	ENST00000356920.5	+	1	156	c.62G>T	c.(61-63)aGg>aTg	p.R21M	POTEE_ENST00000358087.5_Missense_Mutation_p.R21M|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	21					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTTGGTCTCAGGAGCAAGATG	0.552																																						ENST00000356920.5																			0											c.(61-63)aGg>aTg		POTE ankyrin domain family, member E							60.0	74.0	69.0					2																	131976037		2193	4293	6486	SO:0001583	missense	445582						ATP binding	g.chr2:131976037G>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.62G>T	2.37:g.131976037G>T	ENSP00000439189:p.Arg21Met					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R21M|PLEKHB2_ENST00000404460.1_Intron	p.R21M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	156	+			21					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.62G>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.848	1.192929	0.21954	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	D;T	0.81821	-1.54;0.81	0.1	0.1	0.14510	.	.	.	.	.	T	0.70833	0.3269	L	0.27053	0.805	0.09310	N	1	P	0.46578	0.88	P	0.46208	0.507	T	0.61715	-0.7006	8	0.87932	D	0	.	.	.	.	.	21	Q6S8J3	POTEE_HUMAN	M	21	ENSP00000439189:R21M;ENSP00000443049:R21M	ENSP00000439189:R21M	R	+	2	0	AC131180.1	131692507	0.002000	0.14202	0.046000	0.18839	0.047000	0.14425	0.734000	0.26101	0.170000	0.19704	0.173000	0.16961	AGG		0.552	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		51	726	1	0	7.50695e-29	1	8.75429e-29	51	726				
HSPA6	3310	broad.mit.edu	37	1	161495386	161495386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495386G>A	ENST00000309758.4	+	1	1351	c.938G>A	c.(937-939)cGc>cAc	p.R313H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACCTCTTCCGCAGCACCCTG	0.632																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(937-939)cGc>cAc		heat shock 70kDa protein 6 (HSP70B')							20.0	23.0	22.0					1																	161495386		2201	4295	6496	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495386G>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.938G>A	1.37:g.161495386G>A	ENSP00000310219:p.Arg313His						p.R313H	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1351	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		313					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.938G>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	17.93	3.509864	0.64522	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01051	5.4	3.12	3.12	0.35913	.	0.187022	0.25919	U	0.027454	T	0.04815	0.0130	M	0.90922	3.16	0.44110	D	0.99688	D	0.89917	1.0	D	0.91635	0.999	T	0.02691	-1.1123	10	0.87932	D	0	.	11.6907	0.51514	0.0:0.0:1.0:0.0	.	313	P17066	HSP76_HUMAN	H	313;289	ENSP00000310219:R313H	ENSP00000310219:R313H	R	+	2	0	HSPA6	159762010	1.000000	0.71417	0.930000	0.37139	0.643000	0.38383	5.496000	0.66918	1.544000	0.49359	0.543000	0.68304	CGC		0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		34	152	0	0	0	1	0	34	152				
UNC13A	23025	broad.mit.edu	37	19	17735744	17735744	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17735744T>C	ENST00000519716.2	-	35	4090	c.4091A>G	c.(4090-4092)aAa>aGa	p.K1364R	UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000428389.2_Missense_Mutation_p.K1452R	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1364	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCACAGATTTTGGCAAAGAG	0.582																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4354-4356)aAa>aGa		unc-13 homolog A (C. elegans)							55.0	60.0	58.0					19																	17735744		2004	4181	6185	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17735744T>C	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4091A>G	19.37:g.17735744T>C	ENSP00000429562:p.Lys1364Arg					UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000519716.2_Missense_Mutation_p.K1364R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R	p.K1452R			Q9UPW8	UN13A_HUMAN			36	4354	-			1364			MHD2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4355A>G	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539558	0.45176	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	4.11	4.11	0.48088	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.182364	0.46758	N	0.000279	T	0.22003	0.0530	L	0.56769	1.78	0.39639	D	0.97029	B	0.06786	0.001	B	0.15870	0.014	T	0.05767	-1.0865	10	0.44086	T	0.13	-13.8649	11.3947	0.49834	0.0:0.0:0.0:1.0	.	1364	Q9UPW8	UN13A_HUMAN	R	1364;1452;1364;1364;1364;1362	ENSP00000429562:K1364R;ENSP00000400409:K1452R;ENSP00000252773:K1364R;ENSP00000447236:K1364R;ENSP00000447572:K1364R;ENSP00000446831:K1362R	ENSP00000252773:K1364R	K	-	2	0	UNC13A	17596744	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.824000	0.55723	1.648000	0.50643	0.254000	0.18369	AAA		0.582	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		53	237	0	0	0	1	0	53	237				
ABCC9	10060	broad.mit.edu	37	12	21958192	21958192	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21958192A>G	ENST00000261201.4	-	38	4565	c.4566T>C	c.(4564-4566)ggT>ggC	p.G1522G	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Silent_p.G1486G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1522	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCACTAAAATACCCTCAGAAA	0.408																																						ENST00000261201.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(4564-4566)ggT>ggC		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						132.0	121.0	125.0					12																	21958192		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21958192A>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4566T>C	12.37:g.21958192A>G						ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Silent_p.G1486G	p.G1522G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN			38	4565	-			1522			ABC transporter 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.4566T>C	CCDS8694.1																																																																																				0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		6	206	0	0	0	1	0	6	206				
SUSD2	56241	broad.mit.edu	37	22	24583229	24583229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583229G>A	ENST00000358321.3	+	11	1963	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	568	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATCAGGGGCCGGCCTGGAGGT	0.642																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1702-1704)Ggc>Agc		sushi domain containing 2							126.0	104.0	111.0					22																	24583229		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24583229G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1702G>A	22.37:g.24583229G>A	ENSP00000351075:p.Gly568Ser						p.G568S	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			11	1963	+			568			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1702G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459459	0.84317	.	.	ENSG00000099994	ENST00000358321	T	0.60920	0.15	4.36	4.36	0.52297	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.62088	1.915	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.72418	-0.4300	10	0.41790	T	0.15	-41.8882	14.8174	0.70045	0.0:0.0:1.0:0.0	.	568	Q9UGT4	SUSD2_HUMAN	S	568	ENSP00000351075:G568S	ENSP00000351075:G568S	G	+	1	0	SUSD2	22913229	1.000000	0.71417	0.982000	0.44146	0.365000	0.29674	7.173000	0.77612	2.152000	0.67230	0.449000	0.29647	GGC		0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		9	226	0	0	0	1	0	9	226				
AMDHD2	51005	broad.mit.edu	37	16	2570854	2570854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2570854G>A	ENST00000293971.6	+	2	262	c.168G>A	c.(166-168)cgG>cgA	p.R56R	AMDHD2_ENST00000302956.4_Silent_p.R56R|AMDHD2_ENST00000413459.3_Silent_p.R56R|ATP6C_ENST00000569317.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	56					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						ACGAGCGGCGGGACTGCGGGG	0.697																																						ENST00000302956.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(166-168)cgG>cgA		amidohydrolase domain containing 2							22.0	30.0	27.0					16																	2570854		2194	4294	6488	SO:0001819	synonymous_variant	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2570854G>A	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.168G>A	16.37:g.2570854G>A						ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.R56R|AMDHD2_ENST00000413459.3_Silent_p.R56R	p.R56R			Q9Y303	NAGA_HUMAN			2	262	+			56					B4DL77|Q8WV54	Silent	SNP	ENST00000293971.6	37	c.168G>A																																																																																					0.697	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		81	306	0	0	0	1	0	81	306				
PTPN14	5784	broad.mit.edu	37	1	214575046	214575046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214575046C>A	ENST00000366956.5	-	7	845	c.651G>T	c.(649-651)caG>caT	p.Q217H	PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	217	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAAGATTTCCTGTCCAAATC	0.428																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(649-651)caG>caT		protein tyrosine phosphatase, non-receptor type 14							192.0	189.0	190.0					1																	214575046		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214575046C>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.651G>T	1.37:g.214575046C>A	ENSP00000355923:p.Gln217His					PTPN14_ENST00000543945.1_Intron	p.Q217H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	7	845	-			217			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.651G>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180272	0.78677	.	.	ENSG00000152104	ENST00000366956	T	0.77750	-1.12	5.28	5.28	0.74379	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.85252	0.1045	10	0.33940	T	0.23	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	217	Q15678	PTN14_HUMAN	H	217	ENSP00000355923:Q217H	ENSP00000355923:Q217H	Q	-	3	2	PTPN14	212641669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.082000	0.41605	2.469000	0.83416	0.557000	0.71058	CAG		0.428	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		13	825	1	0	0.00244969	1	0.00247089	13	825				
TANC2	26115	broad.mit.edu	37	17	61499068	61499068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61499068G>A	ENST00000424789.2	+	25	5729	c.5725G>A	c.(5725-5727)Gca>Aca	p.A1909T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1909					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AACCAACAATGCACAGAATGG	0.542																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5725-5727)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							92.0	90.0	91.0					17																	61499068		2078	4214	6292	SO:0001583	missense	26115						binding	g.chr17:61499068G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5725G>A	17.37:g.61499068G>A	ENSP00000387593:p.Ala1909Thr					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T	p.A1909T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5729	+			1909					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.5725G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061563	0.76187	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.68503	-0.5391	10	0.30078	T	0.28	.	18.4431	0.90674	0.0:0.0:1.0:0.0	.	1909	Q9HCD6	TANC2_HUMAN	T	1919;1909	ENSP00000374171:A1919T;ENSP00000387593:A1909T	ENSP00000374171:A1919T	A	+	1	0	TANC2	58852800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.806000	0.86020	2.868000	0.98415	0.555000	0.69702	GCA		0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			67	261	0	0	0	1	0	67	261				
CSTF1	1477	broad.mit.edu	37	20	54974226	54974226	+	Silent	SNP	C	C	T	rs373049003		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54974226C>T	ENST00000217109.4	+	5	1201	c.849C>T	c.(847-849)gaC>gaT	p.D283D	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	283					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GAAGCAAGGACGGCTGCATCA	0.393																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(847-849)gaC>gaT		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							182.0	159.0	166.0					20																	54974226		2203	4300	6503	SO:0001819	synonymous_variant	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54974226C>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.849C>T	20.37:g.54974226C>T						CSTF1_ENST00000493039.1_3'UTR	p.D283D	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		5	1201	+			283					Q5QPD8	Silent	SNP	ENST00000217109.4	37	c.849C>T	CCDS13452.1																																																																																				0.393	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		11	616	0	0	0	1	0	11	616				
NACA	4666	broad.mit.edu	37	12	57111655	57111655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57111655G>A	ENST00000454682.1	-	3	3940	c.3659C>T	c.(3658-3660)aCc>aTc	p.T1220I	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1220	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCAGCTGGGGTTGTGGGGGC	0.647			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3658-3660)aCc>aTc		nascent polypeptide-associated complex alpha subunit							61.0	75.0	71.0					12																	57111655		1095	2641	3736	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111655G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3659C>T	12.37:g.57111655G>A	ENSP00000403817:p.Thr1220Ile					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron	p.T1220I	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3940	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3659C>T		.	.	.	.	.	.	.	.	.	.	g	5.864	0.343665	0.11126	.	.	ENSG00000196531	ENST00000454682	T	0.44482	0.92	3.18	0.925	0.19424	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.09310	N	1	B	0.24618	0.107	B	0.25884	0.064	T	0.23583	-1.0184	7	.	.	.	.	7.972	0.30132	0.0:0.0:0.5635:0.4365	.	1220	E9PAV3	.	I	1220	ENSP00000403817:T1220I	.	T	-	2	0	NACA	55397922	0.009000	0.17119	0.000000	0.03702	0.181000	0.23173	1.415000	0.34748	0.273000	0.22049	0.186000	0.17326	ACC		0.647	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		132	549	0	0	0	1	0	132	549				
LOC148709	148709	broad.mit.edu	37	1	202843176	202843176	+	lincRNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202843176G>T	ENST00000456105.2	+	0	1128					NR_002929.2																						GCATCCACCAGGCCACCTTCA	0.562																																						ENST00000456105.2																			0																																																			0							g.chr1:202843176G>T																													1.37:g.202843176G>T								NR_002929.2						0	1128	+									RNA	SNP	ENST00000456105.2	37																																																																																						0.562	RP11-480I12.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099158.2			11	58	1	0	0.010729	1	0.0107869	11	58				
TBC1D7	51256	broad.mit.edu	37	6	13316855	13316855	+	Missense_Mutation	SNP	C	C	T	rs549062038		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13316855C>T	ENST00000379300.3	-	5	710	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R129Q|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R129Q|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	156	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CACAAAGCGTCGGGTGATCCA	0.428																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(385-387)cGa>cAa		TBC1 domain family, member 7							189.0	198.0	195.0					6																	13316855		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13316855C>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.467G>A	6.37:g.13316855C>T	ENSP00000368602:p.Arg156Gln					TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R156Q|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R129Q	p.R129Q			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		4	536	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	156			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.386G>A	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211334	0.79240	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109	T;T;T;T;T;T;T;T;T;T	0.33438	1.54;2.8;2.8;2.8;2.8;2.8;2.8;2.8;1.54;1.41	5.92	5.05	0.67936	Rab-GAP/TBC domain (2);	0.156362	0.56097	D	0.000034	T	0.19005	0.0456	M	0.62723	1.935	0.80722	D	1	P;P;P	0.48230	0.873;0.792;0.907	B;B;B	0.40782	0.34;0.156;0.217	T	0.02713	-1.1120	10	0.28530	T	0.3	-2.6382	14.2193	0.65815	0.0:0.929:0.0:0.071	.	129;129;156	Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;TBCD7_HUMAN	Q	97;156;156;156;129;129;129;156;129;129;156	ENSP00000401438:R156Q;ENSP00000348813:R156Q;ENSP00000368602:R156Q;ENSP00000368609:R129Q;ENSP00000414292:R129Q;ENSP00000404680:R129Q;ENSP00000394425:R156Q;ENSP00000417005:R129Q;ENSP00000412102:R129Q;ENSP00000414101:R156Q	ENSP00000334212:R97Q	R	-	2	0	TBC1D7	13424834	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	3.062000	0.49971	1.528000	0.49103	0.650000	0.86243	CGA		0.428	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		47	899	0	0	0	1	0	47	899				
NINL	22981	broad.mit.edu	37	20	25457376	25457376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25457376G>A	ENST00000278886.6	-	17	2624	c.2551C>T	c.(2551-2553)Ccg>Tcg	p.P851S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	851					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCACAGCCCGGACGCAGTGGT	0.706																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2551-2553)Ccg>Tcg		ninein-like							17.0	18.0	18.0					20																	25457376		2195	4289	6484	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457376G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2551C>T	20.37:g.25457376G>A	ENSP00000278886:p.Pro851Ser					NINL_ENST00000422516.1_Intron	p.P851S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			17	2624	-			851					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2551C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914602	0.17907	.	.	ENSG00000101004	ENST00000278886	T	0.30448	1.53	2.44	1.47	0.22746	.	0.385935	0.21657	N	0.071096	T	0.15349	0.0370	N	0.24115	0.695	0.09310	N	1	P	0.48834	0.916	B	0.42522	0.39	T	0.16158	-1.0412	10	0.06494	T	0.89	-1.3398	6.899	0.24273	0.0:0.3611:0.6389:0.0	.	851	Q9Y2I6	NINL_HUMAN	S	851	ENSP00000278886:P851S	ENSP00000278886:P851S	P	-	1	0	NINL	25405376	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.438000	0.21559	0.604000	0.29930	0.561000	0.74099	CCG		0.706	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		33	122	0	0	0	1	0	33	122				
PLCL1	5334	broad.mit.edu	37	2	198949647	198949647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198949647G>A	ENST00000428675.1	+	2	1804	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	469	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R371Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTTTCCTTTCGAAGTGTCATA	0.403																																						ENST00000428675.1																			1	Substitution - Missense(1)	p.R371Q(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1405-1407)cGa>cAa		phospholipase C-like 1	Quinacrine(DB01103)						54.0	53.0	53.0					2																	198949647		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949647G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1406G>A	2.37:g.198949647G>A	ENSP00000402861:p.Arg469Gln					PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	p.R469Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1804	+			469			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1406G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414630	0.25465	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.65178	-0.14;-0.14	5.94	1.98	0.26296	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.650704	0.14405	N	0.321604	T	0.46073	0.1374	L	0.48642	1.525	0.42717	D	0.993666	B;B	0.32604	0.377;0.254	B;B	0.28232	0.087;0.055	T	0.23619	-1.0183	9	.	.	.	.	2.9874	0.05972	0.2537:0.1133:0.5166:0.1164	.	469;395	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	469;371	ENSP00000402861:R469Q;ENSP00000414138:R371Q	.	R	+	2	0	PLCL1	198657892	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	2.506000	0.45433	0.083000	0.17047	0.561000	0.74099	CGA		0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		51	165	0	0	0	1	0	51	165				
KRTAP5-1	387264	broad.mit.edu	37	11	1606276	1606276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1606276G>A	ENST00000382171.2	-	1	237	c.204C>T	c.(202-204)ggC>ggT	p.G68G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	68	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCACAGCCCCCTTTGC	0.662																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(202-204)ggC>ggT		keratin associated protein 5-1							77.0	94.0	89.0					11																	1606276		2201	4299	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606276G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.204C>T	11.37:g.1606276G>A						KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	p.G68G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	237	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	68			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.204C>T	CCDS31330.1																																																																																				0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		211	1011	0	0	0	1	0	211	1011				
FAM179B	23116	broad.mit.edu	37	14	45433278	45433278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45433278G>A	ENST00000361577.3	+	1	1868	c.1654G>A	c.(1654-1656)Gct>Act	p.A552T	FAM179B_ENST00000361462.2_Missense_Mutation_p.A552T|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T|KLHL28_ENST00000553817.1_5'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	552										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTTTTTAAAGCTGTGGATAC	0.468																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1654-1656)Gct>Act		family with sequence similarity 179, member B							118.0	120.0	119.0					14																	45433278		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433278G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1654G>A	14.37:g.45433278G>A	ENSP00000355045:p.Ala552Thr					KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.A552T|FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T	p.A552T			Q9Y4F4	F179B_HUMAN			1	1837	+			552					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1654G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413625	0.83449	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04551	3.6;3.6;3.6	4.47	4.47	0.54385	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.16041	0.0386	L	0.46614	1.455	0.58432	D	0.999998	D;D;D;D	0.89917	0.99;1.0;1.0;0.99	D;D;D;D	0.91635	0.98;0.998;0.999;0.98	T	0.01349	-1.1378	10	0.42905	T	0.14	-12.3087	16.9161	0.86152	0.0:0.0:1.0:0.0	.	552;552;552;552	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	552	ENSP00000355045:A552T;ENSP00000354917:A552T;ENSP00000371668:A552T	ENSP00000354917:A552T	A	+	1	0	FAM179B	44503028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	2.311000	0.77944	0.561000	0.74099	GCT		0.468	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		89	436	0	0	0	1	0	89	436				
LOC283683	283683	broad.mit.edu	37	15	23108758	23108758	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23108758G>A	ENST00000557922.1	-	0	371					NR_040057.1																						TTACCTGGTTGCTTGACCCAC	0.393																																						ENST00000557922.1																			0																																																			0							g.chr15:23108758G>A																													15.37:g.23108758G>A								NR_040057.1						0	371	-									RNA	SNP	ENST00000557922.1	37																																																																																						0.393	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			26	100	0	0	0	1	0	26	100				
OVCH1	341350	broad.mit.edu	37	12	29629167	29629167	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29629167G>A	ENST00000318184.5	-	13	1442	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	481	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGAATCACCGTAAATCACAA	0.398																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1441-1443)taC>taT		ovochymase 1							193.0	184.0	187.0					12																	29629167		1885	4115	6000	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29629167G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1443C>T	12.37:g.29629167G>A						OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.Y481Y	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			13	1442	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		481			CUB 2.			Silent	SNP	ENST00000318184.5	37	c.1443C>T																																																																																					0.398	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		111	637	0	0	0	1	0	111	637				
LGALS3	3958	broad.mit.edu	37	14	55605066	55605066	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55605066G>T	ENST00000254301.9	+	3	583	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Missense_Mutation_p.G108C	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	108	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TGGCCCCTATGGCGCCCCTGC	0.612																																						ENST00000254301.9																			0				central_nervous_system(1)|endometrium(1)|prostate(1)	3						c.(322-324)Ggc>Tgc		lectin, galactoside-binding, soluble, 3							21.0	23.0	22.0					14																	55605066		1581	3657	5238	SO:0001583	missense	3958				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding	g.chr14:55605066G>T	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.322G>T	14.37:g.55605066G>T	ENSP00000254301:p.Gly108Cys					LGALS3_ENST00000554715.1_Missense_Mutation_p.G108C|LGALS3_ENST00000553755.1_3'UTR	p.G108C	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN			3	583	+			108			8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.		B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	37	c.322G>T	CCDS41956.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201404	0.22121	.	.	ENSG00000131981	ENST00000254301;ENST00000554715	T;T	0.09723	3.61;2.95	5.58	3.66	0.41972	.	2.278500	0.01719	N	0.028192	T	0.15955	0.0384	N	0.14661	0.345	0.19775	N	0.999956	D	0.71674	0.998	P	0.58013	0.831	T	0.30475	-0.9977	10	0.39692	T	0.17	-2.8531	8.0152	0.30376	0.2051:0.0:0.7949:0.0	.	108	P17931	LEG3_HUMAN	C	108	ENSP00000254301:G108C;ENSP00000451381:G108C	ENSP00000254301:G108C	G	+	1	0	LGALS3	54674819	0.466000	0.25823	0.236000	0.24074	0.389000	0.30415	1.162000	0.31786	1.266000	0.44231	0.655000	0.94253	GGC		0.612	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306		9	194	1	0	0.0477658	1	0.0478703	9	194				
CDCA8	55143	broad.mit.edu	37	1	38168953	38168953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38168953C>T	ENST00000373055.1	+	7	791	c.518C>T	c.(517-519)gCc>gTc	p.A173V	CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	173					chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTACCCCAGCCGTGGGCCGA	0.537																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(517-519)gCc>gTc		cell division cycle associated 8							196.0	175.0	182.0					1																	38168953		2203	4300	6503	SO:0001583	missense	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38168953C>T	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.518C>T	1.37:g.38168953C>T	ENSP00000362146:p.Ala173Val					CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			7	791	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	173					D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	37	c.518C>T	CCDS424.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444363	0.63178	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.61627	0.09;0.09	5.81	5.81	0.92471	.	0.051856	0.85682	D	0.000000	T	0.71710	0.3372	L	0.54323	1.7	0.52501	D	0.99995	D	0.69078	0.997	D	0.80764	0.994	T	0.71573	-0.4552	10	0.54805	T	0.06	-11.3016	15.5657	0.76290	0.0:1.0:0.0:0.0	.	173	Q53HL2	BOREA_HUMAN	V	173	ENSP00000362146:A173V;ENSP00000316121:A173V	ENSP00000316121:A173V	A	+	2	0	CDCA8	37941540	0.973000	0.33851	0.982000	0.44146	0.059000	0.15707	3.905000	0.56333	2.735000	0.93741	0.637000	0.83480	GCC		0.537	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		67	677	0	0	0	1	0	67	677				
TGM3	7053	broad.mit.edu	37	20	2308989	2308989	+	Silent	SNP	G	G	A	rs540980778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2308989G>A	ENST00000381458.5	+	9	1374	c.1311G>A	c.(1309-1311)acG>acA	p.T437T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	437					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGACGTCACGGACAAGTACA	0.567																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1309-1311)acG>acA		transglutaminase 3	L-Glutamine(DB00130)						87.0	72.0	77.0					20																	2308989		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2308989G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1311G>A	20.37:g.2308989G>A							p.T437T	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			9	1374	+			437					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.1311G>A	CCDS33435.1																																																																																				0.567	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		42	197	0	0	0	1	0	42	197				
DIO3	1735	broad.mit.edu	37	14	102028036	102028036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028036G>A	ENST00000510508.4	+	1	349	c.203G>A	c.(202-204)cGc>cAc	p.R68H	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.R42H			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	68					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGTGTATCCGCAAGCATTTC	0.662																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(124-126)cGc>cAc		deiodinase, iodothyronine, type III							45.0	49.0	48.0					14																	102028036		2001	4154	6155	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028036G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.203G>A	14.37:g.102028036G>A	ENSP00000427336:p.Arg68His					DIO3_ENST00000510508.4_Missense_Mutation_p.R68H	p.R42H	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	349	+		all_neural(303;0.185)	42					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.125G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	g	18.92	3.724684	0.68959	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.34859	1.34;1.34	3.19	3.19	0.36642	.	0.000000	0.52532	U	0.000079	T	0.60792	0.2296	M	0.83118	2.625	0.38816	D	0.955529	D	0.89917	1.0	D	0.91635	0.999	T	0.69109	-0.5232	10	0.54805	T	0.06	.	13.1046	0.59239	0.0:0.0:1.0:0.0	.	42	P55073	IOD3_HUMAN	H	42;68	ENSP00000352273:R42H;ENSP00000427336:R68H	ENSP00000352273:R68H	R	+	2	0	DIO3;AL049836.1	101097789	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	9.485000	0.97942	1.603000	0.50134	0.450000	0.29827	CGC		0.662	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		66	432	0	0	0	1	0	66	432				
ZNF609	23060	broad.mit.edu	37	15	64915077	64915077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64915077C>T	ENST00000326648.3	+	2	927	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	267						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTTTGGTGCCAGTGGTCAA	0.512																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(799-801)Cca>Tca		zinc finger protein 609							200.0	177.0	185.0					15																	64915077		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64915077C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.799C>T	15.37:g.64915077C>T	ENSP00000316527:p.Pro267Ser						p.P267S	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			2	927	+			267					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.799C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258531	0.23051	.	.	ENSG00000180357	ENST00000326648	T	0.50813	0.73	5.61	5.61	0.85477	.	0.116785	0.64402	D	0.000009	T	0.41604	0.1166	L	0.31664	0.95	0.80722	D	1	P	0.36683	0.565	B	0.41917	0.37	T	0.14476	-1.0471	10	0.07030	T	0.85	-22.871	19.6299	0.95698	0.0:1.0:0.0:0.0	.	267	O15014	ZN609_HUMAN	S	267	ENSP00000316527:P267S	ENSP00000316527:P267S	P	+	1	0	ZNF609	62702130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.044000	0.49830	2.639000	0.89480	0.655000	0.94253	CCA		0.512	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		25	668	0	0	0	1	0	25	668				
TNC	3371	broad.mit.edu	37	9	117827095	117827095	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117827095A>C	ENST00000350763.4	-	11	3729	c.3318T>G	c.(3316-3318)atT>atG	p.I1106M	TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1106	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGCACCTGAATGATAAAGT	0.602																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(3316-3318)atT>atG		tenascin C							107.0	90.0	96.0					9																	117827095		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117827095A>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3318T>G	9.37:g.117827095A>C	ENSP00000265131:p.Ile1106Met					TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000542877.1_Intron	p.I1106M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			11	3729	-			1106			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3318T>G	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.00|14.00	2.406097|2.406097	0.42715|0.42715	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613|ENST00000544972	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.63|5.63	3.2|3.2	0.36748|0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.069034|.	0.56097|.	D|.	0.000025|.	T|T	0.65780|0.65780	0.2724|0.2724	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.79108|.	0.992;0.988|.	T|T	0.63699|0.63699	-0.6578|-0.6578	10|5	0.87932|.	D|.	0|.	.|.	0.971|0.971	0.01416|0.01416	0.4264:0.1535:0.2724:0.1477|0.4264:0.1535:0.2724:0.1477	.|.	1106;1106|.	E9PC84;P24821|.	.;TENA_HUMAN|.	M|A	1106|33	ENSP00000265131:I1106M;ENSP00000339553:I1106M;ENSP00000411406:I1106M|.	ENSP00000339553:I1106M|.	I|S	-|-	3|1	3|0	TNC|TNC	116866916|116866916	0.948000|0.948000	0.32251|0.32251	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	0.097000|0.097000	0.15168|0.15168	0.377000|0.377000	0.24735|0.24735	-0.408000|-0.408000	0.06270|0.06270	ATT|TCA		0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		96	486	0	0	0	1	0	96	486				
SPOCD1	90853	broad.mit.edu	37	1	32256723	32256723	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32256723C>A	ENST00000360482.2	-	16	3261	c.3132G>T	c.(3130-3132)gaG>gaT	p.E1044D	SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1044					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTATCTCTTCTCCACCTTAC	0.602																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(3130-3132)gaG>gaT		SPOC domain containing 1							24.0	25.0	25.0					1																	32256723		2203	4298	6501	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32256723C>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3132G>T	1.37:g.32256723C>A	ENSP00000353670:p.Glu1044Asp					SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D	p.E1044D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	16	3261	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	1044					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.3132G>T	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.050524|3.050524	0.55218|0.55218	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231|ENST00000294514	T;T;T;T|.	0.54866|.	0.56;1.01;0.55;1.37|.	4.88|4.88	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.42314|0.42314	0.1197|0.1197	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32101|.	0.356;0.137;0.243|.	B;B;B|.	0.36719|.	0.231;0.049;0.116|.	T|T	0.31779|0.31779	-0.9931|-0.9931	9|6	0.32370|0.87932	T|D	0.25|0	-15.6466|-15.6466	5.119|5.119	0.14851|0.14851	0.0:0.6375:0.1746:0.1879|0.0:0.6375:0.1746:0.1879	.|.	1031;467;1044|.	Q6ZMY3-2;E9PPM7;Q6ZMY3|.	.;.;SPOC1_HUMAN|.	D|I	524;1044;467;1031|329	ENSP00000257100:E524D;ENSP00000353670:E1044D;ENSP00000399778:E467D;ENSP00000435851:E1031D|.	ENSP00000257100:E524D|ENSP00000294514:R329I	E|R	-|-	3|2	2|0	SPOCD1|SPOCD1	32029310|32029310	0.902000|0.902000	0.30710|0.30710	0.498000|0.498000	0.27564|0.27564	0.818000|0.818000	0.46254|0.46254	0.838000|0.838000	0.27572|0.27572	0.294000|0.294000	0.22547|0.22547	-0.175000|-0.175000	0.13238|0.13238	GAG|AGA		0.602	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		14	118	1	0	1.3612e-06	1	1.40558e-06	14	118				
TMX4	56255	broad.mit.edu	37	20	7963119	7963119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963119C>T	ENST00000246024.2	-	8	1044	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	277	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tcttcttcctctgcttcatcc	0.502																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(829-831)Gag>Aag		thioredoxin-related transmembrane protein 4							153.0	116.0	128.0					20																	7963119		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963119C>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.829G>A	20.37:g.7963119C>T	ENSP00000246024:p.Glu277Lys						p.E277K	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			8	1044	-			277			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.829G>A	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092491	0.36952	.	.	ENSG00000125827	ENST00000246024	T	0.11821	2.74	5.33	5.33	0.75918	.	0.249655	0.36101	N	0.002798	T	0.19287	0.0463	L	0.35288	1.05	0.38875	D	0.956772	D	0.55172	0.97	P	0.51833	0.681	T	0.00728	-1.1591	10	0.72032	D	0.01	-5.5676	14.8709	0.70456	0.0:1.0:0.0:0.0	.	277	Q9H1E5	TMX4_HUMAN	K	277	ENSP00000246024:E277K	ENSP00000246024:E277K	E	-	1	0	TMX4	7911119	0.583000	0.26757	0.955000	0.39395	0.461000	0.32589	4.085000	0.57657	2.653000	0.90120	0.557000	0.71058	GAG		0.502	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		56	256	0	0	0	1	0	56	256				
HSPB6	126393	broad.mit.edu	37	19	36245052	36245052	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36245052C>T	ENST00000592984.1	-	0	1634				AC002398.12_ENST00000587767.1_RNA|AC002398.9_ENST00000591613.2_3'UTR|LIN37_ENST00000301159.9_Silent_p.D193D|AC002398.11_ENST00000591091.1_RNA			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACCCCTGACGATGAGGTGA	0.642																																						ENST00000301159.9																			0				large_intestine(1)|lung(5)	6						c.(577-579)gaC>gaT		lin-37 homolog (C. elegans)							50.0	56.0	54.0					19																	36245052		2089	4213	6302	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245052C>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245052C>T						AC002398.9_ENST00000591613.2_3'UTR	p.D193D	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	943	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		193			Pro-rich.		O14551|Q6NVI3|Q96MG9	Silent	SNP	ENST00000592984.1	37	c.579C>T	CCDS12475.1																																																																																				0.642	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		58	244	0	0	0	1	0	58	244				
TTN	7273	broad.mit.edu	37	2	179457732	179457732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179457732C>T	ENST00000591111.1	-	250	54415	c.54191G>A	c.(54190-54192)cGt>cAt	p.R18064H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19705H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18064	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ACCATCATGACGTGGTGGCTG	0.418																																						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.(59113-59115)cGt>cAt		titin							155.0	150.0	151.0					2																	179457732		1913	4132	6045	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457732C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54191G>A	2.37:g.179457732C>T	ENSP00000465570:p.Arg18064His					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18064H|TTN-AS1_ENST00000592689.1_RNA	p.R19705H	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)		300	59338	-			18064			Fibronectin type-III 42.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.59114G>A		.	.	.	.	.	.	.	.	.	.	C	12.71	2.018629	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69824	0.3154	L	0.58428	1.81	0.50632	D	0.999883	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62491	0.903;0.903;0.903;0.903	T	0.69183	-0.5212	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10640;10765;10832;18064	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	17137;10640;10832;10765;10638	ENSP00000343764:R17137H;ENSP00000434586:R10640H;ENSP00000340554:R10832H;ENSP00000352154:R10765H	ENSP00000340554:R10832H	R	-	2	0	TTN	179165978	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	2.937000	0.99478	0.650000	0.86243	CGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		239	599	0	0	0	1	0	239	599				
AUTS2	26053	broad.mit.edu	37	7	70231115	70231115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231115G>A	ENST00000342771.4	+	9	1805	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	495										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACATCTTGCGACAGGAACTG	0.582																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1483-1485)cGa>cAa		autism susceptibility candidate 2							134.0	129.0	131.0					7																	70231115		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70231115G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1484G>A	7.37:g.70231115G>A	ENSP00000344087:p.Arg495Gln					AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	p.R495Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	9	1805	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	495					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1484G>A	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.468726|5.468726	0.96274|0.96274	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000443672|ENST00000406775;ENST00000342771	.|T;T	.|0.54071	.|0.59;0.59	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.114328	.|0.64402	.|D	.|0.000016	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.995	T|T	0.68307|0.68307	-0.5443|-0.5443	5|9	.|.	.|.	.|.	-9.7214|-9.7214	19.9983|19.9983	0.97395|0.97395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|495;495	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	N|Q	37|495	.|ENSP00000385263:R495Q;ENSP00000344087:R495Q	.|.	D|R	+|+	1|2	0|0	AUTS2|AUTS2	69869051|69869051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.159000|9.159000	0.94728|0.94728	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.582	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			74	328	0	0	0	1	0	74	328				
ESCO1	114799	broad.mit.edu	37	18	19144199	19144199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19144199C>A	ENST00000269214.5	-	7	2723	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	596					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTCTCTGCTTCTTTTAGTTTC	0.313																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1786-1788)Gaa>Taa		establishment of sister chromatid cohesion N-acetyltransferase 1							111.0	103.0	105.0					18																	19144199		2203	4299	6502	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19144199C>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1786G>T	18.37:g.19144199C>A	ENSP00000269214:p.Glu596*						p.E596*	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			7	2723	-			596					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.1786G>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	47	13.135262	0.99722	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	4.92	4.92	0.64577	.	0.348404	0.30193	N	0.010188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.8435	17.4868	0.87691	0.0:1.0:0.0:0.0	.	.	.	.	X	596	.	ENSP00000269214:E596X	E	-	1	0	ESCO1	17398197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.708000	0.61859	2.456000	0.83038	0.655000	0.94253	GAA		0.313	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		15	70	1	0	1.15088e-07	1	1.19614e-07	15	70				
C1QA	712	broad.mit.edu	37	1	22964203	22964203	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22964203A>T	ENST00000374642.3	+	2	298	c.94A>T	c.(94-96)Aag>Tag	p.K32*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	32	Collagen-like.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCAGACGGGAAGAAAGGGGA	0.662																																						ENST00000374642.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(94-96)Aag>Tag		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						37.0	34.0	35.0					1																	22964203		2203	4300	6503	SO:0001587	stop_gained	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22964203A>T	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.94A>T	1.37:g.22964203A>T	ENSP00000363773:p.Lys32*					C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	p.K32*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	298	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	32			Collagen-like.		B2R4X2|Q5T963	Nonsense_Mutation	SNP	ENST00000374642.3	37	c.94A>T	CCDS226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.47|17.47	3.396592|3.396592	0.62177|0.62177	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000339353|ENST00000374642;ENST00000438241;ENST00000402322	.|.	.|.	.|.	4.88|4.88	0.85|0.85	0.18980|0.18980	.|.	2.869200|.	0.01757|.	N|.	0.030313|.	T|.	0.56587|.	0.1995|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66464|.	-0.5917|.	5|.	0.66056|0.51188	D|T	0.02|0.08	2.406|2.406	10.9783|10.9783	0.47480|0.47480	0.5354:0.4646:0.0:0.0|0.5354:0.4646:0.0:0.0	.|.	.|.	.|.	.|.	V|X	30|32	.|.	ENSP00000341271:E30V|ENSP00000363773:K32X	E|K	+|+	2|1	0|0	C1QA|C1QA	22836790|22836790	0.836000|0.836000	0.29430|0.29430	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	2.501000|2.501000	0.45389|0.45389	0.311000|0.311000	0.23014|0.23014	-0.488000|-0.488000	0.04728|0.04728	GAA|AAG		0.662	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		15	83	0	0	0	1	0	15	83				
ASTN2	23245	broad.mit.edu	37	9	119802151	119802151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119802151C>T	ENST00000313400.4	-	6	1470	c.1370G>A	c.(1369-1371)tGt>tAt	p.C457Y	ASTN2_ENST00000361209.2_Missense_Mutation_p.C406Y|ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	457					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTGAGTGGACAAGACATCTG	0.537																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1369-1371)tGt>tAt		astrotactin 2							113.0	90.0	97.0					9																	119802151		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119802151C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1370G>A	9.37:g.119802151C>T	ENSP00000314038:p.Cys457Tyr					ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.C406Y	p.C457Y			O75129	ASTN2_HUMAN			6	1470	-			457					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1370G>A		.	.	.	.	.	.	.	.	.	.	C	19.68	3.873619	0.72180	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.16897	2.45;2.45;2.31;2.49	5.92	5.92	0.95590	.	0.113047	0.64402	D	0.000008	T	0.33876	0.0878	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.991;0.999	T	0.00731	-1.1590	9	.	.	.	-13.2905	20.3138	0.98647	0.0:1.0:0.0:0.0	.	406;457;457	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Y	457;457;184;406	ENSP00000314038:C457Y;ENSP00000363108:C457Y;ENSP00000363098:C184Y;ENSP00000354504:C406Y	.	C	-	2	0	ASTN2	118841972	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.459000	0.80802	2.814000	0.96858	0.585000	0.79938	TGT		0.537	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		26	117	0	0	0	1	0	26	117				
ADAMTS3	9508	broad.mit.edu	37	4	73205355	73205355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73205355C>T	ENST00000286657.4	-	5	753	c.717G>A	c.(715-717)caG>caA	p.Q239Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	239					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTCAGCTGCTGGTGGATGT	0.478																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(715-717)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							222.0	216.0	218.0					4																	73205355		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205355C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.717G>A	4.37:g.73205355C>T							p.Q239Q	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	753	-			239					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.717G>A	CCDS3553.1																																																																																				0.478	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			183	809	0	0	0	1	0	183	809				
VCAM1	7412	broad.mit.edu	37	1	101190358	101190358	+	Silent	SNP	T	T	C	rs201887131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101190358T>C	ENST00000294728.2	+	4	941	c.840T>C	c.(838-840)gcT>gcC	p.A280A	VCAM1_ENST00000370119.4_Silent_p.A218A|VCAM1_ENST00000370115.1_Silent_p.A280A|VCAM1_ENST00000347652.2_Silent_p.A280A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	280	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTTAATTGCTATGAGGATGG	0.393																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(838-840)gcT>gcC		vascular cell adhesion molecule 1	Carvedilol(DB01136)						94.0	91.0	92.0					1																	101190358		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101190358T>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.840T>C	1.37:g.101190358T>C						VCAM1_ENST00000370115.1_Silent_p.A280A|VCAM1_ENST00000347652.2_Silent_p.A280A|VCAM1_ENST00000370119.4_Silent_p.A218A	p.A280A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	4	941	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	280			Ig-like C2-type 3.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.840T>C	CCDS773.1																																																																																				0.393	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		21	224	0	0	0	1	0	21	224				
HNRNPM	4670	broad.mit.edu	37	19	8548057	8548057	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8548057C>T	ENST00000325495.4	+	13	1177	c.1136C>T	c.(1135-1137)gCa>gTa	p.A379V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A340V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	379					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CTAAGTAATGCACTGAAGAGA	0.388																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1018-1020)gCa>gTa		heterogeneous nuclear ribonucleoprotein M							172.0	166.0	168.0					19																	8548057		2203	4300	6503	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8548057C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1136C>T	19.37:g.8548057C>T	ENSP00000325376:p.Ala379Val					HNRNPM_ENST00000325495.4_Missense_Mutation_p.A379V	p.A340V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			14	1251	+			379					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1019C>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528391	0.44969	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.14893	2.47;2.77	4.54	4.54	0.55810	.	0.531586	0.20813	N	0.085208	T	0.14527	0.0351	L	0.34521	1.04	0.39913	D	0.974059	B;B;B;B	0.21905	0.062;0.018;0.034;0.008	B;B;B;B	0.21708	0.036;0.011;0.036;0.011	T	0.04281	-1.0963	10	0.40728	T	0.16	.	13.1032	0.59233	0.0:1.0:0.0:0.0	.	219;379;340;264	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	379;340;264	ENSP00000325376:A379V;ENSP00000325732:A340V	ENSP00000325376:A379V	A	+	2	0	HNRNPM	8454057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.018000	0.49625	2.822000	0.97130	0.650000	0.86243	GCA		0.388	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			40	290	0	0	0	1	0	40	290				
STAT3	6774	broad.mit.edu	37	17	40468908	40468908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40468908C>T	ENST00000264657.5	-	23	2468	c.2156G>A	c.(2155-2157)aGc>aAc	p.S719N	STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N|STAT3_ENST00000585517.1_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	719					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATGGTATTGCTGCAGGTCGT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2155-2157)aGc>aAc		signal transducer and activator of transcription 3 (acute-phase response factor)							50.0	51.0	51.0					17																	40468908		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40468908C>T	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2156G>A	17.37:g.40468908C>T	ENSP00000264657:p.Ser719Asn					STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N	p.S719N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	23	2468	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	719					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.2156G>A	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156564	0.57259	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.96651	-4.08;-4.08;-4.08	5.09	5.09	0.68999	.	0.211503	0.49305	D	0.000154	D	0.91593	0.7344	N	0.14661	0.345	0.45718	D	0.998629	B;B	0.22146	0.065;0.039	B;B	0.18871	0.023;0.01	D	0.87653	0.2529	10	0.22706	T	0.39	-36.6963	18.6865	0.91567	0.0:1.0:0.0:0.0	.	718;719	P40763-2;P40763	.;STAT3_HUMAN	N	719;621;718	ENSP00000264657:S719N;ENSP00000373923:S621N;ENSP00000384943:S718N	ENSP00000264657:S719N	S	-	2	0	STAT3	37722434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.012000	0.70767	2.662000	0.90505	0.655000	0.94253	AGC		0.483	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		72	206	0	0	0	1	0	72	206				
COL5A2	1290	broad.mit.edu	37	2	189917698	189917698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189917698C>T	ENST00000374866.3	-	39	2874	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	867					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCTTCTGTCCTGGCTCTCC	0.433																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2599-2601)gGa>gAa		collagen, type V, alpha 2							92.0	84.0	87.0					2																	189917698		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189917698C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2600G>A	2.37:g.189917698C>T	ENSP00000364000:p.Gly867Glu						p.G867E	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		39	2874	-			867					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2600G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371237	0.82573	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.3	5.3	0.74995	.	0.000000	0.49916	D	0.000127	D	0.99775	0.9907	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	D	0.97205	0.9867	9	.	.	.	.	19.3175	0.94220	0.0:1.0:0.0:0.0	.	507;867	Q5PR22;P05997	.;CO5A2_HUMAN	E	867;507	ENSP00000364000:G867E	.	G	-	2	0	COL5A2	189625943	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.770000	0.85390	2.631000	0.89168	0.585000	0.79938	GGA		0.433	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		29	171	0	0	0	1	0	29	171				
EIF3D	8664	broad.mit.edu	37	22	36912757	36912757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36912757C>T	ENST00000216190.8	-	11	1441	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	EIF3D_ENST00000405442.1_Silent_p.A357A|EIF3D_ENST00000541106.1_Silent_p.A308A	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CCTACCGGTACGCAACAGAGG	0.507																																						ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(1069-1071)gcG>gcA		eukaryotic translation initiation factor 3, subunit D							212.0	192.0	199.0					22																	36912757		2203	4300	6503	SO:0001819	synonymous_variant	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36912757C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1071G>A	22.37:g.36912757C>T						EIF3D_ENST00000405442.1_Silent_p.A357A|EIF3D_ENST00000541106.1_Silent_p.A308A	p.A357A	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			11	1441	-			357						Silent	SNP	ENST00000216190.8	37	c.1071G>A	CCDS13930.1																																																																																				0.507	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			157	696	0	0	0	1	0	157	696				
ADAMTS12	81792	broad.mit.edu	37	5	33649745	33649745	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33649745C>T	ENST00000504830.1	-	8	1583	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	ADAMTS12_ENST00000352040.3_Silent_p.P416P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	416	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACATGATGTACGGATGTCTGC	0.557										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1246-1248)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							177.0	150.0	159.0					5																	33649745		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649745C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1248G>A	5.37:g.33649745C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P416P	p.P416P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			8	1583	-			416			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1248G>A	CCDS34140.1																																																																																				0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		50	298	0	0	0	1	0	50	298				
RTTN	25914	broad.mit.edu	37	18	67863822	67863822	+	Silent	SNP	C	C	T	rs183715905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67863822C>T	ENST00000255674.6	-	7	1042	c.756G>A	c.(754-756)tcG>tcA	p.S252S	RTTN_ENST00000437017.1_Silent_p.S252S|RTTN_ENST00000454359.1_Silent_p.S252S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	252					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGCAGGACACCGACTGTAATG	0.418													T|||	1	0.000199681	0.0	0.0	5008	,	,		18996	0.001		0.0	False		,,,				2504	0.0					ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(754-756)tcG>tcA		rotatin		T		1,3775		0,1,1887	83.0	81.0	82.0		756	-6.0	0.8	18		82	0,8244		0,0,4122	no	coding-synonymous	RTTN	NM_173630.3		0,1,6009	TT,TC,CC		0.0,0.0265,0.0083		252/2227	67863822	1,12019	1888	4122	6010	SO:0001819	synonymous_variant	25914						binding	g.chr18:67863822C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.756G>A	18.37:g.67863822C>T						RTTN_ENST00000454359.1_Silent_p.S252S|RTTN_ENST00000437017.1_Silent_p.S252S	p.S252S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			7	1042	-		Esophageal squamous(42;0.129)	252					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.756G>A	CCDS42443.1																																																																																				0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		45	262	0	0	0	1	0	45	262				
KCNIP3	30818	broad.mit.edu	37	2	96040138	96040138	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96040138G>A	ENST00000295225.5	+	3	411	c.276G>A	c.(274-276)gaG>gaA	p.E92E	KCNIP3_ENST00000468529.1_Silent_p.E66E|KCNIP3_ENST00000360990.3_Silent_p.E92E|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	92	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CCAAGAAGGAGCTGCAGTCTC	0.602																																						ENST00000295225.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(274-276)gaG>gaA		Kv channel interacting protein 3, calsenilin							87.0	85.0	85.0					2																	96040138		2203	4300	6503	SO:0001819	synonymous_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96040138G>A	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.276G>A	2.37:g.96040138G>A						KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.E66E|KCNIP3_ENST00000360990.3_Silent_p.E92E	p.E92E	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	3	411	+			92			EF-hand 1; degenerate.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	37	c.276G>A	CCDS2013.1																																																																																				0.602	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		61	240	0	0	0	1	0	61	240				
ACTA2	59	broad.mit.edu	37	10	90707143	90707143	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90707143C>A	ENST00000458208.1	-	3	604	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	ACTA2_ENST00000224784.6_Splice_Site_p.G44W|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	44					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACCATCACCCCCTAAAAAGGT	0.453																																						ENST00000458208.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.e3-1		actin, alpha 2, smooth muscle, aorta							210.0	182.0	192.0					10																	90707143		2203	4300	6503	SO:0001630	splice_region_variant	59				response to virus	cytosol	ATP binding	g.chr10:90707143C>A	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.130-1G>T	10.37:g.90707143C>A						STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Splice_Site_p.G44_splice|ACTA2_ENST00000480297.1_5'UTR	p.G44_splice	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	3	604	-		Colorectal(252;0.0161)	44					B2R8A4|P03996|P04108|Q6FI19	Splice_Site	SNP	ENST00000458208.1	37	c.129_splice	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671495	0.67814	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000415557;ENST00000458159	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.57	5.57	0.84162	.	0.129922	0.50627	D	0.000114	D	0.97278	0.9110	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.984	D	0.98512	1.0619	10	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	44;44	B7Z6I1;P62736	.;ACTA_HUMAN	W	44	ENSP00000224784:G44W;ENSP00000402373:G44W;ENSP00000396730:G44W;ENSP00000398239:G44W	ENSP00000224784:G44W	G	-	1	0	ACTA2	90697123	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.606000	0.88127	0.655000	0.94253	GGG		0.453	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	Missense_Mutation	12	515	1	0	1.5842e-08	1	1.65642e-08	12	515				
CSMD3	114788	broad.mit.edu	37	8	113348918	113348918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113348918G>T	ENST00000297405.5	-	44	7226	c.6982C>A	c.(6982-6984)Ctt>Att	p.L2328I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2328	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTTGAAGGACAGTAAAA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6982-6984)Ctt>Att		CUB and Sushi multiple domains 3							116.0	116.0	116.0					8																	113348918		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113348918G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6982C>A	8.37:g.113348918G>T	ENSP00000297405:p.Leu2328Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I	p.L2328I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			44	7226	-			2328			CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6982C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480405	0.63849	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.64	5.64	0.86602	CUB (5);	0.193950	0.34025	N	0.004330	T	0.40956	0.1138	L	0.39245	1.2	0.49213	D	0.999767	B;B;D	0.89917	0.145;0.02;1.0	B;B;D	0.91635	0.159;0.074;0.999	T	0.02893	-1.1097	10	0.49607	T	0.09	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2224;2328;2288	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2288;2328;1598;2224;2258	ENSP00000345799:L2288I;ENSP00000297405:L2328I;ENSP00000341558:L1598I;ENSP00000412263:L2224I;ENSP00000343124:L2258I	ENSP00000297405:L2328I	L	-	1	0	CSMD3	113418094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.937000	0.99478	0.650000	0.86243	CTT		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		93	438	1	0	4.81362e-53	1	5.99489e-53	93	438				
KIAA1161	57462	broad.mit.edu	37	9	34372078	34372078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34372078G>A	ENST00000297625.7	-	2	987	c.762C>T	c.(760-762)gaC>gaT	p.D254D		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	288					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGAGGTGACGTCTGAGCCCA	0.657																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(760-762)gaC>gaT		KIAA1161							33.0	37.0	36.0					9																	34372078		2143	4248	6391	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372078G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.762C>T	9.37:g.34372078G>A							p.D254D	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	987	-			288					Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.762C>T																																																																																					0.657	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		6	239	0	0	0	1	0	6	239				
TET1	80312	broad.mit.edu	37	10	70332731	70332731	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70332731G>T	ENST00000373644.4	+	2	845	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	212					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGCAGCTGAGATCCTTCCTG	0.478																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(634-636)gaG>gaT		tet methylcytosine dioxygenase 1							49.0	46.0	47.0					10																	70332731		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332731G>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.636G>T	10.37:g.70332731G>T	ENSP00000362748:p.Glu212Asp						p.E212D	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	845	+			212					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.636G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491651	0.26774	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.53	2.11	0.27256	.	1.368980	0.04955	N	0.461030	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.41680	-0.9495	10	0.22706	T	0.39	.	2.4407	0.04493	0.177:0.2657:0.4217:0.1356	.	212	Q8NFU7	TET1_HUMAN	D	212	ENSP00000362748:E212D	ENSP00000362748:E212D	E	+	3	2	TET1	70002737	0.000000	0.05858	0.018000	0.16275	0.547000	0.35210	0.145000	0.16157	0.643000	0.30638	0.563000	0.77884	GAG		0.478	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		64	257	1	0	1.87469e-40	1	2.27324e-40	64	257				
MRPL15	29088	broad.mit.edu	37	8	55060128	55060128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55060128T>C	ENST00000260102.4	+	5	814	c.740T>C	c.(739-741)aTc>aCc	p.I247T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	247					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTACCTGATATCACTAAAGAT	0.453																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(739-741)aTc>aCc		mitochondrial ribosomal protein L15							80.0	77.0	78.0					8																	55060128		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55060128T>C	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.740T>C	8.37:g.55060128T>C	ENSP00000260102:p.Ile247Thr						p.I247T	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		5	814	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	247					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.740T>C	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.216259	0.58452	.	.	ENSG00000137547	ENST00000260102	T	0.65916	-0.18	5.33	5.33	0.75918	.	0.042804	0.85682	D	0.000000	T	0.64681	0.2620	M	0.76002	2.32	0.80722	D	1	B	0.20164	0.042	B	0.20184	0.028	T	0.65393	-0.6179	10	0.72032	D	0.01	-17.4903	15.3195	0.74109	0.0:0.0:0.0:1.0	.	247	Q9P015	RM15_HUMAN	T	247	ENSP00000260102:I247T	ENSP00000260102:I247T	I	+	2	0	MRPL15	55222681	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	5.872000	0.69636	2.011000	0.59026	0.528000	0.53228	ATC		0.453	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		15	353	0	0	0	1	0	15	353				
MAPRE2	10982	broad.mit.edu	37	18	32681940	32681940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32681940C>T	ENST00000300249.5	+	4	607	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000436190.2_Missense_Mutation_p.R131C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	143	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGTGAAAGGACGTTTCCAGGA	0.398																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(391-393)Cgt>Tgt		microtubule-associated protein, RP/EB family, member 2							76.0	71.0	73.0					18																	32681940		2203	4300	6503	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32681940C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.427C>T	18.37:g.32681940C>T	ENSP00000300249:p.Arg143Cys					MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C|MAPRE2_ENST00000300249.5_Missense_Mutation_p.R143C|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C	p.R131C	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			5	665	+			143			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.391C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207572	0.58343	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.28	5.28	0.74379	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	M	0.93241	3.395	0.80722	D	1	P;B;B;B	0.39282	0.666;0.058;0.152;0.093	B;B;B;B	0.37989	0.262;0.01;0.059;0.142	T	0.69859	-0.5031	10	0.52906	T	0.07	-8.5856	13.814	0.63281	0.1533:0.8467:0.0:0.0	.	131;90;143;143	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	C	100;131;143;90	ENSP00000396074:R100C;ENSP00000407723:R131C;ENSP00000300249:R143C;ENSP00000446343:R90C	ENSP00000300249:R143C	R	+	1	0	MAPRE2	30935938	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.717000	0.61923	2.461000	0.83175	0.561000	0.74099	CGT		0.398	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		56	292	0	0	0	1	0	56	292				
LRP2	4036	broad.mit.edu	37	2	170038097	170038097	+	Missense_Mutation	SNP	C	C	T	rs137983840	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170038097C>T	ENST00000263816.3	-	52	10315	c.10030G>A	c.(10030-10032)Gca>Aca	p.A3344T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3344					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAATGTATGCGCGGTGACCC	0.483													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		18886	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(10030-10032)Gca>Aca		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	THR/ALA	23,4383	29.9+/-59.1	0,23,2180	151.0	123.0	132.0		10030	4.8	0.8	2	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRP2	NM_004525.2	58	0,24,6479	TT,TC,CC		0.0116,0.522,0.1845	probably-damaging	3344/4656	170038097	24,12982	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038097C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10030G>A	2.37:g.170038097C>T	ENSP00000263816:p.Ala3344Thr					LRP2_ENST00000461418.1_5'UTR	p.A3344T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	52	10315	-			3344					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.10030G>A	CCDS2232.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.25	3.341348	0.60963	0.00522	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.97811	-4.55	5.66	4.76	0.60689	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.170562	0.52532	D	0.000080	D	0.98327	0.9445	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	D	0.96079	0.9052	10	0.59425	D	0.04	.	16.2936	0.82761	0.0:0.7787:0.2213:0.0	.	3344	P98164	LRP2_HUMAN	T	3344;39	ENSP00000263816:A3344T	ENSP00000263816:A3344T	A	-	1	0	LRP2	169746343	0.991000	0.36638	0.788000	0.31933	0.219000	0.24729	2.604000	0.46274	2.661000	0.90470	0.655000	0.94253	GCA		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		73	211	0	0	0	1	0	73	211				
KIF26B	55083	broad.mit.edu	37	1	245849753	245849753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849753G>A	ENST00000407071.2	+	12	3908	c.3468G>A	c.(3466-3468)caG>caA	p.Q1156Q	KIF26B_ENST00000366518.4_Silent_p.Q775Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1156					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGATGAGCAGCAGGCAGCTA	0.577																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2323-2325)caG>caA		kinesin family member 26B							54.0	64.0	60.0					1																	245849753		2163	4247	6410	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849753G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3468G>A	1.37:g.245849753G>A						KIF26B_ENST00000407071.2_Silent_p.Q1156Q	p.Q775Q			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2429	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1156					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2325G>A	CCDS44342.1																																																																																				0.577	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		105	465	0	0	0	1	0	105	465				
AGBL1	123624	broad.mit.edu	37	15	86822881	86822881	+	Missense_Mutation	SNP	G	G	A	rs376573682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822881G>A	ENST00000441037.2	+	15	2044	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	650					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATCATTATCGCCAGAGTACA	0.507																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(1948-1950)cGc>cAc		ATP/GTP binding protein-like 1		G	HIS/ARG	1,4099		0,1,2049	94.0	96.0	95.0		1949	0.1	0.0	15		95	0,8384		0,0,4192	no	missense	AGBL1	NM_152336.2	29	0,1,6241	AA,AG,GG		0.0,0.0244,0.0080	benign	650/1067	86822881	1,12483	2050	4192	6242	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86822881G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1949G>A	15.37:g.86822881G>A	ENSP00000413001:p.Arg650His					AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H	p.R650H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			15	2044	+			650					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1949G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561146	0.27915	2.44E-4	0.0	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11277	2.8;2.79	5.3	0.0935	0.14477	.	0.605985	0.17360	N	0.177067	T	0.10121	0.0248	M	0.66939	2.045	0.09310	N	1	B;B;B	0.21147	0.052;0.052;0.01	B;B;B	0.15484	0.009;0.013;0.003	T	0.23904	-1.0175	10	0.42905	T	0.14	-0.9957	3.6769	0.08295	0.1411:0.3666:0.3668:0.1256	.	349;381;650	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	H	679;650;381	ENSP00000397173:R650H;ENSP00000373949:R381H	ENSP00000373949:R381H	R	+	2	0	AGBL1	84623885	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.615000	0.24329	-0.115000	0.11915	-0.140000	0.14226	CGC		0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		72	319	0	0	0	1	0	72	319				
EARS2	124454	broad.mit.edu	37	16	23555946	23555946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23555946G>A	ENST00000563459.1	-	3	380	c.374C>T	c.(373-375)gCc>gTc	p.A125V	EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000449606.1_Missense_Mutation_p.A125V|EARS2_ENST00000563232.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	125					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TGTGGCCTGGGCATACAGCTC	0.632																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(373-375)gCc>gTc		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						24.0	28.0	27.0					16																	23555946		1967	4150	6117	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23555946G>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.374C>T	16.37:g.23555946G>A	ENSP00000456467:p.Ala125Val					EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000563459.1_Missense_Mutation_p.A125V|EARS2_ENST00000563232.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron	p.A125V	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	3	405	-			125					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.374C>T	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522232	0.27211	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.22539	1.95	5.66	5.66	0.87406	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.684095	0.15332	N	0.267955	T	0.17492	0.0420	L	0.31526	0.94	0.29233	N	0.873174	P;B	0.45827	0.867;0.04	B;B	0.41860	0.368;0.166	T	0.07328	-1.0778	10	0.56958	D	0.05	-0.6922	9.9702	0.41749	0.0:0.1579:0.6978:0.1443	.	125;125	Q86YH3;Q5JPH6	.;SYEM_HUMAN	V	125	ENSP00000395196:A125V	ENSP00000343488:A125V	A	-	2	0	EARS2	23463447	0.000000	0.05858	0.991000	0.47740	0.096000	0.18686	0.438000	0.21559	2.673000	0.90976	0.561000	0.74099	GCC		0.632	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		9	107	0	0	0	1	0	9	107				
KIFC3	3801	broad.mit.edu	37	16	57794323	57794323	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57794323G>T	ENST00000379655.4	-	17	2495	c.2238C>A	c.(2236-2238)tcC>tcA	p.S746S	KIFC3_ENST00000421376.2_Silent_p.S607S|KIFC3_ENST00000543930.1_Silent_p.S604S|KIFC3_ENST00000445690.2_Silent_p.S746S|KIFC3_ENST00000541240.1_Silent_p.S768S|KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000540079.2_Silent_p.S644S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	746	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCTCCACGGGGGACACCTAGG	0.642																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2236-2238)tcC>tcA		kinesin family member C3							64.0	64.0	64.0					16																	57794323		2198	4300	6498	SO:0001819	synonymous_variant	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57794323G>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2238C>A	16.37:g.57794323G>T						KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000540079.2_Silent_p.S644S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000445690.2_Silent_p.S746S|KIFC3_ENST00000421376.2_Silent_p.S607S|KIFC3_ENST00000543930.1_Silent_p.S604S|KIFC3_ENST00000541240.1_Silent_p.S768S	p.S746S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			17	2495	-		all_neural(199;0.224)	746					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.2238C>A	CCDS10789.2																																																																																				0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		56	330	1	0	2.73361e-28	1	3.17826e-28	56	330				
ZFP91	80829	broad.mit.edu	37	11	58385162	58385162	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58385162G>T	ENST00000316059.6	+	11	1867	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	566					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				tGAAGATTCAGACTCTGCCGG	0.443																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1696-1698)Gac>Tac		ZFP91 zinc finger protein							85.0	90.0	88.0					11																	58385162		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58385162G>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1696G>T	11.37:g.58385162G>T	ENSP00000339030:p.Asp566Tyr					ZFP91-CNTF_ENST00000389919.4_Intron	p.D566Y	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			11	1867	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	566					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1696G>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837418	0.50951	.	.	ENSG00000186660	ENST00000316059	T	0.14893	2.47	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	T	0.32526	0.0832	L	0.29908	0.895	0.46701	D	0.999162	D	0.65815	0.995	D	0.68192	0.956	T	0.01643	-1.1305	10	0.87932	D	0	-20.1467	19.1254	0.93380	0.0:0.0:1.0:0.0	.	566	Q96JP5	ZFP91_HUMAN	Y	566	ENSP00000339030:D566Y	ENSP00000339030:D566Y	D	+	1	0	ZFP91	58141738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.826000	0.97356	0.655000	0.94253	GAC		0.443	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		22	546	1	0	1.36565e-18	1	1.51684e-18	22	546				
KIRREL3	84623	broad.mit.edu	37	11	126294626	126294626	+	Missense_Mutation	SNP	C	C	T	rs375680865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294626C>T	ENST00000525144.2	-	17	2435	c.2186G>A	c.(2185-2187)aGc>aAc	p.S729N	KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N|KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	729	Ser-rich.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTGACGCTGCTGTCACACTG	0.622																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(2185-2187)aGc>aAc		kin of IRRE like 3 (Drosophila)							106.0	114.0	111.0					11																	126294626		2190	4289	6479	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126294626C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2186G>A	11.37:g.126294626C>T	ENSP00000435466:p.Ser729Asn					KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N|KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N	p.S729N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	17	2435	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	729			Ser-rich.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.2186G>A	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736977	0.89482	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.46451	0.87;0.87;0.87	4.88	4.88	0.63580	.	0.048757	0.85682	D	0.000000	T	0.28896	0.0717	N	0.14661	0.345	0.54753	D	0.999985	B;B	0.33694	0.421;0.421	B;B	0.29785	0.107;0.107	T	0.17837	-1.0356	10	0.52906	T	0.07	-13.4121	17.8235	0.88657	0.0:1.0:0.0:0.0	.	717;729	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	N	729;717;196	ENSP00000435466:S729N;ENSP00000434081:S717N;ENSP00000408692:S196N	ENSP00000408692:S196N	S	-	2	0	KIRREL3	125799836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.277000	0.78572	2.543000	0.85770	0.655000	0.94253	AGC		0.622	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		36	374	0	0	0	1	0	36	374				
EPHB4	2050	broad.mit.edu	37	7	100404160	100404160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100404160G>A	ENST00000358173.3	-	14	2834	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P789L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATGGCCTCCGGGGCAGTCCA	0.577																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			1	Substitution - Missense(1)	p.P789L(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2365-2367)cCg>cTg		EPH receptor B4							113.0	100.0	105.0					7																	100404160		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404160G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2366C>T	7.37:g.100404160G>A	ENSP00000350896:p.Pro789Leu					EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			14	2834	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		789			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2366C>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562661	0.86335	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.89810	-2.57;-2.57	4.68	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000105	D	0.94676	0.8283	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95512	0.8587	10	0.87932	D	0	.	15.0759	0.72077	0.0:0.0:1.0:0.0	.	789;789	Q96L35;P54760	.;EPHB4_HUMAN	L	789	ENSP00000353833:P789L;ENSP00000350896:P789L	ENSP00000350896:P789L	P	-	2	0	EPHB4	100242096	1.000000	0.71417	0.983000	0.44433	0.692000	0.40212	9.869000	0.99810	2.139000	0.66308	0.455000	0.32223	CCG		0.577	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		74	399	0	0	0	1	0	74	399				
CTNNA1	1495	broad.mit.edu	37	5	138264950	138264950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138264950G>A	ENST00000302763.7	+	14	2005	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D639N|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	639					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGGAGTTGGATGACTCTGA	0.572																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1915-1917)Gat>Aat		catenin (cadherin-associated protein), alpha 1, 102kDa							112.0	114.0	113.0					5																	138264950		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138264950G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1915G>A	5.37:g.138264950G>A	ENSP00000304669:p.Asp639Asn					CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D639N	p.D639N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	2005	+			639					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1915G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265546	0.95399	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.65498	2.005	0.80722	D	1	P;P;B	0.36412	0.552;0.464;0.316	B;B;B	0.42087	0.274;0.375;0.245	T	0.35126	-0.9801	10	0.38643	T	0.18	-21.8087	19.3974	0.94612	0.0:0.0:1.0:0.0	.	639;516;639	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	N	536;639;639;624;639;269	ENSP00000347190:D536N;ENSP00000304669:D639N;ENSP00000427821:D639N;ENSP00000438476:D269N	ENSP00000304669:D639N	D	+	1	0	CTNNA1	138292849	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GAT		0.572	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		46	595	0	0	0	1	0	46	595				
TRIM41	90933	broad.mit.edu	37	5	180651776	180651776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180651776C>T	ENST00000315073.5	+	1	1487	c.777C>T	c.(775-777)agC>agT	p.S259S	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.S259S	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	259					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAGCACAGCGTGGTGCCAT	0.547																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(775-777)agC>agT		tripartite motif containing 41							77.0	68.0	71.0					5																	180651776		2203	4300	6503	SO:0001819	synonymous_variant	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651776C>T	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.777C>T	5.37:g.180651776C>T						CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.S259S	p.S259S	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1487	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	259					B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	c.777C>T	CCDS4466.1																																																																																				0.547	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		97	313	0	0	0	1	0	97	313				
SLC13A3	64849	broad.mit.edu	37	20	45217805	45217805	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45217805G>T	ENST00000279027.4	-	7	1028	c.1010C>A	c.(1009-1011)cCc>cAc	p.P337H	SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P290H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	337					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATACTTGATGGGCCCCAGGTT	0.527																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1009-1011)cCc>cAc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						95.0	99.0	97.0					20																	45217805		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45217805G>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1010C>A	20.37:g.45217805G>T	ENSP00000279027:p.Pro337His					SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H	p.P337H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			7	1028	-		Myeloproliferative disorder(115;0.0122)	337					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1010C>A	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566279	0.27915	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	T;T;T;T;T;T;T;T;T	0.13307	3.59;3.59;3.59;3.59;3.59;3.59;3.59;2.62;2.6	5.84	4.88	0.63580	.	0.091159	0.85682	N	0.000000	T	0.28566	0.0707	M	0.86502	2.82	0.80722	D	1	B;B;B;B	0.27351	0.014;0.006;0.122;0.176	B;B;B;B	0.35413	0.119;0.028;0.125;0.202	T	0.11842	-1.0571	10	0.87932	D	0	-30.0427	14.7177	0.69284	0.0:0.0:0.855:0.145	.	287;290;290;337	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	H	290;290;337;290;287;290;290;250;287	ENSP00000290317:P290H;ENSP00000379648:P290H;ENSP00000279027:P337H;ENSP00000420177:P290H;ENSP00000415852:P287H;ENSP00000419621:P290H;ENSP00000417784:P290H;ENSP00000395095:P250H;ENSP00000361193:P287H	ENSP00000279027:P337H	P	-	2	0	SLC13A3	44651212	1.000000	0.71417	0.946000	0.38457	0.189000	0.23516	5.637000	0.67854	1.457000	0.47850	0.650000	0.86243	CCC		0.527	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			11	502	1	0	3.86212e-05	1	3.93988e-05	11	502				
TMEM14B	81853	broad.mit.edu	37	6	10751401	10751401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10751401G>A	ENST00000379542.5	+	4	303	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	TMEM14B_ENST00000473276.1_Intron|SYCP2L_ENST00000543878.1_Intron|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000467317.1_Missense_Mutation_p.G46S|TMEM14B_ENST00000461342.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000379530.3_Intron	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	46						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GCTGCTCTTCGGCAGTCTAGC	0.542																																						ENST00000467317.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11						c.(136-138)Ggc>Agc		transmembrane protein 14B							130.0	114.0	120.0					6																	10751401		2202	4300	6502	SO:0001583	missense	81853					integral to membrane		g.chr6:10751401G>A	AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.136G>A	6.37:g.10751401G>A	ENSP00000368858:p.Gly46Ser					TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S|TMEM14B_ENST00000491103.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000379530.3_Intron|TMEM14B_ENST00000379542.5_Missense_Mutation_p.G46S|TMEM14B_ENST00000481240.1_Intron	p.G46S			Q9NUH8	TM14B_HUMAN			4	231	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	46					Q5THN7|Q5THN8|Q96IX7|Q9BVN8	Missense_Mutation	SNP	ENST00000379542.5	37	c.136G>A	CCDS4515.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625308	0.46840	.	.	ENSG00000137210	ENST00000472062;ENST00000379542;ENST00000475942;ENST00000467317	T;T;T	0.66815	-0.23;-0.23;-0.23	4.01	3.14	0.36123	.	0.103324	0.64402	D	0.000003	T	0.63474	0.2514	M	0.70275	2.135	0.80722	D	1	P	0.51791	0.948	P	0.52267	0.694	T	0.67229	-0.5723	10	0.52906	T	0.07	.	11.473	0.50280	0.0903:0.0:0.9097:0.0	.	46	Q9NUH8	TM14B_HUMAN	S	46	ENSP00000368858:G46S;ENSP00000418730:G46S;ENSP00000420658:G46S	ENSP00000368858:G46S	G	+	1	0	TMEM14B	10859387	1.000000	0.71417	0.040000	0.18447	0.008000	0.06430	7.238000	0.78173	1.037000	0.40024	0.484000	0.47621	GGC		0.542	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	NM_030969		10	450	0	0	0	1	0	10	450				
JPH3	57338	broad.mit.edu	37	16	87677922	87677922	+	Silent	SNP	C	C	T	rs140115944	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87677922C>T	ENST00000284262.2	+	2	683	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	147					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCCGGCAGAGCGTCCCGTATG	0.677																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(439-441)agC>agT		junctophilin 3		C		1,4395	2.1+/-5.4	0,1,2197	51.0	53.0	52.0		441	-4.0	0.9	16	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	JPH3	NM_020655.2		0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154		147/749	87677922	2,12990	2198	4298	6496	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87677922C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.441C>T	16.37:g.87677922C>T							p.S147S	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	683	+			147					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.441C>T	CCDS10962.1																																																																																				0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			179	478	0	0	0	1	0	179	478				
HIVEP3	59269	broad.mit.edu	37	1	41990569	41990569	+	Silent	SNP	G	G	A	rs200525352		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41990569G>A	ENST00000372583.1	-	6	6105	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000247584.5_Silent_p.N1740N|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000372584.1_Silent_p.N1740N	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1740					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATACTCTTCGTTTGATTTGT	0.488																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5218-5220)aaC>aaT		human immunodeficiency virus type I enhancer binding protein 3							94.0	87.0	89.0					1																	41990569		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990569G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5220C>T	1.37:g.41990569G>A						HIVEP3_ENST00000247584.5_Silent_p.N1740N|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000372583.1_Silent_p.N1740N	p.N1740N	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			5	6234	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1740					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.5220C>T	CCDS463.1																																																																																				0.488	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		38	269	0	0	0	1	0	38	269				
MACROD1	28992	broad.mit.edu	37	11	63884115	63884115	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884115C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.P126S	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CATCAACCTGCCCCGCTCCCT	0.607																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(376-378)Ccc>Tcc		fibronectin leucine rich transmembrane protein 1							52.0	51.0	52.0					11																	63884115		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884115C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34595G>A	11.37:g.63884115C>T						MACROD1_ENST00000255681.6_Intron	p.P126S	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1419	+			98					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.376C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119384	0.77323	.	.	ENSG00000126500	ENST00000246841	T	0.02787	4.16	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00341	-1.1804	10	0.62326	D	0.03	-40.3267	18.3184	0.90229	0.0:1.0:0.0:0.0	.	98	Q9NZU1	FLRT1_HUMAN	S	126	ENSP00000246841:P126S	ENSP00000246841:P126S	P	+	1	0	FLRT1	63640691	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.765000	0.85310	2.619000	0.88677	0.561000	0.74099	CCC		0.607	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		50	186	0	0	0	1	0	50	186				
CEP162	22832	broad.mit.edu	37	6	84870536	84870536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84870536G>A	ENST00000403245.3	-	21	2890	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATACTTGTCGCTCCAGATCC	0.373																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2776-2778)Cga>Tga		KIAA1009							159.0	154.0	156.0					6																	84870536		2202	4300	6502	SO:0001587	stop_gained	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84870536G>A																												ENST00000403245.3:c.2776C>T	6.37:g.84870536G>A	ENSP00000385215:p.Arg926*					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*	p.R926*	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	21	2890	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	926						Nonsense_Mutation	SNP	ENST00000403245.3	37	c.2776C>T	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	42	9.529168	0.99196	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.87	4.01	0.46588	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9369	14.7397	0.69445	0.0:0.0:0.7178:0.2822	.	.	.	.	X	850;926	.	ENSP00000257766:R850X	R	-	1	2	KIAA1009	84927255	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.088000	0.50175	0.735000	0.32537	0.655000	0.94253	CGA		0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			33	337	0	0	0	1	0	33	337				
MIEF2	125170	broad.mit.edu	37	17	18166031	18166031	+	5'UTR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18166031G>T	ENST00000323019.4	+	0	208				MIEF2_ENST00000577216.1_Intron|MIEF2_ENST00000395703.4_5'UTR|MIEF2_ENST00000395704.4_5'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.Q10H|MIEF2_ENST00000578621.1_5'UTR|MIEF2_ENST00000578174.1_5'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2						mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CTTACAGGCAGACCATGGCAG	0.642																																						ENST00000395706.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(28-30)caG>caT									35.0	32.0	33.0					17																	18166031		2201	4299	6500	SO:0001623	5_prime_UTR_variant	0					integral to membrane	protein binding	g.chr17:18166031G>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.-4G>T	17.37:g.18166031G>T						SMCR7_ENST00000395703.4_5'UTR|SMCR7_ENST00000578174.1_5'UTR|SMCR7_ENST00000578621.1_5'UTR|SMCR7_ENST00000323019.4_5'UTR|SMCR7_ENST00000577216.1_Intron|SMCR7_ENST00000395704.4_5'UTR	p.Q10H	NM_148886.1	NP_683684.2	Q96C03	SMCR7_HUMAN			2	56	+	all_neural(463;0.228)		0					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.30G>T	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225893	0.39300	.	.	ENSG00000177427	ENST00000395706	T	0.12465	2.68	4.01	0.81	0.18732	.	0.945316	0.08294	U	0.968007	T	0.16085	0.0387	.	.	.	0.23607	N	0.997303	.	.	.	.	.	.	T	0.36335	-0.9752	7	0.87932	D	0	.	6.9204	0.24385	0.1663:0.1431:0.6906:0.0	.	.	.	.	H	10	ENSP00000379057:Q10H	ENSP00000379057:Q10H	Q	+	3	2	SMCR7	18106756	0.000000	0.05858	0.239000	0.24122	0.915000	0.54546	0.184000	0.16939	-0.008000	0.14320	-0.258000	0.10820	CAG		0.642	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		37	134	1	0	8.73648e-17	1	9.61379e-17	37	134				
HOXB1	3211	broad.mit.edu	37	17	46607804	46607804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607804C>T	ENST00000239174.6	-	1	555	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	155					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAGCATAGGCCGGTGCAAAG	0.607																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(463-465)Gcc>Acc		homeobox B1							63.0	65.0	64.0					17																	46607804		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607804C>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.463G>A	17.37:g.46607804C>T	ENSP00000355140:p.Ala155Thr					HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	p.A155T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			1	555	-			155					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.463G>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165467	0.06461	.	.	ENSG00000120094	ENST00000239174	D	0.89746	-2.56	4.71	-2.41	0.06562	.	0.641465	0.13801	N	0.361835	T	0.67674	0.2918	N	0.05078	-0.115	0.21020	N	0.999808	B	0.02656	0.0	B	0.04013	0.001	T	0.56251	-0.8010	10	0.16896	T	0.51	.	2.011	0.03488	0.2046:0.4212:0.1006:0.2737	.	155	P14653	HXB1_HUMAN	T	155	ENSP00000355140:A155T	ENSP00000355140:A155T	A	-	1	0	HOXB1	43962803	0.001000	0.12720	0.792000	0.32020	0.769000	0.43574	-0.397000	0.07269	-0.017000	0.14103	-0.899000	0.02877	GCC		0.607	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			46	201	0	0	0	1	0	46	201				
HCN2	610	broad.mit.edu	37	19	603718	603718	+	Silent	SNP	C	C	T	rs143343881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:603718C>T	ENST00000251287.2	+	2	860	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	269					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGATCGAGGACAACA	0.557																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(805-807)atC>atT		hyperpolarization activated cyclic nucleotide-gated potassium channel 2		C		2,4398		0,2,2198	140.0	119.0	126.0		807	-3.1	1.0	19	dbSNP_134	126	1,8599		0,1,4299	no	coding-synonymous	HCN2	NM_001194.3		0,3,6497	TT,TC,CC		0.0116,0.0455,0.0231		269/890	603718	3,12997	2200	4300	6500	SO:0001819	synonymous_variant	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:603718C>T	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.807C>T	19.37:g.603718C>T							p.I269I	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	860	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	269					O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	c.807C>T	CCDS12035.1																																																																																				0.557	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		56	348	0	0	0	1	0	56	348				
MYO1F	4542	broad.mit.edu	37	19	8619390	8619390	+	Silent	SNP	G	G	A	rs201539438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8619390G>A	ENST00000338257.8	-	4	564	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	99	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCACAGTCGATAAGCATGT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19452	0.0		0.001	False		,,,				2504	0.0					ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(295-297)atC>atT		myosin IF							133.0	134.0	133.0					19																	8619390		2036	4180	6216	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8619390G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.297C>T	19.37:g.8619390G>A							p.I99I	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			4	564	-			99			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.297C>T	CCDS42494.1																																																																																				0.602	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			133	568	0	0	0	1	0	133	568				
SLC6A6	6533	broad.mit.edu	37	3	14518771	14518771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518771G>T	ENST00000454876.2	+	11	1597	c.1268G>T	c.(1267-1269)aGg>aTg	p.R423M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	423					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCCTTCCTAAGGAAGGGTTAT	0.532																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1267-1269)aGg>aTg		solute carrier family 6 (neurotransmitter transporter), member 6							197.0	161.0	173.0					3																	14518771		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14518771G>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1268G>T	3.37:g.14518771G>T	ENSP00000398063:p.Arg423Met					SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M	p.R423M			P31641	SC6A6_HUMAN			11	1597	+			423					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1268G>T	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325558	0.81580	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.76060	-0.99;-0.99	4.73	4.73	0.59995	.	0.132495	0.64402	D	0.000002	D	0.87313	0.6146	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89565	0.3809	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	423	P31641	SC6A6_HUMAN	M	423	ENSP00000398063:R423M;ENSP00000354107:R423M	ENSP00000354107:R423M	R	+	2	0	SLC6A6	14493775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.325000	0.78763	0.491000	0.48974	AGG		0.532	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		93	379	1	0	2.18907e-53	1	2.72816e-53	93	379				
NFIL3	4783	broad.mit.edu	37	9	94172259	94172259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94172259G>A	ENST00000297689.3	-	2	1152	c.758C>T	c.(757-759)tCt>tTt	p.S253F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	253					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGAGTACCCAGAGAAAGAATT	0.498																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(757-759)tCt>tTt		nuclear factor, interleukin 3 regulated							124.0	128.0	126.0					9																	94172259		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172259G>A	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.758C>T	9.37:g.94172259G>A	ENSP00000297689:p.Ser253Phe						p.S253F	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	1152	-			253					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.758C>T	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381410	0.24944	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	4.65	0.58169	Vertebrate interleukin-3 regulated transcription factor (1);	0.644741	0.14767	N	0.299652	T	0.37320	0.0999	L	0.47716	1.5	0.09310	N	1	P	0.42203	0.773	P	0.44518	0.452	T	0.13098	-1.0522	9	0.10636	T	0.68	-9.2061	9.8799	0.41227	0.0:0.139:0.6984:0.1626	.	253	Q16649	NFIL3_HUMAN	F	253	.	ENSP00000297689:S253F	S	-	2	0	NFIL3	93212080	0.794000	0.28838	0.005000	0.12908	0.093000	0.18481	4.517000	0.60503	2.429000	0.82318	0.561000	0.74099	TCT		0.498	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		112	452	0	0	0	1	0	112	452				
STAT6	6778	broad.mit.edu	37	12	57499295	57499295	+	Silent	SNP	C	C	T	rs559027154		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499295C>T	ENST00000300134.3	-	8	1093	c.768G>A	c.(766-768)tcG>tcA	p.S256S	STAT6_ENST00000538913.2_Silent_p.S146S|STAT6_ENST00000454075.3_Silent_p.S256S|STAT6_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000543873.2_Silent_p.S256S|STAT6_ENST00000556155.1_Silent_p.S256S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	256					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCCAGTCAGCGATGCCCGGG	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16429	0.0		0.0	False		,,,				2504	0.0					ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(766-768)tcG>tcA		signal transducer and activator of transcription 6, interleukin-4 induced							48.0	52.0	51.0					12																	57499295		2203	4300	6503	SO:0001819	synonymous_variant	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499295C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.768G>A	12.37:g.57499295C>T						STAT6_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000538913.2_Silent_p.S146S|STAT6_ENST00000543873.2_Silent_p.S256S|STAT6_ENST00000556155.1_Silent_p.S256S|STAT6_ENST00000454075.3_Silent_p.S256S	p.S256S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			8	1093	-			256					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Silent	SNP	ENST00000300134.3	37	c.768G>A	CCDS8931.1																																																																																				0.612	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		38	164	0	0	0	1	0	38	164				
KIF22	3835	broad.mit.edu	37	16	29810350	29810350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29810350C>T	ENST00000160827.4	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000561482.1_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	202	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGACTGCCGGGGGAATAT	0.547																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(400-402)Cgg>Tgg		kinesin family member 22							92.0	99.0	97.0					16																	29810350		2197	4296	6493	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810350C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.604C>T	16.37:g.29810350C>T	ENSP00000160827:p.Arg202Trp					KIF22_ENST00000160827.4_Missense_Mutation_p.R202W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W	p.R134W	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			5	1037	+			202			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.400C>T	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757538	0.49468	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75589	-0.95;-0.95	5.95	2.57	0.30868	Kinesin, motor domain (4);	.	.	.	.	T	0.63165	0.2488	L	0.51914	1.62	0.80722	D	1	B;B	0.19706	0.007;0.038	B;B	0.17098	0.017;0.006	T	0.64084	-0.6490	9	0.56958	D	0.05	.	3.4282	0.07418	0.1625:0.4507:0.295:0.0918	.	134;202	B7Z265;Q14807	.;KIF22_HUMAN	W	202;134	ENSP00000160827:R202W;ENSP00000383562:R134W	ENSP00000160827:R202W	R	+	1	2	KIF22	29717851	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	2.876000	0.48498	1.496000	0.48567	0.655000	0.94253	CGG		0.547	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			96	610	0	0	0	1	0	96	610				
FPGT	8790	broad.mit.edu	37	1	74665359	74665359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74665359G>A	ENST00000609362.1	+	2	131	c.94G>A	c.(94-96)Gca>Aca	p.A32T	FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000524915.1_3'UTR|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.A32T|FPGT_ENST00000467578.2_Missense_Mutation_p.A45T|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A45T|FPGT_ENST00000534056.1_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A32T|FPGT_ENST00000370894.5_Missense_Mutation_p.A32T|FPGT_ENST00000370898.3_Missense_Mutation_p.A45T|LRRIQ3_ENST00000370911.3_5'Flank|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000482102.2_Missense_Mutation_p.A54T|LRRIQ3_ENST00000354431.4_5'Flank|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A32T	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	32					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CAAACTTGTAGCACGTGGAGA	0.373																																						ENST00000370895.1																			0											c.(94-96)Gca>Aca									91.0	91.0	91.0					1																	74665359		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74665359G>A	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.94G>A	1.37:g.74665359G>A	ENSP00000476680:p.Ala32Thr					FPGT_ENST00000370898.2_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A32T|FPGT_ENST00000534056.1_Missense_Mutation_p.A32T|FPGT_ENST00000370894.4_Missense_Mutation_p.A32T|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A32T|TNNI3K_ENST00000370893.1_Missense_Mutation_p.A32T|FPGT_ENST00000482102.2_Missense_Mutation_p.A54T|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A32T|FPGT_ENST00000524915.1_Missense_Mutation_p.A32T|FPGT_ENST00000467578.2_Missense_Mutation_p.A32T	p.A32T			Q59H18	TNI3K_HUMAN			2	129	+			0					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.94G>A	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151391	0.38021	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000472069;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.74421	1.59;1.02;-0.84;-0.55;-0.83;-0.83	4.9	0.643	0.17770	.	0.394219	0.23500	N	0.047517	T	0.30135	0.0755	L	0.29908	0.895	0.19300	N	0.99998	P;B;B;B;B;B	0.39094	0.659;0.007;0.001;0.002;0.355;0.031	B;B;B;B;B;B	0.28709	0.093;0.003;0.001;0.003;0.069;0.009	T	0.15809	-1.0424	10	0.48119	T	0.1	.	1.8757	0.03217	0.1882:0.3144:0.3613:0.1361	.	32;32;32;32;32;32	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	T	32;32;54;32;32;32;30;32;32;32;32;32;32	ENSP00000359935:A32T;ENSP00000432819:A32T;ENSP00000359936:A32T;ENSP00000359932:A32T;ENSP00000450895:A32T;ENSP00000359928:A32T	ENSP00000359928:A32T	A	+	1	0	RP11-653A5.2;TNNI3K;AC093158.1	74437947	0.993000	0.37304	0.982000	0.44146	0.080000	0.17528	1.523000	0.35932	0.572000	0.29383	-0.291000	0.09656	GCA		0.373	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				67	253	0	0	0	1	0	67	253				
MAP10	54627	broad.mit.edu	37	1	232941505	232941505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232941505C>A	ENST00000418460.1	+	1	863	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	104					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										GCCTGCTACCCTGCACTGCCG	0.741																																						ENST00000418460.1																			0											c.(736-738)Ctg>Atg		microtubule-associated protein 10							9.0	12.0	11.0					1																	232941505		1947	4085	6032	SO:0001583	missense	54627							g.chr1:232941505C>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.736C>A	1.37:g.232941505C>A	ENSP00000403208:p.Leu246Met						p.L246M	NM_019090.2	NP_061963.2					1	863	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.736C>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185019	0.78677	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	1.23	0.21249	.	0.000000	0.43747	U	0.000525	T	0.65354	0.2683	M	0.77103	2.36	0.34111	D	0.663038	D	0.71674	0.998	D	0.65443	0.935	T	0.70868	-0.4755	9	0.87932	D	0	-7.3523	6.5493	0.22425	0.1271:0.6683:0.0:0.2046	.	104	Q9P2G4	K1383_HUMAN	M	246	.	ENSP00000403208:L246M	L	+	1	2	KIAA1383	231008128	0.026000	0.19158	0.024000	0.17045	0.931000	0.56810	0.651000	0.24873	0.033000	0.15463	0.555000	0.69702	CTG		0.741	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		23	119	1	0	2.27525e-19	1	2.53767e-19	23	119				
ICAM2	3384	broad.mit.edu	37	17	62080179	62080179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62080179C>T	ENST00000412356.1	-	6	1110	c.756G>A	c.(754-756)ttG>ttA	p.L252L	ICAM2_ENST00000579687.1_Silent_p.L252L|ICAM2_ENST00000449662.2_Silent_p.L252L|ICAM2_ENST00000581417.1_5'UTR|C17orf72_ENST00000412177.1_3'UTR|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000418105.1_Silent_p.L252L|ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000579788.1_Silent_p.L252L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	252					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GCTGCTGGCGCAAGTGCTGGC	0.622																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(754-756)ttG>ttA		intercellular adhesion molecule 2							83.0	62.0	69.0					17																	62080179		2203	4300	6503	SO:0001819	synonymous_variant	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62080179C>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.756G>A	17.37:g.62080179C>T						ICAM2_ENST00000579687.1_Silent_p.L252L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000418105.1_Silent_p.L252L|ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000579788.1_Silent_p.L252L|ICAM2_ENST00000449662.2_Silent_p.L252L	p.L252L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			6	1110	-			252					Q14600	Silent	SNP	ENST00000412356.1	37	c.756G>A	CCDS11657.1																																																																																				0.622	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			30	148	0	0	0	1	0	30	148				
HERC1	8925	broad.mit.edu	37	15	63916522	63916522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63916522C>T	ENST00000443617.2	-	72	13367	c.13280G>A	c.(13279-13281)aGc>aAc	p.S4427N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4427					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGGGATGTGCTGTTCTGTAA	0.423																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13279-13281)aGc>aAc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							124.0	113.0	116.0					15																	63916522		1886	4126	6012	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63916522C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13280G>A	15.37:g.63916522C>T	ENSP00000390158:p.Ser4427Asn						p.S4427N	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			72	13367	-			4427					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13280G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614439	0.66672	.	.	ENSG00000103657	ENST00000443617	T	0.25085	1.82	5.3	5.3	0.74995	.	0.056069	0.64402	U	0.000003	T	0.20941	0.0504	N	0.22421	0.69	0.45762	D	0.998653	B	0.06786	0.001	B	0.04013	0.001	T	0.03095	-1.1073	10	0.30078	T	0.28	.	19.3238	0.94253	0.0:1.0:0.0:0.0	.	4427	Q15751	HERC1_HUMAN	N	4427	ENSP00000390158:S4427N	ENSP00000390158:S4427N	S	-	2	0	HERC1	61703575	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.797000	0.69087	2.614000	0.88457	0.655000	0.94253	AGC		0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		62	331	0	0	0	1	0	62	331				
B4GALNT4	338707	broad.mit.edu	37	11	373496	373496	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373496C>A	ENST00000329962.6	+	7	684	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	228					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCAGCTCCCAGGTGTCCA	0.622																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(682-684)tcC>tcA		beta-1,4-N-acetyl-galactosaminyl transferase 4							84.0	87.0	86.0					11																	373496		2197	4297	6494	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373496C>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.684C>A	11.37:g.373496C>A							p.S228S	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	684	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	228					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.684C>A	CCDS7694.1																																																																																				0.622	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		60	423	1	0	4.13886e-29	1	4.83036e-29	60	423				
RECK	8434	broad.mit.edu	37	9	36102199	36102199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36102199G>T	ENST00000377966.3	+	12	1973	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	469					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGATCTGAAGAATTGTATAC	0.343																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(1405-1407)aaG>aaT		reversion-inducing-cysteine-rich protein with kazal motifs							133.0	137.0	135.0					9																	36102199		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36102199G>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1407G>T	9.37:g.36102199G>T	ENSP00000367202:p.Lys469Asn						p.K469N	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		12	1973	+			469					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.1407G>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468555	0.26335	.	.	ENSG00000122707	ENST00000377966	T	0.44083	0.93	5.46	1.39	0.22231	.	0.168614	0.51477	D	0.000085	T	0.19485	0.0468	N	0.08118	0	0.27323	N	0.956981	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	10	0.29301	T	0.29	-12.8255	8.0352	0.30488	0.4452:0.0:0.5548:0.0	.	469;469	A8K9D8;O95980	.;RECK_HUMAN	N	469	ENSP00000367202:K469N	ENSP00000367202:K469N	K	+	3	2	RECK	36092199	0.997000	0.39634	0.687000	0.30102	0.994000	0.84299	0.863000	0.27913	0.058000	0.16222	0.655000	0.94253	AAG		0.343	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			54	338	1	0	1.13148e-14	1	1.23148e-14	54	338				
CSMD3	114788	broad.mit.edu	37	8	114186024	114186024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114186024G>A	ENST00000297405.5	-	4	880	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000352409.3_Silent_p.G212G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	212	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTGAGGGTGGCCATCAAGGA	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(634-636)ggC>ggT		CUB and Sushi multiple domains 3							140.0	128.0	132.0					8																	114186024		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114186024G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.636C>T	8.37:g.114186024G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000352409.3_Silent_p.G212G	p.G212G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			4	880	-			212			Sushi 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.636C>T	CCDS6315.1																																																																																				0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		113	456	0	0	0	1	0	113	456				
ZC3HAV1	56829	broad.mit.edu	37	7	138749734	138749734	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138749734C>T	ENST00000242351.5	-	8	2200	c.1884G>A	c.(1882-1884)cgG>cgA	p.R628R	ZC3HAV1_ENST00000471652.1_Silent_p.R628R|ZC3HAV1_ENST00000464606.1_Silent_p.R750R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	628	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAATTTTTCCGTTTGTCTT	0.408																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1882-1884)cgG>cgA		zinc finger CCCH-type, antiviral 1							91.0	90.0	90.0					7																	138749734		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138749734C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1884G>A	7.37:g.138749734C>T						ZC3HAV1_ENST00000464606.1_Silent_p.R750R|ZC3HAV1_ENST00000471652.1_Silent_p.R628R	p.R628R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			8	2200	-			628			WWE.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.1884G>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	2.838	-0.241096	0.05906	.	.	ENSG00000105939	ENST00000460845	.	.	.	4.32	1.45	0.22620	.	.	.	.	.	T	0.24547	0.0595	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	4.121	0.10106	0.1632:0.5872:0.158:0.0916	.	.	.	.	K	193	.	.	E	-	1	0	ZC3HAV1	138400274	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.013000	0.13310	0.189000	0.20188	0.644000	0.83932	GAA		0.408	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		54	251	0	0	0	1	0	54	251				
PCSK1	5122	broad.mit.edu	37	5	95728750	95728750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95728750G>A	ENST00000311106.3	-	14	2454	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	PCSK1_ENST00000508626.1_Silent_p.D692D|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	739					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAAGCAGCCGGTCGTCTCTGT	0.403																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2215-2217)gaC>gaT		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						163.0	170.0	167.0					5																	95728750		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728750G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2217C>T	5.37:g.95728750G>A						CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.D692D|PCSK1_ENST00000513085.1_5'UTR	p.D739D	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2454	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	739			Amphipathic (Potential).		B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.2217C>T	CCDS4081.1																																																																																				0.403	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		256	1074	0	0	0	1	0	256	1074				
OBSCN	84033	broad.mit.edu	37	1	228462512	228462512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228462512G>A	ENST00000422127.1	+	20	5967	c.5923G>A	c.(5923-5925)Gcc>Acc	p.A1975T	OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2350T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1975	Ig-like 19.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGAGGGCGCCTCATCCTC	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7048-7050)Gcc>Acc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							24.0	29.0	28.0					1																	228462512		2125	4242	6367	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462512G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5923G>A	1.37:g.228462512G>A	ENSP00000409493:p.Ala1975Thr					OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1975T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	p.A2350T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			24	7122	+		Prostate(94;0.0405)	1335			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7048G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105255	0.20632	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.455816	0.21586	N	0.072167	T	0.54191	0.1843	L	0.37561	1.115	0.18873	N	0.999987	D;D	0.63880	0.958;0.993	B;B	0.44044	0.353;0.439	T	0.43556	-0.9384	10	0.14252	T	0.57	.	10.1739	0.42927	0.1597:0.0:0.8403:0.0	.	1975;1975	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1975;1975;822	ENSP00000284548:A1975T;ENSP00000409493:A1975T;ENSP00000352613:A822T	ENSP00000284548:A1975T	A	+	1	0	OBSCN	226529135	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.508000	0.22692	1.213000	0.43380	0.555000	0.69702	GCC		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	66	0	0	0	1	0	20	66				
DCHS2	54798	broad.mit.edu	37	4	155157313	155157313	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157313T>G	ENST00000357232.4	-	25	7125	c.7126A>C	c.(7126-7128)Aca>Cca	p.T2376P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2376	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATATCCCCTGTCAAAGGGTCA	0.418																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7126-7128)Aca>Cca		dachsous cadherin-related 2							97.0	89.0	92.0					4																	155157313		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157313T>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7126A>C	4.37:g.155157313T>G	ENSP00000349768:p.Thr2376Pro						p.T2376P	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7125	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2376			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7126A>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244831	0.59103	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.6	4.41	0.53225	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.81029	0.4738	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85767	0.1353	10	0.59425	D	0.04	.	12.3787	0.55295	0.1262:0.0:0.0:0.8737	.	2376	Q6V1P9	PCD23_HUMAN	P	2376	ENSP00000349768:T2376P	ENSP00000349768:T2376P	T	-	1	0	DCHS2	155376763	1.000000	0.71417	0.418000	0.26571	0.755000	0.42902	4.059000	0.57470	1.038000	0.40049	0.460000	0.39030	ACA		0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		51	451	0	0	0	1	0	51	451				
ADAMTS20	80070	broad.mit.edu	37	12	43886389	43886389	+	Missense_Mutation	SNP	T	T	G	rs375762593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43886389T>G	ENST00000389420.3	-	6	994	c.995A>C	c.(994-996)aAc>aCc	p.N332T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	332	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAACAAAAGTTCTTTAATGT	0.363																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(994-996)aAc>aCc		ADAM metallopeptidase with thrombospondin type 1 motif, 20		T	THR/ASN	0,4406		0,0,2203	176.0	142.0	153.0		995	3.7	0.9	12		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS20	NM_025003.3	65	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging	332/1911	43886389	1,13005	2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43886389T>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.995A>C	12.37:g.43886389T>G	ENSP00000374071:p.Asn332Thr					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	p.N332T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	6	994	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	332			Peptidase M12B.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.995A>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588289	0.46110	0.0	1.16E-4	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.87179	-2.22;-2.22	4.79	3.65	0.41850	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000058	D	0.92031	0.7475	M	0.88775	2.98	0.80722	D	1	D	0.53885	0.963	P	0.56216	0.794	D	0.92147	0.5725	10	0.72032	D	0.01	.	10.5595	0.45138	0.0:0.0772:0.0:0.9228	.	332	P59510	ATS20_HUMAN	T	332	ENSP00000374071:N332T;ENSP00000448341:N332T	ENSP00000374068:N332T	N	-	2	0	ADAMTS20	42172656	1.000000	0.71417	0.922000	0.36590	0.027000	0.11550	4.622000	0.61240	0.940000	0.37473	0.455000	0.32223	AAC		0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		29	135	0	0	0	1	0	29	135				
RYR2	6262	broad.mit.edu	37	1	237780719	237780719	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237780719C>T	ENST00000366574.2	+	38	6166	c.5849C>T	c.(5848-5850)gCc>gTc	p.A1950V	RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1950	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCATGCAAGCCTTAAACATG	0.428																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5848-5850)gCc>gTc		ryanodine receptor 2 (cardiac)							103.0	97.0	99.0					1																	237780719		2013	4200	6213	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780719C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5849C>T	1.37:g.237780719C>T	ENSP00000355533:p.Ala1950Val					RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V	p.A1950V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	6166	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1950			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5849C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306871	0.95629	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74002	-0.8;-0.8;-0.8	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	D	0.85539	0.5720	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.86757	0.1964	10	0.87932	D	0	.	19.1627	0.93541	0.0:1.0:0.0:0.0	.	1950	Q92736	RYR2_HUMAN	V	1950;1948;1934	ENSP00000355533:A1950V;ENSP00000353174:A1948V;ENSP00000443798:A1934V	ENSP00000353174:A1948V	A	+	2	0	RYR2	235847342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.517000	0.84864	0.650000	0.86243	GCC		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		57	247	0	0	0	1	0	57	247				
ACACB	32	broad.mit.edu	37	12	109605787	109605787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109605787G>A	ENST00000338432.7	+	4	992	c.873G>A	c.(871-873)cgG>cgA	p.R291R	ACACB_ENST00000377854.5_Silent_p.R291R|ACACB_ENST00000377848.3_Silent_p.R291R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	291	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCAACGAGCGGGCCATCCGGT	0.602																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(871-873)cgG>cgA		acetyl-CoA carboxylase beta	Biotin(DB00121)						158.0	100.0	120.0					12																	109605787		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109605787G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.873G>A	12.37:g.109605787G>A						ACACB_ENST00000377848.3_Silent_p.R291R|ACACB_ENST00000377854.5_Silent_p.R291R	p.R291R			O00763	ACACB_HUMAN			4	992	+			291			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.873G>A	CCDS31898.1																																																																																				0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		53	258	0	0	0	1	0	53	258				
TRPM3	80036	broad.mit.edu	37	9	73426137	73426137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73426137C>T	ENST00000396292.4	-	5	537	c.538G>A	c.(538-540)Gac>Aac	p.D180N	TRPM3_ENST00000361823.5_Intron|MIR204_ENST00000385200.1_RNA|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.D180N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	333					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGCGGGAGTCAAGAGAGAAA	0.353																																						ENST00000377106.1																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(538-540)Gac>Aac		transient receptor potential cation channel, subfamily M, member 3							60.0	63.0	62.0					9																	73426137		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73426137C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000396292.4:c.538G>A	9.37:g.73426137C>T	ENSP00000379587:p.Asp180Asn					TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.D180N|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N	p.D180N	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN			7	892	-			333					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000396292.4	37	c.538G>A	CCDS6635.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879218	0.33162	.	.	ENSG00000083067	ENST00000377106;ENST00000360823;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000396283	T;T;T;T;T;T	0.66460	0.56;0.55;0.56;0.55;0.6;-0.21	4.79	4.79	0.61399	.	.	.	.	.	T	0.48995	0.1531	N	0.08118	0	0.80722	D	1	B	0.24258	0.1	B	0.28139	0.086	T	0.50311	-0.8843	9	0.56958	D	0.05	.	13.6483	0.62294	0.0:1.0:0.0:0.0	.	180	A2A3F4	.	N	180;180;180;180;335;180	ENSP00000366310:D180N;ENSP00000354066:D180N;ENSP00000379587:D180N;ENSP00000350791:D180N;ENSP00000389542:D335N;ENSP00000379579:D180N	ENSP00000350791:D180N	D	-	1	0	TRPM3	72615957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.987000	0.49378	2.941000	0.99782	0.655000	0.94253	GAC		0.353	TRPM3-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214161.2	NM_206945		10	91	0	0	0	1	0	10	91				
ARHGDIG	398	broad.mit.edu	37	16	331765	331765	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:331765G>A	ENST00000219409.3	+	2	168	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	31					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTGACAAGGAGGGTGGGCCGC	0.701																																						ENST00000219409.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)	3						c.(91-93)gaG>gaA		Rho GDP dissociation inhibitor (GDI) gamma							8.0	9.0	9.0					16																	331765		2130	4224	6354	SO:0001819	synonymous_variant	398				negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr16:331765G>A	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"""RhoGDI gamma"""	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.93G>A	16.37:g.331765G>A							p.E31E	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN			2	168	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	31					Q4TT69|Q96S29	Silent	SNP	ENST00000219409.3	37	c.93G>A	CCDS10404.1																																																																																				0.701	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			18	79	0	0	0	1	0	18	79				
RAI14	26064	broad.mit.edu	37	5	34823310	34823310	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34823310C>A	ENST00000265109.3	+	15	1650	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000512629.1_Missense_Mutation_p.L426I|RAI14_ENST00000506376.1_Missense_Mutation_p.L447I|RAI14_ENST00000428746.2_Missense_Mutation_p.L455I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I|RAI14_ENST00000515799.1_Missense_Mutation_p.L458I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	455						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAGAAAACAGCTACAGGTCGA	0.423																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1363-1365)Cta>Ata		retinoic acid induced 14							78.0	88.0	85.0					5																	34823310		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823310C>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1363C>A	5.37:g.34823310C>A	ENSP00000265109:p.Leu455Ile					RAI14_ENST00000506376.1_Missense_Mutation_p.L447I|RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000428746.2_Missense_Mutation_p.L455I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I|RAI14_ENST00000515799.1_Missense_Mutation_p.L458I|RAI14_ENST00000512629.1_Missense_Mutation_p.L426I	p.L455I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	1650	+	all_lung(31;0.000191)		455					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1363C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939302	0.34189	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.44	3.4	0.38934	.	.	.	.	.	T	0.20373	0.0490	L	0.34521	1.04	0.42043	D	0.991085	P;D;D;D	0.58970	0.879;0.966;0.984;0.966	B;B;P;B	0.47827	0.36;0.284;0.558;0.184	T	0.05937	-1.0855	9	0.56958	D	0.05	-9.4135	2.818	0.05463	0.0:0.3753:0.2344:0.3903	.	447;426;458;455	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	455;426;455;455;458;447;448	ENSP00000265109:L455I;ENSP00000422377:L426I;ENSP00000388725:L455I;ENSP00000422942:L455I;ENSP00000427123:L458I;ENSP00000423854:L447I;ENSP00000380591:L448I	ENSP00000265109:L455I	L	+	1	2	RAI14	34859067	0.947000	0.32204	0.997000	0.53966	0.477000	0.33069	1.743000	0.38258	1.305000	0.44909	-0.266000	0.10368	CTA		0.423	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		9	378	1	0	1.12685e-05	1	1.15515e-05	9	378				
CDIPT	10423	broad.mit.edu	37	16	29874153	29874153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29874153A>C	ENST00000219789.6	-	1	904	c.26T>G	c.(25-27)tTc>tGc	p.F9C	CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT_ENST00000561555.1_5'Flank|CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT_ENST00000566113.1_Missense_Mutation_p.F9C	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	9					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						GTTGGGCACGAACAGGAAGAT	0.697																																						ENST00000219789.6																			0				endometrium(1)|lung(3)	4						c.(25-27)tTc>tGc		CDP-diacylglycerol--inositol 3-phosphatidyltransferase							101.0	103.0	102.0					16																	29874153		2197	4300	6497	SO:0001583	missense	10423					endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	g.chr16:29874153A>C	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"""phosphatidylinositol synthase"""	605893	"""CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"""			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.26T>G	16.37:g.29874153A>C	ENSP00000219789:p.Phe9Cys					CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT_ENST00000566113.1_Missense_Mutation_p.F9C	p.F9C	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN			1	904	-			9					B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	37	c.26T>G	CCDS10657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512933|3.512933	0.64522|0.64522	.|.	.|.	ENSG00000103502|ENSG00000103502	ENST00000219789|ENST00000403894	T|.	0.48201|.	0.82|.	5.24|5.24	4.13|4.13	0.48395|0.48395	.|.	0.049082|.	0.85682|.	N|.	0.000000|.	T|T	0.75079|0.75079	0.3801|0.3801	M|M	0.85099|0.85099	2.735|2.735	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.997|.	T|T	0.75513|0.75513	-0.3291|-0.3291	10|6	0.87932|0.46703	D|T	0|0.11	-14.366|-14.366	10.7309|10.7309	0.46096|0.46096	0.8398:0.1602:0.0:0.0|0.8398:0.1602:0.0:0.0	.|.	9;9|.	B4DUV0;O14735|.	.;CDIPT_HUMAN|.	C|A	9|31	ENSP00000219789:F9C|.	ENSP00000219789:F9C|ENSP00000386065:S31A	F|S	-|-	2|1	0|0	CDIPT|CDIPT	29781654|29781654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.554000|0.554000	0.35429|0.35429	5.039000|5.039000	0.64185|0.64185	0.914000|0.914000	0.36822|0.36822	-0.466000|-0.466000	0.05196|0.05196	TTC|TCG		0.697	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		158	784	0	0	0	1	0	158	784				
SHROOM3	57619	broad.mit.edu	37	4	77675851	77675851	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675851C>T	ENST00000296043.6	+	7	5168	c.4215C>T	c.(4213-4215)ggC>ggT	p.G1405G	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1405					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGTGAGGGCGATGGCCCAG	0.637																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4213-4215)ggC>ggT		shroom family member 3							51.0	42.0	45.0					4																	77675851		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675851C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4215C>T	4.37:g.77675851C>T							p.G1405G	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5168	+			1405					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.4215C>T	CCDS3579.2																																																																																				0.637	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		36	172	0	0	0	1	0	36	172				
PRPF8	10594	broad.mit.edu	37	17	1576444	1576444	+	Silent	SNP	C	C	T	rs201906457		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1576444C>T	ENST00000572621.1	-	23	3970	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	PRPF8_ENST00000304992.6_Silent_p.E1235E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1235	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTGCATTGACTCATCGTCCA	0.542																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3703-3705)gaG>gaA		pre-mRNA processing factor 8							163.0	124.0	137.0					17																	1576444		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1576444C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3705G>A	17.37:g.1576444C>T						PRPF8_ENST00000304992.6_Silent_p.E1235E	p.E1235E			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	23	3970	-			1235					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.3705G>A	CCDS11010.1																																																																																				0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			13	335	0	0	0	1	0	13	335				
EEF1G	1937	broad.mit.edu	37	11	62327638	62327638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62327638C>A	ENST00000329251.4	-	9	1188	c.1058G>T	c.(1057-1059)aGg>aTg	p.R353M	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.R403M	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	353	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCATTCTTCCTCAGCTTGTC	0.517																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1207-1209)aGg>aTg		eukaryotic translation elongation factor 1 gamma							49.0	47.0	48.0					11																	62327638		1952	4156	6108	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62327638C>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1058G>T	11.37:g.62327638C>A	ENSP00000331901:p.Arg353Met					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.R353M	p.R403M			P26641	EF1G_HUMAN			9	1298	-			353			EF-1-gamma C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.1208G>T	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461627	0.84425	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.29142	1.62;1.58	4.67	4.67	0.58626	Translation elongation factor EF1B, gamma chain, conserved (4);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	H	0.95645	3.7	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.987;0.993	D;D;D	0.73708	0.981;0.961;0.979	T	0.77890	-0.2419	10	0.87932	D	0	.	15.1667	0.72833	0.0:1.0:0.0:0.0	.	403;122;353	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	M	353;403;122	ENSP00000331901:R353M;ENSP00000367258:R403M	ENSP00000331901:R353M	R	-	2	0	EEF1G	62084214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.367000	0.79558	2.456000	0.83038	0.537000	0.68136	AGG		0.517	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		52	230	1	0	1.19451e-25	1	1.37202e-25	52	230				
FBXO48	554251	broad.mit.edu	37	2	68691350	68691350	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68691350C>T	ENST00000377957.3	-	4	866	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	153										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTTATCTTTCCAGTTCTGCTT	0.368																																						ENST00000377957.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(457-459)ctG>ctA		F-box protein 48							207.0	205.0	206.0					2																	68691350		2203	4300	6503	SO:0001819	synonymous_variant	554251							g.chr2:68691350C>T	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.459G>A	2.37:g.68691350C>T							p.L153L	NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN			4	866	-			153						Silent	SNP	ENST00000377957.3	37	c.459G>A	CCDS33213.1																																																																																				0.368	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680		77	907	0	0	0	1	0	77	907				
OSGIN1	29948	broad.mit.edu	37	16	83994650	83994650	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83994650T>G	ENST00000343939.2	+	6	1093	c.710T>G	c.(709-711)gTc>gGc	p.V237G	OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	237					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCTGGAGGTCAAGGACTGG	0.612																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(709-711)gTc>gGc		oxidative stress induced growth inhibitor 1							67.0	68.0	68.0					16																	83994650		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83994650T>G	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.710T>G	16.37:g.83994650T>G	ENSP00000343376:p.Val237Gly					OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G	p.V237G			Q9UJX0	OSGI1_HUMAN			6	1093	+			237					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.710T>G		.	.	.	.	.	.	.	.	.	.	T	13.76	2.333273	0.41297	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.21191	2.02;2.02;2.02	4.53	4.53	0.55603	.	0.201058	0.43110	N	0.000609	T	0.19565	0.0470	L	0.40543	1.245	0.54753	D	0.999985	B	0.12630	0.006	B	0.14578	0.011	T	0.03514	-1.1029	10	0.87932	D	0	-14.9239	13.0035	0.58690	0.0:0.0:0.0:1.0	.	237	Q9UJX0	OSGI1_HUMAN	G	237;154;154	ENSP00000343376:V237G;ENSP00000355374:V154G;ENSP00000376983:V154G	ENSP00000343376:V237G	V	+	2	0	OSGIN1	82552151	0.717000	0.27966	1.000000	0.80357	0.622000	0.37654	4.020000	0.57189	1.662000	0.50781	0.402000	0.26972	GTC		0.612	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		69	326	0	0	0	1	0	69	326				
KCNQ2	3785	broad.mit.edu	37	20	62070950	62070950	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070950C>T	ENST00000359125.2	-	6	1102		c.e6+1		KCNQ2_ENST00000344462.4_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site|KCNQ2_ENST00000354587.3_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2						axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCTGGACTTACTGCAGGCAGC	0.642																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.e6+1		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						130.0	101.0	111.0					20																	62070950		2203	4300	6503	SO:0001630	splice_region_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62070950C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.927+1G>A	20.37:g.62070950C>T						KCNQ2_ENST00000359125.2_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site|KCNQ2_ENST00000430658.1_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site|KCNQ2_ENST00000370226.1_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000370222.3_Splice_Site|KCNQ2_ENST00000344462.3_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000370221.1_Splice_Site				O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1104	-	all_cancers(38;1.24e-11)							O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Splice_Site	SNP	ENST00000359125.2	37		CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980181	0.34942	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4798	0.84155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNQ2	61541394	1.000000	0.71417	0.783000	0.31826	0.019000	0.09904	7.574000	0.82434	1.908000	0.55244	0.561000	0.74099	.		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109	Intron	55	326	0	0	0	1	0	55	326				
TSHZ1	10194	broad.mit.edu	37	18	72999114	72999114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999114G>T	ENST00000580243.1	+	2	2100	c.1752G>T	c.(1750-1752)caG>caT	p.Q584H	TSHZ1_ENST00000322038.5_Missense_Mutation_p.Q539H			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	584					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGCCTACCAGCTCCCGGGCA	0.637																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1615-1617)caG>caT		teashirt zinc finger homeobox 1							34.0	36.0	35.0					18																	72999114		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999114G>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1752G>T	18.37:g.72999114G>T	ENSP00000464391:p.Gln584His					TSHZ1_ENST00000580243.1_Missense_Mutation_p.Q584H	p.Q539H	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2201	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	584					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1617G>T		.	.	.	.	.	.	.	.	.	.	G	5.717	0.316735	0.10845	.	.	ENSG00000179981	ENST00000322038	T	0.46063	0.88	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.83483	2.645	0.41441	D	0.987929	D	0.71674	0.998	D	0.79784	0.993	T	0.68383	-0.5423	10	0.87932	D	0	-33.2648	11.2543	0.49045	0.1473:0.0:0.8527:0.0	.	584	Q6ZSZ6	TSH1_HUMAN	H	539	ENSP00000323584:Q539H	ENSP00000323584:Q539H	Q	+	3	2	TSHZ1	71128102	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.607000	0.61133	0.665000	0.31066	-0.291000	0.09656	CAG		0.637	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		60	338	1	0	2.73361e-28	1	3.17826e-28	60	338				
MCCC2	64087	broad.mit.edu	37	5	70948515	70948515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70948515C>T	ENST00000340941.6	+	16	1637	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	503	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GCTGATGAAGCGGCTTTAAAA	0.443																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(1507-1509)gCg>gTg		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						58.0	57.0	57.0					5																	70948515		2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70948515C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1508C>T	5.37:g.70948515C>T	ENSP00000343657:p.Ala503Val					MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	p.A503V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	16	1637	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	503			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.1508C>T	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123269	0.56613	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.97710	-3.26;-3.26;-4.5	5.44	5.44	0.79542	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.107337	0.64402	D	0.000007	D	0.95968	0.8687	M	0.68317	2.08	0.58432	D	0.999997	B	0.31413	0.322	B	0.19391	0.025	D	0.94985	0.8129	10	0.62326	D	0.03	-14.0895	13.6461	0.62281	0.1555:0.8445:0.0:0.0	.	503	Q9HCC0	MCCB_HUMAN	V	503;465;275	ENSP00000343657:A503V;ENSP00000327308:A465V;ENSP00000425474:A275V	ENSP00000327308:A465V	A	+	2	0	MCCC2	70984271	0.999000	0.42202	0.978000	0.43139	0.977000	0.68977	3.682000	0.54656	2.556000	0.86216	0.491000	0.48974	GCG		0.443	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			24	152	0	0	0	1	0	24	152				
KCNC2	3747	broad.mit.edu	37	12	75444592	75444592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444592G>A	ENST00000549446.1	-	3	1873	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	398					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GTAGATCATGGTAGCAAATAT	0.448																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1192-1194)aCc>aTc		potassium voltage-gated channel, Shaw-related subfamily, member 2							65.0	64.0	64.0					12																	75444592		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444592G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1193C>T	12.37:g.75444592G>A	ENSP00000449253:p.Thr398Ile					KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I	p.T398I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			3	1873	-			398					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1193C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258306	0.80246	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	6.06	6.06	0.98353	Ion transport (1);	0.079838	0.53938	D	0.000052	D	0.98673	0.9555	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.993	D;D;D;D;D	0.97110	0.998;1.0;0.99;1.0;0.947	D	0.99846	1.1066	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	398;398;398;398;398	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	I	398	ENSP00000448301:T398I;ENSP00000449941:T398I;ENSP00000449253:T398I;ENSP00000340121:T398I;ENSP00000298972:T398I;ENSP00000319877:T398I;ENSP00000438423:T398I;ENSP00000376966:T398I	ENSP00000298972:T398I	T	-	2	0	KCNC2	73730859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	ACC		0.448	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		51	224	0	0	0	1	0	51	224				
AMBP	259	broad.mit.edu	37	9	116823712	116823712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116823712C>T	ENST00000265132.3	-	8	1107	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	282					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCACAGTTCGGCAGGTCTG	0.547																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(844-846)cGa>cAa		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						74.0	70.0	71.0					9																	116823712		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823712C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.845G>A	9.37:g.116823712C>T	ENSP00000265132:p.Arg282Gln						p.R282Q	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			8	1107	-			282					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.845G>A	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395005	0.83011	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.58506	0.33	5.4	5.4	0.78164	Proteinase inhibitor I2, Kunitz metazoa (4);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	16.668	0.85258	0.0:1.0:0.0:0.0	.	223;282	B7Z8R6;P02760	.;AMBP_HUMAN	Q	282;223	ENSP00000265132:R282Q	ENSP00000265132:R282Q	R	-	2	0	AMBP	115863533	1.000000	0.71417	0.932000	0.37286	0.267000	0.26476	6.837000	0.75354	2.500000	0.84329	0.655000	0.94253	CGA		0.547	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		85	452	0	0	0	1	0	85	452				
USP11	8237	broad.mit.edu	37	X	47103898	47103898	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103898C>T	ENST00000218348.3	+	14	1921	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	USP11_ENST00000377107.2_Splice_Site_p.R598C	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	641	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTGTTGCAGACGCTACGTGAC	0.542																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.e14-1		ubiquitin specific peptidase 11							87.0	70.0	76.0					X																	47103898		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47103898C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1920-1C>T	X.37:g.47103898C>T						USP11_ENST00000218348.3_Splice_Site_p.R641_splice	p.R598_splice			P51784	UBP11_HUMAN			14	2146	+			641					B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	37	c.1790_splice	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651027	0.67472	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.26067	1.78;1.76	3.91	3.91	0.45181	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.239380	0.34853	N	0.003627	T	0.32704	0.0838	M	0.75884	2.315	0.52099	D	0.999941	P;P	0.43542	0.81;0.5	B;B	0.43701	0.428;0.096	T	0.25257	-1.0137	10	0.87932	D	0	-18.5693	10.4162	0.44322	0.0:1.0:0.0:0.0	.	368;641	B3KP28;P51784	.;UBP11_HUMAN	C	598;641	ENSP00000366311:R598C;ENSP00000218348:R641C	ENSP00000218348:R641C	R	+	1	0	USP11	46988842	0.997000	0.39634	0.996000	0.52242	0.955000	0.61496	1.207000	0.32333	2.217000	0.71921	0.600000	0.82982	CGC		0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Missense_Mutation	37	173	0	0	0	1	0	37	173				
APC	324	broad.mit.edu	37	5	112111375	112111375	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112111375T>C	ENST00000457016.1	+	5	852	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	RNU6-482P_ENST00000391068.1_RNA|APC_ENST00000257430.4_Missense_Mutation_p.Y158H|APC_ENST00000508376.2_Missense_Mutation_p.Y158H			P25054	APC_HUMAN	adenomatous polyposis coli	158	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAAGACTGGTATTACGCTCA	0.289		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CI042641	APC	I		c.(472-474)Tat>Cat		adenomatous polyposis coli							94.0	100.0	98.0					5																	112111375		2202	4294	6496	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112111375T>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.472T>C	5.37:g.112111375T>C	ENSP00000413133:p.Tyr158His	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.Y158H|APC_ENST00000508376.2_Missense_Mutation_p.Y158H	p.Y158H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	5	852	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	158			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.472T>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460506	0.84317	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	L	0.52573	1.65	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.93476	0.6823	10	0.87932	D	0	-14.6976	15.5121	0.75793	0.0:0.0:0.0:1.0	.	160;158	Q4LE70;P25054	.;APC_HUMAN	H	158;168;158;158;158	ENSP00000413133:Y158H;ENSP00000423224:Y168H;ENSP00000257430:Y158H;ENSP00000427089:Y158H;ENSP00000423828:Y158H	ENSP00000257430:Y158H	Y	+	1	0	APC	112139274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.065000	0.61736	0.533000	0.62120	TAT		0.289	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		69	324	0	0	0	1	0	69	324				
NLRC3	197358	broad.mit.edu	37	16	3614447	3614447	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614447T>C	ENST00000301749.7	-	0	896				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCTGCCCATGGGCCCAGAG	0.652																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							41.0	50.0	47.0					16																	3614447		2047	4174	6221			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614447T>C	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614447T>C						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	896	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	T	0.006	-2.104095	0.00356	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.93	0.605	0.17553	.	0.490181	0.20083	N	0.099603	T	0.61160	0.2325	.	.	.	0.19300	N	0.99997	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	9	0.14252	T	0.57	.	7.8904	0.29675	0.0:0.6419:0.0:0.3581	.	211	C9JLH9	.	R	164;164;164;211;146	ENSP00000301749:H164R;ENSP00000352039:H164R;ENSP00000414415:H211R;ENSP00000323897:H146R	ENSP00000301749:H164R	H	-	2	0	NLRC3	3554448	0.001000	0.12720	0.194000	0.23346	0.894000	0.52154	-0.131000	0.10482	0.138000	0.18790	-0.177000	0.13119	CAT		0.652	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		71	286	0	0	0	1	0	71	286				
MIR377	494326	broad.mit.edu	37	14	101526926	101526926	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101526926G>A	ENST00000362145.2	+	0	0				MIR496_ENST00000385226.1_RNA|MIR154_ENST00000385243.1_RNA	NR_029869.1				microRNA 377																		TCAGGTACTCGAATGGAGGTT	0.527																																						ENST00000385226.1																			0																				78.0	71.0	73.0					14																	101526926		1566	3582	5148			0							g.chr14:101526926G>A			14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101526926G>A								NR_030176.1						0	17	+									RNA	SNP	ENST00000362145.2	37																																																																																						0.527	MIR377-201	KNOWN	basic	miRNA	miRNA		NR_029869		9	35	0	0	0	1	0	9	35				
RFK	55312	broad.mit.edu	37	9	79003496	79003496	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79003496C>T	ENST00000376736.1	-	3	644	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RFK_ENST00000479197.1_5'UTR	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	104					apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	CTTTTCTGGTCTCAGGTAGCC	0.368																																						ENST00000376736.1																			0				pancreas(1)|prostate(1)|urinary_tract(1)	3						c.(310-312)aGa>aAa		riboflavin kinase	Riboflavin(DB00140)						106.0	103.0	104.0					9																	79003496		2203	4300	6503	SO:0001583	missense	55312				riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	g.chr9:79003496C>T	AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.311G>A	9.37:g.79003496C>T	ENSP00000365926:p.Arg104Lys					RFK_ENST00000479197.1_5'UTR	p.R104K	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN			3	644	-			104					Q5JSG9|Q9NUT7	Missense_Mutation	SNP	ENST00000376736.1	37	c.311G>A	CCDS35044.2	.	.	.	.	.	.	.	.	.	.	C	34	5.302673	0.95601	.	.	ENSG00000135002	ENST00000376736;ENST00000257452;ENST00000490113	.	.	.	4.54	4.54	0.55810	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95531	0.8603	9	0.87932	D	0	-25.8219	17.6612	0.88193	0.0:1.0:0.0:0.0	.	111;104	B2RDZ2;Q969G6	.;RIFK_HUMAN	K	104;111;91	.	ENSP00000257452:R111K	R	-	2	0	RFK	78193316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.642000	0.83385	2.246000	0.74042	0.491000	0.48974	AGA		0.368	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052720.1	NM_018339		35	207	0	0	0	1	0	35	207				
FMR1	2332	broad.mit.edu	37	X	147026464	147026464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147026464C>A	ENST00000370475.4	+	15	1675	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D	FMR1_ENST00000218200.8_Missense_Mutation_p.A495D|FMR1_ENST00000370470.1_Splice_Site_p.A491D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D|FMR1_ENST00000370471.3_Splice_Site_p.L426I|FMR1_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1-IT1_ENST00000441414.1_RNA	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	516	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTAGCTCCAACAGAG	0.507									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1483-1485)gCt>gAt		fragile X mental retardation 1							64.0	57.0	60.0					X																	147026464		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026464C>A	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1547C>A	X.37:g.147026464C>A	ENSP00000359506:p.Ala516Asp					FMR1_ENST00000370470.1_Splice_Site_p.A491_splice|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1_ENST00000370475.4_Missense_Mutation_p.A516D|FMR1_ENST00000370471.3_Splice_Site_p.L426_splice|FMR1_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D	p.A495D	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			14	1713	+	Acute lymphoblastic leukemia(192;6.56e-05)		516			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1484C>A	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.511002|3.511002	0.64522|0.64522	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235|ENST00000370471	T;T;T;T;T;T|T	0.38077|0.55413	1.16;1.16;1.16;1.16;1.5;1.16|0.52	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.46157|0.46157	1.445|1.445	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|.	0.998;1.0;0.999;0.999;0.998|.	T|T	0.64097|0.64097	-0.6487|-0.6487	10|7	0.23891|0.66056	T|D	0.37|0.02	-30.7702|-30.7702	17.5377|17.5377	0.87837|0.87837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163;516;411;470;493|.	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0|.	.;FMR1_HUMAN;.;.;.|.	D|I	495;483;516;493;491;163|426	ENSP00000218200:A495D;ENSP00000359508:A483D;ENSP00000359506:A516D;ENSP00000395923:A493D;ENSP00000359501:A491D;ENSP00000413764:A163D|ENSP00000359502:L426I	ENSP00000218200:A495D|ENSP00000359502:L426I	A|L	+|+	2|1	0|0	FMR1|FMR1	146834156|146834156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.612000|0.612000	0.37316|0.37316	7.218000|7.218000	0.77991|0.77991	2.357000|2.357000	0.79964|0.79964	0.506000|0.506000	0.49869|0.49869	GCT|CTC		0.507	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		7	81	1	0	0.00307968	1	0.00310409	7	81				
OR6A2	8590	broad.mit.edu	37	11	6816737	6816737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816737G>A	ENST00000332601.3	-	1	391	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	68					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCAGAAAGGACATATTAGC	0.438																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(202-204)tCc>tTc		olfactory receptor, family 6, subfamily A, member 2							155.0	143.0	147.0					11																	6816737		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816737G>A	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.203C>T	11.37:g.6816737G>A	ENSP00000330384:p.Ser68Phe						p.S68F	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	391	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	68					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.203C>T	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770423	0.69992	.	.	ENSG00000184933	ENST00000332601	T	0.12361	2.69	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.47710	0.1460	M	0.92604	3.325	0.39007	D	0.959472	D	0.89917	1.0	D	0.91635	0.999	T	0.61530	-0.7044	10	0.87932	D	0	.	16.0847	0.81038	0.0:0.0:1.0:0.0	.	68	O95222	OR6A2_HUMAN	F	68	ENSP00000330384:S68F	ENSP00000330384:S68F	S	-	2	0	OR6A2	6773313	0.937000	0.31787	1.000000	0.80357	0.981000	0.71138	4.006000	0.57083	2.741000	0.93983	0.655000	0.94253	TCC		0.438	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		107	422	0	0	0	1	0	107	422				
ACTL8	81569	broad.mit.edu	37	1	18149669	18149669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18149669G>A	ENST00000375406.1	+	2	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	56					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D56Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGGCATCGACATTTGCCA	0.572																																						ENST00000375406.1																			1	Substitution - Missense(1)	p.D56Y(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(166-168)Gac>Aac		actin-like 8							134.0	119.0	124.0					1																	18149669		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18149669G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.166G>A	1.37:g.18149669G>A	ENSP00000364555:p.Asp56Asn						p.D56N	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	382	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	56					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.166G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218870	0.95104	.	.	ENSG00000117148	ENST00000375406	D	0.94376	-3.41	4.98	0.75	0.18387	.	0.337294	0.21390	N	0.075327	D	0.87857	0.6283	L	0.43152	1.355	0.21627	N	0.999612	B	0.18968	0.032	B	0.17979	0.02	T	0.79827	-0.1639	10	0.87932	D	0	-46.8186	6.0606	0.19837	0.4579:0.0:0.5421:0.0	.	56	Q9H568	ACTL8_HUMAN	N	56	ENSP00000364555:D56N	ENSP00000364555:D56N	D	+	1	0	ACTL8	18022256	0.999000	0.42202	0.777000	0.31699	0.724000	0.41520	3.131000	0.50515	0.294000	0.22547	0.655000	0.94253	GAC		0.572	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		12	598	0	0	0	1	0	12	598				
SELE	6401	broad.mit.edu	37	1	169695051	169695051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695051G>A	ENST00000333360.7	-	12	1911	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V	SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V|SELE_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367774.1_Missense_Mutation_p.A465V|SELE_ENST00000367776.1_Missense_Mutation_p.A528V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.A466V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	591					actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AACTTACCTGGCAGGAACAAA	0.328																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1771-1773)gCc>gTc		selectin E							74.0	72.0	73.0					1																	169695051		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169695051G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1772C>T	1.37:g.169695051G>A	ENSP00000331736:p.Ala591Val					SELE_ENST00000367776.1_Missense_Mutation_p.A528V|SELE_ENST00000367780.4_Missense_Mutation_p.A466V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V|SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367774.1_Missense_Mutation_p.A465V	p.A591V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			12	1911	-	all_hematologic(923;0.208)		591					A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1772C>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226299	0.39300	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21734	2.06;1.99;2.23;2.01;2.07;1.99;2.23;2.06;2.01	4.9	3.96	0.45880	.	0.482787	0.15520	N	0.258107	T	0.08714	0.0216	M	0.68952	2.095	0.22684	N	0.998856	P	0.45126	0.851	B	0.33339	0.162	T	0.08229	-1.0732	10	0.41790	T	0.15	.	10.6767	0.45789	0.0:0.0:0.8087:0.1913	.	591	P16581	LYAM2_HUMAN	V	528;528;466;465;591;528;466;528;465	ENSP00000356755:A528V;ENSP00000356756:A528V;ENSP00000356754:A466V;ENSP00000356753:A465V;ENSP00000331736:A591V;ENSP00000356751:A528V;ENSP00000356749:A466V;ENSP00000356750:A528V;ENSP00000356748:A465V	ENSP00000331736:A591V	A	-	2	0	SELE	167961675	0.947000	0.32204	0.880000	0.34516	0.545000	0.35147	2.955000	0.49121	1.152000	0.42452	0.650000	0.86243	GCC		0.328	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		42	264	0	0	0	1	0	42	264				
CTNNA2	1496	broad.mit.edu	37	2	80101316	80101316	+	Missense_Mutation	SNP	G	G	A	rs371032975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80101316G>A	ENST00000402739.4	+	5	705	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	234					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCAGATGTCGCCGCTACGAG	0.577																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(700-702)Gcc>Acc		catenin (cadherin-associated protein), alpha 2		G	THR/ALA,THR/ALA	0,4156		0,0,2078	51.0	55.0	53.0		700,700	5.7	0.7	2		53	1,8443		0,1,4221	no	missense,missense	CTNNA2	NM_001164883.1,NM_004389.3	58,58	0,1,6299	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging,possibly-damaging	234/861,234/906	80101316	1,12599	2078	4222	6300	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101316G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.700G>A	2.37:g.80101316G>A	ENSP00000384638:p.Ala234Thr					CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A234T	p.A234T			P26232	CTNA2_HUMAN			10	1424	+			234					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.700G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.086571	0.76642	0.0	1.18E-4	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.75777	2.31	0.80722	D	1	D;D;D	0.63880	0.989;0.993;0.993	P;P;P	0.55999	0.789;0.684;0.768	T	0.53301	-0.8458	10	0.19147	T	0.46	.	19.8448	0.96704	0.0:0.0:1.0:0.0	.	234;234;234	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	234;234;268;234;234;234	ENSP00000418191:A234T;ENSP00000419295:A234T;ENSP00000355398:A268T;ENSP00000384638:A234T;ENSP00000444675:A234T;ENSP00000441705:A234T	ENSP00000355398:A268T	A	+	1	0	CTNNA2	79954824	1.000000	0.71417	0.742000	0.31022	0.816000	0.46133	9.869000	0.99810	2.686000	0.91538	0.650000	0.86243	GCC		0.577	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		78	298	0	0	0	1	0	78	298				
HIVEP2	3097	broad.mit.edu	37	6	143074447	143074447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143074447G>T	ENST00000367604.1	-	9	7777	c.7138C>A	c.(7138-7140)Ccc>Acc	p.P2380T	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2380T|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGGTACAGGGCTGACCTGGC	0.542																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(7138-7140)Ccc>Acc		human immunodeficiency virus type I enhancer binding protein 2							121.0	124.0	123.0					6																	143074447		2068	4202	6270	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074447G>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7138C>A	6.37:g.143074447G>T	ENSP00000356576:p.Pro2380Thr					RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2380T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T	p.P2380T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	7880	-			2380					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.7138C>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	0.810	-0.752422	0.03041	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02177	4.41;4.41;4.41	5.78	3.89	0.44902	.	0.365525	0.29646	N	0.011573	T	0.00524	0.0017	N	0.08118	0	0.26332	N	0.977501	B	0.06786	0.001	B	0.04013	0.001	T	0.48822	-0.9001	10	0.24483	T	0.36	-9.7779	11.1307	0.48345	0.0:0.2168:0.5767:0.2064	.	2380	P31629	ZEP2_HUMAN	T	2380	ENSP00000356576:P2380T;ENSP00000356575:P2380T;ENSP00000012134:P2380T	ENSP00000012134:P2380T	P	-	1	0	HIVEP2	143116140	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.515000	0.22801	1.431000	0.47355	0.655000	0.94253	CCC		0.542	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			118	540	1	0	4.53158e-46	1	5.56357e-46	118	540				
CSMD3	114788	broad.mit.edu	37	8	114290828	114290828	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114290828A>G	ENST00000297405.5	-	3	751	c.507T>C	c.(505-507)taT>taC	p.Y169Y	CSMD3_ENST00000455883.2_Silent_p.Y169Y|CSMD3_ENST00000343508.3_Silent_p.Y129Y|CSMD3_ENST00000352409.3_Silent_p.Y169Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	169	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTTCGTAATATACCTTAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(505-507)taT>taC		CUB and Sushi multiple domains 3							116.0	98.0	104.0					8																	114290828		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114290828A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.507T>C	8.37:g.114290828A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.Y129Y|CSMD3_ENST00000455883.2_Silent_p.Y169Y|CSMD3_ENST00000352409.3_Silent_p.Y169Y	p.Y169Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			3	751	-			169			CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.507T>C	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	230	0	0	0	1	0	21	230				
KDM4B	23030	broad.mit.edu	37	19	5047658	5047658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5047658C>T	ENST00000159111.4	+	6	822	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y|KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	202	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAACTACCTGCACTTTGGGGA	0.632																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(604-606)Cac>Tac		lysine (K)-specific demethylase 4B							238.0	162.0	188.0					19																	5047658		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5047658C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.604C>T	19.37:g.5047658C>T	ENSP00000159111:p.His202Tyr					KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y|KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y	p.H202Y	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			6	822	+			202			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.604C>T	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960249	0.92791	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71817	-0.6;-0.6;-0.6	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92139	0.5719	10	0.87932	D	0	-45.6557	16.9672	0.86290	0.0:1.0:0.0:0.0	.	202;202;202	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	Y	202	ENSP00000159111:H202Y;ENSP00000371178:H202Y;ENSP00000440495:H202Y	ENSP00000159111:H202Y	H	+	1	0	KDM4B	4998658	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.564000	0.82326	2.223000	0.72356	0.655000	0.94253	CAC		0.632	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		95	472	0	0	0	1	0	95	472				
NACA	4666	broad.mit.edu	37	12	57110723	57110723	+	Missense_Mutation	SNP	C	C	A	rs61937760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57110723C>A	ENST00000454682.1	-	3	4872	c.4591G>T	c.(4591-4593)Gcg>Tcg	p.A1531S	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1531	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAGAGTCGCTGTTGGGGCA	0.582			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(4591-4593)Gcg>Tcg		nascent polypeptide-associated complex alpha subunit							41.0	46.0	44.0					12																	57110723		1541	3532	5073	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57110723C>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4591G>T	12.37:g.57110723C>A	ENSP00000403817:p.Ala1531Ser					NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron	p.A1531S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4872	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.4591G>T		.	.	.	.	.	.	.	.	.	.	C	4.474	0.087945	0.08583	.	.	ENSG00000196531	ENST00000454682	T	0.47869	0.83	2.83	1.55	0.23275	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.15321	-1.0441	7	.	.	.	.	3.2622	0.06853	0.2245:0.5707:0.0:0.2048	.	1531	E9PAV3	.	S	1531	ENSP00000403817:A1531S	.	A	-	1	0	NACA	55396990	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.017000	0.03630	0.058000	0.16222	0.298000	0.19748	GCG		0.582	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		84	309	1	0	1.13027e-35	1	1.35034e-35	84	309				
UBP1	7342	broad.mit.edu	37	3	33453162	33453162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33453162C>A	ENST00000283629.3	-	5	995	c.466G>T	c.(466-468)Gga>Tga	p.G156*	UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|UBP1_ENST00000486388.1_5'Flank|RNU7-110P_ENST00000516891.1_RNA|UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	156					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCAATTATTCCCACAGACATT	0.333																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(466-468)Gga>Tga		upstream binding protein 1 (LBP-1a)							125.0	122.0	123.0					3																	33453162		2203	4300	6503	SO:0001587	stop_gained	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33453162C>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.466G>T	3.37:g.33453162C>A	ENSP00000283629:p.Gly156*					UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*	p.G156*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			5	995	-			156					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Nonsense_Mutation	SNP	ENST00000283629.3	37	c.466G>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	41	9.064091	0.99053	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8616	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	X	156	.	ENSP00000283628:G156X	G	-	1	0	UBP1	33428166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.850000	0.98022	0.650000	0.86243	GGA		0.333	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		89	463	1	0	5.42582e-32	1	6.39997e-32	89	463				
EIF4H	7458	broad.mit.edu	37	7	73609630	73609630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73609630C>T	ENST00000265753.8	+	7	878	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	247					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						TCAAAAGGAGCAAGAATGAGC	0.607																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(739-741)Caa>Taa		eukaryotic translation initiation factor 4H							37.0	34.0	35.0					7																	73609630		2203	4300	6503	SO:0001587	stop_gained	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609630C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.739C>T	7.37:g.73609630C>T	ENSP00000265753:p.Gln247*					EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	p.Q247*	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			7	878	+			247					A8K3R1|D3DXF6|D3DXF8	Nonsense_Mutation	SNP	ENST00000265753.8	37	c.739C>T	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516283	0.85495	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	.	.	.	4.49	4.49	0.54785	.	0.249975	0.33199	N	0.005166	.	.	.	.	.	.	0.31653	N	0.646531	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-6.0173	11.1794	0.48618	0.1841:0.8159:0.0:0.0	.	.	.	.	X	247;227	.	ENSP00000265753:Q247X	Q	+	1	0	EIF4H	73247566	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	3.312000	0.51927	2.321000	0.78463	0.563000	0.77884	CAA		0.607	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		37	204	0	0	0	1	0	37	204				
ATG3	64422	broad.mit.edu	37	3	112253070	112253070	+	Intron	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112253070C>T	ENST00000283290.5	-	11	1298				ATG3_ENST00000495756.1_5'Flank|ATG3_ENST00000402314.2_Silent_p.T303T	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3						autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AAAAAAAAATCGTTAACAGCC	0.333																																						ENST00000402314.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						c.(907-909)acG>acA		autophagy related 3																																				SO:0001627	intron_variant	64422				autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	g.chr3:112253070C>T		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.863+45G>A	3.37:g.112253070C>T						ATG3_ENST00000283290.5_Intron	p.T303T			Q9NT62	ATG3_HUMAN			11	1296	-			303					Q6PKC5|Q9H6L9	Silent	SNP	ENST00000283290.5	37	c.909G>A	CCDS2966.1																																																																																				0.333	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		18	92	0	0	0	1	0	18	92				
DMXL2	23312	broad.mit.edu	37	15	51860756	51860756	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51860756C>A	ENST00000251076.5	-	3	501		c.e3-1		DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGCTGCAATCTAAAAAAGAA	0.249																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.e3-1		Dmx-like 2							27.0	27.0	27.0					15																	51860756		2170	4257	6427	SO:0001630	splice_region_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51860756C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.214-1G>T	15.37:g.51860756C>A						DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site		NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	3	501	-								B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37		CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550711	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7452	0.91789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49648048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.359000	0.79477	2.507000	0.84556	0.650000	0.86243	.		0.249	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	22	76	1	0	9.95505e-16	1	1.08957e-15	22	76				
SLCO3A1	28232	broad.mit.edu	37	15	92647576	92647576	+	Silent	SNP	C	C	T	rs552651566		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92647576C>T	ENST00000318445.6	+	4	1027	c.813C>T	c.(811-813)tgC>tgT	p.C271C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.C271C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	271					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TTCTGCTCTGCGGTGCCTTAC	0.577																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(811-813)tgC>tgT		solute carrier organic anion transporter family, member 3A1							222.0	196.0	205.0					15																	92647576		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92647576C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.813C>T	15.37:g.92647576C>T						SLCO3A1_ENST00000424469.2_Silent_p.C271C|SLCO3A1_ENST00000555549.1_3'UTR	p.C271C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		4	1027	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		271					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.813C>T	CCDS10371.1																																																																																				0.577	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		86	851	0	0	0	1	0	86	851				
BMP1	649	broad.mit.edu	37	8	22064400	22064400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22064400G>A	ENST00000306385.5	+	17	2937	c.2267G>A	c.(2266-2268)gGt>gAt	p.G756D	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	756	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCACCAGTGGTACCATCACC	0.622																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2266-2268)gGt>gAt		bone morphogenetic protein 1							102.0	77.0	85.0					8																	22064400		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22064400G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2267G>A	8.37:g.22064400G>A	ENSP00000305714:p.Gly756Asp					BMP1_ENST00000354870.5_3'UTR	p.G756D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	17	2937	+			756			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2267G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652649	0.88056	.	.	ENSG00000168487	ENST00000306385	T	0.50548	0.74	4.0	4.0	0.46444	CUB (5);	0.000000	0.39341	U	0.001397	T	0.78464	0.4287	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86443	0.1768	10	0.72032	D	0.01	.	15.0597	0.71942	0.0:0.0:1.0:0.0	.	756	P13497	BMP1_HUMAN	D	756	ENSP00000305714:G756D	ENSP00000305714:G756D	G	+	2	0	BMP1	22120345	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.640000	0.98453	2.052000	0.61016	0.462000	0.41574	GGT		0.622	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		54	234	0	0	0	1	0	54	234				
FBXO24	26261	broad.mit.edu	37	7	100190416	100190416	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100190416A>G	ENST00000241071.6	+	5	891	c.569A>G	c.(568-570)gAc>gGc	p.D190G	FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	190					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTGCCTCGGACCCAAGGTGT	0.577																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(568-570)gAc>gGc		F-box protein 24							49.0	47.0	48.0					7																	100190416		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190416A>G	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.569A>G	7.37:g.100190416A>G	ENSP00000241071:p.Asp190Gly					FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G|FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|PCOLCE-AS1_ENST00000442166.2_RNA	p.D190G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			5	891	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		190					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.569A>G	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386392	0.82902	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.63255	1.45;-0.03;-0.03;1.46;1.41	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	T	0.67078	0.2855	N	0.19112	0.55	0.48830	D	0.999714	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	T	0.71764	-0.4494	10	0.72032	D	0.01	-27.7735	14.0457	0.64704	1.0:0.0:0.0:0.0	.	178;228;190;176	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	G	190;176;176;178;228	ENSP00000241071:D190G;ENSP00000353821:D176G;ENSP00000419602:D176G;ENSP00000420239:D178G;ENSP00000416558:D228G	ENSP00000241071:D190G	D	+	2	0	FBXO24	100028352	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.395000	0.66291	2.212000	0.71576	0.456000	0.33151	GAC		0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			32	137	0	0	0	1	0	32	137				
GOT1	2805	broad.mit.edu	37	10	101190246	101190246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101190246C>A	ENST00000370508.5	-	1	104	c.77G>T	c.(76-78)aGg>aTg	p.R26M	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_5'Flank|RP11-441O15.3_ENST00000416191.2_lincRNA	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	26					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CGGATCCTCCCTGAAGTCGGC	0.602																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(76-78)aGg>aTg		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						109.0	106.0	107.0					10																	101190246		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101190246C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.77G>T	10.37:g.101190246C>A	ENSP00000359539:p.Arg26Met					GOT1_ENST00000471741.1_5'UTR	p.R26M	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	1	104	-		Ovarian(717;0.028)|Colorectal(252;0.234)	26					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.77G>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585378	0.66105	.	.	ENSG00000120053	ENST00000370508;ENST00000535447	T	0.23348	1.91	5.77	5.77	0.91146	Pyridoxal phosphate-dependent transferase, major domain (1);	0.107962	0.64402	D	0.000006	T	0.35364	0.0929	M	0.75615	2.305	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.09377	0.004;0.004	T	0.13469	-1.0508	10	0.87932	D	0	-4.1193	19.133	0.93415	0.0:1.0:0.0:0.0	.	26;26	Q2TU84;P17174	.;AATC_HUMAN	M	26	ENSP00000359539:R26M	ENSP00000359539:R26M	R	-	2	0	GOT1	101180236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.143000	0.58051	2.885000	0.99019	0.655000	0.94253	AGG		0.602	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		133	610	1	0	5.753e-54	1	7.17579e-54	133	610				
CAPZA3	93661	broad.mit.edu	37	12	18891950	18891950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891950G>A	ENST00000317658.3	+	1	906	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	250					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTTATCCAATGAAGCCCTGAG	0.433																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(748-750)Gaa>Aaa		capping protein (actin filament) muscle Z-line, alpha 3							49.0	52.0	51.0					12																	18891950		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891950G>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.748G>A	12.37:g.18891950G>A	ENSP00000326238:p.Glu250Lys						p.E250K	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	906	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	250					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.748G>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201227	0.22121	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	2.65	0.31530	.	0.620826	0.14115	N	0.340444	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B	0.31413	0.322	B	0.29176	0.099	T	0.15009	-1.0452	9	0.59425	D	0.04	-11.4578	8.1429	0.31093	0.0:0.32:0.5157:0.1643	.	250	Q96KX2	CAZA3_HUMAN	K	250	.	ENSP00000326238:E250K	E	+	1	0	CAPZA3	18783217	0.827000	0.29292	0.307000	0.25127	0.631000	0.37964	2.406000	0.44557	1.141000	0.42275	0.462000	0.41574	GAA		0.433	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		8	300	0	0	0	1	0	8	300				
OR1F2P	26184	broad.mit.edu	37	16	3265980	3265980	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3265980G>A	ENST00000576468.1	+	0	418																											CCGCTTTGTCGCCGTGTGCCG	0.522																																						ENST00000576468.1																			0																																																			0							g.chr16:3265980G>A																													16.37:g.3265980G>A														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.522	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			86	274	0	0	0	1	0	86	274				
MLLT10	8028	broad.mit.edu	37	10	21962743	21962743	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21962743T>C	ENST00000307729.7	+	11	1694	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S506P|MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	506	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTAGCATCAGCTGCAGG	0.448			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1516-1518)Tca>Cca		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							96.0	94.0	94.0					10																	21962743		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962743T>C	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1516T>C	10.37:g.21962743T>C	ENSP00000307411:p.Ser506Pro					MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P|MLLT10_ENST00000307729.7_Missense_Mutation_p.S506P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P	p.S506P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			11	1864	+			506			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1516T>C	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495950	0.64186	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.16597	2.33;2.44;2.45;2.44	5.62	5.62	0.85841	.	0.494770	0.22510	N	0.059111	T	0.31420	0.0796	L	0.51422	1.61	0.80722	D	1	P;D;D;D	0.65815	0.867;0.966;0.995;0.973	P;P;P;P	0.56278	0.623;0.598;0.795;0.674	T	0.01242	-1.1408	10	0.51188	T	0.08	.	15.823	0.78673	0.0:0.0:0.0:1.0	.	352;506;506;506	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	506;506;506;352;506;149;148	ENSP00000366272:S506P;ENSP00000401406:S506P;ENSP00000307411:S506P;ENSP00000366258:S506P	ENSP00000307411:S506P	S	+	1	0	MLLT10	22002749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.149000	0.67028	0.477000	0.44152	TCA		0.448	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			93	284	0	0	0	1	0	93	284				
HTR5A	3361	broad.mit.edu	37	7	154863025	154863025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863025G>A	ENST00000287907.2	+	1	992	c.416G>A	c.(415-417)cGc>cAc	p.R139H	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	139					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GCCCTGGACCGCTACTGGTCC	0.632																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(415-417)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							82.0	61.0	68.0					7																	154863025		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863025G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.416G>A	7.37:g.154863025G>A	ENSP00000287907:p.Arg139His					AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.R139H	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	992	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	139					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.416G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335525	0.95758	.	.	ENSG00000157219	ENST00000287907	D	0.97161	-4.27	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98600	1.0658	10	0.87932	D	0	.	17.9677	0.89105	0.0:0.0:1.0:0.0	.	139	P47898	5HT5A_HUMAN	H	139	ENSP00000287907:R139H	ENSP00000287907:R139H	R	+	2	0	HTR5A	154493958	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.222000	0.95196	2.465000	0.83290	0.655000	0.94253	CGC		0.632	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		52	191	0	0	0	1	0	52	191				
ZNF133	7692	broad.mit.edu	37	20	18296806	18296806	+	Silent	SNP	G	G	A	rs541052064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18296806G>A	ENST00000316358.4	+	4	1408	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	ZNF133_ENST00000377671.3_Silent_p.P436P|ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000396026.3_Silent_p.P440P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Silent_p.P374P|ZNF133_ENST00000535822.1_Silent_p.P342P|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	437					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGGAGAAGCCGTATGTTTGTG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21372	0.001		0.0	False		,,,				2504	0.0					ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1306-1308)ccG>ccA		zinc finger protein 133							63.0	64.0	64.0					20																	18296806		2203	4300	6503	SO:0001819	synonymous_variant	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18296806G>A	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1311G>A	20.37:g.18296806G>A						ZNF133_ENST00000402618.2_Silent_p.P374P|ZNF133_ENST00000396026.3_Silent_p.P440P|ZNF133_ENST00000316358.4_Silent_p.P437P|ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000535822.1_Silent_p.P342P	p.P436P	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	1867	+			437					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	37	c.1308G>A																																																																																					0.537	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		94	365	0	0	0	1	0	94	365				
DYNC1H1	1778	broad.mit.edu	37	14	102510214	102510214	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102510214T>C	ENST00000360184.4	+	70	12680	c.12516T>C	c.(12514-12516)tcT>tcC	p.S4172S	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4172	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCACCAGTCTCCCAACGAGC	0.507																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12514-12516)tcT>tcC		dynein, cytoplasmic 1, heavy chain 1							84.0	81.0	82.0					14																	102510214		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102510214T>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12516T>C	14.37:g.102510214T>C						RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.S4172S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			70	12680	+			4172			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.12516T>C	CCDS9966.1																																																																																				0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		41	264	0	0	0	1	0	41	264				
RAPGEF3	10411	broad.mit.edu	37	12	48134179	48134179	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48134179C>A	ENST00000449771.2	-	22	2320		c.e22-1		RAPGEF3_ENST00000171000.4_Splice_Site|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000549151.1_Splice_Site|RAPGEF3_ENST00000405493.2_Splice_Site|RAPGEF3_ENST00000548919.1_Intron|RP1-197B17.3_ENST00000547799.1_lincRNA			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTCCTTGAGGCTGTGAGCAGA	0.582																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.e22-1		Rap guanine nucleotide exchange factor (GEF) 3							48.0	47.0	47.0					12																	48134179		2203	4300	6503	SO:0001630	splice_region_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48134179C>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2232-1G>T	12.37:g.48134179C>A						RAPGEF3_ENST00000549151.1_Splice_Site|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000449771.2_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site		NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	22	2315	-	Lung SC(27;0.192)							A8K2G5|E7EQC8|O95634|Q8WVN0	Splice_Site	SNP	ENST00000449771.2	37		CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584798	0.65992	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1893	0.81975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF3	46420446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.123000	0.77176	2.472000	0.83506	0.644000	0.83932	.		0.582	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	Intron	42	192	1	0	9.62906e-15	1	1.04819e-14	42	192				
PPT2	9374	broad.mit.edu	37	6	32130344	32130344	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130344G>A	ENST00000324816.6	+	8	1278		c.e8-1		PPT2-EGFL8_ENST00000422437.1_Splice_Site|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000395523.1_Splice_Site|EGFL8_ENST00000333845.6_5'Flank|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2						cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TCTCTTTGTAGCTTCTTTGGT	0.542																																						ENST00000422437.1																			0											c.e8-1									158.0	176.0	170.0					6																	32130344		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr6:32130344G>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.711-1G>A	6.37:g.32130344G>A						PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2_ENST00000324816.6_Splice_Site								8	901	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Splice_Site	SNP	ENST00000324816.6	37		CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307831	0.81247	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6834	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPT2	32238322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.851000	0.75425	2.685000	0.91497	0.655000	0.94253	.		0.542	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	Intron	55	1459	0	0	0	1	0	55	1459				
TULP4	56995	broad.mit.edu	37	6	158870179	158870179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158870179C>T	ENST00000367097.3	+	4	2052	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	232					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGAGCGACACGGACTCAGAT	0.577																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(694-696)aCg>aTg		tubby like protein 4							169.0	137.0	147.0					6																	158870179		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158870179C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.695C>T	6.37:g.158870179C>T	ENSP00000356064:p.Thr232Met					TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	p.T232M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	4	2052	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	232					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.695C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520788	0.64747	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.03607	3.87;3.87	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.108926	0.64402	D	0.000008	T	0.01940	0.0061	L	0.51422	1.61	0.36864	D	0.888589	P;B;P	0.40534	0.487;0.145;0.72	B;B;B	0.25759	0.015;0.035;0.063	T	0.58228	-0.7673	10	0.31617	T	0.26	-24.0194	18.9309	0.92564	0.0:1.0:0.0:0.0	.	232;232;232	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	M	232	ENSP00000356064:T232M;ENSP00000356061:T232M	ENSP00000356061:T232M	T	+	2	0	TULP4	158790167	1.000000	0.71417	0.413000	0.26509	0.981000	0.71138	5.921000	0.70028	2.484000	0.83849	0.563000	0.77884	ACG		0.577	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		63	370	0	0	0	1	0	63	370				
HPS1	3257	broad.mit.edu	37	10	100178003	100178003	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100178003G>A	ENST00000325103.6	-	19	2102	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	HPS1_ENST00000361490.4_Silent_p.L623L|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	623					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CGATCATCTGGAGTTTGTACC	0.637									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1867-1869)ctC>ctT		Hermansky-Pudlak syndrome 1							115.0	94.0	101.0					10																	100178003		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100178003G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1869C>T	10.37:g.100178003G>A						HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.L623L	p.L623L	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	19	2102	-		Colorectal(252;0.234)	623					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.1869C>T	CCDS7475.1																																																																																				0.637	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		16	379	0	0	0	1	0	16	379				
PDE3A	5139	broad.mit.edu	37	12	20790055	20790055	+	Missense_Mutation	SNP	G	G	A	rs553709588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20790055G>A	ENST00000359062.3	+	9	2063	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	675					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTTGCTCCCGAACCTCTTGT	0.338																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2023-2025)Gaa>Aaa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						88.0	83.0	84.0					12																	20790055		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20790055G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2023G>A	12.37:g.20790055G>A	ENSP00000351957:p.Glu675Lys					PDE3A_ENST00000544307.1_3'UTR	p.E675K	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			9	2063	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	675					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2023G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063574	0.93898	.	.	ENSG00000172572	ENST00000359062	T	0.63255	-0.03	4.79	4.79	0.61399	.	0.000000	0.42964	U	0.000636	T	0.73961	0.3654	L	0.46157	1.445	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.72805	-0.4182	10	0.39692	T	0.17	.	18.0307	0.89283	0.0:0.0:1.0:0.0	.	675	Q14432	PDE3A_HUMAN	K	675	ENSP00000351957:E675K	ENSP00000351957:E675K	E	+	1	0	PDE3A	20681322	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.963000	0.76055	2.487000	0.83934	0.591000	0.81541	GAA		0.338	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			35	199	0	0	0	1	0	35	199				
AHNAK	79026	broad.mit.edu	37	11	62293900	62293900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62293900G>A	ENST00000378024.4	-	5	8263	c.7989C>T	c.(7987-7989)ccC>ccT	p.P2663P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2663					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCAGCCTTGGGCAGCTTCA	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7987-7989)ccC>ccT		AHNAK nucleoprotein							175.0	176.0	176.0					11																	62293900		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293900G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7989C>T	11.37:g.62293900G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2663P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8263	-		Melanoma(852;0.155)	2663					A1A586	Silent	SNP	ENST00000378024.4	37	c.7989C>T	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		233	1048	0	0	0	1	0	233	1048				
HIPK1	204851	broad.mit.edu	37	1	114483457	114483457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114483457C>A	ENST00000369558.1	+	2	684	c.452C>A	c.(451-453)aCt>aAt	p.T151N	HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	151					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACAGGACTGTGGTGGGT	0.493																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(451-453)aCt>aAt		homeodomain interacting protein kinase 1							57.0	55.0	56.0					1																	114483457		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483457C>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.452C>A	1.37:g.114483457C>A	ENSP00000358571:p.Thr151Asn					HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N	p.T151N			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	684	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	151					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.452C>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380664	0.42207	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.72;0.73;0.73;0.72;0.74	5.44	5.44	0.79542	.	0.088954	0.46758	D	0.000261	T	0.21718	0.0523	N	0.11560	0.145	0.80722	D	1	B;P	0.38167	0.072;0.621	B;B	0.39971	0.059;0.315	T	0.08289	-1.0729	10	0.24483	T	0.36	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	151;151	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	N	222;151;151;151;151;151;151	ENSP00000407442:T222N;ENSP00000358572:T151N;ENSP00000409673:T151N;ENSP00000358567:T151N;ENSP00000358568:T151N;ENSP00000358571:T151N;ENSP00000358574:T151N	ENSP00000358567:T151N	T	+	2	0	HIPK1	114284980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.826000	0.62715	2.546000	0.85860	0.650000	0.86243	ACT		0.493	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		50	223	1	0	1.47857e-17	1	1.63348e-17	50	223				
CSPG4	1464	broad.mit.edu	37	15	75981567	75981567	+	Silent	SNP	C	C	T	rs567486526	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981567C>T	ENST00000308508.5	-	3	1931	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	613	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGAACTCGGTCGCCGGCTCCC	0.672													C|||	4	0.000798722	0.0	0.0	5008	,	,		16408	0.0		0.0	False		,,,				2504	0.0041					ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1837-1839)gcG>gcA		chondroitin sulfate proteoglycan 4							13.0	16.0	15.0					15																	75981567		2173	4258	6431	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981567C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1839G>A	15.37:g.75981567C>T							p.A613A	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1931	-			613			Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.1839G>A	CCDS10284.1																																																																																				0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		33	169	0	0	0	1	0	33	169				
AGPAT4	56895	broad.mit.edu	37	6	161560502	161560502	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161560502T>C	ENST00000320285.4	-	8	1206	c.994A>G	c.(994-996)Agc>Ggc	p.S332G	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	332					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GAAGACCCGCTCCTGATCATG	0.632																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(994-996)Agc>Ggc		1-acylglycerol-3-phosphate O-acyltransferase 4							110.0	111.0	111.0					6																	161560502		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560502T>C	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.994A>G	6.37:g.161560502T>C	ENSP00000314036:p.Ser332Gly					AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	p.S332G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1206	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	332					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.994A>G	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851995	0.51270	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.34072	1.38	5.29	5.29	0.74685	.	0.096844	0.64402	D	0.000001	T	0.28962	0.0719	M	0.78456	2.415	0.80722	D	1	B;B	0.29936	0.085;0.262	B;B	0.26864	0.074;0.053	T	0.29119	-1.0022	10	0.66056	D	0.02	-14.4341	15.2173	0.73277	0.0:0.0:0.0:1.0	.	170;332	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	G	332;170	ENSP00000314036:S332G	ENSP00000314036:S332G	S	-	1	0	AGPAT4	161480492	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	6.077000	0.71275	1.988000	0.58038	0.455000	0.32223	AGC		0.632	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		156	801	0	0	0	1	0	156	801				
LINC01420	550643	broad.mit.edu	37	X	56763856	56763856	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:56763856G>T	ENST00000374922.4	+	0	468					NR_015367.2																						AAGGTTCTCAGGAAGCCTTCT	0.378																																						ENST00000374922.4																			0																																																			0							g.chrX:56763856G>T																													X.37:g.56763856G>T								NR_015367.2						0	468	+									RNA	SNP	ENST00000374922.4	37																																																																																						0.378	RP11-622K12.1-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000056902.1			6	156	1	0	3.59834e-05	1	3.67436e-05	6	156				
SERPINE1	5054	broad.mit.edu	37	7	100779051	100779051	+	Silent	SNP	C	C	T	rs538551265		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100779051C>T	ENST00000223095.4	+	7	1213	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	SERPINE1_ENST00000445463.2_Silent_p.N337N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	352					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCGAGGTGAACGAGAGTGGCA	0.582																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1054-1056)aaC>aaT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						86.0	77.0	80.0					7																	100779051		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779051C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1056C>T	7.37:g.100779051C>T						SERPINE1_ENST00000445463.2_Silent_p.N337N	p.N352N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1213	+	Lung NSC(181;0.136)|all_lung(186;0.182)		352					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1056C>T	CCDS5711.1																																																																																				0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		52	310	0	0	0	1	0	52	310				
KRT6A	3853	broad.mit.edu	37	12	52886914	52886914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52886914G>A	ENST00000330722.6	-	1	127	c.59C>T	c.(58-60)gCc>gTc	p.A20V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	20	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGAGTTGGCACTGAAACC	0.647																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(58-60)gCc>gTc		keratin 6A							21.0	27.0	25.0					12																	52886914		2187	4275	6462	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52886914G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.59C>T	12.37:g.52886914G>A	ENSP00000369317:p.Ala20Val						p.A20V	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	127	-			20			Head.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.59C>T	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035418	0.35893	.	.	ENSG00000205420	ENST00000330722	T	0.60797	0.16	5.24	5.24	0.73138	.	0.565980	0.16908	N	0.194583	T	0.58495	0.2126	L	0.56769	1.78	0.09310	N	0.999999	B	0.16603	0.018	B	0.19391	0.025	T	0.49707	-0.8911	10	0.37606	T	0.19	.	19.2638	0.93979	0.0:0.0:1.0:0.0	.	20	P02538	K2C6A_HUMAN	V	20	ENSP00000369317:A20V	ENSP00000369317:A20V	A	-	2	0	KRT6A	51173181	0.998000	0.40836	0.282000	0.24776	0.297000	0.27493	6.746000	0.74866	2.626000	0.88956	0.549000	0.68633	GCC		0.647	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		58	270	0	0	0	1	0	58	270				
MYO1F	4542	broad.mit.edu	37	19	8595095	8595095	+	Silent	SNP	G	G	A	rs374767520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8595095G>A	ENST00000338257.8	-	21	2580	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	771	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCGGCGGTCGTACTTGGTGA	0.652																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2311-2313)taC>taT		myosin IF		G		0,4320		0,0,2160	67.0	78.0	74.0		2313	-3.2	1.0	19		74	6,8438		0,6,4216	no	coding-synonymous	MYO1F	NM_012335.3		0,6,6376	AA,AG,GG		0.0711,0.0,0.047		771/1099	8595095	6,12758	2160	4222	6382	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595095G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2313C>T	19.37:g.8595095G>A							p.Y771Y	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			21	2580	-			771					Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.2313C>T	CCDS42494.1																																																																																				0.652	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			151	659	0	0	0	1	0	151	659				
PDIA4	9601	broad.mit.edu	37	7	148718166	148718166	+	Silent	SNP	G	G	A	rs374207775		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148718166G>A	ENST00000286091.4	-	2	394	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	54	Asp/Glu-rich (acidic).|Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTCCAAGTCGtcttcttcct	0.418																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(160-162)gaC>gaT		protein disulfide isomerase family A, member 4		G		1,4405	2.1+/-5.4	0,1,2202	191.0	175.0	180.0		162	-9.5	0.0	7		180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDIA4	NM_004911.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		54/646	148718166	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718166G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.162C>T	7.37:g.148718166G>A							p.D54D	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	394	-	Melanoma(164;0.15)		54			Asp/Glu-rich (acidic).|Thioredoxin 1.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.162C>T	CCDS5893.1																																																																																				0.418	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		25	118	0	0	0	1	0	25	118				
HSPD1	3329	broad.mit.edu	37	2	198363569	198363569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363569G>A	ENST00000388968.3	-	2	271	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F|HSPE1_ENST00000409468.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	2					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GGTAACCGAAGCATTTCTGGG	0.512																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(4-6)Ctt>Ttt		heat shock 60kDa protein 1 (chaperonin)							40.0	37.0	38.0					2																	198363569		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198363569G>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.4C>T	2.37:g.198363569G>A	ENSP00000373620:p.Leu2Phe					HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F|HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F	p.L2F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		2	271	-			2					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.4C>T	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962992	0.53507	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605;ENST00000418022	T;T;T;T;T;T;T;T;T	0.77358	-0.45;-0.45;-0.1;-0.1;-0.1;-0.83;-1.07;-1.07;-1.09	4.87	4.87	0.63330	.	0.059874	0.64402	D	0.000002	T	0.59824	0.2222	N	0.04724	-0.175	0.53688	D	0.999974	B;B;B;B	0.13145	0.007;0.001;0.001;0.002	B;B;B;B	0.15052	0.012;0.005;0.005;0.003	T	0.55866	-0.8073	10	0.15952	T	0.53	-4.9447	18.3608	0.90374	0.0:0.0:1.0:0.0	.	2;2;2;2	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	F	2;2;2;2;2;44;2;2;2	ENSP00000373620:L2F;ENSP00000340019:L2F;ENSP00000393670:L2F;ENSP00000412717:L2F;ENSP00000441296:L2F;ENSP00000414446:L44F;ENSP00000396460:L2F;ENSP00000402478:L2F;ENSP00000412227:L2F	ENSP00000340019:L2F	L	-	1	0	HSPD1	198071814	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.311000	0.72835	2.414000	0.81942	0.585000	0.79938	CTT		0.512	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		36	174	0	0	0	1	0	36	174				
KCNQ2	3785	broad.mit.edu	37	20	62065214	62065214	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62065214G>T	ENST00000359125.2	-	8	1240	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	KCNQ2_ENST00000344462.4_Missense_Mutation_p.L356M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	356					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTGGAGTGCAGGTCTGTGCGC	0.627																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1066-1068)Ctg>Atg		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						129.0	106.0	114.0					20																	62065214		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62065214G>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1066C>A	20.37:g.62065214G>T	ENSP00000352035:p.Leu356Met					KCNQ2_ENST00000359125.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000430658.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000370226.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000370222.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344462.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000370221.1_Missense_Mutation_p.L356M	p.L356M			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		8	1242	-	all_cancers(38;1.24e-11)		356					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1066C>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720439	0.89205	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99298	-5.47;-5.61;-5.61;-5.45;-5.63;-5.47;-5.51;-5.57;-5.45;-5.53;-5.71;-5.24	4.93	2.97	0.34412	.	0.000000	0.53938	D	0.000054	D	0.98607	0.9534	L	0.42245	1.32	0.51482	D	0.999927	D;B;D;D;D;D	0.62365	0.987;0.451;0.991;0.984;0.958;0.973	P;B;P;P;P;P	0.61800	0.601;0.126;0.894;0.894;0.793;0.786	D	0.98376	1.0556	10	0.72032	D	0.01	-32.1885	10.1405	0.42732	0.1606:0.0:0.8394:0.0	.	356;356;356;356;356;356	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	M	356	ENSP00000349789:L356M;ENSP00000352035:L356M;ENSP00000359246:L356M;ENSP00000346601:L356M;ENSP00000352718:L356M;ENSP00000399612:L356M;ENSP00000353668:L356M;ENSP00000339611:L356M;ENSP00000359244:L356M;ENSP00000359242:L356M;ENSP00000359241:L356M;ENSP00000345523:L356M	ENSP00000345523:L356M	L	-	1	2	KCNQ2	61535658	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.238000	0.58688	1.089000	0.41292	0.655000	0.94253	CTG		0.627	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		102	430	1	0	1.09269e-41	1	1.32845e-41	102	430				
RP13-60M5.2	0	broad.mit.edu	37	9	91262358	91262358	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91262358C>T	ENST00000418343.2	-	0	393																											GAAGATGACACGCTGGCCAGC	0.433																																						ENST00000418343.2																			0																				73.0	76.0	75.0					9																	91262358		1937	4149	6086			0							g.chr9:91262358C>T																													9.37:g.91262358C>T														0	393	-									RNA	SNP	ENST00000418343.2	37																																																																																						0.433	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2			20	219	0	0	0	1	0	20	219				
SUV420H1	51111	broad.mit.edu	37	11	67925796	67925796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925796C>T	ENST00000304363.4	-	11	2370	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	673					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAACAACCGACGGGTGAAGGA	0.493																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2017-2019)Gtc>Atc		suppressor of variegation 4-20 homolog 1 (Drosophila)							90.0	80.0	84.0					11																	67925796		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925796C>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2017G>A	11.37:g.67925796C>T	ENSP00000305899:p.Val673Ile						p.V673I	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2370	-			673					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2017G>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150346	0.57151	.	.	ENSG00000110066	ENST00000304363	T	0.44881	0.91	5.04	4.13	0.48395	.	0.701645	0.13851	N	0.358378	T	0.29524	0.0736	N	0.19112	0.55	0.47476	D	0.999434	B	0.27700	0.186	B	0.17098	0.017	T	0.10154	-1.0642	10	0.59425	D	0.04	-2.9363	13.4694	0.61273	0.0:0.925:0.0:0.075	.	673	Q4FZB7	SV421_HUMAN	I	673	ENSP00000305899:V673I	ENSP00000305899:V673I	V	-	1	0	SUV420H1	67682372	0.001000	0.12720	0.012000	0.15200	0.467000	0.32768	0.865000	0.27940	1.362000	0.46000	-0.339000	0.08088	GTC		0.493	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		40	242	0	0	0	1	0	40	242				
KIAA1109	84162	broad.mit.edu	37	4	123277838	123277838	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123277838G>A	ENST00000264501.4	+	84	14936	c.14563G>A	c.(14563-14565)Gtg>Atg	p.V4855M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M			Q2LD37	K1109_HUMAN	KIAA1109	4855					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCACATTTGTGTGACTATGGA	0.358																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14563-14565)Gtg>Atg		KIAA1109							160.0	154.0	156.0					4																	123277838		1909	4124	6033	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123277838G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14563G>A	4.37:g.123277838G>A	ENSP00000264501:p.Val4855Met					KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M	p.V4855M			Q2LD37	K1109_HUMAN			84	14936	+			4855					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14563G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379860	0.95945	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.57436	0.4;0.4;0.4	5.9	5.9	0.94986	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.74951	-0.3489	10	0.87932	D	0	.	20.2861	0.98535	0.0:0.0:1.0:0.0	.	4854;4855	Q2LD37-4;Q2LD37	.;K1109_HUMAN	M	4855;4855;1524;456	ENSP00000264501:V4855M;ENSP00000373390:V4855M;ENSP00000410874:V1524M	ENSP00000264501:V4855M	V	+	1	0	KIAA1109	123497288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.800000	0.96347	0.655000	0.94253	GTG		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		66	328	0	0	0	1	0	66	328				
TBC1D8	11138	broad.mit.edu	37	2	101624689	101624689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624689T>C	ENST00000376840.4	-	20	3016	c.3017A>G	c.(3016-3018)gAa>gGa	p.E1006G	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.E1021G			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1006					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTGGATCTTCATGGAACAT	0.468																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(3061-3063)gAa>gGa		TBC1 domain family, member 8 (with GRAM domain)							32.0	37.0	35.0					2																	101624689		2050	4217	6267	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101624689T>C	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3017A>G	2.37:g.101624689T>C	ENSP00000366036:p.Glu1006Gly					RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1006G|RPL31_ENST00000409650.1_Intron	p.E1021G	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			20	3192	-			1006					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.3062A>G	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676379	0.29783	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03358	3.97;3.96	5.29	5.29	0.74685	.	0.090866	0.47455	D	0.000223	T	0.03477	0.0100	L	0.31804	0.96	0.23809	N	0.996785	B	0.06786	0.001	B	0.08055	0.003	T	0.39375	-0.9617	10	0.31617	T	0.26	-12.8241	9.7618	0.40537	0.0:0.0771:0.0:0.9229	.	1006	O95759	TBCD8_HUMAN	G	1006;1021	ENSP00000366036:E1006G;ENSP00000386856:E1021G	ENSP00000366036:E1006G	E	-	2	0	TBC1D8	100991121	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	2.879000	0.48522	1.984000	0.57885	0.529000	0.55759	GAA		0.468	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		43	108	0	0	0	1	0	43	108				
VWA3A	146177	broad.mit.edu	37	16	22163834	22163834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22163834C>T	ENST00000389398.5	+	31	3380	c.3284C>T	c.(3283-3285)gCg>gTg	p.A1095V	VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V|VWA3A_ENST00000389397.4_Missense_Mutation_p.A197V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1095	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTTCCAGAGCGGCGGTTGAG	0.587																																						ENST00000389397.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(589-591)gCg>gTg		von Willebrand factor A domain containing 3A																																				SO:0001583	missense	146177					extracellular region		g.chr16:22163834C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3284C>T	16.37:g.22163834C>T	ENSP00000374049:p.Ala1095Val					VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V|VWA3A_ENST00000389398.5_Missense_Mutation_p.A1095V	p.A197V			A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	32	3452	+			1095					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.590C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783587	0.31593	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.10192	2.9;2.9	5.41	0.262	0.15597	von Willebrand factor, type A (3);	1.334680	0.04516	N	0.383827	T	0.04137	0.0115	N	0.10733	0.035	0.09310	N	1	B;B	0.33379	0.209;0.41	B;B	0.22601	0.031;0.04	T	0.32508	-0.9904	10	0.18276	T	0.48	.	2.3963	0.04390	0.4702:0.2698:0.1533:0.1067	.	1095;197	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	V	1095;197;718	ENSP00000374049:A1095V;ENSP00000374048:A197V	ENSP00000299840:A718V	A	+	2	0	VWA3A	22071335	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.023000	0.12456	0.263000	0.21812	0.655000	0.94253	GCG		0.587	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			23	104	0	0	0	1	0	23	104				
HTR4	3360	broad.mit.edu	37	5	147929756	147929756	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147929756C>A	ENST00000377888.3	-	3	234	c.96G>T	c.(94-96)atG>atT	p.M32I	HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000360693.3_Missense_Mutation_p.M32I|HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	32					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CCAAGATGGCCATCAGGATAA	0.537																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(94-96)atG>atT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						143.0	102.0	116.0					5																	147929756		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147929756C>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.96G>T	5.37:g.147929756C>A	ENSP00000367120:p.Met32Ile					HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000377888.3_Missense_Mutation_p.M32I|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I	p.M32I	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	234	-			32					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.96G>T	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131491	0.77549	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.24115	0.695	0.52099	D	0.999943	P;B;P;B;P;P;P	0.44690	0.754;0.434;0.459;0.42;0.841;0.749;0.754	B;B;B;B;B;B;B	0.40825	0.184;0.13;0.269;0.312;0.228;0.341;0.184	T	0.05146	-1.0903	10	0.28530	T	0.3	.	17.7437	0.88414	0.0:1.0:0.0:0.0	.	32;32;32;32;32;32;32	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	I	32	ENSP00000428320:M32I;ENSP00000346156:M32I;ENSP00000314906:M32I;ENSP00000430979:M32I;ENSP00000435904:M32I;ENSP00000427913:M32I;ENSP00000367120:M32I;ENSP00000353915:M32I;ENSP00000355037:M32I	ENSP00000314906:M32I	M	-	3	0	HTR4	147909949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.888000	0.69758	2.538000	0.85594	0.555000	0.69702	ATG		0.537	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		55	229	1	0	1.38909e-20	1	1.55765e-20	55	229				
BNIP3L	665	broad.mit.edu	37	8	26265551	26265551	+	Silent	SNP	C	C	T	rs201574024		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26265551C>T	ENST00000380629.2	+	4	626	c.393C>T	c.(391-393)gtC>gtT	p.V131V	BNIP3L_ENST00000518611.1_Silent_p.V91V|BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000520409.1_Silent_p.V91V|BNIP3L_ENST00000523515.1_Silent_p.V91V	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	131					defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		AGAAGGAAGTCGAGGCTTTGA	0.403																																						ENST00000380629.2																			0				large_intestine(3)|lung(1)	4						c.(391-393)gtC>gtT		BCL2/adenovirus E1B 19kDa interacting protein 3-like							97.0	91.0	93.0					8																	26265551		2203	4300	6503	SO:0001819	synonymous_variant	665				apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:26265551C>T	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433	ENST00000380629.2:c.393C>T	8.37:g.26265551C>T						BNIP3L_ENST00000520409.1_Silent_p.V91V|BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000523515.1_Silent_p.V91V|BNIP3L_ENST00000518611.1_Silent_p.V91V	p.V131V	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)	4	626	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	131					B0AZS9|Q5JW63|Q8NF87	Silent	SNP	ENST00000380629.2	37	c.393C>T	CCDS6050.1																																																																																				0.403	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		7	265	0	0	0	1	0	7	265				
SLC1A6	6511	broad.mit.edu	37	19	15065121	15065121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15065121G>A	ENST00000221742.3	-	7	1197	c.1190C>T	c.(1189-1191)aCc>aTc	p.T397I	SLC1A6_ENST00000430939.2_Missense_Mutation_p.T333I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	397					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCAGCGGAAGGTGATGGGCAG	0.692																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(997-999)aCc>aTc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						50.0	47.0	48.0					19																	15065121		2203	4299	6502	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15065121G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1190C>T	19.37:g.15065121G>A	ENSP00000221742:p.Thr397Ile					SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T397I	p.T333I			P48664	EAA4_HUMAN			7	1127	-			397					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.998C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.714401	0.89112	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.61742	0.37;0.08	4.52	4.52	0.55395	.	0.161650	0.53938	D	0.000041	T	0.77968	0.4210	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.82028	-0.0660	10	0.87932	D	0	-31.7608	15.1319	0.72530	0.0:0.0:1.0:0.0	.	333;397	E7EV13;P48664	.;EAA4_HUMAN	I	333;397	ENSP00000409386:T333I;ENSP00000221742:T397I	ENSP00000221742:T397I	T	-	2	0	SLC1A6	14926121	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.636000	0.83301	2.518000	0.84900	0.546000	0.68486	ACC		0.692	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		83	353	0	0	0	1	0	83	353				
PIAS3	10401	broad.mit.edu	37	1	145584278	145584278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145584278G>A	ENST00000393045.2	+	11	1519	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	477					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCATCCCGGCCCTACCTGG	0.488																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1429-1431)Gcc>Acc		protein inhibitor of activated STAT, 3							89.0	94.0	93.0					1																	145584278		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584278G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1429G>A	1.37:g.145584278G>A	ENSP00000376765:p.Ala477Thr					PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	p.A477T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			11	1519	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		477					Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.1429G>A	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816415	0.16607	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.30448	1.53;1.53	5.64	3.8	0.43715	.	0.197182	0.35151	N	0.003403	T	0.06554	0.0168	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18967	-1.0320	10	0.08381	T	0.77	-8.8419	5.2502	0.15517	0.1643:0.0:0.6728:0.1629	.	477	Q9Y6X2	PIAS3_HUMAN	T	477;442	ENSP00000376765:A477T;ENSP00000358304:A442T	ENSP00000358304:A442T	A	+	1	0	PIAS3	144295635	0.629000	0.27146	0.579000	0.28588	0.835000	0.47333	1.000000	0.29770	0.954000	0.37851	-0.142000	0.14014	GCC		0.488	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		137	505	0	0	0	1	0	137	505				
TNKS	8658	broad.mit.edu	37	8	9623794	9623794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623794G>A	ENST00000310430.6	+	25	3625	c.3599G>A	c.(3598-3600)cGa>cAa	p.R1200Q	TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1200	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R1200Q(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTGATGAGCGACATGCATAC	0.383																																						ENST00000310430.6																			2	Substitution - Missense(2)	p.R1200Q(2)	lung(2)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3598-3600)cGa>cAa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							105.0	104.0	104.0					8																	9623794		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9623794G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3599G>A	8.37:g.9623794G>A	ENSP00000311579:p.Arg1200Gln					TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	p.R1200Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	25	3625	+			1200			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3599G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	36	5.633902	0.96682	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14266	2.52;2.52	5.98	5.98	0.97165	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	P	0.49192	0.602	T	0.02093	-1.1215	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1200	O95271	TNKS1_HUMAN	Q	1200;963	ENSP00000311579:R1200Q;ENSP00000429890:R963Q	ENSP00000311579:R1200Q	R	+	2	0	TNKS	9661204	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	CGA		0.383	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		95	458	0	0	0	1	0	95	458				
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A	rs541728237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	215						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582																																						ENST00000333449.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(643-645)cGc>cAc		transmembrane protein 179B							72.0	66.0	68.0					11																	62557503		2201	4299	6500	SO:0001583	missense	374395					integral to membrane		g.chr11:62557503G>A	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.644G>A	11.37:g.62557503G>A	ENSP00000333697:p.Arg215His					TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	p.R215H	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN			5	649	+			215						Missense_Mutation	SNP	ENST00000333449.4	37	c.644G>A	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011836	0.35511	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	0.137	0.14787	.	0.584731	0.18530	N	0.138524	T	0.26011	0.0634	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.12604	-1.0541	9	0.38643	T	0.18	.	5.2072	0.15297	0.3189:0.1704:0.5107:0.0	.	215	Q7Z7N9	T179B_HUMAN	H	215	.	ENSP00000333697:R215H	R	+	2	0	TMEM179B	62314079	0.000000	0.05858	0.003000	0.11579	0.841000	0.47740	-0.382000	0.07408	-0.216000	0.10048	0.561000	0.74099	CGC		0.582	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		67	232	0	0	0	1	0	67	232				
ZMAT1	84460	broad.mit.edu	37	X	101141638	101141638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101141638G>A	ENST00000372782.3	-	6	618	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	191						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATGTGGGACCGGAACATATCT	0.348																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(571-573)Cgg>Tgg		zinc finger, matrin-type 1							137.0	115.0	123.0					X																	101141638		2202	4300	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101141638G>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.571C>T	X.37:g.101141638G>A	ENSP00000361868:p.Arg191Trp					ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W	p.R191W	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			6	618	-			20					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.571C>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680189	0.47886	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.45668	1.86;1.86;0.89	4.94	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.360719	0.20577	N	0.089616	T	0.36220	0.0959	L	0.47716	1.5	0.36786	D	0.884615	B	0.15473	0.013	B	0.14578	0.011	T	0.40590	-0.9555	10	0.87932	D	0	-0.1043	10.11	0.42557	0.0995:0.0:0.9005:0.0	.	191	Q5H9K5	ZMAT1_HUMAN	W	191;191;20	ENSP00000361868:R191W;ENSP00000437529:R191W;ENSP00000413044:R20W	ENSP00000361868:R191W	R	-	1	2	ZMAT1	101028294	1.000000	0.71417	0.953000	0.39169	0.968000	0.65278	4.378000	0.59568	1.201000	0.43203	0.594000	0.82650	CGG		0.348	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			33	127	0	0	0	1	0	33	127				
LPHN2	23266	broad.mit.edu	37	1	82450958	82450958	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82450958A>G	ENST00000370728.1	+	23	4060	c.3415A>G	c.(3415-3417)Atg>Gtg	p.M1139V	LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V			O95490	LPHN2_HUMAN	latrophilin 2	1139					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATAAGAAGAATGTGGAATGA	0.318																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3415-3417)Atg>Gtg		latrophilin 2							90.0	93.0	92.0					1																	82450958		2203	4296	6499	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82450958A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3415A>G	1.37:g.82450958A>G	ENSP00000359763:p.Met1139Val					LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V	p.M1139V			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	23	4060	+			1139					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3415A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.025844|4.025844	0.75390|0.75390	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71579|.	-0.54;-0.58;-0.48;-0.42;-0.52;-0.47;-0.44;-0.4;-0.44;-0.52;-0.47;-0.42;-0.48|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.087808|.	0.85682|.	D|.	0.000000|.	T|T	0.67702|0.67702	0.2921|0.2921	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.76494|.	0.993;0.999|.	D;D|.	0.81914|.	0.981;0.995|.	T|T	0.69914|0.69914	-0.5016|-0.5016	10|5	0.44086|.	T|.	0.13|.	.|.	15.0867|15.0867	0.72158|0.72158	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1126;1126|.	O95490-4;O95490-2|.	.;.|.	V|S	1064;1139;1139;1154;1154;1141;1126;1126;1126;1154;1141;1154;1139|144	ENSP00000359756:M1064V;ENSP00000359763:M1139V;ENSP00000359765:M1139V;ENSP00000359762:M1154V;ENSP00000359760:M1154V;ENSP00000359758:M1141V;ENSP00000353006:M1126V;ENSP00000359750:M1126V;ENSP00000322270:M1126V;ENSP00000359752:M1154V;ENSP00000378344:M1141V;ENSP00000271029:M1154V;ENSP00000337306:M1139V|.	ENSP00000271029:M1154V|.	M|N	+|+	1|2	0|0	LPHN2|LPHN2	82223546|82223546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.287000|9.287000	0.95975|0.95975	2.033000|2.033000	0.60031|0.60031	0.397000|0.397000	0.26171|0.26171	ATG|AAT		0.318	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		6	261	0	0	0	1	0	6	261				
CHRNE	1145	broad.mit.edu	37	17	4804099	4804099	+	Silent	SNP	C	C	T	rs374156332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4804099C>T	ENST00000293780.4	-	8	916	c.906G>A	c.(904-906)ccG>ccA	p.P302P	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	302					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TGCCCAGGAGCGGCACGCTCA	0.632																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						c.(904-906)ccG>ccA		cholinergic receptor, nicotinic, epsilon (muscle)		C	,	1,4405		0,1,2202	41.0	42.0	41.0		906,	-3.9	1.0	17		41	0,8600		0,0,4300	no	coding-synonymous,utr-3	CHRNE,C17orf107	NM_000080.3,NM_001145536.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	302/494,	4804099	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4804099C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.906G>A	17.37:g.4804099C>T						C17orf107_ENST00000381365.3_3'UTR	p.P302P	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			8	916	-			302					D3DTK6	Silent	SNP	ENST00000293780.4	37	c.906G>A	CCDS11058.1																																																																																				0.632	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			30	128	0	0	0	1	0	30	128				
MEGF10	84466	broad.mit.edu	37	5	126771137	126771137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126771137C>T	ENST00000274473.6	+	17	2327	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	687	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATTGACAGATCTTGTCAGTGT	0.413																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2059-2061)tCt>tTt		multiple EGF-like-domains 10							119.0	98.0	105.0					5																	126771137		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771137C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2060C>T	5.37:g.126771137C>T	ENSP00000274473:p.Ser687Phe					MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	p.S687F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2327	+		Prostate(80;0.165)	687			EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2060C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254404	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56941	0.43;0.43	6.04	6.04	0.98038	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.77054	0.4074	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65233	0.933	T	0.78226	-0.2286	10	0.56958	D	0.05	-22.7363	20.5948	0.99439	0.0:1.0:0.0:0.0	.	687	Q96KG7	MEG10_HUMAN	F	687	ENSP00000423354:S687F;ENSP00000274473:S687F	ENSP00000274473:S687F	S	+	2	0	MEGF10	126799036	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	7.747000	0.85070	2.873000	0.98535	0.563000	0.77884	TCT		0.413	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		32	129	0	0	0	1	0	32	129				
LAMA1	284217	broad.mit.edu	37	18	7034541	7034541	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7034541A>G	ENST00000389658.3	-	14	2081	c.1988T>C	c.(1987-1989)cTt>cCt	p.L663P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	663	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACATTGGCAAGGACAGTCAT	0.408																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1987-1989)cTt>cCt		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						153.0	141.0	145.0					18																	7034541		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7034541A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1988T>C	18.37:g.7034541A>G	ENSP00000374309:p.Leu663Pro						p.L663P	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			14	2081	-		Colorectal(10;0.172)	663			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1988T>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418436	0.83559	.	.	ENSG00000101680	ENST00000389658	T	0.65364	-0.15	5.9	5.9	0.94986	Laminin B type IV (2);Laminin B, subgroup (1);	0.070910	0.56097	D	0.000021	D	0.83519	0.5272	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86760	0.1966	10	0.59425	D	0.04	.	16.3283	0.82996	1.0:0.0:0.0:0.0	.	663	P25391	LAMA1_HUMAN	P	663	ENSP00000374309:L663P	ENSP00000374309:L663P	L	-	2	0	LAMA1	7024541	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	8.175000	0.89684	2.257000	0.74773	0.533000	0.62120	CTT		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		18	374	0	0	0	1	0	18	374				
TGFBRAP1	9392	broad.mit.edu	37	2	105915065	105915065	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105915065C>T	ENST00000393359.2	-	3	1212	c.786G>A	c.(784-786)gcG>gcA	p.A262A	TGFBRAP1_ENST00000258449.1_Silent_p.A262A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	262	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.A262A(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGTCATCGAGCGCTATGACGT	0.542																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			1	Substitution - coding silent(1)	p.A262A(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(784-786)gcG>gcA		transforming growth factor, beta receptor associated protein 1							106.0	96.0	99.0					2																	105915065		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105915065C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.786G>A	2.37:g.105915065C>T						TGFBRAP1_ENST00000258449.1_Silent_p.A262A	p.A262A			Q8WUH2	TGFA1_HUMAN			3	1212	-			262			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.786G>A	CCDS2067.1																																																																																				0.542	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		126	351	0	0	0	1	0	126	351				
ZNF423	23090	broad.mit.edu	37	16	49670091	49670091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49670091C>T	ENST00000561648.1	-	4	3025	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	991					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTGCAGATGCGACAGGTGCC	0.597																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2971-2973)cGc>cAc		zinc finger protein 423							55.0	50.0	51.0					16																	49670091		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670091C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2972G>A	16.37:g.49670091C>T	ENSP00000455426:p.Arg991His					ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H	p.R991H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3025	-		all_cancers(37;0.0155)	991					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2972G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523857	0.85600	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09911	2.93;2.97	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.24115	0.695	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.07501	-1.0769	9	.	.	.	-48.8797	17.8857	0.88854	0.0:1.0:0.0:0.0	.	991	Q2M1K9	ZN423_HUMAN	H	991;874	ENSP00000262383:R991H;ENSP00000442321:R874H	.	R	-	2	0	ZNF423	48227592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.234000	0.73211	0.561000	0.74099	CGC		0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		40	177	0	0	0	1	0	40	177				
DPM3	54344	broad.mit.edu	37	1	155112460	155112460	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155112460G>A	ENST00000341298.3	-	2	392	c.257C>T	c.(256-258)gCc>gTc	p.A86V	DPM3_ENST00000368399.1_Missense_Mutation_p.A116V|DPM3_ENST00000368400.4_Missense_Mutation_p.A86V			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	86					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCCTGCGGGCTAAGTCGGC	0.587																																						ENST00000368399.1																			0				endometrium(2)	2						c.(346-348)gCc>gTc		dolichyl-phosphate mannosyltransferase polypeptide 3							54.0	60.0	58.0					1																	155112460		2203	4300	6503	SO:0001583	missense	54344				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding	g.chr1:155112460G>A	AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.257C>T	1.37:g.155112460G>A	ENSP00000344338:p.Ala86Val					DPM3_ENST00000368400.4_Missense_Mutation_p.A86V|DPM3_ENST00000341298.3_Missense_Mutation_p.A86V	p.A116V	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	423	-	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		86					Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Missense_Mutation	SNP	ENST00000341298.3	37	c.347C>T	CCDS1095.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569405	0.45798	.	.	ENSG00000179085	ENST00000368399;ENST00000368400;ENST00000341298	T;T;T	0.77489	-1.1;-1.1;-1.1	4.8	2.93	0.34026	.	0.496026	0.21280	N	0.077179	T	0.64472	0.2601	L	0.50333	1.59	0.32035	N	0.598941	B;D	0.53312	0.062;0.959	B;P	0.49922	0.081;0.626	T	0.60352	-0.7280	10	0.39692	T	0.17	0.0123	8.8551	0.35223	0.1834:0.0:0.8166:0.0	.	86;162	Q9P2X0;B4DEH1	DPM3_HUMAN;.	V	116;86;86	ENSP00000357384:A116V;ENSP00000357385:A86V;ENSP00000344338:A86V	ENSP00000344338:A86V	A	-	2	0	DPM3	153379084	0.241000	0.23857	0.840000	0.33206	0.821000	0.46438	0.524000	0.22940	0.635000	0.30488	-0.140000	0.14226	GCC		0.587	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085519.1	NM_153741		119	458	0	0	0	1	0	119	458				
CERS5	91012	broad.mit.edu	37	12	50536960	50536960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50536960G>T	ENST00000317551.6	-	3	455	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	CERS5_ENST00000422340.2_Missense_Mutation_p.L53M	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	111					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGCTTTGACAGGCCCTCCAGC	0.483																																						ENST00000317551.6																			0											c.(331-333)Ctg>Atg		ceramide synthase 5							136.0	141.0	139.0					12																	50536960		2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50536960G>T		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.331C>A	12.37:g.50536960G>T	ENSP00000325485:p.Leu111Met					CERS5_ENST00000422340.2_Missense_Mutation_p.L53M	p.L111M	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			3	455	-			111					B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.331C>A	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589259	0.66105	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.98345	-3.01;-4.88;-4.88	4.53	4.53	0.55603	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.98960	0.9646	H	0.94423	3.535	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.99482	1.0948	10	0.87932	D	0	-7.5724	5.6363	0.17538	0.2401:0.0:0.7599:0.0	.	53;111;30	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	M	30;111;53	ENSP00000447556:L30M;ENSP00000325485:L111M;ENSP00000389050:L53M	ENSP00000325485:L111M	L	-	1	2	CERS5	48823227	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.189000	0.42621	2.518000	0.84900	0.655000	0.94253	CTG		0.483	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		160	724	1	0	3.53118e-72	1	4.4917e-72	160	724				
DOCK10	55619	broad.mit.edu	37	2	225639794	225639794	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225639794G>A	ENST00000258390.7	-	52	5908	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I	DOCK10_ENST00000409592.3_Silent_p.I1941I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1947	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTCACCTGGATGTAGGCAT	0.488																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5821-5823)atC>atT		dedicator of cytokinesis 10							85.0	85.0	85.0					2																	225639794		1975	4172	6147	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225639794G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5841C>T	2.37:g.225639794G>A						DOCK10_ENST00000258390.7_Silent_p.I1947I	p.I1941I			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	52	5936	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1947			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.5823C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278103	0.23307	.	.	ENSG00000135905	ENST00000535663	.	.	.	5.48	4.59	0.56863	.	.	.	.	.	T	0.63129	0.2485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61628	-0.7024	4	.	.	.	.	11.8314	0.52297	0.148:0.0:0.852:0.0	.	.	.	.	S	97	.	.	P	-	1	0	DOCK10	225348038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.350000	0.52224	1.413000	0.46997	0.563000	0.77884	CCA		0.488	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			46	150	0	0	0	1	0	46	150				
ATF6	22926	broad.mit.edu	37	1	161821543	161821543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161821543C>T	ENST00000367942.3	+	11	1418	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	451					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TGACAAAGCCCTGATGGTGCT	0.368																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1351-1353)Ctg>Ttg		activating transcription factor 6							215.0	195.0	202.0					1																	161821543		2203	4300	6503	SO:0001819	synonymous_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161821543C>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1351C>T	1.37:g.161821543C>T						ATF6_ENST00000476437.1_3'UTR	p.L451L	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		11	1418	+	all_hematologic(112;0.156)		451					O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	c.1351C>T	CCDS1235.1																																																																																				0.368	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		140	752	0	0	0	1	0	140	752				
RB1CC1	9821	broad.mit.edu	37	8	53596231	53596231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53596231G>A	ENST00000025008.5	-	5	770	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	83					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAGGTGGACGATCACATAAG	0.289																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(247-249)Cgt>Tgt		RB1-inducible coiled-coil 1							45.0	46.0	46.0					8																	53596231		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53596231G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.247C>T	8.37:g.53596231G>A	ENSP00000025008:p.Arg83Cys					RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C	p.R83C	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			5	770	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	83					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.247C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065391	0.93898	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710	T;T;T	0.15603	2.41;2.41;2.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.30001	-0.9993	10	0.72032	D	0.01	-5.836	19.3152	0.94208	0.0:0.0:1.0:0.0	.	83;83	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	C	83;83;83;31	ENSP00000025008:R83C;ENSP00000396067:R83C;ENSP00000445960:R83C	ENSP00000025008:R83C	R	-	1	0	RB1CC1	53758784	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.420000	0.97426	2.648000	0.89879	0.563000	0.77884	CGT		0.289	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		36	191	0	0	0	1	0	36	191				
DSP	1832	broad.mit.edu	37	6	7585624	7585624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7585624C>T	ENST00000379802.3	+	24	8470	c.8129C>T	c.(8128-8130)gCa>gTa	p.A2710V	DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2710	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGTCAGCAGCAGAGGCAGTG	0.552																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8128-8130)gCa>gTa		desmoplakin							134.0	136.0	135.0					6																	7585624		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585624C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8129C>T	6.37:g.7585624C>T	ENSP00000369129:p.Ala2710Val					DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	p.A2710V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8470	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2710			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8129C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179999	0.57800	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68479	-0.33;-0.33	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000008	T	0.73513	0.3596	M	0.62723	1.935	0.34917	D	0.748094	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.871	T	0.66893	-0.5808	10	0.16896	T	0.51	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	2158;2710	Q4LE79;P15924	.;DESP_HUMAN	V	2710;2111	ENSP00000369129:A2710V;ENSP00000396591:A2111V	ENSP00000369129:A2710V	A	+	2	0	DSP	7530623	1.000000	0.71417	0.908000	0.35775	0.422000	0.31414	6.055000	0.71103	2.818000	0.97014	0.655000	0.94253	GCA		0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		141	753	0	0	0	1	0	141	753				
VCAN	1462	broad.mit.edu	37	5	82837166	82837166	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82837166A>G	ENST00000265077.3	+	8	8909	c.8344A>G	c.(8344-8346)Att>Gtt	p.I2782V	VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2782	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTATCTAAGTATTGCTACTAC	0.438																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8344-8346)Att>Gtt		versican							105.0	97.0	100.0					5																	82837166		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837166A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8344A>G	5.37:g.82837166A>G	ENSP00000265077:p.Ile2782Val					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN-AS1_ENST00000512090.1_RNA	p.I2782V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8909	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2782			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8344A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	8.071	0.770228	0.15983	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.38722	1.12;1.12	6.17	5.0	0.66597	.	0.176773	0.40469	N	0.001084	T	0.33585	0.0868	L	0.43152	1.355	0.80722	D	1	B;B	0.23540	0.084;0.087	B;B	0.24006	0.05;0.033	T	0.12041	-1.0563	10	0.31617	T	0.26	.	9.6564	0.39928	0.8694:0.0:0.1306:0.0	.	1795;2782	P13611-2;P13611	.;CSPG2_HUMAN	V	2782;1795	ENSP00000265077:I2782V;ENSP00000340062:I1795V	ENSP00000265077:I2782V	I	+	1	0	VCAN	82872922	0.924000	0.31332	0.976000	0.42696	0.039000	0.13416	1.350000	0.34010	2.371000	0.80710	0.533000	0.62120	ATT		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		75	354	0	0	0	1	0	75	354				
MXRA5	25878	broad.mit.edu	37	X	3242815	3242815	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3242815C>A	ENST00000217939.6	-	5	1065	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	304						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGAGCTGGCTGCCACCATC	0.507																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(910-912)aGc>aTc		matrix-remodelling associated 5							108.0	90.0	96.0					X																	3242815		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242815C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.911G>T	X.37:g.3242815C>A	ENSP00000217939:p.Ser304Ile						p.S304I	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	1065	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	304					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.911G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.216203	0.01542	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.08	-3.76	0.04359	.	0.975648	0.08345	U	0.960274	T	0.36303	0.0962	N	0.19112	0.55	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.11060	-1.0603	10	0.22109	T	0.4	.	0.9037	0.01280	0.1445:0.2477:0.2838:0.324	.	304	Q9NR99	MXRA5_HUMAN	I	304	ENSP00000217939:S304I	ENSP00000217939:S304I	S	-	2	0	MXRA5	3252815	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.229000	0.02945	-1.964000	0.01012	-0.544000	0.04233	AGC		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		10	293	1	0	2.17888e-05	1	2.22852e-05	10	293				
TRPC6	7225	broad.mit.edu	37	11	101342042	101342042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342042G>A	ENST00000344327.3	-	9	2705	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S|TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	761					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGGTACAGGAAGTGTTCTG	0.438																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2281-2283)Cct>Tct		transient receptor potential cation channel, subfamily C, member 6							79.0	85.0	83.0					11																	101342042		2203	4298	6501	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101342042G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2281C>T	11.37:g.101342042G>A	ENSP00000340913:p.Pro761Ser					TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S	p.P761S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	9	2705	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	761					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2281C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897437	0.91962	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97184	0.9853	10	0.87932	D	0	-16.1746	19.7888	0.96450	0.0:0.0:1.0:0.0	.	706;645;761	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	761;683;645;706	ENSP00000340913:P761S;ENSP00000435574:P683S;ENSP00000343672:P645S;ENSP00000353687:P706S	ENSP00000340913:P761S	P	-	1	0	TRPC6	100847252	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.864000	0.99589	2.662000	0.90505	0.655000	0.94253	CCT		0.438	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		92	472	0	0	0	1	0	92	472				
DEPDC1B	55789	broad.mit.edu	37	5	59940639	59940639	+	Silent	SNP	C	C	T	rs141096982		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59940639C>T	ENST00000265036.5	-	5	709	c.642G>A	c.(640-642)tcG>tcA	p.S214S	DEPDC1B_ENST00000545085.1_Silent_p.S187S|DEPDC1B_ENST00000453022.2_Silent_p.S214S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	214	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TGATGAACTTCGAATTGACAA	0.303													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16621	0.0		0.0	False		,,,				2504	0.0					ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(640-642)tcG>tcA		DEP domain containing 1B		C	,	8,4398	14.3+/-33.2	0,8,2195	94.0	93.0	93.0		642,642	-0.7	1.0	5	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DEPDC1B	NM_001145208.1,NM_018369.2	,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,	214/468,214/530	59940639	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59940639C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.642G>A	5.37:g.59940639C>T						DEPDC1B_ENST00000453022.2_Silent_p.S214S|DEPDC1B_ENST00000545085.1_Silent_p.S187S	p.S214S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			5	709	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	214			Rho-GAP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	37	c.642G>A	CCDS3977.1																																																																																				0.303	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		37	199	0	0	0	1	0	37	199				
WFS1	7466	broad.mit.edu	37	4	6303910	6303910	+	Silent	SNP	C	C	T	rs71532868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303910C>T	ENST00000226760.1	+	8	2558	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	WFS1_ENST00000503569.1_Silent_p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	796					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGAGGAGGACGACGTCACCA	0.627																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2386-2388)gaC>gaT		Wolfram syndrome 1 (wolframin)							33.0	36.0	35.0					4																	6303910		2203	4298	6501	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303910C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2388C>T	4.37:g.6303910C>T						WFS1_ENST00000503569.1_Silent_p.D796D	p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2558	+			796					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.2388C>T	CCDS3386.1																																																																																				0.627	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			55	220	0	0	0	1	0	55	220				
SYT3	84258	broad.mit.edu	37	19	51128446	51128446	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51128446G>A	ENST00000338916.4	-	7	2313	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	SYT3_ENST00000600079.1_Silent_p.P560P|SYT3_ENST00000544769.1_Silent_p.P560P|SYT3_ENST00000593901.1_Silent_p.P560P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	560					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGTGCTCCACGGGCTTGCGGG	0.677																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1678-1680)ccC>ccT		synaptotagmin III							41.0	35.0	37.0					19																	51128446		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51128446G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1680C>T	19.37:g.51128446G>A						SYT3_ENST00000593901.1_Silent_p.P560P|SYT3_ENST00000544769.1_Silent_p.P560P|SYT3_ENST00000600079.1_Silent_p.P560P	p.P560P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	7	2313	-		all_neural(266;0.131)	560					Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.1680C>T	CCDS12798.1																																																																																				0.677	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		13	70	0	0	0	1	0	13	70				
TRIM3	10612	broad.mit.edu	37	11	6479076	6479076	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479076G>A	ENST00000525074.1	-	4	759	c.365C>T	c.(364-366)aCg>aTg	p.T122M	TRIM3_ENST00000345851.3_Splice_Site_p.T122M|TRIM3_ENST00000359518.3_Splice_Site_p.T122M|TRIM3_ENST00000537602.1_Splice_Site_p.T122M|TRIM3_ENST00000536344.1_Splice_Site_p.T3M|TRIM3_ENST00000529058.1_5'Flank	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	122					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTCCATCGTCTGCGGTAC	0.602																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.e4-1		tripartite motif containing 3							85.0	76.0	79.0					11																	6479076		2201	4296	6497	SO:0001630	splice_region_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479076G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.364-1C>T	11.37:g.6479076G>A						TRIM3_ENST00000536344.1_Splice_Site_p.T3_splice|TRIM3_ENST00000359518.3_Splice_Site_p.T122_splice|TRIM3_ENST00000537602.1_Splice_Site_p.T122_splice|TRIM3_ENST00000345851.3_Splice_Site_p.T122_splice	p.T122_splice	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	759	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	122					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Splice_Site	SNP	ENST00000525074.1	37	c.363_splice	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119405	0.37436	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.06	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.225856	0.46145	D	0.000306	T	0.36468	0.0968	N	0.11927	0.2	0.39543	D	0.968854	D;D;B	0.63046	0.992;0.984;0.367	P;P;B	0.57283	0.599;0.817;0.264	T	0.28839	-1.0031	10	0.46703	T	0.11	-3.5121	7.8979	0.29717	0.1767:0.0:0.8233:0.0	.	3;3;122	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	M	122;122;122;122;122;122;122;3;122	ENSP00000433102:T122M;ENSP00000340797:T122M;ENSP00000441091:T122M;ENSP00000352508:T122M;ENSP00000445460:T3M;ENSP00000433070:T122M	ENSP00000337094:T122M	T	-	2	0	TRIM3	6435652	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.699000	0.68310	2.345000	0.79718	0.462000	0.41574	ACG		0.602	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	Missense_Mutation	97	438	0	0	0	1	0	97	438				
GDPD5	81544	broad.mit.edu	37	11	75153439	75153439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153439G>T	ENST00000336898.3	-	12	1973	c.1136C>A	c.(1135-1137)gCc>gAc	p.A379D	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.A260D|GDPD5_ENST00000526177.1_Missense_Mutation_p.A241D|GDPD5_ENST00000533805.1_Missense_Mutation_p.A134D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000533784.1_Missense_Mutation_p.A260D	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	379	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTGCAGCACGGCCTCCAGAGT	0.672																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(721-723)gCc>gAc		glycerophosphodiester phosphodiesterase domain containing 5							23.0	22.0	22.0					11																	75153439		2188	4287	6475	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75153439G>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1136C>A	11.37:g.75153439G>T	ENSP00000337972:p.Ala379Asp					GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.A134D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000533784.1_Missense_Mutation_p.A260D|GDPD5_ENST00000376282.3_Missense_Mutation_p.A260D|GDPD5_ENST00000336898.3_Missense_Mutation_p.A379D	p.A241D			Q8WTR4	GDPD5_HUMAN			8	2600	-			379			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.722C>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.278002	0.59758	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	5.37	5.37	0.77165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.285067	0.39083	N	0.001475	T	0.22475	0.0542	L	0.36672	1.1	0.80722	D	1	D;P	0.55800	0.973;0.549	P;B	0.54100	0.742;0.194	T	0.00326	-1.1815	10	0.66056	D	0.02	-21.6643	16.6226	0.84934	0.0:0.0:1.0:0.0	.	260;379	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	D	241;260;379;379;134;260	ENSP00000434050:A241D;ENSP00000437049:A260D;ENSP00000433214:A379D;ENSP00000337972:A379D;ENSP00000435196:A134D;ENSP00000365459:A260D	ENSP00000337972:A379D	A	-	2	0	GDPD5	74831087	0.695000	0.27747	0.953000	0.39169	0.864000	0.49448	3.667000	0.54547	2.522000	0.85027	0.450000	0.29827	GCC		0.672	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		12	40	1	0	0.00136819	1	0.0013818	12	40				
COL7A1	1294	broad.mit.edu	37	3	48619008	48619008	+	Missense_Mutation	SNP	G	G	A	rs267599859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48619008G>A	ENST00000328333.8	-	49	4887	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1594	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGATTCACCCGGTCTCCAGGG	0.587																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4780-4782)Cgg>Tgg		collagen, type VII, alpha 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	106.0	104.0		4780	-2.0	0.2	3		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL7A1	NM_000094.3	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1594/2945	48619008	2,13004	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48619008G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4780C>T	3.37:g.48619008G>A	ENSP00000332371:p.Arg1594Trp					COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W	p.R1594W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	49	4887	-			1594			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4780C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454391	0.43634	2.27E-4	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94376	-3.41;-3.41	5.25	-1.97	0.07503	.	0.000000	0.42548	D	0.000689	D	0.95762	0.8621	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92216	0.5780	10	0.72032	D	0.01	.	15.715	0.77661	0.0:0.0:0.2756:0.7244	.	1594	Q02388	CO7A1_HUMAN	W	1594	ENSP00000332371:R1594W;ENSP00000412569:R1594W	ENSP00000332371:R1594W	R	-	1	2	COL7A1	48594012	0.393000	0.25237	0.249000	0.24280	0.176000	0.22953	0.247000	0.18179	-0.359000	0.08150	-0.183000	0.12914	CGG		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		94	357	0	0	0	1	0	94	357				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		15	412	0	0	0	1	0	15	412				
RCOR2	283248	broad.mit.edu	37	11	63676641	63676641	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63676641C>T	ENST00000301459.4	-	0	2604				MARK2_ENST00000350490.7_Missense_Mutation_p.R688W|MARK2_ENST00000402010.2_Missense_Mutation_p.R767W|MARK2_ENST00000413835.2_Missense_Mutation_p.R713W|MARK2_ENST00000377809.4_Missense_Mutation_p.R752W|MARK2_ENST00000377810.3_Missense_Mutation_p.R670W|MARK2_ENST00000425897.2_Missense_Mutation_p.R678W|MARK2_ENST00000361128.5_Missense_Mutation_p.R698W|MARK2_ENST00000508192.1_Missense_Mutation_p.R703W|MARK2_ENST00000513765.2_Missense_Mutation_p.R734W|MARK2_ENST00000502399.3_Missense_Mutation_p.R757W|RCOR2_ENST00000473926.2_5'Flank|MARK2_ENST00000408948.3_Missense_Mutation_p.R670W|MARK2_ENST00000509502.2_Missense_Mutation_p.R724W|MARK2_ENST00000315032.8_Missense_Mutation_p.R758W	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TCGATTTAAGCGGATATCGGG	0.612																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2299-2301)Cgg>Tgg		MAP/microtubule affinity-regulating kinase 2							83.0	77.0	79.0					11																	63676641		2201	4297	6498	SO:0001628	intergenic_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63676641C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676641C>T						MARK2_ENST00000350490.7_Missense_Mutation_p.R688W|MARK2_ENST00000361128.5_Missense_Mutation_p.R698W|MARK2_ENST00000509502.2_Missense_Mutation_p.R724W|MARK2_ENST00000502399.3_Missense_Mutation_p.R757W|MARK2_ENST00000377810.3_Missense_Mutation_p.R670W|MARK2_ENST00000513765.2_Missense_Mutation_p.R734W|MARK2_ENST00000508192.1_Missense_Mutation_p.R703W|MARK2_ENST00000425897.2_Missense_Mutation_p.R678W|MARK2_ENST00000377809.4_Missense_Mutation_p.R752W|MARK2_ENST00000408948.3_Missense_Mutation_p.R670W|MARK2_ENST00000315032.8_Missense_Mutation_p.R758W|MARK2_ENST00000413835.2_Missense_Mutation_p.R713W	p.R767W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			19	2878	+			767			KA1.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.2299C>T	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646942	0.67358	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	4.41	3.49	0.39957	Kinase-associated KA1 (4);	0.000000	0.64402	D	0.000001	T	0.81941	0.4929	M	0.91818	3.245	0.58432	D	0.999997	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;0.999;0.999;0.996;1.0;0.999	D	0.85909	0.1439	10	0.87932	D	0	.	13.0541	0.58969	0.1623:0.8377:0.0:0.0	.	678;724;688;698;767;703	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	W	767;758;752;713;670;703;698;688;759;724;734;670;678	ENSP00000385751:R767W;ENSP00000326632:R758W;ENSP00000367040:R752W;ENSP00000389184:R713W;ENSP00000367041:R670W;ENSP00000425765:R703W;ENSP00000355091:R698W;ENSP00000294247:R688W;ENSP00000423974:R724W;ENSP00000421075:R734W;ENSP00000386128:R670W;ENSP00000415494:R678W	ENSP00000326632:R758W	R	+	1	2	MARK2	63433217	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.703000	0.25646	1.203000	0.43233	0.542000	0.68232	CGG		0.612	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		76	424	0	0	0	1	0	76	424				
HTRA1	5654	broad.mit.edu	37	10	124268275	124268275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124268275G>A	ENST00000368984.3	+	6	1237	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	370	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCCCATGACCGACAGGCCAAA	0.527																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1108-1110)cGa>cAa		HtrA serine peptidase 1							76.0	79.0	78.0					10																	124268275		2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124268275G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1109G>A	10.37:g.124268275G>A	ENSP00000357980:p.Arg370Gln						p.R370Q	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			6	1237	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	370			PDZ.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.1109G>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241792	0.79912	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.15139	2.45;2.45	5.16	5.16	0.70880	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.69823	2.125	0.80722	D	1	P	0.49862	0.929	B	0.26969	0.075	T	0.26258	-1.0108	10	0.72032	D	0.01	-10.4162	18.6471	0.91415	0.0:0.0:1.0:0.0	.	370	Q92743	HTRA1_HUMAN	Q	370;337;111	ENSP00000357980:R370Q;ENSP00000412676:R111Q	ENSP00000357980:R370Q	R	+	2	0	HTRA1	124258265	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.620000	0.98373	2.410000	0.81850	0.655000	0.94253	CGA		0.527	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		11	463	0	0	0	1	0	11	463				
CCM2	83605	broad.mit.edu	37	7	45104190	45104190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45104190C>T	ENST00000258781.6	+	4	566	c.417C>T	c.(415-417)atC>atT	p.I139I	CCM2_ENST00000474617.1_Silent_p.I133I|CCM2_ENST00000475551.1_Silent_p.I133I|CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000544363.1_Silent_p.I139I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Silent_p.I160I	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	139	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATGACATCGCCGCCGTCT	0.597																																						ENST00000381112.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(478-480)atC>atT		cerebral cavernous malformation 2							86.0	55.0	66.0					7																	45104190		2203	4300	6503	SO:0001819	synonymous_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45104190C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.417C>T	7.37:g.45104190C>T						CCM2_ENST00000474617.1_Silent_p.I133I|CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000475551.1_Silent_p.I133I|CCM2_ENST00000258781.6_Silent_p.I139I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Silent_p.I139I	p.I160I	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN			4	1159	+			139			PID.		A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	37	c.480C>T	CCDS5500.1																																																																																				0.597	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		28	127	0	0	0	1	0	28	127				
SYNE2	23224	broad.mit.edu	37	14	64679654	64679654	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64679654C>T	ENST00000344113.4	+	105	19199	c.18987C>T	c.(18985-18987)ctC>ctT	p.L6329L	SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000554805.1_Silent_p.L112L|SYNE2_ENST00000554584.1_Silent_p.L6288L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.L2963L|SYNE2_ENST00000357395.3_Silent_p.L2714L|SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000358025.3_Silent_p.L6329L|SYNE2_ENST00000555022.1_Silent_p.L207L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6329					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGGAACTCCACCGCTACT	0.572																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8140-8142)ctC>ctT		spectrin repeat containing, nuclear envelope 2							93.0	91.0	92.0					14																	64679654		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64679654C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18987C>T	14.37:g.64679654C>T						SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000358025.3_Silent_p.L6329L|SYNE2_ENST00000555022.1_Silent_p.L207L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.L6329L|SYNE2_ENST00000554805.1_Silent_p.L112L|SYNE2_ENST00000555002.1_Silent_p.L2963L|SYNE2_ENST00000554584.1_Silent_p.L6288L	p.L2714L			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	106	19286	+			6329					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.8142C>T	CCDS41963.1																																																																																				0.572	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		105	373	0	0	0	1	0	105	373				
NUP107	57122	broad.mit.edu	37	12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	644					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1930-1932)cGa>cAa		nucleoporin 107kDa							63.0	66.0	65.0					12																	69125432		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69125432G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1931G>A	12.37:g.69125432G>A	ENSP00000229179:p.Arg644Gln					NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q	p.R644Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		22	2263	+	Breast(13;6.25e-06)		644					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1931G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805898	0.90623	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.59	5.59	0.84812	.	0.059343	0.64402	D	0.000003	T	0.69593	0.3128	M	0.73598	2.24	0.80722	D	1	P;P	0.45283	0.855;0.768	P;B	0.45119	0.47;0.346	T	0.70096	-0.4966	8	.	.	.	-0.1557	19.9688	0.97277	0.0:0.0:1.0:0.0	.	615;644	B4DZ67;P57740	.;NU107_HUMAN	Q	644;615	.	.	R	+	2	0	NUP107	67411699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.492000	0.73654	2.804000	0.96469	0.650000	0.86243	CGA		0.353	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		27	324	0	0	0	1	0	27	324				
PLK3	1263	broad.mit.edu	37	1	45270982	45270982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45270982G>A	ENST00000372201.4	+	14	1919	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	560					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TACCTGCTCCGCCCTTGCTGC	0.592																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1678-1680)ccG>ccA		polo-like kinase 3							175.0	137.0	150.0					1																	45270982		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270982G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1680G>A	1.37:g.45270982G>A						PLK3_ENST00000465443.1_3'UTR	p.P560P	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			14	1919	+	Acute lymphoblastic leukemia(166;0.155)		560					Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.1680G>A	CCDS515.1																																																																																				0.592	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		36	324	0	0	0	1	0	36	324				
NIN	51199	broad.mit.edu	37	14	51224357	51224357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224357G>A	ENST00000382041.3	-	18	3581	c.3391C>T	c.(3391-3393)Cga>Tga	p.R1131*	NIN_ENST00000245441.5_Nonsense_Mutation_p.R1131*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1131					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCTTCGTTCGGTTTTGCTGT	0.483			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(3391-3393)Cga>Tga		ninein (GSK3B interacting protein)							156.0	147.0	150.0					14																	51224357		2203	4300	6503	SO:0001587	stop_gained	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224357G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3391C>T	14.37:g.51224357G>A	ENSP00000371472:p.Arg1131*					NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*|NIN_ENST00000382041.3_Nonsense_Mutation_p.R1131*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*	p.R1131*	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3581	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1131					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	37	c.3391C>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.912985|6.912985	0.97932|0.97932	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|.	.|.	.|.	5.56|5.56	2.23|2.23	0.28157|0.28157	.|.	.|0.857809	.|0.10228	.|N	.|0.700090	T|.	0.24661|.	0.0598|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34354|.	-0.9832|.	3|.	.|0.11182	.|T	.|0.66	0.2394|0.2394	7.5752|7.5752	0.27931|0.27931	0.0905:0.0:0.4837:0.4258|0.0905:0.0:0.4837:0.4258	.|.	.|.	.|.	.|.	L|X	621|1131;1114;1137;1131;1131;1131	.|.	.|ENSP00000245441:R1131X	P|R	-|-	2|1	0|2	NIN|NIN	50294107|50294107	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.003000|0.003000	0.03518|0.03518	0.419000|0.419000	0.21247|0.21247	0.596000|0.596000	0.29794|0.29794	0.563000|0.563000	0.77884|0.77884	CCG|CGA		0.483	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		91	816	0	0	0	1	0	91	816				
SLC34A2	10568	broad.mit.edu	37	4	25672428	25672428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25672428G>A	ENST00000382051.3	+	8	950	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SLC34A2_ENST00000504570.1_Silent_p.K299K|SLC34A2_ENST00000503434.1_Silent_p.K299K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	300					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTCTTGTCAAGATTTGGTGCA	0.408			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(898-900)aaG>aaA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							80.0	71.0	74.0					4																	25672428		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25672428G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.900G>A	4.37:g.25672428G>A						SLC34A2_ENST00000503434.1_Silent_p.K299K|SLC34A2_ENST00000504570.1_Silent_p.K299K	p.K300K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			8	950	+		Breast(46;0.0503)	300					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.900G>A	CCDS3435.1																																																																																				0.408	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		27	188	0	0	0	1	0	27	188				
ERO1LB	56605	broad.mit.edu	37	1	236389686	236389686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236389686C>T	ENST00000354619.5	-	12	1136	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	312					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TGACAAAGCTCGAAGCTCAAT	0.393																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(934-936)cGa>cAa		ERO1-like beta (S. cerevisiae)							97.0	99.0	98.0					1																	236389686		2203	4300	6503	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236389686C>T	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.935G>A	1.37:g.236389686C>T	ENSP00000346635:p.Arg312Gln						p.R312Q	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		12	1136	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	312					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.935G>A	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006348	0.93287	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.53423	0.62;0.62	5.53	4.6	0.57074	.	0.060072	0.64402	D	0.000002	T	0.69869	0.3159	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73344	-0.4012	10	0.54805	T	0.06	-11.3801	14.7999	0.69906	0.0:0.9294:0.0:0.0706	.	312	Q86YB8	ERO1B_HUMAN	Q	312;37	ENSP00000346635:R312Q;ENSP00000264181:R37Q	ENSP00000264181:R37Q	R	-	2	0	ERO1LB	234456309	1.000000	0.71417	0.683000	0.30040	0.994000	0.84299	5.753000	0.68736	2.609000	0.88269	0.579000	0.79373	CGA		0.393	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		120	262	0	0	0	1	0	120	262				
KIAA0895L	653319	broad.mit.edu	37	16	67214520	67214520	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214520C>A	ENST00000290881.7	-	0	920				KIAA0895L_ENST00000561621.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_De_novo_Start_OutOfFrame			Q68EN5	K895L_HUMAN	KIAA0895-like											breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCATTCTGTCCTGGGGGTCAC	0.627																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17								KIAA0895-like							18.0	22.0	21.0					16																	67214520		1767	3659	5426			653319							g.chr16:67214520C>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.-7G>T	16.37:g.67214520C>A						KIAA0895L_ENST00000563902.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_De_novo_Start_OutOfFrame				Q68EN5	K895L_HUMAN			0	920	-								A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Translation_Start_Site	SNP	ENST00000290881.7	37		CCDS42177.1																																																																																				0.627	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		42	138	1	0	3.43241e-23	1	3.89856e-23	42	138				
ADCY10	55811	broad.mit.edu	37	1	167874374	167874374	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874374T>G	ENST00000367851.4	-	2	189	c.5A>C	c.(4-6)aAc>aCc	p.N2T	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	2					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTTGGAGTGTTCATGTTCAA	0.393																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(4-6)aAc>aCc		adenylate cyclase 10 (soluble)							159.0	153.0	155.0					1																	167874374		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167874374T>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.5A>C	1.37:g.167874374T>G	ENSP00000356825:p.Asn2Thr					ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T	p.N2T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN			2	189	-			2					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.5A>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788041	0.31593	.	.	ENSG00000143199	ENST00000367851	T	0.31769	1.48	5.05	-7.17	0.01511	.	0.665201	0.14367	N	0.324022	T	0.10637	0.0260	L	0.51422	1.61	0.23524	N	0.997491	B	0.31680	0.335	B	0.22386	0.039	T	0.00448	-1.1733	9	0.59425	D	0.04	-2.7767	16.0264	0.80548	0.0:0.7894:0.0:0.2106	.	2	Q96PN6	ADCYA_HUMAN	T	2	ENSP00000356825:N2T	ENSP00000356825:N2T	N	-	2	0	ADCY10	166140998	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.813000	0.01725	-1.422000	0.02004	-0.408000	0.06270	AAC		0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		118	411	0	0	0	1	0	118	411				
VIT	5212	broad.mit.edu	37	2	36982186	36982186	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36982186T>G	ENST00000389975.3	+	5	700	c.398T>G	c.(397-399)tTt>tGt	p.F133C	VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000401530.1_Missense_Mutation_p.F133C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000379242.3_Missense_Mutation_p.F133C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	133	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGAGAATCCTTTATCGTCTTA	0.443																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(397-399)tTt>tGt		vitrin							129.0	110.0	116.0					2																	36982186		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36982186T>G	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.398T>G	2.37:g.36982186T>G	ENSP00000374625:p.Phe133Cys					VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000389975.3_Missense_Mutation_p.F133C|VIT_ENST00000401530.1_Missense_Mutation_p.F133C	p.F133C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			5	700	+		all_hematologic(82;0.248)	133			LCCL.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.398T>G	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815856	0.70912	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.63	5.63	0.86233	LCCL (4);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.983;0.971;0.989;0.989;0.999	D	0.97115	0.9807	10	0.87932	D	0	-22.4825	15.5314	0.75964	0.0:0.0:0.0:1.0	.	133;133;133;133;133;133	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	C	133;133;133;133;111;133;133	ENSP00000368544:F133C;ENSP00000374625:F133C;ENSP00000393561:F133C;ENSP00000384154:F111C;ENSP00000368543:F133C;ENSP00000385658:F133C	ENSP00000368543:F133C	F	+	2	0	VIT	36835690	1.000000	0.71417	0.905000	0.35620	0.637000	0.38172	6.394000	0.73223	2.145000	0.66743	0.533000	0.62120	TTT		0.443	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				46	222	0	0	0	1	0	46	222				
TRIML2	205860	broad.mit.edu	37	4	189020151	189020151	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189020151C>A	ENST00000512729.1	-	4	846				TRIML2_ENST00000326754.3_Intron|TRIML2_ENST00000536972.1_Missense_Mutation_p.S220I	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2						protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCTCAAATACTGGAATGAAT	0.408																																						ENST00000536972.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(658-660)aGt>aTt		tripartite motif family-like 2							34.0	33.0	33.0					4																	189020151		2203	4300	6503	SO:0001627	intron_variant	205860						ligase activity	g.chr4:189020151C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.471+37G>T	4.37:g.189020151C>A						TRIML2_ENST00000326754.3_Intron|TRIML2_ENST00000512729.1_Intron	p.S220I			Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	5	906	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	0			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.659G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	1.483	-0.556715	0.03967	.	.	ENSG00000179046	ENST00000536972	T	0.03951	3.75	3.29	0.514	0.17007	.	.	.	.	.	T	0.05640	0.0148	.	.	.	0.09310	N	1	P	0.50617	0.937	P	0.46110	0.504	T	0.34378	-0.9831	8	0.87932	D	0	.	3.417	0.07380	0.0:0.5289:0.2183:0.2529	.	220	B7Z6J6	.	I	220	ENSP00000441236:S220I	ENSP00000441236:S220I	S	-	2	0	TRIML2	189257145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.050000	0.11904	0.071000	0.16664	-1.075000	0.02238	AGT		0.408	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		20	97	1	0	2.94398e-08	1	3.0722e-08	20	97				
OR13C9	286362	broad.mit.edu	37	9	107379810	107379810	+	Missense_Mutation	SNP	G	G	T	rs76552310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379810G>T	ENST00000259362.1	-	1	675	c.676C>A	c.(676-678)Ctc>Atc	p.L226I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGAATCTTGAGGATGCTGGAA	0.438																																						ENST00000259362.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(676-678)Ctc>Atc		olfactory receptor, family 13, subfamily C, member 9							78.0	74.0	75.0					9																	107379810		2202	4300	6502	SO:0001583	missense	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379810G>T		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.676C>A	9.37:g.107379810G>T	ENSP00000259362:p.Leu226Ile						p.L226I	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	675	-			226					Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	c.676C>A	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544183	0.27563	.	.	ENSG00000136839	ENST00000259362	T	0.00302	8.2	4.46	0.413	0.16401	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000864	T	0.00328	0.0010	M	0.86805	2.84	0.09310	N	1	B	0.25007	0.116	B	0.35813	0.211	T	0.43475	-0.9389	10	0.56958	D	0.05	.	3.2491	0.06807	0.2734:0.0:0.4165:0.3101	.	226	Q8NGT0	O13C9_HUMAN	I	226	ENSP00000259362:L226I	ENSP00000259362:L226I	L	-	1	0	OR13C9	106419631	0.014000	0.17966	0.039000	0.18376	0.929000	0.56500	0.301000	0.19174	0.138000	0.18790	0.643000	0.83706	CTC		0.438	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			58	284	1	0	7.10663e-31	1	8.35009e-31	58	284				
NRG1	3084	broad.mit.edu	37	8	32453476	32453476	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32453476G>A	ENST00000405005.3	+	2	231	c.231G>A	c.(229-231)ttG>ttA	p.L77L	NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000356819.4_Silent_p.L77L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000341377.5_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L|NRG1_ENST00000287842.3_Silent_p.L77L			Q02297	NRG1_HUMAN	neuregulin 1	77	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAATGAATTGAATCGAAAAA	0.393																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(229-231)ttG>ttA		neuregulin 1							107.0	116.0	113.0					8																	32453476		2203	4300	6503	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32453476G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.231G>A	8.37:g.32453476G>A						NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000356819.4_Silent_p.L77L|NRG1_ENST00000287840.5_Silent_p.L77L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000287842.3_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L|NRG1_ENST00000405005.2_Silent_p.L77L	p.L77L			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	2	748	+		Breast(100;0.203)	77			Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.231G>A	CCDS6085.1																																																																																				0.393	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			86	407	0	0	0	1	0	86	407				
SLC26A7	115111	broad.mit.edu	37	8	92350382	92350382	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92350382T>G	ENST00000276609.3	+	7	1039	c.800T>G	c.(799-801)aTt>aGt	p.I267S	SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACACAGATTATTGCTGCATCA	0.303																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(799-801)aTt>aGt		solute carrier family 26 (anion exchanger), member 7							101.0	96.0	98.0					8																	92350382		2203	4297	6500	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92350382T>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.800T>G	8.37:g.92350382T>G	ENSP00000276609:p.Ile267Ser					SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S	p.I267S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		7	1039	+			267						Missense_Mutation	SNP	ENST00000276609.3	37	c.800T>G	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.10|15.10	2.734097|2.734097	0.48939|0.48939	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536|ENST00000520818	D;D;D|.	0.94613|.	-3.47;-3.47;-3.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Sulphate transporter (1);|.	0.138507|.	0.50627|.	D|.	0.000115|.	T|T	0.70945|0.70945	0.3282|0.3282	L|L	0.58669|0.58669	1.825|1.825	0.44523|0.44523	D|D	0.997476|0.997476	B;B|.	0.19583|.	0.037;0.018|.	B;B|.	0.18263|.	0.012;0.021|.	T|T	0.69296|0.69296	-0.5182|-0.5182	10|5	0.87932|.	D|.	0|.	.|.	16.1388|16.1388	0.81509|0.81509	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	267;267|.	Q8TE54-2;Q8TE54|.	.;S26A7_HUMAN|.	S|V	267|135	ENSP00000428849:I267S;ENSP00000276609:I267S;ENSP00000309504:I267S|.	ENSP00000276609:I267S|.	I|L	+|+	2|1	0|2	SLC26A7|SLC26A7	92419558|92419558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.140000|5.140000	0.64807|0.64807	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	ATT|TTG		0.303	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			63	246	0	0	0	1	0	63	246				
THSD7B	80731	broad.mit.edu	37	2	137988686	137988686	+	Missense_Mutation	SNP	G	G	A	rs373017033		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:137988686G>A	ENST00000409968.1	+	8	1974	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	599						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTCCCTGCCGAATGGACTGT	0.488																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1795-1797)cGa>cAa		thrombospondin, type I, domain containing 7B		G	GLN/ARG	1,3991		0,1,1995	95.0	96.0	95.0		1703	4.1	1.0	2		95	0,8316		0,0,4158	no	missense	THSD7B	NM_001080427.1	43	0,1,6153	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging	568/1578	137988686	1,12307	1996	4158	6154	SO:0001583	missense	80731							g.chr2:137988686G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1796G>A	2.37:g.137988686G>A	ENSP00000387145:p.Arg599Gln					THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q	p.R599Q						BRCA - Breast invasive adenocarcinoma(221;0.19)	8	1974	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1796G>A		.	.	.	.	.	.	.	.	.	.	G	19.19	3.779624	0.70107	2.51E-4	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.89	4.09	0.47781	.	0.705388	0.14196	N	0.334986	T	0.39759	0.1090	L	0.28115	0.83	0.80722	D	1	D;P	0.56746	0.977;0.938	B;B	0.40444	0.329;0.329	T	0.14783	-1.0460	10	0.34782	T	0.22	.	6.6903	0.23167	0.1639:0.2698:0.5663:0.0	.	599;568	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Q	599;599;568	ENSP00000387145:R599Q;ENSP00000272643:R599Q;ENSP00000413841:R568Q	ENSP00000272643:R599Q	R	+	2	0	THSD7B	137705156	0.927000	0.31430	0.992000	0.48379	0.969000	0.65631	4.797000	0.62503	1.503000	0.48686	0.563000	0.77884	CGA		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		17	228	0	0	0	1	0	17	228				
ASH1L	55870	broad.mit.edu	37	1	155451439	155451439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155451439G>A	ENST00000368346.3	-	3	1861	c.1222C>T	c.(1222-1224)Cta>Tta	p.L408L	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.L408L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	408					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAACTCATTAGTTTCTTTCCA	0.448																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(1222-1224)Cta>Tta		ash1 (absent, small, or homeotic)-like (Drosophila)							115.0	111.0	112.0					1																	155451439		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155451439G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1222C>T	1.37:g.155451439G>A						ASH1L_ENST00000392403.3_Silent_p.L408L|ASH1L_ENST00000548830.1_3'UTR	p.L408L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	1861	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		408					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.1222C>T																																																																																					0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		194	480	0	0	0	1	0	194	480				
PHF12	57649	broad.mit.edu	37	17	27233281	27233281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27233281G>T	ENST00000332830.4	-	15	3745	c.2935C>A	c.(2935-2937)Ctg>Atg	p.L979M	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATCCTGCAGCAGGCTGGCA	0.597																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2935-2937)Ctg>Atg		PHD finger protein 12							50.0	56.0	54.0					17																	27233281		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233281G>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2935C>A	17.37:g.27233281G>T	ENSP00000329933:p.Leu979Met					PHF12_ENST00000577226.1_3'UTR	p.L979M	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		15	3745	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		979						Missense_Mutation	SNP	ENST00000332830.4	37	c.2935C>A	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	g	11.02	1.517194	0.27123	.	.	ENSG00000109118	ENST00000332830	D	0.94723	-3.5	5.28	2.04	0.26737	.	0.360301	0.26383	N	0.024681	D	0.88429	0.6434	L	0.40543	1.245	0.80722	D	1	P;P	0.41041	0.736;0.736	B;B	0.36186	0.219;0.219	D	0.84023	0.0355	10	0.51188	T	0.08	-6.6244	5.9949	0.19489	0.1811:0.2947:0.5242:0.0	.	961;979	B4DFE2;Q96QT6	.;PHF12_HUMAN	M	979	ENSP00000329933:L979M	ENSP00000329933:L979M	L	-	1	2	PHF12	24257407	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.876000	0.48498	0.631000	0.30412	0.651000	0.88453	CTG		0.597	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		50	210	1	0	1.61004e-24	1	1.84098e-24	50	210				
SMARCA2	6595	broad.mit.edu	37	9	2073274	2073274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2073274C>T	ENST00000382203.1	+	11	2018	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SMARCA2_ENST00000382194.1_Silent_p.G603G|SMARCA2_ENST00000349721.2_Silent_p.G603G|SMARCA2_ENST00000357248.2_Silent_p.G603G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	603					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGAAACCGGCAAGGTTCTGT	0.502																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1807-1809)ggC>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							75.0	75.0	75.0					9																	2073274		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2073274C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1809C>T	9.37:g.2073274C>T						SMARCA2_ENST00000349721.2_Silent_p.G603G|SMARCA2_ENST00000357248.2_Silent_p.G603G|SMARCA2_ENST00000382194.1_Silent_p.G603G	p.G603G			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	11	2018	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	603					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.1809C>T	CCDS34977.1																																																																																				0.502	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		34	199	0	0	0	1	0	34	199				
SEPT4	5414	broad.mit.edu	37	17	56599357	56599357	+	Silent	SNP	G	G	A	rs144640338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56599357G>A	ENST00000317268.3	-	6	944	c.768C>T	c.(766-768)tgC>tgT	p.C256C	SEPT4_ENST00000426861.1_Silent_p.C237C|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000580844.1_Silent_p.C157C|SEPT4_ENST00000580809.1_Silent_p.C138C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000579371.1_Silent_p.C157C	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	256	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGTACAGGCAGCAGTGCA	0.562																																						ENST00000426861.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(709-711)tgC>tgT		septin 4		G	,,,	0,4406		0,0,2203	175.0	145.0	155.0		744,768,711,711	4.9	1.0	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	248/471,256/479,237/275,237/460	56599357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56599357G>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.768C>T	17.37:g.56599357G>A						SEPT4_ENST00000317268.3_Silent_p.C256C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000580844.1_Silent_p.C157C|SEPT4_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000580809.1_Silent_p.C138C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000393086.1_Silent_p.C237C	p.C237C	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN			6	797	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		256					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	c.711C>T	CCDS11610.1																																																																																				0.562	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		69	321	0	0	0	1	0	69	321				
NPAS3	64067	broad.mit.edu	37	14	34269619	34269619	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269619C>T	ENST00000356141.4	+	12	2106	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	NPAS3_ENST00000551492.1_Silent_p.G707G|NPAS3_ENST00000346562.2_Silent_p.G670G|NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	702	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGGGGGTGGCGGTGGCGGGG	0.741																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2008-2010)ggC>ggT		neuronal PAS domain protein 3							10.0	13.0	12.0					14																	34269619		2060	4039	6099	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269619C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2106C>T	14.37:g.34269619C>T						NPAS3_ENST00000356141.4_Silent_p.G702G|NPAS3_ENST00000551492.1_Silent_p.G707G|NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G	p.G670G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2084	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		702					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.2010C>T	CCDS53891.1																																																																																				0.741	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			49	153	0	0	0	1	0	49	153				
ADM	133	broad.mit.edu	37	11	10328148	10328148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10328148C>T	ENST00000528655.1	+	3	1135	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ADM_ENST00000534464.1_Missense_Mutation_p.A126V|ADM_ENST00000525063.1_Missense_Mutation_p.A173V|ADM_ENST00000530439.1_Missense_Mutation_p.A105V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V|RP11-351I24.1_ENST00000526906.1_RNA			P35318	ADML_HUMAN	adrenomedullin	173					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCACACGGGGCTCCAGCCCCC	0.672																																						ENST00000528655.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(517-519)gCt>gTt		adrenomedullin							17.0	21.0	19.0					11																	10328148		2176	4232	6408	SO:0001583	missense	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10328148C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.518C>T	11.37:g.10328148C>T	ENSP00000436607:p.Ala173Val					ADM_ENST00000530439.1_Missense_Mutation_p.A105V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V|ADM_ENST00000525063.1_Missense_Mutation_p.A173V|ADM_ENST00000534464.1_Missense_Mutation_p.A126V	p.A173V			P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	3	1135	+			173					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.518C>T	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197914	0.58126	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.56275	1.06;1.01;0.47;1.06;1.06	5.21	1.66	0.24008	.	0.488207	0.24267	N	0.040036	T	0.27063	0.0663	N	0.08118	0	0.18873	N	0.999985	B	0.09022	0.002	B	0.12156	0.007	T	0.13150	-1.0520	10	0.33940	T	0.23	-2.2324	6.4641	0.21971	0.0:0.6484:0.1456:0.206	.	173	P35318	ADML_HUMAN	V	173;126;105;173;173	ENSP00000278175:A173V;ENSP00000431438:A126V;ENSP00000436837:A105V;ENSP00000436607:A173V;ENSP00000435124:A173V	ENSP00000278175:A173V	A	+	2	0	ADM	10284724	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	0.996000	0.29719	0.644000	0.30656	0.561000	0.74099	GCT		0.672	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		47	206	0	0	0	1	0	47	206				
KLHL14	57565	broad.mit.edu	37	18	30350152	30350152	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350152G>T	ENST00000359358.4	-	2	841	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L135M|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	135	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACCAGGCGCAGCCCGATGGAC	0.657																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(403-405)Ctg>Atg		kelch-like family member 14							93.0	96.0	95.0					18																	30350152		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350152G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.403C>A	18.37:g.30350152G>T	ENSP00000352314:p.Leu135Met					AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.L135M	p.L135M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	841	-			135			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.403C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	5.630	0.300870	0.10678	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.70749	-0.51;-0.51	4.67	2.86	0.33363	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.52041	0.1710	N	0.25286	0.73	0.47698	D	0.999492	B	0.17268	0.021	B	0.25291	0.059	T	0.37979	-0.9682	10	0.41790	T	0.15	.	4.3797	0.11288	0.2583:0.0:0.5843:0.1574	.	135	Q9P2G3	KLH14_HUMAN	M	135	ENSP00000352314:L135M;ENSP00000350808:L135M	ENSP00000350808:L135M	L	-	1	2	KLHL14	28604150	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.664000	0.54525	0.403000	0.25479	-0.384000	0.06662	CTG		0.657	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			138	641	1	0	4.21949e-90	1	5.41566e-90	138	641				
KRT34	3885	broad.mit.edu	37	17	39538461	39538461	+	Missense_Mutation	SNP	C	C	T	rs139913573	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538461C>T	ENST00000394001.1	-	1	194	c.164G>A	c.(163-165)cGc>cAc	p.R55H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	55	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R55H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCCCAG	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		15126	0.001		0.0	False		,,,				2504	0.001					ENST00000394001.1																			1	Substitution - Missense(1)	p.R55H(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(163-165)cGc>cAc		keratin 34		C	HIS/ARG	0,4406		0,0,2203	50.0	48.0	49.0		164	1.2	1.0	17	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT34	NM_021013.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	55/437	39538461	1,13005	2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538461C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.164G>A	17.37:g.39538461C>T	ENSP00000377570:p.Arg55His						p.R55H	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			1	194	-		Breast(137;0.000496)	55			Head.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.164G>A	CCDS11390.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	13.27	2.188524	0.38609	0.0	1.16E-4	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	1.16	0.20824	.	0.094893	0.47455	N	0.000233	T	0.33847	0.0877	L	0.32530	0.975	0.27611	N	0.948664	B	0.17667	0.023	B	0.09377	0.004	T	0.27739	-1.0065	9	0.45353	T	0.12	.	11.1857	0.48655	0.0:0.6975:0.0:0.3025	.	55	O76011	KRT34_HUMAN	H	13;55	.	ENSP00000251648:R55H	R	-	2	0	KRT34	36791987	0.003000	0.15002	1.000000	0.80357	0.929000	0.56500	-0.074000	0.11450	0.402000	0.25451	-0.251000	0.11542	CGC		0.627	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		89	388	0	0	0	1	0	89	388				
LAMB1	3912	broad.mit.edu	37	7	107626718	107626718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107626718C>T	ENST00000222399.6	-	6	744	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	LAMB1_ENST00000393561.1_Missense_Mutation_p.A196T|LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	172	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.A172T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGAAACGAGGCCTCACAGTCA	0.463																																						ENST00000393561.1																			1	Substitution - Missense(1)	p.A172T(1)	large_intestine(1)	NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(586-588)Gcc>Acc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						107.0	104.0	105.0					7																	107626718		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107626718C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.514G>A	7.37:g.107626718C>T	ENSP00000222399:p.Ala172Thr					LAMB1_ENST00000222399.6_Missense_Mutation_p.A172T|LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T	p.A196T			P07942	LAMB1_HUMAN			4	770	-			172			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.586G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813822	0.32053	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.75367	-0.93;-0.93;-0.93	5.86	4.72	0.59763	Laminin, N-terminal (3);	.	.	.	.	T	0.52677	0.1749	N	0.04245	-0.25	0.25527	N	0.987313	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.12837	0.007;0.008;0.002	T	0.39375	-0.9617	9	0.25106	T	0.35	.	11.2059	0.48769	0.0:0.0729:0.0:0.9271	.	172;172;196	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	T	196;172;172	ENSP00000377191:A196T;ENSP00000222399:A172T;ENSP00000377190:A172T	ENSP00000222399:A172T	A	-	1	0	LAMB1	107413954	0.363000	0.24989	1.000000	0.80357	0.476000	0.33039	-0.014000	0.12656	1.051000	0.40369	-0.302000	0.09304	GCC		0.463	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		66	380	0	0	0	1	0	66	380				
CALHM1	255022	broad.mit.edu	37	10	105218206	105218206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218206G>T	ENST00000329905.5	-	1	439	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	101					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGGCCATGGAGCAGAACATGT	0.657																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(301-303)tgC>tgA		calcium homeostasis modulator 1							33.0	34.0	33.0					10																	105218206		2203	4298	6501	SO:0001587	stop_gained	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218206G>T	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.303C>A	10.37:g.105218206G>T	ENSP00000329926:p.Cys101*					RP11-225H22.4_ENST00000411906.1_RNA	p.C101*	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			1	439	-			101					Q5W091	Nonsense_Mutation	SNP	ENST00000329905.5	37	c.303C>A	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642628	0.96704	.	.	ENSG00000185933	ENST00000329905	.	.	.	5.38	1.36	0.22044	.	0.102535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.3187	9.1978	0.37240	0.4035:0.0:0.5965:0.0	.	.	.	.	X	101	.	ENSP00000329926:C101X	C	-	3	2	CALHM1	105208196	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.880000	0.28159	0.407000	0.25591	0.491000	0.48974	TGC		0.657	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		52	222	1	0	6.32628e-17	1	6.96643e-17	52	222				
CDR1	1038	broad.mit.edu	37	X	139866020	139866020	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:139866020A>C	ENST00000370532.2	-	1	703	c.512T>G	c.(511-513)tTt>tGt	p.F171C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	171	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCTTCCAGAAAATCCACGTCT	0.428																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(511-513)tTt>tGt		cerebellar degeneration-related protein 1, 34kDa							146.0	150.0	149.0					X																	139866020		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866020A>C		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.512T>G	X.37:g.139866020A>C	ENSP00000359563:p.Phe171Cys						p.F171C	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	703	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	171			6 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.512T>G	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543151	0.45280	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.07	-0.12	0.13539	.	.	.	.	.	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.61874	0.895	T	0.13124	-1.0521	7	.	.	.	.	3.87	0.09033	0.6586:0.0:0.1693:0.1721	.	171	P51861	CDR1_HUMAN	C	171	.	.	F	-	2	0	CDR1	139693686	0.018000	0.18449	0.004000	0.12327	0.269000	0.26545	1.299000	0.33424	0.100000	0.17581	0.242000	0.17961	TTT		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		19	1275	0	0	0	1	0	19	1275				
PRMT7	54496	broad.mit.edu	37	16	68387411	68387411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68387411G>A	ENST00000339507.5	+	16	2422	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q|PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	531	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGGCGGATCCGGAGCCCCTGT	0.617																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(1591-1593)cGg>cAg		protein arginine methyltransferase 7							83.0	71.0	75.0					16																	68387411		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68387411G>A	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1592G>A	16.37:g.68387411G>A	ENSP00000343103:p.Arg531Gln					PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q	p.R531Q			Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	16	2422	+		Ovarian(137;0.192)	531					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1592G>A	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	36	5.897583	0.97081	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.83774	2.66	0.33124	D	0.542121	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.966;0.997;0.91	T	0.67090	-0.5758	10	0.54805	T	0.06	-30.2729	15.8933	0.79318	0.0:0.0:1.0:0.0	.	481;383;531	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	Q	481;481;383;531	ENSP00000414716:R481Q;ENSP00000409324:R481Q;ENSP00000345775:R383Q;ENSP00000343103:R531Q	ENSP00000343103:R531Q	R	+	2	0	PRMT7	66944912	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.756000	0.91651	2.824000	0.97209	0.655000	0.94253	CGG		0.617	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		15	356	0	0	0	1	0	15	356				
KARS	3735	broad.mit.edu	37	16	75663366	75663366	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75663366T>C	ENST00000302445.3	-	12	1537	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	KARS_ENST00000319410.5_Missense_Mutation_p.T528A|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	500					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTCAGCTCAGTATACGCATTG	0.517																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1582-1584)Act>Gct		lysyl-tRNA synthetase	L-Lysine(DB00123)						177.0	176.0	176.0					16																	75663366		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75663366T>C	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1498A>G	16.37:g.75663366T>C	ENSP00000303043:p.Thr500Ala					KARS_ENST00000302445.3_Missense_Mutation_p.T500A|KARS_ENST00000568378.1_Intron	p.T528A	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			13	1703	-			500					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1582A>G	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	T	33	5.227218	0.95173	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.84442	-1.85;-1.85	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	H	0.94771	3.58	0.80722	D	1	P;D	0.61080	0.928;0.989	P;P	0.62491	0.635;0.903	D	0.95310	0.8411	10	0.87932	D	0	-18.1764	15.0088	0.71533	0.0:0.0:0.0:1.0	.	528;500	Q15046-2;Q15046	.;SYK_HUMAN	A	528;500	ENSP00000325448:T528A;ENSP00000303043:T500A	ENSP00000303043:T500A	T	-	1	0	KARS	74220867	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.013000	0.88655	2.221000	0.72209	0.455000	0.32223	ACT		0.517	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		100	1177	0	0	0	1	0	100	1177				
CLIP3	25999	broad.mit.edu	37	19	36517067	36517067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517067G>A	ENST00000360535.4	-	6	890	c.663C>T	c.(661-663)ggC>ggT	p.G221G	CLIP3_ENST00000593074.1_Silent_p.G221G|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	221					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.G221G(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGGTTGGCGCCGTGCTCCA	0.637																																						ENST00000360535.4																			1	Substitution - coding silent(1)	p.G221G(1)	lung(1)	cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(661-663)ggC>ggT		CAP-GLY domain containing linker protein 3							46.0	43.0	44.0					19																	36517067		2203	4300	6503	SO:0001819	synonymous_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36517067G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.663C>T	19.37:g.36517067G>A						AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.G221G	p.G221G	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	890	-	Esophageal squamous(110;0.162)		221					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	37	c.663C>T	CCDS12486.1																																																																																				0.637	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		67	215	0	0	0	1	0	67	215				
LENG8	114823	broad.mit.edu	37	19	54966209	54966209	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966209C>T	ENST00000326764.5	+	7	1238	c.759C>T	c.(757-759)aaC>aaT	p.N253N	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	216										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTGGCTCCAACGCAGAGGGCC	0.607																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(757-759)aaC>aaT		leukocyte receptor cluster (LRC) member 8							69.0	67.0	67.0					19																	54966209		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54966209C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.759C>T	19.37:g.54966209C>T						LENG8_ENST00000376514.2_Intron	p.N253N	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	7	1238	+	Ovarian(34;0.19)		216					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.759C>T	CCDS12894.1																																																																																				0.607	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		51	231	0	0	0	1	0	51	231				
CNNM1	26507	broad.mit.edu	37	10	101151259	101151259	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101151259C>T	ENST00000356713.4	+	11	3131	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S	CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	948					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAATTTAACACCTCTGATCAC	0.488																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(2842-2844)Cct>Tct		cyclin M1							89.0	81.0	83.0					10																	101151259		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101151259C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2842C>T	10.37:g.101151259C>T	ENSP00000349147:p.Pro948Ser					CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S	p.P948S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	11	3131	+		Colorectal(252;0.234)	948					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.2842C>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654267	0.47467	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.79	5.79	0.91817	.	0.077331	0.53938	D	0.000056	T	0.64907	0.2641	N	0.19112	0.55	0.41761	D	0.989712	B;B;B	0.29862	0.084;0.094;0.259	B;B;B	0.25759	0.028;0.045;0.063	T	0.65639	-0.6119	10	0.52906	T	0.07	-11.6285	14.2188	0.65812	0.0:0.9288:0.0:0.0712	.	604;898;948	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	S	948;877;827;604;401	ENSP00000349147:P948S;ENSP00000406492:P877S;ENSP00000359559:P827S;ENSP00000359565:P604S	ENSP00000349147:P948S	P	+	1	0	CNNM1	101141249	0.869000	0.29996	0.771000	0.31576	0.978000	0.69477	3.935000	0.56560	2.734000	0.93682	0.555000	0.69702	CCT		0.488	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		17	128	0	0	0	1	0	17	128				
GSTA5	221357	broad.mit.edu	37	6	52701122	52701122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52701122C>T	ENST00000370989.2	-	3	213	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	62	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AGCTTCATCCCGTCAATCTCA	0.423																																						ENST00000370989.1																			0				endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(184-186)Ggg>Agg		glutathione S-transferase alpha 5	Glutathione(DB00143)						131.0	130.0	130.0					6																	52701122		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701122C>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.184G>A	6.37:g.52701122C>T	ENSP00000360028:p.Gly62Arg					GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R	p.G62R			Q7RTV2	GSTA5_HUMAN			4	342	-	Lung NSC(77;0.0912)		62			GST N-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.184G>A	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518049	0.64634	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.20069	2.1;2.1	2.63	2.63	0.31362	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	H	0.98769	4.325	0.54753	D	0.999989	P	0.48294	0.908	P	0.52031	0.688	T	0.67639	-0.5619	10	0.66056	D	0.02	.	13.2149	0.59854	0.0:1.0:0.0:0.0	.	62	Q7RTV2	GSTA5_HUMAN	R	62	ENSP00000360028:G62R;ENSP00000284562:G62R	ENSP00000284562:G62R	G	-	1	0	GSTA5	52809081	1.000000	0.71417	0.993000	0.49108	0.688000	0.40055	5.269000	0.65542	1.456000	0.47831	0.205000	0.17691	GGG		0.423	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		155	731	0	0	0	1	0	155	731				
DPYD	1806	broad.mit.edu	37	1	97564175	97564175	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97564175A>G	ENST00000370192.3	-	21	2736	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	879					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATAAGGTCCAAAACTTGGCAG	0.323																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2635-2637)tTt>tCt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						86.0	83.0	84.0					1																	97564175		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564175A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2636T>C	1.37:g.97564175A>G	ENSP00000359211:p.Phe879Ser					DPYD-AS1_ENST00000422980.1_RNA	p.F879S	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2736	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	879					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2636T>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197189	0.79015	.	.	ENSG00000188641	ENST00000370192	D	0.89810	-2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95432	0.8517	10	0.87932	D	0	-20.0261	14.7536	0.69546	1.0:0.0:0.0:0.0	.	879	Q12882	DPYD_HUMAN	S	879	ENSP00000359211:F879S	ENSP00000359211:F879S	F	-	2	0	DPYD	97336763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.399000	0.73248	2.285000	0.76669	0.482000	0.46254	TTT		0.323	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		31	192	0	0	0	1	0	31	192				
CDC42BPB	9578	broad.mit.edu	37	14	103444469	103444469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103444469G>A	ENST00000361246.2	-	9	1502	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATACCTTTCCGTTGTGAATGT	0.453																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1213-1215)aCg>aTg		CDC42 binding protein kinase beta (DMPK-like)							113.0	98.0	103.0					14																	103444469		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103444469G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1214C>T	14.37:g.103444469G>A	ENSP00000355237:p.Thr405Met						p.T405M	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	9	1502	-		Melanoma(154;0.155)	405			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000361246.2	37	c.1214C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069583	0.76301	.	.	ENSG00000198752	ENST00000361246	T	0.64260	-0.09	5.3	5.3	0.74995	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	L	0.51422	1.61	0.80722	D	1	D	0.63046	0.992	D	0.64776	0.929	T	0.75309	-0.3363	10	0.54805	T	0.06	.	18.9519	0.92644	0.0:0.0:1.0:0.0	.	405	Q9Y5S2	MRCKB_HUMAN	M	405	ENSP00000355237:T405M	ENSP00000355237:T405M	T	-	2	0	CDC42BPB	102514222	1.000000	0.71417	0.789000	0.31954	0.639000	0.38242	5.293000	0.65680	2.481000	0.83766	0.655000	0.94253	ACG		0.453	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		43	217	0	0	0	1	0	43	217				
SNAP91	9892	broad.mit.edu	37	6	84417642	84417642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84417642G>A	ENST00000439399.2	-	2	321	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SNAP91_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000428679.2_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000521485.1_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_Missense_Mutation_p.S2L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	2					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CGTTTGGCCCGACATCTTCTG	0.587																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(4-6)tCg>tTg		synaptosomal-associated protein, 91kDa							53.0	58.0	56.0					6																	84417642		1981	4164	6145	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84417642G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.5C>T	6.37:g.84417642G>A	ENSP00000400459:p.Ser2Leu					SNAP91_ENST00000521485.1_Missense_Mutation_p.S2L|SNAP91_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000439399.2_Missense_Mutation_p.S2L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L	p.S2L			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	2	598	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	2					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.5C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986026	0.93044	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484;ENST00000519825	T;T;T;T;T;T;T;T;T;T	0.37411	1.87;1.87;1.87;1.87;1.86;2.13;1.94;1.87;2.13;1.2	5.36	5.36	0.76844	.	0.118037	0.64402	D	0.000011	T	0.56307	0.1976	M	0.74881	2.28	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.75484	0.986;0.968;0.968	T	0.61153	-0.7120	10	0.87932	D	0	-3.8263	19.0968	0.93255	0.0:0.0:1.0:0.0	.	2;2;2	O60641-3;E5RI02;E1P549	.;.;.	L	2	ENSP00000429776:S2L;ENSP00000358708:S2L;ENSP00000400459:S2L;ENSP00000195649:S2L;ENSP00000412492:S2L;ENSP00000413277:S2L;ENSP00000428511:S2L;ENSP00000428215:S2L;ENSP00000428026:S2L;ENSP00000430071:S2L	ENSP00000195649:S2L	S	-	2	0	SNAP91	84474361	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.860000	0.99555	2.516000	0.84829	0.462000	0.41574	TCG		0.587	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			60	181	0	0	0	1	0	60	181				
PRKCG	5582	broad.mit.edu	37	19	54403724	54403724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54403724C>T	ENST00000263431.3	+	13	1707	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	PRKCG_ENST00000542049.1_Silent_p.G362G|PRKCG_ENST00000540413.1_Silent_p.G475G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	475	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACAATCAGGGCATCATCTACA	0.552																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1423-1425)ggC>ggT		protein kinase C, gamma							57.0	59.0	58.0					19																	54403724		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403724C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1425C>T	19.37:g.54403724C>T						PRKCG_ENST00000542049.1_Silent_p.G362G|PRKCG_ENST00000540413.1_Silent_p.G475G	p.G475G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	13	1707	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		475			Protein kinase.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.1425C>T	CCDS12867.1																																																																																				0.552	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		39	229	0	0	0	1	0	39	229				
CTNNB1	1499	broad.mit.edu	37	3	41275730	41275730	+	Missense_Mutation	SNP	G	G	A	rs551257843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275730G>A	ENST00000349496.5	+	10	1905	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	542					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTGCTTGTTCGTGCACATCAG	0.488		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				G|||	1	0.000199681	0.0008	0.0	5008	,	,		19919	0.0		0.0	False		,,,				2504	0.0				Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1624-1626)cGt>cAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						159.0	133.0	142.0					3																	41275730		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275730G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1625G>A	3.37:g.41275730G>A	ENSP00000344456:p.Arg542His					CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H	p.R542H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	10	1905	+			542					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1625G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528589	0.64860	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.87	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.82132	2.575	0.80722	D	1	B;P	0.36683	0.383;0.565	B;B	0.24974	0.046;0.057	T	0.68735	-0.5330	10	0.72032	D	0.01	-14.329	16.2705	0.82616	0.0:0.0:0.8662:0.1338	.	470;542	B4DSW9;P35222	.;CTNB1_HUMAN	H	542;542;542;535;542	ENSP00000385604:R542H;ENSP00000379486:R542H;ENSP00000344456:R542H;ENSP00000411226:R535H;ENSP00000379488:R542H	ENSP00000344456:R542H	R	+	2	0	CTNNB1	41250734	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	7.961000	0.87903	1.456000	0.47831	0.591000	0.81541	CGT		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		56	275	0	0	0	1	0	56	275				
CFAP46	54777	broad.mit.edu	37	10	134627697	134627697	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134627697C>T	ENST00000368586.5	-	54	7447	c.7347G>A	c.(7345-7347)acG>acA	p.T2449T	TTC40_ENST00000263170.5_Silent_p.T610T	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCCATCGCGACGTGAATGTGT	0.557																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(7345-7347)acG>acA		tetratricopeptide repeat domain 40							105.0	88.0	94.0					10																	134627697		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134627697C>T																												ENST00000368586.5:c.7347G>A	10.37:g.134627697C>T						TTC40_ENST00000263170.5_Silent_p.T610T	p.T2449T	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			54	7447	-			610						Silent	SNP	ENST00000368586.5	37	c.7347G>A	CCDS58101.1																																																																																				0.557	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			33	176	0	0	0	1	0	33	176				
FASTKD2	22868	broad.mit.edu	37	2	207636969	207636969	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207636969G>A	ENST00000236980.6	+	6	1527	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	FASTKD2_ENST00000403094.3_Silent_p.Q393Q|FASTKD2_ENST00000402774.3_Silent_p.Q393Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	393					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGACCTCCAGTACCATAATT	0.343																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(1177-1179)caG>caA		FAST kinase domains 2							92.0	92.0	92.0					2																	207636969		2203	4300	6503	SO:0001819	synonymous_variant	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207636969G>A	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1179G>A	2.37:g.207636969G>A						FASTKD2_ENST00000402774.3_Silent_p.Q393Q|FASTKD2_ENST00000403094.3_Silent_p.Q393Q	p.Q393Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	6	1527	+			393					Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	37	c.1179G>A	CCDS2371.1																																																																																				0.343	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		9	307	0	0	0	1	0	9	307				
MMP14	4323	broad.mit.edu	37	14	23306057	23306057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306057C>A	ENST00000311852.6	+	1	292	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	11					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCCCCGTTGTCTCCTGCTCCC	0.726											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(31-33)Ctc>Atc		matrix metallopeptidase 14 (membrane-inserted)							30.0	25.0	27.0					14																	23306057		2203	4298	6501	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23306057C>A		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.31C>A	14.37:g.23306057C>A	ENSP00000308208:p.Leu11Ile		OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	762	MMP14_ENST00000548162.1_3'UTR	p.L11I	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	1	292	+	all_cancers(95;9.47e-05)		11					A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.31C>A	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604229	0.46423	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.59224	2.4;0.28	4.75	4.75	0.60458	.	0.533597	0.20310	N	0.094848	T	0.37517	0.1006	N	0.08118	0	0.31485	N	0.666702	B	0.24823	0.112	B	0.23018	0.043	T	0.42310	-0.9459	10	0.40728	T	0.16	.	13.4433	0.61125	0.0:1.0:0.0:0.0	.	11	P50281	MMP14_HUMAN	I	11	ENSP00000308208:L11I;ENSP00000450323:L11I	ENSP00000308208:L11I	L	+	1	0	MMP14	22375897	0.813000	0.29090	0.998000	0.56505	0.991000	0.79684	1.956000	0.40382	2.630000	0.89119	0.655000	0.94253	CTC		0.726	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		44	144	1	0	3.54909e-21	1	3.99219e-21	44	144				
HR	55806	broad.mit.edu	37	8	21982906	21982906	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982906C>T	ENST00000381418.4	-	5	3148	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	HR_ENST00000312841.8_Silent_p.K556K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	556					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGAGCAGGTGCTTGGCGAGGC	0.687																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1666-1668)aaG>aaA		hair growth associated							28.0	30.0	29.0					8																	21982906		2202	4298	6500	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982906C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1668G>A	8.37:g.21982906C>T						HR_ENST00000312841.8_Silent_p.K556K	p.K556K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	3148	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	556					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.1668G>A	CCDS6022.1																																																																																				0.687	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			16	78	0	0	0	1	0	16	78				
SLC26A8	116369	broad.mit.edu	37	6	35967781	35967781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35967781G>A	ENST00000490799.1	-	4	786	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATGGACATTTGATGACACGAT	0.403																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(433-435)Caa>Taa		solute carrier family 26 (anion exchanger), member 8							160.0	163.0	162.0					6																	35967781		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35967781G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.433C>T	6.37:g.35967781G>A	ENSP00000417638:p.Gln145*					SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*	p.Q145*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			4	786	-			145						Nonsense_Mutation	SNP	ENST00000490799.1	37	c.433C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	39	7.329593	0.98214	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	5.4	5.4	0.78164	.	0.163089	0.43260	D	0.000589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0345	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	X	145	.	ENSP00000347778:Q145X	Q	-	1	0	SLC26A8	36075759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.192000	0.65115	2.694000	0.91930	0.655000	0.94253	CAA		0.403	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			86	808	0	0	0	1	0	86	808				
RNF168	165918	broad.mit.edu	37	3	196214437	196214437	+	Nonsense_Mutation	SNP	G	G	A	rs201915239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196214437G>A	ENST00000318037.3	-	3	985	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	131	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGCCCGTCGCTCTGCCGCC	0.398																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(391-393)Cga>Tga		ring finger protein 168, E3 ubiquitin protein ligase		G	stop/ARG	0,4404		0,0,2202	116.0	108.0	111.0		391	2.7	1.0	3		111	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	RNF168	NM_152617.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		131/572	196214437	1,13001	2202	4299	6501	SO:0001587	stop_gained	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214437G>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.391C>T	3.37:g.196214437G>A	ENSP00000320898:p.Arg131*						p.R131*	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	985	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		131			Glu-rich.		Q8NA67|Q96NS4	Nonsense_Mutation	SNP	ENST00000318037.3	37	c.391C>T	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	42	9.202635	0.99099	0.0	1.16E-4	ENSG00000163961	ENST00000318037	.	.	.	5.41	2.65	0.31530	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2389	4.4813	0.11767	0.1398:0.1235:0.6091:0.1275	.	.	.	.	X	131	.	ENSP00000320898:R131X	R	-	1	2	RNF168	197698834	1.000000	0.71417	0.991000	0.47740	0.795000	0.44927	2.102000	0.41796	0.409000	0.25649	0.655000	0.94253	CGA		0.398	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		99	411	0	0	0	1	0	99	411				
HDX	139324	broad.mit.edu	37	X	83724000	83724000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724000C>T	ENST00000297977.5	-	3	842	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	HDX_ENST00000506585.2_Missense_Mutation_p.C186Y|HDX_ENST00000373177.2_Missense_Mutation_p.C244Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	244						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTTTGCCCACATAAGTTATG	0.428																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(730-732)tGt>tAt		highly divergent homeobox							105.0	95.0	98.0					X																	83724000		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724000C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.731G>A	X.37:g.83724000C>T	ENSP00000297977:p.Cys244Tyr					HDX_ENST00000506585.2_Missense_Mutation_p.C186Y|HDX_ENST00000373177.2_Missense_Mutation_p.C244Y	p.C244Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	842	-			244					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.731G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449416	0.01080	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.46819	1.49;1.47;1.49;0.86	4.92	0.521	0.17046	.	0.497395	0.22711	N	0.056571	T	0.32436	0.0829	L	0.36672	1.1	0.21105	N	0.999789	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.52906	T	0.07	-4.1839	6.6564	0.22990	0.0:0.5189:0.1906:0.2904	.	244	Q7Z353	HDX_HUMAN	Y	244;186;244;186	ENSP00000297977:C244Y;ENSP00000362272:C186Y;ENSP00000423670:C244Y;ENSP00000387790:C186Y	ENSP00000297977:C244Y	C	-	2	0	HDX	83610656	0.967000	0.33354	0.938000	0.37757	0.539000	0.34962	0.444000	0.21661	0.133000	0.18654	-0.273000	0.10243	TGT		0.428	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		144	463	0	0	0	1	0	144	463				
ADAMTS7	11173	broad.mit.edu	37	15	79082066	79082066	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79082066C>T	ENST00000388820.4	-	7	1353	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	381	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGCCAGCGGCAGGCCCG	0.672																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1141-1143)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 7							33.0	29.0	30.0					15																	79082066		2196	4292	6488	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79082066C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1143G>A	15.37:g.79082066C>T						ADAMTS7_ENST00000566303.1_5'UTR	p.P381P	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			7	1353	-			381			Peptidase M12B.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.1143G>A	CCDS32303.1																																																																																				0.672	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		24	103	0	0	0	1	0	24	103				
RBM47	54502	broad.mit.edu	37	4	40440526	40440526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440526G>A	ENST00000381793.2	-	3	781	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RBM47_ENST00000514014.1_Missense_Mutation_p.R91C|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000319592.4_Missense_Mutation_p.R129C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGAGCTCACGCACTGCGCGC	0.627																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(385-387)Cgt>Tgt		RNA binding motif protein 47							59.0	50.0	53.0					4																	40440526		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440526G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.385C>T	4.37:g.40440526G>A	ENSP00000371212:p.Arg129Cys					RBM47_ENST00000381793.2_Missense_Mutation_p.R129C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C|RBM47_ENST00000514014.1_Missense_Mutation_p.R91C	p.R129C			A0AV96	RBM47_HUMAN			4	1094	-			129			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.385C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026464	0.54683	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.44	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.62723	1.935	0.80722	D	1	D;B	0.89917	1.0;0.024	D;B	0.63703	0.917;0.075	T	0.06534	-1.0821	10	0.87932	D	0	-17.4793	13.1056	0.59246	0.0:0.0:0.6489:0.3511	.	129;129	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	129;129;129;129;91;129;129;129;129	ENSP00000320108:R129C;ENSP00000371212:R129C;ENSP00000371214:R129C;ENSP00000295971:R129C;ENSP00000423243:R91C;ENSP00000422564:R129C;ENSP00000421589:R129C;ENSP00000423527:R129C;ENSP00000426542:R129C	ENSP00000295971:R129C	R	-	1	0	RBM47	40135283	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.959000	0.56744	2.554000	0.86153	0.313000	0.20887	CGT		0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		64	312	0	0	0	1	0	64	312				
PLCD1	5333	broad.mit.edu	37	3	38050075	38050075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38050075G>A	ENST00000334661.4	-	12	1998	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Silent_p.R613R	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	592	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTCCTGGAAGCGGCCCTGGT	0.667																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1837-1839)cgC>cgT		phospholipase C, delta 1							57.0	61.0	59.0					3																	38050075		2203	4300	6503	SO:0001819	synonymous_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050075G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1776C>T	3.37:g.38050075G>A						PLCD1_ENST00000334661.4_Silent_p.R592R	p.R613R	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	12	2192	-			592					B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	c.1839C>T	CCDS2671.1																																																																																				0.667	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			41	219	0	0	0	1	0	41	219				
RAB1B	81876	broad.mit.edu	37	11	66043577	66043577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043577C>T	ENST00000311481.6	+	6	621	c.474C>T	c.(472-474)gtC>gtT	p.V158V	RAB1B_ENST00000527397.1_Silent_p.V126V|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	158					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CCACCAATGTCGAGCAGGCGT	0.582																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(472-474)gtC>gtT		RAB1B, member RAS oncogene family							49.0	47.0	48.0					11																	66043577		2200	4295	6495	SO:0001819	synonymous_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66043577C>T	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.474C>T	11.37:g.66043577C>T						RAB1B_ENST00000527397.1_Silent_p.V126V|RP11-867G23.3_ENST00000501708.1_lincRNA	p.V158V	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN			6	621	+			158					A8K7S1	Silent	SNP	ENST00000311481.6	37	c.474C>T	CCDS31613.1	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212752	0.09757	.	.	ENSG00000174903	ENST00000314965	.	.	.	3.9	-7.79	0.01218	.	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59332	-0.7474	5	0.52906	T	0.07	.	2.8061	0.05428	0.1647:0.0972:0.3771:0.361	.	.	.	.	L	158	.	ENSP00000313814:S158L	S	+	2	0	RAB1B	65800153	0.002000	0.14202	0.181000	0.23098	0.807000	0.45602	-1.994000	0.01474	-3.387000	0.00174	0.313000	0.20887	TCG		0.582	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		24	111	0	0	0	1	0	24	111				
LCMT1	51451	broad.mit.edu	37	16	25189343	25189343	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25189343A>G	ENST00000399069.3	+	11	1159	c.1004A>G	c.(1003-1005)tAa>tGa	p.*335*	LCMT1_ENST00000380966.4_Silent_p.*280*|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	0					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATAACTTATTAATCTGTCGAA	0.607																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(1003-1005)tAa>tGa		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						75.0	80.0	79.0					16																	25189343		1892	4125	6017	SO:0001819	synonymous_variant	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25189343A>G	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.1004A>G	16.37:g.25189343A>G						LCMT1_ENST00000380966.4_Silent_p.*280*|LCMT1_ENST00000572869.1_3'UTR	p.*335*	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	11	1159	+			0					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	37	c.1004A>G	CCDS45445.1																																																																																				0.607	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		90	359	0	0	0	1	0	90	359				
PRPF3	9129	broad.mit.edu	37	1	150298269	150298269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150298269C>T	ENST00000324862.6	+	3	371	c.206C>T	c.(205-207)gCt>gTt	p.A69V	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	69	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGTTTGAGGCTGTGGAGGAA	0.458																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(205-207)gCt>gTt		pre-mRNA processing factor 3							176.0	165.0	168.0					1																	150298269		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150298269C>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.206C>T	1.37:g.150298269C>T	ENSP00000315379:p.Ala69Val					PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V	p.A69V	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	3	371	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		69			PWI.		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.206C>T	CCDS951.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243685	0.22796	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.39592	1.07;1.07	5.57	4.65	0.58169	Splicing factor PWI (4);	0.047154	0.85682	D	0.000000	T	0.13030	0.0316	N	0.16478	0.41	0.80722	D	1	B;B;B	0.25772	0.043;0.134;0.134	B;B;B	0.20577	0.022;0.03;0.03	T	0.05084	-1.0907	10	0.14656	T	0.56	-8.71	14.2142	0.65783	0.0:0.9282:0.0:0.0718	.	69;69;69	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	V	69	ENSP00000315379:A69V;ENSP00000387844:A69V	ENSP00000315379:A69V	A	+	2	0	PRPF3	148564893	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.758000	0.68776	2.785000	0.95823	0.655000	0.94253	GCT		0.458	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		147	760	0	0	0	1	0	147	760				
APBB3	10307	broad.mit.edu	37	5	139942032	139942032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139942032G>A	ENST00000357560.4	-	5	847	c.404C>T	c.(403-405)gCa>gTa	p.A135V	APBB3_ENST00000511201.2_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|APBB3_ENST00000508496.2_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	135	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCCGGTGCCAGGTCCTC	0.582																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(403-405)gCa>gTa		amyloid beta (A4) precursor protein-binding, family B, member 3							133.0	139.0	137.0					5																	139942032		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139942032G>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.404C>T	5.37:g.139942032G>A	ENSP00000350171:p.Ala135Val					APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|APBB3_ENST00000511201.2_Missense_Mutation_p.A135V	p.A135V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	847	-			135			PID 1.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.404C>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058791	0.55325	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.12	2.14	0.27477	.	0.254754	0.39985	N	0.001220	T	0.20170	0.0485	L	0.61218	1.895	0.35821	D	0.824607	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.13872	-1.0493	9	.	.	.	-0.5437	10.3978	0.44211	0.2033:0.0:0.7967:0.0	.	135;135	O95704-2;O95704-3	.;.	V	135	ENSP00000351389:A135V;ENSP00000349177:A135V;ENSP00000346378:A135V;ENSP00000350171:A135V;ENSP00000402591:A135V;ENSP00000424317:A135V	.	A	-	2	0	APBB3	139922216	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.725000	0.61979	0.113000	0.18004	-0.142000	0.14014	GCA		0.582	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		195	974	0	0	0	1	0	195	974				
HSF5	124535	broad.mit.edu	37	17	56557601	56557601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56557601C>T	ENST00000323777.3	-	2	687	c.578G>A	c.(577-579)cGg>cAg	p.R193Q		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	193					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGAAATGACCGGTGAAATTG	0.428																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(577-579)cGg>cAg		heat shock transcription factor family member 5							71.0	65.0	67.0					17																	56557601		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557601C>T	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.578G>A	17.37:g.56557601C>T	ENSP00000313243:p.Arg193Gln						p.R193Q	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	687	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		193					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.578G>A	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742215	0.89573	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.49139	0.79	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000053	T	0.54598	0.1868	N	0.24115	0.695	0.44492	D	0.997434	D	0.76494	0.999	D	0.72625	0.978	T	0.51196	-0.8736	10	0.33940	T	0.23	.	16.3777	0.83410	0.0:1.0:0.0:0.0	.	193	Q4G112	HSF5_HUMAN	Q	93;193	ENSP00000313243:R193Q	ENSP00000313243:R193Q	R	-	2	0	HSF5	53912600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.274000	0.51631	2.646000	0.89796	0.655000	0.94253	CGG		0.428	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		74	298	0	0	0	1	0	74	298				
MALAT1	378938	broad.mit.edu	37	11	65272112	65272112	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65272112C>T	ENST00000534336.1	+	0	6880					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGGACTGAAGCCTTTAGTCTT	0.368																																						ENST00000534336.1																			0																				49.0	49.0	49.0					11																	65272112		874	1988	2862			0							g.chr11:65272112C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272112C>T								NR_002819.2						0	6880	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.368	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		5	170	0	0	0	1	0	5	170				
KRT17	3872	broad.mit.edu	37	17	39777096	39777096	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777096C>A	ENST00000311208.8	-	6	1063	c.996G>T	c.(994-996)gaG>gaT	p.E332D	JUP_ENST00000540235.1_Missense_Mutation_p.E491D	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	332	Coil 2.|Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTAGCGGTTCTCTGTCTCCG	0.637																																					Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1471-1473)gaG>gaT		junction plakoglobin							49.0	50.0	49.0					17																	39777096		2202	4300	6502	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39777096C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.996G>T	17.37:g.39777096C>A	ENSP00000308452:p.Glu332Asp					KRT17_ENST00000311208.8_Missense_Mutation_p.E332D	p.E491D			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	9	1472	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1473G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076142	0.55646	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91894	-2.93;-2.93	4.0	3.03	0.35002	Filament (1);	0.138484	0.32868	N	0.005548	D	0.93252	0.7850	M	0.86268	2.805	0.23287	N	0.99798	B	0.27823	0.19	B	0.40375	0.327	D	0.88549	0.3115	10	0.72032	D	0.01	.	10.116	0.42591	0.0:0.8399:0.0:0.1601	.	332	Q04695	K1C17_HUMAN	D	332;491	ENSP00000308452:E332D;ENSP00000441751:E491D	ENSP00000441751:E491D	E	-	3	2	JUP;KRT17	37030622	0.006000	0.16342	1.000000	0.80357	0.983000	0.72400	0.138000	0.16016	2.234000	0.73211	0.462000	0.41574	GAG		0.637	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		94	327	1	0	2.1459e-41	1	2.60651e-41	94	327				
PRR3	80742	broad.mit.edu	37	6	30530251	30530251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30530251C>T	ENST00000376560.3	+	4	1005	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Silent_p.G161G	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	182							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						ACCATCCAGGCGTCAATGGAC	0.532																																						ENST00000376560.3																			0				lung(1)|ovary(1)	2						c.(544-546)ggC>ggT		proline rich 3							159.0	158.0	159.0					6																	30530251		2028	4216	6244	SO:0001819	synonymous_variant	80742						nucleic acid binding|zinc ion binding	g.chr6:30530251C>T	AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.546C>T	6.37:g.30530251C>T						PRR3_ENST00000376557.3_Silent_p.G161G|PRR3_ENST00000498336.1_3'UTR	p.G182G	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN			4	1005	+			182					A1A4H4|Q5RJB5|Q5STN6	Silent	SNP	ENST00000376560.3	37	c.546C>T	CCDS43440.1																																																																																				0.532	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076033.2	NM_025263		152	631	0	0	0	1	0	152	631				
KHDC1	80759	broad.mit.edu	37	6	73951827	73951827	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73951827C>T	ENST00000370384.3	-	4	965	c.465G>A	c.(463-465)ctG>ctA	p.L155L	RP11-257K9.8_ENST00000423730.3_Silent_p.L82L|KHDC1_ENST00000257765.5_Silent_p.L82L	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	155	KH; atypical.					integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						AAAACATGTGCAGCAGCCACT	0.537																																						ENST00000423730.3																			0											c.(244-246)ctG>ctA									63.0	67.0	66.0					6																	73951827		2052	4205	6257	SO:0001819	synonymous_variant	0							g.chr6:73951827C>T		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.465G>A	6.37:g.73951827C>T						KHDC1_ENST00000370384.3_Silent_p.L155L|KHDC1_ENST00000257765.5_Silent_p.L82L	p.L82L							3	681	-								Q5JSQ7|Q8WTV2|Q96NQ5	Silent	SNP	ENST00000370384.3	37	c.246G>A	CCDS59027.1																																																																																				0.537	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		33	136	0	0	0	1	0	33	136				
GPR112	139378	broad.mit.edu	37	X	135429170	135429170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429170C>T	ENST00000394143.1	+	6	3596	c.3305C>T	c.(3304-3306)gCa>gTa	p.A1102V	GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V|GPR112_ENST00000412101.1_Missense_Mutation_p.A897V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1102					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACATCCATGGCAGTTCCTTCT	0.478																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3304-3306)gCa>gTa		G protein-coupled receptor 112							165.0	139.0	148.0					X																	135429170		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429170C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3305C>T	X.37:g.135429170C>T	ENSP00000377699:p.Ala1102Val					GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000412101.1_Missense_Mutation_p.A897V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V	p.A1102V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3596	+	Acute lymphoblastic leukemia(192;0.000127)		1102					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3305C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009460	0.19277	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41400	1.03;1.03;1.0;1.1;1.0	2.82	-1.72	0.08107	.	.	.	.	.	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	P;B;B	0.36909	0.573;0.035;0.02	B;B;B	0.33521	0.165;0.01;0.004	T	0.15065	-1.0450	9	0.19590	T	0.45	.	2.4094	0.04420	0.409:0.3085:0.0:0.2825	.	1039;897;1102	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	1102;1102;897;1039;897	ENSP00000377699:A1102V;ENSP00000359686:A1102V;ENSP00000416526:A897V;ENSP00000287534:A1039V;ENSP00000377697:A897V	ENSP00000287534:A1039V	A	+	2	0	GPR112	135256836	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.277000	0.18734	-0.434000	0.07275	-0.413000	0.06143	GCA		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			165	599	0	0	0	1	0	165	599				
PRTG	283659	broad.mit.edu	37	15	55972411	55972411	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55972411C>A	ENST00000389286.4	-	6	862		c.e6-1		RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATTTGTGATCTATTTCAAAG	0.323																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.e6-1		protogenin							57.0	53.0	54.0					15																	55972411		1837	4088	5925	SO:0001630	splice_region_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55972411C>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.815-1G>T	15.37:g.55972411C>A								NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	6	862	-									Splice_Site	SNP	ENST00000389286.4	37		CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134080	0.77662	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0063	0.92852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRTG	53759703	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.583000	0.82559	2.809000	0.96659	0.467000	0.42956	.		0.323	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	Intron	32	131	1	0	6.00712e-18	1	6.65163e-18	32	131				
MMP17	4326	broad.mit.edu	37	12	132329707	132329707	+	Missense_Mutation	SNP	C	C	T	rs369800119		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132329707C>T	ENST00000360564.1	+	7	1115	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	MMP17_ENST00000535291.1_Missense_Mutation_p.A254V|MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535004.1_5'Flank	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	338					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CACTTTGACGCGGTGGCCCAG	0.667																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1012-1014)gCg>gTg		matrix metallopeptidase 17 (membrane-inserted)		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	114.0	107.0	109.0		1013	4.1	0.7	12		109	0,8600		0,0,4300	no	missense	MMP17	NM_016155.4	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	338/604	132329707	1,13005	2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132329707C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1013C>T	12.37:g.132329707C>T	ENSP00000353767:p.Ala338Val					MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.A254V	p.A338V	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	7	1115	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		338			Hemopexin-like 1.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1013C>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724239	0.89298	2.27E-4	0.0	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865	T;T;T	0.18810	2.19;2.19;2.19	4.12	4.12	0.48240	Hemopexin/matrixin (2);	0.133831	0.49916	D	0.000133	T	0.55353	0.1915	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	P	0.62435	0.902	T	0.72144	-0.4379	10	0.72032	D	0.01	.	16.5607	0.84565	0.0:1.0:0.0:0.0	.	338	Q9ULZ9	MMP17_HUMAN	V	338;254;179	ENSP00000353767:A338V;ENSP00000441106:A254V;ENSP00000442104:A179V	ENSP00000353767:A338V	A	+	2	0	MMP17	130895660	1.000000	0.71417	0.703000	0.30354	0.678000	0.39670	5.491000	0.66887	2.126000	0.65437	0.579000	0.79373	GCG		0.667	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		12	325	0	0	0	1	0	12	325				
GZF1	64412	broad.mit.edu	37	20	23346039	23346039	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23346039A>G	ENST00000338121.5	+	2	1096	c.1019A>G	c.(1018-1020)cAc>cGc	p.H340R	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	340					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAGCACCGCCACGGCGTGGCC	0.592																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1018-1020)cAc>cGc		GDNF-inducible zinc finger protein 1							66.0	69.0	68.0					20																	23346039		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23346039A>G	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1019A>G	20.37:g.23346039A>G	ENSP00000338290:p.His340Arg					GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron	p.H340R			Q9H116	GZF1_HUMAN			2	1096	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		340					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1019A>G	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	8.724	0.914995	0.17907	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.28895	1.59;1.59	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000006	T	0.22244	0.0536	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.05784	-1.0864	10	0.59425	D	0.04	.	12.808	0.57624	1.0:0.0:0.0:0.0	.	340	Q9H116	GZF1_HUMAN	R	340	ENSP00000338290:H340R;ENSP00000366250:H340R	ENSP00000338290:H340R	H	+	2	0	GZF1	23294039	1.000000	0.71417	0.536000	0.28039	0.013000	0.08279	9.087000	0.94110	1.879000	0.54435	0.455000	0.32223	CAC		0.592	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		106	594	0	0	0	1	0	106	594				
RP13-60M5.2	0	broad.mit.edu	37	9	91262260	91262260	+	lincRNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91262260A>G	ENST00000418343.2	-	0	491																											AACCAAACTAACATGATTTTC	0.433																																						ENST00000418343.2																			0																				26.0	26.0	26.0					9																	91262260		1900	4125	6025			0							g.chr9:91262260A>G																													9.37:g.91262260A>G														0	491	-									RNA	SNP	ENST00000418343.2	37																																																																																						0.433	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2			6	71	0	0	0	1	0	6	71				
CXorf22	170063	broad.mit.edu	37	X	35989849	35989849	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35989849G>A	ENST00000297866.5	+	12	2183	c.2117G>A	c.(2116-2118)aGg>aAg	p.R706K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	706										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTAACCACCAGGGGTATAGCA	0.423																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2116-2118)aGg>aAg		chromosome X open reading frame 22							56.0	50.0	52.0					X																	35989849		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989849G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2117G>A	X.37:g.35989849G>A	ENSP00000297866:p.Arg706Lys						p.R706K	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			12	2183	+			706					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2117G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	5.452	0.268478	0.10349	.	.	ENSG00000165164	ENST00000297866	T	0.13196	2.61	5.84	-2.93	0.05598	.	0.684196	0.15211	N	0.274441	T	0.08088	0.0202	L	0.45581	1.43	0.09310	N	1	B	0.23377	0.084	B	0.18561	0.022	T	0.46261	-0.9204	10	0.02654	T	1	-2.1449	7.5875	0.28002	0.5459:0.1236:0.3305:0.0	.	706	Q6ZTR5	CX022_HUMAN	K	706	ENSP00000297866:R706K	ENSP00000297866:R706K	R	+	2	0	CXorf22	35899770	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.330000	0.19715	-0.666000	0.05310	-0.191000	0.12829	AGG		0.423	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		15	296	0	0	0	1	0	15	296				
BTK	695	broad.mit.edu	37	X	100615114	100615114	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100615114G>A	ENST00000308731.7	-	9	964	c.801C>T	c.(799-801)aaC>aaT	p.N267N	BTK_ENST00000372880.1_Silent_p.N267N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	267	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		Missing (in XLA; severe). {ECO:0000269|PubMed:7849721}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGTGACATAGTTACTAGGAA	0.448									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(799-801)aaC>aaT		Bruton agammaglobulinemia tyrosine kinase							171.0	140.0	150.0					X																	100615114		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100615114G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.801C>T	X.37:g.100615114G>A						BTK_ENST00000372880.1_Silent_p.N267N	p.N267N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			9	964	-			267		Missing (in XLA; severe).	SH3.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.801C>T	CCDS14482.1																																																																																				0.448	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		118	377	0	0	0	1	0	118	377				
CCDC174	51244	broad.mit.edu	37	3	14703105	14703105	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14703105G>A	ENST00000383794.3	+	5	449	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CCDC174_ENST00000303688.7_Missense_Mutation_p.E126K	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	126						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAAGAAATGGAGGCATCTGG	0.458																																						ENST00000383794.3																			0											c.(376-378)Gag>Aag		coiled-coil domain containing 174							127.0	121.0	123.0					3																	14703105		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14703105G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.376G>A	3.37:g.14703105G>A	ENSP00000373304:p.Glu126Lys					CCDC174_ENST00000303688.7_Missense_Mutation_p.E126K	p.E126K	NM_016474.4	NP_057558.3					5	449	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.376G>A	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509475	0.64522	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.48836	0.8;0.86	5.65	1.65	0.23941	.	0.506471	0.22097	N	0.064676	T	0.24699	0.0599	N	0.20986	0.625	0.09310	N	0.999999	B	0.25441	0.126	B	0.18263	0.021	T	0.11397	-1.0589	10	0.13853	T	0.58	-19.5421	5.0934	0.14720	0.0857:0.4464:0.346:0.1219	.	126	Q6PII3	CC019_HUMAN	K	126;126;31	ENSP00000373304:E126K;ENSP00000302344:E126K	ENSP00000285042:E31K	E	+	1	0	C3orf19	14678109	0.946000	0.32159	0.157000	0.22605	0.936000	0.57629	2.108000	0.41854	0.717000	0.32145	0.467000	0.42956	GAG		0.458	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		25	622	0	0	0	1	0	25	622				
SDK1	221935	broad.mit.edu	37	7	4285374	4285374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4285374C>T	ENST00000404826.2	+	44	6457	c.6318C>T	c.(6316-6318)aaC>aaT	p.N2106N	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.N2086N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2106					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAAGTACAACGGCGCCGTGC	0.602																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(6316-6318)aaC>aaT		sidekick cell adhesion molecule 1							87.0	76.0	80.0					7																	4285374		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4285374C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6318C>T	7.37:g.4285374C>T						SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.N2086N	p.N2106N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	44	6457	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	2106					Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.6318C>T	CCDS34590.1																																																																																				0.602	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		64	296	0	0	0	1	0	64	296				
MEGF8	1954	broad.mit.edu	37	19	42880264	42880264	+	Silent	SNP	C	C	T	rs572813671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42880264C>T	ENST00000251268.6	+	42	7875	c.7875C>T	c.(7873-7875)ccC>ccT	p.P2625P	MEGF8_ENST00000334370.4_Silent_p.P2558P|MEGF8_ENST00000378073.4_Silent_p.P219P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2625					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAAGTGGGCCCGGCGCCAACG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		14191	0.0		0.0	False		,,,				2504	0.001					ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(7672-7674)ccC>ccT		multiple EGF-like-domains 8							32.0	30.0	31.0					19																	42880264		2203	4299	6502	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880264C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7875C>T	19.37:g.42880264C>T						MEGF8_ENST00000378073.4_Silent_p.P219P|MEGF8_ENST00000251268.6_Silent_p.P2625P	p.P2558P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			41	8309	+		Prostate(69;0.00682)	2625			Pro-rich.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.7674C>T																																																																																					0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	336	0	0	0	1	0	7	336				
ATP2A3	489	broad.mit.edu	37	17	3854899	3854899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3854899G>A	ENST00000352011.3	-	4	354	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ATP2A3_ENST00000359983.3_Silent_p.A100A|ATP2A3_ENST00000309890.7_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.A100A			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	100					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAATGGCGTTGGCCACGAGGA	0.687																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(298-300)gcC>gcT		ATPase, Ca++ transporting, ubiquitous							38.0	28.0	32.0					17																	3854899		2200	4299	6499	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3854899G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.300C>T	17.37:g.3854899G>A						ATP2A3_ENST00000359983.3_Silent_p.A100A|ATP2A3_ENST00000397035.3_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000352011.3_Silent_p.A100A	p.A100A	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	4	450	-			100					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.300C>T	CCDS11041.1																																																																																				0.687	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		19	79	0	0	0	1	0	19	79				
ANAPC2	29882	broad.mit.edu	37	9	140069920	140069920	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069920G>T	ENST00000323927.2	-	12	2029	c.2025C>A	c.(2023-2025)agC>agA	p.S675R	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	675					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCAGGGTCCAGCTGGCTGCGT	0.721																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(2023-2025)agC>agA		anaphase promoting complex subunit 2							13.0	12.0	12.0					9																	140069920		2174	4274	6448	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140069920G>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2025C>A	9.37:g.140069920G>T	ENSP00000314004:p.Ser675Arg					ANAPC2_ENST00000487917.1_5'UTR	p.S675R	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	12	2029	-	all_cancers(76;0.0926)		675					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.2025C>A	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284595	0.23392	.	.	ENSG00000176248	ENST00000323927	T	0.73897	-0.79	4.42	3.53	0.40419	Cullin, N-terminal (1);Cullin homology (2);	0.332246	0.33712	N	0.004630	T	0.47507	0.1449	N	0.04335	-0.225	0.45676	D	0.998596	B;B	0.14012	0.009;0.007	B;B	0.20384	0.029;0.017	T	0.26121	-1.0112	10	0.20519	T	0.43	-19.6738	6.1082	0.20086	0.1034:0.1904:0.7061:0.0	.	675;672	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	R	675	ENSP00000314004:S675R	ENSP00000314004:S675R	S	-	3	2	ANAPC2	139189741	1.000000	0.71417	0.997000	0.53966	0.748000	0.42578	0.928000	0.28831	1.074000	0.40909	0.555000	0.69702	AGC		0.721	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		12	39	1	0	0.00010058	1	0.000102273	12	39				
OBSL1	23363	broad.mit.edu	37	2	220419272	220419272	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220419272G>A	ENST00000404537.1	-	15	4856	c.4800C>T	c.(4798-4800)ggC>ggT	p.G1600G	OBSL1_ENST00000373876.1_Silent_p.G1508G|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1600					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCAGGCCCAGGCCATTGAGTA	0.637																																						ENST00000404537.1																			0											c.(4798-4800)ggC>ggT		obscurin-like 1							36.0	46.0	42.0					2																	220419272		2129	4223	6352	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220419272G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4800C>T	2.37:g.220419272G>A						OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.G1508G	p.G1600G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	15	4856	-		Renal(207;0.0376)	1600					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.4800C>T	CCDS46520.1																																																																																				0.637	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			9	212	0	0	0	1	0	9	212				
DCP1B	196513	broad.mit.edu	37	12	2062369	2062369	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062369G>T	ENST00000280665.6	-	7	816	c.737C>A	c.(736-738)cCt>cAt	p.P246H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H|DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	246					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGTCTGCGGAGGCTCCACAGT	0.527																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(736-738)cCt>cAt		decapping mRNA 1B							43.0	48.0	46.0					12																	2062369		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062369G>T	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.737C>A	12.37:g.2062369G>T	ENSP00000280665:p.Pro246His					DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H	p.P246H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	816	-			246					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.737C>A	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329106	0.24167	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23147	2.01;1.99;1.92	4.93	-0.695	0.11291	.	0.896531	0.09811	N	0.752777	T	0.13072	0.0317	N	0.21448	0.665	0.09310	N	1	B;B	0.17038	0.003;0.02	B;B	0.16722	0.005;0.016	T	0.31696	-0.9934	10	0.31617	T	0.26	-0.0327	1.402	0.02273	0.2313:0.1138:0.3995:0.2554	.	144;246	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	246;144;120	ENSP00000280665:P246H;ENSP00000380358:P144H;ENSP00000444374:P120H	ENSP00000280665:P246H	P	-	2	0	DCP1B	1932630	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.047000	0.14056	0.012000	0.14892	0.650000	0.86243	CCT		0.527	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		55	229	1	0	2.23322e-12	1	2.39693e-12	55	229				
CCNE1	898	broad.mit.edu	37	19	30313164	30313164	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313164C>A	ENST00000262643.3	+	10	1137	c.858C>A	c.(856-858)gtC>gtA	p.V286V	CCNE1_ENST00000357943.5_Silent_p.V243V|CCNE1_ENST00000444983.2_Silent_p.V271V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	286					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCTCTGTGTCCTGGATGTTG	0.473			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(856-858)gtC>gtA		cyclin E1							332.0	266.0	288.0					19																	30313164		2203	4300	6503	SO:0001819	synonymous_variant	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30313164C>A	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.858C>A	19.37:g.30313164C>A						CCNE1_ENST00000357943.5_Silent_p.V243V|CCNE1_ENST00000444983.2_Silent_p.V271V	p.V286V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		10	1137	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		286					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	ENST00000262643.3	37	c.858C>A	CCDS12419.1																																																																																				0.473	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		144	628	1	0	1.46275e-61	1	1.84202e-61	144	628				
C17orf62	79415	broad.mit.edu	37	17	80402326	80402326	+	Missense_Mutation	SNP	C	C	T	rs143814965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80402326C>T	ENST00000437807.2	-	7	757	c.440G>A	c.(439-441)cGc>cAc	p.R147H	C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	147						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCTTACCTGCGGTGGCCCAT	0.632																																						ENST00000437807.2																			0				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8						c.(439-441)cGc>cAc		chromosome 17 open reading frame 62		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	88.0	76.0	80.0		440,440,398,440,440,440,440	4.8	1.0	17	dbSNP_134	80	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense,missense,missense	C17orf62	NM_001033046.3,NM_001100407.2,NM_001100408.2,NM_001193653.1,NM_001193654.1,NM_001193655.1,NM_001193657.1	29,29,29,29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	147/188,147/188,133/174,147/188,147/188,147/188,147/188	80402326	3,13003	2203	4300	6503	SO:0001583	missense	79415					integral to membrane	protein binding	g.chr17:80402326C>T	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.440G>A	17.37:g.80402326C>T	ENSP00000388909:p.Arg147His					C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000336995.7_5'UTR	p.R147H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	757	-	Breast(20;0.00106)|all_neural(118;0.0804)		147					E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	c.440G>A	CCDS32776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.47|19.47	3.834230|3.834230	0.71373|0.71373	0.0|0.0	3.49E-4|3.49E-4	ENSG00000178927|ENSG00000178927	ENST00000342572|ENST00000536759;ENST00000437807;ENST00000306645;ENST00000434650	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|.	.|.	.|.	.|.	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.933;0.998	T|T	0.78548|0.78548	-0.2162|-0.2162	6|8	0.87932|0.48119	D|T	0|0.1	.|.	16.9278|16.9278	0.86181|0.86181	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;147	.|E1B6X3;Q9BQA9	.|.;CQ062_HUMAN	T|H	37|4;147;147;133	.|.	ENSP00000342228:A37T|ENSP00000307765:R147H	A|R	-|-	1|2	0|0	C17orf62|C17orf62	77995615|77995615	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.681000|0.681000	0.39784|0.39784	2.764000|2.764000	0.47613|0.47613	2.229000|2.229000	0.72834|0.72834	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.632	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		52	277	0	0	0	1	0	52	277				
LMNTD1	160492	broad.mit.edu	37	12	25699363	25699363	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25699363T>C	ENST00000282881.6	-	3	522	c.373A>G	c.(373-375)Aaa>Gaa	p.K125E	IFLTD1_ENST00000539744.1_Missense_Mutation_p.K28E|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		125					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTAAAGTTTTCTGAGTGTAG	0.358																																						ENST00000539744.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(82-84)Aaa>Gaa		intermediate filament tail domain containing 1							90.0	88.0	89.0					12																	25699363		2203	4299	6502	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25699363T>C																												ENST00000282881.6:c.373A>G	12.37:g.25699363T>C	ENSP00000282881:p.Lys125Glu					IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000282881.6_Missense_Mutation_p.K125E	p.K28E	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN			4	561	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		125					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.82A>G	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783311	0.31593	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.15718	2.61;2.66;2.61;2.63;2.4	4.9	2.19	0.27852	.	.	.	.	.	T	0.11750	0.0286	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.42941	0.458;0.794;0.793;0.689	B;B;B;B	0.42738	0.194;0.194;0.396;0.223	T	0.20505	-1.0273	9	0.25106	T	0.35	-14.7294	6.9359	0.24466	0.0:0.1707:0.0:0.8293	.	62;146;146;125	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	E	125;28;146;62;146;100;100	ENSP00000282881:K125E;ENSP00000443132:K28E;ENSP00000407353:K146E;ENSP00000407043:K62E;ENSP00000393150:K146E	ENSP00000282881:K125E	K	-	1	0	IFLTD1	25590630	0.014000	0.17966	0.018000	0.16275	0.004000	0.04260	1.174000	0.31932	0.326000	0.23384	0.533000	0.62120	AAA		0.358	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			61	236	0	0	0	1	0	61	236				
MSH6	2956	broad.mit.edu	37	2	48030670	48030670	+	Missense_Mutation	SNP	G	G	A	rs63750253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48030670G>A	ENST00000234420.5	+	5	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	MSH6_ENST00000538136.1_Missense_Mutation_p.R793H|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1095			R -> H (in CRC; unknown pathological significance; mismatch repair proficient). {ECO:0000269|PubMed:12522549}.		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.R1095H(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGATCACGCCATCCTTGC	0.458			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		4	Substitution - Missense(2)|Whole gene deletion(2)	p.0?(2)|p.R1095H(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229	GRCh37	CM030237	MSH6	M	rs63750253	c.(3283-3285)cGc>cAc	Mismatch excision repair (MMR)	mutS homolog 6							135.0	118.0	124.0					2																	48030670		2203	4300	6503	SO:0001583	missense	2956	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	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48030670G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3284G>A	2.37:g.48030670G>A	ENSP00000234420:p.Arg1095His					FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H|MSH6_ENST00000538136.1_Missense_Mutation_p.R793H	p.R1095H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	3436	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1095		R -> H (in CRC; uncertain pathogenicity).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.3284G>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804382	0.90623	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.87334	-2.24;-2.24;-2.24	5.38	5.38	0.77491	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.978	D	0.97321	0.9944	10	0.51188	T	0.08	-10.4918	19.1221	0.93367	0.0:0.0:1.0:0.0	rs63750253	965;1095	B4DF41;P52701	.;MSH6_HUMAN	H	1095;63;965;793	ENSP00000234420:R1095H;ENSP00000446475:R965H;ENSP00000438580:R793H	ENSP00000234420:R1095H	R	+	2	0	MSH6	47884174	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	9.835000	0.99442	2.528000	0.85240	0.491000	0.48974	CGC		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		81	285	0	0	0	1	0	81	285				
COL15A1	1306	broad.mit.edu	37	9	101782700	101782700	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101782700A>G	ENST00000375001.3	+	12	2100	c.1677A>G	c.(1675-1677)ggA>ggG	p.G559G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	559	Triple-helical region 1 (COL1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAATGAAAGGACAGGCTGGGC	0.453																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1675-1677)ggA>ggG		collagen, type XV, alpha 1							148.0	129.0	135.0					9																	101782700		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101782700A>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1677A>G	9.37:g.101782700A>G							p.G559G	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			12	2100	+		Acute lymphoblastic leukemia(62;0.0562)	559			Triple-helical region 1 (COL1).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1677A>G	CCDS35081.1																																																																																				0.453	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		35	212	0	0	0	1	0	35	212				
DOCK2	1794	broad.mit.edu	37	5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169503008C>T	ENST00000256935.8	+	47	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1596	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATAACTTGCGACCCTTCCA	0.502																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4786-4788)Cga>Tga		dedicator of cytokinesis 2							161.0	158.0	159.0					5																	169503008		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169503008C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4786C>T	5.37:g.169503008C>T	ENSP00000256935:p.Arg1596*					DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*	p.R1596*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		47	4866	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1596			DHR-2.		Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.4786C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	50	17.264852	0.99882	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.18	3.34	0.38264	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3087	0.66400	0.2713:0.7287:0.0:0.0	.	.	.	.	X	1596;1088;657	.	ENSP00000256935:R1596X	R	+	1	2	DOCK2	169435586	1.000000	0.71417	0.994000	0.49952	0.509000	0.34042	1.863000	0.39459	0.655000	0.30866	-0.158000	0.13435	CGA		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		126	604	0	0	0	1	0	126	604				
PIGL	9487	broad.mit.edu	37	17	16120611	16120611	+	Missense_Mutation	SNP	C	C	T	rs373994072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120611C>T	ENST00000225609.5	+	1	88	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PIGL_ENST00000395844.4_Missense_Mutation_p.S24F|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F|PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000463810.1_3'UTR	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	24					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GTTTGGGACTCCTCAGAACGA	0.587																																						ENST00000225609.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(70-72)tCc>tTc		phosphatidylinositol glycan anchor biosynthesis, class L							109.0	98.0	102.0					17																	16120611		2203	4300	6503	SO:0001583	missense	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16120611C>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.71C>T	17.37:g.16120611C>T	ENSP00000225609:p.Ser24Phe					PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000395844.3_Missense_Mutation_p.S24F|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F	p.S24F	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	1	88	+			24					A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	37	c.71C>T	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667515	0.29604	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.78364	-1.1;-1.17	5.49	-1.33	0.09172	.	1.039030	0.07536	N	0.913102	T	0.60612	0.2282	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.39981	-0.9587	10	0.09843	T	0.71	-0.3025	5.2966	0.15756	0.0:0.4091:0.1566:0.4343	.	24;24	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	F	24	ENSP00000225609:S24F;ENSP00000379185:S24F	ENSP00000225609:S24F	S	+	2	0	PIGL	16061336	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.094000	0.11094	0.016000	0.14998	0.655000	0.94253	TCC		0.587	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			69	255	0	0	0	1	0	69	255				
UBA2	10054	broad.mit.edu	37	19	34925772	34925772	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34925772G>T	ENST00000246548.4	+	5	428		c.e5-1		UBA2_ENST00000439527.2_Splice_Site	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2						cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTACTTCCAGCTGCCCGAAA	0.353																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.e5-1		ubiquitin-like modifier activating enzyme 2							36.0	33.0	34.0					19																	34925772		2202	4300	6502	SO:0001630	splice_region_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34925772G>T	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.359-1G>T	19.37:g.34925772G>T						UBA2_ENST00000246548.4_Splice_Site				Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		5	568	+	Esophageal squamous(110;0.162)							B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Splice_Site	SNP	ENST00000246548.4	37		CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210801	0.79240	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1589	0.89702	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBA2	39617612	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.095000	0.94175	2.570000	0.86706	0.655000	0.94253	.		0.353	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	Intron	17	28	1	0	4.7546e-09	1	4.99022e-09	17	28				
ZFP28	140612	broad.mit.edu	37	19	57060343	57060343	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57060343G>T	ENST00000301318.3	+	5	611	c.540G>T	c.(538-540)tgG>tgT	p.W180C	ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGCTGTGTGGAAGATCAAGG	0.378																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(538-540)tgG>tgT		ZFP28 zinc finger protein							62.0	58.0	59.0					19																	57060343		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57060343G>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.540G>T	19.37:g.57060343G>T	ENSP00000301318:p.Trp180Cys					AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C	p.W180C	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	5	611	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	180					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.540G>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	0.161	-1.080813	0.01888	.	.	ENSG00000196867	ENST00000301318	T	0.04970	3.52	4.34	-0.623	0.11556	.	2.748390	0.01538	N	0.019092	T	0.04634	0.0126	N	0.05230	-0.09	0.09310	N	1	B;P	0.47762	0.0;0.9	B;P	0.45913	0.0;0.497	T	0.15150	-1.0447	10	0.37606	T	0.19	.	4.3467	0.11136	0.251:0.0:0.5953:0.1537	.	180;180	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	C	180	ENSP00000301318:W180C	ENSP00000301318:W180C	W	+	3	0	ZFP28	61752155	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.339000	0.07832	-0.073000	0.12842	0.655000	0.94253	TGG		0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		26	145	1	0	8.24728e-16	1	9.03206e-16	26	145				
BTBD11	121551	broad.mit.edu	37	12	108051379	108051379	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108051379C>A	ENST00000280758.5	+	17	3727	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M	BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M|BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1067						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAAGCAGCTCCTGTATGACAA	0.473																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3199-3201)Ctg>Atg		BTB (POZ) domain containing 11							124.0	113.0	117.0					12																	108051379		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108051379C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3199C>A	12.37:g.108051379C>A	ENSP00000280758:p.Leu1067Met					BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M|BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M	p.L1067M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			17	3727	+			1067					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.3199C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568358	0.65651	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.47177	1.05;1.26;0.85;1.1	5.84	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.73962	2.25	0.53688	D	0.999978	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.67757	-0.5588	10	0.87932	D	0	.	9.906	0.41377	0.0:0.8103:0.0:0.1897	.	604;1067	E9PHS4;A6QL63	.;BTBDB_HUMAN	M	1067;948;604;146	ENSP00000280758:L1067M;ENSP00000413889:L948M;ENSP00000349690:L604M;ENSP00000448322:L146M	ENSP00000280758:L1067M	L	+	1	2	BTBD11	106575509	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	1.777000	0.38604	2.760000	0.94817	0.655000	0.94253	CTG		0.473	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		88	292	1	0	2.3666e-43	1	2.88907e-43	88	292				
REC8	9985	broad.mit.edu	37	14	24642111	24642111	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24642111G>A	ENST00000311457.3	+	4	728	c.129G>A	c.(127-129)gaG>gaA	p.E43E	REC8_ENST00000559919.1_Silent_p.E43E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	43					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCCCCAGCGAGGAAATCCTCA	0.647																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(127-129)gaG>gaA		REC8 meiotic recombination protein							54.0	62.0	59.0					14																	24642111		2043	4178	6221	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642111G>A	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.129G>A	14.37:g.24642111G>A						REC8_ENST00000559919.1_Silent_p.E43E	p.E43E			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	728	+			43					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.129G>A	CCDS41932.1																																																																																				0.647	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		79	337	0	0	0	1	0	79	337				
UBR3	130507	broad.mit.edu	37	2	170815035	170815035	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170815035T>G	ENST00000272793.5	+	24	3683	c.3633T>G	c.(3631-3633)gtT>gtG	p.V1211V	UBR3_ENST00000418381.1_Splice_Site_p.V1211V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1211					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAATGGATGTTGGTAAGTCAA	0.353																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.e24+1		ubiquitin protein ligase E3 component n-recognin 3 (putative)							78.0	84.0	82.0					2																	170815035		2203	4300	6503	SO:0001630	splice_region_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170815035T>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3634+1T>G	2.37:g.170815035T>G						UBR3_ENST00000418381.1_Splice_Site_p.V1211_splice	p.V1211_splice			Q6ZT12	UBR3_HUMAN			24	3683	+			1211					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Splice_Site	SNP	ENST00000272793.5	37	c.3634_splice		.	.	.	.	.	.	.	.	.	.	T	15.05	2.717807	0.48622	.	.	ENSG00000144357	ENST00000392632	.	.	.	6.04	4.86	0.63082	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62784	-0.6781	4	.	.	.	.	12.414	0.55483	0.0:0.066:0.0:0.9339	.	.	.	.	W	269	.	.	L	+	2	0	UBR3	170523281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.746000	0.47467	1.066000	0.40716	0.523000	0.50628	TTG		0.353	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	Silent	64	361	0	0	0	1	0	64	361				
WBP11	51729	broad.mit.edu	37	12	14947480	14947480	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14947480G>T	ENST00000261167.2	-	7	945	c.712C>A	c.(712-714)Cct>Act	p.P238T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	238					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCAAGTTCAGGACTATATAAC	0.428																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(712-714)Cct>Act		WW domain binding protein 11							197.0	208.0	204.0					12																	14947480		2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947480G>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.712C>A	12.37:g.14947480G>T	ENSP00000261167:p.Pro238Thr					WBP11_ENST00000537574.1_Missense_Mutation_p.P238T	p.P238T	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			7	945	-			238					Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.712C>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355146	0.41700	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	.	0.411905	0.26072	N	0.026504	T	0.62344	0.2420	L	0.40543	1.245	0.48632	D	0.999686	D	0.64830	0.994	P	0.62885	0.908	T	0.54450	-0.8292	9	0.12766	T	0.61	-6.7753	14.7645	0.69629	0.0:0.0:1.0:0.0	.	238	Q9Y2W2	WBP11_HUMAN	T	238	.	ENSP00000261167:P238T	P	-	1	0	WBP11	14838747	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.762000	0.55250	2.437000	0.82529	0.655000	0.94253	CCT		0.428	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		63	1510	1	0	1.60099e-16	1	1.75945e-16	63	1510				
SPHK1	8877	broad.mit.edu	37	17	74383248	74383248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74383248C>T	ENST00000545180.1	+	8	1545	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S|SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	246					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	GGAGCCAGTGCCCTCTCACTG	0.627																																					GBM(90;966 1307 27369 33775 44498)	ENST00000545180.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						c.(736-738)Ccc>Tcc		sphingosine kinase 1							57.0	43.0	47.0					17																	74383248		2203	4300	6503	SO:0001583	missense	8877				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	g.chr17:74383248C>T	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.736C>T	17.37:g.74383248C>T	ENSP00000440970:p.Pro246Ser					SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S|SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S	p.P246S			Q9NYA1	SPHK1_HUMAN			8	1545	+			246					Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	37	c.736C>T	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601439	0.87055	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.28255	1.7;1.62;1.7	5.08	5.08	0.68730	.	0.054040	0.85682	D	0.000000	T	0.45816	0.1361	L	0.43646	1.37	0.58432	D	0.999999	P;P;D	0.71674	0.537;0.942;0.998	B;P;P	0.61003	0.237;0.562;0.882	T	0.30238	-0.9985	10	0.41790	T	0.15	-10.889	18.4809	0.90811	0.0:1.0:0.0:0.0	.	332;260;246	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	S	246;332;246;245	ENSP00000440970:P246S;ENSP00000313681:P332S;ENSP00000376285:P246S	ENSP00000313681:P332S	P	+	1	0	SPHK1	71894843	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.543000	0.60684	2.346000	0.79739	0.563000	0.77884	CCC		0.627	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		16	114	0	0	0	1	0	16	114				
MUC16	94025	broad.mit.edu	37	19	9047105	9047105	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047105A>C	ENST00000397910.4	-	5	34729	c.34526T>G	c.(34525-34527)tTt>tGt	p.F11509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11511	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTATGGGAAAACTTGGGAGT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34525-34527)tTt>tGt		mucin 16, cell surface associated							150.0	146.0	148.0					19																	9047105		2058	4202	6260	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047105A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34526T>G	19.37:g.9047105A>C	ENSP00000381008:p.Phe11509Cys						p.F11509C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34729	-			11511			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34526T>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.552	-0.091455	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.02197	4.4	2.48	1.45	0.22620	.	.	.	.	.	T	0.05640	0.0148	L	0.55481	1.735	.	.	.	D	0.61080	0.989	P	0.59012	0.85	T	0.25152	-1.0140	8	0.87932	D	0	.	4.1958	0.10443	0.8262:0.0:0.1738:0.0	.	11509	B5ME49	.	C	11509	ENSP00000381008:F11509C	ENSP00000381008:F11509C	F	-	2	0	MUC16	8908105	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.007000	0.12810	0.381000	0.24851	0.478000	0.44815	TTT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		88	433	0	0	0	1	0	88	433				
FBXW9	84261	broad.mit.edu	37	19	12800936	12800936	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12800936A>T	ENST00000380339.3	-	6	998	c.962T>A	c.(961-963)aTc>aAc	p.I321N	CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000544494.1_Intron|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000587955.1_Missense_Mutation_p.I311N			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	321					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTCATGGGTGATGGGCCGGTG	0.632																																						ENST00000380339.3																			0				cervix(1)|lung(4)|ovary(1)|prostate(1)	7						c.(961-963)aTc>aAc		F-box and WD repeat domain containing 9							71.0	79.0	76.0					19																	12800936		2202	4300	6502	SO:0001583	missense	84261						protein binding	g.chr19:12800936A>T	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.962T>A	19.37:g.12800936A>T	ENSP00000369696:p.Ile321Asn					FBXW9_ENST00000587955.1_Missense_Mutation_p.I311N|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Intron	p.I321N			Q5XUX1	FBXW9_HUMAN			6	998	-			321					B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37	c.962T>A		.	.	.	.	.	.	.	.	.	.	A	10.55	1.380447	0.24944	.	.	ENSG00000132004	ENST00000380339	T	0.48522	0.81	3.58	0.0602	0.14335	.	3.720110	0.01781	U	0.031735	T	0.31199	0.0789	.	.	.	0.09310	N	1	B	0.32160	0.358	B	0.29440	0.102	T	0.13124	-1.0521	8	.	.	.	.	5.5629	0.17154	0.5412:0.0:0.4588:0.0	.	311	Q5XUX1-2	.	N	321	ENSP00000369696:I321N	.	I	-	2	0	FBXW9	12661936	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.229000	0.17833	0.071000	0.16664	0.402000	0.26972	ATC		0.632	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		64	261	0	0	0	1	0	64	261				
DUS4L	11062	broad.mit.edu	37	7	107214206	107214206	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107214206C>T	ENST00000265720.3	+	5	658	c.296C>T	c.(295-297)gCt>gTt	p.A99V	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	99							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTATCTGATGCTGCTCGTATA	0.378																																						ENST00000265720.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(295-297)gCt>gTt		dihydrouridine synthase 4-like (S. cerevisiae)							269.0	246.0	253.0					7																	107214206		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107214206C>T	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.296C>T	7.37:g.107214206C>T	ENSP00000265720:p.Ala99Val					DUS4L_ENST00000402620.1_Intron	p.A99V	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN			5	658	+			99					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.296C>T	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142670	0.94560	.	.	ENSG00000105865	ENST00000265720	T	0.38722	1.12	5.98	5.08	0.68730	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.71560	-0.4556	10	0.49607	T	0.09	.	16.3562	0.83236	0.133:0.867:0.0:0.0	.	99	O95620	DUS4L_HUMAN	V	99	ENSP00000265720:A99V	ENSP00000265720:A99V	A	+	2	0	DUS4L	107001442	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	1.473000	0.48159	0.563000	0.77884	GCT		0.378	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		181	847	0	0	0	1	0	181	847				
TUBB3	10381	broad.mit.edu	37	16	90001610	90001610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90001610C>T	ENST00000315491.7	+	4	874	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.R179C|TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	251					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CGCTGACCTGCGCAAGCTGGC	0.687																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(535-537)Cgc>Tgc		tubulin, beta 3 class III							44.0	42.0	43.0					16																	90001610		2198	4300	6498	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001610C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.751C>T	16.37:g.90001610C>T	ENSP00000320295:p.Arg251Cys					TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C|TUBB3_ENST00000315491.7_Missense_Mutation_p.R251C|TUBB3_ENST00000555576.1_Intron	p.R179C			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2830	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	251					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.535C>T	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317313	0.40996	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	D;D;T;D;D	0.84873	-1.91;-1.91;-1.0;-1.91;-1.91	4.67	4.67	0.58626	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000019	D	0.93926	0.8056	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95181	0.8299	9	.	.	.	.	17.5189	0.87782	0.0:1.0:0.0:0.0	.	251;251	Q13509;B2RBD5	TBB3_HUMAN;.	C	598;251;179;179;179;251	ENSP00000451560:R598C;ENSP00000302777:R179C;ENSP00000450538:R179C;ENSP00000451617:R179C;ENSP00000320295:R251C	.	R	+	1	0	RP11-566K11.2;TUBB3	88529111	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.385000	0.44371	2.316000	0.78162	0.407000	0.27541	CGC		0.687	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		122	348	0	0	0	1	0	122	348				
PTPRD	5789	broad.mit.edu	37	9	8636839	8636839	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636839G>A	ENST00000381196.4	-	10	613	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	24	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAACCTTGGAGGTGCTGAA	0.458										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(70-72)Cca>Tca		protein tyrosine phosphatase, receptor type, D							60.0	63.0	62.0					9																	8636839		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636839G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.70C>T	9.37:g.8636839G>A	ENSP00000370593:p.Pro24Ser	TSP Lung(15;0.13)				PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S	p.P24S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	10	613	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	24			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.70C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013073	0.93346	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	D;D;D;D;D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;0.997;0.999;1.0;0.997;1.0	D	0.96334	0.9246	9	.	.	.	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	24;24;24;24;24;24;24;24;24;24	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	24	ENSP00000370593:P24S;ENSP00000348812:P24S;ENSP00000353187:P24S;ENSP00000351293:P24S;ENSP00000347373:P24S;ENSP00000380741:P24S;ENSP00000380735:P24S;ENSP00000440515:P24S;ENSP00000438164:P24S;ENSP00000417093:P24S;ENSP00000380731:P24S;ENSP00000417661:P24S;ENSP00000417890:P24S	.	P	-	1	0	PTPRD	8626839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.782000	0.99034	2.764000	0.94973	0.650000	0.86243	CCA		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			56	340	0	0	0	1	0	56	340				
HERC5	51191	broad.mit.edu	37	4	89389501	89389501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89389501C>T	ENST00000264350.3	+	8	1215	c.1062C>T	c.(1060-1062)agC>agT	p.S354S	HERC5_ENST00000508159.1_5'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	354					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S354S(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTCAGAAAGCCATACCTCAG	0.343																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			1	Substitution - coding silent(1)	p.S354S(1)	endometrium(1)	NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(1060-1062)agC>agT		HECT and RLD domain containing E3 ubiquitin protein ligase 5							98.0	101.0	100.0					4																	89389501		2203	4300	6503	SO:0001819	synonymous_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89389501C>T	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1062C>T	4.37:g.89389501C>T						HERC5_ENST00000508159.1_5'UTR	p.S354S	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	8	1215	+		Hepatocellular(203;0.114)	354					B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	c.1062C>T	CCDS3630.1																																																																																				0.343	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		9	365	0	0	0	1	0	9	365				
KIAA0391	9692	broad.mit.edu	37	14	35593373	35593373	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35593373C>T	ENST00000557565.1	+	2	1303	c.922C>T	c.(922-924)Cta>Tta	p.L308L	PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.L308L|KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000250377.7_Silent_p.L213L|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000604948.1_Silent_p.L213L|KIAA0391_ENST00000321130.10_Silent_p.L308L	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	308					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCTTTCATATCTAAGAAATAA	0.279																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(922-924)Cta>Tta		KIAA0391							30.0	33.0	32.0					14																	35593373		2170	4274	6444	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35593373C>T	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.922C>T	14.37:g.35593373C>T						KIAA0391_ENST00000250377.7_Silent_p.L213L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000604948.1_Silent_p.L213L|KIAA0391_ENST00000321130.10_Silent_p.L308L|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.L308L	p.L308L			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	1303	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		308					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.922C>T	CCDS32063.1																																																																																				0.279	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		46	184	0	0	0	1	0	46	184				
PLAC1	10761	broad.mit.edu	37	X	133700087	133700087	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:133700087A>C	ENST00000359237.4	-	3	911	c.626T>G	c.(625-627)aTt>aGt	p.I209S	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CATGGACCCAATCATATCATC	0.448																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(625-627)aTt>aGt		placenta-specific 1							87.0	83.0	84.0					X																	133700087		2203	4300	6503	SO:0001583	missense	10761				placenta development	extracellular region		g.chrX:133700087A>C	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.626T>G	X.37:g.133700087A>C	ENSP00000352173:p.Ile209Ser					PLAC1_ENST00000476971.1_5'UTR	p.I209S	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN			3	911	-	Acute lymphoblastic leukemia(192;0.000127)		209						Missense_Mutation	SNP	ENST00000359237.4	37	c.626T>G	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482255	0.26598	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.4	-1.11	0.09840	.	.	.	.	.	T	0.25457	0.0619	N	0.24115	0.695	0.09310	N	1	B	0.24368	0.102	B	0.19391	0.025	T	0.21724	-1.0237	8	0.87932	D	0	-2.3614	6.1346	0.20225	0.3498:0.5428:0.1074:0.0	.	209	Q9HBJ0	PLAC1_HUMAN	S	209	.	ENSP00000352173:I209S	I	-	2	0	PLAC1	133527753	0.012000	0.17670	0.000000	0.03702	0.133000	0.20885	0.768000	0.26590	-0.286000	0.09076	0.486000	0.48141	ATT		0.448	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		10	371	0	0	0	1	0	10	371				
TAF6L	10629	broad.mit.edu	37	11	62549768	62549768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549768C>T	ENST00000294168.3	+	8	991	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	264					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGGACTCTGCGGGATGGGGC	0.617																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(790-792)Cgg>Tgg		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							66.0	70.0	68.0					11																	62549768		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62549768C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.790C>T	11.37:g.62549768C>T	ENSP00000294168:p.Arg264Trp					TMEM223_ENST00000527073.1_Intron	p.R264W	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			8	991	+			264					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.790C>T	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945740	0.73672	.	.	ENSG00000162227	ENST00000294168	T	0.72505	-0.66	5.4	2.4	0.29515	Domain of unknown function DUF1546 (1);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85562	0.1228	10	0.87932	D	0	-13.2784	12.6043	0.56514	0.4334:0.5666:0.0:0.0	.	264	Q9Y6J9	TAF6L_HUMAN	W	264	ENSP00000294168:R264W	ENSP00000294168:R264W	R	+	1	2	TAF6L	62306344	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	1.261000	0.32980	0.352000	0.24053	0.561000	0.74099	CGG		0.617	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		113	483	0	0	0	1	0	113	483				
DENND1A	57706	broad.mit.edu	37	9	126202642	126202642	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126202642T>C	ENST00000373624.2	-	19	1686	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.G237G|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000394215.2_Silent_p.G465G|DENND1A_ENST00000394219.3_Silent_p.G463G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	495					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TACACACCTGTCCAAAGTGGA	0.517																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1483-1485)ggA>ggG		DENN/MADD domain containing 1A							54.0	46.0	49.0					9																	126202642		2203	4300	6503	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126202642T>C	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1485A>G	9.37:g.126202642T>C						DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G463G|DENND1A_ENST00000394215.2_Silent_p.G465G|DENND1A_ENST00000542603.1_Silent_p.G237G	p.G495G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			19	1686	-			495					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.1485A>G	CCDS35133.1																																																																																				0.517	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		37	190	0	0	0	1	0	37	190				
PLA2G2D	26279	broad.mit.edu	37	1	20442831	20442831	+	Silent	SNP	C	C	T	rs150798636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20442831C>T	ENST00000375105.3	-	2	238	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	60					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACCAGTCCGTGGCATCTT	0.522										Multiple Myeloma(11;0.12)			C|||	17	0.00339457	0.0008	0.0	5008	,	,		19117	0.0		0.0119	False		,,,				2504	0.0041				Melanoma(60;742 1548 31762 39240)	ENST00000375105.3																			0				endometrium(1)|lung(2)	3						c.(178-180)acG>acA		phospholipase A2, group IID		C		10,4396	15.5+/-35.6	0,10,2193	150.0	131.0	138.0		180	-10.7	0.1	1	dbSNP_134	138	89,8511	50.6+/-110.7	0,89,4211	no	coding-synonymous	PLA2G2D	NM_012400.2		0,99,6404	TT,TC,CC		1.0349,0.227,0.7612		60/146	20442831	99,12907	2203	4300	6503	SO:0001819	synonymous_variant	26279				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20442831C>T	AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.180G>A	1.37:g.20442831C>T		Multiple Myeloma(11;0.12)					p.T60T	NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	238	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	60					A8K2Z1|B1AEL9|Q9UK01	Silent	SNP	ENST00000375105.3	37	c.180G>A	CCDS203.1																																																																																				0.522	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1			32	270	0	0	0	1	0	32	270				
STX4	6810	broad.mit.edu	37	16	31050965	31050965	+	Missense_Mutation	SNP	C	C	T	rs376316073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31050965C>T	ENST00000313843.3	+	9	1121	c.806C>T	c.(805-807)gCg>gTg	p.A269V	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.A267V	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	269	Interaction with CENPF. {ECO:0000250}.			A -> V (in Ref. 1; AAA20967). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGAAGAAGGCGAGGAAGGTG	0.587																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(799-801)gCg>gTg		syntaxin 4		C	VAL/ALA	0,4394		0,0,2197	149.0	128.0	135.0		806	6.1	1.0	16		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	STX4	NM_004604.3	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	269/298	31050965	1,12993	2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31050965C>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.806C>T	16.37:g.31050965C>T	ENSP00000317714:p.Ala269Val					STX4_ENST00000313843.3_Missense_Mutation_p.A269V|STX4_ENST00000493902.1_3'UTR	p.A267V	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			10	1143	+			269			Interaction with CENPF (By similarity).		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.800C>T	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546054	0.86022	0.0	1.16E-4	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.39406	1.08;1.26	6.08	6.08	0.98989	.	0.102174	0.64402	D	0.000002	T	0.51109	0.1655	M	0.81682	2.555	0.46096	D	0.99886	D;D	0.64830	0.993;0.994	B;B	0.42030	0.373;0.198	T	0.60424	-0.7266	10	0.62326	D	0.03	-11.455	19.4349	0.94788	0.0:1.0:0.0:0.0	.	269;267	Q12846;A8MXY0	STX4_HUMAN;.	V	267;269	ENSP00000378447:A267V;ENSP00000317714:A269V	ENSP00000317714:A269V	A	+	2	0	STX4	30958466	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.379000	0.66196	2.894000	0.99253	0.655000	0.94253	GCG		0.587	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		130	537	0	0	0	1	0	130	537				
THAP7	80764	broad.mit.edu	37	22	21354375	21354375	+	Missense_Mutation	SNP	G	G	A	rs375087817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21354375G>A	ENST00000215742.4	-	4	898	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R242W|THAP7-AS1_ENST00000452284.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	242					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGGCTCGCCGCTTCCAGAGT	0.657																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(724-726)Cgg>Tgg		THAP domain containing 7		G	TRP/ARG,TRP/ARG	2,4390		0,2,2194	15.0	16.0	16.0		724,724	-3.5	1.0	22		16	0,8546		0,0,4273	no	missense,missense	THAP7	NM_001008695.1,NM_030573.2	101,101	0,2,6467	AA,AG,GG		0.0,0.0455,0.0155	probably-damaging,probably-damaging	242/310,242/310	21354375	2,12936	2196	4273	6469	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354375G>A	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.724C>T	22.37:g.21354375G>A	ENSP00000215742:p.Arg242Trp					THAP7_ENST00000399133.2_Missense_Mutation_p.R242W	p.R242W	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	898	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	242					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.724C>T	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679638	0.68042	4.55E-4	0.0	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.97665	-4.48;-4.48	4.25	-3.45	0.04781	.	0.370399	0.21680	N	0.070723	D	0.94551	0.8245	N	0.14661	0.345	0.42120	D	0.991422	D	0.89917	1.0	D	0.65874	0.939	D	0.90812	0.4702	10	0.87932	D	0	-18.4205	8.6921	0.34273	0.0888:0.0:0.2028:0.7084	.	242	Q9BT49	THAP7_HUMAN	W	242	ENSP00000215742:R242W;ENSP00000382084:R242W	ENSP00000215742:R242W	R	-	1	2	THAP7	19684375	0.948000	0.32251	0.993000	0.49108	0.890000	0.51754	0.147000	0.16202	-0.229000	0.09854	-0.181000	0.13052	CGG		0.657	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		35	133	0	0	0	1	0	35	133				
DNMBP	23268	broad.mit.edu	37	10	101646207	101646207	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101646207G>T	ENST00000324109.4	-	13	3559	c.3468C>A	c.(3466-3468)aaC>aaA	p.N1156K	DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000342239.3_Missense_Mutation_p.N1180K|DNMBP_ENST00000472036.1_5'UTR	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1156	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGGCCTCATAGTTGTTCCGGG	0.552																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3538-3540)aaC>aaA		dynamin binding protein							123.0	121.0	122.0					10																	101646207		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101646207G>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3468C>A	10.37:g.101646207G>T	ENSP00000315659:p.Asn1156Lys					DNMBP_ENST00000324109.4_Missense_Mutation_p.N1156K|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K|DNMBP_ENST00000472036.1_5'UTR	p.N1180K			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	13	3631	-		Colorectal(252;0.234)	1156			BAR.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.3540C>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620443	0.66787	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.82	3.96	0.45880	BAR (3);	0.000000	0.52532	D	0.000062	T	0.68256	0.2981	L	0.59436	1.845	0.54753	D	0.999989	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.963;0.994	T	0.62685	-0.6802	10	0.13108	T	0.6	-33.0653	13.1438	0.59450	0.1969:0.0:0.8031:0.0	.	1156;402;1180	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	K	1180;1156;402;402;92	ENSP00000344914:N1180K;ENSP00000315659:N1156K;ENSP00000443657:N402K;ENSP00000443573:N92K	ENSP00000315659:N1156K	N	-	3	2	DNMBP	101636197	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.481000	0.53179	0.393000	0.25203	-1.134000	0.01955	AAC		0.552	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		121	531	1	0	7.99423e-63	1	1.00802e-62	121	531				
ZNF793	390927	broad.mit.edu	37	19	38028164	38028164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028164G>T	ENST00000587143.1	+	6	839	c.604G>T	c.(604-606)Gca>Tca	p.A202S	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S|ZNF793_ENST00000445217.1_Missense_Mutation_p.A202S			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAACCCGGCACTTATGTA	0.468																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(604-606)Gca>Tca		zinc finger protein 793							34.0	35.0	35.0					19																	38028164		1879	4110	5989	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028164G>T	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.604G>T	19.37:g.38028164G>T	ENSP00000468605:p.Ala202Ser					ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.A202S|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S	p.A202S			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	639	+			202					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.604G>T	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785053	0.00628	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.14266	2.52;2.52	4.02	1.7	0.24286	.	0.400235	0.18388	N	0.142751	T	0.04318	0.0119	N	0.04768	-0.165	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.42515	-0.9447	10	0.02654	T	1	.	4.9178	0.13854	0.1195:0.2196:0.6609:0.0	.	202	E9PGN4	.	S	202;202;202;201	ENSP00000444355:A202S;ENSP00000396402:A202S	ENSP00000318811:A201S	A	+	1	0	ZNF793	42720004	0.000000	0.05858	0.078000	0.20375	0.254000	0.26022	-1.219000	0.02973	1.028000	0.39785	0.643000	0.83706	GCA		0.468	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		29	104	1	0	4.3181e-19	1	4.80867e-19	29	104				
KRIT1	889	broad.mit.edu	37	7	91863867	91863867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91863867G>A	ENST00000340022.2	-	10	1903	c.885C>T	c.(883-885)agC>agT	p.S295S	KRIT1_ENST00000394505.2_Silent_p.S295S|KRIT1_ENST00000412043.2_Silent_p.S295S|KRIT1_ENST00000394507.1_Silent_p.S295S|KRIT1_ENST00000394503.2_Intron	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	295					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCACAGGCGCTTCGGTGGA	0.383																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(883-885)agC>agT		KRIT1, ankyrin repeat containing							70.0	73.0	72.0					7																	91863867		2203	4300	6503	SO:0001819	synonymous_variant	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91863867G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.885C>T	7.37:g.91863867G>A						KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394505.2_Silent_p.S295S|KRIT1_ENST00000340022.2_Silent_p.S295S|KRIT1_ENST00000412043.2_Silent_p.S295S	p.S295S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	1668	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		295					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.885C>T	CCDS5624.1																																																																																				0.383	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			69	274	0	0	0	1	0	69	274				
MUC5B	727897	broad.mit.edu	37	11	1255465	1255465	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255465G>T	ENST00000529681.1	+	20	2466	c.2408G>T	c.(2407-2409)tGc>tTc	p.C803F	MUC5B_ENST00000447027.1_Missense_Mutation_p.C806F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	803					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACCTGGACTGCAGCAACAGC	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2416-2418)tGc>tTc		mucin 5B, oligomeric mucus/gel-forming							16.0	18.0	17.0					11																	1255465		1972	4137	6109	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1255465G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2408G>T	11.37:g.1255465G>T	ENSP00000436812:p.Cys803Phe					MUC5B_ENST00000529681.1_Missense_Mutation_p.C803F	p.C806F			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	20	2475	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	803			TIL 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.2417G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	11.87	1.768045	0.31320	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.98264	-4.83;-4.83	4.21	4.21	0.49690	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	D	0.99351	0.9772	H	0.97540	4.025	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.98376	1.0556	9	0.87932	D	0	.	16.7386	0.85454	0.0:0.0:1.0:0.0	.	803;1462;806	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	F	803;806;804;839	ENSP00000436812:C803F;ENSP00000415793:C806F	ENSP00000343037:C804F	C	+	2	0	MUC5B	1212041	1.000000	0.71417	0.927000	0.36925	0.356000	0.29392	6.844000	0.75390	2.180000	0.69256	0.457000	0.33378	TGC		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		13	54	1	0	3.35478e-16	1	3.68056e-16	13	54				
KCNA4	3739	broad.mit.edu	37	11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ATACTCATTGCGCAAAGGGTC	0.478																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(646-648)cGc>cAc		potassium voltage-gated channel, shaker-related subfamily, member 4							70.0	65.0	67.0					11																	30033579		1862	4106	5968	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033579C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.647G>A	11.37:g.30033579C>T	ENSP00000328511:p.Arg216His						p.R216H	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1880	-			216						Missense_Mutation	SNP	ENST00000328224.6	37	c.647G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410513	0.83340	.	.	ENSG00000182255	ENST00000328224	T	0.77358	-1.09	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.84156	2.68	0.80722	D	1	D	0.69078	0.997	P	0.49332	0.607	D	0.87784	0.2614	10	0.72032	D	0.01	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	216	P22459	KCNA4_HUMAN	H	216	ENSP00000328511:R216H	ENSP00000328511:R216H	R	-	2	0	KCNA4	29990155	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	CGC		0.478	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		71	282	0	0	0	1	0	71	282				
DDHD2	23259	broad.mit.edu	37	8	38103326	38103326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38103326G>A	ENST00000397166.2	+	8	1440	c.915G>A	c.(913-915)ctG>ctA	p.L305L	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Silent_p.L305L|DDHD2_ENST00000517385.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	305					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACACAATTCTGGATGTCTTCT	0.423																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(913-915)ctG>ctA		DDHD domain containing 2							141.0	142.0	142.0					8																	38103326		2203	4300	6503	SO:0001819	synonymous_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38103326G>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.915G>A	8.37:g.38103326G>A						DDHD2_ENST00000520272.2_Silent_p.L305L|DDHD2_ENST00000528888.1_3'UTR	p.L305L	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		8	1440	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	305					B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	c.915G>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	8.271	0.813372	0.16537	.	.	ENSG00000085788	ENST00000532106	.	.	.	5.55	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0366	13.9591	0.64168	0.0733:0.0:0.9267:0.0	.	.	.	.	X	98	.	.	W	+	2	0	DDHD2	38222483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	1.482000	0.48325	0.585000	0.79938	TGG		0.423	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		128	602	0	0	0	1	0	128	602				
C4orf27	54969	broad.mit.edu	37	4	170671837	170671837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170671837G>A	ENST00000393381.2	-	3	323	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	83						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GATATCATAAGGACCAACTAA	0.348																																						ENST00000393381.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12						c.(247-249)cCt>cTt		chromosome 4 open reading frame 27							114.0	122.0	119.0					4																	170671837		2203	4300	6503	SO:0001583	missense	54969					nucleus		g.chr4:170671837G>A	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.248C>T	4.37:g.170671837G>A	ENSP00000406598:p.Pro83Leu						p.P83L	NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	323	-		Prostate(90;0.00601)|Renal(120;0.0183)	83						Missense_Mutation	SNP	ENST00000393381.2	37	c.248C>T	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856558	0.71834	.	.	ENSG00000056050	ENST00000393381	T	0.73789	-0.78	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91841	0.5483	10	0.87932	D	0	0.6098	18.4262	0.90610	0.0:0.0:1.0:0.0	.	83	Q9NWY4	CD027_HUMAN	L	83	ENSP00000406598:P83L	ENSP00000406598:P83L	P	-	2	0	C4orf27	170908412	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.263000	0.78421	2.363000	0.80096	0.398000	0.26397	CCT		0.348	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		98	595	0	0	0	1	0	98	595				
PDE4DIP	9659	broad.mit.edu	37	1	144855838	144855838	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144855838C>G	ENST00000369354.3	-	41	6904	c.6715G>C	c.(6715-6717)Gcc>Ccc	p.A2239P	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2375P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2239					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGCAGGGCACTGGTGCTG	0.582			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7123-7125)Gcc>Ccc		phosphodiesterase 4D interacting protein							55.0	51.0	52.0					1																	144855838		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144855838C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6715G>C	1.37:g.144855838C>G	ENSP00000358360:p.Ala2239Pro					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2239P	p.A2375P			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	44	7161	-			2239					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7123G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.843624	0.91197	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01787	4.64;4.75;4.74;4.74;4.75	4.42	3.22	0.36961	.	.	.	.	.	T	0.01940	0.0061	M	0.67953	2.075	0.32038	N	0.598654	P;D	0.55800	0.95;0.973	P;P	0.52424	0.698;0.674	T	0.43015	-0.9417	9	0.62326	D	0.03	.	4.5549	0.12131	0.0:0.7086:0.0:0.2914	.	2133;2239	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	P	2133;2239;2239;2324;2375	ENSP00000327209:A2133P;ENSP00000358360:A2239P;ENSP00000358363:A2239P;ENSP00000435654:A2324P;ENSP00000358366:A2375P	ENSP00000327209:A2133P	A	-	1	0	PDE4DIP	143567195	0.994000	0.37717	0.894000	0.35097	0.641000	0.38312	2.755000	0.47540	2.191000	0.70037	0.549000	0.68633	GCC		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		51	272	0	0	0	1	0	51	272				
FLVCR2	55640	broad.mit.edu	37	14	76108229	76108229	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76108229A>G	ENST00000238667.4	+	9	1853	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.E214E	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	499					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAACAAAGAAACTCTTGAGA	0.453																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1495-1497)gaA>gaG		feline leukemia virus subgroup C cellular receptor family, member 2							129.0	123.0	125.0					14																	76108229		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76108229A>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1497A>G	14.37:g.76108229A>G						FLVCR2_ENST00000555027.1_Silent_p.E214E|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000556856.1_Intron	p.E499E	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	9	1853	+			499					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1497A>G	CCDS9844.1																																																																																				0.453	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		86	379	0	0	0	1	0	86	379				
SLC27A1	376497	broad.mit.edu	37	19	17615330	17615330	+	Missense_Mutation	SNP	G	G	A	rs200011104		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17615330G>A	ENST00000252595.7	+	12	1947	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	617					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCTCAGACCGGCTCTTCTTC	0.597																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1849-1851)cGg>cAg		solute carrier family 27 (fatty acid transporter), member 1							89.0	75.0	80.0					19																	17615330		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17615330G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1850G>A	19.37:g.17615330G>A	ENSP00000252595:p.Arg617Gln					SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q	p.R617Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			12	1947	+			617					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1850G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	3.084	-0.188459	0.06299	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.46819	0.86;0.86	4.13	1.87	0.25490	.	0.145401	0.47852	N	0.000208	T	0.30103	0.0754	L	0.28115	0.83	0.24052	N	0.99605	B;B	0.22080	0.013;0.064	B;B	0.11329	0.004;0.006	T	0.13953	-1.0490	10	0.33141	T	0.24	-18.0686	8.3662	0.32389	0.0931:0.2886:0.6184:0.0	.	438;617	B7Z662;Q6PCB7	.;S27A1_HUMAN	Q	617	ENSP00000413424:R617Q;ENSP00000252595:R617Q	ENSP00000252595:R617Q	R	+	2	0	SLC27A1	17476330	0.423000	0.25482	0.921000	0.36526	0.308000	0.27856	1.473000	0.35387	-0.076000	0.12775	-1.134000	0.01955	CGG		0.597	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		78	355	0	0	0	1	0	78	355				
PLEKHH3	79990	broad.mit.edu	37	17	40823517	40823517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40823517G>A	ENST00000591022.1	-	8	1523	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A379V|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	379	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCGGCCCAGCGCTTTCCGGAT	0.647																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(1135-1137)gCg>gTg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							22.0	22.0	22.0					17																	40823517		2202	4300	6502	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40823517G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1136C>T	17.37:g.40823517G>A	ENSP00000468678:p.Ala379Val					PLEKHH3_ENST00000591022.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000456950.2_5'UTR	p.A379V			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	8	1566	-		Breast(137;0.00116)	379			MyTH4.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.1136C>T	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.826876	0.96996	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.92149	-2.98;-2.98	4.7	4.7	0.59300	MyTH4 domain (2);	0.000000	0.42964	D	0.000634	D	0.95598	0.8569	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96001	0.8993	10	0.62326	D	0.03	-21.402	17.2756	0.87114	0.0:0.0:1.0:0.0	.	379;379	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	V	41;379;379	ENSP00000293349:A379V;ENSP00000411885:A379V	ENSP00000293349:A379V	A	-	2	0	PLEKHH3	38077043	1.000000	0.71417	0.859000	0.33776	0.972000	0.66771	9.813000	0.99286	2.166000	0.68216	0.561000	0.74099	GCG		0.647	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		7	158	0	0	0	1	0	7	158				
MDP1	145553	broad.mit.edu	37	14	24683242	24683242	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683242T>C	ENST00000288087.7	-	6	630	c.519A>G	c.(517-519)ccA>ccG	p.P173P	CHMP4A_ENST00000609024.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_3'UTR	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	173						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						AGGCCTCAAATGGGCTCTCCT	0.423																																						ENST00000288087.7																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(517-519)ccA>ccG		magnesium-dependent phosphatase 1							63.0	64.0	64.0					14																	24683242		2203	4300	6503	SO:0001819	synonymous_variant	145553							g.chr14:24683242T>C	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.519A>G	14.37:g.24683242T>C						MDP1_ENST00000396833.2_3'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR	p.P173P	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					6	630	-								Q86Y84|Q8NAD9	Silent	SNP	ENST00000288087.7	37	c.519A>G	CCDS9620.1																																																																																				0.423	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		13	332	0	0	0	1	0	13	332				
PITRM1	10531	broad.mit.edu	37	10	3206051	3206051	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3206051C>A	ENST00000224949.4	-	7	691	c.657G>T	c.(655-657)caG>caT	p.Q219H	PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H|PITRM1_ENST00000380989.2_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	219					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TCTGAAGGTGCTGGGAGAATA	0.423																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(655-657)caG>caT		pitrilysin metallopeptidase 1							124.0	119.0	121.0					10																	3206051		1924	4122	6046	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3206051C>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.657G>T	10.37:g.3206051C>A	ENSP00000224949:p.Gln219His					PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H|PITRM1_ENST00000224949.4_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA	p.Q219H	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			7	695	-			187					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.657G>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.386149	0.61956	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.33438	1.41;1.41;1.41	5.7	5.7	0.88788	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.49455	1.56	0.80722	D	1	B;B;B;B;B;B	0.28880	0.092;0.102;0.18;0.113;0.113;0.226	B;B;B;B;B;B	0.32211	0.017;0.043;0.142;0.067;0.067;0.106	T	0.06006	-1.0851	10	0.19590	T	0.45	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	212;187;219;219;219;212	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	H	219;212;219;187	ENSP00000224949:Q219H;ENSP00000370377:Q219H;ENSP00000401201:Q187H	ENSP00000224949:Q219H	Q	-	3	2	PITRM1	3196051	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	2.273000	0.43381	2.698000	0.92095	0.655000	0.94253	CAG		0.423	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			44	174	1	0	6.2361e-21	1	7.00342e-21	44	174				
ADAT2	134637	broad.mit.edu	37	6	143753712	143753712	+	Missense_Mutation	SNP	C	C	T	rs532452116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143753712C>T	ENST00000237283.8	-	4	403	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	ADAT2_ENST00000606514.1_Missense_Mutation_p.R83Q	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	130					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACCACCAAATCGTTCATTCTG	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20425	0.0		0.0	False		,,,				2504	0.0					ENST00000606514.1																			0				endometrium(2)|large_intestine(3)|lung(3)	8						c.(247-249)cGa>cAa		adenosine deaminase, tRNA-specific 2							149.0	135.0	140.0					6																	143753712		1921	4135	6056	SO:0001583	missense	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143753712C>T	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.389G>A	6.37:g.143753712C>T	ENSP00000237283:p.Arg130Gln					ADAT2_ENST00000237283.8_Missense_Mutation_p.R130Q	p.R83Q			Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	4	832	-			130					A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	c.248G>A	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718738	0.96839	.	.	ENSG00000189007	ENST00000367594;ENST00000237283	.	.	.	5.5	5.5	0.81552	Cytidine deaminase-like (1);	0.119263	0.56097	D	0.000022	D	0.85557	0.5724	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88504	0.3084	9	0.87932	D	0	-6.0983	19.7578	0.96301	0.0:1.0:0.0:0.0	.	130	Q7Z6V5	ADAT2_HUMAN	Q	83;130	.	ENSP00000237283:R130Q	R	-	2	0	ADAT2	143795405	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.079000	0.76829	2.746000	0.94184	0.591000	0.81541	CGA		0.393	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		66	347	0	0	0	1	0	66	347				
ROBO1	6091	broad.mit.edu	37	3	78701024	78701024	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78701024A>C	ENST00000464233.1	-	19	2783	c.2670T>G	c.(2668-2670)atT>atG	p.I890M	ROBO1_ENST00000436010.2_Missense_Mutation_p.I851M|ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	890					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCACATCTGAAATCTGCTGAG	0.498																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2551-2553)atT>atG		roundabout, axon guidance receptor, homolog 1 (Drosophila)							142.0	140.0	141.0					3																	78701024		2040	4192	6232	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78701024A>C	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2670T>G	3.37:g.78701024A>C	ENSP00000420321:p.Ile890Met					ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M|ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000464233.1_Missense_Mutation_p.I890M	p.I851M			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	17	3550	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	890			Fibronectin type-III 3.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2553T>G	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965960	0.34659	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63255	-0.0;-0.03;-0.01;0.08	5.98	-3.3	0.05003	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	L	0.56769	1.78	0.44221	D	0.997057	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.993	D;D;D;D;D	0.85130	0.994;0.974;0.997;0.95;0.963	T	0.66384	-0.5937	9	.	.	.	.	12.2667	0.54683	0.2272:0.0:0.6642:0.1086	.	854;890;854;854;851	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	M	851;854;890;854;854;894	ENSP00000406043:I851M;ENSP00000420321:I890M;ENSP00000420637:I854M;ENSP00000417992:I854M	.	I	-	3	3	ROBO1	78783714	1.000000	0.71417	0.561000	0.28357	0.019000	0.09904	0.902000	0.28459	-0.923000	0.03785	-1.054000	0.02325	ATT		0.498	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		117	504	0	0	0	1	0	117	504				
CHIT1	1118	broad.mit.edu	37	1	203186203	203186203	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203186203G>T	ENST00000367229.1	-	11	1249	c.1215C>A	c.(1213-1215)ccC>ccA	p.P405P	CHIT1_ENST00000535569.1_Silent_p.P396P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.P386P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	405					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGGTTCAGAGGGCTGACCTG	0.562											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(1213-1215)ccC>ccA		chitinase 1 (chitotriosidase)							77.0	77.0	77.0					1																	203186203		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186203G>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1215C>A	1.37:g.203186203G>T			OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2135	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.P386P|CHIT1_ENST00000535569.1_Silent_p.P396P	p.P405P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			11	1249	-			405					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.1215C>A	CCDS1436.1																																																																																				0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		12	409	1	0	0.000978159	1	0.000988919	12	409				
DYRK4	8798	broad.mit.edu	37	12	4722727	4722727	+	Silent	SNP	G	G	A	rs143171709	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4722727G>A	ENST00000540757.2	+	13	1531	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	DYRK4_ENST00000010132.5_Silent_p.T457T|DYRK4_ENST00000543431.1_Silent_p.T456T|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000545342.1_Silent_p.T94T	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	457						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.T858T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATAGCCCCACGAAGCATGTTC	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19597	0.0		0.0	False		,,,				2504	0.0					ENST00000540757.2																			1	Substitution - coding silent(1)	p.T858T(1)	urinary_tract(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1369-1371)acG>acA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4		G		4,4402	8.1+/-20.4	0,4,2199	83.0	75.0	78.0		1371	-11.8	0.0	12	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	DYRK4	NM_003845.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		457/521	4722727	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4722727G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1371G>A	12.37:g.4722727G>A						DYRK4_ENST00000543431.1_Silent_p.T456T|DYRK4_ENST00000010132.5_Silent_p.T457T|DYRK4_ENST00000545342.1_Silent_p.T94T	p.T457T	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1531	+			457					A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	c.1371G>A	CCDS8530.1																																																																																				0.473	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			22	269	0	0	0	1	0	22	269				
CLPB	81570	broad.mit.edu	37	11	72145200	72145200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72145200C>T	ENST00000294053.3	-	1	492	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	CLPB_ENST00000538039.1_Missense_Mutation_p.V107I|CLPB_ENST00000542555.1_5'Flank|CLPB_ENST00000340729.5_Missense_Mutation_p.V107I|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000437826.2_Missense_Mutation_p.G26D	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	107					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTGCTGGGGACCCCGTTCCAG	0.622											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(319-321)Gtc>Atc		ClpB caseinolytic peptidase B homolog (E. coli)							52.0	55.0	54.0					11																	72145200		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72145200C>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.319G>A	11.37:g.72145200C>T	ENSP00000294053:p.Val107Ile		OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	CLPB_ENST00000437826.2_Missense_Mutation_p.G26D|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000340729.5_Missense_Mutation_p.V107I|CLPB_ENST00000538039.1_Missense_Mutation_p.V107I	p.V107I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			1	492	-			107					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.319G>A	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.364430|2.364430	0.41902|0.41902	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000535990;ENST00000437826|ENST00000294053;ENST00000538039;ENST00000340729	T;T|T;T;T	0.36157|0.66638	1.27;2.27|1.92;1.21;-0.22	4.51|4.51	3.57|3.57	0.40892|0.40892	.|.	.|0.224693	.|0.27451	.|N	.|0.019310	T|T	0.47544|0.47544	0.1451|0.1451	N|N	0.14661|0.14661	0.345|0.345	0.25689|0.25689	N|N	0.985717|0.985717	B|B;B;B	0.17667|0.24483	0.023|0.03;0.034;0.104	B|B;B;B	0.18263|0.24394	0.021|0.037;0.053;0.024	T|T	0.44997|0.44997	-0.9291|-0.9291	9|10	0.87932|0.52906	D|T	0|0.07	-9.4933|-9.4933	9.7795|9.7795	0.40640|0.40640	0.2059:0.7941:0.0:0.0|0.2059:0.7941:0.0:0.0	.|.	26|107;107;107	E7EWN6|F8W7P6;Q9H078-2;Q9H078	.|.;.;CLPB_HUMAN	D|I	76;26|107	ENSP00000443822:G76D;ENSP00000407296:G26D|ENSP00000294053:V107I;ENSP00000441518:V107I;ENSP00000340385:V107I	ENSP00000407296:G26D|ENSP00000294053:V107I	G|V	-|-	2|1	0|0	CLPB|CLPB	71822848|71822848	0.822000|0.822000	0.29219|0.29219	0.929000|0.929000	0.37066|0.37066	0.422000|0.422000	0.31414|0.31414	1.858000|1.858000	0.39408|0.39408	1.206000|1.206000	0.43276|0.43276	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.622	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		14	586	0	0	0	1	0	14	586				
AGBL1	123624	broad.mit.edu	37	15	86822914	86822914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822914G>A	ENST00000441037.2	+	15	2077	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	AGBL1_ENST00000389298.3_Missense_Mutation_p.G392E|AGBL1_ENST00000421325.2_Missense_Mutation_p.G661E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	661					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGCATCTGGGAAGTGCTAC	0.522																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(1981-1983)gGg>gAg		ATP/GTP binding protein-like 1							179.0	177.0	178.0					15																	86822914		2080	4220	6300	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86822914G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1982G>A	15.37:g.86822914G>A	ENSP00000413001:p.Gly661Glu					AGBL1_ENST00000421325.2_Missense_Mutation_p.G661E|AGBL1_ENST00000389298.3_Missense_Mutation_p.G392E	p.G661E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			15	2077	+			661					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1982G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023810	0.35701	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10860	2.83;2.83	4.83	3.88	0.44766	.	0.411474	0.25572	N	0.029742	T	0.11239	0.0274	L	0.49778	1.585	0.38626	D	0.951253	B;B;B	0.29508	0.036;0.079;0.246	B;B;B	0.26202	0.042;0.067;0.046	T	0.08351	-1.0726	10	0.45353	T	0.12	-10.3879	11.4658	0.50239	0.0906:0.0:0.9094:0.0	.	360;392;661	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	E	690;661;392	ENSP00000397173:G661E;ENSP00000373949:G392E	ENSP00000373949:G392E	G	+	2	0	AGBL1	84623918	1.000000	0.71417	0.185000	0.23176	0.509000	0.34042	5.267000	0.65530	1.189000	0.43028	0.655000	0.94253	GGG		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		145	533	0	0	0	1	0	145	533				
RBCK1	10616	broad.mit.edu	37	20	390527	390527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:390527G>T	ENST00000356286.5	+	2	730	c.25G>T	c.(25-27)Gag>Tag	p.E9*	RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000400245.3_3'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	9	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCTTTCAGCAGAGGAAATGGC	0.577																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(25-27)Gag>Tag		RanBP-type and C3HC4-type zinc finger containing 1							119.0	131.0	127.0					20																	390527		2203	4300	6503	SO:0001587	stop_gained	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:390527G>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.25G>T	20.37:g.390527G>T	ENSP00000348632:p.Glu9*					RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000353660.3_Intron	p.E9*	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			2	730	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	9			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Nonsense_Mutation	SNP	ENST00000356286.5	37	c.25G>T	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030241|3.030241	0.54790|0.54790	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000441733|ENST00000411647;ENST00000356286;ENST00000475269;ENST00000400244;ENST00000400243	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.094910	.|0.38897	.|U	.|0.001527	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.66056	.|D	.|0.02	.|-11.2532	15.14|15.14	0.72604|0.72604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|9	.|.	.|ENSP00000348632:E9X	.|E	+|+	.|1	.|0	RBCK1|RBCK1	338527|338527	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.771000|0.771000	0.43674|0.43674	6.944000|6.944000	0.75940|0.75940	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	.|GAG		0.577	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		204	979	1	0	1.34617e-89	1	1.72753e-89	204	979				
ZNF679	168417	broad.mit.edu	37	7	63720670	63720670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63720670G>T	ENST00000421025.1	+	3	380	c.111G>T	c.(109-111)caG>caT	p.Q37H	ZNF679_ENST00000255746.4_Missense_Mutation_p.Q37H	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATCACGCTCAGCAGAATTTAT	0.383																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(109-111)caG>caT		zinc finger protein 679							50.0	45.0	47.0					7																	63720670		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720670G>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.111G>T	7.37:g.63720670G>T	ENSP00000416809:p.Gln37His					ZNF679_ENST00000255746.4_Missense_Mutation_p.Q37H	p.Q37H	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			3	380	+			37			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.111G>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	g	11.75	1.731293	0.30684	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.09445	2.98;2.98	0.195	0.195	0.15151	Krueppel-associated box (4);	.	.	.	.	T	0.39937	0.1097	H	0.97611	4.04	0.22317	N	0.999208	D	0.71674	0.998	D	0.83275	0.996	T	0.19257	-1.0311	9	0.87932	D	0	.	2.6947	0.05130	0.4409:0.0:0.5591:0.0	.	37	Q8IYX0	ZN679_HUMAN	H	37	ENSP00000416809:Q37H;ENSP00000255746:Q37H	ENSP00000255746:Q37H	Q	+	3	2	ZNF679	63358105	0.010000	0.17322	0.179000	0.23059	0.176000	0.22953	1.597000	0.36729	0.300000	0.22699	0.306000	0.20318	CAG		0.383	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		84	456	1	0	2.5963e-48	1	3.20365e-48	84	456				
ZNF664	144348	broad.mit.edu	37	12	124497096	124497096	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124497096A>T	ENST00000539644.1	+	6	2235	c.405A>T	c.(403-405)agA>agT	p.R135S	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TGCATCAGAGAGTCCACACCG	0.468																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(403-405)agA>agT		zinc finger protein 664							72.0	83.0	79.0					12																	124497096		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497096A>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.405A>T	12.37:g.124497096A>T	ENSP00000441405:p.Arg135Ser					RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S|ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S	p.R135S			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2235	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		135					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.405A>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692233	0.68271	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.25	-0.735	0.11137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39615	N	0.001310	T	0.32941	0.0846	L	0.58428	1.81	0.32323	N	0.56211	D	0.71674	0.998	D	0.65323	0.934	T	0.42189	-0.9466	10	0.87932	D	0	-30.8672	0.788	0.01052	0.358:0.1751:0.297:0.1699	.	135	Q8N3J9	ZN664_HUMAN	S	135;135;135;135;73	ENSP00000441405:R135S;ENSP00000376205:R135S;ENSP00000440645:R135S;ENSP00000337320:R135S	ENSP00000337320:R135S	R	+	3	2	ZNF664	123063049	0.010000	0.17322	0.997000	0.53966	0.997000	0.91878	-0.127000	0.10547	-0.127000	0.11661	0.533000	0.62120	AGA		0.468	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		93	687	0	0	0	1	0	93	687				
AHNAK	79026	broad.mit.edu	37	11	62284885	62284885	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62284885G>A	ENST00000378024.4	-	5	17278	c.17004C>T	c.(17002-17004)ttC>ttT	p.F5668F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5668					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACGGCCAGAGAAGGTAAATT	0.532																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17002-17004)ttC>ttT		AHNAK nucleoprotein							52.0	53.0	52.0					11																	62284885		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62284885G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17004C>T	11.37:g.62284885G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F5668F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17278	-		Melanoma(852;0.155)	5668					A1A586	Silent	SNP	ENST00000378024.4	37	c.17004C>T	CCDS31584.1																																																																																				0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		75	265	0	0	0	1	0	75	265				
FAT1	2195	broad.mit.edu	37	4	187535439	187535439	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187535439G>T	ENST00000441802.2	-	12	9344	c.9135C>A	c.(9133-9135)atC>atA	p.I3045I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3045	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTAGCAGAGATCTGCATGA	0.378										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9133-9135)atC>atA		FAT atypical cadherin 1							148.0	140.0	142.0					4																	187535439		1883	4106	5989	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187535439G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9135C>A	4.37:g.187535439G>T		HNSCC(5;0.00058)					p.I3045I	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			12	9344	-			3045			Cadherin 28.			Silent	SNP	ENST00000441802.2	37	c.9135C>A	CCDS47177.1																																																																																				0.378	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		84	317	1	0	4.41824e-40	1	5.35239e-40	84	317				
TNFSF8	944	broad.mit.edu	37	9	117666569	117666569	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666569T>C	ENST00000223795.2	-	4	460	c.347A>G	c.(346-348)aAc>aGc	p.N116S	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	116					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCATCTTTGTTCCAAGACAA	0.383																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(346-348)aAc>aGc		tumor necrosis factor (ligand) superfamily, member 8							139.0	136.0	137.0					9																	117666569		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666569T>C	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.347A>G	9.37:g.117666569T>C	ENSP00000223795:p.Asn116Ser					TNFSF8_ENST00000474301.1_5'UTR	p.N116S	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	460	-			116					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.347A>G	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632859	0.67015	.	.	ENSG00000106952	ENST00000223795	D	0.94232	-3.38	5.63	5.63	0.86233	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.078972	0.53938	D	0.000050	D	0.92763	0.7699	L	0.29908	0.895	0.33043	D	0.531677	D	0.59767	0.986	P	0.59595	0.86	D	0.93475	0.6822	10	0.31617	T	0.26	-27.2485	13.3596	0.60648	0.0:0.0:0.0:1.0	.	116	P32971	TNFL8_HUMAN	S	116	ENSP00000223795:N116S	ENSP00000223795:N116S	N	-	2	0	TNFSF8	116706390	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.524000	0.45589	2.148000	0.66965	0.533000	0.62120	AAC		0.383	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			119	475	0	0	0	1	0	119	475				
KRT12	3859	broad.mit.edu	37	17	39019556	39019556	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39019556C>T	ENST00000251643.4	-	6	1158	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	379	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GCGCAGTAATCGCCCTCGGCT	0.607																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(1135-1137)Gat>Aat		keratin 12							21.0	19.0	20.0					17																	39019556		2200	4290	6490	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019556C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1135G>A	17.37:g.39019556C>T	ENSP00000251643:p.Asp379Asn						p.D379N	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			6	1158	-		Breast(137;0.000301)	379			Coil 2.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.1135G>A	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805382	0.16467	.	.	ENSG00000187242	ENST00000251643	D	0.88509	-2.39	5.05	4.06	0.47325	Filament (1);	0.524332	0.17399	N	0.175640	T	0.70745	0.3259	N	0.02412	-0.56	0.09310	N	1	P	0.36249	0.545	B	0.24701	0.055	T	0.60203	-0.7309	10	0.21014	T	0.42	.	14.833	0.70162	0.0:0.5953:0.4047:0.0	.	379	Q99456	K1C12_HUMAN	N	379	ENSP00000251643:D379N	ENSP00000251643:D379N	D	-	1	0	KRT12	36273082	0.006000	0.16342	0.348000	0.25681	0.961000	0.63080	0.930000	0.28858	1.328000	0.45358	0.491000	0.48974	GAT		0.607	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		20	130	0	0	0	1	0	20	130				
NR1I2	8856	broad.mit.edu	37	3	119533866	119533866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119533866G>A	ENST00000337940.4	+	6	1000	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	NR1I2_ENST00000393716.2_Missense_Mutation_p.A279T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	279	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCTGAAGGGGGCCGCTTTCGA	0.612																																						ENST00000393716.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(835-837)Gcc>Acc		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						59.0	52.0	55.0					3																	119533866		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119533866G>A	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.952G>A	3.37:g.119533866G>A	ENSP00000336528:p.Ala318Thr					NR1I2_ENST00000337940.4_Missense_Mutation_p.A318T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	p.A279T	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	6	2674	+			279			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.835G>A	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437170	0.62955	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95918	-3.85;-3.85;-3.85	4.31	4.31	0.51392	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.169319	0.52532	D	0.000078	D	0.96408	0.8828	M	0.78344	2.41	0.41774	D	0.989785	P;D;P	0.65815	0.956;0.995;0.69	B;P;B	0.58077	0.384;0.832;0.394	D	0.96231	0.9168	10	0.72032	D	0.01	.	9.8161	0.40853	0.0:0.0:0.795:0.205	.	279;318;265	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	T	279;242;318	ENSP00000377319:A279T;ENSP00000420297:A242T;ENSP00000336528:A318T	ENSP00000336528:A318T	A	+	1	0	NR1I2	121016556	0.075000	0.21258	0.975000	0.42487	0.346000	0.29079	2.305000	0.43664	2.393000	0.81446	0.655000	0.94253	GCC		0.612	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			54	244	0	0	0	1	0	54	244				
UNC13C	440279	broad.mit.edu	37	15	54527296	54527296	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54527296T>C	ENST00000260323.11	+	4	3140	c.3140T>C	c.(3139-3141)gTc>gCc	p.V1047A	UNC13C_ENST00000545554.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1047					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGCCTATTGTCCGAGATGTG	0.378																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3139-3141)gTc>gCc		unc-13 homolog C (C. elegans)							138.0	129.0	132.0					15																	54527296		1853	4092	5945	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54527296T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3140T>C	15.37:g.54527296T>C	ENSP00000260323:p.Val1047Ala					UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000260323.11_Missense_Mutation_p.V1047A	p.V1047A			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	4	3140	+			1047					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3140T>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849672	0.71603	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85411	-1.97;-1.98;-1.94	5.67	5.67	0.87782	.	0.131907	0.49916	D	0.000125	D	0.92028	0.7474	M	0.80332	2.49	0.47862	D	0.999538	D	0.63880	0.993	D	0.70016	0.967	D	0.92958	0.6386	10	0.87932	D	0	.	14.1387	0.65306	0.0:0.0:0.0:1.0	.	1047	Q8NB66	UN13C_HUMAN	A	1047	ENSP00000260323:V1047A;ENSP00000438156:V1047A;ENSP00000442569:V1047A	ENSP00000260323:V1047A	V	+	2	0	UNC13C	52314588	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.601000	0.74136	2.287000	0.76781	0.482000	0.46254	GTC		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		38	160	0	0	0	1	0	38	160				
SCN5A	6331	broad.mit.edu	37	3	38595864	38595864	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38595864G>A	ENST00000333535.4	-	27	4868	c.4719C>T	c.(4717-4719)ggC>ggT	p.G1573G	SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000414099.2_Silent_p.G1555G|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000455624.2_Splice_Site			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1573					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAATACACTCGCCTGTGAAGA	0.498																																						ENST00000455624.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.e26+1		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						146.0	158.0	154.0					3																	38595864		2118	4257	6375	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38595864G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4719C>T	3.37:g.38595864G>A						SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000333535.4_Silent_p.G1573G|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000414099.2_Silent_p.G1555G				Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	4739	-	Medulloblastoma(35;0.163)							A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Splice_Site	SNP	ENST00000333535.4	37		CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028857	0.35797	.	.	ENSG00000183873	ENST00000455624	.	.	.	3.69	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0242	0.09680	0.0946:0.1736:0.5766:0.1552	.	.	.	.	.	-1	.	.	.	-	.	.	SCN5A	38570868	0.398000	0.25279	1.000000	0.80357	0.910000	0.53928	0.158000	0.16422	0.736000	0.32559	0.462000	0.41574	.		0.498	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		77	323	0	0	0	1	0	77	323				
DLG1	1739	broad.mit.edu	37	3	196921409	196921409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196921409G>A	ENST00000419354.1	-	5	656	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000346964.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	124					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTGTGATTTGTGGGGAAATA	0.363																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(370-372)Caa>Taa		discs, large homolog 1 (Drosophila)							168.0	161.0	163.0					3																	196921409		2203	4299	6502	SO:0001587	stop_gained	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196921409G>A	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.370C>T	3.37:g.196921409G>A	ENSP00000407531:p.Gln124*					DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000419354.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*	p.Q124*	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	5	559	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	124					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Nonsense_Mutation	SNP	ENST00000419354.1	37	c.370C>T	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192244	0.58017	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	.	.	.	5.17	4.2	0.49525	.	0.370524	0.28214	N	0.016163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	15.5045	0.75728	0.0:0.0:0.8523:0.1477	.	.	.	.	X	124;124;124;124;124;124;124;124;124;124;28;124;124;124	.	ENSP00000321087:Q124X	Q	-	1	0	DLG1	198405806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.372000	0.59530	2.413000	0.81919	0.655000	0.94253	CAA		0.363	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		40	232	0	0	0	1	0	40	232				
ZNF644	84146	broad.mit.edu	37	1	91405961	91405961	+	Missense_Mutation	SNP	T	T	G	rs145118167	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405961T>G	ENST00000370440.1	-	3	1167	c.950A>C	c.(949-951)aAa>aCa	p.K317T	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATTTTTGATTTATTGGGTAC	0.328																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(949-951)aAa>aCa		zinc finger protein 644							85.0	86.0	86.0					1																	91405961		2203	4299	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405961T>G	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.950A>C	1.37:g.91405961T>G	ENSP00000359469:p.Lys317Thr					ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T	p.K317T			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1167	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	317					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.950A>C	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673492	0.47781	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00609	6.24;6.24	5.58	5.58	0.84498	.	0.111999	0.64402	D	0.000005	T	0.00328	0.0010	L	0.32530	0.975	0.48696	D	0.999694	B	0.29212	0.237	B	0.22880	0.042	T	0.72151	-0.4377	10	0.48119	T	0.1	-16.216	15.756	0.78025	0.0:0.0:0.0:1.0	.	317	Q9H582	ZN644_HUMAN	T	317	ENSP00000359469:K317T;ENSP00000337008:K317T	ENSP00000337008:K317T	K	-	2	0	ZNF644	91178549	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.699000	0.68310	2.131000	0.65755	0.533000	0.62120	AAA		0.328	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		69	248	0	0	0	1	0	69	248				
TRPC5	7224	broad.mit.edu	37	X	111097131	111097131	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097131G>T	ENST00000262839.2	-	4	2022	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	368					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGGCAGATAAACTTGA	0.493																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1102-1104)atC>atA		transient receptor potential cation channel, subfamily C, member 5							123.0	108.0	113.0					X																	111097131		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097131G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1104C>A	X.37:g.111097131G>T							p.I368I	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			4	2022	-			368					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1104C>A	CCDS14561.1																																																																																				0.493	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		53	399	1	0	2.48254e-18	1	2.75398e-18	53	399				
HEATR4	399671	broad.mit.edu	37	14	73989008	73989008	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73989008C>A	ENST00000553558.1	-	3	1170	c.849G>T	c.(847-849)aaG>aaT	p.K283N	HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|RP3-414A15.11_ENST00000553394.1_RNA|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	283										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTTCTGGCTTCTTCTTTTCCT	0.532																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(847-849)aaG>aaT		HEAT repeat containing 4							120.0	118.0	119.0					14																	73989008		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73989008C>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.849G>T	14.37:g.73989008C>A	ENSP00000450444:p.Lys283Asn					HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N	p.K283N	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	1170	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.849G>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557739	0.13436	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.44083	0.93	5.69	3.88	0.44766	.	0.173502	0.41097	D	0.000948	T	0.44871	0.1314	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.58660	0.843	T	0.26360	-1.0105	10	0.62326	D	0.03	-6.6596	8.6657	0.34118	0.0:0.8262:0.0:0.1738	.	283	Q86WZ0	HEAT4_HUMAN	N	283;236	ENSP00000450444:K283N	ENSP00000335447:K236N	K	-	3	2	HEATR4	73058761	0.010000	0.17322	0.061000	0.19648	0.160000	0.22226	-0.349000	0.07731	0.777000	0.33496	0.561000	0.74099	AAG		0.532	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		128	625	1	0	9.30381e-49	1	1.14909e-48	128	625				
KDM5B	10765	broad.mit.edu	37	1	202705505	202705505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202705505G>A	ENST00000367265.3	-	21	4264	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1034					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTAACACTGGCACACGTCCT	0.413																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(3100-3102)Cca>Tca		lysine (K)-specific demethylase 5B							86.0	79.0	81.0					1																	202705505		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202705505G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3100C>T	1.37:g.202705505G>A	ENSP00000356234:p.Pro1034Ser					KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	p.P1034S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			21	4264	-			1034					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3100C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763091	0.89932	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.55052	0.54;0.54;0.54	5.66	5.66	0.87406	Lysine-specific demethylase-like domain (1);	0.099013	0.64402	D	0.000001	T	0.75436	0.3849	M	0.81497	2.545	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.70487	0.969;0.964	T	0.77225	-0.2666	10	0.72032	D	0.01	-6.9268	20.1253	0.97977	0.0:0.0:1.0:0.0	.	1070;1034	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	S	1034;876;1070;876	ENSP00000356234:P1034S;ENSP00000356233:P1070S;ENSP00000235790:P876S	ENSP00000235790:P876S	P	-	1	0	KDM5B	200972128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	2.832000	0.97577	0.655000	0.94253	CCA		0.413	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		22	297	0	0	0	1	0	22	297				
JMJD1C	221037	broad.mit.edu	37	10	64968369	64968369	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968369C>A	ENST00000399262.2	-	10	3278	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1020					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACGGTGTTCCTCTTTGTATT	0.408																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3058-3060)gaG>gaT		jumonji domain containing 1C							213.0	198.0	203.0					10																	64968369		1893	4115	6008	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968369C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3060G>T	10.37:g.64968369C>A	ENSP00000382204:p.Glu1020Asp					JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D	p.E1020D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3278	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1020					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3060G>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000484	0.54147	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.69435	-0.06;-0.4;1.38;-0.05	5.9	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.64997	1.995	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.73353	-0.4009	10	0.52906	T	0.07	-15.4301	9.7959	0.40735	0.0:0.6749:0.0:0.3251	.	561;1020;838	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	D	1020;801;801;838	ENSP00000382204:E1020D;ENSP00000384990:E801D;ENSP00000382195:E801D;ENSP00000444682:E838D	ENSP00000382195:E801D	E	-	3	2	JMJD1C	64638375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.424000	0.34848	0.228000	0.21019	0.563000	0.77884	GAG		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		156	715	1	0	6.68407e-91	1	8.58241e-91	156	715				
HYAL1	3373	broad.mit.edu	37	3	50339672	50339672	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50339672C>A	ENST00000266031.4	-	1	1331	c.716G>T	c.(715-717)aGc>aTc	p.S239I	HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	239					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGGGCACGGCTCTGGCCCCA	0.587																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(715-717)aGc>aTc		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						53.0	48.0	50.0					3																	50339672		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50339672C>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.716G>T	3.37:g.50339672C>A	ENSP00000266031:p.Ser239Ile					HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I|HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I|HYAL1_ENST00000447605.2_Intron	p.S239I			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	1331	-			239					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.716G>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464857	0.63513	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.079607	0.85682	D	0.000000	T	0.67325	0.2881	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76680	-0.2870	10	0.87932	D	0	-32.4736	17.8882	0.88863	0.0:1.0:0.0:0.0	.	239;239;239	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	I	239;239;239;239;57	ENSP00000378576:S239I;ENSP00000266031:S239I;ENSP00000346068:S239I;ENSP00000378575:S239I;ENSP00000393358:S57I	ENSP00000266031:S239I	S	-	2	0	HYAL1	50314676	1.000000	0.71417	0.894000	0.35097	0.412000	0.31113	3.976000	0.56867	2.585000	0.87301	0.655000	0.94253	AGC		0.587	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			20	237	1	0	1.64113e-05	1	1.68037e-05	20	237				
CASP2	835	broad.mit.edu	37	7	142991359	142991359	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142991359C>A	ENST00000310447.5	+	5	753	c.512C>A	c.(511-513)cCt>cAt	p.P171H	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	171					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAAGATGGTCCTGTCTGCCTT	0.383																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(511-513)cCt>cAt		caspase 2, apoptosis-related cysteine peptidase							162.0	163.0	163.0					7																	142991359		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142991359C>A	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.512C>A	7.37:g.142991359C>A	ENSP00000312664:p.Pro171His					CASP2_ENST00000493642.1_3'UTR	p.P171H	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			5	753	+	Melanoma(164;0.059)		171					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.512C>A	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583897	0.86748	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.02103	4.45	5.78	5.78	0.91487	.	0.250574	0.43747	D	0.000528	T	0.09247	0.0228	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.55965	0.788	T	0.01090	-1.1455	10	0.48119	T	0.1	.	18.246	0.89986	0.0:1.0:0.0:0.0	.	171	P42575	CASP2_HUMAN	H	171;140	ENSP00000312664:P171H	ENSP00000312664:P171H	P	+	2	0	CASP2	142701481	0.999000	0.42202	0.993000	0.49108	0.923000	0.55619	6.030000	0.70903	2.752000	0.94435	0.555000	0.69702	CCT		0.383	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		91	439	1	0	1.04553e-52	1	1.30113e-52	91	439				
IL33	90865	broad.mit.edu	37	9	6241745	6241745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6241745G>A	ENST00000381434.3	+	1	64	c.51G>A	c.(49-51)tgG>tgA	p.W17*	IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*|IL33_ENST00000463336.1_3'UTR|IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	17	Homeodomain-like HTH domain.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CAGCAAAGTGGAAGAACACAG	0.313																																						ENST00000381434.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(49-51)tgG>tgA		interleukin 33							90.0	88.0	88.0					9																	6241745		2203	4300	6503	SO:0001587	stop_gained	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6241745G>A	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.51G>A	9.37:g.6241745G>A	ENSP00000370842:p.Trp17*					IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*|IL33_ENST00000463336.1_3'UTR|IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*	p.W17*	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	1	64	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	17					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Nonsense_Mutation	SNP	ENST00000381434.3	37	c.51G>A	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678039	0.47886	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	.	.	.	4.26	1.3	0.21679	.	2.375840	0.01455	N	0.015626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	0.6912	4.6084	0.12389	0.2064:0.1902:0.6034:0.0	.	.	.	.	X	17	.	ENSP00000370842:W17X	W	+	3	0	IL33	6231745	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.121000	0.10643	0.299000	0.22661	0.485000	0.47835	TGG		0.313	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		24	124	0	0	0	1	0	24	124				
NELFCD	51497	broad.mit.edu	37	20	57567047	57567047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57567047G>T	ENST00000344018.3	+	10	1255	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000602795.1_Nonsense_Mutation_p.E419*			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	410					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											ACTAGTGGCAGAATTGAGCAC	0.413																																						ENST00000602795.1																			0											c.(1255-1257)Gaa>Taa		negative elongation factor complex member C/D							148.0	140.0	143.0					20																	57567047		2203	4300	6503	SO:0001587	stop_gained	51497							g.chr20:57567047G>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1228G>T	20.37:g.57567047G>T	ENSP00000342300:p.Glu410*					NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Nonsense_Mutation_p.E410*	p.E419*							10	1303	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Nonsense_Mutation	SNP	ENST00000344018.3	37	c.1255G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.531514	0.97641	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-37.6074	19.4217	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	410	.	ENSP00000342300:E410X	E	+	1	0	TH1L	57000442	1.000000	0.71417	0.290000	0.24890	0.971000	0.66376	9.701000	0.98710	2.605000	0.88082	0.655000	0.94253	GAA		0.413	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		60	325	1	0	2.91325e-39	1	3.52141e-39	60	325				
NKD2	85409	broad.mit.edu	37	5	1034966	1034966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1034966C>T	ENST00000296849.5	+	7	751	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000274150.4_Silent_p.T174T|NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000382730.2_5'Flank	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)	p.T174T(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617																																						ENST00000296849.5																			1	Substitution - coding silent(1)	p.T174T(1)	breast(1)	breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(520-522)acC>acT		naked cuticle homolog 2 (Drosophila)							65.0	50.0	55.0					5																	1034966		2200	4294	6494	SO:0001819	synonymous_variant	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1034966C>T	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.522C>T	5.37:g.1034966C>T						NKD2_ENST00000274150.4_Silent_p.T174T|NKD2_ENST00000537972.1_Silent_p.T174T	p.T174T	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		7	751	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		174			Interaction with DVL1, DVL2 and DVL3 (By similarity).		Q96EK8|Q9BSN0	Silent	SNP	ENST00000296849.5	37	c.522C>T	CCDS3859.1																																																																																				0.617	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		24	121	0	0	0	1	0	24	121				
IL1RAPL2	26280	broad.mit.edu	37	X	104999178	104999178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104999178G>T	ENST00000372582.1	+	10	1956	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	400	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGACAACAAGGAATATGATG	0.383																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1198-1200)aaG>aaT		interleukin 1 receptor accessory protein-like 2							99.0	90.0	93.0					X																	104999178		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104999178G>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1200G>T	X.37:g.104999178G>T	ENSP00000361663:p.Lys400Asn					IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.K5N|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N	p.K400N	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			10	1956	+			400			TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1200G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954421	0.53293	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02787	4.16;4.16;4.16	5.62	2.57	0.30868	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.64402	D	0.000004	T	0.16599	0.0399	M	0.91972	3.26	0.53005	D	0.999968	D	0.76494	0.999	D	0.80764	0.994	T	0.00087	-1.2092	10	0.87932	D	0	.	8.5678	0.33550	0.4625:0.0:0.5375:0.0	.	400	Q9NP60	IRPL2_HUMAN	N	400;400;5	ENSP00000361663:K400N;ENSP00000344976:K400N;ENSP00000445576:K5N	ENSP00000344976:K400N	K	+	3	2	IL1RAPL2	104885834	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	0.455000	0.21843	0.067000	0.16545	0.600000	0.82982	AAG		0.383	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		80	269	1	0	7.31121e-38	1	8.79105e-38	80	269				
PRPF38B	55119	broad.mit.edu	37	1	109241961	109241961	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241961T>C	ENST00000370025.4	+	6	1229	c.960T>C	c.(958-960)agT>agC	p.S320S	PRPF38B_ENST00000370021.1_Silent_p.S209S	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	320	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GATCCCGAAGTATTGACCGGG	0.502																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(625-627)agT>agC		pre-mRNA processing factor 38B							88.0	88.0	88.0					1																	109241961		2203	4300	6503	SO:0001819	synonymous_variant	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241961T>C	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.960T>C	1.37:g.109241961T>C						PRPF38B_ENST00000370025.4_Silent_p.S320S	p.S209S			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1264	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	320					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	ENST00000370025.4	37	c.627T>C	CCDS788.1																																																																																				0.502	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		53	400	0	0	0	1	0	53	400				
ADH7	131	broad.mit.edu	37	4	100349696	100349696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349696G>A	ENST00000209665.4	-	3	488	c.248C>T	c.(247-249)aCt>aTt	p.T83I	ADH7_ENST00000476959.1_Missense_Mutation_p.T91I|ADH7_ENST00000482593.1_Missense_Mutation_p.T14I|ADH7_ENST00000437033.2_Missense_Mutation_p.T71I	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	83				T -> R (in Ref. 11; AA sequence). {ECO:0000305}.	ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TACAATCCCAGTTGCCTCATG	0.433																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(211-213)aCt>aTt		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						266.0	218.0	234.0					4																	100349696		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349696G>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.248C>T	4.37:g.100349696G>A	ENSP00000209665:p.Thr83Ile					ADH7_ENST00000209665.4_Missense_Mutation_p.T83I|ADH7_ENST00000476959.1_Missense_Mutation_p.T91I|ADH7_ENST00000482593.1_Missense_Mutation_p.T14I	p.T71I			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	3	715	-			83					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.212C>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831190	0.32329	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	4.24	-0.966	0.10320	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.322190	0.32868	N	0.005555	T	0.02119	0.0066	N	0.05199	-0.095	0.20638	N	0.999873	B	0.15719	0.014	B	0.19666	0.026	T	0.39761	-0.9598	10	0.87932	D	0	-30.7314	3.5526	0.07853	0.3167:0.0:0.411:0.2723	.	83	P40394	ADH7_HUMAN	I	71;83;14;91;14	ENSP00000414254:T71I;ENSP00000209665:T83I;ENSP00000420613:T14I;ENSP00000420269:T91I;ENSP00000420300:T14I	ENSP00000209665:T83I	T	-	2	0	ADH7	100568719	0.029000	0.19370	0.000000	0.03702	0.901000	0.52897	0.978000	0.29488	-0.173000	0.10761	0.655000	0.94253	ACT		0.433	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		16	867	0	0	0	1	0	16	867				
CEP68	23177	broad.mit.edu	37	2	65298745	65298745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65298745G>A	ENST00000377990.2	+	3	718	c.515G>A	c.(514-516)aGc>aAc	p.S172N	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|CEP68_ENST00000260569.4_Missense_Mutation_p.S172N|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	172					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAGCCTCACAGCTCAGGTCTC	0.562																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(514-516)aGc>aAc		centrosomal protein 68kDa							90.0	77.0	81.0					2																	65298745		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65298745G>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.515G>A	2.37:g.65298745G>A	ENSP00000367229:p.Ser172Asn					CEP68_ENST00000260569.4_Missense_Mutation_p.S172N|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR	p.S172N	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	718	+			172					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.515G>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467144	0.26335	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.13778	2.56;2.56;2.56	5.8	-3.97	0.04094	.	1.223130	0.05650	N	0.584966	T	0.05090	0.0136	N	0.08118	0	0.26175	N	0.979806	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.002;0.001;0.001;0.003	T	0.38286	-0.9668	10	0.23302	T	0.38	1.135	1.0509	0.01579	0.1817:0.2118:0.3139:0.2926	.	160;172;172;172;172	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	N	172;172;172;160	ENSP00000367229:S172N;ENSP00000438306:S172N;ENSP00000260569:S172N	ENSP00000260569:S172N	S	+	2	0	CEP68	65152249	0.000000	0.05858	0.037000	0.18230	0.657000	0.38888	-0.854000	0.04299	-0.389000	0.07786	0.655000	0.94253	AGC		0.562	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		95	266	0	0	0	1	0	95	266				
PEAK1	79834	broad.mit.edu	37	15	77473289	77473289	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77473289G>T	ENST00000560626.2	-	4	1455	c.980C>A	c.(979-981)tCt>tAt	p.S327Y	PEAK1_ENST00000312493.4_Missense_Mutation_p.S327Y|PEAK1_ENST00000558305.1_Missense_Mutation_p.S327Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	327	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTGTCCATAAGAGACCACAGA	0.433																																						ENST00000560626.2																			0											c.(979-981)tCt>tAt		pseudopodium-enriched atypical kinase 1							85.0	76.0	79.0					15																	77473289		1928	4138	6066	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473289G>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.980C>A	15.37:g.77473289G>T	ENSP00000452796:p.Ser327Tyr					PEAK1_ENST00000558305.1_Missense_Mutation_p.S327Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.S327Y	p.S327Y			Q9H792	PEAK1_HUMAN			4	1455	-			327			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.980C>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430700	0.43122	.	.	ENSG00000173517	ENST00000312493	T	0.70399	-0.48	5.3	5.3	0.74995	.	0.642209	0.11570	U	0.550836	T	0.60064	0.2240	N	0.24115	0.695	0.37399	D	0.912764	P	0.49961	0.93	P	0.44732	0.459	T	0.63699	-0.6578	10	0.62326	D	0.03	-6.9958	8.1524	0.31148	0.1368:0.0:0.8632:0.0	.	327	Q9H792	PEAK1_HUMAN	Y	327	ENSP00000309230:S327Y	ENSP00000309230:S327Y	S	-	2	0	AC087465.1	75260344	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	6.007000	0.70731	2.469000	0.83416	0.557000	0.71058	TCT		0.433	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			68	384	1	0	5.00936e-31	1	5.8875e-31	68	384				
HOXB8	3218	broad.mit.edu	37	17	46691781	46691781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691781G>T	ENST00000239144.4	-	1	520	c.286C>A	c.(286-288)Cta>Ata	p.L96I	HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	96					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCACCGAATAGGCTCTGGCGT	0.692																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(286-288)Cta>Ata		homeobox B8							51.0	50.0	51.0					17																	46691781		2203	4298	6501	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691781G>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.286C>A	17.37:g.46691781G>T	ENSP00000239144:p.Leu96Ile					HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I|HOXB7_ENST00000567101.1_Intron	p.L96I	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	520	-			96					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.286C>A	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	13.25	2.181819	0.38511	.	.	ENSG00000120068	ENST00000239144	T	0.42900	0.96	2.97	2.97	0.34412	.	0.000000	0.50627	U	0.000116	T	0.47284	0.1437	L	0.31664	0.95	0.44635	D	0.997615	D	0.58268	0.982	D	0.67548	0.952	T	0.30995	-0.9959	10	0.19147	T	0.46	.	14.3989	0.67029	0.0:0.0:1.0:0.0	.	96	P17481	HXB8_HUMAN	I	96	ENSP00000239144:L96I	ENSP00000239144:L96I	L	-	1	2	HOXB8	44046780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.894000	0.63206	1.685000	0.51034	0.290000	0.19541	CTA		0.692	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			67	317	1	0	2.10328e-26	1	2.42447e-26	67	317				
KRT82	3888	broad.mit.edu	37	12	52799988	52799988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52799988G>A	ENST00000257974.2	-	1	151	c.74C>T	c.(73-75)cCc>cTc	p.P25L	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	25	Head.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GACCATCCGGGGCATGACAGC	0.632																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(73-75)cCc>cTc		keratin 82							36.0	32.0	33.0					12																	52799988		2202	4298	6500	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52799988G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.74C>T	12.37:g.52799988G>A	ENSP00000257974:p.Pro25Leu						p.P25L	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	1	151	-			25			Head.			Missense_Mutation	SNP	ENST00000257974.2	37	c.74C>T	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785530	0.70337	.	.	ENSG00000161850	ENST00000257974	D	0.82526	-1.62	5.16	5.16	0.70880	.	0.000000	0.51477	D	0.000092	D	0.87265	0.6134	L	0.48986	1.54	0.58432	D	0.999992	D	0.62365	0.991	P	0.58013	0.831	D	0.87670	0.2540	10	0.54805	T	0.06	.	18.6394	0.91390	0.0:0.0:1.0:0.0	.	25	Q9NSB4	KRT82_HUMAN	L	25	ENSP00000257974:P25L	ENSP00000257974:P25L	P	-	2	0	KRT82	51086255	0.077000	0.21312	0.570000	0.28473	0.419000	0.31324	1.176000	0.31957	2.571000	0.86741	0.655000	0.94253	CCC		0.632	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		27	130	0	0	0	1	0	27	130				
BNIP3	664	broad.mit.edu	37	10	133784250	133784250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133784250C>T	ENST00000368636.4	-	5	555	c.431G>A	c.(430-432)aGc>aAc	p.S144N	BNIP3_ENST00000540159.1_Missense_Mutation_p.S144N	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	144					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCCTCATGCTGAGGGTGGC	0.537																																						ENST00000540159.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(430-432)aGc>aAc		BCL2/adenovirus E1B 19kDa interacting protein 3							77.0	71.0	73.0					10																	133784250		2203	4298	6501	SO:0001583	missense	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133784250C>T	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.431G>A	10.37:g.133784250C>T	ENSP00000357625:p.Ser144Asn					BNIP3_ENST00000368636.4_Missense_Mutation_p.S144N	p.S144N			Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	5	547	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	144					O14620|Q96GP0	Missense_Mutation	SNP	ENST00000368636.4	37	c.431G>A	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751290	0.89753	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.88640	2.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88300	0.2949	9	0.87932	D	0	-10.6238	17.9813	0.89141	0.0:1.0:0.0:0.0	.	144	Q12983	BNIP3_HUMAN	N	144	.	ENSP00000357625:S144N	S	-	2	0	BNIP3	133634240	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.744000	0.74854	2.423000	0.82170	0.655000	0.94253	AGC		0.537	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1			60	208	0	0	0	1	0	60	208				
ZNF217	7764	broad.mit.edu	37	20	52192497	52192497	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192497A>G	ENST00000371471.2	-	4	3231	c.2806T>C	c.(2806-2808)Tac>Cac	p.Y936H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	936					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTCTTCTGTAATTGGCCCCG	0.547																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2806-2808)Tac>Cac		zinc finger protein 217							117.0	96.0	103.0					20																	52192497		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192497A>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2806T>C	20.37:g.52192497A>G	ENSP00000360526:p.Tyr936His					ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H	p.Y936H			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	3231	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		936					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.2806T>C	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964716	0.34659	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.09630	2.96;2.96	5.25	2.93	0.34026	.	1.460060	0.03847	N	0.271603	T	0.13927	0.0337	L	0.48642	1.525	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.16305	-1.0407	10	0.51188	T	0.08	-9.4007	4.8027	0.13305	0.6039:0.159:0.2371:0.0	.	936	O75362	ZN217_HUMAN	H	936;936;24;96	ENSP00000360526:Y936H;ENSP00000304308:Y936H	ENSP00000304308:Y936H	Y	-	1	0	ZNF217	51625904	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	0.839000	0.27586	0.297000	0.22615	0.528000	0.53228	TAC		0.547	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		55	248	0	0	0	1	0	55	248				
OR5L2	26338	broad.mit.edu	37	11	55595572	55595572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55595572G>A	ENST00000378397.1	+	1	878	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TACAGCCTGAGAAATAAGGAT	0.473										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(877-879)aGa>aAa		olfactory receptor, family 5, subfamily L, member 2							47.0	48.0	48.0					11																	55595572		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595572G>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.878G>A	11.37:g.55595572G>A	ENSP00000367650:p.Arg293Lys	HNSCC(27;0.073)					p.R293K	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	878	+		all_epithelial(135;0.208)	293					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.878G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792977	0.50102	.	.	ENSG00000205030	ENST00000378397	T	0.39997	1.05	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000018	T	0.52677	0.1749	M	0.79343	2.45	0.31168	N	0.703581	P	0.50943	0.94	P	0.46208	0.507	T	0.65421	-0.6172	10	0.59425	D	0.04	-22.9325	17.1913	0.86880	0.0:0.0:1.0:0.0	.	293	Q8NGL0	OR5L2_HUMAN	K	293	ENSP00000367650:R293K	ENSP00000367650:R293K	R	+	2	0	OR5L2	55352148	1.000000	0.71417	0.985000	0.45067	0.146000	0.21551	5.069000	0.64370	2.471000	0.83476	0.536000	0.68110	AGA		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		52	184	0	0	0	1	0	52	184				
KTN1	3895	broad.mit.edu	37	14	56103175	56103175	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:56103175A>G	ENST00000395314.3	+	10	1538	c.1470A>G	c.(1468-1470)ctA>ctG	p.L490L	KTN1_ENST00000413890.2_Silent_p.L490L|KTN1_ENST00000395309.3_Silent_p.L490L|KTN1_ENST00000395311.1_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L|KTN1_ENST00000416613.1_Silent_p.L490L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	490					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTTCAACTACAAGAAGCTG	0.403			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1468-1470)ctA>ctG		kinectin 1 (kinesin receptor)							75.0	74.0	74.0					14																	56103175		2203	4300	6503	SO:0001819	synonymous_variant	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56103175A>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1470A>G	14.37:g.56103175A>G						KTN1_ENST00000395309.3_Silent_p.L490L|KTN1_ENST00000395311.1_Silent_p.L490L|KTN1_ENST00000395314.3_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L|KTN1_ENST00000413890.2_Silent_p.L490L	p.L490L			Q86UP2	KTN1_HUMAN			9	1542	+			490					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	c.1470A>G	CCDS41957.1																																																																																				0.403	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			11	56	0	0	0	1	0	11	56				
GTPBP10	85865	broad.mit.edu	37	7	89982181	89982181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89982181G>A	ENST00000222511.6	+	2	151	c.85G>A	c.(85-87)Gga>Aga	p.G29R	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	29					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGATCCGGTGGAATGGGTTA	0.393											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(85-87)Gga>Aga		GTP-binding protein 10 (putative)							170.0	166.0	167.0					7																	89982181		2203	4300	6503	SO:0001583	missense	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89982181G>A		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.85G>A	7.37:g.89982181G>A	ENSP00000222511:p.Gly29Arg		OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1271	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	p.G29R	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			2	151	+			29					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	c.85G>A	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592124	0.66219	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	6.07	5.19	0.71726	GTP1/OBG subdomain (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	H	0.98918	4.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.92475	0.5988	9	.	.	.	-7.0466	17.414	0.87494	0.0:0.1247:0.8753:0.0	.	29;29;20;46	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	R	20;46;29;29;29	ENSP00000405697:G20R;ENSP00000389510:G46R;ENSP00000257659:G29R;ENSP00000222511:G29R;ENSP00000416596:G29R	.	G	+	1	0	GTPBP10	89820117	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.145000	0.94634	1.565000	0.49641	-0.283000	0.09986	GGA		0.393	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		10	294	0	0	0	1	0	10	294				
UGT3A1	133688	broad.mit.edu	37	5	35965575	35965575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965575A>C	ENST00000274278.3	-	4	1113	c.756T>G	c.(754-756)gaT>gaG	p.D252E	UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	252						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGGCAAAATCAGAGTTAA	0.433																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(754-756)gaT>gaG		UDP glycosyltransferase 3 family, polypeptide A1							116.0	117.0	117.0					5																	35965575		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965575A>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.756T>G	5.37:g.35965575A>C	ENSP00000274278:p.Asp252Glu					UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218E	p.D252E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	1113	-	all_lung(31;0.000197)		252					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.756T>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617917	0.46736	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	3.05	0.95	0.19572	.	0.000000	0.64402	D	0.000001	T	0.73613	0.3609	M	0.88704	2.975	0.37020	D	0.896172	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79108	0.975;0.99;0.992;0.99	T	0.73119	-0.4083	10	0.32370	T	0.25	.	8.1298	0.31020	0.2254:0.0:0.7746:0.0	.	218;252;198;252	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	E	252;252;218;198	ENSP00000274278:D252E;ENSP00000427079:D252E;ENSP00000426100:D218E;ENSP00000328033:D198E	ENSP00000274278:D252E	D	-	3	2	UGT3A1	36001332	1.000000	0.71417	0.966000	0.40874	0.875000	0.50365	0.433000	0.21477	0.091000	0.17302	-0.736000	0.03550	GAT		0.433	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		77	388	0	0	0	1	0	77	388				
PTPRO	5800	broad.mit.edu	37	12	15654735	15654735	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654735C>T	ENST00000281171.4	+	5	1173	c.843C>T	c.(841-843)tcC>tcT	p.S281S	PTPRO_ENST00000348962.2_Silent_p.S281S|PTPRO_ENST00000543886.1_Silent_p.S281S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	281	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTTCTTCCGGTTGGCCTG	0.413																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(841-843)tcC>tcT		protein tyrosine phosphatase, receptor type, O							67.0	64.0	65.0					12																	15654735		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654735C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.843C>T	12.37:g.15654735C>T						PTPRO_ENST00000348962.2_Silent_p.S281S|PTPRO_ENST00000543886.1_Silent_p.S281S	p.S281S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			5	1173	+		Hepatocellular(102;0.244)	281			Fibronectin type-III 3.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.843C>T	CCDS8675.1																																																																																				0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			38	223	0	0	0	1	0	38	223				
KRT6C	286887	broad.mit.edu	37	12	52863465	52863465	+	Silent	SNP	G	G	A	rs371806019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52863465G>A	ENST00000252250.6	-	7	1460	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	471	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCACTCCTCGCCCTCCAGCA	0.582																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1411-1413)ggC>ggT		keratin 6C		G		0,4406		0,0,2203	98.0	88.0	91.0		1413	-1.2	1.0	12		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6C	NM_173086.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		471/565	52863465	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863465G>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1413C>T	12.37:g.52863465G>A							p.G471G	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	7	1460	-			471			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	c.1413C>T	CCDS8829.1																																																																																				0.582	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		91	468	0	0	0	1	0	91	468				
TTC17	55761	broad.mit.edu	37	11	43418898	43418898	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418898C>T	ENST00000039989.4	+	7	789	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Splice_Site_p.H259Y|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	259					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTCCTTAGGCACAATAAAGA	0.438																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.e7-1		tetratricopeptide repeat domain 17							154.0	128.0	137.0					11																	43418898		2203	4300	6503	SO:0001630	splice_region_variant	55761						binding	g.chr11:43418898C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.774-1C>T	11.37:g.43418898C>T						TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Splice_Site_p.H259_splice	p.H259_splice	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			7	789	+			259					G3XAB3|Q8NEC0	Splice_Site	SNP	ENST00000039989.4	37	c.773_splice	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804898	0.70682	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.51574	0.7;0.7	5.92	5.92	0.95590	.	0.183710	0.64402	D	0.000012	T	0.38799	0.1054	N	0.19112	0.55	0.34736	D	0.730297	P;P;P	0.50443	0.824;0.545;0.935	B;B;B	0.43508	0.242;0.124;0.422	T	0.36768	-0.9734	10	0.21014	T	0.42	-12.6988	20.3206	0.98668	0.0:1.0:0.0:0.0	.	259;259;259	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Y	259	ENSP00000299240:H259Y;ENSP00000039989:H259Y	ENSP00000039989:H259Y	H	+	1	0	TTC17	43375474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.520000	0.60524	2.809000	0.96659	0.655000	0.94253	CAC		0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	Missense_Mutation	99	462	0	0	0	1	0	99	462				
NCOA6	23054	broad.mit.edu	37	20	33345486	33345486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33345486C>T	ENST00000374796.2	-	8	3635	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	NCOA6_ENST00000359003.2_Silent_p.Q355Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	355	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGGAGTTGCTGTTGCATTG	0.592																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(1063-1065)caG>caA		nuclear receptor coactivator 6							89.0	86.0	87.0					20																	33345486		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345486C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1065G>A	20.37:g.33345486C>T						NCOA6_ENST00000359003.2_Silent_p.Q355Q	p.Q355Q			Q14686	NCOA6_HUMAN			8	3635	-			355			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.1065G>A	CCDS13241.1																																																																																				0.592	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		70	373	0	0	0	1	0	70	373				
PCDHA5	56143	broad.mit.edu	37	5	140202725	140202725	+	Silent	SNP	G	G	A	rs373077783		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202725G>A	ENST00000529859.1	+	1	1365	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	455	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGTTCGCGCAGCCCCAGT	0.677																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1363-1365)gcG>gcA				G	,,,,,,	0,4406		0,0,2203	71.0	73.0	72.0		,,,,1365,,1365	0.7	1.0	5		72	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,	,,,,455/937,,455/817	140202725	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140202725G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1365G>A	5.37:g.140202725G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A|PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A455A	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1365	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1365G>A	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		28	736	0	0	0	1	0	28	736				
CELF2	10659	broad.mit.edu	37	10	11363230	11363230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11363230C>T	ENST00000379261.4	+	11	1228	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	CELF2_ENST00000315874.4_Missense_Mutation_p.T361I|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000608830.1_Missense_Mutation_p.T359I|CELF2_ENST00000537122.1_Missense_Mutation_p.T274I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I|CELF2_ENST00000609692.1_Missense_Mutation_p.T359I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	379	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACGGCTGGCACCATGGACGCC	0.577																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(1135-1137)aCc>aTc		CUGBP, Elav-like family member 2							114.0	109.0	110.0					10																	11363230		2076	4217	6293	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363230C>T	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1136C>T	10.37:g.11363230C>T	ENSP00000368563:p.Thr379Ile					CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2_ENST00000315874.3_Missense_Mutation_p.T361I|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000537122.1_Missense_Mutation_p.T274I	p.T379I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			11	1228	+			379			Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1136C>T	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088708	0.76756	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.33	5.33	0.75918	.	0.150107	0.64402	D	0.000016	T	0.65048	0.2654	L	0.46157	1.445	0.58432	D	0.999999	P;B;B;P;P	0.37330	0.574;0.167;0.165;0.584;0.59	B;B;B;B;B	0.43478	0.421;0.063;0.029;0.239;0.239	T	0.66244	-0.5972	10	0.56958	D	0.05	-8.2134	19.2874	0.94084	0.0:1.0:0.0:0.0	.	367;380;392;392;379	B4DDE7;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;CELF2_HUMAN	I	379;379;392;392;361;359;361;361;369;361;274;185	ENSP00000368563:T379I;ENSP00000406451:T379I;ENSP00000389951:T392I;ENSP00000443926:T392I;ENSP00000382743:T361I;ENSP00000404834:T359I;ENSP00000315328:T361I;ENSP00000346426:T361I;ENSP00000388530:T361I;ENSP00000438884:T274I	ENSP00000315328:T361I	T	+	2	0	CELF2	11403236	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	2.789000	0.95967	0.558000	0.71614	ACC		0.577	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				78	425	0	0	0	1	0	78	425				
CDH19	28513	broad.mit.edu	37	18	64172320	64172320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:64172320C>T	ENST00000262150.2	-	12	2340	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAAAGACTGCCTGTATAGGCT	0.483																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(2047-2049)aGg>aAg		cadherin 19, type 2							165.0	158.0	160.0					18																	64172320		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172320C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2048G>A	18.37:g.64172320C>T	ENSP00000262150:p.Arg683Lys					CDH19_ENST00000540086.1_3'UTR	p.R683K	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			12	2340	-		Esophageal squamous(42;0.0132)	683					O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.2048G>A	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947956	0.73787	.	.	ENSG00000071991	ENST00000262150	T	0.76448	-1.02	5.19	5.19	0.71726	Cadherin, cytoplasmic domain (1);	0.094394	0.64402	D	0.000001	D	0.85044	0.5607	M	0.63428	1.95	0.28559	N	0.911229	D	0.76494	0.999	D	0.74023	0.982	T	0.80106	-0.1521	10	0.66056	D	0.02	.	12.45	0.55671	0.0:0.9229:0.0:0.0771	.	683	Q9H159	CAD19_HUMAN	K	683	ENSP00000262150:R683K	ENSP00000262150:R683K	R	-	2	0	CDH19	62323300	0.002000	0.14202	0.889000	0.34880	0.727000	0.41649	1.519000	0.35888	2.569000	0.86673	0.655000	0.94253	AGG		0.483	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		166	784	0	0	0	1	0	166	784				
BBS10	79738	broad.mit.edu	37	12	76742101	76742101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76742101G>A	ENST00000393262.3	-	1	121	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	13					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAACGCCGCCTTCACAGA	0.612									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(37-39)gCg>gTg		Bardet-Biedl syndrome 10							12.0	14.0	14.0					12																	76742101		2018	4170	6188	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76742101G>A	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.38C>T	12.37:g.76742101G>A	ENSP00000376946:p.Ala13Val		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170		p.A13V	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			1	121	-			13					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.38C>T	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206551	0.39003	.	.	ENSG00000179941	ENST00000393262	D	0.90004	-2.6	5.23	-2.25	0.06888	.	0.695765	0.11678	U	0.540041	T	0.72700	0.3493	N	0.12746	0.255	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.57516	-0.7798	10	0.24483	T	0.36	0.1479	4.4878	0.11799	0.4616:0.0:0.2864:0.252	.	13	Q8TAM1	BBS10_HUMAN	V	13	ENSP00000376946:A13V	ENSP00000376946:A13V	A	-	2	0	BBS10	75266232	0.000000	0.05858	0.059000	0.19551	0.658000	0.38924	-2.093000	0.01353	-0.365000	0.08076	0.561000	0.74099	GCG		0.612	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		18	69	0	0	0	1	0	18	69				
OAT	4942	broad.mit.edu	37	10	126094013	126094013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126094013C>T	ENST00000368845.5	-	5	732	c.640G>A	c.(640-642)Gca>Aca	p.A214T	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Missense_Mutation_p.A76T	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	214					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	ACCTCCAGTGCGGGCAGATCA	0.403																																						ENST00000368845.5																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(640-642)Gca>Aca		ornithine aminotransferase	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						102.0	87.0	92.0					10																	126094013		2203	4300	6503	SO:0001583	missense	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126094013C>T	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.640G>A	10.37:g.126094013C>T	ENSP00000357838:p.Ala214Thr					OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Missense_Mutation_p.A76T	p.A214T	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN			5	732	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	214					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	37	c.640G>A	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704650	0.68615	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.99060	-5.38;-5.38	4.4	4.4	0.53042	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.105835	0.64402	D	0.000005	D	0.98880	0.9621	M	0.86864	2.845	0.80722	D	1	P	0.51351	0.944	P	0.48524	0.58	D	0.99880	1.1112	10	0.66056	D	0.02	-16.4873	17.8803	0.88838	0.0:1.0:0.0:0.0	.	214	P04181	OAT_HUMAN	T	76;214	ENSP00000439042:A76T;ENSP00000357838:A214T	ENSP00000357838:A214T	A	-	1	0	OAT	126084003	0.999000	0.42202	0.990000	0.47175	0.639000	0.38242	3.565000	0.53798	2.406000	0.81754	0.563000	0.77884	GCA		0.403	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		31	324	0	0	0	1	0	31	324				
MAN1A2	10905	broad.mit.edu	37	1	117945040	117945040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117945040G>A	ENST00000356554.3	+	2	1270	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	179					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGACATAAGAGAGAAAAGGGA	0.358																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.(535-537)Gag>Aag		mannosidase, alpha, class 1A, member 2							63.0	66.0	65.0					1																	117945040		2203	4296	6499	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117945040G>A	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.535G>A	1.37:g.117945040G>A	ENSP00000348959:p.Glu179Lys					MAN1A2_ENST00000482811.1_Intron	p.E179K	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1270	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	179					Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.535G>A	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146089	0.37923	.	.	ENSG00000198162	ENST00000356554	D	0.83673	-1.75	5.76	-3.91	0.04168	.	0.499176	0.22515	N	0.059058	T	0.59851	0.2224	L	0.49126	1.545	0.47621	D	0.999476	B	0.02656	0.0	B	0.06405	0.002	T	0.39921	-0.9590	10	0.33141	T	0.24	-0.5461	10.915	0.47131	0.169:0.1246:0.7064:0.0	.	179	O60476	MA1A2_HUMAN	K	179	ENSP00000348959:E179K	ENSP00000348959:E179K	E	+	1	0	MAN1A2	117746563	1.000000	0.71417	0.055000	0.19348	0.909000	0.53808	2.466000	0.45084	-0.759000	0.04684	-0.136000	0.14681	GAG		0.358	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		55	238	0	0	0	1	0	55	238				
TINF2	26277	broad.mit.edu	37	14	24710962	24710962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24710962C>A	ENST00000267415.7	-	3	659	c.318G>T	c.(316-318)aaG>aaT	p.K106N	TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000558566.1_Missense_Mutation_p.K106N|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000399423.4_Missense_Mutation_p.K106N|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	106					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCTCCAAAATCTTCCTCAGAT	0.493									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000399423.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(316-318)aaG>aaT		TERF1 (TRF1)-interacting nuclear factor 2							69.0	65.0	66.0					14																	24710962		1904	4128	6032	SO:0001583	missense	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24710962C>A	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.318G>T	14.37:g.24710962C>A	ENSP00000267415:p.Lys106Asn					TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N|TINF2_ENST00000267415.7_Missense_Mutation_p.K106N|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000558566.1_Missense_Mutation_p.K106N	p.K106N	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	3	648	-			106					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.318G>T	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406045	0.62288	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	T;T;T	0.45276	0.9;0.9;0.9	5.13	3.31	0.37934	.	0.255699	0.39544	N	0.001336	T	0.54334	0.1852	M	0.66939	2.045	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;P;P	0.63877	0.919;0.801;0.801	T	0.50988	-0.8762	10	0.41790	T	0.15	-9.6111	7.729	0.28775	0.0:0.8111:0.0:0.1889	.	71;106;106	B4DFJ1;Q9BSI4-2;Q9BSI4	.;.;TINF2_HUMAN	N	106;71;106	ENSP00000267415:K106N;ENSP00000442154:K71N;ENSP00000382350:K106N	ENSP00000267415:K106N	K	-	3	2	TINF2	23780802	0.980000	0.34600	0.997000	0.53966	0.767000	0.43475	0.129000	0.15830	0.743000	0.32719	0.491000	0.48974	AAG		0.493	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			23	96	1	0	1.28384e-07	1	1.33406e-07	23	96				
ZNF3	7551	broad.mit.edu	37	7	99669413	99669413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669413C>T	ENST00000424697.1	-	6	1000	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.E232K|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	232					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.E232K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACACTCATTACATTCA	0.433																																						ENST00000303915.6																			1	Substitution - Missense(1)	p.E232K(1)	kidney(1)	NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(694-696)Gag>Aag		zinc finger protein 3							76.0	85.0	82.0					7																	99669413		2203	4300	6503	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669413C>T	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.694G>A	7.37:g.99669413C>T	ENSP00000415358:p.Glu232Lys					ZNF3_ENST00000424697.1_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K	p.E232K			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1661	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	232					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.694G>A	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252671	0.59212	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.16769	0.0403	L	0.28344	0.845	0.09310	N	1	D;D	0.56746	0.962;0.977	P;D	0.65684	0.702;0.937	T	0.02214	-1.1194	10	0.87932	D	0	-25.5551	15.3141	0.74059	0.0:1.0:0.0:0.0	.	215;232	B3KRP4;P17036	.;ZNF3_HUMAN	K	232	ENSP00000415358:E232K;ENSP00000306372:E232K;ENSP00000299667:E232K	ENSP00000299667:E232K	E	-	1	0	ZNF3	99507349	0.002000	0.14202	0.990000	0.47175	0.993000	0.82548	0.506000	0.22658	2.568000	0.86640	0.655000	0.94253	GAG		0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		82	337	0	0	0	1	0	82	337				
CHAT	1103	broad.mit.edu	37	10	50854680	50854680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50854680G>T	ENST00000337653.2	+	8	1394	c.1241G>T	c.(1240-1242)aGc>aTc	p.S414I	CHAT_ENST00000351556.3_Missense_Mutation_p.S296I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I|CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000395559.2_Missense_Mutation_p.S296I|CHAT_ENST00000395562.2_Missense_Mutation_p.S332I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	414					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGAGGCTACAGCAAGAACGGG	0.632																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(994-996)aGc>aTc		choline O-acetyltransferase	Choline(DB00122)						80.0	68.0	72.0					10																	50854680		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50854680G>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1241G>T	10.37:g.50854680G>T	ENSP00000337103:p.Ser414Ile					CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000351556.3_Missense_Mutation_p.S296I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I|CHAT_ENST00000337653.2_Missense_Mutation_p.S414I|CHAT_ENST00000395559.2_Missense_Mutation_p.S296I	p.S332I	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	9	1464	+		all_neural(218;0.107)	414					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.995G>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608387	0.46527	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.46	5.46	0.80206	.	0.273852	0.41823	D	0.000806	D	0.82710	0.5096	N	0.20986	0.625	0.32519	N	0.536469	B;P	0.49635	0.314;0.926	B;P	0.45377	0.129;0.478	D	0.85254	0.1046	10	0.40728	T	0.16	-21.1977	10.4463	0.44497	0.1195:0.0:0.8805:0.0	.	296;414	F8W8I2;P28329	.;CLAT_HUMAN	I	296;296;296;414;332;296	ENSP00000343486:S296I;ENSP00000345878:S296I;ENSP00000378926:S296I;ENSP00000337103:S414I;ENSP00000378929:S332I;ENSP00000390521:S296I	ENSP00000337103:S414I	S	+	2	0	CHAT	50524686	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	3.560000	0.53763	2.569000	0.86673	0.655000	0.94253	AGC		0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		54	257	1	0	6.14515e-18	1	6.80267e-18	54	257				
ASL	435	broad.mit.edu	37	7	65557861	65557861	+	Missense_Mutation	SNP	C	C	T	rs144591360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65557861C>T	ENST00000304874.9	+	17	1459	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ASL_ENST00000380839.4_Missense_Mutation_p.R427C|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.R433C|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.R453C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	453					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CTGGCAGATCCGCCAGGTGCG	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19355	0.0		0.0	False		,,,				2504	0.001					ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1357-1359)Cgc>Tgc		argininosuccinate lyase	L-Arginine(DB00125)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	35.0	35.0	35.0		1357,1357,1297,1279	-8.9	0.0	7	dbSNP_134	35	0,8598		0,0,4299	yes	missense,missense,missense,missense	ASL	NM_000048.3,NM_001024943.1,NM_001024944.1,NM_001024946.1	180,180,180,180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	453/465,453/465,433/445,427/439	65557861	1,13003	2203	4299	6502	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557861C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1357C>T	7.37:g.65557861C>T	ENSP00000307188:p.Arg453Cys					ASL_ENST00000395332.3_Missense_Mutation_p.R453C|ASL_ENST00000464970.1_3'UTR|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.R433C|ASL_ENST00000380839.4_Missense_Mutation_p.R427C	p.R453C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			17	1459	+			453					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1357C>T	CCDS5531.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	11.57	1.677791	0.29783	2.27E-4	0.0	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51	5.53	-8.89	0.00785	L-Aspartase-like (1);	0.713318	0.14248	N	0.331614	D	0.96670	0.8913	M	0.78049	2.395	0.25305	N	0.989249	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	D	0.87673	0.2542	10	0.72032	D	0.01	.	4.0702	0.09879	0.3506:0.2577:0.3189:0.0728	.	427;433;453	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	C	453;427;453;433	ENSP00000307188:R453C;ENSP00000370219:R427C;ENSP00000378741:R453C;ENSP00000378740:R433C	ENSP00000307188:R453C	R	+	1	0	ASL	65195296	0.002000	0.14202	0.009000	0.14445	0.611000	0.37282	-0.279000	0.08479	-1.686000	0.01439	-1.332000	0.01269	CGC		0.657	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		9	312	0	0	0	1	0	9	312				
ZFC3H1	196441	broad.mit.edu	37	12	72032277	72032277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72032277G>A	ENST00000378743.3	-	7	2004	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	549	Pro-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAAAATGGCGGTTGCACTGG	0.343																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1645-1647)cCg>cTg		zinc finger, C3H1-type containing							50.0	50.0	50.0					12																	72032277		1805	4069	5874	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72032277G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1646C>T	12.37:g.72032277G>A	ENSP00000368017:p.Pro549Leu						p.P549L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			7	2004	-			549			Pro-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1646C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101597	0.20632	.	.	ENSG00000133858	ENST00000378743	T	0.30448	1.53	5.39	3.52	0.40303	.	0.401401	0.25680	N	0.029017	T	0.17152	0.0412	N	0.12182	0.205	0.58432	D	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.04191	-1.0970	10	0.32370	T	0.25	.	11.069	0.47993	0.0:0.0:0.6645:0.3355	.	549	O60293	ZC3H1_HUMAN	L	549	ENSP00000368017:P549L	ENSP00000368017:P549L	P	-	2	0	ZFC3H1	70318544	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	1.804000	0.38873	0.603000	0.29913	0.655000	0.94253	CCG		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		18	68	0	0	0	1	0	18	68				
UNC79	57578	broad.mit.edu	37	14	94170971	94170971	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94170971C>A	ENST00000393151.2	+	49	7666	c.7666C>A	c.(7666-7668)Ctg>Atg	p.L2556M	UNC79_ENST00000555664.1_Splice_Site_p.L2517M|UNC79_ENST00000553484.1_Splice_Site_p.L2578M|UNC79_ENST00000256339.4_Splice_Site_p.L2379M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2556					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCTATACAGCTGATACCTAT	0.433																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.e50-1		unc-79 homolog (C. elegans)							175.0	165.0	168.0					14																	94170971		2203	4300	6503	SO:0001630	splice_region_variant	57578					integral to membrane		g.chr14:94170971C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7666-1C>A	14.37:g.94170971C>A						UNC79_ENST00000555664.1_Splice_Site_p.L2517_splice|UNC79_ENST00000393151.2_Splice_Site_p.L2556_splice|UNC79_ENST00000256339.4_Splice_Site_p.L2379_splice	p.L2578_splice			Q9P2D8	UNC79_HUMAN			50	7886	+			2556					B5MDL6|Q6ZUT7	Splice_Site	SNP	ENST00000393151.2	37	c.7731_splice		.	.	.	.	.	.	.	.	.	.	c	19.12	3.766397	0.69878	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.39406	1.09;1.14;1.08;1.09	5.77	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.64057	0.2564	M	0.73962	2.25	0.49389	D	0.999786	D	0.89917	1.0	D	0.91635	0.999	T	0.66176	-0.5989	9	.	.	.	-13.0009	14.5704	0.68208	0.0:0.9302:0.0:0.0698	.	2578	C9JQL1	.	M	2379;2517;2578;2556;2578	ENSP00000256339:L2379M;ENSP00000450868:L2517M;ENSP00000451360:L2578M;ENSP00000376858:L2556M	.	L	+	1	2	KIAA1409	93240724	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.347000	0.52200	1.436000	0.47453	0.651000	0.88453	CTG		0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	Missense_Mutation	73	399	1	0	7.07328e-35	1	8.4269e-35	73	399				
IGF2R	3482	broad.mit.edu	37	6	160494321	160494321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160494321G>A	ENST00000356956.1	+	34	4915	c.4767G>A	c.(4765-4767)caG>caA	p.Q1589Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1589					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGTCCTGCAGCTGGTGTACA	0.577																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4765-4767)caG>caA		insulin-like growth factor 2 receptor							186.0	144.0	158.0					6																	160494321		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160494321G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4767G>A	6.37:g.160494321G>A							p.Q1589Q	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	34	4915	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1589					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.4767G>A	CCDS5273.1																																																																																				0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		22	229	0	0	0	1	0	22	229				
XKR5	389610	broad.mit.edu	37	8	6690240	6690240	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6690240G>A	ENST00000518724.1	-	0	391				GS1-24F4.2_ENST00000500823.2_lincRNA			Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGTTCTTACCGCTTCCAAACA	0.527																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5							83.0	93.0	89.0					8																	6690240		2095	4221	6316			389610					integral to membrane		g.chr8:6690240G>A	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6690240G>A										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	391	-								Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.527	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		66	316	0	0	0	1	0	66	316				
NOD1	10392	broad.mit.edu	37	7	30490965	30490965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30490965C>T	ENST00000222823.4	-	6	2593	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	690					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTGCAGTCGGCCGAGCAGGCG	0.627																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2068-2070)Gcc>Acc		nucleotide-binding oligomerization domain containing 1							92.0	101.0	98.0					7																	30490965		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30490965C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2068G>A	7.37:g.30490965C>T	ENSP00000222823:p.Ala690Thr						p.A690T	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	2593	-			690					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2068G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956733	0.73902	.	.	ENSG00000106100	ENST00000222823	T	0.53857	0.6	5.71	5.71	0.89125	.	0.157867	0.56097	D	0.000037	T	0.62998	0.2474	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	P	0.53490	0.727	T	0.65195	-0.6227	10	0.56958	D	0.05	.	13.7785	0.63069	0.1532:0.8468:0.0:0.0	.	690	Q9Y239	NOD1_HUMAN	T	690	ENSP00000222823:A690T	ENSP00000222823:A690T	A	-	1	0	NOD1	30457490	0.990000	0.36364	0.865000	0.33974	0.953000	0.61014	2.834000	0.48167	2.709000	0.92574	0.655000	0.94253	GCC		0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			105	422	0	0	0	1	0	105	422				
SPECC1	92521	broad.mit.edu	37	17	20224712	20224712	+	IGR	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20224712G>T	ENST00000395530.2	+	0	8133				U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAAACCGGTAGCGTCAGGAGC	0.637																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:20224712G>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224712G>T						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1	.	.	.	.	.	.	.	.	.	.	.	2.672	-0.277399	0.05679	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	0.361	0.361	0.16107	.	.	.	.	.	T	0.53658	0.1810	.	.	.	0.23563	N	0.997407	.	.	.	.	.	.	T	0.63484	-0.6627	3	0.62326	D	0.03	.	.	.	.	.	.	.	.	I	28	.	ENSP00000343605:S28I	S	+	2	0	CCDC144C	20165304	0.012000	0.17670	0.002000	0.10522	0.002000	0.02628	0.219000	0.17641	0.406000	0.25560	0.411000	0.27672	AGC		0.637	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		63	194	1	0	1.45723e-30	1	1.71029e-30	63	194				
SNX7	51375	broad.mit.edu	37	1	99161198	99161198	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161198A>C	ENST00000306121.3	+	5	773	c.764A>C	c.(763-765)aAc>aCc	p.N255T	SNX7_ENST00000370189.5_Missense_Mutation_p.N191T|SNX7_ENST00000529992.1_Missense_Mutation_p.N200T	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	191					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAAATGAATAACTTTATTGAA	0.383																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(571-573)aAc>aCc		sorting nexin 7							46.0	56.0	53.0					1																	99161198		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161198A>C	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.764A>C	1.37:g.99161198A>C	ENSP00000304429:p.Asn255Thr					SNX7_ENST00000529992.1_Missense_Mutation_p.N200T|SNX7_ENST00000306121.3_Missense_Mutation_p.N255T	p.N191T			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	6	936	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	191					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.572A>C	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275549	0.40294	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.21031	2.03;2.03;2.03	5.65	3.29	0.37713	.	0.577696	0.20020	N	0.100928	T	0.04227	0.0117	N	0.14661	0.345	0.27522	N	0.951357	B;B;B	0.31351	0.32;0.217;0.053	B;B;B	0.34991	0.193;0.138;0.062	T	0.40572	-0.9556	10	0.26408	T	0.33	-8.4051	8.6247	0.33881	0.8021:0.1305:0.0674:0.0	.	200;255;191	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	T	191;200;255	ENSP00000359208:N191T;ENSP00000434731:N200T;ENSP00000304429:N255T	ENSP00000304429:N255T	N	+	2	0	SNX7	98933786	0.991000	0.36638	0.988000	0.46212	0.884000	0.51177	3.117000	0.50407	0.483000	0.27608	-0.323000	0.08544	AAC		0.383	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			67	269	0	0	0	1	0	67	269				
OR10J1	26476	broad.mit.edu	37	1	159410122	159410122	+	Missense_Mutation	SNP	C	C	T	rs143481177		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159410122C>T	ENST00000423932.3	+	1	611	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	192					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTGACATCCGCCCTGTGAT	0.478																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(574-576)Cgc>Tgc		olfactory receptor, family 10, subfamily J, member 1		C	CYS/ARG	0,4406		0,0,2203	233.0	210.0	218.0		574	2.3	0.7	1	dbSNP_134	218	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR10J1	NM_012351.2	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	192/321	159410122	4,13002	2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410122C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.574C>T	1.37:g.159410122C>T	ENSP00000399078:p.Arg192Cys					RP11-550P17.5_ENST00000431862.1_RNA	p.R192C	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	611	+	all_hematologic(112;0.0429)		192					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.574C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251879	0.22880	0.0	4.65E-4	ENSG00000196184	ENST00000423932	T	0.00145	8.67	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.197989	0.25222	N	0.032234	T	0.00073	0.0002	L	0.40543	1.245	0.09310	N	0.999991	D	0.76494	0.999	D	0.65140	0.932	T	0.13791	-1.0496	10	0.62326	D	0.03	.	3.8628	0.09004	0.1888:0.6068:0.0:0.2043	.	192	P30954	O10J1_HUMAN	C	192	ENSP00000399078:R192C	ENSP00000399078:R192C	R	+	1	0	OR10J1	157676746	0.000000	0.05858	0.657000	0.29651	0.554000	0.35429	-0.571000	0.05889	0.503000	0.28060	0.650000	0.86243	CGC		0.478	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		145	723	0	0	0	1	0	145	723				
NOL10	79954	broad.mit.edu	37	2	10712235	10712235	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10712235G>T	ENST00000381685.5	-	21	2134	c.2029C>A	c.(2029-2031)Ctg>Atg	p.L677M	NOL10_ENST00000542668.1_Missense_Mutation_p.L627M|NOL10_ENST00000345985.3_Missense_Mutation_p.L627M|NOL10_ENST00000538384.1_Missense_Mutation_p.L651M	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTGACTTCAGGTGTCCGGCC	0.473																																						ENST00000345985.3																			0											c.(1879-1881)Ctg>Atg		nucleolar protein 10							280.0	247.0	258.0					2																	10712235		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10712235G>T	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.2029C>A	2.37:g.10712235G>T	ENSP00000371101:p.Leu677Met					NOL10_ENST00000538384.1_Missense_Mutation_p.L651M|NOL10_ENST00000381685.5_Missense_Mutation_p.L677M|NOL10_ENST00000542668.1_Missense_Mutation_p.L627M	p.L627M	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	20	1989	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		677					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1879C>A	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617780	0.66787	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.51071	0.72;1.36;1.36;1.36	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.74258	2.255	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.97;0.97;0.976	T	0.67711	-0.5600	10	0.49607	T	0.09	-12.1252	11.6934	0.51529	0.1419:0.0:0.8581:0.0	.	651;677;627	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	M	627;677;627;651	ENSP00000263837:L627M;ENSP00000371101:L677M;ENSP00000437625:L627M;ENSP00000439663:L651M	ENSP00000263837:L627M	L	-	1	2	NOL10	10629686	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.564000	0.45931	1.420000	0.47138	0.655000	0.94253	CTG		0.473	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		308	852	1	0	4.66897e-105	1	6.00787e-105	308	852				
TAS1R2	80834	broad.mit.edu	37	1	19166262	19166262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19166262C>T	ENST00000375371.3	-	6	2372	c.2351G>A	c.(2350-2352)aGc>aAc	p.S784N		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	784					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGCACCCCGCTGTAGGCAGA	0.567																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2350-2352)aGc>aAc		taste receptor, type 1, member 2	Aspartame(DB00168)						122.0	92.0	102.0					1																	19166262		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166262C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2351G>A	1.37:g.19166262C>T	ENSP00000364520:p.Ser784Asn						p.S784N	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2372	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	784					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2351G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.733088	0.00687	.	.	ENSG00000179002	ENST00000375371	D	0.88124	-2.34	5.06	1.4	0.22301	GPCR, family 3, C-terminal (2);	2.888830	0.01588	N	0.021403	T	0.68559	0.3014	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61292	-0.7092	10	0.19147	T	0.46	.	6.9083	0.24321	0.0:0.2752:0.0:0.7248	.	784	Q8TE23	TS1R2_HUMAN	N	784	ENSP00000364520:S784N	ENSP00000364520:S784N	S	-	2	0	TAS1R2	19038849	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	0.137000	0.15995	0.002000	0.14630	-1.750000	0.00680	AGC		0.567	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			31	148	0	0	0	1	0	31	148				
MRGPRE	116534	broad.mit.edu	37	11	3249343	3249343	+	Silent	SNP	G	G	A	rs369020369		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249343G>A	ENST00000389832.5	-	2	993	c.687C>T	c.(685-687)tgC>tgT	p.C229C	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.C228C			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCAGGCCGCAGAAGAGGA	0.662																																						ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(685-687)tgC>tgT		MAS-related GPR, member E		G		0,4106		0,0,2053	15.0	22.0	20.0		684	-0.4	0.0	11		20	1,8369		0,1,4184	no	coding-synonymous	MRGPRE	NM_001039165.2		0,1,6237	AA,AG,GG		0.0119,0.0,0.0080		228/312	3249343	1,12475	2053	4185	6238	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249343G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.687C>T	11.37:g.3249343G>A						AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.C228C	p.C229C			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	993	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	228					Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.687C>T																																																																																					0.662	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		14	51	0	0	0	1	0	14	51				
SDF4	51150	broad.mit.edu	37	1	1153037	1153037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1153037G>A	ENST00000360001.6	-	7	1206	c.944C>T	c.(943-945)gCg>gTg	p.A315V	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	315	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCGTTCAGCGCGTTGTACTC	0.652																																						ENST00000360001.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(943-945)gCg>gTg		stromal cell derived factor 4							146.0	147.0	146.0					1																	1153037		2203	4300	6503	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1153037G>A		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.944C>T	1.37:g.1153037G>A	ENSP00000353094:p.Ala315Val					SDF4_ENST00000263741.7_3'UTR	p.A315V			Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	7	1206	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	315			EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.944C>T	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	g	36	5.899314	0.97081	.	.	ENSG00000078808	ENST00000360001	T	0.09073	3.02	5.33	5.33	0.75918	EF-hand-like domain (1);	0.050815	0.85682	D	0.000000	T	0.30386	0.0763	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.01858	-1.1259	10	0.87932	D	0	-28.0616	18.0268	0.89271	0.0:0.0:1.0:0.0	.	315	Q9BRK5	CAB45_HUMAN	V	315	ENSP00000353094:A315V	ENSP00000353094:A315V	A	-	2	0	SDF4	1142900	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.440000	0.97547	2.498000	0.84270	0.479000	0.44913	GCG		0.652	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		113	478	0	0	0	1	0	113	478				
DNAH9	1770	broad.mit.edu	37	17	11535968	11535968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11535968C>T	ENST00000262442.4	+	8	1651	c.1583C>T	c.(1582-1584)aCt>aTt	p.T528I	DNAH9_ENST00000454412.2_Missense_Mutation_p.T528I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	528	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATTGGGGACTATCTTTATT	0.433																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1582-1584)aCt>aTt		dynein, axonemal, heavy chain 9							125.0	121.0	123.0					17																	11535968		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11535968C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1583C>T	17.37:g.11535968C>T	ENSP00000262442:p.Thr528Ile					DNAH9_ENST00000454412.2_Missense_Mutation_p.T528I	p.T528I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	8	1651	+		Breast(5;0.0122)|all_epithelial(5;0.131)	528			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1583C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058066	0.36277	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.57273	0.41;0.41	5.18	4.0	0.46444	Dynein heavy chain, domain-1 (1);	2.959590	0.01254	N	0.008973	T	0.64659	0.2618	M	0.63843	1.955	0.31554	N	0.658352	P	0.49090	0.919	P	0.49597	0.616	T	0.57318	-0.7832	10	0.72032	D	0.01	.	11.5811	0.50891	0.0:0.899:0.0:0.101	.	528	Q9NYC9	DYH9_HUMAN	I	528	ENSP00000262442:T528I;ENSP00000414874:T528I	ENSP00000262442:T528I	T	+	2	0	DNAH9	11476693	0.612000	0.27000	0.775000	0.31657	0.083000	0.17756	3.276000	0.51646	2.427000	0.82271	0.650000	0.86243	ACT		0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		80	452	0	0	0	1	0	80	452				
MED23	9439	broad.mit.edu	37	6	131923466	131923466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131923466G>A	ENST00000368068.3	-	17	2166	c.1987C>T	c.(1987-1989)Ccg>Tcg	p.P663S	MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000368060.3_Missense_Mutation_p.P663S|MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000403834.3_Missense_Mutation_p.P669S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.P669S	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	663					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTAAACTGCGGTTGTACCTCT	0.418																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2005-2007)Ccg>Tcg		mediator complex subunit 23							141.0	123.0	129.0					6																	131923466		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131923466G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1987C>T	6.37:g.131923466G>A	ENSP00000357047:p.Pro663Ser					MED23_ENST00000368060.3_Missense_Mutation_p.P663S|MED23_ENST00000368058.1_Missense_Mutation_p.P669S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S|MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368068.3_Missense_Mutation_p.P663S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S	p.P669S			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	17	2178	-	Breast(56;0.0753)		663					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2005C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904542	0.72868	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.985;0.981	P;D;P;P	0.75484	0.863;0.986;0.817;0.721	T	0.81833	-0.0751	10	0.48119	T	0.1	-5.0311	19.8316	0.96638	0.0:0.0:1.0:0.0	.	304;669;663;669	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	S	669;663;669;663;52;669;304;669;669	ENSP00000346588:P669S;ENSP00000357047:P663S;ENSP00000384536:P669S;ENSP00000357039:P663S;ENSP00000357037:P669S;ENSP00000439977:P304S;ENSP00000357032:P669S;ENSP00000437818:P669S	ENSP00000346588:P669S	P	-	1	0	MED23	131965159	1.000000	0.71417	0.999000	0.59377	0.358000	0.29455	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	CCG		0.418	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			32	296	0	0	0	1	0	32	296				
PCDHB5	26167	broad.mit.edu	37	5	140516480	140516480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516480G>A	ENST00000231134.5	+	1	1681	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCTACTCGCTGCTGCCGC	0.647																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1462-1464)tcG>tcA									101.0	101.0	101.0					5																	140516480		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516480G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1464G>A	5.37:g.140516480G>A							p.S488S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1681	+			488			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1464G>A	CCDS4247.1																																																																																				0.647	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		212	888	0	0	0	1	0	212	888				
POU4F2	5458	broad.mit.edu	37	4	147561405	147561405	+	Missense_Mutation	SNP	G	G	T	rs537218174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561405G>T	ENST00000281321.3	+	2	923	c.675G>T	c.(673-675)atG>atT	p.M225I	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	225					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TGGCCACCATGAACCCCATGC	0.726																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(673-675)atG>atT		POU class 4 homeobox 2							12.0	14.0	13.0					4																	147561405		2193	4289	6482	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561405G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.675G>T	4.37:g.147561405G>T	ENSP00000281321:p.Met225Ile						p.M225I	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	923	+	all_hematologic(180;0.151)		225					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.675G>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163240	0.38217	.	.	ENSG00000151615	ENST00000281321	D	0.82984	-1.67	5.52	5.52	0.82312	.	0.689044	0.16201	N	0.224911	T	0.74473	0.3721	N	0.19112	0.55	0.58432	D	0.999999	B	0.15719	0.014	B	0.14578	0.011	T	0.66697	-0.5858	10	0.21014	T	0.42	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	225	Q12837	PO4F2_HUMAN	I	225	ENSP00000281321:M225I	ENSP00000281321:M225I	M	+	3	0	POU4F2	147780855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.035000	0.57297	2.609000	0.88269	0.462000	0.41574	ATG		0.726	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		25	85	1	0	9.57634e-11	1	1.01752e-10	25	85				
EXOC3L4	91828	broad.mit.edu	37	14	103566837	103566837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103566837G>A	ENST00000380069.3	+	1	357	c.281G>A	c.(280-282)gGc>gAc	p.G94D	RP11-736N17.8_ENST00000559843.1_RNA	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	94					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CTGAATGACGGCCCAGCTACC	0.642																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(280-282)gGc>gAc		exocyst complex component 3-like 4							20.0	21.0	21.0					14																	103566837		2203	4298	6501	SO:0001583	missense	91828							g.chr14:103566837G>A	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.281G>A	14.37:g.103566837G>A	ENSP00000369409:p.Gly94Asp						p.G94D	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			1	357	+			94					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.281G>A	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827958	0.50845	.	.	ENSG00000205436	ENST00000380069	T	0.05258	3.47	3.06	3.06	0.35304	.	0.089659	0.41938	D	0.000782	T	0.07908	0.0198	L	0.36672	1.1	0.09310	N	1	D	0.54207	0.965	P	0.51016	0.656	T	0.28202	-1.0051	10	0.15066	T	0.55	-17.8304	9.8635	0.41129	0.0:0.0:1.0:0.0	.	94	Q17RC7	EX3L4_HUMAN	D	94	ENSP00000369409:G94D	ENSP00000369409:G94D	G	+	2	0	EXOC3L4	102636590	0.018000	0.18449	0.005000	0.12908	0.078000	0.17371	2.402000	0.44521	2.017000	0.59298	0.462000	0.41574	GGC		0.642	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		34	105	0	0	0	1	0	34	105				
CCM2	83605	broad.mit.edu	37	7	45113169	45113169	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45113169C>T	ENST00000258781.6	+	8	1063	c.914C>T	c.(913-915)aCg>aTg	p.T305M	CCM2_ENST00000474617.1_Splice_Site_p.T208M|CCM2_ENST00000475551.1_Splice_Site_p.T299M|CCM2_ENST00000541586.1_Splice_Site_p.T247M|CCM2_ENST00000544363.1_Splice_Site_p.T214M|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Splice_Site_p.T326M	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	305	Harmonin homology domain.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TACATGCTGACGGTAGGCCTC	0.657																																						ENST00000381112.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.e8+1		cerebral cavernous malformation 2							54.0	44.0	48.0					7																	45113169		2203	4300	6503	SO:0001630	splice_region_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45113169C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.915+1C>T	7.37:g.45113169C>T						CCM2_ENST00000474617.1_Splice_Site_p.T208_splice|CCM2_ENST00000541586.1_Splice_Site_p.T247_splice|CCM2_ENST00000475551.1_Splice_Site_p.T299_splice|CCM2_ENST00000258781.6_Splice_Site_p.T305_splice|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Splice_Site_p.T214_splice	p.T326_splice	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN			8	1656	+			305					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Splice_Site	SNP	ENST00000258781.6	37	c.978_splice	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931964	0.92389	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.57	5.57	0.84162	.	0.049950	0.85682	D	0.000000	T	0.67097	0.2857	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.83275	0.984;0.977;0.882;0.996	T	0.68303	-0.5444	10	0.52906	T	0.07	-11.7598	18.1184	0.89563	0.0:1.0:0.0:0.0	.	326;214;247;305	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	M	305;247;214;299;326;208	ENSP00000258781:T305M;ENSP00000444725:T247M;ENSP00000438035:T214M;ENSP00000417180:T299M;ENSP00000370503:T326M;ENSP00000419474:T208M	ENSP00000258781:T305M	T	+	2	0	CCM2	45079694	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	7.470000	0.80973	2.622000	0.88805	0.655000	0.94253	ACG		0.657	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443	Missense_Mutation	35	124	0	0	0	1	0	35	124				
PCNT	5116	broad.mit.edu	37	21	47769052	47769052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769052C>T	ENST00000359568.5	+	7	1266	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	387	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATTGGCAGAACAGAGAGCTGA	0.368																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1159-1161)Cag>Tag		pericentrin							119.0	124.0	123.0					21																	47769052		2203	4300	6503	SO:0001587	stop_gained	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769052C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1159C>T	21.37:g.47769052C>T	ENSP00000352572:p.Gln387*					PCNT_ENST00000480896.1_3'UTR	p.Q387*	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			7	1266	+	Breast(49;0.112)		387			Glu-rich.		O43152|Q7Z7C9	Nonsense_Mutation	SNP	ENST00000359568.5	37	c.1159C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	37	6.425935	0.97555	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.0807	0.59112	0.0:0.8266:0.1734:0.0	.	.	.	.	X	387;374	.	ENSP00000338675:Q374X	Q	+	1	0	PCNT	46593480	0.997000	0.39634	1.000000	0.80357	0.868000	0.49771	3.357000	0.52277	2.630000	0.89119	0.558000	0.71614	CAG		0.368	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		55	577	0	0	0	1	0	55	577				
SCN5A	6331	broad.mit.edu	37	3	38622804	38622804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622804G>A	ENST00000333535.4	-	17	2995	c.2846C>T	c.(2845-2847)gCc>gTc	p.A949V	SCN5A_ENST00000413689.1_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	949					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCATCAGGGGCTGTGAGGTT	0.582																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2845-2847)gCc>gTc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						36.0	39.0	38.0					3																	38622804		2122	4259	6381	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622804G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2846C>T	3.37:g.38622804G>A	ENSP00000328968:p.Ala949Val					SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V	p.A949V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3039	-	Medulloblastoma(35;0.163)		949					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2846C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543967	0.86022	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96716	-4.01;-4.04;-4.04;-4.02;-4.04;-4.01;-4.04;-4.1;-4.02;-4.02	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.999;0.996;1.0	D;D;D;D;D;P;D	0.85130	0.994;0.985;0.997;0.994;0.994;0.834;0.997	D	0.98974	1.0802	10	0.62326	D	0.03	.	17.6188	0.88075	0.0:0.0:1.0:0.0	.	949;949;949;949;949;949;949	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	949	ENSP00000398962:A949V;ENSP00000398266:A949V;ENSP00000410257:A949V;ENSP00000388797:A949V;ENSP00000397915:A949V;ENSP00000416634:A949V;ENSP00000328968:A949V;ENSP00000399524:A949V;ENSP00000403355:A949V;ENSP00000413996:A949V	ENSP00000328968:A949V	A	-	2	0	SCN5A	38597808	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.500000	0.73687	2.399000	0.81585	0.655000	0.94253	GCC		0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		31	90	0	0	0	1	0	31	90				
LRBA	987	broad.mit.edu	37	4	151793872	151793872	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151793872C>A	ENST00000357115.3	-	18	2444	c.2201G>T	c.(2200-2202)gGa>gTa	p.G734V	LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000535741.1_Missense_Mutation_p.G734V|LRBA_ENST00000507224.1_Missense_Mutation_p.G734V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	734						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TACCCTGATTCCTTCACTTTT	0.308																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2200-2202)gGa>gTa		LPS-responsive vesicle trafficking, beach and anchor containing							89.0	88.0	89.0					4																	151793872		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151793872C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2201G>T	4.37:g.151793872C>A	ENSP00000349629:p.Gly734Val					LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000357115.3_Missense_Mutation_p.G734V|LRBA_ENST00000507224.1_Missense_Mutation_p.G734V	p.G734V			P50851	LRBA_HUMAN			18	2674	-	all_hematologic(180;0.151)		734					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.2201G>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730606	0.69074	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.070125	0.56097	D	0.000027	T	0.76905	0.4053	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.934	T	0.71530	-0.4565	10	0.30078	T	0.28	.	20.0714	0.97726	0.0:1.0:0.0:0.0	.	734;734	P50851;P50851-2	LRBA_HUMAN;.	V	734	ENSP00000446299:G734V;ENSP00000421552:G734V;ENSP00000349629:G734V;ENSP00000422180:G734V	ENSP00000349629:G734V	G	-	2	0	LRBA	152013322	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.761000	0.55242	2.750000	0.94351	0.585000	0.79938	GGA		0.308	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			12	395	1	0	0.00010058	1	0.000102273	12	395				
SPECC1	92521	broad.mit.edu	37	17	20156834	20156834	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20156834G>T	ENST00000261503.5	+	10	2666	c.2615G>T	c.(2614-2616)aGc>aTc	p.S872I	SPECC1_ENST00000395530.2_Missense_Mutation_p.S791I|SPECC1_ENST00000536879.1_Missense_Mutation_p.S212I|SPECC1_ENST00000395527.4_Missense_Mutation_p.S872I|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	872					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCGACTTACAGCAGTGTGCGG	0.488																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2371-2373)aGc>aTc		sperm antigen with calponin homology and coiled-coil domains 1							89.0	72.0	78.0					17																	20156834		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20156834G>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2615G>T	17.37:g.20156834G>T	ENSP00000261503:p.Ser872Ile					SPECC1_ENST00000395527.4_Missense_Mutation_p.S872I|SPECC1_ENST00000536879.1_Missense_Mutation_p.S212I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.S872I	p.S791I	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	8	2580	+			872					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2372G>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671723	0.47781	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.57907	0.37;0.37	4.68	2.69	0.31865	.	0.370287	0.29572	N	0.011763	T	0.55641	0.1933	M	0.64997	1.995	0.09310	N	1	P;P;P	0.52061	0.774;0.95;0.88	P;P;P	0.52514	0.498;0.701;0.655	T	0.46133	-0.9213	10	0.45353	T	0.12	-6.4143	7.2694	0.26248	0.201:0.0:0.799:0.0	.	872;791;872	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	I	872;872;212;791	ENSP00000261503:S872I;ENSP00000438294:S212I	ENSP00000261503:S872I	S	+	2	0	SPECC1	20097426	0.227000	0.23707	0.034000	0.17996	0.066000	0.16364	0.452000	0.21795	0.701000	0.31803	0.650000	0.86243	AGC		0.488	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		31	201	1	0	2.09667e-21	1	2.36065e-21	31	201				
PAK6	56924	broad.mit.edu	37	15	40564567	40564567	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40564567G>A	ENST00000542403.2	+	4	1112	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000560346.1_Missense_Mutation_p.R334H|PAK6_ENST00000455577.2_Missense_Mutation_p.R334H|PAK6_ENST00000453867.1_Missense_Mutation_p.R334H|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	334	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGTCCCTCCGCACAGCCCCG	0.692																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1000-1002)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 6							46.0	53.0	51.0					15																	40564567		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564567G>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1001G>A	15.37:g.40564567G>A	ENSP00000439597:p.Arg334His					PAK6_ENST00000560346.1_Missense_Mutation_p.R334H|PAK6_ENST00000542403.2_Missense_Mutation_p.R334H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000453867.1_Missense_Mutation_p.R334H	p.R334H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	1913	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	334			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1001G>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291122	0.23564	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.78;-0.78;-0.83;-0.78;-0.78	3.97	3.97	0.46021	.	0.744197	0.12876	N	0.431845	T	0.58977	0.2160	L	0.29908	0.895	0.34774	D	0.734001	B;B	0.30914	0.199;0.3	B;B	0.25759	0.029;0.063	T	0.66228	-0.5976	10	0.49607	T	0.09	.	6.6628	0.23024	0.0918:0.0:0.7297:0.1785	.	334;334	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	334	ENSP00000406873:R334H;ENSP00000401153:R334H;ENSP00000409465:R334H;ENSP00000260404:R334H;ENSP00000439597:R334H	ENSP00000260404:R334H	R	+	2	0	PAK6	38351859	0.991000	0.36638	0.966000	0.40874	0.324000	0.28378	0.784000	0.26816	2.210000	0.71456	0.555000	0.69702	CGC		0.692	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			31	570	0	0	0	1	0	31	570				
CECR1	51816	broad.mit.edu	37	22	17663567	17663567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17663567C>T	ENST00000399839.1	-	8	1436	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N|CECR1_ENST00000262607.3_Missense_Mutation_p.S389N|CECR1_ENST00000330232.4_Missense_Mutation_p.S148N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	389					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGGTGTTTGCTCAAAGCAAA	0.498																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1165-1167)aGc>aAc		cat eye syndrome chromosome region, candidate 1							172.0	154.0	160.0					22																	17663567		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17663567C>T	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1166G>A	22.37:g.17663567C>T	ENSP00000382733:p.Ser389Asn					CECR1_ENST00000330232.4_Missense_Mutation_p.S148N|CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N|CECR1_ENST00000262607.3_Missense_Mutation_p.S389N	p.S389N			Q9NZK5	CECR1_HUMAN			8	1436	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	389					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.1166G>A	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	1.001	-0.691072	0.03303	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	3.97	-6.59	0.01830	Adenosine/AMP deaminase (1);	0.583494	0.19011	N	0.125077	D	0.88793	0.6533	M	0.61703	1.905	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.74520	-0.3638	10	0.28530	T	0.3	.	6.1549	0.20332	0.3327:0.1248:0.4714:0.0711	.	389;148	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	389;148;389;347;389	ENSP00000382733:S389N;ENSP00000332871:S148N;ENSP00000262607:S389N;ENSP00000406443:S347N;ENSP00000382731:S389N	ENSP00000262607:S389N	S	-	2	0	CECR1	16043567	0.000000	0.05858	0.073000	0.20177	0.072000	0.16883	-1.682000	0.01935	-1.386000	0.02098	-0.424000	0.05967	AGC		0.498	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			112	351	0	0	0	1	0	112	351				
YLPM1	56252	broad.mit.edu	37	14	75284986	75284986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75284986G>A	ENST00000552421.1	+	15	4005	c.3881G>A	c.(3880-3882)cGt>cAt	p.R1294H	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2000H|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H			P49750	YLPM1_HUMAN	YLP motif containing 1	1805					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTAGATATTCGTTCTTTGCTG	0.378																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(5998-6000)cGt>cAt		YLP motif containing 1							128.0	119.0	122.0					14																	75284986		1924	4155	6079	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75284986G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3881G>A	14.37:g.75284986G>A	ENSP00000447921:p.Arg1294His					YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H|YLPM1_ENST00000552421.1_Missense_Mutation_p.R1294H	p.R2000H	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	16	6123	+			1805					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5999G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.136174	0.94517	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.34275	1.37;1.37;1.37	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000010	T	0.53498	0.1800	L	0.39898	1.24	0.80722	D	1	P;D	0.76494	0.786;0.999	P;D	0.75020	0.517;0.985	T	0.53753	-0.8394	10	0.62326	D	0.03	-6.6839	19.2226	0.93803	0.0:0.0:1.0:0.0	.	1805;2000	P49750-3;P49750-4	.;.	H	1294;2000;1765;1713;409	ENSP00000447921:R1294H;ENSP00000324463:R2000H;ENSP00000448367:R409H	ENSP00000238571:R1765H	R	+	2	0	YLPM1	74354739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.548000	0.85928	0.650000	0.86243	CGT		0.378	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		10	43	0	0	0	1	0	10	43				
BTN1A1	696	broad.mit.edu	37	6	26507040	26507040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26507040G>A	ENST00000244513.6	+	4	905	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	280						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGAGAGGAGGAATGAATTC	0.458																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(838-840)aGg>aAg		butyrophilin, subfamily 1, member A1							166.0	168.0	167.0					6																	26507040		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26507040G>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.839G>A	6.37:g.26507040G>A	ENSP00000244513:p.Arg280Lys						p.R280K	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			4	905	+			280					Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.839G>A	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206364	0.01568	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.35605	1.3	5.4	-2.07	0.07276	.	0.466636	0.20153	N	0.098120	T	0.02342	0.0072	N	0.02275	-0.615	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	10	0.02654	T	1	.	5.2949	0.15747	0.4649:0.1578:0.3773:0.0	.	280	Q13410	BT1A1_HUMAN	K	280	ENSP00000244513:R280K	ENSP00000244513:R280K	R	+	2	0	BTN1A1	26615019	0.002000	0.14202	0.008000	0.14137	0.020000	0.10135	0.008000	0.13197	-0.187000	0.10516	-0.290000	0.09829	AGG		0.458	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		171	814	0	0	0	1	0	171	814				
PITPNB	23760	broad.mit.edu	37	22	28269748	28269748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28269748C>T	ENST00000335272.5	-	8	588	c.512G>A	c.(511-513)gGc>gAc	p.G171D	PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	171					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TCCCAAAGGGCCTCTCTTGGT	0.488																																						ENST00000335272.5																			0				large_intestine(4)|lung(3)|skin(1)	8						c.(511-513)gGc>gAc		phosphatidylinositol transfer protein, beta							87.0	74.0	78.0					22																	28269748		2203	4300	6503	SO:0001583	missense	23760				lipid metabolic process|transport	Golgi apparatus	lipid binding	g.chr22:28269748C>T	D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.512G>A	22.37:g.28269748C>T	ENSP00000334738:p.Gly171Asp					PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	p.G171D	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN			8	588	-			171					B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	c.512G>A	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344218	0.82022	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.7	4.68	0.58851	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	H	0.96861	3.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89831	0.3996	10	0.87932	D	0	-30.9357	13.5209	0.61568	0.0:0.9246:0.0:0.0754	.	173;171;171	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	D	171;171;173;98	ENSP00000334738:G171D;ENSP00000321266:G171D;ENSP00000405179:G173D;ENSP00000406542:G98D	ENSP00000321266:G171D	G	-	2	0	PITPNB	26599748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.081000	0.71309	1.410000	0.46936	0.655000	0.94253	GGC		0.488	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1			36	131	0	0	0	1	0	36	131				
TMEM187	8269	broad.mit.edu	37	X	153247784	153247784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153247784G>A	ENST00000369982.4	+	2	1018	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	91						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGTTCGCAGCCATGGCCCT	0.682																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(271-273)Gcc>Acc		transmembrane protein 187							32.0	23.0	26.0					X																	153247784		2200	4298	6498	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153247784G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.271G>A	X.37:g.153247784G>A	ENSP00000358999:p.Ala91Thr						p.A91T	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1018	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		91					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.271G>A	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	6.785	0.513782	0.12944	.	.	ENSG00000177854	ENST00000369982	T	0.23147	1.92	4.27	-1.51	0.08664	.	1.777300	0.04247	U	0.337950	T	0.18467	0.0443	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.17745	-1.0359	10	0.27785	T	0.31	.	0.6656	0.00850	0.4055:0.1278:0.2049:0.2618	.	91	Q14656	TM187_HUMAN	T	91	ENSP00000358999:A91T	ENSP00000358999:A91T	A	+	1	0	TMEM187	152900978	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.160000	0.10041	-0.605000	0.05753	0.436000	0.28706	GCC		0.682	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		43	123	0	0	0	1	0	43	123				
OR52E2	119678	broad.mit.edu	37	11	5079958	5079958	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5079958G>T	ENST00000321522.2	-	1	899	c.900C>A	c.(898-900)atC>atA	p.I300I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACATTTATAGATCTGCTTGG	0.383																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(898-900)atC>atA		olfactory receptor, family 52, subfamily E, member 2							68.0	68.0	68.0					11																	5079958		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5079958G>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.900C>A	11.37:g.5079958G>T							p.I300I	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	899	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	300						Silent	SNP	ENST00000321522.2	37	c.900C>A	CCDS31371.1																																																																																				0.383	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		66	245	1	0	2.60599e-31	1	3.06669e-31	66	245				
CACNA1F	778	broad.mit.edu	37	X	49079532	49079532	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49079532G>T	ENST00000376265.2	-	15	2035	c.1974C>A	c.(1972-1974)tcC>tcA	p.S658S	CACNA1F_ENST00000323022.5_Silent_p.S647S|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000376251.1_Silent_p.S593S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	658					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGCAGCAAGGATGCGATGG	0.522																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(1972-1974)tcC>tcA		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						121.0	85.0	98.0					X																	49079532		2202	4298	6500	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49079532G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1974C>A	X.37:g.49079532G>T						CACNA1F_ENST00000376251.1_Silent_p.S593S|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Silent_p.S647S	p.S658S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			15	2035	-			658					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.1974C>A	CCDS35253.1																																																																																				0.522	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		8	51	1	0	1.12685e-05	1	1.15515e-05	8	51				
FAM107B	83641	broad.mit.edu	37	10	14816459	14816459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14816459G>A	ENST00000181796.2	-	1	437	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCTTCTGCGCTTGGGTGTC	0.582																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(202-204)agC>agT		family with sequence similarity 107, member B							130.0	119.0	123.0					10																	14816459		2203	4300	6503	SO:0001819	synonymous_variant	83641							g.chr10:14816459G>A	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.204C>T	10.37:g.14816459G>A							p.S68S	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			1	437	-			0					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Silent	SNP	ENST00000181796.2	37	c.204C>T	CCDS7102.1																																																																																				0.582	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		171	670	0	0	0	1	0	171	670				
CNPPD1	27013	broad.mit.edu	37	2	220037375	220037375	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220037375G>T	ENST00000409789.1	-	9	1593	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	SLC23A3_ENST00000396775.3_5'Flank|CNPPD1_ENST00000360507.5_Missense_Mutation_p.P389H|SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000295738.7_5'Flank|SLC23A3_ENST00000455516.2_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	389	Pro-rich.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						ACATTGCTGAGGCTGAGGAAG	0.572																																						ENST00000409789.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						c.(1165-1167)cCt>cAt		cyclin Pas1/PHO80 domain containing 1							83.0	83.0	83.0					2																	220037375		2203	4300	6503	SO:0001583	missense	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220037375G>T	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.1166C>A	2.37:g.220037375G>T	ENSP00000386277:p.Pro389His					CNPPD1_ENST00000360507.5_Missense_Mutation_p.P389H	p.P389H			Q9BV87	CNPD1_HUMAN			9	1593	-			389			Pro-rich.		B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	c.1166C>A	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133740	0.37630	.	.	ENSG00000115649	ENST00000360507;ENST00000409789	T;T	0.17054	2.3;2.3	5.04	5.04	0.67666	.	0.414350	0.26136	N	0.026127	T	0.18923	0.0454	L	0.29908	0.895	0.25133	N	0.990553	D	0.63046	0.992	P	0.52710	0.707	T	0.08186	-1.0734	10	0.72032	D	0.01	-3.7987	7.7599	0.28946	0.1401:0.0:0.8599:0.0	.	389	Q9BV87	CNPD1_HUMAN	H	389	ENSP00000353698:P389H;ENSP00000386277:P389H	ENSP00000353698:P389H	P	-	2	0	CNPPD1	219745619	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	3.285000	0.51716	2.609000	0.88269	0.655000	0.94253	CCT		0.572	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		92	418	1	0	5.10314e-47	1	6.27661e-47	92	418				
OR4A5	81318	broad.mit.edu	37	11	51411819	51411819	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411819C>A	ENST00000319760.6	-	1	629	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAGTGAGGCCTATAAAGTAG	0.428																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(577-579)Ggc>Tgc		olfactory receptor, family 4, subfamily A, member 5							60.0	54.0	56.0					11																	51411819		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411819C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.577G>T	11.37:g.51411819C>A	ENSP00000367664:p.Gly193Cys						p.G193C	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	629	-		all_lung(304;0.236)	193					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.577G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.484	0.860521	0.17178	.	.	ENSG00000221840	ENST00000319760	T	0.00130	8.69	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.135995	0.33364	N	0.004990	T	0.00440	0.0014	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.37056	-0.9722	10	0.87932	D	0	.	4.5006	0.11862	0.0:0.804:0.0:0.196	.	193	Q8NH83	OR4A5_HUMAN	C	193	ENSP00000367664:G193C	ENSP00000367664:G193C	G	-	1	0	OR4A5	51268395	0.000000	0.05858	0.140000	0.22221	0.300000	0.27592	0.612000	0.24283	1.394000	0.46624	0.162000	0.16502	GGC		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		34	196	1	0	4.74835e-14	1	5.14536e-14	34	196				
NMUR2	56923	broad.mit.edu	37	5	151771975	151771975	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771975A>C	ENST00000255262.3	-	4	1190	c.1025T>G	c.(1024-1026)aTc>aGc	p.I342S		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	342					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAAGAAGAGATCACATTCTG	0.527																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1024-1026)aTc>aGc		neuromedin U receptor 2							141.0	132.0	135.0					5																	151771975		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151771975A>C	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1025T>G	5.37:g.151771975A>C	ENSP00000255262:p.Ile342Ser						p.I342S	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		4	1190	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	342					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.1025T>G	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	A	8.584	0.883000	0.17467	.	.	ENSG00000132911	ENST00000255262	T	0.39056	1.1	4.79	3.61	0.41365	.	0.209202	0.33005	N	0.005396	T	0.39145	0.1067	L	0.56769	1.78	0.38254	D	0.941691	B	0.17465	0.022	B	0.10450	0.005	T	0.39035	-0.9633	10	0.87932	D	0	-24.3878	10.7901	0.46428	0.8405:0.1595:0.0:0.0	.	342	Q9GZQ4	NMUR2_HUMAN	S	342	ENSP00000255262:I342S	ENSP00000255262:I342S	I	-	2	0	NMUR2	151752168	1.000000	0.71417	0.818000	0.32626	0.118000	0.20060	3.330000	0.52068	0.771000	0.33359	-0.644000	0.03951	ATC		0.527	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		117	470	0	0	0	1	0	117	470				
KSR1	8844	broad.mit.edu	37	17	25909842	25909842	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25909842T>C	ENST00000319524.6	+	4	691	c.691T>C	c.(691-693)Tca>Cca	p.S231P	KSR1_ENST00000268763.6_Missense_Mutation_p.S94P|KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000398988.3_Missense_Mutation_p.S94P			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	231					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCTCCGTGTCAGCTCTGCC	0.706																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(280-282)Tca>Cca		kinase suppressor of ras 1							24.0	30.0	28.0					17																	25909842		2098	4216	6314	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909842T>C	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.691T>C	17.37:g.25909842T>C	ENSP00000323178:p.Ser231Pro					KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000319524.6_Missense_Mutation_p.S231P|KSR1_ENST00000268763.6_Missense_Mutation_p.S94P	p.S94P	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	5	725	+	Lung NSC(42;0.00836)		229					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.280T>C		.	.	.	.	.	.	.	.	.	.	T	13.00	2.106036	0.37145	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00473	7.18;7.18;7.18	5.7	5.7	0.88788	.	0.124970	0.56097	D	0.000026	T	0.00845	0.0028	L	0.46157	1.445	0.41067	D	0.985425	D	0.65815	0.995	P	0.60345	0.873	D	0.87448	0.2399	10	0.26408	T	0.33	.	14.7786	0.69749	0.0:0.0:0.0:1.0	.	229	Q8IVT5	KSR1_HUMAN	P	231;231;94;94	ENSP00000323178:S231P;ENSP00000438795:S231P;ENSP00000268763:S94P	ENSP00000268763:S94P	S	+	1	0	KSR1	22933969	1.000000	0.71417	0.998000	0.56505	0.165000	0.22458	3.373000	0.52394	2.176000	0.68965	0.374000	0.22700	TCA		0.706	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		35	139	0	0	0	1	0	35	139				
RBFA	79863	broad.mit.edu	37	18	77796699	77796699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77796699G>T	ENST00000306735.5	+	2	328	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C	RBFA_ENST00000586847.1_3'UTR|RP11-795F19.5_ENST00000569722.1_Intron|TXNL4A_ENST00000592957.1_5'Flank|TXNL4A_ENST00000585474.1_5'Flank|RBFA_ENST00000262197.7_Missense_Mutation_p.G64C|TXNL4A_ENST00000589926.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	64					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCCTTCCTTGGGTTCTCACTC	0.378																																						ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(190-192)Ggt>Tgt		ribosome binding factor A (putative)							111.0	107.0	108.0					18																	77796699		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77796699G>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.190G>T	18.37:g.77796699G>T	ENSP00000305696:p.Gly64Cys					RBFA_ENST00000262197.7_Missense_Mutation_p.G64C|RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR	p.G64C	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			2	328	+			64					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.190G>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081946	0.36758	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.42513	0.97;0.97	4.04	3.17	0.36434	.	0.115168	0.39083	N	0.001479	T	0.52256	0.1723	L	0.49126	1.545	0.50813	D	0.999899	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.963	T	0.52034	-0.8629	10	0.87932	D	0	-7.0185	6.2172	0.20661	0.2242:0.0:0.7758:0.0	.	64;64	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	C	64	ENSP00000262197:G64C;ENSP00000305696:G64C	ENSP00000262197:G64C	G	+	1	0	RBFA	75897687	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.016000	0.40971	0.909000	0.36697	0.561000	0.74099	GGT		0.378	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		31	148	1	0	2.75727e-19	1	3.0731e-19	31	148				
FLRT2	23768	broad.mit.edu	37	14	86089311	86089311	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86089311C>T	ENST00000330753.4	+	2	2220	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	485	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTTAGAGCCCCGATCCAC	0.522																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1453-1455)Ccc>Tcc		fibronectin leucine rich transmembrane protein 2							147.0	128.0	135.0					14																	86089311		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089311C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1453C>T	14.37:g.86089311C>T	ENSP00000332879:p.Pro485Ser					FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	p.P485S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2220	+			485			Fibronectin type-III.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1453C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544586	0.45280	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.68479	-0.33;-0.33	5.87	5.87	0.94306	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	L	0.55990	1.75	0.80722	D	1	P	0.44139	0.827	B	0.42087	0.375	T	0.71686	-0.4518	10	0.87932	D	0	-27.8567	20.5827	0.99408	0.0:1.0:0.0:0.0	.	485	O43155	FLRT2_HUMAN	S	485;485;138	ENSP00000332879:P485S;ENSP00000451050:P485S	ENSP00000332879:P485S	P	+	1	0	FLRT2	85159064	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	CCC		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			108	548	0	0	0	1	0	108	548				
CACNA1I	8911	broad.mit.edu	37	22	40060864	40060864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060864G>A	ENST00000402142.3	+	21	3787	c.3787G>A	c.(3787-3789)Ggg>Agg	p.G1263R	CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1263R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G1269R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1228R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1263					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCTCAGCCGGGGGAGCCAA	0.647																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3805-3807)Ggg>Agg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						54.0	62.0	60.0					22																	40060864		2071	4190	6261	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060864G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3787G>A	22.37:g.40060864G>A	ENSP00000385019:p.Gly1263Arg					CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1263R|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G1263R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1228R|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1228R	p.G1269R			Q9P0X4	CAC1I_HUMAN			24	3805	+	Melanoma(58;0.0749)		1263					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3805G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305576	0.60305	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.80028	2.48	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.976;1.0;0.995;0.999	D	0.99782	1.1028	10	0.62326	D	0.03	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1228;1263;1228;1263	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	R	1263;1228;1263;1228;1269;1228	ENSP00000385019:G1263R;ENSP00000384093:G1228R;ENSP00000383887:G1263R;ENSP00000385680:G1228R;ENSP00000337829:G1269R;ENSP00000383028:G1228R	ENSP00000337829:G1269R	G	+	1	0	CACNA1I	38390810	1.000000	0.71417	0.893000	0.35052	0.086000	0.17979	6.706000	0.74649	1.950000	0.56595	0.462000	0.41574	GGG		0.647	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		26	279	0	0	0	1	0	26	279				
PHLDB1	23187	broad.mit.edu	37	11	118530097	118530097	+	IGR	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118530097G>A	ENST00000361417.2	+	0	5753				TREH_ENST00000529101.1_Nonsense_Mutation_p.Q472*|TREH_ENST00000264029.4_Nonsense_Mutation_p.Q472*|TREH_ENST00000397925.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000530256.1_Nonsense_Mutation_p.Q349*|TREH_ENST00000525958.1_Nonsense_Mutation_p.Q441*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCAGGTCCTGCAGGGGGGCC	0.612											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529101.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1414-1416)Cag>Tag		trehalase (brush-border membrane glycoprotein)																																				SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118530097G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118530097G>A			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_ENST00000397925.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000530256.1_Nonsense_Mutation_p.Q349*|TREH_ENST00000525958.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000264029.4_Nonsense_Mutation_p.Q472*	p.Q472*			O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	12	1459	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	472					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	c.1414C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	39	7.566916	0.98361	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	.	.	.	5.82	5.82	0.92795	.	0.060400	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-31.9767	18.8769	0.92341	0.0:0.0:1.0:0.0	.	.	.	.	X	472;349;472;349;441;441	.	ENSP00000264029:Q472X	Q	-	1	0	TREH	118035307	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.583000	0.74053	2.757000	0.94681	0.655000	0.94253	CAG		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		6	77	0	0	0	1	0	6	77				
CEP135	9662	broad.mit.edu	37	4	56846364	56846364	+	Missense_Mutation	SNP	G	G	A	rs376581153		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56846364G>A	ENST00000257287.4	+	12	1653	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	510					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAACTTCAGCGTATGCTAGAA	0.289																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(1528-1530)cGt>cAt		centrosomal protein 135kDa		G	HIS/ARG	1,4405		0,1,2202	81.0	84.0	83.0		1529	-1.2	0.0	4		83	0,8596		0,0,4298	no	missense	CEP135	NM_025009.3	29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	510/1141	56846364	1,13001	2203	4298	6501	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56846364G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1529G>A	4.37:g.56846364G>A	ENSP00000257287:p.Arg510His						p.R510H	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			12	1653	+	Glioma(25;0.08)|all_neural(26;0.101)		510					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1529G>A	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	6.379	0.437961	0.12104	2.27E-4	0.0	ENSG00000174799	ENST00000257287	T	0.44881	0.91	5.87	-1.2	0.09554	.	0.926115	0.09460	N	0.799163	T	0.30386	0.0763	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26224	-1.0109	10	0.41790	T	0.15	.	8.4725	0.32993	0.5889:0.1833:0.2278:0.0	.	510	Q66GS9	CP135_HUMAN	H	510	ENSP00000257287:R510H	ENSP00000257287:R510H	R	+	2	0	CEP135	56541121	0.003000	0.15002	0.031000	0.17742	0.916000	0.54674	0.133000	0.15912	-0.254000	0.09500	-0.137000	0.14449	CGT		0.289	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		61	282	0	0	0	1	0	61	282				
RAB9BP1	9366	broad.mit.edu	37	5	104435608	104435608	+	lincRNA	SNP	C	C	T	rs113231648	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:104435608C>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GGGACGGCAGCGACTATCCTT	0.458													C|||	51	0.0101837	0.0386	0.0	5008	,	,		19588	0.0		0.0	False		,,,				2504	0.0					ENST00000522464.1																			0																																																			0							g.chr5:104435608C>T																													5.37:g.104435608C>T						RP11-6N13.1_ENST00000503650.1_lincRNA								0	68	-									RNA	SNP	ENST00000522464.1	37																																																																																						0.458	CTD-2374C24.1-002	PUTATIVE	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000374820.1			49	217	0	0	0	1	0	49	217				
RBM4B	83759	broad.mit.edu	37	11	66436255	66436255	+	Missense_Mutation	SNP	C	C	T	rs149014922	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66436255C>T	ENST00000525754.1	-	2	1588	c.920G>A	c.(919-921)cGt>cAt	p.R307H	RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H|RBM4B_ENST00000529195.2_5'UTR|RP11-658F2.8_ENST00000548810.1_RNA|RP11-658F2.8_ENST00000550837.1_RNA|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	307	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCAGCACGACGCAGTGGGCT	0.567													C|||	4	0.000798722	0.0008	0.0043	5008	,	,		18986	0.0		0.0	False		,,,				2504	0.0					ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(919-921)cGt>cAt		RNA binding motif protein 4B							58.0	56.0	57.0					11																	66436255		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436255C>T	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.920G>A	11.37:g.66436255C>T	ENSP00000433071:p.Arg307His					RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H|RBM4B_ENST00000529195.2_5'UTR	p.R307H			Q9BQ04	RBM4B_HUMAN			2	1588	-			307			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.920G>A	CCDS8149.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.82	3.704686	0.68615	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.30981	1.51;1.51	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	M	0.69823	2.125	0.80722	D	1	B	0.27068	0.167	B	0.17098	0.017	T	0.07712	-1.0758	10	0.41790	T	0.15	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	307	Q9BQ04	RBM4B_HUMAN	H	307	ENSP00000433071:R307H;ENSP00000310471:R307H	ENSP00000310471:R307H	R	-	2	0	RBM4B	66192831	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.789000	0.55454	2.937000	0.99478	0.650000	0.86243	CGT		0.567	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		60	343	0	0	0	1	0	60	343				
DSCAM	1826	broad.mit.edu	37	21	41710129	41710129	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41710129A>C	ENST00000400454.1	-	8	2159	c.1682T>G	c.(1681-1683)cTt>cGt	p.L561R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	561	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACATCTGAAAGTTTAAGAGT	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1681-1683)cTt>cGt		Down syndrome cell adhesion molecule							166.0	156.0	159.0					21																	41710129		1964	4157	6121	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710129A>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1682T>G	21.37:g.41710129A>C	ENSP00000383303:p.Leu561Arg						p.L561R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	2159	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	561			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1682T>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796638	0.70567	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69806	-0.43;-0.43	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88903	0.3354	10	0.87932	D	0	.	16.0742	0.80958	1.0:0.0:0.0:0.0	.	561	O60469	DSCAM_HUMAN	R	561;313	ENSP00000383303:L561R;ENSP00000385342:L313R	ENSP00000383303:L561R	L	-	2	0	DSCAM	40631999	1.000000	0.71417	0.999000	0.59377	0.631000	0.37964	9.133000	0.94460	2.198000	0.70561	0.533000	0.62120	CTT		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		88	392	0	0	0	1	0	88	392				
BARD1	580	broad.mit.edu	37	2	215610503	215610503	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215610503G>T	ENST00000260947.4	-	8	1887	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	585	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTCACTGAGCATTTTCTGT	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1753-1755)Ctc>Atc		BRCA1 associated RING domain 1							165.0	165.0	165.0					2																	215610503		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215610503G>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1753C>A	2.37:g.215610503G>T	ENSP00000260947:p.Leu585Ile					BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	p.L585I	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	8	1887	-		Renal(323;0.0243)	585			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1753C>A	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418594	0.62622	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	D;D;D	0.83075	-1.68;-1.68;-1.68	5.2	5.2	0.72013	BRCT (4);	0.000000	0.64402	D	0.000002	D	0.87597	0.6217	L	0.39397	1.21	0.47949	D	0.99955	D;P	0.61697	0.99;0.953	D;D	0.71870	0.975;0.958	D	0.86382	0.1730	10	0.38643	T	0.18	-5.8897	19.0931	0.93235	0.0:0.0:1.0:0.0	.	441;585	E7EUI3;Q99728	.;BARD1_HUMAN	I	585;441;134	ENSP00000260947:L585I;ENSP00000406752:L441I;ENSP00000392245:L134I	ENSP00000260947:L585I	L	-	1	0	BARD1	215318748	1.000000	0.71417	0.997000	0.53966	0.419000	0.31324	6.474000	0.73578	2.576000	0.86940	0.561000	0.74099	CTC		0.403	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		141	703	1	0	6.6411e-63	1	8.37479e-63	141	703				
SERPINI2	5276	broad.mit.edu	37	3	167159914	167159914	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167159914C>A	ENST00000476257.1	-	10	1499	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y|SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	401					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAATCTAAATCTCTTCCTTTT	0.323																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1201-1203)Gat>Tat		serpin peptidase inhibitor, clade I (pancpin), member 2							131.0	120.0	124.0					3																	167159914		2203	4299	6502	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167159914C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1201G>T	3.37:g.167159914C>A	ENSP00000420621:p.Asp401Tyr					SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y|SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y	p.D401Y			O75830	SPI2_HUMAN			10	1499	-			401						Missense_Mutation	SNP	ENST00000476257.1	37	c.1201G>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121718	0.77436	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	6.07	6.07	0.98685	.	0.102307	0.64402	D	0.000004	D	0.90648	0.7067	L	0.54323	1.7	0.45239	D	0.998244	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90775	0.4675	10	0.87932	D	0	.	16.1594	0.81686	0.0:1.0:0.0:0.0	.	401;401	B4DDY9;O75830	.;SPI2_HUMAN	Y	401	ENSP00000420621:D401Y;ENSP00000417692:D401Y;ENSP00000264677:D401Y;ENSP00000419407:D401Y	ENSP00000264677:D401Y	D	-	1	0	SERPINI2	168642608	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.130000	0.57964	2.885000	0.99019	0.655000	0.94253	GAT		0.323	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		11	97	1	0	2.27111e-07	1	2.35674e-07	11	97				
FERMT1	55612	broad.mit.edu	37	20	6077578	6077578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6077578G>A	ENST00000217289.4	-	8	1848	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	FERMT1_ENST00000536936.1_Silent_p.L97L|FERMT1_ENST00000478194.1_5'Flank	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	354	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCACCTTCTAGGGTTACTTCC	0.423																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1060-1062)Cta>Tta		fermitin family member 1							142.0	158.0	153.0					20																	6077578		2203	4300	6503	SO:0001819	synonymous_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6077578G>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1060C>T	20.37:g.6077578G>A						FERMT1_ENST00000536936.1_Silent_p.L97L	p.L354L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			8	1848	-			354			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	ENST00000217289.4	37	c.1060C>T	CCDS13098.1																																																																																				0.423	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		214	878	0	0	0	1	0	214	878				
EHD3	30845	broad.mit.edu	37	2	31484505	31484505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31484505G>A	ENST00000322054.5	+	5	1291	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	336					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAACAACCTGGCCGAGATCTA	0.562																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1006-1008)Gcc>Acc		EH-domain containing 3							140.0	131.0	134.0					2																	31484505		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484505G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1006G>A	2.37:g.31484505G>A	ENSP00000327116:p.Ala336Thr					EHD3_ENST00000541626.1_Intron	p.A336T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1291	+	Acute lymphoblastic leukemia(172;0.155)		336					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1006G>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784436	0.31593	.	.	ENSG00000013016	ENST00000322054	T	0.17213	2.29	6.04	6.04	0.98038	.	0.090843	0.85682	D	0.000000	T	0.09423	0.0232	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.22109	T	0.4	-6.2235	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	336	Q9NZN3	EHD3_HUMAN	T	336	ENSP00000327116:A336T	ENSP00000327116:A336T	A	+	1	0	EHD3	31338009	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	6.685000	0.74543	2.873000	0.98535	0.561000	0.74099	GCC		0.562	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		149	478	0	0	0	1	0	149	478				
CTNNAL1	8727	broad.mit.edu	37	9	111706086	111706086	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111706086T>C	ENST00000325551.4	-	17	2038	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.D651G|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	651					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAGCTTGTCATCGTCTTTCAG	0.353																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1951-1953)gAt>gGt		catenin (cadherin-associated protein), alpha-like 1							133.0	132.0	132.0					9																	111706086		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111706086T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1952A>G	9.37:g.111706086T>C	ENSP00000320434:p.Asp651Gly					FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.D651G	p.D651G			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	17	2031	-			651					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1952A>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608757	0.46527	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.54	5.54	0.83059	.	0.144107	0.64402	D	0.000007	T	0.65995	0.2745	M	0.64997	1.995	0.26154	N	0.980095	D;D;B;D	0.89917	1.0;0.961;0.002;0.961	D;P;B;P	0.87578	0.998;0.721;0.009;0.721	T	0.58808	-0.7571	10	0.11485	T	0.65	-21.7967	13.6804	0.62481	0.0:0.0:0.0:1.0	.	567;651;651;651	Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	G	651;651;567;52	ENSP00000363723:D651G;ENSP00000320434:D651G;ENSP00000323351:D567G;ENSP00000363722:D52G	ENSP00000320434:D651G	D	-	2	0	CTNNAL1	110745907	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	GAT		0.353	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		57	320	0	0	0	1	0	57	320				
NPHP4	261734	broad.mit.edu	37	1	5924003	5924003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5924003G>T	ENST00000378156.4	-	29	4352	c.4087C>A	c.(4087-4089)Cac>Aac	p.H1363N	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1363					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGCAGGTGGAATGTCCTC	0.632																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(4087-4089)Cac>Aac		nephronophthisis 4							82.0	96.0	92.0					1																	5924003		2003	4167	6170	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5924003G>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4087C>A	1.37:g.5924003G>T	ENSP00000367398:p.His1363Asn					NPHP4_ENST00000478423.2_5'UTR	p.H1363N	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	29	4352	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1363					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.4087C>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303324	0.10678	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.3	2.39	0.29439	.	0.749504	0.12359	N	0.475857	T	0.79076	0.4385	L	0.45581	1.43	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.62034	-0.6939	10	0.23891	T	0.37	.	3.0777	0.06252	0.3113:0.0:0.5017:0.187	.	1363	O75161	NPHP4_HUMAN	N	1363	ENSP00000367398:H1363N	ENSP00000367398:H1363N	H	-	1	0	NPHP4	5846590	1.000000	0.71417	0.013000	0.15412	0.386000	0.30323	2.329000	0.43876	0.607000	0.29982	-0.119000	0.15052	CAC		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			26	143	1	0	4.26978e-12	1	4.57227e-12	26	143				
AKR7A2	8574	broad.mit.edu	37	1	19633502	19633502	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19633502C>A	ENST00000235835.3	-	5	803	c.782G>T	c.(781-783)aGg>aTg	p.R261M	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	261					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCGATTCCTGTAGGTCTC	0.582																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(781-783)aGg>aTg		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							84.0	91.0	88.0					1																	19633502		2203	4300	6503	SO:0001583	missense	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19633502C>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.782G>T	1.37:g.19633502C>A	ENSP00000235835:p.Arg261Met						p.R261M	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	803	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	261					O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	c.782G>T	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275329	0.59649	.	.	ENSG00000053371	ENST00000235835;ENST00000330072	T;T	0.04234	3.67;3.67	5.17	4.2	0.49525	NADP-dependent oxidoreductase domain (3);	0.048149	0.85682	D	0.000000	T	0.11537	0.0281	M	0.74881	2.28	0.46678	D	0.999159	B	0.28128	0.201	B	0.37387	0.248	T	0.02320	-1.1177	10	0.62326	D	0.03	.	14.3693	0.66828	0.1478:0.8522:0.0:0.0	.	261	O43488	ARK72_HUMAN	M	261;216	ENSP00000235835:R261M;ENSP00000339084:R216M	ENSP00000235835:R261M	R	-	2	0	AKR7A2	19506089	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.489000	0.53237	2.553000	0.86117	0.655000	0.94253	AGG		0.582	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		68	523	1	0	1.64915e-30	1	1.93527e-30	68	523				
NBPF3	84224	broad.mit.edu	37	1	21797189	21797189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21797189G>A	ENST00000318249.5	+	4	758	c.408G>A	c.(406-408)gaG>gaA	p.E136E	NBPF3_ENST00000318220.6_Silent_p.E80E|NBPF3_ENST00000342104.5_Silent_p.E136E|NBPF3_ENST00000454000.2_Silent_p.E66E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	136						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCACAGAAGAGAAGCTTGCAG	0.542																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(238-240)gaG>gaA		neuroblastoma breakpoint family, member 3							46.0	51.0	49.0					1																	21797189		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21797189G>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.408G>A	1.37:g.21797189G>A						NBPF3_ENST00000454000.2_Silent_p.E66E|NBPF3_ENST00000342104.5_Silent_p.E136E|NBPF3_ENST00000318249.5_Silent_p.E136E	p.E80E			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	7	1288	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	136					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.240G>A	CCDS216.1																																																																																				0.542	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		39	385	0	0	0	1	0	39	385				
NOTCH2	4853	broad.mit.edu	37	1	120458178	120458178	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120458178C>T	ENST00000256646.2	-	34	7386	c.7167G>A	c.(7165-7167)caG>caA	p.Q2389Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2389					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAACTGTGCTGTGAAGGGG	0.582			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(7165-7167)caG>caA		notch 2							118.0	105.0	109.0					1																	120458178		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458178C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7167G>A	1.37:g.120458178C>T							p.Q2389Q	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	7386	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2389					Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.7167G>A	CCDS908.1																																																																																				0.582	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		57	393	0	0	0	1	0	57	393				
SPTA1	6708	broad.mit.edu	37	1	158617374	158617374	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158617374C>T	ENST00000368147.4	-	27	4031	c.3851G>A	c.(3850-3852)aGc>aAc	p.S1284N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1284					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATTTAGGCTCTCCTTACG	0.547																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3850-3852)aGc>aAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							133.0	134.0	134.0					1																	158617374		1982	4142	6124	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158617374C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3851G>A	1.37:g.158617374C>T	ENSP00000357129:p.Ser1284Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.S1284N	p.S1284N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			27	4031	-	all_hematologic(112;0.0378)		1284					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3851G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691624	0.15039	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	4.43	-0.0524	0.13822	.	.	.	.	.	T	0.10594	0.0259	N	0.20766	0.605	0.26862	N	0.967922	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	9	0.17832	T	0.49	.	7.9629	0.30081	0.0:0.3016:0.0:0.6984	.	1284	P02549	SPTA1_HUMAN	N	1284	ENSP00000357130:S1284N;ENSP00000357129:S1284N	ENSP00000357129:S1284N	S	-	2	0	SPTA1	156883998	1.000000	0.71417	0.059000	0.19551	0.247000	0.25773	1.080000	0.30779	-0.089000	0.12484	-0.244000	0.11960	AGC		0.547	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		79	560	0	0	0	1	0	79	560				
DNAH6	1768	broad.mit.edu	37	2	84811312	84811312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811312C>T	ENST00000237449.6	+	14	2427	c.2419C>T	c.(2419-2421)Cat>Tat	p.H807Y	DNAH6_ENST00000398278.2_Missense_Mutation_p.H807Y|DNAH6_ENST00000389394.3_Missense_Mutation_p.H807Y			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	807	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTTGTGTGCATTTGGGTAG	0.348																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(2419-2421)Cat>Tat		dynein, axonemal, heavy chain 6							153.0	143.0	146.0					2																	84811312		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811312C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2419C>T	2.37:g.84811312C>T	ENSP00000237449:p.His807Tyr					DNAH6_ENST00000398278.2_Missense_Mutation_p.H807Y|DNAH6_ENST00000237449.6_Missense_Mutation_p.H807Y	p.H807Y	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			15	2556	+			807			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.2419C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956263	0.18507	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24538	1.85;1.97;1.85	5.73	4.85	0.62838	.	0.000000	0.45126	D	0.000385	T	0.28599	0.0708	M	0.65975	2.015	0.26056	N	0.98142	B;B	0.26902	0.163;0.138	B;B	0.30716	0.119;0.037	T	0.21381	-1.0247	10	0.59425	D	0.04	.	9.391	0.38372	0.0:0.8412:0.0:0.1588	.	807;386	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	Y	807	ENSP00000374045:H807Y;ENSP00000381326:H807Y;ENSP00000237449:H807Y	ENSP00000237449:H807Y	H	+	1	0	DNAH6	84664823	0.990000	0.36364	0.953000	0.39169	0.008000	0.06430	2.566000	0.45948	2.700000	0.92200	0.591000	0.81541	CAT		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		101	385	0	0	0	1	0	101	385				
NTNG2	84628	broad.mit.edu	37	9	135073735	135073735	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073735A>G	ENST00000393229.3	+	3	1372	c.596A>G	c.(595-597)tAc>tGc	p.Y199C	NTNG2_ENST00000393228.4_Missense_Mutation_p.Y199C|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000372179.3_Missense_Mutation_p.Y199C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	199	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCGAGGAGTACTCGCGCTGG	0.667																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(595-597)tAc>tGc		netrin G2							38.0	31.0	34.0					9																	135073735		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073735A>G	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.596A>G	9.37:g.135073735A>G	ENSP00000376921:p.Tyr199Cys					NTNG2_ENST00000393228.4_Missense_Mutation_p.Y199C|NTNG2_ENST00000372179.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y199C	p.Y199C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1372	+			199			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.596A>G	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493026	0.84962	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91811	0.7409	M	0.87097	2.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93209	0.6598	10	0.87932	D	0	.	14.2827	0.66224	1.0:0.0:0.0:0.0	.	199	Q96CW9	NTNG2_HUMAN	C	199	ENSP00000376921:Y199C;ENSP00000376920:Y199C;ENSP00000353888:Y199C;ENSP00000361252:Y199C	ENSP00000353888:Y199C	Y	+	2	0	NTNG2	134063556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.957000	0.56846	0.459000	0.35465	TAC		0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		6	242	0	0	0	1	0	6	242				
SMC3	9126	broad.mit.edu	37	10	112328724	112328724	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112328724G>T	ENST00000361804.4	+	2	170	c.44G>T	c.(43-45)aGa>aTa	p.R15I	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	15					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CGAAGTTACAGAGATCAAACA	0.313																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(43-45)aGa>aTa		structural maintenance of chromosomes 3							165.0	163.0	164.0					10																	112328724		2203	4298	6501	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112328724G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.44G>T	10.37:g.112328724G>T	ENSP00000354720:p.Arg15Ile					SMC3_ENST00000462899.1_3'UTR	p.R15I	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	2	170	+		Breast(234;0.0848)|Lung NSC(174;0.238)	15					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.44G>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	32	5.193181	0.94960	.	.	ENSG00000108055	ENST00000361804	D	0.90504	-2.68	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95962	0.8685	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95983	0.8979	10	0.56958	D	0.05	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	15	Q9UQE7	SMC3_HUMAN	I	15	ENSP00000354720:R15I	ENSP00000354720:R15I	R	+	2	0	SMC3	112318714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.587000	0.87381	0.563000	0.77884	AGA		0.313	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		47	266	1	0	4.1673e-28	1	4.84001e-28	47	266				
TMPO	7112	broad.mit.edu	37	12	98926730	98926730	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98926730C>A	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Missense_Mutation_p.P232H|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCCGTCCTCCTTTGGGCAGT	0.478																																						ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(694-696)cCt>cAt		thymopoietin							78.0	83.0	81.0					12																	98926730		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98926730C>A		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1114C>A	12.37:g.98926730C>A						TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron	p.P232H	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	933	+			0			NAKAP95-binding N.|Nucleoplasmic (Potential).		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.695C>A	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258862	0.59321	.	.	ENSG00000120802	ENST00000266732	T	0.49720	0.77	5.26	5.26	0.73747	.	0.249768	0.32736	N	0.005713	T	0.55305	0.1912	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59600	-0.7424	10	0.87932	D	0	.	14.725	0.69339	0.0:1.0:0.0:0.0	.	232	P42166	LAP2A_HUMAN	H	232	ENSP00000266732:P232H	ENSP00000266732:P232H	P	+	2	0	TMPO	97450861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.505000	0.53356	2.612000	0.88384	0.650000	0.86243	CCT		0.478	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		13	567	1	0	1.3612e-06	1	1.40558e-06	13	567				
FITM2	128486	broad.mit.edu	37	20	42935305	42935305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935305C>A	ENST00000396825.3	-	2	769	c.749G>T	c.(748-750)aGc>aTc	p.S250I		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	250					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						CAAACTACAGCTCTGGGGAGG	0.423																																						ENST00000396825.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(748-750)aGc>aTc		fat storage-inducing transmembrane protein 2							58.0	64.0	62.0					20																	42935305		2203	4300	6503	SO:0001583	missense	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935305C>A	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.749G>T	20.37:g.42935305C>A	ENSP00000380037:p.Ser250Ile						p.S250I	NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN			2	769	-			250					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	37	c.749G>T	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748150	0.15710	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.76	3.81	0.43845	.	0.338611	0.37530	N	0.002041	T	0.38878	0.1057	L	0.34521	1.04	0.34742	D	0.730827	B	0.23316	0.083	B	0.15870	0.014	T	0.46119	-0.9214	9	0.59425	D	0.04	.	8.5745	0.33590	0.0:0.7255:0.1277:0.1468	.	250	Q8N6M3	FITM2_HUMAN	I	250	.	ENSP00000380037:S250I	S	-	2	0	FITM2	42368719	0.462000	0.25791	0.864000	0.33941	0.123000	0.20343	0.806000	0.27126	0.760000	0.33108	-0.150000	0.13652	AGC		0.423	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		64	361	1	0	1.40369e-38	1	1.69297e-38	64	361				
KCNJ2	3759	broad.mit.edu	37	17	68171388	68171388	+	Missense_Mutation	SNP	G	G	A	rs375605948		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68171388G>A	ENST00000243457.3	+	2	591	c.208G>A	c.(208-210)Gca>Aca	p.A70T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	70					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGGTACCTCGCAGACATCTT	0.522																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(208-210)Gca>Aca		potassium inwardly-rectifying channel, subfamily J, member 2							216.0	156.0	176.0					17																	68171388		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171388G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.208G>A	17.37:g.68171388G>A	ENSP00000243457:p.Ala70Thr					KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	p.A70T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	591	+	Breast(10;1.64e-08)		70					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.208G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004413	0.19199	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93953	-3.32;-3.32	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.048397	0.85682	D	0.000000	D	0.88934	0.6572	L	0.35487	1.065	0.53005	D	0.999968	B	0.25743	0.133	B	0.26416	0.069	D	0.84807	0.0788	9	.	.	.	.	14.5682	0.68194	0.0:0.0:0.8539:0.1461	.	70	P63252	IRK2_HUMAN	T	70	ENSP00000441848:A70T;ENSP00000243457:A70T	.	A	+	1	0	KCNJ2	65682983	1.000000	0.71417	0.944000	0.38274	0.766000	0.43426	7.871000	0.87180	2.662000	0.90505	0.555000	0.69702	GCA		0.522	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		86	375	0	0	0	1	0	86	375				
BAALC	79870	broad.mit.edu	37	8	104225273	104225273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104225273G>A	ENST00000297574.6	+	3	531	c.392G>A	c.(391-393)gGc>gAc	p.G131D	RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000309982.5_Missense_Mutation_p.G96D|RP11-318M2.2_ENST00000523614.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	131						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTCAGCTCAGGCCCTCTGACC	0.567																																						ENST00000309982.5																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(286-288)gGc>gAc		brain and acute leukemia, cytoplasmic							113.0	106.0	108.0					8																	104225273		2203	4300	6503	SO:0001583	missense	79870					centrosome|membrane|nucleus		g.chr8:104225273G>A	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.392G>A	8.37:g.104225273G>A	ENSP00000297574:p.Gly131Asp					RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000297574.6_Missense_Mutation_p.G131D|RP11-318M2.2_ENST00000523614.2_RNA	p.G96D	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)		2	475	+			131					Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37	c.287G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.225051	0.79576	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.56275	0.59;0.47	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.976;0.981	T	0.75777	-0.3198	9	0.87932	D	0	-15.2011	14.6078	0.68493	0.0:0.0:1.0:0.0	.	131;96	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	D	96;131	ENSP00000312457:G96D;ENSP00000297574:G131D	ENSP00000297574:G131D	G	+	2	0	BAALC	104294449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.291000	0.51764	2.578000	0.87016	0.655000	0.94253	GGC		0.567	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1			111	466	0	0	0	1	0	111	466				
TNR	7143	broad.mit.edu	37	1	175328762	175328762	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175328762A>C	ENST00000367674.2	-	15	3668	c.2960T>G	c.(2959-2961)cTt>cGt	p.L987R	TNR_ENST00000263525.2_Missense_Mutation_p.L987R			Q92752	TENR_HUMAN	tenascin R	987	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAAGTGTGTAAGAACAATGAC	0.507																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(2959-2961)cTt>cGt		tenascin R							131.0	114.0	120.0					1																	175328762		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175328762A>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2960T>G	1.37:g.175328762A>C	ENSP00000356646:p.Leu987Arg					TNR_ENST00000263525.2_Missense_Mutation_p.L987R	p.L987R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			15	3668	-	Renal(580;0.146)		987			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2960T>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496836	0.85069	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58358	0.34;0.34	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.150990	0.45361	D	0.000370	T	0.63546	0.2520	M	0.63428	1.95	0.58432	D	0.999997	P	0.45569	0.861	P	0.51918	0.684	T	0.66976	-0.5787	10	0.72032	D	0.01	.	15.6349	0.76944	1.0:0.0:0.0:0.0	.	987	Q92752	TENR_HUMAN	R	987;987;897	ENSP00000356646:L987R;ENSP00000263525:L987R	ENSP00000263525:L987R	L	-	2	0	TNR	173595385	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	8.606000	0.90888	2.159000	0.67721	0.533000	0.62120	CTT		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		10	380	0	0	0	1	0	10	380				
RPUSD4	84881	broad.mit.edu	37	11	126079531	126079531	+	Silent	SNP	G	G	A	rs577525831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126079531G>A	ENST00000298317.4	-	3	495	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	FAM118B_ENST00000529731.1_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.L148L|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000533050.1_5'Flank|RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000360194.4_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	148					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGTGGCACAGATGCAAGGGC	0.522																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(442-444)Ctg>Ttg		RNA pseudouridylate synthase domain containing 4							237.0	220.0	226.0					11																	126079531		2201	4299	6500	SO:0001819	synonymous_variant	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126079531G>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.442C>T	11.37:g.126079531G>A						RPUSD4_ENST00000533628.1_Silent_p.L148L|RPUSD4_ENST00000534393.1_5'UTR	p.L148L	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	3	495	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	148					E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	c.442C>T	CCDS8469.1																																																																																				0.522	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		198	1007	0	0	0	1	0	198	1007				
FAM74A7	100996582	broad.mit.edu	37	9	40716167	40716167	+	lincRNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:40716167C>T	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							ATGGAGAGAGCTCAAAGGCTG	0.488																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10															19.0	21.0	20.0					9																	40716167		1659	3419	5078			0							g.chr9:40716167C>T																													9.37:g.40716167C>T								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	506	+									RNA	SNP	ENST00000432614.1	37																																																																																						0.488	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			34	334	0	0	0	1	0	34	334				
SPINK5	11005	broad.mit.edu	37	5	147493998	147493998	+	Missense_Mutation	SNP	G	G	A	rs182767534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147493998G>A	ENST00000256084.7	+	21	2003	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H|SPINK5_ENST00000359874.3_Missense_Mutation_p.R654H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	654	Kazal-like 10. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTGCGTGGCCCAGAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17259	0.001		0.0	False		,,,				2504	0.0					ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1960-1962)cGt>cAt		serine peptidase inhibitor, Kazal type 5							81.0	79.0	79.0					5																	147493998		1912	4137	6049	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147493998G>A	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1961G>A	5.37:g.147493998G>A	ENSP00000256084:p.Arg654His					SPINK5_ENST00000256084.7_Missense_Mutation_p.R654H|SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H	p.R654H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	2034	+			654			Kazal-like 10.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1961G>A	CCDS43382.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.1	4.102952	0.76983	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.42	4.54	0.55810	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.304457	0.26450	N	0.024303	T	0.17280	0.0415	M	0.69823	2.125	0.28078	N	0.932309	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.01001	-1.1485	10	0.59425	D	0.04	-22.2517	9.4175	0.38530	0.0952:0.0:0.9048:0.0	.	635;654;654;654	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	654;654;635;654	ENSP00000381472:R654H;ENSP00000352936:R654H;ENSP00000421519:R635H;ENSP00000256084:R654H	ENSP00000256084:R654H	R	+	2	0	SPINK5	147474191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.543000	0.36147	2.703000	0.92315	0.655000	0.94253	CGT		0.453	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		50	214	0	0	0	1	0	50	214				
FAM214A	56204	broad.mit.edu	37	15	52902196	52902196	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52902196G>A	ENST00000261844.7	-	6	1067	c.915C>T	c.(913-915)ggC>ggT	p.G305G	FAM214A_ENST00000546305.2_Silent_p.G312G	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	305																	CAGATTTACTGCCAGTGCCTG	0.393																																						ENST00000261844.7																			0											c.(913-915)ggC>ggT		family with sequence similarity 214, member A							61.0	52.0	55.0					15																	52902196		1847	4090	5937	SO:0001819	synonymous_variant	56204							g.chr15:52902196G>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.915C>T	15.37:g.52902196G>A						FAM214A_ENST00000546305.2_Silent_p.G312G	p.G305G	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1067	-			305					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.915C>T	CCDS45263.1																																																																																				0.393	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		13	102	0	0	0	1	0	13	102				
NOL6	65083	broad.mit.edu	37	9	33463341	33463341	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33463341G>T	ENST00000455041.2	-	23	2996	c.2937C>A	c.(2935-2937)gcC>gcA	p.A979A	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1031					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGCAGAAGGAGGCAGCTGGCG	0.647																																						ENST00000455041.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2935-2937)gcC>gcA		nucleolar protein 6 (RNA-associated)							33.0	35.0	35.0					9																	33463341		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33463341G>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.2937C>A	9.37:g.33463341G>T						NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron	p.A979A			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	23	2996	-			1031					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000455041.2	37	c.2937C>A																																																																																					0.647	NOL6-201	KNOWN	basic	protein_coding	protein_coding		NM_022917		6	203	1	0	3.59834e-05	1	3.67436e-05	6	203				
BTNL3	10917	broad.mit.edu	37	5	180424256	180424256	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424256C>T	ENST00000342868.6	+	3	625	c.441C>T	c.(439-441)gaC>gaT	p.D147D		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	147	Ig-like V-type.					integral component of membrane (GO:0016021)		p.D147E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GATATGTTGACGGAGGTATCC	0.498																																						ENST00000342868.6																			1	Substitution - Missense(1)	p.D147E(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(439-441)gaC>gaT		butyrophilin-like 3							139.0	121.0	127.0					5																	180424256		2133	3964	6097	SO:0001819	synonymous_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180424256C>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.441C>T	5.37:g.180424256C>T							p.D147D	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	625	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	147			Ig-like V-type.		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.441C>T	CCDS47358.1																																																																																				0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		24	706	0	0	0	1	0	24	706				
ITGAL	3683	broad.mit.edu	37	16	30518143	30518143	+	Missense_Mutation	SNP	C	C	T	rs143575422	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30518143C>T	ENST00000356798.6	+	21	2654	c.2474C>T	c.(2473-2475)cCg>cTg	p.P825L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.P741L|MIR4518_ENST00000580665.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CACTTCCCCCCGGGACTCTCC	0.602																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2473-2475)cCg>cTg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)		LEU/PRO,LEU/PRO	0,4394		0,0,2197	126.0	124.0	125.0		2222,2474	-5.8	0.1	16	dbSNP_134	125	2,8598		0,2,4298	yes	missense,missense	ITGAL	NM_001114380.1,NM_002209.2	98,98	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	741/1087,825/1171	30518143	2,12992	2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30518143C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2474C>T	16.37:g.30518143C>T	ENSP00000349252:p.Pro825Leu					ITGAL_ENST00000358164.5_Missense_Mutation_p.P741L|ITGAL_ENST00000433423.2_Intron	p.P825L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			21	2654	+			825					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2474C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.643851	0.29246	0.0	2.33E-4	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.48201	0.82;0.82	5.2	-5.8	0.02347	Integrin alpha-2 (1);	1.128570	0.06770	N	0.783345	T	0.25791	0.0628	N	0.14661	0.345	0.25392	N	0.988517	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.20706	-1.0267	10	0.28530	T	0.3	.	8.5299	0.33329	0.6441:0.2243:0.1316:0.0	.	741;825	Q96HB1;P20701	.;ITAL_HUMAN	L	825;741	ENSP00000349252:P825L;ENSP00000350886:P741L	ENSP00000349252:P825L	P	+	2	0	ITGAL	30425644	0.000000	0.05858	0.088000	0.20740	0.100000	0.18952	-4.060000	0.00303	-1.283000	0.02393	-2.054000	0.00404	CCG		0.602	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			16	1134	0	0	0	1	0	16	1134				
POGZ	23126	broad.mit.edu	37	1	151377699	151377699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377699G>A	ENST00000271715.2	-	19	4126	c.3812C>T	c.(3811-3813)aCt>aTt	p.T1271I	POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000540984.1_Missense_Mutation_p.T633I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1271	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCTTGACAGTTCTTTTGAT	0.478																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3811-3813)aCt>aTt		pogo transposable element with ZNF domain							174.0	175.0	175.0					1																	151377699		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377699G>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3812C>T	1.37:g.151377699G>A	ENSP00000271715:p.Thr1271Ile					POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000540984.1_Missense_Mutation_p.T633I	p.T1271I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4126	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1271			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3812C>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848517	0.51164	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.08	6.08	0.98989	.	0.075082	0.56097	D	0.000031	T	0.34077	0.0885	N	0.08118	0	0.32220	N	0.575412	P;P;D;D;B;P	0.67145	0.481;0.481;0.996;0.996;0.426;0.481	B;B;D;D;B;B	0.64144	0.22;0.22;0.922;0.922;0.14;0.22	T	0.39522	-0.9610	10	0.49607	T	0.09	-17.7954	19.2359	0.93858	0.0:0.0:1.0:0.0	.	1209;1262;1176;1227;1218;1271	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	I	1218;1271;1218;1176;1262;1209;633;1227	ENSP00000376484:T1218I;ENSP00000271715:T1271I;ENSP00000354467:T1218I;ENSP00000357856:T1176I;ENSP00000386836:T1262I;ENSP00000431259:T1209I;ENSP00000443547:T633I;ENSP00000418408:T1227I	ENSP00000271715:T1271I	T	-	2	0	POGZ	149644323	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.115000	0.64655	2.894000	0.99253	0.591000	0.81541	ACT		0.478	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		200	1017	0	0	0	1	0	200	1017				
MUC16	94025	broad.mit.edu	37	19	9057514	9057514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9057514C>A	ENST00000397910.4	-	3	30135	c.29932G>T	c.(29932-29934)Gcc>Tcc	p.A9978S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9980	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAAGGGGGCTGTTGTTGTG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29932-29934)Gcc>Tcc		mucin 16, cell surface associated							214.0	209.0	211.0					19																	9057514		1958	4145	6103	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057514C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29932G>T	19.37:g.9057514C>A	ENSP00000381008:p.Ala9978Ser						p.A9978S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30135	-			9980			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29932G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.810	0.333732	0.11013	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.13	-3.47	0.04753	.	.	.	.	.	T	0.12475	0.0303	N	0.19112	0.55	.	.	.	B	0.23540	0.087	B	0.26517	0.07	T	0.33445	-0.9868	8	0.87932	D	0	.	0.2525	0.00207	0.2077:0.2926:0.2051:0.2946	.	9978	B5ME49	.	S	9978	ENSP00000381008:A9978S	ENSP00000381008:A9978S	A	-	1	0	MUC16	8918514	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.167000	0.01271	-0.745000	0.04772	0.460000	0.39030	GCC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		200	866	1	0	4.62547e-62	1	5.82772e-62	200	866				
MYLK2	85366	broad.mit.edu	37	20	30419645	30419645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30419645G>A	ENST00000375994.2	+	10	1837	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	522	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAACCTCATCGTCAAGGACCA	0.527																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1564-1566)Gtc>Atc		myosin light chain kinase 2							105.0	93.0	97.0					20																	30419645		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30419645G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1564G>A	20.37:g.30419645G>A	ENSP00000365162:p.Val522Ile					MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I|MYLK2_ENST00000468730.1_3'UTR	p.V522I			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		10	1837	+			522			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1564G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	9.596	1.127489	0.20959	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.65178	-0.14;-0.14	4.88	1.79	0.24919	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.51312	0.1667	L	0.56340	1.77	0.23174	N	0.998171	B	0.21606	0.058	B	0.21917	0.037	T	0.36625	-0.9740	9	0.16896	T	0.51	.	6.9167	0.24363	0.4535:0.0:0.5465:0.0	.	522	Q9H1R3	MYLK2_HUMAN	I	522	ENSP00000365162:V522I;ENSP00000365152:V522I	ENSP00000365152:V522I	V	+	1	0	MYLK2	29883306	0.881000	0.30235	1.000000	0.80357	0.990000	0.78478	1.655000	0.37345	0.653000	0.30826	0.643000	0.83706	GTC		0.527	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		70	306	0	0	0	1	0	70	306				
MIR654	724024	broad.mit.edu	37	14	101506578	101506578	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101506578C>T	ENST00000385199.1	+	0	23				MIR376C_ENST00000607441.1_RNA|AL132709.2_ENST00000579587.1_RNA|MIR300_ENST00000401138.1_RNA|MIR376A1_ENST00000584362.1_RNA|MIR1185-1_ENST00000408598.1_RNA	NR_030390.1				microRNA 654																		AGATGGTGGGCCGCAGAACAT	0.567																																						ENST00000385199.1																			0																				102.0	93.0	96.0					14																	101506578		1565	3580	5145			0							g.chr14:101506578C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000207934	ENSG00000207934		"""ncRNAs / Micro RNAs"""	32910	non-coding RNA	RNA, micro				MIRN654			Standard	NR_030390		Approved	hsa-mir-654	uc021sda.1				14.37:g.101506578C>T								NR_030390.1						0	23	+									RNA	SNP	ENST00000385199.1	37																																																																																						0.567	MIR654-201	KNOWN	basic	miRNA	miRNA		NR_030390		15	78	0	0	0	1	0	15	78				
STRIP1	85369	broad.mit.edu	37	1	110580524	110580524	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110580524G>T	ENST00000369795.3	+	2	214	c.192G>T	c.(190-192)gaG>gaT	p.E64D	STRIP1_ENST00000369796.1_5'UTR|STRIP1_ENST00000369794.2_Missense_Mutation_p.E64D	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	64					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GCTATTCGGAGTCACCAGACC	0.468																																						ENST00000369795.3																			0											c.(190-192)gaG>gaT		striatin interacting protein 1							102.0	98.0	99.0					1																	110580524		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110580524G>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.192G>T	1.37:g.110580524G>T	ENSP00000358810:p.Glu64Asp					STRIP1_ENST00000369796.1_5'UTR|STRIP1_ENST00000369794.2_Missense_Mutation_p.E64D	p.E64D	NM_033088.2	NP_149079.2					2	214	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.192G>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	7.781	0.709525	0.15239	.	.	ENSG00000143093	ENST00000369795;ENST00000369794	T	0.51574	0.7	5.07	2.07	0.26955	.	0.000000	0.85682	D	0.000000	T	0.08088	0.0202	N	0.05124	-0.11	0.51482	D	0.999924	B	0.15719	0.014	B	0.18561	0.022	T	0.30621	-0.9972	10	0.05721	T	0.95	-27.0266	10.5499	0.45081	0.2788:0.0:0.7212:0.0	.	64	Q5VSL9	FA40A_HUMAN	D	64	ENSP00000358810:E64D	ENSP00000358809:E64D	E	+	3	2	FAM40A	110382047	1.000000	0.71417	0.948000	0.38648	0.641000	0.38312	1.119000	0.31258	0.627000	0.30340	0.555000	0.69702	GAG		0.468	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		39	228	1	0	2.40579e-17	1	2.65515e-17	39	228				
TMEM175	84286	broad.mit.edu	37	4	944245	944245	+	Missense_Mutation	SNP	C	C	T	rs199536272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:944245C>T	ENST00000264771.4	+	4	414	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	77						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCTGGCAACACGGATTGCCGT	0.577																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(229-231)Cgg>Tgg		transmembrane protein 175							133.0	116.0	122.0					4																	944245		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:944245C>T	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.229C>T	4.37:g.944245C>T	ENSP00000264771:p.Arg77Trp					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_5'UTR	p.R77W	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	414	+			77					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.229C>T	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381533	0.42207	.	.	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000514546	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.9	3.72	0.42706	.	0.133487	0.48767	D	0.000179	T	0.47488	0.1448	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.45381	-0.9265	10	0.87932	D	0	-9.1519	8.6409	0.33976	0.7942:0.2058:0.0:0.0	.	77	Q9BSA9	TM175_HUMAN	W	76;77;64;77	ENSP00000424746:R76W;ENSP00000264771:R77W;ENSP00000425181:R64W;ENSP00000425763:R77W	ENSP00000264771:R77W	R	+	1	2	TMEM175	934245	1.000000	0.71417	0.411000	0.26484	0.002000	0.02628	6.164000	0.71885	0.740000	0.32651	-0.424000	0.05967	CGG		0.577	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		99	421	0	0	0	1	0	99	421				
GRIP2	80852	broad.mit.edu	37	3	14548392	14548392	+	RNA	SNP	C	C	T	rs374577398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14548392C>T	ENST00000273083.3	-	0	2379							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCGAGAAGCGGGCTGCTGG	0.657																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2		C	HIS/ARG	0,4036		0,0,2018	17.0	22.0	20.0		2605	2.7	0.1	3		20	1,8333		0,1,4166	no	missense	GRIP2	NM_001080423.2	29	0,1,6184	TT,TC,CC		0.012,0.0,0.0081	benign	869/1141	14548392	1,12369	2018	4167	6185			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14548392C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14548392C>T										Q9C0E4	GRIP2_HUMAN			0	2379	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.657	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		15	64	0	0	0	1	0	15	64				
TRIM7	81786	broad.mit.edu	37	5	180622208	180622208	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180622208G>A	ENST00000274773.7	-	7	1555	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	TRIM7_ENST00000361809.3_Silent_p.F290F|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000393315.1_Silent_p.F290F|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000422067.2_Silent_p.F290F|CTC-338M12.5_ENST00000514487.1_RNA|TRIM7_ENST00000393319.3_Silent_p.F316F|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000504241.1_5'UTR	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	498	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGCAAACAGAGAAAAGCGGGA	0.632																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(868-870)ttC>ttT		tripartite motif containing 7							59.0	43.0	49.0					5																	180622208		2203	4300	6503	SO:0001819	synonymous_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622208G>A	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1494C>T	5.37:g.180622208G>A						TRIM7_ENST00000274773.7_Silent_p.F498F|TRIM7_ENST00000422067.2_Silent_p.F290F|TRIM7_ENST00000361809.3_Silent_p.F290F|TRIM7_ENST00000393319.3_Silent_p.F316F|TRIM7_ENST00000504241.1_5'UTR	p.F290F	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1567	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	498					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	37	c.870C>T	CCDS4462.1																																																																																				0.632	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		44	147	0	0	0	1	0	44	147				
SLC7A10	56301	broad.mit.edu	37	19	33706682	33706682	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33706682G>T	ENST00000253188.4	-	2	495	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	117					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACCCAGCCAGGCCCCCGAAG	0.652																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(349-351)Ctg>Atg		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							32.0	28.0	30.0					19																	33706682		2148	4228	6376	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33706682G>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.349C>A	19.37:g.33706682G>T	ENSP00000253188:p.Leu117Met						p.L117M	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			2	495	-	Esophageal squamous(110;0.137)		117					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.349C>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685885	0.68157	.	.	ENSG00000130876	ENST00000253188	D	0.90900	-2.75	4.79	4.79	0.61399	Amino acid permease domain (1);	0.076843	0.53938	D	0.000058	D	0.93651	0.7972	M	0.75615	2.305	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.93389	0.6750	10	0.72032	D	0.01	.	7.0484	0.25059	0.1969:0.0:0.8031:0.0	.	117	Q9NS82	AAA1_HUMAN	M	117	ENSP00000253188:L117M	ENSP00000253188:L117M	L	-	1	2	SLC7A10	38398522	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.879000	0.39618	2.240000	0.73641	0.456000	0.33151	CTG		0.652	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		3	19	1	0	0.004672	1	0.00470394	3	19				
ECM2	1842	broad.mit.edu	37	9	95284865	95284865	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95284865A>G	ENST00000344604.5	-	2	433	c.284T>C	c.(283-285)gTg>gCg	p.V95A	ECM2_ENST00000444490.2_Missense_Mutation_p.V95A|ECM2_ENST00000375540.1_Missense_Mutation_p.V95A|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	95					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACCTGGTAACACATTATAACT	0.418																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(283-285)gTg>gCg		extracellular matrix protein 2, female organ and adipocyte specific							48.0	51.0	50.0					9																	95284865		2202	4300	6502	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95284865A>G	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.284T>C	9.37:g.95284865A>G	ENSP00000344758:p.Val95Ala					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.V95A|ECM2_ENST00000375540.1_Missense_Mutation_p.V95A	p.V95A	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			2	433	-			95					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.284T>C	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089048	0.76756	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.92	4.92	0.64577	.	0.140060	0.47455	D	0.000237	T	0.53883	0.1824	M	0.64997	1.995	0.49687	D	0.999812	D;D;D;D	0.69078	0.962;0.996;0.988;0.997	P;P;P;P	0.61800	0.53;0.787;0.696;0.894	T	0.58446	-0.7635	10	0.87932	D	0	.	14.7117	0.69238	1.0:0.0:0.0:0.0	.	95;95;95;95	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	A	95	ENSP00000393971:V95A;ENSP00000344758:V95A;ENSP00000364690:V95A;ENSP00000378905:V95A	ENSP00000344758:V95A	V	-	2	0	ECM2	94324686	0.987000	0.35691	0.988000	0.46212	0.983000	0.72400	5.813000	0.69201	2.214000	0.71695	0.528000	0.53228	GTG		0.418	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		14	147	0	0	0	1	0	14	147				
TMED8	283578	broad.mit.edu	37	14	77812773	77812773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77812773C>T	ENST00000216468.7	-	3	301	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	82					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGTTGCTTTCCGCAGATCTT	0.517																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(244-246)cgG>cgA		transmembrane emp24 protein transport domain containing 8							107.0	107.0	107.0					14																	77812773		2203	4300	6503	SO:0001819	synonymous_variant	283578				transport	integral to membrane		g.chr14:77812773C>T	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.246G>A	14.37:g.77812773C>T							p.R82R	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	301	-			82					B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	ENST00000216468.7	37	c.246G>A	CCDS32125.1																																																																																				0.517	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		69	371	0	0	0	1	0	69	371				
SPG7	6687	broad.mit.edu	37	16	89619414	89619414	+	Missense_Mutation	SNP	G	G	A	rs370852816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89619414G>A	ENST00000268704.2	+	14	1822	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	603			A -> T. {ECO:0000269|PubMed:16534102}.		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GACAAACGCCGCCCTGGGCTT	0.602																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1807-1809)Gcc>Acc		spastic paraplegia 7 (pure and complicated autosomal recessive)		G	THR/ALA	0,4396		0,0,2198	67.0	56.0	60.0		1807	5.8	0.2	16		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPG7	NM_003119.2	58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	603/796	89619414	1,12995	2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89619414G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1807G>A	16.37:g.89619414G>A	ENSP00000268704:p.Ala603Thr						p.A603T	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	14	1822	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	603		A -> T.			O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1807G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360229	0.82353	0.0	1.16E-4	ENSG00000197912	ENST00000268704;ENST00000312613	D	0.87103	-2.21	5.84	5.84	0.93424	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.94082	0.8103	M	0.86864	2.845	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.94351	0.7579	10	0.87932	D	0	1.556	20.1278	0.97990	0.0:0.0:1.0:0.0	.	603	Q9UQ90	SPG7_HUMAN	T	603;193	ENSP00000268704:A603T	ENSP00000268704:A603T	A	+	1	0	SPG7	88146915	1.000000	0.71417	0.206000	0.23566	0.184000	0.23303	7.745000	0.85046	2.768000	0.95171	0.561000	0.74099	GCC		0.602	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		40	141	0	0	0	1	0	40	141				
HDAC5	10014	broad.mit.edu	37	17	42161219	42161219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42161219G>A	ENST00000393622.2	-	17	2640	c.2309C>T	c.(2308-2310)cCc>cTc	p.P770L	HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L|HDAC5_ENST00000225983.6_Missense_Mutation_p.P771L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	770	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTGGCTGATGGGGCCTGCATG	0.597																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2311-2313)cCc>cTc		histone deacetylase 5							60.0	59.0	59.0					17																	42161219		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42161219G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2309C>T	17.37:g.42161219G>A	ENSP00000377244:p.Pro770Leu					HDAC5_ENST00000393622.2_Missense_Mutation_p.P770L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L	p.P771L			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	17	2635	-		Breast(137;0.00637)|Prostate(33;0.0313)	770			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2312C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657976	0.47467	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.69561	-0.41;-0.41;1.21	5.0	5.0	0.66597	Histone deacetylase domain (2);	0.229124	0.36134	N	0.002771	T	0.56572	0.1994	N	0.01817	-0.705	0.80722	D	1	D;B;B;B	0.63046	0.992;0.0;0.0;0.0	P;B;B;B	0.59643	0.861;0.012;0.003;0.004	T	0.65088	-0.6253	10	0.27785	T	0.31	-17.6981	17.2411	0.87013	0.0:0.0:1.0:0.0	.	685;770;771;770	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	L	771;770;685	ENSP00000225983:P771L;ENSP00000377244:P770L;ENSP00000337290:P685L	ENSP00000225983:P771L	P	-	2	0	HDAC5	39516745	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.382000	0.66213	2.607000	0.88179	0.655000	0.94253	CCC		0.597	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		76	314	0	0	0	1	0	76	314				
DNM1P46	196968	broad.mit.edu	37	15	100332299	100332299	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100332299G>T	ENST00000341853.1	-	0	1892				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GGGCCATGCAGGAGGTCATGG	0.637																																						ENST00000341853.1																			0																				88.0	89.0	89.0					15																	100332299		876	1991	2867			0							g.chr15:100332299G>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332299G>T								NR_003260.1						0	1892	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.637	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		72	332	1	0	3.12118e-38	1	3.75939e-38	72	332				
GRIP2	80852	broad.mit.edu	37	3	14566999	14566999	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14566999C>T	ENST00000273083.3	-	0	267							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCATCCTTGTCGGTGCCACCT	0.617																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							70.0	73.0	72.0					3																	14566999		1990	4172	6162			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14566999C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14566999C>T										Q9C0E4	GRIP2_HUMAN			0	267	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		33	298	0	0	0	1	0	33	298				
CXCR1	3577	broad.mit.edu	37	2	219029240	219029240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029240G>A	ENST00000295683.2	-	2	815	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	232					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	CCCCATGTGGGCCTTAAACAG	0.562																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(694-696)gCc>gTc		chemokine (C-X-C motif) receptor 1							135.0	125.0	129.0					2																	219029240		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029240G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.695C>T	2.37:g.219029240G>A	ENSP00000295683:p.Ala232Val						p.A232V	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	815	-			232					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.695C>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615895	0.46631	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.38560	1.13	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.108387	0.64402	D	0.000006	T	0.44871	0.1314	L	0.59436	1.845	0.24168	N	0.995634	P	0.38745	0.645	P	0.46419	0.516	T	0.44360	-0.9333	10	0.59425	D	0.04	.	6.8765	0.24149	0.0959:0.18:0.7241:0.0	.	232	P25024	CXCR1_HUMAN	V	232;176	ENSP00000295683:A232V	ENSP00000295683:A232V	A	-	2	0	CXCR1	218737485	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	6.300000	0.72776	2.210000	0.71456	0.561000	0.74099	GCC		0.562	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		173	602	0	0	0	1	0	173	602				
USP9X	8239	broad.mit.edu	37	X	41031200	41031200	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41031200T>G	ENST00000324545.8	+	21	3770	c.3137T>G	c.(3136-3138)cTt>cGt	p.L1046R	USP9X_ENST00000378308.2_Missense_Mutation_p.L1046R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1046					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTATGAAACTTATGCCGCCA	0.393																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3136-3138)cTt>cGt		ubiquitin specific peptidase 9, X-linked							117.0	112.0	114.0					X																	41031200		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41031200T>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3137T>G	X.37:g.41031200T>G	ENSP00000316357:p.Leu1046Arg					USP9X_ENST00000378308.2_Missense_Mutation_p.L1046R	p.L1046R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			21	3770	+			1046					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.3137T>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130005	0.77549	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.04706	3.57;3.57	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.70595	2.14	0.80722	D	1	D;P	0.56287	0.975;0.911	P;P	0.55824	0.785;0.53	T	0.00763	-1.1576	10	0.41790	T	0.15	.	14.4484	0.67367	0.0:0.0:0.0:1.0	.	1046;1046	Q93008-1;Q93008	.;USP9X_HUMAN	R	1046	ENSP00000367558:L1046R;ENSP00000316357:L1046R	ENSP00000316357:L1046R	L	+	2	0	USP9X	40916144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.673000	0.83973	1.791000	0.52520	0.481000	0.45027	CTT		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	502	0	0	0	1	0	14	502				
DNTTIP2	30836	broad.mit.edu	37	1	94342258	94342258	+	Silent	SNP	G	G	A	rs544151323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94342258G>A	ENST00000436063.2	-	2	1290	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CACTGTTCATGTCTTCACTGA	0.398																																						ENST00000436063.2																			0				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38						c.(1231-1233)gaC>gaT		deoxynucleotidyltransferase, terminal, interacting protein 2							268.0	260.0	263.0					1																	94342258		1991	4152	6143	SO:0001819	synonymous_variant	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342258G>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1233C>T	1.37:g.94342258G>A						DNTTIP2_ENST00000460191.1_5'UTR	p.D411D	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1290	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	411					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	c.1233C>T	CCDS44174.1																																																																																				0.398	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		229	730	0	0	0	1	0	229	730				
MAF	4094	broad.mit.edu	37	16	79633606	79633606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633606C>T	ENST00000393350.1	-	1	1005	c.194G>A	c.(193-195)aGc>aAc	p.S65N	MAF_ENST00000326043.4_Missense_Mutation_p.S65N|MAF_ENST00000569649.1_Missense_Mutation_p.S65N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	65					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GGGCACCGAGCTGCACGGCGT	0.682			T	IGH@	MM																																	ENST00000393350.1				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10						c.(193-195)aGc>aAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							16.0	19.0	18.0					16																	79633606		2193	4298	6491	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633606C>T		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.194G>A	16.37:g.79633606C>T	ENSP00000377019:p.Ser65Asn					MAF_ENST00000569649.1_Missense_Mutation_p.S65N|MAF_ENST00000326043.4_Missense_Mutation_p.S65N	p.S65N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	1005	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	65					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.194G>A	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340061	0.60963	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.98835	-5.17;-5.14	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	L	0.55834	1.745	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	D	0.99360	1.0917	10	0.49607	T	0.09	-6.6173	15.9937	0.80225	0.0:1.0:0.0:0.0	.	65;65	O75444;O75444-1	MAF_HUMAN;.	N	65	ENSP00000327048:S65N;ENSP00000377019:S65N	ENSP00000327048:S65N	S	-	2	0	MAF	78191107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.910000	0.75741	1.830000	0.53286	0.638000	0.83543	AGC		0.682	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			29	154	0	0	0	1	0	29	154				
HECTD4	283450	broad.mit.edu	37	12	112646316	112646316	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112646316G>A	ENST00000430131.2	-	50	7865	c.6720C>T	c.(6718-6720)gaC>gaT	p.D2240D	HECTD4_ENST00000377560.5_Silent_p.D2490D|HECTD4_ENST00000550722.1_Silent_p.D2516D			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2240					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGtcatcatcgtcatcatcat	0.502																																						ENST00000550722.1																			0											c.(7546-7548)gaC>gaT		HECT domain containing E3 ubiquitin protein ligase 4							114.0	111.0	112.0					12																	112646316		2062	4227	6289	SO:0001819	synonymous_variant	283450							g.chr12:112646316G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6720C>T	12.37:g.112646316G>A						HECTD4_ENST00000377560.5_Silent_p.D2490D|HECTD4_ENST00000430131.2_Silent_p.D2240D	p.D2516D	NM_001109662.3	NP_001103132.3					51	7943	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7548C>T		.	.	.	.	.	.	.	.	.	.	G	8.261	0.811178	0.16537	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	-4.34	0.03666	.	.	.	.	.	T	0.63885	0.2549	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64118	-0.6482	4	.	.	.	.	15.2279	0.73364	0.553:0.0:0.447:0.0	.	.	.	.	M	407	.	.	T	-	2	0	C12orf51	111130699	0.000000	0.05858	0.906000	0.35671	0.889000	0.51656	-1.995000	0.01472	-0.793000	0.04475	-0.136000	0.14681	ACG		0.502	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		22	294	0	0	0	1	0	22	294				
NOBOX	135935	broad.mit.edu	37	7	144097306	144097306	+	Missense_Mutation	SNP	C	C	T	rs199740315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144097306C>T	ENST00000467773.1	-	5	943	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	315					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TACCATGATGCGCTGGGGGGT	0.587																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(943-945)cGc>cAc		NOBOX oogenesis homeobox		C	HIS/ARG	2,3832		0,2,1915	62.0	62.0	62.0		944	5.7	1.0	7		62	1,8233		0,1,4116	yes	missense	NOBOX	NM_001080413.3	29	0,3,6031	TT,TC,CC		0.0121,0.0522,0.0249	probably-damaging	315/692	144097306	3,12065	1917	4117	6034	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097306C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.944G>A	7.37:g.144097306C>T	ENSP00000419457:p.Arg315His					NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H	p.R315H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			5	943	-	Melanoma(164;0.14)		315					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.944G>A		.	.	.	.	.	.	.	.	.	.	C	23.6	4.433226	0.83776	5.22E-4	1.21E-4	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.96459	-4.02;-4.02;-4.02	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.066452	0.53938	D	0.000057	D	0.98169	0.9395	M	0.83603	2.65	0.43930	D	0.996589	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	10	0.87932	D	0	-27.6213	17.2787	0.87122	0.0:1.0:0.0:0.0	.	315	O60393	NOBOX_HUMAN	H	315;315;230;104	ENSP00000419565:R315H;ENSP00000419457:R315H;ENSP00000223140:R230H	ENSP00000223140:R230H	R	-	2	0	NOBOX	143728239	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	5.277000	0.65586	2.671000	0.90904	0.650000	0.86243	CGC		0.587	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		65	298	0	0	0	1	0	65	298				
ST7L	54879	broad.mit.edu	37	1	113098550	113098550	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113098550G>T	ENST00000358039.4	-	12	1640	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I	ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I|ST7L_ENST00000369668.2_Missense_Mutation_p.L446I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	446					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGCTGAAGATGAAAGAAA	0.363																																						ENST00000358039.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15						c.(1336-1338)Ctt>Att		suppression of tumorigenicity 7 like							135.0	125.0	129.0					1																	113098550		2203	4300	6503	SO:0001583	missense	54879				negative regulation of cell growth	integral to membrane	binding	g.chr1:113098550G>T	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1336C>A	1.37:g.113098550G>T	ENSP00000350734:p.Leu446Ile					ST7L_ENST00000369668.2_Missense_Mutation_p.L446I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I	p.L446I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1640	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	446					A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	c.1336C>A	CCDS848.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750582	0.89753	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.34919	0.0914	L	0.56199	1.76	0.80722	D	1	D;D;P;D;D;P;D;P	0.89917	1.0;0.999;0.697;0.96;0.96;0.919;0.96;0.934	D;D;P;P;P;P;P;P	0.87578	0.997;0.998;0.574;0.668;0.668;0.668;0.668;0.776	T	0.01228	-1.1412	10	0.37606	T	0.19	-13.8533	19.1881	0.93653	0.0:0.0:1.0:0.0	.	390;381;381;446;429;429;446;446	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;ST7L_HUMAN	I	446;446;227;381;263;429;446;446;429;390	ENSP00000350734:L446I;ENSP00000353972:L446I;ENSP00000445499:L381I;ENSP00000358683:L263I;ENSP00000417140:L429I;ENSP00000358682:L446I;ENSP00000345312:L446I;ENSP00000358680:L429I;ENSP00000444021:L390I	ENSP00000345312:L446I	L	-	1	0	ST7L	112900073	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.625000	0.88918	0.585000	0.79938	CTT		0.363	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			41	369	1	0	6.2361e-21	1	7.00342e-21	41	369				
ZAN	7455	broad.mit.edu	37	7	100365518	100365518	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100365518G>A	ENST00000348028.3	+	0	5090				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATAAGGCTCAGCAGCAACCTC	0.602																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							62.0	66.0	65.0					7																	100365518		2084	4210	6294			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100365518G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365518G>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5073	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	26.0	4.696617	0.88830	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.77	4.77	0.60923	von Willebrand factor, type D domain (3);	0.000000	0.51477	D	0.000082	T	0.76751	0.4031	M	0.84082	2.675	0.22754	N	0.998771	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69658	-0.5086	10	0.66056	D	0.02	.	13.9911	0.64367	0.0:0.0:1.0:0.0	.	1642;1642	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1642;1642;1642;219	ENSP00000445943:S1642N;ENSP00000445091:S1642N;ENSP00000444427:S1642N;ENSP00000441117:S219N	ENSP00000423579:S1642N	S	+	2	0	ZAN	100203454	0.997000	0.39634	0.678000	0.29963	0.019000	0.09904	3.953000	0.56699	2.586000	0.87340	0.655000	0.94253	AGC		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		45	200	0	0	0	1	0	45	200				
SETBP1	26040	broad.mit.edu	37	18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42531860C>T	ENST00000282030.5	+	4	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	852						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGGAAATCACGCTGTCCCCT	0.562									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2554-2556)aCg>aTg		SET binding protein 1							87.0	60.0	69.0					18																	42531860		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531860C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2555C>T	18.37:g.42531860C>T	ENSP00000282030:p.Thr852Met						p.T852M	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2851	+			852					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2555C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634191	0.67130	.	.	ENSG00000152217	ENST00000282030	D	0.91124	-2.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	852	Q9Y6X0	SETBP_HUMAN	M	852	ENSP00000282030:T852M	ENSP00000282030:T852M	T	+	2	0	SETBP1	40785858	1.000000	0.71417	0.738000	0.30950	0.992000	0.81027	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	ACG		0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		33	205	0	0	0	1	0	33	205				
MYBPC1	4604	broad.mit.edu	37	12	102056307	102056307	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102056307G>T	ENST00000550270.1	+	19	2129	c.2129G>T	c.(2128-2130)aGg>aTg	p.R710M	MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R723M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	710	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGCCCTCCAGGCCTTTTGTT	0.473																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2167-2169)aGg>aTg		myosin binding protein C, slow type							113.0	106.0	108.0					12																	102056307		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102056307G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2129G>T	12.37:g.102056307G>T	ENSP00000449702:p.Arg710Met					MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M	p.R723M			Q00872	MYPC1_HUMAN			20	2268	+			710			Fibronectin type-III 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2168G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549241	0.45383	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	6.01	-1.08	0.09936	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.491893	0.18148	N	0.150193	T	0.46328	0.1387	N	0.25992	0.78	0.32516	N	0.536896	P;P;B;B;B;B;P;B;P;P	0.38767	0.489;0.646;0.239;0.335;0.335;0.228;0.465;0.335;0.623;0.465	B;B;B;B;B;B;P;B;B;P	0.48189	0.375;0.305;0.139;0.264;0.367;0.192;0.501;0.367;0.353;0.57	T	0.57952	-0.7722	10	0.87932	D	0	.	10.9076	0.47088	0.6988:0.0:0.3012:0.0	.	691;698;710;710;697;684;710;710;735;735	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	M	684;710;710;710;697;696;735;723;710;735;710;691;698;735;611;710	ENSP00000448175:R684M;ENSP00000400908:R710M;ENSP00000388989:R710M;ENSP00000353822:R710M;ENSP00000376665:R697M;ENSP00000447362:R696M;ENSP00000354845:R735M;ENSP00000447660:R723M;ENSP00000447900:R710M;ENSP00000440034:R710M;ENSP00000446128:R691M;ENSP00000442847:R698M;ENSP00000354849:R735M;ENSP00000447116:R611M;ENSP00000449702:R710M	ENSP00000353822:R710M	R	+	2	0	MYBPC1	100580438	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.420000	0.44679	-0.348000	0.08286	-0.300000	0.09419	AGG		0.473	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			86	307	1	0	1.55023e-36	1	1.85648e-36	86	307				
DCHS2	54798	broad.mit.edu	37	4	155278477	155278477	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155278477C>A	ENST00000357232.4	-	6	694		c.e6-1		DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctatagagtcctaattaggga	0.428																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.e6-1		dachsous cadherin-related 2							61.0	65.0	63.0					4																	155278477		2203	4300	6503	SO:0001630	splice_region_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278477C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.695-1G>T	4.37:g.155278477C>A						DCHS2_ENST00000339452.1_Intron		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	694	-	all_hematologic(180;0.208)	Renal(120;0.0854)						B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Splice_Site	SNP	ENST00000357232.4	37		CCDS3785.1																																																																																				0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	Intron	73	311	1	0	2.36135e-34	1	2.80899e-34	73	311				
TAF2	6873	broad.mit.edu	37	8	120795700	120795700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120795700C>T	ENST00000378164.2	-	16	2331	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	678					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAGTGCAAGCCGAGATGCTGG	0.418																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2032-2034)cGg>cAg		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							116.0	117.0	117.0					8																	120795700		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120795700C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2033G>A	8.37:g.120795700C>T	ENSP00000367406:p.Arg678Gln						p.R678Q	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		16	2331	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		678					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2033G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423498	0.96111	.	.	ENSG00000064313	ENST00000378164	T	0.50277	0.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.42245	1.32	0.80722	D	1	D	0.64830	0.994	P	0.50659	0.647	T	0.45498	-0.9257	10	0.40728	T	0.16	-38.7402	20.6593	0.99626	0.0:1.0:0.0:0.0	.	678	Q6P1X5	TAF2_HUMAN	Q	678	ENSP00000367406:R678Q	ENSP00000367406:R678Q	R	-	2	0	TAF2	120864881	1.000000	0.71417	0.834000	0.33040	0.980000	0.70556	7.789000	0.85783	2.885000	0.99019	0.655000	0.94253	CGG		0.418	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		104	434	0	0	0	1	0	104	434				
LYPLAL1	127018	broad.mit.edu	37	1	219366593	219366593	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:219366593G>T	ENST00000366928.5	+	3	408	c.361G>T	c.(361-363)Gga>Tga	p.G121*	LYPLAL1_ENST00000366927.3_Splice_Site_p.G105*|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	121					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GATATTAATAGGTAAGACCTT	0.318																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.e3+1		lysophospholipase-like 1							69.0	68.0	68.0					1																	219366593		2203	4299	6502	SO:0001630	splice_region_variant	127018					cytoplasm	lysophospholipase activity	g.chr1:219366593G>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.361+1G>T	1.37:g.219366593G>T						LYPLAL1_ENST00000366927.3_Splice_Site_p.G105_splice|LYPLAL1_ENST00000483635.1_3'UTR	p.G121_splice	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	3	408	+			121					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Splice_Site	SNP	ENST00000366928.5	37	c.361_splice	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568093	0.86439	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	121;105	.	ENSP00000355894:G105X	G	+	1	0	LYPLAL1	217433216	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.780000	0.85658	2.753000	0.94483	0.585000	0.79938	GGA		0.318	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794	Nonsense_Mutation	34	115	1	0	2.20474e-14	1	2.39557e-14	34	115				
RMND1	55005	broad.mit.edu	37	6	151766865	151766865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151766865G>T	ENST00000367303.4	-	2	204	c.82C>A	c.(82-84)Cta>Ata	p.L28I	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	28					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTTAACATTAGATGACCGATT	0.418																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(82-84)Cta>Ata		required for meiotic nuclear division 1 homolog (S. cerevisiae)							74.0	65.0	68.0					6																	151766865		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151766865G>T	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.82C>A	6.37:g.151766865G>T	ENSP00000356272:p.Leu28Ile					RMND1_ENST00000491268.1_5'UTR	p.L28I	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	204	-		Ovarian(120;0.125)	28					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.82C>A	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	G	8.615	0.890054	0.17540	.	.	ENSG00000155906	ENST00000367303	T	0.44881	0.91	5.22	4.34	0.51931	.	1.119980	0.06825	N	0.792876	T	0.16171	0.0389	N	0.14661	0.345	0.34761	D	0.732727	P;B	0.35982	0.531;0.165	B;B	0.38056	0.264;0.032	T	0.02208	-1.1195	10	0.35671	T	0.21	0.5621	12.0296	0.53390	0.0825:0.0:0.9175:0.0	.	28;28	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	I	28	ENSP00000356272:L28I	ENSP00000356272:L28I	L	-	1	2	RMND1	151808558	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.605000	0.24179	1.179000	0.42884	0.563000	0.77884	CTA		0.418	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		63	274	1	0	3.56336e-21	1	4.00806e-21	63	274				
CCDC36	339834	broad.mit.edu	37	3	49293689	49293689	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49293689C>T	ENST00000438782.1	+	8	995	c.759C>T	c.(757-759)gtC>gtT	p.V253V	CCDC36_ENST00000452691.2_Silent_p.V253V|CCDC36_ENST00000296449.5_Silent_p.V253V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	253										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGCCCAGTGTCCTAGCAGAGC	0.532																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(757-759)gtC>gtT		coiled-coil domain containing 36							84.0	80.0	81.0					3																	49293689		2203	4300	6503	SO:0001819	synonymous_variant	339834							g.chr3:49293689C>T	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.759C>T	3.37:g.49293689C>T						CCDC36_ENST00000452691.2_Silent_p.V253V|CCDC36_ENST00000296449.5_Silent_p.V253V	p.V253V			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	995	+			253					C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	c.759C>T	CCDS33755.2																																																																																				0.532	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		103	334	0	0	0	1	0	103	334				
PTPRD	5789	broad.mit.edu	37	9	8340450	8340450	+	Missense_Mutation	SNP	C	C	T	rs200354236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8340450C>T	ENST00000381196.4	-	39	5689	c.5146G>A	c.(5146-5148)Gct>Act	p.A1716T	PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1716	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTGGGTAGCGATGTAGGCT	0.443										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5146-5148)Gct>Act		protein tyrosine phosphatase, receptor type, D							104.0	94.0	97.0					9																	8340450		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8340450C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5146G>A	9.37:g.8340450C>T	ENSP00000370593:p.Ala1716Thr	TSP Lung(15;0.13)				PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T	p.A1716T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	39	5689	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1716			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5146G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855189	0.91355	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.98	5.98	0.97165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.986;0.986;0.986;0.986;0.98;0.977;0.994;0.999;0.928	D	0.96522	0.9386	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1309;1300;1309;1310;1306;1306;1703;1716;1716	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1716;1716;1703;1694;1310;1309;1306;1306;1187;1716;1309;1309	ENSP00000370593:A1716T;ENSP00000348812:A1716T;ENSP00000353187:A1703T;ENSP00000351293:A1694T;ENSP00000347373:A1310T;ENSP00000380741:A1309T;ENSP00000380735:A1306T;ENSP00000440515:A1306T;ENSP00000438164:A1716T;ENSP00000417093:A1309T;ENSP00000380731:A1309T	.	A	-	1	0	PTPRD	8330450	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GCT		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			24	196	0	0	0	1	0	24	196				
RAB3A	5864	broad.mit.edu	37	19	18311216	18311216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18311216C>T	ENST00000222256.4	-	3	446	c.268G>A	c.(268-270)Gca>Aca	p.A90T	RAB3A_ENST00000464076.3_5'UTR	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	90					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CGGTAGTATGCGGTGGTGATG	0.552																																						ENST00000222256.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(268-270)Gca>Aca		RAB3A, member RAS oncogene family							212.0	168.0	183.0					19																	18311216		2203	4300	6503	SO:0001583	missense	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18311216C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.268G>A	19.37:g.18311216C>T	ENSP00000222256:p.Ala90Thr					RAB3A_ENST00000464076.2_5'UTR	p.A90T	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			3	446	-			90					A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	37	c.268G>A	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193455	0.78902	.	.	ENSG00000105649	ENST00000222256	T	0.80123	-1.34	5.0	5.0	0.66597	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85609	0.1257	10	0.87932	D	0	-34.8519	15.7492	0.77969	0.0:1.0:0.0:0.0	.	90	P20336	RAB3A_HUMAN	T	90	ENSP00000222256:A90T	ENSP00000222256:A90T	A	-	1	0	RAB3A	18172216	1.000000	0.71417	0.977000	0.42913	0.123000	0.20343	7.679000	0.84048	2.309000	0.77851	0.491000	0.48974	GCA		0.552	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		70	350	0	0	0	1	0	70	350				
ABCC4	10257	broad.mit.edu	37	13	95735417	95735417	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95735417T>A	ENST00000376887.4	-	21	2777	c.2663A>T	c.(2662-2664)gAt>gTt	p.D888V	ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	888	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCGCTTCACATCTCTTGACGT	0.443																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2662-2664)gAt>gTt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						86.0	91.0	90.0					13																	95735417		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95735417T>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2663A>T	13.37:g.95735417T>A	ENSP00000366084:p.Asp888Val					ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	p.D888V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			21	2777	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		888			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2663A>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143521	0.57044	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.89552	-2.53;-2.53	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.088371	0.85682	D	0.000000	D	0.94328	0.8177	M	0.82923	2.615	0.80722	D	1	D;D	0.67145	0.987;0.996	D;D	0.69142	0.937;0.962	D	0.95043	0.8180	10	0.72032	D	0.01	.	15.202	0.73147	0.0:0.0:0.0:1.0	.	841;888	O15439-2;O15439	.;MRP4_HUMAN	V	841;888	ENSP00000388657:D841V;ENSP00000366084:D888V	ENSP00000366084:D888V	D	-	2	0	ABCC4	94533418	1.000000	0.71417	0.989000	0.46669	0.110000	0.19582	7.520000	0.81821	2.120000	0.65058	0.460000	0.39030	GAT		0.443	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		78	312	0	0	0	1	0	78	312				
MDN1	23195	broad.mit.edu	37	6	90390433	90390433	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90390433G>T	ENST00000369393.3	-	74	12255	c.12140C>A	c.(12139-12141)tCc>tAc	p.S4047Y	MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4047					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCAAGCCGGAAGGAGCAGC	0.572																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(12139-12141)tCc>tAc		MDN1, midasin homolog (yeast)							64.0	59.0	60.0					6																	90390433		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90390433G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12140C>A	6.37:g.90390433G>T	ENSP00000358400:p.Ser4047Tyr					MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y	p.S4047Y			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	74	12255	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4047					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12140C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	5.332	0.246517	0.10130	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	4.54	0.545	0.17190	.	0.979712	0.08407	N	0.950525	T	0.00637	0.0021	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	10	0.02654	T	1	.	3.1593	0.06515	0.5294:0.0:0.177:0.2936	.	4047	Q9NU22	MDN1_HUMAN	Y	4047	ENSP00000358400:S4047Y;ENSP00000413970:S4047Y	ENSP00000358400:S4047Y	S	-	2	0	MDN1	90447154	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	0.508000	0.22692	-0.085000	0.12573	-0.367000	0.07326	TCC		0.572	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			24	192	1	0	4.22769e-11	1	4.50498e-11	24	192				
OBSCN	84033	broad.mit.edu	37	1	228565678	228565678	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228565678C>A	ENST00000422127.1	+	103	23594	c.23550C>A	c.(23548-23550)atC>atA	p.I7850I	OBSCN_ENST00000570156.2_Silent_p.I8805I|OBSCN_ENST00000366707.4_Silent_p.I5484I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7850	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACAGACATCTGGGCCATCG	0.647																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(26413-26415)atC>atA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							75.0	81.0	79.0					1																	228565678		2048	4204	6252	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228565678C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23550C>A	1.37:g.228565678C>A						OBSCN_ENST00000422127.1_Silent_p.I7850I|OBSCN_ENST00000366707.4_Silent_p.I5484I	p.I8805I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			114	26489	+		Prostate(94;0.0405)	7850					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.26415C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356963	0.41801	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.17	3.11	0.35812	.	.	.	.	.	T	0.58736	0.2143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55010	-0.8207	4	.	.	.	.	9.1082	0.36712	0.0:0.7162:0.1335:0.1503	.	.	.	.	M	2465	.	.	L	+	1	2	OBSCN	226632301	0.916000	0.31088	0.999000	0.59377	0.670000	0.39368	0.070000	0.14573	1.143000	0.42306	0.313000	0.20887	CTG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		19	202	1	0	5.35267e-07	1	5.54261e-07	19	202				
RGS7	6000	broad.mit.edu	37	1	241031913	241031913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241031913C>A	ENST00000407727.1	-	8	582	c.583G>T	c.(583-585)Gcg>Tcg	p.A195S	RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000366565.1_Missense_Mutation_p.A195S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000348120.2_Missense_Mutation_p.A142S|RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000366564.1_Missense_Mutation_p.A195S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	195					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCCCAGAACGCTCTCTCTTGG	0.478																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(583-585)Gcg>Tcg		regulator of G-protein signaling 7							152.0	117.0	129.0					1																	241031913		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241031913C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.583G>T	1.37:g.241031913C>A	ENSP00000384428:p.Ala195Ser					RGS7_ENST00000366564.1_Missense_Mutation_p.A195S|RGS7_ENST00000348120.2_Missense_Mutation_p.A142S|RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S|RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000407727.1_Missense_Mutation_p.A195S	p.A195S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		9	964	-		all_cancers(173;0.0131)	195					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.583G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.276787	0.95459	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.63255	0.39;0.26;0.32;0.31;-0.03;0.56;0.49;0.32;0.26;0.56	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.88775	2.98	0.80722	D	1	D;P;P;D;P;D;D	0.71674	0.968;0.919;0.951;0.998;0.951;0.996;0.969	P;P;P;D;P;D;P	0.70016	0.718;0.507;0.769;0.967;0.769;0.926;0.818	D	0.85729	0.1330	10	0.87932	D	0	-10.8088	18.6358	0.91378	0.0:1.0:0.0:0.0	.	111;169;142;195;195;195;195	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	S	169;195;195;195;26;142;111;195;195;142	ENSP00000331485:A169S;ENSP00000355523:A195S;ENSP00000355522:A195S;ENSP00000355521:A195S;ENSP00000404399:A26S;ENSP00000341242:A142S;ENSP00000390138:A111S;ENSP00000355520:A195S;ENSP00000384428:A195S;ENSP00000385508:A142S	ENSP00000331485:A169S	A	-	1	0	RGS7	239098536	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.734000	0.84928	2.653000	0.90120	0.655000	0.94253	GCG		0.478	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		69	395	1	0	2.6465e-34	1	3.14731e-34	69	395				
KIDINS220	57498	broad.mit.edu	37	2	8871237	8871237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871237C>T	ENST00000256707.3	-	30	5110	c.4929G>A	c.(4927-4929)atG>atA	p.M1643I	KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1643					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACAAATGGACATCCGAGCTA	0.493																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(4927-4929)atG>atA		kinase D-interacting substrate, 220kDa							84.0	77.0	80.0					2																	8871237		1945	4131	6076	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871237C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4929G>A	2.37:g.8871237C>T	ENSP00000256707:p.Met1643Ile					KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I	p.M1643I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	5110	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1643					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4929G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891470	0.91889	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.69685	-0.41;-0.41;-0.42;-0.41	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.60575	0.979;0.964;0.988	D;D;D	0.73708	0.981;0.968;0.981	T	0.77169	-0.2686	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1544;1643;497	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	I	1643;1624;1544;1624	ENSP00000256707:M1643I;ENSP00000411849:M1624I;ENSP00000414923:M1544I;ENSP00000418974:M1624I	ENSP00000256707:M1643I	M	-	3	0	KIDINS220	8788688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.283000	0.78640	2.861000	0.98227	0.655000	0.94253	ATG		0.493	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		68	317	0	0	0	1	0	68	317				
PRKAG3	53632	broad.mit.edu	37	2	219692564	219692564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219692564G>A	ENST00000529249.1	-	7	1127	c.812C>T	c.(811-813)aCc>aTc	p.T271I	PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I|PRKAG3_ENST00000392098.3_Intron|PRKAG3_ENST00000439262.2_Missense_Mutation_p.T246I			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	271					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	ACCCCTCCAGGTCTCAATCTT	0.552																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(736-738)aCc>aTc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							103.0	111.0	108.0					2																	219692564		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219692564G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.812C>T	2.37:g.219692564G>A	ENSP00000436068:p.Thr271Ile					PRKAG3_ENST00000392098.3_Intron|PRKAG3_ENST00000529249.1_Missense_Mutation_p.T271I|PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I	p.T246I	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	832	-		Renal(207;0.0474)	271			CBS 1.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.737C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187793	0.78789	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.91945	-2.94;-2.94;-2.94	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97857	1.0278	10	0.72032	D	0.01	-24.4549	16.1833	0.81925	0.0:0.0:1.0:0.0	.	271	Q9UGI9	AAKG3_HUMAN	I	246;87;271	ENSP00000397133:T246I;ENSP00000444536:T87I;ENSP00000436068:T271I	ENSP00000233944:T271I	T	-	2	0	PRKAG3	219400808	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.234000	0.95347	2.283000	0.76528	0.655000	0.94253	ACC		0.552	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			30	204	0	0	0	1	0	30	204				
CNOT3	4849	broad.mit.edu	37	19	54647751	54647751	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54647751C>T	ENST00000406403.1	+	5	1871	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	90					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAAATGGAACGGTTCAAAGT	0.557																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(268-270)Cgg>Tgg		CCR4-NOT transcription complex, subunit 3							82.0	83.0	83.0					19																	54647751		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54647751C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.268C>T	19.37:g.54647751C>T	ENSP00000383954:p.Arg90Trp					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W	p.R90W			O75175	CNOT3_HUMAN			5	1871	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		90					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.268C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736368	0.69189	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.53423	0.62;0.62	5.28	2.95	0.34219	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.73398	-0.3995	10	0.87932	D	0	-32.5338	11.5923	0.50953	0.5082:0.4918:0.0:0.0	.	90;90;14	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	W	90	ENSP00000221232:R90W;ENSP00000383954:R90W	ENSP00000221232:R90W	R	+	1	2	CNOT3	59339563	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.363000	0.44178	1.327000	0.45338	0.655000	0.94253	CGG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		77	441	0	0	0	1	0	77	441				
PCDHA9	9752	broad.mit.edu	37	5	140229419	140229419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229419G>A	ENST00000532602.1	+	1	2372	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D447N|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGGCCGACGTGAACGA	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1339-1341)Gac>Aac									88.0	83.0	85.0					5																	140229419		2196	4271	6467	SO:0001583	missense	0							g.chr5:140229419G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1339G>A	5.37:g.140229419G>A	ENSP00000436042:p.Asp447Asn					PCDHA9_ENST00000532602.1_Missense_Mutation_p.D447N|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.D447N	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2063	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1339G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557030	0.86231	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	D;D	0.84298	-1.83;-1.83	3.56	3.56	0.40772	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.94614	0.8264	H	0.96048	3.76	0.43107	D	0.994801	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96709	0.9524	10	0.87932	D	0	.	15.7535	0.78005	0.0:0.0:1.0:0.0	.	447;447	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	447	ENSP00000436042:D447N;ENSP00000367362:D447N	ENSP00000367362:D447N	D	+	1	0	PCDHA9	140209603	1.000000	0.71417	0.999000	0.59377	0.637000	0.38172	8.897000	0.92532	1.973000	0.57446	0.306000	0.20318	GAC		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		85	727	0	0	0	1	0	85	727				
MFN1	55669	broad.mit.edu	37	3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000263969.5_Missense_Mutation_p.A79T|MFN1_ENST00000280653.7_Missense_Mutation_p.A79T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	79	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(235-237)Gca>Aca		mitofusin 1							148.0	154.0	152.0					3																	179069810		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069810G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.235G>A	3.37:g.179069810G>A	ENSP00000420617:p.Ala79Thr					MFN1_ENST00000263969.5_Missense_Mutation_p.A79T|MFN1_ENST00000280653.7_Missense_Mutation_p.A79T	p.A79T	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	361	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		79					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.235G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095365	0.76870	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.101398	0.64402	D	0.000003	D	0.98324	0.9444	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.70227	0.968;0.938	D	0.98423	1.0578	10	0.46703	T	0.11	-9.1443	19.0061	0.92851	0.0:0.0:1.0:0.0	.	107;79	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	T	79	ENSP00000420617:A79T;ENSP00000280653:A79T;ENSP00000419134:A79T;ENSP00000263969:A79T	ENSP00000263969:A79T	A	+	1	0	MFN1	180552504	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.366000	0.97143	2.571000	0.86741	0.467000	0.42956	GCA		0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		138	702	0	0	0	1	0	138	702				
APTX	54840	broad.mit.edu	37	9	32987600	32987600	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32987600C>A	ENST00000379819.1	-	4	466	c.467G>T	c.(466-468)aGc>aTc	p.S156I	APTX_ENST00000397172.3_Intron|APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000379817.2_Missense_Mutation_p.S142I|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000436040.2_Missense_Mutation_p.S142I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I			Q7Z2E3	APTX_HUMAN	aprataxin	156					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GCCAGAGTTGCTCCCAGGTTC	0.488								Editing and processing nucleases																														ENST00000379817.2																			0				endometrium(1)|lung(1)|ovary(2)|prostate(2)	6						c.(424-426)aGc>aTc	Editing and processing nucleases	aprataxin							134.0	129.0	131.0					9																	32987600		2203	4300	6503	SO:0001583	missense	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32987600C>A	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.467G>T	9.37:g.32987600C>A	ENSP00000369147:p.Ser156Ile					APTX_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000436040.2_Missense_Mutation_p.S142I|APTX_ENST00000379819.1_Missense_Mutation_p.S156I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000397172.3_Intron|APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I	p.S142I			Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	3	621	-			156					A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37	c.425G>T		.	.	.	.	.	.	.	.	.	.	C	3.624	-0.076943	0.07184	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000473221;ENST00000477119	D;D;D;T;D;D;D;D;D;D	0.91740	-1.92;-1.92;-1.91;0.85;-1.92;-1.91;-1.91;-2.9;-1.91;-2.42	5.28	0.073	0.14389	.	0.947215	0.09089	N	0.850069	D	0.86785	0.6016	L	0.56769	1.78	0.09310	N	1	B;P;B;P	0.39748	0.013;0.5;0.007;0.686	B;B;B;B	0.33750	0.011;0.116;0.022;0.169	T	0.75348	-0.3349	10	0.38643	T	0.18	-0.0846	5.0193	0.14352	0.0:0.5212:0.1438:0.335	.	102;156;88;156	C9JZ40;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	I	156;156;142;142;156;142;142;102;156;142;102;88	ENSP00000369153:S156I;ENSP00000311547:S156I;ENSP00000369145:S142I;ENSP00000400806:S142I;ENSP00000369147:S156I;ENSP00000420263:S142I;ENSP00000419846:S142I;ENSP00000419042:S102I;ENSP00000369141:S142I;ENSP00000419020:S102I	ENSP00000311547:S156I	S	-	2	0	APTX	32977600	0.004000	0.15560	0.055000	0.19348	0.113000	0.19764	0.523000	0.22925	0.078000	0.16900	0.650000	0.86243	AGC		0.488	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		109	560	1	0	9.98844e-40	1	1.20852e-39	109	560				
NID2	22795	broad.mit.edu	37	14	52493938	52493938	+	Silent	SNP	G	G	A	rs576898863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52493938G>A	ENST00000216286.5	-	12	2654	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	885	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGTGCCCATCGCCGGCATAAC	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		20124	0.0		0.0	False		,,,				2504	0.001					ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(2653-2655)ggC>ggT		nidogen 2 (osteonidogen)							36.0	33.0	34.0					14																	52493938		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52493938G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2655C>T	14.37:g.52493938G>A						NID2_ENST00000541773.1_Intron	p.G885G	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			12	2654	-	Breast(41;0.0639)|all_epithelial(31;0.123)		885			EGF-like 4.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.2655C>T	CCDS9706.1																																																																																				0.577	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			29	115	0	0	0	1	0	29	115				
TXNDC11	51061	broad.mit.edu	37	16	11785193	11785193	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785193G>T	ENST00000356957.3	-	9	2041	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	645					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.S618C(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGTAATGAGATTCTTCTTT	0.423																																						ENST00000356957.3																			1	Substitution - Missense(1)	p.S618C(1)	lung(1)	endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1933-1935)tCt>tAt		thioredoxin domain containing 11							124.0	121.0	122.0					16																	11785193		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785193G>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1934C>A	16.37:g.11785193G>T	ENSP00000349439:p.Ser645Tyr					TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y	p.S645Y			Q6PKC3	TXD11_HUMAN			9	2041	-			645					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1934C>A		.	.	.	.	.	.	.	.	.	.	G	19.31	3.803146	0.70682	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.25749	1.78;1.78	5.81	5.81	0.92471	.	0.325259	0.31495	N	0.007559	T	0.38054	0.1026	L	0.50333	1.59	0.37626	D	0.921503	D;D	0.67145	0.978;0.996	P;P	0.60682	0.805;0.878	T	0.35674	-0.9779	10	0.59425	D	0.04	-1.5691	8.5305	0.33331	0.1623:0.0:0.8377:0.0	.	645;618	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	Y	645;618	ENSP00000349439:S645Y;ENSP00000283033:S618Y	ENSP00000283033:S618Y	S	-	2	0	TXNDC11	11692694	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	4.222000	0.58580	2.746000	0.94184	0.655000	0.94253	TCT		0.423	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		15	439	1	0	2.32078e-09	1	2.442e-09	15	439				
HIRIP3	8479	broad.mit.edu	37	16	30004620	30004620	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30004620T>C	ENST00000279392.3	-	7	2409	c.1579A>G	c.(1579-1581)Acc>Gcc	p.T527A	INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	527					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGTCCAGGGTCCGTCGGTAC	0.612																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(1579-1581)Acc>Gcc		HIRA interacting protein 3							59.0	63.0	62.0					16																	30004620		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30004620T>C	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1579A>G	16.37:g.30004620T>C	ENSP00000279392:p.Thr527Ala					HIRIP3_ENST00000564026.1_3'UTR	p.T527A	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			7	2409	-			527					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.1579A>G	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	T	1.242	-0.621104	0.03636	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.28666	1.6	5.02	1.46	0.22682	.	0.562321	0.17672	N	0.165940	T	0.13713	0.0332	N	0.12182	0.205	0.19945	N	0.999941	B	0.14012	0.009	B	0.12156	0.007	T	0.19976	-1.0289	10	0.29301	T	0.29	-4.3486	4.1826	0.10383	0.0:0.266:0.1701:0.5639	.	527	Q9BW71	HIRP3_HUMAN	A	527;214	ENSP00000279392:T527A	ENSP00000279392:T527A	T	-	1	0	HIRIP3	29912121	0.985000	0.35326	0.137000	0.22149	0.015000	0.08874	0.925000	0.28791	0.058000	0.16222	-0.256000	0.11100	ACC		0.612	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		71	271	0	0	0	1	0	71	271				
VPS13A	23230	broad.mit.edu	37	9	79867222	79867222	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79867222T>G	ENST00000360280.3	+	22	2502	c.2242T>G	c.(2242-2244)Ttg>Gtg	p.L748V	VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	748					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						GCACTTCAATTTGGAACTGTC	0.373																																						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.(2242-2244)Ttg>Gtg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							230.0	222.0	225.0					9																	79867222		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79867222T>G	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.2242T>G	9.37:g.79867222T>G	ENSP00000353422:p.Leu748Val					VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V	p.L748V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			22	2502	+			748					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2242T>G	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	1.599	-0.527033	0.04141	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.46	2.52	0.30459	.	0.372540	0.24647	N	0.036745	T	0.09686	0.0238	N	0.00760	-1.21	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.06607	-1.0817	10	0.28530	T	0.3	.	3.2004	0.06647	0.2078:0.1156:0.5499:0.1267	.	748;748;748;748	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	748	ENSP00000365821:L748V;ENSP00000365823:L748V;ENSP00000353422:L748V;ENSP00000349985:L748V	ENSP00000349985:L748V	L	+	1	2	VPS13A	79057042	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	1.953000	0.40352	0.625000	0.30304	-0.396000	0.06452	TTG		0.373	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		139	569	0	0	0	1	0	139	569				
ZSCAN12	9753	broad.mit.edu	37	6	28366005	28366005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366005G>A	ENST00000361028.1	-	2	323	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.P60S			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	60	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						GCCTCACGGGGACCAGATGTC	0.542																																						ENST00000361028.1																			0				breast(2)|endometrium(3)|urinary_tract(1)	6						c.(178-180)Ccc>Tcc		zinc finger and SCAN domain containing 12							201.0	174.0	182.0					6																	28366005		692	1591	2283	SO:0001583	missense	9753							g.chr6:28366005G>A	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.178C>T	6.37:g.28366005G>A	ENSP00000354305:p.Pro60Ser					ZSCAN12_ENST00000396827.3_Missense_Mutation_p.P60S	p.P60S							2	323	-								O43724	Missense_Mutation	SNP	ENST00000361028.1	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.957364	0.73902	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07444	3.19;3.19	3.17	3.17	0.36434	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.33591	N	0.004745	T	0.34919	0.0914	H	0.99444	4.57	0.33831	D	0.630253	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.966	T	0.58284	-0.7663	10	0.66056	D	0.02	.	10.0007	0.41927	0.0:0.0:1.0:0.0	.	60;60	A8K187;O43309	.;ZSC12_HUMAN	S	60	ENSP00000354305:P60S;ENSP00000380039:P60S	ENSP00000354305:P60S	P	-	1	0	ZSCAN12	28473984	0.956000	0.32656	1.000000	0.80357	0.972000	0.66771	3.889000	0.56212	1.761000	0.52028	0.609000	0.83330	CCC		0.542	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724		37	168	0	0	0	1	0	37	168				
SNRPE	6635	broad.mit.edu	37	1	203839004	203839004	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203839004G>A	ENST00000414487.2	+	5	268		c.e5-1		SNRPE_ENST00000367208.1_Splice_Site|SNRPE_ENST00000483099.1_Splice_Site	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E						gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTGTTGCAGGTCGGATCAT	0.333																																					Ovarian(83;324 1318 17952 32395 39614)	ENST00000414487.2																			0				breast(1)|large_intestine(2)|lung(1)|skin(1)	5						c.e5-1		small nuclear ribonucleoprotein polypeptide E							169.0	163.0	165.0					1																	203839004		2203	4300	6503	SO:0001630	splice_region_variant	6635				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr1:203839004G>A	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.224-1G>A	1.37:g.203839004G>A						SNRPE_ENST00000367208.1_Splice_Site|SNRPE_ENST00000483099.1_Splice_Site		NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	268	+	all_cancers(21;0.103)							B2R5B9|P08578|Q15498|Q5BKT2	Splice_Site	SNP	ENST00000414487.2	37		CCDS30979.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440462	0.63067	.	.	ENSG00000182004	ENST00000414487;ENST00000367208	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNRPE	202105627	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.895000	0.87343	2.861000	0.98227	0.655000	0.94253	.		0.333	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094	Intron	23	131	0	0	0	1	0	23	131				
CCDC65	85478	broad.mit.edu	37	12	49298137	49298137	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49298137A>C	ENST00000320516.4	+	1	206	c.18A>C	c.(16-18)aaA>aaC	p.K6N	CCDC65_ENST00000266984.5_Missense_Mutation_p.K6N|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	6										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAGAAAAAATGGCCAAGA	0.537											OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(16-18)aaA>aaC		coiled-coil domain containing 65							92.0	101.0	98.0					12																	49298137		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49298137A>C		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.18A>C	12.37:g.49298137A>C	ENSP00000312706:p.Lys6Asn		OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	961	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K6N	p.K6N			Q8IXS2	CCD65_HUMAN			1	245	+			6					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.18A>C	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338442	0.41398	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.62941	0.79;-0.01;0.85	5.06	1.45	0.22620	.	0.052686	0.64402	D	0.000001	T	0.61974	0.2390	M	0.71581	2.175	0.38560	D	0.949689	P	0.40731	0.728	P	0.44359	0.447	T	0.63292	-0.6670	10	0.66056	D	0.02	-17.724	8.3444	0.32263	0.6786:0.0:0.3214:0.0	.	6	Q8IXS2	CCD65_HUMAN	N	6	ENSP00000266984:K6N;ENSP00000446569:K6N;ENSP00000312706:K6N	ENSP00000266984:K6N	K	+	3	2	CCDC65	47584404	1.000000	0.71417	0.997000	0.53966	0.136000	0.21042	0.566000	0.23593	0.156000	0.19299	-0.274000	0.10170	AAA		0.537	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		131	666	0	0	0	1	0	131	666				
ABCG1	9619	broad.mit.edu	37	21	43706095	43706095	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43706095G>T	ENST00000361802.2	+	8	1109	c.964G>T	c.(964-966)Gca>Tca	p.A322S	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000398437.1_Missense_Mutation_p.A468S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	322					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCACAACCCAGCAGATTTTGG	0.522																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1402-1404)Gca>Tca		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						143.0	144.0	144.0					21																	43706095		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43706095G>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.964G>T	21.37:g.43706095G>T	ENSP00000354995:p.Ala322Ser					ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000361802.2_Missense_Mutation_p.A322S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S	p.A468S			P45844	ABCG1_HUMAN			9	1550	+			322			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1402G>T	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409956|4.409956	0.83340|0.83340	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09|.	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58424|0.58424	0.2121|0.2121	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.995;0.994;1.0;0.994;0.997;0.996|.	P;D;D;D;D;D|.	0.75484|.	0.893;0.95;0.983;0.95;0.976;0.986|.	T|T	0.56505|0.56505	-0.7968|-0.7968	9|5	.|.	.|.	.|.	-18.6548|-18.6548	16.5443|16.5443	0.84410|0.84410	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	333;333;322;322;319;324|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	S|I	324;319;322;322;333;468;430|57	ENSP00000381475:A324S;ENSP00000291524:A319S;ENSP00000381467:A322S;ENSP00000354995:A322S;ENSP00000339744:A333S;ENSP00000381464:A468S;ENSP00000343820:A430S|.	.|.	A|S	+|+	1|2	0|0	ABCG1|ABCG1	42579164|42579164	1.000000|1.000000	0.71417|0.71417	0.720000|0.720000	0.30636|0.30636	0.956000|0.956000	0.61745|0.61745	8.930000|8.930000	0.92872|0.92872	1.930000|1.930000	0.55929|0.55929	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.522	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		153	561	1	0	5.4523e-64	1	6.88634e-64	153	561				
TAGAP	117289	broad.mit.edu	37	6	159456924	159456924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456924G>A	ENST00000367066.3	-	10	2462	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	TAGAP_ENST00000326965.6_Nonsense_Mutation_p.R533*|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R711*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTACATCGTCGCACGAGACAG	0.572																																						ENST00000367066.3																			1	Substitution - Nonsense(1)	p.R711*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(2131-2133)Cga>Tga		T-cell activation RhoGTPase activating protein							68.0	62.0	64.0					6																	159456924		2203	4300	6503	SO:0001587	stop_gained	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159456924G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2131C>T	6.37:g.159456924G>A	ENSP00000356033:p.Arg711*					TAGAP_ENST00000326965.6_Nonsense_Mutation_p.R533*|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	p.R711*	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2462	-		Breast(66;0.000776)|Ovarian(120;0.0303)	711					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Nonsense_Mutation	SNP	ENST00000367066.3	37	c.2131C>T	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	41	8.771134	0.98948	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	.	.	.	5.82	-5.39	0.02664	.	0.573271	0.16820	N	0.198182	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1856	6.9636	0.24611	0.0564:0.1573:0.2893:0.497	.	.	.	.	X	711;533	.	ENSP00000322650:R533X	R	-	1	2	TAGAP	159376912	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.397000	0.20883	-0.505000	0.06568	-0.309000	0.09137	CGA		0.572	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		59	245	0	0	0	1	0	59	245				
SMYD1	150572	broad.mit.edu	37	2	88387540	88387540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88387540G>A	ENST00000419482.2	+	3	559	c.474G>A	c.(472-474)tgG>tgA	p.W158*	SMYD1_ENST00000444564.2_Nonsense_Mutation_p.W158*|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	158	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGCAGTACTGGCCGCCGCAGA	0.607																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(472-474)tgG>tgA		SET and MYND domain containing 1							121.0	84.0	97.0					2																	88387540		2203	4300	6503	SO:0001587	stop_gained	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88387540G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.474G>A	2.37:g.88387540G>A	ENSP00000393453:p.Trp158*					SMYD1_ENST00000444564.2_Nonsense_Mutation_p.W158*|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	p.W158*	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			3	559	+			158			SET.		A0AV30|A6NE13	Nonsense_Mutation	SNP	ENST00000419482.2	37	c.474G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	37	6.020194	0.97211	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5508	17.7216	0.88353	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000393453:W158X	W	+	3	0	SMYD1	88168655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.481000	0.83766	0.561000	0.74099	TGG		0.607	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		95	297	0	0	0	1	0	95	297				
EFHD2	79180	broad.mit.edu	37	1	15755181	15755181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15755181G>A	ENST00000375980.4	+	4	761	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	228						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCAGCGGAAAGCGGCCT	0.652																																						ENST00000375980.4																			0				large_intestine(1)|skin(1)	2						c.(682-684)cgG>cgA		EF-hand domain family, member D2							81.0	74.0	77.0					1																	15755181		2201	4299	6500	SO:0001819	synonymous_variant	79180					membrane raft		g.chr1:15755181G>A	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"""EF-hand domain containing"""	28670	protein-coding gene	gene with protein product	"""swiprosin-1"""		"""EF hand domain containing 2"""			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.684G>A	1.37:g.15755181G>A							p.R228R	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	761	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	228					Q5JYW9	Silent	SNP	ENST00000375980.4	37	c.684G>A	CCDS155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745074|2.745074	0.49151|0.49151	.|.	.|.	ENSG00000142634|ENSG00000142634	ENST00000375975|ENST00000445566	.|.	.|.	.|.	4.37|4.37	1.22|1.22	0.21188|0.21188	.|.	.|.	.|.	.|.	.|.	T|T	0.54029|0.54029	0.1833|0.1833	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44421|0.44421	-0.9329|-0.9329	5|4	0.87932|.	D|.	0|.	-9.0778|-9.0778	6.9481|6.9481	0.24530|0.24530	0.1814:0.4067:0.4119:0.0|0.1814:0.4067:0.4119:0.0	.|.	.|.	.|.	.|.	K|E	167|168	.|.	ENSP00000365142:E167K|.	E|G	+|+	1|2	0|0	EFHD2|EFHD2	15627768|15627768	0.103000|0.103000	0.21917|0.21917	0.999000|0.999000	0.59377|0.59377	0.867000|0.867000	0.49689|0.49689	-0.305000|-0.305000	0.08188|0.08188	0.357000|0.357000	0.24183|0.24183	0.462000|0.462000	0.41574|0.41574	GAA|GGA		0.652	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	NM_024329		6	48	0	0	0	1	0	6	48				
ZMYM5	9205	broad.mit.edu	37	13	20409711	20409711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20409711T>C	ENST00000337963.4	-	7	1421	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	386						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTAGGCATGTACTCTCCACA	0.373																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1156-1158)tAc>tGc		zinc finger, MYM-type 5							137.0	115.0	122.0					13																	20409711		1568	3582	5150	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20409711T>C	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1157A>G	13.37:g.20409711T>C	ENSP00000337034:p.Tyr386Cys						p.Y386C	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	7	1421	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	386					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1157A>G		.	.	.	.	.	.	.	.	.	.	T	20.9	4.065139	0.76187	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.27720	1.65;1.66	4.88	4.88	0.63580	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67593	-0.5631	10	0.87932	D	0	-10.2506	14.9478	0.71047	0.0:0.0:0.0:1.0	.	386	Q9UJ78	ZMYM5_HUMAN	C	386;376	ENSP00000337034:Y386C;ENSP00000445779:Y376C	ENSP00000337034:Y386C	Y	-	2	0	ZMYM5	19307711	1.000000	0.71417	0.800000	0.32199	0.950000	0.60333	7.459000	0.80802	2.176000	0.68965	0.454000	0.30748	TAC		0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		39	116	0	0	0	1	0	39	116				
GOLT1B	51026	broad.mit.edu	37	12	21659878	21659878	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21659878T>G	ENST00000229314.5	+	2	194	c.85T>G	c.(85-87)Ttt>Gtt	p.F29V	GOLT1B_ENST00000542038.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	29	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)			large_intestine(2)|lung(3)	5						AATGATTCTCTTTTTTGACAA	0.274																																						ENST00000229314.5																			0				large_intestine(2)|lung(3)	5						c.(85-87)Ttt>Gtt		golgi transport 1B							139.0	139.0	139.0					12																	21659878		2202	4296	6498	SO:0001583	missense	51026				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity	g.chr12:21659878T>G	AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"""golgi transport 1 homolog B (S. cerevisiae)"""			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.85T>G	12.37:g.21659878T>G	ENSP00000229314:p.Phe29Val					GOLT1B_ENST00000542038.1_Intron|GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V	p.F29V	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN			2	194	+			29			Phe-rich.		B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Missense_Mutation	SNP	ENST00000229314.5	37	c.85T>G	CCDS8689.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928820	0.73327	.	.	ENSG00000111711	ENST00000540141;ENST00000229314	T;T	0.39056	1.1;1.1	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.84433	2.695	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	T	0.72211	-0.4359	10	0.72032	D	0.01	-6.893	15.3788	0.74637	0.0:0.0:0.0:1.0	.	29	Q9Y3E0	GOT1B_HUMAN	V	29	ENSP00000437351:F29V;ENSP00000229314:F29V	ENSP00000229314:F29V	F	+	1	0	GOLT1B	21551145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.213000	0.71641	0.477000	0.44152	TTT		0.274	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	NM_016072		81	309	0	0	0	1	0	81	309				
STOX2	56977	broad.mit.edu	37	4	184931469	184931469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931469C>T	ENST00000308497.4	+	3	2913	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	493					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGATCCAGGTCGATGGATAAC	0.572																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(1477-1479)tCg>tTg		storkhead box 2							37.0	44.0	42.0					4																	184931469		1925	4150	6075	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931469C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1478C>T	4.37:g.184931469C>T	ENSP00000311257:p.Ser493Leu					STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	p.S493L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2913	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	493					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1478C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078638	0.76528	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.84730	-0.91;-1.89	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.968	D	0.89592	0.3828	10	0.72032	D	0.01	-15.3942	19.9142	0.97043	0.0:1.0:0.0:0.0	.	493;493	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	L	493	ENSP00000311257:S493L;ENSP00000390127:S493L	ENSP00000311257:S493L	S	+	2	0	STOX2	185168463	1.000000	0.71417	0.168000	0.22838	0.844000	0.47949	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	TCG		0.572	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		9	30	0	0	0	1	0	9	30				
KLHL41	10324	broad.mit.edu	37	2	170366805	170366805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170366805C>T	ENST00000284669.1	+	1	594	c.517C>T	c.(517-519)Caa>Taa	p.Q173*	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	173	BACK.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											GGACTTTATGCAACTGTCTCC	0.428																																						ENST00000284669.1																			0											c.(517-519)Caa>Taa		kelch-like family member 41							148.0	157.0	154.0					2																	170366805		2203	4300	6503	SO:0001587	stop_gained	10324							g.chr2:170366805C>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.517C>T	2.37:g.170366805C>T	ENSP00000284669:p.Gln173*					RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	p.Q173*	NM_006063.2	NP_006054.2					1	594	+								Q53R42	Nonsense_Mutation	SNP	ENST00000284669.1	37	c.517C>T	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122010	0.94429	.	.	ENSG00000239474	ENST00000284669	.	.	.	4.88	4.88	0.63580	.	0.051860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	18.3902	0.90479	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000284669:Q173X	Q	+	1	0	KBTBD10	170075051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.771000	0.62318	2.416000	0.81992	0.591000	0.81541	CAA		0.428	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		35	1048	0	0	0	1	0	35	1048				
CRK	1398	broad.mit.edu	37	17	1340290	1340290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1340290G>A	ENST00000300574.2	-	2	541	c.401C>T	c.(400-402)gCg>gTg	p.A134V	CRK_ENST00000398970.5_Missense_Mutation_p.A134V|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000574295.1_Splice_Site	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	134	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CACATACTCCGCCTCCTCCTG	0.463																																						ENST00000300574.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(400-402)gCg>gTg		v-crk avian sarcoma virus CT10 oncogene homolog							109.0	103.0	105.0					17																	1340290		2203	4300	6503	SO:0001583	missense	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1340290G>A	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.401C>T	17.37:g.1340290G>A	ENSP00000300574:p.Ala134Val					CRK_ENST00000574295.1_Splice_Site|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.A134V	p.A134V	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	2	541	-			134			SH3 1.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	ENST00000300574.2	37	c.401C>T	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813633	0.50527	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	T;T	0.40476	2.05;1.03	5.73	4.77	0.60923	Src homology-3 domain (2);	0.486247	0.24130	N	0.041279	T	0.21631	0.0521	N	0.10733	0.035	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.06607	-1.0817	10	0.26408	T	0.33	-10.8069	9.0027	0.36092	0.166:0.0:0.834:0.0	.	134;134	P46108-2;P46108	.;CRK_HUMAN	V	134	ENSP00000300574:A134V;ENSP00000381942:A134V	ENSP00000300574:A134V	A	-	2	0	CRK	1287040	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.324000	0.43831	1.571000	0.49722	0.655000	0.94253	GCG		0.463	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		128	445	0	0	0	1	0	128	445				
CPXCR1	53336	broad.mit.edu	37	X	88008738	88008738	+	Missense_Mutation	SNP	A	A	C	rs188296152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:88008738A>C	ENST00000276127.4	+	3	582	c.323A>C	c.(322-324)gAt>gCt	p.D108A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	108							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCTTAAATGATAGATCAAGA	0.403																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(322-324)gAt>gCt		CPX chromosome region, candidate 1							39.0	35.0	37.0					X																	88008738		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008738A>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.323A>C	X.37:g.88008738A>C	ENSP00000276127:p.Asp108Ala					CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	p.D108A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	582	+			108					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.323A>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109664	0.37242	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.38240	1.15;1.15	2.97	2.97	0.34412	.	0.445051	0.16599	N	0.207428	T	0.23532	0.0569	N	0.24115	0.695	0.09310	N	1	P	0.46784	0.884	B	0.43103	0.408	T	0.04664	-1.0935	9	.	.	.	-5.2427	6.8618	0.24072	1.0:0.0:0.0:0.0	.	108	Q8N123	CPXCR_HUMAN	A	108	ENSP00000276127:D108A;ENSP00000362203:D108A	.	D	+	2	0	CPXCR1	87895394	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	2.016000	0.40971	1.423000	0.47198	0.481000	0.45027	GAT		0.403	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		34	111	0	0	0	1	0	34	111				
CHTF18	63922	broad.mit.edu	37	16	839554	839554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:839554G>T	ENST00000262315.9	+	4	508	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000317063.6_Nonsense_Mutation_p.E346*|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	149					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGAGTCTCAGAAGCTGCTGC	0.627																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(1036-1038)Gaa>Taa		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							41.0	48.0	45.0					16																	839554		2050	4184	6234	SO:0001587	stop_gained	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:839554G>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.445G>T	16.37:g.839554G>T	ENSP00000262315:p.Glu149*					CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*|CHTF18_ENST00000262315.9_Nonsense_Mutation_p.E149*	p.E346*			Q8WVB6	CTF18_HUMAN			5	1036	+		Hepatocellular(780;0.00335)	149					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Nonsense_Mutation	SNP	ENST00000262315.9	37	c.1036G>T	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.599175|3.599175	0.66332|0.66332	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315|ENST00000426047	.|.	.|.	.|.	4.17|4.17	3.21|3.21	0.36854|0.36854	.|.	1.724250|.	0.02839|.	N|.	0.127711|.	.|T	.|0.41259	.|0.1151	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50013	.|-0.8877	.|3	0.06365|.	T|.	0.9|.	-14.3195|-14.3195	6.4388|6.4388	0.21839|0.21839	0.2197:0.0:0.7803:0.0|0.2197:0.0:0.7803:0.0	.|.	.|.	.|.	.|.	X|I	346;177;149|19	.|.	ENSP00000262315:E149X|.	E|R	+|+	1|2	0|0	CHTF18|CHTF18	779555|779555	0.022000|0.022000	0.18835|0.18835	0.009000|0.009000	0.14445|0.14445	0.002000|0.002000	0.02628|0.02628	0.817000|0.817000	0.27281|0.27281	1.093000|1.093000	0.41377|0.41377	0.549000|0.549000	0.68633|0.68633	GAA|AGA		0.627	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		72	348	1	0	5.21738e-30	1	6.11032e-30	72	348				
MOV10L1	54456	broad.mit.edu	37	22	50552182	50552182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50552182G>T	ENST00000262794.5	+	6	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	283					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAACCCTAAAGGAAGGAAGAA	0.398																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(847-849)aaG>aaT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							118.0	109.0	112.0					22																	50552182		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552182G>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.849G>T	22.37:g.50552182G>T	ENSP00000262794:p.Lys283Asn					MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N	p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	6	932	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	283					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.849G>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886462	0.51908	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86497	-1.94;-1.94;-1.53;-2.13	6.17	-3.19	0.05171	.	0.235942	0.50627	N	0.000118	D	0.83216	0.5206	M	0.64997	1.995	0.45791	D	0.99867	D;P;P;P	0.55800	0.973;0.682;0.907;0.948	P;B;B;B	0.51742	0.678;0.376;0.303;0.303	T	0.76361	-0.2987	10	0.26408	T	0.33	-14.8035	2.8453	0.05541	0.5148:0.1095:0.2674:0.1084	.	44;263;283;283	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	N	283;283;283;263	ENSP00000438978:K283N;ENSP00000262794:K283N;ENSP00000379199:K283N;ENSP00000438542:K263N	ENSP00000262794:K283N	K	+	3	2	MOV10L1	48894309	0.184000	0.23200	0.023000	0.16930	0.530000	0.34684	0.109000	0.15417	-0.827000	0.04278	0.655000	0.94253	AAG		0.398	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		74	292	1	0	4.59617e-45	1	5.6316e-45	74	292				
SYNM	23336	broad.mit.edu	37	15	99670348	99670348	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99670348G>A	ENST00000560674.1	+	4	1394	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.G594S			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	595	Interaction with DMD and UTRN.|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						GTCCCCGAAAGGTTTGCAGAC	0.557																																					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.(1780-1782)Ggt>Agt		synemin, intermediate filament protein							71.0	72.0	72.0					15																	99670348		2005	4177	6182	SO:0001583	missense	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.chr15:99670348G>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.925G>A	15.37:g.99670348G>A	ENSP00000453040:p.Gly309Ser					SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|SYNM_ENST00000560674.1_Missense_Mutation_p.G309S|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	p.G594S	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	1900	+			595			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1780G>A		.	.	.	.	.	.	.	.	.	.	G	12.06	1.823962	0.32237	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.30981	1.51;1.51	5.76	1.73	0.24493	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	B;B	0.26318	0.144;0.146	B;B	0.22152	0.032;0.038	T	0.21348	-1.0248	8	0.31617	T	0.26	.	5.3931	0.16255	0.2965:0.1425:0.5611:0.0	.	595;594	O15061;C9JIE4	SYNEM_HUMAN;.	S	594	ENSP00000336775:G594S;ENSP00000330469:G594S	ENSP00000330469:G594S	G	+	1	0	SYNM	97487871	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	0.596000	0.24044	0.341000	0.23771	0.655000	0.94253	GGT		0.557	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		50	272	0	0	0	1	0	50	272				
ADIPOR1	51094	broad.mit.edu	37	1	202912992	202912992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202912992C>A	ENST00000340990.5	-	6	997	c.699G>T	c.(697-699)caG>caT	p.Q233H	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H|ADIPOR1_ENST00000367254.3_Splice_Site	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	233					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGAGCCGTGGCTGTGGGGAGC	0.507																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(697-699)caG>caT		adiponectin receptor 1							69.0	63.0	65.0					1																	202912992		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202912992C>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.699G>T	1.37:g.202912992C>A	ENSP00000341785:p.Gln233His					ADIPOR1_ENST00000367254.3_Splice_Site|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H	p.Q233H	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		6	997	-			233					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.699G>T	CCDS1430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.152560|4.152560	0.78001|0.78001	.|.	.|.	ENSG00000159346|ENSG00000159346	ENST00000367254|ENST00000340990;ENST00000436244;ENST00000417068	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.99|5.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.25791	.|0.0628	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	.|B	.|0.25206	.|0.12	.|B	.|0.27715	.|0.082	.|T	.|0.04216	.|-1.0968	.|10	.|0.15066	.|T	.|0.55	.|.	13.5456|13.5456	0.61702|0.61702	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|233	.|Q96A54	.|ADR1_HUMAN	.|H	-1|233	.|ENSP00000341785:Q233H;ENSP00000395469:Q233H;ENSP00000402178:Q233H	.|ENSP00000341785:Q233H	.|Q	-|-	.|3	.|2	ADIPOR1|ADIPOR1	201179615|201179615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.050000|4.050000	0.57404|0.57404	1.377000|1.377000	0.46286|0.46286	0.655000|0.655000	0.94253|0.94253	.|CAG		0.507	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		40	166	1	0	5.71845e-15	1	6.23116e-15	40	166				
ACACB	32	broad.mit.edu	37	12	109674992	109674992	+	Missense_Mutation	SNP	G	G	A	rs200016239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109674992G>A	ENST00000338432.7	+	34	4588	c.4469G>A	c.(4468-4470)cGt>cAt	p.R1490H	ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1490					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGCATTTACCGTCACTTGGAA	0.552																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4468-4470)cGt>cAt		acetyl-CoA carboxylase beta	Biotin(DB00121)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	149.0	127.0	135.0		4469	4.8	1.0	12		135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACACB	NM_001093.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1490/2459	109674992	2,13004	2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109674992G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4469G>A	12.37:g.109674992G>A	ENSP00000341044:p.Arg1490His					ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H	p.R1490H			O00763	ACACB_HUMAN			34	4588	+			1490					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4469G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295524	0.95574	2.27E-4	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.75	4.75	0.60458	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95195	0.8311	10	0.87932	D	0	.	18.6363	0.91379	0.0:0.0:1.0:0.0	.	1490	O00763	ACACB_HUMAN	H	1490;1490;1420;721;156	ENSP00000341044:R1490H;ENSP00000367079:R1490H;ENSP00000367085:R1420H;ENSP00000444075:R156H	ENSP00000341044:R1490H	R	+	2	0	ACACB	108159375	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	9.798000	0.99111	2.586000	0.87340	0.555000	0.69702	CGT		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		123	506	0	0	0	1	0	123	506				
TMEM132A	54972	broad.mit.edu	37	11	60697983	60697983	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60697983A>G	ENST00000453848.2	+	5	1026	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	TMEM132A_ENST00000005286.4_Splice_Site_p.I290V			Q24JP5	T132A_HUMAN	transmembrane protein 132A	290						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCCCCAGGATCAAGGTGAA	0.592																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.e5-1		transmembrane protein 132A							135.0	143.0	140.0					11																	60697983		2203	4299	6502	SO:0001630	splice_region_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60697983A>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.867-1A>G	11.37:g.60697983A>G						TMEM132A_ENST00000453848.2_Splice_Site_p.I290_splice	p.I290_splice	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			5	1021	+			290					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Splice_Site	SNP	ENST00000453848.2	37	c.866_splice	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	A	4.923	0.171542	0.09391	.	.	ENSG00000006118	ENST00000544065;ENST00000453848;ENST00000005286	T;T;T	0.11821	2.74;2.99;2.99	5.4	5.4	0.78164	.	0.094640	0.46145	D	0.000307	T	0.11324	0.0276	N	0.24115	0.695	0.36711	D	0.88064	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.07520	-1.0768	10	0.87932	D	0	.	13.9837	0.64321	1.0:0.0:0.0:0.0	.	279;290;290	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	V	28;290;290	ENSP00000442754:I28V;ENSP00000405823:I290V;ENSP00000005286:I290V	ENSP00000005286:I290V	I	+	1	0	TMEM132A	60454559	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.396000	0.44468	2.184000	0.69523	0.533000	0.62120	ATC		0.592	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	Missense_Mutation	113	1331	0	0	0	1	0	113	1331				
PPP1R9A	55607	broad.mit.edu	37	7	94903217	94903217	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94903217C>A	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1044D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1022D|snoU13_ENST00000459298.1_RNA|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1022D|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.A1004D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTAGATGATGCCAAAGATCCC	0.383										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(3010-3012)gCc>gAc		protein phosphatase 1, regulatory subunit 9A							60.0	54.0	56.0					7																	94903217		1568	3582	5150	SO:0001627	intron_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94903217C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+5198C>A	7.37:g.94903217C>A		HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1022D|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1044D|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1022D	p.A1004D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	3227	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		789			Interacts with TGN38 (By similarity).|SAM.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.3011C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602059	0.46423	.	.	ENSG00000158528	ENST00000433360;ENST00000424654;ENST00000289495;ENST00000456331	T;T;T;T	0.17054	2.48;2.49;2.3;2.49	4.57	2.69	0.31865	.	.	.	.	.	T	0.17408	0.0418	N	0.22421	0.69	0.26777	N	0.969673	D;B;B;B	0.60160	0.987;0.22;0.02;0.006	P;B;B;B	0.55391	0.775;0.101;0.012;0.005	T	0.08911	-1.0699	9	0.12430	T	0.62	.	9.8076	0.40803	0.2765:0.5896:0.1339:0.0	.	1004;1044;1022;1022	F8W7J9;E9PDX1;D6W5R0;E9PCK6	.;.;.;.	D	1044;1022;1004;1022	ENSP00000405514:A1044D;ENSP00000411342:A1022D;ENSP00000289495:A1004D;ENSP00000402893:A1022D	ENSP00000289495:A1004D	A	+	2	0	PPP1R9A	94741153	1.000000	0.71417	0.982000	0.44146	0.521000	0.34408	1.018000	0.30002	0.795000	0.33922	0.650000	0.86243	GCC		0.383	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		8	67	1	0	1.06961e-07	1	1.11297e-07	8	67				
ZSCAN25	221785	broad.mit.edu	37	7	99227256	99227256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227256C>A	ENST00000394152.2	+	8	1575	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H416Q|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H344Q|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	416					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCAGAGACACCACCTGGAGG	0.602																																						ENST00000394152.2																			0											c.(1246-1248)caC>caA		zinc finger and SCAN domain containing 25							50.0	50.0	50.0					7																	99227256		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99227256C>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1248C>A	7.37:g.99227256C>A	ENSP00000377708:p.His416Gln					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H344Q|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H416Q|ZSCAN25_ENST00000466948.1_Intron	p.H416Q	NM_145115.2	NP_660090.2					8	1575	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.1248C>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179076	0.57692	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.00986	5.47;5.47;5.47	3.93	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000213	T	0.00998	0.0033	N	0.08118	0	0.32447	N	0.545993	P;D	0.53885	0.936;0.963	P;P	0.53185	0.72;0.624	T	0.58629	-0.7603	10	0.59425	D	0.04	-19.7878	7.1148	0.25411	0.0:0.6946:0.0:0.3054	.	344;416	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	Q	416;416;344	ENSP00000377708:H416Q;ENSP00000334800:H416Q;ENSP00000262941:H344Q	ENSP00000262941:H344Q	H	+	3	2	ZNF498	99065192	0.000000	0.05858	0.976000	0.42696	0.970000	0.65996	-1.318000	0.02705	0.305000	0.22832	0.561000	0.74099	CAC		0.602	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		53	191	1	0	1.21353e-23	1	1.38083e-23	53	191				
TENM4	26011	broad.mit.edu	37	11	78372605	78372605	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78372605G>A	ENST00000278550.7	-	33	7902	c.7440C>T	c.(7438-7440)ttC>ttT	p.F2480F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2480					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTGTAGCTGGAATCCAAAGG	0.522																																						ENST00000278550.7																			0											c.(7438-7440)ttC>ttT		teneurin transmembrane protein 4							101.0	100.0	100.0					11																	78372605		2028	4195	6223	SO:0001819	synonymous_variant	26011							g.chr11:78372605G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7440C>T	11.37:g.78372605G>A							p.F2480F	NM_001098816.2	NP_001092286.2					33	7902	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7440C>T	CCDS44688.1																																																																																				0.522	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			11	80	0	0	0	1	0	11	80				
C15orf39	56905	broad.mit.edu	37	15	75499830	75499830	+	Missense_Mutation	SNP	C	C	T	rs543541900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499830C>T	ENST00000360639.2	+	2	1761	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	481						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCTGTGCCCGGGAGTGCCA	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17621	0.0		0.0	False		,,,				2504	0.0					ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1441-1443)Cgg>Tgg		chromosome 15 open reading frame 39							45.0	50.0	48.0					15																	75499830		2197	4294	6491	SO:0001583	missense	56905							g.chr15:75499830C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1441C>T	15.37:g.75499830C>T	ENSP00000353854:p.Arg481Trp					C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W	p.R481W			Q6ZRI6	CO039_HUMAN			2	1761	+			481					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.1441C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999260	0.35226	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65916	-0.18;-0.18	5.2	0.504	0.16946	.	1.000980	0.08061	N	0.998225	T	0.42630	0.1211	N	0.08118	0	0.23966	N	0.996329	D	0.60160	0.987	B	0.43783	0.431	T	0.38779	-0.9645	10	0.72032	D	0.01	-2.613	8.491	0.33100	0.4953:0.3806:0.1241:0.0	.	481	Q6ZRI6	CO039_HUMAN	W	481	ENSP00000353854:R481W;ENSP00000378438:R481W	ENSP00000353854:R481W	R	+	1	2	C15orf39	73286883	0.005000	0.15991	0.942000	0.38095	0.602000	0.36980	0.424000	0.21330	0.533000	0.28675	0.563000	0.77884	CGG		0.637	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		40	431	0	0	0	1	0	40	431				
RUNX3	864	broad.mit.edu	37	1	25229078	25229078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25229078G>A	ENST00000308873.6	-	5	791	c.783C>T	c.(781-783)agC>agT	p.S261S	RUNX3_ENST00000399916.1_Silent_p.S275S|RUNX3_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000338888.3_Silent_p.S275S|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	261	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CTGGGAAGCGGCTCTCCGTGA	0.657																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(823-825)agC>agT		runt-related transcription factor 3							72.0	74.0	73.0					1																	25229078		2195	4294	6489	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229078G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.783C>T	1.37:g.25229078G>A						RUNX3_ENST00000338888.3_Silent_p.S275S|RUNX3_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000308873.6_Silent_p.S261S|RUNX3_ENST00000496967.1_5'UTR	p.S275S	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1263	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	261			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.825C>T	CCDS257.1																																																																																				0.657	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		71	679	0	0	0	1	0	71	679				
LSAMP	4045	broad.mit.edu	37	3	115805293	115805293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115805293C>T	ENST00000490035.2	-	2	765	c.266G>A	c.(265-267)cGc>cAc	p.R89H	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	89	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGAGAATGGCGTTTCTCCAG	0.512																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(265-267)cGc>cAc		limbic system-associated membrane protein							122.0	110.0	114.0					3																	115805293		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805293C>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.266G>A	3.37:g.115805293C>T	ENSP00000419000:p.Arg89His					LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	p.R89H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	765	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	89			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.266G>A	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164072	0.78339	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053914	0.64402	D	0.000001	T	0.58061	0.2096	N	0.14661	0.345	0.46954	D	0.999262	D;B	0.54207	0.965;0.425	P;P	0.49922	0.615;0.626	T	0.59705	-0.7404	10	0.39692	T	0.17	-10.0134	13.7134	0.62682	0.1536:0.8463:0.0:0.0	.	89;89	B2RCU8;Q13449	.;LSAMP_HUMAN	H	73;89;86;123	ENSP00000328455:R73H;ENSP00000419000:R89H;ENSP00000443429:R86H;ENSP00000418506:R123H	ENSP00000328455:R73H	R	-	2	0	LSAMP	117287983	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.955000	0.49121	2.668000	0.90789	0.555000	0.69702	CGC		0.512	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		48	203	0	0	0	1	0	48	203				
PWP2	5822	broad.mit.edu	37	21	45533719	45533719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45533719G>A	ENST00000291576.7	+	3	344	c.217G>A	c.(217-219)Gtc>Atc	p.V73I		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CGCTATCATCGTCGATGAAGG	0.587																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(217-219)Gtc>Atc		PWP2 periodic tryptophan protein homolog (yeast)							59.0	50.0	53.0					21																	45533719		2202	4300	6502	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45533719G>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.217G>A	21.37:g.45533719G>A	ENSP00000291576:p.Val73Ile						p.V73I	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	3	344	+			73					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.217G>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938033	0.34189	.	.	ENSG00000241945	ENST00000291576;ENST00000456705	T;T	0.42513	0.97;1.49	4.33	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.165612	0.40818	N	0.001018	T	0.26919	0.0659	L	0.31065	0.9	0.36215	D	0.851596	B	0.22003	0.063	B	0.12837	0.008	T	0.20140	-1.0284	10	0.25106	T	0.35	0.0094	9.1753	0.37107	0.1912:0.0:0.8088:0.0	.	73	Q15269	PWP2_HUMAN	I	73	ENSP00000291576:V73I;ENSP00000411749:V73I	ENSP00000291576:V73I	V	+	1	0	PWP2	44358147	0.940000	0.31905	0.996000	0.52242	0.039000	0.13416	1.504000	0.35726	2.148000	0.66965	0.313000	0.20887	GTC		0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		34	164	0	0	0	1	0	34	164				
TUB	7275	broad.mit.edu	37	11	8118259	8118259	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8118259A>C	ENST00000299506.2	+	6	742	c.593A>C	c.(592-594)gAg>gCg	p.E198A	TUB_ENST00000534099.1_Missense_Mutation_p.E204A|TUB_ENST00000305253.4_Missense_Mutation_p.E253A	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	198	Asp/Glu-rich.				multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTTTGACGAGGATGAGGAG	0.542																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(757-759)gAg>gCg		tubby bipartite transcription factor							86.0	78.0	81.0					11																	8118259		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8118259A>C	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.593A>C	11.37:g.8118259A>C	ENSP00000299506:p.Glu198Ala					TUB_ENST00000534099.1_Missense_Mutation_p.E204A|TUB_ENST00000299506.2_Missense_Mutation_p.E198A	p.E253A	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	7	999	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	198					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.758A>C	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980035	0.53827	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86769	-2.15;-2.17;-2.14	4.77	4.77	0.60923	.	0.098549	0.64402	D	0.000002	D	0.84759	0.5543	L	0.59436	1.845	0.80722	D	1	P;P;P	0.42941	0.74;0.524;0.794	B;B;B	0.39805	0.214;0.095;0.31	D	0.84937	0.0863	10	0.39692	T	0.17	-6.0846	14.5629	0.68153	1.0:0.0:0.0:0.0	.	204;198;253	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	A	204;253;198	ENSP00000434400:E204A;ENSP00000305426:E253A;ENSP00000299506:E198A	ENSP00000299506:E198A	E	+	2	0	TUB	8074835	1.000000	0.71417	0.987000	0.45799	0.671000	0.39405	8.654000	0.91092	1.906000	0.55180	0.402000	0.26972	GAG		0.542	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		60	274	0	0	0	1	0	60	274				
DHRS1	115817	broad.mit.edu	37	14	24768170	24768170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24768170G>A	ENST00000288111.7	-	2	419	c.143C>T	c.(142-144)gCt>gTt	p.A48V	NOP9_ENST00000267425.3_5'Flank|DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V|NOP9_ENST00000396802.3_5'Flank	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	48						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CACCTCCTGAGCAACAACGCG	0.557																																						ENST00000288111.7																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(142-144)gCt>gTt		dehydrogenase/reductase (SDR family) member 1							59.0	57.0	58.0					14																	24768170		2203	4300	6503	SO:0001583	missense	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24768170G>A	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.143C>T	14.37:g.24768170G>A	ENSP00000288111:p.Ala48Val					DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V	p.A48V	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	2	419	-			48					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Missense_Mutation	SNP	ENST00000288111.7	37	c.143C>T	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781515	0.90282	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.87179	-2.22;-2.22	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	N	0.21194	0.64	0.80722	D	1	P	0.39717	0.684	P	0.45712	0.491	D	0.84989	0.0893	10	0.62326	D	0.03	-11.7277	13.9863	0.64337	0.0:0.0:1.0:0.0	.	48	Q96LJ7	DHRS1_HUMAN	V	48	ENSP00000288111:A48V;ENSP00000380027:A48V	ENSP00000288111:A48V	A	-	2	0	DHRS1	23838010	1.000000	0.71417	0.934000	0.37439	0.792000	0.44763	6.199000	0.72112	2.675000	0.91044	0.655000	0.94253	GCT		0.557	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452		40	262	0	0	0	1	0	40	262				
KNDC1	85442	broad.mit.edu	37	10	135015230	135015230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135015230C>A	ENST00000304613.3	+	17	3236	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y|KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1072				S -> P (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGCCAGGTCCAAAGGGGTC	0.701																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3214-3216)tCc>tAc		kinase non-catalytic C-lobe domain (KIND) containing 1							17.0	21.0	20.0					10																	135015230		2198	4294	6492	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015230C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3215C>A	10.37:g.135015230C>A	ENSP00000304437:p.Ser1072Tyr					KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y|KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y	p.S1072Y			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3236	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1072	S -> P (in Ref. 1; BAD12625).				B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3215C>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832504	0.32421	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.13657	2.57;2.57;2.57	5.06	1.82	0.25136	.	1.421330	0.04761	N	0.426279	T	0.19685	0.0473	L	0.29908	0.895	0.09310	N	1	P;P;P	0.45176	0.852;0.799;0.75	P;B;B	0.52598	0.703;0.263;0.171	T	0.30504	-0.9976	10	0.59425	D	0.04	-5.3684	7.7699	0.29001	0.0:0.6446:0.0:0.3554	.	1072;1007;1072	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	Y	1072;1074;1007	ENSP00000304437:S1072Y;ENSP00000357561:S1074Y;ENSP00000357560:S1007Y	ENSP00000304437:S1072Y	S	+	2	0	KNDC1	134865220	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.016000	0.13377	0.516000	0.28340	0.313000	0.20887	TCC		0.701	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		34	119	1	0	1.61788e-16	1	1.7777e-16	34	119				
SERPINA3	12	broad.mit.edu	37	14	95090073	95090073	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95090073C>A	ENST00000467132.1	+	5	2342	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	SERPINA3_ENST00000482740.1_Silent_p.P180P|SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000393078.3_Silent_p.P398P|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	398					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAACAGGCCCTTCCTGATGA	0.498																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(1267-1269)ccC>ccA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							209.0	180.0	190.0					14																	95090073		2203	4300	6503	SO:0001819	synonymous_variant	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95090073C>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1194C>A	14.37:g.95090073C>A						SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000393078.3_Silent_p.P398P|SERPINA3_ENST00000467132.1_Silent_p.P398P|SERPINA3_ENST00000482740.1_Silent_p.P180P	p.P423P			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	8	2157	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	398					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	ENST00000467132.1	37	c.1269C>A	CCDS32150.1																																																																																				0.498	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		12	652	1	0	0.00010058	1	0.000102273	12	652				
HIST1H2AH	85235	broad.mit.edu	37	6	27115260	27115260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27115260C>T	ENST00000377459.1	+	1	400	c.353C>T	c.(352-354)cCt>cTt	p.P118L	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	118						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCTGCTGCCTAAGAAGACT	0.522																																						ENST00000377459.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(352-354)cCt>cTt		histone cluster 1, H2ah							65.0	67.0	67.0					6																	27115260		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115260C>T	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.353C>T	6.37:g.27115260C>T	ENSP00000366679:p.Pro118Leu						p.P118L	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN			1	400	+			118						Missense_Mutation	SNP	ENST00000377459.1	37	c.353C>T	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366702	0.61513	.	.	ENSG00000184825	ENST00000377459	D	0.90900	-2.75	4.06	4.06	0.47325	Histone-fold (2);Histone H2A (2);	0.000000	0.40554	N	0.001071	D	0.91300	0.7257	M	0.76170	2.325	0.58432	D	0.999992	D	0.63880	0.993	P	0.52856	0.711	D	0.92532	0.6034	10	0.87932	D	0	.	14.5447	0.68020	0.0:1.0:0.0:0.0	.	118	Q96KK5	H2A1H_HUMAN	L	118	ENSP00000366679:P118L	ENSP00000366679:P118L	P	+	2	0	HIST1H2AH	27223239	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.193000	0.77780	2.201000	0.70794	0.655000	0.94253	CCT		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		11	458	0	0	0	1	0	11	458				
SYNE1	23345	broad.mit.edu	37	6	152652132	152652132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652132G>T	ENST00000367255.5	-	78	14289	c.13688C>A	c.(13687-13689)tCt>tAt	p.S4563Y	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4563					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTTCCTAGAAACCAAATT	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13687-13689)tCt>tAt		spectrin repeat containing, nuclear envelope 1							135.0	142.0	139.0					6																	152652132		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652132G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13688C>A	6.37:g.152652132G>T	ENSP00000356224:p.Ser4563Tyr	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y	p.S4563Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14289	-		Ovarian(120;0.0955)	4563					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13688C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289456	0.40494	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.03	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.49440	0.1557	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.76575	0.988;0.956;0.956;0.98	T	0.55522	-0.8128	10	0.62326	D	0.03	.	16.7427	0.85464	0.0:0.0:0.8697:0.1303	.	4563;4563;4563;4492	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4563;4492;4563;4492	ENSP00000356224:S4563Y;ENSP00000396024:S4492Y;ENSP00000265368:S4563Y;ENSP00000390975:S4492Y	ENSP00000265368:S4563Y	S	-	2	0	SYNE1	152693825	1.000000	0.71417	0.868000	0.34077	0.993000	0.82548	8.062000	0.89475	1.544000	0.49359	0.655000	0.94253	TCT		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		177	772	1	0	2.0106e-78	1	2.56814e-78	177	772				
LAX1	54900	broad.mit.edu	37	1	203743398	203743398	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203743398T>G	ENST00000442561.2	+	5	1176	c.786T>G	c.(784-786)tcT>tcG	p.S262S	LAX1_ENST00000367217.5_Silent_p.S246S|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	262					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGGTTCTTCTCAGATCTCAA	0.488																																						ENST00000442561.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(784-786)tcT>tcG		lymphocyte transmembrane adaptor 1							73.0	74.0	74.0					1																	203743398		2203	4300	6503	SO:0001819	synonymous_variant	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743398T>G	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.786T>G	1.37:g.203743398T>G						LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.S246S	p.S262S	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1176	+	all_cancers(21;0.0915)		262					B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Silent	SNP	ENST00000442561.2	37	c.786T>G	CCDS1441.2																																																																																				0.488	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		17	192	0	0	0	1	0	17	192				
COL22A1	169044	broad.mit.edu	37	8	139825183	139825183	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139825183G>A	ENST00000303045.6	-	8	1771	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	COL22A1_ENST00000435777.1_Splice_Site_p.P442L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	442					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P442R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTGCTCACCGGACCCGAGGG	0.537										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.P442R(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.e8+1		collagen, type XXII, alpha 1							131.0	107.0	115.0					8																	139825183		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139825183G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1326+1C>T	8.37:g.139825183G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Splice_Site_p.P442_splice	p.P442_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		8	1771	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		442					B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.1326_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980324	0.53827	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.88741	-2.42;-2.34	4.72	4.72	0.59763	.	0.000000	0.42548	U	0.000687	T	0.76772	0.4034	N	0.17474	0.49	0.58432	D	0.999998	P	0.42375	0.778	B	0.29785	0.107	T	0.77915	-0.2409	9	.	.	.	.	14.8862	0.70570	0.0:0.0:1.0:0.0	.	442	Q8NFW1	COMA1_HUMAN	L	442	ENSP00000303153:P442L;ENSP00000387655:P442L	.	P	-	2	0	COL22A1	139894365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.370000	0.79589	2.203000	0.70933	0.460000	0.39030	CCG		0.537	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	7	278	0	0	0	1	0	7	278				
SLC25A2	83884	broad.mit.edu	37	5	140683056	140683056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683056G>A	ENST00000239451.4	-	1	556	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	126					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGCTCAGTGGGGCAGAGAGC	0.522																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(376-378)cCc>cTc		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						97.0	106.0	103.0					5																	140683056		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683056G>A	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.377C>T	5.37:g.140683056G>A	ENSP00000239451:p.Pro126Leu						p.P126L	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	556	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	126					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.377C>T	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333595	0.81801	.	.	ENSG00000120329	ENST00000239451	D	0.96940	-4.18	3.78	3.78	0.43462	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98607	1.0661	10	0.87932	D	0	-23.9508	13.9383	0.64039	0.0:0.0:1.0:0.0	.	126	Q9BXI2	ORNT2_HUMAN	L	126	ENSP00000239451:P126L	ENSP00000239451:P126L	P	-	2	0	SLC25A2	140663240	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.721000	0.91446	2.424000	0.82194	0.650000	0.86243	CCC		0.522	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		138	619	0	0	0	1	0	138	619				
CD38	952	broad.mit.edu	37	4	15842113	15842113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15842113C>T	ENST00000226279.3	+	7	928	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	264					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAGCTGGAATCGATTATAAGC	0.333																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(790-792)tCg>tTg		CD38 molecule							83.0	91.0	88.0					4																	15842113		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15842113C>T	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.791C>T	4.37:g.15842113C>T	ENSP00000226279:p.Ser264Leu						p.S264L	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			7	928	+			264					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.791C>T	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	C	6.998	0.554245	0.13374	.	.	ENSG00000004468	ENST00000226279	T	0.14516	2.5	5.16	-4.45	0.03546	NAD(P)-binding domain (1);	1.842590	0.02069	N	0.051380	T	0.09069	0.0224	L	0.27053	0.805	0.09310	N	1	B	0.19445	0.036	B	0.10450	0.005	T	0.22800	-1.0206	10	0.27785	T	0.31	2.133	5.4561	0.16592	0.2315:0.2642:0.0:0.5043	.	264	P28907	CD38_HUMAN	L	264	ENSP00000226279:S264L	ENSP00000226279:S264L	S	+	2	0	CD38	15451211	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.692000	0.00391	-1.538000	0.01734	-0.827000	0.03088	TCG		0.333	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		89	478	0	0	0	1	0	89	478				
HDGF	3068	broad.mit.edu	37	1	156714810	156714810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156714810G>T	ENST00000357325.5	-	3	607	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	98					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGATAGCCGGAAGCCTTGAC	0.587																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(292-294)tCc>tAc		hepatoma-derived growth factor							115.0	113.0	114.0					1																	156714810		2203	4300	6503	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156714810G>T	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.293C>A	1.37:g.156714810G>T	ENSP00000349878:p.Ser98Tyr					HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000465180.1_5'UTR	p.S98Y	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	3	607	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	98					B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.293C>A	CCDS1156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.472347|2.472347	0.43942|0.43942	.|.	.|.	ENSG00000143321|ENSG00000143321	ENST00000406805|ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.172694	.|0.40908	.|U	.|0.001000	T|T	0.73644|0.73644	0.3613|0.3613	M|M	0.72353|0.72353	2.195|2.195	0.31276|0.31276	N|N	0.691222|0.691222	.|D;P;D;D;D	.|0.61080	.|0.989;0.902;0.989;0.989;0.963	.|P;P;P;P;P	.|0.56916	.|0.809;0.761;0.809;0.809;0.703	T|T	0.74241|0.74241	-0.3729|-0.3729	6|10	0.12103|0.87932	T|D	0.63|0	-8.5412|-8.5412	14.8085|14.8085	0.69977|0.69977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;98;114;91;98	.|B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.|.;.;.;.;HDGF_HUMAN	T|Y	98|98;91;98;66;114	.|ENSP00000349878:S98Y;ENSP00000357192:S91Y;ENSP00000443120:S98Y;ENSP00000416752:S66Y;ENSP00000357189:S114Y	ENSP00000438398:P98T|ENSP00000349878:S98Y	P|S	-|-	1|2	0|0	HDGF|HDGF	154981434|154981434	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.493000|0.493000	0.33554|0.33554	5.138000|5.138000	0.64795|0.64795	2.378000|2.378000	0.81104|0.81104	0.306000|0.306000	0.20318|0.20318	CCG|TCC		0.587	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		131	458	1	0	8.08879e-62	1	1.01897e-61	131	458				
ATP2B3	492	broad.mit.edu	37	X	152811581	152811581	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152811581A>T	ENST00000349466.2	+	7	1278	c.952A>T	c.(952-954)Acc>Tcc	p.T318S	ATP2B3_ENST00000263519.4_Missense_Mutation_p.T318S|ATP2B3_ENST00000393842.1_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000370181.2_Intron			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	318					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTAGCCAGACCAAAGGTAA	0.642																																						ENST00000263519.4																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(952-954)Acc>Tcc		ATPase, Ca++ transporting, plasma membrane 3							69.0	55.0	60.0					X																	152811581		2201	4300	6501	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152811581A>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.952A>T	X.37:g.152811581A>T	ENSP00000343886:p.Thr318Ser					ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000393842.1_Intron|ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T318S|ATP2B3_ENST00000370181.2_Intron	p.T318S	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN			6	1078	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		318					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.952A>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945995	0.34377	.	.	ENSG00000067842	ENST00000349466;ENST00000359149;ENST00000263519	D;D;D	0.93247	-3.19;-3.19;-3.19	4.97	4.97	0.65823	ATPase, P-type, ATPase-associated domain (1);	1.660970	0.03744	N	0.255503	D	0.85630	0.5741	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60016	-0.7345	10	0.13470	T	0.59	-2.5058	12.7934	0.57547	1.0:0.0:0.0:0.0	.	318;318	Q16720;Q16720-2	AT2B3_HUMAN;.	S	318	ENSP00000343886:T318S;ENSP00000352062:T318S;ENSP00000263519:T318S	ENSP00000263519:T318S	T	+	1	0	ATP2B3	152464775	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.774000	0.91767	1.659000	0.50751	0.352000	0.21897	ACC		0.642	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		44	168	0	0	0	1	0	44	168				
PCDHGA9	56107	broad.mit.edu	37	5	140784352	140784352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784352C>A	ENST00000573521.1	+	1	1833	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCAAGGCCAGTGAGCCAG	0.612																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1831-1833)gcC>gcA									55.0	63.0	60.0					5																	140784352		2201	4299	6500	SO:0001819	synonymous_variant	0							g.chr5:140784352C>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1833C>A	5.37:g.140784352C>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A611A	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1833	+								A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.1833C>A	CCDS58981.1																																																																																				0.612	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		90	423	1	0	4.4782e-45	1	5.48732e-45	90	423				
ACTA1	58	broad.mit.edu	37	1	229568793	229568793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568793C>T	ENST00000366684.3	-	2	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	ACTA1_ENST00000366683.2_Missense_Mutation_p.A24T	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	24					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TCATCCCCGGCGAAGCCGGCT	0.682																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(70-72)Gcc>Acc		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						45.0	48.0	47.0					1																	229568793		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568793C>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.70G>A	1.37:g.229568793C>T	ENSP00000355645:p.Ala24Thr					ACTA1_ENST00000366683.2_Missense_Mutation_p.A24T	p.A24T	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			2	172	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	24					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.70G>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407632	0.42715	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.97186	-4.28;-4.28	4.77	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.98466	4.24	0.29136	N	0.879301	P	0.36315	0.547	P	0.44597	0.454	D	0.96399	0.9295	10	0.87932	D	0	.	12.1436	0.54012	0.0:0.9149:0.0:0.0851	.	24	P68133	ACTS_HUMAN	T	24	ENSP00000355645:A24T;ENSP00000355644:A24T	ENSP00000312351:A24T	A	-	1	0	ACTA1	227635416	1.000000	0.71417	0.982000	0.44146	0.046000	0.14306	7.638000	0.83328	1.230000	0.43646	0.655000	0.94253	GCC		0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		16	475	0	0	0	1	0	16	475				
OR8B12	219858	broad.mit.edu	37	11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T	rs369152224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCACGTAGCGGTCATACGC	0.502																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(361-363)cGc>cAc		olfactory receptor, family 8, subfamily B, member 12		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	97.0	85.0	89.0		362	3.0	1.0	11		89	0,8598		0,0,4299	no	missense	OR8B12	NM_001005195.1	29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	121/311	124413189	1,12999	2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413189C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.362G>A	11.37:g.124413189C>T	ENSP00000307159:p.Arg121His						p.R121H	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	386	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	121					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.362G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392891	0.62066	2.27E-4	0.0	ENSG00000170953	ENST00000306842	T	0.77489	-1.1	3.89	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	D	0.84138	0.5406	M	0.71871	2.18	0.39888	D	0.973737	D	0.76494	0.999	P	0.62435	0.902	D	0.86343	0.1706	10	0.87932	D	0	.	11.6445	0.51253	0.0:0.9073:0.0:0.0927	.	121	Q8NGG6	OR8BC_HUMAN	H	121	ENSP00000307159:R121H	ENSP00000307159:R121H	R	-	2	0	OR8B12	123918399	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.628000	0.61282	1.200000	0.43188	0.650000	0.86243	CGC		0.502	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			41	248	0	0	0	1	0	41	248				
GNAS	2778	broad.mit.edu	37	20	57429164	57429164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429164G>T	ENST00000371100.4	+	1	1396	c.844G>T	c.(844-846)Ggc>Tgc	p.G282C	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.G282C|GNAS_ENST00000371099.2_Missense_Mutation_p.G282C|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.S218S|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGCGCCATCGGCAGCCCATC	0.692			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(844-846)Ggc>Tgc		GNAS complex locus							14.0	15.0	15.0					20																	57429164		1818	3998	5816	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429164G>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.844G>T	20.37:g.57429164G>T	ENSP00000360141:p.Gly282Cys	TSP Lung(22;0.16)				GNAS_ENST00000306120.3_Silent_p.S218S|GNAS_ENST00000371102.4_Missense_Mutation_p.G282C|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.G282C|GNAS_ENST00000371075.3_Intron	p.G282C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1396	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.844G>T	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759862	0.15846	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.89415	-2.51;-2.51	4.03	-1.54	0.08584	.	6.087180	0.00447	N	0.000089	D	0.84933	0.5582	N	0.19112	0.55	0.19300	N	0.999974	D	0.63880	0.993	P	0.51866	0.682	T	0.74318	-0.3704	10	0.62326	D	0.03	.	4.2544	0.10710	0.4048:0.1677:0.4276:0.0	.	282	Q5JWF2	GNAS1_HUMAN	C	282	ENSP00000360141:G282C;ENSP00000360143:G282C	ENSP00000360140:G282C	G	+	1	0	GNAS	56862559	0.004000	0.15560	0.020000	0.16555	0.425000	0.31504	0.134000	0.15932	-0.215000	0.10063	-0.304000	0.09214	GGC		0.692	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		28	139	1	0	1.39806e-14	1	1.52044e-14	28	139				
FPGS	2356	broad.mit.edu	37	9	130575653	130575653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575653G>A	ENST00000373247.2	+	15	1584	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.A462T|FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|RP11-228B15.4_ENST00000439298.1_RNA	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	512					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CACCTGCAGTGCCAGCTCCCT	0.657																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(1384-1386)Gcc>Acc		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						71.0	68.0	69.0					9																	130575653		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130575653G>A		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1534G>A	9.37:g.130575653G>A	ENSP00000362344:p.Ala512Thr					FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.A512T	p.A462T	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			15	1593	+			512					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.1384G>A	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756282	0.03019	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.14266	2.95;2.93;2.52	5.03	-10.1	0.00402	Mur ligase, C-terminal (1);	0.753644	0.12795	N	0.438561	T	0.02571	0.0078	N	0.02158	-0.66	0.34854	D	0.741919	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34601	-0.9822	10	0.02654	T	1	-4.7795	7.9863	0.30213	0.1846:0.0:0.4419:0.3735	.	486;512	Q05932-4;Q05932	.;FOLC_HUMAN	T	512;486;462	ENSP00000362344:A512T;ENSP00000377309:A486T;ENSP00000362322:A462T	ENSP00000362322:A462T	A	+	1	0	FPGS	129615474	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-1.085000	0.03390	-1.977000	0.00994	-0.266000	0.10368	GCC		0.657	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			105	433	0	0	0	1	0	105	433				
FOLH1	2346	broad.mit.edu	37	11	49204705	49204705	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49204705G>T	ENST00000256999.2	-	7	1176	c.916C>A	c.(916-918)Cta>Ata	p.L306I	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.L291I|FOLH1_ENST00000356696.3_Missense_Mutation_p.L306I|FOLH1_ENST00000533034.1_Missense_Mutation_p.L291I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	306	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ACTTACTCTAGGAGCTTCTGT	0.348																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(871-873)Cta>Ata		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						71.0	69.0	70.0					11																	49204705		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49204705G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.916C>A	11.37:g.49204705G>T	ENSP00000256999:p.Leu306Ile					FOLH1_ENST00000356696.3_Missense_Mutation_p.L306I|FOLH1_ENST00000533034.1_Missense_Mutation_p.L291I|FOLH1_ENST00000256999.2_Missense_Mutation_p.L306I|FOLH1_ENST00000343844.4_5'UTR	p.L291I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			8	1239	-			306			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.871C>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.304998	0.40795	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	2.76	1.8	0.24995	.	0.000000	0.38959	N	0.001518	T	0.66982	0.2845	M	0.88775	2.98	0.80722	D	1	D;D;P;P	0.71674	0.998;0.958;0.891;0.661	D;D;P;P	0.72982	0.974;0.979;0.706;0.613	T	0.65985	-0.6035	10	0.56958	D	0.05	.	6.837	0.23941	0.1575:0.0:0.8425:0.0	.	291;291;306;306	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	I	306;306;291;291;306	ENSP00000256999:L306I;ENSP00000349129:L306I;ENSP00000344131:L291I;ENSP00000431463:L291I	ENSP00000256999:L306I	L	-	1	2	FOLH1	49161281	0.998000	0.40836	0.974000	0.42286	0.313000	0.28021	2.021000	0.41020	0.479000	0.27511	0.194000	0.17425	CTA		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		48	233	1	0	4.18559e-23	1	4.75231e-23	48	233				
ABCA3	21	broad.mit.edu	37	16	2334403	2334403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2334403G>A	ENST00000301732.5	-	25	4439	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	ABCA3_ENST00000382381.3_Missense_Mutation_p.H1189Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1247					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGAACACGTGATCCAGGGTT	0.587																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3739-3741)Cac>Tac		ATP-binding cassette, sub-family A (ABC1), member 3							144.0	137.0	140.0					16																	2334403		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2334403G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3739C>T	16.37:g.2334403G>A	ENSP00000301732:p.His1247Tyr					ABCA3_ENST00000382381.3_Missense_Mutation_p.H1189Y	p.H1247Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			25	4439	-		Ovarian(90;0.17)	1247					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.3739C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835772	0.16820	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86366	-2.11	5.31	2.05	0.26809	.	0.740809	0.13088	N	0.414772	T	0.75391	0.3843	L	0.34521	1.04	0.53005	D	0.99996	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.005	T	0.60561	-0.7239	10	0.06494	T	0.89	.	6.4674	0.21990	0.1554:0.0:0.6437:0.2009	.	1251;1247	Q4LE27;Q99758	.;ABCA3_HUMAN	Y	1247;1251	ENSP00000301732:H1247Y	ENSP00000301732:H1247Y	H	-	1	0	ABCA3	2274404	1.000000	0.71417	0.267000	0.24556	0.537000	0.34900	5.356000	0.66052	0.642000	0.30620	0.650000	0.86243	CAC		0.587	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		117	513	0	0	0	1	0	117	513				
NDST3	9348	broad.mit.edu	37	4	118975655	118975655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118975655C>T	ENST00000296499.5	+	2	993	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	197	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTATTAATCCTCATTCTCCA	0.358																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(589-591)cCt>cTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							111.0	113.0	112.0					4																	118975655		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975655C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.590C>T	4.37:g.118975655C>T	ENSP00000296499:p.Pro197Leu					NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	p.P197L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	993	+			197			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.590C>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958808	0.53400	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.48836	1.16;0.8	5.07	5.07	0.68467	.	0.052125	0.85682	D	0.000000	T	0.66674	0.2813	M	0.76574	2.34	0.80722	D	1	P;P;D	0.56746	0.863;0.788;0.977	P;P;P	0.58928	0.681;0.848;0.647	T	0.71902	-0.4452	10	0.87932	D	0	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	197;197;197	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	197	ENSP00000296499:P197L;ENSP00000396625:P197L	ENSP00000296499:P197L	P	+	2	0	NDST3	119195103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.346000	0.79739	0.655000	0.94253	CCT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		114	557	0	0	0	1	0	114	557				
FAM83H	286077	broad.mit.edu	37	8	144812742	144812742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812742C>T	ENST00000388913.3	-	2	136	c.11G>A	c.(10-12)cGc>cAc	p.R4H	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	4					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCTGAGAGCGACGGGCCAT	0.662																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(10-12)cGc>cAc		family with sequence similarity 83, member H							11.0	12.0	12.0					8																	144812742		1901	3931	5832	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144812742C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.11G>A	8.37:g.144812742C>T	ENSP00000373565:p.Arg4His						p.R4H	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	136	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		4					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.11G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	31	5.103443	0.94245	.	.	ENSG00000180921	ENST00000388913	T	0.31769	1.48	4.62	4.62	0.57501	.	0.238609	0.34314	N	0.004066	T	0.53802	0.1819	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58526	-0.7621	10	0.87932	D	0	.	16.8086	0.85712	0.0:1.0:0.0:0.0	.	4	Q6ZRV2	FA83H_HUMAN	H	4	ENSP00000373565:R4H	ENSP00000373565:R4H	R	-	2	0	FAM83H	144884730	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.719000	0.68462	2.285000	0.76669	0.478000	0.44815	CGC		0.662	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		21	125	0	0	0	1	0	21	125				
SUGP1	57794	broad.mit.edu	37	19	19391072	19391072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19391072C>A	ENST00000247001.5	-	9	1619	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	424					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCTTCCCCTTCTCATAGCCGA	0.602																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(1270-1272)gaG>gaT		SURP and G patch domain containing 1							91.0	82.0	85.0					19																	19391072		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19391072C>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1272G>T	19.37:g.19391072C>A	ENSP00000247001:p.Glu424Asp						p.E424D	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			9	1619	-			424					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1272G>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402382	0.25291	.	.	ENSG00000105705	ENST00000247001	T	0.23552	1.9	4.6	4.6	0.57074	.	0.213520	0.39146	N	0.001444	T	0.11153	0.0272	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.10450	0.005	T	0.17440	-1.0369	10	0.19590	T	0.45	.	6.7122	0.23284	0.0:0.7194:0.1826:0.098	.	424	Q8IWZ8	SUGP1_HUMAN	D	424	ENSP00000247001:E424D	ENSP00000247001:E424D	E	-	3	2	SUGP1	19252072	0.970000	0.33590	1.000000	0.80357	0.665000	0.39181	0.146000	0.16180	2.128000	0.65567	0.313000	0.20887	GAG		0.602	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		41	421	1	0	6.45866e-13	1	6.95527e-13	41	421				
TTN	7273	broad.mit.edu	37	2	179616305	179616305	+	Intron	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179616305C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.E3608*			Q8WZ42	TITIN_HUMAN	titin						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)			TTCAGAAATTCTAAATATTTC	0.393																																						ENST00000360870.5																			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.(10822-10824)Gaa>Taa		titin							130.0	134.0	133.0					2																	179616305		2199	4297	6496	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616305C>A	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.10360+1545G>T	2.37:g.179616305C>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.E3608*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11044	-			3603					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.10822G>T		.	.	.	.	.	.	.	.	.	.	C	52	18.901835	0.99912	.	.	ENSG00000155657	ENST00000360870	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.8137	0.96557	0.0:1.0:0.0:0.0	.	.	.	.	X	3608	.	ENSP00000354117:E3608X	E	-	1	0	TTN	179324550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.238000	0.43070	2.780000	0.95670	0.655000	0.94253	GAA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		151	698	1	0	1.74067e-55	1	2.17579e-55	151	698				
NDUFS1	4719	broad.mit.edu	37	2	207012502	207012502	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207012502T>C	ENST00000233190.6	-	6	661	c.395A>G	c.(394-396)gAc>gGc	p.D132G	NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	132					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCTCCCTGGTCACAAATAGG	0.363																																						ENST00000233190.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(394-396)gAc>gGc		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						104.0	98.0	100.0					2																	207012502		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207012502T>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.395A>G	2.37:g.207012502T>C	ENSP00000233190:p.Asp132Gly					NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G	p.D132G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN			6	661	-			132					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.395A>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698959	0.88830	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.76	4.76	0.60689	NADH:ubiquinone oxidoreductase, 75kDa subunit, conserved site (1);NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding (2);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93671	0.6990	10	0.87932	D	0	-15.8477	14.5723	0.68220	0.0:0.0:0.0:1.0	.	21;96;146;132	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	G	132;75;16;96;146;132;21	ENSP00000233190:D132G;ENSP00000397760:D75G;ENSP00000400976:D16G;ENSP00000409766:D96G;ENSP00000392709:D146G;ENSP00000399912:D132G;ENSP00000409689:D21G	ENSP00000233190:D132G	D	-	2	0	NDUFS1	206720747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.890000	0.54733	0.482000	0.46254	GAC		0.363	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		156	407	0	0	0	1	0	156	407				
OTUD7A	161725	broad.mit.edu	37	15	31793994	31793994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31793994G>T	ENST00000307050.4	-	8	1141	c.1049C>A	c.(1048-1050)cCt>cAt	p.P350H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.P357H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	350	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCTGTTGGGAGGGACCTCCAA	0.577																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1069-1071)cCt>cAt		OTU domain containing 7A							148.0	131.0	137.0					15																	31793994		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31793994G>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1049C>A	15.37:g.31793994G>T	ENSP00000305926:p.Pro350His					OTUD7A_ENST00000307050.4_Missense_Mutation_p.P350H	p.P357H			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	8	1162	-		all_lung(180;1.6e-09)	350			Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1070C>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676297	0.67928	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32988	1.43;1.43	4.84	3.92	0.45320	Ovarian tumour, otubain (2);	0.107611	0.64402	D	0.000004	T	0.50292	0.1607	M	0.77616	2.38	0.43835	D	0.996413	D;D	0.76494	0.998;0.999	P;D	0.65323	0.891;0.934	T	0.52540	-0.8562	10	0.72032	D	0.01	-4.3143	8.354	0.32318	0.2337:0.0:0.7663:0.0	.	357;350	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	350;357	ENSP00000305926:P350H;ENSP00000372358:P357H	ENSP00000305926:P350H	P	-	2	0	OTUD7A	29581286	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.820000	0.69250	1.135000	0.42183	0.655000	0.94253	CCT		0.577	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		98	448	1	0	1.39521e-32	1	1.64848e-32	98	448				
JAKMIP2	9832	broad.mit.edu	37	5	147030054	147030054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147030054C>T	ENST00000265272.5	-	4	1151	c.684G>A	c.(682-684)gaG>gaA	p.E228E	JAKMIP2_ENST00000333010.6_Silent_p.E186E|JAKMIP2_ENST00000507386.1_Silent_p.E228E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	228						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTGGGTCTCCAGTTCCT	0.443																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(682-684)gaG>gaA		janus kinase and microtubule interacting protein 2							102.0	99.0	100.0					5																	147030054		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147030054C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.684G>A	5.37:g.147030054C>T						JAKMIP2_ENST00000333010.6_Silent_p.E186E|JAKMIP2_ENST00000507386.1_Silent_p.E228E	p.E228E	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1151	-			228					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.684G>A	CCDS4285.1																																																																																				0.443	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		64	299	0	0	0	1	0	64	299				
PPP2R5D	5528	broad.mit.edu	37	6	42974287	42974287	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974287G>T	ENST00000485511.1	+	3	371	c.192G>T	c.(190-192)ccG>ccT	p.P64P	PPP2R5D_ENST00000472118.1_Silent_p.P56P|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Silent_p.P64P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	64					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATAGCACGCCGCCCCCCACGC	0.622																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(190-192)ccG>ccT		protein phosphatase 2, regulatory subunit B', delta							58.0	67.0	64.0					6																	42974287		2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42974287G>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.192G>T	6.37:g.42974287G>T						PPP2R5D_ENST00000394110.3_Silent_p.P64P|PPP2R5D_ENST00000472118.1_Silent_p.P56P|PPP2R5D_ENST00000461010.1_Intron	p.P64P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	371	+			64					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.192G>T	CCDS4878.1																																																																																				0.622	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		13	705	1	0	5.01169e-05	1	5.1097e-05	13	705				
FGD4	121512	broad.mit.edu	37	12	32778624	32778624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32778624C>T	ENST00000427716.2	+	14	2096	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	558					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGATGGATCCGAGATAATGA	0.353																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1672-1674)Cga>Tga		FYVE, RhoGEF and PH domain containing 4							100.0	96.0	97.0					12																	32778624		2203	4300	6503	SO:0001587	stop_gained	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32778624C>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1672C>T	12.37:g.32778624C>T	ENSP00000394487:p.Arg558*					FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*	p.R558*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			14	2096	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		558					Q6ULS2|Q8TCP6	Nonsense_Mutation	SNP	ENST00000427716.2	37	c.1672C>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	42	9.767721	0.99259	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	.	.	.	5.39	4.47	0.54385	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9663	15.1414	0.72612	0.1426:0.8574:0.0:0.0	.	.	.	.	X	695;643;558;310;465;670	.	ENSP00000266482:R310X	R	+	1	2	FGD4	32669891	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.416000	0.52707	1.202000	0.43218	0.555000	0.69702	CGA		0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		79	338	0	0	0	1	0	79	338				
PLA2G4B	100137049	broad.mit.edu	37	15	42139603	42139603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139603C>T	ENST00000452633.1	+	20	2368	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	PLA2G4B_ENST00000458483.1_Silent_p.P672P|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.P903P|JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000542534.2_Silent_p.P903P			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	672	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CGCCCAGCCCCGAAGAGCAGC	0.677																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2707-2709)ccC>ccT									80.0	85.0	83.0					15																	42139603		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42139603C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2016C>T	15.37:g.42139603C>T						JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.P672P|PLA2G4B_ENST00000452633.1_Silent_p.P672P	p.P903P	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			24	2718	+			672					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2709C>T	CCDS45241.1																																																																																				0.677	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		41	975	0	0	0	1	0	41	975				
TRAK2	66008	broad.mit.edu	37	2	202257678	202257678	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202257678G>T	ENST00000332624.3	-	10	1495	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	356					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATGAGCAGTAGGGCCAGATCT	0.368																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1066-1068)cCt>cAt		trafficking protein, kinesin binding 2							114.0	116.0	115.0					2																	202257678		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202257678G>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1067C>A	2.37:g.202257678G>T	ENSP00000328875:p.Pro356His						p.P356H	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			10	1495	-			356	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1067C>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237315	0.79800	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.13778	2.56	4.78	4.78	0.61160	.	0.067807	0.64402	D	0.000011	T	0.30947	0.0781	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	T	0.02391	-1.1166	10	0.87932	D	0	.	12.5152	0.56028	0.0:0.0:0.8338:0.1662	.	356	O60296	TRAK2_HUMAN	H	356;262	ENSP00000328875:P356H	ENSP00000328875:P356H	P	-	2	0	TRAK2	201965923	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	6.501000	0.73691	2.631000	0.89168	0.655000	0.94253	CCT		0.368	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		39	150	1	0	3.93418e-24	1	4.48831e-24	39	150				
CTSL3P	392360	broad.mit.edu	37	9	90388108	90388108	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90388108G>A	ENST00000354530.2	+	0	179					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										CATGACATCCGCAAATCTGTG	0.498																																						ENST00000354530.2																			0																				84.0	77.0	79.0					9																	90388108		2203	4300	6503			0							g.chr9:90388108G>A	AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388108G>A								NR_027917.1						0	179	+									RNA	SNP	ENST00000354530.2	37																																																																																						0.498	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917		63	227	0	0	0	1	0	63	227				
TMPRSS4	56649	broad.mit.edu	37	11	117975511	117975511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117975511C>T	ENST00000437212.3	+	5	630	c.416C>T	c.(415-417)gCc>gTc	p.A139V	TMPRSS4_ENST00000534111.1_Missense_Mutation_p.A137V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	139	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCTGAGACAGCCTGTAGGCAG	0.562																																						ENST00000534111.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(409-411)gCc>gTc		transmembrane protease, serine 4							75.0	57.0	63.0					11																	117975511		2200	4296	6496	SO:0001583	missense	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117975511C>T	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.416C>T	11.37:g.117975511C>T	ENSP00000416037:p.Ala139Val					TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.A139V	p.A137V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	5	675	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	139			SRCR.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	c.410C>T	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820641	0.50633	.	.	ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.16	5.16	0.70880	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.56097	D	0.000026	T	0.65984	0.2744	M	0.65975	2.015	0.46167	D	0.998909	P;D;D;D	0.89917	0.929;1.0;0.997;1.0	P;D;P;D	0.97110	0.591;0.997;0.788;1.0	T	0.63734	-0.6570	10	0.33940	T	0.23	.	15.5649	0.76284	0.0:1.0:0.0:0.0	.	114;99;139;137	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3	.;.;TMPS4_HUMAN;.	V	137;99;139;139;86	ENSP00000435184:A137V;ENSP00000429209:A99V;ENSP00000416037:A139V;ENSP00000430547:A139V;ENSP00000428407:A86V	ENSP00000416037:A139V	A	+	2	0	TMPRSS4	117480721	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.113000	0.64640	2.403000	0.81681	0.557000	0.71058	GCC		0.562	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		23	210	0	0	0	1	0	23	210				
GPR133	283383	broad.mit.edu	37	12	131622774	131622774	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622774C>T	ENST00000261654.5	+	24	3088	c.2529C>T	c.(2527-2529)ctC>ctT	p.L843L	GPR133_ENST00000535015.1_Splice_Site_p.L875L|GPR133_ENST00000376682.4_Splice_Site_p.L529L|GPR133_ENST00000543617.1_Splice_Site_p.L362L|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	843					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACTCGGACCTCGTGAGTGCAG	0.622																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.e24+1		G protein-coupled receptor 133							75.0	59.0	64.0					12																	131622774		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131622774C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2529+1C>T	12.37:g.131622774C>T						GPR133_ENST00000543617.1_Splice_Site_p.L362_splice|GPR133_ENST00000535015.1_Splice_Site_p.L875_splice|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Splice_Site_p.L529_splice	p.L843_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	24	3088	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		843					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Splice_Site	SNP	ENST00000261654.5	37	c.2529_splice	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	0.495	-0.873579	0.02570	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.46	-8.92	0.00774	.	.	.	.	.	T	0.47021	0.1423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	.	8.6716	0.34154	0.0:0.2184:0.1964:0.5852	.	.	.	.	L	197	.	.	S	+	2	0	GPR133	130188727	0.001000	0.12720	0.002000	0.10522	0.484000	0.33280	-1.490000	0.02304	-2.245000	0.00705	-0.258000	0.10820	TCA		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Silent	24	181	0	0	0	1	0	24	181				
ZNF845	91664	broad.mit.edu	37	19	53855957	53855957	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855957T>C	ENST00000595091.1	+	5	2248	c.2029T>C	c.(2029-2031)Tac>Cac	p.Y677H	ZNF845_ENST00000458035.1_Missense_Mutation_p.Y677H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	677				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCGGAAGTCATACCTTACATG	0.398																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2029-2031)Tac>Cac		zinc finger protein 845							60.0	58.0	59.0					19																	53855957		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855957T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2029T>C	19.37:g.53855957T>C	ENSP00000470005:p.Tyr677His					ZNF845_ENST00000595091.1_Missense_Mutation_p.Y677H	p.Y677H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2146	+			677	Missing (in Ref. 1; BAG58121).					Missense_Mutation	SNP	ENST00000595091.1	37	c.2029T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.885213	0.00532	.	.	ENSG00000213799	ENST00000458035	T	0.07444	3.19	2.22	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.03281	-0.365	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.32375	-0.9909	9	0.07813	T	0.8	.	0.9943	0.01463	0.2782:0.3475:0.136:0.2383	.	677	Q96IR2	ZN845_HUMAN	H	677	ENSP00000388311:Y677H	ENSP00000388311:Y677H	Y	+	1	0	ZNF845	58547769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.301000	0.00000	-3.227000	0.00210	-1.526000	0.00926	TAC		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		104	432	0	0	0	1	0	104	432				
CCDC88B	283234	broad.mit.edu	37	11	64111581	64111581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111581G>T	ENST00000356786.5	+	14	1612	c.1568G>T	c.(1567-1569)aGg>aTg	p.R523M	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	523						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAAGGCAAGGGATGGAGGC	0.627																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1567-1569)aGg>aTg		coiled-coil domain containing 88B							55.0	60.0	58.0					11																	64111581		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111581G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1568G>T	11.37:g.64111581G>T	ENSP00000349238:p.Arg523Met					CCDC88B_ENST00000463837.1_3'UTR	p.R523M	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1612	+			523					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1568G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	10.41	1.341344	0.24339	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23754	1.89	3.87	-2.05	0.07321	.	.	.	.	.	T	0.10208	0.0250	N	0.14661	0.345	0.09310	N	0.999999	B;P;B	0.40032	0.289;0.699;0.289	B;B;B	0.35073	0.071;0.195;0.071	T	0.13737	-1.0498	9	0.46703	T	0.11	.	1.0019	0.01479	0.2994:0.1544:0.3883:0.1578	.	523;172;523	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	M	523	ENSP00000349238:R523M	ENSP00000349238:R523M	R	+	2	0	CCDC88B	63868157	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.413000	0.21148	-0.528000	0.06366	0.456000	0.33151	AGG		0.627	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		75	454	1	0	4.03997e-35	1	4.81766e-35	75	454				
PRAMEF1	65121	broad.mit.edu	37	1	12854104	12854104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854104G>A	ENST00000332296.7	+	3	431	c.328G>A	c.(328-330)Gag>Aag	p.E110K	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	110					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.E110*(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGACGAGAATTTCTG	0.532																																						ENST00000332296.7																			2	Substitution - Nonsense(2)	p.E110*(2)	lung(2)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(328-330)Gag>Aag		PRAME family member 1							172.0	188.0	182.0					1																	12854104		2203	4300	6503	SO:0001583	missense	65121							g.chr1:12854104G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.328G>A	1.37:g.12854104G>A	ENSP00000332134:p.Glu110Lys						p.E110K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	431	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	110					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.328G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.043691	0.36085	.	.	ENSG00000116721	ENST00000332296	T	0.17370	2.28	1.7	-0.472	0.12115	.	1.946400	0.02597	N	0.100687	T	0.34978	0.0916	L	0.59912	1.85	0.09310	N	1	D	0.89917	1.0	D	0.67725	0.953	T	0.20874	-1.0262	10	0.37606	T	0.19	.	7.2625	0.26212	0.0:0.4738:0.5262:0.0	.	110	O95521	PRAM1_HUMAN	K	110	ENSP00000332134:E110K	ENSP00000332134:E110K	E	+	1	0	PRAMEF1	12776691	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.331000	0.19733	-0.115000	0.11915	-0.401000	0.06369	GAG		0.532	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		131	1932	0	0	0	1	0	131	1932				
OR2C3	81472	broad.mit.edu	37	1	247695426	247695426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247695426G>A	ENST00000366487.3	-	2	749	c.388C>T	c.(388-390)Cca>Tca	p.P130S	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAATGGAGTGGCCTGCAGATG	0.587																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(388-390)Cca>Tca		olfactory receptor, family 2, subfamily C, member 3							66.0	67.0	67.0					1																	247695426		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695426G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.388C>T	1.37:g.247695426G>A	ENSP00000355443:p.Pro130Ser					GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	p.P130S	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	749	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	130					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.388C>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751204	0.69533	.	.	ENSG00000196242	ENST00000366487	T	0.01838	4.61	3.89	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	U	0.002008	T	0.14570	0.0352	H	0.97340	3.985	0.29354	N	0.865142	D	0.59357	0.985	P	0.54856	0.762	T	0.21724	-1.0237	10	0.87932	D	0	.	10.5643	0.45163	0.0:0.0:0.8055:0.1945	.	130	Q8N628	OR2C3_HUMAN	S	130	ENSP00000355443:P130S	ENSP00000355443:P130S	P	-	1	0	OR2C3	245762049	1.000000	0.71417	0.805000	0.32314	0.930000	0.56654	6.347000	0.73004	0.925000	0.37094	0.650000	0.86243	CCA		0.587	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		27	161	0	0	0	1	0	27	161				
KCTD6	200845	broad.mit.edu	37	3	58487184	58487184	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58487184G>A	ENST00000355076.6	+	2	1522	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E|KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	180					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTTACTTTTGGACCCTGTGAT	0.438																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(538-540)gGa>gAa		potassium channel tetramerization domain containing 6							99.0	94.0	96.0					3																	58487184		2203	4300	6503	SO:0001583	missense	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58487184G>A	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.539G>A	3.37:g.58487184G>A	ENSP00000347188:p.Gly180Glu					KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E|KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E	p.G180E	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1522	+			180					B3KNI5|Q8NBS6|Q8TCA6	Missense_Mutation	SNP	ENST00000355076.6	37	c.539G>A	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104352	0.56291	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.73681	-0.77;-0.77;-0.77	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	N	0.08118	0	0.80722	D	1	B	0.18741	0.03	B	0.18263	0.021	T	0.54275	-0.8318	10	0.36615	T	0.2	.	19.5251	0.95201	0.0:0.0:1.0:0.0	.	180	Q8NC69	KCTD6_HUMAN	E	180	ENSP00000384948:G180E;ENSP00000417490:G180E;ENSP00000347188:G180E	ENSP00000347188:G180E	G	+	2	0	KCTD6	58462224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.615000	0.88500	0.591000	0.81541	GGA		0.438	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		71	300	0	0	0	1	0	71	300				
CUX2	23316	broad.mit.edu	37	12	111749924	111749924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111749924C>T	ENST00000261726.6	+	16	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	641					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCGAGAATCCGCACGCCTGA	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1921-1923)Cgc>Tgc		cut-like homeobox 2							59.0	67.0	65.0					12																	111749924		2089	4212	6301	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111749924C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1921C>T	12.37:g.111749924C>T	ENSP00000261726:p.Arg641Cys						p.R641C	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			16	2075	+			641					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1921C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.990142	0.54041	.	.	ENSG00000111249	ENST00000261726	T	0.62498	0.02	4.58	4.58	0.56647	.	0.061324	0.64402	D	0.000004	T	0.77837	0.4190	M	0.79926	2.475	0.54753	D	0.999988	D	0.89917	1.0	D	0.76071	0.987	T	0.80759	-0.1239	10	0.87932	D	0	-11.4411	11.0216	0.47722	0.3279:0.6721:0.0:0.0	.	641	O14529	CUX2_HUMAN	C	641	ENSP00000261726:R641C	ENSP00000261726:R641C	R	+	1	0	CUX2	110234307	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	3.751000	0.55165	2.115000	0.64714	0.281000	0.19383	CGC		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	153	0	0	0	1	0	8	153				
NELFA	7469	broad.mit.edu	37	4	1987506	1987506	+	Silent	SNP	C	C	T	rs151160222		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1987506C>T	ENST00000411638.2	-	7	936	c.921G>A	c.(919-921)acG>acA	p.T307T	NELFA_ENST00000542778.1_Silent_p.T172T|NELFA_ENST00000382882.3_Silent_p.T318T|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	307					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCCCTACCTGCGTGGACACCA	0.607													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15703	0.0		0.0	False		,,,				2504	0.0					ENST00000382882.3																			0											c.(952-954)acG>acA		negative elongation factor complex member A		A		1,4405		0,1,2202	44.0	41.0	42.0		954	-8.3	0.9	4	dbSNP_134	42	1,8599		0,1,4299	no	coding-synonymous	WHSC2	NM_005663.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		318/540	1987506	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7469							g.chr4:1987506C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.921G>A	4.37:g.1987506C>T						NELFA_ENST00000542778.1_Silent_p.T172T|NELFA_ENST00000411638.1_Silent_p.T307T	p.T318T	NM_005663.4	NP_005654.3					7	2071	-								A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.954G>A		.	.	.	.	.	.	.	.	.	.	c	2.770	-0.255841	0.05829	2.27E-4	1.16E-4	ENSG00000185049	ENST00000453740	.	.	.	4.14	-8.28	0.01013	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39643	-0.9604	4	.	.	.	-15.9098	2.0535	0.03576	0.2093:0.3585:0.1069:0.3253	.	.	.	.	H	208	.	.	R	-	2	0	WHSC2	1957304	0.000000	0.05858	0.860000	0.33809	0.128000	0.20619	-3.944000	0.00329	-1.642000	0.01521	-1.199000	0.01669	CGC		0.607	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		26	146	0	0	0	1	0	26	146				
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43519460C>T	ENST00000401740.1	-	4	875	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG11_ENST00000306322.7_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	256	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D258Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448																																						ENST00000401740.1																			1	Substitution - Missense(1)	p.D258Y(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(772-774)Gac>Aac		pregnancy specific beta-1-glycoprotein 11							133.0	143.0	139.0					19																	43519460		2200	4298	6498	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43519460C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.772G>A	19.37:g.43519460C>T	ENSP00000384995:p.Asp258Asn					PSG11_ENST00000306322.7_Missense_Mutation_p.D136N|PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N	p.D258N			Q9UQ72	PSG11_HUMAN			4	875	-		Prostate(69;0.00682)	258			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.772G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.632536	0.00115	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	1.13	-2.25	0.06888	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03136	0.0092	N	0.04335	-0.225	0.09310	N	1	B;B	0.23249	0.041;0.082	B;B	0.26202	0.006;0.067	T	0.36432	-0.9748	9	0.02654	T	1	.	2.2582	0.04060	0.0:0.247:0.3096:0.4434	.	136;258	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	258;136;136;258	ENSP00000319140:D258N;ENSP00000385427:D136N;ENSP00000304913:D136N;ENSP00000384995:D258N	ENSP00000304913:D136N	D	-	1	0	PSG11	48211300	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.587000	0.05780	-1.694000	0.01425	-1.271000	0.01417	GAC		0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		192	714	0	0	0	1	0	192	714				
ZWILCH	55055	broad.mit.edu	37	15	66813472	66813472	+	Missense_Mutation	SNP	G	G	A	rs373537835		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66813472G>A	ENST00000307897.5	+	7	1056	c.676G>A	c.(676-678)Gct>Act	p.A226T	ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	226					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AACTGCGATCGCTTTGGATAT	0.463																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(676-678)Gct>Act		zwilch kinetochore protein		A	THR/ALA	1,4401	825.8+/-416.5	0,1,2200	262.0	262.0	262.0		676	1.6	0.1	15		262	0,8598		0,0,4299	no	missense	ZWILCH	NM_017975.3	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	226/592	66813472	1,12999	2201	4299	6500	SO:0001583	missense	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66813472G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.676G>A	15.37:g.66813472G>A	ENSP00000311429:p.Ala226Thr					ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T|RPL4_ENST00000564517.1_Intron	p.A226T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			7	1056	+			226					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	c.676G>A	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.529569	0.00951	2.27E-4	0.0	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.35236	1.32;1.32;1.32	5.63	1.56	0.23342	.	0.391190	0.29059	N	0.013277	T	0.05456	0.0144	N	0.00119	-2.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.02654	T	1	-7.5116	4.4607	0.11665	0.5438:0.0:0.2255:0.2307	.	226	Q9H900	ZWILC_HUMAN	T	226;112;112	ENSP00000311429:A226T;ENSP00000402217:A112T;ENSP00000437749:A112T	ENSP00000311429:A226T	A	+	1	0	ZWILCH	64600526	0.116000	0.22171	0.128000	0.21923	0.053000	0.15095	1.114000	0.31196	0.079000	0.16929	-0.269000	0.10298	GCT		0.463	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		30	1521	0	0	0	1	0	30	1521				
MYH7B	57644	broad.mit.edu	37	20	33567510	33567510	+	Missense_Mutation	SNP	G	G	A	rs539864476	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33567510G>A	ENST00000262873.7	+	5	463	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	82	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AACCCGCCTCGCTTCGACTTA	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		12837	0.0		0.002	False		,,,				2504	0.0					ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(370-372)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							67.0	71.0	70.0					20																	33567510		2179	4282	6461	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33567510G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.371G>A	20.37:g.33567510G>A	ENSP00000262873:p.Arg124His						p.R124H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		5	463	+			82			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.371G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179720	0.78564	.	.	ENSG00000078814	ENST00000262873	T	0.71817	-0.6	4.31	4.31	0.51392	Myosin head, motor domain (1);	0.000000	0.38436	N	0.001682	T	0.53094	0.1775	L	0.42686	1.345	0.39505	D	0.968266	P	0.47762	0.9	B	0.34093	0.175	T	0.62048	-0.6936	10	0.87932	D	0	.	5.3674	0.16121	0.2536:0.0:0.7464:0.0	.	82	A7E2Y1	MYH7B_HUMAN	H	124	ENSP00000262873:R124H	ENSP00000262873:R124H	R	+	2	0	MYH7B	33031171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.387000	0.79785	2.383000	0.81215	0.561000	0.74099	CGC		0.632	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		96	379	0	0	0	1	0	96	379				
FAM178A	55719	broad.mit.edu	37	10	102689733	102689733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102689733C>A	ENST00000238961.4	+	8	2854	c.2312C>A	c.(2311-2313)gCt>gAt	p.A771D	FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	771						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGACAAAGTGCTGTAGAAAAA	0.279																																						ENST00000238961.3																			0											c.(2311-2313)gCt>gAt		family with sequence similarity 178, member A							40.0	45.0	43.0					10																	102689733		2189	4279	6468	SO:0001583	missense	0							g.chr10:102689733C>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2312C>A	10.37:g.102689733C>A	ENSP00000238961:p.Ala771Asp					FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	p.A771D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			8	2460	+			771					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.2312C>A	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031971	0.75504	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.33216	1.42;1.42	5.39	5.39	0.77823	.	0.219124	0.40728	N	0.001031	T	0.39036	0.1063	N	0.22421	0.69	0.38401	D	0.945651	D;D	0.62365	0.991;0.991	P;P	0.61874	0.895;0.895	T	0.10590	-1.0623	10	0.26408	T	0.33	-14.4674	17.8977	0.88893	0.0:1.0:0.0:0.0	.	771;771	Q8IX21;B1AL17	F178A_HUMAN;.	D	771	ENSP00000238961:A771D;ENSP00000359292:A771D	ENSP00000238961:A771D	A	+	2	0	FAM178A	102679723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.804000	0.96469	0.655000	0.94253	GCT		0.279	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			37	215	1	0	1.90571e-15	1	2.08261e-15	37	215				
SLC16A1	6566	broad.mit.edu	37	1	113471841	113471841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113471841G>A	ENST00000538576.1	-	2	921	c.90C>T	c.(88-90)atC>atT	p.I30I	SLC16A1_ENST00000433570.4_Silent_p.I30I|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Silent_p.I30I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	30					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AAGAGAAGCCGATGGAAATGA	0.478																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(88-90)atC>atT		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)						57.0	55.0	56.0					1																	113471841		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113471841G>A	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.90C>T	1.37:g.113471841G>A						SLC16A1_ENST00000369626.3_Silent_p.I30I|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000433570.4_Silent_p.I30I	p.I30I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	2	921	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	30					Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.90C>T	CCDS858.1																																																																																				0.478	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		15	203	0	0	0	1	0	15	203				
HIST1H4G	8369	broad.mit.edu	37	6	26247128	26247128	+	Missense_Mutation	SNP	A	A	T	rs202075617	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26247128A>T	ENST00000244537.4	-	1	131	c.78T>A	c.(76-78)aaT>aaA	p.N26K		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	26						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGCCCTGAATATTATCGCTCA	0.552																																						ENST00000244537.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(76-78)aaT>aaA		histone cluster 1, H4g							55.0	51.0	52.0					6																	26247128		2203	4300	6503	SO:0001583	missense	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26247128A>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.78T>A	6.37:g.26247128A>T	ENSP00000244537:p.Asn26Lys						p.N26K	NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN			1	131	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	26						Missense_Mutation	SNP	ENST00000244537.4	37	c.78T>A	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	8.463	0.855664	0.17106	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.2	0.309	0.15820	Histone-fold (2);	.	.	.	.	T	0.40862	0.1134	.	.	.	0.31287	N	0.689934	P	0.50443	0.935	P	0.53760	0.734	T	0.35051	-0.9804	7	0.87932	D	0	.	10.5532	0.45101	0.1981:0.0:0.8019:0.0	.	26	Q99525	H4G_HUMAN	K	26	.	ENSP00000244537:N26K	N	-	3	2	HIST1H4G	26355107	1.000000	0.71417	0.995000	0.50966	0.005000	0.04900	2.112000	0.41892	0.193000	0.20303	-1.877000	0.00547	AAT		0.552	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		50	203	0	0	0	1	0	50	203				
TUBA3E	112714	broad.mit.edu	37	2	130951874	130951874	+	Missense_Mutation	SNP	C	C	T	rs550511590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951874C>T	ENST00000312988.7	-	4	641	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	181					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGCTCCACCACGGCTGTGGAG	0.537													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16963	0.0		0.0	False		,,,				2504	0.0					ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(541-543)Gtg>Atg		tubulin, alpha 3e							90.0	98.0	95.0					2																	130951874		2194	4258	6452	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951874C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.541G>A	2.37:g.130951874C>T	ENSP00000318197:p.Val181Met						p.V181M	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	641	-	Colorectal(110;0.1)		181						Missense_Mutation	SNP	ENST00000312988.7	37	c.541G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.907743	0.33721	.	.	ENSG00000152086	ENST00000312988	T	0.71222	-0.55	2.57	1.67	0.24075	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.44902	U	0.000419	T	0.81418	0.4818	M	0.82433	2.59	0.40756	D	0.982968	D	0.76494	0.999	D	0.78314	0.991	T	0.80360	-0.1415	10	0.87932	D	0	.	7.3071	0.26453	0.0:0.8546:0.0:0.1454	.	181	Q6PEY2	TBA3E_HUMAN	M	181	ENSP00000318197:V181M	ENSP00000318197:V181M	V	-	1	0	TUBA3E	130668344	1.000000	0.71417	0.996000	0.52242	0.794000	0.44872	4.911000	0.63328	0.414000	0.25790	0.449000	0.29647	GTG		0.537	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		12	566	0	0	0	1	0	12	566				
CAPN3	825	broad.mit.edu	37	15	42693957	42693957	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42693957G>A	ENST00000397163.3	+	11	1692	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K	CAPN3_ENST00000357568.3_Silent_p.K491K|CAPN3_ENST00000318023.7_Silent_p.K491K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Silent_p.K443K|CAPN3_ENST00000356316.3_Silent_p.K404K|CAPN3_ENST00000397200.4_5'Flank	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	491	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACCGGCGGAAGGACCGGAAGC	0.577																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1471-1473)aaG>aaA		calpain 3, (p94)							71.0	61.0	64.0					15																	42693957		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42693957G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1473G>A	15.37:g.42693957G>A						CAPN3_ENST00000356316.3_Silent_p.K404K|CAPN3_ENST00000357568.3_Silent_p.K491K|CAPN3_ENST00000318023.7_Silent_p.K491K|CAPN3_ENST00000349748.3_Silent_p.K443K|RP11-164J13.1_ENST00000495723.1_RNA	p.K491K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	11	1692	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	491			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.1473G>A	CCDS45245.1																																																																																				0.577	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			39	139	0	0	0	1	0	39	139				
GYLTL1B	120071	broad.mit.edu	37	11	45948141	45948141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45948141C>A	ENST00000531526.1	+	9	1268	c.1157C>A	c.(1156-1158)gCt>gAt	p.A386D	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	386					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCACCTGGTGCTGAGCAGGTG	0.592																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1156-1158)gCt>gAt		glycosyltransferase-like 1B							60.0	62.0	61.0					11																	45948141		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45948141C>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1157C>A	11.37:g.45948141C>A	ENSP00000432869:p.Ala386Asp					GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D	p.A386D	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	9	1268	+			386					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.1157C>A	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394301	0.25205	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.82893	0.92;0.93;0.93;-1.66;0.93;0.92	5.45	4.53	0.55603	.	0.349496	0.30686	N	0.009081	T	0.70202	0.3197	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29955	0.129;0.263;0.138	B;B;B	0.26614	0.071;0.045;0.065	T	0.57568	-0.7789	10	0.26408	T	0.33	-3.7422	8.1499	0.31134	0.0:0.7569:0.1576:0.0854	.	355;355;386	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	D	355;386;386;113;386;355;47	ENSP00000431932:A355D;ENSP00000432869:A386D;ENSP00000385235:A386D;ENSP00000374618:A113D;ENSP00000324570:A386D;ENSP00000445044:A355D	ENSP00000324570:A386D	A	+	2	0	GYLTL1B	45904717	0.001000	0.12720	0.159000	0.22649	0.527000	0.34593	0.440000	0.21592	1.284000	0.44531	0.561000	0.74099	GCT		0.592	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		49	216	1	0	1.51926e-22	1	1.72e-22	49	216				
OR4N4	283694	broad.mit.edu	37	15	22383287	22383287	+	Missense_Mutation	SNP	C	C	A	rs376814938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22383287C>A	ENST00000328795.4	+	1	906	c.815C>A	c.(814-816)tCt>tAt	p.S272Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S272Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGATGGTTTCTCTCTTTCAC	0.418																																						ENST00000328795.4																			1	Substitution - Missense(1)	p.S272Y(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(814-816)tCt>tAt		olfactory receptor, family 4, subfamily N, member 4		C	TYR/SER	1,4377		0,1,2188	197.0	176.0	183.0		815	3.2	1.0	15		183	0,8522		0,0,4261	no	missense	OR4N4	NM_001005241.2	144	0,1,6449	AA,AC,CC		0.0,0.0228,0.0078	probably-damaging	272/317	22383287	1,12899	2189	4261	6450	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383287C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.815C>A	15.37:g.22383287C>A	ENSP00000332500:p.Ser272Tyr					RP11-69H14.6_ENST00000558896.1_RNA	p.S272Y	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	906	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	272					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.815C>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	7.985	0.752023	0.15778	2.28E-4	0.0	ENSG00000183706	ENST00000328795	T	0.00274	8.35	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.153130	0.30979	N	0.008497	T	0.01029	0.0034	H	0.96633	3.855	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.11348	-1.0591	10	0.87932	D	0	-9.0549	12.2303	0.54484	0.0:1.0:0.0:0.0	.	272	Q8N0Y3	OR4N4_HUMAN	Y	272	ENSP00000332500:S272Y	ENSP00000332500:S272Y	S	+	2	0	OR4N4	19884651	0.000000	0.05858	0.997000	0.53966	0.038000	0.13279	0.779000	0.26746	1.784000	0.52394	0.404000	0.27445	TCT		0.418	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			118	527	1	0	4.08981e-53	1	5.09396e-53	118	527				
MYO15A	51168	broad.mit.edu	37	17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T	rs377125285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9880-9882)Cgg>Tgg		myosin XVA		C	TRP/ARG	1,4229		0,1,2114	113.0	124.0	120.0		9880	5.5	1.0	17		120	0,8470		0,0,4235	no	missense	MYO15A	NM_016239.3	101	0,1,6349	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	3294/3531	18069767	1,12699	2115	4235	6350	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18069767C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9880C>T	17.37:g.18069767C>T	ENSP00000205890:p.Arg3294Trp					MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	p.R3294W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			61	10218	+	all_neural(463;0.228)		3294			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9880C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493420	0.44352	2.36E-4	0.0	ENSG00000091536	ENST00000205890;ENST00000418233	D	0.89617	-2.54	5.48	5.48	0.80851	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.94215	0.8143	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.999;0.876;0.999;0.991	D	0.94418	0.7638	9	0.62326	D	0.03	.	14.21	0.65759	0.1494:0.8506:0.0:0.0	.	283;558;3294;301	B4DLV9;B4DFC7;Q9UKN7;Q8TCK0	.;.;MYO15_HUMAN;.	W	3294;283	ENSP00000205890:R3294W	ENSP00000205890:R3294W	R	+	1	2	MYO15A	18010492	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.548000	0.53670	2.564000	0.86499	0.491000	0.48974	CGG		0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		100	521	0	0	0	1	0	100	521				
EIF5AL1	143244	broad.mit.edu	37	10	81272742	81272742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81272742C>T	ENST00000520547.2	+	1	386	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	113					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGAGGACCTTCGTCTCCCTGA	0.552																																						ENST00000520547.2																			0				endometrium(1)	1						c.(337-339)Cgt>Tgt		eukaryotic translation initiation factor 5A-like 1							62.0	74.0	70.0					10																	81272742		2199	4295	6494	SO:0001583	missense	143244				mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity	g.chr10:81272742C>T		CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 5A pseudogene 1"""	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.337C>T	10.37:g.81272742C>T	ENSP00000430706:p.Arg113Cys						p.R113C	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		1	386	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		113						Missense_Mutation	SNP	ENST00000520547.2	37	c.337C>T	CCDS53546.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265789	0.23136	.	.	ENSG00000253626	ENST00000520547	T	0.47177	0.85	1.02	-2.03	0.07365	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.34106	0.0886	L	0.53617	1.68	0.29802	N	0.832317	B	0.21520	0.057	B	0.17098	0.017	T	0.39522	-0.9610	9	0.59425	D	0.04	.	0.3345	0.00324	0.2341:0.3108:0.234:0.2211	.	113	Q6IS14	IF5AL_HUMAN	C	113	ENSP00000430706:R113C	ENSP00000430706:R113C	R	+	1	0	EIF5AL1	80942748	0.013000	0.17824	0.870000	0.34147	0.417000	0.31264	-0.061000	0.11693	-0.418000	0.07450	-0.604000	0.04097	CGT		0.552	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	NM_001099692		45	586	0	0	0	1	0	45	586				
CDK18	5129	broad.mit.edu	37	1	205492385	205492385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205492385C>A	ENST00000360066.2	+	2	391	c.90C>A	c.(88-90)ttC>ttA	p.F30L	CDK18_ENST00000429964.2_Missense_Mutation_p.F30L|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	28							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGGCTGAATTCACGGAGCAAT	0.552																																					Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(88-90)ttC>ttA		cyclin-dependent kinase 18							68.0	72.0	71.0					1																	205492385		2203	4300	6503	SO:0001583	missense	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205492385C>A	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.90C>A	1.37:g.205492385C>A	ENSP00000353176:p.Phe30Leu					CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Missense_Mutation_p.F30L|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L	p.F30L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			2	391	+			28					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	c.90C>A	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592578	0.28357	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.70516	-0.29;-0.49;-0.29;1.97;1.65	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	N	0.16307	0.4	0.54753	D	0.999988	B;B	0.13145	0.006;0.007	B;B	0.15870	0.014;0.013	T	0.48917	-0.8992	10	0.06625	T	0.88	-39.0784	15.664	0.77213	0.0:1.0:0.0:0.0	.	30;30	Q07002-3;Q07002-2	.;.	L	30	ENSP00000399082:F30L;ENSP00000423665:F30L;ENSP00000353176:F30L;ENSP00000397831:F30L;ENSP00000391324:F30L	ENSP00000353176:F30L	F	+	3	2	CDK18	203759008	1.000000	0.71417	0.997000	0.53966	0.422000	0.31414	2.510000	0.45468	2.728000	0.93425	0.655000	0.94253	TTC		0.552	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		139	338	1	0	1.44621e-61	1	1.82128e-61	139	338				
MRPL40	64976	broad.mit.edu	37	22	19422398	19422398	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19422398A>C	ENST00000333130.3	+	3	930	c.277A>C	c.(277-279)Aag>Cag	p.K93Q	MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	93					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TACCCCTCTAAAGTTCTTGGA	0.403																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(277-279)Aag>Cag		mitochondrial ribosomal protein L40							76.0	82.0	80.0					22																	19422398		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19422398A>C	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.277A>C	22.37:g.19422398A>C	ENSP00000333401:p.Lys93Gln					HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron	p.K93Q	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN			3	930	+	Colorectal(54;0.0993)		93					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.277A>C	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955592	0.34471	.	.	ENSG00000185608	ENST00000333130	T	0.46063	0.88	4.59	3.56	0.40772	.	0.159814	0.53938	D	0.000042	T	0.40909	0.1136	M	0.73430	2.235	0.48632	D	0.999688	B	0.12630	0.006	B	0.16722	0.016	T	0.35871	-0.9771	10	0.54805	T	0.06	-13.9279	7.116	0.25416	0.7748:0.1472:0.078:0.0	.	93	Q9NQ50	RM40_HUMAN	Q	93	ENSP00000333401:K93Q	ENSP00000333401:K93Q	K	+	1	0	MRPL40	17802398	0.999000	0.42202	0.543000	0.28128	0.842000	0.47809	4.238000	0.58688	0.906000	0.36621	0.460000	0.39030	AAG		0.403	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		16	425	0	0	0	1	0	16	425				
TRMT61B	55006	broad.mit.edu	37	2	29092664	29092664	+	Missense_Mutation	SNP	C	C	A	rs140115429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092664C>A	ENST00000306108.5	-	1	503	c.480G>T	c.(478-480)gaG>gaT	p.E160D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	160					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCTCCCCAGTCTCAGCTAAAA	0.498																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(478-480)gaG>gaT		tRNA methyltransferase 61 homolog B (S. cerevisiae)		C	ASP/GLU	0,4406		0,0,2203	44.0	48.0	47.0		480	4.3	0.1	2	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRMT61B	NM_017910.3	45	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	possibly-damaging	160/478	29092664	2,13004	2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092664C>A	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.480G>T	2.37:g.29092664C>A	ENSP00000302801:p.Glu160Asp						p.E160D	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	503	-			160					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.480G>T	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230419	0.58777	0.0	2.33E-4	ENSG00000171103	ENST00000306108	T	0.22134	1.97	5.24	4.35	0.52113	.	0.318671	0.27764	N	0.017947	T	0.16811	0.0404	N	0.10707	0.03	0.35303	D	0.783195	B;P	0.48589	0.002;0.912	B;P	0.49708	0.008;0.62	T	0.21109	-1.0255	10	0.37606	T	0.19	.	14.0724	0.64868	0.0:0.9259:0.0:0.0741	.	160;160	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	160	ENSP00000302801:E160D	ENSP00000302801:E160D	E	-	3	2	TRMT61B	28946168	0.335000	0.24748	0.063000	0.19743	0.290000	0.27261	1.435000	0.34969	2.459000	0.83118	0.462000	0.41574	GAG		0.498	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		53	246	1	0	1.91693e-13	1	2.0699e-13	53	246				
KLHL17	339451	broad.mit.edu	37	1	897248	897248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:897248C>T	ENST00000338591.3	+	4	639	c.532C>T	c.(532-534)Cga>Tga	p.R178*	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	178					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAATGGCGTCCGAGACGCTTG	0.647																																						ENST00000338591.3																			0				central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(532-534)Cga>Tga		kelch-like family member 17							53.0	56.0	55.0					1																	897248		2203	4300	6503	SO:0001587	stop_gained	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:897248C>T	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.532C>T	1.37:g.897248C>T	ENSP00000343930:p.Arg178*						p.R178*	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	639	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	178					Q5SV94	Nonsense_Mutation	SNP	ENST00000338591.3	37	c.532C>T	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.236927	0.97403	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	.	.	.	5.16	2.01	0.26516	.	0.060359	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2287	0.31584	0.3856:0.5422:0.0:0.0722	.	.	.	.	X	178;54	.	ENSP00000343930:R178X	R	+	1	2	KLHL17	887111	1.000000	0.71417	0.639000	0.29394	0.925000	0.55904	1.054000	0.30455	0.657000	0.30906	0.561000	0.74099	CGA		0.647	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		33	307	0	0	0	1	0	33	307				
MLXIP	22877	broad.mit.edu	37	12	122622746	122622746	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122622746G>A	ENST00000319080.7	+	13	2292	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	MLXIP_ENST00000538698.1_Silent_p.R327R					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGCAGAACCGGCAGATGAAGC	0.552																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(2158-2160)cgG>cgA		MLX interacting protein							29.0	31.0	30.0					12																	122622746		2175	4270	6445	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122622746G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2160G>A	12.37:g.122622746G>A						MLXIP_ENST00000538698.1_Silent_p.R327R	p.R720R			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	13	2292	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	720						Silent	SNP	ENST00000319080.7	37	c.2160G>A		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329769	0.24167	.	.	ENSG00000175727	ENST00000542417	.	.	.	4.4	2.52	0.30459	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	-16.2681	4.6094	0.12395	0.2854:0.1654:0.5492:0.0	.	.	.	.	D	56	.	.	G	+	2	0	MLXIP	121188699	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.251000	0.18257	0.835000	0.34877	0.561000	0.74099	GGC		0.552	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		13	51	0	0	0	1	0	13	51				
INF2	64423	broad.mit.edu	37	14	105177986	105177986	+	Silent	SNP	C	C	T	rs543495305		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105177986C>T	ENST00000392634.4	+	16	2551	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	INF2_ENST00000330634.7_Silent_p.P813P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	813	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGAGCCACCCCGACCTCCTGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15515	0.0		0.0	False		,,,				2504	0.0					ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(2437-2439)ccC>ccT		inverted formin, FH2 and WH2 domain containing							53.0	69.0	64.0					14																	105177986		2051	4192	6243	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105177986C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2439C>T	14.37:g.105177986C>T						INF2_ENST00000330634.7_Silent_p.P813P	p.P813P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	16	2551	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	813			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.2439C>T	CCDS9989.2																																																																																				0.647	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		32	193	0	0	0	1	0	32	193				
NFATC1	4772	broad.mit.edu	37	18	77246678	77246678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77246678G>A	ENST00000427363.2	+	9	2523	c.2523G>A	c.(2521-2523)tcG>tcA	p.S841S	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000545796.1_Silent_p.S369S|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000329101.4_Silent_p.S828S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	841	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TCGAACACTCGCTCTGCCCCA	0.751																																					GBM(151;1210 2593 28719 45011)	ENST00000329101.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2482-2484)tcG>tcA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							21.0	21.0	21.0					18																	77246678		2180	4277	6457	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246678G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2523G>A	18.37:g.77246678G>A						NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Silent_p.S369S|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Silent_p.S841S	p.S828S	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	9	2540	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	841			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.2484G>A																																																																																					0.751	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		32	148	0	0	0	1	0	32	148				
SERPINA9	327657	broad.mit.edu	37	14	94933482	94933482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94933482C>T	ENST00000380365.3	-	3	944	c.866G>A	c.(865-867)aGa>aAa	p.R289K	SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000337425.5_Missense_Mutation_p.R307K			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	289					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCAGTGTTCTGGCTGACAA	0.537																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(919-921)aGa>aAa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							113.0	108.0	110.0					14																	94933482		2001	4197	6198	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94933482C>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.866G>A	14.37:g.94933482C>T	ENSP00000369723:p.Arg289Lys					SERPINA9_ENST00000380365.3_Missense_Mutation_p.R289K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K	p.R307K	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	3	994	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	289					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.920G>A		.	.	.	.	.	.	.	.	.	.	C	10.05	1.243737	0.22796	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	3.89	1.83	0.25207	Serpin domain (3);	0.695785	0.13348	N	0.394612	T	0.63827	0.2544	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.15141	0.001;0.0;0.0;0.0;0.012	B;B;B;B;B	0.14023	0.007;0.004;0.001;0.003;0.01	T	0.49351	-0.8949	10	0.25106	T	0.35	.	4.7624	0.13115	0.0:0.4258:0.4239:0.1503	.	271;289;209;307;207	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	K	209;207;158;307;289;271	ENSP00000414092:R209K;ENSP00000298845:R207K;ENSP00000409012:R158K;ENSP00000337133:R307K;ENSP00000369723:R289K;ENSP00000445476:R271K	ENSP00000298845:R207K	R	-	2	0	SERPINA9	94003235	0.000000	0.05858	0.055000	0.19348	0.965000	0.64279	0.080000	0.14802	0.972000	0.38314	0.462000	0.41574	AGA		0.537	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		59	278	0	0	0	1	0	59	278				
ZC3H15	55854	broad.mit.edu	37	2	187370212	187370212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187370212C>T	ENST00000337859.6	+	7	979	c.752C>T	c.(751-753)aCt>aTt	p.T251I	ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I|AC018867.2_ENST00000595956.1_5'Flank	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	251	Required for interaction with DRG1. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ACCAAAATCACTCTAGAATCT	0.368																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(751-753)aCt>aTt		zinc finger CCCH-type containing 15							81.0	80.0	80.0					2																	187370212		1834	4088	5922	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187370212C>T		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.752C>T	2.37:g.187370212C>T	ENSP00000338788:p.Thr251Ile					ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I	p.T251I	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		7	979	+			251			Required for interaction with DRG1 (By similarity).		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.752C>T	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096806	0.94197	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.58797	0.31	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84774	0.0769	10	0.87932	D	0	-7.9277	20.8794	0.99867	0.0:1.0:0.0:0.0	.	251	Q8WU90	ZC3HF_HUMAN	I	251;46;251	ENSP00000338788:T251I	ENSP00000338788:T251I	T	+	2	0	ZC3H15	187078457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.941000	0.99782	0.655000	0.94253	ACT		0.368	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		71	253	0	0	0	1	0	71	253				
DDX60L	91351	broad.mit.edu	37	4	169327215	169327215	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327215C>T	ENST00000511577.1	-	24	3346	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	DDX60L_ENST00000260184.7_Silent_p.E1033E|DDX60L_ENST00000505890.1_Silent_p.E1033E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1033							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAATGAATTCCTCTGGACACA	0.289																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3097-3099)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							67.0	59.0	61.0					4																	169327215		1807	4084	5891	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169327215C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3099G>A	4.37:g.169327215C>T						DDX60L_ENST00000260184.7_Silent_p.E1033E|DDX60L_ENST00000505890.1_Silent_p.E1033E	p.E1033E			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	24	3346	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1033					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.3099G>A																																																																																					0.289	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		19	102	0	0	0	1	0	19	102				
TUBB1	81027	broad.mit.edu	37	20	57598897	57598897	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598897C>A	ENST00000217133.1	+	4	684	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	139					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGTCCACTCCCTGGGCGGGGG	0.592																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(415-417)Ctg>Atg		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						82.0	92.0	88.0					20																	57598897		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598897C>A	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.415C>A	20.37:g.57598897C>A	ENSP00000217133:p.Leu139Met						p.L139M	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	684	+	all_lung(29;0.00711)		139						Missense_Mutation	SNP	ENST00000217133.1	37	c.415C>A	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669664	0.67814	.	.	ENSG00000101162	ENST00000217133	T	0.73047	-0.71	5.39	3.44	0.39384	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.85945	2.785	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.85763	0.1350	10	0.87932	D	0	.	11.2654	0.49108	0.0:0.8489:0.0:0.1511	.	139	Q9H4B7	TBB1_HUMAN	M	139	ENSP00000217133:L139M	ENSP00000217133:L139M	L	+	1	2	TUBB1	57032292	1.000000	0.71417	0.895000	0.35142	0.967000	0.64934	4.973000	0.63763	1.290000	0.44636	-0.136000	0.14681	CTG		0.592	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		144	565	1	0	6.24756e-60	1	7.85099e-60	144	565				
USP8	9101	broad.mit.edu	37	15	50788095	50788095	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50788095C>T	ENST00000396444.3	+	17	3047	c.2709C>T	c.(2707-2709)gaC>gaT	p.D903D	USP8_ENST00000307179.4_Silent_p.D903D|USP8_ENST00000433963.1_Silent_p.D903D|USP8_ENST00000425032.3_Silent_p.D797D|RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	903	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTCGATGACTTTAAAGCTG	0.343																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2707-2709)gaC>gaT		ubiquitin specific peptidase 8							42.0	38.0	40.0					15																	50788095		2196	4285	6481	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50788095C>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2709C>T	15.37:g.50788095C>T						USP8_ENST00000307179.4_Silent_p.D903D|USP8_ENST00000396444.3_Silent_p.D903D|USP8_ENST00000425032.3_Silent_p.D797D|RP11-562A8.5_ENST00000560159.1_lincRNA	p.D903D	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3209	+			903					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2709C>T	CCDS10137.1																																																																																				0.343	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		45	227	0	0	0	1	0	45	227				
AGA	175	broad.mit.edu	37	4	178358577	178358577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178358577G>A	ENST00000264595.2	-	5	731	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	202					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCATGACCACGATCATCTTCT	0.373																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(604-606)Cgt>Tgt		aspartylglucosaminidase							134.0	128.0	130.0					4																	178358577		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178358577G>A	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.604C>T	4.37:g.178358577G>A	ENSP00000264595:p.Arg202Cys					AGA_ENST00000506853.1_5'UTR	p.R202C	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	5	731	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	202					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.604C>T	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560688	0.27827	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.88277	-2.36;-1.92	5.53	-2.69	0.06022	.	0.903450	0.09711	N	0.765684	D	0.87962	0.6310	M	0.74647	2.275	0.09310	N	1	B	0.17465	0.022	B	0.18561	0.022	T	0.76594	-0.2902	10	0.42905	T	0.14	-21.2794	16.0354	0.80625	0.1574:0.0:0.8426:0.0	.	202	P20933	ASPG_HUMAN	C	202;87	ENSP00000264595:R202C;ENSP00000423798:R87C	ENSP00000264595:R202C	R	-	1	0	AGA	178595571	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.352000	0.34033	-0.276000	0.09206	0.655000	0.94253	CGT		0.373	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		31	164	0	0	0	1	0	31	164				
UTRN	7402	broad.mit.edu	37	6	144780066	144780066	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144780066G>A	ENST00000367545.3	+	19	2445	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	815	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGTCATCAAGACAAAGGAGG	0.423																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2443-2445)aaG>aaA		utrophin							53.0	55.0	54.0					6																	144780066		2202	4300	6502	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144780066G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2445G>A	6.37:g.144780066G>A							p.K815K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	19	2445	+		Ovarian(120;0.218)	815			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.2445G>A	CCDS34547.1																																																																																				0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			48	208	0	0	0	1	0	48	208				
FCER1A	2205	broad.mit.edu	37	1	159277659	159277659	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159277659G>A	ENST00000368115.1	+	6	810	c.711G>A	c.(709-711)aaG>aaA	p.K237K	FCER1A_ENST00000368114.1_Silent_p.K204K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	237					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGAAGATTAAGAGAACCAGGA	0.368																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(709-711)aaG>aaA		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						98.0	94.0	95.0					1																	159277659		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159277659G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.711G>A	1.37:g.159277659G>A						FCER1A_ENST00000368114.1_Silent_p.K204K	p.K237K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			6	810	+	all_hematologic(112;0.0429)		237						Silent	SNP	ENST00000368115.1	37	c.711G>A	CCDS1184.1																																																																																				0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		70	296	0	0	0	1	0	70	296				
TBC1D3P2	440452	broad.mit.edu	37	17	60342305	60342305	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60342305C>T	ENST00000581291.1	-	0	1848									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						AAAAATAAAACGAGGAGGCGA	0.463																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342305C>T			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342305C>T														0	1848	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.463	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		39	446	0	0	0	1	0	39	446				
MBD3	53615	broad.mit.edu	37	19	1578415	1578415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1578415G>A	ENST00000434436.3	-	6	929	c.800C>T	c.(799-801)gCt>gTt	p.A267V	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|MBD3_ENST00000590550.2_Missense_Mutation_p.A211V|MBD3_ENST00000156825.1_Missense_Mutation_p.A267V|AC005943.5_ENST00000588960.1_lincRNA|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	267					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		gtcgtcctcAGCGCAGGCCTT	0.716																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(631-633)gCt>gTt		methyl-CpG binding domain protein 3							36.0	35.0	35.0					19																	1578415		2203	4300	6503	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578415G>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.800C>T	19.37:g.1578415G>A	ENSP00000412302:p.Ala267Val					MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|MBD3_ENST00000434436.3_Missense_Mutation_p.A267V|MBD3_ENST00000156825.1_Missense_Mutation_p.A267V	p.A211V			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1005	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	267					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.632C>T	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535481	0.64972	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98493	-4.96	4.32	-2.66	0.06077	.	0.849959	0.10277	N	0.694043	D	0.92293	0.7555	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84772	0.0768	10	0.66056	D	0.02	-1.199	1.1137	0.01710	0.2568:0.2808:0.3202:0.1423	.	235;267	O95983-2;O95983	.;MBD3_HUMAN	V	235;267	ENSP00000156825:A267V	ENSP00000156825:A267V	A	-	2	0	MBD3	1529415	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.207000	0.17395	-0.314000	0.08716	0.313000	0.20887	GCT		0.716	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		53	252	0	0	0	1	0	53	252				
GTF2E1	2960	broad.mit.edu	37	3	120469705	120469705	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120469705G>A	ENST00000283875.5	+	2	399	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	102	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTGTTAATGTGGTAAAATATA	0.413																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(304-306)gtG>gtA		general transcription factor IIE, polypeptide 1, alpha 56kDa							74.0	74.0	74.0					3																	120469705		2203	4300	6503	SO:0001819	synonymous_variant	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469705G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.306G>A	3.37:g.120469705G>A							p.V102V	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	399	+			102			HTH TFE/IIEalpha-type.		Q16103	Silent	SNP	ENST00000283875.5	37	c.306G>A	CCDS3002.1																																																																																				0.413	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		56	281	0	0	0	1	0	56	281				
ITSN2	50618	broad.mit.edu	37	2	24484038	24484038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24484038C>T	ENST00000355123.4	-	22	3062	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	873					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTTTCTGCCATGATGTAT	0.368																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(2617-2619)tgG>tgA		intersectin 2							131.0	122.0	125.0					2																	24484038		2203	4300	6503	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24484038C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2619G>A	2.37:g.24484038C>T	ENSP00000347244:p.Trp873*					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*	p.W873*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			22	3062	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		873					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.2619G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	42	9.288940	0.99127	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	5.27	5.27	0.74061	.	0.000000	0.35870	U	0.002921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.2658	0.93984	0.0:1.0:0.0:0.0	.	.	.	.	X	846;873;846;873	.	ENSP00000347244:W873X	W	-	3	0	ITSN2	24337542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.841000	0.55850	2.650000	0.89964	0.555000	0.69702	TGG		0.368	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		35	231	0	0	0	1	0	35	231				
R3HDM1	23518	broad.mit.edu	37	2	136399206	136399206	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136399206A>G	ENST00000264160.4	+	15	1690	c.1320A>G	c.(1318-1320)gcA>gcG	p.A440A	R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409606.1_Silent_p.A440A|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Silent_p.A384A	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	440							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTCATGGCGCACCTGTCGTCT	0.498																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1318-1320)gcA>gcG		R3H domain containing 1							193.0	174.0	180.0					2																	136399206		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136399206A>G	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1320A>G	2.37:g.136399206A>G						R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000410054.1_Silent_p.A384A|R3HDM1_ENST00000409606.1_Silent_p.A440A|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000329971.3_Intron	p.A440A	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	15	1690	+			440					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.1320A>G	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133237	0.21041	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.76	2.28	0.28536	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	-2.99	5.9648	0.19318	0.5055:0.2359:0.2587:0.0	.	.	.	.	A	129	.	.	T	+	1	0	R3HDM1	136115676	0.888000	0.30383	1.000000	0.80357	0.999000	0.98932	0.057000	0.14279	0.470000	0.27294	0.533000	0.62120	ACC		0.498	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		61	671	0	0	0	1	0	61	671				
ATG2B	55102	broad.mit.edu	37	14	96789073	96789073	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96789073C>A	ENST00000359933.4	-	17	3434		c.e17-1		snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTACAATTCTGATAGCAAA	0.358																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.e17-1		autophagy related 2B							94.0	85.0	88.0					14																	96789073		1839	4092	5931	SO:0001630	splice_region_variant	55102							g.chr14:96789073C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2541-1G>T	14.37:g.96789073C>A								NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	17	3434	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)						Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	SNP	ENST00000359933.4	37		CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516160	0.64634	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG2B	95858826	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.270000	0.78493	2.679000	0.91253	0.655000	0.94253	.		0.358	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	48	204	1	0	5.34276e-22	1	6.03513e-22	48	204				
B4GALNT1	2583	broad.mit.edu	37	12	58022910	58022910	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58022910T>G	ENST00000341156.4	-	7	1316	c.732A>C	c.(730-732)ggA>ggC	p.G244G	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Silent_p.G189G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	244					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGCCTCATGTCCCTCGGTGG	0.552																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(730-732)ggA>ggC		beta-1,4-N-acetyl-galactosaminyl transferase 1							73.0	67.0	69.0					12																	58022910		2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022910T>G	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.732A>C	12.37:g.58022910T>G						B4GALNT1_ENST00000418555.2_Silent_p.G189G|B4GALNT1_ENST00000449184.3_Intron	p.G244G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	1316	-	Melanoma(17;0.122)		244					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.732A>C	CCDS8950.1																																																																																				0.552	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		27	108	0	0	0	1	0	27	108				
MARK3	4140	broad.mit.edu	37	14	103969447	103969447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969447G>T	ENST00000429436.2	+	18	2655	c.2145G>T	c.(2143-2145)atG>atT	p.M715I	MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000416682.2_Missense_Mutation_p.M714I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000303622.9_Missense_Mutation_p.M691I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	715	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTGGGAAATGGAAGTGTGCA	0.527																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2143-2145)atG>atT		MAP/microtubule affinity-regulating kinase 3							64.0	66.0	65.0					14																	103969447		2034	4215	6249	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103969447G>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2145G>T	14.37:g.103969447G>T	ENSP00000411397:p.Met715Ile					MARK3_ENST00000303622.9_Missense_Mutation_p.M691I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000416682.2_Missense_Mutation_p.M714I	p.M715I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		18	2655	+		Melanoma(154;0.155)	715			KA1.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.2145G>T	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.697104|2.697104	0.48202|0.48202	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.37915|.	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (4);|.	0.105274|.	0.85682|.	D|.	0.000000|.	T|T	0.47728|0.47728	0.1461|0.1461	N|N	0.05158|0.05158	-0.105|-0.105	0.80722|0.80722	D|D	1|1	B;D;B;P;B;B;P;B;B|.	0.56746|.	0.168;0.977;0.168;0.932;0.162;0.035;0.454;0.264;0.289|.	B;D;B;D;B;B;B;B;B|.	0.63488|.	0.192;0.912;0.101;0.915;0.075;0.134;0.266;0.175;0.192|.	T|T	0.41288|0.41288	-0.9517|-0.9517	10|5	0.22706|.	T|.	0.39|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	722;293;714;424;675;715;621;706;691|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	I|L	738;407;621;714;715;691;675;706;293|467	ENSP00000335347:M738I;ENSP00000402104:M621I;ENSP00000408092:M714I;ENSP00000411397:M715I;ENSP00000303698:M691I;ENSP00000216288:M675I;ENSP00000450772:M706I;ENSP00000451623:M293I|.	ENSP00000216288:M706I|.	M|W	+|+	3|2	0|0	MARK3|MARK3	103039200|103039200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.302000|0.302000	0.27658|0.27658	9.807000|9.807000	0.99171|0.99171	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.527	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		69	267	1	0	2.05175e-36	1	2.45602e-36	69	267				
SLC45A4	57210	broad.mit.edu	37	8	142228404	142228404	+	Silent	SNP	G	G	A	rs574825748	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228404G>A	ENST00000024061.3	-	4	1489	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	SLC45A4_ENST00000519067.1_Silent_p.A394A|SLC45A4_ENST00000517878.1_Silent_p.A445A|SLC45A4_ENST00000433583.2_Silent_p.A387A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCAGCACCACGGCGTTGGCGC	0.692													g|||	2	0.000399361	0.0	0.0	5008	,	,		15237	0.0		0.0	False		,,,				2504	0.002					ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1180-1182)gcC>gcT		solute carrier family 45, member 4							41.0	43.0	42.0					8																	142228404		2203	4297	6500	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142228404G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1182C>T	8.37:g.142228404G>A						SLC45A4_ENST00000024061.3_Silent_p.A394A|SLC45A4_ENST00000517878.1_Silent_p.A445A|SLC45A4_ENST00000433583.2_Silent_p.A387A	p.A394A			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1485	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		445					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.1182C>T	CCDS34948.1																																																																																				0.692	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		10	344	0	0	0	1	0	10	344				
DDX56	54606	broad.mit.edu	37	7	44612246	44612246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44612246C>T	ENST00000258772.5	-	4	587	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DDX56_ENST00000431640.1_Missense_Mutation_p.E161K|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	161	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCAAAAGCTCCAGGGAGTCA	0.507																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(481-483)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box helicase 56							144.0	142.0	142.0					7																	44612246		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612246C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.481G>A	7.37:g.44612246C>T	ENSP00000258772:p.Glu161Lys					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.E161K	p.E161K	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			4	587	-			161			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.481G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	17.97	3.518387	0.64634	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.39056	1.1;1.1	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.053895	0.64402	D	0.000001	T	0.24661	0.0598	N	0.05383	-0.06	0.54753	D	0.999987	B;B	0.33583	0.277;0.418	B;B	0.35278	0.159;0.199	T	0.10730	-1.0617	10	0.25106	T	0.35	-39.2328	12.9102	0.58175	0.0:0.8368:0.1632:0.0	.	161;161	C9JV95;Q9NY93	.;DDX56_HUMAN	K	161	ENSP00000258772:E161K;ENSP00000393488:E161K	ENSP00000258772:E161K	E	-	1	0	DDX56	44578771	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.681000	0.61663	2.746000	0.94184	0.655000	0.94253	GAG		0.507	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		116	552	0	0	0	1	0	116	552				
POPDC2	64091	broad.mit.edu	37	3	119379151	119379151	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119379151G>T	ENST00000264231.3	-	1	286	c.120C>A	c.(118-120)ggC>ggA	p.G40G	POPDC2_ENST00000468801.1_Silent_p.G40G|POPDC2_ENST00000493094.1_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Silent_p.G40G	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	40					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCCCCATGAAGCCCAGGAGTA	0.572																																						ENST00000493094.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(118-120)ggC>ggA		popeye domain containing 2							95.0	86.0	89.0					3																	119379151		2203	4300	6503	SO:0001819	synonymous_variant	64091					integral to membrane		g.chr3:119379151G>T	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.120C>A	3.37:g.119379151G>T						POPDC2_ENST00000538678.1_Silent_p.G40G|POPDC2_ENST00000264231.3_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000468801.1_Silent_p.G40G	p.G40G			Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	1	579	-			40					Q86UE7	Silent	SNP	ENST00000264231.3	37	c.120C>A	CCDS2992.1																																																																																				0.572	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		45	217	1	0	1.76056e-25	1	2.02043e-25	45	217				
MRPS15	64960	broad.mit.edu	37	1	36921477	36921477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36921477G>T	ENST00000373116.5	-	8	847	c.686C>A	c.(685-687)gCt>gAt	p.A229D	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	229					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGCAGCCTTTAAGGC	0.473																																						ENST00000373116.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14						c.(685-687)gCt>gAt		mitochondrial ribosomal protein S15							123.0	118.0	120.0					1																	36921477		2203	4300	6503	SO:0001583	missense	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36921477G>T	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.686C>A	1.37:g.36921477G>T	ENSP00000362208:p.Ala229Asp					MRPS15_ENST00000488606.1_5'UTR	p.A229D	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN			8	847	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	229					B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	c.686C>A	CCDS411.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713210	0.68730	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.47	4.51	0.55191	.	0.487586	0.21396	N	0.075224	T	0.50017	0.1591	M	0.64997	1.995	0.30780	N	0.742056	P	0.50066	0.931	P	0.45310	0.476	T	0.59815	-0.7383	9	0.56958	D	0.05	-13.38	13.6971	0.62587	0.0:0.0:0.8472:0.1528	.	229	P82914	RT15_HUMAN	D	229	.	ENSP00000362208:A229D	A	-	2	0	MRPS15	36694064	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.724000	0.38064	2.730000	0.93505	0.643000	0.83706	GCT		0.473	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		62	462	1	0	2.53126e-37	1	3.03882e-37	62	462				
VAX1	11023	broad.mit.edu	37	10	118896084	118896084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118896084C>A	ENST00000369206.5	-	2	327	c.328G>T	c.(328-330)Gag>Tag	p.E110*	VAX1_ENST00000277905.2_Nonsense_Mutation_p.E110*	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	110					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TAGAGCTGCTCCGCGGTGAAG	0.652																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(328-330)Gag>Tag		ventral anterior homeobox 1							43.0	41.0	42.0					10																	118896084		2202	4300	6502	SO:0001587	stop_gained	11023					nucleus	sequence-specific DNA binding	g.chr10:118896084C>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.328G>T	10.37:g.118896084C>A	ENSP00000358207:p.Glu110*					VAX1_ENST00000369206.5_Nonsense_Mutation_p.E110*	p.E110*	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	572	-			110					B1AVW5|Q6ZSX0	Nonsense_Mutation	SNP	ENST00000369206.5	37	c.328G>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908892	0.92107	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	.	.	.	4.03	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.2658	13.3785	0.60754	0.0:0.8404:0.1596:0.0	.	.	.	.	X	110	.	ENSP00000277905:E110X	E	-	1	0	VAX1	118886074	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	5.529000	0.67135	0.845000	0.35118	0.455000	0.32223	GAG		0.652	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		66	247	1	0	5.80444e-35	1	6.91851e-35	66	247				
THBS2	7058	broad.mit.edu	37	6	169632237	169632237	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632237C>T	ENST00000366787.3	-	14	2238	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	663	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGATGCACTCCGCGTGCTTGT	0.627																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1987-1989)gcG>gcA		thrombospondin 2							192.0	171.0	178.0					6																	169632237		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632237C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1989G>A	6.37:g.169632237C>T						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.A663A	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2238	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	663			EGF-like 3.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1989G>A	CCDS34574.1																																																																																				0.627	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		123	502	0	0	0	1	0	123	502				
KIAA1109	84162	broad.mit.edu	37	4	123274089	123274089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123274089C>T	ENST00000264501.4	+	81	14253	c.13880C>T	c.(13879-13881)cCt>cTt	p.P4627L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L			Q2LD37	K1109_HUMAN	KIAA1109	4627					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CGACACTGGCCTGGAGTATTG	0.433																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(13879-13881)cCt>cTt		KIAA1109							159.0	153.0	155.0					4																	123274089		2001	4184	6185	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123274089C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13880C>T	4.37:g.123274089C>T	ENSP00000264501:p.Pro4627Leu					KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L	p.P4627L			Q2LD37	K1109_HUMAN			81	14253	+			4627					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.13880C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610370	0.87258	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.43294	0.95;0.95;0.95	5.98	5.98	0.97165	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54957	-0.8215	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	4626;4627	Q2LD37-4;Q2LD37	.;K1109_HUMAN	L	4627;4627;1296;228	ENSP00000264501:P4627L;ENSP00000373390:P4627L;ENSP00000410874:P1296L	ENSP00000264501:P4627L	P	+	2	0	KIAA1109	123493539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCT		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		94	409	0	0	0	1	0	94	409				
FADS3	3995	broad.mit.edu	37	11	61644341	61644341	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61644341A>T	ENST00000278829.2	-	8	1132	c.980T>A	c.(979-981)gTc>gAc	p.V327D	FADS3_ENST00000527697.1_Missense_Mutation_p.V203D|FADS3_ENST00000525588.1_Missense_Mutation_p.V299D|FADS3_ENST00000540820.1_Missense_Mutation_p.V327D	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	327					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCATACCTGACAGCAACAAA	0.612																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(979-981)gTc>gAc		fatty acid desaturase 3							73.0	64.0	67.0					11																	61644341		2194	4296	6490	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61644341A>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.980T>A	11.37:g.61644341A>T	ENSP00000278829:p.Val327Asp					FADS3_ENST00000527697.1_Missense_Mutation_p.V203D|FADS3_ENST00000525588.1_Missense_Mutation_p.V299D|FADS3_ENST00000278829.2_Missense_Mutation_p.V327D	p.V327D			Q9Y5Q0	FADS3_HUMAN			8	1052	-			327					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.980T>A	CCDS8013.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	26.2|26.2|26.2	4.713735|4.713735|4.713735	0.89112|0.89112|0.89112	.|.|.	.|.|.	ENSG00000221968|ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527379|ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588	.|.|T;T;T;T	.|.|0.73469	.|.|-0.75;-0.75;-0.75;-0.75	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|.|Fatty acid desaturase, type 1 (1);	.|.|.	.|.|.	.|.|.	.|.|.	.|D|D	.|0.88265|0.88265	.|0.6390|0.6390	M|M|M	0.93763|0.93763|0.93763	3.455|3.455|3.455	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D	.|.|0.59357	.|.|0.915;0.985	.|.|D;D	.|.|0.69142	.|.|0.936;0.962	.|D|D	.|0.89161|0.89161	.|0.3530|0.3530	.|5|9	.|.|0.36615	.|.|T	.|.|0.2	.|.|.	12.8165|12.8165|12.8165	0.57669|0.57669|0.57669	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|203;327	.|.|E9PKP8;Q9Y5Q0	.|.|.;FADS3_HUMAN	X|T|D	1|102|203;327;327;299	.|.|ENSP00000431533:V203D;ENSP00000278829:V327D;ENSP00000439308:V327D;ENSP00000432206:V299D	.|.|ENSP00000278829:V327D	C|S|V	-|-|-	3|1|2	2|0|0	FADS3|FADS3|FADS3	61400917|61400917|61400917	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	7.444000|7.444000|7.444000	0.80532|0.80532|0.80532	2.046000|2.046000|2.046000	0.60703|0.60703|0.60703	0.448000|0.448000|0.448000	0.29417|0.29417|0.29417	TGT|TCA|GTC		0.612	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			14	55	0	0	0	1	0	14	55				
HEMGN	55363	broad.mit.edu	37	9	100693016	100693016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100693016C>A	ENST00000259456.3	-	4	804	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	221					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAGCCATATCTTGGTACATT	0.418																																						ENST00000259456.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(661-663)Gat>Tat		hemogen							263.0	254.0	257.0					9																	100693016		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693016C>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.661G>T	9.37:g.100693016C>A	ENSP00000259456:p.Asp221Tyr						p.D221Y	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN			4	804	-		Acute lymphoblastic leukemia(62;0.0559)	221					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.661G>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736471	0.49045	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.82	1.93	0.25924	.	0.819333	0.10544	N	0.662314	T	0.41811	0.1175	L	0.58101	1.795	0.09310	N	1	P	0.41131	0.739	P	0.44394	0.448	T	0.32561	-0.9902	9	0.62326	D	0.03	-1.5525	4.9966	0.14243	0.0:0.6384:0.1729:0.1887	.	221	Q9BXL5	HEMGN_HUMAN	Y	221	.	ENSP00000259456:D221Y	D	-	1	0	HEMGN	99732837	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.222000	0.17699	0.337000	0.23665	0.655000	0.94253	GAT		0.418	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		231	1035	1	0	2.87422e-67	1	3.6404e-67	231	1035				
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	rs118203683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135778026C>T	ENST00000298552.3	-	18	2578	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q|TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	786					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAATTCCTCTCGGTCATGCTG	0.527			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(2356-2358)cGa>cAa		tuberous sclerosis 1							238.0	211.0	220.0					9																	135778026		2203	4300	6503	SO:0001583	missense	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135778026C>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2357G>A	9.37:g.135778026C>T	ENSP00000298552:p.Arg786Gln		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1620	TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q|TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q	p.R786Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	18	2578	-			786					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.2357G>A	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248469	0.95305	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82167	-1.58;-1.58;-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	N	0.20986	0.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83316	-0.0020	10	0.26408	T	0.33	-10.967	18.4925	0.90853	0.0:1.0:0.0:0.0	.	735;786	B7Z897;Q92574	.;TSC1_HUMAN	Q	786;786;735	ENSP00000298552:R786Q;ENSP00000394524:R786Q;ENSP00000444017:R735Q	ENSP00000298552:R786Q	R	-	2	0	TSC1	134767847	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	4.560000	0.60802	2.607000	0.88179	0.561000	0.74099	CGA		0.527	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			161	591	0	0	0	1	0	161	591				
ADCK1	57143	broad.mit.edu	37	14	78390815	78390815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78390815G>T	ENST00000238561.5	+	8	973	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C	ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	299	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGCCACCTGGGCAAGATGTA	0.572																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(874-876)Ggc>Tgc		aarF domain containing kinase 1							98.0	89.0	92.0					14																	78390815		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78390815G>T	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.874G>T	14.37:g.78390815G>T	ENSP00000238561:p.Gly292Cys					ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C	p.G292C	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	8	973	+			299			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.874G>T	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986766	0.93106	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;D;T	0.81739	1.57;-1.53;1.57	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.85455	0.1163	10	0.36615	T	0.2	-19.8807	19.6876	0.95986	0.0:0.0:1.0:0.0	.	224;292	Q9UIE6;Q86TW2-2	.;.	C	292;253;224	ENSP00000238561:G292C;ENSP00000451549:G253C;ENSP00000339663:G224C	ENSP00000238561:G292C	G	+	1	0	ADCK1	77460568	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.665000	0.98609	2.659000	0.90383	0.655000	0.94253	GGC		0.572	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		67	303	1	0	3.89499e-28	1	4.52561e-28	67	303				
ADAMTSL4	54507	broad.mit.edu	37	1	150525729	150525729	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525729G>T	ENST00000369038.2	+	3	635	c.434G>T	c.(433-435)aGg>aTg	p.R145M	ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145M|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145M|ADAMTSL4_ENST00000271643.4_Splice_Site_p.R145M|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	145					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGGCCAGGAGGTGAGAGGCC	0.632																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.e5+1		ADAMTS-like 4							17.0	20.0	19.0					1																	150525729		2189	4285	6474	SO:0001630	splice_region_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525729G>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.434+1G>T	1.37:g.150525729G>T						RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Splice_Site_p.R145_splice|ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145_splice|ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145_splice	p.R145_splice	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	670	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		145					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Splice_Site	SNP	ENST00000369038.2	37	c.434_splice	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714946	0.68844	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.72167	-0.58;-0.63;-0.37;-0.63	4.46	4.46	0.54185	.	.	.	.	.	T	0.76499	0.3996	M	0.63843	1.955	0.39085	D	0.960988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.996;0.999	T	0.79869	-0.1621	9	0.66056	D	0.02	.	12.603	0.56506	0.0:0.0:1.0:0.0	.	145;145;145;145	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	M	145	ENSP00000358037:R145M;ENSP00000271643:R145M;ENSP00000358035:R145M;ENSP00000358034:R145M	ENSP00000271643:R145M	R	+	2	0	ADAMTSL4	148792353	1.000000	0.71417	0.999000	0.59377	0.679000	0.39708	4.520000	0.60524	2.029000	0.59856	0.561000	0.74099	AGG		0.632	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	Missense_Mutation	33	227	1	0	1.80694e-10	1	1.9163e-10	33	227				
MYBPC3	4607	broad.mit.edu	37	11	47360107	47360107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47360107C>T	ENST00000545968.1	-	23	2326	c.2272G>A	c.(2272-2274)Ggc>Agc	p.G758S	MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S|MYBPC3_ENST00000399249.2_Missense_Mutation_p.G758S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	758	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGTCCTCGCCCACAGGGTTC	0.637																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2272-2274)Ggc>Agc		myosin binding protein C, cardiac							94.0	96.0	95.0					11																	47360107		2100	4211	6311	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360107C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2272G>A	11.37:g.47360107C>T	ENSP00000442795:p.Gly758Ser					MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S|MYBPC3_ENST00000545968.1_Missense_Mutation_p.G758S	p.G758S			Q14896	MYPC3_HUMAN		Lung(87;0.176)	22	2326	-			757		E -> D (in CMH4).	Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2272G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591283	0.96590	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	D;D;D	0.82711	-1.64;-1.64;-1.64	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92328	0.7566	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.93224	0.6611	9	0.87932	D	0	.	19.209	0.93747	0.0:1.0:0.0:0.0	.	757	Q14896	MYPC3_HUMAN	S	758;758;757	ENSP00000442795:G758S;ENSP00000382193:G758S;ENSP00000256993:G757S	ENSP00000256993:G757S	G	-	1	0	MYBPC3	47316683	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.469000	0.80959	2.536000	0.85505	0.563000	0.77884	GGC		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			41	209	0	0	0	1	0	41	209				
HEATR1	55127	broad.mit.edu	37	1	236744595	236744595	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236744595A>C	ENST00000366582.3	-	20	2796	c.2682T>G	c.(2680-2682)ctT>ctG	p.L894L	HEATR1_ENST00000366581.2_Silent_p.L894L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	894					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCCCACATAAAGAGCTTGAG	0.393																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2680-2682)ctT>ctG		HEAT repeat containing 1							168.0	161.0	164.0					1																	236744595		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236744595A>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2682T>G	1.37:g.236744595A>C						HEATR1_ENST00000366581.2_Silent_p.L894L	p.L894L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		20	2796	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	894					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2682T>G	CCDS31066.1																																																																																				0.393	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		214	538	0	0	0	1	0	214	538				
EDC3	80153	broad.mit.edu	37	15	74948392	74948392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74948392G>A	ENST00000315127.4	-	4	683	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y|EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	168					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGATTTGGGTGCCTGCTACTA	0.438																																						ENST00000315127.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(502-504)Cac>Tac		enhancer of mRNA decapping 3							75.0	72.0	73.0					15																	74948392		2197	4296	6493	SO:0001583	missense	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74948392G>A	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.502C>T	15.37:g.74948392G>A	ENSP00000320503:p.His168Tyr					EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y|EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y	p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN			4	683	-			168					B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	c.502C>T	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	G	4.854	0.158716	0.09236	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.44	5.44	0.79542	.	0.290119	0.38959	N	0.001513	T	0.29389	0.0732	N	0.04508	-0.205	0.36208	D	0.851152	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	9	0.27082	T	0.32	-10.107	11.6774	0.51438	0.0809:0.0:0.9191:0.0	.	168	Q96F86	EDC3_HUMAN	Y	168	.	ENSP00000320503:H168Y	H	-	1	0	EDC3	72735445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.000000	0.63940	2.535000	0.85469	0.655000	0.94253	CAC		0.438	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		37	377	0	0	0	1	0	37	377				
NOS3	4846	broad.mit.edu	37	7	150695754	150695754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150695754G>A	ENST00000484524.1	+	6	802	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	NOS3_ENST00000461406.1_Missense_Mutation_p.V62M|NOS3_ENST00000467517.1_Missense_Mutation_p.V268M|NOS3_ENST00000297494.3_Missense_Mutation_p.V268M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGCCAACGTGGAGATCAC	0.662																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(802-804)Gtg>Atg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						12.0	13.0	13.0					7																	150695754		2178	4268	6446	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150695754G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.802G>A	7.37:g.150695754G>A	ENSP00000420215:p.Val268Met					NOS3_ENST00000467517.1_Missense_Mutation_p.V268M|NOS3_ENST00000461406.1_Missense_Mutation_p.V62M|NOS3_ENST00000484524.1_Missense_Mutation_p.V268M	p.V268M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1159	+	all_neural(206;0.219)		268			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.802G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.198993	0.79015	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (2);	0.111909	0.37857	N	0.001908	T	0.58892	0.2154	M	0.86805	2.84	0.48975	D	0.999739	D;D;D;D;D	0.64830	0.987;0.987;0.987;0.984;0.994	P;P;P;P;P	0.54499	0.689;0.689;0.754;0.636;0.638	T	0.67845	-0.5565	10	0.72032	D	0.01	-12.9524	16.4458	0.83932	0.0:0.0:1.0:0.0	.	268;268;268;62;268	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	268;62;268;268	ENSP00000297494:V268M;ENSP00000417143:V62M;ENSP00000420215:V268M;ENSP00000420551:V268M	ENSP00000297494:V268M	V	+	1	0	NOS3	150326687	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	5.725000	0.68507	2.548000	0.85928	0.637000	0.83480	GTG		0.662	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		9	67	0	0	0	1	0	9	67				
PGAM1	5223	broad.mit.edu	37	10	99190716	99190716	+	Missense_Mutation	SNP	G	G	A	rs138208659		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99190716G>A	ENST00000334828.5	+	3	567	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	140					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GCTTAGGATCGCAGGTATGCA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.0					ENST00000334828.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(418-420)cGc>cAc		phosphoglycerate mutase 1 (brain)							104.0	104.0	104.0					10																	99190716		2203	4300	6503	SO:0001583	missense	5223				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding	g.chr10:99190716G>A	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.419G>A	10.37:g.99190716G>A	ENSP00000359991:p.Arg140His					PGAM1_ENST00000467867.1_3'UTR	p.R140H	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)	3	567	+		Colorectal(252;0.162)	140					Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	c.419G>A	CCDS7458.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.44	2.535006	0.45073	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.80214	-1.35	5.13	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	M	0.78637	2.42	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.17979	0.02;0.003	T	0.80476	-0.1366	10	0.62326	D	0.03	-0.6606	18.928	0.92553	0.0:0.0:1.0:0.0	.	125;140	B4DKL5;P18669	.;PGAM1_HUMAN	H	140;30	ENSP00000359991:R140H	ENSP00000359991:R140H	R	+	2	0	PGAM1	99180706	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	9.622000	0.98378	2.549000	0.85964	0.561000	0.74099	CGC		0.428	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629		51	264	0	0	0	1	0	51	264				
FGL1	2267	broad.mit.edu	37	8	17726143	17726143	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17726143T>G	ENST00000398056.2	-	9	1508	c.693A>C	c.(691-693)agA>agC	p.R231S	FGL1_ENST00000381841.2_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S|FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000522444.1_Missense_Mutation_p.R231S			Q08830	FGL1_HUMAN	fibrinogen-like 1	231	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TGAATTTCATTCTTTGGTGAC	0.453																																						ENST00000398056.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13						c.(691-693)agA>agC		fibrinogen-like 1							156.0	143.0	148.0					8																	17726143		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17726143T>G	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.693A>C	8.37:g.17726143T>G	ENSP00000381133:p.Arg231Ser					FGL1_ENST00000522444.1_Missense_Mutation_p.R231S|FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000381841.2_Missense_Mutation_p.R231S	p.R231S			Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	9	1508	-			231			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.693A>C	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573112	0.45902	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.57	-1.8	0.07907	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.146424	0.64402	D	0.000012	T	0.09949	0.0244	N	0.11724	0.165	0.30491	N	0.771345	B;B;B	0.29212	0.237;0.166;0.016	B;B;B	0.34590	0.186;0.096;0.011	T	0.12502	-1.0545	10	0.44086	T	0.13	.	5.089	0.14698	0.1293:0.3438:0.0:0.5269	.	201;231;231	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	S	231;231;201;231;231;231;231;231;231	ENSP00000381133:R231S;ENSP00000429757:R231S;ENSP00000371263:R231S;ENSP00000401952:R231S;ENSP00000381131:R231S;ENSP00000371262:R231S;ENSP00000428430:R231S	ENSP00000221204:R231S	R	-	3	2	FGL1	17770423	0.994000	0.37717	0.946000	0.38457	0.905000	0.53344	0.305000	0.19254	-0.369000	0.08028	0.477000	0.44152	AGA		0.453	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		137	608	0	0	0	1	0	137	608				
ARNT2	9915	broad.mit.edu	37	15	80845037	80845037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80845037C>T	ENST00000303329.4	+	10	1176	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	ARNT2_ENST00000527771.1_Silent_p.F326F|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Silent_p.F326F	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	337	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACAGAGTTCTTATCCCGGC	0.493																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(976-978)ttC>ttT		aryl-hydrocarbon receptor nuclear translocator 2							170.0	142.0	152.0					15																	80845037		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845037C>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1011C>T	15.37:g.80845037C>T						ARNT2_ENST00000527771.1_Silent_p.F326F|ARNT2_ENST00000303329.4_Silent_p.F337F	p.F326F			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1317	+			337			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.978C>T	CCDS32307.1																																																																																				0.493	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			18	551	0	0	0	1	0	18	551				
A3GALT2	127550	broad.mit.edu	37	1	33772924	33772924	+	Missense_Mutation	SNP	G	G	A	rs201711967	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33772924G>A	ENST00000442999.3	-	5	465	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RP11-415J8.3_ENST00000457957.2_RNA|A3GALT2_ENST00000330379.5_Missense_Mutation_p.R101C|RP11-415J8.3_ENST00000588828.1_RNA	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				GGCAGCCGGCGTCCCGGGCCC	0.746																																						ENST00000442999.3																			0											c.(466-468)Cgc>Tgc		alpha 1,3-galactosyltransferase 2							13.0	13.0	13.0					1																	33772924		1732	3875	5607	SO:0001583	missense	127550							g.chr1:33772924G>A		CCDS60080.1	1p35.1	2013-09-05	2013-03-11	2013-03-11	ENSG00000184389	ENSG00000184389		"""Glycosyltransferase family 6 domain containing"""	30005	protein-coding gene	gene with protein product	"""iGb3 synthase"", ""isoglobotriaosylceramide synthase"""		"""alpha 1,3-galactosyltransferase 2, pseudogene"""	A3GALT2P		10854427, 18630988	Standard	NM_001080438		Approved	IGBS3S	uc031plq.1		OTTHUMG00000004125	ENST00000442999.3:c.466C>T	1.37:g.33772924G>A	ENSP00000475261:p.Arg156Cys					A3GALT2_ENST00000330379.5_Missense_Mutation_p.R101C	p.R156C	NM_001080438.1	NP_001073907.1					5	465	-		Myeloproliferative disorder(586;0.0393)							Missense_Mutation	SNP	ENST00000442999.3	37	c.466C>T																																																																																					0.746	A3GALT2-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000011861.3	NM_001080438		27	144	0	0	0	1	0	27	144				
ASTN1	460	broad.mit.edu	37	1	177000083	177000083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177000083C>T	ENST00000367654.3	-	4	1082	c.871G>A	c.(871-873)Gac>Aac	p.D291N	ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N|ASTN1_ENST00000281881.3_5'UTR|MIR488_ENST00000365739.2_RNA	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	291					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGGCATTGTCACTTCCTGTA	0.418																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(871-873)Gac>Aac		astrotactin 1							102.0	103.0	103.0					1																	177000083		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177000083C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.871G>A	1.37:g.177000083C>T	ENSP00000356626:p.Asp291Asn					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N	p.D291N			O14525	ASTN1_HUMAN			4	884	-			291					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.871G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.341740	0.95783	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16597	2.33;2.74;2.75;2.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.81914	0.995;0.987;0.987	T	0.03773	-1.1005	10	0.66056	D	0.02	-36.3384	19.5808	0.95467	0.0:1.0:0.0:0.0	.	291;291;291	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	291	ENSP00000356629:D291N;ENSP00000354536:D291N;ENSP00000356626:D291N;ENSP00000395041:D291N	ENSP00000354536:D291N	D	-	1	0	ASTN1	175266706	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.348000	0.79366	2.706000	0.92434	0.655000	0.94253	GAC		0.418	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		70	240	0	0	0	1	0	70	240				
ABCC10	89845	broad.mit.edu	37	6	43417778	43417778	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43417778G>A	ENST00000372530.4	+	22	4643	c.4428G>A	c.(4426-4428)caG>caA	p.Q1476Q	ABCC10_ENST00000244533.3_Silent_p.Q1448Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1476	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q1448H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGTTCCAGCAGCTGCTGCAGA	0.652																																						ENST00000244533.3																			1	Substitution - Missense(1)	p.Q1448H(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(4342-4344)caG>caA		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							53.0	60.0	57.0					6																	43417778		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43417778G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4428G>A	6.37:g.43417778G>A						ABCC10_ENST00000372530.4_Silent_p.Q1476Q	p.Q1448Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		20	4703	+	all_lung(25;0.00536)		1476			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.4344G>A	CCDS56430.1																																																																																				0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		35	474	0	0	0	1	0	35	474				
ACSS2	55902	broad.mit.edu	37	20	33509141	33509141	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33509141G>A	ENST00000360596.2	+	11	1497	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	429					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCATAGCCGGGCATCCTTG	0.592																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1285-1287)cGg>cAg		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						67.0	69.0	68.0					20																	33509141		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33509141G>A	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1286G>A	20.37:g.33509141G>A	ENSP00000353804:p.Arg429Gln					ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q	p.R429Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			11	1497	+			429					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.1286G>A	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275405	0.95459	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.49432	0.78;2.86;2.86	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.975	T	0.74551	-0.3628	10	0.87932	D	0	-11.6693	19.6361	0.95733	0.0:0.0:1.0:0.0	.	442;429	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Q	379;429;427;137;442	ENSP00000337190:R379Q;ENSP00000353804:R429Q;ENSP00000253382:R442Q	ENSP00000253382:R442Q	R	+	2	0	ACSS2	32972802	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.425000	0.73370	2.878000	0.98634	0.650000	0.86243	CGG		0.592	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		66	368	0	0	0	1	0	66	368				
PGBD4	161779	broad.mit.edu	37	15	34395759	34395759	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395759T>C	ENST00000397766.2	+	1	1486	c.1027T>C	c.(1027-1029)Tta>Cta	p.L343L	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	343										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTTCAGAGAATTACATCAAAA	0.403																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(1027-1029)Tta>Cta		piggyBac transposable element derived 4							88.0	85.0	86.0					15																	34395759		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34395759T>C	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1027T>C	15.37:g.34395759T>C							p.L343L	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1486	+		all_lung(180;1.76e-08)	343					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.1027T>C	CCDS10033.1																																																																																				0.403	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			74	315	0	0	0	1	0	74	315				
MYADM	91663	broad.mit.edu	37	19	54377422	54377422	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377422C>T	ENST00000391769.2	+	3	919	c.639C>T	c.(637-639)tgC>tgT	p.C213C	MYADM_ENST00000336967.3_Silent_p.C213C|MYADM_ENST00000391770.4_Silent_p.C213C|MYADM_ENST00000391771.1_Silent_p.C213C|MYADM_ENST00000391768.2_Silent_p.C213C|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	213	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACGCCATCTGCTTCATCCTAG	0.627																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(637-639)tgC>tgT		myeloid-associated differentiation marker							150.0	129.0	136.0					19																	54377422		2203	4300	6503	SO:0001819	synonymous_variant	91663					integral to membrane		g.chr19:54377422C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.639C>T	19.37:g.54377422C>T						MYADM_ENST00000391770.4_Silent_p.C213C|MYADM_ENST00000391768.2_Silent_p.C213C|MYADM_ENST00000391771.1_Silent_p.C213C|MYADM_ENST00000336967.3_Silent_p.C213C	p.C213C	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	919	+	Ovarian(34;0.19)		213			MARVEL 2.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	c.639C>T	CCDS12866.1																																																																																				0.627	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		164	638	0	0	0	1	0	164	638				
ITSN1	6453	broad.mit.edu	37	21	35237530	35237530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35237530G>T	ENST00000381318.3	+	32	4254	c.3966G>T	c.(3964-3966)caG>caT	p.Q1322H	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1322	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGAGCGCACAGCTGCCGCACA	0.602																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3964-3966)caG>caT		intersectin 1 (SH3 domain protein)							50.0	38.0	42.0					21																	35237530		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35237530G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3966G>T	21.37:g.35237530G>T	ENSP00000370719:p.Gln1322His					ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H	p.Q1322H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			32	4254	+			1322			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3966G>T	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.784119|3.784119	0.70222|0.70222	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.27557	.|1.66;1.66;1.66;1.66	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39682|0.39682	0.1087|0.1087	N|N	0.10874|0.10874	0.06|0.06	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.98;0.98	T|T	0.41980|0.41980	-0.9478|-0.9478	5|10	.|0.40728	.|T	.|0.16	.|.	20.0079|20.0079	0.97439|0.97439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1317;1317;1322	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	S|H	58|1322;1322;1251;1317;1317	.|ENSP00000370719:Q1322H;ENSP00000370685:Q1322H;ENSP00000382301:Q1317H;ENSP00000387377:Q1317H	.|ENSP00000370685:Q1322H	A|Q	+|+	1|3	0|2	ITSN1|ITSN1	34159400|34159400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	5.200000|5.200000	0.65158|0.65158	2.726000|2.726000	0.93360|0.93360	0.561000|0.561000	0.74099|0.74099	GCT|CAG		0.602	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		20	117	1	0	2.94398e-08	1	3.0722e-08	20	117				
CCDC173	129881	broad.mit.edu	37	2	170505813	170505813	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170505813G>T	ENST00000447353.1	-	8	1301	c.1196C>A	c.(1195-1197)gCt>gAt	p.A399D		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	399																	TTGTTCTTTAGCCTCTATTTT	0.343																																						ENST00000447353.1																			0											c.(1195-1197)gCt>gAt		coiled-coil domain containing 173							122.0	110.0	114.0					2																	170505813		1823	4096	5919	SO:0001583	missense	129881							g.chr2:170505813G>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1196C>A	2.37:g.170505813G>T	ENSP00000391504:p.Ala399Asp						p.A399D	NM_001085447.1	NP_001078916.1					8	1301	-								Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.1196C>A	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	1.356	-0.590148	0.03799	.	.	ENSG00000154479	ENST00000447353	T	0.08634	3.07	4.98	0.65	0.17812	.	.	.	.	.	T	0.06096	0.0158	L	0.43152	1.355	0.43527	D	0.995805	B	0.06786	0.001	B	0.10450	0.005	T	0.35773	-0.9775	9	0.15499	T	0.54	.	4.8473	0.13519	0.0756:0.2475:0.506:0.1709	.	399	Q0VFZ6	CB077_HUMAN	D	399	ENSP00000391504:A399D	ENSP00000391504:A399D	A	-	2	0	C2orf77	170214059	0.909000	0.30893	0.496000	0.27539	0.954000	0.61252	1.207000	0.32333	-0.116000	0.11893	-0.499000	0.04595	GCT		0.343	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		53	198	1	0	3.8688e-20	1	4.32843e-20	53	198				
LIMA1	51474	broad.mit.edu	37	12	50575804	50575804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575804G>A	ENST00000341247.4	-	10	1306	c.1157C>T	c.(1156-1158)gCa>gTa	p.A386V	LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000547825.1_Missense_Mutation_p.A84V|LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V|LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	386					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGTCTCTCTTGCAGGTGCCTG	0.468																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(250-252)gCa>gTa		LIM domain and actin binding 1							81.0	79.0	80.0					12																	50575804		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50575804G>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1157C>T	12.37:g.50575804G>A	ENSP00000340184:p.Ala386Val					LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000341247.4_Missense_Mutation_p.A386V|LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V	p.A84V	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			4	1520	-			386					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.251C>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	7.352	0.623152	0.14193	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84298	-1.08;-1.09;-1.41;-1.83;-1.11;-1.41;-1.4	5.49	2.53	0.30540	Zinc finger, LIM-type (1);	0.325550	0.35320	N	0.003281	T	0.81192	0.4771	M	0.69823	2.125	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.64947	-0.6287	10	0.18710	T	0.47	.	10.2094	0.43132	0.2881:0.0:0.7119:0.0	.	396;386;225	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	V	83;84;226;387;386;227;225;305	ENSP00000448463:A83V;ENSP00000448706:A84V;ENSP00000450266:A226V;ENSP00000378400:A387V;ENSP00000340184:A386V;ENSP00000448779:A227V;ENSP00000450087:A225V	ENSP00000340184:A386V	A	-	2	0	LIMA1	48862071	0.219000	0.23619	0.606000	0.28943	0.973000	0.67179	1.043000	0.30316	0.741000	0.32674	0.655000	0.94253	GCA		0.468	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		20	332	0	0	0	1	0	20	332				
PRR27	401137	broad.mit.edu	37	4	71024336	71024336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024336G>A	ENST00000344526.5	+	3	556	c.367G>A	c.(367-369)Gca>Aca	p.A123T	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		123	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCAGCTGCAGCACCCGCTGC	0.577																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(367-369)Gca>Aca		chromosome 4 open reading frame 40							101.0	107.0	105.0					4																	71024336		2203	4300	6503	SO:0001583	missense	401137					extracellular region		g.chr4:71024336G>A																												ENST00000344526.5:c.367G>A	4.37:g.71024336G>A	ENSP00000343172:p.Ala123Thr					C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T|C4orf40_ENST00000502441.2_3'UTR	p.A123T	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	556	+			123			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.367G>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648313	0.29336	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32753	1.44;1.44	4.76	2.04	0.26737	.	.	.	.	.	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.59487	0.858	T	0.08743	-1.0707	9	0.40728	T	0.16	-0.1649	6.191	0.20524	0.3191:0.0:0.6809:0.0	.	123	Q6MZM9	CD040_HUMAN	T	123	ENSP00000426249:A123T;ENSP00000343172:A123T	ENSP00000343172:A123T	A	+	1	0	C4orf40	71058925	0.003000	0.15002	0.000000	0.03702	0.078000	0.17371	0.868000	0.27982	0.548000	0.28955	0.609000	0.83330	GCA		0.577	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			149	711	0	0	0	1	0	149	711				
TTN	7273	broad.mit.edu	37	2	179569378	179569378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179569378G>T	ENST00000591111.1	-	103	29094	c.28870C>A	c.(28870-28872)Ctg>Atg	p.L9624M	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L9941M|TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13700					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)			CTGGGTTCCAGTTTTTCAGTT	0.343																																						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.(29821-29823)Ctg>Atg		titin							78.0	68.0	71.0					2																	179569378		1831	4086	5917	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569378G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28870C>A	2.37:g.179569378G>T	ENSP00000465570:p.Leu9624Met					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L9624M	p.L9941M	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)		105	30045	-			9624			Pro-rich.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.29821C>A		.	.	.	.	.	.	.	.	.	.	G	10.96	1.497968	0.26861	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.93	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82282	0.5003	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83671	0.0166	9	0.87932	D	0	.	9.1462	0.36935	0.2633:0.0:0.7367:0.0	.	9624	Q8WZ42	TITIN_HUMAN	M	8697	ENSP00000343764:L8697M	ENSP00000343764:L8697M	L	-	1	2	TTN	179277623	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.691000	0.54720	1.529000	0.49120	0.655000	0.94253	CTG		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	98	1	0	5.4927e-09	1	5.7613e-09	8	98				
GPR56	9289	broad.mit.edu	37	16	57693425	57693425	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57693425A>G	ENST00000388812.4	+	11	1845	c.1405A>G	c.(1405-1407)Aca>Gca	p.T469A	GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A|GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000562631.1_Missense_Mutation_p.T463A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	469					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GGTGGCCCTGACAGGCTCTGA	0.622																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1387-1389)Aca>Gca		G protein-coupled receptor 56							70.0	58.0	62.0					16																	57693425		2198	4300	6498	SO:0001583	missense	0				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57693425A>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1405A>G	16.37:g.57693425A>G	ENSP00000373464:p.Thr469Ala					GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000388812.4_Missense_Mutation_p.T469A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A	p.T463A			Q9Y653	GPR56_HUMAN			11	1919	+			469					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.1387A>G	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	A	3.998	-0.003116	0.07773	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.9	-3.91	0.04168	GPCR, family 2-like (1);	1.372880	0.04900	N	0.451228	T	0.20577	0.0495	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.002;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.002;0.003;0.003	T	0.10359	-1.0633	10	0.27785	T	0.31	.	0.6742	0.00864	0.4539:0.1509:0.1772:0.218	.	288;468;463;469;299	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	A	463;469;463;469;463;288;299;469	ENSP00000373465:T463A;ENSP00000373464:T469A;ENSP00000444415:T463A;ENSP00000398034:T469A;ENSP00000444911:T463A;ENSP00000438006:T288A;ENSP00000369016:T299A;ENSP00000369018:T469A	ENSP00000369016:T299A	T	+	1	0	GPR56	56250926	0.000000	0.05858	0.015000	0.15790	0.489000	0.33432	-1.526000	0.02229	-0.598000	0.05806	0.482000	0.46254	ACA		0.622	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			79	336	0	0	0	1	0	79	336				
ZNF492	57615	broad.mit.edu	37	19	22847718	22847718	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847718C>A	ENST00000456783.2	+	4	1491	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATAATTCATACTGGAGAGAAA	0.378																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1246-1248)aCt>aAt		zinc finger protein 492							39.0	41.0	40.0					19																	22847718		2114	4253	6367	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847718C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1247C>A	19.37:g.22847718C>A	ENSP00000413660:p.Thr416Asn						p.T416N	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1491	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	416					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1247C>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.747685	0.49257	.	.	ENSG00000229676	ENST00000456783	T	0.26067	1.76	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34803	0.0910	L	0.53729	1.69	0.32544	N	0.533216	P	0.47545	0.897	P	0.55303	0.773	T	0.46470	-0.9189	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	416	Q9P255	ZN492_HUMAN	N	416	ENSP00000413660:T416N	ENSP00000413660:T416N	T	+	2	0	ZNF492	22639558	0.714000	0.27936	0.069000	0.20011	0.069000	0.16628	1.214000	0.32419	0.269000	0.21961	0.274000	0.19336	ACT		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		23	309	1	0	3.73988e-18	1	4.14332e-18	23	309				
LVRN	206338	broad.mit.edu	37	5	115361774	115361774	+	Silent	SNP	C	C	T	rs367801166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115361774C>T	ENST00000357872.4	+	20	3056	c.2932C>T	c.(2932-2934)Cta>Tta	p.L978L	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		978						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAACAAGAAGCTAAGTGCCAG	0.403																																						ENST00000357872.4																			0											c.(2932-2934)Cta>Tta									91.0	81.0	85.0					5																	115361774		2202	4300	6502	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115361774C>T																												ENST00000357872.4:c.2932C>T	5.37:g.115361774C>T						CTD-2287O16.3_ENST00000600981.3_Intron	p.L978L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			20	3056	+			978					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.2932C>T	CCDS4124.1																																																																																				0.403	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			5	187	0	0	0	1	0	5	187				
IGSF9B	22997	broad.mit.edu	37	11	133790142	133790142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790142C>T	ENST00000321016.8	-	18	3708	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1160S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1160	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGCTGGGGCCGCCGTGCGCC	0.687																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3478-3480)Ggc>Agc		immunoglobulin superfamily, member 9B							31.0	35.0	33.0					11																	133790142		1911	4108	6019	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790142C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3478G>A	11.37:g.133790142C>T	ENSP00000317980:p.Gly1160Ser					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1160S	p.G1160S			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3708	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1160			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3478G>A		.	.	.	.	.	.	.	.	.	.	C	12.56	1.975668	0.34848	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.63417	0.3;-0.04	5.08	5.08	0.68730	.	0.000000	0.45606	D	0.000349	T	0.40862	0.1134	N	0.04508	-0.205	0.44323	D	0.997206	B	0.28082	0.2	B	0.20184	0.028	T	0.32348	-0.9910	10	0.28530	T	0.3	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	1160	Q9UPX0	TUTLB_HUMAN	S	1160;1002	ENSP00000317980:G1160S;ENSP00000436552:G1002S	ENSP00000317980:G1160S	G	-	1	0	IGSF9B	133295352	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.422000	0.59854	2.358000	0.79984	0.455000	0.32223	GGC		0.687	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		87	370	0	0	0	1	0	87	370				
GJA9	81025	broad.mit.edu	37	1	39340391	39340391	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39340391T>C	ENST00000360786.3	-	1	1632	c.1380A>G	c.(1378-1380)ggA>ggG	p.G460G	MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Silent_p.G460G|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	460					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATTGAGAATCTCCTTGTGAAG	0.488																																						ENST00000357771.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1378-1380)ggA>ggG		gap junction protein, alpha 9, 59kDa							126.0	122.0	123.0					1																	39340391		2203	4300	6503	SO:0001819	synonymous_variant	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340391T>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1380A>G	1.37:g.39340391T>C						GJA9_ENST00000360786.3_Silent_p.G460G|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000433671.2_RNA	p.G460G	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1660	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	460					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	37	c.1380A>G	CCDS432.1																																																																																				0.488	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		44	315	0	0	0	1	0	44	315				
CALU	813	broad.mit.edu	37	7	128394377	128394377	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128394377G>T	ENST00000249364.4	+	3	385	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	CALU_ENST00000542996.2_Intron|CALU_ENST00000449187.2_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000535623.1_Missense_Mutation_p.D103Y|CALU_ENST00000538546.1_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	95	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						TGAGCTCAAAGACTGGATTAA	0.448																																						ENST00000535623.1																			0				kidney(2)|large_intestine(3)|lung(5)	10						c.(307-309)Gac>Tac		calumenin							131.0	117.0	122.0					7																	128394377		2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128394377G>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.283G>T	7.37:g.128394377G>T	ENSP00000249364:p.Asp95Tyr					CALU_ENST00000449187.2_Intron|CALU_ENST00000542996.2_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y|CALU_ENST00000249364.4_Missense_Mutation_p.D95Y|CALU_ENST00000538546.1_Intron	p.D103Y	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN			4	1250	+			95			EF-hand 1.		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.307G>T	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536564|3.536564	0.65085|0.65085	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000342367|ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	.|T;T;T;T	.|0.70869	.|-0.52;-0.52;-0.52;-0.52	6.11|6.11	6.11|6.11	0.99139|0.99139	.|EF-hand-like domain (1);	.|0.996520	.|0.08137	.|N	.|0.992275	.|T	.|0.77089	.|0.4079	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	.|B	.|0.26120	.|0.142	.|B	.|0.41988	.|0.372	.|T	.|0.63607	.|-0.6599	.|10	.|0.54805	.|T	.|0.06	.|-4.93	18.228|18.228	0.89924|0.89924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95	.|O43852	.|CALU_HUMAN	.|Y	-1|103;95;95;95;103	.|ENSP00000439139:D103Y;ENSP00000442110:D95Y;ENSP00000249364:D95Y;ENSP00000420381:D103Y	.|ENSP00000249364:D95Y	.|D	+|+	.|1	.|0	CALU|CALU	128181613|128181613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.547000|2.547000	0.45786|0.45786	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	.|GAC		0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		65	333	1	0	2.165e-29	1	2.52906e-29	65	333				
IRF8	3394	broad.mit.edu	37	16	85952190	85952190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85952190G>A	ENST00000268638.5	+	7	1191	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	257					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGGCCGACGCCATCCCCAG	0.726																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(769-771)Gcc>Acc		interferon regulatory factor 8							14.0	18.0	17.0					16																	85952190		2154	4243	6397	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952190G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.769G>A	16.37:g.85952190G>A	ENSP00000268638:p.Ala257Thr					IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	p.A257T	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			7	1191	+		Prostate(104;0.0771)	257					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.769G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032788	0.19590	.	.	ENSG00000140968	ENST00000268638	D	0.95272	-3.66	5.1	-10.2	0.00374	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.932551	0.09287	N	0.822867	D	0.82540	0.5059	N	0.21583	0.68	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.70421	-0.4876	10	0.14656	T	0.56	-2.6013	2.0591	0.03587	0.46:0.1642:0.21:0.1658	.	257	Q02556	IRF8_HUMAN	T	257	ENSP00000268638:A257T	ENSP00000268638:A257T	A	+	1	0	IRF8	84509691	0.000000	0.05858	0.029000	0.17559	0.913000	0.54294	-0.493000	0.06459	-2.503000	0.00509	-0.142000	0.14014	GCC		0.726	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		78	229	0	0	0	1	0	78	229				
CHRD	8646	broad.mit.edu	37	3	184102964	184102964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184102964C>T	ENST00000204604.1	+	14	2002	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	CHRD_ENST00000545352.1_Missense_Mutation_p.L216F|CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|CHRD_ENST00000450923.1_Missense_Mutation_p.L586F|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	586	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTGCCCACCTCCTTGGGCC	0.592																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1756-1758)Ctc>Ttc		chordin							83.0	86.0	85.0					3																	184102964		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184102964C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1756C>T	3.37:g.184102964C>T	ENSP00000204604:p.Leu586Phe					CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|CHRD_ENST00000450923.1_Missense_Mutation_p.L586F|CHRD_ENST00000545352.1_Missense_Mutation_p.L216F|EIF2B5_ENST00000444495.1_Intron	p.L586F	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	2002	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		586			CHRD 4.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1756C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191675	0.78902	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.29	5.29	0.74685	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.39692	1.235	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.955;1.0	D;D;P;D	0.91635	0.999;0.991;0.817;0.995	T	0.55198	-0.8178	10	0.51188	T	0.08	-22.5074	16.8087	0.85712	0.0:1.0:0.0:0.0	.	216;546;586;586	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	F	586;586;546;216;299	ENSP00000204604:L586F;ENSP00000408972:L586F;ENSP00000334036:L546F;ENSP00000442948:L216F	ENSP00000204604:L586F	L	+	1	0	CHRD	185585658	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.067000	0.64357	2.662000	0.90505	0.655000	0.94253	CTC		0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		149	638	0	0	0	1	0	149	638				
ATP5G3	518	broad.mit.edu	37	2	176046212	176046212	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176046212C>A	ENST00000409194.1	-	2	55		c.e2-1		ATP5G3_ENST00000284727.4_Intron|ATP5G3_ENST00000392541.3_5'UTR			P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)						ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGAAAAGAGGCTTAAGGTCAA	0.657																																					GBM(30;387 605 18606 28805 47989)	ENST00000409194.1																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.e2-1		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)																																				SO:0001630	splice_region_variant	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176046212C>A	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000409194.1:c.90-1G>T	2.37:g.176046212C>A						ATP5G3_ENST00000284727.4_Intron|ATP5G3_ENST00000392541.3_5'UTR				P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		2	55	-								B2R4Z0|D3DPF0|Q4ZFX7	Splice_Site	SNP	ENST00000409194.1	37		CCDS2263.1																																																																																				0.657	ATP5G3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334493.1	NM_001689	Intron	12	46	1	0	3.07112e-06	1	3.16074e-06	12	46				
POLR2A	5430	broad.mit.edu	37	17	7405894	7405894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7405894C>T	ENST00000322644.6	+	16	3029	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	877					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAGTACGACGCGACTGTGCGG	0.577																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2629-2631)gCg>gTg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							102.0	89.0	94.0					17																	7405894		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405894C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2630C>T	17.37:g.7405894C>T	ENSP00000314949:p.Ala877Val						p.A877V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			16	3029	+		Prostate(122;0.173)	877					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2630C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525135	0.44969	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.67698	-0.28	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 5 (1);	0.129663	0.49916	D	0.000131	T	0.66336	0.2779	L	0.43923	1.385	0.80722	D	1	P	0.38642	0.641	B	0.41666	0.363	T	0.69072	-0.5242	10	0.87932	D	0	-8.9664	18.8608	0.92271	0.0:1.0:0.0:0.0	.	877	P24928	RPB1_HUMAN	V	833;877	ENSP00000314949:A877V	ENSP00000314949:A877V	A	+	2	0	SLC35G6	7346618	1.000000	0.71417	0.183000	0.23137	0.125000	0.20455	4.287000	0.59001	2.761000	0.94854	0.655000	0.94253	GCG		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		17	389	0	0	0	1	0	17	389				
ZNF709	163051	broad.mit.edu	37	19	12575729	12575729	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12575729T>C	ENST00000397732.3	-	4	1178	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTACAATCATAGGGTTTCTC	0.358																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1006-1008)tAt>tGt		zinc finger protein 709							66.0	73.0	71.0					19																	12575729		2194	4298	6492	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575729T>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1007A>G	19.37:g.12575729T>C	ENSP00000380840:p.Tyr336Cys					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C	p.Y336C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1178	-			336					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1007A>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.349899	0.41599	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.25414	1.8;1.8	2.71	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32314	N	0.006261	T	0.31136	0.0787	M	0.78344	2.41	0.09310	N	1	P	0.36125	0.538	B	0.43194	0.411	T	0.25779	-1.0122	10	0.87932	D	0	.	4.0244	0.09680	0.0:0.1249:0.2126:0.6625	.	336	Q8N972	ZN709_HUMAN	C	336	ENSP00000380840:Y336C;ENSP00000404127:Y336C	ENSP00000404127:Y336C	Y	-	2	0	ZNF709;CTD-2192J16.17	12436729	0.002000	0.14202	0.664000	0.29753	0.994000	0.84299	0.025000	0.13577	0.481000	0.27557	0.383000	0.25322	TAT		0.358	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		29	401	0	0	0	1	0	29	401				
ERC2	26059	broad.mit.edu	37	3	55768825	55768825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55768825G>A	ENST00000288221.6	-	15	2941	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	896						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTACTAGTCGGTCTTTTTCC	0.478																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2686-2688)Cga>Tga		ELKS/RAB6-interacting/CAST family member 2							107.0	101.0	103.0					3																	55768825		1871	4110	5981	SO:0001587	stop_gained	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55768825G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2686C>T	3.37:g.55768825G>A	ENSP00000288221:p.Arg896*						p.R896*	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	15	2941	-			896					Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	ENST00000288221.6	37	c.2686C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	41	8.845178	0.98976	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.67	3.77	0.43336	.	0.063683	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0675	7.1764	0.25747	0.0853:0.0:0.5892:0.3255	.	.	.	.	X	896	.	ENSP00000288221:R896X	R	-	1	2	ERC2	55743865	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.704000	0.68347	1.394000	0.46624	0.655000	0.94253	CGA		0.478	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		22	141	0	0	0	1	0	22	141				
HSPA2	3306	broad.mit.edu	37	14	65008035	65008035	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65008035C>T	ENST00000394709.1	+	2	544	c.468C>T	c.(466-468)cgC>cgT	p.R156R	HSPA2_ENST00000247207.6_Silent_p.R156R|HSPA2_ENST00000554883.1_Intron|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	156					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTCGCAGCGCCAGGCCACCA	0.637																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(466-468)cgC>cgT		heat shock 70kDa protein 2							44.0	45.0	44.0					14																	65008035		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008035C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.468C>T	14.37:g.65008035C>T						HSPA2_ENST00000394709.1_Silent_p.R156R|HSPA2_ENST00000554883.1_Intron	p.R156R	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	850	+			156					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.468C>T	CCDS9766.1																																																																																				0.637	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			63	293	0	0	0	1	0	63	293				
COASY	80347	broad.mit.edu	37	17	40714637	40714637	+	5'UTR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40714637C>T	ENST00000393818.2	+	0	453				COASY_ENST00000590958.1_Silent_p.G28G|COASY_ENST00000449624.1_Intron|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000421097.2_5'UTR	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase						cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGGCCTGGGCAGCATGGCCG	0.701																																						ENST00000590958.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(82-84)ggC>ggT		CoA synthase							26.0	30.0	28.0					17																	40714637		2203	4298	6501	SO:0001623	5_prime_UTR_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714637C>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.-4C>T	17.37:g.40714637C>T						COASY_ENST00000421097.2_5'UTR|COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000393818.2_5'UTR	p.G28G			Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	3	209	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	0					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.84C>T	CCDS11429.1																																																																																				0.701	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		67	247	0	0	0	1	0	67	247				
CELSR2	1952	broad.mit.edu	37	1	109793139	109793139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109793139G>A	ENST00000271332.3	+	1	499	c.438G>A	c.(436-438)caG>caA	p.Q146Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	146					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCAGATGCCAGTCCTGCAAGC	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(436-438)caG>caA		cadherin, EGF LAG seven-pass G-type receptor 2							42.0	51.0	48.0					1																	109793139		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793139G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.438G>A	1.37:g.109793139G>A							p.Q146Q	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	499	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	146					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.438G>A	CCDS796.1																																																																																				0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		36	279	0	0	0	1	0	36	279				
STARD5	80765	broad.mit.edu	37	15	81614779	81614779	+	Silent	SNP	G	G	A	rs142670896	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81614779G>A	ENST00000302824.6	-	3	277	c.252C>T	c.(250-252)acC>acT	p.T84T	RP11-761I4.3_ENST00000560973.1_RNA|STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000559781.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	84	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						TTTCAAAACCGGTCACATTCT	0.483													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000302824.6																			0				large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						c.(250-252)acC>acT		StAR-related lipid transfer (START) domain containing 5		G		3,4403	6.2+/-15.9	0,3,2200	160.0	133.0	142.0		252	4.5	0.0	15	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous	STARD5	NM_181900.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		84/214	81614779	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81614779G>A	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.252C>T	15.37:g.81614779G>A						STARD5_ENST00000559913.1_5'UTR	p.T84T	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN			3	277	-			84			START.		P59094	Silent	SNP	ENST00000302824.6	37	c.252C>T	CCDS10318.1																																																																																				0.483	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			33	385	0	0	0	1	0	33	385				
CDON	50937	broad.mit.edu	37	11	125853983	125853983	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125853983G>A	ENST00000392693.3	-	16	2906	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	CDON_ENST00000263577.7_Missense_Mutation_p.R927C|CDON_ENST00000531738.1_Missense_Mutation_p.R304C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	927					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCAGGAACACGTTTCACTAGT	0.453																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2779-2781)Cgt>Tgt		cell adhesion associated, oncogene regulated							38.0	39.0	38.0					11																	125853983		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125853983G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2779C>T	11.37:g.125853983G>A	ENSP00000376458:p.Arg927Cys					CDON_ENST00000263577.7_Missense_Mutation_p.R927C|CDON_ENST00000531738.1_Missense_Mutation_p.R304C	p.R927C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	16	2906	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	927					O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.2779C>T	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948655	0.73787	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.70282	-0.46;0.22;-0.47	5.89	5.89	0.94794	.	0.000000	0.49916	D	0.000125	D	0.83078	0.5176	M	0.70595	2.14	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.943	D	0.84068	0.0378	10	0.72032	D	0.01	-22.7941	15.0262	0.71671	0.0:0.0:0.8578:0.1422	.	927;927;304	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	C	927;304;927	ENSP00000376458:R927C;ENSP00000432901:R304C;ENSP00000263577:R927C	ENSP00000263577:R927C	R	-	1	0	CDON	125359193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.783000	0.95769	0.655000	0.94253	CGT		0.453	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		36	155	0	0	0	1	0	36	155				
BAHD1	22893	broad.mit.edu	37	15	40754438	40754438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40754438G>A	ENST00000416165.1	+	3	1831	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.R586H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	587	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGTCGCCGCCGCACTAATGGC	0.647																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1756-1758)cGc>cAc		bromo adjacent homology domain containing 1							75.0	86.0	82.0					15																	40754438		2154	4204	6358	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40754438G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1760G>A	15.37:g.40754438G>A	ENSP00000396976:p.Arg587His					BAHD1_ENST00000416165.1_Missense_Mutation_p.R587H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H	p.R586H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	3	2016	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	587			Arg-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1757G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.235644	0.58886	.	.	ENSG00000140320	ENST00000416165	T	0.18016	2.24	5.74	3.82	0.43975	.	0.250811	0.38436	N	0.001682	T	0.15912	0.0383	N	0.08118	0	0.24179	N	0.995593	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.58660	0.843;0.7;0.843	T	0.04481	-1.0948	10	0.52906	T	0.07	-13.8077	9.1975	0.37237	0.0:0.3781:0.5076:0.1143	.	587;587;586	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	587	ENSP00000396976:R587H	ENSP00000396976:R587H	R	+	2	0	BAHD1	38541730	0.995000	0.38212	1.000000	0.80357	0.559000	0.35586	3.604000	0.54081	1.460000	0.47911	-0.196000	0.12772	CGC		0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		178	810	0	0	0	1	0	178	810				
DYRK4	8798	broad.mit.edu	37	12	4714099	4714099	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4714099C>T	ENST00000540757.2	+	9	961	c.801C>T	c.(799-801)agC>agT	p.S267S	DYRK4_ENST00000010132.5_Silent_p.S267S|RP11-500M8.7_ENST00000536588.1_5'Flank|DYRK4_ENST00000543431.1_Silent_p.S267S|DYRK4_ENST00000545342.1_5'Flank	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACATCCAAAGCCGGTTCTACC	0.562											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(799-801)agC>agT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							61.0	59.0	60.0					12																	4714099		2203	4300	6503	SO:0001819	synonymous_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4714099C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.801C>T	12.37:g.4714099C>T			OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	DYRK4_ENST00000543431.1_Silent_p.S267S|DYRK4_ENST00000010132.5_Silent_p.S267S	p.S267S	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		9	961	+			267			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	c.801C>T	CCDS8530.1																																																																																				0.562	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			15	316	0	0	0	1	0	15	316				
CCDC40	55036	broad.mit.edu	37	17	78032413	78032413	+	Missense_Mutation	SNP	C	C	T	rs370720427		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032413C>T	ENST00000397545.4	+	8	1307	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	427					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGCCGAGACGGAGAGGATC	0.502																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1279-1281)aCg>aTg		coiled-coil domain containing 40		C	MET/THR	0,4146		0,0,2073	63.0	68.0	66.0		1280	-7.3	0.0	17		66	2,8406		0,2,4202	no	missense	CCDC40	NM_017950.3	81	0,2,6275	TT,TC,CC		0.0238,0.0,0.0159	benign	427/1143	78032413	2,12552	2073	4204	6277	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78032413C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1280C>T	17.37:g.78032413C>T	ENSP00000380679:p.Thr427Met					CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M|CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M	p.T427M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		8	1307	+	all_neural(118;0.167)		427					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1280C>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	2.861	-0.236089	0.05944	0.0	2.38E-4	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.48201	0.85;1.95;0.82;0.85	4.97	-7.27	0.01461	.	.	.	.	.	T	0.24812	0.0602	N	0.12182	0.205	0.09310	N	1	B;B;B	0.30584	0.109;0.089;0.286	B;B;B	0.18263	0.016;0.006;0.021	T	0.05257	-1.0896	9	0.31617	T	0.26	-6.0308	16.0752	0.80965	0.0:0.3129:0.0:0.6871	.	427;427;210	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	M	427	ENSP00000364011:T427M;ENSP00000269318:T427M;ENSP00000364010:T427M;ENSP00000380679:T427M	ENSP00000269318:T427M	T	+	2	0	CCDC40	75647008	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.337000	0.02657	-1.470000	0.01888	-0.253000	0.11424	ACG		0.502	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		43	184	0	0	0	1	0	43	184				
IFT122	55764	broad.mit.edu	37	3	129238491	129238491	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238491G>T	ENST00000348417.2	+	29	3629	c.3552G>T	c.(3550-3552)aaG>aaT	p.K1184N	IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000296266.3_Missense_Mutation_p.K1235N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N|IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000440957.2_Missense_Mutation_p.K975N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1184					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCCTCATCAAGCGATGGCCCC	0.652																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3703-3705)aaG>aaT		intraflagellar transport 122 homolog (Chlamydomonas)							110.0	90.0	97.0					3																	129238491		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129238491G>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3552G>T	3.37:g.129238491G>T	ENSP00000324005:p.Lys1184Asn					IFT122_ENST00000440957.2_Missense_Mutation_p.K975N|IFT122_ENST00000348417.2_Missense_Mutation_p.K1184N|IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N	p.K1235N	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			30	3897	+			1184					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.3705G>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561673	0.27915	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.61510	0.75;0.1;0.24;0.29;0.9;0.89;0.74;0.31	5.97	4.2	0.49525	.	0.043465	0.85682	D	0.000000	T	0.68805	0.3041	M	0.70595	2.14	0.80722	D	1	D;D;D;P;P;P;P;P;D;D	0.67145	0.989;0.992;0.993;0.93;0.791;0.69;0.69;0.793;0.981;0.996	P;D;P;P;B;B;B;P;P;P	0.64687	0.787;0.928;0.738;0.615;0.335;0.335;0.335;0.536;0.617;0.866	T	0.65516	-0.6149	10	0.21014	T	0.42	-25.1101	10.6061	0.45394	0.2547:0.0:0.7453:0.0	.	975;510;1177;572;1061;1026;1074;1125;1184;1235	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	N	1125;1235;1177;1034;1061;1074;1184;1026;975	ENSP00000323973:K1125N;ENSP00000296266:K1235N;ENSP00000425536:K1177N;ENSP00000410946:K1034N;ENSP00000422179:K1061N;ENSP00000324165:K1074N;ENSP00000324005:K1184N;ENSP00000401569:K975N	ENSP00000296266:K1235N	K	+	3	2	IFT122	130721181	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	0.995000	0.29706	0.881000	0.35993	0.655000	0.94253	AAG		0.652	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		72	329	1	0	1.52808e-22	1	1.72976e-22	72	329				
BFSP2	8419	broad.mit.edu	37	3	133119358	133119358	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133119358C>A	ENST00000302334.2	+	1	520	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	144	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGAGCAAAGCCACACGCTCG	0.612																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(430-432)gCc>gAc		beaded filament structural protein 2, phakinin							30.0	36.0	34.0					3																	133119358		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119358C>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.431C>A	3.37:g.133119358C>A	ENSP00000304987:p.Ala144Asp						p.A144D	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	520	+			144			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.431C>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251923	0.80135	.	.	ENSG00000170819	ENST00000302334	D	0.89343	-2.5	5.84	4.96	0.65561	Filament (1);	0.201932	0.34906	N	0.003600	D	0.90920	0.7146	L	0.47190	1.495	0.43766	D	0.996284	D	0.58620	0.983	P	0.61658	0.892	D	0.88294	0.2945	10	0.16896	T	0.51	-15.2148	16.8975	0.86104	0.0:0.8717:0.1283:0.0	.	144	Q13515	BFSP2_HUMAN	D	144	ENSP00000304987:A144D	ENSP00000304987:A144D	A	+	2	0	BFSP2	134602048	1.000000	0.71417	0.203000	0.23512	0.944000	0.59088	6.969000	0.76092	1.454000	0.47793	0.563000	0.77884	GCC		0.612	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			42	162	1	0	8.69298e-16	1	9.51602e-16	42	162				
SIX4	51804	broad.mit.edu	37	14	61186943	61186943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186943C>T	ENST00000216513.4	-	2	1143	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	362					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTAAGGAAGACAGGTGAAGTA	0.403																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1084-1086)Gtc>Atc		SIX homeobox 4							94.0	91.0	92.0					14																	61186943		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61186943C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1084G>A	14.37:g.61186943C>T	ENSP00000216513:p.Val362Ile						p.V362I	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	1143	-			362					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1084G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377563	0.82682	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.91740	-2.9;0.11	5.62	5.62	0.85841	.	0.066731	0.64402	D	0.000014	D	0.93779	0.8011	L	0.29908	0.895	0.53688	D	0.999974	D;P	0.67145	0.996;0.9	D;B	0.77557	0.99;0.36	D	0.94100	0.7361	10	0.56958	D	0.05	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	354;362	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	362;35;354	ENSP00000216513:V362I;ENSP00000451537:V35I	ENSP00000216513:V362I	V	-	1	0	SIX4	60256696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.660000	0.90430	0.655000	0.94253	GTC		0.403	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			17	401	0	0	0	1	0	17	401				
LRRC37B	114659	broad.mit.edu	37	17	30349743	30349743	+	Silent	SNP	C	C	T	rs146053152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30349743C>T	ENST00000341671.7	+	1	1583	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000327564.7_Silent_p.C553C|LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000543378.2_Silent_p.C444C|LRRC37B_ENST00000394713.3_Silent_p.C526C	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	526						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCTGCACCTGCGGAGATGAGA	0.532																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1657-1659)tgC>tgT		leucine rich repeat containing 37B		C		0,4402		0,0,2201	75.0	69.0	71.0		1578	-1.8	0.0	17	dbSNP_134	71	2,8586		0,2,4292	no	coding-synonymous	LRRC37B	NM_052888.2		0,2,6493	TT,TC,CC		0.0233,0.0,0.0154		526/948	30349743	2,12988	2201	4294	6495	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30349743C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1578C>T	17.37:g.30349743C>T						LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Silent_p.C444C|LRRC37B_ENST00000394713.3_Silent_p.C526C|LRRC37B_ENST00000341671.7_Silent_p.C526C	p.C553C			Q96QE4	LR37B_HUMAN			1	1720	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	526					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.1659C>T	CCDS32609.1																																																																																				0.532	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		109	493	0	0	0	1	0	109	493				
LAMA4	3910	broad.mit.edu	37	6	112454579	112454579	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112454579A>G	ENST00000230538.7	-	27	4065	c.3668T>C	c.(3667-3669)gTt>gCt	p.V1223A	LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A|LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1223	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCATAACCAACTCCCAGGGT	0.423																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(3667-3669)gTt>gCt		laminin, alpha 4							128.0	129.0	129.0					6																	112454579		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112454579A>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3668T>C	6.37:g.112454579A>G	ENSP00000230538:p.Val1223Ala					LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A|LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A	p.V1223A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	27	4065	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1223			Laminin G-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3668T>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796977	0.70567	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.89	5.89	0.94794	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.156231	0.56097	D	0.000034	T	0.74268	0.3694	L	0.38175	1.15	0.80722	D	1	P;P	0.41131	0.622;0.739	B;B	0.43251	0.235;0.413	T	0.80082	-0.1531	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1223;1216	Q16363;Q16363-2	LAMA4_HUMAN;.	A	1223;1216;1216;1216	ENSP00000230538:V1223A;ENSP00000429488:V1216A;ENSP00000374114:V1216A;ENSP00000416470:V1216A	ENSP00000230538:V1223A	V	-	2	0	LAMA4	112561272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.246000	0.74042	0.533000	0.62120	GTT		0.423	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		93	551	0	0	0	1	0	93	551				
FLG	2312	broad.mit.edu	37	1	152283914	152283914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152283914G>A	ENST00000368799.1	-	3	3483	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3448-3450)Cga>Tga		filaggrin							195.0	235.0	221.0					1																	152283914		2203	4296	6499	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283914G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3448C>T	1.37:g.152283914G>A	ENSP00000357789:p.Arg1150*					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1150*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3483	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1150			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3448C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.443577	0.97572	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.05	-6.11	0.02131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	1.8586	0.03184	0.1111:0.3099:0.282:0.2969	.	.	.	.	X	1150	.	ENSP00000357789:R1150X	R	-	1	2	FLG	150550538	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-8.221000	0.00023	-1.998000	0.00968	0.186000	0.17326	CGA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		100	2250	0	0	0	1	0	100	2250				
VGLL1	51442	broad.mit.edu	37	X	135632947	135632947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135632947C>T	ENST00000370634.3	+	4	825	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	VGLL1_ENST00000470358.1_3'UTR|MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					ATATGTATCTCGTGGATCTGC	0.428																																						ENST00000370634.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(655-657)Cgt>Tgt		vestigial like 1 (Drosophila)							140.0	132.0	134.0					X																	135632947		2203	4300	6503	SO:0001583	missense	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135632947C>T	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.655C>T	X.37:g.135632947C>T	ENSP00000359668:p.Arg219Cys					VGLL1_ENST00000470358.1_3'UTR	p.R219C	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN			4	825	+	Acute lymphoblastic leukemia(192;0.000127)		219					Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	c.655C>T	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937268|1.937268	0.34189|0.34189	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634;ENST00000430688;ENST00000456412|ENST00000440515	T;T|T	0.60424|0.50277	0.74;0.19|0.75	5.15|5.15	-2.25|-2.25	0.06888|0.06888	.|.	1.249760|.	0.05308|.	N|.	0.524240|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.22983|.	0.078|.	B|.	0.11329|.	0.006|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|7	0.72032|0.02654	D|T	0.01|1	-0.0024|-0.0024	5.8179|5.8179	0.18506|0.18506	0.0:0.2538:0.4018:0.3444|0.0:0.2538:0.4018:0.3444	.|.	219|.	Q99990|.	VGLL1_HUMAN|.	C|L	219;76;21|136	ENSP00000359668:R219C;ENSP00000388868:R21C|ENSP00000398360:S136L	ENSP00000359668:R219C|ENSP00000398360:S136L	R|S	+|+	1|2	0|0	VGLL1|VGLL1	135460613|135460613	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.068000|-0.068000	0.11561|0.11561	-0.852000|-0.852000	0.04141|0.04141	0.600000|0.600000	0.82982|0.82982	CGT|TCG		0.428	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		35	267	0	0	0	1	0	35	267				
KLHDC7B	113730	broad.mit.edu	37	22	50987929	50987929	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50987929C>A	ENST00000395676.2	+	1	1468	c.1334C>A	c.(1333-1335)gCt>gAt	p.A445D	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	445										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCACGAGGCTGTGGCCTGC	0.662																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1333-1335)gCt>gAt		kelch domain containing 7B							67.0	70.0	69.0					22																	50987929		2200	4299	6499	SO:0001583	missense	113730							g.chr22:50987929C>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1334C>A	22.37:g.50987929C>A	ENSP00000379034:p.Ala445Asp						p.A445D	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1468	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	445						Missense_Mutation	SNP	ENST00000395676.2	37	c.1334C>A	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490482	0.84962	.	.	ENSG00000130487	ENST00000395676	T	0.70631	-0.5	5.35	4.31	0.51392	Kelch-type beta propeller (1);	0.000000	0.41294	U	0.000917	D	0.83857	0.5345	M	0.80616	2.505	0.42561	D	0.993145	D	0.89917	1.0	D	0.85130	0.997	D	0.86384	0.1731	10	0.87932	D	0	.	13.6955	0.62578	0.0:0.844:0.156:0.0	.	445	Q96G42	KLD7B_HUMAN	D	445	ENSP00000379034:A445D	ENSP00000379034:A445D	A	+	2	0	KLHDC7B	49334795	1.000000	0.71417	0.885000	0.34714	0.981000	0.71138	4.626000	0.61269	1.234000	0.43709	0.491000	0.48974	GCT		0.662	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		111	516	1	0	1.38358e-46	1	1.70057e-46	111	516				
ZEB2	9839	broad.mit.edu	37	2	145147139	145147139	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145147139T>C	ENST00000558170.2	-	10	4708	c.3524A>G	c.(3523-3525)gAt>gGt	p.D1175G	ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1175	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGTTTCGGGATCCGTATCCAT	0.493																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3523-3525)gAt>gGt		zinc finger E-box binding homeobox 2							245.0	229.0	234.0					2																	145147139		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147139T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3524A>G	2.37:g.145147139T>C	ENSP00000454157:p.Asp1175Gly					ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G	p.D1175G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4708	-			1175			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3524A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396880	0.83120	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15017	2.49;2.46;2.46	5.51	5.51	0.81932	.	0.091701	0.64402	D	0.000001	T	0.11367	0.0277	N	0.08118	0	0.80722	D	1	B;B;B	0.20780	0.02;0.048;0.048	B;B;B	0.19946	0.027;0.012;0.012	T	0.10800	-1.0614	10	0.87932	D	0	-15.0669	15.9314	0.79663	0.0:0.0:0.0:1.0	.	1151;1174;1175	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	G	1151;1175;1175	ENSP00000443792:D1151G;ENSP00000302501:D1175G;ENSP00000386854:D1175G	ENSP00000302501:D1175G	D	-	2	0	ZEB2	144863609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.217000	0.71921	0.482000	0.46254	GAT		0.493	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		96	1082	0	0	0	1	0	96	1082				
SLC9A7P1	121456	broad.mit.edu	37	12	98849496	98849496	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98849496C>A	ENST00000554295.1	-	0	1427					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		TCCAGCCAATCTTATGCCTTC	0.517																																						ENST00000554295.1																			0																																																			0							g.chr12:98849496C>A			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849496C>A								NR_033801.1						0	1427	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.517	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			34	161	1	0	1.57351e-24	1	1.79979e-24	34	161				
CD33	945	broad.mit.edu	37	19	51728523	51728523	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51728523G>A	ENST00000262262.4	+	2	108	c.87G>A	c.(85-87)gtG>gtA	p.V29V	CD33_ENST00000391796.3_Silent_p.V29V|CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	29	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGAGTCAGTGACGGTACAGG	0.587																																						ENST00000262262.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(85-87)gtG>gtA		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						61.0	60.0	60.0					19																	51728523		2203	4300	6503	SO:0001819	synonymous_variant	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728523G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.87G>A	19.37:g.51728523G>A						CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Silent_p.V29V|CD33_ENST00000436584.2_Intron	p.V29V	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	108	+		all_neural(266;0.0199)	29			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	ENST00000262262.4	37	c.87G>A	CCDS33084.1																																																																																				0.587	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		77	325	0	0	0	1	0	77	325				
NSMAF	8439	broad.mit.edu	37	8	59512420	59512420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59512420C>A	ENST00000038176.3	-	18	1554	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	448	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATAGAATTCTGGAATTAAC	0.398																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1342-1344)Gaa>Taa		neutral sphingomyelinase (N-SMase) activation associated factor							79.0	80.0	80.0					8																	59512420		2203	4300	6503	SO:0001587	stop_gained	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59512420C>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1342G>T	8.37:g.59512420C>A	ENSP00000038176:p.Glu448*					NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*	p.E448*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			18	1554	-		all_lung(136;0.174)|Lung NSC(129;0.2)	448			BEACH.		B4DFB0|E9PCH0|Q8IW26	Nonsense_Mutation	SNP	ENST00000038176.3	37	c.1342G>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373231	0.98781	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	448;479	.	.	E	-	1	0	NSMAF	59674974	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAA		0.398	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		49	277	1	0	5.82388e-19	1	6.47979e-19	49	277				
CCDC112	153733	broad.mit.edu	37	5	114615393	114615393	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114615393A>G	ENST00000512261.1	-	4	479	c.63T>C	c.(61-63)agT>agC	p.S21S	CCDC112_ENST00000506442.1_Silent_p.S21S|CCDC112_ENST00000379611.5_Silent_p.S104S|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Silent_p.S21S			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	21										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTCTAGCATACTATGCTCAA	0.294																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(310-312)agT>agC		coiled-coil domain containing 112							127.0	114.0	118.0					5																	114615393		2202	4298	6500	SO:0001819	synonymous_variant	153733							g.chr5:114615393A>G	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.63T>C	5.37:g.114615393A>G						CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000512261.1_Silent_p.S21S|CCDC112_ENST00000395557.4_Silent_p.S21S|CCDC112_ENST00000506442.1_Silent_p.S21S	p.S104S	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	3	599	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	21					Q6A334	Silent	SNP	ENST00000512261.1	37	c.312T>C	CCDS4117.1																																																																																				0.294	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		29	137	0	0	0	1	0	29	137				
CSPG4	1464	broad.mit.edu	37	15	75969039	75969039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75969039C>T	ENST00000308508.5	-	10	5913	c.5821G>A	c.(5821-5823)Gcc>Acc	p.A1941T	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1941	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCGATGGCGGATGGTAGG	0.662																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(5821-5823)Gcc>Acc		chondroitin sulfate proteoglycan 4							41.0	47.0	45.0					15																	75969039		2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75969039C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5821G>A	15.37:g.75969039C>T	ENSP00000312506:p.Ala1941Thr					CTD-2026K11.1_ENST00000569467.1_RNA	p.A1941T	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			10	5913	-			1941			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.5821G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.434673	0.01108	.	.	ENSG00000173546	ENST00000308508	T	0.15372	2.43	5.04	-5.44	0.02624	.	0.966971	0.08531	N	0.932103	T	0.06371	0.0164	N	0.12961	0.28	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.39800	-0.9596	10	0.18710	T	0.47	.	1.8144	0.03097	0.1936:0.3577:0.0923:0.3563	.	1941	Q6UVK1	CSPG4_HUMAN	T	1941	ENSP00000312506:A1941T	ENSP00000312506:A1941T	A	-	1	0	CSPG4	73756094	0.000000	0.05858	0.008000	0.14137	0.038000	0.13279	-1.125000	0.03257	-0.697000	0.05092	-0.228000	0.12330	GCC		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		76	346	0	0	0	1	0	76	346				
MYO1D	4642	broad.mit.edu	37	17	30980908	30980908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30980908G>A	ENST00000318217.5	-	19	2852	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.R762W	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	850	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGTCCTTCCGTTTCAATTCA	0.413																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2548-2550)Cgg>Tgg		myosin ID							131.0	106.0	115.0					17																	30980908		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30980908G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2548C>T	17.37:g.30980908G>A	ENSP00000324527:p.Arg850Trp					MYO1D_ENST00000394649.4_Missense_Mutation_p.R762W|MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W|RP11-220C2.1_ENST00000582272.1_RNA	p.R850W	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		19	2852	-			850					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2548C>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010813	0.75046	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	D	0.87650	-2.28	5.89	4.9	0.64082	Myosin tail 2 (1);	0.000000	0.36740	U	0.002433	D	0.90089	0.6904	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68765	0.96;0.932	D	0.90562	0.4516	10	0.72032	D	0.01	.	11.8626	0.52476	0.0:0.0:0.6823:0.3176	.	761;850	Q7Z3N6;O94832	.;MYO1D_HUMAN	W	850;42	ENSP00000324527:R850W	ENSP00000324527:R850W	R	-	1	2	MYO1D	28005021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.298000	0.43602	1.454000	0.47793	0.591000	0.81541	CGG		0.413	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			35	128	0	0	0	1	0	35	128				
KDM3B	51780	broad.mit.edu	37	5	137767233	137767233	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137767233T>C	ENST00000314358.5	+	23	5390	c.5190T>C	c.(5188-5190)caT>caC	p.H1730H	KDM3B_ENST00000394866.1_Silent_p.H1386H|KDM3B_ENST00000542866.1_Silent_p.H762H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1730					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATACAAATCATGAGGATAAAC	0.423																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(5188-5190)caT>caC		lysine (K)-specific demethylase 3B							86.0	85.0	85.0					5																	137767233		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137767233T>C	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.5190T>C	5.37:g.137767233T>C						KDM3B_ENST00000542866.1_Silent_p.H762H|KDM3B_ENST00000394866.1_Silent_p.H1386H	p.H1730H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			23	5390	+			1730					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.5190T>C	CCDS34242.1																																																																																				0.423	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		84	285	0	0	0	1	0	84	285				
TXLNB	167838	broad.mit.edu	37	6	139598041	139598041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139598041G>T	ENST00000358430.3	-	3	674	c.442C>A	c.(442-444)Cta>Ata	p.L148I	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	148						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTTGCATTAGCAGGTTGGCT	0.353																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(442-444)Cta>Ata		taxilin beta							90.0	89.0	89.0					6																	139598041		2202	4298	6500	SO:0001583	missense	167838					cytoplasm		g.chr6:139598041G>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.442C>A	6.37:g.139598041G>T	ENSP00000351206:p.Leu148Ile					RP11-445F6.2_ENST00000441249.1_RNA	p.L148I	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	3	674	-			148					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.442C>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469088	0.63625	.	.	ENSG00000164440	ENST00000358430	T	0.39997	1.05	5.06	4.18	0.49190	.	0.067702	0.64402	N	0.000011	T	0.49695	0.1572	M	0.82323	2.585	0.38835	D	0.955921	D	0.63880	0.993	D	0.65573	0.936	T	0.56836	-0.7913	9	.	.	.	-10.2692	6.224	0.20698	0.1497:0.0:0.6965:0.1538	.	148	Q8N3L3	TXLNB_HUMAN	I	148	ENSP00000351206:L148I	.	L	-	1	2	TXLNB	139639734	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	3.799000	0.55529	1.235000	0.43724	0.555000	0.69702	CTA		0.353	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		38	158	1	0	2.24893e-16	1	2.47056e-16	38	158				
PDE6B	5158	broad.mit.edu	37	4	661780	661780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:661780G>A	ENST00000496514.1	+	21	2509	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	PDE6B_ENST00000255622.6_Missense_Mutation_p.V830M|PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	830					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGAGGAGAGGGTGGCAGCCAA	0.552																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2488-2490)Gtg>Atg		phosphodiesterase 6B, cGMP-specific, rod, beta							78.0	85.0	82.0					4																	661780		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:661780G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2488G>A	4.37:g.661780G>A	ENSP00000420295:p.Val830Met					PDE6B_ENST00000496514.1_Missense_Mutation_p.V830M|PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M	p.V830M	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			21	2531	+			830					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.2488G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	g	7.518	0.656106	0.14580	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.66280	-0.05;-0.04;-0.2	4.23	-3.38	0.04883	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	1.289310	0.05632	N	0.581881	T	0.34658	0.0905	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.004;0.009	T	0.23154	-1.0196	10	0.48119	T	0.1	.	5.6111	0.17406	0.3723:0.3678:0.2599:0.0	.	830;830	P35913;P35913-2	PDE6B_HUMAN;.	M	830;830;551	ENSP00000255622:V830M;ENSP00000420295:V830M;ENSP00000406334:V551M	ENSP00000255622:V830M	V	+	1	0	PDE6B	651780	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.160000	0.16462	-0.301000	0.08882	-0.856000	0.03024	GTG		0.552	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		108	513	0	0	0	1	0	108	513				
ZC3H12C	85463	broad.mit.edu	37	11	110007429	110007429	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110007429C>T	ENST00000278590.3	+	2	114	c.63C>T	c.(61-63)agC>agT	p.S21S	ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000528673.1_Silent_p.S22S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	21							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAAAAACAGCAAAGTGGAGT	0.408																																						ENST00000278590.3																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(61-63)agC>agT		zinc finger CCCH-type containing 12C							91.0	91.0	91.0					11																	110007429		1965	4147	6112	SO:0001819	synonymous_variant	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110007429C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.63C>T	11.37:g.110007429C>T						ZC3H12C_ENST00000528673.1_Silent_p.S22S|ZC3H12C_ENST00000453089.2_5'UTR	p.S21S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	2	114	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	21					B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	37	c.63C>T	CCDS44727.1																																																																																				0.408	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		13	310	0	0	0	1	0	13	310				
RFXANK	8625	broad.mit.edu	37	19	19308954	19308954	+	Silent	SNP	C	C	T	rs368281475		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19308954C>T	ENST00000303088.4	+	7	951	c.477C>T	c.(475-477)agC>agT	p.S159S	RFXANK_ENST00000392324.4_Silent_p.S136S|RFXANK_ENST00000456252.3_Silent_p.S137S|RFXANK_ENST00000407360.3_Silent_p.S159S|RFXANK_ENST00000353145.1_Silent_p.S136S	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	159					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			AGCGAGAGAGCGCCCTGTCGC	0.597																																						ENST00000303088.4																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14						c.(475-477)agC>agT		regulatory factor X-associated ankyrin-containing protein		C	,	2,4404	4.2+/-10.8	0,2,2201	81.0	87.0	85.0		477,408	-6.2	0.9	19		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RFXANK	NM_003721.2,NM_134440.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	159/261,136/238	19308954	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8625					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:19308954C>T	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.477C>T	19.37:g.19308954C>T						RFXANK_ENST00000353145.1_Silent_p.S136S|RFXANK_ENST00000456252.3_Silent_p.S137S|RFXANK_ENST00000392324.4_Silent_p.S136S|RFXANK_ENST00000407360.3_Silent_p.S159S	p.S159S	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	Epithelial(12;0.00228)		7	951	+			159					O95839|Q24JQ1|Q6FGA8	Silent	SNP	ENST00000303088.4	37	c.477C>T	CCDS12395.1																																																																																				0.597	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		145	623	0	0	0	1	0	145	623				
ZNF678	339500	broad.mit.edu	37	1	227843057	227843057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227843057G>T	ENST00000343776.5	+	4	1451	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R369I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAGCATAAAAGAATTCATACT	0.388																																						ENST00000343776.4																			1	Substitution - Missense(1)	p.R369I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(1105-1107)aGa>aTa		zinc finger protein 678							34.0	38.0	36.0					1																	227843057		2199	4295	6494	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227843057G>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1106G>T	1.37:g.227843057G>T	ENSP00000344828:p.Arg369Ile					ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000498759.1_Intron	p.R369I			F5GXA7	F5GXA7_HUMAN			4	1451	+		Prostate(94;0.0885)	424					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.1106G>T		.	.	.	.	.	.	.	.	.	.	G	7.832	0.720050	0.15372	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.24908	1.83;1.83	1.5	0.462	0.16695	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26557	0.0649	L	0.50333	1.59	0.45108	D	0.998124	P	0.40180	0.705	P	0.47346	0.544	T	0.03957	-1.0989	9	0.33141	T	0.24	.	6.2127	0.20638	0.1959:0.0:0.8041:0.0	.	369	Q5SXM1	ZN678_HUMAN	I	369;424	ENSP00000344828:R369I;ENSP00000440403:R424I	ENSP00000344828:R369I	R	+	2	0	ZNF678	225909680	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.192000	0.09587	-0.085000	0.12573	-0.283000	0.09986	AGA		0.388	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		65	199	1	0	5.82089e-37	1	6.98174e-37	65	199				
CCDC47	57003	broad.mit.edu	37	17	61838630	61838630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61838630G>A	ENST00000225726.5	-	5	1011	c.629C>T	c.(628-630)tCt>tTt	p.S210F	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CACTCGACCAGAACACCACAG	0.438																																						ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(628-630)tCt>tTt		coiled-coil domain containing 47							301.0	244.0	264.0					17																	61838630		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61838630G>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.629C>T	17.37:g.61838630G>A	ENSP00000225726:p.Ser210Phe					CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	p.S210F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			5	1011	-			210					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.629C>T	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990571	0.54041	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.85013	0.0907	9	0.87932	D	0	-13.4833	18.8345	0.92155	0.0:0.0:1.0:0.0	.	210;210	Q96A33-2;Q96A33	.;CCD47_HUMAN	F	210	.	ENSP00000225726:S210F	S	-	2	0	CCDC47	59192362	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.662000	0.98603	2.760000	0.94817	0.591000	0.81541	TCT		0.438	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		200	794	0	0	0	1	0	200	794				
EEFSEC	60678	broad.mit.edu	37	3	128126977	128126977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128126977C>T	ENST00000254730.6	+	7	1720	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	556					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGGGCTGGCCGTGGGGAGGC	0.647																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(1666-1668)Cgt>Tgt		eukaryotic elongation factor, selenocysteine-tRNA-specific							49.0	45.0	46.0					3																	128126977		2203	4299	6502	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128126977C>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1666C>T	3.37:g.128126977C>T	ENSP00000254730:p.Arg556Cys					EEFSEC_ENST00000483457.1_3'UTR	p.R556C	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			7	1720	+			556					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1666C>T	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081652	0.20309	.	.	ENSG00000132394	ENST00000254730	T	0.51071	0.72	4.8	2.74	0.32292	.	0.390062	0.27460	N	0.019265	T	0.27098	0.0664	N	0.22421	0.69	0.26590	N	0.973224	P	0.51653	0.947	B	0.34452	0.183	T	0.20042	-1.0287	10	0.72032	D	0.01	-9.3772	10.2348	0.43277	0.5808:0.4192:0.0:0.0	.	556	P57772	SELB_HUMAN	C	556	ENSP00000254730:R556C	ENSP00000254730:R556C	R	+	1	0	EEFSEC	129609667	0.981000	0.34729	0.106000	0.21319	0.066000	0.16364	0.969000	0.29370	0.980000	0.38523	0.467000	0.42956	CGT		0.647	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		10	203	0	0	0	1	0	10	203				
TSC22D3	1831	broad.mit.edu	37	X	106957916	106957916	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106957916T>G	ENST00000372397.2	-	3	561	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372383.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	80	Leucine-zipper.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						AGCTCTCGGATCTGCTCCTTC	0.517																																						ENST00000372383.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(436-438)Atc>Ctc		TSC22 domain family, member 3							177.0	156.0	163.0					X																	106957916		2203	4300	6503	SO:0001583	missense	1831						sequence-specific DNA binding transcription factor activity	g.chrX:106957916T>G	Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.238A>C	X.37:g.106957916T>G	ENSP00000361474:p.Ile80Leu					TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L|TSC22D3_ENST00000372397.2_Missense_Mutation_p.I80L|TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L	p.I146L	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN			3	803	-			80					Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	ENST00000372397.2	37	c.436A>C	CCDS14531.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482291	0.84747	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000486554	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.87900	2.915	0.80722	D	1	D;D	0.71674	0.977;0.998	D;D	0.87578	0.949;0.998	D	0.84334	0.0523	9	0.87932	D	0	-12.8729	12.659	0.56803	0.0:0.0:0.0:1.0	.	146;80	Q99576-3;Q99576	.;T22D3_HUMAN	L	23;80;146;146;146;125;56;146;78;23	.	ENSP00000314655:I146L	I	-	1	0	TSC22D3	106844572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.020000	0.88740	1.965000	0.57142	0.486000	0.48141	ATC		0.517	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	NM_198057		169	665	0	0	0	1	0	169	665				
PAPPA2	60676	broad.mit.edu	37	1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1718H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGCCGGCGTCAATGGCAC	0.493																																						ENST00000367662.3																			1	Substitution - Missense(1)	p.R1718H(1)	large_intestine(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5152-5154)cGt>cAt		pappalysin 2							133.0	129.0	131.0					1																	176769219		1935	4140	6075	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176769219G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5153G>A	1.37:g.176769219G>A	ENSP00000356634:p.Arg1718His						p.R1718H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			21	6317	+			1718			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5153G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330450	0.60743	.	.	ENSG00000116183	ENST00000367662	T	0.01705	4.68	6.02	3.07	0.35406	.	0.289113	0.33092	N	0.005285	T	0.04048	0.0113	L	0.51422	1.61	0.09310	N	0.999999	D	0.76494	0.999	P	0.58210	0.835	T	0.36286	-0.9754	10	0.38643	T	0.18	-9.571	5.7732	0.18265	0.1489:0.0:0.6041:0.247	.	1718	Q9BXP8	PAPP2_HUMAN	H	1718	ENSP00000356634:R1718H	ENSP00000356634:R1718H	R	+	2	0	PAPPA2	175035842	0.007000	0.16637	0.443000	0.26883	0.918000	0.54935	1.478000	0.35442	0.897000	0.36392	-0.122000	0.15005	CGT		0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	570	0	0	0	1	0	23	570				
ADD2	119	broad.mit.edu	37	2	70904002	70904002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70904002G>A	ENST00000264436.4	-	13	1963	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	507					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACATCTTGTCGGTTTTGTTCT	0.612																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1519-1521)Cga>Tga		adducin 2 (beta)							66.0	68.0	67.0					2																	70904002		2203	4300	6503	SO:0001587	stop_gained	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70904002G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1519C>T	2.37:g.70904002G>A	ENSP00000264436:p.Arg507*					ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*	p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	1963	-			507					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Nonsense_Mutation	SNP	ENST00000264436.4	37	c.1519C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	43	9.987657	0.99312	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.2811	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;507;201;507;201;507;523	.	ENSP00000264436:R507X	R	-	1	2	ADD2	70757510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	CGA		0.612	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		88	366	0	0	0	1	0	88	366				
ZNF273	10793	broad.mit.edu	37	7	64389058	64389058	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389058T>G	ENST00000476120.1	+	4	1423	c.1352T>G	c.(1351-1353)aTt>aGt	p.I451S	ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATAAGATAATTCATACTGGA	0.348																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1351-1353)aTt>aGt		zinc finger protein 273							32.0	35.0	34.0					7																	64389058		2201	4298	6499	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64389058T>G	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1352T>G	7.37:g.64389058T>G	ENSP00000418719:p.Ile451Ser					ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	p.I451S	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1423	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	451					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.1352T>G	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883389	0.51908	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.00659	5.94;5.94	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01029	0.0034	N	0.11106	0.095	0.28238	N	0.925795	P	0.35226	0.491	P	0.50934	0.654	T	0.51896	-0.8647	9	0.72032	D	0.01	.	5.7517	0.18150	0.0:0.0:0.0:1.0	.	451	Q14593	ZN273_HUMAN	S	451;386	ENSP00000418719:I451S;ENSP00000324518:I386S	ENSP00000324518:I386S	I	+	2	0	ZNF273	64026493	0.000000	0.05858	0.826000	0.32828	0.824000	0.46624	-0.280000	0.08468	0.175000	0.19841	0.172000	0.16884	ATT		0.348	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			46	178	0	0	0	1	0	46	178				
GPR179	440435	broad.mit.edu	37	17	36484336	36484336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36484336G>T	ENST00000342292.4	-	11	5136	c.5116C>A	c.(5116-5118)Ccc>Acc	p.P1706T	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1706					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTCCCAGGGACAGATTTCT	0.532																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5116-5118)Ccc>Acc		G protein-coupled receptor 179							78.0	80.0	79.0					17																	36484336		1938	4145	6083	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484336G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5116C>A	17.37:g.36484336G>T	ENSP00000345060:p.Pro1706Thr					GPR179_ENST00000584976.1_5'UTR	p.P1706T	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5136	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1706						Missense_Mutation	SNP	ENST00000342292.4	37	c.5116C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352287	0.61293	.	.	ENSG00000188888	ENST00000342292	T	0.55930	0.49	5.13	1.97	0.26223	.	0.186936	0.26556	N	0.023703	T	0.60483	0.2272	M	0.72118	2.19	0.31653	N	0.646498	D	0.76494	0.999	P	0.62560	0.904	T	0.63699	-0.6578	10	0.66056	D	0.02	-9.0742	3.3315	0.07085	0.0939:0.1703:0.5596:0.1761	.	1706	Q6PRD1	GP179_HUMAN	T	1706	ENSP00000345060:P1706T	ENSP00000345060:P1706T	P	-	1	0	GPR179	33737862	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	2.563000	0.45922	1.386000	0.46466	0.655000	0.94253	CCC		0.532	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			114	478	1	0	6.25226e-48	1	7.70577e-48	114	478				
CPN2	1370	broad.mit.edu	37	3	194061981	194061981	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194061981C>A	ENST00000323830.3	-	2	1540	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	484					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTCGGGGTTGCTGTAGGTGCA	0.662																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1450-1452)aGc>aTc		carboxypeptidase N, polypeptide 2							47.0	49.0	48.0					3																	194061981		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194061981C>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1451G>T	3.37:g.194061981C>A	ENSP00000319464:p.Ser484Ile					CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	p.S484I	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1540	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		484					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1451G>T	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316294	0.60524	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.56941	0.43;0.43	5.41	5.41	0.78517	.	0.171304	0.28247	N	0.016057	T	0.41213	0.1149	L	0.27053	0.805	0.30440	N	0.77626	P	0.49961	0.93	P	0.44732	0.459	T	0.50634	-0.8805	10	0.62326	D	0.03	.	8.2362	0.31627	0.0:0.758:0.1589:0.0831	.	484	P22792	CPN2_HUMAN	I	484	ENSP00000319464:S484I;ENSP00000402232:S484I	ENSP00000319464:S484I	S	-	2	0	CPN2	195543676	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.647000	0.24812	2.702000	0.92279	0.655000	0.94253	AGC		0.662	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		71	297	1	0	4.96364e-44	1	6.06858e-44	71	297				
SCAF8	22828	broad.mit.edu	37	6	155109046	155109046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155109046C>T	ENST00000367178.3	+	4	787	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SCAF8_ENST00000417268.1_Nonsense_Mutation_p.R71*|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.R137*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	71	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCATTGTGCGACAATCCCG	0.368																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(211-213)Cga>Tga		SR-related CTD-associated factor 8							152.0	143.0	146.0					6																	155109046		2203	4300	6503	SO:0001587	stop_gained	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155109046C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.211C>T	6.37:g.155109046C>T	ENSP00000356146:p.Arg71*					SCAF8_ENST00000367186.4_Nonsense_Mutation_p.R137*|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.R71*	p.R71*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			4	787	+			71			CID.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Nonsense_Mutation	SNP	ENST00000367178.3	37	c.211C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843274	0.91197	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.18	4.3	0.51218	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9719	0.64245	0.29:0.71:0.0:0.0	.	.	.	.	X	71;71;137	.	ENSP00000356146:R71X	R	+	1	2	SCAF8	155150738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.393000	0.52544	1.288000	0.44600	0.591000	0.81541	CGA		0.368	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		15	479	0	0	0	1	0	15	479				
NCAPD2	9918	broad.mit.edu	37	12	6619865	6619865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6619865C>T	ENST00000315579.5	+	5	1132	c.333C>T	c.(331-333)aaC>aaT	p.N111N	NCAPD2_ENST00000545962.1_Silent_p.N66N|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	111	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGATAGAAACGCCCATCTAA	0.498																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(331-333)aaC>aaT		non-SMC condensin I complex, subunit D2							127.0	122.0	124.0					12																	6619865		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6619865C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.333C>T	12.37:g.6619865C>T						NCAPD2_ENST00000545962.1_Silent_p.N66N	p.N111N	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			5	1132	+			111			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.333C>T	CCDS8548.1																																																																																				0.498	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		74	401	0	0	0	1	0	74	401				
NACA2	342538	broad.mit.edu	37	17	59668386	59668386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59668386C>T	ENST00000521764.1	-	1	177	c.156G>A	c.(154-156)tgG>tgA	p.W52*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	52					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTGCCACCAGCCAGGCTTTTT	0.512																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(154-156)tgG>tgA		nascent polypeptide-associated complex alpha subunit 2							119.0	110.0	113.0					17																	59668386		2203	4300	6503	SO:0001587	stop_gained	342538				protein transport	cytoplasm|nucleus		g.chr17:59668386C>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.156G>A	17.37:g.59668386C>T	ENSP00000427802:p.Trp52*						p.W52*	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	177	-	all_epithelial(1;3.12e-14)		52					Q2VIR9	Nonsense_Mutation	SNP	ENST00000521764.1	37	c.156G>A	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043673	0.36085	.	.	ENSG00000253506	ENST00000521764	.	.	.	0.753	0.753	0.18404	.	0.213702	0.30093	U	0.010435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	.	W	-	3	0	NACA2	57023168	1.000000	0.71417	0.296000	0.24974	0.035000	0.12851	4.906000	0.63293	0.702000	0.31825	0.411000	0.27672	TGG		0.512	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		150	638	0	0	0	1	0	150	638				
CD300LF	146722	broad.mit.edu	37	17	72700910	72700910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72700910C>T	ENST00000326165.6	-	2	200	c.89G>A	c.(88-90)gGc>gAc	p.G30D	CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D|CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D|CD300LF_ENST00000469092.1_Missense_Mutation_p.G33D	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	30	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGCTCCAAGCCATTCACTGT	0.542																																						ENST00000469092.1																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(97-99)gGc>gAc		CD300 molecule-like family member f							73.0	67.0	69.0					17																	72700910		2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72700910C>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.89G>A	17.37:g.72700910C>T	ENSP00000327075:p.Gly30Asp					CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000326165.6_Missense_Mutation_p.G30D|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D|CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D	p.G33D			Q8TDQ1	CLM1_HUMAN			3	374	-			30			Ig-like V-type.		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.98G>A	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168291	0.57584	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.35	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261665	0.26700	N	0.022958	D	0.84474	0.5480	H	0.95780	3.72	0.09310	N	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	0.87578	0.996;0.997;0.998;0.997;0.998;0.997	T	0.75286	-0.3371	10	0.87932	D	0	.	8.3165	0.32104	0.154:0.7612:0.0:0.0848	.	30;33;33;30;30;33	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	D	30;33;33;30	ENSP00000301573:G30D;ENSP00000355294:G33D;ENSP00000343751:G33D;ENSP00000327075:G30D	ENSP00000301573:G30D	G	-	2	0	CD300LF	70212505	0.010000	0.17322	0.014000	0.15608	0.001000	0.01503	1.129000	0.31381	1.385000	0.46445	0.561000	0.74099	GGC		0.542	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		21	477	0	0	0	1	0	21	477				
HIST1H1C	3006	broad.mit.edu	37	6	26056411	26056411	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26056411A>G	ENST00000343677.2	-	1	288	c.246T>C	c.(244-246)ctT>ctC	p.L82L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	82	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGAGACCAAGTTTGATAC	0.542																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(244-246)ctT>ctC		histone cluster 1, H1c							112.0	117.0	115.0					6																	26056411		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056411A>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.246T>C	6.37:g.26056411A>G							p.L82L	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	288	-			82			H15.		A8K4I2	Silent	SNP	ENST00000343677.2	37	c.246T>C	CCDS4577.1																																																																																				0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		172	710	0	0	0	1	0	172	710				
OBSCN	84033	broad.mit.edu	37	1	228547333	228547333	+	Intron	SNP	G	G	A	rs372929522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228547333G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Missense_Mutation_p.R6247H|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3366H|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGAGCCCACGTGGCCAACGA	0.672																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18739-18741)cGt>cAt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							18.0	23.0	21.0					1																	228547333		2108	4228	6336	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547333G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2944G>A	1.37:g.228547333G>A						OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3366H|OBSCN_ENST00000366707.4_Intron	p.R6247H			Q5VST9	OBSCN_HUMAN			81	18814	+		Prostate(94;0.0405)	6248					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18740G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101248	0.76983	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.59502	0.26;0.43	4.56	3.65	0.41850	.	.	.	.	.	T	0.55970	0.1954	M	0.73598	2.24	0.30079	N	0.80936	B	0.30793	0.295	B	0.22880	0.042	T	0.58103	-0.7695	9	0.46703	T	0.11	.	12.9453	0.58369	0.0789:0.0:0.9211:0.0	.	6247	Q5VST9-3	.	H	6247;3366	ENSP00000284548:R6247H;ENSP00000355670:R3366H	ENSP00000284548:R6247H	R	+	2	0	OBSCN	226613956	1.000000	0.71417	0.303000	0.25071	0.002000	0.02628	5.564000	0.67359	1.155000	0.42497	-0.264000	0.10439	CGT		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	52	0	0	0	1	0	7	52				
ATG2B	55102	broad.mit.edu	37	14	96758421	96758421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96758421G>A	ENST00000359933.4	-	37	6334	c.5441C>T	c.(5440-5442)aCg>aTg	p.T1814M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1814					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AACTTCTGACGTGAATCTAAA	0.308																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(5440-5442)aCg>aTg		autophagy related 2B							115.0	117.0	117.0					14																	96758421		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96758421G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5441C>T	14.37:g.96758421G>A	ENSP00000353010:p.Thr1814Met					ATG2B_ENST00000261834.5_5'UTR	p.T1814M	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	37	6334	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1814					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.5441C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944723	0.73672	.	.	ENSG00000066739	ENST00000359933	T	0.10960	2.82	5.14	3.31	0.37934	.	0.050873	0.85682	D	0.000000	T	0.25082	0.0609	L	0.56769	1.78	0.53005	D	0.999967	D	0.89917	1.0	D	0.85130	0.997	T	0.00579	-1.1661	10	0.32370	T	0.25	.	10.3739	0.44071	0.1366:0.0:0.8634:0.0	.	1814	Q96BY7	ATG2B_HUMAN	M	1814	ENSP00000353010:T1814M	ENSP00000261834:T458M	T	-	2	0	ATG2B	95828174	1.000000	0.71417	0.859000	0.33776	0.979000	0.70002	4.832000	0.62759	0.652000	0.30806	0.655000	0.94253	ACG		0.308	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		62	316	0	0	0	1	0	62	316				
RDH8	50700	broad.mit.edu	37	19	10132384	10132384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10132384C>T	ENST00000171214.1	+	6	1144	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	RDH8_ENST00000591589.1_Silent_p.L319L	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	299					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTTCAATGTCTGTCCTGCGG	0.587																																						ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(955-957)Ctg>Ttg		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						94.0	91.0	92.0					19																	10132384		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10132384C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.895C>T	19.37:g.10132384C>T						RDH8_ENST00000171214.1_Silent_p.L299L	p.L319L			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		6	1144	+			299					Q9H838	Silent	SNP	ENST00000171214.1	37	c.955C>T																																																																																					0.587	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				67	260	0	0	0	1	0	67	260				
TRIM16L	147166	broad.mit.edu	37	17	18638416	18638416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638416C>T	ENST00000449552.2	+	7	2174	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRIM16L_ENST00000572555.1_Silent_p.C230C|TRIM16L_ENST00000395672.2_Silent_p.C230C|TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000395671.4_Silent_p.C230C|TRIM16L_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000414850.2_3'UTR			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	230	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCCTGACCTGCAAAGGCATCG	0.572																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(688-690)tgC>tgT		tripartite motif containing 16-like							72.0	67.0	69.0					17																	18638416		2203	4300	6503	SO:0001819	synonymous_variant	147166					cytoplasm		g.chr17:18638416C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.690C>T	17.37:g.18638416C>T						TRIM16L_ENST00000395672.2_Silent_p.C230C|TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Silent_p.C230C|TRIM16L_ENST00000395671.4_Silent_p.C230C	p.C230C			Q309B1	TR16L_HUMAN			7	2174	+			230			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	37	c.690C>T	CCDS32588.1																																																																																				0.572	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		10	408	0	0	0	1	0	10	408				
ADAMTS4	9507	broad.mit.edu	37	1	161168079	161168079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161168079G>A	ENST00000367996.5	-	1	767	c.339C>T	c.(337-339)ggC>ggT	p.G113G	ADAMTS4_ENST00000367995.3_Silent_p.G113G|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	113					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CAGGCGCCTGGCCCAGGTACT	0.642																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(337-339)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 4							41.0	41.0	41.0					1																	161168079		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161168079G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.339C>T	1.37:g.161168079G>A						ADAMTS4_ENST00000367995.3_Silent_p.G113G	p.G113G	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	767	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		113					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.339C>T	CCDS1223.1																																																																																				0.642	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		35	282	0	0	0	1	0	35	282				
ZNF652	22834	broad.mit.edu	37	17	47394317	47394317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394317G>A	ENST00000362063.2	-	2	1089	c.771C>T	c.(769-771)cgC>cgT	p.R257R	ZNF652_ENST00000430262.2_Silent_p.R257R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCAGGTACCAGCGAGTGTTAA	0.498																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(769-771)cgC>cgT		zinc finger protein 652							175.0	147.0	157.0					17																	47394317		2203	4300	6503	SO:0001819	synonymous_variant	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394317G>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.771C>T	17.37:g.47394317G>A						ZNF652_ENST00000430262.2_Silent_p.R257R	p.R257R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1089	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		257					A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	37	c.771C>T	CCDS32677.1																																																																																				0.498	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		101	390	0	0	0	1	0	101	390				
HNRNPK	3190	broad.mit.edu	37	9	86586806	86586806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86586806G>T	ENST00000376264.2	-	11	1202	c.944C>A	c.(943-945)cCt>cAt	p.P315H	HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|HNRNPK_ENST00000376263.3_Missense_Mutation_p.P315H|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	315	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Poly-Pro.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGG	0.527																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(943-945)cCt>cAt		heterogeneous nuclear ribonucleoprotein K							41.0	50.0	47.0					9																	86586806		2196	4290	6486	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86586806G>T		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.944C>A	9.37:g.86586806G>T	ENSP00000365440:p.Pro315His					HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P315H	p.P315H	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			11	1167	-			315			2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.944C>A	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492840	0.44352	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.50813	0.73;0.77;0.73;0.77;0.77	5.31	5.31	0.75309	.	0.301034	0.36555	N	0.002539	T	0.56572	0.1994	L	0.34521	1.04	0.47698	D	0.999494	D;D;D;D;P;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.947;1.0;1.0;0.911	D;D;D;D;P;D;D;B	0.91635	0.997;0.997;0.998;0.999;0.584;0.999;0.999;0.379	T	0.44682	-0.9312	10	0.13470	T	0.59	-4.0566	17.5267	0.87802	0.0:0.0:1.0:0.0	.	291;280;315;310;315;291;315;315	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	315;315;315;315;315;280;315;310;291;246	ENSP00000365458:P315H;ENSP00000365440:P315H;ENSP00000365439:P315H;ENSP00000317788:P315H;ENSP00000353552:P315H	ENSP00000317788:P315H	P	-	2	0	HNRNPK	85776626	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.068000	0.71201	2.636000	0.89361	0.655000	0.94253	CCT		0.527	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			93	413	1	0	4.21773e-46	1	5.1785e-46	93	413				
NFKB2	4791	broad.mit.edu	37	10	104156690	104156690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104156690C>T	ENST00000369966.3	+	6	523	c.273C>T	c.(271-273)atC>atT	p.I91I	NFKB2_ENST00000189444.6_Silent_p.I91I|NFKB2_ENST00000428099.1_Silent_p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	91	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CAGCCAAGATCGAGGTGGACC	0.597			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(271-273)atC>atT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							71.0	75.0	74.0					10																	104156690		2081	4216	6297	SO:0001819	synonymous_variant	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104156690C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.273C>T	10.37:g.104156690C>T						NFKB2_ENST00000428099.1_Silent_p.I91I|NFKB2_ENST00000189444.6_Silent_p.I91I	p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	6	523	+		Colorectal(252;0.00957)	91			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	c.273C>T	CCDS41564.1																																																																																				0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			41	171	0	0	0	1	0	41	171				
ULK1	8408	broad.mit.edu	37	12	132405897	132405897	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132405897C>A	ENST00000321867.4	+	28	3495	c.3144C>A	c.(3142-3144)atC>atA	p.I1048I	ULK1_ENST00000540647.1_Silent_p.I293I	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1048					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGACTGGCATCTGTGCCTGAC	0.677																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(3142-3144)atC>atA		unc-51 like autophagy activating kinase 1							119.0	116.0	117.0					12																	132405897		2203	4300	6503	SO:0001819	synonymous_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132405897C>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3144C>A	12.37:g.132405897C>A						ULK1_ENST00000540647.1_Silent_p.I293I	p.I1048I	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	28	3495	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		1048					Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.3144C>A	CCDS9274.1																																																																																				0.677	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			217	818	1	0	3.56531e-90	1	4.57673e-90	217	818				
PPEF2	5470	broad.mit.edu	37	4	76811174	76811174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76811174C>T	ENST00000286719.7	-	5	709	c.353G>A	c.(352-354)cGc>cAc	p.R118H	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	118				R -> S (in Ref. 1; AAB82796/AAB82797). {ECO:0000305}.	detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAGGAGAGGCGTGGCCCCGT	0.532																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(352-354)cGc>cAc		protein phosphatase, EF-hand calcium binding domain 2							245.0	214.0	225.0					4																	76811174		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811174C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.353G>A	4.37:g.76811174C>T	ENSP00000286719:p.Arg118His						p.R118H	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	709	-			118	R -> S (in Ref. 1; AAB82796/AAB82797).				O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.353G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622910	0.14193	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.50001	0.76	4.8	-0.925	0.10458	Serine/threonine phosphatase, PPP5 (1);	0.315459	0.35436	N	0.003216	T	0.28333	0.0700	N	0.21097	0.63	0.34531	D	0.709223	B;B	0.16802	0.001;0.019	B;B	0.14023	0.002;0.01	T	0.14448	-1.0472	10	0.33141	T	0.24	-1.5701	9.52	0.39129	0.0:0.4153:0.0:0.5847	.	118;118	O14830-2;O14830	.;PPE2_HUMAN	H	118	ENSP00000286719:R118H	ENSP00000286719:R118H	R	-	2	0	PPEF2	77030198	0.000000	0.05858	0.993000	0.49108	0.365000	0.29674	-1.516000	0.02250	-0.137000	0.11455	-0.657000	0.03884	CGC		0.532	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		110	622	0	0	0	1	0	110	622				
HDLBP	3069	broad.mit.edu	37	2	242192398	242192398	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242192398T>C	ENST00000391975.1	-	11	1573	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R|HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R|HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000476807.1_5'Flank	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	449	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCAATGAGGTGCCTGTGGAA	0.572																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1345-1347)cAc>cGc		high density lipoprotein binding protein							196.0	156.0	170.0					2																	242192398		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242192398T>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1346A>G	2.37:g.242192398T>C	ENSP00000375836:p.His449Arg					HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R|HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R	p.H449R	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	11	1573	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	449			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1346A>G	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.0|28.0	4.885819|4.885819	0.91814|0.91814	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141	T;T;T;T|.	0.25579|.	1.79;1.79;1.79;1.79|.	5.49|5.49	5.49|5.49	0.81192|0.81192	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59211|0.59211	0.2177|0.2177	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.81914|.	0.995;0.988|.	T|T	0.56177|0.56177	-0.8022|-0.8022	10|5	0.72032|.	D|.	0.01|.	-31.8082|-31.8082	14.4589|14.4589	0.67435|0.67435	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	416;449|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|A	449;449;449;416|327	ENSP00000375836:H449R;ENSP00000375837:H449R;ENSP00000312042:H449R;ENSP00000399139:H416R|.	ENSP00000312042:H449R|.	H|T	-|-	2|1	0|0	HDLBP|HDLBP	241841071|241841071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.247000|7.247000	0.78257|0.78257	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.572	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		128	350	0	0	0	1	0	128	350				
MROH2B	133558	broad.mit.edu	37	5	41057440	41057440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41057440G>T	ENST00000399564.4	-	8	1229	c.779C>A	c.(778-780)gCa>gAa	p.A260E	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	260																	AAGAACTGCTGCAGTCAGTAT	0.443																																						ENST00000399564.4																			0											c.(778-780)gCa>gAa		maestro heat-like repeat family member 2B							50.0	47.0	48.0					5																	41057440		1864	4117	5981	SO:0001583	missense	133558							g.chr5:41057440G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.779C>A	5.37:g.41057440G>T	ENSP00000382476:p.Ala260Glu					MROH2B_ENST00000506092.2_Intron	p.A260E	NM_173489.4	NP_775760.3					8	1229	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.779C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725070	0.68959	.	.	ENSG00000171495	ENST00000399564	T	0.65916	-0.18	5.21	5.21	0.72293	Armadillo-type fold (1);	0.000000	0.56097	D	0.000021	T	0.76786	0.4036	M	0.66939	2.045	0.26523	N	0.974396	D	0.89917	1.0	D	0.87578	0.998	T	0.69978	-0.4998	10	0.72032	D	0.01	.	14.4504	0.67382	0.0:0.0:1.0:0.0	.	260	Q7Z745	HTRB2_HUMAN	E	260	ENSP00000382476:A260E	ENSP00000382476:A260E	A	-	2	0	HEATR7B2	41093197	0.688000	0.27680	0.221000	0.23827	0.054000	0.15201	2.658000	0.46733	2.873000	0.98535	0.561000	0.74099	GCA		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		6	30	1	0	0.00116845	1	0.00118049	6	30				
ASNS	440	broad.mit.edu	37	7	97498323	97498323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498323C>T	ENST00000394309.3	-	3	617	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000175506.4_Missense_Mutation_p.R49Q|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	49	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.|Glutamine binding. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TACCGCCAACCGGTGAAATCC	0.448																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(145-147)cGg>cAg		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						75.0	64.0	67.0					7																	97498323		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97498323C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.146G>A	7.37:g.97498323C>T	ENSP00000377846:p.Arg49Gln					ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000394309.3_Missense_Mutation_p.R49Q|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q|ASNS_ENST00000437628.1_Intron	p.R49Q	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			4	674	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		49			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.146G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145453	0.77888	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.69806	-0.2;-0.2;-0.2;-0.43;-0.43;-0.36	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.89427	0.6712	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93390	0.6751	10	0.87932	D	0	-13.7033	13.4946	0.61416	0.0:1.0:0.0:0.0	.	49	P08243	ASNS_HUMAN	Q	49;49;49;28;28;49;49;49;28	ENSP00000175506:R49Q;ENSP00000377846:R49Q;ENSP00000377845:R49Q;ENSP00000414901:R28Q;ENSP00000406994:R28Q;ENSP00000400422:R49Q	ENSP00000175506:R49Q	R	-	2	0	ASNS	97336259	1.000000	0.71417	0.984000	0.44739	0.425000	0.31504	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	CGG		0.448	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		72	262	0	0	0	1	0	72	262				
COL26A1	136227	broad.mit.edu	37	7	101200826	101200826	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101200826G>T	ENST00000397927.3	+	0	1554				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											CACTGCTCCAGGACACCCTAT	0.647																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1							21.0	24.0	23.0					7																	101200826		1966	4147	6113			136227							g.chr7:101200826G>T	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101200826G>T						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	1531	+								Q32M90	RNA	SNP	ENST00000397927.3	37																																																																																						0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		6	147	1	0	2.7689e-08	1	2.89045e-08	6	147				
ZNF768	79724	broad.mit.edu	37	16	30536376	30536376	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536376C>T	ENST00000380412.5	-	2	1260	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	362					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCGCTGGTGTCGCAGGAGGTA	0.632																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1084-1086)cGa>cAa		zinc finger protein 768							43.0	44.0	44.0					16																	30536376		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536376C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1085G>A	16.37:g.30536376C>T	ENSP00000369777:p.Arg362Gln					ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	p.R362Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	1260	-			362					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.1085G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205440	0.39003	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07216	3.21	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002285	T	0.03564	0.0102	L	0.28458	0.855	0.28164	N	0.928832	P	0.40360	0.714	B	0.29176	0.099	T	0.23190	-1.0195	10	0.02654	T	1	-7.1639	5.7035	0.17895	0.1955:0.7065:0.0:0.098	.	362	Q9H5H4	ZN768_HUMAN	Q	362;275	ENSP00000369777:R362Q	ENSP00000369777:R362Q	R	-	2	0	ZNF768	30443877	0.000000	0.05858	1.000000	0.80357	0.908000	0.53690	-1.355000	0.02612	2.384000	0.81235	0.205000	0.17691	CGA		0.632	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		9	252	0	0	0	1	0	9	252				
ANO3	63982	broad.mit.edu	37	11	26574818	26574818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26574818G>A	ENST00000256737.3	+	13	2164	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ANO3_ENST00000531568.1_Missense_Mutation_p.E292K|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	438					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TAAAGCCACTGAAGTCTTTAT	0.423																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1312-1314)Gaa>Aaa		anoctamin 3							168.0	173.0	171.0					11																	26574818		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26574818G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1312G>A	11.37:g.26574818G>A	ENSP00000256737:p.Glu438Lys					ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000531568.1_Missense_Mutation_p.E292K	p.E438K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			13	2164	+			438					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1312G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859210	0.51376	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.41	5.59	4.62	0.57501	.	0.112278	0.64402	D	0.000011	T	0.64907	0.2641	N	0.21508	0.67	0.44030	D	0.99675	B;B	0.32467	0.372;0.372	B;B	0.42959	0.209;0.403	T	0.62201	-0.6904	10	0.29301	T	0.29	.	15.9344	0.79691	0.0:0.1352:0.8648:0.0	.	340;438	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	422;422;438;340;292	ENSP00000440737:E422K;ENSP00000432576:E422K;ENSP00000256737:E438K;ENSP00000432394:E292K	ENSP00000256737:E438K	E	+	1	0	ANO3	26531394	1.000000	0.71417	0.974000	0.42286	0.980000	0.70556	4.229000	0.58625	2.633000	0.89246	0.637000	0.83480	GAA		0.423	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		226	1015	0	0	0	1	0	226	1015				
ST3GAL4	6484	broad.mit.edu	37	11	126278040	126278040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126278040C>T	ENST00000526727.1	+	6	762	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	130					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCACCGGCTGCGGAACAGCTC	0.577																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(388-390)Cgg>Tgg		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							145.0	143.0	143.0					11																	126278040		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126278040C>T	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.388C>T	11.37:g.126278040C>T	ENSP00000436047:p.Arg130Trp					ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W	p.R130W			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	6	762	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	130					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.388C>T	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812726	0.50527	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.19	3.17	0.36434	.	.	.	.	.	T	0.50171	0.1600	M	0.64404	1.975	0.28631	N	0.90763	D;D	0.64830	0.994;0.994	D;D	0.65233	0.933;0.933	T	0.46803	-0.9165	9	0.72032	D	0.01	.	13.6837	0.62502	0.3868:0.6132:0.0:0.0	.	126;130	Q6IBE6;Q11206	.;SIA4C_HUMAN	W	126;130;136;126;130;130;130;130;119;129;125	ENSP00000227495:R126W;ENSP00000394354:R130W;ENSP00000348451:R136W;ENSP00000433989:R126W;ENSP00000433318:R130W;ENSP00000432424:R130W;ENSP00000376437:R130W;ENSP00000436047:R130W;ENSP00000399444:R119W;ENSP00000434349:R129W;ENSP00000434668:R125W	ENSP00000227495:R126W	R	+	1	2	ST3GAL4	125783250	0.964000	0.33143	0.510000	0.27712	0.212000	0.24457	2.227000	0.42972	1.287000	0.44583	0.561000	0.74099	CGG		0.577	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		57	287	0	0	0	1	0	57	287				
RAD54L	8438	broad.mit.edu	37	1	46743903	46743903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46743903C>T	ENST00000371975.4	+	18	2867	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	LRRC41_ENST00000472710.1_5'Flank|RAD54L_ENST00000442598.1_Silent_p.I731I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	731					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCACTGCCATCACCTTCGTCT	0.587								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(2191-2193)atC>atT	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							35.0	34.0	35.0					1																	46743903		2203	4300	6503	SO:0001819	synonymous_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46743903C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2193C>T	1.37:g.46743903C>T						RAD54L_ENST00000442598.1_Silent_p.I731I|RAD54L_ENST00000488942.1_3'UTR	p.I731I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	18	2867	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	731					Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	c.2193C>T	CCDS532.1																																																																																				0.587	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		28	106	0	0	0	1	0	28	106				
PHLDB2	90102	broad.mit.edu	37	3	111603559	111603559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603559G>A	ENST00000431670.2	+	2	1046	c.635G>A	c.(634-636)aGc>aAc	p.S212N	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	212						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAAAATGAGCATTCAGGAC	0.512																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(634-636)aGc>aAc		pleckstrin homology-like domain, family B, member 2							61.0	62.0	62.0					3																	111603559		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603559G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.635G>A	3.37:g.111603559G>A	ENSP00000405405:p.Ser212Asn					PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N	p.S212N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	1046	+			212					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.635G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.721857	0.03182	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31510	1.52;1.53;1.53;1.49;1.53;1.53	5.61	-1.59	0.08453	.	0.612468	0.19263	N	0.118609	T	0.04770	0.0129	N	0.00436	-1.5	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.001	T	0.34104	-0.9842	10	0.06099	T	0.92	.	1.8583	0.03184	0.2687:0.158:0.417:0.1562	.	212;212;212;212;239	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	239;239;212;212;212;212;212;212;212	ENSP00000377500:S239N;ENSP00000405405:S212N;ENSP00000405292:S212N;ENSP00000418296:S212N;ENSP00000377502:S212N;ENSP00000418319:S212N	ENSP00000352764:S239N	S	+	2	0	PHLDB2	113086249	0.853000	0.29707	0.375000	0.26029	0.952000	0.60782	1.298000	0.33412	-0.076000	0.12775	-0.345000	0.07892	AGC		0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		80	283	0	0	0	1	0	80	283				
RBM48	84060	broad.mit.edu	37	7	92164195	92164195	+	Nonsense_Mutation	SNP	G	G	T	rs188801072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92164195G>T	ENST00000265732.5	+	4	969	c.928G>T	c.(928-930)Gga>Tga	p.G310*	RBM48_ENST00000481551.1_Nonsense_Mutation_p.G310*	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	310						nucleus (GO:0005634)	RNA binding (GO:0003723)										GATTATGATTGGACCTCTGTT	0.383																																						ENST00000481551.1																			0											c.(928-930)Gga>Tga		RNA binding motif protein 48							57.0	57.0	57.0					7																	92164195		1869	4108	5977	SO:0001587	stop_gained	84060						nucleotide binding	g.chr7:92164195G>T	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.928G>T	7.37:g.92164195G>T	ENSP00000265732:p.Gly310*					RBM48_ENST00000265732.5_Nonsense_Mutation_p.G310*	p.G310*			Q5RL73	CG064_HUMAN			4	969	+			310					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Nonsense_Mutation	SNP	ENST00000265732.5	37	c.928G>T	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797389	0.96952	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.3793	19.0892	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000265732:G310X	G	+	1	0	C7orf64	92002131	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.956000	0.93066	2.746000	0.94184	0.591000	0.81541	GGA		0.383	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		66	232	1	0	1.49723e-40	1	1.81615e-40	66	232				
HEPH	9843	broad.mit.edu	37	X	65486305	65486305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65486305G>A	ENST00000343002.2	+	20	3932	c.3268G>A	c.(3268-3270)Gaa>Aaa	p.E1090K	HEPH_ENST00000519389.1_Missense_Mutation_p.E1144K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K|HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000336279.5_Missense_Mutation_p.E823K			Q9BQS7	HEPH_HUMAN	hephaestin	1090					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGACATTGAAGAAGGCAATGT	0.463																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3430-3432)Gaa>Aaa		hephaestin							194.0	138.0	157.0					X																	65486305		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486305G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3268G>A	X.37:g.65486305G>A	ENSP00000343939:p.Glu1090Lys					HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000343002.2_Missense_Mutation_p.E1090K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K|HEPH_ENST00000336279.5_Missense_Mutation_p.E823K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K	p.E1144K			Q9BQS7	HEPH_HUMAN			21	3609	+			1090					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3430G>A		.	.	.	.	.	.	.	.	.	.	G	8.948	0.967504	0.18659	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99277	-5.67;-5.66;-5.66;-5.64;-5.66;-5.66	5.01	5.01	0.66863	.	0.714431	0.12167	N	0.493373	D	0.96682	0.8917	L	0.27053	0.805	0.09310	N	1	B;P;B	0.48998	0.01;0.918;0.094	B;B;B	0.40009	0.004;0.316;0.016	D	0.91369	0.5118	10	0.06099	T	0.92	.	13.9687	0.64225	0.0:0.0:1.0:0.0	.	1144;901;1090	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	K	1144;1093;823;1092;901;1090	ENSP00000430620:E1144K;ENSP00000363859:E1093K;ENSP00000337418:E823K;ENSP00000411687:E1092K;ENSP00000413211:E901K;ENSP00000343939:E1090K	ENSP00000337418:E823K	E	+	1	0	HEPH	65403030	0.923000	0.31300	0.023000	0.16930	0.011000	0.07611	1.912000	0.39946	2.315000	0.78130	0.600000	0.82982	GAA		0.463	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		49	178	0	0	0	1	0	49	178				
ZC3H18	124245	broad.mit.edu	37	16	88643732	88643732	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643732C>T	ENST00000301011.5	+	2	401	c.201C>T	c.(199-201)tcC>tcT	p.S67S	ZC3H18_ENST00000452588.2_Silent_p.S67S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	67						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATAATCACTCCGACGAGGAGG	0.632																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(199-201)tcC>tcT		zinc finger CCCH-type containing 18							33.0	35.0	35.0					16																	88643732		2197	4300	6497	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643732C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.201C>T	16.37:g.88643732C>T						ZC3H18_ENST00000452588.2_Silent_p.S67S	p.S67S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	401	+			67					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.201C>T	CCDS10967.1																																																																																				0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		51	157	0	0	0	1	0	51	157				
KIF21B	23046	broad.mit.edu	37	1	200969089	200969089	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200969089G>A	ENST00000422435.2	-	12	2005	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	KIF21B_ENST00000461742.2_Silent_p.P563P|KIF21B_ENST00000332129.2_Silent_p.P563P|KIF21B_ENST00000360529.5_Silent_p.P563P	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	563					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTCCTTCTCGGGGCTGCTCA	0.622																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1687-1689)ccC>ccT		kinesin family member 21B							130.0	113.0	119.0					1																	200969089		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200969089G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1689C>T	1.37:g.200969089G>A						KIF21B_ENST00000360529.5_Silent_p.P563P|KIF21B_ENST00000422435.2_Silent_p.P563P|KIF21B_ENST00000461742.2_Silent_p.P563P	p.P563P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			12	2005	-			563					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1689C>T	CCDS58056.1																																																																																				0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		112	327	0	0	0	1	0	112	327				
SEMA3A	10371	broad.mit.edu	37	7	83675699	83675699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:83675699C>T	ENST00000265362.4	-	6	922	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	203	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCCAAGAGTTCGGAAGATAGC	0.428																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(607-609)cGa>cAa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							217.0	194.0	202.0					7																	83675699		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83675699C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.608G>A	7.37:g.83675699C>T	ENSP00000265362:p.Arg203Gln					SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			6	922	-			203			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.608G>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818528	0.96982	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.59224	0.28;0.28	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.85099	2.735	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	T	0.81571	-0.0872	10	0.87932	D	0	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	203	Q14563	SEM3A_HUMAN	Q	203	ENSP00000265362:R203Q;ENSP00000415260:R203Q	ENSP00000265362:R203Q	R	-	2	0	SEMA3A	83513635	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.779000	0.95612	0.650000	0.86243	CGA		0.428	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		134	571	0	0	0	1	0	134	571				
PLSCR4	57088	broad.mit.edu	37	3	145912991	145912991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145912991C>T	ENST00000354952.2	-	8	1105	c.865G>A	c.(865-867)Gct>Act	p.A289T	PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T|PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	289					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AAATGGTCAGCATCTGCCATT	0.428																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(865-867)Gct>Act		phospholipid scramblase 4							176.0	143.0	154.0					3																	145912991		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145912991C>T	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.865G>A	3.37:g.145912991C>T	ENSP00000347038:p.Ala289Thr					PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T|PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T	p.A289T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			8	1105	-			289					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.865G>A	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960136	0.34565	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.75	3.87	0.44632	.	0.106971	0.41823	D	0.000804	T	0.34221	0.0890	L	0.49640	1.575	0.31693	N	0.641593	P;P	0.49185	0.58;0.92	B;P	0.50860	0.365;0.652	T	0.41466	-0.9507	10	0.46703	T	0.11	.	7.3351	0.26605	0.1703:0.7433:0.0:0.0864	.	199;289	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	T	289;199;184;289;289	ENSP00000347038:A289T;ENSP00000372561:A199T;ENSP00000415605:A184T;ENSP00000399315:A289T;ENSP00000419040:A289T	ENSP00000347038:A289T	A	-	1	0	PLSCR4	147395681	0.591000	0.26824	0.981000	0.43875	0.012000	0.07955	0.804000	0.27098	1.334000	0.45468	-0.282000	0.10007	GCT		0.428	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		69	341	0	0	0	1	0	69	341				
IDH3G	3421	broad.mit.edu	37	X	153053284	153053284	+	Missense_Mutation	SNP	C	C	A	rs148318932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153053284C>A	ENST00000217901.5	-	7	730	c.534G>T	c.(532-534)gaG>gaT	p.E178D	IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178D|IDH3G_ENST00000370092.3_Missense_Mutation_p.E178D	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	178					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACACCTCATGCTCCAGGCTGC	0.592																																						ENST00000370092.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(532-534)gaG>gaT		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)						112.0	95.0	101.0					X																	153053284		2203	4300	6503	SO:0001583	missense	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153053284C>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.534G>T	X.37:g.153053284C>A	ENSP00000217901:p.Glu178Asp					IDH3G_ENST00000217901.5_Missense_Mutation_p.E178D|IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178D	p.E178D	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN			7	719	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		178					E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	c.534G>T	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127497	0.77549	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.68	5.59	2.44	0.29823	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.96080	3.765	0.54753	D	0.99998	D;D	0.89917	1.0;0.992	D;D	0.87578	0.998;0.983	T	0.79792	-0.1654	10	0.87932	D	0	.	9.0405	0.36314	0.0:0.6392:0.0:0.3608	.	178;178	E9PDD5;P51553	.;IDH3G_HUMAN	D	178;178;178;120;74;155;118	ENSP00000359110:E178D;ENSP00000217901:E178D;ENSP00000359111:E178D;ENSP00000408529:E120D;ENSP00000401862:E155D;ENSP00000402747:E118D	ENSP00000217901:E178D	E	-	3	2	IDH3G	152706478	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.725000	0.25970	0.545000	0.28902	0.529000	0.55759	GAG		0.592	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			20	710	1	0	3.5997e-14	1	3.90403e-14	20	710				
CFAP61	26074	broad.mit.edu	37	20	20269275	20269275	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20269275A>C	ENST00000245957.5	+	23	2895	c.2819A>C	c.(2818-2820)aAg>aCg	p.K940T	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		940										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTCTGTGAGAAGAATGTGGAT	0.403																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2818-2820)aAg>aCg		chromosome 20 open reading frame 26							189.0	182.0	185.0					20																	20269275		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269275A>C																												ENST00000245957.5:c.2819A>C	20.37:g.20269275A>C	ENSP00000245957:p.Lys940Thr					C20orf26_ENST00000377309.2_Intron	p.K940T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2895	+			940					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2819A>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729971	0.69074	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.12879	2.64	5.6	5.6	0.85130	.	0.051644	0.85682	D	0.000000	T	0.36166	0.0957	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.12477	-1.0546	10	0.72032	D	0.01	.	11.6781	0.51442	0.929:0.0:0.071:0.0	.	940	Q8NHU2	CT026_HUMAN	T	880;906;940	ENSP00000245957:K940T	ENSP00000245957:K940T	K	+	2	0	C20orf26	20217275	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.045000	0.64220	2.142000	0.66516	0.528000	0.53228	AAG		0.403	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			158	831	0	0	0	1	0	158	831				
TNNT3	7140	broad.mit.edu	37	11	1955621	1955621	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1955621G>T	ENST00000397301.1	+	13	467	c.459G>T	c.(457-459)aaG>aaT	p.K153N	TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000381558.1_Missense_Mutation_p.K134N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	153					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACGACCTGAAGAAGAAGAAAG	0.582																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(400-402)aaG>aaT		troponin T type 3 (skeletal, fast)							112.0	105.0	107.0					11																	1955621		2202	4298	6500	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1955621G>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.459G>T	11.37:g.1955621G>T	ENSP00000380468:p.Lys153Asn					TNNT3_ENST00000397301.1_Missense_Mutation_p.K153N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N	p.K134N			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	11	681	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	153					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.402G>T		.	.	.	.	.	.	.	.	.	.	.	18.94	3.729644	0.69074	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	4.66	1.66	0.24008	.	0.048143	0.85682	N	0.000000	D	0.91784	0.7401	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.995;0.995;0.995;0.998	D;D;D;D;D	0.70487	0.948;0.948;0.948;0.948;0.969	D	0.89446	0.3727	10	0.87932	D	0	-15.3383	6.8869	0.24208	0.1526:0.0:0.7057:0.1416	.	142;134;140;134;153	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	N	142;38;154;145;144;136;134;140;134;128;123;145;129;134;153;123;123	ENSP00000278317:K142N;ENSP00000370973:K145N;ENSP00000370960:K144N;ENSP00000353815:K136N;ENSP00000370961:K134N;ENSP00000371001:K140N;ENSP00000370991:K134N;ENSP00000370969:K128N;ENSP00000415614:K123N;ENSP00000370975:K145N;ENSP00000344870:K129N;ENSP00000370970:K134N;ENSP00000380468:K153N;ENSP00000380471:K123N;ENSP00000413203:K123N	ENSP00000278317:K142N	K	+	3	2	TNNT3	1912197	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.268000	0.65536	0.139000	0.18822	0.313000	0.20887	AAG		0.582	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		30	176	1	0	5.09552e-08	1	5.30909e-08	30	176				
ZNF616	90317	broad.mit.edu	37	19	52619913	52619913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52619913C>A	ENST00000600228.1	-	4	765	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATTACCTGTCTTCTCCGTTT	0.373																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(502-504)aaG>aaT		zinc finger protein 616							161.0	150.0	154.0					19																	52619913		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619913C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.504G>T	19.37:g.52619913C>A	ENSP00000471000:p.Lys168Asn					ZNF616_ENST00000330123.5_3'UTR	p.K168N	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	765	-			168					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.504G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	6.274	0.418606	0.11870	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	0.48	0.16804	.	.	.	.	.	T	0.46054	0.1373	M	0.82823	2.61	0.09310	N	1	P	0.41450	0.75	B	0.43360	0.417	T	0.40136	-0.9579	8	0.56958	D	0.05	.	4.9941	0.14230	0.0:0.6544:0.0:0.3456	.	168	Q08AN1	ZN616_HUMAN	N	168	.	ENSP00000328722:K168N	K	-	3	2	ZNF616	57311725	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.389000	0.02530	0.029000	0.15352	0.305000	0.20034	AAG		0.373	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		53	560	1	0	1.08114e-33	1	1.28246e-33	53	560				
TRNAU1AP	54952	broad.mit.edu	37	1	28906429	28906429	+	IGR	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28906429A>G	ENST00000373830.3	+	0	1793				SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000384342.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TTTACCTTAAAGCACAGCTCC	0.458																																						ENST00000488745.1																			0																				68.0	65.0	66.0					1																	28906429		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr1:28906429A>G		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906429A>G						SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA								0	1164	-								Q86SU7	RNA	SNP	ENST00000373830.3	37		CCDS324.1																																																																																				0.458	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		7	209	0	0	0	1	0	7	209				
USP49	25862	broad.mit.edu	37	6	41774184	41774184	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774184G>A	ENST00000394253.3	-	3	867	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	USP49_ENST00000373010.1_Missense_Mutation_p.R180C|USP49_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C|USP49_ENST00000297229.2_Missense_Mutation_p.R180C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	180					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTCTTGCGCTCCAGGGCC	0.726																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(538-540)Cgc>Tgc		ubiquitin specific peptidase 49							8.0	10.0	9.0					6																	41774184		2110	4116	6226	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774184G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.538C>T	6.37:g.41774184G>A	ENSP00000377797:p.Arg180Cys					USP49_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000373010.1_Missense_Mutation_p.R180C|USP49_ENST00000297229.2_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C	p.R180C			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	867	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		180					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.538C>T		.	.	.	.	.	.	.	.	.	.	G	10.37	1.330258	0.24167	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.07567	3.67;3.18;3.67;3.44;3.44	4.29	2.28	0.28536	.	0.238802	0.35615	N	0.003088	T	0.05502	0.0145	L	0.29908	0.895	0.43435	D	0.995605	D	0.57257	0.979	P	0.52710	0.707	T	0.29852	-0.9998	10	0.66056	D	0.02	-12.386	10.509	0.44851	0.0:0.0:0.4072:0.5928	.	180	Q70CQ1-2	.	C	180	ENSP00000377797:R180C;ENSP00000362101:R180C;ENSP00000362100:R180C;ENSP00000362097:R180C;ENSP00000297229:R180C	ENSP00000297229:R180C	R	-	1	0	USP49	41882162	0.988000	0.35896	0.999000	0.59377	0.016000	0.09150	2.116000	0.41930	0.995000	0.38917	-0.169000	0.13324	CGC		0.726	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		24	107	0	0	0	1	0	24	107				
NPHP3	27031	broad.mit.edu	37	3	132423136	132423136	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132423136A>C	ENST00000337331.5	-	9	1516	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	NPHP3_ENST00000326682.8_Missense_Mutation_p.F477C|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	477					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACATCACCAAAATCATCTTC	0.413																																						ENST00000326682.8																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1429-1431)tTt>tGt		nephronophthisis 3 (adolescent)							258.0	266.0	263.0					3																	132423136		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132423136A>C	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1430T>G	3.37:g.132423136A>C	ENSP00000338766:p.Phe477Cys					NPHP3_ENST00000337331.5_Missense_Mutation_p.F477C	p.F477C			Q7Z494	NPHP3_HUMAN			9	1506	-			477					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.1430T>G	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246680	0.59103	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91577	-2.87;-2.75	5.77	1.57	0.23409	.	0.342467	0.35151	N	0.003406	D	0.82861	0.5129	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.73023	-0.4113	10	0.34782	T	0.22	-13.3143	6.0096	0.19567	0.7074:0.0:0.1372:0.1554	.	477	Q7Z494	NPHP3_HUMAN	C	477	ENSP00000319909:F477C;ENSP00000338766:F477C	ENSP00000319909:F477C	F	-	2	0	NPHP3	133905826	0.997000	0.39634	0.333000	0.25482	0.987000	0.75469	2.987000	0.49378	0.548000	0.28955	0.533000	0.62120	TTT		0.413	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		240	1054	0	0	0	1	0	240	1054				
YTHDC1	91746	broad.mit.edu	37	4	69202958	69202958	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69202958C>T	ENST00000344157.4	-	4	1005	c.670G>A	c.(670-672)Gag>Aag	p.E224K	YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K|YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	224	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tcatccacctcttcatcttct	0.478																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(670-672)Gag>Aag		YTH domain containing 1							101.0	84.0	90.0					4																	69202958		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69202958C>T	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.670G>A	4.37:g.69202958C>T	ENSP00000339245:p.Glu224Lys					YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K|YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K	p.E224K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1005	-			224			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.670G>A	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358313	0.61403	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28069	1.65;1.63	5.45	5.45	0.79879	.	0.191891	0.43747	D	0.000523	T	0.18841	0.0452	N	0.14661	0.345	0.52099	D	0.999948	P;P	0.40476	0.718;0.596	B;B	0.35353	0.201;0.099	T	0.05767	-1.0865	10	0.13853	T	0.58	.	18.894	0.92416	0.0:1.0:0.0:0.0	.	224;224	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	K	224	ENSP00000339245:E224K;ENSP00000347888:E224K	ENSP00000339245:E224K	E	-	1	0	YTHDC1	68885553	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.747000	0.74872	2.568000	0.86640	0.460000	0.39030	GAG		0.478	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		19	112	0	0	0	1	0	19	112				
PSMA4	5685	broad.mit.edu	37	15	78837253	78837253	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78837253G>A	ENST00000044462.7	+	6	480	c.330G>A	c.(328-330)ttG>ttA	p.L110L	PSMA4_ENST00000560217.1_Silent_p.L79L|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000413382.2_Silent_p.L39L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTGAGCAGTTGGTTACAGCGC	0.328																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(328-330)ttG>ttA		proteasome (prosome, macropain) subunit, alpha type, 4							103.0	99.0	100.0					15																	78837253		2196	4293	6489	SO:0001819	synonymous_variant	5685				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78837253G>A	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.330G>A	15.37:g.78837253G>A						PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000413382.2_Silent_p.L39L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000560217.1_Silent_p.L79L	p.L110L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN			6	480	+			110					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Silent	SNP	ENST00000044462.7	37	c.330G>A	CCDS10303.1																																																																																				0.328	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		53	236	0	0	0	1	0	53	236				
TMC7	79905	broad.mit.edu	37	16	19058438	19058438	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19058438A>G	ENST00000304381.5	+	12	1737	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R	TMC7_ENST00000421369.3_Missense_Mutation_p.Q426R|TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	536					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGGGGCAGCAGGAGTTTGCC	0.532																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1276-1278)cAg>cGg		transmembrane channel-like 7							230.0	229.0	229.0					16																	19058438		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19058438A>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1607A>G	16.37:g.19058438A>G	ENSP00000304710:p.Gln536Arg					TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R|TMC7_ENST00000304381.5_Missense_Mutation_p.Q536R	p.Q426R	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			12	1835	+			536					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1277A>G	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752720	0.89753	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.64803	-0.12;-0.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.85373	2.75	0.58432	D	0.999997	D;P	0.53151	0.958;0.915	P;P	0.62560	0.904;0.885	D	0.83469	0.0058	10	0.72032	D	0.01	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	536;536	Q7Z402;B3KSZ3	TMC7_HUMAN;.	R	536;426	ENSP00000304710:Q536R;ENSP00000397081:Q426R	ENSP00000304710:Q536R	Q	+	2	0	TMC7	18965939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.169000	0.71913	2.146000	0.66826	0.533000	0.62120	CAG		0.532	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		282	1115	0	0	0	1	0	282	1115				
GSTM2	2946	broad.mit.edu	37	1	110211562	110211562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110211562G>A	ENST00000241337.4	+	3	178	c.128G>A	c.(127-129)aGa>aAa	p.R43K	GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369831.2_Missense_Mutation_p.R43K|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	43	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|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)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GATTATGACAGAAGCCAGTGG	0.552																																						ENST00000369831.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(127-129)aGa>aAa		glutathione S-transferase mu 2 (muscle)							54.0	54.0	54.0					1																	110211562		2203	4300	6503	SO:0001583	missense	2946							g.chr1:110211562G>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.128G>A	1.37:g.110211562G>A	ENSP00000241337:p.Arg43Lys					GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000241337.4_Missense_Mutation_p.R43K|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K|GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K	p.R43K						all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	222	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.128G>A	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458687	0.26248	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	3.27	2.27	0.28462	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.286703	0.31660	N	0.007277	T	0.08626	0.0214	N	0.16602	0.42	0.24752	N	0.992977	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.002;0.008;0.005	T	0.25572	-1.0128	10	0.33141	T	0.24	.	4.9241	0.13885	0.3218:0.0:0.6782:0.0	.	43;43;43	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	43;41;43;43;43;43;43	ENSP00000416883:R43K;ENSP00000358842:R41K;ENSP00000358846:R43K;ENSP00000435910:R43K;ENSP00000435157:R43K;ENSP00000358844:R43K;ENSP00000241337:R43K	ENSP00000241337:R43K	R	+	2	0	GSTM2	110013085	0.919000	0.31177	1.000000	0.80357	0.908000	0.53690	0.480000	0.22244	0.616000	0.30141	0.454000	0.30748	AGA		0.552	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		66	236	0	0	0	1	0	66	236				
LEMD2	221496	broad.mit.edu	37	6	33744826	33744826	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744826G>T	ENST00000293760.5	-	8	1285	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Silent_p.V120V	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	422					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AATGGTCCTGGACCACGTCTG	0.582																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1264-1266)gtC>gtA		LEM domain containing 2							138.0	120.0	126.0					6																	33744826		2203	4300	6503	SO:0001819	synonymous_variant	221496					integral to nuclear inner membrane		g.chr6:33744826G>T		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1266C>A	6.37:g.33744826G>T						LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Silent_p.V120V	p.V422V	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			8	1285	-			422					B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	ENST00000293760.5	37	c.1266C>A	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	G	9.815	1.184209	0.21870	.	.	ENSG00000161904	ENST00000504692	.	.	.	5.66	-1.11	0.09840	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	-11.3519	2.9184	0.05760	0.1335:0.3101:0.3499:0.2065	.	.	.	.	T	70	.	.	P	-	1	0	LEMD2	33852804	0.987000	0.35691	1.000000	0.80357	0.958000	0.62258	0.071000	0.14594	0.277000	0.22141	-0.302000	0.09304	CCA		0.582	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		39	446	1	0	6.29468e-14	1	6.81746e-14	39	446				
GNG7	2788	broad.mit.edu	37	19	2515062	2515062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2515062C>T	ENST00000382159.3	-	5	362	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	55					behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTTCTCCGAGGCAGGGA	0.498																																						ENST00000382159.3																			0				central_nervous_system(2)|large_intestine(1)	3						c.(163-165)tcG>tcA		guanine nucleotide binding protein (G protein), gamma 7							77.0	83.0	81.0					19																	2515062		2203	4300	6503	SO:0001819	synonymous_variant	2788				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr19:2515062C>T	AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533			4410	protein-coding gene	gene with protein product		604430				9600093	Standard	NM_052847		Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.165G>A	19.37:g.2515062C>T							p.S55S	NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	362	-		Hepatocellular(1079;0.137)	55					B2R496	Silent	SNP	ENST00000382159.3	37	c.165G>A	CCDS12091.1																																																																																				0.498	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451345.1	NM_052847		100	456	0	0	0	1	0	100	456				
MAP3K7	6885	broad.mit.edu	37	6	91254333	91254333	+	Missense_Mutation	SNP	C	C	T	rs201721045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:91254333C>T	ENST00000369329.3	-	12	1390	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q|MAP3K7_ENST00000369327.3_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	410					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACGGTGGCCCCGTTTAGGCTT	0.408																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1228-1230)cGg>cAg		mitogen-activated protein kinase kinase kinase 7							120.0	115.0	116.0					6																	91254333		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91254333C>T	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1229G>A	6.37:g.91254333C>T	ENSP00000358335:p.Arg410Gln					MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369320.1_Intron	p.R410Q	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	12	1390	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	410					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.1229G>A	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957146	0.73902	.	.	ENSG00000135341	ENST00000369329;ENST00000369325	T;T	0.76316	-0.98;-1.01	5.47	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.03608	-0.345	0.80722	D	1	B;D	0.64830	0.401;0.994	B;P	0.61201	0.02;0.885	T	0.63554	-0.6611	10	0.09338	T	0.73	.	16.2921	0.82757	0.0:0.8672:0.1328:0.0	.	410;410	O43318-3;O43318	.;M3K7_HUMAN	Q	410	ENSP00000358335:R410Q;ENSP00000358331:R410Q	ENSP00000358331:R410Q	R	-	2	0	MAP3K7	91311054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.646000	0.61411	1.302000	0.44855	0.491000	0.48974	CGG		0.408	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		13	308	0	0	0	1	0	13	308				
OTOF	9381	broad.mit.edu	37	2	26698861	26698861	+	Missense_Mutation	SNP	C	C	A	rs397515596		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26698861C>A	ENST00000272371.2	-	24	3038	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000402415.3_Missense_Mutation_p.S281I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	971	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAAAGAGGCTGCGGGCCTG	0.652																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(2911-2913)aGc>aTc		otoferlin							43.0	39.0	40.0					2																	26698861		2201	4295	6496	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26698861C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2912G>T	2.37:g.26698861C>A	ENSP00000272371:p.Ser971Ile					OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000402415.3_Missense_Mutation_p.S281I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I	p.S971I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			24	3038	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		971			C2 3.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2912G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877370	0.91664	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.72576	2.205	0.80722	D	1	D;P;D;D	0.89917	1.0;0.916;1.0;0.995	D;P;D;D	0.77004	0.989;0.583;0.988;0.974	T	0.81174	-0.1053	10	0.46703	T	0.11	-41.4175	18.7824	0.91939	0.0:1.0:0.0:0.0	.	971;224;281;224	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	224;224;281;971;971	ENSP00000345137:S224I;ENSP00000344521:S224I;ENSP00000383906:S281I;ENSP00000272371:S971I;ENSP00000385255:S971I	ENSP00000272371:S971I	S	-	2	0	OTOF	26552365	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.017000	0.70805	2.546000	0.85860	0.561000	0.74099	AGC		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			37	112	1	0	2.35968e-33	1	2.79644e-33	37	112				
FAM126B	285172	broad.mit.edu	37	2	201887576	201887576	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201887576A>C	ENST00000418596.3	-	4	318	c.131T>G	c.(130-132)gTt>gGt	p.V44G	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	44						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTGAATAACTTTATAGAG	0.328																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(130-132)gTt>gGt		family with sequence similarity 126, member B							92.0	93.0	93.0					2																	201887576		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201887576A>C	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.131T>G	2.37:g.201887576A>C	ENSP00000393667:p.Val44Gly					FAM126B_ENST00000485144.1_5'UTR	p.V44G	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			4	318	-			44					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.131T>G	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627956	0.66901	.	.	ENSG00000155744	ENST00000418596;ENST00000452799;ENST00000453765;ENST00000446678	T;T;T;D	0.85955	-1.25;-1.25;-1.25;-2.05	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93478	0.6825	10	0.87932	D	0	-12.7992	15.9596	0.79918	1.0:0.0:0.0:0.0	.	44	Q8IXS8	F126B_HUMAN	G	44	ENSP00000393667:V44G;ENSP00000401905:V44G;ENSP00000408374:V44G;ENSP00000412139:V44G	ENSP00000286181:V44G	V	-	2	0	FAM126B	201595821	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.860000	0.92272	2.220000	0.72140	0.533000	0.62120	GTT		0.328	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		61	331	0	0	0	1	0	61	331				
CEP89	84902	broad.mit.edu	37	19	33444582	33444582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33444582C>A	ENST00000305768.5	-	4	519	c.431G>T	c.(430-432)aGt>aTt	p.S144I	CEP89_ENST00000590597.2_Missense_Mutation_p.S144I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	144					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCCCGGGCACTGACATCCCC	0.498																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(430-432)aGt>aTt		centrosomal protein 89kDa							344.0	357.0	352.0					19																	33444582		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33444582C>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.431G>T	19.37:g.33444582C>A	ENSP00000306105:p.Ser144Ile					CEP89_ENST00000590597.1_Missense_Mutation_p.S144I	p.S144I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			4	519	-			144					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.431G>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047520	0.36085	.	.	ENSG00000121289	ENST00000305768	T	0.31769	1.48	4.61	2.35	0.29111	.	1.440660	0.03939	N	0.286619	T	0.53546	0.1803	M	0.67953	2.075	0.09310	N	1	D;P;P	0.67145	0.996;0.911;0.813	D;P;B	0.65010	0.931;0.653;0.348	T	0.22277	-1.0221	10	0.56958	D	0.05	0.9008	9.8065	0.40797	0.3738:0.6262:0.0:0.0	.	115;144;144	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	I	144	ENSP00000306105:S144I	ENSP00000306105:S144I	S	-	2	0	CEP89	38136422	0.009000	0.17119	0.000000	0.03702	0.033000	0.12548	1.234000	0.32660	0.420000	0.25954	0.591000	0.81541	AGT		0.498	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		114	1130	1	0	1.62263e-30	1	1.90432e-30	114	1130				
ZBTB40	9923	broad.mit.edu	37	1	22846692	22846692	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22846692C>T	ENST00000375647.4	+	14	3179	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F|ZBTB40-IT1_ENST00000438551.1_RNA|ZBTB40_ENST00000404138.1_Missense_Mutation_p.S991F	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	991					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGTGCCCCGTCCATGCTGGAG	0.607																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2971-2973)tCc>tTc		zinc finger and BTB domain containing 40							115.0	92.0	100.0					1																	22846692		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22846692C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2972C>T	1.37:g.22846692C>T	ENSP00000364798:p.Ser991Phe					ZBTB40_ENST00000375647.4_Missense_Mutation_p.S991F|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F	p.S991F	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	15	3483	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	991					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.2972C>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801189	0.70567	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07567	3.18;3.18;3.18	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000062	T	0.31513	0.0799	M	0.74546	2.27	0.51482	D	0.999926	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.00712	-1.1598	10	0.72032	D	0.01	-20.6777	18.585	0.91185	0.0:1.0:0.0:0.0	.	879;991	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	F	991;991;879	ENSP00000384527:S991F;ENSP00000364798:S991F;ENSP00000363782:S879F	ENSP00000363782:S879F	S	+	2	0	ZBTB40	22719279	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.684000	0.68197	2.735000	0.93741	0.561000	0.74099	TCC		0.607	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		35	385	0	0	0	1	0	35	385				
FUK	197258	broad.mit.edu	37	16	70501802	70501802	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70501802A>G	ENST00000288078.6	+	8	828	c.596A>G	c.(595-597)gAc>gGc	p.D199G	FUK_ENST00000378912.2_Missense_Mutation_p.D231G|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	199						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTTGTTTTGGACATTTACTAC	0.597																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(595-597)gAc>gGc		fucokinase							84.0	86.0	85.0					16																	70501802		2057	4212	6269	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70501802A>G		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.596A>G	16.37:g.70501802A>G	ENSP00000288078:p.Asp199Gly					FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.D231G	p.D199G	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			8	828	+		Ovarian(137;0.0694)	199					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.596A>G	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797143	0.70567	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.32988	1.43;1.43	5.17	5.17	0.71159	L-fucokinase (1);	0.123047	0.52532	D	0.000076	T	0.53658	0.1810	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.988	T	0.53940	-0.8367	10	0.44086	T	0.13	-23.5079	14.3028	0.66364	1.0:0.0:0.0:0.0	.	231;199	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	G	199;231	ENSP00000288078:D199G;ENSP00000368192:D231G	ENSP00000288078:D199G	D	+	2	0	FUK	69059303	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	6.373000	0.73128	2.102000	0.63906	0.459000	0.35465	GAC		0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		68	242	0	0	0	1	0	68	242				
SYT11	23208	broad.mit.edu	37	1	155851245	155851245	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851245C>A	ENST00000368324.4	+	4	1495	c.1242C>A	c.(1240-1242)gtC>gtA	p.V414V	SYT11_ENST00000539162.1_Silent_p.V107V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	414					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGAGAGAGGTCTGCGAGAGCC	0.597																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1240-1242)gtC>gtA		synaptotagmin XI							61.0	68.0	66.0					1																	155851245		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851245C>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1242C>A	1.37:g.155851245C>A						SYT11_ENST00000539162.1_Silent_p.V107V	p.V414V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1495	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		414					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.1242C>A	CCDS1122.1																																																																																				0.597	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		182	514	1	0	5.35463e-67	1	6.77998e-67	182	514				
TLDC1	57707	broad.mit.edu	37	16	84522931	84522931	+	Missense_Mutation	SNP	C	C	T	rs148973129	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84522931C>T	ENST00000343629.6	-	4	664	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TLDC1_ENST00000535580.1_Missense_Mutation_p.R134Q|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	161						lysosomal membrane (GO:0005765)											CACCTGCACCCGGGGGTTGGG	0.602																																						ENST00000343629.6																			0											c.(481-483)cGg>cAg		TBC/LysM-associated domain containing 1		C	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	47.0	46.0	46.0		482	4.1	0.0	16	dbSNP_134	46	0,8600		0,0,4300	no	missense	KIAA1609	NM_020947.3	43	0,2,6498	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	161/457	84522931	2,12998	2200	4300	6500	SO:0001583	missense	57707							g.chr16:84522931C>T	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.482G>A	16.37:g.84522931C>T	ENSP00000343635:p.Arg161Gln					TLDC1_ENST00000535580.1_Missense_Mutation_p.R134Q	p.R161Q	NM_020947.3	NP_065998.3					4	664	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.482G>A	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727535	0.48833	4.55E-4	0.0	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.09538	3.15;2.97	5.04	4.08	0.47627	.	0.325911	0.35207	N	0.003363	T	0.17152	0.0412	M	0.63428	1.95	0.09310	N	1	D;D	0.67145	0.965;0.996	B;P	0.47981	0.3;0.563	T	0.10965	-1.0607	10	0.27082	T	0.32	-11.5717	14.6301	0.68650	0.0:0.8536:0.1464:0.0	.	134;161	F5GWS3;Q6P9B6	.;K1609_HUMAN	Q	161;134	ENSP00000343635:R161Q;ENSP00000441997:R134Q	ENSP00000343635:R161Q	R	-	2	0	KIAA1609	83080432	0.846000	0.29590	0.011000	0.14972	0.112000	0.19704	6.819000	0.75262	1.100000	0.41517	0.591000	0.81541	CGG		0.602	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		83	208	0	0	0	1	0	83	208				
EPHB6	2051	broad.mit.edu	37	7	142566809	142566809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142566809T>G	ENST00000392957.2	+	16	3153	c.2366T>G	c.(2365-2367)tTt>tGt	p.F789C	EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGTCCAGCTTTGCCTTCGTC	0.642																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2365-2367)tTt>tGt		EPH receptor B6							66.0	56.0	60.0					7																	142566809		2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566809T>G	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2366T>G	7.37:g.142566809T>G	ENSP00000376684:p.Phe789Cys					EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	p.F789C	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			16	3153	+	Melanoma(164;0.059)		789			Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2366T>G	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	14.28	2.486867	0.44249	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82526	-1.62;-1.62;-1.62	5.56	4.45	0.53987	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144593	0.32533	N	0.005977	T	0.67192	0.2867	N	0.05199	-0.095	0.37223	D	0.905338	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.69165	-0.5217	10	0.66056	D	0.02	.	12.7526	0.57316	0.0:0.0:0.1672:0.8328	.	789;512	O15197;O15197-2	EPHB6_HUMAN;.	C	789;789;512	ENSP00000376684:F789C;ENSP00000410789:F789C;ENSP00000409061:F512C	ENSP00000376684:F789C	F	+	2	0	EPHB6	142276931	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.210000	0.58500	2.112000	0.64535	0.379000	0.24179	TTT		0.642	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			31	200	0	0	0	1	0	31	200				
GAS2L3	283431	broad.mit.edu	37	12	101017454	101017454	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017454A>C	ENST00000539410.1	+	9	1257	c.871A>C	c.(871-873)Aaa>Caa	p.K291Q	GAS2L3_ENST00000537247.1_Missense_Mutation_p.K187Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	291					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTAGAACAAAAAATTTTAGC	0.403																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(559-561)Aaa>Caa		growth arrest-specific 2 like 3							79.0	82.0	81.0					12																	101017454		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017454A>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.871A>C	12.37:g.101017454A>C	ENSP00000439672:p.Lys291Gln					GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q|GAS2L3_ENST00000539410.1_Missense_Mutation_p.K291Q	p.K187Q			Q86XJ1	GA2L3_HUMAN			10	1513	+			291					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.559A>C	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602846	0.87157	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.72;1.72;1.77;1.72	5.47	5.47	0.80525	Growth-arrest-specific protein 2 domain (2);	0.116335	0.64402	D	0.000017	T	0.50411	0.1614	M	0.69823	2.125	0.45515	D	0.998478	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.41790	T	0.15	-19.3779	15.5533	0.76170	1.0:0.0:0.0:0.0	.	291	Q86XJ1	GA2L3_HUMAN	Q	291;291;187;291	ENSP00000266754:K291Q;ENSP00000448955:K291Q;ENSP00000442406:K187Q;ENSP00000439672:K291Q	ENSP00000266754:K291Q	K	+	1	0	GAS2L3	99541585	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.886000	0.92447	2.087000	0.62958	0.533000	0.62120	AAA		0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		100	418	0	0	0	1	0	100	418				
AKR1B1	231	broad.mit.edu	37	7	134133752	134133752	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133752G>T	ENST00000285930.4	-	5	628	c.549C>A	c.(547-549)aaC>aaA	p.N183K	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	183					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	TGTTTACCTGGTTAACTGCAG	0.488																																						ENST00000285930.4																			0				kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14						c.(547-549)aaC>aaA		aldo-keto reductase family 1, member B1 (aldose reductase)	NADH(DB00157)|Sulindac(DB00605)						208.0	190.0	196.0					7																	134133752		2203	4300	6503	SO:0001583	missense	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134133752G>T	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.549C>A	7.37:g.134133752G>T	ENSP00000285930:p.Asn183Lys						p.N183K	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN			5	628	-			183					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	c.549C>A	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869956	0.72065	.	.	ENSG00000085662	ENST00000285930	T	0.26810	1.71	5.23	5.23	0.72850	NADP-dependent oxidoreductase domain (3);	0.133468	0.64402	D	0.000003	T	0.66761	0.2822	H	0.98646	4.29	0.53005	D	0.999965	D	0.89917	1.0	D	0.76575	0.988	T	0.79364	-0.1834	10	0.87932	D	0	.	13.5061	0.61485	0.0775:0.0:0.9225:0.0	.	183	P15121	ALDR_HUMAN	K	183	ENSP00000285930:N183K	ENSP00000285930:N183K	N	-	3	2	AKR1B1	133784292	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	0.956000	0.29202	2.608000	0.88229	0.561000	0.74099	AAC		0.488	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		136	597	1	0	3.29933e-67	1	4.178e-67	136	597				
DPH1	1801	broad.mit.edu	37	17	1943631	1943631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943631G>A	ENST00000263083.6	+	8	929	c.884G>A	c.(883-885)gGc>gAc	p.G295D	DPH1_ENST00000570477.1_Missense_Mutation_p.G215D|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	295					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTTATTCTGGGCACTTTGGGC	0.592																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(883-885)gGc>gAc		diphthamide biosynthesis 1							55.0	56.0	56.0					17																	1943631		1970	4150	6120	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943631G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.884G>A	17.37:g.1943631G>A	ENSP00000263083:p.Gly295Asp					DPH1_ENST00000570477.1_Missense_Mutation_p.G215D	p.G295D	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			8	929	+			295					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.884G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719372	0.89205	.	.	ENSG00000108963	ENST00000263083	T	0.54866	0.55	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.996;0.998;0.986	D	0.85799	0.1372	10	0.87932	D	0	-18.5475	17.1373	0.86743	0.0:0.0:1.0:0.0	.	305;305;295	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	D	295	ENSP00000263083:G295D	ENSP00000263083:G295D	G	+	2	0	DPH1	1890381	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.199000	0.72112	2.380000	0.81148	0.491000	0.48974	GGC		0.592	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		43	396	0	0	0	1	0	43	396				
SULT1C4	27233	broad.mit.edu	37	2	108998883	108998883	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108998883A>G	ENST00000272452.2	+	3	664	c.338A>G	c.(337-339)aAa>aGa	p.K113R	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	113	Substrate binding. {ECO:0000250}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGATCCTGAAAACACATCTT	0.388																																						ENST00000272452.2																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(337-339)aAa>aGa		sulfotransferase family, cytosolic, 1C, member 4							255.0	240.0	245.0					2																	108998883		2203	4300	6503	SO:0001583	missense	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108998883A>G	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.338A>G	2.37:g.108998883A>G	ENSP00000272452:p.Lys113Arg					SULT1C4_ENST00000409309.3_Intron	p.K113R	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN			3	664	+			113					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	c.338A>G	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630609	0.87660	.	.	ENSG00000198075	ENST00000272452	T	0.02763	4.17	4.44	4.44	0.53790	Sulfotransferase domain (1);	0.000000	0.53938	D	0.000055	T	0.10766	0.0263	M	0.76938	2.355	0.80722	D	1	P	0.47191	0.891	P	0.53988	0.739	T	0.01039	-1.1472	10	0.49607	T	0.09	.	13.3112	0.60380	1.0:0.0:0.0:0.0	.	113	O75897	ST1C4_HUMAN	R	113	ENSP00000272452:K113R	ENSP00000272452:K113R	K	+	2	0	SULT1C4	108365315	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.839000	0.62810	1.986000	0.57962	0.496000	0.49642	AAA		0.388	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		235	1090	0	0	0	1	0	235	1090				
ETV7	51513	broad.mit.edu	37	6	36336729	36336729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36336729C>T	ENST00000340181.4	-	6	1025	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ETV7_ENST00000373738.1_Missense_Mutation_p.A207T|ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000538992.1_Missense_Mutation_p.A111T|ETV7_ENST00000339796.5_Missense_Mutation_p.A262T	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	262					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CAGAGTCTGGCGAGCCCATTT	0.537																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(619-621)Gcc>Acc		ets variant 7							198.0	181.0	187.0					6																	36336729		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36336729C>T	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.784G>A	6.37:g.36336729C>T	ENSP00000341843:p.Ala262Thr					ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000538992.1_Missense_Mutation_p.A111T|ETV7_ENST00000339796.5_Missense_Mutation_p.A262T|ETV7_ENST00000340181.4_Missense_Mutation_p.A262T	p.A207T	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN			5	1464	-			262					B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.619G>A	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221298	0.95139	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.18	4.18	0.49190	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.143577	0.46145	U	0.000312	T	0.61874	0.2382	M	0.91818	3.245	0.58432	D	0.999995	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;0.999;1.0;0.998;1.0	T	0.74182	-0.3748	10	0.87932	D	0	.	16.1147	0.81301	0.0:1.0:0.0:0.0	.	203;185;207;262;207;262	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	T	262;262;185;207;111	ENSP00000342260:A262T;ENSP00000341843:A262T;ENSP00000362842:A185T;ENSP00000362843:A207T;ENSP00000440592:A111T	ENSP00000342260:A262T	A	-	1	0	ETV7	36444707	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.976000	0.76135	1.865000	0.54081	0.655000	0.94253	GCC		0.537	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		133	644	0	0	0	1	0	133	644				
GCLC	2729	broad.mit.edu	37	6	53370601	53370601	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53370601C>A	ENST00000229416.6	-	11	1773	c.1290G>T	c.(1288-1290)gaG>gaT	p.E430D	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	430					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TGTGTCTTACCTCCATGGGTC	0.423																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e11+1		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						134.0	120.0	125.0					6																	53370601		2203	4300	6503	SO:0001630	splice_region_variant	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53370601C>A	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1290+1G>T	6.37:g.53370601C>A						RP1-27K12.4_ENST00000508884.1_RNA	p.E430_splice	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			11	1773	-	Lung NSC(77;0.0137)		430					Q14399	Splice_Site	SNP	ENST00000229416.6	37	c.1290_splice	CCDS4952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.088170|4.088170	0.76642|0.76642	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000229416|ENST00000514373	T|.	0.51325|.	0.71|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66247|0.66247	0.2770|0.2770	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	B|.	0.31503|.	0.326|.	B|.	0.32211|.	0.142|.	T|T	0.60929|0.60929	-0.7165|-0.7165	9|5	.|.	.|.	.|.	.|.	20.0627|20.0627	0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	430|.	P48506|.	GSH1_HUMAN|.	D|M	430|32	ENSP00000229416:E430D|.	.|.	E|R	-|-	3|2	2|0	GCLC|GCLC	53478560|53478560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.776000|7.776000	0.85560|0.85560	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GAG|AGG		0.423	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2		Missense_Mutation	14	370	1	0	2.32078e-09	1	2.442e-09	14	370				
TIPARP	25976	broad.mit.edu	37	3	156413716	156413716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156413716G>A	ENST00000461166.1	+	4	1737	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I|TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	383	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATTTATGATGTGGAATAACC	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1147-1149)atG>atA		TCDD-inducible poly(ADP-ribose) polymerase							105.0	111.0	109.0					3																	156413716		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156413716G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1149G>A	3.37:g.156413716G>A	ENSP00000420612:p.Met383Ile					TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I|TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I	p.M383I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		4	1737	+			383			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1149G>A	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.581|9.581	1.123516|1.123516	0.20959|0.20959	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86;1.86|.	5.47|5.47	5.47|5.47	0.80525|0.80525	WWE domain (1);|.	0.043555|.	0.85682|.	D|.	0.000000|.	T|T	0.30448|0.30448	0.0765|0.0765	N|N	0.22421|0.22421	0.69|0.69	0.31574|0.31574	N|N	0.655986|0.655986	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.49607|.	T|.	0.09|.	.|.	6.1501|6.1501	0.20306|0.20306	0.1552:0.1617:0.6831:0.0|0.1552:0.1617:0.6831:0.0	.|.	383|.	Q7Z3E1|.	PARPT_HUMAN|.	I|M	383|86	ENSP00000418757:M383I;ENSP00000295924:M383I;ENSP00000420612:M383I;ENSP00000419982:M383I;ENSP00000418829:M383I;ENSP00000438345:M383I|.	ENSP00000295924:M383I|.	M|V	+|+	3|1	0|0	TIPARP|TIPARP	157896410|157896410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.996000|0.996000	0.29719|0.29719	2.579000|2.579000	0.87056|0.87056	0.460000|0.460000	0.39030|0.39030	ATG|GTG		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		100	393	0	0	0	1	0	100	393				
ZNF235	9310	broad.mit.edu	37	19	44791924	44791924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44791924C>A	ENST00000291182.4	-	5	1766	c.1664G>T	c.(1663-1665)aGc>aTc	p.S555I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AAGATTCAAGCTCCAATTGAA	0.443																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1663-1665)aGc>aTc		zinc finger protein 235							88.0	83.0	84.0					19																	44791924		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44791924C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1664G>T	19.37:g.44791924C>A	ENSP00000291182:p.Ser555Ile					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.S555I	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	1766	-		Prostate(69;0.0352)|all_neural(266;0.116)	555					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1664G>T	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339720	0.41398	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.37058	1.22	5.04	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000106	T	0.48874	0.1524	M	0.76170	2.325	0.09310	N	0.999994	D;D	0.89917	0.999;1.0	D;D	0.67725	0.953;0.916	T	0.39354	-0.9618	10	0.51188	T	0.08	.	1.762	0.02994	0.1678:0.4886:0.1625:0.1811	.	551;555	Q14590-2;Q14590	.;ZN235_HUMAN	I	555;555;447	ENSP00000291182:S555I	ENSP00000291182:S555I	S	-	2	0	ZNF235	49483764	0.000000	0.05858	0.994000	0.49952	0.919000	0.55068	0.015000	0.13355	1.253000	0.44018	0.462000	0.41574	AGC		0.443	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			83	339	1	0	3.30373e-36	1	3.95205e-36	83	339				
DNAJA2	10294	broad.mit.edu	37	16	47001552	47001552	+	Silent	SNP	G	G	A	rs575291050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47001552G>A	ENST00000317089.5	-	5	665	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	150					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CAGACTTTCCGCCTTGGCTAA	0.463																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(448-450)ggC>ggT		DnaJ (Hsp40) homolog, subfamily A, member 2							198.0	159.0	172.0					16																	47001552		2203	4300	6503	SO:0001819	synonymous_variant	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:47001552G>A	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.450C>T	16.37:g.47001552G>A							p.G150G	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			5	665	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	150					B2R7L7|O14711	Silent	SNP	ENST00000317089.5	37	c.450C>T	CCDS10726.1																																																																																				0.463	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			130	544	0	0	0	1	0	130	544				
THNSL2	55258	broad.mit.edu	37	2	88482594	88482594	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88482594T>G	ENST00000324166.5	+	6	2768		c.e6+2		THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000449349.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)						2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CACAGCAAGGTCAGTCACTAC	0.527																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.e6+2		threonine synthase-like 2 (S. cerevisiae)							76.0	69.0	71.0					2																	88482594		2203	4300	6503	SO:0001630	splice_region_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88482594T>G		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1077+2T>G	2.37:g.88482594T>G						THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Splice_Site		NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			6	2768	+								B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Splice_Site	SNP	ENST00000324166.5	37		CCDS2002.2	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319031	0.41096	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2669	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	THNSL2	88263709	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	6.965000	0.76067	2.210000	0.71456	0.459000	0.35465	.		0.527	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271	Intron	43	166	0	0	0	1	0	43	166				
SYNPO	11346	broad.mit.edu	37	5	150028766	150028766	+	Missense_Mutation	SNP	G	G	A	rs35729008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150028766G>A	ENST00000394243.1	+	3	2035	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R310H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	554					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAGAGACGCCCCTTGGGG	0.617																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(1660-1662)cGc>cAc		synaptopodin							47.0	55.0	52.0					5																	150028766		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028766G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1661G>A	5.37:g.150028766G>A	ENSP00000377789:p.Arg554His					SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R310H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H	p.R554H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2035	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	554					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.1661G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053652	0.36277	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.26810	1.73;1.73;1.71	5.18	4.31	0.51392	.	0.116138	0.39407	N	0.001380	T	0.33352	0.0860	L	0.32530	0.975	0.32458	N	0.544542	B;D	0.76494	0.004;0.999	B;D	0.65233	0.004;0.933	T	0.40040	-0.9584	10	0.44086	T	0.13	-10.0133	8.5346	0.33355	0.0833:0.1537:0.763:0.0	.	310;554	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	H	554;554;310;310	ENSP00000377789:R554H;ENSP00000428378:R554H;ENSP00000429268:R310H	ENSP00000302139:R310H	R	+	2	0	SYNPO	150008959	0.990000	0.36364	0.998000	0.56505	0.252000	0.25951	2.217000	0.42880	1.182000	0.42928	-0.258000	0.10820	CGC		0.617	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		9	316	0	0	0	1	0	9	316				
ACAA1	30	broad.mit.edu	37	3	38175489	38175489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38175489G>A	ENST00000333167.8	-	3	449	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	93					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCCCCAGGCTGCAGCACATTT	0.512																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(277-279)Cag>Tag		acetyl-CoA acyltransferase 1							64.0	66.0	65.0					3																	38175489		2203	4300	6503	SO:0001587	stop_gained	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38175489G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.277C>T	3.37:g.38175489G>A	ENSP00000333664:p.Gln93*					ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*	p.Q93*	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	3	449	-			93					G5E935|Q96CA6	Nonsense_Mutation	SNP	ENST00000333167.8	37	c.277C>T	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	37	6.620698	0.97709	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607	.	.	.	5.58	5.58	0.84498	.	0.128735	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-11.4369	19.5262	0.95208	0.0:0.0:1.0:0.0	.	.	.	.	X	93;93;93;25;93	.	ENSP00000301810:Q93X	Q	-	1	0	ACAA1	38150493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.327000	0.79147	2.778000	0.95560	0.655000	0.94253	CAG		0.512	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		61	230	0	0	0	1	0	61	230				
TRAK1	22906	broad.mit.edu	37	3	42236404	42236404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42236404C>T	ENST00000327628.5	+	10	1484	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C|TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C|TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	362	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACGTCTCGGCGCTACCACTC	0.572																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1084-1086)Cgc>Tgc		trafficking protein, kinesin binding 1							119.0	86.0	97.0					3																	42236404		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42236404C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1084C>T	3.37:g.42236404C>T	ENSP00000328998:p.Arg362Cys					TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C	p.R362C	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			10	1484	+			362			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.1084C>T	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879276	0.91740	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.15834	2.95;2.98;2.96;2.97;2.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.74258	2.255	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;P;P	0.79108	0.959;0.959;0.973;0.992;0.871;0.871	T	0.08126	-1.0737	10	0.42905	T	0.14	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	288;304;362;304;288;362	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	C	362;362;288;304;304;80	ENSP00000328998:R362C;ENSP00000410717:R288C;ENSP00000379478:R304C;ENSP00000340702:R304C;ENSP00000413729:R80C	ENSP00000328998:R362C	R	+	1	0	TRAK1	42211408	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.869000	0.69613	2.882000	0.98803	0.655000	0.94253	CGC		0.572	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		25	84	0	0	0	1	0	25	84				
TMC5	79838	broad.mit.edu	37	16	19483470	19483470	+	Missense_Mutation	SNP	C	C	T	rs142693954		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19483470C>T	ENST00000396229.2	+	11	2592	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	TMC5_ENST00000561503.1_Missense_Mutation_p.R256C|TMC5_ENST00000542583.2_Missense_Mutation_p.R615C|TMC5_ENST00000381414.4_Missense_Mutation_p.R615C|TMC5_ENST00000564959.1_Missense_Mutation_p.R298C|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.R369C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	615					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						GCTGCTGACCCGCTTCTCTGC	0.498																																						ENST00000396229.2																			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.(1843-1845)Cgc>Tgc		transmembrane channel-like 5		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4394		0,0,2197	125.0	105.0	112.0		1843,1843,1105	5.8	0.7	16	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TMC5	NM_001105248.1,NM_001105249.1,NM_024780.4	180,180,180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	615/1007,615/949,369/761	19483470	1,12993	2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19483470C>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.1843C>T	16.37:g.19483470C>T	ENSP00000379531:p.Arg615Cys					TMC5_ENST00000541464.1_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.R369C|TMC5_ENST00000381414.4_Missense_Mutation_p.R615C|TMC5_ENST00000564959.1_Missense_Mutation_p.R298C|TMC5_ENST00000561503.1_Missense_Mutation_p.R256C|TMC5_ENST00000542583.2_Missense_Mutation_p.R615C	p.R615C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			11	2592	+			615					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.1843C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927650	0.34002	0.0	1.16E-4	ENSG00000103534	ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.78	5.78	0.91487	.	0.351915	0.33401	N	0.004956	T	0.50565	0.1623	M	0.71581	2.175	0.20975	N	0.999813	B;B;B;B;B	0.31351	0.056;0.32;0.214;0.106;0.171	B;B;B;B;B	0.27608	0.022;0.081;0.037;0.015;0.034	T	0.50866	-0.8777	10	0.51188	T	0.08	-4.4501	18.8356	0.92161	0.0:1.0:0.0:0.0	.	298;369;369;615;615	E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;TMC5_HUMAN;.	C	615;615;615;369;298	ENSP00000370822:R615C;ENSP00000379531:R615C;ENSP00000446274:R615C;ENSP00000219821:R369C	ENSP00000219821:R369C	R	+	1	0	TMC5	19390971	0.098000	0.21812	0.721000	0.30653	0.034000	0.12701	4.026000	0.57232	2.737000	0.93849	0.650000	0.86243	CGC		0.498	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		9	598	0	0	0	1	0	9	598				
UGT2B4	7363	broad.mit.edu	37	4	70360997	70360997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70360997G>A	ENST00000305107.6	-	1	629	c.583C>T	c.(583-585)Cct>Tct	p.P195S	UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	195					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ATAACAACAGGCACATAGGAA	0.388																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(583-585)Cct>Tct		UDP glucuronosyltransferase 2 family, polypeptide B4							74.0	72.0	73.0					4																	70360997		2191	4298	6489	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70360997G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.583C>T	4.37:g.70360997G>A	ENSP00000305221:p.Pro195Ser					UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S	p.P195S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	629	-			195					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.583C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209295	0.58343	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.62941	-0.01;-0.01;2.95	2.4	2.4	0.29515	.	0.000000	0.64402	U	0.000007	D	0.83166	0.5195	H	0.96269	3.795	0.35731	D	0.817919	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.994;0.987;1.0	D	0.89039	0.3447	10	0.87932	D	0	.	10.537	0.45009	0.0:0.0:1.0:0.0	.	59;195;195	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	S	195;195;59	ENSP00000421290:P195S;ENSP00000305221:P195S;ENSP00000370486:P59S	ENSP00000305221:P195S	P	-	1	0	UGT2B4	70395586	1.000000	0.71417	0.029000	0.17559	0.018000	0.09664	6.735000	0.74806	1.338000	0.45544	0.298000	0.19748	CCT		0.388	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		44	272	0	0	0	1	0	44	272				
GIMAP4	55303	broad.mit.edu	37	7	150270098	150270098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150270098G>A	ENST00000255945.2	+	3	1115	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	314						cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATCATGACAGCGTTACAGAT	0.408																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(940-942)Gcg>Acg		GTPase, IMAP family member 4							136.0	117.0	123.0					7																	150270098		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150270098G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.940G>A	7.37:g.150270098G>A	ENSP00000255945:p.Ala314Thr					GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	p.A314T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1115	+			314						Missense_Mutation	SNP	ENST00000255945.2	37	c.940G>A	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136903	0.21123	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.05855	3.41;3.38	4.82	-4.67	0.03319	.	3.210380	0.00977	N	0.003336	T	0.05456	0.0144	L	0.53249	1.67	0.09310	N	1	B;B	0.17465	0.021;0.022	B;B	0.15484	0.013;0.008	T	0.37979	-0.9682	10	0.11794	T	0.64	.	0.1662	0.00108	0.305:0.229:0.233:0.2329	.	328;314	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	T	314;328;246	ENSP00000255945:A314T;ENSP00000419545:A328T	ENSP00000255945:A314T	A	+	1	0	GIMAP4	149901031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.027000	0.03592	-0.930000	0.03752	-0.169000	0.13324	GCG		0.408	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		16	352	0	0	0	1	0	16	352				
ZNRF3	84133	broad.mit.edu	37	22	29446426	29446426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446426G>A	ENST00000544604.2	+	8	2432	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	753					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCCCAGTCAGGAAGCTCCCA	0.657																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2257-2259)Gga>Aga		zinc and ring finger 3							13.0	15.0	14.0					22																	29446426		1851	4004	5855	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446426G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2257G>A	22.37:g.29446426G>A	ENSP00000443824:p.Gly753Arg					ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R	p.G753R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	2432	+			753					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.2257G>A	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664858	0.29604	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.07	4.05	0.47172	.	0.507057	0.20123	N	0.098748	T	0.80649	0.4663	L	0.51422	1.61	0.20489	N	0.999896	D	0.61697	0.99	P	0.58780	0.845	T	0.71497	-0.4575	10	0.87932	D	0	-6.7721	9.2661	0.37641	0.1644:0.0:0.8356:0.0	.	753	Q9ULT6	ZNRF3_HUMAN	R	753;653;460;653;653	ENSP00000443824:G753R;ENSP00000328614:G653R;ENSP00000384456:G653R;ENSP00000384553:G653R	ENSP00000328614:G653R	G	+	1	0	ZNRF3	27776426	0.999000	0.42202	0.053000	0.19242	0.075000	0.17131	3.091000	0.50199	1.267000	0.44247	0.655000	0.94253	GGA		0.657	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		48	168	0	0	0	1	0	48	168				
KMT2C	58508	broad.mit.edu	37	7	151962253	151962253	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151962253C>A	ENST00000262189.6	-	8	1272	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D352Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	352					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTAAGAGGTCTCCCGGGCTG	0.398																																						ENST00000355193.2																			0											c.(1054-1056)Gac>Tac		lysine (K)-specific methyltransferase 2C							165.0	151.0	156.0					7																	151962253		2203	4296	6499	SO:0001583	missense	58508							g.chr7:151962253C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1054G>T	7.37:g.151962253C>A	ENSP00000262189:p.Asp352Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.D352Y	p.D352Y							8	1272	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1054G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045980	0.36085	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99005	-5.32;-5.32	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43579	U	0.000542	D	0.99348	0.9771	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98903	1.0777	10	0.72032	D	0.01	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	352	Q8NEZ4	MLL3_HUMAN	Y	352	ENSP00000262189:D352Y;ENSP00000347325:D352Y	ENSP00000262189:D352Y	D	-	1	0	MLL3	151593186	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	GAC		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			20	1112	1	0	2.48551e-13	1	2.68178e-13	20	1112				
NOMO1	23420	broad.mit.edu	37	16	14989432	14989432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14989432C>T	ENST00000287667.7	+	31	3770	c.3599C>T	c.(3598-3600)gCa>gTa	p.A1200V		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1200						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCGGCCAGGCAGCCTCTGAC	0.542																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3598-3600)gCa>gTa		NODAL modulator 1							253.0	319.0	297.0					16																	14989432		2193	4298	6491	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14989432C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3599C>T	16.37:g.14989432C>T	ENSP00000287667:p.Ala1200Val						p.A1200V	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			31	3770	+			1200					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3599C>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303128	0.40795	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.54479	0.57	2.99	2.99	0.34606	.	0.210335	0.41605	D	0.000860	T	0.45316	0.1336	L	0.50333	1.59	0.46376	D	0.999016	B	0.02656	0.0	B	0.04013	0.001	T	0.48790	-0.9004	10	0.48119	T	0.1	-1.1936	11.8153	0.52207	0.0:1.0:0.0:0.0	.	1200	Q15155	NOMO1_HUMAN	V	1200;1200;1033	ENSP00000287667:A1200V	ENSP00000287667:A1200V	A	+	2	0	NOMO1	14896933	0.998000	0.40836	0.998000	0.56505	0.569000	0.35902	3.900000	0.56295	1.681000	0.50988	0.384000	0.25694	GCA		0.542	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			271	2938	0	0	0	1	0	271	2938				
COPA	1314	broad.mit.edu	37	1	160261125	160261125	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160261125C>A	ENST00000241704.7	-	31	3649	c.3420G>T	c.(3418-3420)caG>caT	p.Q1140H	COPA_ENST00000368069.3_Splice_Site_p.Q1149H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1140					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCATCTACCTGTTGGGCCA	0.517											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.e31+1		coatomer protein complex, subunit alpha							97.0	97.0	97.0					1																	160261125		2203	4300	6503	SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261125C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3420+1G>T	1.37:g.160261125C>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Splice_Site_p.Q1149_splice	p.Q1140_splice	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		31	3649	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1140					Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	37	c.3420_splice	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551477	0.86127	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.48836	0.8;0.8	5.96	5.96	0.96718	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.92219	3.285	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64042	0.871;0.921	T	0.77749	-0.2471	9	.	.	.	-19.816	18.983	0.92761	0.0:1.0:0.0:0.0	.	1140;1149	P53621;P53621-2	COPA_HUMAN;.	H	1149;1140	ENSP00000357048:Q1149H;ENSP00000241704:Q1140H	.	Q	-	3	2	COPA	158527749	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.120000	0.77153	2.831000	0.97527	0.650000	0.86243	CAG		0.517	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Missense_Mutation	161	440	1	0	5.63857e-76	1	7.19304e-76	161	440				
LMTK2	22853	broad.mit.edu	37	7	97832996	97832996	+	Silent	SNP	C	C	T	rs188760642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97832996C>T	ENST00000297293.5	+	12	4511	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1406					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCATCAACTCCGAAAGCTCCA	0.532													C|||	3	0.000599042	0.0	0.0	5008	,	,		18129	0.002		0.001	False		,,,				2504	0.0					ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4216-4218)tcC>tcT		lemur tyrosine kinase 2		C		0,4406		0,0,2203	42.0	35.0	37.0		4218	-11.6	0.0	7		37	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LMTK2	NM_014916.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1406/1504	97832996	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97832996C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4218C>T	7.37:g.97832996C>T							p.S1406S	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			12	4511	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1406					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.4218C>T	CCDS5654.1																																																																																				0.532	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	206	0	0	0	1	0	7	206				
HERC2	8924	broad.mit.edu	37	15	28360609	28360609	+	Missense_Mutation	SNP	G	G	T	rs28548731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28360609G>T	ENST00000261609.7	-	89	13796	c.13688C>A	c.(13687-13689)gCt>gAt	p.A4563D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTCATCCCAGCCAGCTGCTT	0.612																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(13687-13689)gCt>gAt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							65.0	57.0	60.0					15																	28360609		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28360609G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13688C>A	15.37:g.28360609G>T	ENSP00000261609:p.Ala4563Asp						p.A4563D	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	89	13796	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4563			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.13688C>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687309	0.96784	.	.	ENSG00000128731	ENST00000261609	T	0.58506	0.33	5.56	5.56	0.83823	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72982	0.979;0.972	T	0.81004	-0.1129	10	0.87932	D	0	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	4563;252	O95714;Q8ND39	HERC2_HUMAN;.	D	4563	ENSP00000261609:A4563D	ENSP00000261609:A4563D	A	-	2	0	HERC2	26034204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.601000	0.87937	0.655000	0.94253	GCT		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		35	161	1	0	1.49673e-21	1	1.68722e-21	35	161				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100394	27100394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27100394G>T	ENST00000607124.1	-	1	135	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	46					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						ACCTGCTTCAGAACCTTGTAC	0.537																																						ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(136-138)Ctg>Atg		histone cluster 1, H2bj							215.0	204.0	208.0					6																	27100394		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100394G>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.136C>A	6.37:g.27100394G>T	ENSP00000476136:p.Leu46Met					HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M	p.L46M			P06899	H2B1J_HUMAN			1	135	-			46					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.136C>A	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989555	0.35131	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70516	-0.49;-0.49	4.17	2.38	0.29361	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.79112	0.4391	M	0.92219	3.285	0.42303	D	0.992184	P	0.49783	0.928	P	0.59761	0.863	T	0.80948	-0.1154	9	0.72032	D	0.01	.	8.9091	0.35541	0.1917:0.0:0.8083:0.0	.	46	P06899	H2B1J_HUMAN	M	46	ENSP00000445633:L46M;ENSP00000342886:L46M	ENSP00000342886:L46M	L	-	1	2	HIST1H2BJ	27208373	1.000000	0.71417	0.995000	0.50966	0.078000	0.17371	1.451000	0.35145	0.506000	0.28125	-0.914000	0.02751	CTG		0.537	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		190	973	1	0	1.59857e-72	1	2.0336e-72	190	973				
GRWD1	83743	broad.mit.edu	37	19	48953707	48953707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953707C>T	ENST00000253237.5	+	4	839	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	202						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ATGAGCAGGCCCAAATGAAGC	0.657																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(604-606)gcC>gcT		glutamate-rich WD repeat containing 1							70.0	73.0	72.0					19																	48953707		2203	4300	6503	SO:0001819	synonymous_variant	83743					nucleolus		g.chr19:48953707C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.606C>T	19.37:g.48953707C>T							p.A202A	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	4	839	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	202					Q8TF59	Silent	SNP	ENST00000253237.5	37	c.606C>T	CCDS12720.1																																																																																				0.657	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		84	405	0	0	0	1	0	84	405				
HIP1	3092	broad.mit.edu	37	7	75182880	75182880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75182880C>T	ENST00000336926.6	-	22	2193	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	HIP1_ENST00000434438.2_Missense_Mutation_p.E723K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	723					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTACAGGCCTCGGTCAGTGCT	0.562			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2167-2169)Gag>Aag		huntingtin interacting protein 1							68.0	57.0	60.0					7																	75182880		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75182880C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2167G>A	7.37:g.75182880C>T	ENSP00000336747:p.Glu723Lys					HIP1_ENST00000434438.2_Missense_Mutation_p.E723K	p.E723K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			22	2193	-			723					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2167G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.392104	0.42410	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.72;2.49	5.17	4.3	0.51218	.	0.349867	0.36374	N	0.002631	T	0.13243	0.0321	L	0.51422	1.61	0.80722	D	1	B;B	0.15141	0.012;0.004	B;B	0.09377	0.004;0.004	T	0.05053	-1.0909	10	0.30078	T	0.28	-15.5609	10.8155	0.46573	0.0:0.9123:0.0:0.0877	.	723;723	E7ES17;O00291	.;HIP1_HUMAN	K	723	ENSP00000336747:E723K;ENSP00000410300:E723K	ENSP00000336747:E723K	E	-	1	0	HIP1	75020816	0.999000	0.42202	0.873000	0.34254	0.553000	0.35397	5.389000	0.66255	1.419000	0.47118	0.650000	0.86243	GAG		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		48	211	0	0	0	1	0	48	211				
KRT1	3848	broad.mit.edu	37	12	53069496	53069496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53069496A>G	ENST00000252244.3	-	8	1566	c.1508T>C	c.(1507-1509)gTg>gCg	p.V503A		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	503	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTACTTACACACACTCACGTT	0.498																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1507-1509)gTg>gCg		keratin 1							119.0	104.0	109.0					12																	53069496		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069496A>G	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1508T>C	12.37:g.53069496A>G	ENSP00000252244:p.Val503Ala						p.V503A	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			8	1566	-			503			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.1508T>C	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887959	0.33348	.	.	ENSG00000167768	ENST00000252244	D	0.86030	-2.06	4.55	4.55	0.56014	.	.	.	.	.	T	0.74183	0.3683	N	0.14661	0.345	0.09310	N	1	P	0.34662	0.462	B	0.33960	0.173	T	0.68284	-0.5449	9	0.87932	D	0	.	10.6929	0.45882	0.8572:0.0:0.0:0.1428	.	503	P04264	K2C1_HUMAN	A	503	ENSP00000252244:V503A	ENSP00000252244:V503A	V	-	2	0	KRT1	51355763	0.968000	0.33430	0.754000	0.31244	0.440000	0.31957	3.630000	0.54273	1.812000	0.52913	0.379000	0.24179	GTG		0.498	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		91	442	0	0	0	1	0	91	442				
ECM1	1893	broad.mit.edu	37	1	150485713	150485713	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150485713A>C	ENST00000369047.4	+	10	1518	c.1393A>C	c.(1393-1395)Aaa>Caa	p.K465Q	ECM1_ENST00000369049.4_Splice_Site_p.K492Q|LINC00568_ENST00000416894.1_lincRNA|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Splice_Site_p.K340Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	465					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTCATCAGAAATTAACCTT	0.493																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.e10-1		extracellular matrix protein 1							115.0	114.0	114.0					1																	150485713		2203	4300	6503	SO:0001630	splice_region_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150485713A>C	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1393-1A>C	1.37:g.150485713A>C						ECM1_ENST00000369049.4_Splice_Site_p.K492_splice|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Splice_Site_p.K340_splice	p.K465_splice	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1518	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		465					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Splice_Site	SNP	ENST00000369047.4	37	c.1392_splice	CCDS953.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674109	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.80653	-1.4;-1.4;-1.4	4.85	4.85	0.62838	.	0.464588	0.22030	N	0.065614	T	0.81148	0.4762	L	0.56769	1.78	0.32759	N	0.505366	D;D;D	0.71674	0.994;0.998;0.987	P;D;P	0.65987	0.869;0.94;0.783	T	0.80763	-0.1237	9	.	.	.	-7.8259	10.7452	0.46177	1.0:0.0:0.0:0.0	.	492;340;465	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	Q	492;465;340	ENSP00000358045:K492Q;ENSP00000358043:K465Q;ENSP00000271630:K340Q	.	K	+	1	0	ECM1	148752337	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	3.947000	0.56652	2.026000	0.59711	0.460000	0.39030	AAA		0.493	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425	Missense_Mutation	104	274	0	0	0	1	0	104	274				
CABLES1	91768	broad.mit.edu	37	18	20815979	20815979	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20815979G>T	ENST00000256925.7	+	6	1306	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	436	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTCCATAGGCCGGGCAAG	0.597																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(1306-1308)Ggc>Tgc		Cdk5 and Abl enzyme substrate 1							59.0	66.0	64.0					18																	20815979		1918	4119	6037	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20815979G>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1306G>T	18.37:g.20815979G>T	ENSP00000256925:p.Gly436Cys					CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|TMEM241_ENST00000450466.2_Intron	p.G436C	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			6	1306	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		436			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.1306G>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682669	0.88542	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.46819	0.92;0.86;0.9	4.94	4.94	0.65067	.	0.099785	0.64402	D	0.000002	T	0.63698	0.2533	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.76575	0.823;0.988	T	0.65455	-0.6164	10	0.62326	D	0.03	-14.8556	18.3672	0.90396	0.0:0.0:1.0:0.0	.	171;436	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	C	109;436;171	ENSP00000383321:G109C;ENSP00000256925:G436C;ENSP00000413851:G171C	ENSP00000256925:G436C	G	+	1	0	CABLES1	19069977	1.000000	0.71417	0.423000	0.26634	0.849000	0.48306	9.386000	0.97228	2.571000	0.86741	0.655000	0.94253	GGC		0.597	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		18	632	1	0	4.35082e-09	1	4.56966e-09	18	632				
COL9A1	1297	broad.mit.edu	37	6	70972947	70972947	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70972947T>C	ENST00000357250.6	-	19	1553	c.1395A>G	c.(1393-1395)ccA>ccG	p.P465P	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Splice_Site_p.P222P|COL9A1_ENST00000320755.7_Splice_Site_p.P222P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	465	Collagen-like 4.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						aataCTTTACTGGAGGTCCTT	0.318																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.e19+1		collagen, type IX, alpha 1							33.0	35.0	34.0					6																	70972947		2203	4299	6502	SO:0001630	splice_region_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70972947T>C		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1395+1A>G	6.37:g.70972947T>C						COL9A1_ENST00000320755.7_Splice_Site_p.P222_splice|COL9A1_ENST00000370499.4_Splice_Site_p.P222_splice|COL9A1_ENST00000489611.1_5'UTR	p.P465_splice	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			19	1553	-			465			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Splice_Site	SNP	ENST00000357250.6	37	c.1395_splice	CCDS4971.1																																																																																				0.318	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		Silent	27	113	0	0	0	1	0	27	113				
MYO15A	51168	broad.mit.edu	37	17	18025224	18025224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025224A>G	ENST00000205890.5	+	2	3448	c.3110A>G	c.(3109-3111)gAt>gGt	p.D1037G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1037					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCCAAGGATGTCACTCCC	0.612																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3109-3111)gAt>gGt		myosin XVA							73.0	79.0	77.0					17																	18025224		1963	4151	6114	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025224A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3110A>G	17.37:g.18025224A>G	ENSP00000205890:p.Asp1037Gly						p.D1037G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3448	+	all_neural(463;0.228)		1037			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3110A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	5.810	0.333662	0.11013	.	.	ENSG00000091536	ENST00000205890	D	0.87334	-2.24	0.717	-1.43	0.08884	.	.	.	.	.	T	0.66336	0.2779	N	0.08118	0	0.09310	N	1	B	0.28850	0.225	B	0.15870	0.014	T	0.55418	-0.8144	9	0.32370	T	0.25	.	2.8426	0.05534	0.5027:0.4973:0.0:0.0	.	1037	Q9UKN7	MYO15_HUMAN	G	1037	ENSP00000205890:D1037G	ENSP00000205890:D1037G	D	+	2	0	MYO15A	17965949	0.008000	0.16893	0.066000	0.19879	0.076000	0.17211	0.332000	0.19751	0.077000	0.16863	0.076000	0.15429	GAT		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		160	531	0	0	0	1	0	160	531				
AGO1	26523	broad.mit.edu	37	1	36359359	36359359	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36359359C>T	ENST00000373204.4	+	5	810	c.597C>T	c.(595-597)ggC>ggT	p.G199G	AGO1_ENST00000373206.1_Silent_p.G124G	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	199					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCTGGTTCGGCTTTCACCAGT	0.632																																						ENST00000373204.4																			0											c.(595-597)ggC>ggT		argonaute RISC catalytic component 1							67.0	65.0	66.0					1																	36359359		2203	4300	6503	SO:0001819	synonymous_variant	26523							g.chr1:36359359C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.597C>T	1.37:g.36359359C>T						AGO1_ENST00000373206.1_Silent_p.G124G	p.G199G	NM_012199.2	NP_036331.1					5	810	+								Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.597C>T	CCDS398.1																																																																																				0.632	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			30	308	0	0	0	1	0	30	308				
CR1L	1379	broad.mit.edu	37	1	207891028	207891028	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207891028T>G	ENST00000508064.2	+	11	1694	c.1634T>G	c.(1633-1635)gTt>gGt	p.V545G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	545						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAACTTCCTGTTGGTGCTGGT	0.488																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1633-1635)gTt>gGt		complement component (3b/4b) receptor 1-like							116.0	117.0	116.0					1																	207891028		1980	4142	6122	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207891028T>G	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1634T>G	1.37:g.207891028T>G	ENSP00000421736:p.Val545Gly						p.V545G	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			11	1694	+			545					Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1634T>G	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	T	6.211	0.407155	0.11754	.	.	ENSG00000197721	ENST00000508064	T	0.35236	1.32	2.69	-4.61	0.03380	.	.	.	.	.	T	0.12433	0.0302	N	0.04636	-0.2	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	9	0.15499	T	0.54	.	5.2491	0.15512	0.0:0.4568:0.242:0.3012	.	545	Q2VPA4	CR1L_HUMAN	G	545	ENSP00000421736:V545G	ENSP00000421736:V545G	V	+	2	0	CR1L	205957651	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.570000	0.05895	-0.593000	0.05844	-0.756000	0.03474	GTT		0.488	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		10	574	0	0	0	1	0	10	574				
FUT11	170384	broad.mit.edu	37	10	75532151	75532151	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75532151A>G	ENST00000372841.3	+	1	103	c.60A>G	c.(58-60)gcA>gcG	p.A20A	RMRPP1_ENST00000517236.1_RNA|AC022400.2_ENST00000595757.1_Silent_p.A76A|FUT11_ENST00000394790.1_Silent_p.A20A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	20					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GTGTCTGTGCAGCCAGCGGCC	0.731																																						ENST00000372841.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(58-60)gcA>gcG		fucosyltransferase 11 (alpha (1,3) fucosyltransferase)							22.0	23.0	23.0					10																	75532151		2197	4294	6491	SO:0001819	synonymous_variant	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75532151A>G	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.60A>G	10.37:g.75532151A>G						AC022400.2_ENST00000595757.1_Silent_p.A76A|FUT11_ENST00000394790.1_Silent_p.A20A	p.A20A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN			1	103	+	Prostate(51;0.0112)		20					Q495W7|Q8IYE4	Silent	SNP	ENST00000372841.3	37	c.60A>G	CCDS7333.1																																																																																				0.731	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		16	76	0	0	0	1	0	16	76				
VPS37A	137492	broad.mit.edu	37	8	17132303	17132303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132303C>T	ENST00000324849.4	+	5	1152	c.478C>T	c.(478-480)Cca>Tca	p.P160S	VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F|VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	160					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ATTTCTTCCTCCATATCCTCC	0.403																																						ENST00000324849.4																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(478-480)Cca>Tca		vacuolar protein sorting 37 homolog A (S. cerevisiae)							100.0	86.0	91.0					8																	17132303		2203	4300	6503	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17132303C>T		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.478C>T	8.37:g.17132303C>T	ENSP00000318629:p.Pro160Ser					VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F|VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S	p.P160S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	5	1152	+			160					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	c.478C>T	CCDS6001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.086205|2.086205	0.36855|0.36855	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.56611|.	0.45;0.5|.	4.25|4.25	0.217|0.217	0.15264|0.15264	.|.	0.637270|.	0.16206|.	N|.	0.224693|.	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.15975|0.15975	0.35|0.35	0.24058|0.24058	N|N	0.996027|0.996027	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.0|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|6	0.16896|0.87932	T|D	0.51|0	-1.0447|-1.0447	7.02|7.02	0.24908|0.24908	0.0:0.6541:0.1255:0.2204|0.0:0.6541:0.1255:0.2204	.|.	135;160|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|F	160;135|169	ENSP00000318629:P160S;ENSP00000429680:P135S|.	ENSP00000318629:P160S|ENSP00000318173:S169F	P|S	+|+	1|2	0|0	VPS37A|VPS37A	17176674|17176674	0.965000|0.965000	0.33210|0.33210	0.797000|0.797000	0.32132|0.32132	0.721000|0.721000	0.41392|0.41392	-0.000000|-0.000000	0.12993|0.12993	0.028000|0.028000	0.15324|0.15324	0.579000|0.579000	0.79373|0.79373	CCA|TCC		0.403	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		59	279	0	0	0	1	0	59	279				
DNAH10	196385	broad.mit.edu	37	12	124383316	124383316	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124383316G>A	ENST00000409039.3	+	55	9266	c.9241G>A	c.(9241-9243)Gcc>Acc	p.A3081T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3081	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGTCCGCCGCCTGCGAGGC	0.647																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9241-9243)Gcc>Acc		dynein, axonemal, heavy chain 10							20.0	25.0	24.0					12																	124383316		2001	4172	6173	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124383316G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9241G>A	12.37:g.124383316G>A	ENSP00000386770:p.Ala3081Thr						p.A3081T	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	55	9266	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3081			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9241G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164423	0.57476	.	.	ENSG00000197653	ENST00000409039	T	0.74421	-0.84	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.064020	0.64402	D	0.000006	D	0.85656	0.5747	M	0.89785	3.06	0.54753	D	0.99998	D	0.65815	0.995	P	0.55667	0.781	D	0.87201	0.2241	10	0.37606	T	0.19	.	17.4778	0.87664	0.0:0.0:1.0:0.0	.	3081	Q8IVF4	DYH10_HUMAN	T	3081	ENSP00000386770:A3081T	ENSP00000386770:A3081T	A	+	1	0	DNAH10	122949269	1.000000	0.71417	0.934000	0.37439	0.142000	0.21351	7.803000	0.85983	2.350000	0.79820	0.462000	0.41574	GCC		0.647	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			29	103	0	0	0	1	0	29	103				
ZNF394	84124	broad.mit.edu	37	7	99097579	99097579	+	Silent	SNP	G	G	A	rs142631169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99097579G>A	ENST00000337673.6	-	1	341	c.138C>T	c.(136-138)ccC>ccT	p.P46P	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	46					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCAACTTCCGGGTGAGTCTT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18302	0.0		0.001	False		,,,				2504	0.0				Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(136-138)ccC>ccT		zinc finger protein 394							51.0	52.0	52.0					7																	99097579		2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097579G>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.138C>T	7.37:g.99097579G>A						ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_Intron	p.P46P	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			1	341	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		46					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.138C>T	CCDS5666.1																																																																																				0.637	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		70	320	0	0	0	1	0	70	320				
AGAP3	116988	broad.mit.edu	37	7	150839253	150839253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150839253C>T	ENST00000463381.1	+	13	1466	c.970C>T	c.(970-972)Cga>Tga	p.R324*	AGAP3_ENST00000397238.2_Nonsense_Mutation_p.R655*	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	619	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGACAGACTCGACTGGGGAA	0.627																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1963-1965)Cga>Tga		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							141.0	150.0	147.0					7																	150839253		2086	4212	6298	SO:0001587	stop_gained	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839253C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.970C>T	7.37:g.150839253C>T	ENSP00000418016:p.Arg324*					AGAP3_ENST00000463381.1_Nonsense_Mutation_p.R324*	p.R655*	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			15	1963	+			619			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Nonsense_Mutation	SNP	ENST00000463381.1	37	c.1963C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.899776	0.98996	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.	.	.	4.77	3.87	0.44632	.	0.186266	0.40302	N	0.001132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1854	0.59677	0.161:0.839:0.0:0.0	.	.	.	.	X	324;154;655;619	.	ENSP00000334157:R619X	R	+	1	2	AGAP3	150470186	1.000000	0.71417	0.264000	0.24511	0.574000	0.36063	4.588000	0.60999	1.088000	0.41272	0.655000	0.94253	CGA		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		72	1431	0	0	0	1	0	72	1431				
E2F5	1875	broad.mit.edu	37	8	86115389	86115389	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115389T>C	ENST00000416274.2	+	3	439	c.405T>C	c.(403-405)gcT>gcC	p.A135A	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Silent_p.A135A|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000418930.2_Silent_p.A135A|E2F5_ENST00000517476.1_5'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	135	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATCTTAAAGCTGAAATTGAAG	0.338																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(403-405)gcT>gcC		E2F transcription factor 5, p130-binding							56.0	54.0	55.0					8																	86115389		1845	4095	5940	SO:0001819	synonymous_variant	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86115389T>C	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.405T>C	8.37:g.86115389T>C						E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.A135A|E2F5_ENST00000416274.2_Silent_p.A135A	p.A135A			Q15329	E2F5_HUMAN			3	601	+			135			Dimerization (Potential).		E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	37	c.405T>C	CCDS47885.1																																																																																				0.338	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		13	96	0	0	0	1	0	13	96				
RNF31	55072	broad.mit.edu	37	14	24624403	24624403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24624403C>A	ENST00000324103.6	+	12	2488	c.2168C>A	c.(2167-2169)cCt>cAt	p.P723H	RNF31_ENST00000382687.3_Missense_Mutation_p.P572H|RNF31_ENST00000559275.1_Missense_Mutation_p.P572H|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.P198H	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	723					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCATCTGTCCTGACTGCTTC	0.617																																						ENST00000558468.1																			0											c.(592-594)cCt>cAt									85.0	87.0	86.0					14																	24624403		2164	4263	6427	SO:0001583	missense	0							g.chr14:24624403C>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2168C>A	14.37:g.24624403C>A	ENSP00000315112:p.Pro723His					RNF31_ENST00000382687.3_Missense_Mutation_p.P572H|RNF31_ENST00000324103.6_Missense_Mutation_p.P723H|RNF31_ENST00000559275.1_Missense_Mutation_p.P572H	p.P198H							4	593	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.593C>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534320	0.45073	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.42131	0.99;0.98	6.07	6.07	0.98685	Zinc finger, RING-type (1);	0.210165	0.41396	D	0.000894	T	0.31979	0.0814	N	0.08118	0	0.50039	D	0.999842	B;P;P	0.44380	0.091;0.745;0.834	B;B;P	0.46320	0.022;0.314;0.512	T	0.07158	-1.0787	10	0.14656	T	0.56	-14.0637	19.4154	0.94694	0.0:1.0:0.0:0.0	.	482;723;572	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	H	165;723;572	ENSP00000315112:P723H;ENSP00000372134:P572H	ENSP00000315112:P723H	P	+	2	0	RNF31	23694243	0.971000	0.33674	0.989000	0.46669	0.995000	0.86356	2.884000	0.48562	2.884000	0.98904	0.655000	0.94253	CCT		0.617	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		6	290	1	0	0.0293803	1	0.0294705	6	290				
NTNG2	84628	broad.mit.edu	37	9	135102389	135102389	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135102389C>T	ENST00000393229.3	+	4	1787	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P|NTNG2_ENST00000372179.3_Silent_p.P337P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	337	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGCCGCTGCCCCATGGCTCTC	0.647																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1009-1011)ccC>ccT		netrin G2							26.0	25.0	25.0					9																	135102389		2203	4298	6501	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102389C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1011C>T	9.37:g.135102389C>T						NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000372179.3_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P	p.P337P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1787	+			337			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.1011C>T	CCDS6946.1																																																																																				0.647	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		14	126	0	0	0	1	0	14	126				
SLC6A2	6530	broad.mit.edu	37	16	55706056	55706056	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55706056T>C	ENST00000379906.2	+	3	868	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	205					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTACTCCAAGTACAAGTTCAC	0.567																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(613-615)Tac>Cac		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						100.0	87.0	91.0					16																	55706056		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55706056T>C		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.613T>C	16.37:g.55706056T>C	ENSP00000369237:p.Tyr205His					SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H	p.Y205H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	3	868	+			205					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.613T>C	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092195	0.36952	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.73897	-0.79;-0.79;-0.79	5.8	4.65	0.58169	.	0.307757	0.37012	N	0.002281	T	0.60983	0.2311	L	0.31120	0.905	0.51233	D	0.999914	B;B;B	0.15930	0.006;0.015;0.006	B;B;B	0.21546	0.013;0.035;0.013	T	0.55003	-0.8208	10	0.15066	T	0.55	.	11.8823	0.52581	0.1306:0.0:0.0:0.8694	.	205;100;205	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	H	205	ENSP00000394956:Y205H;ENSP00000369237:Y205H;ENSP00000219833:Y205H	ENSP00000219833:Y205H	Y	+	1	0	SLC6A2	54263557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.213000	0.71641	0.528000	0.53228	TAC		0.567	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			50	237	0	0	0	1	0	50	237				
CYP4F8	11283	broad.mit.edu	37	19	15728970	15728970	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15728970C>A	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCCTGCAGAGCTTGTGGTGGT	0.542																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							103.0	104.0	104.0					19																	15728970		2130	4263	6393			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15728970C>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15728970C>A										P98187	CP4F8_HUMAN			0	407	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.542	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		89	436	1	0	2.1089e-46	1	2.5903e-46	89	436				
ILK	3611	broad.mit.edu	37	11	6630170	6630170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6630170C>A	ENST00000396751.2	+	5	960	c.504C>A	c.(502-504)ttC>ttA	p.F168L	RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Missense_Mutation_p.F168L|ILK_ENST00000528995.1_Missense_Mutation_p.S136Y|ILK_ENST00000537806.1_Missense_Mutation_p.F34L|ILK_ENST00000420936.2_Missense_Mutation_p.F168L|TAF10_ENST00000531760.1_5'Flank	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	168					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		AGGACACATTCTGGAAGGGGA	0.532																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(502-504)ttC>ttA		integrin-linked kinase							104.0	112.0	109.0					11																	6630170		2201	4296	6497	SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6630170C>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.504C>A	11.37:g.6630170C>A	ENSP00000379975:p.Phe168Leu					ILK_ENST00000537806.1_Missense_Mutation_p.F34L|ILK_ENST00000299421.4_Missense_Mutation_p.F168L|ILK_ENST00000420936.2_Missense_Mutation_p.F168L|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000528995.1_Missense_Mutation_p.S136Y	p.F168L	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	5	960	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	168					B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.504C>A	CCDS7768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.42|13.42	2.232771|2.232771	0.39498|0.39498	.|.	.|.	ENSG00000166333|ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000396751|ENST00000528995	T;D;T;T|T	0.81499|0.80214	-1.11;-1.5;-1.11;-1.11|-1.35	5.14|5.14	1.2|1.2	0.21068|0.21068	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B|B	0.24882|0.02656	0.113|0.0	B|B	0.22152|0.01281	0.038|0.0	T|T	0.68135|0.68135	-0.5489|-0.5489	10|9	0.10111|0.62326	T|D	0.7|0.03	.|.	9.0754|9.0754	0.36517|0.36517	0.0:0.6997:0.0:0.3003|0.0:0.6997:0.0:0.3003	.|.	168|136	Q13418|B7Z418	ILK_HUMAN|.	L|Y	168;34;168;168|136	ENSP00000299421:F168L;ENSP00000439606:F34L;ENSP00000403487:F168L;ENSP00000379975:F168L|ENSP00000435323:S136Y	ENSP00000299421:F168L|ENSP00000435323:S136Y	F|S	+|+	3|2	2|0	ILK|ILK	6586746|6586746	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	2.064000|2.064000	0.41432|0.41432	0.072000|0.072000	0.16694|0.16694	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.532	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		10	628	1	0	6.40141e-05	1	6.5221e-05	10	628				
TCOF1	6949	broad.mit.edu	37	5	149771736	149771736	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149771736C>T	ENST00000504761.2	+	21	3514	c.3514C>T	c.(3514-3516)Ctg>Ttg	p.L1172L	TCOF1_ENST00000513346.1_Silent_p.L1171L|TCOF1_ENST00000439160.2_Silent_p.L1134L|TCOF1_ENST00000445265.2_Silent_p.L1095L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000451292.1_Silent_p.L1209L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1172					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCACACGCTGGGTGAGGG	0.612																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3625-3627)Ctg>Ttg		Treacher Collins-Franceschetti syndrome 1							33.0	35.0	35.0					5																	149771736		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149771736C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3514C>T	5.37:g.149771736C>T						TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000504761.2_Silent_p.L1172L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000445265.2_Silent_p.L1095L|TCOF1_ENST00000513346.1_Silent_p.L1171L|TCOF1_ENST00000439160.2_Silent_p.L1134L	p.L1209L			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3733	+		all_hematologic(541;0.224)	1172					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.3625C>T	CCDS54936.1																																																																																				0.612	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		6	264	0	0	0	1	0	6	264				
DST	667	broad.mit.edu	37	6	56716322	56716322	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56716322A>C	ENST00000370754.5	-	4	497	c.498T>G	c.(496-498)tcT>tcG	p.S166S	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGCGGAGCCAGATTTCTGGC	0.512											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(496-498)tcT>tcG		dystonin							55.0	52.0	53.0					6																	56716322		1568	3582	5150	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56716322A>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.498T>G	6.37:g.56716322A>C			OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1017	RP11-472M19.2_ENST00000426453.1_RNA	p.S166S			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		4	497	-	Lung NSC(77;0.103)		0			Actin-binding.|CH 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370754.5	37	c.498T>G																																																																																					0.512	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723		25	127	0	0	0	1	0	25	127				
DLAT	1737	broad.mit.edu	37	11	111930659	111930659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111930659G>A	ENST00000280346.6	+	12	2206	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	DLAT_ENST00000393051.1_Missense_Mutation_p.S411N|DLAT_ENST00000537636.1_Missense_Mutation_p.S287N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	516	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GTTGCGGTCAGTACTCCTGCA	0.348																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1546-1548)aGt>aAt		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						95.0	72.0	80.0					11																	111930659		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111930659G>A	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1547G>A	11.37:g.111930659G>A	ENSP00000280346:p.Ser516Asn					DLAT_ENST00000393051.1_Missense_Mutation_p.S411N|DLAT_ENST00000537636.1_Missense_Mutation_p.S287N	p.S516N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	12	2206	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	516			Catalytic (By similarity).		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1547G>A	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215917	0.79352	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.07	6.07	0.98685	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.83223	2.63	0.80722	D	1	P;D;P	0.57571	0.84;0.98;0.84	P;D;P	0.78314	0.886;0.991;0.886	T	0.70695	-0.4801	10	0.59425	D	0.04	-15.1278	20.6593	0.99626	0.0:0.0:1.0:0.0	.	516;411;516	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	N	516;411;348;287	ENSP00000280346:S516N;ENSP00000376771:S411N;ENSP00000433432:S348N;ENSP00000442427:S287N	ENSP00000280346:S516N	S	+	2	0	DLAT	111435869	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.430000	0.73391	2.885000	0.99019	0.655000	0.94253	AGT		0.348	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		42	167	0	0	0	1	0	42	167				
SLC16A5	9121	broad.mit.edu	37	17	73096797	73096797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73096797G>A	ENST00000450736.2	+	4	1454	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	347					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGGCATCGGCGCCCTCATCTT	0.592																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1039-1041)Gcc>Acc		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						240.0	203.0	216.0					17																	73096797		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096797G>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1039G>A	17.37:g.73096797G>A	ENSP00000390564:p.Ala347Thr					SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T	p.A347T			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1454	+	all_lung(278;0.226)		347					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.1039G>A	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579837	0.46006	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.51325	0.71;0.71;0.71	4.72	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.289746	0.38326	N	0.001732	T	0.39172	0.1068	M	0.72894	2.215	0.26880	N	0.967566	B;B	0.30439	0.279;0.279	B;B	0.26693	0.066;0.072	T	0.23691	-1.0181	10	0.24483	T	0.36	.	5.3555	0.16059	0.1431:0.0:0.6756:0.1813	.	387;347	B4E288;O15375	.;MOT6_HUMAN	T	347;347;387	ENSP00000330141:A347T;ENSP00000390564:A347T;ENSP00000440212:A387T	ENSP00000330141:A347T	A	+	1	0	SLC16A5	70608392	0.999000	0.42202	0.355000	0.25773	0.842000	0.47809	3.272000	0.51616	0.426000	0.26116	0.561000	0.74099	GCC		0.592	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		73	321	0	0	0	1	0	73	321				
FAM183B	340286	broad.mit.edu	37	7	38725552	38725552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38725552C>A	ENST00000409072.3	-	2	988	c.54G>T	c.(52-54)caG>caT	p.Q18H				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	18										endometrium(1)|lung(7)	8						CCCGCAAGATCTGGTTCTGAT	0.577																																						ENST00000409072.3																			0				endometrium(1)|lung(7)	8						c.(52-54)caG>caT		family with sequence similarity 183, member B							98.0	101.0	100.0					7																	38725552		1980	4153	6133	SO:0001583	missense	340286							g.chr7:38725552C>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.54G>T	7.37:g.38725552C>A	ENSP00000386657:p.Gln18His						p.Q18H							2	988	-								A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.54G>T		.	.	.	.	.	.	.	.	.	.	C	12.42	1.933309	0.34096	.	.	ENSG00000164556	ENST00000409072	.	.	.	0.9	0.9	0.19278	.	0.499981	0.18733	N	0.132677	T	0.33498	0.0865	.	.	.	0.24301	N	0.995122	.	.	.	.	.	.	T	0.17289	-1.0374	6	0.44086	T	0.13	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	.	.	.	H	18	.	ENSP00000386657:Q18H	Q	-	3	2	FAM183B	38692077	0.995000	0.38212	0.896000	0.35187	0.900000	0.52787	1.168000	0.31859	0.308000	0.22923	0.313000	0.20887	CAG		0.577	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		73	284	1	0	1.34568e-36	1	1.61182e-36	73	284				
TNXB	7148	broad.mit.edu	37	6	32052335	32052335	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32052335G>A	ENST00000375244.3	-	8	3501	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	TNXB_ENST00000375247.2_Silent_p.D1100D			P22105	TENX_HUMAN	tenascin XB	1187	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGCCCGTCCCTGTCTT	0.617																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3298-3300)gaC>gaT		tenascin XB							34.0	38.0	36.0					6																	32052335		1347	2574	3921	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32052335G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3300C>T	6.37:g.32052335G>A						TNXB_ENST00000375247.2_Silent_p.D1100D	p.D1100D			P22105	TENX_HUMAN			8	3501	-			1187			Fibronectin type-III 3.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.3300C>T																																																																																					0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		17	144	0	0	0	1	0	17	144				
NBPF22P	285622	broad.mit.edu	37	5	85578621	85578621	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85578621C>T	ENST00000590707.1	+	0	344					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		AGCGAGAGGGCAGAGATGAAC	0.502																																						ENST00000590707.1																			0																																																			0							g.chr5:85578621C>T	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85578621C>T								NR_003719.2						0	344	+									RNA	SNP	ENST00000590707.1	37																																																																																						0.502	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	XM_208333		69	356	0	0	0	1	0	69	356				
VWA7	80737	broad.mit.edu	37	6	31734467	31734467	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31734467A>C	ENST00000375688.4	-	14	2157	c.1957T>G	c.(1957-1959)Ttc>Gtc	p.F653V	VWA7_ENST00000375686.3_Missense_Mutation_p.F653V|VWA7_ENST00000447450.1_Missense_Mutation_p.F646C|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	653						extracellular region (GO:0005576)											ACGTGGGAGAAATGCGGCTGA	0.642																																						ENST00000375686.3																			0											c.(1957-1959)Ttc>Gtc		von Willebrand factor A domain containing 7							66.0	76.0	72.0					6																	31734467		1508	2708	4216	SO:0001583	missense	80737					extracellular region		g.chr6:31734467A>C		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1957T>G	6.37:g.31734467A>C	ENSP00000364840:p.Phe653Val					VWA7_ENST00000447450.1_Missense_Mutation_p.F646C|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.F653V	p.F653V	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			14	2194	-			653					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1957T>G	CCDS4721.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.261429|2.261429	0.39995|0.39995	.|.	.|.	ENSG00000204396|ENSG00000204396	ENST00000447450|ENST00000375688;ENST00000375686	T|T;T	0.34072|0.15256	1.38|2.65;2.44	4.95|4.95	3.79|3.79	0.43588|0.43588	.|.	0.220091|0.220091	0.38548|0.38548	N|N	0.001645|0.001645	T|T	0.03783|0.03783	0.0107|0.0107	L|L	0.29908|0.29908	0.895|0.895	0.23351|0.23351	N|N	0.997856|0.997856	.|P	.|0.48294	.|0.908	.|B	.|0.41412	.|0.356	T|T	0.27905|0.27905	-1.0060|-1.0060	8|10	0.56958|0.16896	D|T	0.05|0.51	-25.5297|-25.5297	5.8942|5.8942	0.18929|0.18929	0.8813:0.0:0.1187:0.0|0.8813:0.0:0.1187:0.0	.|.	.|653	.|Q9Y334	.|G7C_HUMAN	C|V	646|653	ENSP00000390554:F646C|ENSP00000364840:F653V;ENSP00000364838:F653V	ENSP00000390554:F646C|ENSP00000364838:F653V	F|F	-|-	2|1	0|0	C6orf27|C6orf27	31842446|31842446	0.975000|0.975000	0.34042|0.34042	0.967000|0.967000	0.41034|0.41034	0.455000|0.455000	0.32408|0.32408	2.531000|2.531000	0.45650|0.45650	2.073000|2.073000	0.62155|0.62155	0.460000|0.460000	0.39030|0.39030	TTT|TTC		0.642	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		73	384	0	0	0	1	0	73	384				
UBR5	51366	broad.mit.edu	37	8	103307906	103307906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103307906C>T	ENST00000520539.1	-	29	4376	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H	UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1257					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGTGAGCAGGCGATAAAGTAG	0.418																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(3769-3771)cGc>cAc		ubiquitin protein ligase E3 component n-recognin 5							124.0	115.0	118.0					8																	103307906		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103307906C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3770G>A	8.37:g.103307906C>T	ENSP00000429084:p.Arg1257His					UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H|UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H	p.R1257H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		29	4376	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1257					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3770G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883557	0.91740	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.79;0.79;0.79	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.35854	1.095	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.60383	-0.7274	10	0.52906	T	0.07	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1251;1257	E7EMW7;O95071	.;UBR5_HUMAN	H	1257;1257;1251	ENSP00000429084:R1257H;ENSP00000220959:R1257H;ENSP00000427819:R1251H	ENSP00000220959:R1257H	R	-	2	0	UBR5	103377082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.506000	0.81665	2.685000	0.91497	0.585000	0.79938	CGC		0.418	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		11	214	0	0	0	1	0	11	214				
KIAA2026	158358	broad.mit.edu	37	9	5920791	5920791	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5920791A>G	ENST00000399933.3	-	8	5204	c.5205T>C	c.(5203-5205)tgT>tgC	p.C1735C	KIAA2026_ENST00000381461.2_Silent_p.C1705C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1735										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGATGTTAAACATTTAGGAG	0.423																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(5203-5205)tgT>tgC		KIAA2026							148.0	143.0	145.0					9																	5920791		1923	4129	6052	SO:0001819	synonymous_variant	158358							g.chr9:5920791A>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5205T>C	9.37:g.5920791A>G						KIAA2026_ENST00000381461.2_Silent_p.C1705C	p.C1735C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5204	-		Acute lymphoblastic leukemia(23;0.158)	1735					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.5205T>C																																																																																					0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		116	457	0	0	0	1	0	116	457				
OR13C9	286362	broad.mit.edu	37	9	107379988	107379988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379988C>T	ENST00000259362.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCAGAAAGGCAATTGTACTA	0.443																																						ENST00000259362.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(496-498)ttG>ttA		olfactory receptor, family 13, subfamily C, member 9							124.0	106.0	112.0					9																	107379988		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379988C>T		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.498G>A	9.37:g.107379988C>T							p.L166L	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	497	-			166					Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.498G>A	CCDS35093.1																																																																																				0.443	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			60	381	0	0	0	1	0	60	381				
PCGF5	84333	broad.mit.edu	37	10	93011074	93011074	+	Silent	SNP	G	G	A	rs570347532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011074G>A	ENST00000336126.5	+	6	583	c.351G>A	c.(349-351)ccG>ccA	p.P117P	PCGF5_ENST00000543648.1_Silent_p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CTGACAAACCGAAAGTAGATG	0.299													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15980	0.0		0.0	False		,,,				2504	0.0				Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(349-351)ccG>ccA		polycomb group ring finger 5							90.0	86.0	87.0					10																	93011074		2202	4300	6502	SO:0001819	synonymous_variant	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93011074G>A	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.351G>A	10.37:g.93011074G>A						PCGF5_ENST00000543648.1_Silent_p.P117P	p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN			6	583	+			117					B7Z892|D3DR33|Q6PK47|Q86TD0	Silent	SNP	ENST00000336126.5	37	c.351G>A	CCDS7413.1																																																																																				0.299	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		31	168	0	0	0	1	0	31	168				
RNF11	26994	broad.mit.edu	37	1	51736946	51736946	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51736946C>T	ENST00000242719.3	+	3	903	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	139					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						GCCCCTCCTGCATGGAGCCAG	0.468																																						ENST00000242719.3																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	large_intestine(1)	1						c.(415-417)tgC>tgT		ring finger protein 11							149.0	122.0	131.0					1																	51736946		2203	4300	6503	SO:0001819	synonymous_variant	26994				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	g.chr1:51736946C>T	AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"""RING-type (C3HC4) zinc fingers"""	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.417C>T	1.37:g.51736946C>T						RNF11_ENST00000494873.1_3'UTR	p.C139C	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN			3	903	+			139					A8KAI2|Q5T7R8	Silent	SNP	ENST00000242719.3	37	c.417C>T	CCDS556.1																																																																																				0.468	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1	NM_014372		48	292	0	0	0	1	0	48	292				
PLCD4	84812	broad.mit.edu	37	2	219492850	219492850	+	Missense_Mutation	SNP	G	G	A	rs534863670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219492850G>A	ENST00000450993.2	+	7	1210	c.871G>A	c.(871-873)Gat>Aat	p.D291N	PLCD4_ENST00000417849.1_Missense_Mutation_p.D291N|PLCD4_ENST00000432688.1_Missense_Mutation_p.D291N	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	291	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCTATCAGGATATGACTCA	0.522																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(871-873)Gat>Aat		phospholipase C, delta 4							143.0	144.0	144.0					2																	219492850		2062	4201	6263	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219492850G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.871G>A	2.37:g.219492850G>A	ENSP00000388631:p.Asp291Asn					PLCD4_ENST00000417849.1_Missense_Mutation_p.D291N|PLCD4_ENST00000432688.1_Missense_Mutation_p.D291N	p.D291N	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1210	+		Renal(207;0.0915)	291			PI-PLC X-box.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.871G>A	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706341	0.96821	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.64085	-0.08;-0.08;-0.08	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.047569	0.85682	D	0.000000	T	0.81927	0.4926	M	0.84585	2.705	0.80722	D	1	P;D	0.89917	0.865;1.0	P;D	0.91635	0.905;0.999	D	0.84567	0.0653	10	0.72032	D	0.01	.	18.3981	0.90505	0.0:0.0:1.0:0.0	.	291;291	B7Z5V4;Q9BRC7	.;PLCD4_HUMAN	N	291	ENSP00000388631:D291N;ENSP00000396942:D291N;ENSP00000396185:D291N	ENSP00000251959:D291N	D	+	1	0	PLCD4	219201094	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.594000	0.98254	2.665000	0.90641	0.563000	0.77884	GAT		0.522	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			10	626	0	0	0	1	0	10	626				
SLC38A8	146167	broad.mit.edu	37	16	84056473	84056473	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056473T>C	ENST00000299709.3	-	6	711	c.712A>G	c.(712-714)Atc>Gtc	p.I238V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	238					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCAGTAGATGGAGACGGCA	0.567																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(712-714)Atc>Gtc		solute carrier family 38, member 8							72.0	55.0	61.0					16																	84056473		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056473T>C		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.712A>G	16.37:g.84056473T>C	ENSP00000299709:p.Ile238Val						p.I238V	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	711	-			238						Missense_Mutation	SNP	ENST00000299709.3	37	c.712A>G	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.442334	0.01089	.	.	ENSG00000166558	ENST00000299709	T	0.03860	3.78	5.37	1.73	0.24493	.	0.174225	0.49916	N	0.000124	T	0.02929	0.0087	N	0.17838	0.53	0.47737	D	0.999505	B	0.27013	0.166	B	0.28465	0.09	T	0.50996	-0.8761	10	0.12103	T	0.63	.	7.7735	0.29023	0.0:0.2919:0.0:0.7081	.	238	A6NNN8	S38A8_HUMAN	V	238	ENSP00000299709:I238V	ENSP00000299709:I238V	I	-	1	0	SLC38A8	82613974	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	1.236000	0.32683	0.305000	0.22832	-0.384000	0.06662	ATC		0.567	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		16	151	0	0	0	1	0	16	151				
ARFIP2	23647	broad.mit.edu	37	11	6500398	6500398	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6500398A>G	ENST00000254584.2	-	4	370	c.287T>C	c.(286-288)gTc>gCc	p.V96A	ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A|ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|TIMM10B_ENST00000472836.1_5'Flank|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	96					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATTTCTTGACGATGTCAAA	0.502																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(286-288)gTc>gCc		ADP-ribosylation factor interacting protein 2							90.0	82.0	85.0					11																	6500398		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500398A>G	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.287T>C	11.37:g.6500398A>G	ENSP00000254584:p.Val96Ala					ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|ARFIP2_ENST00000445086.2_Intron	p.V96A	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	370	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	96					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.287T>C	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003961	0.93287	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.79352	-1.26;-1.26;-1.26	5.6	5.6	0.85130	.	0.215125	0.48767	D	0.000161	D	0.83510	0.5270	M	0.65498	2.005	0.80722	D	1	P;P	0.51537	0.946;0.863	P;P	0.54060	0.741;0.484	D	0.85554	0.1223	10	0.72032	D	0.01	.	15.4442	0.75216	1.0:0.0:0.0:0.0	.	129;96	B4DUZ3;P53365	.;ARFP2_HUMAN	A	96;96;58;96	ENSP00000254584:V96A;ENSP00000379998:V96A;ENSP00000398375:V58A	ENSP00000254584:V96A	V	-	2	0	ARFIP2	6456974	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.333000	0.79214	2.148000	0.66965	0.397000	0.26171	GTC		0.502	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		53	292	0	0	0	1	0	53	292				
DNHD1	144132	broad.mit.edu	37	11	6588955	6588955	+	Silent	SNP	G	G	A	rs375313570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6588955G>A	ENST00000527990.2	+	34	12216	c.12216G>A	c.(12214-12216)acG>acA	p.T4072T	DNHD1_ENST00000254579.6_Silent_p.T4072T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4072					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAAACACGTATGCTCCCA	0.592																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(12214-12216)acG>acA		dynein heavy chain domain 1		G		0,4128		0,0,2064	73.0	75.0	74.0		12216	1.7	0.0	11		74	2,8378		0,2,4188	no	coding-synonymous	DNHD1	NM_144666.2		0,2,6252	AA,AG,GG		0.0239,0.0,0.016		4072/4754	6588955	2,12506	2064	4190	6254	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588955G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12216G>A	11.37:g.6588955G>A						DNHD1_ENST00000527990.2_Silent_p.T4072T	p.T4072T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12780	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4072					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.12216G>A	CCDS44532.1																																																																																				0.592	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		85	353	0	0	0	1	0	85	353				
FAT4	79633	broad.mit.edu	37	4	126412394	126412394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412394G>A	ENST00000394329.3	+	17	14430	c.14417G>A	c.(14416-14418)tGc>tAc	p.C4806Y	FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4806					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						CCAAGTATCTGCAGTGCAGAC	0.522																																						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.(14416-14418)tGc>tAc		FAT atypical cadherin 4							59.0	61.0	60.0					4																	126412394		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412394G>A	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.14417G>A	4.37:g.126412394G>A	ENSP00000377862:p.Cys4806Tyr					FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	p.C4806Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14430	+			4806					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14417G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478360	0.44044	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75589	-0.75;-0.95	4.87	4.87	0.63330	.	0.000000	0.37761	U	0.001958	D	0.83138	0.5189	L	0.57536	1.79	0.53005	D	0.999967	D;D;D	0.69078	0.997;0.995;0.997	D;P;D	0.66497	0.944;0.88;0.944	D	0.84756	0.0759	10	0.59425	D	0.04	.	17.0284	0.86454	0.0:0.0:1.0:0.0	.	3047;4806;4805	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Y	4806;3047	ENSP00000377862:C4806Y;ENSP00000335169:C3047Y	ENSP00000335169:C3047Y	C	+	2	0	FAT4	126631844	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.135000	0.77276	2.253000	0.74438	0.491000	0.48974	TGC		0.522	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		26	375	0	0	0	1	0	26	375				
PVRL1	5818	broad.mit.edu	37	11	119535612	119535612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535612G>A	ENST00000264025.3	-	6	1929	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	467					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGAAGTAGGGCCGCTTGGCG	0.662																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1399-1401)Ccc>Tcc		poliovirus receptor-related 1 (herpesvirus entry mediator C)							51.0	44.0	46.0					11																	119535612		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535612G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1399C>T	11.37:g.119535612G>A	ENSP00000264025:p.Pro467Ser					PVRL1_ENST00000341398.2_Intron	p.P467S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1929	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	467					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1399C>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	11.38	1.621452	0.28889	.	.	ENSG00000110400	ENST00000264025	T	0.18657	2.2	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	L	0.43152	1.355	0.80722	D	1	P	0.51057	0.941	B	0.41036	0.346	T	0.09684	-1.0663	10	0.72032	D	0.01	.	15.7712	0.78170	0.0:0.0:1.0:0.0	.	467	Q15223	PVRL1_HUMAN	S	467	ENSP00000264025:P467S	ENSP00000264025:P467S	P	-	1	0	PVRL1	119040822	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	7.350000	0.79385	2.108000	0.64289	0.479000	0.44913	CCC		0.662	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			10	175	0	0	0	1	0	10	175				
CCHCR1	54535	broad.mit.edu	37	6	31117930	31117930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31117930G>A	ENST00000376266.5	-	8	1130	c.1008C>T	c.(1006-1008)cgC>cgT	p.R336R	CCHCR1_ENST00000451521.2_Silent_p.R389R|CCHCR1_ENST00000396268.3_Silent_p.R425R|CCHCR1_ENST00000396263.2_Silent_p.R336R|CCHCR1_ENST00000480060.1_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	336					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCTCCCGCCAGCGGTTCAGCA	0.562																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1273-1275)cgC>cgT		coiled-coil alpha-helical rod protein 1							77.0	68.0	71.0					6																	31117930		2203	4300	6503	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31117930G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1008C>T	6.37:g.31117930G>A						CCHCR1_ENST00000451521.2_Silent_p.R389R|CCHCR1_ENST00000396263.2_Silent_p.R336R|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Silent_p.R336R	p.R425R	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			8	1463	-			336					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.1275C>T	CCDS4695.1																																																																																				0.562	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		7	246	0	0	0	1	0	7	246				
SAMD8	142891	broad.mit.edu	37	10	76928312	76928312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76928312C>T	ENST00000542569.1	+	4	791	c.688C>T	c.(688-690)Cga>Tga	p.R230*	SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*|SAMD8_ENST00000372687.4_Nonsense_Mutation_p.R230*	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	230					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AATACTTCTGCGAAGGCTCTG	0.453																																						ENST00000542569.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(688-690)Cga>Tga		sterile alpha motif domain containing 8							309.0	291.0	297.0					10																	76928312		2203	4300	6503	SO:0001587	stop_gained	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76928312C>T	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.688C>T	10.37:g.76928312C>T	ENSP00000438042:p.Arg230*					SAMD8_ENST00000372687.3_Nonsense_Mutation_p.R230*|SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*	p.R230*	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			4	791	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		230					Q5JSC5|Q5JSC8|Q66K52	Nonsense_Mutation	SNP	ENST00000542569.1	37	c.688C>T	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632714	0.96682	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.208	19.5724	0.95427	0.0:1.0:0.0:0.0	.	.	.	.	X	230;293;230;230	.	ENSP00000361772:R230X	R	+	1	2	SAMD8	76598318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.624000	0.88883	0.650000	0.86243	CGA		0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		180	740	0	0	0	1	0	180	740				
ZNF229	7772	broad.mit.edu	37	19	44934204	44934204	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44934204T>G	ENST00000588931.1	-	6	1185	c.752A>C	c.(751-753)aAa>aCa	p.K251T	ZNF229_ENST00000291187.4_Missense_Mutation_p.K245T|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TACAGAGTTTTTAATGCAGTC	0.433																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(733-735)aAa>aCa		zinc finger protein 229							121.0	111.0	114.0					19																	44934204		1888	4109	5997	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934204T>G	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.752A>C	19.37:g.44934204T>G	ENSP00000466519:p.Lys251Thr					ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.K251T	p.K245T	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1056	-		Prostate(69;0.0352)	251					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.734A>C	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	T	8.302	0.820100	0.16678	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.92	1.24	0.21308	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24048	-1.0171	8	0.27082	T	0.32	.	6.3199	0.21213	0.0:0.1102:0.1737:0.716	.	251	Q9UJW7	ZN229_HUMAN	T	251	.	ENSP00000291187:K251T	K	-	2	0	ZNF229	49626044	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.197000	0.09518	0.386000	0.24997	0.496000	0.49642	AAA		0.433	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		103	380	0	0	0	1	0	103	380				
CRB1	23418	broad.mit.edu	37	1	197297875	197297875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297875C>T	ENST00000367400.3	+	2	529	c.394C>T	c.(394-396)Cct>Tct	p.P132S	CRB1_ENST00000535699.1_Missense_Mutation_p.P63S|CRB1_ENST00000367399.2_Missense_Mutation_p.P132S|CRB1_ENST00000538660.1_Missense_Mutation_p.P132S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	132	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCCTATTTATCCTGTCTGCAT	0.512																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(394-396)Cct>Tct		crumbs homolog 1 (Drosophila)							94.0	80.0	85.0					1																	197297875		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297875C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.394C>T	1.37:g.197297875C>T	ENSP00000356370:p.Pro132Ser					CRB1_ENST00000538660.1_Missense_Mutation_p.P132S|CRB1_ENST00000535699.1_Missense_Mutation_p.P63S|CRB1_ENST00000367399.2_Missense_Mutation_p.P132S	p.P132S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	529	+			132			EGF-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.394C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974088	0.18736	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	T;D;D;D	0.91577	3.21;-2.22;-1.74;-2.87	5.73	5.73	0.89815	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90164	0.6926	N	0.12887	0.27	0.80722	D	1	D;D;B;D;D	0.89917	0.976;0.966;0.163;1.0;1.0	P;P;B;D;D	0.85130	0.772;0.64;0.102;0.997;0.986	D	0.91156	0.4957	9	0.72032	D	0.01	.	13.4768	0.61314	0.0:0.9285:0.0:0.0715	.	132;63;132;132;157	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	S	63;132;132;132	ENSP00000438786:P63S;ENSP00000438091:P132S;ENSP00000356370:P132S;ENSP00000356369:P132S	ENSP00000356369:P132S	P	+	1	0	CRB1	195564498	.	.	0.087000	0.20705	0.095000	0.18619	.	.	2.854000	0.98071	0.655000	0.94253	CCT		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		27	129	0	0	0	1	0	27	129				
SENP5	205564	broad.mit.edu	37	3	196613102	196613102	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196613102C>A	ENST00000323460.5	+	2	1299	c.1050C>A	c.(1048-1050)ggC>ggA	p.G350G	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.G350G	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	350					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AACAGAATGGCAGTGCCACAA	0.488																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(1048-1050)ggC>ggA		SUMO1/sentrin specific peptidase 5							79.0	71.0	73.0					3																	196613102		2203	4300	6503	SO:0001819	synonymous_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196613102C>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1050C>A	3.37:g.196613102C>A						SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.G350G	p.G350G	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1299	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		350					B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	c.1050C>A	CCDS3322.1																																																																																				0.488	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		18	255	1	0	9.16793e-09	1	9.60025e-09	18	255				
SCN9A	6335	broad.mit.edu	37	2	167145116	167145116	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167145116A>G	ENST00000409435.1	-	9	1144	c.1145T>C	c.(1144-1146)tTt>tCt	p.F382S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F383S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F383S|SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	382					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTACGACAAAGAAGATCAT	0.368																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1147-1149)tTt>tCt		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						72.0	69.0	70.0					2																	167145116		1833	4110	5943	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167145116A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1145T>C	2.37:g.167145116A>G	ENSP00000386330:p.Phe382Ser					SCN9A_ENST00000303354.6_Missense_Mutation_p.F383S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F382S	p.F383S			Q15858	SCN9A_HUMAN			10	1488	-			382					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1148T>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945236	0.92593	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48;-5.48	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.64402	D	0.000005	D	0.99654	0.9872	H	0.99169	4.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97294	0.9926	10	0.87932	D	0	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	382;382;383	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	S	382;383;383;382;247;247	ENSP00000386306:F382S;ENSP00000364536:F383S;ENSP00000304748:F383S;ENSP00000386330:F382S;ENSP00000413212:F247S;ENSP00000393141:F247S	ENSP00000304748:F383S	F	-	2	0	SCN9A	166853362	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.261000	0.95576	2.237000	0.73441	0.528000	0.53228	TTT		0.368	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	257	0	0	0	1	0	7	257				
PARP1	142	broad.mit.edu	37	1	226589969	226589969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226589969G>A	ENST00000366794.5	-	2	375	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	PARP1_ENST00000366791.5_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W|PARP1_ENST00000366792.1_Missense_Mutation_p.R78W	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	78					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCATCCCACCGAAGCTCAGAG	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(232-234)Cgg>Tgg	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							99.0	86.0	91.0					1																	226589969		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226589969G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.232C>T	1.37:g.226589969G>A	ENSP00000355759:p.Arg78Trp					PARP1_ENST00000366792.1_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W|PARP1_ENST00000366791.5_Missense_Mutation_p.R78W	p.R78W	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	2	375	-	Breast(184;0.133)		78					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.232C>T	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333371	0.81801	.	.	ENSG00000143799	ENST00000432338;ENST00000366794;ENST00000366792;ENST00000366791;ENST00000366790	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.2	3.25	0.37280	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80450	-0.1377	10	0.87932	D	0	.	14.6497	0.68786	0.0:0.0:0.797:0.203	.	78	P09874	PARP1_HUMAN	W	78	ENSP00000355759:R78W;ENSP00000355757:R78W;ENSP00000355756:R78W;ENSP00000355755:R78W	ENSP00000355755:R78W	R	-	1	2	PARP1	224656592	1.000000	0.71417	0.556000	0.28293	0.987000	0.75469	4.067000	0.57527	0.486000	0.27676	0.650000	0.86243	CGG		0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		67	352	0	0	0	1	0	67	352				
CATSPER1	117144	broad.mit.edu	37	11	65793392	65793392	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793392T>G	ENST00000312106.5	-	1	596	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	153	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACCGAGATATTGGGGTCTGC	0.567																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(457-459)caA>caC		cation channel, sperm associated 1							60.0	53.0	56.0					11																	65793392		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793392T>G	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.459A>C	11.37:g.65793392T>G	ENSP00000309052:p.Gln153His						p.Q153H	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	596	-			153			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.459A>C	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	3.680	-0.065727	0.07273	.	.	ENSG00000175294	ENST00000312106	D	0.96774	-4.12	3.04	-4.23	0.03789	.	.	.	.	.	T	0.81631	0.4863	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76647	-0.2882	9	0.13470	T	0.59	.	1.3325	0.02138	0.3008:0.1408:0.4097:0.1487	.	153	Q8NEC5	CTSR1_HUMAN	H	153	ENSP00000309052:Q153H	ENSP00000309052:Q153H	Q	-	3	2	CATSPER1	65549968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.741000	0.04855	-1.075000	0.03129	-0.940000	0.02684	CAA		0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		54	235	0	0	0	1	0	54	235				
TTN	7273	broad.mit.edu	37	2	179528605	179528605	+	Intron	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179528605A>G	ENST00000591111.1	-	154	34489				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I12130T|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CTCTTCGCGGATAACCTCTTT	0.418																																						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.(36388-36390)aTc>aCc		titin							293.0	271.0	278.0					2																	179528605		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528605A>G	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.34265-5084T>C	2.37:g.179528605A>G						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron	p.I12130T	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)		170	36613	-			10279			Ig-like 80.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.36389T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.11|15.11	2.735432|2.735432	0.49045|0.49045	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000541862;ENST00000392423|ENST00000425332	.|.	.|.	.|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|.	.|.	.|.	.|.	T|T	0.41419|0.41419	0.1158|0.1158	.|.	.|.	.|.	0.25272|0.25272	N|N	0.989505|0.989505	B|.	0.29432|.	0.244|.	B|.	0.24541|.	0.054|.	T|T	0.28170|0.28170	-1.0052|-1.0052	7|4	0.12766|.	T|.	0.61|.	.|.	11.8131|11.8131	0.52194|0.52194	0.8538:0.1462:0.0:0.0|0.8538:0.1462:0.0:0.0	.|.	404|.	Q71S18|.	.|.	T|P	404;256|194	.|.	ENSP00000376219:I256T|.	I|S	-|-	2|1	0|0	TTN|TTN	179236850|179236850	0.000000|0.000000	0.05858|0.05858	0.551000|0.551000	0.28230|0.28230	0.001000|0.001000	0.01503|0.01503	0.302000|0.302000	0.19192|0.19192	1.895000|1.895000	0.54865|0.54865	0.460000|0.460000	0.39030|0.39030	ATC|TCC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	1046	0	0	0	1	0	23	1046				
MIR412	574433	broad.mit.edu	37	14	101533122	101533122	+	RNA	SNP	C	C	T	rs375626394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101533122C>T	ENST00000362142.2	+	0	91				MIR656_ENST00000385224.1_RNA|MIR410_ENST00000362222.2_RNA|MIR369_ENST00000362155.3_RNA|MIR541_ENST00000401360.1_RNA|MIR409_ENST00000362237.1_RNA	NR_030155.1				microRNA 412																		CAGTCAACCTCTTTCCGATAT	0.498																																						ENST00000385224.1																			0															C		1,3135		0,1,1567	155.0	149.0	151.0			3.7	1.0	14		151	0,7164		0,0,3582	no	intergenic				0,1,5149	TT,TC,CC		0.0,0.0319,0.0097			101533122	1,10299	1568	3582	5150			0							g.chr14:101533122C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101533122C>T								NR_030392.1						0	62	+									RNA	SNP	ENST00000362142.2	37																																																																																						0.498	MIR412-201	KNOWN	basic	miRNA	miRNA		NR_030155		88	371	0	0	0	1	0	88	371				
NPC1	4864	broad.mit.edu	37	18	21134834	21134834	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21134834T>C	ENST00000269228.5	-	9	1995	c.1441A>G	c.(1441-1443)Att>Gtt	p.I481V	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.I231V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	481					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACACTCAAAATGGTGCAGTTC	0.448																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1441-1443)Att>Gtt		Niemann-Pick disease, type C1							158.0	129.0	139.0					18																	21134834		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21134834T>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1441A>G	18.37:g.21134834T>C	ENSP00000269228:p.Ile481Val					NPC1_ENST00000412552.2_Missense_Mutation_p.I231V|NPC1_ENST00000540608.1_5'UTR	p.I481V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			9	1995	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		481					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1441A>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081134	0.55753	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.81908	-1.55;-1.55	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	L	0.41573	1.285	0.41445	D	0.987945	B;B	0.31790	0.224;0.34	B;B	0.37091	0.07;0.241	T	0.72750	-0.4199	10	0.11485	T	0.65	-24.1019	14.7895	0.69830	0.0:0.0:0.0:1.0	.	492;481	Q59GR1;O15118	.;NPC1_HUMAN	V	481;231;326	ENSP00000269228:I481V;ENSP00000408606:I231V	ENSP00000269228:I481V	I	-	1	0	NPC1	19388832	1.000000	0.71417	0.980000	0.43619	0.981000	0.71138	4.056000	0.57448	1.945000	0.56424	0.533000	0.62120	ATT		0.448	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		46	195	0	0	0	1	0	46	195				
EXTL2	2135	broad.mit.edu	37	1	101342387	101342387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101342387C>A	ENST00000370114.3	-	4	1903	c.467G>T	c.(466-468)aGc>aTc	p.S156I	EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I|EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	156					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GTCTGGGGTGCTGATGAGTGT	0.358																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(466-468)aGc>aTc		exostosin-like glycosyltransferase 2							148.0	136.0	140.0					1																	101342387		2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101342387C>A	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.467G>T	1.37:g.101342387C>A	ENSP00000359132:p.Ser156Ile					EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I|EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I	p.S156I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	4	1903	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	156					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.467G>T	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351157	0.82132	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88495	0.3078	10	0.51188	T	0.08	-29.5482	20.1572	0.98116	0.0:1.0:0.0:0.0	.	155;156	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	I	156;156;143;164	ENSP00000359132:S156I;ENSP00000359131:S156I;ENSP00000444385:S143I;ENSP00000403363:S164I	ENSP00000359131:S156I	S	-	2	0	EXTL2	101114975	1.000000	0.71417	0.977000	0.42913	0.534000	0.34807	7.388000	0.79795	2.762000	0.94881	0.650000	0.86243	AGC		0.358	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		60	283	1	0	7.1157e-29	1	8.29994e-29	60	283				
SPG20	23111	broad.mit.edu	37	13	36878678	36878678	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878678T>C	ENST00000451493.1	-	9	2042	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	SPG20_ENST00000494062.2_Missense_Mutation_p.I609V|SPG20_ENST00000355182.4_Missense_Mutation_p.I609V|SPG20_ENST00000438666.2_Missense_Mutation_p.I609V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	609					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATTGCTTTGATACCAATGTTG	0.418																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1825-1827)Atc>Gtc		spastic paraplegia 20 (Troyer syndrome)							235.0	203.0	214.0					13																	36878678		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36878678T>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1825A>G	13.37:g.36878678T>C	ENSP00000414147:p.Ile609Val					SPG20_ENST00000438666.2_Missense_Mutation_p.I609V|SPG20_ENST00000494062.2_Missense_Mutation_p.I609V|SPG20_ENST00000355182.4_Missense_Mutation_p.I609V	p.I609V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	9	2042	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	609					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1825A>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776230	0.49786	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88586	-2.4;-2.4;-2.4	5.16	3.97	0.46021	Senescence/spartin-associated (1);	0.109916	0.64402	N	0.000010	D	0.85570	0.5727	L	0.42581	1.335	0.38750	D	0.954083	P;P	0.49447	0.924;0.924	P;P	0.50617	0.646;0.646	T	0.82619	-0.0368	10	0.02654	T	1	-6.3075	10.8538	0.46786	0.0:0.0747:0.0:0.9253	.	609;609	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	V	609	ENSP00000406061:I609V;ENSP00000347314:I609V;ENSP00000414147:I609V	ENSP00000347314:I609V	I	-	1	0	SPG20	35776678	0.995000	0.38212	0.872000	0.34217	0.485000	0.33311	1.896000	0.39789	0.813000	0.34350	0.482000	0.46254	ATC		0.418	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			65	435	0	0	0	1	0	65	435				
LIN7C	55327	broad.mit.edu	37	11	27528444	27528444	+	5'Flank	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27528444G>T	ENST00000278193.2	-	0	0				BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA|LIN7C_ENST00000524596.1_5'Flank|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499008.3_RNA	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)						exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)			endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCGGCCATCAGGGTAAGGGTA	0.652																																						ENST00000499008.3																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:27528444G>T	AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"""LIN-7 protein 3"""	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9			11.37:g.27528444G>T	Exception_encountered					BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000532965.1_RNA		NR_002832.2						0	46	+									RNA	SNP	ENST00000278193.2	37		CCDS7864.1																																																																																				0.652	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388311.2	NM_018362		10	59	1	0	2.74318e-10	1	2.90674e-10	10	59				
MTMR7	9108	broad.mit.edu	37	8	17228582	17228582	+	Missense_Mutation	SNP	C	C	T	rs527918462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17228582C>T	ENST00000180173.5	-	3	308	c.274G>A	c.(274-276)Gac>Aac	p.D92N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	92					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.D92N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATGTACACGTCGTGGCAATCT	0.463																																						ENST00000180173.5																			1	Substitution - Missense(1)	p.D92N(1)	skin(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(274-276)Gac>Aac		myotubularin related protein 7							144.0	131.0	135.0					8																	17228582		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17228582C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.274G>A	8.37:g.17228582C>T	ENSP00000180173:p.Asp92Asn					MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	p.D92N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	3	308	-			92					A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.274G>A	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542767	0.45280	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.82526	-1.62;-1.62	5.23	5.23	0.72850	.	0.092239	0.64402	N	0.000001	T	0.78997	0.4372	L	0.41961	1.31	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.72554	-0.4258	10	0.25106	T	0.35	.	19.1829	0.93630	0.0:1.0:0.0:0.0	.	92	Q9Y216	MTMR7_HUMAN	N	92	ENSP00000180173:D92N;ENSP00000429733:D92N	ENSP00000180173:D92N	D	-	1	0	MTMR7	17272953	1.000000	0.71417	0.280000	0.24747	0.455000	0.32408	4.592000	0.61027	2.602000	0.87976	0.655000	0.94253	GAC		0.463	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		30	405	0	0	0	1	0	30	405				
FAM83G	644815	broad.mit.edu	37	17	18881682	18881682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881682C>T	ENST00000388995.6	-	5	1520	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	433					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATGTTGGGGTCGATGATATTG	0.612																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1297-1299)Gac>Aac		family with sequence similarity 83, member G							22.0	27.0	25.0					17																	18881682		2111	4226	6337	SO:0001583	missense	644815							g.chr17:18881682C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1297G>A	17.37:g.18881682C>T	ENSP00000373647:p.Asp433Asn					FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron	p.D433N			A6ND36	FA83G_HUMAN			5	1520	-			433					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1297G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249984	0.95305	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.20332	2.08;2.08	5.59	5.59	0.84812	.	0.120838	0.56097	D	0.000038	T	0.49558	0.1564	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.40997	-0.9533	10	0.45353	T	0.12	-40.7309	19.5945	0.95530	0.0:1.0:0.0:0.0	.	433	A6ND36	FA83G_HUMAN	N	433	ENSP00000373647:D433N;ENSP00000343279:D433N	ENSP00000343279:D433N	D	-	1	0	FAM83G	18822407	1.000000	0.71417	0.990000	0.47175	0.931000	0.56810	7.158000	0.77470	2.642000	0.89623	0.561000	0.74099	GAC		0.612	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			11	52	0	0	0	1	0	11	52				
SATB1	6304	broad.mit.edu	37	3	18462353	18462353	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18462353T>C	ENST00000338745.6	-	2	1841	c.107A>G	c.(106-108)aAc>aGc	p.N36S	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Missense_Mutation_p.N36S|SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|SATB1_ENST00000417717.2_Missense_Mutation_p.N36S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	36					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CGGGCTCCCGTTCTGCTCCAG	0.512																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(106-108)aAc>aGc		SATB homeobox 1							135.0	140.0	138.0					3																	18462353		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18462353T>C		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.107A>G	3.37:g.18462353T>C	ENSP00000341024:p.Asn36Ser					SATB1_ENST00000417717.2_Missense_Mutation_p.N36S|SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Missense_Mutation_p.N36S	p.N36S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			2	1841	-			36					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.107A>G	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699728	0.88924	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509;ENST00000444341	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.74	5.74	0.90152	.	0.044474	0.85682	D	0.000000	T	0.77532	0.4144	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.917	T	0.79708	-0.1690	10	0.87932	D	0	-19.257	16.0363	0.80631	0.0:0.0:0.0:1.0	.	36;36	Q01826-2;Q01826	.;SATB1_HUMAN	S	36	ENSP00000341024:N36S;ENSP00000399708:N36S;ENSP00000399518:N36S;ENSP00000402982:N36S;ENSP00000406727:N36S;ENSP00000390529:N36S;ENSP00000398072:N36S;ENSP00000408871:N36S;ENSP00000391344:N36S	ENSP00000341024:N36S	N	-	2	0	SATB1	18437357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.193000	0.70182	0.460000	0.39030	AAC		0.512	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		143	654	0	0	0	1	0	143	654				
KCNS3	3790	broad.mit.edu	37	2	18113720	18113720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18113720C>T	ENST00000403915.1	+	3	1896	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	482					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTTGTAACACCACCTCCTTG	0.453																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1444-1446)aCc>aTc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							84.0	80.0	81.0					2																	18113720		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113720C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1445C>T	2.37:g.18113720C>T	ENSP00000385968:p.Thr482Ile					KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I|KCNS3_ENST00000465292.1_Intron	p.T482I			Q9BQ31	KCNS3_HUMAN			3	1896	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		482					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.1445C>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	2.457	-0.325134	0.05350	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97041	-4.22;-4.22	5.91	1.86	0.25419	.	1.066720	0.07169	N	0.852063	D	0.94456	0.8216	L	0.51422	1.61	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	D	0.85296	0.1070	10	0.38643	T	0.18	.	6.756	0.23514	0.0:0.7048:0.1209:0.1743	.	482	Q9BQ31	KCNS3_HUMAN	I	482	ENSP00000385968:T482I;ENSP00000305824:T482I	ENSP00000305824:T482I	T	+	2	0	KCNS3	17977201	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	0.290000	0.18975	0.052000	0.16007	0.655000	0.94253	ACC		0.453	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		115	285	0	0	0	1	0	115	285				
ENPP7	339221	broad.mit.edu	37	17	77711769	77711769	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711769C>A	ENST00000328313.5	+	5	1522	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAAGATCTGCTCTCCCGCCC	0.597																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1300-1302)gCt>gAt		ectonucleotide pyrophosphatase/phosphodiesterase 7							109.0	98.0	102.0					17																	77711769		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77711769C>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1301C>A	17.37:g.77711769C>A	ENSP00000332656:p.Ala434Asp						p.A434D	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1522	+			434						Missense_Mutation	SNP	ENST00000328313.5	37	c.1301C>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	4.545	0.101210	0.08731	.	.	ENSG00000182156	ENST00000328313	T	0.74106	-0.81	2.32	2.32	0.28847	.	1.464090	0.05503	U	0.558779	T	0.53077	0.1774	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.38954	0.286	T	0.50499	-0.8821	10	0.33141	T	0.24	.	8.2235	0.31556	0.0:1.0:0.0:0.0	.	434	Q6UWV6	ENPP7_HUMAN	D	434	ENSP00000332656:A434D	ENSP00000332656:A434D	A	+	2	0	ENPP7	75326364	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	1.075000	0.30716	1.609000	0.50190	0.462000	0.41574	GCT		0.597	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		18	542	1	0	5.03518e-11	1	5.3609e-11	18	542				
COMP	1311	broad.mit.edu	37	19	18901411	18901411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901411G>A	ENST00000222271.2	-	3	221	c.177C>T	c.(175-177)atC>atT	p.I59I	COMP_ENST00000542601.2_Silent_p.I26I|COMP_ENST00000425807.1_Silent_p.I59I	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	59	COMP N-terminal.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.I59I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGAACGTGATCTCCCTGA	0.622																																						ENST00000542601.2																			1	Substitution - coding silent(1)	p.I59I(1)	kidney(1)	breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(76-78)atC>atT		cartilage oligomeric matrix protein							181.0	189.0	186.0					19																	18901411		2203	4300	6503	SO:0001819	synonymous_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18901411G>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.177C>T	19.37:g.18901411G>A						COMP_ENST00000425807.1_Silent_p.I59I|COMP_ENST00000222271.2_Silent_p.I59I	p.I26I			P49747	COMP_HUMAN			2	467	-			59			COMP N-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	c.78C>T	CCDS12385.1																																																																																				0.622	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		258	1339	0	0	0	1	0	258	1339				
PIKFYVE	200576	broad.mit.edu	37	2	209180055	209180055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209180055G>T	ENST00000264380.4	+	15	2123	c.1965G>T	c.(1963-1965)caG>caT	p.Q655H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	655					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCAAGAACCAGGATGATGACA	0.448																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(1963-1965)caG>caT		phosphoinositide kinase, FYVE finger containing							129.0	102.0	111.0					2																	209180055		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209180055G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1965G>T	2.37:g.209180055G>T	ENSP00000264380:p.Gln655His						p.Q655H	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			15	2123	+			655					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.1965G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397805	0.42512	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.13901	2.55;2.55	5.85	4.0	0.46444	.	0.217092	0.37623	N	0.002001	T	0.10809	0.0264	L	0.27053	0.805	0.80722	D	1	B;B	0.30793	0.196;0.295	B;B	0.38156	0.183;0.266	T	0.15150	-1.0447	10	0.45353	T	0.12	-5.7273	5.2577	0.15555	0.1663:0.0:0.6435:0.1902	.	655;599	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	H	655;231;599	ENSP00000264380:Q655H;ENSP00000405736:Q599H	ENSP00000264380:Q655H	Q	+	3	2	PIKFYVE	208888300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.472000	0.35376	1.403000	0.46800	0.585000	0.79938	CAG		0.448	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		9	276	1	0	1.76689e-08	1	1.84553e-08	9	276				
MOG	4340	broad.mit.edu	37	6	29641220	29641220	+	IGR	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29641220C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.R203H|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203H|ZFP57_ENST00000488757.1_Missense_Mutation_p.R223H	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AAGATGCATGCGTCTGTGATA	0.537																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(607-609)cGc>cAc		ZFP57 zinc finger protein							90.0	101.0	97.0					6																	29641220		1356	2606	3962	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641220C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641220C>T						ZFP57_ENST00000488757.1_Missense_Mutation_p.R223H|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203H	p.R203H			Q9NU63	ZFP57_HUMAN			6	1019	-			139					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.608G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	5.368	0.253145	0.10185	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.25749	1.78;1.78;1.78	4.4	2.54	0.30619	.	0.531595	0.15970	N	0.235819	T	0.12178	0.0296	M	0.82517	2.595	0.09310	N	1	P;P	0.50617	0.937;0.937	B;B	0.34346	0.18;0.18	T	0.10989	-1.0606	10	0.87932	D	0	-10.225	7.4085	0.27004	0.0:0.723:0.1784:0.0986	.	223;203	Q9NU63-3;Q9NU63-2	.;.	H	223;203;203	ENSP00000418259:R223H;ENSP00000366078:R203H;ENSP00000366080:R203H	ENSP00000366078:R203H	R	-	2	0	ZFP57	29749199	0.000000	0.05858	0.016000	0.15963	0.029000	0.11900	0.106000	0.15354	0.563000	0.29222	0.650000	0.86243	CGC		0.537	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		77	320	0	0	0	1	0	77	320				
RALBP1	10928	broad.mit.edu	37	18	9535870	9535870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9535870C>T	ENST00000019317.4	+	10	2126	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S			Q15311	RBP1_HUMAN	ralA binding protein 1	635					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TAAAGAGCAGCCAAAGGCAGG	0.657																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(1903-1905)Cca>Tca		ralA binding protein 1							21.0	23.0	22.0					18																	9535870		2199	4296	6495	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9535870C>T	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1903C>T	18.37:g.9535870C>T	ENSP00000019317:p.Pro635Ser					RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S	p.P635S			Q15311	RBP1_HUMAN			10	2126	+			635					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.1903C>T	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489420	0.64074	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.09445	2.98;2.98	4.0	4.0	0.46444	.	0.314786	0.27922	N	0.017318	T	0.12475	0.0303	L	0.43152	1.355	0.46749	D	0.999188	B	0.23058	0.079	B	0.21917	0.037	T	0.07731	-1.0757	10	0.59425	D	0.04	-9.5647	16.4737	0.84125	0.0:1.0:0.0:0.0	.	635	Q15311	RBP1_HUMAN	S	635	ENSP00000019317:P635S;ENSP00000372924:P635S	ENSP00000019317:P635S	P	+	1	0	RALBP1	9525870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.200000	0.58433	1.940000	0.56252	0.561000	0.74099	CCA		0.657	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		34	123	0	0	0	1	0	34	123				
NFATC4	4776	broad.mit.edu	37	14	24843013	24843013	+	Missense_Mutation	SNP	G	G	A	rs374808156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843013G>A	ENST00000250373.4	+	5	1813	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000413692.2_Missense_Mutation_p.V621M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000555802.1_5'Flank	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	558	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCGGGTACACGTGCCCCAGGG	0.592																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1861-1863)Gtg>Atg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							81.0	74.0	77.0					14																	24843013		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24843013G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1672G>A	14.37:g.24843013G>A	ENSP00000250373:p.Val558Met					NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000250373.4_Missense_Mutation_p.V558M|NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M	p.V621M	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	6	2005	+			558			IPT/TIG.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1861G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939180	0.73557	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.99	4.99	0.66335	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.070256	0.56097	D	0.000027	T	0.59918	0.2229	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.70716	0.822;0.934;0.95;0.934;0.95;0.966;0.934;0.934;0.934;0.934;0.95;0.966;0.966;0.95;0.97	T	0.62685	-0.6802	10	0.87932	D	0	-5.9858	15.8129	0.78578	0.0:0.0:1.0:0.0	.	546;546;590;590;571;571;571;621;621;546;488;590;535;621;558	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	M	621;621;571;571;571;590;590;590;558;558;558;488;488;488;546;488;546;546;93;93;93	ENSP00000388910:V621M;ENSP00000452039:V621M;ENSP00000451224:V571M;ENSP00000450644:V571M;ENSP00000388668:V571M;ENSP00000439350:V590M;ENSP00000452270:V590M;ENSP00000451502:V590M;ENSP00000451151:V558M;ENSP00000250373:V558M;ENSP00000450590:V558M;ENSP00000452349:V488M;ENSP00000450469:V488M;ENSP00000450733:V488M;ENSP00000451454:V546M;ENSP00000451284:V488M;ENSP00000396788:V546M;ENSP00000450686:V546M;ENSP00000450810:V93M;ENSP00000451183:V93M;ENSP00000451395:V93M	ENSP00000250373:V558M	V	+	1	0	NFATC4	23912853	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.841000	0.48223	2.573000	0.86826	0.655000	0.94253	GTG		0.592	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		100	350	0	0	0	1	0	100	350				
FBXL7	23194	broad.mit.edu	37	5	15936593	15936593	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936593G>T	ENST00000504595.1	+	4	1255	c.774G>T	c.(772-774)cgG>cgT	p.R258R	FBXL7_ENST00000329673.7_Silent_p.R246R|FBXL7_ENST00000510662.1_Silent_p.R211R|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTTGACCCGGGAGGCCTCCA	0.577																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(772-774)cgG>cgT		F-box and leucine-rich repeat protein 7							55.0	55.0	55.0					5																	15936593		2112	4222	6334	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936593G>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.774G>T	5.37:g.15936593G>T						FBXL7_ENST00000329673.7_Silent_p.R246R|FBXL7_ENST00000510662.1_Silent_p.R211R	p.R258R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1255	+			258					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.774G>T	CCDS54833.1																																																																																				0.577	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		29	172	1	0	2.4375e-19	1	2.7179e-19	29	172				
COL6A6	131873	broad.mit.edu	37	3	130292992	130292992	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130292992T>C	ENST00000358511.6	+	7	3201	c.3170T>C	c.(3169-3171)tTc>tCc	p.F1057S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1057	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGGGAACTTTCATAGGTGAA	0.453																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3169-3171)tTc>tCc		collagen, type VI, alpha 6							61.0	59.0	59.0					3																	130292992		1866	4114	5980	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130292992T>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3170T>C	3.37:g.130292992T>C	ENSP00000351310:p.Phe1057Ser					COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	p.F1057S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			7	3201	+			1057			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3170T>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	0.928	-0.713765	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83673	-1.75;-1.75	5.15	-0.485	0.12067	von Willebrand factor, type A (3);	0.310046	0.28161	N	0.016375	T	0.71459	0.3342	M	0.64676	1.99	0.09310	N	1	B	0.25850	0.136	B	0.21151	0.033	T	0.53464	-0.8435	10	0.10636	T	0.68	.	4.4914	0.11815	0.4938:0.1419:0.0:0.3644	.	1057	A6NMZ7	CO6A6_HUMAN	S	1057	ENSP00000351310:F1057S;ENSP00000399236:F1057S	ENSP00000351310:F1057S	F	+	2	0	COL6A6	131775682	0.004000	0.15560	0.000000	0.03702	0.021000	0.10359	0.469000	0.22067	-0.240000	0.09696	-0.496000	0.04628	TTC		0.453	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		55	181	0	0	0	1	0	55	181				
NSUN4	387338	broad.mit.edu	37	1	46827478	46827478	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827478T>C	ENST00000474844.1	+	6	1765	c.1115T>C	c.(1114-1116)tTt>tCt	p.F372S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	372					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					ATGGCCAATTTTGGCCCCATG	0.453																																						ENST00000474844.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(1114-1116)tTt>tCt		NOP2/Sun domain family, member 4							141.0	132.0	135.0					1																	46827478		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46827478T>C	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.1115T>C	1.37:g.46827478T>C	ENSP00000419740:p.Phe372Ser					NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S	p.F372S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN			6	1765	+	Acute lymphoblastic leukemia(166;0.155)		372					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.1115T>C	CCDS534.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805739	0.70682	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.09073	3.02;3.02;3.02	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.71414	0.973;0.889	T	0.02464	-1.1155	10	0.51188	T	0.08	-16.6586	15.6414	0.77006	0.0:0.0:0.0:1.0	.	239;372	B3KUM0;Q96CB9	.;NSUN4_HUMAN	S	372;323;323	ENSP00000419740:F372S;ENSP00000438912:F323S;ENSP00000437758:F323S	ENSP00000419740:F372S	F	+	2	0	NSUN4	46600065	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.075000	0.71261	2.279000	0.76181	0.533000	0.62120	TTT		0.453	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		44	193	0	0	0	1	0	44	193				
LIPJ	142910	broad.mit.edu	37	10	90356605	90356605	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90356605C>T	ENST00000371939.3	+	8	949	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	212					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTCATTGGTTCAAAGCTGTGT	0.308																																						ENST00000371939.3																			0				large_intestine(4)|lung(4)|ovary(1)	9						c.(634-636)tCa>tTa		lipase, family member J							74.0	87.0	82.0					10																	90356605		2203	4294	6497	SO:0001583	missense	142910				lipid catabolic process		hydrolase activity	g.chr10:90356605C>T	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.635C>T	10.37:g.90356605C>T	ENSP00000361007:p.Ser212Leu						p.S212L	NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	8	949	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	212					A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	c.635C>T	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895376	0.33442	.	.	ENSG00000204022	ENST00000371939	T	0.64991	-0.13	4.12	3.21	0.36854	Alpha/beta hydrolase fold-1 (1);	1.015460	0.07928	N	0.977014	T	0.50922	0.1644	L	0.31157	0.91	0.09310	N	0.999999	B	0.02656	0.0	B	0.12837	0.008	T	0.36383	-0.9750	10	0.27785	T	0.31	-32.74	11.1249	0.48312	0.0:0.9061:0.0:0.0939	.	212	Q5W064	LIPJ_HUMAN	L	212	ENSP00000361007:S212L	ENSP00000361007:S212L	S	+	2	0	LIPJ	90346585	0.002000	0.14202	0.044000	0.18714	0.241000	0.25554	1.670000	0.37502	1.092000	0.41356	0.585000	0.79938	TCA		0.308	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		106	446	0	0	0	1	0	106	446				
PCDHB14	56122	broad.mit.edu	37	5	140604719	140604719	+	Missense_Mutation	SNP	C	C	T	rs150404611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604719C>T	ENST00000239449.4	+	1	1642	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1642-1644)Cgc>Tgc									36.0	40.0	39.0					5																	140604719		2202	4297	6499	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604719C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1642C>T	5.37:g.140604719C>T	ENSP00000239449:p.Arg548Cys					PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	p.R548C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1642	+			548			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1642C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	18.25	3.581771	0.65992	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	4.15	0.48705	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.09862	0.0242	M	0.81802	2.56	0.40766	D	0.983045	D	0.89917	1.0	D	0.85130	0.997	T	0.00565	-1.1668	9	0.87932	D	0	.	11.7144	0.51643	0.1769:0.8231:0.0:0.0	.	548	Q9Y5E9	PCDBE_HUMAN	C	395;548	ENSP00000444518:R395C;ENSP00000239449:R548C	ENSP00000239449:R548C	R	+	1	0	PCDHB14	140584903	0.005000	0.15991	1.000000	0.80357	0.992000	0.81027	0.383000	0.20651	2.048000	0.60808	0.556000	0.70494	CGC		0.706	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		50	446	0	0	0	1	0	50	446				
SFRP4	6424	broad.mit.edu	37	7	37955920	37955920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37955920G>A	ENST00000436072.2	-	1	597	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	74	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGAAGAAGCGCAGCACGGCG	0.637																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(220-222)Cgc>Tgc		secreted frizzled-related protein 4							146.0	116.0	126.0					7																	37955920		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955920G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.220C>T	7.37:g.37955920G>A	ENSP00000410715:p.Arg74Cys					EPDR1_ENST00000476620.1_Intron	p.R74C	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	597	-			74			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.220C>T	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922280	0.73213	.	.	ENSG00000106483	ENST00000436072	T	0.76839	-1.05	4.36	4.36	0.52297	Frizzled domain (5);	0.129212	0.53938	D	0.000042	D	0.85383	0.5684	M	0.78801	2.425	0.41915	D	0.990483	D	0.69078	0.997	P	0.61592	0.891	D	0.87268	0.2284	10	0.66056	D	0.02	.	12.3128	0.54938	0.0:0.1722:0.8278:0.0	.	74	Q6FHJ7	SFRP4_HUMAN	C	74	ENSP00000410715:R74C	ENSP00000410715:R74C	R	-	1	0	SFRP4	37922445	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.048000	0.49862	2.251000	0.74343	0.650000	0.86243	CGC		0.637	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		38	283	0	0	0	1	0	38	283				
PARP1	142	broad.mit.edu	37	1	226566902	226566902	+	Silent	SNP	G	G	A	rs534105862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226566902G>A	ENST00000366794.5	-	12	1829	c.1686C>T	c.(1684-1686)atC>atT	p.I562I		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	562					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCCTTTAACGATGTCCACCA	0.537								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					G|||	1	0.000199681	0.0	0.0	5008	,	,		22184	0.001		0.0	False		,,,				2504	0.0					ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1684-1686)atC>atT	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							213.0	186.0	195.0					1																	226566902		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226566902G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1686C>T	1.37:g.226566902G>A							p.I562I	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	12	1829	-	Breast(184;0.133)		562					B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.1686C>T	CCDS1554.1																																																																																				0.537	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		193	558	0	0	0	1	0	193	558				
RNF126	55658	broad.mit.edu	37	19	651781	651781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:651781G>A	ENST00000292363.5	-	4	428	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGATCTCGAAGCTGTCAT	0.677																																						ENST00000292363.5																			0				lung(1)	1						c.(271-273)ttC>ttT		ring finger protein 126							47.0	42.0	44.0					19																	651781		2203	4300	6503	SO:0001819	synonymous_variant	55658						protein binding|zinc ion binding	g.chr19:651781G>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.273C>T	19.37:g.651781G>A							p.F91F	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	428	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	91						Silent	SNP	ENST00000292363.5	37	c.273C>T	CCDS12039.1																																																																																				0.677	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		42	205	0	0	0	1	0	42	205				
KLF10	7071	broad.mit.edu	37	8	103663511	103663511	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103663511A>C	ENST00000285407.6	-	3	1349	c.1049T>G	c.(1048-1050)tTt>tGt	p.F350C	KLF10_ENST00000395884.3_Missense_Mutation_p.F339C	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	350					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAAGGGGAAAACCCAGGAGC	0.517																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(1015-1017)tTt>tGt		Kruppel-like factor 10							82.0	93.0	89.0					8																	103663511		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103663511A>C	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1049T>G	8.37:g.103663511A>C	ENSP00000285407:p.Phe350Cys					KLF10_ENST00000285407.6_Missense_Mutation_p.F350C	p.F339C	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		3	1918	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		350					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.1016T>G	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690749	0.48097	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14640	2.49;2.56	5.5	5.5	0.81552	.	0.151335	0.47852	D	0.000211	T	0.23370	0.0565	M	0.64997	1.995	0.09310	N	1	B;D	0.61080	0.066;0.989	B;P	0.49361	0.041;0.608	T	0.13124	-1.0521	10	0.30854	T	0.27	.	15.9091	0.79456	1.0:0.0:0.0:0.0	.	350;339	Q13118;O75411	KLF10_HUMAN;.	C	350;339	ENSP00000285407:F350C;ENSP00000379222:F339C	ENSP00000285407:F350C	F	-	2	0	KLF10	103732687	0.947000	0.32204	0.187000	0.23214	0.987000	0.75469	3.309000	0.51903	2.209000	0.71365	0.533000	0.62120	TTT		0.517	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			95	397	0	0	0	1	0	95	397				
GOLPH3L	55204	broad.mit.edu	37	1	150620874	150620874	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150620874C>T	ENST00000271732.3	-	5	825	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	261					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTCAGGGTCCAGTTCTACT	0.488																																						ENST00000271732.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(781-783)Gac>Aac		golgi phosphoprotein 3-like							131.0	121.0	125.0					1																	150620874		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150620874C>T	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.781G>A	1.37:g.150620874C>T	ENSP00000271732:p.Asp261Asn					GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	p.D261N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	825	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		261					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.781G>A	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851878	0.71719	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514	.	.	.	5.44	4.49	0.54785	.	0.054669	0.64402	D	0.000001	T	0.60612	0.2282	M	0.91768	3.24	0.52501	D	0.999956	P;B	0.38729	0.644;0.002	B;B	0.40444	0.329;0.001	T	0.69461	-0.5139	9	0.54805	T	0.06	-15.6672	8.8888	0.35420	0.1512:0.7702:0.0:0.0786	.	217;261	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	N	261;283;217	.	ENSP00000271732:D261N	D	-	1	0	GOLPH3L	148887498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.454000	0.60068	2.832000	0.97577	0.655000	0.94253	GAC		0.488	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		117	364	0	0	0	1	0	117	364				
NIFK	84365	broad.mit.edu	37	2	122489716	122489716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122489716G>T	ENST00000285814.4	-	3	380	c.308C>A	c.(307-309)gCt>gAt	p.A103D		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		103	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CATTGTTTCAGCAACTATTTT	0.463																																						ENST00000285814.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(307-309)gCt>gAt									95.0	84.0	88.0					2																	122489716		2203	4300	6503	SO:0001583	missense	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122489716G>T																												ENST00000285814.4:c.308C>A	2.37:g.122489716G>T	ENSP00000285814:p.Ala103Asp						p.A103D	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			3	380	-			103			RRM.		A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.308C>A	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165049	0.78339	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000451734	T;T	0.16457	2.34;2.34	5.14	4.25	0.50352	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048198	0.85682	D	0.000000	T	0.51415	0.1673	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63528	-0.6617	10	0.87932	D	0	-17.7292	11.7232	0.51693	0.0:0.1781:0.8219:0.0	.	103;103	B4DSM4;Q9BYG3	.;MK67I_HUMAN	D	103;103;71	ENSP00000285814:A103D;ENSP00000398116:A71D	ENSP00000285814:A103D	A	-	2	0	MKI67IP	122206186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.265000	0.65519	1.153000	0.42468	0.655000	0.94253	GCT		0.463	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			27	340	1	0	2.85442e-18	1	3.16582e-18	27	340				
KRTAP13-4	284827	broad.mit.edu	37	21	31802628	31802628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31802628C>T	ENST00000334068.2	+	1	57	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	12						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						AACTTCTCCTCCCGCTCCTTT	0.547																																					NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(34-36)tCc>tTc		keratin associated protein 13-4							110.0	112.0	111.0					21																	31802628		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802628C>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.35C>T	21.37:g.31802628C>T	ENSP00000334834:p.Ser12Phe						p.S12F	NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN			1	57	+			12					A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.35C>T	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	13.03	2.114494	0.37339	.	.	ENSG00000186971	ENST00000334068	T	0.09255	3.0	4.95	4.07	0.47477	.	0.174955	0.27052	U	0.021169	T	0.35941	0.0949	M	0.88450	2.955	0.30548	N	0.765701	D	0.89917	1.0	D	0.77004	0.989	T	0.45673	-0.9245	10	0.87932	D	0	.	10.1859	0.42998	0.0:0.9051:0.0:0.0949	.	12	Q3LI77	KR134_HUMAN	F	12	ENSP00000334834:S12F	ENSP00000334834:S12F	S	+	2	0	KRTAP13-4	30724499	0.030000	0.19436	0.837000	0.33122	0.029000	0.11900	1.872000	0.39549	1.394000	0.46624	0.650000	0.86243	TCC		0.547	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			133	511	0	0	0	1	0	133	511				
XKR9	389668	broad.mit.edu	37	8	71619372	71619372	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71619372A>C	ENST00000408926.3	+	4	1011	c.477A>C	c.(475-477)caA>caC	p.Q159H	XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	159						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGCATGGACAAGCGAATTTCA	0.398																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(475-477)caA>caC		XK, Kell blood group complex subunit-related family, member 9							135.0	124.0	128.0					8																	71619372		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71619372A>C	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.477A>C	8.37:g.71619372A>C	ENSP00000386141:p.Gln159His					XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H	p.Q159H	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	1011	+	Breast(64;0.0716)		159					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.477A>C	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	A	7.060	0.566116	0.13560	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64803	-0.12;-0.12	5.03	2.7	0.31948	.	0.643829	0.15516	N	0.258289	T	0.48352	0.1495	L	0.53249	1.67	0.09310	N	1	P	0.38223	0.623	B	0.36186	0.219	T	0.45440	-0.9261	10	0.39692	T	0.17	-0.0441	0.6152	0.00768	0.4631:0.1745:0.1943:0.1681	.	159	Q5GH70	XKR9_HUMAN	H	159	ENSP00000386141:Q159H;ENSP00000431088:Q159H	ENSP00000386141:Q159H	Q	+	3	2	XKR9	71781926	0.009000	0.17119	0.011000	0.14972	0.479000	0.33129	0.593000	0.23999	0.781000	0.33589	0.460000	0.39030	CAA		0.398	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		15	402	0	0	0	1	0	15	402				
SLC39A7	7922	broad.mit.edu	37	6	33170375	33170375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33170375G>T	ENST00000374677.3	+	5	1211	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	280			E -> G (in dbSNP:rs1048778). {ECO:0000269|PubMed:8812499, ECO:0000269|Ref.2}.		transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGAGGAAGAAGAAAAGGAAAC	0.502																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(838-840)Gaa>Taa		solute carrier family 39 (zinc transporter), member 7							71.0	72.0	71.0					6																	33170375		1216	2516	3732	SO:0001587	stop_gained	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33170375G>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.838G>T	6.37:g.33170375G>T	ENSP00000363809:p.Glu280*					SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*	p.E280*	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			5	1211	+			280		E -> G (in dbSNP:rs1048778).			B0UXF6|Q5STP8|Q9UIQ0	Nonsense_Mutation	SNP	ENST00000374677.3	37	c.838G>T	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313466	0.95655	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	.	.	.	4.26	4.26	0.50523	.	0.350125	0.26383	N	0.024686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	3.3686	12.0355	0.53423	0.0:0.0:1.0:0.0	.	.	.	.	X	190;280;261;185;280	.	ENSP00000363807:E280X	E	+	1	0	SLC39A7	33278353	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.859000	0.69539	2.209000	0.71365	0.549000	0.68633	GAA		0.502	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		63	235	1	0	1.87469e-40	1	2.27324e-40	63	235				
MTFMT	123263	broad.mit.edu	37	15	65316129	65316129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65316129G>A	ENST00000220058.4	-	3	436	c.423C>T	c.(421-423)ggC>ggT	p.G141G	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	141						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CATTCAATATGCCACTGAGTT	0.433																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(421-423)ggC>ggT		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						63.0	61.0	61.0					15																	65316129		1917	4130	6047	SO:0001819	synonymous_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65316129G>A	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.423C>T	15.37:g.65316129G>A						MTFMT_ENST00000561025.1_Intron	p.G141G	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			3	436	-			141					B7Z734	Silent	SNP	ENST00000220058.4	37	c.423C>T	CCDS45280.1																																																																																				0.433	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		39	108	0	0	0	1	0	39	108				
GRID1	2894	broad.mit.edu	37	10	88123711	88123711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88123711C>A	ENST00000327946.7	-	2	307	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	74					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTGCACAGCCTGGAATGGGT	0.627										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(220-222)caG>caT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						242.0	154.0	183.0					10																	88123711		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:88123711C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.222G>T	10.37:g.88123711C>A	ENSP00000330148:p.Gln74His	Multiple Myeloma(13;0.14)					p.Q74H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			2	307	-			74					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.222G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477742	0.44044	.	.	ENSG00000182771	ENST00000327946	D	0.83163	-1.69	4.96	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.194154	0.33382	N	0.004973	T	0.69895	0.3162	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60667	-0.7218	10	0.25106	T	0.35	.	5.0502	0.14505	0.1782:0.6465:0.0:0.1754	.	74	Q9ULK0	GRID1_HUMAN	H	74	ENSP00000330148:Q74H	ENSP00000330148:Q74H	Q	-	3	2	GRID1	88113691	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.223000	0.58587	1.087000	0.41251	-0.347000	0.07816	CAG		0.627	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		47	295	1	0	2.13883e-14	1	2.32436e-14	47	295				
IGDCC3	9543	broad.mit.edu	37	15	65623869	65623869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65623869G>T	ENST00000327987.4	-	8	1528	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	426	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGGGGAGGCCCGGGGAG	0.622																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1276-1278)cCt>cAt		immunoglobulin superfamily, DCC subclass, member 3							36.0	36.0	36.0					15																	65623869		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65623869G>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1277C>A	15.37:g.65623869G>T	ENSP00000332773:p.Pro426His					IGDCC3_ENST00000559231.1_5'UTR	p.P426H	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			8	1528	-			426			Fibronectin type-III 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1277C>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861591	0.51482	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.59906	0.23	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215894	0.41605	D	0.000857	T	0.78880	0.4353	M	0.85777	2.775	0.46849	D	0.999225	D	0.71674	0.998	D	0.70487	0.969	T	0.83357	-0.0000	10	0.87932	D	0	-10.6279	18.1374	0.89624	0.0:0.0:1.0:0.0	.	426	Q8IVU1	IGDC3_HUMAN	H	426;289	ENSP00000332773:P426H	ENSP00000332773:P426H	P	-	2	0	IGDCC3	63410922	1.000000	0.71417	0.948000	0.38648	0.318000	0.28184	4.402000	0.59722	2.241000	0.73720	0.655000	0.94253	CCT		0.622	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		43	138	1	0	6.1207e-33	1	7.24336e-33	43	138				
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		7	786						7	786	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			7	719						7	719	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		15	323						15	323	---	---	---	---
LRRC53	100144878	broad.mit.edu	37	1	74957824	74957826	+	Intron	DEL	CTT	CTT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1.0			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			9	1062						9	1062	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91727847	91727848	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91727847_91727848insT	ENST00000370425.3	-	38	4286_4287	c.4188_4189insA	c.(4186-4191)aaagtgfs	p.V1397fs	HFM1_ENST00000370424.3_Frame_Shift_Ins_p.V1076fs|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_3'UTR|Y_RNA_ENST00000384090.1_RNA	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1397					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAAAATCCACTTTTTTATAAT	0.272																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(4186-4191)aatggafs		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91727847_91727848insT	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4189dupA	1.37:g.91727853_91727853dupT	ENSP00000359454:p.Val1397fs					HFM1_ENST00000370424.3_Frame_Shift_Ins_p.NG1075fs|HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000462405.1_5'UTR	p.NG1396fs	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	38	4286_4287	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1396					B1B0B6|Q8N9Q0	Frame_Shift_Ins	INS	ENST00000370425.3	37	c.4188_4189insA	CCDS30769.2																																																																																				0.272	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		19	183						19	183	---	---	---	---
GPSM2	29899	broad.mit.edu	37	1	109440714	109440715	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109440714_109440715insT	ENST00000406462.2	+	6	1321_1322	c.548_549insT	c.(547-552)gattttfs	p.DF183fs	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Frame_Shift_Ins_p.DF183fs			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	183					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GCAGCCGTGGATTTTTATGAGT	0.455																																						ENST00000406462.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14						c.(547-549)gttfs		G-protein signaling modulator 2																																				SO:0001589	frameshift_variant	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109440714_109440715insT	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.553dupT	1.37:g.109440719_109440719dupT	ENSP00000385510:p.Asp183fs					AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Frame_Shift_Ins_p.V183fs	p.V183fs			P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	6	1321_1322	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	183					Q5T1N8|Q6IBL7|Q8N0Z5	Frame_Shift_Ins	INS	ENST00000406462.2	37	c.548_549insT	CCDS792.2																																																																																				0.455	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		37	414						37	414	---	---	---	---
NBPF9	400818	broad.mit.edu	37	1	144828718	144828719	+	Frame_Shift_Ins	INS	-	-	T	rs587775961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144828718_144828719insT	ENST00000281815.8	+	13	1304_1305	c.558_559insT	c.(559-561)tttfs	p.F187fs	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Frame_Shift_Ins_p.F589fs			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	847	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGACAATAGGTTTTTTACTTT	0.446																																						ENST00000338347.4																			0				NS(2)|prostate(1)	3						c.(1762-1767)agttttfs		neuroblastoma breakpoint family, member 9																																				SO:0001589	frameshift_variant	400818							g.chr1:144828718_144828719insT		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.564dupT	1.37:g.144828724_144828724dupT	ENSP00000281815:p.Phe187fs					NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Frame_Shift_Ins_p.SF186fs|NBPF9_ENST00000468645.1_3'UTR	p.SF588fs							14	1764_1765	+									Frame_Shift_Ins	INS	ENST00000281815.8	37	c.1764_1765insT																																																																																					0.446	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		90	1350						90	1350	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		10	508						10	508	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2263-2265)ggfs		ADAMTS-like 4							41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530506delG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs					ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs	p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		758			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2263delG	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		8	962						8	962	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154067526	154067526	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154067526delA	ENST00000368559.3	-	15	2143	c.2072delT	c.(2071-2073)ttgfs	p.L691fs	NUP210L_ENST00000271854.3_Frame_Shift_Del_p.L691fs	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	691					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTCAATTCCAAAAAAAATCG	0.473																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2071-2073)tgfs		nucleoporin 210kDa-like							80.0	75.0	76.0					1																	154067526		1831	4083	5914	SO:0001589	frameshift_variant	91181					integral to membrane		g.chr1:154067526delA	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2072delT	1.37:g.154067526delA	ENSP00000357547:p.Leu691fs					NUP210L_ENST00000271854.3_Frame_Shift_Del_p.L691fs	p.L691fs	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2143	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		691					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Frame_Shift_Del	DEL	ENST00000368559.3	37	c.2072delT	CCDS41399.1																																																																																				0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		13	287						13	287	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(865-867)tcfs		interferon stimulated exonuclease gene 20kDa-like 2							82.0	86.0	85.0					1																	156694023		2203	4300	6503	SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694023delG	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.865delC	1.37:g.156694023delG	ENSP00000323424:p.Leu289fs					ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR	p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1647	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289			Exonuclease.		D3DVC6|Q64KA2	Frame_Shift_Del	DEL	ENST00000313146.6	37	c.865delC	CCDS1153.1																																																																																				0.557	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		10	602						10	602	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160134106	160134106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160134106delT	ENST00000368081.4	+	7	1410	c.939delT	c.(937-939)actfs	p.T313fs		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	313					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGGTGTCACTTTTTTTGCGC	0.537																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(937-939)acfs		ATPase, Na+/K+ transporting, alpha 4 polypeptide							350.0	288.0	309.0					1																	160134106		2203	4300	6503	SO:0001589	frameshift_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134106delT	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.939delT	1.37:g.160134106delT	ENSP00000357060:p.Thr313fs						p.T313fs	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1410	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		313					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Frame_Shift_Del	DEL	ENST00000368081.4	37	c.939delT	CCDS1197.1																																																																																				0.537	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		7	1269						7	1269	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L	RP11-544M22.8_ENST00000447167.1_RNA	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	19					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(55-60)cta>ct		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161059028_161059030delAGC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.57_59delGCT	1.37:g.161059037_161059039delAGC	ENSP00000356991:p.Leu22del						p.LL21del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	359_361	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		21					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.57_59delGCT	CCDS1216.1																																																																																				0.567	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		8	783						8	783	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		9	531						9	531	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197073231	197073232	+	Frame_Shift_Ins	INS	-	-	T	rs199422167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073231_197073232insT	ENST00000367409.4	-	18	5405_5406	c.5149_5150insA	c.(5149-5151)atafs	p.I1717fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1717					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I1717fs*1(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTGCAGCTATTTTTTTGGAA	0.371																																						ENST00000367409.4																			2	Deletion - Frameshift(2)	p.I1717fs*1(2)	ovary(1)|large_intestine(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165	GRCh37	CD077387	ASPM	D		c.(5149-5151)agcfs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)																																				SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073231_197073232insT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5150dupA	1.37:g.197073238_197073238dupT	ENSP00000356379:p.Ile1717fs					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.S1717fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5405_5406	-			1717					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	ENST00000367409.4	37	c.5149_5150insA	CCDS1389.1																																																																																				0.371	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		144	591						144	591	---	---	---	---
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1.0			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		10	221						10	221	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		12	591						12	591	---	---	---	---
PPP2R5A	5525	broad.mit.edu	37	1	212502503	212502504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212502503_212502504insT	ENST00000261461.2	+	2	782_783	c.208_209insT	c.(208-210)cttfs	p.L70fs	RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Frame_Shift_Ins_p.L13fs	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	70					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ACAACAAGAGCTTTTCTGTCAG	0.292																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(208-210)tttfs		protein phosphatase 2, regulatory subunit B', alpha																																				SO:0001589	frameshift_variant	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212502503_212502504insT	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.212dupT	1.37:g.212502507_212502507dupT	ENSP00000261461:p.Leu70fs					RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000498129.1_3'UTR|PPP2R5A_ENST00000537030.3_Frame_Shift_Ins_p.F13fs	p.F70fs	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	2	782_783	+			70					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Frame_Shift_Ins	INS	ENST00000261461.2	37	c.208_209insT	CCDS1503.1																																																																																				0.292	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		23	279						23	279	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226570820	226570820	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226570820delG	ENST00000366794.5	-	8	1219	c.1076delC	c.(1075-1077)ccafs	p.P359fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	359					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGTTTCTGGGGGGAATAT	0.502								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1075-1077)cafs	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							114.0	142.0	132.0					1																	226570820		2203	4300	6503	SO:0001589	frameshift_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226570820delG	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1076delC	1.37:g.226570820delG	ENSP00000355759:p.Pro359fs						p.P359fs	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	8	1219	-	Breast(184;0.133)		359					B1ANJ4|Q8IUZ9	Frame_Shift_Del	DEL	ENST00000366794.5	37	c.1076delC	CCDS1554.1																																																																																				0.502	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		8	2371						8	2371	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596798	228596798	+	Intron	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228596798delC	ENST00000366697.2	-	5	1840				TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000456946.2_Frame_Shift_Del_p.E320fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17						protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTGGTGGCTTCCGAGGCTAGG	0.577																																						ENST00000456946.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(958-960)aafs		tripartite motif containing 17							43.0	56.0	52.0					1																	228596798		692	1591	2283	SO:0001627	intron_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596798delC	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.883+74G>-	1.37:g.228596798delC						TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366697.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA	p.E320fs	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN			6	1333	-		Prostate(94;0.0724)	0			B30.2/SPRY.		B4DVJ2|Q5VST8	Frame_Shift_Del	DEL	ENST00000366697.2	37	c.958delG	CCDS1571.1																																																																																				0.577	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		43	211						43	211	---	---	---	---
PGBD5	79605	broad.mit.edu	37	1	230468691	230468691	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230468691delC	ENST00000525115.1	-	5	988	c.965delG	c.(964-966)ggcfs	p.G322fs	PGBD5_ENST00000391860.1_Frame_Shift_Del_p.G276fs|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000321327.2_Frame_Shift_Del_p.G421fs			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	322						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTGGTACTGGCCCCGGGCCGG	0.607																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1261-1263)gcfs		piggyBac transposable element derived 5							111.0	99.0	103.0					1																	230468691		2203	4300	6503	SO:0001589	frameshift_variant	79605					integral to membrane		g.chr1:230468691delC	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.965delG	1.37:g.230468691delC	ENSP00000431404:p.Gly322fs					PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Frame_Shift_Del_p.G276fs|PGBD5_ENST00000525115.1_Frame_Shift_Del_p.G322fs	p.G421fs			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	7	1261	-	Breast(184;0.0397)	Prostate(94;0.167)	322					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Frame_Shift_Del	DEL	ENST00000525115.1	37	c.1262delG																																																																																					0.607	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		15	307						15	307	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-	rs372045862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45.0	47.0	46.0					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		7	663						7	663	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_ENST00000319801.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000338086.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000536417.1_In_Frame_Del_p.427_428AA>A|PUM2_ENST00000403432.1_In_Frame_Del_p.483_484AA>A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1447-1452)gct>gc		pumilio RNA-binding family member 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482977_20482979delGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1449_1451delAGC	2.37:g.20482986_20482988delGCT	ENSP00000354370:p.Ala484del					PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del	p.AA483del			Q8TB72	PUM2_HUMAN			11	1471_1473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1449_1451delAGC																																																																																					0.424	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		7	492						7	492	---	---	---	---
MFSD2B	388931	broad.mit.edu	37	2	24239769	24239770	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239769_24239770insC	ENST00000406420.3	+	4	418_419	c.402_403insC	c.(403-405)cccfs	p.P135fs	MFSD2B_ENST00000338315.4_Frame_Shift_Ins_p.P135fs	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	135					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTGGTTCCTGCCCCCCTTCAC	0.668																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(400-405)ctccccfs		major facilitator superfamily domain containing 2B																																				SO:0001589	frameshift_variant	388931				transport	integral to membrane		g.chr2:24239769_24239770insC		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.408dupC	2.37:g.24239775_24239775dupC	ENSP00000385527:p.Pro135fs					MFSD2B_ENST00000406420.3_Frame_Shift_Ins_p.LP134fs	p.LP134fs			A6NFX1	MFS2B_HUMAN			4	402_403	+			134					B5MC32	Frame_Shift_Ins	INS	ENST00000406420.3	37	c.402_403insC	CCDS46228.1																																																																																				0.668	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		34	298						34	298	---	---	---	---
KIF3C	3797	broad.mit.edu	37	2	26203790	26203791	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26203790_26203791insC	ENST00000264712.3	-	1	1575_1576	c.996_997insG	c.(994-999)gggaatfs	p.N333fs	KIF3C_ENST00000405914.1_Frame_Shift_Ins_p.N333fs	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	333	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTGGCATTCCCCCCCAGGG	0.614																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(994-999)ggatgcfs		kinesin family member 3C																																				SO:0001589	frameshift_variant	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203790_26203791insC		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.997dupG	2.37:g.26203797_26203797dupC	ENSP00000264712:p.Asn333fs					KIF3C_ENST00000405914.1_Frame_Shift_Ins_p.C333fs	p.C333fs	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1575_1576	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		333			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Frame_Shift_Ins	INS	ENST00000264712.3	37	c.996_997insG	CCDS1719.1																																																																																				0.614	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			7	450						7	450	---	---	---	---
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Intron	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38178783delT	ENST00000406384.1	+	2	646				RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAGAGTGCCATTTTTTTTGAT	0.333																																						ENST00000407257.1																			0											c.(424-426)atfs		regulator of microtubule dynamics 2							67.0	73.0	71.0					2																	38178783		2195	4296	6491	SO:0001627	intron_variant	151393							g.chr2:38178783delT	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21911T>-	2.37:g.38178783delT						RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron	p.I142fs							2	572	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Frame_Shift_Del	DEL	ENST00000406384.1	37	c.425delT	CCDS54351.1																																																																																				0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		13	500						13	500	---	---	---	---
GALM	130589	broad.mit.edu	37	2	38956827	38956828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38956827_38956828insT	ENST00000272252.5	+	5	1016_1017	c.764_765insT	c.(763-768)cattttfs	p.HF255fs	GALM_ENST00000410063.1_Frame_Shift_Ins_p.HF107fs	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	255					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				AAAGAAAAGCATTTTTGTGCAA	0.426																																						ENST00000272252.5																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(763-765)cttfs		galactose mutarotase (aldose 1-epimerase)																																				SO:0001589	frameshift_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38956827_38956828insT		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.769dupT	2.37:g.38956832_38956832dupT	ENSP00000272252:p.His255fs					GALM_ENST00000410063.1_Frame_Shift_Ins_p.L107fs	p.L255fs	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN			5	1016_1017	+		all_hematologic(82;0.248)	255					Q53RY1|Q8NIA2|V9HWA8	Frame_Shift_Ins	INS	ENST00000272252.5	37	c.764_765insT	CCDS1797.1																																																																																				0.426	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		8	732						8	732	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		8	683						8	683	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894934	+	lincRNA	DEL	AA	AA	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65894933_65894934delAA	ENST00000377977.3	+	0	862				AC007389.4_ENST00000583614.1_RNA																							TCAGAGGTTTAAAAAAAAAAAA	0.52																																						ENST00000377977.3																			0																																																			0							g.chr2:65894933_65894934delAA																													2.37:g.65894943_65894944delAA														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.520	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			5	6						5	6	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71650549	71650549	+	Frame_Shift_Del	DEL	A	A	-	rs368004515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71650549delA	ENST00000409544.1	+	22	4535	c.3905delA	c.(3904-3906)gaafs	p.E1302fs	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.E242fs|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.E1302fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1302	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AATATTTCTGAAAAAAAAGGT	0.368																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(3904-3906)gafs		zinc finger protein 638							52.0	54.0	53.0					2																	71650549		2203	4299	6502	SO:0001589	frameshift_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71650549delA	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3905delA	2.37:g.71650549delA	ENSP00000386433:p.Glu1302fs					ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.E242fs|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.E1302fs	p.E1302fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			22	4535	+			1302			Glu-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Frame_Shift_Del	DEL	ENST00000409544.1	37	c.3905delA	CCDS1917.1																																																																																				0.368	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		8	262						8	262	---	---	---	---
KRCC1	51315	broad.mit.edu	37	2	88327535	88327536	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88327535_88327536insT	ENST00000347055.3	-	4	940_941	c.547_548insA	c.(547-549)agcfs	p.S183fs		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	183	Lys-rich.							p.S183fs*7(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCCTCGCAGCTTTTTTTTCTC	0.411																																						ENST00000347055.3																			1	Deletion - Frameshift(1)	p.S183fs*7(1)	lung(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(547-549)ctgfs		lysine-rich coiled-coil 1																																				SO:0001589	frameshift_variant	51315							g.chr2:88327535_88327536insT	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.548dupA	2.37:g.88327543_88327543dupT	ENSP00000340083:p.Ser183fs						p.L183fs	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	940_941	-			183			Lys-rich.		Q3B7J7	Frame_Shift_Ins	INS	ENST00000347055.3	37	c.547_548insA	CCDS2000.1																																																																																				0.411	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		11	735						11	735	---	---	---	---
MRPS5	64969	broad.mit.edu	37	2	95775728	95775728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95775728delT	ENST00000272418.2	-	4	544	c.336delA	c.(334-336)aaafs	p.K112fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	112					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCTCTTCCTTTTTTTGCTC	0.383																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(334-336)aafs		mitochondrial ribosomal protein S5							100.0	103.0	102.0					2																	95775728		2203	4300	6503	SO:0001589	frameshift_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775728delT	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.336delA	2.37:g.95775728delT	ENSP00000272418:p.Lys112fs						p.K112fs	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			4	544	-			112					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	ENST00000272418.2	37	c.336delA	CCDS2010.1																																																																																				0.383	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		9	787						9	787	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.E329fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515																																						ENST00000272542.3																			1	Deletion - Frameshift(1)	p.R332fs*14(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(982-987)ccagfs		solute carrier family 20 (phosphate transporter), member 1																																				SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416607_113416608delAG		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.984_985delAG	2.37:g.113416617_113416618delAG	ENSP00000272542:p.Glu329fs					SLC20A1_ENST00000480984.1_3'UTR	p.PE328fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1523_1524	+			328					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.984_985delAG	CCDS2099.1																																																																																				0.515	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		7	403						7	403	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106134	168106135	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168106134_168106135insA	ENST00000409195.1	+	9	8321_8322	c.8232_8233insA	c.(8233-8235)aaafs	p.K2745fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.K2523fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.K2745fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2570					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACCTTTACCAAAAAACAATA	0.347																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8230-8235)acaaaafs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106134_168106135insA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8238dupA	2.37:g.168106140_168106140dupA	ENSP00000386840:p.Lys2745fs					XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TK2522fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TK2744fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	p.TK2744fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8321_8322	+			2569					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.8232_8233insA	CCDS42769.1																																																																																				0.347	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		91	274						91	274	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aaafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(571-573)aafs		Sjogren syndrome antigen B (autoantigen La)							82.0	82.0	82.0					2																	170665008		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665008delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.571delA	2.37:g.170665008delA	ENSP00000386636:p.Lys192fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs	p.K192fs			P05455	LA_HUMAN			7	818	+			192					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.571delA	CCDS2237.1																																																																																				0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		10	283						10	283	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		8	405						8	405	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1933-1935)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437003_201437004insT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs						p.I645fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2032_2033	+			645					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1934_1935insT	CCDS42796.1																																																																																				0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		11	713						11	713	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97.0	96.0	96.0					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		10	535						10	535	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		10	2684						10	2684	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-	rs557843124	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0.0	0.0058	5008	,	,		20005	0.001		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(919-924)agg>ag		solute carrier family 4 (anion exchanger), member 3			,	46,4208		1,44,2082					,	3.4	1.0			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SO:0001651	inframe_deletion	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496799_220496801delGAA		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del					SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del	p.RK307del			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1433_1435	+		Renal(207;0.0183)	307					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL	ENST00000358055.3	37	c.921_923delGAA	CCDS2445.1																																																																																				0.650	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		8	575						8	575	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228118353	228118354	+	Splice_Site	INS	-	-	T	rs573527081	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228118353_228118354insT	ENST00000396578.3	+	13	926_927	c.764_765insT	c.(763-768)acggac>acTggac	p.D256fs	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	256	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATAACAGAACGGTAACTCTGC	0.47																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.e13+1		collagen, type IV, alpha 3 (Goodpasture antigen)																																				SO:0001630	splice_region_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118353_228118354insT		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.765+1->T	2.37:g.228118353_228118354insT						AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	p.R255_splice	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	926_927	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	255			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Splice_Site	INS	ENST00000396578.3	37	c.765_splice	CCDS42829.1																																																																																				0.470	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	Frame_Shift_Ins	7	779						7	779	---	---	---	---
NCL	4691	broad.mit.edu	37	2	232319942	232319944	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232319942_232319944delCCT	ENST00000322723.4	-	14	2331_2333	c.2091_2093delAGG	c.(2089-2094)ggaggt>ggt	p.697_698GG>G	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	697	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTTGTGGTCACCTCCTCCTCCTC	0.498																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(2089-2094)ggt>gg		nucleolin																																				SO:0001651	inframe_deletion	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232319942_232319944delCCT		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.2091_2093delAGG	2.37:g.232319951_232319953delCCT	ENSP00000318195:p.Gly698del						p.GG697del	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	14	2331_2333	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	697			Arg/Gly/Phe-rich.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	In_Frame_Del	DEL	ENST00000322723.4	37	c.2091_2093delAGG	CCDS33397.1																																																																																				0.498	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		8	730						8	730	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	EFHD1_ENST00000409613.1_In_Frame_Del_p.E126del|EFHD1_ENST00000410095.1_In_Frame_Del_p.E110del|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409708.1_In_Frame_Del_p.E110del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	222					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(652-657)cgg>cg		EF-hand domain family, member D1																																				SO:0001651	inframe_deletion	80303						calcium ion binding|protein binding	g.chr2:233546363_233546365delGGA		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.654_656delGGA	2.37:g.233546372_233546374delGGA	ENSP00000264059:p.Glu222del					EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del	p.RE218del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1131_1133	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	218					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	In_Frame_Del	DEL	ENST00000264059.3	37	c.654_656delGGA	CCDS2497.1																																																																																				0.547	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		9	660						9	660	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		7	500						7	500	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)tttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1321-1323)ttfs		ER degradation enhancer, mannosidase alpha-like 1							155.0	149.0	151.0					3																	5248941		2203	4300	6503	SO:0001589	frameshift_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5248941delT	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1321delT	3.37:g.5248941delT	ENSP00000256497:p.Phe442fs					EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	p.F442fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	7	1454	+			442					A8K9C8|B4DXP3	Frame_Shift_Del	DEL	ENST00000256497.4	37	c.1321delT	CCDS33686.1																																																																																				0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		7	613						7	613	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.E34del	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	14	329						14	329	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs201600571|rs67589576|rs138623401	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579														3310	0.660942	0.59	0.67	5008	,	,		18145	0.7738		0.5487	False		,,,				2504	0.7495					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2034,1772		688,658,557						-1.3	0.0		dbSNP_119	5	3841,3927		1184,1473,1227	no	intron	GRIP2	NM_001080423.2		1872,2131,1784	A1A1,A1R,RR		49.4464,46.5581,49.2397				5875,5699						80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555758_14555759insAGTT	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555758_14555759insAGTT										Q9C0E4	GRIP2_HUMAN			0	1558	-								Q8TEH9|Q9H7H3	RNA	INS	ENST00000273083.3	37																																																																																						0.579	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		7	15						7	15	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		7	48						7	48	---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41841755	41841756	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41841755_41841756insC	ENST00000301831.4	-	20	2340_2341	c.1878_1879insG	c.(1876-1881)gcaaaafs	p.K627fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	627					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCAATAATTTTTGCTGCCATGT	0.361																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1876-1881)gcaaatfs		unc-51 like kinase 4																																				SO:0001589	frameshift_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41841755_41841756insC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1878_1879insG	3.37:g.41841755_41841756insC	ENSP00000301831:p.Lys627fs						p.N627fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	20	2340_2341	-			627					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Ins	INS	ENST00000301831.4	37	c.1878_1879insG	CCDS43071.1																																																																																				0.361	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		22	938						22	938	---	---	---	---
ITIH4	3700	broad.mit.edu	37	3	52853933	52853933	+	Intron	DEL	C	C	-	rs371389224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52853933delC	ENST00000266041.4	-	15	2009				ITIH4_ENST00000485816.1_Intron|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.G557fs|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Intron|ITIH4_ENST00000346281.5_Intron|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4						acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AATCTCCCCTCCCCCCACCTC	0.537																																						ENST00000434759.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1669-1671)ggfs		inter-alpha-trypsin inhibitor heavy chain family, member 4							164.0	175.0	171.0					3																	52853933		2203	4300	6503	SO:0001627	intron_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52853933delC	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1912+22G>-	3.37:g.52853933delC						ITIH4_ENST00000406595.1_Intron|ITIH4_ENST00000266041.4_Intron|ITIH4_ENST00000346281.5_Intron|ITIH4_ENST00000485816.1_Intron	p.G557fs			Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	14	1819	-			0					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Frame_Shift_Del	DEL	ENST00000266041.4	37	c.1671delG	CCDS2865.1																																																																																				0.537	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		43	1026						43	1026	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		10	1188						10	1188	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		8	248						8	248	---	---	---	---
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	lincRNA	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333																																						ENST00000508616.1																			0																																																			0							g.chr3:98031434delA																													3.37:g.98031434delA						OR5H8P_ENST00000394191.2_RNA								0	149	+									RNA	DEL	ENST00000508616.1	37																																																																																						0.333	RP11-325B23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359282.1			8	142						8	142	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			11	1346						11	1346	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666228delA	ENST00000357559.4	+	5	748	c.364delA	c.(364-366)aaafs	p.K123fs	FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	123					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333																																						ENST00000357559.4																			1	Deletion - Frameshift(1)	p.N124fs*14(1)	large_intestine(1)	breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(364-366)aafs		fragile X mental retardation, autosomal homolog 1							55.0	58.0	57.0					3																	180666228		2202	4298	6500	SO:0001589	frameshift_variant	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180666228delA	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.364delA	3.37:g.180666228delA	ENSP00000350170:p.Lys123fs					FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs	p.K123fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		5	748	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		123					A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Del	DEL	ENST00000357559.4	37	c.364delA	CCDS3238.1																																																																																				0.333	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			68	273						68	273	---	---	---	---
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:661763_661765delAGG	ENST00000496514.1	+	21	2492_2494	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_ENST00000255622.6_In_Frame_Del_p.E828del|PDE6B_ENST00000429163.2_In_Frame_Del_p.E549del			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	828					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CTGGAGGAGAAGGAGGAGGAGGA	0.562																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2470-2475)aag>a		phosphodiesterase 6B, cGMP-specific, rod, beta																																				SO:0001651	inframe_deletion	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:661763_661765delAGG	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2471_2473delAGG	4.37:g.661772_661774delAGG	ENSP00000420295:p.Glu828del					PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del|PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del	p.KE824del	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			21	2514_2516	+			824					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	In_Frame_Del	DEL	ENST00000496514.1	37	c.2471_2473delAGG	CCDS33932.1																																																																																				0.562	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		12	824						12	824	---	---	---	---
FGFR3	2261	broad.mit.edu	37	4	1806180	1806181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1806180_1806181insC	ENST00000260795.2	+	8	1301_1302	c.1199_1200insC	c.(1198-1203)agccccfs	p.SP400fs	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Frame_Shift_Ins_p.SP402fs|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.SP400fs|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.SP400fs			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	400					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CGCCTGCGCAGCCCCCCCAAGA	0.629		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1204-1206)accfs		fibroblast growth factor receptor 3	Palifermin(DB00039)																																			SO:0001589	frameshift_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1806180_1806181insC	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1206dupC	4.37:g.1806187_1806187dupC	ENSP00000260795:p.Ser400fs					FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.T400fs|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Frame_Shift_Ins_p.T400fs|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.T400fs	p.T402fs	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		9	1461_1462	+		Breast(71;0.212)|all_epithelial(65;0.241)	400					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Frame_Shift_Ins	INS	ENST00000260795.2	37	c.1205_1206insC	CCDS3353.1																																																																																				0.629	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		91	2377						91	2377	---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-	rs372137428		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(70-72)del		HGF activator				1,155,2800		0,0,1,8,139,1330						2.2	1.0			15	2,247,5979		0,0,2,8,231,2873	no	codingComplex	HGFAC	NM_001528.2		0,0,3,16,370,4203	A1A1,A1A2,A1R,A2A2,A2R,RR		3.9981,5.2774,4.4098				3,402,8779				SO:0001651	inframe_deletion	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443798_3443800delCTG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.70_72delCTG	4.37:g.3443807_3443809delCTG	ENSP00000372224:p.Leu29del					HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	185_187	+			29					Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	ENST00000382774.3	37	c.70_72delCTG	CCDS3369.1																																																																																				0.714	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			13	243						13	243	---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|RPL9_ENST00000295955.9_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																						ENST00000261434.3																			1	Deletion - Frameshift(1)	p.K36fs*31(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(100-102)aafs		lipoic acid synthetase	Lipoic Acid(DB00166)						107.0	120.0	115.0					4																	39462464		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462464delA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered					LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	218	+			36						Frame_Shift_Del	DEL	ENST00000449470.2	37	c.100delA	CCDS3452.1																																																																																				0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			11	833						11	833	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57179389	57179389	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179389delA	ENST00000504228.1	+	5	486	c.381delA	c.(379-381)ccafs	p.P127fs	KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P127fs|KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P120fs			Q6ZU35	K1211_HUMAN	KIAA1211	127										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGTCTCGGCCAAAAAGGCACT	0.537																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(379-381)ccfs		KIAA1211							182.0	187.0	186.0					4																	57179389		1995	4157	6152	SO:0001589	frameshift_variant	57482							g.chr4:57179389delA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.381delA	4.37:g.57179389delA	ENSP00000423366:p.Pro127fs					KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P120fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P127fs	p.P127fs			Q6ZU35	K1211_HUMAN			5	486	+	Glioma(25;0.08)|all_neural(26;0.101)		127					Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	ENST00000504228.1	37	c.381delA	CCDS43230.1																																																																																				0.537	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	1253						7	1253	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(226-228)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554620_71554622delGAG	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del						p.E81del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	425_427	+			81			Glu-rich.		Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.226_228delGAG	CCDS3546.1																																																																																				0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		11	247						11	247	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77305357	77305357	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305357delT	ENST00000388914.3	-	5	762	c.610delA	c.(610-612)atafs	p.I204fs	CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	204										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTCACATATTTTTTTGCCT	0.393																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(610-612)tafs		coiled-coil domain containing 158							106.0	97.0	100.0					4																	77305357		1872	4116	5988	SO:0001589	frameshift_variant	339965							g.chr4:77305357delT	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.610delA	4.37:g.77305357delT	ENSP00000373566:p.Ile204fs					CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			5	762	-			204					Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	c.610delA	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		8	522						8	522	---	---	---	---
BMP2K	55589	broad.mit.edu	37	4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-	rs202184856|rs200441916|rs2114202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)cagcaccacdel	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1456-1464)del		BMP2 inducible kinase																																				SO:0001651	inframe_deletion	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792161_79792169delCAGCACCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1456_1464delCAGCACCAC	4.37:g.79792161_79792169delCAGCACCAC	ENSP00000334836:p.Gln486_His488del					BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1622_1630	+			486	Missing (in Ref. 2; CAB70863).	Q -> H (in dbSNP:rs2114202).	Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	In_Frame_Del	DEL	ENST00000335016.5	37	c.1456_1464delCAGCACCAC	CCDS47083.1																																																																																				0.488	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		9	327						9	327	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83785565delT	ENST00000395310.2	-	11	1566	c.1384delA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	2	Deletion - Frameshift(2)	p.I462fs*16(2)	lung(2)	breast(1)	1						c.(1384-1386)ttfs		SEC31 homolog A (S. cerevisiae)							89.0	91.0	91.0					4																	83785565		2203	4300	6503	SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785565delT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1384delA	4.37:g.83785565delT	ENSP00000378721:p.Ile462fs					SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs	p.I462fs			O94979	SC31A_HUMAN			11	1547	-		Hepatocellular(203;0.114)	462			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	c.1384delA	CCDS3596.1																																																																																				0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	320						7	320	---	---	---	---
SPARCL1	8404	broad.mit.edu	37	4	88415552	88415553	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415552_88415553insT	ENST00000282470.6	-	4	869_870	c.399_400insA	c.(397-402)aaactcfs	p.L134fs	SPARCL1_ENST00000503414.1_Frame_Shift_Ins_p.L9fs|SPARCL1_ENST00000418378.1_Frame_Shift_Ins_p.L134fs	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	134					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCTCTGAGAGTTTTTTCTCCT	0.401																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(397-402)aatctcfs		SPARC-like 1 (hevin)																																				SO:0001589	frameshift_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415552_88415553insT	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.400dupA	4.37:g.88415558_88415558dupT	ENSP00000282470:p.Leu134fs					SPARCL1_ENST00000282470.6_Frame_Shift_Ins_p.NL133fs|SPARCL1_ENST00000503414.1_Frame_Shift_Ins_p.NL8fs	p.NL133fs	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	970_971	-			133					B4E2Z0|E7ESU2|Q14800	Frame_Shift_Ins	INS	ENST00000282470.6	37	c.399_400insA	CCDS3622.1																																																																																				0.401	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			39	157						39	157	---	---	---	---
LEF1	51176	broad.mit.edu	37	4	109088884	109088884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109088884delC	ENST00000265165.1	-	1	694	c.40delG	c.(40-42)gacfs	p.D14fs	LEF1_ENST00000438313.2_Frame_Shift_Del_p.D14fs|LEF1_ENST00000512172.1_5'Flank|LEF1_ENST00000510624.1_5'Flank|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000379951.2_Frame_Shift_Del_p.D14fs	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	14	Asp/Glu-rich (acidic).|CTNNB1-binding. {ECO:0000250}.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGTTCCGGGTCCCCCCCGCCG	0.637																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(40-42)acfs		lymphoid enhancer-binding factor 1							58.0	67.0	64.0					4																	109088884		2203	4300	6503	SO:0001589	frameshift_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109088884delC		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.40delG	4.37:g.109088884delC	ENSP00000265165:p.Asp14fs					LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000265165.1_Frame_Shift_Del_p.D14fs|LEF1_ENST00000438313.2_Frame_Shift_Del_p.D14fs	p.D14fs	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	1	1228	-			14			Asp/Glu-rich (acidic).|CTNNB1-binding (By similarity).		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Frame_Shift_Del	DEL	ENST00000265165.1	37	c.40delG	CCDS3679.1																																																																																				0.637	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			7	964						7	964	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	318						12	318	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000398940.1_Splice_Site_p.A37del|MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			36	479						36	479	---	---	---	---
C4orf51	646603	broad.mit.edu	37	4	146601514	146601515	+	Frame_Shift_Ins	INS	-	-	A	rs527501209	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601514_146601515insA	ENST00000438731.1	+	1	159_160	c.159_160insA	c.(160-162)aaafs	p.K54fs		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	54										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GCAGTTACCGGAAAAAACAACT	0.446													AAAAAA|AAAAAA|AAAAAAA|insertion	11	0.00219649	0.0076	0.0014	5008	,	,		22027	0.0		0.0	False		,,,				2504	0.0					ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(157-162)cgaaaafs		chromosome 4 open reading frame 51				26,3704		3,20,1842						4.3	0.6			108	6,7944		0,6,3969	no	frameshift	C4orf51	NM_001080531.1		3,26,5811	A1A1,A1R,RR		0.0755,0.6971,0.274				32,11648				SO:0001589	frameshift_variant	646603							g.chr4:146601514_146601515insA		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.165dupA	4.37:g.146601520_146601520dupA	ENSP00000391404:p.Lys54fs						p.RK53fs	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			1	159_160	+			53						Frame_Shift_Ins	INS	ENST00000438731.1	37	c.159_160insA	CCDS47140.1																																																																																				0.446	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		7	368						7	368	---	---	---	---
PPID	5481	broad.mit.edu	37	4	159636465	159636466	+	Frame_Shift_Ins	INS	-	-	T	rs573058760	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159636465_159636466insT	ENST00000307720.3	-	6	842_843	c.735_736insA	c.(733-738)aaatatfs	p.Y246fs		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	246	Interaction with HSP90AB1. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		ACTTCTGCATATTTTTTAATAG	0.203																																						ENST00000307720.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(733-738)aaatgcfs		peptidylprolyl isomerase D																																				SO:0001589	frameshift_variant	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159636465_159636466insT		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.736dupA	4.37:g.159636471_159636471dupT	ENSP00000303754:p.Tyr246fs						p.C246fs	NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	6	842_843	-	all_hematologic(180;0.24)		246					B2R9V2	Frame_Shift_Ins	INS	ENST00000307720.3	37	c.735_736insA	CCDS3801.1																																																																																				0.203	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		11	45						11	45	---	---	---	---
AGA	175	broad.mit.edu	37	4	178352895	178352896	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178352895_178352896insT	ENST00000264595.2	-	9	1134_1135	c.1007_1008insA	c.(1006-1008)aatfs	p.N336fs	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGGA	0.371																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(1006-1008)acafs		aspartylglucosaminidase																																				SO:0001589	frameshift_variant	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178352895_178352896insT	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.1008dupA	4.37:g.178352902_178352902dupT	ENSP00000264595:p.Asn336fs						p.T336fs	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	9	1134_1135	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	336					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Frame_Shift_Ins	INS	ENST00000264595.2	37	c.1007_1008insA	CCDS3829.1																																																																																				0.371	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		37	195						37	195	---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186380209	186380210	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186380209_186380210insT	ENST00000307588.3	-	6	1606_1607	c.1531_1532insA	c.(1531-1533)atafs	p.I511fs	CCDC110_ENST00000510617.1_Frame_Shift_Ins_p.I511fs|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.I474fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	511						nucleus (GO:0005634)		p.I511fs*3(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		tttactaattatttttttaaat	0.277																																						ENST00000307588.3																			1	Insertion - Frameshift(1)	p.I511fs*3(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1531-1533)aatfs		coiled-coil domain containing 110			,	5,4089		0,5,2042					,	5.8	0.0			23	2,8102		0,2,4050	no	frameshift,frameshift	CCDC110	NM_152775.3,NM_001145411.1	,	0,7,6092	A1A1,A1R,RR		0.0247,0.1221,0.0574	,	,		7,12191				SO:0001589	frameshift_variant	256309					nucleus		g.chr4:186380209_186380210insT	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1532dupA	4.37:g.186380216_186380216dupT	ENSP00000306776:p.Ile511fs					CCDC110_ENST00000510617.1_Frame_Shift_Ins_p.N511fs|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.N474fs	p.N511fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1606_1607	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	511					Q86YI9|Q8N7W0	Frame_Shift_Ins	INS	ENST00000307588.3	37	c.1531_1532insA	CCDS3843.1																																																																																				0.277	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		12	104						12	104	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14477004	14477004	+	Splice_Site	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14477004delT	ENST00000344204.4	+	41	6109	c.6085delT	c.(6085-6087)ttt>tt	p.F2030fs	TRIO_ENST00000537187.1_Splice_Site_p.F2030fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2030	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTTTCCAGCTTTTTTTTAGG	0.308																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.e41-1		trio Rho guanine nucleotide exchange factor							78.0	74.0	75.0					5																	14477004		2203	4300	6503	SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14477004delT	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6084-1T>-	5.37:g.14477004delT						TRIO_ENST00000537187.1_Splice_Site_p.F2030_splice	p.F2030_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			41	6109	+	Lung NSC(4;0.000742)		2030			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	DEL	ENST00000344204.4	37	c.6083_splice	CCDS3883.1																																																																																				0.308	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Frame_Shift_Del	33	118						33	118	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32404161	32404161	+	Frame_Shift_Del	DEL	T	T	-	rs527380225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32404161delT	ENST00000265069.8	-	7	1176	c.1074delA	c.(1072-1074)aaafs	p.K358fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	358					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATGCAGCTTCTTTTTTTTTAT	0.348																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1072-1074)aafs		zinc finger RNA binding protein							144.0	142.0	143.0					5																	32404161		2203	4300	6503	SO:0001589	frameshift_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32404161delT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1074delA	5.37:g.32404161delT	ENSP00000265069:p.Lys358fs						p.K358fs	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	7	1176	-			358					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	c.1074delA	CCDS34139.1																																																																																				0.348	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			15	642						15	642	---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52221300	52221301	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52221300_52221301insT	ENST00000282588.6	+	19	3054_3055	c.2596_2597insT	c.(2596-2598)gttfs	p.V866fs		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	866					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCCAAATCTAGTTTTTTCAGGA	0.356																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2596-2598)tttfs		integrin, alpha 1																																				SO:0001589	frameshift_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52221300_52221301insT	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2602dupT	5.37:g.52221306_52221306dupT	ENSP00000282588:p.Val866fs						p.F866fs	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			19	3054_3055	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	866					B2RNU0	Frame_Shift_Ins	INS	ENST00000282588.6	37	c.2596_2597insT	CCDS3955.1																																																																																				0.356	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		59	308						59	308	---	---	---	---
PDE4D	5144	broad.mit.edu	37	5	58270553	58270554	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58270553_58270554insA	ENST00000340635.6	-	15	2542_2543	c.2367_2368insT	c.(2365-2370)gtagggfs	p.G790fs	PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.G488fs|PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.G668fs|PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.G654fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.G660fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.G726fs|PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.G499fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	790					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCTTCTTCCCCTACTGCCTCCT	0.436																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(2365-2370)gtgggafs		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)																																			SO:0001589	frameshift_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270553_58270554insA		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2367_2368insT	5.37:g.58270553_58270554insA	ENSP00000345502:p.Gly790fs					PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.VG653fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.VG659fs|PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.VG487fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.VG728fs|PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.VG498fs|PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.VG728fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.VG725fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.VG667fs	p.VG789fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2542_2543	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	789					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Frame_Shift_Ins	INS	ENST00000340635.6	37	c.2367_2368insT	CCDS47213.1																																																																																				0.436	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			243	1086						243	1086	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(697-702)acaaaafs		serum response factor binding protein 1																																				SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356129_121356130insA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.707dupA	5.37:g.121356137_121356137dupA	ENSP00000341324:p.Lys234fs						p.TK233fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	771_772	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	233						Frame_Shift_Ins	INS	ENST00000339397.4	37	c.699_700insA	CCDS43354.1																																																																																				0.401	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		9	643						9	643	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	ANKHD1_ENST00000544120.1_5'Flank|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|SNORD45_ENST00000363181.1_RNA	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	781						7	781	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481073	140481074	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140481073_140481074insT	ENST00000231130.2	+	1	840_841	c.840_841insT	c.(841-843)tttfs	p.F281fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCATATGCATTTTTTCATGC	0.366																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(838-843)gcttttfs																																						SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481073_140481074insT	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.846dupT	5.37:g.140481079_140481079dupT	ENSP00000231130:p.Phe281fs					AC005754.7_ENST00000607216.1_RNA	p.AF280fs	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	840_841	+			280			Cadherin 3.		B2R8P2	Frame_Shift_Ins	INS	ENST00000231130.2	37	c.840_841insT	CCDS4245.1																																																																																				0.366	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		70	348						70	348	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140593739	140593739	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140593739delT	ENST00000341948.4	+	1	231	c.44delT	c.(43-45)cttfs	p.L15fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	15					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAAGTCCTTTTTTCCTTT	0.532																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(43-45)ctfs									42.0	42.0	42.0					5																	140593739		2203	4297	6500	SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140593739delT	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.44delT	5.37:g.140593739delT	ENSP00000345491:p.Leu15fs						p.L15fs	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	231	+			15					A8K9V6	Frame_Shift_Del	DEL	ENST00000341948.4	37	c.44delT	CCDS4255.1																																																																																				0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		30	148						30	148	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		9	538						9	538	---	---	---	---
DCTN4	51164	broad.mit.edu	37	5	150136014	150136015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150136014_150136015insT	ENST00000447998.2	-	2	285_286	c.170_171insA	c.(169-171)aatfs	p.N57fs	DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.N57fs|DCTN4_ENST00000424236.1_5'UTR|DCTN4_ENST00000521093.1_5'UTR	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	57					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGATGGCATATTTTCTAAACA	0.351																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(169-171)aatfs		dynactin 4 (p62)																																				SO:0001589	frameshift_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150136014_150136015insT	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.171dupA	5.37:g.150136018_150136018dupT	ENSP00000416968:p.Asn57fs					DCTN4_ENST00000521093.1_5'UTR|DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.N57fs|DCTN4_ENST00000424236.1_5'UTR	p.N57fs	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	285_286	-		Medulloblastoma(196;0.167)	57					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Frame_Shift_Ins	INS	ENST00000447998.2	37	c.170_171insA	CCDS4310.1																																																																																				0.351	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			24	290						24	290	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		14	1558						14	1558	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156535948_156535950delAGC	ENST00000307851.4	-	1	775_777	c.45_47delGCT	c.(43-48)ctgcta>cta	p.15_16LL>L	HAVCR2_ENST00000517358.1_5'Flank|HAVCR2_ENST00000522593.1_In_Frame_Del_p.15_16LL>L|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438																																						ENST00000307851.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.L18delL(1)|p.L15L(1)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-48)cta>ct		hepatitis A virus cellular receptor 2																																				SO:0001651	inframe_deletion	84868					integral to membrane		g.chr5:156535948_156535950delAGC	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45_47delGCT	5.37:g.156535957_156535959delAGC	ENSP00000312002:p.Leu18del					HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA	p.LL17del	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	775_777	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	17					B2RAY2|Q8WW60|Q96K94	In_Frame_Del	DEL	ENST00000307851.4	37	c.45_47delGCT	CCDS4333.1																																																																																				0.438	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			7	283						7	283	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Intron	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:172578611delT	ENST00000351486.5	+	3	208				BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000231668.9_Frame_Shift_Del_p.F76fs	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(220-222)ttfs		BCL2/adenovirus E1B 19kDa interacting protein 1			,,,	16,4248		4,8,2120	126.0	120.0	122.0		,,,	-3.2	0.0	5		123	29,8225		6,17,4104	no	frameshift,frameshift,intron,intron	BNIP1	NM_013980.2,NM_013979.2,NM_013978.2,NM_001205.2	,,,	10,25,6224	A1A1,A1R,RR		0.3513,0.3752,0.3595	,,,	,,,	172578611	45,12473	2203	4300	6503	SO:0001627	intron_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172578611delT	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2714T>-	5.37:g.172578611delT						BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron	p.F76fs	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	324	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	59					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Frame_Shift_Del	DEL	ENST00000351486.5	37	c.220delT	CCDS4384.1																																																																																				0.348	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		16	457						16	457	---	---	---	---
CPLX2	10814	broad.mit.edu	37	5	175306965	175306967	+	In_Frame_Del	DEL	GAG	GAG	-	rs183694640	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175306965_175306967delGAG	ENST00000359546.4	+	5	965_967	c.322_324delGAG	c.(322-324)gagdel	p.E114del	CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del|CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	114					cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCGGGGACGAGGAGGAGGAGG	0.645																																						ENST00000359546.4																			0				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10						c.(322-324)del		complexin 2																																				SO:0001651	inframe_deletion	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306965_175306967delGAG	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.322_324delGAG	5.37:g.175306974_175306976delGAG	ENSP00000352544:p.Glu114del					CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del|CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del	p.E114del	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	965_967	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	114					B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	In_Frame_Del	DEL	ENST00000359546.4	37	c.322_324delGAG	CCDS4396.1																																																																																				0.645	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			8	191						8	191	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31601175	31601175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31601175delC	ENST00000376033.2	+	17	4573	c.4339delC	c.(4339-4341)cccfs	p.P1448fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1448fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1448	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAGGAGCGTCCCCCGGGGCT	0.542																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4339-4341)ccfs		proline-rich coiled-coil 2A							56.0	64.0	61.0					6																	31601175		1509	2708	4217	SO:0001589	frameshift_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31601175delC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4339delC	6.37:g.31601175delC	ENSP00000365201:p.Pro1448fs					PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1448fs	p.P1448fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			17	4573	+			1448			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Del	DEL	ENST00000376033.2	37	c.4339delC	CCDS4708.1																																																																																				0.542	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		47	450						47	450	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGAAAATAGGATTGGGAGAGTA	0.475																																						ENST00000411500.1																			0																																																			0							g.chr6:32522379_32522380insC	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522379_32522380insC								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.475	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		14	279						14	279	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35912064	35912065	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35912064_35912065insT	ENST00000490799.1	-	20	2878_2879	c.2525_2526insA	c.(2524-2526)aatfs	p.N842fs	SLC26A8_ENST00000394602.2_Frame_Shift_Ins_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Ins_p.N842fs	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGACTTACATTTTTTTGGCT	0.401																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2524-2526)agtfs		solute carrier family 26 (anion exchanger), member 8																																				SO:0001589	frameshift_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35912064_35912065insT	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2526dupA	6.37:g.35912071_35912071dupT	ENSP00000417638:p.Asn842fs					SLC26A8_ENST00000355574.2_Frame_Shift_Ins_p.S842fs|SLC26A8_ENST00000394602.2_Frame_Shift_Ins_p.S737fs	p.S842fs	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			20	2878_2879	-			842			Interaction with RACGAP1.			Frame_Shift_Ins	INS	ENST00000490799.1	37	c.2525_2526insA	CCDS4813.1																																																																																				0.401	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			87	449						87	449	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		7	206						7	206	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		9	1907						9	1907	---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	57012217	57012218	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012217_57012218insA	ENST00000370706.4	+	10	1578_1579	c.1334_1335insA	c.(1333-1338)ccaaaafs	p.PK445fs	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Frame_Shift_Ins_p.PK445fs|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Frame_Shift_Ins_p.PK445fs|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTGCCATTCCAAAAAAGAAGA	0.342																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1333-1335)caafs		zinc finger protein 451																																				SO:0001589	frameshift_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012217_57012218insA	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1340dupA	6.37:g.57012223_57012223dupA	ENSP00000359740:p.Pro445fs					RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Frame_Shift_Ins_p.Q445fs|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Frame_Shift_Ins_p.Q445fs	p.Q445fs	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1578_1579	+	Lung NSC(77;0.145)		445					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Frame_Shift_Ins	INS	ENST00000370706.4	37	c.1334_1335insA	CCDS43477.1																																																																																				0.342	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		65	334						65	334	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79657339	79657339	+	Splice_Site	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79657339delC	ENST00000275034.4	-	36	4374		c.e36+1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein						cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAATTATATACCCTTGATCTT	0.299																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.e36+1		pleckstrin homology domain interacting protein							93.0	92.0	92.0					6																	79657339		2203	4300	6503	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79657339delC	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4206+1G>-	6.37:g.79657339delC						PHIP_ENST00000479165.1_Splice_Site		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	36	4374	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)						A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	DEL	ENST00000275034.4	37		CCDS4987.1																																																																																				0.299	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		Intron	9	210						9	210	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142691376	142691377	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142691376_142691377insA	ENST00000230173.6	+	4	991_992	c.515_516insA	c.(514-519)gcaaaafs	p.AK172fs	GPR126_ENST00000296932.8_Frame_Shift_Ins_p.AK172fs|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Frame_Shift_Ins_p.AK172fs|GPR126_ENST00000367608.2_Frame_Shift_Ins_p.AK172fs	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	172	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GTATCTGTTGCAAAAAGCATCT	0.421																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(514-516)gaafs		G protein-coupled receptor 126																																				SO:0001589	frameshift_variant	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691376_142691377insA	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.520dupA	6.37:g.142691381_142691381dupA	ENSP00000230173:p.Ala172fs					GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Frame_Shift_Ins_p.E172fs|GPR126_ENST00000367608.2_Frame_Shift_Ins_p.E172fs|GPR126_ENST00000296932.8_Frame_Shift_Ins_p.E172fs	p.E172fs	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	991_992	+	Breast(32;0.176)		172			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Frame_Shift_Ins	INS	ENST00000230173.6	37	c.515_516insA	CCDS47490.1																																																																																				0.421	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			14	176						14	176	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.48																																						ENST00000367321.3																			1	Deletion - Frameshift(1)	p.L914fs*14(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2755-2760)gaaaaafs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151358163_151358164insA	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2763dupA	6.37:g.151358169_151358169dupA	ENSP00000356290:p.Lys920fs						p.EK919fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	26	3031_3032	+		Ovarian(120;0.128)	919			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Ins	INS	ENST00000367321.3	37	c.2757_2758insA	CCDS5228.1																																																																																				0.480	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		7	592						7	592	---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagagfs	p.E524fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.E239fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	524					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1567-1572)caagfs		PHD finger protein 14																																				SO:0001589	frameshift_variant	9678						zinc ion binding	g.chr7:11075380_11075381delAG	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1569_1570delAG	7.37:g.11075388_11075389delAG	ENSP00000385795:p.Glu524fs					PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	p.QE523fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	2021_2022	+			523					A7MCZ3|B4DI82	Frame_Shift_Del	DEL	ENST00000403050.3	37	c.1569_1570delAG	CCDS47542.1																																																																																				0.376	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		8	975						8	975	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20706381	20706382	+	Intron	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20706381_20706382insA	ENST00000404938.2	+	14	2359				ABCB5_ENST00000258738.6_Intron|ABCB5_ENST00000406935.1_Splice_Site	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTATTTTCTAGAAAAAATAATA	0.327																																						ENST00000406935.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.e6-1		ATP-binding cassette, sub-family B (MDR/TAP), member 5																																				SO:0001627	intron_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20706381_20706382insA	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1707+8082->A	7.37:g.20706387_20706387dupA						ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000258738.6_Intron		NM_001163993.1	NP_001157465.1	Q2M3G0	ABCB5_HUMAN			6	918_919	+								A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Splice_Site	INS	ENST00000404938.2	37		CCDS55090.1																																																																																				0.327	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		12	92						12	92	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20793076	20793076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20793076delA	ENST00000404938.2	+	27	4175	c.3523delA	c.(3523-3525)aaafs	p.K1175fs	ABCB5_ENST00000258738.6_Frame_Shift_Del_p.K730fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1175	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CCAAAAACCCAAAATTTTATT	0.393																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3523-3525)aafs		ATP-binding cassette, sub-family B (MDR/TAP), member 5							102.0	104.0	103.0					7																	20793076		2203	4300	6503	SO:0001589	frameshift_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20793076delA	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3523delA	7.37:g.20793076delA	ENSP00000384881:p.Lys1175fs					ABCB5_ENST00000258738.6_Frame_Shift_Del_p.K730fs	p.K1175fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			27	4175	+			730					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Frame_Shift_Del	DEL	ENST00000404938.2	37	c.3523delA	CCDS55090.1																																																																																				0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		8	400						8	400	---	---	---	---
RAPGEF5	9771	broad.mit.edu	37	7	22330862	22330863	+	Splice_Site	INS	-	-	A	rs367948789		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22330862_22330863insA	ENST00000405243.1	-	6	764		c.e6-2		RAPGEF5_ENST00000344041.6_Splice_Site|RAPGEF5_ENST00000475788.1_5'Flank			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5						nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGATGAGACCTAAAAAAAAAAA	0.337																																						ENST00000344041.6																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.e6-2		Rap guanine nucleotide exchange factor (GEF) 5																																				SO:0001630	splice_region_variant	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22330862_22330863insA	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.681-2->T	7.37:g.22330873_22330873dupA						RAPGEF5_ENST00000405243.1_Splice_Site		NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN			6	534	-								A4D140|Q8IXU5	Splice_Site	INS	ENST00000405243.1	37																																																																																						0.337	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294	Intron	7	20						7	20	---	---	---	---
FAM126A	84668	broad.mit.edu	37	7	22985591	22985592	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22985591_22985592insT	ENST00000432176.2	-	11	1414_1415	c.1182_1183insA	c.(1180-1185)aaagaafs	p.E395fs	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'Flank	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	395					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTGTAGTTTCTTTTTCTTTTC	0.406																																						ENST00000432176.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1180-1185)aaaaacfs		family with sequence similarity 126, member A																																				SO:0001589	frameshift_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985591_22985592insT	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1183dupA	7.37:g.22985596_22985596dupT	ENSP00000403396:p.Glu395fs					FAM126A_ENST00000409923.1_3'UTR	p.N395fs	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN			11	1414_1415	-			395					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Frame_Shift_Ins	INS	ENST00000432176.2	37	c.1182_1183insA	CCDS5377.1																																																																																				0.406	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		173	822						173	822	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			13	392						13	392	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27222461	27222462	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27222461_27222462insT	ENST00000006015.3	-	2	966_967	c.895_896insA	c.(895-897)attfs	p.I299fs	RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCTGTTAATTTTTTTTTCC	0.446			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(895-897)taafs		homeobox A11																																				SO:0001589	frameshift_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222461_27222462insT		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.896dupA	7.37:g.27222470_27222470dupT	ENSP00000006015:p.Ile299fs						p.*299fs	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	966_967	-			299					A4D190	Frame_Shift_Ins	INS	ENST00000006015.3	37	c.895_896insA	CCDS5411.1																																																																																				0.446	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			10	659						10	659	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:41729741_41729743delTTC	ENST00000242208.4	-	3	1032_1034	c.786_788delGAA	c.(784-789)aagaaa>aaa	p.262_263KK>K	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.262_263KK>K|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	262					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(784-789)aaa>aa		inhibin, beta A																																				SO:0001651	inframe_deletion	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729741_41729743delTTC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.786_788delGAA	7.37:g.41729750_41729752delTTC	ENSP00000242208:p.Lys263del	TSP Lung(11;0.080)				INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	p.KK262del	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	1032_1034	-			262					Q14599	In_Frame_Del	DEL	ENST00000242208.4	37	c.786_788delGAA	CCDS5464.1																																																																																				0.581	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			9	316						9	316	---	---	---	---
AEBP1	165	broad.mit.edu	37	7	44148713	44148714	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148713_44148714insA	ENST00000223357.3	+	8	1331_1332	c.1026_1027insA	c.(1027-1029)aaafs	p.K343fs	AEBP1_ENST00000454218.1_3'UTR|MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	343					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGAGAAACCCAAAAAGGAGGA	0.629																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(1024-1029)ccaaaafs		AE binding protein 1																																				SO:0001589	frameshift_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44148713_44148714insA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1031dupA	7.37:g.44148718_44148718dupA	ENSP00000223357:p.Lys343fs					AEBP1_ENST00000454218.1_3'UTR	p.PK342fs	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			8	1331_1332	+			342					Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Frame_Shift_Ins	INS	ENST00000223357.3	37	c.1026_1027insA	CCDS5476.1																																																																																				0.629	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		37	198						37	198	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		11	77						11	77	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72236590	72236591	+	RNA	INS	-	-	A	rs572448846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72236590_72236591insA	ENST00000435769.2	-	0	1087				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TAAAAACAAACAAAAAAAACCT	0.332																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72236590_72236591insA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72236598_72236598dupA										Q6NUM6	TYW1B_HUMAN			0	577	-								A6NG09|B4DFY2|Q3KQX2	RNA	INS	ENST00000435769.2	37																																																																																						0.332	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		34	100						34	100	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72907202	72907202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72907202delT	ENST00000339594.4	-	5	959	c.621delA	c.(619-621)aaafs	p.K207fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.K207fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	207	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTTTCTCCTTTTTTTAATG	0.323																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(619-621)aafs		bromodomain adjacent to zinc finger domain, 1B							129.0	125.0	126.0					7																	72907202		2203	4299	6502	SO:0001589	frameshift_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72907202delT	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.621delA	7.37:g.72907202delT	ENSP00000342434:p.Lys207fs					BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.K207fs	p.K207fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			5	959	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	207			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Frame_Shift_Del	DEL	ENST00000339594.4	37	c.621delA	CCDS5549.1																																																																																				0.323	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		9	213						9	213	---	---	---	---
MDH2	4191	broad.mit.edu	37	7	75684225	75684226	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75684225_75684226insA	ENST00000315758.5	+	2	238_239	c.144_145insA	c.(145-147)ttgfs	p.L49fs	MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000432020.2_Frame_Shift_Ins_p.L49fs|MDH2_ENST00000443006.1_Intron	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	49					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						AGAACAGCCCCTTGGTGAGCCG	0.564																																						ENST00000315758.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						c.(142-147)cctggtfs		malate dehydrogenase 2, NAD (mitochondrial)	NADH(DB00157)																																			SO:0001589	frameshift_variant	4191				gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	g.chr7:75684225_75684226insA		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	Exception_encountered	7.37:g.75684225_75684226insA	ENSP00000327070:p.Leu49fs					MDH2_ENST00000432020.2_Frame_Shift_Ins_p.G49fs|MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000443006.1_Intron	p.G49fs	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN			2	238_239	+			49					A8K414|B2RE78|B4DE44|E9PDB2|O43682	Frame_Shift_Ins	INS	ENST00000315758.5	37	c.144_145insA	CCDS5581.1																																																																																				0.564	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			20	820						20	820	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			13	17						13	17	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-633)ggc>g		GRB10 interacting GYF protein 1				14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				SO:0001651	inframe_deletion	64599							g.chr7:100284335_100284337delCCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del					GIGYF1_ENST00000471340.2_Intron	p.EG210del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838_1840	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.629_631delAGG	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		12	397						12	397	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100285169	100285170	+	Frame_Shift_Ins	INS	-	-	G	rs553150910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100285169_100285170insG	ENST00000275732.5	-	4	1540_1541	c.331_332insC	c.(331-333)ctgfs	p.L111fs	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	111					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.L111fs*234(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTGCCAGCCAGGGGGGGGCCA	0.673																																						ENST00000275732.5																			1	Deletion - Frameshift(1)	p.L111fs*234(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(331-333)ggcfs		GRB10 interacting GYF protein 1																																				SO:0001589	frameshift_variant	64599							g.chr7:100285169_100285170insG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.332dupC	7.37:g.100285177_100285177dupG	ENSP00000275732:p.Leu111fs					GIGYF1_ENST00000471340.2_5'UTR	p.G111fs	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			4	1540_1541	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		111					Q6Y7W7|Q8WZ38	Frame_Shift_Ins	INS	ENST00000275732.5	37	c.331_332insC	CCDS34708.1																																																																																				0.673	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	288						7	288	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100479332delG	ENST00000347433.4	+	4	462	c.304delG	c.(304-306)gggfs	p.G106fs	SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000388793.4_Frame_Shift_Del_p.G106fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	106				G -> GG (in Ref. 3; CAB46374). {ECO:0000305}.	cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCCTATGCTGGGGGGGGTGG	0.607																																						ENST00000388793.4																			1	Deletion - Frameshift(1)	p.G104fs*45(1)	ovary(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(304-306)ggfs		serrate RNA effector molecule homolog (Arabidopsis)			,,,	57,63,4112		1,0,55,5,53,2002	29.0	30.0	30.0		,,,	4.3	1.0	7		30	49,115,8030		0,0,49,12,91,3945	no	codingComplex,codingComplex,codingComplex,codingComplex	SRRT	NM_015908.5,NM_001128854.1,NM_001128853.1,NM_001128852.1	,,,	1,0,104,17,144,5947	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0015,2.8355,2.2855	,,,	,,,	100479332	106,178,12142	2197	4287	6484	SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479332delG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.304delG	7.37:g.100479332delG	ENSP00000314491:p.Gly106fs					SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs	p.G106fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			4	524	+			106	G -> GG (in Ref. 3; CAB46374).				A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Del	DEL	ENST00000347433.4	37	c.304delG	CCDS34709.1																																																																																				0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		9	315						9	315	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	332						7	332	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150698397	150698398	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698397_150698398insG	ENST00000484524.1	+	10	1312_1313	c.1312_1313insG	c.(1312-1314)aggfs	p.R438fs	NOS3_ENST00000461406.1_Frame_Shift_Ins_p.R232fs|NOS3_ENST00000467517.1_Frame_Shift_Ins_p.R438fs|NOS3_ENST00000297494.3_Frame_Shift_Ins_p.R438fs	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGAAGGCCAGGGGGGGCTGC	0.614																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1312-1314)gggfs		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)																																			SO:0001589	frameshift_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698397_150698398insG		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1319dupG	7.37:g.150698404_150698404dupG	ENSP00000420215:p.Arg438fs					NOS3_ENST00000467517.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000484524.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000461406.1_Frame_Shift_Ins_p.G232fs	p.G438fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1669_1670	+	all_neural(206;0.219)		438			Interaction with NOSIP.		Q495E5	Frame_Shift_Ins	INS	ENST00000484524.1	37	c.1312_1313insG	CCDS55182.1																																																																																				0.614	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		85	464						85	464	---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156745239	156745240	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156745239_156745240insA	ENST00000275820.3	+	2	1074_1075	c.1059_1060insA	c.(1060-1062)aaafs	p.K354fs		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	354						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGGACTTCAAGAAAAAGGAAGA	0.401																																						ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(1057-1062)aaaaaafs		nucleolar protein with MIF4G domain 1																																				SO:0001589	frameshift_variant	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156745239_156745240insA	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1064dupA	7.37:g.156745244_156745244dupA	ENSP00000275820:p.Lys354fs						p.KK353fs	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	1074_1075	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	353					Q96I08	Frame_Shift_Ins	INS	ENST00000275820.3	37	c.1059_1060insA	CCDS34787.1																																																																																				0.401	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		53	293						53	293	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	379						8	379	---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24167472	24167473	+	Frame_Shift_Ins	INS	-	-	A	rs570442888	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24167472_24167473insA	ENST00000265769.4	+	3	326_327	c.216_217insA	c.(217-219)aaafs	p.K73fs	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.K73fs|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	73					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	2	0.000399361	0.0	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.002				NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Insertion - Frameshift(1)	p.N75fs*15(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(214-219)ttaaaafs		ADAM metallopeptidase domain 28																																				SO:0001589	frameshift_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24167472_24167473insA	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.224dupA	8.37:g.24167480_24167480dupA	ENSP00000265769:p.Lys73fs					ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.LK72fs|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA	p.LK72fs	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	3	326_327	+		Prostate(55;0.0959)	72					B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Ins	INS	ENST00000265769.4	37	c.216_217insA	CCDS34865.1																																																																																				0.332	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		52	316						52	316	---	---	---	---
PNOC	5368	broad.mit.edu	37	8	28196589	28196589	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28196589delC	ENST00000301908.3	+	3	367	c.159delC	c.(157-159)ttcfs	p.F53fs	PNOC_ENST00000522209.1_5'UTR|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	53					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		AGAAGGTCTTCCCCAGCCCCC	0.607																																						ENST00000301908.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(157-159)ttfs		prepronociceptin							75.0	76.0	76.0					8																	28196589		2203	4300	6503	SO:0001589	frameshift_variant	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196589delC		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.159delC	8.37:g.28196589delC	ENSP00000301908:p.Phe53fs					PNOC_ENST00000522209.1_5'UTR|RP11-380I10.4_ENST00000521731.1_RNA	p.F53fs	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	367	+		Ovarian(32;0.000953)	53					B7Z749|Q6FH16	Frame_Shift_Del	DEL	ENST00000301908.3	37	c.159delC	CCDS6066.1																																																																																				0.607	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		46	491						46	491	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35608248delT	ENST00000404895.2	+	13	2412	c.2084delT	c.(2083-2085)gttfs	p.V695fs	UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.V626fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGTGGCGGTTTTTGGCTGC	0.488																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1876-1878)gtfs		unc-5 homolog D (C. elegans)							237.0	200.0	213.0					8																	35608248		2203	4300	6503	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608248delT	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2084delT	8.37:g.35608248delT	ENSP00000385143:p.Val695fs					UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs	p.V626fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1897	+			695			ZU5.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.1877delT	CCDS6093.2																																																																																				0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			8	838						8	838	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	1776						8	1776	---	---	---	---
RPL37P6	346950	broad.mit.edu	37	8	57501296	57501297	+	RNA	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57501296_57501297insA	ENST00000464216.1	+	0	353_354																											GTTCTGGTTTTAAAaaatacaa	0.317																																						ENST00000464216.1																			0																																																			0							g.chr8:57501296_57501297insA																													8.37:g.57501302_57501302dupA														0	353_354	+									RNA	INS	ENST00000464216.1	37																																																																																						0.317	RP11-17A4.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351465.1			135	673						135	673	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aaafs	p.K404fs	RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1210-1212)aafs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							96.0	103.0	101.0					8																	92998419		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998419delT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1212delA	8.37:g.92998419delT	ENSP00000428543:p.Lys404fs					RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs	p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1666	-			404					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.1212delA	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		7	734						7	734	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104343656	104343657	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343656_104343657insA	ENST00000358755.4	+	7	2357_2358	c.2040_2041insA	c.(2041-2043)aaafs	p.K681fs	FZD6_ENST00000540287.1_Frame_Shift_Ins_p.K376fs|FZD6_ENST00000523739.1_Frame_Shift_Ins_p.K649fs|FZD6_ENST00000522566.1_Frame_Shift_Ins_p.K681fs	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	681					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGCAGCCTCAAAGGTTCCAC	0.45																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2038-2043)ctaaggfs		frizzled family receptor 6																																				SO:0001589	frameshift_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104343656_104343657insA	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.2043dupA	8.37:g.104343659_104343659dupA	ENSP00000351605:p.Lys681fs					FZD6_ENST00000540287.1_Frame_Shift_Ins_p.R376fs|FZD6_ENST00000523739.1_Frame_Shift_Ins_p.R649fs|FZD6_ENST00000522566.1_Frame_Shift_Ins_p.R681fs	p.R681fs	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		7	2357_2358	+			681					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Frame_Shift_Ins	INS	ENST00000358755.4	37	c.2040_2041insA	CCDS6298.1																																																																																				0.450	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		118	450						118	450	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133837585	133837586	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133837585_133837586insA	ENST00000395386.2	+	14	2012_2013	c.1713_1714insA	c.(1714-1716)aaafs	p.K572fs	PHF20L1_ENST00000395390.2_Frame_Shift_Ins_p.K547fs|PHF20L1_ENST00000220847.7_5'UTR|CTC-137K3.1_ENST00000602328.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	572	Lys-rich.						zinc ion binding (GO:0008270)	p.K545K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			agaagaagaagaaaaaaaagaa	0.297																																						ENST00000395386.2																			1	Substitution - coding silent(1)	p.K545K(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1711-1716)aaaaaafs		PHD finger protein 20-like 1																																				SO:0001589	frameshift_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133837585_133837586insA	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1721dupA	8.37:g.133837593_133837593dupA	ENSP00000378784:p.Lys572fs					PHF20L1_ENST00000395390.2_Frame_Shift_Ins_p.KK546fs|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_3'UTR	p.KK571fs	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		14	2012_2013	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		571			Lys-rich.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Ins	INS	ENST00000395386.2	37	c.1713_1714insA	CCDS6367.2																																																																																				0.297	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		8	69						8	69	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139635983	139635984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139635983_139635984insA	ENST00000303045.6	-	52	4208_4209	c.3762_3763insT	c.(3760-3765)cctggafs	p.G1255fs	COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.G1235fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1255	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGCTCTCCAGGGGGACCCG	0.436										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3760-3765)ccgagafs		collagen, type XXII, alpha 1																																				SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139635983_139635984insA	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3763dupT	8.37:g.139635984_139635984dupA	ENSP00000303153:p.Gly1255fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.R1235fs|COL22A1_ENST00000341807.4_5'UTR	p.R1255fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		52	4208_4209	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1255			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Ins	INS	ENST00000303045.6	37	c.3762_3763insT	CCDS6376.1																																																																																				0.436	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		274	1284						274	1284	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144890900	144890902	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890900_144890902delTCC	ENST00000320476.3	-	15	1998_2000	c.1992_1994delGGA	c.(1990-1995)gaggaa>gaa	p.664_665EE>E	SCRIB_ENST00000356994.2_In_Frame_Del_p.664_665EE>E|SCRIB_ENST00000377533.3_In_Frame_Del_p.583_584EE>E	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	664	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			actaccctcttcctcctcctcct	0.665																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1990-1995)gaa>ga		scribbled planar cell polarity protein																																				SO:0001651	inframe_deletion	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890900_144890902delTCC	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1992_1994delGGA	8.37:g.144890909_144890911delTCC	ENSP00000322938:p.Glu666del					SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del|SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del	p.EE664del	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1998_2000	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		664			Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	In_Frame_Del	DEL	ENST00000320476.3	37	c.1992_1994delGGA	CCDS6411.1																																																																																				0.665	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		7	297						7	297	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145001678	145001678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145001678delA	ENST00000322810.4	-	27	4236	c.4067delT	c.(4066-4068)ttgfs	p.L1356fs	PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1356	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGGCGCCCAAGGGGTCTGC	0.721																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4066-4068)tgfs		plectin							9.0	10.0	10.0					8																	145001678		1898	3994	5892	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001678delA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4067delT	8.37:g.145001678delA	ENSP00000323856:p.Leu1356fs					PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs	p.L1356fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4236	-			1356			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.4067delT	CCDS43772.1																																																																																				0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		32	162						32	162	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs376509101|rs62639301	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		14	152						14	152	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		7	380						7	380	---	---	---	---
PTPLAD2	401494	broad.mit.edu	37	9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		9	409						9	409	---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96318839	96318839	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96318839delA	ENST00000277165.6	+	13	2644	c.2450delA	c.(2449-2451)gaafs	p.E817fs	FAM120A_ENST00000340893.4_Frame_Shift_Del_p.E817fs|FAM120A_ENST00000333936.5_Frame_Shift_Del_p.E845fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	817						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCCGGGAAAAGACCCCA	0.502																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2449-2451)gafs		family with sequence similarity 120A							127.0	132.0	130.0					9																	96318839		2203	4300	6503	SO:0001589	frameshift_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96318839delA	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2450delA	9.37:g.96318839delA	ENSP00000277165:p.Glu817fs					FAM120A_ENST00000333936.5_Frame_Shift_Del_p.E845fs|FAM120A_ENST00000340893.4_Frame_Shift_Del_p.E817fs	p.E817fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			13	2644	+			817					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Frame_Shift_Del	DEL	ENST00000277165.6	37	c.2450delA	CCDS6706.1																																																																																				0.502	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		147	899						147	899	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106864318	106864319	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106864318_106864319insT	ENST00000286398.7	+	8	1002_1003	c.714_715insT	c.(715-717)tttfs	p.F239fs	SMC2_ENST00000374793.3_Frame_Shift_Ins_p.F239fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.F239fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.F239fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	239					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTGCTTATCAGTTTTTGCTGGC	0.332																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(712-717)cattttfs		structural maintenance of chromosomes 2																																				SO:0001589	frameshift_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106864318_106864319insT	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.719dupT	9.37:g.106864323_106864323dupT	ENSP00000286398:p.Phe239fs					SMC2_ENST00000303219.8_Frame_Shift_Ins_p.HF238fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.HF238fs|SMC2_ENST00000374793.3_Frame_Shift_Ins_p.HF238fs	p.HF238fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			8	1002_1003	+			238					Q6IEE0|Q9P1P2	Frame_Shift_Ins	INS	ENST00000286398.7	37	c.714_715insT	CCDS35086.1																																																																																				0.332	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			72	417						72	417	---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124522389_124522391delAAG	ENST00000408936.3	+	6	1023_1025	c.841_843delAAG	c.(841-843)aagdel	p.K285del	DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	285	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(841-843)del		DAB2 interacting protein																																				SO:0001651	inframe_deletion	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522389_124522391delAAG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.841_843delAAG	9.37:g.124522398_124522400delAAG	ENSP00000386183:p.Lys285del					DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del|DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del	p.K285del			Q5VWQ8	DAB2P_HUMAN			6	1023_1025	+			285			C2.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	In_Frame_Del	DEL	ENST00000408936.3	37	c.841_843delAAG																																																																																					0.601	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		9	371						9	371	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133928274	133928274	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928274delC	ENST00000361069.4	+	11	1994	c.1861delC	c.(1861-1863)cccfs	p.P622fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	622	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTCCACTGCCCCCCTTCCA	0.667											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1861-1863)ccfs		laminin, gamma 3							47.0	44.0	45.0					9																	133928274		2203	4300	6503	SO:0001589	frameshift_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928274delC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1861delC	9.37:g.133928274delC	ENSP00000354360:p.Pro622fs		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.P622fs	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	11	1994	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	622			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Frame_Shift_Del	DEL	ENST00000361069.4	37	c.1861delC	CCDS6938.1																																																																																				0.667	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		30	372						30	372	---	---	---	---
AK8	158067	broad.mit.edu	37	9	135753606	135753607	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135753606_135753607insG	ENST00000298545.3	-	1	557_558	c.36_37insC	c.(34-39)cccgagfs	p.E13fs	C9orf9_ENST00000372136.3_5'UTR|AK8_ENST00000477396.1_5'UTR|C9orf9_ENST00000350499.6_5'Flank|C9orf9_ENST00000356311.5_5'Flank	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	13					nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E13fs*14(2)|p.E13fs*40(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGGGGCATCTCGGGGGGGATAC	0.693																																						ENST00000298545.3																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.E13fs*14(2)|p.E13fs*40(2)	large_intestine(2)|pancreas(2)	NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(34-39)ccagatfs		adenylate kinase 8																																				SO:0001589	frameshift_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135753606_135753607insG	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.37dupC	9.37:g.135753613_135753613dupG	ENSP00000298545:p.Glu13fs					C9orf9_ENST00000372136.3_5'UTR|AK8_ENST00000477396.1_5'UTR	p.D13fs	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			1	557_558	-			13					A8K821|Q8N9W9	Frame_Shift_Ins	INS	ENST00000298545.3	37	c.36_37insC	CCDS6954.1																																																																																				0.693	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		31	229						31	229	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-	rs376810326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_ENST00000321773.2_In_Frame_Del_p.553_554EE>E|TPRN_ENST00000541945.1_5'Flank	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	614	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596																																						ENST00000409012.4																			1	Deletion - In frame(1)	p.E315delE(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1840-1845)gaa>ga		taperin																																				SO:0001651	inframe_deletion	286262				sensory perception of sound	stereocilium		g.chr9:140087025_140087027delTCC	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1842_1844delGGA	9.37:g.140087034_140087036delTCC	ENSP00000387100:p.Glu621del					TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	p.EE620del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			2	1928_1930	-			620			Glu-rich.		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Del	DEL	ENST00000409012.4	37	c.1842_1844delGGA	CCDS56594.1																																																																																				0.596	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		8	136						8	136	---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17636369	17636370	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636369_17636370insA	ENST00000361271.3	-	6	655_656	c.618_619insT	c.(616-621)tttatcfs	p.I207fs		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	207					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						TATAAGATGATAAAAAAATTAT	0.312																																						ENST00000361271.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						c.(616-621)tttcatfs		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A																																				SO:0001589	frameshift_variant	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17636369_17636370insA	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.619dupT	10.37:g.17636376_17636376dupA	ENSP00000355308:p.Ile207fs						p.H207fs	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN			6	655_656	-			207					B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Frame_Shift_Ins	INS	ENST00000361271.3	37	c.618_619insT	CCDS7121.1																																																																																				0.312	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		30	203						30	203	---	---	---	---
LYZL1	84569	broad.mit.edu	37	10	29599965	29599965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29599965delA	ENST00000375500.3	+	5	619	c.562delA	c.(562-564)aaafs	p.K189fs		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	143					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GTCCGAGTGGAAAAAAGGCTG	0.512																																						ENST00000375500.3																			0				central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(562-564)aafs		lysozyme-like 1							204.0	196.0	199.0					10																	29599965		2203	4300	6503	SO:0001589	frameshift_variant	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29599965delA		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.562delA	10.37:g.29599965delA	ENSP00000364650:p.Lys189fs						p.K189fs	NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN			5	619	+		Breast(68;0.203)	143					Q5T921|Q8WW16	Frame_Shift_Del	DEL	ENST00000375500.3	37	c.562delA	CCDS31174.1																																																																																				0.512	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		7	994						7	994	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34671501	34671501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34671501delT	ENST00000374789.3	-	9	1691	c.1366delA	c.(1366-1368)atafs	p.I456fs	PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	456					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTCTTGCCTATTTTTTTGGTG	0.433																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1366-1368)tafs		par-3 family cell polarity regulator							119.0	117.0	118.0					10																	34671501		2203	4300	6503	SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671501delT	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1366delA	10.37:g.34671501delT	ENSP00000363921:p.Ile456fs					PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs	p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1691	-		Breast(68;0.0707)	456					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Del	DEL	ENST00000374789.3	37	c.1366delA	CCDS7178.1																																																																																				0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		8	729						8	729	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		13	47						13	47	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		11	686						11	686	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		17	1023						17	1023	---	---	---	---
IDE	3416	broad.mit.edu	37	10	94243045	94243045	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94243045delA	ENST00000265986.6	-	14	1762	c.1706delT	c.(1705-1707)ttgfs	p.L569fs	IDE_ENST00000371581.5_Frame_Shift_Del_p.L14fs|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	569				FFL -> KKK (in Ref. 2; AAA52712). {ECO:0000305}.	beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AGCCTTCGGCAAAAAAAACTT	0.353																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(1705-1707)tgfs		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						53.0	51.0	52.0					10																	94243045		2203	4299	6502	SO:0001589	frameshift_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94243045delA	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1706delT	10.37:g.94243045delA	ENSP00000265986:p.Leu569fs					IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Frame_Shift_Del_p.L14fs	p.L569fs	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			14	1762	-			569	FFL -> KKK (in Ref. 2; AAA52712).				B2R721|B7ZAU2|D3DR35|Q5T5N2	Frame_Shift_Del	DEL	ENST00000265986.6	37	c.1706delT	CCDS7421.1																																																																																				0.353	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		7	198						7	198	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101558978	101558979	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101558978_101558979insA	ENST00000370449.4	+	8	995_996	c.882_883insA	c.(883-885)aaafs	p.K295fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	295					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.K294N(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGTTGAAAAGAAAAAAAAGAA	0.441																																						ENST00000370449.4																			1	Substitution - Missense(1)	p.K294N(1)	breast(1)	NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(880-885)aaaaaafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)																																			SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101558978_101558979insA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.890dupA	10.37:g.101558986_101558986dupA	ENSP00000359478:p.Lys295fs						p.KK294fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	995_996	+		Colorectal(252;0.234)	294					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Ins	INS	ENST00000370449.4	37	c.882_883insA	CCDS7484.1																																																																																				0.441	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	1015						7	1015	---	---	---	---
VAX1	11023	broad.mit.edu	37	10	118891804	118891804	+	IGR	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118891804delT	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Frame_Shift_Del_p.K159fs	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCTTCTTTTGTTTTTTTATCC	0.423																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(475-477)aafs		ventral anterior homeobox 1				3,4261		0,3,2129	46.0	55.0	52.0			-7.7	0.0	10		52	0,8254		0,0,4127	no	frameshift	VAX1	NM_199131.2		0,3,6256	A1A1,A1R,RR		0.0,0.0704,0.024			118891804	3,12515	2203	4300	6503	SO:0001628	intergenic_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118891804delT	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891804delT							p.K159fs	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	4	721	-			154					B1AVW5|Q6ZSX0	Frame_Shift_Del	DEL	ENST00000369206.5	37	c.477delA	CCDS44483.1																																																																																				0.423	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		34	361						34	361	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		10	863						10	863	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(121-129)del		keratin associated protein 5-5				727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651191_1651199delGGCTGTGGA	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del						p.GCG47del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159_167	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	47					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.121_129delGGCTGTGGA	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			12	606						12	606	---	---	---	---
LSP1	4046	broad.mit.edu	37	11	1905554	1905557	+	Splice_Site	DEL	GTCT	GTCT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1905554_1905557delGTCT	ENST00000311604.3	+	6	810		c.e6+1		LSP1_ENST00000406638.2_Splice_Site|LSP1_ENST00000405957.2_Splice_Site|LSP1_ENST00000381775.1_Splice_Site|LSP1_ENST00000485341.1_Splice_Site	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1						cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TAGAGAAGAGgtctgtctgtctgt	0.569																																						ENST00000406638.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.e6+1		lymphocyte-specific protein 1			,,,	3,4255		0,3,2126					,,,	3.1	0.7			63	16,8228		0,16,4106	no	splice-5,splice-5,splice-5,splice-5	LSP1	NM_002339.2,NM_001013255.1,NM_001013254.1,NM_001013253.1	,,,	0,19,6232	A1A1,A1R,RR		0.1941,0.0705,0.152	,,,	,,,		19,12483				SO:0001630	splice_region_variant	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1905554_1905557delGTCT	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.635+1GTCT>-	11.37:g.1905562_1905565delGTCT						LSP1_ENST00000311604.3_Splice_Site|LSP1_ENST00000405957.2_Splice_Site|LSP1_ENST00000381775.1_Splice_Site|LSP1_ENST00000485341.1_Splice_Site		NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	6	1751	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Splice_Site	DEL	ENST00000311604.3	37		CCDS31334.1																																																																																				0.569	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339	Intron	7	327						7	327	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7981307	7981308	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981307_7981308insT	ENST00000328600.2	-	2	2012_2013	c.1851_1852insA	c.(1849-1854)aaatgtfs	p.C618fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGAAGGACATTTTTGCTCCT	0.396																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1849-1854)aagtccfs		NLR family, pyrin domain containing 10																																				SO:0001589	frameshift_variant	338322						ATP binding	g.chr11:7981307_7981308insT	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1852dupA	11.37:g.7981312_7981312dupT	ENSP00000327763:p.Cys618fs						p.S618fs	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	2012_2013	-			618					Q2M3C4|Q6JGT0	Frame_Shift_Ins	INS	ENST00000328600.2	37	c.1851_1852insA	CCDS7784.1																																																																																				0.396	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		62	249						62	249	---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14501262	14501263	+	Splice_Site	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14501262_14501263insA	ENST00000249923.3	-	11	1513		c.e11-2		COPB1_ENST00000439561.2_Splice_Site|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1						COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTCCATTAACTAAAAGAAAAAA	0.307																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.e11-2		coatomer protein complex, subunit beta 1																																				SO:0001630	splice_region_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14501262_14501263insA	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1213-2->T	11.37:g.14501266_14501266dupA						COPB1_ENST00000439561.2_Splice_Site		NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			11	1513	-								D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Splice_Site	INS	ENST00000249923.3	37		CCDS7815.1																																																																																				0.307	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	Intron	10	140						10	140	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-	rs200015827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31812317delG	ENST00000379132.3	-	11	1404	c.1124delC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379123.5_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000419022.1_Frame_Shift_Del_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Del_p.P389fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)cafs		paired box 6							114.0	100.0	105.0					11																	31812317		2202	4299	6501	SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812317delG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1124delC	11.37:g.31812317delG	ENSP00000368427:p.Pro375fs					PAX6_ENST00000379123.5_Frame_Shift_Del_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Del_p.P389fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			13	1634	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Del	DEL	ENST00000379132.3	37	c.1166delC	CCDS31451.1																																																																																				0.587	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		9	377						9	377	---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-	rs372037631		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46001356_46001358delGTG	ENST00000418153.2	-	6	512_514	c.313_315delCAC	c.(313-315)cacdel	p.H105del	PHF21A_ENST00000257821.4_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(313-315)del		PHD finger protein 21A																																				SO:0001651	inframe_deletion	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001356_46001358delGTG	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.313_315delCAC	11.37:g.46001365_46001367delGTG	ENSP00000398824:p.His105del					PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del|PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del	p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			6	936_938	-			105			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	In_Frame_Del	DEL	ENST00000418153.2	37	c.313_315delCAC	CCDS44578.1																																																																																				0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		7	338						7	338	---	---	---	---
MS4A15	219995	broad.mit.edu	37	11	60531345	60531346	+	Frame_Shift_Ins	INS	-	-	G	rs1032939	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60531345_60531346insG	ENST00000405633.3	+	2	218_219	c.139_140insG	c.(139-141)ctgfs	p.L47fs	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.L47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	47			L -> R (in dbSNP:rs1032939). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						GGAGCCACCGCTGGGGGCACAG	0.604																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(139-141)gggfs		membrane-spanning 4-domains, subfamily A, member 15																																				SO:0001589	frameshift_variant	219995					integral to membrane	receptor activity	g.chr11:60531345_60531346insG	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		Exception_encountered	11.37:g.60531345_60531346insG	ENSP00000386022:p.Leu47fs					MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.G47fs	p.G47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			2	218_219	+			47		L -> R (in dbSNP:rs1032939).			A9UJY6|A9UJY7|F2Z2J5	Frame_Shift_Ins	INS	ENST00000405633.3	37	c.139_140insG	CCDS44617.1																																																																																				0.604	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			72	373						72	373	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65270884	65270885	+	lincRNA	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65270884_65270885insT	ENST00000534336.1	+	0	5652_5653					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GCATTTGCATCTTTAAATAATT	0.371																																						ENST00000534336.1																			0																																																			0							g.chr11:65270884_65270885insT	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270887_65270887dupT								NR_002819.2						0	5652_5653	+									RNA	INS	ENST00000534336.1	37																																																																																						0.371	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		10	226						10	226	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83641454	83641455	+	De_novo_Start_OutOfFrame	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:83641454_83641455insT	ENST00000376106.3	-	0	930_931				DLG2_ENST00000537455.1_Frame_Shift_Ins_p.P120fs|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000531015.1_Frame_Shift_Ins_p.P333fs|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.P405fs|DLG2_ENST00000524982.1_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.P305fs|DLG2_ENST00000543673.1_Frame_Shift_Ins_p.P471fs|DLG2_ENST00000398309.2_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000532653.1_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.P405fs|DLG2_ENST00000376104.2_Frame_Shift_Ins_p.P471fs			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACACTCAACAGGGGAATAGTG	0.505																																						ENST00000376106.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71								discs, large homolog 2 (Drosophila)																																						1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83641454_83641455insT	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376106.3:c.-458->A	11.37:g.83641454_83641455insT						DLG2_ENST00000543673.1_Frame_Shift_Ins_p.R471fs|DLG2_ENST00000537455.1_Frame_Shift_Ins_p.R120fs|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.R405fs|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.R305fs|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.R405fs|DLG2_ENST00000524982.1_Frame_Shift_Ins_p.R366fs|DLG2_ENST00000531015.1_Frame_Shift_Ins_p.R333fs|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000532653.1_Frame_Shift_Ins_p.R366fs|DLG2_ENST00000398309.2_Frame_Shift_Ins_p.R366fs|DLG2_ENST00000376104.2_Frame_Shift_Ins_p.R471fs				Q15700	DLG2_HUMAN			0	930_931	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)						B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Translation_Start_Site	INS	ENST00000376106.3	37		CCDS44692.1																																																																																				0.505	DLG2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001364		86	429						86	429	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89407177	89407177	+	RNA	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTTTTTTCCCCAATCTGG	0.303																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89407177delC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89407177delC										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.303	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		9	161						9	161	---	---	---	---
PIH1D2	120379	broad.mit.edu	37	11	111942466	111942467	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111942466_111942467insT	ENST00000280350.4	-	3	415_416	c.193_194insA	c.(193-195)atafs	p.I65fs	C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000530104.1_5'Flank|PIH1D2_ENST00000431456.1_Frame_Shift_Ins_p.I65fs|PIH1D2_ENST00000532211.1_Frame_Shift_Ins_p.I65fs|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000530641.1_Frame_Shift_Ins_p.I65fs|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000528775.1_Frame_Shift_Ins_p.I65fs	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	65										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GATAAAAAGTATTTTTTCTTTT	0.426																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(193-195)actfs		PIH1 domain containing 2																																				SO:0001589	frameshift_variant	120379							g.chr11:111942466_111942467insT	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.194dupA	11.37:g.111942472_111942472dupT	ENSP00000280350:p.Ile65fs					PIH1D2_ENST00000280350.4_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000532211.1_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000431456.1_Frame_Shift_Ins_p.T65fs	p.T65fs			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	3	518_519	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	65					B4DU48|E9PD82	Frame_Shift_Ins	INS	ENST00000280350.4	37	c.193_194insA	CCDS8355.1																																																																																				0.426	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		7	340						7	340	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1363-1368)tat>t		Cbl proto-oncogene, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149356_119149358delATG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1364_1366delATG	11.37:g.119149365_119149367delATG	ENSP00000264033:p.Asp460del						p.YD455del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1740_1742	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	455			Asp/Glu-rich (acidic).		A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.1364_1366delATG	CCDS8418.1																																																																																				0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		9	375						9	375	---	---	---	---
DCPS	28960	broad.mit.edu	37	11	126215354	126215354	+	Frame_Shift_Del	DEL	C	C	-	rs375647806		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215354delC	ENST00000263579.4	+	6	1189	c.860delC	c.(859-861)gccfs	p.A287fs	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	287					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GGCTTCGAGGCCCCCGGCTCA	0.637																																						ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(859-861)gcfs		decapping enzyme, scavenger							133.0	101.0	112.0					11																	126215354		2201	4298	6499	SO:0001589	frameshift_variant	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126215354delC	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.860delC	11.37:g.126215354delC	ENSP00000263579:p.Ala287fs					DCPS_ENST00000530860.1_3'UTR	p.A287fs	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	6	1189	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	287					Q8NHL8|Q9Y2S5	Frame_Shift_Del	DEL	ENST00000263579.4	37	c.860delC	CCDS8473.1																																																																																				0.637	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		7	750						7	750	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P|RP5-940J5.8_ENST00000499202.2_RNA|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		8	531						8	531	---	---	---	---
AQP5	362	broad.mit.edu	37	12	50358797	50358798	+	Frame_Shift_Ins	INS	-	-	G	rs574167227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50358797_50358798insG	ENST00000293599.6	+	4	783_784	c.635_636insG	c.(634-639)gtggggfs	p.VG212fs	AQP6_ENST00000551733.1_5'Flank|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	212					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						GGGCCCATCGTGGGGGCGGTCC	0.614																																						ENST00000293599.6																			0				large_intestine(1)|lung(3)	4						c.(634-636)gggfs		aquaporin 5																																				SO:0001589	frameshift_variant	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50358797_50358798insG	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.640dupG	12.37:g.50358802_50358802dupG	ENSP00000293599:p.Val212fs						p.G212fs	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN			4	783_784	+			212					Q6FGW8	Frame_Shift_Ins	INS	ENST00000293599.6	37	c.635_636insG	CCDS8793.1																																																																																				0.614	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		54	657						54	657	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G	rs374370282|rs369599312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.R265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.R265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579																																						ENST00000257863.4																			1	Substitution - Missense(1)	p.R265W(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(793-795)gggfs		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819644_53819645insG	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.800dupG	12.37:g.53819651_53819651dupG	ENSP00000257863:p.Arg265fs					AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs	p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			6	873_874	+			265			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Frame_Shift_Ins	INS	ENST00000257863.4	37	c.793_794insG	CCDS8858.1																																																																																				0.579	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		53	287						53	287	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																						ENST00000343399.3																			1	Deletion - Frameshift(1)	p.L200fs*1(1)	large_intestine(1)	endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(592-594)ttfs		olfactory receptor, family 6, subfamily C, member 75							154.0	133.0	140.0					12																	55759486		2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759486delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs						p.F199fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	592	+			199						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.592delT	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			9	625						9	625	---	---	---	---
RAP1B	5908	broad.mit.edu	37	12	69044201	69044202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69044201_69044202insT	ENST00000250559.9	+	3	310_311	c.79_80insT	c.(79-81)attfs	p.I27fs	RAP1B_ENST00000341355.5_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000543697.1_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000541216.1_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000393436.5_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000542145.1_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000540209.1_Frame_Shift_Ins_p.I27fs|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000537460.1_Frame_Shift_Ins_p.I27fs	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	27	Interaction with KRIT1.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGTTCAAGGAATTTTTGTAGAA	0.248																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(79-81)tttfs		RAP1B, member of RAS oncogene family																																				SO:0001589	frameshift_variant	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69044201_69044202insT		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.84dupT	12.37:g.69044206_69044206dupT	ENSP00000250559:p.Ile27fs					RAP1B_ENST00000543697.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000393436.5_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000542145.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000537460.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000540209.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000541216.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000341355.5_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000539091.1_Intron	p.F27fs	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	3	310_311	+	Breast(13;1.24e-05)		27					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Frame_Shift_Ins	INS	ENST00000250559.9	37	c.79_80insT	CCDS8984.1																																																																																				0.248	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		27	112						27	112	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104487331	104487332	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104487331_104487332insA	ENST00000229330.4	+	10	1556_1557	c.1452_1453insA	c.(1453-1455)aaafs	p.K485fs	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	485					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATATGCTAAGGAAAAATGAAGG	0.312																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1450-1455)agaaaafs		host cell factor C2																																				SO:0001589	frameshift_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487331_104487332insA	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1457dupA	12.37:g.104487336_104487336dupA	ENSP00000229330:p.Lys485fs					HCFC2_ENST00000550335.1_3'UTR	p.RK484fs	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			10	1556_1557	+			484					B2R8Q5|C0H5X3	Frame_Shift_Ins	INS	ENST00000229330.4	37	c.1452_1453insA	CCDS9097.1																																																																																				0.312	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		56	274						56	274	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122685346delC	ENST00000339777.4	+	10	1702	c.1674delC	c.(1672-1674)gacfs	p.D558fs	LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Frame_Shift_Del_p.D373fs|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCCGGCAGGACCCCCCCATCC	0.667																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1672-1674)gafs		leucine rich repeat containing 43							29.0	37.0	34.0					12																	122685346		1895	4092	5987	SO:0001589	frameshift_variant	254050							g.chr12:122685346delC	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1674delC	12.37:g.122685346delC	ENSP00000344233:p.Asp558fs					LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Frame_Shift_Del_p.D373fs	p.D558fs	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	10	1702	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		558					Q6ZVT9	Frame_Shift_Del	DEL	ENST00000339777.4	37	c.1674delC	CCDS45001.1																																																																																				0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		16	475						16	475	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				DDX55_ENST00000538744.1_Intron|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000421670.3_De_novo_Start_InFrame	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000238146.4_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			8	260						8	260	---	---	---	---
LRCOL1	100507055	broad.mit.edu	37	12	133182784	133182786	+	lincRNA	DEL	CAG	CAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133182784_133182786delCAG	ENST00000545517.1	-	0	64_66							A6NCL2	LRCL1_HUMAN	leucine rich colipase-like 1						digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CCATGGACCCcagcagcagcagc	0.65																																						ENST00000545517.1																			0													leucine rich colipase-like 1																																						100507055							g.chr12:133182784_133182786delCAG		CCDS73547.1	12q24.33	2012-07-02			ENSG00000204583	ENSG00000204583			44160	protein-coding gene	gene with protein product							Standard	NM_001195520		Approved		uc021rgr.1	A6NCL2	OTTHUMG00000168043		12.37:g.133182793_133182795delCAG														0	64_66	-								H9BFB1	RNA	DEL	ENST00000545517.1	37																																																																																						0.650	LRCOL1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000397683.1	NM_001195520		2	4						2	4	---	---	---	---
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-	rs369428918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TCTGGCCTGAGTGTGTGTGTGT	0.46																																						ENST00000428783.1																			0																																																			0							g.chr13:32527507_32527508delGT			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527517_32527518delGT														0	1207_1208	+								Q08AR3	RNA	DEL	ENST00000428783.1	37																																																																																						0.460	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		7	399						7	399	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32913836	32913837	+	Frame_Shift_Ins	INS	-	-	A	rs80358757|rs80359508|rs80359509|rs80359507|rs80359506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913836_32913837insA	ENST00000380152.3	+	11	5577_5578	c.5344_5345insA	c.(5344-5346)caafs	p.Q1782fs	BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.Q1782fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1782					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N1784fs*7(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAAGATCAAAAAAACACT	0.322			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		1	Deletion - Frameshift(1)	p.N1784fs*7(1)	large_intestine(1)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CM067354	BRCA2	M	rs80358757	c.(5344-5346)aaafs	Homologous recombination	breast cancer 2, early onset																																				SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913836_32913837insA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5351dupA	13.37:g.32913843_32913843dupA	ENSP00000369497:p.Gln1782fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.K1782fs	p.K1782fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5571_5572	+		Lung SC(185;0.0262)	1782					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Ins	INS	ENST00000380152.3	37	c.5344_5345insA	CCDS9344.1																																																																																				0.322	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		50	207						50	207	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	392						7	392	---	---	---	---
ALG11	440138	broad.mit.edu	37	13	52602503	52602504	+	Frame_Shift_Ins	INS	-	-	G	rs201526759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52602503_52602504insG	ENST00000521508.1	+	4	1261_1262	c.1256_1257insG	c.(1255-1260)tcggggfs	p.SG419fs	ALG11_ENST00000523764.1_Frame_Shift_Ins_p.G32fs|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.S419S(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCACACAATTCGGGGGGCCCAA	0.426																																						ENST00000521508.1																			1	Substitution - coding silent(1)	p.S419S(1)	lung(1)	endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(1255-1257)tggfs		ALG11, alpha-1,2-mannosyltransferase																																				SO:0001589	frameshift_variant	440138							g.chr13:52602503_52602504insG	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.1262dupG	13.37:g.52602509_52602509dupG	ENSP00000430236:p.Ser419fs					UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000523764.1_Frame_Shift_Ins_p.LG31fs|ALG11_ENST00000519151.1_3'UTR	p.W419fs	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	4	1261_1262	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Frame_Shift_Ins	INS	ENST00000521508.1	37	c.1256_1257insG	CCDS31977.1																																																																																				0.426	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		87	564						87	564	---	---	---	---
SLAIN1	122060	broad.mit.edu	37	13	78320722	78320722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78320722delA	ENST00000466548.1	+	5	950	c.924delA	c.(922-924)ggafs	p.G308fs	SLAIN1_ENST00000351546.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000358679.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000418532.1_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000488699.1_Frame_Shift_Del_p.G166fs|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000267219.8_Frame_Shift_Del_p.G89fs	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	308										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TGAGTTCAGGAAAAAAAGGGA	0.388																																						ENST00000466548.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(922-924)ggfs		SLAIN motif family, member 1							130.0	118.0	122.0					13																	78320722		2203	4300	6503	SO:0001589	frameshift_variant	122060							g.chr13:78320722delA	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.924delA	13.37:g.78320722delA	ENSP00000419730:p.Gly308fs					SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000351546.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000267219.8_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000418532.1_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000358679.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000488699.1_Frame_Shift_Del_p.G166fs	p.G308fs	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	5	950	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	308					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Frame_Shift_Del	DEL	ENST00000466548.1	37	c.924delA																																																																																					0.388	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		7	417						7	417	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	479						8	479	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650|rs11408894|rs535957758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		GACTCTTTTTTAAAAAAACAGG	0.45														60	0.0119808	0.0106	0.0072	5008	,	,		19441	0.0149		0.0219	False		,,,				2504	0.0041					ENST00000390453.1																			0																																																			0							g.chr14:22573825_22573826insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573832_22573832dupA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		11	78						11	78	---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1072-1074)aaafs	p.K358fs	G2E3_ENST00000553504.1_Frame_Shift_Ins_p.K388fs|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.K312fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1069-1074)ataaaafs		G2/M-phase specific E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074771_31074772insA	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1081dupA	14.37:g.31074781_31074781dupA	ENSP00000206595:p.Lys358fs					G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000544007.1_Intron	p.IK357fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1225_1226	+			357					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Ins	INS	ENST00000206595.6	37	c.1071_1072insA	CCDS9638.1																																																																																				0.272	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		7	111						7	111	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		8	206						8	206	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-	rs201949704|rs370943979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	310						8	310	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		8	269						8	269	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		9	1166						9	1166	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25337049	25337050	+	RNA	DEL	GA	GA	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25337049_25337050delGA	ENST00000546682.1	+	0	969				SNHG14_ENST00000549804.2_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000384430.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTGGAGCTGGAGAGAGAGAGA	0.5																																						ENST00000546682.1																			0																	2,2680		1,0,1340						-3.0	0.0			129	8,5082		4,0,2541	no	intergenic				5,0,3881	A1A1,A1R,RR		0.1572,0.0746,0.1287				10,7762						0							g.chr15:25337049_25337050delGA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25337059_25337060delGA						SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	969	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.500	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			7	572						7	572	---	---	---	---
RP11-143J24.1	0	broad.mit.edu	37	15	30298640	30298641	+	lincRNA	INS	-	-	T	rs546589979	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30298640_30298641insT	ENST00000561392.1	-	0	138																											ACTGAGGTAAATTTTTTTTTCT	0.366																																						ENST00000561392.1																			0																																																			0							g.chr15:30298640_30298641insT																													15.37:g.30298649_30298649dupT														0	138	-									RNA	INS	ENST00000561392.1	37																																																																																						0.366	RP11-143J24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417288.1			30	160						30	160	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		13	1051						13	1051	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	-	TGGGTCC			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79058183_79058184insTGGGTCC	ENST00000388820.4	-	19	4279_4280	c.4069_4070insGGACCCA	c.(4069-4071)aagfs	p.K1357fs	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1357					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGCTGACCCTTGGGTCCTGGG	0.653																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4069-4071)gggfs		ADAM metallopeptidase with thrombospondin type 1 motif, 7				119,2525		11,97,1214						-5.9	0.0			8	119,5765		2,115,2825	no	frameshift	ADAMTS7	NM_014272.3		13,212,4039	A1A1,A1R,RR		2.0224,4.5008,2.7908				238,8290				SO:0001589	frameshift_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058183_79058184insTGGGTCC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4063_4069dupGGACCCA	15.37:g.79058184_79058190dupTGGGTCC	ENSP00000373472:p.Lys1357fs						p.-1357fs	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	4279_4280	-								Q14F51|Q6P7J9	Frame_Shift_Ins	INS	ENST00000388820.4	37	c.4069_4070insGGACCCA	CCDS32303.1																																																																																				0.653	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		9	109						9	109	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-	rs535146949|rs548644616|rs373234755	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314									DNM1 pseudogene 51																		TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557														177	0.0353435	0.0015	0.0403	5008	,	,		20334	0.0198		0.0905	False		,,,				2504	0.0368					ENST00000558801.1																			0																																																			0							g.chr15:84958415_84958426delCGAGGACATTGG			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84958415_84958426delCGAGGACATTGG														0	6303_6314	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.557	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			8	81						8	81	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595|rs28546919|rs200021459|rs199821487	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	199	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783																																						ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(547-558)del		mesoderm posterior 2 homolog (mouse)																																				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320135_90320146delGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.547_558delGGGCAGGGGCAG	15.37:g.90320135_90320146delGGGCAGGGGCAG	ENSP00000342392:p.Gly199_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.GQGQ199del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	547_558	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		199			13 X 2 AA tandem repeats of G-Q.		Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.547_558delGGGCAGGGGCAG	CCDS42078.1																																																																																				0.783	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		16	23						16	23	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			7	165						7	165	---	---	---	---
MEF2A	4205	broad.mit.edu	37	15	100185786	100185787	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100185786_100185787insT	ENST00000557785.1	+	4	424_425	c.75_76insT	c.(76-78)tttfs	p.F26fs	MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557942.1_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000338042.6_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000354410.5_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000453228.2_Frame_Shift_Ins_p.F26fs|MEF2A_ENST00000558856.1_Intron	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	26	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CAAAGAGAAAGTTTGGATTAAT	0.317																																						ENST00000354410.5																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(73-78)aattggfs		myocyte enhancer factor 2A																																				SO:0001589	frameshift_variant	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100185786_100185787insT		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.78dupT	15.37:g.100185789_100185789dupT	ENSP00000453441:p.Phe26fs					MEF2A_ENST00000557785.1_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000557942.1_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000338042.6_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000453228.2_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000558812.1_Intron	p.W26fs	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	704_705	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		26			Lys-rich (basic).|MADS-box.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Frame_Shift_Ins	INS	ENST00000557785.1	37	c.75_76insT	CCDS53978.1																																																																																				0.317	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			70	332						70	332	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	593						8	593	---	---	---	---
TIGD7	91151	broad.mit.edu	37	16	3350471	3350472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3350471_3350472insT	ENST00000396862.1	-	2	1971_1972	c.143_144insA	c.(142-144)aatfs	p.N48fs	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Frame_Shift_Ins_p.N48fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	48	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTAACTTCTTATTTTTTTTAAT	0.361																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(142-144)aaafs		tigger transposable element derived 7																																				SO:0001589	frameshift_variant	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350471_3350472insT	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.144dupA	16.37:g.3350479_3350479dupT	ENSP00000380071:p.Asn48fs					TIGD7_ENST00000268674.2_Frame_Shift_Ins_p.K48fs	p.K48fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	1971_1972	-			48			HTH psq-type.		Q9BXZ0	Frame_Shift_Ins	INS	ENST00000396862.1	37	c.143_144insA	CCDS10500.1																																																																																				0.361	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		7	695						7	695	---	---	---	---
MIR193BHG	100129781	broad.mit.edu	37	16	14403311	14403312	+	lincRNA	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14403311_14403312insA	ENST00000570945.1	+	0	310				MIR365A_ENST00000362260.1_RNA																							AGCTGTTCCCCAAACTCTTCCG	0.51																																						ENST00000570945.1																			0																																																			0							g.chr16:14403311_14403312insA																													16.37:g.14403314_14403314dupA														0	310	+									RNA	INS	ENST00000570945.1	37																																																																																						0.510	RP11-65J21.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436878.1			10	23						10	23	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-	rs373504496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.64																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(337-339)del		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001651	inframe_deletion	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28931200_28931202delCTG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.337_339delCAG	16.37:g.28931209_28931211delCTG	ENSP00000350934:p.Gln113del					RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del	p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			3	925_927	-			113			Poly-Gln.			In_Frame_Del	DEL	ENST00000358201.4	37	c.337_339delCAG	CCDS42140.1																																																																																				0.640	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		8	370						8	370	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)ctgdel	p.L974del	TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2905-2907)del		TAO kinase 2			,	25,3845		3,19,1913					,	-6.7	0.0			32	41,7581		7,27,3777	no	coding,intron	TAOK2	NM_016151.2,NM_004783.2	,	10,46,5690	A1A1,A1R,RR		0.5379,0.646,0.5743	,	,		66,11426				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998498_29998500delCTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2905_2907delCTG	16.37:g.29998507_29998509delCTG	ENSP00000310094:p.Leu974del					TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron	p.L974del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3948_3950	+			974			Leu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.2905_2907delCTG	CCDS10663.1																																																																																				0.709	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		9	615						9	615	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745331	50745331	+	Frame_Shift_Del	DEL	G	G	-	rs104895434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745331delG	ENST00000300589.2	+	4	1614	c.1509delG	c.(1507-1509)gagfs	p.E503fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	503	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTGCAGGAGGGGGGGTCCC	0.577																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1507-1509)gafs		nucleotide-binding oligomerization domain containing 2				5,4259		0,5,2127	63.0	65.0	64.0			0.5	0.0	16		64	7,8245		0,7,4119	no	frameshift	NOD2	NM_022162.1		0,12,6246	A1A1,A1R,RR		0.0848,0.1173,0.0959			50745331	12,12504	2198	4300	6498	SO:0001589	frameshift_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745331delG	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1509delG	16.37:g.50745331delG	ENSP00000300589:p.Glu503fs						p.E503fs	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1614	+		all_cancers(37;0.0156)	503			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Del	DEL	ENST00000300589.2	37	c.1509delG	CCDS10746.1																																																																																				0.577	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		9	698						9	698	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129|rs372299573	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		9	346						9	346	---	---	---	---
MT1L	4500	broad.mit.edu	37	16	56652490	56652490	+	RNA	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56652490delT	ENST00000565768.1	+	0	181					NR_001447.2		Q93083	MT1L_HUMAN	metallothionein 1L (gene/pseudogene)						cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										TCACTCTCCCTTTTCCCCCAG	0.607																																						ENST00000565768.1																			0													metallothionein 1L (gene/pseudogene)																																						4500							g.chr16:56652490delT	X97261		16q13	2012-04-20	2007-03-02		ENSG00000260549	ENSG00000260549		"""Metallothioneins"""	7404	protein-coding gene	gene with protein product		156358		MT1		16395595, 8049263, 9074634	Standard	NR_001447		Approved	MTF, MT1R	uc002ejj.4	Q93083	OTTHUMG00000176212		16.37:g.56652490delT								NR_001447.2						0	181	+									RNA	DEL	ENST00000565768.1	37																																																																																						0.607	MT1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000434383.1			7	1281						7	1281	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58589340	58589340	+	Frame_Shift_Del	DEL	A	A	-	rs551585966		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58589340delA	ENST00000317147.5	-	21	3038	c.2706delT	c.(2704-2706)tttfs	p.F902fs	CNOT1_ENST00000569240.1_Frame_Shift_Del_p.F897fs|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.F902fs|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	902	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GATACTGGGGAAAAAAACGAT	0.373																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2704-2706)ttfs		CCR4-NOT transcription complex, subunit 1							157.0	152.0	154.0					16																	58589340		2198	4300	6498	SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589340delA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2706delT	16.37:g.58589340delA	ENSP00000320949:p.Phe902fs					CNOT1_ENST00000441024.2_Frame_Shift_Del_p.F902fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.F897fs|CNOT1_ENST00000569732.1_5'UTR	p.F902fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3038	-			902					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.2706delT	CCDS10799.1																																																																																				0.373	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		13	809						13	809	---	---	---	---
AC012322.1	0	broad.mit.edu	37	16	64294939	64294940	+	lincRNA	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:64294939_64294940insT	ENST00000561657.1	-	0	584																											TATTTTCTTTCTTTTTTTTTAA	0.396																																						ENST00000561657.1																			0																																																			0							g.chr16:64294939_64294940insT																													16.37:g.64294948_64294948dupT														0	584	-									RNA	INS	ENST00000561657.1	37																																																																																						0.396	AC012322.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420578.1			7	209						7	209	---	---	---	---
CTRL	1506	broad.mit.edu	37	16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139.0	137.0	138.0					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			7	715						7	715	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229.0	242.0	238.0					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		11	1993						11	1993	---	---	---	---
HPR	3250	broad.mit.edu	37	16	72107680	72107681	+	Intron	DEL	TG	TG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72107680_72107681delTG	ENST00000540303.2	+	2	37				HPR_ENST00000228226.8_Frame_Shift_Del_p.V3fs|HPR_ENST00000356967.5_Intron|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein							blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				tgtgtatgcatgtgtgtgtgtg	0.51																																						ENST00000228226.8																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(4-9)catgfs		haptoglobin-related protein																																				SO:0001627	intron_variant	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72107680_72107681delTG	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.6-110TG>-	16.37:g.72107690_72107691delTG						HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Intron|HPR_ENST00000540303.2_Intron	p.HV2fs			P00739	HPTR_HUMAN			1	6_7	+		Ovarian(137;0.125)	0					Q7LE20|Q92658|Q92659|Q9ULB0	Frame_Shift_Del	DEL	ENST00000540303.2	37	c.6_7delTG	CCDS42193.1																																																																																				0.510	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		7	180						7	180	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5																			1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gct>g		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del					ZFHX3_ENST00000397992.5_Intron	p.VA777del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	651						13	651	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		10	621						10	621	---	---	---	---
ZBTB4	57659	broad.mit.edu	37	17	7366349	7366351	+	In_Frame_Del	DEL	TCC	TCC	-	rs375158389		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366349_7366351delTCC	ENST00000311403.4	-	4	2289_2291	c.1950_1952delGGA	c.(1948-1953)gaggat>gat	p.E650del	ZBTB4_ENST00000380599.4_In_Frame_Del_p.E650del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	650	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		Ttcctcctcatcctcctcctcct	0.606																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1948-1953)gat>ga		zinc finger and BTB domain containing 4			,	19,4245		2,15,2115					,	-10.2	0.0			53	24,8228		5,14,4107	no	coding,coding	ZBTB4	NM_020899.3,NM_001128833.1	,	7,29,6222	A1A1,A1R,RR		0.2908,0.4456,0.3436	,	,		43,12473				SO:0001651	inframe_deletion	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366349_7366351delTCC	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1950_1952delGGA	17.37:g.7366358_7366360delTCC	ENSP00000307858:p.Glu650del					ZBTB4_ENST00000380599.4_In_Frame_Del_p.ED650del	p.ED650del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2289_2291	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	650			Glu-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	In_Frame_Del	DEL	ENST00000311403.4	37	c.1950_1952delGGA	CCDS11107.1																																																																																				0.606	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		7	302						7	302	---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7606714	7606715	+	Frame_Shift_Ins	INS	-	-	G	rs146634933	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7606714_7606715insG	ENST00000316024.5	+	10	3905_3906	c.1557_1558insG	c.(1558-1560)gggfs	p.G520fs	WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.G487fs|EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.G520fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.G520fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.G520fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	520					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGCC	0.599																																						ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(1555-1560)tgggggfs		WD repeat containing, antisense to TP53																																				SO:0001589	frameshift_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606714_7606715insG	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1564dupG	17.37:g.7606721_7606721dupG	ENSP00000324203:p.Gly520fs					WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs	p.WG519fs			Q9BUR4	WAP53_HUMAN			10	3905_3906	+			519					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Frame_Shift_Ins	INS	ENST00000316024.5	37	c.1557_1558insG	CCDS11119.1																																																																																				0.599	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		7	415						7	415	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751765	7751765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751765delC	ENST00000448097.2	+	11	2490	c.2159delC	c.(2158-2160)gccfs	p.A720fs	KDM6B_ENST00000254846.5_Frame_Shift_Del_p.A720fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	720	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGGCGTGGCCCCCCAACCC	0.582																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2158-2160)gcfs		lysine (K)-specific demethylase 6B							81.0	95.0	90.0					17																	7751765		2203	4300	6503	SO:0001589	frameshift_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751765delC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2159delC	17.37:g.7751765delC	ENSP00000412513:p.Ala720fs					KDM6B_ENST00000448097.2_Frame_Shift_Del_p.A720fs	p.A720fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2548	+			720			Pro-rich.		C9IZ40|Q96G33	Frame_Shift_Del	DEL	ENST00000448097.2	37	c.2159delC																																																																																					0.582	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		13	908						13	908	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7794054	7794055	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7794054_7794055insA	ENST00000330494.7	+	3	529_530	c.379_380insA	c.(379-381)caafs	p.Q127fs	CHD3_ENST00000380358.4_Frame_Shift_Ins_p.Q186fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Q127fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	127					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGATGGGGGGCAAAAGGTGAGT	0.51																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(556-558)aaafs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7794054_7794055insA	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.383dupA	17.37:g.7794058_7794058dupA	ENSP00000332628:p.Gln127fs					CHD3_ENST00000330494.7_Frame_Shift_Ins_p.K127fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.K127fs	p.K186fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			3	557_558	+		Prostate(122;0.202)	127					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.556_557insA	CCDS32554.1																																																																																				0.510	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		22	86						22	86	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7801857_7801859delAAG	ENST00000330494.7	+	13	2245_2247	c.2095_2097delAAG	c.(2095-2097)aagdel	p.K703del	CHD3_ENST00000380358.4_In_Frame_Del_p.K762del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Poly-Lys.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2272-2274)del		chromodomain helicase DNA binding protein 3			,,	1,4263		0,1,2131					,,	-0.1	1.0			78	5,8249		0,5,4122	no	coding,coding,coding	CHD3	NM_005852.3,NM_001005273.2,NM_001005271.2	,,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,,	,,		6,12512				SO:0001651	inframe_deletion	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7801857_7801859delAAG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2095_2097delAAG	17.37:g.7801866_7801868delAAG	ENSP00000332628:p.Lys703del					CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	p.K762del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			13	2273_2275	+		Prostate(122;0.202)	703			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000330494.7	37	c.2272_2274delAAG	CCDS32554.1																																																																																				0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		11	258						11	258	---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8792116	8792118	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8792116_8792118delCCT	ENST00000447110.1	-	10	1110_1112	c.986_988delAGG	c.(985-990)gaggtg>gtg	p.E329del	PIK3R5_ENST00000581552.1_In_Frame_Del_p.E329del|PIK3R5_ENST00000584803.1_In_Frame_Del_p.E329del	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	329				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcctcctccacctcctcctcctc	0.571																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(985-990)gtg>g		phosphoinositide-3-kinase, regulatory subunit 5																																				SO:0001651	inframe_deletion	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792116_8792118delCCT	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.986_988delAGG	17.37:g.8792125_8792127delCCT	ENSP00000392812:p.Glu329del					PIK3R5_ENST00000581552.1_In_Frame_Del_p.EV329del|PIK3R5_ENST00000584803.1_In_Frame_Del_p.EV329del	p.EV329del	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1110_1112	-			329	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	In_Frame_Del	DEL	ENST00000447110.1	37	c.986_988delAGG	CCDS11147.1																																																																																				0.571	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		7	216						7	216	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		8	702						8	702	---	---	---	---
LRRC37BP1	147172	broad.mit.edu	37	17	28960996	28960997	+	RNA	INS	-	-	TC	rs535345037|rs200505543|rs199547031	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28960996_28960997insTC	ENST00000417404.1	+	0	1269									leucine rich repeat containing 37B pseudogene 1																		tttttctttttttttttttttt	0.302																																						ENST00000417404.1																			0																																																			0							g.chr17:28960996_28960997insTC	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960996_28960997insTC						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1269	+									RNA	INS	ENST00000417404.1	37																																																																																						0.302	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		30	106						30	106	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29096087	29096087	+	RNA	DEL	T	T	-	rs199852971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29096087delT	ENST00000582557.1	+	0	1381																											ATATTGGTAATTTTTTTTTTT	0.343																																						ENST00000582557.1																			0																																																			0							g.chr17:29096087delT																													17.37:g.29096087delT														0	1381	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.343	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			8	122						8	122	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29161693	29161693	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29161693delA	ENST00000321990.4	+	2	972	c.594delA	c.(592-594)acafs	p.T198fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	198					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGGGACCACAAAAAATGACT	0.338																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(592-594)acfs		ATPase family, AAA domain containing 5							70.0	77.0	75.0					17																	29161693		2199	4299	6498	SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161693delA		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.594delA	17.37:g.29161693delA	ENSP00000313171:p.Thr198fs					CTD-2349P21.11_ENST00000580873.1_RNA	p.T198fs	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	972	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	198					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	c.594delA	CCDS11260.1																																																																																				0.338	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		16	539						16	539	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29486049	29486050	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29486049_29486050insA	ENST00000358273.4	+	3	609_610	c.226_227insA	c.(226-228)gaafs	p.E76fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.E76fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.E76fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	76					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.E76fs*31(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAGCTGCTGAAAAAAATTTA	0.327			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Insertion - Frameshift(1)	p.0?(8)|p.?(4)|p.E76fs*31(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(226-228)aaafs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29486049_29486050insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.233dupA	17.37:g.29486056_29486056dupA	ENSP00000351015:p.Glu76fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.K76fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.K76fs	p.K76fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	3	609_610	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	76					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.226_227insA	CCDS42292.1																																																																																				0.327	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		28	328						28	328	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29661916	29661917	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661916_29661917insT	ENST00000358273.4	+	40	6256_6257	c.5873_5874insT	c.(5872-5877)cgttttfs	p.RF1958fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000356175.3_Frame_Shift_Ins_p.RF1937fs|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1958					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCTAGTTCGTTTTTGCAAGC	0.356			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5872-5874)cttfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29661916_29661917insT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5878dupT	17.37:g.29661921_29661921dupT	ENSP00000351015:p.Arg1958fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.L1937fs|NF1_ENST00000581113.2_3'UTR	p.L1958fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6256_6257	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1958					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.5873_5874insT	CCDS42292.1																																																																																				0.356	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		62	275						62	275	---	---	---	---
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)cagfs	p.Q521fs	HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.Q495fs|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1561-1563)gtafs		HNF1 homeobox B																																				SO:0001589	frameshift_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36059173_36059174insG	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1562dupC	17.37:g.36059180_36059180dupG	ENSP00000225893:p.Gln521fs					HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs	p.V521fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		8	1922_1923	-		Breast(25;0.00765)|Ovarian(249;0.15)	521					B4DKM3|E0YMJ9	Frame_Shift_Ins	INS	ENST00000225893.4	37	c.1561_1562insC	CCDS11324.1																																																																																				0.515	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		31	310						31	310	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																						ENST00000584437.1																			1	Deletion - Frameshift(1)	p.G659fs*41(1)	large_intestine(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1975-1977)gtfs		ring finger protein 43							64.0	77.0	72.0					17																	56435161		2203	4299	6502	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435161delC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs					RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs	p.G659fs			Q68DV7	RNF43_HUMAN			8	3931	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.1976delG	CCDS11607.1																																																																																				0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		11	974						11	974	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74015643	74015643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74015643delG	ENST00000301607.3	-	10	1356	c.1103delC	c.(1102-1104)cctfs	p.P368fs	EVPL_ENST00000586740.1_Frame_Shift_Del_p.P368fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	368	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGGCGCCAGGGGGGCCCCC	0.612																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1102-1104)ctfs		envoplakin							37.0	41.0	40.0					17																	74015643		2203	4300	6503	SO:0001589	frameshift_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74015643delG	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1103delC	17.37:g.74015643delG	ENSP00000301607:p.Pro368fs					EVPL_ENST00000586740.1_Frame_Shift_Del_p.P368fs	p.P368fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			10	1356	-			368			Globular 1.		A0AUV5	Frame_Shift_Del	DEL	ENST00000301607.3	37	c.1103delC	CCDS11737.1																																																																																				0.612	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		21	211						21	211	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		12	276						12	276	---	---	---	---
RBBP8	5932	broad.mit.edu	37	18	20572853	20572853	+	Frame_Shift_Del	DEL	A	A	-	rs200956310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20572853delA	ENST00000399722.2	+	11	1414	c.1063delA	c.(1063-1065)aaafs	p.K357fs	RBBP8_ENST00000399725.2_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000360790.5_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000327155.5_Frame_Shift_Del_p.K357fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	357			K -> N (in dbSNP:rs34678569).		blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ACAGCCTGGGAAAAAAAAACA	0.363								Homologous recombination																														ENST00000399722.2																			4	Substitution - Missense(2)|Deletion - Frameshift(2)	p.K357fs*3(2)|p.K355E(2)	ovary(2)|central_nervous_system(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1063-1065)aafs	Homologous recombination	retinoblastoma binding protein 8																																				SO:0001589	frameshift_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572853delA	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1063delA	18.37:g.20572853delA	ENSP00000382628:p.Lys357fs					RBBP8_ENST00000360790.5_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000327155.5_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000399725.2_Frame_Shift_Del_p.K357fs	p.K357fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1414	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		357		K -> N (in dbSNP:rs34678569).			A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Del	DEL	ENST00000399722.2	37	c.1063delA	CCDS11875.1																																																																																				0.363	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		11	499						11	499	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21444821	21444822	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21444821_21444822insA	ENST00000313654.9	+	36	4898_4899	c.4657_4658insA	c.(4657-4659)gaafs	p.E1553fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.E1553fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1553	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGTTCTTCTGGAAAAGAAGCCG	0.446																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4657-4659)aaafs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21444821_21444822insA	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4661dupA	18.37:g.21444825_21444825dupA	ENSP00000324532:p.Glu1553fs					LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.K1553fs	p.K1553fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			36	4898_4899	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1553			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Ins	INS	ENST00000313654.9	37	c.4657_4658insA	CCDS42419.1																																																																																				0.446	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		27	266						27	266	---	---	---	---
GAREM	64762	broad.mit.edu	37	18	29972971	29972971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29972971delT	ENST00000269209.6	-	2	152	c.149delA	c.(148-150)aatfs	p.N50fs	GAREM_ENST00000399218.4_Frame_Shift_Del_p.N50fs			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	50	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CAGATAGTCATTTTCCCGCAG	0.438																																						ENST00000399218.4																			0											c.(148-150)atfs		GRB2 associated, regulator of MAPK1							132.0	113.0	119.0					18																	29972971		2203	4300	6503	SO:0001589	frameshift_variant	64762							g.chr18:29972971delT	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.149delA	18.37:g.29972971delT	ENSP00000269209:p.Asn50fs					GAREM_ENST00000269209.6_Frame_Shift_Del_p.N50fs	p.N50fs	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					2	204	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Frame_Shift_Del	DEL	ENST00000269209.6	37	c.149delA	CCDS56057.1																																																																																				0.438	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		82	318						82	318	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30913143	30913143	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30913143delT	ENST00000383096.3	-	10	1056	c.874delA	c.(874-876)atgfs	p.M292fs	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000583930.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000402325.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579947.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000300227.8_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000406524.2_Frame_Shift_Del_p.M292fs			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	292								p.M292fs*3(2)									TTTACCTCCATTTTTTTTTTA	0.318																																						ENST00000383096.3																			2	Deletion - Frameshift(2)	p.M292fs*3(2)	lung(2)								c.(874-876)tgfs		coiled-coil domain containing 178			,	7,25,4232		0,0,7,1,23,2101	83.0	81.0	82.0		,	-10.6	0.0	18		83	4,25,8225		0,0,4,1,23,4099	no	codingComplex,codingComplex	C18orf34	NM_198995.2,NM_001105528.1	,	0,0,11,2,46,6200	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.7505,0.4873	,	,	30913143	11,50,12457	2203	4300	6503	SO:0001589	frameshift_variant	374864							g.chr18:30913143delT	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.874delA	18.37:g.30913143delT	ENSP00000372576:p.Met292fs					CCDC178_ENST00000300227.8_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000403303.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000583930.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000402325.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579947.1_Frame_Shift_Del_p.M292fs	p.M292fs							10	1056	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Frame_Shift_Del	DEL	ENST00000383096.3	37	c.874delA	CCDS42424.1																																																																																				0.318	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		13	231						13	231	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56202092	56202092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56202092delT	ENST00000361673.3	-	5	5540	c.5327delA	c.(5326-5328)aagfs	p.K1776fs	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1776						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCAAGATGGCTTTTTTGGGTC	0.408																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5326-5328)agfs		alpha-kinase 2							205.0	185.0	192.0					18																	56202092		2203	4300	6503	SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202092delT	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5327delA	18.37:g.56202092delT	ENSP00000354991:p.Lys1776fs						p.K1776fs	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	5540	-			1776					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	c.5327delA	CCDS11966.2																																																																																				0.408	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		7	1075						7	1075	---	---	---	---
FBXO15	201456	broad.mit.edu	37	18	71749238	71749238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71749238delT	ENST00000419743.2	-	9	1266	c.1187delA	c.(1186-1188)aatfs	p.N397fs	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Frame_Shift_Del_p.N321fs	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	397						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTCTCTGTTATTTTTTAAATG	0.328																																						ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(958-960)atfs		F-box protein 15							103.0	97.0	99.0					18																	71749238		2203	4300	6503	SO:0001589	frameshift_variant	201456							g.chr18:71749238delT	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1187delA	18.37:g.71749238delT	ENSP00000393154:p.Asn397fs					FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Frame_Shift_Del_p.N397fs	p.N321fs	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	9	1294	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	321					B3KST3	Frame_Shift_Del	DEL	ENST00000419743.2	37	c.959delA	CCDS45884.1																																																																																				0.328	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		32	147						32	147	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		12	436						12	436	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12384448	12384448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12384448delA	ENST00000356109.5	-	5	884	c.766delT	c.(766-768)tggfs	p.W256fs	ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAACTGGGCCAAAAAAAGGCT	0.398																																						ENST00000356109.5																			0				ovary(1)	1						c.(766-768)ggfs		zinc finger protein 44							88.0	93.0	92.0					19																	12384448		2203	4300	6503	SO:0001589	frameshift_variant	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384448delA	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.766delT	19.37:g.12384448delA	ENSP00000348419:p.Trp256fs					ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs	p.W256fs	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	884	-		Renal(1328;0.157)	256					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Frame_Shift_Del	DEL	ENST00000356109.5	37	c.766delT	CCDS54223.1																																																																																				0.398	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		7	667						7	667	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19136015	19136016	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136015_19136016insA	ENST00000601879.1	-	3	1438_1439	c.1141_1142insT	c.(1141-1143)tgcfs	p.C381fs	SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000456085.2_Frame_Shift_Ins_p.C150fs|SUGP2_ENST00000452918.2_Frame_Shift_Ins_p.C381fs|SUGP2_ENST00000337018.6_Frame_Shift_Ins_p.C381fs|SUGP2_ENST00000600377.1_Frame_Shift_Ins_p.C395fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	381					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGTAAAAAAGCAAAAATCTCTG	0.356																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1141-1143)cttfs		SURP and G patch domain containing 2																																				SO:0001589	frameshift_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136015_19136016insA	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1142dupT	19.37:g.19136020_19136020dupA	ENSP00000472286:p.Cys381fs					SUGP2_ENST00000600377.1_Frame_Shift_Ins_p.L395fs|SUGP2_ENST00000456085.2_Frame_Shift_Ins_p.L150fs|SUGP2_ENST00000452918.2_Frame_Shift_Ins_p.L381fs|SUGP2_ENST00000337018.6_Frame_Shift_Ins_p.L381fs	p.L381fs			Q8IX01	SUGP2_HUMAN			3	1438_1439	-			381					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Ins	INS	ENST00000601879.1	37	c.1141_1142insT	CCDS12392.1																																																																																				0.356	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		70	295						70	295	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22846684	22846685	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22846684_22846685insA	ENST00000456783.2	+	4	457_458	c.213_214insA	c.(214-216)aaafs	p.K72fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGAGAAGATATAAAAAATGTGG	0.317																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(211-216)taaaaafs		zinc finger protein 492																																				SO:0001589	frameshift_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846684_22846685insA	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.219dupA	19.37:g.22846690_22846690dupA	ENSP00000413660:p.Lys72fs						p.*K71fs	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	457_458	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	71					Q08EI7|Q08EI8	Frame_Shift_Ins	INS	ENST00000456783.2	37	c.213_214insA	CCDS46032.1																																																																																				0.317	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		16	75						16	75	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs						p.*520fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		32	1096						32	1096	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		22	1104						22	1104	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330959	39330959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39330959delG	ENST00000221419.5	-	8	1376	c.1010delC	c.(1009-1011)ccafs	p.P338fs	AC104534.3_ENST00000594769.1_5'Flank|HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.P205fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	338	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTAGTGAGGTGGGGGGGGCCC	0.667																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1009-1011)cafs		heterogeneous nuclear ribonucleoprotein L			,	35,46,3417		1,0,33,2,42,1671	9.0	12.0	11.0		,	4.0	1.0	19		11	49,101,6606		1,0,47,4,93,3233	no	codingComplex,codingComplex	HNRNPL	NM_001533.2,NM_001005335.1	,	2,0,80,6,135,4904	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2202,2.3156,2.2528	,	,	39330959	84,147,10023	1906	3709	5615	SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330959delG	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1010delC	19.37:g.39330959delG	ENSP00000221419:p.Pro338fs					HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.P205fs	p.P338fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1376	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		338			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Del	DEL	ENST00000221419.5	37	c.1010delC	CCDS33015.1																																																																																				0.667	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			18	82						18	82	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40834399	40834399	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40834399delG	ENST00000582783.1	-	6	483	c.471delC	c.(469-471)cccfs	p.P157fs	C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	157						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCGGGCGCCTGGGGGGTGTGC	0.612																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(469-471)ccfs		chromosome 19 open reading frame 47							156.0	160.0	158.0					19																	40834399		2203	4300	6503	SO:0001589	frameshift_variant	126526							g.chr19:40834399delG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.471delC	19.37:g.40834399delG	ENSP00000463159:p.Pro157fs					C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs	p.P157fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	483	-			157					Q8IZ33|Q8N0V9	Frame_Shift_Del	DEL	ENST00000582783.1	37	c.471delC	CCDS58662.1																																																																																				0.612	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		8	1159						8	1159	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.700	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	811						7	811	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192558	51192559	+	Intron	INS	-	-	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51192558_51192559insG	ENST00000293441.1	-	15	1983				SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.H35fs|SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000359082.3_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGGAGAAATGGGGGGGTGGT	0.589																																						ENST00000391813.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(103-105)tttfs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001627	intron_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192558_51192559insG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1965-22->C	19.37:g.51192565_51192565dupG						SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000391814.1_Intron	p.F35fs			Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	102_103	-		all_neural(266;0.057)	1218					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.103_104insC	CCDS12799.1																																																																																				0.589	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		45	264						45	264	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			15	385						15	385	---	---	---	---
ZNF543	125919	broad.mit.edu	37	19	57840153	57840154	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840153_57840154insA	ENST00000321545.4	+	4	1668_1669	c.1323_1324insA	c.(1324-1326)aaafs	p.K442fs		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGTCTTGCATAAAAGGACCCA	0.48																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1321-1326)caaaagfs		zinc finger protein 543																																				SO:0001589	frameshift_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840153_57840154insA	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1327dupA	19.37:g.57840157_57840157dupA	ENSP00000322545:p.Lys442fs						p.QK441fs	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1668_1669	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	441					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Frame_Shift_Ins	INS	ENST00000321545.4	37	c.1323_1324insA	CCDS33130.1																																																																																				0.480	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		51	268						51	268	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57867399	57867399	+	Splice_Site	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57867399delT	ENST00000282286.5	+	3	335	c.162delT	c.(160-162)ggt>gg	p.G54fs	ZNF304_ENST00000391705.3_Splice_Site_p.G54fs|ZNF304_ENST00000598744.1_Splice_Site_p.G12fs|ZNF304_ENST00000443917.2_Splice_Site_p.G101fs			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGCTTTCAGGTTTTTGGTGTG	0.507																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.e4-1		zinc finger protein 304							97.0	89.0	92.0					19																	57867399		2203	4300	6503	SO:0001630	splice_region_variant	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867399delT	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.161-1T>-	19.37:g.57867399delT						ZNF304_ENST00000443917.2_Splice_Site_p.G101_splice|ZNF304_ENST00000282286.5_Splice_Site_p.G54_splice|ZNF304_ENST00000598744.1_Splice_Site_p.G12_splice	p.G54_splice	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	446	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	54			KRAB.			Splice_Site	DEL	ENST00000282286.5	37	c.160_splice	CCDS12950.1																																																																																				0.507	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		Frame_Shift_Del	8	635						8	635	---	---	---	---
ZNF814	730051	broad.mit.edu	37	19	58385540	58385540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58385540delT	ENST00000435989.2	-	3	1452	c.1218delA	c.(1216-1218)aaafs	p.K406fs	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	406					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTCATAATGTTTTTTGTCAG	0.393																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1216-1218)aafs		zinc finger protein 814							113.0	90.0	97.0					19																	58385540		692	1591	2283	SO:0001589	frameshift_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385540delT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1218delA	19.37:g.58385540delT	ENSP00000410545:p.Lys406fs					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	p.K406fs	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1452	-			406					A6NF35	Frame_Shift_Del	DEL	ENST00000435989.2	37	c.1218delA	CCDS46212.1																																																																																				0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		7	93						7	93	---	---	---	---
PCED1A	64773	broad.mit.edu	37	20	2816204	2816204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2816204delC	ENST00000360652.2	-	8	1771	c.1269delG	c.(1267-1269)gggfs	p.G423fs	PCED1A_ENST00000356872.3_Frame_Shift_Del_p.G372fs	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	423																	GCCTGCAGGGCCCCCCCATTC	0.622																																						ENST00000360652.2																			0											c.(1267-1269)ggfs		PC-esterase domain containing 1A							61.0	58.0	59.0					20																	2816204		2203	4300	6503	SO:0001589	frameshift_variant	64773							g.chr20:2816204delC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1269delG	20.37:g.2816204delC	ENSP00000353868:p.Gly423fs					PCED1A_ENST00000356872.3_Frame_Shift_Del_p.G372fs	p.G423fs	NM_022760.3	NP_073597.2					8	1771	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Frame_Shift_Del	DEL	ENST00000360652.2	37	c.1269delG	CCDS13035.1																																																																																				0.622	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		7	348						7	348	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141.0	152.0	148.0					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		7	1255						7	1255	---	---	---	---
BMP2	650	broad.mit.edu	37	20	6750998	6750999	+	Frame_Shift_Ins	INS	-	-	C	rs79417223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6750998_6750999insC	ENST00000378827.4	+	2	1444_1445	c.225_226insC	c.(226-228)cccfs	p.P76fs		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	76					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						ACGCCGTGGTGCCCCCCTACAT	0.653																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(223-228)gtccccfs		bone morphogenetic protein 2	Simvastatin(DB00641)																																			SO:0001589	frameshift_variant	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6750998_6750999insC		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.231dupC	20.37:g.6751004_6751004dupC	ENSP00000368104:p.Pro76fs						p.VP75fs	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			2	1444_1445	+			75						Frame_Shift_Ins	INS	ENST00000378827.4	37	c.225_226insC	CCDS13099.1																																																																																				0.653	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			35	174						35	174	---	---	---	---
GINS1	9837	broad.mit.edu	37	20	25422396	25422397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25422396_25422397insA	ENST00000262460.4	+	6	600_601	c.506_507insA	c.(505-510)ttaaaafs	p.LK169fs	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	169					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TCAGTCCTATTAAAAAAAAATA	0.297																																						ENST00000262460.4																			1	Deletion - Frameshift(1)	p.N172fs*14(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(505-507)taafs		GINS complex subunit 1 (Psf1 homolog)																																				SO:0001589	frameshift_variant	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25422396_25422397insA	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.515dupA	20.37:g.25422405_25422405dupA	ENSP00000262460:p.Leu169fs					GINS1_ENST00000429262.2_3'UTR	p.*169fs	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN			6	600_601	+			169					Q9NQE2|Q9NQI7	Frame_Shift_Ins	INS	ENST00000262460.4	37	c.506_507insA	CCDS33451.1																																																																																				0.297	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		7	321						7	321	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1183-1185)del		kinesin family member 3B				60,4204		6,48,2078						2.7	1.0			52	101,8153		6,89,4032	no	coding	KIF3B	NM_004798.3		12,137,6110	A1A1,A1R,RR		1.2236,1.4071,1.2861				161,12357				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898763_30898765delGAG	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1183_1185delGAG	20.37:g.30898772_30898774delGAG	ENSP00000364864:p.Glu399del					KIF3B_ENST00000418717.2_Intron	p.E399del	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1350_1352	+			399			Poly-Glu.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.1183_1185delGAG	CCDS13200.1																																																																																				0.571	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		7	244						7	244	---	---	---	---
RBM39	9584	broad.mit.edu	37	20	34320047	34320047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34320047delT	ENST00000253363.6	-	4	135	c.112delA	c.(112-114)agcfs	p.S38fs	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Frame_Shift_Del_p.S38fs|RBM39_ENST00000361162.6_Frame_Shift_Del_p.S38fs			Q14498	RBM39_HUMAN	RNA binding motif protein 39	38					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)			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)					CTGCTCTTGCTTTTTTTCCTC	0.398																																						ENST00000361162.6																			0				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.(112-114)gcfs		RNA binding motif protein 39							122.0	113.0	116.0					20																	34320047		2203	4300	6503	SO:0001589	frameshift_variant	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34320047delT	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.112delA	20.37:g.34320047delT	ENSP00000253363:p.Ser38fs					RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Frame_Shift_Del_p.S38fs|RBM39_ENST00000528062.3_Frame_Shift_Del_p.S38fs	p.S38fs	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			4	496	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		38					A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Frame_Shift_Del	DEL	ENST00000253363.6	37	c.112delA	CCDS13266.1																																																																																				0.398	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		8	663						8	663	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-	rs149568606		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36627613delG	ENST00000373448.2	-	6	3008	c.2770delC	c.(2770-2772)ctgfs	p.L924fs	TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	924					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L924fs*37(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCACTGCCAGGGGGGCGTCC	0.577																																						ENST00000373448.2																			1	Deletion - Frameshift(1)	p.L924fs*37(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2770-2772)tgfs		TELO2 interacting protein 1							76.0	73.0	74.0					20																	36627613		2203	4300	6503	SO:0001589	frameshift_variant	9675						binding	g.chr20:36627613delG	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2770delC	20.37:g.36627613delG	ENSP00000362547:p.Leu924fs					TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs	p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			6	3008	-			924					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Frame_Shift_Del	DEL	ENST00000373448.2	37	c.2770delC	CCDS13300.1																																																																																				0.577	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		40	359						40	359	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44641175	44641176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44641175_44641176insC	ENST00000372330.3	+	8	1303_1304	c.1284_1285insC	c.(1285-1287)cccfs	p.P429fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	429					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCACTGAGGGGCCCCCCTTGCA	0.629																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1282-1287)ggccccfs		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)																																			SO:0001589	frameshift_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641175_44641176insC		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1290dupC	20.37:g.44641181_44641181dupC	ENSP00000361405:p.Pro429fs						p.GP428fs	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			8	1303_1304	+		Myeloproliferative disorder(115;0.0122)	428					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Frame_Shift_Ins	INS	ENST00000372330.3	37	c.1284_1285insC	CCDS13390.1																																																																																				0.629	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			79	433						79	433	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	2210						7	2210	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-	rs369577187		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058447_11058450delAAAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058447_11058450delAAAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.294	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		10	93						10	93	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443416	17443417	+	lincRNA	DEL	TG	TG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431																																						ENST00000458468.1																			0																																																			0							g.chr21:17443416_17443417delTG																													21.37:g.17443426_17443427delTG								NR_027790.1						0	27	+									RNA	DEL	ENST00000458468.1	37																																																																																						0.431	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			12	809						12	809	---	---	---	---
DSCR10	259234	broad.mit.edu	37	21	39580635	39580635	+	lincRNA	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39580635delA	ENST00000432141.1	+	0	757					NR_027695.1		P59022	DSC10_HUMAN	Down syndrome critical region gene 10 (non-protein coding)																		TCAAAGGTTCAAAAAAACAAG	0.284																																						ENST00000432141.1																			0																																																			0							g.chr21:39580635delA	AB066291		21q22.13	2012-10-16	2011-02-24		ENSG00000233316	ENSG00000233316		"""Long non-coding RNAs"""	16302	non-coding RNA	RNA, long non-coding			"""Down syndrome critical region gene 10"""			12168953	Standard	NR_027695		Approved		uc010gnt.2	P59022	OTTHUMG00000090611		21.37:g.39580635delA								NR_027695.1						0	757	+								Q52LN2	RNA	DEL	ENST00000432141.1	37																																																																																						0.284	DSCR10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000207199.1	NR_027695.1		62	269						62	269	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21133946	21133947	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21133946_21133947insT	ENST00000215727.5	+	2	629_630	c.346_347insT	c.(346-348)cttfs	p.L116fs	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.L116fs|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	116					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CATCCTCCAGCTTTTTCATGGC	0.5																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(346-348)tttfs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133946_21133947insT	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.351dupT	22.37:g.21133951_21133951dupT	ENSP00000215727:p.Leu116fs					SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.F116fs|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	p.F116fs	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	629_630	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	116					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.346_347insT	CCDS13783.1																																																																																				0.500	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		31	303						31	303	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(484-486)ttfs		neurofibromin 2 (merlin)							143.0	145.0	144.0					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		9	1034						9	1034	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		14	640						14	640	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		12	799						12	799	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		10	653						10	653	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		10	482						10	482	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18911709	18911710	+	Frame_Shift_Ins	INS	-	-	A	rs373407231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911709_18911710insA	ENST00000379942.4	-	33	4266_4267	c.3601_3602insT	c.(3601-3603)tatfs	p.Y1201fs	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1201					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCGCTGTCATAAAAGAAGTGG	0.525																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3601-3603)tgafs		phosphorylase kinase, alpha 2 (liver)																																				SO:0001589	frameshift_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18911709_18911710insA		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3602dupT	X.37:g.18911713_18911713dupA	ENSP00000369274:p.Tyr1201fs					PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	p.*1201fs	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			33	4266_4267	-	Hepatocellular(33;0.183)		1201					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Frame_Shift_Ins	INS	ENST00000379942.4	37	c.3601_3602insT	CCDS14190.1																																																																																				0.525	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		225	868						225	868	---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64722292	64722293	+	Frame_Shift_Ins	INS	-	-	G	rs539936063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722292_64722293insG	ENST00000338957.4	+	5	1781_1782	c.1714_1715insG	c.(1714-1716)cggfs	p.R572fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.R561fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	572							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGTAGACCGGGGGGTGTAT	0.47																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1714-1716)gggfs		zinc finger CCCH-type containing 12B																																				SO:0001589	frameshift_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722292_64722293insG	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1720dupG	X.37:g.64722298_64722298dupG	ENSP00000340839:p.Arg572fs					ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.G561fs	p.G572fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	1781_1782	+			561					B2RTQ3|E9PAJ6|Q5H9C0	Frame_Shift_Ins	INS	ENST00000338957.4	37	c.1714_1715insG	CCDS48131.2																																																																																				0.470	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		25	117						25	117	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	265						7	265	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70603000	70603000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70603000delA	ENST00000373790.4	+	12	1981	c.1930delA	c.(1930-1932)aaafs	p.K646fs	TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs|TAF1_ENST00000449580.1_Frame_Shift_Del_p.K646fs	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	646	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAGCACATCAAAAAAAAGGC	0.408																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1930-1932)aafs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							44.0	42.0	43.0					X																	70603000		2203	4300	6503	SO:0001589	frameshift_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603000delA		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1930delA	X.37:g.70603000delA	ENSP00000362895:p.Lys646fs					TAF1_ENST00000373790.4_Frame_Shift_Del_p.K646fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs	p.K646fs			P21675	TAF1_HUMAN			12	1981	+	Renal(35;0.156)	all_lung(315;0.000321)	646					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	ENST00000373790.4	37	c.1930delA	CCDS35325.1																																																																																				0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		7	274						7	274	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-	rs398123423|rs587780286		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0.0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	596						14	596	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	302						7	302	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135430725	135430725	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430725delA	ENST00000394143.1	+	6	5151	c.4860delA	c.(4858-4860)tcafs	p.S1620fs	GPR112_ENST00000370652.1_Frame_Shift_Del_p.S1620fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.S1557fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.S1415fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.S1415fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1620					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGCTACTTCAAAAAACAAAA	0.428																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4858-4860)tcfs		G protein-coupled receptor 112							104.0	95.0	98.0					X																	135430725		2203	4300	6503	SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430725delA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4860delA	X.37:g.135430725delA	ENSP00000377699:p.Ser1620fs					GPR112_ENST00000370652.1_Frame_Shift_Del_p.S1620fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.S1415fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.S1557fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.S1415fs	p.S1620fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5151	+	Acute lymphoblastic leukemia(192;0.000127)		1620					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Del	DEL	ENST00000394143.1	37	c.4860delA	CCDS35409.1																																																																																				0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			61	576						61	576	---	---	---	---
